diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 2850883f..82530f6b 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -1,10 +1,10 @@ # Mapped deprecated terms | Ontology | Tot deprecated in Mondo | |:--------------------------------------------|--------------------------:| -| [OMIM](./mapped_deprecated_omim.md) | 45 | -| [DOID](./mapped_deprecated_doid.md) | 2 | -| [NCIT](./mapped_deprecated_ncit.md) | 11 | -| [ORDO](./mapped_deprecated_ordo.md) | 0 | +| [OMIM](./mapped_deprecated_omim.md) | 43 | +| [DOID](./mapped_deprecated_doid.md) | 3 | +| [ORDO](./mapped_deprecated_ordo.md) | 225 | +| [NCIT](./mapped_deprecated_ncit.md) | 12 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | | [GARD](./mapped_deprecated_gard.md) | 0 | diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md index 448de8f7..4e12e8f1 100644 --- a/docs/reports/mapped_deprecated_doid.md +++ b/docs/reports/mapped_deprecated_doid.md @@ -6,4 +6,5 @@ |:--------------|:---------------------|:-------------------------| | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | | MONDO:0002546 | DOID:955 | MONDO:equivalentObsolete | +| MONDO:0003333 | DOID:5209 | MONDO:equivalentObsolete | | MONDO:0004398 | DOID:7922 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/mapped_deprecated_ncit.md b/docs/reports/mapped_deprecated_ncit.md index d34176d6..9525a718 100644 --- a/docs/reports/mapped_deprecated_ncit.md +++ b/docs/reports/mapped_deprecated_ncit.md @@ -5,6 +5,7 @@ | mondo_id | source_id | source | |:--------------|:---------------------|:-------------------------| | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | +| MONDO:0002063 | NCIT:C6977 | MONDO:equivalentObsolete | | MONDO:0003998 | NCIT:C40257 | MONDO:equivalentObsolete | | MONDO:0004204 | NCIT:C4462 | MONDO:equivalentObsolete | | MONDO:0004419 | NCIT:C39822 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index 8132b7ae..334b4b46 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -32,7 +32,6 @@ | MONDO:0010859 | OMIM:600309 | MONDO:equivalentObsolete | | MONDO:0011111 | OMIM:601563 | MONDO:equivalentObsolete | | MONDO:0011543 | OMIM:605365 | MONDO:equivalentObsolete | -| MONDO:0011882 | OMIM:607655 | MONDO:equivalentObsolete | | MONDO:0011910 | OMIM:607801 | MONDO:equivalentObsolete | | MONDO:0012144 | OMIM:608890 | MONDO:equivalentObsolete | | MONDO:0012461 | OMIM:610269 | MONDO:equivalentObsolete | @@ -40,7 +39,6 @@ | MONDO:0013596 | OMIM:614157 | MONDO:equivalentObsolete | | MONDO:0013617 | OMIM:614192 | MONDO:equivalentObsolete | | MONDO:0013701 | OMIM:614339 | MONDO:equivalentObsolete | -| MONDO:0014695 | OMIM:616568 | MONDO:equivalentObsolete | | MONDO:0014849 | OMIM:616958 | MONDO:equivalentObsolete | | MONDO:0017996 | OMIM:615057 | MONDO:equivalentObsolete | | MONDO:0018138 | OMIM:103470 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index 5ee49944..4ca1e724 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -2,6 +2,231 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv) ### Mapped deprecated terms -| mondo_id | source_id | source | -|:-----------|:---------------------|:-------------------| -| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | \ No newline at end of file +| mondo_id | source_id | source | +|:--------------|:---------------------|:-------------------------| +| ID | A oboInOwl:hasDbXref | >A oboInOwl:source | +| MONDO:0001153 | Orphanet:459690 | MONDO:equivalentObsolete | +| MONDO:0001807 | Orphanet:79211 | MONDO:equivalentObsolete | +| MONDO:0003144 | Orphanet:251883 | MONDO:equivalentObsolete | +| MONDO:0006042 | Orphanet:499004 | MONDO:equivalentObsolete | +| MONDO:0007761 | Orphanet:413 | MONDO:equivalentObsolete | +| MONDO:0007779 | Orphanet:306588 | MONDO:equivalentObsolete | +| MONDO:0008018 | Orphanet:587 | MONDO:equivalentObsolete | +| MONDO:0008083 | Orphanet:228343 | MONDO:equivalentObsolete | +| MONDO:0008136 | Orphanet:137902 | MONDO:equivalentObsolete | +| MONDO:0008157 | Orphanet:1306 | MONDO:equivalentObsolete | +| MONDO:0008227 | Orphanet:1795 | MONDO:equivalentObsolete | +| MONDO:0008767 | Orphanet:228346 | MONDO:equivalentObsolete | +| MONDO:0008768 | Orphanet:228340 | MONDO:equivalentObsolete | +| MONDO:0008769 | Orphanet:228349 | MONDO:equivalentObsolete | +| MONDO:0008816 | Orphanet:1136 | MONDO:equivalentObsolete | +| MONDO:0008882 | Orphanet:2292 | MONDO:equivalentObsolete | +| MONDO:0009317 | Orphanet:1245 | MONDO:equivalentObsolete | +| MONDO:0009744 | Orphanet:228329 | MONDO:equivalentObsolete | +| MONDO:0009745 | Orphanet:228360 | MONDO:equivalentObsolete | +| MONDO:0010045 | Orphanet:2823 | MONDO:equivalentObsolete | +| MONDO:0010830 | Orphanet:228354 | MONDO:equivalentObsolete | +| MONDO:0010994 | Orphanet:2641 | MONDO:equivalentObsolete | +| MONDO:0011144 | Orphanet:228363 | MONDO:equivalentObsolete | +| MONDO:0011910 | Orphanet:265 | MONDO:equivalentObsolete | +| MONDO:0012188 | Orphanet:228357 | MONDO:equivalentObsolete | +| MONDO:0012282 | Orphanet:2725 | MONDO:equivalentObsolete | +| MONDO:0012296 | Orphanet:268835 | MONDO:equivalentObsolete | +| MONDO:0012414 | Orphanet:228337 | MONDO:equivalentObsolete | +| MONDO:0012588 | Orphanet:228366 | MONDO:equivalentObsolete | +| MONDO:0013297 | Orphanet:238755 | MONDO:equivalentObsolete | +| MONDO:0013866 | Orphanet:314629 | MONDO:equivalentObsolete | +| MONDO:0014147 | Orphanet:352709 | MONDO:equivalentObsolete | +| MONDO:0014788 | Orphanet:466801 | MONDO:equivalentObsolete | +| MONDO:0015120 | Orphanet:101949 | MONDO:equivalentObsolete | +| MONDO:0015163 | Orphanet:102373 | MONDO:equivalentObsolete | +| MONDO:0015172 | Orphanet:103912 | MONDO:equivalentObsolete | +| MONDO:0015173 | Orphanet:103916 | MONDO:equivalentObsolete | +| MONDO:0015217 | Orphanet:108985 | MONDO:equivalentObsolete | +| MONDO:0015218 | Orphanet:108987 | MONDO:equivalentObsolete | +| MONDO:0015255 | Orphanet:1256 | MONDO:equivalentObsolete | +| MONDO:0015297 | Orphanet:137653 | MONDO:equivalentObsolete | +| MONDO:0015311 | Orphanet:137911 | MONDO:equivalentObsolete | +| MONDO:0015343 | Orphanet:139420 | MONDO:equivalentObsolete | +| MONDO:0015551 | Orphanet:158665 | MONDO:equivalentObsolete | +| MONDO:0015560 | Orphanet:158796 | MONDO:equivalentObsolete | +| MONDO:0015591 | Orphanet:163903 | MONDO:equivalentObsolete | +| MONDO:0015593 | Orphanet:163914 | MONDO:equivalentObsolete | +| MONDO:0015594 | Orphanet:163918 | MONDO:equivalentObsolete | +| MONDO:0015602 | Orphanet:163988 | MONDO:equivalentObsolete | +| MONDO:0015713 | Orphanet:169615 | MONDO:equivalentObsolete | +| MONDO:0015714 | Orphanet:169618 | MONDO:equivalentObsolete | +| MONDO:0015902 | Orphanet:181425 | MONDO:equivalentObsolete | +| MONDO:0015919 | Orphanet:182073 | MONDO:equivalentObsolete | +| MONDO:0015920 | Orphanet:182076 | MONDO:equivalentObsolete | +| MONDO:0015937 | Orphanet:182214 | MONDO:equivalentObsolete | +| MONDO:0015964 | Orphanet:183598 | MONDO:equivalentObsolete | +| MONDO:0015965 | Orphanet:183601 | MONDO:equivalentObsolete | +| MONDO:0015999 | Orphanet:189439 | MONDO:equivalentObsolete | +| MONDO:0016082 | Orphanet:2042 | MONDO:equivalentObsolete | +| MONDO:0016093 | Orphanet:206473 | MONDO:equivalentObsolete | +| MONDO:0016111 | Orphanet:206659 | MONDO:equivalentObsolete | +| MONDO:0016124 | Orphanet:206985 | MONDO:equivalentObsolete | +| MONDO:0016171 | Orphanet:208981 | MONDO:equivalentObsolete | +| MONDO:0016248 | Orphanet:213517 | MONDO:equivalentObsolete | +| MONDO:0016249 | Orphanet:213524 | MONDO:equivalentObsolete | +| MONDO:0016254 | Orphanet:213574 | MONDO:equivalentObsolete | +| MONDO:0016285 | Orphanet:213817 | MONDO:equivalentObsolete | +| MONDO:0016351 | Orphanet:2194 | MONDO:equivalentObsolete | +| MONDO:0016626 | Orphanet:248305 | MONDO:equivalentObsolete | +| MONDO:0016715 | Orphanet:251880 | MONDO:equivalentObsolete | +| MONDO:0016795 | Orphanet:254793 | MONDO:equivalentObsolete | +| MONDO:0016815 | Orphanet:255241 | MONDO:equivalentObsolete | +| MONDO:0016816 | Orphanet:255249 | MONDO:equivalentObsolete | +| MONDO:0016993 | Orphanet:263558 | MONDO:equivalentObsolete | +| MONDO:0016997 | Orphanet:263676 | MONDO:equivalentObsolete | +| MONDO:0017036 | Orphanet:264955 | MONDO:equivalentObsolete | +| MONDO:0017063 | Orphanet:268377 | MONDO:equivalentObsolete | +| MONDO:0017064 | Orphanet:268384 | MONDO:equivalentObsolete | +| MONDO:0017065 | Orphanet:268388 | MONDO:equivalentObsolete | +| MONDO:0017066 | Orphanet:268392 | MONDO:equivalentObsolete | +| MONDO:0017067 | Orphanet:268397 | MONDO:equivalentObsolete | +| MONDO:0017068 | Orphanet:268740 | MONDO:equivalentObsolete | +| MONDO:0017070 | Orphanet:268748 | MONDO:equivalentObsolete | +| MONDO:0017071 | Orphanet:268752 | MONDO:equivalentObsolete | +| MONDO:0017072 | Orphanet:268758 | MONDO:equivalentObsolete | +| MONDO:0017073 | Orphanet:268762 | MONDO:equivalentObsolete | +| MONDO:0017074 | Orphanet:268766 | MONDO:equivalentObsolete | +| MONDO:0017075 | Orphanet:268770 | MONDO:equivalentObsolete | +| MONDO:0017083 | Orphanet:268832 | MONDO:equivalentObsolete | +| MONDO:0017084 | Orphanet:268838 | MONDO:equivalentObsolete | +| MONDO:0017240 | Orphanet:280651 | MONDO:equivalentObsolete | +| MONDO:0017256 | Orphanet:280914 | MONDO:equivalentObsolete | +| MONDO:0017336 | Orphanet:289527 | MONDO:equivalentObsolete | +| MONDO:0017378 | Orphanet:2925 | MONDO:equivalentObsolete | +| MONDO:0017421 | Orphanet:294929 | MONDO:equivalentObsolete | +| MONDO:0017422 | Orphanet:294931 | MONDO:equivalentObsolete | +| MONDO:0017423 | Orphanet:294935 | MONDO:equivalentObsolete | +| MONDO:0017448 | Orphanet:294990 | MONDO:equivalentObsolete | +| MONDO:0017458 | Orphanet:295008 | MONDO:equivalentObsolete | +| MONDO:0017459 | Orphanet:295010 | MONDO:equivalentObsolete | +| MONDO:0017494 | Orphanet:295085 | MONDO:equivalentObsolete | +| MONDO:0017495 | Orphanet:295087 | MONDO:equivalentObsolete | +| MONDO:0017506 | Orphanet:295110 | MONDO:equivalentObsolete | +| MONDO:0017507 | Orphanet:295112 | MONDO:equivalentObsolete | +| MONDO:0017508 | Orphanet:295114 | MONDO:equivalentObsolete | +| MONDO:0017539 | Orphanet:295179 | MONDO:equivalentObsolete | +| MONDO:0017540 | Orphanet:295181 | MONDO:equivalentObsolete | +| MONDO:0017541 | Orphanet:295183 | MONDO:equivalentObsolete | +| MONDO:0017542 | Orphanet:295185 | MONDO:equivalentObsolete | +| MONDO:0017655 | Orphanet:306762 | MONDO:equivalentObsolete | +| MONDO:0017728 | Orphanet:309239 | MONDO:equivalentObsolete | +| MONDO:0017772 | Orphanet:31142 | MONDO:equivalentObsolete | +| MONDO:0017984 | Orphanet:3267 | MONDO:equivalentObsolete | +| MONDO:0017996 | Orphanet:329255 | MONDO:equivalentObsolete | +| MONDO:0018104 | Orphanet:3460 | MONDO:equivalentObsolete | +| MONDO:0018107 | Orphanet:35061 | MONDO:equivalentObsolete | +| MONDO:0018110 | Orphanet:35064 | MONDO:equivalentObsolete | +| MONDO:0018113 | Orphanet:35098 | MONDO:equivalentObsolete | +| MONDO:0018138 | Orphanet:352740 | MONDO:equivalentObsolete | +| MONDO:0018255 | Orphanet:370019 | MONDO:equivalentObsolete | +| MONDO:0018285 | Orphanet:371054 | MONDO:equivalentObsolete | +| MONDO:0018286 | Orphanet:371064 | MONDO:equivalentObsolete | +| MONDO:0018627 | Orphanet:443287 | MONDO:equivalentObsolete | +| MONDO:0018665 | Orphanet:448348 | MONDO:equivalentObsolete | +| MONDO:0018722 | Orphanet:458841 | MONDO:equivalentObsolete | +| MONDO:0018912 | Orphanet:553 | MONDO:equivalentObsolete | +| MONDO:0019083 | Orphanet:70474 | MONDO:equivalentObsolete | +| MONDO:0019116 | Orphanet:717 | MONDO:equivalentObsolete | +| MONDO:0019165 | Orphanet:759 | MONDO:equivalentObsolete | +| MONDO:0019348 | Orphanet:82004 | MONDO:equivalentObsolete | +| MONDO:0019389 | Orphanet:83648 | MONDO:equivalentObsolete | +| MONDO:0019410 | Orphanet:85196 | MONDO:equivalentObsolete | +| MONDO:0019520 | Orphanet:89832 | MONDO:equivalentObsolete | +| MONDO:0019657 | Orphanet:93221 | MONDO:equivalentObsolete | +| MONDO:0019658 | Orphanet:93222 | MONDO:equivalentObsolete | +| MONDO:0019675 | Orphanet:93359 | MONDO:equivalentObsolete | +| MONDO:0019723 | Orphanet:93550 | MONDO:equivalentObsolete | +| MONDO:0019724 | Orphanet:93551 | MONDO:equivalentObsolete | +| MONDO:0019765 | Orphanet:93942 | MONDO:equivalentObsolete | +| MONDO:0019774 | Orphanet:93970 | MONDO:equivalentObsolete | +| MONDO:0019776 | Orphanet:93972 | MONDO:equivalentObsolete | +| MONDO:0019779 | Orphanet:93975 | MONDO:equivalentObsolete | +| MONDO:0019826 | Orphanet:95493 | MONDO:equivalentObsolete | +| MONDO:0019847 | Orphanet:95701 | MONDO:equivalentObsolete | +| MONDO:0019894 | Orphanet:96136 | MONDO:equivalentObsolete | +| MONDO:0019899 | Orphanet:96152 | MONDO:equivalentObsolete | +| MONDO:0019939 | Orphanet:96369 | MONDO:equivalentObsolete | +| MONDO:0019987 | Orphanet:97556 | MONDO:equivalentObsolete | +| MONDO:0020092 | Orphanet:98345 | MONDO:equivalentObsolete | +| MONDO:0020146 | Orphanet:98554 | MONDO:equivalentObsolete | +| MONDO:0020149 | Orphanet:98558 | MONDO:equivalentObsolete | +| MONDO:0020150 | Orphanet:98559 | MONDO:equivalentObsolete | +| MONDO:0020160 | Orphanet:98569 | MONDO:equivalentObsolete | +| MONDO:0020163 | Orphanet:98572 | MONDO:equivalentObsolete | +| MONDO:0020164 | Orphanet:98573 | MONDO:equivalentObsolete | +| MONDO:0020168 | Orphanet:98577 | MONDO:equivalentObsolete | +| MONDO:0020170 | Orphanet:98579 | MONDO:equivalentObsolete | +| MONDO:0020174 | Orphanet:98583 | MONDO:equivalentObsolete | +| MONDO:0020176 | Orphanet:98585 | MONDO:equivalentObsolete | +| MONDO:0020177 | Orphanet:98586 | MONDO:equivalentObsolete | +| MONDO:0020178 | Orphanet:98587 | MONDO:equivalentObsolete | +| MONDO:0020180 | Orphanet:98590 | MONDO:equivalentObsolete | +| MONDO:0020181 | Orphanet:98591 | MONDO:equivalentObsolete | +| MONDO:0020182 | Orphanet:98592 | MONDO:equivalentObsolete | +| MONDO:0020185 | Orphanet:98595 | MONDO:equivalentObsolete | +| MONDO:0020186 | Orphanet:98596 | MONDO:equivalentObsolete | +| MONDO:0020187 | Orphanet:98597 | MONDO:equivalentObsolete | +| MONDO:0020188 | Orphanet:98598 | MONDO:equivalentObsolete | +| MONDO:0020189 | Orphanet:98599 | MONDO:equivalentObsolete | +| MONDO:0020190 | Orphanet:98600 | MONDO:equivalentObsolete | +| MONDO:0020191 | Orphanet:98601 | MONDO:equivalentObsolete | +| MONDO:0020193 | Orphanet:98603 | MONDO:equivalentObsolete | +| MONDO:0020196 | Orphanet:98608 | MONDO:equivalentObsolete | +| MONDO:0020199 | Orphanet:98611 | MONDO:equivalentObsolete | +| MONDO:0020200 | Orphanet:98612 | MONDO:equivalentObsolete | +| MONDO:0020201 | Orphanet:98613 | MONDO:equivalentObsolete | +| MONDO:0020202 | Orphanet:98614 | MONDO:equivalentObsolete | +| MONDO:0020203 | Orphanet:98615 | MONDO:equivalentObsolete | +| MONDO:0020205 | Orphanet:98617 | MONDO:equivalentObsolete | +| MONDO:0020208 | Orphanet:98620 | MONDO:equivalentObsolete | +| MONDO:0020217 | Orphanet:98632 | MONDO:equivalentObsolete | +| MONDO:0020218 | Orphanet:98633 | MONDO:equivalentObsolete | +| MONDO:0020220 | Orphanet:98636 | MONDO:equivalentObsolete | +| MONDO:0020221 | Orphanet:98637 | MONDO:equivalentObsolete | +| MONDO:0020227 | Orphanet:98643 | MONDO:equivalentObsolete | +| MONDO:0020229 | Orphanet:98645 | MONDO:equivalentObsolete | +| MONDO:0020231 | Orphanet:98647 | MONDO:equivalentObsolete | +| MONDO:0020238 | Orphanet:98657 | MONDO:equivalentObsolete | +| MONDO:0020241 | Orphanet:98662 | MONDO:equivalentObsolete | +| MONDO:0020243 | Orphanet:98665 | MONDO:equivalentObsolete | +| MONDO:0020244 | Orphanet:98666 | MONDO:equivalentObsolete | +| MONDO:0020245 | Orphanet:98667 | MONDO:equivalentObsolete | +| MONDO:0020259 | Orphanet:98689 | MONDO:equivalentObsolete | +| MONDO:0020260 | Orphanet:98690 | MONDO:equivalentObsolete | +| MONDO:0020261 | Orphanet:98691 | MONDO:equivalentObsolete | +| MONDO:0020262 | Orphanet:98692 | MONDO:equivalentObsolete | +| MONDO:0020263 | Orphanet:98693 | MONDO:equivalentObsolete | +| MONDO:0020264 | Orphanet:98694 | MONDO:equivalentObsolete | +| MONDO:0020265 | Orphanet:98695 | MONDO:equivalentObsolete | +| MONDO:0020266 | Orphanet:98696 | MONDO:equivalentObsolete | +| MONDO:0020267 | Orphanet:98697 | MONDO:equivalentObsolete | +| MONDO:0020268 | Orphanet:98698 | MONDO:equivalentObsolete | +| MONDO:0020269 | Orphanet:98699 | MONDO:equivalentObsolete | +| MONDO:0020270 | Orphanet:98700 | MONDO:equivalentObsolete | +| MONDO:0020271 | Orphanet:98701 | MONDO:equivalentObsolete | +| MONDO:0020273 | Orphanet:98703 | MONDO:equivalentObsolete | +| MONDO:0020274 | Orphanet:98704 | MONDO:equivalentObsolete | +| MONDO:0020276 | Orphanet:98708 | MONDO:equivalentObsolete | +| MONDO:0020278 | Orphanet:98710 | MONDO:equivalentObsolete | +| MONDO:0020279 | Orphanet:98711 | MONDO:equivalentObsolete | +| MONDO:0020280 | Orphanet:98712 | MONDO:equivalentObsolete | +| MONDO:0020281 | Orphanet:98713 | MONDO:equivalentObsolete | +| MONDO:0020282 | Orphanet:98714 | MONDO:equivalentObsolete | +| MONDO:0020489 | Orphanet:99763 | MONDO:equivalentObsolete | +| MONDO:0020524 | Orphanet:99878 | MONDO:equivalentObsolete | +| MONDO:0020529 | Orphanet:99893 | MONDO:equivalentObsolete | +| MONDO:0020742 | Orphanet:1317 | MONDO:equivalentObsolete | +| MONDO:0020871 | Orphanet:623 | MONDO:equivalentObsolete | +| MONDO:0021062 | Orphanet:306539 | MONDO:equivalentObsolete | +| MONDO:0022921 | Orphanet:2861 | MONDO:equivalentObsolete | +| MONDO:0023072 | Orphanet:1939 | MONDO:equivalentObsolete | +| MONDO:0034556 | Orphanet:493348 | MONDO:equivalentObsolete | +| MONDO:0043007 | Orphanet:330197 | MONDO:equivalentObsolete | +| MONDO:0044683 | Orphanet:498700 | MONDO:equivalentObsolete | +| MONDO:0100343 | Orphanet:93604 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 99471488..6809a729 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -2,12 +2,12 @@ | Ontology | Tot terms | Tot excluded | Tot deprecated | Tot deprecated unmapped | Tot mappable _(!excluded, !deprecated)_ | Tot mapped _(mappable)_ | Tot unmapped _(mappable)_ | % unmapped _(mappable)_ | |:-----------------------------------|:------------|:---------------|:-----------------|:--------------------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| | [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | -| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,160 | 79,235 | 98.6% | -| [NCIT](./unmapped_ncit.md) | 187,170 | 166,382 | 5,166 | 5,155 | 15,622 | 3,680 | 11,942 | 76.4% | +| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,161 | 79,234 | 98.6% | +| [NCIT](./unmapped_ncit.md) | 187,170 | 166,382 | 5,166 | 5,154 | 15,622 | 3,682 | 11,940 | 76.4% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 11,001 | 1,827 | 1,470 | 1,470 | 9,174 | 0 | 9,174 | 100.0% | -| [DOID](./unmapped_doid.md) | 13,863 | 2,642 | 2,477 | 2,469 | 11,219 | 11,088 | 131 | 1.2% | -| [OMIM](./unmapped_omim.md) | 29,054 | 19,096 | 1,359 | 1,314 | 8,600 | 8,518 | 82 | 1.0% | +| [DOID](./unmapped_doid.md) | 13,932 | 2,643 | 2,478 | 2,468 | 11,287 | 11,087 | 200 | 1.8% | +| [ORDO](./unmapped_ordo.md) | 10,915 | 1,724 | 1,391 | 1,166 | 9,191 | 9,025 | 166 | 1.8% | +| [OMIM](./unmapped_omim.md) | 29,164 | 19,168 | 1,359 | 1,316 | 8,638 | 8,522 | 116 | 1.3% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index bf1ab08d..2c527a71 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -2,136 +2,205 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:---------------------------------------------------------------------------------------------| -| DOID:0081250 | CIC-rearranged sarcoma | -| DOID:0081377 | COX deficiency, benign infantile mitochondrial myopathy | -| DOID:0081070 | EZB-MYC+ diffuse large B-cell lymphoma | -| DOID:0081071 | EZB-MYC- diffuse large B-cell lymphoma | -| DOID:2938 | Epstein-Barr virus infectious disease | -| DOID:0081370 | LADD syndrome | -| DOID:0070484 | Legius syndrome | -| DOID:0111503 | Li-Fraumeni syndrome 1 | -| DOID:0070439 | North Carolina macular dystrophy | -| DOID:0112103 | Sotos syndrome 1 | -| DOID:0080817 | T2-high asthma | -| DOID:0080818 | T2-low asthma | -| DOID:0070483 | Watson syndrome | -| DOID:0080891 | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | -| DOID:0070468 | Yoon-Bellen neurodevelopmental syndrome | -| DOID:0080816 | adult-onset severe asthma | -| DOID:0081378 | amyotrophic lateral sclerosis type 24 | -| DOID:0081379 | amyotrophic lateral sclerosis type 25 | -| DOID:0081380 | amyotrophic lateral sclerosis type 26 | -| DOID:0081382 | amyotrophic lateral sclerosis type 28 | -| DOID:0050640 | anauxetic dysplasia 1 | -| DOID:0081256 | astrocytoma, IDH-mutant, grade 2 | -| DOID:0081257 | astrocytoma, IDH-mutant, grade 3 | -| DOID:0080877 | astrocytoma, IDH-mutant, grade 4 | -| DOID:0080602 | benign teratoma | -| DOID:0070364 | bradyopsia 2 | -| DOID:0070466 | carpal tunnel syndrome 1 | -| DOID:0070467 | carpal tunnel syndrome 2 | -| DOID:0080748 | chronic inducible urticaria | -| DOID:0080749 | chronic spontaneous urticaria | -| DOID:0070424 | combined oxidative phosphorylation deficiency 44 | -| DOID:0070425 | combined oxidative phosphorylation deficiency 52 | -| DOID:0070426 | combined oxidative phosphorylation deficiency 53 | -| DOID:0070427 | combined oxidative phosphorylation deficiency 54 | -| DOID:0070428 | combined oxidative phosphorylation deficiency 55 | -| DOID:0070429 | combined oxidative phosphorylation deficiency 56 | -| DOID:0070430 | combined oxidative phosphorylation deficiency 57 | -| DOID:0070257 | congenital disorder of glycosylation type IIe | -| DOID:4668 | congenital kyphosis | -| DOID:0081352 | congenital myopathy 20 | -| DOID:0081353 | congenital myopathy 21 | -| DOID:0081354 | congenital myopathy 22A | -| DOID:0081355 | congenital myopathy 22B | -| DOID:0070376 | developmental and epileptic encephalopathy 31B | -| DOID:0080763 | diffuse gastric cancer | -| DOID:0080880 | diffuse glioma, H3 G34 mutant | -| DOID:0080684 | diffuse midline glioma, H3 K27M-mutant | -| DOID:0080578 | digenic disease | -| DOID:0070476 | diphthamide deficiency syndrome | -| DOID:0070477 | diphthamide deficiency syndrome 1 | -| DOID:0070478 | diphthamide deficiency syndrome 2 | -| DOID:0081373 | disabling pansclerotic morphea | -| DOID:0070445 | early-onset dystonia and/or spastic paraplegia | -| DOID:0070471 | early-onset epilepsy 2 | -| DOID:0070472 | early-onset epilepsy 3 | -| DOID:0081359 | epidermolytic hyperkeratosis 2 | -| DOID:0080712 | gene duplication disease | -| DOID:0070454 | hereditary spastic paraplegia 70 | -| DOID:0070455 | hereditary spastic paraplegia 79A | -| DOID:0070456 | hereditary spastic paraplegia 87 | -| DOID:0070457 | hereditary spastic paraplegia 88 | -| DOID:0070458 | hereditary spastic paraplegia 89 | -| DOID:0070459 | hereditary spastic paraplegia 90A | -| DOID:0070460 | hereditary spastic paraplegia 90B | -| DOID:0070431 | hyperphosphatasia with impaired intellectual development syndrome | -| DOID:0070433 | hyperphosphatasia with impaired intellectual development syndrome 1 | -| DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 | -| DOID:0070435 | hyperphosphatasia with impaired intellectual development syndrome 3 | -| DOID:0070436 | hyperphosphatasia with impaired intellectual development syndrome 4 | -| DOID:0070432 | hyperphosphatasia with impaired intellectual development syndrome 5 | -| DOID:0070437 | hyperphosphatasia with impaired intellectual development syndrome 6 | -| DOID:0080812 | intermittent asthma | -| DOID:0081381 | juvenile amyotrophic lateral sclerosis type 27 | -| DOID:4667 | kyphosis | -| DOID:0081371 | lacrimoauriculodentodigital syndrome 2 | -| DOID:0081372 | lacrimoauriculodentodigital syndrome 3 | -| DOID:0070373 | leukoencephalopathy with vanishing white matter 2 | -| DOID:0070372 | leukoencephalopathy with vanishing white matter 3 | -| DOID:0070371 | leukoencephalopathy with vanishing white matter 4 | -| DOID:0070367 | leukoencephalopathy with vanishing white matter 5 | -| DOID:0080894 | lipofibromatosis-like neural tumor | -| DOID:0080704 | medulloblastoma SHH activated and TP53 mutant | -| DOID:0080705 | medulloblastoma SHH activated and TP53 wild-type | -| DOID:0080707 | medulloblastoma non-WNT/non-SHH group 3 | -| DOID:0080708 | medulloblastoma non-WNT/non-SHH group 4 | -| DOID:0070446 | mitochondrial DNA depletion syndrome 16 | -| DOID:0070447 | mitochondrial DNA depletion syndrome 16B | -| DOID:0070448 | mitochondrial DNA depletion syndrome 17 | -| DOID:0070449 | mitochondrial DNA depletion syndrome 18 | -| DOID:0070450 | mitochondrial DNA depletion syndrome 19 | -| DOID:0070451 | mitochondrial DNA depletion syndrome 20 | -| DOID:0070461 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | -| DOID:0070462 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | -| DOID:0070463 | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | -| DOID:0070464 | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | -| DOID:0080823 | near-fatal asthma | -| DOID:0081374 | nemaline myopathy 5B | -| DOID:0081375 | nemaline myopathy 5C | -| DOID:0070443 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | -| DOID:0070469 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | -| DOID:0070444 | neurodevelopmental disorder with language delay and seizures | -| DOID:0070479 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | -| DOID:0070366 | nevoid basal cell carcinoma syndrome 2 | -| DOID:0080826 | nocturnal asthma | -| DOID:0081281 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | -| DOID:0081282 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | -| DOID:0080400 | orofacial cleft 7 | -| DOID:0070442 | paroxysmal nonkinesigenic dyskinesia 3 | -| DOID:0080813 | persistent mild asthma | -| DOID:0080814 | persistent moderate asthma | -| DOID:0080824 | persistent severe asthma | -| DOID:0080881 | pleomorphic xanthoastrocytoma BRAF mutant | -| DOID:0081254 | posterior fossa group A ependymoma | -| DOID:0081255 | posterior fossa group B ependymoma | -| DOID:9373 | postural kyphosis | -| DOID:0070396 | progressive leukoencephalopathy with ovarian failure | -| DOID:0070475 | renal medullary carcinoma | -| DOID:0070438 | retinal macular dystrophy | -| DOID:0070440 | retinal macular dystrophy 3 | -| DOID:0070441 | retinal macular dystrophy 4 | -| DOID:0070480 | schwannomatosis 1 | -| DOID:0070481 | schwannomatosis 2 | -| DOID:0080897 | solitary fibrous tumor/hemangiopericytoma | -| DOID:0081376 | sorbitol dehydrogenase deficiency with peripheral neuropathy | -| DOID:0070482 | spinal neurofibromatosis | -| DOID:0070465 | spinocerebellar ataxia with axonal neuropathy type 3 | -| DOID:0081253 | supratentorial ependymoma, YAP1 fusion–positive | -| DOID:0081252 | supratentorial ependymoma, ZFTA fusion–positive | -| DOID:0080856 | vascular Parkinsonism | -| DOID:0070452 | xanthinuria type I | -| DOID:0070453 | xanthinuria type II | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:---------------------------------------------------------------------------------------------------| +| DOID:0081250 | CIC-rearranged sarcoma | +| DOID:0081377 | COX deficiency, benign infantile mitochondrial myopathy | +| DOID:0081394 | Caroli syndrome | +| DOID:0081070 | EZB-MYC+ diffuse large B-cell lymphoma | +| DOID:0081071 | EZB-MYC- diffuse large B-cell lymphoma | +| DOID:2938 | Epstein-Barr virus infectious disease | +| DOID:0081395 | Harel-Yoon syndrome | +| DOID:0081370 | LADD syndrome | +| DOID:0070484 | Legius syndrome | +| DOID:0111503 | Li-Fraumeni syndrome 1 | +| DOID:0070516 | Mitchell syndrome | +| DOID:0070439 | North Carolina macular dystrophy | +| DOID:0070486 | Parkinson's disease 25 | +| DOID:0070509 | Schinzel Giedion syndrome | +| DOID:0112103 | Sotos syndrome 1 | +| DOID:0080817 | T2-high asthma | +| DOID:0080818 | T2-low asthma | +| DOID:0081386 | TANGO2-related metabolic encephalopathy and arrythmias | +| DOID:0081397 | Vissers-Bodmer syndrome | +| DOID:0070483 | Watson syndrome | +| DOID:0080891 | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | +| DOID:0070468 | Yoon-Bellen neurodevelopmental syndrome | +| DOID:0070473 | Zaki syndrome | +| DOID:0080816 | adult-onset severe asthma | +| DOID:0081378 | amyotrophic lateral sclerosis type 24 | +| DOID:0081379 | amyotrophic lateral sclerosis type 25 | +| DOID:0081380 | amyotrophic lateral sclerosis type 26 | +| DOID:0081382 | amyotrophic lateral sclerosis type 28 | +| DOID:0050640 | anauxetic dysplasia 1 | +| DOID:0081256 | astrocytoma, IDH-mutant, grade 2 | +| DOID:0081257 | astrocytoma, IDH-mutant, grade 3 | +| DOID:0080877 | astrocytoma, IDH-mutant, grade 4 | +| DOID:0081383 | ataxia-oculomotor apraxia type 4 | +| DOID:0081384 | ataxia-telangiectasia-like disorder-1 | +| DOID:0081385 | ataxia-telangiectasia-like disorder-2 | +| DOID:0070488 | atypical dopamine transporter deficiency syndrome | +| DOID:0080602 | benign teratoma | +| DOID:0070364 | bradyopsia 2 | +| DOID:0070466 | carpal tunnel syndrome 1 | +| DOID:0070467 | carpal tunnel syndrome 2 | +| DOID:0070474 | childhood-onset neurodegeneration with brain atrophy | +| DOID:0070515 | chromosome 16p11.2 deletion syndrome, 593-kb | +| DOID:0070470 | chromosome 1p36.33 duplication syndrome | +| DOID:0080748 | chronic inducible urticaria | +| DOID:0080749 | chronic spontaneous urticaria | +| DOID:0070489 | classic dopamine transporter deficiency syndrome | +| DOID:0070424 | combined oxidative phosphorylation deficiency 44 | +| DOID:0070425 | combined oxidative phosphorylation deficiency 52 | +| DOID:0070426 | combined oxidative phosphorylation deficiency 53 | +| DOID:0070427 | combined oxidative phosphorylation deficiency 54 | +| DOID:0070428 | combined oxidative phosphorylation deficiency 55 | +| DOID:0070429 | combined oxidative phosphorylation deficiency 56 | +| DOID:0070430 | combined oxidative phosphorylation deficiency 57 | +| DOID:0070257 | congenital disorder of glycosylation type IIe | +| DOID:4668 | congenital kyphosis | +| DOID:0081352 | congenital myopathy 20 | +| DOID:0081353 | congenital myopathy 21 | +| DOID:0081354 | congenital myopathy 22A | +| DOID:0081355 | congenital myopathy 22B | +| DOID:0081392 | corticobasal degeneration syndrome | +| DOID:0060912 | craniosynostosis 7 | +| DOID:0070376 | developmental and epileptic encephalopathy 31B | +| DOID:0080763 | diffuse gastric cancer | +| DOID:0080880 | diffuse glioma, H3 G34 mutant | +| DOID:0080684 | diffuse midline glioma, H3 K27M-mutant | +| DOID:0080578 | digenic disease | +| DOID:0070476 | diphthamide deficiency syndrome | +| DOID:0070477 | diphthamide deficiency syndrome 1 | +| DOID:0070478 | diphthamide deficiency syndrome 2 | +| DOID:0081373 | disabling pansclerotic morphea | +| DOID:0070487 | dopamine transporter deficiency syndrome | +| DOID:0070445 | early-onset dystonia and/or spastic paraplegia | +| DOID:0070471 | early-onset epilepsy 2 | +| DOID:0070472 | early-onset epilepsy 3 | +| DOID:0081359 | epidermolytic hyperkeratosis 2 | +| DOID:0060917 | facioscapulohumeral muscular dystrophy 3 | +| DOID:0060918 | facioscapulohumeral muscular dystrophy 4 | +| DOID:0080712 | gene duplication disease | +| DOID:0070454 | hereditary spastic paraplegia 70 | +| DOID:0070455 | hereditary spastic paraplegia 79A | +| DOID:0070456 | hereditary spastic paraplegia 87 | +| DOID:0070457 | hereditary spastic paraplegia 88 | +| DOID:0070458 | hereditary spastic paraplegia 89 | +| DOID:0070459 | hereditary spastic paraplegia 90A | +| DOID:0070460 | hereditary spastic paraplegia 90B | +| DOID:0081398 | holoprosencephaly 12 | +| DOID:0070431 | hyperphosphatasia with impaired intellectual development syndrome | +| DOID:0070433 | hyperphosphatasia with impaired intellectual development syndrome 1 | +| DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 | +| DOID:0070435 | hyperphosphatasia with impaired intellectual development syndrome 3 | +| DOID:0070436 | hyperphosphatasia with impaired intellectual development syndrome 4 | +| DOID:0070432 | hyperphosphatasia with impaired intellectual development syndrome 5 | +| DOID:0070437 | hyperphosphatasia with impaired intellectual development syndrome 6 | +| DOID:0070490 | infantile parkinsonism-dystonia 2 | +| DOID:0070510 | inflammatory poikiloderma with hair abnormalities and acral keratoses | +| DOID:0080812 | intermittent asthma | +| DOID:0081381 | juvenile amyotrophic lateral sclerosis type 27 | +| DOID:4667 | kyphosis | +| DOID:0081371 | lacrimoauriculodentodigital syndrome 2 | +| DOID:0081372 | lacrimoauriculodentodigital syndrome 3 | +| DOID:0070373 | leukoencephalopathy with vanishing white matter 2 | +| DOID:0070372 | leukoencephalopathy with vanishing white matter 3 | +| DOID:0070371 | leukoencephalopathy with vanishing white matter 4 | +| DOID:0070367 | leukoencephalopathy with vanishing white matter 5 | +| DOID:0080894 | lipofibromatosis-like neural tumor | +| DOID:0081389 | logopenic progressive aphasia | +| DOID:0080704 | medulloblastoma SHH activated and TP53 mutant | +| DOID:0080705 | medulloblastoma SHH activated and TP53 wild-type | +| DOID:0080707 | medulloblastoma non-WNT/non-SHH group 3 | +| DOID:0080708 | medulloblastoma non-WNT/non-SHH group 4 | +| DOID:0070508 | metabolic dysfunction and alcohol associated liver disease | +| DOID:0070446 | mitochondrial DNA depletion syndrome 16 | +| DOID:0070447 | mitochondrial DNA depletion syndrome 16B | +| DOID:0070448 | mitochondrial DNA depletion syndrome 17 | +| DOID:0070449 | mitochondrial DNA depletion syndrome 18 | +| DOID:0070450 | mitochondrial DNA depletion syndrome 19 | +| DOID:0070451 | mitochondrial DNA depletion syndrome 20 | +| DOID:0070491 | mitochondrial complex IV deficiency nuclear type 1 | +| DOID:0070496 | mitochondrial complex IV deficiency nuclear type 10 | +| DOID:0070497 | mitochondrial complex IV deficiency nuclear type 11 | +| DOID:0070498 | mitochondrial complex IV deficiency nuclear type 12 | +| DOID:0070499 | mitochondrial complex IV deficiency nuclear type 14 | +| DOID:0070500 | mitochondrial complex IV deficiency nuclear type 15 | +| DOID:0070501 | mitochondrial complex IV deficiency nuclear type 16 | +| DOID:0070502 | mitochondrial complex IV deficiency nuclear type 17 | +| DOID:0070503 | mitochondrial complex IV deficiency nuclear type 18 | +| DOID:0070504 | mitochondrial complex IV deficiency nuclear type 19 | +| DOID:0070505 | mitochondrial complex IV deficiency nuclear type 20 | +| DOID:0070506 | mitochondrial complex IV deficiency nuclear type 21 | +| DOID:0070507 | mitochondrial complex IV deficiency nuclear type 22 | +| DOID:0070485 | mitochondrial complex IV deficiency nuclear type 23 | +| DOID:0070492 | mitochondrial complex IV deficiency nuclear type 3 | +| DOID:0070493 | mitochondrial complex IV deficiency nuclear type 4 | +| DOID:0070494 | mitochondrial complex IV deficiency nuclear type 7 | +| DOID:0070495 | mitochondrial complex IV deficiency nuclear type 8 | +| DOID:0070461 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | +| DOID:0070462 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | +| DOID:0070463 | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | +| DOID:0070464 | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | +| DOID:0080823 | near-fatal asthma | +| DOID:0081374 | nemaline myopathy 5B | +| DOID:0081375 | nemaline myopathy 5C | +| DOID:0081396 | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | +| DOID:0070443 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | +| DOID:0070513 | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | +| DOID:0070514 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | +| DOID:0070469 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | +| DOID:0070512 | neurodevelopmental disorder with hypotonia and speech delay | +| DOID:0070444 | neurodevelopmental disorder with language delay and seizures | +| DOID:0081387 | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | +| DOID:0070479 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | +| DOID:0070366 | nevoid basal cell carcinoma syndrome 2 | +| DOID:0080826 | nocturnal asthma | +| DOID:0060929 | non-syndromic X-linked intellectual developmental disorder 111 | +| DOID:0081281 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | +| DOID:0081282 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | +| DOID:0081393 | organophosphate-induced delayed polyneuropathy | +| DOID:0080400 | orofacial cleft 7 | +| DOID:0060920 | otosclerosis 1 | +| DOID:0060927 | otosclerosis 10 | +| DOID:0060928 | otosclerosis 11 | +| DOID:0060921 | otosclerosis 2 | +| DOID:0060922 | otosclerosis 3 | +| DOID:0060923 | otosclerosis 4 | +| DOID:0060924 | otosclerosis 5 | +| DOID:0060925 | otosclerosis 7 | +| DOID:0060926 | otosclerosis 8 | +| DOID:0070442 | paroxysmal nonkinesigenic dyskinesia 3 | +| DOID:0080813 | persistent mild asthma | +| DOID:0080814 | persistent moderate asthma | +| DOID:0080824 | persistent severe asthma | +| DOID:0080881 | pleomorphic xanthoastrocytoma BRAF mutant | +| DOID:0070511 | polyhydramnios, megalencephaly, and symptomatic epilepsy | +| DOID:0081254 | posterior fossa group A ependymoma | +| DOID:0081255 | posterior fossa group B ependymoma | +| DOID:9373 | postural kyphosis | +| DOID:0081388 | primary progressive aphasia | +| DOID:0070396 | progressive leukoencephalopathy with ovarian failure | +| DOID:0081390 | progressive non-fluent aphasia | +| DOID:0060916 | proteasome-associated autoinflammatory syndrome 3 | +| DOID:0060913 | proteosome-associated autoinflammatory syndrome | +| DOID:0060914 | proteosome-associated autoinflammatory syndrome 2 | +| DOID:0060915 | proteosome-associated autoinflammatory syndrome 4 | +| DOID:0060919 | proteosome-associated autoinflammatory syndrome 5 | +| DOID:0070475 | renal medullary carcinoma | +| DOID:0070438 | retinal macular dystrophy | +| DOID:0070440 | retinal macular dystrophy 3 | +| DOID:0070441 | retinal macular dystrophy 4 | +| DOID:0070480 | schwannomatosis 1 | +| DOID:0070481 | schwannomatosis 2 | +| DOID:0081391 | semantic dementia | +| DOID:0080897 | solitary fibrous tumor/hemangiopericytoma | +| DOID:0081376 | sorbitol dehydrogenase deficiency with peripheral neuropathy | +| DOID:0070482 | spinal neurofibromatosis | +| DOID:0070465 | spinocerebellar ataxia with axonal neuropathy type 3 | +| DOID:0081253 | supratentorial ependymoma, YAP1 fusion–positive | +| DOID:0081252 | supratentorial ependymoma, ZFTA fusion–positive | +| DOID:0080856 | vascular Parkinsonism | +| DOID:0070452 | xanthinuria type I | +| DOID:0070453 | xanthinuria type II | \ No newline at end of file diff --git a/docs/reports/unmapped_icd10cm.md b/docs/reports/unmapped_icd10cm.md index aece995b..f7746a3b 100644 --- a/docs/reports/unmapped_icd10cm.md +++ b/docs/reports/unmapped_icd10cm.md @@ -79165,7 +79165,6 @@ | ICD10CM:P96.3 | Wide cranial sutures of newborn | | ICD10CM:E85.82 | Wild-type transthyretin-related (ATTR) amyloidosis | | ICD10CM:Q93.82 | Williams syndrome | -| ICD10CM:E83.01 | Wilson's disease | | ICD10CM:P27.0 | Wilson-Mikity syndrome | | ICD10CM:P96.2 | Withdrawal symptoms from therapeutic use of drugs in newborn | | ICD10CM:M21.33 | Wrist drop (acquired) | diff --git a/docs/reports/unmapped_ncit.md b/docs/reports/unmapped_ncit.md index fab270b9..32b14a3d 100644 --- a/docs/reports/unmapped_ncit.md +++ b/docs/reports/unmapped_ncit.md @@ -3896,7 +3896,6 @@ | NCIT:C191394 | Kidney Hemangioblastoma | | NCIT:C159211 | Kidney Hemangioma | | NCIT:C159225 | Kidney Large Cell Neuroendocrine Carcinoma | -| NCIT:C159209 | Kidney Leiomyoma | | NCIT:C159214 | Kidney Lymphangioma | | NCIT:C63532 | Kidney Lymphoma | | NCIT:C158046 | Kidney Mixed Epithelial and Stromal Tumor Family | @@ -8751,7 +8750,6 @@ | NCIT:C168747 | SAMD9L-Associated Hereditary Myelodysplastic Syndrome | | NCIT:C21880 | SJL Disease of the Mouse Hematologic System | | NCIT:C186703 | SMARCB1 Schwannomatosis 1 | -| NCIT:C189247 | SMARCB1-Deficient Kidney Medullary Carcinoma | | NCIT:C187445 | ST2 Diffuse Large B-Cell Lymphoma | | NCIT:C129927 | Sacral Chordoma | | NCIT:C168674 | Sacral Spine Neoplasm | diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 5fb5ded6..3ef0fd61 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -6,36 +6,41 @@ |:--------------|:------------------------------------------------------------------------------------------------------------| | OMIMPS:604498 | Amegakaryocytic thrombocytopenia, congenital | | OMIMPS:109400 | Basal cell nevus syndrome | -| OMIMPS:135150 | Birt-Hogg-Dube syndrome | | OMIMPS:613652 | C1q deficiency | | OMIMPS:301108 | Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | | OMIMPS:609628 | Chronic recurrent multifocal osteomyelitis | | OMIMPS:164210 | Craniofacial Microsomia | | OMIMPS:113800 | Epidermolytic hyperkeratosis | | OMIMPS:617290 | Epilepsy, early-onset | +| OMIMPS:305450 | FG syndrome | | OMIMPS:605899 | Glycine encephalopathy | | OMIMPS:141200 | Hematuria, benign familial | -| OMIMPS:616355 | Houte-Janssens syndrome | +| OMIMPS:616355 | Houge-Janssens syndrome | +| OMIMPS:619382 | Leber hereditary optic neuropathy, autosomal recessive | | OMIMPS:151623 | Li-Fraumeni syndrome | -| OMIMPS:278000 | Lysosomal acid lipase deficiency | | OMIMPS:609015 | Mitochondrial trifunctional protein deficiency | | OMIMPS:167030 | Nephrolithiasis, calcium oxalate | | OMIMPS:164300 | Oculopharyngeal muscular dystrophy | | OMIMPS:608415 | Prolonged electroretinal response suppression | | OMIMPS:177735 | Pseudohypoaldosteronism, type I | +| OMIM:620655 | alfadhel syndrome | | OMIM:620536 | alport syndrome 3b, autosomal recessive | | OMIM:620481 | amegakaryocytic thrombocytopenia, congenital, 2 | | OMIM:620519 | arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | | OMIM:620545 | arthrogryposis, distal, iia 12 | | OMIM:620343 | basal cell nevus syndrome 2 | -| OMIM:620459 | birt-hogg-dube syndrome 2 | | OMIM:620486 | bleeding disorder, platelet-type, 25 | | OMIM:620321 | c1q deficiency 2 | | OMIM:620322 | c1q deficiency 3 | +| OMIM:620635 | cardiomyopathy, dilated, 2j | | OMIM:301108 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | | OMIM:620425 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | +| OMIM:620570 | ciliary dyskinesia, primary, 52 | +| OMIM:620642 | ciliary dyskinesia, primary, 53 | +| OMIM:620646 | combined oxidative phosphorylation deficiency 59 | | OMIM:620546 | congenital disorder of glycosylation, iia iibb | | OMIM:620470 | congenital smooth muscle hamartoma, with or without hemihypertrophy | +| OMIM:620568 | cornelia lange lange syndrome 6 | | OMIM:620469 | cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | | OMIM:620444 | craniofacial microsomia 2 | | OMIM:620558 | craniometadiaphyseal osteosclerosis with hip dysplasia | @@ -44,23 +49,41 @@ | OMIM:620537 | developmental and epileptic encephalopathy 112 | | OMIM:620540 | developmental delay with or without epilepsy | | OMIM:620535 | developmental delay, dysmorphic facies, and brain anomalies | +| OMIM:620651 | diabetes, deafness, developmental delay, and short stature syndrome | | OMIM:620461 | encephalitis, acute, infection-induced, susceptibility to, 12 | | OMIM:620150 | epidermolytic hyperkeratosis 2 | | OMIM:620465 | epilepsy, early-onset, 3, with or without developmental delay | | OMIM:620511 | fliedner-zweier syndrome | +| OMIM:620601 | garg-mishra progeroid syndrome | | OMIM:620398 | glycine encephalopathy 2 | | OMIM:613035 | hearing loss, noise-induced, susceptibility to | | OMIM:620320 | hematuria, benign familial, 2 | +| OMIM:620662 | hoxha-aliu syndrome | | OMIM:620532 | hyper-ige syndrome 6, autosomal dominant, with recurrent infections | | OMIM:620507 | ichthyosis with erythrokeratoderma | | OMIM:620514 | immune dysregulation, autoimmunity, and autoinflammation | +| OMIM:620565 | immunodeficiency 113 with autoimmunity and autoinflammation | +| OMIM:620603 | immunodeficiency 114, folate-responsive | +| OMIM:620632 | immunodeficiency 115 with autoinflammation | +| OMIM:620668 | immunodeficiency 117 | +| OMIM:620670 | immunodeficiency, common variable, 15 | +| OMIM:620653 | intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | +| OMIM:620569 | leber-like hereditary optic neuropathy, autosomal recessive 2 | +| OMIM:620675 | leukodystrophy, hypomyelinating, 27 | | OMIM:620312 | leukoencephalopathy with vanishing white matter 2 | | OMIM:620313 | leukoencephalopathy with vanishing white matter 3 | | OMIM:620314 | leukoencephalopathy with vanishing white matter 4 | | OMIM:620315 | leukoencephalopathy with vanishing white matter 5 | +| OMIM:620680 | lipodystrophy, congenital generalized, iia 5 | +| OMIM:620679 | lipodystrophy, familial partial, iia 8 | +| OMIM:620609 | long-olsen-distelmaier syndrome | | OMIM:620410 | low density lipoprotein cholesterol level quantitative trait locus 3 | +| OMIM:301114 | lui-jee-baron syndrome | +| OMIM:620602 | lymphatic malformation 14 | | OMIM:620300 | mitochondrial trifunctional protein deficiency 2 | | OMIM:620374 | nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | +| OMIM:620669 | neurodegeneration with brain iron accumulation 9 | +| OMIM:620636 | neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | | OMIM:620489 | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | | OMIM:620494 | neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies | | OMIM:620502 | neurodevelopmental disorder with language delay and variable cognitive abnormalities | @@ -69,19 +92,30 @@ | OMIM:620542 | neuronopathy, distal hereditary motor, autosomal recessive 10 | | OMIM:620402 | neuronopathy, distal hereditary motor, autosomal recessive 9 | | OMIM:620534 | neutropenia, severe congenital, 10, autosomal recessive | +| OMIM:620674 | neutropenia, severe congenital, 11, autosomal dominant | | OMIM:620460 | oculopharyngeal muscular dystrophy 2 | +| OMIM:620610 | oocyte/zygote/embryo maturation arrest 21 | | OMIM:620550 | optic atrophy 14 | +| OMIM:620583 | optic atrophy 15 | +| OMIM:620629 | optic atrophy 16 | +| OMIM:620639 | osteogenesis imperfecta, iia 23 | +| OMIM:620576 | otosclerosis 11 | | OMIM:620482 | parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | | OMIM:620548 | premature ovarian failure 22 | +| OMIM:620647 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 | | OMIM:620344 | prolonged electroretinal response suppression 2 | +| OMIM:620666 | spastic ataxia 10, autosomal recessive | | OMIM:620512 | spastic paraplegia 18a, autosomal dominant | +| OMIM:620606 | spastic paraplegia 72b, autosomal recessive | | OMIM:620538 | spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | | OMIM:620490 | spermatogenic failure 85 | | OMIM:620499 | spermatogenic failure 86 | | OMIM:620500 | spermatogenic failure 87 | | OMIM:620547 | spermatogenic failure 88 | +| OMIM:620663 | spondyloepimetaphyseal dysplasia, guo-campeau iia | +| OMIM:620641 | tan-almurshedi syndrome | | OMIM:620484 | thrombocytopenia 10 | -| OMIM:620475 | thrombocytopenia 8, with dysmorphic features and developmental delay | +| OMIM:620654 | thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | | OMIM:620478 | thrombocytopenia 9 | | OMIM:620483 | variegate porphyria, childhood-onset | | OMIM:620510 | xerosis and growth failure with immune and pulmonary dysfunction syndrome | diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index b90672b0..9d1946b8 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -2,9179 +2,171 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/ordo_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:----------------|:--------------------------------------------------------------------------------------------------------------------------------------------| -| Orphanet:276413 | 10q22.3q23.3 microdeletion syndrome | -| Orphanet:276422 | 10q22.3q23.3 microduplication syndrome | -| Orphanet:300305 | 11p15.4 microduplication syndrome | -| Orphanet:444002 | 11q22.2q22.3 microdeletion syndrome | -| Orphanet:313884 | 12p12.1 microdeletion syndrome | -| Orphanet:94063 | 12q14 microdeletion syndrome | -| Orphanet:289513 | 12q15q21.1 microdeletion syndrome | -| Orphanet:412035 | 13q12.3 microdeletion syndrome | -| Orphanet:261120 | 14q11.2 microdeletion syndrome | -| Orphanet:261229 | 14q11.2 microduplication syndrome | -| Orphanet:264200 | 14q22q23 microdeletion syndrome | -| Orphanet:401935 | 14q24.1q24.3 microdeletion syndrome | -| Orphanet:488280 | 14q32 duplication syndrome | -| Orphanet:314585 | 15q overgrowth syndrome | -| Orphanet:261183 | 15q11.2 microdeletion syndrome | -| Orphanet:238446 | 15q11q13 microduplication syndrome | -| Orphanet:199318 | 15q13.3 microdeletion syndrome | -| Orphanet:261190 | 15q14 microdeletion syndrome | -| Orphanet:94065 | 15q24 microdeletion syndrome | -| Orphanet:261211 | 16p11.2p12.2 microdeletion syndrome | -| Orphanet:261204 | 16p11.2p12.2 microduplication syndrome | -| Orphanet:485405 | 16p12.1p12.3 triplication syndrome | -| Orphanet:261236 | 16p13.11 microdeletion syndrome | -| Orphanet:261243 | 16p13.11 microduplication syndrome | -| Orphanet:96078 | 16p13.3 microduplication syndrome | -| Orphanet:352629 | 16q24.1 microdeletion syndrome | -| Orphanet:261250 | 16q24.3 microdeletion syndrome | -| Orphanet:1713 | 17p11.2 microduplication syndrome | -| Orphanet:217385 | 17p13.3 microduplication syndrome | -| Orphanet:97685 | 17q11 microdeletion syndrome | -| Orphanet:139474 | 17q11.2 microduplication syndrome | -| Orphanet:261265 | 17q12 microdeletion syndrome | -| Orphanet:261272 | 17q12 microduplication syndrome | -| Orphanet:363958 | 17q21.31 microdeletion syndrome | -| Orphanet:217340 | 17q21.31 microduplication syndrome | -| Orphanet:261279 | 17q23.1q23.2 microdeletion syndrome | -| Orphanet:529962 | 17q24.2 microdeletion syndrome | -| Orphanet:254346 | 19p13.12 microdeletion syndrome | -| Orphanet:357001 | 19p13.13 microdeletion syndrome | -| Orphanet:447980 | 19p13.3 microduplication syndrome | -| Orphanet:217346 | 19q13.11 microdeletion syndrome | -| Orphanet:293948 | 1p21.3 microdeletion syndrome | -| Orphanet:401986 | 1p31p32 microdeletion syndrome | -| Orphanet:456298 | 1p35.2 microdeletion syndrome | -| Orphanet:1606 | 1p36 deletion syndrome | -| Orphanet:250989 | 1q21.1 microdeletion syndrome | -| Orphanet:250994 | 1q21.1 microduplication syndrome | -| Orphanet:250999 | 1q41q42 microdeletion syndrome | -| Orphanet:238769 | 1q44 microdeletion syndrome | -| Orphanet:79154 | 2-aminoadipic 2-oxoadipic aciduria | -| Orphanet:19 | 2-hydroxyglutaric aciduria | -| Orphanet:79157 | 2-methylbutyryl-CoA dehydrogenase deficiency | -| Orphanet:261295 | 20p12.3 microdeletion syndrome | -| Orphanet:313781 | 20p13 microdeletion syndrome | -| Orphanet:444051 | 20q11.2 microdeletion syndrome | -| Orphanet:363659 | 20q11.2 microduplication syndrome | -| Orphanet:261311 | 20q13.33 microdeletion syndrome | -| Orphanet:574 | 21q deletion syndrome | -| Orphanet:261323 | 21q22.11q22.12 microdeletion syndrome | -| Orphanet:567 | 22q11.2 deletion syndrome | -| Orphanet:1727 | 22q11.2 duplication syndrome | -| Orphanet:363680 | 2p13.2 microdeletion syndrome | -| Orphanet:261349 | 2p15p16.1 microdeletion syndrome | -| Orphanet:163693 | 2p21 microdeletion syndrome | -| Orphanet:369881 | 2p21 microdeletion syndrome without cystinuria | -| Orphanet:228402 | 2q23.1 microdeletion syndrome | -| Orphanet:313947 | 2q23.1 microduplication syndrome | -| Orphanet:1617 | 2q24 microdeletion syndrome | -| Orphanet:251014 | 2q31.1 microdeletion syndrome | -| Orphanet:251019 | 2q32q33 microdeletion syndrome | -| Orphanet:1001 | 2q37 microdeletion syndrome | -| Orphanet:20 | 3-hydroxy-3-methylglutaric aciduria | -| Orphanet:35701 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | -| Orphanet:309127 | 3-hydroxyacyl-CoA dehydrogenase deficiency | -| Orphanet:939 | 3-hydroxyisobutyric aciduria | -| Orphanet:6 | 3-methylcrotonyl-CoA carboxylase deficiency | -| Orphanet:289902 | 3-methylglutaconic aciduria | -| Orphanet:67046 | 3-methylglutaconic aciduria type 1 | -| Orphanet:67047 | 3-methylglutaconic aciduria type 3 | -| Orphanet:67048 | 3-methylglutaconic aciduria type 4 | -| Orphanet:445038 | 3-methylglutaconic aciduria type 7 | -| Orphanet:505208 | 3-methylglutaconic aciduria type 8 | -| Orphanet:505216 | 3-methylglutaconic aciduria type 9 | -| Orphanet:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | -| Orphanet:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | -| Orphanet:7 | 3C syndrome | -| Orphanet:2616 | 3M syndrome | -| Orphanet:293843 | 3MC syndrome | -| Orphanet:435638 | 3p25.3 microdeletion syndrome | -| Orphanet:1621 | 3q13 microdeletion syndrome | -| Orphanet:96095 | 3q26 microduplication syndrome | -| Orphanet:356947 | 3q26q27 microdeletion syndrome | -| Orphanet:397695 | 3q27.3 microdeletion syndrome | -| Orphanet:65286 | 3q29 microdeletion syndrome | -| Orphanet:251038 | 3q29 microduplication syndrome | -| Orphanet:1772 | 45,X/46,XY mixed gonadal dysgenesis | -| Orphanet:2982 | 46,XX difference of sex development | -| Orphanet:98078 | 46,XX difference of sex development induced by androgens excess | -| Orphanet:325093 | 46,XX difference of sex development induced by endogenous maternal-derived androgen | -| Orphanet:325099 | 46,XX difference of sex development induced by exogenous maternal-derived androgen | -| Orphanet:90776 | 46,XX difference of sex development induced by fetal androgens excess | -| Orphanet:325061 | 46,XX difference of sex development induced by fetoplacental androgens excess | -| Orphanet:91144 | 46,XX difference of sex development induced by maternal-derived androgen | -| Orphanet:2973 | 46,XX difference of sex development-anorectal anomalies syndrome | -| Orphanet:2975 | 46,XX difference of sex development-skeletal anomalies syndrome | -| Orphanet:325055 | 46,XX disorder of gonadal development | -| Orphanet:243 | 46,XX gonadal dysgenesis | -| Orphanet:444048 | 46,XX ovarian dysgenesis-short stature syndrome | -| Orphanet:2138 | 46,XX ovotesticular difference of sex development | -| Orphanet:393 | 46,XX testicular difference of sex development | -| Orphanet:242 | 46,XY complete gonadal dysgenesis | -| Orphanet:98085 | 46,XY difference of sex development | -| Orphanet:752 | 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | -| Orphanet:753 | 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency | -| Orphanet:90796 | 46,XY difference of sex development due to isolated 17,20-lyase deficiency | -| Orphanet:443087 | 46,XY difference of sex development due to testicular 17,20-desmolase deficiency | -| Orphanet:325351 | 46,XY difference of sex development of endocrine origin | -| Orphanet:325632 | 46,XY difference of sex development of gynecological interest | -| Orphanet:168558 | 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency | -| Orphanet:325118 | 46,XY disorder of gonadal development | -| Orphanet:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | -| Orphanet:325345 | 46,XY ovotesticular difference of sex development | -| Orphanet:251510 | 46,XY partial gonadal dysgenesis | -| Orphanet:8 | 47,XYY syndrome | -| Orphanet:96263 | 48,XXXY syndrome | -| Orphanet:10 | 48,XXYY syndrome | -| Orphanet:99329 | 48,XYYY syndrome | -| Orphanet:96264 | 49,XXXXY syndrome | -| Orphanet:261534 | 49,XXXYY syndrome | -| Orphanet:99330 | 49,XYYYY syndrome | -| Orphanet:289494 | 4H leukodystrophy | -| Orphanet:96072 | 4p16.3 microduplication syndrome | -| Orphanet:238750 | 4q21 microdeletion syndrome | -| Orphanet:502437 | 4q25 proximal deletion syndrome | -| Orphanet:217064 | 5-fluorouracil poisoning | -| Orphanet:33572 | 5-oxoprolinase deficiency | -| Orphanet:329802 | 5p13 microduplication syndrome | -| Orphanet:228384 | 5q14.3 microdeletion syndrome | -| Orphanet:228415 | 5q35 microduplication syndrome | -| Orphanet:99135 | 6-phosphogluconate dehydrogenase deficiency | -| Orphanet:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | -| Orphanet:251046 | 6p22 microdeletion syndrome | -| Orphanet:75857 | 6q terminal deletion syndrome | -| Orphanet:171829 | 6q16 microdeletion syndrome | -| Orphanet:251056 | 6q25 microdeletion syndrome | -| Orphanet:314034 | 7p22.1 microduplication syndrome | -| Orphanet:96121 | 7q11.23 microduplication syndrome | -| Orphanet:251061 | 7q31 microdeletion syndrome | -| Orphanet:96092 | 8p inverted duplication/deletion syndrome | -| Orphanet:251066 | 8p11.2 deletion syndrome | -| Orphanet:251076 | 8p23.1 duplication syndrome | -| Orphanet:251071 | 8p23.1 microdeletion syndrome | -| Orphanet:228399 | 8q12 microduplication syndrome | -| Orphanet:284160 | 8q21.11 microdeletion syndrome | -| Orphanet:178303 | 8q22.1 microdeletion syndrome | -| Orphanet:508488 | 8q24.3 microdeletion syndrome | -| Orphanet:324313 | 9p13 microdeletion syndrome | -| Orphanet:531151 | 9q21.13 microdeletion syndrome | -| Orphanet:401923 | 9q31.1q31.3 microdeletion syndrome | -| Orphanet:495818 | 9q33.3q34.11 microdeletion syndrome | -| Orphanet:85445 | AA amyloidosis | -| Orphanet:93560 | AApoAI amyloidosis | -| Orphanet:238269 | AApoAII amyloidosis | -| Orphanet:439232 | AApoAIV amyloidosis | -| Orphanet:324723 | ABeta amyloidosis, Arctic type | -| Orphanet:100006 | ABeta amyloidosis, Dutch type | -| Orphanet:324708 | ABeta amyloidosis, Iowa type | -| Orphanet:324713 | ABeta amyloidosis, Italian type | -| Orphanet:324718 | ABetaA21G amyloidosis | -| Orphanet:324703 | ABetaL34V amyloidosis | -| Orphanet:97345 | ABri amyloidosis | -| Orphanet:99892 | ACTH-dependent Cushing syndrome | -| Orphanet:100008 | ACys amyloidosis | -| Orphanet:404448 | ADNP syndrome | -| Orphanet:978 | ADULT syndrome | -| Orphanet:97346 | ADan amyloidosis | -| Orphanet:93562 | AFib amyloidosis | -| Orphanet:85448 | AGel amyloidosis | -| Orphanet:442582 | AH amyloidosis | -| Orphanet:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | -| Orphanet:250977 | AICA-ribosiduria | -| Orphanet:90081 | AIDS wasting syndrome | -| Orphanet:79085 | AKT2-related familial partial lipodystrophy | -| Orphanet:85443 | AL amyloidosis | -| Orphanet:35664 | ALDH18A1-related De Barsy syndrome | -| Orphanet:439224 | ALECT2 amyloidosis | -| Orphanet:79327 | ALG1-CDG | -| Orphanet:280071 | ALG11-CDG | -| Orphanet:79324 | ALG12-CDG | -| Orphanet:324422 | ALG13-CDG | -| Orphanet:79326 | ALG2-CDG | -| Orphanet:79321 | ALG3-CDG | -| Orphanet:79320 | ALG6-CDG | -| Orphanet:79325 | ALG8-CDG | -| Orphanet:79328 | ALG9-CDG | -| Orphanet:300903 | ALK-negative anaplastic large cell lymphoma | -| Orphanet:300895 | ALK-positive anaplastic large cell lymphoma | -| Orphanet:364043 | ALK-positive large B-cell lymphoma | -| Orphanet:597887 | ALPI-related inflammatory bowel disease | -| Orphanet:93561 | ALys amyloidosis | -| Orphanet:157954 | ANE syndrome | -| Orphanet:356996 | ANK3-related intellectual disability-sleep disturbance syndrome | -| Orphanet:247806 | APC-related attenuated familial adenomatous polyposis | -| Orphanet:1133 | AREDYLD syndrome | -| Orphanet:423655 | ARX-related encephalopathy-brain malformation spectrum | -| Orphanet:182079 | ARX-related epileptic encephalopathy | -| Orphanet:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | -| Orphanet:514980 | ATP13A2-related parkinsonism | -| Orphanet:85451 | ATTRV122I amyloidosis | -| Orphanet:85447 | ATTRV30M amyloidosis | -| Orphanet:401911 | AXIN2-related attenuated familial adenomatous polyposis | -| Orphanet:915 | Aarskog-Scott syndrome | -| Orphanet:916 | Aase-Smith syndrome | -| Orphanet:14 | Abetalipoproteinemia | -| Orphanet:920 | Ablepharon macrostomia syndrome | -| Orphanet:99089 | Abnormal number of coronary ostia | -| Orphanet:99050 | Abnormal origin of right or left pulmonary artery from the aorta | -| Orphanet:1138 | Abnormal origin of the pulmonary artery | -| Orphanet:921 | Abruzzo-Erickson syndrome | -| Orphanet:2310 | Absence deformity of leg-cataract syndrome | -| Orphanet:1658 | Absence of fingerprints-congenital milia syndrome | -| Orphanet:99112 | Absence of innominate vein | -| Orphanet:980 | Absence of the pulmonary artery | -| Orphanet:180142 | Absence of uterine body | -| Orphanet:3016 | Absent radius-anogenital anomalies syndrome | -| Orphanet:2951 | Absent thumb-short stature-immunodeficiency syndrome | -| Orphanet:3328 | Absent tibia-polydactyly-arachnoid cyst syndrome | -| Orphanet:945 | Acalvaria | -| Orphanet:79468 | Acanthokeratolytic verrucous nevus | -| Orphanet:90301 | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | -| Orphanet:926 | Acatalasemia | -| Orphanet:99061 | Accessory mitral valve tissue | -| Orphanet:674 | Accessory pancreas | -| Orphanet:95462 | Accessory tricuspid valve tissue | -| Orphanet:48818 | Aceruloplasminemia | -| Orphanet:99736 | Acetazolamide-responsive myotonia | -| Orphanet:929 | Achalasia-microcephaly syndrome | -| Orphanet:294983 | Acheiria | -| Orphanet:931 | Acheiropodia | -| Orphanet:932 | Achondrogenesis | -| Orphanet:93299 | Achondrogenesis type 1A | -| Orphanet:93298 | Achondrogenesis type 1B | -| Orphanet:93296 | Achondrogenesis type 2 | -| Orphanet:15 | Achondroplasia | -| Orphanet:49382 | Achromatopsia | -| Orphanet:424046 | Acinar cell carcinoma of pancreas | -| Orphanet:40366 | Acitretin/etretinate embryopathy | -| Orphanet:454700 | Acquired Creutzfeldt-Jakob disease | -| Orphanet:209013 | Acquired amyloid peripheral neuropathy | -| Orphanet:90065 | Acquired aneurysmal subarachnoid hemorrhage | -| Orphanet:91385 | Acquired angioedema | -| Orphanet:100056 | Acquired angioedema type 1 | -| Orphanet:100055 | Acquired angioedema type 2 | -| Orphanet:528663 | Acquired angioedema with C1Inh deficiency | -| Orphanet:247242 | Acquired ataxia | -| Orphanet:95626 | Acquired central diabetes insipidus | -| Orphanet:101963 | Acquired chronic primary adrenal insufficiency | -| Orphanet:228285 | Acquired cutis laxa | -| Orphanet:404514 | Acquired cystic disease-associated renal cell carcinoma | -| Orphanet:228218 | Acquired dermis elastic tissue disorder | -| Orphanet:228221 | Acquired dermis elastic tissue disorder with decreased elastic tissue | -| Orphanet:228224 | Acquired dermis elastic tissue disorder with increased elastic tissue | -| Orphanet:599490 | Acquired factor V deficiency | -| Orphanet:599495 | Acquired factor VII deficiency | -| Orphanet:599501 | Acquired factor X deficiency | -| Orphanet:599507 | Acquired factor XI deficiency | -| Orphanet:599513 | Acquired factor XIII deficiency | -| Orphanet:79086 | Acquired generalized lipodystrophy | -| Orphanet:158057 | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease | -| Orphanet:599480 | Acquired hemophilia A | -| Orphanet:599485 | Acquired hemophilia B | -| Orphanet:576360 | Acquired human prion disease | -| Orphanet:2221 | Acquired hypertrichosis lanuginosa | -| Orphanet:454 | Acquired ichthyosis | -| Orphanet:75564 | Acquired idiopathic sideroblastic anemia | -| Orphanet:310050 | Acquired immunodeficiency | -| Orphanet:37559 | Acquired kinky hair syndrome | -| Orphanet:98307 | Acquired lipodystrophy | -| Orphanet:464453 | Acquired methemoglobinemia | -| Orphanet:91136 | Acquired monoclonal Ig light chain-associated Fanconi syndrome | -| Orphanet:98506 | Acquired motor neuron disease | -| Orphanet:98494 | Acquired neuromuscular junction disease | -| Orphanet:178996 | Acquired neutropenia | -| Orphanet:79087 | Acquired partial lipodystrophy | -| Orphanet:221114 | Acquired peripheral movement disorder | -| Orphanet:182086 | Acquired peripheral neuropathy | -| Orphanet:95502 | Acquired pituitary hormone deficiency | -| Orphanet:314697 | Acquired porencephaly | -| Orphanet:95709 | Acquired premature ovarian failure | -| Orphanet:26348 | Acquired prothrombin deficiency | -| Orphanet:228247 | Acquired pseudoxanthoma elasticum | -| Orphanet:49566 | Acquired purpura fulminans | -| Orphanet:485275 | Acquired schizencephaly | -| Orphanet:238547 | Acquired secondary polycythemia | -| Orphanet:208984 | Acquired sensory ganglionopathy | -| Orphanet:206638 | Acquired skeletal muscle disease | -| Orphanet:99147 | Acquired von Willebrand syndrome | -| Orphanet:263534 | Acral peeling skin syndrome | -| Orphanet:90396 | Acral persistent papular mucinosis | -| Orphanet:281127 | Acral self-healing collodion baby | -| Orphanet:958 | Acro-renal-mandibular syndrome | -| Orphanet:959 | Acro-renal-ocular syndrome | -| Orphanet:36 | Acrocallosal syndrome | -| Orphanet:63446 | Acrocapitofemoral dysplasia | -| Orphanet:2008 | Acrocardiofacial syndrome | -| Orphanet:221054 | Acrocephalopolydactyly | -| Orphanet:949 | Acrocraniofacial dysostosis | -| Orphanet:163931 | Acrodermatitis continua of Hallopeau | -| Orphanet:37 | Acrodermatitis enteropathica | -| Orphanet:950 | Acrodysostosis | -| Orphanet:2956 | Acrodysplasia scoliosis | -| Orphanet:364574 | Acrofacial dysostosis | -| Orphanet:1786 | Acrofacial dysostosis, Catania type | -| Orphanet:64542 | Acrofacial dysostosis, Kennedy-Teebi type | -| Orphanet:1787 | Acrofacial dysostosis, Palagonia type | -| Orphanet:1788 | Acrofacial dysostosis, Rodríguez type | -| Orphanet:952 | Acrofacial dysostosis, Weyers type | -| Orphanet:1784 | Acrofrontofacionasal dysostosis | -| Orphanet:2500 | Acrogeria | -| Orphanet:79356 | Acrokeratoderma | -| Orphanet:38 | Acrokeratoelastoidosis of Costa | -| Orphanet:79151 | Acrokeratosis verruciformis of Hopf | -| Orphanet:963 | Acromegaly | -| Orphanet:39 | Acromelanosis | -| Orphanet:93436 | Acromelic dysplasia | -| Orphanet:1827 | Acromelic frontonasal dysplasia | -| Orphanet:93437 | Acromesomelic dysplasia | -| Orphanet:2098 | Acromesomelic dysplasia, Grebe type | -| Orphanet:968 | Acromesomelic dysplasia, Hunter-Thompson type | -| Orphanet:40 | Acromesomelic dysplasia, Maroteaux type | -| Orphanet:969 | Acromicric dysplasia | -| Orphanet:363665 | Acroosteolysis-keloid-like lesions-premature aging syndrome | -| Orphanet:2980 | Acrootoocular syndrome | -| Orphanet:85203 | Acropectoral syndrome | -| Orphanet:957 | Acropectorovertebral dysplasia | -| Orphanet:971 | Acrorenal syndrome | -| Orphanet:254395 | Actinic lichen planus | -| Orphanet:330061 | Actinic prurigo | -| Orphanet:457095 | Actinomycosis | -| Orphanet:163696 | Action myoclonus-renal failure syndrome | -| Orphanet:397596 | Activated PI3K-delta syndrome | -| Orphanet:73423 | Acute ackee fruit intoxication | -| Orphanet:95409 | Acute adrenal insufficiency | -| Orphanet:207038 | Acute and subacute inflammatory demyelinating polyneuropathy | -| Orphanet:284460 | Acute annular outer retinopathy | -| Orphanet:86849 | Acute basophilic leukemia | -| Orphanet:529799 | Acute bilirubin encephalopathy | -| Orphanet:83597 | Acute disseminated encephalomyelitis | -| Orphanet:592894 | Acute disseminated encephalomyelitis with anti-MOG antibodies | -| Orphanet:592900 | Acute disseminated encephalomyelitis without anti-MOG antibodies | -| Orphanet:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | -| Orphanet:363567 | Acute encephalopathy with inflammation-mediated status epilepticus | -| Orphanet:279888 | Acute endophthalmitis | -| Orphanet:318 | Acute erythroid leukemia | -| Orphanet:243367 | Acute fatty liver of pregnancy | -| Orphanet:623801 | Acute flaccid myelitis | -| Orphanet:293173 | Acute generalized exanthematous pustulosis | -| Orphanet:99920 | Acute graft versus host disease | -| Orphanet:95157 | Acute hepatic porphyria | -| Orphanet:217371 | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | -| Orphanet:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | -| Orphanet:370088 | Acute infantile liver failure-multisystemic involvement syndrome | -| Orphanet:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | -| Orphanet:79276 | Acute intermittent porphyria | -| Orphanet:79126 | Acute interstitial pneumonia | -| Orphanet:90062 | Acute liver failure | -| Orphanet:178320 | Acute lung injury | -| Orphanet:488239 | Acute macular neuroretinopathy | -| Orphanet:566393 | Acute mast cell leukemia | -| Orphanet:518 | Acute megakaryoblastic leukemia | -| Orphanet:99887 | Acute megakaryoblastic leukemia in Down syndrome | -| Orphanet:329469 | Acute megakaryoblastic leukemia without Down syndrome | -| Orphanet:514 | Acute monoblastic/monocytic leukemia | -| Orphanet:98917 | Acute motor and sensory axonal neuropathy | -| Orphanet:98918 | Acute motor axonal neuropathy | -| Orphanet:98834 | Acute myeloblastic leukemia with maturation | -| Orphanet:98833 | Acute myeloblastic leukemia without maturation | -| Orphanet:86845 | Acute myeloid leukaemia with myelodysplasia-related features | -| Orphanet:102379 | Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent | -| Orphanet:164726 | Acute myeloid leukemia and myelodysplastic syndromes related to radiation | -| Orphanet:102381 | Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor | -| Orphanet:98831 | Acute myeloid leukemia with 11q23 abnormalities | -| Orphanet:319480 | Acute myeloid leukemia with CEBPA somatic mutations | -| Orphanet:402026 | Acute myeloid leukemia with NPM1 somatic mutations | -| Orphanet:98829 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) | -| Orphanet:402020 | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) | -| Orphanet:98832 | Acute myeloid leukemia with minimal differentiation | -| Orphanet:402014 | Acute myeloid leukemia with t(6;9)(p23;q34) | -| Orphanet:370026 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation | -| Orphanet:102724 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | -| Orphanet:402017 | Acute myeloid leukemia with t(9;11)(p22;q23) | -| Orphanet:585867 | Acute myeloid leukemia with t(9;22)(q34.1;q11.2) | -| Orphanet:517 | Acute myelomonocytic leukemia | -| Orphanet:263524 | Acute necrotizing encephalopathy of childhood | -| Orphanet:247546 | Acute neonatal citrullinemia type I | -| Orphanet:35889 | Acute opioid intoxication | -| Orphanet:231457 | Acute pandysautonomia | -| Orphanet:86843 | Acute panmyelosis with myelofibrosis | -| Orphanet:43119 | Acute poisoning by drugs with membrane-stabilizing effect | -| Orphanet:520 | Acute promyelocytic leukemia | -| Orphanet:231450 | Acute pure sensory neuropathy | -| Orphanet:454831 | Acute radiation syndrome | -| Orphanet:615964 | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | -| Orphanet:231466 | Acute sensory ataxic neuropathy | -| Orphanet:139417 | Acute transverse myelitis | -| Orphanet:592873 | Acute transverse myelitis with anti-MOG antibodies | -| Orphanet:43117 | Acute tricyclic antidepressant poisoning | -| Orphanet:98835 | Acute undifferentiated leukemia | -| Orphanet:284454 | Acute zonal occult outer retinopathy | -| Orphanet:99901 | Acyl-CoA dehydrogenase 9 deficiency | -| Orphanet:309120 | Acyl-CoA dehydrogenase deficiency | -| Orphanet:55881 | Adamantinoma | -| Orphanet:974 | Adams-Oliver syndrome | -| Orphanet:85138 | Addison disease | -| Orphanet:2952 | Adducted thumbs-arthrogryposis syndrome, Christian type | -| Orphanet:976 | Adenine phosphoribosyltransferase deficiency | -| Orphanet:213504 | Adenocarcinoma of ovary | -| Orphanet:424016 | Adenocarcinoma of the anal canal | -| Orphanet:213772 | Adenocarcinoma of the cervix uteri | -| Orphanet:99976 | Adenocarcinoma of the esophagus | -| Orphanet:424991 | Adenocarcinoma of the gallbladder and extrahepatic biliary tract | -| Orphanet:424943 | Adenocarcinoma of the liver and intrahepatic biliary tract | -| Orphanet:398053 | Adenocarcinoma of the penis | -| Orphanet:104075 | Adenocarcinoma of the small intestine | -| Orphanet:95512 | Adenohypophysitis | -| Orphanet:213828 | Adenoid basal carcinoma of the cervix uteri | -| Orphanet:213823 | Adenoid cystic carcinoma of the cervix uteri | -| Orphanet:93292 | Adenoma of pancreas | -| Orphanet:213792 | Adenosarcoma of the cervix uteri | -| Orphanet:213600 | Adenosarcoma of the corpus uteri | -| Orphanet:45 | Adenosine monophosphate deaminase deficiency | -| Orphanet:46 | Adenylosuccinate lyase deficiency | -| Orphanet:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | -| Orphanet:645626 | Adermatopathic dermatomyositis | -| Orphanet:36397 | Adiposis dolorosa | -| Orphanet:98260 | Adolescent-onset epilepsy syndrome | -| Orphanet:647758 | Adrenal Cushing syndrome | -| Orphanet:595337 | Adrenal hypoplasia congenita | -| Orphanet:100091 | Adrenal/paraganglial tumor | -| Orphanet:1501 | Adrenocortical carcinoma | -| Orphanet:231625 | Adrenocortical carcinoma with pure aldosterone hypersecretion | -| Orphanet:181412 | Adrenogenital syndrome | -| Orphanet:139399 | Adrenomyeloneuropathy | -| Orphanet:977 | Adrenomyodystrophy | -| Orphanet:206448 | Adult Krabbe disease | -| Orphanet:86875 | Adult T-cell leukemia/lymphoma | -| Orphanet:70578 | Adult acute respiratory distress syndrome | -| Orphanet:2666 | Adult familial nephronophthisis-spastic quadriparesia syndrome | -| Orphanet:210159 | Adult hepatocellular carcinoma | -| Orphanet:247676 | Adult hypophosphatasia | -| Orphanet:2688 | Adult idiopathic neutropenia | -| Orphanet:178487 | Adult intestinal botulism | -| Orphanet:79262 | Adult neuronal ceroid lipofuscinosis | -| Orphanet:206583 | Adult polyglucosan body disease | -| Orphanet:589830 | Adult-onset Steinert myotonic dystrophy | -| Orphanet:829 | Adult-onset Still disease | -| Orphanet:99027 | Adult-onset autosomal dominant leukodystrophy | -| Orphanet:284289 | Adult-onset autosomal recessive cerebellar ataxia | -| Orphanet:255132 | Adult-onset autosomal recessive sideroblastic anemia | -| Orphanet:420492 | Adult-onset cervical dystonia, DYT23 type | -| Orphanet:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | -| Orphanet:329478 | Adult-onset distal myopathy due to VCP mutation | -| Orphanet:199351 | Adult-onset dystonia-parkinsonism | -| Orphanet:99000 | Adult-onset foveomacular vitelliform dystrophy | -| Orphanet:306431 | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies | -| Orphanet:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | -| Orphanet:391490 | Adult-onset myasthenia gravis | -| Orphanet:171442 | Adult-onset nemaline myopathy | -| Orphanet:101334 | African tick typhus | -| Orphanet:3385 | African trypanosomiasis | -| Orphanet:183669 | Agammaglobulinemia | -| Orphanet:83617 | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | -| Orphanet:99114 | Agenesis of the superior vena cava | -| Orphanet:364817 | Aggrecan-related bone disorder | -| Orphanet:86873 | Aggressive NK-cell leukemia | -| Orphanet:98850 | Aggressive systemic mastocytosis | -| Orphanet:990 | Agnathia-holoprosencephaly-situs inversus syndrome | -| Orphanet:50 | Aicardi syndrome | -| Orphanet:51 | Aicardi-Goutières syndrome | -| Orphanet:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | -| Orphanet:52 | Alagille syndrome | -| Orphanet:261600 | Alagille syndrome due to 20p12 microdeletion | -| Orphanet:261619 | Alagille syndrome due to a JAG1 point mutation | -| Orphanet:261629 | Alagille syndrome due to a NOTCH2 point mutation | -| Orphanet:2007 | Alar cartilages hypoplasia-coloboma-telecanthus syndrome | -| Orphanet:319671 | Alazami syndrome | -| Orphanet:53 | Albers-Schönberg osteopetrosis | -| Orphanet:998 | Albinism-deafness syndrome | -| Orphanet:58 | Alexander disease | -| Orphanet:363717 | Alexander disease type I | -| Orphanet:363722 | Alexander disease type II | -| Orphanet:502444 | Alkaline ceramidase 3 deficiency | -| Orphanet:56 | Alkaptonuria | -| Orphanet:59 | Allan-Herndon-Dudley syndrome | -| Orphanet:1164 | Allergic bronchopulmonary aspergillosis | -| Orphanet:93925 | Alobar holoprosencephaly | -| Orphanet:79364 | Alopecia | -| Orphanet:1006 | Alopecia antibody deficiency | -| Orphanet:700 | Alopecia totalis | -| Orphanet:701 | Alopecia universalis | -| Orphanet:1005 | Alopecia-contractures-dwarfism-intellectual disability syndrome | -| Orphanet:1008 | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome | -| Orphanet:2850 | Alopecia-intellectual disability syndrome | -| Orphanet:1014 | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | -| Orphanet:726 | Alpers-Huttenlocher syndrome | -| Orphanet:734 | Alpha delta granule deficiency | -| Orphanet:98455 | Alpha granule disease | -| Orphanet:60 | Alpha-1-antitrypsin deficiency | -| Orphanet:399058 | Alpha-B crystallin-related late-onset myopathy | -| Orphanet:3137 | Alpha-N-acetylgalactosaminidase deficiency | -| Orphanet:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | -| Orphanet:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | -| Orphanet:79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 | -| Orphanet:98910 | Alpha-crystallinopathy | -| Orphanet:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | -| Orphanet:100025 | Alpha-heavy chain disease | -| Orphanet:61 | Alpha-mannosidosis | -| Orphanet:309288 | Alpha-mannosidosis, adult form | -| Orphanet:309282 | Alpha-mannosidosis, infantile form | -| Orphanet:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | -| Orphanet:846 | Alpha-thalassemia | -| Orphanet:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | -| Orphanet:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | -| Orphanet:231401 | Alpha-thalassemia-myelodysplastic syndrome | -| Orphanet:63 | Alport syndrome | -| Orphanet:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | -| Orphanet:64 | Alström syndrome | -| Orphanet:209978 | Alternating hemiplegia | -| Orphanet:2131 | Alternating hemiplegia of childhood | -| Orphanet:284 | Alveolar echinococcosis | -| Orphanet:99756 | Alveolar rhabdomyosarcoma | -| Orphanet:163699 | Alveolar soft tissue sarcoma | -| Orphanet:1021 | Amaurosis-hypertrichosis syndrome | -| Orphanet:294925 | Amelia | -| Orphanet:294969 | Amelia of lower limb | -| Orphanet:294967 | Amelia of upper limb | -| Orphanet:1028 | Amelo-onycho-hypohidrotic syndrome | -| Orphanet:314422 | Ameloblastic carcinoma | -| Orphanet:314419 | Ameloblastoma | -| Orphanet:1946 | Amelocerebrohypohidrotic syndrome | -| Orphanet:88661 | Amelogenesis imperfecta | -| Orphanet:3386 | American trypanosomiasis | -| Orphanet:225689 | Amino acid or protein metabolism disease with epilepsy | -| Orphanet:308448 | Aminoacylase deficiency | -| Orphanet:1908 | Aminopterin/methotrexate embryofetopathy | -| Orphanet:99742 | Amish lethal microcephaly | -| Orphanet:98902 | Amish nemaline myopathy | -| Orphanet:617304 | Amniotic fluid embolism | -| Orphanet:67 | Amoebiasis due to Entamoeba histolytica | -| Orphanet:68 | Amoebiasis due to free-living amoebae | -| Orphanet:67043 | Amoebic keratitis | -| Orphanet:319635 | Amyloidosis cutis dyschromia | -| Orphanet:645617 | Amyopathic dermatomyositis | -| Orphanet:803 | Amyotrophic lateral sclerosis | -| Orphanet:357043 | Amyotrophic lateral sclerosis type 4 | -| Orphanet:228113 | Anal fistula | -| Orphanet:251589 | Anaplastic astrocytoma | -| Orphanet:251646 | Anaplastic ependymoma | -| Orphanet:251957 | Anaplastic ganglioglioma | -| Orphanet:98841 | Anaplastic large cell lymphoma | -| Orphanet:251663 | Anaplastic oligoastrocytoma | -| Orphanet:251630 | Anaplastic oligodendroglioma | -| Orphanet:142 | Anaplastic thyroid carcinoma | -| Orphanet:251855 | Anaplastic/large cell medulloblastoma | -| Orphanet:93347 | Anauxetic dysplasia | -| Orphanet:37553 | Andersen-Tawil syndrome | -| Orphanet:754 | Androgen insensitivity syndrome | -| Orphanet:1054 | Aneurysm of sinus of Valsalva | -| Orphanet:284984 | Aneurysm-osteoarthritis syndrome | -| Orphanet:480553 | Aneurysmal bone cyst | -| Orphanet:63442 | Angel-shaped phalango-epiphyseal dysplasia | -| Orphanet:72 | Angelman syndrome | -| Orphanet:411511 | Angelman syndrome due to a point mutation | -| Orphanet:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | -| Orphanet:98794 | Angelman syndrome due to maternal 15q11q13 deletion | -| Orphanet:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | -| Orphanet:251671 | Angiocentric glioma | -| Orphanet:86886 | Angioimmunoblastic T-cell lymphoma | -| Orphanet:95429 | Angioma serpiginosum | -| Orphanet:569164 | Angiomatoid fibrous histiocytoma | -| Orphanet:2346 | Angioosteohypertrophic syndrome | -| Orphanet:75508 | Angioosteohypotrophic syndrome | -| Orphanet:263413 | Angiosarcoma | -| Orphanet:74 | Angiostrongyliasis | -| Orphanet:370039 | Angora hair nevus | -| Orphanet:69088 | Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | -| Orphanet:1069 | Aniridia-absent patella syndrome | -| Orphanet:1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome | -| Orphanet:1068 | Aniridia-intellectual disability syndrome | -| Orphanet:1067 | Aniridia-ptosis-intellectual disability-familial obesity syndrome | -| Orphanet:1064 | Aniridia-renal agenesis-psychomotor retardation syndrome | -| Orphanet:1070 | Anisakiasis | -| Orphanet:1072 | Ankyloblepharon filiforme adnatum-cleft palate syndrome | -| Orphanet:1074 | Ankyloblepharon filiforme adnatum-imperforate anus syndrome | -| Orphanet:1071 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | -| Orphanet:2206 | Ankylosing vertebral hyperostosis with tylosis | -| Orphanet:78 | Ankylostomiasis | -| Orphanet:254411 | Annular atrophic lichen planus | -| Orphanet:281139 | Annular epidermolytic ichthyosis | -| Orphanet:254424 | Annular lichen planus | -| Orphanet:675 | Annular pancreas | -| Orphanet:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | -| Orphanet:99797 | Anodontia | -| Orphanet:541478 | Anomalous aortic origin of coronary artery | -| Orphanet:541443 | Anomalous aortic origin of the left coronary artery | -| Orphanet:541454 | Anomalous aortic origin of the right coronary artery | -| Orphanet:541507 | Anomalous origin of coronary artery from the pulmonary artery | -| Orphanet:180208 | Anomaly of puberty or/and menstrual cycle | -| Orphanet:202940 | Anomaly of puberty or/and menstrual cycle of genetic origin | -| Orphanet:542822 | Anomaly of the coronary ostia | -| Orphanet:645282 | Anomaly of the filum | -| Orphanet:101932 | Anomaly of the mitral subvalvular apparatus | -| Orphanet:95463 | Anomaly of the tricuspid subvalvular apparatus | -| Orphanet:94150 | Anonychia congenita totalis | -| Orphanet:69125 | Anonychia with flexural pigmentation | -| Orphanet:1094 | Anonychia-microcephaly syndrome | -| Orphanet:90390 | Anonychia-onychodystrophy syndrome | -| Orphanet:1104 | Anophthalmia plus syndrome | -| Orphanet:1101 | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | -| Orphanet:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | -| Orphanet:93976 | Anotia | -| Orphanet:2987 | Antecubital pterygium syndrome | -| Orphanet:178148 | Antenatal multiminicore disease with arthrogryposis multiplex congenita | -| Orphanet:51890 | Anterior cutaneous nerve entrapment syndrome | -| Orphanet:562559 | Anterior maxillary protrusion-strabismus-intellectual disability syndrome | -| Orphanet:519276 | Anterior segment developmental abnormality with extraocular manifestations | -| Orphanet:88632 | Anterior segment developmental anomaly | -| Orphanet:98634 | Anterior segment developmental anomaly without extraocular manifestations | -| Orphanet:435372 | Anterior urethral valve | -| Orphanet:280886 | Anterior uveitis | -| Orphanet:2194 | Anti-HLA hyperimmunization | -| Orphanet:375 | Anti-glomerular basement membrane disease | -| Orphanet:454710 | Anti-p200 pemphigoid | -| Orphanet:80 | Antiphospholipid syndrome | -| Orphanet:81 | Antisynthetase syndrome | -| Orphanet:83 | Antley-Bixler syndrome | -| Orphanet:63269 | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis | -| Orphanet:596008 | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis | -| Orphanet:1457 | Aorta coarctation | -| Orphanet:1110 | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | -| Orphanet:1132 | Aortic arch defects | -| Orphanet:2299 | Aortic arch interruption | -| Orphanet:98718 | Aortic malformation | -| Orphanet:99071 | Aorto-left ventricular tunnel | -| Orphanet:99070 | Aorto-right ventricular tunnel | -| Orphanet:3400 | Aorto-ventricular tunnel | -| Orphanet:87 | Apert syndrome | -| Orphanet:1112 | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | -| Orphanet:1113 | Aphalangy-syndactyly-microcephaly syndrome | -| Orphanet:324540 | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome | -| Orphanet:1114 | Aplasia cutis congenita | -| Orphanet:1116 | Aplasia cutis congenita-intestinal lymphangiectasia syndrome | -| Orphanet:1117 | Aplasia cutis-myopia syndrome | -| Orphanet:86815 | Aplasia of lacrimal and salivary glands | -| Orphanet:611216 | Aplastic anemia-intellectual disability-dwarfism syndrome | -| Orphanet:99981 | Apnea of prematurity | -| Orphanet:294986 | Apodia | -| Orphanet:425 | Apolipoprotein A-I deficiency | -| Orphanet:320 | Apparent mineralocorticoid excess | -| Orphanet:566857 | Aprosencephaly | -| Orphanet:1126 | Aprosencephaly cerebellar dysgenesis | -| Orphanet:566847 | Aprosencephaly/atelencephaly spectrum | -| Orphanet:498359 | Aquagenic palmoplantar keratoderma | -| Orphanet:1129 | Arachnodactyly-abnormal ossification-intellectual disability syndrome | -| Orphanet:1130 | Arachnodactyly-intellectual disability-dysmorphism syndrome | -| Orphanet:2356 | Arachnoid cyst | -| Orphanet:137817 | Arachnoiditis | -| Orphanet:344 | Arbovirus fever | -| Orphanet:101096 | Aregenerative anemia | -| Orphanet:319223 | Argentine hemorrhagic fever | -| Orphanet:90 | Argininemia | -| Orphanet:23 | Argininosuccinic aciduria | -| Orphanet:60014 | Argyria | -| Orphanet:268882 | Arnold-Chiari malformation type I | -| Orphanet:91 | Aromatase deficiency | -| Orphanet:178345 | Aromatase excess syndrome | -| Orphanet:35708 | Aromatic L-amino acid decarboxylase deficiency | -| Orphanet:1135 | Arrhinia-choanal atresia-microphthalmia syndrome | -| Orphanet:1682 | Arterial dissection-lentiginosis syndrome | -| Orphanet:95485 | Arterial duct anomaly | -| Orphanet:357107 | Arterial thoracic outlet syndrome | -| Orphanet:3342 | Arterial tortuosity syndrome | -| Orphanet:1899 | Arthrochalasia Ehlers-Danlos syndrome | -| Orphanet:1037 | Arthrogryposis multiplex congenita | -| Orphanet:1150 | Arthrogryposis multiplex congenita-whistling face syndrome | -| Orphanet:109007 | Arthrogryposis syndrome | -| Orphanet:53696 | Arthrogryposis-anterior horn cell disease syndrome | -| Orphanet:3200 | Arthrogryposis-ectodermal dysplasia syndrome | -| Orphanet:1485 | Arthrogryposis-hyperkeratosis syndrome, lethal form | -| Orphanet:1144 | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome | -| Orphanet:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | -| Orphanet:2697 | Arthrogryposis-renal dysfunction-cholestasis syndrome | -| Orphanet:65720 | Arthrogryposis-severe scoliosis syndrome | -| Orphanet:2302 | Asbestos intoxication | -| Orphanet:98725 | Ascending aorta anomaly | -| Orphanet:1253 | Ascher syndrome | -| Orphanet:137686 | Asherman syndrome | -| Orphanet:93 | Aspartylglucosaminuria | -| Orphanet:1163 | Aspergillosis | -| Orphanet:85175 | Astley-Kendall dysplasia | -| Orphanet:251679 | Astroblastoma | -| Orphanet:94 | Astrocytoma | -| Orphanet:254818 | Ataxia neuropathy spectrum | -| Orphanet:98538 | Ataxia with dementia | -| Orphanet:96 | Ataxia with vitamin E deficiency | -| Orphanet:1188 | Ataxia-deafness-intellectual disability syndrome | -| Orphanet:1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome | -| Orphanet:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | -| Orphanet:1168 | Ataxia-oculomotor apraxia type 1 | -| Orphanet:459033 | Ataxia-oculomotor apraxia type 4 | -| Orphanet:2585 | Ataxia-pancytopenia syndrome | -| Orphanet:1184 | Ataxia-photosensitivity-short stature syndrome | -| Orphanet:1178 | Ataxia-tapetoretinal degeneration syndrome | -| Orphanet:100 | Ataxia-telangiectasia | -| Orphanet:370109 | Ataxia-telangiectasia variant | -| Orphanet:251347 | Ataxia-telangiectasia-like disorder | -| Orphanet:566852 | Atelencephaly | -| Orphanet:1190 | Atelosteogenesis type I | -| Orphanet:56304 | Atelosteogenesis type II | -| Orphanet:56305 | Atelosteogenesis type III | -| Orphanet:69739 | Athabaskan brainstem dysgenesis syndrome | -| Orphanet:1192 | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | -| Orphanet:95713 | Athyreosis | -| Orphanet:1193 | Atkin-Flaitz syndrome | -| Orphanet:163934 | Atopic keratoconjunctivitis | -| Orphanet:105 | Atresia of urethra | -| Orphanet:95510 | Atrial appendage anomaly | -| Orphanet:99107 | Atrial septal aneurysm | -| Orphanet:99104 | Atrial septal defect, coronary sinus type | -| Orphanet:99106 | Atrial septal defect, ostium primum type | -| Orphanet:99103 | Atrial septal defect, ostium secundum type | -| Orphanet:99105 | Atrial septal defect, sinus venosus type | -| Orphanet:1479 | Atrial septal defect-atrioventricular conduction defects syndrome | -| Orphanet:1344 | Atrial standstill | -| Orphanet:86819 | Atrichia with papular lesions | -| Orphanet:1352 | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome | -| Orphanet:98722 | Atrioventricular septal defect | -| Orphanet:98720 | Atrioventricular valve anomaly | -| Orphanet:254449 | Atrophic lichen planus | -| Orphanet:79100 | Atrophoderma vermiculata | -| Orphanet:352723 | Attenuated Chédiak-Higashi syndrome | -| Orphanet:220460 | Attenuated familial adenomatous polyposis | -| Orphanet:544628 | Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome | -| Orphanet:309252 | Atypical Gaucher disease due to saposin C deficiency | -| Orphanet:314466 | Atypical Meigs syndrome | -| Orphanet:261501 | Atypical Norrie disease due to Xp11.3 microdeletion | -| Orphanet:3095 | Atypical Rett syndrome | -| Orphanet:595109 | Atypical Timothy syndrome | -| Orphanet:79474 | Atypical Werner syndrome | -| Orphanet:199627 | Atypical autism | -| Orphanet:98824 | Atypical chronic myeloid leukemia | -| Orphanet:1456 | Atypical coarctation of aorta | -| Orphanet:314721 | Atypical dentin dysplasia due to SMOC2 deficiency | -| Orphanet:289863 | Atypical glycine encephalopathy | -| Orphanet:2134 | Atypical hemolytic uremic syndrome | -| Orphanet:93581 | Atypical hemolytic uremic syndrome with anti-factor H antibodies | -| Orphanet:544472 | Atypical hemolytic uremic syndrome with complement gene abnormality | -| Orphanet:238523 | Atypical hypotonia-cystinuria syndrome | -| Orphanet:391411 | Atypical juvenile parkinsonism | -| Orphanet:86797 | Atypical lichen myxedematosus | -| Orphanet:216873 | Atypical pantothenate kinase-associated neurodegeneration | -| Orphanet:251902 | Atypical papilloma of choroid plexus | -| Orphanet:99750 | Atypical progressive supranuclear palsy syndrome | -| Orphanet:99966 | Atypical teratoid rhabdoid tumor | -| Orphanet:166415 | Audiogenic seizures | -| Orphanet:542585 | Auditory neuropathy-optic atrophy syndrome | -| Orphanet:77300 | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | -| Orphanet:137888 | Auriculocondylar syndrome | -| Orphanet:114 | Auriculoosteodysplasia | -| Orphanet:352490 | Autism spectrum disorder due to AUTS2 deficiency | -| Orphanet:370943 | Autism spectrum disorder-epilepsy-arthrogryposis syndrome | -| Orphanet:308410 | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | -| Orphanet:324636 | Autoerythrocyte sensitization syndrome | -| Orphanet:79669 | Autoimmune bullous skin disease | -| Orphanet:315350 | Autoimmune disease with skin involvement | -| Orphanet:622014 | Autoimmune encephalitis | -| Orphanet:420789 | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea | -| Orphanet:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | -| Orphanet:98375 | Autoimmune hemolytic anemia | -| Orphanet:228312 | Autoimmune hemolytic anemia, cold type | -| Orphanet:90033 | Autoimmune hemolytic anemia, warm type | -| Orphanet:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | -| Orphanet:2137 | Autoimmune hepatitis | -| Orphanet:563576 | Autoimmune hepatitis type 1 | -| Orphanet:563581 | Autoimmune hepatitis type 2 | -| Orphanet:36913 | Autoimmune hypoparathyroidism | -| Orphanet:444092 | Autoimmune interstitial lung disease-arthritis syndrome | -| Orphanet:623615 | Autoimmune limbic encephalitis | -| Orphanet:3261 | Autoimmune lymphoproliferative syndrome | -| Orphanet:436159 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | -| Orphanet:275517 | Autoimmune lymphoproliferative syndrome with recurrent viral infections | -| Orphanet:98750 | Autoimmune neurological channelopathy | -| Orphanet:103919 | Autoimmune pancreatitis | -| Orphanet:280302 | Autoimmune pancreatitis type 1 | -| Orphanet:280315 | Autoimmune pancreatitis type 2 | -| Orphanet:282196 | Autoimmune polyendocrinopathy | -| Orphanet:3453 | Autoimmune polyendocrinopathy type 1 | -| Orphanet:3143 | Autoimmune polyendocrinopathy type 2 | -| Orphanet:227982 | Autoimmune polyendocrinopathy type 3 | -| Orphanet:227990 | Autoimmune polyendocrinopathy type 4 | -| Orphanet:747 | Autoimmune pulmonary alveolar proteinosis | -| Orphanet:71203 | Autoimmune thrombocytopenia | -| Orphanet:499047 | Autoimmune/inflammatory optic neuropathy | -| Orphanet:324530 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | -| Orphanet:93665 | Autoinflammatory syndrome | -| Orphanet:319719 | Autoinflammatory syndrome of childhood | -| Orphanet:290839 | Autoinflammatory syndrome with immune deficiency | -| Orphanet:329173 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | -| Orphanet:290842 | Autoinflammatory syndrome with skin involvement | -| Orphanet:33110 | Autosomal agammaglobulinemia | -| Orphanet:98127 | Autosomal anomaly | -| Orphanet:88918 | Autosomal dominant Alport syndrome | -| Orphanet:64746 | Autosomal dominant Charcot-Marie-Tooth disease type 2 | -| Orphanet:487814 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | -| Orphanet:324611 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | -| Orphanet:435819 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | -| Orphanet:401964 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | -| Orphanet:99946 | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | -| Orphanet:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | -| Orphanet:99936 | Autosomal dominant Charcot-Marie-Tooth disease type 2B | -| Orphanet:99937 | Autosomal dominant Charcot-Marie-Tooth disease type 2C | -| Orphanet:99938 | Autosomal dominant Charcot-Marie-Tooth disease type 2D | -| Orphanet:521414 | Autosomal dominant Charcot-Marie-Tooth disease type 2DD | -| Orphanet:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | -| Orphanet:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | -| Orphanet:99941 | Autosomal dominant Charcot-Marie-Tooth disease type 2G | -| Orphanet:99942 | Autosomal dominant Charcot-Marie-Tooth disease type 2I | -| Orphanet:99943 | Autosomal dominant Charcot-Marie-Tooth disease type 2J | -| Orphanet:99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K | -| Orphanet:99945 | Autosomal dominant Charcot-Marie-Tooth disease type 2L | -| Orphanet:228179 | Autosomal dominant Charcot-Marie-Tooth disease type 2M | -| Orphanet:228174 | Autosomal dominant Charcot-Marie-Tooth disease type 2N | -| Orphanet:284232 | Autosomal dominant Charcot-Marie-Tooth disease type 2O | -| Orphanet:329258 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q | -| Orphanet:397735 | Autosomal dominant Charcot-Marie-Tooth disease type 2U | -| Orphanet:447964 | Autosomal dominant Charcot-Marie-Tooth disease type 2V | -| Orphanet:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | -| Orphanet:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | -| Orphanet:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | -| Orphanet:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | -| Orphanet:93325 | Autosomal dominant Kenny-Caffey syndrome | -| Orphanet:3107 | Autosomal dominant Robinow syndrome | -| Orphanet:209335 | Autosomal dominant adult-onset proximal spinal muscular atrophy | -| Orphanet:314399 | Autosomal dominant aplasia and myelodysplasia | -| Orphanet:93304 | Autosomal dominant brachyolmia | -| Orphanet:169189 | Autosomal dominant centronuclear myopathy | -| Orphanet:99 | Autosomal dominant cerebellar ataxia | -| Orphanet:94145 | Autosomal dominant cerebellar ataxia type I | -| Orphanet:208508 | Autosomal dominant cerebellar ataxia type II | -| Orphanet:94148 | Autosomal dominant cerebellar ataxia type III | -| Orphanet:94149 | Autosomal dominant cerebellar ataxia type IV | -| Orphanet:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | -| Orphanet:363447 | Autosomal dominant childhood-onset proximal spinal muscular atrophy | -| Orphanet:1455 | Autosomal dominant coarctation of aorta | -| Orphanet:100979 | Autosomal dominant complex spastic paraplegia | -| Orphanet:1216 | Autosomal dominant congenital benign spinal muscular atrophy | -| Orphanet:90348 | Autosomal dominant cutis laxa | -| Orphanet:79499 | Autosomal dominant deafness-onychodystrophy syndrome | -| Orphanet:307773 | Autosomal dominant diffuse mutilating palmoplantar keratoderma | -| Orphanet:98353 | Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature | -| Orphanet:308031 | Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature | -| Orphanet:98352 | Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature | -| Orphanet:476093 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome | -| Orphanet:140465 | Autosomal dominant distal hereditary motor neuropathy | -| Orphanet:206650 | Autosomal dominant distal myopathy | -| Orphanet:93608 | Autosomal dominant distal renal tubular acidosis | -| Orphanet:98808 | Autosomal dominant dopa-responsive dystonia | -| Orphanet:312 | Autosomal dominant epidermolytic ichthyosis | -| Orphanet:101046 | Autosomal dominant epilepsy with auditory features | -| Orphanet:329466 | Autosomal dominant focal dystonia, DYT25 type | -| Orphanet:402003 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | -| Orphanet:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | -| Orphanet:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | -| Orphanet:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | -| Orphanet:140456 | Autosomal dominant hereditary axonal motor and sensory neuropathy | -| Orphanet:140453 | Autosomal dominant hereditary demyelinating motor and sensory neuropathy | -| Orphanet:140474 | Autosomal dominant hereditary sensory and autonomic neuropathy | -| Orphanet:2314 | Autosomal dominant hyper-IgE syndrome | -| Orphanet:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | -| Orphanet:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | -| Orphanet:428 | Autosomal dominant hypocalcemia | -| Orphanet:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | -| Orphanet:89937 | Autosomal dominant hypophosphatemic rickets | -| Orphanet:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | -| Orphanet:642763 | Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation | -| Orphanet:90114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease | -| Orphanet:100043 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type A | -| Orphanet:100044 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type B | -| Orphanet:100045 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | -| Orphanet:100046 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | -| Orphanet:93114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | -| Orphanet:352670 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | -| Orphanet:324585 | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | -| Orphanet:98349 | Autosomal dominant isolated diffuse palmoplantar keratoderma | -| Orphanet:2334 | Autosomal dominant keratitis | -| Orphanet:102014 | Autosomal dominant limb-girdle muscular dystrophy | -| Orphanet:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | -| Orphanet:140957 | Autosomal dominant macrothrombocytopenia | -| Orphanet:319543 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | -| Orphanet:319581 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | -| Orphanet:319589 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | -| Orphanet:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | -| Orphanet:65743 | Autosomal dominant multiple pterygium syndrome | -| Orphanet:99846 | Autosomal dominant myoglobinuria | -| Orphanet:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | -| Orphanet:636965 | Autosomal dominant myosin storage myopathy | -| Orphanet:329211 | Autosomal dominant neovascular inflammatory vitreoretinopathy | -| Orphanet:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | -| Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability | -| Orphanet:93328 | Autosomal dominant omodysplasia | -| Orphanet:98672 | Autosomal dominant optic atrophy | -| Orphanet:67036 | Autosomal dominant optic atrophy and cataract | -| Orphanet:250932 | Autosomal dominant optic atrophy and peripheral neuropathy | -| Orphanet:1215 | Autosomal dominant optic atrophy plus syndrome | -| Orphanet:98673 | Autosomal dominant optic atrophy, classic form | -| Orphanet:2783 | Autosomal dominant osteopetrosis type 1 | -| Orphanet:166100 | Autosomal dominant otospondylomegaepiphyseal dysplasia | -| Orphanet:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | -| Orphanet:730 | Autosomal dominant polycystic kidney disease | -| Orphanet:88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | -| Orphanet:1300 | Autosomal dominant popliteal pterygium syndrome | -| Orphanet:476119 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | -| Orphanet:34528 | Autosomal dominant primary hypomagnesemia with hypocalciuria | -| Orphanet:2514 | Autosomal dominant primary microcephaly | -| Orphanet:2964 | Autosomal dominant prognathism | -| Orphanet:254892 | Autosomal dominant progressive external ophthalmoplegia | -| Orphanet:88659 | Autosomal dominant progressive nephropathy with hypertension | -| Orphanet:314889 | Autosomal dominant proximal renal tubular acidosis | -| Orphanet:211037 | Autosomal dominant proximal spinal muscular atrophy | -| Orphanet:100980 | Autosomal dominant pure spastic paraplegia | -| Orphanet:209867 | Autosomal dominant rhegmatogenous retinal detachment | -| Orphanet:247511 | Autosomal dominant secondary polycythemia | -| Orphanet:486 | Autosomal dominant severe congenital neutropenia | -| Orphanet:140481 | Autosomal dominant slowed nerve conduction velocity | -| Orphanet:316235 | Autosomal dominant spastic ataxia | -| Orphanet:251282 | Autosomal dominant spastic ataxia type 1 | -| Orphanet:100991 | Autosomal dominant spastic paraplegia type 10 | -| Orphanet:100993 | Autosomal dominant spastic paraplegia type 12 | -| Orphanet:100994 | Autosomal dominant spastic paraplegia type 13 | -| Orphanet:100998 | Autosomal dominant spastic paraplegia type 17 | -| Orphanet:100999 | Autosomal dominant spastic paraplegia type 19 | -| Orphanet:101009 | Autosomal dominant spastic paraplegia type 29 | -| Orphanet:100984 | Autosomal dominant spastic paraplegia type 3 | -| Orphanet:101011 | Autosomal dominant spastic paraplegia type 31 | -| Orphanet:320365 | Autosomal dominant spastic paraplegia type 36 | -| Orphanet:171612 | Autosomal dominant spastic paraplegia type 37 | -| Orphanet:171617 | Autosomal dominant spastic paraplegia type 38 | -| Orphanet:100985 | Autosomal dominant spastic paraplegia type 4 | -| Orphanet:320355 | Autosomal dominant spastic paraplegia type 41 | -| Orphanet:171863 | Autosomal dominant spastic paraplegia type 42 | -| Orphanet:100988 | Autosomal dominant spastic paraplegia type 6 | -| Orphanet:444099 | Autosomal dominant spastic paraplegia type 73 | -| Orphanet:100989 | Autosomal dominant spastic paraplegia type 8 | -| Orphanet:631068 | Autosomal dominant spastic paraplegia type 80 | -| Orphanet:447753 | Autosomal dominant spastic paraplegia type 9A | -| Orphanet:447757 | Autosomal dominant spastic paraplegia type 9B | -| Orphanet:1797 | Autosomal dominant spondylocostal dysostosis | -| Orphanet:228169 | Autosomal dominant striatal neurodegeneration | -| Orphanet:466806 | Autosomal dominant thrombocytopenia with platelet secretion defect | -| Orphanet:34149 | Autosomal dominant tubulointerstitial kidney disease | -| Orphanet:3086 | Autosomal dominant vitreoretinochoroidopathy | -| Orphanet:79278 | Autosomal erythropoietic protoporphyria | -| Orphanet:281217 | Autosomal ichthyosis syndrome | -| Orphanet:281241 | Autosomal ichthyosis syndrome with fatal disease course | -| Orphanet:281244 | Autosomal ichthyosis syndrome with other associated signs | -| Orphanet:281222 | Autosomal ichthyosis syndrome with prominent hair abnormalities | -| Orphanet:281238 | Autosomal ichthyosis syndrome with prominent neurologic signs | -| Orphanet:102020 | Autosomal monosomy | -| Orphanet:88919 | Autosomal recessive Alport syndrome | -| Orphanet:466775 | Autosomal recessive Charcot-Marie-Tooth disease type 2X | -| Orphanet:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | -| Orphanet:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | -| Orphanet:93324 | Autosomal recessive Kenny-Caffey syndrome | -| Orphanet:1507 | Autosomal recessive Robinow syndrome | -| Orphanet:250984 | Autosomal recessive Stickler syndrome | -| Orphanet:1027 | Autosomal recessive amelia | -| Orphanet:519388 | Autosomal recessive anterior segment dysgenesis | -| Orphanet:247815 | Autosomal recessive ataxia due to PEX10 deficiency | -| Orphanet:642954 | Autosomal recessive ataxia due to PEX16 deficiency | -| Orphanet:642965 | Autosomal recessive ataxia due to PEX2 deficiency | -| Orphanet:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | -| Orphanet:88644 | Autosomal recessive ataxia, Beauce type | -| Orphanet:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | -| Orphanet:91024 | Autosomal recessive axonal hereditary motor and sensory neuropathy | -| Orphanet:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | -| Orphanet:139455 | Autosomal recessive bestrophinopathy | -| Orphanet:448242 | Autosomal recessive brachyolmia | -| Orphanet:169186 | Autosomal recessive centronuclear myopathy | -| Orphanet:1172 | Autosomal recessive cerebellar ataxia | -| Orphanet:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | -| Orphanet:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | -| Orphanet:98097 | Autosomal recessive cerebellar ataxia due to a DNA repair defect | -| Orphanet:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | -| Orphanet:404481 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome | -| Orphanet:404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | -| Orphanet:404493 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | -| Orphanet:284282 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | -| Orphanet:95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome | -| Orphanet:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | -| Orphanet:363429 | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | -| Orphanet:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | -| Orphanet:363969 | Autosomal recessive cerebral atrophy | -| Orphanet:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | -| Orphanet:100981 | Autosomal recessive complex spastic paraplegia | -| Orphanet:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | -| Orphanet:98095 | Autosomal recessive congenital cerebellar ataxia | -| Orphanet:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | -| Orphanet:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | -| Orphanet:281097 | Autosomal recessive congenital ichthyosis | -| Orphanet:90349 | Autosomal recessive cutis laxa type 1 | -| Orphanet:90350 | Autosomal recessive cutis laxa type 2 | -| Orphanet:357074 | Autosomal recessive cutis laxa type 2, classic type | -| Orphanet:357058 | Autosomal recessive cutis laxa type 2A | -| Orphanet:357064 | Autosomal recessive cutis laxa type 2B | -| Orphanet:98098 | Autosomal recessive degenerative and progressive cerebellar ataxia | -| Orphanet:308041 | Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature | -| Orphanet:307804 | Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | -| Orphanet:98357 | Autosomal recessive disease with focal palmoplantar keratoderma as a major feature | -| Orphanet:140468 | Autosomal recessive distal hereditary motor neuropathy | -| Orphanet:206653 | Autosomal recessive distal myopathy | -| Orphanet:2776 | Autosomal recessive distal osteolysis syndrome | -| Orphanet:402041 | Autosomal recessive distal renal tubular acidosis | -| Orphanet:101150 | Autosomal recessive dopa-responsive dystonia | -| Orphanet:512103 | Autosomal recessive epidermolytic ichthyosis | -| Orphanet:562538 | Autosomal recessive extra-oral halitosis | -| Orphanet:1974 | Autosomal recessive faciodigitogenital syndrome | -| Orphanet:329329 | Autosomal recessive frontotemporal pachygyria | -| Orphanet:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | -| Orphanet:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | -| Orphanet:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | -| Orphanet:140459 | Autosomal recessive hereditary demyelinating motor and sensory neuropathy | -| Orphanet:140477 | Autosomal recessive hereditary sensory and autonomic neuropathy | -| Orphanet:641368 | Autosomal recessive hyper-IgE syndrome | -| Orphanet:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | -| Orphanet:79643 | Autosomal recessive hyperinsulinism due to SUR1 deficiency | -| Orphanet:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | -| Orphanet:289176 | Autosomal recessive hypophosphatemic rickets | -| Orphanet:300547 | Autosomal recessive infantile hypercalcemia | -| Orphanet:268337 | Autosomal recessive intermediate Charcot-Marie-Tooth disease | -| Orphanet:217055 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | -| Orphanet:254334 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | -| Orphanet:369867 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | -| Orphanet:435998 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | -| Orphanet:98356 | Autosomal recessive isolated diffuse palmoplantar keratoderma | -| Orphanet:98676 | Autosomal recessive isolated optic atrophy | -| Orphanet:538096 | Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy | -| Orphanet:314572 | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome | -| Orphanet:102015 | Autosomal recessive limb-girdle muscular dystrophy | -| Orphanet:206580 | Autosomal recessive lower motor neuron disease with childhood onset | -| Orphanet:667 | Autosomal recessive malignant osteopetrosis | -| Orphanet:319535 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency | -| Orphanet:319539 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency | -| Orphanet:477857 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | -| Orphanet:319569 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | -| Orphanet:319574 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | -| Orphanet:574957 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency | -| Orphanet:98096 | Autosomal recessive metabolic cerebellar ataxia | -| Orphanet:2990 | Autosomal recessive multiple pterygium syndrome | -| Orphanet:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | -| Orphanet:636970 | Autosomal recessive myosin storage myopathy | -| Orphanet:280654 | Autosomal recessive nail dysplasia | -| Orphanet:88616 | Autosomal recessive non-syndromic intellectual disability | -| Orphanet:93329 | Autosomal recessive omodysplasia | -| Orphanet:227976 | Autosomal recessive optic atrophy, OPA7 type | -| Orphanet:1366 | Autosomal recessive palmoplantar keratoderma and congenital alopecia | -| Orphanet:731 | Autosomal recessive polycystic kidney disease | -| Orphanet:437552 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | -| Orphanet:2512 | Autosomal recessive primary microcephaly | -| Orphanet:254886 | Autosomal recessive progressive external ophthalmoplegia | -| Orphanet:93607 | Autosomal recessive proximal renal tubular acidosis | -| Orphanet:100982 | Autosomal recessive pure spastic paraplegia | -| Orphanet:247378 | Autosomal recessive secondary polycythemia not associated with VHL gene | -| Orphanet:420702 | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | -| Orphanet:420699 | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | -| Orphanet:331176 | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | -| Orphanet:423384 | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | -| Orphanet:260305 | Autosomal recessive sideroblastic anemia | -| Orphanet:316240 | Autosomal recessive spastic ataxia | -| Orphanet:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | -| Orphanet:314603 | Autosomal recessive spastic ataxia with leukoencephalopathy | -| Orphanet:254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | -| Orphanet:2822 | Autosomal recessive spastic paraplegia type 11 | -| Orphanet:100995 | Autosomal recessive spastic paraplegia type 14 | -| Orphanet:100996 | Autosomal recessive spastic paraplegia type 15 | -| Orphanet:101000 | Autosomal recessive spastic paraplegia type 20 | -| Orphanet:101001 | Autosomal recessive spastic paraplegia type 21 | -| Orphanet:101003 | Autosomal recessive spastic paraplegia type 23 | -| Orphanet:101004 | Autosomal recessive spastic paraplegia type 24 | -| Orphanet:101005 | Autosomal recessive spastic paraplegia type 25 | -| Orphanet:101006 | Autosomal recessive spastic paraplegia type 26 | -| Orphanet:101007 | Autosomal recessive spastic paraplegia type 27 | -| Orphanet:101008 | Autosomal recessive spastic paraplegia type 28 | -| Orphanet:171622 | Autosomal recessive spastic paraplegia type 32 | -| Orphanet:171629 | Autosomal recessive spastic paraplegia type 35 | -| Orphanet:139480 | Autosomal recessive spastic paraplegia type 39 | -| Orphanet:320370 | Autosomal recessive spastic paraplegia type 43 | -| Orphanet:320401 | Autosomal recessive spastic paraplegia type 44 | -| Orphanet:320396 | Autosomal recessive spastic paraplegia type 45 | -| Orphanet:320391 | Autosomal recessive spastic paraplegia type 46 | -| Orphanet:306511 | Autosomal recessive spastic paraplegia type 48 | -| Orphanet:319199 | Autosomal recessive spastic paraplegia type 53 | -| Orphanet:320380 | Autosomal recessive spastic paraplegia type 54 | -| Orphanet:320375 | Autosomal recessive spastic paraplegia type 55 | -| Orphanet:320411 | Autosomal recessive spastic paraplegia type 56 | -| Orphanet:431329 | Autosomal recessive spastic paraplegia type 57 | -| Orphanet:401795 | Autosomal recessive spastic paraplegia type 59 | -| Orphanet:100986 | Autosomal recessive spastic paraplegia type 5A | -| Orphanet:401800 | Autosomal recessive spastic paraplegia type 60 | -| Orphanet:401780 | Autosomal recessive spastic paraplegia type 61 | -| Orphanet:401785 | Autosomal recessive spastic paraplegia type 62 | -| Orphanet:401805 | Autosomal recessive spastic paraplegia type 63 | -| Orphanet:401810 | Autosomal recessive spastic paraplegia type 64 | -| Orphanet:401815 | Autosomal recessive spastic paraplegia type 66 | -| Orphanet:401820 | Autosomal recessive spastic paraplegia type 67 | -| Orphanet:401830 | Autosomal recessive spastic paraplegia type 69 | -| Orphanet:401835 | Autosomal recessive spastic paraplegia type 70 | -| Orphanet:401840 | Autosomal recessive spastic paraplegia type 71 | -| Orphanet:468661 | Autosomal recessive spastic paraplegia type 74 | -| Orphanet:459056 | Autosomal recessive spastic paraplegia type 75 | -| Orphanet:488594 | Autosomal recessive spastic paraplegia type 76 | -| Orphanet:466722 | Autosomal recessive spastic paraplegia type 77 | -| Orphanet:513436 | Autosomal recessive spastic paraplegia type 78 | -| Orphanet:631073 | Autosomal recessive spastic paraplegia type 82 | -| Orphanet:631076 | Autosomal recessive spastic paraplegia type 83 | -| Orphanet:631079 | Autosomal recessive spastic paraplegia type 84 | -| Orphanet:631082 | Autosomal recessive spastic paraplegia type 85 | -| Orphanet:631085 | Autosomal recessive spastic paraplegia type 86 | -| Orphanet:631088 | Autosomal recessive spastic paraplegia type 87 | -| Orphanet:447760 | Autosomal recessive spastic paraplegia type 9B | -| Orphanet:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | -| Orphanet:2311 | Autosomal recessive spondylocostal dysostosis | -| Orphanet:401979 | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type | -| Orphanet:98099 | Autosomal recessive syndromic cerebellar ataxia | -| Orphanet:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | -| Orphanet:209951 | Autosomal spastic paraplegia type 18 | -| Orphanet:101010 | Autosomal spastic paraplegia type 30 | -| Orphanet:397946 | Autosomal spastic paraplegia type 58 | -| Orphanet:401849 | Autosomal spastic paraplegia type 72 | -| Orphanet:300345 | Autosomal systemic lupus erythematosus | -| Orphanet:168629 | Autosomal thrombocytopenia with normal platelets | -| Orphanet:98130 | Autosomal trisomy | -| Orphanet:98152 | Autosomal uniparental disomy | -| Orphanet:399164 | Avascular necrosis | -| Orphanet:399388 | Avascular necrosis of genetic origin | -| Orphanet:454836 | Avian influenza | -| Orphanet:98978 | Axenfeld anomaly | -| Orphanet:782 | Axenfeld-Rieger syndrome | -| Orphanet:1834 | Axial mesodermal dysplasia spectrum | -| Orphanet:168549 | Axial spondylometaphyseal dysplasia | -| Orphanet:476109 | Axonal hereditary motor and sensory neuropathy | -| Orphanet:209004 | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy | -| Orphanet:1272 | Aymé-Gripp syndrome | -| Orphanet:99121 | Azygos continuation of the inferior vena cava | -| Orphanet:67038 | B-cell chronic lymphocytic leukemia | -| Orphanet:567502 | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome | -| Orphanet:86852 | B-cell prolymphocytic leukemia | -| Orphanet:585936 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy | -| Orphanet:585942 | B-lymphoblastic leukemia/lymphoma with hypodiploidy | -| Orphanet:585877 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality | -| Orphanet:585929 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) | -| Orphanet:641375 | B-lymphoblastic leukemia/lymphoma with t(17;19) | -| Orphanet:585956 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) | -| Orphanet:585948 | B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) | -| Orphanet:641372 | B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) | -| Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) | -| Orphanet:585918 | B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) | -| Orphanet:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | -| Orphanet:79332 | B4GALT1-CDG | -| Orphanet:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | -| Orphanet:289539 | BAP1-related tumor predisposition syndrome | -| Orphanet:464336 | BENTA disease | -| Orphanet:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | -| Orphanet:217266 | BNAR syndrome | -| Orphanet:107 | BOR syndrome | -| Orphanet:85284 | BRESEK syndrome | -| Orphanet:476084 | BVES-related limb-girdle muscular dystrophy | -| Orphanet:108 | Babesiosis | -| Orphanet:206994 | Bacterial myositis | -| Orphanet:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | -| Orphanet:36234 | Bacterial toxic-shock syndrome | -| Orphanet:352577 | Bainbridge-Ropers syndrome | -| Orphanet:1223 | Balantidiasis | -| Orphanet:363746 | Balint syndrome | -| Orphanet:1225 | Baller-Gerold syndrome | -| Orphanet:228165 | Baló concentric sclerosis | -| Orphanet:1226 | Bamforth-Lazarus syndrome | -| Orphanet:1227 | Bangstad syndrome | -| Orphanet:1228 | Banki syndrome | -| Orphanet:109 | Bannayan-Riley-Ruvalcaba syndrome | -| Orphanet:2995 | Baraitser-Winter cerebrofrontofacial syndrome | -| Orphanet:1231 | Barber-Say syndrome | -| Orphanet:110 | Bardet-Biedl syndrome | -| Orphanet:443084 | Baroreflex failure | -| Orphanet:111 | Barth syndrome | -| Orphanet:1234 | Bartsocas-Papas syndrome | -| Orphanet:112 | Bartter syndrome | -| Orphanet:620217 | Bartter syndrome type 1 | -| Orphanet:620220 | Bartter syndrome type 2 | -| Orphanet:93605 | Bartter syndrome type 3 | -| Orphanet:89938 | Bartter syndrome type 4 | -| Orphanet:570371 | Bartter syndrome type 5 | -| Orphanet:268829 | Basal encephalocele | -| Orphanet:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | -| Orphanet:100976 | Bathing suit ichthyosis | -| Orphanet:166113 | Bazex syndrome | -| Orphanet:113 | Bazex-Dupré-Christol syndrome | -| Orphanet:98895 | Becker muscular dystrophy | -| Orphanet:64755 | Becker nevus syndrome | -| Orphanet:116 | Beckwith-Wiedemann syndrome | -| Orphanet:231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion | -| Orphanet:96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication | -| Orphanet:231130 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | -| Orphanet:231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation | -| Orphanet:238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation | -| Orphanet:231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | -| Orphanet:96193 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | -| Orphanet:1237 | Beemer-Ertbruggen syndrome | -| Orphanet:275864 | Behavioral variant of frontotemporal dementia | -| Orphanet:117 | Behçet disease | -| Orphanet:1241 | Bencze syndrome | -| Orphanet:324581 | Benign Samaritan congenital myopathy | -| Orphanet:86814 | Benign adult familial myoclonic epilepsy | -| Orphanet:157997 | Benign cephalic histiocytosis | -| Orphanet:98816 | Benign childhood occipital epilepsy, Gastaut type | -| Orphanet:98815 | Benign childhood occipital epilepsy, Panayiotopoulos type | -| Orphanet:251287 | Benign concentric annular macular dystrophy | -| Orphanet:276148 | Benign epithelial tumor of salivary glands | -| Orphanet:306 | Benign familial infantile epilepsy | -| Orphanet:163717 | Benign familial mesial temporal lobe epilepsy | -| Orphanet:1949 | Benign familial neonatal epilepsy | -| Orphanet:140927 | Benign familial neonatal-infantile seizures | -| Orphanet:1544 | Benign focal seizures of adolescence | -| Orphanet:1429 | Benign hereditary chorea | -| Orphanet:64545 | Benign idiopathic neonatal seizures | -| Orphanet:166308 | Benign infantile focal epilepsy with midline spikes and waves during sleep | -| Orphanet:166305 | Benign infantile seizures associated with mild gastroenteritis | -| Orphanet:464359 | Benign metanephric tumor | -| Orphanet:209973 | Benign nocturnal alternating hemiplegia of childhood | -| Orphanet:166295 | Benign non-familial infantile seizures | -| Orphanet:25968 | Benign occipital epilepsy | -| Orphanet:1179 | Benign paroxysmal tonic upgaze of childhood with ataxia | -| Orphanet:71518 | Benign paroxysmal torticollis of infancy | -| Orphanet:166299 | Benign partial epilepsy of infancy with complex partial seizures | -| Orphanet:166302 | Benign partial epilepsy with secondarily generalized seizures in infancy | -| Orphanet:166311 | Benign partial infantile seizures | -| Orphanet:252131 | Benign peripheral nerve sheath tumor | -| Orphanet:65682 | Benign recurrent intrahepatic cholestasis | -| Orphanet:99960 | Benign recurrent intrahepatic cholestasis type 1 | -| Orphanet:99961 | Benign recurrent intrahepatic cholestasis type 2 | -| Orphanet:252164 | Benign schwannoma | -| Orphanet:180237 | Benign tumor of fallopian tubes | -| Orphanet:274 | Bernard-Soulier syndrome | -| Orphanet:1243 | Best vitelliform macular dystrophy | -| Orphanet:134 | Beta-ketothiolase deficiency | -| Orphanet:118 | Beta-mannosidosis | -| Orphanet:1035 | Beta-mercaptolactate cysteine disulfiduria | -| Orphanet:329284 | Beta-propeller protein-associated neurodegeneration | -| Orphanet:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | -| Orphanet:848 | Beta-thalassemia | -| Orphanet:231222 | Beta-thalassemia intermedia | -| Orphanet:231214 | Beta-thalassemia major | -| Orphanet:231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome | -| Orphanet:65287 | Beta-ureidopropionase deficiency | -| Orphanet:610 | Bethlem myopathy | -| Orphanet:180106 | Bicervical bicornuate uterus and blind hemivagina | -| Orphanet:180111 | Bicervical bicornuate uterus with patent cervix and vagina | -| Orphanet:79138 | Bickerstaff brainstem encephalitis | -| Orphanet:141333 | Biemond syndrome type 2 | -| Orphanet:41751 | Bietti crystalline dystrophy | -| Orphanet:2695 | Bifid nose | -| Orphanet:99771 | Bifid uvula | -| Orphanet:300 | Bifunctional enzyme deficiency | -| Orphanet:69736 | Bilateral acute depigmentation of the iris | -| Orphanet:208444 | Bilateral frontal polymicrogyria | -| Orphanet:101070 | Bilateral frontoparietal polymicrogyria | -| Orphanet:208447 | Bilateral generalized polymicrogyria | -| Orphanet:319205 | Bilateral massive adrenal hemorrhage | -| Orphanet:140963 | Bilateral microtia-deafness-cleft palate syndrome | -| Orphanet:97364 | Bilateral multicystic dysplastic kidney | -| Orphanet:208441 | Bilateral parasagittal parieto-occipital polymicrogyria | -| Orphanet:98889 | Bilateral perisylvian polymicrogyria | -| Orphanet:268940 | Bilateral polymicrogyria | -| Orphanet:1980 | Bilateral striopallidodentate calcinosis | -| Orphanet:276066 | Bile acid CoA ligase deficiency and defective amidation | -| Orphanet:498345 | Biliary atresia and associated disorders | -| Orphanet:244283 | Biliary atresia with splenic malformation syndrome | -| Orphanet:424982 | Biliary cystadenocarcinoma | -| Orphanet:415286 | Bilirubin encephalopathy | -| Orphanet:447874 | Biological anomaly without phenotypic characterization | -| Orphanet:65284 | Biotin-thiamine-responsive basal ganglia disease | -| Orphanet:79241 | Biotinidase deficiency | -| Orphanet:364198 | Bipartite talus | -| Orphanet:179 | Birdshot chorioretinopathy | -| Orphanet:122 | Birt-Hogg-Dubé syndrome | -| Orphanet:123 | Björnstad syndrome | -| Orphanet:93930 | Bladder exstrophy | -| Orphanet:98922 | Blake pouch cyst | -| Orphanet:86870 | Blastic plasmacytoid dendritic cell neoplasm | -| Orphanet:90340 | Blau syndrome | -| Orphanet:73271 | Bleeding diathesis due to a collagen receptor defect | -| Orphanet:98885 | Bleeding diathesis due to glycoprotein VI deficiency | -| Orphanet:98886 | Bleeding diathesis due to integrin alpha2-beta1 deficiency | -| Orphanet:220443 | Bleeding diathesis due to thromboxane synthesis deficiency | -| Orphanet:420566 | Bleeding disorder due to CalDAG-GEFI deficiency | -| Orphanet:36355 | Bleeding disorder due to P2Y12 defect | -| Orphanet:177926 | Bleeding disorder in hemophilia A carriers | -| Orphanet:177929 | Bleeding disorder in hemophilia B carriers | -| Orphanet:1997 | Blepharo-cheilo-odontic syndrome | -| Orphanet:1252 | Blepharonasofacial malformation syndrome | -| Orphanet:293642 | Blepharophimosis-intellectual disability syndrome | -| Orphanet:293707 | Blepharophimosis-intellectual disability syndrome, MKB type | -| Orphanet:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | -| Orphanet:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | -| Orphanet:293725 | Blepharophimosis-intellectual disability syndrome, Verloes type | -| Orphanet:597746 | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome | -| Orphanet:126 | Blepharophimosis-ptosis-epicanthus inversus syndrome | -| Orphanet:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | -| Orphanet:572354 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 | -| Orphanet:572361 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 | -| Orphanet:2057 | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | -| Orphanet:1259 | Blepharoptosis-myopia-ectopia lentis syndrome | -| Orphanet:93964 | Blepharospasm-oromandibular dystonia syndrome | -| Orphanet:171844 | Blindness-scoliosis-arachnodactyly syndrome | -| Orphanet:50945 | Blomstrand lethal chondrodysplasia | -| Orphanet:125 | Bloom syndrome | -| Orphanet:2768 | Blount disease | -| Orphanet:16 | Blue cone monochromatism | -| Orphanet:94086 | Blue diaper syndrome | -| Orphanet:1059 | Blue rubber bleb nevus | -| Orphanet:217008 | Bockenheimer syndrome | -| Orphanet:623789 | Body integrity dysphoria | -| Orphanet:91135 | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | -| Orphanet:97297 | Bohring-Opitz syndrome | -| Orphanet:319229 | Bolivian hemorrhagic fever | -| Orphanet:1842 | Bone dysplasia, lethal Holmgren type | -| Orphanet:223727 | Bone sarcoma | -| Orphanet:1261 | Bonnemann-Meinecke-Reich syndrome | -| Orphanet:1263 | Boomerang dysplasia | -| Orphanet:127 | Borjeson-Forssman-Lehmann syndrome | -| Orphanet:637051 | Borna virus encephalitis | -| Orphanet:69737 | Bosley-Salih-Alorainy syndrome | -| Orphanet:85128 | Bothnia retinal dystrophy | -| Orphanet:1267 | Botulism | -| Orphanet:83313 | Boutonneuse fever | -| Orphanet:1270 | Bowen-Conradi syndrome | -| Orphanet:2619 | Brachydactylous dwarfism, Mseleni type | -| Orphanet:93388 | Brachydactyly type A1 | -| Orphanet:93396 | Brachydactyly type A2 | -| Orphanet:93394 | Brachydactyly type A4 | -| Orphanet:93382 | Brachydactyly type A6 | -| Orphanet:93397 | Brachydactyly type A7 | -| Orphanet:93383 | Brachydactyly type B | -| Orphanet:572385 | Brachydactyly type B1 | -| Orphanet:140908 | Brachydactyly type B2 | -| Orphanet:93384 | Brachydactyly type C | -| Orphanet:93387 | Brachydactyly type E | -| Orphanet:1276 | Brachydactyly-arterial hypertension syndrome | -| Orphanet:1275 | Brachydactyly-elbow wrist dysplasia syndrome | -| Orphanet:2946 | Brachydactyly-long thumb syndrome | -| Orphanet:1277 | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome | -| Orphanet:1246 | Brachydactyly-nystagmus-cerebellar ataxia syndrome | -| Orphanet:1278 | Brachydactyly-preaxial hallux varus syndrome | -| Orphanet:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | -| Orphanet:93409 | Brachydactyly-syndactyly, Zhao type | -| Orphanet:1292 | Brachymorphism-onychodysplasia-dysphalangism syndrome | -| Orphanet:1293 | Brachyolmia | -| Orphanet:93302 | Brachyolmia, Maroteaux type | -| Orphanet:2899 | Brachyolmia-amelogenesis imperfecta syndrome | -| Orphanet:79345 | Brachytelephalangic chondrodysplasia punctata | -| Orphanet:1295 | Brachytelephalangy-dysmorphism-Kallmann syndrome | -| Orphanet:52047 | Braddock syndrome | -| Orphanet:75374 | Bradyopsia | -| Orphanet:178506 | Brain calcification, Rajab type | -| Orphanet:352649 | Brain dopamine-serotonin vesicular transport disease | -| Orphanet:102005 | Brain inflammatory disease | -| Orphanet:75389 | Brain malformation-congenital heart disease-postaxial polydactyly syndrome | -| Orphanet:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | -| Orphanet:209905 | Brain-lung-thyroid syndrome | -| Orphanet:139036 | Branchial arch or oral-acral syndrome | -| Orphanet:1297 | Branchio-oculo-facial syndrome | -| Orphanet:50815 | Branchiogenic deafness syndrome | -| Orphanet:52429 | Branchiootic syndrome | -| Orphanet:1299 | Branchioskeletogenital syndrome | -| Orphanet:319239 | Brazilian hemorrhagic fever | -| Orphanet:99990 | Brill-Zinsser disease | -| Orphanet:90354 | Brittle cornea syndrome | -| Orphanet:53347 | Brody myopathy | -| Orphanet:649014 | Bronchial malformation | -| Orphanet:97287 | Bronchial neuroendocrine tumor | -| Orphanet:1303 | Bronchiolitis obliterans with obstructive pulmonary disease | -| Orphanet:2357 | Bronchogenic cyst | -| Orphanet:70589 | Bronchopulmonary dysplasia | -| Orphanet:79493 | Brooke-Spiegler syndrome | -| Orphanet:1304 | Brucellosis | -| Orphanet:2771 | Bruck syndrome | -| Orphanet:130 | Brugada syndrome | -| Orphanet:131 | Budd-Chiari syndrome | -| Orphanet:36258 | Buerger disease | -| Orphanet:206701 | Bulbospinal muscular atrophy | -| Orphanet:206707 | Bulbospinal muscular atrophy of adult | -| Orphanet:206704 | Bulbospinal muscular atrophy of childhood | -| Orphanet:280785 | Bullous diffuse cutaneous mastocytosis | -| Orphanet:36237 | Bullous impetigo | -| Orphanet:33408 | Bullous lichen planus | -| Orphanet:703 | Bullous pemphigoid | -| Orphanet:538869 | Bullous pyoderma gangrenosum | -| Orphanet:543 | Burkitt lymphoma | -| Orphanet:1200 | Burn-McKeown syndrome | -| Orphanet:353253 | Burning mouth syndrome | -| Orphanet:99001 | Butterfly-shaped pigment dystrophy | -| Orphanet:132 | Butyrylcholinesterase deficiency | -| Orphanet:1262 | Böök syndrome | -| Orphanet:1308 | C syndrome | -| Orphanet:495844 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | -| Orphanet:497623 | C12ORF65-related combined oxidative phosphorylation defect | -| Orphanet:329931 | C3 glomerulonephritis | -| Orphanet:329918 | C3 glomerulopathy | -| Orphanet:135 | CACH syndrome | -| Orphanet:448010 | CAD-CDG | -| Orphanet:369942 | CADDS | -| Orphanet:619972 | CADINS disease | -| Orphanet:83472 | CAMOS syndrome | -| Orphanet:71279 | CANOMAD syndrome | -| Orphanet:468684 | CCDC115-CDG | -| Orphanet:600668 | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | -| Orphanet:646278 | CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome | -| Orphanet:505652 | CDKL5-deficiency disorder | -| Orphanet:566067 | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome | -| Orphanet:66631 | CEDNIK syndrome | -| Orphanet:569816 | CELSR1-related late-onset primary lymphedema | -| Orphanet:1401 | CHAND syndrome | -| Orphanet:138 | CHARGE syndrome | -| Orphanet:599082 | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome | -| Orphanet:642675 | CHD8 overgrowth syndrome | -| Orphanet:139 | CHILD syndrome | -| Orphanet:3474 | CHIME syndrome | -| Orphanet:263463 | CHST3-related skeletal dysplasia | -| Orphanet:435651 | CIDEC-related familial partial lipodystrophy | -| Orphanet:1451 | CINCA syndrome | -| Orphanet:251383 | CK syndrome | -| Orphanet:168984 | CLAPO syndrome | -| Orphanet:485350 | CLCN4-related X-linked intellectual disability syndrome | -| Orphanet:610573 | CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome | -| Orphanet:284448 | CLIPPERS | -| Orphanet:228329 | CLN1 disease | -| Orphanet:228337 | CLN10 disease | -| Orphanet:314629 | CLN11 disease | -| Orphanet:352709 | CLN13 disease | -| Orphanet:228349 | CLN2 disease | -| Orphanet:228346 | CLN3 disease | -| Orphanet:228340 | CLN4A disease | -| Orphanet:228343 | CLN4B disease | -| Orphanet:228360 | CLN5 disease | -| Orphanet:228363 | CLN6 disease | -| Orphanet:228366 | CLN7 disease | -| Orphanet:228354 | CLN8 disease | -| Orphanet:228357 | CLN9 disease | -| Orphanet:140944 | CLOVES syndrome | -| Orphanet:163681 | CNTNAP2-related developmental and epileptic encephalopathy | -| Orphanet:397725 | COASY protein-associated neurodegeneration | -| Orphanet:1458 | CODAS syndrome | -| Orphanet:1466 | COFS syndrome | -| Orphanet:263508 | COG1-CDG | -| Orphanet:435934 | COG2-CDG | -| Orphanet:263501 | COG4-CDG | -| Orphanet:263487 | COG5-CDG | -| Orphanet:464443 | COG6-CGD | -| Orphanet:79333 | COG7-CDG | -| Orphanet:95428 | COG8-CDG | -| Orphanet:477759 | COL4A1 or COL4A2-related cerebral small vessel disease | -| Orphanet:477765 | COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy | -| Orphanet:477762 | COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy | -| Orphanet:36383 | COL4A1-related familial vascular leukoencephalopathy | -| Orphanet:633028 | CPE-related Prader-Willi-like syndrome | -| Orphanet:363611 | CTCF-related neurodevelopmental disorder | -| Orphanet:1310 | Caffey disease | -| Orphanet:199260 | Calcifying aponeurotic fibroma | -| Orphanet:280062 | Calciphylaxis | -| Orphanet:280065 | Calciphylaxis cutis | -| Orphanet:565909 | Calpain-3-related limb-girdle muscular dystrophy D4 | -| Orphanet:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | -| Orphanet:85192 | Calvarial doughnut lesions-bone fragility syndrome | -| Orphanet:1318 | Campomelia, Cumming type | -| Orphanet:140 | Campomelic dysplasia | -| Orphanet:93439 | Campomelic dysplasia and related disorders | -| Orphanet:1319 | Camptobrachydactyly | -| Orphanet:295016 | Camptodactyly of fingers | -| Orphanet:1327 | Camptodactyly syndrome, Guadalajara type 1 | -| Orphanet:1326 | Camptodactyly syndrome, Guadalajara type 2 | -| Orphanet:488434 | Camptodactyly syndrome, Guadalajara type 3 | -| Orphanet:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | -| Orphanet:1321 | Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome | -| Orphanet:1323 | Camptodactyly-joint contractures-facial skeletal defects syndrome | -| Orphanet:85164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | -| Orphanet:1325 | Camptodactyly-taurinuria syndrome | -| Orphanet:1328 | Camurati-Engelmann disease | -| Orphanet:141 | Canavan disease | -| Orphanet:631251 | Cancer of unknown primary site | -| Orphanet:71505 | Cancer-associated retinopathy | -| Orphanet:1517 | Cantú syndrome | -| Orphanet:171881 | Cap myopathy | -| Orphanet:160148 | Cap polyposis | -| Orphanet:137667 | Capillary malformation-arteriovenous malformation | -| Orphanet:147 | Carbamoyl-phosphate synthetase 1 deficiency | -| Orphanet:213605 | Carcinofibroma of the corpus uteri | -| Orphanet:100093 | Carcinoid syndrome | -| Orphanet:70482 | Carcinoma of esophagus | -| Orphanet:418945 | Carcinoma of esophagus, salivary gland type | -| Orphanet:300557 | Carcinoma of the ampulla of Vater | -| Orphanet:213787 | Carcinosarcoma of the cervix uteri | -| Orphanet:213610 | Carcinosarcoma of the corpus uteri | -| Orphanet:137628 | Cardiac anomalies-heterotaxy syndrome | -| Orphanet:1686 | Cardiac diverticulum | -| Orphanet:647811 | Cardiac-urogenital syndrome | -| Orphanet:230851 | Cardiac-valvular Ehlers-Danlos syndrome | -| Orphanet:2872 | Cardiocranial syndrome, Pfeiffer type | -| Orphanet:1340 | Cardiofaciocutaneous syndrome | -| Orphanet:1345 | Cardiomyopathy-cataract-hip spine disease syndrome | -| Orphanet:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | -| Orphanet:3238 | Cardiospondylocarpofacial syndrome | -| Orphanet:1358 | Carey-Fineman-Ziter syndrome | -| Orphanet:97355 | Caribbean parkinsonism | -| Orphanet:1359 | Carney complex | -| Orphanet:319340 | Carney complex-trismus-pseudocamptodactyly syndrome | -| Orphanet:139411 | Carney triad | -| Orphanet:97286 | Carney-Stratakis syndrome | -| Orphanet:156 | Carnitine palmitoyl transferase 1A deficiency | -| Orphanet:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | -| Orphanet:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | -| Orphanet:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | -| Orphanet:157 | Carnitine palmitoyltransferase II deficiency | -| Orphanet:159 | Carnitine-acylcarnitine translocase deficiency | -| Orphanet:1361 | Carnosinase deficiency | -| Orphanet:53035 | Caroli disease | -| Orphanet:480520 | Caroli syndrome | -| Orphanet:65759 | Carpenter syndrome | -| Orphanet:2767 | Carpotarsal osteochondromatosis | -| Orphanet:175 | Cartilage-hair hypoplasia | -| Orphanet:65282 | Carvajal syndrome | -| Orphanet:160 | Castleman disease | -| Orphanet:195 | Cat-eye syndrome | -| Orphanet:50839 | Cat-scratch disease | -| Orphanet:1373 | Cataract-aberrant oral frenula-growth delay syndrome | -| Orphanet:1368 | Cataract-ataxia-deafness syndrome | -| Orphanet:314993 | Cataract-congenital heart disease-neural tube defect syndrome | -| Orphanet:1383 | Cataract-deafness-hypogonadism syndrome | -| Orphanet:162 | Cataract-glaucoma syndrome | -| Orphanet:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | -| Orphanet:1375 | Cataract-hypertrichosis-intellectual disability syndrome | -| Orphanet:1381 | Cataract-intellectual disability-anal atresia-urinary defects syndrome | -| Orphanet:1387 | Cataract-intellectual disability-hypogonadism syndrome | -| Orphanet:1377 | Cataract-microcornea syndrome | -| Orphanet:1380 | Cataract-nephropathy-encephalopathy syndrome | -| Orphanet:464343 | Catastrophic antiphospholipid syndrome | -| Orphanet:3286 | Catecholaminergic polymorphic ventricular tachycardia | -| Orphanet:1388 | Catel-Manzke syndrome | -| Orphanet:575553 | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy | -| Orphanet:1123 | Caudal appendage-deafness syndrome | -| Orphanet:1756 | Caudal duplication | -| Orphanet:3027 | Caudal regression syndrome | -| Orphanet:165958 | Cavitary myiasis | -| Orphanet:293208 | Celiac artery compression syndrome | -| Orphanet:1459 | Celiac disease-epilepsy-cerebral calcification syndrome | -| Orphanet:3258 | Cenani-Lenz syndrome | -| Orphanet:75377 | Central areolar choroidal dystrophy | -| Orphanet:98972 | Central cloudy dystrophy of François | -| Orphanet:226298 | Central congenital hypothyroidism | -| Orphanet:597 | Central core disease | -| Orphanet:178029 | Central diabetes insipidus | -| Orphanet:3240 | Central nervous system calcification-deafness-tubular acidosis-anemia syndrome | -| Orphanet:269194 | Central nervous system cystic malformation | -| Orphanet:251870 | Central nervous system embryonal tumor | -| Orphanet:98044 | Central nervous system malformation | -| Orphanet:641396 | Central nervous system tuberculosis | -| Orphanet:73256 | Central neurocytoma | -| Orphanet:295004 | Central polydactyly | -| Orphanet:649929 | Central precocious puberty in male | -| Orphanet:648684 | Central retinal artery occlusion | -| Orphanet:411527 | Central retinal vein occlusion | -| Orphanet:443079 | Central serous chorioretinopathy | -| Orphanet:90156 | Centrifugal lipodystrophy | -| Orphanet:595 | Centronuclear myopathy | -| Orphanet:268817 | Cephalocele | -| Orphanet:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | -| Orphanet:207028 | Cerebellar ataxia with peripheral neuropathy | -| Orphanet:94122 | Cerebellar ataxia, Cayman type | -| Orphanet:1171 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | -| Orphanet:1174 | Cerebellar ataxia-ectodermal dysplasia syndrome | -| Orphanet:1173 | Cerebellar ataxia-hypogonadism syndrome | -| Orphanet:603448 | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | -| Orphanet:2246 | Cerebellar hypoplasia-tapetoretinal degeneration syndrome | -| Orphanet:251931 | Cerebellar liponeurocytoma | -| Orphanet:182061 | Cerebellar malformation | -| Orphanet:444072 | Cerebellar-facial-dental syndrome | -| Orphanet:46724 | Cerebral arteriovenous malformation | -| Orphanet:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | -| Orphanet:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | -| Orphanet:268950 | Cerebral cortical dysplasia | -| Orphanet:166487 | Cerebral diseases of vascular origin with epilepsy | -| Orphanet:98544 | Cerebral lipidosis with dementia | -| Orphanet:166478 | Cerebral malformation with epilepsy | -| Orphanet:79158 | Cerebral organic aciduria | -| Orphanet:329217 | Cerebral sinovenous thrombosis | -| Orphanet:447788 | Cerebral visual impairment | -| Orphanet:1393 | Cerebrocostomandibular syndrome | -| Orphanet:141189 | Cerebrofacial arteriovenous metameric syndrome | -| Orphanet:141194 | Cerebrofacial arteriovenous metameric syndrome type 1 | -| Orphanet:141199 | Cerebrofacial arteriovenous metameric syndrome type 3 | -| Orphanet:314679 | Cerebrofacioarticular syndrome | -| Orphanet:1394 | Cerebrofaciothoracic dysplasia | -| Orphanet:66625 | Cerebrooculonasal syndrome | -| Orphanet:909 | Cerebrotendinous xanthomatosis | -| Orphanet:169079 | Cernunnos-XLF deficiency | -| Orphanet:98989 | Cerulean cataract | -| Orphanet:99079 | Cervical aortic arch | -| Orphanet:141046 | Cervical dermoid cyst | -| Orphanet:2218 | Cervical hypertrichosis-peripheral neuropathy syndrome | -| Orphanet:141067 | Cervicofacial fibrochondroma | -| Orphanet:98979 | Chandler syndrome | -| Orphanet:182083 | Channelopathy with epilepsy | -| Orphanet:645285 | Chaotic conus spinal cord lipoma | -| Orphanet:319244 | Chapare hemorrhagic fever | -| Orphanet:46627 | Char syndrome | -| Orphanet:65753 | Charcot-Marie-Tooth disease type 1 | -| Orphanet:101081 | Charcot-Marie-Tooth disease type 1A | -| Orphanet:101082 | Charcot-Marie-Tooth disease type 1B | -| Orphanet:101083 | Charcot-Marie-Tooth disease type 1C | -| Orphanet:101084 | Charcot-Marie-Tooth disease type 1D | -| Orphanet:90658 | Charcot-Marie-Tooth disease type 1E | -| Orphanet:101085 | Charcot-Marie-Tooth disease type 1F | -| Orphanet:98856 | Charcot-Marie-Tooth disease type 2B1 | -| Orphanet:101101 | Charcot-Marie-Tooth disease type 2B2 | -| Orphanet:228374 | Charcot-Marie-Tooth disease type 2B5 | -| Orphanet:101102 | Charcot-Marie-Tooth disease type 2H | -| Orphanet:300319 | Charcot-Marie-Tooth disease type 2P | -| Orphanet:397968 | Charcot-Marie-Tooth disease type 2R | -| Orphanet:443073 | Charcot-Marie-Tooth disease type 2S | -| Orphanet:495274 | Charcot-Marie-Tooth disease type 2T | -| Orphanet:64749 | Charcot-Marie-Tooth disease type 4 | -| Orphanet:99948 | Charcot-Marie-Tooth disease type 4A | -| Orphanet:99955 | Charcot-Marie-Tooth disease type 4B1 | -| Orphanet:99956 | Charcot-Marie-Tooth disease type 4B2 | -| Orphanet:363981 | Charcot-Marie-Tooth disease type 4B3 | -| Orphanet:99949 | Charcot-Marie-Tooth disease type 4C | -| Orphanet:99950 | Charcot-Marie-Tooth disease type 4D | -| Orphanet:99951 | Charcot-Marie-Tooth disease type 4E | -| Orphanet:99952 | Charcot-Marie-Tooth disease type 4F | -| Orphanet:99953 | Charcot-Marie-Tooth disease type 4G | -| Orphanet:99954 | Charcot-Marie-Tooth disease type 4H | -| Orphanet:139515 | Charcot-Marie-Tooth disease type 4J | -| Orphanet:90103 | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome | -| Orphanet:166 | Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy | -| Orphanet:1406 | Charlie M syndrome | -| Orphanet:1221 | Cheilitis glandularis | -| Orphanet:99647 | Cheirospondyloenchondromatosis | -| Orphanet:184 | Cherubism | -| Orphanet:324625 | Chikungunya | -| Orphanet:90280 | Chilblain lupus | -| Orphanet:64280 | Childhood absence epilepsy | -| Orphanet:168782 | Childhood disintegrative disorder | -| Orphanet:293955 | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | -| Orphanet:589824 | Childhood-onset Steinert myotonic dystrophy | -| Orphanet:363677 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | -| Orphanet:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | -| Orphanet:497906 | Childhood-onset basal ganglia degeneration syndrome | -| Orphanet:494541 | Childhood-onset benign chorea with striatal involvement | -| Orphanet:98259 | Childhood-onset epilepsy syndrome | -| Orphanet:247667 | Childhood-onset hypophosphatasia | -| Orphanet:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | -| Orphanet:171439 | Childhood-onset nemaline myopathy | -| Orphanet:466921 | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome | -| Orphanet:641496 | Childhood-onset schizophrenia | -| Orphanet:401866 | Childhood-onset spasticity with hyperglycinemia | -| Orphanet:137914 | Choanal atresia | -| Orphanet:137920 | Choanal atresia, bilateral | -| Orphanet:137917 | Choanal atresia, unilateral | -| Orphanet:589856 | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | -| Orphanet:70567 | Cholangiocarcinoma | -| Orphanet:480501 | Choledochal cyst | -| Orphanet:173 | Cholera | -| Orphanet:1414 | Cholestasis-lymphedema syndrome | -| Orphanet:1415 | Cholestasis-pigmentary retinopathy-cleft palate syndrome | -| Orphanet:79506 | Cholesterol-ester transfer protein deficiency | -| Orphanet:75234 | Cholesteryl ester storage disease | -| Orphanet:93442 | Chondrodysplasia punctata | -| Orphanet:79347 | Chondrodysplasia punctata, Toriello type | -| Orphanet:79346 | Chondrodysplasia punctata, tibial-metacarpal type | -| Orphanet:280586 | Chondrodysplasia with joint dislocations, gPAPP type | -| Orphanet:1422 | Chondrodysplasia-difference of sex development syndrome | -| Orphanet:319195 | Chondroectodermal dysplasia with night blindness | -| Orphanet:404507 | Chondromyxoid fibroma | -| Orphanet:55880 | Chondrosarcoma | -| Orphanet:251674 | Chordoid glioma | -| Orphanet:178 | Chordoma | -| Orphanet:2388 | Choreoacanthocytosis | -| Orphanet:252015 | Choriocarcinoma of the central nervous system | -| Orphanet:251899 | Choroid plexus carcinoma | -| Orphanet:251896 | Choroid plexus tumor | -| Orphanet:1433 | Choroidal atrophy-alopecia syndrome | -| Orphanet:180 | Choroideremia | -| Orphanet:85278 | Christianson syndrome | -| Orphanet:182 | Chromomycosis | -| Orphanet:319303 | Chromophobe renal cell carcinoma | -| Orphanet:98642 | Chromosomal anomaly with cataract | -| Orphanet:166469 | Chromosomal anomaly with epilepsy as a major feature | -| Orphanet:93461 | Chromosomal disease with overgrowth | -| Orphanet:98159 | Chromosome X structural anomaly | -| Orphanet:98158 | Chromosome Y structural anomaly | -| Orphanet:2566 | Chronic Epstein-Barr virus infection syndrome | -| Orphanet:208974 | Chronic acquired demyelinating polyneuropathy | -| Orphanet:330064 | Chronic actinic dermatitis | -| Orphanet:435988 | Chronic atrial and intestinal dysrhythmia syndrome | -| Orphanet:133 | Chronic beryllium disease | -| Orphanet:529808 | Chronic bilirubin encephalopathy | -| Orphanet:163531 | Chronic cutaneous lupus erythematosus | -| Orphanet:103907 | Chronic diarrhea due to glucoamylase deficiency | -| Orphanet:1670 | Chronic diarrhea with villous atrophy | -| Orphanet:98255 | Chronic encephalitis | -| Orphanet:279891 | Chronic endophthalmitis | -| Orphanet:468641 | Chronic enteropathy associated with SLCO2A1 gene | -| Orphanet:168940 | Chronic eosinophilic leukemia | -| Orphanet:99921 | Chronic graft versus host disease | -| Orphanet:379 | Chronic granulomatous disease | -| Orphanet:95161 | Chronic hepatic porphyria | -| Orphanet:396 | Chronic hiccup | -| Orphanet:314373 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | -| Orphanet:2932 | Chronic inflammatory demyelinating polyneuropathy | -| Orphanet:615970 | Chronic intervillositis of unknown etiology | -| Orphanet:294422 | Chronic intestinal failure | -| Orphanet:2978 | Chronic intestinal pseudoobstruction | -| Orphanet:512017 | Chronic lymphoproliferative disorder of natural killer cells | -| Orphanet:566396 | Chronic mast cell leukemia | -| Orphanet:1334 | Chronic mucocutaneous candidiasis | -| Orphanet:521 | Chronic myeloid leukemia | -| Orphanet:98823 | Chronic myelomonocytic leukemia | -| Orphanet:86830 | Chronic myeloproliferative disease, unclassifiable | -| Orphanet:618891 | Chronic neurovisceral acid sphingomyelinase deficiency | -| Orphanet:86829 | Chronic neutrophilic leukemia | -| Orphanet:324964 | Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis | -| Orphanet:91359 | Chronic pneumonitis of infancy | -| Orphanet:208978 | Chronic polyradiculoneuropathy | -| Orphanet:101959 | Chronic primary adrenal insufficiency | -| Orphanet:499085 | Chronic relapsing inflammatory optic neuropathy | -| Orphanet:217566 | Chronic respiratory distress with surfactant metabolism deficiency | -| Orphanet:70591 | Chronic thromboembolic pulmonary hypertension | -| Orphanet:77293 | Chronic visceral acid sphingomyelinase deficiency | -| Orphanet:314597 | Chudley-McCullough syndrome | -| Orphanet:238557 | Chuvash erythrocytosis | -| Orphanet:71 | Chylomicron retention disease | -| Orphanet:1160 | Chylous ascites | -| Orphanet:167 | Chédiak-Higashi syndrome | -| Orphanet:93426 | Ciliopathies with major skeletal involvement | -| Orphanet:363250 | Ciliopathy | -| Orphanet:69744 | Circumscribed palmoplantar hypokeratosis | -| Orphanet:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | -| Orphanet:57777 | Cirrhotic cardiomyopathy | -| Orphanet:247582 | Citrin deficiency | -| Orphanet:187 | Citrullinemia | -| Orphanet:247525 | Citrullinemia type I | -| Orphanet:247585 | Citrullinemia type II | -| Orphanet:600731 | Clark-Baraitser syndrome | -| Orphanet:466026 | Class I glucose-6-phosphate dehydrogenase deficiency | -| Orphanet:391 | Classic Hodgkin lymphoma | -| Orphanet:98846 | Classic Hodgkin lymphoma, lymphocyte-depleted type | -| Orphanet:98845 | Classic Hodgkin lymphoma, lymphocyte-rich type | -| Orphanet:98844 | Classic Hodgkin lymphoma, mixed cellularity type | -| Orphanet:98843 | Classic Hodgkin lymphoma, nodular sclerosis type | -| Orphanet:90794 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | -| Orphanet:315306 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | -| Orphanet:315311 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | -| Orphanet:325524 | Classic congenital lipoid adrenal hyperplasia due to STAR deficency | -| Orphanet:617408 | Classic eosinophilic pustular folliculitis | -| Orphanet:79239 | Classic galactosemia | -| Orphanet:71277 | Classic glucose transporter type 1 deficiency syndrome | -| Orphanet:58017 | Classic hairy cell leukemia | -| Orphanet:394 | Classic homocystinuria | -| Orphanet:102009 | Classic lissencephaly | -| Orphanet:268145 | Classic maple syrup urine disease | -| Orphanet:251867 | Classic medulloblastoma | -| Orphanet:324604 | Classic multiminicore myopathy | -| Orphanet:2584 | Classic mycosis fungoides | -| Orphanet:329977 | Classic neuroendocrine tumor of appendix | -| Orphanet:79163 | Classic organic aciduria | -| Orphanet:216866 | Classic pantothenate kinase-associated neurodegeneration | -| Orphanet:79254 | Classic phenylketonuria | -| Orphanet:240071 | Classic progressive supranuclear palsy syndrome | -| Orphanet:538863 | Classic pyoderma gangrenosum | -| Orphanet:443192 | Classic stiff person syndrome | -| Orphanet:287 | Classical Ehlers-Danlos syndrome | -| Orphanet:645613 | Classical dermatomyositis | -| Orphanet:230839 | Classical-like Ehlers-Danlos syndrome type 1 | -| Orphanet:536532 | Classical-like Ehlers-Danlos syndrome type 2 | -| Orphanet:398971 | Clear cell adenocarcinoma of the ovary | -| Orphanet:404511 | Clear cell papillary renal cell carcinoma | -| Orphanet:319276 | Clear cell renal carcinoma | -| Orphanet:457246 | Clear cell sarcoma of kidney | -| Orphanet:101023 | Cleft hard palate | -| Orphanet:141291 | Cleft lip and alveolus | -| Orphanet:508476 | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome | -| Orphanet:1991 | Cleft lip with or without cleft palate | -| Orphanet:1995 | Cleft lip-retinopathy syndrome | -| Orphanet:199306 | Cleft lip/palate | -| Orphanet:2003 | Cleft lip/palate-deafness-sacral lipoma syndrome | -| Orphanet:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | -| Orphanet:2001 | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome | -| Orphanet:95465 | Cleft mitral valve | -| Orphanet:2014 | Cleft palate | -| Orphanet:2013 | Cleft palate-large ears-small head syndrome | -| Orphanet:2016 | Cleft palate-lateral synechia syndrome | -| Orphanet:2015 | Cleft palate-short stature-vertebral anomalies syndrome | -| Orphanet:2010 | Cleft palate-stapes fixation-oligodontia syndrome | -| Orphanet:99772 | Cleft velum | -| Orphanet:1452 | Cleidocranial dysplasia | -| Orphanet:93451 | Cleidocranial dysplasia and isolated cranial ossification defect | -| Orphanet:1453 | Cleidorhizomelic syndrome | -| Orphanet:98958 | Climatic droplet keratopathy | -| Orphanet:93929 | Cloacal exstrophy | -| Orphanet:268366 | Closed iniencephaly | -| Orphanet:645202 | Closed spinal dysraphism | -| Orphanet:100978 | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome | -| Orphanet:93267 | Cloverleaf skull-multiple congenital anomalies syndrome | -| Orphanet:190 | Coats disease | -| Orphanet:313838 | Coats plus syndrome | -| Orphanet:51577 | Cobblestone lissencephaly | -| Orphanet:352682 | Cobblestone lissencephaly without muscular or ocular involvement | -| Orphanet:1911 | Cocaine embryofetopathy | -| Orphanet:90068 | Cocaine intoxication | -| Orphanet:228123 | Coccidioidomycosis | -| Orphanet:502318 | Cochlear nerve deficiency | -| Orphanet:3233 | Cochleosaccular degeneration-cataract syndrome | -| Orphanet:502305 | Cochleovestibular malformation | -| Orphanet:191 | Cockayne syndrome | -| Orphanet:90321 | Cockayne syndrome type 1 | -| Orphanet:90322 | Cockayne syndrome type 2 | -| Orphanet:90324 | Cockayne syndrome type 3 | -| Orphanet:35656 | Coenzyme Q10 deficiency | -| Orphanet:192 | Coffin-Lowry syndrome | -| Orphanet:1465 | Coffin-Siris syndrome | -| Orphanet:1467 | Cogan syndrome | -| Orphanet:98980 | Cogan-Reese syndrome | -| Orphanet:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | -| Orphanet:193 | Cohen syndrome | -| Orphanet:31824 | Colchicine poisoning | -| Orphanet:56425 | Cold agglutinin disease | -| Orphanet:157820 | Cold-induced sweating syndrome | -| Orphanet:401993 | Cold-induced sweating syndrome-hyperthermia spectrum | -| Orphanet:2050 | Cole-Carpenter syndrome | -| Orphanet:646098 | Collagen VI-related congenital muscular dystrophy | -| Orphanet:84087 | Collagen type III glomerulopathy | -| Orphanet:247203 | Collecting duct carcinoma | -| Orphanet:98942 | Coloboma of choroid and retina | -| Orphanet:98943 | Coloboma of eye lens | -| Orphanet:98946 | Coloboma of eyelid | -| Orphanet:155889 | Coloboma of inferior eyelid | -| Orphanet:98944 | Coloboma of iris | -| Orphanet:98945 | Coloboma of macula | -| Orphanet:1471 | Coloboma of macula-brachydactyly type B syndrome | -| Orphanet:98947 | Coloboma of optic disc | -| Orphanet:155884 | Coloboma of superior eyelid | -| Orphanet:603494 | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome | -| Orphanet:468672 | Colobomatous macrophthalmia-microcornea syndrome | -| Orphanet:98938 | Colobomatous microphthalmia | -| Orphanet:363741 | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | -| Orphanet:424099 | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | -| Orphanet:435930 | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | -| Orphanet:1198 | Colonic atresia | -| Orphanet:98658 | Color-vision disease | -| Orphanet:83595 | Colorado tick fever | -| Orphanet:101972 | Combined T and B cell immunodeficiency | -| Orphanet:35909 | Combined deficiency of factor V and factor VIII | -| Orphanet:600691 | Combined deficiency of factor VII and factor X | -| Orphanet:98203 | Combined dystonia | -| Orphanet:440727 | Combined hamartoma of the retina and retinal pigment epithelium | -| Orphanet:529852 | Combined hepatocellular carcinoma and cholangiocarcinoma | -| Orphanet:221078 | Combined hyperactive dysfunction syndrome of the cranial nerves | -| Orphanet:542301 | Combined immunodeficiency due to CARMIL2 deficiency | -| Orphanet:238505 | Combined immunodeficiency due to CD27 deficiency | -| Orphanet:169082 | Combined immunodeficiency due to CD3gamma deficiency | -| Orphanet:538958 | Combined immunodeficiency due to CD70 deficiency | -| Orphanet:169090 | Combined immunodeficiency due to CRAC channel dysfunction | -| Orphanet:217390 | Combined immunodeficiency due to DOCK8 deficiency | -| Orphanet:647804 | Combined immunodeficiency due to FCHO1 deficiency | -| Orphanet:505227 | Combined immunodeficiency due to GINS1 deficiency | -| Orphanet:357329 | Combined immunodeficiency due to IL21R deficiency | -| Orphanet:538963 | Combined immunodeficiency due to ITK deficiency | -| Orphanet:445018 | Combined immunodeficiency due to LRBA deficiency | -| Orphanet:397964 | Combined immunodeficiency due to MALT1 deficiency | -| Orphanet:504530 | Combined immunodeficiency due to Moesin deficiency | -| Orphanet:317428 | Combined immunodeficiency due to ORAI1 deficiency | -| Orphanet:431149 | Combined immunodeficiency due to OX40 deficiency | -| Orphanet:596759 | Combined immunodeficiency due to RELA haploinsufficiency | -| Orphanet:317430 | Combined immunodeficiency due to STIM1 deficiency | -| Orphanet:314689 | Combined immunodeficiency due to STK4 deficiency | -| Orphanet:476113 | Combined immunodeficiency due to TFRC deficiency | -| Orphanet:911 | Combined immunodeficiency due to ZAP70 deficiency | -| Orphanet:231154 | Combined immunodeficiency due to partial RAG1 deficiency | -| Orphanet:221139 | Combined immunodeficiency with facio-oculo-skeletal anomalies | -| Orphanet:157949 | Combined immunodeficiency with granulomatosis | -| Orphanet:436252 | Combined immunodeficiency-enteropathy spectrum | -| Orphanet:289504 | Combined malonic and methylmalonic acidemia | -| Orphanet:324535 | Combined oxidative phosphorylation defect type 11 | -| Orphanet:319514 | Combined oxidative phosphorylation defect type 13 | -| Orphanet:319519 | Combined oxidative phosphorylation defect type 14 | -| Orphanet:319524 | Combined oxidative phosphorylation defect type 15 | -| Orphanet:369913 | Combined oxidative phosphorylation defect type 17 | -| Orphanet:254920 | Combined oxidative phosphorylation defect type 2 | -| Orphanet:420728 | Combined oxidative phosphorylation defect type 20 | -| Orphanet:420733 | Combined oxidative phosphorylation defect type 21 | -| Orphanet:444013 | Combined oxidative phosphorylation defect type 23 | -| Orphanet:444458 | Combined oxidative phosphorylation defect type 24 | -| Orphanet:447954 | Combined oxidative phosphorylation defect type 25 | -| Orphanet:477684 | Combined oxidative phosphorylation defect type 26 | -| Orphanet:477774 | Combined oxidative phosphorylation defect type 27 | -| Orphanet:478029 | Combined oxidative phosphorylation defect type 29 | -| Orphanet:478042 | Combined oxidative phosphorylation defect type 30 | -| Orphanet:565624 | Combined oxidative phosphorylation defect type 39 | -| Orphanet:254925 | Combined oxidative phosphorylation defect type 4 | -| Orphanet:254930 | Combined oxidative phosphorylation defect type 7 | -| Orphanet:319504 | Combined oxidative phosphorylation defect type 8 | -| Orphanet:319509 | Combined oxidative phosphorylation defect type 9 | -| Orphanet:309111 | Combined pancreatic lipase-colipase deficiency | -| Orphanet:95494 | Combined pituitary hormone deficiencies, genetic forms | -| Orphanet:300564 | Combined pulmonary fibrosis-emphysema syndrome | -| Orphanet:141061 | Commissural lip fistula | -| Orphanet:458833 | Common cystic lymphatic malformation | -| Orphanet:1572 | Common variable immunodeficiency | -| Orphanet:280821 | Communicating congenital bronchopulmonary-foregut malformation | -| Orphanet:280133 | Complement component 3 deficiency | -| Orphanet:566175 | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome | -| Orphanet:99429 | Complete androgen insensitivity syndrome | -| Orphanet:1329 | Complete atrioventricular septal defect | -| Orphanet:99067 | Complete atrioventricular septal defect with ventricular hypoplasia | -| Orphanet:576227 | Complete atrioventricular septal defect without ventricular hypoplasia | -| Orphanet:99068 | Complete atrioventricular septal defect-tetralogy of Fallot | -| Orphanet:98949 | Complete cryptophthalmia | -| Orphanet:498491 | Complete hemimelia | -| Orphanet:254688 | Complete hydatidiform mole | -| Orphanet:180126 | Complete septate uterus | -| Orphanet:263708 | Complex chromosomal rearrangement | -| Orphanet:102013 | Complex hereditary spastic paraplegia | -| Orphanet:457378 | Complex lethal osteochondrodysplasia | -| Orphanet:83452 | Complex regional pain syndrome | -| Orphanet:99995 | Complex regional pain syndrome type 1 | -| Orphanet:99994 | Complex regional pain syndrome type 2 | -| Orphanet:211277 | Complex vascular malformation with associated anomalies | -| Orphanet:306644 | Complication after organ transplantation | -| Orphanet:458758 | Composite hemangioendothelioma | -| Orphanet:168966 | Composite lymphoma | -| Orphanet:3216 | Conductive deafness-malformed external ear syndrome | -| Orphanet:3236 | Conductive deafness-ptosis-skeletal anomalies syndrome | -| Orphanet:209932 | Cone dystrophy with supernormal rod response | -| Orphanet:1872 | Cone rod dystrophy | -| Orphanet:221142 | Confetti-like macular atrophy | -| Orphanet:70596 | Congenital Epstein-Barr virus infection | -| Orphanet:99095 | Congenital Gerbode defect | -| Orphanet:91413 | Congenital Horner syndrome | -| Orphanet:440233 | Congenital abducens nerve palsy | -| Orphanet:294979 | Congenital absence of both forearm and hand | -| Orphanet:294981 | Congenital absence of both lower leg and foot | -| Orphanet:294977 | Congenital absence of thigh and lower leg with foot present | -| Orphanet:294975 | Congenital absence of upper arm and forearm with hand present | -| Orphanet:973 | Congenital absence/hypoplasia of fingers excluding thumb, unilateral | -| Orphanet:324353 | Congenital achiasma | -| Orphanet:418 | Congenital adrenal hyperplasia | -| Orphanet:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | -| Orphanet:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | -| Orphanet:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | -| Orphanet:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | -| Orphanet:495879 | Congenital agenesis of the scrotum | -| Orphanet:98604 | Congenital alacrima | -| Orphanet:79 | Congenital alpha2-antiplasmin deficiency | -| Orphanet:210122 | Congenital alveolar capillary dysplasia | -| Orphanet:3319 | Congenital amegakaryocytic thrombocytopenia | -| Orphanet:488586 | Congenital amyoplasia | -| Orphanet:86816 | Congenital analbuminemia | -| Orphanet:95507 | Congenital anomaly of hepatic vein | -| Orphanet:95498 | Congenital anomaly of superior vena cava | -| Orphanet:95500 | Congenital anomaly of the coronary sinus | -| Orphanet:98724 | Congenital anomaly of the great arteries | -| Orphanet:363189 | Congenital anomaly of the great veins | -| Orphanet:95499 | Congenital anomaly of the inferior vena cava | -| Orphanet:99055 | Congenital anomaly of the tricuspid valve chordae | -| Orphanet:95448 | Congenital aortic valve atresia | -| Orphanet:101043 | Congenital aortic valve dysplasia | -| Orphanet:3093 | Congenital aortic valve stenosis | -| Orphanet:2037 | Congenital aortopulmonary window | -| Orphanet:617449 | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome | -| Orphanet:98731 | Congenital arteriovenous fistula | -| Orphanet:1195 | Congenital atransferrinemia | -| Orphanet:566192 | Congenital autosomal recessive small-platelet thrombocytopenia | -| Orphanet:538101 | Congenital axonal neuropathy with encephalopathy | -| Orphanet:48 | Congenital bilateral absence of vas deferens | -| Orphanet:93177 | Congenital bilateral megacalycosis | -| Orphanet:79301 | Congenital bile acid synthesis defect type 1 | -| Orphanet:79303 | Congenital bile acid synthesis defect type 2 | -| Orphanet:79302 | Congenital bile acid synthesis defect type 3 | -| Orphanet:79095 | Congenital bile acid synthesis defect type 4 | -| Orphanet:514352 | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome | -| Orphanet:71278 | Congenital brain dysgenesis due to glutamine synthetase deficiency | -| Orphanet:289499 | Congenital cataract microcornea with corneal opacity | -| Orphanet:300313 | Congenital cataract-hearing loss-severe developmental delay syndrome | -| Orphanet:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | -| Orphanet:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | -| Orphanet:521432 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome | -| Orphanet:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | -| Orphanet:661 | Congenital central hypoventilation syndrome | -| Orphanet:512260 | Congenital cerebellar ataxia due to RNU12 mutation | -| Orphanet:831 | Congenital cervical spinal stenosis | -| Orphanet:53689 | Congenital chloride diarrhea | -| Orphanet:329242 | Congenital chronic diarrhea with protein-losing enteropathy | -| Orphanet:264688 | Congenital chylothorax | -| Orphanet:269505 | Congenital communicating hydrocephalus | -| Orphanet:99129 | Congenital complete agenesis of pericardium | -| Orphanet:115 | Congenital contractural arachnodactyly | -| Orphanet:53691 | Congenital cornea plana | -| Orphanet:95491 | Congenital coronary artery aneurysm | -| Orphanet:519384 | Congenital cystic eye | -| Orphanet:168612 | Congenital deficiency in alpha-fetoprotein | -| Orphanet:294947 | Congenital deformities of fingers | -| Orphanet:294944 | Congenital deformities of limbs | -| Orphanet:2140 | Congenital diaphragmatic hernia | -| Orphanet:137 | Congenital disorder of glycosylation | -| Orphanet:371183 | Congenital disorder of glycosylation with cardiac malformation as a major feature | -| Orphanet:371212 | Congenital disorder of glycosylation with deafness as a major feature | -| Orphanet:371235 | Congenital disorder of glycosylation with developmental anomaly | -| Orphanet:371071 | Congenital disorder of glycosylation with epilepsy as a major feature | -| Orphanet:371157 | Congenital disorder of glycosylation with hepatic involvement | -| Orphanet:371188 | Congenital disorder of glycosylation with intestinal involvement | -| Orphanet:371207 | Congenital disorder of glycosylation with nephropathy as a major feature | -| Orphanet:371047 | Congenital disorder of glycosylation with neurological involvement | -| Orphanet:371200 | Congenital disorder of glycosylation with skin involvement | -| Orphanet:371195 | Congenital disorder of glycosylation-related bone disorder | -| Orphanet:85 | Congenital dyserythropoietic anemia | -| Orphanet:98869 | Congenital dyserythropoietic anemia type I | -| Orphanet:98873 | Congenital dyserythropoietic anemia type II | -| Orphanet:98870 | Congenital dyserythropoietic anemia type III | -| Orphanet:293825 | Congenital dyserythropoietic anemia type IV | -| Orphanet:98570 | Congenital ectropion | -| Orphanet:91491 | Congenital ectropion uveae | -| Orphanet:295227 | Congenital elbow dislocation, bilateral | -| Orphanet:295225 | Congenital elbow dislocation, unilateral | -| Orphanet:103910 | Congenital enterocyte heparan sulfate deficiency | -| Orphanet:168601 | Congenital enteropathy due to enteropeptidase deficiency | -| Orphanet:292 | Congenital enterovirus infection | -| Orphanet:157826 | Congenital epulis | -| Orphanet:231573 | Congenital erosive and vesicular dermatosis | -| Orphanet:79277 | Congenital erythropoietic porphyria | -| Orphanet:91358 | Congenital esophageal diverticulum | -| Orphanet:645749 | Congenital esophageal stenosis | -| Orphanet:99176 | Congenital eyelid retraction | -| Orphanet:325 | Congenital factor II deficiency | -| Orphanet:326 | Congenital factor V deficiency | -| Orphanet:327 | Congenital factor VII deficiency | -| Orphanet:328 | Congenital factor X deficiency | -| Orphanet:329 | Congenital factor XI deficiency | -| Orphanet:330 | Congenital factor XII deficiency | -| Orphanet:331 | Congenital factor XIII deficiency | -| Orphanet:2020 | Congenital fiber-type disproportion myopathy | -| Orphanet:335 | Congenital fibrinogen deficiency | -| Orphanet:45358 | Congenital fibrosis of extraocular muscles | -| Orphanet:476406 | Congenital generalized hypercontractile muscle stiffness syndrome | -| Orphanet:1023 | Congenital generalized hypertrichosis, Ambras type | -| Orphanet:528 | Congenital generalized lipodystrophy | -| Orphanet:295232 | Congenital genu flexum | -| Orphanet:295229 | Congenital genu recurvatum | -| Orphanet:98976 | Congenital glaucoma | -| Orphanet:79299 | Congenital glucokinase-related hyperinsulinism | -| Orphanet:60041 | Congenital heart block | -| Orphanet:1355 | Congenital heart defect-round face-developmental delay syndrome | -| Orphanet:458775 | Congenital hemangioma | -| Orphanet:98975 | Congenital hereditary endothelial dystrophy type I | -| Orphanet:293603 | Congenital hereditary endothelial dystrophy type II | -| Orphanet:306530 | Congenital hereditary facial paralysis-variable hearing loss syndrome | -| Orphanet:293 | Congenital herpes simplex virus infection | -| Orphanet:483 | Congenital high-molecular-weight kininogen deficiency | -| Orphanet:2185 | Congenital hydrocephalus | -| Orphanet:263455 | Congenital hyperinsulinism due to HNF4A deficiency | -| Orphanet:174590 | Congenital hypogonadotropic hypogonadism | -| Orphanet:294988 | Congenital hypoplasia of thumb | -| Orphanet:442 | Congenital hypothyroidism | -| Orphanet:95711 | Congenital hypothyroidism due to developmental anomaly | -| Orphanet:226313 | Congenital hypothyroidism due to maternal intake of antithyroid drugs | -| Orphanet:95715 | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies | -| Orphanet:79394 | Congenital ichthyosiform erythroderma | -| Orphanet:352333 | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | -| Orphanet:2271 | Congenital ichthyosis-microcephalus-tetraplegia syndrome | -| Orphanet:583097 | Congenital infiltrating lipomatosis of the face | -| Orphanet:453510 | Congenital insensitivity to pain with severe intellectual disability | -| Orphanet:88642 | Congenital insensitivity to pain-anosmia-neuropathic arthropathy | -| Orphanet:217399 | Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation | -| Orphanet:104006 | Congenital intestinal disease due to an enzymatic defect | -| Orphanet:1229 | Congenital intrauterine infection-like syndrome | -| Orphanet:332 | Congenital intrinsic factor deficiency | -| Orphanet:199296 | Congenital isolated ACTH deficiency | -| Orphanet:657 | Congenital isolated hyperinsulinism | -| Orphanet:294951 | Congenital joint dislocations | -| Orphanet:295034 | Congenital knee dislocation | -| Orphanet:495875 | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome | -| Orphanet:53690 | Congenital lactase deficiency | -| Orphanet:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | -| Orphanet:141124 | Congenital laryngeal cyst | -| Orphanet:137932 | Congenital laryngeal palsy | -| Orphanet:2374 | Congenital laryngeal web | -| Orphanet:2373 | Congenital laryngomalacia | -| Orphanet:1055 | Congenital left ventricular aneurysm | -| Orphanet:1954 | Congenital lethal erythroderma | -| Orphanet:210163 | Congenital lethal myopathy, Compton-North type | -| Orphanet:68378 | Congenital limb malformation | -| Orphanet:562528 | Congenital limbs-face contractures-hypotonia-developmental delay syndrome | -| Orphanet:90790 | Congenital lipoid adrenal hyperplasia due to STAR deficency | -| Orphanet:1928 | Congenital lobar emphysema | -| Orphanet:2430 | Congenital macroglossia | -| Orphanet:98631 | Congenital malformation of the eye with glaucoma as a major feature | -| Orphanet:98561 | Congenital malformation of the eyelid | -| Orphanet:93109 | Congenital megacalycosis | -| Orphanet:69063 | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization | -| Orphanet:2665 | Congenital mesoblastic nephroma | -| Orphanet:391376 | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome | -| Orphanet:566 | Congenital microcoria | -| Orphanet:199293 | Congenital microgastria | -| Orphanet:2447 | Congenital mitral malformation | -| Orphanet:99057 | Congenital mitral stenosis | -| Orphanet:95464 | Congenital mitral valve insufficiency and/or stenosis | -| Orphanet:98905 | Congenital multicore myopathy with external ophthalmoplegia | -| Orphanet:352687 | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | -| Orphanet:97242 | Congenital muscular dystrophy | -| Orphanet:157973 | Congenital muscular dystrophy due to LMNA mutation | -| Orphanet:370953 | Congenital muscular dystrophy due to dystroglycanopathy | -| Orphanet:98893 | Congenital muscular dystrophy type 1B | -| Orphanet:370959 | Congenital muscular dystrophy with cerebellar involvement | -| Orphanet:371007 | Congenital muscular dystrophy with hyperlaxity | -| Orphanet:34520 | Congenital muscular dystrophy with integrin alpha-7 deficiency | -| Orphanet:370968 | Congenital muscular dystrophy with intellectual disability | -| Orphanet:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | -| Orphanet:370980 | Congenital muscular dystrophy without intellectual disability | -| Orphanet:272 | Congenital muscular dystrophy, Fukuyama type | -| Orphanet:75840 | Congenital muscular dystrophy, Ullrich type | -| Orphanet:1875 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | -| Orphanet:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | -| Orphanet:590 | Congenital myasthenic syndrome | -| Orphanet:353327 | Congenital myasthenic syndromes with glycosylation defect | -| Orphanet:97245 | Congenital myopathy | -| Orphanet:172976 | Congenital myopathy with cores | -| Orphanet:98904 | Congenital myopathy with excess of thin filaments | -| Orphanet:319160 | Congenital myopathy with internal nuclei and atypical cores | -| Orphanet:424107 | Congenital myopathy with myasthenic-like onset | -| Orphanet:544602 | Congenital myopathy with reduced type 2 muscle fibers | -| Orphanet:199329 | Congenital myopathy, Paradas type | -| Orphanet:206973 | Congenital myotonia | -| Orphanet:457074 | Congenital nemaline myopathy | -| Orphanet:839 | Congenital nephrotic syndrome, Finnish type | -| Orphanet:168486 | Congenital neuronal ceroid lipofuscinosis | -| Orphanet:369852 | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | -| Orphanet:269510 | Congenital non-communicating hydrocephalus | -| Orphanet:440221 | Congenital oculomotor nerve palsy | -| Orphanet:519333 | Congenital optic disc excavation | -| Orphanet:522514 | Congenital optic disc excavation of genetic origin | -| Orphanet:157713 | Congenital or early infantile CACH syndrome | -| Orphanet:2772 | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | -| Orphanet:313906 | Congenital pancreatic cyst | -| Orphanet:139414 | Congenital panfollicular nevus | -| Orphanet:99130 | Congenital partial agenesis of pericardium | -| Orphanet:99124 | Congenital partial pulmonary venous return anomaly | -| Orphanet:295036 | Congenital patella dislocation | -| Orphanet:99072 | Congenital patent ductus arteriosus aneurysm | -| Orphanet:2846 | Congenital pericardium anomaly | -| Orphanet:465 | Congenital plasminogen activator inhibitor type 1 deficiency | -| Orphanet:480531 | Congenital portosystemic shunt | -| Orphanet:749 | Congenital prekallikrein deficiency | -| Orphanet:83461 | Congenital primary aphakia | -| Orphanet:569821 | Congenital primary lymphedema of Gordon | -| Orphanet:617 | Congenital primary megaureter | -| Orphanet:238654 | Congenital primary megaureter, nonrefluxing and unobstructed form | -| Orphanet:238646 | Congenital primary megaureter, obstructed form | -| Orphanet:544578 | Congenital primary megaureter, refluxing and obstructed form | -| Orphanet:238650 | Congenital primary megaureter, refluxing form | -| Orphanet:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | -| Orphanet:66630 | Congenital pseudoarthrosis of the clavicle | -| Orphanet:295020 | Congenital pseudoarthrosis of the femur | -| Orphanet:295022 | Congenital pseudoarthrosis of the fibula | -| Orphanet:157808 | Congenital pseudoarthrosis of the limbs | -| Orphanet:295024 | Congenital pseudoarthrosis of the radius | -| Orphanet:295018 | Congenital pseudoarthrosis of the tibia | -| Orphanet:295026 | Congenital pseudoarthrosis of the ulna | -| Orphanet:91411 | Congenital ptosis | -| Orphanet:2444 | Congenital pulmonary airway malformation | -| Orphanet:280827 | Congenital pulmonary airway malformation type 0 | -| Orphanet:280832 | Congenital pulmonary airway malformation type 1 | -| Orphanet:280840 | Congenital pulmonary airway malformation type 2 | -| Orphanet:280847 | Congenital pulmonary airway malformation type 3 | -| Orphanet:280854 | Congenital pulmonary airway malformation type 4 | -| Orphanet:2414 | Congenital pulmonary lymphangiectasia | -| Orphanet:3161 | Congenital pulmonary sequestration | -| Orphanet:3189 | Congenital pulmonary valvar stenosis | -| Orphanet:99126 | Congenital pulmonary vein atresia | -| Orphanet:98729 | Congenital pulmonary veins anomaly | -| Orphanet:3090 | Congenital pulmonary venous return anomaly | -| Orphanet:3269 | Congenital radioulnar synostosis | -| Orphanet:97598 | Congenital renal artery stenosis | -| Orphanet:2040 | Congenital respiratory-biliary fistula | -| Orphanet:281190 | Congenital reticular ichthyosiform erythroderma | -| Orphanet:353334 | Congenital retinal arteriovenous communication | -| Orphanet:290 | Congenital rubella syndrome | -| Orphanet:238536 | Congenital secondary polycythemia | -| Orphanet:2301 | Congenital short bowel syndrome | -| Orphanet:93400 | Congenital sialidosis type 2 | -| Orphanet:369861 | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | -| Orphanet:263435 | Congenital smooth muscle hamartoma | -| Orphanet:103908 | Congenital sodium diarrhea | -| Orphanet:215 | Congenital stationary night blindness | -| Orphanet:99122 | Congenital stenosis of the inferior vena cava | -| Orphanet:101068 | Congenital stromal corneal dystrophy | -| Orphanet:141121 | Congenital subglottic stenosis | -| Orphanet:35122 | Congenital sucrase-isomaltase deficiency | -| Orphanet:99059 | Congenital supravalvular mitral ring | -| Orphanet:98948 | Congenital symblepharon | -| Orphanet:499009 | Congenital syphilis | -| Orphanet:2039 | Congenital systemic arteriovenous fistula | -| Orphanet:3091 | Congenital systemic veins anomaly | -| Orphanet:210576 | Congenital temporomandibular joint ankylosis | -| Orphanet:93583 | Congenital thrombotic thrombocytopenic purpura | -| Orphanet:95718 | Congenital thyroid malformation without hypothyroidism | -| Orphanet:99125 | Congenital total pulmonary venous return anomaly | -| Orphanet:858 | Congenital toxoplasmosis | -| Orphanet:141127 | Congenital tracheal stenosis | -| Orphanet:95430 | Congenital tracheomalacia | -| Orphanet:98721 | Congenital tricuspid malformation | -| Orphanet:95459 | Congenital tricuspid stenosis | -| Orphanet:555874 | Congenital tricuspid valve dysplasia | -| Orphanet:231013 | Congenital trigeminal anesthesia | -| Orphanet:98686 | Congenital trochlear nerve palsy | -| Orphanet:92050 | Congenital tufting enteropathy | -| Orphanet:99060 | Congenital unguarded mitral orifice | -| Orphanet:1166 | Congenital unilateral hypoplasia of depressor anguli oris | -| Orphanet:291 | Congenital varicella syndrome | -| Orphanet:235832 | Congenital vascular bone syndrome | -| Orphanet:2291 | Congenital velopharyngeal incompetence | -| Orphanet:521438 | Congenital vertebral-cardiac-renal anomalies syndrome | -| Orphanet:178382 | Congenital vertical talus | -| Orphanet:295203 | Congenital vertical talus, bilateral | -| Orphanet:295201 | Congenital vertical talus, unilateral | -| Orphanet:169826 | Congenital vitamin K-dependent coagulation factors deficiency | -| Orphanet:589821 | Congenital-onset Steinert myotonic dystrophy | -| Orphanet:216694 | Congenitally corrected transposition of the great arteries | -| Orphanet:2391 | Congenitally short costocoracoid ligament | -| Orphanet:860 | Congenitally uncorrected transposition of the great arteries | -| Orphanet:216729 | Congenitally uncorrected transposition of the great arteries with cardiac malformation | -| Orphanet:99042 | Congenitally uncorrected transposition of the great arteries with coarctation | -| Orphanet:647916 | Conjoined twins | -| Orphanet:617910 | Conjunctival malignant melanoma | -| Orphanet:300284 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | -| Orphanet:420794 | Cono-spondylar dysplasia | -| Orphanet:2445 | Conotruncal heart malformations | -| Orphanet:98360 | Constitutional anemia due to iron metabolism disorder | -| Orphanet:248296 | Constitutional deficiency anemia | -| Orphanet:293830 | Constitutional dyserythropoietic anemia | -| Orphanet:98366 | Constitutional hemolytic anemia due to acanthocytosis | -| Orphanet:98408 | Constitutional megaloblastic anemia due to folate metabolism disorder | -| Orphanet:98396 | Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder | -| Orphanet:319651 | Constitutional megaloblastic anemia with severe neurologic disease | -| Orphanet:252202 | Constitutional mismatch repair deficiency syndrome | -| Orphanet:98362 | Constitutional sideroblastic anemia | -| Orphanet:295000 | Constriction rings syndrome | -| Orphanet:725 | Continuous spikes and waves during sleep | -| Orphanet:436003 | Contractures-developmental delay-Pierre Robin syndrome | -| Orphanet:1484 | Contractures-ectodermal dysplasia-cleft lip/palate syndrome | -| Orphanet:314002 | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome | -| Orphanet:645367 | Conus spinal cord lipoma | -| Orphanet:1487 | Cooks syndrome | -| Orphanet:1488 | Cooper-Jabs syndrome | -| Orphanet:99098 | Cor triatriatum dexter | -| Orphanet:99099 | Cor triatriatum sinister | -| Orphanet:98990 | Coralliform cataract | -| Orphanet:34533 | Corneal dystrophy | -| Orphanet:1490 | Corneal dystrophy-perceptive deafness syndrome | -| Orphanet:137602 | Corneal endotheliitis | -| Orphanet:352662 | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | -| Orphanet:199 | Cornelia de Lange syndrome | -| Orphanet:3194 | Corneodermatoosseous syndrome | -| Orphanet:98635 | Corneodysgenesis | -| Orphanet:2041 | Coronary arterial fistula | -| Orphanet:1081 | Coronary artery congenital malformation | -| Orphanet:99087 | Coronary ostial stenosis or atresia | -| Orphanet:99118 | Coronary sinus atresia | -| Orphanet:99117 | Coronary sinus stenosis | -| Orphanet:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | -| Orphanet:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | -| Orphanet:459074 | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome | -| Orphanet:1496 | Corpus callosum agenesis-neuronopathy syndrome | -| Orphanet:1389 | Cortical blindness-intellectual disability-polydactyly syndrome | -| Orphanet:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | -| Orphanet:454887 | Corticobasal syndrome | -| Orphanet:199247 | Corticosteroid-binding globulin deficiency | -| Orphanet:54251 | Corticosteroid-sensitive aseptic abscess syndrome | -| Orphanet:3071 | Costello syndrome | -| Orphanet:201 | Cowden syndrome | -| Orphanet:1508 | Coxoauricular syndrome | -| Orphanet:1509 | Coxopodopatellar syndrome | -| Orphanet:581271 | Cramp-fasciculation syndrome | -| Orphanet:202 | Crandall syndrome | -| Orphanet:1512 | Crane-Heise syndrome | -| Orphanet:98038 | Cranial malformation | -| Orphanet:268820 | Cranial meningocele | -| Orphanet:98518 | Cranial nerve and nuclear aplasia | -| Orphanet:221109 | Cranial neuralgia | -| Orphanet:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | -| Orphanet:1525 | Cranio-osteoarthropathy | -| Orphanet:1513 | Craniodiaphyseal dysplasia | -| Orphanet:1514 | Craniodigital-intellectual disability syndrome | -| Orphanet:1515 | Cranioectodermal dysplasia | -| Orphanet:98650 | Craniofacial anomaly with cataract | -| Orphanet:85168 | Craniofacial conodysplasia | -| Orphanet:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | -| Orphanet:1529 | Craniofacial-deafness-hand syndrome | -| Orphanet:363705 | Craniofaciofrontodigital syndrome | -| Orphanet:1520 | Craniofrontonasal dysplasia | -| Orphanet:1521 | Craniofrontonasal dysplasia-Poland anomaly syndrome | -| Orphanet:50814 | Craniolenticulosutural dysplasia | -| Orphanet:85184 | Craniometadiaphyseal dysplasia, wormian bone type | -| Orphanet:1522 | Craniometaphyseal dysplasia | -| Orphanet:1524 | Craniomicromelic syndrome | -| Orphanet:54595 | Craniopharyngioma | -| Orphanet:63260 | Craniorachischisis | -| Orphanet:157832 | Craniorhiny | -| Orphanet:98684 | Craniostenosis with strabismus | -| Orphanet:1531 | Craniosynostosis | -| Orphanet:1541 | Craniosynostosis, Boston type | -| Orphanet:2145 | Craniosynostosis, Herrmann-Opitz type | -| Orphanet:1527 | Craniosynostosis, Philadelphia type | -| Orphanet:1538 | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | -| Orphanet:85199 | Craniosynostosis-anal anomalies-porokeratosis syndrome | -| Orphanet:284149 | Craniosynostosis-dental anomalies | -| Orphanet:647681 | Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome | -| Orphanet:171839 | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | -| Orphanet:52054 | Craniosynostosis-intracranial calcifications syndrome | -| Orphanet:565858 | Craniosynostosis-microretrognathia-severe intellectual disability syndrome | -| Orphanet:1528 | Craniotelencephalic dysplasia | -| Orphanet:79172 | Creatine deficiency syndrome | -| Orphanet:99854 | Cree leukoencephalopathy | -| Orphanet:504 | Creeping myiasis | -| Orphanet:205 | Crigler-Najjar syndrome | -| Orphanet:79234 | Crigler-Najjar syndrome type 1 | -| Orphanet:79235 | Crigler-Najjar syndrome type 2 | -| Orphanet:99827 | Crimean-Congo hemorrhagic fever | -| Orphanet:1545 | Crisponi syndrome | -| Orphanet:1461 | Criss-cross heart | -| Orphanet:2930 | Cronkhite-Canada syndrome | -| Orphanet:2935 | Crossed polysyndactyly | -| Orphanet:207 | Crouzon syndrome | -| Orphanet:93262 | Crouzon syndrome-acanthosis nigricans syndrome | -| Orphanet:91138 | Cryoglobulinemic vasculitis | -| Orphanet:208650 | Cryopyrin-associated periodic syndrome | -| Orphanet:1546 | Cryptococcosis | -| Orphanet:163708 | Cryptogenic late-onset epileptic spasms | -| Orphanet:468635 | Cryptogenic multifocal ulcerous stenosing enteritis | -| Orphanet:1302 | Cryptogenic organizing pneumonia | -| Orphanet:1547 | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome | -| Orphanet:98562 | Cryptophthalmia | -| Orphanet:1548 | Cryptorchidism-arachnodactyly-intellectual disability syndrome | -| Orphanet:307766 | Curly hair-acral keratoderma-caries syndrome | -| Orphanet:1552 | Currarino syndrome | -| Orphanet:1553 | Curry-Jones syndrome | -| Orphanet:96253 | Cushing disease | -| Orphanet:189427 | Cushing syndrome due to bilateral macronodular adrenocortical disease | -| Orphanet:642788 | Cushing syndrome due to cortisol-producing adrenocortical adenoma | -| Orphanet:99889 | Cushing syndrome due to ectopic ACTH secretion | -| Orphanet:280779 | Cutaneous collagenous vasculopathy | -| Orphanet:423717 | Cutaneous larva migrans | -| Orphanet:79455 | Cutaneous mastocytoma | -| Orphanet:66646 | Cutaneous mastocytosis | -| Orphanet:99983 | Cutaneous myiasis | -| Orphanet:79140 | Cutaneous neuroendocrine carcinoma | -| Orphanet:2881 | Cutaneous photosensitivity-lethal colitis syndrome | -| Orphanet:439729 | Cutaneous polyarteritis nodosa | -| Orphanet:451607 | Cutaneous pseudolymphoma | -| Orphanet:889 | Cutaneous small vessel vasculitis | -| Orphanet:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | -| Orphanet:209 | Cutis laxa | -| Orphanet:221145 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | -| Orphanet:171719 | Cutis laxa-Marfanoid syndrome | -| Orphanet:1556 | Cutis marmorata telangiectatica congenita | -| Orphanet:466670 | Cyanide poisoning | -| Orphanet:306692 | Cyanide-induced parkinsonism-dystonia | -| Orphanet:2686 | Cyclic neutropenia | -| Orphanet:210 | Cyclosporiasis | -| Orphanet:171886 | Cylindrical spirals myopathy | -| Orphanet:2674 | Cyprus facial-neuromusculoskeletal syndrome | -| Orphanet:206470 | Cystadenoma of childhood | -| Orphanet:212 | Cystathioninuria | -| Orphanet:400 | Cystic echinococcosis | -| Orphanet:586 | Cystic fibrosis | -| Orphanet:2575 | Cystic fibrosis-gastritis-megaloblastic anemia syndrome | -| Orphanet:2111 | Cystic hamartoma of lung and kidney | -| Orphanet:85136 | Cystic leukoencephalopathy without megalencephaly | -| Orphanet:1560 | Cysticercosis | -| Orphanet:213 | Cystinosis | -| Orphanet:214 | Cystinuria | -| Orphanet:93612 | Cystinuria type A | -| Orphanet:93613 | Cystinuria type B | -| Orphanet:75381 | Cystoid macular dystrophy | -| Orphanet:155835 | Cysts and fistulae of the face and oral cavity | -| Orphanet:94087 | Cytophagic histiocytic panniculitis | -| Orphanet:477787 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | -| Orphanet:2437 | Czeizel-Losonci syndrome | -| Orphanet:356978 | D,L-2-hydroxyglutaric aciduria | -| Orphanet:79315 | D-2-hydroxyglutaric aciduria | -| Orphanet:941 | D-glyceric aciduria | -| Orphanet:300536 | DDOST-CDG | -| Orphanet:488647 | DDX41-related hematologic malignancy predisposition syndrome | -| Orphanet:79134 | DEND syndrome | -| Orphanet:494444 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | -| Orphanet:284343 | DICER1 tumor-predisposition syndrome | -| Orphanet:404546 | DITRA | -| Orphanet:91131 | DK1-CDG | -| Orphanet:352470 | DNA2-related mitochondrial DNA deletion syndrome | -| Orphanet:443950 | DNAJB2-related Charcot-Marie-Tooth disease type 2 | -| Orphanet:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | -| Orphanet:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | -| Orphanet:447737 | DOCK2 deficiency | -| Orphanet:572761 | DONSON-related microcephaly-short stature-limb abnormalities spectrum | -| Orphanet:79500 | DOORS syndrome | -| Orphanet:86309 | DPAGT1-CDG | -| Orphanet:79322 | DPM1-CDG | -| Orphanet:263494 | DPM3-CDG | -| Orphanet:209341 | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy | -| Orphanet:464306 | DYRK1A-related intellectual disability syndrome | -| Orphanet:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | -| Orphanet:1562 | Dacryocystitis-osteopoikilosis syndrome | -| Orphanet:1563 | Dahlberg-Borer-Newcomer syndrome | -| Orphanet:1566 | Dandy-Walker malformation-postaxial polydactyly syndrome | -| Orphanet:218 | Darier disease | -| Orphanet:2962 | De Barsy syndrome | -| Orphanet:3214 | Deaf blind hypopigmentation syndrome, Yemenite type | -| Orphanet:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | -| Orphanet:3241 | Deafness-craniofacial syndrome | -| Orphanet:3232 | Deafness-ear malformation-facial palsy syndrome | -| Orphanet:3220 | Deafness-enamel hypoplasia-nail defects syndrome | -| Orphanet:254898 | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | -| Orphanet:3218 | Deafness-epiphyseal dysplasia-short stature syndrome | -| Orphanet:3224 | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome | -| Orphanet:90646 | Deafness-hypogonadism syndrome | -| Orphanet:94064 | Deafness-infertility syndrome | -| Orphanet:85321 | Deafness-intellectual disability syndrome, Martin-Probst type | -| Orphanet:3226 | Deafness-lymphedema-leukemia syndrome | -| Orphanet:3230 | Deafness-oligodontia syndrome | -| Orphanet:3231 | Deafness-onychodystrophy syndrome | -| Orphanet:3217 | Deafness-small bowel diverticulosis-neuropathy syndrome | -| Orphanet:3239 | Deafness-vitiligo-achalasia syndrome | -| Orphanet:99970 | Dedifferentiated liposarcoma | -| Orphanet:397587 | Deep dermatophytosis | -| Orphanet:309778 | Defect in V-ATPase | -| Orphanet:309568 | Defect in conserved oligomeric Golgi complex | -| Orphanet:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | -| Orphanet:180173 | Deficient breast volume or number | -| Orphanet:3202 | Dehydrated hereditary stomatocytosis | -| Orphanet:64748 | Dejerine-Sottas syndrome | -| Orphanet:306686 | Delayed encephalopathy due to carbon monoxide poisoning | -| Orphanet:3034 | Delayed membranous cranial ossification | -| Orphanet:3038 | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome | -| Orphanet:1627 | Deletion 5q35 | -| Orphanet:231237 | Delta-beta-thalassemia | -| Orphanet:219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | -| Orphanet:97353 | Dementia pugilistica | -| Orphanet:283 | Demodicidosis | -| Orphanet:476116 | Demyelinating hereditary motor and sensory neuropathy | -| Orphanet:86903 | Dendritic cell sarcoma not otherwise specified | -| Orphanet:99828 | Dengue fever | -| Orphanet:93571 | Dense deposit disease | -| Orphanet:98456 | Dense granule disease | -| Orphanet:1652 | Dent disease | -| Orphanet:93622 | Dent disease type 1 | -| Orphanet:93623 | Dent disease type 2 | -| Orphanet:1077 | Dental ankylosis | -| Orphanet:101 | Dentatorubral pallidoluysian atrophy | -| Orphanet:1653 | Dentin dysplasia | -| Orphanet:99789 | Dentin dysplasia type I | -| Orphanet:99791 | Dentin dysplasia type II | -| Orphanet:99792 | Dentin dysplasia-sclerotic bones syndrome | -| Orphanet:49042 | Dentinogenesis imperfecta | -| Orphanet:166260 | Dentinogenesis imperfecta type 2 | -| Orphanet:166265 | Dentinogenesis imperfecta type 3 | -| Orphanet:71267 | Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome | -| Orphanet:98649 | Dentocutaneous disease with cataract | -| Orphanet:220 | Denys-Drash syndrome | -| Orphanet:1656 | Dermatitis herpetiformis | -| Orphanet:31112 | Dermatofibrosarcoma protuberans | -| Orphanet:1659 | Dermatoleukodystrophy | -| Orphanet:221 | Dermatomyositis | -| Orphanet:1657 | Dermatoosteolysis, Kirghizian type | -| Orphanet:86920 | Dermatopathia pigmentosa reticularis | -| Orphanet:1901 | Dermatosparaxis Ehlers-Danlos syndrome | -| Orphanet:79377 | Dermis disorder | -| Orphanet:79378 | Dermis elastic tissue disorder | -| Orphanet:79149 | Dermochondrocorneal dystrophy | -| Orphanet:530033 | Dermoid or epidermoid cyst of the central nervous system | -| Orphanet:1660 | Dermoodontodysplasia | -| Orphanet:99688 | Dermotrichic syndrome | -| Orphanet:1425 | Desbuquois syndrome | -| Orphanet:84132 | Desmin-related myopathy with Mallory body-like inclusions | -| Orphanet:98909 | Desminopathy | -| Orphanet:873 | Desmoid tumor | -| Orphanet:251940 | Desmoplastic infantile astrocytoma/ganglioglioma | -| Orphanet:83469 | Desmoplastic small round cell tumor | -| Orphanet:251863 | Desmoplastic/nodular medulloblastoma | -| Orphanet:35107 | Desmosterolosis | -| Orphanet:98852 | Desquamative interstitial pneumonia | -| Orphanet:313892 | Developmental and speech delay due to SOX5 deficiency | -| Orphanet:139009 | Developmental anomaly of metabolic origin | -| Orphanet:98553 | Developmental defect of the eye | -| Orphanet:289307 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | -| Orphanet:329195 | Developmental delay with autism spectrum disorder and gait instability | -| Orphanet:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | -| Orphanet:619979 | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome | -| Orphanet:79107 | Developmental malformations-deafness-dystonia syndrome | -| Orphanet:1666 | Dextrocardia | -| Orphanet:1926 | Diabetic embryopathy | -| Orphanet:124 | Diamond-Blackfan anemia | -| Orphanet:275523 | Dianzani autoimmune lymphoproliferative disease | -| Orphanet:66637 | Diaphanospondylodysostosis | -| Orphanet:2141 | Diaphragmatic defect-limb deficiency-skull defect syndrome | -| Orphanet:527468 | Diaphragmatic hernia-short bowel-asplenia syndrome | -| Orphanet:98043 | Diaphragmatic or abdominal wall malformation | -| Orphanet:85182 | Diaphyseal medullary stenosis-bone malignancy syndrome | -| Orphanet:628 | Diastrophic dysplasia | -| Orphanet:165988 | Diazoxide-resistant diffuse hyperinsulinism | -| Orphanet:79298 | Diazoxide-resistant focal hyperinsulinism | -| Orphanet:276603 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | -| Orphanet:276598 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | -| Orphanet:276585 | Diazoxide-resistant hyperinsulinism | -| Orphanet:165985 | Diazoxide-sensitive diffuse hyperinsulinism | -| Orphanet:2195 | Dicarboxylic aminoaciduria | -| Orphanet:180086 | Didelphys uterus | -| Orphanet:370046 | Didymosis aplasticosebacea | -| Orphanet:1672 | Diencephalic syndrome | -| Orphanet:319192 | Diencephalic-mesencephalic junction dysplasia | -| Orphanet:139507 | Dietary iron overload disease | -| Orphanet:1916 | Diethylstilbestrol syndrome | -| Orphanet:90771 | Difference of sex development | -| Orphanet:325620 | Difference of sex development of gynecological interest | -| Orphanet:2983 | Difference of sex development-intellectual disability syndrome | -| Orphanet:146 | Differentiated thyroid carcinoma | -| Orphanet:90060 | Diffuse alveolar hemorrhage | -| Orphanet:251595 | Diffuse astrocytoma | -| Orphanet:404437 | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome | -| Orphanet:79456 | Diffuse cutaneous mastocytosis | -| Orphanet:220393 | Diffuse cutaneous systemic sclerosis | -| Orphanet:617916 | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia | -| Orphanet:497188 | Diffuse intrinsic pontine glioma | -| Orphanet:300849 | Diffuse large B-cell lymphoma of the central nervous system | -| Orphanet:300888 | Diffuse large B-cell lymphoma with chronic inflammation | -| Orphanet:252031 | Diffuse leptomeningeal melanocytosis | -| Orphanet:141209 | Diffuse lymphatic malformation | -| Orphanet:2123 | Diffuse neonatal hemangiomatosis | -| Orphanet:307141 | Diffuse palmoplantar keratoderma | -| Orphanet:369999 | Diffuse palmoplantar keratoderma with painful fissures | -| Orphanet:86918 | Diffuse palmoplantar keratoderma-acrocyanosis syndrome | -| Orphanet:171700 | Diffuse panbronchiolitis | -| Orphanet:648581 | Digenic hemochromatosis | -| Orphanet:238 | Digestive duplication | -| Orphanet:141071 | Digestive duplication cyst of the tongue | -| Orphanet:98039 | Digestive tract malformation | -| Orphanet:2926 | Digital extensor muscle aplasia-polyneuropathy | -| Orphanet:31828 | Digitalis poisoning | -| Orphanet:226 | Dihydropteridine reductase deficiency | -| Orphanet:1675 | Dihydropyrimidine dehydrogenase deficiency | -| Orphanet:38874 | Dihydropyrimidinuria | -| Orphanet:217604 | Dilated cardiomyopathy | -| Orphanet:66634 | Dilated cardiomyopathy with ataxia | -| Orphanet:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | -| Orphanet:243343 | Dimethylglycine dehydrogenase deficiency | -| Orphanet:227 | Diphallia | -| Orphanet:1679 | Diphtheria | -| Orphanet:128 | Diphyllobothriasis | -| Orphanet:1681 | Diprosopus | -| Orphanet:166291 | Dirofilariasis | -| Orphanet:90281 | Discoid lupus erythematosus | -| Orphanet:99052 | Discrete fibromuscular subaortic stenosis | -| Orphanet:99051 | Discrete fixed membranous subaortic stenosis | -| Orphanet:90394 | Discrete papular lichen myxedematosus | -| Orphanet:95495 | Disease associated with non-acquired combined pituitary hormone deficiency | -| Orphanet:307711 | Disease with diffuse palmoplantar keratoderma as a major feature | -| Orphanet:307871 | Disease with focal palmoplantar keratoderma as a major feature | -| Orphanet:308023 | Disease with punctate palmoplantar keratoderma as a major feature | -| Orphanet:2412 | Dislocation of the hip-dysmorphism syndrome | -| Orphanet:309458 | Disorder of O-N-acetylgalactosaminylglycan synthesis | -| Orphanet:309469 | Disorder of O-mannosylglycan synthesis | -| Orphanet:309463 | Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | -| Orphanet:309450 | Disorder of O-xylosylglycan synthesis | -| Orphanet:79166 | Disorder of amino acid absorption and transport | -| Orphanet:79062 | Disorder of amino acid and other organic acid metabolism | -| Orphanet:391381 | Disorder of asparagine metabolism | -| Orphanet:308407 | Disorder of beta and omega amino acid metabolism | -| Orphanet:79168 | Disorder of bile acid synthesis | -| Orphanet:309816 | Disorder of bilirubin metabolism and excretion | -| Orphanet:79214 | Disorder of biogenic amine metabolism and transport | -| Orphanet:79197 | Disorder of branched-chain amino acid metabolism | -| Orphanet:309001 | Disorder of carbohydrate absorption and transport | -| Orphanet:79161 | Disorder of carbohydrate metabolism | -| Orphanet:309130 | Disorder of carnitine cycle and carnitine transport | -| Orphanet:309830 | Disorder of catecholamine synthesis | -| Orphanet:79171 | Disorder of cobalamin metabolism and transport | -| Orphanet:309839 | Disorder of copper metabolism | -| Orphanet:79200 | Disorder of energy metabolism | -| Orphanet:309115 | Disorder of fatty acid oxidation and ketogenesis | -| Orphanet:79174 | Disorder of fatty acid oxidation and ketone body metabolism | -| Orphanet:285657 | Disorder of folate metabolism and transport | -| Orphanet:308463 | Disorder of fructose metabolism | -| Orphanet:309505 | Disorder of fucoglycosan synthesis | -| Orphanet:308467 | Disorder of galactose metabolism | -| Orphanet:79175 | Disorder of gamma-aminobutyric acid metabolism | -| Orphanet:289841 | Disorder of glutamine metabolism | -| Orphanet:79179 | Disorder of glycerol metabolism | -| Orphanet:308459 | Disorder of glycolysis | -| Orphanet:309515 | Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | -| Orphanet:308998 | Disorder of glyoxylate metabolism | -| Orphanet:79181 | Disorder of histidine metabolism | -| Orphanet:309842 | Disorder of iron metabolism and transport | -| Orphanet:79183 | Disorder of ketolysis | -| Orphanet:438072 | Disorder of keton body transport | -| Orphanet:309028 | Disorder of lipid absorption and transport | -| Orphanet:309005 | Disorder of lipid metabolism | -| Orphanet:289832 | Disorder of lysine and hydroxylysine metabolism | -| Orphanet:79207 | Disorder of lysosomal amino acid transport | -| Orphanet:309340 | Disorder of lysosomal-related organelles | -| Orphanet:309848 | Disorder of magnesium transport | -| Orphanet:309851 | Disorder of manganese transport | -| Orphanet:352728 | Disorder of melanin metabolism | -| Orphanet:309824 | Disorder of metabolite absorption and transport | -| Orphanet:79173 | Disorder of methionine cycle and sulfur amino acid metabolism | -| Orphanet:309836 | Disorder of mineral absorption and transport | -| Orphanet:309526 | Disorder of multiple glycosylation | -| Orphanet:79169 | Disorder of neurotransmitter metabolism and transport | -| Orphanet:308451 | Disorder of neutral amino acid transport | -| Orphanet:289869 | Disorder of ornithine metabolism | -| Orphanet:79185 | Disorder of ornithine or proline metabolism | -| Orphanet:309833 | Disorder of other vitamins and cofactors metabolism and transport | -| Orphanet:79186 | Disorder of pentose phosphate metabolism | -| Orphanet:79187 | Disorder of peptide metabolism | -| Orphanet:79190 | Disorder of phenylalanin or tyrosine metabolism | -| Orphanet:284814 | Disorder of phenylalanine metabolism | -| Orphanet:352301 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis | -| Orphanet:352306 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement | -| Orphanet:352309 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement | -| Orphanet:352312 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement | -| Orphanet:3276 | Disorder of plasmalogens biosynthesis | -| Orphanet:309813 | Disorder of porphyrin and heme metabolism | -| Orphanet:289866 | Disorder of proline metabolism | -| Orphanet:309347 | Disorder of protein N-glycosylation | -| Orphanet:309447 | Disorder of protein O-glycosylation | -| Orphanet:309819 | Disorder of pterin metabolism | -| Orphanet:79191 | Disorder of purine metabolism | -| Orphanet:79224 | Disorder of purine or pyrimidine metabolism | -| Orphanet:79192 | Disorder of pyridoxine metabolism | -| Orphanet:79193 | Disorder of pyrimidine metabolism | -| Orphanet:79194 | Disorder of serine or glycine metabolism | -| Orphanet:309319 | Disorder of sialic acid metabolism | -| Orphanet:79196 | Disorder of the gamma-glutamyl cycle | -| Orphanet:298644 | Disorder of thiamine metabolism and transport | -| Orphanet:289829 | Disorder of tryptophan metabolism | -| Orphanet:284818 | Disorder of tyrosine metabolism | -| Orphanet:79167 | Disorder of urea cycle metabolism and ammonia detoxification | -| Orphanet:309827 | Disorder of vitamin and non-protein cofactor absorption and transport | -| Orphanet:309845 | Disorder of zinc metabolism and transport | -| Orphanet:568047 | Disorder with multisystemic involvement and primary lymphedema | -| Orphanet:519337 | Disorder with optic nerve compression | -| Orphanet:440701 | Disorders of pentose/polyol metabolism | -| Orphanet:289098 | Disorders of vitamin D metabolism | -| Orphanet:345 | Dissecting cellulitis of the scalp | -| Orphanet:71274 | Disseminated peritoneal leiomyomatosis | -| Orphanet:79152 | Disseminated superficial actinic porokeratosis | -| Orphanet:261222 | Distal 16p11.2 microdeletion syndrome | -| Orphanet:319171 | Distal 17p13.1 microdeletion syndrome | -| Orphanet:261257 | Distal 17p13.3 microdeletion syndrome | -| Orphanet:261330 | Distal 22q11.2 microdeletion syndrome | -| Orphanet:261337 | Distal 22q11.2 microduplication syndrome | -| Orphanet:254351 | Distal 7q11.23 microdeletion syndrome | -| Orphanet:261102 | Distal 7q11.23 microduplication syndrome | -| Orphanet:293939 | Distal Xq28 microduplication syndrome | -| Orphanet:399096 | Distal anoctaminopathy | -| Orphanet:97120 | Distal arthrogryposis | -| Orphanet:1146 | Distal arthrogryposis type 1 | -| Orphanet:251515 | Distal arthrogryposis type 10 | -| Orphanet:329457 | Distal arthrogryposis type 5D | -| Orphanet:1580 | Distal deletion 10p | -| Orphanet:96148 | Distal deletion 10q | -| Orphanet:280325 | Distal deletion 12p | -| Orphanet:96149 | Distal deletion 12q | -| Orphanet:1590 | Distal deletion 13q | -| Orphanet:96150 | Distal deletion 14q | -| Orphanet:1596 | Distal deletion 15q | -| Orphanet:1597 | Distal deletion 17q | -| Orphanet:96129 | Distal deletion 19p | -| Orphanet:36367 | Distal deletion 1q | -| Orphanet:1620 | Distal deletion 3p | -| Orphanet:96145 | Distal deletion 4q | -| Orphanet:96125 | Distal deletion 6p | -| Orphanet:96126 | Distal deletion 7p | -| Orphanet:1642 | Distal deletion 9p | -| Orphanet:96102 | Distal duplication 10q | -| Orphanet:96103 | Distal duplication 11q | -| Orphanet:96105 | Distal duplication 13q | -| Orphanet:1705 | Distal duplication 14q | -| Orphanet:1707 | Distal duplication 15q | -| Orphanet:96106 | Distal duplication 16q | -| Orphanet:3379 | Distal duplication 17q | -| Orphanet:1716 | Distal duplication 18q | -| Orphanet:1717 | Distal duplication 19q | -| Orphanet:96069 | Distal duplication 1p36 | -| Orphanet:96107 | Distal duplication 20q | -| Orphanet:96109 | Distal duplication 22q | -| Orphanet:96070 | Distal duplication 2p | -| Orphanet:96094 | Distal duplication 2q | -| Orphanet:96071 | Distal duplication 3p | -| Orphanet:96096 | Distal duplication 4q | -| Orphanet:96097 | Distal duplication 5q | -| Orphanet:1745 | Distal duplication 6p | -| Orphanet:96098 | Distal duplication 6q | -| Orphanet:96074 | Distal duplication 7p | -| Orphanet:96100 | Distal duplication 8q | -| Orphanet:96101 | Distal duplication 9q | -| Orphanet:53739 | Distal hereditary motor neuropathy | -| Orphanet:139518 | Distal hereditary motor neuropathy type 1 | -| Orphanet:139525 | Distal hereditary motor neuropathy type 2 | -| Orphanet:139536 | Distal hereditary motor neuropathy type 5 | -| Orphanet:139589 | Distal hereditary motor neuropathy type 7 | -| Orphanet:139552 | Distal hereditary motor neuropathy, Jerash type | -| Orphanet:1307 | Distal limb deficiencies-micrognathia syndrome | -| Orphanet:1636 | Distal monosomy 7q36 | -| Orphanet:599 | Distal myopathy | -| Orphanet:178400 | Distal myopathy with anterior tibial onset | -| Orphanet:63273 | Distal myopathy with posterior leg and anterior hand involvement | -| Orphanet:488650 | Distal myopathy, Tateyama type | -| Orphanet:603 | Distal myopathy, Welander type | -| Orphanet:98911 | Distal myotilinopathy | -| Orphanet:399103 | Distal nebulin myopathy | -| Orphanet:18 | Distal renal tubular acidosis | -| Orphanet:93610 | Distal renal tubular acidosis with anemia | -| Orphanet:139547 | Distal spinal muscular atrophy type 3 | -| Orphanet:3248 | Distal symphalangism | -| Orphanet:314588 | Distal triplication 15q | -| Orphanet:1685 | Distomatosis | -| Orphanet:3262 | Dobrow syndrome | -| Orphanet:231226 | Dominant beta-thalassemia | -| Orphanet:244305 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis | -| Orphanet:2143 | Donnai-Barrow syndrome | -| Orphanet:255 | Dopa-responsive dystonia | -| Orphanet:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | -| Orphanet:230 | Dopamine beta-hydroxylase deficiency | -| Orphanet:645362 | Dorsal spinal cord lipoma | -| Orphanet:3427 | Double outlet left ventricle | -| Orphanet:3426 | Double outlet right ventricle | -| Orphanet:423712 | Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy | -| Orphanet:99046 | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect | -| Orphanet:423693 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect | -| Orphanet:99043 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis | -| Orphanet:99045 | Double outlet right ventricle with subpulmonary ventricular septal defect | -| Orphanet:3411 | Double uterus-hemivagina-renal agenesis syndrome | -| Orphanet:95474 | Double-orifice mitral valve | -| Orphanet:79145 | Dowling-Degos disease | -| Orphanet:870 | Down syndrome | -| Orphanet:231 | Dracunculiasis | -| Orphanet:33069 | Dravet syndrome | -| Orphanet:264978 | Drug or radiation exposure-related interstitial lung disease | -| Orphanet:139402 | Drug reaction with eosinophilia and systemic symptoms | -| Orphanet:90037 | Drug-induced autoimmune hemolytic anemia | -| Orphanet:90157 | Drug-induced localized lipodystrophy | -| Orphanet:231111 | Drug-induced lupus erythematosus | -| Orphanet:251325 | Drug-induced vasculitis | -| Orphanet:97368 | Drug-related renal tubular dysgenesis | -| Orphanet:50817 | Duane anomaly-myopathy-scoliosis syndrome | -| Orphanet:233 | Duane retraction syndrome | -| Orphanet:529574 | Duane retraction syndrome with congenital deafness | -| Orphanet:234 | Dubin-Johnson syndrome | -| Orphanet:235 | Dubowitz syndrome | -| Orphanet:98896 | Duchenne muscular dystrophy | -| Orphanet:1203 | Duodenal atresia | -| Orphanet:91357 | Duplication of the esophagus | -| Orphanet:314621 | Duplication of the pituitary gland | -| Orphanet:237 | Duplication of urethra | -| Orphanet:97339 | Dural sinus malformation | -| Orphanet:239 | Dyggve-Melchior-Clausen disease | -| Orphanet:412 | Dysbetalipoproteinemia | -| Orphanet:1765 | Dyschondrosteosis-nephritis syndrome | -| Orphanet:41 | Dyschromatosis symmetrica hereditaria | -| Orphanet:241 | Dyschromatosis universalis hereditaria | -| Orphanet:251946 | Dysembryoplastic neuroepithelial tumor | -| Orphanet:1766 | Dysequilibrium syndrome | -| Orphanet:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | -| Orphanet:1775 | Dyskeratosis congenita | -| Orphanet:1779 | Dysmorphism-cleft palate-loose skin syndrome | -| Orphanet:289553 | Dysmorphism-conductive hearing loss-heart defect syndrome | -| Orphanet:2104 | Dysmorphism-pectus carinatum-joint laxity syndrome | -| Orphanet:2282 | Dysmorphism-short stature-deafness-difference of sex development syndrome | -| Orphanet:1782 | Dysosteosclerosis | -| Orphanet:364559 | Dysostosis | -| Orphanet:404568 | Dysostosis of genetic origin | -| Orphanet:404571 | Dysostosis of genetic origin with limb anomaly as a major feature | -| Orphanet:69028 | Dysostosis with brachydactyly | -| Orphanet:498454 | Dysostosis with brachydactyly with extraskeletal manifestations | -| Orphanet:498451 | Dysostosis with brachydactyly without extraskeletal manifestations | -| Orphanet:294957 | Dysostosis with combined reduction defects of upper and lower limbs | -| Orphanet:364571 | Dysostosis with limb and face anomalies as a major feature | -| Orphanet:364568 | Dysostosis with limb anomaly as a major feature | -| Orphanet:93453 | Dysostosis with predominant craniofacial involvement | -| Orphanet:93454 | Dysostosis with predominant vertebral and costal involvement | -| Orphanet:1798 | Dysostosis, Stanescu type | -| Orphanet:99082 | Dysphagia lusoria | -| Orphanet:1822 | Dysplasia epiphysealis hemimelica | -| Orphanet:168621 | Dysplasia of head of femur, Meyer type | -| Orphanet:646139 | Dysplastic cortical hyperostosis | -| Orphanet:646136 | Dysplastic cortical hyperostosis, Al-Gazali type | -| Orphanet:2204 | Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type | -| Orphanet:645273 | Dysraphic spinal cord lipoma | -| Orphanet:645193 | Dysraphism with stalk | -| Orphanet:2476 | Dysraphism-cleft lip/palate-limb reduction defects syndrome | -| Orphanet:156731 | Dyssegmental dysplasia, Rolland-Desbuquois type | -| Orphanet:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | -| Orphanet:85198 | Dysspondyloenchondromatosis | -| Orphanet:210571 | Dystonia 16 | -| Orphanet:589618 | Dystonia 28 | -| Orphanet:412217 | Dystonia-aphonia syndrome | -| Orphanet:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | -| Orphanet:303 | Dystrophic epidermolysis bullosa | -| Orphanet:89843 | Dystrophic epidermolysis bullosa pruriginosa | -| Orphanet:199343 | EAST syndrome | -| Orphanet:293936 | EDICT syndrome | -| Orphanet:1896 | EEC syndrome | -| Orphanet:98609 | EEC syndrome and related disorders | -| Orphanet:1897 | EEM syndrome | -| Orphanet:620368 | EGF-related primary hypomagnesemia with intellectual disability | -| Orphanet:485418 | EMILIN-1-related connective tissue disease | -| Orphanet:611223 | EN1-related dorsoventral syndrome | -| Orphanet:568065 | EPHB4-related lymphatic-related hydrops fetalis | -| Orphanet:496751 | EVEN-plus syndrome | -| Orphanet:40923 | Eales disease | -| Orphanet:2554 | Ear-patella-short stature syndrome | -| Orphanet:1934 | Early infantile epileptic encephalopathy | -| Orphanet:1935 | Early myoclonic encephalopathy | -| Orphanet:324290 | Early-onset Lafora body disease | -| Orphanet:98890 | Early-onset X-linked optic atrophy | -| Orphanet:98988 | Early-onset anterior polar cataract | -| Orphanet:98539 | Early-onset ataxia with dementia | -| Orphanet:619948 | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome | -| Orphanet:1020 | Early-onset autosomal dominant Alzheimer disease | -| Orphanet:556985 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | -| Orphanet:1177 | Early-onset cerebellar ataxia with retained tendon reflexes | -| Orphanet:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | -| Orphanet:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | -| Orphanet:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | -| Orphanet:556030 | Early-onset familial hypoaldosteronism | -| Orphanet:256 | Early-onset generalized limb-onset dystonia | -| Orphanet:441452 | Early-onset lamellar cataract | -| Orphanet:289377 | Early-onset myopathy with fatal cardiomyopathy | -| Orphanet:439212 | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | -| Orphanet:91492 | Early-onset non-syndromic cataract | -| Orphanet:98991 | Early-onset nuclear cataract | -| Orphanet:99704 | Early-onset obesity-hyperphagia-severe developmental delay syndrome | -| Orphanet:2379 | Early-onset parkinsonism-intellectual disability syndrome | -| Orphanet:98992 | Early-onset partial cataract | -| Orphanet:98993 | Early-onset posterior polar cataract | -| Orphanet:441447 | Early-onset posterior subcapsular cataract | -| Orphanet:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | -| Orphanet:1943 | Early-onset progressive encephalopathy with migrant continuous myoclonus | -| Orphanet:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | -| Orphanet:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | -| Orphanet:352654 | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | -| Orphanet:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | -| Orphanet:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | -| Orphanet:98985 | Early-onset sutural cataract | -| Orphanet:98995 | Early-onset zonular cataract | -| Orphanet:391320 | East Texas bleeding disorder | -| Orphanet:83594 | Eastern equine encephalitis | -| Orphanet:166418 | Eating reflex epilepsy | -| Orphanet:319218 | Ebola hemorrhagic fever | -| Orphanet:1880 | Ebstein malformation of the tricuspid valve | -| Orphanet:99102 | Ectasia of the left atrial appendage | -| Orphanet:99101 | Ectasia of the right atrial appendage | -| Orphanet:79373 | Ectodermal dysplasia syndrome | -| Orphanet:69083 | Ectodermal dysplasia with natal teeth, Turnpenny type | -| Orphanet:1818 | Ectodermal dysplasia, trichoodontoonychial type | -| Orphanet:1806 | Ectodermal dysplasia-blindness syndrome | -| Orphanet:247827 | Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome | -| Orphanet:1812 | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome | -| Orphanet:247820 | Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome | -| Orphanet:1883 | Ectodermal dysplasia-sensorineural deafness syndrome | -| Orphanet:158668 | Ectodermal dysplasia-skin fragility syndrome | -| Orphanet:448270 | Ectopia cordis | -| Orphanet:1884 | Ectopia lentis-chorioretinal dystrophy-myopia syndrome | -| Orphanet:231632 | Ectopic aldosterone-producing tumor | -| Orphanet:498477 | Ectrodactyly with and without other manifestations | -| Orphanet:1892 | Ectrodactyly-polydactyly syndrome | -| Orphanet:1895 | Edinburgh malformation syndrome | -| Orphanet:98249 | Ehlers-Danlos syndrome | -| Orphanet:230857 | Ehlers-Danlos/osteogenesis imperfecta syndrome | -| Orphanet:1902 | Ehrlichiosis | -| Orphanet:79106 | Eiken syndrome | -| Orphanet:97214 | Eisenmenger syndrome | -| Orphanet:228240 | Elastoderma | -| Orphanet:228243 | Elastofibroma dorsi | -| Orphanet:228254 | Elastoma | -| Orphanet:79148 | Elastosis perforans serpiginosa | -| Orphanet:289 | Ellis Van Creveld syndrome | -| Orphanet:96170 | Emanuel syndrome | -| Orphanet:180226 | Embryonal carcinoma | -| Orphanet:48736 | Embryonal carcinoma of the central nervous system | -| Orphanet:99757 | Embryonal rhabdomyosarcoma | -| Orphanet:251852 | Embryonal tumor of neuroepithelial tissue | -| Orphanet:261 | Emery-Dreifuss muscular dystrophy | -| Orphanet:1927 | Emery-Nelson syndrome | -| Orphanet:1031 | Enamel-renal syndrome | -| Orphanet:97275 | Encephalitis | -| Orphanet:83600 | Encephalitis lethargica | -| Orphanet:269190 | Encephaloclastic disorder | -| Orphanet:2396 | Encephalocraniocutaneous lipomatosis | -| Orphanet:527276 | Encephalopathy due to mitochondrial and peroxisomal fission defect | -| Orphanet:139406 | Encephalopathy due to prosaposin deficiency | -| Orphanet:833 | Encephalopathy due to sulfite oxidase deficiency | -| Orphanet:319678 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | -| Orphanet:99075 | Encircling double aortic arch | -| Orphanet:636955 | Endemic pemphigus foliaceus | -| Orphanet:2022 | Endocardial fibroelastosis | -| Orphanet:199332 | Endocrine-cerebro-osteodysplasia syndrome | -| Orphanet:181390 | Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature | -| Orphanet:641613 | Endogenous Cushing syndrome | -| Orphanet:213711 | Endometrial stromal sarcoma | -| Orphanet:454723 | Endometrioid carcinoma of ovary | -| Orphanet:199323 | Endophthalmitis | -| Orphanet:2790 | Endosteal hyperostosis, Worth type | -| Orphanet:85186 | Endosteal sclerosis-cerebellar hypoplasia syndrome | -| Orphanet:225696 | Energy metabolism disorder with epilepsy | -| Orphanet:1937 | Eng-Strom syndrome | -| Orphanet:60015 | Enlarged parietal foramina | -| Orphanet:83620 | Enteric anendocrinosis | -| Orphanet:86880 | Enteropathy-associated T-cell lymphoma | -| Orphanet:85438 | Enthesitis-related juvenile idiopathic arthritis | -| Orphanet:449566 | Eosinophilic angiocentric fibrosis | -| Orphanet:402035 | Eosinophilic colitis | -| Orphanet:3165 | Eosinophilic fasciitis | -| Orphanet:2070 | Eosinophilic gastroenteritis | -| Orphanet:183 | Eosinophilic granulomatosis with polyangiitis | -| Orphanet:301 | Ependymal tumor | -| Orphanet:251880 | Ependymoblastoma | -| Orphanet:251636 | Ependymoma | -| Orphanet:99169 | Epiblepharon | -| Orphanet:231742 | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome | -| Orphanet:83314 | Epidemic typhus | -| Orphanet:79362 | Epidermal appendage anomaly | -| Orphanet:79353 | Epidermal disease | -| Orphanet:35125 | Epidermal nevus syndrome | -| Orphanet:302 | Epidermodysplasia verruciformis | -| Orphanet:46487 | Epidermolysis bullosa acquisita | -| Orphanet:304 | Epidermolysis bullosa simplex | -| Orphanet:412181 | Epidermolysis bullosa simplex due to BP230 deficiency | -| Orphanet:412189 | Epidermolysis bullosa simplex due to exophilin 5 deficiency | -| Orphanet:2325 | Epidermolysis bullosa simplex with anodontia/hypodontia | -| Orphanet:158681 | Epidermolysis bullosa simplex with circinate migratory erythema | -| Orphanet:595351 | Epidermolysis bullosa simplex with extracutaneous involvement | -| Orphanet:79397 | Epidermolysis bullosa simplex with mottled pigmentation | -| Orphanet:257 | Epidermolysis bullosa simplex with muscular dystrophy | -| Orphanet:158684 | Epidermolysis bullosa simplex with pyloric atresia | -| Orphanet:595346 | Epidermolysis bullosa simplex without extracutaneous involvement | -| Orphanet:497737 | Epidermolytic nevus | -| Orphanet:2199 | Epidermolytic palmoplantar keratoderma | -| Orphanet:141077 | Epignathus | -| Orphanet:306756 | Epilepsy and/or ataxia with myoclonus as a major feature | -| Orphanet:166463 | Epilepsy syndrome | -| Orphanet:86911 | Epilepsy with myoclonic absences | -| Orphanet:1948 | Epilepsy-microcephaly-skeletal dysplasia syndrome | -| Orphanet:1951 | Epilepsy-telangiectasia syndrome | -| Orphanet:353217 | Epileptic encephalopathy with global cerebral demyelination | -| Orphanet:1825 | Epiphyseal dysplasia-hearing loss-dysmorphism syndrome | -| Orphanet:1952 | Epiphyseal stippling-osteoclastic hyperplasia syndrome | -| Orphanet:399329 | Epiphysiolysis of the hip | -| Orphanet:37612 | Episodic ataxia type 1 | -| Orphanet:79135 | Episodic ataxia type 3 | -| Orphanet:79136 | Episodic ataxia type 4 | -| Orphanet:211067 | Episodic ataxia type 5 | -| Orphanet:209967 | Episodic ataxia type 6 | -| Orphanet:209970 | Episodic ataxia type 7 | -| Orphanet:401953 | Episodic ataxia with slurred speech | -| Orphanet:98956 | Epithelial basement membrane dystrophy | -| Orphanet:293381 | Epithelial recurrent erosion dystrophy | -| Orphanet:157791 | Epithelioid hemangioendothelioma | -| Orphanet:293202 | Epithelioid sarcoma | -| Orphanet:254698 | Epithelioid trophoblastic tumor | -| Orphanet:289651 | Epstein-Barr Virus-associated carcinoma | -| Orphanet:289656 | Epstein-Barr Virus-associated mesenchymal tumor | -| Orphanet:289638 | Epstein-Barr Virus-related tumor | -| Orphanet:313920 | Epstein-Barr virus-associated gastric carcinoma | -| Orphanet:289644 | Epstein-Barr virus-associated malignant lymphoproliferative disorder | -| Orphanet:289661 | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly | -| Orphanet:35687 | Erdheim-Chester disease | -| Orphanet:999 | Ermine phenotype | -| Orphanet:222 | Erosive pustular dermatosis of the scalp | -| Orphanet:90000 | Erythema elevatum diutinum | -| Orphanet:502499 | Erythema multiforme major | -| Orphanet:231031 | Erythema palmare hereditarium | -| Orphanet:308473 | Erythrocyte galactose epimerase deficiency | -| Orphanet:314 | Erythroderma desquamativum | -| Orphanet:79355 | Erythrokeratoderma | -| Orphanet:315 | Erythrokeratoderma ''en cocardes'' | -| Orphanet:308166 | Erythrokeratoderma variabilis progressiva | -| Orphanet:317 | Erythrokeratodermia variabilis | -| Orphanet:476096 | Erythrokeratodermia-cardiomyopathy syndrome | -| Orphanet:280379 | Erythropoietic uroporphyria associated with myeloid malignancy | -| Orphanet:1199 | Esophageal atresia | -| Orphanet:100047 | Esophageal duplication cyst | -| Orphanet:88993 | Esophageal malformation | -| Orphanet:2056 | Essential fructosuria | -| Orphanet:98981 | Essential iris atrophy | -| Orphanet:3318 | Essential thrombocythemia | -| Orphanet:1957 | Esthesioneuroblastoma | -| Orphanet:785 | Estrogen resistance syndrome | -| Orphanet:31826 | Ethylene glycol poisoning | -| Orphanet:51188 | Ethylmalonic encephalopathy | -| Orphanet:99172 | Euryblepharon | -| Orphanet:466682 | Euthyroid Graves orbitopathy | -| Orphanet:597939 | Euthyroid dysprealbuminemic hyperthyroxinemia | -| Orphanet:1959 | Evans syndrome | -| Orphanet:180170 | Excess breast volume or number | -| Orphanet:254843 | Exercise intolerance with lactic acidosis | -| Orphanet:165991 | Exercise-induced hyperinsulinism | -| Orphanet:466650 | Exercise-induced malignant hyperthermia | -| Orphanet:289586 | Exfoliative ichthyosis | -| Orphanet:1962 | Exostoses-anetodermia-brachydactyly type E syndrome | -| Orphanet:322 | Exstrophy-epispadias complex | -| Orphanet:440724 | Extensive peripapillary myelinated nerve fibers | -| Orphanet:3294 | Extensor tendons of finger anomalies | -| Orphanet:141074 | External auditory canal aplasia/hypoplasia | -| Orphanet:3023 | External auditory canal atresia-vertical talus-hypertelorism syndrome | -| Orphanet:494424 | Extracranial carotid artery aneurysm | -| Orphanet:66662 | Extracutaneous mastocytoma | -| Orphanet:182127 | Extragonadal germinoma | -| Orphanet:883 | Extragonadal teratoma | -| Orphanet:280811 | Extralobar congenital pulmonary sequestration | -| Orphanet:2800 | Extramammary Paget disease | -| Orphanet:645297 | Extramedullary conus spinal cord lipoma | -| Orphanet:100022 | Extramedullary soft tissue plasmacytoma | -| Orphanet:100002 | Extraneural perineurioma | -| Orphanet:86879 | Extranodal nasal NK/T cell lymphoma | -| Orphanet:137820 | Extrapelvic endometriosis | -| Orphanet:370334 | Extraskeletal Ewing sarcoma | -| Orphanet:209916 | Extraskeletal myxoid chondrosarcoma | -| Orphanet:1964 | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome | -| Orphanet:251927 | Extraventricular neurocytoma | -| Orphanet:3172 | Eyebrow duplication-syndactyly syndrome | -| Orphanet:98564 | Eyelid border anomaly | -| Orphanet:617919 | F12-associated cold autoinflammatory syndrome | -| Orphanet:100054 | F12-related hereditary angioedema with normal C1Inh | -| Orphanet:306550 | FADD-related immunodeficiency | -| Orphanet:166105 | FASTKD2-related infantile mitochondrial encephalomyopathy | -| Orphanet:2492 | FATCO syndrome | -| Orphanet:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | -| Orphanet:93932 | FG syndrome type 1 | -| Orphanet:313855 | FGFR2-related bent bone dysplasia | -| Orphanet:93420 | FGFR3-related chondrodysplasia | -| Orphanet:34515 | FKRP-related limb-girdle muscular dystrophy R9 | -| Orphanet:555877 | FLNA-related X-linked myxomatous valvular dysplasia | -| Orphanet:2045 | FLOTCH syndrome | -| Orphanet:561854 | FOXG1 syndrome | -| Orphanet:261144 | FOXG1 syndrome due to 14q12 microdeletion | -| Orphanet:598164 | FOXG1 syndrome due to intragenic alteration | -| Orphanet:100973 | FRAXE intellectual disability | -| Orphanet:100974 | FRAXF syndrome | -| Orphanet:247790 | FTH1-related iron overload | -| Orphanet:324 | Fabry disease | -| Orphanet:156230 | Facial arteriovenous malformation | -| Orphanet:141229 | Facial cleft | -| Orphanet:141051 | Facial dermoid cyst | -| Orphanet:480701 | Facial diplegia with paresthesias | -| Orphanet:1969 | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome | -| Orphanet:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | -| Orphanet:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | -| Orphanet:598603 | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome | -| Orphanet:352712 | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | -| Orphanet:412022 | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | -| Orphanet:1970 | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome | -| Orphanet:314555 | Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome | -| Orphanet:1778 | Facial dysmorphism-shawl scrotum-joint laxity syndrome | -| Orphanet:85162 | Facial onset sensory and motor neuronopathy | -| Orphanet:1973 | Faciocardiorenal syndrome | -| Orphanet:269 | Facioscapulohumeral dystrophy | -| Orphanet:599579 | Factor V Amsterdam bleeding disorder | -| Orphanet:600194 | Factor V Atlanta bleeding disorder | -| Orphanet:599519 | Factor V short isoforms-related bleeding disorder | -| Orphanet:3304 | Fallot complex-intellectual disability-growth delay syndrome | -| Orphanet:280397 | Familial Alzheimer-like prion disease | -| Orphanet:481662 | Familial Chilblain lupus | -| Orphanet:535458 | Familial GPIHBP1 deficiency | -| Orphanet:79293 | Familial LCAT deficiency | -| Orphanet:342 | Familial Mediterranean fever | -| Orphanet:86 | Familial abdominal aortic aneurysm | -| Orphanet:88619 | Familial acute necrotizing encephalopathy | -| Orphanet:733 | Familial adenomatous polyposis | -| Orphanet:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | -| Orphanet:95700 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone | -| Orphanet:164736 | Familial advanced sleep-phase syndrome | -| Orphanet:98880 | Familial afibrinogenemia | -| Orphanet:228277 | Familial anetoderma | -| Orphanet:199279 | Familial angiolipomatosis | -| Orphanet:229 | Familial aortic dissection | -| Orphanet:530849 | Familial apolipoprotein A5 deficiency | -| Orphanet:309020 | Familial apolipoprotein C-II deficiency | -| Orphanet:2295 | Familial articular hypermobility syndrome | -| Orphanet:334 | Familial atrial fibrillation | -| Orphanet:615 | Familial atrial myxoma | -| Orphanet:436242 | Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease | -| Orphanet:404560 | Familial atypical multiple mole melanoma syndrome | -| Orphanet:86820 | Familial avascular necrosis of femoral head | -| Orphanet:2841 | Familial benign chronic pemphigus | -| Orphanet:1551 | Familial benign copper deficiency | -| Orphanet:363989 | Familial benign flecked retina | -| Orphanet:402075 | Familial bicuspid aortic valve | -| Orphanet:1416 | Familial calcium pyrophosphate deposition | -| Orphanet:1768 | Familial caudal dysgenesis | -| Orphanet:464760 | Familial cavitary optic disc anomaly | -| Orphanet:221061 | Familial cerebral cavernous malformation | -| Orphanet:231160 | Familial cerebral saccular aneurysm | -| Orphanet:36382 | Familial cervical artery dissection | -| Orphanet:444490 | Familial chylomicronemia syndrome | -| Orphanet:238578 | Familial clubfoot due to 17q23.1q23.2 microduplication | -| Orphanet:293144 | Familial clubfoot due to 5q31 microdeletion | -| Orphanet:293150 | Familial clubfoot due to PITX1 point mutation | -| Orphanet:199315 | Familial clubfoot with or without associated lower limb anomalies | -| Orphanet:47045 | Familial cold urticaria | -| Orphanet:440437 | Familial colorectal cancer Type X | -| Orphanet:238722 | Familial congenital mirror movements | -| Orphanet:451612 | Familial congenital nasolacrimal duct obstruction | -| Orphanet:91498 | Familial congenital palsy of trochlear nerve | -| Orphanet:319189 | Familial cortical myoclonus | -| Orphanet:53296 | Familial cutaneous collagenoma | -| Orphanet:313846 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | -| Orphanet:211 | Familial cylindromatosis | -| Orphanet:1799 | Familial developmental dysphasia | -| Orphanet:85169 | Familial digital arthropathy-brachydactyly | -| Orphanet:217607 | Familial dilated cardiomyopathy | -| Orphanet:300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | -| Orphanet:75376 | Familial drusen | -| Orphanet:1764 | Familial dysautonomia | -| Orphanet:98881 | Familial dysfibrinogenemia | -| Orphanet:324588 | Familial dyskinesia and facial myokymia | -| Orphanet:85110 | Familial encephalopathy with neuroserpin inclusion bodies | -| Orphanet:391384 | Familial episodic pain syndrome | -| Orphanet:391392 | Familial episodic pain syndrome with predominantly lower limb involvement | -| Orphanet:391389 | Familial episodic pain syndrome with predominantly upper body involvement | -| Orphanet:85195 | Familial expansile osteolysis | -| Orphanet:891 | Familial exudative vitreoretinopathy | -| Orphanet:98820 | Familial focal epilepsy with variable foci | -| Orphanet:464756 | Familial gastric type 1 neuroendocrine tumor | -| Orphanet:231040 | Familial generalized lentiginosis | -| Orphanet:99819 | Familial gestational hyperthyroidism | -| Orphanet:361 | Familial glucocorticoid deficiency | -| Orphanet:540 | Familial hemophagocytic lymphohistiocytosis | -| Orphanet:403 | Familial hyperaldosteronism type I | -| Orphanet:404 | Familial hyperaldosteronism type II | -| Orphanet:251274 | Familial hyperaldosteronism type III | -| Orphanet:642671 | Familial hyperaldosteronism type IV | -| Orphanet:238475 | Familial hypercholanemia | -| Orphanet:619953 | Familial hyperinflammatory lymphoproliferative immunodeficiency | -| Orphanet:276525 | Familial hyperinsulinism | -| Orphanet:306661 | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome | -| Orphanet:397685 | Familial hyperprolactinemia | -| Orphanet:424 | Familial hyperthyroidism due to mutations in TSH receptor | -| Orphanet:427 | Familial hypoaldosteronism | -| Orphanet:405 | Familial hypocalciuric hypercalcemia | -| Orphanet:93372 | Familial hypocalciuric hypercalcemia type 1 | -| Orphanet:101049 | Familial hypocalciuric hypercalcemia type 2 | -| Orphanet:101050 | Familial hypocalciuric hypercalcemia type 3 | -| Orphanet:248408 | Familial hypodysfibrinogenemia | -| Orphanet:101041 | Familial hypofibrinogenemia | -| Orphanet:1677 | Familial idiopathic dilatation of the right atrium | -| Orphanet:225154 | Familial infantile bilateral striatal necrosis | -| Orphanet:352582 | Familial infantile myoclonic epilepsy | -| Orphanet:508410 | Familial intestinal malrotation | -| Orphanet:217656 | Familial isolated arrhythmogenic right ventricular dysplasia | -| Orphanet:293899 | Familial isolated arrhythmogenic ventricular dysplasia, biventricular form | -| Orphanet:293888 | Familial isolated arrhythmogenic ventricular dysplasia, left dominant form | -| Orphanet:293910 | Familial isolated arrhythmogenic ventricular dysplasia, right dominant form | -| Orphanet:2678 | Familial isolated café-au-lait macules | -| Orphanet:295014 | Familial isolated clinodactyly of fingers | -| Orphanet:101351 | Familial isolated congenital asplenia | -| Orphanet:154 | Familial isolated dilated cardiomyopathy | -| Orphanet:99879 | Familial isolated hyperparathyroidism | -| Orphanet:2238 | Familial isolated hypoparathyroidism | -| Orphanet:2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | -| Orphanet:189466 | Familial isolated hypoparathyroidism due to impaired PTH secretion | -| Orphanet:314777 | Familial isolated pituitary adenoma | -| Orphanet:75249 | Familial isolated restrictive cardiomyopathy | -| Orphanet:411788 | Familial isolated trichomegaly | -| Orphanet:180176 | Familial juvenile hypertrophy of the breast | -| Orphanet:493 | Familial keratoacanthoma | -| Orphanet:535453 | Familial lipase maturation factor 1 deficiency | -| Orphanet:309015 | Familial lipoprotein lipase deficiency | -| Orphanet:768 | Familial long QT syndrome | -| Orphanet:401942 | Familial median cleft of the upper and lower lips | -| Orphanet:99361 | Familial medullary thyroid carcinoma | -| Orphanet:618 | Familial melanoma | -| Orphanet:165805 | Familial mesial temporal lobe epilepsy with febrile seizures | -| Orphanet:741 | Familial mitral valve prolapse | -| Orphanet:495930 | Familial monosomy 7 syndrome | -| Orphanet:276399 | Familial multinodular goiter | -| Orphanet:538756 | Familial multiple discoid fibromas | -| Orphanet:199276 | Familial multiple lipomatosis | -| Orphanet:263662 | Familial multiple meningioma | -| Orphanet:624 | Familial multiple nevi flammei | -| Orphanet:867 | Familial multiple trichoepithelioma | -| Orphanet:922 | Familial nasal acilia | -| Orphanet:319494 | Familial nonmedullary thyroid carcinoma | -| Orphanet:306658 | Familial normophosphatemic tumoral calcinosis | -| Orphanet:280403 | Familial omphalocele syndrome with facial dysmorphism | -| Orphanet:569 | Familial or sporadic hemiplegic migraine | -| Orphanet:435329 | Familial ossifying fibroma | -| Orphanet:251262 | Familial osteochondritis dissecans | -| Orphanet:2769 | Familial osteodysplasia, Anderson type | -| Orphanet:1333 | Familial pancreatic carcinoma | -| Orphanet:319487 | Familial papillary or follicular thyroid carcinoma | -| Orphanet:97290 | Familial papillary thyroid carcinoma with renal papillary neoplasia | -| Orphanet:97 | Familial paroxysmal ataxia | -| Orphanet:309 | Familial partial epilepsy | -| Orphanet:98306 | Familial partial lipodystrophy | -| Orphanet:2348 | Familial partial lipodystrophy, Dunnigan type | -| Orphanet:79084 | Familial partial lipodystrophy, Köbberling type | -| Orphanet:466729 | Familial patent arterial duct | -| Orphanet:3000 | Familial peripheral male-limited precocious puberty | -| Orphanet:71290 | Familial platelet disorder with associated myeloid malignancy | -| Orphanet:99810 | Familial porencephaly | -| Orphanet:443062 | Familial porphyria cutanea tarda | -| Orphanet:2207 | Familial primary hyperparathyroidism | -| Orphanet:353220 | Familial primary localized cutaneous amyloidosis | -| Orphanet:871 | Familial progressive cardiac conduction defect | -| Orphanet:280628 | Familial progressive hyper- and hypopigmentation | -| Orphanet:79146 | Familial progressive hyperpigmentation | -| Orphanet:488197 | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | -| Orphanet:1331 | Familial prostate cancer | -| Orphanet:90044 | Familial pseudohyperkalemia | -| Orphanet:2989 | Familial pterygium of the conjunctiva | -| Orphanet:79147 | Familial reactive perforating collagenosis | -| Orphanet:2809 | Familial recurrent peripheral facial palsy | -| Orphanet:69076 | Familial renal glucosuria | -| Orphanet:217635 | Familial restrictive cardiomyopathy | -| Orphanet:284247 | Familial retinal arterial macroaneurysm | -| Orphanet:169163 | Familial scaphocephaly syndrome | -| Orphanet:168624 | Familial scaphocephaly syndrome, McGillivray type | -| Orphanet:481986 | Familial schizencephaly | -| Orphanet:51083 | Familial short QT syndrome | -| Orphanet:166282 | Familial sick sinus syndrome | -| Orphanet:2903 | Familial spontaneous pneumothorax | -| Orphanet:506334 | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | -| Orphanet:280406 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | -| Orphanet:2456 | Familial supernumerary nipples | -| Orphanet:370034 | Familial syringomyelia | -| Orphanet:98819 | Familial temporal lobe epilepsy | -| Orphanet:91387 | Familial thoracic aortic aneurysm and aortic dissection | -| Orphanet:71493 | Familial thrombocytosis | -| Orphanet:3324 | Familial thrombomodulin anomalies | -| Orphanet:93953 | Familial thyroglossal duct cyst | -| Orphanet:95716 | Familial thyroid dyshormonogenesis | -| Orphanet:53715 | Familial tumoral calcinosis | -| Orphanet:289365 | Familial vesicoureteral reflux | -| Orphanet:2604 | Familial visceral myopathy | -| Orphanet:84 | Fanconi anemia | -| Orphanet:2088 | Fanconi-Bickel syndrome | -| Orphanet:333 | Farber disease | -| Orphanet:99906 | Farmer's lung disease | -| Orphanet:439854 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | -| Orphanet:466 | Fatal familial insomnia | -| Orphanet:1561 | Fatal infantile cytochrome C oxidase deficiency | -| Orphanet:280553 | Fatal infantile hypertonic myofibrillar myopathy | -| Orphanet:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | -| Orphanet:168566 | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | -| Orphanet:391343 | Fatal post-viral neurodegenerative disorder | -| Orphanet:329308 | Fatty acid hydroxylase-associated neurodegeneration | -| Orphanet:438178 | Fatty acyl-CoA reductase 1 deficiency | -| Orphanet:163703 | Febrile infection-related epilepsy syndrome | -| Orphanet:1305 | Feingold syndrome | -| Orphanet:391641 | Feingold syndrome type 1 | -| Orphanet:391646 | Feingold syndrome type 2 | -| Orphanet:47612 | Felty syndrome | -| Orphanet:400025 | Female infertility due to an implantation defect of genetic origin | -| Orphanet:488191 | Female infertility due to oocyte meiotic arrest | -| Orphanet:404466 | Female infertility due to zona pellucida defect | -| Orphanet:101039 | Female restricted epilepsy with intellectual disability | -| Orphanet:1987 | Femoral agenesis/hypoplasia | -| Orphanet:1988 | Femoral-facial syndrome | -| Orphanet:2019 | Femur-fibula-ulna complex | -| Orphanet:397922 | Ferro-cerebro-cutaneous syndrome | -| Orphanet:648562 | Ferroportin Disease | -| Orphanet:85212 | Fetal Gaucher disease | -| Orphanet:994 | Fetal akinesia deformation sequence | -| Orphanet:363409 | Fetal akinesia-cerebral and retinal hemorrhage syndrome | -| Orphanet:1915 | Fetal alcohol syndrome | -| Orphanet:853 | Fetal and neonatal alloimmune thrombocytopenia | -| Orphanet:370068 | Fetal anticonvulsant syndrome | -| Orphanet:370076 | Fetal carbamazepine syndrome | -| Orphanet:294 | Fetal cytomegalovirus syndrome | -| Orphanet:465824 | Fetal encasement syndrome | -| Orphanet:1912 | Fetal hydantoin syndrome | -| Orphanet:1910 | Fetal iodine syndrome | -| Orphanet:284362 | Fetal lung interstitial tumor | -| Orphanet:1917 | Fetal methylmercury syndrome | -| Orphanet:1918 | Fetal minoxidil syndrome | -| Orphanet:295 | Fetal parvovirus syndrome | -| Orphanet:1913 | Fetal trimethadione syndrome | -| Orphanet:1906 | Fetal valproate spectrum disorder | -| Orphanet:464724 | Fever-associated acute infantile liver failure syndrome | -| Orphanet:251601 | Fibrillary astrocytoma | -| Orphanet:477650 | Fibroblastic rheumatism | -| Orphanet:2021 | Fibrochondrogenesis | -| Orphanet:337 | Fibrodysplasia ossificans progressiva | -| Orphanet:555434 | Fibrohistiocytic inflammatory pseudotumor of the liver | -| Orphanet:401920 | Fibrolamellar hepatocellular carcinoma | -| Orphanet:645279 | Fibrolipomatous filum anomaly | -| Orphanet:84090 | Fibronectin glomerulopathy | -| Orphanet:645310 | Fibroneural non-saccular limited dorsal myeloschisis | -| Orphanet:2030 | Fibrosarcoma | -| Orphanet:621758 | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome | -| Orphanet:249 | Fibrous dysplasia of bone | -| Orphanet:595216 | Fibrous dysplasia/McCune-Albright syndrome | -| Orphanet:2639 | Fibular aplasia-complex brachydactyly syndrome | -| Orphanet:1118 | Fibular aplasia-ectrodactyly syndrome | -| Orphanet:1757 | Fibular dimelia-diplopodia syndrome | -| Orphanet:93323 | Fibular hemimelia | -| Orphanet:2256 | Fibulo-ulnar hypoplasia-renal anomalies syndrome | -| Orphanet:93425 | Filamin-related bone disorder | -| Orphanet:2034 | Filariasis | -| Orphanet:3255 | Filippi syndrome | -| Orphanet:369979 | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | -| Orphanet:97232 | Fingerprint body myopathy | -| Orphanet:399086 | Finnish upper limb-onset distal myopathy | -| Orphanet:141013 | First branchial cleft anomaly | -| Orphanet:79292 | Fish-eye disease | -| Orphanet:293812 | Fixed drug eruption | -| Orphanet:3092 | Fixed subaortic stenosis | -| Orphanet:1968 | Flat face-microstomia-ear anomaly syndrome | -| Orphanet:98970 | Fleck corneal dystrophy | -| Orphanet:2044 | Floating-Harbor syndrome | -| Orphanet:83451 | Florid cemento-osseous dysplasia | -| Orphanet:2047 | Flynn-Aird syndrome | -| Orphanet:308013 | Focal acral hyperkeratosis | -| Orphanet:2092 | Focal dermal hypoplasia | -| Orphanet:352587 | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation | -| Orphanet:398166 | Focal facial dermal dysplasia | -| Orphanet:79133 | Focal facial dermal dysplasia type I | -| Orphanet:398173 | Focal facial dermal dysplasia type II | -| Orphanet:1807 | Focal facial dermal dysplasia type III | -| Orphanet:398189 | Focal facial dermal dysplasia type IV | -| Orphanet:48918 | Focal myositis | -| Orphanet:2200 | Focal palmoplantar and gingival keratoderma | -| Orphanet:307837 | Focal palmoplantar keratoderma | -| Orphanet:370002 | Focal palmoplantar keratoderma with joint keratoses | -| Orphanet:443804 | Focal stiff limb syndrome | -| Orphanet:1866 | Focal, segmental or multifocal dystonia | -| Orphanet:79093 | Foix-Alajouanine syndrome | -| Orphanet:2048 | Foix-Chavany-Marie syndrome | -| Orphanet:79097 | Folinic acid-responsive seizures | -| Orphanet:300552 | Follicular cholangitis and pancreatitis | -| Orphanet:86902 | Follicular dendritic cell sarcoma | -| Orphanet:545 | Follicular lymphoma | -| Orphanet:178512 | Folliculotropic mycosis fungoides | -| Orphanet:228371 | Foodborne botulism | -| Orphanet:51208 | Formiminoglutamic aciduria | -| Orphanet:3219 | Fountain syndrome | -| Orphanet:141037 | Fourth branchial cleft anomaly | -| Orphanet:397618 | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | -| Orphanet:2253 | Foveal hypoplasia-presenile cataract syndrome | -| Orphanet:2795 | Fowler urethral sphincter dysfunction syndrome | -| Orphanet:221126 | Fowler vasculopathy | -| Orphanet:908 | Fragile X syndrome | -| Orphanet:642691 | Fragile X-associated primary ovarian insufficiency | -| Orphanet:93256 | Fragile X-associated tremor/ataxia syndrome | -| Orphanet:137834 | Frank-Ter Haar syndrome | -| Orphanet:2052 | Fraser syndrome | -| Orphanet:347 | Frasier syndrome | -| Orphanet:834 | Free sialic acid storage disease | -| Orphanet:309324 | Free sialic acid storage disease, infantile form | -| Orphanet:2053 | Freeman-Sheldon syndrome | -| Orphanet:85335 | Fried syndrome | -| Orphanet:99672 | Fried's tooth and nail syndrome | -| Orphanet:95 | Friedreich ataxia | -| Orphanet:1931 | Frontal encephalocele | -| Orphanet:254492 | Frontal fibrosing alopecia | -| Orphanet:1791 | Frontofacionasal dysplasia | -| Orphanet:1826 | Frontometaphyseal dysplasia | -| Orphanet:141168 | Frontonasal arteriovenous malformation | -| Orphanet:250 | Frontonasal dysplasia | -| Orphanet:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | -| Orphanet:521308 | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome | -| Orphanet:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | -| Orphanet:391474 | Frontorhiny | -| Orphanet:98535 | Frontotemporal degeneration with dementia | -| Orphanet:282 | Frontotemporal dementia | -| Orphanet:275872 | Frontotemporal dementia with motor neuron disease | -| Orphanet:306708 | Frontotemporal neurodegeneration with movement disorder | -| Orphanet:348 | Fructose-1,6-bisphosphatase deficiency | -| Orphanet:2059 | Fryns syndrome | -| Orphanet:2058 | Fryns-Smeets-Thiry syndrome | -| Orphanet:98974 | Fuchs endothelial corneal dystrophy | -| Orphanet:263479 | Fuchs heterochromic iridocyclitis | -| Orphanet:349 | Fucosidosis | -| Orphanet:2854 | Fuhrmann syndrome | -| Orphanet:206554 | Fukutin-related limb-girdle muscular dystrophy R13 | -| Orphanet:637 | Full NF2-related schwannomatosis | -| Orphanet:93921 | Full schwannomatosis | -| Orphanet:35063 | Fulminant viral hepatitis | -| Orphanet:24 | Fumaric aciduria | -| Orphanet:183681 | Functional neutrophil defect | -| Orphanet:231419 | Functional variant of Guillain-Barré syndrome | -| Orphanet:91348 | Functioning gonadotropic adenoma | -| Orphanet:506060 | Functioning neuroendocrine tumor of pancreas | -| Orphanet:314753 | Functioning pituitary adenoma | -| Orphanet:227796 | Fundus albipunctatus | -| Orphanet:99004 | Fundus pulverulentus | -| Orphanet:519930 | Fungal keratitis | -| Orphanet:207000 | Fungal myositis | -| Orphanet:591 | Furuncular myiasis | -| Orphanet:563687 | Furuncular myiasis due to Cordylobia anthropophaga | -| Orphanet:563690 | Furuncular myiasis due to Cordylobia rodhaini | -| Orphanet:563684 | Furuncular myiasis due to Dermatobia hominis | -| Orphanet:228119 | Fusariosis | -| Orphanet:2287 | Fused mandibular incisors | -| Orphanet:2067 | GAPO syndrome | -| Orphanet:438274 | GCGR-related hyperglucagonemia | -| Orphanet:568051 | GJC2-related late-onset primary lymphedema | -| Orphanet:354 | GM1 gangliosidosis | -| Orphanet:79255 | GM1 gangliosidosis type 1 | -| Orphanet:79256 | GM1 gangliosidosis type 2 | -| Orphanet:79257 | GM1 gangliosidosis type 3 | -| Orphanet:309246 | GM2 gangliosidosis, AB variant | -| Orphanet:370933 | GM3 synthase deficiency | -| Orphanet:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | -| Orphanet:2090 | GMS syndrome | -| Orphanet:592564 | GNAO1-related developmental delay-seizures-movement disorder spectrum | -| Orphanet:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | -| Orphanet:602 | GNE myopathy | -| Orphanet:53693 | GRACILE syndrome | -| Orphanet:97261 | GRFoma | -| Orphanet:589547 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | -| Orphanet:2102 | GTP cyclohydrolase I deficiency | -| Orphanet:506358 | Gabriele-de Vries syndrome | -| Orphanet:90041 | Gaisböck syndrome | -| Orphanet:79237 | Galactokinase deficiency | -| Orphanet:79238 | Galactose epimerase deficiency | -| Orphanet:570422 | Galactose mutarotase deficiency | -| Orphanet:352 | Galactosemia | -| Orphanet:351 | Galactosialidosis | -| Orphanet:100086 | Gallbladder neuroendocrine tumor | -| Orphanet:2065 | Galloway-Mowat syndrome | -| Orphanet:2066 | Gamma-aminobutyric acid transaminase deficiency | -| Orphanet:33573 | Gamma-glutamyl transpeptidase deficiency | -| Orphanet:100026 | Gamma-heavy chain disease | -| Orphanet:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | -| Orphanet:251937 | Gangliocytoma | -| Orphanet:251949 | Ganglioglioma | -| Orphanet:251877 | Ganglioneuroblastoma | -| Orphanet:251992 | Ganglioneuroma | -| Orphanet:79665 | Gardner syndrome | -| Orphanet:314022 | Gastric adenocarcinoma and proximal polyposis of the stomach | -| Orphanet:36273 | Gastric linitis plastica | -| Orphanet:2069 | Gastrocutaneous syndrome | -| Orphanet:97944 | Gastroduodenal malformation | -| Orphanet:481508 | Gastroenteric neuroendocrine neoplasm | -| Orphanet:100092 | Gastroenteropancreatic neuroendocrine neoplasm | -| Orphanet:44890 | Gastrointestinal stromal tumor | -| Orphanet:2368 | Gastroschisis | -| Orphanet:355 | Gaucher disease | -| Orphanet:77259 | Gaucher disease type 1 | -| Orphanet:77260 | Gaucher disease type 2 | -| Orphanet:77261 | Gaucher disease type 3 | -| Orphanet:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | -| Orphanet:98957 | Gelatinous drop-like corneal dystrophy | -| Orphanet:2623 | Geleophysic dysplasia | -| Orphanet:2074 | Gemignani syndrome | -| Orphanet:251604 | Gemistocytic astrocytoma | -| Orphanet:51608 | Generalized arterial calcification of infancy | -| Orphanet:168632 | Generalized basaloid follicular hamartoma syndrome | -| Orphanet:206710 | Generalized bulbospinal muscular atrophy | -| Orphanet:36387 | Generalized epilepsy with febrile seizures-plus | -| Orphanet:79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome | -| Orphanet:157991 | Generalized eruptive histiocytosis | -| Orphanet:411777 | Generalized eruptive keratoacanthoma | -| Orphanet:280774 | Generalized essential telangiectasia | -| Orphanet:308487 | Generalized galactose epimerase deficiency | -| Orphanet:786 | Generalized glucocorticoid resistance syndrome | -| Orphanet:376724 | Generalized isolated dystonia | -| Orphanet:329971 | Generalized juvenile polyposis/juvenile polyposis coli | -| Orphanet:263543 | Generalized peeling skin syndrome | -| Orphanet:171876 | Generalized pseudohypoaldosteronism type 1 | -| Orphanet:247353 | Generalized pustular psoriasis | -| Orphanet:325697 | Genetic 46,XX difference of sex development | -| Orphanet:325706 | Genetic 46,XY difference of sex development | -| Orphanet:325713 | Genetic 46,XY difference of sex development of endocrine origin | -| Orphanet:183441 | Genetic acrokeratoderma | -| Orphanet:481771 | Genetic alopecia | -| Orphanet:156607 | Genetic biliary tract disease | -| Orphanet:183527 | Genetic bone tumor | -| Orphanet:183576 | Genetic branchial arch or oral-acral syndrome | -| Orphanet:271853 | Genetic cardiac anomaly | -| Orphanet:477805 | Genetic cardiac malformation | -| Orphanet:101934 | Genetic cardiac rhythm disease | -| Orphanet:271841 | Genetic cardiac tumor | -| Orphanet:183503 | Genetic central nervous system and retinal vascular disease | -| Orphanet:183506 | Genetic central nervous system malformation | -| Orphanet:650182 | Genetic central precocious puberty | -| Orphanet:650077 | Genetic central precocious puberty in female | -| Orphanet:650097 | Genetic central precocious puberty in male | -| Orphanet:269560 | Genetic cerebellar malformation | -| Orphanet:269553 | Genetic cerebral malformation | -| Orphanet:477754 | Genetic cerebral small vessel disease | -| Orphanet:101960 | Genetic chronic primary adrenal insufficiency | -| Orphanet:459537 | Genetic complex vascular malformation with associated anomalies | -| Orphanet:183536 | Genetic congenital limb malformation | -| Orphanet:522560 | Genetic corneal dystrophy | -| Orphanet:183542 | Genetic cranial malformation | -| Orphanet:93587 | Genetic cystic renal disease | -| Orphanet:158124 | Genetic dementia | -| Orphanet:183472 | Genetic dermis disorder | -| Orphanet:183557 | Genetic developmental defect of the eye | -| Orphanet:325690 | Genetic difference of sex development | -| Orphanet:325665 | Genetic difference of sex development of gynecological interest | -| Orphanet:183545 | Genetic digestive tract malformation | -| Orphanet:271835 | Genetic digestive tract tumor | -| Orphanet:156643 | Genetic endocrine growth disease | -| Orphanet:183447 | Genetic epidermal appendage anomaly | -| Orphanet:183426 | Genetic epidermal disorder | -| Orphanet:183438 | Genetic erythrokeratoderma | -| Orphanet:183619 | Genetic eye tumor | -| Orphanet:414726 | Genetic facial cleft | -| Orphanet:276061 | Genetic frontotemporal degeneration with dementia | -| Orphanet:165658 | Genetic gastro-esophageal disease | -| Orphanet:183586 | Genetic glomerular disease | -| Orphanet:183734 | Genetic gynecological tumor | -| Orphanet:183450 | Genetic hair anomaly | -| Orphanet:183583 | Genetic head and neck malformation | -| Orphanet:466066 | Genetic hemoglobinopathy | -| Orphanet:576742 | Genetic hemolytic uremic syndrome | -| Orphanet:371861 | Genetic hyperaldosteronism | -| Orphanet:254704 | Genetic hyperferritinemia without iron overload | -| Orphanet:208596 | Genetic hyperparathyroidism | -| Orphanet:208593 | Genetic hypoparathyroidism | -| Orphanet:183494 | Genetic immune deficiency with skin involvement | -| Orphanet:275742 | Genetic infertility | -| Orphanet:498445 | Genetic inflammatory or rheumatoid-like osteoarthropathy | -| Orphanet:264992 | Genetic interstitial lung disease | -| Orphanet:165655 | Genetic intestinal disease | -| Orphanet:363306 | Genetic intestinal disease due to fat malabsorption | -| Orphanet:363314 | Genetic intestinal polyposis | -| Orphanet:363300 | Genetic intractable diarrhea of infancy | -| Orphanet:435609 | Genetic larynx anomaly | -| Orphanet:471383 | Genetic lethal multiple congenital anomalies/dysmorphic syndrome | -| Orphanet:98305 | Genetic lipodystrophy | -| Orphanet:183580 | Genetic malformation syndrome with odontal and/or periodontal component | -| Orphanet:183570 | Genetic malformation syndrome with short stature | -| Orphanet:183481 | Genetic mixed dermis disorder | -| Orphanet:98505 | Genetic motor neuron disease | -| Orphanet:183533 | Genetic multiple congenital anomalies/dysmorphic syndrome | -| Orphanet:330206 | Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | -| Orphanet:611327 | Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability | -| Orphanet:183454 | Genetic nail anomaly | -| Orphanet:183616 | Genetic neuro-ophthalmological disease | -| Orphanet:183500 | Genetic neurodegenerative disease | -| Orphanet:276058 | Genetic neurodegenerative disease with dementia | -| Orphanet:271847 | Genetic neuroendocrine tumor | -| Orphanet:98743 | Genetic neurological channelopathy of the central nervous system | -| Orphanet:183497 | Genetic neuromuscular disease | -| Orphanet:371436 | Genetic neurovascular malformation | -| Orphanet:98267 | Genetic non-syndromic obesity | -| Orphanet:435606 | Genetic nose and cavum anomaly | -| Orphanet:77828 | Genetic obesity | -| Orphanet:466084 | Genetic otorhinolaryngologic disease | -| Orphanet:435603 | Genetic otorhinolaryngological malformation | -| Orphanet:183573 | Genetic overgrowth/obesity syndrome | -| Orphanet:165661 | Genetic pancreatic disease | -| Orphanet:156604 | Genetic parenchymatous liver disease | -| Orphanet:371433 | Genetic periodic paralysis | -| Orphanet:98497 | Genetic peripheral neuropathy | -| Orphanet:183490 | Genetic photodermatosis | -| Orphanet:183463 | Genetic pigmentation anomaly of the skin | -| Orphanet:250165 | Genetic polycythemia | -| Orphanet:183643 | Genetic polyendocrinopathy | -| Orphanet:183444 | Genetic porokeratosis | -| Orphanet:269557 | Genetic posterior fossa malformation | -| Orphanet:435554 | Genetic precocious puberty | -| Orphanet:435564 | Genetic precocious puberty in female | -| Orphanet:485382 | Genetic premature ovarian failure | -| Orphanet:521232 | Genetic primary orthostatic disorder | -| Orphanet:448426 | Genetic primary orthostatic hypotension | -| Orphanet:363245 | Genetic progeroid syndrome | -| Orphanet:99845 | Genetic recurrent myoglobinuria | -| Orphanet:183539 | Genetic renal or urinary tract malformation | -| Orphanet:183592 | Genetic renal tubular disease | -| Orphanet:183595 | Genetic renal tumor | -| Orphanet:183622 | Genetic respiratory malformation | -| Orphanet:183554 | Genetic respiratory or mediastinal malformation | -| Orphanet:183460 | Genetic sebaceous gland anomaly | -| Orphanet:183487 | Genetic skin tumor or hamartoma | -| Orphanet:183478 | Genetic skin vascular disorder | -| Orphanet:271832 | Genetic soft tissue tumor | -| Orphanet:656 | Genetic steroid-resistant nephrotic syndrome | -| Orphanet:183484 | Genetic subcutaneous tissue disorder | -| Orphanet:522562 | Genetic superficial corneal dystrophy | -| Orphanet:183710 | Genetic susceptibility to infections due to particular pathogens | -| Orphanet:269570 | Genetic syndrome with a Dandy-Walker malformation as a major feature | -| Orphanet:269573 | Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature | -| Orphanet:363294 | Genetic syndromic Pierre Robin syndrome | -| Orphanet:371445 | Genetic syndromic esophageal malformation | -| Orphanet:183589 | Genetic thrombotic microangiopathy | -| Orphanet:435612 | Genetic tracheal anomaly | -| Orphanet:226316 | Genetic transient congenital hypothyroidism | -| Orphanet:322126 | Genetic tumor of hematopoietic and lymphoid tissues | -| Orphanet:156622 | Genetic urogenital tract malformation | -| Orphanet:271844 | Genetic urogenital tumor | -| Orphanet:182734 | Genetic urticaria | -| Orphanet:211240 | Genetic vascular anomaly | -| Orphanet:183548 | Genetic visceral malformation of the liver, biliary tract, pancreas or spleen | -| Orphanet:2075 | Genitopalatocardiac syndrome | -| Orphanet:85201 | Genitopatellar syndrome | -| Orphanet:85197 | Genochondromatosis type 1 | -| Orphanet:93398 | Genochondromatosis type 2 | -| Orphanet:2077 | German syndrome | -| Orphanet:91352 | Germinoma of the central nervous system | -| Orphanet:2078 | Geroderma osteodysplastica | -| Orphanet:221117 | Gerstmann syndrome | -| Orphanet:356 | Gerstmann-Straussler-Scheinker syndrome | -| Orphanet:99926 | Gestational choriocarcinoma | -| Orphanet:254685 | Gestational trophoblastic disease | -| Orphanet:59305 | Gestational trophoblastic neoplasm | -| Orphanet:1802 | Ghosal hematodiaphyseal dysplasia | -| Orphanet:180267 | Giant adenofibroma of the breast | -| Orphanet:643 | Giant axonal neuropathy | -| Orphanet:397 | Giant cell arteritis | -| Orphanet:251579 | Giant cell glioblastoma | -| Orphanet:363976 | Giant cell tumor of bone | -| Orphanet:2025 | Gingival fibromatosis-facial dysmorphism syndrome | -| Orphanet:2026 | Gingival fibromatosis-hypertrichosis syndrome | -| Orphanet:2027 | Gingival fibromatosis-progressive deafness syndrome | -| Orphanet:358 | Gitelman syndrome | -| Orphanet:620371 | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation | -| Orphanet:849 | Glanzmann thrombasthenia | -| Orphanet:213833 | Glassy cell carcinoma of the cervix uteri | -| Orphanet:238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | -| Orphanet:2084 | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome | -| Orphanet:2085 | Glaucoma-sleep apnea syndrome | -| Orphanet:636950 | Glaucomatocyclitic crisis disease | -| Orphanet:182067 | Glial tumor | -| Orphanet:251668 | Glial tumor of neuroepithelial tissue with unknown origin | -| Orphanet:360 | Glioblastoma | -| Orphanet:269197 | Glioependymal/ependymal cyst | -| Orphanet:251582 | Gliomatosis cerebri | -| Orphanet:251576 | Gliosarcoma | -| Orphanet:269224 | Global cerebellar malformation | -| Orphanet:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | -| Orphanet:404476 | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome | -| Orphanet:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | -| Orphanet:73223 | Global developmental delay-osteopenia-ectodermal defect syndrome | -| Orphanet:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | -| Orphanet:391651 | Glomus tumor | -| Orphanet:83454 | Glomuvenous malformation | -| Orphanet:141163 | Glossopalatine ankylosis | -| Orphanet:221098 | Glossopharyngeal neuralgia | -| Orphanet:97280 | Glucagonoma | -| Orphanet:79177 | Gluconeogenesis disorder | -| Orphanet:79178 | Glucose transport disorder | -| Orphanet:35710 | Glucose-galactose malabsorption | -| Orphanet:33574 | Glutamate-cysteine ligase deficiency | -| Orphanet:35706 | Glutaric acidemia type 3 | -| Orphanet:25 | Glutaryl-CoA dehydrogenase deficiency | -| Orphanet:32 | Glutathione synthetase deficiency | -| Orphanet:289846 | Glutathione synthetase deficiency with 5-oxoprolinuria | -| Orphanet:289849 | Glutathione synthetase deficiency without 5-oxoprolinuria | -| Orphanet:308993 | Glycerol kinase deficiency | -| Orphanet:284414 | Glycerol kinase deficiency, adult form | -| Orphanet:284411 | Glycerol kinase deficiency, juvenile form | -| Orphanet:407 | Glycine encephalopathy | -| Orphanet:79201 | Glycogen storage disease | -| Orphanet:34587 | Glycogen storage disease due to LAMP-2 deficiency | -| Orphanet:365 | Glycogen storage disease due to acid maltase deficiency | -| Orphanet:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | -| Orphanet:420429 | Glycogen storage disease due to acid maltase deficiency, late-onset | -| Orphanet:57 | Glycogen storage disease due to aldolase A deficiency | -| Orphanet:364 | Glycogen storage disease due to glucose-6-phosphatase deficiency | -| Orphanet:79258 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | -| Orphanet:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | -| Orphanet:367 | Glycogen storage disease due to glycogen branching enzyme deficiency | -| Orphanet:308712 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | -| Orphanet:308684 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | -| Orphanet:308698 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | -| Orphanet:308670 | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | -| Orphanet:308655 | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | -| Orphanet:308638 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | -| Orphanet:308621 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | -| Orphanet:366 | Glycogen storage disease due to glycogen debranching enzyme deficiency | -| Orphanet:308520 | Glycogen storage disease due to glycogen synthase deficiency | -| Orphanet:2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency | -| Orphanet:284435 | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | -| Orphanet:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | -| Orphanet:2364 | Glycogen storage disease due to lactate dehydrogenase deficiency | -| Orphanet:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | -| Orphanet:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | -| Orphanet:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | -| Orphanet:137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | -| Orphanet:99849 | Glycogen storage disease due to muscle beta-enolase deficiency | -| Orphanet:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | -| Orphanet:371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | -| Orphanet:715 | Glycogen storage disease due to muscle phosphorylase kinase deficiency | -| Orphanet:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | -| Orphanet:97234 | Glycogen storage disease due to phosphoglycerate mutase deficiency | -| Orphanet:370 | Glycogen storage disease due to phosphorylase kinase deficiency | -| Orphanet:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | -| Orphanet:309279 | Glycoproteinosis | -| Orphanet:53697 | Gnathodiaphyseal dysplasia | -| Orphanet:329984 | Goblet cell carcinoma | -| Orphanet:66629 | Goldberg-Shprintzen megacolon syndrome | -| Orphanet:53540 | Goldmann-Favre syndrome | -| Orphanet:1986 | Gollop-Wolfgang complex | -| Orphanet:98074 | Gonadal dysgenesis of gynecological interest | -| Orphanet:206484 | Gonadoblastoma | -| Orphanet:1482 | Gonococcal conjunctivitis | -| Orphanet:169105 | Good syndrome | -| Orphanet:65798 | Goodman syndrome | -| Orphanet:376 | Gordon syndrome | -| Orphanet:73 | Gorham-Stout disease | -| Orphanet:377 | Gorlin syndrome | -| Orphanet:2095 | Gorlin-Chaudhry-Moss syndrome | -| Orphanet:39812 | Graft versus host disease | -| Orphanet:505 | Graham Little-Piccardi-Lassueur syndrome | -| Orphanet:79094 | Grange syndrome | -| Orphanet:2097 | Grant syndrome | -| Orphanet:98962 | Granular corneal dystrophy type I | -| Orphanet:98963 | Granular corneal dystrophy type II | -| Orphanet:615943 | Granuloma faciale | -| Orphanet:900 | Granulomatosis with polyangiitis | -| Orphanet:324930 | Granulomatous autoinflammatory syndrome | -| Orphanet:324950 | Granulomatous autoinflammatory syndrome of childhood | -| Orphanet:64722 | Granulomatous mastitis | -| Orphanet:33111 | Granulomatous slack skin | -| Orphanet:721 | Gray platelet syndrome | -| Orphanet:293375 | Grayson-Wilbrandt corneal dystrophy | -| Orphanet:1426 | Greenberg dysplasia | -| Orphanet:380 | Greig cephalopolysyndactyly syndrome | -| Orphanet:381 | Griscelli syndrome | -| Orphanet:79476 | Griscelli syndrome type 1 | -| Orphanet:79477 | Griscelli syndrome type 2 | -| Orphanet:79478 | Griscelli syndrome type 3 | -| Orphanet:314613 | Growing teratoma syndrome | -| Orphanet:391348 | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | -| Orphanet:73273 | Growth delay due to insulin-like growth factor I resistance | -| Orphanet:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | -| Orphanet:3035 | Growth delay-hydrocephaly-lung hypoplasia syndrome | -| Orphanet:541423 | Growth delay-intellectual disability-hepatopathy syndrome | -| Orphanet:181393 | Growth hormone insensitivity syndrome | -| Orphanet:391366 | Growth retardation-mild developmental delay-chronic hepatitis syndrome | -| Orphanet:2101 | Grubben-de Cock-Borghgraef syndrome | -| Orphanet:382 | Guanidinoacetate methyltransferase deficiency | -| Orphanet:2103 | Guillain-Barré syndrome | -| Orphanet:2957 | Guttmacher syndrome | -| Orphanet:99914 | Gynandroblastoma | -| Orphanet:414 | Gyrate atrophy of choroid and retina | -| Orphanet:1532 | Gómez-López-Hernández syndrome | -| Orphanet:168569 | H syndrome | -| Orphanet:73229 | HANAC syndrome | -| Orphanet:2119 | HEC syndrome | -| Orphanet:244242 | HELLP syndrome | -| Orphanet:570438 | HHV-8-associated multicentric Castleman disease | -| Orphanet:443291 | HIV-associated cancer | -| Orphanet:79230 | HJV or HAMP-related hemochromatosis | -| Orphanet:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease | -| Orphanet:55596 | HNRNPDL-related limb-girdle muscular dystrophy D3 | -| Orphanet:391417 | HSD10 disease | -| Orphanet:85295 | HSD10 disease, atypical type | -| Orphanet:391428 | HSD10 disease, infantile type | -| Orphanet:391457 | HSD10 disease, neonatal type | -| Orphanet:482077 | HTRA1-related autosomal dominant cerebral small vessel disease | -| Orphanet:482072 | HTRA1-related cerebral small vessel disease | -| Orphanet:99803 | Haddad syndrome | -| Orphanet:2342 | Haim-Munk syndrome | -| Orphanet:79363 | Hair anomaly | -| Orphanet:300878 | Hairy cell leukemia variant | -| Orphanet:955 | Hajdu-Cheney syndrome | -| Orphanet:2107 | Hall-Riggs syndrome | -| Orphanet:2108 | Hallermann-Streiff syndrome | -| Orphanet:2109 | Hallermann-Streiff-like syndrome | -| Orphanet:2110 | Hallux varus-preaxial polysyndactyly syndrome | -| Orphanet:93946 | Hamel cerebro-palato-cardiac syndrome | -| Orphanet:2438 | Hand-foot-genital syndrome | -| Orphanet:319247 | Hantavirus pulmonary syndrome | -| Orphanet:643549 | Hao-Fountain syndrome | -| Orphanet:500055 | Hao-Fountain syndrome due to 16p13.2 microdeletion | -| Orphanet:643538 | Hao-Fountain syndrome due to USP7 mutation | -| Orphanet:457 | Harlequin ichthyosis | -| Orphanet:199282 | Harlequin syndrome | -| Orphanet:2115 | Harrod syndrome | -| Orphanet:2116 | Hartnup disease | -| Orphanet:2117 | Hartsfield syndrome | -| Orphanet:2118 | Hawkinsinuria | -| Orphanet:163596 | Hb Bart's hydrops fetalis | -| Orphanet:3225 | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome | -| Orphanet:1338 | Heart defect-tongue hamartoma-polysyndactyly syndrome | -| Orphanet:1354 | Heart defects-limb shortening syndrome | -| Orphanet:98716 | Heart position anomaly | -| Orphanet:228184 | Heart-hand syndrome | -| Orphanet:1350 | Heart-hand syndrome type 2 | -| Orphanet:1342 | Heart-hand syndrome type 3 | -| Orphanet:168796 | Heart-hand syndrome, Slovenian type | -| Orphanet:93556 | Heavy chain deposition disease | -| Orphanet:86864 | Heavy chain disease | -| Orphanet:99932 | Heiner syndrome | -| Orphanet:86813 | Helicoid peripapillary chorioretinal degeneration | -| Orphanet:252054 | Hemangioblastoma | -| Orphanet:209016 | Hematological disease associated with an acquired peripheral neuropathy | -| Orphanet:93614 | Hematological disorder with renal involvement | -| Orphanet:562509 | Heme oxygenase-1 deficiency | -| Orphanet:645388 | Hemi-myelomeningocele | -| Orphanet:645393 | Hemi-myeloschisis | -| Orphanet:443070 | Hemicrania continua | -| Orphanet:306741 | Hemidystonia-hemiatrophy syndrome | -| Orphanet:141145 | Hemifacial hyperplasia | -| Orphanet:141148 | Hemifacial myohyperplasia | -| Orphanet:221083 | Hemifacial spasm | -| Orphanet:276280 | Hemihyperplasia-multiple lipomatosis syndrome | -| Orphanet:99802 | Hemimegalencephaly | -| Orphanet:2130 | Hemimelia | -| Orphanet:306669 | Hemiparkinsonism-hemiatrophy syndrome | -| Orphanet:2132 | Hemoglobin C disease | -| Orphanet:231242 | Hemoglobin C-beta-thalassemia syndrome | -| Orphanet:90039 | Hemoglobin D disease | -| Orphanet:2133 | Hemoglobin E disease | -| Orphanet:231249 | Hemoglobin E-beta-thalassemia syndrome | -| Orphanet:93616 | Hemoglobin H disease | -| Orphanet:330032 | Hemoglobin Lepore-beta-thalassemia syndrome | -| Orphanet:330041 | Hemoglobin M disease | -| Orphanet:280615 | Hemoglobinopathy Toms River | -| Orphanet:98372 | Hemolytic anemia due to a disorder of glycolytic enzymes | -| Orphanet:86817 | Hemolytic anemia due to adenylate kinase deficiency | -| Orphanet:98374 | Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder | -| Orphanet:714 | Hemolytic anemia due to diphosphoglycerate mutase deficiency | -| Orphanet:99138 | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | -| Orphanet:712 | Hemolytic anemia due to glucophosphate isomerase deficiency | -| Orphanet:90030 | Hemolytic anemia due to glutathione reductase deficiency | -| Orphanet:98370 | Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies | -| Orphanet:35120 | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | -| Orphanet:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | -| Orphanet:275938 | Hemolytic disease due to fetomaternal alloimmunization | -| Orphanet:275944 | Hemolytic disease of the newborn with Kell alloimmunization | -| Orphanet:357008 | Hemolytic uremic syndrome with DGKE deficiency | -| Orphanet:158032 | Hemophagocytic syndrome | -| Orphanet:448 | Hemophilia | -| Orphanet:98878 | Hemophilia A | -| Orphanet:98879 | Hemophilia B | -| Orphanet:617930 | Hemophilia B Leyden | -| Orphanet:178396 | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | -| Orphanet:340 | Hemorrhagic fever-renal syndrome | -| Orphanet:324632 | Hendra virus infection | -| Orphanet:2136 | Hennekam syndrome | -| Orphanet:2135 | Hennekam-Beemer syndrome | -| Orphanet:3325 | Heparin-induced thrombocytopenia | -| Orphanet:386 | Hepatic cystic hamartoma | -| Orphanet:2031 | Hepatic fibrosis-renal cysts-intellectual disability syndrome | -| Orphanet:890 | Hepatic veno-occlusive disease | -| Orphanet:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | -| Orphanet:402823 | Hepatitis delta | -| Orphanet:449 | Hepatoblastoma | -| Orphanet:54272 | Hepatocellular adenoma | -| Orphanet:137681 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | -| Orphanet:95159 | Hepatoerythropoietic porphyria | -| Orphanet:64743 | Hepatoportal sclerosis | -| Orphanet:86882 | Hepatosplenic T-cell lymphoma | -| Orphanet:168583 | Hereditary North American Indian childhood cirrhosis | -| Orphanet:2907 | Hereditary acrokeratotic poikiloderma | -| Orphanet:444116 | Hereditary amyloidosis | -| Orphanet:85450 | Hereditary amyloidosis with primary renal involvement | -| Orphanet:91378 | Hereditary angioedema | -| Orphanet:100050 | Hereditary angioedema type 1 | -| Orphanet:100051 | Hereditary angioedema type 2 | -| Orphanet:528623 | Hereditary angioedema with C1Inh deficiency | -| Orphanet:528647 | Hereditary angioedema with normal C1Inh | -| Orphanet:599418 | Hereditary angioedema with normal C1Inh not related to F12 or PLG variant | -| Orphanet:289601 | Hereditary arterial and articular multiple calcification syndrome | -| Orphanet:183518 | Hereditary ataxia | -| Orphanet:352657 | Hereditary benign intraepithelial dyskeratosis | -| Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome | -| Orphanet:227535 | Hereditary breast cancer | -| Orphanet:1867 | Hereditary bullous dystrophy, macular type | -| Orphanet:30925 | Hereditary central diabetes insipidus | -| Orphanet:85458 | Hereditary cerebral hemorrhage with amyloidosis | -| Orphanet:676 | Hereditary chronic pancreatitis | -| Orphanet:422526 | Hereditary clear cell renal cell carcinoma | -| Orphanet:98434 | Hereditary combined deficiency of vitamin K-dependent clotting factors | -| Orphanet:972 | Hereditary continuous muscle fiber activity | -| Orphanet:79273 | Hereditary coproporphyria | -| Orphanet:398088 | Hereditary cryohydrocytosis with normal stomatin | -| Orphanet:168577 | Hereditary cryohydrocytosis with reduced stomatin | -| Orphanet:167759 | Hereditary dentin defect | -| Orphanet:26106 | Hereditary diffuse gastric cancer | -| Orphanet:313808 | Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | -| Orphanet:288 | Hereditary elliptocytosis | -| Orphanet:211062 | Hereditary episodic ataxia | -| Orphanet:221043 | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome | -| Orphanet:90045 | Hereditary folate malabsorption | -| Orphanet:469 | Hereditary fructose intolerance | -| Orphanet:423776 | Hereditary gastric cancer | -| Orphanet:53372 | Hereditary geniospasm | -| Orphanet:2024 | Hereditary gingival fibromatosis | -| Orphanet:774 | Hereditary hemorrhagic telangiectasia | -| Orphanet:199285 | Hereditary hypercarotenemia and vitamin A deficiency | -| Orphanet:3197 | Hereditary hyperekplexia | -| Orphanet:163 | Hereditary hyperferritinemia-cataract syndrome | -| Orphanet:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | -| Orphanet:217407 | Hereditary hypotrichosis with recurrent skin vesicles | -| Orphanet:324381 | Hereditary inclusion body myopathy type 4 | -| Orphanet:79091 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | -| Orphanet:397692 | Hereditary isolated aplastic anemia | -| Orphanet:411602 | Hereditary late-onset Parkinson disease | -| Orphanet:523 | Hereditary leiomyomatosis and renal cell cancer | -| Orphanet:621 | Hereditary methemoglobinemia | -| Orphanet:157794 | Hereditary mixed polyposis syndrome | -| Orphanet:64751 | Hereditary motor and sensory neuropathy type 5 | -| Orphanet:90120 | Hereditary motor and sensory neuropathy type 6 | -| Orphanet:90119 | Hereditary motor and sensory neuropathy with acrodystrophy | -| Orphanet:90117 | Hereditary motor and sensory neuropathy, Okinawa type | -| Orphanet:1839 | Hereditary mucoepithelial dysplasia | -| Orphanet:178464 | Hereditary myopathy with early respiratory failure | -| Orphanet:43115 | Hereditary myopathy with lactic acidosis due to ISCU deficiency | -| Orphanet:1062 | Hereditary neurocutaneous malformation | -| Orphanet:456333 | Hereditary neuroendocrine tumor of small intestine | -| Orphanet:640 | Hereditary neuropathy with liability to pressure palsies | -| Orphanet:279943 | Hereditary neutrophilia | -| Orphanet:443909 | Hereditary nonpolyposis colon cancer | -| Orphanet:98671 | Hereditary optic neuropathy | -| Orphanet:30 | Hereditary orotic aciduria | -| Orphanet:79141 | Hereditary painful callosities | -| Orphanet:79357 | Hereditary palmoplantar keratoderma | -| Orphanet:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | -| Orphanet:47044 | Hereditary papillary renal cell carcinoma | -| Orphanet:476102 | Hereditary pediatric Behçet-like disease | -| Orphanet:324924 | Hereditary periodic fever syndrome | -| Orphanet:168615 | Hereditary persistence of alpha-fetoprotein | -| Orphanet:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | -| Orphanet:619233 | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome | -| Orphanet:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | -| Orphanet:29072 | Hereditary pheochromocytoma-paraganglioma | -| Orphanet:222628 | Hereditary poikiloderma | -| Orphanet:158025 | Hereditary progressive mucinous histiocytosis | -| Orphanet:264675 | Hereditary pulmonary alveolar proteinosis | -| Orphanet:94088 | Hereditary renal hypouricemia | -| Orphanet:357027 | Hereditary retinoblastoma | -| Orphanet:221039 | Hereditary sclerosing poikiloderma, Weary type | -| Orphanet:280598 | Hereditary sensorimotor neuropathy with hyperelastic skin | -| Orphanet:140471 | Hereditary sensory and autonomic neuropathy | -| Orphanet:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | -| Orphanet:36386 | Hereditary sensory and autonomic neuropathy type 1 | -| Orphanet:139564 | Hereditary sensory and autonomic neuropathy type 1B | -| Orphanet:970 | Hereditary sensory and autonomic neuropathy type 2 | -| Orphanet:642 | Hereditary sensory and autonomic neuropathy type 4 | -| Orphanet:64752 | Hereditary sensory and autonomic neuropathy type 5 | -| Orphanet:314381 | Hereditary sensory and autonomic neuropathy type 6 | -| Orphanet:391397 | Hereditary sensory and autonomic neuropathy type 7 | -| Orphanet:478664 | Hereditary sensory and autonomic neuropathy type 8 | -| Orphanet:139573 | Hereditary sensory and autonomic neuropathy with deafness and global delay | -| Orphanet:456318 | Hereditary sensory neuropathy-deafness-dementia syndrome | -| Orphanet:685 | Hereditary spastic paraplegia | -| Orphanet:822 | Hereditary spherocytosis | -| Orphanet:98365 | Hereditary stomatocytosis | -| Orphanet:84093 | Hereditary thermosensitive neuropathy | -| Orphanet:480851 | Hereditary thrombocytopenia with early-onset myelofibrosis | -| Orphanet:268322 | Hereditary thrombocytopenia with normal platelets | -| Orphanet:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | -| Orphanet:217467 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | -| Orphanet:3467 | Hereditary xanthinuria | -| Orphanet:275777 | Heritable pulmonary arterial hypertension | -| Orphanet:79430 | Hermansky-Pudlak syndrome | -| Orphanet:183678 | Hermansky-Pudlak syndrome due to AP-3 deficiency | -| Orphanet:231531 | Hermansky-Pudlak syndrome due to BLOC-1 deficiency | -| Orphanet:231512 | Hermansky-Pudlak syndrome due to BLOC-2 deficiency | -| Orphanet:231500 | Hermansky-Pudlak syndrome due to BLOC-3 deficiency | -| Orphanet:2139 | Hernández-Aguirre Negrete syndrome | -| Orphanet:1930 | Herpes simplex virus encephalitis | -| Orphanet:137599 | Herpes simplex virus stromal keratitis | -| Orphanet:208524 | Herpetiform pemphigus | -| Orphanet:450 | Heterotaxia | -| Orphanet:189 | Hidrotic ectodermal dysplasia | -| Orphanet:1808 | Hidrotic ectodermal dysplasia, Christianson-Fourie type | -| Orphanet:1809 | Hidrotic ectodermal dysplasia, Halal type | -| Orphanet:330012 | High altitude pulmonary edema | -| Orphanet:314029 | High bone mass osteogenesis imperfecta | -| Orphanet:480541 | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement | -| Orphanet:363396 | High myopia-sensorineural deafness syndrome | -| Orphanet:251561 | High-grade astrocytoma | -| Orphanet:213777 | High-grade neuroendocrine carcinoma of the cervix uteri | -| Orphanet:213731 | High-grade neuroendocrine carcinoma of the corpus uteri | -| Orphanet:84085 | Hinman syndrome | -| Orphanet:2114 | Hip dysplasia, Beukes type | -| Orphanet:388 | Hirschsprung disease | -| Orphanet:2155 | Hirschsprung disease-deafness-polydactyly syndrome | -| Orphanet:2151 | Hirschsprung disease-ganglioneuroblastoma syndrome | -| Orphanet:2153 | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome | -| Orphanet:2150 | Hirschsprung disease-type D brachydactyly syndrome | -| Orphanet:3283 | His bundle tachycardia | -| Orphanet:2157 | Histidinemia | -| Orphanet:2158 | Histidinuria-renal tubular defect syndrome | -| Orphanet:86896 | Histiocytic sarcoma | -| Orphanet:137675 | Histiocytoid cardiomyopathy | -| Orphanet:390 | Histoplasmosis | -| Orphanet:454718 | Holmes-Adie syndrome | -| Orphanet:79242 | Holocarboxylase synthetase deficiency | -| Orphanet:2162 | Holoprosencephaly | -| Orphanet:2165 | Holoprosencephaly-caudal dysgenesis syndrome | -| Orphanet:2163 | Holoprosencephaly-craniosynostosis syndrome | -| Orphanet:2166 | Holoprosencephaly-postaxial polydactyly syndrome | -| Orphanet:3186 | Holoprosencephaly-radial heart renal anomalies syndrome | -| Orphanet:392 | Holt-Oram syndrome | -| Orphanet:2167 | Holzgreve syndrome | -| Orphanet:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | -| Orphanet:622 | Homocystinuria without methylmalonic aciduria | -| Orphanet:369886 | Homozygous 2p21 microdeletion syndrome | -| Orphanet:391665 | Homozygous familial hypercholesterolemia | -| Orphanet:2744 | Horizontal gaze palsy with progressive scoliosis | -| Orphanet:166412 | Hot water reflex epilepsy | -| Orphanet:99907 | House allergic alveolitis | -| Orphanet:3322 | Hoyeraal-Hreidarsson syndrome | -| Orphanet:228116 | Hughes-Stovin syndrome | -| Orphanet:102024 | Human herpesvirus 8-related disorder | -| Orphanet:438279 | Human infection by orthopoxvirus | -| Orphanet:56970 | Human prion disease | -| Orphanet:294973 | Humeral agenesis/hypoplasia | -| Orphanet:3265 | Humero-radial synostosis | -| Orphanet:3266 | Humero-radio-ulnar synostosis | -| Orphanet:94056 | Humero-ulnar synostosis | -| Orphanet:295215 | Humero-ulnar synostosis, bilateral | -| Orphanet:295213 | Humero-ulnar synostosis, unilateral | -| Orphanet:3383 | Humerus trochlea aplasia | -| Orphanet:97340 | Hunter-McAlpine syndrome | -| Orphanet:399 | Huntington disease | -| Orphanet:157941 | Huntington disease-like 1 | -| Orphanet:98934 | Huntington disease-like 2 | -| Orphanet:157946 | Huntington disease-like 3 | -| Orphanet:158266 | Huntington disease-like syndrome | -| Orphanet:401901 | Huntington disease-like syndrome due to C9ORF72 expansions | -| Orphanet:384 | Huriez syndrome | -| Orphanet:93473 | Hurler syndrome | -| Orphanet:93476 | Hurler-Scheie syndrome | -| Orphanet:740 | Hutchinson-Gilford progeria syndrome | -| Orphanet:498474 | Hyaline fibromatosis syndrome | -| Orphanet:67041 | Hyaluronidase deficiency | -| Orphanet:99927 | Hydatidiform mole | -| Orphanet:2177 | Hydranencephaly | -| Orphanet:330058 | Hydroa vacciniforme | -| Orphanet:364039 | Hydroa vacciniforme-like lymphoma | -| Orphanet:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | -| Orphanet:2186 | Hydrocephalus-blue sclerae-nephropathy syndrome | -| Orphanet:2180 | Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | -| Orphanet:2183 | Hydrocephalus-obesity-hypogonadism syndrome | -| Orphanet:1397 | Hydrocephaly-cerebellar agenesis syndrome | -| Orphanet:2184 | Hydrocephaly-low insertion umbilicus syndrome | -| Orphanet:2181 | Hydrocephaly-tall stature-joint laxity syndrome | -| Orphanet:2189 | Hydrolethalus | -| Orphanet:1041 | Hydrops fetalis | -| Orphanet:528091 | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | -| Orphanet:79155 | Hydroxykynureninuria | -| Orphanet:401 | Hymenolepiasis | -| Orphanet:331223 | Hyper-IgE syndrome | -| Orphanet:101089 | Hyper-IgM syndrome type 2 | -| Orphanet:101090 | Hyper-IgM syndrome type 3 | -| Orphanet:101091 | Hyper-IgM syndrome type 4 | -| Orphanet:101092 | Hyper-IgM syndrome type 5 | -| Orphanet:183663 | Hyper-IgM syndrome with susceptibility to opportunistic infections | -| Orphanet:183666 | Hyper-IgM syndrome without susceptibility to opportunistic infections | -| Orphanet:309147 | Hyper-beta-alaninemia | -| Orphanet:181428 | Hyperalphalipoproteinemia | -| Orphanet:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | -| Orphanet:401948 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | -| Orphanet:168588 | Hyperandrogenism due to cortisone reductase deficiency | -| Orphanet:276405 | Hyperbiliverdinemia | -| Orphanet:209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | -| Orphanet:83639 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | -| Orphanet:476403 | Hypercontractile muscle stiffness syndrome | -| Orphanet:306773 | Hyperekplexia | -| Orphanet:163985 | Hyperekplexia-epilepsy syndrome | -| Orphanet:2410 | Hypergonadotropic hypogonadism-cataract syndrome | -| Orphanet:343 | Hyperimmunoglobulinemia D with periodic fever | -| Orphanet:443095 | Hyperinsulinemic hypoglycaemia | -| Orphanet:324575 | Hyperinsulinism due to HNF1A deficiency | -| Orphanet:263458 | Hyperinsulinism due to INSR deficiency | -| Orphanet:276556 | Hyperinsulinism due to UCP2 deficiency | -| Orphanet:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | -| Orphanet:35878 | Hyperinsulinism-hyperammonemia syndrome | -| Orphanet:682 | Hyperkalemic periodic paralysis | -| Orphanet:409 | Hyperkeratosis lenticularis perstans | -| Orphanet:1336 | Hyperkeratosis-hyperpigmentation syndrome | -| Orphanet:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | -| Orphanet:2203 | Hyperlysinemia | -| Orphanet:289891 | Hypermethioninemia due to glycine N-methyltransferase deficiency | -| Orphanet:289290 | Hypermethioninemia encephalopathy due to adenosine kinase deficiency | -| Orphanet:285 | Hypermobile Ehlers-Danlos syndrome | -| Orphanet:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | -| Orphanet:3416 | Hyperostosis corticalis generalisata | -| Orphanet:443098 | Hyperostosis cranialis interna | -| Orphanet:99880 | Hyperparathyroidism-jaw tumor syndrome | -| Orphanet:295002 | Hyperphalangy | -| Orphanet:508523 | Hyperphenylalaninemia due to DNAJC12 deficiency | -| Orphanet:238583 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | -| Orphanet:247262 | Hyperphosphatasia-intellectual disability syndrome | -| Orphanet:79375 | Hyperpigmentation of the skin | -| Orphanet:419 | Hyperprolinemia type 1 | -| Orphanet:79101 | Hyperprolinemia type 2 | -| Orphanet:2211 | Hypertelorism-hypospadias-polysyndactyly syndrome | -| Orphanet:2213 | Hypertelorism-microtia-facial clefting syndrome | -| Orphanet:293958 | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome | -| Orphanet:88660 | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | -| Orphanet:2220 | Hypertrichosis cubiti | -| Orphanet:2222 | Hypertrichosis lanuginosa congenita | -| Orphanet:324525 | Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation | -| Orphanet:90282 | Hypertrophic or verrucous lupus erythematosus | -| Orphanet:2224 | Hypertryptophanemia | -| Orphanet:363694 | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | -| Orphanet:251523 | Hyperzincemia and hypercalprotectinemia | -| Orphanet:276429 | Hypnic headache | -| Orphanet:2435 | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome | -| Orphanet:31153 | Hypoalphalipoproteinemia | -| Orphanet:31154 | Hypobetalipoproteinemia | -| Orphanet:289103 | Hypocalcemic rickets | -| Orphanet:289157 | Hypocalcemic vitamin D-dependent rickets | -| Orphanet:93160 | Hypocalcemic vitamin D-resistant rickets | -| Orphanet:100032 | Hypocalcified amelogenesis imperfecta | -| Orphanet:93297 | Hypochondrogenesis | -| Orphanet:429 | Hypochondroplasia | -| Orphanet:36412 | Hypocomplementemic urticarial vasculitis | -| Orphanet:2228 | Hypodontia-dysplasia of nails syndrome | -| Orphanet:989 | Hypoglossia-hypodactyly syndrome | -| Orphanet:156212 | Hypoglossia/aglossia | -| Orphanet:2233 | Hypogonadism-mitral valve prolapse-intellectual disability syndrome | -| Orphanet:2230 | Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome | -| Orphanet:2235 | Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | -| Orphanet:293967 | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | -| Orphanet:528105 | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome | -| Orphanet:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | -| Orphanet:238468 | Hypohidrotic ectodermal dysplasia | -| Orphanet:98813 | Hypohidrotic ectodermal dysplasia with immunodeficiency | -| Orphanet:1882 | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome | -| Orphanet:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | -| Orphanet:681 | Hypokalemic periodic paralysis | -| Orphanet:1790 | Hypomandibular faciocranial dysostosis | -| Orphanet:100033 | Hypomaturation amelogenesis imperfecta | -| Orphanet:100034 | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | -| Orphanet:137639 | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome | -| Orphanet:2680 | Hypomyelination neuropathy-arthrogryposis syndrome | -| Orphanet:599376 | Hypomyelination of early myelinating structures | -| Orphanet:139441 | Hypomyelination with atrophy of basal ganglia and cerebellum | -| Orphanet:363412 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | -| Orphanet:447893 | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome | -| Orphanet:85163 | Hypomyelination-congenital cataract syndrome | -| Orphanet:88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | -| Orphanet:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | -| Orphanet:436 | Hypophosphatasia | -| Orphanet:437 | Hypophosphatemic rickets | -| Orphanet:79376 | Hypopigmentation of the skin | -| Orphanet:324561 | Hypopigmentation-punctate palmoplantar keratoderma syndrome | -| Orphanet:99058 | Hypoplasia of the mitral valve annulus | -| Orphanet:722 | Hypoplasminogenemia | -| Orphanet:100031 | Hypoplastic amelogenesis imperfecta | -| Orphanet:2248 | Hypoplastic left heart syndrome | -| Orphanet:293864 | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome | -| Orphanet:98723 | Hypoplastic right heart syndrome | -| Orphanet:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | -| Orphanet:2261 | Hypospadias-intellectual disability, Goldblatt type syndrome | -| Orphanet:443101 | Hypothalamic adipsic hypernatraemia syndrome | -| Orphanet:86906 | Hypothalamic hamartomas with gelastic seizures | -| Orphanet:90673 | Hypothyroidism due to TSH receptor mutations | -| Orphanet:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | -| Orphanet:137908 | Hypotonia with lactic acidemia and hyperammonemia | -| Orphanet:163690 | Hypotonia-cystinuria syndrome | -| Orphanet:79507 | Hypotonia-failure to thrive-microcephaly syndrome | -| Orphanet:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | -| Orphanet:55654 | Hypotrichosis simplex | -| Orphanet:90368 | Hypotrichosis simplex of the scalp | -| Orphanet:1573 | Hypotrichosis with juvenile macular degeneration | -| Orphanet:330029 | Hypotrichosis-deafness syndrome | -| Orphanet:2266 | Hypotrichosis-intellectual disability, Lopes type | -| Orphanet:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | -| Orphanet:307936 | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | -| Orphanet:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | -| Orphanet:2268 | ICF syndrome | -| Orphanet:477661 | IL21-related infantile inflammatory bowel disease | -| Orphanet:85173 | IMAGe syndrome | -| Orphanet:597623 | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome | -| Orphanet:209981 | IRIDA syndrome | -| Orphanet:209943 | IRVAN syndrome | -| Orphanet:352479 | ISPD-related limb-girdle muscular dystrophy R20 | -| Orphanet:439254 | ITM2B amyloidosis | -| Orphanet:457375 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | -| Orphanet:2307 | IVIC syndrome | -| Orphanet:576379 | Iatrogenic Creutzfeldt-Jakob disease | -| Orphanet:254509 | Iatrogenic botulism | -| Orphanet:79354 | Ichthyosis | -| Orphanet:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | -| Orphanet:79503 | Ichthyosis hystrix of Curth-Macklin | -| Orphanet:2269 | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | -| Orphanet:2274 | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | -| Orphanet:91132 | Ichthyosis-hypotrichosis syndrome | -| Orphanet:2278 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | -| Orphanet:2272 | Ichthyosis-oral and digital anomalies syndrome | -| Orphanet:88621 | Ichthyosis-prematurity syndrome | -| Orphanet:363992 | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome | -| Orphanet:228000 | Idiopathic CD4 lymphocytopenia | -| Orphanet:930 | Idiopathic achalasia | -| Orphanet:724 | Idiopathic acute eosinophilic pneumonia | -| Orphanet:139423 | Idiopathic acute transverse myelitis | -| Orphanet:88 | Idiopathic aplastic anemia | -| Orphanet:399307 | Idiopathic avascular necrosis | -| Orphanet:171684 | Idiopathic bilateral vestibulopathy | -| Orphanet:60033 | Idiopathic bronchiectasis | -| Orphanet:1320 | Idiopathic camptocormia | -| Orphanet:648919 | Idiopathic catatonia | -| Orphanet:2902 | Idiopathic chronic eosinophilic pneumonia | -| Orphanet:95717 | Idiopathic congenital hypothyroidism | -| Orphanet:209919 | Idiopathic copper-associated cirrhosis | -| Orphanet:447881 | Idiopathic dropped head syndrome | -| Orphanet:480512 | Idiopathic ductopenia | -| Orphanet:247724 | Idiopathic eosinophilic myositis | -| Orphanet:558411 | Idiopathic gastroparesis | -| Orphanet:329874 | Idiopathic giant cell myocarditis | -| Orphanet:86908 | Idiopathic hemiconvulsion-hemiplegia syndrome | -| Orphanet:2197 | Idiopathic hypercalciuria | -| Orphanet:3260 | Idiopathic hypereosinophilic syndrome | -| Orphanet:33208 | Idiopathic hypersomnia | -| Orphanet:98482 | Idiopathic inflammatory myopathy | -| Orphanet:238624 | Idiopathic intracranial hypertension | -| Orphanet:95707 | Idiopathic isolated micropenis | -| Orphanet:85193 | Idiopathic juvenile osteoporosis | -| Orphanet:314017 | Idiopathic linear interstitial keratitis | -| Orphanet:90158 | Idiopathic localized lipodystrophy | -| Orphanet:353344 | Idiopathic macular telangiectasia type 1 | -| Orphanet:353351 | Idiopathic macular telangiectasia type 3 | -| Orphanet:84065 | Idiopathic malabsorption due to bile acid synthesis defects | -| Orphanet:570431 | Idiopathic multicentric Castleman disease | -| Orphanet:567550 | Idiopathic multidrug-resistant nephrotic syndrome | -| Orphanet:45452 | Idiopathic neonatal atrial flutter | -| Orphanet:567544 | Idiopathic non-lupus full-house nephropathy | -| Orphanet:499107 | Idiopathic optic perineuritis | -| Orphanet:166475 | Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes | -| Orphanet:280921 | Idiopathic panuveitis | -| Orphanet:480524 | Idiopathic peliosis hepatis | -| Orphanet:444316 | Idiopathic phalangeal acro-osteolysis | -| Orphanet:494428 | Idiopathic pleuroparenchymal fibroelastosis | -| Orphanet:280917 | Idiopathic posterior uveitis | -| Orphanet:647823 | Idiopathic pregnancy-associated osteoporosis | -| Orphanet:275766 | Idiopathic pulmonary arterial hypertension | -| Orphanet:1676 | Idiopathic pulmonary artery dilatation | -| Orphanet:2032 | Idiopathic pulmonary fibrosis | -| Orphanet:99931 | Idiopathic pulmonary hemosiderosis | -| Orphanet:251307 | Idiopathic recurrent pericarditis | -| Orphanet:276174 | Idiopathic recurrent stupor | -| Orphanet:648675 | Idiopathic scleritis | -| Orphanet:458718 | Idiopathic spontaneous coronary artery dissection | -| Orphanet:567548 | Idiopathic steroid-resistant nephrotic syndrome | -| Orphanet:567552 | Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy | -| Orphanet:69061 | Idiopathic steroid-sensitive nephrotic syndrome | -| Orphanet:567546 | Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance | -| Orphanet:99858 | Idiopathic syringomyelia | -| Orphanet:79153 | Idiopathic trachyonychia | -| Orphanet:209956 | Idiopathic uveal effusion syndrome | -| Orphanet:228140 | Idiopathic ventricular fibrillation, non Brugada type | -| Orphanet:422 | Idiopathic/heritable pulmonary arterial hypertension | -| Orphanet:555905 | IgA pemphigus | -| Orphanet:449400 | IgG4-related aortitis | -| Orphanet:79078 | IgG4-related dacryoadenitis and sialadenitis | -| Orphanet:284264 | IgG4-related disease | -| Orphanet:449395 | IgG4-related kidney disease | -| Orphanet:63999 | IgG4-related mediastinitis | -| Orphanet:238593 | IgG4-related mesenteritis | -| Orphanet:449563 | IgG4-related ophthalmic disease | -| Orphanet:449427 | IgG4-related pachymeningitis | -| Orphanet:49041 | IgG4-related retroperitoneal fibrosis | -| Orphanet:447764 | IgG4-related sclerosing cholangitis | -| Orphanet:449432 | IgG4-related submandibular gland disease | -| Orphanet:596448 | IgG4-related systemic disease | -| Orphanet:64744 | IgG4-related thyroid disease | -| Orphanet:100078 | Ileal neuroendocrine tumor | -| Orphanet:35858 | Imerslund-Gräsbeck syndrome | -| Orphanet:42062 | Iminoglycinuria | -| Orphanet:156149 | Immune complex mediated vasculitis | -| Orphanet:619941 | Immune deficiency due to impaired neutrophil phagocytosis and migration | -| Orphanet:79391 | Immune deficiency with skin involvement | -| Orphanet:169361 | Immune dysregulation disease with immunodeficiency | -| Orphanet:238569 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | -| Orphanet:529977 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome | -| Orphanet:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | -| Orphanet:364013 | Immune hydrops fetalis | -| Orphanet:3002 | Immune thrombocytopenia | -| Orphanet:464764 | Immune-mediated acquired neuromuscular junction disease | -| Orphanet:623638 | Immune-mediated cerebellar ataxia | -| Orphanet:206569 | Immune-mediated necrotizing myopathy | -| Orphanet:648681 | Immune-mediated scleritis | -| Orphanet:93585 | Immune-mediated thrombotic thrombocytopenic purpura | -| Orphanet:169349 | Immuno-osseous dysplasia | -| Orphanet:34592 | Immunodeficiency by defective expression of MHC class I | -| Orphanet:572 | Immunodeficiency by defective expression of MHC class II | -| Orphanet:169100 | Immunodeficiency due to CD25 deficiency | -| Orphanet:331187 | Immunodeficiency due to MASP-2 deficiency | -| Orphanet:169147 | Immunodeficiency due to a classical component pathway complement deficiency | -| Orphanet:459345 | Immunodeficiency due to a complement cascade component deficiency | -| Orphanet:101992 | Immunodeficiency due to a complement cascade protein anomaly | -| Orphanet:459348 | Immunodeficiency due to a complement regulatory deficiency | -| Orphanet:169150 | Immunodeficiency due to a late component of complement deficiency | -| Orphanet:331220 | Immunodeficiency due to absence of thymus | -| Orphanet:331190 | Immunodeficiency due to ficolin3 deficiency | -| Orphanet:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | -| Orphanet:70593 | Immunodeficiency due to selective anti-polysaccharide antibody deficiency | -| Orphanet:101977 | Immunodeficiency predominantly affecting antibody production | -| Orphanet:200421 | Immunodeficiency with factor H anomaly | -| Orphanet:200418 | Immunodeficiency with factor I anomaly | -| Orphanet:331232 | Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | -| Orphanet:761 | Immunoglobulin A vasculitis | -| Orphanet:169110 | Immunoglobulin heavy chain deficiency | -| Orphanet:329903 | Immunoglobulin-mediated membranoproliferative glomerulonephritis | -| Orphanet:97567 | Immunotactoid glomerulopathy | -| Orphanet:641350 | Immunotherapy induced hypophysitis | -| Orphanet:2759 | Imperforate oropharynx-costovertebral anomalies syndrome | -| Orphanet:641343 | Imprinting disorders | -| Orphanet:45453 | Incessant infant ventricular tachycardia | -| Orphanet:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | -| Orphanet:611 | Inclusion body myositis | -| Orphanet:206662 | Inclusion myopathy | -| Orphanet:596941 | Incomplete septal cirrhosis | -| Orphanet:464 | Incontinentia pigmenti | -| Orphanet:158019 | Indeterminate cell histiocytosis | -| Orphanet:98848 | Indolent systemic mastocytosis | -| Orphanet:1909 | Indomethacin embryofetopathy | -| Orphanet:70587 | Infant acute respiratory distress syndrome | -| Orphanet:178478 | Infant botulism | -| Orphanet:206436 | Infantile Krabbe disease | -| Orphanet:772 | Infantile Refsum disease | -| Orphanet:70590 | Infantile apnea | -| Orphanet:1576 | Infantile bilateral striatal necrosis | -| Orphanet:313850 | Infantile cerebellar-retinal degeneration | -| Orphanet:402364 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | -| Orphanet:1313 | Infantile choroidocerebral calcification syndrome | -| Orphanet:31709 | Infantile convulsions and choreoathetosis | -| Orphanet:199267 | Infantile digital fibromatosis | -| Orphanet:238455 | Infantile dystonia-parkinsonism | -| Orphanet:98258 | Infantile epilepsy syndrome | -| Orphanet:364063 | Infantile epileptic-dyskinetic encephalopathy | -| Orphanet:289860 | Infantile glycine encephalopathy | -| Orphanet:210589 | Infantile hemangioma of rare localization | -| Orphanet:352563 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | -| Orphanet:247651 | Infantile hypophosphatasia | -| Orphanet:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | -| Orphanet:565788 | Infantile inflammatory bowel disease with neurological involvement | -| Orphanet:247165 | Infantile mercury poisoning | -| Orphanet:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | -| Orphanet:2591 | Infantile myofibromatosis | -| Orphanet:93591 | Infantile nephronophthisis | -| Orphanet:411629 | Infantile nephropathic cystinosis | -| Orphanet:35069 | Infantile neuroaxonal dystrophy | -| Orphanet:641353 | Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome | -| Orphanet:79263 | Infantile neuronal ceroid lipofuscinosis | -| Orphanet:77292 | Infantile neurovisceral acid sphingomyelinase deficiency | -| Orphanet:251304 | Infantile onset panniculitis with uveitis and systemic granulomatosis | -| Orphanet:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | -| Orphanet:3451 | Infantile spasms syndrome | -| Orphanet:3173 | Infantile spasms-broad thumbs syndrome | -| Orphanet:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | -| Orphanet:2176 | Infantile systemic hyalinosis | -| Orphanet:1145 | Infantile-onset X-linked spinal muscular atrophy | -| Orphanet:293168 | Infantile-onset ascending hereditary spastic paralysis | -| Orphanet:284332 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | -| Orphanet:457205 | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome | -| Orphanet:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | -| Orphanet:391316 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | -| Orphanet:500062 | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | -| Orphanet:572428 | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia | -| Orphanet:1186 | Infantile-onset spinocerebellar ataxia | -| Orphanet:544482 | Infection-related hemolytic uremic syndrome | -| Orphanet:279922 | Infectious anterior uveitis | -| Orphanet:98010 | Infectious disease of the nervous system | -| Orphanet:98542 | Infectious disease with dementia | -| Orphanet:166490 | Infectious disease with epilepsy | -| Orphanet:206613 | Infectious disease with peripheral neuropathy | -| Orphanet:232035 | Infectious embryofetopathy | -| Orphanet:98252 | Infectious encephalitis | -| Orphanet:137593 | Infectious epithelial keratitis | -| Orphanet:279925 | Infectious panuveitis | -| Orphanet:279919 | Infectious posterior uveitis | -| Orphanet:648665 | Infectious scleritis | -| Orphanet:206988 | Infectious, fungal or parasitic myopathy | -| Orphanet:289347 | Infective dermatitis associated with HTLV-1 | -| Orphanet:570762 | Infective endocarditis | -| Orphanet:519278 | Infective keratitis | -| Orphanet:99123 | Inferior vena cava interruption without azygos continuation | -| Orphanet:166484 | Inflammatory and autoimmune disease with epilepsy | -| Orphanet:529980 | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome | -| Orphanet:79466 | Inflammatory linear verrucous epidermal nevus | -| Orphanet:178342 | Inflammatory myofibroblastic tumor | -| Orphanet:247718 | Inflammatory myopathy with abundant macrophages | -| Orphanet:90003 | Inflammatory pseudotumor of the liver | -| Orphanet:519264 | Inflammatory/autoimmune disorder involving the lacrimal system | -| Orphanet:238305 | Infundibulo-neurohypophysitis | -| Orphanet:247257 | Inhalational anthrax | -| Orphanet:254504 | Inhalational botulism | -| Orphanet:282166 | Inherited Creutzfeldt-Jakob disease | -| Orphanet:319465 | Inherited acute myeloid leukemia | -| Orphanet:140162 | Inherited cancer-predisposing syndrome | -| Orphanet:319462 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | -| Orphanet:210141 | Inherited congenital spastic tetraplegia | -| Orphanet:425003 | Inherited digestive cancer-predisposing syndrome | -| Orphanet:79361 | Inherited epidermolysis bullosa | -| Orphanet:589746 | Inherited gynecological cancer-predisposing syndrome | -| Orphanet:619340 | Inherited hematologic cancer-predisposing syndrome | -| Orphanet:280400 | Inherited human prion disease | -| Orphanet:183435 | Inherited ichthyosis | -| Orphanet:281085 | Inherited ichthyosis syndromic form | -| Orphanet:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | -| Orphanet:252190 | Inherited nervous system cancer-predisposing syndrome | -| Orphanet:281082 | Inherited non-syndromic ichthyosis | -| Orphanet:319328 | Inherited renal cancer-predisposing syndrome | -| Orphanet:71862 | Inherited retinal disorder | -| Orphanet:63259 | Iniencephaly | -| Orphanet:411593 | Insulin autoimmune syndrome | -| Orphanet:2297 | Insulin-resistance syndrome type A | -| Orphanet:2298 | Insulin-resistance syndrome type B | -| Orphanet:97279 | Insulinoma | -| Orphanet:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | -| Orphanet:166108 | Intellectual disability, Birk-Barel type | -| Orphanet:3079 | Intellectual disability, Buenos-Aires type | -| Orphanet:3080 | Intellectual disability, Wolff type | -| Orphanet:289483 | Intellectual disability-alacrima-achalasia syndrome | -| Orphanet:529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | -| Orphanet:3041 | Intellectual disability-balding-patella luxation-acromicria syndrome | -| Orphanet:364577 | Intellectual disability-brachydactyly-Pierre Robin syndrome | -| Orphanet:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | -| Orphanet:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | -| Orphanet:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | -| Orphanet:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | -| Orphanet:3454 | Intellectual disability-developmental delay-contractures syndrome | -| Orphanet:3044 | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome | -| Orphanet:633035 | Intellectual disability-early-onset cataract-microcephaly syndrome | -| Orphanet:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | -| Orphanet:436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome | -| Orphanet:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | -| Orphanet:370010 | Intellectual disability-facial dysmorphism-hand anomalies syndrome | -| Orphanet:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | -| Orphanet:1495 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | -| Orphanet:314575 | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | -| Orphanet:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | -| Orphanet:457365 | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome | -| Orphanet:3068 | Intellectual disability-myopathy-short stature-endocrine defect syndrome | -| Orphanet:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | -| Orphanet:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | -| Orphanet:3082 | Intellectual disability-polydactyly-uncombable hair syndrome | -| Orphanet:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | -| Orphanet:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | -| Orphanet:369950 | Intellectual disability-seizures-macrocephaly-obesity syndrome | -| Orphanet:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | -| Orphanet:3074 | Intellectual disability-short stature-hypertelorism syndrome | -| Orphanet:1891 | Intellectual disability-spasticity-ectrodactyly syndrome | -| Orphanet:363528 | Intellectual disability-strabismus syndrome | -| Orphanet:1478 | Interatrial communication | -| Orphanet:294927 | Intercalary limb defects | -| Orphanet:86900 | Interdigitating dendritic cell sarcoma | -| Orphanet:476123 | Intermediate Charcot-Marie-Tooth disease | -| Orphanet:99989 | Intermediate DEND syndrome | -| Orphanet:576242 | Intermediate atrioventricular septal defect | -| Orphanet:646113 | Intermediate collagen VI-related muscular dystrophy | -| Orphanet:508529 | Intermediate epidermolysis bullosa simplex with cardiomyopathy | -| Orphanet:79402 | Intermediate generalized junctional epidermolysis bullosa | -| Orphanet:268162 | Intermediate maple syrup urine disease | -| Orphanet:171433 | Intermediate nemaline myopathy | -| Orphanet:210110 | Intermediate osteopetrosis | -| Orphanet:309331 | Intermediate severe Salla disease | -| Orphanet:279914 | Intermediate uveitis | -| Orphanet:329967 | Intermittent hydrarthrosis | -| Orphanet:268173 | Intermittent maple syrup urine disease | -| Orphanet:981 | Internal carotid absence | -| Orphanet:37202 | Interstitial cystitis | -| Orphanet:79099 | Interstitial granulomatous dermatitis with arthritis | -| Orphanet:440402 | Interstitial lung disease due to ABCA3 deficiency | -| Orphanet:440392 | Interstitial lung disease due to SP-C deficiency | -| Orphanet:306504 | Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome | -| Orphanet:99092 | Interventricular septum aneurysm | -| Orphanet:178481 | Intestinal botulism | -| Orphanet:104005 | Intestinal disease due to fat malabsorption | -| Orphanet:104004 | Intestinal disease due to vitamin absorption anomaly | -| Orphanet:36204 | Intestinal lymphangiectasia | -| Orphanet:314376 | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | -| Orphanet:137622 | Intractable diarrhea-choanal atresia-eye anomalies syndrome | -| Orphanet:424058 | Intraductal papillary mucinous carcinoma of pancreas | -| Orphanet:580572 | Intraductal tubulopapillary neoplasm of pancreas | -| Orphanet:69665 | Intrahepatic cholestasis of pregnancy | -| Orphanet:280802 | Intralobar congenital pulmonary sequestration | -| Orphanet:645359 | Intramedullary non-dysraphic spinal cord lipoma | -| Orphanet:100003 | Intraneural perineurioma | -| Orphanet:268139 | Intraocular medulloepithelioma | -| Orphanet:508512 | Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome | -| Orphanet:436144 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | -| Orphanet:98839 | Intravascular large B-cell lymphoma | -| Orphanet:636945 | Invasive Candidiasis | -| Orphanet:99925 | Invasive mole | -| Orphanet:324648 | Invasive non-typhoidal salmonellosis | -| Orphanet:633124 | Invasive scopulariopsis infection | -| Orphanet:329324 | Inverse Klippel-Trénaunay syndrome | -| Orphanet:98951 | Inverse Marcus-Gunn phenomenon | -| Orphanet:3306 | Inverted duplicated chromosome 15 syndrome | -| Orphanet:64734 | Iridocorneal endothelial syndrome | -| Orphanet:84142 | Isaacs syndrome | -| Orphanet:85200 | Ischiovertebral syndrome | -| Orphanet:79159 | Isobutyryl-CoA dehydrogenase deficiency | -| Orphanet:96325 | Isochromosome Y | -| Orphanet:98797 | Isochromosomy Yp | -| Orphanet:98798 | Isochromosomy Yq | -| Orphanet:254913 | Isolated ATP synthase deficiency | -| Orphanet:217 | Isolated Dandy-Walker malformation | -| Orphanet:269212 | Isolated Dandy-Walker malformation with hydrocephalus | -| Orphanet:269215 | Isolated Dandy-Walker malformation without hydrocephalus | -| Orphanet:2345 | Isolated Klippel-Feil syndrome | -| Orphanet:718 | Isolated Pierre Robin syndrome | -| Orphanet:229717 | Isolated agammaglobulinemia | -| Orphanet:440987 | Isolated agenesis of gallbladder | -| Orphanet:268868 | Isolated amyelia | -| Orphanet:563609 | Isolated anencephaly | -| Orphanet:1048 | Isolated anencephaly/exencephaly | -| Orphanet:250923 | Isolated aniridia | -| Orphanet:91397 | Isolated ankyloblepharon filiforme adnatum | -| Orphanet:3387 | Isolated anterior cervical hypertrichosis | -| Orphanet:268936 | Isolated arhinencephaly | -| Orphanet:1134 | Isolated arrhinia | -| Orphanet:206599 | Isolated asymptomatic elevation of creatine phosphokinase | -| Orphanet:199326 | Isolated autosomal dominant hypomagnesemia, Glaudemans type | -| Orphanet:269221 | Isolated bilateral hemispheric cerebellar hypoplasia | -| Orphanet:30391 | Isolated biliary atresia | -| Orphanet:519390 | Isolated blepharochalasis | -| Orphanet:158778 | Isolated bone marrow mastocytosis | -| Orphanet:1398 | Isolated cerebellar agenesis | -| Orphanet:269203 | Isolated cerebellar vermis agenesis | -| Orphanet:199630 | Isolated cerebellar vermis hypoplasia | -| Orphanet:209908 | Isolated childhood apraxia of speech | -| Orphanet:519300 | Isolated chorioretinal dystrophy | -| Orphanet:199302 | Isolated cleft lip | -| Orphanet:2609 | Isolated complex I deficiency | -| Orphanet:1460 | Isolated complex III deficiency | -| Orphanet:289465 | Isolated congenital adermatoglyphia | -| Orphanet:563951 | Isolated congenital aglossia | -| Orphanet:91416 | Isolated congenital alacrima | -| Orphanet:79143 | Isolated congenital anonychia | -| Orphanet:88620 | Isolated congenital anosmia | -| Orphanet:162526 | Isolated congenital auditory ossicle malformation | -| Orphanet:180188 | Isolated congenital breast hypoplasia/aplasia | -| Orphanet:217059 | Isolated congenital digital clubbing | -| Orphanet:99171 | Isolated congenital ectropion | -| Orphanet:519386 | Isolated congenital entropion | -| Orphanet:485426 | Isolated congenital hepatic fibrosis | -| Orphanet:563954 | Isolated congenital hypoglossia | -| Orphanet:141152 | Isolated congenital hypoglossia/aglossia | -| Orphanet:238666 | Isolated congenital hypogonadotropic hypogonadism | -| Orphanet:91489 | Isolated congenital megalocornea | -| Orphanet:199642 | Isolated congenital microcephaly | -| Orphanet:162516 | Isolated congenital nasal pyriform aperture stenosis | -| Orphanet:79144 | Isolated congenital onychodysplasia | -| Orphanet:295032 | Isolated congenital radial head dislocation | -| Orphanet:91490 | Isolated congenital sclerocornea | -| Orphanet:141214 | Isolated congenital syngnathia | -| Orphanet:216718 | Isolated congenitally uncorrected transposition of the great arteries | -| Orphanet:477797 | Isolated constitutional thrombocytopenia | -| Orphanet:200 | Isolated corpus callosum agenesis | -| Orphanet:91396 | Isolated cryptophthalmia | -| Orphanet:254905 | Isolated cytochrome C oxidase deficiency | -| Orphanet:248340 | Isolated delta-storage pool disease | -| Orphanet:307148 | Isolated diffuse palmoplantar keratoderma | -| Orphanet:99177 | Isolated distichiasis | -| Orphanet:156159 | Isolated dystonia | -| Orphanet:1885 | Isolated ectopia lentis | -| Orphanet:199647 | Isolated encephalocele | -| Orphanet:93928 | Isolated epispadias | -| Orphanet:563612 | Isolated exencephaly | -| Orphanet:603515 | Isolated female hypospadias | -| Orphanet:645325 | Isolated filum lipoma | -| Orphanet:65683 | Isolated focal cortical dysplasia | -| Orphanet:268961 | Isolated focal cortical dysplasia type I | -| Orphanet:268994 | Isolated focal cortical dysplasia type II | -| Orphanet:269001 | Isolated focal cortical dysplasia type IIa | -| Orphanet:269008 | Isolated focal cortical dysplasia type IIb | -| Orphanet:268973 | Isolated focal cortical dysplasia type Ia | -| Orphanet:268980 | Isolated focal cortical dysplasia type Ib | -| Orphanet:268987 | Isolated focal cortical dysplasia type Ic | -| Orphanet:448264 | Isolated focal non-epidermolytic palmoplantar keratoderma | -| Orphanet:307846 | Isolated focal palmoplantar keratoderma | -| Orphanet:52901 | Isolated follicle stimulating hormone deficiency | -| Orphanet:519398 | Isolated foveal hypoplasia | -| Orphanet:468666 | Isolated generalized anhidrosis with normal sweat glands | -| Orphanet:408 | Isolated glycerol kinase deficiency | -| Orphanet:231662 | Isolated growth hormone deficiency type IA | -| Orphanet:231671 | Isolated growth hormone deficiency type IB | -| Orphanet:231679 | Isolated growth hormone deficiency type II | -| Orphanet:231692 | Isolated growth hormone deficiency type III | -| Orphanet:79366 | Isolated hair shaft abnormality | -| Orphanet:2128 | Isolated hemihyperplasia | -| Orphanet:306527 | Isolated hereditary congenital facial paralysis | -| Orphanet:220452 | Isolated hereditary giant platelet disorder | -| Orphanet:542657 | Isolated hyperchlorhidrosis | -| Orphanet:520817 | Isolated inherited retinal disorder | -| Orphanet:519392 | Isolated iridoschisis | -| Orphanet:649029 | Isolated left bronchial isomerism | -| Orphanet:1084 | Isolated lissencephaly type 1 without known genetic defects | -| Orphanet:519302 | Isolated macular dystrophy | -| Orphanet:268920 | Isolated megalencephaly | -| Orphanet:519402 | Isolated megalopapilla | -| Orphanet:590539 | Isolated melanotic schwannoma | -| Orphanet:583861 | Isolated mesenteric vein thrombosis | -| Orphanet:647782 | Isolated micronodular adrenocortical disease | -| Orphanet:519396 | Isolated microspherophakia | -| Orphanet:79369 | Isolated nail anomaly | -| Orphanet:480556 | Isolated neonatal sclerosing cholangitis | -| Orphanet:637064 | Isolated optic nerve aplasia | -| Orphanet:637061 | Isolated optic nerve hypoplasia | -| Orphanet:499096 | Isolated optic neuritis | -| Orphanet:592888 | Isolated optic neuritis with anti-MOG antibodies | -| Orphanet:592885 | Isolated optic neuritis without anti-MOG antibodies | -| Orphanet:166119 | Isolated osteopoikilosis | -| Orphanet:254846 | Isolated oxidative phosphorylation complex disorder | -| Orphanet:269209 | Isolated partial cerebellar vermis agenesis | -| Orphanet:96269 | Isolated partial vaginal agenesis | -| Orphanet:99885 | Isolated permanent neonatal diabetes mellitus | -| Orphanet:647794 | Isolated persistent urogenital sinus | -| Orphanet:2924 | Isolated polycystic liver disease | -| Orphanet:268810 | Isolated posterior meningocele | -| Orphanet:647772 | Isolated primary pigmented nodular adrenocortical disease | -| Orphanet:264691 | Isolated pulmonary capillaritis | -| Orphanet:2338 | Isolated punctate palmoplantar keratoderma | -| Orphanet:439 | Isolated right ventricular hypoplasia | -| Orphanet:440713 | Isolated sedoheptulokinase deficiency | -| Orphanet:583856 | Isolated splenic vein thrombosis | -| Orphanet:457083 | Isolated splenogonadal fusion | -| Orphanet:2440 | Isolated split hand-split foot malformation | -| Orphanet:178311 | Isolated sternocostoclavicular hyperostosis | -| Orphanet:3208 | Isolated succinate-CoQ reductase deficiency | -| Orphanet:99731 | Isolated sulfite oxidase deficiency | -| Orphanet:90674 | Isolated thyroid-stimulating hormone deficiency | -| Orphanet:238670 | Isolated thyrotropin-releasing hormone deficiency | -| Orphanet:269206 | Isolated total cerebellar vermis agenesis | -| Orphanet:454750 | Isolated tracheoesophageal fistula | -| Orphanet:645322 | Isolated transitional filum lipoma | -| Orphanet:269218 | Isolated unilateral hemispheric cerebellar hypoplasia | -| Orphanet:519304 | Isolated vitreoretinopathy | -| Orphanet:472 | Isosporiasis | -| Orphanet:2305 | Isotretinoin syndrome | -| Orphanet:2306 | Isotretinoin-like syndrome | -| Orphanet:33 | Isovaleric acidemia | -| Orphanet:1540 | Jackson-Weiss syndrome | -| Orphanet:2308 | Jacobsen syndrome | -| Orphanet:1873 | Jalili syndrome | -| Orphanet:79139 | Japanese encephalitis | -| Orphanet:313795 | Jawad syndrome | -| Orphanet:139431 | Jeavons syndrome | -| Orphanet:90647 | Jervell and Lange-Nielsen syndrome | -| Orphanet:33314 | Jessner lymphocytic infiltration of the skin | -| Orphanet:474 | Jeune syndrome | -| Orphanet:2315 | Johanson-Blizzard syndrome | -| Orphanet:2316 | Johnson neuroectodermal syndrome | -| Orphanet:294949 | Joint formation defects | -| Orphanet:475 | Joubert syndrome | -| Orphanet:140874 | Joubert syndrome and related disorders | -| Orphanet:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | -| Orphanet:1454 | Joubert syndrome with hepatic defect | -| Orphanet:220493 | Joubert syndrome with ocular defect | -| Orphanet:2318 | Joubert syndrome with oculorenal defect | -| Orphanet:220497 | Joubert syndrome with renal defect | -| Orphanet:2319 | Juberg-Hayward syndrome | -| Orphanet:305 | Junctional epidermolysis bullosa | -| Orphanet:79405 | Junctional epidermolysis bullosa inversa | -| Orphanet:79403 | Junctional epidermolysis bullosa with pyloric atresia | -| Orphanet:2321 | Jung syndrome | -| Orphanet:248111 | Juvenile Huntington disease | -| Orphanet:2801 | Juvenile Paget disease | -| Orphanet:1941 | Juvenile absence epilepsy | -| Orphanet:300605 | Juvenile amyotrophic lateral sclerosis | -| Orphanet:247794 | Juvenile cataract-microcornea-renal glucosuria syndrome | -| Orphanet:93672 | Juvenile dermatomyositis | -| Orphanet:98977 | Juvenile glaucoma | -| Orphanet:2028 | Juvenile hyaline fibromatosis | -| Orphanet:329888 | Juvenile idiopathic inflammatory myopathy | -| Orphanet:391497 | Juvenile myasthenia gravis | -| Orphanet:86834 | Juvenile myelomonocytic leukemia | -| Orphanet:307 | Juvenile myoclonic epilepsy | -| Orphanet:289596 | Juvenile nasopharyngeal angiofibroma | -| Orphanet:93592 | Juvenile nephronophthisis | -| Orphanet:411634 | Juvenile nephropathic cystinosis | -| Orphanet:79264 | Juvenile neuronal ceroid lipofuscinosis | -| Orphanet:157719 | Juvenile or adult CACH syndrome | -| Orphanet:329894 | Juvenile overlap myositis | -| Orphanet:93568 | Juvenile polymyositis | -| Orphanet:79076 | Juvenile polyposis of infancy | -| Orphanet:2929 | Juvenile polyposis syndrome | -| Orphanet:247604 | Juvenile primary lateral sclerosis | -| Orphanet:93399 | Juvenile sialidosis type 2 | -| Orphanet:26137 | Juvenile temporal arteritis | -| Orphanet:158000 | Juvenile xanthogranuloma | -| Orphanet:589827 | Juvenile-onset Steinert myotonic dystrophy | -| Orphanet:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | -| Orphanet:99100 | Juxtaposition of the atrial appendages | -| Orphanet:597749 | KAT6B-related multiple congenital anomalies syndrome | -| Orphanet:2332 | KBG syndrome | -| Orphanet:439218 | KCNQ2-related epileptic encephalopathy | -| Orphanet:633004 | KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome | -| Orphanet:85279 | KDM5C-related syndromic X-linked intellectual disability | -| Orphanet:610569 | KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome | -| Orphanet:477 | KID syndrome | -| Orphanet:603684 | KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome | -| Orphanet:603689 | KLHL7-related Bohring-Opitz-like syndrome | -| Orphanet:603694 | KLHL7-related Crisponi/cold-induced sweating-like syndrome | -| Orphanet:399081 | KLHL9-related early-onset distal myopathy | -| Orphanet:530838 | KRT1-related diffuse nonepidermolytic keratoderma | -| Orphanet:2322 | Kabuki syndrome | -| Orphanet:254519 | Kagami-Ogata syndrome | -| Orphanet:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | -| Orphanet:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | -| Orphanet:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | -| Orphanet:478 | Kallmann syndrome | -| Orphanet:2326 | Kallmann syndrome-heart disease syndrome | -| Orphanet:99179 | Kandori fleck retina | -| Orphanet:33276 | Kaposi sarcoma | -| Orphanet:2122 | Kaposiform hemangioendothelioma | -| Orphanet:464329 | Kaposiform lymphangiomatosis | -| Orphanet:2328 | Kapur-Toriello syndrome | -| Orphanet:2329 | Karsch-Neugebauer syndrome | -| Orphanet:401996 | Karyomegalic interstitial nephritis | -| Orphanet:2330 | Kasabach-Merritt syndrome | -| Orphanet:2331 | Kawasaki disease | -| Orphanet:480 | Kearns-Sayre syndrome | -| Orphanet:2662 | Keipert syndrome | -| Orphanet:481 | Kennedy disease | -| Orphanet:2333 | Kenny-Caffey syndrome | -| Orphanet:435628 | Keppen-Lubinsky syndrome | -| Orphanet:281103 | Keratinopathic ichthyosis | -| Orphanet:447777 | Keratocystic odontogenic tumor | -| Orphanet:494 | Keratoderma hereditarium mutilans | -| Orphanet:79395 | Keratoderma hereditarium mutilans with ichthyosis | -| Orphanet:647815 | Keratoendotheliitis fugax hereditaria | -| Orphanet:50943 | Keratolytic winter erythema | -| Orphanet:2340 | Keratosis follicularis spinulosa decalvans | -| Orphanet:2339 | Keratosis follicularis-dwarfism-cerebral atrophy syndrome | -| Orphanet:281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | -| Orphanet:86919 | Keratosis palmaris et plantaris-clinodactyly syndrome | -| Orphanet:498 | Keratosis pilaris atrophicans | -| Orphanet:499 | Kerion celsi | -| Orphanet:293807 | Ketamine-induced biliary dilatation | -| Orphanet:438075 | Ketoacidosis due to monocarboxylate transporter-1 deficiency | -| Orphanet:85202 | Keutel syndrome | -| Orphanet:73224 | Kidney tubulopathy-dilated cardiomyopathy syndrome | -| Orphanet:97332 | Kienbock disease | -| Orphanet:50918 | Kikuchi-Fujimoto disease | -| Orphanet:482 | Kimura disease | -| Orphanet:2908 | Kindler epidermolysis bullosa | -| Orphanet:99741 | King-Denborough syndrome | -| Orphanet:99978 | Klatskin tumor | -| Orphanet:261494 | Kleefstra syndrome | -| Orphanet:96147 | Kleefstra syndrome due to 9q34 microdeletion | -| Orphanet:261652 | Kleefstra syndrome due to a point mutation | -| Orphanet:33543 | Kleine-Levin syndrome | -| Orphanet:447974 | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | -| Orphanet:90308 | Klippel-Trénaunay syndrome | -| Orphanet:157823 | Klüver-Bucy syndrome | -| Orphanet:485 | Kniest dysplasia | -| Orphanet:1571 | Knobloch syndrome | -| Orphanet:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | -| Orphanet:99077 | Kommerell diverticulum | -| Orphanet:96169 | Koolen-De Vries syndrome | -| Orphanet:363965 | Koolen-De Vries syndrome due to a point mutation | -| Orphanet:477831 | Kosaki overgrowth syndrome | -| Orphanet:99749 | Kostmann syndrome | -| Orphanet:2351 | Kousseff syndrome | -| Orphanet:487 | Krabbe disease | -| Orphanet:306674 | Kufor-Rakeb syndrome | -| Orphanet:454745 | Kuru | -| Orphanet:1149 | Kuskokwim syndrome | -| Orphanet:319254 | Kyasanur forest disease | -| Orphanet:1801 | Kyphomelic dysplasia | -| Orphanet:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | -| Orphanet:536545 | Kyphoscoliotic Ehlers-Danlos syndrome | -| Orphanet:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | -| Orphanet:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | -| Orphanet:496686 | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome | -| Orphanet:79314 | L-2-hydroxyglutaric aciduria | -| Orphanet:35704 | L-Arginine:glycine amidinotransferase deficiency | -| Orphanet:440731 | L-ferritin deficiency | -| Orphanet:275543 | L1 syndrome | -| Orphanet:521450 | LAMA5-related multisystemic syndrome | -| Orphanet:650 | LCAT deficiency | -| Orphanet:99812 | LIG4 syndrome | -| Orphanet:435660 | LIPE-related familial partial lipodystrophy | -| Orphanet:363618 | LMNA-related cardiocutaneous progeria syndrome | -| Orphanet:498481 | LRP5-related primary osteoporosis | -| Orphanet:83628 | LUMBAR syndrome | -| Orphanet:83483 | La Crosse encephalitis | -| Orphanet:98605 | Lacrimal drainage system anomaly | -| Orphanet:522534 | Lacrimal drainage system anomaly of genetic origin | -| Orphanet:2363 | Lacrimoauriculodentodigital syndrome | -| Orphanet:501 | Lafora disease | -| Orphanet:59135 | Laing early-onset distal myopathy | -| Orphanet:530983 | Lamb-Shaffer syndrome | -| Orphanet:1296 | Lambert syndrome | -| Orphanet:43393 | Lambert-Eaton myasthenic syndrome | -| Orphanet:313 | Lamellar ichthyosis | -| Orphanet:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | -| Orphanet:565837 | Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 | -| Orphanet:207094 | Laminin subunit alpha 2-related muscular dystrophy | -| Orphanet:98301 | Laminopathy | -| Orphanet:300763 | Laminopathy with lipodystrophy | -| Orphanet:300758 | Laminopathy with peripheral neuropathy | -| Orphanet:300766 | Laminopathy with premature aging | -| Orphanet:300755 | Laminopathy with striated muscle involvement | -| Orphanet:98818 | Landau-Kleffner syndrome | -| Orphanet:2632 | Langer mesomelic dysplasia | -| Orphanet:389 | Langerhans cell histiocytosis | -| Orphanet:86897 | Langerhans cell sarcoma | -| Orphanet:626 | Large congenital melanocytic nevus | -| Orphanet:633 | Laron syndrome | -| Orphanet:220465 | Laron syndrome with immunodeficiency | -| Orphanet:503 | Larsen syndrome | -| Orphanet:2370 | Larsen-like osseous dysplasia-short stature syndrome | -| Orphanet:284139 | Larsen-like syndrome, B3GAT3 type | -| Orphanet:2808 | Laryngeal abductor paralysis | -| Orphanet:2375 | Laryngeal abductor paralysis-intellectual disability syndrome | -| Orphanet:100083 | Laryngeal neuroendocrine tumor | -| Orphanet:2407 | Laryngo-onycho-cutaneous syndrome | -| Orphanet:2372 | Laryngocele | -| Orphanet:137935 | Laryngotracheal angioma | -| Orphanet:2004 | Laryngotracheoesophageal cleft | -| Orphanet:280205 | Laryngotracheoesophageal cleft type 0 | -| Orphanet:93938 | Laryngotracheoesophageal cleft type 1 | -| Orphanet:93939 | Laryngotracheoesophageal cleft type 2 | -| Orphanet:93940 | Laryngotracheoesophageal cleft type 3 | -| Orphanet:93941 | Laryngotracheoesophageal cleft type 4 | -| Orphanet:156249 | Larynx anomaly | -| Orphanet:1202 | Larynx atresia | -| Orphanet:99824 | Lassa fever | -| Orphanet:157716 | Late infantile CACH syndrome | -| Orphanet:168491 | Late infantile neuronal ceroid lipofuscinosis | -| Orphanet:206443 | Late-infantile/juvenile Krabbe disease | -| Orphanet:589833 | Late-onset Steinert myotonic dystrophy | -| Orphanet:98540 | Late-onset ataxia with dementia | -| Orphanet:247573 | Late-onset citrullinemia type I | -| Orphanet:98912 | Late-onset distal myopathy, Markesbery-Griggs type | -| Orphanet:556037 | Late-onset familial hypoaldosteronism | -| Orphanet:228227 | Late-onset focal dermal elastosis | -| Orphanet:199299 | Late-onset isolated ACTH deficiency | -| Orphanet:79406 | Late-onset junctional epidermolysis bullosa | -| Orphanet:231556 | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome | -| Orphanet:93589 | Late-onset nephronophthisis | -| Orphanet:67042 | Late-onset retinal degeneration | -| Orphanet:431263 | Late-onset scapuloperoneal muscular dystrophy with hyaline bodies | -| Orphanet:141269 | Lateral facial cleft | -| Orphanet:2789 | Lateral meningocele syndrome | -| Orphanet:46059 | Lathosterolosis | -| Orphanet:98964 | Lattice corneal dystrophy type I | -| Orphanet:99094 | Laubry-Pezzi syndrome | -| Orphanet:2377 | Laurence-Moon syndrome | -| Orphanet:2378 | Laurin-Sandrow syndrome | -| Orphanet:330015 | Lead poisoning | -| Orphanet:65 | Leber congenital amaurosis | -| Orphanet:104 | Leber hereditary optic neuropathy | -| Orphanet:99718 | Leber plus disease | -| Orphanet:199251 | Ledderhose disease | -| Orphanet:566862 | Left sided atrial isomerism | -| Orphanet:54260 | Left ventricular noncompaction | -| Orphanet:2380 | Legg-Calvé-Perthes disease | -| Orphanet:600832 | Legionellosis | -| Orphanet:549 | Legionnaires disease | -| Orphanet:137605 | Legius syndrome | -| Orphanet:506 | Leigh syndrome | -| Orphanet:64720 | Leiomyosarcoma | -| Orphanet:104076 | Leiomyosarcoma of small intestine | -| Orphanet:213807 | Leiomyosarcoma of the cervix uteri | -| Orphanet:213625 | Leiomyosarcoma of the corpus uteri | -| Orphanet:507 | Leishmaniasis | -| Orphanet:140936 | Lelis syndrome | -| Orphanet:137839 | Lemierre syndrome | -| Orphanet:2382 | Lennox-Gastaut syndrome | -| Orphanet:98653 | Lens position anomaly | -| Orphanet:522552 | Lens position anomaly of genetic origin | -| Orphanet:98655 | Lens shape anomaly | -| Orphanet:98652 | Lens size anomaly | -| Orphanet:522550 | Lens size anomaly of genetic origin | -| Orphanet:2658 | Lenz-Majewski hyperostotic dwarfism | -| Orphanet:508 | Leprechaunism | -| Orphanet:548 | Leprosy | -| Orphanet:509 | Leptospirosis | -| Orphanet:2900 | Leri pleonosteosis | -| Orphanet:510 | Lesch-Nyhan syndrome | -| Orphanet:2347 | Lethal Kniest-like dysplasia | -| Orphanet:2371 | Lethal Larsen-like syndrome | -| Orphanet:158687 | Lethal acantholytic erosive disorder | -| Orphanet:314718 | Lethal arteriopathy syndrome due to fibulin-4 deficiency | -| Orphanet:1187 | Lethal ataxia with deafness and optic atrophy | -| Orphanet:580933 | Lethal brain and heart developmental defects | -| Orphanet:93465 | Lethal chondrodysplasia | -| Orphanet:294965 | Lethal congenital contracture syndrome | -| Orphanet:1486 | Lethal congenital contracture syndrome type 1 | -| Orphanet:137776 | Lethal congenital contracture syndrome type 2 | -| Orphanet:137783 | Lethal congenital contracture syndrome type 3 | -| Orphanet:1972 | Lethal faciocardiomelic dysplasia | -| Orphanet:444069 | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome | -| Orphanet:439897 | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | -| Orphanet:1046 | Lethal hemolytic anemia-genital anomalies syndrome | -| Orphanet:480528 | Lethal hydranencephaly-diaphragmatic hernia syndrome | -| Orphanet:254857 | Lethal infantile mitochondrial myopathy | -| Orphanet:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | -| Orphanet:478049 | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | -| Orphanet:459787 | Lethal multiple congenital anomalies/dysmorphic syndrome | -| Orphanet:33108 | Lethal multiple pterygium syndrome | -| Orphanet:435845 | Lethal neonatal spasticity-epileptic encephalopathy syndrome | -| Orphanet:293925 | Lethal occipital encephalocele-skeletal dysplasia syndrome | -| Orphanet:2736 | Lethal omphalocele-cleft palate syndrome | -| Orphanet:1832 | Lethal osteosclerotic bone dysplasia | -| Orphanet:210144 | Lethal polymalformative syndrome, Boissel type | -| Orphanet:615954 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome | -| Orphanet:615983 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation | -| Orphanet:615986 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster | -| Orphanet:1423 | Lethal recessive chondrodysplasia | -| Orphanet:529831 | Letrozole toxicity | -| Orphanet:2968 | Leukocyte adhesion deficiency | -| Orphanet:99842 | Leukocyte adhesion deficiency type I | -| Orphanet:99843 | Leukocyte adhesion deficiency type II | -| Orphanet:99844 | Leukocyte adhesion deficiency type III | -| Orphanet:68356 | Leukodystrophy | -| Orphanet:139444 | Leukoencephalopathy with bilateral anterior temporal lobe cysts | -| Orphanet:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | -| Orphanet:542310 | Leukoencephalopathy with calcifications and cysts | -| Orphanet:363540 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | -| Orphanet:163684 | Leukoencephalopathy-dystonia-motor neuropathy syndrome | -| Orphanet:2386 | Leukoencephalopathy-palmoplantar keratoderma syndrome | -| Orphanet:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | -| Orphanet:314051 | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | -| Orphanet:1816 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome | -| Orphanet:2387 | Leukonychia totalis | -| Orphanet:210133 | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome | -| Orphanet:95854 | Levocardia | -| Orphanet:48162 | Lewis-Sumner syndrome | -| Orphanet:755 | Leydig cell hypoplasia | -| Orphanet:325448 | Leydig cell hypoplasia due to LHB deficiency | -| Orphanet:96265 | Leydig cell hypoplasia due to complete LH resistance | -| Orphanet:96266 | Leydig cell hypoplasia due to partial LH resistance | -| Orphanet:65285 | Lhermitte-Duclos disease | -| Orphanet:524 | Li-Fraumeni syndrome | -| Orphanet:49804 | Lichen amyloidosis | -| Orphanet:402007 | Lichen myxedematosus | -| Orphanet:525 | Lichen planopilaris | -| Orphanet:254478 | Lichen planus pemphigoides | -| Orphanet:254463 | Lichen planus pigmentosus | -| Orphanet:2390 | Lichtenstein syndrome | -| Orphanet:526 | Liddle syndrome | -| Orphanet:93557 | Light and heavy chain deposition disease | -| Orphanet:93558 | Light chain deposition disease | -| Orphanet:2369 | Limb body wall complex | -| Orphanet:263 | Limb-girdle muscular dystrophy | -| Orphanet:445110 | Limb-girdle muscular dystrophy due to POMK deficiency | -| Orphanet:69085 | Limb-mammary syndrome | -| Orphanet:171673 | Limbal stem cell deficiency | -| Orphanet:220402 | Limited cutaneous systemic sclerosis | -| Orphanet:645196 | Limited dorsal myeloschisis | -| Orphanet:220407 | Limited systemic sclerosis | -| Orphanet:46488 | Linear IgA dermatosis | -| Orphanet:79150 | Linear and whorled nevoid hypermelanosis | -| Orphanet:140933 | Linear atrophoderma of Moulin | -| Orphanet:228236 | Linear focal elastosis | -| Orphanet:589608 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | -| Orphanet:254379 | Linear lichen planus | -| Orphanet:2612 | Linear nevus sebaceus syndrome | -| Orphanet:2611 | Linear verrucous nevus syndrome | -| Orphanet:247762 | Lipoblastoma | -| Orphanet:1979 | Lipodystrophy due to peptidic growth factors deficiency | -| Orphanet:50811 | Lipodystrophy-intellectual disability-deafness syndrome | -| Orphanet:401854 | Lipoic acid biosynthesis defect | -| Orphanet:401859 | Lipoic acid synthetase deficiency | -| Orphanet:530 | Lipoid proteinosis | -| Orphanet:645300 | Lipomatous non-saccular limited dorsal myeloschisis | -| Orphanet:329481 | Lipoprotein glomerulopathy | -| Orphanet:69078 | Liposarcoma | -| Orphanet:401862 | Lipoyl transferase 1 deficiency | -| Orphanet:447795 | Lipoyl transferase 2 deficiency | -| Orphanet:98955 | Lisch epithelial corneal dystrophy | -| Orphanet:48471 | Lissencephaly | -| Orphanet:95232 | Lissencephaly due to LIS1 mutation | -| Orphanet:171680 | Lissencephaly due to TUBA1A mutation | -| Orphanet:89844 | Lissencephaly syndrome, Norman-Roberts type | -| Orphanet:2148 | Lissencephaly type 1 due to doublecortin gene mutation | -| Orphanet:102011 | Lissencephaly type 3 | -| Orphanet:86821 | Lissencephaly type 3-familial fetal akinesia sequence syndrome | -| Orphanet:86822 | Lissencephaly type 3-metacarpal bone dysplasia syndrome | -| Orphanet:86823 | Lissencephaly with cerebellar hypoplasia | -| Orphanet:100011 | Lissencephaly with cerebellar hypoplasia type A | -| Orphanet:100012 | Lissencephaly with cerebellar hypoplasia type B | -| Orphanet:100013 | Lissencephaly with cerebellar hypoplasia type C | -| Orphanet:100014 | Lissencephaly with cerebellar hypoplasia type D | -| Orphanet:100015 | Lissencephaly with cerebellar hypoplasia type E | -| Orphanet:100016 | Lissencephaly with cerebellar hypoplasia type F | -| Orphanet:533 | Listeriosis | -| Orphanet:542643 | Livedoid vasculopathy | -| Orphanet:566841 | Liver adenomatosis | -| Orphanet:93924 | Lobar holoprosencephaly | -| Orphanet:595356 | Localized dystrophic epidermolysis bullosa | -| Orphanet:158673 | Localized dystrophic epidermolysis bullosa, acral form | -| Orphanet:158676 | Localized dystrophic epidermolysis bullosa, nails only | -| Orphanet:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | -| Orphanet:79400 | Localized epidermolysis bullosa simplex | -| Orphanet:251393 | Localized junctional epidermolysis bullosa | -| Orphanet:86795 | Localized lichen myxedematosus | -| Orphanet:90398 | Localized lichen myxedematosus with mixed features of different subtypes | -| Orphanet:90399 | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms | -| Orphanet:79088 | Localized lipodystrophy | -| Orphanet:178517 | Localized pagetoid reticulosis | -| Orphanet:90289 | Localized scleroderma | -| Orphanet:2406 | Locked-in syndrome | -| Orphanet:75566 | Loeffler endocarditis | -| Orphanet:60030 | Loeys-Dietz syndrome | -| Orphanet:250831 | Logopenic progressive aphasia | -| Orphanet:2404 | Loiasis | -| Orphanet:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | -| Orphanet:498457 | Longitudinal limb defect | -| Orphanet:180157 | Longitudinal vaginal septum | -| Orphanet:168 | Loose anagen syndrome | -| Orphanet:69663 | Low phospholipid-associated cholelithiasis | -| Orphanet:140949 | Low-flow priapism | -| Orphanet:251592 | Low-grade astrocytoma | -| Orphanet:213736 | Low-grade neuroendocrine tumor of the corpus uteri | -| Orphanet:2408 | Lowe-Kohn-Cohen syndrome | -| Orphanet:295051 | Lower limb hypertrophy | -| Orphanet:2487 | Lower limb malformation-hypospadias syndrome | -| Orphanet:141064 | Lower lip fistula | -| Orphanet:276435 | Lower motor neuron syndrome with late-adult onset | -| Orphanet:844 | Lown-Ganong-Levine syndrome | -| Orphanet:2409 | Lowry-MacLean syndrome | -| Orphanet:1824 | Lowry-Wood syndrome | -| Orphanet:776 | Lujan-Fryns syndrome | -| Orphanet:319213 | Lujo hemorrhagic fever | -| Orphanet:1120 | Lung agenesis-heart defect-thumb anomalies syndrome | -| Orphanet:137631 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome | -| Orphanet:90285 | Lupus erythematosus panniculitis | -| Orphanet:90283 | Lupus erythematosus tumidus | -| Orphanet:597738 | Luscan-Lumish syndrome | -| Orphanet:91546 | Lyme disease | -| Orphanet:538 | Lymphangioleiomyomatosis | -| Orphanet:2035 | Lymphatic filariasis | -| Orphanet:86915 | Lymphedema-atrial septal defects-facial changes syndrome | -| Orphanet:86914 | Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome | -| Orphanet:33001 | Lymphedema-distichiasis syndrome | -| Orphanet:99141 | Lymphedema-posterior choanal atresia syndrome | -| Orphanet:314970 | Lymphocytic hypereosinophilic syndrome | -| Orphanet:289682 | Lymphoepithelial-like carcinoma | -| Orphanet:79128 | Lymphoid interstitial pneumonia | -| Orphanet:86869 | Lymphomatoid granulomatosis | -| Orphanet:98842 | Lymphomatoid papulosis | -| Orphanet:555437 | Lymphoplasmacytic inflammatory pseudotumor of the liver | -| Orphanet:443159 | Lymphoplasmacytic lymphoma without IgM production | -| Orphanet:144 | Lynch syndrome | -| Orphanet:470 | Lysinuric protein intolerance | -| Orphanet:275761 | Lysosomal acid lipase deficiency | -| Orphanet:35121 | Lysosomal acid phosphatase deficiency | -| Orphanet:68366 | Lysosomal disease | -| Orphanet:225681 | Lysosomal disease with epilepsy | -| Orphanet:309337 | Lysosomal glycogen storage disease | -| Orphanet:93448 | Lysosomal storage disease with skeletal involvement | -| Orphanet:240 | Léri-Weill dyschondrosteosis | -| Orphanet:398069 | MAGEL2-related Prader-Willi-like syndrome | -| Orphanet:324972 | MAGIC syndrome | -| Orphanet:52417 | MALT lymphoma | -| Orphanet:397941 | MAN1B1-CDG | -| Orphanet:2466 | MASA syndrome | -| Orphanet:171851 | MEDNIK syndrome | -| Orphanet:352328 | MEGDEL syndrome | -| Orphanet:85282 | MEHMO syndrome | -| Orphanet:550 | MELAS | -| Orphanet:401973 | MEND syndrome | -| Orphanet:508093 | MEPAN syndrome | -| Orphanet:551 | MERRF | -| Orphanet:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | -| Orphanet:79329 | MGAT2-CDG | -| Orphanet:623695 | MIR140-related spondyloepiphyseal dysplasia | -| Orphanet:494433 | MIRAGE syndrome | -| Orphanet:293822 | MITF-related melanoma and renal cell carcinoma predisposition syndrome | -| Orphanet:497757 | MME-related autosomal dominant Charcot Marie Tooth disease type 2 | -| Orphanet:3434 | MMEP syndrome | -| Orphanet:552 | MODY | -| Orphanet:79330 | MOGS-CDG | -| Orphanet:2563 | MOMO syndrome | -| Orphanet:75858 | MORM syndrome | -| Orphanet:79323 | MPDU1-CDG | -| Orphanet:79319 | MPI-CDG | -| Orphanet:263347 | MRCS syndrome | -| Orphanet:480536 | MSH3-related attenuated familial adenomatous polyposis | -| Orphanet:320360 | MT-ATP6-related mitochondrial spastic paraplegia | -| Orphanet:597874 | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome | -| Orphanet:88949 | MUC1-related autosomal dominant tubulointerstitial kidney disease | -| Orphanet:247798 | MUTYH-related attenuated familial adenomatous polyposis | -| Orphanet:498693 | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | -| Orphanet:182050 | MYH9-related disease | -| Orphanet:480491 | MYO5B-related progressive familial intrahepatic cholestasis | -| Orphanet:647799 | MYT1L-related developmental delay-intellectual disability-obesity syndrome | -| Orphanet:276238 | Machado-Joseph disease type 1 | -| Orphanet:276241 | Machado-Joseph disease type 2 | -| Orphanet:276244 | Machado-Joseph disease type 3 | -| Orphanet:397612 | Macrocephaly-developmental delay syndrome | -| Orphanet:210548 | Macrocephaly-intellectual disability-autism syndrome | -| Orphanet:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | -| Orphanet:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | -| Orphanet:2427 | Macrocephaly-short stature-paraplegia syndrome | -| Orphanet:2429 | Macrocephaly-spastic paraplegia-dysmorphism syndrome | -| Orphanet:79489 | Macrocystic lymphatic malformation | -| Orphanet:295044 | Macrodactyly of fingers | -| Orphanet:295241 | Macrodactyly of fingers, bilateral | -| Orphanet:295239 | Macrodactyly of fingers, unilateral | -| Orphanet:295047 | Macrodactyly of toes | -| Orphanet:295245 | Macrodactyly of toes, bilateral | -| Orphanet:295243 | Macrodactyly of toes, unilateral | -| Orphanet:156207 | Macroglossia | -| Orphanet:158061 | Macrophage activation syndrome | -| Orphanet:592 | Macrophagic myofasciitis | -| Orphanet:2432 | Macrosomia-microphthalmia-cleft palate syndrome | -| Orphanet:83619 | Macrostomia-preauricular tags-external ophthalmoplegia syndrome | -| Orphanet:220448 | Macrothrombocytopenia with mitral valve insufficiency | -| Orphanet:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | -| Orphanet:137814 | Macular amyloidosis | -| Orphanet:91494 | Macular coloboma-cleft palate-hallux valgus syndrome | -| Orphanet:98969 | Macular corneal dystrophy | -| Orphanet:79457 | Maculopapular cutaneous mastocytosis | -| Orphanet:137867 | Madras motor neuron disease | -| Orphanet:163634 | Maffucci syndrome | -| Orphanet:77297 | Majeed syndrome | -| Orphanet:87503 | Mal de Meleda | -| Orphanet:210272 | Mal de débarquement | -| Orphanet:556 | Malakoplakia | -| Orphanet:420179 | Malan overgrowth syndrome | -| Orphanet:673 | Malaria | -| Orphanet:2234 | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | -| Orphanet:529970 | Male infertility due to acephalic spermatozoa | -| Orphanet:171709 | Male infertility due to globozoospermia | -| Orphanet:98313 | Male infertility due to gonadal dysgenesis | -| Orphanet:399764 | Male infertility due to gonadal dysgenesis or sperm disorder | -| Orphanet:137893 | Male infertility due to large-headed multiflagellar polyploid spermatozoa | -| Orphanet:98343 | Male infertility due to obstructive azoospermia | -| Orphanet:399998 | Male infertility due to obstructive azoospermia of genetic origin | -| Orphanet:399771 | Male infertility due to sperm disorder | -| Orphanet:399813 | Male infertility due to sperm motility disorder | -| Orphanet:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | -| Orphanet:399775 | Male infertility with spermatogenesis disorder | -| Orphanet:399786 | Male infertility with spermatogenesis disorder due to single gene mutation | -| Orphanet:399808 | Male infertility with teratozoospermia due to single gene mutation | -| Orphanet:98516 | Malformation of the cerebellar hemispheres | -| Orphanet:98514 | Malformation of the cerebellar vermis | -| Orphanet:268843 | Malformation of the neurenteric canal, spinal cord and column | -| Orphanet:98196 | Malformation syndrome with hamartosis | -| Orphanet:139042 | Malformation syndrome with odontal and/or periodontal component | -| Orphanet:139021 | Malformation syndrome with short stature | -| Orphanet:180766 | Malformative syndrome with dentinogenesis imperfecta | -| Orphanet:99915 | Maligant granulosa cell tumor of the ovary | -| Orphanet:289385 | Malignancy diagnosed during pregnancy | -| Orphanet:99916 | Malignant Sertoli-Leydig cell tumor of the ovary | -| Orphanet:679 | Malignant atrophic papulosis | -| Orphanet:99912 | Malignant dysgerminomatous germ cell tumor of the ovary | -| Orphanet:398934 | Malignant epithelial tumor of ovary | -| Orphanet:276145 | Malignant epithelial tumor of salivary glands | -| Orphanet:213837 | Malignant germ cell tumor of the cervix uteri | -| Orphanet:213751 | Malignant germ cell tumor of the corpus uteri | -| Orphanet:206489 | Malignant germ cell tumor of the vagina | -| Orphanet:423 | Malignant hyperthermia of anesthesia | -| Orphanet:207046 | Malignant lymphoma with peripheral neuropathy | -| Orphanet:168999 | Malignant melanoma of the mucosa | -| Orphanet:293181 | Malignant migrating focal seizures of infancy | -| Orphanet:213512 | Malignant mixed Müllerian tumor of the ovary | -| Orphanet:213782 | Malignant mixed epithelial and mesenchymal tumor of cervix uteri | -| Orphanet:213589 | Malignant mixed epithelial and mesenchymal tumor of corpus uteri | -| Orphanet:206538 | Malignant non-dysgerminomatous germ cell tumor of ovary | -| Orphanet:398940 | Malignant non-epithelial tumor of ovary | -| Orphanet:3148 | Malignant peripheral nerve sheath tumor | -| Orphanet:252128 | Malignant peripheral nerve sheath tumor with perineurial differentiation | -| Orphanet:168811 | Malignant peritoneal mesothelioma | -| Orphanet:35808 | Malignant sex cord stromal tumor of ovary | -| Orphanet:398987 | Malignant teratoma of ovary | -| Orphanet:252212 | Malignant triton tumor | -| Orphanet:180242 | Malignant tumor of fallopian tubes | -| Orphanet:398043 | Malignant tumor of penis | -| Orphanet:943 | Malonic aciduria | -| Orphanet:99090 | Malposition of a coronary ostium | -| Orphanet:238744 | Mammary-digital-nail syndrome | -| Orphanet:141174 | Mandibular arteriovenous malformation | -| Orphanet:363649 | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome | -| Orphanet:2457 | Mandibuloacral dysplasia | -| Orphanet:647667 | Mandibuloacral dysplasia associated to MTX2 | -| Orphanet:90153 | Mandibuloacral dysplasia with type A lipodystrophy | -| Orphanet:90154 | Mandibuloacral dysplasia with type B lipodystrophy | -| Orphanet:155899 | Mandibulofacial dysostosis | -| Orphanet:443995 | Mandibulofacial dysostosis with alopecia | -| Orphanet:357158 | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | -| Orphanet:79113 | Mandibulofacial dysostosis-microcephaly syndrome | -| Orphanet:306682 | Manganese poisoning | -| Orphanet:2459 | Mansonelliasis | -| Orphanet:52416 | Mantle cell lymphoma | -| Orphanet:511 | Maple syrup urine disease | -| Orphanet:228157 | Marburg acute multiple sclerosis | -| Orphanet:99826 | Marburg hemorrhagic fever | -| Orphanet:221074 | Marchiafava-Bignami disease | -| Orphanet:91412 | Marcus-Gunn syndrome | -| Orphanet:2461 | Marden-Walker syndrome | -| Orphanet:558 | Marfan syndrome | -| Orphanet:284993 | Marfan syndrome and Marfan-related disorders | -| Orphanet:284963 | Marfan syndrome type 1 | -| Orphanet:284973 | Marfan syndrome type 2 | -| Orphanet:2463 | Marfanoid habitus-autosomal recessive intellectual disability syndrome | -| Orphanet:643503 | Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome | -| Orphanet:314041 | Marfanoid habitus-inguinal hernia-advanced bone age syndrome | -| Orphanet:2464 | Marfanoid syndrome, De Silva type | -| Orphanet:307995 | Marginal papular palmoplantar keratoderma | -| Orphanet:444 | Marie Unna hereditary hypotrichosis | -| Orphanet:101104 | Marin-Amat syndrome | -| Orphanet:559 | Marinesco-Sjögren syndrome | -| Orphanet:560 | Marshall syndrome | -| Orphanet:561 | Marshall-Smith syndrome | -| Orphanet:466718 | Martinique crinkled retinal pigment epitheliopathy | -| Orphanet:98851 | Mast cell leukemia | -| Orphanet:66661 | Mast cell sarcoma | -| Orphanet:98292 | Mastocytosis | -| Orphanet:251535 | Maternal disease-related embryofetopathy | -| Orphanet:2216 | Maternal hyperthermia-induced birth defects | -| Orphanet:2209 | Maternal phenylketonuria | -| Orphanet:411712 | Maternal riboflavin deficiency | -| Orphanet:98153 | Maternal uniparental disomy | -| Orphanet:251009 | Maternal uniparental disomy of chromosome 1 | -| Orphanet:97678 | Maternal uniparental disomy of chromosome 13 | -| Orphanet:96185 | Maternal uniparental disomy of chromosome 16 | -| Orphanet:96179 | Maternal uniparental disomy of chromosome 2 | -| Orphanet:96186 | Maternal uniparental disomy of chromosome 20 | -| Orphanet:96187 | Maternal uniparental disomy of chromosome 21 | -| Orphanet:96188 | Maternal uniparental disomy of chromosome 22 | -| Orphanet:96180 | Maternal uniparental disomy of chromosome 4 | -| Orphanet:96181 | Maternal uniparental disomy of chromosome 6 | -| Orphanet:96183 | Maternal uniparental disomy of chromosome 9 | -| Orphanet:261519 | Maternal uniparental disomy of chromosome X | -| Orphanet:225 | Maternally-inherited diabetes and deafness | -| Orphanet:2470 | Matthew-Wood syndrome | -| Orphanet:141171 | Maxillary arteriovenous malformation | -| Orphanet:1248 | Maxillonasal dysplasia | -| Orphanet:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | -| Orphanet:247775 | Mayer-Rokitansky-Küster-Hauser syndrome type 1 | -| Orphanet:2578 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | -| Orphanet:57782 | Mazabraud syndrome | -| Orphanet:562 | McCune-Albright syndrome | -| Orphanet:2471 | McDonough syndrome | -| Orphanet:2473 | McKusick-Kaufman syndrome | -| Orphanet:59306 | McLeod neuroacanthocytosis syndrome | -| Orphanet:3097 | Meacham syndrome | -| Orphanet:564 | Meckel syndrome | -| Orphanet:70588 | Meconium aspiration syndrome | -| Orphanet:57196 | Medial condensing osteitis of the clavicle | -| Orphanet:2006 | Median cleft lip/mandible | -| Orphanet:141239 | Median cleft of the upper lip and maxilla | -| Orphanet:141234 | Median facial cleft | -| Orphanet:2699 | Median nodule of the upper lip | -| Orphanet:370127 | Medich giant platelet syndrome | -| Orphanet:42 | Medium chain acyl-CoA dehydrogenase deficiency | -| Orphanet:102000 | Medullar disease | -| Orphanet:1309 | Medullary sponge kidney | -| Orphanet:1332 | Medullary thyroid carcinoma | -| Orphanet:616 | Medulloblastoma | -| Orphanet:251858 | Medulloblastoma with extensive nodularity | -| Orphanet:251883 | Medulloepithelioma of the central nervous system | -| Orphanet:98954 | Meesmann corneal dystrophy | -| Orphanet:97252 | Mega-cisterna magna | -| Orphanet:280671 | Megaconial congenital muscular dystrophy | -| Orphanet:238637 | Megacystis-megaureter syndrome | -| Orphanet:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | -| Orphanet:402023 | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | -| Orphanet:2478 | Megalencephalic leukoencephalopathy with subcortical cysts | -| Orphanet:2477 | Megalencephaly | -| Orphanet:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | -| Orphanet:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | -| Orphanet:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | -| Orphanet:2479 | Megalocornea-intellectual disability syndrome | -| Orphanet:90186 | Meige disease | -| Orphanet:314451 | Meigs syndrome | -| Orphanet:252206 | Melanoma and neural system tumor syndrome | -| Orphanet:97338 | Melanoma of soft tissue | -| Orphanet:2482 | Melhem-Fahl syndrome | -| Orphanet:31202 | Melioidosis | -| Orphanet:2483 | Melkersson-Rosenthal syndrome | -| Orphanet:2484 | Melnick-Needles syndrome | -| Orphanet:2485 | Melorheostosis | -| Orphanet:1879 | Melorheostosis with osteopoikilosis | -| Orphanet:748 | Mendelian susceptibility to mycobacterial diseases | -| Orphanet:99898 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | -| Orphanet:319547 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | -| Orphanet:319558 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | -| Orphanet:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | -| Orphanet:319563 | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | -| Orphanet:319600 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | -| Orphanet:319595 | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | -| Orphanet:252046 | Meningeal melanocytoma | -| Orphanet:2495 | Meningioma | -| Orphanet:33475 | Meningococcal meningitis | -| Orphanet:592574 | Menke-Hennekam syndrome | -| Orphanet:565 | Menkes disease | -| Orphanet:498251 | Menstrual cycle-dependent periodic fever | -| Orphanet:330021 | Mercury poisoning | -| Orphanet:99701 | Mesial temporal lobe epilepsy with hippocampal sclerosis | -| Orphanet:157801 | Mesoaxial synostotic syndactyly with phalangeal reduction | -| Orphanet:95443 | Mesocardia | -| Orphanet:2496 | Mesomelia-synostoses syndrome | -| Orphanet:93438 | Mesomelic and rhizo-mesomelic dysplasia | -| Orphanet:2634 | Mesomelic dwarfism, Reinhardt-Pfeiffer type | -| Orphanet:2631 | Mesomelic dwarfism-cleft palate-camptodactyly syndrome | -| Orphanet:1836 | Mesomelic dysplasia, Kantaputra type | -| Orphanet:2633 | Mesomelic dysplasia, Nievergelt type | -| Orphanet:85170 | Mesomelic dysplasia, Savarirayan type | -| Orphanet:632603 | Mesomelic dysplasia-digital anomalies-intellectual disability syndrome | -| Orphanet:309133 | Metabolic disease due to other fatty acid oxidation disorder | -| Orphanet:79219 | Metabolic disease involving other neurotransmitter deficiency | -| Orphanet:98644 | Metabolic disease with cataract | -| Orphanet:98543 | Metabolic disease with dementia | -| Orphanet:104013 | Metabolic disease with intestinal involvement | -| Orphanet:79387 | Metabolic disease with skin involvement | -| Orphanet:166481 | Metabolic diseases with epilepsy | -| Orphanet:98486 | Metabolic myopathy | -| Orphanet:171690 | Metabolic myopathy due to lactate transporter defect | -| Orphanet:225707 | Metabolic neurotransmission anomaly with epilepsy | -| Orphanet:2499 | Metachondromatosis | -| Orphanet:512 | Metachromatic leukodystrophy | -| Orphanet:309271 | Metachromatic leukodystrophy, adult form | -| Orphanet:309263 | Metachromatic leukodystrophy, juvenile form | -| Orphanet:309256 | Metachromatic leukodystrophy, late infantile form | -| Orphanet:225692 | Metal transport or utilization disorder with epilepsy | -| Orphanet:1240 | Metaphyseal acroscyphodysplasia | -| Orphanet:1040 | Metaphyseal anadysplasia | -| Orphanet:33067 | Metaphyseal chondrodysplasia, Jansen type | -| Orphanet:166038 | Metaphyseal chondrodysplasia, Kaitila type | -| Orphanet:174 | Metaphyseal chondrodysplasia, Schmid type | -| Orphanet:2501 | Metaphyseal chondrodysplasia, Spahr type | -| Orphanet:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | -| Orphanet:2502 | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | -| Orphanet:85188 | Metaphyseal dysplasia, Braun-Tinschert type | -| Orphanet:2504 | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | -| Orphanet:213531 | Metaplastic carcinoma of the breast | -| Orphanet:2635 | Metatropic dysplasia | -| Orphanet:31825 | Methanol poisoning | -| Orphanet:1923 | Methimazole embryofetopathy | -| Orphanet:168598 | Methionine adenosyltransferase I/III deficiency | -| Orphanet:565782 | Methotrexate toxicity | -| Orphanet:86904 | Methotrexate-associated lymphoproliferative disorders | -| Orphanet:308380 | Methylcobalamin deficiency type cblDv1 | -| Orphanet:2169 | Methylcobalamin deficiency type cblE | -| Orphanet:2170 | Methylcobalamin deficiency type cblG | -| Orphanet:308425 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | -| Orphanet:26 | Methylmalonic acidemia with homocystinuria | -| Orphanet:79284 | Methylmalonic acidemia with homocystinuria type cblF | -| Orphanet:79282 | Methylmalonic acidemia with homocystinuria, type cblC | -| Orphanet:79283 | Methylmalonic acidemia with homocystinuria, type cblD | -| Orphanet:369955 | Methylmalonic acidemia with homocystinuria, type cblJ | -| Orphanet:369962 | Methylmalonic acidemia with homocystinuria, type cblX | -| Orphanet:293355 | Methylmalonic acidemia without homocystinuria | -| Orphanet:280183 | Methylmalonic aciduria due to transcobalamin receptor defect | -| Orphanet:502430 | Metopic ridging-ptosis-facial dysmorphism syndrome | -| Orphanet:309025 | Mevalonate kinase deficiency | -| Orphanet:29 | Mevalonic aciduria | -| Orphanet:319308 | MiT family translocation renal cell carcinoma | -| Orphanet:2510 | Micro syndrome | -| Orphanet:98563 | Microblepharon-ablephara syndrome | -| Orphanet:2511 | Microbrachycephaly-ptosis-cleft lip syndrome | -| Orphanet:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | -| Orphanet:85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | -| Orphanet:2637 | Microcephalic osteodysplastic primordial dwarfism type II | -| Orphanet:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | -| Orphanet:324761 | Microcephalic primordial dwarfism | -| Orphanet:329228 | Microcephalic primordial dwarfism due to ZNF335 deficiency | -| Orphanet:319675 | Microcephalic primordial dwarfism, Dauber type | -| Orphanet:2617 | Microcephalic primordial dwarfism, Montreal type | -| Orphanet:2643 | Microcephalic primordial dwarfism, Toriello type | -| Orphanet:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | -| Orphanet:2513 | Microcephaly-albinism-digital anomalies syndrome | -| Orphanet:3433 | Microcephaly-brachydactyly-kyphoscoliosis syndrome | -| Orphanet:2523 | Microcephaly-brain defect-spasticity-hypernatremia syndrome | -| Orphanet:294016 | Microcephaly-capillary malformation syndrome | -| Orphanet:2516 | Microcephaly-cardiac defect-lung malsegmentation syndrome | -| Orphanet:2515 | Microcephaly-cardiomyopathy syndrome | -| Orphanet:329332 | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | -| Orphanet:2522 | Microcephaly-cervical spine fusion anomalies syndrome | -| Orphanet:2521 | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome | -| Orphanet:423894 | Microcephaly-complex motor and sensory axonal neuropathy syndrome | -| Orphanet:488168 | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | -| Orphanet:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | -| Orphanet:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | -| Orphanet:2533 | Microcephaly-deafness-intellectual disability syndrome | -| Orphanet:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | -| Orphanet:217026 | Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type | -| Orphanet:2172 | Microcephaly-glomerulonephritis-marfanoid habitus syndrome | -| Orphanet:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | -| Orphanet:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | -| Orphanet:2528 | Microcephaly-microcornea syndrome, Seemanova type | -| Orphanet:572768 | Microcephaly-micromelia syndrome | -| Orphanet:171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome | -| Orphanet:2519 | Microcephaly-seizures-intellectual disability-heart disease syndrome | -| Orphanet:423306 | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | -| Orphanet:572773 | Microcephaly-short stature-limb abnormalities syndrome | -| Orphanet:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | -| Orphanet:2536 | Microcornea-glaucoma-absent frontal sinuses syndrome | -| Orphanet:369970 | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | -| Orphanet:231736 | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome | -| Orphanet:79490 | Microcystic lymphatic malformation | -| Orphanet:569248 | Microcystic stromal tumor | -| Orphanet:83642 | Microcytic anemia with liver iron overload | -| Orphanet:217377 | Microduplication Xp11.22p11.23 syndrome | -| Orphanet:280200 | Microform holoprosencephaly | -| Orphanet:2538 | Microgastria-limb reduction defect syndrome | -| Orphanet:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | -| Orphanet:1083 | Microlissencephaly | -| Orphanet:50810 | Microlissencephaly-micromelia syndrome | -| Orphanet:139471 | Microphthalmia with brain and digit anomalies | -| Orphanet:1106 | Microphthalmia with limb anomalies | -| Orphanet:2556 | Microphthalmia with linear skin defects syndrome | -| Orphanet:568 | Microphthalmia, Lenz type | -| Orphanet:85275 | Microphthalmia-ankyloblepharon-intellectual disability syndrome | -| Orphanet:77299 | Microphthalmia-brain atrophy syndrome | -| Orphanet:2547 | Microphthalmia-microtia-fetal akinesia syndrome | -| Orphanet:251279 | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome | -| Orphanet:727 | Microscopic polyangiitis | -| Orphanet:2551 | Microspherophakia-metaphyseal dysplasia syndrome | -| Orphanet:2552 | Microsporidiosis | -| Orphanet:83463 | Microtia | -| Orphanet:139450 | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | -| Orphanet:289522 | Microtriplication 11q24.1 | -| Orphanet:2290 | Microvillus inclusion disease | -| Orphanet:166430 | Micturation-induced seizures | -| Orphanet:228299 | Mid-dermal elastolysis | -| Orphanet:576074 | Middle East respiratory syndrome | -| Orphanet:164004 | Middle and/or inner ear anomaly | -| Orphanet:100084 | Middle ear neuroendocrine tumor | -| Orphanet:268926 | Midline cerebral malformation | -| Orphanet:141288 | Midline cervical cleft | -| Orphanet:93926 | Midline interhemispheric variant of holoprosencephaly | -| Orphanet:2557 | Mietens syndrome | -| Orphanet:2558 | Mikati-Najjar-Sahli syndrome | -| Orphanet:314918 | Mild Canavan disease | -| Orphanet:169808 | Mild hemophilia A | -| Orphanet:169799 | Mild hemophilia B | -| Orphanet:79651 | Mild hyperphenylalaninemia | -| Orphanet:79253 | Mild phenylketonuria | -| Orphanet:411536 | Mild phosphoribosylpyrophosphate synthetase superactivity | -| Orphanet:93279 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | -| Orphanet:98919 | Miller Fisher syndrome | -| Orphanet:531 | Miller-Dieker syndrome | -| Orphanet:94091 | Mills syndrome | -| Orphanet:79452 | Milroy disease | -| Orphanet:352734 | Minimal pigment oculocutaneous albinism type 1 | -| Orphanet:521219 | Mirizzi syndrome | -| Orphanet:3004 | Mirror polydactyly-vertebral segmentation-limbs defects syndrome | -| Orphanet:498494 | Mirror-image polydactyly | -| Orphanet:307058 | Miscellaneous movement disorder due to genetic neurodegenerative disease | -| Orphanet:306695 | Miscellaneous movement disorder due to neurodegenerative disease | -| Orphanet:631248 | Mitchell Syndrome | -| Orphanet:35698 | Mitochondrial DNA depletion syndrome | -| Orphanet:254803 | Mitochondrial DNA depletion syndrome, encephalomyopathic form | -| Orphanet:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | -| Orphanet:255235 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | -| Orphanet:369897 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | -| Orphanet:254871 | Mitochondrial DNA depletion syndrome, hepatocerebral form | -| Orphanet:279934 | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | -| Orphanet:363534 | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | -| Orphanet:254875 | Mitochondrial DNA depletion syndrome, myopathic form | -| Orphanet:352456 | Mitochondrial DNA maintenance syndrome | -| Orphanet:255210 | Mitochondrial DNA-associated Leigh syndrome | -| Orphanet:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | -| Orphanet:254851 | Mitochondrial DNA-related dystonia | -| Orphanet:254788 | Mitochondrial DNA-related mitochondrial myopathy | -| Orphanet:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | -| Orphanet:68380 | Mitochondrial disease | -| Orphanet:225700 | Mitochondrial disease with epilepsy | -| Orphanet:225703 | Mitochondrial disease with peripheral neuropathy | -| Orphanet:309136 | Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes | -| Orphanet:35696 | Mitochondrial disorder due to a defect in mitochondrial protein synthesis | -| Orphanet:314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | -| Orphanet:289560 | Mitochondrial membrane protein-associated neurodegeneration | -| Orphanet:254827 | Mitochondrial membrane transport disorder | -| Orphanet:206966 | Mitochondrial myopathy | -| Orphanet:2598 | Mitochondrial myopathy and sideroblastic anemia | -| Orphanet:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | -| Orphanet:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | -| Orphanet:2597 | Mitochondrial myopathy-lactic acidosis-deafness syndrome | -| Orphanet:298 | Mitochondrial neurogastrointestinal encephalomyopathy | -| Orphanet:223713 | Mitochondrial oxidative phosphorylation disorder | -| Orphanet:254767 | Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA | -| Orphanet:254776 | Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA | -| Orphanet:254758 | Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies | -| Orphanet:2443 | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | -| Orphanet:254822 | Mitochondrial oxidative phosphorylation disorder with no known mechanism | -| Orphanet:254834 | Mitochondrial protein import disorder | -| Orphanet:447784 | Mitochondrial pyruvate carrier deficiency | -| Orphanet:254830 | Mitochondrial substrate carrier disorder | -| Orphanet:746 | Mitochondrial trifunctional protein deficiency | -| Orphanet:1205 | Mitral atresia | -| Orphanet:99062 | Mitral valve agenesis | -| Orphanet:324933 | Mixed autoinflammatory and autoimmune syndrome | -| Orphanet:809 | Mixed connective tissue disease | -| Orphanet:93554 | Mixed cryoglobulinemia type II | -| Orphanet:93555 | Mixed cryoglobulinemia type III | -| Orphanet:458792 | Mixed cystic lymphatic malformation | -| Orphanet:79380 | Mixed dermis disorder | -| Orphanet:314759 | Mixed functioning pituitary adenoma | -| Orphanet:180234 | Mixed germ cell tumor | -| Orphanet:252021 | Mixed germ cell tumor of central nervous system | -| Orphanet:506112 | Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas | -| Orphanet:251934 | Mixed neuronal-glial tumor | -| Orphanet:530995 | Mixed phenotype acute leukemia | -| Orphanet:589534 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) | -| Orphanet:589595 | Mixed phenotype acute leukemia with t(v;11q23.3) | -| Orphanet:324364 | Mixed sclerosing bone dystrophy with extra-skeletal manifestations | -| Orphanet:90036 | Mixed-type autoimmune hemolytic anemia | -| Orphanet:45448 | Miyoshi myopathy | -| Orphanet:169805 | Moderate hemophilia A | -| Orphanet:169796 | Moderate hemophilia B | -| Orphanet:178145 | Moderate multiminicore disease with hand involvement | -| Orphanet:263335 | Moderately-differentiated thymic neuroendocrine carcinoma | -| Orphanet:570 | Moebius syndrome | -| Orphanet:2560 | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome | -| Orphanet:52368 | Mohr-Tranebjaerg syndrome | -| Orphanet:573 | Monilethrix | -| Orphanet:3057 | Monoamine oxidase A deficiency | -| Orphanet:529468 | Monoclonal mast cell activation syndrome | -| Orphanet:228423 | Monocytopenia with susceptibility to infections | -| Orphanet:166472 | Monogenic disease with epilepsy | -| Orphanet:65684 | Monomelic amyotrophy | -| Orphanet:2565 | Mononen-Karnes-Senac syndrome | -| Orphanet:1587 | Monosomy 13q14 | -| Orphanet:96168 | Monosomy 13q34 | -| Orphanet:1598 | Monosomy 18p | -| Orphanet:1600 | Monosomy 18q | -| Orphanet:96123 | Monosomy 22 | -| Orphanet:48652 | Monosomy 22q13.3 | -| Orphanet:281 | Monosomy 5p | -| Orphanet:261112 | Monosomy 9p | -| Orphanet:77301 | Monosomy 9q22.3 | -| Orphanet:99226 | Monosomy X | -| Orphanet:93277 | Monostotic fibrous dysplasia | -| Orphanet:519408 | Mooren ulcer | -| Orphanet:77296 | Morgagni-Stewart-Morel syndrome | -| Orphanet:35737 | Morning glory disc anomaly | -| Orphanet:83467 | Morvan syndrome | -| Orphanet:634511 | Mosaic Legius syndrome | -| Orphanet:634475 | Mosaic NF2-related schwannomatosis | -| Orphanet:329813 | Mosaic genome-wide paternal uniparental disomy | -| Orphanet:99228 | Mosaic monosomy X | -| Orphanet:634461 | Mosaic neurofibromatosis type 1 | -| Orphanet:634492 | Mosaic schwannomatosis | -| Orphanet:1692 | Mosaic trisomy 1 | -| Orphanet:96063 | Mosaic trisomy 10 | -| Orphanet:1698 | Mosaic trisomy 12 | -| Orphanet:1703 | Mosaic trisomy 14 | -| Orphanet:1706 | Mosaic trisomy 15 | -| Orphanet:1708 | Mosaic trisomy 16 | -| Orphanet:1711 | Mosaic trisomy 17 | -| Orphanet:1723 | Mosaic trisomy 2 | -| Orphanet:1724 | Mosaic trisomy 20 | -| Orphanet:96068 | Mosaic trisomy 22 | -| Orphanet:100071 | Mosaic trisomy 3 | -| Orphanet:96059 | Mosaic trisomy 4 | -| Orphanet:96060 | Mosaic trisomy 5 | -| Orphanet:1747 | Mosaic trisomy 7 | -| Orphanet:96061 | Mosaic trisomy 8 | -| Orphanet:99776 | Mosaic trisomy 9 | -| Orphanet:1052 | Mosaic variegated aneuploidy syndrome | -| Orphanet:98503 | Motor neuron disease | -| Orphanet:306765 | Motor stereotypies | -| Orphanet:3347 | Mounier-Kühn syndrome | -| Orphanet:2152 | Mowat-Wilson syndrome | -| Orphanet:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | -| Orphanet:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | -| Orphanet:477768 | Moyamoya angiopathy | -| Orphanet:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | -| Orphanet:2573 | Moyamoya disease | -| Orphanet:401945 | Moyamoya disease with early-onset achalasia | -| Orphanet:2574 | Moynahan syndrome | -| Orphanet:100024 | Mu-heavy chain disease | -| Orphanet:398961 | Mucinous adenocarcinoma of ovary | -| Orphanet:391723 | Mucinous adenocarcinoma of the appendix | -| Orphanet:424053 | Mucinous cystadenocarcinoma of the pancreas | -| Orphanet:563671 | Mucinous cystadenoma of childhood | -| Orphanet:319322 | Mucinous tubular and spindle cell renal carcinoma | -| Orphanet:575 | Muckle-Wells syndrome | -| Orphanet:2451 | Mucocutaneous venous malformations | -| Orphanet:79212 | Mucolipidosis | -| Orphanet:576 | Mucolipidosis type II | -| Orphanet:577 | Mucolipidosis type III | -| Orphanet:423461 | Mucolipidosis type III alpha/beta | -| Orphanet:423470 | Mucolipidosis type III gamma | -| Orphanet:578 | Mucolipidosis type IV | -| Orphanet:579 | Mucopolysaccharidosis type 1 | -| Orphanet:580 | Mucopolysaccharidosis type 2 | -| Orphanet:217093 | Mucopolysaccharidosis type 2, attenuated form | -| Orphanet:217085 | Mucopolysaccharidosis type 2, severe form | -| Orphanet:581 | Mucopolysaccharidosis type 3 | -| Orphanet:582 | Mucopolysaccharidosis type 4 | -| Orphanet:309297 | Mucopolysaccharidosis type 4A | -| Orphanet:309310 | Mucopolysaccharidosis type 4B | -| Orphanet:583 | Mucopolysaccharidosis type 6 | -| Orphanet:276212 | Mucopolysaccharidosis type 6, rapidly progressing | -| Orphanet:276223 | Mucopolysaccharidosis type 6, slowly progressing | -| Orphanet:584 | Mucopolysaccharidosis type 7 | -| Orphanet:79388 | Mucopolysaccharidosis with skin involvement | -| Orphanet:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | -| Orphanet:46486 | Mucous membrane pemphigoid | -| Orphanet:566943 | Mueller-Weiss syndrome | -| Orphanet:53271 | Muenke syndrome | -| Orphanet:587 | Muir-Torre syndrome | -| Orphanet:2576 | Mulibrey nanism | -| Orphanet:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | -| Orphanet:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | -| Orphanet:139436 | Multicentric reticulohistiocytosis | -| Orphanet:1851 | Multicystic dysplastic kidney | -| Orphanet:3282 | Multifocal atrial tachycardia | -| Orphanet:464321 | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome | -| Orphanet:641 | Multifocal motor neuropathy | -| Orphanet:99003 | Multifocal pattern dystrophy simulating fundus flavimaculatus | -| Orphanet:645854 | Multifocal tuberculosis | -| Orphanet:319287 | Multilocular cystic renal neoplasm of low malignant potential | -| Orphanet:97366 | Multiloculated renal cyst | -| Orphanet:598 | Multiminicore myopathy | -| Orphanet:2091 | Multinodular goiter-cystic kidney-polydactyly syndrome | -| Orphanet:500135 | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | -| Orphanet:26791 | Multiple acyl-CoA dehydrogenase deficiency | -| Orphanet:394532 | Multiple acyl-CoA dehydrogenase deficiency, mild type | -| Orphanet:394529 | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | -| Orphanet:2505 | Multiple benign circumferential skin creases on limbs | -| Orphanet:148 | Multiple carboxylase deficiency | -| Orphanet:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | -| Orphanet:300496 | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | -| Orphanet:68341 | Multiple congenital anomalies/dysmorphic syndrome | -| Orphanet:102285 | Multiple congenital anomalies/dysmorphic syndrome without intellectual disability | -| Orphanet:102283 | Multiple congenital anomalies/dysmorphic syndrome-intellectual disability | -| Orphanet:276161 | Multiple endocrine neoplasia | -| Orphanet:652 | Multiple endocrine neoplasia type 1 | -| Orphanet:653 | Multiple endocrine neoplasia type 2 | -| Orphanet:247698 | Multiple endocrine neoplasia type 2A | -| Orphanet:247709 | Multiple endocrine neoplasia type 2B | -| Orphanet:276152 | Multiple endocrine neoplasia type 4 | -| Orphanet:251 | Multiple epiphyseal dysplasia | -| Orphanet:93429 | Multiple epiphyseal dysplasia and pseudoachondroplasia | -| Orphanet:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | -| Orphanet:93308 | Multiple epiphyseal dysplasia type 1 | -| Orphanet:93307 | Multiple epiphyseal dysplasia type 4 | -| Orphanet:93311 | Multiple epiphyseal dysplasia type 5 | -| Orphanet:647676 | Multiple epiphyseal dysplasia type 7 | -| Orphanet:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | -| Orphanet:166011 | Multiple epiphyseal dysplasia, Beighton type | -| Orphanet:166016 | Multiple epiphyseal dysplasia, Lowry type | -| Orphanet:166032 | Multiple epiphyseal dysplasia, with miniepiphyses | -| Orphanet:166029 | Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | -| Orphanet:2300 | Multiple intestinal atresia | -| Orphanet:93430 | Multiple metaphyseal dysplasia | -| Orphanet:254807 | Multiple mitochondrial DNA deletion syndrome | -| Orphanet:289573 | Multiple mitochondrial dysfunctions syndrome | -| Orphanet:401869 | Multiple mitochondrial dysfunctions syndrome type 1 | -| Orphanet:401874 | Multiple mitochondrial dysfunctions syndrome type 2 | -| Orphanet:363424 | Multiple mitochondrial dysfunctions syndrome type 3 | -| Orphanet:457406 | Multiple mitochondrial dysfunctions syndrome type 4 | -| Orphanet:569274 | Multiple mitochondrial dysfunctions syndrome type 5 | -| Orphanet:569290 | Multiple mitochondrial dysfunctions syndrome type 6 | -| Orphanet:29073 | Multiple myeloma | -| Orphanet:321 | Multiple osteochondromas | -| Orphanet:324299 | Multiple paragangliomas associated with polycythemia | -| Orphanet:100094 | Multiple polyglandular tumor | -| Orphanet:294060 | Multiple pterygium syndrome | -| Orphanet:2215 | Multiple pterygium-malignant hyperthermia syndrome | -| Orphanet:228145 | Multiple sclerosis variant | -| Orphanet:3151 | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome | -| Orphanet:65748 | Multiple self-healing squamous epithelioma | -| Orphanet:585 | Multiple sulfatase deficiency | -| Orphanet:2398 | Multiple symmetric lipomatosis | -| Orphanet:3237 | Multiple synostoses syndrome | -| Orphanet:102 | Multiple system atrophy | -| Orphanet:227510 | Multiple system atrophy, cerebellar type | -| Orphanet:98933 | Multiple system atrophy, parkinsonian type | -| Orphanet:598363 | Multisystem inflammatory syndrome in children and adults | -| Orphanet:404463 | Multisystemic smooth muscle dysfunction syndrome | -| Orphanet:83315 | Murine typhus | -| Orphanet:171445 | Muscle filaminopathy | -| Orphanet:588 | Muscle-eye-brain disease | -| Orphanet:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | -| Orphanet:2579 | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | -| Orphanet:71864 | Muscular channelopathy | -| Orphanet:98473 | Muscular dystrophy | -| Orphanet:199340 | Muscular dystrophy, Selcen type | -| Orphanet:206959 | Muscular glycogenosis | -| Orphanet:324416 | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome | -| Orphanet:206953 | Muscular lipidosis | -| Orphanet:2349 | Muscular pseudohypertrophy-hypothyroidism syndrome | -| Orphanet:206982 | Muscular tumor | -| Orphanet:2953 | Musculocontractural Ehlers-Danlos syndrome | -| Orphanet:98648 | Musculoskeletal disease with cataract | -| Orphanet:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | -| Orphanet:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | -| Orphanet:2582 | Myalgia-eosinophilia syndrome associated with tryptophan | -| Orphanet:589 | Myasthenia gravis | -| Orphanet:2583 | Mycetoma | -| Orphanet:268249 | Mycophenolate mofetil embryopathy | -| Orphanet:83482 | Mycoplasma encephalitis | -| Orphanet:645378 | Myelic limited dorsal malformation | -| Orphanet:268813 | Myelocystocele | -| Orphanet:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | -| Orphanet:86850 | Myeloid sarcoma | -| Orphanet:168953 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement | -| Orphanet:589542 | Myeloid/lymphoid neoplasm associated with JAK2 rearrangement | -| Orphanet:168947 | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement | -| Orphanet:168950 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement | -| Orphanet:2587 | Myeloperoxidase deficiency | -| Orphanet:645398 | Myeloschisis | -| Orphanet:2588 | Myhre syndrome | -| Orphanet:75110 | Myiasis | -| Orphanet:86913 | Myoclonic epilepsy in non-progressive encephalopathies | -| Orphanet:86909 | Myoclonic epilepsy of infancy | -| Orphanet:1942 | Myoclonic-astatic epilepsy | -| Orphanet:2589 | Myoclonus-cerebellar ataxia-deafness syndrome | -| Orphanet:36899 | Myoclonus-dystonia syndrome | -| Orphanet:593 | Myofibrillar myopathy | -| Orphanet:536516 | Myopathic Ehlers-Danlos syndrome | -| Orphanet:104077 | Myopathic intestinal pseudoobstruction | -| Orphanet:2596 | Myopathy and diabetes mellitus | -| Orphanet:171889 | Myopathy with hexagonally cross-linked tubular arrays | -| Orphanet:289685 | Myopericytoma | -| Orphanet:178493 | Myopic macular degeneration | -| Orphanet:289380 | Myosclerosis | -| Orphanet:53698 | Myosin storage myopathy | -| Orphanet:306553 | Myospherulosis | -| Orphanet:209224 | Myotilinopathy | -| Orphanet:99734 | Myotonia fluctuans | -| Orphanet:99735 | Myotonia permanens | -| Orphanet:206647 | Myotonic dystrophy | -| Orphanet:206970 | Myotonic syndrome | -| Orphanet:79105 | Myxofibrosarcoma | -| Orphanet:99967 | Myxoid/round cell liposarcoma | -| Orphanet:251643 | Myxopapillary ependymoma | -| Orphanet:2494 | Ménétrier disease | -| Orphanet:247768 | Müllerian aplasia and hyperandrogenism | -| Orphanet:1655 | Müllerian derivatives-lymphangiectasia-polydactyly syndrome | -| Orphanet:2491 | Müllerian duct anomalies-limb anomalies syndrome | -| Orphanet:2608 | N syndrome | -| Orphanet:555402 | NAD(P)HX dehydratase deficiency | -| Orphanet:555407 | NAD(P)HX epimerase deficiency | -| Orphanet:644 | NARP syndrome | -| Orphanet:443162 | NDE1-related microhydranencephaly | -| Orphanet:464366 | NEK9-related lethal skeletal dysplasia | -| Orphanet:370059 | NEVADA syndrome | -| Orphanet:447731 | NIK deficiency | -| Orphanet:263665 | NK-cell enteropathy | -| Orphanet:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | -| Orphanet:576349 | NLRC4-related familial cold autoinflammatory syndrome | -| Orphanet:247868 | NLRP12-associated hereditary periodic fever syndrome | -| Orphanet:217253 | NMDA receptor encephalitis | -| Orphanet:3032 | NPHP3-related Meckel-like syndrome | -| Orphanet:600663 | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | -| Orphanet:454840 | NTHL1-related attenuated familial adenomatous polyposis | -| Orphanet:443167 | NUT midline carcinoma | -| Orphanet:69087 | Naegeli-Franceschetti-Jadassohn syndrome | -| Orphanet:245 | Nager syndrome | -| Orphanet:423454 | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | -| Orphanet:79368 | Nail anomaly | -| Orphanet:2614 | Nail-patella syndrome | -| Orphanet:2613 | Nail-patella-like renal disease | -| Orphanet:627 | Nance-Horan syndrome | -| Orphanet:35612 | Nanophthalmos | -| Orphanet:619284 | Narcolepsy | -| Orphanet:2073 | Narcolepsy type 1 | -| Orphanet:83465 | Narcolepsy type 2 | -| Orphanet:141103 | Nasal dermoid cyst | -| Orphanet:141219 | Nasal dorsum fistula | -| Orphanet:141118 | Nasal encephalocele | -| Orphanet:141115 | Nasal ganglioglioma | -| Orphanet:141112 | Nasal glial heterotopia | -| Orphanet:141083 | Nasolacrimal duct cyst | -| Orphanet:2399 | Nasopalpebral lipoma-coloboma syndrome | -| Orphanet:150 | Nasopharyngeal carcinoma | -| Orphanet:141107 | Nasopharyngeal teratoma | -| Orphanet:2770 | Nasu-Hakola disease | -| Orphanet:2663 | Nathalie syndrome | -| Orphanet:168572 | Native American myopathy | -| Orphanet:255229 | Navajo neurohepatopathy | -| Orphanet:34217 | Naxos disease | -| Orphanet:542592 | Necrobiosis lipoidica | -| Orphanet:158011 | Necrobiotic xanthogranuloma | -| Orphanet:391673 | Necrotizing enterocolitis | -| Orphanet:440368 | Necrotizing soft tissue infection | -| Orphanet:199244 | Nelson syndrome | -| Orphanet:607 | Nemaline myopathy | -| Orphanet:284979 | Neonatal Marfan syndrome | -| Orphanet:217563 | Neonatal acute respiratory distress due to SP-B deficiency | -| Orphanet:44 | Neonatal adrenoleukodystrophy | -| Orphanet:464370 | Neonatal alloimmune neutropenia | -| Orphanet:398097 | Neonatal antiphospholipid syndrome | -| Orphanet:398109 | Neonatal autoimmune hemolytic anemia | -| Orphanet:137929 | Neonatal brainstem dysfunction | -| Orphanet:641829 | Neonatal compartment syndrome | -| Orphanet:398117 | Neonatal dermatomyositis | -| Orphanet:224 | Neonatal diabetes mellitus | -| Orphanet:79118 | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome | -| Orphanet:457185 | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | -| Orphanet:98257 | Neonatal epilepsy syndrome | -| Orphanet:557064 | Neonatal epileptic encephalopathy due to glutaminase deficiency | -| Orphanet:289857 | Neonatal glycine encephalopathy | -| Orphanet:446 | Neonatal hemochromatosis | -| Orphanet:137577 | Neonatal hypoxic and ischemic brain injury | -| Orphanet:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | -| Orphanet:294023 | Neonatal inflammatory skin and bowel disease | -| Orphanet:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | -| Orphanet:238688 | Neonatal iodine exposure | -| Orphanet:398124 | Neonatal lupus erythematosus | -| Orphanet:93443 | Neonatal osteosclerotic dysplasia | -| Orphanet:398127 | Neonatal scleroderma | -| Orphanet:466784 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | -| Orphanet:417 | Neonatal severe primary hyperparathyroidism | -| Orphanet:619363 | Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 | -| Orphanet:94058 | Neovascular glaucoma | -| Orphanet:654 | Nephroblastoma | -| Orphanet:223 | Nephrogenic diabetes insipidus | -| Orphanet:3145 | Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome | -| Orphanet:93606 | Nephrogenic syndrome of inappropriate antidiuresis | -| Orphanet:137617 | Nephrogenic systemic fibrosis | -| Orphanet:655 | Nephronophthisis | -| Orphanet:93593 | Nephropathy secondary to a storage or other metabolic disease | -| Orphanet:2668 | Nephropathy-deafness-hyperparathyroidism syndrome | -| Orphanet:2669 | Nephrosis-deafness-urinary tract-digital malformations syndrome | -| Orphanet:300333 | Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome | -| Orphanet:280576 | Nestor-Guillermo progeria syndrome | -| Orphanet:634 | Netherton syndrome | -| Orphanet:2671 | Neu-Laxova syndrome | -| Orphanet:583607 | Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency | -| Orphanet:583612 | Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency | -| Orphanet:583602 | Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency | -| Orphanet:99078 | Neuhauser anomaly | -| Orphanet:2672 | Neuhauser-Eichner-Opitz syndrome | -| Orphanet:268357 | Neural tube closure defect | -| Orphanet:3388 | Neural tube defect | -| Orphanet:2901 | Neuralgic amyotrophy | -| Orphanet:268865 | Neurenteric cyst | -| Orphanet:140653 | Neuro-ophthalmological disease | -| Orphanet:263440 | Neuroacanthocytosis | -| Orphanet:635 | Neuroblastoma | -| Orphanet:2481 | Neurocutaneous melanocytosis | -| Orphanet:166466 | Neurocutaneous syndrome with epilepsy | -| Orphanet:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | -| Orphanet:385 | Neurodegeneration with brain iron accumulation | -| Orphanet:306719 | Neurodegenerative disease with chorea | -| Orphanet:98534 | Neurodegenerative disease with dementia | -| Orphanet:217382 | Neurodegenerative syndrome due to cerebral folate transport deficiency | -| Orphanet:641361 | Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome | -| Orphanet:647788 | Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome | -| Orphanet:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | -| Orphanet:453499 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome | -| Orphanet:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | -| Orphanet:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | -| Orphanet:33445 | Neuroectodermal melanolysosomal disease | -| Orphanet:506098 | Neuroendocrine carcinoma of pancreas | -| Orphanet:217560 | Neuroendocrine cell hyperplasia of infancy | -| Orphanet:877 | Neuroendocrine neoplasm | -| Orphanet:100079 | Neuroendocrine neoplasm of appendix | -| Orphanet:506136 | Neuroendocrine neoplasm of esophagus | -| Orphanet:506052 | Neuroendocrine neoplasm of pancreas | -| Orphanet:100082 | Neuroendocrine tumor of anal canal | -| Orphanet:97253 | Neuroendocrine tumor of pancreas | -| Orphanet:100075 | Neuroendocrine tumor of stomach | -| Orphanet:100080 | Neuroendocrine tumor of the colon | -| Orphanet:100081 | Neuroendocrine tumor of the rectum | -| Orphanet:100101 | Neuroendocrine tumor with other location | -| Orphanet:2673 | Neurofaciodigitorenal syndrome | -| Orphanet:157846 | Neuroferritinopathy | -| Orphanet:252183 | Neurofibroma | -| Orphanet:636 | Neurofibromatosis type 1 | -| Orphanet:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | -| Orphanet:638 | Neurofibromatosis-Noonan syndrome | -| Orphanet:634518 | Neurofibromatosis/schwannomatosis | -| Orphanet:1143 | Neurogenic arthrogryposis multiplex congenita | -| Orphanet:85146 | Neurogenic scapuloperoneal syndrome, Kaeser type | -| Orphanet:100073 | Neurogenic thoracic outlet syndrome | -| Orphanet:94093 | Neuroleptic malignant syndrome | -| Orphanet:137754 | Neurological conditions associated with aminoacylase 1 deficiency | -| Orphanet:98740 | Neurological muscular channelopathy due to a genetic calcium channel defect | -| Orphanet:98739 | Neurological muscular channelopathy due to a genetic chloride channel defect | -| Orphanet:98741 | Neurological muscular channelopathy due to a genetic potassium channel defect | -| Orphanet:98742 | Neurological muscular channelopathy due to a genetic ryanodine receptor defect | -| Orphanet:98738 | Neurological muscular channelopathy due to a genetic sodium channel defect | -| Orphanet:206586 | Neurolymphomatosis | -| Orphanet:68385 | Neurometabolic disease | -| Orphanet:35705 | Neurometabolic disorder due to serine deficiency | -| Orphanet:68381 | Neuromuscular disease | -| Orphanet:98491 | Neuromuscular junction disease | -| Orphanet:71211 | Neuromyelitis optica spectrum disorder | -| Orphanet:592850 | Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies | -| Orphanet:592856 | Neuromyelitis optica spectrum disorder with anti-MOG antibodies | -| Orphanet:592869 | Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies | -| Orphanet:216 | Neuronal ceroid lipofuscinosis | -| Orphanet:99811 | Neuronal intestinal pseudoobstruction | -| Orphanet:2289 | Neuronal intranuclear inclusion disease | -| Orphanet:251924 | Neuronal tumor | -| Orphanet:139512 | Neuropathy with hearing impairment | -| Orphanet:137596 | Neurotrophic keratopathy | -| Orphanet:102006 | Neurovascular malformation | -| Orphanet:165 | Neutral lipid storage disease | -| Orphanet:98907 | Neutral lipid storage disease with ichthyosis | -| Orphanet:98908 | Neutral lipid storage myopathy | -| Orphanet:2690 | Neutropenia-monocytopenia-deafness syndrome | -| Orphanet:183707 | Neutrophil immunodeficiency syndrome | -| Orphanet:64754 | Nevus comedonicus syndrome | -| Orphanet:263432 | Nevus of Ito | -| Orphanet:263425 | Nevus of Ota | -| Orphanet:363558 | New-onset refractory status epilepticus | -| Orphanet:3051 | Nicolaides-Baraitser syndrome | -| Orphanet:646 | Niemann-Pick disease type C | -| Orphanet:216986 | Niemann-Pick disease type C, adult neurologic onset | -| Orphanet:216981 | Niemann-Pick disease type C, juvenile neurologic onset | -| Orphanet:216978 | Niemann-Pick disease type C, late infantile neurologic onset | -| Orphanet:216975 | Niemann-Pick disease type C, severe early infantile neurologic onset | -| Orphanet:216972 | Niemann-Pick disease type C, severe perinatal form | -| Orphanet:1390 | Night blindness-skeletal anomalies-dysmorphism syndrome | -| Orphanet:647 | Nijmegen breakage syndrome | -| Orphanet:240760 | Nijmegen breakage syndrome-like disorder | -| Orphanet:99825 | Nipah virus disease | -| Orphanet:31204 | Nocardiosis | -| Orphanet:86867 | Nodal marginal zone B-cell lymphoma | -| Orphanet:137810 | Nodular cutaneous amyloidosis | -| Orphanet:477742 | Nodular fasciitis | -| Orphanet:90393 | Nodular lichen myxedematosus | -| Orphanet:86893 | Nodular lymphocyte predominant Hodgkin lymphoma | -| Orphanet:2149 | Nodular neuronal heterotopia | -| Orphanet:33577 | Nodular non-suppurative panniculitis | -| Orphanet:48372 | Nodular regenerative hyperplasia of the liver | -| Orphanet:158772 | Nodular urticaria pigmentosa | -| Orphanet:2700 | Noma | -| Orphanet:306759 | Non progressive epilepsy and/or ataxia with myoclonus as a major feature | -| Orphanet:294953 | Non syndromic limb overgrowth | -| Orphanet:73267 | Non-24-hour sleep-wake syndrome | -| Orphanet:157987 | Non-Langerhans cell histiocytosis | -| Orphanet:178025 | Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations | -| Orphanet:467 | Non-acquired combined pituitary hormone deficiency | -| Orphanet:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | -| Orphanet:631 | Non-acquired isolated growth hormone deficiency | -| Orphanet:90695 | Non-acquired panhypopituitarism | -| Orphanet:95488 | Non-acquired pituitary hormone deficiency | -| Orphanet:95710 | Non-acquired premature ovarian failure | -| Orphanet:97566 | Non-amyloid fibrillary glomerulopathy | -| Orphanet:86861 | Non-amyloid monoclonal immunoglobulin deposition disease | -| Orphanet:289362 | Non-central nervous system-localized embryonal carcinoma | -| Orphanet:325529 | Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | -| Orphanet:1581 | Non-distal deletion 10q | -| Orphanet:96160 | Non-distal deletion 12q | -| Orphanet:1695 | Non-distal duplication 10q | -| Orphanet:1702 | Non-distal duplication 13q | -| Orphanet:96112 | Non-distal duplication 9q | -| Orphanet:206656 | Non-dystrophic myopathy | -| Orphanet:2337 | Non-epidermolytic palmoplantar keratoderma | -| Orphanet:2972 | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | -| Orphanet:217629 | Non-familial dilated cardiomyopathy | -| Orphanet:217720 | Non-familial restrictive cardiomyopathy | -| Orphanet:506075 | Non-functioning neuroendocrine tumor of pancreas | -| Orphanet:94080 | Non-functioning paraganglioma | -| Orphanet:91349 | Non-functioning pituitary adenoma | -| Orphanet:218439 | Non-genetic cardiac rhythm disease | -| Orphanet:650102 | Non-genetic central precocious puberty in male | -| Orphanet:247239 | Non-hereditary degenerative ataxia | -| Orphanet:357034 | Non-hereditary retinoblastoma | -| Orphanet:658 | Non-histaminic angioedema | -| Orphanet:329883 | Non-hypoproteinemic hypertrophic gastropathy | -| Orphanet:363999 | Non-immune hydrops fetalis | -| Orphanet:306648 | Non-infectious anterior uveitis | -| Orphanet:90061 | Non-infectious posterior uveitis | -| Orphanet:496924 | Non-inflammatory vasculopathy | -| Orphanet:276608 | Non-insulinoma pancreatogenous hypoglycemia syndrome | -| Orphanet:141179 | Non-involuting congenital hemangioma | -| Orphanet:209989 | Non-papillary transitional cell carcinoma of the bladder | -| Orphanet:208989 | Non-paraneoplastic sensory ganglionopathy | -| Orphanet:314647 | Non-progressive cerebellar ataxia with intellectual disability | -| Orphanet:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | -| Orphanet:439202 | Non-recovering obstetric brachial plexus lesion | -| Orphanet:176 | Non-rhizomelic chondrodysplasia punctata | -| Orphanet:645343 | Non-saccular limited dorsal myeloschisis | -| Orphanet:363494 | Non-seminomatous germ cell tumor of testis | -| Orphanet:624199 | Non-specific autoimmune brainstem encephalitis with characteristic antibodies | -| Orphanet:624216 | Non-specific autoimmune brainstem encephalitis without characteristic antibodies | -| Orphanet:624259 | Non-specific autoimmune cerebellar ataxia with characteristic antibodies | -| Orphanet:624268 | Non-specific autoimmune cerebellar ataxia without characteristic antibodies | -| Orphanet:624166 | Non-specific autoimmune supratentorial encephalitis with characteristic antibodies | -| Orphanet:624178 | Non-specific autoimmune supratentorial encephalitis without characteristic antibodies | -| Orphanet:442835 | Non-specific early-onset epileptic encephalopathy | -| Orphanet:91364 | Non-specific interstitial pneumonia | -| Orphanet:528084 | Non-specific syndromic intellectual disability | -| Orphanet:90031 | Non-spherocytic hemolytic anemia due to hexokinase deficiency | -| Orphanet:601033 | Non-syndromic anorectal malformation with H-type fistula | -| Orphanet:601008 | Non-syndromic anorectal malformation with anal stenosis | -| Orphanet:600952 | Non-syndromic anorectal malformation with perineal fistula | -| Orphanet:601013 | Non-syndromic anorectal malformation with pouch colon | -| Orphanet:601018 | Non-syndromic anorectal malformation with rectal atresia | -| Orphanet:601023 | Non-syndromic anorectal malformation with rectal stenosis | -| Orphanet:600961 | Non-syndromic anorectal malformation with rectourethral fistula | -| Orphanet:600966 | Non-syndromic anorectal malformation with rectourethral fistula, bulbar type | -| Orphanet:600975 | Non-syndromic anorectal malformation with rectourethral fistula, prostatic type | -| Orphanet:601028 | Non-syndromic anorectal malformation with rectovaginal fistula | -| Orphanet:600984 | Non-syndromic anorectal malformation with rectovesical fistula | -| Orphanet:600993 | Non-syndromic anorectal malformation with vestibular fistula | -| Orphanet:601002 | Non-syndromic anorectal malformation without fistula | -| Orphanet:620198 | Non-syndromic bicoronal and metopic craniosynostosis | -| Orphanet:620205 | Non-syndromic bicoronal and sagittal craniosynostosis | -| Orphanet:35099 | Non-syndromic bicoronal craniosynostosis | -| Orphanet:1516 | Non-syndromic bilambdoid and sagittal craniosynostosis | -| Orphanet:620178 | Non-syndromic bilambdoid craniosynostosis | -| Orphanet:648992 | Non-syndromic bridging bronchus | -| Orphanet:108989 | Non-syndromic central nervous system malformation | -| Orphanet:199633 | Non-syndromic cerebral malformation | -| Orphanet:163209 | Non-syndromic cerebral malformation due to abnormal neuronal migration | -| Orphanet:600998 | Non-syndromic cloacal malformation | -| Orphanet:498470 | Non-syndromic complex polydactyly | -| Orphanet:649010 | Non-syndromic congenital bronchial atresia | -| Orphanet:139390 | Non-syndromic craniosynostosis | -| Orphanet:108977 | Non-syndromic diaphragmatic or abdominal wall malformation | -| Orphanet:180776 | Non-syndromic diaphragmatic or thoracic malformation | -| Orphanet:108959 | Non-syndromic esophageal malformation | -| Orphanet:108963 | Non-syndromic gastroduodenal malformation | -| Orphanet:87884 | Non-syndromic genetic deafness | -| Orphanet:109011 | Non-syndromic limb malformation | -| Orphanet:93457 | Non-syndromic limb reduction defect | -| Orphanet:276234 | Non-syndromic male infertility due to sperm motility disorder | -| Orphanet:620192 | Non-syndromic metopic and sagittal craniosynostosis | -| Orphanet:3366 | Non-syndromic metopic craniosynostosis | -| Orphanet:620152 | Non-syndromic multisutural craniosynostosis | -| Orphanet:620158 | Non-syndromic non-specific multisutural craniosynostosis | -| Orphanet:620212 | Non-syndromic pansynostosis | -| Orphanet:2913 | Non-syndromic polydactyly | -| Orphanet:93458 | Non-syndromic polydactyly, syndactyly and/or hyperphalangy | -| Orphanet:98523 | Non-syndromic pontocerebellar hypoplasia | -| Orphanet:498467 | Non-syndromic postaxial polydactyly | -| Orphanet:95706 | Non-syndromic posterior hypospadias | -| Orphanet:498464 | Non-syndromic preaxial polydactyly | -| Orphanet:108993 | Non-syndromic respiratory or mediastinal malformation | -| Orphanet:35093 | Non-syndromic sagittal craniosynostosis | -| Orphanet:90025 | Non-syndromic syndactyly | -| Orphanet:620186 | Non-syndromic unicoronal and sagittal craniosynostosis | -| Orphanet:620102 | Non-syndromic unicoronal craniosynostosis | -| Orphanet:620139 | Non-syndromic unifrontosphenoidal craniosynostosis | -| Orphanet:620113 | Non-syndromic unilambdoid craniosynostosis | -| Orphanet:620146 | Non-syndromic unisquamosal craniosynostosis | -| Orphanet:620096 | Non-syndromic unisutural craniosynostosis | -| Orphanet:645340 | Non-terminal myelocystocele | -| Orphanet:648 | Noonan syndrome | -| Orphanet:98733 | Noonan syndrome and Noonan-related syndrome | -| Orphanet:500 | Noonan syndrome with multiple lentigines | -| Orphanet:363972 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | -| Orphanet:2701 | Noonan syndrome-like disorder with loose anagen hair | -| Orphanet:432 | Normosmic congenital hypogonadotropic hypogonadism | -| Orphanet:649 | Norrie disease | -| Orphanet:75327 | North Carolina macular dystrophy | -| Orphanet:156246 | Nose and cavum anomaly | -| Orphanet:314790 | Null pituitary adenoma | -| Orphanet:280234 | Null syndrome | -| Orphanet:99965 | O'Sullivan-McLeod syndrome | -| Orphanet:2760 | OSLAM syndrome | -| Orphanet:397615 | Obesity due to CEP19 deficiency | -| Orphanet:369873 | Obesity due to SIM1 deficiency | -| Orphanet:66628 | Obesity due to congenital leptin deficiency | -| Orphanet:179490 | Obesity due to congenital leptin resistance | -| Orphanet:179494 | Obesity due to leptin receptor gene deficiency | -| Orphanet:71529 | Obesity due to melanocortin 4 receptor deficiency | -| Orphanet:71526 | Obesity due to pro-opiomelanocortin deficiency | -| Orphanet:71528 | Obesity due to prohormone convertase I deficiency | -| Orphanet:88643 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | -| Orphanet:141253 | Oblique facial cleft | -| Orphanet:268823 | Occipital encephalocele | -| Orphanet:198 | Occipital horn syndrome | -| Orphanet:280640 | Occipital pachygyria and polymicrogyria | -| Orphanet:247834 | Occult macular dystrophy | -| Orphanet:2704 | Ochoa syndrome | -| Orphanet:284804 | Ocular albinism | -| Orphanet:1000 | Ocular albinism with late-onset sensorineural deafness | -| Orphanet:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | -| Orphanet:99922 | Ocular cicatricial pemphigoid | -| Orphanet:411641 | Ocular cystinosis | -| Orphanet:1125 | Ocular motor apraxia, Cogan type | -| Orphanet:141132 | Oculo-auriculo-vertebral spectrum | -| Orphanet:2714 | Oculo-palato-cerebral syndrome | -| Orphanet:157962 | Oculoauricular syndrome, Schorderet type | -| Orphanet:398156 | Oculoauriculofrontonasal syndrome | -| Orphanet:2549 | Oculoauriculovertebral spectrum with radial defects | -| Orphanet:2719 | Oculocerebral hypopigmentation syndrome, Cross type | -| Orphanet:2720 | Oculocerebral hypopigmentation syndrome, Preus type | -| Orphanet:1647 | Oculocerebrocutaneous syndrome | -| Orphanet:2707 | Oculocerebrofacial syndrome, Kaufman type | -| Orphanet:534 | Oculocerebrorenal syndrome of Lowe | -| Orphanet:55 | Oculocutaneous albinism | -| Orphanet:352731 | Oculocutaneous albinism type 1 | -| Orphanet:79431 | Oculocutaneous albinism type 1A | -| Orphanet:79434 | Oculocutaneous albinism type 1B | -| Orphanet:79432 | Oculocutaneous albinism type 2 | -| Orphanet:79433 | Oculocutaneous albinism type 3 | -| Orphanet:79435 | Oculocutaneous albinism type 4 | -| Orphanet:370091 | Oculocutaneous albinism type 5 | -| Orphanet:370097 | Oculocutaneous albinism type 6 | -| Orphanet:352745 | Oculocutaneous albinism type 7 | -| Orphanet:597733 | Oculocutaneous albinism type 8 | -| Orphanet:98706 | Oculocutaneous or ocular albinism | -| Orphanet:2709 | Oculodental syndrome, Rutherfurd type | -| Orphanet:2710 | Oculodentodigital dysplasia | -| Orphanet:2712 | Oculofaciocardiodental syndrome | -| Orphanet:1876 | Oculogastrointestinal muscular dystrophy | -| Orphanet:611201 | Oculogastrointestinal-neurodevelopmental syndrome | -| Orphanet:1794 | Oculomaxillofacial dysostosis | -| Orphanet:98688 | Oculomotor apraxia | -| Orphanet:2713 | Oculoosteocutaneous syndrome | -| Orphanet:99806 | Oculootodental syndrome | -| Orphanet:270 | Oculopharyngeal muscular dystrophy | -| Orphanet:98897 | Oculopharyngodistal myopathy | -| Orphanet:557003 | Oculoskeletodental syndrome | -| Orphanet:2717 | Oculotrichoanal syndrome | -| Orphanet:2718 | Oculotrichodysplasia | -| Orphanet:2722 | Odonto-onycho dysplasia-alopecia syndrome | -| Orphanet:2721 | Odonto-onycho-dermal dysplasia | -| Orphanet:69082 | Odonto-tricho-ungual-digito-palmar syndrome | -| Orphanet:166272 | Odontochondrodysplasia | -| Orphanet:247685 | Odontohypophosphatasia | -| Orphanet:77295 | Odontoleukodystrophy | -| Orphanet:2724 | Odontomatosis-aortae esophagus stenosis syndrome | -| Orphanet:1811 | Odontomicronychial dysplasia | -| Orphanet:2723 | Odontotrichomelic syndrome | -| Orphanet:276432 | Ogden syndrome | -| Orphanet:75382 | Oguchi disease | -| Orphanet:2729 | Okamoto syndrome | -| Orphanet:93293 | Okihiro syndrome | -| Orphanet:261638 | Okihiro syndrome due to 20q13 microdeletion | -| Orphanet:261647 | Okihiro syndrome due to a point mutation | -| Orphanet:85410 | Oligoarticular juvenile idiopathic arthritis | -| Orphanet:251651 | Oligoastrocytic tumor | -| Orphanet:251656 | Oligoastrocytoma | -| Orphanet:75378 | Oligocone trichromacy | -| Orphanet:46484 | Oligodendroglial tumor | -| Orphanet:251627 | Oligodendroglioma | -| Orphanet:99798 | Oligodontia | -| Orphanet:300576 | Oligodontia-cancer predisposition syndrome | -| Orphanet:2260 | Oligomeganephronia | -| Orphanet:79215 | Oligosaccharidosis | -| Orphanet:2920 | Oliver syndrome | -| Orphanet:2732 | Olivopontocerebellar atrophy-deafness syndrome | -| Orphanet:296 | Ollier disease | -| Orphanet:39041 | Omenn syndrome | -| Orphanet:2733 | Omodysplasia | -| Orphanet:660 | Omphalocele | -| Orphanet:3164 | Omphalocele syndrome, Shprintzen-Goldberg type | -| Orphanet:496693 | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome | -| Orphanet:490 | Omphalomesenteric cyst | -| Orphanet:319266 | Omsk hemorrhagic fever | -| Orphanet:2737 | Onchocerciasis | -| Orphanet:352540 | Oncogenic osteomalacia | -| Orphanet:300504 | Onychocytic matricoma | -| Orphanet:300512 | Onychomatricoma | -| Orphanet:268363 | Open iniencephaly | -| Orphanet:268369 | Open spinal dysraphism | -| Orphanet:93969 | Open spinal dysraphism with a myelomeningocele | -| Orphanet:645270 | Open spinal dysraphism with a posterior meningocele | -| Orphanet:2741 | Ophthalmomandibulomelic dysplasia | -| Orphanet:2743 | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | -| Orphanet:2745 | Opitz GBBB syndrome | -| Orphanet:2746 | Opsismodysplasia | -| Orphanet:1183 | Opsoclonus-myoclonus syndrome | -| Orphanet:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | -| Orphanet:401777 | Optic atrophy-intellectual disability syndrome | -| Orphanet:519404 | Optic disc pit | -| Orphanet:2086 | Optic pathway glioma | -| Orphanet:357154 | Oral submucous fibrosis | -| Orphanet:508501 | Oral-facial-digital syndrome with short stature and brachymesophalangy | -| Orphanet:52994 | Orbital leiomyoma | -| Orphanet:289899 | Organic aciduria | -| Orphanet:166421 | Orgasm-induced seizures | -| Orphanet:664 | Ornithine transcarbamylase deficiency | -| Orphanet:139039 | Orofacial clefting syndrome | -| Orphanet:140997 | Orofaciodigital syndrome | -| Orphanet:2750 | Orofaciodigital syndrome type 1 | -| Orphanet:2756 | Orofaciodigital syndrome type 10 | -| Orphanet:141000 | Orofaciodigital syndrome type 11 | -| Orphanet:141327 | Orofaciodigital syndrome type 12 | -| Orphanet:141330 | Orofaciodigital syndrome type 13 | -| Orphanet:434179 | Orofaciodigital syndrome type 14 | -| Orphanet:2751 | Orofaciodigital syndrome type 2 | -| Orphanet:2752 | Orofaciodigital syndrome type 3 | -| Orphanet:2753 | Orofaciodigital syndrome type 4 | -| Orphanet:2919 | Orofaciodigital syndrome type 5 | -| Orphanet:2754 | Orofaciodigital syndrome type 6 | -| Orphanet:2755 | Orofaciodigital syndrome type 8 | -| Orphanet:141007 | Orofaciodigital syndrome type 9 | -| Orphanet:93958 | Oromandibular dystonia | -| Orphanet:156215 | Oromandibular-limb anomalies syndrome | -| Orphanet:2749 | Oromandibular-limb hypogenesis syndrome | -| Orphanet:64692 | Oroya fever | -| Orphanet:97335 | Osgood-Schlatter disease | -| Orphanet:73230 | Ossification anomalies-psychomotor developmental delay syndrome | -| Orphanet:58040 | Osteoblastoma | -| Orphanet:2764 | Osteochondritis dissecans | -| Orphanet:2653 | Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome | -| Orphanet:399319 | Osteochondrosis | -| Orphanet:399391 | Osteochondrosis of genetic origin | -| Orphanet:564003 | Osteochondrosis of the metatarsal bone | -| Orphanet:563991 | Osteochondrosis of the tarsal bone | -| Orphanet:2763 | Osteocraniostenosis | -| Orphanet:488265 | Osteofibrous dysplasia | -| Orphanet:666 | Osteogenesis imperfecta | -| Orphanet:216796 | Osteogenesis imperfecta type 1 | -| Orphanet:216804 | Osteogenesis imperfecta type 2 | -| Orphanet:216812 | Osteogenesis imperfecta type 3 | -| Orphanet:216820 | Osteogenesis imperfecta type 4 | -| Orphanet:216828 | Osteogenesis imperfecta type 5 | -| Orphanet:2773 | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome | -| Orphanet:2645 | Osteoglosphonic dysplasia | -| Orphanet:2777 | Osteomesopyknosis | -| Orphanet:399158 | Osteonecrosis | -| Orphanet:399380 | Osteonecrosis of genetic origin | -| Orphanet:399293 | Osteonecrosis of the jaw | -| Orphanet:2780 | Osteopathia striata-cranial sclerosis syndrome | -| Orphanet:2779 | Osteopathia striata-pigmentary dermopathy-white forelock syndrome | -| Orphanet:2324 | Osteopenia-intellectual disability-sparse hair syndrome | -| Orphanet:2785 | Osteopetrosis with renal tubular acidosis | -| Orphanet:178389 | Osteopetrosis-hypogammaglobulinemia syndrome | -| Orphanet:2787 | Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome | -| Orphanet:2786 | Osteoporosis-oculocutaneous hypopigmentation syndrome | -| Orphanet:2788 | Osteoporosis-pseudoglioma syndrome | -| Orphanet:521127 | Osteoradionecrosis of the mandible | -| Orphanet:668 | Osteosarcoma | -| Orphanet:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | -| Orphanet:75325 | Osteosclerosis-ichthyosis-premature ovarian failure syndrome | -| Orphanet:500548 | Osteosclerotic metaphyseal dysplasia | -| Orphanet:90077 | Other acquired skin disease | -| Orphanet:79381 | Other dermis disorder | -| Orphanet:79359 | Other epidermal disorder | -| Orphanet:477808 | Other genetic dermis disorder | -| Orphanet:79360 | Other genetic epidermal disease | -| Orphanet:331244 | Other immunodeficiency syndrome with predominantly antibody defects | -| Orphanet:331193 | Other immunodeficiency syndromes due to defects in innate immunity | -| Orphanet:91088 | Other metabolic disease | -| Orphanet:225713 | Other metabolic disease with epilepsy | -| Orphanet:79217 | Other metabolic disease with skin involvement | -| Orphanet:181381 | Other rare diabetes mellitus | -| Orphanet:269531 | Other syndrome with a central nervous system malformation as a major feature | -| Orphanet:102010 | Other syndrome with lissencephaly as a major feature | -| Orphanet:2791 | Otodental syndrome | -| Orphanet:2792 | Otofaciocervical syndrome | -| Orphanet:155896 | Otomandibular dysplasia | -| Orphanet:156202 | Otomandibular dysplasia associated with monogenic syndromes | -| Orphanet:2793 | Otoonychoperoneal syndrome | -| Orphanet:364541 | Otopalatodigital syndrome spectrum disorder | -| Orphanet:90650 | Otopalatodigital syndrome type 1 | -| Orphanet:90652 | Otopalatodigital syndrome type 2 | -| Orphanet:1427 | Otospondylomegaepiphyseal dysplasia | -| Orphanet:213500 | Ovarian cancer | -| Orphanet:314473 | Ovarian fibroma | -| Orphanet:314478 | Ovarian fibrothecoma | -| Orphanet:64739 | Ovarian hyperstimulation syndrome | -| Orphanet:99853 | Ovarioleukodystrophy | -| Orphanet:498448 | Overgrowth or tall stature syndrome with skeletal involvement | -| Orphanet:93460 | Overgrowth syndrome | -| Orphanet:498488 | Overgrowth syndrome with 2q37 translocation | -| Orphanet:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | -| Orphanet:498485 | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome | -| Orphanet:139024 | Overgrowth/obesity syndrome | -| Orphanet:3203 | Overhydrated hereditary stomatocytosis | -| Orphanet:206572 | Overlap myositis | -| Orphanet:251312 | Overlapping connective tissue disease | -| Orphanet:31 | Oxoglutaric aciduria | -| Orphanet:991 | PAGOD syndrome | -| Orphanet:633099 | PAICS deficiency | -| Orphanet:66624 | PANDAS | -| Orphanet:69126 | PAPA syndrome | -| Orphanet:641380 | PAPASH syndrome | -| Orphanet:2825 | PARC syndrome | -| Orphanet:289478 | PASH syndrome | -| Orphanet:641385 | PASS syndrome | -| Orphanet:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | -| Orphanet:439822 | PDE4D haploinsufficiency syndrome | -| Orphanet:2836 | PEHO syndrome | -| Orphanet:99807 | PEHO-like syndrome | -| Orphanet:313936 | PENS syndrome | -| Orphanet:42642 | PFAPA syndrome | -| Orphanet:319646 | PGM1-CDG | -| Orphanet:443811 | PGM3-CDG | -| Orphanet:42775 | PHACE syndrome | -| Orphanet:2876 | PHAVER syndrome | -| Orphanet:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | -| Orphanet:568062 | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | -| Orphanet:530313 | PIK3CA-related overgrowth syndrome | -| Orphanet:329303 | PLA2G6-associated neurodegeneration | -| Orphanet:521426 | PLAA-associated neurodevelopmental disorder | -| Orphanet:300359 | PLCG2-associated antibody deficiency and immune dysregulation | -| Orphanet:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | -| Orphanet:537072 | PLG-related hereditary angioedema with normal C1Inh | -| Orphanet:280356 | PLIN1-related familial partial lipodystrophy | -| Orphanet:79318 | PMM2-CDG | -| Orphanet:476394 | PMP2-related Charcot-Marie-Tooth disease type 1 | -| Orphanet:477817 | PMP22-RAI1 contiguous gene duplication syndrome | -| Orphanet:2905 | POEMS syndrome | -| Orphanet:480682 | POGLUT1-related limb-girdle muscular dystrophy R21 | -| Orphanet:206564 | POMGNT1-related limb-girdle muscular dystrophy R15 | -| Orphanet:565899 | POMGNT2-related limb-girdle muscular dystrophy R24 | -| Orphanet:86812 | POMT1-related limb-girdle muscular dystrophy R11 | -| Orphanet:206559 | POMT2-related limb-girdle muscular dystrophy R14 | -| Orphanet:79083 | PPARG-related familial partial lipodystrophy | -| Orphanet:97278 | PPoma | -| Orphanet:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | -| Orphanet:544469 | PRUNE1-related neurological syndrome | -| Orphanet:306498 | PTEN hamartoma tumor syndrome | -| Orphanet:589515 | PUM1-associated developmental disability-ataxia-seizure syndrome | -| Orphanet:642747 | PUM1-related cerebellar ataxia | -| Orphanet:438213 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | -| Orphanet:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | -| Orphanet:293633 | PYCR1-related De Barsy syndrome | -| Orphanet:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | -| Orphanet:2796 | Pachydermoperiostosis | -| Orphanet:2798 | Pachygyria-intellectual disability-epilepsy syndrome | -| Orphanet:2309 | Pachyonychia congenita | -| Orphanet:180275 | Paget disease of the nipple | -| Orphanet:1993 | Pai syndrome | -| Orphanet:617440 | Painful legs and moving toes syndrome | -| Orphanet:300501 | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome | -| Orphanet:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | -| Orphanet:672 | Pallister-Hall syndrome | -| Orphanet:140966 | Palmoplantar keratoderma, Nagashima type | -| Orphanet:85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | -| Orphanet:2202 | Palmoplantar keratoderma-deafness syndrome | -| Orphanet:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | -| Orphanet:538574 | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | -| Orphanet:2201 | Palmoplantar keratoderma-spastic paralysis syndrome | -| Orphanet:556955 | Pancreatic agenesis-holoprosencephaly syndrome | -| Orphanet:309108 | Pancreatic colipase deficiency | -| Orphanet:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | -| Orphanet:199337 | Pancreatic insufficiency-anemia-hyperostosis syndrome | -| Orphanet:309031 | Pancreatic triacylglycerol lipase deficiency | -| Orphanet:677 | Pancreatoblastoma | -| Orphanet:317473 | Pancytopenia due to IKZF1 mutations | -| Orphanet:401764 | Pancytopenia-developmental delay syndrome | -| Orphanet:95513 | Panhypophysitis | -| Orphanet:97336 | Panner disease | -| Orphanet:90159 | Panniculitis-induced localized lipodystrophy | -| Orphanet:157850 | Pantothenate kinase-associated neurodegeneration | -| Orphanet:280898 | Panuveitis | -| Orphanet:251962 | Papillary glioneuronal tumor | -| Orphanet:319298 | Papillary renal cell carcinoma | -| Orphanet:251915 | Papillary tumor of the pineal region | -| Orphanet:2807 | Papilloma of choroid plexus | -| Orphanet:678 | Papillon-Lefèvre syndrome | -| Orphanet:228264 | Papular elastorrhexis | -| Orphanet:90395 | Papular mucinosis of infancy | -| Orphanet:158008 | Papular xanthoma | -| Orphanet:464458 | Paracetamol poisoning | -| Orphanet:99056 | Parachute tricuspid valve | -| Orphanet:73260 | Paracoccidioidomycosis | -| Orphanet:156224 | Paralytic facial malformation | -| Orphanet:155867 | Paramedian facial cleft | -| Orphanet:141242 | Paramedian nasal cleft | -| Orphanet:684 | Paramyotonia congenita of Von Eulenburg | -| Orphanet:2812 | Parana hard skin syndrome | -| Orphanet:623626 | Paraneoplastic cerebellar degeneration | -| Orphanet:624190 | Paraneoplastic isolated brainstem encephalitis | -| Orphanet:36388 | Paraneoplastic neurologic syndrome | -| Orphanet:63455 | Paraneoplastic pemphigus | -| Orphanet:208999 | Paraneoplastic sensory ganglionopathy | -| Orphanet:279928 | Paraneoplastic uveitis | -| Orphanet:231445 | Paraparetic variant of Guillain-Barré syndrome | -| Orphanet:2824 | Paraplegia-intellectual disability-hyperkeratosis syndrome | -| Orphanet:31827 | Paraquat poisoning | -| Orphanet:206997 | Parasitic myositis | -| Orphanet:2646 | Parastremmatic dwarfism | -| Orphanet:363478 | Paratesticular adenocarcinoma | -| Orphanet:143 | Parathyroid carcinoma | -| Orphanet:443227 | Paratyphoid fever | -| Orphanet:567983 | Parenteral nutrition-associated cholestasis | -| Orphanet:268826 | Parietal encephalocele | -| Orphanet:251290 | Parietal foramina with clavicular hypoplasia | -| Orphanet:851 | Paris-Trousseau thrombocytopenia | -| Orphanet:90307 | Parkes Weber syndrome | -| Orphanet:90020 | Parkinson-dementia complex of Guam | -| Orphanet:171695 | Parkinsonian-pyramidal syndrome | -| Orphanet:611237 | Parkinsonism with polyneuropathy | -| Orphanet:90035 | Paroxysmal cold hemoglobinuria | -| Orphanet:1431 | Paroxysmal dyskinesia | -| Orphanet:200037 | Paroxysmal dystonia | -| Orphanet:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | -| Orphanet:98811 | Paroxysmal exertion-induced dyskinesia | -| Orphanet:46348 | Paroxysmal extreme pain disorder | -| Orphanet:157835 | Paroxysmal hemicrania | -| Orphanet:98809 | Paroxysmal kinesigenic dyskinesia | -| Orphanet:447 | Paroxysmal nocturnal hemoglobinuria | -| Orphanet:98810 | Paroxysmal non-kinesigenic dyskinesia | -| Orphanet:90797 | Partial androgen insensitivity syndrome | -| Orphanet:1330 | Partial atrioventricular septal defect | -| Orphanet:576232 | Partial atrioventricular septal defect with ventricular hypoplasia | -| Orphanet:576235 | Partial atrioventricular septal defect without ventricular hypoplasia | -| Orphanet:98142 | Partial autosomal deletion | -| Orphanet:98132 | Partial autosomal duplication/triplication | -| Orphanet:1646 | Partial chromosome Y deletion | -| Orphanet:401959 | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | -| Orphanet:98950 | Partial cryptophthalmia | -| Orphanet:261766 | Partial deletion of chromosome 1 | -| Orphanet:261811 | Partial deletion of chromosome 10 | -| Orphanet:261816 | Partial deletion of chromosome 11 | -| Orphanet:282124 | Partial deletion of chromosome 12 | -| Orphanet:261826 | Partial deletion of chromosome 16 | -| Orphanet:261831 | Partial deletion of chromosome 17 | -| Orphanet:261836 | Partial deletion of chromosome 18 | -| Orphanet:261841 | Partial deletion of chromosome 19 | -| Orphanet:261771 | Partial deletion of chromosome 2 | -| Orphanet:261846 | Partial deletion of chromosome 20 | -| Orphanet:261776 | Partial deletion of chromosome 3 | -| Orphanet:261781 | Partial deletion of chromosome 4 | -| Orphanet:261786 | Partial deletion of chromosome 5 | -| Orphanet:261791 | Partial deletion of chromosome 6 | -| Orphanet:261796 | Partial deletion of chromosome 7 | -| Orphanet:261801 | Partial deletion of chromosome 8 | -| Orphanet:261806 | Partial deletion of chromosome 9 | -| Orphanet:263726 | Partial deletion of chromosome X | -| Orphanet:262001 | Partial deletion of the long arm of chromosome 1 | -| Orphanet:262083 | Partial deletion of the long arm of chromosome 10 | -| Orphanet:262092 | Partial deletion of the long arm of chromosome 11 | -| Orphanet:261821 | Partial deletion of the long arm of chromosome 12 | -| Orphanet:262101 | Partial deletion of the long arm of chromosome 13 | -| Orphanet:262110 | Partial deletion of the long arm of chromosome 14 | -| Orphanet:262119 | Partial deletion of the long arm of chromosome 15 | -| Orphanet:262128 | Partial deletion of the long arm of chromosome 16 | -| Orphanet:262137 | Partial deletion of the long arm of chromosome 17 | -| Orphanet:262146 | Partial deletion of the long arm of chromosome 18 | -| Orphanet:262155 | Partial deletion of the long arm of chromosome 19 | -| Orphanet:262010 | Partial deletion of the long arm of chromosome 2 | -| Orphanet:262164 | Partial deletion of the long arm of chromosome 20 | -| Orphanet:262173 | Partial deletion of the long arm of chromosome 21 | -| Orphanet:262182 | Partial deletion of the long arm of chromosome 22 | -| Orphanet:262019 | Partial deletion of the long arm of chromosome 3 | -| Orphanet:262029 | Partial deletion of the long arm of chromosome 4 | -| Orphanet:262038 | Partial deletion of the long arm of chromosome 5 | -| Orphanet:262047 | Partial deletion of the long arm of chromosome 6 | -| Orphanet:262056 | Partial deletion of the long arm of chromosome 7 | -| Orphanet:262065 | Partial deletion of the long arm of chromosome 8 | -| Orphanet:262074 | Partial deletion of the long arm of chromosome 9 | -| Orphanet:263756 | Partial deletion of the long arm of chromosome X | -| Orphanet:261857 | Partial deletion of the short arm of chromosome 1 | -| Orphanet:261938 | Partial deletion of the short arm of chromosome 10 | -| Orphanet:261947 | Partial deletion of the short arm of chromosome 11 | -| Orphanet:316244 | Partial deletion of the short arm of chromosome 12 | -| Orphanet:261956 | Partial deletion of the short arm of chromosome 16 | -| Orphanet:261965 | Partial deletion of the short arm of chromosome 17 | -| Orphanet:261974 | Partial deletion of the short arm of chromosome 18 | -| Orphanet:261983 | Partial deletion of the short arm of chromosome 19 | -| Orphanet:261866 | Partial deletion of the short arm of chromosome 2 | -| Orphanet:261992 | Partial deletion of the short arm of chromosome 20 | -| Orphanet:261875 | Partial deletion of the short arm of chromosome 3 | -| Orphanet:261884 | Partial deletion of the short arm of chromosome 4 | -| Orphanet:261893 | Partial deletion of the short arm of chromosome 5 | -| Orphanet:261902 | Partial deletion of the short arm of chromosome 6 | -| Orphanet:261911 | Partial deletion of the short arm of chromosome 7 | -| Orphanet:261920 | Partial deletion of the short arm of chromosome 8 | -| Orphanet:261929 | Partial deletion of the short arm of chromosome 9 | -| Orphanet:263731 | Partial deletion of the short arm of the chromosome X | -| Orphanet:262191 | Partial duplication of chromosome 1 | -| Orphanet:262648 | Partial duplication of chromosome 10 | -| Orphanet:262653 | Partial duplication of chromosome 11 | -| Orphanet:262672 | Partial duplication of chromosome 16 | -| Orphanet:262677 | Partial duplication of chromosome 17 | -| Orphanet:262687 | Partial duplication of chromosome 19 | -| Orphanet:262196 | Partial duplication of chromosome 2 | -| Orphanet:262692 | Partial duplication of chromosome 20 | -| Orphanet:262201 | Partial duplication of chromosome 3 | -| Orphanet:262206 | Partial duplication of chromosome 4 | -| Orphanet:262628 | Partial duplication of chromosome 6 | -| Orphanet:262633 | Partial duplication of chromosome 7 | -| Orphanet:262638 | Partial duplication of chromosome 8 | -| Orphanet:263768 | Partial duplication of chromosome X | -| Orphanet:262833 | Partial duplication of the long arm of chromosome 1 | -| Orphanet:262914 | Partial duplication of the long arm of chromosome 10 | -| Orphanet:262923 | Partial duplication of the long arm of chromosome 11 | -| Orphanet:262932 | Partial duplication of the long arm of chromosome 13 | -| Orphanet:262941 | Partial duplication of the long arm of chromosome 14 | -| Orphanet:262950 | Partial duplication of the long arm of chromosome 15 | -| Orphanet:262959 | Partial duplication of the long arm of chromosome 16 | -| Orphanet:262968 | Partial duplication of the long arm of chromosome 17 | -| Orphanet:262977 | Partial duplication of the long arm of chromosome 18 | -| Orphanet:262986 | Partial duplication of the long arm of chromosome 19 | -| Orphanet:262842 | Partial duplication of the long arm of chromosome 2 | -| Orphanet:262995 | Partial duplication of the long arm of chromosome 20 | -| Orphanet:263004 | Partial duplication of the long arm of chromosome 22 | -| Orphanet:262851 | Partial duplication of the long arm of chromosome 3 | -| Orphanet:262860 | Partial duplication of the long arm of chromosome 4 | -| Orphanet:262869 | Partial duplication of the long arm of chromosome 5 | -| Orphanet:262878 | Partial duplication of the long arm of chromosome 6 | -| Orphanet:262887 | Partial duplication of the long arm of chromosome 7 | -| Orphanet:262896 | Partial duplication of the long arm of chromosome 8 | -| Orphanet:262905 | Partial duplication of the long arm of chromosome 9 | -| Orphanet:263783 | Partial duplication of the long arm of chromosome X | -| Orphanet:264431 | Partial duplication of the short arm of chromosome 1 | -| Orphanet:262776 | Partial duplication of the short arm of chromosome 10 | -| Orphanet:262785 | Partial duplication of the short arm of chromosome 11 | -| Orphanet:262794 | Partial duplication of the short arm of chromosome 16 | -| Orphanet:262803 | Partial duplication of the short arm of chromosome 17 | -| Orphanet:447985 | Partial duplication of the short arm of chromosome 19 | -| Orphanet:262698 | Partial duplication of the short arm of chromosome 2 | -| Orphanet:262707 | Partial duplication of the short arm of chromosome 3 | -| Orphanet:262716 | Partial duplication of the short arm of chromosome 4 | -| Orphanet:262740 | Partial duplication of the short arm of chromosome 6 | -| Orphanet:262749 | Partial duplication of the short arm of chromosome 7 | -| Orphanet:262758 | Partial duplication of the short arm of chromosome 8 | -| Orphanet:263775 | Partial duplication of the short arm of chromosome X | -| Orphanet:262682 | Partial duplication/triplication of chromosome 18 | -| Orphanet:262211 | Partial duplication/triplication of chromosome 5 | -| Orphanet:262643 | Partial duplication/triplication of chromosome 9 | -| Orphanet:262658 | Partial duplication/triplication of the short arm of chromosome 12 | -| Orphanet:262812 | Partial duplication/triplication of the short arm of chromosome 18 | -| Orphanet:262725 | Partial duplication/triplication of the short arm of chromosome 5 | -| Orphanet:262767 | Partial duplication/triplication of the short arm of chromosome 9 | -| Orphanet:254693 | Partial hydatidiform mole | -| Orphanet:2805 | Partial pancreatic agenesis | -| Orphanet:180129 | Partial septate uterus | -| Orphanet:458785 | Partially involuting congenital hemangioma | -| Orphanet:94083 | Partington syndrome | -| Orphanet:86789 | Patella aplasia/hypoplasia | -| Orphanet:93455 | Patellar dysostosis | -| Orphanet:228190 | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | -| Orphanet:431341 | Patent urachus | -| Orphanet:261304 | Paternal 20q13.2q13.3 microdeletion syndrome | -| Orphanet:98154 | Paternal uniparental disomy | -| Orphanet:251004 | Paternal uniparental disomy of chromosome 1 | -| Orphanet:99324 | Paternal uniparental disomy of chromosome 13 | -| Orphanet:96194 | Paternal uniparental disomy of chromosome 20 | -| Orphanet:96195 | Paternal uniparental disomy of chromosome 21 | -| Orphanet:96190 | Paternal uniparental disomy of chromosome 5 | -| Orphanet:96191 | Paternal uniparental disomy of chromosome 6 | -| Orphanet:96192 | Paternal uniparental disomy of chromosome 7 | -| Orphanet:261524 | Paternal uniparental disomy of chromosome X | -| Orphanet:63454 | Pattern dystrophy | -| Orphanet:2439 | Patterson-Stevenson-Fontaine syndrome | -| Orphanet:93126 | Pauci-immune glomerulonephritis | -| Orphanet:97563 | Pauci-immune glomerulonephritis with ANCA | -| Orphanet:97564 | Pauci-immune glomerulonephritis without ANCA | -| Orphanet:699 | Pearson syndrome | -| Orphanet:2835 | Pectus excavatum-macrocephaly-dysplastic nails syndrome | -| Orphanet:439175 | Pediatric arterial ischemic stroke | -| Orphanet:487809 | Pediatric collagenous gastritis | -| Orphanet:33402 | Pediatric hepatocellular carcinoma | -| Orphanet:477738 | Pediatric multiple sclerosis | -| Orphanet:93552 | Pediatric systemic lupus erythematosus | -| Orphanet:525731 | Pediatric-onset Graves disease | -| Orphanet:359 | Pediatric-onset glaucoma of genetic origin | -| Orphanet:817 | Peeling skin syndrome | -| Orphanet:263548 | Peeling skin syndrome type A | -| Orphanet:263553 | Peeling skin syndrome type B | -| Orphanet:444138 | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome | -| Orphanet:702 | Pelizaeus-Merzbacher disease | -| Orphanet:280229 | Pelizaeus-Merzbacher disease in female carriers | -| Orphanet:280219 | Pelizaeus-Merzbacher disease, classic form | -| Orphanet:280210 | Pelizaeus-Merzbacher disease, connatal form | -| Orphanet:280224 | Pelizaeus-Merzbacher disease, transitional form | -| Orphanet:280270 | Pelizaeus-Merzbacher-like disease | -| Orphanet:280293 | Pelizaeus-Merzbacher-like disease due to AIMP1 mutation | -| Orphanet:280282 | Pelizaeus-Merzbacher-like disease due to GJC2 mutation | -| Orphanet:280288 | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation | -| Orphanet:97352 | Pellagra | -| Orphanet:137672 | Pellucid marginal degeneration | -| Orphanet:2840 | Pelvic dysplasia-arthrogryposis of lower limbs syndrome | -| Orphanet:2839 | Pelvis-shoulder dysplasia | -| Orphanet:93333 | Pelviscapular dysplasia | -| Orphanet:63275 | Pemphigoid gestationis | -| Orphanet:79480 | Pemphigus erythematosus | -| Orphanet:79481 | Pemphigus foliaceus | -| Orphanet:79479 | Pemphigus vegetans | -| Orphanet:704 | Pemphigus vulgaris | -| Orphanet:705 | Pendred syndrome | -| Orphanet:49 | Penile agenesis | -| Orphanet:2842 | Penoscrotal transposition | -| Orphanet:1335 | Pentalogy of Cantrell | -| Orphanet:11 | Pentasomy X | -| Orphanet:2843 | Pentosuria | -| Orphanet:2847 | Pericardial and diaphragmatic defect | -| Orphanet:247623 | Perinatal lethal hypophosphatasia | -| Orphanet:65250 | Perineural cyst | -| Orphanet:85102 | Perineurioma | -| Orphanet:101995 | Periodic fever syndrome | -| Orphanet:324939 | Periodic fever syndrome of childhood | -| Orphanet:436166 | Periodic fever-infantile enterocolitis-autoinflammatory syndrome | -| Orphanet:206976 | Periodic paralysis | -| Orphanet:397750 | Periodic paralysis with later-onset distal motor neuropathy | -| Orphanet:397755 | Periodic paralysis with transient compartment-like syndrome | -| Orphanet:75392 | Periodontal Ehlers-Danlos syndrome | -| Orphanet:139426 | Perioral myoclonia with absences | -| Orphanet:519400 | Peripapillary staphyloma | -| Orphanet:563 | Peripartum cardiomyopathy | -| Orphanet:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | -| Orphanet:1795 | Peripheral dysostosis | -| Orphanet:2400 | Peripheral motor neuropathy-dysautonomia syndrome | -| Orphanet:209010 | Peripheral neuropathy associated with monoclonal gammopathy | -| Orphanet:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | -| Orphanet:370348 | Peripheral primitive neuroectodermal tumor | -| Orphanet:99084 | Peripheral pulmonary stenosis | -| Orphanet:168816 | Peritoneal cystic mesothelioma | -| Orphanet:595133 | Perivascular epithelioid cell neoplasm | -| Orphanet:98892 | Periventricular nodular heterotopia | -| Orphanet:93424 | Perlecan-related bone disorder | -| Orphanet:2849 | Perlman syndrome | -| Orphanet:226292 | Permanent congenital hypothyroidism | -| Orphanet:65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | -| Orphanet:2971 | Peroxisomal acyl-CoA oxidase deficiency | -| Orphanet:68373 | Peroxisomal disease | -| Orphanet:225686 | Peroxisomal disease with epilepsy | -| Orphanet:79189 | Peroxisome biogenesis disorder | -| Orphanet:2855 | Perrault syndrome | -| Orphanet:642945 | Perrault syndrome type 1 | -| Orphanet:642976 | Perrault syndrome type 2 | -| Orphanet:178509 | Perry syndrome | -| Orphanet:2856 | Persistent Müllerian duct syndrome | -| Orphanet:391711 | Persistent combined dystonia | -| Orphanet:99120 | Persistent eustachian valve | -| Orphanet:99076 | Persistent fifth aortic arch | -| Orphanet:91495 | Persistent hyperplastic primary vitreous | -| Orphanet:398147 | Persistent idiopathic facial pain | -| Orphanet:99109 | Persistent left superior vena cava connecting through coronary sinus to left-sided atrium | -| Orphanet:99111 | Persistent left superior vena cava connecting to the roof of left-sided atrium | -| Orphanet:97341 | Persistent placoid maculopathy | -| Orphanet:300324 | Persistent polyclonal B-cell lymphocytosis | -| Orphanet:708 | Peters anomaly | -| Orphanet:709 | Peters plus syndrome | -| Orphanet:2869 | Peutz-Jeghers syndrome | -| Orphanet:710 | Pfeiffer syndrome | -| Orphanet:93258 | Pfeiffer syndrome type 1 | -| Orphanet:93259 | Pfeiffer syndrome type 2 | -| Orphanet:93260 | Pfeiffer syndrome type 3 | -| Orphanet:2871 | Pfeiffer-Palm-Teller syndrome | -| Orphanet:209959 | Phacoanaphylactic uveitis | -| Orphanet:79483 | Phakomatosis cesioflammea | -| Orphanet:79484 | Phakomatosis cesiomarmorata | -| Orphanet:2874 | Phakomatosis pigmentokeratotica | -| Orphanet:2875 | Phakomatosis pigmentovascularis | -| Orphanet:79485 | Phakomatosis spilorosea | -| Orphanet:352636 | Phalangeal microgeodic syndrome | -| Orphanet:231426 | Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome | -| Orphanet:1919 | Phenobarbital embryopathy | -| Orphanet:716 | Phenylketonuria | -| Orphanet:573163 | Pheochromocytoma-paraganglioma | -| Orphanet:2879 | Phocomelia, Schinzel type | -| Orphanet:2878 | Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome | -| Orphanet:2880 | Phosphoenolpyruvate carboxykinase deficiency | -| Orphanet:3222 | Phosphoribosylpyrophosphate synthetase superactivity | -| Orphanet:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | -| Orphanet:166409 | Photosensitive epilepsy | -| Orphanet:180261 | Phyllodes tumor of the breast | -| Orphanet:498228 | Phyllodes tumor of the prostate | -| Orphanet:2885 | Piebald trait-neurologic defects syndrome | -| Orphanet:2884 | Piebaldism | -| Orphanet:487825 | Pierpont syndrome | -| Orphanet:138047 | Pierre Robin syndrome associated with a chromosomal anomaly | -| Orphanet:138055 | Pierre Robin syndrome associated with bone disease | -| Orphanet:138050 | Pierre Robin syndrome associated with branchial archs anomalies | -| Orphanet:138041 | Pierre Robin syndrome associated with collagen disease | -| Orphanet:2888 | Pierre Robin syndrome-faciodigital anomaly syndrome | -| Orphanet:2670 | Pierson syndrome | -| Orphanet:99908 | Pigeon-breeder lung disease | -| Orphanet:79374 | Pigmentation anomaly of the skin | -| Orphanet:447961 | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome | -| Orphanet:251295 | Pigmented paravenous retinochoroidal atrophy | -| Orphanet:720 | Pili bifurcati | -| Orphanet:79492 | Pili gemini | -| Orphanet:2889 | Pili torti | -| Orphanet:2891 | Pili torti-developmental delay-neurological abnormalities syndrome | -| Orphanet:2890 | Pili torti-onychodysplasia syndrome | -| Orphanet:251612 | Pilocytic astrocytoma | -| Orphanet:2892 | Pilodental dysplasia-refractive errors syndrome | -| Orphanet:499182 | Pilomatrix carcinoma | -| Orphanet:91414 | Pilomatrixoma | -| Orphanet:251615 | Pilomyxoid astrocytoma | -| Orphanet:251919 | Pineal parenchymal tumor of intermediate differenciation | -| Orphanet:251905 | Pineal tumor of neuroepithelial tissue | -| Orphanet:251909 | Pineoblastoma | -| Orphanet:251912 | Pineocytoma | -| Orphanet:156243 | Pinnae and external auditory canal anomaly | -| Orphanet:155838 | Pinnae fistula or cyst | -| Orphanet:2896 | Pitt-Hopkins syndrome | -| Orphanet:251623 | Pituicytoma | -| Orphanet:99408 | Pituitary adenoma | -| Orphanet:95613 | Pituitary apoplexy | -| Orphanet:300385 | Pituitary carcinoma | -| Orphanet:101957 | Pituitary deficiency | -| Orphanet:91350 | Pituitary deficiency due to Rathke cleft cysts | -| Orphanet:91354 | Pituitary deficiency due to empty sella turcica syndrome | -| Orphanet:91351 | Pituitary dermoid and epidermoid cysts | -| Orphanet:99725 | Pituitary gigantism | -| Orphanet:95505 | Pituitary hormone deficiency of meningeal origin | -| Orphanet:95503 | Pituitary hormone deficiency of tumoral origin | -| Orphanet:95611 | Pituitary hormone deficiency of vascular origin | -| Orphanet:95617 | Pituitary hormone deficiency secondary to a granulomatous disease | -| Orphanet:95618 | Pituitary hormone deficiency secondary to storage disease | -| Orphanet:95496 | Pituitary stalk interruption syndrome | -| Orphanet:304055 | Pituitary tumor | -| Orphanet:2897 | Pityriasis rubra pilaris | -| Orphanet:439167 | Placental insufficiency | -| Orphanet:99928 | Placental site trophoblastic tumor | -| Orphanet:707 | Plague | -| Orphanet:158769 | Plaque-form urticaria pigmentosa | -| Orphanet:454714 | Plasma cell leukemia | -| Orphanet:289666 | Plasmablastic lymphoma | -| Orphanet:86855 | Plasmacytoma | -| Orphanet:439881 | Plastic bronchitis | -| Orphanet:85166 | Platyspondylic dysplasia, Torrance type | -| Orphanet:254361 | Plectin-related limb-girdle muscular dystrophy R17 | -| Orphanet:99969 | Pleomorphic liposarcoma | -| Orphanet:293199 | Pleomorphic rhabdomyosarcoma | -| Orphanet:454821 | Pleomorphic salivary gland adenoma | -| Orphanet:251607 | Pleomorphic xanthoastrocytoma | -| Orphanet:449266 | Pleural empyema | -| Orphanet:50251 | Pleural mesothelioma | -| Orphanet:99131 | Pleuro-pericardial cyst | -| Orphanet:64742 | Pleuropulmonary blastoma | -| Orphanet:99933 | Pleuropulmonary blastoma type 1 | -| Orphanet:99934 | Pleuropulmonary blastoma type 2 | -| Orphanet:99935 | Pleuropulmonary blastoma type 3 | -| Orphanet:54028 | Plummer-Vinson syndrome | -| Orphanet:55655 | Pneumococcal meningitis | -| Orphanet:723 | Pneumocystosis | -| Orphanet:90066 | Pneumonia caused by Pseudomonas aeruginosa infection | -| Orphanet:221046 | Poikiloderma with neutropenia | -| Orphanet:2911 | Poland syndrome | -| Orphanet:2912 | Poliomyelitis | -| Orphanet:767 | Polyarteritis nodosa | -| Orphanet:450322 | Polyclonal hyperviscosity syndrome | -| Orphanet:98427 | Polycythemia | -| Orphanet:729 | Polycythemia vera | -| Orphanet:93339 | Polydactyly of a biphalangeal thumb and/or hallux | -| Orphanet:93336 | Polydactyly of a triphalangeal thumb | -| Orphanet:93337 | Polydactyly of an index finger | -| Orphanet:2917 | Polydactyly-myopia syndrome | -| Orphanet:180229 | Polyembryoma | -| Orphanet:453533 | Polyendocrine-polyneuropathy syndrome | -| Orphanet:101956 | Polyendocrinopathy | -| Orphanet:397937 | Polyglucosan body myopathy type 1 | -| Orphanet:456369 | Polyglucosan body myopathy type 2 | -| Orphanet:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | -| Orphanet:183422 | Polymalformative genetic syndrome with increased risk of developing cancer | -| Orphanet:447877 | Polymerase proofreading-related adenomatous polyposis | -| Orphanet:35981 | Polymicrogyria | -| Orphanet:300573 | Polymicrogyria due to TUBB2B mutation | -| Orphanet:250972 | Polymicrogyria with optic nerve hypoplasia | -| Orphanet:93569 | Polymyalgia rheumatica | -| Orphanet:732 | Polymyositis | -| Orphanet:639 | Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG | -| Orphanet:171848 | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | -| Orphanet:2928 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome | -| Orphanet:93276 | Polyostotic fibrous dysplasia | -| Orphanet:96321 | Polyploidy | -| Orphanet:141091 | Polyrrhinia | -| Orphanet:263723 | Polysomy of X chromosome | -| Orphanet:93338 | Polysyndactyly | -| Orphanet:2934 | Polysyndactyly-cardiac malformation syndrome | -| Orphanet:228410 | Polyvalvular heart disease syndrome | -| Orphanet:99748 | Pontiac fever | -| Orphanet:477749 | Pontine autosomal dominant microangiopathy with leukoencephalopathy | -| Orphanet:269229 | Pontine tegmental cap dysplasia | -| Orphanet:2254 | Pontocerebellar hypoplasia type 1 | -| Orphanet:411493 | Pontocerebellar hypoplasia type 10 | -| Orphanet:611247 | Pontocerebellar hypoplasia type 11 | -| Orphanet:611256 | Pontocerebellar hypoplasia type 12 | -| Orphanet:613267 | Pontocerebellar hypoplasia type 13 | -| Orphanet:613274 | Pontocerebellar hypoplasia type 14 | -| Orphanet:2524 | Pontocerebellar hypoplasia type 2 | -| Orphanet:97249 | Pontocerebellar hypoplasia type 3 | -| Orphanet:166063 | Pontocerebellar hypoplasia type 4 | -| Orphanet:166073 | Pontocerebellar hypoplasia type 6 | -| Orphanet:284339 | Pontocerebellar hypoplasia type 7 | -| Orphanet:324569 | Pontocerebellar hypoplasia type 8 | -| Orphanet:369920 | Pontocerebellar hypoplasia type 9 | -| Orphanet:263339 | Poorly differentiated thymic neuroendocrine carcinoma | -| Orphanet:294963 | Popliteal pterygium syndrome | -| Orphanet:2940 | Porencephaly | -| Orphanet:2941 | Porencephaly-cerebellar hypoplasia-internal malformations syndrome | -| Orphanet:306547 | Porencephaly-microcephaly-bilateral congenital cataract syndrome | -| Orphanet:79358 | Porokeratosis | -| Orphanet:735 | Porokeratosis of Mibelli | -| Orphanet:737 | Porokeratosis plantaris palmaris et disseminata | -| Orphanet:166286 | Porokeratotic eccrine ostial and dermal duct nevus | -| Orphanet:738 | Porphyria | -| Orphanet:101330 | Porphyria cutanea tarda | -| Orphanet:100924 | Porphyria due to ALA dehydratase deficiency | -| Orphanet:79473 | Porphyria variegata | -| Orphanet:2703 | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome | -| Orphanet:596937 | Portosinusoidal vascular disease | -| Orphanet:70568 | Post-transplant lymphoproliferative disease | -| Orphanet:95619 | Post-traumatic pituitary deficiency | -| Orphanet:246 | Postaxial acrofacial dysostosis | -| Orphanet:93334 | Postaxial polydactyly type A | -| Orphanet:93335 | Postaxial polydactyly type B | -| Orphanet:420584 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | -| Orphanet:2916 | Postaxial polydactyly-dental and vertebral anomalies syndrome | -| Orphanet:2730 | Postaxial tetramelic oligodactyly | -| Orphanet:97349 | Postencephalitic parkinsonism | -| Orphanet:98971 | Posterior amorphous corneal dystrophy | -| Orphanet:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | -| Orphanet:98627 | Posterior corneal dystrophy | -| Orphanet:54247 | Posterior cortical atrophy | -| Orphanet:645294 | Posterior extramedullary conus spinal cord lipoma | -| Orphanet:98519 | Posterior fossa malformation | -| Orphanet:2064 | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | -| Orphanet:98973 | Posterior polymorphous corneal dystrophy | -| Orphanet:93110 | Posterior urethral valve | -| Orphanet:280892 | Posterior uveitis | -| Orphanet:572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome | -| Orphanet:306727 | Postinfectious autoimmune disease with chorea | -| Orphanet:624244 | Postinfectious cerebellitis | -| Orphanet:48435 | Postinfectious vasculitis | -| Orphanet:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | -| Orphanet:279947 | Postorgasmic illness syndrome | -| Orphanet:443173 | Postpartum psychosis | -| Orphanet:2942 | Postpoliomyelitis syndrome | -| Orphanet:98913 | Postsynaptic congenital myasthenic syndromes | -| Orphanet:163921 | Posttransplant acute limbic encephalitis | -| Orphanet:443236 | Postural orthostatic tachycardia syndrome due to NET deficiency | -| Orphanet:612 | Potassium-aggravated myotonia | -| Orphanet:52022 | Potocki-Shaffer syndrome | -| Orphanet:217067 | Pouchitis | -| Orphanet:397606 | PrP systemic amyloidosis | -| Orphanet:739 | Prader-Willi syndrome | -| Orphanet:177910 | Prader-Willi syndrome due to imprinting mutation | -| Orphanet:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | -| Orphanet:98793 | Prader-Willi syndrome due to paternal 15q11q13 deletion | -| Orphanet:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | -| Orphanet:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | -| Orphanet:177907 | Prader-Willi syndrome due to translocation | -| Orphanet:398073 | Prader-Willi-like syndrome | -| Orphanet:293462 | Pre-Descemet corneal dystrophy | -| Orphanet:633211 | Preaxial digit brachydactyly-webbed fingers | -| Orphanet:2921 | Preaxial polydactyly-colobomata-intellectual disability syndrome | -| Orphanet:99860 | Precursor B-cell acute lymphoblastic leukemia | -| Orphanet:99861 | Precursor T-cell acute lymphoblastic leukemia | -| Orphanet:240839 | Prediction of 5-fluorouracil toxicity | -| Orphanet:240841 | Prediction of abacavir toxicity | -| Orphanet:240845 | Prediction of allopurinol toxicity | -| Orphanet:240863 | Prediction of cisplatin toxicity | -| Orphanet:240867 | Prediction of codeine toxicity | -| Orphanet:413693 | Prediction of curariform drugs toxicity | -| Orphanet:596744 | Prediction of dolutegravir toxicity | -| Orphanet:240869 | Prediction of efavirenz toxicity | -| Orphanet:240871 | Prediction of flucloxacilline toxicity | -| Orphanet:240885 | Prediction of irinotecan toxicity | -| Orphanet:240887 | Prediction of isoniazid toxicity | -| Orphanet:574637 | Prediction of ivermectin toxicity | -| Orphanet:414750 | Prediction of phenytoin or carbamazepine toxicity | -| Orphanet:240905 | Prediction of raltegravir toxicity | -| Orphanet:413696 | Prediction of statin toxicity | -| Orphanet:574671 | Prediction of toxicity or dose selection of belinostat | -| Orphanet:240921 | Prediction of voriconazole toxicity | -| Orphanet:457088 | Predisposition to invasive fungal disease due to CARD9 deficiency | -| Orphanet:574918 | Predisposition to severe viral infection due to IRF7 deficiency | -| Orphanet:156140 | Predominantly large-vessel vasculitis | -| Orphanet:156143 | Predominantly medium-vessel vasculitis | -| Orphanet:156146 | Predominantly small-vessel vasculitis | -| Orphanet:275555 | Preeclampsia | -| Orphanet:79389 | Premature aging | -| Orphanet:95486 | Premature closure of the arterial duct | -| Orphanet:247638 | Prenatal benign hypophosphatasia | -| Orphanet:486811 | Prenatal-onset spinal muscular atrophy with congenital bone fractures | -| Orphanet:525738 | Prepubertal anorexia nervosa | -| Orphanet:90160 | Pressure-induced localized lipoatrophy | -| Orphanet:98914 | Presynaptic congenital myasthenic syndromes | -| Orphanet:169464 | Primary CD59 deficiency | -| Orphanet:3337 | Primary Fanconi renotubular syndrome | -| Orphanet:289390 | Primary Sjögren syndrome | -| Orphanet:98872 | Primary acquired pure red cell aplasia | -| Orphanet:101958 | Primary adrenal insufficiency | -| Orphanet:874 | Primary adult heart tumor | -| Orphanet:228272 | Primary anetoderma | -| Orphanet:140989 | Primary angiitis of the central nervous system | -| Orphanet:522037 | Primary autoimmune enteropathy | -| Orphanet:399302 | Primary avascular necrosis | -| Orphanet:2285 | Primary basilar invagination | -| Orphanet:186 | Primary biliary cholangitis | -| Orphanet:562639 | Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome | -| Orphanet:645822 | Primary bone and joint tuberculosis | -| Orphanet:364526 | Primary bone dysplasia | -| Orphanet:93446 | Primary bone dysplasia with decreased bone density | -| Orphanet:93447 | Primary bone dysplasia with defective bone mineralization | -| Orphanet:93450 | Primary bone dysplasia with disorganized development of skeletal components | -| Orphanet:93444 | Primary bone dysplasia with increased bone density | -| Orphanet:364536 | Primary bone dysplasia with micromelia | -| Orphanet:93441 | Primary bone dysplasia with multiple joint dislocations | -| Orphanet:364531 | Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments | -| Orphanet:314684 | Primary bone lymphoma | -| Orphanet:46135 | Primary central nervous system lymphoma | -| Orphanet:650087 | Primary central precocious puberty in male | -| Orphanet:244 | Primary ciliary dyskinesia | -| Orphanet:247522 | Primary ciliary dyskinesia-retinitis pigmentosa syndrome | -| Orphanet:477781 | Primary condylar hyperplasia | -| Orphanet:226295 | Primary congenital hypothyroidism | -| Orphanet:95714 | Primary congenital hypothyroidism without thyroid developmental anomaly | -| Orphanet:178522 | Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma | -| Orphanet:178528 | Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma | -| Orphanet:137807 | Primary cutaneous amyloidosis | -| Orphanet:300865 | Primary cutaneous anaplastic large cell lymphoma | -| Orphanet:178544 | Primary cutaneous diffuse large B-cell lymphoma, leg type | -| Orphanet:178540 | Primary cutaneous follicle center lymphoma | -| Orphanet:178533 | Primary cutaneous gamma/delta-positive T-cell lymphoma | -| Orphanet:178536 | Primary cutaneous marginal zone B-cell lymphoma | -| Orphanet:86885 | Primary cutaneous peripheral T-cell lymphoma not otherwise specified | -| Orphanet:451602 | Primary cutaneous plasmacytosis | -| Orphanet:645849 | Primary cutaneous tuberculosis | -| Orphanet:671 | Primary cutis verticis gyrata | -| Orphanet:565641 | Primary desmosis coli | -| Orphanet:98807 | Primary dystonia, DYT13 type | -| Orphanet:370103 | Primary dystonia, DYT17 type | -| Orphanet:99657 | Primary dystonia, DYT2 type | -| Orphanet:306734 | Primary dystonia, DYT21 type | -| Orphanet:464440 | Primary dystonia, DYT27 type | -| Orphanet:98805 | Primary dystonia, DYT4 type | -| Orphanet:98806 | Primary dystonia, DYT6 type | -| Orphanet:156005 | Primary early-onset glaucoma | -| Orphanet:48686 | Primary effusion lymphoma | -| Orphanet:402029 | Primary eosinophilic gastrointestinal disease | -| Orphanet:90026 | Primary erythromelalgia | -| Orphanet:357220 | Primary essential cutis verticis gyrata | -| Orphanet:412206 | Primary failure of tooth eruption | -| Orphanet:90042 | Primary familial polycythemia | -| Orphanet:645874 | Primary genito-urinary tuberculosis | -| Orphanet:100085 | Primary hepatic neuroendocrine carcinoma | -| Orphanet:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | -| Orphanet:314950 | Primary hypereosinophilic syndrome | -| Orphanet:2232 | Primary hypergonadotropic hypogonadism-partial alopecia syndrome | -| Orphanet:416 | Primary hyperoxaluria | -| Orphanet:93598 | Primary hyperoxaluria type 1 | -| Orphanet:93599 | Primary hyperoxaluria type 2 | -| Orphanet:93600 | Primary hyperoxaluria type 3 | -| Orphanet:248095 | Primary hypertrophic osteoarthropathy | -| Orphanet:306516 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis | -| Orphanet:2196 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | -| Orphanet:31043 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | -| Orphanet:30924 | Primary hypomagnesemia with secondary hypocalcemia | -| Orphanet:620363 | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome | -| Orphanet:95506 | Primary hypophysitis | -| Orphanet:101997 | Primary immunodeficiency | -| Orphanet:179006 | Primary immunodeficiency due to a defect in adaptive immunity | -| Orphanet:101988 | Primary immunodeficiency due to a defect in innate immunity | -| Orphanet:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | -| Orphanet:75391 | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | -| Orphanet:431166 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | -| Orphanet:431156 | Primary immunodeficiency with predisposition to severe viral infection | -| Orphanet:90362 | Primary intestinal lymphangiectasia | -| Orphanet:480506 | Primary intrahepatic lithiasis | -| Orphanet:458768 | Primary intralymphatic angioendothelioma | -| Orphanet:279904 | Primary intraocular lymphoma | -| Orphanet:140436 | Primary intraosseous venous malformation | -| Orphanet:137926 | Primary laryngeal lymphangioma | -| Orphanet:35689 | Primary lateral sclerosis | -| Orphanet:90970 | Primary lipodystrophy | -| Orphanet:314709 | Primary localized amyloidosis | -| Orphanet:77240 | Primary lymphedema | -| Orphanet:568044 | Primary lymphedema with systemic or visceral involvement | -| Orphanet:568041 | Primary lymphedema without systemic or visceral involvement | -| Orphanet:319667 | Primary lymphoma of the conjunctiva | -| Orphanet:98838 | Primary mediastinal large B-cell lymphoma | -| Orphanet:238642 | Primary megaureter, adult-onset form | -| Orphanet:252028 | Primary melanocytic tumor of central nervous system | -| Orphanet:252050 | Primary melanoma of the central nervous system | -| Orphanet:54370 | Primary membranoproliferative glomerulonephritis | -| Orphanet:97560 | Primary membranous glomerulonephritis | -| Orphanet:306558 | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | -| Orphanet:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | -| Orphanet:824 | Primary myelofibrosis | -| Orphanet:306750 | Primary myoclonus | -| Orphanet:357225 | Primary non-essential cutis verticis gyrata | -| Orphanet:289356 | Primary non-gestational choriocarcinoma of ovary | -| Orphanet:279897 | Primary oculocerebral lymphoma | -| Orphanet:521236 | Primary orthostatic disorder | -| Orphanet:182058 | Primary orthostatic hypotension | -| Orphanet:238606 | Primary orthostatic tremor | -| Orphanet:93449 | Primary osteolysis | -| Orphanet:875 | Primary pediatric heart tumor | -| Orphanet:168829 | Primary peritoneal carcinoma | -| Orphanet:168803 | Primary peritoneal tumor | -| Orphanet:100021 | Primary plasmacytoma of the bone | -| Orphanet:439737 | Primary polyarteritis nodosa | -| Orphanet:95432 | Primary progressive aphasia | -| Orphanet:314566 | Primary progressive apraxia of speech | -| Orphanet:75567 | Primary progressive freezing gait | -| Orphanet:2257 | Primary pulmonary hypoplasia | -| Orphanet:2420 | Primary pulmonary lymphoma | -| Orphanet:645814 | Primary pulmonary tuberculosis | -| Orphanet:642071 | Primary pulmonary vein stenosis | -| Orphanet:371040 | Primary qualitative or quantitative defects of alpha-dystroglycan | -| Orphanet:314822 | Primary renal tubular acidosis | -| Orphanet:171 | Primary sclerosing cholangitis | -| Orphanet:99856 | Primary syringomyelia | -| Orphanet:314701 | Primary systemic amyloidosis | -| Orphanet:268861 | Primary tethered cord syndrome | -| Orphanet:565612 | Primary triglyceride deposit cardiomyovasculopathy | -| Orphanet:645859 | Primary tuberculosis of the digestive system | -| Orphanet:645807 | Primary tuberculous lymphadenitis | -| Orphanet:231580 | Primary unilateral adrenal hyperplasia | -| Orphanet:213812 | Primitive neuroectodermal tumor of the cervix uteri | -| Orphanet:213630 | Primitive neuroectodermal tumor of the corpus uteri | -| Orphanet:854 | Primitive portal vein thrombosis | -| Orphanet:141099 | Proboscis lateralis | -| Orphanet:2959 | Progeria-short stature-pigmented nevi syndrome | -| Orphanet:300382 | Progeroid and marfanoid aspect-lipodystrophy syndrome | -| Orphanet:435953 | Progeroid features-hepatocellular carcinoma predisposition syndrome | -| Orphanet:139033 | Progeroid syndrome | -| Orphanet:2963 | Progeroid syndrome, Petty type | -| Orphanet:448251 | Progressive autosomal recessive ataxia-deafness syndrome | -| Orphanet:75373 | Progressive bifocal chorioretinal atrophy | -| Orphanet:139447 | Progressive cavitating leukoencephalopathy | -| Orphanet:247198 | Progressive cerebello-cerebral atrophy | -| Orphanet:1871 | Progressive cone dystrophy | -| Orphanet:3235 | Progressive deafness with stapes fixation | -| Orphanet:530303 | Progressive dementia with neuroserpin inclusion bodies | -| Orphanet:438266 | Progressive encephalomyelitis with rigidity and myoclonus | -| Orphanet:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | -| Orphanet:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | -| Orphanet:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | -| Orphanet:520820 | Progressive external ophthalmoplegia | -| Orphanet:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | -| Orphanet:172 | Progressive familial intrahepatic cholestasis | -| Orphanet:79306 | Progressive familial intrahepatic cholestasis type 1 | -| Orphanet:79304 | Progressive familial intrahepatic cholestasis type 2 | -| Orphanet:79305 | Progressive familial intrahepatic cholestasis type 3 | -| Orphanet:480483 | Progressive familial intrahepatic cholestasis type 4 | -| Orphanet:480476 | Progressive familial intrahepatic cholestasis type 5 | -| Orphanet:1214 | Progressive hemifacial atrophy | -| Orphanet:477814 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | -| Orphanet:217260 | Progressive multifocal leukoencephalopathy | -| Orphanet:454706 | Progressive muscular atrophy | -| Orphanet:206644 | Progressive muscular dystrophy | -| Orphanet:98261 | Progressive myoclonic epilepsy | -| Orphanet:308 | Progressive myoclonic epilepsy type 1 | -| Orphanet:263516 | Progressive myoclonic epilepsy type 3 | -| Orphanet:402082 | Progressive myoclonic epilepsy type 5 | -| Orphanet:280620 | Progressive myoclonic epilepsy type 6 | -| Orphanet:435438 | Progressive myoclonic epilepsy type 7 | -| Orphanet:424027 | Progressive myoclonic epilepsy type 8 | -| Orphanet:457265 | Progressive myoclonic epilepsy type 9 | -| Orphanet:352596 | Progressive myoclonic epilepsy with dystonia | -| Orphanet:530298 | Progressive myoclonic epilepsy with neuroserpin inclusion bodies | -| Orphanet:158022 | Progressive nodular histiocytosis | -| Orphanet:100070 | Progressive non-fluent aphasia | -| Orphanet:2062 | Progressive non-infectious anterior vertebral fusion | -| Orphanet:2762 | Progressive osseous heteroplasia | -| Orphanet:217396 | Progressive polyneuropathy with bilateral striatal necrosis | -| Orphanet:1159 | Progressive pseudorheumatoid arthropathy of childhood | -| Orphanet:352718 | Progressive retinal dystrophy due to retinol transport defect | -| Orphanet:447977 | Progressive scapulohumeroperoneal distal myopathy | -| Orphanet:228012 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | -| Orphanet:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | -| Orphanet:683 | Progressive supranuclear palsy | -| Orphanet:240103 | Progressive supranuclear palsy-corticobasal syndrome | -| Orphanet:240085 | Progressive supranuclear palsy-parkinsonism syndrome | -| Orphanet:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | -| Orphanet:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | -| Orphanet:316 | Progressive symmetric erythrokeratodermia | -| Orphanet:2965 | Prolactinoma | -| Orphanet:742 | Prolidase deficiency | -| Orphanet:492 | Proliferating trichilemmal cyst | -| Orphanet:2083 | Prominent glabella-microcephaly-hypogenitalism syndrome | -| Orphanet:2966 | Properdin deficiency | -| Orphanet:35 | Propionic acidemia | -| Orphanet:485358 | Propylthiouracil embryofetopathy | -| Orphanet:324977 | Proteasome-associated autoinflammatory syndrome | -| Orphanet:26349 | Protein S acquired deficiency | -| Orphanet:744 | Proteus syndrome | -| Orphanet:2969 | Proteus-like syndrome | -| Orphanet:411696 | Proton-pump inhibitor-responsive esophageal eosinophilia | -| Orphanet:251598 | Protoplasmic astrocytoma | -| Orphanet:261197 | Proximal 16p11.2 microdeletion syndrome | -| Orphanet:370079 | Proximal 16p11.2 microduplication syndrome | -| Orphanet:1762 | Proximal Xq28 duplication syndrome | -| Orphanet:633228 | Proximal femoral focal deficiency | -| Orphanet:401768 | Proximal myopathy with extrapyramidal signs | -| Orphanet:521305 | Proximal myopathy with focal depletion of mitochondria | -| Orphanet:606 | Proximal myotonic myopathy | -| Orphanet:47159 | Proximal renal tubular acidosis | -| Orphanet:70 | Proximal spinal muscular atrophy | -| Orphanet:83330 | Proximal spinal muscular atrophy type 1 | -| Orphanet:83418 | Proximal spinal muscular atrophy type 2 | -| Orphanet:83419 | Proximal spinal muscular atrophy type 3 | -| Orphanet:83420 | Proximal spinal muscular atrophy type 4 | -| Orphanet:3250 | Proximal symphalangism | -| Orphanet:2970 | Prune belly syndrome | -| Orphanet:64745 | Pruritic urticarial papules and plaques of pregnancy | -| Orphanet:641390 | PsAPASH syndrome | -| Orphanet:314459 | Pseudo-Meigs syndrome | -| Orphanet:52530 | Pseudo-von Willebrand disease | -| Orphanet:750 | Pseudoachondroplasia | -| Orphanet:221120 | Pseudoaminopterin syndrome | -| Orphanet:85174 | Pseudodiastrophic dysplasia | -| Orphanet:444916 | Pseudohypoaldosteronism | -| Orphanet:756 | Pseudohypoaldosteronism type 1 | -| Orphanet:757 | Pseudohypoaldosteronism type 2 | -| Orphanet:88938 | Pseudohypoaldosteronism type 2A | -| Orphanet:88939 | Pseudohypoaldosteronism type 2B | -| Orphanet:88940 | Pseudohypoaldosteronism type 2C | -| Orphanet:300525 | Pseudohypoaldosteronism type 2D | -| Orphanet:300530 | Pseudohypoaldosteronism type 2E | -| Orphanet:97593 | Pseudohypoparathyroidism | -| Orphanet:79443 | Pseudohypoparathyroidism type 1A | -| Orphanet:94089 | Pseudohypoparathyroidism type 1B | -| Orphanet:79444 | Pseudohypoparathyroidism type 1C | -| Orphanet:94090 | Pseudohypoparathyroidism type 2 | -| Orphanet:457059 | Pseudohypoparathyroidism with Albright hereditary osteodystrophy | -| Orphanet:457062 | Pseudohypoparathyroidism without Albright hereditary osteodystrophy | -| Orphanet:2976 | Pseudoleprechaunism syndrome, Patterson type | -| Orphanet:26790 | Pseudomyxoma peritonei | -| Orphanet:519339 | Pseudopapilledema | -| Orphanet:129 | Pseudopelade of Brocq | -| Orphanet:2985 | Pseudoprogeria syndrome | -| Orphanet:79445 | Pseudopseudohypoparathyroidism | -| Orphanet:83316 | Pseudotyphus of California | -| Orphanet:180079 | Pseudounicornuate uterus | -| Orphanet:758 | Pseudoxanthoma elasticum | -| Orphanet:228293 | Pseudoxanthoma elasticum-like papillary dermal elastolysis | -| Orphanet:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | -| Orphanet:280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis | -| Orphanet:85436 | Psoriasis-related juvenile idiopathic arthritis | -| Orphanet:71519 | Psychogenic movement disorders | -| Orphanet:505242 | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome | -| Orphanet:1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | -| Orphanet:2988 | Pterygium colli-intellectual disability-digital anomalies syndrome | -| Orphanet:2999 | Ptosis-strabismus-ectopic pupils syndrome | -| Orphanet:228396 | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | -| Orphanet:2997 | Ptosis-vocal cord paralysis syndrome | -| Orphanet:60039 | Pudendal neuralgia | -| Orphanet:984 | Pulmonary agenesis | -| Orphanet:60025 | Pulmonary alveolar microlithiasis | -| Orphanet:2038 | Pulmonary arteriovenous malformation | -| Orphanet:99049 | Pulmonary artery coming from patent ductus arteriosus | -| Orphanet:99083 | Pulmonary artery hypoplasia | -| Orphanet:98719 | Pulmonary artery or pulmonary branch anomaly | -| Orphanet:1207 | Pulmonary atresia with ventricular septal defect | -| Orphanet:1208 | Pulmonary atresia-intact ventricular septum syndrome | -| Orphanet:64741 | Pulmonary blastoma | -| Orphanet:199241 | Pulmonary capillary hemangiomatosis | -| Orphanet:210136 | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome | -| Orphanet:275837 | Pulmonary hypertension owing to lung disease and/or hypoxia | -| Orphanet:275844 | Pulmonary hypertension with unclear multifactorial mechanism | -| Orphanet:217557 | Pulmonary interstitial glycogenosis | -| Orphanet:60026 | Pulmonary nodular lymphoid hyperplasia | -| Orphanet:411703 | Pulmonary non-tuberculous mycobacterial infection | -| Orphanet:982 | Pulmonary valve agenesis | -| Orphanet:99048 | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome | -| Orphanet:101206 | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome | -| Orphanet:431353 | Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | -| Orphanet:31837 | Pulmonary venoocclusive disease | -| Orphanet:98984 | Pulverulent cataract | -| Orphanet:99710 | Punctate acrokeratoderma freckle-like pigmentation | -| Orphanet:580951 | Punctate inner choroidopathy | -| Orphanet:307967 | Punctate palmoplantar keratoderma | -| Orphanet:79501 | Punctate palmoplantar keratoderma type 1 | -| Orphanet:79502 | Punctate palmoplantar keratoderma type 2 | -| Orphanet:441 | Pure autonomic failure | -| Orphanet:69084 | Pure hair and nail ectodermal dysplasia | -| Orphanet:102012 | Pure hereditary spastic paraplegia | -| Orphanet:254854 | Pure mitochondrial myopathy | -| Orphanet:320350 | Pure or complex X-linked spastic paraplegia | -| Orphanet:320342 | Pure or complex autosomal dominant spastic paraplegia | -| Orphanet:320346 | Pure or complex autosomal recessive spastic paraplegia | -| Orphanet:320335 | Pure or complex hereditary spastic paraplegia | -| Orphanet:760 | Purine nucleoside phosphorylase deficiency | -| Orphanet:538866 | Pustular pyoderma gangrenosum | -| Orphanet:163927 | Pustulosis palmaris et plantaris | -| Orphanet:763 | Pycnodysostosis | -| Orphanet:3003 | Pyknoachondrogenesis | -| Orphanet:3005 | Pyle disease | -| Orphanet:48104 | Pyoderma gangrenosum | -| Orphanet:324927 | Pyogenic autoinflammatory syndrome | -| Orphanet:324942 | Pyogenic autoinflammatory syndrome of childhood | -| Orphanet:764 | Pyomyositis | -| Orphanet:2561 | Pyramidal molars-abnormal upper lip syndrome | -| Orphanet:79096 | Pyridoxal phosphate-responsive seizures | -| Orphanet:3006 | Pyridoxine-dependent epilepsy | -| Orphanet:3008 | Pyruvate carboxylase deficiency | -| Orphanet:353320 | Pyruvate carboxylase deficiency, benign type | -| Orphanet:353308 | Pyruvate carboxylase deficiency, infantile type | -| Orphanet:353314 | Pyruvate carboxylase deficiency, severe neonatal type | -| Orphanet:79243 | Pyruvate dehydrogenase E1-alpha deficiency | -| Orphanet:255138 | Pyruvate dehydrogenase E1-beta deficiency | -| Orphanet:79244 | Pyruvate dehydrogenase E2 deficiency | -| Orphanet:2394 | Pyruvate dehydrogenase E3 deficiency | -| Orphanet:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | -| Orphanet:765 | Pyruvate dehydrogenase deficiency | -| Orphanet:79246 | Pyruvate dehydrogenase phosphatase deficiency | -| Orphanet:254746 | Pyruvate metabolism disorder | -| Orphanet:781 | Q fever | -| Orphanet:580940 | QRICH1-related intellectual disability-chondrodysplasia syndrome | -| Orphanet:570491 | QRSL1-related combined oxidative phosphorylation defect | -| Orphanet:3010 | Qazi-Markouizos syndrome | -| Orphanet:542568 | Quadricuspid aortic valve | -| Orphanet:207119 | Qualitative or quantitative defects of FKRP | -| Orphanet:207107 | Qualitative or quantitative defects of TRIM32 | -| Orphanet:424925 | Qualitative or quantitative defects of Torsin-1A-interacting protein 1 | -| Orphanet:209059 | Qualitative or quantitative defects of alpha-actin | -| Orphanet:371024 | Qualitative or quantitative defects of alpha-dystroglycan | -| Orphanet:207060 | Qualitative or quantitative defects of alpha-sarcoglycan | -| Orphanet:209044 | Qualitative or quantitative defects of alphaB-cristallin | -| Orphanet:209185 | Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | -| Orphanet:207063 | Qualitative or quantitative defects of beta-sarcoglycan | -| Orphanet:207104 | Qualitative or quantitative defects of calpain | -| Orphanet:207078 | Qualitative or quantitative defects of caveolin-3 | -| Orphanet:207070 | Qualitative or quantitative defects of delta-sarcoglycan | -| Orphanet:209041 | Qualitative or quantitative defects of desmin | -| Orphanet:207073 | Qualitative or quantitative defects of dysferlin | -| Orphanet:207085 | Qualitative or quantitative defects of dystrophin | -| Orphanet:209188 | Qualitative or quantitative defects of emerin | -| Orphanet:209047 | Qualitative or quantitative defects of filamin C | -| Orphanet:207122 | Qualitative or quantitative defects of fukutin | -| Orphanet:207067 | Qualitative or quantitative defects of gamma-sarcoglycan | -| Orphanet:209203 | Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | -| Orphanet:207098 | Qualitative or quantitative defects of integrin alpha-7 | -| Orphanet:209038 | Qualitative or quantitative defects of myofibrillar proteins | -| Orphanet:207110 | Qualitative or quantitative defects of myotubularin | -| Orphanet:209182 | Qualitative or quantitative defects of nebulin | -| Orphanet:207101 | Qualitative or quantitative defects of perlecan | -| Orphanet:209196 | Qualitative or quantitative defects of plectin | -| Orphanet:209024 | Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase | -| Orphanet:209030 | Qualitative or quantitative defects of protein O-mannosyltransferase 1 | -| Orphanet:209033 | Qualitative or quantitative defects of protein O-mannosyltransferase 2 | -| Orphanet:209199 | Qualitative or quantitative defects of protein SERCA1 | -| Orphanet:209050 | Qualitative or quantitative defects of protein ZASP | -| Orphanet:209027 | Qualitative or quantitative defects of protein glycosyltransferase-like | -| Orphanet:207113 | Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | -| Orphanet:207052 | Qualitative or quantitative defects of sarcoglycan | -| Orphanet:209193 | Qualitative or quantitative defects of selenoprotein N1 | -| Orphanet:209056 | Qualitative or quantitative defects of telethonin | -| Orphanet:209053 | Qualitative or quantitative defects of titin | -| Orphanet:284790 | Qualitative or quantitative defects of tropomyosin | -| Orphanet:284786 | Qualitative or quantitative defects of troponin | -| Orphanet:207049 | Qualitative or quantitative protein defects in neuromuscular diseases | -| Orphanet:101985 | Quantitative and/or qualitative congenital phagocyte defect | -| Orphanet:220436 | Quebec platelet disorder | -| Orphanet:346 | Quinquaud folliculitis decalvans | -| Orphanet:3021 | RAPADILINO syndrome | -| Orphanet:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | -| Orphanet:268114 | RAS-associated autoimmune leukoproliferative disease | -| Orphanet:536391 | RASopathy | -| Orphanet:530792 | RELA fusion-positive ependymoma | -| Orphanet:217330 | REN-related autosomal dominant tubulointerstitial kidney disease | -| Orphanet:494344 | RERE-related neurodevelopmental syndrome | -| Orphanet:244310 | RFT1-CDG | -| Orphanet:572543 | RFVT2-related riboflavin transporter deficiency | -| Orphanet:572550 | RFVT3-related riboflavin transporter deficiency | -| Orphanet:140976 | RHYNS syndrome | -| Orphanet:420741 | RIDDLE syndrome | -| Orphanet:217335 | RIN2 syndrome | -| Orphanet:544503 | RNF13-related severe early-onset epileptic encephalopathy | -| Orphanet:770 | Rabies | -| Orphanet:769 | Rabson-Mendenhall syndrome | -| Orphanet:1121 | Radial deficiency-tibial hypoplasia syndrome | -| Orphanet:93321 | Radial hemimelia | -| Orphanet:2252 | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | -| Orphanet:3026 | Radial ray hypoplasia-choanal atresia syndrome | -| Orphanet:90021 | Radiation myelitis | -| Orphanet:70475 | Radiation proctitis | -| Orphanet:521132 | Radiation-induced disorder | -| Orphanet:521123 | Radiation-induced plexopathy | -| Orphanet:3015 | Radio-renal syndrome | -| Orphanet:295219 | Radio-ulnar synostosis, bilateral | -| Orphanet:295217 | Radio-ulnar synostosis, unilateral | -| Orphanet:71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | -| Orphanet:3270 | Radioulnar synostosis-developmental delay-hypotonia syndrome | -| Orphanet:3268 | Radioulnar synostosis-microcephaly-scoliosis syndrome | -| Orphanet:3019 | Ramon syndrome | -| Orphanet:1051 | Ramos-Arroyo syndrome | -| Orphanet:3020 | Ramsay Hunt syndrome | -| Orphanet:293987 | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome | -| Orphanet:71517 | Rapid-onset dystonia-parkinsonism | -| Orphanet:141184 | Rapidly involuting congenital hemangioma | -| Orphanet:90625 | Rare X-linked non-syndromic sensorineural deafness type DFN | -| Orphanet:165711 | Rare abdominal surgical disease | -| Orphanet:248302 | Rare acquired deficiency anemia | -| Orphanet:182047 | Rare acquired hemolytic anemia | -| Orphanet:213528 | Rare adenocarcinoma of the breast | -| Orphanet:101954 | Rare adrenal disease | -| Orphanet:649017 | Rare adrenocortical nodular disease | -| Orphanet:647768 | Rare adrenocortical nodular disease with Cushing syndrome as a major feature | -| Orphanet:177101 | Rare adult hypothyroidism | -| Orphanet:98050 | Rare allergic disease | -| Orphanet:98052 | Rare allergic respiratory disease | -| Orphanet:108997 | Rare anemia | -| Orphanet:211266 | Rare arteriovenous malformation | -| Orphanet:102002 | Rare ataxia | -| Orphanet:98727 | Rare atrial defect and interatrial communication | -| Orphanet:423662 | Rare autonomic nervous system disorder | -| Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA | -| Orphanet:90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB | -| Orphanet:163582 | Rare bacterial infectious disease | -| Orphanet:180253 | Rare benign breast tumor | -| Orphanet:97293 | Rare benign ovarian tumor | -| Orphanet:101941 | Rare biliary tract disease | -| Orphanet:139012 | Rare bone development disorder | -| Orphanet:93419 | Rare bone disease | -| Orphanet:364803 | Rare bone disease related to a common gene or pathway defect | -| Orphanet:68411 | Rare bone tumor | -| Orphanet:519341 | Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature | -| Orphanet:180163 | Rare breast malformation | -| Orphanet:180250 | Rare breast tumor | -| Orphanet:101945 | Rare bronchopulmonary tumor | -| Orphanet:213761 | Rare cancer of cervix uteri | -| Orphanet:213569 | Rare cancer of corpus uteri | -| Orphanet:211247 | Rare capillary malformation | -| Orphanet:458830 | Rare capillary malformation with associated anomalies | -| Orphanet:217074 | Rare carcinoma of pancreas | -| Orphanet:423771 | Rare carcinoma of stomach | -| Orphanet:97929 | Rare cardiac disease | -| Orphanet:218436 | Rare cardiac rhythm disease | -| Orphanet:168194 | Rare cardiac tumor | -| Orphanet:167848 | Rare cardiomyopathy | -| Orphanet:93618 | Rare cause of hypertension | -| Orphanet:71281 | Rare central nervous system and retinal vascular disease | -| Orphanet:650063 | Rare central precocious puberty | -| Orphanet:650070 | Rare central precocious puberty in female | -| Orphanet:98549 | Rare cerebrovascular dementia | -| Orphanet:306715 | Rare choreic movement disorder | -| Orphanet:68335 | Rare chromosomal anomaly | -| Orphanet:98028 | Rare circulatory system disease | -| Orphanet:98429 | Rare coagulation disorder | -| Orphanet:458837 | Rare combined vascular malformation | -| Orphanet:474347 | Rare congenital anomaly of ventricular septum | -| Orphanet:88991 | Rare congenital non-syndromic heart malformation | -| Orphanet:519280 | Rare conjunctivitis | -| Orphanet:183651 | Rare constitutional anemia | -| Orphanet:182043 | Rare constitutional hemolytic anemia | -| Orphanet:98364 | Rare constitutional hemolytic anemia due to a red cell membrane anomaly | -| Orphanet:98369 | Rare constitutional hemolytic anemia due to an enzyme disorder | -| Orphanet:254370 | Rare cutaneous lichen planus | -| Orphanet:535 | Rare cutaneous lupus erythematosus | -| Orphanet:68361 | Rare deafness | -| Orphanet:248293 | Rare deficiency anemia | -| Orphanet:89043 | Rare dementia | -| Orphanet:93890 | Rare developmental defect during embryogenesis | -| Orphanet:139030 | Rare developmental defect with connective tissue involvement | -| Orphanet:139027 | Rare developmental defect with skin/mucosae involvement | -| Orphanet:101952 | Rare diabetes mellitus | -| Orphanet:181371 | Rare diabetes mellitus type 1 | -| Orphanet:181376 | Rare diabetes mellitus type 2 | -| Orphanet:98059 | Rare digestive tumor | -| Orphanet:138044 | Rare disease with Pierre Robin syndrome | -| Orphanet:314749 | Rare disease with adrenal Cushing syndrome as a major feature | -| Orphanet:180772 | Rare disease with autism | -| Orphanet:167762 | Rare disease with dentinogenesis imperfecta | -| Orphanet:98638 | Rare disease with glaucoma as a major feature | -| Orphanet:466658 | Rare disease with malignant hyperthermia | -| Orphanet:306753 | Rare disease with myoclonus as a major feature | -| Orphanet:98027 | Rare disease with odontological manifestation | -| Orphanet:285014 | Rare disease with thoracic aortic aneurysm and aortic dissection | -| Orphanet:617313 | Rare disorder due to inadequate sharing of the placenta | -| Orphanet:556508 | Rare disorder due to poisoning | -| Orphanet:108999 | Rare disorder due to toxic effects | -| Orphanet:617310 | Rare disorder due to unbalanced inter-twin blood transfusion | -| Orphanet:98602 | Rare disorder of the lacrimal apparatus | -| Orphanet:520814 | Rare disorder of the visual organs | -| Orphanet:565779 | Rare disorder potentially indicated for transplant or complication after transplantation | -| Orphanet:163637 | Rare disorder related with pregnancy, childbirth and puerperium | -| Orphanet:477771 | Rare disorder with a moyamoya angiopathy | -| Orphanet:98610 | Rare disorder with conjunctival involvement as a major feature | -| Orphanet:519288 | Rare disorder with corneal involvement as a major feature | -| Orphanet:370106 | Rare disorder with dystonia and other neurologic or systemic manifestation | -| Orphanet:519270 | Rare disorder with entropion | -| Orphanet:399846 | Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism | -| Orphanet:181441 | Rare disorder with hypergonadotropic hypogonadism | -| Orphanet:79365 | Rare disorder with hypertrichosis | -| Orphanet:98640 | Rare disorder with lens opacification | -| Orphanet:181387 | Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism | -| Orphanet:399824 | Rare disorder with obstructive azoospermia | -| Orphanet:519296 | Rare disorder with pigmented sclera | -| Orphanet:98578 | Rare disorder with ptosis | -| Orphanet:98681 | Rare disorder with strabismus | -| Orphanet:101953 | Rare dyslipidemia | -| Orphanet:68363 | Rare dystonia | -| Orphanet:97978 | Rare endocrine disease | -| Orphanet:90692 | Rare endocrine growth disease | -| Orphanet:101998 | Rare epilepsy | -| Orphanet:424033 | Rare epithelial tumor of pancreas | -| Orphanet:63443 | Rare epithelial tumor of stomach | -| Orphanet:101950 | Rare eye tumor | -| Orphanet:98594 | Rare eyebrow/eyelash disorder | -| Orphanet:98567 | Rare eyelid malposition disorder | -| Orphanet:98049 | Rare female infertility | -| Orphanet:399839 | Rare female infertility due to a congenital hypogonadotropic hypogonadism | -| Orphanet:400018 | Rare female infertility due to adrenal disorder of genetic origin | -| Orphanet:399849 | Rare female infertility due to an adrenal disorder | -| Orphanet:399853 | Rare female infertility due to an anomaly of ovarian function | -| Orphanet:400022 | Rare female infertility due to an anomaly of ovarian function of genetic origin | -| Orphanet:399882 | Rare female infertility due to an implantation defect | -| Orphanet:399877 | Rare female infertility due to gonadal dysgenesis | -| Orphanet:399831 | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder | -| Orphanet:400011 | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | -| Orphanet:404469 | Rare female infertility due to oocyte maturation defect | -| Orphanet:795 | Rare form of salmonellosis | -| Orphanet:97935 | Rare gastroenterologic disease | -| Orphanet:101936 | Rare gastroesophageal disease | -| Orphanet:180821 | Rare gastroesophageal tumor | -| Orphanet:183637 | Rare genetic adrenal disease | -| Orphanet:434786 | Rare genetic autonomic nervous system disorder | -| Orphanet:404584 | Rare genetic bone development disorder | -| Orphanet:183524 | Rare genetic bone disease | -| Orphanet:522506 | Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | -| Orphanet:459526 | Rare genetic capillary malformation | -| Orphanet:98054 | Rare genetic cardiac disease | -| Orphanet:156629 | Rare genetic cause of hypertension | -| Orphanet:183654 | Rare genetic coagulation disorder | -| Orphanet:96210 | Rare genetic deafness | -| Orphanet:183530 | Rare genetic developmental defect during embryogenesis | -| Orphanet:183625 | Rare genetic diabetes mellitus | -| Orphanet:98053 | Rare genetic disease | -| Orphanet:307067 | Rare genetic disease with myoclonus as a major feature | -| Orphanet:522532 | Rare genetic disorder of the lacrimal apparatus | -| Orphanet:522504 | Rare genetic disorder of the visual organs | -| Orphanet:522558 | Rare genetic disorder with corneal involvement as a major feature | -| Orphanet:522530 | Rare genetic disorder with entropion | -| Orphanet:522546 | Rare genetic disorder with lens opacification | -| Orphanet:400003 | Rare genetic disorder with obstructive azoospermia | -| Orphanet:522518 | Rare genetic disorder with strabismus | -| Orphanet:391799 | Rare genetic dystonia | -| Orphanet:156638 | Rare genetic endocrine disease | -| Orphanet:183512 | Rare genetic epilepsy | -| Orphanet:101435 | Rare genetic eye disease | -| Orphanet:522528 | Rare genetic eyelid malposition disorder | -| Orphanet:400008 | Rare genetic female infertility | -| Orphanet:165652 | Rare genetic gastroenterological disease | -| Orphanet:183731 | Rare genetic gynecological and obstetrical diseases | -| Orphanet:183509 | Rare genetic headache | -| Orphanet:158300 | Rare genetic hematologic disease | -| Orphanet:156601 | Rare genetic hepatic disease | -| Orphanet:496916 | Rare genetic hyperkinetic movement disorder | -| Orphanet:183628 | Rare genetic hypothalamic or pituitary disease | -| Orphanet:183770 | Rare genetic immune disease | -| Orphanet:522566 | Rare genetic inflammatory/autoimmune corneal disorder | -| Orphanet:183757 | Rare genetic intellectual disability | -| Orphanet:522574 | Rare genetic macular disorder | -| Orphanet:399980 | Rare genetic male infertility | -| Orphanet:183515 | Rare genetic medullar disease | -| Orphanet:183521 | Rare genetic movement disorder | -| Orphanet:307064 | Rare genetic myoclonus | -| Orphanet:71859 | Rare genetic neurological disorder | -| Orphanet:522522 | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly | -| Orphanet:522516 | Rare genetic ocular motility/alignment disorder | -| Orphanet:420755 | Rare genetic odontal or periodontal disorder | -| Orphanet:77830 | Rare genetic odontologic disease | -| Orphanet:522508 | Rare genetic ophthalmic disorder with cortical involvement | -| Orphanet:522510 | Rare genetic ophthalmic disorder with cranial nerve involvement | -| Orphanet:522512 | Rare genetic optic nerve disorder | -| Orphanet:522526 | Rare genetic palpebral disorder | -| Orphanet:183634 | Rare genetic parathyroid disease and phosphocalcic metabolism disorder | -| Orphanet:307052 | Rare genetic parkinsonian disorder | -| Orphanet:98056 | Rare genetic renal disease | -| Orphanet:156610 | Rare genetic respiratory disease | -| Orphanet:522576 | Rare genetic retinal vasculopathy | -| Orphanet:68346 | Rare genetic skin disease | -| Orphanet:183763 | Rare genetic syndromic intellectual disability | -| Orphanet:271870 | Rare genetic systemic or rheumatologic disease | -| Orphanet:183631 | Rare genetic thyroid disease | -| Orphanet:307061 | Rare genetic tremor disorder | -| Orphanet:68336 | Rare genetic tumor | -| Orphanet:156619 | Rare genetic urogenital disease | -| Orphanet:233655 | Rare genetic vascular disease | -| Orphanet:459543 | Rare genetic vascular tumor | -| Orphanet:459548 | Rare genetic venous malformation | -| Orphanet:96344 | Rare gynecologic or obstetric disease | -| Orphanet:98063 | Rare gynecological tumor | -| Orphanet:155832 | Rare head and neck malformation | -| Orphanet:290849 | Rare head and neck tumor | -| Orphanet:98022 | Rare headache | -| Orphanet:97992 | Rare hematologic disease | -| Orphanet:98363 | Rare hemolytic anemia | -| Orphanet:248308 | Rare hemorrhagic disorder | -| Orphanet:248315 | Rare hemorrhagic disorder due to a coagulation factors defect | -| Orphanet:68334 | Rare hemorrhagic disorder due to a constitutional coagulation factors defect | -| Orphanet:71202 | Rare hemorrhagic disorder due to a constitutional platelet anomaly | -| Orphanet:275729 | Rare hemorrhagic disorder due to a constitutional thrombocytopenia | -| Orphanet:248326 | Rare hemorrhagic disorder due to a platelet anomaly | -| Orphanet:275736 | Rare hemorrhagic disorder due to a qualitative platelet defect | -| Orphanet:166775 | Rare hemorrhagic disorder due to an acquired coagulation factor defect | -| Orphanet:248347 | Rare hemorrhagic disorder due to an acquired platelet anomaly | -| Orphanet:101943 | Rare hepatic and biliary tract tumor | -| Orphanet:57146 | Rare hepatic disease | -| Orphanet:619238 | Rare hereditary autoinflammatory disease | -| Orphanet:399185 | Rare hereditary disease with avascular necrosis | -| Orphanet:207015 | Rare hereditary disease with peripheral neuropathy | -| Orphanet:207018 | Rare hereditary metabolic disease with peripheral neuropathy | -| Orphanet:207025 | Rare hereditary neurologic disease with peripheral neuropathy | -| Orphanet:207021 | Rare hereditary systemic disease with peripheral neuropathy | -| Orphanet:217454 | Rare hereditary thrombophilia | -| Orphanet:477811 | Rare hypercholesterolemia | -| Orphanet:494457 | Rare hyperkinetic movement disorder | -| Orphanet:181422 | Rare hyperlipidemia | -| Orphanet:98621 | Rare hyperopia and astigmatism | -| Orphanet:181408 | Rare hyperparathyroidism | -| Orphanet:181399 | Rare hyperthyroidism | -| Orphanet:181419 | Rare hypoaldosteronism | -| Orphanet:181431 | Rare hypolipidemia | -| Orphanet:181405 | Rare hypoparathyroidism | -| Orphanet:181384 | Rare hypothalamic or pituitary disease | -| Orphanet:181396 | Rare hypothyroidism | -| Orphanet:482092 | Rare idiopathic macular telangiectasia | -| Orphanet:98004 | Rare immune disease | -| Orphanet:68367 | Rare inborn errors of metabolism | -| Orphanet:68416 | Rare infectious disease | -| Orphanet:98047 | Rare infertility | -| Orphanet:519290 | Rare inflammatory/autoimmune corneal disorder | -| Orphanet:181368 | Rare insulin-resistance syndrome | -| Orphanet:87277 | Rare intellectual disability | -| Orphanet:117569 | Rare intestinal disease | -| Orphanet:306640 | Rare intoxication due to medical products | -| Orphanet:98619 | Rare isolated myopia | -| Orphanet:98639 | Rare lens disease | -| Orphanet:254367 | Rare lichen planus | -| Orphanet:2415 | Rare lymphatic malformation | -| Orphanet:211255 | Rare lymphatic system anomaly | -| Orphanet:519313 | Rare macular disorder | -| Orphanet:98048 | Rare male infertility | -| Orphanet:399584 | Rare male infertility due to adrenal disorder | -| Orphanet:399994 | Rare male infertility due to adrenal disorder of genetic origin | -| Orphanet:399572 | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder | -| Orphanet:399983 | Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | -| Orphanet:399685 | Rare male infertility due to testicular endocrine disorder | -| Orphanet:180257 | Rare malignant breast tumor | -| Orphanet:68329 | Rare maxillo-facial surgical disease | -| Orphanet:101940 | Rare metabolic liver disease | -| Orphanet:90641 | Rare mitochondrial non-syndromic sensorineural deafness | -| Orphanet:102003 | Rare movement disorder | -| Orphanet:254373 | Rare mucosal lichen planus | -| Orphanet:163591 | Rare mycosis | -| Orphanet:306747 | Rare myoclonus | -| Orphanet:300515 | Rare nail tumor | -| Orphanet:250908 | Rare neoplastic disease | -| Orphanet:98062 | Rare nervous system tumor | -| Orphanet:182070 | Rare neurodegenerative disease | -| Orphanet:182064 | Rare neuroinflammatory or neuroimmunological disease | -| Orphanet:98006 | Rare neurologic disease | -| Orphanet:98033 | Rare neurologic disease with psychiatric involvement | -| Orphanet:294057 | Rare nevus | -| Orphanet:231641 | Rare non surgically correctable form of primary aldosteronism | -| Orphanet:180202 | Rare non-malformative breast disease | -| Orphanet:180199 | Rare non-malformative gynecologic or obstetric disease | -| Orphanet:180303 | Rare non-malformative uterine adnexal disease | -| Orphanet:180205 | Rare non-malformative uterovaginal or vulvovaginal disease | -| Orphanet:101685 | Rare non-syndromic intellectual disability | -| Orphanet:519355 | Rare ocular motility/alignment disorder | -| Orphanet:98685 | Rare oculomotor nerve disorder | -| Orphanet:164001 | Rare odontal or periodontal disorder | -| Orphanet:314425 | Rare odontogenic tumor | -| Orphanet:98026 | Rare odontologic disease | -| Orphanet:97966 | Rare ophthalmic disorder | -| Orphanet:519343 | Rare ophthalmic disorder with cortical involvement | -| Orphanet:519349 | Rare ophthalmic disorder with cranial nerve involvement | -| Orphanet:98036 | Rare otorhinolaryngologic disease | -| Orphanet:98061 | Rare otorhinolaryngologic tumor | -| Orphanet:96333 | Rare otorhinolaryngological malformation | -| Orphanet:98560 | Rare palpebral disorder | -| Orphanet:101937 | Rare pancreatic disease | -| Orphanet:163588 | Rare parasitic disease | -| Orphanet:68415 | Rare parathyroid disease and phosphocalcic metabolism anomaly | -| Orphanet:100090 | Rare parathyroid tumor | -| Orphanet:101939 | Rare parenchymal liver disease | -| Orphanet:68402 | Rare parkinsonian disorder | -| Orphanet:307055 | Rare parkinsonian syndrome due to genetic neurodegenerative disease | -| Orphanet:306679 | Rare parkinsonian syndrome due to intoxication | -| Orphanet:306666 | Rare parkinsonian syndrome due to neurodegenerative disease | -| Orphanet:306768 | Rare paroxysmal movement disorder | -| Orphanet:98496 | Rare peripheral neuropathy | -| Orphanet:178040 | Rare peripheral precocious puberty | -| Orphanet:650187 | Rare peripheral precocious puberty in female | -| Orphanet:168778 | Rare pervasive developmental disorder | -| Orphanet:79390 | Rare photodermatosis | -| Orphanet:95708 | Rare precocious puberty | -| Orphanet:435561 | Rare precocious puberty in female | -| Orphanet:181415 | Rare primary hyperaldosteronism | -| Orphanet:101944 | Rare pulmonary disease | -| Orphanet:71198 | Rare pulmonary hypertension | -| Orphanet:98618 | Rare refraction anomaly | -| Orphanet:93626 | Rare renal disease | -| Orphanet:93603 | Rare renal tubular disease | -| Orphanet:93619 | Rare renal tumor | -| Orphanet:97955 | Rare respiratory disease | -| Orphanet:98060 | Rare respiratory tumor | -| Orphanet:519317 | Rare retinal vasculopathy | -| Orphanet:182231 | Rare rheumatologic disease | -| Orphanet:648559 | Rare scleritis | -| Orphanet:89826 | Rare skin disease | -| Orphanet:79386 | Rare skin tumor or hamartoma | -| Orphanet:68354 | Rare sleep disorder | -| Orphanet:71209 | Rare soft tissue tumor | -| Orphanet:97965 | Rare surgical cardiac disease | -| Orphanet:97962 | Rare surgical thoracic disease | -| Orphanet:231637 | Rare surgically correctable form of primary aldosteronism | -| Orphanet:156532 | Rare syndrome with cardiac malformations | -| Orphanet:181437 | Rare syndromic dyslipidemia | -| Orphanet:102369 | Rare syndromic intellectual disability | -| Orphanet:611314 | Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome | -| Orphanet:98023 | Rare systemic or rheumatologic disease | -| Orphanet:280342 | Rare systemic or rheumatological disease of childhood | -| Orphanet:52662 | Rare teratologic disease | -| Orphanet:182054 | Rare thrombotic disease of hematologic origin | -| Orphanet:248358 | Rare thrombotic disorder due to a coagulation factors defect | -| Orphanet:248361 | Rare thrombotic disorder due to a constitutional coagulation factors defect | -| Orphanet:248401 | Rare thrombotic disorder due to a constitutional platelet anomaly | -| Orphanet:248368 | Rare thrombotic disorder due to a platelet anomaly | -| Orphanet:248365 | Rare thrombotic disorder due to an acquired coagulation factors defect | -| Orphanet:248404 | Rare thrombotic disorder due to an acquired platelet anomaly | -| Orphanet:100088 | Rare thyroid carcinoma | -| Orphanet:101955 | Rare thyroid disease | -| Orphanet:100087 | Rare thyroid tumor | -| Orphanet:306712 | Rare tremor disorder | -| Orphanet:519353 | Rare trochlear nerve disorder | -| Orphanet:98057 | Rare tumor | -| Orphanet:251558 | Rare tumor of neuroepithelial tissue | -| Orphanet:180824 | Rare tumor of pancreas | -| Orphanet:276142 | Rare tumor of salivary glands | -| Orphanet:98058 | Rare urinary tract tumor | -| Orphanet:101433 | Rare urogenital disease | -| Orphanet:182114 | Rare urogenital tumor | -| Orphanet:79384 | Rare urticaria | -| Orphanet:180220 | Rare uterine adnexal tumor | -| Orphanet:213564 | Rare uterine cancer | -| Orphanet:68362 | Rare vascular disease | -| Orphanet:101938 | Rare vascular liver disease | -| Orphanet:458844 | Rare vascular malformation of major vessels | -| Orphanet:211237 | Rare vascular tumor | -| Orphanet:211252 | Rare venous malformation | -| Orphanet:163585 | Rare viral disease | -| Orphanet:289635 | Rare virus associated tumor | -| Orphanet:180312 | Rare vulvovaginal tumor | -| Orphanet:1929 | Rasmussen subacute encephalitis | -| Orphanet:31205 | Rat-bite fever | -| Orphanet:99852 | Ravine syndrome | -| Orphanet:29207 | Reactive arthritis | -| Orphanet:166433 | Reading seizures | -| Orphanet:461 | Recessive X-linked ichthyosis | -| Orphanet:79409 | Recessive dystrophic epidermolysis bullosa inversa | -| Orphanet:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | -| Orphanet:94125 | Recessive mitochondrial ataxia syndrome | -| Orphanet:96167 | Recombinant 8 syndrome | -| Orphanet:171220 | Rectal duplication | -| Orphanet:169467 | Recurrent Neisseria infections due to factor D deficiency | -| Orphanet:499103 | Recurrent idiopathic neuroretinitis | -| Orphanet:169142 | Recurrent infection due to specific granule deficiency | -| Orphanet:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | -| Orphanet:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | -| Orphanet:60032 | Recurrent respiratory papillomatosis | -| Orphanet:97239 | Reducing body myopathy | -| Orphanet:310 | Reflex epilepsy | -| Orphanet:98826 | Refractory anemia | -| Orphanet:86839 | Refractory anemia with excess blasts | -| Orphanet:168960 | Refractory anemia with excess blasts in transformation | -| Orphanet:100019 | Refractory anemia with excess blasts type 1 | -| Orphanet:100020 | Refractory anemia with excess blasts type 2 | -| Orphanet:398063 | Refractory celiac disease | -| Orphanet:773 | Refsum disease | -| Orphanet:83450 | Regional odontodysplasia | -| Orphanet:231416 | Regional variant of Guillain-Barré syndrome | -| Orphanet:448267 | Regressive spondylometaphyseal dysplasia | -| Orphanet:98961 | Reis-Bücklers corneal dystrophy | -| Orphanet:99991 | Relapsing epidemic typhus | -| Orphanet:91547 | Relapsing fever | -| Orphanet:728 | Relapsing polychondritis | -| Orphanet:411709 | Renal agenesis | -| Orphanet:1848 | Renal agenesis, bilateral | -| Orphanet:93100 | Renal agenesis, unilateral | -| Orphanet:2838 | Renal caliceal diverticuli-deafness syndrome | -| Orphanet:156162 | Renal ciliopathy | -| Orphanet:1475 | Renal coloboma syndrome | -| Orphanet:98646 | Renal disease with cataract | -| Orphanet:93108 | Renal dysplasia | -| Orphanet:93173 | Renal dysplasia, bilateral | -| Orphanet:93172 | Renal dysplasia, unilateral | -| Orphanet:93101 | Renal hypoplasia | -| Orphanet:97362 | Renal hypoplasia, bilateral | -| Orphanet:97361 | Renal hypoplasia, unilateral | -| Orphanet:319319 | Renal medullary carcinoma | -| Orphanet:71273 | Renal nutcracker syndrome | -| Orphanet:93545 | Renal or urinary tract malformation | -| Orphanet:171871 | Renal pseudohypoaldosteronism type 1 | -| Orphanet:3033 | Renal tubular dysgenesis | -| Orphanet:97367 | Renal tubular dysgenesis due to twin-twin transfusion | -| Orphanet:97369 | Renal tubular dysgenesis of genetic origin | -| Orphanet:254902 | Renal tubulopathy-encephalopathy-liver failure syndrome | -| Orphanet:294415 | Renal-hepatic-pancreatic dysplasia | -| Orphanet:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | -| Orphanet:3242 | Renpenning syndrome | -| Orphanet:566231 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha | -| Orphanet:566243 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | -| Orphanet:99832 | Resistance to thyrotropin-releasing hormone syndrome | -| Orphanet:79127 | Respiratory bronchiolitis-interstitial lung disease syndrome | -| Orphanet:182111 | Respiratory malformation | -| Orphanet:98045 | Respiratory or mediastinal malformation | -| Orphanet:97957 | Respiratory or thoracic malformation | -| Orphanet:217632 | Restrictive cardiomyopathy | -| Orphanet:1662 | Restrictive dermopathy | -| Orphanet:645334 | Retained medullary cord | -| Orphanet:33355 | Reticular dysgenesis | -| Orphanet:99002 | Reticular dystrophy of the retinal pigment epithelium | -| Orphanet:100000 | Reticular perineurioma | -| Orphanet:178307 | Reticulate acropigmentation of Kitamura | -| Orphanet:458763 | Retiform hemangioendothelioma | -| Orphanet:75326 | Retinal arterial tortuosity | -| Orphanet:71213 | Retinal capillary malformation | -| Orphanet:156165 | Retinal ciliopathy | -| Orphanet:156183 | Retinal ciliopathy due to mutation in Bardet-Biedl gene | -| Orphanet:156177 | Retinal ciliopathy due to mutation in Usher gene | -| Orphanet:156180 | Retinal ciliopathy due to mutation in nephronophthisis gene | -| Orphanet:156171 | Retinal ciliopathy due to mutation in the RPGR gene | -| Orphanet:156174 | Retinal ciliopathy due to mutation in the RPGRIP gene | -| Orphanet:156168 | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | -| Orphanet:1574 | Retinal degeneration-nanophthalmos-glaucoma syndrome | -| Orphanet:397758 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | -| Orphanet:313800 | Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome | -| Orphanet:3018 | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome | -| Orphanet:319640 | Retinal macular dystrophy type 2 | -| Orphanet:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | -| Orphanet:791 | Retinitis pigmentosa | -| Orphanet:494439 | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | -| Orphanet:3085 | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome | -| Orphanet:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | -| Orphanet:52427 | Retinitis punctata albescens | -| Orphanet:790 | Retinoblastoma | -| Orphanet:90050 | Retinopathy of prematurity | -| Orphanet:778 | Rett syndrome | -| Orphanet:284388 | Reversible cerebral vasoconstriction syndrome | -| Orphanet:3088 | Revesz syndrome | -| Orphanet:3096 | Reye syndrome | -| Orphanet:779 | Reynolds syndrome | -| Orphanet:71275 | Rh deficiency syndrome | -| Orphanet:69077 | Rhabdoid tumor | -| Orphanet:231108 | Rhabdoid tumor predisposition syndrome | -| Orphanet:780 | Rhabdomyosarcoma | -| Orphanet:213802 | Rhabdomyosarcoma of the cervix uteri | -| Orphanet:213615 | Rhabdomyosarcoma of the corpus uteri | -| Orphanet:3099 | Rheumatic fever | -| Orphanet:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | -| Orphanet:85435 | Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis | -| Orphanet:177 | Rhizomelic chondrodysplasia punctata | -| Orphanet:309789 | Rhizomelic chondrodysplasia punctata type 1 | -| Orphanet:309796 | Rhizomelic chondrodysplasia punctata type 2 | -| Orphanet:309803 | Rhizomelic chondrodysplasia punctata type 3 | -| Orphanet:468717 | Rhizomelic chondrodysplasia punctata type 5 | -| Orphanet:2831 | Rhizomelic dysplasia, Patterson-Lowry type | -| Orphanet:3098 | Rhizomelic syndrome, Urbach type | -| Orphanet:59315 | Rhombencephalosynapsis | -| Orphanet:97229 | Riboflavin transporter deficiency | -| Orphanet:440706 | Ribose-5-P isomerase deficiency | -| Orphanet:1399 | Richards-Rundle syndrome | -| Orphanet:3102 | Richieri Costa-Pereira syndrome | -| Orphanet:3101 | Richieri Costa-da Silva syndrome | -| Orphanet:570470 | Ricin poisoning | -| Orphanet:102021 | Rickettsial disease | -| Orphanet:83312 | Rickettsialpox | -| Orphanet:91483 | Rieger anomaly | -| Orphanet:319251 | Rift valley fever | -| Orphanet:99081 | Right aortic arch | -| Orphanet:99119 | Right inferior vena cava connecting to left-sided atrium | -| Orphanet:97548 | Right sided atrial isomerism | -| Orphanet:99110 | Right superior vena cava connecting to left-sided atrium | -| Orphanet:97244 | Rigid spine syndrome | -| Orphanet:363203 | Ring chromosome | -| Orphanet:1437 | Ring chromosome 1 syndrome | -| Orphanet:1438 | Ring chromosome 10 syndrome | -| Orphanet:96175 | Ring chromosome 11 syndrome | -| Orphanet:1439 | Ring chromosome 12 syndrome | -| Orphanet:96176 | Ring chromosome 13 syndrome | -| Orphanet:1440 | Ring chromosome 14 syndrome | -| Orphanet:96177 | Ring chromosome 15 syndrome | -| Orphanet:96178 | Ring chromosome 16 syndrome | -| Orphanet:1441 | Ring chromosome 17 syndrome | -| Orphanet:1442 | Ring chromosome 18 syndrome | -| Orphanet:1443 | Ring chromosome 19 syndrome | -| Orphanet:96171 | Ring chromosome 2 syndrome | -| Orphanet:1444 | Ring chromosome 20 syndrome | -| Orphanet:1445 | Ring chromosome 21 syndrome | -| Orphanet:1446 | Ring chromosome 22 syndrome | -| Orphanet:96172 | Ring chromosome 3 syndrome | -| Orphanet:1447 | Ring chromosome 4 syndrome | -| Orphanet:251043 | Ring chromosome 5 syndrome | -| Orphanet:1448 | Ring chromosome 6 syndrome | -| Orphanet:1449 | Ring chromosome 7 syndrome | -| Orphanet:1450 | Ring chromosome 8 syndrome | -| Orphanet:96173 | Ring chromosome 9 syndrome | -| Orphanet:261529 | Ring chromosome Y syndrome | -| Orphanet:91481 | Ring dermoid of cornea | -| Orphanet:169 | Ringed hair disease | -| Orphanet:97238 | Rippling muscle disease | -| Orphanet:206575 | Rippling muscle disease with myasthenia gravis | -| Orphanet:3103 | Roberts syndrome | -| Orphanet:3104 | Robin sequence-oligodactyly syndrome | -| Orphanet:97360 | Robinow syndrome | -| Orphanet:529 | Roch-Leri mesosomatous lipomatosis | -| Orphanet:83311 | Rocky Mountain spotted fever | -| Orphanet:353298 | Roifman syndrome | -| Orphanet:1945 | Rolandic epilepsy | -| Orphanet:163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | -| Orphanet:163721 | Rolandic epilepsy-speech dyspraxia syndrome | -| Orphanet:101016 | Romano-Ward syndrome | -| Orphanet:3110 | Rombo syndrome | -| Orphanet:158014 | Rosaï-Dorfman disease | -| Orphanet:251975 | Rosette-forming glioneuronal tumor | -| Orphanet:2909 | Rothmund-Thomson syndrome | -| Orphanet:221008 | Rothmund-Thomson syndrome type 1 | -| Orphanet:221016 | Rothmund-Thomson syndrome type 2 | -| Orphanet:3111 | Rotor syndrome | -| Orphanet:3115 | Roussy-Lévy syndrome | -| Orphanet:83616 | Rubella panencephalitis | -| Orphanet:783 | Rubinstein-Taybi syndrome | -| Orphanet:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | -| Orphanet:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | -| Orphanet:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | -| Orphanet:3121 | Ruvalcaba syndrome | -| Orphanet:88618 | S-adenosylhomocysteine hydrolase deficiency | -| Orphanet:619367 | SAMD9L-associated autoinflammatory syndrome | -| Orphanet:793 | SAPHO syndrome | -| Orphanet:576278 | SATB2-associated syndrome | -| Orphanet:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | -| Orphanet:576283 | SATB2-associated syndrome due to a pathogenic variant | -| Orphanet:622934 | SBDS-related severe neonatal spondylometaphyseal dysplasia | -| Orphanet:370052 | SCALP syndrome | -| Orphanet:3134 | SCARF syndrome | -| Orphanet:139466 | SERKAL syndrome | -| Orphanet:597743 | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome | -| Orphanet:3163 | SHORT syndrome | -| Orphanet:314795 | SHOX-related short stature | -| Orphanet:398079 | SIM1-related Prader-Willi-like syndrome | -| Orphanet:500166 | SIN3A-related intellectual disability syndrome due to a point mutation | -| Orphanet:488437 | SIX2-related frontonasal dysplasia | -| Orphanet:633024 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | -| Orphanet:633021 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | -| Orphanet:633014 | SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome | -| Orphanet:238459 | SLC35A1-CDG | -| Orphanet:356961 | SLC35A2-CDG | -| Orphanet:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | -| Orphanet:468699 | SLC39A8-CDG | -| Orphanet:647834 | SLC40A1-related hemochromatosis | -| Orphanet:637013 | SMARCA2-related blepharophimosis-intellectual disability syndrome | -| Orphanet:466962 | SMARCA4-deficient sarcoma of thorax | -| Orphanet:1519 | SPECC1L-related hypertelorism syndrome | -| Orphanet:93357 | SPONASTRIME dysplasia | -| Orphanet:324737 | SRD5A3-CDG | -| Orphanet:370927 | SSR4-CDG | -| Orphanet:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | -| Orphanet:438159 | STAT3-related early-onset multisystem autoimmune disease | -| Orphanet:425120 | STING-associated vasculopathy with onset in infancy | -| Orphanet:370921 | STT3A-CDG | -| Orphanet:370924 | STT3B-CDG | -| Orphanet:599373 | STXBP1-related encephalopathy | -| Orphanet:57145 | SUNCT syndrome | -| Orphanet:391351 | SURF1-related Charcot-Marie-Tooth disease type 4 | -| Orphanet:544254 | SYNGAP1-related developmental and epileptic encephalopathy | -| Orphanet:3124 | Saccharopinuria | -| Orphanet:645354 | Saccular limited dorsal myeloschisis | -| Orphanet:645319 | Saccular spinal dysraphism with a stalk to the dome | -| Orphanet:397927 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | -| Orphanet:494421 | Sacrococcygeal teratoma | -| Orphanet:794 | Saethre-Chotzen syndrome | -| Orphanet:300493 | Sagliker syndrome | -| Orphanet:140969 | Saldino-Mainzer syndrome | -| Orphanet:213557 | Salivary gland type cancer of the breast | -| Orphanet:309334 | Salla disease | -| Orphanet:796 | Sandhoff disease | -| Orphanet:309169 | Sandhoff disease, adult form | -| Orphanet:309155 | Sandhoff disease, infantile form | -| Orphanet:309162 | Sandhoff disease, juvenile form | -| Orphanet:71272 | Sandifer syndrome | -| Orphanet:79269 | Sanfilippo syndrome type A | -| Orphanet:79270 | Sanfilippo syndrome type B | -| Orphanet:79271 | Sanfilippo syndrome type C | -| Orphanet:79272 | Sanfilippo syndrome type D | -| Orphanet:2323 | Sanjad-Sakati syndrome | -| Orphanet:54368 | Sarcocystosis | -| Orphanet:797 | Sarcoidosis | -| Orphanet:213797 | Sarcoma of cervix uteri | -| Orphanet:213620 | Sarcoma of the corpus uteri | -| Orphanet:3129 | Sarcosinemia | -| Orphanet:3130 | Satoyoshi syndrome | -| Orphanet:3132 | Say-Barber-Miller syndrome | -| Orphanet:1003 | Scalp defects-postaxial polydactyly syndrome | -| Orphanet:2036 | Scalp-ear-nipple syndrome | -| Orphanet:431255 | Scapuloperoneal spinal muscular atrophy | -| Orphanet:449280 | Scedosporiosis | -| Orphanet:93474 | Scheie syndrome | -| Orphanet:2353 | Schilbach-Rott syndrome | -| Orphanet:59298 | Schilder disease | -| Orphanet:1830 | Schimke immuno-osseous dysplasia | -| Orphanet:798 | Schinzel-Giedion syndrome | -| Orphanet:63862 | Schisis association | -| Orphanet:1247 | Schistosomiasis | -| Orphanet:799 | Schizencephaly | -| Orphanet:3144 | Schneckenbecken dysplasia | -| Orphanet:37748 | Schnitzler syndrome | -| Orphanet:98967 | Schnyder corneal dystrophy | -| Orphanet:800 | Schwartz-Jampel syndrome | -| Orphanet:50944 | Schöpf-Schulz-Passarge syndrome | -| Orphanet:185 | Scimitar syndrome | -| Orphanet:352763 | Scleredema | -| Orphanet:801 | Scleroderma | -| Orphanet:167635 | Scleromyxedema | -| Orphanet:90400 | Scleromyxedema without monoclonal gammopathy | -| Orphanet:100001 | Sclerosing perineurioma | -| Orphanet:3152 | Sclerosteosis | -| Orphanet:466677 | Scorpion envenomation | -| Orphanet:806 | Scott syndrome | -| Orphanet:83317 | Scrub typhus | -| Orphanet:158029 | Sea-blue histiocytosis | -| Orphanet:79372 | Sebaceous gland anomaly | -| Orphanet:841 | Sebocystomatosis | -| Orphanet:168606 | Seborrhea-like dermatitis with psoriasiform elements | -| Orphanet:808 | Seckel syndrome | -| Orphanet:141022 | Second branchial cleft anomaly | -| Orphanet:399169 | Secondary avascular necrosis | -| Orphanet:650082 | Secondary central precocious puberty in female | -| Orphanet:650092 | Secondary central precocious puberty in male | -| Orphanet:519331 | Secondary early-onset glaucoma | -| Orphanet:522580 | Secondary early-onset glaucoma of genetic origin | -| Orphanet:98571 | Secondary ectropion | -| Orphanet:529864 | Secondary erythromelalgia | -| Orphanet:158041 | Secondary hemophagocytic lymphohistiocytosis | -| Orphanet:314962 | Secondary hypereosinophilic syndrome | -| Orphanet:140286 | Secondary hypoparathyroidism due to impaired parathormon secretion | -| Orphanet:90363 | Secondary intestinal lymphangiectasia | -| Orphanet:398091 | Secondary neonatal autoimmune disease | -| Orphanet:399180 | Secondary non-traumatic avascular necrosis | -| Orphanet:439746 | Secondary polyarteritis nodosa | -| Orphanet:98428 | Secondary polycythemia | -| Orphanet:420259 | Secondary pulmonary alveolar proteinosis | -| Orphanet:99930 | Secondary pulmonary hemosiderosis | -| Orphanet:447774 | Secondary sclerosing cholangitis | -| Orphanet:95427 | Secondary short bowel syndrome | -| Orphanet:99857 | Secondary syringomyelia | -| Orphanet:445197 | Secondary vasculitis | -| Orphanet:645350 | Segmental arterial mediolysis | -| Orphanet:67039 | Segmental odontomaxillary dysplasia | -| Orphanet:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | -| Orphanet:314662 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | -| Orphanet:79156 | Seizures-intellectual disability due to hydroxylysinuria syndrome | -| Orphanet:466926 | Seizures-scoliosis-macrocephaly syndrome | -| Orphanet:331235 | Selective IgM deficiency | -| Orphanet:617301 | Selective intrauterine growth restriction | -| Orphanet:90397 | Self-healing papular mucinosis | -| Orphanet:281122 | Self-improving collodion baby | -| Orphanet:79411 | Self-improving dystrophic epidermolysis bullosa | -| Orphanet:100069 | Semantic dementia | -| Orphanet:420402 | Semicircular canal dehiscence syndrome | -| Orphanet:220386 | Semilobar holoprosencephaly | -| Orphanet:84081 | Senior-Boichis syndrome | -| Orphanet:3156 | Senior-Loken syndrome | -| Orphanet:217622 | Sensorineural deafness with dilated cardiomyopathy | -| Orphanet:66633 | Sensorineural hearing loss-early graying-essential tremor syndrome | -| Orphanet:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | -| Orphanet:180154 | Septate vagina | -| Orphanet:3157 | Septo-optic dysplasia spectrum | -| Orphanet:280195 | Septopreoptic holoprosencephaly | -| Orphanet:583595 | Serine biosynthesis pathway deficiency, infantile/juvenile form | -| Orphanet:563676 | Seromucinous cystadenoma of childhood | -| Orphanet:563589 | Seronegative autoimmune hepatitis | -| Orphanet:43116 | Serotonin syndrome | -| Orphanet:506090 | Serotonin-producing neuroendocrine tumor of pancreas | -| Orphanet:213726 | Serous carcinoma of the corpus uteri | -| Orphanet:424073 | Serous cystadenocarcinoma of pancreas | -| Orphanet:563666 | Serous cystadenoma of childhood | -| Orphanet:35686 | Serpiginous choroiditis | -| Orphanet:250805 | Serpinopathy | -| Orphanet:250811 | Serpinopathy with loss of serpin function | -| Orphanet:250808 | Serpinopathy with toxic serpin polymerization | -| Orphanet:157798 | Serrated polyposis syndrome | -| Orphanet:314911 | Severe Canavan disease | -| Orphanet:3078 | Severe X-linked intellectual disability, Gustavson type | -| Orphanet:238329 | Severe X-linked mitochondrial encephalomyopathy | -| Orphanet:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | -| Orphanet:140896 | Severe acute respiratory syndrome | -| Orphanet:438207 | Severe autosomal recessive macrothrombocytopenia | -| Orphanet:357237 | Severe combined immunodeficiency due to CARD11 deficiency | -| Orphanet:228003 | Severe combined immunodeficiency due to CORO1A deficiency | -| Orphanet:420573 | Severe combined immunodeficiency due to CTPS1 deficiency | -| Orphanet:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | -| Orphanet:317425 | Severe combined immunodeficiency due to DNA-PKcs deficiency | -| Orphanet:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | -| Orphanet:397787 | Severe combined immunodeficiency due to IKK2 deficiency | -| Orphanet:504523 | Severe combined immunodeficiency due to LAT deficiency | -| Orphanet:280142 | Severe combined immunodeficiency due to LCK deficiency | -| Orphanet:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | -| Orphanet:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | -| Orphanet:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | -| Orphanet:171430 | Severe congenital nemaline myopathy | -| Orphanet:369992 | Severe dermatitis-multiple allergies-metabolic wasting syndrome | -| Orphanet:35062 | Severe disseminated cytomegalovirus infection in immunocompetent patients | -| Orphanet:364055 | Severe early-childhood-onset retinal dystrophy | -| Orphanet:90118 | Severe early-onset axonal neuropathy due to MFN2 deficiency | -| Orphanet:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | -| Orphanet:440427 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | -| Orphanet:79404 | Severe generalized junctional epidermolysis bullosa | -| Orphanet:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | -| Orphanet:169802 | Severe hemophilia A | -| Orphanet:169793 | Severe hemophilia B | -| Orphanet:745 | Severe hereditary thrombophilia due to congenital protein C deficiency | -| Orphanet:743 | Severe hereditary thrombophilia due to congenital protein S deficiency | -| Orphanet:467176 | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome | -| Orphanet:94075 | Severe immune-mediated enteropathy | -| Orphanet:280763 | Severe intellectual disability and progressive spastic paraplegia | -| Orphanet:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | -| Orphanet:94066 | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia | -| Orphanet:436141 | Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome | -| Orphanet:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | -| Orphanet:397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | -| Orphanet:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | -| Orphanet:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | -| Orphanet:324307 | Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome | -| Orphanet:1236 | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome | -| Orphanet:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | -| Orphanet:527450 | Severe myopia-generalized joint laxity-short stature syndrome | -| Orphanet:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | -| Orphanet:397593 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | -| Orphanet:209370 | Severe neonatal-onset encephalopathy with microcephaly | -| Orphanet:363400 | Severe neurodegenerative syndrome with lipodystrophy | -| Orphanet:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | -| Orphanet:2715 | Severe oculo-renal-cerebellar syndrome | -| Orphanet:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | -| Orphanet:468726 | Severe primary trimethylaminuria | -| Orphanet:325546 | Sex chromosome difference of sex development | -| Orphanet:363489 | Sex cord-stromal tumor of testis | -| Orphanet:98155 | Sex-chromosome anomaly | -| Orphanet:98156 | Sex-chromosome number anomaly | -| Orphanet:98157 | Sex-chromosome structural anomaly | -| Orphanet:91355 | Sheehan syndrome | -| Orphanet:1147 | Sheldon-Hall syndrome | -| Orphanet:90038 | Shiga toxin-associated hemolytic uremic syndrome | -| Orphanet:810 | Shigellosis | -| Orphanet:99063 | Shone complex | -| Orphanet:26792 | Short chain acyl-CoA dehydrogenase deficiency | -| Orphanet:66518 | Short fifth metacarpals-insulin resistance syndrome | -| Orphanet:1505 | Short rib-polydactyly syndrome | -| Orphanet:498497 | Short rib-polydactyly syndrome type 5 | -| Orphanet:93268 | Short rib-polydactyly syndrome, Beemer-Langer type | -| Orphanet:93269 | Short rib-polydactyly syndrome, Majewski type | -| Orphanet:93270 | Short rib-polydactyly syndrome, Saldino-Noonan type | -| Orphanet:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | -| Orphanet:314811 | Short stature due to GHSR deficiency | -| Orphanet:629 | Short stature due to growth hormone qualitative anomaly | -| Orphanet:632 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | -| Orphanet:314802 | Short stature due to partial GHR deficiency | -| Orphanet:140941 | Short stature due to primary acid-labile subunit deficiency | -| Orphanet:2867 | Short stature, Brussels type | -| Orphanet:435804 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | -| Orphanet:397623 | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | -| Orphanet:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | -| Orphanet:2994 | Short stature-craniofacial anomalies-genital hypoplasia syndrome | -| Orphanet:2866 | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome | -| Orphanet:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | -| Orphanet:314394 | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | -| Orphanet:391677 | Short stature-optic atrophy-Pelger-Huët anomaly syndrome | -| Orphanet:85442 | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | -| Orphanet:589442 | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome | -| Orphanet:2868 | Short stature-valvular heart disease-characteristic facies syndrome | -| Orphanet:2865 | Short stature-webbed neck-heart disease syndrome | -| Orphanet:2863 | Short stature-wormian bones-dextrocardia syndrome | -| Orphanet:2832 | Short tarsus-absence of lower eyelashes syndrome | -| Orphanet:357175 | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome | -| Orphanet:935 | Short-limb skeletal dysplasia with severe combined immunodeficiency | -| Orphanet:2462 | Shprintzen-Goldberg syndrome | -| Orphanet:811 | Shwachman-Diamond syndrome | -| Orphanet:309294 | Sialidosis | -| Orphanet:812 | Sialidosis type 1 | -| Orphanet:87876 | Sialidosis type 2 | -| Orphanet:3166 | Sialuria | -| Orphanet:232 | Sickle cell anemia | -| Orphanet:251359 | Sickle cell-beta-thalassemia disease syndrome | -| Orphanet:251365 | Sickle cell-hemoglobin C disease syndrome | -| Orphanet:251370 | Sickle cell-hemoglobin D disease syndrome | -| Orphanet:251375 | Sickle cell-hemoglobin E disease syndrome | -| Orphanet:1047 | Sideroblastic anemia | -| Orphanet:3167 | Siegler-Brewer-Carey syndrome | -| Orphanet:314786 | Silent pituitary adenoma | -| Orphanet:71276 | Silent sinus syndrome | -| Orphanet:3168 | Sillence syndrome | -| Orphanet:813 | Silver-Russell syndrome | -| Orphanet:231144 | Silver-Russell syndrome due to 11p15 microduplication | -| Orphanet:231137 | Silver-Russell syndrome due to 7p11.2p13 microduplication | -| Orphanet:397590 | Silver-Russell syndrome due to a point mutation | -| Orphanet:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | -| Orphanet:231147 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 | -| Orphanet:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | -| Orphanet:91139 | Simple cryoglobulinemia | -| Orphanet:211243 | Simple vascular malformation | -| Orphanet:373 | Simpson-Golabi-Behmel syndrome | -| Orphanet:97337 | Sinding-Larsen-Johansson disease | -| Orphanet:439755 | Single-organ polyarteritis nodosa | -| Orphanet:85191 | Singleton-Merten dysplasia | -| Orphanet:324321 | Sinoatrial node dysfunction and deafness | -| Orphanet:3169 | Sirenomelia | -| Orphanet:2882 | Sitosterolemia | -| Orphanet:157769 | Situs ambiguus | -| Orphanet:101063 | Situs inversus totalis | -| Orphanet:816 | Sjögren-Larsson syndrome | -| Orphanet:319 | Skeletal Ewing sarcoma | -| Orphanet:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | -| Orphanet:1858 | Skeletal dysplasia-epilepsy-short stature syndrome | -| Orphanet:98472 | Skeletal muscle disease | -| Orphanet:293165 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | -| Orphanet:79379 | Skin vascular disease | -| Orphanet:93440 | Slender bone dysplasia | -| Orphanet:1201 | Small bowel atresia | -| Orphanet:284400 | Small cell carcinoma of the bladder | -| Orphanet:370396 | Small cell carcinoma of the ovary | -| Orphanet:70573 | Small cell lung cancer | -| Orphanet:818 | Smith-Lemli-Opitz syndrome | -| Orphanet:819 | Smith-Magenis syndrome | -| Orphanet:178355 | Smith-McCort dysplasia | -| Orphanet:158775 | Smoldering systemic mastocytosis | -| Orphanet:449285 | Snakebite envenomation | -| Orphanet:820 | Sneddon syndrome | -| Orphanet:91496 | Snowflake vitreoretinal degeneration | -| Orphanet:306577 | Sodium channelopathy-related small fiber neuropathy | -| Orphanet:3394 | Soft tissue sarcoma | -| Orphanet:97230 | Solar urticaria | -| Orphanet:424065 | Solid pseudopapillary carcinoma of pancreas | -| Orphanet:209019 | Solid tumor associated with an acquired peripheral neuropathy | -| Orphanet:83468 | Solitary bone cyst | -| Orphanet:2126 | Solitary fibrous tumor | -| Orphanet:100035 | Solitary necrotic nodule of the liver | -| Orphanet:209964 | Solitary rectal ulcer syndrome | -| Orphanet:314769 | Somatomammotropinoma | -| Orphanet:97283 | Somatostatinoma | -| Orphanet:96256 | Somatotropic adenoma | -| Orphanet:59181 | Sorsby pseudoinflammatory fundus dystrophy | -| Orphanet:821 | Sotos syndrome | -| Orphanet:98868 | Southeast Asian ovalocytosis | -| Orphanet:279882 | Spasmus nutans | -| Orphanet:316226 | Spastic ataxia | -| Orphanet:1182 | Spastic ataxia with congenital miosis | -| Orphanet:2572 | Spastic ataxia-corneal dystrophy syndrome | -| Orphanet:557056 | Spastic ataxia-dysarthria due to glutaminase deficiency | -| Orphanet:615938 | Spastic paraparesis-cataracts-speech delay syndrome | -| Orphanet:2815 | Spastic paraparesis-deafness syndrome | -| Orphanet:99015 | Spastic paraplegia type 2 | -| Orphanet:99013 | Spastic paraplegia type 7 | -| Orphanet:329475 | Spastic paraplegia-Paget disease of bone syndrome | -| Orphanet:2819 | Spastic paraplegia-facial-cutaneous lesions syndrome | -| Orphanet:2818 | Spastic paraplegia-glaucoma-intellectual disability syndrome | -| Orphanet:521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | -| Orphanet:2820 | Spastic paraplegia-nephritis-deafness syndrome | -| Orphanet:2821 | Spastic paraplegia-neuropathy-poikiloderma syndrome | -| Orphanet:431320 | Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder | -| Orphanet:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | -| Orphanet:2826 | Spastic paraplegia-precocious puberty syndrome | -| Orphanet:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | -| Orphanet:3011 | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome | -| Orphanet:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | -| Orphanet:169443 | Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells | -| Orphanet:211053 | Specific language disorder | -| Orphanet:211047 | Specific learning disability | -| Orphanet:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | -| Orphanet:99865 | Spermatocytic seminoma | -| Orphanet:268129 | Spheroid body myopathy | -| Orphanet:371442 | Sphingolipidosis with epilepsy | -| Orphanet:314432 | Spigelian hernia-cryptorchidism syndrome | -| Orphanet:823 | Spina bifida and other spinal dysraphisms | -| Orphanet:3176 | Spina bifida-hypospadias syndrome | -| Orphanet:53721 | Spinal arteriovenous metameric syndrome | -| Orphanet:1217 | Spinal atrophy-ophthalmoplegia-pyramidal syndrome | -| Orphanet:90058 | Spinal cord injury | -| Orphanet:645276 | Spinal cord lipoma | -| Orphanet:645188 | Spinal dermal sinus | -| Orphanet:268744 | Spinal dysraphism with a posterior meningocele | -| Orphanet:207012 | Spinal muscular atrophy associated with central nervous system anomaly | -| Orphanet:98920 | Spinal muscular atrophy with respiratory distress type 1 | -| Orphanet:404521 | Spinal muscular atrophy with respiratory distress type 2 | -| Orphanet:73245 | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome | -| Orphanet:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | -| Orphanet:210584 | Spindle cell hemangioma | -| Orphanet:98755 | Spinocerebellar ataxia type 1 | -| Orphanet:98761 | Spinocerebellar ataxia type 10 | -| Orphanet:98767 | Spinocerebellar ataxia type 11 | -| Orphanet:98762 | Spinocerebellar ataxia type 12 | -| Orphanet:98768 | Spinocerebellar ataxia type 13 | -| Orphanet:98763 | Spinocerebellar ataxia type 14 | -| Orphanet:98769 | Spinocerebellar ataxia type 15/16 | -| Orphanet:98759 | Spinocerebellar ataxia type 17 | -| Orphanet:98771 | Spinocerebellar ataxia type 18 | -| Orphanet:98772 | Spinocerebellar ataxia type 19/22 | -| Orphanet:98756 | Spinocerebellar ataxia type 2 | -| Orphanet:101110 | Spinocerebellar ataxia type 20 | -| Orphanet:98773 | Spinocerebellar ataxia type 21 | -| Orphanet:101108 | Spinocerebellar ataxia type 23 | -| Orphanet:101111 | Spinocerebellar ataxia type 25 | -| Orphanet:101112 | Spinocerebellar ataxia type 26 | -| Orphanet:98764 | Spinocerebellar ataxia type 27 | -| Orphanet:101109 | Spinocerebellar ataxia type 28 | -| Orphanet:208513 | Spinocerebellar ataxia type 29 | -| Orphanet:98757 | Spinocerebellar ataxia type 3 | -| Orphanet:211017 | Spinocerebellar ataxia type 30 | -| Orphanet:217012 | Spinocerebellar ataxia type 31 | -| Orphanet:276183 | Spinocerebellar ataxia type 32 | -| Orphanet:1955 | Spinocerebellar ataxia type 34 | -| Orphanet:276193 | Spinocerebellar ataxia type 35 | -| Orphanet:276198 | Spinocerebellar ataxia type 36 | -| Orphanet:363710 | Spinocerebellar ataxia type 37 | -| Orphanet:423296 | Spinocerebellar ataxia type 38 | -| Orphanet:98765 | Spinocerebellar ataxia type 4 | -| Orphanet:423275 | Spinocerebellar ataxia type 40 | -| Orphanet:458798 | Spinocerebellar ataxia type 41 | -| Orphanet:458803 | Spinocerebellar ataxia type 42 | -| Orphanet:497764 | Spinocerebellar ataxia type 43 | -| Orphanet:631095 | Spinocerebellar ataxia type 44 | -| Orphanet:589527 | Spinocerebellar ataxia type 45 | -| Orphanet:589522 | Spinocerebellar ataxia type 46 | -| Orphanet:631103 | Spinocerebellar ataxia type 48 | -| Orphanet:631106 | Spinocerebellar ataxia type 49 | -| Orphanet:98766 | Spinocerebellar ataxia type 5 | -| Orphanet:98758 | Spinocerebellar ataxia type 6 | -| Orphanet:94147 | Spinocerebellar ataxia type 7 | -| Orphanet:98760 | Spinocerebellar ataxia type 8 | -| Orphanet:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | -| Orphanet:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | -| Orphanet:254881 | Spinocerebellar ataxia with epilepsy | -| Orphanet:1185 | Spinocerebellar ataxia-dysmorphism syndrome | -| Orphanet:3177 | Spinocerebellar degeneration-corneal dystrophy syndrome | -| Orphanet:99903 | Spirillary rat-bite fever | -| Orphanet:300869 | Splenic diffuse red pulp small B-cell lymphoma | -| Orphanet:86854 | Splenic marginal zone lymphoma | -| Orphanet:2063 | Splenogonadal fusion-limb defects-micrognathia syndrome | -| Orphanet:573278 | Split cord malformation | -| Orphanet:1671 | Split cord malformation type I | -| Orphanet:573253 | Split cord malformation type II | -| Orphanet:71271 | Split hand-split foot-deafness syndrome | -| Orphanet:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | -| Orphanet:228387 | Spondylo-megaepiphyseal-metaphyseal dysplasia | -| Orphanet:85194 | Spondylo-ocular syndrome | -| Orphanet:3180 | Spondylocamptodactyly syndrome | -| Orphanet:3275 | Spondylocarpotarsal synostosis | -| Orphanet:536471 | Spondylodysplastic Ehlers-Danlos syndrome | -| Orphanet:93434 | Spondylodysplastic dysplasia | -| Orphanet:1855 | Spondyloenchondrodysplasia | -| Orphanet:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | -| Orphanet:642099 | Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type | -| Orphanet:642085 | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type | -| Orphanet:93360 | Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type | -| Orphanet:168454 | Spondyloepimetaphyseal dysplasia, Geneviève type | -| Orphanet:99642 | Spondyloepimetaphyseal dysplasia, Handigodu type | -| Orphanet:93351 | Spondyloepimetaphyseal dysplasia, Irapa type | -| Orphanet:370015 | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | -| Orphanet:93356 | Spondyloepimetaphyseal dysplasia, Missouri type | -| Orphanet:93282 | Spondyloepimetaphyseal dysplasia, PAPSS2 type | -| Orphanet:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | -| Orphanet:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | -| Orphanet:156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type | -| Orphanet:168451 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome | -| Orphanet:168443 | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome | -| Orphanet:93358 | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | -| Orphanet:94068 | Spondyloepiphyseal dysplasia congenita | -| Orphanet:93284 | Spondyloepiphyseal dysplasia tarda | -| Orphanet:163665 | Spondyloepiphyseal dysplasia tarda, Kohn type | -| Orphanet:137678 | Spondyloepiphyseal dysplasia with metatarsal shortening | -| Orphanet:93283 | Spondyloepiphyseal dysplasia, Kimberley type | -| Orphanet:163668 | Spondyloepiphyseal dysplasia, MacDermot type | -| Orphanet:263482 | Spondyloepiphyseal dysplasia, Maroteaux type | -| Orphanet:163662 | Spondyloepiphyseal dysplasia, Reardon type | -| Orphanet:459051 | Spondyloepiphyseal dysplasia, Stanescu type | -| Orphanet:163654 | Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome | -| Orphanet:163649 | Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome | -| Orphanet:611207 | Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome | -| Orphanet:254 | Spondylometaphyseal dysplasia | -| Orphanet:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | -| Orphanet:168555 | Spondylometaphyseal dysplasia, A4 type | -| Orphanet:168544 | Spondylometaphyseal dysplasia, Golden type | -| Orphanet:93314 | Spondylometaphyseal dysplasia, Kozlowski type | -| Orphanet:93316 | Spondylometaphyseal dysplasia, Schmidt type | -| Orphanet:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | -| Orphanet:168552 | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome | -| Orphanet:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | -| Orphanet:589435 | Spondylometaphyseal dysplasia-corneal dystrophy syndrome | -| Orphanet:1856 | Spondyloperipheral dysplasia-short ulna syndrome | -| Orphanet:645793 | Spontaneous intestinal perforation | -| Orphanet:443180 | Spontaneous intracranial hypotension | -| Orphanet:29822 | Spontaneous periodic hypothermia | -| Orphanet:204 | Sporadic Creutzfeldt-Jakob disease | -| Orphanet:247234 | Sporadic adult-onset ataxia of unknown etiology | -| Orphanet:586130 | Sporadic fatal insomnia | -| Orphanet:1665 | Sporadic fetal brain disruption sequence | -| Orphanet:576356 | Sporadic human prion disease | -| Orphanet:306776 | Sporadic hyperekplexia | -| Orphanet:225147 | Sporadic infantile bilateral striatal necrosis | -| Orphanet:276621 | Sporadic pheochromocytoma/secreting paraganglioma | -| Orphanet:443057 | Sporadic porphyria cutanea tarda | -| Orphanet:826 | Sporotrichosis | -| Orphanet:102022 | Spotted fever rickettsiosis | -| Orphanet:3181 | Sprengel deformity | -| Orphanet:424996 | Squamous cell carcinoma of gallbladder and extrahepatic biliary tract | -| Orphanet:424975 | Squamous cell carcinoma of liver and intrahepatic biliary tract | -| Orphanet:502369 | Squamous cell carcinoma of oral cavity and lip | -| Orphanet:424039 | Squamous cell carcinoma of pancreas | -| Orphanet:500481 | Squamous cell carcinoma of salivary glands | -| Orphanet:424019 | Squamous cell carcinoma of the anal canal | -| Orphanet:213767 | Squamous cell carcinoma of the cervix uteri | -| Orphanet:423994 | Squamous cell carcinoma of the colon | -| Orphanet:213716 | Squamous cell carcinoma of the corpus uteri | -| Orphanet:99977 | Squamous cell carcinoma of the esophagus | -| Orphanet:494547 | Squamous cell carcinoma of the hypopharynx | -| Orphanet:494550 | Squamous cell carcinoma of the larynx | -| Orphanet:502366 | Squamous cell carcinoma of the lip | -| Orphanet:500464 | Squamous cell carcinoma of the nasal cavity and paranasal sinuses | -| Orphanet:502363 | Squamous cell carcinoma of the oral cavity | -| Orphanet:500478 | Squamous cell carcinoma of the oropharynx | -| Orphanet:398058 | Squamous cell carcinoma of the penis | -| Orphanet:424002 | Squamous cell carcinoma of the rectum | -| Orphanet:423968 | Squamous cell carcinoma of the small intestine | -| Orphanet:418959 | Squamous cell carcinoma of the stomach | -| Orphanet:83484 | St. Louis encephalitis | -| Orphanet:140917 | Stapes ankylosis with broad thumbs and toes | -| Orphanet:36238 | Staphylococcal necrotizing pneumonia | -| Orphanet:36236 | Staphylococcal scalded skin syndrome | -| Orphanet:36235 | Staphylococcal scarlet fever | -| Orphanet:300579 | Staphylococcal toxemia | -| Orphanet:99919 | Staphylococcal toxic-shock syndrome | -| Orphanet:827 | Stargardt disease | -| Orphanet:166427 | Startle epilepsy | -| Orphanet:3184 | Steatocystoma multiplex-natal teeth syndrome | -| Orphanet:438117 | Steel syndrome | -| Orphanet:273 | Steinert myotonic dystrophy | -| Orphanet:210115 | Sterile multifocal osteomyelitis with periostitis and pustulosis | -| Orphanet:2017 | Sternal cleft | -| Orphanet:3196 | Steroid dehydrogenase deficiency-dental anomalies syndrome | -| Orphanet:83601 | Steroid-responsive encephalopathy associated with autoimmune thyroiditis | -| Orphanet:79195 | Sterol biosynthesis disorder | -| Orphanet:79226 | Sterol metabolism disorder | -| Orphanet:225710 | Sterol metabolism disorder with epilepsy | -| Orphanet:36426 | Stevens-Johnson syndrome | -| Orphanet:506784 | Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome | -| Orphanet:95455 | Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum | -| Orphanet:828 | Stickler syndrome | -| Orphanet:90653 | Stickler syndrome type 1 | -| Orphanet:90654 | Stickler syndrome type 2 | -| Orphanet:3198 | Stiff person spectrum disorder | -| Orphanet:2833 | Stiff skin syndrome | -| Orphanet:3199 | Stimmler syndrome | -| Orphanet:3204 | Stormorken-Sjaastad-Langslet syndrome | -| Orphanet:99064 | Straddling and/or overriding mitral valve | -| Orphanet:95461 | Straddling or overriding tricuspid valve | -| Orphanet:99905 | Streptobacillary rat-bite fever | -| Orphanet:99918 | Streptococcal toxic-shock syndrome | -| Orphanet:544493 | Streptococcus pneumoniae-associated hemolytic uremic syndrome | -| Orphanet:50942 | Striate palmoplantar keratoderma | -| Orphanet:98626 | Stromal corneal dystrophy | -| Orphanet:506307 | Stromme syndrome | -| Orphanet:76 | Strongyloidiasis | -| Orphanet:3205 | Sturge-Weber syndrome | -| Orphanet:3206 | Stüve-Wiedemann syndrome | -| Orphanet:101029 | Sub-cortical nodular heterotopia | -| Orphanet:163525 | Subacute cutaneous lupus erythematosus | -| Orphanet:206594 | Subacute inflammatory demyelinating polyneuropathy | -| Orphanet:2806 | Subacute sclerosing leukoencephalitis | -| Orphanet:99113 | Subaortic course of innominate vein | -| Orphanet:3191 | Subaortic stenosis-short stature syndrome | -| Orphanet:48377 | Subcorneal pustular dermatosis | -| Orphanet:99796 | Subcortical band heterotopia | -| Orphanet:86884 | Subcutaneous panniculitis-like T-cell lymphoma | -| Orphanet:79382 | Subcutaneous tissue disease | -| Orphanet:251618 | Subependymal giant cell astrocytoma | -| Orphanet:101030 | Subependymal nodular heterotopia | -| Orphanet:251639 | Subependymoma | -| Orphanet:98959 | Subepithelial mucinous corneal dystrophy | -| Orphanet:155878 | Submucosal cleft palate | -| Orphanet:3190 | Subpulmonary stenosis | -| Orphanet:22 | Succinic semialdehyde dehydrogenase deficiency | -| Orphanet:832 | Succinyl-CoA:3-oxoacid CoA transferase deficiency | -| Orphanet:168593 | Sudden infant death-dysgenesis of the testes syndrome | -| Orphanet:90059 | Sudden sensorineural hearing loss | -| Orphanet:498602 | Sugarman brachydactyly | -| Orphanet:93423 | Sulfation-related bone disorder | -| Orphanet:99732 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency | -| Orphanet:308386 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | -| Orphanet:308393 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | -| Orphanet:308400 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | -| Orphanet:3210 | Summitt syndrome | -| Orphanet:98625 | Superficial corneal dystrophy | -| Orphanet:455 | Superficial epidermolytic ichthyosis | -| Orphanet:199257 | Superficial fibromatosis | -| Orphanet:46485 | Superficial pemphigus | -| Orphanet:247245 | Superficial siderosis | -| Orphanet:88633 | Superior limbic keratoconjunctivitis | -| Orphanet:622099 | Superior mesenteric artery syndrome | -| Orphanet:180182 | Supernumerary breasts | -| Orphanet:141096 | Supernumerary nostril | -| Orphanet:98687 | Supranuclear eye movement disorder | -| Orphanet:466695 | Supratip dysplasia | -| Orphanet:3193 | Supravalvular aortic stenosis | -| Orphanet:3192 | Supravalvular pulmonary stenosis | -| Orphanet:838 | Susac syndrome | -| Orphanet:331226 | Susceptibility to infection due to TYK2 deficiency | -| Orphanet:447740 | Susceptibility to localized juvenile periodontitis | -| Orphanet:169085 | Susceptibility to respiratory infections associated with CD8alpha chain mutation | -| Orphanet:391311 | Susceptibility to viral and mycobacterial infections due to STAT1 deficiency | -| Orphanet:3243 | Sweet syndrome | -| Orphanet:306731 | Sydenham chorea | -| Orphanet:1570 | Symbrachydactyly of hands and feet | -| Orphanet:1314 | Symmetrical thalamic calcifications | -| Orphanet:79098 | Sympathetic ophthalmia | -| Orphanet:3246 | Symphalangism with multiple anomalies of hands and feet | -| Orphanet:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | -| Orphanet:465508 | Symptomatic form of HFE-related hemochromatosis | -| Orphanet:604680 | Symptomatic form of X-linked centronuclear myopathy in female carriers | -| Orphanet:449291 | Symptomatic form of fragile X syndrome in female carriers | -| Orphanet:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | -| Orphanet:98915 | Synaptic congenital myasthenic syndromes | -| Orphanet:93402 | Syndactyly type 1 | -| Orphanet:93403 | Syndactyly type 2 | -| Orphanet:93404 | Syndactyly type 3 | -| Orphanet:93405 | Syndactyly type 4 | -| Orphanet:93406 | Syndactyly type 5 | -| Orphanet:295012 | Syndactyly type 6 | -| Orphanet:2498 | Syndactyly type 8 | -| Orphanet:357332 | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome | -| Orphanet:294026 | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication | -| Orphanet:3259 | Syndactyly-polydactyly-ear lobe syndrome | -| Orphanet:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | -| Orphanet:596426 | Syndrome of reduced sensitivity to thyroid hormone | -| Orphanet:156237 | Syndrome or malformation associated with head and neck malformations | -| Orphanet:325109 | Syndrome with 46,XX difference of sex development | -| Orphanet:98087 | Syndrome with 46,XY difference of sex development | -| Orphanet:269546 | Syndrome with a Dandy-Walker malformation as a major feature | -| Orphanet:108991 | Syndrome with a central nervous system malformation as a major feature | -| Orphanet:269523 | Syndrome with a cerebellar malformation as a major feature | -| Orphanet:331217 | Syndrome with combined immunodeficiency | -| Orphanet:199639 | Syndrome with corpus callosum agenesis/dysgenesis as a major feature | -| Orphanet:325638 | Syndrome with difference of sex development of gynecological interest | -| Orphanet:181402 | Syndrome with hypoparathyroidism | -| Orphanet:294959 | Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy | -| Orphanet:109009 | Syndrome with limb malformations as a major feature | -| Orphanet:294955 | Syndrome with limb reduction defects | -| Orphanet:269528 | Syndrome with microcephaly as a major feature | -| Orphanet:275853 | Syndrome with pulmonary hypertension as a major feature | -| Orphanet:93459 | Syndrome with synostosis or other joint formation defect | -| Orphanet:434809 | Syndrome with woolly hair | -| Orphanet:85274 | Syndromic X-linked intellectual disability 7 | -| Orphanet:229720 | Syndromic agammaglobulinemia | -| Orphanet:98557 | Syndromic aniridia | -| Orphanet:98565 | Syndromic ankyloblepharon filiforme adnatum | -| Orphanet:498350 | Syndromic biliary atresia | -| Orphanet:180193 | Syndromic breast hypoplasia/aplasia | -| Orphanet:98641 | Syndromic cataract | -| Orphanet:519321 | Syndromic chorioretinal dystrophy | -| Orphanet:563708 | Syndromic congenital sodium diarrhea | -| Orphanet:477794 | Syndromic constitutional thrombocytopenia | -| Orphanet:98628 | Syndromic corneal dystrophy | -| Orphanet:139393 | Syndromic craniosynostosis | -| Orphanet:108979 | Syndromic diaphragmatic or abdominal wall malformation | -| Orphanet:180779 | Syndromic diaphragmatic or thoracic malformation | -| Orphanet:84064 | Syndromic diarrhea | -| Orphanet:98683 | Syndromic disorder with strabismus | -| Orphanet:519292 | Syndromic ectopia lentis | -| Orphanet:98574 | Syndromic epicanthus | -| Orphanet:108961 | Syndromic esophageal malformation | -| Orphanet:98566 | Syndromic eyelid coloboma | -| Orphanet:108965 | Syndromic gastroduodenal malformation | -| Orphanet:522548 | Syndromic genetic cataract | -| Orphanet:90642 | Syndromic genetic deafness | -| Orphanet:522520 | Syndromic genetic disorder with strabismus | -| Orphanet:522554 | Syndromic genetic ectopia lentis | -| Orphanet:522564 | Syndromic genetic keratoconus | -| Orphanet:79367 | Syndromic hair shaft abnormality | -| Orphanet:441434 | Syndromic hereditary optic neuropathy | -| Orphanet:98622 | Syndromic hyperopia | -| Orphanet:177107 | Syndromic hypothyroidism | -| Orphanet:519325 | Syndromic inherited retinal disorder | -| Orphanet:98623 | Syndromic keratoconus | -| Orphanet:519274 | Syndromic lacrimal system disorder | -| Orphanet:178364 | Syndromic microphthalmia type 5 | -| Orphanet:519294 | Syndromic microspherophakia | -| Orphanet:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | -| Orphanet:79370 | Syndromic nail anomaly | -| Orphanet:240371 | Syndromic obesity | -| Orphanet:284811 | Syndromic oculocutaneous albinism | -| Orphanet:137905 | Syndromic optic nerve hypoplasia | -| Orphanet:98606 | Syndromic orbital border hypoplasia | -| Orphanet:98576 | Syndromic outer canthal malposition | -| Orphanet:281090 | Syndromic recessive X-linked ichthyosis | -| Orphanet:108995 | Syndromic respiratory or mediastinal malformation | -| Orphanet:98661 | Syndromic rod-cone dystrophy | -| Orphanet:457223 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | -| Orphanet:98575 | Syndromic telecanthus | -| Orphanet:165707 | Syndromic urogenital tract malformation | -| Orphanet:180148 | Syndromic uterovaginal malformation | -| Orphanet:108973 | Syndromic visceral malformation | -| Orphanet:519327 | Syndromic vitreoretinopathy | -| Orphanet:3263 | Syngnathia-cleft palate syndrome | -| Orphanet:3273 | Synovial sarcoma | -| Orphanet:295195 | Synpolydactyly type 1 | -| Orphanet:295197 | Synpolydactyly type 2 | -| Orphanet:295199 | Synpolydactyly type 3 | -| Orphanet:840 | Syringocystadenoma papilliferum | -| Orphanet:3280 | Syringomyelia | -| Orphanet:364033 | Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood | -| Orphanet:182228 | Systemic autoimmune disease | -| Orphanet:188 | Systemic capillary leak syndrome | -| Orphanet:290836 | Systemic disease with skin involvement | -| Orphanet:280926 | Systemic diseases with anterior uveitis | -| Orphanet:280933 | Systemic diseases with panuveitis | -| Orphanet:280930 | Systemic diseases with posterior uveitis | -| Orphanet:209007 | Systemic inflammatory disease associated with an acquired peripheral neuropathy | -| Orphanet:536 | Systemic lupus erythematosus | -| Orphanet:2467 | Systemic mastocytosis | -| Orphanet:98849 | Systemic mastocytosis with associated hematologic neoplasm | -| Orphanet:90069 | Systemic monochloroacetate poisoning | -| Orphanet:439762 | Systemic polyarteritis nodosa | -| Orphanet:158 | Systemic primary carnitine deficiency | -| Orphanet:90291 | Systemic sclerosis | -| Orphanet:85414 | Systemic-onset juvenile idiopathic arthritis | -| Orphanet:3162 | Sézary syndrome | -| Orphanet:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | -| Orphanet:169157 | T-B+ severe combined immunodeficiency due to CD45 deficiency | -| Orphanet:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | -| Orphanet:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | -| Orphanet:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | -| Orphanet:324294 | T-cell immunodeficiency with epidermodysplasia verruciformis | -| Orphanet:83471 | T-cell immunodeficiency with thymic aplasia | -| Orphanet:86872 | T-cell large granular lymphocyte leukemia | -| Orphanet:86871 | T-cell prolymphocytic leukemia | -| Orphanet:300857 | T-cell/histiocyte rich large B cell lymphoma | -| Orphanet:457077 | TAFRO syndrome | -| Orphanet:2886 | TARP syndrome | -| Orphanet:488632 | TBCK-related intellectual disability syndrome | -| Orphanet:397959 | TCR-alpha-beta-positive T-cell deficiency | -| Orphanet:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | -| Orphanet:284227 | TEMPI syndrome | -| Orphanet:225123 | TFR2-related hemochromatosis | -| Orphanet:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | -| Orphanet:314667 | TMEM165-CDG | -| Orphanet:466703 | TMEM199-CDG | -| Orphanet:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | -| Orphanet:562569 | TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome | -| Orphanet:55595 | TNP03-related limb-girdle muscular dystrophy D2 | -| Orphanet:424261 | TOR1AIP1-related limb-girdle muscular dystrophy | -| Orphanet:592570 | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | -| Orphanet:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | -| Orphanet:597201 | TRIM22-related inflammatory bowel disease | -| Orphanet:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | -| Orphanet:364820 | TRPV4-related bone disorder | -| Orphanet:91347 | TSH-secreting pituitary adenoma | -| Orphanet:3287 | Takayasu arteritis | -| Orphanet:66529 | Tako-Tsubo cardiomyopathy | -| Orphanet:500095 | Tall stature-intellectual disability-renal anomalies syndrome | -| Orphanet:329191 | Tall stature-long halluces-multiple extra-epiphyses syndrome | -| Orphanet:50809 | Talo-patello-scaphoid osteolysis | -| Orphanet:31150 | Tangier disease | -| Orphanet:99170 | Tarsal kink syndrome | -| Orphanet:1412 | Tarsal-carpal coalition syndrome | -| Orphanet:404443 | Tatton-Brown-Rahman syndrome | -| Orphanet:845 | Tay-Sachs disease | -| Orphanet:309192 | Tay-Sachs disease, B variant, adult form | -| Orphanet:309178 | Tay-Sachs disease, B variant, infantile form | -| Orphanet:309185 | Tay-Sachs disease, B variant, juvenile form | -| Orphanet:309239 | Tay-Sachs disease, B1 variant | -| Orphanet:3291 | Teebi-Shaltout syndrome | -| Orphanet:3292 | Tel Hashomer camptodactyly syndrome | -| Orphanet:90389 | Telangiectasia macularis eruptiva perstans | -| Orphanet:3293 | Telecanthus-hypertelorism-strabismus-pes cavus syndrome | -| Orphanet:34514 | Telethonin-related limb-girdle muscular dystrophy R7 | -| Orphanet:352737 | Temperature-sensitive oculocutaneous albinism type 1 | -| Orphanet:254516 | Temple syndrome | -| Orphanet:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | -| Orphanet:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | -| Orphanet:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | -| Orphanet:420561 | Temple-Baraitser syndrome | -| Orphanet:210581 | Temporomandibular joint anomaly | -| Orphanet:363417 | Temtamy preaxial brachydactyly syndrome | -| Orphanet:1777 | Temtamy syndrome | -| Orphanet:66627 | Tenosynovial giant cell tumor | -| Orphanet:138059 | Teratogenic Pierre Robin syndrome | -| Orphanet:252018 | Teratoma of the central nervous system | -| Orphanet:645288 | Terminal extramedullary conus spinal cord lipoma | -| Orphanet:645337 | Terminal myelocystocele | -| Orphanet:88630 | Terminal osseous dysplasia-pigmentary defects syndrome | -| Orphanet:498461 | Terminal transverse limb defect | -| Orphanet:519410 | Terrien marginal degeneration | -| Orphanet:141258 | Tessier number 4 facial cleft | -| Orphanet:141261 | Tessier number 5 facial cleft | -| Orphanet:141265 | Tessier number 6 facial cleft | -| Orphanet:141276 | Tessier number 7 facial cleft | -| Orphanet:325124 | Testicular agenesis | -| Orphanet:983 | Testicular regression syndrome | -| Orphanet:842 | Testicular seminomatous germ cell tumor | -| Orphanet:363483 | Testicular teratoma | -| Orphanet:3299 | Tetanus | -| Orphanet:294971 | Tetra-amelia | -| Orphanet:3301 | Tetraamelia-multiple malformations syndrome | -| Orphanet:199310 | Tetragametic chimerism | -| Orphanet:293284 | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | -| Orphanet:3303 | Tetralogy of Fallot | -| Orphanet:2564 | Tetramelic monodactyly | -| Orphanet:3305 | Tetraploidy | -| Orphanet:884 | Tetrasomy 12p | -| Orphanet:3307 | Tetrasomy 18p | -| Orphanet:96055 | Tetrasomy 21 | -| Orphanet:3309 | Tetrasomy 5p | -| Orphanet:3310 | Tetrasomy 9p | -| Orphanet:9 | Tetrasomy X | -| Orphanet:1780 | Thakker-Donnai syndrome | -| Orphanet:3312 | Thalidomide embryopathy | -| Orphanet:2655 | Thanatophoric dysplasia | -| Orphanet:1860 | Thanatophoric dysplasia type 1 | -| Orphanet:93274 | Thanatophoric dysplasia type 2 | -| Orphanet:99917 | Theca steroid-producing cell malignant tumor of ovary, not further specified | -| Orphanet:199348 | Thiamine-responsive encephalopathy | -| Orphanet:268184 | Thiamine-responsive maple syrup urine disease | -| Orphanet:49827 | Thiamine-responsive megaloblastic anemia syndrome | -| Orphanet:2405 | Thickened earlobes-conductive deafness syndrome | -| Orphanet:98960 | Thiel-Behnke corneal dystrophy | -| Orphanet:3314 | Thiemann disease, familial form | -| Orphanet:1506 | Thin ribs-tubular bones-dysmorphism syndrome | -| Orphanet:166424 | Thinking seizures | -| Orphanet:141030 | Third branchial cleft anomaly | -| Orphanet:3316 | Thomas syndrome | -| Orphanet:614 | Thomsen and Becker disease | -| Orphanet:1861 | Thoracic dysplasia-hydrocephalus syndrome | -| Orphanet:182108 | Thoracic malformation | -| Orphanet:97330 | Thoracic outlet syndrome | -| Orphanet:1759 | Thoraco-abdominal enteric duplication | -| Orphanet:3317 | Thoracolaryngopelvic dysplasia | -| Orphanet:1803 | Thoracomelic dysplasia | -| Orphanet:329319 | Thrombocythemia with distal limb defects | -| Orphanet:67044 | Thrombocytopenia with congenital dyserythropoietic anemia | -| Orphanet:3320 | Thrombocytopenia-absent radius syndrome | -| Orphanet:436169 | Thrombomodulin-related bleeding disorder | -| Orphanet:93573 | Thrombotic microangiopathy | -| Orphanet:54057 | Thrombotic thrombocytopenic purpura | -| Orphanet:2251 | Thumb deformity-alopecia-pigmentation anomaly syndrome | -| Orphanet:1078 | Thumb stiffness-brachydactyly-intellectual disability syndrome | -| Orphanet:519406 | Thygeson superficial punctate keratitis | -| Orphanet:99868 | Thymic carcinoma | -| Orphanet:3398 | Thymic epithelial neoplasm | -| Orphanet:99869 | Thymic neuroendocrine carcinoma | -| Orphanet:97289 | Thymic neuroendocrine tumor | -| Orphanet:100100 | Thymic tumor | -| Orphanet:3326 | Thymic-renal-anal-lung dysplasia | -| Orphanet:99867 | Thymoma | -| Orphanet:263310 | Thymoma type A | -| Orphanet:263324 | Thymoma type AB | -| Orphanet:263317 | Thymoma type B | -| Orphanet:3327 | Thyrocerebrorenal syndrome | -| Orphanet:95712 | Thyroid ectopia | -| Orphanet:95719 | Thyroid hemiagenesis | -| Orphanet:95720 | Thyroid hypoplasia | -| Orphanet:97285 | Thyroid lymphoma | -| Orphanet:79102 | Thyrotoxic periodic paralysis | -| Orphanet:3329 | Tibial aplasia-ectrodactyly syndrome | -| Orphanet:93322 | Tibial hemimelia | -| Orphanet:988 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | -| Orphanet:609 | Tibial muscular dystrophy | -| Orphanet:295028 | Tibio-fibular synostosis | -| Orphanet:297 | Tick-borne encephalitis | -| Orphanet:42665 | Tietz syndrome | -| Orphanet:65283 | Timothy syndrome | -| Orphanet:595098 | Timothy syndrome type 1 | -| Orphanet:595105 | Timothy syndrome type 2 | -| Orphanet:140922 | Titin-related limb-girdle muscular dystrophy R10 | -| Orphanet:64686 | Tolosa-Hunt syndrome | -| Orphanet:1920 | Toluene embryopathy | -| Orphanet:3338 | Toriello-Carey syndrome | -| Orphanet:3339 | Toriello-Lacassie-Droste syndrome | -| Orphanet:51084 | Torsade-de-pointes syndrome with short coupling interval | -| Orphanet:3341 | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome | -| Orphanet:98141 | Total autosomal monosomy | -| Orphanet:98131 | Total autosomal trisomy | -| Orphanet:98994 | Total early-onset cataract | -| Orphanet:857 | Townes-Brocks syndrome | -| Orphanet:293815 | Toxic dermatosis | -| Orphanet:537 | Toxic epidermal necrolysis | -| Orphanet:279894 | Toxic maculopathy due to antimalarial drugs | -| Orphanet:227972 | Toxic oil syndrome | -| Orphanet:251529 | Toxic or drug-related embryofetopathy | -| Orphanet:230800 | Toxin-mediated infectious botulism | -| Orphanet:3343 | Toxocariasis | -| Orphanet:3346 | Tracheal agenesis | -| Orphanet:156252 | Tracheal anomaly | -| Orphanet:3348 | Tracheobronchopathia osteochondroplastica | -| Orphanet:101028 | Transaldolase deficiency | -| Orphanet:2967 | Transcobalamin I deficiency | -| Orphanet:859 | Transcobalamin deficiency | -| Orphanet:495 | Transgrediens et progrediens palmoplantar keratoderma | -| Orphanet:178045 | Transient congenital hypothyroidism | -| Orphanet:238696 | Transient congenital hypothyroidism due to maternal factor | -| Orphanet:238699 | Transient congenital hypothyroidism due to neonatal factor | -| Orphanet:98871 | Transient erythroblastopenia of childhood | -| Orphanet:2312 | Transient familial neonatal hyperbilirubinemia | -| Orphanet:289877 | Transient hyperammonemia of the newborn | -| Orphanet:169139 | Transient hypogammaglobulinemia of infancy | -| Orphanet:300293 | Transient infantile hypertriglyceridemia and hepatosteatosis | -| Orphanet:420611 | Transient myeloproliferative syndrome | -| Orphanet:99886 | Transient neonatal diabetes mellitus | -| Orphanet:329942 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | -| Orphanet:391504 | Transient neonatal myasthenia gravis | -| Orphanet:93164 | Transient pseudohypoaldosteronism | -| Orphanet:3402 | Transient tyrosinemia of the newborn | -| Orphanet:213746 | Transitional cell carcinoma of the corpus uteri | -| Orphanet:645291 | Transitional extramedullary conus spinal cord lipoma | -| Orphanet:488618 | Transketolase deficiency | -| Orphanet:216675 | Transposition of the great arteries | -| Orphanet:98717 | Transposition of the great arteries and conotruncal cardiac anomaly | -| Orphanet:180160 | Transverse vaginal septum | -| Orphanet:399175 | Traumatic avascular necrosis | -| Orphanet:861 | Treacher-Collins syndrome | -| Orphanet:103909 | Trehalase deficiency | -| Orphanet:447896 | Tremor-ataxia-central hypomyelination syndrome | -| Orphanet:3350 | Tremor-nystagmus-duodenal ulcer syndrome | -| Orphanet:64694 | Trench fever | -| Orphanet:1463 | Triatrial heart | -| Orphanet:254749 | Tricarboxylic acid cycle disorder | -| Orphanet:863 | Trichinellosis | -| Orphanet:3352 | Tricho-dento-osseous syndrome | -| Orphanet:1264 | Tricho-retino-dento-digital syndrome | -| Orphanet:3351 | Trichodental syndrome | -| Orphanet:3353 | Trichodermodysplasia-dental alterations syndrome | -| Orphanet:79129 | Trichodysplasia-amelogenesis imperfecta syndrome | -| Orphanet:3361 | Trichodysplasia-xeroderma syndrome | -| Orphanet:864 | Trichofolliculoma | -| Orphanet:3363 | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome | -| Orphanet:3355 | Trichoodontoonychial dysplasia | -| Orphanet:324764 | Trichorhinophalangeal syndrome | -| Orphanet:77258 | Trichorhinophalangeal syndrome type 1 | -| Orphanet:502 | Trichorhinophalangeal syndrome type 2 | -| Orphanet:33364 | Trichothiodystrophy | -| Orphanet:1209 | Tricuspid atresia | -| Orphanet:95457 | Tricuspid valve agenesis | -| Orphanet:157843 | Trigeminal autonomic cephalalgia | -| Orphanet:221091 | Trigeminal neuralgia | -| Orphanet:3368 | Trigonocephaly-bifid nose-acral anomalies syndrome | -| Orphanet:3365 | Trigonocephaly-broad thumbs syndrome | -| Orphanet:3369 | Trigonocephaly-short stature-developmental delay syndrome | -| Orphanet:868 | Triose phosphate-isomerase deficiency | -| Orphanet:2947 | Triphalangeal thumbs-brachyectrodactyly syndrome | -| Orphanet:869 | Triple A syndrome | -| Orphanet:3376 | Triploidy | -| Orphanet:3377 | Trismus-pseudocamptodactyly syndrome | -| Orphanet:171929 | Trisomy 10p | -| Orphanet:1699 | Trisomy 12p | -| Orphanet:3378 | Trisomy 13 | -| Orphanet:261290 | Trisomy 17p | -| Orphanet:3380 | Trisomy 18 | -| Orphanet:1715 | Trisomy 18p | -| Orphanet:261344 | Trisomy 1q | -| Orphanet:261318 | Trisomy 20p | -| Orphanet:1738 | Trisomy 4p | -| Orphanet:1742 | Trisomy 5p | -| Orphanet:264450 | Trisomy 8p | -| Orphanet:1752 | Trisomy 8q | -| Orphanet:236 | Trisomy 9p | -| Orphanet:3375 | Trisomy X | -| Orphanet:88629 | Tritanopia | -| Orphanet:75565 | Tropical endomyocardial fibrosis | -| Orphanet:103918 | Tropical pancreatitis | -| Orphanet:289326 | Tropical spastic paraparesis | -| Orphanet:295030 | True congenital shoulder dislocation | -| Orphanet:645383 | True myelomeningocele | -| Orphanet:645401 | True myeloschisis | -| Orphanet:180074 | True unicornuate uterus | -| Orphanet:3384 | Truncus arteriosus | -| Orphanet:3389 | Tuberculosis | -| Orphanet:805 | Tuberous sclerosis complex | -| Orphanet:2593 | Tubular aggregate myopathy | -| Orphanet:100048 | Tubular duplication of the esophagus | -| Orphanet:467166 | Tubulinopathy-associated dysgyria | -| Orphanet:319325 | Tubulocystic renal cell carcinoma | -| Orphanet:91500 | Tubulointerstitial nephritis and uveitis syndrome | -| Orphanet:1063 | Tufted angioma | -| Orphanet:3392 | Tularemia | -| Orphanet:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | -| Orphanet:252057 | Tumor of cranial and spinal nerves | -| Orphanet:182130 | Tumor of endocrine glands | -| Orphanet:68347 | Tumor of hematopoietic and lymphoid tissues | -| Orphanet:252025 | Tumor of meninges | -| Orphanet:363472 | Tumor of testis and paratestis | -| Orphanet:879 | Tungiasis | -| Orphanet:99053 | Tunnel subaortic stenosis | -| Orphanet:99818 | Turcot syndrome with polyposis | -| Orphanet:881 | Turner syndrome | -| Orphanet:99413 | Turner syndrome due to structural X chromosome anomalies | -| Orphanet:617294 | Twin anemia-polycythemia sequence | -| Orphanet:95431 | Twin to twin transfusion syndrome | -| Orphanet:617297 | Twin-reversed arterial perfusion sequence | -| Orphanet:477647 | Type 1 interferonopathy | -| Orphanet:481671 | Type 1 interferonopathy of childhood | -| Orphanet:93422 | Type 11 collagen-related bone disorder | -| Orphanet:93421 | Type 2 collagen-related bone disorder | -| Orphanet:99745 | Typhoid | -| Orphanet:102023 | Typhus-group rickettsiosis | -| Orphanet:171436 | Typical nemaline myopathy | -| Orphanet:158766 | Typical urticaria pigmentosa | -| Orphanet:882 | Tyrosinemia type 1 | -| Orphanet:28378 | Tyrosinemia type 2 | -| Orphanet:69723 | Tyrosinemia type 3 | -| Orphanet:88950 | UMOD-related autosomal dominant tubulointerstitial kidney disease | -| Orphanet:481665 | USP18 deficiency | -| Orphanet:178338 | UV-sensitive syndrome | -| Orphanet:3403 | Uhl anomaly | -| Orphanet:3404 | Ulbright-Hodes syndrome | -| Orphanet:3406 | Ulerythema ophryogenesis | -| Orphanet:2249 | Ulna hypoplasia-intellectual disability syndrome | -| Orphanet:1837 | Ulna metaphyseal dysplasia syndrome | -| Orphanet:93320 | Ulnar hemimelia | -| Orphanet:1122 | Ulnar hypoplasia-split foot syndrome | -| Orphanet:3138 | Ulnar-mammary syndrome | -| Orphanet:52056 | Ulnar/fibula ray defect-brachydactyly syndrome | -| Orphanet:3405 | Umbilical cord ulceration-intestinal atresia syndrome | -| Orphanet:324936 | Unclassified autoinflammatory syndrome | -| Orphanet:324953 | Unclassified autoinflammatory syndrome of childhood | -| Orphanet:217678 | Unclassified cardiomyopathy | -| Orphanet:79385 | Unclassified genetic skin disorder | -| Orphanet:104078 | Unclassified intestinal pseudoobstruction | -| Orphanet:98827 | Unclassified myelodysplastic syndrome | -| Orphanet:98825 | Unclassified myelodysplastic/myeloproliferative disease | -| Orphanet:251328 | Unclassified vasculitis | -| Orphanet:1410 | Uncombable hair syndrome | -| Orphanet:103920 | Undetermined colitis | -| Orphanet:418951 | Undifferentiated carcinoma of esophagus | -| Orphanet:424970 | Undifferentiated carcinoma of liver and intrahepatic biliary tract | -| Orphanet:423786 | Undifferentiated carcinoma of stomach | -| Orphanet:213721 | Undifferentiated carcinoma of the corpus uteri | -| Orphanet:424080 | Undifferentiated carcinoma with osteoclast-like giant cells of pancreas | -| Orphanet:90002 | Undifferentiated connective tissue syndrome | -| Orphanet:178315 | Undifferentiated embryonal sarcoma of the liver | -| Orphanet:2023 | Undifferentiated pleomorphic sarcoma | -| Orphanet:251332 | Unexplained long-lasting fever/inflammatory syndrome | -| Orphanet:102237 | Unexplained periodic fever syndrome | -| Orphanet:324960 | Unexplained periodic fever syndrome of childhood | -| Orphanet:93685 | Unicentric Castleman disease | -| Orphanet:180114 | Unicervical bicornuate uterus | -| Orphanet:93176 | Unilateral congenital megacalycosis | -| Orphanet:268947 | Unilateral focal polymicrogyria | -| Orphanet:101071 | Unilateral hemispheric polymicrogyria | -| Orphanet:97363 | Unilateral multicystic dysplastic kidney | -| Orphanet:3374 | Unilateral ocular duplication | -| Orphanet:268943 | Unilateral polymicrogyria | -| Orphanet:263793 | Uniparental disomy of chromosome X | -| Orphanet:95483 | Univentricular cardiopathy | -| Orphanet:1464 | Univentricular heart | -| Orphanet:91140 | Unspecified juvenile idiopathic arthritis | -| Orphanet:254837 | Unspecified mitochondrial disorder | -| Orphanet:99139 | Unstable hemoglobin disease | -| Orphanet:3408 | Upington disease | -| Orphanet:2489 | Upper limb defect-eye and ear abnormalities syndrome | -| Orphanet:295049 | Upper limb hypertrophy | -| Orphanet:2497 | Upper limb mesomelic dysplasia | -| Orphanet:598216 | Upper tract urothelial carcinoma | -| Orphanet:488 | Urachal cyst | -| Orphanet:431347 | Urachal diverticulum | -| Orphanet:431344 | Urachal sinus | -| Orphanet:3409 | Urban-Rogers-Meyer syndrome | -| Orphanet:210128 | Urocanic aciduria | -| Orphanet:83001 | Urogenital tract malformation | -| Orphanet:886 | Usher syndrome | -| Orphanet:231169 | Usher syndrome type 1 | -| Orphanet:231178 | Usher syndrome type 2 | -| Orphanet:231183 | Usher syndrome type 3 | -| Orphanet:180145 | Uterine cervical aplasia and agenesis | -| Orphanet:180139 | Uterine hypoplasia | -| Orphanet:180062 | Uterovaginal malformation | -| Orphanet:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | -| Orphanet:39044 | Uveal melanoma | -| Orphanet:98715 | Uveitis | -| Orphanet:3412 | VACTERL with hydrocephalus | -| Orphanet:887 | VACTERL/VATER association | -| Orphanet:596753 | VEXAS syndrome | -| Orphanet:97282 | VIPoma | -| Orphanet:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | -| Orphanet:88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | -| Orphanet:65681 | Vaginal atresia | -| Orphanet:180247 | Vaginal carcinoma | -| Orphanet:99054 | Valvular pulmonary stenosis | -| Orphanet:3417 | Van den Bosch syndrome | -| Orphanet:2460 | Van den Ende-Gupta syndrome | -| Orphanet:888 | Van der Woude syndrome | -| Orphanet:454742 | Variably protease-sensitive prionopathy | -| Orphanet:314652 | Variant ABeta2M amyloidosis | -| Orphanet:576370 | Variant Creutzfeldt-Jakob disease | -| Orphanet:231413 | Variant of Guillain-Barré syndrome | -| Orphanet:286 | Vascular Ehlers-Danlos syndrome | -| Orphanet:636941 | Vascular Ehlers-Danlos-polymicrogyria syndrome | -| Orphanet:68419 | Vascular anomaly or angioma | -| Orphanet:458827 | Vascular tumor with associated anomalies | -| Orphanet:52759 | Vasculitis | -| Orphanet:404553 | Vasculitis due to ADA2 deficiency | -| Orphanet:353356 | Vasoproliferative tumor of the retina | -| Orphanet:538872 | Vegetative pyoderma gangrenosum | -| Orphanet:1053 | Vein of Galen aneurysmal malformation | -| Orphanet:3424 | Velo-facial-skeletal syndrome | -| Orphanet:319234 | Venezuelan hemorrhagic fever | -| Orphanet:357131 | Venous thoracic outlet syndrome | -| Orphanet:3201 | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome | -| Orphanet:443988 | Ventriculomegaly-cystic kidney disease | -| Orphanet:3429 | Verloove Vanhorick-Brubakk syndrome | -| Orphanet:70476 | Vernal keratoconjunctivitis | -| Orphanet:464318 | Verrucous hemangioma | -| Orphanet:79467 | Verrucous nevus | -| Orphanet:26793 | Very long chain acyl-CoA dehydrogenase deficiency | -| Orphanet:252175 | Vestibular schwannoma | -| Orphanet:493342 | Vibratory urticaria | -| Orphanet:1493 | Vici syndrome | -| Orphanet:341 | Viral hemorrhagic fever | -| Orphanet:206991 | Viral myositis | -| Orphanet:228379 | Virus-associated trichodysplasia spinulosa | -| Orphanet:280068 | Visceral calciphylaxis | -| Orphanet:98041 | Visceral malformation of the liver, biliary tract, pancreas or spleen | -| Orphanet:73246 | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome | -| Orphanet:420556 | Visual snow syndrome | -| Orphanet:98415 | Vitamin B12- and folate-independent constitutional megaloblastic anemia | -| Orphanet:28 | Vitamin B12-responsive methylmalonic acidemia | -| Orphanet:79310 | Vitamin B12-responsive methylmalonic acidemia type cblA | -| Orphanet:79311 | Vitamin B12-responsive methylmalonic acidemia type cblB | -| Orphanet:308442 | Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | -| Orphanet:27 | Vitamin B12-unresponsive methylmalonic acidemia | -| Orphanet:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | -| Orphanet:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | -| Orphanet:1914 | Vitamin K antagonist embryofetopathy | -| Orphanet:98668 | Vitreoretinopathy | -| Orphanet:600 | Vocal cord and pharyngeal distal myopathy | -| Orphanet:3437 | Vogt-Koyanagi-Harada disease | -| Orphanet:892 | Von Hippel-Lindau disease | -| Orphanet:3439 | Von Voss-Cherstvoy syndrome | -| Orphanet:903 | Von Willebrand disease | -| Orphanet:166078 | Von Willebrand disease type 1 | -| Orphanet:166081 | Von Willebrand disease type 2 | -| Orphanet:166084 | Von Willebrand disease type 2A | -| Orphanet:166087 | Von Willebrand disease type 2B | -| Orphanet:166090 | Von Willebrand disease type 2M | -| Orphanet:166093 | Von Willebrand disease type 2N | -| Orphanet:166096 | Von Willebrand disease type 3 | -| Orphanet:494454 | Vulvar adenocarcinoma | -| Orphanet:494451 | Vulvar basal cell carcinoma | -| Orphanet:494418 | Vulvar carcinoma | -| Orphanet:137583 | Vulvar intraepithelial neoplasia | -| Orphanet:494448 | Vulvar squamous cell carcinoma | -| Orphanet:83453 | Vulvovaginal gingival syndrome | -| Orphanet:206492 | Vulvovaginal rhabdomyosarcoma | -| Orphanet:2804 | W syndrome | -| Orphanet:466943 | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome | -| Orphanet:893 | WAGR syndrome | -| Orphanet:572798 | WARS2-related combined oxidative phosphorylation defect | -| Orphanet:51636 | WHIM syndrome | -| Orphanet:3466 | WT limb-blood syndrome | -| Orphanet:3440 | Waardenburg syndrome | -| Orphanet:894 | Waardenburg syndrome type 1 | -| Orphanet:895 | Waardenburg syndrome type 2 | -| Orphanet:896 | Waardenburg syndrome type 3 | -| Orphanet:897 | Waardenburg-Shah syndrome | -| Orphanet:898 | Wagner disease | -| Orphanet:33226 | Waldenström macroglobulinemia | -| Orphanet:899 | Walker-Warburg syndrome | -| Orphanet:280558 | Warsaw breakage syndrome | -| Orphanet:568056 | Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome | -| Orphanet:69745 | Warty dyskeratoma | -| Orphanet:100067 | Waterhouse-Friderichsen syndrome | -| Orphanet:3447 | Weaver syndrome | -| Orphanet:3448 | Weaver-Williams syndrome | -| Orphanet:3449 | Weill-Marchesani syndrome | -| Orphanet:3344 | Weismann-Netter syndrome | -| Orphanet:284395 | Well-differentiated fetal adenocarcinoma of the lung | -| Orphanet:99971 | Well-differentiated liposarcoma | -| Orphanet:263331 | Well-differentiated thymic neuroendocrine carcinoma | -| Orphanet:901 | Wells syndrome | -| Orphanet:902 | Werner syndrome | -| Orphanet:83476 | West-Nile encephalitis | -| Orphanet:83593 | Western equine encephalitis | -| Orphanet:3452 | Whipple disease | -| Orphanet:228290 | White fibrous papulosis of the neck | -| Orphanet:2475 | White forelock with malformations | -| Orphanet:3207 | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | -| Orphanet:370131 | White platelet syndrome | -| Orphanet:171723 | White sponge nevus | -| Orphanet:468678 | White-Sutton syndrome | -| Orphanet:1489 | Whooping cough | -| Orphanet:3455 | Wiedemann-Rautenstrauch syndrome | -| Orphanet:319182 | Wiedemann-Steiner syndrome | -| Orphanet:85446 | Wild type ABeta2M amyloidosis | -| Orphanet:330001 | Wild type ATTR amyloidosis | -| Orphanet:3456 | Wildervanck syndrome | -| Orphanet:904 | Williams syndrome | -| Orphanet:411501 | Williams-Campbell syndrome | -| Orphanet:905 | Wilson disease | -| Orphanet:3459 | Wilson-Turner syndrome | -| Orphanet:906 | Wiskott-Aldrich syndrome | -| Orphanet:500163 | Witteveen-Kolk syndrome | -| Orphanet:1667 | Wolcott-Rallison syndrome | -| Orphanet:280 | Wolf-Hirschhorn syndrome | -| Orphanet:3463 | Wolfram syndrome | -| Orphanet:411590 | Wolfram-like syndrome | -| Orphanet:75233 | Wolman disease | -| Orphanet:3464 | Woodhouse-Sakati syndrome | -| Orphanet:170 | Woolly hair | -| Orphanet:79414 | Woolly hair nevus | -| Orphanet:420686 | Woolly hair-palmoplantar keratoderma syndrome | -| Orphanet:166277 | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | -| Orphanet:3465 | Worster-Drought syndrome | -| Orphanet:178475 | Wound botulism | -| Orphanet:165955 | Wound myiasis | -| Orphanet:2834 | Wrinkly skin syndrome | -| Orphanet:53719 | Wyburn-Mason syndrome | -| Orphanet:263749 | X and Y chromosomal anomaly | -| Orphanet:263714 | X chromosome number anomaly | -| Orphanet:263717 | X chromosome number anomaly with female phenotype | -| Orphanet:263720 | X chromosome number anomaly with male phenotype | -| Orphanet:96201 | X small rings | -| Orphanet:88917 | X-linked Alport syndrome | -| Orphanet:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | -| Orphanet:64747 | X-linked Charcot-Marie-Tooth disease | -| Orphanet:101075 | X-linked Charcot-Marie-Tooth disease type 1 | -| Orphanet:101076 | X-linked Charcot-Marie-Tooth disease type 2 | -| Orphanet:101077 | X-linked Charcot-Marie-Tooth disease type 3 | -| Orphanet:101078 | X-linked Charcot-Marie-Tooth disease type 4 | -| Orphanet:99014 | X-linked Charcot-Marie-Tooth disease type 5 | -| Orphanet:352675 | X-linked Charcot-Marie-Tooth disease type 6 | -| Orphanet:75497 | X-linked Ehlers-Danlos syndrome | -| Orphanet:98863 | X-linked Emery-Dreifuss muscular dystrophy | -| Orphanet:300373 | X-linked acrogigantism | -| Orphanet:95702 | X-linked adrenal hypoplasia congenita | -| Orphanet:43 | X-linked adrenoleukodystrophy | -| Orphanet:47 | X-linked agammaglobulinemia | -| Orphanet:391327 | X-linked calvarial hyperostosis | -| Orphanet:329235 | X-linked central congenital hypothyroidism with late-onset testicular enlargement | -| Orphanet:596 | X-linked centronuclear myopathy | -| Orphanet:247765 | X-linked cerebellar ataxia | -| Orphanet:139396 | X-linked cerebral adrenoleukodystrophy | -| Orphanet:163961 | X-linked cerebral-cerebellar-coloboma syndrome | -| Orphanet:324601 | X-linked cleft palate and ankyloglossia | -| Orphanet:431140 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | -| Orphanet:98888 | X-linked complex spastic paraplegia | -| Orphanet:1497 | X-linked complicated corpus callosum dysgenesis | -| Orphanet:306617 | X-linked complicated spastic paraplegia type 1 | -| Orphanet:90001 | X-linked cone dysfunction syndrome with myopia | -| Orphanet:79495 | X-linked congenital generalized hypertrichosis | -| Orphanet:1661 | X-linked corneal dermoid | -| Orphanet:52503 | X-linked creatine transporter deficiency | -| Orphanet:404538 | X-linked distal hereditary motor neuropathy | -| Orphanet:139557 | X-linked distal spinal muscular atrophy type 3 | -| Orphanet:35173 | X-linked dominant chondrodysplasia punctata | -| Orphanet:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | -| Orphanet:363727 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | -| Orphanet:53351 | X-linked dystonia-parkinsonism | -| Orphanet:293621 | X-linked endothelial corneal dystrophy | -| Orphanet:85294 | X-linked epilepsy-learning disabilities-behavior disorders syndrome | -| Orphanet:443197 | X-linked erythropoietic protoporphyria | -| Orphanet:500188 | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | -| Orphanet:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | -| Orphanet:139583 | X-linked hereditary sensory and autonomic neuropathy with deafness | -| Orphanet:101088 | X-linked hyper-IgM syndrome | -| Orphanet:181 | X-linked hypohidrotic ectodermal dysplasia | -| Orphanet:89936 | X-linked hypophosphatemia | -| Orphanet:281210 | X-linked ichthyosis syndrome | -| Orphanet:317476 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | -| Orphanet:2571 | X-linked immunoneurologic disorder | -| Orphanet:364028 | X-linked intellectual disability due to GRIA3 mutations | -| Orphanet:67045 | X-linked intellectual disability with isolated growth hormone deficiency | -| Orphanet:85273 | X-linked intellectual disability, Abidi type | -| Orphanet:85276 | X-linked intellectual disability, Armfield type | -| Orphanet:85293 | X-linked intellectual disability, Cabezas type | -| Orphanet:85277 | X-linked intellectual disability, Cantagrel type | -| Orphanet:163971 | X-linked intellectual disability, Cilliers type | -| Orphanet:93947 | X-linked intellectual disability, Golabi-Ito-Hall type | -| Orphanet:93952 | X-linked intellectual disability, Hedera type | -| Orphanet:85283 | X-linked intellectual disability, Miles-Carpenter type | -| Orphanet:163937 | X-linked intellectual disability, Najm type | -| Orphanet:163956 | X-linked intellectual disability, Nascimento type | -| Orphanet:85322 | X-linked intellectual disability, Pai type | -| Orphanet:93945 | X-linked intellectual disability, Porteous type | -| Orphanet:85285 | X-linked intellectual disability, Schimke type | -| Orphanet:85323 | X-linked intellectual disability, Seemanova type | -| Orphanet:85286 | X-linked intellectual disability, Shashi type | -| Orphanet:85324 | X-linked intellectual disability, Shrimpton type | -| Orphanet:85287 | X-linked intellectual disability, Siderius type | -| Orphanet:3063 | X-linked intellectual disability, Snyder type | -| Orphanet:85325 | X-linked intellectual disability, Stevenson type | -| Orphanet:85288 | X-linked intellectual disability, Stocco Dos Santos type | -| Orphanet:85326 | X-linked intellectual disability, Stoll type | -| Orphanet:93950 | X-linked intellectual disability, Sutherland-Haan type | -| Orphanet:163976 | X-linked intellectual disability, Van Esch type | -| Orphanet:85290 | X-linked intellectual disability, Wilson type | -| Orphanet:1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | -| Orphanet:85327 | X-linked intellectual disability-acromegaly-hyperactivity syndrome | -| Orphanet:85338 | X-linked intellectual disability-ataxia-apraxia syndrome | -| Orphanet:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | -| Orphanet:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | -| Orphanet:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | -| Orphanet:163979 | X-linked intellectual disability-craniofacioskeletal syndrome | -| Orphanet:85280 | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | -| Orphanet:2958 | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome | -| Orphanet:2076 | X-linked intellectual disability-epilepsy syndrome | -| Orphanet:85319 | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome | -| Orphanet:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | -| Orphanet:85317 | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | -| Orphanet:3055 | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome | -| Orphanet:85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | -| Orphanet:457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome | -| Orphanet:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | -| Orphanet:85320 | X-linked intellectual disability-macrocephaly-macroorchidism syndrome | -| Orphanet:2898 | X-linked intellectual disability-plagiocephaly syndrome | -| Orphanet:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | -| Orphanet:85332 | X-linked intellectual disability-retinitis pigmentosa syndrome | -| Orphanet:3052 | X-linked intellectual disability-seizures-psoriasis syndrome | -| Orphanet:457240 | X-linked intellectual disability-short stature-overweight syndrome | -| Orphanet:482606 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome | -| Orphanet:79447 | X-linked lethal multiple pterygium syndrome | -| Orphanet:452 | X-linked lissencephaly with abnormal genitalia | -| Orphanet:538931 | X-linked lymphoproliferative disease due to SH2D1A deficiency | -| Orphanet:538934 | X-linked lymphoproliferative disease due to XIAP deficiency | -| Orphanet:1131 | X-linked mandibulofacial dysostosis | -| Orphanet:319605 | X-linked mendelian susceptibility to mycobacterial diseases | -| Orphanet:319623 | X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | -| Orphanet:319612 | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency | -| Orphanet:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | -| Orphanet:25980 | X-linked myopathy with excessive autophagy | -| Orphanet:178461 | X-linked myopathy with postural muscle atrophy | -| Orphanet:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | -| Orphanet:85334 | X-linked neurodegenerative syndrome, Bertini type | -| Orphanet:85336 | X-linked neurodegenerative syndrome, Hamel type | -| Orphanet:314978 | X-linked non progressive cerebellar ataxia | -| Orphanet:777 | X-linked non-syndromic intellectual disability | -| Orphanet:391330 | X-linked osteoporosis with fractures | -| Orphanet:363654 | X-linked parkinsonism-spasticity syndrome | -| Orphanet:1175 | X-linked progressive cerebellar ataxia | -| Orphanet:320332 | X-linked pure spastic paraplegia | -| Orphanet:54 | X-linked recessive ocular albinism | -| Orphanet:85453 | X-linked reticulate pigmentary disorder | -| Orphanet:1852 | X-linked retinal dysplasia | -| Orphanet:792 | X-linked retinoschisis | -| Orphanet:431272 | X-linked scapuloperoneal muscular dystrophy | -| Orphanet:86788 | X-linked severe congenital neutropenia | -| Orphanet:622925 | X-linked severe syndromic thoracic aortic aneurysm and dissection | -| Orphanet:75563 | X-linked sideroblastic anemia | -| Orphanet:2802 | X-linked sideroblastic anemia and spinocerebellar ataxia | -| Orphanet:1436 | X-linked skeletal dysplasia-intellectual disability syndrome | -| Orphanet:100997 | X-linked spastic paraplegia type 16 | -| Orphanet:171607 | X-linked spastic paraplegia type 34 | -| Orphanet:3175 | X-linked spasticity-intellectual disability-epilepsy syndrome | -| Orphanet:85297 | X-linked spinocerebellar ataxia type 3 | -| Orphanet:85292 | X-linked spinocerebellar ataxia type 4 | -| Orphanet:93349 | X-linked spondyloepimetaphyseal dysplasia | -| Orphanet:852 | X-linked thrombocytopenia with normal platelets | -| Orphanet:3469 | XK aprosencephaly syndrome | -| Orphanet:1770 | XY type gonadal dysgenesis-associated anomalies syndrome | -| Orphanet:370930 | XYLT1-CDG | -| Orphanet:93601 | Xanthinuria type I | -| Orphanet:93602 | Xanthinuria type II | -| Orphanet:158003 | Xanthoma disseminatum | -| Orphanet:910 | Xeroderma pigmentosum | -| Orphanet:90342 | Xeroderma pigmentosum variant | -| Orphanet:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | -| Orphanet:261476 | Xp21 deletion syndrome | -| Orphanet:284180 | Xp22.13p22.2 duplication syndrome | -| Orphanet:1643 | Xp22.3 microdeletion syndrome | -| Orphanet:314389 | Xq12-q13.3 duplication syndrome | -| Orphanet:1435 | Xq21 microdeletion syndrome | -| Orphanet:521258 | Xq25 microduplication syndrome | -| Orphanet:261483 | Xq27.3q28 duplication syndrome | -| Orphanet:263746 | Y chromosome number anomaly | -| Orphanet:99829 | Yellow fever | -| Orphanet:662 | Yellow nail syndrome | -| Orphanet:876 | Yolk sac tumor | -| Orphanet:252006 | Yolk sac tumor of central nervous system | -| Orphanet:314485 | Young adult-onset distal hereditary motor neuropathy | -| Orphanet:3471 | Young syndrome | -| Orphanet:2828 | Young-onset Parkinson disease | -| Orphanet:3472 | Yunis-Varon syndrome | -| Orphanet:97240 | Zebra body myopathy | -| Orphanet:217017 | Zechi-Ceide syndrome | -| Orphanet:912 | Zellweger syndrome | -| Orphanet:50812 | Zellweger-like syndrome without peroxisomal anomalies | -| Orphanet:448237 | Zika virus disease | -| Orphanet:3473 | Zimmermann-Laband syndrome | -| Orphanet:439196 | Zinc-responsive necrolytic acral erythema | -| Orphanet:913 | Zollinger-Ellison syndrome | -| Orphanet:295187 | Zygodactyly type 1 | -| Orphanet:295189 | Zygodactyly type 2 | -| Orphanet:295191 | Zygodactyly type 3 | -| Orphanet:295193 | Zygodactyly type 4 | -| Orphanet:73263 | Zygomycosis | -| Orphanet:377790 | biological anomaly | -| Orphanet:377792 | clinical syndrome | -| Orphanet:377788 | disease | -| Orphanet:557493 | disorder | -| Orphanet:557492 | group of disorders | -| Orphanet:377789 | malformation syndrome | -| Orphanet:377791 | morphological anomaly | -| Orphanet:377793 | particular clinical situation in a disease or syndrome | -| Orphanet:557494 | subtype of a disorder | -| Orphanet:178333 | Åland Islands eye disease | \ No newline at end of file +| subject_id | subject_label | +|:----------------|:---------------------------------------------------------------------------------------------------| +| Orphanet:658540 | 16q22 deletion syndrome | +| Orphanet:656279 | 1p36.33 duplication syndrome | +| Orphanet:647758 | Adrenal Cushing syndrome | +| Orphanet:652532 | Adult-onset progressive leukoencephalopathy-early-onset deafness | +| Orphanet:645282 | Anomaly of the filum | +| Orphanet:656071 | Atrophic papulosis | +| Orphanet:658810 | Atrophoderma of Pasini and Pierini | +| Orphanet:653434 | Autoinflammatory syndrome with acne and/or hidradenitis suppurativa | +| Orphanet:656912 | Autosomal dominant combined immunodeficiency due to ERBIN deficiency | +| Orphanet:656313 | Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency | +| Orphanet:656326 | Autosomal recessive combined immunodeficiency due to IL6R deficiency | +| Orphanet:656283 | Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | +| Orphanet:656300 | Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency | +| Orphanet:653725 | Autosomal recessive limb-girdle muscular dystrophy, type 28 | +| Orphanet:656085 | Benign atrophic papulosis | +| Orphanet:649014 | Bronchial malformation | +| Orphanet:653712 | CHD4-related neurodevelopmental disorder | +| Orphanet:658778 | COQ7-related distal hereditary motor neuropathy | +| Orphanet:649929 | Central precocious puberty in male | +| Orphanet:648684 | Central retinal artery occlusion | +| Orphanet:645285 | Chaotic conus spinal cord lipoma | +| Orphanet:652519 | Cleft palate-congenital heart defect-intellectual disability syndrome | +| Orphanet:652514 | Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation | +| Orphanet:658917 | Clonorchiasis | +| Orphanet:645202 | Closed spinal dysraphism | +| Orphanet:646098 | Collagen VI-related congenital muscular dystrophy | +| Orphanet:653709 | Cone rod dystrophy-short stature syndrome | +| Orphanet:653728 | Congenital insensitivity to pain syndrome, Marsili type | +| Orphanet:522514 | Congenital optic disc excavation of genetic origin | +| Orphanet:647916 | Conjoined twins | +| Orphanet:645367 | Conus spinal cord lipoma | +| Orphanet:642788 | Cushing syndrome due to cortisol-producing adrenocortical adenoma | +| Orphanet:658595 | DNMT3A-related microcephalic dwarfism | +| Orphanet:658843 | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome | +| Orphanet:653722 | Digenic Alport syndrome | +| Orphanet:648581 | Digenic hemochromatosis | +| Orphanet:519337 | Disorder with optic nerve compression | +| Orphanet:645362 | Dorsal spinal cord lipoma | +| Orphanet:645273 | Dysraphic spinal cord lipoma | +| Orphanet:645193 | Dysraphism with stalk | +| Orphanet:658946 | Early-onset autoimmune disorder due to DOCK11 partial deficiency | +| Orphanet:658951 | Early-onset immune dysregulation due to DOCK11 complete deficiency | +| Orphanet:656417 | Embryonal tumor with multilayered rosettes | +| Orphanet:645297 | Extramedullary conus spinal cord lipoma | +| Orphanet:658590 | Eyelid sebaceous carcinoma | +| Orphanet:658909 | Fasciolopsiasis | +| Orphanet:645279 | Fibrolipomatous filum anomaly | +| Orphanet:645310 | Fibroneural non-saccular limited dorsal myeloschisis | +| Orphanet:325713 | Genetic 46,XY difference of sex development of endocrine origin | +| Orphanet:652510 | Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa | +| Orphanet:650182 | Genetic central precocious puberty | +| Orphanet:650077 | Genetic central precocious puberty in female | +| Orphanet:650097 | Genetic central precocious puberty in male | +| Orphanet:269560 | Genetic cerebellar malformation | +| Orphanet:522560 | Genetic corneal dystrophy | +| Orphanet:522562 | Genetic superficial corneal dystrophy | +| Orphanet:269570 | Genetic syndrome with a Dandy-Walker malformation as a major feature | +| Orphanet:658805 | Greig cephalopolysyndactyly-contiguous gene syndrome | +| Orphanet:643538 | Hao-Fountain syndrome due to USP7 mutation | +| Orphanet:645393 | Hemi-myeloschisis | +| Orphanet:656273 | Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome | +| Orphanet:648675 | Idiopathic scleritis | +| Orphanet:658549 | Idiopathic small fibers neuropathy | +| Orphanet:652681 | Idiopathic subglottic stenosis | +| Orphanet:648681 | Immune-mediated scleritis | +| Orphanet:34145 | Immunoglobulin A nephropathy | +| Orphanet:641343 | Imprinting disorders | +| Orphanet:648665 | Infectious scleritis | +| Orphanet:656135 | Intellectual disability-cupped ears syndrome | +| Orphanet:646113 | Intermediate collagen VI-related muscular dystrophy | +| Orphanet:645359 | Intramedullary non-dysraphic spinal cord lipoma | +| Orphanet:645325 | Isolated filum lipoma | +| Orphanet:649029 | Isolated left bronchial isomerism | +| Orphanet:647782 | Isolated micronodular adrenocortical disease | +| Orphanet:637064 | Isolated optic nerve aplasia | +| Orphanet:637061 | Isolated optic nerve hypoplasia | +| Orphanet:647772 | Isolated primary pigmented nodular adrenocortical disease | +| Orphanet:658574 | Isolated pulmonary artery sling | +| Orphanet:645322 | Isolated transitional filum lipoma | +| Orphanet:653767 | Jansen-de Vries syndrome | +| Orphanet:647815 | Keratoendotheliitis fugax hereditaria | +| Orphanet:522534 | Lacrimal drainage system anomaly of genetic origin | +| Orphanet:522552 | Lens position anomaly of genetic origin | +| Orphanet:522550 | Lens size anomaly of genetic origin | +| Orphanet:645196 | Limited dorsal myeloschisis | +| Orphanet:645300 | Lipomatous non-saccular limited dorsal myeloschisis | +| Orphanet:653698 | Lymphocytic mastitis | +| Orphanet:647667 | Mandibuloacral dysplasia associated to MTX2 | +| Orphanet:658813 | Methylenetetrahydrofolate dehydrogenase 1 deficiency | +| Orphanet:653880 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | +| Orphanet:652658 | Monomorphic epitheliotropic intestinal T-cell lymphoma | +| Orphanet:645378 | Myelic limited dorsal malformation | +| Orphanet:645398 | Myeloschisis | +| Orphanet:652650 | Nodal T-follicular helper cell lymphoma, follicular type | +| Orphanet:650102 | Non-genetic central precocious puberty in male | +| Orphanet:645343 | Non-saccular limited dorsal myeloschisis | +| Orphanet:648992 | Non-syndromic bridging bronchus | +| Orphanet:649010 | Non-syndromic congenital bronchial atresia | +| Orphanet:652528 | Non-syndromic supernumerary kidneys | +| Orphanet:658612 | Non-transplant-related bronchiolitis obliterans | +| Orphanet:2729 | Okamoto syndrome | +| Orphanet:645270 | Open spinal dysraphism with a posterior meningocele | +| Orphanet:641380 | PAPASH syndrome | +| Orphanet:641385 | PASS syndrome | +| Orphanet:656130 | PBX1-related congenital anomalies of kidney and urinary tract syndrome | +| Orphanet:658913 | Paragonimiasis | +| Orphanet:652522 | Periodic fever-immunodeficiency-thrombocytopenia syndrome | +| Orphanet:645294 | Posterior extramedullary conus spinal cord lipoma | +| Orphanet:650087 | Primary central precocious puberty in male | +| Orphanet:652678 | Primary inferior vena cava aneurysm | +| Orphanet:652668 | Primary superior vena cava aneurysm | +| Orphanet:530298 | Progressive myoclonic epilepsy with neuroserpin inclusion bodies | +| Orphanet:641390 | PsAPASH syndrome | +| Orphanet:649017 | Rare adrenocortical nodular disease | +| Orphanet:647768 | Rare adrenocortical nodular disease with Cushing syndrome as a major feature | +| Orphanet:650063 | Rare central precocious puberty | +| Orphanet:650070 | Rare central precocious puberty in female | +| Orphanet:617313 | Rare disorder due to inadequate sharing of the placenta | +| Orphanet:617310 | Rare disorder due to unbalanced inter-twin blood transfusion | +| Orphanet:519288 | Rare disorder with corneal involvement as a major feature | +| Orphanet:519296 | Rare disorder with pigmented sclera | +| Orphanet:522506 | Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | +| Orphanet:522532 | Rare genetic disorder of the lacrimal apparatus | +| Orphanet:522558 | Rare genetic disorder with corneal involvement as a major feature | +| Orphanet:522530 | Rare genetic disorder with entropion | +| Orphanet:522546 | Rare genetic disorder with lens opacification | +| Orphanet:522518 | Rare genetic disorder with strabismus | +| Orphanet:522528 | Rare genetic eyelid malposition disorder | +| Orphanet:522566 | Rare genetic inflammatory/autoimmune corneal disorder | +| Orphanet:522574 | Rare genetic macular disorder | +| Orphanet:522522 | Rare genetic neuromuscular disorder with ocular motility/alignment anomaly | +| Orphanet:522516 | Rare genetic ocular motility/alignment disorder | +| Orphanet:522508 | Rare genetic ophthalmic disorder with cortical involvement | +| Orphanet:522510 | Rare genetic ophthalmic disorder with cranial nerve involvement | +| Orphanet:522512 | Rare genetic optic nerve disorder | +| Orphanet:522526 | Rare genetic palpebral disorder | +| Orphanet:522576 | Rare genetic retinal vasculopathy | +| Orphanet:619238 | Rare hereditary autoinflammatory disease | +| Orphanet:519290 | Rare inflammatory/autoimmune corneal disorder | +| Orphanet:519313 | Rare macular disorder | +| Orphanet:650187 | Rare peripheral precocious puberty in female | +| Orphanet:519317 | Rare retinal vasculopathy | +| Orphanet:648559 | Rare scleritis | +| Orphanet:519353 | Rare trochlear nerve disorder | +| Orphanet:645334 | Retained medullary cord | +| Orphanet:658584 | Rowell syndrome | +| Orphanet:647834 | SLC40A1-related hemochromatosis | +| Orphanet:645354 | Saccular limited dorsal myeloschisis | +| Orphanet:645319 | Saccular spinal dysraphism with a stalk to the dome | +| Orphanet:650082 | Secondary central precocious puberty in female | +| Orphanet:650092 | Secondary central precocious puberty in male | +| Orphanet:656126 | Segmental spinal dysgenesis | +| Orphanet:645188 | Spinal dermal sinus | +| Orphanet:519321 | Syndromic chorioretinal dystrophy | +| Orphanet:522548 | Syndromic genetic cataract | +| Orphanet:522520 | Syndromic genetic disorder with strabismus | +| Orphanet:522554 | Syndromic genetic ectopia lentis | +| Orphanet:522564 | Syndromic genetic keratoconus | +| Orphanet:645288 | Terminal extramedullary conus spinal cord lipoma | +| Orphanet:645337 | Terminal myelocystocele | +| Orphanet:645291 | Transitional extramedullary conus spinal cord lipoma | +| Orphanet:658602 | Transplant-related bronchiolitis obliterans | +| Orphanet:645401 | True myeloschisis | +| Orphanet:324953 | Unclassified autoinflammatory syndrome of childhood | +| Orphanet:324960 | Unexplained periodic fever syndrome of childhood | +| Orphanet:653751 | X-linked combined immunodeficiency due to SASH3 deficiency | \ No newline at end of file diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index 81416eac..bf5c732b 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -1,25 +1,25 @@ -# creator_id: https://orcid.org/0000-0002-2906-7319 +# creator_id: +# - https://orcid.org/0000-0002-2906-7319 # curie_map: # DOID: http://purl.obolibrary.org/obo/DOID_ # EFO: http://www.ebi.ac.uk/efo/EFO_ # ENVO: http://purl.obolibrary.org/obo/ENVO_ # ExO: http://purl.obolibrary.org/obo/ExO_ -# GARD: 'https://bioregistry.io/reference/gard:' +# GARD: 'https://bioregistry.io/gard:' # ICD10CM: https://icd.codes/icd10cm/ # ICD9CM: https://icd.codes/icd9cm/ -# ICD9CM_2005: https://icd.codes/icd9cm/ -# ICDO: 'https://bioregistry.io/reference/gard:' +# ICDO: 'https://bioregistry.io/icdo:' # KEGG: http://www.kegg.jp/entry/ # MEDDRA: https://identifiers.org/meddra/ # MESH: https://meshb.nlm.nih.gov/record/ui?ui= # NCI: http://purl.obolibrary.org/obo/NCIT_ # OMIM: https://omim.org/entry/ # OMIMPS: https://www.omim.org/phenotypicSeries/PS -# OMIT: http://purl.obolibrary.org/obo/ENVO_ +# OMIT: http://purl.obolibrary.org/obo/OMIT_ # ORDO: http://www.orpha.net/ORDO/Orphanet_ -# SNOMEDCT_US_2023_02_28: http://identifiers.org/snomedct/ +# SNOMEDCT_US_2020_03_01: http://identifiers.org/snomedct/ # SYMP: http://purl.obolibrary.org/obo/SYMP_ -# UMLS_CUI: http://linkedlifedata.com/resource/umls/id/ +# UMLS: http://linkedlifedata.com/resource/umls/id/ # oboInOwl: http://www.geneontology.org/formats/oboInOwl# # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# @@ -37,79 +37,79 @@ DOID:0001816 angiosarcoma oboInOwl:hasDbXref ICDO:9120/3 semapv:UnspecifiedMatch DOID:0001816 angiosarcoma oboInOwl:hasDbXref MESH:D006394 semapv:UnspecifiedMatching DOID:0001816 angiosarcoma oboInOwl:hasDbXref NCI:C3088 semapv:UnspecifiedMatching DOID:0001816 angiosarcoma oboInOwl:hasDbXref NCI:C9275 semapv:UnspecifiedMatching -DOID:0001816 angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0018923 semapv:UnspecifiedMatching -DOID:0001816 angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0854893 semapv:UnspecifiedMatching -DOID:0002116 pterygium oboInOwl:hasDbXref UMLS_CUI:C0033999 semapv:UnspecifiedMatching +DOID:0001816 angiosarcoma oboInOwl:hasDbXref UMLS:C0018923 semapv:UnspecifiedMatching +DOID:0001816 angiosarcoma oboInOwl:hasDbXref UMLS:C0854893 semapv:UnspecifiedMatching +DOID:0002116 pterygium oboInOwl:hasDbXref UMLS:C0033999 semapv:UnspecifiedMatching DOID:0014667 disease of metabolism oboInOwl:hasDbXref ICD10CM:E88.9 semapv:UnspecifiedMatching DOID:0014667 disease of metabolism oboInOwl:hasDbXref ICD9CM:277.9 semapv:UnspecifiedMatching DOID:0014667 disease of metabolism oboInOwl:hasDbXref MESH:D008659 semapv:UnspecifiedMatching DOID:0014667 disease of metabolism oboInOwl:hasDbXref NCI:C3235 semapv:UnspecifiedMatching -DOID:0014667 disease of metabolism oboInOwl:hasDbXref UMLS_CUI:C0025517 semapv:UnspecifiedMatching -DOID:0040002 aspirin allergy oboInOwl:hasDbXref UMLS_CUI:C0004058 semapv:UnspecifiedMatching -DOID:0040003 benzylpenicillin allergy oboInOwl:hasDbXref UMLS_CUI:C0571411 semapv:UnspecifiedMatching -DOID:0040004 amoxicillin allergy oboInOwl:hasDbXref UMLS_CUI:C0571417 semapv:UnspecifiedMatching -DOID:0040005 ceftriaxone allergy oboInOwl:hasDbXref UMLS_CUI:C0571463 semapv:UnspecifiedMatching -DOID:0040006 carbamazepine allergy oboInOwl:hasDbXref UMLS_CUI:C0570787 semapv:UnspecifiedMatching +DOID:0014667 disease of metabolism oboInOwl:hasDbXref UMLS:C0025517 semapv:UnspecifiedMatching +DOID:0040002 aspirin allergy oboInOwl:hasDbXref UMLS:C0004058 semapv:UnspecifiedMatching +DOID:0040003 benzylpenicillin allergy oboInOwl:hasDbXref UMLS:C0571411 semapv:UnspecifiedMatching +DOID:0040004 amoxicillin allergy oboInOwl:hasDbXref UMLS:C0571417 semapv:UnspecifiedMatching +DOID:0040005 ceftriaxone allergy oboInOwl:hasDbXref UMLS:C0571463 semapv:UnspecifiedMatching +DOID:0040006 carbamazepine allergy oboInOwl:hasDbXref UMLS:C0570787 semapv:UnspecifiedMatching DOID:0040008 isoniazide allergy oboInOwl:hasDbXref ICD10CM:Z88.1 semapv:UnspecifiedMatching -DOID:0040009 lidocaine allergy oboInOwl:hasDbXref UMLS_CUI:C0570646 semapv:UnspecifiedMatching +DOID:0040009 lidocaine allergy oboInOwl:hasDbXref UMLS:C0570646 semapv:UnspecifiedMatching DOID:0040010 mepivacaine allergy oboInOwl:hasDbXref ICD10CM:Z88.4 semapv:UnspecifiedMatching -DOID:0040011 phenobarbital allergy oboInOwl:hasDbXref UMLS_CUI:C0570785 semapv:UnspecifiedMatching -DOID:0040012 phenytoin allergy oboInOwl:hasDbXref UMLS_CUI:C0570789 semapv:UnspecifiedMatching -DOID:0040013 ranitidine allergy oboInOwl:hasDbXref UMLS_CUI:C0570577 semapv:UnspecifiedMatching -DOID:0040015 sulfonamide allergy oboInOwl:hasDbXref UMLS_CUI:C0038757 semapv:UnspecifiedMatching -DOID:0040018 thiopental allergy oboInOwl:hasDbXref UMLS_CUI:C0570633 semapv:UnspecifiedMatching -DOID:0040019 D-mannitol allergy oboInOwl:hasDbXref UMLS_CUI:C0571922 semapv:UnspecifiedMatching -DOID:0040020 cefotaxime allergy oboInOwl:hasDbXref UMLS_CUI:C0571457 semapv:UnspecifiedMatching -DOID:0040021 cephalosporin allergy oboInOwl:hasDbXref UMLS_CUI:C0571444 semapv:UnspecifiedMatching -DOID:0040022 amodiaquine allergy oboInOwl:hasDbXref UMLS_CUI:C0571303 semapv:UnspecifiedMatching -DOID:0040023 cefaclor allergy oboInOwl:hasDbXref UMLS_CUI:C0571453 semapv:UnspecifiedMatching -DOID:0040024 ceftazidime allergy oboInOwl:hasDbXref UMLS_CUI:C0571458 semapv:UnspecifiedMatching -DOID:0040025 cefuroxime allergy oboInOwl:hasDbXref UMLS_CUI:C0571454 semapv:UnspecifiedMatching -DOID:0040026 chlorhexidine allergy oboInOwl:hasDbXref UMLS_CUI:C0571344 semapv:UnspecifiedMatching -DOID:0040027 cyclophosphamide allergy oboInOwl:hasDbXref UMLS_CUI:C0570670 semapv:UnspecifiedMatching -DOID:0040028 succinylcholine allergy oboInOwl:hasDbXref UMLS_CUI:C0571140 semapv:UnspecifiedMatching -DOID:0040029 trimethoprim allergy oboInOwl:hasDbXref UMLS_CUI:C0571390 semapv:UnspecifiedMatching -DOID:0040030 cefixime allergy oboInOwl:hasDbXref UMLS_CUI:C0571460 semapv:UnspecifiedMatching -DOID:0040031 diclofenac allergy oboInOwl:hasDbXref UMLS_CUI:C0570540 semapv:UnspecifiedMatching -DOID:0040032 carbapenem allergy oboInOwl:hasDbXref UMLS_CUI:C0571443 semapv:UnspecifiedMatching -DOID:0040033 piperacillin allergy oboInOwl:hasDbXref UMLS_CUI:C0571427 semapv:UnspecifiedMatching -DOID:0040034 rocuronium allergy oboInOwl:hasDbXref UMLS_CUI:C0571149 semapv:UnspecifiedMatching -DOID:0040035 sulfasalazine allergy oboInOwl:hasDbXref UMLS_CUI:C0570587 semapv:UnspecifiedMatching -DOID:0040036 tubocurarine allergy oboInOwl:hasDbXref UMLS_CUI:C0571147 semapv:UnspecifiedMatching -DOID:0040037 aztreonam allergy oboInOwl:hasDbXref UMLS_CUI:C0571476 semapv:UnspecifiedMatching +DOID:0040011 phenobarbital allergy oboInOwl:hasDbXref UMLS:C0570785 semapv:UnspecifiedMatching +DOID:0040012 phenytoin allergy oboInOwl:hasDbXref UMLS:C0570789 semapv:UnspecifiedMatching +DOID:0040013 ranitidine allergy oboInOwl:hasDbXref UMLS:C0570577 semapv:UnspecifiedMatching +DOID:0040015 sulfonamide allergy oboInOwl:hasDbXref UMLS:C0038757 semapv:UnspecifiedMatching +DOID:0040018 thiopental allergy oboInOwl:hasDbXref UMLS:C0570633 semapv:UnspecifiedMatching +DOID:0040019 D-mannitol allergy oboInOwl:hasDbXref UMLS:C0571922 semapv:UnspecifiedMatching +DOID:0040020 cefotaxime allergy oboInOwl:hasDbXref UMLS:C0571457 semapv:UnspecifiedMatching +DOID:0040021 cephalosporin allergy oboInOwl:hasDbXref UMLS:C0571444 semapv:UnspecifiedMatching +DOID:0040022 amodiaquine allergy oboInOwl:hasDbXref UMLS:C0571303 semapv:UnspecifiedMatching +DOID:0040023 cefaclor allergy oboInOwl:hasDbXref UMLS:C0571453 semapv:UnspecifiedMatching +DOID:0040024 ceftazidime allergy oboInOwl:hasDbXref UMLS:C0571458 semapv:UnspecifiedMatching +DOID:0040025 cefuroxime allergy oboInOwl:hasDbXref UMLS:C0571454 semapv:UnspecifiedMatching +DOID:0040026 chlorhexidine allergy oboInOwl:hasDbXref UMLS:C0571344 semapv:UnspecifiedMatching +DOID:0040027 cyclophosphamide allergy oboInOwl:hasDbXref UMLS:C0570670 semapv:UnspecifiedMatching +DOID:0040028 succinylcholine allergy oboInOwl:hasDbXref UMLS:C0571140 semapv:UnspecifiedMatching +DOID:0040029 trimethoprim allergy oboInOwl:hasDbXref UMLS:C0571390 semapv:UnspecifiedMatching +DOID:0040030 cefixime allergy oboInOwl:hasDbXref UMLS:C0571460 semapv:UnspecifiedMatching +DOID:0040031 diclofenac allergy oboInOwl:hasDbXref UMLS:C0570540 semapv:UnspecifiedMatching +DOID:0040032 carbapenem allergy oboInOwl:hasDbXref UMLS:C0571443 semapv:UnspecifiedMatching +DOID:0040033 piperacillin allergy oboInOwl:hasDbXref UMLS:C0571427 semapv:UnspecifiedMatching +DOID:0040034 rocuronium allergy oboInOwl:hasDbXref UMLS:C0571149 semapv:UnspecifiedMatching +DOID:0040035 sulfasalazine allergy oboInOwl:hasDbXref UMLS:C0570587 semapv:UnspecifiedMatching +DOID:0040036 tubocurarine allergy oboInOwl:hasDbXref UMLS:C0571147 semapv:UnspecifiedMatching +DOID:0040037 aztreonam allergy oboInOwl:hasDbXref UMLS:C0571476 semapv:UnspecifiedMatching DOID:0040046 nickel allergic contact dermatitis oboInOwl:hasDbXref ICD10CM:L23.0 semapv:UnspecifiedMatching DOID:0040056 chromium allergic contact dermatitis oboInOwl:hasDbXref ICD10CM:L23.0 semapv:UnspecifiedMatching -DOID:0040057 benzoic acid allergic contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0571102 semapv:UnspecifiedMatching -DOID:0040060 ketoprofen photoallergic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0570547 semapv:UnspecifiedMatching -DOID:0040065 quinidine allergy oboInOwl:hasDbXref UMLS_CUI:C0571881 semapv:UnspecifiedMatching -DOID:0040066 melphalan allergy oboInOwl:hasDbXref UMLS_CUI:C0570673 semapv:UnspecifiedMatching -DOID:0040067 neomycin sulfate allergic contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C1443961 semapv:UnspecifiedMatching -DOID:0040070 co-trimoxazole allergy oboInOwl:hasDbXref UMLS_CUI:C0571504 semapv:UnspecifiedMatching -DOID:0040071 sodium aurothiomalate allergy oboInOwl:hasDbXref UMLS_CUI:C0571155 semapv:UnspecifiedMatching -DOID:0040074 formaldehyde allergic contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0571339 semapv:UnspecifiedMatching -DOID:0040076 phthalyl group allergy oboInOwl:hasDbXref UMLS_CUI:C0571482 semapv:UnspecifiedMatching -DOID:0040078 gallamine allergy oboInOwl:hasDbXref UMLS_CUI:C0571145 semapv:UnspecifiedMatching +DOID:0040057 benzoic acid allergic contact dermatitis oboInOwl:hasDbXref UMLS:C0571102 semapv:UnspecifiedMatching +DOID:0040060 ketoprofen photoallergic dermatitis oboInOwl:hasDbXref UMLS:C0570547 semapv:UnspecifiedMatching +DOID:0040065 quinidine allergy oboInOwl:hasDbXref UMLS:C0571881 semapv:UnspecifiedMatching +DOID:0040066 melphalan allergy oboInOwl:hasDbXref UMLS:C0570673 semapv:UnspecifiedMatching +DOID:0040067 neomycin sulfate allergic contact dermatitis oboInOwl:hasDbXref UMLS:C1443961 semapv:UnspecifiedMatching +DOID:0040070 co-trimoxazole allergy oboInOwl:hasDbXref UMLS:C0571504 semapv:UnspecifiedMatching +DOID:0040071 sodium aurothiomalate allergy oboInOwl:hasDbXref UMLS:C0571155 semapv:UnspecifiedMatching +DOID:0040074 formaldehyde allergic contact dermatitis oboInOwl:hasDbXref UMLS:C0571339 semapv:UnspecifiedMatching +DOID:0040076 phthalyl group allergy oboInOwl:hasDbXref UMLS:C0571482 semapv:UnspecifiedMatching +DOID:0040078 gallamine allergy oboInOwl:hasDbXref UMLS:C0571145 semapv:UnspecifiedMatching DOID:0040083 Chlamydia pneumonia oboInOwl:hasDbXref ICD10CM:J16.0 semapv:UnspecifiedMatching DOID:0040083 Chlamydia pneumonia oboInOwl:hasDbXref ICD9CM:483.1 semapv:UnspecifiedMatching DOID:0040084 Streptococcus pneumonia oboInOwl:hasDbXref ICD10CM:J13 semapv:UnspecifiedMatching DOID:0040084 Streptococcus pneumonia oboInOwl:hasDbXref ICD9CM:481 semapv:UnspecifiedMatching DOID:0040085 bacterial sepsis oboInOwl:hasDbXref ICD9CM:995.91 semapv:UnspecifiedMatching -DOID:0040086 Polyomavirus-associated nephropathy oboInOwl:hasDbXref UMLS_CUI:C1697878 semapv:UnspecifiedMatching +DOID:0040086 Polyomavirus-associated nephropathy oboInOwl:hasDbXref UMLS:C1697878 semapv:UnspecifiedMatching DOID:0040091 autoimmune pancreatitis oboInOwl:hasDbXref MESH:D000081012 semapv:UnspecifiedMatching -DOID:0040091 autoimmune pancreatitis oboInOwl:hasDbXref UMLS_CUI:C2609129 semapv:UnspecifiedMatching +DOID:0040091 autoimmune pancreatitis oboInOwl:hasDbXref UMLS:C2609129 semapv:UnspecifiedMatching DOID:0040091 autoimmune pancreatitis skos:exactMatch MESH:D000081012 semapv:UnspecifiedMatching DOID:0040092 juvenile ankylosing spondylitis oboInOwl:hasDbXref ICD10CM:M08.1 semapv:UnspecifiedMatching -DOID:0040092 juvenile ankylosing spondylitis oboInOwl:hasDbXref UMLS_CUI:C0409675 semapv:UnspecifiedMatching +DOID:0040092 juvenile ankylosing spondylitis oboInOwl:hasDbXref UMLS:C0409675 semapv:UnspecifiedMatching DOID:0040093 drug-induced lupus erythematosus oboInOwl:hasDbXref ICD10CM:M32.0 semapv:UnspecifiedMatching DOID:0040093 drug-induced lupus erythematosus oboInOwl:hasDbXref NCI:C114354 semapv:UnspecifiedMatching DOID:0040093 drug-induced lupus erythematosus oboInOwl:hasDbXref ORDO:231111 semapv:UnspecifiedMatching -DOID:0040093 drug-induced lupus erythematosus oboInOwl:hasDbXref UMLS_CUI:C0263591 semapv:UnspecifiedMatching -DOID:0040097 autoimmune vasculitis oboInOwl:hasDbXref UMLS_CUI:C1328843 semapv:UnspecifiedMatching +DOID:0040093 drug-induced lupus erythematosus oboInOwl:hasDbXref UMLS:C0263591 semapv:UnspecifiedMatching +DOID:0040097 autoimmune vasculitis oboInOwl:hasDbXref UMLS:C1328843 semapv:UnspecifiedMatching DOID:0040098 pemphigus gestationis oboInOwl:hasDbXref ICD10CM:O26.4 semapv:UnspecifiedMatching DOID:0040099 livedoid vasculitis oboInOwl:hasDbXref ICD10CM:L95.0 semapv:UnspecifiedMatching DOID:0040099 livedoid vasculitis oboInOwl:hasDbXref ICD9CM:709.1 semapv:UnspecifiedMatching -DOID:0040100 Hirata disease oboInOwl:hasDbXref UMLS_CUI:C0854359 semapv:UnspecifiedMatching -DOID:0050004 seminal vesicle acute gonorrhea oboInOwl:hasDbXref UMLS_CUI:C0578661 semapv:UnspecifiedMatching +DOID:0040100 Hirata disease oboInOwl:hasDbXref UMLS:C0854359 semapv:UnspecifiedMatching +DOID:0050004 seminal vesicle acute gonorrhea oboInOwl:hasDbXref UMLS:C0578661 semapv:UnspecifiedMatching DOID:0050012 chikungunya oboInOwl:hasDbXref GARD:6038 semapv:UnspecifiedMatching DOID:0050026 human monocytic ehrlichiosis oboInOwl:hasDbXref GARD:72 semapv:UnspecifiedMatching DOID:0050052 Rocky Mountain spotted fever oboInOwl:hasDbXref GARD:7585 semapv:UnspecifiedMatching @@ -120,27 +120,27 @@ DOID:0050083 Keshan disease oboInOwl:hasDbXref GARD:8761 semapv:UnspecifiedMatch DOID:0050083 Keshan disease oboInOwl:hasDbXref MESH:C536166 semapv:UnspecifiedMatching DOID:0050096 tinea barbae oboInOwl:hasDbXref MESH:C000656825 semapv:UnspecifiedMatching DOID:0050117 disease by infectious agent oboInOwl:hasDbXref ICD9CM:079.0 semapv:UnspecifiedMatching -DOID:0050117 disease by infectious agent oboInOwl:hasDbXref UMLS_CUI:C0001485 semapv:UnspecifiedMatching +DOID:0050117 disease by infectious agent oboInOwl:hasDbXref UMLS:C0001485 semapv:UnspecifiedMatching DOID:0050118 La Crosse encephalitis oboInOwl:hasDbXref ICD10CM:A83.5 semapv:UnspecifiedMatching DOID:0050118 La Crosse encephalitis oboInOwl:hasDbXref ICD9CM:062.5 semapv:UnspecifiedMatching DOID:0050118 La Crosse encephalitis oboInOwl:hasDbXref MESH:D004670 semapv:UnspecifiedMatching -DOID:0050118 La Crosse encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014053 semapv:UnspecifiedMatching +DOID:0050118 La Crosse encephalitis oboInOwl:hasDbXref UMLS:C0014053 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref GARD:6589 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10CM:D76.1 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MESH:D051359 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref NCI:C34792 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIMPS:267700 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ORDO:540 semapv:UnspecifiedMatching -DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS_CUI:C0024291 semapv:UnspecifiedMatching +DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0024291 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis skos:exactMatch OMIMPS:267700 semapv:UnspecifiedMatching DOID:0050127 sinusitis oboInOwl:hasDbXref ICD10CM:J01 semapv:UnspecifiedMatching DOID:0050127 sinusitis oboInOwl:hasDbXref ICD9CM:461 semapv:UnspecifiedMatching DOID:0050127 sinusitis oboInOwl:hasDbXref NCI:C128411 semapv:UnspecifiedMatching -DOID:0050127 sinusitis oboInOwl:hasDbXref UMLS_CUI:C0149512 semapv:UnspecifiedMatching +DOID:0050127 sinusitis oboInOwl:hasDbXref UMLS:C0149512 semapv:UnspecifiedMatching DOID:0050133 superficial mycosis oboInOwl:hasDbXref ICD10CM:B36.9 semapv:UnspecifiedMatching DOID:0050133 superficial mycosis oboInOwl:hasDbXref MESH:D010854 semapv:UnspecifiedMatching -DOID:0050133 superficial mycosis oboInOwl:hasDbXref UMLS_CUI:C0031898 semapv:UnspecifiedMatching -DOID:0050133 superficial mycosis oboInOwl:hasDbXref UMLS_CUI:C2980104 semapv:UnspecifiedMatching +DOID:0050133 superficial mycosis oboInOwl:hasDbXref UMLS:C0031898 semapv:UnspecifiedMatching +DOID:0050133 superficial mycosis oboInOwl:hasDbXref UMLS:C2980104 semapv:UnspecifiedMatching DOID:0050138 podoconiosis oboInOwl:hasDbXref MESH:D004604 semapv:UnspecifiedMatching DOID:0050144 Kartagener syndrome oboInOwl:hasDbXref GARD:6815 semapv:UnspecifiedMatching DOID:0050144 Kartagener syndrome oboInOwl:hasDbXref MESH:D007619 semapv:UnspecifiedMatching @@ -148,17 +148,17 @@ DOID:0050144 Kartagener syndrome oboInOwl:hasDbXref NCI:C84797 semapv:Unspecifie DOID:0050144 Kartagener syndrome oboInOwl:hasDbXref ORDO:98861 semapv:UnspecifiedMatching DOID:0050145 adenoiditis oboInOwl:hasDbXref ICD10CM:J35.02 semapv:UnspecifiedMatching DOID:0050145 adenoiditis oboInOwl:hasDbXref ICD9CM:474.01 semapv:UnspecifiedMatching -DOID:0050145 adenoiditis oboInOwl:hasDbXref UMLS_CUI:C0396023 semapv:UnspecifiedMatching +DOID:0050145 adenoiditis oboInOwl:hasDbXref UMLS:C0396023 semapv:UnspecifiedMatching DOID:0050147 otomycosis oboInOwl:hasDbXref MESH:D059249 semapv:UnspecifiedMatching DOID:0050148 laryngotracheitis oboInOwl:hasDbXref ICD10CM:J04 semapv:UnspecifiedMatching DOID:0050148 laryngotracheitis oboInOwl:hasDbXref ICD10CM:J37.1 semapv:UnspecifiedMatching DOID:0050148 laryngotracheitis oboInOwl:hasDbXref ICD9CM:464 semapv:UnspecifiedMatching DOID:0050148 laryngotracheitis oboInOwl:hasDbXref ICD9CM:476.1 semapv:UnspecifiedMatching -DOID:0050148 laryngotracheitis oboInOwl:hasDbXref UMLS_CUI:C0155811 semapv:UnspecifiedMatching -DOID:0050148 laryngotracheitis oboInOwl:hasDbXref UMLS_CUI:C0155837 semapv:UnspecifiedMatching +DOID:0050148 laryngotracheitis oboInOwl:hasDbXref UMLS:C0155811 semapv:UnspecifiedMatching +DOID:0050148 laryngotracheitis oboInOwl:hasDbXref UMLS:C0155837 semapv:UnspecifiedMatching DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref ICD10CM:J69.0 semapv:UnspecifiedMatching DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref MESH:D011015 semapv:UnspecifiedMatching -DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032290 semapv:UnspecifiedMatching +DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref UMLS:C0032290 semapv:UnspecifiedMatching DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref EFO:0000768 semapv:UnspecifiedMatching DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref GARD:8609 semapv:UnspecifiedMatching DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10CM:J84.112 semapv:UnspecifiedMatching @@ -166,28 +166,28 @@ DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD9CM:516.31 sema DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref NCI:C35716 semapv:UnspecifiedMatching DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C1800706 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching DOID:0050156 idiopathic pulmonary fibrosis skos:exactMatch OMIM:178500 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref GARD:1620 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10CM:J84.116 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD9CM:516.36 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref MESH:D018549 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref NCI:C62586 semapv:UnspecifiedMatching -DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref UMLS_CUI:C0242770 semapv:UnspecifiedMatching +DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref UMLS:C0242770 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84.117 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref ICD9CM:516.37 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref MESH:C562470 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref NCI:C35288 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref OMIM:263000 semapv:UnspecifiedMatching -DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C0238378 semapv:UnspecifiedMatching +DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS:C0238378 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia skos:exactMatch OMIM:263000 semapv:UnspecifiedMatching DOID:0050159 lymphoid interstitial pneumonia oboInOwl:hasDbXref MESH:C562489 semapv:UnspecifiedMatching DOID:0050160 inhalation anthrax oboInOwl:hasDbXref MESH:C571912 semapv:UnspecifiedMatching DOID:0050161 lower respiratory tract disease oboInOwl:hasDbXref ICD9CM:478.19 semapv:UnspecifiedMatching -DOID:0050161 lower respiratory tract disease oboInOwl:hasDbXref UMLS_CUI:C0029581 semapv:UnspecifiedMatching +DOID:0050161 lower respiratory tract disease oboInOwl:hasDbXref UMLS:C0029581 semapv:UnspecifiedMatching DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref ICD10CM:A18.17 semapv:UnspecifiedMatching DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref ICD9CM:016.6 semapv:UnspecifiedMatching -DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref UMLS_CUI:C0152828 semapv:UnspecifiedMatching +DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref UMLS:C0152828 semapv:UnspecifiedMatching DOID:0050167 autoimmune polyendocrine syndrome type 1 oboInOwl:hasDbXref GARD:8466 semapv:UnspecifiedMatching DOID:0050167 autoimmune polyendocrine syndrome type 1 oboInOwl:hasDbXref OMIM:240300 semapv:UnspecifiedMatching DOID:0050167 autoimmune polyendocrine syndrome type 1 skos:exactMatch OMIM:240300 semapv:UnspecifiedMatching @@ -199,14 +199,14 @@ DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref GARD:5216 semapv:Unspeci DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref ICD10CM:A84.1 semapv:UnspecifiedMatching DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref ICD9CM:063.2 semapv:UnspecifiedMatching DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref MESH:D004675 semapv:UnspecifiedMatching -DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014054 semapv:UnspecifiedMatching +DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref UMLS:C0014054 semapv:UnspecifiedMatching DOID:0050185 erythema multiforme oboInOwl:hasDbXref GARD:6372 semapv:UnspecifiedMatching DOID:0050185 erythema multiforme oboInOwl:hasDbXref MESH:D004892 semapv:UnspecifiedMatching DOID:0050214 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD10CM:G70.80 semapv:UnspecifiedMatching DOID:0050214 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD9CM:358.3 semapv:UnspecifiedMatching DOID:0050214 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MESH:D015624 semapv:UnspecifiedMatching DOID:0050214 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref NCI:C3155 semapv:UnspecifiedMatching -DOID:0050214 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref UMLS_CUI:C0022972 semapv:UnspecifiedMatching +DOID:0050214 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref UMLS:C0022972 semapv:UnspecifiedMatching DOID:0050242 primary amebic meningoencephalitis oboInOwl:hasDbXref GARD:9554 semapv:UnspecifiedMatching DOID:0050246 granulomatous amebic encephalitis oboInOwl:hasDbXref GARD:12651 semapv:UnspecifiedMatching DOID:0050256 angiostrongyliasis oboInOwl:hasDbXref GARD:683 semapv:UnspecifiedMatching @@ -227,8 +227,8 @@ DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref MESH:D003409 semapv:Un DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref NCI:C26734 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref NCI:C98921 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref OMIMPS:275200 semapv:UnspecifiedMatching -DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0010308 semapv:UnspecifiedMatching -DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0342200 semapv:UnspecifiedMatching +DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref UMLS:C0010308 semapv:UnspecifiedMatching +DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref UMLS:C0342200 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism skos:exactMatch OMIMPS:275200 semapv:UnspecifiedMatching DOID:0050331 lacrimoauriculodentodigital syndrome 1 oboInOwl:hasDbXref OMIM:149730 semapv:UnspecifiedMatching DOID:0050331 lacrimoauriculodentodigital syndrome 1 skos:exactMatch OMIM:149730 semapv:UnspecifiedMatching @@ -237,7 +237,7 @@ DOID:0050335 bradyopsia oboInOwl:hasDbXref GARD:12299 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref MESH:C564243 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref OMIMPS:608415 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref ORDO:75374 semapv:UnspecifiedMatching -DOID:0050335 bradyopsia oboInOwl:hasDbXref UMLS_CUI:C1842073 semapv:UnspecifiedMatching +DOID:0050335 bradyopsia oboInOwl:hasDbXref UMLS:C1842073 semapv:UnspecifiedMatching DOID:0050335 bradyopsia skos:exactMatch OMIMPS:608415 semapv:UnspecifiedMatching DOID:0050336 hypophosphatemia oboInOwl:hasDbXref MESH:D017674 semapv:UnspecifiedMatching DOID:0050387 nonpapillary renal cell carcinoma oboInOwl:hasDbXref OMIM:144700 semapv:UnspecifiedMatching @@ -250,7 +250,7 @@ DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref MESH:D011125 sema DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref NCI:C3339 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref OMIMPS:175100 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref ORDO:733 semapv:UnspecifiedMatching -DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref UMLS_CUI:C0032580 semapv:UnspecifiedMatching +DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C0032580 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis skos:exactMatch OMIMPS:175100 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref EFO:0004270 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref GARD:11926 semapv:UnspecifiedMatching @@ -259,7 +259,7 @@ DOID:0050425 restless legs syndrome oboInOwl:hasDbXref ICD9CM:333.94 semapv:Unsp DOID:0050425 restless legs syndrome oboInOwl:hasDbXref MESH:D012148 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref NCI:C84501 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref OMIMPS:102300 semapv:UnspecifiedMatching -DOID:0050425 restless legs syndrome oboInOwl:hasDbXref UMLS_CUI:C0035258 semapv:UnspecifiedMatching +DOID:0050425 restless legs syndrome oboInOwl:hasDbXref UMLS:C0035258 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome skos:exactMatch OMIMPS:102300 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref EFO:0004276 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref GARD:7700 semapv:UnspecifiedMatching @@ -267,27 +267,27 @@ DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref ICD10CM:L51.1 semapv:Un DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref ICD9CM:695.13 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref MESH:D013262 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref NCI:C79484 semapv:UnspecifiedMatching -DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref UMLS_CUI:C0038325 semapv:UnspecifiedMatching +DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref UMLS:C0038325 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome skos:exactMatch MESH:D013262 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref GARD:7910 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref MESH:D014983 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref NCI:C3452 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref ORDO:910 semapv:UnspecifiedMatching -DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref UMLS_CUI:C0043346 semapv:UnspecifiedMatching +DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref UMLS:C0043346 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:D015776 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref NCI:C3147 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2337 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS_CUI:C0022584 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS_CUI:C3489771 semapv:UnspecifiedMatching +DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0022584 semapv:UnspecifiedMatching +DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C3489771 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref GARD:6559 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref NCI:C82865 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching -DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref UMLS_CUI:C0085106 semapv:UnspecifiedMatching +DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease skos:exactMatch OMIM:169600 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD10CM:E31.22 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD9CM:258.02 semapv:UnspecifiedMatching @@ -295,14 +295,14 @@ DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref MESH:D01881 DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref NCI:C3226 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ORDO:247698 semapv:UnspecifiedMatching -DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref UMLS_CUI:C0025268 semapv:UnspecifiedMatching +DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref UMLS:C0025268 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A skos:exactMatch OMIM:171400 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref MESH:D019571 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref NCI:C84571 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref OMIMPS:107970 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref ORDO:217656 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref ORDO:247 semapv:UnspecifiedMatching -DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0349788 semapv:UnspecifiedMatching +DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref UMLS:C0349788 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch OMIMPS:107970 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref GARD:5855 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref ICD10CM:F84.5 semapv:UnspecifiedMatching @@ -314,47 +314,47 @@ DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIM:608781 semapv:Unspecified DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIM:609954 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIMPS:608638 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref ORDO:1162 semapv:UnspecifiedMatching -DOID:0050432 Asperger syndrome oboInOwl:hasDbXref UMLS_CUI:C0236792 semapv:UnspecifiedMatching +DOID:0050432 Asperger syndrome oboInOwl:hasDbXref UMLS:C0236792 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref GARD:6429 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref ICD10CM:A81.83 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref ICD9CM:046.72 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref MESH:D034062 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref NCI:C84711 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref OMIM:600072 semapv:UnspecifiedMatching -DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref UMLS_CUI:C0206042 semapv:UnspecifiedMatching +DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref UMLS:C0206042 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia skos:exactMatch OMIM:600072 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref GARD:9453 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref MESH:D050030 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref NCI:C84559 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref OMIM:170390 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref ORDO:37553 semapv:UnspecifiedMatching -DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS_CUI:C1563715 semapv:UnspecifiedMatching +DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS:C1563715 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome skos:exactMatch OMIM:170390 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref GARD:95 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref MESH:D050336 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref NCI:C84906 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref OMIM:253250 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref ORDO:2576 semapv:UnspecifiedMatching -DOID:0050436 mulibrey nanism oboInOwl:hasDbXref UMLS_CUI:C0524582 semapv:UnspecifiedMatching +DOID:0050436 mulibrey nanism oboInOwl:hasDbXref UMLS:C0524582 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism skos:exactMatch OMIM:253250 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref GARD:9730 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref MESH:D052120 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref NCI:C84735 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching -DOID:0050437 Danon disease oboInOwl:hasDbXref UMLS_CUI:C0878677 semapv:UnspecifiedMatching +DOID:0050437 Danon disease oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching DOID:0050437 Danon disease skos:exactMatch OMIM:300257 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref GARD:2375 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref MESH:D052159 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref NCI:C122805 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref OMIM:136680 semapv:UnspecifiedMatching -DOID:0050438 Frasier syndrome oboInOwl:hasDbXref UMLS_CUI:C0950122 semapv:UnspecifiedMatching +DOID:0050438 Frasier syndrome oboInOwl:hasDbXref UMLS:C0950122 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome skos:exactMatch OMIM:136680 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref GARD:7843 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref NCI:C85217 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref OMIMPS:276900 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref ORDO:886 semapv:UnspecifiedMatching -DOID:0050439 Usher syndrome oboInOwl:hasDbXref UMLS_CUI:C0271097 semapv:UnspecifiedMatching +DOID:0050439 Usher syndrome oboInOwl:hasDbXref UMLS:C0271097 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome skos:exactMatch OMIMPS:276900 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref GARD:11962 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching @@ -362,50 +362,50 @@ DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref NCI:C165527 semap DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref NCI:C84708 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref OMIMPS:151660 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref ORDO:98306 semapv:UnspecifiedMatching -DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS_CUI:C0271694 semapv:UnspecifiedMatching -DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS_CUI:C1720859 semapv:UnspecifiedMatching -DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS_CUI:C1720860 semapv:UnspecifiedMatching -DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS_CUI:C1720861 semapv:UnspecifiedMatching +DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C0271694 semapv:UnspecifiedMatching +DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching +DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching +DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy skos:exactMatch OMIMPS:151660 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref ICD10CM:E75.26 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref MESH:D052517 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref NCI:C84908 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref OMIM:272200 semapv:UnspecifiedMatching -DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref UMLS_CUI:C0268263 semapv:UnspecifiedMatching -DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref UMLS_CUI:C1720864 semapv:UnspecifiedMatching +DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref UMLS:C0268263 semapv:UnspecifiedMatching +DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref UMLS:C1720864 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis skos:exactMatch OMIM:272200 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref ICD10CM:G60.1 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref NCI:C84789 semapv:UnspecifiedMatching -DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref UMLS_CUI:C0282527 semapv:UnspecifiedMatching +DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref MESH:D053098 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref NCI:C85234 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:307800 semapv:UnspecifiedMatching -DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS_CUI:C0733682 semapv:UnspecifiedMatching -DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS_CUI:C1845168 semapv:UnspecifiedMatching -DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS_CUI:C3540852 semapv:UnspecifiedMatching +DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0733682 semapv:UnspecifiedMatching +DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C1845168 semapv:UnspecifiedMatching +DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C3540852 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets skos:exactMatch OMIM:307800 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref GARD:8501 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref MESH:D053529 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref NCI:C84760 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref OMIMPS:193900 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref ORDO:171723 semapv:UnspecifiedMatching -DOID:0050448 white sponge nevus oboInOwl:hasDbXref UMLS_CUI:C1721005 semapv:UnspecifiedMatching +DOID:0050448 white sponge nevus oboInOwl:hasDbXref UMLS:C1721005 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus skos:exactMatch OMIMPS:193900 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref GARD:10753 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref MESH:D053549 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref NCI:C84986 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref OMIMPS:167200 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref ORDO:2309 semapv:UnspecifiedMatching -DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS_CUI:C0265334 semapv:UnspecifiedMatching -DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS_CUI:C1706595 semapv:UnspecifiedMatching -DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS_CUI:C1721007 semapv:UnspecifiedMatching +DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS:C0265334 semapv:UnspecifiedMatching +DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS:C1706595 semapv:UnspecifiedMatching +DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS:C1721007 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita skos:exactMatch OMIMPS:167200 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref GARD:8547 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref MESH:D053579 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref NCI:C84730 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref OMIM:263800 semapv:UnspecifiedMatching -DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref UMLS_CUI:C0268450 semapv:UnspecifiedMatching +DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref UMLS:C0268450 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome skos:exactMatch OMIM:263800 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref GARD:1030 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching @@ -413,8 +413,8 @@ DOID:0050451 Brugada syndrome oboInOwl:hasDbXref MESH:D053840 semapv:Unspecified DOID:0050451 Brugada syndrome oboInOwl:hasDbXref NCI:C142891 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref OMIMPS:601144 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref ORDO:130 semapv:UnspecifiedMatching -DOID:0050451 Brugada syndrome oboInOwl:hasDbXref UMLS_CUI:C1142166 semapv:UnspecifiedMatching -DOID:0050451 Brugada syndrome oboInOwl:hasDbXref UMLS_CUI:C1721096 semapv:UnspecifiedMatching +DOID:0050451 Brugada syndrome oboInOwl:hasDbXref UMLS:C1142166 semapv:UnspecifiedMatching +DOID:0050451 Brugada syndrome oboInOwl:hasDbXref UMLS:C1721096 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome skos:exactMatch OMIMPS:601144 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref GARD:3588 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching @@ -422,9 +422,9 @@ DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref MESH:D054078 semapv:Unspecifi DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref NCI:C84890 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref ORDO:29 semapv:UnspecifiedMatching -DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS_CUI:C0342731 semapv:UnspecifiedMatching -DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS_CUI:C0398691 semapv:UnspecifiedMatching -DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS_CUI:C1959626 semapv:UnspecifiedMatching +DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS:C0342731 semapv:UnspecifiedMatching +DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS:C0398691 semapv:UnspecifiedMatching +DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS:C1959626 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria skos:exactMatch OMIM:610377 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref GARD:12291 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching @@ -432,8 +432,8 @@ DOID:0050453 lissencephaly oboInOwl:hasDbXref MESH:D054082 semapv:UnspecifiedMat DOID:0050453 lissencephaly oboInOwl:hasDbXref NCI:C103921 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref OMIMPS:607432 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref ORDO:102009 semapv:UnspecifiedMatching -DOID:0050453 lissencephaly oboInOwl:hasDbXref UMLS_CUI:C0266463 semapv:UnspecifiedMatching -DOID:0050453 lissencephaly oboInOwl:hasDbXref UMLS_CUI:C0266483 semapv:UnspecifiedMatching +DOID:0050453 lissencephaly oboInOwl:hasDbXref UMLS:C0266463 semapv:UnspecifiedMatching +DOID:0050453 lissencephaly oboInOwl:hasDbXref UMLS:C0266483 semapv:UnspecifiedMatching DOID:0050453 lissencephaly skos:exactMatch OMIMPS:607432 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref MESH:D054091 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching @@ -442,43 +442,43 @@ DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608098 DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:612881 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref ORDO:98892 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref UMLS_CUI:C1848213 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref UMLS_CUI:C1868720 semapv:UnspecifiedMatching +DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1848213 semapv:UnspecifiedMatching +DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1868720 semapv:UnspecifiedMatching DOID:0050456 Buruli ulcer disease oboInOwl:hasDbXref GARD:9520 semapv:UnspecifiedMatching DOID:0050456 Buruli ulcer disease oboInOwl:hasDbXref ICD10CM:A31.1 semapv:UnspecifiedMatching DOID:0050456 Buruli ulcer disease oboInOwl:hasDbXref MESH:D054312 semapv:UnspecifiedMatching DOID:0050456 Buruli ulcer disease oboInOwl:hasDbXref NCI:C84604 semapv:UnspecifiedMatching -DOID:0050456 Buruli ulcer disease oboInOwl:hasDbXref UMLS_CUI:C0085568 semapv:UnspecifiedMatching +DOID:0050456 Buruli ulcer disease oboInOwl:hasDbXref UMLS:C0085568 semapv:UnspecifiedMatching DOID:0050457 Sertoli cell-only syndrome oboInOwl:hasDbXref GARD:8406 semapv:UnspecifiedMatching DOID:0050457 Sertoli cell-only syndrome oboInOwl:hasDbXref MESH:D054331 semapv:UnspecifiedMatching DOID:0050457 Sertoli cell-only syndrome oboInOwl:hasDbXref NCI:C168988 semapv:UnspecifiedMatching -DOID:0050457 Sertoli cell-only syndrome oboInOwl:hasDbXref UMLS_CUI:C1384583 semapv:UnspecifiedMatching +DOID:0050457 Sertoli cell-only syndrome oboInOwl:hasDbXref UMLS:C1384583 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref GARD:9884 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10CM:C93.3 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICDO:9946/3 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref MESH:D054429 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref NCI:C9233 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:607785 semapv:UnspecifiedMatching -DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0349639 semapv:UnspecifiedMatching +DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0349639 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia skos:exactMatch OMIM:607785 semapv:UnspecifiedMatching DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref MESH:D054559 semapv:UnspecifiedMatching DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref NCI:C113750 semapv:UnspecifiedMatching -DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref UMLS_CUI:C0085681 semapv:UnspecifiedMatching +DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref UMLS:C0085681 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref GARD:7896 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ICD10CM:Q93.3 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MESH:D054877 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref NCI:C35528 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ORDO:280 semapv:UnspecifiedMatching -DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS_CUI:C0796117 semapv:UnspecifiedMatching -DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS_CUI:C1956097 semapv:UnspecifiedMatching +DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C0796117 semapv:UnspecifiedMatching +DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C1956097 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome skos:exactMatch OMIM:194190 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref GARD:5854 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref ICD10CM:E77.1 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref MESH:D054880 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref NCI:C61273 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref OMIM:208400 semapv:UnspecifiedMatching -DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref UMLS_CUI:C0268225 semapv:UnspecifiedMatching +DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref UMLS:C0268225 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria skos:exactMatch MESH:D054880 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria skos:exactMatch OMIM:208400 semapv:UnspecifiedMatching DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis oboInOwl:hasDbXref OMIM:201750 semapv:UnspecifiedMatching @@ -490,33 +490,33 @@ DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref NCI:C120205 semapv:Unspecif DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref NCI:C84609 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref OMIM:114290 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref ORDO:140 semapv:UnspecifiedMatching -DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref UMLS_CUI:C1861922 semapv:UnspecifiedMatching -DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref UMLS_CUI:C1861923 semapv:UnspecifiedMatching +DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861922 semapv:UnspecifiedMatching +DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861923 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia skos:exactMatch OMIM:114290 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref GARD:6426 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref MESH:D055577 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref NCI:C84710 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref OMIM:228000 semapv:UnspecifiedMatching -DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref UMLS_CUI:C0268255 semapv:UnspecifiedMatching +DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref UMLS:C0268255 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis skos:exactMatch OMIM:228000 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref GARD:6821 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref NCI:C84905 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 semapv:UnspecifiedMatching -DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref UMLS_CUI:C1321489 semapv:UnspecifiedMatching +DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome skos:exactMatch OMIM:158320 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref GARD:10788 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref MESH:D055947 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref NCI:C75006 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref ORDO:60030 semapv:UnspecifiedMatching -DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS_CUI:C1836635 semapv:UnspecifiedMatching -DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS_CUI:C2697932 semapv:UnspecifiedMatching +DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C1836635 semapv:UnspecifiedMatching +DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C2697932 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref MESH:D056266 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref NCI:C84696 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref OMIMPS:133200 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref ORDO:317 semapv:UnspecifiedMatching -DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS_CUI:C0265961 semapv:UnspecifiedMatching -DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS_CUI:C1851480 semapv:UnspecifiedMatching +DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C0265961 semapv:UnspecifiedMatching +DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C1851480 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis skos:exactMatch MESH:D056266 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis skos:exactMatch OMIMPS:133200 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref GARD:184 semapv:UnspecifiedMatching @@ -524,21 +524,21 @@ DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref ICD10CM:L60.5 semapv:Unspec DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref MESH:D056684 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref NCI:C85238 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 semapv:UnspecifiedMatching -DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref UMLS_CUI:C0221348 semapv:UnspecifiedMatching +DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome skos:exactMatch OMIM:153300 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref GARD:1550 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref MESH:D056685 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref NCI:C84652 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref OMIM:218040 semapv:UnspecifiedMatching -DOID:0050469 Costello syndrome oboInOwl:hasDbXref UMLS_CUI:C0587248 semapv:UnspecifiedMatching +DOID:0050469 Costello syndrome oboInOwl:hasDbXref UMLS:C0587248 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome skos:exactMatch OMIM:218040 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref MESH:D056731 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref NCI:C131000 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref NCI:C84676 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref OMIM:246200 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref ORDO:508 semapv:UnspecifiedMatching -DOID:0050470 Donohue syndrome oboInOwl:hasDbXref UMLS_CUI:C0265344 semapv:UnspecifiedMatching -DOID:0050470 Donohue syndrome oboInOwl:hasDbXref UMLS_CUI:C0271695 semapv:UnspecifiedMatching +DOID:0050470 Donohue syndrome oboInOwl:hasDbXref UMLS:C0265344 semapv:UnspecifiedMatching +DOID:0050470 Donohue syndrome oboInOwl:hasDbXref UMLS:C0271695 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome skos:exactMatch OMIM:246200 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref GARD:1119 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref MESH:D056733 semapv:UnspecifiedMatching @@ -547,26 +547,26 @@ DOID:0050471 Carney complex oboInOwl:hasDbXref OMIM:160980 semapv:UnspecifiedMat DOID:0050471 Carney complex oboInOwl:hasDbXref OMIM:605244 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref OMIM:608837 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref ORDO:1359 semapv:UnspecifiedMatching -DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS_CUI:C0406810 semapv:UnspecifiedMatching -DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS_CUI:C1854540 semapv:UnspecifiedMatching -DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS_CUI:C2607929 semapv:UnspecifiedMatching +DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS:C0406810 semapv:UnspecifiedMatching +DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS:C1854540 semapv:UnspecifiedMatching +DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS:C2607929 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref GARD:93 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref ICD10CM:Q84.1 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref MESH:D056734 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref NCI:C84894 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref OMIM:158000 semapv:UnspecifiedMatching -DOID:0050472 monilethrix oboInOwl:hasDbXref UMLS_CUI:C0546966 semapv:UnspecifiedMatching +DOID:0050472 monilethrix oboInOwl:hasDbXref UMLS:C0546966 semapv:UnspecifiedMatching DOID:0050472 monilethrix skos:exactMatch OMIM:158000 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref MESH:D056769 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref NCI:C84549 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref OMIM:203800 semapv:UnspecifiedMatching -DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref UMLS_CUI:C0268425 semapv:UnspecifiedMatching +DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref UMLS:C0268425 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome skos:exactMatch MESH:D056769 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome skos:exactMatch OMIM:203800 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome oboInOwl:hasDbXref GARD:7182 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome oboInOwl:hasDbXref OMIM:256500 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome oboInOwl:hasDbXref ORDO:634 semapv:UnspecifiedMatching -DOID:0050474 Netherton syndrome oboInOwl:hasDbXref UMLS_CUI:C0265962 semapv:UnspecifiedMatching +DOID:0050474 Netherton syndrome oboInOwl:hasDbXref UMLS:C0265962 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome skos:exactMatch OMIM:256500 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref GARD:4936 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref MESH:D056846 semapv:UnspecifiedMatching @@ -577,22 +577,22 @@ DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:613195 semapv:Uns DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:614819 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIMPS:277600 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref ORDO:3449 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS_CUI:C0265313 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS_CUI:C1869114 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS_CUI:C1869115 semapv:UnspecifiedMatching +DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C0265313 semapv:UnspecifiedMatching +DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C1869114 semapv:UnspecifiedMatching +DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C1869115 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref GARD:5890 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref ICD10CM:E78.71 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref MESH:D056889 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref NCI:C84585 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref OMIM:302060 semapv:UnspecifiedMatching -DOID:0050476 Barth syndrome oboInOwl:hasDbXref UMLS_CUI:C0574083 semapv:UnspecifiedMatching +DOID:0050476 Barth syndrome oboInOwl:hasDbXref UMLS:C0574083 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome skos:exactMatch MESH:D056889 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome skos:exactMatch OMIM:302060 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref GARD:7381 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref MESH:D056929 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref NCI:C84827 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 semapv:UnspecifiedMatching -DOID:0050477 Liddle syndrome oboInOwl:hasDbXref UMLS_CUI:C0221043 semapv:UnspecifiedMatching +DOID:0050477 Liddle syndrome oboInOwl:hasDbXref UMLS:C0221043 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome skos:exactMatch OMIM:177200 semapv:UnspecifiedMatching DOID:0050485 sennetsu fever oboInOwl:hasDbXref GARD:120 semapv:UnspecifiedMatching DOID:0050485 sennetsu fever oboInOwl:hasDbXref MESH:C537582 semapv:UnspecifiedMatching @@ -600,7 +600,7 @@ DOID:0050486 exanthem oboInOwl:hasDbXref ICD10CM:R21 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref ICD9CM:782.1 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref MESH:D005076 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref NCI:C111884 semapv:UnspecifiedMatching -DOID:0050486 exanthem oboInOwl:hasDbXref UMLS_CUI:C0015230 semapv:UnspecifiedMatching +DOID:0050486 exanthem oboInOwl:hasDbXref UMLS:C0015230 semapv:UnspecifiedMatching DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIM:138800 semapv:UnspecifiedMatching DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIM:300273 semapv:UnspecifiedMatching DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIM:606082 semapv:UnspecifiedMatching @@ -609,15 +609,15 @@ DOID:0050489 multinodular goiter oboInOwl:hasDbXref ORDO:276399 semapv:Unspecifi DOID:0050495 exanthema subitum oboInOwl:hasDbXref ICD10CM:B08.2 semapv:UnspecifiedMatching DOID:0050495 exanthema subitum oboInOwl:hasDbXref ICD9CM:058.1 semapv:UnspecifiedMatching DOID:0050495 exanthema subitum oboInOwl:hasDbXref MESH:D005077 semapv:UnspecifiedMatching -DOID:0050495 exanthema subitum oboInOwl:hasDbXref UMLS_CUI:C0015231 semapv:UnspecifiedMatching +DOID:0050495 exanthema subitum oboInOwl:hasDbXref UMLS:C0015231 semapv:UnspecifiedMatching DOID:0050508 variola major oboInOwl:hasDbXref ICD9CM:050.0 semapv:UnspecifiedMatching -DOID:0050508 variola major oboInOwl:hasDbXref UMLS_CUI:C1812609 semapv:UnspecifiedMatching +DOID:0050508 variola major oboInOwl:hasDbXref UMLS:C1812609 semapv:UnspecifiedMatching DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref GARD:13103 semapv:UnspecifiedMatching DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref ICD10CM:C91.5 semapv:UnspecifiedMatching DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref ICDO:9827/3 semapv:UnspecifiedMatching DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MESH:D015459 semapv:UnspecifiedMatching DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref NCI:C3184 semapv:UnspecifiedMatching -DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS_CUI:C0023493 semapv:UnspecifiedMatching +DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0023493 semapv:UnspecifiedMatching DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref GARD:3697 semapv:UnspecifiedMatching DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref ICD10CM:E11.8 semapv:UnspecifiedMatching DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref KEGG:04950 semapv:UnspecifiedMatching @@ -633,26 +633,26 @@ DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.1 sema DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref MESH:C563948 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref ORDO:83420 semapv:UnspecifiedMatching -DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C1838230 semapv:UnspecifiedMatching +DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1838230 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy skos:exactMatch OMIM:271150 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref NCI:C156310 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching -DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0393538 semapv:UnspecifiedMatching +DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0393538 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy skos:exactMatch OMIM:253550 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref ICD10CM:H53.63 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref ICD9CM:368.61 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref MESH:C537743 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref OMIMPS:310500 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref ORDO:215 semapv:UnspecifiedMatching -DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref UMLS_CUI:C1306122 semapv:UnspecifiedMatching +DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref UMLS:C1306122 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness skos:exactMatch OMIMPS:310500 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref GARD:1613 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref ICD10CM:H35.00 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref ICD9CM:362.10 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref OMIMPS:133780 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref ORDO:891 semapv:UnspecifiedMatching -DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref UMLS_CUI:C0004608 semapv:UnspecifiedMatching +DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C0004608 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy skos:exactMatch OMIMPS:133780 semapv:UnspecifiedMatching DOID:0050538 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref GARD:12433 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref GARD:12431 semapv:UnspecifiedMatching @@ -660,7 +660,7 @@ DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD9CM:356.0 DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:118230 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ORDO:64746 semapv:UnspecifiedMatching -DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS_CUI:C0392553 semapv:UnspecifiedMatching +DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C0392553 semapv:UnspecifiedMatching DOID:0050540 Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref OMIM:145900 semapv:UnspecifiedMatching DOID:0050540 Charcot-Marie-Tooth disease type 3 skos:exactMatch OMIM:145900 semapv:UnspecifiedMatching DOID:0050541 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref GARD:12440 semapv:UnspecifiedMatching @@ -683,17 +683,19 @@ DOID:0050547 familial medullary thyroid carcinoma skos:exactMatch OMIM:155240 se DOID:0050548 hereditary sensory neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0050548 hereditary sensory neuropathy oboInOwl:hasDbXref OMIMPS:162400 semapv:UnspecifiedMatching DOID:0050548 hereditary sensory neuropathy skos:exactMatch OMIMPS:162400 semapv:UnspecifiedMatching -DOID:0050553 JMP syndrome oboInOwl:hasDbXref GARD:10988 semapv:UnspecifiedMatching -DOID:0050553 JMP syndrome oboInOwl:hasDbXref OMIM:256040 semapv:UnspecifiedMatching -DOID:0050553 JMP syndrome oboInOwl:hasDbXref ORDO:324999 semapv:UnspecifiedMatching -DOID:0050553 JMP syndrome skos:exactMatch OMIM:256040 semapv:UnspecifiedMatching +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref GARD:10988 semapv:UnspecifiedMatching +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref GARD:3916 semapv:UnspecifiedMatching +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref GARD:3917 semapv:UnspecifiedMatching +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref OMIM:256040 semapv:UnspecifiedMatching +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref ORDO:324999 semapv:UnspecifiedMatching +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch OMIM:256040 semapv:UnspecifiedMatching DOID:0050554 X-linked sideroblastic anemia with ataxia oboInOwl:hasDbXref OMIM:301310 semapv:UnspecifiedMatching DOID:0050554 X-linked sideroblastic anemia with ataxia skos:exactMatch OMIM:301310 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref GARD:9138 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref ICD9CM:359.0 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254100 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref ORDO:97242 semapv:UnspecifiedMatching -DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C2937300 semapv:UnspecifiedMatching +DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C2937300 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy skos:exactMatch OMIM:254100 semapv:UnspecifiedMatching DOID:0050558 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref GARD:4769 semapv:UnspecifiedMatching DOID:0050558 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching @@ -778,7 +780,7 @@ DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref GARD:7220 semapv:Unspecifi DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref ICD9CM:757.0 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref OMIMPS:153100 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref ORDO:79452 semapv:UnspecifiedMatching -DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref UMLS_CUI:C1313885 semapv:UnspecifiedMatching +DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref UMLS:C1313885 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema skos:exactMatch OMIMPS:153100 semapv:UnspecifiedMatching DOID:0050581 brachydactyly oboInOwl:hasDbXref GARD:11913 semapv:UnspecifiedMatching DOID:0050581 brachydactyly oboInOwl:hasDbXref MESH:D059327 semapv:UnspecifiedMatching @@ -798,7 +800,7 @@ DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref KEGG:05321 semapv:Uns DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref MESH:D015212 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref NCI:C3138 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref OMIMPS:266600 semapv:UnspecifiedMatching -DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref UMLS_CUI:C0021390 semapv:UnspecifiedMatching +DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref UMLS:C0021390 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease skos:exactMatch OMIMPS:266600 semapv:UnspecifiedMatching DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref GARD:13592 semapv:UnspecifiedMatching DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching @@ -818,7 +820,7 @@ DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:610926 semapv:UnspecifiedMat DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIMPS:106600 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:2227 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:99798 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref UMLS_CUI:C0399352 semapv:UnspecifiedMatching +DOID:0050591 tooth agenesis oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIMPS:208500 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref ORDO:474 semapv:UnspecifiedMatching @@ -827,7 +829,7 @@ DOID:0050593 primary congenital glaucoma oboInOwl:hasDbXref OMIM:613085 semapv:U DOID:0050593 primary congenital glaucoma oboInOwl:hasDbXref OMIM:613086 semapv:UnspecifiedMatching DOID:0050596 taeniasis oboInOwl:hasDbXref ICD10CM:B68.1 semapv:UnspecifiedMatching DOID:0050596 taeniasis oboInOwl:hasDbXref ICD9CM:123.2 semapv:UnspecifiedMatching -DOID:0050596 taeniasis oboInOwl:hasDbXref UMLS_CUI:C0152073 semapv:UnspecifiedMatching +DOID:0050596 taeniasis oboInOwl:hasDbXref UMLS:C0152073 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD10CM:B65.1 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD10CM:B65.2 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD9CM:120.1 semapv:UnspecifiedMatching @@ -839,9 +841,9 @@ DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35002 semapv:Uns DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35364 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ORDO:1247 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0036329 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0036330 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0276932 semapv:UnspecifiedMatching +DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS:C0036329 semapv:UnspecifiedMatching +DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS:C0036330 semapv:UnspecifiedMatching +DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS:C0276932 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis skos:exactMatch OMIM:181460 semapv:UnspecifiedMatching DOID:0050600 ABCD syndrome oboInOwl:hasDbXref MESH:C535334 semapv:UnspecifiedMatching DOID:0050600 ABCD syndrome oboInOwl:hasDbXref OMIM:600501 semapv:UnspecifiedMatching @@ -871,13 +873,13 @@ DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6017 semapv:Unspecif DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6018 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6019 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C8193 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0280334 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0854995 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335336 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335337 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335340 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C0280334 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C0854995 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C1335336 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C1335337 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C1335340 semapv:UnspecifiedMatching DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref NCI:C4441 semapv:UnspecifiedMatching -DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345913 semapv:UnspecifiedMatching +DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref UMLS:C0345913 semapv:UnspecifiedMatching DOID:0050628 advanced sleep phase syndrome oboInOwl:hasDbXref OMIMPS:604348 semapv:UnspecifiedMatching DOID:0050628 advanced sleep phase syndrome oboInOwl:hasDbXref ORDO:164736 semapv:UnspecifiedMatching DOID:0050628 advanced sleep phase syndrome skos:exactMatch OMIMPS:604348 semapv:UnspecifiedMatching @@ -965,7 +967,7 @@ DOID:0050647 Arts syndrome oboInOwl:hasDbXref GARD:8756 semapv:UnspecifiedMatchi DOID:0050647 Arts syndrome oboInOwl:hasDbXref MESH:C535388 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref ORDO:1187 semapv:UnspecifiedMatching -DOID:0050647 Arts syndrome oboInOwl:hasDbXref UMLS_CUI:C0796028 semapv:UnspecifiedMatching +DOID:0050647 Arts syndrome oboInOwl:hasDbXref UMLS:C0796028 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome skos:exactMatch OMIM:301835 semapv:UnspecifiedMatching DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:108720 semapv:UnspecifiedMatching DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:108721 semapv:UnspecifiedMatching @@ -1001,12 +1003,12 @@ DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:606215 semap DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:614474 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ORDO:98722 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref UMLS_CUI:C0014116 semapv:UnspecifiedMatching +DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0014116 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref GARD:1602 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref MESH:C536788 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref ORDO:1223 semapv:UnspecifiedMatching -DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS_CUI:C0265308 semapv:UnspecifiedMatching +DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS:C0265308 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome skos:exactMatch OMIM:218600 semapv:UnspecifiedMatching DOID:0050655 Bamforth-Lazarus syndrome oboInOwl:hasDbXref OMIM:241850 semapv:UnspecifiedMatching DOID:0050655 Bamforth-Lazarus syndrome skos:exactMatch OMIM:241850 semapv:UnspecifiedMatching @@ -1068,7 +1070,7 @@ DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref GARD:22 semapv:UnspecifiedMat DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref MESH:C537633 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref OMIM:262000 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref ORDO:123 semapv:UnspecifiedMatching -DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref UMLS_CUI:C0266006 semapv:UnspecifiedMatching +DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref UMLS:C0266006 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome skos:exactMatch OMIM:262000 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref GARD:304 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref MESH:C538157 semapv:UnspecifiedMatching @@ -1087,7 +1089,7 @@ DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MESH:C536575 DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref NCI:C157122 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref OMIM:301900 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ORDO:127 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0265339 semapv:UnspecifiedMatching +DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref UMLS:C0265339 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome skos:exactMatch OMIM:301900 semapv:UnspecifiedMatching DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ORDO:69739 semapv:UnspecifiedMatching @@ -1099,11 +1101,11 @@ DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref GARD:5950 semapv:Unspecif DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref MESH:C537081 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref OMIM:211180 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref ORDO:1270 semapv:UnspecifiedMatching -DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref UMLS_CUI:C1859405 semapv:UnspecifiedMatching +DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref UMLS:C1859405 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome skos:exactMatch OMIM:211180 semapv:UnspecifiedMatching DOID:0050685 small cell carcinoma oboInOwl:hasDbXref ICDO:8041/3 semapv:UnspecifiedMatching DOID:0050685 small cell carcinoma oboInOwl:hasDbXref NCI:C4099 semapv:UnspecifiedMatching -DOID:0050685 small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334239 semapv:UnspecifiedMatching +DOID:0050685 small cell carcinoma oboInOwl:hasDbXref UMLS:C0334239 semapv:UnspecifiedMatching DOID:0050686 organ system cancer oboInOwl:hasDbXref MESH:D009371 semapv:UnspecifiedMatching DOID:0050689 brachydactyly-syndactyly syndrome oboInOwl:hasDbXref MESH:C565193 semapv:UnspecifiedMatching DOID:0050689 brachydactyly-syndactyly syndrome oboInOwl:hasDbXref OMIM:610713 semapv:UnspecifiedMatching @@ -1125,7 +1127,7 @@ DOID:0050692 Brody myopathy skos:exactMatch OMIM:601003 semapv:UnspecifiedMatchi DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref GARD:10179 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref ORDO:79493 semapv:UnspecifiedMatching -DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS_CUI:C1857941 semapv:UnspecifiedMatching +DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS:C1857941 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome skos:exactMatch OMIM:605041 semapv:UnspecifiedMatching DOID:0050694 Brown-Vialetto-Van Laere syndrome oboInOwl:hasDbXref MESH:C537111 semapv:UnspecifiedMatching DOID:0050694 Brown-Vialetto-Van Laere syndrome oboInOwl:hasDbXref OMIMPS:211530 semapv:UnspecifiedMatching @@ -1140,18 +1142,18 @@ DOID:0050699 Dent disease oboInOwl:hasDbXref NCI:C123260 semapv:UnspecifiedMatch DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref ORDO:1652 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C0878681 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C1845167 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C1848336 semapv:UnspecifiedMatching +DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS:C0878681 semapv:UnspecifiedMatching +DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS:C1845167 semapv:UnspecifiedMatching +DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS:C1848336 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.9 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref MESH:D009202 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref NCI:C34830 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref NCI:C53654 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0033141 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0036529 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0878544 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS:C0033141 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS:C0036529 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS:C0878544 semapv:UnspecifiedMatching DOID:0050709 early infantile epileptic encephalopathy oboInOwl:hasDbXref GARD:9255 semapv:UnspecifiedMatching DOID:0050709 early infantile epileptic encephalopathy oboInOwl:hasDbXref ORDO:1934 semapv:UnspecifiedMatching DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref GARD:10954 semapv:UnspecifiedMatching @@ -1164,6 +1166,9 @@ DOID:0050711 aceruloplasminemia skos:exactMatch OMIM:604290 semapv:UnspecifiedMa DOID:0050712 AGAT deficiency oboInOwl:hasDbXref OMIM:612718 semapv:UnspecifiedMatching DOID:0050712 AGAT deficiency skos:exactMatch OMIM:612718 semapv:UnspecifiedMatching DOID:0050713 COX deficiency, infantile mitochondrial myopathy oboInOwl:hasDbXref ORDO:1561 semapv:UnspecifiedMatching +DOID:0050713 COX deficiency, infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4273730 semapv:UnspecifiedMatching +DOID:0050713 COX deficiency, infantile mitochondrial myopathy skos:exactMatch ORDO:1561 semapv:UnspecifiedMatching +DOID:0050713 COX deficiency, infantile mitochondrial myopathy skos:exactMatch UMLS:C4273730 semapv:UnspecifiedMatching DOID:0050715 methylmalonic aciduria and homocystinuria type cblC oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching DOID:0050715 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch OMIM:277400 semapv:UnspecifiedMatching DOID:0050716 methylmalonic aciduria and homocystinuria type cblD oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching @@ -1209,7 +1214,7 @@ DOID:0050742 nicotine dependence oboInOwl:hasDbXref EFO:0003768 semapv:Unspecifi DOID:0050742 nicotine dependence oboInOwl:hasDbXref ICD10CM:F17 semapv:UnspecifiedMatching DOID:0050742 nicotine dependence oboInOwl:hasDbXref MESH:D014029 semapv:UnspecifiedMatching DOID:0050742 nicotine dependence oboInOwl:hasDbXref NCI:C54203 semapv:UnspecifiedMatching -DOID:0050742 nicotine dependence oboInOwl:hasDbXref UMLS_CUI:C0028043 semapv:UnspecifiedMatching +DOID:0050742 nicotine dependence oboInOwl:hasDbXref UMLS:C0028043 semapv:UnspecifiedMatching DOID:0050744 anaplastic large cell lymphoma oboInOwl:hasDbXref ICDO:9714/3 semapv:UnspecifiedMatching DOID:0050744 anaplastic large cell lymphoma oboInOwl:hasDbXref NCI:C3720 semapv:UnspecifiedMatching DOID:0050745 diffuse large B-cell lymphoma oboInOwl:hasDbXref GARD:3178 semapv:UnspecifiedMatching @@ -1247,7 +1252,7 @@ DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref MESH:D020967 semapv:Un DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref NCI:C84913 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref OMIM:602668 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref ORDO:606 semapv:UnspecifiedMatching -DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref UMLS_CUI:C0553604 semapv:UnspecifiedMatching +DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref UMLS:C0553604 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 skos:exactMatch OMIM:602668 semapv:UnspecifiedMatching DOID:0050760 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref GARD:3892 semapv:UnspecifiedMatching DOID:0050760 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref OMIM:310440 semapv:UnspecifiedMatching @@ -1270,7 +1275,7 @@ DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref MESH:D054546 semapv:Unspeci DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref NCI:C84926 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref OMIM:200150 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref ORDO:2388 semapv:UnspecifiedMatching -DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref UMLS_CUI:C0393576 semapv:UnspecifiedMatching +DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis skos:exactMatch OMIM:200150 semapv:UnspecifiedMatching DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 oboInOwl:hasDbXref OMIM:604273 semapv:UnspecifiedMatching DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 skos:exactMatch OMIM:604273 semapv:UnspecifiedMatching @@ -1299,12 +1304,12 @@ DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:601650 semapv:UnspecifiedMatc DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:605373 semapv:UnspecifiedMatching DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:614165 semapv:UnspecifiedMatching DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIMPS:168000 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref UMLS_CUI:C0030421 semapv:UnspecifiedMatching +DOID:0050773 paraganglioma oboInOwl:hasDbXref UMLS:C0030421 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref GARD:4637 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref MESH:C535288 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref OMIM:266280 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref ORDO:3021 semapv:UnspecifiedMatching -DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref UMLS_CUI:C1849453 semapv:UnspecifiedMatching +DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref UMLS:C1849453 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome skos:exactMatch OMIM:266280 semapv:UnspecifiedMatching DOID:0050775 schneckenbecken dysplasia oboInOwl:hasDbXref GARD:169 semapv:UnspecifiedMatching DOID:0050775 schneckenbecken dysplasia oboInOwl:hasDbXref MESH:C536637 semapv:UnspecifiedMatching @@ -1322,7 +1327,7 @@ DOID:0050778 Meckel syndrome oboInOwl:hasDbXref GARD:3436 semapv:UnspecifiedMatc DOID:0050778 Meckel syndrome oboInOwl:hasDbXref ICD9CM:753.1 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome oboInOwl:hasDbXref OMIMPS:249000 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome oboInOwl:hasDbXref ORDO:564 semapv:UnspecifiedMatching -DOID:0050778 Meckel syndrome oboInOwl:hasDbXref UMLS_CUI:C0311245 semapv:UnspecifiedMatching +DOID:0050778 Meckel syndrome oboInOwl:hasDbXref UMLS:C0311245 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome skos:exactMatch OMIMPS:249000 semapv:UnspecifiedMatching DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref GARD:6683 semapv:UnspecifiedMatching DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching @@ -1337,15 +1342,15 @@ DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref GARD:7918 semapv:Unsp DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10CM:E16.4 semapv:UnspecifiedMatching DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015043 semapv:UnspecifiedMatching DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref NCI:C3453 semapv:UnspecifiedMatching -DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref UMLS_CUI:C0043515 semapv:UnspecifiedMatching +DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref UMLS:C0043515 semapv:UnspecifiedMatching DOID:0050783 secondary progressive multiple sclerosis oboInOwl:hasDbXref MESH:D020528 semapv:UnspecifiedMatching -DOID:0050783 secondary progressive multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0751965 semapv:UnspecifiedMatching +DOID:0050783 secondary progressive multiple sclerosis oboInOwl:hasDbXref UMLS:C0751965 semapv:UnspecifiedMatching DOID:0050783 secondary progressive multiple sclerosis skos:narrowMatch MESH:D020528 semapv:UnspecifiedMatching DOID:0050784 primary progressive multiple sclerosis oboInOwl:hasDbXref MESH:D020528 semapv:UnspecifiedMatching -DOID:0050784 primary progressive multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0751964 semapv:UnspecifiedMatching +DOID:0050784 primary progressive multiple sclerosis oboInOwl:hasDbXref UMLS:C0751964 semapv:UnspecifiedMatching DOID:0050784 primary progressive multiple sclerosis skos:narrowMatch MESH:D020528 semapv:UnspecifiedMatching DOID:0050785 progressive relapsing multiple sclerosis oboInOwl:hasDbXref MESH:D020528 semapv:UnspecifiedMatching -DOID:0050785 progressive relapsing multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0393666 semapv:UnspecifiedMatching +DOID:0050785 progressive relapsing multiple sclerosis oboInOwl:hasDbXref UMLS:C0393666 semapv:UnspecifiedMatching DOID:0050785 progressive relapsing multiple sclerosis skos:narrowMatch MESH:D020528 semapv:UnspecifiedMatching DOID:0050786 iridogoniodysgenesis syndrome oboInOwl:hasDbXref OMIM:137600 semapv:UnspecifiedMatching DOID:0050786 iridogoniodysgenesis syndrome oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching @@ -1372,12 +1377,12 @@ DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref GARD:8435 sem DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref MESH:C536665 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref NCI:C120188 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref OMIM:261550 semapv:UnspecifiedMatching -DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref UMLS_CUI:C1849930 semapv:UnspecifiedMatching +DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref UMLS:C1849930 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome skos:exactMatch OMIM:261550 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref MESH:C563977 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref OMIM:600195 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref ORDO:2451 semapv:UnspecifiedMatching -DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref UMLS_CUI:C1838437 semapv:UnspecifiedMatching +DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref UMLS:C1838437 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations skos:exactMatch OMIM:600195 semapv:UnspecifiedMatching DOID:0050793 short QT syndrome oboInOwl:hasDbXref OMIM:609620 semapv:UnspecifiedMatching DOID:0050793 short QT syndrome oboInOwl:hasDbXref OMIM:609621 semapv:UnspecifiedMatching @@ -1391,15 +1396,20 @@ DOID:0050795 cone dystrophy skos:exactMatch MESH:D000077765 semapv:UnspecifiedMa DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref GARD:456 semapv:UnspecifiedMatching DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref MESH:C536010 semapv:UnspecifiedMatching DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref OMIM:200450 semapv:UnspecifiedMatching -DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref UMLS_CUI:C1860212 semapv:UnspecifiedMatching +DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref UMLS:C1860212 semapv:UnspecifiedMatching DOID:0050796 achalasia microcephaly syndrome skos:exactMatch OMIM:200450 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref GARD:4543 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MESH:C536662 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref NCI:C170437 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref OMIM:264470 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ORDO:2971 semapv:UnspecifiedMatching -DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C1849678 semapv:UnspecifiedMatching +DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C1849678 semapv:UnspecifiedMatching +DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch GARD:4543 semapv:UnspecifiedMatching +DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCI:C170437 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch OMIM:264470 semapv:UnspecifiedMatching +DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch ORDO:2971 semapv:UnspecifiedMatching +DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch SNOMEDCT_US_2020_03_01:238069004 semapv:UnspecifiedMatching +DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching DOID:0050798 cerebral creatine deficiency syndrome oboInOwl:hasDbXref OMIMPS:300352 semapv:UnspecifiedMatching DOID:0050798 cerebral creatine deficiency syndrome skos:exactMatch OMIMPS:300352 semapv:UnspecifiedMatching DOID:0050799 guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref GARD:2578 semapv:UnspecifiedMatching @@ -1414,7 +1424,7 @@ DOID:0050801 androgenic alopecia oboInOwl:hasDbXref OMIM:300710 semapv:Unspecifi DOID:0050801 androgenic alopecia oboInOwl:hasDbXref OMIM:612421 semapv:UnspecifiedMatching DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref ORDO:75496 semapv:UnspecifiedMatching -DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref UMLS_CUI:C1869122 semapv:UnspecifiedMatching +DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref UMLS:C1869122 semapv:UnspecifiedMatching DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 skos:exactMatch OMIM:615349 semapv:UnspecifiedMatching DOID:0050807 Kahrizi syndrome oboInOwl:hasDbXref MESH:C567196 semapv:UnspecifiedMatching DOID:0050807 Kahrizi syndrome oboInOwl:hasDbXref OMIM:612713 semapv:UnspecifiedMatching @@ -1433,7 +1443,7 @@ DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201910 semap DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202010 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref ORDO:418 semapv:UnspecifiedMatching -DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref UMLS_CUI:C0701163 semapv:UnspecifiedMatching +DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref UMLS:C0701163 semapv:UnspecifiedMatching DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type oboInOwl:hasDbXref MESH:C567551 semapv:UnspecifiedMatching DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type oboInOwl:hasDbXref OMIM:612847 semapv:UnspecifiedMatching DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type skos:exactMatch OMIM:612847 semapv:UnspecifiedMatching @@ -1443,7 +1453,7 @@ DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref GARD:967 DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref MESH:C536958 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref OMIM:605282 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref ORDO:363417 semapv:UnspecifiedMatching -DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref UMLS_CUI:C1854466 semapv:UnspecifiedMatching +DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1854466 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome skos:exactMatch OMIM:605282 semapv:UnspecifiedMatching DOID:0050816 urofacial syndrome oboInOwl:hasDbXref GARD:2781 semapv:UnspecifiedMatching DOID:0050816 urofacial syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching @@ -1462,11 +1472,11 @@ DOID:0050820 atrioventricular block oboInOwl:hasDbXref ICD10CM:I44.3 semapv:Unsp DOID:0050820 atrioventricular block oboInOwl:hasDbXref ICD9CM:426.10 semapv:UnspecifiedMatching DOID:0050820 atrioventricular block oboInOwl:hasDbXref MESH:D054537 semapv:UnspecifiedMatching DOID:0050820 atrioventricular block oboInOwl:hasDbXref NCI:C26703 semapv:UnspecifiedMatching -DOID:0050820 atrioventricular block oboInOwl:hasDbXref UMLS_CUI:C0004245 semapv:UnspecifiedMatching +DOID:0050820 atrioventricular block oboInOwl:hasDbXref UMLS:C0004245 semapv:UnspecifiedMatching DOID:0050820 atrioventricular block skos:exactMatch MESH:D054537 semapv:UnspecifiedMatching DOID:0050826 tricuspid valve disease oboInOwl:hasDbXref ICD10CM:I07 semapv:UnspecifiedMatching DOID:0050826 tricuspid valve disease oboInOwl:hasDbXref ICD9CM:397.0 semapv:UnspecifiedMatching -DOID:0050826 tricuspid valve disease oboInOwl:hasDbXref UMLS_CUI:C0264776 semapv:UnspecifiedMatching +DOID:0050826 tricuspid valve disease oboInOwl:hasDbXref UMLS:C0264776 semapv:UnspecifiedMatching DOID:0050827 rheumatic heart disease oboInOwl:hasDbXref MESH:D012214 semapv:UnspecifiedMatching DOID:0050830 peripheral artery disease oboInOwl:hasDbXref MESH:D058729 semapv:UnspecifiedMatching DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref GARD:10037 semapv:UnspecifiedMatching @@ -1480,8 +1490,8 @@ DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref MESH:D058747 semapv:UnspecifiedM DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref NCI:C75100 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref OMIM:214800 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref ORDO:138 semapv:UnspecifiedMatching -DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref UMLS_CUI:C0265354 semapv:UnspecifiedMatching -DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref UMLS_CUI:C2936502 semapv:UnspecifiedMatching +DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref UMLS:C0265354 semapv:UnspecifiedMatching +DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref UMLS:C2936502 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome skos:exactMatch MESH:D058747 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome skos:exactMatch OMIM:214800 semapv:UnspecifiedMatching DOID:0050835 generalized dystonia oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching @@ -1494,27 +1504,27 @@ DOID:0050835 generalized dystonia oboInOwl:hasDbXref NCI:C34564 semapv:Unspecifi DOID:0050835 generalized dystonia oboInOwl:hasDbXref NCI:C35437 semapv:UnspecifiedMatching DOID:0050835 generalized dystonia oboInOwl:hasDbXref NCI:C35438 semapv:UnspecifiedMatching DOID:0050835 generalized dystonia oboInOwl:hasDbXref NCI:C35527 semapv:UnspecifiedMatching -DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS_CUI:C0013423 semapv:UnspecifiedMatching -DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS_CUI:C0154674 semapv:UnspecifiedMatching -DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS_CUI:C0154675 semapv:UnspecifiedMatching -DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS_CUI:C0393598 semapv:UnspecifiedMatching -DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS_CUI:C0393601 semapv:UnspecifiedMatching -DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS_CUI:C0752207 semapv:UnspecifiedMatching +DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS:C0013423 semapv:UnspecifiedMatching +DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS:C0154674 semapv:UnspecifiedMatching +DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS:C0154675 semapv:UnspecifiedMatching +DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS:C0393598 semapv:UnspecifiedMatching +DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS:C0393601 semapv:UnspecifiedMatching +DOID:0050835 generalized dystonia oboInOwl:hasDbXref UMLS:C0752207 semapv:UnspecifiedMatching DOID:0050836 focal dystonia oboInOwl:hasDbXref GARD:6458 semapv:UnspecifiedMatching DOID:0050840 cervical dystonia oboInOwl:hasDbXref GARD:10668 semapv:UnspecifiedMatching DOID:0050841 focal hand dystonia oboInOwl:hasDbXref ICD9CM:333.84 semapv:UnspecifiedMatching -DOID:0050841 focal hand dystonia oboInOwl:hasDbXref UMLS_CUI:C0154676 semapv:UnspecifiedMatching +DOID:0050841 focal hand dystonia oboInOwl:hasDbXref UMLS:C0154676 semapv:UnspecifiedMatching DOID:0050847 sleep apnea oboInOwl:hasDbXref ICD10CM:G47.3 semapv:UnspecifiedMatching DOID:0050847 sleep apnea oboInOwl:hasDbXref ICD9CM:780.57 semapv:UnspecifiedMatching DOID:0050847 sleep apnea oboInOwl:hasDbXref MESH:D012891 semapv:UnspecifiedMatching DOID:0050847 sleep apnea oboInOwl:hasDbXref NCI:C26884 semapv:UnspecifiedMatching -DOID:0050847 sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0037315 semapv:UnspecifiedMatching +DOID:0050847 sleep apnea oboInOwl:hasDbXref UMLS:C0037315 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref ICD10CM:G47.33 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref ICD9CM:327.23 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref MESH:D020181 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref NCI:C116337 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref OMIM:107650 semapv:UnspecifiedMatching -DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0520679 semapv:UnspecifiedMatching +DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref UMLS:C0520679 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea skos:exactMatch OMIM:107650 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref GARD:8472 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10CM:M04.2 semapv:UnspecifiedMatching @@ -1523,7 +1533,7 @@ DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref MESH:D056587 semapv:Unspec DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref NCI:C119054 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref OMIM:191900 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref ORDO:575 semapv:UnspecifiedMatching -DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS_CUI:C0268390 semapv:UnspecifiedMatching +DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS:C0268390 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome skos:exactMatch OMIM:191900 semapv:UnspecifiedMatching DOID:0050857 Perrault syndrome oboInOwl:hasDbXref GARD:2542 semapv:UnspecifiedMatching DOID:0050857 Perrault syndrome oboInOwl:hasDbXref OMIM:233400 semapv:UnspecifiedMatching @@ -1538,9 +1548,9 @@ DOID:0050858 Marshall-Smith syndrome oboInOwl:hasDbXref OMIM:602535 semapv:Unspe DOID:0050858 Marshall-Smith syndrome oboInOwl:hasDbXref ORDO:561 semapv:UnspecifiedMatching DOID:0050858 Marshall-Smith syndrome skos:exactMatch OMIM:602535 semapv:UnspecifiedMatching DOID:0050861 colorectal adenocarcinoma oboInOwl:hasDbXref NCI:C5105 semapv:UnspecifiedMatching -DOID:0050861 colorectal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1319315 semapv:UnspecifiedMatching +DOID:0050861 colorectal adenocarcinoma oboInOwl:hasDbXref UMLS:C1319315 semapv:UnspecifiedMatching DOID:0050865 tongue squamous cell carcinoma oboInOwl:hasDbXref NCI:C4648 semapv:UnspecifiedMatching -DOID:0050865 tongue squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349566 semapv:UnspecifiedMatching +DOID:0050865 tongue squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0349566 semapv:UnspecifiedMatching DOID:0050866 oral squamous cell carcinoma oboInOwl:hasDbXref GARD:7263 semapv:UnspecifiedMatching DOID:0050869 villous adenoma oboInOwl:hasDbXref ICDO:8261/0 semapv:UnspecifiedMatching DOID:0050871 fibroma oboInOwl:hasDbXref ICDO:8810/0 semapv:UnspecifiedMatching @@ -1555,7 +1565,7 @@ DOID:0050873 follicular lymphoma skos:exactMatch OMIM:151430 semapv:UnspecifiedM DOID:0050876 Caroli disease oboInOwl:hasDbXref GARD:6002 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref NCI:C84619 semapv:UnspecifiedMatching -DOID:0050876 Caroli disease oboInOwl:hasDbXref UMLS_CUI:C0162510 semapv:UnspecifiedMatching +DOID:0050876 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref GARD:4203 semapv:UnspecifiedMatching DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref ORDO:2805 semapv:UnspecifiedMatching @@ -1606,16 +1616,16 @@ DOID:0050902 medulloblastoma oboInOwl:hasDbXref NCI:C3222 semapv:UnspecifiedMatc DOID:0050902 medulloblastoma oboInOwl:hasDbXref NCI:C3716 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref ORDO:616 semapv:UnspecifiedMatching -DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0025149 semapv:UnspecifiedMatching -DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0206663 semapv:UnspecifiedMatching -DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1334410 semapv:UnspecifiedMatching +DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS:C0025149 semapv:UnspecifiedMatching +DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS:C0206663 semapv:UnspecifiedMatching +DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS:C1334410 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma skos:exactMatch OMIM:155255 semapv:UnspecifiedMatching DOID:0050905 inflammatory myofibroblastic tumor oboInOwl:hasDbXref GARD:7146 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref GARD:7132 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref ICDO:9989/3 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref MESH:D009190 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref OMIM:614286 semapv:UnspecifiedMatching -DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref UMLS_CUI:C2713368 semapv:UnspecifiedMatching +DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C2713368 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome skos:exactMatch OMIM:614286 semapv:UnspecifiedMatching DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue oboInOwl:hasDbXref ICDO:9699/3 semapv:UnspecifiedMatching DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue oboInOwl:hasDbXref NCI:C3898 semapv:UnspecifiedMatching @@ -1664,7 +1674,7 @@ DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref GARD:9970 semapv:U DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref MESH:D020754 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:600223 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref ORDO:98765 semapv:UnspecifiedMatching -DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS_CUI:C0752122 semapv:UnspecifiedMatching +DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C0752122 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 skos:exactMatch OMIM:600223 semapv:UnspecifiedMatching DOID:0050958 spinocerebellar ataxia type 7 oboInOwl:hasDbXref OMIM:164500 semapv:UnspecifiedMatching DOID:0050958 spinocerebellar ataxia type 7 skos:exactMatch OMIM:164500 semapv:UnspecifiedMatching @@ -1774,7 +1784,7 @@ DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref GARD:5 DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref MESH:D053632 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref NCI:C4682 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref OMIM:300400 semapv:UnspecifiedMatching -DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref UMLS_CUI:C1279481 semapv:UnspecifiedMatching +DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C1279481 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency skos:exactMatch OMIM:300400 semapv:UnspecifiedMatching DOID:0060019 coronin-1A deficiency oboInOwl:hasDbXref OMIM:615401 semapv:UnspecifiedMatching DOID:0060019 coronin-1A deficiency skos:exactMatch OMIM:615401 semapv:UnspecifiedMatching @@ -1782,7 +1792,7 @@ DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref GARD:8625 semapv:Unspecifie DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref MESH:C538361 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref NCI:C27070 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref OMIM:267500 semapv:UnspecifiedMatching -DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0272167 semapv:UnspecifiedMatching +DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref UMLS:C0272167 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis skos:exactMatch OMIM:267500 semapv:UnspecifiedMatching DOID:0060021 DNA ligase IV deficiency oboInOwl:hasDbXref OMIM:606593 semapv:UnspecifiedMatching DOID:0060021 DNA ligase IV deficiency skos:exactMatch OMIM:606593 semapv:UnspecifiedMatching @@ -1798,11 +1808,11 @@ DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref OMIM:137100 sema DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref OMIM:269650 semapv:UnspecifiedMatching DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref OMIM:609529 semapv:UnspecifiedMatching DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref ORDO:69127 semapv:UnspecifiedMatching -DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref UMLS_CUI:C0162538 semapv:UnspecifiedMatching +DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref UMLS:C0162538 semapv:UnspecifiedMatching DOID:0060027 agammaglobulinemia 4 oboInOwl:hasDbXref OMIM:613502 semapv:UnspecifiedMatching DOID:0060027 agammaglobulinemia 4 skos:exactMatch OMIM:613502 semapv:UnspecifiedMatching DOID:0060040 pervasive developmental disorder oboInOwl:hasDbXref ICD9CM:299.80 semapv:UnspecifiedMatching -DOID:0060040 pervasive developmental disorder oboInOwl:hasDbXref UMLS_CUI:C0154451 semapv:UnspecifiedMatching +DOID:0060040 pervasive developmental disorder oboInOwl:hasDbXref UMLS:C0154451 semapv:UnspecifiedMatching DOID:0060041 autism spectrum disorder oboInOwl:hasDbXref GARD:10248 semapv:UnspecifiedMatching DOID:0060041 autism spectrum disorder oboInOwl:hasDbXref MESH:D000067877 semapv:UnspecifiedMatching DOID:0060046 aphasia oboInOwl:hasDbXref MESH:D001037 semapv:UnspecifiedMatching @@ -1814,21 +1824,21 @@ DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:119500 semapv: DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:263650 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref ORDO:1300 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref ORDO:294963 semapv:UnspecifiedMatching -DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref UMLS_CUI:C0265259 semapv:UnspecifiedMatching +DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref UMLS:C0265259 semapv:UnspecifiedMatching DOID:0060058 lymphoma oboInOwl:hasDbXref ICD10CM:C85.9 semapv:UnspecifiedMatching DOID:0060058 lymphoma oboInOwl:hasDbXref ICDO:9590/3 semapv:UnspecifiedMatching DOID:0060058 lymphoma oboInOwl:hasDbXref MESH:D008223 semapv:UnspecifiedMatching DOID:0060058 lymphoma oboInOwl:hasDbXref NCI:C3208 semapv:UnspecifiedMatching DOID:0060058 lymphoma oboInOwl:hasDbXref NCI:C7065 semapv:UnspecifiedMatching -DOID:0060058 lymphoma oboInOwl:hasDbXref UMLS_CUI:C0024299 semapv:UnspecifiedMatching -DOID:0060058 lymphoma oboInOwl:hasDbXref UMLS_CUI:C0598798 semapv:UnspecifiedMatching +DOID:0060058 lymphoma oboInOwl:hasDbXref UMLS:C0024299 semapv:UnspecifiedMatching +DOID:0060058 lymphoma oboInOwl:hasDbXref UMLS:C0598798 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref ICD10CM:C85.9 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref ICDO:9591/3 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref NCI:C3211 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref OMIM:605027 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref ORDO:547 semapv:UnspecifiedMatching -DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS_CUI:C0024305 semapv:UnspecifiedMatching +DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0024305 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 semapv:UnspecifiedMatching DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref GARD:6226 semapv:UnspecifiedMatching DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D016410 semapv:UnspecifiedMatching @@ -1856,52 +1866,52 @@ DOID:0060103 central nervous system embryonal tumor oboInOwl:hasDbXref ICDO:9473 DOID:0060103 central nervous system embryonal tumor oboInOwl:hasDbXref NCI:C5398 semapv:UnspecifiedMatching DOID:0060119 pharynx cancer oboInOwl:hasDbXref MESH:D010610 semapv:UnspecifiedMatching DOID:0060119 pharynx cancer oboInOwl:hasDbXref NCI:C3325 semapv:UnspecifiedMatching -DOID:0060119 pharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0031347 semapv:UnspecifiedMatching +DOID:0060119 pharynx cancer oboInOwl:hasDbXref UMLS:C0031347 semapv:UnspecifiedMatching DOID:0060123 connective tissue benign neoplasm oboInOwl:hasDbXref MESH:D012983 semapv:UnspecifiedMatching DOID:0060123 connective tissue benign neoplasm oboInOwl:hasDbXref NCI:C3377 semapv:UnspecifiedMatching -DOID:0060123 connective tissue benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0037579 semapv:UnspecifiedMatching +DOID:0060123 connective tissue benign neoplasm oboInOwl:hasDbXref UMLS:C0037579 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease oboInOwl:hasDbXref ICD10CM:C88.2 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease oboInOwl:hasDbXref ICDO:9762/3 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease oboInOwl:hasDbXref MESH:D006362 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease oboInOwl:hasDbXref NCI:C3082 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease oboInOwl:hasDbXref NCI:C3083 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease oboInOwl:hasDbXref NCI:C3892 semapv:UnspecifiedMatching -DOID:0060125 heavy chain disease oboInOwl:hasDbXref UMLS_CUI:C0018852 semapv:UnspecifiedMatching -DOID:0060125 heavy chain disease oboInOwl:hasDbXref UMLS_CUI:C0018854 semapv:UnspecifiedMatching -DOID:0060125 heavy chain disease oboInOwl:hasDbXref UMLS_CUI:C0242310 semapv:UnspecifiedMatching +DOID:0060125 heavy chain disease oboInOwl:hasDbXref UMLS:C0018852 semapv:UnspecifiedMatching +DOID:0060125 heavy chain disease oboInOwl:hasDbXref UMLS:C0018854 semapv:UnspecifiedMatching +DOID:0060125 heavy chain disease oboInOwl:hasDbXref UMLS:C0242310 semapv:UnspecifiedMatching DOID:0060125 heavy chain disease skos:exactMatch MESH:D006362 semapv:UnspecifiedMatching DOID:0060127 gamma heavy chain disease oboInOwl:hasDbXref GARD:10346 semapv:UnspecifiedMatching DOID:0060135 apraxia oboInOwl:hasDbXref GARD:5838 semapv:UnspecifiedMatching DOID:0060135 apraxia oboInOwl:hasDbXref ICD10CM:R48.2 semapv:UnspecifiedMatching DOID:0060135 apraxia oboInOwl:hasDbXref MESH:D001072 semapv:UnspecifiedMatching DOID:0060135 apraxia oboInOwl:hasDbXref NCI:C180557 semapv:UnspecifiedMatching -DOID:0060135 apraxia oboInOwl:hasDbXref UMLS_CUI:C0003635 semapv:UnspecifiedMatching +DOID:0060135 apraxia oboInOwl:hasDbXref UMLS:C0003635 semapv:UnspecifiedMatching DOID:0060135 apraxia skos:exactMatch MESH:D001072 semapv:UnspecifiedMatching DOID:0060148 simultanagnosia oboInOwl:hasDbXref GARD:11943 semapv:UnspecifiedMatching DOID:0060155 visual agnosia oboInOwl:hasDbXref MESH:C531604 semapv:UnspecifiedMatching -DOID:0060155 visual agnosia oboInOwl:hasDbXref UMLS_CUI:C2930796 semapv:UnspecifiedMatching -DOID:0060157 diffuse alopecia areata oboInOwl:hasDbXref UMLS_CUI:C0263479 semapv:UnspecifiedMatching +DOID:0060155 visual agnosia oboInOwl:hasDbXref UMLS:C2930796 semapv:UnspecifiedMatching +DOID:0060157 diffuse alopecia areata oboInOwl:hasDbXref UMLS:C0263479 semapv:UnspecifiedMatching DOID:0060159 organic acidemia oboInOwl:hasDbXref GARD:9433 semapv:UnspecifiedMatching DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref GARD:7674 semapv:UnspecifiedMatching DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref NCI:C85076 semapv:UnspecifiedMatching DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref ORDO:70 semapv:UnspecifiedMatching -DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0700595 semapv:UnspecifiedMatching +DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0700595 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref GARD:6818 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref MESH:D055534 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref NCI:C85233 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref OMIM:313200 semapv:UnspecifiedMatching -DOID:0060161 Kennedy's disease oboInOwl:hasDbXref UMLS_CUI:C1839259 semapv:UnspecifiedMatching +DOID:0060161 Kennedy's disease oboInOwl:hasDbXref UMLS:C1839259 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease skos:exactMatch OMIM:313200 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref GARD:5643 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref NCI:C122653 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref OMIM:125370 semapv:UnspecifiedMatching -DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref UMLS_CUI:C0751781 semapv:UnspecifiedMatching +DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref UMLS:C0751781 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch MESH:D020191 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch NCI:C122653 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch OMIM:125370 semapv:UnspecifiedMatching -DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS_CUI:C0751781 semapv:UnspecifiedMatching +DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching DOID:0060165 Kleine-Levin syndrome oboInOwl:hasDbXref MESH:D017593 semapv:UnspecifiedMatching DOID:0060165 Kleine-Levin syndrome oboInOwl:hasDbXref OMIM:148840 semapv:UnspecifiedMatching DOID:0060165 Kleine-Levin syndrome skos:exactMatch OMIM:148840 semapv:UnspecifiedMatching @@ -1935,7 +1945,7 @@ DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref GARD:10975 semapv:U DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref ICD10CM:G43.8 semapv:UnspecifiedMatching DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref ICD9CM:346.8 semapv:UnspecifiedMatching DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref ORDO:569 semapv:UnspecifiedMatching -DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref UMLS_CUI:C0477373 semapv:UnspecifiedMatching +DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref UMLS:C0477373 semapv:UnspecifiedMatching DOID:0060179 Renpenning syndrome oboInOwl:hasDbXref ICD10CM:Q87.5 semapv:UnspecifiedMatching DOID:0060179 Renpenning syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching DOID:0060179 Renpenning syndrome oboInOwl:hasDbXref ORDO:3242 semapv:UnspecifiedMatching @@ -1944,49 +1954,49 @@ DOID:0060180 colitis oboInOwl:hasDbXref EFO:0003872 semapv:UnspecifiedMatching DOID:0060180 colitis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:0060180 colitis oboInOwl:hasDbXref MESH:D003092 semapv:UnspecifiedMatching DOID:0060180 colitis oboInOwl:hasDbXref NCI:C26723 semapv:UnspecifiedMatching -DOID:0060180 colitis oboInOwl:hasDbXref UMLS_CUI:C0009319 semapv:UnspecifiedMatching +DOID:0060180 colitis oboInOwl:hasDbXref UMLS:C0009319 semapv:UnspecifiedMatching DOID:0060181 ischemic colitis oboInOwl:hasDbXref ICD10CM:K55.9 semapv:UnspecifiedMatching DOID:0060181 ischemic colitis oboInOwl:hasDbXref MESH:D017091 semapv:UnspecifiedMatching -DOID:0060181 ischemic colitis oboInOwl:hasDbXref UMLS_CUI:C0162529 semapv:UnspecifiedMatching +DOID:0060181 ischemic colitis oboInOwl:hasDbXref UMLS:C0162529 semapv:UnspecifiedMatching DOID:0060182 microscopic colitis oboInOwl:hasDbXref ICD10CM:K52.83 semapv:UnspecifiedMatching DOID:0060182 microscopic colitis oboInOwl:hasDbXref MESH:D046728 semapv:UnspecifiedMatching DOID:0060182 microscopic colitis oboInOwl:hasDbXref NCI:C38504 semapv:UnspecifiedMatching DOID:0060182 microscopic colitis oboInOwl:hasDbXref ORDO:58220 semapv:UnspecifiedMatching -DOID:0060182 microscopic colitis oboInOwl:hasDbXref UMLS_CUI:C0400821 semapv:UnspecifiedMatching +DOID:0060182 microscopic colitis oboInOwl:hasDbXref UMLS:C0400821 semapv:UnspecifiedMatching DOID:0060183 collagenous colitis oboInOwl:hasDbXref GARD:6135 semapv:UnspecifiedMatching DOID:0060183 collagenous colitis oboInOwl:hasDbXref ICD10CM:K52.831 semapv:UnspecifiedMatching DOID:0060183 collagenous colitis oboInOwl:hasDbXref MEDDRA:10048928 semapv:UnspecifiedMatching DOID:0060183 collagenous colitis oboInOwl:hasDbXref MESH:D046729 semapv:UnspecifiedMatching DOID:0060183 collagenous colitis oboInOwl:hasDbXref NCI:C27021 semapv:UnspecifiedMatching -DOID:0060183 collagenous colitis oboInOwl:hasDbXref UMLS_CUI:C0238067 semapv:UnspecifiedMatching +DOID:0060183 collagenous colitis oboInOwl:hasDbXref UMLS:C0238067 semapv:UnspecifiedMatching DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref GARD:6939 semapv:UnspecifiedMatching DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref ICD10CM:K52.832 semapv:UnspecifiedMatching DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref MEDDRA:10025268 semapv:UnspecifiedMatching DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref MESH:D046730 semapv:UnspecifiedMatching DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref NCI:C27147 semapv:UnspecifiedMatching DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref ORDO:65279 semapv:UnspecifiedMatching -DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref UMLS_CUI:C0400822 semapv:UnspecifiedMatching +DOID:0060184 lymphocytic colitis oboInOwl:hasDbXref UMLS:C0400822 semapv:UnspecifiedMatching DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref ICD10CM:A04.7 semapv:UnspecifiedMatching DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref MEDDRA:10009657 semapv:UnspecifiedMatching DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref MESH:D004761 semapv:UnspecifiedMatching DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref NCI:C128347 semapv:UnspecifiedMatching -DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS_CUI:C0014358 semapv:UnspecifiedMatching -DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS_CUI:C0085819 semapv:UnspecifiedMatching -DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS_CUI:C1257843 semapv:UnspecifiedMatching -DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS_CUI:C1257844 semapv:UnspecifiedMatching -DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS_CUI:C1257845 semapv:UnspecifiedMatching +DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS:C0014358 semapv:UnspecifiedMatching +DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS:C0085819 semapv:UnspecifiedMatching +DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS:C1257843 semapv:UnspecifiedMatching +DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS:C1257844 semapv:UnspecifiedMatching +DOID:0060185 Clostridium difficile colitis oboInOwl:hasDbXref UMLS:C1257845 semapv:UnspecifiedMatching DOID:0060186 chemical colitis oboInOwl:hasDbXref ICD10CM:K52 semapv:UnspecifiedMatching DOID:0060186 chemical colitis oboInOwl:hasDbXref ICD9CM:558 semapv:UnspecifiedMatching -DOID:0060186 chemical colitis oboInOwl:hasDbXref UMLS_CUI:C0029512 semapv:UnspecifiedMatching +DOID:0060186 chemical colitis oboInOwl:hasDbXref UMLS:C0029512 semapv:UnspecifiedMatching DOID:0060187 diversion colitis oboInOwl:hasDbXref ICD10CM:K52 semapv:UnspecifiedMatching DOID:0060187 diversion colitis oboInOwl:hasDbXref ICD9CM:558 semapv:UnspecifiedMatching -DOID:0060187 diversion colitis oboInOwl:hasDbXref UMLS_CUI:C0029512 semapv:UnspecifiedMatching +DOID:0060187 diversion colitis oboInOwl:hasDbXref UMLS:C0029512 semapv:UnspecifiedMatching DOID:0060188 jejunoileitis oboInOwl:hasDbXref ICD10CM:K50.0 semapv:UnspecifiedMatching DOID:0060189 ileitis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:0060189 ileitis oboInOwl:hasDbXref MEDDRA:10021312 semapv:UnspecifiedMatching DOID:0060189 ileitis oboInOwl:hasDbXref MESH:D007079 semapv:UnspecifiedMatching DOID:0060189 ileitis oboInOwl:hasDbXref NCI:C84782 semapv:UnspecifiedMatching -DOID:0060189 ileitis oboInOwl:hasDbXref UMLS_CUI:C0020877 semapv:UnspecifiedMatching +DOID:0060189 ileitis oboInOwl:hasDbXref UMLS:C0020877 semapv:UnspecifiedMatching DOID:0060190 ileocolitis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:0060190 ileocolitis oboInOwl:hasDbXref MEDDRA:10062647 semapv:UnspecifiedMatching DOID:0060191 gastroduodenal Crohn's disease oboInOwl:hasDbXref ICD10CM:K50.0 semapv:UnspecifiedMatching @@ -1994,7 +2004,7 @@ DOID:0060192 Crohn's colitis oboInOwl:hasDbXref ICD10CM:K50.1 semapv:Unspecified DOID:0060192 Crohn's colitis oboInOwl:hasDbXref ICD9CM:555.1 semapv:UnspecifiedMatching DOID:0060192 Crohn's colitis oboInOwl:hasDbXref MESH:D003424 semapv:UnspecifiedMatching DOID:0060192 Crohn's colitis oboInOwl:hasDbXref NCI:C37262 semapv:UnspecifiedMatching -DOID:0060192 Crohn's colitis oboInOwl:hasDbXref UMLS_CUI:C0156147 semapv:UnspecifiedMatching +DOID:0060192 Crohn's colitis oboInOwl:hasDbXref UMLS:C0156147 semapv:UnspecifiedMatching DOID:0060193 amyotrophic lateral sclerosis type 1 oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching DOID:0060193 amyotrophic lateral sclerosis type 1 oboInOwl:hasDbXref OMIM:105400 semapv:UnspecifiedMatching DOID:0060193 amyotrophic lateral sclerosis type 1 skos:exactMatch OMIM:105400 semapv:UnspecifiedMatching @@ -2053,23 +2063,23 @@ DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref ICD10CM:G37.0 semapv:U DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref ICD9CM:341.1 semapv:UnspecifiedMatching DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref MESH:D002549 semapv:UnspecifiedMatching DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref NCI:C84670 semapv:UnspecifiedMatching -DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref UMLS_CUI:C0007795 semapv:UnspecifiedMatching +DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref UMLS:C0007795 semapv:UnspecifiedMatching DOID:0060216 Cogan syndrome oboInOwl:hasDbXref GARD:1421 semapv:UnspecifiedMatching DOID:0060216 Cogan syndrome oboInOwl:hasDbXref ICD10CM:H16.32 semapv:UnspecifiedMatching DOID:0060216 Cogan syndrome oboInOwl:hasDbXref MESH:D055952 semapv:UnspecifiedMatching DOID:0060216 Cogan syndrome oboInOwl:hasDbXref ORDO:1467 semapv:UnspecifiedMatching -DOID:0060216 Cogan syndrome oboInOwl:hasDbXref UMLS_CUI:C0271270 semapv:UnspecifiedMatching +DOID:0060216 Cogan syndrome oboInOwl:hasDbXref UMLS:C0271270 semapv:UnspecifiedMatching DOID:0060217 Cogan-Reese syndrome oboInOwl:hasDbXref GARD:6125 semapv:UnspecifiedMatching DOID:0060217 Cogan-Reese syndrome oboInOwl:hasDbXref MEDDRA:10059200 semapv:UnspecifiedMatching DOID:0060217 Cogan-Reese syndrome oboInOwl:hasDbXref NCI:C84644 semapv:UnspecifiedMatching DOID:0060217 Cogan-Reese syndrome oboInOwl:hasDbXref ORDO:98980 semapv:UnspecifiedMatching -DOID:0060217 Cogan-Reese syndrome oboInOwl:hasDbXref UMLS_CUI:C1168173 semapv:UnspecifiedMatching +DOID:0060217 Cogan-Reese syndrome oboInOwl:hasDbXref UMLS:C1168173 semapv:UnspecifiedMatching DOID:0060218 CREST syndrome oboInOwl:hasDbXref GARD:12430 semapv:UnspecifiedMatching DOID:0060218 CREST syndrome oboInOwl:hasDbXref ICD10CM:M34.1 semapv:UnspecifiedMatching DOID:0060218 CREST syndrome oboInOwl:hasDbXref MESH:D017675 semapv:UnspecifiedMatching DOID:0060218 CREST syndrome oboInOwl:hasDbXref NCI:C70646 semapv:UnspecifiedMatching -DOID:0060218 CREST syndrome oboInOwl:hasDbXref UMLS_CUI:C0206138 semapv:UnspecifiedMatching -DOID:0060218 CREST syndrome oboInOwl:hasDbXref UMLS_CUI:C1527226 semapv:UnspecifiedMatching +DOID:0060218 CREST syndrome oboInOwl:hasDbXref UMLS:C0206138 semapv:UnspecifiedMatching +DOID:0060218 CREST syndrome oboInOwl:hasDbXref UMLS:C1527226 semapv:UnspecifiedMatching DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref GARD:6958 semapv:UnspecifiedMatching DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref OMIM:614569 semapv:UnspecifiedMatching @@ -2086,7 +2096,7 @@ DOID:0060223 agraphia skos:exactMatch MESH:D000381 semapv:UnspecifiedMatching DOID:0060224 atrial fibrillation oboInOwl:hasDbXref ICD9CM:427.31 semapv:UnspecifiedMatching DOID:0060224 atrial fibrillation oboInOwl:hasDbXref MESH:D001281 semapv:UnspecifiedMatching DOID:0060224 atrial fibrillation oboInOwl:hasDbXref NCI:C50466 semapv:UnspecifiedMatching -DOID:0060224 atrial fibrillation oboInOwl:hasDbXref UMLS_CUI:C0004238 semapv:UnspecifiedMatching +DOID:0060224 atrial fibrillation oboInOwl:hasDbXref UMLS:C0004238 semapv:UnspecifiedMatching DOID:0060224 atrial fibrillation skos:exactMatch MESH:D001281 semapv:UnspecifiedMatching DOID:0060225 3MC syndrome oboInOwl:hasDbXref GARD:1118 semapv:UnspecifiedMatching DOID:0060225 3MC syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching @@ -2097,7 +2107,7 @@ DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref MESH:C538186 sem DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:201180 semapv:UnspecifiedMatching DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:239710 semapv:UnspecifiedMatching DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref ORDO:1784 semapv:UnspecifiedMatching -DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref UMLS_CUI:C1860118 semapv:UnspecifiedMatching +DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref UMLS:C1860118 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref GARD:5739 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:100300 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614219 semapv:UnspecifiedMatching @@ -2106,7 +2116,7 @@ DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:615297 semapv:Unspeci DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616028 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIMPS:100300 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref ORDO:974 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref UMLS_CUI:C0265268 semapv:UnspecifiedMatching +DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref UMLS:C0265268 semapv:UnspecifiedMatching DOID:0060228 intracranial berry aneurysm oboInOwl:hasDbXref OMIMPS:105800 semapv:UnspecifiedMatching DOID:0060228 intracranial berry aneurysm oboInOwl:hasDbXref ORDO:231160 semapv:UnspecifiedMatching DOID:0060228 intracranial berry aneurysm skos:exactMatch OMIMPS:105800 semapv:UnspecifiedMatching @@ -2119,7 +2129,7 @@ DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:114100 semapv:U DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:213600 semapv:UnspecifiedMatching DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:615007 semapv:UnspecifiedMatching DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:615483 semapv:UnspecifiedMatching -DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref UMLS_CUI:C0393590 semapv:UnspecifiedMatching +DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref UMLS:C0393590 semapv:UnspecifiedMatching DOID:0060231 Bruck syndrome oboInOwl:hasDbXref ICD10CM:M21.8 semapv:UnspecifiedMatching DOID:0060231 Bruck syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching DOID:0060231 Bruck syndrome oboInOwl:hasDbXref OMIM:609220 semapv:UnspecifiedMatching @@ -2143,29 +2153,29 @@ DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref NCI:C98873 semapv:Unspecified DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref OMIM:201000 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref OMIM:614976 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref ORDO:65759 semapv:UnspecifiedMatching -DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref UMLS_CUI:C1275078 semapv:UnspecifiedMatching +DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref UMLS:C1275078 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MESH:C535589 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref NCI:C114766 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ORDO:157 semapv:UnspecifiedMatching -DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS_CUI:C0342790 semapv:UnspecifiedMatching +DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS:C0342790 semapv:UnspecifiedMatching DOID:0060236 xanthinuria oboInOwl:hasDbXref ICD10CM:E79.8 semapv:UnspecifiedMatching DOID:0060236 xanthinuria oboInOwl:hasDbXref OMIMPS:278300 semapv:UnspecifiedMatching DOID:0060236 xanthinuria oboInOwl:hasDbXref ORDO:3467 semapv:UnspecifiedMatching -DOID:0060236 xanthinuria oboInOwl:hasDbXref UMLS_CUI:C0220988 semapv:UnspecifiedMatching +DOID:0060236 xanthinuria oboInOwl:hasDbXref UMLS:C0220988 semapv:UnspecifiedMatching DOID:0060236 xanthinuria skos:exactMatch OMIMPS:278300 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref MESH:C536681 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref OMIMPS:600118 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref ORDO:2510 semapv:UnspecifiedMatching -DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref UMLS_CUI:C1838625 semapv:UnspecifiedMatching +DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref UMLS:C1838625 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome skos:exactMatch OMIMPS:600118 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref GARD:5456 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref MESH:C536530 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref OMIMPS:601390 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref ORDO:314679 semapv:UnspecifiedMatching -DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref UMLS_CUI:C1832390 semapv:UnspecifiedMatching +DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref UMLS:C1832390 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome skos:exactMatch OMIMPS:601390 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref GARD:8414 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref ICD10CM:Q38.0 semapv:UnspecifiedMatching @@ -2175,8 +2185,8 @@ DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref NCI:C74986 semapv:Unspeci DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref OMIM:119300 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref OMIM:606713 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref ORDO:888 semapv:UnspecifiedMatching -DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref UMLS_CUI:C0175697 semapv:UnspecifiedMatching -DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref UMLS_CUI:C1834339 semapv:UnspecifiedMatching +DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref UMLS:C0175697 semapv:UnspecifiedMatching +DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref UMLS:C1834339 semapv:UnspecifiedMatching DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref MESH:C563466 semapv:UnspecifiedMatching DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:600630 semapv:UnspecifiedMatching DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614621 semapv:UnspecifiedMatching @@ -2189,8 +2199,8 @@ DOID:0060241 3-M syndrome oboInOwl:hasDbXref OMIM:273750 semapv:UnspecifiedMatch DOID:0060241 3-M syndrome oboInOwl:hasDbXref OMIM:612921 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref OMIM:614205 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref ORDO:2616 semapv:UnspecifiedMatching -DOID:0060241 3-M syndrome oboInOwl:hasDbXref UMLS_CUI:C1848862 semapv:UnspecifiedMatching -DOID:0060241 3-M syndrome oboInOwl:hasDbXref UMLS_CUI:C3280146 semapv:UnspecifiedMatching +DOID:0060241 3-M syndrome oboInOwl:hasDbXref UMLS:C1848862 semapv:UnspecifiedMatching +DOID:0060241 3-M syndrome oboInOwl:hasDbXref UMLS:C3280146 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref GARD:5087 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref MESH:C538153 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref NCI:C75003 semapv:UnspecifiedMatching @@ -2198,7 +2208,7 @@ DOID:0060242 synpolydactyly oboInOwl:hasDbXref OMIM:186000 semapv:UnspecifiedMat DOID:0060242 synpolydactyly oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref ORDO:295195 semapv:UnspecifiedMatching -DOID:0060242 synpolydactyly oboInOwl:hasDbXref UMLS_CUI:C2699746 semapv:UnspecifiedMatching +DOID:0060242 synpolydactyly oboInOwl:hasDbXref UMLS:C2699746 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref ICD10CM:F80.81 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref MESH:D013342 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref NCI:C35043 semapv:UnspecifiedMatching @@ -2206,13 +2216,13 @@ DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:184450 semapv:UnspecifiedMatchin DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:609261 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614655 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614668 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0038131 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0038506 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0454542 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0751527 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0751528 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0751529 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C3489627 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0038131 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0038506 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0454542 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0751527 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0751528 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0751529 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C3489627 semapv:UnspecifiedMatching DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:606711 semapv:UnspecifiedMatching DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:606712 semapv:UnspecifiedMatching DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:607134 semapv:UnspecifiedMatching @@ -2228,25 +2238,25 @@ DOID:0060246 MASA syndrome oboInOwl:hasDbXref MESH:C536029 semapv:UnspecifiedMat DOID:0060246 MASA syndrome oboInOwl:hasDbXref NCI:C129930 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref ORDO:2466 semapv:UnspecifiedMatching -DOID:0060246 MASA syndrome oboInOwl:hasDbXref UMLS_CUI:C0795953 semapv:UnspecifiedMatching +DOID:0060246 MASA syndrome oboInOwl:hasDbXref UMLS:C0795953 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome skos:exactMatch OMIM:303350 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref GARD:10620 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref MESH:C564589 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref OMIMPS:607326 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref ORDO:178355 semapv:UnspecifiedMatching -DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS_CUI:C1846431 semapv:UnspecifiedMatching +DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS:C1846431 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia skos:exactMatch OMIMPS:607326 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref GARD:7649 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref MESH:C537340 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref NCI:C118787 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref ORDO:373 semapv:UnspecifiedMatching -DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C0796154 semapv:UnspecifiedMatching +DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref UMLS:C0796154 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch OMIM:312870 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref ICD10CM:M41.9 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref MESH:D012600 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref NCI:C78603 semapv:UnspecifiedMatching -DOID:0060249 scoliosis oboInOwl:hasDbXref UMLS_CUI:C0036439 semapv:UnspecifiedMatching +DOID:0060249 scoliosis oboInOwl:hasDbXref UMLS:C0036439 semapv:UnspecifiedMatching DOID:0060249 scoliosis skos:exactMatch MESH:D012600 semapv:UnspecifiedMatching DOID:0060250 idiopathic scoliosis oboInOwl:hasDbXref GARD:552 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref GARD:4771 semapv:UnspecifiedMatching @@ -2254,12 +2264,12 @@ DOID:0060251 sclerosteosis oboInOwl:hasDbXref MESH:C537525 semapv:UnspecifiedMat DOID:0060251 sclerosteosis oboInOwl:hasDbXref NCI:C131133 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref OMIMPS:269500 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching -DOID:0060251 sclerosteosis oboInOwl:hasDbXref UMLS_CUI:C0265301 semapv:UnspecifiedMatching +DOID:0060251 sclerosteosis oboInOwl:hasDbXref UMLS:C0265301 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis skos:exactMatch OMIMPS:269500 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref MESH:C565209 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref OMIM:181700 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref ORDO:91490 semapv:UnspecifiedMatching -DOID:0060252 sclerocornea oboInOwl:hasDbXref UMLS_CUI:C1853235 semapv:UnspecifiedMatching +DOID:0060252 sclerocornea oboInOwl:hasDbXref UMLS:C1853235 semapv:UnspecifiedMatching DOID:0060252 sclerocornea skos:exactMatch OMIM:181700 semapv:UnspecifiedMatching DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref MESH:C536624 semapv:UnspecifiedMatching DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching @@ -2270,13 +2280,13 @@ DOID:0060254 Robinow syndrome oboInOwl:hasDbXref MESH:C562492 semapv:Unspecified DOID:0060254 Robinow syndrome oboInOwl:hasDbXref NCI:C85048 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref OMIMPS:268310 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref UMLS_CUI:C0265205 semapv:UnspecifiedMatching +DOID:0060254 Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome skos:exactMatch OMIMPS:268310 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref GARD:9164 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref ORDO:265 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref ORDO:97238 semapv:UnspecifiedMatching -DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref UMLS_CUI:C1853698 semapv:UnspecifiedMatching +DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref UMLS:C1853698 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 skos:exactMatch OMIM:606072 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref GARD:9775 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref MESH:C562924 semapv:UnspecifiedMatching @@ -2285,17 +2295,17 @@ DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615327 semapv:Unspeci DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615674 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615696 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref ORDO:79145 semapv:UnspecifiedMatching -DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref UMLS_CUI:C0406811 semapv:UnspecifiedMatching -DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref UMLS_CUI:C3714534 semapv:UnspecifiedMatching +DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching +DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C3714534 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MESH:C535729 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref NCI:C118435 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref OMIM:127400 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ORDO:41 semapv:UnspecifiedMatching -DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS_CUI:C0406775 semapv:UnspecifiedMatching +DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS:C0406775 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria skos:exactMatch OMIM:127400 semapv:UnspecifiedMatching DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref OMIM:615537 semapv:UnspecifiedMatching DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ORDO:178307 semapv:UnspecifiedMatching -DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS_CUI:C0406811 semapv:UnspecifiedMatching +DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching DOID:0060258 reticulate acropigmentation of Kitamura skos:exactMatch OMIM:615537 semapv:UnspecifiedMatching DOID:0060259 renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref MESH:C567142 semapv:UnspecifiedMatching DOID:0060259 renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:208540 semapv:UnspecifiedMatching @@ -2305,13 +2315,13 @@ DOID:0060260 ptosis oboInOwl:hasDbXref ICD10CM:H02.4 semapv:UnspecifiedMatching DOID:0060260 ptosis oboInOwl:hasDbXref ICD9CM:374.3 semapv:UnspecifiedMatching DOID:0060260 ptosis oboInOwl:hasDbXref MESH:D001763 semapv:UnspecifiedMatching DOID:0060260 ptosis oboInOwl:hasDbXref NCI:C27298 semapv:UnspecifiedMatching -DOID:0060260 ptosis oboInOwl:hasDbXref UMLS_CUI:C0005745 semapv:UnspecifiedMatching +DOID:0060260 ptosis oboInOwl:hasDbXref UMLS:C0005745 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref ICD10CM:Q10.0 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref ICD9CM:743.61 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref NCI:C27049 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref OMIM:178300 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref OMIM:300245 semapv:UnspecifiedMatching -DOID:0060261 congenital ptosis oboInOwl:hasDbXref UMLS_CUI:C0266573 semapv:UnspecifiedMatching +DOID:0060261 congenital ptosis oboInOwl:hasDbXref UMLS:C0266573 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref ICD10CM:K82.9 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref ICD9CM:575.9 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref MESH:D005705 semapv:UnspecifiedMatching @@ -2319,18 +2329,18 @@ DOID:0060262 gallbladder disease oboInOwl:hasDbXref NCI:C34631 semapv:Unspecifie DOID:0060262 gallbladder disease oboInOwl:hasDbXref OMIM:609918 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref OMIM:609919 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref OMIM:611465 semapv:UnspecifiedMatching -DOID:0060262 gallbladder disease oboInOwl:hasDbXref UMLS_CUI:C0016977 semapv:UnspecifiedMatching +DOID:0060262 gallbladder disease oboInOwl:hasDbXref UMLS:C0016977 semapv:UnspecifiedMatching DOID:0060263 porencephaly oboInOwl:hasDbXref GARD:7430 semapv:UnspecifiedMatching DOID:0060263 porencephaly oboInOwl:hasDbXref ICD10CM:Q04.6 semapv:UnspecifiedMatching DOID:0060263 porencephaly oboInOwl:hasDbXref MESH:D065708 semapv:UnspecifiedMatching DOID:0060263 porencephaly oboInOwl:hasDbXref ORDO:2940 semapv:UnspecifiedMatching -DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS_CUI:C0302892 semapv:UnspecifiedMatching -DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS_CUI:C1867983 semapv:UnspecifiedMatching -DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS_CUI:C3698507 semapv:UnspecifiedMatching +DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS:C0302892 semapv:UnspecifiedMatching +DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS:C1867983 semapv:UnspecifiedMatching +DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS:C3698507 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref GARD:10977 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref MESH:C580383 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref OMIMPS:607596 semapv:UnspecifiedMatching -DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0266468 semapv:UnspecifiedMatching +DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref UMLS:C0266468 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia skos:exactMatch OMIMPS:607596 semapv:UnspecifiedMatching DOID:0060265 pontocerebellar hypoplasia type 1A oboInOwl:hasDbXref OMIM:607596 semapv:UnspecifiedMatching DOID:0060265 pontocerebellar hypoplasia type 1A oboInOwl:hasDbXref ORDO:2254 semapv:UnspecifiedMatching @@ -2343,17 +2353,17 @@ DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref GARD:3631 sem DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref MESH:C564738 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref OMIM:277470 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching -DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref UMLS_CUI:C1848526 semapv:UnspecifiedMatching +DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref UMLS:C1848526 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A skos:exactMatch OMIM:277470 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref MESH:C567325 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref OMIM:612389 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching -DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref UMLS_CUI:C2676466 semapv:UnspecifiedMatching +DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref UMLS:C2676466 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B skos:exactMatch OMIM:612389 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref MESH:C567324 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref OMIM:612390 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching -DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref UMLS_CUI:C2676465 semapv:UnspecifiedMatching +DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref UMLS:C2676465 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C skos:exactMatch OMIM:612390 semapv:UnspecifiedMatching DOID:0060270 pontocerebellar hypoplasia type 2D oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0060270 pontocerebellar hypoplasia type 2D oboInOwl:hasDbXref OMIM:613811 semapv:UnspecifiedMatching @@ -2365,25 +2375,25 @@ DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref GARD:10708 sem DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref MESH:C548072 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref OMIM:608027 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ORDO:97249 semapv:UnspecifiedMatching -DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref UMLS_CUI:C1842687 semapv:UnspecifiedMatching +DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref UMLS:C1842687 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 skos:exactMatch OMIM:608027 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref GARD:343 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref MESH:C536716 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref OMIM:225753 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref ORDO:166063 semapv:UnspecifiedMatching -DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref UMLS_CUI:C1856974 semapv:UnspecifiedMatching +DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref UMLS:C1856974 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 skos:exactMatch OMIM:225753 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref GARD:10709 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref MESH:C537745 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref OMIM:610204 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ORDO:166068 semapv:UnspecifiedMatching -DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref UMLS_CUI:C1857762 semapv:UnspecifiedMatching +DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref UMLS:C1857762 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 skos:exactMatch OMIM:610204 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref GARD:10710 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref MESH:C548074 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref OMIM:611523 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref ORDO:166073 semapv:UnspecifiedMatching -DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref UMLS_CUI:C1969084 semapv:UnspecifiedMatching +DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref UMLS:C1969084 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 skos:exactMatch OMIM:611523 semapv:UnspecifiedMatching DOID:0060276 pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0060276 pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref OMIM:614969 semapv:UnspecifiedMatching @@ -2408,8 +2418,8 @@ DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:614190 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:615830 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ORDO:189439 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS_CUI:C1864846 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS_CUI:C1864851 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C1864846 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C1864851 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref GARD:5648 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 semapv:UnspecifiedMatching @@ -2421,7 +2431,7 @@ DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref NCI:C16 DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:221900 semapv:UnspecifiedMatching DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:611308 semapv:UnspecifiedMatching DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref ORDO:91495 semapv:UnspecifiedMatching -DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS_CUI:C0266568 semapv:UnspecifiedMatching +DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C0266568 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref MESH:C564818 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching @@ -2435,15 +2445,15 @@ DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref NCI:C61233 s DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ORDO:447 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C0019050 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C0024790 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C0086774 semapv:UnspecifiedMatching +DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0019050 semapv:UnspecifiedMatching +DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0024790 semapv:UnspecifiedMatching +DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0086774 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref MESH:C566826 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:168500 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:609566 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:609597 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref ORDO:60015 semapv:UnspecifiedMatching -DOID:0060285 parietal foramina oboInOwl:hasDbXref UMLS_CUI:C1868598 semapv:UnspecifiedMatching +DOID:0060285 parietal foramina oboInOwl:hasDbXref UMLS:C1868598 semapv:UnspecifiedMatching DOID:0060286 combined oxidative phosphorylation deficiency oboInOwl:hasDbXref GARD:12893 semapv:UnspecifiedMatching DOID:0060286 combined oxidative phosphorylation deficiency oboInOwl:hasDbXref OMIMPS:609060 semapv:UnspecifiedMatching DOID:0060286 combined oxidative phosphorylation deficiency skos:exactMatch OMIMPS:609060 semapv:UnspecifiedMatching @@ -2453,24 +2463,24 @@ DOID:0060287 cornea plana oboInOwl:hasDbXref OMIM:217300 semapv:UnspecifiedMatch DOID:0060287 cornea plana oboInOwl:hasDbXref ORDO:53691 semapv:UnspecifiedMatching DOID:0060288 omodysplasia oboInOwl:hasDbXref OMIMPS:258315 semapv:UnspecifiedMatching DOID:0060288 omodysplasia oboInOwl:hasDbXref ORDO:2733 semapv:UnspecifiedMatching -DOID:0060288 omodysplasia oboInOwl:hasDbXref UMLS_CUI:C4510897 semapv:UnspecifiedMatching +DOID:0060288 omodysplasia oboInOwl:hasDbXref UMLS:C4510897 semapv:UnspecifiedMatching DOID:0060288 omodysplasia skos:exactMatch OMIMPS:258315 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref MESH:C536232 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref OMIM:249620 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref OMIM:300895 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref ORDO:2728 semapv:UnspecifiedMatching -DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref UMLS_CUI:C0796094 semapv:UnspecifiedMatching +DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref UMLS:C0796094 semapv:UnspecifiedMatching DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref MESH:C536717 semapv:UnspecifiedMatching DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref OMIM:603736 semapv:UnspecifiedMatching DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref ORDO:3047 semapv:UnspecifiedMatching -DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref UMLS_CUI:C1863557 semapv:UnspecifiedMatching +DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref UMLS:C1863557 semapv:UnspecifiedMatching DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type skos:exactMatch OMIM:603736 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref GARD:7239 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref MESH:C563160 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:164200 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:257850 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref ORDO:2710 semapv:UnspecifiedMatching -DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref UMLS_CUI:C0812437 semapv:UnspecifiedMatching +DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref UMLS:C0812437 semapv:UnspecifiedMatching DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref MESH:C580533 semapv:UnspecifiedMatching DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref OMIM:302950 semapv:UnspecifiedMatching @@ -2484,7 +2494,7 @@ DOID:0060293 autosomal dominant chondrodysplasia punctata oboInOwl:hasDbXref ORD DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref MESH:C536214 semapv:UnspecifiedMatching DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref OMIMPS:272430 semapv:UnspecifiedMatching DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref ORDO:157820 semapv:UnspecifiedMatching -DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref UMLS_CUI:C1832409 semapv:UnspecifiedMatching +DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref UMLS:C1832409 semapv:UnspecifiedMatching DOID:0060294 cold-induced sweating syndrome skos:exactMatch OMIMPS:272430 semapv:UnspecifiedMatching DOID:0060295 complement component 2 deficiency oboInOwl:hasDbXref GARD:1452 semapv:UnspecifiedMatching DOID:0060295 complement component 2 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching @@ -2494,7 +2504,7 @@ DOID:0060295 complement component 2 deficiency skos:exactMatch OMIM:217000 semap DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref MESH:C536210 semapv:UnspecifiedMatching DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref OMIM:214700 semapv:UnspecifiedMatching DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref ORDO:53689 semapv:UnspecifiedMatching -DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref UMLS_CUI:C0267662 semapv:UnspecifiedMatching +DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref UMLS:C0267662 semapv:UnspecifiedMatching DOID:0060296 congenital secretory chloride diarrhea 1 skos:exactMatch OMIM:214700 semapv:UnspecifiedMatching DOID:0060297 complement component 4a deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching DOID:0060297 complement component 4a deficiency oboInOwl:hasDbXref MESH:C565167 semapv:UnspecifiedMatching @@ -2534,16 +2544,16 @@ DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:1275 DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:612715 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:615402 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref ORDO:241 semapv:UnspecifiedMatching -DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS_CUI:C2930995 semapv:UnspecifiedMatching +DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS:C2930995 semapv:UnspecifiedMatching DOID:0060305 megalocornea oboInOwl:hasDbXref OMIM:249300 semapv:UnspecifiedMatching DOID:0060305 megalocornea oboInOwl:hasDbXref OMIM:309300 semapv:UnspecifiedMatching DOID:0060305 megalocornea oboInOwl:hasDbXref ORDO:91489 semapv:UnspecifiedMatching -DOID:0060305 megalocornea oboInOwl:hasDbXref UMLS_CUI:C0344530 semapv:UnspecifiedMatching +DOID:0060305 megalocornea oboInOwl:hasDbXref UMLS:C0344530 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref GARD:2033 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref MESH:C538012 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref OMIMPS:224690 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref ORDO:2554 semapv:UnspecifiedMatching -DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref UMLS_CUI:C1868684 semapv:UnspecifiedMatching +DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref UMLS:C1868684 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome skos:exactMatch OMIMPS:224690 semapv:UnspecifiedMatching DOID:0060307 autosomal dominant intellectual developmental disorder oboInOwl:hasDbXref GARD:12107 semapv:UnspecifiedMatching DOID:0060307 autosomal dominant intellectual developmental disorder oboInOwl:hasDbXref OMIMPS:156200 semapv:UnspecifiedMatching @@ -2559,85 +2569,85 @@ DOID:0060310 uvulitis oboInOwl:hasDbXref MEDDRA:10051962 semapv:UnspecifiedMatch DOID:0060311 adenoid hypertrophy oboInOwl:hasDbXref ICD10CM:J35.2 semapv:UnspecifiedMatching DOID:0060311 adenoid hypertrophy oboInOwl:hasDbXref ICD9CM:474.12 semapv:UnspecifiedMatching DOID:0060311 adenoid hypertrophy oboInOwl:hasDbXref MEDDRA:10001229 semapv:UnspecifiedMatching -DOID:0060311 adenoid hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0149825 semapv:UnspecifiedMatching +DOID:0060311 adenoid hypertrophy oboInOwl:hasDbXref UMLS:C0149825 semapv:UnspecifiedMatching DOID:0060312 angular cheilitis oboInOwl:hasDbXref ICD10CM:K13.0 semapv:UnspecifiedMatching DOID:0060312 angular cheilitis oboInOwl:hasDbXref NCI:C112198 semapv:UnspecifiedMatching -DOID:0060312 angular cheilitis oboInOwl:hasDbXref UMLS_CUI:C0221237 semapv:UnspecifiedMatching +DOID:0060312 angular cheilitis oboInOwl:hasDbXref UMLS:C0221237 semapv:UnspecifiedMatching DOID:0060313 tracheomalacia oboInOwl:hasDbXref ICD10CM:Q32.0 semapv:UnspecifiedMatching DOID:0060313 tracheomalacia oboInOwl:hasDbXref MESH:C557675 semapv:UnspecifiedMatching DOID:0060313 tracheomalacia oboInOwl:hasDbXref ORDO:95430 semapv:UnspecifiedMatching -DOID:0060313 tracheomalacia oboInOwl:hasDbXref UMLS_CUI:C0392109 semapv:UnspecifiedMatching +DOID:0060313 tracheomalacia oboInOwl:hasDbXref UMLS:C0392109 semapv:UnspecifiedMatching DOID:0060315 oral hairy leukoplakia oboInOwl:hasDbXref ICD10CM:K13.3 semapv:UnspecifiedMatching DOID:0060315 oral hairy leukoplakia oboInOwl:hasDbXref MESH:D017733 semapv:UnspecifiedMatching DOID:0060315 oral hairy leukoplakia oboInOwl:hasDbXref NCI:C3722 semapv:UnspecifiedMatching -DOID:0060315 oral hairy leukoplakia oboInOwl:hasDbXref UMLS_CUI:C0206186 semapv:UnspecifiedMatching +DOID:0060315 oral hairy leukoplakia oboInOwl:hasDbXref UMLS:C0206186 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref MESH:D009958 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref NCI:C75481 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref OMIM:311200 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref ORDO:2750 semapv:UnspecifiedMatching -DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS_CUI:C0026363 semapv:UnspecifiedMatching -DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS_CUI:C0029294 semapv:UnspecifiedMatching -DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS_CUI:C1510460 semapv:UnspecifiedMatching +DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS:C0026363 semapv:UnspecifiedMatching +DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS:C0029294 semapv:UnspecifiedMatching +DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS:C1510460 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I skos:exactMatch OMIM:311200 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref ICD10CM:J85.2 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref ICD9CM:513.0 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref MESH:D008169 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref NCI:C99090 semapv:UnspecifiedMatching -DOID:0060317 lung abscess oboInOwl:hasDbXref UMLS_CUI:C0024110 semapv:UnspecifiedMatching +DOID:0060317 lung abscess oboInOwl:hasDbXref UMLS:C0024110 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref GARD:538 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref ICD10CM:C92.4 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref MESH:D015473 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref NCI:C3182 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref OMIM:612376 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref ORDO:520 semapv:UnspecifiedMatching -DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023487 semapv:UnspecifiedMatching +DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref UMLS:C0023487 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia skos:exactMatch OMIM:612376 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref ICD10CM:I46 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref ICD9CM:427.5 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref MESH:D006323 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref NCI:C50479 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref NCI:C50483 semapv:UnspecifiedMatching -DOID:0060319 cardiac arrest oboInOwl:hasDbXref UMLS_CUI:C0018790 semapv:UnspecifiedMatching -DOID:0060319 cardiac arrest oboInOwl:hasDbXref UMLS_CUI:C0600228 semapv:UnspecifiedMatching +DOID:0060319 cardiac arrest oboInOwl:hasDbXref UMLS:C0018790 semapv:UnspecifiedMatching +DOID:0060319 cardiac arrest oboInOwl:hasDbXref UMLS:C0600228 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref ICD10CM:K40 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref ICD9CM:550 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref MESH:D006552 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref NCI:C34690 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref NCI:C34691 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref NCI:C34692 semapv:UnspecifiedMatching -DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS_CUI:C0019294 semapv:UnspecifiedMatching -DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS_CUI:C0019295 semapv:UnspecifiedMatching -DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS_CUI:C0019296 semapv:UnspecifiedMatching +DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS:C0019294 semapv:UnspecifiedMatching +DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS:C0019295 semapv:UnspecifiedMatching +DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS:C0019296 semapv:UnspecifiedMatching DOID:0060321 umbilical hernia oboInOwl:hasDbXref ICD10CM:Q79.2 semapv:UnspecifiedMatching DOID:0060321 umbilical hernia oboInOwl:hasDbXref ICD9CM:756.72 semapv:UnspecifiedMatching DOID:0060321 umbilical hernia oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching DOID:0060321 umbilical hernia oboInOwl:hasDbXref NCI:C98997 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS_CUI:C0795690 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS_CUI:C1306503 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS:C1306503 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref ICD10CM:H70.9 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref ICD9CM:383.9 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref MESH:D008417 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref NCI:C128368 semapv:UnspecifiedMatching -DOID:0060322 mastoiditis oboInOwl:hasDbXref UMLS_CUI:C0024904 semapv:UnspecifiedMatching +DOID:0060322 mastoiditis oboInOwl:hasDbXref UMLS:C0024904 semapv:UnspecifiedMatching DOID:0060324 dental abscess oboInOwl:hasDbXref ICD10CM:K04.6 semapv:UnspecifiedMatching DOID:0060325 cervical polyp oboInOwl:hasDbXref ICD10CM:D26.9 semapv:UnspecifiedMatching DOID:0060325 cervical polyp oboInOwl:hasDbXref ICD9CM:219 semapv:UnspecifiedMatching -DOID:0060325 cervical polyp oboInOwl:hasDbXref UMLS_CUI:C0153996 semapv:UnspecifiedMatching +DOID:0060325 cervical polyp oboInOwl:hasDbXref UMLS:C0153996 semapv:UnspecifiedMatching DOID:0060326 myelomeningocele oboInOwl:hasDbXref ICD10CM:Q05 semapv:UnspecifiedMatching DOID:0060326 myelomeningocele oboInOwl:hasDbXref MESH:D008591 semapv:UnspecifiedMatching DOID:0060326 myelomeningocele oboInOwl:hasDbXref NCI:C101201 semapv:UnspecifiedMatching DOID:0060326 myelomeningocele oboInOwl:hasDbXref NCI:C98874 semapv:UnspecifiedMatching -DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS_CUI:C0025312 semapv:UnspecifiedMatching -DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS_CUI:C0086664 semapv:UnspecifiedMatching -DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS_CUI:C0751316 semapv:UnspecifiedMatching +DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS:C0025312 semapv:UnspecifiedMatching +DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS:C0086664 semapv:UnspecifiedMatching +DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS:C0751316 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref ICD10CM:Q79.2 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref ICD9CM:756.72 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref NCI:C98997 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatching -DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS_CUI:C0795690 semapv:UnspecifiedMatching -DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS_CUI:C1306503 semapv:UnspecifiedMatching +DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching +DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS:C1306503 semapv:UnspecifiedMatching DOID:0060327 omphalocele skos:exactMatch OMIM:164750 semapv:UnspecifiedMatching DOID:0060328 anal fistula oboInOwl:hasDbXref ICD10CM:K60.3 semapv:UnspecifiedMatching DOID:0060328 anal fistula oboInOwl:hasDbXref MESH:D012003 semapv:UnspecifiedMatching @@ -2646,7 +2656,7 @@ DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref ICD10CM:O00 semapv:Unspecified DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref ICD9CM:633 semapv:UnspecifiedMatching DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref MESH:D011271 semapv:UnspecifiedMatching DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref NCI:C34945 semapv:UnspecifiedMatching -DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref UMLS_CUI:C0032987 semapv:UnspecifiedMatching +DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref UMLS:C0032987 semapv:UnspecifiedMatching DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref GARD:5690 semapv:UnspecifiedMatching DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching @@ -2655,7 +2665,7 @@ DOID:0060330 Rapp-Hodgkin syndrome skos:exactMatch OMIM:129400 semapv:Unspecifie DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref GARD:12965 semapv:UnspecifiedMatching DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:614052 semapv:UnspecifiedMatching DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref ORDO:1194 semapv:UnspecifiedMatching -DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref UMLS_CUI:C4273660 semapv:UnspecifiedMatching +DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref UMLS:C4273660 semapv:UnspecifiedMatching DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:exactMatch OMIM:614052 semapv:UnspecifiedMatching DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 oboInOwl:hasDbXref OMIM:614053 semapv:UnspecifiedMatching DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:exactMatch OMIM:614053 semapv:UnspecifiedMatching @@ -2675,7 +2685,7 @@ DOID:0060336 3-methylglutaconic aciduria skos:exactMatch OMIMPS:250950 semapv:Un DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref MESH:C537943 semapv:UnspecifiedMatching DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref OMIM:609528 semapv:UnspecifiedMatching DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref ORDO:66631 semapv:UnspecifiedMatching -DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref UMLS_CUI:C1836033 semapv:UnspecifiedMatching +DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836033 semapv:UnspecifiedMatching DOID:0060337 CEDNIK syndrome skos:exactMatch OMIM:609528 semapv:UnspecifiedMatching DOID:0060339 chronic atrial and intestinal dysrhythmia oboInOwl:hasDbXref OMIM:616201 semapv:UnspecifiedMatching DOID:0060339 chronic atrial and intestinal dysrhythmia skos:exactMatch OMIM:616201 semapv:UnspecifiedMatching @@ -2690,39 +2700,39 @@ DOID:0060342 acromelic frontonasal dysostosis oboInOwl:hasDbXref OMIM:603671 sem DOID:0060342 acromelic frontonasal dysostosis oboInOwl:hasDbXref ORDO:1827 semapv:UnspecifiedMatching DOID:0060342 acromelic frontonasal dysostosis skos:exactMatch OMIM:603671 semapv:UnspecifiedMatching DOID:0060344 acrodermatitis chronica atrophicans oboInOwl:hasDbXref ICD9CM:701.8 semapv:UnspecifiedMatching -DOID:0060344 acrodermatitis chronica atrophicans oboInOwl:hasDbXref UMLS_CUI:C0029805 semapv:UnspecifiedMatching +DOID:0060344 acrodermatitis chronica atrophicans oboInOwl:hasDbXref UMLS:C0029805 semapv:UnspecifiedMatching DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref MESH:D016917 semapv:UnspecifiedMatching DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref NCI:C3477 semapv:UnspecifiedMatching -DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref UMLS_CUI:C0085434 semapv:UnspecifiedMatching +DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref UMLS:C0085434 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref GARD:8432 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref MESH:C538343 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref OMIM:255995 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref ORDO:168572 semapv:UnspecifiedMatching -DOID:0060346 Native American myopathy oboInOwl:hasDbXref UMLS_CUI:C1850625 semapv:UnspecifiedMatching +DOID:0060346 Native American myopathy oboInOwl:hasDbXref UMLS:C1850625 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy skos:exactMatch OMIM:255995 semapv:UnspecifiedMatching DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref MESH:C563159 semapv:UnspecifiedMatching DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref OMIM:102520 semapv:UnspecifiedMatching DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref OMIM:201310 semapv:UnspecifiedMatching -DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C3495490 semapv:UnspecifiedMatching +DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref UMLS:C3495490 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref GARD:411 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref MESH:C537157 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref NCI:C133727 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref OMIM:241410 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref ORDO:2323 semapv:UnspecifiedMatching -DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref UMLS_CUI:C1855840 semapv:UnspecifiedMatching +DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1855840 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch OMIM:241410 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref MESH:C537711 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref OMIM:152950 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref ORDO:2526 semapv:UnspecifiedMatching -DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref UMLS_CUI:C1835265 semapv:UnspecifiedMatching +DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref UMLS:C1835265 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation skos:exactMatch OMIM:152950 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:10666 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:546 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MESH:C538228 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref NCI:C121564 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 semapv:UnspecifiedMatching -DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268120 semapv:UnspecifiedMatching -DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C3665382 semapv:UnspecifiedMatching +DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268120 semapv:UnspecifiedMatching +DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C3665382 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency skos:exactMatch OMIM:614723 semapv:UnspecifiedMatching DOID:0060351 mitochondrial complex III deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:615157 semapv:UnspecifiedMatching DOID:0060351 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch OMIM:615157 semapv:UnspecifiedMatching @@ -2731,14 +2741,14 @@ DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref MESH:C563043 semapv:Unspeci DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref NCI:C129976 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref ORDO:261494 semapv:UnspecifiedMatching -DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0795833 semapv:UnspecifiedMatching +DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref UMLS:C0795833 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 skos:exactMatch OMIM:610253 semapv:UnspecifiedMatching DOID:0060353 acrofacial dysostosis Cincinnati type oboInOwl:hasDbXref OMIM:616462 semapv:UnspecifiedMatching DOID:0060353 acrofacial dysostosis Cincinnati type skos:exactMatch OMIM:616462 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref MESH:C566108 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref OMIM:185070 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref ORDO:3204 semapv:UnspecifiedMatching -DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref UMLS_CUI:C1861451 semapv:UnspecifiedMatching +DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref UMLS:C1861451 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome skos:exactMatch OMIM:185070 semapv:UnspecifiedMatching DOID:0060355 amyotrophic lateral sclerosis type 22 oboInOwl:hasDbXref OMIM:616208 semapv:UnspecifiedMatching DOID:0060355 amyotrophic lateral sclerosis type 22 skos:exactMatch OMIM:616208 semapv:UnspecifiedMatching @@ -2747,24 +2757,24 @@ DOID:0060356 Vici syndrome oboInOwl:hasDbXref MESH:C535566 semapv:UnspecifiedMat DOID:0060356 Vici syndrome oboInOwl:hasDbXref NCI:C138174 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref OMIM:242840 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref ORDO:1493 semapv:UnspecifiedMatching -DOID:0060356 Vici syndrome oboInOwl:hasDbXref UMLS_CUI:C1855772 semapv:UnspecifiedMatching +DOID:0060356 Vici syndrome oboInOwl:hasDbXref UMLS:C1855772 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome skos:exactMatch OMIM:242840 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref GARD:9683 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref ICD10CM:E78.3 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref MESH:C535460 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref OMIM:246700 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref ORDO:71 semapv:UnspecifiedMatching -DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref UMLS_CUI:C0795956 semapv:UnspecifiedMatching +DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref UMLS:C0795956 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease skos:exactMatch OMIM:246700 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10CM:E71.313 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054069 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref NCI:C84907 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26791 semapv:UnspecifiedMatching -DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268596 semapv:UnspecifiedMatching -DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C1856401 semapv:UnspecifiedMatching -DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C1856403 semapv:UnspecifiedMatching -DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C1856405 semapv:UnspecifiedMatching +DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268596 semapv:UnspecifiedMatching +DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1856401 semapv:UnspecifiedMatching +DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1856403 semapv:UnspecifiedMatching +DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1856405 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231680 semapv:UnspecifiedMatching DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref GARD:115 semapv:UnspecifiedMatching DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching @@ -2776,15 +2786,15 @@ DOID:0060360 hereditary papulotranslucent acrokeratoderma oboInOwl:hasDbXref MES DOID:0060360 hereditary papulotranslucent acrokeratoderma oboInOwl:hasDbXref OMIM:101840 semapv:UnspecifiedMatching DOID:0060360 hereditary papulotranslucent acrokeratoderma skos:exactMatch OMIM:101840 semapv:UnspecifiedMatching DOID:0060361 punctate palmoplantar keratoderma oboInOwl:hasDbXref ORDO:307967 semapv:UnspecifiedMatching -DOID:0060361 punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS_CUI:C1274216 semapv:UnspecifiedMatching +DOID:0060361 punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1274216 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref MESH:C535653 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref OMIM:101850 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref ORDO:38 semapv:UnspecifiedMatching -DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref UMLS_CUI:C0545044 semapv:UnspecifiedMatching +DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref UMLS:C0545044 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III skos:exactMatch OMIM:101850 semapv:UnspecifiedMatching DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref ORDO:408 semapv:UnspecifiedMatching -DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0574108 semapv:UnspecifiedMatching +DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0574108 semapv:UnspecifiedMatching DOID:0060363 glycerol kinase deficiency skos:exactMatch OMIM:307030 semapv:UnspecifiedMatching DOID:0060364 Galloway-Mowat syndrome 1 oboInOwl:hasDbXref OMIM:251300 semapv:UnspecifiedMatching DOID:0060364 Galloway-Mowat syndrome 1 skos:exactMatch OMIM:251300 semapv:UnspecifiedMatching @@ -2795,7 +2805,7 @@ DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref MESH:C537255 semapv:Unspecifie DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref OMIM:235510 semapv:UnspecifiedMatching DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref OMIM:616006 semapv:UnspecifiedMatching DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref ORDO:2136 semapv:UnspecifiedMatching -DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref UMLS_CUI:C0340834 semapv:UnspecifiedMatching +DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref UMLS:C0340834 semapv:UnspecifiedMatching DOID:0060367 Parkinson's disease 1 oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching DOID:0060367 Parkinson's disease 1 skos:exactMatch OMIM:168601 semapv:UnspecifiedMatching DOID:0060368 Parkinson's disease 2 oboInOwl:hasDbXref OMIM:600116 semapv:UnspecifiedMatching @@ -2811,24 +2821,24 @@ DOID:0060372 Parkinson's disease 15 skos:exactMatch OMIM:260300 semapv:Unspecifi DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref MESH:C557817 semapv:UnspecifiedMatching DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref OMIM:258850 semapv:UnspecifiedMatching DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref ORDO:2752 semapv:UnspecifiedMatching -DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref UMLS_CUI:C0406726 semapv:UnspecifiedMatching +DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref UMLS:C0406726 semapv:UnspecifiedMatching DOID:0060373 orofaciodigital syndrome III skos:exactMatch OMIM:258850 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref MESH:C537133 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref OMIM:258860 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref ORDO:2753 semapv:UnspecifiedMatching -DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref UMLS_CUI:C0406727 semapv:UnspecifiedMatching +DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref UMLS:C0406727 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV skos:exactMatch OMIM:258860 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref MESH:C557819 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref OMIM:174300 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref ORDO:2919 semapv:UnspecifiedMatching -DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref UMLS_CUI:C1868118 semapv:UnspecifiedMatching +DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref UMLS:C1868118 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V skos:exactMatch OMIM:174300 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref GARD:4412 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref MESH:C536531 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref NCI:C124841 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref OMIM:277170 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref ORDO:2754 semapv:UnspecifiedMatching -DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref UMLS_CUI:C2745997 semapv:UnspecifiedMatching +DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref UMLS:C2745997 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect skos:exactMatch OMIM:277170 semapv:UnspecifiedMatching DOID:0060377 orofaciodigital syndrome VII oboInOwl:hasDbXref MESH:C563104 semapv:UnspecifiedMatching DOID:0060377 orofaciodigital syndrome VII oboInOwl:hasDbXref OMIM:608518 semapv:UnspecifiedMatching @@ -2837,7 +2847,7 @@ DOID:0060377 orofaciodigital syndrome VII skos:exactMatch OMIM:608518 semapv:Uns DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref MESH:C557820 semapv:UnspecifiedMatching DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref OMIM:300484 semapv:UnspecifiedMatching DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref ORDO:2755 semapv:UnspecifiedMatching -DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref UMLS_CUI:C0796101 semapv:UnspecifiedMatching +DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref UMLS:C0796101 semapv:UnspecifiedMatching DOID:0060378 orofaciodigital syndrome VIII skos:exactMatch OMIM:300484 semapv:UnspecifiedMatching DOID:0060380 orofaciodigital syndrome X oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0060380 orofaciodigital syndrome X oboInOwl:hasDbXref MESH:C563491 semapv:UnspecifiedMatching @@ -2847,42 +2857,42 @@ DOID:0060380 orofaciodigital syndrome X skos:exactMatch OMIM:165590 semapv:Unspe DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref MESH:C557821 semapv:UnspecifiedMatching DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref OMIM:612913 semapv:UnspecifiedMatching DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref ORDO:141000 semapv:UnspecifiedMatching -DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref UMLS_CUI:C2752048 semapv:UnspecifiedMatching +DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref UMLS:C2752048 semapv:UnspecifiedMatching DOID:0060381 orofaciodigital syndrome XI skos:exactMatch OMIM:612913 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref GARD:10520 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref MESH:C557818 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref OMIM:258865 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref ORDO:141007 semapv:UnspecifiedMatching -DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref UMLS_CUI:C0796102 semapv:UnspecifiedMatching +DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref UMLS:C0796102 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX skos:exactMatch OMIM:258865 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref GARD:496 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref MESH:C538183 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref OMIM:201170 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref ORDO:1788 semapv:UnspecifiedMatching -DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref UMLS_CUI:C1860119 semapv:UnspecifiedMatching +DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref UMLS:C1860119 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type skos:exactMatch OMIM:201170 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref GARD:494 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref MESH:C538182 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref OMIM:101805 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref ORDO:1786 semapv:UnspecifiedMatching -DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref UMLS_CUI:C2931762 semapv:UnspecifiedMatching +DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref UMLS:C2931762 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type skos:exactMatch OMIM:101805 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref MESH:C538185 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref OMIM:601829 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref ORDO:1787 semapv:UnspecifiedMatching -DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref UMLS_CUI:C1866168 semapv:UnspecifiedMatching +DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref UMLS:C1866168 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type skos:exactMatch OMIM:601829 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref MESH:C535924 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref OMIM:610448 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref OMIM:614415 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref ORDO:90280 semapv:UnspecifiedMatching -DOID:0060386 Chilblain lupus oboInOwl:hasDbXref UMLS_CUI:C0024145 semapv:UnspecifiedMatching +DOID:0060386 Chilblain lupus oboInOwl:hasDbXref UMLS:C0024145 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref GARD:914 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref MESH:C537914 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref NCI:C131420 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref OMIM:215045 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref ORDO:50945 semapv:UnspecifiedMatching -DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref UMLS_CUI:C1859148 semapv:UnspecifiedMatching +DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref UMLS:C1859148 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type skos:exactMatch OMIM:215045 semapv:UnspecifiedMatching DOID:0060389 chromosome 10q23 deletion syndrome oboInOwl:hasDbXref MESH:C567385 semapv:UnspecifiedMatching DOID:0060389 chromosome 10q23 deletion syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching @@ -2901,7 +2911,7 @@ DOID:0060392 chromosome 14q11-q22 deletion syndrome oboInOwl:hasDbXref ORDO:2611 DOID:0060392 chromosome 14q11-q22 deletion syndrome skos:exactMatch OMIM:613457 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:615656 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261183 semapv:UnspecifiedMatching -DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C3180937 semapv:UnspecifiedMatching +DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref UMLS:C3180937 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome skos:exactMatch OMIM:615656 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref GARD:10296 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching @@ -2922,10 +2932,16 @@ DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref MESH:C56 DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref OMIM:612626 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref ORDO:1596 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome skos:exactMatch OMIM:612626 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613444 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261222 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome skos:exactMatch OMIM:613444 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref OMIM:613444 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref ORDO:261222 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref UMLS:C3150701 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref UMLS:C4518824 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:broadMatch ICD10CM:Q93.5 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch OMIM:613444 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch OMIM:613444 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch ORDO:261222 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch UMLS:C3150701 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch UMLS:C4518824 semapv:UnspecifiedMatching DOID:0060399 chromosome 16p12.1 deletion syndrome oboInOwl:hasDbXref OMIM:136570 semapv:UnspecifiedMatching DOID:0060399 chromosome 16p12.1 deletion syndrome skos:exactMatch OMIM:136570 semapv:UnspecifiedMatching DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching @@ -2958,7 +2974,7 @@ DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref MESH:C538309 se DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref NCI:C84521 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref OMIM:146390 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref ORDO:1598 semapv:UnspecifiedMatching -DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C0432442 semapv:UnspecifiedMatching +DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref UMLS:C0432442 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome skos:exactMatch OMIM:146390 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref MESH:C536580 semapv:UnspecifiedMatching @@ -2969,7 +2985,7 @@ DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref GARD:10592 DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref MESH:C567810 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref OMIM:613026 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref ORDO:217346 semapv:UnspecifiedMatching -DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C2751651 semapv:UnspecifiedMatching +DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref UMLS:C2751651 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome skos:exactMatch OMIM:613026 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref MESH:C535594 semapv:UnspecifiedMatching @@ -2981,7 +2997,7 @@ DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref MESH:C535362 s DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref NCI:C74983 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref ORDO:1606 semapv:UnspecifiedMatching -DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C1842870 semapv:UnspecifiedMatching +DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref UMLS:C1842870 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome skos:exactMatch OMIM:607872 semapv:UnspecifiedMatching DOID:0060411 chromosome 1q21.1 deletion syndrome oboInOwl:hasDbXref GARD:10813 semapv:UnspecifiedMatching DOID:0060411 chromosome 1q21.1 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching @@ -3015,7 +3031,7 @@ DOID:0060417 3p deletion syndrome skos:exactMatch OMIM:613792 semapv:Unspecified DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref MESH:C536808 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref OMIM:615433 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref ORDO:1621 semapv:UnspecifiedMatching -DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C2931338 semapv:UnspecifiedMatching +DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref UMLS:C2931338 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome skos:exactMatch OMIM:615433 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref GARD:11974 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref MESH:C567184 semapv:UnspecifiedMatching @@ -3097,12 +3113,12 @@ DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref MESH:C562687 semap DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref NCI:C121563 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref OMIM:222700 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref ORDO:470 semapv:UnspecifiedMatching -DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref UMLS_CUI:C0268647 semapv:UnspecifiedMatching +DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref UMLS:C0268647 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance skos:exactMatch OMIM:222700 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref MESH:C535474 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref OMIM:607541 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref ORDO:98963 semapv:UnspecifiedMatching -DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1275685 semapv:UnspecifiedMatching +DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref UMLS:C1275685 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 skos:exactMatch OMIM:607541 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref MESH:C566452 semapv:UnspecifiedMatching @@ -3122,13 +3138,13 @@ DOID:0060447 epithelial basement membrane dystrophy skos:exactMatch OMIM:121820 DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref MESH:C563256 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref ORDO:98970 semapv:UnspecifiedMatching -DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C1562113 semapv:UnspecifiedMatching +DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS:C1562113 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy skos:exactMatch OMIM:121850 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref NCI:C142805 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ORDO:98957 semapv:UnspecifiedMatching -DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339273 semapv:UnspecifiedMatching +DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS:C0339273 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy skos:exactMatch OMIM:204870 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref MESH:C567588 semapv:UnspecifiedMatching @@ -3142,7 +3158,7 @@ DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref MESH:D053559 semapv:U DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref NCI:C84795 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIMPS:122100 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref ORDO:98954 semapv:UnspecifiedMatching -DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339277 semapv:UnspecifiedMatching +DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS:C0339277 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy skos:exactMatch OMIMPS:122100 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref MESH:C567546 semapv:UnspecifiedMatching @@ -3152,7 +3168,7 @@ DOID:0060452 posterior amorphous corneal dystrophy skos:exactMatch OMIM:612868 s DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref ORDO:98961 semapv:UnspecifiedMatching -DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339278 semapv:UnspecifiedMatching +DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref UMLS:C0339278 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy skos:exactMatch OMIM:608470 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref MESH:C567547 semapv:UnspecifiedMatching @@ -3162,13 +3178,13 @@ DOID:0060454 subepithelial mucinous corneal dystrophy skos:exactMatch OMIM:61286 DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ORDO:98960 semapv:UnspecifiedMatching -DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C1562894 semapv:UnspecifiedMatching +DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS:C1562894 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:602082 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref GARD:9277 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref ORDO:98967 semapv:UnspecifiedMatching -DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0271287 semapv:UnspecifiedMatching +DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy skos:exactMatch OMIM:121800 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref MESH:C562745 semapv:UnspecifiedMatching @@ -3199,9 +3215,9 @@ DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref NCI:C124056 semapv:Unspecif DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref OMIM:251450 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref OMIM:615777 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref ORDO:1425 semapv:UnspecifiedMatching -DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref UMLS_CUI:C0432242 semapv:UnspecifiedMatching +DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref UMLS:C0432242 semapv:UnspecifiedMatching DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref NCI:C45716 semapv:UnspecifiedMatching -DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref UMLS_CUI:C1707291 semapv:UnspecifiedMatching +DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref UMLS:C1707291 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref GARD:8407 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref MESH:C537734 semapv:UnspecifiedMatching @@ -3212,7 +3228,7 @@ DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref GARD:2321 semapv:Unspecified DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref MESH:C562524 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref OMIMPS:228520 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref ORDO:2021 semapv:UnspecifiedMatching -DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref UMLS_CUI:C0265282 semapv:UnspecifiedMatching +DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref UMLS:C0265282 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis skos:exactMatch OMIMPS:228520 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref MESH:C562884 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:135300 semapv:UnspecifiedMatching @@ -3220,7 +3236,7 @@ DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:605544 semapv:Unspeci DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:611010 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref ORDO:2024 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0399440 semapv:UnspecifiedMatching +DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref UMLS:C0399440 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref GARD:2748 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref MESH:C535284 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref OMIM:143050 semapv:UnspecifiedMatching @@ -3232,14 +3248,14 @@ DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref MESH:C535326 semapv:Unspecifi DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref NCI:C125592 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref ORDO:392 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref UMLS_CUI:C0265264 semapv:UnspecifiedMatching +DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref UMLS:C0265264 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome skos:exactMatch OMIM:142900 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref ICD10CM:Q93.88 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref NCI:C124852 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref OMIM:247200 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref ORDO:531 semapv:UnspecifiedMatching -DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref UMLS_CUI:C0265219 semapv:UnspecifiedMatching +DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref UMLS:C0265219 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome skos:exactMatch OMIM:247200 semapv:UnspecifiedMatching DOID:0060470 salt and pepper syndrome oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching DOID:0060470 salt and pepper syndrome oboInOwl:hasDbXref ORDO:370938 semapv:UnspecifiedMatching @@ -3248,7 +3264,7 @@ DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref MESH:C536525 semapv:Uns DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref NCI:C98930 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref OMIM:609442 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref ORDO:1906 semapv:UnspecifiedMatching -DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref UMLS_CUI:C0236026 semapv:UnspecifiedMatching +DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref UMLS:C0236026 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome skos:exactMatch OMIM:609442 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref GARD:4391 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref MESH:C536321 semapv:UnspecifiedMatching @@ -3261,7 +3277,7 @@ DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref NCI:C124837 semapv:UnspecifiedMa DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:147920 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:300867 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref ORDO:2322 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref UMLS_CUI:C0796004 semapv:UnspecifiedMatching +DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref UMLS:C0796004 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref OMIM:263400 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref ORDO:238557 semapv:UnspecifiedMatching @@ -3289,7 +3305,7 @@ DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref GARD:9849 semapv:Un DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref MESH:C537279 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref OMIM:609460 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref ORDO:66629 semapv:UnspecifiedMatching -DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref UMLS_CUI:C1836123 semapv:UnspecifiedMatching +DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref UMLS:C1836123 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome skos:exactMatch OMIM:609460 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref MESH:C567416 semapv:UnspecifiedMatching @@ -3302,14 +3318,14 @@ DOID:0060483 MEDNIK syndrome skos:exactMatch OMIM:609313 semapv:UnspecifiedMatch DOID:0060484 EAST syndrome oboInOwl:hasDbXref MESH:C557674 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref OMIM:612780 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref ORDO:199343 semapv:UnspecifiedMatching -DOID:0060484 EAST syndrome oboInOwl:hasDbXref UMLS_CUI:C2748572 semapv:UnspecifiedMatching +DOID:0060484 EAST syndrome oboInOwl:hasDbXref UMLS:C2748572 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome skos:exactMatch OMIM:612780 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref GARD:9673 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref NCI:C74999 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref ORDO:2152 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS_CUI:C1856113 semapv:UnspecifiedMatching +DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS:C1856113 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome skos:exactMatch OMIM:235730 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref GARD:10453 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref MESH:C566822 semapv:UnspecifiedMatching @@ -3321,14 +3337,14 @@ DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref MESH:C537403 semapv:Unspec DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref NCI:C129872 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref OMIM:610954 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref ORDO:2896 semapv:UnspecifiedMatching -DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS_CUI:C1970431 semapv:UnspecifiedMatching +DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS:C1970431 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome skos:exactMatch OMIM:610954 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref GARD:4984 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref NCI:C135087 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref OMIM:242900 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ORDO:1830 semapv:UnspecifiedMatching -DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS_CUI:C0877024 semapv:UnspecifiedMatching +DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0877024 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia skos:exactMatch OMIM:242900 semapv:UnspecifiedMatching DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref MESH:C563702 semapv:UnspecifiedMatching @@ -3345,7 +3361,7 @@ DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref GARD:3908 sem DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref ORDO:2609 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS_CUI:C1838979 semapv:UnspecifiedMatching +DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS:C1838979 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref GARD:5053 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ICD10CM:G71.3 semapv:UnspecifiedMatching @@ -3376,18 +3392,18 @@ DOID:0060546 Hermansky-Pudlak syndrome 8 skos:exactMatch OMIM:614077 semapv:Unsp DOID:0060547 Hermansky-Pudlak syndrome 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching DOID:0060547 Hermansky-Pudlak syndrome 9 skos:exactMatch OMIM:614171 semapv:UnspecifiedMatching DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref NCI:C53554 semapv:UnspecifiedMatching -DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref UMLS_CUI:C3642345 semapv:UnspecifiedMatching +DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref UMLS:C3642345 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref GARD:819 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref OMIM:209885 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref ORDO:1231 semapv:UnspecifiedMatching -DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref UMLS_CUI:C1319466 semapv:UnspecifiedMatching +DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref UMLS:C1319466 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome skos:exactMatch OMIM:209885 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref GARD:3 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref MESH:C535557 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref OMIM:200110 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref ORDO:920 semapv:UnspecifiedMatching -DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS_CUI:C1860224 semapv:UnspecifiedMatching +DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS:C1860224 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome skos:exactMatch OMIM:200110 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref GARD:4085 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching @@ -3398,7 +3414,7 @@ DOID:0060551 poikiloderma with neutropenia skos:exactMatch OMIM:604173 semapv:Un DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref MESH:C537177 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref ORDO:306674 semapv:UnspecifiedMatching -DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS_CUI:C1847640 semapv:UnspecifiedMatching +DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS:C1847640 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome skos:exactMatch OMIM:606693 semapv:UnspecifiedMatching DOID:0060557 ataxia with oculomotor apraxia type 3 oboInOwl:hasDbXref OMIM:615217 semapv:UnspecifiedMatching DOID:0060557 ataxia with oculomotor apraxia type 3 skos:exactMatch OMIM:615217 semapv:UnspecifiedMatching @@ -3411,7 +3427,7 @@ DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref GARD:32 DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref MESH:C537194 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref OMIM:253310 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref ORDO:1486 semapv:UnspecifiedMatching -DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C1854664 semapv:UnspecifiedMatching +DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref UMLS:C1854664 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 skos:exactMatch OMIM:253310 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref GARD:9177 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref MESH:C564369 semapv:UnspecifiedMatching @@ -3426,18 +3442,18 @@ DOID:0060563 Char syndrome skos:exactMatch OMIM:169100 semapv:UnspecifiedMatchin DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref MESH:C535313 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref OMIMPS:220210 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching -DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref UMLS_CUI:C0796137 semapv:UnspecifiedMatching +DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref UMLS:C0796137 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome skos:exactMatch OMIMPS:220210 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref MESH:C535327 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref OMIM:236110 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref ORDO:2167 semapv:UnspecifiedMatching -DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref UMLS_CUI:C1856095 semapv:UnspecifiedMatching +DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref UMLS:C1856095 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome skos:exactMatch OMIM:236110 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref GARD:8653 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ICD10CM:L95.1 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ORDO:90000 semapv:UnspecifiedMatching -DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref UMLS_CUI:C0263398 semapv:UnspecifiedMatching +DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref UMLS:C0263398 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref GARD:8585 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref MESH:C535572 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref OMIM:239850 semapv:UnspecifiedMatching @@ -3453,13 +3469,13 @@ DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref ICD10CM:D68.01 semapv DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref MESH:D056725 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref NCI:C131685 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching -DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref UMLS_CUI:C1264039 semapv:UnspecifiedMatching +DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref UMLS:C1264039 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 skos:exactMatch OMIM:193400 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ICD10CM:D68.02 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ORDO:166081 semapv:UnspecifiedMatching -DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref UMLS_CUI:C1264040 semapv:UnspecifiedMatching +DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref UMLS:C1264040 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 skos:exactMatch OMIM:613554 semapv:UnspecifiedMatching DOID:0060575 3MC syndrome 1 oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching DOID:0060575 3MC syndrome 1 skos:exactMatch OMIM:257920 semapv:UnspecifiedMatching @@ -3505,7 +3521,7 @@ DOID:0060588 Noonan syndrome 10 skos:exactMatch OMIM:616564 semapv:UnspecifiedMa DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref GARD:331 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref MESH:C536719 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching -DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS_CUI:C1857663 semapv:UnspecifiedMatching +DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS:C1857663 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome skos:exactMatch OMIM:216340 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref GARD:10628 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref MESH:C567043 semapv:UnspecifiedMatching @@ -3515,7 +3531,7 @@ DOID:0060591 WHIM syndrome oboInOwl:hasDbXref GARD:9297 semapv:UnspecifiedMatchi DOID:0060591 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref NCI:C176819 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref UMLS_CUI:C0472817 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome skos:exactMatch OMIM:193670 semapv:UnspecifiedMatching DOID:0060592 B-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9143 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD10CM:C92.2 semapv:UnspecifiedMatching @@ -3524,12 +3540,12 @@ DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDb DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref MESH:D054438 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref NCI:C3519 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ORDO:98824 semapv:UnspecifiedMatching -DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref UMLS_CUI:C1292772 semapv:UnspecifiedMatching +DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref UMLS:C1292772 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref GARD:7161 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref MESH:C538336 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref OMIM:302350 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref ORDO:627 semapv:UnspecifiedMatching -DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref UMLS_CUI:C0796085 semapv:UnspecifiedMatching +DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref UMLS:C0796085 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome skos:exactMatch OMIM:302350 semapv:UnspecifiedMatching DOID:0060601 alpha-2-plasmin inhibitor deficiency oboInOwl:hasDbXref ICD10CM:D68.8 semapv:UnspecifiedMatching DOID:0060601 alpha-2-plasmin inhibitor deficiency oboInOwl:hasDbXref OMIM:262850 semapv:UnspecifiedMatching @@ -3560,7 +3576,7 @@ DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl: DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref NCI:C98982 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:155310 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ORDO:2241 semapv:UnspecifiedMatching -DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref UMLS_CUI:C1608393 semapv:UnspecifiedMatching +DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref UMLS:C1608393 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIM:155310 semapv:UnspecifiedMatching DOID:0060611 abdominal obesity-metabolic syndrome oboInOwl:hasDbXref GARD:9226 semapv:UnspecifiedMatching DOID:0060611 abdominal obesity-metabolic syndrome oboInOwl:hasDbXref MESH:C535554 semapv:UnspecifiedMatching @@ -3575,7 +3591,7 @@ DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref GARD:118 semapv:Unspecifi DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref MESH:C536937 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref OMIM:181450 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref ORDO:3138 semapv:UnspecifiedMatching -DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref UMLS_CUI:C1866994 semapv:UnspecifiedMatching +DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref UMLS:C1866994 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome skos:exactMatch OMIM:181450 semapv:UnspecifiedMatching DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism oboInOwl:hasDbXref OMIM:610199 semapv:UnspecifiedMatching DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism oboInOwl:hasDbXref ORDO:79118 semapv:UnspecifiedMatching @@ -3587,7 +3603,7 @@ DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref GARD:2198 semapv:Uns DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref MESH:C535737 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref OMIM:602473 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref ORDO:51188 semapv:UnspecifiedMatching -DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C1865349 semapv:UnspecifiedMatching +DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS:C1865349 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy skos:exactMatch OMIM:602473 semapv:UnspecifiedMatching DOID:0060641 endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060641 endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref OMIM:612651 semapv:UnspecifiedMatching @@ -3603,12 +3619,12 @@ DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 sema DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref NCI:C4828 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref ORDO:171 semapv:UnspecifiedMatching -DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref UMLS_CUI:C0566602 semapv:UnspecifiedMatching +DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0566602 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis skos:exactMatch OMIM:613806 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref MESH:C536123 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref OMIM:600092 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref ORDO:1422 semapv:UnspecifiedMatching -DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref UMLS_CUI:C1838654 semapv:UnspecifiedMatching +DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref UMLS:C1838654 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch OMIM:600092 semapv:UnspecifiedMatching DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ICD10CM:M86.3 semapv:UnspecifiedMatching DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref MESH:C535456 semapv:UnspecifiedMatching @@ -3632,7 +3648,7 @@ DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref GARD:1855 semapv:Unsp DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref ORDO:2195 semapv:UnspecifiedMatching -DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS_CUI:C1857253 semapv:UnspecifiedMatching +DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS:C1857253 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria skos:exactMatch OMIM:222730 semapv:UnspecifiedMatching DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching @@ -3649,7 +3665,7 @@ DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref MESH:D DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref NCI:C84805 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref OMIMPS:242300 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref ORDO:281097 semapv:UnspecifiedMatching -DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref UMLS_CUI:C0079154 semapv:UnspecifiedMatching +DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref UMLS:C0079154 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis skos:exactMatch OMIMPS:242300 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref GARD:3170 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching @@ -3724,7 +3740,7 @@ DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref ICD10CM DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref MESH:D002538 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref OMIM:108010 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref ORDO:46724 semapv:UnspecifiedMatching -DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref UMLS_CUI:C0007772 semapv:UnspecifiedMatching +DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref UMLS:C0007772 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain skos:exactMatch OMIM:108010 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref ICD10CM:L65.8 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref MESH:C565924 semapv:UnspecifiedMatching @@ -3794,7 +3810,7 @@ DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref MESH:C537369 semapv:UnspecifiedM DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref NCI:C84904 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref ORDO:53271 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref UMLS_CUI:C1864436 semapv:UnspecifiedMatching +DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref UMLS:C1864436 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome skos:exactMatch OMIM:602849 semapv:UnspecifiedMatching DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref OMIMPS:308240 semapv:UnspecifiedMatching DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:538963 semapv:UnspecifiedMatching @@ -3916,7 +3932,7 @@ DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref MESH:C536648 semapv:Unspecified DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref NCI:C121745 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref ORDO:705 semapv:UnspecifiedMatching -DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref UMLS_CUI:C0271829 semapv:UnspecifiedMatching +DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref UMLS:C0271829 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome skos:exactMatch OMIM:274600 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref GARD:1912 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching @@ -3987,14 +4003,14 @@ DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref GARD:1516 semapv:Unspecif DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref MESH:C536920 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref OMIMPS:275210 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref ORDO:1662 semapv:UnspecifiedMatching -DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref UMLS_CUI:C0406585 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref UMLS:C0406585 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch GARD:1516 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch MESH:C536920 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch OMIM:PS275210 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch OMIMPS:275210 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch ORDO:1662 semapv:UnspecifiedMatching -DOID:0060762 restrictive dermopathy skos:exactMatch SNOMEDCT_US_2023_02_28:400128006 semapv:UnspecifiedMatching -DOID:0060762 restrictive dermopathy skos:exactMatch UMLS_CUI:C0406585 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch SNOMEDCT_US_2020_03_01:400128006 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref ICD10CM:Q14.1 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref OMIM:312700 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref ORDO:792 semapv:UnspecifiedMatching @@ -4069,24 +4085,24 @@ DOID:0060781 congenital secretory sodium diarrhea 3 skos:exactMatch OMIM:270420 DOID:0060782 EEC syndrome oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching DOID:0060782 EEC syndrome oboInOwl:hasDbXref NCI:C148261 semapv:UnspecifiedMatching DOID:0060782 EEC syndrome oboInOwl:hasDbXref ORDO:1896 semapv:UnspecifiedMatching -DOID:0060782 EEC syndrome oboInOwl:hasDbXref UMLS_CUI:C0406704 semapv:UnspecifiedMatching +DOID:0060782 EEC syndrome oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching DOID:0060782 EEC syndrome skos:exactMatch MESH:C536189 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref NCI:C148261 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref OMIM:604292 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref ORDO:1896 semapv:UnspecifiedMatching -DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref UMLS_CUI:C0406704 semapv:UnspecifiedMatching +DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch OMIM:604292 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref NCI:C148261 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref OMIM:129900 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref ORDO:1896 semapv:UnspecifiedMatching -DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0406704 semapv:UnspecifiedMatching +DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch OMIM:129900 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref GARD:10587 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref OMIM:169500 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref ORDO:99027 semapv:UnspecifiedMatching -DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C3164344 semapv:UnspecifiedMatching +DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C3164344 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch OMIM:169500 semapv:UnspecifiedMatching DOID:0060786 hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIMPS:312080 semapv:UnspecifiedMatching DOID:0060786 hypomyelinating leukodystrophy skos:exactMatch OMIMPS:312080 semapv:UnspecifiedMatching @@ -4138,19 +4154,19 @@ DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDb DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref NCI:C126747 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref OMIM:300260 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref ORDO:85281 semapv:UnspecifiedMatching -DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref UMLS_CUI:C1846058 semapv:UnspecifiedMatching +DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref UMLS:C1846058 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type skos:exactMatch OMIM:300260 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref MESH:C535773 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref NCI:C124839 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref ORDO:1568 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref ORDO:85335 semapv:UnspecifiedMatching -DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref UMLS_CUI:C0796254 semapv:UnspecifiedMatching +DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref UMLS:C0796254 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 skos:exactMatch OMIM:304340 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref MESH:C537451 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref OMIM:300148 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref ORDO:85282 semapv:UnspecifiedMatching -DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref UMLS_CUI:C1846278 semapv:UnspecifiedMatching +DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref UMLS:C1846278 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome skos:exactMatch OMIM:300148 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref GARD:5615 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching @@ -4179,7 +4195,7 @@ DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref GAR DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref MESH:C537449 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref OMIM:300218 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ORDO:85274 semapv:UnspecifiedMatching -DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS_CUI:C1846170 semapv:UnspecifiedMatching +DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS:C1846170 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 skos:exactMatch OMIM:300218 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref OMIM:300534 semapv:UnspecifiedMatching @@ -4197,7 +4213,7 @@ DOID:0060811 syndromic X-linked intellectual disability Turner type skos:exactMa DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref MESH:C537333 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref OMIM:300263 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref ORDO:85287 semapv:UnspecifiedMatching -DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref UMLS_CUI:C1846055 semapv:UnspecifiedMatching +DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref UMLS:C1846055 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type skos:exactMatch OMIM:300263 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref OMIM:300709 semapv:UnspecifiedMatching @@ -4209,7 +4225,7 @@ DOID:0060814 Wilson-Turner syndrome oboInOwl:hasDbXref ORDO:3459 semapv:Unspecif DOID:0060814 Wilson-Turner syndrome skos:exactMatch OMIM:309585 semapv:UnspecifiedMatching DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref OMIM:314580 semapv:UnspecifiedMatching DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref ORDO:85283 semapv:UnspecifiedMatching -DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref UMLS_CUI:C1839735 semapv:UnspecifiedMatching +DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref UMLS:C1839735 semapv:UnspecifiedMatching DOID:0060815 Miles-Carpenter syndrome skos:exactMatch OMIM:314580 semapv:UnspecifiedMatching DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref OMIM:300472 semapv:UnspecifiedMatching @@ -4221,7 +4237,7 @@ DOID:0060817 syndromic X-linked intellectual disability 34 skos:exactMatch OMIM: DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref MESH:C535556 semapv:UnspecifiedMatching DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref OMIM:300262 semapv:UnspecifiedMatching DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref ORDO:85273 semapv:UnspecifiedMatching -DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref UMLS_CUI:C1846056 semapv:UnspecifiedMatching +DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref UMLS:C1846056 semapv:UnspecifiedMatching DOID:0060818 syndromic X-linked intellectual disability Abidi type skos:exactMatch OMIM:300262 semapv:UnspecifiedMatching DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type oboInOwl:hasDbXref OMIM:300861 semapv:UnspecifiedMatching DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch OMIM:300861 semapv:UnspecifiedMatching @@ -4233,7 +4249,7 @@ DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ME DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref OMIM:300676 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ORDO:323 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ORDO:776 semapv:UnspecifiedMatching -DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref UMLS_CUI:C0796022 semapv:UnspecifiedMatching +DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref UMLS:C0796022 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 skos:exactMatch OMIM:300676 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref GARD:13244 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching @@ -4252,7 +4268,7 @@ DOID:0060825 Christianson syndrome oboInOwl:hasDbXref GARD:10572 semapv:Unspecif DOID:0060825 Christianson syndrome oboInOwl:hasDbXref MESH:C537450 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref OMIM:300243 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref ORDO:85278 semapv:UnspecifiedMatching -DOID:0060825 Christianson syndrome oboInOwl:hasDbXref UMLS_CUI:C1846130 semapv:UnspecifiedMatching +DOID:0060825 Christianson syndrome oboInOwl:hasDbXref UMLS:C1846130 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome skos:broadMatch MESH:C567484 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome skos:exactMatch MESH:C537450 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome skos:exactMatch OMIM:300243 semapv:UnspecifiedMatching @@ -4280,20 +4296,20 @@ DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref GARD:2566 semapv:Unspe DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref ORDO:79476 semapv:UnspecifiedMatching -DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C1859194 semapv:UnspecifiedMatching +DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS:C1859194 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 skos:exactMatch OMIM:214450 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref GARD:4483 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref MESH:C537302 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref NCI:C111814 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref ORDO:79477 semapv:UnspecifiedMatching -DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref UMLS_CUI:C1868679 semapv:UnspecifiedMatching +DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref UMLS:C1868679 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 skos:exactMatch OMIM:607624 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref GARD:9715 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref MESH:C537303 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref ORDO:79478 semapv:UnspecifiedMatching -DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS_CUI:C1836573 semapv:UnspecifiedMatching +DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS:C1836573 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 skos:exactMatch OMIM:609227 semapv:UnspecifiedMatching DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching @@ -4330,21 +4346,21 @@ DOID:0060842 isolated microphthalmia 3 skos:exactMatch OMIM:611038 semapv:Unspec DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MESH:C536965 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref OMIM:162500 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ORDO:640 semapv:UnspecifiedMatching -DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS_CUI:C0393814 semapv:UnspecifiedMatching +DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS:C0393814 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies skos:exactMatch OMIM:162500 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref GARD:7224 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref NCI:C118634 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref ORDO:649 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease oboInOwl:hasDbXref UMLS_CUI:C0266526 semapv:UnspecifiedMatching +DOID:0060844 Norrie disease oboInOwl:hasDbXref UMLS:C0266526 semapv:UnspecifiedMatching DOID:0060844 Norrie disease skos:exactMatch OMIM:310600 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref GARD:3224 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref MESH:C537119 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref NCI:C126560 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref OMIM:127300 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref ORDO:240 semapv:UnspecifiedMatching -DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS_CUI:C0265309 semapv:UnspecifiedMatching +DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS:C0265309 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis skos:exactMatch OMIM:127300 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref GARD:10806 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching @@ -4355,7 +4371,7 @@ DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref NCI:C130998 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ORDO:2788 semapv:UnspecifiedMatching -DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS_CUI:C0432252 semapv:UnspecifiedMatching +DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS:C0432252 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome skos:exactMatch OMIM:259770 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref GARD:705 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref ICD10CM:Q45.1 semapv:UnspecifiedMatching @@ -4363,7 +4379,7 @@ DOID:0060850 annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:Unspecified DOID:0060850 annular pancreas oboInOwl:hasDbXref NCI:C98813 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref ORDO:675 semapv:UnspecifiedMatching -DOID:0060850 annular pancreas oboInOwl:hasDbXref UMLS_CUI:C0149955 semapv:UnspecifiedMatching +DOID:0060850 annular pancreas oboInOwl:hasDbXref UMLS:C0149955 semapv:UnspecifiedMatching DOID:0060850 annular pancreas skos:exactMatch OMIM:167750 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref GARD:7355 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref ICD10CM:L10.0 semapv:UnspecifiedMatching @@ -4371,21 +4387,21 @@ DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref MESH:D010392 semapv:Unspecifi DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref NCI:C34910 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref OMIM:169610 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref ORDO:704 semapv:UnspecifiedMatching -DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref UMLS_CUI:C0030809 semapv:UnspecifiedMatching +DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref UMLS:C0030809 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris skos:exactMatch OMIM:169610 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref GARD:9420 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref MESH:C537185 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref NCI:C128145 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref OMIM:609049 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref ORDO:2670 semapv:UnspecifiedMatching -DOID:0060852 Pierson syndrome oboInOwl:hasDbXref UMLS_CUI:C1836876 semapv:UnspecifiedMatching +DOID:0060852 Pierson syndrome oboInOwl:hasDbXref UMLS:C1836876 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome skos:exactMatch OMIM:609049 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref GARD:10145 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref MESH:C538355 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref NCI:C124846 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref OMIM:610883 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref ORDO:1713 semapv:UnspecifiedMatching -DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref UMLS_CUI:C2931246 semapv:UnspecifiedMatching +DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref UMLS:C2931246 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome skos:exactMatch OMIM:610883 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref GARD:4552 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching @@ -4393,13 +4409,13 @@ DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXr DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:171876 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:756 semapv:UnspecifiedMatching -DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS_CUI:C0268436 semapv:UnspecifiedMatching +DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C0268436 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch OMIM:264350 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref GARD:9145 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:756 semapv:UnspecifiedMatching -DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS_CUI:C1449843 semapv:UnspecifiedMatching +DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449843 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch OMIM:177735 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref ICD10CM:Q20.6 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching @@ -4410,7 +4426,7 @@ DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref MESH:D025962 semapv:Unspeci DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref NCI:C85063 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref ORDO:3157 semapv:UnspecifiedMatching -DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0338503 semapv:UnspecifiedMatching +DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref UMLS:C0338503 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia skos:exactMatch OMIM:182230 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10CM:E72.0 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref MESH:C564710 semapv:UnspecifiedMatching @@ -4464,7 +4480,7 @@ DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ICD9CM:253.3 DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref MESH:D004393 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref NCI:C34555 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ORDO:631 semapv:UnspecifiedMatching -DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref UMLS_CUI:C0013338 semapv:UnspecifiedMatching +DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C0013338 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref OMIM:148210 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref ORDO:477 semapv:UnspecifiedMatching @@ -4492,13 +4508,13 @@ DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref ME DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref NCI:C84777 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:146800 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref ORDO:455 semapv:UnspecifiedMatching -DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS_CUI:C0432306 semapv:UnspecifiedMatching +DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C0432306 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma skos:exactMatch OMIM:146800 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref MESH:C537907 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref NCI:C130983 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref OMIM:146255 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref ORDO:2237 semapv:UnspecifiedMatching -DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref UMLS_CUI:C1840333 semapv:UnspecifiedMatching +DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref UMLS:C1840333 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch OMIM:146255 semapv:UnspecifiedMatching DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref OMIMPS:602014 semapv:UnspecifiedMatching @@ -4511,7 +4527,7 @@ DOID:0060880 renal hypomagnesemia 3 skos:exactMatch OMIM:248250 semapv:Unspecifi DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref MESH:C536148 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref OMIM:248190 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref ORDO:2196 semapv:UnspecifiedMatching -DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref UMLS_CUI:C2931121 semapv:UnspecifiedMatching +DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref UMLS:C2931121 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement skos:exactMatch OMIM:248190 semapv:UnspecifiedMatching DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref OMIM:611718 semapv:UnspecifiedMatching @@ -4534,7 +4550,7 @@ DOID:0060885 renal hypomagnesemia 2 skos:exactMatch OMIM:154020 semapv:Unspecifi DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref MESH:C536053 semapv:UnspecifiedMatching DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref ORDO:2780 semapv:UnspecifiedMatching -DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref UMLS_CUI:C0432268 semapv:UnspecifiedMatching +DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref UMLS:C0432268 semapv:UnspecifiedMatching DOID:0060886 osteopathia striata with cranial sclerosis skos:exactMatch OMIM:300373 semapv:UnspecifiedMatching DOID:0060887 ossification of the posterior longitudinal ligament of spine oboInOwl:hasDbXref GARD:9699 semapv:UnspecifiedMatching DOID:0060887 ossification of the posterior longitudinal ligament of spine oboInOwl:hasDbXref OMIM:602475 semapv:UnspecifiedMatching @@ -4583,13 +4599,13 @@ DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref NCI:C80307 semapv:Uns DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref OMIM:153600 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref OMIM:610430 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref ORDO:33226 semapv:UnspecifiedMatching -DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C0024419 semapv:UnspecifiedMatching -DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C2936755 semapv:UnspecifiedMatching +DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref UMLS:C0024419 semapv:UnspecifiedMatching +DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref UMLS:C2936755 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma skos:exactMatch MESH:D008258 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref MESH:C537848 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref OMIM:257320 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref ORDO:89844 semapv:UnspecifiedMatching -DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref UMLS_CUI:C0796089 semapv:UnspecifiedMatching +DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref UMLS:C0796089 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome skos:exactMatch OMIM:257320 semapv:UnspecifiedMatching DOID:0060903 thrombosis oboInOwl:hasDbXref MESH:D013927 semapv:UnspecifiedMatching DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref GARD:11003 semapv:UnspecifiedMatching @@ -4597,6 +4613,43 @@ DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10CM:N11. DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref OMIM:614817 semapv:UnspecifiedMatching DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref ORDO:401996 semapv:UnspecifiedMatching DOID:0060911 karyomegalic interstitial nephritis skos:exactMatch OMIM:614817 semapv:UnspecifiedMatching +DOID:0060912 craniosynostosis 7 oboInOwl:hasDbXref OMIM:617439 semapv:UnspecifiedMatching +DOID:0060912 craniosynostosis 7 skos:exactMatch OMIM:617439 semapv:UnspecifiedMatching +DOID:0060913 proteosome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIMPS:256040 semapv:UnspecifiedMatching +DOID:0060913 proteosome-associated autoinflammatory syndrome oboInOwl:hasDbXref ORDO:324977 semapv:UnspecifiedMatching +DOID:0060913 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIMPS:256040 semapv:UnspecifiedMatching +DOID:0060914 proteosome-associated autoinflammatory syndrome 2 oboInOwl:hasDbXref OMIM:618048 semapv:UnspecifiedMatching +DOID:0060914 proteosome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 semapv:UnspecifiedMatching +DOID:0060915 proteosome-associated autoinflammatory syndrome 4 oboInOwl:hasDbXref OMIM:619183 semapv:UnspecifiedMatching +DOID:0060915 proteosome-associated autoinflammatory syndrome 4 skos:exactMatch OMIM:619183 semapv:UnspecifiedMatching +DOID:0060916 proteasome-associated autoinflammatory syndrome 3 oboInOwl:hasDbXref OMIM:617591 semapv:UnspecifiedMatching +DOID:0060916 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch OMIM:617591 semapv:UnspecifiedMatching +DOID:0060917 facioscapulohumeral muscular dystrophy 3 oboInOwl:hasDbXref OMIM:619477 semapv:UnspecifiedMatching +DOID:0060917 facioscapulohumeral muscular dystrophy 3 skos:exactMatch OMIM:619477 semapv:UnspecifiedMatching +DOID:0060918 facioscapulohumeral muscular dystrophy 4 oboInOwl:hasDbXref OMIM:619478 semapv:UnspecifiedMatching +DOID:0060918 facioscapulohumeral muscular dystrophy 4 skos:exactMatch OMIM:619478 semapv:UnspecifiedMatching +DOID:0060919 proteosome-associated autoinflammatory syndrome 5 oboInOwl:hasDbXref OMIM:619175 semapv:UnspecifiedMatching +DOID:0060919 proteosome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 semapv:UnspecifiedMatching +DOID:0060920 otosclerosis 1 oboInOwl:hasDbXref OMIM:166800 semapv:UnspecifiedMatching +DOID:0060920 otosclerosis 1 skos:exactMatch OMIM:166800 semapv:UnspecifiedMatching +DOID:0060921 otosclerosis 2 oboInOwl:hasDbXref OMIM:605727 semapv:UnspecifiedMatching +DOID:0060921 otosclerosis 2 skos:exactMatch OMIM:605727 semapv:UnspecifiedMatching +DOID:0060922 otosclerosis 3 oboInOwl:hasDbXref OMIM:608244 semapv:UnspecifiedMatching +DOID:0060922 otosclerosis 3 skos:exactMatch OMIM:608244 semapv:UnspecifiedMatching +DOID:0060923 otosclerosis 4 oboInOwl:hasDbXref OMIM:611571 semapv:UnspecifiedMatching +DOID:0060923 otosclerosis 4 skos:exactMatch OMIM:611571 semapv:UnspecifiedMatching +DOID:0060924 otosclerosis 5 oboInOwl:hasDbXref OMIM:608787 semapv:UnspecifiedMatching +DOID:0060924 otosclerosis 5 skos:exactMatch OMIM:608787 semapv:UnspecifiedMatching +DOID:0060925 otosclerosis 7 oboInOwl:hasDbXref OMIM:611572 semapv:UnspecifiedMatching +DOID:0060925 otosclerosis 7 skos:exactMatch OMIM:611572 semapv:UnspecifiedMatching +DOID:0060926 otosclerosis 8 oboInOwl:hasDbXref OMIM:612096 semapv:UnspecifiedMatching +DOID:0060926 otosclerosis 8 skos:exactMatch OMIM:612096 semapv:UnspecifiedMatching +DOID:0060927 otosclerosis 10 oboInOwl:hasDbXref OMIM:615589 semapv:UnspecifiedMatching +DOID:0060927 otosclerosis 10 skos:exactMatch OMIM:615589 semapv:UnspecifiedMatching +DOID:0060928 otosclerosis 11 oboInOwl:hasDbXref OMIM:620576 semapv:UnspecifiedMatching +DOID:0060928 otosclerosis 11 skos:exactMatch OMIM:620576 semapv:UnspecifiedMatching +DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 oboInOwl:hasDbXref OMIM:301107 semapv:UnspecifiedMatching +DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 skos:exactMatch OMIM:301107 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 semapv:UnspecifiedMatching DOID:0070002 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching @@ -4671,7 +4724,7 @@ DOID:0070038 autosomal dominant intellectual developmental disorder 8 oboInOwl:h DOID:0070038 autosomal dominant intellectual developmental disorder 8 skos:exactMatch OMIM:614254 semapv:UnspecifiedMatching DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref NCI:C133742 semapv:UnspecifiedMatching DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref OMIM:614255 semapv:UnspecifiedMatching -DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref UMLS_CUI:C3280283 semapv:UnspecifiedMatching +DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref UMLS:C3280283 semapv:UnspecifiedMatching DOID:0070039 NESCAV syndrome skos:exactMatch OMIM:614255 semapv:UnspecifiedMatching DOID:0070040 autosomal dominant intellectual developmental disorder 10 oboInOwl:hasDbXref OMIM:614256 semapv:UnspecifiedMatching DOID:0070040 autosomal dominant intellectual developmental disorder 10 skos:exactMatch OMIM:614256 semapv:UnspecifiedMatching @@ -4834,7 +4887,7 @@ DOID:0070120 Meckel syndrome 6 skos:exactMatch OMIM:612284 semapv:UnspecifiedMat DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref MESH:C537756 semapv:UnspecifiedMatching DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref ORDO:3032 semapv:UnspecifiedMatching -DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref UMLS_CUI:C2673885 semapv:UnspecifiedMatching +DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref UMLS:C2673885 semapv:UnspecifiedMatching DOID:0070121 Meckel syndrome 7 skos:exactMatch OMIM:267010 semapv:UnspecifiedMatching DOID:0070122 Meckel syndrome 8 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching DOID:0070122 Meckel syndrome 8 oboInOwl:hasDbXref OMIM:613885 semapv:UnspecifiedMatching @@ -4894,7 +4947,7 @@ DOID:0070138 autosomal recessive cutis laxa type IIIB skos:exactMatch OMIM:61443 DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref MESH:C567716 semapv:UnspecifiedMatching DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref OMIM:613177 semapv:UnspecifiedMatching DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref ORDO:221145 semapv:UnspecifiedMatching -DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref UMLS_CUI:C2750804 semapv:UnspecifiedMatching +DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref UMLS:C2750804 semapv:UnspecifiedMatching DOID:0070139 autosomal recessive cutis laxa type IC skos:exactMatch OMIM:613177 semapv:UnspecifiedMatching DOID:0070140 autosomal recessive cutis laxa type IIC oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:0070140 autosomal recessive cutis laxa type IIC oboInOwl:hasDbXref OMIM:617402 semapv:UnspecifiedMatching @@ -4906,34 +4959,34 @@ DOID:0070142 autosomal dominant cutis laxa oboInOwl:hasDbXref ORDO:90348 semapv: DOID:0070143 autosomal recessive cutis laxa type III oboInOwl:hasDbXref GARD:49 semapv:UnspecifiedMatching DOID:0070143 autosomal recessive cutis laxa type III oboInOwl:hasDbXref MESH:C535990 semapv:UnspecifiedMatching DOID:0070143 autosomal recessive cutis laxa type III oboInOwl:hasDbXref ORDO:2962 semapv:UnspecifiedMatching -DOID:0070143 autosomal recessive cutis laxa type III oboInOwl:hasDbXref UMLS_CUI:C0268354 semapv:UnspecifiedMatching +DOID:0070143 autosomal recessive cutis laxa type III oboInOwl:hasDbXref UMLS:C0268354 semapv:UnspecifiedMatching DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref GARD:8480 semapv:UnspecifiedMatching DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref MESH:C562628 semapv:UnspecifiedMatching DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref ORDO:90439 semapv:UnspecifiedMatching -DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref UMLS_CUI:C0268351 semapv:UnspecifiedMatching -DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref UMLS_CUI:C0432336 semapv:UnspecifiedMatching +DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref UMLS:C0268351 semapv:UnspecifiedMatching +DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref UMLS:C0432336 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref GARD:12328 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D000699 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref NCI:C156360 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ORDO:608654 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS_CUI:C0002768 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS_CUI:C0020075 semapv:UnspecifiedMatching +DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0002768 semapv:UnspecifiedMatching +DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0020075 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch OMIM:608654 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref GARD:3006 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref NCI:C118633 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref ORDO:642 semapv:UnspecifiedMatching -DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref UMLS_CUI:C0020074 semapv:UnspecifiedMatching +DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref UMLS:C0020074 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 skos:exactMatch OMIM:256800 semapv:UnspecifiedMatching DOID:0070147 hereditary sensory neuropathy type 2C oboInOwl:hasDbXref OMIM:614213 semapv:UnspecifiedMatching DOID:0070147 hereditary sensory neuropathy type 2C skos:exactMatch OMIM:614213 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref MESH:C564296 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref OMIM:608088 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref ORDO:139564 semapv:UnspecifiedMatching -DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref UMLS_CUI:C1842586 semapv:UnspecifiedMatching +DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref UMLS:C1842586 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B skos:exactMatch OMIM:608088 semapv:UnspecifiedMatching DOID:0070149 hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref GARD:12723 semapv:UnspecifiedMatching DOID:0070149 hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10CM:G60.8 semapv:UnspecifiedMatching @@ -4972,13 +5025,13 @@ DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXr DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ORDO:970 semapv:UnspecifiedMatching -DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS_CUI:C0020072 semapv:UnspecifiedMatching -DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS_CUI:C0270914 semapv:UnspecifiedMatching +DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0020072 semapv:UnspecifiedMatching +DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0270914 semapv:UnspecifiedMatching DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref GARD:6635 semapv:UnspecifiedMatching DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref NCI:C170433 semapv:UnspecifiedMatching DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ORDO:36386 semapv:UnspecifiedMatching -DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS_CUI:C0020071 semapv:UnspecifiedMatching +DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS:C0020071 semapv:UnspecifiedMatching DOID:0070163 spermatogenic failure 21 oboInOwl:hasDbXref OMIM:617644 semapv:UnspecifiedMatching DOID:0070163 spermatogenic failure 21 skos:exactMatch OMIM:617644 semapv:UnspecifiedMatching DOID:0070164 spermatogenic failure 2 oboInOwl:hasDbXref OMIM:108420 semapv:UnspecifiedMatching @@ -5072,7 +5125,7 @@ DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref MESH:D0524 DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref NCI:C165527 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref ORDO:2348 semapv:UnspecifiedMatching -DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref UMLS_CUI:C1720860 semapv:UnspecifiedMatching +DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 skos:exactMatch OMIM:151660 semapv:UnspecifiedMatching DOID:0070203 familial partial lipodystrophy type 5 oboInOwl:hasDbXref OMIM:615238 semapv:UnspecifiedMatching DOID:0070203 familial partial lipodystrophy type 5 oboInOwl:hasDbXref ORDO:435651 semapv:UnspecifiedMatching @@ -5081,7 +5134,7 @@ DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref GARD:12600 DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref ORDO:79083 semapv:UnspecifiedMatching -DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref UMLS_CUI:C1720861 semapv:UnspecifiedMatching +DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 skos:exactMatch OMIM:604367 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref GARD:12601 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref OMIM:613877 semapv:UnspecifiedMatching @@ -5094,7 +5147,7 @@ DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref GARD:12598 DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref OMIM:608600 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref ORDO:79084 semapv:UnspecifiedMatching -DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref UMLS_CUI:C1720859 semapv:UnspecifiedMatching +DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 skos:exactMatch OMIM:608600 semapv:UnspecifiedMatching DOID:0070208 hereditary lymphedema IC oboInOwl:hasDbXref OMIM:613480 semapv:UnspecifiedMatching DOID:0070208 hereditary lymphedema IC skos:exactMatch OMIM:613480 semapv:UnspecifiedMatching @@ -5109,21 +5162,21 @@ DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref ICD10CM:Q82.0 semapv:Uns DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref MESH:D008209 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref NCI:C48829 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref ORDO:79452 semapv:UnspecifiedMatching -DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref UMLS_CUI:C1704423 semapv:UnspecifiedMatching +DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref UMLS:C1704423 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref GARD:3324 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ICD10CM:I89.0 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref MESH:C562467 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ORDO:90186 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS_CUI:C0238261 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS_CUI:C1704424 semapv:UnspecifiedMatching +DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS:C0238261 semapv:UnspecifiedMatching +DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS:C1704424 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II skos:exactMatch OMIM:153200 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref GARD:9932 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref MESH:C538376 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref NCI:C131839 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref OMIM:610021 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref ORDO:165991 semapv:UnspecifiedMatching -DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref UMLS_CUI:C1864902 semapv:UnspecifiedMatching +DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref UMLS:C1864902 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 skos:exactMatch OMIM:610021 semapv:UnspecifiedMatching DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref GARD:2819 semapv:UnspecifiedMatching DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref OMIM:609975 semapv:UnspecifiedMatching @@ -5147,19 +5200,19 @@ DOID:0070220 familial hyperinsulinemic hypoglycemia 5 skos:exactMatch OMIM:60996 DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref NCI:C84453 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIMPS:211600 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ORDO:172 semapv:UnspecifiedMatching -DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0268312 semapv:UnspecifiedMatching +DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0268312 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis skos:exactMatch OMIMPS:211600 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref GARD:1288 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref ORDO:79304 semapv:UnspecifiedMatching -DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref UMLS_CUI:C3489789 semapv:UnspecifiedMatching +DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref UMLS:C3489789 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 skos:exactMatch OMIM:601847 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref GARD:1289 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref ORDO:79305 semapv:UnspecifiedMatching -DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref UMLS_CUI:C1865643 semapv:UnspecifiedMatching +DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref UMLS:C1865643 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 skos:exactMatch OMIM:602347 semapv:UnspecifiedMatching DOID:0070224 progressive familial intrahepatic cholestasis 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching DOID:0070224 progressive familial intrahepatic cholestasis 4 oboInOwl:hasDbXref ORDO:480483 semapv:UnspecifiedMatching @@ -5245,50 +5298,50 @@ DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref GA DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref MESH:C535752 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref OMIM:212066 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref ORDO:79329 semapv:UnspecifiedMatching -DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref UMLS_CUI:C2931008 semapv:UnspecifiedMatching +DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref UMLS:C2931008 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa skos:exactMatch OMIM:212066 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref GARD:10767 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref MESH:C565264 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref OMIM:606056 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref ORDO:79330 semapv:UnspecifiedMatching -DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref UMLS_CUI:C1853736 semapv:UnspecifiedMatching +DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref UMLS:C1853736 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb skos:exactMatch OMIM:606056 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref GARD:4634 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref MESH:C535755 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref NCI:C4690 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref OMIM:266265 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref ORDO:99843 semapv:UnspecifiedMatching -DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref UMLS_CUI:C0398739 semapv:UnspecifiedMatching +DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref UMLS:C0398739 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc skos:exactMatch OMIM:266265 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref GARD:9841 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref MESH:C535753 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref OMIM:607091 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref ORDO:79332 semapv:UnspecifiedMatching -DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref UMLS_CUI:C2931009 semapv:UnspecifiedMatching +DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref UMLS:C2931009 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId skos:exactMatch OMIM:607091 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref GARD:9842 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref MESH:C535754 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref OMIM:608779 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref ORDO:79333 semapv:UnspecifiedMatching -DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref UMLS_CUI:C2931010 semapv:UnspecifiedMatching +DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref UMLS:C2931010 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe skos:exactMatch OMIM:608779 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref GARD:12409 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref MESH:C567040 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref OMIM:603585 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref ORDO:238459 semapv:UnspecifiedMatching -DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref UMLS_CUI:C1970344 semapv:UnspecifiedMatching +DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref UMLS:C1970344 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf skos:exactMatch OMIM:603585 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref GARD:10226 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref MESH:C535756 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref OMIM:611209 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref ORDO:263508 semapv:UnspecifiedMatching -DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref UMLS_CUI:C2931011 semapv:UnspecifiedMatching +DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref UMLS:C2931011 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg skos:exactMatch OMIM:611209 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref GARD:12411 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref MESH:C566987 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref OMIM:611182 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref ORDO:95428 semapv:UnspecifiedMatching -DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref UMLS_CUI:C1970021 semapv:UnspecifiedMatching +DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref UMLS:C1970021 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh skos:exactMatch OMIM:611182 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref GARD:12348 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref OMIM:613612 semapv:UnspecifiedMatching @@ -5384,13 +5437,13 @@ DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref GARD:9794 semapv DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref MESH:C535505 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref OMIM:607078 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref ORDO:93311 semapv:UnspecifiedMatching -DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref UMLS_CUI:C1846843 semapv:UnspecifiedMatching +DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref UMLS:C1846843 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 skos:exactMatch OMIM:607078 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref GARD:9793 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref MESH:C535504 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref ORDO:93307 semapv:UnspecifiedMatching -DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref UMLS_CUI:C1847593 semapv:UnspecifiedMatching +DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref UMLS:C1847593 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 skos:exactMatch OMIM:226900 semapv:UnspecifiedMatching DOID:0070301 multiple epiphyseal dysplasia 6 oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching DOID:0070301 multiple epiphyseal dysplasia 6 skos:exactMatch OMIM:614135 semapv:UnspecifiedMatching @@ -5400,7 +5453,7 @@ DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref GARD:2180 semapv DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref MESH:C535501 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref OMIM:132400 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref ORDO:93308 semapv:UnspecifiedMatching -DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C1838280 semapv:UnspecifiedMatching +DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref UMLS:C1838280 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 skos:exactMatch OMIM:132400 semapv:UnspecifiedMatching DOID:0070304 multiple epiphyseal dysplasia 3 oboInOwl:hasDbXref OMIM:600969 semapv:UnspecifiedMatching DOID:0070304 multiple epiphyseal dysplasia 3 skos:exactMatch OMIM:600969 semapv:UnspecifiedMatching @@ -5409,7 +5462,7 @@ DOID:0070306 post-cardiac arrest syndrome oboInOwl:hasDbXref MESH:D000080942 sem DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref MESH:C564332 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref OMIM:607812 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref ORDO:50814 semapv:UnspecifiedMatching -DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS_CUI:C1843042 semapv:UnspecifiedMatching +DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS:C1843042 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia skos:exactMatch OMIM:607812 semapv:UnspecifiedMatching DOID:0070308 rippling muscle disease 1 oboInOwl:hasDbXref MESH:C535686 semapv:UnspecifiedMatching DOID:0070308 rippling muscle disease 1 oboInOwl:hasDbXref OMIM:600332 semapv:UnspecifiedMatching @@ -5417,11 +5470,11 @@ DOID:0070308 rippling muscle disease 1 skos:exactMatch OMIM:600332 semapv:Unspec DOID:0070309 absence epilepsy oboInOwl:hasDbXref MESH:D004832 semapv:UnspecifiedMatching DOID:0070313 thiamine deficiency disease oboInOwl:hasDbXref NCI:C34418 semapv:UnspecifiedMatching DOID:0070314 obstructive nephropathy oboInOwl:hasDbXref NCI:C120902 semapv:UnspecifiedMatching -DOID:0070314 obstructive nephropathy oboInOwl:hasDbXref UMLS_CUI:C0149939 semapv:UnspecifiedMatching +DOID:0070314 obstructive nephropathy oboInOwl:hasDbXref UMLS:C0149939 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref GARD:2922 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10CM:Q22.6 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref NCI:C99053 semapv:UnspecifiedMatching -DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS_CUI:C0344963 semapv:UnspecifiedMatching +DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS:C0344963 semapv:UnspecifiedMatching DOID:0070316 Miura type epiphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:615923 semapv:UnspecifiedMatching DOID:0070316 Miura type epiphyseal chondrodysplasia oboInOwl:hasDbXref ORDO:329191 semapv:UnspecifiedMatching DOID:0070316 Miura type epiphyseal chondrodysplasia skos:exactMatch OMIM:615923 semapv:UnspecifiedMatching @@ -5438,17 +5491,17 @@ DOID:0070323 childhood acute myeloid leukemia oboInOwl:hasDbXref ICDO:9861/3 sem DOID:0070323 childhood acute myeloid leukemia oboInOwl:hasDbXref NCI:C9160 semapv:UnspecifiedMatching DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood oboInOwl:hasDbXref ICDO:9724/3 semapv:UnspecifiedMatching DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood oboInOwl:hasDbXref ORDO:364033 semapv:UnspecifiedMatching -DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood oboInOwl:hasDbXref UMLS_CUI:C4303422 semapv:UnspecifiedMatching +DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood oboInOwl:hasDbXref UMLS:C4303422 semapv:UnspecifiedMatching DOID:0070325 malignant childhood adrenal gland pheochromocytoma oboInOwl:hasDbXref GARD:9368 semapv:UnspecifiedMatching DOID:0070325 malignant childhood adrenal gland pheochromocytoma oboInOwl:hasDbXref NCI:C118822 semapv:UnspecifiedMatching DOID:0070326 spitzoid melanoma oboInOwl:hasDbXref NCI:C136825 semapv:UnspecifiedMatching DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref GARD:2469 semapv:UnspecifiedMatching DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref ICDO:8761/3 semapv:UnspecifiedMatching DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref NCI:C48613 semapv:UnspecifiedMatching -DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1711221 semapv:UnspecifiedMatching +DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1711221 semapv:UnspecifiedMatching DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref NCI:C7956 semapv:UnspecifiedMatching DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref ORDO:210159 semapv:UnspecifiedMatching -DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279607 semapv:UnspecifiedMatching +DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0279607 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref GARD:13643 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref OMIMPS:603041 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref ORDO:35698 semapv:UnspecifiedMatching @@ -5505,7 +5558,7 @@ DOID:0070354 cataract 48 skos:exactMatch OMIM:618415 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref ICD10CM:N32.81 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref ICD9CM:596.51 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref MESH:D053201 semapv:UnspecifiedMatching -DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref UMLS_CUI:C0878773 semapv:UnspecifiedMatching +DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref UMLS:C0878773 semapv:UnspecifiedMatching DOID:0070356 visual impairment and progressive phthisis bulbi oboInOwl:hasDbXref MESH:D005128 semapv:UnspecifiedMatching DOID:0070356 visual impairment and progressive phthisis bulbi oboInOwl:hasDbXref OMIM:618283 semapv:UnspecifiedMatching DOID:0070356 visual impairment and progressive phthisis bulbi skos:exactMatch OMIM:618283 semapv:UnspecifiedMatching @@ -5689,19 +5742,19 @@ DOID:0070430 combined oxidative phosphorylation deficiency 57 skos:exactMatch OM DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref MESH:C565495 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref OMIMPS:239300 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref ORDO:247262 semapv:UnspecifiedMatching -DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref UMLS_CUI:C1855923 semapv:UnspecifiedMatching +DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref UMLS:C1855923 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch OMIM:PS239300 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch OMIMPS:239300 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch ORDO:247262 semapv:UnspecifiedMatching -DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch UMLS_CUI:C1855923 semapv:UnspecifiedMatching +DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch UMLS:C1855923 semapv:UnspecifiedMatching DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 oboInOwl:hasDbXref OMIM:616025 semapv:UnspecifiedMatching DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 skos:exactMatch OMIM:616025 semapv:UnspecifiedMatching DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 skos:exactMatch OMIM:616025 semapv:UnspecifiedMatching DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 oboInOwl:hasDbXref OMIM:239300 semapv:UnspecifiedMatching -DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C4551502 semapv:UnspecifiedMatching +DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 oboInOwl:hasDbXref UMLS:C4551502 semapv:UnspecifiedMatching DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch OMIM:239300 semapv:UnspecifiedMatching DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch OMIM:239300 semapv:UnspecifiedMatching -DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch UMLS_CUI:C4551502 semapv:UnspecifiedMatching +DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch UMLS:C4551502 semapv:UnspecifiedMatching DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 oboInOwl:hasDbXref OMIM:614749 semapv:UnspecifiedMatching DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 skos:exactMatch OMIM:614749 semapv:UnspecifiedMatching DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 skos:exactMatch OMIM:614749 semapv:UnspecifiedMatching @@ -5722,13 +5775,13 @@ DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 se DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref NCI:C168999 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref OMIM:136550 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref ORDO:75327 semapv:UnspecifiedMatching -DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0730294 semapv:UnspecifiedMatching +DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS:C0730294 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch GARD:9179 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch MESH:C537835 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch OMIM:136550 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch OMIM:136550 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch ORDO:75327 semapv:UnspecifiedMatching -DOID:0070439 North Carolina macular dystrophy skos:exactMatch UMLS_CUI:C0730294 semapv:UnspecifiedMatching +DOID:0070439 North Carolina macular dystrophy skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching DOID:0070440 retinal macular dystrophy 3 oboInOwl:hasDbXref OMIM:608850 semapv:UnspecifiedMatching DOID:0070440 retinal macular dystrophy 3 skos:exactMatch OMIM:608850 semapv:UnspecifiedMatching DOID:0070440 retinal macular dystrophy 3 skos:exactMatch OMIM:608850 semapv:UnspecifiedMatching @@ -5771,13 +5824,13 @@ DOID:0070452 xanthinuria type I oboInOwl:hasDbXref GARD:5621 semapv:UnspecifiedM DOID:0070452 xanthinuria type I oboInOwl:hasDbXref MESH:C562584 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I oboInOwl:hasDbXref ORDO:93601 semapv:UnspecifiedMatching -DOID:0070452 xanthinuria type I oboInOwl:hasDbXref UMLS_CUI:C0268118 semapv:UnspecifiedMatching +DOID:0070452 xanthinuria type I oboInOwl:hasDbXref UMLS:C0268118 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I skos:exactMatch OMIM:278300 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref GARD:5620 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref MESH:C566358 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref OMIM:603592 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref ORDO:93602 semapv:UnspecifiedMatching -DOID:0070453 xanthinuria type II oboInOwl:hasDbXref UMLS_CUI:C1863688 semapv:UnspecifiedMatching +DOID:0070453 xanthinuria type II oboInOwl:hasDbXref UMLS:C1863688 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II skos:exactMatch OMIM:603592 semapv:UnspecifiedMatching DOID:0070454 hereditary spastic paraplegia 70 oboInOwl:hasDbXref OMIM:620323 semapv:UnspecifiedMatching DOID:0070454 hereditary spastic paraplegia 70 skos:exactMatch OMIM:620323 semapv:UnspecifiedMatching @@ -5824,20 +5877,43 @@ DOID:0070468 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch OMIM:619701 DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum oboInOwl:hasDbXref OMIM:619480 semapv:UnspecifiedMatching DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 semapv:UnspecifiedMatching DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome oboInOwl:hasDbXref OMIM:618815 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome oboInOwl:hasDbXref ORDO:656279 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome oboInOwl:hasDbXref UMLS:C5394150 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch OMIM:618815 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch OMIM:618815 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch ORDO:656279 semapv:UnspecifiedMatching +DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch UMLS:C5394150 semapv:UnspecifiedMatching DOID:0070471 early-onset epilepsy 2 oboInOwl:hasDbXref OMIM:618832 semapv:UnspecifiedMatching DOID:0070471 early-onset epilepsy 2 skos:exactMatch OMIM:618832 semapv:UnspecifiedMatching DOID:0070471 early-onset epilepsy 2 skos:exactMatch OMIM:618832 semapv:UnspecifiedMatching DOID:0070472 early-onset epilepsy 3 oboInOwl:hasDbXref OMIM:620465 semapv:UnspecifiedMatching DOID:0070472 early-onset epilepsy 3 skos:exactMatch OMIM:620465 semapv:UnspecifiedMatching DOID:0070472 early-onset epilepsy 3 skos:exactMatch OMIM:620465 semapv:UnspecifiedMatching +DOID:0070473 Zaki syndrome oboInOwl:hasDbXref OMIM:619648 semapv:UnspecifiedMatching +DOID:0070473 Zaki syndrome skos:exactMatch OMIM:619648 semapv:UnspecifiedMatching +DOID:0070473 Zaki syndrome skos:exactMatch OMIM:619648 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref GARD:13658 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref OMIM:617672 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref ORDO:500180 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref UMLS:C4540086 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref UMLS:C5567227 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch GARD:13658 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch OMIM:617672 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch OMIM:617672 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch ORDO:500180 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch SNOMEDCT_US_2020_03_01:1167373005 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch UMLS:C4540086 semapv:UnspecifiedMatching +DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch UMLS:C5567227 semapv:UnspecifiedMatching DOID:0070475 renal medullary carcinoma oboInOwl:hasDbXref GARD:13175 semapv:UnspecifiedMatching DOID:0070475 renal medullary carcinoma oboInOwl:hasDbXref NCI:C7572 semapv:UnspecifiedMatching DOID:0070475 renal medullary carcinoma oboInOwl:hasDbXref ORDO:319319 semapv:UnspecifiedMatching -DOID:0070475 renal medullary carcinoma oboInOwl:hasDbXref UMLS_CUI:C4049328 semapv:UnspecifiedMatching +DOID:0070475 renal medullary carcinoma oboInOwl:hasDbXref UMLS:C4049328 semapv:UnspecifiedMatching DOID:0070475 renal medullary carcinoma skos:exactMatch GARD:13175 semapv:UnspecifiedMatching DOID:0070475 renal medullary carcinoma skos:exactMatch NCI:C7572 semapv:UnspecifiedMatching DOID:0070475 renal medullary carcinoma skos:exactMatch ORDO:319319 semapv:UnspecifiedMatching -DOID:0070475 renal medullary carcinoma skos:exactMatch UMLS_CUI:C4049328 semapv:UnspecifiedMatching +DOID:0070475 renal medullary carcinoma skos:exactMatch SNOMEDCT_US_2020_03_01:765095002 semapv:UnspecifiedMatching +DOID:0070475 renal medullary carcinoma skos:exactMatch UMLS:C4049328 semapv:UnspecifiedMatching DOID:0070476 diphthamide deficiency syndrome oboInOwl:hasDbXref OMIMPS:616901 semapv:UnspecifiedMatching DOID:0070476 diphthamide deficiency syndrome oboInOwl:hasDbXref ORDO:459061 semapv:UnspecifiedMatching DOID:0070476 diphthamide deficiency syndrome skos:exactMatch OMIM:PS616901 semapv:UnspecifiedMatching @@ -5854,18 +5930,18 @@ DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch OMIM:620070 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref NCI:C186703 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref OMIM:162091 semapv:UnspecifiedMatching -DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref UMLS_CUI:C5670707 semapv:UnspecifiedMatching +DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref UMLS:C5670707 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 skos:exactMatch NCI:C186703 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 skos:exactMatch OMIM:162091 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 skos:exactMatch OMIM:162091 semapv:UnspecifiedMatching -DOID:0070480 schwannomatosis 1 skos:exactMatch UMLS_CUI:C5670707 semapv:UnspecifiedMatching +DOID:0070480 schwannomatosis 1 skos:exactMatch UMLS:C5670707 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref NCI:C186704 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref OMIM:615670 semapv:UnspecifiedMatching -DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref UMLS_CUI:C5670708 semapv:UnspecifiedMatching +DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref UMLS:C5670708 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 skos:exactMatch NCI:C186704 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 skos:exactMatch OMIM:615670 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 skos:exactMatch OMIM:615670 semapv:UnspecifiedMatching -DOID:0070481 schwannomatosis 2 skos:exactMatch UMLS_CUI:C5670708 semapv:UnspecifiedMatching +DOID:0070481 schwannomatosis 2 skos:exactMatch UMLS:C5670708 semapv:UnspecifiedMatching DOID:0070482 spinal neurofibromatosis oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching DOID:0070482 spinal neurofibromatosis skos:exactMatch OMIM:162210 semapv:UnspecifiedMatching DOID:0070482 spinal neurofibromatosis skos:exactMatch OMIM:162210 semapv:UnspecifiedMatching @@ -5877,24 +5953,205 @@ DOID:0070484 Legius syndrome oboInOwl:hasDbXref MESH:C548032 semapv:UnspecifiedM DOID:0070484 Legius syndrome oboInOwl:hasDbXref NCI:C176941 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref OMIM:611431 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref ORDO:137605 semapv:UnspecifiedMatching -DOID:0070484 Legius syndrome oboInOwl:hasDbXref UMLS_CUI:C1969623 semapv:UnspecifiedMatching +DOID:0070484 Legius syndrome oboInOwl:hasDbXref UMLS:C1969623 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch GARD:10714 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch MESH:C548032 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch NCI:C176941 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch OMIM:611431 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch OMIM:611431 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch ORDO:137605 semapv:UnspecifiedMatching -DOID:0070484 Legius syndrome skos:exactMatch UMLS_CUI:C1969623 semapv:UnspecifiedMatching +DOID:0070484 Legius syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:703541007 semapv:UnspecifiedMatching +DOID:0070484 Legius syndrome skos:exactMatch UMLS:C1969623 semapv:UnspecifiedMatching +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 oboInOwl:hasDbXref OMIM:620275 semapv:UnspecifiedMatching +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 oboInOwl:hasDbXref UMLS:C5830322 semapv:UnspecifiedMatching +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 skos:exactMatch OMIM:620275 semapv:UnspecifiedMatching +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 skos:exactMatch OMIM:620275 semapv:UnspecifiedMatching +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 skos:exactMatch UMLS:C5830322 semapv:UnspecifiedMatching +DOID:0070486 Parkinson's disease 25 oboInOwl:hasDbXref OMIM:620482 semapv:UnspecifiedMatching +DOID:0070486 Parkinson's disease 25 skos:exactMatch OMIM:620482 semapv:UnspecifiedMatching +DOID:0070486 Parkinson's disease 25 skos:exactMatch OMIM:620482 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref GARD:10484 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref MESH:C567730 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref NCI:C129866 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref OMIM:613135 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref ORDO:238455 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref UMLS:C2751067 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:broadMatch OMIM:PS613135 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch GARD:10484 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch MESH:C567730 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch NCI:C129866 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch ORDO:238455 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:722763000 semapv:UnspecifiedMatching +DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch UMLS:C2751067 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref GARD:13594 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref OMIM:618049 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref UMLS:C4303546 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref UMLS:C4747991 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:broadMatch OMIM:PS613135 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch GARD:13594 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch OMIM:618049 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch OMIM:618049 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch SNOMEDCT_US_2020_03_01:717942003 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch UMLS:C4303546 semapv:UnspecifiedMatching +DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch UMLS:C4747991 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 oboInOwl:hasDbXref NCI:C176895 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 oboInOwl:hasDbXref OMIM:220110 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 oboInOwl:hasDbXref UMLS:C5435656 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch NCI:C176895 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch OMIM:220110 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch OMIM:220110 semapv:UnspecifiedMatching +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 oboInOwl:hasDbXref OMIM:619046 semapv:UnspecifiedMatching +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 oboInOwl:hasDbXref UMLS:C5436682 semapv:UnspecifiedMatching +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 skos:exactMatch OMIM:619046 semapv:UnspecifiedMatching +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 skos:exactMatch OMIM:619046 semapv:UnspecifiedMatching +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 oboInOwl:hasDbXref OMIM:619048 semapv:UnspecifiedMatching +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 oboInOwl:hasDbXref UMLS:C5436683 semapv:UnspecifiedMatching +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 skos:exactMatch OMIM:619048 semapv:UnspecifiedMatching +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 skos:exactMatch OMIM:619048 semapv:UnspecifiedMatching +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 oboInOwl:hasDbXref OMIM:619051 semapv:UnspecifiedMatching +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 oboInOwl:hasDbXref UMLS:C5436685 semapv:UnspecifiedMatching +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 skos:exactMatch OMIM:619051 semapv:UnspecifiedMatching +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 skos:exactMatch OMIM:619051 semapv:UnspecifiedMatching +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 oboInOwl:hasDbXref OMIM:619052 semapv:UnspecifiedMatching +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 oboInOwl:hasDbXref UMLS:C5436689 semapv:UnspecifiedMatching +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 skos:exactMatch OMIM:619052 semapv:UnspecifiedMatching +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 skos:exactMatch OMIM:619052 semapv:UnspecifiedMatching +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 oboInOwl:hasDbXref OMIM:619053 semapv:UnspecifiedMatching +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 oboInOwl:hasDbXref UMLS:C5436692 semapv:UnspecifiedMatching +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 skos:exactMatch OMIM:619053 semapv:UnspecifiedMatching +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 skos:exactMatch OMIM:619053 semapv:UnspecifiedMatching +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 oboInOwl:hasDbXref OMIM:619054 semapv:UnspecifiedMatching +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 oboInOwl:hasDbXref UMLS:C5436694 semapv:UnspecifiedMatching +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 skos:exactMatch OMIM:619054 semapv:UnspecifiedMatching +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 skos:exactMatch OMIM:619054 semapv:UnspecifiedMatching +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 oboInOwl:hasDbXref OMIM:619055 semapv:UnspecifiedMatching +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 oboInOwl:hasDbXref UMLS:C5436695 semapv:UnspecifiedMatching +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 skos:exactMatch OMIM:619055 semapv:UnspecifiedMatching +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 skos:exactMatch OMIM:619055 semapv:UnspecifiedMatching +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 oboInOwl:hasDbXref OMIM:619058 semapv:UnspecifiedMatching +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 oboInOwl:hasDbXref UMLS:C5436710 semapv:UnspecifiedMatching +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 skos:exactMatch OMIM:619058 semapv:UnspecifiedMatching +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 skos:exactMatch OMIM:619058 semapv:UnspecifiedMatching +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 oboInOwl:hasDbXref OMIM:619059 semapv:UnspecifiedMatching +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 oboInOwl:hasDbXref UMLS:C5436712 semapv:UnspecifiedMatching +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 skos:exactMatch OMIM:619059 semapv:UnspecifiedMatching +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 skos:exactMatch OMIM:619059 semapv:UnspecifiedMatching +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 oboInOwl:hasDbXref OMIM:619060 semapv:UnspecifiedMatching +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 oboInOwl:hasDbXref UMLS:C5436714 semapv:UnspecifiedMatching +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 skos:exactMatch OMIM:619060 semapv:UnspecifiedMatching +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 skos:exactMatch OMIM:619060 semapv:UnspecifiedMatching +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 oboInOwl:hasDbXref OMIM:619061 semapv:UnspecifiedMatching +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 oboInOwl:hasDbXref UMLS:C5436718 semapv:UnspecifiedMatching +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 skos:exactMatch OMIM:619061 semapv:UnspecifiedMatching +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 skos:exactMatch OMIM:619061 semapv:UnspecifiedMatching +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 oboInOwl:hasDbXref OMIM:619062 semapv:UnspecifiedMatching +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 oboInOwl:hasDbXref UMLS:C5436720 semapv:UnspecifiedMatching +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 skos:exactMatch OMIM:619062 semapv:UnspecifiedMatching +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 skos:exactMatch OMIM:619062 semapv:UnspecifiedMatching +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 oboInOwl:hasDbXref OMIM:619063 semapv:UnspecifiedMatching +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 oboInOwl:hasDbXref UMLS:C5436723 semapv:UnspecifiedMatching +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 skos:exactMatch OMIM:619063 semapv:UnspecifiedMatching +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 skos:exactMatch OMIM:619063 semapv:UnspecifiedMatching +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 oboInOwl:hasDbXref OMIM:619064 semapv:UnspecifiedMatching +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 oboInOwl:hasDbXref UMLS:C5436726 semapv:UnspecifiedMatching +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 skos:exactMatch OMIM:619064 semapv:UnspecifiedMatching +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 skos:exactMatch OMIM:619064 semapv:UnspecifiedMatching +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 oboInOwl:hasDbXref OMIM:619065 semapv:UnspecifiedMatching +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 oboInOwl:hasDbXref UMLS:C5436727 semapv:UnspecifiedMatching +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 skos:exactMatch OMIM:619065 semapv:UnspecifiedMatching +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 skos:exactMatch OMIM:619065 semapv:UnspecifiedMatching +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 oboInOwl:hasDbXref OMIM:619355 semapv:UnspecifiedMatching +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 oboInOwl:hasDbXref UMLS:C5543491 semapv:UnspecifiedMatching +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 skos:exactMatch OMIM:619355 semapv:UnspecifiedMatching +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 skos:exactMatch OMIM:619355 semapv:UnspecifiedMatching +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 skos:exactMatch UMLS:C5543491 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref GARD:117 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref MESH:C536632 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref NCI:C129308 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref OMIM:269150 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref ORDO:798 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref UMLS:C0265227 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch GARD:117 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch MESH:C536632 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch NCI:C129308 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch OMIM:269150 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch OMIM:269150 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch ORDO:798 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:18899000 semapv:UnspecifiedMatching +DOID:0070509 Schinzel Giedion syndrome skos:exactMatch UMLS:C0265227 semapv:UnspecifiedMatching +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses oboInOwl:hasDbXref OMIM:620199 semapv:UnspecifiedMatching +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses oboInOwl:hasDbXref UMLS:C5774293 semapv:UnspecifiedMatching +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch OMIM:620199 semapv:UnspecifiedMatching +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch OMIM:620199 semapv:UnspecifiedMatching +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch UMLS:C5774293 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref GARD:12913 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref MESH:C567020 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref OMIM:611087 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref ORDO:500533 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref UMLS:C1970203 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch GARD:12913 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch MESH:C567020 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch ORDO:500533 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch SNOMEDCT_US_2020_03_01:1167371007 semapv:UnspecifiedMatching +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch UMLS:C1970203 semapv:UnspecifiedMatching +DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay oboInOwl:hasDbXref OMIM:620455 semapv:UnspecifiedMatching +DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay skos:exactMatch OMIM:620455 semapv:UnspecifiedMatching +DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay skos:exactMatch OMIM:620455 semapv:UnspecifiedMatching +DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities oboInOwl:hasDbXref OMIM:620489 semapv:UnspecifiedMatching +DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:620489 semapv:UnspecifiedMatching +DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:620489 semapv:UnspecifiedMatching +DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies oboInOwl:hasDbXref OMIM:617755 semapv:UnspecifiedMatching +DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 semapv:UnspecifiedMatching +DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref GARD:10740 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref OMIM:611913 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref ORDO:261197 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref UMLS:C3150154 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref UMLS:C4273657 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:broadMatch ICD10CM:Q93.5 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch GARD:10740 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch OMIM:611913 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch OMIM:611913 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch ORDO:261197 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C4273657 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome oboInOwl:hasDbXref OMIM:618960 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome oboInOwl:hasDbXref ORDO:631248 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome oboInOwl:hasDbXref UMLS:C5394554 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome skos:exactMatch OMIM:618960 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome skos:exactMatch OMIM:618960 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome skos:exactMatch ORDO:631248 semapv:UnspecifiedMatching +DOID:0070516 Mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching -DOID:0080001 bone disease oboInOwl:hasDbXref UMLS_CUI:C0005940 semapv:UnspecifiedMatching +DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching DOID:0080011 bone resorption disease oboInOwl:hasDbXref MESH:D001862 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref GARD:7673 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref ICD10CM:Q05 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref ICD9CM:741 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref MESH:D016135 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref NCI:C101214 semapv:UnspecifiedMatching -DOID:0080016 spina bifida oboInOwl:hasDbXref UMLS_CUI:C0080178 semapv:UnspecifiedMatching +DOID:0080016 spina bifida oboInOwl:hasDbXref UMLS:C0080178 semapv:UnspecifiedMatching DOID:0080016 spina bifida skos:exactMatch MESH:D016135 semapv:UnspecifiedMatching DOID:0080016 spina bifida skos:exactMatch NCI:C101214 semapv:UnspecifiedMatching DOID:0080019 metaphyseal dysplasia oboInOwl:hasDbXref OMIM:215050 semapv:UnspecifiedMatching @@ -5932,7 +6189,7 @@ DOID:0080037 Worth syndrome oboInOwl:hasDbXref GARD:390 semapv:UnspecifiedMatchi DOID:0080037 Worth syndrome oboInOwl:hasDbXref MESH:C536748 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref ORDO:2790 semapv:UnspecifiedMatching -DOID:0080037 Worth syndrome oboInOwl:hasDbXref UMLS_CUI:C0432273 semapv:UnspecifiedMatching +DOID:0080037 Worth syndrome oboInOwl:hasDbXref UMLS:C0432273 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome skos:exactMatch OMIM:144750 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref GARD:4611 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref MESH:D058631 semapv:UnspecifiedMatching @@ -5949,7 +6206,7 @@ DOID:0080041 hypochondroplasia oboInOwl:hasDbXref MESH:C562937 semapv:Unspecifie DOID:0080041 hypochondroplasia oboInOwl:hasDbXref NCI:C118697 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ORDO:429 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref UMLS_CUI:C0410529 semapv:UnspecifiedMatching +DOID:0080041 hypochondroplasia oboInOwl:hasDbXref UMLS:C0410529 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia skos:exactMatch OMIM:146000 semapv:UnspecifiedMatching DOID:0080042 autosomal recessive spinocerebellar ataxia 18 oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching DOID:0080042 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch OMIM:616204 semapv:UnspecifiedMatching @@ -6036,7 +6293,7 @@ DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:6789 semapv:U DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref MESH:D007418 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref NCI:C34733 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref ORDO:2978 semapv:UnspecifiedMatching -DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref UMLS_CUI:C0021847 semapv:UnspecifiedMatching +DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref UMLS:C0021847 semapv:UnspecifiedMatching DOID:0080073 spina bifida occulta oboInOwl:hasDbXref MESH:D016136 semapv:UnspecifiedMatching DOID:0080074 neural tube defect oboInOwl:hasDbXref GARD:4016 semapv:UnspecifiedMatching DOID:0080074 neural tube defect oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching @@ -6169,7 +6426,7 @@ DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MESH:D002549 semapv DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref NCI:C35257 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ORDO:726 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS_CUI:C0205710 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS:C0205710 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome skos:exactMatch MESH:D002549 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome skos:exactMatch OMIM:203700 semapv:UnspecifiedMatching DOID:0080123 mitochondrial DNA depletion syndrome 4b oboInOwl:hasDbXref OMIM:613662 semapv:UnspecifiedMatching @@ -6247,7 +6504,7 @@ DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref O DOID:0080143 congenital fibrosis of the extraocular muscles skos:exactMatch OMIMPS:135700 semapv:UnspecifiedMatching DOID:0080144 childhood acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C3168 semapv:UnspecifiedMatching DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C5640 semapv:UnspecifiedMatching -DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS_CUI:C1332997 semapv:UnspecifiedMatching +DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1332997 semapv:UnspecifiedMatching DOID:0080146 childhood B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C9140 semapv:UnspecifiedMatching DOID:0080147 lymphoblastic lymphoma oboInOwl:hasDbXref GARD:3329 semapv:UnspecifiedMatching DOID:0080148 T-cell childhood lymphoblastic lymphoma oboInOwl:hasDbXref NCI:C7210 semapv:UnspecifiedMatching @@ -6283,7 +6540,7 @@ DOID:0080163 otulipenia oboInOwl:hasDbXref GARD:13198 semapv:UnspecifiedMatching DOID:0080163 otulipenia oboInOwl:hasDbXref OMIM:617099 semapv:UnspecifiedMatching DOID:0080163 otulipenia skos:exactMatch OMIM:617099 semapv:UnspecifiedMatching DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 oboInOwl:hasDbXref NCI:C84270 semapv:UnspecifiedMatching -DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 oboInOwl:hasDbXref UMLS_CUI:C2827356 semapv:UnspecifiedMatching +DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 oboInOwl:hasDbXref UMLS:C2827356 semapv:UnspecifiedMatching DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement oboInOwl:hasDbXref NCI:C84275 semapv:UnspecifiedMatching DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement oboInOwl:hasDbXref NCI:C84276 semapv:UnspecifiedMatching DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities oboInOwl:hasDbXref NCI:C84277 semapv:UnspecifiedMatching @@ -6352,7 +6609,7 @@ DOID:0080198 infantile histiocytoid cardiomyopathy skos:exactMatch OMIM:500000 s DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref EFO:1001951 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref MESH:D015179 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref NCI:C2955 semapv:UnspecifiedMatching -DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0009402 semapv:UnspecifiedMatching +DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref UMLS:C0009402 semapv:UnspecifiedMatching DOID:0080200 bilateral renal aplasia oboInOwl:hasDbXref ORDO:1848 semapv:UnspecifiedMatching DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref GARD:8422 semapv:UnspecifiedMatching DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref OMIM:261540 semapv:UnspecifiedMatching @@ -6370,9 +6627,9 @@ DOID:0080206 CAKUT1 oboInOwl:hasDbXref OMIM:610805 semapv:UnspecifiedMatching DOID:0080206 CAKUT1 skos:exactMatch OMIM:610805 semapv:UnspecifiedMatching DOID:0080207 CAKUT2 oboInOwl:hasDbXref OMIM:143400 semapv:UnspecifiedMatching DOID:0080207 CAKUT2 skos:exactMatch OMIM:143400 semapv:UnspecifiedMatching -DOID:0080208 non-alcoholic fatty liver disease oboInOwl:hasDbXref MESH:D065626 semapv:UnspecifiedMatching -DOID:0080208 non-alcoholic fatty liver disease oboInOwl:hasDbXref OMIM:613282 semapv:UnspecifiedMatching -DOID:0080208 non-alcoholic fatty liver disease oboInOwl:hasDbXref OMIM:613387 semapv:UnspecifiedMatching +DOID:0080208 metabolic dysfunction-associated steatotic liver disease oboInOwl:hasDbXref MESH:D065626 semapv:UnspecifiedMatching +DOID:0080208 metabolic dysfunction-associated steatotic liver disease oboInOwl:hasDbXref OMIM:613282 semapv:UnspecifiedMatching +DOID:0080208 metabolic dysfunction-associated steatotic liver disease oboInOwl:hasDbXref OMIM:613387 semapv:UnspecifiedMatching DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay oboInOwl:hasDbXref OMIM:616084 semapv:UnspecifiedMatching DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay skos:exactMatch OMIM:616084 semapv:UnspecifiedMatching DOID:0080210 primary mediastinal B-cell lymphoma oboInOwl:hasDbXref ICD10CM:C85.2 semapv:UnspecifiedMatching @@ -6559,7 +6816,7 @@ DOID:0080301 atypical hemolytic-uremic syndrome oboInOwl:hasDbXref MESH:D065766 DOID:0080301 atypical hemolytic-uremic syndrome oboInOwl:hasDbXref ORDO:2134 semapv:UnspecifiedMatching DOID:0080301 atypical hemolytic-uremic syndrome skos:exactMatch MESH:D065766 semapv:UnspecifiedMatching DOID:0080302 mixed sleep apnea oboInOwl:hasDbXref MESH:D012891 semapv:UnspecifiedMatching -DOID:0080302 mixed sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0338495 semapv:UnspecifiedMatching +DOID:0080302 mixed sleep apnea oboInOwl:hasDbXref UMLS:C0338495 semapv:UnspecifiedMatching DOID:0080307 myofibrillar myopathy oboInOwl:hasDbXref GARD:10529 semapv:UnspecifiedMatching DOID:0080307 myofibrillar myopathy oboInOwl:hasDbXref MESH:C580316 semapv:UnspecifiedMatching DOID:0080307 myofibrillar myopathy oboInOwl:hasDbXref OMIMPS:601419 semapv:UnspecifiedMatching @@ -6575,22 +6832,22 @@ DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformatio DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref MESH:C563047 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref OMIM:119550 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ORDO:2016 semapv:UnspecifiedMatching -DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS_CUI:C0795898 semapv:UnspecifiedMatching +DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS:C0795898 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome skos:exactMatch OMIM:119550 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref MESH:C566579 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching -DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS_CUI:C1838190 semapv:UnspecifiedMatching -DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS_CUI:C1865869 semapv:UnspecifiedMatching +DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS:C1838190 semapv:UnspecifiedMatching +DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS:C1865869 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 skos:exactMatch OMIM:602093 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref GARD:3445 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIMPS:604004 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ORDO:2478 semapv:UnspecifiedMatching -DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS_CUI:C1858854 semapv:UnspecifiedMatching +DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS:C1858854 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIMPS:604004 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref OMIM:604004 semapv:UnspecifiedMatching -DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref UMLS_CUI:C1858854 semapv:UnspecifiedMatching +DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref UMLS:C1858854 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch OMIM:604004 semapv:UnspecifiedMatching DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B skos:exactMatch OMIM:613926 semapv:UnspecifiedMatching @@ -6610,7 +6867,7 @@ DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D02474 DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C84773 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref OMIMPS:192600 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0949658 semapv:UnspecifiedMatching +DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C0949658 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy skos:exactMatch OMIMPS:192600 semapv:UnspecifiedMatching DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly oboInOwl:hasDbXref OMIM:236500 semapv:UnspecifiedMatching DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly skos:exactMatch OMIM:236500 semapv:UnspecifiedMatching @@ -6681,13 +6938,25 @@ DOID:0080354 Phelan-McDermid syndrome skos:exactMatch OMIM:606232 semapv:Unspeci DOID:0080356 IgG4-related disease oboInOwl:hasDbXref GARD:12521 semapv:UnspecifiedMatching DOID:0080356 IgG4-related disease oboInOwl:hasDbXref ORDO:284264 semapv:UnspecifiedMatching DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:604377 semapv:UnspecifiedMatching +DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 oboInOwl:hasDbXref UMLS:C5399977 semapv:UnspecifiedMatching DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 skos:exactMatch OMIM:604377 semapv:UnspecifiedMatching +DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 skos:exactMatch OMIM:604377 semapv:UnspecifiedMatching +DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 oboInOwl:hasDbXref OMIM:615119 semapv:UnspecifiedMatching +DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 oboInOwl:hasDbXref UMLS:C3554534 semapv:UnspecifiedMatching +DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 skos:exactMatch OMIM:615119 semapv:UnspecifiedMatching DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 skos:exactMatch OMIM:615119 semapv:UnspecifiedMatching +DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 oboInOwl:hasDbXref OMIM:616500 semapv:UnspecifiedMatching +DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 oboInOwl:hasDbXref UMLS:C4225154 semapv:UnspecifiedMatching DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 skos:exactMatch OMIM:616500 semapv:UnspecifiedMatching +DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 skos:exactMatch OMIM:616500 semapv:UnspecifiedMatching +DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 oboInOwl:hasDbXref OMIM:616501 semapv:UnspecifiedMatching +DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 oboInOwl:hasDbXref UMLS:C4225304 semapv:UnspecifiedMatching +DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 skos:exactMatch OMIM:616501 semapv:UnspecifiedMatching DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 skos:exactMatch OMIM:616501 semapv:UnspecifiedMatching +DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref GARD:6447 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref MESH:C536561 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref OMIM:602079 semapv:UnspecifiedMatching @@ -6736,7 +7005,7 @@ DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref MEDDRA:10060740 semapv DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref NCI:C122795 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref OMIM:256300 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref ORDO:839 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C0403399 semapv:UnspecifiedMatching +DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref UMLS:C0403399 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 skos:exactMatch OMIM:256300 semapv:UnspecifiedMatching DOID:0080391 nephrotic syndrome type 9 oboInOwl:hasDbXref OMIM:615573 semapv:UnspecifiedMatching DOID:0080391 nephrotic syndrome type 9 skos:exactMatch OMIM:615573 semapv:UnspecifiedMatching @@ -7238,7 +7507,7 @@ DOID:0080598 Kleefstra syndrome 2 skos:exactMatch OMIM:617768 semapv:Unspecified DOID:0080600 COVID-19 oboInOwl:hasDbXref ICD10CM:U07.1 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref MESH:D000086382 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref NCI:C171133 semapv:UnspecifiedMatching -DOID:0080600 COVID-19 oboInOwl:hasDbXref UMLS_CUI:C5203670 semapv:UnspecifiedMatching +DOID:0080600 COVID-19 oboInOwl:hasDbXref UMLS:C5203670 semapv:UnspecifiedMatching DOID:0080602 benign teratoma oboInOwl:hasDbXref ICDO:9080/1 semapv:UnspecifiedMatching DOID:0080602 benign teratoma oboInOwl:hasDbXref NCI:C67107 semapv:UnspecifiedMatching DOID:0080603 ankylosing spondylitis 1 oboInOwl:hasDbXref OMIM:106300 semapv:UnspecifiedMatching @@ -7293,7 +7562,7 @@ DOID:0080629 alopecia-mental retardation syndrome 2 oboInOwl:hasDbXref OMIM:6104 DOID:0080629 alopecia-mental retardation syndrome 2 skos:exactMatch OMIM:610422 semapv:UnspecifiedMatching DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref ICDO:9836/3 semapv:UnspecifiedMatching DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8936 semapv:UnspecifiedMatching -DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS_CUI:C0862030 semapv:UnspecifiedMatching +DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0862030 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref GARD:955 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref ORDO:1299 semapv:UnspecifiedMatching @@ -7369,7 +7638,7 @@ DOID:0080672 fibrochondrogenesis 1 skos:exactMatch OMIM:228520 semapv:Unspecifie DOID:0080673 fibrochondrogenesis 2 oboInOwl:hasDbXref OMIM:614524 semapv:UnspecifiedMatching DOID:0080673 fibrochondrogenesis 2 skos:exactMatch OMIM:614524 semapv:UnspecifiedMatching DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref NCI:C53555 semapv:UnspecifiedMatching -DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref UMLS_CUI:C3642346 semapv:UnspecifiedMatching +DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref UMLS:C3642346 semapv:UnspecifiedMatching DOID:0080675 Stickler syndrome 2 oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching DOID:0080675 Stickler syndrome 2 skos:exactMatch OMIM:604841 semapv:UnspecifiedMatching DOID:0080676 Stickler syndrome 1 oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching @@ -7417,7 +7686,7 @@ DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref MESH:C537548 semapv:Unsp DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref NCI:C132195 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIMPS:251300 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref ORDO:2065 semapv:UnspecifiedMatching -DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS_CUI:C0795949 semapv:UnspecifiedMatching +DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS:C0795949 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome skos:exactMatch OMIMPS:251300 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref GARD:10041 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref MESH:C537411 semapv:UnspecifiedMatching @@ -7465,8 +7734,8 @@ DOID:0080718 GNE myopathy oboInOwl:hasDbXref MESH:C538329 semapv:UnspecifiedMatc DOID:0080718 GNE myopathy oboInOwl:hasDbXref NCI:C176900 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref OMIM:605820 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref ORDO:602 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS_CUI:C1833373 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS_CUI:C1853926 semapv:UnspecifiedMatching +DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS:C1833373 semapv:UnspecifiedMatching +DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS:C1853926 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy skos:exactMatch MESH:C536816 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy skos:exactMatch OMIM:605820 semapv:UnspecifiedMatching DOID:0080719 congenital myopathy 6 oboInOwl:hasDbXref GARD:9494 semapv:UnspecifiedMatching @@ -7593,7 +7862,7 @@ DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref ICD10CM DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref NCI:C120191 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:99429 semapv:UnspecifiedMatching -DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref UMLS_CUI:C0936016 semapv:UnspecifiedMatching +DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0936016 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref GARD:5692 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:90797 semapv:UnspecifiedMatching @@ -7662,7 +7931,7 @@ DOID:0080833 laryngomalacia oboInOwl:hasDbXref GARD:6865 semapv:UnspecifiedMatch DOID:0080833 laryngomalacia oboInOwl:hasDbXref ICD10CM:Q31.5 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref OMIM:150280 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref ORDO:2373 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia oboInOwl:hasDbXref UMLS_CUI:C0345160 semapv:UnspecifiedMatching +DOID:0080833 laryngomalacia oboInOwl:hasDbXref UMLS:C0345160 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia skos:exactMatch OMIM:150280 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia skos:narrowMatch MESH:D055092 semapv:UnspecifiedMatching DOID:0080835 TORCH syndrome oboInOwl:hasDbXref GARD:7781 semapv:UnspecifiedMatching @@ -7678,17 +7947,17 @@ DOID:0080840 optic atrophy 12 oboInOwl:hasDbXref OMIM:618977 semapv:UnspecifiedM DOID:0080840 optic atrophy 12 skos:exactMatch OMIM:618977 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref NCI:C4656 semapv:UnspecifiedMatching -DOID:0080842 intracranial meningioma oboInOwl:hasDbXref UMLS_CUI:C0349604 semapv:UnspecifiedMatching +DOID:0080842 intracranial meningioma oboInOwl:hasDbXref UMLS:C0349604 semapv:UnspecifiedMatching DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref NCI:C6971 semapv:UnspecifiedMatching -DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref UMLS_CUI:C1334698 semapv:UnspecifiedMatching +DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref UMLS:C1334698 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref MESH:C537746 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref ORDO:93329 semapv:UnspecifiedMatching -DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C1850318 semapv:UnspecifiedMatching +DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref UMLS:C1850318 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 skos:exactMatch OMIM:258315 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref MESH:C567664 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching -DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref UMLS_CUI:C2750355 semapv:UnspecifiedMatching +DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref UMLS:C2750355 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 skos:exactMatch OMIM:164745 semapv:UnspecifiedMatching DOID:0080846 latent autoimmune diabetes in adults oboInOwl:hasDbXref MESH:D000071698 semapv:UnspecifiedMatching DOID:0080846 latent autoimmune diabetes in adults skos:exactMatch MESH:D000071698 semapv:UnspecifiedMatching @@ -7700,10 +7969,10 @@ DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref GARD:7354 semapv:Unspecified DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref ICD10CM:L10.2 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref ORDO:79481 semapv:UnspecifiedMatching -DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref UMLS_CUI:C0263313 semapv:UnspecifiedMatching -DOID:0080851 IgA pemphigus oboInOwl:hasDbXref UMLS_CUI:C1274167 semapv:UnspecifiedMatching +DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263313 semapv:UnspecifiedMatching +DOID:0080851 IgA pemphigus oboInOwl:hasDbXref UMLS:C1274167 semapv:UnspecifiedMatching DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref ICD10CM:L10.81 semapv:UnspecifiedMatching -DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref UMLS_CUI:C1112570 semapv:UnspecifiedMatching +DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref UMLS:C1112570 semapv:UnspecifiedMatching DOID:0080854 anaplastic pleomorphic xanthoastrocytoma oboInOwl:hasDbXref NCI:C129327 semapv:UnspecifiedMatching DOID:0080857 primary ovarian insufficiency 1 oboInOwl:hasDbXref GARD:4480 semapv:UnspecifiedMatching DOID:0080857 primary ovarian insufficiency 1 oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching @@ -7754,7 +8023,7 @@ DOID:0080880 diffuse glioma, H3 G34 mutant oboInOwl:hasDbXref NCI:C185371 semapv DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma oboInOwl:hasDbXref NCI:C129321 semapv:UnspecifiedMatching DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref ICD10CM:E55.0 semapv:UnspecifiedMatching DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref ICD9CM:268.0 semapv:UnspecifiedMatching -DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref UMLS_CUI:C0221468 semapv:UnspecifiedMatching +DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref UMLS:C0221468 semapv:UnspecifiedMatching DOID:0080884 vitamin D-dependent rickets type 2A oboInOwl:hasDbXref OMIM:277440 semapv:UnspecifiedMatching DOID:0080884 vitamin D-dependent rickets type 2A oboInOwl:hasDbXref ORDO:93160 semapv:UnspecifiedMatching DOID:0080884 vitamin D-dependent rickets type 2A skos:exactMatch OMIM:277440 semapv:UnspecifiedMatching @@ -7788,7 +8057,7 @@ DOID:0080898 cerebellofaciodental syndrome skos:exactMatch OMIM:616202 semapv:Un DOID:0080899 lung pleomorphic carcinoma oboInOwl:hasDbXref NCI:C45542 semapv:UnspecifiedMatching DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C4915 semapv:UnspecifiedMatching -DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS_CUI:C0700367 semapv:UnspecifiedMatching +DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS:C0700367 semapv:UnspecifiedMatching DOID:0080904 astroblastoma, MN1-altered oboInOwl:hasDbXref ICDO:9430/3 semapv:UnspecifiedMatching DOID:0080905 central nervous system neuroblastoma oboInOwl:hasDbXref NCI:C4826 semapv:UnspecifiedMatching DOID:0080906 CNS neuroblastoma with FOXR2 activation oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching @@ -7841,7 +8110,7 @@ DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:615752 DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ORDO:98889 semapv:UnspecifiedMatching DOID:0080924 bilateral perisylvian polymicrogyria skos:exactMatch OMIM:615752 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref GARD:12664 semapv:UnspecifiedMatching -DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref NCI:131302 semapv:UnspecifiedMatching +DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref NCI:C131302 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency skos:exactMatch OMIM:613571 semapv:UnspecifiedMatching DOID:0080926 7q11.23 duplication syndrome oboInOwl:hasDbXref GARD:12076 semapv:UnspecifiedMatching @@ -8037,7 +8306,7 @@ DOID:0081025 retinal cone dystrophy 3A skos:exactMatch OMIM:610024 semapv:Unspec DOID:0081026 benign peritoneal solitary fibrous tumor oboInOwl:hasDbXref NCI:C126357 semapv:UnspecifiedMatching DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref ICDO:8315/3 semapv:UnspecifiedMatching DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref NCI:C4153 semapv:UnspecifiedMatching -DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334319 semapv:UnspecifiedMatching +DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref UMLS:C0334319 semapv:UnspecifiedMatching DOID:0081030 central conducting lymphatic anomaly oboInOwl:hasDbXref OMIM:617300 semapv:UnspecifiedMatching DOID:0081030 central conducting lymphatic anomaly skos:exactMatch OMIM:617300 semapv:UnspecifiedMatching DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching @@ -8119,48 +8388,48 @@ DOID:0081079 ectodermal dysplasia and immunodeficiency 2 oboInOwl:hasDbXref OMIM DOID:0081079 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref ICDO:9865/3 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref NCI:C82423 semapv:UnspecifiedMatching -DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref UMLS_CUI:C2826169 semapv:UnspecifiedMatching +DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref UMLS:C2826169 semapv:UnspecifiedMatching DOID:0081081 acute promyelocytic leukemia with PML-RARA oboInOwl:hasDbXref ICDO:9866/3 semapv:UnspecifiedMatching DOID:0081081 acute promyelocytic leukemia with PML-RARA oboInOwl:hasDbXref NCI:C3182 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10CM:C92.5 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref ICDO:9867/3 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015479 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref NCI:C7463 semapv:UnspecifiedMatching -DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023479 semapv:UnspecifiedMatching +DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023479 semapv:UnspecifiedMatching DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref ICDO:9869/3 semapv:UnspecifiedMatching DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref NCI:C82426 semapv:UnspecifiedMatching -DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref UMLS_CUI:C2826172 semapv:UnspecifiedMatching +DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref UMLS:C2826172 semapv:UnspecifiedMatching DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) oboInOwl:hasDbXref ICDO:9871/3 semapv:UnspecifiedMatching -DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) oboInOwl:hasDbXref UMLS_CUI:C0522630 semapv:UnspecifiedMatching +DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) oboInOwl:hasDbXref UMLS:C0522630 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICDO:9872/3 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref NCI:C8460 semapv:UnspecifiedMatching -DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS_CUI:C0522631 semapv:UnspecifiedMatching +DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS:C0522631 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref GARD:526 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ICDO:9873/3 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref NCI:C3249 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ORDO:98833 semapv:UnspecifiedMatching -DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref UMLS_CUI:C0026998 semapv:UnspecifiedMatching +DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref UMLS:C0026998 semapv:UnspecifiedMatching DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref ICDO:9874/3 semapv:UnspecifiedMatching DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref NCI:C3250 semapv:UnspecifiedMatching -DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref UMLS_CUI:C1879321 semapv:UnspecifiedMatching +DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref UMLS:C1879321 semapv:UnspecifiedMatching DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref ICD9CM:205.1 semapv:UnspecifiedMatching DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref ICDO:9875/3 semapv:UnspecifiedMatching -DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref UMLS_CUI:C0023473 semapv:UnspecifiedMatching +DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref UMLS:C0023473 semapv:UnspecifiedMatching DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref ICDO:9877/3 semapv:UnspecifiedMatching DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref NCI:C82431 semapv:UnspecifiedMatching -DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref UMLS_CUI:C2826177 semapv:UnspecifiedMatching +DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref UMLS:C2826177 semapv:UnspecifiedMatching DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA oboInOwl:hasDbXref ICDO:9878/3 semapv:UnspecifiedMatching DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA oboInOwl:hasDbXref NCI:C129782 semapv:UnspecifiedMatching DOID:0081091 acute myeloid leukemia with mutated RUNX1 oboInOwl:hasDbXref ICDO:9879/3 semapv:UnspecifiedMatching DOID:0081091 acute myeloid leukemia with mutated RUNX1 oboInOwl:hasDbXref NCI:C129786 semapv:UnspecifiedMatching DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref ICDO:9895/3 semapv:UnspecifiedMatching DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref NCI:C7600 semapv:UnspecifiedMatching -DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref UMLS_CUI:C2825139 semapv:UnspecifiedMatching +DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref UMLS:C2825139 semapv:UnspecifiedMatching DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) oboInOwl:hasDbXref ICDO:9896/3 semapv:UnspecifiedMatching DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) oboInOwl:hasDbXref NCI:C9288 semapv:UnspecifiedMatching DOID:0081094 acute myeloid leukemia with MLL rearrangement oboInOwl:hasDbXref ICDO:9897/3 semapv:UnspecifiedMatching @@ -8595,10 +8864,10 @@ DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref ICD10CM:C83.8 semapv DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref ICDO:9766/1 semapv:UnspecifiedMatching DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref MESH:D008230 semapv:UnspecifiedMatching DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref NCI:C7930 semapv:UnspecifiedMatching -DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS_CUI:C0024307 semapv:UnspecifiedMatching +DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS:C0024307 semapv:UnspecifiedMatching DOID:0081308 grade I lymphomatoid granulomatosis oboInOwl:hasDbXref ICDO:9766/1 semapv:UnspecifiedMatching DOID:0081308 grade I lymphomatoid granulomatosis oboInOwl:hasDbXref NCI:C7931 semapv:UnspecifiedMatching -DOID:0081308 grade I lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS_CUI:C0279065 semapv:UnspecifiedMatching +DOID:0081308 grade I lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS:C0279065 semapv:UnspecifiedMatching DOID:0081309 grade II lymphomatoid granulomatosis oboInOwl:hasDbXref ICDO:9766/1 semapv:UnspecifiedMatching DOID:0081310 grade III lymphomatoid granulomatosis oboInOwl:hasDbXref ICDO:9766/3 semapv:UnspecifiedMatching DOID:0081311 intravascular large B-cell lymphoma oboInOwl:hasDbXref ICDO:9712/3 semapv:UnspecifiedMatching @@ -8606,10 +8875,10 @@ DOID:0081311 intravascular large B-cell lymphoma oboInOwl:hasDbXref NCI:C4342 se DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref ICDO:9702/3 semapv:UnspecifiedMatching DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D016399 semapv:UnspecifiedMatching DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref NCI:C3466 semapv:UnspecifiedMatching -DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS_CUI:C0079772 semapv:UnspecifiedMatching +DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0079772 semapv:UnspecifiedMatching DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICDO:9680/3 semapv:UnspecifiedMatching DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref NCI:C71720 semapv:UnspecifiedMatching -DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref UMLS_CUI:C2026186 semapv:UnspecifiedMatching +DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref UMLS:C2026186 semapv:UnspecifiedMatching DOID:0081314 extraventricular neurocytoma oboInOwl:hasDbXref ICDO:9506/1 semapv:UnspecifiedMatching DOID:0081314 extraventricular neurocytoma oboInOwl:hasDbXref NCI:C92555 semapv:UnspecifiedMatching DOID:0081315 central nervous system tumor with BCOR internal tandem duplication oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching @@ -8649,11 +8918,13 @@ DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref ICD10CM:E74.01 semapv DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref MESH:D005953 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref NCI:C84733 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref ORDO:364 semapv:UnspecifiedMatching -DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref UMLS_CUI:C0017920 semapv:UnspecifiedMatching +DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref UMLS:C0017920 semapv:UnspecifiedMatching DOID:0081330 glycogen storage disease Ib oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching DOID:0081330 glycogen storage disease Ib skos:exactMatch OMIM:232220 semapv:UnspecifiedMatching DOID:0081331 glycogen storage disease Ic oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching DOID:0081331 glycogen storage disease Ic skos:exactMatch OMIM:232240 semapv:UnspecifiedMatching +DOID:0081332 progeroid syndrome oboInOwl:hasDbXref OMIMPS:176670 semapv:UnspecifiedMatching +DOID:0081332 progeroid syndrome skos:exactMatch OMIMPS:176670 semapv:UnspecifiedMatching DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref GARD:330 semapv:UnspecifiedMatching DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref OMIM:264090 semapv:UnspecifiedMatching DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ORDO:3455 semapv:UnspecifiedMatching @@ -8752,7 +9023,9 @@ DOID:0081375 nemaline myopathy 5C oboInOwl:hasDbXref OMIM:620389 semapv:Unspecif DOID:0081375 nemaline myopathy 5C skos:exactMatch OMIM:620389 semapv:UnspecifiedMatching DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy oboInOwl:hasDbXref OMIM:618912 semapv:UnspecifiedMatching DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy skos:exactMatch OMIM:618912 semapv:UnspecifiedMatching +DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy oboInOwl:hasDbXref GARD:48 semapv:UnspecifiedMatching DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy oboInOwl:hasDbXref ORDO:254905 semapv:UnspecifiedMatching +DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C5779825 semapv:UnspecifiedMatching DOID:0081378 amyotrophic lateral sclerosis type 24 oboInOwl:hasDbXref OMIM:617892 semapv:UnspecifiedMatching DOID:0081378 amyotrophic lateral sclerosis type 24 skos:exactMatch OMIM:617892 semapv:UnspecifiedMatching DOID:0081379 amyotrophic lateral sclerosis type 25 oboInOwl:hasDbXref OMIM:617921 semapv:UnspecifiedMatching @@ -8763,6 +9036,42 @@ DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 oboInOwl:hasDbXref O DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 skos:exactMatch OMIM:620285 semapv:UnspecifiedMatching DOID:0081382 amyotrophic lateral sclerosis type 28 oboInOwl:hasDbXref OMIM:620452 semapv:UnspecifiedMatching DOID:0081382 amyotrophic lateral sclerosis type 28 skos:exactMatch OMIM:620452 semapv:UnspecifiedMatching +DOID:0081383 ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref GARD:13111 semapv:UnspecifiedMatching +DOID:0081383 ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref OMIM:616267 semapv:UnspecifiedMatching +DOID:0081383 ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ORDO:459033 semapv:UnspecifiedMatching +DOID:0081383 ataxia-oculomotor apraxia type 4 skos:exactMatch OMIM:616267 semapv:UnspecifiedMatching +DOID:0081384 ataxia-telangiectasia-like disorder-1 oboInOwl:hasDbXref OMIM:604391 semapv:UnspecifiedMatching +DOID:0081384 ataxia-telangiectasia-like disorder-1 oboInOwl:hasDbXref ORDO:251347 semapv:UnspecifiedMatching +DOID:0081384 ataxia-telangiectasia-like disorder-1 skos:exactMatch OMIM:604391 semapv:UnspecifiedMatching +DOID:0081385 ataxia-telangiectasia-like disorder-2 oboInOwl:hasDbXref OMIM:615919 semapv:UnspecifiedMatching +DOID:0081385 ataxia-telangiectasia-like disorder-2 oboInOwl:hasDbXref ORDO:438134 semapv:UnspecifiedMatching +DOID:0081385 ataxia-telangiectasia-like disorder-2 skos:exactMatch OMIM:615919 semapv:UnspecifiedMatching +DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias oboInOwl:hasDbXref GARD:13423 semapv:UnspecifiedMatching +DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias oboInOwl:hasDbXref OMIM:616878 semapv:UnspecifiedMatching +DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias oboInOwl:hasDbXref ORDO:480864 semapv:UnspecifiedMatching +DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias skos:exactMatch OMIM:616878 semapv:UnspecifiedMatching +DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities oboInOwl:hasDbXref OMIM:620428 semapv:UnspecifiedMatching +DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch OMIM:620428 semapv:UnspecifiedMatching +DOID:0081388 primary progressive aphasia oboInOwl:hasDbXref GARD:8541 semapv:UnspecifiedMatching +DOID:0081388 primary progressive aphasia oboInOwl:hasDbXref ORDO:95432 semapv:UnspecifiedMatching +DOID:0081389 logopenic progressive aphasia oboInOwl:hasDbXref GARD:10791 semapv:UnspecifiedMatching +DOID:0081389 logopenic progressive aphasia oboInOwl:hasDbXref ORDO:250831 semapv:UnspecifiedMatching +DOID:0081390 progressive non-fluent aphasia oboInOwl:hasDbXref GARD:10793 semapv:UnspecifiedMatching +DOID:0081390 progressive non-fluent aphasia oboInOwl:hasDbXref ORDO:100070 semapv:UnspecifiedMatching +DOID:0081391 semantic dementia oboInOwl:hasDbXref GARD:10792 semapv:UnspecifiedMatching +DOID:0081391 semantic dementia oboInOwl:hasDbXref ORDO:100069 semapv:UnspecifiedMatching +DOID:0081392 corticobasal degeneration syndrome oboInOwl:hasDbXref ORDO:454887 semapv:UnspecifiedMatching +DOID:0081394 Caroli syndrome oboInOwl:hasDbXref GARD:6002 semapv:UnspecifiedMatching +DOID:0081395 Harel-Yoon syndrome oboInOwl:hasDbXref OMIM:617183 semapv:UnspecifiedMatching +DOID:0081395 Harel-Yoon syndrome oboInOwl:hasDbXref ORDO:496790 semapv:UnspecifiedMatching +DOID:0081395 Harel-Yoon syndrome skos:exactMatch OMIM:617183 semapv:UnspecifiedMatching +DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching +DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome oboInOwl:hasDbXref ORDO:615983 semapv:UnspecifiedMatching +DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome skos:exactMatch OMIM:618810 semapv:UnspecifiedMatching +DOID:0081397 Vissers-Bodmer syndrome oboInOwl:hasDbXref OMIM:619033 semapv:UnspecifiedMatching +DOID:0081397 Vissers-Bodmer syndrome skos:exactMatch OMIM:619033 semapv:UnspecifiedMatching +DOID:0081398 holoprosencephaly 12 oboInOwl:hasDbXref OMIM:618500 semapv:UnspecifiedMatching +DOID:0081398 holoprosencephaly 12 skos:exactMatch OMIM:618500 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref GARD:6465 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref MESH:D058497 semapv:UnspecifiedMatching @@ -8848,14 +9157,14 @@ DOID:0090019 sitosterolemia oboInOwl:hasDbXref MESH:C537345 semapv:UnspecifiedMa DOID:0090019 sitosterolemia oboInOwl:hasDbXref NCI:C125694 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref ORDO:2882 semapv:UnspecifiedMatching -DOID:0090019 sitosterolemia oboInOwl:hasDbXref UMLS_CUI:C0342907 semapv:UnspecifiedMatching +DOID:0090019 sitosterolemia oboInOwl:hasDbXref UMLS:C0342907 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia skos:exactMatch OMIM:210250 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref GARD:6319 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref OMIMPS:183600 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation skos:exactMatch OMIMPS:183600 semapv:UnspecifiedMatching DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref ICD10CM:Q71.6 semapv:UnspecifiedMatching DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref OMIM:183600 semapv:UnspecifiedMatching @@ -8865,13 +9174,13 @@ DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref MESH:C574275 sema DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref OMIM:606708 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 skos:exactMatch OMIM:606708 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref OMIM:605289 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 skos:exactMatch OMIM:605289 semapv:UnspecifiedMatching DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching @@ -8881,25 +9190,25 @@ DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref MESH:C574275 sema DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 skos:exactMatch OMIM:246560 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref OMIM:225300 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 skos:exactMatch OMIM:225300 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref OMIM:313350 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 skos:exactMatch OMIM:313350 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref MESH:C535393 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref NCI:C155996 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref OMIM:277460 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref ORDO:96 semapv:UnspecifiedMatching -DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref UMLS_CUI:C1848533 semapv:UnspecifiedMatching +DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref UMLS:C1848533 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E skos:exactMatch OMIM:277460 semapv:UnspecifiedMatching DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref ICD10CM:E85.0 semapv:UnspecifiedMatching DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching @@ -9173,7 +9482,7 @@ DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref MESH:C5353 DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref NCI:C138171 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref OMIM:261640 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref ORDO:13 semapv:UnspecifiedMatching -DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref UMLS_CUI:C0878676 semapv:UnspecifiedMatching +DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref UMLS:C0878676 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A skos:exactMatch OMIM:261640 semapv:UnspecifiedMatching DOID:0090107 autosomal dominant hypocalcemia 1 oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching DOID:0090107 autosomal dominant hypocalcemia 1 skos:exactMatch OMIM:601198 semapv:UnspecifiedMatching @@ -9198,7 +9507,7 @@ DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref GARD:9921 semapv:Unspecified DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref MESH:C536329 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:221770 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref ORDO:2770 semapv:UnspecifiedMatching -DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref UMLS_CUI:C1857316 semapv:UnspecifiedMatching +DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref UMLS:C1857316 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease skos:exactMatch OMIM:221770 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref MESH:C567453 semapv:UnspecifiedMatching @@ -9221,24 +9530,24 @@ DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXre DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ORDO:498277 semapv:UnspecifiedMatching -DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS_CUI:C0342287 semapv:UnspecifiedMatching +DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C0342287 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch OMIM:249270 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref GARD:640 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref NCI:C115207 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ORDO:3319 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C1327915 semapv:UnspecifiedMatching +DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS:C1327915 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia skos:exactMatch OMIM:604498 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:106260 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref ORDO:1071 semapv:UnspecifiedMatching -DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS_CUI:C1785148 semapv:UnspecifiedMatching +DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C1785148 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch OMIM:106260 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref MESH:C563010 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref ORDO:279943 semapv:UnspecifiedMatching -DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref UMLS_CUI:C0543669 semapv:UnspecifiedMatching +DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref UMLS:C0543669 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia skos:exactMatch OMIM:162830 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref GARD:12949 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref ICD10CM:E30.1 semapv:UnspecifiedMatching @@ -9251,12 +9560,12 @@ DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref M DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref NCI:C142085 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ORDO:35708 semapv:UnspecifiedMatching -DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C1291564 semapv:UnspecifiedMatching +DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C1291564 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency skos:exactMatch OMIM:608643 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref OMIM:208100 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref ORDO:1143 semapv:UnspecifiedMatching -DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref UMLS_CUI:C1859721 semapv:UnspecifiedMatching +DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref UMLS:C1859721 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 skos:exactMatch OMIM:208100 semapv:UnspecifiedMatching DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref ORDO:36383 semapv:UnspecifiedMatching @@ -9268,7 +9577,7 @@ DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency skos:exact DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref MESH:C537560 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref ORDO:2848 semapv:UnspecifiedMatching -DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref UMLS_CUI:C1859690 semapv:UnspecifiedMatching +DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref UMLS:C1859690 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch OMIM:208250 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref GARD:5595 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref MESH:C535581 semapv:UnspecifiedMatching @@ -9320,8 +9629,8 @@ DOID:0090142 cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:Unspecified DOID:0090142 cystathioninuria oboInOwl:hasDbXref NCI:C129070 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref OMIM:219500 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref ORDO:212 semapv:UnspecifiedMatching -DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS_CUI:C0220993 semapv:UnspecifiedMatching -DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS_CUI:C0268616 semapv:UnspecifiedMatching +DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS:C0220993 semapv:UnspecifiedMatching +DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS:C0268616 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria skos:exactMatch OMIM:219500 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref GARD:5478 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10CM:Q76.3 semapv:UnspecifiedMatching @@ -9332,13 +9641,13 @@ DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref GARD:1899 semapv:Unspecif DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref MESH:C536390 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref OMIM:222448 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref ORDO:2143 semapv:UnspecifiedMatching -DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref UMLS_CUI:C1857277 semapv:UnspecifiedMatching +DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref UMLS:C1857277 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome skos:exactMatch OMIM:222448 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref GARD:1903 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ORDO:230 semapv:UnspecifiedMatching -DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342687 semapv:UnspecifiedMatching +DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0342687 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency skos:exactMatch OMIM:223360 semapv:UnspecifiedMatching DOID:0110000 3-methylglutaconic aciduria type 5 oboInOwl:hasDbXref OMIM:610198 semapv:UnspecifiedMatching DOID:0110000 3-methylglutaconic aciduria type 5 oboInOwl:hasDbXref ORDO:66634 semapv:UnspecifiedMatching @@ -10444,7 +10753,7 @@ DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref MESH:D010013 sema DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref NCI:C99003 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref ORDO:216796 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref UMLS_CUI:C0023931 semapv:UnspecifiedMatching +DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref UMLS:C0023931 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 skos:exactMatch OMIM:166200 semapv:UnspecifiedMatching DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching @@ -11398,7 +11707,7 @@ DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXr DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref NCI:C118783 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref OMIM:607855 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref ORDO:258 semapv:UnspecifiedMatching -DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref UMLS_CUI:C1263858 semapv:UnspecifiedMatching +DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref UMLS:C1263858 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch OMIM:607855 semapv:UnspecifiedMatching DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching @@ -11638,7 +11947,7 @@ DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref G DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref MESH:C538421 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref OMIMPS:234200 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref ORDO:385 semapv:UnspecifiedMatching -DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref UMLS_CUI:C2931845 semapv:UnspecifiedMatching +DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref UMLS:C2931845 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation skos:exactMatch OMIMPS:234200 semapv:UnspecifiedMatching DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref GARD:2751 semapv:UnspecifiedMatching DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching @@ -11650,7 +11959,7 @@ DOID:0110736 neurodegeneration with brain iron accumulation 2b skos:exactMatch O DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref MESH:C548080 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref OMIM:606159 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref ORDO:157846 semapv:UnspecifiedMatching -DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref UMLS_CUI:C1853578 semapv:UnspecifiedMatching +DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref UMLS:C1853578 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 skos:exactMatch OMIM:606159 semapv:UnspecifiedMatching DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref OMIM:614298 semapv:UnspecifiedMatching @@ -11957,10 +12266,10 @@ DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref ICD10CM:G11.4 se DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref OMIM:607259 semapv:UnspecifiedMatching DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref ORDO:99013 semapv:UnspecifiedMatching DOID:0110816 hereditary spastic paraplegia 7 skos:exactMatch OMIM:607259 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref ORDO:401849 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72 skos:exactMatch OMIM:615625 semapv:UnspecifiedMatching +DOID:0110817 hereditary spastic paraplegia 72A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110817 hereditary spastic paraplegia 72A oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching +DOID:0110817 hereditary spastic paraplegia 72A oboInOwl:hasDbXref ORDO:401849 semapv:UnspecifiedMatching +DOID:0110817 hereditary spastic paraplegia 72A skos:exactMatch OMIM:615625 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref ORDO:444099 semapv:UnspecifiedMatching @@ -12008,7 +12317,7 @@ DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref MESH:D052 DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref NCI:C126329 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref ORDO:231183 semapv:UnspecifiedMatching -DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref UMLS_CUI:C1568248 semapv:UnspecifiedMatching +DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref UMLS:C1568248 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 semapv:UnspecifiedMatching DOID:0110830 Usher syndrome type 1C oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110830 Usher syndrome type 1C oboInOwl:hasDbXref OMIM:276904 semapv:UnspecifiedMatching @@ -12116,7 +12425,7 @@ DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ME DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref NCI:C84579 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ORDO:731 semapv:UnspecifiedMatching -DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0085548 semapv:UnspecifiedMatching +DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching DOID:0110862 congenital stationary night blindness autosomal dominant 1 oboInOwl:hasDbXref OMIM:610445 semapv:UnspecifiedMatching DOID:0110862 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 semapv:UnspecifiedMatching @@ -12319,13 +12628,13 @@ DOID:0110936 nemaline myopathy 5A skos:exactMatch OMIM:605355 semapv:Unspecified DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref MESH:C536056 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref OMIM:607634 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref ORDO:2783 semapv:UnspecifiedMatching -DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref UMLS_CUI:C1843330 semapv:UnspecifiedMatching +DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref UMLS:C1843330 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 skos:exactMatch OMIM:607634 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref GARD:383 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref OMIM:166600 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref ORDO:53 semapv:UnspecifiedMatching -DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref UMLS_CUI:C3179239 semapv:UnspecifiedMatching +DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref UMLS:C3179239 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 skos:exactMatch OMIM:166600 semapv:UnspecifiedMatching DOID:0110939 autosomal recessive osteopetrosis 5 oboInOwl:hasDbXref GARD:4153 semapv:UnspecifiedMatching DOID:0110939 autosomal recessive osteopetrosis 5 oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching @@ -12360,7 +12669,7 @@ DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref MESH:D014849 semapv: DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref NCI:C75008 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref ORDO:894 semapv:UnspecifiedMatching -DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C1847800 semapv:UnspecifiedMatching +DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 skos:exactMatch OMIM:193500 semapv:UnspecifiedMatching DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref GARD:5523 semapv:UnspecifiedMatching DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching @@ -12419,7 +12728,7 @@ DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref GARD:979 semapv:Unspecifie DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref MESH:C537089 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref OMIM:112600 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref ORDO:93396 semapv:UnspecifiedMatching -DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref UMLS_CUI:C1832702 semapv:UnspecifiedMatching +DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref UMLS:C1832702 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 skos:exactMatch OMIM:112600 semapv:UnspecifiedMatching DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref GARD:963 semapv:UnspecifiedMatching DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref MESH:C537090 semapv:UnspecifiedMatching @@ -12434,7 +12743,7 @@ DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref GARD:983 semapv:Unspecifie DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref MESH:C537092 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref OMIM:112910 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref ORDO:93382 semapv:UnspecifiedMatching -DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref UMLS_CUI:C1862130 semapv:UnspecifiedMatching +DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref UMLS:C1862130 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 skos:exactMatch OMIM:112910 semapv:UnspecifiedMatching DOID:0110969 brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching DOID:0110969 brachydactyly type B1 skos:exactMatch OMIM:113000 semapv:UnspecifiedMatching @@ -12442,8 +12751,8 @@ DOID:0110970 brachydactyly type C oboInOwl:hasDbXref GARD:986 semapv:Unspecified DOID:0110970 brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref ORDO:93384 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS_CUI:C1300268 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS_CUI:C1862103 semapv:UnspecifiedMatching +DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS:C1300268 semapv:UnspecifiedMatching +DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS:C1862103 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C skos:exactMatch OMIM:113100 semapv:UnspecifiedMatching DOID:0110971 brachydactyly type D oboInOwl:hasDbXref OMIM:113200 semapv:UnspecifiedMatching DOID:0110971 brachydactyly type D skos:exactMatch OMIM:113200 semapv:UnspecifiedMatching @@ -12452,7 +12761,7 @@ DOID:0110972 brachydactyly type E1 skos:exactMatch OMIM:113300 semapv:Unspecifie DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref MESH:C535914 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref OMIM:301940 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref ORDO:2565 semapv:UnspecifiedMatching -DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS_CUI:C2931060 semapv:UnspecifiedMatching +DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS:C2931060 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome skos:exactMatch OMIM:301940 semapv:UnspecifiedMatching DOID:0110974 brachydactyly type A1B oboInOwl:hasDbXref OMIM:607004 semapv:UnspecifiedMatching DOID:0110974 brachydactyly type A1B skos:exactMatch OMIM:607004 semapv:UnspecifiedMatching @@ -12594,7 +12903,7 @@ DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref GARD:10094 semapv:Unspeci DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref MESH:C537249 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref ORDO:139491 semapv:UnspecifiedMatching -DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref UMLS_CUI:C1853733 semapv:UnspecifiedMatching +DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref UMLS:C1853733 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 skos:exactMatch OMIM:606069 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref GARD:10417 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching @@ -12605,7 +12914,7 @@ DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref GARD:10093 semapv:Unspeci DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref ORDO:225123 semapv:UnspecifiedMatching -DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref UMLS_CUI:C1858664 semapv:UnspecifiedMatching +DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref UMLS:C1858664 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 skos:exactMatch OMIM:604250 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref OMIM:615517 semapv:UnspecifiedMatching @@ -12663,7 +12972,7 @@ DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 semapv:Unspe DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref NCI:C84741 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref ORDO:721 semapv:UnspecifiedMatching -DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref UMLS_CUI:C0272302 semapv:UnspecifiedMatching +DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome skos:exactMatch OMIM:139090 semapv:UnspecifiedMatching DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching @@ -12681,13 +12990,13 @@ DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref ICD10CM:D69.1 DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref NCI:C84741 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching -DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref UMLS_CUI:C0272302 semapv:UnspecifiedMatching +DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 skos:exactMatch OMIM:187900 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref GARD:8345 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref ORDO:220436 semapv:UnspecifiedMatching -DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref UMLS_CUI:C1866423 semapv:UnspecifiedMatching +DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref UMLS:C1866423 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder skos:exactMatch OMIM:601709 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref OMIM:615888 semapv:UnspecifiedMatching @@ -12697,7 +13006,7 @@ DOID:0111052 Scott syndrome oboInOwl:hasDbXref GARD:4777 semapv:UnspecifiedMatch DOID:0111052 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref ORDO:806 semapv:UnspecifiedMatching -DOID:0111052 Scott syndrome oboInOwl:hasDbXref UMLS_CUI:C0796149 semapv:UnspecifiedMatching +DOID:0111052 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome skos:exactMatch OMIM:262890 semapv:UnspecifiedMatching DOID:0111053 platelet-type bleeding disorder 15 oboInOwl:hasDbXref OMIM:615193 semapv:UnspecifiedMatching DOID:0111053 platelet-type bleeding disorder 15 skos:exactMatch OMIM:615193 semapv:UnspecifiedMatching @@ -12706,7 +13015,7 @@ DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref MESH:D056729 semapv:U DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref NCI:C85213 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref ORDO:166096 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref UMLS_CUI:C1264041 semapv:UnspecifiedMatching +DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref UMLS:C1264041 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 skos:exactMatch OMIM:277480 semapv:UnspecifiedMatching DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref OMIM:616913 semapv:UnspecifiedMatching DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref ORDO:466806 semapv:UnspecifiedMatching @@ -12746,7 +13055,7 @@ DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref GARD:10133 sema DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref MESH:C535715 semapv:UnspecifiedMatching DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:139552 semapv:UnspecifiedMatching -DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1854023 semapv:UnspecifiedMatching +DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS:C1854023 semapv:UnspecifiedMatching DOID:0111065 distal spinal muscular atrophy 2 skos:exactMatch OMIM:605726 semapv:UnspecifiedMatching DOID:0111066 congenital bile acid synthesis defect 5 oboInOwl:hasDbXref OMIM:616278 semapv:UnspecifiedMatching DOID:0111066 congenital bile acid synthesis defect 5 skos:exactMatch OMIM:616278 semapv:UnspecifiedMatching @@ -12756,34 +13065,34 @@ DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref GARD:100 DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref ORDO:79095 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref UMLS_CUI:C1858328 semapv:UnspecifiedMatching +DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref UMLS:C1858328 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 skos:exactMatch OMIM:214950 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref GARD:10045 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref MESH:C535443 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref OMIM:235555 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref ORDO:79303 semapv:UnspecifiedMatching -DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref UMLS_CUI:C1856127 semapv:UnspecifiedMatching +DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref UMLS:C1856127 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 skos:exactMatch OMIM:235555 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref OMIM:613812 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref ORDO:79302 semapv:UnspecifiedMatching -DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref UMLS_CUI:C3151147 semapv:UnspecifiedMatching +DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref UMLS:C3151147 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 skos:exactMatch OMIM:613812 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref GARD:9813 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref OMIM:607765 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref ORDO:79301 semapv:UnspecifiedMatching -DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref UMLS_CUI:C1843116 semapv:UnspecifiedMatching +DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref UMLS:C1843116 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 skos:exactMatch OMIM:607765 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref GARD:10238 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref MESH:C536106 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref OMIM:614160 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref ORDO:275534 semapv:UnspecifiedMatching -DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref UMLS_CUI:C2931112 semapv:UnspecifiedMatching +DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref UMLS:C2931112 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy skos:exactMatch OMIM:614160 semapv:UnspecifiedMatching +DOID:0111073 progressive familial heart block oboInOwl:hasDbXref OMIM:115080 semapv:UnspecifiedMatching DOID:0111073 progressive familial heart block oboInOwl:hasDbXref OMIMPS:113900 semapv:UnspecifiedMatching DOID:0111073 progressive familial heart block oboInOwl:hasDbXref ORDO:871 semapv:UnspecifiedMatching -DOID:0111073 progressive familial heart block skos:exactMatch OMIMPS:113900 semapv:UnspecifiedMatching DOID:0111074 progressive familial heart block type IA oboInOwl:hasDbXref OMIM:113900 semapv:UnspecifiedMatching DOID:0111074 progressive familial heart block type IA skos:exactMatch OMIM:113900 semapv:UnspecifiedMatching DOID:0111075 progressive familial heart block type II oboInOwl:hasDbXref MESH:C564202 semapv:UnspecifiedMatching @@ -12800,13 +13109,13 @@ DOID:0111077 pyruvate kinase deficiency of red cells skos:exactMatch OMIM:266200 DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref ORDO:609 semapv:UnspecifiedMatching -DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C1838244 semapv:UnspecifiedMatching +DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1838244 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy skos:exactMatch OMIM:600334 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref GARD:5926 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref MESH:D000080365 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref OMIM:605808 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref ORDO:179 semapv:UnspecifiedMatching -DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref UMLS_CUI:C1853959 semapv:UnspecifiedMatching +DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref UMLS:C1853959 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy skos:exactMatch OMIM:605808 semapv:UnspecifiedMatching DOID:0111080 Fanconi anemia complementation group V oboInOwl:hasDbXref OMIM:617243 semapv:UnspecifiedMatching DOID:0111080 Fanconi anemia complementation group V skos:exactMatch OMIM:617243 semapv:UnspecifiedMatching @@ -12959,7 +13268,7 @@ DOID:0111142 oligomeganephronia oboInOwl:hasDbXref ICD10CM:Q60.4 semapv:Unspecif DOID:0111142 oligomeganephronia oboInOwl:hasDbXref ORDO:2260 semapv:UnspecifiedMatching DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref GARD:1459 semapv:UnspecifiedMatching DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref ORDO:254913 semapv:UnspecifiedMatching -DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref UMLS_CUI:C4757950 semapv:UnspecifiedMatching +DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref UMLS:C4757950 semapv:UnspecifiedMatching DOID:0111144 preterm premature rupture of the membranes oboInOwl:hasDbXref MESH:C563032 semapv:UnspecifiedMatching DOID:0111144 preterm premature rupture of the membranes oboInOwl:hasDbXref OMIM:610504 semapv:UnspecifiedMatching DOID:0111144 preterm premature rupture of the membranes skos:exactMatch OMIM:610504 semapv:UnspecifiedMatching @@ -12967,7 +13276,7 @@ DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref GARD:5573 semap DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10CM:D68.04 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref MEDDRA:10069495 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref ORDO:99147 semapv:UnspecifiedMatching -DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS_CUI:C0272362 semapv:UnspecifiedMatching +DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS:C0272362 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref GARD:11973 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10CM:C86.5 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICDO:9705/3 semapv:UnspecifiedMatching @@ -12975,26 +13284,26 @@ DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MEDDRA:100024 DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MESH:D007119 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref NCI:C7528 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ORDO:86886 semapv:UnspecifiedMatching -DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS_CUI:C0020981 semapv:UnspecifiedMatching +DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS:C0020981 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ICD10CM:Q12.1 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ICD9CM:743.37 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref MESH:C536184 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref MESH:D004479 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref NCI:C125484 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ORDO:1885 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS_CUI:C0013581 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS_CUI:C2746069 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS:C0013581 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS:C2746069 semapv:UnspecifiedMatching DOID:0111149 autosomal recessive isolated ectopia lentis 2 oboInOwl:hasDbXref OMIM:225100 semapv:UnspecifiedMatching DOID:0111149 autosomal recessive isolated ectopia lentis 2 skos:exactMatch OMIM:225100 semapv:UnspecifiedMatching DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref OMIM:129600 semapv:UnspecifiedMatching -DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref UMLS_CUI:C1851286 semapv:UnspecifiedMatching +DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref UMLS:C1851286 semapv:UnspecifiedMatching DOID:0111150 autosomal dominant isolated ectopia lentis 1 skos:exactMatch OMIM:129600 semapv:UnspecifiedMatching DOID:0111151 Prinzmetal angina oboInOwl:hasDbXref MESH:D000788 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref GARD:9644 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref MESH:C537372 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref NCI:C27855 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref ORDO:93686 semapv:UnspecifiedMatching -DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref UMLS_CUI:C1334815 semapv:UnspecifiedMatching +DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref UMLS:C1334815 semapv:UnspecifiedMatching DOID:0111153 congenital mirror movement disorder oboInOwl:hasDbXref ORDO:238722 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref GARD:9597 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref ICD10CM:I95.1 semapv:UnspecifiedMatching @@ -13015,18 +13324,18 @@ DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:C536362 semapv:Unspecifie DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:D005871 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref NCI:C3056 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref ORDO:160 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS_CUI:C0017531 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS_CUI:C2931179 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS:C0017531 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS:C2931179 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref GARD:9443 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref OMIM:616482 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref ORDO:85165 semapv:UnspecifiedMatching -DOID:0111158 SADDAN oboInOwl:hasDbXref UMLS_CUI:C2674173 semapv:UnspecifiedMatching +DOID:0111158 SADDAN oboInOwl:hasDbXref UMLS:C2674173 semapv:UnspecifiedMatching DOID:0111158 SADDAN skos:exactMatch OMIM:616482 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref MESH:C537975 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ORDO:85164 semapv:UnspecifiedMatching -DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS_CUI:C1864852 semapv:UnspecifiedMatching +DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS:C1864852 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch OMIM:610474 semapv:UnspecifiedMatching DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref ORDO:93262 semapv:UnspecifiedMatching @@ -13037,12 +13346,12 @@ DOID:0111162 epidermal nevus skos:exactMatch OMIM:162900 semapv:UnspecifiedMatch DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref MESH:C565373 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref ORDO:308393 semapv:UnspecifiedMatching -DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS_CUI:C1854989 semapv:UnspecifiedMatching +DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS:C1854989 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B skos:exactMatch OMIM:252160 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref MESH:C565372 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref ORDO:308386 semapv:UnspecifiedMatching -DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS_CUI:C1854988 semapv:UnspecifiedMatching +DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS:C1854988 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A skos:exactMatch OMIM:252150 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref GARD:3705 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching @@ -13053,7 +13362,7 @@ DOID:0111165 molybdenum cofactor deficiency skos:exactMatch OMIMPS:252150 semapv DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref MESH:C565374 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref ORDO:308400 semapv:UnspecifiedMatching -DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref UMLS_CUI:C1854990 semapv:UnspecifiedMatching +DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref UMLS:C1854990 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C skos:exactMatch OMIM:615501 semapv:UnspecifiedMatching DOID:0111167 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref GARD:6295 semapv:UnspecifiedMatching DOID:0111167 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:223800 semapv:UnspecifiedMatching @@ -13062,13 +13371,13 @@ DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref GARD:10365 sema DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref MESH:C562657 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref OMIM:612716 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref ORDO:70594 semapv:UnspecifiedMatching -DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268468 semapv:UnspecifiedMatching +DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS:C0268468 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency skos:exactMatch OMIM:612716 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref NCI:C116933 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref OMIM:600348 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref ORDO:99796 semapv:UnspecifiedMatching -DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref UMLS_CUI:C1848201 semapv:UnspecifiedMatching +DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref UMLS:C1848201 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia skos:exactMatch OMIM:600348 semapv:UnspecifiedMatching DOID:0111170 autosomal dominant sensory ataxia 1 oboInOwl:hasDbXref OMIM:608984 semapv:UnspecifiedMatching DOID:0111170 autosomal dominant sensory ataxia 1 skos:exactMatch OMIM:608984 semapv:UnspecifiedMatching @@ -13076,7 +13385,7 @@ DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref GARD:8370 semapv:U DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref MESH:C537004 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref OMIM:220111 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref ORDO:70472 semapv:UnspecifiedMatching -DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref UMLS_CUI:C1857355 semapv:UnspecifiedMatching +DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref UMLS:C1857355 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease skos:exactMatch OMIM:220111 semapv:UnspecifiedMatching DOID:0111181 familial hemiplegic migraine 1 oboInOwl:hasDbXref GARD:2638 semapv:UnspecifiedMatching DOID:0111181 familial hemiplegic migraine 1 oboInOwl:hasDbXref OMIM:141500 semapv:UnspecifiedMatching @@ -13093,22 +13402,22 @@ DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 oboInOwl:hasD DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch OMIM:600462 semapv:UnspecifiedMatching DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 oboInOwl:hasDbXref OMIM:613561 semapv:UnspecifiedMatching DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch OMIM:613561 semapv:UnspecifiedMatching -DOID:0111187 distal muscular dystrophy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 semapv:UnspecifiedMatching -DOID:0111187 distal muscular dystrophy with anterior tibial onset oboInOwl:hasDbXref ORDO:178400 semapv:UnspecifiedMatching -DOID:0111187 distal muscular dystrophy with anterior tibial onset skos:exactMatch OMIM:606768 semapv:UnspecifiedMatching +DOID:0111187 distal myopathy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 semapv:UnspecifiedMatching +DOID:0111187 distal myopathy with anterior tibial onset oboInOwl:hasDbXref ORDO:178400 semapv:UnspecifiedMatching +DOID:0111187 distal myopathy with anterior tibial onset skos:exactMatch OMIM:606768 semapv:UnspecifiedMatching DOID:0111188 myofibrillar myopathy 9 oboInOwl:hasDbXref GARD:12591 semapv:UnspecifiedMatching DOID:0111188 myofibrillar myopathy 9 oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching DOID:0111188 myofibrillar myopathy 9 oboInOwl:hasDbXref ORDO:178464 semapv:UnspecifiedMatching DOID:0111188 myofibrillar myopathy 9 skos:exactMatch OMIM:603689 semapv:UnspecifiedMatching -DOID:0111189 distal muscular dystrophy 3 oboInOwl:hasDbXref OMIM:610099 semapv:UnspecifiedMatching -DOID:0111189 distal muscular dystrophy 3 oboInOwl:hasDbXref ORDO:399086 semapv:UnspecifiedMatching -DOID:0111189 distal muscular dystrophy 3 skos:exactMatch OMIM:610099 semapv:UnspecifiedMatching -DOID:0111190 distal muscular dystrophy 4 oboInOwl:hasDbXref OMIM:614065 semapv:UnspecifiedMatching -DOID:0111190 distal muscular dystrophy 4 oboInOwl:hasDbXref ORDO:63273 semapv:UnspecifiedMatching -DOID:0111190 distal muscular dystrophy 4 skos:exactMatch OMIM:614065 semapv:UnspecifiedMatching -DOID:0111191 distal muscular dystrophy Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching -DOID:0111191 distal muscular dystrophy Tateyama type oboInOwl:hasDbXref ORDO:488650 semapv:UnspecifiedMatching -DOID:0111191 distal muscular dystrophy Tateyama type skos:exactMatch OMIM:614321 semapv:UnspecifiedMatching +DOID:0111189 distal myopathy 3 oboInOwl:hasDbXref OMIM:610099 semapv:UnspecifiedMatching +DOID:0111189 distal myopathy 3 oboInOwl:hasDbXref ORDO:399086 semapv:UnspecifiedMatching +DOID:0111189 distal myopathy 3 skos:exactMatch OMIM:610099 semapv:UnspecifiedMatching +DOID:0111190 distal myopathy 4 oboInOwl:hasDbXref OMIM:614065 semapv:UnspecifiedMatching +DOID:0111190 distal myopathy 4 oboInOwl:hasDbXref ORDO:63273 semapv:UnspecifiedMatching +DOID:0111190 distal myopathy 4 skos:exactMatch OMIM:614065 semapv:UnspecifiedMatching +DOID:0111191 distal myopathy Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching +DOID:0111191 distal myopathy Tateyama type oboInOwl:hasDbXref ORDO:488650 semapv:UnspecifiedMatching +DOID:0111191 distal myopathy Tateyama type skos:exactMatch OMIM:614321 semapv:UnspecifiedMatching DOID:0111192 facioscapulohumeral muscular dystrophy 1 oboInOwl:hasDbXref OMIM:158900 semapv:UnspecifiedMatching DOID:0111192 facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 semapv:UnspecifiedMatching DOID:0111193 facioscapulohumeral muscular dystrophy 2 oboInOwl:hasDbXref OMIM:158901 semapv:UnspecifiedMatching @@ -13121,7 +13430,7 @@ DOID:0111195 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch OMI DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref MESH:C564506 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref OMIM:300489 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref ORDO:139557 semapv:UnspecifiedMatching -DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref UMLS_CUI:C1845359 semapv:UnspecifiedMatching +DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref UMLS:C1845359 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 skos:exactMatch OMIM:300489 semapv:UnspecifiedMatching DOID:0111197 autosomal recessive distal hereditary motor neuronopathy oboInOwl:hasDbXref ORDO:140468 semapv:UnspecifiedMatching DOID:0111198 autosomal dominant distal hereditary motor neuronopathy oboInOwl:hasDbXref ORDO:140465 semapv:UnspecifiedMatching @@ -13130,7 +13439,7 @@ DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref MESH DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref NCI:C132826 semapv:UnspecifiedMatching DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref OMIM:182960 semapv:UnspecifiedMatching DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref ORDO:139518 semapv:UnspecifiedMatching -DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref UMLS_CUI:C1866784 semapv:UnspecifiedMatching +DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref UMLS:C1866784 semapv:UnspecifiedMatching DOID:0111200 distal hereditary motor neuronopathy type 1 skos:exactMatch OMIM:182960 semapv:UnspecifiedMatching DOID:0111201 distal hereditary motor neuronopathy type 7A oboInOwl:hasDbXref OMIM:158580 semapv:UnspecifiedMatching DOID:0111201 distal hereditary motor neuronopathy type 7A skos:exactMatch OMIM:158580 semapv:UnspecifiedMatching @@ -13139,15 +13448,15 @@ DOID:0111202 distal hereditary motor neuronopathy type 7B skos:exactMatch OMIM:6 DOID:0111203 distal hereditary motor neuronopathy type 5 oboInOwl:hasDbXref ORDO:139536 semapv:UnspecifiedMatching DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref MESH:C563443 semapv:UnspecifiedMatching DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref OMIM:600794 semapv:UnspecifiedMatching -DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref UMLS_CUI:C1833308 semapv:UnspecifiedMatching +DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref UMLS:C1833308 semapv:UnspecifiedMatching DOID:0111204 distal hereditary motor neuronopathy type 5A skos:exactMatch OMIM:600794 semapv:UnspecifiedMatching DOID:0111205 distal hereditary motor neuronopathy type 5B oboInOwl:hasDbXref OMIM:614751 semapv:UnspecifiedMatching DOID:0111205 distal hereditary motor neuronopathy type 5B skos:exactMatch OMIM:614751 semapv:UnspecifiedMatching DOID:0111206 distal hereditary motor neuronopathy type 2 oboInOwl:hasDbXref MESH:C580044 semapv:UnspecifiedMatching DOID:0111206 distal hereditary motor neuronopathy type 2 oboInOwl:hasDbXref ORDO:139525 semapv:UnspecifiedMatching -DOID:0111206 distal hereditary motor neuronopathy type 2 oboInOwl:hasDbXref UMLS_CUI:C3711384 semapv:UnspecifiedMatching -DOID:0111207 distal hereditary motor neuropathy type 2B oboInOwl:hasDbXref OMIM:608634 semapv:UnspecifiedMatching -DOID:0111207 distal hereditary motor neuropathy type 2B skos:exactMatch OMIM:608634 semapv:UnspecifiedMatching +DOID:0111206 distal hereditary motor neuronopathy type 2 oboInOwl:hasDbXref UMLS:C3711384 semapv:UnspecifiedMatching +DOID:0111207 distal hereditary motor neuronopathy type 2B oboInOwl:hasDbXref OMIM:608634 semapv:UnspecifiedMatching +DOID:0111207 distal hereditary motor neuronopathy type 2B skos:exactMatch OMIM:608634 semapv:UnspecifiedMatching DOID:0111208 distal hereditary motor neuronopathy type 2A oboInOwl:hasDbXref OMIM:158590 semapv:UnspecifiedMatching DOID:0111208 distal hereditary motor neuronopathy type 2A skos:exactMatch OMIM:158590 semapv:UnspecifiedMatching DOID:0111209 distal hereditary motor neuronopathy type 2C oboInOwl:hasDbXref OMIM:613376 semapv:UnspecifiedMatching @@ -13157,14 +13466,14 @@ DOID:0111210 distal hereditary motor neuronopathy type 2D skos:exactMatch OMIM:6 DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref MESH:C564626 semapv:UnspecifiedMatching DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:607088 semapv:UnspecifiedMatching DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ORDO:139547 semapv:UnspecifiedMatching -DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS_CUI:C1846823 semapv:UnspecifiedMatching +DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1846823 semapv:UnspecifiedMatching DOID:0111211 distal spinal muscular atrophy type 3 skos:exactMatch OMIM:607088 semapv:UnspecifiedMatching DOID:0111212 distal hereditary motor neuronopathy type 9 oboInOwl:hasDbXref OMIM:617721 semapv:UnspecifiedMatching DOID:0111212 distal hereditary motor neuronopathy type 9 skos:exactMatch OMIM:617721 semapv:UnspecifiedMatching DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref MESH:C567023 semapv:UnspecifiedMatching DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref ORDO:206580 semapv:UnspecifiedMatching -DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS_CUI:C1970211 semapv:UnspecifiedMatching +DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS:C1970211 semapv:UnspecifiedMatching DOID:0111213 distal spinal muscular atrophy type 4 skos:exactMatch OMIM:611067 semapv:UnspecifiedMatching DOID:0111214 distal spinal muscular atrophy type 5 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching DOID:0111214 distal spinal muscular atrophy type 5 oboInOwl:hasDbXref ORDO:314485 semapv:UnspecifiedMatching @@ -13177,7 +13486,7 @@ DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref GARD:1 DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ICD10CM:G71.228 semapv:UnspecifiedMatching DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ORDO:169189 semapv:UnspecifiedMatching -DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS_CUI:C1834558 semapv:UnspecifiedMatching +DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS:C1834558 semapv:UnspecifiedMatching DOID:0111218 Friedreich ataxia 1 oboInOwl:hasDbXref MESH:C565561 semapv:UnspecifiedMatching DOID:0111218 Friedreich ataxia 1 oboInOwl:hasDbXref OMIM:229300 semapv:UnspecifiedMatching DOID:0111218 Friedreich ataxia 1 skos:exactMatch OMIM:229300 semapv:UnspecifiedMatching @@ -13186,7 +13495,7 @@ DOID:0111219 Friedreich ataxia 2 oboInOwl:hasDbXref OMIM:601992 semapv:Unspecifi DOID:0111219 Friedreich ataxia 2 skos:exactMatch OMIM:601992 semapv:UnspecifiedMatching DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref MESH:C562934 semapv:UnspecifiedMatching DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching -DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref UMLS_CUI:C0410204 semapv:UnspecifiedMatching +DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref UMLS:C0410204 semapv:UnspecifiedMatching DOID:0111220 centronuclear myopathy 2 skos:exactMatch OMIM:255200 semapv:UnspecifiedMatching DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion oboInOwl:hasDbXref OMIM:617760 semapv:UnspecifiedMatching DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion skos:exactMatch OMIM:617760 semapv:UnspecifiedMatching @@ -13202,7 +13511,7 @@ DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref MESH:D020914 sem DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref NCI:C118781 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref ORDO:596 semapv:UnspecifiedMatching -DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref UMLS_CUI:C0410203 semapv:UnspecifiedMatching +DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref UMLS:C0410203 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked skos:exactMatch OMIM:310400 semapv:UnspecifiedMatching DOID:0111226 X-linked congenital myopathy with fiber-type disproportion oboInOwl:hasDbXref OMIM:300580 semapv:UnspecifiedMatching DOID:0111226 X-linked congenital myopathy with fiber-type disproportion skos:exactMatch OMIM:300580 semapv:UnspecifiedMatching @@ -13212,7 +13521,7 @@ DOID:0111227 chromosome 3-linked frontotemporal dementia skos:exactMatch OMIM:60 DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref MESH:C566236 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref ORDO:86813 semapv:UnspecifiedMatching -DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref UMLS_CUI:C1862382 semapv:UnspecifiedMatching +DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1862382 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy skos:exactMatch OMIM:108985 semapv:UnspecifiedMatching DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A oboInOwl:hasDbXref OMIMPS:236670 semapv:UnspecifiedMatching DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A oboInOwl:hasDbXref ORDO:352687 semapv:UnspecifiedMatching @@ -13247,42 +13556,42 @@ DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref GARD:7 semapv:UnspecifiedMa DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref MESH:C535662 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref OMIM:102370 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref ORDO:969 semapv:UnspecifiedMatching -DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref UMLS_CUI:C0265287 semapv:UnspecifiedMatching +DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref UMLS:C0265287 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia skos:exactMatch OMIM:102370 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref GARD:604 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref MESH:C537050 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref OMIM:104100 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref ORDO:1010 semapv:UnspecifiedMatching -DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref UMLS_CUI:C1863093 semapv:UnspecifiedMatching +DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref UMLS:C1863093 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch OMIM:104100 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref MESH:C535336 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref OMIM:212360 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref ORDO:1366 semapv:UnspecifiedMatching -DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref UMLS_CUI:C1859316 semapv:UnspecifiedMatching +DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref UMLS:C1859316 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 skos:exactMatch OMIM:212360 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref GARD:9239 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref ORDO:90020 semapv:UnspecifiedMatching -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref UMLS_CUI:C0543859 semapv:UnspecifiedMatching +DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref UMLS:C0543859 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 skos:exactMatch OMIM:105500 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref GARD:967 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref MESH:C537095 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref OMIM:112410 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref ORDO:1276 semapv:UnspecifiedMatching -DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref UMLS_CUI:C1862170 semapv:UnspecifiedMatching +DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1862170 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome skos:exactMatch OMIM:112410 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref GARD:6026 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref MESH:C562538 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref OMIM:117650 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref ORDO:1393 semapv:UnspecifiedMatching -DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS_CUI:C0265342 semapv:UnspecifiedMatching +DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS:C0265342 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome skos:exactMatch OMIM:117650 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref GARD:1440 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref MESH:C535971 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref OMIM:120433 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ORDO:1473 semapv:UnspecifiedMatching -DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS_CUI:C0795902 semapv:UnspecifiedMatching +DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS:C0795902 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch OMIM:120433 semapv:UnspecifiedMatching DOID:0111250 Parkinson's disease 3 oboInOwl:hasDbXref OMIM:602404 semapv:UnspecifiedMatching DOID:0111250 Parkinson's disease 3 skos:exactMatch OMIM:602404 semapv:UnspecifiedMatching @@ -13295,7 +13604,7 @@ DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref MESH:D016518 semapv:U DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref NCI:C3274 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref ORDO:637 semapv:UnspecifiedMatching -DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref UMLS_CUI:C0027832 semapv:UnspecifiedMatching +DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref UMLS:C0027832 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch GARD:7193 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch ICD10CM:Q85.02 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch ICD9CM:237.72 semapv:UnspecifiedMatching @@ -13304,7 +13613,8 @@ DOID:0111252 vestibular schwannomatosis skos:exactMatch NCI:C3274 semapv:Unspeci DOID:0111252 vestibular schwannomatosis skos:exactMatch OMIM:101000 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch OMIM:101000 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch ORDO:637 semapv:UnspecifiedMatching -DOID:0111252 vestibular schwannomatosis skos:exactMatch UMLS_CUI:C0027832 semapv:UnspecifiedMatching +DOID:0111252 vestibular schwannomatosis skos:exactMatch SNOMEDCT_US_2020_03_01:92503002 semapv:UnspecifiedMatching +DOID:0111252 vestibular schwannomatosis skos:exactMatch UMLS:C0027832 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:narrowMatch ORDO:634475 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD10CM:Q85.01 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD9CM:237.71 semapv:UnspecifiedMatching @@ -13312,7 +13622,7 @@ DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref MESH:D009456 semapv:Unspecif DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref NCI:C3273 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ORDO:636 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref UMLS_CUI:C0027831 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref UMLS:C0027831 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch ICD10CM:Q85.01 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch ICD9CM:237.71 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch MESH:D009456 semapv:UnspecifiedMatching @@ -13320,7 +13630,8 @@ DOID:0111253 neurofibromatosis 1 skos:exactMatch NCI:C3273 semapv:UnspecifiedMat DOID:0111253 neurofibromatosis 1 skos:exactMatch OMIM:162200 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch OMIM:162200 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch ORDO:636 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 skos:exactMatch UMLS_CUI:C0027831 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 skos:exactMatch SNOMEDCT_US_2020_03_01:92824003 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref GARD:6522 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref MESH:C536833 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref OMIM:231670 semapv:UnspecifiedMatching @@ -13331,19 +13642,19 @@ DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MEDDRA:10052312 semapv DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref ORDO:2473 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS_CUI:C0948368 semapv:UnspecifiedMatching +DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS:C0948368 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome skos:exactMatch OMIM:236700 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref GARD:2806 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ORDO:163 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS_CUI:C1833213 semapv:UnspecifiedMatching +DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS:C1833213 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome skos:exactMatch OMIM:600886 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref GARD:10099 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref MESH:C536836 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM:231950 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ORDO:33573 semapv:UnspecifiedMatching -DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268524 semapv:UnspecifiedMatching +DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS:C0268524 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency skos:exactMatch OMIM:231950 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref GARD:418 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref ICD10CM:E74.89 semapv:UnspecifiedMatching @@ -13351,25 +13662,25 @@ DOID:0111258 pentosuria oboInOwl:hasDbXref MEDDRA:10064170 semapv:UnspecifiedMat DOID:0111258 pentosuria oboInOwl:hasDbXref MESH:C536652 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref OMIM:260800 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref ORDO:2843 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref UMLS_CUI:C0268162 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref UMLS:C0268162 semapv:UnspecifiedMatching DOID:0111258 pentosuria skos:exactMatch OMIM:260800 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref GARD:8410 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref MESH:C537680 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref OMIM:263750 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref ORDO:246 semapv:UnspecifiedMatching -DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C0265257 semapv:UnspecifiedMatching +DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS:C0265257 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis skos:exactMatch OMIM:263750 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref MESH:C567064 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ORDO:3222 semapv:UnspecifiedMatching -DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS_CUI:C1970827 semapv:UnspecifiedMatching +DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C1970827 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch OMIM:300661 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref GARD:6476 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref OMIM:606812 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref ORDO:24 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342770 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS_CUI:C2936826 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS:C0342770 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS:C2936826 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency skos:exactMatch OMIM:606812 semapv:UnspecifiedMatching DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref GARD:10995 semapv:UnspecifiedMatching DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref OMIM:613668 semapv:UnspecifiedMatching @@ -13379,7 +13690,7 @@ DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref GARD DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref MESH:C580002 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref OMIM:614265 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ORDO:289504 semapv:UnspecifiedMatching -DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS_CUI:C3280314 semapv:UnspecifiedMatching +DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS:C3280314 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia skos:exactMatch OMIM:614265 semapv:UnspecifiedMatching DOID:0111264 Ruijs-Aalfs syndrome oboInOwl:hasDbXref OMIM:616200 semapv:UnspecifiedMatching DOID:0111264 Ruijs-Aalfs syndrome oboInOwl:hasDbXref ORDO:435953 semapv:UnspecifiedMatching @@ -13388,13 +13699,13 @@ DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref GARD:944 semapv:Unspe DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref MESH:C565850 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref OMIM:215470 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref ORDO:1180 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref UMLS_CUI:C1859093 semapv:UnspecifiedMatching +DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref UMLS:C1859093 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome skos:exactMatch OMIM:215470 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref GARD:413 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref ORDO:2078 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref UMLS_CUI:C0432255 semapv:UnspecifiedMatching +DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref UMLS:C0432255 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum skos:exactMatch OMIM:231070 semapv:UnspecifiedMatching DOID:0111267 hyaline body myopathy oboInOwl:hasDbXref GARD:7148 semapv:UnspecifiedMatching DOID:0111267 hyaline body myopathy oboInOwl:hasDbXref ORDO:53698 semapv:UnspecifiedMatching @@ -13407,34 +13718,34 @@ DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10CM:E72. DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref MESH:C538141 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ORDO:99731 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268624 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C2931746 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS:C0268624 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS:C2931746 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency skos:exactMatch OMIM:272300 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref GARD:5266 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref MESH:C536554 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref ORDO:3363 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref UMLS_CUI:C1848745 semapv:UnspecifiedMatching +DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref UMLS:C1848745 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome skos:exactMatch OMIM:275400 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref GARD:4017 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref ORDO:198 semapv:UnspecifiedMatching -DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref UMLS_CUI:C0268353 semapv:UnspecifiedMatching +DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref UMLS:C0268353 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome skos:exactMatch OMIM:304150 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref GARD:262 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref MEDDRA:10062940 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref MESH:C537396 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref ORDO:644 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome oboInOwl:hasDbXref UMLS_CUI:C1328349 semapv:UnspecifiedMatching +DOID:0111273 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome skos:exactMatch OMIM:551500 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref GARD:1418 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref MESH:C536434 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref NCI:C126744 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref OMIM:600373 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref ORDO:1458 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref UMLS_CUI:C1838180 semapv:UnspecifiedMatching +DOID:0111274 CODAS syndrome oboInOwl:hasDbXref UMLS:C1838180 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome skos:exactMatch OMIM:600373 semapv:UnspecifiedMatching DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref GARD:12889 semapv:UnspecifiedMatching DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching @@ -13443,14 +13754,14 @@ DOID:0111275 speech-language disorder-1 skos:exactMatch OMIM:602081 semapv:Unspe DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref MESH:C537583 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref ORDO:70595 semapv:UnspecifiedMatching -DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref UMLS_CUI:C1843851 semapv:UnspecifiedMatching +DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref UMLS:C1843851 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:607459 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref GARD:3684 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:C566945 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref NCI:C98991 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ORDO:746 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS_CUI:C1969443 semapv:UnspecifiedMatching +DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency skos:exactMatch OMIM:609015 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref GARD:7588 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref ICDO:9749/3 semapv:UnspecifiedMatching @@ -13562,7 +13873,7 @@ DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref GAR DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref MESH:C566449 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref ORDO:79096 semapv:UnspecifiedMatching -DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C1864723 semapv:UnspecifiedMatching +DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref UMLS:C1864723 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency skos:exactMatch OMIM:610090 semapv:UnspecifiedMatching DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref MESH:C567125 semapv:UnspecifiedMatching DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching @@ -13589,14 +13900,14 @@ DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref GARD:1571 se DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref OMIM:122880 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ORDO:1529 semapv:UnspecifiedMatching -DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS_CUI:C1852510 semapv:UnspecifiedMatching +DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS:C1852510 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome skos:exactMatch OMIM:122880 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref GARD:6796 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref MESH:C537559 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref NCI:C123814 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref OMIM:123150 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref ORDO:1540 semapv:UnspecifiedMatching -DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS_CUI:C0795998 semapv:UnspecifiedMatching +DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS:C0795998 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome skos:exactMatch OMIM:123150 semapv:UnspecifiedMatching DOID:0111338 isolated elevated serum creatine phosphokinase levels oboInOwl:hasDbXref OMIM:123320 semapv:UnspecifiedMatching DOID:0111338 isolated elevated serum creatine phosphokinase levels skos:exactMatch OMIM:123320 semapv:UnspecifiedMatching @@ -13604,28 +13915,28 @@ DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref MESH:C536457 semapv:Unspecifi DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref OMIM:124500 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:3092 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:494 semapv:UnspecifiedMatching -DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref UMLS_CUI:C0265964 semapv:UnspecifiedMatching +DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref UMLS:C0265964 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome skos:exactMatch OMIM:124500 semapv:UnspecifiedMatching DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref GARD:5243 semapv:UnspecifiedMatching DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching -DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS_CUI:C3276549 semapv:UnspecifiedMatching +DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS:C3276549 semapv:UnspecifiedMatching DOID:0111340 dominant optic atrophy plus syndrome skos:exactMatch OMIM:125250 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref MESH:C565114 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref ORDO:412206 semapv:UnspecifiedMatching -DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref UMLS_CUI:C1852222 semapv:UnspecifiedMatching +DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref UMLS:C1852222 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption skos:exactMatch OMIM:125350 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref GARD:8550 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C535374 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ORDO:86920 semapv:UnspecifiedMatching -DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS_CUI:C0406778 semapv:UnspecifiedMatching +DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS:C0406778 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis skos:exactMatch OMIM:125595 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref GARD:9873 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref MESH:C537878 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref ORDO:2789 semapv:UnspecifiedMatching -DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref UMLS_CUI:C1851710 semapv:UnspecifiedMatching +DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref UMLS:C1851710 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome skos:exactMatch OMIM:130720 semapv:UnspecifiedMatching DOID:0111344 myeloproliferative disorder with eosinophilia oboInOwl:hasDbXref OMIM:131440 semapv:UnspecifiedMatching DOID:0111344 myeloproliferative disorder with eosinophilia skos:exactMatch OMIM:131440 semapv:UnspecifiedMatching @@ -13633,13 +13944,13 @@ DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref GARD DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref MESH:C536979 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref OMIM:131705 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref ORDO:79411 semapv:UnspecifiedMatching -DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref UMLS_CUI:C1851573 semapv:UnspecifiedMatching +DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref UMLS:C1851573 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn skos:exactMatch OMIM:131705 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref GARD:9737 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MESH:C535959 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref OMIM:131960 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ORDO:79397 semapv:UnspecifiedMatching -DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS_CUI:C0432316 semapv:UnspecifiedMatching +DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS:C0432316 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch OMIM:131960 semapv:UnspecifiedMatching DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails oboInOwl:hasDbXref MESH:C562638 semapv:UnspecifiedMatching DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails oboInOwl:hasDbXref OMIM:132000 semapv:UnspecifiedMatching @@ -13647,17 +13958,17 @@ DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref MESH:C565046 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref OMIM:132450 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref ORDO:166011 semapv:UnspecifiedMatching -DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref UMLS_CUI:C1851536 semapv:UnspecifiedMatching +DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref UMLS:C1851536 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness skos:exactMatch OMIM:132450 semapv:UnspecifiedMatching DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref MESH:C535944 semapv:UnspecifiedMatching DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref OMIM:135290 semapv:UnspecifiedMatching -DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref UMLS_CUI:C1851124 semapv:UnspecifiedMatching +DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref UMLS:C1851124 semapv:UnspecifiedMatching DOID:0111349 hereditary desmoid disease skos:exactMatch OMIM:135290 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref GARD:155 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref MESH:C535689 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref OMIM:135750 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref ORDO:2378 semapv:UnspecifiedMatching -DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref UMLS_CUI:C1851100 semapv:UnspecifiedMatching +DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref UMLS:C1851100 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome skos:exactMatch OMIM:135750 semapv:UnspecifiedMatching DOID:0111351 D-2-hydroxyglutaric aciduria 1 oboInOwl:hasDbXref OMIM:600721 semapv:UnspecifiedMatching DOID:0111351 D-2-hydroxyglutaric aciduria 1 skos:exactMatch OMIM:600721 semapv:UnspecifiedMatching @@ -13681,7 +13992,7 @@ DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref MESH:C537062 semapv:Uns DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref NCI:C175241 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref OMIM:136140 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref ORDO:2044 semapv:UnspecifiedMatching -DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS_CUI:C0729582 semapv:UnspecifiedMatching +DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS:C0729582 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome skos:exactMatch OMIM:136140 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref GARD:2469 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref MEDDRA:10072036 semapv:UnspecifiedMatching @@ -13690,8 +14001,8 @@ DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C3944 sem DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C4234 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref ORDO:626 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1318558 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1842036 semapv:UnspecifiedMatching +DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1318558 semapv:UnspecifiedMatching +DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1842036 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus skos:exactMatch OMIM:137550 semapv:UnspecifiedMatching DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:137940 semapv:UnspecifiedMatching DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch OMIM:137940 semapv:UnspecifiedMatching @@ -13702,7 +14013,7 @@ DOID:0111362 hawkinsinuria oboInOwl:hasDbXref GARD:5668 semapv:UnspecifiedMatchi DOID:0111362 hawkinsinuria oboInOwl:hasDbXref MESH:C535845 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref OMIM:140350 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref ORDO:2118 semapv:UnspecifiedMatching -DOID:0111362 hawkinsinuria oboInOwl:hasDbXref UMLS_CUI:C2931042 semapv:UnspecifiedMatching +DOID:0111362 hawkinsinuria oboInOwl:hasDbXref UMLS:C2931042 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria skos:exactMatch OMIM:140350 semapv:UnspecifiedMatching DOID:0111363 Heinz body anemia oboInOwl:hasDbXref GARD:10718 semapv:UnspecifiedMatching DOID:0111363 Heinz body anemia oboInOwl:hasDbXref OMIM:140700 semapv:UnspecifiedMatching @@ -13717,34 +14028,34 @@ DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref GARD:2690 semapv:Unspecifie DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref ORDO:2114 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref UMLS_CUI:C1840572 semapv:UnspecifiedMatching +DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref UMLS:C1840572 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia skos:exactMatch OMIM:142669 semapv:UnspecifiedMatching DOID:0111368 cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ORDO:79506 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref MESH:C564591 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref NCI:C128806 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref OMIM:143470 semapv:UnspecifiedMatching -DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref UMLS_CUI:C0342883 semapv:UnspecifiedMatching +DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref UMLS:C0342883 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 skos:exactMatch OMIM:143470 semapv:UnspecifiedMatching DOID:0111370 apolipoprotein C-III deficiency oboInOwl:hasDbXref MESH:C566270 semapv:UnspecifiedMatching DOID:0111370 apolipoprotein C-III deficiency oboInOwl:hasDbXref OMIM:614028 semapv:UnspecifiedMatching DOID:0111370 apolipoprotein C-III deficiency skos:exactMatch OMIM:614028 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref ORDO:542657 semapv:UnspecifiedMatching -DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref UMLS_CUI:C1840437 semapv:UnspecifiedMatching +DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref UMLS:C1840437 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis skos:exactMatch OMIM:143860 semapv:UnspecifiedMatching DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation skos:exactMatch OMIM:145250 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref MESH:C564154 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref ORDO:165994 semapv:UnspecifiedMatching -DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref UMLS_CUI:C1840364 semapv:UnspecifiedMatching +DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref UMLS:C1840364 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance skos:exactMatch OMIM:145650 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref GARD:9634 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref MESH:C536647 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref NCI:C129071 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref OMIMPS:208150 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref ORDO:994 semapv:UnspecifiedMatching -DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref UMLS_CUI:C1276035 semapv:UnspecifiedMatching +DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref UMLS:C1276035 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome skos:exactMatch OMIMPS:208150 semapv:UnspecifiedMatching DOID:0111376 fetal akinesia deformation sequence syndrome 3 oboInOwl:hasDbXref OMIM:618389 semapv:UnspecifiedMatching DOID:0111376 fetal akinesia deformation sequence syndrome 3 skos:exactMatch OMIM:618389 semapv:UnspecifiedMatching @@ -13761,21 +14072,21 @@ DOID:0111381 IVIC syndrome oboInOwl:hasDbXref GARD:269 semapv:UnspecifiedMatchin DOID:0111381 IVIC syndrome oboInOwl:hasDbXref MESH:C535544 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref ORDO:2307 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome oboInOwl:hasDbXref UMLS_CUI:C1327918 semapv:UnspecifiedMatching +DOID:0111381 IVIC syndrome oboInOwl:hasDbXref UMLS:C1327918 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome skos:exactMatch OMIM:147750 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref GARD:3030 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref MESH:C535540 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref MESH:C536307 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref ORDO:1509 semapv:UnspecifiedMatching -DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS_CUI:C1840061 semapv:UnspecifiedMatching -DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS_CUI:C1868581 semapv:UnspecifiedMatching +DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1840061 semapv:UnspecifiedMatching +DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1868581 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome skos:exactMatch OMIM:147891 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref GARD:3089 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref ORDO:2334 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref UMLS_CUI:C1835698 semapv:UnspecifiedMatching +DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref UMLS:C1835698 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis skos:exactMatch OMIM:148190 semapv:UnspecifiedMatching DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 oboInOwl:hasDbXref OMIM:615422 semapv:UnspecifiedMatching DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 skos:exactMatch OMIM:615422 semapv:UnspecifiedMatching @@ -13793,7 +14104,7 @@ DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref MESH:D008059 semapv:U DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref NCI:C122782 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref ORDO:93476 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref UMLS_CUI:C0086431 semapv:UnspecifiedMatching +DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref UMLS:C0086431 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s skos:exactMatch OMIM:607015 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref GARD:12559 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ICD10CM:E76.01 semapv:UnspecifiedMatching @@ -13801,7 +14112,7 @@ DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref MESH:D008059 semapv:Uns DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref NCI:C61261 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ORDO:93473 semapv:UnspecifiedMatching -DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref UMLS_CUI:C0086795 semapv:UnspecifiedMatching +DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref UMLS:C0086795 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih skos:exactMatch OMIM:607014 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref GARD:3785 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ICD10CM:E76.210 semapv:UnspecifiedMatching @@ -13809,14 +14120,14 @@ DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref MESH:D009085 semapv:Un DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref NCI:C84901 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ORDO:309297 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref UMLS_CUI:C0086651 semapv:UnspecifiedMatching +DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref UMLS:C0086651 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA skos:exactMatch OMIM:253000 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ICD10CM:E76.211 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref NCI:C84902 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ORDO:309310 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref UMLS_CUI:C0086652 semapv:UnspecifiedMatching +DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref UMLS:C0086652 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB skos:exactMatch OMIM:253010 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref GARD:7073 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching @@ -13824,7 +14135,7 @@ DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref MESH:D009084 sem DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref NCI:C84899 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ORDO:79271 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref UMLS_CUI:C0086649 semapv:UnspecifiedMatching +DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref UMLS:C0086649 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC skos:exactMatch OMIM:252930 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref GARD:7072 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching @@ -13832,20 +14143,20 @@ DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref MESH:D009084 sem DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref NCI:C84898 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ORDO:79270 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref UMLS_CUI:C0086648 semapv:UnspecifiedMatching +DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref UMLS:C0086648 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB skos:exactMatch OMIM:252920 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref NCI:C84897 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref ORDO:79269 semapv:UnspecifiedMatching -DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref UMLS_CUI:C0086647 semapv:UnspecifiedMatching +DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref UMLS:C0086647 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA skos:exactMatch OMIM:252900 semapv:UnspecifiedMatching DOID:0111396 congenital dyserythropoietic anemia type I oboInOwl:hasDbXref GARD:2000 semapv:UnspecifiedMatching DOID:0111396 congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ORDO:98869 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching -DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref UMLS_CUI:C0271933 semapv:UnspecifiedMatching +DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref UMLS:C0271933 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib skos:exactMatch OMIM:615631 semapv:UnspecifiedMatching DOID:0111398 congenital dyserythropoietic anemia type Ia oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching DOID:0111398 congenital dyserythropoietic anemia type Ia skos:exactMatch OMIM:224120 semapv:UnspecifiedMatching @@ -13853,19 +14164,19 @@ DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref GAR DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ORDO:98870 semapv:UnspecifiedMatching -DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS_CUI:C0271934 semapv:UnspecifiedMatching +DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS:C0271934 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III skos:exactMatch OMIM:105600 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref NCI:C157148 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ORDO:293825 semapv:UnspecifiedMatching -DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS_CUI:C3150926 semapv:UnspecifiedMatching +DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS:C3150926 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV skos:exactMatch OMIM:613673 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref GARD:2001 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref NCI:C175991 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ORDO:98873 semapv:UnspecifiedMatching -DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS_CUI:C1306589 semapv:UnspecifiedMatching +DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS:C1306589 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II skos:exactMatch OMIM:224100 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref GARD:7074 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching @@ -13873,7 +14184,7 @@ DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref MESH:D009084 sem DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref NCI:C84900 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ORDO:79272 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref UMLS_CUI:C0086650 semapv:UnspecifiedMatching +DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref UMLS:C0086650 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID skos:exactMatch OMIM:252940 semapv:UnspecifiedMatching DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations oboInOwl:hasDbXref OMIM:618273 semapv:UnspecifiedMatching DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch OMIM:618273 semapv:UnspecifiedMatching @@ -13881,7 +14192,7 @@ DOID:0111404 Jalili syndrome oboInOwl:hasDbXref GARD:1463 semapv:UnspecifiedMatc DOID:0111404 Jalili syndrome oboInOwl:hasDbXref MESH:C000596385 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref OMIM:217080 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref ORDO:1873 semapv:UnspecifiedMatching -DOID:0111404 Jalili syndrome oboInOwl:hasDbXref UMLS_CUI:C3495589 semapv:UnspecifiedMatching +DOID:0111404 Jalili syndrome oboInOwl:hasDbXref UMLS:C3495589 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome skos:exactMatch OMIM:217080 semapv:UnspecifiedMatching DOID:0111405 Fraser syndrome 1 oboInOwl:hasDbXref OMIM:219000 semapv:UnspecifiedMatching DOID:0111405 Fraser syndrome 1 skos:exactMatch OMIM:219000 semapv:UnspecifiedMatching @@ -13909,7 +14220,7 @@ DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref GARD:5258 semapv:Un DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref MESH:C565627 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref OMIMPS:222470 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref ORDO:84064 semapv:UnspecifiedMatching -DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref UMLS_CUI:C1857276 semapv:UnspecifiedMatching +DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref UMLS:C1857276 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome skos:exactMatch OMIMPS:222470 semapv:UnspecifiedMatching DOID:0111415 trichohepatoenteric syndrome 1 oboInOwl:hasDbXref OMIM:222470 semapv:UnspecifiedMatching DOID:0111415 trichohepatoenteric syndrome 1 skos:exactMatch OMIM:222470 semapv:UnspecifiedMatching @@ -13919,8 +14230,8 @@ DOID:0111417 familial chylomicronemia syndrome oboInOwl:hasDbXref ORDO:444490 se DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref MESH:D008072 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ORDO:309020 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS_CUI:C0268199 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS_CUI:C1720779 semapv:UnspecifiedMatching +DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C0268199 semapv:UnspecifiedMatching +DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C1720779 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency skos:exactMatch OMIM:207750 semapv:UnspecifiedMatching DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity oboInOwl:hasDbXref OMIM:118830 semapv:UnspecifiedMatching DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity skos:exactMatch OMIM:118830 semapv:UnspecifiedMatching @@ -13957,7 +14268,7 @@ DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref GARD:10203 semapv:UnspecifiedMat DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref MESH:C537128 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref OMIM:165300 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref ORDO:67036 semapv:UnspecifiedMatching -DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref UMLS_CUI:C1833809 semapv:UnspecifiedMatching +DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref UMLS:C1833809 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 skos:exactMatch OMIM:165300 semapv:UnspecifiedMatching DOID:0111434 optic atrophy 10 oboInOwl:hasDbXref OMIM:616732 semapv:UnspecifiedMatching DOID:0111434 optic atrophy 10 skos:exactMatch OMIM:616732 semapv:UnspecifiedMatching @@ -13986,7 +14297,7 @@ DOID:0111443 optic atrophy 2 skos:exactMatch OMIM:311050 semapv:UnspecifiedMatch DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref OMIM:254900 semapv:UnspecifiedMatching DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref ORDO:163696 semapv:UnspecifiedMatching -DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref UMLS_CUI:C0751779 semapv:UnspecifiedMatching +DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref UMLS:C0751779 semapv:UnspecifiedMatching DOID:0111444 progressive myoclonus epilepsy 4 skos:exactMatch OMIM:254900 semapv:UnspecifiedMatching DOID:0111445 progressive myoclonus epilepsy 10 oboInOwl:hasDbXref OMIM:616640 semapv:UnspecifiedMatching DOID:0111445 progressive myoclonus epilepsy 10 oboInOwl:hasDbXref ORDO:324290 semapv:UnspecifiedMatching @@ -13995,12 +14306,12 @@ DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref GARD:2167 semap DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref MESH:C567095 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref ORDO:263516 semapv:UnspecifiedMatching -DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref UMLS_CUI:C2673257 semapv:UnspecifiedMatching +DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref UMLS:C2673257 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 skos:exactMatch OMIM:611726 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref NCI:C142804 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref OMIM:616187 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref ORDO:435438 semapv:UnspecifiedMatching -DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref UMLS_CUI:C4015420 semapv:UnspecifiedMatching +DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref UMLS:C4015420 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 skos:exactMatch OMIM:616187 semapv:UnspecifiedMatching DOID:0111448 progressive myoclonus epilepsy 1B oboInOwl:hasDbXref OMIM:612437 semapv:UnspecifiedMatching DOID:0111448 progressive myoclonus epilepsy 1B skos:exactMatch OMIM:612437 semapv:UnspecifiedMatching @@ -14023,19 +14334,19 @@ DOID:0111454 SHORT syndrome oboInOwl:hasDbXref GARD:7633 semapv:UnspecifiedMatch DOID:0111454 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref OMIM:269880 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref ORDO:3163 semapv:UnspecifiedMatching -DOID:0111454 SHORT syndrome oboInOwl:hasDbXref UMLS_CUI:C0878684 semapv:UnspecifiedMatching +DOID:0111454 SHORT syndrome oboInOwl:hasDbXref UMLS:C0878684 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome skos:exactMatch OMIM:269880 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref GARD:1 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref OMIM:603358 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref ORDO:53693 semapv:UnspecifiedMatching -DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref UMLS_CUI:C1864002 semapv:UnspecifiedMatching +DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref UMLS:C1864002 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome skos:exactMatch OMIM:603358 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref GARD:3084 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref MESH:C537013 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref ORDO:2707 semapv:UnspecifiedMatching -DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref UMLS_CUI:C1855663 semapv:UnspecifiedMatching +DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref UMLS:C1855663 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome skos:exactMatch OMIM:244450 semapv:UnspecifiedMatching DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref GARD:12357 semapv:UnspecifiedMatching DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching @@ -14045,14 +14356,14 @@ DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref GARD:5392 semapv: DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref ORDO:79238 semapv:UnspecifiedMatching -DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref UMLS_CUI:C0751161 semapv:UnspecifiedMatching +DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref UMLS:C0751161 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency skos:exactMatch OMIM:230350 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref GARD:13639 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref NCI:C99104 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref ORDO:79239 semapv:UnspecifiedMatching -DOID:0111459 classic galactosemia oboInOwl:hasDbXref UMLS_CUI:C0268151 semapv:UnspecifiedMatching +DOID:0111459 classic galactosemia oboInOwl:hasDbXref UMLS:C0268151 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia skos:exactMatch OMIM:230400 semapv:UnspecifiedMatching DOID:0111460 cardiofaciocutaneous syndrome 1 oboInOwl:hasDbXref OMIM:115150 semapv:UnspecifiedMatching DOID:0111460 cardiofaciocutaneous syndrome 1 skos:exactMatch OMIM:115150 semapv:UnspecifiedMatching @@ -14095,7 +14406,7 @@ DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref NCI:C125663 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref OMIM:609060 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref ORDO:137681 semapv:UnspecifiedMatching -DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref UMLS_CUI:C1836797 semapv:UnspecifiedMatching +DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref UMLS:C1836797 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 skos:exactMatch OMIM:609060 semapv:UnspecifiedMatching DOID:0111475 combined oxidative phosphorylation deficiency 39 oboInOwl:hasDbXref OMIM:618397 semapv:UnspecifiedMatching DOID:0111475 combined oxidative phosphorylation deficiency 39 skos:exactMatch OMIM:618397 semapv:UnspecifiedMatching @@ -14132,7 +14443,7 @@ DOID:0111485 combined oxidative phosphorylation deficiency 24 skos:exactMatch OM DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref MESH:C566467 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref OMIM:610505 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref ORDO:168566 semapv:UnspecifiedMatching -DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref UMLS_CUI:C1864840 semapv:UnspecifiedMatching +DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref UMLS:C1864840 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 skos:exactMatch OMIM:610505 semapv:UnspecifiedMatching DOID:0111487 combined oxidative phosphorylation deficiency 7 oboInOwl:hasDbXref OMIM:613559 semapv:UnspecifiedMatching DOID:0111487 combined oxidative phosphorylation deficiency 7 oboInOwl:hasDbXref ORDO:254930 semapv:UnspecifiedMatching @@ -14158,7 +14469,7 @@ DOID:0111493 combined oxidative phosphorylation deficiency 12 skos:exactMatch OM DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref MESH:C565690 semapv:UnspecifiedMatching DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref OMIM:610678 semapv:UnspecifiedMatching DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref ORDO:254925 semapv:UnspecifiedMatching -DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref UMLS_CUI:C1857682 semapv:UnspecifiedMatching +DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref UMLS:C1857682 semapv:UnspecifiedMatching DOID:0111494 combined oxidative phosphorylation deficiency 4 skos:exactMatch OMIM:610678 semapv:UnspecifiedMatching DOID:0111495 combined oxidative phosphorylation deficiency 33 oboInOwl:hasDbXref OMIM:617713 semapv:UnspecifiedMatching DOID:0111495 combined oxidative phosphorylation deficiency 33 skos:exactMatch OMIM:617713 semapv:UnspecifiedMatching @@ -14189,52 +14500,52 @@ DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref GARD: DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH:C536152 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ORDO:2202 semapv:UnspecifiedMatching -DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS_CUI:C1835672 semapv:UnspecifiedMatching +DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome skos:exactMatch OMIM:148350 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref GARD:3102 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref MESH:C536164 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ORDO:2198 semapv:UnspecifiedMatching -DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS_CUI:C1835664 semapv:UnspecifiedMatching +DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS:C1835664 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch OMIM:148500 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref GARD:3223 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MESH:C537115 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref OMIM:151050 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ORDO:2658 semapv:UnspecifiedMatching -DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS_CUI:C0432269 semapv:UnspecifiedMatching +DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS:C0432269 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism skos:exactMatch OMIM:151050 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref GARD:4382 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref MESH:C563627 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref OMIM:151210 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref ORDO:85166 semapv:UnspecifiedMatching -DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref UMLS_CUI:C1835437 semapv:UnspecifiedMatching +DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref UMLS:C1835437 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia skos:exactMatch OMIM:151210 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref GARD:333 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref MESH:C537710 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref NCI:C128191 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref OMIM:153400 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref ORDO:33001 semapv:UnspecifiedMatching -DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS_CUI:C0265345 semapv:UnspecifiedMatching +DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS:C0265345 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome skos:exactMatch OMIM:153400 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref GARD:6984 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref MESH:C536025 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref NCI:C128115 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref OMIM:154780 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref ORDO:560 semapv:UnspecifiedMatching -DOID:0111510 Marshall syndrome oboInOwl:hasDbXref UMLS_CUI:C0265235 semapv:UnspecifiedMatching +DOID:0111510 Marshall syndrome oboInOwl:hasDbXref UMLS:C0265235 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome skos:exactMatch OMIM:154780 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref GARD:8468 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref MESH:C536149 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref NCI:C176905 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref OMIM:155755 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref ORDO:252206 semapv:UnspecifiedMatching -DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS_CUI:C1835042 semapv:UnspecifiedMatching +DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS:C1835042 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome skos:exactMatch OMIM:155755 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref GARD:3560 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref MESH:C562938 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref OMIM:156250 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref ORDO:2499 semapv:UnspecifiedMatching -DOID:0111512 metachondromatosis oboInOwl:hasDbXref UMLS_CUI:C0410530 semapv:UnspecifiedMatching +DOID:0111512 metachondromatosis oboInOwl:hasDbXref UMLS:C0410530 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis skos:exactMatch OMIM:156250 semapv:UnspecifiedMatching DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome oboInOwl:hasDbXref GARD:3568 semapv:UnspecifiedMatching DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching @@ -14245,7 +14556,7 @@ DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref MESH:C537356 semapv:Unspeci DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref NCI:C175209 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref OMIM:156530 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref ORDO:2635 semapv:UnspecifiedMatching -DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0265281 semapv:UnspecifiedMatching +DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref UMLS:C0265281 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia skos:exactMatch OMIM:156530 semapv:UnspecifiedMatching DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 oboInOwl:hasDbXref OMIM:616479 semapv:UnspecifiedMatching DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 oboInOwl:hasDbXref ORDO:329336 semapv:UnspecifiedMatching @@ -14276,31 +14587,31 @@ DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref MESH:C567 DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref NCI:C120376 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref OMIM:158330 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref ORDO:247768 semapv:UnspecifiedMatching -DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS_CUI:C2675014 semapv:UnspecifiedMatching +DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS:C2675014 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism skos:exactMatch OMIM:158330 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref GARD:3044 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref GARD:3875 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:C537563 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref OMIM:159950 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref ORDO:2590 semapv:UnspecifiedMatching -DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C1834569 semapv:UnspecifiedMatching +DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS:C1834569 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy skos:exactMatch OMIM:159950 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref GARD:3912 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref MESH:C538331 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM:161000 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ORDO:69087 semapv:UnspecifiedMatching -DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS_CUI:C0343111 semapv:UnspecifiedMatching +DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS:C0343111 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch OMIM:161000 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref GARD:3986 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref MESH:C535816 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref OMIM:163000 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref ORDO:624 semapv:UnspecifiedMatching -DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref UMLS_CUI:C2931029 semapv:UnspecifiedMatching +DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref UMLS:C2931029 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei skos:exactMatch OMIM:163000 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref GARD:10291 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref OMIM:163200 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref ORDO:2612 semapv:UnspecifiedMatching -DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref UMLS_CUI:C3854181 semapv:UnspecifiedMatching +DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref UMLS:C3854181 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome skos:exactMatch OMIM:163200 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref GARD:8419 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ICD10CM:H47.03 semapv:UnspecifiedMatching @@ -14309,26 +14620,26 @@ DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref MESH:D000080344 DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref NCI:C98999 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref OMIM:165550 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ORDO:137902 semapv:UnspecifiedMatching -DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0338502 semapv:UnspecifiedMatching +DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C0338502 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia skos:exactMatch OMIM:165550 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref GARD:4142 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref MESH:C536050 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref OMIM:166250 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref ORDO:2645 semapv:UnspecifiedMatching -DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0432283 semapv:UnspecifiedMatching +DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref UMLS:C0432283 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia skos:exactMatch OMIM:166250 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref GARD:8698 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C536039 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:166260 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref ORDO:53697 semapv:UnspecifiedMatching -DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1833736 semapv:UnspecifiedMatching +DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1833736 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia skos:exactMatch OMIM:166260 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref GARD:3818 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref MESH:C567171 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref NCI:C178416 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref OMIM:166300 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref ORDO:2774 semapv:UnspecifiedMatching -DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref UMLS_CUI:C2674705 semapv:UnspecifiedMatching +DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref UMLS:C2674705 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome skos:exactMatch OMIM:166300 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref GARD:109 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MEDDRA:10048902 semapv:UnspecifiedMatching @@ -14336,20 +14647,20 @@ DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MESH:C562735 se DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref NCI:C132062 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref ORDO:2762 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref UMLS_CUI:C0334041 semapv:UnspecifiedMatching +DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref UMLS:C0334041 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia skos:exactMatch OMIM:166350 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref GARD:1044 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref MESH:C537415 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref ORDO:1306 semapv:UnspecifiedMatching -DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref UMLS_CUI:C0265514 semapv:UnspecifiedMatching +DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref UMLS:C0265514 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome skos:exactMatch OMIM:166700 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref GARD:12854 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref NCI:C125385 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref ORDO:46348 semapv:UnspecifiedMatching -DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS_CUI:C1833661 semapv:UnspecifiedMatching +DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS:C1833661 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder skos:exactMatch OMIM:167400 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref GARD:7325 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10CM:G71.19 semapv:UnspecifiedMatching @@ -14357,31 +14668,31 @@ DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MESH:D02 DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref NCI:C122790 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ORDO:684 semapv:UnspecifiedMatching -DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS_CUI:C0221055 semapv:UnspecifiedMatching +DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C0221055 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg skos:exactMatch OMIM:168300 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref GARD:4222 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref ORDO:2646 semapv:UnspecifiedMatching -DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref UMLS_CUI:C1868616 semapv:UnspecifiedMatching +DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism skos:exactMatch OMIM:168400 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref GARD:7473 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref MESH:D056732 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref NCI:C85029 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref OMIM:170100 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref ORDO:742 semapv:UnspecifiedMatching -DOID:0111540 prolidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268532 semapv:UnspecifiedMatching +DOID:0111540 prolidase deficiency oboInOwl:hasDbXref UMLS:C0268532 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency skos:exactMatch OMIM:170100 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref MESH:C566801 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref OMIM:172870 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref ORDO:251295 semapv:UnspecifiedMatching -DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref UMLS_CUI:C1868310 semapv:UnspecifiedMatching +DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1868310 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy skos:exactMatch OMIM:172870 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref GARD:9168 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref ORDO:85195 semapv:UnspecifiedMatching -DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref UMLS_CUI:C0432292 semapv:UnspecifiedMatching +DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis skos:exactMatch OMIM:174810 semapv:UnspecifiedMatching DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome skos:exactMatch OMIM:175050 semapv:UnspecifiedMatching @@ -14389,21 +14700,21 @@ DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref GARD:4470 semapv:Unspecified DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref MESH:C538278 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref OMIM:176305 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref ORDO:2957 semapv:UnspecifiedMatching -DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref UMLS_CUI:C1867801 semapv:UnspecifiedMatching +DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref UMLS:C1867801 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome skos:exactMatch OMIM:176305 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref GARD:4475 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:D011629 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref ORDO:3000 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS_CUI:C0342549 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS_CUI:C1504412 semapv:UnspecifiedMatching +DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS:C0342549 semapv:UnspecifiedMatching +DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS:C1504412 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty skos:exactMatch OMIM:176410 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref GARD:1626 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref MESH:C536221 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref OMIM:176450 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref ORDO:1552 semapv:UnspecifiedMatching -DOID:0111546 Currarino syndrome oboInOwl:hasDbXref UMLS_CUI:C1531773 semapv:UnspecifiedMatching +DOID:0111546 Currarino syndrome oboInOwl:hasDbXref UMLS:C1531773 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome skos:exactMatch OMIM:176450 semapv:UnspecifiedMatching DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref ORDO:75326 semapv:UnspecifiedMatching @@ -14412,43 +14723,43 @@ DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref GARD:9696 semapv:Unspecif DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref ORDO:91481 semapv:UnspecifiedMatching -DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref UMLS_CUI:C1867155 semapv:UnspecifiedMatching +DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref UMLS:C1867155 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea skos:exactMatch OMIM:180550 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD9CM:750.21 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref MESH:C562407 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ORDO:86815 semapv:UnspecifiedMatching -DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS_CUI:C0158667 semapv:UnspecifiedMatching +DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS:C0158667 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands skos:exactMatch OMIM:180920 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref GARD:159 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref MESH:C536623 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref OMIM:181270 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref ORDO:2036 semapv:UnspecifiedMatching -DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS_CUI:C1867020 semapv:UnspecifiedMatching +DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS:C1867020 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome skos:exactMatch OMIM:181270 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref GARD:10312 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref MESH:C566695 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref OMIM:181400 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref ORDO:85146 semapv:UnspecifiedMatching -DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref UMLS_CUI:C1867005 semapv:UnspecifiedMatching +DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref UMLS:C1867005 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type skos:exactMatch OMIM:181400 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref GARD:10314 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.1 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref MESH:D009134 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ORDO:431255 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0751335 semapv:UnspecifiedMatching +DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0751335 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy skos:exactMatch OMIM:181405 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref GARD:994 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref ORDO:263482 semapv:UnspecifiedMatching -DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref UMLS_CUI:C3159322 semapv:UnspecifiedMatching +DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type skos:exactMatch OMIM:184095 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref GARD:3047 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref MESH:C535797 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref OMIM:184252 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref ORDO:93314 semapv:UnspecifiedMatching -DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref UMLS_CUI:C0265280 semapv:UnspecifiedMatching +DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref UMLS:C0265280 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type skos:exactMatch OMIM:184252 semapv:UnspecifiedMatching DOID:0111555 Alkuraya-Kucinskas syndrome oboInOwl:hasDbXref OMIM:617822 semapv:UnspecifiedMatching DOID:0111555 Alkuraya-Kucinskas syndrome skos:exactMatch OMIM:617822 semapv:UnspecifiedMatching @@ -14473,7 +14784,7 @@ DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref MESH:C566112 semapv:Unspecif DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref NCI:C118636 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref OMIM:184900 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref ORDO:2833 semapv:UnspecifiedMatching -DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref UMLS_CUI:C1861456 semapv:UnspecifiedMatching +DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref UMLS:C1861456 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome skos:exactMatch OMIM:184900 semapv:UnspecifiedMatching DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref GARD:4183 semapv:UnspecifiedMatching DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 semapv:UnspecifiedMatching @@ -14485,20 +14796,20 @@ DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:Unspec DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref NCI:C3391 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref ORDO:3205 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS_CUI:C0038505 semapv:UnspecifiedMatching +DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome skos:exactMatch OMIM:185300 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref GARD:8309 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref MESH:C535564 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:3332 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:988 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref UMLS_CUI:C1861099 semapv:UnspecifiedMatching +DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref UMLS:C1861099 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly skos:exactMatch OMIM:188740 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref GARD:7799 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref MESH:C536549 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref OMIM:190320 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref ORDO:3352 semapv:UnspecifiedMatching -DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref UMLS_CUI:C0265333 semapv:UnspecifiedMatching +DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref UMLS:C0265333 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome skos:exactMatch OMIM:190320 semapv:UnspecifiedMatching DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref ORDO:411788 semapv:UnspecifiedMatching @@ -14507,32 +14818,32 @@ DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXre DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref MESH:C566007 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref OMIM:192315 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref ORDO:247691 semapv:UnspecifiedMatching -DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C1860518 semapv:UnspecifiedMatching +DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref UMLS:C1860518 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy skos:exactMatch OMIM:192315 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref GARD:5488 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref MEDDRA:10066242 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref MESH:D005413 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref ORDO:178382 semapv:UnspecifiedMatching -DOID:0111568 congenital vertical talus oboInOwl:hasDbXref UMLS_CUI:C0240912 semapv:UnspecifiedMatching +DOID:0111568 congenital vertical talus oboInOwl:hasDbXref UMLS:C0240912 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus skos:exactMatch OMIM:192950 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref GARD:5507 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ORDO:3086 semapv:UnspecifiedMatching -DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS_CUI:C3888099 semapv:UnspecifiedMatching +DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS:C3888099 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy skos:exactMatch OMIM:193220 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref GARD:9706 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref ORDO:91496 semapv:UnspecifiedMatching -DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS_CUI:C1860405 semapv:UnspecifiedMatching +DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C1860405 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration skos:exactMatch OMIM:193230 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref GARD:497 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref OMIM:193530 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref ORDO:952 semapv:UnspecifiedMatching -DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C0457013 semapv:UnspecifiedMatching +DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref UMLS:C0457013 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis skos:exactMatch OMIM:193530 semapv:UnspecifiedMatching DOID:0111572 familial woolly hair syndrome oboInOwl:hasDbXref GARD:5597 semapv:UnspecifiedMatching DOID:0111572 familial woolly hair syndrome oboInOwl:hasDbXref ORDO:170 semapv:UnspecifiedMatching @@ -14543,7 +14854,7 @@ DOID:0111574 autosomal recessive woolly hair 3 skos:exactMatch OMIM:616760 semap DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref GARD:5623 semapv:UnspecifiedMatching DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref MESH:C536764 semapv:UnspecifiedMatching DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ORDO:3202 semapv:UnspecifiedMatching -DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS_CUI:C0272051 semapv:UnspecifiedMatching +DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C0272051 semapv:UnspecifiedMatching DOID:0111576 dehydrated hereditary stomatocytosis 1 oboInOwl:hasDbXref OMIM:194380 semapv:UnspecifiedMatching DOID:0111576 dehydrated hereditary stomatocytosis 1 skos:exactMatch OMIM:194380 semapv:UnspecifiedMatching DOID:0111577 dehydrated hereditary stomatocytosis 2 oboInOwl:hasDbXref OMIM:616689 semapv:UnspecifiedMatching @@ -14552,7 +14863,7 @@ DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref GARD:13 semapv:UnspecifiedMat DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref MESH:C536370 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref OMIM:206700 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref ORDO:1065 semapv:UnspecifiedMatching -DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref UMLS_CUI:C0431401 semapv:UnspecifiedMatching +DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref UMLS:C0431401 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome skos:exactMatch OMIM:206700 semapv:UnspecifiedMatching DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref MESH:C565935 semapv:UnspecifiedMatching DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref OMIM:208550 semapv:UnspecifiedMatching @@ -14561,13 +14872,13 @@ DOID:0111580 Behr syndrome oboInOwl:hasDbXref GARD:849 semapv:UnspecifiedMatchin DOID:0111580 Behr syndrome oboInOwl:hasDbXref MESH:C537669 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref NCI:C177251 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref OMIM:210000 semapv:UnspecifiedMatching -DOID:0111580 Behr syndrome oboInOwl:hasDbXref UMLS_CUI:C0221061 semapv:UnspecifiedMatching +DOID:0111580 Behr syndrome oboInOwl:hasDbXref UMLS:C0221061 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome skos:exactMatch OMIM:210000 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref GARD:5978 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref MESH:C537418 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref OMIM:211750 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref ORDO:1308 semapv:UnspecifiedMatching -DOID:0111581 C syndrome oboInOwl:hasDbXref UMLS_CUI:C0796095 semapv:UnspecifiedMatching +DOID:0111581 C syndrome oboInOwl:hasDbXref UMLS:C0796095 semapv:UnspecifiedMatching DOID:0111581 C syndrome skos:exactMatch OMIM:211750 semapv:UnspecifiedMatching DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref GARD:10762 semapv:UnspecifiedMatching DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 semapv:UnspecifiedMatching @@ -14576,7 +14887,7 @@ DOID:0111582 hereditary arterial and articular multiple calcification syndrome s DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref MESH:C562876 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref NCI:C132196 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref OMIM:212070 semapv:UnspecifiedMatching -DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref UMLS_CUI:C0398782 semapv:UnspecifiedMatching +DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref UMLS:C0398782 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency skos:exactMatch OMIM:212070 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref GARD:3373 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching @@ -14584,51 +14895,51 @@ DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboI DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref NCI:C174217 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ORDO:2229 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS_CUI:C0796031 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS_CUI:C0796083 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796031 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796083 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:212112 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref GARD:1123 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MESH:C562812 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref NCI:C133086 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ORDO:159 semapv:UnspecifiedMatching -DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342791 semapv:UnspecifiedMatching +DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS:C0342791 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency skos:exactMatch OMIM:212138 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref GARD:3406 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref MESH:C536028 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref OMIM:212720 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref ORDO:1387 semapv:UnspecifiedMatching -DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref UMLS_CUI:C0796037 semapv:UnspecifiedMatching +DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref UMLS:C0796037 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome skos:exactMatch OMIM:212720 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref MESH:C565870 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref OMIM:212840 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref ORDO:1173 semapv:UnspecifiedMatching -DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref UMLS_CUI:C1859305 semapv:UnspecifiedMatching +DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref UMLS:C1859305 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome skos:exactMatch OMIM:212840 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref GARD:8754 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref MESH:C535858 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref ORDO:1426 semapv:UnspecifiedMatching -DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref UMLS_CUI:C2931048 semapv:UnspecifiedMatching +DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C2931048 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia skos:exactMatch OMIM:215140 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref GARD:1410 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref MESH:C536430 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref OMIM:216360 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref ORDO:1454 semapv:UnspecifiedMatching -DOID:0111589 COACH syndrome oboInOwl:hasDbXref UMLS_CUI:C1857662 semapv:UnspecifiedMatching +DOID:0111589 COACH syndrome oboInOwl:hasDbXref UMLS:C1857662 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome skos:exactMatch OMIM:216360 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref GARD:6126 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref MEDDRA:10049066 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref MESH:C536438 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref ORDO:193 semapv:UnspecifiedMatching -DOID:0111590 Cohen syndrome oboInOwl:hasDbXref UMLS_CUI:C0265223 semapv:UnspecifiedMatching +DOID:0111590 Cohen syndrome oboInOwl:hasDbXref UMLS:C0265223 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome skos:exactMatch OMIM:216550 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref GARD:4166 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref MESH:C535849 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref OMIM:217085 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref ORDO:1338 semapv:UnspecifiedMatching -DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref UMLS_CUI:C2931046 semapv:UnspecifiedMatching +DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref UMLS:C2931046 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch OMIM:217085 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref GARD:4380 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ICD10CM:E88.02 semapv:UnspecifiedMatching @@ -14636,8 +14947,8 @@ DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C566897 semap DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C580017 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref OMIM:217090 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ORDO:722 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS_CUI:C0398621 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS_CUI:C1968804 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS:C0398621 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS:C1968804 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I skos:exactMatch OMIM:217090 semapv:UnspecifiedMatching DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref MESH:C566069 semapv:UnspecifiedMatching DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref OMIM:187370 semapv:UnspecifiedMatching @@ -14650,7 +14961,7 @@ DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref MESH:C536 DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref NCI:C129865 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref OMIM:121050 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref ORDO:115 semapv:UnspecifiedMatching -DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS_CUI:C0220668 semapv:UnspecifiedMatching +DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS:C0220668 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly skos:exactMatch OMIM:121050 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref GARD:787 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref MESH:C565097 semapv:UnspecifiedMatching @@ -14708,13 +15019,13 @@ DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref GAR DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537310 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref OMIM:607317 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref ORDO:95434 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref UMLS_CUI:C1846492 semapv:UnspecifiedMatching +DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref UMLS:C1846492 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 skos:exactMatch OMIM:607317 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref GARD:9971 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref MESH:C537309 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref OMIM:271250 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref ORDO:95433 semapv:UnspecifiedMatching -DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref UMLS_CUI:C1849094 semapv:UnspecifiedMatching +DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref UMLS:C1849094 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 skos:exactMatch OMIM:271250 semapv:UnspecifiedMatching DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref OMIM:616949 semapv:UnspecifiedMatching DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref ORDO:404493 semapv:UnspecifiedMatching @@ -14729,34 +15040,34 @@ DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref GAR DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref MESH:C537312 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref ORDO:284332 semapv:UnspecifiedMatching -DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref UMLS_CUI:C1842676 semapv:UnspecifiedMatching +DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref UMLS:C1842676 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 skos:exactMatch OMIM:608029 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref GARD:12234 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref MESH:C565188 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref OMIM:610743 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref ORDO:88644 semapv:UnspecifiedMatching -DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref UMLS_CUI:C1853116 semapv:UnspecifiedMatching +DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref UMLS:C1853116 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 skos:exactMatch OMIM:610743 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ORDO:356978 semapv:UnspecifiedMatching -DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS_CUI:C5574940 semapv:UnspecifiedMatching +DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C5574940 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:615182 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref GARD:1529 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MESH:C535473 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref OMIM:217400 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ORDO:1490 semapv:UnspecifiedMatching -DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS_CUI:C1857572 semapv:UnspecifiedMatching +DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS:C1857572 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome skos:exactMatch OMIM:217400 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref GARD:5688 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref MESH:C536959 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref NCI:C148371 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref OMIM:218340 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref ORDO:1777 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref UMLS_CUI:C1857512 semapv:UnspecifiedMatching +DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref UMLS:C1857512 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome skos:exactMatch OMIM:218340 semapv:UnspecifiedMatching DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref GARD:10824 semapv:UnspecifiedMatching DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref ORDO:189427 semapv:UnspecifiedMatching -DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref UMLS_CUI:C2062388 semapv:UnspecifiedMatching +DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref UMLS:C2062388 semapv:UnspecifiedMatching DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 oboInOwl:hasDbXref OMIM:219080 semapv:UnspecifiedMatching DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch OMIM:219080 semapv:UnspecifiedMatching DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 oboInOwl:hasDbXref OMIM:615954 semapv:UnspecifiedMatching @@ -14764,20 +15075,20 @@ DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref MESH:C565657 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref OMIM:219730 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref ORDO:443988 semapv:UnspecifiedMatching -DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C1857423 semapv:UnspecifiedMatching +DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref UMLS:C1857423 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease skos:exactMatch OMIM:219730 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref GARD:234 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ICD10CM:E72.59 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ORDO:941 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref UMLS_CUI:C1291386 semapv:UnspecifiedMatching +DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref UMLS:C1291386 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria skos:exactMatch OMIM:220120 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref GARD:1685 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref MESH:C538204 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref ORDO:79500 semapv:UnspecifiedMatching -DOID:0111627 DOORS syndrome oboInOwl:hasDbXref UMLS_CUI:C0795927 semapv:UnspecifiedMatching +DOID:0111627 DOORS syndrome oboInOwl:hasDbXref UMLS:C0795927 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome skos:exactMatch OMIM:220500 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref GARD:12844 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 semapv:UnspecifiedMatching @@ -14787,7 +15098,7 @@ DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref GARD:12347 semapv DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref MESH:C562815 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref OMIM:222748 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref ORDO:38874 semapv:UnspecifiedMatching -DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342803 semapv:UnspecifiedMatching +DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref UMLS:C0342803 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency skos:exactMatch OMIM:222748 semapv:UnspecifiedMatching DOID:0111630 familial erythrocytosis 8 oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching DOID:0111630 familial erythrocytosis 8 oboInOwl:hasDbXref ORDO:714 semapv:UnspecifiedMatching @@ -14803,7 +15114,7 @@ DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C5 DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref NCI:C128190 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ORDO:35122 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS_CUI:C1283620 semapv:UnspecifiedMatching +DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS:C1283620 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency skos:exactMatch OMIM:222900 semapv:UnspecifiedMatching DOID:0111634 autosomal recessive nonsyndromic deafness 99 oboInOwl:hasDbXref OMIM:618481 semapv:UnspecifiedMatching DOID:0111634 autosomal recessive nonsyndromic deafness 99 skos:exactMatch OMIM:618481 semapv:UnspecifiedMatching @@ -14834,16 +15145,16 @@ DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ICD10CM:E73.0 sema DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref MESH:C562600 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ORDO:53690 semapv:UnspecifiedMatching -DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268179 semapv:UnspecifiedMatching +DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref UMLS:C0268179 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency skos:exactMatch OMIM:223000 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref MESH:C565607 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref ORDO:50944 semapv:UnspecifiedMatching -DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS_CUI:C1857069 semapv:UnspecifiedMatching +DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS:C1857069 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome skos:exactMatch OMIM:224750 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref MESH:C563268 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref OMIM:225200 semapv:UnspecifiedMatching -DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref UMLS_CUI:C1644196 semapv:UnspecifiedMatching +DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref UMLS:C1644196 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil skos:exactMatch OMIM:225200 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref GARD:2078 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref OMIM:225280 semapv:UnspecifiedMatching @@ -14861,7 +15172,7 @@ DOID:0111654 ectodermal dysplasia 11B oboInOwl:hasDbXref OMIM:614941 semapv:Unsp DOID:0111654 ectodermal dysplasia 11B skos:exactMatch OMIM:614941 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref MESH:C566592 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ORDO:69084 semapv:UnspecifiedMatching -DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1865951 semapv:UnspecifiedMatching +DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref UMLS:C1865951 semapv:UnspecifiedMatching DOID:0111656 ectodermal dysplasia 9 oboInOwl:hasDbXref OMIM:614931 semapv:UnspecifiedMatching DOID:0111656 ectodermal dysplasia 9 skos:exactMatch OMIM:614931 semapv:UnspecifiedMatching DOID:0111657 ectodermal dysplasia 5 oboInOwl:hasDbXref OMIM:614927 semapv:UnspecifiedMatching @@ -14874,7 +15185,7 @@ DOID:0111660 ectodermal dysplasia 7 oboInOwl:hasDbXref OMIM:614929 semapv:Unspec DOID:0111660 ectodermal dysplasia 7 skos:exactMatch OMIM:614929 semapv:UnspecifiedMatching DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref ORDO:99672 semapv:UnspecifiedMatching -DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref UMLS_CUI:C0406715 semapv:UnspecifiedMatching +DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref UMLS:C0406715 semapv:UnspecifiedMatching DOID:0111661 ectodermal dysplasia 8 skos:exactMatch OMIM:602401 semapv:UnspecifiedMatching DOID:0111662 ectodermal dysplasia 14 oboInOwl:hasDbXref OMIM:618180 semapv:UnspecifiedMatching DOID:0111662 ectodermal dysplasia 14 skos:exactMatch OMIM:618180 semapv:UnspecifiedMatching @@ -14884,7 +15195,7 @@ DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref MESH:D053358 semapv:Unspe DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref ORDO:181 semapv:UnspecifiedMatching -DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C0162359 semapv:UnspecifiedMatching +DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 skos:exactMatch OMIM:305100 semapv:UnspecifiedMatching DOID:0111665 ectodermal dysplasia 10B oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching DOID:0111665 ectodermal dysplasia 10B skos:exactMatch OMIM:224900 semapv:UnspecifiedMatching @@ -14892,48 +15203,48 @@ DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrom DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref MESH:C565593 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref OMIM:225790 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref ORDO:221126 semapv:UnspecifiedMatching -DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref UMLS_CUI:C1856972 semapv:UnspecifiedMatching +DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref UMLS:C1856972 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch OMIM:225790 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref MESH:C562649 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref OMIM:226200 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref ORDO:168601 semapv:UnspecifiedMatching -DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268416 semapv:UnspecifiedMatching +DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref UMLS:C0268416 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency skos:exactMatch OMIM:226200 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref GARD:3128 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref MESH:C537213 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref OMIM:226750 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref ORDO:1946 semapv:UnspecifiedMatching -DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref UMLS_CUI:C0406740 semapv:UnspecifiedMatching +DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref UMLS:C0406740 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome skos:exactMatch OMIM:226750 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref NCI:C98297 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref ORDO:498474 semapv:UnspecifiedMatching -DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref UMLS_CUI:C2745948 semapv:UnspecifiedMatching +DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref UMLS:C2745948 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome skos:exactMatch OMIM:228600 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref GARD:2835 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref NCI:C123212 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref ORDO:93598 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS_CUI:C0268164 semapv:UnspecifiedMatching +DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS:C0268164 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 skos:exactMatch OMIM:259900 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref GARD:2836 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref MESH:C536415 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref NCI:C123213 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref ORDO:93599 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS_CUI:C0268165 semapv:UnspecifiedMatching +DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS:C0268165 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 skos:exactMatch OMIM:260000 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref GARD:10738 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref NCI:C123214 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref ORDO:93600 semapv:UnspecifiedMatching -DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref UMLS_CUI:C3150878 semapv:UnspecifiedMatching +DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref UMLS:C3150878 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 skos:exactMatch OMIM:613616 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref OMIM:618150 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref ORDO:85172 semapv:UnspecifiedMatching -DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref UMLS_CUI:C1300285 semapv:UnspecifiedMatching +DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref UMLS:C1300285 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome skos:exactMatch OMIM:618150 semapv:UnspecifiedMatching DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities oboInOwl:hasDbXref OMIM:618687 semapv:UnspecifiedMatching DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch OMIM:618687 semapv:UnspecifiedMatching @@ -14944,37 +15255,37 @@ DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref MESH: DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref NCI:C98946 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref ORDO:483 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref UMLS_CUI:C0272340 semapv:UnspecifiedMatching +DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref UMLS:C0272340 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency skos:exactMatch OMIM:228960 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref MESH:C565564 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref OMIM:228980 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref ORDO:363989 semapv:UnspecifiedMatching -DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref UMLS_CUI:C1856718 semapv:UnspecifiedMatching +DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref UMLS:C1856718 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina skos:exactMatch OMIM:228980 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref GARD:12983 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref MESH:C562799 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref NCI:C156424 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref ORDO:90045 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref UMLS_CUI:C0342705 semapv:UnspecifiedMatching +DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref UMLS:C0342705 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption skos:exactMatch OMIM:229050 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref GARD:9279 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref ORDO:51208 semapv:UnspecifiedMatching -DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268609 semapv:UnspecifiedMatching +DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref UMLS:C0268609 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency skos:exactMatch OMIM:229100 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref ICD10CM:E74.11 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref MEDDRA:10015487 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref MESH:C538068 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref OMIM:229800 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref ORDO:2056 semapv:UnspecifiedMatching -DOID:0111680 essential fructosuria oboInOwl:hasDbXref UMLS_CUI:C0268160 semapv:UnspecifiedMatching +DOID:0111680 essential fructosuria oboInOwl:hasDbXref UMLS:C0268160 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria skos:exactMatch OMIM:229800 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref MESH:C565557 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ORDO:33574 semapv:UnspecifiedMatching -DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS_CUI:C1856603 semapv:UnspecifiedMatching +DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS:C1856603 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency skos:exactMatch OMIM:230450 semapv:UnspecifiedMatching DOID:0111682 diffuse cystic renal dysplasia oboInOwl:hasDbXref GARD:4658 semapv:UnspecifiedMatching DOID:0111682 diffuse cystic renal dysplasia oboInOwl:hasDbXref OMIM:601331 semapv:UnspecifiedMatching @@ -14983,13 +15294,14 @@ DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref GARD:372 semap DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ORDO:638 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS_CUI:C2931482 semapv:UnspecifiedMatching +DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS:C2931482 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch GARD:372 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch MESH:C537393 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch ORDO:638 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch UMLS_CUI:C2931482 semapv:UnspecifiedMatching +DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:715344006 semapv:UnspecifiedMatching +DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching DOID:0111684 hereditary mixed polyposis syndrome oboInOwl:hasDbXref ORDO:157794 semapv:UnspecifiedMatching DOID:0111685 hereditary mixed polyposis syndrome 1 oboInOwl:hasDbXref OMIM:601228 semapv:UnspecifiedMatching DOID:0111685 hereditary mixed polyposis syndrome 1 skos:exactMatch OMIM:601228 semapv:UnspecifiedMatching @@ -15000,15 +15312,15 @@ DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:Uns DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref NCI:C75456 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref ORDO:52022 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS_CUI:C1832588 semapv:UnspecifiedMatching +DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS:C1832588 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome skos:exactMatch OMIM:601224 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref MESH:C563390 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:UnspecifiedMatching -DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref UMLS_CUI:C1832812 semapv:UnspecifiedMatching +DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref UMLS:C1832812 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome skos:exactMatch OMIM:601088 semapv:UnspecifiedMatching DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref OMIMPS:601068 semapv:UnspecifiedMatching DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref ORDO:86814 semapv:UnspecifiedMatching -DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C4273988 semapv:UnspecifiedMatching +DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref UMLS:C4273988 semapv:UnspecifiedMatching DOID:0111689 familial adult myoclonic epilepsy skos:exactMatch OMIMPS:601068 semapv:UnspecifiedMatching DOID:0111690 familial adult myoclonic epilepsy 1 oboInOwl:hasDbXref OMIM:601068 semapv:UnspecifiedMatching DOID:0111690 familial adult myoclonic epilepsy 1 skos:exactMatch OMIM:601068 semapv:UnspecifiedMatching @@ -15026,18 +15338,18 @@ DOID:0111696 familial adult myoclonic epilepsy 6 oboInOwl:hasDbXref OMIM:618074 DOID:0111696 familial adult myoclonic epilepsy 6 skos:exactMatch OMIM:618074 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref MESH:C563414 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref OMIM:600987 semapv:UnspecifiedMatching -DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref UMLS_CUI:C1832950 semapv:UnspecifiedMatching +DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref UMLS:C1832950 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity skos:exactMatch OMIM:600987 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref MESH:C563423 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref OMIM:600955 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref ORDO:71528 semapv:UnspecifiedMatching -DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref UMLS_CUI:C1833053 semapv:UnspecifiedMatching +DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref UMLS:C1833053 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency skos:exactMatch OMIM:600955 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref GARD:3382 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref MESH:C535909 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref OMIM:600920 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref ORDO:2460 semapv:UnspecifiedMatching -DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref UMLS_CUI:C1833136 semapv:UnspecifiedMatching +DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref UMLS:C1833136 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome skos:exactMatch OMIM:600920 semapv:UnspecifiedMatching DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref GARD:13294 semapv:UnspecifiedMatching DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching @@ -15048,25 +15360,25 @@ DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref GARD:3287 semapv:Unsp DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref MESH:D058247 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref OMIM:600628 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref ORDO:168 semapv:UnspecifiedMatching -DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref UMLS_CUI:C0406468 semapv:UnspecifiedMatching +DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref UMLS:C0406468 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome skos:exactMatch OMIM:600628 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref GARD:2871 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref MESH:C563467 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref ORDO:2224 semapv:UnspecifiedMatching -DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref UMLS_CUI:C2931837 semapv:UnspecifiedMatching +DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia skos:exactMatch OMIM:600627 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref NCI:C129021 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref ORDO:1001 semapv:UnspecifiedMatching -DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C2931817 semapv:UnspecifiedMatching +DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref UMLS:C2931817 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome skos:exactMatch OMIM:600430 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref GARD:10366 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref MESH:C563969 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref ORDO:3339 semapv:UnspecifiedMatching -DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref UMLS_CUI:C1838329 semapv:UnspecifiedMatching +DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome skos:exactMatch OMIM:600268 semapv:UnspecifiedMatching DOID:0111706 oblique facial clefting 1 oboInOwl:hasDbXref OMIM:600251 semapv:UnspecifiedMatching DOID:0111706 oblique facial clefting 1 skos:exactMatch OMIM:600251 semapv:UnspecifiedMatching @@ -15075,7 +15387,7 @@ DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref OMIM:6002 DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch OMIM:600231 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:C538682 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:448264 semapv:UnspecifiedMatching -DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS_CUI:C2931923 semapv:UnspecifiedMatching +DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C2931923 semapv:UnspecifiedMatching DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 oboInOwl:hasDbXref OMIM:613000 semapv:UnspecifiedMatching DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 skos:exactMatch OMIM:613000 semapv:UnspecifiedMatching DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching @@ -15089,33 +15401,33 @@ DOID:0111712 Kagami-Ogata syndrome skos:exactMatch OMIM:608149 semapv:Unspecifie DOID:0111713 Temple syndrome oboInOwl:hasDbXref NCI:C120409 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref ORDO:254516 semapv:UnspecifiedMatching -DOID:0111713 Temple syndrome oboInOwl:hasDbXref UMLS_CUI:C4015558 semapv:UnspecifiedMatching +DOID:0111713 Temple syndrome oboInOwl:hasDbXref UMLS:C4015558 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome skos:exactMatch OMIM:616222 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref OMIM:617352 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref ORDO:96186 semapv:UnspecifiedMatching -DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref UMLS_CUI:C4275029 semapv:UnspecifiedMatching +DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref UMLS:C4275029 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome skos:exactMatch OMIM:617352 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref GARD:13316 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref ORDO:398069 semapv:UnspecifiedMatching -DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref UMLS_CUI:C3809877 semapv:UnspecifiedMatching +DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref UMLS:C3809877 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome skos:exactMatch OMIM:615547 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ICD10CM:Q11.2 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ICD9CM:743.06 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref NCI:C124520 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ORDO:98562 semapv:UnspecifiedMatching -DOID:0111716 cryptophthalmia oboInOwl:hasDbXref UMLS_CUI:C0311249 semapv:UnspecifiedMatching +DOID:0111716 cryptophthalmia oboInOwl:hasDbXref UMLS:C0311249 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref MESH:C565138 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref ORDO:91396 semapv:UnspecifiedMatching -DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref UMLS_CUI:C1852453 semapv:UnspecifiedMatching +DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref UMLS:C1852453 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia skos:exactMatch OMIM:123570 semapv:UnspecifiedMatching DOID:0111718 partial cryptophthalmia oboInOwl:hasDbXref ORDO:98950 semapv:UnspecifiedMatching DOID:0111719 complete cryptophthalmia oboInOwl:hasDbXref ORDO:98949 semapv:UnspecifiedMatching DOID:0111720 congenital symblepharon oboInOwl:hasDbXref ORDO:98948 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C562880 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref ORDO:100032 semapv:UnspecifiedMatching -DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS_CUI:C0399376 semapv:UnspecifiedMatching +DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0399376 semapv:UnspecifiedMatching DOID:0111722 amelogenesis imperfecta type 3C oboInOwl:hasDbXref OMIM:618386 semapv:UnspecifiedMatching DOID:0111722 amelogenesis imperfecta type 3C skos:exactMatch OMIM:618386 semapv:UnspecifiedMatching DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref GARD:307 semapv:UnspecifiedMatching @@ -15127,7 +15439,7 @@ DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref GARD:2449 semapv:Unspecifi DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref MEDDRA:10063361 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref OMIMPS:231050 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref ORDO:2623 semapv:UnspecifiedMatching -DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref UMLS_CUI:C3489726 semapv:UnspecifiedMatching +DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref UMLS:C3489726 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia skos:exactMatch OMIMPS:231050 semapv:UnspecifiedMatching DOID:0111725 geleophysic dysplasia 1 oboInOwl:hasDbXref OMIM:231050 semapv:UnspecifiedMatching DOID:0111725 geleophysic dysplasia 1 skos:exactMatch OMIM:231050 semapv:UnspecifiedMatching @@ -15151,7 +15463,7 @@ DOID:0111731 familial episodic pain syndrome 3 skos:exactMatch OMIM:615552 semap DOID:0111732 Eiken syndrome oboInOwl:hasDbXref MESH:C564010 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome oboInOwl:hasDbXref ORDO:79106 semapv:UnspecifiedMatching -DOID:0111732 Eiken syndrome oboInOwl:hasDbXref UMLS_CUI:C1838779 semapv:UnspecifiedMatching +DOID:0111732 Eiken syndrome oboInOwl:hasDbXref UMLS:C1838779 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome skos:exactMatch OMIM:600002 semapv:UnspecifiedMatching DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref OMIM:600001 semapv:UnspecifiedMatching DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch OMIM:600001 semapv:UnspecifiedMatching @@ -15228,7 +15540,7 @@ DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref MESH:C536197 DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref NCI:C141423 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref ORDO:555877 semapv:UnspecifiedMatching -DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref UMLS_CUI:C0268341 semapv:UnspecifiedMatching +DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref UMLS:C0268341 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia skos:exactMatch OMIM:314400 semapv:UnspecifiedMatching DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref GARD:8498 semapv:UnspecifiedMatching DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching @@ -15237,14 +15549,14 @@ DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref NCI:C134941 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref OMIM:314050 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref ORDO:231393 semapv:UnspecifiedMatching -DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref UMLS_CUI:C1839161 semapv:UnspecifiedMatching +DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref UMLS:C1839161 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia skos:exactMatch OMIM:314050 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref GARD:9913 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref MESH:C537241 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref OMIM:312060 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref ORDO:2966 semapv:UnspecifiedMatching -DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS_CUI:C0398762 semapv:UnspecifiedMatching -DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS_CUI:C1839454 semapv:UnspecifiedMatching +DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS:C0398762 semapv:UnspecifiedMatching +DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS:C1839454 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency skos:exactMatch OMIM:312060 semapv:UnspecifiedMatching DOID:0111769 46,XY sex reversal 6 oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching DOID:0111769 46,XY sex reversal 6 skos:exactMatch OMIM:613762 semapv:UnspecifiedMatching @@ -15277,7 +15589,7 @@ DOID:0111780 TARP syndrome oboInOwl:hasDbXref GARD:10089 semapv:UnspecifiedMatch DOID:0111780 TARP syndrome oboInOwl:hasDbXref MESH:C536942 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref OMIM:311900 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref ORDO:2886 semapv:UnspecifiedMatching -DOID:0111780 TARP syndrome oboInOwl:hasDbXref UMLS_CUI:C1839463 semapv:UnspecifiedMatching +DOID:0111780 TARP syndrome oboInOwl:hasDbXref UMLS:C1839463 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome skos:exactMatch OMIM:311900 semapv:UnspecifiedMatching DOID:0111781 Waisman syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching DOID:0111781 Waisman syndrome skos:exactMatch OMIM:311510 semapv:UnspecifiedMatching @@ -15287,19 +15599,19 @@ DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref MESH:C536065 se DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref NCI:C118845 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311300 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref ORDO:90650 semapv:UnspecifiedMatching -DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C0265251 semapv:UnspecifiedMatching +DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C0265251 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 skos:exactMatch OMIM:311300 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref GARD:5802 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538089 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref OMIM:304120 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref ORDO:90652 semapv:UnspecifiedMatching -DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref UMLS_CUI:C1844696 semapv:UnspecifiedMatching +DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C1844696 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 skos:exactMatch OMIM:304120 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref GARD:826 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref MESH:C538064 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref OMIMPS:305620 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref ORDO:1826 semapv:UnspecifiedMatching -DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0265293 semapv:UnspecifiedMatching +DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265293 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia skos:exactMatch OMIMPS:305620 semapv:UnspecifiedMatching DOID:0111786 frontometaphyseal dysplasia 1 oboInOwl:hasDbXref OMIM:305620 semapv:UnspecifiedMatching DOID:0111786 frontometaphyseal dysplasia 1 skos:exactMatch OMIM:305620 semapv:UnspecifiedMatching @@ -15310,13 +15622,13 @@ DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref MEDDRA:10060908 semapv: DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref MESH:D010009 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref OMIM:309350 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref ORDO:1826 semapv:UnspecifiedMatching -DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref UMLS_CUI:C0025237 semapv:UnspecifiedMatching +DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref UMLS:C0025237 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome skos:exactMatch OMIM:309350 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref GARD:5138 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref MESH:C537274 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref ORDO:137834 semapv:UnspecifiedMatching -DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS_CUI:C1855305 semapv:UnspecifiedMatching +DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS:C1855305 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome skos:exactMatch OMIM:249420 semapv:UnspecifiedMatching DOID:0111790 congenital nystagmus 1 oboInOwl:hasDbXref GARD:2969 semapv:UnspecifiedMatching DOID:0111790 congenital nystagmus 1 oboInOwl:hasDbXref OMIM:310700 semapv:UnspecifiedMatching @@ -15343,7 +15655,7 @@ DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref GARD:87 semapv:Unspec DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref OMIM:309800 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:568 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:85275 semapv:UnspecifiedMatching -DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref UMLS_CUI:C1844948 semapv:UnspecifiedMatching +DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref UMLS:C1844948 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch MESH:C537464 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch MESH:C564457 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch OMIM:309800 semapv:UnspecifiedMatching @@ -15354,7 +15666,7 @@ DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref GARD:1443 semapv:Unsp DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref MESH:C565948 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref OMIM:206900 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref ORDO:77298 semapv:UnspecifiedMatching -DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref UMLS_CUI:C1859773 semapv:UnspecifiedMatching +DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref UMLS:C1859773 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 skos:exactMatch OMIM:206900 semapv:UnspecifiedMatching DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref ORDO:424099 semapv:UnspecifiedMatching @@ -15363,7 +15675,7 @@ DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref GARD:3693 semapv:Unsp DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref MESH:C537686 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref OMIM:601349 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref ORDO:3434 semapv:UnspecifiedMatching -DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref UMLS_CUI:C1832440 semapv:UnspecifiedMatching +DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref UMLS:C1832440 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 skos:exactMatch OMIM:601349 semapv:UnspecifiedMatching DOID:0111804 syndromic microphthalmia 11 oboInOwl:hasDbXref OMIM:614402 semapv:UnspecifiedMatching DOID:0111804 syndromic microphthalmia 11 skos:exactMatch OMIM:614402 semapv:UnspecifiedMatching @@ -15371,18 +15683,18 @@ DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref GARD:3645 semapv:Unsp DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref MESH:C566440 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref OMIM:607932 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref ORDO:139471 semapv:UnspecifiedMatching -DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref UMLS_CUI:C1864689 semapv:UnspecifiedMatching +DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref UMLS:C1864689 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 skos:exactMatch OMIM:607932 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref GARD:3692 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref MESH:C566441 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref ORDO:178364 semapv:UnspecifiedMatching -DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref UMLS_CUI:C1864690 semapv:UnspecifiedMatching +DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref UMLS:C1864690 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 skos:exactMatch OMIM:610125 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref MESH:C537768 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref ORDO:2470 semapv:UnspecifiedMatching -DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref UMLS_CUI:C1832661 semapv:UnspecifiedMatching +DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref UMLS:C1832661 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 skos:exactMatch OMIM:601186 semapv:UnspecifiedMatching DOID:0111808 linear skin defects with multiple congenital anomalies 1 oboInOwl:hasDbXref MESH:C537466 semapv:UnspecifiedMatching DOID:0111808 linear skin defects with multiple congenital anomalies 1 oboInOwl:hasDbXref OMIM:309801 semapv:UnspecifiedMatching @@ -15391,7 +15703,7 @@ DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref GARD:4628 semapv:Unsp DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref MESH:C537465 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref ORDO:2712 semapv:UnspecifiedMatching -DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref UMLS_CUI:C1846265 semapv:UnspecifiedMatching +DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref UMLS:C1846265 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 skos:exactMatch OMIM:300166 semapv:UnspecifiedMatching DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref ORDO:431140 semapv:UnspecifiedMatching @@ -15404,7 +15716,7 @@ DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref GARD:3559 semapv:UnspecifiedMa DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref MESH:C564100 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref ORDO:2498 semapv:UnspecifiedMatching -DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref UMLS_CUI:C1839728 semapv:UnspecifiedMatching +DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref UMLS:C1839728 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 skos:exactMatch OMIM:309630 semapv:UnspecifiedMatching DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type oboInOwl:hasDbXref OMIM:309541 semapv:UnspecifiedMatching DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type oboInOwl:hasDbXref ORDO:369962 semapv:UnspecifiedMatching @@ -15419,19 +15731,19 @@ DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref GARD:5088 semapv:UnspecifiedMa DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref OMIM:186100 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref ORDO:93404 semapv:UnspecifiedMatching -DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref UMLS_CUI:C1861366 semapv:UnspecifiedMatching +DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref UMLS:C1861366 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 skos:exactMatch OMIM:186100 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref GARD:4434 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref MESH:C566092 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref ORDO:93405 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref UMLS_CUI:C1861355 semapv:UnspecifiedMatching +DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref UMLS:C1861355 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 skos:exactMatch OMIM:186200 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref GARD:5089 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref MESH:C538155 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref OMIM:186300 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref ORDO:93406 semapv:UnspecifiedMatching -DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref UMLS_CUI:C1861348 semapv:UnspecifiedMatching +DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref UMLS:C1861348 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 skos:exactMatch OMIM:186300 semapv:UnspecifiedMatching DOID:0111820 zygodactyly 1 oboInOwl:hasDbXref MESH:C565223 semapv:UnspecifiedMatching DOID:0111820 zygodactyly 1 oboInOwl:hasDbXref OMIM:609815 semapv:UnspecifiedMatching @@ -15440,13 +15752,13 @@ DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:ha DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref ORDO:2273 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C1839988 semapv:UnspecifiedMatching +DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref UMLS:C1839988 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 skos:exactMatch OMIM:308205 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref GARD:6039 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref MESH:C562515 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref ORDO:139 semapv:UnspecifiedMatching -DOID:0111822 CHILD syndrome oboInOwl:hasDbXref UMLS_CUI:C0265267 semapv:UnspecifiedMatching +DOID:0111822 CHILD syndrome oboInOwl:hasDbXref UMLS:C0265267 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome skos:exactMatch OMIM:308050 semapv:UnspecifiedMatching DOID:0111823 autosomal hemophilia A oboInOwl:hasDbXref OMIM:134500 semapv:UnspecifiedMatching DOID:0111823 autosomal hemophilia A skos:exactMatch OMIM:134500 semapv:UnspecifiedMatching @@ -15457,13 +15769,13 @@ DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref GARD:360 semapv:Unspec DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MESH:C535559 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref OMIM:302905 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref ORDO:921 semapv:UnspecifiedMatching -DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS_CUI:C1844862 semapv:UnspecifiedMatching +DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS:C1844862 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome skos:exactMatch OMIM:302905 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref GARD:8521 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref MESH:C535380 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:301830 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:1145 semapv:UnspecifiedMatching -DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1844934 semapv:UnspecifiedMatching +DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS:C1844934 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 skos:exactMatch OMIM:301830 semapv:UnspecifiedMatching DOID:0111828 X-linked cerebellar ataxia oboInOwl:hasDbXref ORDO:247765 semapv:UnspecifiedMatching DOID:0111829 X-linked spinocerebellar ataxia 1 oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching @@ -15485,12 +15797,12 @@ DOID:0111832 X-linked spinocerebellar ataxia 4 skos:exactMatch OMIM:301840 semap DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref MESH:C567478 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref ORDO:314978 semapv:UnspecifiedMatching -DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref UMLS_CUI:C2678048 semapv:UnspecifiedMatching +DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref UMLS:C2678048 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 skos:exactMatch OMIM:300703 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref MESH:C564461 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ORDO:85453 semapv:UnspecifiedMatching -DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS_CUI:C1845050 semapv:UnspecifiedMatching +DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C1845050 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder skos:exactMatch OMIM:301220 semapv:UnspecifiedMatching DOID:0111835 congenital nongoitrous hypothyroidism 9 oboInOwl:hasDbXref OMIM:301035 semapv:UnspecifiedMatching DOID:0111835 congenital nongoitrous hypothyroidism 9 skos:exactMatch OMIM:301035 semapv:UnspecifiedMatching @@ -15513,7 +15825,7 @@ DOID:0111842 Keipert syndrome oboInOwl:hasDbXref MESH:C538337 semapv:Unspecified DOID:0111842 Keipert syndrome oboInOwl:hasDbXref NCI:C186306 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref OMIM:301026 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref ORDO:2662 semapv:UnspecifiedMatching -DOID:0111842 Keipert syndrome oboInOwl:hasDbXref UMLS_CUI:C1850627 semapv:UnspecifiedMatching +DOID:0111842 Keipert syndrome oboInOwl:hasDbXref UMLS:C1850627 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome skos:exactMatch OMIM:301026 semapv:UnspecifiedMatching DOID:0111843 Paganini-Miozzo syndrome oboInOwl:hasDbXref OMIM:301025 semapv:UnspecifiedMatching DOID:0111843 Paganini-Miozzo syndrome skos:exactMatch OMIM:301025 semapv:UnspecifiedMatching @@ -15552,7 +15864,7 @@ DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephroc DOID:0111860 AMME complex oboInOwl:hasDbXref MESH:C564570 semapv:UnspecifiedMatching DOID:0111860 AMME complex oboInOwl:hasDbXref OMIM:300194 semapv:UnspecifiedMatching DOID:0111860 AMME complex oboInOwl:hasDbXref ORDO:86818 semapv:UnspecifiedMatching -DOID:0111860 AMME complex oboInOwl:hasDbXref UMLS_CUI:C1846242 semapv:UnspecifiedMatching +DOID:0111860 AMME complex oboInOwl:hasDbXref UMLS:C1846242 semapv:UnspecifiedMatching DOID:0111860 AMME complex skos:exactMatch OMIM:300194 semapv:UnspecifiedMatching DOID:0111861 Meester-Loeys syndrome oboInOwl:hasDbXref OMIM:300989 semapv:UnspecifiedMatching DOID:0111861 Meester-Loeys syndrome skos:exactMatch OMIM:300989 semapv:UnspecifiedMatching @@ -15563,13 +15875,13 @@ DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ob DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens skos:exactMatch OMIM:277180 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome oboInOwl:hasDbXref OMIM:300960 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome oboInOwl:hasDbXref ORDO:401973 semapv:UnspecifiedMatching -DOID:0111865 MEND syndrome oboInOwl:hasDbXref UMLS_CUI:C4085243 semapv:UnspecifiedMatching +DOID:0111865 MEND syndrome oboInOwl:hasDbXref UMLS:C4085243 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome skos:exactMatch OMIM:300960 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref NCI:C4924 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref OMIMPS:601675 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref ORDO:33364 semapv:UnspecifiedMatching -DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref UMLS_CUI:C1955934 semapv:UnspecifiedMatching +DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref UMLS:C1955934 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy skos:exactMatch OMIMPS:601675 semapv:UnspecifiedMatching DOID:0111868 nonphotosensitive trichothiodystrophy 5 oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching DOID:0111868 nonphotosensitive trichothiodystrophy 5 oboInOwl:hasDbXref NCI:C156433 semapv:UnspecifiedMatching @@ -15648,51 +15960,51 @@ DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis oboInOwl DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 semapv:UnspecifiedMatching DOID:0111898 CK syndrome oboInOwl:hasDbXref OMIM:300831 semapv:UnspecifiedMatching DOID:0111898 CK syndrome oboInOwl:hasDbXref ORDO:251383 semapv:UnspecifiedMatching -DOID:0111898 CK syndrome oboInOwl:hasDbXref UMLS_CUI:C3151781 semapv:UnspecifiedMatching +DOID:0111898 CK syndrome oboInOwl:hasDbXref UMLS:C3151781 semapv:UnspecifiedMatching DOID:0111898 CK syndrome skos:exactMatch OMIM:300831 semapv:UnspecifiedMatching DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref MESH:C567581 semapv:UnspecifiedMatching DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref OMIM:300807 semapv:UnspecifiedMatching -DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref UMLS_CUI:C2749016 semapv:UnspecifiedMatching +DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref UMLS:C2749016 semapv:UnspecifiedMatching DOID:0111899 X-linked thrombophilia due to factor IX defect skos:exactMatch OMIM:300807 semapv:UnspecifiedMatching DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref OMIM:612336 semapv:UnspecifiedMatching -DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C3278211 semapv:UnspecifiedMatching +DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS:C3278211 semapv:UnspecifiedMatching DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency skos:exactMatch OMIM:612336 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref MESH:C562865 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref OMIM:612356 semapv:UnspecifiedMatching -DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref UMLS_CUI:C0398626 semapv:UnspecifiedMatching +DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref UMLS:C0398626 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency skos:exactMatch OMIM:612356 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref MESH:C566056 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref OMIM:188055 semapv:UnspecifiedMatching -DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref UMLS_CUI:C1861171 semapv:UnspecifiedMatching +DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref UMLS:C1861171 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance skos:exactMatch OMIM:188055 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref OMIM:613116 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref ORDO:217467 semapv:UnspecifiedMatching -DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref UMLS_CUI:C2751090 semapv:UnspecifiedMatching +DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref UMLS:C2751090 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency skos:exactMatch OMIM:613116 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref MESH:C567353 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref OMIM:612304 semapv:UnspecifiedMatching -DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C2676759 semapv:UnspecifiedMatching +DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS:C2676759 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency skos:exactMatch OMIM:612304 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref OMIM:614514 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref ORDO:743 semapv:UnspecifiedMatching -DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C3281092 semapv:UnspecifiedMatching +DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS:C3281092 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency skos:exactMatch OMIM:614514 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref MESH:C567341 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref OMIM:612348 semapv:UnspecifiedMatching -DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref UMLS_CUI:C2676721 semapv:UnspecifiedMatching +DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref UMLS:C2676721 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT skos:exactMatch OMIM:612348 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref GARD:10815 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref OMIM:188050 semapv:UnspecifiedMatching -DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref UMLS_CUI:C3160733 semapv:UnspecifiedMatching +DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref UMLS:C3160733 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect skos:exactMatch OMIM:188050 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref MESH:C566057 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref OMIM:614486 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref ORDO:436169 semapv:UnspecifiedMatching -DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref UMLS_CUI:C3280976 semapv:UnspecifiedMatching +DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref UMLS:C3280976 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect skos:exactMatch OMIM:614486 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref MESH:C567163 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref OMIM:176860 semapv:UnspecifiedMatching -DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C2674321 semapv:UnspecifiedMatching +DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS:C2674321 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency skos:exactMatch OMIM:176860 semapv:UnspecifiedMatching DOID:0111910 spermatogenic failure oboInOwl:hasDbXref OMIMPS:258150 semapv:UnspecifiedMatching DOID:0111910 spermatogenic failure skos:exactMatch OMIMPS:258150 semapv:UnspecifiedMatching @@ -15740,46 +16052,46 @@ DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref MESH:C567475 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref OMIM:300707 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ORDO:140952 semapv:UnspecifiedMatching -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS_CUI:C2678045 semapv:UnspecifiedMatching +DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS:C2678045 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch OMIM:300707 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref MESH:C566878 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref NCI:C132293 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref ORDO:209370 semapv:UnspecifiedMatching -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref UMLS_CUI:C1968556 semapv:UnspecifiedMatching +DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref UMLS:C1968556 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation skos:exactMatch OMIM:300673 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref GARD:7389 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref MESH:C567067 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref NCI:C126738 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ORDO:713 semapv:UnspecifiedMatching -DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS_CUI:C1970848 semapv:UnspecifiedMatching +DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS:C1970848 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency skos:exactMatch OMIM:300653 semapv:UnspecifiedMatching DOID:0111934 immunodeficiency 38 oboInOwl:hasDbXref OMIM:616126 semapv:UnspecifiedMatching DOID:0111934 immunodeficiency 38 oboInOwl:hasDbXref ORDO:319563 semapv:UnspecifiedMatching DOID:0111934 immunodeficiency 38 skos:exactMatch OMIM:616126 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref ORDO:431149 semapv:UnspecifiedMatching -DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref UMLS_CUI:C3810053 semapv:UnspecifiedMatching +DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref UMLS:C3810053 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 skos:exactMatch OMIM:615593 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref GARD:11983 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref MESH:C585640 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref NCI:C187988 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref ORDO:397596 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref UMLS_CUI:C3714976 semapv:UnspecifiedMatching +DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref UMLS:C3714976 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 skos:exactMatch OMIM:615513 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref NCI:C176808 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref OMIM:615758 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref ORDO:280142 semapv:UnspecifiedMatching -DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref UMLS_CUI:C4014233 semapv:UnspecifiedMatching +DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref UMLS:C4014233 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 skos:exactMatch OMIM:615758 semapv:UnspecifiedMatching DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref OMIM:615897 semapv:UnspecifiedMatching DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref ORDO:420573 semapv:UnspecifiedMatching -DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref UMLS_CUI:C4014617 semapv:UnspecifiedMatching +DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref UMLS:C4014617 semapv:UnspecifiedMatching DOID:0111938 immunodeficiency 24 skos:exactMatch OMIM:615897 semapv:UnspecifiedMatching DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref OMIM:616098 semapv:UnspecifiedMatching -DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref UMLS_CUI:C4015195 semapv:UnspecifiedMatching +DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref UMLS:C4015195 semapv:UnspecifiedMatching DOID:0111939 immunodeficiency 37 skos:exactMatch OMIM:616098 semapv:UnspecifiedMatching DOID:0111940 immunodeficiency 42 oboInOwl:hasDbXref OMIM:616622 semapv:UnspecifiedMatching DOID:0111940 immunodeficiency 42 oboInOwl:hasDbXref ORDO:477857 semapv:UnspecifiedMatching @@ -15789,13 +16101,13 @@ DOID:0111941 immunodeficiency 20 oboInOwl:hasDbXref ORDO:437552 semapv:Unspecifi DOID:0111941 immunodeficiency 20 skos:exactMatch OMIM:615707 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref MESH:C565712 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref OMIM:610163 semapv:UnspecifiedMatching -DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref UMLS_CUI:C1857798 semapv:UnspecifiedMatching +DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref UMLS:C1857798 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 skos:exactMatch OMIM:610163 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref GARD:387 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref MESH:C537590 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref OMIM:269840 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref ORDO:911 semapv:UnspecifiedMatching -DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref UMLS_CUI:C1849236 semapv:UnspecifiedMatching +DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref UMLS:C1849236 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 skos:exactMatch OMIM:269840 semapv:UnspecifiedMatching DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref ORDO:391311 semapv:UnspecifiedMatching @@ -15814,11 +16126,11 @@ DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref ORDO:228423 semapv:Unspecifi DOID:0111947 immunodeficiency 21 skos:exactMatch OMIM:614172 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref OMIM:616740 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref ORDO:476113 semapv:UnspecifiedMatching -DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref UMLS_CUI:C5568133 semapv:UnspecifiedMatching +DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref UMLS:C5568133 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 skos:exactMatch OMIM:616740 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref NCI:C176703 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref OMIM:616005 semapv:UnspecifiedMatching -DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref UMLS_CUI:C4014934 semapv:UnspecifiedMatching +DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref UMLS:C4014934 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 skos:exactMatch OMIM:616005 semapv:UnspecifiedMatching DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref OMIM:614890 semapv:UnspecifiedMatching DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref ORDO:319558 semapv:UnspecifiedMatching @@ -15827,7 +16139,7 @@ DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref GARD:12653 semapv:Unspecifie DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref NCI:C176799 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref OMIM:616433 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref ORDO:447737 semapv:UnspecifiedMatching -DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref UMLS_CUI:C4225328 semapv:UnspecifiedMatching +DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref UMLS:C4225328 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 skos:exactMatch OMIM:616433 semapv:UnspecifiedMatching DOID:0111952 immunodeficiency 57 oboInOwl:hasDbXref OMIM:618108 semapv:UnspecifiedMatching DOID:0111952 immunodeficiency 57 oboInOwl:hasDbXref ORDO:529977 semapv:UnspecifiedMatching @@ -15836,10 +16148,10 @@ DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref GARD:4331 semapv:Unspecified DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref NCI:C126339 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref ORDO:443811 semapv:UnspecifiedMatching -DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref UMLS_CUI:C4014371 semapv:UnspecifiedMatching +DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref UMLS:C4014371 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 skos:exactMatch OMIM:615816 semapv:UnspecifiedMatching DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref OMIM:618394 semapv:UnspecifiedMatching -DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref UMLS_CUI:C5193072 semapv:UnspecifiedMatching +DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref UMLS:C5193072 semapv:UnspecifiedMatching DOID:0111954 immunodeficiency 60 skos:exactMatch OMIM:618394 semapv:UnspecifiedMatching DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref MESH:C535530 semapv:UnspecifiedMatching DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching @@ -15850,29 +16162,29 @@ DOID:0111956 immunodeficiency 27B oboInOwl:hasDbXref ORDO:319581 semapv:Unspecif DOID:0111956 immunodeficiency 27B skos:exactMatch OMIM:615978 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref OMIM:615206 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref ORDO:357237 semapv:UnspecifiedMatching -DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref UMLS_CUI:C3554686 semapv:UnspecifiedMatching +DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref UMLS:C3554686 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A skos:exactMatch OMIM:615206 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref NCI:C176630 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref OMIM:617638 semapv:UnspecifiedMatching -DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref UMLS_CUI:C4539957 semapv:UnspecifiedMatching +DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref UMLS:C4539957 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B skos:exactMatch OMIM:617638 semapv:UnspecifiedMatching DOID:0111959 immunodeficiency 15B oboInOwl:hasDbXref OMIM:615592 semapv:UnspecifiedMatching -DOID:0111959 immunodeficiency 15B oboInOwl:hasDbXref UMLS_CUI:C4747743 semapv:UnspecifiedMatching +DOID:0111959 immunodeficiency 15B oboInOwl:hasDbXref UMLS:C4747743 semapv:UnspecifiedMatching DOID:0111959 immunodeficiency 15B skos:exactMatch OMIM:615592 semapv:UnspecifiedMatching DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref OMIM:618204 semapv:UnspecifiedMatching -DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref UMLS_CUI:C4748694 semapv:UnspecifiedMatching +DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref UMLS:C4748694 semapv:UnspecifiedMatching DOID:0111960 immunodeficiency 15A skos:exactMatch OMIM:618204 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref NCI:C176795 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref OMIM:615966 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref ORDO:317425 semapv:UnspecifiedMatching -DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref UMLS_CUI:C4014833 semapv:UnspecifiedMatching +DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref UMLS:C4014833 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 skos:exactMatch OMIM:615966 semapv:UnspecifiedMatching DOID:0111962 combined immunodeficiency oboInOwl:hasDbXref NCI:C27871 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref MESH:C566492 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref NCI:C123729 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref OMIM:609981 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref ORDO:75391 semapv:UnspecifiedMatching -DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref UMLS_CUI:C1864947 semapv:UnspecifiedMatching +DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref UMLS:C1864947 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 skos:exactMatch OMIM:609981 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref MESH:C565232 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref OMIM:606367 semapv:UnspecifiedMatching @@ -15883,35 +16195,35 @@ DOID:0111969 immunodeficiency 39 skos:exactMatch OMIM:616345 semapv:UnspecifiedM DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref MESH:C557827 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref ORDO:317430 semapv:UnspecifiedMatching -DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref UMLS_CUI:C2748557 semapv:UnspecifiedMatching +DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref UMLS:C2748557 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 skos:exactMatch OMIM:612783 semapv:UnspecifiedMatching DOID:0111971 immunodeficiency 18 oboInOwl:hasDbXref OMIM:615615 semapv:UnspecifiedMatching DOID:0111971 immunodeficiency 18 skos:exactMatch OMIM:615615 semapv:UnspecifiedMatching DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref OMIM:615617 semapv:UnspecifiedMatching -DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref UMLS_CUI:C3810147 semapv:UnspecifiedMatching +DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref UMLS:C3810147 semapv:UnspecifiedMatching DOID:0111972 immunodeficiency 19 skos:exactMatch OMIM:615617 semapv:UnspecifiedMatching DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref OMIM:615607 semapv:UnspecifiedMatching -DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref UMLS_CUI:C3810107 semapv:UnspecifiedMatching +DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref UMLS:C3810107 semapv:UnspecifiedMatching DOID:0111973 immunodeficiency 17 skos:exactMatch OMIM:615607 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref MESH:C565535 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref OMIM:233600 semapv:UnspecifiedMatching -DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref UMLS_CUI:C1856263 semapv:UnspecifiedMatching +DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref UMLS:C1856263 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 skos:exactMatch OMIM:233600 semapv:UnspecifiedMatching DOID:0111975 immunodeficiency 44 oboInOwl:hasDbXref OMIM:616636 semapv:UnspecifiedMatching DOID:0111975 immunodeficiency 44 skos:exactMatch OMIM:616636 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref MESH:C557826 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref ORDO:317428 semapv:UnspecifiedMatching -DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref UMLS_CUI:C2748568 semapv:UnspecifiedMatching +DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref UMLS:C2748568 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 skos:exactMatch OMIM:612782 semapv:UnspecifiedMatching DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref ORDO:397959 semapv:UnspecifiedMatching -DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref UMLS_CUI:C3809332 semapv:UnspecifiedMatching +DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref UMLS:C3809332 semapv:UnspecifiedMatching DOID:0111977 immunodeficiency 7 skos:exactMatch OMIM:615387 semapv:UnspecifiedMatching DOID:0111978 immunodeficiency 65 oboInOwl:hasDbXref OMIM:618648 semapv:UnspecifiedMatching DOID:0111978 immunodeficiency 65 skos:exactMatch OMIM:618648 semapv:UnspecifiedMatching DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref OMIM:617237 semapv:UnspecifiedMatching -DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref UMLS_CUI:C4310656 semapv:UnspecifiedMatching +DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref UMLS:C4310656 semapv:UnspecifiedMatching DOID:0111979 immunodeficiency 49 skos:exactMatch OMIM:617237 semapv:UnspecifiedMatching DOID:0111980 immunodeficiency 64 oboInOwl:hasDbXref OMIM:618534 semapv:UnspecifiedMatching DOID:0111980 immunodeficiency 64 skos:exactMatch OMIM:618534 semapv:UnspecifiedMatching @@ -15920,27 +16232,27 @@ DOID:0111981 immunodeficiency 43 oboInOwl:hasDbXref OMIM:241600 semapv:Unspecifi DOID:0111981 immunodeficiency 43 skos:exactMatch OMIM:241600 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref OMIM:615207 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref ORDO:357329 semapv:UnspecifiedMatching -DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref UMLS_CUI:C3554687 semapv:UnspecifiedMatching +DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref UMLS:C3554687 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 skos:exactMatch OMIM:615207 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref OMIM:617514 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref ORDO:504523 semapv:UnspecifiedMatching -DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref UMLS_CUI:C4479588 semapv:UnspecifiedMatching +DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref UMLS:C4479588 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 skos:exactMatch OMIM:617514 semapv:UnspecifiedMatching DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref ORDO:542301 semapv:UnspecifiedMatching -DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref UMLS_CUI:C4748304 semapv:UnspecifiedMatching +DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref UMLS:C4748304 semapv:UnspecifiedMatching DOID:0111984 immunodeficiency 58 skos:exactMatch OMIM:618131 semapv:UnspecifiedMatching DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref OMIM:226990 semapv:UnspecifiedMatching -DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref UMLS_CUI:C4016741 semapv:UnspecifiedMatching +DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref UMLS:C4016741 semapv:UnspecifiedMatching DOID:0111985 immunodeficiency 32B skos:exactMatch OMIM:226990 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref OMIM:614893 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref ORDO:319600 semapv:UnspecifiedMatching -DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref UMLS_CUI:C3808589 semapv:UnspecifiedMatching +DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref UMLS:C3808589 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A skos:exactMatch OMIM:614893 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref GARD:12375 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref ORDO:228000 semapv:UnspecifiedMatching -DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref UMLS_CUI:C3809768 semapv:UnspecifiedMatching +DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref UMLS:C3809768 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 skos:exactMatch OMIM:615518 semapv:UnspecifiedMatching DOID:0111988 immunodeficiency 12 oboInOwl:hasDbXref OMIM:615468 semapv:UnspecifiedMatching DOID:0111988 immunodeficiency 12 oboInOwl:hasDbXref ORDO:397964 semapv:UnspecifiedMatching @@ -15952,13 +16264,13 @@ DOID:0111989 immunodeficiency 35 skos:exactMatch OMIM:611521 semapv:UnspecifiedM DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref NCI:C176800 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref OMIM:614891 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref ORDO:319552 semapv:UnspecifiedMatching -DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref UMLS_CUI:C4013949 semapv:UnspecifiedMatching +DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref UMLS:C4013949 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 skos:exactMatch OMIM:614891 semapv:UnspecifiedMatching DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref OMIM:618459 semapv:UnspecifiedMatching -DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref UMLS_CUI:C5193109 semapv:UnspecifiedMatching +DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref UMLS:C5193109 semapv:UnspecifiedMatching DOID:0111991 immunodeficiency 62 skos:exactMatch OMIM:618459 semapv:UnspecifiedMatching DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref OMIM:617585 semapv:UnspecifiedMatching -DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref UMLS_CUI:C4539811 semapv:UnspecifiedMatching +DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref UMLS:C4539811 semapv:UnspecifiedMatching DOID:0111992 immunodeficiency 53 skos:exactMatch OMIM:617585 semapv:UnspecifiedMatching DOID:0111993 immunodeficiency 55 oboInOwl:hasDbXref OMIM:617827 semapv:UnspecifiedMatching DOID:0111993 immunodeficiency 55 oboInOwl:hasDbXref ORDO:505227 semapv:UnspecifiedMatching @@ -15971,23 +16283,23 @@ DOID:0111995 immunodeficiency 28 skos:exactMatch OMIM:614889 semapv:UnspecifiedM DOID:0111996 immunodeficiency 51 oboInOwl:hasDbXref OMIM:613953 semapv:UnspecifiedMatching DOID:0111996 immunodeficiency 51 skos:exactMatch OMIM:613953 semapv:UnspecifiedMatching DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref OMIM:618495 semapv:UnspecifiedMatching -DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref UMLS_CUI:C5193126 semapv:UnspecifiedMatching +DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref UMLS:C5193126 semapv:UnspecifiedMatching DOID:0111997 immunodeficiency 63 skos:exactMatch OMIM:618495 semapv:UnspecifiedMatching DOID:0111998 immunodeficiency 66 oboInOwl:hasDbXref OMIM:618847 semapv:UnspecifiedMatching DOID:0111998 immunodeficiency 66 skos:exactMatch OMIM:618847 semapv:UnspecifiedMatching DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref MESH:C538057 semapv:UnspecifiedMatching DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching -DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref UMLS_CUI:C1845903 semapv:UnspecifiedMatching +DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref UMLS:C1845903 semapv:UnspecifiedMatching DOID:0111999 immunodeficiency 61 skos:exactMatch OMIM:300310 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref MESH:C567068 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching -DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref UMLS_CUI:C1970859 semapv:UnspecifiedMatching +DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref UMLS:C1970859 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 skos:exactMatch OMIM:300645 semapv:UnspecifiedMatching DOID:0112001 immunodeficiency 50 oboInOwl:hasDbXref OMIM:300988 semapv:UnspecifiedMatching DOID:0112001 immunodeficiency 50 oboInOwl:hasDbXref ORDO:504530 semapv:UnspecifiedMatching DOID:0112001 immunodeficiency 50 skos:exactMatch OMIM:300988 semapv:UnspecifiedMatching DOID:0112002 immunodeficiency 47 oboInOwl:hasDbXref OMIM:300972 semapv:UnspecifiedMatching -DOID:0112002 immunodeficiency 47 oboInOwl:hasDbXref UMLS_CUI:C4310819 semapv:UnspecifiedMatching +DOID:0112002 immunodeficiency 47 oboInOwl:hasDbXref UMLS:C4310819 semapv:UnspecifiedMatching DOID:0112002 immunodeficiency 47 skos:exactMatch OMIM:300972 semapv:UnspecifiedMatching DOID:0112003 immunodeficiency 33 oboInOwl:hasDbXref MESH:C567070 semapv:UnspecifiedMatching DOID:0112003 immunodeficiency 33 oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching @@ -16122,7 +16434,7 @@ DOID:0112063 X-Linked immunodeficiency 74 skos:exactMatch OMIM:301051 semapv:Uns DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref ORDO:183707 semapv:UnspecifiedMatching -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref UMLS_CUI:C1842398 semapv:UnspecifiedMatching +DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref UMLS:C1842398 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch OMIM:608203 semapv:UnspecifiedMatching DOID:0112065 nuclear type mitochondrial complex I deficiency oboInOwl:hasDbXref OMIMPS:252010 semapv:UnspecifiedMatching DOID:0112065 nuclear type mitochondrial complex I deficiency skos:exactMatch OMIMPS:252010 semapv:UnspecifiedMatching @@ -16141,7 +16453,7 @@ DOID:0112071 nuclear type mitochondrial complex I deficiency 31 skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref MESH:C567006 semapv:UnspecifiedMatching DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref OMIM:611126 semapv:UnspecifiedMatching DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref ORDO:99901 semapv:UnspecifiedMatching -DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref UMLS_CUI:C1970173 semapv:UnspecifiedMatching +DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref UMLS:C1970173 semapv:UnspecifiedMatching DOID:0112072 nuclear type mitochondrial complex I deficiency 20 skos:exactMatch OMIM:611126 semapv:UnspecifiedMatching DOID:0112073 nuclear type mitochondrial complex I deficiency 9 oboInOwl:hasDbXref OMIM:618232 semapv:UnspecifiedMatching DOID:0112073 nuclear type mitochondrial complex I deficiency 9 skos:exactMatch OMIM:618232 semapv:UnspecifiedMatching @@ -16215,7 +16527,7 @@ DOID:0112107 McLeod syndrome oboInOwl:hasDbXref GARD:10731 semapv:UnspecifiedMat DOID:0112107 McLeod syndrome oboInOwl:hasDbXref MESH:C564038 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref ORDO:59306 semapv:UnspecifiedMatching -DOID:0112107 McLeod syndrome oboInOwl:hasDbXref UMLS_CUI:C0398568 semapv:UnspecifiedMatching +DOID:0112107 McLeod syndrome oboInOwl:hasDbXref UMLS:C0398568 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome skos:exactMatch OMIM:300842 semapv:UnspecifiedMatching DOID:0112108 myofibrillar myopathy 10 oboInOwl:hasDbXref OMIM:619040 semapv:UnspecifiedMatching DOID:0112108 myofibrillar myopathy 10 skos:exactMatch OMIM:619040 semapv:UnspecifiedMatching @@ -16248,12 +16560,12 @@ DOID:0112120 SHOX-related short stature skos:exactMatch OMIM:300582 semapv:Unspe DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref MESH:C564491 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ORDO:93606 semapv:UnspecifiedMatching -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS_CUI:C1845202 semapv:UnspecifiedMatching +DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS:C1845202 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch OMIM:300539 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref MESH:C564505 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref OMIM:300491 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref ORDO:85294 semapv:UnspecifiedMatching -DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref UMLS_CUI:C1845343 semapv:UnspecifiedMatching +DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref UMLS:C1845343 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders skos:exactMatch OMIM:300491 semapv:UnspecifiedMatching DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref GARD:12472 semapv:UnspecifiedMatching DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching @@ -16265,7 +16577,7 @@ DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections skos:e DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref MESH:C563023 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref ORDO:231401 semapv:UnspecifiedMatching -DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref UMLS_CUI:C0585216 semapv:UnspecifiedMatching +DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref UMLS:C0585216 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome skos:exactMatch OMIM:300448 semapv:UnspecifiedMatching DOID:0112126 Stocco Dos Santos type X-linked intellectual disability oboInOwl:hasDbXref OMIM:300434 semapv:UnspecifiedMatching DOID:0112126 Stocco Dos Santos type X-linked intellectual disability oboInOwl:hasDbXref ORDO:85288 semapv:UnspecifiedMatching @@ -16278,7 +16590,7 @@ DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C564 DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref NCI:C176818 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref ORDO:86788 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS_CUI:C1845987 semapv:UnspecifiedMatching +DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1845987 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia skos:exactMatch OMIM:300299 semapv:UnspecifiedMatching DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref OMIM:617014 semapv:UnspecifiedMatching DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref ORDO:420702 semapv:UnspecifiedMatching @@ -16330,14 +16642,14 @@ DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome skos:exactMatch OMIM:30 DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref MESH:C564554 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref OMIM:300244 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref ORDO:88630 semapv:UnspecifiedMatching -DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref UMLS_CUI:C1846129 semapv:UnspecifiedMatching +DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref UMLS:C1846129 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia skos:exactMatch OMIM:300244 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref GARD:4979 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref MESH:C564714 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref NCI:C188996 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ORDO:93349 semapv:UnspecifiedMatching -DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1848097 semapv:UnspecifiedMatching +DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1848097 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch OMIM:300106 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref GARD:4528 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300004 semapv:UnspecifiedMatching @@ -16347,7 +16659,7 @@ DOID:0112152 CHIME syndrome oboInOwl:hasDbXref GARD:310 semapv:UnspecifiedMatchi DOID:0112152 CHIME syndrome oboInOwl:hasDbXref MESH:C536729 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome oboInOwl:hasDbXref OMIM:280000 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome oboInOwl:hasDbXref ORDO:3474 semapv:UnspecifiedMatching -DOID:0112152 CHIME syndrome oboInOwl:hasDbXref UMLS_CUI:C1848392 semapv:UnspecifiedMatching +DOID:0112152 CHIME syndrome oboInOwl:hasDbXref UMLS:C1848392 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome skos:exactMatch OMIM:280000 semapv:UnspecifiedMatching DOID:0112153 hypomyelinating leukodystrophy 20 oboInOwl:hasDbXref OMIM:619071 semapv:UnspecifiedMatching DOID:0112153 hypomyelinating leukodystrophy 20 skos:exactMatch OMIM:619071 semapv:UnspecifiedMatching @@ -16365,7 +16677,7 @@ DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref MESH:C535992 semap DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref NCI:C84666 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref OMIM:278800 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref ORDO:1569 semapv:UnspecifiedMatching -DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref UMLS_CUI:C0265201 semapv:UnspecifiedMatching +DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref UMLS:C0265201 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 semapv:UnspecifiedMatching DOID:0112159 autosomal dominant nonsyndromic deafness 78 oboInOwl:hasDbXref OMIM:619081 semapv:UnspecifiedMatching DOID:0112159 autosomal dominant nonsyndromic deafness 78 skos:exactMatch OMIM:619081 semapv:UnspecifiedMatching @@ -16395,13 +16707,13 @@ DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref GARD:273 semapv:Unspecifie DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref MESH:C536750 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref ORDO:2834 semapv:UnspecifiedMatching -DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref UMLS_CUI:C0406587 semapv:UnspecifiedMatching +DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref UMLS:C0406587 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome skos:exactMatch OMIM:278250 semapv:UnspecifiedMatching DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref ORDO:98434 semapv:UnspecifiedMatching -DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS_CUI:C4510617 semapv:UnspecifiedMatching +DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS:C4510617 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref MESH:C564741 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref OMIM:277450 semapv:UnspecifiedMatching -DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref UMLS_CUI:C1848534 semapv:UnspecifiedMatching +DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref UMLS:C1848534 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 skos:exactMatch OMIM:277450 semapv:UnspecifiedMatching DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref MESH:C564393 semapv:UnspecifiedMatching DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref OMIM:607473 semapv:UnspecifiedMatching @@ -16421,7 +16733,7 @@ DOID:0112180 urocanase deficiency oboInOwl:hasDbXref GARD:8539 semapv:Unspecifie DOID:0112180 urocanase deficiency oboInOwl:hasDbXref MESH:C536479 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref OMIM:276880 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref ORDO:210128 semapv:UnspecifiedMatching -DOID:0112180 urocanase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268514 semapv:UnspecifiedMatching +DOID:0112180 urocanase deficiency oboInOwl:hasDbXref UMLS:C0268514 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency skos:exactMatch OMIM:276880 semapv:UnspecifiedMatching DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref GARD:9212 semapv:UnspecifiedMatching DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref OMIM:276820 semapv:UnspecifiedMatching @@ -16471,7 +16783,7 @@ DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:has DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref MESH:C564794 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref OMIM:271665 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref ORDO:93358 semapv:UnspecifiedMatching -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref UMLS_CUI:C1849011 semapv:UnspecifiedMatching +DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref UMLS:C1849011 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type skos:exactMatch OMIM:271665 semapv:UnspecifiedMatching DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref GARD:4982 semapv:UnspecifiedMatching DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref MESH:C562968 semapv:UnspecifiedMatching @@ -16690,7 +17002,7 @@ DOID:0112281 spondyloepiphyseal dysplasia Stanescu type skos:exactMatch OMIM:616 DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref MESH:C564252 semapv:UnspecifiedMatching DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref OMIM:608361 semapv:UnspecifiedMatching DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref ORDO:93283 semapv:UnspecifiedMatching -DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref UMLS_CUI:C1842149 semapv:UnspecifiedMatching +DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref UMLS:C1842149 semapv:UnspecifiedMatching DOID:0112282 spondyloepiphyseal dysplasia Kimberley type skos:exactMatch OMIM:608361 semapv:UnspecifiedMatching DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type oboInOwl:hasDbXref OMIM:618392 semapv:UnspecifiedMatching DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type skos:exactMatch OMIM:618392 semapv:UnspecifiedMatching @@ -16705,7 +17017,7 @@ DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech o DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref MESH:C567128 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref ORDO:163654 semapv:UnspecifiedMatching -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref UMLS_CUI:C2673649 semapv:UnspecifiedMatching +DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref UMLS:C2673649 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech skos:exactMatch OMIM:611717 semapv:UnspecifiedMatching DOID:0112288 spondyloepiphyseal dysplasia Nishimura type oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching DOID:0112288 spondyloepiphyseal dysplasia Nishimura type skos:exactMatch OMIM:618618 semapv:UnspecifiedMatching @@ -16719,7 +17031,7 @@ DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Sprang DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref MESH:C564796 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref OMIM:271620 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref ORDO:163665 semapv:UnspecifiedMatching -DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref UMLS_CUI:C1849053 semapv:UnspecifiedMatching +DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref UMLS:C1849053 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability skos:exactMatch OMIM:271620 semapv:UnspecifiedMatching DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:271600 semapv:UnspecifiedMatching DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda skos:exactMatch OMIM:271600 semapv:UnspecifiedMatching @@ -16731,37 +17043,37 @@ DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref GARD DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref MESH:C535794 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref OMIM:184253 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref ORDO:93316 semapv:UnspecifiedMatching -DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref UMLS_CUI:C1866688 semapv:UnspecifiedMatching +DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref UMLS:C1866688 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type skos:exactMatch OMIM:184253 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref GARD:4991 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref MESH:C535793 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref OMIM:184255 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref ORDO:93315 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref UMLS_CUI:C0432221 semapv:UnspecifiedMatching +DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref UMLS:C0432221 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type skos:exactMatch OMIM:184255 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref GARD:4993 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref MESH:C535798 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref ORDO:93317 semapv:UnspecifiedMatching -DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref UMLS_CUI:C1855229 semapv:UnspecifiedMatching +DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref UMLS:C1855229 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type skos:exactMatch OMIM:250220 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref GARD:8720 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:602271 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ORDO:168549 semapv:UnspecifiedMatching -DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1865695 semapv:UnspecifiedMatching +DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1865695 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia skos:exactMatch OMIM:602271 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref GARD:10647 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref MESH:C563825 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref OMIM:608940 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref ORDO:85167 semapv:UnspecifiedMatching -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref UMLS_CUI:C1837073 semapv:UnspecifiedMatching +DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref UMLS:C1837073 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy skos:exactMatch OMIM:608940 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref GARD:458 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref MESH:C563803 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref OMIM:609052 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref ORDO:168555 semapv:UnspecifiedMatching -DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref UMLS_CUI:C1836862 semapv:UnspecifiedMatching +DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref UMLS:C1836862 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 skos:exactMatch OMIM:609052 semapv:UnspecifiedMatching DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref GARD:4992 semapv:UnspecifiedMatching DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref OMIM:611702 semapv:UnspecifiedMatching @@ -16775,7 +17087,7 @@ DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmor DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref MESH:C535791 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref OMIM:607543 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref ORDO:168552 semapv:UnspecifiedMatching -DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref UMLS_CUI:C1843706 semapv:UnspecifiedMatching +DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref UMLS:C1843706 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism skos:exactMatch OMIM:607543 semapv:UnspecifiedMatching DOID:0112306 Mahvash Disease oboInOwl:hasDbXref GARD:10460 semapv:UnspecifiedMatching DOID:0112306 Mahvash Disease oboInOwl:hasDbXref ORDO:438274 semapv:UnspecifiedMatching @@ -16785,13 +17097,13 @@ DOID:0112307 sarcosinemia oboInOwl:hasDbXref MEDDRA:10059299 semapv:UnspecifiedM DOID:0112307 sarcosinemia oboInOwl:hasDbXref MESH:C537236 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref ORDO:3129 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia oboInOwl:hasDbXref UMLS_CUI:C0268563 semapv:UnspecifiedMatching +DOID:0112307 sarcosinemia oboInOwl:hasDbXref UMLS:C0268563 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia skos:exactMatch OMIM:268900 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref ICD10CM:E22.8 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref MESH:D011629 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref NCI:C113217 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref ORDO:759 semapv:UnspecifiedMatching -DOID:0112308 central precocious puberty oboInOwl:hasDbXref UMLS_CUI:C0342543 semapv:UnspecifiedMatching +DOID:0112308 central precocious puberty oboInOwl:hasDbXref UMLS:C0342543 semapv:UnspecifiedMatching DOID:0112309 central precocious puberty 2 oboInOwl:hasDbXref OMIM:615346 semapv:UnspecifiedMatching DOID:0112309 central precocious puberty 2 skos:exactMatch OMIM:615346 semapv:UnspecifiedMatching DOID:0112310 central precocious puberty 1 oboInOwl:hasDbXref OMIM:176400 semapv:UnspecifiedMatching @@ -16954,22 +17266,22 @@ DOID:0112383 KINSSHIP syndrome oboInOwl:hasDbXref OMIM:619297 semapv:Unspecified DOID:0112383 KINSSHIP syndrome skos:exactMatch OMIM:619297 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD10CM:A00-A09 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD9CM:001-009.99 semapv:UnspecifiedMatching -DOID:100 intestinal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0178238 semapv:UnspecifiedMatching +DOID:100 intestinal infectious disease oboInOwl:hasDbXref UMLS:C0178238 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref ICD10CM:H90.5 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref ICD9CM:389.1 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref MESH:D006319 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref NCI:C26739 semapv:UnspecifiedMatching -DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref UMLS_CUI:C0018784 semapv:UnspecifiedMatching +DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref UMLS:C0018784 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss skos:exactMatch MESH:D006319 semapv:UnspecifiedMatching DOID:10011 thyroid lymphoma oboInOwl:hasDbXref NCI:C5265 semapv:UnspecifiedMatching -DOID:10011 thyroid lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336753 semapv:UnspecifiedMatching +DOID:10011 thyroid lymphoma oboInOwl:hasDbXref UMLS:C1336753 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD10CM:E31.23 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD9CM:258.03 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MESH:D018814 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref NCI:C3227 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ORDO:247709 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS_CUI:C0025269 semapv:UnspecifiedMatching +DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS:C0025269 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B skos:exactMatch OMIM:162300 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref GARD:3829 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10CM:E31.21 semapv:UnspecifiedMatching @@ -16978,153 +17290,153 @@ DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 s DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref NCI:C3225 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ORDO:652 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS_CUI:C0025267 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS:C0025267 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:131100 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref MESH:D004716 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref NCI:C26764 semapv:UnspecifiedMatching -DOID:1002 endometritis oboInOwl:hasDbXref UMLS_CUI:C0014179 semapv:UnspecifiedMatching +DOID:1002 endometritis oboInOwl:hasDbXref UMLS:C0014179 semapv:UnspecifiedMatching DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref ICD10CM:C24.1 semapv:UnspecifiedMatching DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref ICD9CM:156.2 semapv:UnspecifiedMatching DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref NCI:C3536 semapv:UnspecifiedMatching -DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref UMLS_CUI:C0153454 semapv:UnspecifiedMatching +DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref UMLS:C0153454 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref ICD10CM:C17.0 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref ICD9CM:152.0 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref MESH:D004379 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref NCI:C4803 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref NCI:C9328 semapv:UnspecifiedMatching -DOID:10021 duodenum cancer oboInOwl:hasDbXref UMLS_CUI:C0153426 semapv:UnspecifiedMatching -DOID:10021 duodenum cancer oboInOwl:hasDbXref UMLS_CUI:C0541912 semapv:UnspecifiedMatching +DOID:10021 duodenum cancer oboInOwl:hasDbXref UMLS:C0153426 semapv:UnspecifiedMatching +DOID:10021 duodenum cancer oboInOwl:hasDbXref UMLS:C0541912 semapv:UnspecifiedMatching DOID:10022 ampulla of Vater benign neoplasm oboInOwl:hasDbXref NCI:C4443 semapv:UnspecifiedMatching -DOID:10022 ampulla of Vater benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345916 semapv:UnspecifiedMatching +DOID:10022 ampulla of Vater benign neoplasm oboInOwl:hasDbXref UMLS:C0345916 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref ICD10CM:G43.1 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref ICD9CM:346.0 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref MESH:D020325 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref NCI:C117005 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609179 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609670 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref UMLS_CUI:C0154723 semapv:UnspecifiedMatching +DOID:10024 migraine with aura oboInOwl:hasDbXref UMLS:C0154723 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref GARD:8730 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD10CM:A52.11 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD9CM:094.0 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref MESH:D013606 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref NCI:C35057 semapv:UnspecifiedMatching -DOID:10027 tabes dorsalis oboInOwl:hasDbXref UMLS_CUI:C0039223 semapv:UnspecifiedMatching +DOID:10027 tabes dorsalis oboInOwl:hasDbXref UMLS:C0039223 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref ICD10CM:N73.9 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref ICD9CM:614.9 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref MESH:D000292 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref NCI:C3889 semapv:UnspecifiedMatching -DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref UMLS_CUI:C0242172 semapv:UnspecifiedMatching +DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref UMLS:C0242172 semapv:UnspecifiedMatching DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref ICD10CM:J98.2 semapv:UnspecifiedMatching DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref ICD9CM:518.1 semapv:UnspecifiedMatching DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref NCI:C34571 semapv:UnspecifiedMatching -DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref UMLS_CUI:C1370824 semapv:UnspecifiedMatching +DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref UMLS:C1370824 semapv:UnspecifiedMatching DOID:10031 compensatory emphysema oboInOwl:hasDbXref ICD10CM:J98.3 semapv:UnspecifiedMatching DOID:10031 compensatory emphysema oboInOwl:hasDbXref ICD9CM:518.2 semapv:UnspecifiedMatching -DOID:10031 compensatory emphysema oboInOwl:hasDbXref UMLS_CUI:C0155918 semapv:UnspecifiedMatching +DOID:10031 compensatory emphysema oboInOwl:hasDbXref UMLS:C0155918 semapv:UnspecifiedMatching DOID:10032 hyperlucent lung oboInOwl:hasDbXref MESH:D019568 semapv:UnspecifiedMatching -DOID:10032 hyperlucent lung oboInOwl:hasDbXref UMLS_CUI:C0524799 semapv:UnspecifiedMatching +DOID:10032 hyperlucent lung oboInOwl:hasDbXref UMLS:C0524799 semapv:UnspecifiedMatching DOID:10033 cycloplegia oboInOwl:hasDbXref ICD10CM:H52.52 semapv:UnspecifiedMatching DOID:10033 cycloplegia oboInOwl:hasDbXref ICD9CM:367.51 semapv:UnspecifiedMatching -DOID:10033 cycloplegia oboInOwl:hasDbXref UMLS_CUI:C0235238 semapv:UnspecifiedMatching +DOID:10033 cycloplegia oboInOwl:hasDbXref UMLS:C0235238 semapv:UnspecifiedMatching DOID:10034 eye accommodation disease oboInOwl:hasDbXref ICD10CM:H52.5 semapv:UnspecifiedMatching DOID:10034 eye accommodation disease oboInOwl:hasDbXref ICD9CM:367.5 semapv:UnspecifiedMatching -DOID:10034 eye accommodation disease oboInOwl:hasDbXref UMLS_CUI:C0152198 semapv:UnspecifiedMatching +DOID:10034 eye accommodation disease oboInOwl:hasDbXref UMLS:C0152198 semapv:UnspecifiedMatching DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref ICD10CM:A52.2 semapv:UnspecifiedMatching DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref ICD9CM:094.3 semapv:UnspecifiedMatching DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching -DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref UMLS_CUI:C0153167 semapv:UnspecifiedMatching +DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref UMLS:C0153167 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD10CM:A50.40 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD10CM:A50.5 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD9CM:090.4 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD9CM:090.5 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching -DOID:10039 late congenital syphilis oboInOwl:hasDbXref UMLS_CUI:C0153132 semapv:UnspecifiedMatching -DOID:10039 late congenital syphilis oboInOwl:hasDbXref UMLS_CUI:C0153136 semapv:UnspecifiedMatching +DOID:10039 late congenital syphilis oboInOwl:hasDbXref UMLS:C0153132 semapv:UnspecifiedMatching +DOID:10039 late congenital syphilis oboInOwl:hasDbXref UMLS:C0153136 semapv:UnspecifiedMatching DOID:10040 malignant eyelid melanoma oboInOwl:hasDbXref NCI:C4358 semapv:UnspecifiedMatching -DOID:10040 malignant eyelid melanoma oboInOwl:hasDbXref UMLS_CUI:C0339116 semapv:UnspecifiedMatching +DOID:10040 malignant eyelid melanoma oboInOwl:hasDbXref UMLS:C0339116 semapv:UnspecifiedMatching DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref GARD:9281 semapv:UnspecifiedMatching DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref MESH:D004416 semapv:UnspecifiedMatching -DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref UMLS_CUI:C0205747 semapv:UnspecifiedMatching +DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref UMLS:C0205747 semapv:UnspecifiedMatching DOID:10041 dysplastic nevus syndrome skos:exactMatch MESH:D004416 semapv:UnspecifiedMatching DOID:10044 balloon cell malignant melanoma oboInOwl:hasDbXref NCI:C4227 semapv:UnspecifiedMatching -DOID:10044 balloon cell malignant melanoma oboInOwl:hasDbXref UMLS_CUI:C0334426 semapv:UnspecifiedMatching +DOID:10044 balloon cell malignant melanoma oboInOwl:hasDbXref UMLS:C0334426 semapv:UnspecifiedMatching DOID:10047 nodular malignant melanoma oboInOwl:hasDbXref GARD:9961 semapv:UnspecifiedMatching DOID:10047 nodular malignant melanoma oboInOwl:hasDbXref NCI:C4225 semapv:UnspecifiedMatching -DOID:10047 nodular malignant melanoma oboInOwl:hasDbXref UMLS_CUI:C0334424 semapv:UnspecifiedMatching +DOID:10047 nodular malignant melanoma oboInOwl:hasDbXref UMLS:C0334424 semapv:UnspecifiedMatching DOID:1005 endometrial disease oboInOwl:hasDbXref NCI:C3504 semapv:UnspecifiedMatching -DOID:1005 endometrial disease oboInOwl:hasDbXref UMLS_CUI:C0151622 semapv:UnspecifiedMatching +DOID:1005 endometrial disease oboInOwl:hasDbXref UMLS:C0151622 semapv:UnspecifiedMatching DOID:10054 skin amelanotic melanoma oboInOwl:hasDbXref NCI:C4633 semapv:UnspecifiedMatching -DOID:10054 skin amelanotic melanoma oboInOwl:hasDbXref UMLS_CUI:C0349515 semapv:UnspecifiedMatching +DOID:10054 skin amelanotic melanoma oboInOwl:hasDbXref UMLS:C0349515 semapv:UnspecifiedMatching DOID:10069 subglottis benign neoplasm oboInOwl:hasDbXref NCI:C4426 semapv:UnspecifiedMatching -DOID:10069 subglottis benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345746 semapv:UnspecifiedMatching +DOID:10069 subglottis benign neoplasm oboInOwl:hasDbXref UMLS:C0345746 semapv:UnspecifiedMatching DOID:10070 larynx leiomyoma oboInOwl:hasDbXref NCI:C6027 semapv:UnspecifiedMatching -DOID:10070 larynx leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334370 semapv:UnspecifiedMatching +DOID:10070 larynx leiomyoma oboInOwl:hasDbXref UMLS:C1334370 semapv:UnspecifiedMatching DOID:10071 larynx squamous papilloma oboInOwl:hasDbXref NCI:C7742 semapv:UnspecifiedMatching -DOID:10071 larynx squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C0240164 semapv:UnspecifiedMatching +DOID:10071 larynx squamous papilloma oboInOwl:hasDbXref UMLS:C0240164 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref GARD:8731 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref ICD9CM:094.2 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref MESH:C536775 semapv:UnspecifiedMatching -DOID:10073 syphilitic meningitis oboInOwl:hasDbXref UMLS_CUI:C0153166 semapv:UnspecifiedMatching +DOID:10073 syphilitic meningitis oboInOwl:hasDbXref UMLS:C0153166 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref GARD:2787 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref ICD10CM:B71.0 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref ICD9CM:123.6 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref MESH:D006925 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref NCI:C84768 semapv:UnspecifiedMatching -DOID:10074 hymenolepiasis oboInOwl:hasDbXref UMLS_CUI:C0020413 semapv:UnspecifiedMatching +DOID:10074 hymenolepiasis oboInOwl:hasDbXref UMLS:C0020413 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref GARD:942 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref ICD10CM:B70.0 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref ICD9CM:123.4 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref MESH:D004169 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref NCI:C128391 semapv:UnspecifiedMatching -DOID:10075 diphyllobothriasis oboInOwl:hasDbXref UMLS_CUI:C0012561 semapv:UnspecifiedMatching +DOID:10075 diphyllobothriasis oboInOwl:hasDbXref UMLS:C0012561 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis skos:exactMatch MESH:D004169 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref GARD:8194 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref ICD10CM:B69 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref ICD9CM:123.1 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref MESH:D003551 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref NCI:C34520 semapv:UnspecifiedMatching -DOID:10079 cysticercosis oboInOwl:hasDbXref UMLS_CUI:C0010678 semapv:UnspecifiedMatching +DOID:10079 cysticercosis oboInOwl:hasDbXref UMLS:C0010678 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref ICD10CM:B70.1 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref ICD9CM:123.5 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref MESH:D013031 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref NCI:C35030 semapv:UnspecifiedMatching -DOID:10080 sparganosis oboInOwl:hasDbXref UMLS_CUI:C0037753 semapv:UnspecifiedMatching +DOID:10080 sparganosis oboInOwl:hasDbXref UMLS:C0037753 semapv:UnspecifiedMatching DOID:10080 sparganosis skos:exactMatch MESH:D013031 semapv:UnspecifiedMatching DOID:10081 syphilitic encephalitis oboInOwl:hasDbXref ICD9CM:094.81 semapv:UnspecifiedMatching -DOID:10081 syphilitic encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153168 semapv:UnspecifiedMatching +DOID:10081 syphilitic encephalitis oboInOwl:hasDbXref UMLS:C0153168 semapv:UnspecifiedMatching DOID:10087 gastric leiomyoma oboInOwl:hasDbXref NCI:C3876 semapv:UnspecifiedMatching -DOID:10087 gastric leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0238440 semapv:UnspecifiedMatching +DOID:10087 gastric leiomyoma oboInOwl:hasDbXref UMLS:C0238440 semapv:UnspecifiedMatching DOID:10095 intracranial abscess oboInOwl:hasDbXref ICD9CM:324.0 semapv:UnspecifiedMatching DOID:10095 intracranial abscess oboInOwl:hasDbXref NCI:C34734 semapv:UnspecifiedMatching -DOID:10095 intracranial abscess oboInOwl:hasDbXref UMLS_CUI:C0021874 semapv:UnspecifiedMatching +DOID:10095 intracranial abscess oboInOwl:hasDbXref UMLS:C0021874 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref ICD10CM:B56 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref ICD9CM:086.5 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref KEGG:05143 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref MESH:D014353 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref NCI:C84541 semapv:UnspecifiedMatching -DOID:10112 sleeping sickness oboInOwl:hasDbXref UMLS_CUI:C0041228 semapv:UnspecifiedMatching +DOID:10112 sleeping sickness oboInOwl:hasDbXref UMLS:C0041228 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref ICD10CM:B57.2 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref ICD9CM:086 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref MEDDRA:10044707 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref MESH:D014352 semapv:UnspecifiedMatching -DOID:10113 trypanosomiasis oboInOwl:hasDbXref UMLS_CUI:C0041227 semapv:UnspecifiedMatching +DOID:10113 trypanosomiasis oboInOwl:hasDbXref UMLS:C0041227 semapv:UnspecifiedMatching DOID:10120 obsolete eyelid degenerative disease oboInOwl:hasDbXref ICD9CM:374.50 semapv:UnspecifiedMatching -DOID:10120 obsolete eyelid degenerative disease oboInOwl:hasDbXref UMLS_CUI:C0155209 semapv:UnspecifiedMatching +DOID:10120 obsolete eyelid degenerative disease oboInOwl:hasDbXref UMLS:C0155209 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref ICD10CM:H02.71 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref ICD9CM:374.52 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref MESH:C562400 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref OMIM:145100 semapv:UnspecifiedMatching -DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155211 semapv:UnspecifiedMatching +DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref UMLS:C0155211 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid skos:exactMatch OMIM:145100 semapv:UnspecifiedMatching DOID:10123 pigmentation disease oboInOwl:hasDbXref ICD9CM:709.09 semapv:UnspecifiedMatching -DOID:10123 pigmentation disease oboInOwl:hasDbXref UMLS_CUI:C0375489 semapv:UnspecifiedMatching +DOID:10123 pigmentation disease oboInOwl:hasDbXref UMLS:C0375489 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref ICD10CM:H18.9 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref ICD9CM:371.9 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref MESH:D003316 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref NCI:C26731 semapv:UnspecifiedMatching -DOID:10124 corneal disease oboInOwl:hasDbXref UMLS_CUI:C0010034 semapv:UnspecifiedMatching +DOID:10124 corneal disease oboInOwl:hasDbXref UMLS:C0010034 semapv:UnspecifiedMatching DOID:10125 acute hydrops keratoconus oboInOwl:hasDbXref ICD9CM:371.62 semapv:UnspecifiedMatching -DOID:10125 acute hydrops keratoconus oboInOwl:hasDbXref UMLS_CUI:C0339286 semapv:UnspecifiedMatching +DOID:10125 acute hydrops keratoconus oboInOwl:hasDbXref UMLS:C0339286 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref GARD:6824 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref ICD10CM:H18.6 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref ICD9CM:371.6 semapv:UnspecifiedMatching @@ -17139,58 +17451,58 @@ DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614623 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614628 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614629 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref ORDO:156071 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref UMLS_CUI:C0022578 semapv:UnspecifiedMatching +DOID:10126 keratoconus oboInOwl:hasDbXref UMLS:C0022578 semapv:UnspecifiedMatching DOID:10127 cerebral artery occlusion oboInOwl:hasDbXref ICD9CM:434 semapv:UnspecifiedMatching -DOID:10127 cerebral artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0028790 semapv:UnspecifiedMatching +DOID:10127 cerebral artery occlusion oboInOwl:hasDbXref UMLS:C0028790 semapv:UnspecifiedMatching DOID:10128 venous insufficiency oboInOwl:hasDbXref ICD9CM:459.81 semapv:UnspecifiedMatching DOID:10128 venous insufficiency oboInOwl:hasDbXref MESH:D014689 semapv:UnspecifiedMatching DOID:10128 venous insufficiency oboInOwl:hasDbXref NCI:C127822 semapv:UnspecifiedMatching -DOID:10128 venous insufficiency oboInOwl:hasDbXref UMLS_CUI:C0042485 semapv:UnspecifiedMatching +DOID:10128 venous insufficiency oboInOwl:hasDbXref UMLS:C0042485 semapv:UnspecifiedMatching DOID:10131 psychologic vaginismus oboInOwl:hasDbXref ICD10CM:F52.5 semapv:UnspecifiedMatching DOID:10131 psychologic vaginismus oboInOwl:hasDbXref ICD9CM:306.51 semapv:UnspecifiedMatching DOID:10131 psychologic vaginismus oboInOwl:hasDbXref NCI:C35113 semapv:UnspecifiedMatching -DOID:10131 psychologic vaginismus oboInOwl:hasDbXref UMLS_CUI:C0042266 semapv:UnspecifiedMatching +DOID:10131 psychologic vaginismus oboInOwl:hasDbXref UMLS:C0042266 semapv:UnspecifiedMatching DOID:10132 psychosexual disorder oboInOwl:hasDbXref ICD9CM:302.79 semapv:UnspecifiedMatching -DOID:10132 psychosexual disorder oboInOwl:hasDbXref UMLS_CUI:C0033951 semapv:UnspecifiedMatching +DOID:10132 psychosexual disorder oboInOwl:hasDbXref UMLS:C0033951 semapv:UnspecifiedMatching DOID:10138 xerophthalmia oboInOwl:hasDbXref ICD10CM:E50.7 semapv:UnspecifiedMatching DOID:10138 xerophthalmia oboInOwl:hasDbXref ICD9CM:375.15 semapv:UnspecifiedMatching DOID:10138 xerophthalmia oboInOwl:hasDbXref MESH:D014985 semapv:UnspecifiedMatching DOID:10138 xerophthalmia oboInOwl:hasDbXref NCI:C34503 semapv:UnspecifiedMatching -DOID:10138 xerophthalmia oboInOwl:hasDbXref UMLS_CUI:C0043349 semapv:UnspecifiedMatching +DOID:10138 xerophthalmia oboInOwl:hasDbXref UMLS:C0043349 semapv:UnspecifiedMatching DOID:10139 conjunctival degeneration oboInOwl:hasDbXref ICD10CM:H11.10 semapv:UnspecifiedMatching DOID:10139 conjunctival degeneration oboInOwl:hasDbXref ICD9CM:372.50 semapv:UnspecifiedMatching -DOID:10139 conjunctival degeneration oboInOwl:hasDbXref UMLS_CUI:C0155160 semapv:UnspecifiedMatching +DOID:10139 conjunctival degeneration oboInOwl:hasDbXref UMLS:C0155160 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref ICD10CM:H04.12 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref MESH:D015352 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref NCI:C34553 semapv:UnspecifiedMatching -DOID:10140 dry eye syndrome oboInOwl:hasDbXref UMLS_CUI:C0013238 semapv:UnspecifiedMatching +DOID:10140 dry eye syndrome oboInOwl:hasDbXref UMLS:C0013238 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome skos:exactMatch MESH:D015352 semapv:UnspecifiedMatching DOID:10146 thymus lymphoma oboInOwl:hasDbXref NCI:C6451 semapv:UnspecifiedMatching -DOID:10146 thymus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336745 semapv:UnspecifiedMatching +DOID:10146 thymus lymphoma oboInOwl:hasDbXref UMLS:C1336745 semapv:UnspecifiedMatching DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref ICD10CM:C40.2 semapv:UnspecifiedMatching DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref ICD9CM:170.7 semapv:UnspecifiedMatching -DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref UMLS_CUI:C0153517 semapv:UnspecifiedMatching +DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref UMLS:C0153517 semapv:UnspecifiedMatching DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref ICD10CM:C40.3 semapv:UnspecifiedMatching DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref ICD9CM:170.8 semapv:UnspecifiedMatching -DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref UMLS_CUI:C0153518 semapv:UnspecifiedMatching +DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref UMLS:C0153518 semapv:UnspecifiedMatching DOID:10152 Meckel's diverticulum cancer oboInOwl:hasDbXref ICD9CM:152.3 semapv:UnspecifiedMatching -DOID:10152 Meckel's diverticulum cancer oboInOwl:hasDbXref UMLS_CUI:C0153429 semapv:UnspecifiedMatching +DOID:10152 Meckel's diverticulum cancer oboInOwl:hasDbXref UMLS:C0153429 semapv:UnspecifiedMatching DOID:10153 ileum cancer oboInOwl:hasDbXref ICD10CM:C17.2 semapv:UnspecifiedMatching DOID:10153 ileum cancer oboInOwl:hasDbXref ICD9CM:152.2 semapv:UnspecifiedMatching -DOID:10153 ileum cancer oboInOwl:hasDbXref UMLS_CUI:C0153428 semapv:UnspecifiedMatching +DOID:10153 ileum cancer oboInOwl:hasDbXref UMLS:C0153428 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref GARD:9385 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref ICD10CM:C17 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref ICD9CM:152.9 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref NCI:C7523 semapv:UnspecifiedMatching -DOID:10154 small intestine cancer oboInOwl:hasDbXref UMLS_CUI:C0153425 semapv:UnspecifiedMatching +DOID:10154 small intestine cancer oboInOwl:hasDbXref UMLS:C0153425 semapv:UnspecifiedMatching DOID:10155 intestinal cancer oboInOwl:hasDbXref ICD10CM:C26.0 semapv:UnspecifiedMatching DOID:10155 intestinal cancer oboInOwl:hasDbXref ICD9CM:159.0 semapv:UnspecifiedMatching DOID:10155 intestinal cancer oboInOwl:hasDbXref MESH:D007414 semapv:UnspecifiedMatching DOID:10155 intestinal cancer oboInOwl:hasDbXref NCI:C4572 semapv:UnspecifiedMatching -DOID:10155 intestinal cancer oboInOwl:hasDbXref UMLS_CUI:C0346627 semapv:UnspecifiedMatching +DOID:10155 intestinal cancer oboInOwl:hasDbXref UMLS:C0346627 semapv:UnspecifiedMatching DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref MESH:D007078 semapv:UnspecifiedMatching DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref NCI:C3130 semapv:UnspecifiedMatching -DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020876 semapv:UnspecifiedMatching +DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref UMLS:C0020876 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD10CM:M87 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD10CM:M87.9 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:732.3 semapv:UnspecifiedMatching @@ -17204,17 +17516,17 @@ DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C34841 semapv:UnspecifiedMatchin DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C34880 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C35226 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C35517 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0003977 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0027543 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0029445 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158442 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158449 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158450 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158451 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0745048 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0003977 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0027543 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0029445 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0158442 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0158449 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0158450 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0158451 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS:C0745048 semapv:UnspecifiedMatching DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref ICD10CM:H04.81 semapv:UnspecifiedMatching DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref ICD9CM:375.81 semapv:UnspecifiedMatching -DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref UMLS_CUI:C0155253 semapv:UnspecifiedMatching +DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref UMLS:C0155253 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H35.81 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H47.1 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H47.11 semapv:UnspecifiedMatching @@ -17223,65 +17535,65 @@ DOID:10175 optic papillitis oboInOwl:hasDbXref ICD9CM:377.0 semapv:UnspecifiedMa DOID:10175 optic papillitis oboInOwl:hasDbXref ICD9CM:377.01 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref NCI:C3307 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0030353 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0155288 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0242420 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0919308 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS:C0030353 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS:C0155288 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS:C0242420 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS:C0919308 semapv:UnspecifiedMatching DOID:10176 neuroretinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:10176 neuroretinitis oboInOwl:hasDbXref MESH:D012173 semapv:UnspecifiedMatching -DOID:10176 neuroretinitis oboInOwl:hasDbXref UMLS_CUI:C0154874 semapv:UnspecifiedMatching -DOID:10177 malignant hypertensive renal disease oboInOwl:hasDbXref UMLS_CUI:C0155593 semapv:UnspecifiedMatching +DOID:10176 neuroretinitis oboInOwl:hasDbXref UMLS:C0154874 semapv:UnspecifiedMatching +DOID:10177 malignant hypertensive renal disease oboInOwl:hasDbXref UMLS:C0155593 semapv:UnspecifiedMatching DOID:10183 endobronchial lipoma oboInOwl:hasDbXref NCI:C5063 semapv:UnspecifiedMatching -DOID:10183 endobronchial lipoma oboInOwl:hasDbXref UMLS_CUI:C0852937 semapv:UnspecifiedMatching +DOID:10183 endobronchial lipoma oboInOwl:hasDbXref UMLS:C0852937 semapv:UnspecifiedMatching DOID:10184 spindle cell lipoma oboInOwl:hasDbXref ICDO:8857/0 semapv:UnspecifiedMatching DOID:10184 spindle cell lipoma oboInOwl:hasDbXref NCI:C4254 semapv:UnspecifiedMatching -DOID:10184 spindle cell lipoma oboInOwl:hasDbXref UMLS_CUI:C0334474 semapv:UnspecifiedMatching +DOID:10184 spindle cell lipoma oboInOwl:hasDbXref UMLS:C0334474 semapv:UnspecifiedMatching DOID:10187 esophageal lipoma oboInOwl:hasDbXref NCI:C5701 semapv:UnspecifiedMatching -DOID:10187 esophageal lipoma oboInOwl:hasDbXref UMLS_CUI:C1333455 semapv:UnspecifiedMatching +DOID:10187 esophageal lipoma oboInOwl:hasDbXref UMLS:C1333455 semapv:UnspecifiedMatching DOID:10188 skin lipoma oboInOwl:hasDbXref ICD9CM:214.0 semapv:UnspecifiedMatching DOID:10188 skin lipoma oboInOwl:hasDbXref NCI:C4616 semapv:UnspecifiedMatching DOID:10188 skin lipoma oboInOwl:hasDbXref NCI:C5566 semapv:UnspecifiedMatching -DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C0153968 semapv:UnspecifiedMatching -DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C0347394 semapv:UnspecifiedMatching -DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C1333174 semapv:UnspecifiedMatching +DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS:C0153968 semapv:UnspecifiedMatching +DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS:C0347394 semapv:UnspecifiedMatching +DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS:C1333174 semapv:UnspecifiedMatching DOID:1019 osteomyelitis oboInOwl:hasDbXref GARD:7286 semapv:UnspecifiedMatching DOID:1019 osteomyelitis oboInOwl:hasDbXref ICD9CM:730.1 semapv:UnspecifiedMatching -DOID:1019 osteomyelitis oboInOwl:hasDbXref UMLS_CUI:C0008707 semapv:UnspecifiedMatching +DOID:1019 osteomyelitis oboInOwl:hasDbXref UMLS:C0008707 semapv:UnspecifiedMatching DOID:10190 liver lipoma oboInOwl:hasDbXref NCI:C5750 semapv:UnspecifiedMatching -DOID:10190 liver lipoma oboInOwl:hasDbXref UMLS_CUI:C1333970 semapv:UnspecifiedMatching +DOID:10190 liver lipoma oboInOwl:hasDbXref UMLS:C1333970 semapv:UnspecifiedMatching DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref ICDO:8854/0 semapv:UnspecifiedMatching DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref MESH:D008067 semapv:UnspecifiedMatching DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref NCI:C3703 semapv:UnspecifiedMatching -DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref UMLS_CUI:C0205823 semapv:UnspecifiedMatching +DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref UMLS:C0205823 semapv:UnspecifiedMatching DOID:10193 conventional lipoma oboInOwl:hasDbXref NCI:C27530 semapv:UnspecifiedMatching -DOID:10193 conventional lipoma oboInOwl:hasDbXref UMLS_CUI:C1333059 semapv:UnspecifiedMatching +DOID:10193 conventional lipoma oboInOwl:hasDbXref UMLS:C1333059 semapv:UnspecifiedMatching DOID:10194 kidney lipoma oboInOwl:hasDbXref NCI:C5101 semapv:UnspecifiedMatching -DOID:10194 kidney lipoma oboInOwl:hasDbXref UMLS_CUI:C1335744 semapv:UnspecifiedMatching +DOID:10194 kidney lipoma oboInOwl:hasDbXref UMLS:C1335744 semapv:UnspecifiedMatching DOID:10195 pleural lipoma oboInOwl:hasDbXref NCI:C6644 semapv:UnspecifiedMatching -DOID:10195 pleural lipoma oboInOwl:hasDbXref UMLS_CUI:C1335434 semapv:UnspecifiedMatching +DOID:10195 pleural lipoma oboInOwl:hasDbXref UMLS:C1335434 semapv:UnspecifiedMatching DOID:10199 breast lipoma oboInOwl:hasDbXref NCI:C4647 semapv:UnspecifiedMatching -DOID:10199 breast lipoma oboInOwl:hasDbXref UMLS_CUI:C0349565 semapv:UnspecifiedMatching +DOID:10199 breast lipoma oboInOwl:hasDbXref UMLS:C0349565 semapv:UnspecifiedMatching DOID:10200 chest wall lipoma oboInOwl:hasDbXref NCI:C6719 semapv:UnspecifiedMatching -DOID:10200 chest wall lipoma oboInOwl:hasDbXref UMLS_CUI:C1332932 semapv:UnspecifiedMatching +DOID:10200 chest wall lipoma oboInOwl:hasDbXref UMLS:C1332932 semapv:UnspecifiedMatching DOID:10201 gallbladder lipoma oboInOwl:hasDbXref NCI:C5835 semapv:UnspecifiedMatching -DOID:10201 gallbladder lipoma oboInOwl:hasDbXref UMLS_CUI:C1333747 semapv:UnspecifiedMatching +DOID:10201 gallbladder lipoma oboInOwl:hasDbXref UMLS:C1333747 semapv:UnspecifiedMatching DOID:10203 external ear lipoma oboInOwl:hasDbXref NCI:C4618 semapv:UnspecifiedMatching -DOID:10203 external ear lipoma oboInOwl:hasDbXref UMLS_CUI:C0347423 semapv:UnspecifiedMatching +DOID:10203 external ear lipoma oboInOwl:hasDbXref UMLS:C0347423 semapv:UnspecifiedMatching DOID:10205 axillary lipoma oboInOwl:hasDbXref NCI:C35419 semapv:UnspecifiedMatching -DOID:10205 axillary lipoma oboInOwl:hasDbXref UMLS_CUI:C0347429 semapv:UnspecifiedMatching +DOID:10205 axillary lipoma oboInOwl:hasDbXref UMLS:C0347429 semapv:UnspecifiedMatching DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref ICD9CM:214.4 semapv:UnspecifiedMatching DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref NCI:C3606 semapv:UnspecifiedMatching -DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref UMLS_CUI:C0153972 semapv:UnspecifiedMatching +DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref UMLS:C0153972 semapv:UnspecifiedMatching DOID:10207 paratesticular lipoma oboInOwl:hasDbXref NCI:C6384 semapv:UnspecifiedMatching -DOID:10207 paratesticular lipoma oboInOwl:hasDbXref UMLS_CUI:C1335348 semapv:UnspecifiedMatching +DOID:10207 paratesticular lipoma oboInOwl:hasDbXref UMLS:C1335348 semapv:UnspecifiedMatching DOID:10208 chondroid lipoma oboInOwl:hasDbXref ICDO:8862/0 semapv:UnspecifiedMatching DOID:10208 chondroid lipoma oboInOwl:hasDbXref NCI:C6503 semapv:UnspecifiedMatching -DOID:10208 chondroid lipoma oboInOwl:hasDbXref UMLS_CUI:C1266131 semapv:UnspecifiedMatching +DOID:10208 chondroid lipoma oboInOwl:hasDbXref UMLS:C1266131 semapv:UnspecifiedMatching DOID:10209 extrahepatic bile duct lipoma oboInOwl:hasDbXref NCI:C5854 semapv:UnspecifiedMatching -DOID:10209 extrahepatic bile duct lipoma oboInOwl:hasDbXref UMLS_CUI:C1333509 semapv:UnspecifiedMatching +DOID:10209 extrahepatic bile duct lipoma oboInOwl:hasDbXref UMLS:C1333509 semapv:UnspecifiedMatching DOID:10211 cholelithiasis oboInOwl:hasDbXref EFO:0004799 semapv:UnspecifiedMatching DOID:10211 cholelithiasis oboInOwl:hasDbXref ICD9CM:574.5 semapv:UnspecifiedMatching -DOID:10211 cholelithiasis oboInOwl:hasDbXref UMLS_CUI:C0006739 semapv:UnspecifiedMatching +DOID:10211 cholelithiasis oboInOwl:hasDbXref UMLS:C0006739 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref GARD:7397 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.0 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.1 semapv:UnspecifiedMatching @@ -17295,36 +17607,36 @@ DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.2 semapv:UnspecifiedMatchi DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.3 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref MESH:D010874 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref NCI:C85011 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0031946 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153241 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153242 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153243 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153244 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS:C0031946 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS:C0153241 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS:C0153242 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS:C0153243 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS:C0153244 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref GARD:6263 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref ICD10CM:M33 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref ICD9CM:710.3 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref MESH:D003882 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref NCI:C26744 semapv:UnspecifiedMatching -DOID:10223 dermatomyositis oboInOwl:hasDbXref UMLS_CUI:C0011633 semapv:UnspecifiedMatching +DOID:10223 dermatomyositis oboInOwl:hasDbXref UMLS:C0011633 semapv:UnspecifiedMatching DOID:1023 borderline leprosy oboInOwl:hasDbXref ICD10CM:A30.3 semapv:UnspecifiedMatching DOID:1023 borderline leprosy oboInOwl:hasDbXref ICD9CM:030.3 semapv:UnspecifiedMatching DOID:1023 borderline leprosy oboInOwl:hasDbXref MESH:D015439 semapv:UnspecifiedMatching -DOID:1023 borderline leprosy oboInOwl:hasDbXref UMLS_CUI:C0023346 semapv:UnspecifiedMatching +DOID:1023 borderline leprosy oboInOwl:hasDbXref UMLS:C0023346 semapv:UnspecifiedMatching DOID:10230 aortic atherosclerosis oboInOwl:hasDbXref ICD10CM:I70.0 semapv:UnspecifiedMatching DOID:10230 aortic atherosclerosis oboInOwl:hasDbXref ICD9CM:440.0 semapv:UnspecifiedMatching -DOID:10230 aortic atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0155733 semapv:UnspecifiedMatching +DOID:10230 aortic atherosclerosis oboInOwl:hasDbXref UMLS:C0155733 semapv:UnspecifiedMatching DOID:10234 histoplasmosis pericarditis oboInOwl:hasDbXref ICD9CM:115.93 semapv:UnspecifiedMatching -DOID:10234 histoplasmosis pericarditis oboInOwl:hasDbXref UMLS_CUI:C0153279 semapv:UnspecifiedMatching +DOID:10234 histoplasmosis pericarditis oboInOwl:hasDbXref UMLS:C0153279 semapv:UnspecifiedMatching DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref GARD:5963 semapv:UnspecifiedMatching DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref ICD10CM:H50.61 semapv:UnspecifiedMatching DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref ICD9CM:378.61 semapv:UnspecifiedMatching DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref MESH:D015835 semapv:UnspecifiedMatching -DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref UMLS_CUI:C0155339 semapv:UnspecifiedMatching +DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref UMLS:C0155339 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref ICD10CM:F65.2 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref ICD9CM:302.4 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref MESH:D005084 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref NCI:C94352 semapv:UnspecifiedMatching -DOID:10236 exhibitionism oboInOwl:hasDbXref UMLS_CUI:C0015269 semapv:UnspecifiedMatching +DOID:10236 exhibitionism oboInOwl:hasDbXref UMLS:C0015269 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref EFO:0001054 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref GARD:6886 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref ICD10CM:A30 semapv:UnspecifiedMatching @@ -17335,49 +17647,49 @@ DOID:1024 leprosy oboInOwl:hasDbXref OMIM:607572 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref OMIM:609888 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref ORDO:548 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref UMLS_CUI:C0023343 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref UMLS:C0023343 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref GARD:7756 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref ICD10CM:D56 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref ICD9CM:282.4 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref MESH:D013789 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref NCI:C35069 semapv:UnspecifiedMatching -DOID:10241 thalassemia oboInOwl:hasDbXref UMLS_CUI:C0039730 semapv:UnspecifiedMatching +DOID:10241 thalassemia oboInOwl:hasDbXref UMLS:C0039730 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref GARD:2092 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref ICD10CM:A77.4 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref ICD9CM:082.4 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref MESH:D016873 semapv:UnspecifiedMatching -DOID:10242 ehrlichiosis oboInOwl:hasDbXref UMLS_CUI:C0085399 semapv:UnspecifiedMatching +DOID:10242 ehrlichiosis oboInOwl:hasDbXref UMLS:C0085399 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis skos:exactMatch MESH:D016873 semapv:UnspecifiedMatching DOID:10247 pleurisy oboInOwl:hasDbXref ICD9CM:511.8 semapv:UnspecifiedMatching -DOID:10247 pleurisy oboInOwl:hasDbXref UMLS_CUI:C0029799 semapv:UnspecifiedMatching +DOID:10247 pleurisy oboInOwl:hasDbXref UMLS:C0029799 semapv:UnspecifiedMatching DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref ICD10CM:A30.1 semapv:UnspecifiedMatching DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref ICD9CM:030.1 semapv:UnspecifiedMatching DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref MESH:D015441 semapv:UnspecifiedMatching -DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref UMLS_CUI:C0023351 semapv:UnspecifiedMatching +DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref UMLS:C0023351 semapv:UnspecifiedMatching DOID:10250 louping ill oboInOwl:hasDbXref ICD10CM:A84.89 semapv:UnspecifiedMatching DOID:10250 louping ill oboInOwl:hasDbXref ICD9CM:063.1 semapv:UnspecifiedMatching DOID:10250 louping ill oboInOwl:hasDbXref MESH:D008146 semapv:UnspecifiedMatching -DOID:10250 louping ill oboInOwl:hasDbXref UMLS_CUI:C0024025 semapv:UnspecifiedMatching +DOID:10250 louping ill oboInOwl:hasDbXref UMLS:C0024025 semapv:UnspecifiedMatching DOID:10254 strawberry gallbladder oboInOwl:hasDbXref ICD10CM:K82.4 semapv:UnspecifiedMatching DOID:10254 strawberry gallbladder oboInOwl:hasDbXref ICD9CM:575.6 semapv:UnspecifiedMatching -DOID:10254 strawberry gallbladder oboInOwl:hasDbXref UMLS_CUI:C0152456 semapv:UnspecifiedMatching +DOID:10254 strawberry gallbladder oboInOwl:hasDbXref UMLS:C0152456 semapv:UnspecifiedMatching DOID:10261 otorrhea oboInOwl:hasDbXref ICD10CM:H92.1 semapv:UnspecifiedMatching DOID:10261 otorrhea oboInOwl:hasDbXref ICD9CM:388.6 semapv:UnspecifiedMatching DOID:10261 otorrhea oboInOwl:hasDbXref NCI:C35199 semapv:UnspecifiedMatching -DOID:10261 otorrhea oboInOwl:hasDbXref UMLS_CUI:C0155540 semapv:UnspecifiedMatching +DOID:10261 otorrhea oboInOwl:hasDbXref UMLS:C0155540 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref GARD:7116 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref ICD10CM:B26 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref ICD9CM:072 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref MESH:D009107 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref NCI:C29888 semapv:UnspecifiedMatching -DOID:10264 mumps oboInOwl:hasDbXref UMLS_CUI:C0026780 semapv:UnspecifiedMatching +DOID:10264 mumps oboInOwl:hasDbXref UMLS:C0026780 semapv:UnspecifiedMatching DOID:10266 subendocardial infarction acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410.7 semapv:UnspecifiedMatching -DOID:10266 subendocardial infarction acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155655 semapv:UnspecifiedMatching +DOID:10266 subendocardial infarction acute myocardial infarction oboInOwl:hasDbXref UMLS:C0155655 semapv:UnspecifiedMatching DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref ICD10CM:I44.60 semapv:UnspecifiedMatching DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref ICD9CM:426.2 semapv:UnspecifiedMatching -DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref UMLS_CUI:C0155702 semapv:UnspecifiedMatching +DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref UMLS:C0155702 semapv:UnspecifiedMatching DOID:10273 heart conduction disease oboInOwl:hasDbXref ICD9CM:426.6 semapv:UnspecifiedMatching -DOID:10273 heart conduction disease oboInOwl:hasDbXref UMLS_CUI:C0029630 semapv:UnspecifiedMatching +DOID:10273 heart conduction disease oboInOwl:hasDbXref UMLS:C0029630 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref ICD10CM:C61 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref ICD9CM:185 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref KEGG:05215 semapv:UnspecifiedMatching @@ -17402,215 +17714,215 @@ DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611955 semapv:UnspecifiedMatc DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611958 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref ORDO:1331 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS_CUI:C0033578 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS_CUI:C0376358 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS:C0033578 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS:C0376358 semapv:UnspecifiedMatching DOID:10286 prostate carcinoma oboInOwl:hasDbXref EFO:0001663 semapv:UnspecifiedMatching DOID:10286 prostate carcinoma oboInOwl:hasDbXref KEGG:05215 semapv:UnspecifiedMatching DOID:10286 prostate carcinoma oboInOwl:hasDbXref NCI:C4863 semapv:UnspecifiedMatching -DOID:10286 prostate carcinoma oboInOwl:hasDbXref UMLS_CUI:C0600139 semapv:UnspecifiedMatching +DOID:10286 prostate carcinoma oboInOwl:hasDbXref UMLS:C0600139 semapv:UnspecifiedMatching DOID:10287 prostate squamous cell carcinoma oboInOwl:hasDbXref NCI:C5536 semapv:UnspecifiedMatching -DOID:10287 prostate squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1302530 semapv:UnspecifiedMatching +DOID:10287 prostate squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1302530 semapv:UnspecifiedMatching DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref MESH:C549759 semapv:UnspecifiedMatching DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref NCI:C5531 semapv:UnspecifiedMatching -DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1334615 semapv:UnspecifiedMatching +DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref UMLS:C1334615 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref GARD:6422 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref MESH:D010245 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref NCI:C84709 semapv:UnspecifiedMatching -DOID:1029 familial periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0030443 semapv:UnspecifiedMatching +DOID:1029 familial periodic paralysis oboInOwl:hasDbXref UMLS:C0030443 semapv:UnspecifiedMatching DOID:10290 prostate lymphoma oboInOwl:hasDbXref NCI:C5533 semapv:UnspecifiedMatching -DOID:10290 prostate lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335512 semapv:UnspecifiedMatching +DOID:10290 prostate lymphoma oboInOwl:hasDbXref UMLS:C1335512 semapv:UnspecifiedMatching DOID:10293 monocular esotropia oboInOwl:hasDbXref ICD10CM:H50.01 semapv:UnspecifiedMatching DOID:10293 monocular esotropia oboInOwl:hasDbXref ICD9CM:378.01 semapv:UnspecifiedMatching DOID:10293 monocular esotropia oboInOwl:hasDbXref MESH:D004948 semapv:UnspecifiedMatching -DOID:10293 monocular esotropia oboInOwl:hasDbXref UMLS_CUI:C0152204 semapv:UnspecifiedMatching +DOID:10293 monocular esotropia oboInOwl:hasDbXref UMLS:C0152204 semapv:UnspecifiedMatching DOID:10300 Raynaud disease oboInOwl:hasDbXref ICD10CM:I73.0 semapv:UnspecifiedMatching DOID:10300 Raynaud disease oboInOwl:hasDbXref MESH:D011928 semapv:UnspecifiedMatching DOID:10300 Raynaud disease oboInOwl:hasDbXref OMIM:179600 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease oboInOwl:hasDbXref UMLS_CUI:C0034734 semapv:UnspecifiedMatching +DOID:10300 Raynaud disease oboInOwl:hasDbXref UMLS:C0034734 semapv:UnspecifiedMatching DOID:10300 Raynaud disease skos:exactMatch MESH:D011928 semapv:UnspecifiedMatching DOID:10300 Raynaud disease skos:exactMatch OMIM:179600 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref ICD10CM:K11.2 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref MESH:D010309 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref NCI:C114281 semapv:UnspecifiedMatching -DOID:10301 parotitis oboInOwl:hasDbXref UMLS_CUI:C0030583 semapv:UnspecifiedMatching +DOID:10301 parotitis oboInOwl:hasDbXref UMLS:C0030583 semapv:UnspecifiedMatching DOID:10301 parotitis skos:exactMatch MESH:D010309 semapv:UnspecifiedMatching DOID:10302 parotid disease oboInOwl:hasDbXref MESH:D010305 semapv:UnspecifiedMatching -DOID:10302 parotid disease oboInOwl:hasDbXref UMLS_CUI:C0030579 semapv:UnspecifiedMatching +DOID:10302 parotid disease oboInOwl:hasDbXref UMLS:C0030579 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref GARD:7638 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref ICD10CM:K11.2 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref ICD9CM:527.2 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref MESH:D012793 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref NCI:C26882 semapv:UnspecifiedMatching -DOID:10303 sialadenitis oboInOwl:hasDbXref UMLS_CUI:C0037023 semapv:UnspecifiedMatching +DOID:10303 sialadenitis oboInOwl:hasDbXref UMLS:C0037023 semapv:UnspecifiedMatching DOID:10310 viral meningitis oboInOwl:hasDbXref ICD10CM:A87 semapv:UnspecifiedMatching DOID:10310 viral meningitis oboInOwl:hasDbXref ICD9CM:047.9 semapv:UnspecifiedMatching DOID:10310 viral meningitis oboInOwl:hasDbXref MESH:D008587 semapv:UnspecifiedMatching DOID:10310 viral meningitis oboInOwl:hasDbXref NCI:C118298 semapv:UnspecifiedMatching -DOID:10310 viral meningitis oboInOwl:hasDbXref UMLS_CUI:C0025297 semapv:UnspecifiedMatching +DOID:10310 viral meningitis oboInOwl:hasDbXref UMLS:C0025297 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref ICD10CM:I33.9 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref ICD9CM:421.9 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref MESH:D004696 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref NCI:C34582 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref NCI:C35432 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref UMLS_CUI:C0014118 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref UMLS_CUI:C0375268 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref UMLS:C0014118 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref UMLS:C0375268 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref ICD10CM:J64 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref ICD9CM:505 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref MESH:D011009 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref NCI:C26861 semapv:UnspecifiedMatching -DOID:10316 pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0032273 semapv:UnspecifiedMatching +DOID:10316 pneumoconiosis oboInOwl:hasDbXref UMLS:C0032273 semapv:UnspecifiedMatching DOID:10319 mixed mineral dust pneumoconiosis oboInOwl:hasDbXref NCI:C27559 semapv:UnspecifiedMatching -DOID:10319 mixed mineral dust pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0340184 semapv:UnspecifiedMatching +DOID:10319 mixed mineral dust pneumoconiosis oboInOwl:hasDbXref UMLS:C0340184 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref GARD:5852 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref ICD10CM:J61 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref ICD9CM:501 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref MESH:D001195 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref NCI:C84573 semapv:UnspecifiedMatching -DOID:10320 asbestosis oboInOwl:hasDbXref UMLS_CUI:C0003949 semapv:UnspecifiedMatching +DOID:10320 asbestosis oboInOwl:hasDbXref UMLS:C0003949 semapv:UnspecifiedMatching DOID:10321 baritosis oboInOwl:hasDbXref GARD:8371 semapv:UnspecifiedMatching DOID:10321 baritosis oboInOwl:hasDbXref MESH:C537080 semapv:UnspecifiedMatching DOID:10321 baritosis oboInOwl:hasDbXref NCI:C34410 semapv:UnspecifiedMatching -DOID:10321 baritosis oboInOwl:hasDbXref UMLS_CUI:C0340177 semapv:UnspecifiedMatching +DOID:10321 baritosis oboInOwl:hasDbXref UMLS:C0340177 semapv:UnspecifiedMatching DOID:10322 berylliosis oboInOwl:hasDbXref ICD10CM:J63.2 semapv:UnspecifiedMatching DOID:10322 berylliosis oboInOwl:hasDbXref MESH:D001607 semapv:UnspecifiedMatching -DOID:10322 berylliosis oboInOwl:hasDbXref UMLS_CUI:C0005138 semapv:UnspecifiedMatching +DOID:10322 berylliosis oboInOwl:hasDbXref UMLS:C0005138 semapv:UnspecifiedMatching DOID:10323 byssinosis oboInOwl:hasDbXref GARD:5976 semapv:UnspecifiedMatching DOID:10323 byssinosis oboInOwl:hasDbXref ICD10CM:J66.0 semapv:UnspecifiedMatching DOID:10323 byssinosis oboInOwl:hasDbXref MESH:D002095 semapv:UnspecifiedMatching DOID:10323 byssinosis oboInOwl:hasDbXref NCI:C84605 semapv:UnspecifiedMatching -DOID:10323 byssinosis oboInOwl:hasDbXref UMLS_CUI:C0006542 semapv:UnspecifiedMatching +DOID:10323 byssinosis oboInOwl:hasDbXref UMLS:C0006542 semapv:UnspecifiedMatching DOID:10324 anthracosilicosis oboInOwl:hasDbXref ICD10CM:J60 semapv:UnspecifiedMatching DOID:10324 anthracosilicosis oboInOwl:hasDbXref MESH:D000874 semapv:UnspecifiedMatching DOID:10324 anthracosilicosis oboInOwl:hasDbXref NCI:C34389 semapv:UnspecifiedMatching -DOID:10324 anthracosilicosis oboInOwl:hasDbXref UMLS_CUI:C0003164 semapv:UnspecifiedMatching +DOID:10324 anthracosilicosis oboInOwl:hasDbXref UMLS:C0003164 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref GARD:7647 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref ICD10CM:J62.8 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref ICD9CM:502 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref MESH:D012829 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref NCI:C3369 semapv:UnspecifiedMatching -DOID:10325 silicosis oboInOwl:hasDbXref UMLS_CUI:C0037116 semapv:UnspecifiedMatching +DOID:10325 silicosis oboInOwl:hasDbXref UMLS:C0037116 semapv:UnspecifiedMatching DOID:10326 Caplan's syndrome oboInOwl:hasDbXref MESH:D002205 semapv:UnspecifiedMatching -DOID:10326 Caplan's syndrome oboInOwl:hasDbXref UMLS_CUI:C0006915 semapv:UnspecifiedMatching +DOID:10326 Caplan's syndrome oboInOwl:hasDbXref UMLS:C0006915 semapv:UnspecifiedMatching DOID:10327 anthracosis oboInOwl:hasDbXref ICD10CM:J60 semapv:UnspecifiedMatching DOID:10327 anthracosis oboInOwl:hasDbXref ICD9CM:500 semapv:UnspecifiedMatching DOID:10327 anthracosis oboInOwl:hasDbXref MESH:D055008 semapv:UnspecifiedMatching DOID:10327 anthracosis oboInOwl:hasDbXref NCI:C34390 semapv:UnspecifiedMatching -DOID:10327 anthracosis oboInOwl:hasDbXref UMLS_CUI:C0003165 semapv:UnspecifiedMatching +DOID:10327 anthracosis oboInOwl:hasDbXref UMLS:C0003165 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref GARD:7645 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref ICD10CM:J63.4 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref MESH:D012806 semapv:UnspecifiedMatching -DOID:10328 siderosis oboInOwl:hasDbXref UMLS_CUI:C0037061 semapv:UnspecifiedMatching +DOID:10328 siderosis oboInOwl:hasDbXref UMLS:C0037061 semapv:UnspecifiedMatching DOID:10329 pulmonary talcosis oboInOwl:hasDbXref ICD10CM:J62.0 semapv:UnspecifiedMatching DOID:10329 pulmonary talcosis oboInOwl:hasDbXref NCI:C27026 semapv:UnspecifiedMatching -DOID:10329 pulmonary talcosis oboInOwl:hasDbXref UMLS_CUI:C0238377 semapv:UnspecifiedMatching +DOID:10329 pulmonary talcosis oboInOwl:hasDbXref UMLS:C0238377 semapv:UnspecifiedMatching DOID:10330 slate pneumoconiosis oboInOwl:hasDbXref NCI:C35397 semapv:UnspecifiedMatching -DOID:10330 slate pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0340186 semapv:UnspecifiedMatching +DOID:10330 slate pneumoconiosis oboInOwl:hasDbXref UMLS:C0340186 semapv:UnspecifiedMatching DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref GARD:8355 semapv:UnspecifiedMatching DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref NCI:C35315 semapv:UnspecifiedMatching -DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0264435 semapv:UnspecifiedMatching +DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref UMLS:C0264435 semapv:UnspecifiedMatching DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref ICD10CM:H47.23 semapv:UnspecifiedMatching DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref ICD9CM:377.14 semapv:UnspecifiedMatching -DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref UMLS_CUI:C0271342 semapv:UnspecifiedMatching +DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref UMLS:C0271342 semapv:UnspecifiedMatching DOID:10341 chronic meningitis oboInOwl:hasDbXref ICD10CM:G03.1 semapv:UnspecifiedMatching DOID:10341 chronic meningitis oboInOwl:hasDbXref ICD9CM:322.2 semapv:UnspecifiedMatching -DOID:10341 chronic meningitis oboInOwl:hasDbXref UMLS_CUI:C0154653 semapv:UnspecifiedMatching +DOID:10341 chronic meningitis oboInOwl:hasDbXref UMLS:C0154653 semapv:UnspecifiedMatching DOID:10348 blepharophimosis oboInOwl:hasDbXref GARD:5932 semapv:UnspecifiedMatching DOID:10348 blepharophimosis oboInOwl:hasDbXref ICD10CM:H02.52 semapv:UnspecifiedMatching DOID:10348 blepharophimosis oboInOwl:hasDbXref ICD9CM:374.46 semapv:UnspecifiedMatching DOID:10348 blepharophimosis oboInOwl:hasDbXref MESH:D016569 semapv:UnspecifiedMatching -DOID:10348 blepharophimosis oboInOwl:hasDbXref UMLS_CUI:C0005744 semapv:UnspecifiedMatching +DOID:10348 blepharophimosis oboInOwl:hasDbXref UMLS:C0005744 semapv:UnspecifiedMatching DOID:10348 blepharophimosis skos:exactMatch MESH:D016569 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref ICD10CM:N60.0 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref ICD9CM:610.0 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref NCI:C3378 semapv:UnspecifiedMatching -DOID:10349 solitary cyst of breast oboInOwl:hasDbXref UMLS_CUI:C0037619 semapv:UnspecifiedMatching +DOID:10349 solitary cyst of breast oboInOwl:hasDbXref UMLS:C0037619 semapv:UnspecifiedMatching DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10CM:C94.8 semapv:UnspecifiedMatching DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref ICDO:9948/3 semapv:UnspecifiedMatching DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref NCI:C8647 semapv:UnspecifiedMatching -DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS_CUI:C1292777 semapv:UnspecifiedMatching +DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS:C1292777 semapv:UnspecifiedMatching DOID:10350 breast cyst oboInOwl:hasDbXref ICD10CM:N60.0 semapv:UnspecifiedMatching DOID:10350 breast cyst oboInOwl:hasDbXref MESH:D047688 semapv:UnspecifiedMatching DOID:10350 breast cyst oboInOwl:hasDbXref NCI:C5315 semapv:UnspecifiedMatching -DOID:10350 breast cyst oboInOwl:hasDbXref UMLS_CUI:C0006144 semapv:UnspecifiedMatching +DOID:10350 breast cyst oboInOwl:hasDbXref UMLS:C0006144 semapv:UnspecifiedMatching DOID:10352 breast fibroadenosis oboInOwl:hasDbXref ICD10CM:N60.2 semapv:UnspecifiedMatching DOID:10352 breast fibroadenosis oboInOwl:hasDbXref ICD9CM:610.2 semapv:UnspecifiedMatching -DOID:10352 breast fibroadenosis oboInOwl:hasDbXref UMLS_CUI:C1305875 semapv:UnspecifiedMatching +DOID:10352 breast fibroadenosis oboInOwl:hasDbXref UMLS:C1305875 semapv:UnspecifiedMatching DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref ICD10CM:N60.3 semapv:UnspecifiedMatching DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref ICD9CM:610.3 semapv:UnspecifiedMatching DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref NCI:C3660 semapv:UnspecifiedMatching -DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref UMLS_CUI:C0156318 semapv:UnspecifiedMatching +DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref UMLS:C0156318 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref ICD10CM:N60.1 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref ICD9CM:610.1 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref MESH:D005348 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref NCI:C3039 semapv:UnspecifiedMatching -DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref UMLS_CUI:C0016034 semapv:UnspecifiedMatching +DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref UMLS:C0016034 semapv:UnspecifiedMatching DOID:1036 chronic leukemia oboInOwl:hasDbXref NCI:C3483 semapv:UnspecifiedMatching DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref ICD9CM:322.1 semapv:UnspecifiedMatching DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref NCI:C128374 semapv:UnspecifiedMatching -DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref UMLS_CUI:C0154652 semapv:UnspecifiedMatching +DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref UMLS:C0154652 semapv:UnspecifiedMatching DOID:10366 epididymis cancer oboInOwl:hasDbXref ICD10CM:C63.0 semapv:UnspecifiedMatching DOID:10366 epididymis cancer oboInOwl:hasDbXref ICD9CM:187.5 semapv:UnspecifiedMatching DOID:10366 epididymis cancer oboInOwl:hasDbXref NCI:C3558 semapv:UnspecifiedMatching -DOID:10366 epididymis cancer oboInOwl:hasDbXref UMLS_CUI:C0153602 semapv:UnspecifiedMatching +DOID:10366 epididymis cancer oboInOwl:hasDbXref UMLS:C0153602 semapv:UnspecifiedMatching DOID:10368 epididymis adenocarcinoma oboInOwl:hasDbXref NCI:C39957 semapv:UnspecifiedMatching -DOID:10368 epididymis adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1510784 semapv:UnspecifiedMatching +DOID:10368 epididymis adenocarcinoma oboInOwl:hasDbXref UMLS:C1510784 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICD10CM:C91 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICD9CM:204 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICDO:9820/3 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref MESH:D007945 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref NCI:C7539 semapv:UnspecifiedMatching -DOID:1037 lymphoid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023448 semapv:UnspecifiedMatching +DOID:1037 lymphoid leukemia oboInOwl:hasDbXref UMLS:C0023448 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref GARD:7913 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref ICD10CM:A66 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref ICD9CM:102 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref MESH:D015001 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref NCI:C41353 semapv:UnspecifiedMatching -DOID:10371 yaws oboInOwl:hasDbXref UMLS_CUI:C0043388 semapv:UnspecifiedMatching +DOID:10371 yaws oboInOwl:hasDbXref UMLS:C0043388 semapv:UnspecifiedMatching DOID:10375 strabismic amblyopia oboInOwl:hasDbXref ICD10CM:H53.03 semapv:UnspecifiedMatching DOID:10375 strabismic amblyopia oboInOwl:hasDbXref ICD9CM:368.01 semapv:UnspecifiedMatching DOID:10375 strabismic amblyopia oboInOwl:hasDbXref MESH:D000550 semapv:UnspecifiedMatching -DOID:10375 strabismic amblyopia oboInOwl:hasDbXref UMLS_CUI:C0750903 semapv:UnspecifiedMatching +DOID:10375 strabismic amblyopia oboInOwl:hasDbXref UMLS:C0750903 semapv:UnspecifiedMatching DOID:10376 amblyopia oboInOwl:hasDbXref ICD10CM:H53.00 semapv:UnspecifiedMatching DOID:10376 amblyopia oboInOwl:hasDbXref ICD9CM:368.00 semapv:UnspecifiedMatching DOID:10376 amblyopia oboInOwl:hasDbXref MESH:D000550 semapv:UnspecifiedMatching DOID:10376 amblyopia oboInOwl:hasDbXref NCI:C118764 semapv:UnspecifiedMatching -DOID:10376 amblyopia oboInOwl:hasDbXref UMLS_CUI:C0002418 semapv:UnspecifiedMatching +DOID:10376 amblyopia oboInOwl:hasDbXref UMLS:C0002418 semapv:UnspecifiedMatching DOID:10376 amblyopia skos:exactMatch MESH:D000550 semapv:UnspecifiedMatching DOID:10377 refractive amblyopia oboInOwl:hasDbXref ICD10CM:H53.02 semapv:UnspecifiedMatching DOID:10377 refractive amblyopia oboInOwl:hasDbXref ICD9CM:368.03 semapv:UnspecifiedMatching -DOID:10377 refractive amblyopia oboInOwl:hasDbXref UMLS_CUI:C0152190 semapv:UnspecifiedMatching +DOID:10377 refractive amblyopia oboInOwl:hasDbXref UMLS:C0152190 semapv:UnspecifiedMatching DOID:10378 deprivation amblyopia oboInOwl:hasDbXref ICD10CM:H53.01 semapv:UnspecifiedMatching DOID:10378 deprivation amblyopia oboInOwl:hasDbXref ICD9CM:368.02 semapv:UnspecifiedMatching -DOID:10378 deprivation amblyopia oboInOwl:hasDbXref UMLS_CUI:C0152189 semapv:UnspecifiedMatching +DOID:10378 deprivation amblyopia oboInOwl:hasDbXref UMLS:C0152189 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref ICD10CM:G54.5 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref ICD9CM:353.5 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref MESH:D020968 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching -DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref UMLS_CUI:C1510479 semapv:UnspecifiedMatching +DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref UMLS:C1510479 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia skos:exactMatch OMIM:162100 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9832/3 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015463 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref NCI:C3181 semapv:UnspecifiedMatching -DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023486 semapv:UnspecifiedMatching +DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023486 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD10CM:M89.4 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD9CM:731.2 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010005 semapv:UnspecifiedMatching -DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS_CUI:C0029412 semapv:UnspecifiedMatching +DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS:C0029412 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD10CM:A20.2 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.3 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.4 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.5 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0152937 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0152938 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0524688 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS:C0152937 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS:C0152938 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS:C0524688 semapv:UnspecifiedMatching DOID:10399 seminal vesicle chronic gonorrhea oboInOwl:hasDbXref ICD9CM:098.34 semapv:UnspecifiedMatching -DOID:10399 seminal vesicle chronic gonorrhea oboInOwl:hasDbXref UMLS_CUI:C0153205 semapv:UnspecifiedMatching +DOID:10399 seminal vesicle chronic gonorrhea oboInOwl:hasDbXref UMLS:C0153205 semapv:UnspecifiedMatching DOID:104 bacterial infectious disease oboInOwl:hasDbXref ICD10CM:A49.9 semapv:UnspecifiedMatching DOID:104 bacterial infectious disease oboInOwl:hasDbXref MESH:D001424 semapv:UnspecifiedMatching DOID:104 bacterial infectious disease oboInOwl:hasDbXref NCI:C2890 semapv:UnspecifiedMatching -DOID:104 bacterial infectious disease oboInOwl:hasDbXref UMLS_CUI:C0004623 semapv:UnspecifiedMatching +DOID:104 bacterial infectious disease oboInOwl:hasDbXref UMLS:C0004623 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref EFO:0000095 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref GARD:6104 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10CM:C91.10 semapv:UnspecifiedMatching @@ -17624,11 +17936,11 @@ DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612557 semapv:Uns DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612558 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612559 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ORDO:67038 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023434 semapv:UnspecifiedMatching -DOID:10400 gonococcal seminal vesiculitis oboInOwl:hasDbXref UMLS_CUI:C0578661 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023434 semapv:UnspecifiedMatching +DOID:10400 gonococcal seminal vesiculitis oboInOwl:hasDbXref UMLS:C0578661 semapv:UnspecifiedMatching DOID:10423 acute pericementitis oboInOwl:hasDbXref ICD9CM:523.33 semapv:UnspecifiedMatching DOID:10423 acute pericementitis oboInOwl:hasDbXref NCI:C34354 semapv:UnspecifiedMatching -DOID:10423 acute pericementitis oboInOwl:hasDbXref UMLS_CUI:C0001342 semapv:UnspecifiedMatching +DOID:10423 acute pericementitis oboInOwl:hasDbXref UMLS:C0001342 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref GARD:10280 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ICD10CM:Q76.1 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ICD9CM:756.16 semapv:UnspecifiedMatching @@ -17636,83 +17948,83 @@ DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref MESH:D007714 semapv:Unspecif DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref NCI:C98967 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref OMIMPS:118100 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ORDO:2345 semapv:UnspecifiedMatching -DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref UMLS_CUI:C0022738 semapv:UnspecifiedMatching +DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref UMLS:C0022738 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome skos:exactMatch OMIMPS:118100 semapv:UnspecifiedMatching DOID:10428 stable condition keratoconus oboInOwl:hasDbXref ICD10CM:H18.61 semapv:UnspecifiedMatching DOID:10428 stable condition keratoconus oboInOwl:hasDbXref ICD9CM:371.61 semapv:UnspecifiedMatching -DOID:10428 stable condition keratoconus oboInOwl:hasDbXref UMLS_CUI:C0155131 semapv:UnspecifiedMatching +DOID:10428 stable condition keratoconus oboInOwl:hasDbXref UMLS:C0155131 semapv:UnspecifiedMatching DOID:10435 purulent acute otitis media oboInOwl:hasDbXref ICD9CM:382.02 semapv:UnspecifiedMatching -DOID:10435 purulent acute otitis media oboInOwl:hasDbXref UMLS_CUI:C0155439 semapv:UnspecifiedMatching +DOID:10435 purulent acute otitis media oboInOwl:hasDbXref UMLS:C0155439 semapv:UnspecifiedMatching DOID:10439 Mooren's ulcer oboInOwl:hasDbXref ICD10CM:H16.05 semapv:UnspecifiedMatching DOID:10439 Mooren's ulcer oboInOwl:hasDbXref ICD9CM:370.07 semapv:UnspecifiedMatching -DOID:10439 Mooren's ulcer oboInOwl:hasDbXref UMLS_CUI:C0155072 semapv:UnspecifiedMatching +DOID:10439 Mooren's ulcer oboInOwl:hasDbXref UMLS:C0155072 semapv:UnspecifiedMatching DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.06 semapv:UnspecifiedMatching DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref ICD9CM:370.05 semapv:UnspecifiedMatching -DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155071 semapv:UnspecifiedMatching +DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref UMLS:C0155071 semapv:UnspecifiedMatching DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.04 semapv:UnspecifiedMatching DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref ICD9CM:370.01 semapv:UnspecifiedMatching -DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155067 semapv:UnspecifiedMatching +DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref UMLS:C0155067 semapv:UnspecifiedMatching DOID:10442 hypopyon ulcer oboInOwl:hasDbXref ICD10CM:H16.03 semapv:UnspecifiedMatching DOID:10442 hypopyon ulcer oboInOwl:hasDbXref ICD9CM:370.04 semapv:UnspecifiedMatching -DOID:10442 hypopyon ulcer oboInOwl:hasDbXref UMLS_CUI:C0155070 semapv:UnspecifiedMatching +DOID:10442 hypopyon ulcer oboInOwl:hasDbXref UMLS:C0155070 semapv:UnspecifiedMatching DOID:10443 hypopyon oboInOwl:hasDbXref ICD10CM:H20.05 semapv:UnspecifiedMatching DOID:10443 hypopyon oboInOwl:hasDbXref ICD9CM:364.05 semapv:UnspecifiedMatching DOID:10443 hypopyon oboInOwl:hasDbXref NCI:C50593 semapv:UnspecifiedMatching -DOID:10443 hypopyon oboInOwl:hasDbXref UMLS_CUI:C0020641 semapv:UnspecifiedMatching +DOID:10443 hypopyon oboInOwl:hasDbXref UMLS:C0020641 semapv:UnspecifiedMatching DOID:10444 ring corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.02 semapv:UnspecifiedMatching DOID:10444 ring corneal ulcer oboInOwl:hasDbXref ICD9CM:370.02 semapv:UnspecifiedMatching -DOID:10444 ring corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155068 semapv:UnspecifiedMatching +DOID:10444 ring corneal ulcer oboInOwl:hasDbXref UMLS:C0155068 semapv:UnspecifiedMatching DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.07 semapv:UnspecifiedMatching DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref ICD9CM:370.06 semapv:UnspecifiedMatching -DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0151844 semapv:UnspecifiedMatching +DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref UMLS:C0151844 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref ICD10CM:J35.01 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref ICD9CM:474.00 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref MESH:D014069 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref NCI:C116006 semapv:UnspecifiedMatching -DOID:10456 tonsillitis oboInOwl:hasDbXref UMLS_CUI:C0040425 semapv:UnspecifiedMatching -DOID:10456 tonsillitis oboInOwl:hasDbXref UMLS_CUI:C0149517 semapv:UnspecifiedMatching +DOID:10456 tonsillitis oboInOwl:hasDbXref UMLS:C0040425 semapv:UnspecifiedMatching +DOID:10456 tonsillitis oboInOwl:hasDbXref UMLS:C0149517 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref ICD10CM:A48.1 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref ICD9CM:482.84 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref MESH:D007877 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref NCI:C128339 semapv:UnspecifiedMatching -DOID:10457 Legionnaires' disease oboInOwl:hasDbXref UMLS_CUI:C0023241 semapv:UnspecifiedMatching +DOID:10457 Legionnaires' disease oboInOwl:hasDbXref UMLS:C0023241 semapv:UnspecifiedMatching DOID:10458 legionellosis oboInOwl:hasDbXref MESH:D007876 semapv:UnspecifiedMatching DOID:10458 legionellosis oboInOwl:hasDbXref NCI:C128334 semapv:UnspecifiedMatching -DOID:10458 legionellosis oboInOwl:hasDbXref UMLS_CUI:C0023240 semapv:UnspecifiedMatching +DOID:10458 legionellosis oboInOwl:hasDbXref UMLS:C0023240 semapv:UnspecifiedMatching DOID:10459 common cold oboInOwl:hasDbXref ICD10CM:J00 semapv:UnspecifiedMatching DOID:10459 common cold oboInOwl:hasDbXref ICD9CM:460 semapv:UnspecifiedMatching DOID:10459 common cold oboInOwl:hasDbXref MESH:D003139 semapv:UnspecifiedMatching DOID:10459 common cold oboInOwl:hasDbXref NCI:C34500 semapv:UnspecifiedMatching -DOID:10459 common cold oboInOwl:hasDbXref UMLS_CUI:C0009443 semapv:UnspecifiedMatching +DOID:10459 common cold oboInOwl:hasDbXref UMLS:C0009443 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD10CM:J00 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD10CM:J31.1 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD9CM:472.2 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref MESH:D009304 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref NCI:C34837 semapv:UnspecifiedMatching -DOID:10460 nasopharyngitis oboInOwl:hasDbXref UMLS_CUI:C0027441 semapv:UnspecifiedMatching -DOID:10460 nasopharyngitis oboInOwl:hasDbXref UMLS_CUI:C0155826 semapv:UnspecifiedMatching +DOID:10460 nasopharyngitis oboInOwl:hasDbXref UMLS:C0027441 semapv:UnspecifiedMatching +DOID:10460 nasopharyngitis oboInOwl:hasDbXref UMLS:C0155826 semapv:UnspecifiedMatching DOID:10461 dentin caries oboInOwl:hasDbXref ICD10CM:K02 semapv:UnspecifiedMatching DOID:10461 dentin caries oboInOwl:hasDbXref ICD9CM:521.02 semapv:UnspecifiedMatching -DOID:10461 dentin caries oboInOwl:hasDbXref UMLS_CUI:C0266846 semapv:UnspecifiedMatching +DOID:10461 dentin caries oboInOwl:hasDbXref UMLS:C0266846 semapv:UnspecifiedMatching DOID:10471 patellar tendinitis oboInOwl:hasDbXref ICD10CM:M76.5 semapv:UnspecifiedMatching DOID:10471 patellar tendinitis oboInOwl:hasDbXref ICD9CM:726.64 semapv:UnspecifiedMatching -DOID:10471 patellar tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158317 semapv:UnspecifiedMatching +DOID:10471 patellar tendinitis oboInOwl:hasDbXref UMLS:C0158317 semapv:UnspecifiedMatching DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref ICD10CM:Q79.1 semapv:UnspecifiedMatching DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref MESH:D003965 semapv:UnspecifiedMatching DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref NCI:C98912 semapv:UnspecifiedMatching -DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref UMLS_CUI:C0011981 semapv:UnspecifiedMatching +DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref UMLS:C0011981 semapv:UnspecifiedMatching DOID:10481 diaphragm disease oboInOwl:hasDbXref ICD10CM:J98.6 semapv:UnspecifiedMatching DOID:10481 diaphragm disease oboInOwl:hasDbXref ICD9CM:519.4 semapv:UnspecifiedMatching -DOID:10481 diaphragm disease oboInOwl:hasDbXref UMLS_CUI:C0152097 semapv:UnspecifiedMatching +DOID:10481 diaphragm disease oboInOwl:hasDbXref UMLS:C0152097 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref GARD:6381 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref ICD10CM:Q39.0 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref MESH:D004933 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref NCI:C87072 semapv:UnspecifiedMatching -DOID:10485 esophageal atresia oboInOwl:hasDbXref UMLS_CUI:C0014850 semapv:UnspecifiedMatching +DOID:10485 esophageal atresia oboInOwl:hasDbXref UMLS:C0014850 semapv:UnspecifiedMatching DOID:10486 intestinal atresia oboInOwl:hasDbXref ICD10CM:Q41.1 semapv:UnspecifiedMatching DOID:10486 intestinal atresia oboInOwl:hasDbXref MESH:D007409 semapv:UnspecifiedMatching DOID:10486 intestinal atresia oboInOwl:hasDbXref NCI:C84790 semapv:UnspecifiedMatching -DOID:10486 intestinal atresia oboInOwl:hasDbXref UMLS_CUI:C0021828 semapv:UnspecifiedMatching +DOID:10486 intestinal atresia oboInOwl:hasDbXref UMLS:C0021828 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref GARD:6660 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ICD10CM:Q43.1 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching @@ -17723,39 +18035,39 @@ DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606875 semapv:Unspecif DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:608462 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:611644 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ORDO:388 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref UMLS_CUI:C0019569 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref UMLS:C0019569 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref GARD:6769 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref ICD10CM:Q42.3 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref MESH:D001006 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref NCI:C84784 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:207500 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:301800 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref UMLS_CUI:C0003466 semapv:UnspecifiedMatching +DOID:10488 imperforate anus oboInOwl:hasDbXref UMLS:C0003466 semapv:UnspecifiedMatching DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref ICD9CM:255.4 semapv:UnspecifiedMatching DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref NCI:C26691 semapv:UnspecifiedMatching -DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref UMLS_CUI:C0405580 semapv:UnspecifiedMatching +DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref UMLS:C0405580 semapv:UnspecifiedMatching DOID:10499 orbital granuloma oboInOwl:hasDbXref ICD10CM:H05.11 semapv:UnspecifiedMatching DOID:10499 orbital granuloma oboInOwl:hasDbXref ICD9CM:376.11 semapv:UnspecifiedMatching DOID:10499 orbital granuloma oboInOwl:hasDbXref NCI:C3653 semapv:UnspecifiedMatching -DOID:10499 orbital granuloma oboInOwl:hasDbXref UMLS_CUI:C0155262 semapv:UnspecifiedMatching +DOID:10499 orbital granuloma oboInOwl:hasDbXref UMLS:C0155262 semapv:UnspecifiedMatching DOID:10507 Dressler's syndrome oboInOwl:hasDbXref ICD10CM:I24.1 semapv:UnspecifiedMatching DOID:10507 Dressler's syndrome oboInOwl:hasDbXref ICD9CM:411.0 semapv:UnspecifiedMatching -DOID:10507 Dressler's syndrome oboInOwl:hasDbXref UMLS_CUI:C0152107 semapv:UnspecifiedMatching +DOID:10507 Dressler's syndrome oboInOwl:hasDbXref UMLS:C0152107 semapv:UnspecifiedMatching DOID:10516 malignant otitis externa oboInOwl:hasDbXref ICD10CM:H60.2 semapv:UnspecifiedMatching DOID:10516 malignant otitis externa oboInOwl:hasDbXref ICD9CM:380.14 semapv:UnspecifiedMatching -DOID:10516 malignant otitis externa oboInOwl:hasDbXref UMLS_CUI:C0155395 semapv:UnspecifiedMatching +DOID:10516 malignant otitis externa oboInOwl:hasDbXref UMLS:C0155395 semapv:UnspecifiedMatching DOID:10518 beach ear oboInOwl:hasDbXref ICD9CM:380.12 semapv:UnspecifiedMatching -DOID:10518 beach ear oboInOwl:hasDbXref UMLS_CUI:C3831782 semapv:UnspecifiedMatching +DOID:10518 beach ear oboInOwl:hasDbXref UMLS:C3831782 semapv:UnspecifiedMatching DOID:10519 chronic fungal otitis externa oboInOwl:hasDbXref ICD9CM:380.15 semapv:UnspecifiedMatching -DOID:10519 chronic fungal otitis externa oboInOwl:hasDbXref UMLS_CUI:C0155396 semapv:UnspecifiedMatching +DOID:10519 chronic fungal otitis externa oboInOwl:hasDbXref UMLS:C0155396 semapv:UnspecifiedMatching DOID:10520 acute infection of pinna oboInOwl:hasDbXref ICD9CM:380.11 semapv:UnspecifiedMatching -DOID:10520 acute infection of pinna oboInOwl:hasDbXref UMLS_CUI:C0155392 semapv:UnspecifiedMatching +DOID:10520 acute infection of pinna oboInOwl:hasDbXref UMLS:C0155392 semapv:UnspecifiedMatching DOID:10525 double pterygium oboInOwl:hasDbXref ICD9CM:372.44 semapv:UnspecifiedMatching -DOID:10525 double pterygium oboInOwl:hasDbXref UMLS_CUI:C0155157 semapv:UnspecifiedMatching +DOID:10525 double pterygium oboInOwl:hasDbXref UMLS:C0155157 semapv:UnspecifiedMatching DOID:10533 viral pneumonia oboInOwl:hasDbXref ICD10CM:J12.9 semapv:UnspecifiedMatching DOID:10533 viral pneumonia oboInOwl:hasDbXref ICD9CM:480 semapv:UnspecifiedMatching DOID:10533 viral pneumonia oboInOwl:hasDbXref MESH:D011024 semapv:UnspecifiedMatching -DOID:10533 viral pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032310 semapv:UnspecifiedMatching +DOID:10533 viral pneumonia oboInOwl:hasDbXref UMLS:C0032310 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref GARD:7704 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16.2 semapv:UnspecifiedMatching @@ -17769,41 +18081,41 @@ DOID:10534 stomach cancer oboInOwl:hasDbXref MESH:D013274 semapv:UnspecifiedMatc DOID:10534 stomach cancer oboInOwl:hasDbXref NCI:C3387 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref NCI:C9331 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref OMIM:613659 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0024623 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0038356 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153421 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153422 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153423 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0024623 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0038356 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0153421 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0153422 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0153423 semapv:UnspecifiedMatching DOID:10534 stomach cancer skos:exactMatch OMIM:613659 semapv:UnspecifiedMatching DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref NCI:C5484 semapv:UnspecifiedMatching -DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334585 semapv:UnspecifiedMatching +DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref UMLS:C1334585 semapv:UnspecifiedMatching DOID:10538 gastric fundus cancer oboInOwl:hasDbXref ICD10CM:C16.1 semapv:UnspecifiedMatching DOID:10538 gastric fundus cancer oboInOwl:hasDbXref ICD9CM:151.3 semapv:UnspecifiedMatching -DOID:10538 gastric fundus cancer oboInOwl:hasDbXref UMLS_CUI:C0153420 semapv:UnspecifiedMatching +DOID:10538 gastric fundus cancer oboInOwl:hasDbXref UMLS:C0153420 semapv:UnspecifiedMatching DOID:10540 gastric lymphoma oboInOwl:hasDbXref GARD:6485 semapv:UnspecifiedMatching DOID:10540 gastric lymphoma oboInOwl:hasDbXref NCI:C4636 semapv:UnspecifiedMatching -DOID:10540 gastric lymphoma oboInOwl:hasDbXref UMLS_CUI:C0349532 semapv:UnspecifiedMatching +DOID:10540 gastric lymphoma oboInOwl:hasDbXref UMLS:C0349532 semapv:UnspecifiedMatching DOID:10541 microinvasive gastric cancer oboInOwl:hasDbXref NCI:C27131 semapv:UnspecifiedMatching -DOID:10541 microinvasive gastric cancer oboInOwl:hasDbXref UMLS_CUI:C0349530 semapv:UnspecifiedMatching +DOID:10541 microinvasive gastric cancer oboInOwl:hasDbXref UMLS:C0349530 semapv:UnspecifiedMatching DOID:10544 pylorus cancer oboInOwl:hasDbXref ICD10CM:C16.4 semapv:UnspecifiedMatching DOID:10544 pylorus cancer oboInOwl:hasDbXref ICD9CM:151.1 semapv:UnspecifiedMatching DOID:10544 pylorus cancer oboInOwl:hasDbXref NCI:C188051 semapv:UnspecifiedMatching -DOID:10544 pylorus cancer oboInOwl:hasDbXref UMLS_CUI:C0153418 semapv:UnspecifiedMatching +DOID:10544 pylorus cancer oboInOwl:hasDbXref UMLS:C0153418 semapv:UnspecifiedMatching DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref ICD10CM:C16.3 semapv:UnspecifiedMatching DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref ICD9CM:151.2 semapv:UnspecifiedMatching -DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref UMLS_CUI:C0153419 semapv:UnspecifiedMatching +DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref UMLS:C0153419 semapv:UnspecifiedMatching DOID:10548 cardia cancer oboInOwl:hasDbXref ICD10CM:C16.0 semapv:UnspecifiedMatching DOID:10548 cardia cancer oboInOwl:hasDbXref ICD9CM:151.0 semapv:UnspecifiedMatching -DOID:10548 cardia cancer oboInOwl:hasDbXref UMLS_CUI:C0153417 semapv:UnspecifiedMatching +DOID:10548 cardia cancer oboInOwl:hasDbXref UMLS:C0153417 semapv:UnspecifiedMatching DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref ICD10CM:H68.01 semapv:UnspecifiedMatching DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref ICD9CM:381.51 semapv:UnspecifiedMatching -DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref UMLS_CUI:C0155429 semapv:UnspecifiedMatching +DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref UMLS:C0155429 semapv:UnspecifiedMatching DOID:10554 meningoencephalitis oboInOwl:hasDbXref ICD10CM:A69.22 semapv:UnspecifiedMatching DOID:10554 meningoencephalitis oboInOwl:hasDbXref MESH:D008590 semapv:UnspecifiedMatching DOID:10554 meningoencephalitis oboInOwl:hasDbXref NCI:C34813 semapv:UnspecifiedMatching -DOID:10554 meningoencephalitis oboInOwl:hasDbXref UMLS_CUI:C0025309 semapv:UnspecifiedMatching +DOID:10554 meningoencephalitis oboInOwl:hasDbXref UMLS:C0025309 semapv:UnspecifiedMatching DOID:10556 supine hypotensive syndrome oboInOwl:hasDbXref ICD9CM:669.20 semapv:UnspecifiedMatching -DOID:10556 supine hypotensive syndrome oboInOwl:hasDbXref UMLS_CUI:C0157456 semapv:UnspecifiedMatching +DOID:10556 supine hypotensive syndrome oboInOwl:hasDbXref UMLS:C0157456 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref GARD:3295 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ICD10CM:E72.03 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref MEDDRA:10051707 semapv:UnspecifiedMatching @@ -17811,37 +18123,37 @@ DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref MESH:D009800 semapv:Unsp DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref NCI:C84940 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ORDO:534 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0028860 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref UMLS:C0028860 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome skos:exactMatch OMIM:309000 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.1 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.4 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD9CM:102.1 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD9CM:102.4 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref NCI:C41354 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C0153234 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C0276007 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C1517744 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref UMLS:C0153234 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref UMLS:C0276007 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref UMLS:C1517744 semapv:UnspecifiedMatching DOID:10568 early yaws oboInOwl:hasDbXref ICD10CM:A66.0 semapv:UnspecifiedMatching DOID:10568 early yaws oboInOwl:hasDbXref ICD10CM:A66.6 semapv:UnspecifiedMatching DOID:10568 early yaws oboInOwl:hasDbXref ICD9CM:102.0 semapv:UnspecifiedMatching DOID:10568 early yaws oboInOwl:hasDbXref ICD9CM:102.6 semapv:UnspecifiedMatching DOID:10568 early yaws oboInOwl:hasDbXref NCI:C41352 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0275990 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0275998 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0343834 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref UMLS:C0275990 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref UMLS:C0275998 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref UMLS:C0343834 semapv:UnspecifiedMatching DOID:10573 osteomalacia oboInOwl:hasDbXref GARD:7285 semapv:UnspecifiedMatching DOID:10573 osteomalacia oboInOwl:hasDbXref ICD9CM:268.2 semapv:UnspecifiedMatching DOID:10573 osteomalacia oboInOwl:hasDbXref NCI:C26838 semapv:UnspecifiedMatching -DOID:10573 osteomalacia oboInOwl:hasDbXref UMLS_CUI:C0029442 semapv:UnspecifiedMatching +DOID:10573 osteomalacia oboInOwl:hasDbXref UMLS:C0029442 semapv:UnspecifiedMatching DOID:10573 osteomalacia skos:exactMatch MESH:D010018 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref ICD9CM:275.4 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref MESH:D002128 semapv:UnspecifiedMatching -DOID:10575 calcium metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0006705 semapv:UnspecifiedMatching +DOID:10575 calcium metabolism disease oboInOwl:hasDbXref UMLS:C0006705 semapv:UnspecifiedMatching DOID:10579 leukodystrophy oboInOwl:hasDbXref GARD:6895 semapv:UnspecifiedMatching DOID:10579 leukodystrophy oboInOwl:hasDbXref ICD9CM:330.0 semapv:UnspecifiedMatching DOID:10579 leukodystrophy oboInOwl:hasDbXref NCI:C61253 semapv:UnspecifiedMatching -DOID:10579 leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023520 semapv:UnspecifiedMatching +DOID:10579 leukodystrophy oboInOwl:hasDbXref UMLS:C0023520 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref GARD:3230 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ICD10CM:E75.25 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching @@ -17849,7 +18161,7 @@ DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref NCI:C61251 semapv:Uns DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ORDO:512 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023522 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C0023522 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref GARD:5691 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref ICD10CM:G60.1 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref ICD9CM:356.3 semapv:UnspecifiedMatching @@ -17857,7 +18169,7 @@ DOID:10582 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatc DOID:10582 Refsum disease oboInOwl:hasDbXref NCI:C85043 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref ORDO:773 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref UMLS_CUI:C0034960 semapv:UnspecifiedMatching +DOID:10582 Refsum disease oboInOwl:hasDbXref UMLS:C0034960 semapv:UnspecifiedMatching DOID:10582 Refsum disease skos:exactMatch OMIM:266500 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref GARD:5694 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.52 semapv:UnspecifiedMatching @@ -17866,27 +18178,27 @@ DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref MESH:D012174 semapv:Unspecifi DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref NCI:C85045 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref OMIMPS:268000 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref ORDO:791 semapv:UnspecifiedMatching -DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0035334 semapv:UnspecifiedMatching -DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0220701 semapv:UnspecifiedMatching +DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0035334 semapv:UnspecifiedMatching +DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0220701 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa skos:exactMatch OMIMPS:268000 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref GARD:6844 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref ICD10CM:E75.23 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref MESH:D007965 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref NCI:C61254 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching -DOID:10587 Krabbe disease oboInOwl:hasDbXref UMLS_CUI:C0023521 semapv:UnspecifiedMatching +DOID:10587 Krabbe disease oboInOwl:hasDbXref UMLS:C0023521 semapv:UnspecifiedMatching DOID:10587 Krabbe disease skos:exactMatch OMIM:245200 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref ICD10CM:E71.52 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref NCI:C61252 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0162309 semapv:UnspecifiedMatching +DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0162309 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy skos:exactMatch MESH:D000326 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy skos:exactMatch OMIM:300100 semapv:UnspecifiedMatching DOID:1059 intellectual disability oboInOwl:hasDbXref NCI:C84392 semapv:UnspecifiedMatching -DOID:1059 intellectual disability oboInOwl:hasDbXref UMLS_CUI:C0025362 semapv:UnspecifiedMatching +DOID:1059 intellectual disability oboInOwl:hasDbXref UMLS:C0025362 semapv:UnspecifiedMatching DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref ICD9CM:642.40 semapv:UnspecifiedMatching -DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref UMLS_CUI:C0156664 semapv:UnspecifiedMatching +DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref UMLS:C0156664 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref ICD10CM:O14 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref MESH:D011225 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref NCI:C85021 semapv:UnspecifiedMatching @@ -17896,61 +18208,61 @@ DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609403 semapv:UnspecifiedMatchi DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609404 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref ORDO:275555 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref UMLS_CUI:C0032914 semapv:UnspecifiedMatching +DOID:10591 pre-eclampsia oboInOwl:hasDbXref UMLS:C0032914 semapv:UnspecifiedMatching DOID:10593 idiopathic progressive polyneuropathy oboInOwl:hasDbXref ICD9CM:356.4 semapv:UnspecifiedMatching -DOID:10593 idiopathic progressive polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0154756 semapv:UnspecifiedMatching +DOID:10593 idiopathic progressive polyneuropathy oboInOwl:hasDbXref UMLS:C0154756 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref GARD:6034 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD9CM:356.1 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref NCI:C75467 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref OMIMPS:118220 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS_CUI:C0007959 semapv:UnspecifiedMatching +DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C0007959 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease skos:exactMatch OMIMPS:118220 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD10CM:A15.6 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:010.1 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:012.0 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref MESH:D014396 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref NCI:C26898 semapv:UnspecifiedMatching -DOID:106 pleural tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041326 semapv:UnspecifiedMatching -DOID:106 pleural tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152531 semapv:UnspecifiedMatching +DOID:106 pleural tuberculosis oboInOwl:hasDbXref UMLS:C0041326 semapv:UnspecifiedMatching +DOID:106 pleural tuberculosis oboInOwl:hasDbXref UMLS:C0152531 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref GARD:6569 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref ICD10CM:E72.02 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref MESH:D006250 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref NCI:C84748 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref OMIM:234500 semapv:UnspecifiedMatching -DOID:1060 Hartnup disease oboInOwl:hasDbXref UMLS_CUI:C0018609 semapv:UnspecifiedMatching +DOID:1060 Hartnup disease oboInOwl:hasDbXref UMLS:C0018609 semapv:UnspecifiedMatching DOID:1060 Hartnup disease skos:exactMatch OMIM:234500 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref ICD10CM:F95.1 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref ICD9CM:307.22 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref NCI:C116768 semapv:UnspecifiedMatching -DOID:10600 chronic tic disorder oboInOwl:hasDbXref UMLS_CUI:C0008701 semapv:UnspecifiedMatching +DOID:10600 chronic tic disorder oboInOwl:hasDbXref UMLS:C0008701 semapv:UnspecifiedMatching DOID:10603 glucose intolerance oboInOwl:hasDbXref ICD10CM:R73.03 semapv:UnspecifiedMatching DOID:10603 glucose intolerance oboInOwl:hasDbXref MESH:D018149 semapv:UnspecifiedMatching DOID:10603 glucose intolerance oboInOwl:hasDbXref NCI:C34646 semapv:UnspecifiedMatching -DOID:10603 glucose intolerance oboInOwl:hasDbXref UMLS_CUI:C0271650 semapv:UnspecifiedMatching +DOID:10603 glucose intolerance oboInOwl:hasDbXref UMLS:C0271650 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref ICD10CM:E73 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref MESH:D007787 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref NCI:C3154 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref OMIM:223100 semapv:UnspecifiedMatching -DOID:10604 lactose intolerance oboInOwl:hasDbXref UMLS_CUI:C0022951 semapv:UnspecifiedMatching +DOID:10604 lactose intolerance oboInOwl:hasDbXref UMLS:C0022951 semapv:UnspecifiedMatching DOID:10604 lactose intolerance skos:exactMatch MESH:D007787 semapv:UnspecifiedMatching DOID:10604 lactose intolerance skos:exactMatch OMIM:223100 semapv:UnspecifiedMatching DOID:10605 short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching DOID:10605 short bowel syndrome oboInOwl:hasDbXref NCI:C99059 semapv:UnspecifiedMatching -DOID:10605 short bowel syndrome oboInOwl:hasDbXref UMLS_CUI:C0036992 semapv:UnspecifiedMatching +DOID:10605 short bowel syndrome oboInOwl:hasDbXref UMLS:C0036992 semapv:UnspecifiedMatching DOID:10606 blind loop syndrome oboInOwl:hasDbXref ICD10CM:K90.2 semapv:UnspecifiedMatching DOID:10606 blind loop syndrome oboInOwl:hasDbXref ICD9CM:579.2 semapv:UnspecifiedMatching DOID:10606 blind loop syndrome oboInOwl:hasDbXref MESH:D001765 semapv:UnspecifiedMatching DOID:10606 blind loop syndrome oboInOwl:hasDbXref NCI:C34431 semapv:UnspecifiedMatching -DOID:10606 blind loop syndrome oboInOwl:hasDbXref UMLS_CUI:C0005750 semapv:UnspecifiedMatching +DOID:10606 blind loop syndrome oboInOwl:hasDbXref UMLS:C0005750 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref GARD:7824 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref ICD10CM:K90.1 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref ICD9CM:579.1 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref MESH:D013182 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref NCI:C45428 semapv:UnspecifiedMatching -DOID:10607 tropical sprue oboInOwl:hasDbXref UMLS_CUI:C0038054 semapv:UnspecifiedMatching +DOID:10607 tropical sprue oboInOwl:hasDbXref UMLS:C0038054 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref EFO:0001060 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref GARD:11998 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref ICD10CM:K90.0 semapv:UnspecifiedMatching @@ -17967,60 +18279,60 @@ DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612008 semapv:UnspecifiedMatch DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612009 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612011 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref ORDO:555 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref UMLS_CUI:C0007570 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref UMLS:C0007570 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref GARD:5700 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref ICD10CM:E55.0 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref MESH:D012279 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref NCI:C26878 semapv:UnspecifiedMatching -DOID:10609 rickets oboInOwl:hasDbXref UMLS_CUI:C0035579 semapv:UnspecifiedMatching +DOID:10609 rickets oboInOwl:hasDbXref UMLS:C0035579 semapv:UnspecifiedMatching DOID:10609 rickets skos:exactMatch MESH:D012279 semapv:UnspecifiedMatching DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref ICD10CM:K90.3 semapv:UnspecifiedMatching DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref ICD9CM:579.4 semapv:UnspecifiedMatching -DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref UMLS_CUI:C0152166 semapv:UnspecifiedMatching +DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref UMLS:C0152166 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref MESH:D011504 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref OMIM:226300 semapv:UnspecifiedMatching -DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref UMLS_CUI:C0033680 semapv:UnspecifiedMatching +DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref UMLS:C0033680 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy skos:exactMatch OMIM:226300 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD10CM:L50.0 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD9CM:708.0 semapv:UnspecifiedMatching -DOID:10612 allergic urticaria oboInOwl:hasDbXref UMLS_CUI:C0149526 semapv:UnspecifiedMatching +DOID:10612 allergic urticaria oboInOwl:hasDbXref UMLS:C0149526 semapv:UnspecifiedMatching DOID:10615 acute gonococcal cervicitis oboInOwl:hasDbXref ICD9CM:098.15 semapv:UnspecifiedMatching -DOID:10615 acute gonococcal cervicitis oboInOwl:hasDbXref UMLS_CUI:C0153195 semapv:UnspecifiedMatching +DOID:10615 acute gonococcal cervicitis oboInOwl:hasDbXref UMLS:C0153195 semapv:UnspecifiedMatching DOID:10616 acute cervicitis oboInOwl:hasDbXref NCI:C27056 semapv:UnspecifiedMatching -DOID:10616 acute cervicitis oboInOwl:hasDbXref UMLS_CUI:C0269061 semapv:UnspecifiedMatching +DOID:10616 acute cervicitis oboInOwl:hasDbXref UMLS:C0269061 semapv:UnspecifiedMatching DOID:10619 lymph node cancer oboInOwl:hasDbXref GARD:6932 semapv:UnspecifiedMatching DOID:10619 lymph node cancer oboInOwl:hasDbXref NCI:C35497 semapv:UnspecifiedMatching -DOID:10619 lymph node cancer oboInOwl:hasDbXref UMLS_CUI:C0596869 semapv:UnspecifiedMatching +DOID:10619 lymph node cancer oboInOwl:hasDbXref UMLS:C0596869 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref GARD:9118 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref MESH:D005198 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C3034 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C4377 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref OMIMPS:134600 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref ORDO:3337 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0015624 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0341703 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS:C0015624 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS:C0341703 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome skos:exactMatch MESH:D005198 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome skos:exactMatch OMIMPS:134600 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD10CM:H47.21 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD9CM:377.11 semapv:UnspecifiedMatching -DOID:10627 primary optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0155291 semapv:UnspecifiedMatching +DOID:10627 primary optic atrophy oboInOwl:hasDbXref UMLS:C0155291 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref GARD:12085 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref ICD10CM:Q11.2 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref ICD9CM:743.1 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref MESH:D008850 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref NCI:C98989 semapv:UnspecifiedMatching -DOID:10629 microphthalmia oboInOwl:hasDbXref UMLS_CUI:C0026010 semapv:UnspecifiedMatching +DOID:10629 microphthalmia oboInOwl:hasDbXref UMLS:C0026010 semapv:UnspecifiedMatching DOID:1063 interstitial nephritis oboInOwl:hasDbXref ICD10CM:N12 semapv:UnspecifiedMatching DOID:1063 interstitial nephritis oboInOwl:hasDbXref MESH:D009395 semapv:UnspecifiedMatching DOID:1063 interstitial nephritis oboInOwl:hasDbXref NCI:C26834 semapv:UnspecifiedMatching -DOID:1063 interstitial nephritis oboInOwl:hasDbXref UMLS_CUI:C0027707 semapv:UnspecifiedMatching +DOID:1063 interstitial nephritis oboInOwl:hasDbXref UMLS:C0027707 semapv:UnspecifiedMatching DOID:10631 partial optic atrophy oboInOwl:hasDbXref ICD9CM:377.15 semapv:UnspecifiedMatching -DOID:10631 partial optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0155295 semapv:UnspecifiedMatching +DOID:10631 partial optic atrophy oboInOwl:hasDbXref UMLS:C0155295 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref GARD:7898 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref MESH:D014929 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref NCI:C35133 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref ORDO:3463 semapv:UnspecifiedMatching -DOID:10632 Wolfram syndrome oboInOwl:hasDbXref UMLS_CUI:C0043207 semapv:UnspecifiedMatching +DOID:10632 Wolfram syndrome oboInOwl:hasDbXref UMLS:C0043207 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref GARD:6236 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref MESH:D003554 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref NCI:C129932 semapv:UnspecifiedMatching @@ -18028,18 +18340,18 @@ DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref ORDO:213 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref UMLS_CUI:C2931187 semapv:UnspecifiedMatching +DOID:1064 cystinosis oboInOwl:hasDbXref UMLS:C2931187 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref ICD10CM:F21 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref ICD9CM:301.22 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref MESH:D012569 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref NCI:C92632 semapv:UnspecifiedMatching -DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref UMLS_CUI:C0036363 semapv:UnspecifiedMatching +DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref UMLS:C0036363 semapv:UnspecifiedMatching DOID:10648 acute inferoposterior infarction oboInOwl:hasDbXref ICD9CM:410.30 semapv:UnspecifiedMatching -DOID:10648 acute inferoposterior infarction oboInOwl:hasDbXref UMLS_CUI:C0155640 semapv:UnspecifiedMatching +DOID:10648 acute inferoposterior infarction oboInOwl:hasDbXref UMLS:C0155640 semapv:UnspecifiedMatching DOID:10649 acute inferolateral myocardial infarction oboInOwl:hasDbXref ICD9CM:410.20 semapv:UnspecifiedMatching -DOID:10649 acute inferolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155636 semapv:UnspecifiedMatching +DOID:10649 acute inferolateral myocardial infarction oboInOwl:hasDbXref UMLS:C0155636 semapv:UnspecifiedMatching DOID:10651 acute anterolateral myocardial infarction oboInOwl:hasDbXref ICD9CM:410.0 semapv:UnspecifiedMatching -DOID:10651 acute anterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155627 semapv:UnspecifiedMatching +DOID:10651 acute anterolateral myocardial infarction oboInOwl:hasDbXref UMLS:C0155627 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref EFO:0000249 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref GARD:10254 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching @@ -18047,20 +18359,20 @@ DOID:10652 Alzheimer's disease oboInOwl:hasDbXref ICD9CM:331.0 semapv:Unspecifie DOID:10652 Alzheimer's disease oboInOwl:hasDbXref KEGG:05010 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref MESH:D000544 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref NCI:C2866 semapv:UnspecifiedMatching -DOID:10652 Alzheimer's disease oboInOwl:hasDbXref UMLS_CUI:C0002395 semapv:UnspecifiedMatching +DOID:10652 Alzheimer's disease oboInOwl:hasDbXref UMLS:C0002395 semapv:UnspecifiedMatching DOID:10655 lipoma of colon oboInOwl:hasDbXref NCI:C5493 semapv:UnspecifiedMatching -DOID:10655 lipoma of colon oboInOwl:hasDbXref UMLS_CUI:C0940607 semapv:UnspecifiedMatching +DOID:10655 lipoma of colon oboInOwl:hasDbXref UMLS:C0940607 semapv:UnspecifiedMatching DOID:10656 colon leiomyoma oboInOwl:hasDbXref NCI:C5492 semapv:UnspecifiedMatching -DOID:10656 colon leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333092 semapv:UnspecifiedMatching +DOID:10656 colon leiomyoma oboInOwl:hasDbXref UMLS:C1333092 semapv:UnspecifiedMatching DOID:10657 colonic lymphangioma oboInOwl:hasDbXref NCI:C5500 semapv:UnspecifiedMatching -DOID:10657 colonic lymphangioma oboInOwl:hasDbXref UMLS_CUI:C1333094 semapv:UnspecifiedMatching +DOID:10657 colonic lymphangioma oboInOwl:hasDbXref UMLS:C1333094 semapv:UnspecifiedMatching DOID:1066 residual stage of open angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.15 semapv:UnspecifiedMatching DOID:1066 residual stage of open angle glaucoma oboInOwl:hasDbXref ICD9CM:365.15 semapv:UnspecifiedMatching -DOID:1066 residual stage of open angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154944 semapv:UnspecifiedMatching +DOID:1066 residual stage of open angle glaucoma oboInOwl:hasDbXref UMLS:C0154944 semapv:UnspecifiedMatching DOID:10660 mediastinum neuroblastoma oboInOwl:hasDbXref NCI:C6628 semapv:UnspecifiedMatching -DOID:10660 mediastinum neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1334673 semapv:UnspecifiedMatching +DOID:10660 mediastinum neuroblastoma oboInOwl:hasDbXref UMLS:C1334673 semapv:UnspecifiedMatching DOID:10661 mediastinum ganglioneuroblastoma oboInOwl:hasDbXref NCI:C6627 semapv:UnspecifiedMatching -DOID:10661 mediastinum ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1334653 semapv:UnspecifiedMatching +DOID:10661 mediastinum ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1334653 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref EFO:0004190 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.1 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.1 semapv:UnspecifiedMatching @@ -18079,7 +18391,7 @@ DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedM DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611276 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:613100 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017612 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref UMLS:C0017612 semapv:UnspecifiedMatching DOID:1068 juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching DOID:1068 juvenile glaucoma oboInOwl:hasDbXref ORDO:98977 semapv:UnspecifiedMatching DOID:1068 juvenile glaucoma skos:exactMatch OMIM:137750 semapv:UnspecifiedMatching @@ -18087,60 +18399,60 @@ DOID:10686 lactocele oboInOwl:hasDbXref ICD10CM:N64.89 semapv:UnspecifiedMatchin DOID:10686 lactocele oboInOwl:hasDbXref ICD9CM:611.5 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref MESH:C535998 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref NCI:C3515 semapv:UnspecifiedMatching -DOID:10686 lactocele oboInOwl:hasDbXref UMLS_CUI:C0152243 semapv:UnspecifiedMatching +DOID:10686 lactocele oboInOwl:hasDbXref UMLS:C0152243 semapv:UnspecifiedMatching DOID:10688 hypertrophy of breast oboInOwl:hasDbXref ICD10CM:N62 semapv:UnspecifiedMatching DOID:10688 hypertrophy of breast oboInOwl:hasDbXref ICD9CM:611.1 semapv:UnspecifiedMatching DOID:10688 hypertrophy of breast oboInOwl:hasDbXref NCI:C3125 semapv:UnspecifiedMatching -DOID:10688 hypertrophy of breast oboInOwl:hasDbXref UMLS_CUI:C0020565 semapv:UnspecifiedMatching +DOID:10688 hypertrophy of breast oboInOwl:hasDbXref UMLS:C0020565 semapv:UnspecifiedMatching DOID:10690 mastitis oboInOwl:hasDbXref MESH:D008413 semapv:UnspecifiedMatching DOID:10690 mastitis oboInOwl:hasDbXref NCI:C53662 semapv:UnspecifiedMatching -DOID:10690 mastitis oboInOwl:hasDbXref UMLS_CUI:C0024894 semapv:UnspecifiedMatching +DOID:10690 mastitis oboInOwl:hasDbXref UMLS:C0024894 semapv:UnspecifiedMatching DOID:10691 fat necrosis of breast oboInOwl:hasDbXref ICD10CM:N64.1 semapv:UnspecifiedMatching DOID:10691 fat necrosis of breast oboInOwl:hasDbXref ICD9CM:611.3 semapv:UnspecifiedMatching DOID:10691 fat necrosis of breast oboInOwl:hasDbXref NCI:C3661 semapv:UnspecifiedMatching -DOID:10691 fat necrosis of breast oboInOwl:hasDbXref UMLS_CUI:C0156321 semapv:UnspecifiedMatching +DOID:10691 fat necrosis of breast oboInOwl:hasDbXref UMLS:C0156321 semapv:UnspecifiedMatching DOID:10697 chronic endophthalmitis oboInOwl:hasDbXref ICD9CM:360.03 semapv:UnspecifiedMatching -DOID:10697 chronic endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0154774 semapv:UnspecifiedMatching +DOID:10697 chronic endophthalmitis oboInOwl:hasDbXref UMLS:C0154774 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref GARD:9815 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref ICD10CM:B66.4 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref ICD9CM:121.2 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref MESH:D010237 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref NCI:C84995 semapv:UnspecifiedMatching -DOID:10699 paragonimiasis oboInOwl:hasDbXref UMLS_CUI:C0030424 semapv:UnspecifiedMatching +DOID:10699 paragonimiasis oboInOwl:hasDbXref UMLS:C0030424 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.11 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref ICD9CM:365.11 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref MESH:D005902 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref NCI:C35394 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref OMIM:137760 semapv:UnspecifiedMatching -DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0339573 semapv:UnspecifiedMatching +DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref UMLS:C0339573 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma skos:exactMatch OMIM:137760 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref ICD10CM:A07.1 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref ICD9CM:007.1 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref MEDDRA:0017536 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref MESH:D005873 semapv:UnspecifiedMatching -DOID:10718 giardiasis oboInOwl:hasDbXref UMLS_CUI:C0017536 semapv:UnspecifiedMatching +DOID:10718 giardiasis oboInOwl:hasDbXref UMLS:C0017536 semapv:UnspecifiedMatching DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref GARD:6549 semapv:UnspecifiedMatching DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref ICD9CM:242.00 semapv:UnspecifiedMatching -DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref UMLS_CUI:C0154138 semapv:UnspecifiedMatching +DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref UMLS:C0154138 semapv:UnspecifiedMatching DOID:1073 renal hypertension oboInOwl:hasDbXref MESH:D006977 semapv:UnspecifiedMatching DOID:1073 renal hypertension oboInOwl:hasDbXref NCI:C3121 semapv:UnspecifiedMatching -DOID:1073 renal hypertension oboInOwl:hasDbXref UMLS_CUI:C0020544 semapv:UnspecifiedMatching +DOID:1073 renal hypertension oboInOwl:hasDbXref UMLS:C0020544 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref ICD10CM:N19 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref ICD9CM:586 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref MESH:D051437 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref NCI:C4376 semapv:UnspecifiedMatching -DOID:1074 kidney failure oboInOwl:hasDbXref UMLS_CUI:C0035078 semapv:UnspecifiedMatching +DOID:1074 kidney failure oboInOwl:hasDbXref UMLS:C0035078 semapv:UnspecifiedMatching DOID:10742 cerebral lipidosis oboInOwl:hasDbXref ICD9CM:330.1 semapv:UnspecifiedMatching -DOID:10742 cerebral lipidosis oboInOwl:hasDbXref UMLS_CUI:C0007788 semapv:UnspecifiedMatching +DOID:10742 cerebral lipidosis oboInOwl:hasDbXref UMLS:C0007788 semapv:UnspecifiedMatching DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.1 semapv:UnspecifiedMatching DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref ICD9CM:183.3 semapv:UnspecifiedMatching DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref NCI:C179934 semapv:UnspecifiedMatching -DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346866 semapv:UnspecifiedMatching +DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref UMLS:C0346866 semapv:UnspecifiedMatching DOID:10754 otitis media oboInOwl:hasDbXref ICD10CM:H66.9 semapv:UnspecifiedMatching DOID:10754 otitis media oboInOwl:hasDbXref ICD9CM:382.9 semapv:UnspecifiedMatching DOID:10754 otitis media oboInOwl:hasDbXref MESH:D010033 semapv:UnspecifiedMatching DOID:10754 otitis media oboInOwl:hasDbXref NCI:C34885 semapv:UnspecifiedMatching -DOID:10754 otitis media oboInOwl:hasDbXref UMLS_CUI:C0029882 semapv:UnspecifiedMatching +DOID:10754 otitis media oboInOwl:hasDbXref UMLS:C0029882 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.2 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.21 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.22 semapv:UnspecifiedMatching @@ -18148,131 +18460,131 @@ DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.2 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.21 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.22 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref MESH:D059270 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155448 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155449 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155450 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref UMLS:C0155448 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref UMLS:C0155449 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref UMLS:C0155450 semapv:UnspecifiedMatching DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref ICD10CM:N11 semapv:UnspecifiedMatching DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref ICD9CM:590.0 semapv:UnspecifiedMatching DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref NCI:C123216 semapv:UnspecifiedMatching -DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0085697 semapv:UnspecifiedMatching +DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref UMLS:C0085697 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref GARD:8229 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref ICD10CM:K76.6 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref ICD9CM:572.3 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref MESH:D006975 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref NCI:C3119 semapv:UnspecifiedMatching -DOID:10762 portal hypertension oboInOwl:hasDbXref UMLS_CUI:C0020541 semapv:UnspecifiedMatching +DOID:10762 portal hypertension oboInOwl:hasDbXref UMLS:C0020541 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref EFO:0000537 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref ICD10CM:I10 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref ICD9CM:401-405.99 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref MESH:D006973 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref NCI:C3117 semapv:UnspecifiedMatching -DOID:10763 hypertension oboInOwl:hasDbXref UMLS_CUI:C0020538 semapv:UnspecifiedMatching +DOID:10763 hypertension oboInOwl:hasDbXref UMLS:C0020538 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref GARD:9430 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:M31.19 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref NCI:C78797 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS_CUI:C0034155 semapv:UnspecifiedMatching +DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0034155 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura skos:exactMatch OMIM:274150 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref GARD:183 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref ICD10CM:A20.0 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref ICD9CM:020.0 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching -DOID:10773 bubonic plague oboInOwl:hasDbXref UMLS_CUI:C0282312 semapv:UnspecifiedMatching +DOID:10773 bubonic plague oboInOwl:hasDbXref UMLS:C0282312 semapv:UnspecifiedMatching DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref ICD10CM:I40.1 semapv:UnspecifiedMatching DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref ICD9CM:422.91 semapv:UnspecifiedMatching -DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155689 semapv:UnspecifiedMatching +DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref UMLS:C0155689 semapv:UnspecifiedMatching DOID:10779 septic myocarditis oboInOwl:hasDbXref ICD10CM:I40.0 semapv:UnspecifiedMatching DOID:10779 septic myocarditis oboInOwl:hasDbXref ICD9CM:422.92 semapv:UnspecifiedMatching -DOID:10779 septic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155690 semapv:UnspecifiedMatching +DOID:10779 septic myocarditis oboInOwl:hasDbXref UMLS:C0155690 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD10CM:D75.0 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD9CM:289.6 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref NCI:C26955 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref OMIMPS:133100 semapv:UnspecifiedMatching -DOID:10780 primary polycythemia oboInOwl:hasDbXref UMLS_CUI:C0152264 semapv:UnspecifiedMatching +DOID:10780 primary polycythemia oboInOwl:hasDbXref UMLS:C0152264 semapv:UnspecifiedMatching DOID:10780 primary polycythemia skos:exactMatch OMIMPS:133100 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref ICD10CM:I88.0 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref ICD9CM:289.2 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref MESH:D008640 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref NCI:C26830 semapv:UnspecifiedMatching -DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0025469 semapv:UnspecifiedMatching +DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref UMLS:C0025469 semapv:UnspecifiedMatching DOID:10783 methemoglobinemia oboInOwl:hasDbXref ICD10CM:D74 semapv:UnspecifiedMatching DOID:10783 methemoglobinemia oboInOwl:hasDbXref ICD9CM:289.7 semapv:UnspecifiedMatching DOID:10783 methemoglobinemia oboInOwl:hasDbXref MESH:D008708 semapv:UnspecifiedMatching DOID:10783 methemoglobinemia oboInOwl:hasDbXref NCI:C34817 semapv:UnspecifiedMatching -DOID:10783 methemoglobinemia oboInOwl:hasDbXref UMLS_CUI:C0025637 semapv:UnspecifiedMatching +DOID:10783 methemoglobinemia oboInOwl:hasDbXref UMLS:C0025637 semapv:UnspecifiedMatching DOID:10787 premature menopause oboInOwl:hasDbXref ICD10CM:E28.31 semapv:UnspecifiedMatching DOID:10787 premature menopause oboInOwl:hasDbXref ICD9CM:256.31 semapv:UnspecifiedMatching DOID:10787 premature menopause oboInOwl:hasDbXref MESH:D008594 semapv:UnspecifiedMatching DOID:10787 premature menopause oboInOwl:hasDbXref NCI:C80099 semapv:UnspecifiedMatching -DOID:10787 premature menopause oboInOwl:hasDbXref UMLS_CUI:C0025322 semapv:UnspecifiedMatching +DOID:10787 premature menopause oboInOwl:hasDbXref UMLS:C0025322 semapv:UnspecifiedMatching DOID:1079 setariasis oboInOwl:hasDbXref MESH:D012719 semapv:UnspecifiedMatching -DOID:1079 setariasis oboInOwl:hasDbXref UMLS_CUI:C0036850 semapv:UnspecifiedMatching +DOID:1079 setariasis oboInOwl:hasDbXref UMLS:C0036850 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref ICD10CM:J32.1 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref ICD9CM:473.1 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref NCI:C34473 semapv:UnspecifiedMatching -DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008683 semapv:UnspecifiedMatching +DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref UMLS:C0008683 semapv:UnspecifiedMatching DOID:10791 frontal sinusitis oboInOwl:hasDbXref ICD10CM:J32.1 semapv:UnspecifiedMatching DOID:10791 frontal sinusitis oboInOwl:hasDbXref MESH:D015522 semapv:UnspecifiedMatching DOID:10791 frontal sinusitis oboInOwl:hasDbXref NCI:C34626 semapv:UnspecifiedMatching -DOID:10791 frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0016735 semapv:UnspecifiedMatching +DOID:10791 frontal sinusitis oboInOwl:hasDbXref UMLS:C0016735 semapv:UnspecifiedMatching DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J32.0 semapv:UnspecifiedMatching DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref ICD9CM:473.0 semapv:UnspecifiedMatching DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref NCI:C34477 semapv:UnspecifiedMatching -DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008698 semapv:UnspecifiedMatching +DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref UMLS:C0008698 semapv:UnspecifiedMatching DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref ICD10CM:J32.3 semapv:UnspecifiedMatching DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref ICD9CM:473.3 semapv:UnspecifiedMatching DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref NCI:C34480 semapv:UnspecifiedMatching -DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008712 semapv:UnspecifiedMatching +DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref UMLS:C0008712 semapv:UnspecifiedMatching DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref ICD10CM:J32.3 semapv:UnspecifiedMatching DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref MESH:D015524 semapv:UnspecifiedMatching DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref NCI:C35031 semapv:UnspecifiedMatching -DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref UMLS_CUI:C0037886 semapv:UnspecifiedMatching +DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref UMLS:C0037886 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref ICD10CM:B74 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref ICD9CM:125.9 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref MESH:D005368 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref NCI:C34611 semapv:UnspecifiedMatching -DOID:1080 filariasis oboInOwl:hasDbXref UMLS_CUI:C0016085 semapv:UnspecifiedMatching +DOID:1080 filariasis oboInOwl:hasDbXref UMLS:C0016085 semapv:UnspecifiedMatching DOID:1080 filariasis skos:exactMatch MESH:D005368 semapv:UnspecifiedMatching DOID:10802 acute gonococcal epididymo-orchitis oboInOwl:hasDbXref ICD9CM:098.13 semapv:UnspecifiedMatching -DOID:10802 acute gonococcal epididymo-orchitis oboInOwl:hasDbXref UMLS_CUI:C0153193 semapv:UnspecifiedMatching +DOID:10802 acute gonococcal epididymo-orchitis oboInOwl:hasDbXref UMLS:C0153193 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref ICD10CM:K25 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref ICD9CM:531 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref MESH:D013276 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref NCI:C3388 semapv:UnspecifiedMatching -DOID:10808 gastric ulcer oboInOwl:hasDbXref UMLS_CUI:C0038358 semapv:UnspecifiedMatching +DOID:10808 gastric ulcer oboInOwl:hasDbXref UMLS:C0038358 semapv:UnspecifiedMatching DOID:1081 mansonelliasis oboInOwl:hasDbXref GARD:8216 semapv:UnspecifiedMatching DOID:1081 mansonelliasis oboInOwl:hasDbXref ICD10CM:B74.4 semapv:UnspecifiedMatching DOID:1081 mansonelliasis oboInOwl:hasDbXref MESH:D008368 semapv:UnspecifiedMatching DOID:1081 mansonelliasis oboInOwl:hasDbXref NCI:C84882 semapv:UnspecifiedMatching -DOID:1081 mansonelliasis oboInOwl:hasDbXref UMLS_CUI:C0024759 semapv:UnspecifiedMatching +DOID:1081 mansonelliasis oboInOwl:hasDbXref UMLS:C0024759 semapv:UnspecifiedMatching DOID:10810 tibialis tendinitis oboInOwl:hasDbXref ICD9CM:726.72 semapv:UnspecifiedMatching -DOID:10810 tibialis tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158321 semapv:UnspecifiedMatching +DOID:10810 tibialis tendinitis oboInOwl:hasDbXref UMLS:C0158321 semapv:UnspecifiedMatching DOID:10811 nasal cavity cancer oboInOwl:hasDbXref ICD10CM:C30.0 semapv:UnspecifiedMatching DOID:10811 nasal cavity cancer oboInOwl:hasDbXref ICD9CM:160.0 semapv:UnspecifiedMatching DOID:10811 nasal cavity cancer oboInOwl:hasDbXref NCI:C4918 semapv:UnspecifiedMatching -DOID:10811 nasal cavity cancer oboInOwl:hasDbXref UMLS_CUI:C0728864 semapv:UnspecifiedMatching +DOID:10811 nasal cavity cancer oboInOwl:hasDbXref UMLS:C0728864 semapv:UnspecifiedMatching DOID:10812 nasal cavity olfactory neuroblastoma oboInOwl:hasDbXref NCI:C7604 semapv:UnspecifiedMatching -DOID:10812 nasal cavity olfactory neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1334923 semapv:UnspecifiedMatching +DOID:10812 nasal cavity olfactory neuroblastoma oboInOwl:hasDbXref UMLS:C1334923 semapv:UnspecifiedMatching DOID:10813 nasal cavity lymphoma oboInOwl:hasDbXref NCI:C6074 semapv:UnspecifiedMatching -DOID:10813 nasal cavity lymphoma oboInOwl:hasDbXref UMLS_CUI:C1334921 semapv:UnspecifiedMatching +DOID:10813 nasal cavity lymphoma oboInOwl:hasDbXref UMLS:C1334921 semapv:UnspecifiedMatching DOID:10816 duodenum adenocarcinoma oboInOwl:hasDbXref NCI:C7889 semapv:UnspecifiedMatching -DOID:10816 duodenum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0278804 semapv:UnspecifiedMatching +DOID:10816 duodenum adenocarcinoma oboInOwl:hasDbXref UMLS:C0278804 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref ICD10CM:F65.52 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref ICD9CM:302.84 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref MESH:D012448 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref NCI:C94358 semapv:UnspecifiedMatching -DOID:10817 sexual sadism oboInOwl:hasDbXref UMLS_CUI:C0036913 semapv:UnspecifiedMatching +DOID:10817 sexual sadism oboInOwl:hasDbXref UMLS:C0036913 semapv:UnspecifiedMatching DOID:1082 dirofilariasis oboInOwl:hasDbXref GARD:11908 semapv:UnspecifiedMatching DOID:1082 dirofilariasis oboInOwl:hasDbXref ICD10CM:B74.8 semapv:UnspecifiedMatching DOID:1082 dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching -DOID:1082 dirofilariasis oboInOwl:hasDbXref UMLS_CUI:C0012602 semapv:UnspecifiedMatching +DOID:1082 dirofilariasis oboInOwl:hasDbXref UMLS:C0012602 semapv:UnspecifiedMatching DOID:10823 malignant essential hypertension oboInOwl:hasDbXref ICD9CM:401.0 semapv:UnspecifiedMatching DOID:10823 malignant essential hypertension oboInOwl:hasDbXref NCI:C34802 semapv:UnspecifiedMatching -DOID:10823 malignant essential hypertension oboInOwl:hasDbXref UMLS_CUI:C0024588 semapv:UnspecifiedMatching +DOID:10823 malignant essential hypertension oboInOwl:hasDbXref UMLS:C0024588 semapv:UnspecifiedMatching DOID:10824 malignant hypertension oboInOwl:hasDbXref MESH:D006974 semapv:UnspecifiedMatching DOID:10824 malignant hypertension oboInOwl:hasDbXref NCI:C3118 semapv:UnspecifiedMatching -DOID:10824 malignant hypertension oboInOwl:hasDbXref UMLS_CUI:C0020540 semapv:UnspecifiedMatching +DOID:10824 malignant hypertension oboInOwl:hasDbXref UMLS:C0020540 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref ICD10CM:I10 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref ICD9CM:401 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref MESH:D000075222 semapv:UnspecifiedMatching @@ -18287,103 +18599,103 @@ DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610262 semapv:Unspecif DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610948 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:611014 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref ORDO:243761 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref UMLS_CUI:C0085580 semapv:UnspecifiedMatching +DOID:10825 essential hypertension oboInOwl:hasDbXref UMLS:C0085580 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref ICD10CM:F65.3 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref ICD9CM:302.82 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref MESH:D014843 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref NCI:C94360 semapv:UnspecifiedMatching -DOID:10834 voyeurism oboInOwl:hasDbXref UMLS_CUI:C0042979 semapv:UnspecifiedMatching +DOID:10834 voyeurism oboInOwl:hasDbXref UMLS:C0042979 semapv:UnspecifiedMatching DOID:10835 chylocele of tunica vaginalis oboInOwl:hasDbXref ICD9CM:608.84 semapv:UnspecifiedMatching -DOID:10835 chylocele of tunica vaginalis oboInOwl:hasDbXref UMLS_CUI:C0156315 semapv:UnspecifiedMatching +DOID:10835 chylocele of tunica vaginalis oboInOwl:hasDbXref UMLS:C0156315 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref GARD:10821 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref ICD10CM:A83.2 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref ICD9CM:062.2 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref MESH:D020242 semapv:UnspecifiedMatching -DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153065 semapv:UnspecifiedMatching +DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref UMLS:C0153065 semapv:UnspecifiedMatching DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref ICD10CM:A83.4 semapv:UnspecifiedMatching DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref ICD9CM:062.4 semapv:UnspecifiedMatching -DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153066 semapv:UnspecifiedMatching +DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref UMLS:C0153066 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref GARD:7888 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref ICD10CM:A83.1 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref ICD9CM:062.1 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref MESH:D020241 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref NCI:C85227 semapv:UnspecifiedMatching -DOID:10843 Western equine encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153064 semapv:UnspecifiedMatching +DOID:10843 Western equine encephalitis oboInOwl:hasDbXref UMLS:C0153064 semapv:UnspecifiedMatching DOID:10844 Japanese encephalitis oboInOwl:hasDbXref GARD:6797 semapv:UnspecifiedMatching DOID:10844 Japanese encephalitis oboInOwl:hasDbXref ICD10CM:A83.0 semapv:UnspecifiedMatching DOID:10844 Japanese encephalitis oboInOwl:hasDbXref ICD9CM:062.0 semapv:UnspecifiedMatching DOID:10844 Japanese encephalitis oboInOwl:hasDbXref MESH:D004672 semapv:UnspecifiedMatching DOID:10844 Japanese encephalitis oboInOwl:hasDbXref NCI:C34577 semapv:UnspecifiedMatching -DOID:10844 Japanese encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014057 semapv:UnspecifiedMatching +DOID:10844 Japanese encephalitis oboInOwl:hasDbXref UMLS:C0014057 semapv:UnspecifiedMatching DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref ICD10CM:A83.3 semapv:UnspecifiedMatching DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref ICD9CM:062.3 semapv:UnspecifiedMatching DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref MESH:D004674 semapv:UnspecifiedMatching -DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014060 semapv:UnspecifiedMatching +DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref UMLS:C0014060 semapv:UnspecifiedMatching DOID:10846 angiodysplasia of intestine oboInOwl:hasDbXref ICD9CM:569.84 semapv:UnspecifiedMatching -DOID:10846 angiodysplasia of intestine oboInOwl:hasDbXref UMLS_CUI:C0267367 semapv:UnspecifiedMatching +DOID:10846 angiodysplasia of intestine oboInOwl:hasDbXref UMLS:C0267367 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref ICD10CM:F65.51 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref ICD9CM:302.83 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref MESH:D008398 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref NCI:C94356 semapv:UnspecifiedMatching -DOID:10849 sexual masochism oboInOwl:hasDbXref UMLS_CUI:C0036908 semapv:UnspecifiedMatching +DOID:10849 sexual masochism oboInOwl:hasDbXref UMLS:C0036908 semapv:UnspecifiedMatching DOID:1085 Edwards syndrome oboInOwl:hasDbXref ICD9CM:758.2 semapv:UnspecifiedMatching DOID:1085 Edwards syndrome oboInOwl:hasDbXref MESH:D000073842 semapv:UnspecifiedMatching DOID:1085 Edwards syndrome oboInOwl:hasDbXref NCI:C101362 semapv:UnspecifiedMatching -DOID:1085 Edwards syndrome oboInOwl:hasDbXref UMLS_CUI:C0152096 semapv:UnspecifiedMatching +DOID:1085 Edwards syndrome oboInOwl:hasDbXref UMLS:C0152096 semapv:UnspecifiedMatching DOID:10852 middle ear cholesterol granuloma oboInOwl:hasDbXref NCI:C3655 semapv:UnspecifiedMatching -DOID:10852 middle ear cholesterol granuloma oboInOwl:hasDbXref UMLS_CUI:C0155492 semapv:UnspecifiedMatching +DOID:10852 middle ear cholesterol granuloma oboInOwl:hasDbXref UMLS:C0155492 semapv:UnspecifiedMatching DOID:10854 salivary gland disease oboInOwl:hasDbXref ICD9CM:527.8 semapv:UnspecifiedMatching -DOID:10854 salivary gland disease oboInOwl:hasDbXref UMLS_CUI:C0029773 semapv:UnspecifiedMatching +DOID:10854 salivary gland disease oboInOwl:hasDbXref UMLS:C0029773 semapv:UnspecifiedMatching DOID:10863 paralytic squint oboInOwl:hasDbXref ICD10CM:H49 semapv:UnspecifiedMatching DOID:10863 paralytic squint oboInOwl:hasDbXref ICD9CM:378.5 semapv:UnspecifiedMatching -DOID:10863 paralytic squint oboInOwl:hasDbXref UMLS_CUI:C0152221 semapv:UnspecifiedMatching +DOID:10863 paralytic squint oboInOwl:hasDbXref UMLS:C0152221 semapv:UnspecifiedMatching DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref ICD9CM:378.51 semapv:UnspecifiedMatching DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching -DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0271370 semapv:UnspecifiedMatching +DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref UMLS:C0271370 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref GARD:9482 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref MESH:D020434 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref NCI:C27593 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref OMIM:100200 semapv:UnspecifiedMatching -DOID:10865 abducens nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0271355 semapv:UnspecifiedMatching +DOID:10865 abducens nerve palsy oboInOwl:hasDbXref UMLS:C0271355 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy skos:exactMatch OMIM:100200 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref ICD9CM:378.52 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching -DOID:10866 total third-nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0271371 semapv:UnspecifiedMatching +DOID:10866 total third-nerve palsy oboInOwl:hasDbXref UMLS:C0271371 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref EFO:0001365 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD10CM:H35.30 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD9CM:362.50 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref NCI:C84391 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref OMIMPS:603075 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration oboInOwl:hasDbXref UMLS_CUI:C0242383 semapv:UnspecifiedMatching +DOID:10871 age related macular degeneration oboInOwl:hasDbXref UMLS:C0242383 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration skos:exactMatch OMIMPS:603075 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref ICD10CM:H35.32 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref ICD9CM:362.52 semapv:UnspecifiedMatching -DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref UMLS_CUI:C0271084 semapv:UnspecifiedMatching -DOID:1088 meningocele oboInOwl:hasDbXref UMLS_CUI:C0025299 semapv:UnspecifiedMatching +DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref UMLS:C0271084 semapv:UnspecifiedMatching +DOID:1088 meningocele oboInOwl:hasDbXref UMLS:C0025299 semapv:UnspecifiedMatching DOID:1088 meningocele skos:exactMatch MESH:D008588 semapv:UnspecifiedMatching DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref ICD10CM:I80.21 semapv:UnspecifiedMatching DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.81 semapv:UnspecifiedMatching -DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0155772 semapv:UnspecifiedMatching +DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref UMLS:C0155772 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref ICD10CM:B08.4 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref ICD9CM:074.3 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref MESH:D006232 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref NCI:C128439 semapv:UnspecifiedMatching -DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref UMLS_CUI:C0018572 semapv:UnspecifiedMatching +DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref UMLS:C0018572 semapv:UnspecifiedMatching DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref ICD10CM:B33.0 semapv:UnspecifiedMatching DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref ICD9CM:074.1 semapv:UnspecifiedMatching DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref MESH:D011000 semapv:UnspecifiedMatching -DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref UMLS_CUI:C0032238 semapv:UnspecifiedMatching +DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref UMLS:C0032238 semapv:UnspecifiedMatching DOID:10883 herpangina oboInOwl:hasDbXref ICD10CM:B08.5 semapv:UnspecifiedMatching DOID:10883 herpangina oboInOwl:hasDbXref ICD9CM:074.0 semapv:UnspecifiedMatching DOID:10883 herpangina oboInOwl:hasDbXref MESH:D006557 semapv:UnspecifiedMatching -DOID:10883 herpangina oboInOwl:hasDbXref UMLS_CUI:C0019338 semapv:UnspecifiedMatching +DOID:10883 herpangina oboInOwl:hasDbXref UMLS:C0019338 semapv:UnspecifiedMatching DOID:10887 lepromatous leprosy oboInOwl:hasDbXref ICD10CM:A30.5 semapv:UnspecifiedMatching DOID:10887 lepromatous leprosy oboInOwl:hasDbXref ICD9CM:030.0 semapv:UnspecifiedMatching DOID:10887 lepromatous leprosy oboInOwl:hasDbXref MESH:D015440 semapv:UnspecifiedMatching -DOID:10887 lepromatous leprosy oboInOwl:hasDbXref UMLS_CUI:C0023348 semapv:UnspecifiedMatching +DOID:10887 lepromatous leprosy oboInOwl:hasDbXref UMLS:C0023348 semapv:UnspecifiedMatching DOID:1089 tethered spinal cord syndrome oboInOwl:hasDbXref GARD:4018 semapv:UnspecifiedMatching -DOID:1089 tethered spinal cord syndrome oboInOwl:hasDbXref UMLS_CUI:C0560648 semapv:UnspecifiedMatching +DOID:1089 tethered spinal cord syndrome oboInOwl:hasDbXref UMLS:C0560648 semapv:UnspecifiedMatching DOID:1089 tethered spinal cord syndrome skos:exactMatch NCI:C99080 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref ICD10CM:Q54 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref MESH:D007021 semapv:UnspecifiedMatching @@ -18393,14 +18705,14 @@ DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300633 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300758 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300856 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref ORDO:440 semapv:UnspecifiedMatching -DOID:10892 hypospadias oboInOwl:hasDbXref UMLS_CUI:C0848558 semapv:UnspecifiedMatching +DOID:10892 hypospadias oboInOwl:hasDbXref UMLS:C0848558 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref GARD:3603 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref GARD:7038 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref ICD10CM:Q02 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref ICD9CM:742.1 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref MESH:D008831 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref NCI:C85874 semapv:UnspecifiedMatching -DOID:10907 microcephaly oboInOwl:hasDbXref UMLS_CUI:C0025958 semapv:UnspecifiedMatching +DOID:10907 microcephaly oboInOwl:hasDbXref UMLS:C0025958 semapv:UnspecifiedMatching DOID:10907 microcephaly skos:exactMatch MESH:D008831 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref GARD:6682 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ICD10CM:G91 semapv:UnspecifiedMatching @@ -18413,27 +18725,27 @@ DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatchi DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ORDO:2182 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ORDO:2185 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0020255 semapv:UnspecifiedMatching +DOID:10908 hydrocephalus oboInOwl:hasDbXref UMLS:C0020255 semapv:UnspecifiedMatching DOID:1091 tooth disease oboInOwl:hasDbXref MESH:D014076 semapv:UnspecifiedMatching -DOID:1091 tooth disease oboInOwl:hasDbXref UMLS_CUI:C0040435 semapv:UnspecifiedMatching +DOID:1091 tooth disease oboInOwl:hasDbXref UMLS:C0040435 semapv:UnspecifiedMatching DOID:10913 benign essential hypertension oboInOwl:hasDbXref ICD9CM:401.1 semapv:UnspecifiedMatching DOID:10913 benign essential hypertension oboInOwl:hasDbXref NCI:C3656 semapv:UnspecifiedMatching -DOID:10913 benign essential hypertension oboInOwl:hasDbXref UMLS_CUI:C0155583 semapv:UnspecifiedMatching +DOID:10913 benign essential hypertension oboInOwl:hasDbXref UMLS:C0155583 semapv:UnspecifiedMatching DOID:10914 amnestic disorder oboInOwl:hasDbXref ICD10CM:R41.3 semapv:UnspecifiedMatching DOID:10914 amnestic disorder oboInOwl:hasDbXref ICD9CM:294.0 semapv:UnspecifiedMatching DOID:10914 amnestic disorder oboInOwl:hasDbXref MESH:D000647 semapv:UnspecifiedMatching DOID:10914 amnestic disorder oboInOwl:hasDbXref NCI:C2867 semapv:UnspecifiedMatching -DOID:10914 amnestic disorder oboInOwl:hasDbXref UMLS_CUI:C0002622 semapv:UnspecifiedMatching -DOID:10914 amnestic disorder oboInOwl:hasDbXref UMLS_CUI:C0002625 semapv:UnspecifiedMatching +DOID:10914 amnestic disorder oboInOwl:hasDbXref UMLS:C0002622 semapv:UnspecifiedMatching +DOID:10914 amnestic disorder oboInOwl:hasDbXref UMLS:C0002625 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref MESH:D020915 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref NCI:C35764 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref OMIM:277730 semapv:UnspecifiedMatching -DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref UMLS_CUI:C0349464 semapv:UnspecifiedMatching +DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref UMLS:C0349464 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome skos:exactMatch OMIM:277730 semapv:UnspecifiedMatching DOID:10921 Siberian tick typhus oboInOwl:hasDbXref ICD10CM:A77.2 semapv:UnspecifiedMatching DOID:10921 Siberian tick typhus oboInOwl:hasDbXref ICD9CM:082.2 semapv:UnspecifiedMatching DOID:10921 Siberian tick typhus oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching -DOID:10921 Siberian tick typhus oboInOwl:hasDbXref UMLS_CUI:C0549160 semapv:UnspecifiedMatching +DOID:10921 Siberian tick typhus oboInOwl:hasDbXref UMLS:C0549160 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref GARD:8614 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref ICD10CM:D57.1 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref ICD10CM:D57.2 semapv:UnspecifiedMatching @@ -18445,65 +18757,65 @@ DOID:10923 sickle cell anemia oboInOwl:hasDbXref NCI:C34383 semapv:UnspecifiedMa DOID:10923 sickle cell anemia oboInOwl:hasDbXref NCI:C34676 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref OMIM:603903 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref ORDO:232 semapv:UnspecifiedMatching -DOID:10923 sickle cell anemia oboInOwl:hasDbXref UMLS_CUI:C0002895 semapv:UnspecifiedMatching -DOID:10923 sickle cell anemia oboInOwl:hasDbXref UMLS_CUI:C0019034 semapv:UnspecifiedMatching +DOID:10923 sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 semapv:UnspecifiedMatching +DOID:10923 sickle cell anemia oboInOwl:hasDbXref UMLS:C0019034 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia skos:exactMatch OMIM:603903 semapv:UnspecifiedMatching DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref ICD10CM:K28.0 semapv:UnspecifiedMatching DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref ICD9CM:534.0 semapv:UnspecifiedMatching -DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref UMLS_CUI:C0156042 semapv:UnspecifiedMatching +DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref UMLS:C0156042 semapv:UnspecifiedMatching DOID:10930 borderline personality disorder oboInOwl:hasDbXref ICD10CM:F60.3 semapv:UnspecifiedMatching DOID:10930 borderline personality disorder oboInOwl:hasDbXref ICD9CM:301.83 semapv:UnspecifiedMatching DOID:10930 borderline personality disorder oboInOwl:hasDbXref MESH:D001883 semapv:UnspecifiedMatching DOID:10930 borderline personality disorder oboInOwl:hasDbXref NCI:C92633 semapv:UnspecifiedMatching -DOID:10930 borderline personality disorder oboInOwl:hasDbXref UMLS_CUI:C0006012 semapv:UnspecifiedMatching +DOID:10930 borderline personality disorder oboInOwl:hasDbXref UMLS:C0006012 semapv:UnspecifiedMatching DOID:10931 dependent personality disorder oboInOwl:hasDbXref ICD10CM:F60.7 semapv:UnspecifiedMatching DOID:10931 dependent personality disorder oboInOwl:hasDbXref ICD9CM:301.6 semapv:UnspecifiedMatching DOID:10931 dependent personality disorder oboInOwl:hasDbXref MESH:D003859 semapv:UnspecifiedMatching DOID:10931 dependent personality disorder oboInOwl:hasDbXref NCI:C92637 semapv:UnspecifiedMatching -DOID:10931 dependent personality disorder oboInOwl:hasDbXref UMLS_CUI:C0011548 semapv:UnspecifiedMatching +DOID:10931 dependent personality disorder oboInOwl:hasDbXref UMLS:C0011548 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref ICD10CM:F60.5 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref ICD9CM:301.4 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref MESH:D003193 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref NCI:C92638 semapv:UnspecifiedMatching -DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref UMLS_CUI:C0009595 semapv:UnspecifiedMatching +DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref UMLS:C0009595 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref ICD10CM:F42 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref ICD9CM:300.3 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref MESH:D009771 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref NCI:C88411 semapv:UnspecifiedMatching -DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref UMLS_CUI:C0028768 semapv:UnspecifiedMatching +DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref UMLS:C0028768 semapv:UnspecifiedMatching DOID:10934 multiple personality disorder oboInOwl:hasDbXref ICD10CM:F44.81 semapv:UnspecifiedMatching DOID:10934 multiple personality disorder oboInOwl:hasDbXref ICD9CM:300.14 semapv:UnspecifiedMatching DOID:10934 multiple personality disorder oboInOwl:hasDbXref MESH:D009105 semapv:UnspecifiedMatching DOID:10934 multiple personality disorder oboInOwl:hasDbXref NCI:C94330 semapv:UnspecifiedMatching -DOID:10934 multiple personality disorder oboInOwl:hasDbXref UMLS_CUI:C0026773 semapv:UnspecifiedMatching +DOID:10934 multiple personality disorder oboInOwl:hasDbXref UMLS:C0026773 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD10CM:F44.9 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD10CM:F48.9 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD9CM:300.15 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD9CM:300.9 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref MESH:D004213 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref NCI:C92197 semapv:UnspecifiedMatching -DOID:10935 dissociative disorder oboInOwl:hasDbXref UMLS_CUI:C0012746 semapv:UnspecifiedMatching -DOID:10935 dissociative disorder oboInOwl:hasDbXref UMLS_CUI:C0041857 semapv:UnspecifiedMatching +DOID:10935 dissociative disorder oboInOwl:hasDbXref UMLS:C0012746 semapv:UnspecifiedMatching +DOID:10935 dissociative disorder oboInOwl:hasDbXref UMLS:C0041857 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref ICD10CM:F60.1 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref ICD9CM:301.2 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref MESH:D012557 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref NCI:C92631 semapv:UnspecifiedMatching -DOID:10936 schizoid personality disorder oboInOwl:hasDbXref UMLS_CUI:C0036339 semapv:UnspecifiedMatching +DOID:10936 schizoid personality disorder oboInOwl:hasDbXref UMLS:C0036339 semapv:UnspecifiedMatching DOID:10937 impulse control disorder oboInOwl:hasDbXref ICD10CM:F63.9 semapv:UnspecifiedMatching DOID:10937 impulse control disorder oboInOwl:hasDbXref ICD9CM:312.30 semapv:UnspecifiedMatching DOID:10937 impulse control disorder oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching DOID:10937 impulse control disorder oboInOwl:hasDbXref NCI:C34723 semapv:UnspecifiedMatching -DOID:10937 impulse control disorder oboInOwl:hasDbXref UMLS_CUI:C0021122 semapv:UnspecifiedMatching +DOID:10937 impulse control disorder oboInOwl:hasDbXref UMLS:C0021122 semapv:UnspecifiedMatching DOID:10938 paranoid personality disorder oboInOwl:hasDbXref ICD10CM:F60.0 semapv:UnspecifiedMatching DOID:10938 paranoid personality disorder oboInOwl:hasDbXref ICD9CM:301.0 semapv:UnspecifiedMatching DOID:10938 paranoid personality disorder oboInOwl:hasDbXref MESH:D010260 semapv:UnspecifiedMatching DOID:10938 paranoid personality disorder oboInOwl:hasDbXref NCI:C92630 semapv:UnspecifiedMatching -DOID:10938 paranoid personality disorder oboInOwl:hasDbXref UMLS_CUI:C0030477 semapv:UnspecifiedMatching +DOID:10938 paranoid personality disorder oboInOwl:hasDbXref UMLS:C0030477 semapv:UnspecifiedMatching DOID:10939 antisocial personality disorder oboInOwl:hasDbXref ICD10CM:F60.2 semapv:UnspecifiedMatching DOID:10939 antisocial personality disorder oboInOwl:hasDbXref ICD9CM:301.7 semapv:UnspecifiedMatching DOID:10939 antisocial personality disorder oboInOwl:hasDbXref MESH:D000987 semapv:UnspecifiedMatching DOID:10939 antisocial personality disorder oboInOwl:hasDbXref NCI:C88413 semapv:UnspecifiedMatching -DOID:10939 antisocial personality disorder oboInOwl:hasDbXref UMLS_CUI:C0003431 semapv:UnspecifiedMatching +DOID:10939 antisocial personality disorder oboInOwl:hasDbXref UMLS:C0003431 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref EFO:0003888 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref MESH:D001289 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:143465 semapv:UnspecifiedMatching @@ -18513,168 +18825,168 @@ DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:60890 DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608906 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612311 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612312 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref UMLS_CUI:C0041671 semapv:UnspecifiedMatching +DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref UMLS:C0041671 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref EFO:0003870 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref MESH:D002532 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref NCI:C34458 semapv:UnspecifiedMatching -DOID:10941 intracranial aneurysm oboInOwl:hasDbXref UMLS_CUI:C0007766 semapv:UnspecifiedMatching +DOID:10941 intracranial aneurysm oboInOwl:hasDbXref UMLS:C0007766 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref ICD10CM:K14 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref ICD9CM:529.9 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref MESH:D014060 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref NCI:C173793 semapv:UnspecifiedMatching -DOID:10944 tongue disease oboInOwl:hasDbXref UMLS_CUI:C0040409 semapv:UnspecifiedMatching +DOID:10944 tongue disease oboInOwl:hasDbXref UMLS:C0040409 semapv:UnspecifiedMatching DOID:10952 nephritis oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:10952 nephritis oboInOwl:hasDbXref MESH:D009393 semapv:UnspecifiedMatching DOID:10952 nephritis oboInOwl:hasDbXref NCI:C26833 semapv:UnspecifiedMatching -DOID:10952 nephritis oboInOwl:hasDbXref UMLS_CUI:C0027697 semapv:UnspecifiedMatching +DOID:10952 nephritis oboInOwl:hasDbXref UMLS:C0027697 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref GARD:8195 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref ICD10CM:B78 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref ICD9CM:127.2 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref MESH:D013322 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref NCI:C128398 semapv:UnspecifiedMatching -DOID:10955 strongyloidiasis oboInOwl:hasDbXref UMLS_CUI:C0038463 semapv:UnspecifiedMatching +DOID:10955 strongyloidiasis oboInOwl:hasDbXref UMLS:C0038463 semapv:UnspecifiedMatching DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref ICD10CM:H71.0 semapv:UnspecifiedMatching DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref ICD9CM:385.31 semapv:UnspecifiedMatching -DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref UMLS_CUI:C0155489 semapv:UnspecifiedMatching +DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref UMLS:C0155489 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD10CM:H71 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD9CM:385.3 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD9CM:385.32 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref MESH:D018424 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref NCI:C3654 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS_CUI:C0008374 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS_CUI:C0155490 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS:C0008374 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS:C0155490 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref ICD10CM:G80.1 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref ICD9CM:343.0 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref NCI:C34781 semapv:UnspecifiedMatching -DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS_CUI:C0023882 semapv:UnspecifiedMatching -DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS_CUI:C0154695 semapv:UnspecifiedMatching +DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS:C0023882 semapv:UnspecifiedMatching +DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS:C0154695 semapv:UnspecifiedMatching DOID:10966 lipoid nephrosis oboInOwl:hasDbXref ICD10CM:N04 semapv:UnspecifiedMatching DOID:10966 lipoid nephrosis oboInOwl:hasDbXref MESH:D009402 semapv:UnspecifiedMatching DOID:10966 lipoid nephrosis oboInOwl:hasDbXref NCI:C34844 semapv:UnspecifiedMatching -DOID:10966 lipoid nephrosis oboInOwl:hasDbXref UMLS_CUI:C0027721 semapv:UnspecifiedMatching +DOID:10966 lipoid nephrosis oboInOwl:hasDbXref UMLS:C0027721 semapv:UnspecifiedMatching DOID:10967 spastic hemiplegia oboInOwl:hasDbXref GARD:10448 semapv:UnspecifiedMatching DOID:10967 spastic hemiplegia oboInOwl:hasDbXref ICD9CM:343.1 semapv:UnspecifiedMatching -DOID:10967 spastic hemiplegia oboInOwl:hasDbXref UMLS_CUI:C0270805 semapv:UnspecifiedMatching +DOID:10967 spastic hemiplegia oboInOwl:hasDbXref UMLS:C0270805 semapv:UnspecifiedMatching DOID:10968 spastic monoplegia oboInOwl:hasDbXref GARD:10446 semapv:UnspecifiedMatching DOID:10968 spastic monoplegia oboInOwl:hasDbXref ICD9CM:343.3 semapv:UnspecifiedMatching DOID:10968 spastic monoplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching -DOID:10968 spastic monoplegia oboInOwl:hasDbXref UMLS_CUI:C0154698 semapv:UnspecifiedMatching +DOID:10968 spastic monoplegia oboInOwl:hasDbXref UMLS:C0154698 semapv:UnspecifiedMatching DOID:10969 hemiplegia oboInOwl:hasDbXref GARD:6583 semapv:UnspecifiedMatching DOID:10969 hemiplegia oboInOwl:hasDbXref ICD9CM:343.4 semapv:UnspecifiedMatching DOID:10969 hemiplegia oboInOwl:hasDbXref MESH:D006429 semapv:UnspecifiedMatching -DOID:10969 hemiplegia oboInOwl:hasDbXref UMLS_CUI:C0392550 semapv:UnspecifiedMatching +DOID:10969 hemiplegia oboInOwl:hasDbXref UMLS:C0392550 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref GARD:10447 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref ICD9CM:343.2 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref OMIMPS:612900 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref ORDO:210141 semapv:UnspecifiedMatching -DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref UMLS_CUI:C0154697 semapv:UnspecifiedMatching +DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref UMLS:C0154697 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy skos:exactMatch OMIMPS:612900 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70.03 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.0 semapv:UnspecifiedMatching -DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref UMLS_CUI:C0156327 semapv:UnspecifiedMatching +DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref UMLS:C0156327 semapv:UnspecifiedMatching DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70 semapv:UnspecifiedMatching DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.2 semapv:UnspecifiedMatching DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref NCI:C171201 semapv:UnspecifiedMatching -DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref UMLS_CUI:C0036133 semapv:UnspecifiedMatching +DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref UMLS:C0036133 semapv:UnspecifiedMatching DOID:10973 acute salpingitis oboInOwl:hasDbXref ICD10CM:N70.01 semapv:UnspecifiedMatching DOID:10973 acute salpingitis oboInOwl:hasDbXref NCI:C40120 semapv:UnspecifiedMatching -DOID:10973 acute salpingitis oboInOwl:hasDbXref UMLS_CUI:C0269038 semapv:UnspecifiedMatching +DOID:10973 acute salpingitis oboInOwl:hasDbXref UMLS:C0269038 semapv:UnspecifiedMatching DOID:10974 oophoritis oboInOwl:hasDbXref ICD10CM:N70.92 semapv:UnspecifiedMatching DOID:10974 oophoritis oboInOwl:hasDbXref MESH:D009869 semapv:UnspecifiedMatching -DOID:10974 oophoritis oboInOwl:hasDbXref UMLS_CUI:C0029051 semapv:UnspecifiedMatching +DOID:10974 oophoritis oboInOwl:hasDbXref UMLS:C0029051 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref EFO:0004254 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref ICD10CM:N03.2 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref MESH:D015433 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref NCI:C34645 semapv:UnspecifiedMatching -DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017665 semapv:UnspecifiedMatching +DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0017665 semapv:UnspecifiedMatching DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD10CM:P55 semapv:UnspecifiedMatching DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD9CM:773 semapv:UnspecifiedMatching DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref MESH:D004899 semapv:UnspecifiedMatching DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref NCI:C101304 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref UMLS_CUI:C0014761 semapv:UnspecifiedMatching +DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref UMLS:C0014761 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref GARD:5785 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref MESH:D009394 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref ORDO:63 semapv:UnspecifiedMatching -DOID:10983 Alport syndrome oboInOwl:hasDbXref UMLS_CUI:C0027706 semapv:UnspecifiedMatching +DOID:10983 Alport syndrome oboInOwl:hasDbXref UMLS:C0027706 semapv:UnspecifiedMatching DOID:10986 discitis oboInOwl:hasDbXref ICD10CM:M46.4 semapv:UnspecifiedMatching DOID:10986 discitis oboInOwl:hasDbXref MESH:D015299 semapv:UnspecifiedMatching -DOID:10986 discitis oboInOwl:hasDbXref UMLS_CUI:C0012624 semapv:UnspecifiedMatching +DOID:10986 discitis oboInOwl:hasDbXref UMLS:C0012624 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref ICD10CM:H11.41 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref ICD9CM:372.74 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref NCI:C35116 semapv:UnspecifiedMatching -DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042370 semapv:UnspecifiedMatching +DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref UMLS:C0042370 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref GARD:621 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD9CM:282.43 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref NCI:C34368 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref UMLS_CUI:C0002312 semapv:UnspecifiedMatching +DOID:1099 alpha thalassemia oboInOwl:hasDbXref UMLS:C0002312 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia skos:exactMatch OMIM:604131 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref MESH:D020144 semapv:UnspecifiedMatching -DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref UMLS_CUI:C0751739 semapv:UnspecifiedMatching +DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref UMLS:C0751739 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease skos:exactMatch MESH:D020144 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref GARD:8629 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref MESH:D004684 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref NCI:C84535 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref OMIM:606752 semapv:UnspecifiedMatching -DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref UMLS_CUI:C0014077 semapv:UnspecifiedMatching +DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref UMLS:C0014077 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis skos:exactMatch OMIM:606752 semapv:UnspecifiedMatching DOID:10997 immature cataract oboInOwl:hasDbXref ICD10CM:H25.09 semapv:UnspecifiedMatching -DOID:10997 immature cataract oboInOwl:hasDbXref UMLS_CUI:C0271163 semapv:UnspecifiedMatching +DOID:10997 immature cataract oboInOwl:hasDbXref UMLS:C0271163 semapv:UnspecifiedMatching DOID:110 lens disease oboInOwl:hasDbXref ICD10CM:H27.9 semapv:UnspecifiedMatching DOID:110 lens disease oboInOwl:hasDbXref MESH:D007905 semapv:UnspecifiedMatching DOID:110 lens disease oboInOwl:hasDbXref NCI:C26812 semapv:UnspecifiedMatching -DOID:110 lens disease oboInOwl:hasDbXref UMLS_CUI:C0023308 semapv:UnspecifiedMatching +DOID:110 lens disease oboInOwl:hasDbXref UMLS:C0023308 semapv:UnspecifiedMatching DOID:1100 ovarian disease oboInOwl:hasDbXref MESH:D010049 semapv:UnspecifiedMatching DOID:1100 ovarian disease oboInOwl:hasDbXref NCI:C26841 semapv:UnspecifiedMatching -DOID:1100 ovarian disease oboInOwl:hasDbXref UMLS_CUI:C0029928 semapv:UnspecifiedMatching -DOID:11014 anorectal stricture oboInOwl:hasDbXref UMLS_CUI:C0156183 semapv:UnspecifiedMatching +DOID:1100 ovarian disease oboInOwl:hasDbXref UMLS:C0029928 semapv:UnspecifiedMatching +DOID:11014 anorectal stricture oboInOwl:hasDbXref UMLS:C0156183 semapv:UnspecifiedMatching DOID:11028 pseudopterygium oboInOwl:hasDbXref ICD9CM:372.52 semapv:UnspecifiedMatching -DOID:11028 pseudopterygium oboInOwl:hasDbXref UMLS_CUI:C0155161 semapv:UnspecifiedMatching +DOID:11028 pseudopterygium oboInOwl:hasDbXref UMLS:C0155161 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref ICD10CM:H11.15 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref ICD9CM:372.51 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref MESH:D059407 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref NCI:C129468 semapv:UnspecifiedMatching -DOID:11029 pinguecula oboInOwl:hasDbXref UMLS_CUI:C0152255 semapv:UnspecifiedMatching +DOID:11029 pinguecula oboInOwl:hasDbXref UMLS:C0152255 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref ICD10CM:H18.20 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref ICD9CM:371.2 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref MESH:D015715 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref NCI:C50508 semapv:UnspecifiedMatching -DOID:11030 corneal edema oboInOwl:hasDbXref UMLS_CUI:C0010037 semapv:UnspecifiedMatching +DOID:11030 corneal edema oboInOwl:hasDbXref UMLS:C0010037 semapv:UnspecifiedMatching DOID:11031 bullous keratopathy oboInOwl:hasDbXref ICD10CM:H18.1 semapv:UnspecifiedMatching DOID:11031 bullous keratopathy oboInOwl:hasDbXref ICD9CM:371.23 semapv:UnspecifiedMatching DOID:11031 bullous keratopathy oboInOwl:hasDbXref NCI:C26970 semapv:UnspecifiedMatching -DOID:11031 bullous keratopathy oboInOwl:hasDbXref UMLS_CUI:C0155111 semapv:UnspecifiedMatching +DOID:11031 bullous keratopathy oboInOwl:hasDbXref UMLS:C0155111 semapv:UnspecifiedMatching DOID:11032 secondary corneal edema oboInOwl:hasDbXref ICD10CM:H18.23 semapv:UnspecifiedMatching DOID:11032 secondary corneal edema oboInOwl:hasDbXref ICD9CM:371.22 semapv:UnspecifiedMatching -DOID:11032 secondary corneal edema oboInOwl:hasDbXref UMLS_CUI:C0155110 semapv:UnspecifiedMatching +DOID:11032 secondary corneal edema oboInOwl:hasDbXref UMLS:C0155110 semapv:UnspecifiedMatching DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref ICD10CM:H18.22 semapv:UnspecifiedMatching DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref ICD9CM:371.21 semapv:UnspecifiedMatching -DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref UMLS_CUI:C0155109 semapv:UnspecifiedMatching +DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref UMLS:C0155109 semapv:UnspecifiedMatching DOID:11034 contact lens corneal edema oboInOwl:hasDbXref ICD9CM:371.24 semapv:UnspecifiedMatching -DOID:11034 contact lens corneal edema oboInOwl:hasDbXref UMLS_CUI:C0474442 semapv:UnspecifiedMatching +DOID:11034 contact lens corneal edema oboInOwl:hasDbXref UMLS:C0474442 semapv:UnspecifiedMatching DOID:11036 chronic rapidly progressive glomerulonephritis oboInOwl:hasDbXref ICD9CM:582.4 semapv:UnspecifiedMatching -DOID:11036 chronic rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0341694 semapv:UnspecifiedMatching +DOID:11036 chronic rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS:C0341694 semapv:UnspecifiedMatching DOID:11037 dissociative amnesia oboInOwl:hasDbXref ICD10CM:F44.0 semapv:UnspecifiedMatching DOID:11037 dissociative amnesia oboInOwl:hasDbXref ICD9CM:300.12 semapv:UnspecifiedMatching DOID:11037 dissociative amnesia oboInOwl:hasDbXref MESH:D000647 semapv:UnspecifiedMatching DOID:11037 dissociative amnesia oboInOwl:hasDbXref NCI:C94328 semapv:UnspecifiedMatching -DOID:11037 dissociative amnesia oboInOwl:hasDbXref UMLS_CUI:C0236795 semapv:UnspecifiedMatching +DOID:11037 dissociative amnesia oboInOwl:hasDbXref UMLS:C0236795 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref GARD:6260 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref ICD9CM:300.6 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref MESH:D003861 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref NCI:C94331 semapv:UnspecifiedMatching -DOID:11038 depersonalization disorder oboInOwl:hasDbXref UMLS_CUI:C0683416 semapv:UnspecifiedMatching +DOID:11038 depersonalization disorder oboInOwl:hasDbXref UMLS:C0683416 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref GARD:8234 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref ICD10CM:M05.0 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref ICD9CM:714.1 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref MESH:D005258 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref NCI:C84712 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref OMIM:134750 semapv:UnspecifiedMatching -DOID:11042 Felty's syndrome oboInOwl:hasDbXref UMLS_CUI:C0015773 semapv:UnspecifiedMatching +DOID:11042 Felty's syndrome oboInOwl:hasDbXref UMLS:C0015773 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome skos:exactMatch OMIM:134750 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref GARD:8661 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref ICD10CM:Q79.3 semapv:UnspecifiedMatching @@ -18682,13 +18994,13 @@ DOID:11044 gastroschisis oboInOwl:hasDbXref ICD9CM:756.73 semapv:UnspecifiedMatc DOID:11044 gastroschisis oboInOwl:hasDbXref MESH:D020139 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref NCI:C84725 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching -DOID:11044 gastroschisis oboInOwl:hasDbXref UMLS_CUI:C0265706 semapv:UnspecifiedMatching +DOID:11044 gastroschisis oboInOwl:hasDbXref UMLS:C0265706 semapv:UnspecifiedMatching DOID:11044 gastroschisis skos:exactMatch OMIM:230750 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref GARD:10494 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref ICD10CM:P24.01 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref NCI:C87093 semapv:UnspecifiedMatching -DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref UMLS_CUI:C0025048 semapv:UnspecifiedMatching +DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref UMLS:C0025048 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref GARD:12210 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref ICD10CM:C67 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref ICD9CM:188 semapv:UnspecifiedMatching @@ -18697,81 +19009,81 @@ DOID:11054 urinary bladder cancer oboInOwl:hasDbXref MESH:D001749 semapv:Unspeci DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C2901 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C9334 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref OMIM:109800 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C0005684 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C0005695 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS:C0005684 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS:C0005695 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer skos:exactMatch OMIM:109800 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD10CM:A28.0 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD9CM:027.2 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref MESH:D010326 semapv:UnspecifiedMatching -DOID:11055 pasteurellosis oboInOwl:hasDbXref UMLS_CUI:C0030636 semapv:UnspecifiedMatching +DOID:11055 pasteurellosis oboInOwl:hasDbXref UMLS:C0030636 semapv:UnspecifiedMatching DOID:1106 esophagus lymphoma oboInOwl:hasDbXref NCI:C5687 semapv:UnspecifiedMatching -DOID:1106 esophagus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333459 semapv:UnspecifiedMatching +DOID:1106 esophagus lymphoma oboInOwl:hasDbXref UMLS:C1333459 semapv:UnspecifiedMatching DOID:11060 placenta praevia oboInOwl:hasDbXref ICD10CM:O44 semapv:UnspecifiedMatching DOID:11060 placenta praevia oboInOwl:hasDbXref MESH:D010923 semapv:UnspecifiedMatching DOID:11060 placenta praevia oboInOwl:hasDbXref NCI:C26858 semapv:UnspecifiedMatching -DOID:11060 placenta praevia oboInOwl:hasDbXref UMLS_CUI:C0032046 semapv:UnspecifiedMatching +DOID:11060 placenta praevia oboInOwl:hasDbXref UMLS:C0032046 semapv:UnspecifiedMatching DOID:1107 esophageal carcinoma oboInOwl:hasDbXref EFO:0002916 semapv:UnspecifiedMatching DOID:1107 esophageal carcinoma oboInOwl:hasDbXref NCI:C3513 semapv:UnspecifiedMatching -DOID:1107 esophageal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0152018 semapv:UnspecifiedMatching +DOID:1107 esophageal carcinoma oboInOwl:hasDbXref UMLS:C0152018 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref GARD:5966 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref ICD10CM:A23 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref ICD9CM:023 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref MESH:D002006 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref NCI:C84602 semapv:UnspecifiedMatching -DOID:11077 brucellosis oboInOwl:hasDbXref UMLS_CUI:C0006309 semapv:UnspecifiedMatching +DOID:11077 brucellosis oboInOwl:hasDbXref UMLS:C0006309 semapv:UnspecifiedMatching DOID:11079 leech infestation oboInOwl:hasDbXref ICD10CM:B88.3 semapv:UnspecifiedMatching DOID:11079 leech infestation oboInOwl:hasDbXref ICD9CM:134.2 semapv:UnspecifiedMatching -DOID:11079 leech infestation oboInOwl:hasDbXref UMLS_CUI:C0019575 semapv:UnspecifiedMatching +DOID:11079 leech infestation oboInOwl:hasDbXref UMLS:C0019575 semapv:UnspecifiedMatching DOID:1108 esophagus melanoma oboInOwl:hasDbXref NCI:C5707 semapv:UnspecifiedMatching -DOID:1108 esophagus melanoma oboInOwl:hasDbXref UMLS_CUI:C1333460 semapv:UnspecifiedMatching +DOID:1108 esophagus melanoma oboInOwl:hasDbXref UMLS:C1333460 semapv:UnspecifiedMatching DOID:11080 myiasis oboInOwl:hasDbXref ICD10CM:B87 semapv:UnspecifiedMatching DOID:11080 myiasis oboInOwl:hasDbXref ICD9CM:134.0 semapv:UnspecifiedMatching DOID:11080 myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching DOID:11080 myiasis oboInOwl:hasDbXref NCI:C128400 semapv:UnspecifiedMatching -DOID:11080 myiasis oboInOwl:hasDbXref UMLS_CUI:C0027030 semapv:UnspecifiedMatching +DOID:11080 myiasis oboInOwl:hasDbXref UMLS:C0027030 semapv:UnspecifiedMatching DOID:11086 chorioretinal scar oboInOwl:hasDbXref ICD10CM:H31.0 semapv:UnspecifiedMatching DOID:11086 chorioretinal scar oboInOwl:hasDbXref ICD9CM:363.3 semapv:UnspecifiedMatching -DOID:11086 chorioretinal scar oboInOwl:hasDbXref UMLS_CUI:C0008512 semapv:UnspecifiedMatching +DOID:11086 chorioretinal scar oboInOwl:hasDbXref UMLS:C0008512 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref GARD:5857 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref ICD10CM:P84 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref ICD9CM:768.9 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref MESH:D001238 semapv:UnspecifiedMatching -DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0004045 semapv:UnspecifiedMatching +DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref UMLS:C0004045 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum skos:exactMatch MESH:D001238 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref GARD:7515 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref ICD10CM:A78 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref ICD9CM:083.0 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref MESH:D011778 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref NCI:C34970 semapv:UnspecifiedMatching -DOID:11100 Q fever oboInOwl:hasDbXref UMLS_CUI:C0034362 semapv:UnspecifiedMatching +DOID:11100 Q fever oboInOwl:hasDbXref UMLS:C0034362 semapv:UnspecifiedMatching DOID:11101 trench fever oboInOwl:hasDbXref ICD10CM:A79.0 semapv:UnspecifiedMatching DOID:11101 trench fever oboInOwl:hasDbXref ICD9CM:083.1 semapv:UnspecifiedMatching DOID:11101 trench fever oboInOwl:hasDbXref MESH:D014205 semapv:UnspecifiedMatching -DOID:11101 trench fever oboInOwl:hasDbXref UMLS_CUI:C0040830 semapv:UnspecifiedMatching +DOID:11101 trench fever oboInOwl:hasDbXref UMLS:C0040830 semapv:UnspecifiedMatching DOID:11101 trench fever skos:exactMatch MESH:D014205 semapv:UnspecifiedMatching DOID:11102 bartonellosis oboInOwl:hasDbXref ICD10CM:A44 semapv:UnspecifiedMatching DOID:11102 bartonellosis oboInOwl:hasDbXref ICD9CM:088.0 semapv:UnspecifiedMatching DOID:11102 bartonellosis oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching DOID:11102 bartonellosis oboInOwl:hasDbXref NCI:C84586 semapv:UnspecifiedMatching -DOID:11102 bartonellosis oboInOwl:hasDbXref UMLS_CUI:C0004771 semapv:UnspecifiedMatching +DOID:11102 bartonellosis oboInOwl:hasDbXref UMLS:C0004771 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref ICD10CM:A79.1 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref ICD9CM:083.2 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching -DOID:11103 rickettsialpox oboInOwl:hasDbXref UMLS_CUI:C0035597 semapv:UnspecifiedMatching +DOID:11103 rickettsialpox oboInOwl:hasDbXref UMLS:C0035597 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref GARD:4998 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref ICD10CM:A77.9 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref ICD9CM:082.0 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching -DOID:11104 spotted fever oboInOwl:hasDbXref UMLS_CUI:C0038041 semapv:UnspecifiedMatching +DOID:11104 spotted fever oboInOwl:hasDbXref UMLS:C0038041 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref MESH:C562733 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching -DOID:11105 fundus albipunctatus oboInOwl:hasDbXref UMLS_CUI:C0311338 semapv:UnspecifiedMatching +DOID:11105 fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus skos:exactMatch OMIM:136880 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref ICD10CM:N13.30 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref ICD9CM:591 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref MESH:D006869 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref NCI:C26796 semapv:UnspecifiedMatching -DOID:11111 hydronephrosis oboInOwl:hasDbXref UMLS_CUI:C0020295 semapv:UnspecifiedMatching +DOID:11111 hydronephrosis oboInOwl:hasDbXref UMLS:C0020295 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref EFO:0004895 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref GARD:7783 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD10CM:F95.2 semapv:UnspecifiedMatching @@ -18779,125 +19091,125 @@ DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD9CM:307.23 semap DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref MESH:D005879 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref NCI:C35078 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref OMIM:137580 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref UMLS_CUI:C0040517 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref UMLS:C0040517 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome skos:exactMatch OMIM:137580 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD10CM:F52.6 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD9CM:302.76 semapv:UnspecifiedMatching -DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref UMLS_CUI:C0154466 semapv:UnspecifiedMatching +DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref UMLS:C0154466 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref ICD10CM:K04.0 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref ICD9CM:522.0 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref MESH:D011671 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref NCI:C52595 semapv:UnspecifiedMatching -DOID:11121 pulpitis oboInOwl:hasDbXref UMLS_CUI:C0034103 semapv:UnspecifiedMatching +DOID:11121 pulpitis oboInOwl:hasDbXref UMLS:C0034103 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref GARD:8204 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref ICD10CM:D69.0 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref ICD9CM:287.0 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref MESH:D011695 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref NCI:C34963 semapv:UnspecifiedMatching -DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref UMLS_CUI:C0034152 semapv:UnspecifiedMatching +DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref UMLS:C0034152 semapv:UnspecifiedMatching DOID:11125 qualitative platelet defect oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:11125 qualitative platelet defect oboInOwl:hasDbXref ICD9CM:287.1 semapv:UnspecifiedMatching -DOID:11125 qualitative platelet defect oboInOwl:hasDbXref UMLS_CUI:C0235604 semapv:UnspecifiedMatching +DOID:11125 qualitative platelet defect oboInOwl:hasDbXref UMLS:C0235604 semapv:UnspecifiedMatching DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.5 semapv:UnspecifiedMatching DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.4 semapv:UnspecifiedMatching -DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0154301 semapv:UnspecifiedMatching +DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref UMLS:C0154301 semapv:UnspecifiedMatching DOID:11129 dislocation of ear ossicle oboInOwl:hasDbXref ICD9CM:385.23 semapv:UnspecifiedMatching -DOID:11129 dislocation of ear ossicle oboInOwl:hasDbXref UMLS_CUI:C0155487 semapv:UnspecifiedMatching +DOID:11129 dislocation of ear ossicle oboInOwl:hasDbXref UMLS:C0155487 semapv:UnspecifiedMatching DOID:11130 secondary hypertension oboInOwl:hasDbXref ICD10CM:I15 semapv:UnspecifiedMatching DOID:11130 secondary hypertension oboInOwl:hasDbXref ICD9CM:405 semapv:UnspecifiedMatching DOID:11130 secondary hypertension oboInOwl:hasDbXref NCI:C3657 semapv:UnspecifiedMatching -DOID:11130 secondary hypertension oboInOwl:hasDbXref UMLS_CUI:C0155616 semapv:UnspecifiedMatching +DOID:11130 secondary hypertension oboInOwl:hasDbXref UMLS:C0155616 semapv:UnspecifiedMatching DOID:11133 prostatic cyst oboInOwl:hasDbXref ICD10CM:N42.83 semapv:UnspecifiedMatching DOID:11133 prostatic cyst oboInOwl:hasDbXref ICD9CM:600.3 semapv:UnspecifiedMatching -DOID:11133 prostatic cyst oboInOwl:hasDbXref UMLS_CUI:C1443972 semapv:UnspecifiedMatching +DOID:11133 prostatic cyst oboInOwl:hasDbXref UMLS:C1443972 semapv:UnspecifiedMatching DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref ICD10CM:H04.16 semapv:UnspecifiedMatching DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref ICD9CM:375.16 semapv:UnspecifiedMatching -DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref UMLS_CUI:C0155231 semapv:UnspecifiedMatching +DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref UMLS:C0155231 semapv:UnspecifiedMatching DOID:1114 esophagus sarcoma oboInOwl:hasDbXref NCI:C5341 semapv:UnspecifiedMatching -DOID:1114 esophagus sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333466 semapv:UnspecifiedMatching +DOID:1114 esophagus sarcoma oboInOwl:hasDbXref UMLS:C1333466 semapv:UnspecifiedMatching DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref ICD10CM:H40.82 semapv:UnspecifiedMatching DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref ICD9CM:365.81 semapv:UnspecifiedMatching -DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154968 semapv:UnspecifiedMatching +DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref UMLS:C0154968 semapv:UnspecifiedMatching DOID:11149 aqueous misdirection oboInOwl:hasDbXref ICD10CM:H40.83 semapv:UnspecifiedMatching DOID:11149 aqueous misdirection oboInOwl:hasDbXref ICD9CM:365.83 semapv:UnspecifiedMatching -DOID:11149 aqueous misdirection oboInOwl:hasDbXref UMLS_CUI:C1135189 semapv:UnspecifiedMatching +DOID:11149 aqueous misdirection oboInOwl:hasDbXref UMLS:C1135189 semapv:UnspecifiedMatching DOID:1115 sarcoma oboInOwl:hasDbXref ICD10CM:C49 semapv:UnspecifiedMatching DOID:1115 sarcoma oboInOwl:hasDbXref ICD9CM:171.9 semapv:UnspecifiedMatching DOID:1115 sarcoma oboInOwl:hasDbXref ICDO:8800/3 semapv:UnspecifiedMatching -DOID:1115 sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153519 semapv:UnspecifiedMatching +DOID:1115 sarcoma oboInOwl:hasDbXref UMLS:C0153519 semapv:UnspecifiedMatching DOID:11151 cholecystolithiasis oboInOwl:hasDbXref MESH:D041761 semapv:UnspecifiedMatching DOID:11151 cholecystolithiasis oboInOwl:hasDbXref NCI:C34443 semapv:UnspecifiedMatching -DOID:11151 cholecystolithiasis oboInOwl:hasDbXref UMLS_CUI:C0947622 semapv:UnspecifiedMatching +DOID:11151 cholecystolithiasis oboInOwl:hasDbXref UMLS:C0947622 semapv:UnspecifiedMatching DOID:11153 miliaria rubra oboInOwl:hasDbXref ICD10CM:L74.0 semapv:UnspecifiedMatching DOID:11153 miliaria rubra oboInOwl:hasDbXref ICD9CM:705.1 semapv:UnspecifiedMatching DOID:11153 miliaria rubra oboInOwl:hasDbXref MESH:D008883 semapv:UnspecifiedMatching -DOID:11153 miliaria rubra oboInOwl:hasDbXref UMLS_CUI:C0162423 semapv:UnspecifiedMatching +DOID:11153 miliaria rubra oboInOwl:hasDbXref UMLS:C0162423 semapv:UnspecifiedMatching DOID:11155 hypohidrosis oboInOwl:hasDbXref ICD10CM:L74.4 semapv:UnspecifiedMatching DOID:11155 hypohidrosis oboInOwl:hasDbXref MESH:D007007 semapv:UnspecifiedMatching DOID:11155 hypohidrosis oboInOwl:hasDbXref NCI:C34718 semapv:UnspecifiedMatching -DOID:11155 hypohidrosis oboInOwl:hasDbXref UMLS_CUI:C0020620 semapv:UnspecifiedMatching +DOID:11155 hypohidrosis oboInOwl:hasDbXref UMLS:C0020620 semapv:UnspecifiedMatching DOID:11155 hypohidrosis skos:exactMatch MESH:D007007 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref ICD10CM:L74.4 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref ICD9CM:705.0 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref MESH:D007007 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref NCI:C34385 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref OMIM:206600 semapv:UnspecifiedMatching -DOID:11156 anhidrosis oboInOwl:hasDbXref UMLS_CUI:C0003028 semapv:UnspecifiedMatching +DOID:11156 anhidrosis oboInOwl:hasDbXref UMLS:C0003028 semapv:UnspecifiedMatching DOID:11156 anhidrosis skos:exactMatch OMIM:206600 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref KEGG:05133 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref MESH:D001885 semapv:UnspecifiedMatching -DOID:1116 pertussis oboInOwl:hasDbXref UMLS_CUI:C0006015 semapv:UnspecifiedMatching +DOID:1116 pertussis oboInOwl:hasDbXref UMLS:C0006015 semapv:UnspecifiedMatching DOID:11161 neonatal respiratory failure oboInOwl:hasDbXref ICD10CM:P28.5 semapv:UnspecifiedMatching DOID:11161 neonatal respiratory failure oboInOwl:hasDbXref ICD9CM:770.84 semapv:UnspecifiedMatching -DOID:11161 neonatal respiratory failure oboInOwl:hasDbXref UMLS_CUI:C0521648 semapv:UnspecifiedMatching +DOID:11161 neonatal respiratory failure oboInOwl:hasDbXref UMLS:C0521648 semapv:UnspecifiedMatching DOID:11162 respiratory failure oboInOwl:hasDbXref ICD10CM:J96.0 semapv:UnspecifiedMatching DOID:11162 respiratory failure oboInOwl:hasDbXref ICD9CM:518.81 semapv:UnspecifiedMatching DOID:11162 respiratory failure oboInOwl:hasDbXref NCI:C27043 semapv:UnspecifiedMatching -DOID:11162 respiratory failure oboInOwl:hasDbXref UMLS_CUI:C0264490 semapv:UnspecifiedMatching +DOID:11162 respiratory failure oboInOwl:hasDbXref UMLS:C0264490 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref ICD10CM:H18.42 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref ICD9CM:371.43 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref MESH:C562399 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref NCI:C118765 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref OMIM:217500 semapv:UnspecifiedMatching -DOID:11164 band keratopathy oboInOwl:hasDbXref UMLS_CUI:C0155120 semapv:UnspecifiedMatching +DOID:11164 band keratopathy oboInOwl:hasDbXref UMLS:C0155120 semapv:UnspecifiedMatching DOID:11164 band keratopathy skos:exactMatch OMIM:217500 semapv:UnspecifiedMatching DOID:11165 common wart oboInOwl:hasDbXref NCI:C5028 semapv:UnspecifiedMatching -DOID:11165 common wart oboInOwl:hasDbXref UMLS_CUI:C0043037 semapv:UnspecifiedMatching +DOID:11165 common wart oboInOwl:hasDbXref UMLS:C0043037 semapv:UnspecifiedMatching DOID:11166 Human papillomavirus infectious disease oboInOwl:hasDbXref MESH:D030361 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref ICD10CM:A63.0 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref ICD9CM:078.11 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref MESH:D003218 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref NCI:C2960 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref NCI:C4820 semapv:UnspecifiedMatching -DOID:11168 anogenital venereal wart oboInOwl:hasDbXref UMLS_CUI:C0009663 semapv:UnspecifiedMatching -DOID:11168 anogenital venereal wart oboInOwl:hasDbXref UMLS_CUI:C0554632 semapv:UnspecifiedMatching +DOID:11168 anogenital venereal wart oboInOwl:hasDbXref UMLS:C0009663 semapv:UnspecifiedMatching +DOID:11168 anogenital venereal wart oboInOwl:hasDbXref UMLS:C0554632 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref ICD10CM:H05.4 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref ICD9CM:376.5 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref MESH:D015841 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref NCI:C79552 semapv:UnspecifiedMatching -DOID:11175 enophthalmos oboInOwl:hasDbXref UMLS_CUI:C0014306 semapv:UnspecifiedMatching +DOID:11175 enophthalmos oboInOwl:hasDbXref UMLS:C0014306 semapv:UnspecifiedMatching DOID:11177 total internal ophthalmoplegia oboInOwl:hasDbXref ICD9CM:367.52 semapv:UnspecifiedMatching -DOID:11177 total internal ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152197 semapv:UnspecifiedMatching +DOID:11177 total internal ophthalmoplegia oboInOwl:hasDbXref UMLS:C0152197 semapv:UnspecifiedMatching DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref ICD10CM:H65 semapv:UnspecifiedMatching DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref ICD9CM:381.4 semapv:UnspecifiedMatching -DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0271446 semapv:UnspecifiedMatching +DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref UMLS:C0271446 semapv:UnspecifiedMatching DOID:11181 serous glue ear oboInOwl:hasDbXref ICD10CM:H65.2 semapv:UnspecifiedMatching DOID:11181 serous glue ear oboInOwl:hasDbXref ICD9CM:381.1 semapv:UnspecifiedMatching -DOID:11181 serous glue ear oboInOwl:hasDbXref UMLS_CUI:C0155421 semapv:UnspecifiedMatching +DOID:11181 serous glue ear oboInOwl:hasDbXref UMLS:C0155421 semapv:UnspecifiedMatching DOID:11184 acute conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.02 semapv:UnspecifiedMatching DOID:11184 acute conjunctivitis oboInOwl:hasDbXref ICD9CM:372.03 semapv:UnspecifiedMatching -DOID:11184 acute conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0029668 semapv:UnspecifiedMatching +DOID:11184 acute conjunctivitis oboInOwl:hasDbXref UMLS:C0029668 semapv:UnspecifiedMatching DOID:11186 allescheriosis oboInOwl:hasDbXref ICD10CM:B48.2 semapv:UnspecifiedMatching DOID:11186 allescheriosis oboInOwl:hasDbXref ICD9CM:117.6 semapv:UnspecifiedMatching -DOID:11186 allescheriosis oboInOwl:hasDbXref UMLS_CUI:C0153285 semapv:UnspecifiedMatching +DOID:11186 allescheriosis oboInOwl:hasDbXref UMLS:C0153285 semapv:UnspecifiedMatching DOID:11189 pulp degeneration oboInOwl:hasDbXref ICD10CM:K04.2 semapv:UnspecifiedMatching DOID:11189 pulp degeneration oboInOwl:hasDbXref ICD9CM:522.2 semapv:UnspecifiedMatching DOID:11189 pulp degeneration oboInOwl:hasDbXref NCI:C34962 semapv:UnspecifiedMatching -DOID:11189 pulp degeneration oboInOwl:hasDbXref UMLS_CUI:C0034100 semapv:UnspecifiedMatching +DOID:11189 pulp degeneration oboInOwl:hasDbXref UMLS:C0034100 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.22 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref ICD9CM:372.04 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref NCI:C35196 semapv:UnspecifiedMatching -DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155144 semapv:UnspecifiedMatching +DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref UMLS:C0155144 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref GARD:13181 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ICD10CM:Q70 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ICD9CM:755.1 semapv:UnspecifiedMatching @@ -18906,21 +19218,21 @@ DOID:11193 syndactyly oboInOwl:hasDbXref NCI:C87125 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:295012 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:90025 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:93403 semapv:UnspecifiedMatching -DOID:11193 syndactyly oboInOwl:hasDbXref UMLS_CUI:C0039075 semapv:UnspecifiedMatching +DOID:11193 syndactyly oboInOwl:hasDbXref UMLS:C0039075 semapv:UnspecifiedMatching DOID:11193 syndactyly skos:exactMatch MESH:D013576 semapv:UnspecifiedMatching DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref ICD10CM:J06.0 semapv:UnspecifiedMatching DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref ICD9CM:465.0 semapv:UnspecifiedMatching -DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref UMLS_CUI:C0155817 semapv:UnspecifiedMatching +DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref UMLS:C0155817 semapv:UnspecifiedMatching DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref ICD10CM:H10.23 semapv:UnspecifiedMatching DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref ICD9CM:372.01 semapv:UnspecifiedMatching -DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref UMLS_CUI:C0155142 semapv:UnspecifiedMatching +DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref UMLS:C0155142 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref GARD:10299 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD10CM:D82.1 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD9CM:279.11 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref NCI:C2989 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref UMLS_CUI:C0012236 semapv:UnspecifiedMatching +DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref UMLS:C0012236 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome skos:exactMatch OMIM:188400 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref GARD:6733 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20 semapv:UnspecifiedMatching @@ -18930,7 +19242,7 @@ DOID:11199 hypoparathyroidism oboInOwl:hasDbXref NCI:C78350 semapv:UnspecifiedMa DOID:11199 hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ORDO:2238 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020626 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref UMLS:C0020626 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism skos:exactMatch MESH:D007011 semapv:UnspecifiedMatching DOID:112 esophageal varix oboInOwl:hasDbXref GARD:6384 semapv:UnspecifiedMatching DOID:112 esophageal varix oboInOwl:hasDbXref ICD10CM:I85.01 semapv:UnspecifiedMatching @@ -18938,18 +19250,18 @@ DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.0 semapv:UnspecifiedMatc DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.2 semapv:UnspecifiedMatching DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.20 semapv:UnspecifiedMatching DOID:112 esophageal varix oboInOwl:hasDbXref NCI:C78282 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155789 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155791 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155792 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref UMLS:C0155789 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref UMLS:C0155791 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref UMLS:C0155792 semapv:UnspecifiedMatching DOID:11200 T cell deficiency oboInOwl:hasDbXref NCI:C27145 semapv:UnspecifiedMatching DOID:11200 T cell deficiency oboInOwl:hasDbXref NCI:C27872 semapv:UnspecifiedMatching -DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS_CUI:C1274233 semapv:UnspecifiedMatching -DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS_CUI:C1333147 semapv:UnspecifiedMatching +DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS:C1274233 semapv:UnspecifiedMatching +DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS:C1333147 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref ICD10CM:E21.5 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref ICD9CM:252.9 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref MESH:D010279 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref NCI:C26844 semapv:UnspecifiedMatching -DOID:11201 parathyroid gland disease oboInOwl:hasDbXref UMLS_CUI:C0030517 semapv:UnspecifiedMatching +DOID:11201 parathyroid gland disease oboInOwl:hasDbXref UMLS:C0030517 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref GARD:8612 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.0 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.01 semapv:UnspecifiedMatching @@ -18957,108 +19269,108 @@ DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref MESH:D049950 semapv:Un DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref NCI:C48280 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref OMIM:600166 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ORDO:99878 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0221002 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0271846 semapv:UnspecifiedMatching +DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C0221002 semapv:UnspecifiedMatching +DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C0271846 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism skos:exactMatch OMIM:600166 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref ICD10CM:H10.1 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref ICD9CM:372.05 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref NCI:C34353 semapv:UnspecifiedMatching -DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref UMLS_CUI:C0001309 semapv:UnspecifiedMatching +DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref UMLS:C0001309 semapv:UnspecifiedMatching DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref MESH:D003233 semapv:UnspecifiedMatching DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref NCI:C34506 semapv:UnspecifiedMatching -DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009766 semapv:UnspecifiedMatching +DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref UMLS:C0009766 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref ICD10CM:F11.1 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref ICD9CM:305.5 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching -DOID:11206 opioid abuse oboInOwl:hasDbXref UMLS_CUI:C0029095 semapv:UnspecifiedMatching +DOID:11206 opioid abuse oboInOwl:hasDbXref UMLS:C0029095 semapv:UnspecifiedMatching DOID:11211 buphthalmos oboInOwl:hasDbXref ICD9CM:743.21 semapv:UnspecifiedMatching DOID:11211 buphthalmos oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching -DOID:11211 buphthalmos oboInOwl:hasDbXref UMLS_CUI:C0311251 semapv:UnspecifiedMatching +DOID:11211 buphthalmos oboInOwl:hasDbXref UMLS:C0311251 semapv:UnspecifiedMatching DOID:11211 buphthalmos skos:exactMatch OMIM:231300 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref ICD10CM:Q15.0 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref MESH:D006871 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref NCI:C50648 semapv:UnspecifiedMatching -DOID:11212 hydrophthalmos oboInOwl:hasDbXref UMLS_CUI:C0020302 semapv:UnspecifiedMatching +DOID:11212 hydrophthalmos oboInOwl:hasDbXref UMLS:C0020302 semapv:UnspecifiedMatching DOID:11213 acute contagious conjunctivitis oboInOwl:hasDbXref NCI:C35704 semapv:UnspecifiedMatching -DOID:11213 acute contagious conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C1313983 semapv:UnspecifiedMatching +DOID:11213 acute contagious conjunctivitis oboInOwl:hasDbXref UMLS:C1313983 semapv:UnspecifiedMatching DOID:11217 chronic tympanitis oboInOwl:hasDbXref ICD10CM:H73.1 semapv:UnspecifiedMatching DOID:11217 chronic tympanitis oboInOwl:hasDbXref ICD9CM:384.1 semapv:UnspecifiedMatching -DOID:11217 chronic tympanitis oboInOwl:hasDbXref UMLS_CUI:C0395849 semapv:UnspecifiedMatching +DOID:11217 chronic tympanitis oboInOwl:hasDbXref UMLS:C0395849 semapv:UnspecifiedMatching DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref ICD10CM:H10.01 semapv:UnspecifiedMatching DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref ICD9CM:372.02 semapv:UnspecifiedMatching -DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref UMLS_CUI:C0155143 semapv:UnspecifiedMatching -DOID:11223 small intestine diverticulitis oboInOwl:hasDbXref UMLS_CUI:C0267502 semapv:UnspecifiedMatching +DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref UMLS:C0155143 semapv:UnspecifiedMatching +DOID:11223 small intestine diverticulitis oboInOwl:hasDbXref UMLS:C0267502 semapv:UnspecifiedMatching DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref ICD9CM:077.4 semapv:UnspecifiedMatching DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref MESH:D003232 semapv:UnspecifiedMatching DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref NCI:C34505 semapv:UnspecifiedMatching -DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009765 semapv:UnspecifiedMatching +DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref UMLS:C0009765 semapv:UnspecifiedMatching DOID:1123 spondyloarthropathy oboInOwl:hasDbXref GARD:4971 semapv:UnspecifiedMatching DOID:1123 spondyloarthropathy oboInOwl:hasDbXref MESH:D025242 semapv:UnspecifiedMatching -DOID:1123 spondyloarthropathy oboInOwl:hasDbXref UMLS_CUI:C0949691 semapv:UnspecifiedMatching +DOID:1123 spondyloarthropathy oboInOwl:hasDbXref UMLS:C0949691 semapv:UnspecifiedMatching DOID:11230 acute orbital inflammation oboInOwl:hasDbXref ICD10CM:H05.0 semapv:UnspecifiedMatching DOID:11230 acute orbital inflammation oboInOwl:hasDbXref ICD9CM:376.0 semapv:UnspecifiedMatching -DOID:11230 acute orbital inflammation oboInOwl:hasDbXref UMLS_CUI:C0155256 semapv:UnspecifiedMatching +DOID:11230 acute orbital inflammation oboInOwl:hasDbXref UMLS:C0155256 semapv:UnspecifiedMatching DOID:11231 orbital periostitis oboInOwl:hasDbXref ICD10CM:H05.03 semapv:UnspecifiedMatching DOID:11231 orbital periostitis oboInOwl:hasDbXref ICD9CM:376.02 semapv:UnspecifiedMatching -DOID:11231 orbital periostitis oboInOwl:hasDbXref UMLS_CUI:C0155257 semapv:UnspecifiedMatching +DOID:11231 orbital periostitis oboInOwl:hasDbXref UMLS:C0155257 semapv:UnspecifiedMatching DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref ICD10CM:H05.02 semapv:UnspecifiedMatching DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref ICD9CM:376.03 semapv:UnspecifiedMatching -DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref UMLS_CUI:C0155258 semapv:UnspecifiedMatching +DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref UMLS:C0155258 semapv:UnspecifiedMatching DOID:11233 orbital tenonitis oboInOwl:hasDbXref ICD9CM:376.04 semapv:UnspecifiedMatching -DOID:11233 orbital tenonitis oboInOwl:hasDbXref UMLS_CUI:C0155259 semapv:UnspecifiedMatching +DOID:11233 orbital tenonitis oboInOwl:hasDbXref UMLS:C0155259 semapv:UnspecifiedMatching DOID:11234 orbital cellulitis oboInOwl:hasDbXref ICD10CM:H05.01 semapv:UnspecifiedMatching DOID:11234 orbital cellulitis oboInOwl:hasDbXref ICD9CM:376.01 semapv:UnspecifiedMatching DOID:11234 orbital cellulitis oboInOwl:hasDbXref MESH:D054517 semapv:UnspecifiedMatching DOID:11234 orbital cellulitis oboInOwl:hasDbXref NCI:C99000 semapv:UnspecifiedMatching -DOID:11234 orbital cellulitis oboInOwl:hasDbXref UMLS_CUI:C0149507 semapv:UnspecifiedMatching +DOID:11234 orbital cellulitis oboInOwl:hasDbXref UMLS:C0149507 semapv:UnspecifiedMatching DOID:11235 adhesive otitis media oboInOwl:hasDbXref ICD10CM:H74.1 semapv:UnspecifiedMatching DOID:11235 adhesive otitis media oboInOwl:hasDbXref ICD9CM:385.1 semapv:UnspecifiedMatching -DOID:11235 adhesive otitis media oboInOwl:hasDbXref UMLS_CUI:C0155478 semapv:UnspecifiedMatching +DOID:11235 adhesive otitis media oboInOwl:hasDbXref UMLS:C0155478 semapv:UnspecifiedMatching DOID:11239 appendix cancer oboInOwl:hasDbXref ICD10CM:C18.1 semapv:UnspecifiedMatching DOID:11239 appendix cancer oboInOwl:hasDbXref ICD9CM:153.5 semapv:UnspecifiedMatching DOID:11239 appendix cancer oboInOwl:hasDbXref MESH:D001063 semapv:UnspecifiedMatching DOID:11239 appendix cancer oboInOwl:hasDbXref NCI:C9333 semapv:UnspecifiedMatching -DOID:11239 appendix cancer oboInOwl:hasDbXref UMLS_CUI:C0496779 semapv:UnspecifiedMatching +DOID:11239 appendix cancer oboInOwl:hasDbXref UMLS:C0496779 semapv:UnspecifiedMatching DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref MESH:D001063 semapv:UnspecifiedMatching DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref NCI:C4434 semapv:UnspecifiedMatching -DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0003614 semapv:UnspecifiedMatching +DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref UMLS:C0003614 semapv:UnspecifiedMatching DOID:11241 appendix lymphoma oboInOwl:hasDbXref NCI:C5513 semapv:UnspecifiedMatching -DOID:11241 appendix lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332328 semapv:UnspecifiedMatching +DOID:11241 appendix lymphoma oboInOwl:hasDbXref UMLS:C1332328 semapv:UnspecifiedMatching DOID:11242 plethora of newborn oboInOwl:hasDbXref ICD10CM:P61.1 semapv:UnspecifiedMatching DOID:11242 plethora of newborn oboInOwl:hasDbXref ICD9CM:776.4 semapv:UnspecifiedMatching DOID:11242 plethora of newborn oboInOwl:hasDbXref NCI:C27069 semapv:UnspecifiedMatching -DOID:11242 plethora of newborn oboInOwl:hasDbXref UMLS_CUI:C0272153 semapv:UnspecifiedMatching +DOID:11242 plethora of newborn oboInOwl:hasDbXref UMLS:C0272153 semapv:UnspecifiedMatching DOID:11243 anemia of prematurity oboInOwl:hasDbXref ICD10CM:P61.2 semapv:UnspecifiedMatching DOID:11243 anemia of prematurity oboInOwl:hasDbXref ICD9CM:776.6 semapv:UnspecifiedMatching DOID:11243 anemia of prematurity oboInOwl:hasDbXref NCI:C97167 semapv:UnspecifiedMatching -DOID:11243 anemia of prematurity oboInOwl:hasDbXref UMLS_CUI:C0158996 semapv:UnspecifiedMatching +DOID:11243 anemia of prematurity oboInOwl:hasDbXref UMLS:C0158996 semapv:UnspecifiedMatching DOID:11244 neonatal anemia oboInOwl:hasDbXref MESH:D000751 semapv:UnspecifiedMatching -DOID:11244 neonatal anemia oboInOwl:hasDbXref UMLS_CUI:C0002891 semapv:UnspecifiedMatching +DOID:11244 neonatal anemia oboInOwl:hasDbXref UMLS:C0002891 semapv:UnspecifiedMatching DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref ICD10CM:P61.5 semapv:UnspecifiedMatching DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref ICD9CM:776.7 semapv:UnspecifiedMatching -DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref UMLS_CUI:C0158997 semapv:UnspecifiedMatching +DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref UMLS:C0158997 semapv:UnspecifiedMatching DOID:11246 DIC in newborn oboInOwl:hasDbXref ICD10CM:P60 semapv:UnspecifiedMatching DOID:11246 DIC in newborn oboInOwl:hasDbXref ICD9CM:776.2 semapv:UnspecifiedMatching DOID:11246 DIC in newborn oboInOwl:hasDbXref NCI:C111856 semapv:UnspecifiedMatching -DOID:11246 DIC in newborn oboInOwl:hasDbXref UMLS_CUI:C0158992 semapv:UnspecifiedMatching +DOID:11246 DIC in newborn oboInOwl:hasDbXref UMLS:C0158992 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref ICD10CM:D65 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref ICD9CM:286.6 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref MESH:D004211 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref NCI:C2992 semapv:UnspecifiedMatching -DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref UMLS_CUI:C0012739 semapv:UnspecifiedMatching +DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref UMLS:C0012739 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref ICD10CM:E56.1 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref ICD9CM:269.0 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref MESH:D014813 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref NCI:C99108 semapv:UnspecifiedMatching -DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref UMLS_CUI:C0042880 semapv:UnspecifiedMatching +DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref UMLS:C0042880 semapv:UnspecifiedMatching DOID:11252 microcytic anemia oboInOwl:hasDbXref MESH:C562385 semapv:UnspecifiedMatching DOID:11252 microcytic anemia oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching -DOID:11252 microcytic anemia oboInOwl:hasDbXref UMLS_CUI:C0085576 semapv:UnspecifiedMatching +DOID:11252 microcytic anemia oboInOwl:hasDbXref UMLS:C0085576 semapv:UnspecifiedMatching DOID:11252 microcytic anemia skos:exactMatch OMIM:206200 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD10CM:A75.1 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD9CM:081.1 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching -DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref UMLS_CUI:C0006181 semapv:UnspecifiedMatching +DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref UMLS:C0006181 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref GARD:7833 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD10CM:A75.0 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD10CM:A75.2 semapv:UnspecifiedMatching @@ -19070,30 +19382,30 @@ DOID:11256 typhus oboInOwl:hasDbXref MESH:D014437 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref NCI:C84688 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref NCI:C84689 semapv:UnspecifiedMatching -DOID:11256 typhus oboInOwl:hasDbXref UMLS_CUI:C0041471 semapv:UnspecifiedMatching -DOID:11256 typhus oboInOwl:hasDbXref UMLS_CUI:C0041472 semapv:UnspecifiedMatching -DOID:11256 typhus oboInOwl:hasDbXref UMLS_CUI:C0041473 semapv:UnspecifiedMatching +DOID:11256 typhus oboInOwl:hasDbXref UMLS:C0041471 semapv:UnspecifiedMatching +DOID:11256 typhus oboInOwl:hasDbXref UMLS:C0041472 semapv:UnspecifiedMatching +DOID:11256 typhus oboInOwl:hasDbXref UMLS:C0041473 semapv:UnspecifiedMatching DOID:11257 social phobia oboInOwl:hasDbXref ICD10CM:F40.1 semapv:UnspecifiedMatching DOID:11257 social phobia oboInOwl:hasDbXref ICD9CM:300.23 semapv:UnspecifiedMatching DOID:11257 social phobia oboInOwl:hasDbXref MESH:D000072861 semapv:UnspecifiedMatching DOID:11257 social phobia oboInOwl:hasDbXref NCI:C34927 semapv:UnspecifiedMatching -DOID:11257 social phobia oboInOwl:hasDbXref UMLS_CUI:C0031572 semapv:UnspecifiedMatching +DOID:11257 social phobia oboInOwl:hasDbXref UMLS:C0031572 semapv:UnspecifiedMatching DOID:11258 cat-scratch disease oboInOwl:hasDbXref ICD10CM:A28.1 semapv:UnspecifiedMatching DOID:11258 cat-scratch disease oboInOwl:hasDbXref ICD9CM:078.3 semapv:UnspecifiedMatching DOID:11258 cat-scratch disease oboInOwl:hasDbXref MESH:D002372 semapv:UnspecifiedMatching DOID:11258 cat-scratch disease oboInOwl:hasDbXref NCI:C84620 semapv:UnspecifiedMatching -DOID:11258 cat-scratch disease oboInOwl:hasDbXref UMLS_CUI:C0007361 semapv:UnspecifiedMatching +DOID:11258 cat-scratch disease oboInOwl:hasDbXref UMLS:C0007361 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref GARD:7516 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref ICD10CM:A82 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref ICD9CM:071 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref MESH:D011818 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref NCI:C28182 semapv:UnspecifiedMatching -DOID:11260 rabies oboInOwl:hasDbXref UMLS_CUI:C0034494 semapv:UnspecifiedMatching +DOID:11260 rabies oboInOwl:hasDbXref UMLS:C0034494 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref ICD10CM:A70 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref ICD9CM:073 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref MESH:D009956 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref NCI:C34873 semapv:UnspecifiedMatching -DOID:11262 ornithosis oboInOwl:hasDbXref UMLS_CUI:C0029291 semapv:UnspecifiedMatching +DOID:11262 ornithosis oboInOwl:hasDbXref UMLS:C0029291 semapv:UnspecifiedMatching DOID:11263 chlamydia oboInOwl:hasDbXref MESH:D002689 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref GARD:10374 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71 semapv:UnspecifiedMatching @@ -19103,294 +19415,294 @@ DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076.0 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076.1 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref MESH:D014141 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0040592 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0153107 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0153108 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref UMLS:C0040592 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref UMLS:C0153107 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref UMLS:C0153108 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref ICD10CM:A98.5 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref ICD9CM:078.6 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref MESH:D006480 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref NCI:C84753 semapv:UnspecifiedMatching -DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref UMLS_CUI:C0019101 semapv:UnspecifiedMatching +DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref UMLS:C0019101 semapv:UnspecifiedMatching DOID:11267 keratomalacia oboInOwl:hasDbXref GARD:6825 semapv:UnspecifiedMatching DOID:11267 keratomalacia oboInOwl:hasDbXref ICD10CM:H18.44 semapv:UnspecifiedMatching DOID:11267 keratomalacia oboInOwl:hasDbXref ICD9CM:371.45 semapv:UnspecifiedMatching DOID:11267 keratomalacia oboInOwl:hasDbXref MESH:C536156 semapv:UnspecifiedMatching -DOID:11267 keratomalacia oboInOwl:hasDbXref UMLS_CUI:C0152455 semapv:UnspecifiedMatching +DOID:11267 keratomalacia oboInOwl:hasDbXref UMLS:C0152455 semapv:UnspecifiedMatching DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref ICD10CM:K04.5 semapv:UnspecifiedMatching DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref ICD9CM:522.6 semapv:UnspecifiedMatching -DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0392492 semapv:UnspecifiedMatching +DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref UMLS:C0392492 semapv:UnspecifiedMatching DOID:11277 Plummer's disease oboInOwl:hasDbXref ICD10CM:E05.2 semapv:UnspecifiedMatching DOID:11277 Plummer's disease oboInOwl:hasDbXref ICD9CM:242.3 semapv:UnspecifiedMatching DOID:11277 Plummer's disease oboInOwl:hasDbXref NCI:C35171 semapv:UnspecifiedMatching -DOID:11277 Plummer's disease oboInOwl:hasDbXref UMLS_CUI:C0342127 semapv:UnspecifiedMatching +DOID:11277 Plummer's disease oboInOwl:hasDbXref UMLS:C0342127 semapv:UnspecifiedMatching DOID:11282 solar retinopathy oboInOwl:hasDbXref ICD10CM:H31.02 semapv:UnspecifiedMatching DOID:11282 solar retinopathy oboInOwl:hasDbXref ICD9CM:363.31 semapv:UnspecifiedMatching -DOID:11282 solar retinopathy oboInOwl:hasDbXref UMLS_CUI:C0152131 semapv:UnspecifiedMatching +DOID:11282 solar retinopathy oboInOwl:hasDbXref UMLS:C0152131 semapv:UnspecifiedMatching DOID:11283 peripheral scars of retina oboInOwl:hasDbXref ICD9CM:363.34 semapv:UnspecifiedMatching -DOID:11283 peripheral scars of retina oboInOwl:hasDbXref UMLS_CUI:C0154888 semapv:UnspecifiedMatching +DOID:11283 peripheral scars of retina oboInOwl:hasDbXref UMLS:C0154888 semapv:UnspecifiedMatching DOID:11285 tick paralysis oboInOwl:hasDbXref GARD:7771 semapv:UnspecifiedMatching DOID:11285 tick paralysis oboInOwl:hasDbXref MESH:D013985 semapv:UnspecifiedMatching -DOID:11285 tick paralysis oboInOwl:hasDbXref UMLS_CUI:C0040197 semapv:UnspecifiedMatching +DOID:11285 tick paralysis oboInOwl:hasDbXref UMLS:C0040197 semapv:UnspecifiedMatching DOID:11285 tick paralysis skos:exactMatch MESH:D013985 semapv:UnspecifiedMatching DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref ICD10CM:J67.7 semapv:UnspecifiedMatching DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref ICD9CM:495.7 semapv:UnspecifiedMatching -DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0155891 semapv:UnspecifiedMatching +DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref UMLS:C0155891 semapv:UnspecifiedMatching DOID:1129 pituitary apoplexy oboInOwl:hasDbXref MESH:D010899 semapv:UnspecifiedMatching DOID:1129 pituitary apoplexy oboInOwl:hasDbXref NCI:C26853 semapv:UnspecifiedMatching -DOID:1129 pituitary apoplexy oboInOwl:hasDbXref UMLS_CUI:C0032001 semapv:UnspecifiedMatching +DOID:1129 pituitary apoplexy oboInOwl:hasDbXref UMLS:C0032001 semapv:UnspecifiedMatching DOID:11294 arteriovenous malformation oboInOwl:hasDbXref ICD10CM:I77.0 semapv:UnspecifiedMatching DOID:11294 arteriovenous malformation oboInOwl:hasDbXref ICDO:9123/0 semapv:UnspecifiedMatching DOID:11294 arteriovenous malformation oboInOwl:hasDbXref NCI:C2882 semapv:UnspecifiedMatching -DOID:11294 arteriovenous malformation oboInOwl:hasDbXref UMLS_CUI:C0334533 semapv:UnspecifiedMatching +DOID:11294 arteriovenous malformation oboInOwl:hasDbXref UMLS:C0334533 semapv:UnspecifiedMatching DOID:11295 retinal microaneurysm oboInOwl:hasDbXref ICD9CM:362.14 semapv:UnspecifiedMatching DOID:11295 retinal microaneurysm oboInOwl:hasDbXref MESH:D000071071 semapv:UnspecifiedMatching -DOID:11295 retinal microaneurysm oboInOwl:hasDbXref UMLS_CUI:C0154834 semapv:UnspecifiedMatching +DOID:11295 retinal microaneurysm oboInOwl:hasDbXref UMLS:C0154834 semapv:UnspecifiedMatching DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref ICD10CM:I65.0 semapv:UnspecifiedMatching DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref ICD9CM:433.2 semapv:UnspecifiedMatching -DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0155724 semapv:UnspecifiedMatching +DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref UMLS:C0155724 semapv:UnspecifiedMatching DOID:1130 pituitary infarct oboInOwl:hasDbXref NCI:C27117 semapv:UnspecifiedMatching -DOID:1130 pituitary infarct oboInOwl:hasDbXref UMLS_CUI:C0342405 semapv:UnspecifiedMatching +DOID:1130 pituitary infarct oboInOwl:hasDbXref UMLS:C0342405 semapv:UnspecifiedMatching DOID:11302 cercarial dermatitis oboInOwl:hasDbXref GARD:9747 semapv:UnspecifiedMatching DOID:11302 cercarial dermatitis oboInOwl:hasDbXref ICD10CM:B65.3 semapv:UnspecifiedMatching DOID:11302 cercarial dermatitis oboInOwl:hasDbXref ICD9CM:120.3 semapv:UnspecifiedMatching DOID:11302 cercarial dermatitis oboInOwl:hasDbXref NCI:C34457 semapv:UnspecifiedMatching -DOID:11302 cercarial dermatitis oboInOwl:hasDbXref UMLS_CUI:C0546996 semapv:UnspecifiedMatching +DOID:11302 cercarial dermatitis oboInOwl:hasDbXref UMLS:C0546996 semapv:UnspecifiedMatching DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref ICD9CM:426.12 semapv:UnspecifiedMatching DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref NCI:C62018 semapv:UnspecifiedMatching -DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref UMLS_CUI:C0155700 semapv:UnspecifiedMatching +DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref UMLS:C0155700 semapv:UnspecifiedMatching DOID:11315 African histoplasmosis oboInOwl:hasDbXref ICD9CM:115.10 semapv:UnspecifiedMatching -DOID:11315 African histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0153270 semapv:UnspecifiedMatching +DOID:11315 African histoplasmosis oboInOwl:hasDbXref UMLS:C0153270 semapv:UnspecifiedMatching DOID:11316 histoplasmosis retinitis oboInOwl:hasDbXref ICD9CM:115.92 semapv:UnspecifiedMatching -DOID:11316 histoplasmosis retinitis oboInOwl:hasDbXref UMLS_CUI:C0153278 semapv:UnspecifiedMatching +DOID:11316 histoplasmosis retinitis oboInOwl:hasDbXref UMLS:C0153278 semapv:UnspecifiedMatching DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref GARD:8257 semapv:UnspecifiedMatching DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref ICD10CM:A98.2 semapv:UnspecifiedMatching DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref ICD9CM:065.2 semapv:UnspecifiedMatching DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref MESH:D007733 semapv:UnspecifiedMatching -DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref UMLS_CUI:C0022810 semapv:UnspecifiedMatching +DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref UMLS:C0022810 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref ICD10CM:F20.81 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref ICD9CM:295.4 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref MESH:D011618 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref NCI:C94376 semapv:UnspecifiedMatching -DOID:11328 schizophreniform disorder oboInOwl:hasDbXref UMLS_CUI:C0036358 semapv:UnspecifiedMatching +DOID:11328 schizophreniform disorder oboInOwl:hasDbXref UMLS:C0036358 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref GARD:9512 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref ICD10CM:L94.6 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref ICD9CM:136.0 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref MESH:D000387 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref NCI:C84544 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref OMIM:103400 semapv:UnspecifiedMatching -DOID:11329 ainhum oboInOwl:hasDbXref UMLS_CUI:C0001860 semapv:UnspecifiedMatching +DOID:11329 ainhum oboInOwl:hasDbXref UMLS:C0001860 semapv:UnspecifiedMatching DOID:11329 ainhum skos:exactMatch MESH:D000387 semapv:UnspecifiedMatching DOID:11329 ainhum skos:exactMatch OMIM:103400 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref GARD:6370 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref ICD10CM:A46 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref ICD9CM:035 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref MESH:D004886 semapv:UnspecifiedMatching -DOID:11330 erysipelas oboInOwl:hasDbXref UMLS_CUI:C0014733 semapv:UnspecifiedMatching +DOID:11330 erysipelas oboInOwl:hasDbXref UMLS:C0014733 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref GARD:7607 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref ICD10CM:D86 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref ICD9CM:135 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref MESH:D012507 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref NCI:C34995 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref ORDO:797 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036202 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref UMLS:C0036202 semapv:UnspecifiedMatching DOID:11335 sarcoidosis skos:exactMatch MESH:D012507 semapv:UnspecifiedMatching DOID:11336 rhinoscleroma oboInOwl:hasDbXref ICD9CM:040.1 semapv:UnspecifiedMatching DOID:11336 rhinoscleroma oboInOwl:hasDbXref MESH:D012226 semapv:UnspecifiedMatching -DOID:11336 rhinoscleroma oboInOwl:hasDbXref UMLS_CUI:C0035468 semapv:UnspecifiedMatching +DOID:11336 rhinoscleroma oboInOwl:hasDbXref UMLS:C0035468 semapv:UnspecifiedMatching DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref GARD:6882 semapv:UnspecifiedMatching DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref ICD9CM:040.3 semapv:UnspecifiedMatching DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref MESH:D005674 semapv:UnspecifiedMatching -DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref UMLS_CUI:C0027537 semapv:UnspecifiedMatching +DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref UMLS:C0027537 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref GARD:5144 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref ICD10CM:A35 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref ICD9CM:037 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref MESH:D013742 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref NCI:C85185 semapv:UnspecifiedMatching -DOID:11338 tetanus oboInOwl:hasDbXref UMLS_CUI:C0039614 semapv:UnspecifiedMatching +DOID:11338 tetanus oboInOwl:hasDbXref UMLS:C0039614 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref GARD:4386 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref ICD10CM:B59 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref ICD9CM:136.3 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref MESH:D011020 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref NCI:C3334 semapv:UnspecifiedMatching -DOID:11339 pneumocystosis oboInOwl:hasDbXref UMLS_CUI:C1535939 semapv:UnspecifiedMatching +DOID:11339 pneumocystosis oboInOwl:hasDbXref UMLS:C1535939 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref ICD10CM:K06.0 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref ICD10CM:K06.01 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref ICD9CM:523.2 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref ICD9CM:523.24 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref MESH:D005889 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref NCI:C82068 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref UMLS_CUI:C0017572 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref UMLS_CUI:C0266916 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref UMLS:C0017572 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref UMLS:C0266916 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref ICD10CM:H18.41 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref MESH:D001112 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref OMIM:107800 semapv:UnspecifiedMatching -DOID:11342 arcus senilis oboInOwl:hasDbXref UMLS_CUI:C0003742 semapv:UnspecifiedMatching +DOID:11342 arcus senilis oboInOwl:hasDbXref UMLS:C0003742 semapv:UnspecifiedMatching DOID:11342 arcus senilis skos:exactMatch OMIM:107800 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref ICD10CM:H15 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref MESH:D015422 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref NCI:C79717 semapv:UnspecifiedMatching -DOID:11343 scleral disease oboInOwl:hasDbXref UMLS_CUI:C0036412 semapv:UnspecifiedMatching +DOID:11343 scleral disease oboInOwl:hasDbXref UMLS:C0036412 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD10CM:N32.3 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD9CM:596.3 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref MESH:C562406 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref NCI:C160155 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref OMIM:109820 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum oboInOwl:hasDbXref UMLS_CUI:C0156273 semapv:UnspecifiedMatching +DOID:11353 bladder diverticulum oboInOwl:hasDbXref UMLS:C0156273 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum skos:exactMatch OMIM:109820 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref ICD10CM:N21.0 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref ICD9CM:594.0 semapv:UnspecifiedMatching -DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref UMLS_CUI:C0156265 semapv:UnspecifiedMatching +DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref UMLS:C0156265 semapv:UnspecifiedMatching DOID:11355 bladder calculus oboInOwl:hasDbXref ICD10CM:N21.0 semapv:UnspecifiedMatching DOID:11355 bladder calculus oboInOwl:hasDbXref MESH:D001744 semapv:UnspecifiedMatching -DOID:11355 bladder calculus oboInOwl:hasDbXref UMLS_CUI:C0005683 semapv:UnspecifiedMatching +DOID:11355 bladder calculus oboInOwl:hasDbXref UMLS:C0005683 semapv:UnspecifiedMatching DOID:11360 Phlebotomus fever oboInOwl:hasDbXref ICD10CM:A93.1 semapv:UnspecifiedMatching DOID:11360 Phlebotomus fever oboInOwl:hasDbXref ICD9CM:066.0 semapv:UnspecifiedMatching DOID:11360 Phlebotomus fever oboInOwl:hasDbXref MESH:D010217 semapv:UnspecifiedMatching -DOID:11360 Phlebotomus fever oboInOwl:hasDbXref UMLS_CUI:C0030372 semapv:UnspecifiedMatching +DOID:11360 Phlebotomus fever oboInOwl:hasDbXref UMLS:C0030372 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref ICD10CM:H27.11 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref ICD9CM:379.32 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref MESH:D007906 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref NCI:C34772 semapv:UnspecifiedMatching -DOID:11364 lens subluxation oboInOwl:hasDbXref UMLS_CUI:C0023316 semapv:UnspecifiedMatching +DOID:11364 lens subluxation oboInOwl:hasDbXref UMLS:C0023316 semapv:UnspecifiedMatching DOID:11364 lens subluxation skos:exactMatch MESH:D007906 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref ICD10CM:Q12.3 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref ICD9CM:743.35 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref NCI:C35172 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching -DOID:11367 congenital aphakia oboInOwl:hasDbXref UMLS_CUI:C0152422 semapv:UnspecifiedMatching +DOID:11367 congenital aphakia oboInOwl:hasDbXref UMLS:C0152422 semapv:UnspecifiedMatching DOID:11367 congenital aphakia skos:exactMatch OMIM:610256 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref ICD10CM:K59.1 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref ICD9CM:564.5 semapv:UnspecifiedMatching -DOID:11371 functional diarrhea oboInOwl:hasDbXref UMLS_CUI:C0156173 semapv:UnspecifiedMatching +DOID:11371 functional diarrhea oboInOwl:hasDbXref UMLS:C0156173 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref ICD10CM:K59.39 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref MESH:D008531 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref NCI:C34810 semapv:UnspecifiedMatching -DOID:11372 megacolon oboInOwl:hasDbXref UMLS_CUI:C0025160 semapv:UnspecifiedMatching +DOID:11372 megacolon oboInOwl:hasDbXref UMLS:C0025160 semapv:UnspecifiedMatching DOID:11374 anal spasm oboInOwl:hasDbXref ICD10CM:K59.4 semapv:UnspecifiedMatching DOID:11374 anal spasm oboInOwl:hasDbXref ICD9CM:564.6 semapv:UnspecifiedMatching -DOID:11374 anal spasm oboInOwl:hasDbXref UMLS_CUI:C0152167 semapv:UnspecifiedMatching +DOID:11374 anal spasm oboInOwl:hasDbXref UMLS:C0152167 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref GARD:9286 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref ICD10CM:B83.1 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref ICD9CM:128.1 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref MESH:D058429 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref NCI:C128395 semapv:UnspecifiedMatching -DOID:11379 gnathomiasis oboInOwl:hasDbXref UMLS_CUI:C0018013 semapv:UnspecifiedMatching +DOID:11379 gnathomiasis oboInOwl:hasDbXref UMLS:C0018013 semapv:UnspecifiedMatching DOID:1138 spinal meningioma oboInOwl:hasDbXref GARD:10264 semapv:UnspecifiedMatching DOID:1138 spinal meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:1138 spinal meningioma oboInOwl:hasDbXref NCI:C6935 semapv:UnspecifiedMatching -DOID:1138 spinal meningioma oboInOwl:hasDbXref UMLS_CUI:C0347515 semapv:UnspecifiedMatching +DOID:1138 spinal meningioma oboInOwl:hasDbXref UMLS:C0347515 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref ICD10CM:H16.4 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref ICD9CM:370.6 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref MESH:D016510 semapv:UnspecifiedMatching -DOID:11382 corneal neovascularization oboInOwl:hasDbXref UMLS_CUI:C0085109 semapv:UnspecifiedMatching +DOID:11382 corneal neovascularization oboInOwl:hasDbXref UMLS:C0085109 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref ICD10CM:Q53.9 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref ICD9CM:752.51 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref MESH:D003456 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref NCI:C12326 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref OMIM:219050 semapv:UnspecifiedMatching -DOID:11383 cryptorchidism oboInOwl:hasDbXref UMLS_CUI:C0010417 semapv:UnspecifiedMatching +DOID:11383 cryptorchidism oboInOwl:hasDbXref UMLS:C0010417 semapv:UnspecifiedMatching DOID:11383 cryptorchidism skos:exactMatch OMIM:219050 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD10CM:F80.1 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD9CM:315.31 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref NCI:C92562 semapv:UnspecifiedMatching -DOID:11385 expressive language disorder oboInOwl:hasDbXref UMLS_CUI:C0236826 semapv:UnspecifiedMatching +DOID:11385 expressive language disorder oboInOwl:hasDbXref UMLS:C0236826 semapv:UnspecifiedMatching DOID:11387 epidural abscess oboInOwl:hasDbXref MESH:D020802 semapv:UnspecifiedMatching -DOID:11387 epidural abscess oboInOwl:hasDbXref UMLS_CUI:C0270629 semapv:UnspecifiedMatching +DOID:11387 epidural abscess oboInOwl:hasDbXref UMLS:C0270629 semapv:UnspecifiedMatching DOID:11389 subdural empyema oboInOwl:hasDbXref MESH:D013354 semapv:UnspecifiedMatching -DOID:11389 subdural empyema oboInOwl:hasDbXref UMLS_CUI:C0038539 semapv:UnspecifiedMatching +DOID:11389 subdural empyema oboInOwl:hasDbXref UMLS:C0038539 semapv:UnspecifiedMatching DOID:11390 cerebral arteritis oboInOwl:hasDbXref ICD9CM:437.4 semapv:UnspecifiedMatching -DOID:11390 cerebral arteritis oboInOwl:hasDbXref UMLS_CUI:C0007773 semapv:UnspecifiedMatching +DOID:11390 cerebral arteritis oboInOwl:hasDbXref UMLS:C0007773 semapv:UnspecifiedMatching DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref GARD:5698 semapv:UnspecifiedMatching DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref ICD10CM:J80 semapv:UnspecifiedMatching DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref MESH:D012128 semapv:UnspecifiedMatching DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref NCI:C3353 semapv:UnspecifiedMatching -DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref UMLS_CUI:C0035222 semapv:UnspecifiedMatching +DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0035222 semapv:UnspecifiedMatching DOID:11396 pulmonary edema oboInOwl:hasDbXref ICD10CM:J81 semapv:UnspecifiedMatching DOID:11396 pulmonary edema oboInOwl:hasDbXref MESH:D011654 semapv:UnspecifiedMatching DOID:11396 pulmonary edema oboInOwl:hasDbXref NCI:C26868 semapv:UnspecifiedMatching -DOID:11396 pulmonary edema oboInOwl:hasDbXref UMLS_CUI:C0034063 semapv:UnspecifiedMatching +DOID:11396 pulmonary edema oboInOwl:hasDbXref UMLS:C0034063 semapv:UnspecifiedMatching DOID:114 heart disease oboInOwl:hasDbXref ICD10CM:I51.9 semapv:UnspecifiedMatching DOID:114 heart disease oboInOwl:hasDbXref ICD9CM:429.9 semapv:UnspecifiedMatching DOID:114 heart disease oboInOwl:hasDbXref MESH:D006331 semapv:UnspecifiedMatching DOID:114 heart disease oboInOwl:hasDbXref NCI:C3079 semapv:UnspecifiedMatching -DOID:114 heart disease oboInOwl:hasDbXref UMLS_CUI:C0018799 semapv:UnspecifiedMatching +DOID:114 heart disease oboInOwl:hasDbXref UMLS:C0018799 semapv:UnspecifiedMatching DOID:1140 spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5134 semapv:UnspecifiedMatching -DOID:1140 spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334264 semapv:UnspecifiedMatching +DOID:1140 spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS:C1334264 semapv:UnspecifiedMatching DOID:11400 pyelonephritis oboInOwl:hasDbXref ICD10CM:N16 semapv:UnspecifiedMatching DOID:11400 pyelonephritis oboInOwl:hasDbXref ICD9CM:590.80 semapv:UnspecifiedMatching DOID:11400 pyelonephritis oboInOwl:hasDbXref MESH:D011704 semapv:UnspecifiedMatching DOID:11400 pyelonephritis oboInOwl:hasDbXref NCI:C34965 semapv:UnspecifiedMatching -DOID:11400 pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0034186 semapv:UnspecifiedMatching +DOID:11400 pyelonephritis oboInOwl:hasDbXref UMLS:C0034186 semapv:UnspecifiedMatching DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref MESH:D011705 semapv:UnspecifiedMatching DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref NCI:C123038 semapv:UnspecifiedMatching -DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0034188 semapv:UnspecifiedMatching +DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref UMLS:C0034188 semapv:UnspecifiedMatching DOID:11405 diphtheria oboInOwl:hasDbXref GARD:1875 semapv:UnspecifiedMatching DOID:11405 diphtheria oboInOwl:hasDbXref MESH:D003354 semapv:UnspecifiedMatching -DOID:11405 diphtheria oboInOwl:hasDbXref UMLS_CUI:C0010153 semapv:UnspecifiedMatching +DOID:11405 diphtheria oboInOwl:hasDbXref UMLS:C0010153 semapv:UnspecifiedMatching DOID:11406 choroiditis oboInOwl:hasDbXref GARD:6062 semapv:UnspecifiedMatching DOID:11406 choroiditis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:11406 choroiditis oboInOwl:hasDbXref MESH:D002833 semapv:UnspecifiedMatching DOID:11406 choroiditis oboInOwl:hasDbXref NCI:C35111 semapv:UnspecifiedMatching -DOID:11406 choroiditis oboInOwl:hasDbXref UMLS_CUI:C0008526 semapv:UnspecifiedMatching +DOID:11406 choroiditis oboInOwl:hasDbXref UMLS:C0008526 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref ICD10CM:H50.15 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref ICD9CM:378.15 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref MESH:D005099 semapv:UnspecifiedMatching -DOID:1142 alternating exotropia oboInOwl:hasDbXref UMLS_CUI:C0152207 semapv:UnspecifiedMatching +DOID:1142 alternating exotropia oboInOwl:hasDbXref UMLS:C0152207 semapv:UnspecifiedMatching DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref ICD10CM:N80.2 semapv:UnspecifiedMatching DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref ICD9CM:617.2 semapv:UnspecifiedMatching DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref NCI:C26763 semapv:UnspecifiedMatching -DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref UMLS_CUI:C0014177 semapv:UnspecifiedMatching +DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref UMLS:C0014177 semapv:UnspecifiedMatching DOID:11427 endosalpingiosis oboInOwl:hasDbXref NCI:C179646 semapv:UnspecifiedMatching -DOID:11427 endosalpingiosis oboInOwl:hasDbXref UMLS_CUI:C0269106 semapv:UnspecifiedMatching +DOID:11427 endosalpingiosis oboInOwl:hasDbXref UMLS:C0269106 semapv:UnspecifiedMatching DOID:11428 endometriosis of intestine oboInOwl:hasDbXref ICD10CM:N80.5 semapv:UnspecifiedMatching DOID:11428 endometriosis of intestine oboInOwl:hasDbXref ICD9CM:617.5 semapv:UnspecifiedMatching -DOID:11428 endometriosis of intestine oboInOwl:hasDbXref UMLS_CUI:C0156347 semapv:UnspecifiedMatching +DOID:11428 endometriosis of intestine oboInOwl:hasDbXref UMLS:C0156347 semapv:UnspecifiedMatching DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref ICD10CM:N80.3 semapv:UnspecifiedMatching DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref ICD9CM:617.3 semapv:UnspecifiedMatching -DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref UMLS_CUI:C0156345 semapv:UnspecifiedMatching +DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref UMLS:C0156345 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref ICD10CM:H50.1 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref ICD9CM:378.1 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref MESH:D005099 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref NCI:C34601 semapv:UnspecifiedMatching -DOID:1143 exotropia oboInOwl:hasDbXref UMLS_CUI:C0015310 semapv:UnspecifiedMatching +DOID:1143 exotropia oboInOwl:hasDbXref UMLS:C0015310 semapv:UnspecifiedMatching DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref ICD10CM:N80.6 semapv:UnspecifiedMatching DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref ICD9CM:617.6 semapv:UnspecifiedMatching -DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref UMLS_CUI:C0156348 semapv:UnspecifiedMatching +DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref UMLS:C0156348 semapv:UnspecifiedMatching DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref ICD10CM:N80.4 semapv:UnspecifiedMatching DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref ICD9CM:617.4 semapv:UnspecifiedMatching -DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref UMLS_CUI:C0156346 semapv:UnspecifiedMatching +DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref UMLS:C0156346 semapv:UnspecifiedMatching DOID:11432 endometriosis of ovary oboInOwl:hasDbXref ICD10CM:N80.1 semapv:UnspecifiedMatching DOID:11432 endometriosis of ovary oboInOwl:hasDbXref ICD9CM:617.1 semapv:UnspecifiedMatching DOID:11432 endometriosis of ovary oboInOwl:hasDbXref NCI:C27628 semapv:UnspecifiedMatching -DOID:11432 endometriosis of ovary oboInOwl:hasDbXref UMLS_CUI:C0156344 semapv:UnspecifiedMatching +DOID:11432 endometriosis of ovary oboInOwl:hasDbXref UMLS:C0156344 semapv:UnspecifiedMatching DOID:11446 sciatic neuropathy oboInOwl:hasDbXref MESH:D020426 semapv:UnspecifiedMatching -DOID:11446 sciatic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0149940 semapv:UnspecifiedMatching +DOID:11446 sciatic neuropathy oboInOwl:hasDbXref UMLS:C0149940 semapv:UnspecifiedMatching DOID:11452 perinatal jaundice due to hepatocellular damage oboInOwl:hasDbXref ICD9CM:774.4 semapv:UnspecifiedMatching -DOID:11452 perinatal jaundice due to hepatocellular damage oboInOwl:hasDbXref UMLS_CUI:C0158976 semapv:UnspecifiedMatching +DOID:11452 perinatal jaundice due to hepatocellular damage oboInOwl:hasDbXref UMLS:C0158976 semapv:UnspecifiedMatching DOID:11457 brain compression oboInOwl:hasDbXref ICD10CM:G93.5 semapv:UnspecifiedMatching DOID:11457 brain compression oboInOwl:hasDbXref ICD9CM:348.4 semapv:UnspecifiedMatching -DOID:11457 brain compression oboInOwl:hasDbXref UMLS_CUI:C0009592 semapv:UnspecifiedMatching +DOID:11457 brain compression oboInOwl:hasDbXref UMLS:C0009592 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref GARD:4561 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD10CM:G93.2 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD9CM:348.2 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref NCI:C85035 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref UMLS_CUI:C0033845 semapv:UnspecifiedMatching +DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref UMLS:C0033845 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri skos:exactMatch OMIM:243200 semapv:UnspecifiedMatching DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref ICD9CM:337.1 semapv:UnspecifiedMatching -DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0154691 semapv:UnspecifiedMatching +DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref UMLS:C0154691 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref ICD10CM:C32.2 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref ICD9CM:161.2 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref NCI:C3546 semapv:UnspecifiedMatching -DOID:11472 subglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153485 semapv:UnspecifiedMatching +DOID:11472 subglottis cancer oboInOwl:hasDbXref UMLS:C0153485 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref EFO:0003882 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref ICD10CM:M81.0 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref ICD9CM:733.0 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref MESH:D010024 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref NCI:C3298 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref OMIM:166710 semapv:UnspecifiedMatching -DOID:11476 osteoporosis oboInOwl:hasDbXref UMLS_CUI:C0029456 semapv:UnspecifiedMatching +DOID:11476 osteoporosis oboInOwl:hasDbXref UMLS:C0029456 semapv:UnspecifiedMatching DOID:11476 osteoporosis skos:exactMatch OMIM:166710 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref GARD:4410 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref ICD10CM:Q69 semapv:UnspecifiedMatching @@ -19402,107 +19714,107 @@ DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref UMLS_CUI:C0152427 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref UMLS_CUI:C0220697 semapv:UnspecifiedMatching +DOID:1148 polydactyly oboInOwl:hasDbXref UMLS:C0152427 semapv:UnspecifiedMatching +DOID:1148 polydactyly oboInOwl:hasDbXref UMLS:C0220697 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref ICD9CM:423.2 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref MESH:D010494 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref NCI:C78246 semapv:UnspecifiedMatching -DOID:11481 constrictive pericarditis oboInOwl:hasDbXref UMLS_CUI:C0031048 semapv:UnspecifiedMatching +DOID:11481 constrictive pericarditis oboInOwl:hasDbXref UMLS:C0031048 semapv:UnspecifiedMatching DOID:11482 hemopericardium oboInOwl:hasDbXref ICD9CM:423.0 semapv:UnspecifiedMatching DOID:11482 hemopericardium oboInOwl:hasDbXref MESH:D010490 semapv:UnspecifiedMatching DOID:11482 hemopericardium oboInOwl:hasDbXref NCI:C111644 semapv:UnspecifiedMatching -DOID:11482 hemopericardium oboInOwl:hasDbXref UMLS_CUI:C0019064 semapv:UnspecifiedMatching +DOID:11482 hemopericardium oboInOwl:hasDbXref UMLS:C0019064 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref GARD:6670 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref ICD10CM:G90.2 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref MESH:D006732 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref NCI:C28155 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching -DOID:11486 Horner's syndrome oboInOwl:hasDbXref UMLS_CUI:C0019937 semapv:UnspecifiedMatching +DOID:11486 Horner's syndrome oboInOwl:hasDbXref UMLS:C0019937 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome skos:exactMatch OMIM:143000 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD10CM:G90.0 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD9CM:337.0 semapv:UnspecifiedMatching -DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0154690 semapv:UnspecifiedMatching +DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref UMLS:C0154690 semapv:UnspecifiedMatching DOID:11491 acquired night blindness oboInOwl:hasDbXref ICD10CM:H53.62 semapv:UnspecifiedMatching DOID:11491 acquired night blindness oboInOwl:hasDbXref ICD9CM:368.62 semapv:UnspecifiedMatching -DOID:11491 acquired night blindness oboInOwl:hasDbXref UMLS_CUI:C0152202 semapv:UnspecifiedMatching +DOID:11491 acquired night blindness oboInOwl:hasDbXref UMLS:C0152202 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref ICD10CM:I31.4 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref ICD9CM:423.3 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref MESH:D002305 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref NCI:C50481 semapv:UnspecifiedMatching -DOID:115 cardiac tamponade oboInOwl:hasDbXref UMLS_CUI:C0007177 semapv:UnspecifiedMatching +DOID:115 cardiac tamponade oboInOwl:hasDbXref UMLS:C0007177 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD10CM:Q23.3 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD9CM:396.3 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD9CM:746.6 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref MESH:D008944 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref NCI:C50888 semapv:UnspecifiedMatching -DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0026266 semapv:UnspecifiedMatching -DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0158619 semapv:UnspecifiedMatching -DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0264774 semapv:UnspecifiedMatching +DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS:C0026266 semapv:UnspecifiedMatching +DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS:C0158619 semapv:UnspecifiedMatching +DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS:C0264774 semapv:UnspecifiedMatching DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref MESH:D003929 semapv:UnspecifiedMatching DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref NCI:C27068 semapv:UnspecifiedMatching -DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0271686 semapv:UnspecifiedMatching +DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref UMLS:C0271686 semapv:UnspecifiedMatching DOID:11504 autonomic neuropathy oboInOwl:hasDbXref NCI:C27033 semapv:UnspecifiedMatching -DOID:11504 autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0259749 semapv:UnspecifiedMatching +DOID:11504 autonomic neuropathy oboInOwl:hasDbXref UMLS:C0259749 semapv:UnspecifiedMatching DOID:11506 suppurative otitis media oboInOwl:hasDbXref ICD10CM:H66.4 semapv:UnspecifiedMatching DOID:11506 suppurative otitis media oboInOwl:hasDbXref ICD9CM:382.4 semapv:UnspecifiedMatching DOID:11506 suppurative otitis media oboInOwl:hasDbXref MESH:D010035 semapv:UnspecifiedMatching -DOID:11506 suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0029888 semapv:UnspecifiedMatching +DOID:11506 suppurative otitis media oboInOwl:hasDbXref UMLS:C0029888 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref GARD:7594 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref ICD9CM:307.53 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref MESH:D000079562 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref NCI:C92567 semapv:UnspecifiedMatching -DOID:11507 rumination disorder oboInOwl:hasDbXref UMLS_CUI:C0154575 semapv:UnspecifiedMatching +DOID:11507 rumination disorder oboInOwl:hasDbXref UMLS:C0154575 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10CM:I82.0 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching -DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS_CUI:C0019154 semapv:UnspecifiedMatching +DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0019154 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome skos:exactMatch OMIM:600880 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref ICD10CM:K14.5 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref ICD9CM:529.5 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref MESH:D014063 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching -DOID:11514 fissured tongue oboInOwl:hasDbXref UMLS_CUI:C0040412 semapv:UnspecifiedMatching +DOID:11514 fissured tongue oboInOwl:hasDbXref UMLS:C0040412 semapv:UnspecifiedMatching DOID:11514 fissured tongue skos:exactMatch OMIM:137400 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref ICD10CM:I11 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref ICD9CM:402 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref NCI:C157879 semapv:UnspecifiedMatching -DOID:11516 hypertensive heart disease oboInOwl:hasDbXref UMLS_CUI:C0152105 semapv:UnspecifiedMatching +DOID:11516 hypertensive heart disease oboInOwl:hasDbXref UMLS:C0152105 semapv:UnspecifiedMatching DOID:11518 abnormal pupillary function oboInOwl:hasDbXref ICD10CM:H57.09 semapv:UnspecifiedMatching DOID:11518 abnormal pupillary function oboInOwl:hasDbXref ICD9CM:379.49 semapv:UnspecifiedMatching -DOID:11518 abnormal pupillary function oboInOwl:hasDbXref UMLS_CUI:C0155376 semapv:UnspecifiedMatching +DOID:11518 abnormal pupillary function oboInOwl:hasDbXref UMLS:C0155376 semapv:UnspecifiedMatching DOID:11520 benign hypertensive renal disease oboInOwl:hasDbXref ICD9CM:403.1 semapv:UnspecifiedMatching -DOID:11520 benign hypertensive renal disease oboInOwl:hasDbXref UMLS_CUI:C0155596 semapv:UnspecifiedMatching +DOID:11520 benign hypertensive renal disease oboInOwl:hasDbXref UMLS:C0155596 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref ICD10CM:J38.6 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref ICD9CM:478.74 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref MESH:D007829 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref NCI:C79608 semapv:UnspecifiedMatching -DOID:11527 laryngostenosis oboInOwl:hasDbXref UMLS_CUI:C0023075 semapv:UnspecifiedMatching +DOID:11527 laryngostenosis oboInOwl:hasDbXref UMLS:C0023075 semapv:UnspecifiedMatching DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref ICD10CM:H18.83 semapv:UnspecifiedMatching DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref ICD9CM:371.42 semapv:UnspecifiedMatching -DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref UMLS_CUI:C0155119 semapv:UnspecifiedMatching +DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref UMLS:C0155119 semapv:UnspecifiedMatching DOID:11543 corneal abscess oboInOwl:hasDbXref ICD10CM:H16.31 semapv:UnspecifiedMatching DOID:11543 corneal abscess oboInOwl:hasDbXref ICD9CM:370.55 semapv:UnspecifiedMatching DOID:11543 corneal abscess oboInOwl:hasDbXref NCI:C26969 semapv:UnspecifiedMatching -DOID:11543 corneal abscess oboInOwl:hasDbXref UMLS_CUI:C0155091 semapv:UnspecifiedMatching +DOID:11543 corneal abscess oboInOwl:hasDbXref UMLS:C0155091 semapv:UnspecifiedMatching DOID:11547 corneal deposit oboInOwl:hasDbXref ICD10CM:H18.00 semapv:UnspecifiedMatching DOID:11547 corneal deposit oboInOwl:hasDbXref ICD9CM:371.10 semapv:UnspecifiedMatching -DOID:11547 corneal deposit oboInOwl:hasDbXref UMLS_CUI:C0162281 semapv:UnspecifiedMatching +DOID:11547 corneal deposit oboInOwl:hasDbXref UMLS:C0162281 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref GARD:5749 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref MESH:D000270 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref NCI:C34357 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching -DOID:11549 Adie syndrome oboInOwl:hasDbXref UMLS_CUI:C0001519 semapv:UnspecifiedMatching +DOID:11549 Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 semapv:UnspecifiedMatching DOID:11549 Adie syndrome skos:exactMatch MESH:D000270 semapv:UnspecifiedMatching DOID:11549 Adie syndrome skos:exactMatch OMIM:103100 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref ICD10CM:H49.0 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref NCI:C27597 semapv:UnspecifiedMatching -DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C0028866 semapv:UnspecifiedMatching +DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref UMLS:C0028866 semapv:UnspecifiedMatching DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref ICD10CM:H18.31 semapv:UnspecifiedMatching DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref ICD9CM:371.31 semapv:UnspecifiedMatching -DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref UMLS_CUI:C0155115 semapv:UnspecifiedMatching +DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref UMLS:C0155115 semapv:UnspecifiedMatching DOID:11554 Chandler syndrome oboInOwl:hasDbXref MESH:D057129 semapv:UnspecifiedMatching -DOID:11554 Chandler syndrome oboInOwl:hasDbXref UMLS_CUI:C0544008 semapv:UnspecifiedMatching +DOID:11554 Chandler syndrome oboInOwl:hasDbXref UMLS:C0544008 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref EFO:0003946 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref GARD:10018 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ICD10CM:H18.51 semapv:UnspecifiedMatching @@ -19517,136 +19829,136 @@ DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613270 semapv:Un DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613271 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:615523 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ORDO:98974 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref UMLS_CUI:C0016781 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref UMLS:C0016781 semapv:UnspecifiedMatching DOID:11557 acute serous otitis media oboInOwl:hasDbXref ICD10CM:H65.0 semapv:UnspecifiedMatching DOID:11557 acute serous otitis media oboInOwl:hasDbXref ICD9CM:381.01 semapv:UnspecifiedMatching -DOID:11557 acute serous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155415 semapv:UnspecifiedMatching +DOID:11557 acute serous otitis media oboInOwl:hasDbXref UMLS:C0155415 semapv:UnspecifiedMatching DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref ICD9CM:381.04 semapv:UnspecifiedMatching -DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155418 semapv:UnspecifiedMatching +DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref UMLS:C0155418 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ICD9CM:712.1 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref NCI:C34955 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:118600 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:118610 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:600668 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ORDO:1416 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0033802 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0157852 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS:C0033802 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS:C0157852 semapv:UnspecifiedMatching DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref ICD10CM:H35.03 semapv:UnspecifiedMatching DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref ICD9CM:362.11 semapv:UnspecifiedMatching DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref MESH:D058437 semapv:UnspecifiedMatching DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref NCI:C3514 semapv:UnspecifiedMatching -DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref UMLS_CUI:C0152132 semapv:UnspecifiedMatching +DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref UMLS:C0152132 semapv:UnspecifiedMatching DOID:11563 retinal vasculitis oboInOwl:hasDbXref ICD10CM:H35.06 semapv:UnspecifiedMatching DOID:11563 retinal vasculitis oboInOwl:hasDbXref ICD9CM:362.18 semapv:UnspecifiedMatching DOID:11563 retinal vasculitis oboInOwl:hasDbXref MESH:D031300 semapv:UnspecifiedMatching -DOID:11563 retinal vasculitis oboInOwl:hasDbXref UMLS_CUI:C0152026 semapv:UnspecifiedMatching +DOID:11563 retinal vasculitis oboInOwl:hasDbXref UMLS:C0152026 semapv:UnspecifiedMatching DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref ICD9CM:306.2 semapv:UnspecifiedMatching DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref MESH:D009449 semapv:UnspecifiedMatching -DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref UMLS_CUI:C0027821 semapv:UnspecifiedMatching +DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref UMLS:C0027821 semapv:UnspecifiedMatching DOID:11572 Listeria meningitis oboInOwl:hasDbXref MESH:D008584 semapv:UnspecifiedMatching -DOID:11572 Listeria meningitis oboInOwl:hasDbXref UMLS_CUI:C0025293 semapv:UnspecifiedMatching +DOID:11572 Listeria meningitis oboInOwl:hasDbXref UMLS:C0025293 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref ICD10CM:A32 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref ICD9CM:027.0 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref MESH:D008088 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref NCI:C82994 semapv:UnspecifiedMatching -DOID:11573 listeriosis oboInOwl:hasDbXref UMLS_CUI:C0023860 semapv:UnspecifiedMatching +DOID:11573 listeriosis oboInOwl:hasDbXref UMLS:C0023860 semapv:UnspecifiedMatching DOID:11574 streptococcal meningitis oboInOwl:hasDbXref ICD10CM:G00.2 semapv:UnspecifiedMatching DOID:11574 streptococcal meningitis oboInOwl:hasDbXref ICD9CM:320.2 semapv:UnspecifiedMatching -DOID:11574 streptococcal meningitis oboInOwl:hasDbXref UMLS_CUI:C0154639 semapv:UnspecifiedMatching +DOID:11574 streptococcal meningitis oboInOwl:hasDbXref UMLS:C0154639 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref GARD:10987 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref ICD10CM:G83.4 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref ICD9CM:344.6 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref MESH:D000077684 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref NCI:C35436 semapv:UnspecifiedMatching -DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref UMLS_CUI:C0392548 semapv:UnspecifiedMatching +DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref UMLS:C0392548 semapv:UnspecifiedMatching DOID:11581 phlyctenulosis oboInOwl:hasDbXref ICD10CM:H16.25 semapv:UnspecifiedMatching DOID:11581 phlyctenulosis oboInOwl:hasDbXref ICD9CM:370.31 semapv:UnspecifiedMatching -DOID:11581 phlyctenulosis oboInOwl:hasDbXref UMLS_CUI:C0155080 semapv:UnspecifiedMatching +DOID:11581 phlyctenulosis oboInOwl:hasDbXref UMLS:C0155080 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref ICD10CM:G90.1 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref MESH:D004402 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref NCI:C84706 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching -DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref UMLS_CUI:C0013364 semapv:UnspecifiedMatching +DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref UMLS:C0013364 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome skos:exactMatch OMIM:223900 semapv:UnspecifiedMatching DOID:1159 functional gastric disease oboInOwl:hasDbXref ICD9CM:536.8 semapv:UnspecifiedMatching -DOID:1159 functional gastric disease oboInOwl:hasDbXref UMLS_CUI:C0013396 semapv:UnspecifiedMatching +DOID:1159 functional gastric disease oboInOwl:hasDbXref UMLS:C0013396 semapv:UnspecifiedMatching DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD10CM:C67.2 semapv:UnspecifiedMatching DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD9CM:188.2 semapv:UnspecifiedMatching DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref NCI:C12333 semapv:UnspecifiedMatching -DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref UMLS_CUI:C0496828 semapv:UnspecifiedMatching +DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref UMLS:C0496828 semapv:UnspecifiedMatching DOID:11594 ring staphyloma oboInOwl:hasDbXref ICD10CM:H15.85 semapv:UnspecifiedMatching DOID:11594 ring staphyloma oboInOwl:hasDbXref ICD9CM:379.15 semapv:UnspecifiedMatching -DOID:11594 ring staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155363 semapv:UnspecifiedMatching -DOID:11595 scleral staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155359 semapv:UnspecifiedMatching +DOID:11594 ring staphyloma oboInOwl:hasDbXref UMLS:C0155363 semapv:UnspecifiedMatching +DOID:11595 scleral staphyloma oboInOwl:hasDbXref UMLS:C0155359 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref GARD:6467 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref MESH:D013547 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref OMIM:144100 semapv:UnspecifiedMatching -DOID:11599 Frey syndrome oboInOwl:hasDbXref UMLS_CUI:C0038994 semapv:UnspecifiedMatching +DOID:11599 Frey syndrome oboInOwl:hasDbXref UMLS:C0038994 semapv:UnspecifiedMatching DOID:11599 Frey syndrome skos:exactMatch OMIM:144100 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref ICD10CM:C38.0 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4567 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4651 semapv:UnspecifiedMatching -DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346609 semapv:UnspecifiedMatching -DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS_CUI:C0349574 semapv:UnspecifiedMatching +DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS:C0346609 semapv:UnspecifiedMatching +DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS:C0349574 semapv:UnspecifiedMatching DOID:11603 infant gynecomastia oboInOwl:hasDbXref ICD10CM:P83.4 semapv:UnspecifiedMatching DOID:11603 infant gynecomastia oboInOwl:hasDbXref ICD9CM:778.7 semapv:UnspecifiedMatching DOID:11603 infant gynecomastia oboInOwl:hasDbXref MESH:D006177 semapv:UnspecifiedMatching DOID:11603 infant gynecomastia oboInOwl:hasDbXref NCI:C117312 semapv:UnspecifiedMatching -DOID:11603 infant gynecomastia oboInOwl:hasDbXref UMLS_CUI:C1449721 semapv:UnspecifiedMatching +DOID:11603 infant gynecomastia oboInOwl:hasDbXref UMLS:C1449721 semapv:UnspecifiedMatching DOID:11608 fungal meningitis oboInOwl:hasDbXref MESH:D016921 semapv:UnspecifiedMatching -DOID:11608 fungal meningitis oboInOwl:hasDbXref UMLS_CUI:C0085438 semapv:UnspecifiedMatching +DOID:11608 fungal meningitis oboInOwl:hasDbXref UMLS:C0085438 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref EFO:0000660 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD10CM:E28.2 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD9CM:256.4 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref MESH:D011085 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref NCI:C26862 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref OMIM:184700 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref UMLS_CUI:C0032460 semapv:UnspecifiedMatching +DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref UMLS:C0032460 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome skos:exactMatch OMIM:184700 semapv:UnspecifiedMatching DOID:11613 hyperandrogenism oboInOwl:hasDbXref MESH:D017588 semapv:UnspecifiedMatching -DOID:11613 hyperandrogenism oboInOwl:hasDbXref UMLS_CUI:C0206081 semapv:UnspecifiedMatching +DOID:11613 hyperandrogenism oboInOwl:hasDbXref UMLS:C0206081 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD10CM:C60 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD10CM:C60.2 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD9CM:187.3 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD9CM:187.4 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref MESH:D010412 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref NCI:C7547 semapv:UnspecifiedMatching -DOID:11615 penile cancer oboInOwl:hasDbXref UMLS_CUI:C0153600 semapv:UnspecifiedMatching -DOID:11615 penile cancer oboInOwl:hasDbXref UMLS_CUI:C0153601 semapv:UnspecifiedMatching +DOID:11615 penile cancer oboInOwl:hasDbXref UMLS:C0153600 semapv:UnspecifiedMatching +DOID:11615 penile cancer oboInOwl:hasDbXref UMLS:C0153601 semapv:UnspecifiedMatching DOID:11623 dental pulp necrosis oboInOwl:hasDbXref ICD10CM:K04.1 semapv:UnspecifiedMatching DOID:11623 dental pulp necrosis oboInOwl:hasDbXref ICD9CM:522.1 semapv:UnspecifiedMatching DOID:11623 dental pulp necrosis oboInOwl:hasDbXref MESH:D003790 semapv:UnspecifiedMatching -DOID:11623 dental pulp necrosis oboInOwl:hasDbXref UMLS_CUI:C0011407 semapv:UnspecifiedMatching +DOID:11623 dental pulp necrosis oboInOwl:hasDbXref UMLS:C0011407 semapv:UnspecifiedMatching DOID:11624 penile benign neoplasm oboInOwl:hasDbXref MESH:D010412 semapv:UnspecifiedMatching DOID:11624 penile benign neoplasm oboInOwl:hasDbXref NCI:C3317 semapv:UnspecifiedMatching -DOID:11624 penile benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0030849 semapv:UnspecifiedMatching +DOID:11624 penile benign neoplasm oboInOwl:hasDbXref UMLS:C0030849 semapv:UnspecifiedMatching DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref ICD10CM:N81.84 semapv:UnspecifiedMatching DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref ICD9CM:618.83 semapv:UnspecifiedMatching -DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref UMLS_CUI:C1456255 semapv:UnspecifiedMatching +DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref UMLS:C1456255 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref MESH:D018382 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref NCI:C85191 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching -DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref UMLS_CUI:C2940786 semapv:UnspecifiedMatching +DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref UMLS:C2940786 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref ICD10CM:E03.9 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref MESH:D009230 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref NCI:C34834 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref OMIM:255900 semapv:UnspecifiedMatching -DOID:11634 myxedema oboInOwl:hasDbXref UMLS_CUI:C0027145 semapv:UnspecifiedMatching +DOID:11634 myxedema oboInOwl:hasDbXref UMLS:C0027145 semapv:UnspecifiedMatching DOID:11634 myxedema skos:exactMatch OMIM:255900 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD10CM:H52.53 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD9CM:367.53 semapv:UnspecifiedMatching -DOID:11637 accommodative spasm oboInOwl:hasDbXref UMLS_CUI:C0152196 semapv:UnspecifiedMatching +DOID:11637 accommodative spasm oboInOwl:hasDbXref UMLS:C0152196 semapv:UnspecifiedMatching DOID:11638 presbyopia oboInOwl:hasDbXref ICD10CM:H52.4 semapv:UnspecifiedMatching DOID:11638 presbyopia oboInOwl:hasDbXref ICD9CM:367.4 semapv:UnspecifiedMatching DOID:11638 presbyopia oboInOwl:hasDbXref MESH:D011305 semapv:UnspecifiedMatching -DOID:11638 presbyopia oboInOwl:hasDbXref UMLS_CUI:C0033075 semapv:UnspecifiedMatching +DOID:11638 presbyopia oboInOwl:hasDbXref UMLS:C0033075 semapv:UnspecifiedMatching DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10CM:P27.1 semapv:UnspecifiedMatching DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref MESH:D001997 semapv:UnspecifiedMatching DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref NCI:C90599 semapv:UnspecifiedMatching DOID:11653 conjunctival deposit oboInOwl:hasDbXref ICD10CM:H11.11 semapv:UnspecifiedMatching DOID:11653 conjunctival deposit oboInOwl:hasDbXref ICD9CM:372.56 semapv:UnspecifiedMatching -DOID:11653 conjunctival deposit oboInOwl:hasDbXref UMLS_CUI:C0162280 semapv:UnspecifiedMatching +DOID:11653 conjunctival deposit oboInOwl:hasDbXref UMLS:C0162280 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref GARD:5913 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD10CM:L12.1 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.6 semapv:UnspecifiedMatching @@ -19654,112 +19966,112 @@ DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.61 semapv:Unspec DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref MESH:D010390 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref NCI:C34907 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref OMIM:164185 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0030804 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0157721 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C0030804 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C0157721 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid skos:exactMatch OMIM:164185 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref GARD:7304 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD10CM:M12.3 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD9CM:719.3 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD9CM:719.31 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref MESH:C538103 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS_CUI:C0085574 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS_CUI:C0158178 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS:C0085574 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS:C0158178 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref ICD10CM:H53.55 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref ICD9CM:368.53 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatching -DOID:11661 blue color blindness oboInOwl:hasDbXref UMLS_CUI:C0155017 semapv:UnspecifiedMatching +DOID:11661 blue color blindness oboInOwl:hasDbXref UMLS:C0155017 semapv:UnspecifiedMatching DOID:11661 blue color blindness skos:exactMatch OMIM:190900 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref GARD:7179 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref ICD10CM:I12 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref ICD9CM:587 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref MESH:D009400 semapv:UnspecifiedMatching -DOID:11664 nephrosclerosis oboInOwl:hasDbXref UMLS_CUI:C0027719 semapv:UnspecifiedMatching +DOID:11664 nephrosclerosis oboInOwl:hasDbXref UMLS:C0027719 semapv:UnspecifiedMatching DOID:11665 Patau syndrome oboInOwl:hasDbXref ICD10CM:Q91.7 semapv:UnspecifiedMatching DOID:11665 Patau syndrome oboInOwl:hasDbXref ICD9CM:758.1 semapv:UnspecifiedMatching DOID:11665 Patau syndrome oboInOwl:hasDbXref MESH:D000073839 semapv:UnspecifiedMatching DOID:11665 Patau syndrome oboInOwl:hasDbXref NCI:C101223 semapv:UnspecifiedMatching -DOID:11665 Patau syndrome oboInOwl:hasDbXref UMLS_CUI:C0152095 semapv:UnspecifiedMatching +DOID:11665 Patau syndrome oboInOwl:hasDbXref UMLS:C0152095 semapv:UnspecifiedMatching DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref ICD10CM:H02.73 semapv:UnspecifiedMatching DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref ICD9CM:374.53 semapv:UnspecifiedMatching -DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155212 semapv:UnspecifiedMatching +DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref UMLS:C0155212 semapv:UnspecifiedMatching DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref ICD10CM:H02.86 semapv:UnspecifiedMatching DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref ICD9CM:374.54 semapv:UnspecifiedMatching -DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155213 semapv:UnspecifiedMatching +DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref UMLS:C0155213 semapv:UnspecifiedMatching DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref ICD10CM:H02.72 semapv:UnspecifiedMatching DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref ICD9CM:374.55 semapv:UnspecifiedMatching -DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155214 semapv:UnspecifiedMatching +DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref UMLS:C0155214 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref GARD:7252 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref ICD10CM:B73 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref ICD9CM:125.3 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref MESH:D009855 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref NCI:C34861 semapv:UnspecifiedMatching -DOID:11678 onchocerciasis oboInOwl:hasDbXref UMLS_CUI:C0029001 semapv:UnspecifiedMatching +DOID:11678 onchocerciasis oboInOwl:hasDbXref UMLS:C0029001 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref ICD10CM:E78.5 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref MESH:D006949 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref MESH:D006951 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref NCI:C34707 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref NCI:C34709 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020473 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020476 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS:C0020473 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS:C0020476 semapv:UnspecifiedMatching DOID:11684 melanoacanthoma oboInOwl:hasDbXref NCI:C27548 semapv:UnspecifiedMatching -DOID:11684 melanoacanthoma oboInOwl:hasDbXref UMLS_CUI:C1321683 semapv:UnspecifiedMatching +DOID:11684 melanoacanthoma oboInOwl:hasDbXref UMLS:C1321683 semapv:UnspecifiedMatching DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82.0 semapv:UnspecifiedMatching DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref ICD9CM:702.11 semapv:UnspecifiedMatching -DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C0376117 semapv:UnspecifiedMatching +DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref UMLS:C0376117 semapv:UnspecifiedMatching DOID:11693 acute apical periodontitis oboInOwl:hasDbXref ICD10CM:K04.4 semapv:UnspecifiedMatching DOID:11693 acute apical periodontitis oboInOwl:hasDbXref ICD9CM:522.4 semapv:UnspecifiedMatching -DOID:11693 acute apical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0155934 semapv:UnspecifiedMatching +DOID:11693 acute apical periodontitis oboInOwl:hasDbXref UMLS:C0155934 semapv:UnspecifiedMatching DOID:11695 portal vein thrombosis oboInOwl:hasDbXref ICD10CM:I81 semapv:UnspecifiedMatching DOID:11695 portal vein thrombosis oboInOwl:hasDbXref ICD9CM:452 semapv:UnspecifiedMatching DOID:11695 portal vein thrombosis oboInOwl:hasDbXref NCI:C78565 semapv:UnspecifiedMatching -DOID:11695 portal vein thrombosis oboInOwl:hasDbXref UMLS_CUI:C0155773 semapv:UnspecifiedMatching +DOID:11695 portal vein thrombosis oboInOwl:hasDbXref UMLS:C0155773 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref GARD:2619 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref ICD10CM:C38.0 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref ICD9CM:164.1 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref MESH:D006338 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref NCI:C3081 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref NCI:C3548 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref UMLS_CUI:C0018809 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref UMLS_CUI:C0153500 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref UMLS:C0018809 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref UMLS:C0153500 semapv:UnspecifiedMatching DOID:11701 selective IgA deficiency disease oboInOwl:hasDbXref MESH:D017098 semapv:UnspecifiedMatching -DOID:11701 selective IgA deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0162538 semapv:UnspecifiedMatching +DOID:11701 selective IgA deficiency disease oboInOwl:hasDbXref UMLS:C0162538 semapv:UnspecifiedMatching DOID:11702 dysgammaglobulinemia oboInOwl:hasDbXref MESH:D004406 semapv:UnspecifiedMatching -DOID:11702 dysgammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0013374 semapv:UnspecifiedMatching +DOID:11702 dysgammaglobulinemia oboInOwl:hasDbXref UMLS:C0013374 semapv:UnspecifiedMatching DOID:11702 dysgammaglobulinemia skos:exactMatch MESH:D004406 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref MESH:D006954 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref NCI:C35645 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching -DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref UMLS_CUI:C0020481 semapv:UnspecifiedMatching +DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref UMLS:C0020481 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V skos:exactMatch OMIM:144650 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref MESH:D003923 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref NCI:C34537 semapv:UnspecifiedMatching -DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011859 semapv:UnspecifiedMatching +DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref UMLS:C0011859 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref ICD9CM:250.7 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref MESH:D003925 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref NCI:C35610 semapv:UnspecifiedMatching -DOID:11713 diabetic angiopathy oboInOwl:hasDbXref UMLS_CUI:C0011871 semapv:UnspecifiedMatching -DOID:11713 diabetic angiopathy oboInOwl:hasDbXref UMLS_CUI:C0011875 semapv:UnspecifiedMatching +DOID:11713 diabetic angiopathy oboInOwl:hasDbXref UMLS:C0011871 semapv:UnspecifiedMatching +DOID:11713 diabetic angiopathy oboInOwl:hasDbXref UMLS:C0011875 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref EFO:0004593 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref ICD10CM:O24.4 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref MESH:D016640 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref NCI:C34942 semapv:UnspecifiedMatching -DOID:11714 gestational diabetes oboInOwl:hasDbXref UMLS_CUI:C0085207 semapv:UnspecifiedMatching +DOID:11714 gestational diabetes oboInOwl:hasDbXref UMLS:C0085207 semapv:UnspecifiedMatching DOID:11716 prediabetes syndrome oboInOwl:hasDbXref ICD10CM:R73.03 semapv:UnspecifiedMatching DOID:11716 prediabetes syndrome oboInOwl:hasDbXref MESH:D011236 semapv:UnspecifiedMatching DOID:11716 prediabetes syndrome oboInOwl:hasDbXref NCI:C122685 semapv:UnspecifiedMatching -DOID:11716 prediabetes syndrome oboInOwl:hasDbXref UMLS_CUI:C0362046 semapv:UnspecifiedMatching +DOID:11716 prediabetes syndrome oboInOwl:hasDbXref UMLS:C0362046 semapv:UnspecifiedMatching DOID:11717 neonatal diabetes oboInOwl:hasDbXref ICD10CM:P70.2 semapv:UnspecifiedMatching DOID:11717 neonatal diabetes oboInOwl:hasDbXref ICD9CM:775.1 semapv:UnspecifiedMatching DOID:11717 neonatal diabetes oboInOwl:hasDbXref NCI:C99248 semapv:UnspecifiedMatching -DOID:11717 neonatal diabetes oboInOwl:hasDbXref UMLS_CUI:C0158981 semapv:UnspecifiedMatching +DOID:11717 neonatal diabetes oboInOwl:hasDbXref UMLS:C0158981 semapv:UnspecifiedMatching DOID:11718 antidepressant type abuse oboInOwl:hasDbXref ICD9CM:305.8 semapv:UnspecifiedMatching -DOID:11718 antidepressant type abuse oboInOwl:hasDbXref UMLS_CUI:C0154540 semapv:UnspecifiedMatching +DOID:11718 antidepressant type abuse oboInOwl:hasDbXref UMLS:C0154540 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.09 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref NCI:C84942 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 semapv:UnspecifiedMatching -DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0270952 semapv:UnspecifiedMatching +DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS:C0270952 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy skos:exactMatch OMIM:164300 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref ICD10CM:E78.1 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref ICD9CM:272.1 semapv:UnspecifiedMatching @@ -19767,19 +20079,21 @@ DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref MESH:D006953 semapv:Un DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref NCI:C34711 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:144600 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:145750 semapv:UnspecifiedMatching -DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref UMLS_CUI:C0020480 semapv:UnspecifiedMatching +DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref UMLS:C0020480 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ICD10CM:G71.09 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref NCI:C84675 semapv:UnspecifiedMatching +DOID:11720 distal myopathy oboInOwl:hasDbXref OMIMPS:160500 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:399096 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:5448 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:59135 semapv:UnspecifiedMatching -DOID:11720 distal myopathy oboInOwl:hasDbXref UMLS_CUI:C0751336 semapv:UnspecifiedMatching +DOID:11720 distal myopathy oboInOwl:hasDbXref UMLS:C0751336 semapv:UnspecifiedMatching +DOID:11720 distal myopathy skos:exactMatch OMIMPS:160500 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref MESH:D006014 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref NCI:C118437 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref OMIM:232800 semapv:UnspecifiedMatching -DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref UMLS_CUI:C0017926 semapv:UnspecifiedMatching +DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref UMLS:C0017926 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII skos:exactMatch OMIM:232800 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref GARD:8310 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD10CM:G71.11 semapv:UnspecifiedMatching @@ -19787,179 +20101,179 @@ DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD9CM:359.21 semapv:Uns DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref MESH:D009223 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref NCI:C84914 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching -DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref UMLS_CUI:C0027126 semapv:UnspecifiedMatching +DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref UMLS:C0027126 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 skos:exactMatch OMIM:160900 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref GARD:6291 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref NCI:C75482 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref OMIM:310200 semapv:UnspecifiedMatching -DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0013264 semapv:UnspecifiedMatching +DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS:C0013264 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy skos:exactMatch OMIM:310200 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref GARD:6907 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.03 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref NCI:C84828 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:263 semapv:UnspecifiedMatching -DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0686353 semapv:UnspecifiedMatching +DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C0686353 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref GARD:10109 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref MESH:D003635 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref NCI:C75016 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIMPS:122470 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref ORDO:199 semapv:UnspecifiedMatching -DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref UMLS_CUI:C0270972 semapv:UnspecifiedMatching +DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref UMLS:C0270972 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome skos:exactMatch OMIMPS:122470 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref GARD:6329 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref NCI:C84685 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIMPS:310300 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ORDO:261 semapv:UnspecifiedMatching -DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0410189 semapv:UnspecifiedMatching +DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410189 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy skos:exactMatch OMIMPS:310300 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref GARD:9941 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.02 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref MESH:D020391 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref NCI:C84704 semapv:UnspecifiedMatching -DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0238288 semapv:UnspecifiedMatching +DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref UMLS:C0238288 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref GARD:12073 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref ICD10CM:A69.2 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref ICD9CM:088.81 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref MESH:D008193 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref MESH:D020852 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref NCI:C45161 semapv:UnspecifiedMatching -DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS_CUI:C0024198 semapv:UnspecifiedMatching -DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS_CUI:C0752235 semapv:UnspecifiedMatching +DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS:C0024198 semapv:UnspecifiedMatching +DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS:C0752235 semapv:UnspecifiedMatching DOID:11736 odontoclasia oboInOwl:hasDbXref ICD9CM:521.05 semapv:UnspecifiedMatching -DOID:11736 odontoclasia oboInOwl:hasDbXref UMLS_CUI:C0341004 semapv:UnspecifiedMatching +DOID:11736 odontoclasia oboInOwl:hasDbXref UMLS:C0341004 semapv:UnspecifiedMatching DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.3 semapv:UnspecifiedMatching DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref ICD9CM:183.4 semapv:UnspecifiedMatching -DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153581 semapv:UnspecifiedMatching +DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref UMLS:C0153581 semapv:UnspecifiedMatching DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD10CM:C57.4 semapv:UnspecifiedMatching DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD9CM:183 semapv:UnspecifiedMatching DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD9CM:183.9 semapv:UnspecifiedMatching -DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS_CUI:C0153577 semapv:UnspecifiedMatching -DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS_CUI:C0153584 semapv:UnspecifiedMatching +DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS:C0153577 semapv:UnspecifiedMatching +DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS:C0153584 semapv:UnspecifiedMatching DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.2 semapv:UnspecifiedMatching DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref ICD9CM:183.5 semapv:UnspecifiedMatching -DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346867 semapv:UnspecifiedMatching +DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref UMLS:C0346867 semapv:UnspecifiedMatching DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref ICD10CM:A37.1 semapv:UnspecifiedMatching DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref ICD9CM:033.1 semapv:UnspecifiedMatching -DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref UMLS_CUI:C0275742 semapv:UnspecifiedMatching +DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref UMLS:C0275742 semapv:UnspecifiedMatching DOID:11752 acute endophthalmitis oboInOwl:hasDbXref ICD9CM:360.01 semapv:UnspecifiedMatching -DOID:11752 acute endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0154773 semapv:UnspecifiedMatching +DOID:11752 acute endophthalmitis oboInOwl:hasDbXref UMLS:C0154773 semapv:UnspecifiedMatching DOID:11754 siderosis of eye oboInOwl:hasDbXref ICD10CM:H44.32 semapv:UnspecifiedMatching DOID:11754 siderosis of eye oboInOwl:hasDbXref ICD9CM:360.23 semapv:UnspecifiedMatching -DOID:11754 siderosis of eye oboInOwl:hasDbXref UMLS_CUI:C0271001 semapv:UnspecifiedMatching +DOID:11754 siderosis of eye oboInOwl:hasDbXref UMLS:C0271001 semapv:UnspecifiedMatching DOID:11755 choledocholithiasis oboInOwl:hasDbXref MESH:D042883 semapv:UnspecifiedMatching -DOID:11755 choledocholithiasis oboInOwl:hasDbXref UMLS_CUI:C0701818 semapv:UnspecifiedMatching +DOID:11755 choledocholithiasis oboInOwl:hasDbXref UMLS:C0701818 semapv:UnspecifiedMatching DOID:11758 iron deficiency anemia oboInOwl:hasDbXref ICD9CM:280.8 semapv:UnspecifiedMatching -DOID:11758 iron deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0029810 semapv:UnspecifiedMatching +DOID:11758 iron deficiency anemia oboInOwl:hasDbXref UMLS:C0029810 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref ICD10CM:D50 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref MESH:D000747 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref NCI:C34380 semapv:UnspecifiedMatching -DOID:11759 hypochromic anemia oboInOwl:hasDbXref UMLS_CUI:C0002884 semapv:UnspecifiedMatching +DOID:11759 hypochromic anemia oboInOwl:hasDbXref UMLS:C0002884 semapv:UnspecifiedMatching DOID:1176 bronchial disease oboInOwl:hasDbXref MESH:D001982 semapv:UnspecifiedMatching -DOID:1176 bronchial disease oboInOwl:hasDbXref UMLS_CUI:C0006261 semapv:UnspecifiedMatching +DOID:1176 bronchial disease oboInOwl:hasDbXref UMLS:C0006261 semapv:UnspecifiedMatching DOID:11760 Kohler's disease oboInOwl:hasDbXref GARD:6842 semapv:UnspecifiedMatching DOID:11760 Kohler's disease oboInOwl:hasDbXref ICD9CM:732.5 semapv:UnspecifiedMatching -DOID:11760 Kohler's disease oboInOwl:hasDbXref UMLS_CUI:C0158444 semapv:UnspecifiedMatching +DOID:11760 Kohler's disease oboInOwl:hasDbXref UMLS:C0158444 semapv:UnspecifiedMatching DOID:11766 blind hypotensive eye oboInOwl:hasDbXref ICD9CM:360.41 semapv:UnspecifiedMatching -DOID:11766 blind hypotensive eye oboInOwl:hasDbXref UMLS_CUI:C0154788 semapv:UnspecifiedMatching +DOID:11766 blind hypotensive eye oboInOwl:hasDbXref UMLS:C0154788 semapv:UnspecifiedMatching DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref ICD10CM:H55.03 semapv:UnspecifiedMatching DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref ICD9CM:379.53 semapv:UnspecifiedMatching DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching -DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref UMLS_CUI:C0271384 semapv:UnspecifiedMatching +DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref UMLS:C0271384 semapv:UnspecifiedMatching DOID:11772 leukocoria oboInOwl:hasDbXref ICD10CM:H44.53 semapv:UnspecifiedMatching DOID:11772 leukocoria oboInOwl:hasDbXref ICD9CM:360.44 semapv:UnspecifiedMatching -DOID:11772 leukocoria oboInOwl:hasDbXref UMLS_CUI:C0152458 semapv:UnspecifiedMatching +DOID:11772 leukocoria oboInOwl:hasDbXref UMLS:C0152458 semapv:UnspecifiedMatching DOID:11776 absolute glaucoma oboInOwl:hasDbXref ICD9CM:360.42 semapv:UnspecifiedMatching -DOID:11776 absolute glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154789 semapv:UnspecifiedMatching +DOID:11776 absolute glaucoma oboInOwl:hasDbXref UMLS:C0154789 semapv:UnspecifiedMatching DOID:11781 regular astigmatism oboInOwl:hasDbXref ICD10CM:H52.22 semapv:UnspecifiedMatching DOID:11781 regular astigmatism oboInOwl:hasDbXref ICD9CM:367.21 semapv:UnspecifiedMatching -DOID:11781 regular astigmatism oboInOwl:hasDbXref UMLS_CUI:C0152193 semapv:UnspecifiedMatching +DOID:11781 regular astigmatism oboInOwl:hasDbXref UMLS:C0152193 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref EFO:0004222 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref ICD10CM:H52.2 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref ICD9CM:367.2 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref MESH:D001251 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref OMIM:603047 semapv:UnspecifiedMatching -DOID:11782 astigmatism oboInOwl:hasDbXref UMLS_CUI:C0004106 semapv:UnspecifiedMatching +DOID:11782 astigmatism oboInOwl:hasDbXref UMLS:C0004106 semapv:UnspecifiedMatching DOID:11782 astigmatism skos:exactMatch OMIM:603047 semapv:UnspecifiedMatching DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref ICD9CM:385.24 semapv:UnspecifiedMatching -DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref UMLS_CUI:C0155488 semapv:UnspecifiedMatching +DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref UMLS:C0155488 semapv:UnspecifiedMatching DOID:11786 splenic sequestration oboInOwl:hasDbXref ICD9CM:289.52 semapv:UnspecifiedMatching -DOID:11786 splenic sequestration oboInOwl:hasDbXref UMLS_CUI:C1260402 semapv:UnspecifiedMatching +DOID:11786 splenic sequestration oboInOwl:hasDbXref UMLS:C1260402 semapv:UnspecifiedMatching DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref ICD10CM:D73.2 semapv:UnspecifiedMatching DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref ICD9CM:289.51 semapv:UnspecifiedMatching -DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref UMLS_CUI:C0398661 semapv:UnspecifiedMatching +DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref UMLS:C0398661 semapv:UnspecifiedMatching DOID:11793 phthisical cornea oboInOwl:hasDbXref ICD9CM:371.05 semapv:UnspecifiedMatching -DOID:11793 phthisical cornea oboInOwl:hasDbXref UMLS_CUI:C0155102 semapv:UnspecifiedMatching +DOID:11793 phthisical cornea oboInOwl:hasDbXref UMLS:C0155102 semapv:UnspecifiedMatching DOID:11797 chronic laryngitis oboInOwl:hasDbXref ICD10CM:J37.0 semapv:UnspecifiedMatching DOID:11797 chronic laryngitis oboInOwl:hasDbXref ICD9CM:476.0 semapv:UnspecifiedMatching DOID:11797 chronic laryngitis oboInOwl:hasDbXref NCI:C26975 semapv:UnspecifiedMatching -DOID:11797 chronic laryngitis oboInOwl:hasDbXref UMLS_CUI:C0155836 semapv:UnspecifiedMatching +DOID:11797 chronic laryngitis oboInOwl:hasDbXref UMLS:C0155836 semapv:UnspecifiedMatching DOID:118 pericardial effusion oboInOwl:hasDbXref MESH:D010490 semapv:UnspecifiedMatching DOID:118 pericardial effusion oboInOwl:hasDbXref NCI:C3319 semapv:UnspecifiedMatching -DOID:118 pericardial effusion oboInOwl:hasDbXref UMLS_CUI:C0031039 semapv:UnspecifiedMatching +DOID:118 pericardial effusion oboInOwl:hasDbXref UMLS:C0031039 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref ICD10CM:E46 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref ICD9CM:263.9 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref MESH:D011502 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref NCI:C34952 semapv:UnspecifiedMatching -DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref UMLS_CUI:C0033677 semapv:UnspecifiedMatching +DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref UMLS:C0033677 semapv:UnspecifiedMatching DOID:11809 bladder neck cancer oboInOwl:hasDbXref ICD10CM:C67.5 semapv:UnspecifiedMatching DOID:11809 bladder neck cancer oboInOwl:hasDbXref ICD9CM:188.5 semapv:UnspecifiedMatching -DOID:11809 bladder neck cancer oboInOwl:hasDbXref UMLS_CUI:C0153613 semapv:UnspecifiedMatching +DOID:11809 bladder neck cancer oboInOwl:hasDbXref UMLS:C0153613 semapv:UnspecifiedMatching DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref ICD10CM:C67.4 semapv:UnspecifiedMatching DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref ICD9CM:188.4 semapv:UnspecifiedMatching -DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref UMLS_CUI:C0153612 semapv:UnspecifiedMatching +DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref UMLS:C0153612 semapv:UnspecifiedMatching DOID:11812 bladder sarcoma oboInOwl:hasDbXref NCI:C4669 semapv:UnspecifiedMatching -DOID:11812 bladder sarcoma oboInOwl:hasDbXref UMLS_CUI:C0349666 semapv:UnspecifiedMatching +DOID:11812 bladder sarcoma oboInOwl:hasDbXref UMLS:C0349666 semapv:UnspecifiedMatching DOID:11813 bladder trigone cancer oboInOwl:hasDbXref ICD10CM:C67.0 semapv:UnspecifiedMatching DOID:11813 bladder trigone cancer oboInOwl:hasDbXref ICD9CM:188.0 semapv:UnspecifiedMatching -DOID:11813 bladder trigone cancer oboInOwl:hasDbXref UMLS_CUI:C0496826 semapv:UnspecifiedMatching +DOID:11813 bladder trigone cancer oboInOwl:hasDbXref UMLS:C0496826 semapv:UnspecifiedMatching DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref ICD10CM:C67.3 semapv:UnspecifiedMatching DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref ICD9CM:188.3 semapv:UnspecifiedMatching -DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref UMLS_CUI:C0153611 semapv:UnspecifiedMatching +DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref UMLS:C0153611 semapv:UnspecifiedMatching DOID:11816 vitreous syneresis oboInOwl:hasDbXref ICD10CM:H43.81 semapv:UnspecifiedMatching DOID:11816 vitreous syneresis oboInOwl:hasDbXref ICD9CM:379.21 semapv:UnspecifiedMatching -DOID:11816 vitreous syneresis oboInOwl:hasDbXref UMLS_CUI:C0155366 semapv:UnspecifiedMatching +DOID:11816 vitreous syneresis oboInOwl:hasDbXref UMLS:C0155366 semapv:UnspecifiedMatching DOID:11817 urachus cancer oboInOwl:hasDbXref GARD:7836 semapv:UnspecifiedMatching DOID:11817 urachus cancer oboInOwl:hasDbXref ICD10CM:C67.7 semapv:UnspecifiedMatching DOID:11817 urachus cancer oboInOwl:hasDbXref ICD9CM:188.7 semapv:UnspecifiedMatching -DOID:11817 urachus cancer oboInOwl:hasDbXref UMLS_CUI:C0153615 semapv:UnspecifiedMatching +DOID:11817 urachus cancer oboInOwl:hasDbXref UMLS:C0153615 semapv:UnspecifiedMatching DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref ICD10CM:C67.6 semapv:UnspecifiedMatching DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref ICD9CM:188.6 semapv:UnspecifiedMatching DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref NCI:C12337 semapv:UnspecifiedMatching -DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref UMLS_CUI:C0153614 semapv:UnspecifiedMatching +DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref UMLS:C0153614 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref ICD10CM:C66 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref ICD9CM:189.2 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref MESH:D014516 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref NCI:C7543 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref OMIM:191600 semapv:UnspecifiedMatching -DOID:11819 ureter cancer oboInOwl:hasDbXref UMLS_CUI:C0153619 semapv:UnspecifiedMatching +DOID:11819 ureter cancer oboInOwl:hasDbXref UMLS:C0153619 semapv:UnspecifiedMatching DOID:11819 ureter cancer skos:exactMatch OMIM:191600 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD10CM:C67.1 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD9CM:188.1 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref NCI:C12332 semapv:UnspecifiedMatching -DOID:11820 bladder dome cancer oboInOwl:hasDbXref UMLS_CUI:C0496827 semapv:UnspecifiedMatching +DOID:11820 bladder dome cancer oboInOwl:hasDbXref UMLS:C0496827 semapv:UnspecifiedMatching DOID:11821 bladder lymphoma oboInOwl:hasDbXref NCI:C6164 semapv:UnspecifiedMatching -DOID:11821 bladder lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332561 semapv:UnspecifiedMatching +DOID:11821 bladder lymphoma oboInOwl:hasDbXref UMLS:C1332561 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref GARD:6610 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref ICD10CM:K76.7 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref ICD9CM:572.4 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref MESH:D006530 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref NCI:C113400 semapv:UnspecifiedMatching -DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0019212 semapv:UnspecifiedMatching +DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref UMLS:C0019212 semapv:UnspecifiedMatching DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref GARD:7103 semapv:UnspecifiedMatching DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10CM:E78.81 semapv:UnspecifiedMatching DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref NCI:C27896 semapv:UnspecifiedMatching DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref ORDO:139436 semapv:UnspecifiedMatching -DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS_CUI:C0311284 semapv:UnspecifiedMatching +DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS:C0311284 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref EFO:0004207 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref ICD10CM:H44.2 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref ICD9CM:360.21 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref MESH:D047728 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref NCI:C157149 semapv:UnspecifiedMatching -DOID:11829 degenerative myopia oboInOwl:hasDbXref UMLS_CUI:C0154778 semapv:UnspecifiedMatching +DOID:11829 degenerative myopia oboInOwl:hasDbXref UMLS:C0154778 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref EFO:0003927 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref ICD10CM:H52.1 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref ICD9CM:367.1 semapv:UnspecifiedMatching @@ -19989,121 +20303,121 @@ DOID:11830 myopia oboInOwl:hasDbXref OMIM:614167 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:615420 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:615431 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:615946 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref UMLS_CUI:C0027092 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref UMLS:C0027092 semapv:UnspecifiedMatching DOID:11830 myopia skos:exactMatch MESH:D009216 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref ICD10CM:H47.61 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref ICD9CM:377.75 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref MESH:D019575 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref NCI:C118707 semapv:UnspecifiedMatching -DOID:11831 cortical blindness oboInOwl:hasDbXref UMLS_CUI:C0155320 semapv:UnspecifiedMatching +DOID:11831 cortical blindness oboInOwl:hasDbXref UMLS:C0155320 semapv:UnspecifiedMatching DOID:11832 visual epilepsy oboInOwl:hasDbXref MESH:D012640 semapv:UnspecifiedMatching DOID:11832 visual epilepsy oboInOwl:hasDbXref NCI:C3980 semapv:UnspecifiedMatching -DOID:11832 visual epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270824 semapv:UnspecifiedMatching +DOID:11832 visual epilepsy oboInOwl:hasDbXref UMLS:C0270824 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref ICD10CM:Q66.89 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref ICD9CM:754.51 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref MESH:D003025 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref NCI:C84641 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching -DOID:11836 clubfoot oboInOwl:hasDbXref UMLS_CUI:C0009081 semapv:UnspecifiedMatching +DOID:11836 clubfoot oboInOwl:hasDbXref UMLS:C0009081 semapv:UnspecifiedMatching DOID:11836 clubfoot skos:exactMatch OMIM:119800 semapv:UnspecifiedMatching DOID:11838 penis sarcoma oboInOwl:hasDbXref NCI:C7730 semapv:UnspecifiedMatching -DOID:11838 penis sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238352 semapv:UnspecifiedMatching +DOID:11838 penis sarcoma oboInOwl:hasDbXref UMLS:C0238352 semapv:UnspecifiedMatching DOID:11839 glans penis cancer oboInOwl:hasDbXref ICD10CM:C60.1 semapv:UnspecifiedMatching DOID:11839 glans penis cancer oboInOwl:hasDbXref ICD9CM:187.2 semapv:UnspecifiedMatching -DOID:11839 glans penis cancer oboInOwl:hasDbXref UMLS_CUI:C0153599 semapv:UnspecifiedMatching +DOID:11839 glans penis cancer oboInOwl:hasDbXref UMLS:C0153599 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref ICD10CM:N04 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref ICD9CM:581 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref MESH:D009404 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref NCI:C34845 semapv:UnspecifiedMatching -DOID:1184 nephrotic syndrome oboInOwl:hasDbXref UMLS_CUI:C0027726 semapv:UnspecifiedMatching +DOID:1184 nephrotic syndrome oboInOwl:hasDbXref UMLS:C0027726 semapv:UnspecifiedMatching DOID:11840 coronary artery vasospasm oboInOwl:hasDbXref MESH:D003329 semapv:UnspecifiedMatching DOID:11840 coronary artery vasospasm oboInOwl:hasDbXref NCI:C34515 semapv:UnspecifiedMatching -DOID:11840 coronary artery vasospasm oboInOwl:hasDbXref UMLS_CUI:C0010073 semapv:UnspecifiedMatching +DOID:11840 coronary artery vasospasm oboInOwl:hasDbXref UMLS:C0010073 semapv:UnspecifiedMatching DOID:11843 coronary artery anomaly oboInOwl:hasDbXref GARD:1534 semapv:UnspecifiedMatching DOID:11843 coronary artery anomaly oboInOwl:hasDbXref ICD9CM:746.85 semapv:UnspecifiedMatching -DOID:11843 coronary artery anomaly oboInOwl:hasDbXref UMLS_CUI:C0158623 semapv:UnspecifiedMatching +DOID:11843 coronary artery anomaly oboInOwl:hasDbXref UMLS:C0158623 semapv:UnspecifiedMatching DOID:11847 coronary thrombosis oboInOwl:hasDbXref ICD10CM:I22 semapv:UnspecifiedMatching DOID:11847 coronary thrombosis oboInOwl:hasDbXref MESH:D003328 semapv:UnspecifiedMatching -DOID:11847 coronary thrombosis oboInOwl:hasDbXref UMLS_CUI:C0010072 semapv:UnspecifiedMatching +DOID:11847 coronary thrombosis oboInOwl:hasDbXref UMLS:C0010072 semapv:UnspecifiedMatching DOID:11850 transient refractive change oboInOwl:hasDbXref ICD9CM:367.81 semapv:UnspecifiedMatching -DOID:11850 transient refractive change oboInOwl:hasDbXref UMLS_CUI:C0155000 semapv:UnspecifiedMatching +DOID:11850 transient refractive change oboInOwl:hasDbXref UMLS:C0155000 semapv:UnspecifiedMatching DOID:11851 indeterminate leprosy oboInOwl:hasDbXref ICD10CM:A30.0 semapv:UnspecifiedMatching DOID:11851 indeterminate leprosy oboInOwl:hasDbXref ICD9CM:030.2 semapv:UnspecifiedMatching -DOID:11851 indeterminate leprosy oboInOwl:hasDbXref UMLS_CUI:C0021192 semapv:UnspecifiedMatching +DOID:11851 indeterminate leprosy oboInOwl:hasDbXref UMLS:C0021192 semapv:UnspecifiedMatching DOID:11853 monocular exotropia oboInOwl:hasDbXref ICD10CM:H50.11 semapv:UnspecifiedMatching DOID:11853 monocular exotropia oboInOwl:hasDbXref ICD9CM:378.11 semapv:UnspecifiedMatching DOID:11853 monocular exotropia oboInOwl:hasDbXref MESH:D005099 semapv:UnspecifiedMatching -DOID:11853 monocular exotropia oboInOwl:hasDbXref UMLS_CUI:C0152206 semapv:UnspecifiedMatching +DOID:11853 monocular exotropia oboInOwl:hasDbXref UMLS:C0152206 semapv:UnspecifiedMatching DOID:11864 peripheral focal chorioretinitis oboInOwl:hasDbXref ICD9CM:363.04 semapv:UnspecifiedMatching -DOID:11864 peripheral focal chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0339394 semapv:UnspecifiedMatching +DOID:11864 peripheral focal chorioretinitis oboInOwl:hasDbXref UMLS:C0339394 semapv:UnspecifiedMatching DOID:1187 tibial neuropathy oboInOwl:hasDbXref MESH:D020429 semapv:UnspecifiedMatching -DOID:1187 tibial neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751932 semapv:UnspecifiedMatching +DOID:1187 tibial neuropathy oboInOwl:hasDbXref UMLS:C0751932 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref GARD:7392 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref ICD10CM:G31.01 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref ICD9CM:331.11 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref MESH:D020774 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref NCI:C85008 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching -DOID:11870 Pick's disease oboInOwl:hasDbXref UMLS_CUI:C0236642 semapv:UnspecifiedMatching +DOID:11870 Pick's disease oboInOwl:hasDbXref UMLS:C0236642 semapv:UnspecifiedMatching DOID:11870 Pick's disease skos:exactMatch MESH:D020774 semapv:UnspecifiedMatching DOID:11870 Pick's disease skos:exactMatch OMIM:172700 semapv:UnspecifiedMatching DOID:11871 macular keratitis oboInOwl:hasDbXref ICD10CM:H16.11 semapv:UnspecifiedMatching DOID:11871 macular keratitis oboInOwl:hasDbXref ICD9CM:370.22 semapv:UnspecifiedMatching -DOID:11871 macular keratitis oboInOwl:hasDbXref UMLS_CUI:C0155076 semapv:UnspecifiedMatching +DOID:11871 macular keratitis oboInOwl:hasDbXref UMLS:C0155076 semapv:UnspecifiedMatching DOID:11874 abnormal threshold of rods oboInOwl:hasDbXref ICD10CM:H53.61 semapv:UnspecifiedMatching DOID:11874 abnormal threshold of rods oboInOwl:hasDbXref ICD9CM:368.63 semapv:UnspecifiedMatching -DOID:11874 abnormal threshold of rods oboInOwl:hasDbXref UMLS_CUI:C0155019 semapv:UnspecifiedMatching +DOID:11874 abnormal threshold of rods oboInOwl:hasDbXref UMLS:C0155019 semapv:UnspecifiedMatching DOID:11875 denture stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:11875 denture stomatitis oboInOwl:hasDbXref MESH:D013282 semapv:UnspecifiedMatching -DOID:11875 denture stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038364 semapv:UnspecifiedMatching +DOID:11875 denture stomatitis oboInOwl:hasDbXref UMLS:C0038364 semapv:UnspecifiedMatching DOID:1188 mononeuropathy oboInOwl:hasDbXref ICD10CM:G58.9 semapv:UnspecifiedMatching DOID:1188 mononeuropathy oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching -DOID:1188 mononeuropathy oboInOwl:hasDbXref UMLS_CUI:C0494491 semapv:UnspecifiedMatching +DOID:1188 mononeuropathy oboInOwl:hasDbXref UMLS:C0494491 semapv:UnspecifiedMatching DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref MESH:D014516 semapv:UnspecifiedMatching DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref NCI:C3427 semapv:UnspecifiedMatching -DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041955 semapv:UnspecifiedMatching +DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref UMLS:C0041955 semapv:UnspecifiedMatching DOID:11887 ureter leiomyoma oboInOwl:hasDbXref NCI:C6161 semapv:UnspecifiedMatching -DOID:11887 ureter leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336875 semapv:UnspecifiedMatching +DOID:11887 ureter leiomyoma oboInOwl:hasDbXref UMLS:C1336875 semapv:UnspecifiedMatching DOID:11888 schwannoma of ureter oboInOwl:hasDbXref NCI:C6162 semapv:UnspecifiedMatching -DOID:11888 schwannoma of ureter oboInOwl:hasDbXref UMLS_CUI:C1336877 semapv:UnspecifiedMatching +DOID:11888 schwannoma of ureter oboInOwl:hasDbXref UMLS:C1336877 semapv:UnspecifiedMatching DOID:11889 female breast nipple and areola cancer oboInOwl:hasDbXref ICD9CM:174.0 semapv:UnspecifiedMatching -DOID:11889 female breast nipple and areola cancer oboInOwl:hasDbXref UMLS_CUI:C0024621 semapv:UnspecifiedMatching +DOID:11889 female breast nipple and areola cancer oboInOwl:hasDbXref UMLS:C0024621 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref GARD:9348 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref ICD10CM:C52 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref ICD9CM:184.0 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref MESH:D014625 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref NCI:C3437 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref NCI:C7410 semapv:UnspecifiedMatching -DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS_CUI:C0042237 semapv:UnspecifiedMatching -DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS_CUI:C0042258 semapv:UnspecifiedMatching +DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS:C0042237 semapv:UnspecifiedMatching +DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS:C0042258 semapv:UnspecifiedMatching DOID:11905 labium majus cancer oboInOwl:hasDbXref ICD10CM:C51.0 semapv:UnspecifiedMatching DOID:11905 labium majus cancer oboInOwl:hasDbXref ICD9CM:184.1 semapv:UnspecifiedMatching DOID:11905 labium majus cancer oboInOwl:hasDbXref NCI:C7638 semapv:UnspecifiedMatching -DOID:11905 labium majus cancer oboInOwl:hasDbXref UMLS_CUI:C0496814 semapv:UnspecifiedMatching +DOID:11905 labium majus cancer oboInOwl:hasDbXref UMLS:C0496814 semapv:UnspecifiedMatching DOID:11907 ecthyma oboInOwl:hasDbXref MESH:D004473 semapv:UnspecifiedMatching -DOID:11907 ecthyma oboInOwl:hasDbXref UMLS_CUI:C0013568 semapv:UnspecifiedMatching +DOID:11907 ecthyma oboInOwl:hasDbXref UMLS:C0013568 semapv:UnspecifiedMatching DOID:11914 gastroparesis oboInOwl:hasDbXref ICD10CM:K31.84 semapv:UnspecifiedMatching DOID:11914 gastroparesis oboInOwl:hasDbXref ICD9CM:536.3 semapv:UnspecifiedMatching DOID:11914 gastroparesis oboInOwl:hasDbXref MESH:D018589 semapv:UnspecifiedMatching DOID:11914 gastroparesis oboInOwl:hasDbXref NCI:C80512 semapv:UnspecifiedMatching -DOID:11914 gastroparesis oboInOwl:hasDbXref UMLS_CUI:C0152020 semapv:UnspecifiedMatching +DOID:11914 gastroparesis oboInOwl:hasDbXref UMLS:C0152020 semapv:UnspecifiedMatching DOID:11917 tinea cruris oboInOwl:hasDbXref ICD9CM:110.3 semapv:UnspecifiedMatching DOID:11917 tinea cruris oboInOwl:hasDbXref NCI:C34535 semapv:UnspecifiedMatching -DOID:11917 tinea cruris oboInOwl:hasDbXref UMLS_CUI:C0011638 semapv:UnspecifiedMatching +DOID:11917 tinea cruris oboInOwl:hasDbXref UMLS:C0011638 semapv:UnspecifiedMatching DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref MESH:D010524 semapv:UnspecifiedMatching DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref NCI:C3321 semapv:UnspecifiedMatching DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref NCI:C4972 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C0031118 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C0206727 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS:C0031118 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS:C0206727 semapv:UnspecifiedMatching DOID:11920 tracheal cancer oboInOwl:hasDbXref ICD10CM:C33 semapv:UnspecifiedMatching DOID:11920 tracheal cancer oboInOwl:hasDbXref ICD9CM:162.0 semapv:UnspecifiedMatching DOID:11920 tracheal cancer oboInOwl:hasDbXref NCI:C9346 semapv:UnspecifiedMatching -DOID:11920 tracheal cancer oboInOwl:hasDbXref UMLS_CUI:C0153489 semapv:UnspecifiedMatching +DOID:11920 tracheal cancer oboInOwl:hasDbXref UMLS:C0153489 semapv:UnspecifiedMatching DOID:11934 head and neck cancer oboInOwl:hasDbXref GARD:12425 semapv:UnspecifiedMatching DOID:11934 head and neck cancer oboInOwl:hasDbXref MESH:D006258 semapv:UnspecifiedMatching DOID:11934 head and neck cancer oboInOwl:hasDbXref NCI:C3077 semapv:UnspecifiedMatching -DOID:11934 head and neck cancer oboInOwl:hasDbXref UMLS_CUI:C0018671 semapv:UnspecifiedMatching +DOID:11934 head and neck cancer oboInOwl:hasDbXref UMLS:C0018671 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref EFO:0004226 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref GARD:6956 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10CM:A81.0 semapv:UnspecifiedMatching @@ -20111,37 +20425,37 @@ DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD9CM:046.1 semapv:Unsp DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D007562 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref NCI:C26802 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS_CUI:C0022336 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0022336 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease skos:exactMatch OMIM:123400 semapv:UnspecifiedMatching DOID:1195 ischemic neuropathy oboInOwl:hasDbXref NCI:C27025 semapv:UnspecifiedMatching -DOID:1195 ischemic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0238309 semapv:UnspecifiedMatching +DOID:1195 ischemic neuropathy oboInOwl:hasDbXref UMLS:C0238309 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref ICD10CM:K20 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref ICD9CM:530.1 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref MESH:D004941 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref NCI:C9224 semapv:UnspecifiedMatching -DOID:11963 esophagitis oboInOwl:hasDbXref UMLS_CUI:C0014868 semapv:UnspecifiedMatching +DOID:11963 esophagitis oboInOwl:hasDbXref UMLS:C0014868 semapv:UnspecifiedMatching DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref ICD10CM:N95.2 semapv:UnspecifiedMatching DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref ICD9CM:627.3 semapv:UnspecifiedMatching -DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref UMLS_CUI:C0156409 semapv:UnspecifiedMatching +DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref UMLS:C0156409 semapv:UnspecifiedMatching DOID:11971 synostosis oboInOwl:hasDbXref MESH:D013580 semapv:UnspecifiedMatching -DOID:11971 synostosis oboInOwl:hasDbXref UMLS_CUI:C0039093 semapv:UnspecifiedMatching +DOID:11971 synostosis oboInOwl:hasDbXref UMLS:C0039093 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref GARD:13354 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref GARD:8502 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD10CM:Q14.2 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD9CM:377.23 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref MESH:C535970 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref UMLS_CUI:C0155299 semapv:UnspecifiedMatching +DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref UMLS:C0155299 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve skos:exactMatch OMIM:120430 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref GARD:943 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref ICD10CM:A05.1 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref NCI:C84599 semapv:UnspecifiedMatching -DOID:11976 botulism oboInOwl:hasDbXref UMLS_CUI:C0006057 semapv:UnspecifiedMatching +DOID:11976 botulism oboInOwl:hasDbXref UMLS:C0006057 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref ICD9CM:278.01 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref MESH:D009767 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref NCI:C34858 semapv:UnspecifiedMatching -DOID:11981 morbid obesity oboInOwl:hasDbXref UMLS_CUI:C0028756 semapv:UnspecifiedMatching +DOID:11981 morbid obesity oboInOwl:hasDbXref UMLS:C0028756 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref GARD:5575 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ICD10CM:Q87.11 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ICD9CM:759.81 semapv:UnspecifiedMatching @@ -20149,157 +20463,157 @@ DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:Unspecif DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref NCI:C75463 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ORDO:739 semapv:UnspecifiedMatching -DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref UMLS_CUI:C0032897 semapv:UnspecifiedMatching +DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref UMLS:C0032897 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome skos:exactMatch OMIM:176270 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.1 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref KEGG:05410 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D002312 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C34449 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching -DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007194 semapv:UnspecifiedMatching +DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C0007194 semapv:UnspecifiedMatching DOID:11988 conjunctival concretion oboInOwl:hasDbXref ICD10CM:H11.12 semapv:UnspecifiedMatching DOID:11988 conjunctival concretion oboInOwl:hasDbXref ICD9CM:372.54 semapv:UnspecifiedMatching -DOID:11988 conjunctival concretion oboInOwl:hasDbXref UMLS_CUI:C0155162 semapv:UnspecifiedMatching +DOID:11988 conjunctival concretion oboInOwl:hasDbXref UMLS:C0155162 semapv:UnspecifiedMatching DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref ICD10CM:A21.0 semapv:UnspecifiedMatching DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref ICD9CM:021.0 semapv:UnspecifiedMatching -DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref UMLS_CUI:C0152941 semapv:UnspecifiedMatching +DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref UMLS:C0152941 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref GARD:4158 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref ICD10CM:Q78.8 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref ICD9CM:756.53 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref MESH:D010023 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref NCI:C84985 semapv:UnspecifiedMatching -DOID:11991 osteopoikilosis oboInOwl:hasDbXref UMLS_CUI:C0029455 semapv:UnspecifiedMatching +DOID:11991 osteopoikilosis oboInOwl:hasDbXref UMLS:C0029455 semapv:UnspecifiedMatching DOID:11994 atrophy of testis oboInOwl:hasDbXref ICD10CM:N50.0 semapv:UnspecifiedMatching DOID:11994 atrophy of testis oboInOwl:hasDbXref ICD9CM:608.3 semapv:UnspecifiedMatching DOID:11994 atrophy of testis oboInOwl:hasDbXref NCI:C123259 semapv:UnspecifiedMatching -DOID:11994 atrophy of testis oboInOwl:hasDbXref UMLS_CUI:C0156312 semapv:UnspecifiedMatching +DOID:11994 atrophy of testis oboInOwl:hasDbXref UMLS:C0156312 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref ICD10CM:N44.02 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref ICD9CM:608.2 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref MESH:D013086 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref NCI:C26885 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref OMIM:187400 semapv:UnspecifiedMatching -DOID:11996 spermatic cord torsion oboInOwl:hasDbXref UMLS_CUI:C0037856 semapv:UnspecifiedMatching +DOID:11996 spermatic cord torsion oboInOwl:hasDbXref UMLS:C0037856 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion skos:exactMatch OMIM:187400 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref ICD10CM:N43.4 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref ICD9CM:608.1 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref MESH:D013088 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref NCI:C120909 semapv:UnspecifiedMatching -DOID:11997 spermatocele oboInOwl:hasDbXref UMLS_CUI:C0037859 semapv:UnspecifiedMatching +DOID:11997 spermatocele oboInOwl:hasDbXref UMLS:C0037859 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C57 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref ICD9CM:184 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref MESH:D005833 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref NCI:C3053 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref NCI:C4913 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0017416 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0153585 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0699889 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS:C0017416 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS:C0153585 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS:C0699889 semapv:UnspecifiedMatching DOID:12001 tracheal lymphoma oboInOwl:hasDbXref NCI:C6248 semapv:UnspecifiedMatching -DOID:12001 tracheal lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336773 semapv:UnspecifiedMatching +DOID:12001 tracheal lymphoma oboInOwl:hasDbXref UMLS:C1336773 semapv:UnspecifiedMatching DOID:12002 trachea sarcoma oboInOwl:hasDbXref NCI:C6050 semapv:UnspecifiedMatching -DOID:12002 trachea sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336774 semapv:UnspecifiedMatching +DOID:12002 trachea sarcoma oboInOwl:hasDbXref UMLS:C1336774 semapv:UnspecifiedMatching DOID:12003 trachea squamous cell carcinoma oboInOwl:hasDbXref NCI:C4448 semapv:UnspecifiedMatching -DOID:12003 trachea squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345946 semapv:UnspecifiedMatching +DOID:12003 trachea squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0345946 semapv:UnspecifiedMatching DOID:1201 trigeminal nerve neoplasm oboInOwl:hasDbXref NCI:C5122 semapv:UnspecifiedMatching -DOID:1201 trigeminal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263897 semapv:UnspecifiedMatching +DOID:1201 trigeminal nerve neoplasm oboInOwl:hasDbXref UMLS:C1263897 semapv:UnspecifiedMatching DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref GARD:9790 semapv:UnspecifiedMatching DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.01 semapv:UnspecifiedMatching DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD9CM:377.41 semapv:UnspecifiedMatching DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref MESH:D018917 semapv:UnspecifiedMatching -DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155305 semapv:UnspecifiedMatching +DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref UMLS:C0155305 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.1 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.1 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref NCI:C5572 semapv:UnspecifiedMatching -DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153635 semapv:UnspecifiedMatching -DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263886 semapv:UnspecifiedMatching +DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref UMLS:C0153635 semapv:UnspecifiedMatching +DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref UMLS:C1263886 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref GARD:7456 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref ICD10CM:E26.01 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref ICD9CM:255.12 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref MESH:D006929 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref NCI:C34510 semapv:UnspecifiedMatching -DOID:12028 Conn's syndrome oboInOwl:hasDbXref UMLS_CUI:C1384514 semapv:UnspecifiedMatching +DOID:12028 Conn's syndrome oboInOwl:hasDbXref UMLS:C1384514 semapv:UnspecifiedMatching DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref ICD10CM:H44.13 semapv:UnspecifiedMatching DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref ICD9CM:360.11 semapv:UnspecifiedMatching DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 semapv:UnspecifiedMatching -DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref UMLS_CUI:C0029077 semapv:UnspecifiedMatching +DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref UMLS:C0029077 semapv:UnspecifiedMatching DOID:1203 drug-induced mental disorder oboInOwl:hasDbXref ICD9CM:292.8 semapv:UnspecifiedMatching -DOID:1203 drug-induced mental disorder oboInOwl:hasDbXref UMLS_CUI:C0154325 semapv:UnspecifiedMatching +DOID:1203 drug-induced mental disorder oboInOwl:hasDbXref UMLS:C0154325 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref GARD:8577 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref ICD10CM:H44.11 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref ICD9CM:360.12 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref MESH:D015864 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref NCI:C84989 semapv:UnspecifiedMatching -DOID:12030 panuveitis oboInOwl:hasDbXref UMLS_CUI:C0030343 semapv:UnspecifiedMatching +DOID:12030 panuveitis oboInOwl:hasDbXref UMLS:C0030343 semapv:UnspecifiedMatching DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref ICD10CM:P57.0 semapv:UnspecifiedMatching DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref ICD9CM:773.4 semapv:UnspecifiedMatching DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref NCI:C101270 semapv:UnspecifiedMatching -DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref UMLS_CUI:C0270204 semapv:UnspecifiedMatching +DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref UMLS:C0270204 semapv:UnspecifiedMatching DOID:1205 allergic disease oboInOwl:hasDbXref ICD10CM:T78.40 semapv:UnspecifiedMatching DOID:1205 allergic disease oboInOwl:hasDbXref MESH:D006967 semapv:UnspecifiedMatching DOID:1205 allergic disease oboInOwl:hasDbXref NCI:C3114 semapv:UnspecifiedMatching -DOID:1205 allergic disease oboInOwl:hasDbXref UMLS_CUI:C0020517 semapv:UnspecifiedMatching +DOID:1205 allergic disease oboInOwl:hasDbXref UMLS:C0020517 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref GARD:6218 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref ICD10CM:B45 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref ICD9CM:117.5 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref MESH:D003453 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref NCI:C2967 semapv:UnspecifiedMatching -DOID:12053 cryptococcosis oboInOwl:hasDbXref UMLS_CUI:C0010414 semapv:UnspecifiedMatching +DOID:12053 cryptococcosis oboInOwl:hasDbXref UMLS:C0010414 semapv:UnspecifiedMatching DOID:12053 cryptococcosis skos:exactMatch MESH:D003453 semapv:UnspecifiedMatching DOID:12055 sarcoid meningitis oboInOwl:hasDbXref ICD10CM:D86.81 semapv:UnspecifiedMatching DOID:12055 sarcoid meningitis oboInOwl:hasDbXref ICD9CM:321.4 semapv:UnspecifiedMatching -DOID:12055 sarcoid meningitis oboInOwl:hasDbXref UMLS_CUI:C0154648 semapv:UnspecifiedMatching +DOID:12055 sarcoid meningitis oboInOwl:hasDbXref UMLS:C0154648 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref GARD:5696 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref ICD10CM:F84.2 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref NCI:C75488 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref UMLS_CUI:C0035372 semapv:UnspecifiedMatching +DOID:1206 Rett syndrome oboInOwl:hasDbXref UMLS:C0035372 semapv:UnspecifiedMatching DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref NCI:C6631 semapv:UnspecifiedMatching -DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1334674 semapv:UnspecifiedMatching +DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref UMLS:C1334674 semapv:UnspecifiedMatching DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref GARD:10930 semapv:UnspecifiedMatching DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref ICD10CM:K31.82 semapv:UnspecifiedMatching DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref ICD9CM:537.84 semapv:UnspecifiedMatching -DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref UMLS_CUI:C1135229 semapv:UnspecifiedMatching +DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref UMLS:C1135229 semapv:UnspecifiedMatching DOID:12072 pylorospasm oboInOwl:hasDbXref ICD9CM:537.81 semapv:UnspecifiedMatching -DOID:12072 pylorospasm oboInOwl:hasDbXref UMLS_CUI:C0152163 semapv:UnspecifiedMatching +DOID:12072 pylorospasm oboInOwl:hasDbXref UMLS:C0152163 semapv:UnspecifiedMatching DOID:12084 transient arthropathy oboInOwl:hasDbXref ICD9CM:716.41 semapv:UnspecifiedMatching -DOID:12084 transient arthropathy oboInOwl:hasDbXref UMLS_CUI:C0158007 semapv:UnspecifiedMatching +DOID:12084 transient arthropathy oboInOwl:hasDbXref UMLS:C0158007 semapv:UnspecifiedMatching DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref ICD10CM:H16.44 semapv:UnspecifiedMatching DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref ICD9CM:370.63 semapv:UnspecifiedMatching -DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref UMLS_CUI:C0155095 semapv:UnspecifiedMatching +DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref UMLS:C0155095 semapv:UnspecifiedMatching DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref ICD10CM:H46.2 semapv:UnspecifiedMatching DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref ICD9CM:377.33 semapv:UnspecifiedMatching -DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155302 semapv:UnspecifiedMatching +DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref UMLS:C0155302 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref ICD10CM:A25.0 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref ICD9CM:026.0 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref MESH:D011906 semapv:UnspecifiedMatching -DOID:12096 sodoku disease oboInOwl:hasDbXref UMLS_CUI:C0152062 semapv:UnspecifiedMatching +DOID:12096 sodoku disease oboInOwl:hasDbXref UMLS:C0152062 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref GARD:7805 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD10CM:G50.0 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD9CM:350.1 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching -DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref UMLS_CUI:C0040997 semapv:UnspecifiedMatching +DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref UMLS:C0040997 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia skos:exactMatch OMIM:190400 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref MESH:D014623 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref NCI:C26910 semapv:UnspecifiedMatching -DOID:121 vaginal disease oboInOwl:hasDbXref UMLS_CUI:C0042251 semapv:UnspecifiedMatching +DOID:121 vaginal disease oboInOwl:hasDbXref UMLS:C0042251 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref GARD:7320 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref ICD10CM:H46 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref ICD9CM:377.3 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref MESH:D009902 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref NCI:C84950 semapv:UnspecifiedMatching -DOID:1210 optic neuritis oboInOwl:hasDbXref UMLS_CUI:C0029134 semapv:UnspecifiedMatching +DOID:1210 optic neuritis oboInOwl:hasDbXref UMLS:C0029134 semapv:UnspecifiedMatching DOID:12105 inflammatory spondylopathy oboInOwl:hasDbXref ICD9CM:720.81 semapv:UnspecifiedMatching -DOID:12105 inflammatory spondylopathy oboInOwl:hasDbXref UMLS_CUI:C0021396 semapv:UnspecifiedMatching +DOID:12105 inflammatory spondylopathy oboInOwl:hasDbXref UMLS:C0021396 semapv:UnspecifiedMatching DOID:12108 bullous retinoschisis oboInOwl:hasDbXref ICD9CM:361.12 semapv:UnspecifiedMatching -DOID:12108 bullous retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0344289 semapv:UnspecifiedMatching +DOID:12108 bullous retinoschisis oboInOwl:hasDbXref UMLS:C0344289 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref GARD:11894 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10CM:J84.02 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD9CM:516.2 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref MESH:C562405 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 semapv:UnspecifiedMatching -DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS_CUI:C0155912 semapv:UnspecifiedMatching +DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C0155912 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis skos:exactMatch OMIM:265100 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD10CM:J84.03 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD9CM:516.1 semapv:UnspecifiedMatching @@ -20307,10 +20621,10 @@ DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 semapv:Unspec DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ORDO:99931 semapv:UnspecifiedMatching -DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref UMLS_CUI:C0020807 semapv:UnspecifiedMatching +DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C0020807 semapv:UnspecifiedMatching DOID:12119 hemosiderosis oboInOwl:hasDbXref GARD:6595 semapv:UnspecifiedMatching DOID:12119 hemosiderosis oboInOwl:hasDbXref MESH:D006486 semapv:UnspecifiedMatching -DOID:12119 hemosiderosis oboInOwl:hasDbXref UMLS_CUI:C0019114 semapv:UnspecifiedMatching +DOID:12119 hemosiderosis oboInOwl:hasDbXref UMLS:C0019114 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10CM:J84.01 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD9CM:516.0 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref MESH:D011649 semapv:UnspecifiedMatching @@ -20321,30 +20635,30 @@ DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610913 semapv: DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ORDO:264675 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS_CUI:C0034050 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C0034050 semapv:UnspecifiedMatching DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref ICD10CM:J84.10 semapv:UnspecifiedMatching DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref ICD9CM:515 semapv:UnspecifiedMatching -DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0175999 semapv:UnspecifiedMatching +DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref UMLS:C0175999 semapv:UnspecifiedMatching DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref ICD10CM:H15.11 semapv:UnspecifiedMatching DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref ICD9CM:379.01 semapv:UnspecifiedMatching -DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref UMLS_CUI:C0155351 semapv:UnspecifiedMatching +DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref UMLS:C0155351 semapv:UnspecifiedMatching DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.23 semapv:UnspecifiedMatching DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.35 semapv:UnspecifiedMatching -DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155084 semapv:UnspecifiedMatching +DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0155084 semapv:UnspecifiedMatching DOID:12128 pica disease oboInOwl:hasDbXref ICD9CM:307.52 semapv:UnspecifiedMatching DOID:12128 pica disease oboInOwl:hasDbXref MESH:D010842 semapv:UnspecifiedMatching DOID:12128 pica disease oboInOwl:hasDbXref NCI:C92566 semapv:UnspecifiedMatching -DOID:12128 pica disease oboInOwl:hasDbXref UMLS_CUI:C0031873 semapv:UnspecifiedMatching +DOID:12128 pica disease oboInOwl:hasDbXref UMLS:C0031873 semapv:UnspecifiedMatching DOID:12129 bulimia nervosa oboInOwl:hasDbXref ICD10CM:F50.2 semapv:UnspecifiedMatching DOID:12129 bulimia nervosa oboInOwl:hasDbXref MESH:D002032 semapv:UnspecifiedMatching -DOID:12129 bulimia nervosa oboInOwl:hasDbXref UMLS_CUI:C0006370 semapv:UnspecifiedMatching +DOID:12129 bulimia nervosa oboInOwl:hasDbXref UMLS:C0006370 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref GARD:7880 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10CM:M31.3 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD9CM:446.4 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref NCI:C3444 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS_CUI:C3495801 semapv:UnspecifiedMatching +DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C3495801 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis skos:exactMatch OMIM:608710 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref GARD:6591 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD10CM:D66 semapv:UnspecifiedMatching @@ -20353,92 +20667,92 @@ DOID:12134 factor VIII deficiency oboInOwl:hasDbXref MESH:D006467 semapv:Unspeci DOID:12134 factor VIII deficiency oboInOwl:hasDbXref NCI:C27146 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ORDO:98878 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref UMLS_CUI:C0019069 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref UMLS:C0019069 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency skos:exactMatch MESH:D006467 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency skos:exactMatch OMIM:306700 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD9CM:300.4 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref MESH:D019263 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref NCI:C34562 semapv:UnspecifiedMatching -DOID:12139 dysthymic disorder oboInOwl:hasDbXref UMLS_CUI:C0013415 semapv:UnspecifiedMatching +DOID:12139 dysthymic disorder oboInOwl:hasDbXref UMLS:C0013415 semapv:UnspecifiedMatching DOID:1214 tympanosclerosis oboInOwl:hasDbXref ICD9CM:385.09 semapv:UnspecifiedMatching -DOID:1214 tympanosclerosis oboInOwl:hasDbXref UMLS_CUI:C0155477 semapv:UnspecifiedMatching +DOID:1214 tympanosclerosis oboInOwl:hasDbXref UMLS:C0155477 semapv:UnspecifiedMatching DOID:12140 Chagas disease oboInOwl:hasDbXref GARD:6030 semapv:UnspecifiedMatching DOID:12140 Chagas disease oboInOwl:hasDbXref ICD9CM:086.2 semapv:UnspecifiedMatching DOID:12140 Chagas disease oboInOwl:hasDbXref KEGG:05142 semapv:UnspecifiedMatching -DOID:12140 Chagas disease oboInOwl:hasDbXref UMLS_CUI:C0007932 semapv:UnspecifiedMatching +DOID:12140 Chagas disease oboInOwl:hasDbXref UMLS:C0007932 semapv:UnspecifiedMatching DOID:12143 neurogenic bladder oboInOwl:hasDbXref ICD9CM:596.54 semapv:UnspecifiedMatching DOID:12143 neurogenic bladder oboInOwl:hasDbXref MESH:D001750 semapv:UnspecifiedMatching DOID:12143 neurogenic bladder oboInOwl:hasDbXref NCI:C79696 semapv:UnspecifiedMatching -DOID:12143 neurogenic bladder oboInOwl:hasDbXref UMLS_CUI:C0005697 semapv:UnspecifiedMatching +DOID:12143 neurogenic bladder oboInOwl:hasDbXref UMLS:C0005697 semapv:UnspecifiedMatching DOID:12144 low compliance bladder oboInOwl:hasDbXref ICD9CM:596.52 semapv:UnspecifiedMatching -DOID:12144 low compliance bladder oboInOwl:hasDbXref UMLS_CUI:C0489967 semapv:UnspecifiedMatching +DOID:12144 low compliance bladder oboInOwl:hasDbXref UMLS:C0489967 semapv:UnspecifiedMatching DOID:12145 detrusor sphincter dyssynergia oboInOwl:hasDbXref ICD9CM:596.55 semapv:UnspecifiedMatching -DOID:12145 detrusor sphincter dyssynergia oboInOwl:hasDbXref UMLS_CUI:C0341747 semapv:UnspecifiedMatching +DOID:12145 detrusor sphincter dyssynergia oboInOwl:hasDbXref UMLS:C0341747 semapv:UnspecifiedMatching DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref GARD:207 semapv:UnspecifiedMatching DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref ICD10CM:B67.7 semapv:UnspecifiedMatching DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref ICD9CM:122.7 semapv:UnspecifiedMatching DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref MESH:C536591 semapv:UnspecifiedMatching -DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0152069 semapv:UnspecifiedMatching +DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref UMLS:C0152069 semapv:UnspecifiedMatching DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref ICD10CM:A87.2 semapv:UnspecifiedMatching DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref MESH:D008216 semapv:UnspecifiedMatching DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref NCI:C174114 semapv:UnspecifiedMatching -DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref UMLS_CUI:C0024266 semapv:UnspecifiedMatching +DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref UMLS:C0024266 semapv:UnspecifiedMatching DOID:12156 arachnoiditis oboInOwl:hasDbXref GARD:5839 semapv:UnspecifiedMatching DOID:12156 arachnoiditis oboInOwl:hasDbXref ICD10CM:G03 semapv:UnspecifiedMatching DOID:12156 arachnoiditis oboInOwl:hasDbXref MESH:D001100 semapv:UnspecifiedMatching DOID:12156 arachnoiditis oboInOwl:hasDbXref NCI:C37913 semapv:UnspecifiedMatching -DOID:12156 arachnoiditis oboInOwl:hasDbXref UMLS_CUI:C0003708 semapv:UnspecifiedMatching +DOID:12156 arachnoiditis oboInOwl:hasDbXref UMLS:C0003708 semapv:UnspecifiedMatching DOID:12157 aseptic meningitis oboInOwl:hasDbXref ICD10CM:G03.0 semapv:UnspecifiedMatching DOID:12157 aseptic meningitis oboInOwl:hasDbXref MESH:D008582 semapv:UnspecifiedMatching DOID:12157 aseptic meningitis oboInOwl:hasDbXref NCI:C118299 semapv:UnspecifiedMatching -DOID:12157 aseptic meningitis oboInOwl:hasDbXref UMLS_CUI:C0025290 semapv:UnspecifiedMatching +DOID:12157 aseptic meningitis oboInOwl:hasDbXref UMLS:C0025290 semapv:UnspecifiedMatching DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref ICD10CM:H35.4 semapv:UnspecifiedMatching DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref ICD9CM:362.6 semapv:UnspecifiedMatching DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref NCI:C34919 semapv:UnspecifiedMatching -DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C1320640 semapv:UnspecifiedMatching +DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref UMLS:C1320640 semapv:UnspecifiedMatching DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.45 semapv:UnspecifiedMatching DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref ICD9CM:362.65 semapv:UnspecifiedMatching -DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0154858 semapv:UnspecifiedMatching +DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref UMLS:C0154858 semapv:UnspecifiedMatching DOID:12163 senile reticular retinal degeneration oboInOwl:hasDbXref ICD9CM:362.64 semapv:UnspecifiedMatching -DOID:12163 senile reticular retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154857 semapv:UnspecifiedMatching +DOID:12163 senile reticular retinal degeneration oboInOwl:hasDbXref UMLS:C0154857 semapv:UnspecifiedMatching DOID:12164 Blessig's cysts oboInOwl:hasDbXref ICD10CM:H35.42 semapv:UnspecifiedMatching DOID:12164 Blessig's cysts oboInOwl:hasDbXref ICD9CM:362.62 semapv:UnspecifiedMatching -DOID:12164 Blessig's cysts oboInOwl:hasDbXref UMLS_CUI:C0154855 semapv:UnspecifiedMatching +DOID:12164 Blessig's cysts oboInOwl:hasDbXref UMLS:C0154855 semapv:UnspecifiedMatching DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref ICD10CM:H35.41 semapv:UnspecifiedMatching DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref ICD9CM:362.63 semapv:UnspecifiedMatching -DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref UMLS_CUI:C0154856 semapv:UnspecifiedMatching +DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref UMLS:C0154856 semapv:UnspecifiedMatching DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref ICD10CM:H35.43 semapv:UnspecifiedMatching DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref ICD9CM:362.61 semapv:UnspecifiedMatching -DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154854 semapv:UnspecifiedMatching +DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref UMLS:C0154854 semapv:UnspecifiedMatching DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref ICD10CM:H35.46 semapv:UnspecifiedMatching DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref ICD9CM:362.66 semapv:UnspecifiedMatching -DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154859 semapv:UnspecifiedMatching +DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C0154859 semapv:UnspecifiedMatching DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref ICD10CM:G56.2 semapv:UnspecifiedMatching DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref ICD9CM:354.2 semapv:UnspecifiedMatching -DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref UMLS_CUI:C1288279 semapv:UnspecifiedMatching +DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref UMLS:C1288279 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref ICD10CM:G56.0 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref ICD9CM:354.0 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref MESH:D002349 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref NCI:C34450 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref OMIMPS:115430 semapv:UnspecifiedMatching -DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref UMLS_CUI:C0007286 semapv:UnspecifiedMatching +DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref UMLS:C0007286 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome skos:exactMatch OMIMPS:115430 semapv:UnspecifiedMatching DOID:1217 fascioloidiasis oboInOwl:hasDbXref MESH:D005213 semapv:UnspecifiedMatching -DOID:1217 fascioloidiasis oboInOwl:hasDbXref UMLS_CUI:C0015655 semapv:UnspecifiedMatching +DOID:1217 fascioloidiasis oboInOwl:hasDbXref UMLS:C0015655 semapv:UnspecifiedMatching DOID:12170 radial nerve lesion oboInOwl:hasDbXref ICD10CM:G56.3 semapv:UnspecifiedMatching DOID:12170 radial nerve lesion oboInOwl:hasDbXref ICD9CM:354.3 semapv:UnspecifiedMatching -DOID:12170 radial nerve lesion oboInOwl:hasDbXref UMLS_CUI:C0154744 semapv:UnspecifiedMatching +DOID:12170 radial nerve lesion oboInOwl:hasDbXref UMLS:C0154744 semapv:UnspecifiedMatching DOID:12171 radial neuropathy oboInOwl:hasDbXref MESH:D020425 semapv:UnspecifiedMatching -DOID:12171 radial neuropathy oboInOwl:hasDbXref UMLS_CUI:C0748226 semapv:UnspecifiedMatching +DOID:12171 radial neuropathy oboInOwl:hasDbXref UMLS:C0748226 semapv:UnspecifiedMatching DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref ICD10CM:E07.1 semapv:UnspecifiedMatching DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref ICD9CM:246.1 semapv:UnspecifiedMatching -DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref UMLS_CUI:C0152077 semapv:UnspecifiedMatching +DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref UMLS:C0152077 semapv:UnspecifiedMatching DOID:12176 goiter oboInOwl:hasDbXref ICD10CM:E04.9 semapv:UnspecifiedMatching DOID:12176 goiter oboInOwl:hasDbXref ICD9CM:240.9 semapv:UnspecifiedMatching DOID:12176 goiter oboInOwl:hasDbXref MESH:D006042 semapv:UnspecifiedMatching DOID:12176 goiter oboInOwl:hasDbXref NCI:C26785 semapv:UnspecifiedMatching -DOID:12176 goiter oboInOwl:hasDbXref UMLS_CUI:C0018021 semapv:UnspecifiedMatching +DOID:12176 goiter oboInOwl:hasDbXref UMLS:C0018021 semapv:UnspecifiedMatching DOID:12176 goiter skos:exactMatch MESH:D006042 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref GARD:6140 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD10CM:D83 semapv:UnspecifiedMatching @@ -20446,84 +20760,78 @@ DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD9CM:279.06 sem DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref MESH:D017074 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref OMIMPS:607594 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ORDO:1572 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref UMLS_CUI:C0009447 semapv:UnspecifiedMatching +DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref UMLS:C0009447 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency skos:exactMatch OMIMPS:607594 semapv:UnspecifiedMatching DOID:12179 tinea corporis oboInOwl:hasDbXref ICD9CM:110.5 semapv:UnspecifiedMatching -DOID:12179 tinea corporis oboInOwl:hasDbXref UMLS_CUI:C0546826 semapv:UnspecifiedMatching +DOID:12179 tinea corporis oboInOwl:hasDbXref UMLS:C0546826 semapv:UnspecifiedMatching DOID:1218 echinostomiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching DOID:1218 echinostomiasis oboInOwl:hasDbXref MESH:D004451 semapv:UnspecifiedMatching -DOID:1218 echinostomiasis oboInOwl:hasDbXref UMLS_CUI:C0013514 semapv:UnspecifiedMatching +DOID:1218 echinostomiasis oboInOwl:hasDbXref UMLS:C0013514 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref EFO:0004213 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ICD10CM:H80.80 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ICD9CM:387.8 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:166800 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:605727 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:608244 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:608484 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:611571 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:611572 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:612096 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:615589 semapv:UnspecifiedMatching +DOID:12185 otosclerosis oboInOwl:hasDbXref OMIMPS:166800 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ORDO:2794 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref UMLS_CUI:C0029696 semapv:UnspecifiedMatching +DOID:12185 otosclerosis oboInOwl:hasDbXref UMLS:C0029696 semapv:UnspecifiedMatching DOID:12185 otosclerosis skos:exactMatch MESH:D010040 semapv:UnspecifiedMatching +DOID:12185 otosclerosis skos:exactMatch OMIMPS:166800 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref ICD10CM:B66.2 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref MESH:D004011 semapv:UnspecifiedMatching -DOID:1219 dicrocoeliasis oboInOwl:hasDbXref UMLS_CUI:C0012102 semapv:UnspecifiedMatching +DOID:1219 dicrocoeliasis oboInOwl:hasDbXref UMLS:C0012102 semapv:UnspecifiedMatching DOID:12190 descending colon cancer oboInOwl:hasDbXref ICD10CM:C18.6 semapv:UnspecifiedMatching DOID:12190 descending colon cancer oboInOwl:hasDbXref ICD9CM:153.2 semapv:UnspecifiedMatching -DOID:12190 descending colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153435 semapv:UnspecifiedMatching +DOID:12190 descending colon cancer oboInOwl:hasDbXref UMLS:C0153435 semapv:UnspecifiedMatching DOID:12191 splenic flexure cancer oboInOwl:hasDbXref ICD10CM:C18.5 semapv:UnspecifiedMatching DOID:12191 splenic flexure cancer oboInOwl:hasDbXref ICD9CM:153.7 semapv:UnspecifiedMatching -DOID:12191 splenic flexure cancer oboInOwl:hasDbXref UMLS_CUI:C0153440 semapv:UnspecifiedMatching +DOID:12191 splenic flexure cancer oboInOwl:hasDbXref UMLS:C0153440 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref ICD10CM:C18.7 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref ICD9CM:153.3 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref MESH:D012811 semapv:UnspecifiedMatching -DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153436 semapv:UnspecifiedMatching +DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref UMLS:C0153436 semapv:UnspecifiedMatching DOID:12196 superficial keratitis oboInOwl:hasDbXref ICD10CM:H16.10 semapv:UnspecifiedMatching DOID:12196 superficial keratitis oboInOwl:hasDbXref ICD9CM:370.20 semapv:UnspecifiedMatching -DOID:12196 superficial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155074 semapv:UnspecifiedMatching +DOID:12196 superficial keratitis oboInOwl:hasDbXref UMLS:C0155074 semapv:UnspecifiedMatching DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.14 semapv:UnspecifiedMatching DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.21 semapv:UnspecifiedMatching -DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0259799 semapv:UnspecifiedMatching +DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0259799 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref GARD:6254 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref ICD10CM:A90 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref ICD9CM:061 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref MESH:D003715 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref NCI:C34528 semapv:UnspecifiedMatching -DOID:12205 dengue disease oboInOwl:hasDbXref UMLS_CUI:C0011311 semapv:UnspecifiedMatching +DOID:12205 dengue disease oboInOwl:hasDbXref UMLS:C0011311 semapv:UnspecifiedMatching DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A91 semapv:UnspecifiedMatching DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref MESH:D019595 semapv:UnspecifiedMatching DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref NCI:C34683 semapv:UnspecifiedMatching -DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0019100 semapv:UnspecifiedMatching +DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019100 semapv:UnspecifiedMatching DOID:12211 filarial elephantiasis oboInOwl:hasDbXref MESH:D004605 semapv:UnspecifiedMatching DOID:12211 filarial elephantiasis oboInOwl:hasDbXref NCI:C128360 semapv:UnspecifiedMatching -DOID:12211 filarial elephantiasis oboInOwl:hasDbXref UMLS_CUI:C0013884 semapv:UnspecifiedMatching +DOID:12211 filarial elephantiasis oboInOwl:hasDbXref UMLS:C0013884 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref ICD10CM:O41.0 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref ICD9CM:658.0 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref MESH:D016104 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref NCI:C92839 semapv:UnspecifiedMatching -DOID:12215 oligohydramnios oboInOwl:hasDbXref UMLS_CUI:C0079924 semapv:UnspecifiedMatching +DOID:12215 oligohydramnios oboInOwl:hasDbXref UMLS:C0079924 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref GARD:3243 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD10CM:G31.83 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD9CM:331.82 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref MESH:D020961 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref NCI:C84826 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref OMIM:127750 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref UMLS_CUI:C0752347 semapv:UnspecifiedMatching +DOID:12217 Lewy body dementia oboInOwl:hasDbXref UMLS:C0752347 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia skos:exactMatch OMIM:127750 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref ICD10CM:M94.9 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref MESH:D002357 semapv:UnspecifiedMatching -DOID:1222 cartilage disease oboInOwl:hasDbXref UMLS_CUI:C0007302 semapv:UnspecifiedMatching +DOID:1222 cartilage disease oboInOwl:hasDbXref UMLS:C0007302 semapv:UnspecifiedMatching DOID:12223 specific bursitis often of occupational origin oboInOwl:hasDbXref ICD9CM:727.2 semapv:UnspecifiedMatching -DOID:12223 specific bursitis often of occupational origin oboInOwl:hasDbXref UMLS_CUI:C0158332 semapv:UnspecifiedMatching +DOID:12223 specific bursitis often of occupational origin oboInOwl:hasDbXref UMLS:C0158332 semapv:UnspecifiedMatching DOID:12225 Plica syndrome oboInOwl:hasDbXref ICD10CM:M67.5 semapv:UnspecifiedMatching DOID:12225 Plica syndrome oboInOwl:hasDbXref ICD9CM:727.83 semapv:UnspecifiedMatching DOID:12225 Plica syndrome oboInOwl:hasDbXref MESH:D013585 semapv:UnspecifiedMatching -DOID:12225 Plica syndrome oboInOwl:hasDbXref UMLS_CUI:C0878705 semapv:UnspecifiedMatching +DOID:12225 Plica syndrome oboInOwl:hasDbXref UMLS:C0878705 semapv:UnspecifiedMatching DOID:12234 cascade stomach oboInOwl:hasDbXref ICD10CM:K31.2 semapv:UnspecifiedMatching DOID:12234 cascade stomach oboInOwl:hasDbXref ICD9CM:537.6 semapv:UnspecifiedMatching -DOID:12234 cascade stomach oboInOwl:hasDbXref UMLS_CUI:C0267183 semapv:UnspecifiedMatching +DOID:12234 cascade stomach oboInOwl:hasDbXref UMLS:C0267183 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref EFO:0004267 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref GARD:7459 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD10CM:K74.3 semapv:UnspecifiedMatching @@ -20534,14 +20842,14 @@ DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C27167 semapv:Unsp DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C51225 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref OMIMPS:109720 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ORDO:186 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008312 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS_CUI:C0023892 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0008312 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0023892 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis skos:exactMatch OMIMPS:109720 semapv:UnspecifiedMatching DOID:12237 bile reflux oboInOwl:hasDbXref MESH:D001655 semapv:UnspecifiedMatching -DOID:12237 bile reflux oboInOwl:hasDbXref UMLS_CUI:C0005403 semapv:UnspecifiedMatching +DOID:12237 bile reflux oboInOwl:hasDbXref UMLS:C0005403 semapv:UnspecifiedMatching DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref ICD10CM:C44.520 semapv:UnspecifiedMatching DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref NCI:C6925 semapv:UnspecifiedMatching -DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412037 semapv:UnspecifiedMatching +DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1412037 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref GARD:871 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD10CM:D56.1 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD9CM:282.44 semapv:UnspecifiedMatching @@ -20549,31 +20857,31 @@ DOID:12241 beta thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMa DOID:12241 beta thalassemia oboInOwl:hasDbXref NCI:C34375 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref ORDO:848 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia oboInOwl:hasDbXref UMLS_CUI:C0005283 semapv:UnspecifiedMatching +DOID:12241 beta thalassemia oboInOwl:hasDbXref UMLS:C0005283 semapv:UnspecifiedMatching DOID:12241 beta thalassemia skos:exactMatch OMIM:613985 semapv:UnspecifiedMatching DOID:12241 beta thalassemia skos:narrowMatch MESH:D017086 semapv:UnspecifiedMatching DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref ICD9CM:115.91 semapv:UnspecifiedMatching -DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref UMLS_CUI:C0153277 semapv:UnspecifiedMatching +DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref UMLS:C0153277 semapv:UnspecifiedMatching DOID:12253 testicular lymphoma oboInOwl:hasDbXref NCI:C6810 semapv:UnspecifiedMatching -DOID:12253 testicular lymphoma oboInOwl:hasDbXref UMLS_CUI:C0349644 semapv:UnspecifiedMatching +DOID:12253 testicular lymphoma oboInOwl:hasDbXref UMLS:C0349644 semapv:UnspecifiedMatching DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref ICD10CM:E27.5 semapv:UnspecifiedMatching DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref ICD9CM:255.6 semapv:UnspecifiedMatching -DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref UMLS_CUI:C0154206 semapv:UnspecifiedMatching +DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref UMLS:C0154206 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref GARD:8732 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref ICD10CM:D67 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref ICD9CM:286.1 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref MESH:D002836 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref NCI:C26721 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -DOID:12259 hemophilia B oboInOwl:hasDbXref UMLS_CUI:C0008533 semapv:UnspecifiedMatching +DOID:12259 hemophilia B oboInOwl:hasDbXref UMLS:C0008533 semapv:UnspecifiedMatching DOID:12259 hemophilia B skos:exactMatch OMIM:306900 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70.1 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.1 semapv:UnspecifiedMatching -DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref UMLS_CUI:C0156328 semapv:UnspecifiedMatching +DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref UMLS:C0156328 semapv:UnspecifiedMatching DOID:1227 neutropenia oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching DOID:1227 neutropenia oboInOwl:hasDbXref ICD9CM:288.0 semapv:UnspecifiedMatching DOID:1227 neutropenia oboInOwl:hasDbXref MESH:D009503 semapv:UnspecifiedMatching -DOID:1227 neutropenia oboInOwl:hasDbXref UMLS_CUI:C0027947 semapv:UnspecifiedMatching +DOID:1227 neutropenia oboInOwl:hasDbXref UMLS:C0027947 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref GARD:1433 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ICD10CM:Q13.0 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref MESH:D003103 semapv:UnspecifiedMatching @@ -20583,63 +20891,63 @@ DOID:12270 coloboma oboInOwl:hasDbXref OMIM:120300 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref OMIM:216820 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ORDO:194 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ORDO:98945 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref UMLS_CUI:C0009363 semapv:UnspecifiedMatching +DOID:12270 coloboma oboInOwl:hasDbXref UMLS:C0009363 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref GARD:5816 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref ICD10CM:Q13.1 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref ICD9CM:743.45 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref MESH:D015783 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref NCI:C84563 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref UMLS_CUI:C0003076 semapv:UnspecifiedMatching +DOID:12271 aniridia oboInOwl:hasDbXref UMLS:C0003076 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch OMIM:106210 semapv:UnspecifiedMatching DOID:12273 anisometropia oboInOwl:hasDbXref ICD10CM:H52.31 semapv:UnspecifiedMatching DOID:12273 anisometropia oboInOwl:hasDbXref ICD9CM:367.31 semapv:UnspecifiedMatching DOID:12273 anisometropia oboInOwl:hasDbXref MESH:D015858 semapv:UnspecifiedMatching -DOID:12273 anisometropia oboInOwl:hasDbXref UMLS_CUI:C0003081 semapv:UnspecifiedMatching +DOID:12273 anisometropia oboInOwl:hasDbXref UMLS:C0003081 semapv:UnspecifiedMatching DOID:12273 anisometropia skos:exactMatch MESH:D015858 semapv:UnspecifiedMatching DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref ICD10CM:A36.3 semapv:UnspecifiedMatching DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref ICD9CM:032.85 semapv:UnspecifiedMatching DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref NCI:C34544 semapv:UnspecifiedMatching -DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref UMLS_CUI:C0012555 semapv:UnspecifiedMatching +DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref UMLS:C0012555 semapv:UnspecifiedMatching DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref ICD10CM:C62.0 semapv:UnspecifiedMatching DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref ICD9CM:186.0 semapv:UnspecifiedMatching -DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref UMLS_CUI:C0153595 semapv:UnspecifiedMatching +DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref UMLS:C0153595 semapv:UnspecifiedMatching DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref ICD10CM:I80.1 semapv:UnspecifiedMatching DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.11 semapv:UnspecifiedMatching -DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0265066 semapv:UnspecifiedMatching +DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref UMLS:C0265066 semapv:UnspecifiedMatching DOID:12286 testicular leukemia oboInOwl:hasDbXref NCI:C9277 semapv:UnspecifiedMatching -DOID:12286 testicular leukemia oboInOwl:hasDbXref UMLS_CUI:C1336711 semapv:UnspecifiedMatching +DOID:12286 testicular leukemia oboInOwl:hasDbXref UMLS:C1336711 semapv:UnspecifiedMatching DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.0 semapv:UnspecifiedMatching DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD9CM:065.0 semapv:UnspecifiedMatching DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref MESH:D006479 semapv:UnspecifiedMatching DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref NCI:C34682 semapv:UnspecifiedMatching -DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0019099 semapv:UnspecifiedMatching +DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019099 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref ICD10CM:F20.0 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref ICD9CM:295.3 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref ICD9CM:295.32 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref MESH:D012563 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref NCI:C35006 semapv:UnspecifiedMatching -DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0036349 semapv:UnspecifiedMatching -DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0270398 semapv:UnspecifiedMatching +DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref UMLS:C0036349 semapv:UnspecifiedMatching +DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref UMLS:C0270398 semapv:UnspecifiedMatching DOID:12294 atypical depressive disorder oboInOwl:hasDbXref ICD10CM:F32.89 semapv:UnspecifiedMatching DOID:12294 atypical depressive disorder oboInOwl:hasDbXref ICD9CM:296.82 semapv:UnspecifiedMatching -DOID:12294 atypical depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0154437 semapv:UnspecifiedMatching +DOID:12294 atypical depressive disorder oboInOwl:hasDbXref UMLS:C0154437 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref GARD:7862 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10CM:H20.82 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD9CM:364.24 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref MESH:D014607 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref NCI:C85218 semapv:UnspecifiedMatching -DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS_CUI:C0042170 semapv:UnspecifiedMatching +DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS:C0042170 semapv:UnspecifiedMatching DOID:12298 intrahepatic gall duct cancer oboInOwl:hasDbXref ICD9CM:155.1 semapv:UnspecifiedMatching -DOID:12298 intrahepatic gall duct cancer oboInOwl:hasDbXref UMLS_CUI:C0546835 semapv:UnspecifiedMatching +DOID:12298 intrahepatic gall duct cancer oboInOwl:hasDbXref UMLS:C0546835 semapv:UnspecifiedMatching DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref ICD10CM:H11.13 semapv:UnspecifiedMatching DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref ICD9CM:372.55 semapv:UnspecifiedMatching -DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155163 semapv:UnspecifiedMatching +DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref UMLS:C0155163 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref ICD10CM:Q82.3 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref NCI:C84787 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref OMIM:308300 semapv:UnspecifiedMatching -DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref UMLS_CUI:C0021171 semapv:UnspecifiedMatching +DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref UMLS:C0021171 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome skos:exactMatch OMIM:308300 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref EFO:0004208 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref GARD:10751 semapv:UnspecifiedMatching @@ -20648,74 +20956,74 @@ DOID:12306 vitiligo oboInOwl:hasDbXref ICD9CM:709.01 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref MESH:D014820 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref NCI:C26915 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref OMIM:193200 semapv:UnspecifiedMatching -DOID:12306 vitiligo oboInOwl:hasDbXref UMLS_CUI:C0042900 semapv:UnspecifiedMatching +DOID:12306 vitiligo oboInOwl:hasDbXref UMLS:C0042900 semapv:UnspecifiedMatching DOID:12306 vitiligo skos:exactMatch OMIM:193200 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.01 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.11 semapv:UnspecifiedMatching -DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155104 semapv:UnspecifiedMatching +DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref UMLS:C0155104 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref GARD:6289 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10CM:E80.6 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref NCI:C34741 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS_CUI:C0022350 semapv:UnspecifiedMatching +DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS:C0022350 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome skos:exactMatch OMIM:237500 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref MESH:D014582 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref NCI:C3433 semapv:UnspecifiedMatching -DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0042111 semapv:UnspecifiedMatching +DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref UMLS:C0042111 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa skos:exactMatch MESH:D014582 semapv:UnspecifiedMatching DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.06 semapv:UnspecifiedMatching DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.12 semapv:UnspecifiedMatching -DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155105 semapv:UnspecifiedMatching +DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref UMLS:C0155105 semapv:UnspecifiedMatching DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.53 semapv:UnspecifiedMatching DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.53 semapv:UnspecifiedMatching DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref NCI:C34651 semapv:UnspecifiedMatching -DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0018179 semapv:UnspecifiedMatching +DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref UMLS:C0018179 semapv:UnspecifiedMatching DOID:12323 cough variant asthma oboInOwl:hasDbXref ICD10CM:J45.991 semapv:UnspecifiedMatching DOID:12323 cough variant asthma oboInOwl:hasDbXref ICD9CM:493.82 semapv:UnspecifiedMatching -DOID:12323 cough variant asthma oboInOwl:hasDbXref UMLS_CUI:C0694548 semapv:UnspecifiedMatching +DOID:12323 cough variant asthma oboInOwl:hasDbXref UMLS:C0694548 semapv:UnspecifiedMatching DOID:12325 kyphoscoliotic heart disease oboInOwl:hasDbXref ICD10CM:I27.1 semapv:UnspecifiedMatching DOID:12325 kyphoscoliotic heart disease oboInOwl:hasDbXref ICD9CM:416.1 semapv:UnspecifiedMatching -DOID:12325 kyphoscoliotic heart disease oboInOwl:hasDbXref UMLS_CUI:C0152102 semapv:UnspecifiedMatching +DOID:12325 kyphoscoliotic heart disease oboInOwl:hasDbXref UMLS:C0152102 semapv:UnspecifiedMatching DOID:12326 chronic pulmonary heart disease oboInOwl:hasDbXref ICD9CM:416.8 semapv:UnspecifiedMatching -DOID:12326 chronic pulmonary heart disease oboInOwl:hasDbXref UMLS_CUI:C0155673 semapv:UnspecifiedMatching +DOID:12326 chronic pulmonary heart disease oboInOwl:hasDbXref UMLS:C0155673 semapv:UnspecifiedMatching DOID:12328 marasmus oboInOwl:hasDbXref ICD10CM:E41 semapv:UnspecifiedMatching DOID:12328 marasmus oboInOwl:hasDbXref ICD9CM:261 semapv:UnspecifiedMatching DOID:12328 marasmus oboInOwl:hasDbXref MESH:D011502 semapv:UnspecifiedMatching -DOID:12328 marasmus oboInOwl:hasDbXref UMLS_CUI:C0086588 semapv:UnspecifiedMatching +DOID:12328 marasmus oboInOwl:hasDbXref UMLS:C0086588 semapv:UnspecifiedMatching DOID:1233 transvestism oboInOwl:hasDbXref ICD10CM:F64.1 semapv:UnspecifiedMatching DOID:1233 transvestism oboInOwl:hasDbXref ICD9CM:302.3 semapv:UnspecifiedMatching DOID:1233 transvestism oboInOwl:hasDbXref MESH:D014190 semapv:UnspecifiedMatching DOID:1233 transvestism oboInOwl:hasDbXref NCI:C94359 semapv:UnspecifiedMatching -DOID:1233 transvestism oboInOwl:hasDbXref UMLS_CUI:C0040774 semapv:UnspecifiedMatching +DOID:1233 transvestism oboInOwl:hasDbXref UMLS:C0040774 semapv:UnspecifiedMatching DOID:12332 hematocele of tunica vaginalis testis oboInOwl:hasDbXref MESH:D006398 semapv:UnspecifiedMatching -DOID:12332 hematocele of tunica vaginalis testis oboInOwl:hasDbXref UMLS_CUI:C0018931 semapv:UnspecifiedMatching +DOID:12332 hematocele of tunica vaginalis testis oboInOwl:hasDbXref UMLS:C0018931 semapv:UnspecifiedMatching DOID:12333 male genital organ stricture oboInOwl:hasDbXref ICD9CM:608.85 semapv:UnspecifiedMatching -DOID:12333 male genital organ stricture oboInOwl:hasDbXref UMLS_CUI:C0156316 semapv:UnspecifiedMatching +DOID:12333 male genital organ stricture oboInOwl:hasDbXref UMLS:C0156316 semapv:UnspecifiedMatching DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref ICD10CM:N50.1 semapv:UnspecifiedMatching DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref ICD9CM:608.83 semapv:UnspecifiedMatching -DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042374 semapv:UnspecifiedMatching +DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref UMLS:C0042374 semapv:UnspecifiedMatching DOID:12336 male infertility oboInOwl:hasDbXref ICD10CM:N46 semapv:UnspecifiedMatching DOID:12336 male infertility oboInOwl:hasDbXref ICD9CM:606 semapv:UnspecifiedMatching DOID:12336 male infertility oboInOwl:hasDbXref MESH:D007248 semapv:UnspecifiedMatching -DOID:12336 male infertility oboInOwl:hasDbXref UMLS_CUI:C0021364 semapv:UnspecifiedMatching +DOID:12336 male infertility oboInOwl:hasDbXref UMLS:C0021364 semapv:UnspecifiedMatching DOID:12337 varicocele oboInOwl:hasDbXref ICD10CM:I86.1 semapv:UnspecifiedMatching DOID:12337 varicocele oboInOwl:hasDbXref ICD9CM:456.4 semapv:UnspecifiedMatching DOID:12337 varicocele oboInOwl:hasDbXref MESH:D014646 semapv:UnspecifiedMatching -DOID:12337 varicocele oboInOwl:hasDbXref UMLS_CUI:C0042341 semapv:UnspecifiedMatching +DOID:12337 varicocele oboInOwl:hasDbXref UMLS:C0042341 semapv:UnspecifiedMatching DOID:12339 retroperitoneal lymphoma oboInOwl:hasDbXref NCI:C7353 semapv:UnspecifiedMatching -DOID:12339 retroperitoneal lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335779 semapv:UnspecifiedMatching +DOID:12339 retroperitoneal lymphoma oboInOwl:hasDbXref UMLS:C1335779 semapv:UnspecifiedMatching DOID:1234 gender incongruence oboInOwl:hasDbXref ICD10CM:F64.2 semapv:UnspecifiedMatching DOID:1234 gender incongruence oboInOwl:hasDbXref ICD9CM:302.50 semapv:UnspecifiedMatching DOID:1234 gender incongruence oboInOwl:hasDbXref ICD9CM:302.6 semapv:UnspecifiedMatching -DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS_CUI:C0040630 semapv:UnspecifiedMatching -DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS_CUI:C0236802 semapv:UnspecifiedMatching +DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS:C0040630 semapv:UnspecifiedMatching +DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS:C0236802 semapv:UnspecifiedMatching DOID:12341 retroperitoneal sarcoma oboInOwl:hasDbXref NCI:C4832 semapv:UnspecifiedMatching -DOID:12341 retroperitoneal sarcoma oboInOwl:hasDbXref UMLS_CUI:C0585129 semapv:UnspecifiedMatching +DOID:12341 retroperitoneal sarcoma oboInOwl:hasDbXref UMLS:C0585129 semapv:UnspecifiedMatching DOID:12342 retroperitoneum carcinoma oboInOwl:hasDbXref NCI:C7352 semapv:UnspecifiedMatching -DOID:12342 retroperitoneum carcinoma oboInOwl:hasDbXref UMLS_CUI:C0948749 semapv:UnspecifiedMatching +DOID:12342 retroperitoneum carcinoma oboInOwl:hasDbXref UMLS:C0948749 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref GARD:1017 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD9CM:756.51 semapv:UnspecifiedMatching @@ -20723,81 +21031,81 @@ DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 semapv:Unspec DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref NCI:C26837 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref OMIMPS:166200 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ORDO:666 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref UMLS_CUI:C0029434 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0029434 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta skos:exactMatch OMIMPS:166200 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref ICD10CM:H44.44 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref ICD9CM:360.31 semapv:UnspecifiedMatching -DOID:12349 primary eye hypotony oboInOwl:hasDbXref UMLS_CUI:C0154782 semapv:UnspecifiedMatching +DOID:12349 primary eye hypotony oboInOwl:hasDbXref UMLS:C0154782 semapv:UnspecifiedMatching DOID:1235 fetishism oboInOwl:hasDbXref ICD10CM:F65.0 semapv:UnspecifiedMatching DOID:1235 fetishism oboInOwl:hasDbXref ICD9CM:302.81 semapv:UnspecifiedMatching DOID:1235 fetishism oboInOwl:hasDbXref MESH:D005329 semapv:UnspecifiedMatching DOID:1235 fetishism oboInOwl:hasDbXref NCI:C94353 semapv:UnspecifiedMatching -DOID:1235 fetishism oboInOwl:hasDbXref UMLS_CUI:C0015957 semapv:UnspecifiedMatching +DOID:1235 fetishism oboInOwl:hasDbXref UMLS:C0015957 semapv:UnspecifiedMatching DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref ICD9CM:571.1 semapv:UnspecifiedMatching DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref NCI:C34352 semapv:UnspecifiedMatching -DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref UMLS_CUI:C0001306 semapv:UnspecifiedMatching +DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref UMLS:C0001306 semapv:UnspecifiedMatching DOID:12355 prostatocystitis oboInOwl:hasDbXref ICD10CM:N41.3 semapv:UnspecifiedMatching DOID:12355 prostatocystitis oboInOwl:hasDbXref ICD9CM:601.3 semapv:UnspecifiedMatching -DOID:12355 prostatocystitis oboInOwl:hasDbXref UMLS_CUI:C0156291 semapv:UnspecifiedMatching +DOID:12355 prostatocystitis oboInOwl:hasDbXref UMLS:C0156291 semapv:UnspecifiedMatching DOID:12357 viral labyrinthitis oboInOwl:hasDbXref ICD9CM:386.35 semapv:UnspecifiedMatching -DOID:12357 viral labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155508 semapv:UnspecifiedMatching +DOID:12357 viral labyrinthitis oboInOwl:hasDbXref UMLS:C0155508 semapv:UnspecifiedMatching DOID:12358 patulous eustachian tube oboInOwl:hasDbXref GARD:10812 semapv:UnspecifiedMatching DOID:12358 patulous eustachian tube oboInOwl:hasDbXref ICD10CM:H69.0 semapv:UnspecifiedMatching DOID:12358 patulous eustachian tube oboInOwl:hasDbXref ICD9CM:381.7 semapv:UnspecifiedMatching -DOID:12358 patulous eustachian tube oboInOwl:hasDbXref UMLS_CUI:C0155434 semapv:UnspecifiedMatching +DOID:12358 patulous eustachian tube oboInOwl:hasDbXref UMLS:C0155434 semapv:UnspecifiedMatching DOID:12359 endocrine exophthalmos oboInOwl:hasDbXref ICD9CM:376.2 semapv:UnspecifiedMatching -DOID:12359 endocrine exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155264 semapv:UnspecifiedMatching +DOID:12359 endocrine exophthalmos oboInOwl:hasDbXref UMLS:C0155264 semapv:UnspecifiedMatching DOID:12360 lateral displacement of eye oboInOwl:hasDbXref ICD10CM:H05.21 semapv:UnspecifiedMatching DOID:12360 lateral displacement of eye oboInOwl:hasDbXref ICD9CM:376.36 semapv:UnspecifiedMatching -DOID:12360 lateral displacement of eye oboInOwl:hasDbXref UMLS_CUI:C0155272 semapv:UnspecifiedMatching +DOID:12360 lateral displacement of eye oboInOwl:hasDbXref UMLS:C0155272 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref EFO:0004237 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref ICD10CM:E05.0 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref MESH:D006111 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref NCI:C3071 semapv:UnspecifiedMatching -DOID:12361 Graves' disease oboInOwl:hasDbXref UMLS_CUI:C0018213 semapv:UnspecifiedMatching +DOID:12361 Graves' disease oboInOwl:hasDbXref UMLS:C0018213 semapv:UnspecifiedMatching DOID:12362 thyrotoxic exophthalmos oboInOwl:hasDbXref ICD9CM:376.21 semapv:UnspecifiedMatching -DOID:12362 thyrotoxic exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155265 semapv:UnspecifiedMatching +DOID:12362 thyrotoxic exophthalmos oboInOwl:hasDbXref UMLS:C0155265 semapv:UnspecifiedMatching DOID:12363 intermittent proptosis oboInOwl:hasDbXref ICD10CM:H05.25 semapv:UnspecifiedMatching DOID:12363 intermittent proptosis oboInOwl:hasDbXref ICD9CM:376.34 semapv:UnspecifiedMatching -DOID:12363 intermittent proptosis oboInOwl:hasDbXref UMLS_CUI:C0155270 semapv:UnspecifiedMatching +DOID:12363 intermittent proptosis oboInOwl:hasDbXref UMLS:C0155270 semapv:UnspecifiedMatching DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref ICD10CM:H05.26 semapv:UnspecifiedMatching DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref ICD9CM:376.35 semapv:UnspecifiedMatching -DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155271 semapv:UnspecifiedMatching +DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref UMLS:C0155271 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref EFO:0001068 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref GARD:6961 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref ICD10CM:B54 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref ICD9CM:084 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref MESH:D008288 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref NCI:C34797 semapv:UnspecifiedMatching -DOID:12365 malaria oboInOwl:hasDbXref UMLS_CUI:C0024530 semapv:UnspecifiedMatching +DOID:12365 malaria oboInOwl:hasDbXref UMLS:C0024530 semapv:UnspecifiedMatching DOID:12369 prolapse of urethra oboInOwl:hasDbXref ICD10CM:N81.0 semapv:UnspecifiedMatching DOID:12369 prolapse of urethra oboInOwl:hasDbXref ICD9CM:618.03 semapv:UnspecifiedMatching -DOID:12369 prolapse of urethra oboInOwl:hasDbXref UMLS_CUI:C0238502 semapv:UnspecifiedMatching +DOID:12369 prolapse of urethra oboInOwl:hasDbXref UMLS:C0238502 semapv:UnspecifiedMatching DOID:1237 corneal degeneration oboInOwl:hasDbXref ICD10CM:H18.4 semapv:UnspecifiedMatching DOID:1237 corneal degeneration oboInOwl:hasDbXref ICD9CM:371.4 semapv:UnspecifiedMatching -DOID:1237 corneal degeneration oboInOwl:hasDbXref UMLS_CUI:C0155118 semapv:UnspecifiedMatching +DOID:1237 corneal degeneration oboInOwl:hasDbXref UMLS:C0155118 semapv:UnspecifiedMatching DOID:12375 bronchopneumonia oboInOwl:hasDbXref ICD10CM:J18.0 semapv:UnspecifiedMatching DOID:12375 bronchopneumonia oboInOwl:hasDbXref ICD9CM:485 semapv:UnspecifiedMatching DOID:12375 bronchopneumonia oboInOwl:hasDbXref MESH:D001996 semapv:UnspecifiedMatching DOID:12375 bronchopneumonia oboInOwl:hasDbXref NCI:C26710 semapv:UnspecifiedMatching -DOID:12375 bronchopneumonia oboInOwl:hasDbXref UMLS_CUI:C0006285 semapv:UnspecifiedMatching +DOID:12375 bronchopneumonia oboInOwl:hasDbXref UMLS:C0006285 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref ICD9CM:335.11 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref NCI:C118847 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching -DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0152109 semapv:UnspecifiedMatching +DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0152109 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy skos:exactMatch OMIM:253400 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref GARD:7674 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.9 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref ICD9CM:335.1 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref MESH:D009134 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref NCI:C85075 semapv:UnspecifiedMatching -DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0026847 semapv:UnspecifiedMatching +DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0026847 semapv:UnspecifiedMatching DOID:12382 complex partial epilepsy oboInOwl:hasDbXref MESH:D017029 semapv:UnspecifiedMatching -DOID:12382 complex partial epilepsy oboInOwl:hasDbXref UMLS_CUI:C0085417 semapv:UnspecifiedMatching +DOID:12382 complex partial epilepsy oboInOwl:hasDbXref UMLS:C0085417 semapv:UnspecifiedMatching DOID:12384 dysentery oboInOwl:hasDbXref ICD9CM:009.2 semapv:UnspecifiedMatching DOID:12384 dysentery oboInOwl:hasDbXref MESH:D004403 semapv:UnspecifiedMatching -DOID:12384 dysentery oboInOwl:hasDbXref UMLS_CUI:C0013369 semapv:UnspecifiedMatching +DOID:12384 dysentery oboInOwl:hasDbXref UMLS:C0013369 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref GARD:4818 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD10CM:A03 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD10CM:A03.0 semapv:UnspecifiedMatching @@ -20810,16 +21118,16 @@ DOID:12385 shigellosis oboInOwl:hasDbXref ICD9CM:004.2 semapv:UnspecifiedMatchin DOID:12385 shigellosis oboInOwl:hasDbXref KEGG:05131 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref MESH:D004405 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref NCI:C157978 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0013371 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0302358 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0302359 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0302360 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref UMLS:C0013371 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref UMLS:C0302358 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref UMLS:C0302359 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref UMLS:C0302360 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref GARD:809 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref ICD10CM:A07.0 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref ICD9CM:007.0 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref MESH:D001447 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref NCI:C84583 semapv:UnspecifiedMatching -DOID:12386 balantidiasis oboInOwl:hasDbXref UMLS_CUI:C0004692 semapv:UnspecifiedMatching +DOID:12386 balantidiasis oboInOwl:hasDbXref UMLS:C0004692 semapv:UnspecifiedMatching DOID:12386 balantidiasis skos:exactMatch MESH:D001447 semapv:UnspecifiedMatching DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref GARD:7178 semapv:UnspecifiedMatching DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10CM:N25.1 semapv:UnspecifiedMatching @@ -20827,74 +21135,74 @@ DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD9CM:588.1 semapv DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref NCI:C84919 semapv:UnspecifiedMatching DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ORDO:223 semapv:UnspecifiedMatching -DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0162283 semapv:UnspecifiedMatching +DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref NCI:C84933 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching -DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0687720 semapv:UnspecifiedMatching +DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus skos:exactMatch OMIM:125700 semapv:UnspecifiedMatching DOID:12395 spastic entropion oboInOwl:hasDbXref ICD9CM:374.03 semapv:UnspecifiedMatching -DOID:12395 spastic entropion oboInOwl:hasDbXref UMLS_CUI:C0155190 semapv:UnspecifiedMatching +DOID:12395 spastic entropion oboInOwl:hasDbXref UMLS:C0155190 semapv:UnspecifiedMatching DOID:12397 entropion oboInOwl:hasDbXref ICD9CM:374.00 semapv:UnspecifiedMatching DOID:12397 entropion oboInOwl:hasDbXref MESH:D004774 semapv:UnspecifiedMatching -DOID:12397 entropion oboInOwl:hasDbXref UMLS_CUI:C0014390 semapv:UnspecifiedMatching +DOID:12397 entropion oboInOwl:hasDbXref UMLS:C0014390 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref ICD10CM:F63.0 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref ICD9CM:312.31 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref MESH:D005715 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref NCI:C94335 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref OMIM:606349 semapv:UnspecifiedMatching -DOID:12399 pathological gambling oboInOwl:hasDbXref UMLS_CUI:C0030662 semapv:UnspecifiedMatching +DOID:12399 pathological gambling oboInOwl:hasDbXref UMLS:C0030662 semapv:UnspecifiedMatching DOID:12399 pathological gambling skos:exactMatch OMIM:606349 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICD10CM:C95.90 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICD9CM:208 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICDO:9800/3 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref MESH:D007938 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref NCI:C3161 semapv:UnspecifiedMatching -DOID:1240 leukemia oboInOwl:hasDbXref UMLS_CUI:C0023418 semapv:UnspecifiedMatching +DOID:1240 leukemia oboInOwl:hasDbXref UMLS:C0023418 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref ICD10CM:F63.2 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref ICD9CM:312.32 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref NCI:C94333 semapv:UnspecifiedMatching -DOID:12400 kleptomania oboInOwl:hasDbXref UMLS_CUI:C0022734 semapv:UnspecifiedMatching +DOID:12400 kleptomania oboInOwl:hasDbXref UMLS:C0022734 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD10CM:F60.3 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD10CM:F63.81 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD9CM:301.3 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD9CM:312.34 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref NCI:C94332 semapv:UnspecifiedMatching -DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS_CUI:C0021776 semapv:UnspecifiedMatching -DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS_CUI:C0152183 semapv:UnspecifiedMatching +DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS:C0021776 semapv:UnspecifiedMatching +DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS:C0152183 semapv:UnspecifiedMatching DOID:12402 pyromania oboInOwl:hasDbXref ICD10CM:F63.1 semapv:UnspecifiedMatching DOID:12402 pyromania oboInOwl:hasDbXref ICD9CM:312.33 semapv:UnspecifiedMatching DOID:12402 pyromania oboInOwl:hasDbXref MESH:D005391 semapv:UnspecifiedMatching DOID:12402 pyromania oboInOwl:hasDbXref NCI:C94334 semapv:UnspecifiedMatching -DOID:12402 pyromania oboInOwl:hasDbXref UMLS_CUI:C0016142 semapv:UnspecifiedMatching +DOID:12402 pyromania oboInOwl:hasDbXref UMLS:C0016142 semapv:UnspecifiedMatching DOID:12403 tinea pedis oboInOwl:hasDbXref ICD10CM:B35.3 semapv:UnspecifiedMatching DOID:12403 tinea pedis oboInOwl:hasDbXref ICD9CM:110.4 semapv:UnspecifiedMatching DOID:12403 tinea pedis oboInOwl:hasDbXref MESH:D014008 semapv:UnspecifiedMatching -DOID:12403 tinea pedis oboInOwl:hasDbXref UMLS_CUI:C0040259 semapv:UnspecifiedMatching +DOID:12403 tinea pedis oboInOwl:hasDbXref UMLS:C0040259 semapv:UnspecifiedMatching DOID:1241 luxation of globe oboInOwl:hasDbXref ICD10CM:H44.82 semapv:UnspecifiedMatching DOID:1241 luxation of globe oboInOwl:hasDbXref ICD9CM:360.81 semapv:UnspecifiedMatching -DOID:1241 luxation of globe oboInOwl:hasDbXref UMLS_CUI:C0154806 semapv:UnspecifiedMatching +DOID:1241 luxation of globe oboInOwl:hasDbXref UMLS:C0154806 semapv:UnspecifiedMatching DOID:1242 globe disease oboInOwl:hasDbXref ICD10CM:H44.39 semapv:UnspecifiedMatching DOID:1242 globe disease oboInOwl:hasDbXref ICD9CM:360.29 semapv:UnspecifiedMatching -DOID:1242 globe disease oboInOwl:hasDbXref UMLS_CUI:C0154780 semapv:UnspecifiedMatching +DOID:1242 globe disease oboInOwl:hasDbXref UMLS:C0154780 semapv:UnspecifiedMatching DOID:12424 thyrocalcitonin secretion disease oboInOwl:hasDbXref ICD9CM:246.0 semapv:UnspecifiedMatching -DOID:12424 thyrocalcitonin secretion disease oboInOwl:hasDbXref UMLS_CUI:C0701822 semapv:UnspecifiedMatching +DOID:12424 thyrocalcitonin secretion disease oboInOwl:hasDbXref UMLS:C0701822 semapv:UnspecifiedMatching DOID:1243 labia minora cancer oboInOwl:hasDbXref ICD10CM:C51.1 semapv:UnspecifiedMatching DOID:1243 labia minora cancer oboInOwl:hasDbXref ICD9CM:184.2 semapv:UnspecifiedMatching DOID:1243 labia minora cancer oboInOwl:hasDbXref NCI:C7637 semapv:UnspecifiedMatching -DOID:1243 labia minora cancer oboInOwl:hasDbXref UMLS_CUI:C0496815 semapv:UnspecifiedMatching +DOID:1243 labia minora cancer oboInOwl:hasDbXref UMLS:C0496815 semapv:UnspecifiedMatching DOID:12445 conjugate gaze palsy oboInOwl:hasDbXref ICD9CM:378.81 semapv:UnspecifiedMatching -DOID:12445 conjugate gaze palsy oboInOwl:hasDbXref UMLS_CUI:C0702143 semapv:UnspecifiedMatching +DOID:12445 conjugate gaze palsy oboInOwl:hasDbXref UMLS:C0702143 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref GARD:5836 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref ICD10CM:D61.9 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref ICD9CM:284.9 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref MESH:D000741 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref NCI:C2870 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:UnspecifiedMatching -DOID:12449 aplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002874 semapv:UnspecifiedMatching +DOID:12449 aplastic anemia oboInOwl:hasDbXref UMLS:C0002874 semapv:UnspecifiedMatching DOID:12449 aplastic anemia skos:exactMatch OMIM:609135 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref GARD:9349 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref ICD10CM:C51 semapv:UnspecifiedMatching @@ -20902,115 +21210,115 @@ DOID:1245 vulva cancer oboInOwl:hasDbXref ICD9CM:184.4 semapv:UnspecifiedMatchin DOID:1245 vulva cancer oboInOwl:hasDbXref MESH:D014846 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref NCI:C3443 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref NCI:C7502 semapv:UnspecifiedMatching -DOID:1245 vulva cancer oboInOwl:hasDbXref UMLS_CUI:C0042995 semapv:UnspecifiedMatching -DOID:1245 vulva cancer oboInOwl:hasDbXref UMLS_CUI:C0375071 semapv:UnspecifiedMatching +DOID:1245 vulva cancer oboInOwl:hasDbXref UMLS:C0042995 semapv:UnspecifiedMatching +DOID:1245 vulva cancer oboInOwl:hasDbXref UMLS:C0375071 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref ICD10CM:D61.81 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref ICD9CM:284.1 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref MESH:D010198 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref NCI:C34889 semapv:UnspecifiedMatching -DOID:12450 pancytopenia oboInOwl:hasDbXref UMLS_CUI:C0030312 semapv:UnspecifiedMatching +DOID:12450 pancytopenia oboInOwl:hasDbXref UMLS:C0030312 semapv:UnspecifiedMatching DOID:12450 pancytopenia skos:exactMatch MESH:D010198 semapv:UnspecifiedMatching DOID:12451 sulfhemoglobinemia oboInOwl:hasDbXref MESH:D013436 semapv:UnspecifiedMatching -DOID:12451 sulfhemoglobinemia oboInOwl:hasDbXref UMLS_CUI:C0038732 semapv:UnspecifiedMatching +DOID:12451 sulfhemoglobinemia oboInOwl:hasDbXref UMLS:C0038732 semapv:UnspecifiedMatching DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref ICD10CM:N25.81 semapv:UnspecifiedMatching DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref ICD9CM:588.81 semapv:UnspecifiedMatching -DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref UMLS_CUI:C0271847 semapv:UnspecifiedMatching +DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref UMLS:C0271847 semapv:UnspecifiedMatching DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref MESH:D006962 semapv:UnspecifiedMatching DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref NCI:C113335 semapv:UnspecifiedMatching -DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020503 semapv:UnspecifiedMatching +DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref UMLS:C0020503 semapv:UnspecifiedMatching DOID:1247 blood coagulation disease oboInOwl:hasDbXref ICD10CM:D68.9 semapv:UnspecifiedMatching DOID:1247 blood coagulation disease oboInOwl:hasDbXref ICD9CM:286 semapv:UnspecifiedMatching DOID:1247 blood coagulation disease oboInOwl:hasDbXref MESH:D001778 semapv:UnspecifiedMatching DOID:1247 blood coagulation disease oboInOwl:hasDbXref NCI:C2902 semapv:UnspecifiedMatching -DOID:1247 blood coagulation disease oboInOwl:hasDbXref UMLS_CUI:C0005779 semapv:UnspecifiedMatching +DOID:1247 blood coagulation disease oboInOwl:hasDbXref UMLS:C0005779 semapv:UnspecifiedMatching DOID:12474 capillariasis oboInOwl:hasDbXref ICD10CM:B81.1 semapv:UnspecifiedMatching DOID:12474 capillariasis oboInOwl:hasDbXref ICD9CM:127.5 semapv:UnspecifiedMatching DOID:12474 capillariasis oboInOwl:hasDbXref MESH:D017189 semapv:UnspecifiedMatching -DOID:12474 capillariasis oboInOwl:hasDbXref UMLS_CUI:C0006897 semapv:UnspecifiedMatching +DOID:12474 capillariasis oboInOwl:hasDbXref UMLS:C0006897 semapv:UnspecifiedMatching DOID:12475 pes anserinus tendinitis or bursitis oboInOwl:hasDbXref ICD9CM:726.61 semapv:UnspecifiedMatching -DOID:12475 pes anserinus tendinitis or bursitis oboInOwl:hasDbXref UMLS_CUI:C0158314 semapv:UnspecifiedMatching -DOID:1248 ocular hyperemia oboInOwl:hasDbXref UMLS_CUI:C0155169 semapv:UnspecifiedMatching +DOID:12475 pes anserinus tendinitis or bursitis oboInOwl:hasDbXref UMLS:C0158314 semapv:UnspecifiedMatching +DOID:1248 ocular hyperemia oboInOwl:hasDbXref UMLS:C0155169 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref ICD10CM:G52.2 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref ICD9CM:352.3 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref MESH:D020421 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref NCI:C27591 semapv:UnspecifiedMatching -DOID:12491 Vagus nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152179 semapv:UnspecifiedMatching +DOID:12491 Vagus nerve disease oboInOwl:hasDbXref UMLS:C0152179 semapv:UnspecifiedMatching DOID:125 vagina leiomyoma oboInOwl:hasDbXref NCI:C6373 semapv:UnspecifiedMatching -DOID:125 vagina leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336939 semapv:UnspecifiedMatching +DOID:125 vagina leiomyoma oboInOwl:hasDbXref UMLS:C1336939 semapv:UnspecifiedMatching DOID:12506 Bell's palsy oboInOwl:hasDbXref GARD:5906 semapv:UnspecifiedMatching DOID:12506 Bell's palsy oboInOwl:hasDbXref ICD10CM:G51.0 semapv:UnspecifiedMatching DOID:12506 Bell's palsy oboInOwl:hasDbXref ICD9CM:351.0 semapv:UnspecifiedMatching DOID:12506 Bell's palsy oboInOwl:hasDbXref MESH:D020330 semapv:UnspecifiedMatching -DOID:12506 Bell's palsy oboInOwl:hasDbXref UMLS_CUI:C0376175 semapv:UnspecifiedMatching +DOID:12506 Bell's palsy oboInOwl:hasDbXref UMLS:C0376175 semapv:UnspecifiedMatching DOID:1251 tuberculous epididymitis oboInOwl:hasDbXref ICD9CM:016.4 semapv:UnspecifiedMatching -DOID:1251 tuberculous epididymitis oboInOwl:hasDbXref UMLS_CUI:C0152814 semapv:UnspecifiedMatching +DOID:1251 tuberculous epididymitis oboInOwl:hasDbXref UMLS:C0152814 semapv:UnspecifiedMatching DOID:12510 retinal ischemia oboInOwl:hasDbXref ICD10CM:H35.82 semapv:UnspecifiedMatching DOID:12510 retinal ischemia oboInOwl:hasDbXref ICD9CM:362.84 semapv:UnspecifiedMatching -DOID:12510 retinal ischemia oboInOwl:hasDbXref UMLS_CUI:C0162291 semapv:UnspecifiedMatching +DOID:12510 retinal ischemia oboInOwl:hasDbXref UMLS:C0162291 semapv:UnspecifiedMatching DOID:12514 retinal perforation oboInOwl:hasDbXref MESH:D012167 semapv:UnspecifiedMatching DOID:12514 retinal perforation oboInOwl:hasDbXref NCI:C50732 semapv:UnspecifiedMatching -DOID:12514 retinal perforation oboInOwl:hasDbXref UMLS_CUI:C0035321 semapv:UnspecifiedMatching +DOID:12514 retinal perforation oboInOwl:hasDbXref UMLS:C0035321 semapv:UnspecifiedMatching DOID:1252 trichuriasis oboInOwl:hasDbXref GARD:10720 semapv:UnspecifiedMatching DOID:1252 trichuriasis oboInOwl:hasDbXref MESH:D014257 semapv:UnspecifiedMatching DOID:1252 trichuriasis oboInOwl:hasDbXref NCI:C128399 semapv:UnspecifiedMatching -DOID:1252 trichuriasis oboInOwl:hasDbXref UMLS_CUI:C0040954 semapv:UnspecifiedMatching +DOID:1252 trichuriasis oboInOwl:hasDbXref UMLS:C0040954 semapv:UnspecifiedMatching DOID:12522 bagassosis oboInOwl:hasDbXref ICD10CM:J67.1 semapv:UnspecifiedMatching DOID:12522 bagassosis oboInOwl:hasDbXref ICD9CM:495.1 semapv:UnspecifiedMatching DOID:12522 bagassosis oboInOwl:hasDbXref MESH:D011009 semapv:UnspecifiedMatching DOID:12522 bagassosis oboInOwl:hasDbXref NCI:C34409 semapv:UnspecifiedMatching -DOID:12522 bagassosis oboInOwl:hasDbXref UMLS_CUI:C0004681 semapv:UnspecifiedMatching +DOID:12522 bagassosis oboInOwl:hasDbXref UMLS:C0004681 semapv:UnspecifiedMatching DOID:12524 plantar nerve lesion oboInOwl:hasDbXref ICD10CM:G57.6 semapv:UnspecifiedMatching DOID:12524 plantar nerve lesion oboInOwl:hasDbXref ICD9CM:355.6 semapv:UnspecifiedMatching -DOID:12524 plantar nerve lesion oboInOwl:hasDbXref UMLS_CUI:C0154752 semapv:UnspecifiedMatching +DOID:12524 plantar nerve lesion oboInOwl:hasDbXref UMLS:C0154752 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref GARD:7733 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref ICD10CM:G57.5 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref ICD9CM:355.5 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref MESH:D013641 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref NCI:C85183 semapv:UnspecifiedMatching -DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref UMLS_CUI:C0039319 semapv:UnspecifiedMatching +DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref UMLS:C0039319 semapv:UnspecifiedMatching DOID:12527 common peroneal nerve lesion oboInOwl:hasDbXref ICD10CM:G57.3 semapv:UnspecifiedMatching DOID:12527 common peroneal nerve lesion oboInOwl:hasDbXref ICD9CM:355.3 semapv:UnspecifiedMatching -DOID:12527 common peroneal nerve lesion oboInOwl:hasDbXref UMLS_CUI:C0270909 semapv:UnspecifiedMatching +DOID:12527 common peroneal nerve lesion oboInOwl:hasDbXref UMLS:C0270909 semapv:UnspecifiedMatching DOID:12528 lesion of sciatic nerve oboInOwl:hasDbXref ICD10CM:G57.0 semapv:UnspecifiedMatching DOID:12528 lesion of sciatic nerve oboInOwl:hasDbXref ICD9CM:355.0 semapv:UnspecifiedMatching DOID:12528 lesion of sciatic nerve oboInOwl:hasDbXref MESH:D020426 semapv:UnspecifiedMatching -DOID:12528 lesion of sciatic nerve oboInOwl:hasDbXref UMLS_CUI:C0154748 semapv:UnspecifiedMatching -DOID:12529 tibial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0154751 semapv:UnspecifiedMatching +DOID:12528 lesion of sciatic nerve oboInOwl:hasDbXref UMLS:C0154748 semapv:UnspecifiedMatching +DOID:12529 tibial nerve palsy oboInOwl:hasDbXref UMLS:C0154751 semapv:UnspecifiedMatching DOID:12531 von Willebrand's disease oboInOwl:hasDbXref GARD:7867 semapv:UnspecifiedMatching DOID:12531 von Willebrand's disease oboInOwl:hasDbXref ICD10CM:D68.0 semapv:UnspecifiedMatching DOID:12531 von Willebrand's disease oboInOwl:hasDbXref ICD9CM:286.4 semapv:UnspecifiedMatching DOID:12531 von Willebrand's disease oboInOwl:hasDbXref MESH:D014842 semapv:UnspecifiedMatching DOID:12531 von Willebrand's disease oboInOwl:hasDbXref NCI:C68677 semapv:UnspecifiedMatching -DOID:12531 von Willebrand's disease oboInOwl:hasDbXref UMLS_CUI:C0042974 semapv:UnspecifiedMatching +DOID:12531 von Willebrand's disease oboInOwl:hasDbXref UMLS:C0042974 semapv:UnspecifiedMatching DOID:12537 hypermobility of coccyx oboInOwl:hasDbXref ICD9CM:724.71 semapv:UnspecifiedMatching -DOID:12537 hypermobility of coccyx oboInOwl:hasDbXref UMLS_CUI:C0158295 semapv:UnspecifiedMatching +DOID:12537 hypermobility of coccyx oboInOwl:hasDbXref UMLS:C0158295 semapv:UnspecifiedMatching DOID:1254 trichostrongylosis oboInOwl:hasDbXref ICD10CM:B81.2 semapv:UnspecifiedMatching DOID:1254 trichostrongylosis oboInOwl:hasDbXref ICD9CM:127.6 semapv:UnspecifiedMatching DOID:1254 trichostrongylosis oboInOwl:hasDbXref MESH:D014253 semapv:UnspecifiedMatching -DOID:1254 trichostrongylosis oboInOwl:hasDbXref UMLS_CUI:C0040948 semapv:UnspecifiedMatching +DOID:1254 trichostrongylosis oboInOwl:hasDbXref UMLS:C0040948 semapv:UnspecifiedMatching DOID:1254 trichostrongylosis skos:exactMatch MESH:D014253 semapv:UnspecifiedMatching DOID:12546 atrophic nonflaccid tympanic membrane oboInOwl:hasDbXref ICD10CM:H73.82 semapv:UnspecifiedMatching DOID:12546 atrophic nonflaccid tympanic membrane oboInOwl:hasDbXref ICD9CM:384.82 semapv:UnspecifiedMatching -DOID:12546 atrophic nonflaccid tympanic membrane oboInOwl:hasDbXref UMLS_CUI:C0155471 semapv:UnspecifiedMatching +DOID:12546 atrophic nonflaccid tympanic membrane oboInOwl:hasDbXref UMLS:C0155471 semapv:UnspecifiedMatching DOID:12549 hepatitis A oboInOwl:hasDbXref MESH:D006506 semapv:UnspecifiedMatching DOID:12549 hepatitis A oboInOwl:hasDbXref NCI:C3096 semapv:UnspecifiedMatching -DOID:12549 hepatitis A oboInOwl:hasDbXref UMLS_CUI:C0019159 semapv:UnspecifiedMatching +DOID:12549 hepatitis A oboInOwl:hasDbXref UMLS:C0019159 semapv:UnspecifiedMatching DOID:1255 trichostrongyloidiasis oboInOwl:hasDbXref MESH:D014252 semapv:UnspecifiedMatching -DOID:1255 trichostrongyloidiasis oboInOwl:hasDbXref UMLS_CUI:C0040947 semapv:UnspecifiedMatching +DOID:1255 trichostrongyloidiasis oboInOwl:hasDbXref UMLS:C0040947 semapv:UnspecifiedMatching DOID:12550 hepatic coma oboInOwl:hasDbXref ICD10CM:K72.91 semapv:UnspecifiedMatching DOID:12550 hepatic coma oboInOwl:hasDbXref MESH:D006501 semapv:UnspecifiedMatching -DOID:12550 hepatic coma oboInOwl:hasDbXref UMLS_CUI:C0019147 semapv:UnspecifiedMatching +DOID:12550 hepatic coma oboInOwl:hasDbXref UMLS:C0019147 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref GARD:6588 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ICD10CM:D59.3 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ICD9CM:283.11 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref MESH:D006463 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref NCI:C75545 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ORDO:2134 semapv:UnspecifiedMatching -DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref UMLS_CUI:C0019061 semapv:UnspecifiedMatching +DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref UMLS:C0019061 semapv:UnspecifiedMatching DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref ICD10CM:N17.0 semapv:UnspecifiedMatching DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref MESH:D007683 semapv:UnspecifiedMatching DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref NCI:C34749 semapv:UnspecifiedMatching -DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref UMLS_CUI:C0022672 semapv:UnspecifiedMatching +DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref UMLS:C0022672 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ICD10CM:H50.81 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ICD9CM:378.71 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref MESH:D004370 semapv:UnspecifiedMatching @@ -21018,71 +21326,71 @@ DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref NCI:C84678 semapv:Unspec DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:126800 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ORDO:233 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref UMLS_CUI:C0013261 semapv:UnspecifiedMatching +DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref UMLS:C0013261 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref GARD:4503 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10CM:H49.4 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.72 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref MESH:D017246 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref OMIMPS:157640 semapv:UnspecifiedMatching -DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0162674 semapv:UnspecifiedMatching +DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia skos:exactMatch OMIMPS:157640 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD9CM:733.02 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:259750 semapv:UnspecifiedMatching -DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS_CUI:C0158447 semapv:UnspecifiedMatching +DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS:C0158447 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis skos:exactMatch OMIM:259750 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref ICD10CM:N77.0 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref ICD9CM:616.51 semapv:UnspecifiedMatching -DOID:12566 ulceration of vulva oboInOwl:hasDbXref UMLS_CUI:C0156340 semapv:UnspecifiedMatching +DOID:12566 ulceration of vulva oboInOwl:hasDbXref UMLS:C0156340 semapv:UnspecifiedMatching DOID:12568 dyscalculia oboInOwl:hasDbXref MESH:D060705 semapv:UnspecifiedMatching DOID:12570 phacolytic glaucoma oboInOwl:hasDbXref ICD9CM:365.51 semapv:UnspecifiedMatching -DOID:12570 phacolytic glaucoma oboInOwl:hasDbXref UMLS_CUI:C0152137 semapv:UnspecifiedMatching +DOID:12570 phacolytic glaucoma oboInOwl:hasDbXref UMLS:C0152137 semapv:UnspecifiedMatching DOID:12571 phacogenic glaucoma oboInOwl:hasDbXref ICD9CM:365.59 semapv:UnspecifiedMatching -DOID:12571 phacogenic glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154959 semapv:UnspecifiedMatching +DOID:12571 phacogenic glaucoma oboInOwl:hasDbXref UMLS:C0154959 semapv:UnspecifiedMatching DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref ICD10CM:P72.1 semapv:UnspecifiedMatching DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref ICD9CM:775.3 semapv:UnspecifiedMatching DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref NCI:C114906 semapv:UnspecifiedMatching -DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref UMLS_CUI:C0158983 semapv:UnspecifiedMatching +DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref UMLS:C0158983 semapv:UnspecifiedMatching DOID:12574 posterior uveitis oboInOwl:hasDbXref GARD:4457 semapv:UnspecifiedMatching DOID:12574 posterior uveitis oboInOwl:hasDbXref MESH:D015866 semapv:UnspecifiedMatching DOID:12574 posterior uveitis oboInOwl:hasDbXref NCI:C35111 semapv:UnspecifiedMatching -DOID:12574 posterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0042167 semapv:UnspecifiedMatching +DOID:12574 posterior uveitis oboInOwl:hasDbXref UMLS:C0042167 semapv:UnspecifiedMatching DOID:12577 urethral obstruction oboInOwl:hasDbXref MESH:D014524 semapv:UnspecifiedMatching DOID:12577 urethral obstruction oboInOwl:hasDbXref NCI:C79804 semapv:UnspecifiedMatching -DOID:12577 urethral obstruction oboInOwl:hasDbXref UMLS_CUI:C0041972 semapv:UnspecifiedMatching +DOID:12577 urethral obstruction oboInOwl:hasDbXref UMLS:C0041972 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref GARD:6213 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref ICD10CM:Q93.4 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref ICD9CM:758.31 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref NCI:C34518 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref OMIM:123450 semapv:UnspecifiedMatching -DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref UMLS_CUI:C0010314 semapv:UnspecifiedMatching +DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref UMLS:C0010314 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome skos:exactMatch OMIM:123450 semapv:UnspecifiedMatching DOID:12581 olecranon bursitis oboInOwl:hasDbXref ICD10CM:M70.2 semapv:UnspecifiedMatching DOID:12581 olecranon bursitis oboInOwl:hasDbXref ICD9CM:726.33 semapv:UnspecifiedMatching -DOID:12581 olecranon bursitis oboInOwl:hasDbXref UMLS_CUI:C0263962 semapv:UnspecifiedMatching +DOID:12581 olecranon bursitis oboInOwl:hasDbXref UMLS:C0263962 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref ICD10CM:Q93.81 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref ICD9CM:758.32 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref OMIM:192430 semapv:UnspecifiedMatching -DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref UMLS_CUI:C0220704 semapv:UnspecifiedMatching +DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref UMLS:C0220704 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome skos:exactMatch OMIM:192430 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref GARD:4462 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref ICD10CM:Q60.6 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref NCI:C40435 semapv:UnspecifiedMatching -DOID:12594 Potter's syndrome oboInOwl:hasDbXref UMLS_CUI:C0178426 semapv:UnspecifiedMatching +DOID:12594 Potter's syndrome oboInOwl:hasDbXref UMLS:C0178426 semapv:UnspecifiedMatching DOID:1260 parametritis oboInOwl:hasDbXref MESH:D010249 semapv:UnspecifiedMatching -DOID:1260 parametritis oboInOwl:hasDbXref UMLS_CUI:C0030455 semapv:UnspecifiedMatching +DOID:1260 parametritis oboInOwl:hasDbXref UMLS:C0030455 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICD10CM:C95.00 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICD9CM:208.0 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICDO:9801/3 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref NCI:C9300 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref OMIM:308960 semapv:UnspecifiedMatching -DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS_CUI:C0085669 semapv:UnspecifiedMatching -DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS_CUI:C1378511 semapv:UnspecifiedMatching +DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS:C0085669 semapv:UnspecifiedMatching +DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS:C1378511 semapv:UnspecifiedMatching DOID:12603 acute leukemia skos:exactMatch OMIM:308960 semapv:UnspecifiedMatching DOID:12637 perineocele oboInOwl:hasDbXref ICD10CM:N81.81 semapv:UnspecifiedMatching DOID:12637 perineocele oboInOwl:hasDbXref ICD9CM:618.05 semapv:UnspecifiedMatching -DOID:12637 perineocele oboInOwl:hasDbXref UMLS_CUI:C1456251 semapv:UnspecifiedMatching +DOID:12637 perineocele oboInOwl:hasDbXref UMLS:C1456251 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD10CM:Q40.0 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD9CM:750.5 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref MESH:D046248 semapv:UnspecifiedMatching @@ -21092,90 +21400,90 @@ DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:300711 semapv:U DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:610260 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612017 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612525 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref UMLS_CUI:C0700639 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref UMLS:C0700639 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref ICD10CM:K31.1 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref MESH:D011707 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref NCI:C34966 semapv:UnspecifiedMatching -DOID:12639 pyloric stenosis oboInOwl:hasDbXref UMLS_CUI:C0034194 semapv:UnspecifiedMatching +DOID:12639 pyloric stenosis oboInOwl:hasDbXref UMLS:C0034194 semapv:UnspecifiedMatching DOID:12641 displacement of cardia through esophageal hiatus oboInOwl:hasDbXref ICD10CM:Q40.1 semapv:UnspecifiedMatching DOID:12641 displacement of cardia through esophageal hiatus oboInOwl:hasDbXref ICD9CM:750.6 semapv:UnspecifiedMatching -DOID:12641 displacement of cardia through esophageal hiatus oboInOwl:hasDbXref UMLS_CUI:C0158674 semapv:UnspecifiedMatching +DOID:12641 displacement of cardia through esophageal hiatus oboInOwl:hasDbXref UMLS:C0158674 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref ICD10CM:K44 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref MESH:D006551 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref NCI:C98945 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref OMIM:142400 semapv:UnspecifiedMatching -DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS_CUI:C0267725 semapv:UnspecifiedMatching -DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS_CUI:C0376710 semapv:UnspecifiedMatching -DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS_CUI:C3489393 semapv:UnspecifiedMatching +DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS:C0267725 semapv:UnspecifiedMatching +DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS:C0376710 semapv:UnspecifiedMatching +DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS:C3489393 semapv:UnspecifiedMatching DOID:12642 hiatus hernia skos:exactMatch OMIM:142400 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref ICD10CM:H93.3 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref ICD9CM:388.5 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref MESH:D000160 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref NCI:C27207 semapv:UnspecifiedMatching -DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0001163 semapv:UnspecifiedMatching +DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref UMLS:C0001163 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref GARD:701 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref ICD10CM:K03.5 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref ICD9CM:521.6 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref MESH:D020254 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref OMIM:157950 semapv:UnspecifiedMatching -DOID:12661 tooth ankylosis oboInOwl:hasDbXref UMLS_CUI:C0155930 semapv:UnspecifiedMatching +DOID:12661 tooth ankylosis oboInOwl:hasDbXref UMLS:C0155930 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis skos:exactMatch OMIM:157950 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref GARD:7323 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref ICD10CM:B41 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref ICD9CM:116.1 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref NCI:C34891 semapv:UnspecifiedMatching -DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref UMLS_CUI:C0030409 semapv:UnspecifiedMatching +DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref UMLS:C0030409 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref GARD:5931 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref ICD10CM:B40 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref ICD9CM:116.0 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref MESH:D001759 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref NCI:C34428 semapv:UnspecifiedMatching -DOID:12663 blastomycosis oboInOwl:hasDbXref UMLS_CUI:C0005716 semapv:UnspecifiedMatching +DOID:12663 blastomycosis oboInOwl:hasDbXref UMLS:C0005716 semapv:UnspecifiedMatching DOID:12667 binocular vision disease oboInOwl:hasDbXref ICD10CM:H53.30 semapv:UnspecifiedMatching DOID:12667 binocular vision disease oboInOwl:hasDbXref ICD9CM:368.30 semapv:UnspecifiedMatching DOID:12667 binocular vision disease oboInOwl:hasDbXref NCI:C34422 semapv:UnspecifiedMatching -DOID:12667 binocular vision disease oboInOwl:hasDbXref UMLS_CUI:C0005461 semapv:UnspecifiedMatching +DOID:12667 binocular vision disease oboInOwl:hasDbXref UMLS:C0005461 semapv:UnspecifiedMatching DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref ICD10CM:H53.31 semapv:UnspecifiedMatching DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref ICD9CM:368.34 semapv:UnspecifiedMatching -DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref UMLS_CUI:C0155010 semapv:UnspecifiedMatching +DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref UMLS:C0155010 semapv:UnspecifiedMatching DOID:12678 hypercalcemia oboInOwl:hasDbXref ICD10CM:E83.52 semapv:UnspecifiedMatching DOID:12678 hypercalcemia oboInOwl:hasDbXref ICD9CM:275.42 semapv:UnspecifiedMatching DOID:12678 hypercalcemia oboInOwl:hasDbXref MESH:D006934 semapv:UnspecifiedMatching -DOID:12678 hypercalcemia oboInOwl:hasDbXref UMLS_CUI:C0020437 semapv:UnspecifiedMatching +DOID:12678 hypercalcemia oboInOwl:hasDbXref UMLS:C0020437 semapv:UnspecifiedMatching DOID:12679 nephrocalcinosis oboInOwl:hasDbXref GARD:7177 semapv:UnspecifiedMatching DOID:12679 nephrocalcinosis oboInOwl:hasDbXref MESH:D009397 semapv:UnspecifiedMatching DOID:12679 nephrocalcinosis oboInOwl:hasDbXref NCI:C84918 semapv:UnspecifiedMatching -DOID:12679 nephrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0027709 semapv:UnspecifiedMatching +DOID:12679 nephrocalcinosis oboInOwl:hasDbXref UMLS:C0027709 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref ICD9CM:335.23 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref MESH:D020828 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref NCI:C129934 semapv:UnspecifiedMatching -DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref UMLS_CUI:C0033790 semapv:UnspecifiedMatching +DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref UMLS:C0033790 semapv:UnspecifiedMatching DOID:12683 vestibular neuronitis oboInOwl:hasDbXref ICD10CM:H81.2 semapv:UnspecifiedMatching DOID:12683 vestibular neuronitis oboInOwl:hasDbXref ICD9CM:386.12 semapv:UnspecifiedMatching DOID:12683 vestibular neuronitis oboInOwl:hasDbXref MESH:D020338 semapv:UnspecifiedMatching -DOID:12683 vestibular neuronitis oboInOwl:hasDbXref UMLS_CUI:C0751908 semapv:UnspecifiedMatching +DOID:12683 vestibular neuronitis oboInOwl:hasDbXref UMLS:C0751908 semapv:UnspecifiedMatching DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref ICD10CM:F80.2 semapv:UnspecifiedMatching DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref ICD9CM:315.32 semapv:UnspecifiedMatching DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref NCI:C92563 semapv:UnspecifiedMatching -DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref UMLS_CUI:C0236827 semapv:UnspecifiedMatching +DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref UMLS:C0236827 semapv:UnspecifiedMatching DOID:12689 acoustic neuroma oboInOwl:hasDbXref GARD:223 semapv:UnspecifiedMatching DOID:12689 acoustic neuroma oboInOwl:hasDbXref MESH:D009464 semapv:UnspecifiedMatching DOID:12689 acoustic neuroma oboInOwl:hasDbXref NCI:C3276 semapv:UnspecifiedMatching -DOID:12689 acoustic neuroma oboInOwl:hasDbXref UMLS_CUI:C0027859 semapv:UnspecifiedMatching +DOID:12689 acoustic neuroma oboInOwl:hasDbXref UMLS:C0027859 semapv:UnspecifiedMatching DOID:12697 locked-in syndrome oboInOwl:hasDbXref GARD:6919 semapv:UnspecifiedMatching DOID:12697 locked-in syndrome oboInOwl:hasDbXref ICD10CM:G83.5 semapv:UnspecifiedMatching DOID:12697 locked-in syndrome oboInOwl:hasDbXref ICD9CM:344.81 semapv:UnspecifiedMatching DOID:12697 locked-in syndrome oboInOwl:hasDbXref MESH:D000080422 semapv:UnspecifiedMatching -DOID:12697 locked-in syndrome oboInOwl:hasDbXref UMLS_CUI:C0023944 semapv:UnspecifiedMatching +DOID:12697 locked-in syndrome oboInOwl:hasDbXref UMLS:C0023944 semapv:UnspecifiedMatching DOID:12698 gynecomastia oboInOwl:hasDbXref ICD10CM:N62 semapv:UnspecifiedMatching DOID:12698 gynecomastia oboInOwl:hasDbXref MESH:D006177 semapv:UnspecifiedMatching DOID:12698 gynecomastia oboInOwl:hasDbXref NCI:C3073 semapv:UnspecifiedMatching -DOID:12698 gynecomastia oboInOwl:hasDbXref UMLS_CUI:C0018418 semapv:UnspecifiedMatching +DOID:12698 gynecomastia oboInOwl:hasDbXref UMLS:C0018418 semapv:UnspecifiedMatching DOID:127 leiomyoma oboInOwl:hasDbXref ICDO:8890/0 semapv:UnspecifiedMatching DOID:127 leiomyoma oboInOwl:hasDbXref MESH:D007889 semapv:UnspecifiedMatching DOID:127 leiomyoma oboInOwl:hasDbXref NCI:C3157 semapv:UnspecifiedMatching -DOID:127 leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0023267 semapv:UnspecifiedMatching +DOID:127 leiomyoma oboInOwl:hasDbXref UMLS:C0023267 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref GARD:6626 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10CM:I78.0 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD9CM:448.0 semapv:UnspecifiedMatching @@ -21186,17 +21494,17 @@ DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:600376 s DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:601101 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:615506 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ORDO:774 semapv:UnspecifiedMatching -DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS_CUI:C0039445 semapv:UnspecifiedMatching +DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS:C0039445 semapv:UnspecifiedMatching DOID:12700 hyperprolactinemia oboInOwl:hasDbXref ICD10CM:E22.1 semapv:UnspecifiedMatching DOID:12700 hyperprolactinemia oboInOwl:hasDbXref MESH:D002640 semapv:UnspecifiedMatching DOID:12700 hyperprolactinemia oboInOwl:hasDbXref MESH:D006966 semapv:UnspecifiedMatching -DOID:12700 hyperprolactinemia oboInOwl:hasDbXref UMLS_CUI:C0008043 semapv:UnspecifiedMatching -DOID:12700 hyperprolactinemia oboInOwl:hasDbXref UMLS_CUI:C0020514 semapv:UnspecifiedMatching +DOID:12700 hyperprolactinemia oboInOwl:hasDbXref UMLS:C0008043 semapv:UnspecifiedMatching +DOID:12700 hyperprolactinemia oboInOwl:hasDbXref UMLS:C0020514 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref GARD:5862 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref MESH:D001260 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref NCI:C2887 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref OMIM:208900 semapv:UnspecifiedMatching -DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref UMLS_CUI:C0004135 semapv:UnspecifiedMatching +DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref UMLS:C0004135 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia skos:exactMatch MESH:D001260 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia skos:exactMatch OMIM:208900 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref GARD:6468 semapv:UnspecifiedMatching @@ -21204,27 +21512,27 @@ DOID:12705 Friedreich ataxia oboInOwl:hasDbXref ICD10CM:G11.11 semapv:Unspecifie DOID:12705 Friedreich ataxia oboInOwl:hasDbXref ICD9CM:334.0 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref MESH:D005621 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref NCI:C84718 semapv:UnspecifiedMatching -DOID:12705 Friedreich ataxia oboInOwl:hasDbXref UMLS_CUI:C0016719 semapv:UnspecifiedMatching +DOID:12705 Friedreich ataxia oboInOwl:hasDbXref UMLS:C0016719 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia skos:exactMatch MESH:D005621 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref GARD:9256 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref MESH:D002527 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref OMIM:213400 semapv:UnspecifiedMatching -DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref UMLS_CUI:C0007761 semapv:UnspecifiedMatching +DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref UMLS:C0007761 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia skos:exactMatch OMIM:213400 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref ICD10CM:I78 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref ICD9CM:448 semapv:UnspecifiedMatching -DOID:1271 capillary disease oboInOwl:hasDbXref UMLS_CUI:C0155765 semapv:UnspecifiedMatching +DOID:1271 capillary disease oboInOwl:hasDbXref UMLS:C0155765 semapv:UnspecifiedMatching DOID:12711 black piedra oboInOwl:hasDbXref ICD10CM:B36.3 semapv:UnspecifiedMatching DOID:12711 black piedra oboInOwl:hasDbXref ICD9CM:111.3 semapv:UnspecifiedMatching DOID:12711 black piedra oboInOwl:hasDbXref MESH:D010854 semapv:UnspecifiedMatching -DOID:12711 black piedra oboInOwl:hasDbXref UMLS_CUI:C0031898 semapv:UnspecifiedMatching -DOID:12711 black piedra oboInOwl:hasDbXref UMLS_CUI:C0153249 semapv:UnspecifiedMatching +DOID:12711 black piedra oboInOwl:hasDbXref UMLS:C0031898 semapv:UnspecifiedMatching +DOID:12711 black piedra oboInOwl:hasDbXref UMLS:C0153249 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref GARD:206 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref ICD10CM:Q61.5 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref NCI:C123200 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref OMIMPS:256100 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref ORDO:655 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis oboInOwl:hasDbXref UMLS_CUI:C0687120 semapv:UnspecifiedMatching +DOID:12712 nephronophthisis oboInOwl:hasDbXref UMLS:C0687120 semapv:UnspecifiedMatching DOID:12712 nephronophthisis skos:exactMatch OMIMPS:256100 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref GARD:1301 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref ICD10CM:Q77.6 semapv:UnspecifiedMatching @@ -21232,91 +21540,91 @@ DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref ICD9CM:756.55 semapv:Un DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref MESH:D004613 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref NCI:C84684 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref OMIM:225500 semapv:UnspecifiedMatching -DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref UMLS_CUI:C0013903 semapv:UnspecifiedMatching +DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref UMLS:C0013903 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome skos:exactMatch OMIM:225500 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref ICD10CM:P22.0 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref MESH:D006819 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref OMIM:267450 semapv:UnspecifiedMatching -DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref UMLS_CUI:C0020192 semapv:UnspecifiedMatching +DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0020192 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome skos:exactMatch OMIM:267450 semapv:UnspecifiedMatching DOID:12718 chronic gonococcal salpingitis oboInOwl:hasDbXref ICD9CM:098.37 semapv:UnspecifiedMatching -DOID:12718 chronic gonococcal salpingitis oboInOwl:hasDbXref UMLS_CUI:C0153208 semapv:UnspecifiedMatching +DOID:12718 chronic gonococcal salpingitis oboInOwl:hasDbXref UMLS:C0153208 semapv:UnspecifiedMatching DOID:1272 telangiectasis oboInOwl:hasDbXref MESH:D013684 semapv:UnspecifiedMatching DOID:1272 telangiectasis oboInOwl:hasDbXref NCI:C28194 semapv:UnspecifiedMatching -DOID:1272 telangiectasis oboInOwl:hasDbXref UMLS_CUI:C0039446 semapv:UnspecifiedMatching +DOID:1272 telangiectasis oboInOwl:hasDbXref UMLS:C0039446 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref ICD10CM:I67.2 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref ICD9CM:437.0 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref NCI:C34459 semapv:UnspecifiedMatching -DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0007775 semapv:UnspecifiedMatching +DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref UMLS:C0007775 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref GARD:10756 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref ICD9CM:756.56 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref MESH:D010009 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref ORDO:251 semapv:UnspecifiedMatching -DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0026760 semapv:UnspecifiedMatching +DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C0026760 semapv:UnspecifiedMatching DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref MESH:D018357 semapv:UnspecifiedMatching DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref NCI:C3354 semapv:UnspecifiedMatching -DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref UMLS_CUI:C0035235 semapv:UnspecifiedMatching +DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref UMLS:C0035235 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref GARD:7339 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref ICD10CM:H30.2 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref ICD9CM:363.21 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref MESH:D015868 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref NCI:C34903 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref OMIM:606177 semapv:UnspecifiedMatching -DOID:12731 pars planitis oboInOwl:hasDbXref UMLS_CUI:C0030593 semapv:UnspecifiedMatching +DOID:12731 pars planitis oboInOwl:hasDbXref UMLS:C0030593 semapv:UnspecifiedMatching DOID:12731 pars planitis skos:exactMatch OMIM:606177 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref MESH:D015867 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref NCI:C35110 semapv:UnspecifiedMatching -DOID:12732 intermediate uveitis oboInOwl:hasDbXref UMLS_CUI:C0042166 semapv:UnspecifiedMatching +DOID:12732 intermediate uveitis oboInOwl:hasDbXref UMLS:C0042166 semapv:UnspecifiedMatching DOID:12733 hypercementosis oboInOwl:hasDbXref ICD10CM:K03.4 semapv:UnspecifiedMatching DOID:12733 hypercementosis oboInOwl:hasDbXref ICD9CM:521.5 semapv:UnspecifiedMatching DOID:12733 hypercementosis oboInOwl:hasDbXref MESH:D006936 semapv:UnspecifiedMatching -DOID:12733 hypercementosis oboInOwl:hasDbXref UMLS_CUI:C0020441 semapv:UnspecifiedMatching +DOID:12733 hypercementosis oboInOwl:hasDbXref UMLS:C0020441 semapv:UnspecifiedMatching DOID:12735 hernia of ovary and fallopian tube oboInOwl:hasDbXref ICD10CM:N83.4 semapv:UnspecifiedMatching DOID:12735 hernia of ovary and fallopian tube oboInOwl:hasDbXref ICD9CM:620.4 semapv:UnspecifiedMatching -DOID:12735 hernia of ovary and fallopian tube oboInOwl:hasDbXref UMLS_CUI:C0495094 semapv:UnspecifiedMatching +DOID:12735 hernia of ovary and fallopian tube oboInOwl:hasDbXref UMLS:C0495094 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref GARD:9528 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref ICD10CM:A07.4 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref ICD9CM:007.5 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref MESH:D021866 semapv:UnspecifiedMatching -DOID:12750 cyclosporiasis oboInOwl:hasDbXref UMLS_CUI:C0343398 semapv:UnspecifiedMatching +DOID:12750 cyclosporiasis oboInOwl:hasDbXref UMLS:C0343398 semapv:UnspecifiedMatching DOID:12753 corneal staphyloma oboInOwl:hasDbXref ICD10CM:H18.72 semapv:UnspecifiedMatching DOID:12753 corneal staphyloma oboInOwl:hasDbXref ICD9CM:371.73 semapv:UnspecifiedMatching -DOID:12753 corneal staphyloma oboInOwl:hasDbXref UMLS_CUI:C0152440 semapv:UnspecifiedMatching +DOID:12753 corneal staphyloma oboInOwl:hasDbXref UMLS:C0152440 semapv:UnspecifiedMatching DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref ICD9CM:190.7 semapv:UnspecifiedMatching DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref NCI:C3567 semapv:UnspecifiedMatching -DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref UMLS_CUI:C0153631 semapv:UnspecifiedMatching +DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref UMLS:C0153631 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref ICD10CM:C69.3 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref ICD9CM:190.6 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref MESH:D002830 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref NCI:C2949 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref NCI:C3566 semapv:UnspecifiedMatching -DOID:12759 choroid cancer oboInOwl:hasDbXref UMLS_CUI:C0008523 semapv:UnspecifiedMatching -DOID:12759 choroid cancer oboInOwl:hasDbXref UMLS_CUI:C0153630 semapv:UnspecifiedMatching +DOID:12759 choroid cancer oboInOwl:hasDbXref UMLS:C0008523 semapv:UnspecifiedMatching +DOID:12759 choroid cancer oboInOwl:hasDbXref UMLS:C0153630 semapv:UnspecifiedMatching DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref GARD:7777 semapv:UnspecifiedMatching DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref MESH:D020333 semapv:UnspecifiedMatching DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref NCI:C85193 semapv:UnspecifiedMatching -DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref UMLS_CUI:C0040381 semapv:UnspecifiedMatching +DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref UMLS:C0040381 semapv:UnspecifiedMatching DOID:12782 cicatricial ectropion oboInOwl:hasDbXref ICD9CM:374.14 semapv:UnspecifiedMatching -DOID:12782 cicatricial ectropion oboInOwl:hasDbXref UMLS_CUI:C0155196 semapv:UnspecifiedMatching +DOID:12782 cicatricial ectropion oboInOwl:hasDbXref UMLS:C0155196 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref ICD10CM:G43.0 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref ICD9CM:346.1 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref MESH:D020326 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref NCI:C117004 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref OMIM:607501 semapv:UnspecifiedMatching -DOID:12783 migraine without aura oboInOwl:hasDbXref UMLS_CUI:C0338480 semapv:UnspecifiedMatching +DOID:12783 migraine without aura oboInOwl:hasDbXref UMLS:C0338480 semapv:UnspecifiedMatching DOID:12783 migraine without aura skos:exactMatch OMIM:607501 semapv:UnspecifiedMatching DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref ICD9CM:357.2 semapv:UnspecifiedMatching DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref MESH:D003929 semapv:UnspecifiedMatching -DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0271680 semapv:UnspecifiedMatching +DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref UMLS:C0271680 semapv:UnspecifiedMatching DOID:1279 ocular motility disease oboInOwl:hasDbXref GARD:7061 semapv:UnspecifiedMatching DOID:1279 ocular motility disease oboInOwl:hasDbXref GARD:7237 semapv:UnspecifiedMatching DOID:1279 ocular motility disease oboInOwl:hasDbXref ICD9CM:378.9 semapv:UnspecifiedMatching DOID:1279 ocular motility disease oboInOwl:hasDbXref MESH:D015835 semapv:UnspecifiedMatching -DOID:1279 ocular motility disease oboInOwl:hasDbXref UMLS_CUI:C0028850 semapv:UnspecifiedMatching +DOID:1279 ocular motility disease oboInOwl:hasDbXref UMLS:C0028850 semapv:UnspecifiedMatching DOID:12797 hallucinogen abuse oboInOwl:hasDbXref ICD10CM:F16.1 semapv:UnspecifiedMatching DOID:12797 hallucinogen abuse oboInOwl:hasDbXref ICD9CM:305.3 semapv:UnspecifiedMatching -DOID:12797 hallucinogen abuse oboInOwl:hasDbXref UMLS_CUI:C0018526 semapv:UnspecifiedMatching +DOID:12797 hallucinogen abuse oboInOwl:hasDbXref UMLS:C0018526 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref GARD:7065 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ICD10CM:E76.3 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ICD9CM:277.5 semapv:UnspecifiedMatching @@ -21324,73 +21632,73 @@ DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:Unspecif DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref NCI:C61259 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref OMIMPS:607014 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ORDO:79213 semapv:UnspecifiedMatching -DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref UMLS_CUI:C0026703 semapv:UnspecifiedMatching +DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref UMLS:C0026703 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis skos:exactMatch OMIMPS:607014 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref GARD:6675 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref ICD10CM:E76.1 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref NCI:C61260 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching -DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref UMLS_CUI:C0026705 semapv:UnspecifiedMatching +DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref UMLS:C0026705 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II skos:exactMatch OMIM:309900 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref GARD:7095 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref NCI:C61264 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching -DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref UMLS_CUI:C0026709 semapv:UnspecifiedMatching +DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref UMLS:C0026709 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI skos:exactMatch OMIM:253200 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref NCI:C61262 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref ORDO:581 semapv:UnspecifiedMatching -DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref UMLS_CUI:C0026706 semapv:UnspecifiedMatching +DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref UMLS:C0026706 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III skos:exactMatch OMIM:252940 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref GARD:10335 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref ICD10CM:E76.0 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref NCI:C85053 semapv:UnspecifiedMatching -DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref UMLS_CUI:C0023786 semapv:UnspecifiedMatching +DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref UMLS:C0023786 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref ICD10CM:E76.29 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref MESH:D016538 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref NCI:C84903 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching -DOID:12803 Sly syndrome oboInOwl:hasDbXref UMLS_CUI:C0085132 semapv:UnspecifiedMatching +DOID:12803 Sly syndrome oboInOwl:hasDbXref UMLS:C0085132 semapv:UnspecifiedMatching DOID:12803 Sly syndrome skos:exactMatch OMIM:253220 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref ICD10CM:E76.219 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref NCI:C61263 semapv:UnspecifiedMatching -DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref UMLS_CUI:C0026707 semapv:UnspecifiedMatching +DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref UMLS:C0026707 semapv:UnspecifiedMatching DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref ICD10CM:H04.03 semapv:UnspecifiedMatching DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref ICD9CM:375.03 semapv:UnspecifiedMatching -DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref UMLS_CUI:C1300133 semapv:UnspecifiedMatching +DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref UMLS:C1300133 semapv:UnspecifiedMatching DOID:1283 enterocele oboInOwl:hasDbXref ICD10CM:K46 semapv:UnspecifiedMatching DOID:1283 enterocele oboInOwl:hasDbXref ICD9CM:618.6 semapv:UnspecifiedMatching DOID:1283 enterocele oboInOwl:hasDbXref MESH:D006547 semapv:UnspecifiedMatching -DOID:1283 enterocele oboInOwl:hasDbXref UMLS_CUI:C0205792 semapv:UnspecifiedMatching +DOID:1283 enterocele oboInOwl:hasDbXref UMLS:C0205792 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref ICD10CM:G82.5 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref ICD9CM:344.00 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref MESH:D011782 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref NCI:C50721 semapv:UnspecifiedMatching -DOID:12835 quadriplegia oboInOwl:hasDbXref UMLS_CUI:C0034372 semapv:UnspecifiedMatching +DOID:12835 quadriplegia oboInOwl:hasDbXref UMLS:C0034372 semapv:UnspecifiedMatching DOID:12836 senile entropion oboInOwl:hasDbXref ICD9CM:374.01 semapv:UnspecifiedMatching -DOID:12836 senile entropion oboInOwl:hasDbXref UMLS_CUI:C0155188 semapv:UnspecifiedMatching +DOID:12836 senile entropion oboInOwl:hasDbXref UMLS:C0155188 semapv:UnspecifiedMatching DOID:12837 thyroid crisis oboInOwl:hasDbXref MESH:D013958 semapv:UnspecifiedMatching DOID:12837 thyroid crisis oboInOwl:hasDbXref NCI:C112836 semapv:UnspecifiedMatching -DOID:12837 thyroid crisis oboInOwl:hasDbXref UMLS_CUI:C0040127 semapv:UnspecifiedMatching +DOID:12837 thyroid crisis oboInOwl:hasDbXref UMLS:C0040127 semapv:UnspecifiedMatching DOID:1284 prolapse of female genital organ oboInOwl:hasDbXref ICD9CM:618.8 semapv:UnspecifiedMatching -DOID:1284 prolapse of female genital organ oboInOwl:hasDbXref UMLS_CUI:C0029801 semapv:UnspecifiedMatching +DOID:1284 prolapse of female genital organ oboInOwl:hasDbXref UMLS:C0029801 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref GARD:9742 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref ICD10CM:B76.0 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref MESH:D000724 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref NCI:C35805 semapv:UnspecifiedMatching -DOID:12841 ancylostomiasis oboInOwl:hasDbXref UMLS_CUI:C0002831 semapv:UnspecifiedMatching +DOID:12841 ancylostomiasis oboInOwl:hasDbXref UMLS:C0002831 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis skos:exactMatch MESH:D000724 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref GARD:6554 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref ICD10CM:G61.0 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref MESH:D020275 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref NCI:C116345 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref OMIM:139393 semapv:UnspecifiedMatching -DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref UMLS_CUI:C0018378 semapv:UnspecifiedMatching +DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref UMLS:C0018378 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome skos:exactMatch OMIM:139393 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref EFO:0003758 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref ICD10CM:F84.0 semapv:UnspecifiedMatching @@ -21399,12 +21707,12 @@ DOID:12849 autistic disorder oboInOwl:hasDbXref MESH:D001321 semapv:UnspecifiedM DOID:12849 autistic disorder oboInOwl:hasDbXref NCI:C97161 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref OMIM:209850 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref ORDO:106 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref UMLS_CUI:C0004352 semapv:UnspecifiedMatching +DOID:12849 autistic disorder oboInOwl:hasDbXref UMLS:C0004352 semapv:UnspecifiedMatching DOID:12849 autistic disorder skos:exactMatch OMIM:209850 semapv:UnspecifiedMatching DOID:1285 rectal disease oboInOwl:hasDbXref MESH:D012002 semapv:UnspecifiedMatching -DOID:1285 rectal disease oboInOwl:hasDbXref UMLS_CUI:C0034882 semapv:UnspecifiedMatching +DOID:1285 rectal disease oboInOwl:hasDbXref UMLS:C0034882 semapv:UnspecifiedMatching DOID:12857 Achilles bursitis oboInOwl:hasDbXref ICD10CM:M76.6 semapv:UnspecifiedMatching -DOID:12857 Achilles bursitis oboInOwl:hasDbXref UMLS_CUI:C0149846 semapv:UnspecifiedMatching +DOID:12857 Achilles bursitis oboInOwl:hasDbXref UMLS:C0149846 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref GARD:6677 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref ICD9CM:333.4 semapv:UnspecifiedMatching @@ -21412,7 +21720,7 @@ DOID:12858 Huntington's disease oboInOwl:hasDbXref KEGG:05016 semapv:Unspecified DOID:12858 Huntington's disease oboInOwl:hasDbXref MESH:D006816 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref NCI:C82342 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching -DOID:12858 Huntington's disease oboInOwl:hasDbXref UMLS_CUI:C0020179 semapv:UnspecifiedMatching +DOID:12858 Huntington's disease oboInOwl:hasDbXref UMLS:C0020179 semapv:UnspecifiedMatching DOID:12858 Huntington's disease skos:exactMatch OMIM:143100 semapv:UnspecifiedMatching DOID:12859 choreatic disease oboInOwl:hasDbXref ICD10CM:G25.5 semapv:UnspecifiedMatching DOID:12859 choreatic disease oboInOwl:hasDbXref OMIM:118700 semapv:UnspecifiedMatching @@ -21421,22 +21729,22 @@ DOID:12859 choreatic disease oboInOwl:hasDbXref ORDO:1429 semapv:UnspecifiedMatc DOID:1287 cardiovascular system disease oboInOwl:hasDbXref ICD9CM:429.2 semapv:UnspecifiedMatching DOID:1287 cardiovascular system disease oboInOwl:hasDbXref MESH:D002318 semapv:UnspecifiedMatching DOID:1287 cardiovascular system disease oboInOwl:hasDbXref NCI:C2931 semapv:UnspecifiedMatching -DOID:1287 cardiovascular system disease oboInOwl:hasDbXref UMLS_CUI:C0007222 semapv:UnspecifiedMatching +DOID:1287 cardiovascular system disease oboInOwl:hasDbXref UMLS:C0007222 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref ICD10CM:F45.21 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref ICD9CM:300.7 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref MESH:D006998 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref NCI:C9493 semapv:UnspecifiedMatching -DOID:12883 hypochondriasis oboInOwl:hasDbXref UMLS_CUI:C0020604 semapv:UnspecifiedMatching +DOID:12883 hypochondriasis oboInOwl:hasDbXref UMLS:C0020604 semapv:UnspecifiedMatching DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref GARD:3668 semapv:UnspecifiedMatching DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref ICD10CM:G61.0 semapv:UnspecifiedMatching DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 semapv:UnspecifiedMatching DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref NCI:C116958 semapv:UnspecifiedMatching -DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref UMLS_CUI:C0393799 semapv:UnspecifiedMatching +DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref UMLS:C0393799 semapv:UnspecifiedMatching DOID:1289 neurodegenerative disease oboInOwl:hasDbXref ICD10CM:G31.9 semapv:UnspecifiedMatching DOID:1289 neurodegenerative disease oboInOwl:hasDbXref MESH:D019636 semapv:UnspecifiedMatching DOID:1289 neurodegenerative disease oboInOwl:hasDbXref NCI:C27090 semapv:UnspecifiedMatching -DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS_CUI:C0524851 semapv:UnspecifiedMatching -DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS_CUI:C1285162 semapv:UnspecifiedMatching +DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS:C0524851 semapv:UnspecifiedMatching +DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS:C1285162 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref GARD:10252 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref ICD10CM:M35.0 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref ICD9CM:710.2 semapv:UnspecifiedMatching @@ -21444,48 +21752,48 @@ DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref MESH:D012859 semapv:Unspecified DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref NCI:C26883 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref NCI:C70647 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref OMIM:270150 semapv:UnspecifiedMatching -DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS_CUI:C0086981 semapv:UnspecifiedMatching -DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS_CUI:C1527336 semapv:UnspecifiedMatching +DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS:C0086981 semapv:UnspecifiedMatching +DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS:C1527336 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome skos:exactMatch OMIM:270150 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref GARD:8444 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref MESH:D007638 semapv:UnspecifiedMatching -DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref UMLS_CUI:C0022575 semapv:UnspecifiedMatching +DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref UMLS:C0022575 semapv:UnspecifiedMatching DOID:12897 submandibular gland disease oboInOwl:hasDbXref MESH:D013364 semapv:UnspecifiedMatching -DOID:12897 submandibular gland disease oboInOwl:hasDbXref UMLS_CUI:C0038557 semapv:UnspecifiedMatching +DOID:12897 submandibular gland disease oboInOwl:hasDbXref UMLS:C0038557 semapv:UnspecifiedMatching DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref NCI:C3949 semapv:UnspecifiedMatching -DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref UMLS_CUI:C0266995 semapv:UnspecifiedMatching +DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref UMLS:C0266995 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref GARD:7043 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref MESH:D008882 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref NCI:C34819 semapv:UnspecifiedMatching -DOID:12900 Mikulicz disease oboInOwl:hasDbXref UMLS_CUI:C0026103 semapv:UnspecifiedMatching +DOID:12900 Mikulicz disease oboInOwl:hasDbXref UMLS:C0026103 semapv:UnspecifiedMatching DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref MESH:D012797 semapv:UnspecifiedMatching -DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref UMLS_CUI:C0037033 semapv:UnspecifiedMatching +DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref UMLS:C0037033 semapv:UnspecifiedMatching DOID:12904 mucocele of salivary gland oboInOwl:hasDbXref ICD10CM:K11.6 semapv:UnspecifiedMatching DOID:12904 mucocele of salivary gland oboInOwl:hasDbXref ICD9CM:527.6 semapv:UnspecifiedMatching DOID:12904 mucocele of salivary gland oboInOwl:hasDbXref NCI:C27649 semapv:UnspecifiedMatching -DOID:12904 mucocele of salivary gland oboInOwl:hasDbXref UMLS_CUI:C0026686 semapv:UnspecifiedMatching +DOID:12904 mucocele of salivary gland oboInOwl:hasDbXref UMLS:C0026686 semapv:UnspecifiedMatching DOID:12905 sialolithiasis oboInOwl:hasDbXref ICD10CM:K11.5 semapv:UnspecifiedMatching DOID:12905 sialolithiasis oboInOwl:hasDbXref ICD9CM:527.5 semapv:UnspecifiedMatching DOID:12905 sialolithiasis oboInOwl:hasDbXref MESH:D015494 semapv:UnspecifiedMatching -DOID:12905 sialolithiasis oboInOwl:hasDbXref UMLS_CUI:C0036091 semapv:UnspecifiedMatching +DOID:12905 sialolithiasis oboInOwl:hasDbXref UMLS:C0036091 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD10CM:I73.1 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD9CM:443.1 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref MESH:D013919 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref NCI:C35070 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref OMIM:211480 semapv:UnspecifiedMatching -DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref UMLS_CUI:C0040021 semapv:UnspecifiedMatching +DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref UMLS:C0040021 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans skos:exactMatch OMIM:211480 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref ICD10CM:B53.0 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref ICD9CM:084.3 semapv:UnspecifiedMatching -DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref UMLS_CUI:C0152072 semapv:UnspecifiedMatching +DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref UMLS:C0152072 semapv:UnspecifiedMatching DOID:12926 hypodermyiasis oboInOwl:hasDbXref GARD:2883 semapv:UnspecifiedMatching DOID:12926 hypodermyiasis oboInOwl:hasDbXref MESH:D007000 semapv:UnspecifiedMatching -DOID:12926 hypodermyiasis oboInOwl:hasDbXref UMLS_CUI:C0020607 semapv:UnspecifiedMatching +DOID:12926 hypodermyiasis oboInOwl:hasDbXref UMLS:C0020607 semapv:UnspecifiedMatching DOID:12927 screw worm infectious disease oboInOwl:hasDbXref MESH:D012610 semapv:UnspecifiedMatching -DOID:12927 screw worm infectious disease oboInOwl:hasDbXref UMLS_CUI:C0036465 semapv:UnspecifiedMatching +DOID:12927 screw worm infectious disease oboInOwl:hasDbXref UMLS:C0036465 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref GARD:2121 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref GARD:6336 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD10CM:I42.4 semapv:UnspecifiedMatching @@ -21493,11 +21801,11 @@ DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD9CM:425.3 semapv:Uns DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref MESH:D004695 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref NCI:C98922 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 semapv:UnspecifiedMatching -DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref UMLS_CUI:C0014117 semapv:UnspecifiedMatching +DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref UMLS:C0014117 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis skos:exactMatch MESH:D004695 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis skos:exactMatch OMIM:226000 semapv:UnspecifiedMatching DOID:1293 labia minora carcinoma oboInOwl:hasDbXref NCI:C9364 semapv:UnspecifiedMatching -DOID:1293 labia minora carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334357 semapv:UnspecifiedMatching +DOID:1293 labia minora carcinoma oboInOwl:hasDbXref UMLS:C1334357 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref EFO:0000407 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref GARD:221 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching @@ -21506,40 +21814,40 @@ DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref MESH:D002311 semapv:Unspeci DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref NCI:C84673 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref OMIMPS:115200 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ORDO:217604 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007193 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0007193 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy skos:exactMatch OMIMPS:115200 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref GARD:6340 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref ICD9CM:425.0 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref MESH:D004719 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref NCI:C34585 semapv:UnspecifiedMatching -DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref UMLS_CUI:C0553980 semapv:UnspecifiedMatching +DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref UMLS:C0553980 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref GARD:6817 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10CM:H49.81 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref NCI:C84798 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 semapv:UnspecifiedMatching -DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS_CUI:C0022541 semapv:UnspecifiedMatching +DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS:C0022541 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome skos:exactMatch OMIM:530000 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.6 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.5 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref MESH:D002310 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref NCI:C53653 semapv:UnspecifiedMatching -DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007192 semapv:UnspecifiedMatching +DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref UMLS:C0007192 semapv:UnspecifiedMatching DOID:1294 vulva carcinoma oboInOwl:hasDbXref NCI:C4866 semapv:UnspecifiedMatching -DOID:1294 vulva carcinoma oboInOwl:hasDbXref UMLS_CUI:C0677055 semapv:UnspecifiedMatching +DOID:1294 vulva carcinoma oboInOwl:hasDbXref UMLS:C0677055 semapv:UnspecifiedMatching DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.23 semapv:UnspecifiedMatching DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref ICD9CM:374.21 semapv:UnspecifiedMatching DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching -DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155197 semapv:UnspecifiedMatching +DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref UMLS:C0155197 semapv:UnspecifiedMatching DOID:12959 lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.2 semapv:UnspecifiedMatching DOID:12959 lagophthalmos oboInOwl:hasDbXref ICD9CM:374.2 semapv:UnspecifiedMatching DOID:12959 lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching -DOID:12959 lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0152226 semapv:UnspecifiedMatching +DOID:12959 lagophthalmos oboInOwl:hasDbXref UMLS:C0152226 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref ICD9CM:755.55 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref NCI:C34348 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref OMIM:101200 semapv:UnspecifiedMatching -DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref UMLS_CUI:C1510455 semapv:UnspecifiedMatching +DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref UMLS:C1510455 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia skos:exactMatch MESH:D000168 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia skos:exactMatch OMIM:101200 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref GARD:7412 semapv:UnspecifiedMatching @@ -21547,175 +21855,175 @@ DOID:12961 Poland syndrome oboInOwl:hasDbXref ICD10CM:Q79.8 semapv:UnspecifiedMa DOID:12961 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref NCI:C85017 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref OMIM:173800 semapv:UnspecifiedMatching -DOID:12961 Poland syndrome oboInOwl:hasDbXref UMLS_CUI:C0032357 semapv:UnspecifiedMatching +DOID:12961 Poland syndrome oboInOwl:hasDbXref UMLS:C0032357 semapv:UnspecifiedMatching DOID:12961 Poland syndrome skos:exactMatch OMIM:173800 semapv:UnspecifiedMatching DOID:12969 central nervous system leukemia oboInOwl:hasDbXref NCI:C5440 semapv:UnspecifiedMatching -DOID:12969 central nervous system leukemia oboInOwl:hasDbXref UMLS_CUI:C1332884 semapv:UnspecifiedMatching +DOID:12969 central nervous system leukemia oboInOwl:hasDbXref UMLS:C1332884 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref GARD:6639 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref ICD10CM:D58.0 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref ICD9CM:282.0 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref MESH:D013103 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref NCI:C97074 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref ORDO:822 semapv:UnspecifiedMatching -DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref UMLS_CUI:C0037889 semapv:UnspecifiedMatching +DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref UMLS:C0037889 semapv:UnspecifiedMatching DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis oboInOwl:hasDbXref ICD9CM:202.46 semapv:UnspecifiedMatching -DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis oboInOwl:hasDbXref UMLS_CUI:C0153831 semapv:UnspecifiedMatching +DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis oboInOwl:hasDbXref UMLS:C0153831 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref ICD10CM:B51 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref ICD9CM:084.1 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref MESH:D016780 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref NCI:C34800 semapv:UnspecifiedMatching -DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref UMLS_CUI:C0024537 semapv:UnspecifiedMatching +DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref UMLS:C0024537 semapv:UnspecifiedMatching DOID:12984 vagus nerve neoplasm oboInOwl:hasDbXref NCI:C5831 semapv:UnspecifiedMatching -DOID:12984 vagus nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263901 semapv:UnspecifiedMatching +DOID:12984 vagus nerve neoplasm oboInOwl:hasDbXref UMLS:C1263901 semapv:UnspecifiedMatching DOID:12986 leukostasis oboInOwl:hasDbXref MESH:D018921 semapv:UnspecifiedMatching DOID:12986 leukostasis oboInOwl:hasDbXref NCI:C4062 semapv:UnspecifiedMatching -DOID:12986 leukostasis oboInOwl:hasDbXref UMLS_CUI:C0282548 semapv:UnspecifiedMatching +DOID:12986 leukostasis oboInOwl:hasDbXref UMLS:C0282548 semapv:UnspecifiedMatching DOID:12987 agranulocytosis oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching DOID:12987 agranulocytosis oboInOwl:hasDbXref MESH:D000380 semapv:UnspecifiedMatching -DOID:12987 agranulocytosis oboInOwl:hasDbXref UMLS_CUI:C0001824 semapv:UnspecifiedMatching +DOID:12987 agranulocytosis oboInOwl:hasDbXref UMLS:C0001824 semapv:UnspecifiedMatching DOID:12987 agranulocytosis skos:exactMatch MESH:D000380 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref EFO:0004216 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref ICD10CM:F91 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref ICD9CM:312.9 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref MESH:D019955 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref NCI:C89329 semapv:UnspecifiedMatching -DOID:12995 conduct disorder oboInOwl:hasDbXref UMLS_CUI:C0149654 semapv:UnspecifiedMatching +DOID:12995 conduct disorder oboInOwl:hasDbXref UMLS:C0149654 semapv:UnspecifiedMatching DOID:12996 acute dacryocystitis oboInOwl:hasDbXref ICD10CM:H04.32 semapv:UnspecifiedMatching DOID:12996 acute dacryocystitis oboInOwl:hasDbXref ICD9CM:375.32 semapv:UnspecifiedMatching -DOID:12996 acute dacryocystitis oboInOwl:hasDbXref UMLS_CUI:C0155237 semapv:UnspecifiedMatching +DOID:12996 acute dacryocystitis oboInOwl:hasDbXref UMLS:C0155237 semapv:UnspecifiedMatching DOID:12997 Phlegmonous dacryocystitis oboInOwl:hasDbXref ICD10CM:H04.31 semapv:UnspecifiedMatching DOID:12997 Phlegmonous dacryocystitis oboInOwl:hasDbXref ICD9CM:375.33 semapv:UnspecifiedMatching -DOID:12997 Phlegmonous dacryocystitis oboInOwl:hasDbXref UMLS_CUI:C0155238 semapv:UnspecifiedMatching +DOID:12997 Phlegmonous dacryocystitis oboInOwl:hasDbXref UMLS:C0155238 semapv:UnspecifiedMatching DOID:13001 carotid stenosis oboInOwl:hasDbXref MESH:D016893 semapv:UnspecifiedMatching DOID:13001 carotid stenosis oboInOwl:hasDbXref NCI:C95804 semapv:UnspecifiedMatching -DOID:13001 carotid stenosis oboInOwl:hasDbXref UMLS_CUI:C0007282 semapv:UnspecifiedMatching +DOID:13001 carotid stenosis oboInOwl:hasDbXref UMLS:C0007282 semapv:UnspecifiedMatching DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref ICD9CM:435.2 semapv:UnspecifiedMatching DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref MESH:D013349 semapv:UnspecifiedMatching DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref NCI:C35044 semapv:UnspecifiedMatching -DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref UMLS_CUI:C0038531 semapv:UnspecifiedMatching +DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref UMLS:C0038531 semapv:UnspecifiedMatching DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref ICD10CM:G45.0 semapv:UnspecifiedMatching DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref ICD9CM:435.3 semapv:UnspecifiedMatching DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching -DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref UMLS_CUI:C0042568 semapv:UnspecifiedMatching +DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref UMLS:C0042568 semapv:UnspecifiedMatching DOID:13003 vertebrobasilar insufficiency skos:exactMatch MESH:D014715 semapv:UnspecifiedMatching DOID:13005 intra-abdominal lymph node mast cell malignancy oboInOwl:hasDbXref ICD9CM:202.63 semapv:UnspecifiedMatching -DOID:13005 intra-abdominal lymph node mast cell malignancy oboInOwl:hasDbXref UMLS_CUI:C0153844 semapv:UnspecifiedMatching +DOID:13005 intra-abdominal lymph node mast cell malignancy oboInOwl:hasDbXref UMLS:C0153844 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref ICD10CM:B30.0 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref ICD9CM:077.1 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref NCI:C34590 semapv:UnspecifiedMatching -DOID:13014 shipyard eye oboInOwl:hasDbXref UMLS_CUI:C0014493 semapv:UnspecifiedMatching +DOID:13014 shipyard eye oboInOwl:hasDbXref UMLS:C0014493 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref GARD:5695 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref ICD10CM:H35.1 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref ICD9CM:362.21 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref NCI:C34982 semapv:UnspecifiedMatching -DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref UMLS_CUI:C0035344 semapv:UnspecifiedMatching +DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref UMLS:C0035344 semapv:UnspecifiedMatching DOID:13026 lobomycosis oboInOwl:hasDbXref ICD10CM:B48.0 semapv:UnspecifiedMatching DOID:13026 lobomycosis oboInOwl:hasDbXref ICD9CM:116.2 semapv:UnspecifiedMatching DOID:13026 lobomycosis oboInOwl:hasDbXref MESH:D060368 semapv:UnspecifiedMatching -DOID:13026 lobomycosis oboInOwl:hasDbXref UMLS_CUI:C0152066 semapv:UnspecifiedMatching +DOID:13026 lobomycosis oboInOwl:hasDbXref UMLS:C0152066 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref GARD:8172 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref ICD10CM:G45.4 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref ICD9CM:437.7 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref MESH:D020236 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref NCI:C85198 semapv:UnspecifiedMatching -DOID:13027 transient global amnesia oboInOwl:hasDbXref UMLS_CUI:C0338591 semapv:UnspecifiedMatching +DOID:13027 transient global amnesia oboInOwl:hasDbXref UMLS:C0338591 semapv:UnspecifiedMatching DOID:13031 balanoposthitis oboInOwl:hasDbXref ICD10CM:N47.6 semapv:UnspecifiedMatching DOID:13031 balanoposthitis oboInOwl:hasDbXref ICD9CM:607.1 semapv:UnspecifiedMatching -DOID:13031 balanoposthitis oboInOwl:hasDbXref UMLS_CUI:C0004691 semapv:UnspecifiedMatching +DOID:13031 balanoposthitis oboInOwl:hasDbXref UMLS:C0004691 semapv:UnspecifiedMatching DOID:13033 balanitis oboInOwl:hasDbXref ICD10CM:N48.1 semapv:UnspecifiedMatching DOID:13033 balanitis oboInOwl:hasDbXref MESH:D001446 semapv:UnspecifiedMatching DOID:13033 balanitis oboInOwl:hasDbXref NCI:C26705 semapv:UnspecifiedMatching -DOID:13033 balanitis oboInOwl:hasDbXref UMLS_CUI:C0004690 semapv:UnspecifiedMatching +DOID:13033 balanitis oboInOwl:hasDbXref UMLS:C0004690 semapv:UnspecifiedMatching DOID:13034 relapsing fever oboInOwl:hasDbXref ICD10CM:A68 semapv:UnspecifiedMatching DOID:13034 relapsing fever oboInOwl:hasDbXref ICD9CM:087 semapv:UnspecifiedMatching DOID:13034 relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching -DOID:13034 relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0035021 semapv:UnspecifiedMatching +DOID:13034 relapsing fever oboInOwl:hasDbXref UMLS:C0035021 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref ICD10CM:A68.0 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref ICD9CM:087.0 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref NCI:C128426 semapv:UnspecifiedMatching -DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0152061 semapv:UnspecifiedMatching +DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref UMLS:C0152061 semapv:UnspecifiedMatching DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref ICD10CM:A68.1 semapv:UnspecifiedMatching DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref ICD9CM:087.1 semapv:UnspecifiedMatching DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref NCI:C34976 semapv:UnspecifiedMatching -DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0035022 semapv:UnspecifiedMatching +DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref UMLS:C0035022 semapv:UnspecifiedMatching DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.22 semapv:UnspecifiedMatching DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref ICD9CM:374.22 semapv:UnspecifiedMatching -DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155198 semapv:UnspecifiedMatching +DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref UMLS:C0155198 semapv:UnspecifiedMatching DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.21 semapv:UnspecifiedMatching DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref ICD9CM:374.23 semapv:UnspecifiedMatching DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching -DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155199 semapv:UnspecifiedMatching +DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref UMLS:C0155199 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref ICD10CM:P29.3 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref ICD9CM:747.83 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref MESH:D010547 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref NCI:C85006 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref OMIM:265380 semapv:UnspecifiedMatching -DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref UMLS_CUI:C0031190 semapv:UnspecifiedMatching +DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref UMLS:C0031190 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome skos:exactMatch OMIM:265380 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref ICD10CM:J01.3 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref ICD9CM:461.3 semapv:UnspecifiedMatching -DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155807 semapv:UnspecifiedMatching +DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref UMLS:C0155807 semapv:UnspecifiedMatching DOID:13050 corpus luteum cyst oboInOwl:hasDbXref ICD9CM:620.1 semapv:UnspecifiedMatching -DOID:13050 corpus luteum cyst oboInOwl:hasDbXref UMLS_CUI:C0156361 semapv:UnspecifiedMatching +DOID:13050 corpus luteum cyst oboInOwl:hasDbXref UMLS:C0156361 semapv:UnspecifiedMatching DOID:13060 traumatic glaucoma oboInOwl:hasDbXref ICD9CM:365.65 semapv:UnspecifiedMatching -DOID:13060 traumatic glaucoma oboInOwl:hasDbXref UMLS_CUI:C0339594 semapv:UnspecifiedMatching +DOID:13060 traumatic glaucoma oboInOwl:hasDbXref UMLS:C0339594 semapv:UnspecifiedMatching DOID:13068 renal osteodystrophy oboInOwl:hasDbXref ICD10CM:N25.0 semapv:UnspecifiedMatching DOID:13068 renal osteodystrophy oboInOwl:hasDbXref ICD9CM:588.0 semapv:UnspecifiedMatching DOID:13068 renal osteodystrophy oboInOwl:hasDbXref MESH:D012080 semapv:UnspecifiedMatching DOID:13068 renal osteodystrophy oboInOwl:hasDbXref NCI:C114827 semapv:UnspecifiedMatching -DOID:13068 renal osteodystrophy oboInOwl:hasDbXref UMLS_CUI:C0035086 semapv:UnspecifiedMatching +DOID:13068 renal osteodystrophy oboInOwl:hasDbXref UMLS:C0035086 semapv:UnspecifiedMatching DOID:1307 dementia oboInOwl:hasDbXref ICD9CM:290.8 semapv:UnspecifiedMatching -DOID:1307 dementia oboInOwl:hasDbXref UMLS_CUI:C0154319 semapv:UnspecifiedMatching +DOID:1307 dementia oboInOwl:hasDbXref UMLS:C0154319 semapv:UnspecifiedMatching DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref ICD9CM:701.1 semapv:UnspecifiedMatching DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref NCI:C34746 semapv:UnspecifiedMatching -DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref UMLS_CUI:C0022581 semapv:UnspecifiedMatching +DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref UMLS:C0022581 semapv:UnspecifiedMatching DOID:13074 tinea unguium oboInOwl:hasDbXref ICD9CM:681.9 semapv:UnspecifiedMatching -DOID:13074 tinea unguium oboInOwl:hasDbXref UMLS_CUI:C0007644 semapv:UnspecifiedMatching +DOID:13074 tinea unguium oboInOwl:hasDbXref UMLS:C0007644 semapv:UnspecifiedMatching DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref ICD10CM:B47 semapv:UnspecifiedMatching DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref MESH:D008271 semapv:UnspecifiedMatching DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref NCI:C85505 semapv:UnspecifiedMatching -DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref UMLS_CUI:C0024449 semapv:UnspecifiedMatching +DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref UMLS:C0024449 semapv:UnspecifiedMatching DOID:13080 Jaccoud's syndrome oboInOwl:hasDbXref ICD10CM:M12.0 semapv:UnspecifiedMatching DOID:13080 Jaccoud's syndrome oboInOwl:hasDbXref ICD9CM:714.4 semapv:UnspecifiedMatching -DOID:13080 Jaccoud's syndrome oboInOwl:hasDbXref UMLS_CUI:C0152084 semapv:UnspecifiedMatching +DOID:13080 Jaccoud's syndrome oboInOwl:hasDbXref UMLS:C0152084 semapv:UnspecifiedMatching DOID:13081 hemangioma of subcutaneous tissue oboInOwl:hasDbXref NCI:C8540 semapv:UnspecifiedMatching -DOID:13081 hemangioma of subcutaneous tissue oboInOwl:hasDbXref UMLS_CUI:C0685200 semapv:UnspecifiedMatching +DOID:13081 hemangioma of subcutaneous tissue oboInOwl:hasDbXref UMLS:C0685200 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10CM:I45.6 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD9CM:426.81 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MESH:D008151 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ORDO:844 semapv:UnspecifiedMatching -DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS_CUI:C0024054 semapv:UnspecifiedMatching +DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C0024054 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome skos:exactMatch OMIM:108950 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref GARD:10285 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD10CM:P91.2 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD9CM:779.7 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref MESH:D007969 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref NCI:C99013 semapv:UnspecifiedMatching -DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref UMLS_CUI:C0023529 semapv:UnspecifiedMatching +DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref UMLS:C0023529 semapv:UnspecifiedMatching DOID:13089 intracranial arterial disease oboInOwl:hasDbXref MESH:D020765 semapv:UnspecifiedMatching -DOID:13089 intracranial arterial disease oboInOwl:hasDbXref UMLS_CUI:C0752138 semapv:UnspecifiedMatching +DOID:13089 intracranial arterial disease oboInOwl:hasDbXref UMLS:C0752138 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref ICD10CM:H34.23 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref ICD9CM:362.32 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref NCI:C34436 semapv:UnspecifiedMatching -DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0006123 semapv:UnspecifiedMatching +DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref UMLS:C0006123 semapv:UnspecifiedMatching DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching -DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref UMLS_CUI:C0042560 semapv:UnspecifiedMatching +DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref UMLS:C0042560 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref GARD:7664 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching -DOID:13096 Sneddon syndrome oboInOwl:hasDbXref UMLS_CUI:C0282492 semapv:UnspecifiedMatching +DOID:13096 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome skos:exactMatch OMIM:182410 semapv:UnspecifiedMatching DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching -DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref UMLS_CUI:C0007771 semapv:UnspecifiedMatching +DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref UMLS:C0007771 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref ICD10CM:H34.1 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref ICD9CM:362.31 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref NCI:C34456 semapv:UnspecifiedMatching -DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0007688 semapv:UnspecifiedMatching +DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref UMLS:C0007688 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref GARD:7064 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD10CM:I67.5 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD9CM:437.5 semapv:UnspecifiedMatching @@ -21730,109 +22038,109 @@ DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:615750 semapv:UnspecifiedMat DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:2573 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:280679 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:401945 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref UMLS_CUI:C0026654 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref UMLS:C0026654 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease skos:exactMatch MESH:D009072 semapv:UnspecifiedMatching DOID:13100 intracranial vasospasm oboInOwl:hasDbXref MESH:D020301 semapv:UnspecifiedMatching -DOID:13100 intracranial vasospasm oboInOwl:hasDbXref UMLS_CUI:C0751895 semapv:UnspecifiedMatching +DOID:13100 intracranial vasospasm oboInOwl:hasDbXref UMLS:C0751895 semapv:UnspecifiedMatching DOID:13109 bladder leiomyoma oboInOwl:hasDbXref NCI:C6178 semapv:UnspecifiedMatching -DOID:13109 bladder leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1332560 semapv:UnspecifiedMatching +DOID:13109 bladder leiomyoma oboInOwl:hasDbXref UMLS:C1332560 semapv:UnspecifiedMatching DOID:13110 bladder squamous papilloma oboInOwl:hasDbXref NCI:C39834 semapv:UnspecifiedMatching -DOID:13110 bladder squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1511199 semapv:UnspecifiedMatching +DOID:13110 bladder squamous papilloma oboInOwl:hasDbXref UMLS:C1511199 semapv:UnspecifiedMatching DOID:13112 mechanical entropion oboInOwl:hasDbXref ICD9CM:374.02 semapv:UnspecifiedMatching -DOID:13112 mechanical entropion oboInOwl:hasDbXref UMLS_CUI:C0155189 semapv:UnspecifiedMatching +DOID:13112 mechanical entropion oboInOwl:hasDbXref UMLS:C0155189 semapv:UnspecifiedMatching DOID:13113 cicatricial entropion oboInOwl:hasDbXref ICD9CM:374.04 semapv:UnspecifiedMatching -DOID:13113 cicatricial entropion oboInOwl:hasDbXref UMLS_CUI:C0155191 semapv:UnspecifiedMatching +DOID:13113 cicatricial entropion oboInOwl:hasDbXref UMLS:C0155191 semapv:UnspecifiedMatching DOID:13117 paronychia oboInOwl:hasDbXref ICD10CM:L03.0 semapv:UnspecifiedMatching DOID:13117 paronychia oboInOwl:hasDbXref MESH:D010304 semapv:UnspecifiedMatching DOID:13117 paronychia oboInOwl:hasDbXref NCI:C79702 semapv:UnspecifiedMatching -DOID:13117 paronychia oboInOwl:hasDbXref UMLS_CUI:C0030578 semapv:UnspecifiedMatching +DOID:13117 paronychia oboInOwl:hasDbXref UMLS:C0030578 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref EFO:0004236 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref GARD:6517 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref MESH:D005923 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref NCI:C37308 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref OMIMPS:603278 semapv:UnspecifiedMatching -DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref UMLS_CUI:C0017668 semapv:UnspecifiedMatching +DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref UMLS:C0017668 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis skos:exactMatch OMIMPS:603278 semapv:UnspecifiedMatching DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD10CM:D53.0 semapv:UnspecifiedMatching DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD9CM:281.4 semapv:UnspecifiedMatching -DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0154290 semapv:UnspecifiedMatching +DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref UMLS:C0154290 semapv:UnspecifiedMatching DOID:13121 deficiency anemia oboInOwl:hasDbXref ICD9CM:281.9 semapv:UnspecifiedMatching -DOID:13121 deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0041782 semapv:UnspecifiedMatching +DOID:13121 deficiency anemia oboInOwl:hasDbXref UMLS:C0041782 semapv:UnspecifiedMatching DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref ICD9CM:098.53 semapv:UnspecifiedMatching -DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref UMLS_CUI:C0153219 semapv:UnspecifiedMatching +DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref UMLS:C0153219 semapv:UnspecifiedMatching DOID:13129 severe pre-eclampsia oboInOwl:hasDbXref ICD9CM:642.50 semapv:UnspecifiedMatching -DOID:13129 severe pre-eclampsia oboInOwl:hasDbXref UMLS_CUI:C0156669 semapv:UnspecifiedMatching +DOID:13129 severe pre-eclampsia oboInOwl:hasDbXref UMLS:C0156669 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref GARD:8528 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref ICD10CM:O14.2 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref MESH:D017359 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref NCI:C84750 semapv:UnspecifiedMatching -DOID:13133 HELLP syndrome oboInOwl:hasDbXref UMLS_CUI:C0162739 semapv:UnspecifiedMatching +DOID:13133 HELLP syndrome oboInOwl:hasDbXref UMLS:C0162739 semapv:UnspecifiedMatching DOID:13134 hordeolum externum oboInOwl:hasDbXref ICD10CM:H00.01 semapv:UnspecifiedMatching DOID:13134 hordeolum externum oboInOwl:hasDbXref ICD9CM:373.11 semapv:UnspecifiedMatching -DOID:13134 hordeolum externum oboInOwl:hasDbXref UMLS_CUI:C0019919 semapv:UnspecifiedMatching +DOID:13134 hordeolum externum oboInOwl:hasDbXref UMLS:C0019919 semapv:UnspecifiedMatching DOID:13135 exophthalmic ophthalmoplegia oboInOwl:hasDbXref ICD9CM:376.22 semapv:UnspecifiedMatching -DOID:13135 exophthalmic ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152135 semapv:UnspecifiedMatching +DOID:13135 exophthalmic ophthalmoplegia oboInOwl:hasDbXref UMLS:C0152135 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref GARD:7883 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD10CM:G12.0 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD9CM:335.0 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref NCI:C98670 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref UMLS_CUI:C0043116 semapv:UnspecifiedMatching +DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref UMLS:C0043116 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease skos:exactMatch OMIM:253300 semapv:UnspecifiedMatching DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref ICD9CM:580.0 semapv:UnspecifiedMatching -DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0341692 semapv:UnspecifiedMatching +DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0341692 semapv:UnspecifiedMatching DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref NCI:C128143 semapv:UnspecifiedMatching -DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0403416 semapv:UnspecifiedMatching +DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref UMLS:C0403416 semapv:UnspecifiedMatching DOID:13140 suppurative uveitis oboInOwl:hasDbXref MESH:D015829 semapv:UnspecifiedMatching -DOID:13140 suppurative uveitis oboInOwl:hasDbXref UMLS_CUI:C0042168 semapv:UnspecifiedMatching +DOID:13140 suppurative uveitis oboInOwl:hasDbXref UMLS:C0042168 semapv:UnspecifiedMatching DOID:13141 uveitis oboInOwl:hasDbXref ICD10CM:H20.9 semapv:UnspecifiedMatching DOID:13141 uveitis oboInOwl:hasDbXref MESH:D014605 semapv:UnspecifiedMatching DOID:13141 uveitis oboInOwl:hasDbXref NCI:C26909 semapv:UnspecifiedMatching -DOID:13141 uveitis oboInOwl:hasDbXref UMLS_CUI:C0042164 semapv:UnspecifiedMatching +DOID:13141 uveitis oboInOwl:hasDbXref UMLS:C0042164 semapv:UnspecifiedMatching DOID:13143 benign secondary hypertension oboInOwl:hasDbXref ICD9CM:405.1 semapv:UnspecifiedMatching DOID:13143 benign secondary hypertension oboInOwl:hasDbXref NCI:C3658 semapv:UnspecifiedMatching -DOID:13143 benign secondary hypertension oboInOwl:hasDbXref UMLS_CUI:C0155620 semapv:UnspecifiedMatching +DOID:13143 benign secondary hypertension oboInOwl:hasDbXref UMLS:C0155620 semapv:UnspecifiedMatching DOID:13145 benign renovascular hypertension oboInOwl:hasDbXref ICD9CM:405.11 semapv:UnspecifiedMatching -DOID:13145 benign renovascular hypertension oboInOwl:hasDbXref UMLS_CUI:C0155621 semapv:UnspecifiedMatching +DOID:13145 benign renovascular hypertension oboInOwl:hasDbXref UMLS:C0155621 semapv:UnspecifiedMatching DOID:13146 esophageal candidiasis oboInOwl:hasDbXref ICD10CM:B37.81 semapv:UnspecifiedMatching DOID:13146 esophageal candidiasis oboInOwl:hasDbXref ICD9CM:112.84 semapv:UnspecifiedMatching DOID:13146 esophageal candidiasis oboInOwl:hasDbXref NCI:C27027 semapv:UnspecifiedMatching -DOID:13146 esophageal candidiasis oboInOwl:hasDbXref UMLS_CUI:C0239295 semapv:UnspecifiedMatching +DOID:13146 esophageal candidiasis oboInOwl:hasDbXref UMLS:C0239295 semapv:UnspecifiedMatching DOID:13147 fungal esophagitis oboInOwl:hasDbXref NCI:C27107 semapv:UnspecifiedMatching -DOID:13147 fungal esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341109 semapv:UnspecifiedMatching +DOID:13147 fungal esophagitis oboInOwl:hasDbXref UMLS:C0341109 semapv:UnspecifiedMatching DOID:13148 acute cystitis oboInOwl:hasDbXref ICD10CM:N30.0 semapv:UnspecifiedMatching DOID:13148 acute cystitis oboInOwl:hasDbXref ICD9CM:595.0 semapv:UnspecifiedMatching DOID:13148 acute cystitis oboInOwl:hasDbXref NCI:C26934 semapv:UnspecifiedMatching -DOID:13148 acute cystitis oboInOwl:hasDbXref UMLS_CUI:C0149523 semapv:UnspecifiedMatching +DOID:13148 acute cystitis oboInOwl:hasDbXref UMLS:C0149523 semapv:UnspecifiedMatching DOID:13159 scrotum squamous cell carcinoma oboInOwl:hasDbXref NCI:C4643 semapv:UnspecifiedMatching -DOID:13159 scrotum squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349551 semapv:UnspecifiedMatching +DOID:13159 scrotum squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0349551 semapv:UnspecifiedMatching DOID:13160 scrotum melanoma oboInOwl:hasDbXref NCI:C7361 semapv:UnspecifiedMatching -DOID:13160 scrotum melanoma oboInOwl:hasDbXref UMLS_CUI:C1331544 semapv:UnspecifiedMatching +DOID:13160 scrotum melanoma oboInOwl:hasDbXref UMLS:C1331544 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref GARD:602 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10CM:B44.81 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD9CM:518.6 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref NCI:C84547 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS_CUI:C0004031 semapv:UnspecifiedMatching +DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS:C0004031 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis skos:exactMatch OMIM:103920 semapv:UnspecifiedMatching DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD10CM:C60.0 semapv:UnspecifiedMatching DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD9CM:187.1 semapv:UnspecifiedMatching -DOID:13168 prepuce cancer oboInOwl:hasDbXref UMLS_CUI:C0153598 semapv:UnspecifiedMatching +DOID:13168 prepuce cancer oboInOwl:hasDbXref UMLS:C0153598 semapv:UnspecifiedMatching DOID:13169 spermatic cord cancer oboInOwl:hasDbXref ICD10CM:C63.1 semapv:UnspecifiedMatching DOID:13169 spermatic cord cancer oboInOwl:hasDbXref ICD9CM:187.6 semapv:UnspecifiedMatching DOID:13169 spermatic cord cancer oboInOwl:hasDbXref NCI:C3559 semapv:UnspecifiedMatching -DOID:13169 spermatic cord cancer oboInOwl:hasDbXref UMLS_CUI:C0153603 semapv:UnspecifiedMatching +DOID:13169 spermatic cord cancer oboInOwl:hasDbXref UMLS:C0153603 semapv:UnspecifiedMatching DOID:13174 dissociated nystagmus oboInOwl:hasDbXref ICD10CM:H55.04 semapv:UnspecifiedMatching DOID:13174 dissociated nystagmus oboInOwl:hasDbXref ICD9CM:379.55 semapv:UnspecifiedMatching DOID:13174 dissociated nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching -DOID:13174 dissociated nystagmus oboInOwl:hasDbXref UMLS_CUI:C0155380 semapv:UnspecifiedMatching +DOID:13174 dissociated nystagmus oboInOwl:hasDbXref UMLS:C0155380 semapv:UnspecifiedMatching DOID:13185 esophageal diverticulosis oboInOwl:hasDbXref MESH:D045723 semapv:UnspecifiedMatching -DOID:13185 esophageal diverticulosis oboInOwl:hasDbXref UMLS_CUI:C0917875 semapv:UnspecifiedMatching +DOID:13185 esophageal diverticulosis oboInOwl:hasDbXref UMLS:C0917875 semapv:UnspecifiedMatching DOID:13186 megaesophagus oboInOwl:hasDbXref MESH:D004931 semapv:UnspecifiedMatching DOID:13186 megaesophagus oboInOwl:hasDbXref NCI:C34811 semapv:UnspecifiedMatching -DOID:13186 megaesophagus oboInOwl:hasDbXref UMLS_CUI:C0025164 semapv:UnspecifiedMatching +DOID:13186 megaesophagus oboInOwl:hasDbXref UMLS:C0025164 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref EFO:0004274 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref ICD10CM:M10 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref ICD9CM:274 semapv:UnspecifiedMatching @@ -21840,8 +22148,8 @@ DOID:13189 gout oboInOwl:hasDbXref ICD9CM:274.0 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref MESH:D006073 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref MESH:D015210 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref NCI:C34650 semapv:UnspecifiedMatching -DOID:13189 gout oboInOwl:hasDbXref UMLS_CUI:C0003868 semapv:UnspecifiedMatching -DOID:13189 gout oboInOwl:hasDbXref UMLS_CUI:C0018099 semapv:UnspecifiedMatching +DOID:13189 gout oboInOwl:hasDbXref UMLS:C0003868 semapv:UnspecifiedMatching +DOID:13189 gout oboInOwl:hasDbXref UMLS:C0018099 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref ICD10CM:C71 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref ICD9CM:191 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref ICD9CM:239.6 semapv:UnspecifiedMatching @@ -21851,62 +22159,62 @@ DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C2907 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C3568 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C5115 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C7710 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0006118 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0153633 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0220624 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0750974 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0750979 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C1334557 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS:C0006118 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS:C0153633 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS:C0220624 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS:C0750974 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS:C0750979 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS:C1334557 semapv:UnspecifiedMatching DOID:13195 nontoxic goiter oboInOwl:hasDbXref ICD10CM:E04.9 semapv:UnspecifiedMatching DOID:13195 nontoxic goiter oboInOwl:hasDbXref NCI:C35271 semapv:UnspecifiedMatching -DOID:13195 nontoxic goiter oboInOwl:hasDbXref UMLS_CUI:C0221777 semapv:UnspecifiedMatching +DOID:13195 nontoxic goiter oboInOwl:hasDbXref UMLS:C0221777 semapv:UnspecifiedMatching DOID:13196 lingual goiter oboInOwl:hasDbXref MESH:D047268 semapv:UnspecifiedMatching -DOID:13196 lingual goiter oboInOwl:hasDbXref UMLS_CUI:C0271760 semapv:UnspecifiedMatching +DOID:13196 lingual goiter oboInOwl:hasDbXref UMLS:C0271760 semapv:UnspecifiedMatching DOID:13197 nodular goiter oboInOwl:hasDbXref MESH:D006044 semapv:UnspecifiedMatching DOID:13197 nodular goiter oboInOwl:hasDbXref NCI:C131437 semapv:UnspecifiedMatching -DOID:13197 nodular goiter oboInOwl:hasDbXref UMLS_CUI:C0018023 semapv:UnspecifiedMatching +DOID:13197 nodular goiter oboInOwl:hasDbXref UMLS:C0018023 semapv:UnspecifiedMatching DOID:13198 endemic goiter oboInOwl:hasDbXref ICD10CM:E01.2 semapv:UnspecifiedMatching DOID:13198 endemic goiter oboInOwl:hasDbXref ICD9CM:240.0 semapv:UnspecifiedMatching DOID:13198 endemic goiter oboInOwl:hasDbXref MESH:D006043 semapv:UnspecifiedMatching DOID:13198 endemic goiter oboInOwl:hasDbXref NCI:C35023 semapv:UnspecifiedMatching -DOID:13198 endemic goiter oboInOwl:hasDbXref UMLS_CUI:C0018022 semapv:UnspecifiedMatching +DOID:13198 endemic goiter oboInOwl:hasDbXref UMLS:C0018022 semapv:UnspecifiedMatching DOID:13200 substernal goiter oboInOwl:hasDbXref MESH:D006045 semapv:UnspecifiedMatching -DOID:13200 substernal goiter oboInOwl:hasDbXref UMLS_CUI:C0018024 semapv:UnspecifiedMatching +DOID:13200 substernal goiter oboInOwl:hasDbXref UMLS:C0018024 semapv:UnspecifiedMatching DOID:13206 nodular prostate oboInOwl:hasDbXref ICD10CM:N40 semapv:UnspecifiedMatching DOID:13206 nodular prostate oboInOwl:hasDbXref ICD9CM:600.1 semapv:UnspecifiedMatching -DOID:13206 nodular prostate oboInOwl:hasDbXref UMLS_CUI:C0748012 semapv:UnspecifiedMatching +DOID:13206 nodular prostate oboInOwl:hasDbXref UMLS:C0748012 semapv:UnspecifiedMatching DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.02 semapv:UnspecifiedMatching DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref NCI:C84457 semapv:UnspecifiedMatching -DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0154830 semapv:UnspecifiedMatching +DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref UMLS:C0154830 semapv:UnspecifiedMatching DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.03 semapv:UnspecifiedMatching DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref NCI:C35668 semapv:UnspecifiedMatching -DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0004606 semapv:UnspecifiedMatching +DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref UMLS:C0004606 semapv:UnspecifiedMatching DOID:13209 right bundle branch block oboInOwl:hasDbXref ICD9CM:426.51 semapv:UnspecifiedMatching -DOID:13209 right bundle branch block oboInOwl:hasDbXref UMLS_CUI:C0155704 semapv:UnspecifiedMatching +DOID:13209 right bundle branch block oboInOwl:hasDbXref UMLS:C0155704 semapv:UnspecifiedMatching DOID:13214 hole retinal cyst oboInOwl:hasDbXref ICD10CM:H35.34 semapv:UnspecifiedMatching DOID:13214 hole retinal cyst oboInOwl:hasDbXref ICD9CM:362.54 semapv:UnspecifiedMatching -DOID:13214 hole retinal cyst oboInOwl:hasDbXref UMLS_CUI:C1261331 semapv:UnspecifiedMatching +DOID:13214 hole retinal cyst oboInOwl:hasDbXref UMLS:C1261331 semapv:UnspecifiedMatching DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref ICD10CM:D25.0 semapv:UnspecifiedMatching DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref ICD9CM:218.0 semapv:UnspecifiedMatching -DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref UMLS_CUI:C0153993 semapv:UnspecifiedMatching +DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref UMLS:C0153993 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref EFO:0000731 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD10CM:D25 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD9CM:218 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref MESH:D007889 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref NCI:C3434 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref OMIM:150699 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref UMLS_CUI:C0042133 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref UMLS:C0042133 semapv:UnspecifiedMatching DOID:13223 uterine fibroid skos:exactMatch OMIM:150699 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref ICD10CM:A21.1 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref ICD9CM:021.3 semapv:UnspecifiedMatching -DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref UMLS_CUI:C0152944 semapv:UnspecifiedMatching +DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref UMLS:C0152944 semapv:UnspecifiedMatching DOID:13227 retinal dystrophies primarily involving Bruch's membrane oboInOwl:hasDbXref ICD9CM:362.77 semapv:UnspecifiedMatching -DOID:13227 retinal dystrophies primarily involving Bruch's membrane oboInOwl:hasDbXref UMLS_CUI:C0154866 semapv:UnspecifiedMatching +DOID:13227 retinal dystrophies primarily involving Bruch's membrane oboInOwl:hasDbXref UMLS:C0154866 semapv:UnspecifiedMatching DOID:13238 Haverhill fever oboInOwl:hasDbXref ICD10CM:A25.1 semapv:UnspecifiedMatching DOID:13238 Haverhill fever oboInOwl:hasDbXref ICD9CM:026.1 semapv:UnspecifiedMatching -DOID:13238 Haverhill fever oboInOwl:hasDbXref UMLS_CUI:C0152063 semapv:UnspecifiedMatching +DOID:13238 Haverhill fever oboInOwl:hasDbXref UMLS:C0152063 semapv:UnspecifiedMatching DOID:13239 internal pathological resorption oboInOwl:hasDbXref ICD9CM:521.41 semapv:UnspecifiedMatching -DOID:13239 internal pathological resorption oboInOwl:hasDbXref UMLS_CUI:C1456167 semapv:UnspecifiedMatching +DOID:13239 internal pathological resorption oboInOwl:hasDbXref UMLS:C1456167 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.1 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.2 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.3 semapv:UnspecifiedMatching @@ -21919,14 +22227,14 @@ DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:608935 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612571 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612593 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:614210 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0024624 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0153491 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0153492 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0153493 semapv:UnspecifiedMatching +DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0024624 semapv:UnspecifiedMatching +DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0153491 semapv:UnspecifiedMatching +DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0153492 semapv:UnspecifiedMatching +DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0153493 semapv:UnspecifiedMatching DOID:13240 tooth resorption oboInOwl:hasDbXref ICD10CM:K03.3 semapv:UnspecifiedMatching DOID:13240 tooth resorption oboInOwl:hasDbXref ICD9CM:521.4 semapv:UnspecifiedMatching DOID:13240 tooth resorption oboInOwl:hasDbXref MESH:D014091 semapv:UnspecifiedMatching -DOID:13240 tooth resorption oboInOwl:hasDbXref UMLS_CUI:C0040451 semapv:UnspecifiedMatching +DOID:13240 tooth resorption oboInOwl:hasDbXref UMLS:C0040451 semapv:UnspecifiedMatching DOID:13240 tooth resorption skos:exactMatch MESH:D014091 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref EFO:0003780 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref GARD:848 semapv:UnspecifiedMatching @@ -21935,40 +22243,40 @@ DOID:13241 Behcet's disease oboInOwl:hasDbXref ICD9CM:136.1 semapv:UnspecifiedMa DOID:13241 Behcet's disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref NCI:C34416 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref UMLS_CUI:C0004943 semapv:UnspecifiedMatching +DOID:13241 Behcet's disease oboInOwl:hasDbXref UMLS:C0004943 semapv:UnspecifiedMatching DOID:13241 Behcet's disease skos:exactMatch OMIM:109650 semapv:UnspecifiedMatching DOID:13248 mucocele of appendix oboInOwl:hasDbXref NCI:C3241 semapv:UnspecifiedMatching -DOID:13248 mucocele of appendix oboInOwl:hasDbXref UMLS_CUI:C0026684 semapv:UnspecifiedMatching +DOID:13248 mucocele of appendix oboInOwl:hasDbXref UMLS:C0026684 semapv:UnspecifiedMatching DOID:13249 pneumatosis cystoides intestinalis oboInOwl:hasDbXref MESH:D011006 semapv:UnspecifiedMatching -DOID:13249 pneumatosis cystoides intestinalis oboInOwl:hasDbXref UMLS_CUI:C0032266 semapv:UnspecifiedMatching +DOID:13249 pneumatosis cystoides intestinalis oboInOwl:hasDbXref UMLS:C0032266 semapv:UnspecifiedMatching DOID:1325 bronchus cancer oboInOwl:hasDbXref ICD10CM:C34 semapv:UnspecifiedMatching DOID:1325 bronchus cancer oboInOwl:hasDbXref ICD9CM:162.9 semapv:UnspecifiedMatching -DOID:1325 bronchus cancer oboInOwl:hasDbXref UMLS_CUI:C0348343 semapv:UnspecifiedMatching +DOID:1325 bronchus cancer oboInOwl:hasDbXref UMLS:C0348343 semapv:UnspecifiedMatching DOID:13250 diarrhea oboInOwl:hasDbXref ICD9CM:009.2 semapv:UnspecifiedMatching DOID:13250 diarrhea oboInOwl:hasDbXref MESH:D004403 semapv:UnspecifiedMatching -DOID:13250 diarrhea oboInOwl:hasDbXref UMLS_CUI:C0013369 semapv:UnspecifiedMatching +DOID:13250 diarrhea oboInOwl:hasDbXref UMLS:C0013369 semapv:UnspecifiedMatching DOID:13252 mesenteric vascular occlusion oboInOwl:hasDbXref MESH:D008641 semapv:UnspecifiedMatching -DOID:13252 mesenteric vascular occlusion oboInOwl:hasDbXref UMLS_CUI:C0025472 semapv:UnspecifiedMatching +DOID:13252 mesenteric vascular occlusion oboInOwl:hasDbXref UMLS:C0025472 semapv:UnspecifiedMatching DOID:13254 diverticulitis of colon oboInOwl:hasDbXref MESH:D004239 semapv:UnspecifiedMatching -DOID:13254 diverticulitis of colon oboInOwl:hasDbXref UMLS_CUI:C0012814 semapv:UnspecifiedMatching +DOID:13254 diverticulitis of colon oboInOwl:hasDbXref UMLS:C0012814 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref GARD:9564 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref ICD10CM:A01.0 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref ICD9CM:002.0 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref MESH:D014435 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref NCI:C35089 semapv:UnspecifiedMatching -DOID:13258 typhoid fever oboInOwl:hasDbXref UMLS_CUI:C0041466 semapv:UnspecifiedMatching +DOID:13258 typhoid fever oboInOwl:hasDbXref UMLS:C0041466 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref GARD:10353 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref ICD10CM:E80.20 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref ICD9CM:277.1 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref MESH:D011164 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref NCI:C97096 semapv:UnspecifiedMatching -DOID:13268 porphyria oboInOwl:hasDbXref UMLS_CUI:C0032708 semapv:UnspecifiedMatching +DOID:13268 porphyria oboInOwl:hasDbXref UMLS:C0032708 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref GARD:6619 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref ICD10CM:E80.29 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref NCI:C84759 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref UMLS_CUI:C0162531 semapv:UnspecifiedMatching +DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref UMLS:C0162531 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria skos:exactMatch OMIM:121300 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref GARD:4527 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching @@ -21977,13 +22285,13 @@ DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref NCI:C84698 semapv:Un DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ORDO:79278 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref UMLS_CUI:C0162568 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C0162568 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref GARD:4446 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref NCI:C84697 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref OMIM:263700 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria oboInOwl:hasDbXref UMLS_CUI:C0162530 semapv:UnspecifiedMatching +DOID:13271 cutaneous porphyria oboInOwl:hasDbXref UMLS:C0162530 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria skos:exactMatch OMIM:263700 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD10CM:J15.0 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD9CM:482.0 semapv:UnspecifiedMatching @@ -21994,80 +22302,80 @@ DOID:13276 Mycoplasma pneumoniae pneumonia oboInOwl:hasDbXref MESH:D011019 semap DOID:1328 Rift Valley fever oboInOwl:hasDbXref ICD10CM:A92.4 semapv:UnspecifiedMatching DOID:1328 Rift Valley fever oboInOwl:hasDbXref MESH:D012295 semapv:UnspecifiedMatching DOID:1328 Rift Valley fever oboInOwl:hasDbXref NCI:C128419 semapv:UnspecifiedMatching -DOID:1328 Rift Valley fever oboInOwl:hasDbXref UMLS_CUI:C0035613 semapv:UnspecifiedMatching +DOID:1328 Rift Valley fever oboInOwl:hasDbXref UMLS:C0035613 semapv:UnspecifiedMatching DOID:13282 intestinal tuberculosis oboInOwl:hasDbXref ICD9CM:014.8 semapv:UnspecifiedMatching -DOID:13282 intestinal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152724 semapv:UnspecifiedMatching +DOID:13282 intestinal tuberculosis oboInOwl:hasDbXref UMLS:C0152724 semapv:UnspecifiedMatching DOID:13295 crater-like holes of optic disc oboInOwl:hasDbXref ICD9CM:377.22 semapv:UnspecifiedMatching -DOID:13295 crater-like holes of optic disc oboInOwl:hasDbXref UMLS_CUI:C0155298 semapv:UnspecifiedMatching +DOID:13295 crater-like holes of optic disc oboInOwl:hasDbXref UMLS:C0155298 semapv:UnspecifiedMatching DOID:133 vaginal Mullerian papilloma oboInOwl:hasDbXref NCI:C40255 semapv:UnspecifiedMatching -DOID:133 vaginal Mullerian papilloma oboInOwl:hasDbXref UMLS_CUI:C1519926 semapv:UnspecifiedMatching +DOID:133 vaginal Mullerian papilloma oboInOwl:hasDbXref UMLS:C1519926 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref GARD:7610 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD10CM:M42.0 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD9CM:732.0 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref MESH:D012544 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref NCI:C34999 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref OMIM:181440 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease oboInOwl:hasDbXref UMLS_CUI:C0036310 semapv:UnspecifiedMatching +DOID:13300 Scheuermann's disease oboInOwl:hasDbXref UMLS:C0036310 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease skos:exactMatch OMIM:181440 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref ICD10CM:A36.85 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref ICD9CM:032.84 semapv:UnspecifiedMatching -DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref UMLS_CUI:C0152954 semapv:UnspecifiedMatching +DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref UMLS:C0152954 semapv:UnspecifiedMatching DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref ICD10CM:A36.89 semapv:UnspecifiedMatching DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref ICD9CM:032.83 semapv:UnspecifiedMatching -DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref UMLS_CUI:C0152953 semapv:UnspecifiedMatching +DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref UMLS:C0152953 semapv:UnspecifiedMatching DOID:13313 pancreatic mucinous ductal ectasia oboInOwl:hasDbXref NCI:C5717 semapv:UnspecifiedMatching -DOID:13313 pancreatic mucinous ductal ectasia oboInOwl:hasDbXref UMLS_CUI:C1335310 semapv:UnspecifiedMatching +DOID:13313 pancreatic mucinous ductal ectasia oboInOwl:hasDbXref UMLS:C1335310 semapv:UnspecifiedMatching DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref ICD10CM:K86.81 semapv:UnspecifiedMatching DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref MESH:D010188 semapv:UnspecifiedMatching DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref NCI:C84316 semapv:UnspecifiedMatching -DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref UMLS_CUI:C0267963 semapv:UnspecifiedMatching +DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref UMLS:C0267963 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref ICD10CM:E16.9 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref MESH:D046768 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref NCI:C4375 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref OMIMPS:256450 semapv:UnspecifiedMatching -DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref UMLS_CUI:C0027773 semapv:UnspecifiedMatching +DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref UMLS:C0027773 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia skos:exactMatch OMIMPS:256450 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.43 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD9CM:372.12 semapv:UnspecifiedMatching -DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155147 semapv:UnspecifiedMatching +DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref UMLS:C0155147 semapv:UnspecifiedMatching DOID:13327 anatomical narrow angle borderline glaucoma oboInOwl:hasDbXref ICD9CM:365.02 semapv:UnspecifiedMatching -DOID:13327 anatomical narrow angle borderline glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154941 semapv:UnspecifiedMatching +DOID:13327 anatomical narrow angle borderline glaucoma oboInOwl:hasDbXref UMLS:C0154941 semapv:UnspecifiedMatching DOID:13328 diabetic cataract oboInOwl:hasDbXref ICD9CM:366.41 semapv:UnspecifiedMatching -DOID:13328 diabetic cataract oboInOwl:hasDbXref UMLS_CUI:C0011876 semapv:UnspecifiedMatching +DOID:13328 diabetic cataract oboInOwl:hasDbXref UMLS:C0011876 semapv:UnspecifiedMatching DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref ICD10CM:H46.3 semapv:UnspecifiedMatching DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref ICD9CM:377.34 semapv:UnspecifiedMatching DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref MESH:D000081028 semapv:UnspecifiedMatching -DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155303 semapv:UnspecifiedMatching +DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref UMLS:C0155303 semapv:UnspecifiedMatching DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref ICD10CM:K14.3 semapv:UnspecifiedMatching DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref ICD9CM:529.3 semapv:UnspecifiedMatching -DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref UMLS_CUI:C0392494 semapv:UnspecifiedMatching +DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref UMLS:C0392494 semapv:UnspecifiedMatching DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref GARD:10326 semapv:UnspecifiedMatching DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref ICD10CM:P37.1 semapv:UnspecifiedMatching DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 semapv:UnspecifiedMatching DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref NCI:C50503 semapv:UnspecifiedMatching -DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0040560 semapv:UnspecifiedMatching +DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref UMLS:C0040560 semapv:UnspecifiedMatching DOID:13341 parasitic conjunctivitis oboInOwl:hasDbXref ICD9CM:372.15 semapv:UnspecifiedMatching -DOID:13341 parasitic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155148 semapv:UnspecifiedMatching +DOID:13341 parasitic conjunctivitis oboInOwl:hasDbXref UMLS:C0155148 semapv:UnspecifiedMatching DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref ICD10CM:C32.3 semapv:UnspecifiedMatching DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref ICD9CM:161.3 semapv:UnspecifiedMatching -DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref UMLS_CUI:C0153486 semapv:UnspecifiedMatching +DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref UMLS:C0153486 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref ICD10CM:F65.4 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref ICD9CM:302.2 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref MESH:D010378 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref NCI:C94355 semapv:UnspecifiedMatching -DOID:13351 pedophilia oboInOwl:hasDbXref UMLS_CUI:C0030764 semapv:UnspecifiedMatching +DOID:13351 pedophilia oboInOwl:hasDbXref UMLS:C0030764 semapv:UnspecifiedMatching DOID:13352 ego-dystonic sexual orientation oboInOwl:hasDbXref ICD9CM:302.0 semapv:UnspecifiedMatching -DOID:13352 ego-dystonic sexual orientation oboInOwl:hasDbXref UMLS_CUI:C0233880 semapv:UnspecifiedMatching +DOID:13352 ego-dystonic sexual orientation oboInOwl:hasDbXref UMLS:C0233880 semapv:UnspecifiedMatching DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref ICD10CM:H16.32 semapv:UnspecifiedMatching DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref ICD9CM:370.52 semapv:UnspecifiedMatching -DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155089 semapv:UnspecifiedMatching +DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref UMLS:C0155089 semapv:UnspecifiedMatching DOID:13356 senile ectropion oboInOwl:hasDbXref ICD9CM:374.11 semapv:UnspecifiedMatching -DOID:13356 senile ectropion oboInOwl:hasDbXref UMLS_CUI:C0155193 semapv:UnspecifiedMatching +DOID:13356 senile ectropion oboInOwl:hasDbXref UMLS:C0155193 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref ICD10CM:M22.4 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref ICD9CM:717.7 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref MESH:D046789 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref OMIM:168900 semapv:UnspecifiedMatching -DOID:13357 chondromalacia patellae oboInOwl:hasDbXref UMLS_CUI:C0008475 semapv:UnspecifiedMatching +DOID:13357 chondromalacia patellae oboInOwl:hasDbXref UMLS:C0008475 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae skos:exactMatch OMIM:168900 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref GARD:6322 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10CM:Q79.6 semapv:UnspecifiedMatching @@ -22075,36 +22383,36 @@ DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD9CM:756.83 semapv:Unspec DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D004535 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref NCI:C34568 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIMPS:130000 semapv:UnspecifiedMatching -DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS_CUI:C0013720 semapv:UnspecifiedMatching +DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0013720 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome skos:exactMatch OMIMPS:130000 semapv:UnspecifiedMatching DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref MESH:D021081 semapv:UnspecifiedMatching -DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref UMLS_CUI:C0236811 semapv:UnspecifiedMatching +DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref UMLS:C0236811 semapv:UnspecifiedMatching DOID:13365 reading disorder oboInOwl:hasDbXref ICD9CM:315.09 semapv:UnspecifiedMatching -DOID:13365 reading disorder oboInOwl:hasDbXref UMLS_CUI:C0154631 semapv:UnspecifiedMatching +DOID:13365 reading disorder oboInOwl:hasDbXref UMLS:C0154631 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref GARD:5023 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD10CM:G25.82 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD9CM:333.91 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref MESH:D016750 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref NCI:C85170 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref UMLS_CUI:C0085292 semapv:UnspecifiedMatching +DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref UMLS:C0085292 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome skos:exactMatch OMIM:184850 semapv:UnspecifiedMatching -DOID:13368 tinea profunda oboInOwl:hasDbXref UMLS_CUI:C1279621 semapv:UnspecifiedMatching +DOID:13368 tinea profunda oboInOwl:hasDbXref UMLS:C1279621 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref ICD10CM:B35.2 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref ICD9CM:110.2 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref MESH:C000656824 semapv:UnspecifiedMatching -DOID:13369 tinea manuum oboInOwl:hasDbXref UMLS_CUI:C0153246 semapv:UnspecifiedMatching +DOID:13369 tinea manuum oboInOwl:hasDbXref UMLS:C0153246 semapv:UnspecifiedMatching DOID:13371 scrub typhus oboInOwl:hasDbXref ICD10CM:A75.3 semapv:UnspecifiedMatching DOID:13371 scrub typhus oboInOwl:hasDbXref ICD9CM:081.2 semapv:UnspecifiedMatching DOID:13371 scrub typhus oboInOwl:hasDbXref MESH:D012612 semapv:UnspecifiedMatching -DOID:13371 scrub typhus oboInOwl:hasDbXref UMLS_CUI:C0036472 semapv:UnspecifiedMatching +DOID:13371 scrub typhus oboInOwl:hasDbXref UMLS:C0036472 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref GARD:5784 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD10CM:E88.01 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD9CM:273.4 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref NCI:C84397 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref UMLS_CUI:C0221757 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C0221757 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency skos:exactMatch MESH:D019896 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency skos:exactMatch OMIM:613490 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref GARD:6445 semapv:UnspecifiedMatching @@ -22114,14 +22422,14 @@ DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref NCI:C3040 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ORDO:337 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS_CUI:C0016037 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS:C0016037 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva skos:exactMatch OMIM:135100 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref ICD9CM:446.5 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref NCI:C35065 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref ORDO:397 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref UMLS_CUI:C0039483 semapv:UnspecifiedMatching +DOID:13375 temporal arteritis oboInOwl:hasDbXref UMLS:C0039483 semapv:UnspecifiedMatching DOID:13375 temporal arteritis skos:exactMatch OMIM:187360 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref EFO:0004246 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref GARD:6816 semapv:UnspecifiedMatching @@ -22130,7 +22438,7 @@ DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD9CM:446.1 semapv:UnspecifiedMa DOID:13378 Kawasaki disease oboInOwl:hasDbXref MESH:D009080 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref NCI:C34825 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref UMLS_CUI:C0026691 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref UMLS:C0026691 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease skos:exactMatch OMIM:611775 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref GARD:1999 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10CM:D64.4 semapv:UnspecifiedMatching @@ -22138,7 +22446,7 @@ DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref MESH:D000742 se DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref NCI:C84646 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIMPS:224120 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ORDO:85 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS_CUI:C0002876 semapv:UnspecifiedMatching +DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C0002876 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia skos:exactMatch OMIMPS:224120 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref GARD:12671 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref ICD10CM:D51.0 semapv:UnspecifiedMatching @@ -22146,20 +22454,20 @@ DOID:13381 pernicious anemia oboInOwl:hasDbXref ICD9CM:281.0 semapv:UnspecifiedM DOID:13381 pernicious anemia oboInOwl:hasDbXref MESH:D000752 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref NCI:C2871 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref OMIM:170900 semapv:UnspecifiedMatching -DOID:13381 pernicious anemia oboInOwl:hasDbXref UMLS_CUI:C0002892 semapv:UnspecifiedMatching +DOID:13381 pernicious anemia oboInOwl:hasDbXref UMLS:C0002892 semapv:UnspecifiedMatching DOID:13381 pernicious anemia skos:exactMatch OMIM:170900 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref ICD10CM:D53.1 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref MESH:D000749 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref NCI:C34382 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:613839 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002888 semapv:UnspecifiedMatching +DOID:13382 megaloblastic anemia oboInOwl:hasDbXref UMLS:C0002888 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref ICD10CM:A22.2 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref ICD9CM:022.2 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref MESH:C571911 semapv:UnspecifiedMatching -DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref UMLS_CUI:C0152945 semapv:UnspecifiedMatching +DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref UMLS:C0152945 semapv:UnspecifiedMatching DOID:13389 labia majora carcinoma oboInOwl:hasDbXref NCI:C9363 semapv:UnspecifiedMatching -DOID:13389 labia majora carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334356 semapv:UnspecifiedMatching +DOID:13389 labia majora carcinoma oboInOwl:hasDbXref UMLS:C1334356 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref GARD:6274 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref MESH:D029503 semapv:UnspecifiedMatching @@ -22171,114 +22479,114 @@ DOID:13399 color blindness oboInOwl:hasDbXref ICD10CM:H53.5 semapv:UnspecifiedMa DOID:13399 color blindness oboInOwl:hasDbXref ICD9CM:368.5 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref NCI:C3891 semapv:UnspecifiedMatching -DOID:13399 color blindness oboInOwl:hasDbXref UMLS_CUI:C0242225 semapv:UnspecifiedMatching +DOID:13399 color blindness oboInOwl:hasDbXref UMLS:C0242225 semapv:UnspecifiedMatching DOID:134 vaginal glandular tumor oboInOwl:hasDbXref NCI:C40250 semapv:UnspecifiedMatching -DOID:134 vaginal glandular tumor oboInOwl:hasDbXref UMLS_CUI:C1519921 semapv:UnspecifiedMatching +DOID:134 vaginal glandular tumor oboInOwl:hasDbXref UMLS:C1519921 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref GARD:7504 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref MESH:D012010 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref NCI:C34974 semapv:UnspecifiedMatching -DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref UMLS_CUI:C0034902 semapv:UnspecifiedMatching +DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref UMLS:C0034902 semapv:UnspecifiedMatching DOID:13401 angioid streaks oboInOwl:hasDbXref MESH:D000793 semapv:UnspecifiedMatching DOID:13401 angioid streaks oboInOwl:hasDbXref OMIM:607140 semapv:UnspecifiedMatching -DOID:13401 angioid streaks oboInOwl:hasDbXref UMLS_CUI:C0002982 semapv:UnspecifiedMatching +DOID:13401 angioid streaks oboInOwl:hasDbXref UMLS:C0002982 semapv:UnspecifiedMatching DOID:13401 angioid streaks skos:exactMatch OMIM:607140 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref ICD10CM:D86.3 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref NCI:C34996 semapv:UnspecifiedMatching -DOID:13402 skin sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036203 semapv:UnspecifiedMatching +DOID:13402 skin sarcoidosis oboInOwl:hasDbXref UMLS:C0036203 semapv:UnspecifiedMatching DOID:13403 neurosarcoidosis oboInOwl:hasDbXref NCI:C35441 semapv:UnspecifiedMatching -DOID:13403 neurosarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0398676 semapv:UnspecifiedMatching +DOID:13403 neurosarcoidosis oboInOwl:hasDbXref UMLS:C0398676 semapv:UnspecifiedMatching DOID:13404 uveoparotid fever oboInOwl:hasDbXref ICD10CM:D86.89 semapv:UnspecifiedMatching DOID:13404 uveoparotid fever oboInOwl:hasDbXref MESH:D014608 semapv:UnspecifiedMatching -DOID:13404 uveoparotid fever oboInOwl:hasDbXref UMLS_CUI:C0042171 semapv:UnspecifiedMatching +DOID:13404 uveoparotid fever oboInOwl:hasDbXref UMLS:C0042171 semapv:UnspecifiedMatching DOID:13405 cardiac sarcoidosis oboInOwl:hasDbXref NCI:C35589 semapv:UnspecifiedMatching -DOID:13405 cardiac sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0392077 semapv:UnspecifiedMatching +DOID:13405 cardiac sarcoidosis oboInOwl:hasDbXref UMLS:C0392077 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref ICD10CM:D86.0 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref MEDDRA:10037430 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref MESH:D017565 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref NCI:C34997 semapv:UnspecifiedMatching -DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036205 semapv:UnspecifiedMatching +DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref UMLS:C0036205 semapv:UnspecifiedMatching DOID:13407 hypercalcemic sarcoidosis oboInOwl:hasDbXref NCI:C35807 semapv:UnspecifiedMatching -DOID:13407 hypercalcemic sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C1334067 semapv:UnspecifiedMatching +DOID:13407 hypercalcemic sarcoidosis oboInOwl:hasDbXref UMLS:C1334067 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref ICD10CM:K83.2 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref ICD9CM:576.3 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref NCI:C78528 semapv:UnspecifiedMatching -DOID:13409 perforation of bile duct oboInOwl:hasDbXref UMLS_CUI:C0156218 semapv:UnspecifiedMatching +DOID:13409 perforation of bile duct oboInOwl:hasDbXref UMLS:C0156218 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref GARD:10452 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref ICD10CM:K76.82 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref ICD9CM:572.2 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref MESH:D006501 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref NCI:C79596 semapv:UnspecifiedMatching -DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0019151 semapv:UnspecifiedMatching +DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref UMLS:C0019151 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref ICD9CM:315.01 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref MESH:D004410 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref MESH:D004411 semapv:UnspecifiedMatching -DOID:13417 alexia oboInOwl:hasDbXref UMLS_CUI:C0002018 semapv:UnspecifiedMatching -DOID:13417 alexia oboInOwl:hasDbXref UMLS_CUI:C0013388 semapv:UnspecifiedMatching +DOID:13417 alexia oboInOwl:hasDbXref UMLS:C0002018 semapv:UnspecifiedMatching +DOID:13417 alexia oboInOwl:hasDbXref UMLS:C0013388 semapv:UnspecifiedMatching DOID:13419 neurogenic bowel oboInOwl:hasDbXref ICD9CM:564.81 semapv:UnspecifiedMatching DOID:13419 neurogenic bowel oboInOwl:hasDbXref MESH:D055496 semapv:UnspecifiedMatching -DOID:13419 neurogenic bowel oboInOwl:hasDbXref UMLS_CUI:C0695242 semapv:UnspecifiedMatching +DOID:13419 neurogenic bowel oboInOwl:hasDbXref UMLS:C0695242 semapv:UnspecifiedMatching DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD10CM:D61.0 semapv:UnspecifiedMatching DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD9CM:284.0 semapv:UnspecifiedMatching DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref MESH:D029502 semapv:UnspecifiedMatching -DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0702159 semapv:UnspecifiedMatching -DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0949116 semapv:UnspecifiedMatching +DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS:C0702159 semapv:UnspecifiedMatching +DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS:C0949116 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref ICD10CM:N34.2 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref ICD9CM:597.80 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref MESH:D014526 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref NCI:C26904 semapv:UnspecifiedMatching -DOID:1343 urethritis oboInOwl:hasDbXref UMLS_CUI:C0041976 semapv:UnspecifiedMatching -DOID:1343 urethritis oboInOwl:hasDbXref UMLS_CUI:C0311389 semapv:UnspecifiedMatching +DOID:1343 urethritis oboInOwl:hasDbXref UMLS:C0041976 semapv:UnspecifiedMatching +DOID:1343 urethritis oboInOwl:hasDbXref UMLS:C0311389 semapv:UnspecifiedMatching DOID:13431 bejel oboInOwl:hasDbXref GARD:5905 semapv:UnspecifiedMatching DOID:13431 bejel oboInOwl:hasDbXref MESH:D014211 semapv:UnspecifiedMatching -DOID:13431 bejel oboInOwl:hasDbXref UMLS_CUI:C0004945 semapv:UnspecifiedMatching +DOID:13431 bejel oboInOwl:hasDbXref UMLS:C0004945 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref GARD:9536 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref ICD10CM:A24.0 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref ICD9CM:024 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref MESH:D005896 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref NCI:C34638 semapv:UnspecifiedMatching -DOID:13444 glanders oboInOwl:hasDbXref UMLS_CUI:C0017589 semapv:UnspecifiedMatching +DOID:13444 glanders oboInOwl:hasDbXref UMLS:C0017589 semapv:UnspecifiedMatching DOID:13446 basilar artery occlusion oboInOwl:hasDbXref ICD10CM:I65.1 semapv:UnspecifiedMatching DOID:13446 basilar artery occlusion oboInOwl:hasDbXref ICD9CM:433.0 semapv:UnspecifiedMatching -DOID:13446 basilar artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0265098 semapv:UnspecifiedMatching +DOID:13446 basilar artery occlusion oboInOwl:hasDbXref UMLS:C0265098 semapv:UnspecifiedMatching DOID:13447 corneal argyrosis oboInOwl:hasDbXref ICD10CM:H18.02 semapv:UnspecifiedMatching DOID:13447 corneal argyrosis oboInOwl:hasDbXref ICD9CM:371.16 semapv:UnspecifiedMatching -DOID:13447 corneal argyrosis oboInOwl:hasDbXref UMLS_CUI:C0155108 semapv:UnspecifiedMatching +DOID:13447 corneal argyrosis oboInOwl:hasDbXref UMLS:C0155108 semapv:UnspecifiedMatching DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.05 semapv:UnspecifiedMatching DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.13 semapv:UnspecifiedMatching -DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155106 semapv:UnspecifiedMatching +DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref UMLS:C0155106 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref GARD:9525 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref ICD10CM:B38 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref ICD9CM:114 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref MESH:D003047 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref NCI:C84642 semapv:UnspecifiedMatching -DOID:13450 coccidioidomycosis oboInOwl:hasDbXref UMLS_CUI:C0009186 semapv:UnspecifiedMatching +DOID:13450 coccidioidomycosis oboInOwl:hasDbXref UMLS:C0009186 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref GARD:12911 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref ICD10CM:H15.0 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref ICD9CM:379.00 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref MESH:D015423 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref NCI:C119046 semapv:UnspecifiedMatching -DOID:13452 scleritis oboInOwl:hasDbXref UMLS_CUI:C0036416 semapv:UnspecifiedMatching +DOID:13452 scleritis oboInOwl:hasDbXref UMLS:C0036416 semapv:UnspecifiedMatching DOID:13453 gonococcal bursitis oboInOwl:hasDbXref ICD10CM:A54.49 semapv:UnspecifiedMatching DOID:13453 gonococcal bursitis oboInOwl:hasDbXref ICD9CM:098.52 semapv:UnspecifiedMatching -DOID:13453 gonococcal bursitis oboInOwl:hasDbXref UMLS_CUI:C0153218 semapv:UnspecifiedMatching +DOID:13453 gonococcal bursitis oboInOwl:hasDbXref UMLS:C0153218 semapv:UnspecifiedMatching DOID:13454 gonococcal synovitis oboInOwl:hasDbXref ICD9CM:098.51 semapv:UnspecifiedMatching -DOID:13454 gonococcal synovitis oboInOwl:hasDbXref UMLS_CUI:C0343714 semapv:UnspecifiedMatching +DOID:13454 gonococcal synovitis oboInOwl:hasDbXref UMLS:C0343714 semapv:UnspecifiedMatching DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref ICD10CM:N36.42 semapv:UnspecifiedMatching DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref ICD9CM:599.82 semapv:UnspecifiedMatching -DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref UMLS_CUI:C0375381 semapv:UnspecifiedMatching +DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref UMLS:C0375381 semapv:UnspecifiedMatching DOID:13473 central pterygium oboInOwl:hasDbXref ICD10CM:H11.02 semapv:UnspecifiedMatching DOID:13473 central pterygium oboInOwl:hasDbXref ICD9CM:372.43 semapv:UnspecifiedMatching -DOID:13473 central pterygium oboInOwl:hasDbXref UMLS_CUI:C0155156 semapv:UnspecifiedMatching +DOID:13473 central pterygium oboInOwl:hasDbXref UMLS:C0155156 semapv:UnspecifiedMatching DOID:13474 progressive peripheral pterygium oboInOwl:hasDbXref ICD9CM:372.42 semapv:UnspecifiedMatching -DOID:13474 progressive peripheral pterygium oboInOwl:hasDbXref UMLS_CUI:C0155155 semapv:UnspecifiedMatching +DOID:13474 progressive peripheral pterygium oboInOwl:hasDbXref UMLS:C0155155 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref ICD10CM:C32.1 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref ICD9CM:161.1 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref NCI:C3545 semapv:UnspecifiedMatching -DOID:13476 supraglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153484 semapv:UnspecifiedMatching +DOID:13476 supraglottis cancer oboInOwl:hasDbXref UMLS:C0153484 semapv:UnspecifiedMatching DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref ICD9CM:607.81 semapv:UnspecifiedMatching DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref NCI:C3523 semapv:UnspecifiedMatching -DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref UMLS_CUI:C0152460 semapv:UnspecifiedMatching +DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref UMLS:C0152460 semapv:UnspecifiedMatching DOID:13477 balanitis xerotica obliterans skos:exactMatch MESH:D052798 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref GARD:85 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ICD10CM:Q77.1 semapv:UnspecifiedMatching @@ -22291,78 +22599,78 @@ DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:1860 semapv:Unspecifi DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:2655 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93274 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93275 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref UMLS_CUI:C0039743 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref UMLS:C0039743 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia skos:exactMatch MESH:D013796 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref GARD:7475 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref MESH:D016715 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref NCI:C85032 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref OMIM:176920 semapv:UnspecifiedMatching -DOID:13482 Proteus syndrome oboInOwl:hasDbXref UMLS_CUI:C0085261 semapv:UnspecifiedMatching +DOID:13482 Proteus syndrome oboInOwl:hasDbXref UMLS:C0085261 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome skos:exactMatch OMIM:176920 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref GARD:6040 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD10CM:F84.3 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD9CM:299.1 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref NCI:C97164 semapv:UnspecifiedMatching -DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref UMLS_CUI:C0236791 semapv:UnspecifiedMatching +DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref UMLS:C0236791 semapv:UnspecifiedMatching DOID:13490 active cochleovestibular Meniere's disease oboInOwl:hasDbXref ICD9CM:386.01 semapv:UnspecifiedMatching -DOID:13490 active cochleovestibular Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0155496 semapv:UnspecifiedMatching +DOID:13490 active cochleovestibular Meniere's disease oboInOwl:hasDbXref UMLS:C0155496 semapv:UnspecifiedMatching DOID:13491 active vestibular Meniere's disease oboInOwl:hasDbXref ICD9CM:386.03 semapv:UnspecifiedMatching -DOID:13491 active vestibular Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0155498 semapv:UnspecifiedMatching +DOID:13491 active vestibular Meniere's disease oboInOwl:hasDbXref UMLS:C0155498 semapv:UnspecifiedMatching DOID:13492 active cochlear Meniere's disease oboInOwl:hasDbXref ICD9CM:386.02 semapv:UnspecifiedMatching -DOID:13492 active cochlear Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0155497 semapv:UnspecifiedMatching +DOID:13492 active cochlear Meniere's disease oboInOwl:hasDbXref UMLS:C0155497 semapv:UnspecifiedMatching DOID:13498 urethral syndrome oboInOwl:hasDbXref ICD10CM:N34.3 semapv:UnspecifiedMatching DOID:13498 urethral syndrome oboInOwl:hasDbXref ICD9CM:597.81 semapv:UnspecifiedMatching -DOID:13498 urethral syndrome oboInOwl:hasDbXref UMLS_CUI:C0156279 semapv:UnspecifiedMatching +DOID:13498 urethral syndrome oboInOwl:hasDbXref UMLS:C0156279 semapv:UnspecifiedMatching DOID:13499 jejunal cancer oboInOwl:hasDbXref ICD10CM:C17.1 semapv:UnspecifiedMatching DOID:13499 jejunal cancer oboInOwl:hasDbXref ICD9CM:152.1 semapv:UnspecifiedMatching DOID:13499 jejunal cancer oboInOwl:hasDbXref MESH:D007580 semapv:UnspecifiedMatching DOID:13499 jejunal cancer oboInOwl:hasDbXref NCI:C170919 semapv:UnspecifiedMatching -DOID:13499 jejunal cancer oboInOwl:hasDbXref UMLS_CUI:C0153427 semapv:UnspecifiedMatching +DOID:13499 jejunal cancer oboInOwl:hasDbXref UMLS:C0153427 semapv:UnspecifiedMatching DOID:135 benign vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40275 semapv:UnspecifiedMatching -DOID:135 benign vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1511106 semapv:UnspecifiedMatching +DOID:135 benign vaginal carcinosarcoma oboInOwl:hasDbXref UMLS:C1511106 semapv:UnspecifiedMatching DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref MESH:D010255 semapv:UnspecifiedMatching DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref NCI:C7488 semapv:UnspecifiedMatching -DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0030470 semapv:UnspecifiedMatching +DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0030470 semapv:UnspecifiedMatching DOID:13500 hairy tongue oboInOwl:hasDbXref MESH:D014064 semapv:UnspecifiedMatching DOID:13500 hairy tongue oboInOwl:hasDbXref NCI:C35075 semapv:UnspecifiedMatching -DOID:13500 hairy tongue oboInOwl:hasDbXref UMLS_CUI:C0040414 semapv:UnspecifiedMatching +DOID:13500 hairy tongue oboInOwl:hasDbXref UMLS:C0040414 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref GARD:8549 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref MESH:D020331 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref NCI:C84893 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 semapv:UnspecifiedMatching -DOID:13501 Moebius syndrome oboInOwl:hasDbXref UMLS_CUI:C0221060 semapv:UnspecifiedMatching +DOID:13501 Moebius syndrome oboInOwl:hasDbXref UMLS:C0221060 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome skos:exactMatch OMIM:157900 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref ICD10CM:N30.3 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref ICD9CM:595.3 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref NCI:C123175 semapv:UnspecifiedMatching -DOID:13507 trigonitis oboInOwl:hasDbXref UMLS_CUI:C1261278 semapv:UnspecifiedMatching +DOID:13507 trigonitis oboInOwl:hasDbXref UMLS:C1261278 semapv:UnspecifiedMatching DOID:13514 venous tributary occlusion of retina oboInOwl:hasDbXref ICD9CM:362.36 semapv:UnspecifiedMatching -DOID:13514 venous tributary occlusion of retina oboInOwl:hasDbXref UMLS_CUI:C0154842 semapv:UnspecifiedMatching +DOID:13514 venous tributary occlusion of retina oboInOwl:hasDbXref UMLS:C0154842 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref GARD:7830 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD10CM:Q85.1 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD9CM:759.5 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref MESH:D014402 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref NCI:C3424 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref OMIMPS:191100 semapv:UnspecifiedMatching -DOID:13515 tuberous sclerosis oboInOwl:hasDbXref UMLS_CUI:C0041341 semapv:UnspecifiedMatching +DOID:13515 tuberous sclerosis oboInOwl:hasDbXref UMLS:C0041341 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis skos:exactMatch OMIMPS:191100 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref MESH:D010254 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref NCI:C26843 semapv:UnspecifiedMatching -DOID:1352 paranasal sinus disease oboInOwl:hasDbXref UMLS_CUI:C0030469 semapv:UnspecifiedMatching +DOID:1352 paranasal sinus disease oboInOwl:hasDbXref UMLS:C0030469 semapv:UnspecifiedMatching DOID:13520 neonatal infective mastitis oboInOwl:hasDbXref ICD10CM:P39.0 semapv:UnspecifiedMatching DOID:13520 neonatal infective mastitis oboInOwl:hasDbXref ICD9CM:771.5 semapv:UnspecifiedMatching -DOID:13520 neonatal infective mastitis oboInOwl:hasDbXref UMLS_CUI:C0158948 semapv:UnspecifiedMatching +DOID:13520 neonatal infective mastitis oboInOwl:hasDbXref UMLS:C0158948 semapv:UnspecifiedMatching DOID:13521 tetanus neonatorum oboInOwl:hasDbXref ICD10CM:A33 semapv:UnspecifiedMatching DOID:13521 tetanus neonatorum oboInOwl:hasDbXref ICD9CM:771.3 semapv:UnspecifiedMatching DOID:13521 tetanus neonatorum oboInOwl:hasDbXref NCI:C116814 semapv:UnspecifiedMatching -DOID:13521 tetanus neonatorum oboInOwl:hasDbXref UMLS_CUI:C0343312 semapv:UnspecifiedMatching +DOID:13521 tetanus neonatorum oboInOwl:hasDbXref UMLS:C0343312 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref GARD:3283 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref ICD10CM:B74.3 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref ICD9CM:125.2 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref MESH:D008118 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref NCI:C34784 semapv:UnspecifiedMatching -DOID:13523 loiasis oboInOwl:hasDbXref UMLS_CUI:C0023968 semapv:UnspecifiedMatching +DOID:13523 loiasis oboInOwl:hasDbXref UMLS:C0023968 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref GARD:4155 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD9CM:756.52 semapv:UnspecifiedMatching @@ -22371,11 +22679,11 @@ DOID:13533 osteopetrosis oboInOwl:hasDbXref NCI:C26840 semapv:UnspecifiedMatchin DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:259700 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:607634 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref ORDO:667 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref UMLS_CUI:C0029454 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref UMLS:C0029454 semapv:UnspecifiedMatching DOID:13534 purulent labyrinthitis oboInOwl:hasDbXref ICD9CM:386.33 semapv:UnspecifiedMatching -DOID:13534 purulent labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155506 semapv:UnspecifiedMatching +DOID:13534 purulent labyrinthitis oboInOwl:hasDbXref UMLS:C0155506 semapv:UnspecifiedMatching DOID:13538 cornea squamous cell carcinoma oboInOwl:hasDbXref NCI:C4552 semapv:UnspecifiedMatching -DOID:13538 cornea squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346366 semapv:UnspecifiedMatching +DOID:13538 cornea squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0346366 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.3 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.0 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref MESH:D006961 semapv:UnspecifiedMatching @@ -22384,94 +22692,94 @@ DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 semapv:Unspecified DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ORDO:99879 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020502 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref UMLS:C0020502 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref ICD10CM:H40.12 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref ICD9CM:365.12 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref MESH:D057066 semapv:UnspecifiedMatching -DOID:13544 low tension glaucoma oboInOwl:hasDbXref UMLS_CUI:C0152136 semapv:UnspecifiedMatching +DOID:13544 low tension glaucoma oboInOwl:hasDbXref UMLS:C0152136 semapv:UnspecifiedMatching DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref ICD10CM:G21 semapv:UnspecifiedMatching DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref ICD9CM:332.1 semapv:UnspecifiedMatching DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref MESH:D010302 semapv:UnspecifiedMatching DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref NCI:C34899 semapv:UnspecifiedMatching -DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref UMLS_CUI:C0030569 semapv:UnspecifiedMatching +DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref UMLS:C0030569 semapv:UnspecifiedMatching DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref ICD10CM:H40.23 semapv:UnspecifiedMatching DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.21 semapv:UnspecifiedMatching -DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154945 semapv:UnspecifiedMatching +DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref UMLS:C0154945 semapv:UnspecifiedMatching DOID:1355 paranasal sinus lymphoma oboInOwl:hasDbXref NCI:C6068 semapv:UnspecifiedMatching -DOID:1355 paranasal sinus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335339 semapv:UnspecifiedMatching +DOID:1355 paranasal sinus lymphoma oboInOwl:hasDbXref UMLS:C1335339 semapv:UnspecifiedMatching DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref MESH:D015812 semapv:UnspecifiedMatching DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref NCI:C34639 semapv:UnspecifiedMatching -DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017605 semapv:UnspecifiedMatching +DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref UMLS:C0017605 semapv:UnspecifiedMatching DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref ICD10CM:D25.2 semapv:UnspecifiedMatching DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref ICD9CM:218.2 semapv:UnspecifiedMatching -DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref UMLS_CUI:C0153995 semapv:UnspecifiedMatching +DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref UMLS:C0153995 semapv:UnspecifiedMatching DOID:13561 optic disk drusen oboInOwl:hasDbXref ICD10CM:H47.32 semapv:UnspecifiedMatching DOID:13561 optic disk drusen oboInOwl:hasDbXref ICD9CM:377.21 semapv:UnspecifiedMatching DOID:13561 optic disk drusen oboInOwl:hasDbXref MESH:D015594 semapv:UnspecifiedMatching -DOID:13561 optic disk drusen oboInOwl:hasDbXref UMLS_CUI:C0029128 semapv:UnspecifiedMatching +DOID:13561 optic disk drusen oboInOwl:hasDbXref UMLS:C0029128 semapv:UnspecifiedMatching DOID:13564 aspergillosis oboInOwl:hasDbXref GARD:5856 semapv:UnspecifiedMatching DOID:13564 aspergillosis oboInOwl:hasDbXref ICD10CM:B44 semapv:UnspecifiedMatching DOID:13564 aspergillosis oboInOwl:hasDbXref ICD9CM:117.3 semapv:UnspecifiedMatching DOID:13564 aspergillosis oboInOwl:hasDbXref MESH:D001228 semapv:UnspecifiedMatching DOID:13564 aspergillosis oboInOwl:hasDbXref NCI:C2886 semapv:UnspecifiedMatching -DOID:13564 aspergillosis oboInOwl:hasDbXref UMLS_CUI:C0004030 semapv:UnspecifiedMatching +DOID:13564 aspergillosis oboInOwl:hasDbXref UMLS:C0004030 semapv:UnspecifiedMatching DOID:13564 aspergillosis skos:exactMatch MESH:D001228 semapv:UnspecifiedMatching DOID:13565 neuroaspergillosis oboInOwl:hasDbXref MESH:D020953 semapv:UnspecifiedMatching -DOID:13565 neuroaspergillosis oboInOwl:hasDbXref UMLS_CUI:C0752342 semapv:UnspecifiedMatching +DOID:13565 neuroaspergillosis oboInOwl:hasDbXref UMLS:C0752342 semapv:UnspecifiedMatching DOID:13565 neuroaspergillosis skos:exactMatch MESH:D020953 semapv:UnspecifiedMatching DOID:13566 tibial collateral ligament bursitis oboInOwl:hasDbXref ICD9CM:726.62 semapv:UnspecifiedMatching -DOID:13566 tibial collateral ligament bursitis oboInOwl:hasDbXref UMLS_CUI:C0158315 semapv:UnspecifiedMatching +DOID:13566 tibial collateral ligament bursitis oboInOwl:hasDbXref UMLS:C0158315 semapv:UnspecifiedMatching DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref ICD10CM:C31.0 semapv:UnspecifiedMatching DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref ICD9CM:160.2 semapv:UnspecifiedMatching DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref NCI:C3540 semapv:UnspecifiedMatching DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref NCI:C9332 semapv:UnspecifiedMatching -DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153476 semapv:UnspecifiedMatching -DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0740487 semapv:UnspecifiedMatching +DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref UMLS:C0153476 semapv:UnspecifiedMatching +DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref UMLS:C0740487 semapv:UnspecifiedMatching DOID:13574 cortical senile cataract oboInOwl:hasDbXref ICD9CM:366.15 semapv:UnspecifiedMatching -DOID:13574 cortical senile cataract oboInOwl:hasDbXref UMLS_CUI:C0154980 semapv:UnspecifiedMatching +DOID:13574 cortical senile cataract oboInOwl:hasDbXref UMLS:C0154980 semapv:UnspecifiedMatching DOID:13575 non-renal secondary hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.02 semapv:UnspecifiedMatching -DOID:13575 non-renal secondary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C1456268 semapv:UnspecifiedMatching +DOID:13575 non-renal secondary hyperparathyroidism oboInOwl:hasDbXref UMLS:C1456268 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref ICD10CM:O43.02 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref MESH:D005330 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref NCI:C113824 semapv:UnspecifiedMatching -DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref UMLS_CUI:C2909036 semapv:UnspecifiedMatching +DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref UMLS:C2909036 semapv:UnspecifiedMatching DOID:13579 kwashiorkor oboInOwl:hasDbXref ICD10CM:E40 semapv:UnspecifiedMatching DOID:13579 kwashiorkor oboInOwl:hasDbXref ICD9CM:260 semapv:UnspecifiedMatching DOID:13579 kwashiorkor oboInOwl:hasDbXref MESH:D007732 semapv:UnspecifiedMatching -DOID:13579 kwashiorkor oboInOwl:hasDbXref UMLS_CUI:C0022806 semapv:UnspecifiedMatching +DOID:13579 kwashiorkor oboInOwl:hasDbXref UMLS:C0022806 semapv:UnspecifiedMatching DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref MESH:D008444 semapv:UnspecifiedMatching DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref NCI:C3219 semapv:UnspecifiedMatching -DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0024958 semapv:UnspecifiedMatching +DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0024958 semapv:UnspecifiedMatching DOID:13580 cholestasis oboInOwl:hasDbXref ICD10CM:K83.1 semapv:UnspecifiedMatching DOID:13580 cholestasis oboInOwl:hasDbXref ICD9CM:576.2 semapv:UnspecifiedMatching DOID:13580 cholestasis oboInOwl:hasDbXref MESH:D002779 semapv:UnspecifiedMatching DOID:13580 cholestasis oboInOwl:hasDbXref NCI:C83006 semapv:UnspecifiedMatching -DOID:13580 cholestasis oboInOwl:hasDbXref UMLS_CUI:C0008370 semapv:UnspecifiedMatching +DOID:13580 cholestasis oboInOwl:hasDbXref UMLS:C0008370 semapv:UnspecifiedMatching DOID:13585 alveolar periostitis oboInOwl:hasDbXref ICD10CM:M27.3 semapv:UnspecifiedMatching DOID:13585 alveolar periostitis oboInOwl:hasDbXref ICD9CM:526.5 semapv:UnspecifiedMatching DOID:13585 alveolar periostitis oboInOwl:hasDbXref MESH:D004368 semapv:UnspecifiedMatching -DOID:13585 alveolar periostitis oboInOwl:hasDbXref UMLS_CUI:C0013240 semapv:UnspecifiedMatching +DOID:13585 alveolar periostitis oboInOwl:hasDbXref UMLS:C0013240 semapv:UnspecifiedMatching DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref ICD10CM:N97.2 semapv:UnspecifiedMatching DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref ICD9CM:628.3 semapv:UnspecifiedMatching -DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref UMLS_CUI:C0156416 semapv:UnspecifiedMatching +DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref UMLS:C0156416 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref GARD:6316 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref ICD10CM:O15 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref MESH:D004461 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref NCI:C87167 semapv:UnspecifiedMatching -DOID:13593 eclampsia oboInOwl:hasDbXref UMLS_CUI:C0013537 semapv:UnspecifiedMatching +DOID:13593 eclampsia oboInOwl:hasDbXref UMLS:C0013537 semapv:UnspecifiedMatching DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40274 semapv:UnspecifiedMatching DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40276 semapv:UnspecifiedMatching DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40278 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1512974 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519918 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519924 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS:C1512974 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS:C1519918 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS:C1519924 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref ICD10CM:C31.2 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref ICD9CM:160.4 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref NCI:C3542 semapv:UnspecifiedMatching -DOID:1360 frontal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153478 semapv:UnspecifiedMatching +DOID:1360 frontal sinus cancer oboInOwl:hasDbXref UMLS:C0153478 semapv:UnspecifiedMatching DOID:13603 obstructive jaundice oboInOwl:hasDbXref MESH:D041781 semapv:UnspecifiedMatching DOID:13603 obstructive jaundice oboInOwl:hasDbXref NCI:C34742 semapv:UnspecifiedMatching -DOID:13603 obstructive jaundice oboInOwl:hasDbXref UMLS_CUI:C0022354 semapv:UnspecifiedMatching +DOID:13603 obstructive jaundice oboInOwl:hasDbXref UMLS:C0022354 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref GARD:12010 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref ICD10CM:Q44.2 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref ICD9CM:751.61 semapv:UnspecifiedMatching @@ -22479,231 +22787,231 @@ DOID:13608 biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMat DOID:13608 biliary atresia oboInOwl:hasDbXref NCI:C34421 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref OMIM:210500 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref ORDO:30391 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref UMLS_CUI:C0005411 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref UMLS:C0005411 semapv:UnspecifiedMatching DOID:13608 biliary atresia skos:exactMatch OMIM:210500 semapv:UnspecifiedMatching DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref NCI:C4419 semapv:UnspecifiedMatching -DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345672 semapv:UnspecifiedMatching +DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0345672 semapv:UnspecifiedMatching DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref MESH:D001651 semapv:UnspecifiedMatching DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref NCI:C34420 semapv:UnspecifiedMatching -DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0005398 semapv:UnspecifiedMatching +DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0005398 semapv:UnspecifiedMatching DOID:1362 paranasal sinus sarcoma oboInOwl:hasDbXref NCI:C6849 semapv:UnspecifiedMatching -DOID:1362 paranasal sinus sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335342 semapv:UnspecifiedMatching +DOID:1362 paranasal sinus sarcoma oboInOwl:hasDbXref UMLS:C1335342 semapv:UnspecifiedMatching DOID:13620 patent foramen ovale oboInOwl:hasDbXref ICD10CM:Q21.12 semapv:UnspecifiedMatching DOID:13620 patent foramen ovale oboInOwl:hasDbXref MESH:D054092 semapv:UnspecifiedMatching DOID:13620 patent foramen ovale oboInOwl:hasDbXref NCI:C34619 semapv:UnspecifiedMatching -DOID:13620 patent foramen ovale oboInOwl:hasDbXref UMLS_CUI:C0016522 semapv:UnspecifiedMatching +DOID:13620 patent foramen ovale oboInOwl:hasDbXref UMLS:C0016522 semapv:UnspecifiedMatching DOID:13622 campylobacteriosis oboInOwl:hasDbXref MESH:D002169 semapv:UnspecifiedMatching -DOID:13622 campylobacteriosis oboInOwl:hasDbXref UMLS_CUI:C0006818 semapv:UnspecifiedMatching +DOID:13622 campylobacteriosis oboInOwl:hasDbXref UMLS:C0006818 semapv:UnspecifiedMatching DOID:13626 photokeratitis oboInOwl:hasDbXref ICD10CM:H16.13 semapv:UnspecifiedMatching DOID:13626 photokeratitis oboInOwl:hasDbXref ICD9CM:370.24 semapv:UnspecifiedMatching DOID:13626 photokeratitis oboInOwl:hasDbXref NCI:C118750 semapv:UnspecifiedMatching -DOID:13626 photokeratitis oboInOwl:hasDbXref UMLS_CUI:C0155078 semapv:UnspecifiedMatching +DOID:13626 photokeratitis oboInOwl:hasDbXref UMLS:C0155078 semapv:UnspecifiedMatching DOID:13628 favism oboInOwl:hasDbXref ICD10CM:D55.0 semapv:UnspecifiedMatching DOID:13628 favism oboInOwl:hasDbXref MESH:D005236 semapv:UnspecifiedMatching DOID:13628 favism oboInOwl:hasDbXref NCI:C34607 semapv:UnspecifiedMatching -DOID:13628 favism oboInOwl:hasDbXref UMLS_CUI:C0015702 semapv:UnspecifiedMatching +DOID:13628 favism oboInOwl:hasDbXref UMLS:C0015702 semapv:UnspecifiedMatching DOID:13629 dentine erosion oboInOwl:hasDbXref ICD9CM:521.32 semapv:UnspecifiedMatching -DOID:13629 dentine erosion oboInOwl:hasDbXref UMLS_CUI:C1456162 semapv:UnspecifiedMatching +DOID:13629 dentine erosion oboInOwl:hasDbXref UMLS:C1456162 semapv:UnspecifiedMatching DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref ICD10CM:C31.1 semapv:UnspecifiedMatching DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref ICD9CM:160.3 semapv:UnspecifiedMatching DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref NCI:C3541 semapv:UnspecifiedMatching -DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153477 semapv:UnspecifiedMatching +DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref UMLS:C0153477 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref GARD:6425 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref ICD10CM:D61.09 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref MESH:D005199 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref NCI:C62505 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref OMIMPS:227650 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref ORDO:84 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref UMLS_CUI:C0015625 semapv:UnspecifiedMatching +DOID:13636 Fanconi anemia oboInOwl:hasDbXref UMLS:C0015625 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia skos:exactMatch OMIMPS:227650 semapv:UnspecifiedMatching DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref NCI:C4416 semapv:UnspecifiedMatching -DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345668 semapv:UnspecifiedMatching +DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0345668 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref EFO:0004235 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref ICD9CM:365.52 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref MESH:D017889 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref NCI:C129025 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref OMIM:177650 semapv:UnspecifiedMatching -DOID:13641 exfoliation syndrome oboInOwl:hasDbXref UMLS_CUI:C0206368 semapv:UnspecifiedMatching +DOID:13641 exfoliation syndrome oboInOwl:hasDbXref UMLS:C0206368 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome skos:exactMatch MESH:D017889 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome skos:exactMatch OMIM:177650 semapv:UnspecifiedMatching DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref ICD9CM:357.1 semapv:UnspecifiedMatching -DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref UMLS_CUI:C0154759 semapv:UnspecifiedMatching +DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref UMLS:C0154759 semapv:UnspecifiedMatching DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref ICD10CM:H04.52 semapv:UnspecifiedMatching DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref ICD9CM:375.51 semapv:UnspecifiedMatching -DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref UMLS_CUI:C0155243 semapv:UnspecifiedMatching +DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref UMLS:C0155243 semapv:UnspecifiedMatching DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref ICD10CM:H04.56 semapv:UnspecifiedMatching DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref ICD9CM:375.52 semapv:UnspecifiedMatching -DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref UMLS_CUI:C0155244 semapv:UnspecifiedMatching +DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref UMLS:C0155244 semapv:UnspecifiedMatching DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref ICD10CM:H04.54 semapv:UnspecifiedMatching DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref ICD9CM:375.53 semapv:UnspecifiedMatching -DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref UMLS_CUI:C0155245 semapv:UnspecifiedMatching +DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref UMLS:C0155245 semapv:UnspecifiedMatching DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref ICD10CM:H04.55 semapv:UnspecifiedMatching DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref ICD9CM:375.56 semapv:UnspecifiedMatching -DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref UMLS_CUI:C0155248 semapv:UnspecifiedMatching +DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref UMLS:C0155248 semapv:UnspecifiedMatching DOID:13656 gastrin secretion abnormality oboInOwl:hasDbXref ICD9CM:251.5 semapv:UnspecifiedMatching -DOID:13656 gastrin secretion abnormality oboInOwl:hasDbXref UMLS_CUI:C0000774 semapv:UnspecifiedMatching +DOID:13656 gastrin secretion abnormality oboInOwl:hasDbXref UMLS:C0000774 semapv:UnspecifiedMatching DOID:13658 infective urethral stricture oboInOwl:hasDbXref ICD9CM:598.01 semapv:UnspecifiedMatching -DOID:13658 infective urethral stricture oboInOwl:hasDbXref UMLS_CUI:C0156282 semapv:UnspecifiedMatching +DOID:13658 infective urethral stricture oboInOwl:hasDbXref UMLS:C0156282 semapv:UnspecifiedMatching DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref ICD10CM:K62.6 semapv:UnspecifiedMatching DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref ICD9CM:569.41 semapv:UnspecifiedMatching -DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref UMLS_CUI:C0400832 semapv:UnspecifiedMatching +DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref UMLS:C0400832 semapv:UnspecifiedMatching DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref ICD10CM:G04.02 semapv:UnspecifiedMatching DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref MESH:D004673 semapv:UnspecifiedMatching -DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref UMLS_CUI:C0751101 semapv:UnspecifiedMatching +DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref UMLS:C0751101 semapv:UnspecifiedMatching DOID:13676 posterior scleritis oboInOwl:hasDbXref ICD10CM:H15.03 semapv:UnspecifiedMatching DOID:13676 posterior scleritis oboInOwl:hasDbXref ICD9CM:379.07 semapv:UnspecifiedMatching -DOID:13676 posterior scleritis oboInOwl:hasDbXref UMLS_CUI:C0155357 semapv:UnspecifiedMatching +DOID:13676 posterior scleritis oboInOwl:hasDbXref UMLS:C0155357 semapv:UnspecifiedMatching DOID:13677 SAPHO syndrome oboInOwl:hasDbXref GARD:7606 semapv:UnspecifiedMatching DOID:13677 SAPHO syndrome oboInOwl:hasDbXref MESH:D020083 semapv:UnspecifiedMatching DOID:13677 SAPHO syndrome oboInOwl:hasDbXref NCI:C119049 semapv:UnspecifiedMatching -DOID:13677 SAPHO syndrome oboInOwl:hasDbXref UMLS_CUI:C0263859 semapv:UnspecifiedMatching +DOID:13677 SAPHO syndrome oboInOwl:hasDbXref UMLS:C0263859 semapv:UnspecifiedMatching DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref ICD10CM:K31.5 semapv:UnspecifiedMatching DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref ICD9CM:537.2 semapv:UnspecifiedMatching -DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref UMLS_CUI:C0156087 semapv:UnspecifiedMatching +DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref UMLS:C0156087 semapv:UnspecifiedMatching DOID:13689 prostate calculus oboInOwl:hasDbXref ICD10CM:N42.0 semapv:UnspecifiedMatching DOID:13689 prostate calculus oboInOwl:hasDbXref ICD9CM:602.0 semapv:UnspecifiedMatching DOID:13689 prostate calculus oboInOwl:hasDbXref NCI:C26936 semapv:UnspecifiedMatching -DOID:13689 prostate calculus oboInOwl:hasDbXref UMLS_CUI:C0149525 semapv:UnspecifiedMatching +DOID:13689 prostate calculus oboInOwl:hasDbXref UMLS:C0149525 semapv:UnspecifiedMatching DOID:13690 acute gonococcal cystitis oboInOwl:hasDbXref ICD9CM:098.11 semapv:UnspecifiedMatching -DOID:13690 acute gonococcal cystitis oboInOwl:hasDbXref UMLS_CUI:C0153191 semapv:UnspecifiedMatching +DOID:13690 acute gonococcal cystitis oboInOwl:hasDbXref UMLS:C0153191 semapv:UnspecifiedMatching DOID:13691 dermoid cyst of skin oboInOwl:hasDbXref NCI:C4632 semapv:UnspecifiedMatching -DOID:13691 dermoid cyst of skin oboInOwl:hasDbXref UMLS_CUI:C0349502 semapv:UnspecifiedMatching +DOID:13691 dermoid cyst of skin oboInOwl:hasDbXref UMLS:C0349502 semapv:UnspecifiedMatching DOID:137 vaginal squamous papilloma oboInOwl:hasDbXref NCI:C6374 semapv:UnspecifiedMatching -DOID:137 vaginal squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1336943 semapv:UnspecifiedMatching +DOID:137 vaginal squamous papilloma oboInOwl:hasDbXref UMLS:C1336943 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref ICD10CM:F52.4 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref ICD9CM:302.75 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref MESH:D061686 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref NCI:C94349 semapv:UnspecifiedMatching -DOID:13709 premature ejaculation oboInOwl:hasDbXref UMLS_CUI:C0033038 semapv:UnspecifiedMatching +DOID:13709 premature ejaculation oboInOwl:hasDbXref UMLS:C0033038 semapv:UnspecifiedMatching DOID:1371 uterine corpus adenomatoid tumor oboInOwl:hasDbXref NCI:C27250 semapv:UnspecifiedMatching -DOID:1371 uterine corpus adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C1336902 semapv:UnspecifiedMatching +DOID:1371 uterine corpus adenomatoid tumor oboInOwl:hasDbXref UMLS:C1336902 semapv:UnspecifiedMatching DOID:13711 dental fluorosis oboInOwl:hasDbXref ICD10CM:K00.3 semapv:UnspecifiedMatching DOID:13711 dental fluorosis oboInOwl:hasDbXref ICD9CM:520.3 semapv:UnspecifiedMatching DOID:13711 dental fluorosis oboInOwl:hasDbXref MESH:D009050 semapv:UnspecifiedMatching DOID:13711 dental fluorosis oboInOwl:hasDbXref NCI:C85059 semapv:UnspecifiedMatching -DOID:13711 dental fluorosis oboInOwl:hasDbXref UMLS_CUI:C0026618 semapv:UnspecifiedMatching +DOID:13711 dental fluorosis oboInOwl:hasDbXref UMLS:C0026618 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref GARD:5818 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref ICD10CM:K00.0 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref ICD9CM:520.0 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref NCI:C172328 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref OMIM:206780 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref UMLS_CUI:C0399352 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching DOID:13714 anodontia skos:exactMatch MESH:D000848 semapv:UnspecifiedMatching DOID:13714 anodontia skos:exactMatch OMIM:206780 semapv:UnspecifiedMatching -DOID:13717 mature cataract oboInOwl:hasDbXref UMLS_CUI:C0152257 semapv:UnspecifiedMatching +DOID:13717 mature cataract oboInOwl:hasDbXref UMLS:C0152257 semapv:UnspecifiedMatching DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref MESH:D020818 semapv:UnspecifiedMatching -DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0752191 semapv:UnspecifiedMatching +DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref UMLS:C0752191 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref GARD:10406 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref ICD10CM:E54 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref MESH:D012614 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref NCI:C35010 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref OMIM:240400 semapv:UnspecifiedMatching -DOID:13724 scurvy oboInOwl:hasDbXref UMLS_CUI:C0036474 semapv:UnspecifiedMatching +DOID:13724 scurvy oboInOwl:hasDbXref UMLS:C0036474 semapv:UnspecifiedMatching DOID:13724 scurvy skos:exactMatch OMIM:240400 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref ICD10CM:E51.1 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref ICD9CM:265.0 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref MESH:D001602 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref NCI:C34418 semapv:UnspecifiedMatching -DOID:13725 beriberi oboInOwl:hasDbXref UMLS_CUI:C0005122 semapv:UnspecifiedMatching +DOID:13725 beriberi oboInOwl:hasDbXref UMLS:C0005122 semapv:UnspecifiedMatching DOID:13725 beriberi skos:exactMatch MESH:D001602 semapv:UnspecifiedMatching DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref ICDO:8930/0 semapv:UnspecifiedMatching DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref NCI:C4262 semapv:UnspecifiedMatching -DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref UMLS_CUI:C0334485 semapv:UnspecifiedMatching +DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref UMLS:C0334485 semapv:UnspecifiedMatching DOID:13731 malignant secondary hypertension oboInOwl:hasDbXref ICD9CM:405.0 semapv:UnspecifiedMatching -DOID:13731 malignant secondary hypertension oboInOwl:hasDbXref UMLS_CUI:C0155617 semapv:UnspecifiedMatching +DOID:13731 malignant secondary hypertension oboInOwl:hasDbXref UMLS:C0155617 semapv:UnspecifiedMatching DOID:13732 panophthalmitis oboInOwl:hasDbXref ICD9CM:360.02 semapv:UnspecifiedMatching DOID:13732 panophthalmitis oboInOwl:hasDbXref MESH:D010202 semapv:UnspecifiedMatching -DOID:13732 panophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0030332 semapv:UnspecifiedMatching +DOID:13732 panophthalmitis oboInOwl:hasDbXref UMLS:C0030332 semapv:UnspecifiedMatching DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref ICD10CM:N71.9 semapv:UnspecifiedMatching DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref ICD9CM:615.9 semapv:UnspecifiedMatching -DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref UMLS_CUI:C0269047 semapv:UnspecifiedMatching +DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref UMLS:C0269047 semapv:UnspecifiedMatching DOID:13738 hepatic infarction oboInOwl:hasDbXref ICD10CM:K76.3 semapv:UnspecifiedMatching DOID:13738 hepatic infarction oboInOwl:hasDbXref ICD9CM:573.4 semapv:UnspecifiedMatching DOID:13738 hepatic infarction oboInOwl:hasDbXref MESH:D000081011 semapv:UnspecifiedMatching -DOID:13738 hepatic infarction oboInOwl:hasDbXref UMLS_CUI:C0151731 semapv:UnspecifiedMatching +DOID:13738 hepatic infarction oboInOwl:hasDbXref UMLS:C0151731 semapv:UnspecifiedMatching DOID:13739 nutmeg liver oboInOwl:hasDbXref ICD10CM:K76.1 semapv:UnspecifiedMatching DOID:13739 nutmeg liver oboInOwl:hasDbXref ICD9CM:573.0 semapv:UnspecifiedMatching -DOID:13739 nutmeg liver oboInOwl:hasDbXref UMLS_CUI:C0156195 semapv:UnspecifiedMatching +DOID:13739 nutmeg liver oboInOwl:hasDbXref UMLS:C0156195 semapv:UnspecifiedMatching DOID:13742 neurofibroma of spinal cord oboInOwl:hasDbXref NCI:C5145 semapv:UnspecifiedMatching -DOID:13742 neurofibroma of spinal cord oboInOwl:hasDbXref UMLS_CUI:C1336047 semapv:UnspecifiedMatching +DOID:13742 neurofibroma of spinal cord oboInOwl:hasDbXref UMLS:C1336047 semapv:UnspecifiedMatching DOID:13743 spinal cord lipoma oboInOwl:hasDbXref NCI:C4619 semapv:UnspecifiedMatching -DOID:13743 spinal cord lipoma oboInOwl:hasDbXref UMLS_CUI:C0347446 semapv:UnspecifiedMatching +DOID:13743 spinal cord lipoma oboInOwl:hasDbXref UMLS:C0347446 semapv:UnspecifiedMatching DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref ICD10CM:P39.3 semapv:UnspecifiedMatching DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref ICD9CM:771.82 semapv:UnspecifiedMatching -DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref UMLS_CUI:C0235815 semapv:UnspecifiedMatching +DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref UMLS:C0235815 semapv:UnspecifiedMatching DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref ICD10CM:H04.22 semapv:UnspecifiedMatching DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref ICD9CM:375.22 semapv:UnspecifiedMatching -DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref UMLS_CUI:C0155234 semapv:UnspecifiedMatching +DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref UMLS:C0155234 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref ICD10CM:H04.2 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref ICD9CM:375.2 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref MESH:D007766 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref NCI:C50552 semapv:UnspecifiedMatching -DOID:13757 excessive tearing oboInOwl:hasDbXref UMLS_CUI:C0152227 semapv:UnspecifiedMatching +DOID:13757 excessive tearing oboInOwl:hasDbXref UMLS:C0152227 semapv:UnspecifiedMatching DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref ICD10CM:B85.3 semapv:UnspecifiedMatching DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref ICD9CM:132.2 semapv:UnspecifiedMatching DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref NCI:C35777 semapv:UnspecifiedMatching -DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref UMLS_CUI:C0030759 semapv:UnspecifiedMatching +DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref UMLS:C0030759 semapv:UnspecifiedMatching DOID:13767 clonorchiasis oboInOwl:hasDbXref ICD10CM:B66.1 semapv:UnspecifiedMatching DOID:13767 clonorchiasis oboInOwl:hasDbXref ICD9CM:121.1 semapv:UnspecifiedMatching DOID:13767 clonorchiasis oboInOwl:hasDbXref MESH:D003003 semapv:UnspecifiedMatching -DOID:13767 clonorchiasis oboInOwl:hasDbXref UMLS_CUI:C0009021 semapv:UnspecifiedMatching +DOID:13767 clonorchiasis oboInOwl:hasDbXref UMLS:C0009021 semapv:UnspecifiedMatching DOID:13768 opisthorchiasis oboInOwl:hasDbXref GARD:9746 semapv:UnspecifiedMatching DOID:13768 opisthorchiasis oboInOwl:hasDbXref ICD10CM:B66.0 semapv:UnspecifiedMatching DOID:13768 opisthorchiasis oboInOwl:hasDbXref ICD9CM:121.0 semapv:UnspecifiedMatching DOID:13768 opisthorchiasis oboInOwl:hasDbXref MESH:D009889 semapv:UnspecifiedMatching -DOID:13768 opisthorchiasis oboInOwl:hasDbXref UMLS_CUI:C0029106 semapv:UnspecifiedMatching +DOID:13768 opisthorchiasis oboInOwl:hasDbXref UMLS:C0029106 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref GARD:5740 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref ICD10CM:E27.1 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref MESH:D000224 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref NCI:C26689 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref OMIM:103230 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref OMIM:240200 semapv:UnspecifiedMatching -DOID:13774 Addison's disease oboInOwl:hasDbXref UMLS_CUI:C0001403 semapv:UnspecifiedMatching +DOID:13774 Addison's disease oboInOwl:hasDbXref UMLS:C0001403 semapv:UnspecifiedMatching DOID:13775 plantar wart oboInOwl:hasDbXref ICD10CM:B07.0 semapv:UnspecifiedMatching DOID:13775 plantar wart oboInOwl:hasDbXref ICD9CM:078.12 semapv:UnspecifiedMatching DOID:13775 plantar wart oboInOwl:hasDbXref NCI:C26913 semapv:UnspecifiedMatching -DOID:13775 plantar wart oboInOwl:hasDbXref UMLS_CUI:C0042548 semapv:UnspecifiedMatching +DOID:13775 plantar wart oboInOwl:hasDbXref UMLS:C0042548 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref GARD:6357 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref NCI:C126877 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref OMIMPS:226400 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref ORDO:302 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS_CUI:C0014522 semapv:UnspecifiedMatching +DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis skos:exactMatch MESH:D004819 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis skos:exactMatch OMIMPS:226400 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref GARD:9522 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref ICD10CM:A57 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref ICD9CM:099.0 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref MESH:D002602 semapv:UnspecifiedMatching -DOID:13778 chancroid oboInOwl:hasDbXref UMLS_CUI:C0007947 semapv:UnspecifiedMatching +DOID:13778 chancroid oboInOwl:hasDbXref UMLS:C0007947 semapv:UnspecifiedMatching DOID:13781 hypermobility syndrome oboInOwl:hasDbXref ICD10CM:M35.7 semapv:UnspecifiedMatching DOID:13781 hypermobility syndrome oboInOwl:hasDbXref ICD9CM:728.5 semapv:UnspecifiedMatching -DOID:13781 hypermobility syndrome oboInOwl:hasDbXref UMLS_CUI:C0152093 semapv:UnspecifiedMatching +DOID:13781 hypermobility syndrome oboInOwl:hasDbXref UMLS:C0152093 semapv:UnspecifiedMatching DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref ICD10CM:H15.82 semapv:UnspecifiedMatching DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref ICD9CM:379.14 semapv:UnspecifiedMatching -DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155362 semapv:UnspecifiedMatching +DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref UMLS:C0155362 semapv:UnspecifiedMatching DOID:13788 equatorial staphyloma oboInOwl:hasDbXref ICD10CM:H15.81 semapv:UnspecifiedMatching DOID:13788 equatorial staphyloma oboInOwl:hasDbXref ICD9CM:379.13 semapv:UnspecifiedMatching -DOID:13788 equatorial staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155361 semapv:UnspecifiedMatching +DOID:13788 equatorial staphyloma oboInOwl:hasDbXref UMLS:C0155361 semapv:UnspecifiedMatching DOID:13789 staphyloma posticum oboInOwl:hasDbXref ICD10CM:H15.83 semapv:UnspecifiedMatching DOID:13789 staphyloma posticum oboInOwl:hasDbXref ICD9CM:379.12 semapv:UnspecifiedMatching -DOID:13789 staphyloma posticum oboInOwl:hasDbXref UMLS_CUI:C0155360 semapv:UnspecifiedMatching +DOID:13789 staphyloma posticum oboInOwl:hasDbXref UMLS:C0155360 semapv:UnspecifiedMatching DOID:13790 acute tympanitis oboInOwl:hasDbXref ICD10CM:H73.0 semapv:UnspecifiedMatching DOID:13790 acute tympanitis oboInOwl:hasDbXref ICD9CM:384.00 semapv:UnspecifiedMatching -DOID:13790 acute tympanitis oboInOwl:hasDbXref UMLS_CUI:C0155460 semapv:UnspecifiedMatching +DOID:13790 acute tympanitis oboInOwl:hasDbXref UMLS:C0155460 semapv:UnspecifiedMatching DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref ICD10CM:H73.01 semapv:UnspecifiedMatching DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref ICD9CM:384.01 semapv:UnspecifiedMatching -DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref UMLS_CUI:C0155461 semapv:UnspecifiedMatching +DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref UMLS:C0155461 semapv:UnspecifiedMatching DOID:13794 anterior scleritis oboInOwl:hasDbXref ICD10CM:H15.01 semapv:UnspecifiedMatching DOID:13794 anterior scleritis oboInOwl:hasDbXref ICD9CM:379.03 semapv:UnspecifiedMatching -DOID:13794 anterior scleritis oboInOwl:hasDbXref UMLS_CUI:C0155353 semapv:UnspecifiedMatching +DOID:13794 anterior scleritis oboInOwl:hasDbXref UMLS:C0155353 semapv:UnspecifiedMatching DOID:13799 female breast central part cancer oboInOwl:hasDbXref ICD10CM:C50.11 semapv:UnspecifiedMatching DOID:13799 female breast central part cancer oboInOwl:hasDbXref ICD9CM:174.1 semapv:UnspecifiedMatching -DOID:13799 female breast central part cancer oboInOwl:hasDbXref UMLS_CUI:C0153549 semapv:UnspecifiedMatching +DOID:13799 female breast central part cancer oboInOwl:hasDbXref UMLS:C0153549 semapv:UnspecifiedMatching DOID:138 vaginal squamous tumor oboInOwl:hasDbXref NCI:C40242 semapv:UnspecifiedMatching -DOID:138 vaginal squamous tumor oboInOwl:hasDbXref UMLS_CUI:C1519931 semapv:UnspecifiedMatching +DOID:138 vaginal squamous tumor oboInOwl:hasDbXref UMLS:C1519931 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref EFO:0004230 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref GARD:11981 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref ICD10CM:C54.1 semapv:UnspecifiedMatching @@ -22712,123 +23020,123 @@ DOID:1380 endometrial cancer oboInOwl:hasDbXref MESH:D016889 semapv:UnspecifiedM DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C27815 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C3012 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref OMIM:608089 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C0007103 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C0014170 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS:C0007103 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS:C0014170 semapv:UnspecifiedMatching DOID:1380 endometrial cancer skos:exactMatch OMIM:608089 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref GARD:6777 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD10CM:A74.0 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD9CM:077.0 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref MESH:D003235 semapv:UnspecifiedMatching -DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009770 semapv:UnspecifiedMatching +DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref UMLS:C0009770 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref ICD9CM:077.2 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref MESH:D000258 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref NCI:C34924 semapv:UnspecifiedMatching -DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref UMLS_CUI:C0031351 semapv:UnspecifiedMatching +DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref UMLS:C0031351 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref ICD10CM:E78.49 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref MESH:D006950 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref NCI:C35637 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020474 semapv:UnspecifiedMatching +DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref UMLS:C0020474 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia skos:exactMatch OMIM:144250 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref GARD:6462 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD10CM:L75.2 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD9CM:705.82 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref MESH:D005588 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref NCI:C84716 semapv:UnspecifiedMatching -DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref UMLS_CUI:C0016632 semapv:UnspecifiedMatching +DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref UMLS:C0016632 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref GARD:10416 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.01 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref MESH:D006938 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref NCI:C34704 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ORDO:406 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref UMLS_CUI:C0020445 semapv:UnspecifiedMatching +DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref UMLS:C0020445 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia skos:exactMatch OMIM:143890 semapv:UnspecifiedMatching DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref ICD9CM:621.1 semapv:UnspecifiedMatching -DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref UMLS_CUI:C0156370 semapv:UnspecifiedMatching -DOID:13812 adhesions of uterus oboInOwl:hasDbXref UMLS_CUI:C0241593 semapv:UnspecifiedMatching +DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref UMLS:C0156370 semapv:UnspecifiedMatching +DOID:13812 adhesions of uterus oboInOwl:hasDbXref UMLS:C0241593 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref ICD10CM:G52.3 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref ICD9CM:352.5 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref MESH:D020437 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref NCI:C26954 semapv:UnspecifiedMatching -DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152181 semapv:UnspecifiedMatching +DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref UMLS:C0152181 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref GARD:9545 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref ICD10CM:A55 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref ICD9CM:099.1 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref MESH:D008219 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref NCI:C26822 semapv:UnspecifiedMatching -DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref UMLS_CUI:C0024286 semapv:UnspecifiedMatching +DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref UMLS:C0024286 semapv:UnspecifiedMatching DOID:1382 miliaria oboInOwl:hasDbXref ICD10CM:L74.3 semapv:UnspecifiedMatching DOID:1382 miliaria oboInOwl:hasDbXref MESH:D008883 semapv:UnspecifiedMatching DOID:1382 miliaria oboInOwl:hasDbXref NCI:C34820 semapv:UnspecifiedMatching -DOID:1382 miliaria oboInOwl:hasDbXref UMLS_CUI:C0026113 semapv:UnspecifiedMatching +DOID:1382 miliaria oboInOwl:hasDbXref UMLS:C0026113 semapv:UnspecifiedMatching DOID:13822 tetanic cataract oboInOwl:hasDbXref ICD9CM:366.42 semapv:UnspecifiedMatching DOID:13822 tetanic cataract oboInOwl:hasDbXref NCI:C35068 semapv:UnspecifiedMatching -DOID:13822 tetanic cataract oboInOwl:hasDbXref UMLS_CUI:C0039613 semapv:UnspecifiedMatching +DOID:13822 tetanic cataract oboInOwl:hasDbXref UMLS:C0039613 semapv:UnspecifiedMatching DOID:13823 parasitic eyelid infestation oboInOwl:hasDbXref ICD9CM:373.6 semapv:UnspecifiedMatching -DOID:13823 parasitic eyelid infestation oboInOwl:hasDbXref UMLS_CUI:C0155183 semapv:UnspecifiedMatching +DOID:13823 parasitic eyelid infestation oboInOwl:hasDbXref UMLS:C0155183 semapv:UnspecifiedMatching DOID:13825 squamous blepharitis oboInOwl:hasDbXref ICD10CM:H01.02 semapv:UnspecifiedMatching DOID:13825 squamous blepharitis oboInOwl:hasDbXref ICD9CM:373.02 semapv:UnspecifiedMatching -DOID:13825 squamous blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155174 semapv:UnspecifiedMatching +DOID:13825 squamous blepharitis oboInOwl:hasDbXref UMLS:C0155174 semapv:UnspecifiedMatching DOID:1383 sweat gland disease oboInOwl:hasDbXref ICD10CM:L74.9 semapv:UnspecifiedMatching DOID:1383 sweat gland disease oboInOwl:hasDbXref ICD9CM:705.9 semapv:UnspecifiedMatching DOID:1383 sweat gland disease oboInOwl:hasDbXref MESH:D013543 semapv:UnspecifiedMatching -DOID:1383 sweat gland disease oboInOwl:hasDbXref UMLS_CUI:C0038986 semapv:UnspecifiedMatching +DOID:1383 sweat gland disease oboInOwl:hasDbXref UMLS:C0038986 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref GARD:7342 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD10CM:Q25.0 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD9CM:747.0 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref MESH:D004374 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref NCI:C84492 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref OMIM:607411 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref UMLS_CUI:C0013274 semapv:UnspecifiedMatching +DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref UMLS:C0013274 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus skos:exactMatch OMIM:607411 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref ICD10CM:G25.9 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref ICD9CM:333.90 semapv:UnspecifiedMatching -DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref UMLS_CUI:C0477355 semapv:UnspecifiedMatching +DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref UMLS:C0477355 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref GARD:5 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref NCI:C84525 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 semapv:UnspecifiedMatching -DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref UMLS_CUI:C0000744 semapv:UnspecifiedMatching +DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref UMLS:C0000744 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia skos:exactMatch MESH:D000012 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia skos:exactMatch OMIM:200100 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref ICD10CM:H15.04 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref ICD9CM:379.05 semapv:UnspecifiedMatching -DOID:13861 scleroperikeratitis oboInOwl:hasDbXref UMLS_CUI:C0155355 semapv:UnspecifiedMatching +DOID:13861 scleroperikeratitis oboInOwl:hasDbXref UMLS:C0155355 semapv:UnspecifiedMatching DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.21 semapv:UnspecifiedMatching DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.22 semapv:UnspecifiedMatching -DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154946 semapv:UnspecifiedMatching +DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref UMLS:C0154946 semapv:UnspecifiedMatching DOID:13864 trochlear nerve disease oboInOwl:hasDbXref ICD10CM:H49.1 semapv:UnspecifiedMatching DOID:13864 trochlear nerve disease oboInOwl:hasDbXref ICD9CM:378.53 semapv:UnspecifiedMatching DOID:13864 trochlear nerve disease oboInOwl:hasDbXref MESH:D020432 semapv:UnspecifiedMatching DOID:13864 trochlear nerve disease oboInOwl:hasDbXref NCI:C180994 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0271375 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0423092 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0751939 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS:C0271375 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS:C0423092 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS:C0751939 semapv:UnspecifiedMatching DOID:13865 facial neuralgia oboInOwl:hasDbXref MESH:D005156 semapv:UnspecifiedMatching -DOID:13865 facial neuralgia oboInOwl:hasDbXref UMLS_CUI:C0015467 semapv:UnspecifiedMatching +DOID:13865 facial neuralgia oboInOwl:hasDbXref UMLS:C0015467 semapv:UnspecifiedMatching DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref ICD10CM:G52.7 semapv:UnspecifiedMatching DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref ICD9CM:352.6 semapv:UnspecifiedMatching -DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0154733 semapv:UnspecifiedMatching +DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref UMLS:C0154733 semapv:UnspecifiedMatching DOID:13867 focal labyrinthitis oboInOwl:hasDbXref ICD9CM:386.32 semapv:UnspecifiedMatching -DOID:13867 focal labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155505 semapv:UnspecifiedMatching +DOID:13867 focal labyrinthitis oboInOwl:hasDbXref UMLS:C0155505 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref ICD10CM:F52.0 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref ICD9CM:302.71 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref MESH:D020018 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref NCI:C94337 semapv:UnspecifiedMatching -DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref UMLS_CUI:C0020594 semapv:UnspecifiedMatching +DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref UMLS:C0020594 semapv:UnspecifiedMatching DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref GARD:8394 semapv:UnspecifiedMatching DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref ICD9CM:272.5 semapv:UnspecifiedMatching DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref MESH:D007009 semapv:UnspecifiedMatching -DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref UMLS_CUI:C0020623 semapv:UnspecifiedMatching +DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref UMLS:C0020623 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref GARD:7731 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref NCI:C85182 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref OMIM:205400 semapv:UnspecifiedMatching -DOID:1388 Tangier disease oboInOwl:hasDbXref UMLS_CUI:C0039292 semapv:UnspecifiedMatching +DOID:1388 Tangier disease oboInOwl:hasDbXref UMLS:C0039292 semapv:UnspecifiedMatching DOID:1388 Tangier disease skos:exactMatch MESH:D013631 semapv:UnspecifiedMatching DOID:1388 Tangier disease skos:exactMatch OMIM:205400 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ICD10CM:I49.5 semapv:UnspecifiedMatching @@ -22837,72 +23145,72 @@ DOID:13884 sick sinus syndrome oboInOwl:hasDbXref NCI:C62244 semapv:UnspecifiedM DOID:13884 sick sinus syndrome oboInOwl:hasDbXref OMIM:163800 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref OMIM:608567 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ORDO:166282 semapv:UnspecifiedMatching -DOID:13884 sick sinus syndrome oboInOwl:hasDbXref UMLS_CUI:C0037052 semapv:UnspecifiedMatching +DOID:13884 sick sinus syndrome oboInOwl:hasDbXref UMLS:C0037052 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome skos:exactMatch MESH:D012804 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref ICD10CM:A69.22 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref MESH:D011115 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref NCI:C26951 semapv:UnspecifiedMatching -DOID:1389 polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0152025 semapv:UnspecifiedMatching +DOID:1389 polyneuropathy oboInOwl:hasDbXref UMLS:C0152025 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref ICD10CM:J67.2 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref ICD9CM:495.2 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref MESH:D001716 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref NCI:C34425 semapv:UnspecifiedMatching -DOID:13891 bird fancier's lung oboInOwl:hasDbXref UMLS_CUI:C0005592 semapv:UnspecifiedMatching +DOID:13891 bird fancier's lung oboInOwl:hasDbXref UMLS:C0005592 semapv:UnspecifiedMatching DOID:139 squamous cell papilloma oboInOwl:hasDbXref ICDO:8052/0 semapv:UnspecifiedMatching DOID:139 squamous cell papilloma oboInOwl:hasDbXref MESH:D010212 semapv:UnspecifiedMatching DOID:139 squamous cell papilloma oboInOwl:hasDbXref NCI:C3712 semapv:UnspecifiedMatching -DOID:139 squamous cell papilloma oboInOwl:hasDbXref UMLS_CUI:C0205874 semapv:UnspecifiedMatching +DOID:139 squamous cell papilloma oboInOwl:hasDbXref UMLS:C0205874 semapv:UnspecifiedMatching DOID:1390 hypobetalipoproteinemia oboInOwl:hasDbXref MESH:D006995 semapv:UnspecifiedMatching -DOID:1390 hypobetalipoproteinemia oboInOwl:hasDbXref UMLS_CUI:C0020597 semapv:UnspecifiedMatching +DOID:1390 hypobetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020597 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref ICD10CM:B36.2 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref ICD9CM:111.2 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref MESH:D010854 semapv:UnspecifiedMatching -DOID:13902 white piedra oboInOwl:hasDbXref UMLS_CUI:C0031898 semapv:UnspecifiedMatching -DOID:13902 white piedra oboInOwl:hasDbXref UMLS_CUI:C0040249 semapv:UnspecifiedMatching +DOID:13902 white piedra oboInOwl:hasDbXref UMLS:C0031898 semapv:UnspecifiedMatching +DOID:13902 white piedra oboInOwl:hasDbXref UMLS:C0040249 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref ICD9CM:368.52 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref OMIM:303800 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref ORDO:319698 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness oboInOwl:hasDbXref UMLS_CUI:C0155016 semapv:UnspecifiedMatching +DOID:13909 red-green color blindness oboInOwl:hasDbXref UMLS:C0155016 semapv:UnspecifiedMatching DOID:13909 red-green color blindness skos:exactMatch OMIM:303800 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref MESH:D007863 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref NCI:C84813 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching -DOID:1391 Norum disease oboInOwl:hasDbXref UMLS_CUI:C0023195 semapv:UnspecifiedMatching +DOID:1391 Norum disease oboInOwl:hasDbXref UMLS:C0023195 semapv:UnspecifiedMatching DOID:1391 Norum disease skos:exactMatch OMIM:245900 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref ICD9CM:368.51 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref OMIM:303900 semapv:UnspecifiedMatching -DOID:13910 red color blindness oboInOwl:hasDbXref UMLS_CUI:C0155015 semapv:UnspecifiedMatching +DOID:13910 red color blindness oboInOwl:hasDbXref UMLS:C0155015 semapv:UnspecifiedMatching DOID:13910 red color blindness skos:exactMatch OMIM:303900 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ICD10CM:H53.51 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ICD9CM:368.54 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref NCI:C84528 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ORDO:49382 semapv:UnspecifiedMatching -DOID:13911 achromatopsia oboInOwl:hasDbXref UMLS_CUI:C0152200 semapv:UnspecifiedMatching +DOID:13911 achromatopsia oboInOwl:hasDbXref UMLS:C0152200 semapv:UnspecifiedMatching DOID:13912 acquired color blindness oboInOwl:hasDbXref ICD10CM:H53.52 semapv:UnspecifiedMatching DOID:13912 acquired color blindness oboInOwl:hasDbXref ICD9CM:368.55 semapv:UnspecifiedMatching DOID:13912 acquired color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13912 acquired color blindness oboInOwl:hasDbXref NCI:C118712 semapv:UnspecifiedMatching -DOID:13912 acquired color blindness oboInOwl:hasDbXref UMLS_CUI:C0155018 semapv:UnspecifiedMatching +DOID:13912 acquired color blindness oboInOwl:hasDbXref UMLS:C0155018 semapv:UnspecifiedMatching DOID:13913 lumbosacral plexus lesion oboInOwl:hasDbXref ICD9CM:353.1 semapv:UnspecifiedMatching -DOID:13913 lumbosacral plexus lesion oboInOwl:hasDbXref UMLS_CUI:C0154735 semapv:UnspecifiedMatching +DOID:13913 lumbosacral plexus lesion oboInOwl:hasDbXref UMLS:C0154735 semapv:UnspecifiedMatching DOID:13918 somatization disorder oboInOwl:hasDbXref ICD10CM:F45.0 semapv:UnspecifiedMatching DOID:13918 somatization disorder oboInOwl:hasDbXref ICD9CM:300.81 semapv:UnspecifiedMatching DOID:13918 somatization disorder oboInOwl:hasDbXref MESH:D013001 semapv:UnspecifiedMatching -DOID:13918 somatization disorder oboInOwl:hasDbXref UMLS_CUI:C0520482 semapv:UnspecifiedMatching +DOID:13918 somatization disorder oboInOwl:hasDbXref UMLS:C0520482 semapv:UnspecifiedMatching DOID:13919 irregular astigmatism oboInOwl:hasDbXref ICD10CM:H52.21 semapv:UnspecifiedMatching DOID:13919 irregular astigmatism oboInOwl:hasDbXref ICD9CM:367.22 semapv:UnspecifiedMatching -DOID:13919 irregular astigmatism oboInOwl:hasDbXref UMLS_CUI:C0152194 semapv:UnspecifiedMatching +DOID:13919 irregular astigmatism oboInOwl:hasDbXref UMLS:C0152194 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref ICD9CM:377.24 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref MESH:C562401 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref OMIM:177800 semapv:UnspecifiedMatching -DOID:1392 pseudopapilledema oboInOwl:hasDbXref UMLS_CUI:C0155300 semapv:UnspecifiedMatching +DOID:1392 pseudopapilledema oboInOwl:hasDbXref UMLS:C0155300 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema skos:exactMatch OMIM:177800 semapv:UnspecifiedMatching DOID:13921 bacterial esophagitis oboInOwl:hasDbXref NCI:C27106 semapv:UnspecifiedMatching -DOID:13921 bacterial esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341108 semapv:UnspecifiedMatching +DOID:13921 bacterial esophagitis oboInOwl:hasDbXref UMLS:C0341108 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref EFO:0004232 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD10CM:K20.0 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD9CM:530.13 semapv:UnspecifiedMatching @@ -22911,44 +23219,44 @@ DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref NCI:C27105 semapv:Unspeci DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:610247 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:613412 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ORDO:73247 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341106 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref UMLS:C0341106 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref GARD:5736 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref ICD10CM:A69.1 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref ICD9CM:101 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref MESH:D005892 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref NCI:C34637 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS_CUI:C0017575 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS_CUI:C1527368 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS:C0017575 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS:C1527368 semapv:UnspecifiedMatching DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref MESH:D007767 semapv:UnspecifiedMatching DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref NCI:C34757 semapv:UnspecifiedMatching -DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref UMLS_CUI:C0022906 semapv:UnspecifiedMatching +DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref UMLS:C0022906 semapv:UnspecifiedMatching DOID:1393 visual pathway disease oboInOwl:hasDbXref ICD10CM:H47.9 semapv:UnspecifiedMatching DOID:1393 visual pathway disease oboInOwl:hasDbXref NCI:C35342 semapv:UnspecifiedMatching -DOID:1393 visual pathway disease oboInOwl:hasDbXref UMLS_CUI:C0155287 semapv:UnspecifiedMatching +DOID:1393 visual pathway disease oboInOwl:hasDbXref UMLS:C0155287 semapv:UnspecifiedMatching DOID:13934 facial paralysis oboInOwl:hasDbXref ICD10CM:G51.0 semapv:UnspecifiedMatching DOID:13934 facial paralysis oboInOwl:hasDbXref MESH:D005158 semapv:UnspecifiedMatching DOID:13934 facial paralysis oboInOwl:hasDbXref NCI:C26769 semapv:UnspecifiedMatching -DOID:13934 facial paralysis oboInOwl:hasDbXref UMLS_CUI:C0015469 semapv:UnspecifiedMatching +DOID:13934 facial paralysis oboInOwl:hasDbXref UMLS:C0015469 semapv:UnspecifiedMatching DOID:13938 amenorrhea oboInOwl:hasDbXref ICD10CM:N91.2 semapv:UnspecifiedMatching DOID:13938 amenorrhea oboInOwl:hasDbXref ICD9CM:626.0 semapv:UnspecifiedMatching DOID:13938 amenorrhea oboInOwl:hasDbXref MESH:D000568 semapv:UnspecifiedMatching DOID:13938 amenorrhea oboInOwl:hasDbXref NCI:C61443 semapv:UnspecifiedMatching -DOID:13938 amenorrhea oboInOwl:hasDbXref UMLS_CUI:C0002453 semapv:UnspecifiedMatching +DOID:13938 amenorrhea oboInOwl:hasDbXref UMLS:C0002453 semapv:UnspecifiedMatching DOID:13938 amenorrhea skos:exactMatch MESH:D000568 semapv:UnspecifiedMatching DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref ICD9CM:120.0 semapv:UnspecifiedMatching DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref MESH:D012553 semapv:UnspecifiedMatching DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref NCI:C39294 semapv:UnspecifiedMatching -DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0276926 semapv:UnspecifiedMatching +DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref UMLS:C0276926 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref GARD:5915 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref ICD9CM:386.11 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref MESH:D065635 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref OMIM:193007 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref OMIM:613106 semapv:UnspecifiedMatching -DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref UMLS_CUI:C0155502 semapv:UnspecifiedMatching +DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref UMLS:C0155502 semapv:UnspecifiedMatching DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref ICD9CM:098.17 semapv:UnspecifiedMatching -DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref UMLS_CUI:C0275654 semapv:UnspecifiedMatching +DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref UMLS:C0275654 semapv:UnspecifiedMatching DOID:13943 acute gonococcal prostatitis oboInOwl:hasDbXref ICD9CM:098.12 semapv:UnspecifiedMatching -DOID:13943 acute gonococcal prostatitis oboInOwl:hasDbXref UMLS_CUI:C0153192 semapv:UnspecifiedMatching +DOID:13943 acute gonococcal prostatitis oboInOwl:hasDbXref UMLS:C0153192 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref GARD:1049 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref ICD10CM:I67.850 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching @@ -22956,51 +23264,51 @@ DOID:13945 CADASIL oboInOwl:hasDbXref NCI:C84606 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref OMIMPS:125310 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref ORDO:136 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref UMLS_CUI:C0751587 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref UMLS:C0751587 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref ICD10CM:N32.0 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref ICD9CM:596.0 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref MESH:D001748 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref NCI:C79541 semapv:UnspecifiedMatching -DOID:13948 bladder neck obstruction oboInOwl:hasDbXref UMLS_CUI:C0005694 semapv:UnspecifiedMatching +DOID:13948 bladder neck obstruction oboInOwl:hasDbXref UMLS:C0005694 semapv:UnspecifiedMatching DOID:13949 interstitial cystitis oboInOwl:hasDbXref GARD:6787 semapv:UnspecifiedMatching DOID:13949 interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching DOID:13949 interstitial cystitis oboInOwl:hasDbXref NCI:C27189 semapv:UnspecifiedMatching -DOID:13949 interstitial cystitis oboInOwl:hasDbXref UMLS_CUI:C0282488 semapv:UnspecifiedMatching +DOID:13949 interstitial cystitis oboInOwl:hasDbXref UMLS:C0282488 semapv:UnspecifiedMatching DOID:1395 schistosomiasis oboInOwl:hasDbXref GARD:9687 semapv:UnspecifiedMatching DOID:1395 schistosomiasis oboInOwl:hasDbXref ICD9CM:120.8 semapv:UnspecifiedMatching -DOID:1395 schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0029827 semapv:UnspecifiedMatching +DOID:1395 schistosomiasis oboInOwl:hasDbXref UMLS:C0029827 semapv:UnspecifiedMatching DOID:13951 uterine corpus epithelioid leiomyoma oboInOwl:hasDbXref NCI:C40164 semapv:UnspecifiedMatching -DOID:13951 uterine corpus epithelioid leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519850 semapv:UnspecifiedMatching +DOID:13951 uterine corpus epithelioid leiomyoma oboInOwl:hasDbXref UMLS:C1519850 semapv:UnspecifiedMatching DOID:13953 uterine corpus dissecting leiomyoma oboInOwl:hasDbXref NCI:C40172 semapv:UnspecifiedMatching -DOID:13953 uterine corpus dissecting leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519847 semapv:UnspecifiedMatching +DOID:13953 uterine corpus dissecting leiomyoma oboInOwl:hasDbXref UMLS:C1519847 semapv:UnspecifiedMatching DOID:13955 uterus interstitial leiomyoma oboInOwl:hasDbXref ICD10CM:D25.1 semapv:UnspecifiedMatching DOID:13955 uterus interstitial leiomyoma oboInOwl:hasDbXref ICD9CM:218.1 semapv:UnspecifiedMatching -DOID:13955 uterus interstitial leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0153994 semapv:UnspecifiedMatching +DOID:13955 uterus interstitial leiomyoma oboInOwl:hasDbXref UMLS:C0153994 semapv:UnspecifiedMatching DOID:13956 uterine corpus myxoid leiomyoma oboInOwl:hasDbXref NCI:C40166 semapv:UnspecifiedMatching -DOID:13956 uterine corpus myxoid leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519860 semapv:UnspecifiedMatching +DOID:13956 uterine corpus myxoid leiomyoma oboInOwl:hasDbXref UMLS:C1519860 semapv:UnspecifiedMatching DOID:13957 uterine corpus lipoleiomyoma oboInOwl:hasDbXref NCI:C40168 semapv:UnspecifiedMatching -DOID:13957 uterine corpus lipoleiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519856 semapv:UnspecifiedMatching +DOID:13957 uterine corpus lipoleiomyoma oboInOwl:hasDbXref UMLS:C1519856 semapv:UnspecifiedMatching DOID:13958 uterine corpus bizarre leiomyoma oboInOwl:hasDbXref NCI:C40167 semapv:UnspecifiedMatching -DOID:13958 uterine corpus bizarre leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519853 semapv:UnspecifiedMatching +DOID:13958 uterine corpus bizarre leiomyoma oboInOwl:hasDbXref UMLS:C1519853 semapv:UnspecifiedMatching DOID:13963 nuclear senile cataract oboInOwl:hasDbXref ICD9CM:366.16 semapv:UnspecifiedMatching -DOID:13963 nuclear senile cataract oboInOwl:hasDbXref UMLS_CUI:C0271166 semapv:UnspecifiedMatching +DOID:13963 nuclear senile cataract oboInOwl:hasDbXref UMLS:C0271166 semapv:UnspecifiedMatching DOID:13964 Morgagni cataract oboInOwl:hasDbXref ICD9CM:366.18 semapv:UnspecifiedMatching -DOID:13964 Morgagni cataract oboInOwl:hasDbXref UMLS_CUI:C0152258 semapv:UnspecifiedMatching +DOID:13964 Morgagni cataract oboInOwl:hasDbXref UMLS:C0152258 semapv:UnspecifiedMatching DOID:1397 chronic orbital inflammation oboInOwl:hasDbXref ICD10CM:H05.1 semapv:UnspecifiedMatching DOID:1397 chronic orbital inflammation oboInOwl:hasDbXref ICD9CM:376.1 semapv:UnspecifiedMatching -DOID:1397 chronic orbital inflammation oboInOwl:hasDbXref UMLS_CUI:C0155261 semapv:UnspecifiedMatching +DOID:1397 chronic orbital inflammation oboInOwl:hasDbXref UMLS:C0155261 semapv:UnspecifiedMatching DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref ICD10CM:C50.51 semapv:UnspecifiedMatching DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref ICD9CM:174.5 semapv:UnspecifiedMatching -DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153553 semapv:UnspecifiedMatching +DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref UMLS:C0153553 semapv:UnspecifiedMatching DOID:13976 peptic esophagitis oboInOwl:hasDbXref ICD9CM:530.11 semapv:UnspecifiedMatching DOID:13976 peptic esophagitis oboInOwl:hasDbXref MESH:D004942 semapv:UnspecifiedMatching -DOID:13976 peptic esophagitis oboInOwl:hasDbXref UMLS_CUI:C0014869 semapv:UnspecifiedMatching +DOID:13976 peptic esophagitis oboInOwl:hasDbXref UMLS:C0014869 semapv:UnspecifiedMatching DOID:1398 parasitic infectious disease oboInOwl:hasDbXref ICD10CM:H44.12 semapv:UnspecifiedMatching DOID:1398 parasitic infectious disease oboInOwl:hasDbXref ICD9CM:360.13 semapv:UnspecifiedMatching DOID:1398 parasitic infectious disease oboInOwl:hasDbXref NCI:C34587 semapv:UnspecifiedMatching -DOID:1398 parasitic infectious disease oboInOwl:hasDbXref UMLS_CUI:C0014238 semapv:UnspecifiedMatching +DOID:1398 parasitic infectious disease oboInOwl:hasDbXref UMLS:C0014238 semapv:UnspecifiedMatching DOID:1399 primary lacrimal atrophy oboInOwl:hasDbXref ICD9CM:375.13 semapv:UnspecifiedMatching -DOID:1399 primary lacrimal atrophy oboInOwl:hasDbXref UMLS_CUI:C0155229 semapv:UnspecifiedMatching +DOID:1399 primary lacrimal atrophy oboInOwl:hasDbXref UMLS:C0155229 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref GARD:6118 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ICD10CM:Q74.0 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching @@ -23008,20 +23316,20 @@ DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref NCI:C75020 semapv:Unspecif DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:119600 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:216330 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ORDO:1452 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref UMLS_CUI:C0008928 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref UMLS:C0008928 semapv:UnspecifiedMatching DOID:13996 small intestine lymphoma oboInOwl:hasDbXref NCI:C4007 semapv:UnspecifiedMatching -DOID:13996 small intestine lymphoma oboInOwl:hasDbXref UMLS_CUI:C0278805 semapv:UnspecifiedMatching +DOID:13996 small intestine lymphoma oboInOwl:hasDbXref UMLS:C0278805 semapv:UnspecifiedMatching DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref ICD10CM:H10.53 semapv:UnspecifiedMatching DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref ICD9CM:372.22 semapv:UnspecifiedMatching -DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155150 semapv:UnspecifiedMatching +DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref UMLS:C0155150 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref ICD10CM:H04 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref ICD9CM:375 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref MESH:D007766 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref NCI:C26809 semapv:UnspecifiedMatching -DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref UMLS_CUI:C0022904 semapv:UnspecifiedMatching +DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref UMLS:C0022904 semapv:UnspecifiedMatching DOID:14000 rubeosis iridis oboInOwl:hasDbXref ICD10CM:H21.1 semapv:UnspecifiedMatching DOID:14000 rubeosis iridis oboInOwl:hasDbXref ICD9CM:364.42 semapv:UnspecifiedMatching -DOID:14000 rubeosis iridis oboInOwl:hasDbXref UMLS_CUI:C0154916 semapv:UnspecifiedMatching +DOID:14000 rubeosis iridis oboInOwl:hasDbXref UMLS:C0154916 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref EFO:0004282 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref MESH:D017545 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref NCI:C27001 semapv:UnspecifiedMatching @@ -23032,143 +23340,143 @@ DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:611788 semapv:Unspec DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:613780 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:615436 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref ORDO:91387 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0162872 semapv:UnspecifiedMatching +DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref UMLS:C0162872 semapv:UnspecifiedMatching DOID:14006 splenic artery aneurysm oboInOwl:hasDbXref ICD9CM:442.83 semapv:UnspecifiedMatching -DOID:14006 splenic artery aneurysm oboInOwl:hasDbXref UMLS_CUI:C0155747 semapv:UnspecifiedMatching +DOID:14006 splenic artery aneurysm oboInOwl:hasDbXref UMLS:C0155747 semapv:UnspecifiedMatching DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref ICD10CM:K70.3 semapv:UnspecifiedMatching DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref ICD9CM:571.2 semapv:UnspecifiedMatching DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref MESH:D008104 semapv:UnspecifiedMatching DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref NCI:C34782 semapv:UnspecifiedMatching -DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref UMLS_CUI:C0023891 semapv:UnspecifiedMatching +DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref UMLS:C0023891 semapv:UnspecifiedMatching DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref ICD10CM:A23.3 semapv:UnspecifiedMatching DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref ICD9CM:023.3 semapv:UnspecifiedMatching -DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref UMLS_CUI:C0494040 semapv:UnspecifiedMatching +DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref UMLS:C0494040 semapv:UnspecifiedMatching DOID:14021 Tietze's syndrome oboInOwl:hasDbXref ICD10CM:M94.0 semapv:UnspecifiedMatching DOID:14021 Tietze's syndrome oboInOwl:hasDbXref ICD9CM:733.6 semapv:UnspecifiedMatching DOID:14021 Tietze's syndrome oboInOwl:hasDbXref MESH:D013991 semapv:UnspecifiedMatching -DOID:14021 Tietze's syndrome oboInOwl:hasDbXref UMLS_CUI:C0040213 semapv:UnspecifiedMatching +DOID:14021 Tietze's syndrome oboInOwl:hasDbXref UMLS:C0040213 semapv:UnspecifiedMatching DOID:14022 algoneurodystrophy oboInOwl:hasDbXref ICD10CM:M89.0 semapv:UnspecifiedMatching DOID:14022 algoneurodystrophy oboInOwl:hasDbXref ICD9CM:733.7 semapv:UnspecifiedMatching -DOID:14022 algoneurodystrophy oboInOwl:hasDbXref UMLS_CUI:C0205930 semapv:UnspecifiedMatching +DOID:14022 algoneurodystrophy oboInOwl:hasDbXref UMLS:C0205930 semapv:UnspecifiedMatching DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref ICD10CM:D52 semapv:UnspecifiedMatching DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref ICD9CM:281.2 semapv:UnspecifiedMatching -DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0151482 semapv:UnspecifiedMatching -DOID:14032 malignant parietal pleura tumor oboInOwl:hasDbXref UMLS_CUI:C0153495 semapv:UnspecifiedMatching -DOID:14033 malignant visceral pleura tumor oboInOwl:hasDbXref UMLS_CUI:C0153496 semapv:UnspecifiedMatching +DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref UMLS:C0151482 semapv:UnspecifiedMatching +DOID:14032 malignant parietal pleura tumor oboInOwl:hasDbXref UMLS:C0153495 semapv:UnspecifiedMatching +DOID:14033 malignant visceral pleura tumor oboInOwl:hasDbXref UMLS:C0153496 semapv:UnspecifiedMatching DOID:14037 aorta atresia oboInOwl:hasDbXref ICD9CM:747.22 semapv:UnspecifiedMatching -DOID:14037 aorta atresia oboInOwl:hasDbXref UMLS_CUI:C0345010 semapv:UnspecifiedMatching +DOID:14037 aorta atresia oboInOwl:hasDbXref UMLS:C0345010 semapv:UnspecifiedMatching DOID:14039 POEMS syndrome oboInOwl:hasDbXref GARD:7411 semapv:UnspecifiedMatching DOID:14039 POEMS syndrome oboInOwl:hasDbXref MESH:D016878 semapv:UnspecifiedMatching DOID:14039 POEMS syndrome oboInOwl:hasDbXref NCI:C80303 semapv:UnspecifiedMatching -DOID:14039 POEMS syndrome oboInOwl:hasDbXref UMLS_CUI:C0085404 semapv:UnspecifiedMatching +DOID:14039 POEMS syndrome oboInOwl:hasDbXref UMLS:C0085404 semapv:UnspecifiedMatching DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref ICD10CM:H40.24 semapv:UnspecifiedMatching DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.24 semapv:UnspecifiedMatching -DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154948 semapv:UnspecifiedMatching +DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref UMLS:C0154948 semapv:UnspecifiedMatching DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref ICD10CM:E31.0 semapv:UnspecifiedMatching DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref MESH:D016884 semapv:UnspecifiedMatching DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref NCI:C84576 semapv:UnspecifiedMatching -DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref UMLS_CUI:C0085409 semapv:UnspecifiedMatching +DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref UMLS:C0085409 semapv:UnspecifiedMatching DOID:14042 bipolar I disorder oboInOwl:hasDbXref ICD9CM:296.50 semapv:UnspecifiedMatching -DOID:14042 bipolar I disorder oboInOwl:hasDbXref UMLS_CUI:C0236773 semapv:UnspecifiedMatching +DOID:14042 bipolar I disorder oboInOwl:hasDbXref UMLS:C0236773 semapv:UnspecifiedMatching DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref ICD9CM:775.2 semapv:UnspecifiedMatching DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref MESH:D020941 semapv:UnspecifiedMatching -DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C0158982 semapv:UnspecifiedMatching +DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref UMLS:C0158982 semapv:UnspecifiedMatching DOID:14049 phaeohyphomycosis oboInOwl:hasDbXref GARD:12803 semapv:UnspecifiedMatching DOID:14049 phaeohyphomycosis oboInOwl:hasDbXref MESH:D060446 semapv:UnspecifiedMatching DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref ICD10CM:H40.2 semapv:UnspecifiedMatching DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.2 semapv:UnspecifiedMatching -DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017606 semapv:UnspecifiedMatching +DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref UMLS:C0017606 semapv:UnspecifiedMatching DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref ICD10CM:C68.1 semapv:UnspecifiedMatching DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref ICD9CM:189.4 semapv:UnspecifiedMatching -DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153621 semapv:UnspecifiedMatching +DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref UMLS:C0153621 semapv:UnspecifiedMatching DOID:1406 iritis oboInOwl:hasDbXref MESH:D007500 semapv:UnspecifiedMatching DOID:1406 iritis oboInOwl:hasDbXref NCI:C50621 semapv:UnspecifiedMatching -DOID:1406 iritis oboInOwl:hasDbXref UMLS_CUI:C0022081 semapv:UnspecifiedMatching +DOID:1406 iritis oboInOwl:hasDbXref UMLS:C0022081 semapv:UnspecifiedMatching DOID:14064 acute poststreptococcal glomerulonephritis oboInOwl:hasDbXref NCI:C35443 semapv:UnspecifiedMatching -DOID:14064 acute poststreptococcal glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0403414 semapv:UnspecifiedMatching +DOID:14064 acute poststreptococcal glomerulonephritis oboInOwl:hasDbXref UMLS:C0403414 semapv:UnspecifiedMatching DOID:14066 acute diffuse nephritis oboInOwl:hasDbXref NCI:C35587 semapv:UnspecifiedMatching -DOID:14066 acute diffuse nephritis oboInOwl:hasDbXref UMLS_CUI:C0341689 semapv:UnspecifiedMatching +DOID:14066 acute diffuse nephritis oboInOwl:hasDbXref UMLS:C0341689 semapv:UnspecifiedMatching DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref ICD10CM:B50 semapv:UnspecifiedMatching DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref ICD9CM:084.0 semapv:UnspecifiedMatching DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref MESH:D016778 semapv:UnspecifiedMatching DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref NCI:C34798 semapv:UnspecifiedMatching -DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref UMLS_CUI:C0024535 semapv:UnspecifiedMatching +DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref UMLS:C0024535 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref ICD9CM:084.8 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref MESH:D001742 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref NCI:C34426 semapv:UnspecifiedMatching -DOID:14068 blackwater fever oboInOwl:hasDbXref UMLS_CUI:C0005681 semapv:UnspecifiedMatching +DOID:14068 blackwater fever oboInOwl:hasDbXref UMLS:C0005681 semapv:UnspecifiedMatching DOID:14069 cerebral malaria oboInOwl:hasDbXref ICD10CM:B50.0 semapv:UnspecifiedMatching DOID:14069 cerebral malaria oboInOwl:hasDbXref MESH:D016779 semapv:UnspecifiedMatching DOID:14069 cerebral malaria oboInOwl:hasDbXref NCI:C128373 semapv:UnspecifiedMatching -DOID:14069 cerebral malaria oboInOwl:hasDbXref UMLS_CUI:C0024534 semapv:UnspecifiedMatching +DOID:14069 cerebral malaria oboInOwl:hasDbXref UMLS:C0024534 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref GARD:10941 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref MESH:D014606 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref NCI:C35109 semapv:UnspecifiedMatching -DOID:1407 anterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0042165 semapv:UnspecifiedMatching +DOID:1407 anterior uveitis oboInOwl:hasDbXref UMLS:C0042165 semapv:UnspecifiedMatching DOID:14070 vestibular nystagmus oboInOwl:hasDbXref ICD9CM:379.54 semapv:UnspecifiedMatching -DOID:14070 vestibular nystagmus oboInOwl:hasDbXref UMLS_CUI:C0155379 semapv:UnspecifiedMatching +DOID:14070 vestibular nystagmus oboInOwl:hasDbXref UMLS:C0155379 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref ICD10CM:G51.1 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref ICD9CM:351.1 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref MESH:D005155 semapv:UnspecifiedMatching -DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref UMLS_CUI:C0017407 semapv:UnspecifiedMatching +DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref UMLS:C0017407 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref GARD:2790 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD10CM:E26.02 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD9CM:255.11 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref MESH:C563177 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref NCI:C127161 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching -DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref UMLS_CUI:C3838731 semapv:UnspecifiedMatching +DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref UMLS:C3838731 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism skos:exactMatch OMIM:103900 semapv:UnspecifiedMatching DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref ICD9CM:386.34 semapv:UnspecifiedMatching -DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155507 semapv:UnspecifiedMatching +DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref UMLS:C0155507 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref ICD10CM:M77.1 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref ICD9CM:726.32 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref MESH:D013716 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref NCI:C34589 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref NCI:C35067 semapv:UnspecifiedMatching -DOID:14087 epicondylitis oboInOwl:hasDbXref UMLS_CUI:C0014488 semapv:UnspecifiedMatching -DOID:14087 epicondylitis oboInOwl:hasDbXref UMLS_CUI:C0039516 semapv:UnspecifiedMatching +DOID:14087 epicondylitis oboInOwl:hasDbXref UMLS:C0014488 semapv:UnspecifiedMatching +DOID:14087 epicondylitis oboInOwl:hasDbXref UMLS:C0039516 semapv:UnspecifiedMatching DOID:14089 root caries oboInOwl:hasDbXref ICD9CM:521.08 semapv:UnspecifiedMatching DOID:14089 root caries oboInOwl:hasDbXref MESH:D017213 semapv:UnspecifiedMatching -DOID:14089 root caries oboInOwl:hasDbXref UMLS_CUI:C0162644 semapv:UnspecifiedMatching +DOID:14089 root caries oboInOwl:hasDbXref UMLS:C0162644 semapv:UnspecifiedMatching DOID:14092 renal artery atheroma oboInOwl:hasDbXref ICD10CM:I70.1 semapv:UnspecifiedMatching DOID:14092 renal artery atheroma oboInOwl:hasDbXref ICD9CM:440.1 semapv:UnspecifiedMatching -DOID:14092 renal artery atheroma oboInOwl:hasDbXref UMLS_CUI:C0155734 semapv:UnspecifiedMatching +DOID:14092 renal artery atheroma oboInOwl:hasDbXref UMLS:C0155734 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref ICD10CM:A77.1 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref ICD9CM:082.1 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref MESH:D001907 semapv:UnspecifiedMatching -DOID:14095 boutonneuse fever oboInOwl:hasDbXref UMLS_CUI:C0006060 semapv:UnspecifiedMatching +DOID:14095 boutonneuse fever oboInOwl:hasDbXref UMLS:C0006060 semapv:UnspecifiedMatching DOID:14096 infertility due to extratesticular cause oboInOwl:hasDbXref ICD9CM:606.8 semapv:UnspecifiedMatching -DOID:14096 infertility due to extratesticular cause oboInOwl:hasDbXref UMLS_CUI:C0021360 semapv:UnspecifiedMatching +DOID:14096 infertility due to extratesticular cause oboInOwl:hasDbXref UMLS:C0021360 semapv:UnspecifiedMatching DOID:14099 acquired gastric outlet stenosis oboInOwl:hasDbXref ICD9CM:537.0 semapv:UnspecifiedMatching -DOID:14099 acquired gastric outlet stenosis oboInOwl:hasDbXref UMLS_CUI:C0700588 semapv:UnspecifiedMatching +DOID:14099 acquired gastric outlet stenosis oboInOwl:hasDbXref UMLS:C0700588 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref ICD10CM:M65.4 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref ICD9CM:727.04 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref MESH:D053684 semapv:UnspecifiedMatching -DOID:14107 De Quervain disease oboInOwl:hasDbXref UMLS_CUI:C0149870 semapv:UnspecifiedMatching +DOID:14107 De Quervain disease oboInOwl:hasDbXref UMLS:C0149870 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref GARD:9300 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref ICD10CM:C21.0 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref ICD10CM:C21.1 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref ICD9CM:154.2 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref ICD9CM:154.3 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref NCI:C7379 semapv:UnspecifiedMatching -DOID:14110 anus cancer oboInOwl:hasDbXref UMLS_CUI:C0153445 semapv:UnspecifiedMatching -DOID:14110 anus cancer oboInOwl:hasDbXref UMLS_CUI:C0153446 semapv:UnspecifiedMatching +DOID:14110 anus cancer oboInOwl:hasDbXref UMLS:C0153445 semapv:UnspecifiedMatching +DOID:14110 anus cancer oboInOwl:hasDbXref UMLS:C0153446 semapv:UnspecifiedMatching DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref ICD10CM:K14.2 semapv:UnspecifiedMatching DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref ICD9CM:529.2 semapv:UnspecifiedMatching -DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref UMLS_CUI:C0155963 semapv:UnspecifiedMatching +DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref UMLS:C0155963 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref ICD10CM:A48.3 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref ICD9CM:040.82 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref MESH:D012772 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref NCI:C35498 semapv:UnspecifiedMatching -DOID:14115 toxic shock syndrome oboInOwl:hasDbXref UMLS_CUI:C0600327 semapv:UnspecifiedMatching +DOID:14115 toxic shock syndrome oboInOwl:hasDbXref UMLS:C0600327 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref GARD:6957 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref MESH:D008069 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref NCI:C4392 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0023804 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0028253 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0023804 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0028253 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref GARD:12241 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10CM:E78.3 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD9CM:272.3 semapv:UnspecifiedMatching @@ -23176,129 +23484,129 @@ DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref MESH:D00807 DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref NCI:C84771 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ORDO:309015 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref UMLS_CUI:C0023817 semapv:UnspecifiedMatching +DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref UMLS:C0023817 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency skos:exactMatch OMIM:238600 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref ICD10CM:R82.71 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref MEDDRA:10004056 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref MESH:D001437 semapv:UnspecifiedMatching -DOID:1412 bacteriuria oboInOwl:hasDbXref UMLS_CUI:C0004659 semapv:UnspecifiedMatching +DOID:1412 bacteriuria oboInOwl:hasDbXref UMLS:C0004659 semapv:UnspecifiedMatching DOID:14121 blue toe syndrome oboInOwl:hasDbXref MESH:D018438 semapv:UnspecifiedMatching -DOID:14121 blue toe syndrome oboInOwl:hasDbXref UMLS_CUI:C0242645 semapv:UnspecifiedMatching +DOID:14121 blue toe syndrome oboInOwl:hasDbXref UMLS:C0242645 semapv:UnspecifiedMatching DOID:14125 abducens nerve neoplasm oboInOwl:hasDbXref NCI:C5826 semapv:UnspecifiedMatching -DOID:14125 abducens nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263898 semapv:UnspecifiedMatching +DOID:14125 abducens nerve neoplasm oboInOwl:hasDbXref UMLS:C1263898 semapv:UnspecifiedMatching DOID:14130 lateral cystocele oboInOwl:hasDbXref ICD10CM:N81.12 semapv:UnspecifiedMatching DOID:14130 lateral cystocele oboInOwl:hasDbXref ICD9CM:618.02 semapv:UnspecifiedMatching -DOID:14130 lateral cystocele oboInOwl:hasDbXref UMLS_CUI:C2711750 semapv:UnspecifiedMatching +DOID:14130 lateral cystocele oboInOwl:hasDbXref UMLS:C2711750 semapv:UnspecifiedMatching DOID:14131 midline cystocele oboInOwl:hasDbXref ICD10CM:N81.11 semapv:UnspecifiedMatching DOID:14131 midline cystocele oboInOwl:hasDbXref ICD9CM:618.01 semapv:UnspecifiedMatching -DOID:14131 midline cystocele oboInOwl:hasDbXref UMLS_CUI:C1456248 semapv:UnspecifiedMatching +DOID:14131 midline cystocele oboInOwl:hasDbXref UMLS:C1456248 semapv:UnspecifiedMatching DOID:14133 Masters-Allen syndrome oboInOwl:hasDbXref ICD9CM:620.6 semapv:UnspecifiedMatching -DOID:14133 Masters-Allen syndrome oboInOwl:hasDbXref UMLS_CUI:C0152079 semapv:UnspecifiedMatching +DOID:14133 Masters-Allen syndrome oboInOwl:hasDbXref UMLS:C0152079 semapv:UnspecifiedMatching DOID:14139 anus lymphoma oboInOwl:hasDbXref NCI:C5601 semapv:UnspecifiedMatching -DOID:14139 anus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332268 semapv:UnspecifiedMatching +DOID:14139 anus lymphoma oboInOwl:hasDbXref UMLS:C1332268 semapv:UnspecifiedMatching DOID:1414 ovarian dysfunction oboInOwl:hasDbXref ICD9CM:256.3 semapv:UnspecifiedMatching -DOID:1414 ovarian dysfunction oboInOwl:hasDbXref UMLS_CUI:C0029697 semapv:UnspecifiedMatching +DOID:1414 ovarian dysfunction oboInOwl:hasDbXref UMLS:C0029697 semapv:UnspecifiedMatching DOID:14140 pulp erosion oboInOwl:hasDbXref ICD9CM:521.33 semapv:UnspecifiedMatching -DOID:14140 pulp erosion oboInOwl:hasDbXref UMLS_CUI:C1456163 semapv:UnspecifiedMatching +DOID:14140 pulp erosion oboInOwl:hasDbXref UMLS:C1456163 semapv:UnspecifiedMatching DOID:14145 malignant anus melanoma oboInOwl:hasDbXref NCI:C4639 semapv:UnspecifiedMatching -DOID:14145 malignant anus melanoma oboInOwl:hasDbXref UMLS_CUI:C0349538 semapv:UnspecifiedMatching +DOID:14145 malignant anus melanoma oboInOwl:hasDbXref UMLS:C0349538 semapv:UnspecifiedMatching DOID:14146 ureterolithiasis oboInOwl:hasDbXref ICD10CM:N20.1 semapv:UnspecifiedMatching DOID:14146 ureterolithiasis oboInOwl:hasDbXref ICD9CM:592.1 semapv:UnspecifiedMatching DOID:14146 ureterolithiasis oboInOwl:hasDbXref MESH:D053039 semapv:UnspecifiedMatching DOID:14146 ureterolithiasis oboInOwl:hasDbXref NCI:C114696 semapv:UnspecifiedMatching -DOID:14146 ureterolithiasis oboInOwl:hasDbXref UMLS_CUI:C0041952 semapv:UnspecifiedMatching +DOID:14146 ureterolithiasis oboInOwl:hasDbXref UMLS:C0041952 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref GARD:6556 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref MESH:D015799 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref NCI:C84744 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching -DOID:1415 gyrate atrophy oboInOwl:hasDbXref UMLS_CUI:C0018425 semapv:UnspecifiedMatching +DOID:1415 gyrate atrophy oboInOwl:hasDbXref UMLS:C0018425 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy skos:exactMatch OMIM:258870 semapv:UnspecifiedMatching DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref NCI:C5157 semapv:UnspecifiedMatching -DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336044 semapv:UnspecifiedMatching +DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref UMLS:C1336044 semapv:UnspecifiedMatching DOID:14151 spinal cord melanoma oboInOwl:hasDbXref NCI:C5158 semapv:UnspecifiedMatching -DOID:14151 spinal cord melanoma oboInOwl:hasDbXref UMLS_CUI:C1336045 semapv:UnspecifiedMatching +DOID:14151 spinal cord melanoma oboInOwl:hasDbXref UMLS:C1336045 semapv:UnspecifiedMatching DOID:14152 spinal cord sarcoma oboInOwl:hasDbXref NCI:C5152 semapv:UnspecifiedMatching -DOID:14152 spinal cord sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336049 semapv:UnspecifiedMatching +DOID:14152 spinal cord sarcoma oboInOwl:hasDbXref UMLS:C1336049 semapv:UnspecifiedMatching DOID:14155 acute retrobulbar neuritis oboInOwl:hasDbXref ICD9CM:377.32 semapv:UnspecifiedMatching -DOID:14155 acute retrobulbar neuritis oboInOwl:hasDbXref UMLS_CUI:C0155301 semapv:UnspecifiedMatching +DOID:14155 acute retrobulbar neuritis oboInOwl:hasDbXref UMLS:C0155301 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.1 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref ICD9CM:331.4 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref NCI:C116347 semapv:UnspecifiedMatching -DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0549423 semapv:UnspecifiedMatching +DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref UMLS:C0549423 semapv:UnspecifiedMatching DOID:14165 bilateral hyperactive labyrinth oboInOwl:hasDbXref ICD9CM:386.52 semapv:UnspecifiedMatching -DOID:14165 bilateral hyperactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155516 semapv:UnspecifiedMatching +DOID:14165 bilateral hyperactive labyrinth oboInOwl:hasDbXref UMLS:C0155516 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref ICD10CM:H31.9 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref ICD9CM:363.9 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref MESH:D015862 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref NCI:C34468 semapv:UnspecifiedMatching -DOID:1417 choroid disease oboInOwl:hasDbXref UMLS_CUI:C0008521 semapv:UnspecifiedMatching +DOID:1417 choroid disease oboInOwl:hasDbXref UMLS:C0008521 semapv:UnspecifiedMatching DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref ICD10CM:I09.81 semapv:UnspecifiedMatching DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref ICD9CM:398.91 semapv:UnspecifiedMatching -DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref UMLS_CUI:C0155582 semapv:UnspecifiedMatching +DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref UMLS:C0155582 semapv:UnspecifiedMatching DOID:14174 central neurocytoma oboInOwl:hasDbXref ICDO:9506/1 semapv:UnspecifiedMatching DOID:14174 central neurocytoma oboInOwl:hasDbXref MESH:D018306 semapv:UnspecifiedMatching DOID:14174 central neurocytoma oboInOwl:hasDbXref NCI:C3791 semapv:UnspecifiedMatching -DOID:14174 central neurocytoma oboInOwl:hasDbXref UMLS_CUI:C0206719 semapv:UnspecifiedMatching +DOID:14174 central neurocytoma oboInOwl:hasDbXref UMLS:C0206719 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref GARD:7855 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref ICD10CM:Q85.83 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref NCI:C3105 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 semapv:UnspecifiedMatching -DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref UMLS_CUI:C0019562 semapv:UnspecifiedMatching +DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C0019562 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease skos:exactMatch OMIM:193300 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref GARD:10371 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref ICD10CM:D80.3 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref MESH:D017099 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref NCI:C27142 semapv:UnspecifiedMatching -DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0162539 semapv:UnspecifiedMatching +DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref UMLS:C0162539 semapv:UnspecifiedMatching DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref ICD9CM:279.04 semapv:UnspecifiedMatching -DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C1457897 semapv:UnspecifiedMatching +DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C1457897 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref MESH:C537409 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref NCI:C3822 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref ORDO:47 semapv:UnspecifiedMatching -DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0221026 semapv:UnspecifiedMatching +DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS:C0221026 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia skos:exactMatch OMIM:300755 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref ICD10CM:M75.3 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref ICD9CM:726.11 semapv:UnspecifiedMatching -DOID:14181 calcific tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158303 semapv:UnspecifiedMatching +DOID:14181 calcific tendinitis oboInOwl:hasDbXref UMLS:C0158303 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref ICD10CM:G62.1 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref ICD9CM:357.5 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref MESH:D020269 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref NCI:C26926 semapv:UnspecifiedMatching -DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0085677 semapv:UnspecifiedMatching +DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref UMLS:C0085677 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy skos:exactMatch MESH:D020269 semapv:UnspecifiedMatching DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref ICD10CM:G62.0 semapv:UnspecifiedMatching DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref ICD9CM:357.6 semapv:UnspecifiedMatching -DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref UMLS_CUI:C0154762 semapv:UnspecifiedMatching +DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref UMLS:C0154762 semapv:UnspecifiedMatching DOID:14188 frozen shoulder oboInOwl:hasDbXref ICD10CM:M75.0 semapv:UnspecifiedMatching DOID:14188 frozen shoulder oboInOwl:hasDbXref ICD9CM:726.0 semapv:UnspecifiedMatching DOID:14188 frozen shoulder oboInOwl:hasDbXref MESH:D002062 semapv:UnspecifiedMatching -DOID:14188 frozen shoulder oboInOwl:hasDbXref UMLS_CUI:C0311223 semapv:UnspecifiedMatching +DOID:14188 frozen shoulder oboInOwl:hasDbXref UMLS:C0311223 semapv:UnspecifiedMatching DOID:14192 bicipital tenosynovitis oboInOwl:hasDbXref ICD9CM:726.12 semapv:UnspecifiedMatching -DOID:14192 bicipital tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0158304 semapv:UnspecifiedMatching +DOID:14192 bicipital tenosynovitis oboInOwl:hasDbXref UMLS:C0158304 semapv:UnspecifiedMatching DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref ICD10CM:H27.13 semapv:UnspecifiedMatching DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref ICD9CM:379.34 semapv:UnspecifiedMatching -DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref UMLS_CUI:C0155373 semapv:UnspecifiedMatching +DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref UMLS:C0155373 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref ICD10CM:M33.0 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref MESH:D003882 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref NCI:C27576 semapv:UnspecifiedMatching -DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref UMLS_CUI:C0263666 semapv:UnspecifiedMatching +DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref UMLS:C0263666 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref GARD:6734 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref ICD10CM:E83.39 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref MESH:C562440 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref MESH:D007014 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref NCI:C26798 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref ORDO:436 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS_CUI:C0020630 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS_CUI:C0220743 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS:C0020630 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS:C0220743 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref GARD:19 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref NCI:C84672 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C1959620 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C3495551 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1959620 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3495551 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency skos:exactMatch OMIM:274270 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref GARD:7552 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref ICD10CM:N25.89 semapv:UnspecifiedMatching @@ -23307,7 +23615,7 @@ DOID:14219 renal tubular acidosis oboInOwl:hasDbXref NCI:C28129 semapv:Unspecifi DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref UMLS_CUI:C0001126 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref UMLS:C0001126 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref EFO:0000195 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref GARD:9226 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD10CM:E88.81 semapv:UnspecifiedMatching @@ -23315,58 +23623,58 @@ DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD9CM:277. DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref MESH:D024821 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref NCI:C84442 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref OMIM:605552 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0524620 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref UMLS:C0524620 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 skos:exactMatch OMIM:605552 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref GARD:7231 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref MESH:D009794 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref NCI:C84938 semapv:UnspecifiedMatching -DOID:14223 ochronosis oboInOwl:hasDbXref UMLS_CUI:C0028817 semapv:UnspecifiedMatching +DOID:14223 ochronosis oboInOwl:hasDbXref UMLS:C0028817 semapv:UnspecifiedMatching DOID:14224 tracheal calcification oboInOwl:hasDbXref NCI:C35314 semapv:UnspecifiedMatching -DOID:14224 tracheal calcification oboInOwl:hasDbXref UMLS_CUI:C0264324 semapv:UnspecifiedMatching +DOID:14224 tracheal calcification oboInOwl:hasDbXref UMLS:C0264324 semapv:UnspecifiedMatching DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref ICD10CM:J01.1 semapv:UnspecifiedMatching DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref ICD9CM:461.1 semapv:UnspecifiedMatching -DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155805 semapv:UnspecifiedMatching +DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref UMLS:C0155805 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref EFO:0000279 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref ICD10CM:N46.0 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref ICD9CM:606.0 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref MESH:D053713 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref NCI:C80076 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref ORDO:217034 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref UMLS_CUI:C0004509 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref UMLS:C0004509 semapv:UnspecifiedMatching DOID:14227 azoospermia skos:exactMatch MESH:D053713 semapv:UnspecifiedMatching DOID:14228 oligospermia oboInOwl:hasDbXref ICD10CM:N46.1 semapv:UnspecifiedMatching DOID:14228 oligospermia oboInOwl:hasDbXref ICD9CM:606.1 semapv:UnspecifiedMatching DOID:14228 oligospermia oboInOwl:hasDbXref MESH:D009845 semapv:UnspecifiedMatching DOID:14228 oligospermia oboInOwl:hasDbXref NCI:C34860 semapv:UnspecifiedMatching -DOID:14228 oligospermia oboInOwl:hasDbXref UMLS_CUI:C0028960 semapv:UnspecifiedMatching +DOID:14228 oligospermia oboInOwl:hasDbXref UMLS:C0028960 semapv:UnspecifiedMatching DOID:14230 scleromalacia perforans oboInOwl:hasDbXref ICD10CM:H15.05 semapv:UnspecifiedMatching DOID:14230 scleromalacia perforans oboInOwl:hasDbXref ICD9CM:379.04 semapv:UnspecifiedMatching -DOID:14230 scleromalacia perforans oboInOwl:hasDbXref UMLS_CUI:C0155354 semapv:UnspecifiedMatching +DOID:14230 scleromalacia perforans oboInOwl:hasDbXref UMLS:C0155354 semapv:UnspecifiedMatching DOID:14233 orbital cyst oboInOwl:hasDbXref ICD10CM:H05.81 semapv:UnspecifiedMatching DOID:14233 orbital cyst oboInOwl:hasDbXref ICD9CM:376.81 semapv:UnspecifiedMatching -DOID:14233 orbital cyst oboInOwl:hasDbXref UMLS_CUI:C0155285 semapv:UnspecifiedMatching +DOID:14233 orbital cyst oboInOwl:hasDbXref UMLS:C0155285 semapv:UnspecifiedMatching DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref ICD9CM:021.1 semapv:UnspecifiedMatching DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref ICD9CM:021.8 semapv:UnspecifiedMatching -DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref UMLS_CUI:C0029835 semapv:UnspecifiedMatching -DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref UMLS_CUI:C0152942 semapv:UnspecifiedMatching +DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref UMLS:C0029835 semapv:UnspecifiedMatching +DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref UMLS:C0152942 semapv:UnspecifiedMatching DOID:14243 chronic perichondritis of pinna oboInOwl:hasDbXref ICD9CM:380.02 semapv:UnspecifiedMatching -DOID:14243 chronic perichondritis of pinna oboInOwl:hasDbXref UMLS_CUI:C0155391 semapv:UnspecifiedMatching +DOID:14243 chronic perichondritis of pinna oboInOwl:hasDbXref UMLS:C0155391 semapv:UnspecifiedMatching DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref ICD10CM:H04.21 semapv:UnspecifiedMatching DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref ICD9CM:375.21 semapv:UnspecifiedMatching -DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref UMLS_CUI:C0155233 semapv:UnspecifiedMatching +DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref UMLS:C0155233 semapv:UnspecifiedMatching DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref ICD10CM:H35.35 semapv:UnspecifiedMatching DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref ICD9CM:362.53 semapv:UnspecifiedMatching -DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154850 semapv:UnspecifiedMatching +DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref UMLS:C0154850 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref ICD10CM:H66.3 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref ICD9CM:382.3 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref NCI:C128386 semapv:UnspecifiedMatching -DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref UMLS_CUI:C0271454 semapv:UnspecifiedMatching +DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref UMLS:C0271454 semapv:UnspecifiedMatching DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref ICD10CM:H66.2 semapv:UnspecifiedMatching DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref ICD9CM:382.2 semapv:UnspecifiedMatching -DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref UMLS_CUI:C0155441 semapv:UnspecifiedMatching +DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref UMLS:C0155441 semapv:UnspecifiedMatching DOID:1425 pyoureter oboInOwl:hasDbXref NCI:C35666 semapv:UnspecifiedMatching -DOID:1425 pyoureter oboInOwl:hasDbXref UMLS_CUI:C0034223 semapv:UnspecifiedMatching +DOID:1425 pyoureter oboInOwl:hasDbXref UMLS:C0034223 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref GARD:10247 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ICD10CM:Q90 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ICD9CM:758.0 semapv:UnspecifiedMatching @@ -23374,23 +23682,23 @@ DOID:14250 Down syndrome oboInOwl:hasDbXref MESH:D004314 semapv:UnspecifiedMatch DOID:14250 Down syndrome oboInOwl:hasDbXref NCI:C2993 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ORDO:870 semapv:UnspecifiedMatching -DOID:14250 Down syndrome oboInOwl:hasDbXref UMLS_CUI:C0013080 semapv:UnspecifiedMatching +DOID:14250 Down syndrome oboInOwl:hasDbXref UMLS:C0013080 semapv:UnspecifiedMatching DOID:14250 Down syndrome skos:exactMatch OMIM:190685 semapv:UnspecifiedMatching DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.51 semapv:UnspecifiedMatching DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref ICD9CM:362.73 semapv:UnspecifiedMatching -DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0154863 semapv:UnspecifiedMatching +DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref UMLS:C0154863 semapv:UnspecifiedMatching DOID:14252 dystrophies primarily involving the retinal pigment epithelium oboInOwl:hasDbXref ICD10CM:H35.54 semapv:UnspecifiedMatching DOID:14252 dystrophies primarily involving the retinal pigment epithelium oboInOwl:hasDbXref ICD9CM:362.76 semapv:UnspecifiedMatching -DOID:14252 dystrophies primarily involving the retinal pigment epithelium oboInOwl:hasDbXref UMLS_CUI:C0154865 semapv:UnspecifiedMatching +DOID:14252 dystrophies primarily involving the retinal pigment epithelium oboInOwl:hasDbXref UMLS:C0154865 semapv:UnspecifiedMatching DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses oboInOwl:hasDbXref ICD9CM:362.71 semapv:UnspecifiedMatching -DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses oboInOwl:hasDbXref UMLS_CUI:C0154861 semapv:UnspecifiedMatching +DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses oboInOwl:hasDbXref UMLS:C0154861 semapv:UnspecifiedMatching DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref GARD:436 semapv:UnspecifiedMatching DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref ICD10CM:M06.1 semapv:UnspecifiedMatching DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref MESH:D016706 semapv:UnspecifiedMatching -DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref UMLS_CUI:C0085253 semapv:UnspecifiedMatching +DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref UMLS:C0085253 semapv:UnspecifiedMatching DOID:1426 ureteral disease oboInOwl:hasDbXref MESH:D014515 semapv:UnspecifiedMatching DOID:1426 ureteral disease oboInOwl:hasDbXref NCI:C27148 semapv:UnspecifiedMatching -DOID:1426 ureteral disease oboInOwl:hasDbXref UMLS_CUI:C0403608 semapv:UnspecifiedMatching +DOID:1426 ureteral disease oboInOwl:hasDbXref UMLS:C0403608 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref GARD:6464 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD10CM:Q99.2 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD9CM:759.83 semapv:UnspecifiedMatching @@ -23398,111 +23706,111 @@ DOID:14261 fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:Unspecified DOID:14261 fragile X syndrome oboInOwl:hasDbXref NCI:C84717 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref ORDO:908 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref UMLS_CUI:C0016667 semapv:UnspecifiedMatching +DOID:14261 fragile X syndrome oboInOwl:hasDbXref UMLS:C0016667 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome skos:exactMatch OMIM:300624 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref ICD10CM:B37.9 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref ICD9CM:112.0 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref MESH:D002180 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref NCI:C28137 semapv:UnspecifiedMatching -DOID:14262 oral candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006849 semapv:UnspecifiedMatching +DOID:14262 oral candidiasis oboInOwl:hasDbXref UMLS:C0006849 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref NCI:C84593 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:269720 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref UMLS_CUI:C0270851 semapv:UnspecifiedMatching +DOID:14264 benign neonatal seizures oboInOwl:hasDbXref UMLS:C0270851 semapv:UnspecifiedMatching DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref MESH:D011665 semapv:UnspecifiedMatching DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref NCI:C62436 semapv:UnspecifiedMatching -DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0034088 semapv:UnspecifiedMatching +DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref UMLS:C0034088 semapv:UnspecifiedMatching DOID:14265 pulmonary valve insufficiency skos:exactMatch MESH:D011665 semapv:UnspecifiedMatching DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref EFO:0004268 semapv:UnspecifiedMatching DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching -DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008313 semapv:UnspecifiedMatching +DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0008313 semapv:UnspecifiedMatching DOID:14269 suppurative cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching DOID:14269 suppurative cholangitis oboInOwl:hasDbXref NCI:C35336 semapv:UnspecifiedMatching -DOID:14269 suppurative cholangitis oboInOwl:hasDbXref UMLS_CUI:C0267924 semapv:UnspecifiedMatching +DOID:14269 suppurative cholangitis oboInOwl:hasDbXref UMLS:C0267924 semapv:UnspecifiedMatching DOID:14270 ascending cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching DOID:14270 ascending cholangitis oboInOwl:hasDbXref NCI:C35372 semapv:UnspecifiedMatching -DOID:14270 ascending cholangitis oboInOwl:hasDbXref UMLS_CUI:C0311273 semapv:UnspecifiedMatching +DOID:14270 ascending cholangitis oboInOwl:hasDbXref UMLS:C0311273 semapv:UnspecifiedMatching DOID:14271 acute cholangitis oboInOwl:hasDbXref NCI:C35334 semapv:UnspecifiedMatching -DOID:14271 acute cholangitis oboInOwl:hasDbXref UMLS_CUI:C0267917 semapv:UnspecifiedMatching +DOID:14271 acute cholangitis oboInOwl:hasDbXref UMLS:C0267917 semapv:UnspecifiedMatching DOID:14272 pericholangitis oboInOwl:hasDbXref NCI:C34916 semapv:UnspecifiedMatching -DOID:14272 pericholangitis oboInOwl:hasDbXref UMLS_CUI:C0031052 semapv:UnspecifiedMatching +DOID:14272 pericholangitis oboInOwl:hasDbXref UMLS:C0031052 semapv:UnspecifiedMatching DOID:14275 atrophic vulva oboInOwl:hasDbXref ICD10CM:N90.5 semapv:UnspecifiedMatching DOID:14275 atrophic vulva oboInOwl:hasDbXref ICD9CM:624.1 semapv:UnspecifiedMatching -DOID:14275 atrophic vulva oboInOwl:hasDbXref UMLS_CUI:C0156393 semapv:UnspecifiedMatching +DOID:14275 atrophic vulva oboInOwl:hasDbXref UMLS:C0156393 semapv:UnspecifiedMatching DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref ICD10CM:M75.4 semapv:UnspecifiedMatching DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref MESH:D019534 semapv:UnspecifiedMatching -DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref UMLS_CUI:C0376685 semapv:UnspecifiedMatching +DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref UMLS:C0376685 semapv:UnspecifiedMatching DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref ICD10CM:E16 semapv:UnspecifiedMatching DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref ICD9CM:251 semapv:UnspecifiedMatching -DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref UMLS_CUI:C0154189 semapv:UnspecifiedMatching +DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref UMLS:C0154189 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD10CM:M89.4 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010004 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref NCI:C85023 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching -DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS_CUI:C0029411 semapv:UnspecifiedMatching +DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS:C0029411 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 semapv:UnspecifiedMatching DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref MESH:D046788 semapv:UnspecifiedMatching -DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref UMLS_CUI:C0877149 semapv:UnspecifiedMatching +DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref UMLS:C0877149 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref ICD10CM:M14.6 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref ICD9CM:713.5 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref MESH:D001177 semapv:UnspecifiedMatching -DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref UMLS_CUI:C0003892 semapv:UnspecifiedMatching +DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref UMLS:C0003892 semapv:UnspecifiedMatching DOID:14287 brawny scleritis oboInOwl:hasDbXref ICD10CM:H15.02 semapv:UnspecifiedMatching DOID:14287 brawny scleritis oboInOwl:hasDbXref ICD9CM:379.06 semapv:UnspecifiedMatching -DOID:14287 brawny scleritis oboInOwl:hasDbXref UMLS_CUI:C0155356 semapv:UnspecifiedMatching +DOID:14287 brawny scleritis oboInOwl:hasDbXref UMLS:C0155356 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref GARD:6313 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD10CM:Q22.5 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD9CM:746.2 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref MESH:D004437 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref NCI:C84681 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref OMIM:224700 semapv:UnspecifiedMatching -DOID:14289 Ebstein anomaly oboInOwl:hasDbXref UMLS_CUI:C0013481 semapv:UnspecifiedMatching +DOID:14289 Ebstein anomaly oboInOwl:hasDbXref UMLS:C0013481 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly skos:exactMatch OMIM:224700 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref GARD:1100 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:D044542 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref NCI:C84820 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIMPS:151100 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ORDO:500 semapv:UnspecifiedMatching -DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref UMLS_CUI:C0175704 semapv:UnspecifiedMatching +DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref UMLS:C0175704 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines skos:exactMatch OMIMPS:151100 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref ICD10CM:N90.4 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref ICD9CM:624.0 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref NCI:C34565 semapv:UnspecifiedMatching -DOID:14292 vulvar dystrophy oboInOwl:hasDbXref UMLS_CUI:C0013426 semapv:UnspecifiedMatching +DOID:14292 vulvar dystrophy oboInOwl:hasDbXref UMLS:C0013426 semapv:UnspecifiedMatching DOID:14305 tuberculous empyema oboInOwl:hasDbXref MESH:D004654 semapv:UnspecifiedMatching DOID:14305 tuberculous empyema oboInOwl:hasDbXref NCI:C34575 semapv:UnspecifiedMatching -DOID:14305 tuberculous empyema oboInOwl:hasDbXref UMLS_CUI:C0014014 semapv:UnspecifiedMatching +DOID:14305 tuberculous empyema oboInOwl:hasDbXref UMLS:C0014014 semapv:UnspecifiedMatching DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref MESH:D000796 semapv:UnspecifiedMatching DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref NCI:C7393 semapv:UnspecifiedMatching -DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C0002989 semapv:UnspecifiedMatching +DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref UMLS:C0002989 semapv:UnspecifiedMatching DOID:14319 pleuropneumonia oboInOwl:hasDbXref MESH:D011001 semapv:UnspecifiedMatching -DOID:14319 pleuropneumonia oboInOwl:hasDbXref UMLS_CUI:C0032241 semapv:UnspecifiedMatching +DOID:14319 pleuropneumonia oboInOwl:hasDbXref UMLS:C0032241 semapv:UnspecifiedMatching DOID:1432 blindness oboInOwl:hasDbXref ICD10CM:H54 semapv:UnspecifiedMatching DOID:1432 blindness oboInOwl:hasDbXref ICD9CM:369 semapv:UnspecifiedMatching -DOID:1432 blindness oboInOwl:hasDbXref UMLS_CUI:C0155020 semapv:UnspecifiedMatching +DOID:1432 blindness oboInOwl:hasDbXref UMLS:C0155020 semapv:UnspecifiedMatching DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref ICD10CM:F41.1 semapv:UnspecifiedMatching DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref ICD9CM:300.02 semapv:UnspecifiedMatching DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref NCI:C92622 semapv:UnspecifiedMatching -DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref UMLS_CUI:C0270549 semapv:UnspecifiedMatching +DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref UMLS:C0270549 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref GARD:6975 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD10CM:Q87.4 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD9CM:759.82 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref NCI:C34807 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching -DOID:14323 Marfan syndrome oboInOwl:hasDbXref UMLS_CUI:C0024796 semapv:UnspecifiedMatching +DOID:14323 Marfan syndrome oboInOwl:hasDbXref UMLS:C0024796 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome skos:exactMatch MESH:D008382 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome skos:exactMatch OMIM:154700 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref ICD10CM:B52 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref ICD9CM:084.2 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref NCI:C34799 semapv:UnspecifiedMatching -DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref UMLS_CUI:C0024536 semapv:UnspecifiedMatching +DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref UMLS:C0024536 semapv:UnspecifiedMatching DOID:14325 mixed malaria oboInOwl:hasDbXref ICD9CM:084.5 semapv:UnspecifiedMatching -DOID:14325 mixed malaria oboInOwl:hasDbXref UMLS_CUI:C0153121 semapv:UnspecifiedMatching +DOID:14325 mixed malaria oboInOwl:hasDbXref UMLS:C0153121 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref EFO:0002508 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref GARD:10251 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref ICD10CM:G20 semapv:UnspecifiedMatching @@ -23512,135 +23820,135 @@ DOID:14330 Parkinson's disease oboInOwl:hasDbXref MESH:D010300 semapv:Unspecifie DOID:14330 Parkinson's disease oboInOwl:hasDbXref NCI:C26845 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref OMIMPS:168600 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref ORDO:2828 semapv:UnspecifiedMatching -DOID:14330 Parkinson's disease oboInOwl:hasDbXref UMLS_CUI:C0030567 semapv:UnspecifiedMatching +DOID:14330 Parkinson's disease oboInOwl:hasDbXref UMLS:C0030567 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease skos:exactMatch OMIMPS:168600 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref ICD10CM:G21.3 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref MESH:D010301 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref NCI:C34898 semapv:UnspecifiedMatching -DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref UMLS_CUI:C0030568 semapv:UnspecifiedMatching +DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref UMLS:C0030568 semapv:UnspecifiedMatching DOID:14336 estrogen excess oboInOwl:hasDbXref ICD10CM:E28.0 semapv:UnspecifiedMatching DOID:14336 estrogen excess oboInOwl:hasDbXref ICD9CM:256.0 semapv:UnspecifiedMatching DOID:14336 estrogen excess oboInOwl:hasDbXref NCI:C113344 semapv:UnspecifiedMatching -DOID:14336 estrogen excess oboInOwl:hasDbXref UMLS_CUI:C0154209 semapv:UnspecifiedMatching +DOID:14336 estrogen excess oboInOwl:hasDbXref UMLS:C0154209 semapv:UnspecifiedMatching DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref ICD10CM:E06.0 semapv:UnspecifiedMatching DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref MESH:D013969 semapv:UnspecifiedMatching DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref NCI:C129724 semapv:UnspecifiedMatching -DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040150 semapv:UnspecifiedMatching +DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref UMLS:C0040150 semapv:UnspecifiedMatching DOID:14351 Riedel's fibrosing thyroiditis oboInOwl:hasDbXref ICD10CM:E06.5 semapv:UnspecifiedMatching DOID:14351 Riedel's fibrosing thyroiditis oboInOwl:hasDbXref NCI:C35827 semapv:UnspecifiedMatching -DOID:14351 Riedel's fibrosing thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0154162 semapv:UnspecifiedMatching +DOID:14351 Riedel's fibrosing thyroiditis oboInOwl:hasDbXref UMLS:C0154162 semapv:UnspecifiedMatching DOID:14353 acute thyroiditis oboInOwl:hasDbXref ICD10CM:E06.0 semapv:UnspecifiedMatching DOID:14353 acute thyroiditis oboInOwl:hasDbXref ICD9CM:245.0 semapv:UnspecifiedMatching -DOID:14353 acute thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0001360 semapv:UnspecifiedMatching +DOID:14353 acute thyroiditis oboInOwl:hasDbXref UMLS:C0001360 semapv:UnspecifiedMatching DOID:1436 corneal ectasia oboInOwl:hasDbXref ICD10CM:H18.71 semapv:UnspecifiedMatching DOID:1436 corneal ectasia oboInOwl:hasDbXref ICD9CM:371.71 semapv:UnspecifiedMatching -DOID:1436 corneal ectasia oboInOwl:hasDbXref UMLS_CUI:C0155135 semapv:UnspecifiedMatching +DOID:1436 corneal ectasia oboInOwl:hasDbXref UMLS:C0155135 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD10CM:E71.41 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD9CM:277.81 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref MESH:C536778 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref NCI:C98864 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref OMIM:212140 semapv:UnspecifiedMatching -DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0342788 semapv:UnspecifiedMatching +DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref UMLS:C0342788 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease skos:exactMatch OMIM:212140 semapv:UnspecifiedMatching DOID:14374 norwegian scabies oboInOwl:hasDbXref NCI:C34855 semapv:UnspecifiedMatching -DOID:14374 norwegian scabies oboInOwl:hasDbXref UMLS_CUI:C0028425 semapv:UnspecifiedMatching +DOID:14374 norwegian scabies oboInOwl:hasDbXref UMLS:C0028425 semapv:UnspecifiedMatching DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.3 semapv:UnspecifiedMatching DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.3 semapv:UnspecifiedMatching DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref NCI:C5573 semapv:UnspecifiedMatching -DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153637 semapv:UnspecifiedMatching -DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263888 semapv:UnspecifiedMatching +DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref UMLS:C0153637 semapv:UnspecifiedMatching +DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref UMLS:C1263888 semapv:UnspecifiedMatching DOID:1439 pyuria oboInOwl:hasDbXref ICD10CM:R82.81 semapv:UnspecifiedMatching DOID:1439 pyuria oboInOwl:hasDbXref MESH:D011776 semapv:UnspecifiedMatching DOID:1439 pyuria oboInOwl:hasDbXref NCI:C119028 semapv:UnspecifiedMatching -DOID:1439 pyuria oboInOwl:hasDbXref UMLS_CUI:C0034359 semapv:UnspecifiedMatching +DOID:1439 pyuria oboInOwl:hasDbXref UMLS:C0034359 semapv:UnspecifiedMatching DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref ICD10CM:I82.1 semapv:UnspecifiedMatching DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref ICD9CM:453.1 semapv:UnspecifiedMatching -DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref UMLS_CUI:C0152250 semapv:UnspecifiedMatching +DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref UMLS:C0152250 semapv:UnspecifiedMatching DOID:14397 protozoal dysentery oboInOwl:hasDbXref ICD10CM:A07.8 semapv:UnspecifiedMatching DOID:14397 protozoal dysentery oboInOwl:hasDbXref ICD9CM:007.8 semapv:UnspecifiedMatching -DOID:14397 protozoal dysentery oboInOwl:hasDbXref UMLS_CUI:C0152507 semapv:UnspecifiedMatching +DOID:14397 protozoal dysentery oboInOwl:hasDbXref UMLS:C0152507 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref MESH:D017827 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref NCI:C84830 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref UMLS_CUI:C0024408 semapv:UnspecifiedMatching +DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref UMLS:C0024408 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease skos:exactMatch MESH:D017827 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease skos:exactMatch OMIM:109150 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref GARD:1084 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref NCI:C62578 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref ORDO:188 semapv:UnspecifiedMatching -DOID:14400 capillary leak syndrome oboInOwl:hasDbXref UMLS_CUI:C0343084 semapv:UnspecifiedMatching +DOID:14400 capillary leak syndrome oboInOwl:hasDbXref UMLS:C0343084 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome skos:exactMatch MESH:D019559 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref ICD10CM:G62.81 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref ICD9CM:357.82 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref MESH:D011115 semapv:UnspecifiedMatching -DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0393851 semapv:UnspecifiedMatching +DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref UMLS:C0393851 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref MESH:D020754 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref NCI:C82341 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref OMIMPS:164400 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref ORDO:94 semapv:UnspecifiedMatching -DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref UMLS_CUI:C0087012 semapv:UnspecifiedMatching +DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref UMLS:C0087012 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia skos:exactMatch OMIMPS:164400 semapv:UnspecifiedMatching DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref ICD9CM:386.56 semapv:UnspecifiedMatching -DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref UMLS_CUI:C0155520 semapv:UnspecifiedMatching +DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref UMLS:C0155520 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref GARD:6874 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref ICD10CM:M91.2 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref MESH:D007873 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref NCI:C34766 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref OMIM:150600 semapv:UnspecifiedMatching -DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref UMLS_CUI:C0022441 semapv:UnspecifiedMatching -DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref UMLS_CUI:C0023234 semapv:UnspecifiedMatching +DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref UMLS:C0022441 semapv:UnspecifiedMatching +DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease skos:exactMatch OMIM:150600 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref GARD:6286 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref ICD10CM:B72 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref ICD9CM:125.7 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref MESH:D004320 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref NCI:C84677 semapv:UnspecifiedMatching -DOID:14418 dracunculiasis oboInOwl:hasDbXref UMLS_CUI:C0013100 semapv:UnspecifiedMatching +DOID:14418 dracunculiasis oboInOwl:hasDbXref UMLS:C0013100 semapv:UnspecifiedMatching DOID:14422 dipetalonemiasis oboInOwl:hasDbXref ICD9CM:125.4 semapv:UnspecifiedMatching DOID:14422 dipetalonemiasis oboInOwl:hasDbXref MESH:D004154 semapv:UnspecifiedMatching DOID:14422 dipetalonemiasis oboInOwl:hasDbXref NCI:C34540 semapv:UnspecifiedMatching -DOID:14422 dipetalonemiasis oboInOwl:hasDbXref UMLS_CUI:C0012517 semapv:UnspecifiedMatching +DOID:14422 dipetalonemiasis oboInOwl:hasDbXref UMLS:C0012517 semapv:UnspecifiedMatching DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref GARD:6519 semapv:UnspecifiedMatching DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10CM:G52.1 semapv:UnspecifiedMatching DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref ICD9CM:352.1 semapv:UnspecifiedMatching DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref MESH:D020435 semapv:UnspecifiedMatching -DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS_CUI:C0154731 semapv:UnspecifiedMatching +DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS:C0154731 semapv:UnspecifiedMatching DOID:14427 abnormality of glucagon secretion oboInOwl:hasDbXref ICD9CM:251.4 semapv:UnspecifiedMatching -DOID:14427 abnormality of glucagon secretion oboInOwl:hasDbXref UMLS_CUI:C0154191 semapv:UnspecifiedMatching +DOID:14427 abnormality of glucagon secretion oboInOwl:hasDbXref UMLS:C0154191 semapv:UnspecifiedMatching DOID:1443 cerebral degeneration oboInOwl:hasDbXref GARD:6019 semapv:UnspecifiedMatching DOID:1443 cerebral degeneration oboInOwl:hasDbXref ICD9CM:331.9 semapv:UnspecifiedMatching -DOID:1443 cerebral degeneration oboInOwl:hasDbXref UMLS_CUI:C0154671 semapv:UnspecifiedMatching +DOID:1443 cerebral degeneration oboInOwl:hasDbXref UMLS:C0154671 semapv:UnspecifiedMatching DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref ICD10CM:H66.1 semapv:UnspecifiedMatching DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref ICD9CM:382.1 semapv:UnspecifiedMatching -DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0155440 semapv:UnspecifiedMatching +DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref UMLS:C0155440 semapv:UnspecifiedMatching DOID:14443 cholinergic urticaria oboInOwl:hasDbXref ICD10CM:L50.5 semapv:UnspecifiedMatching DOID:14443 cholinergic urticaria oboInOwl:hasDbXref ICD9CM:708.5 semapv:UnspecifiedMatching -DOID:14443 cholinergic urticaria oboInOwl:hasDbXref UMLS_CUI:C0152230 semapv:UnspecifiedMatching +DOID:14443 cholinergic urticaria oboInOwl:hasDbXref UMLS:C0152230 semapv:UnspecifiedMatching DOID:14444 sclerosing keratitis oboInOwl:hasDbXref ICD10CM:H16.33 semapv:UnspecifiedMatching DOID:14444 sclerosing keratitis oboInOwl:hasDbXref ICD9CM:370.54 semapv:UnspecifiedMatching -DOID:14444 sclerosing keratitis oboInOwl:hasDbXref UMLS_CUI:C0155090 semapv:UnspecifiedMatching +DOID:14444 sclerosing keratitis oboInOwl:hasDbXref UMLS:C0155090 semapv:UnspecifiedMatching DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.22 semapv:UnspecifiedMatching DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.23 semapv:UnspecifiedMatching -DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154947 semapv:UnspecifiedMatching +DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref UMLS:C0154947 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref GARD:2538 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref ICD9CM:758.6 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref MESH:D006059 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref NCI:C61420 semapv:UnspecifiedMatching -DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0018051 semapv:UnspecifiedMatching +DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0018051 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref MESH:D006061 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref NCI:C120198 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIM:607080 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIMPS:400044 semapv:UnspecifiedMatching -DOID:14448 46,XY sex reversal oboInOwl:hasDbXref UMLS_CUI:C0018054 semapv:UnspecifiedMatching +DOID:14448 46,XY sex reversal oboInOwl:hasDbXref UMLS:C0018054 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref MESH:D006060 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref NCI:C120199 semapv:UnspecifiedMatching -DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0018055 semapv:UnspecifiedMatching +DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0018055 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref MESH:D023961 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref NCI:C120197 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref OMIMPS:233300 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref ORDO:243 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0949595 semapv:UnspecifiedMatching +DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0949595 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis skos:exactMatch OMIMPS:233300 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref GARD:195 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching @@ -23648,7 +23956,7 @@ DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semap DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref NCI:C123429 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ORDO:682 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0238357 semapv:UnspecifiedMatching +DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis skos:exactMatch OMIM:170500 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:5557 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:6729 semapv:UnspecifiedMatching @@ -23658,89 +23966,89 @@ DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref NCI:C84775 semapv:U DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ORDO:681 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0238358 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238358 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref GARD:6427 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref ICD10CM:J67.0 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref ICD9CM:495.0 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref NCI:C34605 semapv:UnspecifiedMatching -DOID:14453 farmer's lung oboInOwl:hasDbXref UMLS_CUI:C0015634 semapv:UnspecifiedMatching +DOID:14453 farmer's lung oboInOwl:hasDbXref UMLS:C0015634 semapv:UnspecifiedMatching DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref ICD10CM:A23.0 semapv:UnspecifiedMatching DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref ICD9CM:023.0 semapv:UnspecifiedMatching -DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref UMLS_CUI:C0302362 semapv:UnspecifiedMatching +DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref UMLS:C0302362 semapv:UnspecifiedMatching DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref ICD10CM:A23.1 semapv:UnspecifiedMatching DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref ICD9CM:023.1 semapv:UnspecifiedMatching DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref MESH:D002007 semapv:UnspecifiedMatching -DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref UMLS_CUI:C0302363 semapv:UnspecifiedMatching +DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref UMLS:C0302363 semapv:UnspecifiedMatching DOID:14459 hemangioma of orbit oboInOwl:hasDbXref NCI:C6245 semapv:UnspecifiedMatching -DOID:14459 hemangioma of orbit oboInOwl:hasDbXref UMLS_CUI:C1335128 semapv:UnspecifiedMatching +DOID:14459 hemangioma of orbit oboInOwl:hasDbXref UMLS:C1335128 semapv:UnspecifiedMatching DOID:14463 cavernous hemangioma of orbit oboInOwl:hasDbXref NCI:C4546 semapv:UnspecifiedMatching -DOID:14463 cavernous hemangioma of orbit oboInOwl:hasDbXref UMLS_CUI:C0346352 semapv:UnspecifiedMatching +DOID:14463 cavernous hemangioma of orbit oboInOwl:hasDbXref UMLS:C0346352 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref GARD:7195 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10CM:G21.0 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ICD9CM:333.92 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref MESH:D009459 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref NCI:C94829 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ORDO:94093 semapv:UnspecifiedMatching -DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS_CUI:C0027849 semapv:UnspecifiedMatching +DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS:C0027849 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref GARD:69 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref MESH:D018804 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref NCI:C84747 semapv:UnspecifiedMatching -DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS_CUI:C0243025 semapv:UnspecifiedMatching +DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS:C0243025 semapv:UnspecifiedMatching DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref ICD10CM:O26.4 semapv:UnspecifiedMatching DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 semapv:UnspecifiedMatching DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref NCI:C85003 semapv:UnspecifiedMatching -DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref UMLS_CUI:C0019343 semapv:UnspecifiedMatching +DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref UMLS:C0019343 semapv:UnspecifiedMatching DOID:14483 chorea gravidarum oboInOwl:hasDbXref MESH:D020150 semapv:UnspecifiedMatching -DOID:14483 chorea gravidarum oboInOwl:hasDbXref UMLS_CUI:C0264746 semapv:UnspecifiedMatching +DOID:14483 chorea gravidarum oboInOwl:hasDbXref UMLS:C0264746 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref GARD:7692 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref ICD10CM:B42 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref ICD9CM:117.1 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref MESH:D013174 semapv:UnspecifiedMatching -DOID:14484 sporotrichosis oboInOwl:hasDbXref UMLS_CUI:C0038034 semapv:UnspecifiedMatching +DOID:14484 sporotrichosis oboInOwl:hasDbXref UMLS:C0038034 semapv:UnspecifiedMatching DOID:14489 ureteral lymphoma oboInOwl:hasDbXref NCI:C6175 semapv:UnspecifiedMatching -DOID:14489 ureteral lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336876 semapv:UnspecifiedMatching +DOID:14489 ureteral lymphoma oboInOwl:hasDbXref UMLS:C1336876 semapv:UnspecifiedMatching DOID:14491 regional ureteric cancer oboInOwl:hasDbXref NCI:C9356 semapv:UnspecifiedMatching -DOID:14491 regional ureteric cancer oboInOwl:hasDbXref UMLS_CUI:C0854921 semapv:UnspecifiedMatching +DOID:14491 regional ureteric cancer oboInOwl:hasDbXref UMLS:C0854921 semapv:UnspecifiedMatching DOID:14495 dumping syndrome oboInOwl:hasDbXref ICD10CM:K91.1 semapv:UnspecifiedMatching DOID:14495 dumping syndrome oboInOwl:hasDbXref MESH:D004377 semapv:UnspecifiedMatching DOID:14495 dumping syndrome oboInOwl:hasDbXref NCI:C2994 semapv:UnspecifiedMatching -DOID:14495 dumping syndrome oboInOwl:hasDbXref UMLS_CUI:C0013288 semapv:UnspecifiedMatching +DOID:14495 dumping syndrome oboInOwl:hasDbXref UMLS:C0013288 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref GARD:7899 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref ICD10CM:E75.5 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref MESH:C564736 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref NCI:C61271 semapv:UnspecifiedMatching -DOID:14497 Wolman disease oboInOwl:hasDbXref UMLS_CUI:C0043208 semapv:UnspecifiedMatching +DOID:14497 Wolman disease oboInOwl:hasDbXref UMLS:C0043208 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref GARD:3268 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref MESH:D008065 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref NCI:C84829 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref OMIM:247100 semapv:UnspecifiedMatching -DOID:14498 lipoid proteinosis oboInOwl:hasDbXref UMLS_CUI:C0023795 semapv:UnspecifiedMatching +DOID:14498 lipoid proteinosis oboInOwl:hasDbXref UMLS:C0023795 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis skos:exactMatch OMIM:247100 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref GARD:6400 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref ICD10CM:E75.21 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref MESH:D000795 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref NCI:C84701 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref OMIM:301500 semapv:UnspecifiedMatching -DOID:14499 Fabry disease oboInOwl:hasDbXref UMLS_CUI:C0002986 semapv:UnspecifiedMatching +DOID:14499 Fabry disease oboInOwl:hasDbXref UMLS:C0002986 semapv:UnspecifiedMatching DOID:14499 Fabry disease skos:exactMatch OMIM:301500 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref GARD:6473 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref ICD10CM:E77.1 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref MESH:D005645 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref NCI:C61274 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching -DOID:14500 fucosidosis oboInOwl:hasDbXref UMLS_CUI:C0016788 semapv:UnspecifiedMatching +DOID:14500 fucosidosis oboInOwl:hasDbXref UMLS:C0016788 semapv:UnspecifiedMatching DOID:14500 fucosidosis skos:exactMatch OMIM:230000 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref GARD:7654 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref NCI:C85070 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref ORDO:816 semapv:UnspecifiedMatching -DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref UMLS_CUI:C0037231 semapv:UnspecifiedMatching +DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref UMLS:C0037231 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome skos:exactMatch OMIM:270200 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref MESH:D015217 semapv:UnspecifiedMatching -DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref UMLS_CUI:C0008384 semapv:UnspecifiedMatching +DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref UMLS:C0008384 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease skos:exactMatch MESH:D015217 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref GARD:10739 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching @@ -23749,76 +24057,76 @@ DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref NCI:C61257 semapv:U DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIMPS:256730 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ORDO:216 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ORDO:79262 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS_CUI:C0027877 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis skos:exactMatch OMIMPS:256730 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref GARD:13334 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref ICD10CM:E75.24 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref MESH:D009542 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref NCI:C61269 semapv:UnspecifiedMatching -DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref UMLS_CUI:C0028064 semapv:UnspecifiedMatching +DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref UMLS:C0028064 semapv:UnspecifiedMatching DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref ICD10CM:H18.46 semapv:UnspecifiedMatching DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref ICD9CM:371.48 semapv:UnspecifiedMatching -DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref UMLS_CUI:C0155123 semapv:UnspecifiedMatching +DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref UMLS:C0155123 semapv:UnspecifiedMatching DOID:14512 candidal paronychia oboInOwl:hasDbXref ICD10CM:B37.2 semapv:UnspecifiedMatching DOID:14512 candidal paronychia oboInOwl:hasDbXref ICD9CM:112.3 semapv:UnspecifiedMatching -DOID:14512 candidal paronychia oboInOwl:hasDbXref UMLS_CUI:C0006842 semapv:UnspecifiedMatching +DOID:14512 candidal paronychia oboInOwl:hasDbXref UMLS:C0006842 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref GARD:5528 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref MESH:D017624 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref NCI:C3718 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching -DOID:14515 WAGR syndrome oboInOwl:hasDbXref UMLS_CUI:C0206115 semapv:UnspecifiedMatching +DOID:14515 WAGR syndrome oboInOwl:hasDbXref UMLS:C0206115 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome skos:exactMatch OMIM:194072 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref ICD10CM:H34.21 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref ICD9CM:362.33 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref NCI:C35192 semapv:UnspecifiedMatching -DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref UMLS_CUI:C0154839 semapv:UnspecifiedMatching +DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref UMLS:C0154839 semapv:UnspecifiedMatching DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref ICD10CM:H57.01 semapv:UnspecifiedMatching DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref ICD9CM:379.45 semapv:UnspecifiedMatching -DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref UMLS_CUI:C0155375 semapv:UnspecifiedMatching +DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref UMLS:C0155375 semapv:UnspecifiedMatching DOID:14524 senile degeneration of brain oboInOwl:hasDbXref ICD9CM:331.2 semapv:UnspecifiedMatching -DOID:14524 senile degeneration of brain oboInOwl:hasDbXref UMLS_CUI:C0154669 semapv:UnspecifiedMatching +DOID:14524 senile degeneration of brain oboInOwl:hasDbXref UMLS:C0154669 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref GARD:7570 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref ICD10CM:G93.7 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref ICD9CM:331.81 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref MESH:D012202 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref NCI:C34983 semapv:UnspecifiedMatching -DOID:14525 Reye syndrome oboInOwl:hasDbXref UMLS_CUI:C0035400 semapv:UnspecifiedMatching +DOID:14525 Reye syndrome oboInOwl:hasDbXref UMLS:C0035400 semapv:UnspecifiedMatching DOID:14529 external pathological resorption oboInOwl:hasDbXref ICD10CM:K03.3 semapv:UnspecifiedMatching DOID:14529 external pathological resorption oboInOwl:hasDbXref ICD9CM:521.42 semapv:UnspecifiedMatching -DOID:14529 external pathological resorption oboInOwl:hasDbXref UMLS_CUI:C0266878 semapv:UnspecifiedMatching +DOID:14529 external pathological resorption oboInOwl:hasDbXref UMLS:C0266878 semapv:UnspecifiedMatching DOID:1453 atrophic glossitis oboInOwl:hasDbXref ICD10CM:K14.4 semapv:UnspecifiedMatching DOID:1453 atrophic glossitis oboInOwl:hasDbXref ICD9CM:529.4 semapv:UnspecifiedMatching -DOID:1453 atrophic glossitis oboInOwl:hasDbXref UMLS_CUI:C0155964 semapv:UnspecifiedMatching +DOID:1453 atrophic glossitis oboInOwl:hasDbXref UMLS:C0155964 semapv:UnspecifiedMatching DOID:14534 malignant cardiac peripheral nerve sheath neoplasm oboInOwl:hasDbXref NCI:C5367 semapv:UnspecifiedMatching -DOID:14534 malignant cardiac peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334569 semapv:UnspecifiedMatching +DOID:14534 malignant cardiac peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS:C1334569 semapv:UnspecifiedMatching DOID:14535 malignant cardiac germ cell tumor oboInOwl:hasDbXref NCI:C5371 semapv:UnspecifiedMatching -DOID:14535 malignant cardiac germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334566 semapv:UnspecifiedMatching +DOID:14535 malignant cardiac germ cell tumor oboInOwl:hasDbXref UMLS:C1334566 semapv:UnspecifiedMatching DOID:14544 rete testis adenocarcinoma oboInOwl:hasDbXref NCI:C8955 semapv:UnspecifiedMatching -DOID:14544 rete testis adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0863024 semapv:UnspecifiedMatching +DOID:14544 rete testis adenocarcinoma oboInOwl:hasDbXref UMLS:C0863024 semapv:UnspecifiedMatching DOID:14545 seminal vesicle adenocarcinoma oboInOwl:hasDbXref NCI:C39906 semapv:UnspecifiedMatching -DOID:14545 seminal vesicle adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519233 semapv:UnspecifiedMatching +DOID:14545 seminal vesicle adenocarcinoma oboInOwl:hasDbXref UMLS:C1519233 semapv:UnspecifiedMatching DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref ICD10CM:C31.3 semapv:UnspecifiedMatching DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref ICD9CM:160.5 semapv:UnspecifiedMatching DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref NCI:C3543 semapv:UnspecifiedMatching -DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153479 semapv:UnspecifiedMatching +DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref UMLS:C0153479 semapv:UnspecifiedMatching DOID:14547 sphenoid sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6066 semapv:UnspecifiedMatching -DOID:14547 sphenoid sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336039 semapv:UnspecifiedMatching +DOID:14547 sphenoid sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1336039 semapv:UnspecifiedMatching DOID:14548 steroid-induced glaucoma - borderline oboInOwl:hasDbXref ICD9CM:365.03 semapv:UnspecifiedMatching -DOID:14548 steroid-induced glaucoma - borderline oboInOwl:hasDbXref UMLS_CUI:C0339572 semapv:UnspecifiedMatching +DOID:14548 steroid-induced glaucoma - borderline oboInOwl:hasDbXref UMLS:C0339572 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref GARD:6493 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref ICD10CM:K14.1 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref ICD9CM:529.1 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref MESH:D005929 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref NCI:C84588 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching -DOID:1455 geographic tongue oboInOwl:hasDbXref UMLS_CUI:C0017677 semapv:UnspecifiedMatching +DOID:1455 geographic tongue oboInOwl:hasDbXref UMLS:C0017677 semapv:UnspecifiedMatching DOID:1455 geographic tongue skos:exactMatch OMIM:137400 semapv:UnspecifiedMatching DOID:14550 root resorption oboInOwl:hasDbXref MESH:D012391 semapv:UnspecifiedMatching -DOID:14550 root resorption oboInOwl:hasDbXref UMLS_CUI:C0035851 semapv:UnspecifiedMatching +DOID:14550 root resorption oboInOwl:hasDbXref UMLS:C0035851 semapv:UnspecifiedMatching DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref ICD10CM:H47.14 semapv:UnspecifiedMatching DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref ICD9CM:377.04 semapv:UnspecifiedMatching DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref MESH:D009901 semapv:UnspecifiedMatching -DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref UMLS_CUI:C0152112 semapv:UnspecifiedMatching +DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref UMLS:C0152112 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD10CM:I27.0 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD9CM:416.0 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching @@ -23827,125 +24135,125 @@ DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615342 semapv: DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615343 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ORDO:422 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref UMLS_CUI:C0152171 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref UMLS:C0152171 semapv:UnspecifiedMatching DOID:14559 anaerobic meningitis oboInOwl:hasDbXref ICD9CM:320.81 semapv:UnspecifiedMatching -DOID:14559 anaerobic meningitis oboInOwl:hasDbXref UMLS_CUI:C0375197 semapv:UnspecifiedMatching +DOID:14559 anaerobic meningitis oboInOwl:hasDbXref UMLS:C0375197 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref ICD10CM:K14.0 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref ICD9CM:529.0 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref MESH:D005928 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref NCI:C112199 semapv:UnspecifiedMatching -DOID:1456 glossitis oboInOwl:hasDbXref UMLS_CUI:C0017675 semapv:UnspecifiedMatching +DOID:1456 glossitis oboInOwl:hasDbXref UMLS:C0017675 semapv:UnspecifiedMatching DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref ICD10CM:E89.0 semapv:UnspecifiedMatching DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref ICD9CM:244.0 semapv:UnspecifiedMatching -DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0154157 semapv:UnspecifiedMatching +DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref UMLS:C0154157 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref EFO:0004705 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref ICD10CM:E03.9 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref ICD9CM:244.9 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref MESH:D007037 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref NCI:C26800 semapv:UnspecifiedMatching -DOID:1459 hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0020676 semapv:UnspecifiedMatching +DOID:1459 hypothyroidism oboInOwl:hasDbXref UMLS:C0020676 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref GARD:7318 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref ICD10CM:H47.1 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref ICD9CM:377.0 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref NCI:C3307 semapv:UnspecifiedMatching -DOID:146 papilledema oboInOwl:hasDbXref UMLS_CUI:C0030353 semapv:UnspecifiedMatching +DOID:146 papilledema oboInOwl:hasDbXref UMLS:C0030353 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref ICD10CM:I75 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref ICD9CM:445 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref MESH:D017700 semapv:UnspecifiedMatching -DOID:1461 cholesterol embolism oboInOwl:hasDbXref UMLS_CUI:C0149649 semapv:UnspecifiedMatching +DOID:1461 cholesterol embolism oboInOwl:hasDbXref UMLS:C0149649 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref ICD10CM:N41.9 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref ICD9CM:601.9 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref MESH:D011472 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref NCI:C26866 semapv:UnspecifiedMatching -DOID:14654 prostatitis oboInOwl:hasDbXref UMLS_CUI:C0033581 semapv:UnspecifiedMatching +DOID:14654 prostatitis oboInOwl:hasDbXref UMLS:C0033581 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:2015 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:5724 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref OMIM:101800 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref OMIM:614613 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref ORDO:950 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref UMLS_CUI:C0220659 semapv:UnspecifiedMatching +DOID:14669 acrodysostosis oboInOwl:hasDbXref UMLS:C0220659 semapv:UnspecifiedMatching DOID:1467 serous labyrinthitis oboInOwl:hasDbXref ICD9CM:386.31 semapv:UnspecifiedMatching -DOID:1467 serous labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155504 semapv:UnspecifiedMatching +DOID:1467 serous labyrinthitis oboInOwl:hasDbXref UMLS:C0155504 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref MESH:C537632 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref OMIM:239800 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref ORDO:2213 semapv:UnspecifiedMatching -DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref UMLS_CUI:C0220742 semapv:UnspecifiedMatching +DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref UMLS:C0220742 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome skos:exactMatch OMIM:239800 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref GARD:3013 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref MEDDRA:10028210 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref MESH:C562441 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref ORDO:2300 semapv:UnspecifiedMatching -DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref UMLS_CUI:C0220744 semapv:UnspecifiedMatching +DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref UMLS:C0220744 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia skos:exactMatch OMIM:243150 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref GARD:5443 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref MESH:C536534 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching -DOID:14679 VACTERL association oboInOwl:hasDbXref UMLS_CUI:C0220708 semapv:UnspecifiedMatching +DOID:14679 VACTERL association oboInOwl:hasDbXref UMLS:C0220708 semapv:UnspecifiedMatching DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD10CM:H83.0 semapv:UnspecifiedMatching DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD9CM:386.3 semapv:UnspecifiedMatching DOID:1468 labyrinthitis oboInOwl:hasDbXref MESH:D007762 semapv:UnspecifiedMatching -DOID:1468 labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0022893 semapv:UnspecifiedMatching +DOID:1468 labyrinthitis oboInOwl:hasDbXref UMLS:C0022893 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref GARD:4870 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref NCI:C85068 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 semapv:UnspecifiedMatching -DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref UMLS_CUI:C0175693 semapv:UnspecifiedMatching +DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref UMLS:C0175693 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome skos:exactMatch OMIM:180860 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref GARD:6992 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref MESH:C536036 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref OMIM:155050 semapv:UnspecifiedMatching -DOID:14683 Binder syndrome oboInOwl:hasDbXref UMLS_CUI:C0220692 semapv:UnspecifiedMatching +DOID:14683 Binder syndrome oboInOwl:hasDbXref UMLS:C0220692 semapv:UnspecifiedMatching DOID:14683 Binder syndrome skos:exactMatch OMIM:155050 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref GARD:5701 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10CM:Q13.81 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref NCI:C131001 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ORDO:782 semapv:UnspecifiedMatching -DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS_CUI:C0265341 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS:C0265341 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref GARD:6275 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref ICD10CM:Q77.5 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref MESH:C536170 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref NCI:C156311 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching -DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0220726 semapv:UnspecifiedMatching +DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref UMLS:C0220726 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia skos:exactMatch OMIM:222600 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref GARD:5683 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10CM:E78.72 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MESH:D019082 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref NCI:C85071 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref OMIM:270400 semapv:UnspecifiedMatching -DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS_CUI:C0175694 semapv:UnspecifiedMatching +DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS:C0175694 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome skos:exactMatch OMIM:270400 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref GARD:2056 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching -DOID:14693 Clouston syndrome oboInOwl:hasDbXref UMLS_CUI:C0162361 semapv:UnspecifiedMatching +DOID:14693 Clouston syndrome oboInOwl:hasDbXref UMLS:C0162361 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome skos:exactMatch OMIM:129500 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref GARD:80 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref MESH:C535880 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref OMIM:243800 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref ORDO:2315 semapv:UnspecifiedMatching -DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS_CUI:C0175692 semapv:UnspecifiedMatching +DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS:C0175692 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome skos:exactMatch OMIM:243800 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref GARD:2422 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref ICD10CM:E74.29 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref NCI:C114767 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching -DOID:14695 galactokinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268155 semapv:UnspecifiedMatching +DOID:14695 galactokinase deficiency oboInOwl:hasDbXref UMLS:C0268155 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency skos:exactMatch OMIM:230200 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MESH:C536940 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref NCI:C99038 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ORDO:3320 semapv:UnspecifiedMatching -DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS_CUI:C0175703 semapv:UnspecifiedMatching +DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS:C0175703 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome skos:exactMatch OMIM:274000 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref EFO:0003761 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F32 semapv:UnspecifiedMatching @@ -23955,27 +24263,27 @@ DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD9CM:296.3 semapv:Unspe DOID:1470 major depressive disorder oboInOwl:hasDbXref NCI:C34796 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608520 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608691 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0024517 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0154409 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS:C0024517 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS:C0154409 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref GARD:467 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref ICD10CM:E71.121 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref NCI:C85030 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref OMIM:606054 semapv:UnspecifiedMatching -DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS_CUI:C0268579 semapv:UnspecifiedMatching -DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS_CUI:C2717876 semapv:UnspecifiedMatching +DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS:C0268579 semapv:UnspecifiedMatching +DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS:C2717876 semapv:UnspecifiedMatching DOID:14701 propionic acidemia skos:exactMatch OMIM:606054 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref GARD:10147 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MEDDRA:10071135 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MESH:D019280 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref NCI:C98983 semapv:UnspecifiedMatching -DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0265234 semapv:UnspecifiedMatching +DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref UMLS:C0265234 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref GARD:7380 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref NCI:C99100 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref ORDO:710 semapv:UnspecifiedMatching -DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref UMLS_CUI:C0220658 semapv:UnspecifiedMatching +DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref UMLS:C0220658 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome skos:exactMatch OMIM:101600 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref GARD:2317 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref MESH:C537923 semapv:UnspecifiedMatching @@ -23986,7 +24294,7 @@ DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300581 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:305450 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref ORDO:323 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref ORDO:93932 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref UMLS_CUI:C0220769 semapv:UnspecifiedMatching +DOID:14711 FG syndrome oboInOwl:hasDbXref UMLS:C0220769 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref GARD:101 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ICD10CM:G71.22 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching @@ -23995,56 +24303,56 @@ DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:595 semapv:Unspecified DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:596 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:69186 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:69189 semapv:UnspecifiedMatching -DOID:14717 centronuclear myopathy oboInOwl:hasDbXref UMLS_CUI:C0175709 semapv:UnspecifiedMatching +DOID:14717 centronuclear myopathy oboInOwl:hasDbXref UMLS:C0175709 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref MESH:C536194 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref NCI:C125696 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref OMIM:130000 semapv:UnspecifiedMatching -DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref UMLS_CUI:C0268335 semapv:UnspecifiedMatching +DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref UMLS:C0268335 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 skos:exactMatch OMIM:130000 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref GARD:872 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref MESH:C535818 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref OMIM:203750 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref ORDO:134 semapv:UnspecifiedMatching -DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS_CUI:C1533628 semapv:UnspecifiedMatching +DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS:C1533628 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency skos:exactMatch OMIM:203750 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref OMIM:156580 semapv:UnspecifiedMatching -DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref UMLS_CUI:C0220693 semapv:UnspecifiedMatching +DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref UMLS:C0220693 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly skos:exactMatch OMIM:156580 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref GARD:5545 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref GARD:7878 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref MESH:C562443 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching -DOID:14731 Weaver syndrome oboInOwl:hasDbXref UMLS_CUI:C0220765 semapv:UnspecifiedMatching +DOID:14731 Weaver syndrome oboInOwl:hasDbXref UMLS:C0220765 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome skos:exactMatch OMIM:277590 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref GARD:5979 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref MESH:D054179 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref NCI:C84758 semapv:UnspecifiedMatching -DOID:14735 hereditary angioedema oboInOwl:hasDbXref UMLS_CUI:C0019243 semapv:UnspecifiedMatching +DOID:14735 hereditary angioedema oboInOwl:hasDbXref UMLS:C0019243 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema skos:exactMatch MESH:D054179 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref GARD:1578 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref ORDO:1520 semapv:UnspecifiedMatching -DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref UMLS_CUI:C0220767 semapv:UnspecifiedMatching +DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref UMLS:C0220767 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome skos:exactMatch OMIM:304110 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref ICD10CM:K05.2 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:170650 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:608526 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031106 semapv:UnspecifiedMatching +DOID:1474 aggressive periodontitis oboInOwl:hasDbXref UMLS:C0031106 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis skos:exactMatch MESH:D010520 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref MESH:C536820 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref NCI:C75109 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref OMIM:190350 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref ORDO:77258 semapv:UnspecifiedMatching -DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref UMLS_CUI:C0432233 semapv:UnspecifiedMatching +DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref UMLS:C0432233 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190350 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref GARD:4235 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref MESH:C562446 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref ORDO:94083 semapv:UnspecifiedMatching -DOID:14744 Partington syndrome oboInOwl:hasDbXref UMLS_CUI:C0220775 semapv:UnspecifiedMatching +DOID:14744 Partington syndrome oboInOwl:hasDbXref UMLS:C0220775 semapv:UnspecifiedMatching DOID:14744 Partington syndrome skos:exactMatch OMIM:309510 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref GARD:10091 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching @@ -24052,7 +24360,7 @@ DOID:14748 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatc DOID:14748 Sotos syndrome oboInOwl:hasDbXref NCI:C75019 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref OMIMPS:117550 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref ORDO:821 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref UMLS_CUI:C0175695 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref UMLS:C0175695 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome skos:exactMatch OMIMPS:117550 semapv:UnspecifiedMatching DOID:14749 methylmalonic acidemia oboInOwl:hasDbXref GARD:7033 semapv:UnspecifiedMatching DOID:14749 methylmalonic acidemia oboInOwl:hasDbXref MESH:C537358 semapv:UnspecifiedMatching @@ -24062,19 +24370,19 @@ DOID:1475 lymphangioma oboInOwl:hasDbXref ICD9CM:228.1 semapv:UnspecifiedMatchin DOID:1475 lymphangioma oboInOwl:hasDbXref ICDO:9170/0 semapv:UnspecifiedMatching DOID:1475 lymphangioma oboInOwl:hasDbXref MESH:D008202 semapv:UnspecifiedMatching DOID:1475 lymphangioma oboInOwl:hasDbXref NCI:C8965 semapv:UnspecifiedMatching -DOID:1475 lymphangioma oboInOwl:hasDbXref UMLS_CUI:C0024221 semapv:UnspecifiedMatching +DOID:1475 lymphangioma oboInOwl:hasDbXref UMLS:C0024221 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref GARD:465 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref ICD10CM:E71.110 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref NCI:C98964 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref UMLS_CUI:C0268575 semapv:UnspecifiedMatching +DOID:14753 isovaleric acidemia oboInOwl:hasDbXref UMLS:C0268575 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia skos:exactMatch OMIM:243500 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref GARD:5843 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref NCI:C84569 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 semapv:UnspecifiedMatching -DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref UMLS_CUI:C0268547 semapv:UnspecifiedMatching +DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref UMLS:C0268547 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria skos:exactMatch OMIM:207900 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref GARD:2082 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref NCI:C125699 semapv:UnspecifiedMatching @@ -24086,17 +24394,17 @@ DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref ICD10CM: DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref MESH:C536196 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref NCI:C125698 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref UMLS_CUI:C0268337 semapv:UnspecifiedMatching +DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref UMLS:C0268337 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type skos:exactMatch OMIM:130020 semapv:UnspecifiedMatching -DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS_CUI:C0268340 semapv:UnspecifiedMatching +DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268340 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref GARD:6550 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MESH:C537300 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref NCI:C35255 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref OMIM:175700 semapv:UnspecifiedMatching -DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS_CUI:C0265306 semapv:UnspecifiedMatching +DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS:C0265306 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome skos:exactMatch OMIM:175700 semapv:UnspecifiedMatching DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching -DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref UMLS_CUI:C0175700 semapv:UnspecifiedMatching +DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref UMLS:C0175700 semapv:UnspecifiedMatching DOID:14762 calcaneonavicular coalition skos:exactMatch OMIM:186400 semapv:UnspecifiedMatching DOID:14764 Larsen syndrome oboInOwl:hasDbXref GARD:6860 semapv:UnspecifiedMatching DOID:14764 Larsen syndrome oboInOwl:hasDbXref MESH:C580241 semapv:UnspecifiedMatching @@ -24113,35 +24421,35 @@ DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref NCI:C75034 semapv:Unspeci DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:101400 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref ORDO:794 semapv:UnspecifiedMatching -DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS_CUI:C0175699 semapv:UnspecifiedMatching +DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS:C0175699 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref NCI:C61245 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250250 semapv:UnspecifiedMatching -DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0220748 semapv:UnspecifiedMatching +DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS:C0220748 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia skos:exactMatch OMIM:250250 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref GARD:1019 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref MESH:C536198 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref NCI:C125700 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching -DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0268342 semapv:UnspecifiedMatching +DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref UMLS:C0268342 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 skos:exactMatch OMIM:229200 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref GARD:2159 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching -DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0220669 semapv:UnspecifiedMatching +DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref MESH:C562419 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching -DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref UMLS_CUI:C0220663 semapv:UnspecifiedMatching +DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref UMLS:C0220663 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch OMIM:110100 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref GARD:82 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref MESH:C537015 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref OMIM:148050 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref ORDO:2332 semapv:UnspecifiedMatching -DOID:14780 KBG syndrome oboInOwl:hasDbXref UMLS_CUI:C0220687 semapv:UnspecifiedMatching +DOID:14780 KBG syndrome oboInOwl:hasDbXref UMLS:C0220687 semapv:UnspecifiedMatching DOID:14780 KBG syndrome skos:exactMatch OMIM:148050 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref MESH:D009849 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref NCI:C84947 semapv:UnspecifiedMatching -DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref UMLS_CUI:C0028968 semapv:UnspecifiedMatching +DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref UMLS:C0028968 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref GARD:4987 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MESH:C535788 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref OMIM:183900 semapv:UnspecifiedMatching @@ -24151,28 +24459,28 @@ DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref MESH:D057130 semapv:Uns DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref NCI:C129075 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref OMIMPS:204000 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref ORDO:65 semapv:UnspecifiedMatching -DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref UMLS_CUI:C0339527 semapv:UnspecifiedMatching +DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref UMLS:C0339527 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis skos:exactMatch OMIMPS:204000 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref GARD:76 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ORDO:238468 semapv:UnspecifiedMatching -DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0162359 semapv:UnspecifiedMatching +DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref GARD:6290 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MEDDRA:10059589 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MESH:C535718 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref NCI:C125591 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref OMIM:223370 semapv:UnspecifiedMatching -DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref UMLS_CUI:C0175691 semapv:UnspecifiedMatching +DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref UMLS:C0175691 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome skos:exactMatch OMIM:223370 semapv:UnspecifiedMatching DOID:14798 Blount's disease oboInOwl:hasDbXref GARD:916 semapv:UnspecifiedMatching DOID:14798 Blount's disease oboInOwl:hasDbXref OMIM:188700 semapv:UnspecifiedMatching DOID:14798 Blount's disease oboInOwl:hasDbXref OMIM:259200 semapv:UnspecifiedMatching -DOID:14798 Blount's disease oboInOwl:hasDbXref UMLS_CUI:C0220757 semapv:UnspecifiedMatching +DOID:14798 Blount's disease oboInOwl:hasDbXref UMLS:C0220757 semapv:UnspecifiedMatching DOID:1483 gingival disease oboInOwl:hasDbXref MESH:D005882 semapv:UnspecifiedMatching DOID:1483 gingival disease oboInOwl:hasDbXref NCI:C173795 semapv:UnspecifiedMatching -DOID:1483 gingival disease oboInOwl:hasDbXref UMLS_CUI:C0017563 semapv:UnspecifiedMatching +DOID:1483 gingival disease oboInOwl:hasDbXref UMLS:C0017563 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref GARD:6233 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD10CM:E84 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD9CM:277.0 semapv:UnspecifiedMatching @@ -24180,85 +24488,85 @@ DOID:1485 cystic fibrosis oboInOwl:hasDbXref MESH:D003550 semapv:UnspecifiedMatc DOID:1485 cystic fibrosis oboInOwl:hasDbXref NCI:C2975 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref OMIM:219700 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref ORDO:586 semapv:UnspecifiedMatching -DOID:1485 cystic fibrosis oboInOwl:hasDbXref UMLS_CUI:C0010674 semapv:UnspecifiedMatching +DOID:1485 cystic fibrosis oboInOwl:hasDbXref UMLS:C0010674 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis skos:exactMatch MESH:D003550 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis skos:exactMatch OMIM:219700 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref ICD10CM:H35.00 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref ICD9CM:362.10 semapv:UnspecifiedMatching -DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref UMLS_CUI:C0004608 semapv:UnspecifiedMatching +DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref UMLS:C0004608 semapv:UnspecifiedMatching DOID:1495 cystic echinococcosis oboInOwl:hasDbXref ICD10CM:B67.4 semapv:UnspecifiedMatching DOID:1495 cystic echinococcosis oboInOwl:hasDbXref ICD9CM:122.4 semapv:UnspecifiedMatching -DOID:1495 cystic echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0152068 semapv:UnspecifiedMatching +DOID:1495 cystic echinococcosis oboInOwl:hasDbXref UMLS:C0152068 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref ICD10CM:B67 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref ICD9CM:122 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref MESH:D004443 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref NCI:C84682 semapv:UnspecifiedMatching -DOID:1496 echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0013502 semapv:UnspecifiedMatching +DOID:1496 echinococcosis oboInOwl:hasDbXref UMLS:C0013502 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref GARD:6043 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref ICD10CM:A00 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref ICD9CM:001 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref MESH:D002771 semapv:UnspecifiedMatching -DOID:1498 cholera oboInOwl:hasDbXref UMLS_CUI:C0008354 semapv:UnspecifiedMatching +DOID:1498 cholera oboInOwl:hasDbXref UMLS:C0008354 semapv:UnspecifiedMatching DOID:1498 cholera skos:exactMatch MESH:D002771 semapv:UnspecifiedMatching DOID:15 reproductive system disease oboInOwl:hasDbXref NCI:C27613 semapv:UnspecifiedMatching -DOID:15 reproductive system disease oboInOwl:hasDbXref UMLS_CUI:C1335037 semapv:UnspecifiedMatching +DOID:15 reproductive system disease oboInOwl:hasDbXref UMLS:C1335037 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref ICD10CM:F99 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref MESH:D001523 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref NCI:C2893 semapv:UnspecifiedMatching -DOID:150 disease of mental health oboInOwl:hasDbXref UMLS_CUI:C0004936 semapv:UnspecifiedMatching +DOID:150 disease of mental health oboInOwl:hasDbXref UMLS:C0004936 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref ICD10CM:B37 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref ICD9CM:112 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref MESH:D002177 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref NCI:C26711 semapv:UnspecifiedMatching -DOID:1508 candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006840 semapv:UnspecifiedMatching +DOID:1508 candidiasis oboInOwl:hasDbXref UMLS:C0006840 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref ICD10CM:F60.6 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref ICD9CM:301.82 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref MESH:D010554 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref NCI:C92636 semapv:UnspecifiedMatching -DOID:1509 avoidant personality disorder oboInOwl:hasDbXref UMLS_CUI:C0004444 semapv:UnspecifiedMatching +DOID:1509 avoidant personality disorder oboInOwl:hasDbXref UMLS:C0004444 semapv:UnspecifiedMatching DOID:1510 personality disorder oboInOwl:hasDbXref ICD9CM:301.8 semapv:UnspecifiedMatching -DOID:1510 personality disorder oboInOwl:hasDbXref UMLS_CUI:C0029707 semapv:UnspecifiedMatching +DOID:1510 personality disorder oboInOwl:hasDbXref UMLS:C0029707 semapv:UnspecifiedMatching DOID:1512 chronic gonorrhea of cervix oboInOwl:hasDbXref ICD9CM:098.35 semapv:UnspecifiedMatching -DOID:1512 chronic gonorrhea of cervix oboInOwl:hasDbXref UMLS_CUI:C0153206 semapv:UnspecifiedMatching +DOID:1512 chronic gonorrhea of cervix oboInOwl:hasDbXref UMLS:C0153206 semapv:UnspecifiedMatching DOID:1513 chronic cervicitis oboInOwl:hasDbXref NCI:C27057 semapv:UnspecifiedMatching -DOID:1513 chronic cervicitis oboInOwl:hasDbXref UMLS_CUI:C0269062 semapv:UnspecifiedMatching +DOID:1513 chronic cervicitis oboInOwl:hasDbXref UMLS:C0269062 semapv:UnspecifiedMatching DOID:1517 cecal benign neoplasm oboInOwl:hasDbXref MESH:D002430 semapv:UnspecifiedMatching DOID:1517 cecal benign neoplasm oboInOwl:hasDbXref NCI:C4433 semapv:UnspecifiedMatching -DOID:1517 cecal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0007528 semapv:UnspecifiedMatching +DOID:1517 cecal benign neoplasm oboInOwl:hasDbXref UMLS:C0007528 semapv:UnspecifiedMatching DOID:1518 cecal disease oboInOwl:hasDbXref MESH:D002429 semapv:UnspecifiedMatching -DOID:1518 cecal disease oboInOwl:hasDbXref UMLS_CUI:C0007527 semapv:UnspecifiedMatching +DOID:1518 cecal disease oboInOwl:hasDbXref UMLS:C0007527 semapv:UnspecifiedMatching DOID:1519 cecum carcinoma oboInOwl:hasDbXref NCI:C3491 semapv:UnspecifiedMatching -DOID:1519 cecum carcinoma oboInOwl:hasDbXref UMLS_CUI:C0149640 semapv:UnspecifiedMatching +DOID:1519 cecum carcinoma oboInOwl:hasDbXref UMLS:C0149640 semapv:UnspecifiedMatching DOID:1520 colon carcinoma oboInOwl:hasDbXref NCI:C4910 semapv:UnspecifiedMatching -DOID:1520 colon carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699790 semapv:UnspecifiedMatching +DOID:1520 colon carcinoma oboInOwl:hasDbXref UMLS:C0699790 semapv:UnspecifiedMatching DOID:1521 cecum cancer oboInOwl:hasDbXref ICD10CM:C18.0 semapv:UnspecifiedMatching DOID:1521 cecum cancer oboInOwl:hasDbXref ICD9CM:153.4 semapv:UnspecifiedMatching DOID:1521 cecum cancer oboInOwl:hasDbXref MESH:D002430 semapv:UnspecifiedMatching DOID:1521 cecum cancer oboInOwl:hasDbXref NCI:C9329 semapv:UnspecifiedMatching -DOID:1521 cecum cancer oboInOwl:hasDbXref UMLS_CUI:C0153437 semapv:UnspecifiedMatching +DOID:1521 cecum cancer oboInOwl:hasDbXref UMLS:C0153437 semapv:UnspecifiedMatching DOID:1522 cecum lymphoma oboInOwl:hasDbXref NCI:C5515 semapv:UnspecifiedMatching -DOID:1522 cecum lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332867 semapv:UnspecifiedMatching +DOID:1522 cecum lymphoma oboInOwl:hasDbXref UMLS:C1332867 semapv:UnspecifiedMatching DOID:1523 colon lymphoma oboInOwl:hasDbXref NCI:C4793 semapv:UnspecifiedMatching -DOID:1523 colon lymphoma oboInOwl:hasDbXref UMLS_CUI:C0519037 semapv:UnspecifiedMatching +DOID:1523 colon lymphoma oboInOwl:hasDbXref UMLS:C0519037 semapv:UnspecifiedMatching DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref ICD10CM:M35.6 semapv:UnspecifiedMatching DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref MESH:D010201 semapv:UnspecifiedMatching -DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref UMLS_CUI:C0030328 semapv:UnspecifiedMatching +DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref UMLS:C0030328 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref ICD10CM:M79.3 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref ICD9CM:729.30 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref MESH:D015434 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref NCI:C112112 semapv:UnspecifiedMatching -DOID:1526 panniculitis oboInOwl:hasDbXref UMLS_CUI:C0030326 semapv:UnspecifiedMatching +DOID:1526 panniculitis oboInOwl:hasDbXref UMLS:C0030326 semapv:UnspecifiedMatching DOID:1529 penile disease oboInOwl:hasDbXref ICD10CM:N48.8 semapv:UnspecifiedMatching DOID:1529 penile disease oboInOwl:hasDbXref ICD9CM:607.8 semapv:UnspecifiedMatching -DOID:1529 penile disease oboInOwl:hasDbXref UMLS_CUI:C0029785 semapv:UnspecifiedMatching +DOID:1529 penile disease oboInOwl:hasDbXref UMLS:C0029785 semapv:UnspecifiedMatching DOID:1532 pleural disease oboInOwl:hasDbXref MESH:D010995 semapv:UnspecifiedMatching DOID:1532 pleural disease oboInOwl:hasDbXref NCI:C26859 semapv:UnspecifiedMatching -DOID:1532 pleural disease oboInOwl:hasDbXref UMLS_CUI:C0032226 semapv:UnspecifiedMatching +DOID:1532 pleural disease oboInOwl:hasDbXref UMLS:C0032226 semapv:UnspecifiedMatching DOID:154 mixed cell type cancer oboInOwl:hasDbXref MESH:D018198 semapv:UnspecifiedMatching DOID:154 mixed cell type cancer oboInOwl:hasDbXref NCI:C3729 semapv:UnspecifiedMatching DOID:154 mixed cell type cancer oboInOwl:hasDbXref NCI:C6930 semapv:UnspecifiedMatching -DOID:154 mixed cell type cancer oboInOwl:hasDbXref UMLS_CUI:C0206625 semapv:UnspecifiedMatching -DOID:154 mixed cell type cancer oboInOwl:hasDbXref UMLS_CUI:C1368354 semapv:UnspecifiedMatching +DOID:154 mixed cell type cancer oboInOwl:hasDbXref UMLS:C0206625 semapv:UnspecifiedMatching +DOID:154 mixed cell type cancer oboInOwl:hasDbXref UMLS:C1368354 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref GARD:7329 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref ICD10CM:C75.0 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref ICD9CM:194.1 semapv:UnspecifiedMatching @@ -24267,92 +24575,92 @@ DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C3313 semapv:UnspecifiedM DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C4906 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C9322 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0030521 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153653 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0687150 semapv:UnspecifiedMatching +DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0030521 semapv:UnspecifiedMatching +DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0153653 semapv:UnspecifiedMatching +DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0687150 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma skos:exactMatch OMIM:608266 semapv:UnspecifiedMatching DOID:1542 head and neck carcinoma oboInOwl:hasDbXref NCI:C6077 semapv:UnspecifiedMatching -DOID:1542 head and neck carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334927 semapv:UnspecifiedMatching +DOID:1542 head and neck carcinoma oboInOwl:hasDbXref UMLS:C1334927 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref GARD:9806 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref ICD10CM:L50.4 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref ICD9CM:708.4 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching -DOID:1554 vibratory urticaria oboInOwl:hasDbXref UMLS_CUI:C0157743 semapv:UnspecifiedMatching +DOID:1554 vibratory urticaria oboInOwl:hasDbXref UMLS:C0157743 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria skos:exactMatch OMIM:125630 semapv:UnspecifiedMatching DOID:1555 urticaria oboInOwl:hasDbXref ICD9CM:708.8 semapv:UnspecifiedMatching -DOID:1555 urticaria oboInOwl:hasDbXref UMLS_CUI:C0029839 semapv:UnspecifiedMatching +DOID:1555 urticaria oboInOwl:hasDbXref UMLS:C0029839 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref ICD10CM:T78.41 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref ICD9CM:995.21 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref MESH:D001183 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref NCI:C34400 semapv:UnspecifiedMatching -DOID:1556 arthus reaction oboInOwl:hasDbXref UMLS_CUI:C0003907 semapv:UnspecifiedMatching +DOID:1556 arthus reaction oboInOwl:hasDbXref UMLS:C0003907 semapv:UnspecifiedMatching DOID:1557 hypersensitivity reaction type III disease oboInOwl:hasDbXref MESH:D007105 semapv:UnspecifiedMatching -DOID:1557 hypersensitivity reaction type III disease oboInOwl:hasDbXref UMLS_CUI:C0020951 semapv:UnspecifiedMatching +DOID:1557 hypersensitivity reaction type III disease oboInOwl:hasDbXref UMLS:C0020951 semapv:UnspecifiedMatching DOID:1558 angioedema oboInOwl:hasDbXref ICD10CM:T78.3 semapv:UnspecifiedMatching DOID:1558 angioedema oboInOwl:hasDbXref MESH:D000799 semapv:UnspecifiedMatching DOID:1558 angioedema oboInOwl:hasDbXref NCI:C112175 semapv:UnspecifiedMatching -DOID:1558 angioedema oboInOwl:hasDbXref UMLS_CUI:C0002994 semapv:UnspecifiedMatching +DOID:1558 angioedema oboInOwl:hasDbXref UMLS:C0002994 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref ICD10CM:F09 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref MESH:D019965 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref NCI:C34870 semapv:UnspecifiedMatching -DOID:1561 cognitive disorder oboInOwl:hasDbXref UMLS_CUI:C0029227 semapv:UnspecifiedMatching +DOID:1561 cognitive disorder oboInOwl:hasDbXref UMLS:C0029227 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref GARD:1319 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref ICD10CM:B43.9 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref ICD9CM:117.2 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref MESH:D002862 semapv:UnspecifiedMatching -DOID:1562 chromoblastomycosis oboInOwl:hasDbXref UMLS_CUI:C0008582 semapv:UnspecifiedMatching +DOID:1562 chromoblastomycosis oboInOwl:hasDbXref UMLS:C0008582 semapv:UnspecifiedMatching DOID:1563 dermatomycosis oboInOwl:hasDbXref ICD9CM:111.9 semapv:UnspecifiedMatching DOID:1563 dermatomycosis oboInOwl:hasDbXref MESH:D003881 semapv:UnspecifiedMatching -DOID:1563 dermatomycosis oboInOwl:hasDbXref UMLS_CUI:C0011630 semapv:UnspecifiedMatching +DOID:1563 dermatomycosis oboInOwl:hasDbXref UMLS:C0011630 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref ICD10CM:B49 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref ICD9CM:110-118.99 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref MESH:D009181 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref NCI:C3245 semapv:UnspecifiedMatching -DOID:1564 fungal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0026946 semapv:UnspecifiedMatching +DOID:1564 fungal infectious disease oboInOwl:hasDbXref UMLS:C0026946 semapv:UnspecifiedMatching DOID:1569 mechanical ectropion oboInOwl:hasDbXref ICD9CM:374.12 semapv:UnspecifiedMatching -DOID:1569 mechanical ectropion oboInOwl:hasDbXref UMLS_CUI:C0155194 semapv:UnspecifiedMatching +DOID:1569 mechanical ectropion oboInOwl:hasDbXref UMLS:C0155194 semapv:UnspecifiedMatching DOID:1570 ectropion oboInOwl:hasDbXref ICD10CM:H02.1 semapv:UnspecifiedMatching DOID:1570 ectropion oboInOwl:hasDbXref ICD9CM:374.1 semapv:UnspecifiedMatching DOID:1570 ectropion oboInOwl:hasDbXref MESH:D004483 semapv:UnspecifiedMatching -DOID:1570 ectropion oboInOwl:hasDbXref UMLS_CUI:C0013592 semapv:UnspecifiedMatching +DOID:1570 ectropion oboInOwl:hasDbXref UMLS:C0013592 semapv:UnspecifiedMatching DOID:1571 spastic ectropion oboInOwl:hasDbXref ICD9CM:374.13 semapv:UnspecifiedMatching -DOID:1571 spastic ectropion oboInOwl:hasDbXref UMLS_CUI:C0155195 semapv:UnspecifiedMatching +DOID:1571 spastic ectropion oboInOwl:hasDbXref UMLS:C0155195 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.2 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref MESH:D006850 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref OMIM:236690 semapv:UnspecifiedMatching -DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0020258 semapv:UnspecifiedMatching +DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref UMLS:C0020258 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus skos:exactMatch OMIM:236690 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.0 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD9CM:331.3 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref NCI:C34501 semapv:UnspecifiedMatching -DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0009451 semapv:UnspecifiedMatching +DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref UMLS:C0009451 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref ICD10CM:F10.1 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref ICD9CM:305.0 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref MESH:D000437 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref NCI:C20701 semapv:UnspecifiedMatching -DOID:1574 alcohol use disorder oboInOwl:hasDbXref UMLS_CUI:C0085762 semapv:UnspecifiedMatching +DOID:1574 alcohol use disorder oboInOwl:hasDbXref UMLS:C0085762 semapv:UnspecifiedMatching DOID:1577 limited scleroderma oboInOwl:hasDbXref MESH:D045745 semapv:UnspecifiedMatching -DOID:1577 limited scleroderma oboInOwl:hasDbXref UMLS_CUI:C0748540 semapv:UnspecifiedMatching +DOID:1577 limited scleroderma oboInOwl:hasDbXref UMLS:C0748540 semapv:UnspecifiedMatching DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref ICD10CM:M34.81 semapv:UnspecifiedMatching DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref ICD9CM:517.2 semapv:UnspecifiedMatching -DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref UMLS_CUI:C0339904 semapv:UnspecifiedMatching +DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref UMLS:C0339904 semapv:UnspecifiedMatching DOID:1579 respiratory system disease oboInOwl:hasDbXref ICD10CM:J98 semapv:UnspecifiedMatching DOID:1579 respiratory system disease oboInOwl:hasDbXref ICD9CM:519 semapv:UnspecifiedMatching -DOID:1579 respiratory system disease oboInOwl:hasDbXref UMLS_CUI:C0029582 semapv:UnspecifiedMatching +DOID:1579 respiratory system disease oboInOwl:hasDbXref UMLS:C0029582 semapv:UnspecifiedMatching DOID:1580 diffuse scleroderma oboInOwl:hasDbXref MESH:D045743 semapv:UnspecifiedMatching DOID:1580 diffuse scleroderma oboInOwl:hasDbXref NCI:C116791 semapv:UnspecifiedMatching -DOID:1580 diffuse scleroderma oboInOwl:hasDbXref UMLS_CUI:C1258104 semapv:UnspecifiedMatching +DOID:1580 diffuse scleroderma oboInOwl:hasDbXref UMLS:C1258104 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref ICD10CM:A15.5 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref ICD9CM:012.3 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref MESH:D014387 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref NCI:C26895 semapv:UnspecifiedMatching -DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041315 semapv:UnspecifiedMatching +DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref UMLS:C0041315 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome oboInOwl:hasDbXref ICD9CM:517.3 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome oboInOwl:hasDbXref MESH:D056586 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome oboInOwl:hasDbXref NCI:C138179 semapv:UnspecifiedMatching -DOID:1584 acute chest syndrome oboInOwl:hasDbXref UMLS_CUI:C0742343 semapv:UnspecifiedMatching +DOID:1584 acute chest syndrome oboInOwl:hasDbXref UMLS:C0742343 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome skos:exactMatch MESH:D056586 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref GARD:5699 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD10CM:I00 semapv:UnspecifiedMatching @@ -24361,11 +24669,11 @@ DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD9CM:390 semapv:UnspecifiedMatchi DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD9CM:390-392.99 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref MESH:D012213 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref NCI:C34984 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS_CUI:C0035436 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS_CUI:C0264743 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS:C0035436 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS:C0264743 semapv:UnspecifiedMatching DOID:1586 rheumatic fever skos:exactMatch MESH:D012213 semapv:UnspecifiedMatching DOID:1587 thrombocytopenia due to platelet alloimmunization oboInOwl:hasDbXref NCI:C3991 semapv:UnspecifiedMatching -DOID:1587 thrombocytopenia due to platelet alloimmunization oboInOwl:hasDbXref UMLS_CUI:C0272286 semapv:UnspecifiedMatching +DOID:1587 thrombocytopenia due to platelet alloimmunization oboInOwl:hasDbXref UMLS:C0272286 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.6 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.5 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref MESH:D013921 semapv:UnspecifiedMatching @@ -24375,26 +24683,26 @@ DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatc DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ORDO:852 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0040034 semapv:UnspecifiedMatching +DOID:1588 thrombocytopenia oboInOwl:hasDbXref UMLS:C0040034 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref ICD10CM:I15.0 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref MESH:D006978 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref NCI:C85044 semapv:UnspecifiedMatching -DOID:1591 renovascular hypertension oboInOwl:hasDbXref UMLS_CUI:C0020545 semapv:UnspecifiedMatching +DOID:1591 renovascular hypertension oboInOwl:hasDbXref UMLS:C0020545 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref NCI:C34532 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref NCI:C35094 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref OMIM:608516 semapv:UnspecifiedMatching -DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS_CUI:C0011573 semapv:UnspecifiedMatching -DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS_CUI:C0041696 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS:C0011573 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS:C0041696 semapv:UnspecifiedMatching DOID:1595 melancholic depression skos:exactMatch OMIM:608516 semapv:UnspecifiedMatching DOID:1596 depressive disorder oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching DOID:1596 depressive disorder oboInOwl:hasDbXref MESH:D003863 semapv:UnspecifiedMatching DOID:1596 depressive disorder oboInOwl:hasDbXref NCI:C2982 semapv:UnspecifiedMatching -DOID:1596 depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0011570 semapv:UnspecifiedMatching -DOID:1596 depressive disorder skos:closeMatch UMLS_CUI:C0011570 semapv:UnspecifiedMatching +DOID:1596 depressive disorder oboInOwl:hasDbXref UMLS:C0011570 semapv:UnspecifiedMatching +DOID:1596 depressive disorder skos:closeMatch UMLS:C0011570 semapv:UnspecifiedMatching DOID:1596 depressive disorder skos:exactMatch MESH:D003866 semapv:UnspecifiedMatching DOID:1596 depressive disorder skos:exactMatch NCI:C2982 semapv:UnspecifiedMatching -DOID:1596 depressive disorder skos:exactMatch SNOMEDCT_US_2023_02_28:35489007 semapv:UnspecifiedMatching +DOID:1596 depressive disorder skos:exactMatch SNOMEDCT_US_2020_03_01:35489007 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD10CM:I88.1 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD10CM:L04 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD9CM:289.1 semapv:UnspecifiedMatching @@ -24403,87 +24711,87 @@ DOID:1602 lymphadenitis oboInOwl:hasDbXref MESH:D008199 semapv:UnspecifiedMatchi DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26821 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26966 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26978 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0024205 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0154304 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0157705 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS:C0024205 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS:C0154304 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS:C0157705 semapv:UnspecifiedMatching DOID:1607 hypoglycemic coma oboInOwl:hasDbXref ICD10CM:E15 semapv:UnspecifiedMatching DOID:1607 hypoglycemic coma oboInOwl:hasDbXref ICD9CM:251.0 semapv:UnspecifiedMatching DOID:1607 hypoglycemic coma oboInOwl:hasDbXref NCI:C181765 semapv:UnspecifiedMatching -DOID:1607 hypoglycemic coma oboInOwl:hasDbXref UMLS_CUI:C0020617 semapv:UnspecifiedMatching +DOID:1607 hypoglycemic coma oboInOwl:hasDbXref UMLS:C0020617 semapv:UnspecifiedMatching DOID:161 keratosis oboInOwl:hasDbXref MESH:D007642 semapv:UnspecifiedMatching DOID:161 keratosis oboInOwl:hasDbXref NCI:C34747 semapv:UnspecifiedMatching -DOID:161 keratosis oboInOwl:hasDbXref UMLS_CUI:C0022593 semapv:UnspecifiedMatching +DOID:161 keratosis oboInOwl:hasDbXref UMLS:C0022593 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref ICD10CM:C50 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref MESH:D001943 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref NCI:C9335 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching -DOID:1612 breast cancer oboInOwl:hasDbXref UMLS_CUI:C0006142 semapv:UnspecifiedMatching +DOID:1612 breast cancer oboInOwl:hasDbXref UMLS:C0006142 semapv:UnspecifiedMatching DOID:1612 breast cancer skos:exactMatch OMIM:114480 semapv:UnspecifiedMatching DOID:1614 male breast cancer oboInOwl:hasDbXref GARD:9312 semapv:UnspecifiedMatching DOID:1614 male breast cancer oboInOwl:hasDbXref MESH:D018567 semapv:UnspecifiedMatching -DOID:1614 male breast cancer oboInOwl:hasDbXref UMLS_CUI:C0242788 semapv:UnspecifiedMatching +DOID:1614 male breast cancer oboInOwl:hasDbXref UMLS:C0242788 semapv:UnspecifiedMatching DOID:1616 benign eccrine breast spiradenoma oboInOwl:hasDbXref NCI:C5193 semapv:UnspecifiedMatching -DOID:1616 benign eccrine breast spiradenoma oboInOwl:hasDbXref UMLS_CUI:C1332492 semapv:UnspecifiedMatching +DOID:1616 benign eccrine breast spiradenoma oboInOwl:hasDbXref UMLS:C1332492 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref ICD10CM:D24 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref MESH:D018226 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C3744 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C4276 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C5194 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0178421 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0206650 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0346158 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C1333137 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS:C0178421 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS:C0206650 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS:C0346158 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS:C1333137 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref ICD10CM:C80.1 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref ICD9CM:199 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref ICDO:8000/3 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref MESH:D009369 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref NCI:C9305 semapv:UnspecifiedMatching -DOID:162 cancer oboInOwl:hasDbXref UMLS_CUI:C0006826 semapv:UnspecifiedMatching +DOID:162 cancer oboInOwl:hasDbXref UMLS:C0006826 semapv:UnspecifiedMatching DOID:1623 breast leiomyoma oboInOwl:hasDbXref NCI:C40399 semapv:UnspecifiedMatching -DOID:1623 breast leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1511317 semapv:UnspecifiedMatching +DOID:1623 breast leiomyoma oboInOwl:hasDbXref UMLS:C1511317 semapv:UnspecifiedMatching DOID:1625 breast adenoma oboInOwl:hasDbXref NCI:C40382 semapv:UnspecifiedMatching -DOID:1625 breast adenoma oboInOwl:hasDbXref UMLS_CUI:C1328385 semapv:UnspecifiedMatching +DOID:1625 breast adenoma oboInOwl:hasDbXref UMLS:C1328385 semapv:UnspecifiedMatching DOID:1626 breast duct papilloma oboInOwl:hasDbXref NCI:C3863 semapv:UnspecifiedMatching -DOID:1626 breast duct papilloma oboInOwl:hasDbXref UMLS_CUI:C0238034 semapv:UnspecifiedMatching +DOID:1626 breast duct papilloma oboInOwl:hasDbXref UMLS:C0238034 semapv:UnspecifiedMatching DOID:1627 intraductal papilloma oboInOwl:hasDbXref ICDO:8503/0 semapv:UnspecifiedMatching DOID:1627 intraductal papilloma oboInOwl:hasDbXref MESH:D018300 semapv:UnspecifiedMatching DOID:1627 intraductal papilloma oboInOwl:hasDbXref NCI:C3785 semapv:UnspecifiedMatching -DOID:1627 intraductal papilloma oboInOwl:hasDbXref UMLS_CUI:C0206713 semapv:UnspecifiedMatching +DOID:1627 intraductal papilloma oboInOwl:hasDbXref UMLS:C0206713 semapv:UnspecifiedMatching DOID:1628 intraductal papillary breast neoplasm oboInOwl:hasDbXref NCI:C36090 semapv:UnspecifiedMatching -DOID:1628 intraductal papillary breast neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334252 semapv:UnspecifiedMatching +DOID:1628 intraductal papillary breast neoplasm oboInOwl:hasDbXref UMLS:C1334252 semapv:UnspecifiedMatching DOID:1629 breast myofibroblastoma oboInOwl:hasDbXref NCI:C40397 semapv:UnspecifiedMatching -DOID:1629 breast myofibroblastoma oboInOwl:hasDbXref UMLS_CUI:C1511320 semapv:UnspecifiedMatching +DOID:1629 breast myofibroblastoma oboInOwl:hasDbXref UMLS:C1511320 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref ICD10CM:D48.6 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref NCI:C2977 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref NCI:C4274 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref NCI:C5196 semapv:UnspecifiedMatching -DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0010701 semapv:UnspecifiedMatching -DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0334501 semapv:UnspecifiedMatching -DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1332533 semapv:UnspecifiedMatching +DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS:C0010701 semapv:UnspecifiedMatching +DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS:C0334501 semapv:UnspecifiedMatching +DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS:C1332533 semapv:UnspecifiedMatching DOID:1637 breast angiomatosis oboInOwl:hasDbXref NCI:C40381 semapv:UnspecifiedMatching -DOID:1637 breast angiomatosis oboInOwl:hasDbXref UMLS_CUI:C1511284 semapv:UnspecifiedMatching +DOID:1637 breast angiomatosis oboInOwl:hasDbXref UMLS:C1511284 semapv:UnspecifiedMatching DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref ICD9CM:013.2 semapv:UnspecifiedMatching DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref MESH:D016862 semapv:UnspecifiedMatching -DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0085388 semapv:UnspecifiedMatching +DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref UMLS:C0085388 semapv:UnspecifiedMatching DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref ICD10CM:A18.0 semapv:UnspecifiedMatching DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref ICD9CM:015.9 semapv:UnspecifiedMatching DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref MESH:D014394 semapv:UnspecifiedMatching -DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041324 semapv:UnspecifiedMatching +DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref UMLS:C0041324 semapv:UnspecifiedMatching DOID:1641 benign breast adenomyoepithelioma oboInOwl:hasDbXref NCI:C5144 semapv:UnspecifiedMatching -DOID:1641 benign breast adenomyoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1332477 semapv:UnspecifiedMatching +DOID:1641 benign breast adenomyoepithelioma oboInOwl:hasDbXref UMLS:C1332477 semapv:UnspecifiedMatching DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref NCI:C5143 semapv:UnspecifiedMatching DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref NCI:C6899 semapv:UnspecifiedMatching -DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1334564 semapv:UnspecifiedMatching -DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1510795 semapv:UnspecifiedMatching +DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref UMLS:C1334564 semapv:UnspecifiedMatching +DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref UMLS:C1510795 semapv:UnspecifiedMatching DOID:1647 female breast upper-inner quadrant cancer oboInOwl:hasDbXref ICD9CM:174.2 semapv:UnspecifiedMatching -DOID:1647 female breast upper-inner quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153550 semapv:UnspecifiedMatching +DOID:1647 female breast upper-inner quadrant cancer oboInOwl:hasDbXref UMLS:C0153550 semapv:UnspecifiedMatching DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref ICD10CM:C50.31 semapv:UnspecifiedMatching DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref ICD9CM:174.3 semapv:UnspecifiedMatching -DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153551 semapv:UnspecifiedMatching +DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref UMLS:C0153551 semapv:UnspecifiedMatching DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref ICD10CM:C50.61 semapv:UnspecifiedMatching DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref ICD9CM:174.6 semapv:UnspecifiedMatching -DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref UMLS_CUI:C0153554 semapv:UnspecifiedMatching +DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref UMLS:C0153554 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref GARD:7853 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ICD10CM:Q21.0 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ICD9CM:745.4 semapv:UnspecifiedMatching @@ -24493,107 +24801,107 @@ DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614429 semapv:Unspec DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614431 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614432 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ORDO:1480 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref UMLS_CUI:C0018818 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref UMLS:C0018818 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref ICD10CM:C71.0 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref MESH:D015173 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref NCI:C3397 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref NCI:C4964 semapv:UnspecifiedMatching -DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0038874 semapv:UnspecifiedMatching -DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0751589 semapv:UnspecifiedMatching +DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS:C0038874 semapv:UnspecifiedMatching +DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS:C0751589 semapv:UnspecifiedMatching DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref ICDO:9363/0 semapv:UnspecifiedMatching DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref MESH:D017600 semapv:UnspecifiedMatching DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref NCI:C3717 semapv:UnspecifiedMatching -DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C0206094 semapv:UnspecifiedMatching +DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0206094 semapv:UnspecifiedMatching DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref GARD:12017 semapv:UnspecifiedMatching DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref NCI:C4659 semapv:UnspecifiedMatching DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref NCI:C6767 semapv:UnspecifiedMatching -DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0349621 semapv:UnspecifiedMatching -DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334612 semapv:UnspecifiedMatching +DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref UMLS:C0349621 semapv:UnspecifiedMatching +DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref UMLS:C1334612 semapv:UnspecifiedMatching DOID:1664 pineoblastoma oboInOwl:hasDbXref GARD:9369 semapv:UnspecifiedMatching DOID:1664 pineoblastoma oboInOwl:hasDbXref ICDO:9362/3 semapv:UnspecifiedMatching DOID:1664 pineoblastoma oboInOwl:hasDbXref MESH:D010871 semapv:UnspecifiedMatching DOID:1664 pineoblastoma oboInOwl:hasDbXref NCI:C9344 semapv:UnspecifiedMatching -DOID:1664 pineoblastoma oboInOwl:hasDbXref UMLS_CUI:C0205898 semapv:UnspecifiedMatching +DOID:1664 pineoblastoma oboInOwl:hasDbXref UMLS:C0205898 semapv:UnspecifiedMatching DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref ICD9CM:711.2 semapv:UnspecifiedMatching DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref NCI:C35225 semapv:UnspecifiedMatching -DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref UMLS_CUI:C0157770 semapv:UnspecifiedMatching +DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref UMLS:C0157770 semapv:UnspecifiedMatching DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref ICD10CM:J93.0 semapv:UnspecifiedMatching DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref ICD9CM:512.0 semapv:UnspecifiedMatching -DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref UMLS_CUI:C0155907 semapv:UnspecifiedMatching +DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref UMLS:C0155907 semapv:UnspecifiedMatching DOID:1673 pneumothorax oboInOwl:hasDbXref ICD10CM:J93.1 semapv:UnspecifiedMatching -DOID:1673 pneumothorax oboInOwl:hasDbXref UMLS_CUI:C0029850 semapv:UnspecifiedMatching +DOID:1673 pneumothorax oboInOwl:hasDbXref UMLS:C0029850 semapv:UnspecifiedMatching DOID:1673 pneumothorax skos:exactMatch MESH:D011030 semapv:UnspecifiedMatching DOID:1677 low implantation of placenta oboInOwl:hasDbXref ICD9CM:641.0 semapv:UnspecifiedMatching -DOID:1677 low implantation of placenta oboInOwl:hasDbXref UMLS_CUI:C0156617 semapv:UnspecifiedMatching +DOID:1677 low implantation of placenta oboInOwl:hasDbXref UMLS:C0156617 semapv:UnspecifiedMatching DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref ICD10CM:N30.1 semapv:UnspecifiedMatching DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref ICD9CM:595.1 semapv:UnspecifiedMatching DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching -DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref UMLS_CUI:C0600040 semapv:UnspecifiedMatching +DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref UMLS:C0600040 semapv:UnspecifiedMatching DOID:1679 cystitis oboInOwl:hasDbXref ICD10CM:N30 semapv:UnspecifiedMatching DOID:1679 cystitis oboInOwl:hasDbXref ICD9CM:595 semapv:UnspecifiedMatching DOID:1679 cystitis oboInOwl:hasDbXref MESH:D003556 semapv:UnspecifiedMatching DOID:1679 cystitis oboInOwl:hasDbXref NCI:C26738 semapv:UnspecifiedMatching -DOID:1679 cystitis oboInOwl:hasDbXref UMLS_CUI:C0010692 semapv:UnspecifiedMatching +DOID:1679 cystitis oboInOwl:hasDbXref UMLS:C0010692 semapv:UnspecifiedMatching DOID:1680 chronic cystitis oboInOwl:hasDbXref ICD10CM:N30.2 semapv:UnspecifiedMatching DOID:1680 chronic cystitis oboInOwl:hasDbXref ICD9CM:595.2 semapv:UnspecifiedMatching -DOID:1680 chronic cystitis oboInOwl:hasDbXref UMLS_CUI:C0156268 semapv:UnspecifiedMatching +DOID:1680 chronic cystitis oboInOwl:hasDbXref UMLS:C0156268 semapv:UnspecifiedMatching DOID:1681 heart septal defect oboInOwl:hasDbXref ICD10CM:Q21.9 semapv:UnspecifiedMatching DOID:1681 heart septal defect oboInOwl:hasDbXref MESH:D006343 semapv:UnspecifiedMatching DOID:1681 heart septal defect oboInOwl:hasDbXref NCI:C84482 semapv:UnspecifiedMatching -DOID:1681 heart septal defect oboInOwl:hasDbXref UMLS_CUI:C0018816 semapv:UnspecifiedMatching +DOID:1681 heart septal defect oboInOwl:hasDbXref UMLS:C0018816 semapv:UnspecifiedMatching DOID:1682 congenital heart disease oboInOwl:hasDbXref ICD10CM:Q24.9 semapv:UnspecifiedMatching DOID:1682 congenital heart disease oboInOwl:hasDbXref ICD9CM:746.9 semapv:UnspecifiedMatching DOID:1682 congenital heart disease oboInOwl:hasDbXref MESH:D006330 semapv:UnspecifiedMatching DOID:1682 congenital heart disease oboInOwl:hasDbXref NCI:C34666 semapv:UnspecifiedMatching -DOID:1682 congenital heart disease oboInOwl:hasDbXref UMLS_CUI:C0018798 semapv:UnspecifiedMatching +DOID:1682 congenital heart disease oboInOwl:hasDbXref UMLS:C0018798 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref EFO:0000516 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref ICD10CM:H40 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref ICD9CM:365 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref MESH:D005901 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref NCI:C26782 semapv:UnspecifiedMatching -DOID:1686 glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017601 semapv:UnspecifiedMatching +DOID:1686 glaucoma oboInOwl:hasDbXref UMLS:C0017601 semapv:UnspecifiedMatching DOID:1687 neovascular glaucoma oboInOwl:hasDbXref MESH:D015355 semapv:UnspecifiedMatching -DOID:1687 neovascular glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017609 semapv:UnspecifiedMatching +DOID:1687 neovascular glaucoma oboInOwl:hasDbXref UMLS:C0017609 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref ICD10CM:D3A.8 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref ICD9CM:209-209.99 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref ICDO:8240/3 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref MESH:D018358 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref NCI:C3809 semapv:UnspecifiedMatching -DOID:169 neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C0206754 semapv:UnspecifiedMatching +DOID:169 neuroendocrine tumor oboInOwl:hasDbXref UMLS:C0206754 semapv:UnspecifiedMatching DOID:1697 ichthyosis oboInOwl:hasDbXref MESH:D007057 semapv:UnspecifiedMatching DOID:1697 ichthyosis oboInOwl:hasDbXref ORDO:79354 semapv:UnspecifiedMatching DOID:17 musculoskeletal system disease oboInOwl:hasDbXref MESH:D009140 semapv:UnspecifiedMatching DOID:17 musculoskeletal system disease oboInOwl:hasDbXref NCI:C107377 semapv:UnspecifiedMatching -DOID:17 musculoskeletal system disease oboInOwl:hasDbXref UMLS_CUI:C0026857 semapv:UnspecifiedMatching +DOID:17 musculoskeletal system disease oboInOwl:hasDbXref UMLS:C0026857 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref ICD10CM:C75.9 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref ICD9CM:194.9 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref MESH:D004701 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref NCI:C3010 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref NCI:C3575 semapv:UnspecifiedMatching -DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS_CUI:C0014132 semapv:UnspecifiedMatching -DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153658 semapv:UnspecifiedMatching +DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS:C0014132 semapv:UnspecifiedMatching +DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS:C0153658 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref GARD:7904 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref ICD10CM:Q80.1 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref NCI:C84779 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref UMLS_CUI:C0079588 semapv:UnspecifiedMatching +DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref UMLS:C0079588 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis skos:exactMatch OMIM:308100 semapv:UnspecifiedMatching DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref MESH:D043202 semapv:UnspecifiedMatching -DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C1257809 semapv:UnspecifiedMatching +DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref UMLS:C1257809 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref GARD:6752 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref ICD10CM:Q80.0 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref MESH:D016112 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref NCI:C84778 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref OMIM:146700 semapv:UnspecifiedMatching -DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref UMLS_CUI:C0079584 semapv:UnspecifiedMatching +DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref UMLS:C0079584 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris skos:exactMatch OMIM:146700 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref GARD:7578 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref ICD10CM:C91.1 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref NCI:C35424 semapv:UnspecifiedMatching -DOID:1703 Richter's syndrome oboInOwl:hasDbXref UMLS_CUI:C0349631 semapv:UnspecifiedMatching +DOID:1703 Richter's syndrome oboInOwl:hasDbXref UMLS:C0349631 semapv:UnspecifiedMatching DOID:171 neuroectodermal tumor oboInOwl:hasDbXref MESH:D017599 semapv:UnspecifiedMatching -DOID:171 neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C0206093 semapv:UnspecifiedMatching +DOID:171 neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0206093 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref GARD:5830 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD10CM:I06.0 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD10CM:Q23.0 semapv:UnspecifiedMatching @@ -24601,139 +24909,139 @@ DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD9CM:395.0 semapv:Unspecifi DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD9CM:746.3 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref MESH:D001024 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref NCI:C50462 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0003507 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0152417 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0155567 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS:C0003507 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS:C0152417 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS:C0155567 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis skos:exactMatch MESH:D001024 semapv:UnspecifiedMatching DOID:1713 benign shuddering attacks oboInOwl:hasDbXref ICD10CM:G25.83 semapv:UnspecifiedMatching DOID:1713 benign shuddering attacks oboInOwl:hasDbXref ICD9CM:333.93 semapv:UnspecifiedMatching -DOID:1713 benign shuddering attacks oboInOwl:hasDbXref UMLS_CUI:C0375200 semapv:UnspecifiedMatching +DOID:1713 benign shuddering attacks oboInOwl:hasDbXref UMLS:C0375200 semapv:UnspecifiedMatching DOID:172 clear cell acanthoma oboInOwl:hasDbXref ICDO:8084/0 semapv:UnspecifiedMatching DOID:172 clear cell acanthoma oboInOwl:hasDbXref MESH:D049309 semapv:UnspecifiedMatching DOID:172 clear cell acanthoma oboInOwl:hasDbXref NCI:C97041 semapv:UnspecifiedMatching -DOID:172 clear cell acanthoma oboInOwl:hasDbXref UMLS_CUI:C0333992 semapv:UnspecifiedMatching +DOID:172 clear cell acanthoma oboInOwl:hasDbXref UMLS:C0333992 semapv:UnspecifiedMatching DOID:1724 duodenal ulcer oboInOwl:hasDbXref ICD10CM:K26 semapv:UnspecifiedMatching DOID:1724 duodenal ulcer oboInOwl:hasDbXref ICD9CM:532 semapv:UnspecifiedMatching DOID:1724 duodenal ulcer oboInOwl:hasDbXref MESH:D004381 semapv:UnspecifiedMatching DOID:1724 duodenal ulcer oboInOwl:hasDbXref NCI:C26755 semapv:UnspecifiedMatching -DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS_CUI:C0010474 semapv:UnspecifiedMatching -DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS_CUI:C0013295 semapv:UnspecifiedMatching +DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS:C0010474 semapv:UnspecifiedMatching +DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS:C0013295 semapv:UnspecifiedMatching DOID:1725 peritoneum cancer oboInOwl:hasDbXref ICD10CM:C48.1 semapv:UnspecifiedMatching DOID:1725 peritoneum cancer oboInOwl:hasDbXref ICD9CM:158.8 semapv:UnspecifiedMatching -DOID:1725 peritoneum cancer oboInOwl:hasDbXref UMLS_CUI:C0153466 semapv:UnspecifiedMatching +DOID:1725 peritoneum cancer oboInOwl:hasDbXref UMLS:C0153466 semapv:UnspecifiedMatching DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref ICD10CM:H34.82 semapv:UnspecifiedMatching DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref NCI:C35341 semapv:UnspecifiedMatching -DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0271080 semapv:UnspecifiedMatching +DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref UMLS:C0271080 semapv:UnspecifiedMatching DOID:1727 retinal vein occlusion oboInOwl:hasDbXref MESH:D012170 semapv:UnspecifiedMatching DOID:1727 retinal vein occlusion oboInOwl:hasDbXref NCI:C34981 semapv:UnspecifiedMatching -DOID:1727 retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0035328 semapv:UnspecifiedMatching +DOID:1727 retinal vein occlusion oboInOwl:hasDbXref UMLS:C0035328 semapv:UnspecifiedMatching DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref ICD10CM:H34 semapv:UnspecifiedMatching DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref ICD9CM:362.3 semapv:UnspecifiedMatching DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref NCI:C34980 semapv:UnspecifiedMatching -DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref UMLS_CUI:C0035326 semapv:UnspecifiedMatching +DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref UMLS:C0035326 semapv:UnspecifiedMatching DOID:173 eccrine sweat gland neoplasm oboInOwl:hasDbXref NCI:C6796 semapv:UnspecifiedMatching -DOID:173 eccrine sweat gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333371 semapv:UnspecifiedMatching +DOID:173 eccrine sweat gland neoplasm oboInOwl:hasDbXref UMLS:C1333371 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref ICD10CM:B39 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref ICD9CM:115 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref MESH:C538362 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref NCI:C34977 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref NCI:C77201 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0019655 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0035288 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref UMLS:C0019655 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref UMLS:C0035288 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref GARD:6219 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref ICD10CM:A07.2 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref ICD9CM:007.4 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref MESH:D003457 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref NCI:C128408 semapv:UnspecifiedMatching -DOID:1733 cryptosporidiosis oboInOwl:hasDbXref UMLS_CUI:C0010418 semapv:UnspecifiedMatching +DOID:1733 cryptosporidiosis oboInOwl:hasDbXref UMLS:C0010418 semapv:UnspecifiedMatching DOID:1737 duodenal benign neoplasm oboInOwl:hasDbXref MESH:D004379 semapv:UnspecifiedMatching DOID:1737 duodenal benign neoplasm oboInOwl:hasDbXref NCI:C2995 semapv:UnspecifiedMatching -DOID:1737 duodenal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0013291 semapv:UnspecifiedMatching +DOID:1737 duodenal benign neoplasm oboInOwl:hasDbXref UMLS:C0013291 semapv:UnspecifiedMatching DOID:1738 small intestine leiomyoma oboInOwl:hasDbXref NCI:C7725 semapv:UnspecifiedMatching -DOID:1738 small intestine leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0238197 semapv:UnspecifiedMatching +DOID:1738 small intestine leiomyoma oboInOwl:hasDbXref UMLS:C0238197 semapv:UnspecifiedMatching DOID:174 acanthoma oboInOwl:hasDbXref GARD:8604 semapv:UnspecifiedMatching DOID:174 acanthoma oboInOwl:hasDbXref MESH:D049309 semapv:UnspecifiedMatching DOID:174 acanthoma oboInOwl:hasDbXref NCI:C7419 semapv:UnspecifiedMatching -DOID:174 acanthoma oboInOwl:hasDbXref UMLS_CUI:C0846967 semapv:UnspecifiedMatching +DOID:174 acanthoma oboInOwl:hasDbXref UMLS:C0846967 semapv:UnspecifiedMatching DOID:174 acanthoma skos:exactMatch MESH:D049309 semapv:UnspecifiedMatching DOID:1742 drug psychosis oboInOwl:hasDbXref ICD9CM:292.1 semapv:UnspecifiedMatching DOID:1742 drug psychosis oboInOwl:hasDbXref MESH:D011605 semapv:UnspecifiedMatching -DOID:1742 drug psychosis oboInOwl:hasDbXref UMLS_CUI:C0033937 semapv:UnspecifiedMatching +DOID:1742 drug psychosis oboInOwl:hasDbXref UMLS:C0033937 semapv:UnspecifiedMatching DOID:1748 conjunctival squamous cell carcinoma oboInOwl:hasDbXref NCI:C4549 semapv:UnspecifiedMatching -DOID:1748 conjunctival squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346359 semapv:UnspecifiedMatching +DOID:1748 conjunctival squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0346359 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref EFO:0000707 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref GARD:1091 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref ICDO:8070/3 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref MESH:D002294 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref MESH:D018307 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref NCI:C2929 semapv:UnspecifiedMatching -DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007137 semapv:UnspecifiedMatching -DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0751688 semapv:UnspecifiedMatching +DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0007137 semapv:UnspecifiedMatching +DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0751688 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref MESH:D019043 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5348 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5380 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5383 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5388 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C7390 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C0282607 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C0346845 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1290407 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1334616 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1334617 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1334630 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1335753 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C0282607 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C0346845 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C1290407 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C1334616 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C1334617 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C1334630 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS:C1335753 semapv:UnspecifiedMatching DOID:1751 malignant conjunctival melanoma oboInOwl:hasDbXref NCI:C4550 semapv:UnspecifiedMatching -DOID:1751 malignant conjunctival melanoma oboInOwl:hasDbXref UMLS_CUI:C0346360 semapv:UnspecifiedMatching +DOID:1751 malignant conjunctival melanoma oboInOwl:hasDbXref UMLS:C0346360 semapv:UnspecifiedMatching DOID:1752 ocular melanoma oboInOwl:hasDbXref GARD:7236 semapv:UnspecifiedMatching DOID:1752 ocular melanoma oboInOwl:hasDbXref GARD:8621 semapv:UnspecifiedMatching DOID:1754 mitral valve stenosis oboInOwl:hasDbXref MESH:D008946 semapv:UnspecifiedMatching DOID:1754 mitral valve stenosis oboInOwl:hasDbXref NCI:C50654 semapv:UnspecifiedMatching -DOID:1754 mitral valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0026269 semapv:UnspecifiedMatching +DOID:1754 mitral valve stenosis oboInOwl:hasDbXref UMLS:C0026269 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref ICD10CM:G51 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref ICD9CM:351 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref MESH:D005155 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref NCI:C27594 semapv:UnspecifiedMatching -DOID:1756 facial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0015464 semapv:UnspecifiedMatching +DOID:1756 facial nerve disease oboInOwl:hasDbXref UMLS:C0015464 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref MESH:D005150 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref NCI:C84703 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref OMIM:141300 semapv:UnspecifiedMatching -DOID:1757 facial hemiatrophy oboInOwl:hasDbXref UMLS_CUI:C0015458 semapv:UnspecifiedMatching +DOID:1757 facial hemiatrophy oboInOwl:hasDbXref UMLS:C0015458 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy skos:exactMatch OMIM:141300 semapv:UnspecifiedMatching DOID:1759 American histoplasmosis oboInOwl:hasDbXref ICD10CM:B39.4 semapv:UnspecifiedMatching DOID:1759 American histoplasmosis oboInOwl:hasDbXref ICD9CM:115.0 semapv:UnspecifiedMatching DOID:1759 American histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching -DOID:1759 American histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0153261 semapv:UnspecifiedMatching +DOID:1759 American histoplasmosis oboInOwl:hasDbXref UMLS:C0153261 semapv:UnspecifiedMatching DOID:176 cardiovascular cancer oboInOwl:hasDbXref NCI:C4784 semapv:UnspecifiedMatching -DOID:176 cardiovascular cancer oboInOwl:hasDbXref UMLS_CUI:C0497243 semapv:UnspecifiedMatching +DOID:176 cardiovascular cancer oboInOwl:hasDbXref UMLS:C0497243 semapv:UnspecifiedMatching DOID:1760 facial nerve neoplasm oboInOwl:hasDbXref NCI:C5827 semapv:UnspecifiedMatching -DOID:1760 facial nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263899 semapv:UnspecifiedMatching +DOID:1760 facial nerve neoplasm oboInOwl:hasDbXref UMLS:C1263899 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref GARD:7010 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref ICD10CM:G51.2 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MESH:D008556 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref NCI:C84886 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref OMIM:155900 semapv:UnspecifiedMatching -DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref UMLS_CUI:C0025235 semapv:UnspecifiedMatching +DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref UMLS:C0025235 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome skos:exactMatch OMIM:155900 semapv:UnspecifiedMatching DOID:1762 cheilitis oboInOwl:hasDbXref ICD10CM:K13.0 semapv:UnspecifiedMatching DOID:1762 cheilitis oboInOwl:hasDbXref MESH:D002613 semapv:UnspecifiedMatching DOID:1762 cheilitis oboInOwl:hasDbXref NCI:C79545 semapv:UnspecifiedMatching -DOID:1762 cheilitis oboInOwl:hasDbXref UMLS_CUI:C0007971 semapv:UnspecifiedMatching +DOID:1762 cheilitis oboInOwl:hasDbXref UMLS:C0007971 semapv:UnspecifiedMatching DOID:1762 cheilitis skos:exactMatch MESH:D002613 semapv:UnspecifiedMatching DOID:1766 factitious disorder oboInOwl:hasDbXref ICD9CM:300.16 semapv:UnspecifiedMatching -DOID:1766 factitious disorder oboInOwl:hasDbXref UMLS_CUI:C0015481 semapv:UnspecifiedMatching +DOID:1766 factitious disorder oboInOwl:hasDbXref UMLS:C0015481 semapv:UnspecifiedMatching DOID:1768 conversion disorder oboInOwl:hasDbXref GARD:6191 semapv:UnspecifiedMatching DOID:1768 conversion disorder oboInOwl:hasDbXref ICD10CM:F44 semapv:UnspecifiedMatching DOID:1768 conversion disorder oboInOwl:hasDbXref ICD9CM:300.11 semapv:UnspecifiedMatching DOID:1768 conversion disorder oboInOwl:hasDbXref MESH:D003291 semapv:UnspecifiedMatching -DOID:1768 conversion disorder oboInOwl:hasDbXref UMLS_CUI:C0009946 semapv:UnspecifiedMatching +DOID:1768 conversion disorder oboInOwl:hasDbXref UMLS:C0009946 semapv:UnspecifiedMatching DOID:1770 toxic megacolon oboInOwl:hasDbXref ICD10CM:K59.31 semapv:UnspecifiedMatching DOID:1770 toxic megacolon oboInOwl:hasDbXref MESH:D008532 semapv:UnspecifiedMatching -DOID:1770 toxic megacolon oboInOwl:hasDbXref UMLS_CUI:C0025162 semapv:UnspecifiedMatching +DOID:1770 toxic megacolon oboInOwl:hasDbXref UMLS:C0025162 semapv:UnspecifiedMatching DOID:1776 labyrinthine unilateral reactive loss oboInOwl:hasDbXref ICD9CM:386.55 semapv:UnspecifiedMatching -DOID:1776 labyrinthine unilateral reactive loss oboInOwl:hasDbXref UMLS_CUI:C0155519 semapv:UnspecifiedMatching +DOID:1776 labyrinthine unilateral reactive loss oboInOwl:hasDbXref UMLS:C0155519 semapv:UnspecifiedMatching DOID:1777 unilateral hyperactive labyrinth oboInOwl:hasDbXref ICD9CM:386.51 semapv:UnspecifiedMatching -DOID:1777 unilateral hyperactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155515 semapv:UnspecifiedMatching +DOID:1777 unilateral hyperactive labyrinth oboInOwl:hasDbXref UMLS:C0155515 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref ICD10CM:I72.9 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref ICD9CM:442.9 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref MESH:D000783 semapv:UnspecifiedMatching @@ -24742,55 +25050,55 @@ DOID:178 vascular disease oboInOwl:hasDbXref MESH:D020758 semapv:UnspecifiedMatc DOID:178 vascular disease oboInOwl:hasDbXref MESH:D020760 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref NCI:C26693 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref NCI:C35117 semapv:UnspecifiedMatching -DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0002940 semapv:UnspecifiedMatching -DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042373 semapv:UnspecifiedMatching -DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0752127 semapv:UnspecifiedMatching -DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0752130 semapv:UnspecifiedMatching +DOID:178 vascular disease oboInOwl:hasDbXref UMLS:C0002940 semapv:UnspecifiedMatching +DOID:178 vascular disease oboInOwl:hasDbXref UMLS:C0042373 semapv:UnspecifiedMatching +DOID:178 vascular disease oboInOwl:hasDbXref UMLS:C0752127 semapv:UnspecifiedMatching +DOID:178 vascular disease oboInOwl:hasDbXref UMLS:C0752130 semapv:UnspecifiedMatching DOID:1781 thyroid cancer oboInOwl:hasDbXref ICD10CM:C73 semapv:UnspecifiedMatching DOID:1781 thyroid cancer oboInOwl:hasDbXref ICD9CM:193 semapv:UnspecifiedMatching DOID:1781 thyroid cancer oboInOwl:hasDbXref KEGG:05216 semapv:UnspecifiedMatching DOID:1781 thyroid cancer oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching DOID:1781 thyroid cancer oboInOwl:hasDbXref NCI:C3414 semapv:UnspecifiedMatching DOID:1781 thyroid cancer oboInOwl:hasDbXref NCI:C7510 semapv:UnspecifiedMatching -DOID:1781 thyroid cancer oboInOwl:hasDbXref UMLS_CUI:C0007115 semapv:UnspecifiedMatching -DOID:1781 thyroid cancer oboInOwl:hasDbXref UMLS_CUI:C0040136 semapv:UnspecifiedMatching +DOID:1781 thyroid cancer oboInOwl:hasDbXref UMLS:C0007115 semapv:UnspecifiedMatching +DOID:1781 thyroid cancer oboInOwl:hasDbXref UMLS:C0040136 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref GARD:9371 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref ICD10CM:C75.1 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref NCI:C3330 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref NCI:C4769 semapv:UnspecifiedMatching -DOID:1785 pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0032019 semapv:UnspecifiedMatching -DOID:1785 pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0496842 semapv:UnspecifiedMatching +DOID:1785 pituitary cancer oboInOwl:hasDbXref UMLS:C0032019 semapv:UnspecifiedMatching +DOID:1785 pituitary cancer oboInOwl:hasDbXref UMLS:C0496842 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor oboInOwl:hasDbXref ICDO:8671/0 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor oboInOwl:hasDbXref MESH:D000314 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor oboInOwl:hasDbXref NCI:C2860 semapv:UnspecifiedMatching -DOID:1786 adrenal rest tumor oboInOwl:hasDbXref UMLS_CUI:C0001630 semapv:UnspecifiedMatching +DOID:1786 adrenal rest tumor oboInOwl:hasDbXref UMLS:C0001630 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor skos:exactMatch MESH:D000314 semapv:UnspecifiedMatching DOID:1787 pericarditis oboInOwl:hasDbXref MESH:D010493 semapv:UnspecifiedMatching DOID:1787 pericarditis oboInOwl:hasDbXref NCI:C34915 semapv:UnspecifiedMatching -DOID:1787 pericarditis oboInOwl:hasDbXref UMLS_CUI:C0031046 semapv:UnspecifiedMatching +DOID:1787 pericarditis oboInOwl:hasDbXref UMLS:C0031046 semapv:UnspecifiedMatching DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref ICD10CM:C45.1 semapv:UnspecifiedMatching DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref NCI:C8704 semapv:UnspecifiedMatching DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref NCI:C9350 semapv:UnspecifiedMatching -DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0346109 semapv:UnspecifiedMatching -DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0854886 semapv:UnspecifiedMatching +DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0346109 semapv:UnspecifiedMatching +DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0854886 semapv:UnspecifiedMatching DOID:1789 benign peritoneal mesothelioma oboInOwl:hasDbXref NCI:C7633 semapv:UnspecifiedMatching -DOID:1789 benign peritoneal mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1377610 semapv:UnspecifiedMatching +DOID:1789 benign peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C1377610 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref MESH:D000086002 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C27926 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C4456 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C7865 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C8420 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref OMIM:156240 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0278752 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0345967 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0392400 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1332338 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C0278752 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C0345967 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C0392400 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C1332338 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma skos:exactMatch OMIM:156240 semapv:UnspecifiedMatching DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref NCI:C40022 semapv:UnspecifiedMatching -DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1514428 semapv:UnspecifiedMatching +DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref UMLS:C1514428 semapv:UnspecifiedMatching DOID:1792 pancreas lymphoma oboInOwl:hasDbXref NCI:C5714 semapv:UnspecifiedMatching -DOID:1792 pancreas lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335307 semapv:UnspecifiedMatching +DOID:1792 pancreas lymphoma oboInOwl:hasDbXref UMLS:C1335307 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref GARD:9364 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD10CM:C25.0 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD10CM:C25.1 semapv:UnspecifiedMatching @@ -24804,115 +25112,115 @@ DOID:1793 pancreatic cancer oboInOwl:hasDbXref MESH:D010190 semapv:UnspecifiedMa DOID:1793 pancreatic cancer oboInOwl:hasDbXref NCI:C3305 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ORDO:1333 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ORDO:217074 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0030297 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153458 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153459 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153460 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153463 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS:C0030297 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS:C0153458 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS:C0153459 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS:C0153460 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS:C0153463 semapv:UnspecifiedMatching DOID:1795 malignant exocrine pancreas neoplasm oboInOwl:hasDbXref NCI:C7430 semapv:UnspecifiedMatching -DOID:1795 malignant exocrine pancreas neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346648 semapv:UnspecifiedMatching +DOID:1795 malignant exocrine pancreas neoplasm oboInOwl:hasDbXref UMLS:C0346648 semapv:UnspecifiedMatching DOID:1796 pancreas sarcoma oboInOwl:hasDbXref NCI:C5715 semapv:UnspecifiedMatching -DOID:1796 pancreas sarcoma oboInOwl:hasDbXref UMLS_CUI:C1096346 semapv:UnspecifiedMatching +DOID:1796 pancreas sarcoma oboInOwl:hasDbXref UMLS:C1096346 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref GARD:13034 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref ICD10CM:C25.4 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref ICD9CM:157.4 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref MESH:D018273 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref NCI:C3770 semapv:UnspecifiedMatching -DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1328479 semapv:UnspecifiedMatching +DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref UMLS:C1328479 semapv:UnspecifiedMatching DOID:1799 islet cell tumor oboInOwl:hasDbXref ICD10CM:C25.4 semapv:UnspecifiedMatching DOID:1799 islet cell tumor oboInOwl:hasDbXref ICD10CM:D13.7 semapv:UnspecifiedMatching DOID:1799 islet cell tumor oboInOwl:hasDbXref MESH:D007516 semapv:UnspecifiedMatching -DOID:1799 islet cell tumor oboInOwl:hasDbXref UMLS_CUI:C0242363 semapv:UnspecifiedMatching -DOID:1799 islet cell tumor oboInOwl:hasDbXref UMLS_CUI:C0496784 semapv:UnspecifiedMatching +DOID:1799 islet cell tumor oboInOwl:hasDbXref UMLS:C0242363 semapv:UnspecifiedMatching +DOID:1799 islet cell tumor oboInOwl:hasDbXref UMLS:C0496784 semapv:UnspecifiedMatching DOID:18 urinary system disease oboInOwl:hasDbXref NCI:C27599 semapv:UnspecifiedMatching -DOID:18 urinary system disease oboInOwl:hasDbXref UMLS_CUI:C1335051 semapv:UnspecifiedMatching +DOID:18 urinary system disease oboInOwl:hasDbXref UMLS:C1335051 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref ICDO:9262/0 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref MESH:D018214 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref NCI:C8422 semapv:UnspecifiedMatching -DOID:180 ossifying fibroma oboInOwl:hasDbXref UMLS_CUI:C0206640 semapv:UnspecifiedMatching +DOID:180 ossifying fibroma oboInOwl:hasDbXref UMLS:C0206640 semapv:UnspecifiedMatching DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref ICDO:8246/3 semapv:UnspecifiedMatching DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref MESH:D018278 semapv:UnspecifiedMatching DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C3773 semapv:UnspecifiedMatching -DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206695 semapv:UnspecifiedMatching +DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C0206695 semapv:UnspecifiedMatching DOID:1802 mononeuritis oboInOwl:hasDbXref ICD9CM:355.9 semapv:UnspecifiedMatching DOID:1802 mononeuritis oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching -DOID:1802 mononeuritis oboInOwl:hasDbXref UMLS_CUI:C0235880 semapv:UnspecifiedMatching +DOID:1802 mononeuritis oboInOwl:hasDbXref UMLS:C0235880 semapv:UnspecifiedMatching DOID:1803 neuritis oboInOwl:hasDbXref MESH:D009443 semapv:UnspecifiedMatching DOID:1803 neuritis oboInOwl:hasDbXref NCI:C116381 semapv:UnspecifiedMatching -DOID:1803 neuritis oboInOwl:hasDbXref UMLS_CUI:C0027813 semapv:UnspecifiedMatching +DOID:1803 neuritis oboInOwl:hasDbXref UMLS:C0027813 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref ICD10CM:G90.5 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref ICD9CM:337.2 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref MESH:D012019 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref NCI:C85042 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching -DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref UMLS_CUI:C0034931 semapv:UnspecifiedMatching +DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref UMLS:C0034931 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy skos:exactMatch OMIM:604335 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref MESH:D002114 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref NCI:C3672 semapv:UnspecifiedMatching -DOID:182 calcinosis oboInOwl:hasDbXref UMLS_CUI:C0006663 semapv:UnspecifiedMatching +DOID:182 calcinosis oboInOwl:hasDbXref UMLS:C0006663 semapv:UnspecifiedMatching DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref ICD10CM:H04.15 semapv:UnspecifiedMatching DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref ICD9CM:375.14 semapv:UnspecifiedMatching -DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref UMLS_CUI:C0339121 semapv:UnspecifiedMatching +DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref UMLS:C0339121 semapv:UnspecifiedMatching DOID:1824 status epilepticus oboInOwl:hasDbXref GARD:10191 semapv:UnspecifiedMatching DOID:1824 status epilepticus oboInOwl:hasDbXref MESH:D013226 semapv:UnspecifiedMatching DOID:1824 status epilepticus oboInOwl:hasDbXref NCI:C85079 semapv:UnspecifiedMatching -DOID:1824 status epilepticus oboInOwl:hasDbXref UMLS_CUI:C0038220 semapv:UnspecifiedMatching +DOID:1824 status epilepticus oboInOwl:hasDbXref UMLS:C0038220 semapv:UnspecifiedMatching DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref MESH:D004832 semapv:UnspecifiedMatching DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref NCI:C3023 semapv:UnspecifiedMatching -DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014553 semapv:UnspecifiedMatching +DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref UMLS:C0014553 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref EFO:0000474 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref ICD10CM:G40.909 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref ICD9CM:345.9 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref MESH:D004827 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref NCI:C3020 semapv:UnspecifiedMatching -DOID:1826 epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014544 semapv:UnspecifiedMatching +DOID:1826 epilepsy oboInOwl:hasDbXref UMLS:C0014544 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref MESH:D004829 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref NCI:C3021 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref OMIM:600669 semapv:UnspecifiedMatching -DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014548 semapv:UnspecifiedMatching +DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref UMLS:C0014548 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy skos:exactMatch OMIM:600669 semapv:UnspecifiedMatching DOID:1829 urethral stricture oboInOwl:hasDbXref ICD9CM:598.8 semapv:UnspecifiedMatching -DOID:1829 urethral stricture oboInOwl:hasDbXref UMLS_CUI:C0029752 semapv:UnspecifiedMatching +DOID:1829 urethral stricture oboInOwl:hasDbXref UMLS:C0029752 semapv:UnspecifiedMatching DOID:1829 urethral stricture skos:exactMatch MESH:D14525 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref GARD:7056 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref ICD10CM:G58.7 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref ICD9CM:354.5 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref NCI:C70938 semapv:UnspecifiedMatching -DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref UMLS_CUI:C0151295 semapv:UnspecifiedMatching +DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref UMLS:C0151295 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref ICD9CM:250.1 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref MESH:D016883 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref NCI:C50530 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref OMIM:612227 semapv:UnspecifiedMatching -DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref UMLS_CUI:C0011880 semapv:UnspecifiedMatching +DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref UMLS:C0011880 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis skos:exactMatch OMIM:612227 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref GARD:1521 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref MESH:D007706 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref NCI:C75486 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref OMIM:309400 semapv:UnspecifiedMatching -DOID:1838 Menkes disease oboInOwl:hasDbXref UMLS_CUI:C0022716 semapv:UnspecifiedMatching +DOID:1838 Menkes disease oboInOwl:hasDbXref UMLS:C0022716 semapv:UnspecifiedMatching DOID:1838 Menkes disease skos:exactMatch OMIM:309400 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref MESH:D001859 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref NCI:C9343 semapv:UnspecifiedMatching -DOID:184 bone cancer oboInOwl:hasDbXref UMLS_CUI:C0005967 semapv:UnspecifiedMatching +DOID:184 bone cancer oboInOwl:hasDbXref UMLS:C0005967 semapv:UnspecifiedMatching DOID:1844 mononeuritis of upper limb oboInOwl:hasDbXref ICD9CM:354.9 semapv:UnspecifiedMatching -DOID:1844 mononeuritis of upper limb oboInOwl:hasDbXref UMLS_CUI:C0154746 semapv:UnspecifiedMatching +DOID:1844 mononeuritis of upper limb oboInOwl:hasDbXref UMLS:C0154746 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref ICD10CM:F12.2 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref ICD9CM:304.3 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref MESH:D002189 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref NCI:C34445 semapv:UnspecifiedMatching -DOID:1849 cannabis dependence oboInOwl:hasDbXref UMLS_CUI:C0006870 semapv:UnspecifiedMatching +DOID:1849 cannabis dependence oboInOwl:hasDbXref UMLS:C0006870 semapv:UnspecifiedMatching DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref GARD:10214 semapv:UnspecifiedMatching DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref MESH:D002780 semapv:UnspecifiedMatching DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref NCI:C84400 semapv:UnspecifiedMatching DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref ORDO:284385 semapv:UnspecifiedMatching -DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0008372 semapv:UnspecifiedMatching +DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0008372 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref GARD:6036 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref ICD10CM:M27.8 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref MESH:D002636 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref NCI:C84630 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref OMIM:118400 semapv:UnspecifiedMatching -DOID:1856 cherubism oboInOwl:hasDbXref UMLS_CUI:C0008029 semapv:UnspecifiedMatching +DOID:1856 cherubism oboInOwl:hasDbXref UMLS:C0008029 semapv:UnspecifiedMatching DOID:1856 cherubism skos:exactMatch OMIM:118400 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref GARD:6995 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD10CM:Q78.1 semapv:UnspecifiedMatching @@ -24920,153 +25228,153 @@ DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD9CM:756.54 semapv:Unspe DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref NCI:C34610 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref UMLS_CUI:C0016065 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref UMLS:C0016065 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome skos:exactMatch MESH:D005359 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome skos:exactMatch OMIM:174800 semapv:UnspecifiedMatching DOID:1862 jaw cancer oboInOwl:hasDbXref MESH:D007573 semapv:UnspecifiedMatching -DOID:1862 jaw cancer oboInOwl:hasDbXref UMLS_CUI:C0022364 semapv:UnspecifiedMatching +DOID:1862 jaw cancer oboInOwl:hasDbXref UMLS:C0022364 semapv:UnspecifiedMatching DOID:1863 skull cancer oboInOwl:hasDbXref MESH:D012888 semapv:UnspecifiedMatching DOID:1863 skull cancer oboInOwl:hasDbXref NCI:C3375 semapv:UnspecifiedMatching -DOID:1863 skull cancer oboInOwl:hasDbXref UMLS_CUI:C0037305 semapv:UnspecifiedMatching +DOID:1863 skull cancer oboInOwl:hasDbXref UMLS:C0037305 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref ICD10CM:M27.1 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref ICD9CM:526.3 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref MESH:D006101 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref NCI:C173930 semapv:UnspecifiedMatching -DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref UMLS_CUI:C0162375 semapv:UnspecifiedMatching +DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref UMLS:C0162375 semapv:UnspecifiedMatching DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref ICD10CM:I09.2 semapv:UnspecifiedMatching DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref ICD9CM:393 semapv:UnspecifiedMatching -DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref UMLS_CUI:C0155561 semapv:UnspecifiedMatching +DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref UMLS:C0155561 semapv:UnspecifiedMatching DOID:1875 impotence oboInOwl:hasDbXref EFO:0004234 semapv:UnspecifiedMatching DOID:1875 impotence oboInOwl:hasDbXref NCI:C3133 semapv:UnspecifiedMatching DOID:1876 sexual dysfunction oboInOwl:hasDbXref ICD10CM:F52.9 semapv:UnspecifiedMatching DOID:1876 sexual dysfunction oboInOwl:hasDbXref NCI:C3347 semapv:UnspecifiedMatching -DOID:1876 sexual dysfunction oboInOwl:hasDbXref UMLS_CUI:C0549622 semapv:UnspecifiedMatching +DOID:1876 sexual dysfunction oboInOwl:hasDbXref UMLS:C0549622 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref NCI:C84473 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref OMIMPS:108800 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ORDO:1478 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect oboInOwl:hasDbXref UMLS_CUI:C0018817 semapv:UnspecifiedMatching +DOID:1882 atrial heart septal defect oboInOwl:hasDbXref UMLS:C0018817 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect skos:exactMatch OMIMPS:108800 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref EFO:0003047 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref ICD10CM:B19.20 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref ICD9CM:070.7 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref MESH:D006526 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref NCI:C3098 semapv:UnspecifiedMatching -DOID:1883 hepatitis C oboInOwl:hasDbXref UMLS_CUI:C0019196 semapv:UnspecifiedMatching +DOID:1883 hepatitis C oboInOwl:hasDbXref UMLS:C0019196 semapv:UnspecifiedMatching DOID:1884 viral hepatitis oboInOwl:hasDbXref MESH:D006524 semapv:UnspecifiedMatching -DOID:1884 viral hepatitis oboInOwl:hasDbXref UMLS_CUI:C0019194 semapv:UnspecifiedMatching +DOID:1884 viral hepatitis oboInOwl:hasDbXref UMLS:C0019194 semapv:UnspecifiedMatching DOID:1891 optic nerve disease oboInOwl:hasDbXref MESH:D009901 semapv:UnspecifiedMatching DOID:1891 optic nerve disease oboInOwl:hasDbXref NCI:C79698 semapv:UnspecifiedMatching -DOID:1891 optic nerve disease oboInOwl:hasDbXref UMLS_CUI:C0029132 semapv:UnspecifiedMatching +DOID:1891 optic nerve disease oboInOwl:hasDbXref UMLS:C0029132 semapv:UnspecifiedMatching DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref ICD10CM:H01.13 semapv:UnspecifiedMatching DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref ICD9CM:373.31 semapv:UnspecifiedMatching -DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155177 semapv:UnspecifiedMatching +DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref UMLS:C0155177 semapv:UnspecifiedMatching DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref ICD10CM:H01.1 semapv:UnspecifiedMatching DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref ICD9CM:373.3 semapv:UnspecifiedMatching -DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155176 semapv:UnspecifiedMatching +DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref UMLS:C0155176 semapv:UnspecifiedMatching DOID:1895 allergic contact dermatitis of eyelid oboInOwl:hasDbXref ICD9CM:373.32 semapv:UnspecifiedMatching -DOID:1895 allergic contact dermatitis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155178 semapv:UnspecifiedMatching +DOID:1895 allergic contact dermatitis of eyelid oboInOwl:hasDbXref UMLS:C0155178 semapv:UnspecifiedMatching DOID:1896 sigmoid neoplasm oboInOwl:hasDbXref MESH:D012811 semapv:UnspecifiedMatching -DOID:1896 sigmoid neoplasm oboInOwl:hasDbXref UMLS_CUI:C0037073 semapv:UnspecifiedMatching +DOID:1896 sigmoid neoplasm oboInOwl:hasDbXref UMLS:C0037073 semapv:UnspecifiedMatching DOID:1897 sigmoid disease oboInOwl:hasDbXref MESH:D012810 semapv:UnspecifiedMatching -DOID:1897 sigmoid disease oboInOwl:hasDbXref UMLS_CUI:C0037072 semapv:UnspecifiedMatching +DOID:1897 sigmoid disease oboInOwl:hasDbXref UMLS:C0037072 semapv:UnspecifiedMatching DOID:1901 vagina sarcoma oboInOwl:hasDbXref NCI:C7737 semapv:UnspecifiedMatching -DOID:1901 vagina sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238519 semapv:UnspecifiedMatching +DOID:1901 vagina sarcoma oboInOwl:hasDbXref UMLS:C0238519 semapv:UnspecifiedMatching DOID:1906 malignant skin fibrous histiocytoma oboInOwl:hasDbXref NCI:C5576 semapv:UnspecifiedMatching -DOID:1906 malignant skin fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1275254 semapv:UnspecifiedMatching +DOID:1906 malignant skin fibrous histiocytoma oboInOwl:hasDbXref UMLS:C1275254 semapv:UnspecifiedMatching DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref ICDO:8830/3 semapv:UnspecifiedMatching DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref MESH:D051677 semapv:UnspecifiedMatching DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref NCI:C4247 semapv:UnspecifiedMatching -DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0334463 semapv:UnspecifiedMatching +DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref UMLS:C0334463 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref EFO:0000756 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref ICDO:8720/3 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref KEGG:05218 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref MESH:D008545 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref NCI:C3224 semapv:UnspecifiedMatching -DOID:1909 melanoma oboInOwl:hasDbXref UMLS_CUI:C0025202 semapv:UnspecifiedMatching +DOID:1909 melanoma oboInOwl:hasDbXref UMLS:C0025202 semapv:UnspecifiedMatching DOID:1909 melanoma skos:exactMatch MESH:D008545 semapv:UnspecifiedMatching DOID:1910 vaginal yolk sac tumor oboInOwl:hasDbXref NCI:C6379 semapv:UnspecifiedMatching -DOID:1910 vaginal yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1336945 semapv:UnspecifiedMatching +DOID:1910 vaginal yolk sac tumor oboInOwl:hasDbXref UMLS:C1336945 semapv:UnspecifiedMatching DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref ICDO:9071/3 semapv:UnspecifiedMatching DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref MESH:D018240 semapv:UnspecifiedMatching DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref NCI:C3011 semapv:UnspecifiedMatching -DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C0014145 semapv:UnspecifiedMatching +DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref UMLS:C0014145 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10CM:E79.1 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref NCI:C61255 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:300322 semapv:UnspecifiedMatching -DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS_CUI:C0023374 semapv:UnspecifiedMatching +DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS:C0023374 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome skos:exactMatch OMIM:300322 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref ICDO:8590/1 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref MESH:D018312 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref NCI:C3794 semapv:UnspecifiedMatching -DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0206724 semapv:UnspecifiedMatching +DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref UMLS:C0206724 semapv:UnspecifiedMatching DOID:1920 hyperuricemia oboInOwl:hasDbXref MESH:D033461 semapv:UnspecifiedMatching DOID:1920 hyperuricemia oboInOwl:hasDbXref NCI:C3961 semapv:UnspecifiedMatching -DOID:1920 hyperuricemia oboInOwl:hasDbXref UMLS_CUI:C0740394 semapv:UnspecifiedMatching +DOID:1920 hyperuricemia oboInOwl:hasDbXref UMLS:C0740394 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref GARD:8705 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref ICD10CM:Q98.0 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref ICD9CM:758.7 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref MESH:D007713 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref NCI:C34752 semapv:UnspecifiedMatching -DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref UMLS_CUI:C0022735 semapv:UnspecifiedMatching +DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref UMLS:C0022735 semapv:UnspecifiedMatching DOID:1923 disorder of sexual development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching -DOID:1923 disorder of sexual development oboInOwl:hasDbXref UMLS_CUI:C0036875 semapv:UnspecifiedMatching +DOID:1923 disorder of sexual development oboInOwl:hasDbXref UMLS:C0036875 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref MESH:D007006 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref NCI:C9227 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:241100 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching -DOID:1924 hypogonadism oboInOwl:hasDbXref UMLS_CUI:C0020619 semapv:UnspecifiedMatching +DOID:1924 hypogonadism oboInOwl:hasDbXref UMLS:C0020619 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref GARD:6124 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref NCI:C35321 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref OMIMPS:135900 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref ORDO:1465 semapv:UnspecifiedMatching -DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS_CUI:C0265338 semapv:UnspecifiedMatching +DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS:C0265338 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome skos:exactMatch OMIMPS:135900 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref GARD:8233 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref ICD10CM:E75.22 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref MESH:D005776 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref NCI:C61268 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref ORDO:355 semapv:UnspecifiedMatching -DOID:1926 Gaucher's disease oboInOwl:hasDbXref UMLS_CUI:C0017205 semapv:UnspecifiedMatching +DOID:1926 Gaucher's disease oboInOwl:hasDbXref UMLS:C0017205 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref GARD:7672 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref ICD10CM:E75.3 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref MESH:D013106 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref NCI:C117254 semapv:UnspecifiedMatching -DOID:1927 sphingolipidosis oboInOwl:hasDbXref UMLS_CUI:C0037899 semapv:UnspecifiedMatching +DOID:1927 sphingolipidosis oboInOwl:hasDbXref UMLS:C0037899 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref ICD10CM:Q93.82 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref NCI:C85232 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref UMLS_CUI:C0175702 semapv:UnspecifiedMatching +DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref UMLS:C0175702 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome skos:exactMatch OMIM:194050 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref GARD:743 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref ICD10CM:Q25.3 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref MESH:D021921 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref NCI:C85176 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref OMIM:185500 semapv:UnspecifiedMatching -DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref UMLS_CUI:C0003499 semapv:UnspecifiedMatching +DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0003499 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis skos:exactMatch OMIM:185500 semapv:UnspecifiedMatching DOID:193 reproductive organ cancer oboInOwl:hasDbXref NCI:C3674 semapv:UnspecifiedMatching -DOID:193 reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0178830 semapv:UnspecifiedMatching +DOID:193 reproductive organ cancer oboInOwl:hasDbXref UMLS:C0178830 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref GARD:12635 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref MEDDRA:10056710 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref MESH:D007849 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref NCI:C34760 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref OMIM:245800 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref ORDO:2377 semapv:UnspecifiedMatching -DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS_CUI:C0023138 semapv:UnspecifiedMatching +DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS:C0023138 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome skos:exactMatch OMIM:245800 semapv:UnspecifiedMatching DOID:1931 hypothalamic disease oboInOwl:hasDbXref MESH:D007027 semapv:UnspecifiedMatching -DOID:1931 hypothalamic disease oboInOwl:hasDbXref UMLS_CUI:C0020655 semapv:UnspecifiedMatching +DOID:1931 hypothalamic disease oboInOwl:hasDbXref UMLS:C0020655 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref GARD:5810 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref ICD10CM:Q93.51 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref MESH:D017204 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref NCI:C75462 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching -DOID:1932 Angelman syndrome oboInOwl:hasDbXref UMLS_CUI:C0162635 semapv:UnspecifiedMatching +DOID:1932 Angelman syndrome oboInOwl:hasDbXref UMLS:C0162635 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome skos:exactMatch MESH:D017204 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome skos:exactMatch OMIM:105830 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref GARD:7593 semapv:UnspecifiedMatching @@ -25077,199 +25385,199 @@ DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:Unspec DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ORDO:783 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS_CUI:C0035934 semapv:UnspecifiedMatching +DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS:C0035934 semapv:UnspecifiedMatching DOID:1934 dysostosis oboInOwl:hasDbXref MESH:D004413 semapv:UnspecifiedMatching DOID:1934 dysostosis oboInOwl:hasDbXref NCI:C34560 semapv:UnspecifiedMatching -DOID:1934 dysostosis oboInOwl:hasDbXref UMLS_CUI:C0013393 semapv:UnspecifiedMatching +DOID:1934 dysostosis oboInOwl:hasDbXref UMLS:C0013393 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref GARD:6866 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref MESH:D020788 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref NCI:C118632 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIMPS:209900 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref ORDO:110 semapv:UnspecifiedMatching -DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS_CUI:C0752166 semapv:UnspecifiedMatching +DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS:C0752166 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome skos:exactMatch OMIMPS:209900 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref EFO:0003914 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD9CM:440 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref MESH:D050197 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref NCI:C35768 semapv:UnspecifiedMatching -DOID:1936 atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0004153 semapv:UnspecifiedMatching +DOID:1936 atherosclerosis oboInOwl:hasDbXref UMLS:C0004153 semapv:UnspecifiedMatching DOID:1936 atherosclerosis skos:exactMatch MESH:D050197 semapv:UnspecifiedMatching DOID:1942 intermittent squint oboInOwl:hasDbXref ICD10CM:H50.3 semapv:UnspecifiedMatching DOID:1942 intermittent squint oboInOwl:hasDbXref ICD9CM:378.2 semapv:UnspecifiedMatching -DOID:1942 intermittent squint oboInOwl:hasDbXref UMLS_CUI:C0152210 semapv:UnspecifiedMatching +DOID:1942 intermittent squint oboInOwl:hasDbXref UMLS:C0152210 semapv:UnspecifiedMatching DOID:1943 telogen effluvium oboInOwl:hasDbXref ICD10CM:L65.0 semapv:UnspecifiedMatching DOID:1943 telogen effluvium oboInOwl:hasDbXref ICD9CM:704.02 semapv:UnspecifiedMatching DOID:1943 telogen effluvium oboInOwl:hasDbXref NCI:C112200 semapv:UnspecifiedMatching -DOID:1943 telogen effluvium oboInOwl:hasDbXref UMLS_CUI:C0263518 semapv:UnspecifiedMatching +DOID:1943 telogen effluvium oboInOwl:hasDbXref UMLS:C0263518 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref ICD10CM:A59 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref ICD9CM:131 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref MEDDRA:10044620 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref MESH:D014245 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref NCI:C35720 semapv:UnspecifiedMatching -DOID:1947 trichomoniasis oboInOwl:hasDbXref UMLS_CUI:C0040921 semapv:UnspecifiedMatching +DOID:1947 trichomoniasis oboInOwl:hasDbXref UMLS:C0040921 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref GARD:30 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref ICD10CM:K81 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref ICD9CM:575.10 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref MESH:D002764 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref NCI:C34465 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref OMIM:600803 semapv:UnspecifiedMatching -DOID:1949 cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0008325 semapv:UnspecifiedMatching +DOID:1949 cholecystitis oboInOwl:hasDbXref UMLS:C0008325 semapv:UnspecifiedMatching DOID:1949 cholecystitis skos:exactMatch OMIM:600803 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref MESH:D005184 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref NCI:C26771 semapv:UnspecifiedMatching -DOID:1962 fallopian tube disease oboInOwl:hasDbXref UMLS_CUI:C0015556 semapv:UnspecifiedMatching +DOID:1962 fallopian tube disease oboInOwl:hasDbXref UMLS:C0015556 semapv:UnspecifiedMatching DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref MESH:D005185 semapv:UnspecifiedMatching DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref NCI:C3867 semapv:UnspecifiedMatching -DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238122 semapv:UnspecifiedMatching +DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref UMLS:C0238122 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref GARD:9162 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref ICD10CM:C57.0 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref ICD9CM:183.2 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref MESH:D005185 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref NCI:C3032 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref NCI:C7480 semapv:UnspecifiedMatching -DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS_CUI:C0015558 semapv:UnspecifiedMatching -DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS_CUI:C0153579 semapv:UnspecifiedMatching +DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS:C0015558 semapv:UnspecifiedMatching +DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS:C0153579 semapv:UnspecifiedMatching DOID:1965 fallopian tube leiomyosarcoma oboInOwl:hasDbXref NCI:C40128 semapv:UnspecifiedMatching -DOID:1965 fallopian tube leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517116 semapv:UnspecifiedMatching +DOID:1965 fallopian tube leiomyosarcoma oboInOwl:hasDbXref UMLS:C1517116 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref GARD:6880 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref ICDO:8890/3 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref NCI:C3158 semapv:UnspecifiedMatching -DOID:1967 leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0023269 semapv:UnspecifiedMatching +DOID:1967 leiomyosarcoma oboInOwl:hasDbXref UMLS:C0023269 semapv:UnspecifiedMatching DOID:1969 cerebral palsy oboInOwl:hasDbXref ICD10CM:G80 semapv:UnspecifiedMatching DOID:1969 cerebral palsy oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:1969 cerebral palsy oboInOwl:hasDbXref NCI:C34460 semapv:UnspecifiedMatching -DOID:1969 cerebral palsy oboInOwl:hasDbXref UMLS_CUI:C0007789 semapv:UnspecifiedMatching +DOID:1969 cerebral palsy oboInOwl:hasDbXref UMLS:C0007789 semapv:UnspecifiedMatching DOID:1970 fallopian tube carcinosarcoma oboInOwl:hasDbXref NCI:C40124 semapv:UnspecifiedMatching -DOID:1970 fallopian tube carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517117 semapv:UnspecifiedMatching +DOID:1970 fallopian tube carcinosarcoma oboInOwl:hasDbXref UMLS:C1517117 semapv:UnspecifiedMatching DOID:1973 fallopian tube adenosarcoma oboInOwl:hasDbXref NCI:C40125 semapv:UnspecifiedMatching -DOID:1973 fallopian tube adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517121 semapv:UnspecifiedMatching +DOID:1973 fallopian tube adenosarcoma oboInOwl:hasDbXref UMLS:C1517121 semapv:UnspecifiedMatching DOID:1974 adenosarcoma oboInOwl:hasDbXref ICDO:8933/3 semapv:UnspecifiedMatching DOID:1974 adenosarcoma oboInOwl:hasDbXref MESH:D018195 semapv:UnspecifiedMatching DOID:1974 adenosarcoma oboInOwl:hasDbXref NCI:C9474 semapv:UnspecifiedMatching -DOID:1974 adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C0001442 semapv:UnspecifiedMatching +DOID:1974 adenosarcoma oboInOwl:hasDbXref UMLS:C0001442 semapv:UnspecifiedMatching DOID:1974 adenosarcoma skos:exactMatch MESH:D018195 semapv:UnspecifiedMatching DOID:1975 thymus lipoma oboInOwl:hasDbXref NCI:C6452 semapv:UnspecifiedMatching -DOID:1975 thymus lipoma oboInOwl:hasDbXref UMLS_CUI:C1336744 semapv:UnspecifiedMatching +DOID:1975 thymus lipoma oboInOwl:hasDbXref UMLS:C1336744 semapv:UnspecifiedMatching DOID:1979 focal chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.0 semapv:UnspecifiedMatching DOID:1979 focal chorioretinitis oboInOwl:hasDbXref ICD9CM:363.0 semapv:UnspecifiedMatching -DOID:1979 focal chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0154870 semapv:UnspecifiedMatching +DOID:1979 focal chorioretinitis oboInOwl:hasDbXref UMLS:C0154870 semapv:UnspecifiedMatching DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref MESH:D012004 semapv:UnspecifiedMatching DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref NCI:C3350 semapv:UnspecifiedMatching -DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0034885 semapv:UnspecifiedMatching +DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref UMLS:C0034885 semapv:UnspecifiedMatching DOID:1988 rectum lymphoma oboInOwl:hasDbXref NCI:C5553 semapv:UnspecifiedMatching -DOID:1988 rectum lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335685 semapv:UnspecifiedMatching +DOID:1988 rectum lymphoma oboInOwl:hasDbXref UMLS:C1335685 semapv:UnspecifiedMatching DOID:1992 rectum malignant melanoma oboInOwl:hasDbXref NCI:C4640 semapv:UnspecifiedMatching -DOID:1992 rectum malignant melanoma oboInOwl:hasDbXref UMLS_CUI:C0349539 semapv:UnspecifiedMatching +DOID:1992 rectum malignant melanoma oboInOwl:hasDbXref UMLS:C0349539 semapv:UnspecifiedMatching DOID:1993 rectum cancer oboInOwl:hasDbXref ICD10CM:C20 semapv:UnspecifiedMatching DOID:1993 rectum cancer oboInOwl:hasDbXref ICD9CM:154.1 semapv:UnspecifiedMatching DOID:1993 rectum cancer oboInOwl:hasDbXref MESH:D012004 semapv:UnspecifiedMatching DOID:1993 rectum cancer oboInOwl:hasDbXref NCI:C7418 semapv:UnspecifiedMatching DOID:1993 rectum cancer oboInOwl:hasDbXref NCI:C9382 semapv:UnspecifiedMatching -DOID:1993 rectum cancer oboInOwl:hasDbXref UMLS_CUI:C0007113 semapv:UnspecifiedMatching -DOID:1993 rectum cancer oboInOwl:hasDbXref UMLS_CUI:C0949022 semapv:UnspecifiedMatching +DOID:1993 rectum cancer oboInOwl:hasDbXref UMLS:C0007113 semapv:UnspecifiedMatching +DOID:1993 rectum cancer oboInOwl:hasDbXref UMLS:C0949022 semapv:UnspecifiedMatching DOID:1995 rectum sarcoma oboInOwl:hasDbXref NCI:C5548 semapv:UnspecifiedMatching -DOID:1995 rectum sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335688 semapv:UnspecifiedMatching +DOID:1995 rectum sarcoma oboInOwl:hasDbXref UMLS:C1335688 semapv:UnspecifiedMatching DOID:1996 rectum adenocarcinoma oboInOwl:hasDbXref NCI:C9383 semapv:UnspecifiedMatching -DOID:1996 rectum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0149978 semapv:UnspecifiedMatching +DOID:1996 rectum adenocarcinoma oboInOwl:hasDbXref UMLS:C0149978 semapv:UnspecifiedMatching DOID:1998 Lutembacher's syndrome oboInOwl:hasDbXref MESH:D008185 semapv:UnspecifiedMatching -DOID:1998 Lutembacher's syndrome oboInOwl:hasDbXref UMLS_CUI:C0024164 semapv:UnspecifiedMatching +DOID:1998 Lutembacher's syndrome oboInOwl:hasDbXref UMLS:C0024164 semapv:UnspecifiedMatching DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref ICD10CM:H68.02 semapv:UnspecifiedMatching DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref ICD9CM:381.52 semapv:UnspecifiedMatching -DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref UMLS_CUI:C0155430 semapv:UnspecifiedMatching +DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref UMLS:C0155430 semapv:UnspecifiedMatching DOID:200 benign giant cell tumor oboInOwl:hasDbXref MESH:D005870 semapv:UnspecifiedMatching DOID:200 benign giant cell tumor oboInOwl:hasDbXref NCI:C3055 semapv:UnspecifiedMatching -DOID:200 benign giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C0017525 semapv:UnspecifiedMatching +DOID:200 benign giant cell tumor oboInOwl:hasDbXref UMLS:C0017525 semapv:UnspecifiedMatching DOID:2000 otosalpingitis oboInOwl:hasDbXref ICD10CM:H68.0 semapv:UnspecifiedMatching DOID:2000 otosalpingitis oboInOwl:hasDbXref ICD9CM:381.5 semapv:UnspecifiedMatching -DOID:2000 otosalpingitis oboInOwl:hasDbXref UMLS_CUI:C0155428 semapv:UnspecifiedMatching +DOID:2000 otosalpingitis oboInOwl:hasDbXref UMLS:C0155428 semapv:UnspecifiedMatching DOID:2001 neuroma oboInOwl:hasDbXref ICDO:9570/0 semapv:UnspecifiedMatching DOID:2001 neuroma oboInOwl:hasDbXref MESH:D009463 semapv:UnspecifiedMatching DOID:2001 neuroma oboInOwl:hasDbXref NCI:C3275 semapv:UnspecifiedMatching -DOID:2001 neuroma oboInOwl:hasDbXref UMLS_CUI:C0027858 semapv:UnspecifiedMatching +DOID:2001 neuroma oboInOwl:hasDbXref UMLS:C0027858 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref ICD9CM:362.56 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref MESH:D019773 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref NCI:C175882 semapv:UnspecifiedMatching -DOID:2006 preretinal fibrosis oboInOwl:hasDbXref UMLS_CUI:C0339543 semapv:UnspecifiedMatching +DOID:2006 preretinal fibrosis oboInOwl:hasDbXref UMLS:C0339543 semapv:UnspecifiedMatching DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref ICD10CM:H35.3 semapv:UnspecifiedMatching DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref ICD9CM:362.5 semapv:UnspecifiedMatching -DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref UMLS_CUI:C0339436 semapv:UnspecifiedMatching +DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref UMLS:C0339436 semapv:UnspecifiedMatching DOID:201 connective tissue cancer oboInOwl:hasDbXref MESH:D009372 semapv:UnspecifiedMatching -DOID:201 connective tissue cancer oboInOwl:hasDbXref UMLS_CUI:C0027656 semapv:UnspecifiedMatching +DOID:201 connective tissue cancer oboInOwl:hasDbXref UMLS:C0027656 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ICD10CM:D81.4 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ICD9CM:279.13 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref OMIM:242700 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ORDO:83471 semapv:UnspecifiedMatching -DOID:2012 Nezelof syndrome oboInOwl:hasDbXref UMLS_CUI:C0152094 semapv:UnspecifiedMatching +DOID:2012 Nezelof syndrome oboInOwl:hasDbXref UMLS:C0152094 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome skos:exactMatch OMIM:242700 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref ICD10CM:E16.1 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref MESH:D006946 semapv:UnspecifiedMatching -DOID:2018 hyperinsulinism oboInOwl:hasDbXref UMLS_CUI:C0020459 semapv:UnspecifiedMatching +DOID:2018 hyperinsulinism oboInOwl:hasDbXref UMLS:C0020459 semapv:UnspecifiedMatching DOID:2021 placenta cancer oboInOwl:hasDbXref ICD10CM:C58 semapv:UnspecifiedMatching DOID:2021 placenta cancer oboInOwl:hasDbXref ICD9CM:181 semapv:UnspecifiedMatching DOID:2021 placenta cancer oboInOwl:hasDbXref NCI:C3555 semapv:UnspecifiedMatching -DOID:2021 placenta cancer oboInOwl:hasDbXref UMLS_CUI:C0153572 semapv:UnspecifiedMatching +DOID:2021 placenta cancer oboInOwl:hasDbXref UMLS:C0153572 semapv:UnspecifiedMatching DOID:2024 placental choriocarcinoma oboInOwl:hasDbXref NCI:C8893 semapv:UnspecifiedMatching -DOID:2024 placental choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0855173 semapv:UnspecifiedMatching +DOID:2024 placental choriocarcinoma oboInOwl:hasDbXref UMLS:C0855173 semapv:UnspecifiedMatching DOID:2025 gestational choriocarcinoma oboInOwl:hasDbXref NCI:C4646 semapv:UnspecifiedMatching -DOID:2025 gestational choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0349557 semapv:UnspecifiedMatching +DOID:2025 gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C0349557 semapv:UnspecifiedMatching DOID:203 exostosis oboInOwl:hasDbXref ICD10CM:M27.8 semapv:UnspecifiedMatching DOID:203 exostosis oboInOwl:hasDbXref ICD9CM:726.91 semapv:UnspecifiedMatching DOID:203 exostosis oboInOwl:hasDbXref MESH:D005096 semapv:UnspecifiedMatching DOID:203 exostosis oboInOwl:hasDbXref NCI:C3029 semapv:UnspecifiedMatching -DOID:203 exostosis oboInOwl:hasDbXref UMLS_CUI:C1442903 semapv:UnspecifiedMatching +DOID:203 exostosis oboInOwl:hasDbXref UMLS:C1442903 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref ICD10CM:F41.9 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref MESH:D001008 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref NCI:C2878 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref OMIM:607834 semapv:UnspecifiedMatching -DOID:2030 anxiety disorder oboInOwl:hasDbXref UMLS_CUI:C0003469 semapv:UnspecifiedMatching +DOID:2030 anxiety disorder oboInOwl:hasDbXref UMLS:C0003469 semapv:UnspecifiedMatching DOID:2030 anxiety disorder skos:exactMatch OMIM:607834 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref ICD10CM:F80.9 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref MESH:D003147 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref NCI:C2958 semapv:UnspecifiedMatching -DOID:2033 communication disorder oboInOwl:hasDbXref UMLS_CUI:C0009460 semapv:UnspecifiedMatching +DOID:2033 communication disorder oboInOwl:hasDbXref UMLS:C0009460 semapv:UnspecifiedMatching DOID:2034 encephalomalacia oboInOwl:hasDbXref MESH:D004678 semapv:UnspecifiedMatching DOID:2034 encephalomalacia oboInOwl:hasDbXref NCI:C98920 semapv:UnspecifiedMatching -DOID:2034 encephalomalacia oboInOwl:hasDbXref UMLS_CUI:C0014068 semapv:UnspecifiedMatching +DOID:2034 encephalomalacia oboInOwl:hasDbXref UMLS:C0014068 semapv:UnspecifiedMatching DOID:204 enthesopathy oboInOwl:hasDbXref ICD10CM:M77.9 semapv:UnspecifiedMatching DOID:204 enthesopathy oboInOwl:hasDbXref ICD9CM:726.90 semapv:UnspecifiedMatching DOID:204 enthesopathy oboInOwl:hasDbXref MESH:D000070676 semapv:UnspecifiedMatching -DOID:204 enthesopathy oboInOwl:hasDbXref UMLS_CUI:C0242490 semapv:UnspecifiedMatching +DOID:204 enthesopathy oboInOwl:hasDbXref UMLS:C0242490 semapv:UnspecifiedMatching DOID:204 enthesopathy skos:exactMatch MESH:D000070676 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref EFO:0004197 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref MESH:D006509 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref NCI:C3097 semapv:UnspecifiedMatching -DOID:2043 hepatitis B oboInOwl:hasDbXref UMLS_CUI:C0019163 semapv:UnspecifiedMatching +DOID:2043 hepatitis B oboInOwl:hasDbXref UMLS:C0019163 semapv:UnspecifiedMatching DOID:2044 drug-induced hepatitis oboInOwl:hasDbXref MESH:D056487 semapv:UnspecifiedMatching -DOID:2044 drug-induced hepatitis oboInOwl:hasDbXref UMLS_CUI:C0524912 semapv:UnspecifiedMatching +DOID:2044 drug-induced hepatitis oboInOwl:hasDbXref UMLS:C0524912 semapv:UnspecifiedMatching DOID:2047 hepatitis D oboInOwl:hasDbXref MESH:D003699 semapv:UnspecifiedMatching -DOID:2047 hepatitis D oboInOwl:hasDbXref UMLS_CUI:C0011226 semapv:UnspecifiedMatching +DOID:2047 hepatitis D oboInOwl:hasDbXref UMLS:C0011226 semapv:UnspecifiedMatching DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref GARD:5871 semapv:UnspecifiedMatching DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref ICD9CM:571.42 semapv:UnspecifiedMatching DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref MESH:D019693 semapv:UnspecifiedMatching DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref NCI:C27778 semapv:UnspecifiedMatching -DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS_CUI:C0241910 semapv:UnspecifiedMatching -DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS_CUI:C1332355 semapv:UnspecifiedMatching +DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS:C0241910 semapv:UnspecifiedMatching +DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS:C1332355 semapv:UnspecifiedMatching DOID:205 hyperostosis oboInOwl:hasDbXref ICD10CM:M89.3 semapv:UnspecifiedMatching DOID:205 hyperostosis oboInOwl:hasDbXref MESH:D015576 semapv:UnspecifiedMatching DOID:205 hyperostosis oboInOwl:hasDbXref NCI:C34712 semapv:UnspecifiedMatching -DOID:205 hyperostosis oboInOwl:hasDbXref UMLS_CUI:C0020492 semapv:UnspecifiedMatching +DOID:205 hyperostosis oboInOwl:hasDbXref UMLS:C0020492 semapv:UnspecifiedMatching DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J01.0 semapv:UnspecifiedMatching DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref ICD9CM:461.0 semapv:UnspecifiedMatching -DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155804 semapv:UnspecifiedMatching +DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref UMLS:C0155804 semapv:UnspecifiedMatching DOID:2051 maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J32.0 semapv:UnspecifiedMatching DOID:2051 maxillary sinusitis oboInOwl:hasDbXref MESH:D015523 semapv:UnspecifiedMatching DOID:2051 maxillary sinusitis oboInOwl:hasDbXref NCI:C34809 semapv:UnspecifiedMatching -DOID:2051 maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0024959 semapv:UnspecifiedMatching +DOID:2051 maxillary sinusitis oboInOwl:hasDbXref UMLS:C0024959 semapv:UnspecifiedMatching DOID:2053 reactive cutaneous fibrous lesion oboInOwl:hasDbXref NCI:C27549 semapv:UnspecifiedMatching -DOID:2053 reactive cutaneous fibrous lesion oboInOwl:hasDbXref UMLS_CUI:C1335666 semapv:UnspecifiedMatching +DOID:2053 reactive cutaneous fibrous lesion oboInOwl:hasDbXref UMLS:C1335666 semapv:UnspecifiedMatching DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref ICD10CM:F43.1 semapv:UnspecifiedMatching DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref ICD9CM:309.81 semapv:UnspecifiedMatching DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref MESH:D013313 semapv:UnspecifiedMatching DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref NCI:C3389 semapv:UnspecifiedMatching -DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref UMLS_CUI:C0038436 semapv:UnspecifiedMatching +DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref UMLS:C0038436 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref GARD:12313 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref NCI:C34444 semapv:UnspecifiedMatching @@ -25282,10 +25590,10 @@ DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:614162 semap DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref ORDO:1334 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006845 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS:C0006845 semapv:UnspecifiedMatching DOID:2059 vulvar disease oboInOwl:hasDbXref MESH:D014845 semapv:UnspecifiedMatching DOID:2059 vulvar disease oboInOwl:hasDbXref NCI:C27631 semapv:UnspecifiedMatching -DOID:2059 vulvar disease oboInOwl:hasDbXref UMLS_CUI:C0042994 semapv:UnspecifiedMatching +DOID:2059 vulvar disease oboInOwl:hasDbXref UMLS:C0042994 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ICD10CM:Q78.6 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref MESH:D005097 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref NCI:C5183 semapv:UnspecifiedMatching @@ -25293,93 +25601,93 @@ DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133700 semapv:Uns DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ORDO:321 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref UMLS_CUI:C0015306 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref UMLS:C0015306 semapv:UnspecifiedMatching DOID:2060 vulvar nodular hidradenoma oboInOwl:hasDbXref NCI:C40312 semapv:UnspecifiedMatching -DOID:2060 vulvar nodular hidradenoma oboInOwl:hasDbXref UMLS_CUI:C1520091 semapv:UnspecifiedMatching +DOID:2060 vulvar nodular hidradenoma oboInOwl:hasDbXref UMLS:C1520091 semapv:UnspecifiedMatching DOID:2064 vulvar syringoma oboInOwl:hasDbXref NCI:C40311 semapv:UnspecifiedMatching -DOID:2064 vulvar syringoma oboInOwl:hasDbXref UMLS_CUI:C1520099 semapv:UnspecifiedMatching +DOID:2064 vulvar syringoma oboInOwl:hasDbXref UMLS:C1520099 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref GARD:10547 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref ICDO:8407/0 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref MESH:D018252 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref NCI:C3761 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref OMIM:186600 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref UMLS_CUI:C0206673 semapv:UnspecifiedMatching +DOID:2065 syringoma oboInOwl:hasDbXref UMLS:C0206673 semapv:UnspecifiedMatching DOID:2065 syringoma skos:exactMatch OMIM:186600 semapv:UnspecifiedMatching DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref NCI:C8596 semapv:UnspecifiedMatching -DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C1274281 semapv:UnspecifiedMatching +DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref UMLS:C1274281 semapv:UnspecifiedMatching DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref NCI:C6434 semapv:UnspecifiedMatching -DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0220616 semapv:UnspecifiedMatching +DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref UMLS:C0220616 semapv:UnspecifiedMatching DOID:2071 vulvar squamous papilloma oboInOwl:hasDbXref NCI:C6376 semapv:UnspecifiedMatching -DOID:2071 vulvar squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1336982 semapv:UnspecifiedMatching +DOID:2071 vulvar squamous papilloma oboInOwl:hasDbXref UMLS:C1336982 semapv:UnspecifiedMatching DOID:2072 vulvar squamous tumor oboInOwl:hasDbXref NCI:C40283 semapv:UnspecifiedMatching -DOID:2072 vulvar squamous tumor oboInOwl:hasDbXref UMLS_CUI:C1520097 semapv:UnspecifiedMatching +DOID:2072 vulvar squamous tumor oboInOwl:hasDbXref UMLS:C1520097 semapv:UnspecifiedMatching DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref ICD10CM:P78.0 semapv:UnspecifiedMatching DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref ICD9CM:777.6 semapv:UnspecifiedMatching -DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref UMLS_CUI:C0159006 semapv:UnspecifiedMatching +DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref UMLS:C0159006 semapv:UnspecifiedMatching DOID:2074 intestinal perforation oboInOwl:hasDbXref ICD9CM:569.83 semapv:UnspecifiedMatching DOID:2074 intestinal perforation oboInOwl:hasDbXref MESH:D007416 semapv:UnspecifiedMatching DOID:2074 intestinal perforation oboInOwl:hasDbXref NCI:C39611 semapv:UnspecifiedMatching -DOID:2074 intestinal perforation oboInOwl:hasDbXref UMLS_CUI:C0021845 semapv:UnspecifiedMatching +DOID:2074 intestinal perforation oboInOwl:hasDbXref UMLS:C0021845 semapv:UnspecifiedMatching DOID:2075 minor vestibular glands adenoma oboInOwl:hasDbXref NCI:C40301 semapv:UnspecifiedMatching -DOID:2075 minor vestibular glands adenoma oboInOwl:hasDbXref UMLS_CUI:C1510791 semapv:UnspecifiedMatching +DOID:2075 minor vestibular glands adenoma oboInOwl:hasDbXref UMLS:C1510791 semapv:UnspecifiedMatching DOID:2076 vulvar glandular tumor oboInOwl:hasDbXref NCI:C40292 semapv:UnspecifiedMatching -DOID:2076 vulvar glandular tumor oboInOwl:hasDbXref UMLS_CUI:C1520082 semapv:UnspecifiedMatching +DOID:2076 vulvar glandular tumor oboInOwl:hasDbXref UMLS:C1520082 semapv:UnspecifiedMatching DOID:2078 chondroid syringoma of the vulva oboInOwl:hasDbXref NCI:C40302 semapv:UnspecifiedMatching -DOID:2078 chondroid syringoma of the vulva oboInOwl:hasDbXref UMLS_CUI:C1511091 semapv:UnspecifiedMatching +DOID:2078 chondroid syringoma of the vulva oboInOwl:hasDbXref UMLS:C1511091 semapv:UnspecifiedMatching DOID:2079 eccrine mixed tumor of skin oboInOwl:hasDbXref NCI:C4474 semapv:UnspecifiedMatching -DOID:2079 eccrine mixed tumor of skin oboInOwl:hasDbXref UMLS_CUI:C0346026 semapv:UnspecifiedMatching +DOID:2079 eccrine mixed tumor of skin oboInOwl:hasDbXref UMLS:C0346026 semapv:UnspecifiedMatching DOID:2080 vulvar trichoepithelioma oboInOwl:hasDbXref NCI:C40314 semapv:UnspecifiedMatching -DOID:2080 vulvar trichoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1520100 semapv:UnspecifiedMatching +DOID:2080 vulvar trichoepithelioma oboInOwl:hasDbXref UMLS:C1520100 semapv:UnspecifiedMatching DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref ICD10CM:K59.02 semapv:UnspecifiedMatching DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref ICD9CM:564.02 semapv:UnspecifiedMatching -DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref UMLS_CUI:C0949134 semapv:UnspecifiedMatching +DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref UMLS:C0949134 semapv:UnspecifiedMatching DOID:2089 obsolete constipation oboInOwl:hasDbXref ICD10CM:K59.0 semapv:UnspecifiedMatching DOID:2089 obsolete constipation oboInOwl:hasDbXref ICD9CM:564.0 semapv:UnspecifiedMatching DOID:2089 obsolete constipation oboInOwl:hasDbXref MESH:D003248 semapv:UnspecifiedMatching DOID:2089 obsolete constipation oboInOwl:hasDbXref NCI:C37930 semapv:UnspecifiedMatching -DOID:2089 obsolete constipation oboInOwl:hasDbXref UMLS_CUI:C0009806 semapv:UnspecifiedMatching +DOID:2089 obsolete constipation oboInOwl:hasDbXref UMLS:C0009806 semapv:UnspecifiedMatching DOID:2092 transient arthritis oboInOwl:hasDbXref ICD10CM:M12.8 semapv:UnspecifiedMatching DOID:2092 transient arthritis oboInOwl:hasDbXref ICD9CM:716.4 semapv:UnspecifiedMatching DOID:2092 transient arthritis oboInOwl:hasDbXref NCI:C35761 semapv:UnspecifiedMatching -DOID:2092 transient arthritis oboInOwl:hasDbXref UMLS_CUI:C0152083 semapv:UnspecifiedMatching +DOID:2092 transient arthritis oboInOwl:hasDbXref UMLS:C0152083 semapv:UnspecifiedMatching DOID:2093 vulvar melanoma oboInOwl:hasDbXref NCI:C40329 semapv:UnspecifiedMatching -DOID:2093 vulvar melanoma oboInOwl:hasDbXref UMLS_CUI:C0241989 semapv:UnspecifiedMatching +DOID:2093 vulvar melanoma oboInOwl:hasDbXref UMLS:C0241989 semapv:UnspecifiedMatching DOID:2095 sweat gland cancer oboInOwl:hasDbXref ICD10CM:C44 semapv:UnspecifiedMatching DOID:2095 sweat gland cancer oboInOwl:hasDbXref NCI:C4810 semapv:UnspecifiedMatching -DOID:2095 sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1321904 semapv:UnspecifiedMatching +DOID:2095 sweat gland cancer oboInOwl:hasDbXref UMLS:C1321904 semapv:UnspecifiedMatching DOID:2096 vulvar sarcoma oboInOwl:hasDbXref NCI:C40317 semapv:UnspecifiedMatching -DOID:2096 vulvar sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238525 semapv:UnspecifiedMatching +DOID:2096 vulvar sarcoma oboInOwl:hasDbXref UMLS:C0238525 semapv:UnspecifiedMatching DOID:2097 vulval Paget's disease oboInOwl:hasDbXref NCI:C4027 semapv:UnspecifiedMatching -DOID:2097 vulval Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1275217 semapv:UnspecifiedMatching +DOID:2097 vulval Paget's disease oboInOwl:hasDbXref UMLS:C1275217 semapv:UnspecifiedMatching DOID:2098 vulva adenocarcinoma oboInOwl:hasDbXref NCI:C6380 semapv:UnspecifiedMatching -DOID:2098 vulva adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336975 semapv:UnspecifiedMatching +DOID:2098 vulva adenocarcinoma oboInOwl:hasDbXref UMLS:C1336975 semapv:UnspecifiedMatching DOID:210 heel spur oboInOwl:hasDbXref ICD10CM:M77.3 semapv:UnspecifiedMatching DOID:210 heel spur oboInOwl:hasDbXref ICD9CM:726.73 semapv:UnspecifiedMatching DOID:210 heel spur oboInOwl:hasDbXref MESH:D036982 semapv:UnspecifiedMatching -DOID:210 heel spur oboInOwl:hasDbXref UMLS_CUI:C0158322 semapv:UnspecifiedMatching +DOID:210 heel spur oboInOwl:hasDbXref UMLS:C0158322 semapv:UnspecifiedMatching DOID:2101 vulva squamous cell carcinoma oboInOwl:hasDbXref NCI:C4052 semapv:UnspecifiedMatching -DOID:2101 vulva squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280856 semapv:UnspecifiedMatching +DOID:2101 vulva squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0280856 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref GARD:12301 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref ICD9CM:359.22 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref MESH:D009224 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref NCI:C84912 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref ORDO:614 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref UMLS_CUI:C0027127 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref UMLS:C0027127 semapv:UnspecifiedMatching DOID:2112 cystoisosporiasis oboInOwl:hasDbXref ICD10CM:A07.3 semapv:UnspecifiedMatching DOID:2112 cystoisosporiasis oboInOwl:hasDbXref MESH:D021865 semapv:UnspecifiedMatching DOID:2112 cystoisosporiasis oboInOwl:hasDbXref NCI:C4076 semapv:UnspecifiedMatching -DOID:2112 cystoisosporiasis oboInOwl:hasDbXref UMLS_CUI:C0311386 semapv:UnspecifiedMatching +DOID:2112 cystoisosporiasis oboInOwl:hasDbXref UMLS:C0311386 semapv:UnspecifiedMatching DOID:2113 coccidiosis oboInOwl:hasDbXref MESH:D003048 semapv:UnspecifiedMatching DOID:2113 coccidiosis oboInOwl:hasDbXref NCI:C34493 semapv:UnspecifiedMatching -DOID:2113 coccidiosis oboInOwl:hasDbXref UMLS_CUI:C0009187 semapv:UnspecifiedMatching +DOID:2113 coccidiosis oboInOwl:hasDbXref UMLS:C0009187 semapv:UnspecifiedMatching DOID:2115 B cell deficiency oboInOwl:hasDbXref ICD9CM:279.03 semapv:UnspecifiedMatching -DOID:2115 B cell deficiency oboInOwl:hasDbXref UMLS_CUI:C0154276 semapv:UnspecifiedMatching +DOID:2115 B cell deficiency oboInOwl:hasDbXref UMLS:C0154276 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref GARD:6457 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref NCI:C84715 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref ORDO:2092 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0016395 semapv:UnspecifiedMatching +DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref UMLS:C0016395 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia skos:exactMatch OMIM:305600 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref GARD:6317 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ICD9CM:757.31 semapv:UnspecifiedMatching @@ -25387,77 +25695,77 @@ DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref MESH:D004476 semapv:Unspecifie DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref NCI:C84683 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref OMIMPS:305100 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ORDO:79373 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0013575 semapv:UnspecifiedMatching +DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0013575 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia skos:exactMatch OMIMPS:305100 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref ICD10CM:A21.2 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref ICD9CM:021.2 semapv:UnspecifiedMatching -DOID:2122 pneumonic tularemia oboInOwl:hasDbXref UMLS_CUI:C0339946 semapv:UnspecifiedMatching +DOID:2122 pneumonic tularemia oboInOwl:hasDbXref UMLS:C0339946 semapv:UnspecifiedMatching DOID:2123 tularemia oboInOwl:hasDbXref GARD:396 semapv:UnspecifiedMatching DOID:2123 tularemia oboInOwl:hasDbXref ICD9CM:021.8 semapv:UnspecifiedMatching -DOID:2123 tularemia oboInOwl:hasDbXref UMLS_CUI:C0029835 semapv:UnspecifiedMatching +DOID:2123 tularemia oboInOwl:hasDbXref UMLS:C0029835 semapv:UnspecifiedMatching DOID:2127 brain germinoma oboInOwl:hasDbXref NCI:C6284 semapv:UnspecifiedMatching -DOID:2127 brain germinoma oboInOwl:hasDbXref UMLS_CUI:C1332606 semapv:UnspecifiedMatching +DOID:2127 brain germinoma oboInOwl:hasDbXref UMLS:C1332606 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICDO:9508/3 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref NCI:C6906 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ORDO:99966 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS_CUI:C1266184 semapv:UnspecifiedMatching +DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS:C1266184 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref NCI:C5154 semapv:UnspecifiedMatching -DOID:2132 brain sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332607 semapv:UnspecifiedMatching +DOID:2132 brain sarcoma oboInOwl:hasDbXref UMLS:C1332607 semapv:UnspecifiedMatching DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref NCI:C5153 semapv:UnspecifiedMatching -DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332892 semapv:UnspecifiedMatching +DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref UMLS:C1332892 semapv:UnspecifiedMatching DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.2 semapv:UnspecifiedMatching DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.2 semapv:UnspecifiedMatching DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref NCI:C5567 semapv:UnspecifiedMatching -DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153636 semapv:UnspecifiedMatching -DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263887 semapv:UnspecifiedMatching -DOID:2139 paraurethral gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C0341766 semapv:UnspecifiedMatching +DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS:C0153636 semapv:UnspecifiedMatching +DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS:C1263887 semapv:UnspecifiedMatching +DOID:2139 paraurethral gland neoplasm oboInOwl:hasDbXref UMLS:C0341766 semapv:UnspecifiedMatching DOID:214 teeth hard tissue disease oboInOwl:hasDbXref ICD10CM:K03.8 semapv:UnspecifiedMatching DOID:214 teeth hard tissue disease oboInOwl:hasDbXref ICD9CM:521.8 semapv:UnspecifiedMatching -DOID:214 teeth hard tissue disease oboInOwl:hasDbXref UMLS_CUI:C0029770 semapv:UnspecifiedMatching +DOID:214 teeth hard tissue disease oboInOwl:hasDbXref UMLS:C0029770 semapv:UnspecifiedMatching DOID:2140 urethral urothelial papilloma oboInOwl:hasDbXref NCI:C5061 semapv:UnspecifiedMatching -DOID:2140 urethral urothelial papilloma oboInOwl:hasDbXref UMLS_CUI:C1519826 semapv:UnspecifiedMatching +DOID:2140 urethral urothelial papilloma oboInOwl:hasDbXref UMLS:C1519826 semapv:UnspecifiedMatching DOID:2142 urethra leiomyoma oboInOwl:hasDbXref NCI:C6171 semapv:UnspecifiedMatching -DOID:2142 urethra leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336888 semapv:UnspecifiedMatching +DOID:2142 urethra leiomyoma oboInOwl:hasDbXref UMLS:C1336888 semapv:UnspecifiedMatching DOID:2143 ovarian malignant mesothelioma oboInOwl:hasDbXref NCI:C40444 semapv:UnspecifiedMatching -DOID:2143 ovarian malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1518721 semapv:UnspecifiedMatching +DOID:2143 ovarian malignant mesothelioma oboInOwl:hasDbXref UMLS:C1518721 semapv:UnspecifiedMatching DOID:2145 malignant ovarian cyst oboInOwl:hasDbXref NCI:C3843 semapv:UnspecifiedMatching -DOID:2145 malignant ovarian cyst oboInOwl:hasDbXref UMLS_CUI:C0235770 semapv:UnspecifiedMatching +DOID:2145 malignant ovarian cyst oboInOwl:hasDbXref UMLS:C0235770 semapv:UnspecifiedMatching DOID:2146 ovary sarcoma oboInOwl:hasDbXref NCI:C8267 semapv:UnspecifiedMatching -DOID:2146 ovary sarcoma oboInOwl:hasDbXref UMLS_CUI:C0280746 semapv:UnspecifiedMatching +DOID:2146 ovary sarcoma oboInOwl:hasDbXref UMLS:C0280746 semapv:UnspecifiedMatching DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref ICD10CM:A18.17 semapv:UnspecifiedMatching DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref ICD9CM:016.6 semapv:UnspecifiedMatching -DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref UMLS_CUI:C0152828 semapv:UnspecifiedMatching +DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref UMLS:C0152828 semapv:UnspecifiedMatching DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref ICD10CM:A18.1 semapv:UnspecifiedMatching DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref ICD9CM:016 semapv:UnspecifiedMatching DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref MESH:D014401 semapv:UnspecifiedMatching -DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041333 semapv:UnspecifiedMatching +DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref UMLS:C0041333 semapv:UnspecifiedMatching DOID:2150 ovarian lymphoma oboInOwl:hasDbXref NCI:C40021 semapv:UnspecifiedMatching -DOID:2150 ovarian lymphoma oboInOwl:hasDbXref UMLS_CUI:C1518720 semapv:UnspecifiedMatching +DOID:2150 ovarian lymphoma oboInOwl:hasDbXref UMLS:C1518720 semapv:UnspecifiedMatching DOID:2151 malignant ovarian surface epithelial-stromal neoplasm oboInOwl:hasDbXref NCI:C40026 semapv:UnspecifiedMatching -DOID:2151 malignant ovarian surface epithelial-stromal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518236 semapv:UnspecifiedMatching +DOID:2151 malignant ovarian surface epithelial-stromal neoplasm oboInOwl:hasDbXref UMLS:C1518236 semapv:UnspecifiedMatching DOID:2152 ovary epithelial cancer oboInOwl:hasDbXref NCI:C4381 semapv:UnspecifiedMatching -DOID:2152 ovary epithelial cancer oboInOwl:hasDbXref UMLS_CUI:C0341823 semapv:UnspecifiedMatching +DOID:2152 ovary epithelial cancer oboInOwl:hasDbXref UMLS:C0341823 semapv:UnspecifiedMatching DOID:2153 ovarian Wilms' cancer oboInOwl:hasDbXref NCI:C40443 semapv:UnspecifiedMatching -DOID:2153 ovarian Wilms' cancer oboInOwl:hasDbXref UMLS_CUI:C1518746 semapv:UnspecifiedMatching +DOID:2153 ovarian Wilms' cancer oboInOwl:hasDbXref UMLS:C1518746 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref ICDO:8960/3 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref MESH:D009396 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C27730 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C3267 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C6180 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref OMIM:194070 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C0027708 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C1332219 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C1333015 semapv:UnspecifiedMatching +DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS:C0027708 semapv:UnspecifiedMatching +DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS:C1332219 semapv:UnspecifiedMatching +DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS:C1333015 semapv:UnspecifiedMatching DOID:2154 nephroblastoma skos:exactMatch OMIM:194070 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref MESH:C562841 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref NCI:C4514 semapv:UnspecifiedMatching -DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346180 semapv:UnspecifiedMatching +DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref UMLS:C0346180 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref GARD:9330 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref NCI:C3873 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching -DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0238324 semapv:UnspecifiedMatching +DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref UMLS:C0238324 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer skos:exactMatch OMIM:603737 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref EFO:0003819 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref ICD10CM:K02 semapv:UnspecifiedMatching @@ -25466,100 +25774,100 @@ DOID:216 dental caries oboInOwl:hasDbXref ICD9CM:521.0 semapv:UnspecifiedMatchin DOID:216 dental caries oboInOwl:hasDbXref ICD9CM:521.07 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref MESH:D003731 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref NCI:C52593 semapv:UnspecifiedMatching -DOID:216 dental caries oboInOwl:hasDbXref UMLS_CUI:C0011334 semapv:UnspecifiedMatching -DOID:216 dental caries oboInOwl:hasDbXref UMLS_CUI:C1456145 semapv:UnspecifiedMatching +DOID:216 dental caries oboInOwl:hasDbXref UMLS:C0011334 semapv:UnspecifiedMatching +DOID:216 dental caries oboInOwl:hasDbXref UMLS:C1456145 semapv:UnspecifiedMatching DOID:2163 nasal cavity disease oboInOwl:hasDbXref NCI:C27102 semapv:UnspecifiedMatching -DOID:2163 nasal cavity disease oboInOwl:hasDbXref UMLS_CUI:C0339820 semapv:UnspecifiedMatching +DOID:2163 nasal cavity disease oboInOwl:hasDbXref UMLS:C0339820 semapv:UnspecifiedMatching DOID:217 enamel caries oboInOwl:hasDbXref ICD9CM:521.01 semapv:UnspecifiedMatching -DOID:217 enamel caries oboInOwl:hasDbXref UMLS_CUI:C0266853 semapv:UnspecifiedMatching +DOID:217 enamel caries oboInOwl:hasDbXref UMLS:C0266853 semapv:UnspecifiedMatching DOID:2170 vaginitis oboInOwl:hasDbXref ICD9CM:616.1 semapv:UnspecifiedMatching DOID:2170 vaginitis oboInOwl:hasDbXref MESH:D014627 semapv:UnspecifiedMatching DOID:2170 vaginitis oboInOwl:hasDbXref NCI:C26911 semapv:UnspecifiedMatching -DOID:2170 vaginitis oboInOwl:hasDbXref UMLS_CUI:C0042267 semapv:UnspecifiedMatching -DOID:2170 vaginitis oboInOwl:hasDbXref UMLS_CUI:C0042268 semapv:UnspecifiedMatching +DOID:2170 vaginitis oboInOwl:hasDbXref UMLS:C0042267 semapv:UnspecifiedMatching +DOID:2170 vaginitis oboInOwl:hasDbXref UMLS:C0042268 semapv:UnspecifiedMatching DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref MESH:D005142 semapv:UnspecifiedMatching DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref NCI:C3031 semapv:UnspecifiedMatching -DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0015424 semapv:UnspecifiedMatching +DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref UMLS:C0015424 semapv:UnspecifiedMatching DOID:2174 ocular cancer oboInOwl:hasDbXref ICD9CM:190.8 semapv:UnspecifiedMatching DOID:2174 ocular cancer oboInOwl:hasDbXref MESH:D005134 semapv:UnspecifiedMatching DOID:2174 ocular cancer oboInOwl:hasDbXref NCI:C3030 semapv:UnspecifiedMatching -DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS_CUI:C0015414 semapv:UnspecifiedMatching -DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS_CUI:C0153632 semapv:UnspecifiedMatching +DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS:C0015414 semapv:UnspecifiedMatching +DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS:C0153632 semapv:UnspecifiedMatching DOID:2176 carbuncle oboInOwl:hasDbXref ICD9CM:680.9 semapv:UnspecifiedMatching -DOID:2176 carbuncle oboInOwl:hasDbXref UMLS_CUI:C0007079 semapv:UnspecifiedMatching +DOID:2176 carbuncle oboInOwl:hasDbXref UMLS:C0007079 semapv:UnspecifiedMatching DOID:218 ascending colon cancer oboInOwl:hasDbXref ICD10CM:C18.2 semapv:UnspecifiedMatching DOID:218 ascending colon cancer oboInOwl:hasDbXref ICD9CM:153.6 semapv:UnspecifiedMatching -DOID:218 ascending colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153439 semapv:UnspecifiedMatching +DOID:218 ascending colon cancer oboInOwl:hasDbXref UMLS:C0153439 semapv:UnspecifiedMatching DOID:2181 post-surgical hypoinsulinemia oboInOwl:hasDbXref ICD10CM:E89.1 semapv:UnspecifiedMatching DOID:2181 post-surgical hypoinsulinemia oboInOwl:hasDbXref ICD9CM:251.3 semapv:UnspecifiedMatching -DOID:2181 post-surgical hypoinsulinemia oboInOwl:hasDbXref UMLS_CUI:C0154190 semapv:UnspecifiedMatching +DOID:2181 post-surgical hypoinsulinemia oboInOwl:hasDbXref UMLS:C0154190 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref GARD:5791 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref MESH:D000567 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref OMIMPS:104500 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref ORDO:88661 semapv:UnspecifiedMatching -DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref UMLS_CUI:C0002452 semapv:UnspecifiedMatching +DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0002452 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta skos:exactMatch OMIMPS:104500 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref ICD10CM:C18 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref ICD9CM:153 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref NCI:C9242 semapv:UnspecifiedMatching -DOID:219 colon cancer oboInOwl:hasDbXref UMLS_CUI:C0007102 semapv:UnspecifiedMatching +DOID:219 colon cancer oboInOwl:hasDbXref UMLS:C0007102 semapv:UnspecifiedMatching DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref ICD9CM:380.01 semapv:UnspecifiedMatching -DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref UMLS_CUI:C0155390 semapv:UnspecifiedMatching +DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref UMLS:C0155390 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref GARD:10766 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref MESH:D005177 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref NCI:C98941 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015530 semapv:UnspecifiedMatching +DOID:2211 factor XIII deficiency oboInOwl:hasDbXref UMLS:C0015530 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref ICD10CM:D69.9 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref ICD9CM:287.9 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref MESH:D006474 semapv:UnspecifiedMatching -DOID:2213 hemorrhagic disease oboInOwl:hasDbXref UMLS_CUI:C0019087 semapv:UnspecifiedMatching +DOID:2213 hemorrhagic disease oboInOwl:hasDbXref UMLS:C0019087 semapv:UnspecifiedMatching DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref MESH:D025861 semapv:UnspecifiedMatching DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref ORDO:98429 semapv:UnspecifiedMatching -DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref UMLS_CUI:C0852077 semapv:UnspecifiedMatching +DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref UMLS:C0852077 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref GARD:2238 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref ICD10CM:D68.2 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref MESH:D005168 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref NCI:C131631 semapv:UnspecifiedMatching -DOID:2215 factor VII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015503 semapv:UnspecifiedMatching +DOID:2215 factor VII deficiency oboInOwl:hasDbXref UMLS:C0015503 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref GARD:2237 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref ICD10CM:D68.2 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref MESH:D005166 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref NCI:C98938 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref OMIM:227400 semapv:UnspecifiedMatching -DOID:2216 factor V deficiency oboInOwl:hasDbXref UMLS_CUI:C0015499 semapv:UnspecifiedMatching +DOID:2216 factor V deficiency oboInOwl:hasDbXref UMLS:C0015499 semapv:UnspecifiedMatching DOID:2216 factor V deficiency skos:exactMatch OMIM:227400 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref MESH:D001606 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref NCI:C84595 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:231200 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref ORDO:274 semapv:UnspecifiedMatching -DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS_CUI:C0005129 semapv:UnspecifiedMatching +DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS:C0005129 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome skos:exactMatch OMIM:231200 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref MESH:D001791 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref NCI:C131634 semapv:UnspecifiedMatching -DOID:2218 blood platelet disease oboInOwl:hasDbXref UMLS_CUI:C0005818 semapv:UnspecifiedMatching +DOID:2218 blood platelet disease oboInOwl:hasDbXref UMLS:C0005818 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref GARD:2478 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref MESH:D013915 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref NCI:C61249 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref OMIM:273800 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ORDO:849 semapv:UnspecifiedMatching -DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref UMLS_CUI:C0040015 semapv:UnspecifiedMatching +DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref UMLS:C0040015 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia skos:exactMatch OMIM:273800 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD10CM:H61.0 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD9CM:380.00 semapv:UnspecifiedMatching -DOID:222 perichondritis of auricle oboInOwl:hasDbXref UMLS_CUI:C0155389 semapv:UnspecifiedMatching +DOID:222 perichondritis of auricle oboInOwl:hasDbXref UMLS:C0155389 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref GARD:6404 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref MESH:D005171 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref NCI:C131632 semapv:UnspecifiedMatching -DOID:2222 factor X deficiency oboInOwl:hasDbXref UMLS_CUI:C0015519 semapv:UnspecifiedMatching +DOID:2222 factor X deficiency oboInOwl:hasDbXref UMLS:C0015519 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref GARD:5034 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref MESH:D010981 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref OMIM:185050 semapv:UnspecifiedMatching -DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref UMLS_CUI:C0032197 semapv:UnspecifiedMatching +DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref UMLS:C0032197 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency skos:exactMatch OMIM:185050 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref GARD:6594 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ICD10CM:D47.3 semapv:UnspecifiedMatching @@ -25572,50 +25880,50 @@ DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 semapv:Unspec DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ORDO:3318 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ORDO:71493 semapv:UnspecifiedMatching -DOID:2224 essential thrombocythemia oboInOwl:hasDbXref UMLS_CUI:C0040028 semapv:UnspecifiedMatching +DOID:2224 essential thrombocythemia oboInOwl:hasDbXref UMLS:C0040028 semapv:UnspecifiedMatching DOID:2225 obsolete megakaryocytic tumor oboInOwl:hasDbXref NCI:C7066 semapv:UnspecifiedMatching -DOID:2225 obsolete megakaryocytic tumor oboInOwl:hasDbXref UMLS_CUI:C1334687 semapv:UnspecifiedMatching +DOID:2225 obsolete megakaryocytic tumor oboInOwl:hasDbXref UMLS:C1334687 semapv:UnspecifiedMatching DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref ICD10CM:D47.1 semapv:UnspecifiedMatching DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref ICDO:9960/3 semapv:UnspecifiedMatching DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref NCI:C4345 semapv:UnspecifiedMatching -DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref UMLS_CUI:C1292778 semapv:UnspecifiedMatching +DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref UMLS:C1292778 semapv:UnspecifiedMatching DOID:2228 thrombocytosis oboInOwl:hasDbXref ICD10CM:D75.83 semapv:UnspecifiedMatching DOID:2228 thrombocytosis oboInOwl:hasDbXref MESH:D013922 semapv:UnspecifiedMatching DOID:2228 thrombocytosis oboInOwl:hasDbXref NCI:C35530 semapv:UnspecifiedMatching -DOID:2228 thrombocytosis oboInOwl:hasDbXref UMLS_CUI:C0836924 semapv:UnspecifiedMatching +DOID:2228 thrombocytosis oboInOwl:hasDbXref UMLS:C0836924 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref GARD:9670 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref ICD10CM:D68.1 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref ICD9CM:286.2 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref MESH:D005173 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref NCI:C84705 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency oboInOwl:hasDbXref UMLS_CUI:C0015523 semapv:UnspecifiedMatching +DOID:2229 factor XI deficiency oboInOwl:hasDbXref UMLS:C0015523 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency skos:exactMatch OMIM:612416 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref ICD9CM:435.0 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref NCI:C34413 semapv:UnspecifiedMatching -DOID:223 basilar artery insufficiency oboInOwl:hasDbXref UMLS_CUI:C0004812 semapv:UnspecifiedMatching +DOID:223 basilar artery insufficiency oboInOwl:hasDbXref UMLS:C0004812 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref GARD:6558 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref MESH:D005175 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref NCI:C131740 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref ORDO:330 semapv:UnspecifiedMatching -DOID:2231 factor XII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015526 semapv:UnspecifiedMatching +DOID:2231 factor XII deficiency oboInOwl:hasDbXref UMLS:C0015526 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency skos:exactMatch OMIM:234000 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref MESH:D004828 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref NCI:C122812 semapv:UnspecifiedMatching -DOID:2234 focal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014547 semapv:UnspecifiedMatching +DOID:2234 focal epilepsy oboInOwl:hasDbXref UMLS:C0014547 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref MESH:C562724 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref NCI:C26799 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref OMIM:613679 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref ORDO:325 semapv:UnspecifiedMatching -DOID:2235 prothrombin deficiency oboInOwl:hasDbXref UMLS_CUI:C0272317 semapv:UnspecifiedMatching +DOID:2235 prothrombin deficiency oboInOwl:hasDbXref UMLS:C0272317 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency skos:exactMatch OMIM:613679 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref GARD:5761 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref MESH:D000347 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref NCI:C98130 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching -DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref UMLS_CUI:C0001733 semapv:UnspecifiedMatching +DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref UMLS:C0001733 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia skos:exactMatch OMIM:202400 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD10CM:K73.9 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:570 semapv:UnspecifiedMatching @@ -25623,52 +25931,52 @@ DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.4 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.41 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref MESH:D006521 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref NCI:C82978 semapv:UnspecifiedMatching -DOID:2237 hepatitis oboInOwl:hasDbXref UMLS_CUI:C0001308 semapv:UnspecifiedMatching -DOID:2237 hepatitis oboInOwl:hasDbXref UMLS_CUI:C0019189 semapv:UnspecifiedMatching -DOID:2237 hepatitis oboInOwl:hasDbXref UMLS_CUI:C0149519 semapv:UnspecifiedMatching +DOID:2237 hepatitis oboInOwl:hasDbXref UMLS:C0001308 semapv:UnspecifiedMatching +DOID:2237 hepatitis oboInOwl:hasDbXref UMLS:C0019189 semapv:UnspecifiedMatching +DOID:2237 hepatitis oboInOwl:hasDbXref UMLS:C0149519 semapv:UnspecifiedMatching DOID:2239 granulomatous hepatitis oboInOwl:hasDbXref NCI:C27015 semapv:UnspecifiedMatching -DOID:2239 granulomatous hepatitis oboInOwl:hasDbXref UMLS_CUI:C0235369 semapv:UnspecifiedMatching +DOID:2239 granulomatous hepatitis oboInOwl:hasDbXref UMLS:C0235369 semapv:UnspecifiedMatching DOID:224 transient cerebral ischemia oboInOwl:hasDbXref ICD10CM:G45.9 semapv:UnspecifiedMatching DOID:224 transient cerebral ischemia oboInOwl:hasDbXref MESH:D002546 semapv:UnspecifiedMatching DOID:224 transient cerebral ischemia oboInOwl:hasDbXref NCI:C50781 semapv:UnspecifiedMatching -DOID:224 transient cerebral ischemia oboInOwl:hasDbXref UMLS_CUI:C0007787 semapv:UnspecifiedMatching +DOID:224 transient cerebral ischemia oboInOwl:hasDbXref UMLS:C0007787 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref ICD10CM:M47 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref ICD9CM:721.9 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref MESH:D055009 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref OMIM:184300 semapv:UnspecifiedMatching -DOID:2247 spondylosis oboInOwl:hasDbXref UMLS_CUI:C0038019 semapv:UnspecifiedMatching +DOID:2247 spondylosis oboInOwl:hasDbXref UMLS:C0038019 semapv:UnspecifiedMatching DOID:2247 spondylosis skos:exactMatch OMIM:184300 semapv:UnspecifiedMatching DOID:225 syndrome oboInOwl:hasDbXref MESH:D013577 semapv:UnspecifiedMatching DOID:225 syndrome oboInOwl:hasDbXref NCI:C28193 semapv:UnspecifiedMatching -DOID:225 syndrome oboInOwl:hasDbXref UMLS_CUI:C0039082 semapv:UnspecifiedMatching +DOID:225 syndrome oboInOwl:hasDbXref UMLS:C0039082 semapv:UnspecifiedMatching DOID:2251 hypertrophic elongation of cervix oboInOwl:hasDbXref ICD10CM:N88.4 semapv:UnspecifiedMatching DOID:2251 hypertrophic elongation of cervix oboInOwl:hasDbXref ICD9CM:622.6 semapv:UnspecifiedMatching -DOID:2251 hypertrophic elongation of cervix oboInOwl:hasDbXref UMLS_CUI:C0020561 semapv:UnspecifiedMatching +DOID:2251 hypertrophic elongation of cervix oboInOwl:hasDbXref UMLS:C0020561 semapv:UnspecifiedMatching DOID:2253 cervix disease oboInOwl:hasDbXref MESH:D002577 semapv:UnspecifiedMatching DOID:2253 cervix disease oboInOwl:hasDbXref NCI:C40241 semapv:UnspecifiedMatching -DOID:2253 cervix disease oboInOwl:hasDbXref UMLS_CUI:C0007867 semapv:UnspecifiedMatching +DOID:2253 cervix disease oboInOwl:hasDbXref UMLS:C0007867 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref ICD10CM:Q78.9 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref ICD9CM:756.4 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref MESH:D010009 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref NCI:C34466 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref NCI:C84978 semapv:UnspecifiedMatching -DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref UMLS_CUI:C0008449 semapv:UnspecifiedMatching -DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref UMLS_CUI:C0029422 semapv:UnspecifiedMatching +DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref UMLS:C0008449 semapv:UnspecifiedMatching +DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref UMLS:C0029422 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref ICD10CM:M24.6 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref ICD9CM:718.5 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref MESH:D000844 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref NCI:C171941 semapv:UnspecifiedMatching -DOID:227 ankylosis oboInOwl:hasDbXref UMLS_CUI:C0003090 semapv:UnspecifiedMatching +DOID:227 ankylosis oboInOwl:hasDbXref UMLS:C0003090 semapv:UnspecifiedMatching DOID:227 ankylosis skos:exactMatch MESH:D000844 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref ICD10CM:B37.3 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref ICD9CM:112.1 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref MESH:D002181 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref NCI:C2914 semapv:UnspecifiedMatching -DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref UMLS_CUI:C0700345 semapv:UnspecifiedMatching +DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref UMLS:C0700345 semapv:UnspecifiedMatching DOID:2273 vulvovaginitis oboInOwl:hasDbXref ICD10CM:N76.0 semapv:UnspecifiedMatching DOID:2273 vulvovaginitis oboInOwl:hasDbXref MESH:D014848 semapv:UnspecifiedMatching DOID:2273 vulvovaginitis oboInOwl:hasDbXref NCI:C35131 semapv:UnspecifiedMatching -DOID:2273 vulvovaginitis oboInOwl:hasDbXref UMLS_CUI:C0042998 semapv:UnspecifiedMatching +DOID:2273 vulvovaginitis oboInOwl:hasDbXref UMLS:C0042998 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref ICD10CM:J02 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref ICD9CM:462 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref ICD9CM:472 semapv:UnspecifiedMatching @@ -25678,13 +25986,13 @@ DOID:2275 pharyngitis oboInOwl:hasDbXref MESH:D010612 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref NCI:C26850 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref NCI:C26851 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref NCI:C34355 semapv:UnspecifiedMatching -DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0001344 semapv:UnspecifiedMatching -DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0031345 semapv:UnspecifiedMatching -DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0031350 semapv:UnspecifiedMatching -DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0155824 semapv:UnspecifiedMatching +DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS:C0001344 semapv:UnspecifiedMatching +DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS:C0031345 semapv:UnspecifiedMatching +DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS:C0031350 semapv:UnspecifiedMatching +DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS:C0155824 semapv:UnspecifiedMatching DOID:2277 gonadal disease oboInOwl:hasDbXref MESH:D006058 semapv:UnspecifiedMatching DOID:2277 gonadal disease oboInOwl:hasDbXref NCI:C26786 semapv:UnspecifiedMatching -DOID:2277 gonadal disease oboInOwl:hasDbXref UMLS_CUI:C0018050 semapv:UnspecifiedMatching +DOID:2277 gonadal disease oboInOwl:hasDbXref UMLS:C0018050 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref GARD:6658 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref ICD10CM:L73.2 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref MESH:D017497 semapv:UnspecifiedMatching @@ -25692,19 +26000,19 @@ DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref NCI:C128429 semapv:Unspeci DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:142690 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613736 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613737 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref UMLS_CUI:C0162836 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref UMLS:C0162836 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref ICD9CM:705.83 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref MESH:D016575 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref NCI:C112190 semapv:UnspecifiedMatching -DOID:2282 hidradenitis oboInOwl:hasDbXref UMLS_CUI:C0085160 semapv:UnspecifiedMatching +DOID:2282 hidradenitis oboInOwl:hasDbXref UMLS:C0085160 semapv:UnspecifiedMatching DOID:2283 keratopathy oboInOwl:hasDbXref NCI:C27012 semapv:UnspecifiedMatching -DOID:2283 keratopathy oboInOwl:hasDbXref UMLS_CUI:C0235270 semapv:UnspecifiedMatching +DOID:2283 keratopathy oboInOwl:hasDbXref UMLS:C0235270 semapv:UnspecifiedMatching DOID:2286 capillary lymphangioma oboInOwl:hasDbXref ICDO:9171/0 semapv:UnspecifiedMatching DOID:2286 capillary lymphangioma oboInOwl:hasDbXref NCI:C27509 semapv:UnspecifiedMatching -DOID:2286 capillary lymphangioma oboInOwl:hasDbXref UMLS_CUI:C1333176 semapv:UnspecifiedMatching +DOID:2286 capillary lymphangioma oboInOwl:hasDbXref UMLS:C1333176 semapv:UnspecifiedMatching DOID:229 female reproductive system disease oboInOwl:hasDbXref ICD9CM:629.9 semapv:UnspecifiedMatching DOID:229 female reproductive system disease oboInOwl:hasDbXref MESH:D005831 semapv:UnspecifiedMatching -DOID:229 female reproductive system disease oboInOwl:hasDbXref UMLS_CUI:C0017411 semapv:UnspecifiedMatching +DOID:229 female reproductive system disease oboInOwl:hasDbXref UMLS:C0017411 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref GARD:7881 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref ICD10CM:A27 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref ICD10CM:A27.0 semapv:UnspecifiedMatching @@ -25713,65 +26021,65 @@ DOID:2297 leptospirosis oboInOwl:hasDbXref ICD9CM:100.0 semapv:UnspecifiedMatchi DOID:2297 leptospirosis oboInOwl:hasDbXref MESH:D007922 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref MESH:D014895 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref NCI:C84825 semapv:UnspecifiedMatching -DOID:2297 leptospirosis oboInOwl:hasDbXref UMLS_CUI:C0023364 semapv:UnspecifiedMatching -DOID:2297 leptospirosis oboInOwl:hasDbXref UMLS_CUI:C0043102 semapv:UnspecifiedMatching +DOID:2297 leptospirosis oboInOwl:hasDbXref UMLS:C0023364 semapv:UnspecifiedMatching +DOID:2297 leptospirosis oboInOwl:hasDbXref UMLS:C0043102 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ICD10CM:G12.23 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ICD9CM:335.24 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref NCI:C129933 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ORDO:35689 semapv:UnspecifiedMatching -DOID:230 lateral sclerosis oboInOwl:hasDbXref UMLS_CUI:C0154682 semapv:UnspecifiedMatching +DOID:230 lateral sclerosis oboInOwl:hasDbXref UMLS:C0154682 semapv:UnspecifiedMatching DOID:230 lateral sclerosis skos:exactMatch OMIM:611637 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref ICD10CM:M43.0 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref MESH:D013169 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref NCI:C35034 semapv:UnspecifiedMatching -DOID:2300 spondylolysis oboInOwl:hasDbXref UMLS_CUI:C0038018 semapv:UnspecifiedMatching +DOID:2300 spondylolysis oboInOwl:hasDbXref UMLS:C0038018 semapv:UnspecifiedMatching DOID:2301 atrophy of prostate oboInOwl:hasDbXref ICD9CM:602.2 semapv:UnspecifiedMatching -DOID:2301 atrophy of prostate oboInOwl:hasDbXref UMLS_CUI:C0156296 semapv:UnspecifiedMatching +DOID:2301 atrophy of prostate oboInOwl:hasDbXref UMLS:C0156296 semapv:UnspecifiedMatching DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref ICD10CM:F98.4 semapv:UnspecifiedMatching DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref ICD9CM:307.3 semapv:UnspecifiedMatching DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref MESH:D019956 semapv:UnspecifiedMatching -DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref UMLS_CUI:C0038273 semapv:UnspecifiedMatching +DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref UMLS:C0038273 semapv:UnspecifiedMatching DOID:231 motor neuron disease oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching DOID:231 motor neuron disease oboInOwl:hasDbXref ICD9CM:335.2 semapv:UnspecifiedMatching DOID:231 motor neuron disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching -DOID:231 motor neuron disease oboInOwl:hasDbXref UMLS_CUI:C0085084 semapv:UnspecifiedMatching +DOID:231 motor neuron disease oboInOwl:hasDbXref UMLS:C0085084 semapv:UnspecifiedMatching DOID:2312 nocardiosis oboInOwl:hasDbXref GARD:7210 semapv:UnspecifiedMatching DOID:2312 nocardiosis oboInOwl:hasDbXref ICD10CM:A43 semapv:UnspecifiedMatching DOID:2312 nocardiosis oboInOwl:hasDbXref MESH:D009617 semapv:UnspecifiedMatching DOID:2312 nocardiosis oboInOwl:hasDbXref NCI:C171147 semapv:UnspecifiedMatching -DOID:2312 nocardiosis oboInOwl:hasDbXref UMLS_CUI:C0028242 semapv:UnspecifiedMatching +DOID:2312 nocardiosis oboInOwl:hasDbXref UMLS:C0028242 semapv:UnspecifiedMatching DOID:2314 malt worker's lung oboInOwl:hasDbXref ICD10CM:J67.4 semapv:UnspecifiedMatching DOID:2314 malt worker's lung oboInOwl:hasDbXref ICD9CM:495.4 semapv:UnspecifiedMatching -DOID:2314 malt worker's lung oboInOwl:hasDbXref UMLS_CUI:C0155888 semapv:UnspecifiedMatching +DOID:2314 malt worker's lung oboInOwl:hasDbXref UMLS:C0155888 semapv:UnspecifiedMatching DOID:2316 brain ischemia oboInOwl:hasDbXref MESH:D002545 semapv:UnspecifiedMatching -DOID:2316 brain ischemia oboInOwl:hasDbXref UMLS_CUI:C0007786 semapv:UnspecifiedMatching +DOID:2316 brain ischemia oboInOwl:hasDbXref UMLS:C0007786 semapv:UnspecifiedMatching DOID:2320 obstructive lung disease oboInOwl:hasDbXref MESH:D008173 semapv:UnspecifiedMatching -DOID:2320 obstructive lung disease oboInOwl:hasDbXref UMLS_CUI:C0600260 semapv:UnspecifiedMatching +DOID:2320 obstructive lung disease oboInOwl:hasDbXref UMLS:C0600260 semapv:UnspecifiedMatching DOID:2326 gastroenteritis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:2326 gastroenteritis oboInOwl:hasDbXref MESH:D005759 semapv:UnspecifiedMatching DOID:2326 gastroenteritis oboInOwl:hasDbXref NCI:C34632 semapv:UnspecifiedMatching -DOID:2326 gastroenteritis oboInOwl:hasDbXref UMLS_CUI:C0017160 semapv:UnspecifiedMatching +DOID:2326 gastroenteritis oboInOwl:hasDbXref UMLS:C0017160 semapv:UnspecifiedMatching DOID:2326 gastroenteritis skos:exactMatch MESH:D005759 semapv:UnspecifiedMatching DOID:2327 viral gastritis oboInOwl:hasDbXref NCI:C27184 semapv:UnspecifiedMatching -DOID:2327 viral gastritis oboInOwl:hasDbXref UMLS_CUI:C0563238 semapv:UnspecifiedMatching +DOID:2327 viral gastritis oboInOwl:hasDbXref UMLS:C0563238 semapv:UnspecifiedMatching DOID:2338 mandibular cancer oboInOwl:hasDbXref ICD10CM:C41.1 semapv:UnspecifiedMatching DOID:2338 mandibular cancer oboInOwl:hasDbXref ICD9CM:170.1 semapv:UnspecifiedMatching DOID:2338 mandibular cancer oboInOwl:hasDbXref MESH:D008339 semapv:UnspecifiedMatching DOID:2338 mandibular cancer oboInOwl:hasDbXref NCI:C35178 semapv:UnspecifiedMatching -DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS_CUI:C0024694 semapv:UnspecifiedMatching -DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS_CUI:C0153511 semapv:UnspecifiedMatching +DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS:C0024694 semapv:UnspecifiedMatching +DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS:C0153511 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref GARD:6206 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref ICD10CM:Q75.1 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref MESH:D003394 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref NCI:C84653 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref OMIM:123500 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome oboInOwl:hasDbXref UMLS_CUI:C0010273 semapv:UnspecifiedMatching +DOID:2339 Crouzon syndrome oboInOwl:hasDbXref UMLS:C0010273 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome skos:exactMatch OMIM:123500 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref NCI:C4349 semapv:UnspecifiedMatching -DOID:234 colon adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0338106 semapv:UnspecifiedMatching +DOID:234 colon adenocarcinoma oboInOwl:hasDbXref UMLS:C0338106 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref GARD:6209 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref ICD10CM:Q75.0 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref MESH:D003398 semapv:UnspecifiedMatching @@ -25783,78 +26091,78 @@ DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatc DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:604757 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref ORDO:1531 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref UMLS_CUI:C0010278 semapv:UnspecifiedMatching +DOID:2340 craniosynostosis oboInOwl:hasDbXref UMLS:C0010278 semapv:UnspecifiedMatching DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref ICD10CM:D89.0 semapv:UnspecifiedMatching DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref ICD9CM:273.0 semapv:UnspecifiedMatching DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref NCI:C35885 semapv:UnspecifiedMatching -DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0154254 semapv:UnspecifiedMatching +DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref UMLS:C0154254 semapv:UnspecifiedMatching DOID:2345 plasma protein metabolism disease oboInOwl:hasDbXref ICD9CM:273.8 semapv:UnspecifiedMatching -DOID:2345 plasma protein metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0029594 semapv:UnspecifiedMatching +DOID:2345 plasma protein metabolism disease oboInOwl:hasDbXref UMLS:C0029594 semapv:UnspecifiedMatching DOID:2346 monoclonal paraproteinemia oboInOwl:hasDbXref ICD9CM:273.1 semapv:UnspecifiedMatching -DOID:2346 monoclonal paraproteinemia oboInOwl:hasDbXref UMLS_CUI:C0026471 semapv:UnspecifiedMatching +DOID:2346 monoclonal paraproteinemia oboInOwl:hasDbXref UMLS:C0026471 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref ICD10CM:I70.91 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref ICD9CM:440.9 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref NCI:C35767 semapv:UnspecifiedMatching -DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0017327 semapv:UnspecifiedMatching +DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref UMLS:C0017327 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref ICD9CM:440 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref MESH:D050197 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref NCI:C34403 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref NCI:C35768 semapv:UnspecifiedMatching -DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS_CUI:C0004153 semapv:UnspecifiedMatching -DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS_CUI:C3665365 semapv:UnspecifiedMatching +DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS:C0004153 semapv:UnspecifiedMatching +DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS:C3665365 semapv:UnspecifiedMatching DOID:2349 arteriosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:2349 arteriosclerosis oboInOwl:hasDbXref MESH:D001161 semapv:UnspecifiedMatching DOID:2349 arteriosclerosis oboInOwl:hasDbXref NCI:C34398 semapv:UnspecifiedMatching -DOID:2349 arteriosclerosis oboInOwl:hasDbXref UMLS_CUI:C0003850 semapv:UnspecifiedMatching +DOID:2349 arteriosclerosis oboInOwl:hasDbXref UMLS:C0003850 semapv:UnspecifiedMatching DOID:235 colonic benign neoplasm oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching DOID:235 colonic benign neoplasm oboInOwl:hasDbXref NCI:C2953 semapv:UnspecifiedMatching -DOID:235 colonic benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0009375 semapv:UnspecifiedMatching +DOID:235 colonic benign neoplasm oboInOwl:hasDbXref UMLS:C0009375 semapv:UnspecifiedMatching DOID:2351 iron metabolism disease oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:2351 iron metabolism disease oboInOwl:hasDbXref ICD9CM:275.0 semapv:UnspecifiedMatching DOID:2351 iron metabolism disease oboInOwl:hasDbXref MESH:D019189 semapv:UnspecifiedMatching -DOID:2351 iron metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0012715 semapv:UnspecifiedMatching +DOID:2351 iron metabolism disease oboInOwl:hasDbXref UMLS:C0012715 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref ICD10CM:E83.11 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref MESH:D006432 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref NCI:C82892 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIMPS:235200 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref ORDO:139498 semapv:UnspecifiedMatching -DOID:2352 hemochromatosis oboInOwl:hasDbXref UMLS_CUI:C0018995 semapv:UnspecifiedMatching +DOID:2352 hemochromatosis oboInOwl:hasDbXref UMLS:C0018995 semapv:UnspecifiedMatching DOID:2354 myelophthisic anemia oboInOwl:hasDbXref ICD10CM:D61.82 semapv:UnspecifiedMatching DOID:2354 myelophthisic anemia oboInOwl:hasDbXref MESH:D000750 semapv:UnspecifiedMatching -DOID:2354 myelophthisic anemia oboInOwl:hasDbXref UMLS_CUI:C0002890 semapv:UnspecifiedMatching +DOID:2354 myelophthisic anemia oboInOwl:hasDbXref UMLS:C0002890 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref EFO:0004272 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref ICD10CM:D64.9 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref ICD9CM:285.9 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref MESH:D000740 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref NCI:C2869 semapv:UnspecifiedMatching -DOID:2355 anemia oboInOwl:hasDbXref UMLS_CUI:C0002871 semapv:UnspecifiedMatching +DOID:2355 anemia oboInOwl:hasDbXref UMLS:C0002871 semapv:UnspecifiedMatching DOID:2355 anemia skos:exactMatch MESH:D000740 semapv:UnspecifiedMatching DOID:2361 macrocytic anemia oboInOwl:hasDbXref MESH:D000748 semapv:UnspecifiedMatching DOID:2361 macrocytic anemia oboInOwl:hasDbXref NCI:C34381 semapv:UnspecifiedMatching -DOID:2361 macrocytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002886 semapv:UnspecifiedMatching +DOID:2361 macrocytic anemia oboInOwl:hasDbXref UMLS:C0002886 semapv:UnspecifiedMatching DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref ICD10CM:I87.0 semapv:UnspecifiedMatching DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref ICD9CM:459.1 semapv:UnspecifiedMatching DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref MESH:D011186 semapv:UnspecifiedMatching -DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref UMLS_CUI:C0032807 semapv:UnspecifiedMatching +DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref UMLS:C0032807 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref GARD:9959 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref ICD10CM:A92.31 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref ICD9CM:066.41 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching -DOID:2365 West Nile encephalitis oboInOwl:hasDbXref UMLS_CUI:C0751583 semapv:UnspecifiedMatching +DOID:2365 West Nile encephalitis oboInOwl:hasDbXref UMLS:C0751583 semapv:UnspecifiedMatching DOID:2366 West Nile fever oboInOwl:hasDbXref ICD10CM:A92.3 semapv:UnspecifiedMatching DOID:2366 West Nile fever oboInOwl:hasDbXref ICD9CM:066.4 semapv:UnspecifiedMatching DOID:2366 West Nile fever oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching -DOID:2366 West Nile fever oboInOwl:hasDbXref UMLS_CUI:C0043124 semapv:UnspecifiedMatching +DOID:2366 West Nile fever oboInOwl:hasDbXref UMLS:C0043124 semapv:UnspecifiedMatching DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref MESH:D019150 semapv:UnspecifiedMatching DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref NCI:C161542 semapv:UnspecifiedMatching -DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0338473 semapv:UnspecifiedMatching +DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref UMLS:C0338473 semapv:UnspecifiedMatching DOID:2368 gangliosidosis oboInOwl:hasDbXref GARD:12510 semapv:UnspecifiedMatching DOID:2368 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.10 semapv:UnspecifiedMatching DOID:2368 gangliosidosis oboInOwl:hasDbXref MESH:D005733 semapv:UnspecifiedMatching DOID:2368 gangliosidosis oboInOwl:hasDbXref ORDO:309144 semapv:UnspecifiedMatching -DOID:2368 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0017083 semapv:UnspecifiedMatching +DOID:2368 gangliosidosis oboInOwl:hasDbXref UMLS:C0017083 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref GARD:6621 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD10CM:D58.1 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD9CM:282.1 semapv:UnspecifiedMatching @@ -25863,7 +26171,7 @@ DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref NCI:C35882 semapv:Unspeci DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref OMIM:130600 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref OMIM:611804 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ORDO:288 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref UMLS_CUI:C0013902 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref UMLS:C0013902 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref EFO:0003885 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref GARD:10255 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD10CM:G35 semapv:UnspecifiedMatching @@ -25873,31 +26181,31 @@ DOID:2377 multiple sclerosis oboInOwl:hasDbXref NCI:C3243 semapv:UnspecifiedMatc DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612594 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612595 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612596 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0026769 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref UMLS:C0026769 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis skos:exactMatch MESH:D009103 semapv:UnspecifiedMatching DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref EFO:0003929 semapv:UnspecifiedMatching DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref MESH:D020529 semapv:UnspecifiedMatching DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref NCI:C165675 semapv:UnspecifiedMatching -DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0751967 semapv:UnspecifiedMatching +DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref UMLS:C0751967 semapv:UnspecifiedMatching DOID:238 pupil disease oboInOwl:hasDbXref MESH:D011681 semapv:UnspecifiedMatching -DOID:238 pupil disease oboInOwl:hasDbXref UMLS_CUI:C0034124 semapv:UnspecifiedMatching +DOID:238 pupil disease oboInOwl:hasDbXref UMLS:C0034124 semapv:UnspecifiedMatching DOID:2382 kernicterus oboInOwl:hasDbXref GARD:6830 semapv:UnspecifiedMatching DOID:2382 kernicterus oboInOwl:hasDbXref ICD10CM:P57 semapv:UnspecifiedMatching DOID:2382 kernicterus oboInOwl:hasDbXref MESH:D007647 semapv:UnspecifiedMatching DOID:2382 kernicterus oboInOwl:hasDbXref NCI:C84799 semapv:UnspecifiedMatching -DOID:2382 kernicterus oboInOwl:hasDbXref UMLS_CUI:C0022610 semapv:UnspecifiedMatching +DOID:2382 kernicterus oboInOwl:hasDbXref UMLS:C0022610 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref ICD10CM:P59.9 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref MESH:D007567 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref NCI:C99246 semapv:UnspecifiedMatching -DOID:2383 neonatal jaundice oboInOwl:hasDbXref UMLS_CUI:C0022353 semapv:UnspecifiedMatching +DOID:2383 neonatal jaundice oboInOwl:hasDbXref UMLS:C0022353 semapv:UnspecifiedMatching DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref ICD10CM:E51.2 semapv:UnspecifiedMatching DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref MESH:D014899 semapv:UnspecifiedMatching -DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0043121 semapv:UnspecifiedMatching +DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref UMLS:C0043121 semapv:UnspecifiedMatching DOID:2388 renal artery disease oboInOwl:hasDbXref ICD9CM:593.81 semapv:UnspecifiedMatching DOID:2388 renal artery disease oboInOwl:hasDbXref NCI:C35338 semapv:UnspecifiedMatching -DOID:2388 renal artery disease oboInOwl:hasDbXref UMLS_CUI:C0268790 semapv:UnspecifiedMatching +DOID:2388 renal artery disease oboInOwl:hasDbXref UMLS:C0268790 semapv:UnspecifiedMatching DOID:2392 glandular cystitis oboInOwl:hasDbXref NCI:C39860 semapv:UnspecifiedMatching -DOID:2392 glandular cystitis oboInOwl:hasDbXref UMLS_CUI:C0268837 semapv:UnspecifiedMatching +DOID:2392 glandular cystitis oboInOwl:hasDbXref UMLS:C0268837 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref GARD:7295 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ICD10CM:C56 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ICD9CM:183.0 semapv:UnspecifiedMatching @@ -25908,156 +26216,159 @@ DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:167000 semapv:UnspecifiedMatchi DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:607893 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ORDO:213500 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ORDO:213517 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C0919267 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C1140680 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C1299247 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS:C0919267 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS:C1140680 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS:C1299247 semapv:UnspecifiedMatching DOID:240 iris disease oboInOwl:hasDbXref MESH:D007499 semapv:UnspecifiedMatching DOID:240 iris disease oboInOwl:hasDbXref NCI:C34737 semapv:UnspecifiedMatching -DOID:240 iris disease oboInOwl:hasDbXref UMLS_CUI:C0022078 semapv:UnspecifiedMatching +DOID:240 iris disease oboInOwl:hasDbXref UMLS:C0022078 semapv:UnspecifiedMatching DOID:2401 clitoris cancer oboInOwl:hasDbXref ICD10CM:C51.2 semapv:UnspecifiedMatching DOID:2401 clitoris cancer oboInOwl:hasDbXref ICD9CM:184.3 semapv:UnspecifiedMatching DOID:2401 clitoris cancer oboInOwl:hasDbXref NCI:C3557 semapv:UnspecifiedMatching DOID:2401 clitoris cancer oboInOwl:hasDbXref NCI:C9362 semapv:UnspecifiedMatching -DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS_CUI:C0153589 semapv:UnspecifiedMatching -DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS_CUI:C1333070 semapv:UnspecifiedMatching +DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS:C0153589 semapv:UnspecifiedMatching +DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS:C1333070 semapv:UnspecifiedMatching DOID:2409 rhinosporidiosis oboInOwl:hasDbXref ICD10CM:B48.1 semapv:UnspecifiedMatching DOID:2409 rhinosporidiosis oboInOwl:hasDbXref ICD9CM:117.0 semapv:UnspecifiedMatching DOID:2409 rhinosporidiosis oboInOwl:hasDbXref MESH:D012227 semapv:UnspecifiedMatching -DOID:2409 rhinosporidiosis oboInOwl:hasDbXref UMLS_CUI:C0035469 semapv:UnspecifiedMatching +DOID:2409 rhinosporidiosis oboInOwl:hasDbXref UMLS:C0035469 semapv:UnspecifiedMatching DOID:2410 skin granular cell tumor oboInOwl:hasDbXref NCI:C5617 semapv:UnspecifiedMatching -DOID:2410 skin granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C0346060 semapv:UnspecifiedMatching +DOID:2410 skin granular cell tumor oboInOwl:hasDbXref UMLS:C0346060 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref GARD:9618 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref ICDO:9580/0 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref MESH:D016586 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref NCI:C3474 semapv:UnspecifiedMatching -DOID:2411 granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C0085167 semapv:UnspecifiedMatching +DOID:2411 granular cell tumor oboInOwl:hasDbXref UMLS:C0085167 semapv:UnspecifiedMatching DOID:2425 cutaneous ganglioneuroma oboInOwl:hasDbXref NCI:C4481 semapv:UnspecifiedMatching -DOID:2425 cutaneous ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C0346063 semapv:UnspecifiedMatching +DOID:2425 cutaneous ganglioneuroma oboInOwl:hasDbXref UMLS:C0346063 semapv:UnspecifiedMatching DOID:2426 gangliocytoma oboInOwl:hasDbXref GARD:10638 semapv:UnspecifiedMatching DOID:2426 gangliocytoma oboInOwl:hasDbXref ICDO:9492/0 semapv:UnspecifiedMatching DOID:2426 gangliocytoma oboInOwl:hasDbXref MESH:D005729 semapv:UnspecifiedMatching DOID:2426 gangliocytoma oboInOwl:hasDbXref NCI:C6934 semapv:UnspecifiedMatching DOID:2430 skin glomus tumor oboInOwl:hasDbXref NCI:C4491 semapv:UnspecifiedMatching -DOID:2430 skin glomus tumor oboInOwl:hasDbXref UMLS_CUI:C0346083 semapv:UnspecifiedMatching +DOID:2430 skin glomus tumor oboInOwl:hasDbXref UMLS:C0346083 semapv:UnspecifiedMatching DOID:2431 glomus tumor oboInOwl:hasDbXref ICDO:8711/0 semapv:UnspecifiedMatching DOID:2431 glomus tumor oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching DOID:2431 glomus tumor oboInOwl:hasDbXref NCI:C3060 semapv:UnspecifiedMatching -DOID:2431 glomus tumor oboInOwl:hasDbXref UMLS_CUI:C0017653 semapv:UnspecifiedMatching +DOID:2431 glomus tumor oboInOwl:hasDbXref UMLS:C0017653 semapv:UnspecifiedMatching DOID:2433 epidermal appendage tumor oboInOwl:hasDbXref NCI:C4463 semapv:UnspecifiedMatching -DOID:2433 epidermal appendage tumor oboInOwl:hasDbXref UMLS_CUI:C0345988 semapv:UnspecifiedMatching +DOID:2433 epidermal appendage tumor oboInOwl:hasDbXref UMLS:C0345988 semapv:UnspecifiedMatching DOID:2435 skin glomangioma oboInOwl:hasDbXref NCI:C6750 semapv:UnspecifiedMatching -DOID:2435 skin glomangioma oboInOwl:hasDbXref UMLS_CUI:C1275226 semapv:UnspecifiedMatching +DOID:2435 skin glomangioma oboInOwl:hasDbXref UMLS:C1275226 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref ICDO:8712/0 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref NCI:C4222 semapv:UnspecifiedMatching -DOID:2436 glomangioma oboInOwl:hasDbXref UMLS_CUI:C0334421 semapv:UnspecifiedMatching +DOID:2436 glomangioma oboInOwl:hasDbXref OMIM:138000 semapv:UnspecifiedMatching +DOID:2436 glomangioma oboInOwl:hasDbXref ORDO:83454 semapv:UnspecifiedMatching +DOID:2436 glomangioma oboInOwl:hasDbXref UMLS:C0334421 semapv:UnspecifiedMatching +DOID:2436 glomangioma skos:exactMatch OMIM:138000 semapv:UnspecifiedMatching DOID:2438 dermis tumor oboInOwl:hasDbXref NCI:C4475 semapv:UnspecifiedMatching -DOID:2438 dermis tumor oboInOwl:hasDbXref UMLS_CUI:C0346041 semapv:UnspecifiedMatching +DOID:2438 dermis tumor oboInOwl:hasDbXref UMLS:C0346041 semapv:UnspecifiedMatching DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6067 semapv:UnspecifiedMatching -DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333646 semapv:UnspecifiedMatching +DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333646 semapv:UnspecifiedMatching DOID:2444 hyperpituitarism oboInOwl:hasDbXref MESH:D006964 semapv:UnspecifiedMatching -DOID:2444 hyperpituitarism oboInOwl:hasDbXref UMLS_CUI:C0020506 semapv:UnspecifiedMatching +DOID:2444 hyperpituitarism oboInOwl:hasDbXref UMLS:C0020506 semapv:UnspecifiedMatching DOID:2444 hyperpituitarism skos:exactMatch MESH:D006964 semapv:UnspecifiedMatching DOID:2449 acromegaly oboInOwl:hasDbXref GARD:5725 semapv:UnspecifiedMatching DOID:2449 acromegaly oboInOwl:hasDbXref MESH:D000172 semapv:UnspecifiedMatching DOID:2449 acromegaly oboInOwl:hasDbXref NCI:C84533 semapv:UnspecifiedMatching -DOID:2449 acromegaly oboInOwl:hasDbXref UMLS_CUI:C0001206 semapv:UnspecifiedMatching +DOID:2449 acromegaly oboInOwl:hasDbXref UMLS:C0001206 semapv:UnspecifiedMatching DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref ICD10CM:H34.81 semapv:UnspecifiedMatching DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref ICD9CM:362.35 semapv:UnspecifiedMatching DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref MESH:D012170 semapv:UnspecifiedMatching DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref NCI:C118859 semapv:UnspecifiedMatching -DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0154841 semapv:UnspecifiedMatching +DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref UMLS:C0154841 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref GARD:4524 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref MESH:D018455 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref NCI:C99026 semapv:UnspecifiedMatching -DOID:2451 protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C0242666 semapv:UnspecifiedMatching +DOID:2451 protein S deficiency oboInOwl:hasDbXref UMLS:C0242666 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref MESH:D019851 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref NCI:C84479 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref OMIMPS:188050 semapv:UnspecifiedMatching -DOID:2452 thrombophilia oboInOwl:hasDbXref UMLS_CUI:C0398623 semapv:UnspecifiedMatching +DOID:2452 thrombophilia oboInOwl:hasDbXref UMLS:C0398623 semapv:UnspecifiedMatching DOID:2452 thrombophilia skos:exactMatch MESH:D019851 semapv:UnspecifiedMatching DOID:2452 thrombophilia skos:exactMatch OMIMPS:188050 semapv:UnspecifiedMatching DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref ICD10CM:H10.52 semapv:UnspecifiedMatching DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref ICD9CM:372.21 semapv:UnspecifiedMatching -DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155149 semapv:UnspecifiedMatching +DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref UMLS:C0155149 semapv:UnspecifiedMatching DOID:2456 blepharoconjunctivitis oboInOwl:hasDbXref ICD10CM:H10.5 semapv:UnspecifiedMatching DOID:2456 blepharoconjunctivitis oboInOwl:hasDbXref ICD9CM:372.2 semapv:UnspecifiedMatching DOID:2456 blepharoconjunctivitis oboInOwl:hasDbXref NCI:C34430 semapv:UnspecifiedMatching -DOID:2456 blepharoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0005743 semapv:UnspecifiedMatching +DOID:2456 blepharoconjunctivitis oboInOwl:hasDbXref UMLS:C0005743 semapv:UnspecifiedMatching DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref GARD:8445 semapv:UnspecifiedMatching DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref MESH:D003233 semapv:UnspecifiedMatching DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref NCI:C34507 semapv:UnspecifiedMatching -DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009769 semapv:UnspecifiedMatching +DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref UMLS:C0009769 semapv:UnspecifiedMatching DOID:2458 papillary conjunctivitis oboInOwl:hasDbXref NCI:C35616 semapv:UnspecifiedMatching -DOID:2458 papillary conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0854165 semapv:UnspecifiedMatching +DOID:2458 papillary conjunctivitis oboInOwl:hasDbXref UMLS:C0854165 semapv:UnspecifiedMatching DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref ICD10CM:H27.12 semapv:UnspecifiedMatching DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref ICD9CM:379.33 semapv:UnspecifiedMatching -DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref UMLS_CUI:C0155372 semapv:UnspecifiedMatching +DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref UMLS:C0155372 semapv:UnspecifiedMatching DOID:2462 retinal vascular disease oboInOwl:hasDbXref NCI:C35170 semapv:UnspecifiedMatching -DOID:2462 retinal vascular disease oboInOwl:hasDbXref UMLS_CUI:C0154833 semapv:UnspecifiedMatching +DOID:2462 retinal vascular disease oboInOwl:hasDbXref UMLS:C0154833 semapv:UnspecifiedMatching DOID:2468 psychotic disorder oboInOwl:hasDbXref EFO:0000677 semapv:UnspecifiedMatching DOID:2468 psychotic disorder oboInOwl:hasDbXref ICD9CM:298.8 semapv:UnspecifiedMatching -DOID:2468 psychotic disorder oboInOwl:hasDbXref UMLS_CUI:C0029516 semapv:UnspecifiedMatching +DOID:2468 psychotic disorder oboInOwl:hasDbXref UMLS:C0029516 semapv:UnspecifiedMatching DOID:2473 opportunistic mycosis oboInOwl:hasDbXref ICD9CM:118 semapv:UnspecifiedMatching -DOID:2473 opportunistic mycosis oboInOwl:hasDbXref UMLS_CUI:C0029119 semapv:UnspecifiedMatching +DOID:2473 opportunistic mycosis oboInOwl:hasDbXref UMLS:C0029119 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref GARD:7854 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.44 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref ICD9CM:372.13 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref MESH:D003233 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref NCI:C34508 semapv:UnspecifiedMatching -DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009773 semapv:UnspecifiedMatching +DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref UMLS:C0009773 semapv:UnspecifiedMatching DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.4 semapv:UnspecifiedMatching DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref ICD9CM:372.1 semapv:UnspecifiedMatching DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref NCI:C35197 semapv:UnspecifiedMatching -DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155145 semapv:UnspecifiedMatching +DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref UMLS:C0155145 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref GARD:6637 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD9CM:334.1 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref MESH:D015419 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref NCI:C140267 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref OMIMPS:303350 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref UMLS_CUI:C0037773 semapv:UnspecifiedMatching +DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0037773 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia skos:exactMatch OMIMPS:303350 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref MESH:D015417 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref NCI:C75467 semapv:UnspecifiedMatching -DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0027888 semapv:UnspecifiedMatching +DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref UMLS:C0027888 semapv:UnspecifiedMatching DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref ICD10CM:H81.4 semapv:UnspecifiedMatching DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref ICD9CM:386.2 semapv:UnspecifiedMatching DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref MESH:D014717 semapv:UnspecifiedMatching -DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref UMLS_CUI:C0155503 semapv:UnspecifiedMatching +DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref UMLS:C0155503 semapv:UnspecifiedMatching DOID:248 trachea leiomyoma oboInOwl:hasDbXref MESH:D014134 semapv:UnspecifiedMatching DOID:248 trachea leiomyoma oboInOwl:hasDbXref NCI:C3419 semapv:UnspecifiedMatching DOID:248 trachea leiomyoma oboInOwl:hasDbXref NCI:C6049 semapv:UnspecifiedMatching -DOID:248 trachea leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0040582 semapv:UnspecifiedMatching -DOID:248 trachea leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336772 semapv:UnspecifiedMatching +DOID:248 trachea leiomyoma oboInOwl:hasDbXref UMLS:C0040582 semapv:UnspecifiedMatching +DOID:248 trachea leiomyoma oboInOwl:hasDbXref UMLS:C1336772 semapv:UnspecifiedMatching DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref ICD9CM:275.3 semapv:UnspecifiedMatching DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref MESH:D010760 semapv:UnspecifiedMatching DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref NCI:C97095 semapv:UnspecifiedMatching -DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0031707 semapv:UnspecifiedMatching +DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref UMLS:C0031707 semapv:UnspecifiedMatching DOID:2490 congenital nervous system abnormality oboInOwl:hasDbXref ICD9CM:742 semapv:UnspecifiedMatching -DOID:2490 congenital nervous system abnormality oboInOwl:hasDbXref UMLS_CUI:C0158538 semapv:UnspecifiedMatching +DOID:2490 congenital nervous system abnormality oboInOwl:hasDbXref UMLS:C0158538 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref ICD9CM:356.2 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref NCI:C3501 semapv:UnspecifiedMatching -DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0151313 semapv:UnspecifiedMatching -DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0699739 semapv:UnspecifiedMatching +DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS:C0151313 semapv:UnspecifiedMatching +DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS:C0699739 semapv:UnspecifiedMatching DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref MESH:D020252 semapv:UnspecifiedMatching DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref NCI:C84724 semapv:UnspecifiedMatching -DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref UMLS_CUI:C0267211 semapv:UnspecifiedMatching +DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref UMLS:C0267211 semapv:UnspecifiedMatching DOID:2494 angiodysplasia oboInOwl:hasDbXref MESH:D016888 semapv:UnspecifiedMatching -DOID:2494 angiodysplasia oboInOwl:hasDbXref UMLS_CUI:C0085411 semapv:UnspecifiedMatching +DOID:2494 angiodysplasia oboInOwl:hasDbXref UMLS:C0085411 semapv:UnspecifiedMatching DOID:2494 angiodysplasia skos:exactMatch MESH:D016888 semapv:UnspecifiedMatching DOID:2495 senile angioma oboInOwl:hasDbXref NCI:C4390 semapv:UnspecifiedMatching -DOID:2495 senile angioma oboInOwl:hasDbXref UMLS_CUI:C0343082 semapv:UnspecifiedMatching +DOID:2495 senile angioma oboInOwl:hasDbXref UMLS:C0343082 semapv:UnspecifiedMatching DOID:2497 enamel erosion oboInOwl:hasDbXref ICD9CM:521.31 semapv:UnspecifiedMatching -DOID:2497 enamel erosion oboInOwl:hasDbXref UMLS_CUI:C0399400 semapv:UnspecifiedMatching +DOID:2497 enamel erosion oboInOwl:hasDbXref UMLS:C0399400 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref ICD10CM:K03.2 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref ICD9CM:521.3 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref MESH:D014077 semapv:UnspecifiedMatching -DOID:2498 tooth erosion oboInOwl:hasDbXref UMLS_CUI:C0040436 semapv:UnspecifiedMatching +DOID:2498 tooth erosion oboInOwl:hasDbXref UMLS:C0040436 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref GARD:7730 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref ICD10CM:M31.4 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref ICD9CM:446.7 semapv:UnspecifiedMatching @@ -26066,21 +26377,21 @@ DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref MESH:D013625 semapv:Unspecifie DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref NCI:C34391 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref NCI:C35062 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref OMIM:207600 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS_CUI:C0003490 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS_CUI:C0039263 semapv:UnspecifiedMatching +DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS:C0003490 semapv:UnspecifiedMatching +DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS:C0039263 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis skos:exactMatch OMIM:207600 semapv:UnspecifiedMatching DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref ICD9CM:291.89 semapv:UnspecifiedMatching -DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref UMLS_CUI:C1456283 semapv:UnspecifiedMatching +DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref UMLS:C1456283 semapv:UnspecifiedMatching DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref MESH:D020232 semapv:UnspecifiedMatching DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref NCI:C84802 semapv:UnspecifiedMatching -DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref UMLS_CUI:C0270707 semapv:UnspecifiedMatching +DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref UMLS:C0270707 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref GARD:7166 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MEDDRA:10062804 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MESH:D001478 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref NCI:C2892 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref OMIMPS:109400 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref ORDO:377 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref UMLS_CUI:C0004779 semapv:UnspecifiedMatching +DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref UMLS:C0004779 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome skos:exactMatch OMIMPS:109400 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref EFO:0004193 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref ICDO:8090/3 semapv:UnspecifiedMatching @@ -26089,124 +26400,124 @@ DOID:2513 basal cell carcinoma oboInOwl:hasDbXref MESH:D018295 semapv:Unspecifie DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C156767 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C3784 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C7586 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007117 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206710 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1368295 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS:C0007117 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS:C0206710 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS:C1368295 semapv:UnspecifiedMatching DOID:2516 intracranial cavernous angioma oboInOwl:hasDbXref NCI:C5432 semapv:UnspecifiedMatching -DOID:2516 intracranial cavernous angioma oboInOwl:hasDbXref UMLS_CUI:C1334237 semapv:UnspecifiedMatching +DOID:2516 intracranial cavernous angioma oboInOwl:hasDbXref UMLS:C1334237 semapv:UnspecifiedMatching DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref ICD10CM:D18.02 semapv:UnspecifiedMatching DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref ICD9CM:228.02 semapv:UnspecifiedMatching DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref NCI:C3633 semapv:UnspecifiedMatching -DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref UMLS_CUI:C0154050 semapv:UnspecifiedMatching +DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref UMLS:C0154050 semapv:UnspecifiedMatching DOID:2518 orchitis oboInOwl:hasDbXref ICD10CM:N45.2 semapv:UnspecifiedMatching DOID:2518 orchitis oboInOwl:hasDbXref MESH:D009920 semapv:UnspecifiedMatching DOID:2518 orchitis oboInOwl:hasDbXref NCI:C97145 semapv:UnspecifiedMatching -DOID:2518 orchitis oboInOwl:hasDbXref UMLS_CUI:C0029191 semapv:UnspecifiedMatching +DOID:2518 orchitis oboInOwl:hasDbXref UMLS:C0029191 semapv:UnspecifiedMatching DOID:2519 testicular disease oboInOwl:hasDbXref MESH:D013733 semapv:UnspecifiedMatching DOID:2519 testicular disease oboInOwl:hasDbXref NCI:C26890 semapv:UnspecifiedMatching -DOID:2519 testicular disease oboInOwl:hasDbXref UMLS_CUI:C0039584 semapv:UnspecifiedMatching +DOID:2519 testicular disease oboInOwl:hasDbXref UMLS:C0039584 semapv:UnspecifiedMatching DOID:252 alcoholic psychosis oboInOwl:hasDbXref ICD9CM:291.9 semapv:UnspecifiedMatching DOID:252 alcoholic psychosis oboInOwl:hasDbXref MESH:D011604 semapv:UnspecifiedMatching -DOID:252 alcoholic psychosis oboInOwl:hasDbXref UMLS_CUI:C0033936 semapv:UnspecifiedMatching +DOID:252 alcoholic psychosis oboInOwl:hasDbXref UMLS:C0033936 semapv:UnspecifiedMatching DOID:2526 prostate adenocarcinoma oboInOwl:hasDbXref NCI:C2919 semapv:UnspecifiedMatching -DOID:2526 prostate adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007112 semapv:UnspecifiedMatching +DOID:2526 prostate adenocarcinoma oboInOwl:hasDbXref UMLS:C0007112 semapv:UnspecifiedMatching DOID:2527 nephrosis oboInOwl:hasDbXref MESH:D009401 semapv:UnspecifiedMatching -DOID:2527 nephrosis oboInOwl:hasDbXref UMLS_CUI:C0027720 semapv:UnspecifiedMatching +DOID:2527 nephrosis oboInOwl:hasDbXref UMLS:C0027720 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref ICD10CM:D73 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref ICD9CM:289.50 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref MESH:D013158 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref NCI:C35823 semapv:UnspecifiedMatching -DOID:2529 splenic disease oboInOwl:hasDbXref UMLS_CUI:C0037997 semapv:UnspecifiedMatching +DOID:2529 splenic disease oboInOwl:hasDbXref UMLS:C0037997 semapv:UnspecifiedMatching DOID:2530 splenic abscess oboInOwl:hasDbXref ICD10CM:D73.3 semapv:UnspecifiedMatching DOID:2530 splenic abscess oboInOwl:hasDbXref NCI:C35347 semapv:UnspecifiedMatching -DOID:2530 splenic abscess oboInOwl:hasDbXref UMLS_CUI:C0272412 semapv:UnspecifiedMatching +DOID:2530 splenic abscess oboInOwl:hasDbXref UMLS:C0272412 semapv:UnspecifiedMatching DOID:2531 hematologic cancer oboInOwl:hasDbXref MESH:D019337 semapv:UnspecifiedMatching DOID:2531 hematologic cancer oboInOwl:hasDbXref NCI:C27134 semapv:UnspecifiedMatching -DOID:2531 hematologic cancer oboInOwl:hasDbXref UMLS_CUI:C0376544 semapv:UnspecifiedMatching +DOID:2531 hematologic cancer oboInOwl:hasDbXref UMLS:C0376544 semapv:UnspecifiedMatching DOID:2533 splenic infarction oboInOwl:hasDbXref GARD:9973 semapv:UnspecifiedMatching DOID:2533 splenic infarction oboInOwl:hasDbXref ICD10CM:D73.5 semapv:UnspecifiedMatching DOID:2533 splenic infarction oboInOwl:hasDbXref MESH:D013159 semapv:UnspecifiedMatching -DOID:2533 splenic infarction oboInOwl:hasDbXref UMLS_CUI:C0037998 semapv:UnspecifiedMatching +DOID:2533 splenic infarction oboInOwl:hasDbXref UMLS:C0037998 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref ICD10CM:G61.81 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref ICD9CM:357.81 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref MESH:D020277 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref NCI:C84636 semapv:UnspecifiedMatching -DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref UMLS_CUI:C0393819 semapv:UnspecifiedMatching +DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref UMLS:C0393819 semapv:UnspecifiedMatching DOID:2537 inflammatory and toxic neuropathy oboInOwl:hasDbXref ICD9CM:357 semapv:UnspecifiedMatching -DOID:2537 inflammatory and toxic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0154758 semapv:UnspecifiedMatching +DOID:2537 inflammatory and toxic neuropathy oboInOwl:hasDbXref UMLS:C0154758 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref GARD:6855 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref NCI:C84806 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ORDO:98818 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS_CUI:C0282512 semapv:UnspecifiedMatching +DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS:C0282512 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome skos:exactMatch OMIM:245570 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref ICD10CM:D18.03 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref ICD9CM:228.04 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref NCI:C3635 semapv:UnspecifiedMatching -DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref UMLS_CUI:C0154052 semapv:UnspecifiedMatching +DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref UMLS:C0154052 semapv:UnspecifiedMatching DOID:2544 extratemporal epilepsy oboInOwl:hasDbXref NCI:C7760 semapv:UnspecifiedMatching -DOID:2544 extratemporal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270849 semapv:UnspecifiedMatching +DOID:2544 extratemporal epilepsy oboInOwl:hasDbXref UMLS:C0270849 semapv:UnspecifiedMatching DOID:2548 reflex epilepsy oboInOwl:hasDbXref MESH:D020195 semapv:UnspecifiedMatching DOID:2548 reflex epilepsy oboInOwl:hasDbXref NCI:C85041 semapv:UnspecifiedMatching -DOID:2548 reflex epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270857 semapv:UnspecifiedMatching +DOID:2548 reflex epilepsy oboInOwl:hasDbXref UMLS:C0270857 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref ICD10CM:D18.0 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref ICD9CM:228.00 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref ICDO:9120/0 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref NCI:C3085 semapv:UnspecifiedMatching -DOID:255 hemangioma oboInOwl:hasDbXref UMLS_CUI:C0018916 semapv:UnspecifiedMatching +DOID:255 hemangioma oboInOwl:hasDbXref UMLS:C0018916 semapv:UnspecifiedMatching DOID:2550 tactile epilepsy oboInOwl:hasDbXref NCI:C4687 semapv:UnspecifiedMatching -DOID:2550 tactile epilepsy oboInOwl:hasDbXref UMLS_CUI:C0393724 semapv:UnspecifiedMatching +DOID:2550 tactile epilepsy oboInOwl:hasDbXref UMLS:C0393724 semapv:UnspecifiedMatching DOID:2555 granulomatous angiitis oboInOwl:hasDbXref MESH:D020293 semapv:UnspecifiedMatching DOID:2555 granulomatous angiitis oboInOwl:hasDbXref NCI:C34653 semapv:UnspecifiedMatching -DOID:2555 granulomatous angiitis oboInOwl:hasDbXref UMLS_CUI:C0018202 semapv:UnspecifiedMatching +DOID:2555 granulomatous angiitis oboInOwl:hasDbXref UMLS:C0018202 semapv:UnspecifiedMatching DOID:2556 relapsing polychondritis oboInOwl:hasDbXref GARD:7417 semapv:UnspecifiedMatching DOID:2556 relapsing polychondritis oboInOwl:hasDbXref ICD10CM:M94.1 semapv:UnspecifiedMatching DOID:2556 relapsing polychondritis oboInOwl:hasDbXref MESH:D011081 semapv:UnspecifiedMatching DOID:2556 relapsing polychondritis oboInOwl:hasDbXref NCI:C157268 semapv:UnspecifiedMatching -DOID:2556 relapsing polychondritis oboInOwl:hasDbXref UMLS_CUI:C0032453 semapv:UnspecifiedMatching +DOID:2556 relapsing polychondritis oboInOwl:hasDbXref UMLS:C0032453 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref ICD10CM:M94.2 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref ICD9CM:733.92 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref MESH:D002357 semapv:UnspecifiedMatching -DOID:2557 chondromalacia oboInOwl:hasDbXref UMLS_CUI:C0085700 semapv:UnspecifiedMatching +DOID:2557 chondromalacia oboInOwl:hasDbXref UMLS:C0085700 semapv:UnspecifiedMatching DOID:2559 opiate dependence oboInOwl:hasDbXref ICD10CM:F11.2 semapv:UnspecifiedMatching DOID:2559 opiate dependence oboInOwl:hasDbXref ICD9CM:304.00 semapv:UnspecifiedMatching DOID:2559 opiate dependence oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching -DOID:2559 opiate dependence oboInOwl:hasDbXref UMLS_CUI:C0524662 semapv:UnspecifiedMatching +DOID:2559 opiate dependence oboInOwl:hasDbXref UMLS:C0524662 semapv:UnspecifiedMatching DOID:256 hemangioma of spleen oboInOwl:hasDbXref NCI:C8541 semapv:UnspecifiedMatching -DOID:256 hemangioma of spleen oboInOwl:hasDbXref UMLS_CUI:C0685201 semapv:UnspecifiedMatching +DOID:256 hemangioma of spleen oboInOwl:hasDbXref UMLS:C0685201 semapv:UnspecifiedMatching DOID:2560 morphine dependence oboInOwl:hasDbXref MESH:D009021 semapv:UnspecifiedMatching -DOID:2560 morphine dependence oboInOwl:hasDbXref UMLS_CUI:C0026552 semapv:UnspecifiedMatching +DOID:2560 morphine dependence oboInOwl:hasDbXref UMLS:C0026552 semapv:UnspecifiedMatching DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref MESH:D010482 semapv:UnspecifiedMatching DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref NCI:C34913 semapv:UnspecifiedMatching -DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031024 semapv:UnspecifiedMatching +DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref UMLS:C0031024 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.55 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.55 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref NCI:C34793 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 semapv:UnspecifiedMatching -DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0024439 semapv:UnspecifiedMatching +DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref UMLS:C0024439 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy skos:exactMatch OMIM:217800 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.5 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref NCI:C34512 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref NCI:C34513 semapv:UnspecifiedMatching -DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0010035 semapv:UnspecifiedMatching -DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0010036 semapv:UnspecifiedMatching +DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS:C0010035 semapv:UnspecifiedMatching +DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS:C0010036 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref ICD10CM:N72 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref ICD9CM:616.0 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref MESH:D002575 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref NCI:C26716 semapv:UnspecifiedMatching -DOID:2568 cervicitis oboInOwl:hasDbXref UMLS_CUI:C0007860 semapv:UnspecifiedMatching -DOID:2568 cervicitis oboInOwl:hasDbXref UMLS_CUI:C0007861 semapv:UnspecifiedMatching +DOID:2568 cervicitis oboInOwl:hasDbXref UMLS:C0007860 semapv:UnspecifiedMatching +DOID:2568 cervicitis oboInOwl:hasDbXref UMLS:C0007861 semapv:UnspecifiedMatching DOID:2569 retinal drusen oboInOwl:hasDbXref ICD9CM:362.57 semapv:UnspecifiedMatching DOID:2569 retinal drusen oboInOwl:hasDbXref MESH:D015593 semapv:UnspecifiedMatching -DOID:2569 retinal drusen oboInOwl:hasDbXref UMLS_CUI:C0035312 semapv:UnspecifiedMatching +DOID:2569 retinal drusen oboInOwl:hasDbXref UMLS:C0035312 semapv:UnspecifiedMatching DOID:2570 malignant histiocytic disease oboInOwl:hasDbXref MESH:D015620 semapv:UnspecifiedMatching -DOID:2570 malignant histiocytic disease oboInOwl:hasDbXref UMLS_CUI:C0019613 semapv:UnspecifiedMatching +DOID:2570 malignant histiocytic disease oboInOwl:hasDbXref UMLS:C0019613 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD10CM:C96.0 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD10CM:C96.6 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD9CM:202.5 semapv:UnspecifiedMatching @@ -26217,17 +26528,17 @@ DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref NCI:C3107 semapv:Unsp DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref NCI:C3160 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:246400 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019621 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0023381 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS:C0019621 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS:C0023381 semapv:UnspecifiedMatching DOID:2575 barbiturate dependence oboInOwl:hasDbXref ICD9CM:304.11 semapv:UnspecifiedMatching -DOID:2575 barbiturate dependence oboInOwl:hasDbXref UMLS_CUI:C0154482 semapv:UnspecifiedMatching +DOID:2575 barbiturate dependence oboInOwl:hasDbXref UMLS:C0154482 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref GARD:13160 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:E71.540 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref NCI:C85047 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIMPS:215100 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ORDO:177 semapv:UnspecifiedMatching -DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS_CUI:C0282529 semapv:UnspecifiedMatching +DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282529 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata skos:exactMatch OMIMPS:215100 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref GARD:8542 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching @@ -26235,7 +26546,7 @@ DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref MESH:D002806 semapv:Unspe DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref NCI:C84632 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ORDO:93442 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref UMLS_CUI:C0008445 semapv:UnspecifiedMatching +DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0008445 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata skos:exactMatch OMIM:215105 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata skos:narrowMatch MESH:D002806 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref GARD:363 semapv:UnspecifiedMatching @@ -26243,85 +26554,85 @@ DOID:2582 acatalasia oboInOwl:hasDbXref MESH:D020642 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref NCI:C84526 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref ORDO:926 semapv:UnspecifiedMatching -DOID:2582 acatalasia oboInOwl:hasDbXref UMLS_CUI:C0268419 semapv:UnspecifiedMatching +DOID:2582 acatalasia oboInOwl:hasDbXref UMLS:C0268419 semapv:UnspecifiedMatching DOID:2582 acatalasia skos:exactMatch OMIM:614097 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref ICD10CM:D80.1 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref ICD9CM:279.00 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref MESH:D000361 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref NCI:C26931 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref OMIMPS:601495 semapv:UnspecifiedMatching -DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0001768 semapv:UnspecifiedMatching -DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0086438 semapv:UnspecifiedMatching +DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS:C0001768 semapv:UnspecifiedMatching +DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS:C0086438 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia skos:exactMatch MESH:D000361 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia skos:exactMatch OMIMPS:601495 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref ICD10CM:N04 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref MESH:C535761 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref NCI:C35337 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref OMIMPS:256300 semapv:UnspecifiedMatching -DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref UMLS_CUI:C3501848 semapv:UnspecifiedMatching +DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref UMLS:C3501848 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome skos:exactMatch OMIMPS:256300 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref ICD10CM:C32.0 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref ICD9CM:161.0 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref NCI:C3544 semapv:UnspecifiedMatching -DOID:2595 glottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153483 semapv:UnspecifiedMatching +DOID:2595 glottis cancer oboInOwl:hasDbXref UMLS:C0153483 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref GARD:6862 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref ICD10CM:C32 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref ICD9CM:161 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref MESH:D007822 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref NCI:C7484 semapv:UnspecifiedMatching -DOID:2596 larynx cancer oboInOwl:hasDbXref UMLS_CUI:C0007107 semapv:UnspecifiedMatching +DOID:2596 larynx cancer oboInOwl:hasDbXref UMLS:C0007107 semapv:UnspecifiedMatching DOID:2597 glottis neoplasm oboInOwl:hasDbXref NCI:C4425 semapv:UnspecifiedMatching -DOID:2597 glottis neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345713 semapv:UnspecifiedMatching +DOID:2597 glottis neoplasm oboInOwl:hasDbXref UMLS:C0345713 semapv:UnspecifiedMatching DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref MESH:D007822 semapv:UnspecifiedMatching DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref NCI:C3156 semapv:UnspecifiedMatching -DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0023055 semapv:UnspecifiedMatching +DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref UMLS:C0023055 semapv:UnspecifiedMatching DOID:2599 glottis carcinoma oboInOwl:hasDbXref NCI:C4923 semapv:UnspecifiedMatching -DOID:2599 glottis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0740083 semapv:UnspecifiedMatching +DOID:2599 glottis carcinoma oboInOwl:hasDbXref UMLS:C0740083 semapv:UnspecifiedMatching DOID:26 pancreas disease oboInOwl:hasDbXref ICD10CM:K86.8 semapv:UnspecifiedMatching DOID:26 pancreas disease oboInOwl:hasDbXref ICD9CM:577.8 semapv:UnspecifiedMatching -DOID:26 pancreas disease oboInOwl:hasDbXref UMLS_CUI:C0029771 semapv:UnspecifiedMatching +DOID:26 pancreas disease oboInOwl:hasDbXref UMLS:C0029771 semapv:UnspecifiedMatching DOID:260 hepatic flexure cancer oboInOwl:hasDbXref ICD10CM:C18.3 semapv:UnspecifiedMatching DOID:260 hepatic flexure cancer oboInOwl:hasDbXref ICD9CM:153.0 semapv:UnspecifiedMatching -DOID:260 hepatic flexure cancer oboInOwl:hasDbXref UMLS_CUI:C0153433 semapv:UnspecifiedMatching +DOID:260 hepatic flexure cancer oboInOwl:hasDbXref UMLS:C0153433 semapv:UnspecifiedMatching DOID:2600 laryngeal carcinoma oboInOwl:hasDbXref NCI:C4855 semapv:UnspecifiedMatching -DOID:2600 laryngeal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0595989 semapv:UnspecifiedMatching +DOID:2600 laryngeal carcinoma oboInOwl:hasDbXref UMLS:C0595989 semapv:UnspecifiedMatching DOID:2601 juxtacortical chondroma oboInOwl:hasDbXref NCI:C4302 semapv:UnspecifiedMatching -DOID:2601 juxtacortical chondroma oboInOwl:hasDbXref UMLS_CUI:C0334548 semapv:UnspecifiedMatching +DOID:2601 juxtacortical chondroma oboInOwl:hasDbXref UMLS:C0334548 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref GARD:6052 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref ICDO:9220/0 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref MESH:D002812 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref NCI:C53459 semapv:UnspecifiedMatching -DOID:2602 chondroma oboInOwl:hasDbXref UMLS_CUI:C0936248 semapv:UnspecifiedMatching +DOID:2602 chondroma oboInOwl:hasDbXref UMLS:C0936248 semapv:UnspecifiedMatching DOID:2609 adenomyoma oboInOwl:hasDbXref ICDO:8932/0 semapv:UnspecifiedMatching DOID:2609 adenomyoma oboInOwl:hasDbXref MESH:D018194 semapv:UnspecifiedMatching DOID:2609 adenomyoma oboInOwl:hasDbXref NCI:C3726 semapv:UnspecifiedMatching -DOID:2609 adenomyoma oboInOwl:hasDbXref UMLS_CUI:C0206622 semapv:UnspecifiedMatching +DOID:2609 adenomyoma oboInOwl:hasDbXref UMLS:C0206622 semapv:UnspecifiedMatching DOID:2609 adenomyoma skos:exactMatch MESH:D018194 semapv:UnspecifiedMatching DOID:261 transverse colon cancer oboInOwl:hasDbXref ICD10CM:C18.4 semapv:UnspecifiedMatching DOID:261 transverse colon cancer oboInOwl:hasDbXref ICD9CM:153.1 semapv:UnspecifiedMatching -DOID:261 transverse colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153434 semapv:UnspecifiedMatching +DOID:261 transverse colon cancer oboInOwl:hasDbXref UMLS:C0153434 semapv:UnspecifiedMatching DOID:2614 serous surface papilloma oboInOwl:hasDbXref ICDO:8461/0 semapv:UnspecifiedMatching DOID:2614 serous surface papilloma oboInOwl:hasDbXref NCI:C4181 semapv:UnspecifiedMatching -DOID:2614 serous surface papilloma oboInOwl:hasDbXref UMLS_CUI:C0334360 semapv:UnspecifiedMatching +DOID:2614 serous surface papilloma oboInOwl:hasDbXref UMLS:C0334360 semapv:UnspecifiedMatching DOID:2615 papilloma oboInOwl:hasDbXref ICDO:8050/0 semapv:UnspecifiedMatching DOID:2615 papilloma oboInOwl:hasDbXref MESH:D010212 semapv:UnspecifiedMatching DOID:2615 papilloma oboInOwl:hasDbXref NCI:C3713 semapv:UnspecifiedMatching DOID:2615 papilloma oboInOwl:hasDbXref NCI:C7440 semapv:UnspecifiedMatching -DOID:2615 papilloma oboInOwl:hasDbXref UMLS_CUI:C0030354 semapv:UnspecifiedMatching -DOID:2615 papilloma oboInOwl:hasDbXref UMLS_CUI:C0205875 semapv:UnspecifiedMatching -DOID:2616 Wolffian duct adenoma oboInOwl:hasDbXref UMLS_CUI:C0334530 semapv:UnspecifiedMatching +DOID:2615 papilloma oboInOwl:hasDbXref UMLS:C0030354 semapv:UnspecifiedMatching +DOID:2615 papilloma oboInOwl:hasDbXref UMLS:C0205875 semapv:UnspecifiedMatching +DOID:2616 Wolffian duct adenoma oboInOwl:hasDbXref UMLS:C0334530 semapv:UnspecifiedMatching DOID:262 kidney hemangiopericytoma oboInOwl:hasDbXref NCI:C4527 semapv:UnspecifiedMatching -DOID:262 kidney hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0346256 semapv:UnspecifiedMatching +DOID:262 kidney hemangiopericytoma oboInOwl:hasDbXref UMLS:C0346256 semapv:UnspecifiedMatching DOID:2621 autonomic nervous system neoplasm oboInOwl:hasDbXref NCI:C5112 semapv:UnspecifiedMatching -DOID:2621 autonomic nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332356 semapv:UnspecifiedMatching +DOID:2621 autonomic nervous system neoplasm oboInOwl:hasDbXref UMLS:C1332356 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref GARD:4214 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref ICDO:9390/0 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref MESH:D020288 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref NCI:C3698 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref NCI:C5800 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching -DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS_CUI:C0205770 semapv:UnspecifiedMatching -DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS_CUI:C1332963 semapv:UnspecifiedMatching +DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS:C0205770 semapv:UnspecifiedMatching +DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS:C1332963 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma skos:exactMatch OMIM:260500 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref ICD10CM:C64 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref ICD9CM:189.0 semapv:UnspecifiedMatching @@ -26329,219 +26640,219 @@ DOID:263 kidney cancer oboInOwl:hasDbXref MESH:D007680 semapv:UnspecifiedMatchin DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C120456 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C3150 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C7548 semapv:UnspecifiedMatching -DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0022665 semapv:UnspecifiedMatching -DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0494158 semapv:UnspecifiedMatching -DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0740457 semapv:UnspecifiedMatching +DOID:263 kidney cancer oboInOwl:hasDbXref UMLS:C0022665 semapv:UnspecifiedMatching +DOID:263 kidney cancer oboInOwl:hasDbXref UMLS:C0494158 semapv:UnspecifiedMatching +DOID:263 kidney cancer oboInOwl:hasDbXref UMLS:C0740457 semapv:UnspecifiedMatching DOID:2632 papillary serous adenocarcinoma oboInOwl:hasDbXref NCI:C4182 semapv:UnspecifiedMatching DOID:2634 cystadenoma oboInOwl:hasDbXref ICDO:8440/0 semapv:UnspecifiedMatching DOID:2634 cystadenoma oboInOwl:hasDbXref MESH:D003537 semapv:UnspecifiedMatching DOID:2634 cystadenoma oboInOwl:hasDbXref NCI:C2972 semapv:UnspecifiedMatching -DOID:2634 cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0010633 semapv:UnspecifiedMatching +DOID:2634 cystadenoma oboInOwl:hasDbXref UMLS:C0010633 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref GARD:9397 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref MESH:D001948 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref NCI:C39954 semapv:UnspecifiedMatching -DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref UMLS_CUI:C0006160 semapv:UnspecifiedMatching +DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref UMLS:C0006160 semapv:UnspecifiedMatching DOID:2639 breast pericanalicular fibroadenoma oboInOwl:hasDbXref NCI:C4272 semapv:UnspecifiedMatching -DOID:2639 breast pericanalicular fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0334497 semapv:UnspecifiedMatching +DOID:2639 breast pericanalicular fibroadenoma oboInOwl:hasDbXref UMLS:C0334497 semapv:UnspecifiedMatching DOID:264 hemangiopericytoma oboInOwl:hasDbXref GARD:2627 semapv:UnspecifiedMatching DOID:264 hemangiopericytoma oboInOwl:hasDbXref ICDO:9150/3 semapv:UnspecifiedMatching DOID:264 hemangiopericytoma oboInOwl:hasDbXref MESH:D006393 semapv:UnspecifiedMatching DOID:264 hemangiopericytoma oboInOwl:hasDbXref NCI:C3087 semapv:UnspecifiedMatching -DOID:264 hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0018922 semapv:UnspecifiedMatching +DOID:264 hemangiopericytoma oboInOwl:hasDbXref UMLS:C0018922 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref ICDO:9090/0 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref MESH:D013330 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref NCI:C7468 semapv:UnspecifiedMatching -DOID:2640 struma ovarii oboInOwl:hasDbXref UMLS_CUI:C0038478 semapv:UnspecifiedMatching +DOID:2640 struma ovarii oboInOwl:hasDbXref UMLS:C0038478 semapv:UnspecifiedMatching DOID:2641 ovarian germ cell monodermal and highly specialized teratoma oboInOwl:hasDbXref NCI:C8113 semapv:UnspecifiedMatching -DOID:2641 ovarian germ cell monodermal and highly specialized teratoma oboInOwl:hasDbXref UMLS_CUI:C0280134 semapv:UnspecifiedMatching +DOID:2641 ovarian germ cell monodermal and highly specialized teratoma oboInOwl:hasDbXref UMLS:C0280134 semapv:UnspecifiedMatching DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref MESH:D054973 semapv:UnspecifiedMatching DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref NCI:C38150 semapv:UnspecifiedMatching -DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref UMLS_CUI:C1300127 semapv:UnspecifiedMatching +DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref UMLS:C1300127 semapv:UnspecifiedMatching DOID:2645 benign mesothelioma oboInOwl:hasDbXref ICD10CM:C45 semapv:UnspecifiedMatching DOID:2645 benign mesothelioma oboInOwl:hasDbXref MESH:D008654 semapv:UnspecifiedMatching DOID:2645 benign mesothelioma oboInOwl:hasDbXref NCI:C3234 semapv:UnspecifiedMatching -DOID:2645 benign mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0025500 semapv:UnspecifiedMatching +DOID:2645 benign mesothelioma oboInOwl:hasDbXref UMLS:C0025500 semapv:UnspecifiedMatching DOID:2647 parachordoma oboInOwl:hasDbXref ICDO:9373/0 semapv:UnspecifiedMatching DOID:2647 parachordoma oboInOwl:hasDbXref NCI:C6581 semapv:UnspecifiedMatching -DOID:2647 parachordoma oboInOwl:hasDbXref UMLS_CUI:C1266175 semapv:UnspecifiedMatching +DOID:2647 parachordoma oboInOwl:hasDbXref UMLS:C1266175 semapv:UnspecifiedMatching DOID:2648 sebaceous adenoma oboInOwl:hasDbXref NCI:C4174 semapv:UnspecifiedMatching -DOID:2648 sebaceous adenoma oboInOwl:hasDbXref UMLS_CUI:C1368816 semapv:UnspecifiedMatching +DOID:2648 sebaceous adenoma oboInOwl:hasDbXref UMLS:C1368816 semapv:UnspecifiedMatching DOID:2649 chondroblastoma oboInOwl:hasDbXref GARD:6047 semapv:UnspecifiedMatching DOID:2649 chondroblastoma oboInOwl:hasDbXref ICDO:9230/1 semapv:UnspecifiedMatching DOID:2649 chondroblastoma oboInOwl:hasDbXref MESH:D002804 semapv:UnspecifiedMatching DOID:2649 chondroblastoma oboInOwl:hasDbXref NCI:C2945 semapv:UnspecifiedMatching -DOID:2649 chondroblastoma oboInOwl:hasDbXref UMLS_CUI:C0008441 semapv:UnspecifiedMatching +DOID:2649 chondroblastoma oboInOwl:hasDbXref UMLS:C0008441 semapv:UnspecifiedMatching DOID:265 spleen angiosarcoma oboInOwl:hasDbXref NCI:C4564 semapv:UnspecifiedMatching -DOID:265 spleen angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346424 semapv:UnspecifiedMatching +DOID:265 spleen angiosarcoma oboInOwl:hasDbXref UMLS:C0346424 semapv:UnspecifiedMatching DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref MESH:D054363 semapv:UnspecifiedMatching DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref NCI:C4457 semapv:UnspecifiedMatching -DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334511 semapv:UnspecifiedMatching +DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref UMLS:C0334511 semapv:UnspecifiedMatching DOID:2656 breast intracanalicular fibroadenoma oboInOwl:hasDbXref NCI:C4271 semapv:UnspecifiedMatching -DOID:2656 breast intracanalicular fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0334496 semapv:UnspecifiedMatching +DOID:2656 breast intracanalicular fibroadenoma oboInOwl:hasDbXref UMLS:C0334496 semapv:UnspecifiedMatching DOID:2658 dermoid cyst oboInOwl:hasDbXref ICD10CM:K09.8 semapv:UnspecifiedMatching DOID:2658 dermoid cyst oboInOwl:hasDbXref ICDO:9084/0 semapv:UnspecifiedMatching DOID:2658 dermoid cyst oboInOwl:hasDbXref MESH:D003884 semapv:UnspecifiedMatching DOID:2658 dermoid cyst oboInOwl:hasDbXref NCI:C9011 semapv:UnspecifiedMatching -DOID:2658 dermoid cyst oboInOwl:hasDbXref UMLS_CUI:C0011649 semapv:UnspecifiedMatching +DOID:2658 dermoid cyst oboInOwl:hasDbXref UMLS:C0011649 semapv:UnspecifiedMatching DOID:2660 cystic teratoma oboInOwl:hasDbXref NCI:C9014 semapv:UnspecifiedMatching -DOID:2660 cystic teratoma oboInOwl:hasDbXref UMLS_CUI:C1368903 semapv:UnspecifiedMatching +DOID:2660 cystic teratoma oboInOwl:hasDbXref UMLS:C1368903 semapv:UnspecifiedMatching DOID:2661 myoepithelioma oboInOwl:hasDbXref ICDO:8982/0 semapv:UnspecifiedMatching DOID:2661 myoepithelioma oboInOwl:hasDbXref MESH:D009208 semapv:UnspecifiedMatching DOID:2661 myoepithelioma oboInOwl:hasDbXref NCI:C40392 semapv:UnspecifiedMatching -DOID:2661 myoepithelioma oboInOwl:hasDbXref UMLS_CUI:C0027070 semapv:UnspecifiedMatching +DOID:2661 myoepithelioma oboInOwl:hasDbXref UMLS:C0027070 semapv:UnspecifiedMatching DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref MESH:D013544 semapv:UnspecifiedMatching DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref NCI:C3398 semapv:UnspecifiedMatching -DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0038987 semapv:UnspecifiedMatching +DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref UMLS:C0038987 semapv:UnspecifiedMatching DOID:2667 obsolete benign mesenchymoma oboInOwl:hasDbXref NCI:C4267 semapv:UnspecifiedMatching DOID:2668 mesenchymoma oboInOwl:hasDbXref ICDO:8990/3 semapv:UnspecifiedMatching DOID:2668 mesenchymoma oboInOwl:hasDbXref MESH:D008637 semapv:UnspecifiedMatching DOID:2668 mesenchymoma oboInOwl:hasDbXref NCI:C3233 semapv:UnspecifiedMatching -DOID:2668 mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0025464 semapv:UnspecifiedMatching +DOID:2668 mesenchymoma oboInOwl:hasDbXref UMLS:C0025464 semapv:UnspecifiedMatching DOID:2669 Pacinian tumor oboInOwl:hasDbXref ICDO:9507/0 semapv:UnspecifiedMatching DOID:2669 Pacinian tumor oboInOwl:hasDbXref NCI:C4328 semapv:UnspecifiedMatching -DOID:2669 Pacinian tumor oboInOwl:hasDbXref UMLS_CUI:C0334599 semapv:UnspecifiedMatching +DOID:2669 Pacinian tumor oboInOwl:hasDbXref UMLS:C0334599 semapv:UnspecifiedMatching DOID:2670 transitional papilloma oboInOwl:hasDbXref NCI:C4115 semapv:UnspecifiedMatching -DOID:2670 transitional papilloma oboInOwl:hasDbXref UMLS_CUI:C0334266 semapv:UnspecifiedMatching +DOID:2670 transitional papilloma oboInOwl:hasDbXref UMLS:C0334266 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref GARD:7794 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref ICDO:8120/3 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref MESH:D002295 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref NCI:C2930 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref NCI:C6783 semapv:UnspecifiedMatching -DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007138 semapv:UnspecifiedMatching -DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334265 semapv:UnspecifiedMatching +DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS:C0007138 semapv:UnspecifiedMatching +DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS:C0334265 semapv:UnspecifiedMatching DOID:2673 adult cystic nephroma oboInOwl:hasDbXref NCI:C7504 semapv:UnspecifiedMatching DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref GARD:10640 semapv:UnspecifiedMatching DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICDO:9413/0 semapv:UnspecifiedMatching DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref NCI:C9505 semapv:UnspecifiedMatching -DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref UMLS_CUI:C1266177 semapv:UnspecifiedMatching +DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref UMLS:C1266177 semapv:UnspecifiedMatching DOID:268 liver angiosarcoma oboInOwl:hasDbXref GARD:5813 semapv:UnspecifiedMatching DOID:268 liver angiosarcoma oboInOwl:hasDbXref ICD10CM:C22.3 semapv:UnspecifiedMatching DOID:268 liver angiosarcoma oboInOwl:hasDbXref NCI:C4438 semapv:UnspecifiedMatching -DOID:268 liver angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0345907 semapv:UnspecifiedMatching +DOID:268 liver angiosarcoma oboInOwl:hasDbXref UMLS:C0345907 semapv:UnspecifiedMatching DOID:2682 intracystic papillary adenoma oboInOwl:hasDbXref ICDO:8504/0 semapv:UnspecifiedMatching -DOID:2682 intracystic papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C0334374 semapv:UnspecifiedMatching +DOID:2682 intracystic papillary adenoma oboInOwl:hasDbXref UMLS:C0334374 semapv:UnspecifiedMatching DOID:2683 adenofibroma oboInOwl:hasDbXref ICDO:9013/0 semapv:UnspecifiedMatching DOID:2683 adenofibroma oboInOwl:hasDbXref MESH:D000232 semapv:UnspecifiedMatching -DOID:2683 adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0001422 semapv:UnspecifiedMatching +DOID:2683 adenofibroma oboInOwl:hasDbXref UMLS:C0001422 semapv:UnspecifiedMatching DOID:2683 adenofibroma skos:exactMatch MESH:D000232 semapv:UnspecifiedMatching DOID:2685 ossifying fibromyxoid tumor oboInOwl:hasDbXref ICDO:8842/0 semapv:UnspecifiedMatching DOID:2685 ossifying fibromyxoid tumor oboInOwl:hasDbXref NCI:C6582 semapv:UnspecifiedMatching -DOID:2685 ossifying fibromyxoid tumor oboInOwl:hasDbXref UMLS_CUI:C1266128 semapv:UnspecifiedMatching +DOID:2685 ossifying fibromyxoid tumor oboInOwl:hasDbXref UMLS:C1266128 semapv:UnspecifiedMatching DOID:2687 skin sarcoma oboInOwl:hasDbXref NCI:C5585 semapv:UnspecifiedMatching -DOID:2687 skin sarcoma oboInOwl:hasDbXref UMLS_CUI:C0856900 semapv:UnspecifiedMatching +DOID:2687 skin sarcoma oboInOwl:hasDbXref UMLS:C0856900 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref ICDO:9170/3 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref MESH:C537491 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref MESH:D008204 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref NCI:C3205 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref NCI:C4490 semapv:UnspecifiedMatching -DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0024224 semapv:UnspecifiedMatching -DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346082 semapv:UnspecifiedMatching +DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref UMLS:C0024224 semapv:UnspecifiedMatching +DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref UMLS:C0346082 semapv:UnspecifiedMatching DOID:2691 myoma oboInOwl:hasDbXref ICD10CM:D21 semapv:UnspecifiedMatching DOID:2691 myoma oboInOwl:hasDbXref ICDO:8895/0 semapv:UnspecifiedMatching DOID:2691 myoma oboInOwl:hasDbXref MESH:D009214 semapv:UnspecifiedMatching DOID:2691 myoma oboInOwl:hasDbXref NCI:C4882 semapv:UnspecifiedMatching -DOID:2691 myoma oboInOwl:hasDbXref UMLS_CUI:C0027086 semapv:UnspecifiedMatching +DOID:2691 myoma oboInOwl:hasDbXref UMLS:C0027086 semapv:UnspecifiedMatching DOID:2696 Leydig cell tumor oboInOwl:hasDbXref MESH:D007984 semapv:UnspecifiedMatching DOID:2696 Leydig cell tumor oboInOwl:hasDbXref NCI:C3188 semapv:UnspecifiedMatching DOID:2696 Leydig cell tumor oboInOwl:hasDbXref NCI:C4213 semapv:UnspecifiedMatching -DOID:2696 Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C0023601 semapv:UnspecifiedMatching -DOID:2696 Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334410 semapv:UnspecifiedMatching +DOID:2696 Leydig cell tumor oboInOwl:hasDbXref UMLS:C0023601 semapv:UnspecifiedMatching +DOID:2696 Leydig cell tumor oboInOwl:hasDbXref UMLS:C0334410 semapv:UnspecifiedMatching DOID:2697 renal adenoma oboInOwl:hasDbXref NCI:C8383 semapv:UnspecifiedMatching -DOID:2697 renal adenoma oboInOwl:hasDbXref UMLS_CUI:C0334684 semapv:UnspecifiedMatching +DOID:2697 renal adenoma oboInOwl:hasDbXref UMLS:C0334684 semapv:UnspecifiedMatching DOID:2698 nephrogenic adenofibroma oboInOwl:hasDbXref NCI:C39812 semapv:UnspecifiedMatching -DOID:2698 nephrogenic adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1266141 semapv:UnspecifiedMatching +DOID:2698 nephrogenic adenofibroma oboInOwl:hasDbXref UMLS:C1266141 semapv:UnspecifiedMatching DOID:270 liver sarcoma oboInOwl:hasDbXref NCI:C4437 semapv:UnspecifiedMatching -DOID:270 liver sarcoma oboInOwl:hasDbXref UMLS_CUI:C0345906 semapv:UnspecifiedMatching +DOID:270 liver sarcoma oboInOwl:hasDbXref UMLS:C0345906 semapv:UnspecifiedMatching DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref ICDO:9015/0 semapv:UnspecifiedMatching DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref NCI:C8978 semapv:UnspecifiedMatching -DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334499 semapv:UnspecifiedMatching +DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref UMLS:C0334499 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref MESH:D000070779 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref NCI:C3829 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref NCI:C6532 semapv:UnspecifiedMatching -DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0221289 semapv:UnspecifiedMatching -DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0588125 semapv:UnspecifiedMatching +DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref UMLS:C0221289 semapv:UnspecifiedMatching +DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref UMLS:C0588125 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref GARD:7396 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref ICD10CM:M12.2 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref MESH:D013586 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref NCI:C3401 semapv:UnspecifiedMatching -DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref UMLS_CUI:C0039106 semapv:UnspecifiedMatching +DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref UMLS:C0039106 semapv:UnspecifiedMatching DOID:2703 synovitis oboInOwl:hasDbXref GARD:7722 semapv:UnspecifiedMatching DOID:2703 synovitis oboInOwl:hasDbXref MESH:D013585 semapv:UnspecifiedMatching DOID:2703 synovitis oboInOwl:hasDbXref NCI:C50766 semapv:UnspecifiedMatching -DOID:2703 synovitis oboInOwl:hasDbXref UMLS_CUI:C0039103 semapv:UnspecifiedMatching +DOID:2703 synovitis oboInOwl:hasDbXref UMLS:C0039103 semapv:UnspecifiedMatching DOID:2704 malignant giant cell tumor of the tendon sheath oboInOwl:hasDbXref NCI:C6535 semapv:UnspecifiedMatching -DOID:2704 malignant giant cell tumor of the tendon sheath oboInOwl:hasDbXref UMLS_CUI:C1266168 semapv:UnspecifiedMatching +DOID:2704 malignant giant cell tumor of the tendon sheath oboInOwl:hasDbXref UMLS:C1266168 semapv:UnspecifiedMatching DOID:2705 malignant giant cell tumor oboInOwl:hasDbXref NCI:C4090 semapv:UnspecifiedMatching -DOID:2705 malignant giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334229 semapv:UnspecifiedMatching +DOID:2705 malignant giant cell tumor oboInOwl:hasDbXref UMLS:C0334229 semapv:UnspecifiedMatching DOID:2706 synovium cancer oboInOwl:hasDbXref NCI:C6531 semapv:UnspecifiedMatching -DOID:2706 synovium cancer oboInOwl:hasDbXref UMLS_CUI:C1334624 semapv:UnspecifiedMatching +DOID:2706 synovium cancer oboInOwl:hasDbXref UMLS:C1334624 semapv:UnspecifiedMatching DOID:2708 mushroom workers' lung oboInOwl:hasDbXref ICD10CM:J67.5 semapv:UnspecifiedMatching DOID:2708 mushroom workers' lung oboInOwl:hasDbXref ICD9CM:495.5 semapv:UnspecifiedMatching DOID:2708 mushroom workers' lung oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching -DOID:2708 mushroom workers' lung oboInOwl:hasDbXref UMLS_CUI:C0155889 semapv:UnspecifiedMatching +DOID:2708 mushroom workers' lung oboInOwl:hasDbXref UMLS:C0155889 semapv:UnspecifiedMatching DOID:271 hemangioma of liver oboInOwl:hasDbXref NCI:C3869 semapv:UnspecifiedMatching -DOID:271 hemangioma of liver oboInOwl:hasDbXref UMLS_CUI:C0238246 semapv:UnspecifiedMatching +DOID:271 hemangioma of liver oboInOwl:hasDbXref UMLS:C0238246 semapv:UnspecifiedMatching DOID:2710 sick building syndrome oboInOwl:hasDbXref MESH:D018877 semapv:UnspecifiedMatching -DOID:2710 sick building syndrome oboInOwl:hasDbXref UMLS_CUI:C0037050 semapv:UnspecifiedMatching +DOID:2710 sick building syndrome oboInOwl:hasDbXref UMLS:C0037050 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref ICD10CM:N47.1 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref MESH:D010688 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref NCI:C26852 semapv:UnspecifiedMatching -DOID:2712 phimosis oboInOwl:hasDbXref UMLS_CUI:C0031538 semapv:UnspecifiedMatching +DOID:2712 phimosis oboInOwl:hasDbXref UMLS:C0031538 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref NCI:C2903 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref OMIM:210900 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref ORDO:125 semapv:UnspecifiedMatching -DOID:2717 Bloom syndrome oboInOwl:hasDbXref UMLS_CUI:C0005859 semapv:UnspecifiedMatching +DOID:2717 Bloom syndrome oboInOwl:hasDbXref UMLS:C0005859 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome skos:exactMatch OMIM:210900 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref ICD10CM:J94.2 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref MESH:D006468 semapv:UnspecifiedMatching -DOID:2718 hemopneumothorax oboInOwl:hasDbXref UMLS_CUI:C0019077 semapv:UnspecifiedMatching +DOID:2718 hemopneumothorax oboInOwl:hasDbXref UMLS:C0019077 semapv:UnspecifiedMatching DOID:272 hepatic vascular disease oboInOwl:hasDbXref NCI:C35442 semapv:UnspecifiedMatching -DOID:272 hepatic vascular disease oboInOwl:hasDbXref UMLS_CUI:C0400923 semapv:UnspecifiedMatching +DOID:272 hepatic vascular disease oboInOwl:hasDbXref UMLS:C0400923 semapv:UnspecifiedMatching DOID:2722 acrodermatitis oboInOwl:hasDbXref GARD:5722 semapv:UnspecifiedMatching DOID:2722 acrodermatitis oboInOwl:hasDbXref MESH:D000169 semapv:UnspecifiedMatching DOID:2722 acrodermatitis oboInOwl:hasDbXref NCI:C84532 semapv:UnspecifiedMatching -DOID:2722 acrodermatitis oboInOwl:hasDbXref UMLS_CUI:C0001197 semapv:UnspecifiedMatching +DOID:2722 acrodermatitis oboInOwl:hasDbXref UMLS:C0001197 semapv:UnspecifiedMatching DOID:2722 acrodermatitis skos:exactMatch MESH:D000169 semapv:UnspecifiedMatching DOID:2723 dermatitis oboInOwl:hasDbXref ICD10CM:L30.9 semapv:UnspecifiedMatching DOID:2723 dermatitis oboInOwl:hasDbXref MESH:D003872 semapv:UnspecifiedMatching DOID:2723 dermatitis oboInOwl:hasDbXref NCI:C2983 semapv:UnspecifiedMatching -DOID:2723 dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011603 semapv:UnspecifiedMatching +DOID:2723 dermatitis oboInOwl:hasDbXref UMLS:C0011603 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref ICD10CM:Q82.5 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref ICDO:9131/0 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref MESH:D018324 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref NCI:C7457 semapv:UnspecifiedMatching -DOID:2725 capillary hemangioma oboInOwl:hasDbXref UMLS_CUI:C0206733 semapv:UnspecifiedMatching +DOID:2725 capillary hemangioma oboInOwl:hasDbXref UMLS:C0206733 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref GARD:10905 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref NCI:C111802 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref OMIMPS:127550 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref ORDO:1775 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref UMLS_CUI:C0265965 semapv:UnspecifiedMatching +DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref UMLS:C0265965 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita skos:exactMatch OMIMPS:127550 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref GARD:6359 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref ICD10CM:Q81 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref MESH:D004820 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref NCI:C67383 semapv:UnspecifiedMatching -DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref UMLS_CUI:C0014527 semapv:UnspecifiedMatching +DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0014527 semapv:UnspecifiedMatching DOID:2731 vesiculobullous skin disease oboInOwl:hasDbXref MESH:D012872 semapv:UnspecifiedMatching -DOID:2731 vesiculobullous skin disease oboInOwl:hasDbXref UMLS_CUI:C0037275 semapv:UnspecifiedMatching +DOID:2731 vesiculobullous skin disease oboInOwl:hasDbXref UMLS:C0037275 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref GARD:4392 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref NCI:C3335 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching -DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS_CUI:C0032339 semapv:UnspecifiedMatching +DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS:C0032339 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome skos:exactMatch MESH:D011038 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 semapv:UnspecifiedMatching DOID:2733 skin atrophy oboInOwl:hasDbXref ICD10CM:L90 semapv:UnspecifiedMatching DOID:2733 skin atrophy oboInOwl:hasDbXref NCI:C35163 semapv:UnspecifiedMatching -DOID:2733 skin atrophy oboInOwl:hasDbXref UMLS_CUI:C0151514 semapv:UnspecifiedMatching +DOID:2733 skin atrophy oboInOwl:hasDbXref UMLS:C0151514 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref ICD10CM:E50.8 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref MESH:D007644 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref NCI:C84665 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching -DOID:2734 keratosis follicularis oboInOwl:hasDbXref UMLS_CUI:C0022595 semapv:UnspecifiedMatching +DOID:2734 keratosis follicularis oboInOwl:hasDbXref UMLS:C0022595 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis skos:exactMatch OMIM:124200 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref GARD:508 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D030981 semapv:UnspecifiedMatching @@ -26549,8 +26860,8 @@ DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D031845 semapv:Unspecifi DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C35545 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C84745 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS_CUI:C0917715 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS_CUI:C0917990 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS:C0917715 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS:C0917990 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome skos:exactMatch OMIM:102500 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref GARD:9643 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 semapv:UnspecifiedMatching @@ -26558,219 +26869,219 @@ DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref NCI:C85036 semapv:Unspecif DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:177850 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref ORDO:758 semapv:UnspecifiedMatching -DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS_CUI:C0033847 semapv:UnspecifiedMatching +DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C0033847 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref GARD:6507 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref ICD10CM:E80.4 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref MESH:D005878 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref NCI:C84729 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref OMIM:143500 semapv:UnspecifiedMatching -DOID:2739 Gilbert syndrome oboInOwl:hasDbXref UMLS_CUI:C0017551 semapv:UnspecifiedMatching +DOID:2739 Gilbert syndrome oboInOwl:hasDbXref UMLS:C0017551 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome skos:exactMatch OMIM:143500 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref MESH:D006932 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref MESH:D006933 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref NCI:C84761 semapv:UnspecifiedMatching -DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0020433 semapv:UnspecifiedMatching -DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0020435 semapv:UnspecifiedMatching +DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS:C0020433 semapv:UnspecifiedMatching +DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS:C0020435 semapv:UnspecifiedMatching DOID:2742 auditory system disease oboInOwl:hasDbXref ICD10CM:H93.9 semapv:UnspecifiedMatching DOID:2742 auditory system disease oboInOwl:hasDbXref ICD9CM:388.9 semapv:UnspecifiedMatching DOID:2742 auditory system disease oboInOwl:hasDbXref MESH:D004427 semapv:UnspecifiedMatching DOID:2742 auditory system disease oboInOwl:hasDbXref NCI:C26757 semapv:UnspecifiedMatching -DOID:2742 auditory system disease oboInOwl:hasDbXref UMLS_CUI:C0013447 semapv:UnspecifiedMatching +DOID:2742 auditory system disease oboInOwl:hasDbXref UMLS:C0013447 semapv:UnspecifiedMatching DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref ICD10CM:N28.85 semapv:UnspecifiedMatching DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref ICD9CM:590.3 semapv:UnspecifiedMatching -DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref UMLS_CUI:C0156254 semapv:UnspecifiedMatching +DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref UMLS:C0156254 semapv:UnspecifiedMatching DOID:2744 pyelitis oboInOwl:hasDbXref ICD10CM:N12 semapv:UnspecifiedMatching DOID:2744 pyelitis oboInOwl:hasDbXref MESH:D011702 semapv:UnspecifiedMatching DOID:2744 pyelitis oboInOwl:hasDbXref NCI:C34964 semapv:UnspecifiedMatching -DOID:2744 pyelitis oboInOwl:hasDbXref UMLS_CUI:C0034183 semapv:UnspecifiedMatching +DOID:2744 pyelitis oboInOwl:hasDbXref UMLS:C0034183 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref ICD10CM:F60.81 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref ICD9CM:301.81 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref MESH:D010554 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref NCI:C92635 semapv:UnspecifiedMatching -DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref UMLS_CUI:C0027402 semapv:UnspecifiedMatching +DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref UMLS:C0027402 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref GARD:6528 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref ICD10CM:E74.04 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref MESH:D006012 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref NCI:C84738 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref OMIM:232600 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref ORDO:368 semapv:UnspecifiedMatching -DOID:2746 glycogen storage disease V oboInOwl:hasDbXref UMLS_CUI:C0017924 semapv:UnspecifiedMatching +DOID:2746 glycogen storage disease V oboInOwl:hasDbXref UMLS:C0017924 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V skos:exactMatch OMIM:232600 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD9CM:271.0 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref MESH:D006008 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref NCI:C61272 semapv:UnspecifiedMatching -DOID:2747 glycogen storage disease oboInOwl:hasDbXref UMLS_CUI:C0017919 semapv:UnspecifiedMatching +DOID:2747 glycogen storage disease oboInOwl:hasDbXref UMLS:C0017919 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref ICD10CM:E74.03 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref MESH:D006010 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref NCI:C84736 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref OMIM:232400 semapv:UnspecifiedMatching -DOID:2748 glycogen storage disease III oboInOwl:hasDbXref UMLS_CUI:C0017922 semapv:UnspecifiedMatching +DOID:2748 glycogen storage disease III oboInOwl:hasDbXref UMLS:C0017922 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III skos:exactMatch OMIM:232400 semapv:UnspecifiedMatching DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref GARD:7864 semapv:UnspecifiedMatching DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref ORDO:79258 semapv:UnspecifiedMatching DOID:2749 glycogen storage disease Ia skos:exactMatch OMIM:232200 semapv:UnspecifiedMatching DOID:275 gastric hemangioma oboInOwl:hasDbXref NCI:C5481 semapv:UnspecifiedMatching -DOID:275 gastric hemangioma oboInOwl:hasDbXref UMLS_CUI:C1333770 semapv:UnspecifiedMatching +DOID:275 gastric hemangioma oboInOwl:hasDbXref UMLS:C1333770 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref GARD:2520 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref MESH:D006011 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref NCI:C84737 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref UMLS_CUI:C0017923 semapv:UnspecifiedMatching +DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref UMLS:C0017923 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV skos:exactMatch OMIM:232500 semapv:UnspecifiedMatching DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref MESH:D006015 semapv:UnspecifiedMatching -DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref UMLS_CUI:C0017927 semapv:UnspecifiedMatching +DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref UMLS:C0017927 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref GARD:5714 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref ICD10CM:E74.02 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref MESH:D006009 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref NCI:C84734 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching -DOID:2752 glycogen storage disease II oboInOwl:hasDbXref UMLS_CUI:C0017921 semapv:UnspecifiedMatching +DOID:2752 glycogen storage disease II oboInOwl:hasDbXref UMLS:C0017921 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II skos:exactMatch OMIM:232300 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref MESH:D006013 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref NCI:C126875 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref OMIM:232700 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ORDO:369 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref UMLS_CUI:C0017925 semapv:UnspecifiedMatching +DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref UMLS:C0017925 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI skos:exactMatch OMIM:232700 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref GARD:7123 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref MESH:D015270 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref NCI:C36197 semapv:UnspecifiedMatching -DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref UMLS_CUI:C0026916 semapv:UnspecifiedMatching +DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref UMLS:C0026916 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease skos:exactMatch MESH:D015270 semapv:UnspecifiedMatching DOID:2762 bone carcinoma oboInOwl:hasDbXref NCI:C36082 semapv:UnspecifiedMatching -DOID:2762 bone carcinoma oboInOwl:hasDbXref UMLS_CUI:C0700110 semapv:UnspecifiedMatching +DOID:2762 bone carcinoma oboInOwl:hasDbXref UMLS:C0700110 semapv:UnspecifiedMatching DOID:2763 ethmoid sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6065 semapv:UnspecifiedMatching -DOID:2763 ethmoid sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333477 semapv:UnspecifiedMatching +DOID:2763 ethmoid sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333477 semapv:UnspecifiedMatching DOID:2764 ethmoid sinus adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6238 semapv:UnspecifiedMatching -DOID:2764 ethmoid sinus adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333473 semapv:UnspecifiedMatching +DOID:2764 ethmoid sinus adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1333473 semapv:UnspecifiedMatching DOID:2766 ethmoid sinus adenocarcinoma oboInOwl:hasDbXref NCI:C6237 semapv:UnspecifiedMatching -DOID:2766 ethmoid sinus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333472 semapv:UnspecifiedMatching +DOID:2766 ethmoid sinus adenocarcinoma oboInOwl:hasDbXref UMLS:C1333472 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref ICD10CM:F95.0 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref ICD9CM:307.21 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref NCI:C116767 semapv:UnspecifiedMatching -DOID:2768 transient tic disorder oboInOwl:hasDbXref UMLS_CUI:C0040702 semapv:UnspecifiedMatching +DOID:2768 transient tic disorder oboInOwl:hasDbXref UMLS:C0040702 semapv:UnspecifiedMatching DOID:2769 tic disorder oboInOwl:hasDbXref ICD10CM:F95 semapv:UnspecifiedMatching DOID:2769 tic disorder oboInOwl:hasDbXref ICD9CM:307.20 semapv:UnspecifiedMatching DOID:2769 tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching -DOID:2769 tic disorder oboInOwl:hasDbXref UMLS_CUI:C0040188 semapv:UnspecifiedMatching +DOID:2769 tic disorder oboInOwl:hasDbXref UMLS:C0040188 semapv:UnspecifiedMatching DOID:277 chorioangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:277 chorioangioma oboInOwl:hasDbXref NCI:C4868 semapv:UnspecifiedMatching -DOID:277 chorioangioma oboInOwl:hasDbXref UMLS_CUI:C0677608 semapv:UnspecifiedMatching +DOID:277 chorioangioma oboInOwl:hasDbXref UMLS:C0677608 semapv:UnspecifiedMatching DOID:2770 obsolete diaper rash oboInOwl:hasDbXref ICD10CM:L22 semapv:UnspecifiedMatching DOID:2770 obsolete diaper rash oboInOwl:hasDbXref ICD9CM:691.0 semapv:UnspecifiedMatching DOID:2770 obsolete diaper rash oboInOwl:hasDbXref MESH:D003963 semapv:UnspecifiedMatching DOID:2770 obsolete diaper rash oboInOwl:hasDbXref NCI:C111886 semapv:UnspecifiedMatching -DOID:2770 obsolete diaper rash oboInOwl:hasDbXref UMLS_CUI:C0011974 semapv:UnspecifiedMatching +DOID:2770 obsolete diaper rash oboInOwl:hasDbXref UMLS:C0011974 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref ICD10CM:L24.9 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref MESH:D017453 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref NCI:C27151 semapv:UnspecifiedMatching -DOID:2772 irritant dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162823 semapv:UnspecifiedMatching +DOID:2772 irritant dermatitis oboInOwl:hasDbXref UMLS:C0162823 semapv:UnspecifiedMatching DOID:2773 contact dermatitis oboInOwl:hasDbXref ICD10CM:L25.9 semapv:UnspecifiedMatching DOID:2773 contact dermatitis oboInOwl:hasDbXref MESH:D003877 semapv:UnspecifiedMatching DOID:2773 contact dermatitis oboInOwl:hasDbXref NCI:C26743 semapv:UnspecifiedMatching -DOID:2773 contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011616 semapv:UnspecifiedMatching +DOID:2773 contact dermatitis oboInOwl:hasDbXref UMLS:C0011616 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref NCI:C7644 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching -DOID:2775 long bone adamantinoma oboInOwl:hasDbXref UMLS_CUI:C0334556 semapv:UnspecifiedMatching +DOID:2775 long bone adamantinoma oboInOwl:hasDbXref UMLS:C0334556 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma skos:exactMatch OMIM:102660 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref NCI:C7644 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref ORDO:55881 semapv:UnspecifiedMatching -DOID:2776 adamantinoma oboInOwl:hasDbXref UMLS_CUI:C0334556 semapv:UnspecifiedMatching +DOID:2776 adamantinoma oboInOwl:hasDbXref UMLS:C0334556 semapv:UnspecifiedMatching DOID:2776 adamantinoma skos:exactMatch MESH:D050398 semapv:UnspecifiedMatching DOID:2780 rectosigmoid junction neoplasm oboInOwl:hasDbXref NCI:C4877 semapv:UnspecifiedMatching -DOID:2780 rectosigmoid junction neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345873 semapv:UnspecifiedMatching +DOID:2780 rectosigmoid junction neoplasm oboInOwl:hasDbXref UMLS:C0345873 semapv:UnspecifiedMatching DOID:2781 rectosigmoid cancer oboInOwl:hasDbXref NCI:C7421 semapv:UnspecifiedMatching -DOID:2781 rectosigmoid cancer oboInOwl:hasDbXref UMLS_CUI:C1327709 semapv:UnspecifiedMatching +DOID:2781 rectosigmoid cancer oboInOwl:hasDbXref UMLS:C1327709 semapv:UnspecifiedMatching DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref ICD10CM:C19 semapv:UnspecifiedMatching DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref ICD9CM:154.0 semapv:UnspecifiedMatching DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref NCI:C7420 semapv:UnspecifiedMatching -DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref UMLS_CUI:C0153443 semapv:UnspecifiedMatching +DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref UMLS:C0153443 semapv:UnspecifiedMatching DOID:2784 lung sarcoma oboInOwl:hasDbXref NCI:C4860 semapv:UnspecifiedMatching -DOID:2784 lung sarcoma oboInOwl:hasDbXref UMLS_CUI:C0598790 semapv:UnspecifiedMatching +DOID:2784 lung sarcoma oboInOwl:hasDbXref UMLS:C0598790 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref GARD:6242 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref ICD10CM:Q03.1 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref MESH:D003616 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref NCI:C75012 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref OMIM:220200 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref UMLS_CUI:C0010964 semapv:UnspecifiedMatching +DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref UMLS:C0010964 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome skos:exactMatch OMIM:220200 semapv:UnspecifiedMatching DOID:2786 cerebellar disease oboInOwl:hasDbXref MESH:D002526 semapv:UnspecifiedMatching -DOID:2786 cerebellar disease oboInOwl:hasDbXref UMLS_CUI:C0007760 semapv:UnspecifiedMatching +DOID:2786 cerebellar disease oboInOwl:hasDbXref UMLS:C0007760 semapv:UnspecifiedMatching DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref ICD10CM:B64 semapv:UnspecifiedMatching DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref MESH:D011528 semapv:UnspecifiedMatching DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref NCI:C34953 semapv:UnspecifiedMatching -DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref UMLS_CUI:C0033740 semapv:UnspecifiedMatching +DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref UMLS:C0033740 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref ICD10CM:B76.1 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref MESH:D009332 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref NCI:C34838 semapv:UnspecifiedMatching -DOID:2790 necatoriasis oboInOwl:hasDbXref UMLS_CUI:C0027528 semapv:UnspecifiedMatching +DOID:2790 necatoriasis oboInOwl:hasDbXref UMLS:C0027528 semapv:UnspecifiedMatching DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84.114 semapv:UnspecifiedMatching DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref MESH:D000080203 semapv:UnspecifiedMatching -DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C0085786 semapv:UnspecifiedMatching +DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS:C0085786 semapv:UnspecifiedMatching DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref GARD:9551 semapv:UnspecifiedMatching DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref MESH:D001989 semapv:UnspecifiedMatching DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref NCI:C62580 semapv:UnspecifiedMatching -DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref UMLS_CUI:C0006272 semapv:UnspecifiedMatching +DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref UMLS:C0006272 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref ICD10CM:E34.9 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref ICD9CM:259.9 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref MESH:D004700 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref NCI:C3009 semapv:UnspecifiedMatching -DOID:28 endocrine system disease oboInOwl:hasDbXref UMLS_CUI:C0014130 semapv:UnspecifiedMatching +DOID:28 endocrine system disease oboInOwl:hasDbXref UMLS:C0014130 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref GARD:12835 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84.114 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref ICD9CM:516.33 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref NCI:C35806 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref ORDO:79126 semapv:UnspecifiedMatching -DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C1279945 semapv:UnspecifiedMatching +DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref UMLS:C1279945 semapv:UnspecifiedMatching DOID:2801 nonspecific interstitial pneumonia oboInOwl:hasDbXref NCI:C35717 semapv:UnspecifiedMatching -DOID:2801 nonspecific interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C1290344 semapv:UnspecifiedMatching +DOID:2801 nonspecific interstitial pneumonia oboInOwl:hasDbXref UMLS:C1290344 semapv:UnspecifiedMatching DOID:2810 middle lobe syndrome oboInOwl:hasDbXref MESH:D008878 semapv:UnspecifiedMatching -DOID:2810 middle lobe syndrome oboInOwl:hasDbXref UMLS_CUI:C0026069 semapv:UnspecifiedMatching +DOID:2810 middle lobe syndrome oboInOwl:hasDbXref UMLS:C0026069 semapv:UnspecifiedMatching DOID:2810 middle lobe syndrome skos:exactMatch MESH:D008878 semapv:UnspecifiedMatching DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref ICD10CM:C72.4 semapv:UnspecifiedMatching DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref NCI:C4539 semapv:UnspecifiedMatching -DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref UMLS_CUI:C0346331 semapv:UnspecifiedMatching +DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref UMLS:C0346331 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref ICD10CM:C72.50 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref ICD9CM:192.0 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref MESH:D003390 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref NCI:C2963 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref NCI:C3571 semapv:UnspecifiedMatching -DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0010267 semapv:UnspecifiedMatching -DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153644 semapv:UnspecifiedMatching +DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS:C0010267 semapv:UnspecifiedMatching +DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS:C0153644 semapv:UnspecifiedMatching DOID:2816 malignant oculomotor nerve tumor oboInOwl:hasDbXref NCI:C6995 semapv:UnspecifiedMatching -DOID:2816 malignant oculomotor nerve tumor oboInOwl:hasDbXref UMLS_CUI:C0686417 semapv:UnspecifiedMatching +DOID:2816 malignant oculomotor nerve tumor oboInOwl:hasDbXref UMLS:C0686417 semapv:UnspecifiedMatching DOID:2817 cranial nerve III tumor oboInOwl:hasDbXref NCI:C6994 semapv:UnspecifiedMatching -DOID:2817 cranial nerve III tumor oboInOwl:hasDbXref UMLS_CUI:C1263895 semapv:UnspecifiedMatching +DOID:2817 cranial nerve III tumor oboInOwl:hasDbXref UMLS:C1263895 semapv:UnspecifiedMatching DOID:2825 nose disease oboInOwl:hasDbXref MESH:D009668 semapv:UnspecifiedMatching -DOID:2825 nose disease oboInOwl:hasDbXref UMLS_CUI:C0028432 semapv:UnspecifiedMatching +DOID:2825 nose disease oboInOwl:hasDbXref UMLS:C0028432 semapv:UnspecifiedMatching DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref MESH:D042101 semapv:UnspecifiedMatching DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref NCI:C35578 semapv:UnspecifiedMatching -DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0267841 semapv:UnspecifiedMatching +DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref UMLS:C0267841 semapv:UnspecifiedMatching DOID:2828 acalculous cholecystitis skos:exactMatch MESH:D042101 semapv:UnspecifiedMatching DOID:2832 geotrichosis oboInOwl:hasDbXref ICD10CM:B48.3 semapv:UnspecifiedMatching DOID:2832 geotrichosis oboInOwl:hasDbXref MESH:D005847 semapv:UnspecifiedMatching -DOID:2832 geotrichosis oboInOwl:hasDbXref UMLS_CUI:C0017455 semapv:UnspecifiedMatching +DOID:2832 geotrichosis oboInOwl:hasDbXref UMLS:C0017455 semapv:UnspecifiedMatching DOID:2833 dehydration polycythemia oboInOwl:hasDbXref NCI:C27310 semapv:UnspecifiedMatching -DOID:2833 dehydration polycythemia oboInOwl:hasDbXref UMLS_CUI:C0856815 semapv:UnspecifiedMatching +DOID:2833 dehydration polycythemia oboInOwl:hasDbXref UMLS:C0856815 semapv:UnspecifiedMatching DOID:2834 acquired polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2834 acquired polycythemia oboInOwl:hasDbXref ICD9CM:289.0 semapv:UnspecifiedMatching DOID:2834 acquired polycythemia oboInOwl:hasDbXref NCI:C27178 semapv:UnspecifiedMatching -DOID:2834 acquired polycythemia oboInOwl:hasDbXref UMLS_CUI:C1318533 semapv:UnspecifiedMatching +DOID:2834 acquired polycythemia oboInOwl:hasDbXref UMLS:C1318533 semapv:UnspecifiedMatching DOID:2835 polycythemia due to hypoxia oboInOwl:hasDbXref NCI:C27312 semapv:UnspecifiedMatching -DOID:2835 polycythemia due to hypoxia oboInOwl:hasDbXref UMLS_CUI:C0856818 semapv:UnspecifiedMatching +DOID:2835 polycythemia due to hypoxia oboInOwl:hasDbXref UMLS:C0856818 semapv:UnspecifiedMatching DOID:2838 stress polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2838 stress polycythemia oboInOwl:hasDbXref NCI:C27174 semapv:UnspecifiedMatching -DOID:2838 stress polycythemia oboInOwl:hasDbXref UMLS_CUI:C0541719 semapv:UnspecifiedMatching +DOID:2838 stress polycythemia oboInOwl:hasDbXref UMLS:C0541719 semapv:UnspecifiedMatching DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref NCI:C35434 semapv:UnspecifiedMatching -DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref UMLS_CUI:C0391869 semapv:UnspecifiedMatching +DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref UMLS:C0391869 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref EFO:0000270 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref GARD:10246 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching @@ -26779,7 +27090,7 @@ DOID:2841 asthma oboInOwl:hasDbXref KEGG:05310 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref MESH:D001249 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref NCI:C28397 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref OMIM:600807 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref UMLS_CUI:C0004096 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref UMLS:C0004096 semapv:UnspecifiedMatching DOID:2841 asthma skos:exactMatch MESH:D001249 semapv:UnspecifiedMatching DOID:2841 asthma skos:exactMatch OMIM:600807 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref GARD:3048 semapv:UnspecifiedMatching @@ -26787,7 +27098,7 @@ DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv: DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref NCI:C84793 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref UMLS_CUI:C0022387 semapv:UnspecifiedMatching +DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref GARD:6922 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD10CM:I45.81 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD9CM:426.82 semapv:UnspecifiedMatching @@ -26796,7 +27107,7 @@ DOID:2843 long QT syndrome oboInOwl:hasDbXref NCI:C34786 semapv:UnspecifiedMatch DOID:2843 long QT syndrome oboInOwl:hasDbXref OMIMPS:192500 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:101016 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:768 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref UMLS_CUI:C0023976 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref UMLS:C0023976 semapv:UnspecifiedMatching DOID:2843 long QT syndrome skos:exactMatch OMIMPS:192500 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:F45.8 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:G47.63 semapv:UnspecifiedMatching @@ -26804,153 +27115,153 @@ DOID:2846 bruxism oboInOwl:hasDbXref ICD9CM:327.53 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref MESH:D002012 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref MESH:D020186 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref NCI:C73511 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref UMLS_CUI:C0006325 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref UMLS_CUI:C0393774 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref UMLS:C0006325 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref UMLS:C0393774 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref GARD:6560 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICD10CM:C91.4 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICD9CM:202.4 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICDO:9940/3 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref MESH:D007943 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref NCI:C7402 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023443 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref UMLS:C0023443 semapv:UnspecifiedMatching DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref MESH:D006981 semapv:UnspecifiedMatching DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref NCI:C131850 semapv:UnspecifiedMatching -DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref UMLS_CUI:C0020551 semapv:UnspecifiedMatching +DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref UMLS:C0020551 semapv:UnspecifiedMatching DOID:2855 hyperthyroxinemia skos:exactMatch MESH:D006981 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref ICD10CM:E07.81 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref ICD9CM:790.94 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref MESH:D005067 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref NCI:C113170 semapv:UnspecifiedMatching -DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref UMLS_CUI:C0015190 semapv:UnspecifiedMatching +DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref UMLS:C0015190 semapv:UnspecifiedMatching DOID:2859 hemoglobin C disease oboInOwl:hasDbXref GARD:2640 semapv:UnspecifiedMatching DOID:2859 hemoglobin C disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:2859 hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 semapv:UnspecifiedMatching DOID:2859 hemoglobin C disease oboInOwl:hasDbXref NCI:C34675 semapv:UnspecifiedMatching -DOID:2859 hemoglobin C disease oboInOwl:hasDbXref UMLS_CUI:C0019021 semapv:UnspecifiedMatching +DOID:2859 hemoglobin C disease oboInOwl:hasDbXref UMLS:C0019021 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref GARD:12455 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref MESH:D006453 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref NCI:C3092 semapv:UnspecifiedMatching -DOID:2860 hemoglobinopathy oboInOwl:hasDbXref UMLS_CUI:C0019045 semapv:UnspecifiedMatching +DOID:2860 hemoglobinopathy oboInOwl:hasDbXref UMLS:C0019045 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref MESH:D000746 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:206300 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:206400 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:300908 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref ORDO:712 semapv:UnspecifiedMatching -DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002882 semapv:UnspecifiedMatching +DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref UMLS:C0002882 semapv:UnspecifiedMatching DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref GARD:6520 semapv:UnspecifiedMatching DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref MESH:D005955 semapv:UnspecifiedMatching DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref NCI:C98933 semapv:UnspecifiedMatching -DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C2939465 semapv:UnspecifiedMatching +DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C2939465 semapv:UnspecifiedMatching DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C6287 semapv:UnspecifiedMatching DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C6290 semapv:UnspecifiedMatching DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C7359 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279763 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1153706 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336905 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS:C0279763 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS:C1153706 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS:C1336905 semapv:UnspecifiedMatching DOID:2871 endometrial carcinoma oboInOwl:hasDbXref MESH:D016889 semapv:UnspecifiedMatching DOID:2871 endometrial carcinoma oboInOwl:hasDbXref MESH:D018269 semapv:UnspecifiedMatching DOID:2871 endometrial carcinoma oboInOwl:hasDbXref NCI:C7558 semapv:UnspecifiedMatching -DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206687 semapv:UnspecifiedMatching -DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0476089 semapv:UnspecifiedMatching +DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS:C0206687 semapv:UnspecifiedMatching +DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS:C0476089 semapv:UnspecifiedMatching DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref NCI:C4044 semapv:UnspecifiedMatching -DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280324 semapv:UnspecifiedMatching +DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0280324 semapv:UnspecifiedMatching DOID:2877 larynx sarcoma oboInOwl:hasDbXref NCI:C6020 semapv:UnspecifiedMatching -DOID:2877 larynx sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334377 semapv:UnspecifiedMatching +DOID:2877 larynx sarcoma oboInOwl:hasDbXref UMLS:C1334377 semapv:UnspecifiedMatching DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref ICD10CM:H18.45 semapv:UnspecifiedMatching DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref ICD9CM:371.46 semapv:UnspecifiedMatching -DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref UMLS_CUI:C0155122 semapv:UnspecifiedMatching +DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref UMLS:C0155122 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref ICD10CM:N80.0 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref ICD9CM:617.0 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref OMIM:600458 semapv:UnspecifiedMatching -DOID:288 endometriosis of uterus oboInOwl:hasDbXref UMLS_CUI:C0341858 semapv:UnspecifiedMatching +DOID:288 endometriosis of uterus oboInOwl:hasDbXref UMLS:C0341858 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus skos:exactMatch OMIM:600458 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref MESH:D011470 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref NCI:C4795 semapv:UnspecifiedMatching -DOID:2883 prostatic adenoma oboInOwl:hasDbXref UMLS_CUI:C0520477 semapv:UnspecifiedMatching +DOID:2883 prostatic adenoma oboInOwl:hasDbXref UMLS:C0520477 semapv:UnspecifiedMatching DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref NCI:C5532 semapv:UnspecifiedMatching DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref NCI:C7574 semapv:UnspecifiedMatching -DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1332535 semapv:UnspecifiedMatching -DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1335409 semapv:UnspecifiedMatching +DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref UMLS:C1332535 semapv:UnspecifiedMatching +DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref UMLS:C1335409 semapv:UnspecifiedMatching DOID:2887 prostate leiomyoma oboInOwl:hasDbXref NCI:C5544 semapv:UnspecifiedMatching -DOID:2887 prostate leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335510 semapv:UnspecifiedMatching +DOID:2887 prostate leiomyoma oboInOwl:hasDbXref UMLS:C1335510 semapv:UnspecifiedMatching DOID:2889 retrocochlear disease oboInOwl:hasDbXref MESH:D012181 semapv:UnspecifiedMatching -DOID:2889 retrocochlear disease oboInOwl:hasDbXref UMLS_CUI:C0035352 semapv:UnspecifiedMatching +DOID:2889 retrocochlear disease oboInOwl:hasDbXref UMLS:C0035352 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref EFO:0001065 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref ICD10CM:N80 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref ICD9CM:617 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref MESH:D004715 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref NCI:C3014 semapv:UnspecifiedMatching -DOID:289 endometriosis oboInOwl:hasDbXref UMLS_CUI:C0014175 semapv:UnspecifiedMatching +DOID:289 endometriosis oboInOwl:hasDbXref UMLS:C0014175 semapv:UnspecifiedMatching DOID:2891 thyroid adenoma oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching DOID:2891 thyroid adenoma oboInOwl:hasDbXref NCI:C3502 semapv:UnspecifiedMatching -DOID:2891 thyroid adenoma oboInOwl:hasDbXref UMLS_CUI:C0151468 semapv:UnspecifiedMatching +DOID:2891 thyroid adenoma oboInOwl:hasDbXref UMLS:C0151468 semapv:UnspecifiedMatching DOID:2892 exocervical carcinoma oboInOwl:hasDbXref NCI:C7453 semapv:UnspecifiedMatching -DOID:2892 exocervical carcinoma oboInOwl:hasDbXref UMLS_CUI:C1299238 semapv:UnspecifiedMatching +DOID:2892 exocervical carcinoma oboInOwl:hasDbXref UMLS:C1299238 semapv:UnspecifiedMatching DOID:2893 cervix carcinoma oboInOwl:hasDbXref NCI:C9039 semapv:UnspecifiedMatching -DOID:2893 cervix carcinoma oboInOwl:hasDbXref UMLS_CUI:C0302592 semapv:UnspecifiedMatching +DOID:2893 cervix carcinoma oboInOwl:hasDbXref UMLS:C0302592 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref GARD:6540 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref NCI:C84740 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ORDO:374 semapv:UnspecifiedMatching -DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref UMLS_CUI:C0265240 semapv:UnspecifiedMatching +DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref UMLS:C0265240 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome skos:exactMatch OMIM:164210 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref GARD:9124 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref ICD10CM:Q75.4 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref MESH:D008342 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref NCI:C75018 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref OMIMPS:154500 semapv:UnspecifiedMatching -DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref UMLS_CUI:C0242387 semapv:UnspecifiedMatching +DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref UMLS:C0242387 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome skos:exactMatch MESH:D008342 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome skos:exactMatch OMIMPS:154500 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref ICD10CM:K85 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref ICD9CM:577.0 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref MESH:D010195 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref NCI:C95437 semapv:UnspecifiedMatching -DOID:2913 acute pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0001339 semapv:UnspecifiedMatching +DOID:2913 acute pancreatitis oboInOwl:hasDbXref UMLS:C0001339 semapv:UnspecifiedMatching DOID:2914 immune system disease oboInOwl:hasDbXref EFO:0000540 semapv:UnspecifiedMatching DOID:2914 immune system disease oboInOwl:hasDbXref ICD10CM:D89.9 semapv:UnspecifiedMatching DOID:2914 immune system disease oboInOwl:hasDbXref ICD9CM:279.9 semapv:UnspecifiedMatching -DOID:2914 immune system disease oboInOwl:hasDbXref UMLS_CUI:C0041806 semapv:UnspecifiedMatching +DOID:2914 immune system disease oboInOwl:hasDbXref UMLS:C0041806 semapv:UnspecifiedMatching DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref ICD10CM:C88.9 semapv:UnspecifiedMatching DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref MESH:D007160 semapv:UnspecifiedMatching -DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref UMLS_CUI:C0021070 semapv:UnspecifiedMatching +DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref UMLS:C0021070 semapv:UnspecifiedMatching DOID:2917 cryoglobulinemia oboInOwl:hasDbXref GARD:6217 semapv:UnspecifiedMatching DOID:2917 cryoglobulinemia oboInOwl:hasDbXref ICD10CM:D89.1 semapv:UnspecifiedMatching DOID:2917 cryoglobulinemia oboInOwl:hasDbXref MESH:D003449 semapv:UnspecifiedMatching DOID:2917 cryoglobulinemia oboInOwl:hasDbXref NCI:C26736 semapv:UnspecifiedMatching -DOID:2917 cryoglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0010403 semapv:UnspecifiedMatching +DOID:2917 cryoglobulinemia oboInOwl:hasDbXref UMLS:C0010403 semapv:UnspecifiedMatching DOID:292 lacrimal system cancer oboInOwl:hasDbXref NCI:C5102 semapv:UnspecifiedMatching -DOID:292 lacrimal system cancer oboInOwl:hasDbXref UMLS_CUI:C1334361 semapv:UnspecifiedMatching +DOID:292 lacrimal system cancer oboInOwl:hasDbXref UMLS:C1334361 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref GARD:11982 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref NCI:C34644 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching -DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017662 semapv:UnspecifiedMatching +DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0017662 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis skos:exactMatch OMIM:305800 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref GARD:6516 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref MESH:D005921 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref NCI:C26784 semapv:UnspecifiedMatching -DOID:2921 glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017658 semapv:UnspecifiedMatching +DOID:2921 glomerulonephritis oboInOwl:hasDbXref UMLS:C0017658 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref MESH:D007715 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref NCI:C84801 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ORDO:90308 semapv:UnspecifiedMatching -DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref UMLS_CUI:C0022739 semapv:UnspecifiedMatching +DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref UMLS:C0022739 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome skos:exactMatch OMIM:149000 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref MESH:D009521 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref NCI:C34849 semapv:UnspecifiedMatching -DOID:2929 Newcastle disease oboInOwl:hasDbXref UMLS_CUI:C0027983 semapv:UnspecifiedMatching +DOID:2929 Newcastle disease oboInOwl:hasDbXref UMLS:C0027983 semapv:UnspecifiedMatching DOID:293 lacrimal gland carcinoma oboInOwl:hasDbXref NCI:C6129 semapv:UnspecifiedMatching -DOID:293 lacrimal gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334358 semapv:UnspecifiedMatching +DOID:293 lacrimal gland carcinoma oboInOwl:hasDbXref UMLS:C1334358 semapv:UnspecifiedMatching DOID:2934 aleutian mink disease oboInOwl:hasDbXref MESH:D000453 semapv:UnspecifiedMatching -DOID:2934 aleutian mink disease oboInOwl:hasDbXref UMLS_CUI:C0002016 semapv:UnspecifiedMatching +DOID:2934 aleutian mink disease oboInOwl:hasDbXref UMLS:C0002016 semapv:UnspecifiedMatching DOID:2934 aleutian mink disease skos:exactMatch MESH:D000453 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref GARD:6035 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref ICD10CM:E70.330 semapv:UnspecifiedMatching @@ -26958,52 +27269,53 @@ DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 semapv:Unspec DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref NCI:C2941 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref ORDO:167 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref UMLS_CUI:C0007965 semapv:UnspecifiedMatching +DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref UMLS:C0007965 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome skos:exactMatch OMIM:214500 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref MESH:D020031 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref NCI:C38759 semapv:UnspecifiedMatching -DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref UMLS_CUI:C0149678 semapv:UnspecifiedMatching +DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref UMLS:C0149678 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease skos:exactMatch MESH:D020031 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease skos:exactMatch NCI:C38759 semapv:UnspecifiedMatching -DOID:2938 Epstein-Barr virus infectious disease skos:exactMatch UMLS_CUI:C0149678 semapv:UnspecifiedMatching +DOID:2938 Epstein-Barr virus infectious disease skos:exactMatch SNOMEDCT_US_2020_03_01:240530001 semapv:UnspecifiedMatching +DOID:2938 Epstein-Barr virus infectious disease skos:exactMatch UMLS:C0149678 semapv:UnspecifiedMatching DOID:294 lacrimal gland cancer oboInOwl:hasDbXref ICD9CM:190.2 semapv:UnspecifiedMatching DOID:294 lacrimal gland cancer oboInOwl:hasDbXref NCI:C3563 semapv:UnspecifiedMatching DOID:294 lacrimal gland cancer oboInOwl:hasDbXref NCI:C4360 semapv:UnspecifiedMatching -DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153627 semapv:UnspecifiedMatching -DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0339124 semapv:UnspecifiedMatching +DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS:C0153627 semapv:UnspecifiedMatching +DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS:C0339124 semapv:UnspecifiedMatching DOID:2942 bronchiolitis oboInOwl:hasDbXref MESH:D001988 semapv:UnspecifiedMatching DOID:2942 bronchiolitis oboInOwl:hasDbXref NCI:C39658 semapv:UnspecifiedMatching -DOID:2942 bronchiolitis oboInOwl:hasDbXref UMLS_CUI:C0006271 semapv:UnspecifiedMatching +DOID:2942 bronchiolitis oboInOwl:hasDbXref UMLS:C0006271 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref GARD:9237 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref ICD10CM:J12.81 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref ICD9CM:079.82 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref MESH:D045169 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref NCI:C85064 semapv:UnspecifiedMatching -DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref UMLS_CUI:C1175175 semapv:UnspecifiedMatching +DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref UMLS:C1175175 semapv:UnspecifiedMatching DOID:295 eye carcinoma oboInOwl:hasDbXref NCI:C6079 semapv:UnspecifiedMatching -DOID:295 eye carcinoma oboInOwl:hasDbXref UMLS_CUI:C0848866 semapv:UnspecifiedMatching +DOID:295 eye carcinoma oboInOwl:hasDbXref UMLS:C0848866 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref ICD10CM:T75.3 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref ICD9CM:994.6 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref MESH:D009041 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref NCI:C34824 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref OMIM:158280 semapv:UnspecifiedMatching -DOID:2951 motion sickness oboInOwl:hasDbXref UMLS_CUI:C0026603 semapv:UnspecifiedMatching +DOID:2951 motion sickness oboInOwl:hasDbXref UMLS:C0026603 semapv:UnspecifiedMatching DOID:2951 motion sickness skos:exactMatch OMIM:158280 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref ICD10CM:H83.9 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref MESH:D007759 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref NCI:C128369 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref NCI:C27166 semapv:UnspecifiedMatching -DOID:2952 inner ear disease oboInOwl:hasDbXref UMLS_CUI:C0022890 semapv:UnspecifiedMatching -DOID:2952 inner ear disease oboInOwl:hasDbXref UMLS_CUI:C0494559 semapv:UnspecifiedMatching +DOID:2952 inner ear disease oboInOwl:hasDbXref UMLS:C0022890 semapv:UnspecifiedMatching +DOID:2952 inner ear disease oboInOwl:hasDbXref UMLS:C0494559 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref ICD10CM:A15 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref ICD9CM:011 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref MESH:D014397 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref NCI:C26899 semapv:UnspecifiedMatching -DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041327 semapv:UnspecifiedMatching +DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref UMLS:C0041327 semapv:UnspecifiedMatching DOID:2959 hyperimmunoglobulin syndrome oboInOwl:hasDbXref NCI:C27579 semapv:UnspecifiedMatching -DOID:2959 hyperimmunoglobulin syndrome oboInOwl:hasDbXref UMLS_CUI:C1334069 semapv:UnspecifiedMatching +DOID:2959 hyperimmunoglobulin syndrome oboInOwl:hasDbXref UMLS:C1334069 semapv:UnspecifiedMatching DOID:296 mixed lacrimal gland cancer oboInOwl:hasDbXref NCI:C6804 semapv:UnspecifiedMatching -DOID:296 mixed lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0346342 semapv:UnspecifiedMatching +DOID:296 mixed lacrimal gland cancer oboInOwl:hasDbXref UMLS:C0346342 semapv:UnspecifiedMatching DOID:2960 photosensitive trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching DOID:2960 photosensitive trichothiodystrophy oboInOwl:hasDbXref NCI:C4924 semapv:UnspecifiedMatching DOID:2962 Cockayne syndrome oboInOwl:hasDbXref GARD:6122 semapv:UnspecifiedMatching @@ -27011,25 +27323,25 @@ DOID:2962 Cockayne syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:Unspecified DOID:2962 Cockayne syndrome oboInOwl:hasDbXref MESH:D003057 semapv:UnspecifiedMatching DOID:2962 Cockayne syndrome oboInOwl:hasDbXref NCI:C9460 semapv:UnspecifiedMatching DOID:2962 Cockayne syndrome oboInOwl:hasDbXref ORDO:191 semapv:UnspecifiedMatching -DOID:2962 Cockayne syndrome oboInOwl:hasDbXref UMLS_CUI:C0009207 semapv:UnspecifiedMatching +DOID:2962 Cockayne syndrome oboInOwl:hasDbXref UMLS:C0009207 semapv:UnspecifiedMatching DOID:2962 Cockayne syndrome skos:exactMatch MESH:D003057 semapv:UnspecifiedMatching DOID:2964 periarthritis oboInOwl:hasDbXref ICD10CM:M77.9 semapv:UnspecifiedMatching DOID:2964 periarthritis oboInOwl:hasDbXref MESH:D010489 semapv:UnspecifiedMatching -DOID:2964 periarthritis oboInOwl:hasDbXref UMLS_CUI:C0031037 semapv:UnspecifiedMatching +DOID:2964 periarthritis oboInOwl:hasDbXref UMLS:C0031037 semapv:UnspecifiedMatching DOID:2965 bursitis oboInOwl:hasDbXref ICD10CM:M71.9 semapv:UnspecifiedMatching DOID:2965 bursitis oboInOwl:hasDbXref MESH:D002062 semapv:UnspecifiedMatching DOID:2965 bursitis oboInOwl:hasDbXref NCI:C94407 semapv:UnspecifiedMatching -DOID:2965 bursitis oboInOwl:hasDbXref UMLS_CUI:C0006444 semapv:UnspecifiedMatching +DOID:2965 bursitis oboInOwl:hasDbXref UMLS:C0006444 semapv:UnspecifiedMatching DOID:297 pleomorphic adenoma carcinoma oboInOwl:hasDbXref NCI:C4397 semapv:UnspecifiedMatching -DOID:297 pleomorphic adenoma carcinoma oboInOwl:hasDbXref UMLS_CUI:C0344460 semapv:UnspecifiedMatching +DOID:297 pleomorphic adenoma carcinoma oboInOwl:hasDbXref UMLS:C0344460 semapv:UnspecifiedMatching DOID:2972 renal artery obstruction oboInOwl:hasDbXref ICD10CM:N28.0 semapv:UnspecifiedMatching DOID:2972 renal artery obstruction oboInOwl:hasDbXref MESH:D012078 semapv:UnspecifiedMatching -DOID:2972 renal artery obstruction oboInOwl:hasDbXref UMLS_CUI:C0035066 semapv:UnspecifiedMatching +DOID:2972 renal artery obstruction oboInOwl:hasDbXref UMLS:C0035066 semapv:UnspecifiedMatching DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref ICD10CM:N17.1 semapv:UnspecifiedMatching DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref MESH:D007673 semapv:UnspecifiedMatching -DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref UMLS_CUI:C0022656 semapv:UnspecifiedMatching +DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref UMLS:C0022656 semapv:UnspecifiedMatching DOID:2975 cystic kidney disease oboInOwl:hasDbXref MESH:D052177 semapv:UnspecifiedMatching -DOID:2975 cystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022679 semapv:UnspecifiedMatching +DOID:2975 cystic kidney disease oboInOwl:hasDbXref UMLS:C0022679 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ICD10CM:E72.53 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ICD10CM:R82.992 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006959 semapv:UnspecifiedMatching @@ -27037,59 +27349,59 @@ DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006960 semapv:Unspecifi DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref NCI:C123158 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref OMIMPS:259900 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ORDO:416 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS_CUI:C0020500 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS_CUI:C0020501 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020500 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020501 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria skos:exactMatch OMIMPS:259900 semapv:UnspecifiedMatching DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref MESH:D002239 semapv:UnspecifiedMatching -DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0007001 semapv:UnspecifiedMatching +DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref UMLS:C0007001 semapv:UnspecifiedMatching DOID:298 lacrimal gland adenocarcinoma oboInOwl:hasDbXref NCI:C4541 semapv:UnspecifiedMatching -DOID:298 lacrimal gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0346341 semapv:UnspecifiedMatching +DOID:298 lacrimal gland adenocarcinoma oboInOwl:hasDbXref UMLS:C0346341 semapv:UnspecifiedMatching DOID:2981 kidney papillary necrosis oboInOwl:hasDbXref MESH:D007681 semapv:UnspecifiedMatching -DOID:2981 kidney papillary necrosis oboInOwl:hasDbXref UMLS_CUI:C0022667 semapv:UnspecifiedMatching +DOID:2981 kidney papillary necrosis oboInOwl:hasDbXref UMLS:C0022667 semapv:UnspecifiedMatching DOID:2982 perinephritis oboInOwl:hasDbXref MESH:D010501 semapv:UnspecifiedMatching -DOID:2982 perinephritis oboInOwl:hasDbXref UMLS_CUI:C0031065 semapv:UnspecifiedMatching +DOID:2982 perinephritis oboInOwl:hasDbXref UMLS:C0031065 semapv:UnspecifiedMatching DOID:2983 anuria oboInOwl:hasDbXref MESH:D001002 semapv:UnspecifiedMatching DOID:2983 anuria oboInOwl:hasDbXref NCI:C114699 semapv:UnspecifiedMatching -DOID:2983 anuria oboInOwl:hasDbXref UMLS_CUI:C0003460 semapv:UnspecifiedMatching +DOID:2983 anuria oboInOwl:hasDbXref UMLS:C0003460 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref EFO:0004194 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref GARD:863 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref MESH:D005922 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref NCI:C34643 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref OMIM:161950 semapv:UnspecifiedMatching -DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017661 semapv:UnspecifiedMatching +DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref UMLS:C0017661 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis skos:exactMatch OMIM:161950 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref GARD:6421 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD9CM:277.31 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref NCI:C84707 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ORDO:342 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref UMLS_CUI:C0031069 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref GARD:6421 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref ICD9CM:277.31 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref NCI:C84707 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref ORDO:342 semapv:UnspecifiedMatching +DOID:2987 familial mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref GARD:5824 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref ICD10CM:D68.61 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref MESH:D016736 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref NCI:C61283 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref OMIM:107320 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref UMLS_CUI:C0085278 semapv:UnspecifiedMatching +DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C0085278 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome skos:exactMatch MESH:D016736 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome skos:exactMatch OMIM:107320 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref ICDO:8140/3 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref NCI:C2852 semapv:UnspecifiedMatching -DOID:299 adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0001418 semapv:UnspecifiedMatching +DOID:299 adenocarcinoma oboInOwl:hasDbXref UMLS:C0001418 semapv:UnspecifiedMatching DOID:299 adenocarcinoma skos:exactMatch MESH:D000230 semapv:UnspecifiedMatching DOID:2992 prostate neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5545 semapv:UnspecifiedMatching -DOID:2992 prostate neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335515 semapv:UnspecifiedMatching +DOID:2992 prostate neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1335515 semapv:UnspecifiedMatching DOID:2994 germ cell cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching DOID:2994 germ cell cancer oboInOwl:hasDbXref NCI:C3708 semapv:UnspecifiedMatching -DOID:2994 germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0205851 semapv:UnspecifiedMatching +DOID:2994 germ cell cancer oboInOwl:hasDbXref UMLS:C0205851 semapv:UnspecifiedMatching DOID:2996 mixed germ cell-sex cord neoplasm oboInOwl:hasDbXref NCI:C5241 semapv:UnspecifiedMatching -DOID:2996 mixed germ cell-sex cord neoplasm oboInOwl:hasDbXref UMLS_CUI:C1321220 semapv:UnspecifiedMatching +DOID:2996 mixed germ cell-sex cord neoplasm oboInOwl:hasDbXref UMLS:C1321220 semapv:UnspecifiedMatching DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref GARD:9967 semapv:UnspecifiedMatching DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref MESH:D018310 semapv:UnspecifiedMatching -DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C0206723 semapv:UnspecifiedMatching +DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref UMLS:C0206723 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref GARD:7746 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref ICD10CM:C62 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref ICD9CM:186 semapv:UnspecifiedMatching @@ -27097,104 +27409,104 @@ DOID:2998 testicular cancer oboInOwl:hasDbXref MESH:D013736 semapv:UnspecifiedMa DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C3404 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C5053 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C7251 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C0039590 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C0153594 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C1333010 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS:C0039590 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS:C0153594 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS:C1333010 semapv:UnspecifiedMatching DOID:2999 granulosa cell tumor oboInOwl:hasDbXref MESH:D006106 semapv:UnspecifiedMatching DOID:2999 granulosa cell tumor oboInOwl:hasDbXref NCI:C3070 semapv:UnspecifiedMatching DOID:2999 granulosa cell tumor oboInOwl:hasDbXref NCI:C4205 semapv:UnspecifiedMatching -DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0018206 semapv:UnspecifiedMatching -DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334401 semapv:UnspecifiedMatching +DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS:C0018206 semapv:UnspecifiedMatching +DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS:C0334401 semapv:UnspecifiedMatching DOID:3001 female reproductive endometrioid cancer oboInOwl:hasDbXref NCI:C7113 semapv:UnspecifiedMatching -DOID:3001 female reproductive endometrioid cancer oboInOwl:hasDbXref UMLS_CUI:C0474809 semapv:UnspecifiedMatching +DOID:3001 female reproductive endometrioid cancer oboInOwl:hasDbXref UMLS:C0474809 semapv:UnspecifiedMatching DOID:3002 ovary neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5237 semapv:UnspecifiedMatching -DOID:3002 ovary neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335172 semapv:UnspecifiedMatching +DOID:3002 ovary neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1335172 semapv:UnspecifiedMatching DOID:3003 nipple benign neoplasm oboInOwl:hasDbXref NCI:C5212 semapv:UnspecifiedMatching -DOID:3003 nipple benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1112166 semapv:UnspecifiedMatching +DOID:3003 nipple benign neoplasm oboInOwl:hasDbXref UMLS:C1112166 semapv:UnspecifiedMatching DOID:3004 breast myoepithelial neoplasm oboInOwl:hasDbXref NCI:C40389 semapv:UnspecifiedMatching -DOID:3004 breast myoepithelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1511319 semapv:UnspecifiedMatching +DOID:3004 breast myoepithelial neoplasm oboInOwl:hasDbXref UMLS:C1511319 semapv:UnspecifiedMatching DOID:3007 breast ductal carcinoma oboInOwl:hasDbXref MESH:D044584 semapv:UnspecifiedMatching -DOID:3007 breast ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1176475 semapv:UnspecifiedMatching +DOID:3007 breast ductal carcinoma oboInOwl:hasDbXref UMLS:C1176475 semapv:UnspecifiedMatching DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref MESH:D018270 semapv:UnspecifiedMatching DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref NCI:C4017 semapv:UnspecifiedMatching DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref NCI:C4194 semapv:UnspecifiedMatching -DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1134719 semapv:UnspecifiedMatching -DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1527349 semapv:UnspecifiedMatching +DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS:C1134719 semapv:UnspecifiedMatching +DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS:C1527349 semapv:UnspecifiedMatching DOID:3009 breast neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5169 semapv:UnspecifiedMatching -DOID:3009 breast neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332635 semapv:UnspecifiedMatching +DOID:3009 breast neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1332635 semapv:UnspecifiedMatching DOID:3010 lobular neoplasia oboInOwl:hasDbXref NCI:C27939 semapv:UnspecifiedMatching -DOID:3010 lobular neoplasia oboInOwl:hasDbXref UMLS_CUI:C0861352 semapv:UnspecifiedMatching +DOID:3010 lobular neoplasia oboInOwl:hasDbXref UMLS:C0861352 semapv:UnspecifiedMatching DOID:3011 breast granular cell tumor oboInOwl:hasDbXref NCI:C40400 semapv:UnspecifiedMatching -DOID:3011 breast granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1511312 semapv:UnspecifiedMatching +DOID:3011 breast granular cell tumor oboInOwl:hasDbXref UMLS:C1511312 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref GARD:6902 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref NCI:C3476 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIMPS:151623 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref ORDO:524 semapv:UnspecifiedMatching -DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS_CUI:C0085390 semapv:UnspecifiedMatching +DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS:C0085390 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome skos:exactMatch OMIMPS:151623 semapv:UnspecifiedMatching DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref NCI:C36083 semapv:UnspecifiedMatching -DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0948967 semapv:UnspecifiedMatching +DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref UMLS:C0948967 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref NCI:C4275 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref NCI:C4504 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref NCI:C7575 semapv:UnspecifiedMatching -DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0238031 semapv:UnspecifiedMatching -DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0346154 semapv:UnspecifiedMatching -DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0600066 semapv:UnspecifiedMatching +DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS:C0238031 semapv:UnspecifiedMatching +DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS:C0346154 semapv:UnspecifiedMatching +DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS:C0600066 semapv:UnspecifiedMatching DOID:3017 breast sarcoma oboInOwl:hasDbXref NCI:C4670 semapv:UnspecifiedMatching -DOID:3017 breast sarcoma oboInOwl:hasDbXref UMLS_CUI:C0349667 semapv:UnspecifiedMatching +DOID:3017 breast sarcoma oboInOwl:hasDbXref UMLS:C0349667 semapv:UnspecifiedMatching DOID:302 substance abuse oboInOwl:hasDbXref MESH:D019966 semapv:UnspecifiedMatching DOID:302 substance abuse oboInOwl:hasDbXref NCI:C16522 semapv:UnspecifiedMatching -DOID:302 substance abuse oboInOwl:hasDbXref UMLS_CUI:C0013146 semapv:UnspecifiedMatching +DOID:302 substance abuse oboInOwl:hasDbXref UMLS:C0013146 semapv:UnspecifiedMatching DOID:3021 acute kidney failure oboInOwl:hasDbXref MESH:D058186 semapv:UnspecifiedMatching DOID:3024 prostatic acinar adenocarcinoma oboInOwl:hasDbXref NCI:C5596 semapv:UnspecifiedMatching -DOID:3024 prostatic acinar adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332139 semapv:UnspecifiedMatching +DOID:3024 prostatic acinar adenocarcinoma oboInOwl:hasDbXref UMLS:C1332139 semapv:UnspecifiedMatching DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref GARD:8568 semapv:UnspecifiedMatching DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref ICDO:8550/3 semapv:UnspecifiedMatching DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref MESH:D018267 semapv:UnspecifiedMatching DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref NCI:C3768 semapv:UnspecifiedMatching -DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206685 semapv:UnspecifiedMatching +DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref UMLS:C0206685 semapv:UnspecifiedMatching DOID:3029 colon mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C7966 semapv:UnspecifiedMatching -DOID:3029 colon mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279639 semapv:UnspecifiedMatching +DOID:3029 colon mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C0279639 semapv:UnspecifiedMatching DOID:303 substance-related disorder oboInOwl:hasDbXref MESH:D019966 semapv:UnspecifiedMatching DOID:303 substance-related disorder oboInOwl:hasDbXref NCI:C92203 semapv:UnspecifiedMatching -DOID:303 substance-related disorder oboInOwl:hasDbXref UMLS_CUI:C0236969 semapv:UnspecifiedMatching +DOID:303 substance-related disorder oboInOwl:hasDbXref UMLS:C0236969 semapv:UnspecifiedMatching DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref ICDO:8480/3 semapv:UnspecifiedMatching DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref MESH:D002288 semapv:UnspecifiedMatching DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C26712 semapv:UnspecifiedMatching DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C27379 semapv:UnspecifiedMatching -DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007130 semapv:UnspecifiedMatching -DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334368 semapv:UnspecifiedMatching +DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C0007130 semapv:UnspecifiedMatching +DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C0334368 semapv:UnspecifiedMatching DOID:3038 submucosal invasive colon adenocarcinoma oboInOwl:hasDbXref NCI:C38760 semapv:UnspecifiedMatching -DOID:3038 submucosal invasive colon adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515024 semapv:UnspecifiedMatching +DOID:3038 submucosal invasive colon adenocarcinoma oboInOwl:hasDbXref UMLS:C1515024 semapv:UnspecifiedMatching DOID:3039 cecum adenocarcinoma oboInOwl:hasDbXref NCI:C5543 semapv:UnspecifiedMatching -DOID:3039 cecum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332866 semapv:UnspecifiedMatching +DOID:3039 cecum adenocarcinoma oboInOwl:hasDbXref UMLS:C1332866 semapv:UnspecifiedMatching DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref ICD10CM:L23 semapv:UnspecifiedMatching DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref MESH:D017449 semapv:UnspecifiedMatching DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref NCI:C26998 semapv:UnspecifiedMatching -DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162820 semapv:UnspecifiedMatching +DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref UMLS:C0162820 semapv:UnspecifiedMatching DOID:3044 food allergy oboInOwl:hasDbXref MESH:D005512 semapv:UnspecifiedMatching DOID:3044 food allergy oboInOwl:hasDbXref NCI:C172304 semapv:UnspecifiedMatching -DOID:3044 food allergy oboInOwl:hasDbXref UMLS_CUI:C0016470 semapv:UnspecifiedMatching +DOID:3044 food allergy oboInOwl:hasDbXref UMLS:C0016470 semapv:UnspecifiedMatching DOID:3047 Wissler-Fanconi syndrome oboInOwl:hasDbXref MESH:D014924 semapv:UnspecifiedMatching -DOID:3047 Wissler-Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0043195 semapv:UnspecifiedMatching +DOID:3047 Wissler-Fanconi syndrome oboInOwl:hasDbXref UMLS:C0043195 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref ICD10CM:M30.1 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref MESH:D015267 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref NCI:C34481 semapv:UnspecifiedMatching -DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref UMLS_CUI:C0008728 semapv:UnspecifiedMatching +DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref UMLS:C0008728 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref ICDO:8010/3 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref MESH:D002277 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref MESH:D009375 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref NCI:C2916 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref NCI:C3709 semapv:UnspecifiedMatching -DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007097 semapv:UnspecifiedMatching -DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C0553707 semapv:UnspecifiedMatching -DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C1368683 semapv:UnspecifiedMatching +DOID:305 carcinoma oboInOwl:hasDbXref UMLS:C0007097 semapv:UnspecifiedMatching +DOID:305 carcinoma oboInOwl:hasDbXref UMLS:C0553707 semapv:UnspecifiedMatching +DOID:305 carcinoma oboInOwl:hasDbXref UMLS:C1368683 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref ICD10CM:N15.0 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref MESH:D001449 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref OMIM:124100 semapv:UnspecifiedMatching -DOID:3052 Balkan nephropathy oboInOwl:hasDbXref UMLS_CUI:C0004698 semapv:UnspecifiedMatching +DOID:3052 Balkan nephropathy oboInOwl:hasDbXref UMLS:C0004698 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy skos:exactMatch OMIM:124100 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.1 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.2 semapv:UnspecifiedMatching @@ -27209,25 +27521,25 @@ DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34894 semapv:UnspecifiedMatc DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34895 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34896 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34897 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0030528 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343375 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343376 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343377 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS:C0030528 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS:C0343375 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS:C0343376 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS:C0343377 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref GARD:2491 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref ICDO:9440/3 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C129295 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C39750 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C9094 semapv:UnspecifiedMatching -DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0017636 semapv:UnspecifiedMatching -DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0278878 semapv:UnspecifiedMatching -DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C1514422 semapv:UnspecifiedMatching +DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS:C0017636 semapv:UnspecifiedMatching +DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS:C0278878 semapv:UnspecifiedMatching +DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS:C1514422 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref ICDO:9400/3 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref NCI:C4951 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref NCI:C60781 semapv:UnspecifiedMatching -DOID:3069 malignant astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0004114 semapv:UnspecifiedMatching -DOID:3069 malignant astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0750935 semapv:UnspecifiedMatching +DOID:3069 malignant astrocytoma oboInOwl:hasDbXref UMLS:C0004114 semapv:UnspecifiedMatching +DOID:3069 malignant astrocytoma oboInOwl:hasDbXref UMLS:C0750935 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma skos:exactMatch MESH:D001254 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref ICDO:9380/3 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref KEGG:05214 semapv:UnspecifiedMatching @@ -27236,52 +27548,52 @@ DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C3059 semapv:UnspecifiedMatch DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C4822 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref OMIMPS:137800 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref ORDO:182067 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS_CUI:C0017638 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS_CUI:C0555198 semapv:UnspecifiedMatching +DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS:C0017638 semapv:UnspecifiedMatching +DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS:C0555198 semapv:UnspecifiedMatching DOID:3070 high grade glioma skos:exactMatch OMIMPS:137800 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref GARD:5653 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref ICDO:9442/3 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref MESH:D018316 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref NCI:C3796 semapv:UnspecifiedMatching -DOID:3071 gliosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206726 semapv:UnspecifiedMatching +DOID:3071 gliosarcoma oboInOwl:hasDbXref UMLS:C0206726 semapv:UnspecifiedMatching DOID:3073 brain glioblastoma multiforme oboInOwl:hasDbXref NCI:C4642 semapv:UnspecifiedMatching -DOID:3073 brain glioblastoma multiforme oboInOwl:hasDbXref UMLS_CUI:C0349543 semapv:UnspecifiedMatching +DOID:3073 brain glioblastoma multiforme oboInOwl:hasDbXref UMLS:C0349543 semapv:UnspecifiedMatching DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref ICDO:9441/3 semapv:UnspecifiedMatching DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref NCI:C4325 semapv:UnspecifiedMatching -DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0334588 semapv:UnspecifiedMatching +DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref UMLS:C0334588 semapv:UnspecifiedMatching DOID:3076 adult astrocytic tumor oboInOwl:hasDbXref NCI:C7049 semapv:UnspecifiedMatching -DOID:3076 adult astrocytic tumor oboInOwl:hasDbXref UMLS_CUI:C1332183 semapv:UnspecifiedMatching +DOID:3076 adult astrocytic tumor oboInOwl:hasDbXref UMLS:C1332183 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref GARD:5860 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref NCI:C9477 semapv:UnspecifiedMatching -DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334579 semapv:UnspecifiedMatching +DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref UMLS:C0334579 semapv:UnspecifiedMatching DOID:3079 childhood astrocytic tumor oboInOwl:hasDbXref NCI:C9022 semapv:UnspecifiedMatching -DOID:3079 childhood astrocytic tumor oboInOwl:hasDbXref UMLS_CUI:C1321865 semapv:UnspecifiedMatching +DOID:3079 childhood astrocytic tumor oboInOwl:hasDbXref UMLS:C1321865 semapv:UnspecifiedMatching DOID:308 early myoclonic encephalopathy oboInOwl:hasDbXref MESH:D004831 semapv:UnspecifiedMatching -DOID:308 early myoclonic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0014550 semapv:UnspecifiedMatching +DOID:308 early myoclonic encephalopathy oboInOwl:hasDbXref UMLS:C0014550 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref GARD:6234 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref ICDO:9173/0 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref MESH:D018191 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref NCI:C3724 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching -DOID:3081 cystic lymphangioma oboInOwl:hasDbXref UMLS_CUI:C0206620 semapv:UnspecifiedMatching +DOID:3081 cystic lymphangioma oboInOwl:hasDbXref UMLS:C0206620 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma skos:exactMatch OMIM:257350 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref GARD:13336 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref ICD10CM:J84.9 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref NCI:C164315 semapv:UnspecifiedMatching -DOID:3082 interstitial lung disease oboInOwl:hasDbXref UMLS_CUI:C0206062 semapv:UnspecifiedMatching +DOID:3082 interstitial lung disease oboInOwl:hasDbXref UMLS:C0206062 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref EFO:0000341 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref ICD10CM:J44.9 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref MESH:D029424 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref NCI:C3199 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref OMIM:606963 semapv:UnspecifiedMatching -DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref UMLS_CUI:C0024117 semapv:UnspecifiedMatching +DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref UMLS:C0024117 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease skos:exactMatch OMIM:606963 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref ICD10CM:K06.1 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref MESH:D019214 semapv:UnspecifiedMatching -DOID:3086 gingival overgrowth oboInOwl:hasDbXref UMLS_CUI:C0376480 semapv:UnspecifiedMatching +DOID:3086 gingival overgrowth oboInOwl:hasDbXref UMLS:C0376480 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.0 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.1 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.10 semapv:UnspecifiedMatching @@ -27290,84 +27602,84 @@ DOID:3087 gingivitis oboInOwl:hasDbXref ICD9CM:523.1 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref MESH:D005891 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref NCI:C34474 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref NCI:C34636 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0008684 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0017574 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0155937 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref UMLS:C0008684 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref UMLS:C0017574 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref UMLS:C0155937 semapv:UnspecifiedMatching DOID:3089 granulomatous orchitis oboInOwl:hasDbXref NCI:C27162 semapv:UnspecifiedMatching -DOID:3089 granulomatous orchitis oboInOwl:hasDbXref UMLS_CUI:C0436545 semapv:UnspecifiedMatching +DOID:3089 granulomatous orchitis oboInOwl:hasDbXref UMLS:C0436545 semapv:UnspecifiedMatching DOID:3093 nervous system cancer oboInOwl:hasDbXref ICD9CM:192.9 semapv:UnspecifiedMatching DOID:3093 nervous system cancer oboInOwl:hasDbXref MESH:D009380 semapv:UnspecifiedMatching DOID:3093 nervous system cancer oboInOwl:hasDbXref NCI:C35562 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0027665 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0153643 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C1334956 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS:C0027665 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS:C0153643 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS:C1334956 semapv:UnspecifiedMatching DOID:3095 germ cell and embryonal cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching -DOID:3095 germ cell and embryonal cancer oboInOwl:hasDbXref UMLS_CUI:C0027658 semapv:UnspecifiedMatching +DOID:3095 germ cell and embryonal cancer oboInOwl:hasDbXref UMLS:C0027658 semapv:UnspecifiedMatching DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref ICD10CM:H04.57 semapv:UnspecifiedMatching DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref ICD9CM:375.54 semapv:UnspecifiedMatching -DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref UMLS_CUI:C0155246 semapv:UnspecifiedMatching +DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref UMLS:C0155246 semapv:UnspecifiedMatching DOID:3098 small cell sarcoma oboInOwl:hasDbXref ICDO:8803/3 semapv:UnspecifiedMatching DOID:3098 small cell sarcoma oboInOwl:hasDbXref MESH:D018228 semapv:UnspecifiedMatching DOID:3098 small cell sarcoma oboInOwl:hasDbXref NCI:C3746 semapv:UnspecifiedMatching -DOID:3098 small cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206652 semapv:UnspecifiedMatching +DOID:3098 small cell sarcoma oboInOwl:hasDbXref UMLS:C0206652 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref ICD10CM:E88.42 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref MESH:D017243 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref NCI:C84889 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref OMIM:545000 semapv:UnspecifiedMatching -DOID:310 MERRF syndrome oboInOwl:hasDbXref UMLS_CUI:C0162672 semapv:UnspecifiedMatching +DOID:310 MERRF syndrome oboInOwl:hasDbXref UMLS:C0162672 semapv:UnspecifiedMatching DOID:310 MERRF syndrome skos:exactMatch OMIM:545000 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref GARD:7759 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref ICD10CM:G54.0 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref NCI:C85188 semapv:UnspecifiedMatching -DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref UMLS_CUI:C0039984 semapv:UnspecifiedMatching +DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0039984 semapv:UnspecifiedMatching DOID:3107 toxascariasis oboInOwl:hasDbXref MESH:D017227 semapv:UnspecifiedMatching -DOID:3107 toxascariasis oboInOwl:hasDbXref UMLS_CUI:C0040522 semapv:UnspecifiedMatching +DOID:3107 toxascariasis oboInOwl:hasDbXref UMLS:C0040522 semapv:UnspecifiedMatching DOID:3108 ascaridiasis oboInOwl:hasDbXref MESH:D001198 semapv:UnspecifiedMatching -DOID:3108 ascaridiasis oboInOwl:hasDbXref UMLS_CUI:C0003952 semapv:UnspecifiedMatching +DOID:3108 ascaridiasis oboInOwl:hasDbXref UMLS:C0003952 semapv:UnspecifiedMatching DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref MESH:D018344 semapv:UnspecifiedMatching DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref NCI:C84780 semapv:UnspecifiedMatching -DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref UMLS_CUI:C0206744 semapv:UnspecifiedMatching +DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref UMLS:C0206744 semapv:UnspecifiedMatching DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref GARD:10162 semapv:UnspecifiedMatching DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref ICDO:8450/3 semapv:UnspecifiedMatching DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref MESH:D018283 semapv:UnspecifiedMatching DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref NCI:C3777 semapv:UnspecifiedMatching -DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206700 semapv:UnspecifiedMatching +DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0206700 semapv:UnspecifiedMatching DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref ICDO:8440/3 semapv:UnspecifiedMatching DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref MESH:D003536 semapv:UnspecifiedMatching DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref NCI:C2971 semapv:UnspecifiedMatching -DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0010631 semapv:UnspecifiedMatching +DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0010631 semapv:UnspecifiedMatching DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref ICDO:8260/3 semapv:UnspecifiedMatching DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref MESH:D000231 semapv:UnspecifiedMatching DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref NCI:C2853 semapv:UnspecifiedMatching -DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0001420 semapv:UnspecifiedMatching +DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref UMLS:C0001420 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref ICDO:8050/3 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref MESH:D002291 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref NCI:C2927 semapv:UnspecifiedMatching -DOID:3113 papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007133 semapv:UnspecifiedMatching +DOID:3113 papillary carcinoma oboInOwl:hasDbXref UMLS:C0007133 semapv:UnspecifiedMatching DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref MESH:D018284 semapv:UnspecifiedMatching DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C3778 semapv:UnspecifiedMatching -DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206701 semapv:UnspecifiedMatching +DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0206701 semapv:UnspecifiedMatching DOID:3116 kidney benign neoplasm oboInOwl:hasDbXref NCI:C7514 semapv:UnspecifiedMatching -DOID:3116 kidney benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334323 semapv:UnspecifiedMatching +DOID:3116 kidney benign neoplasm oboInOwl:hasDbXref UMLS:C1334323 semapv:UnspecifiedMatching DOID:3117 hepatobiliary benign neoplasm oboInOwl:hasDbXref NCI:C8614 semapv:UnspecifiedMatching -DOID:3117 hepatobiliary benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0854196 semapv:UnspecifiedMatching +DOID:3117 hepatobiliary benign neoplasm oboInOwl:hasDbXref UMLS:C0854196 semapv:UnspecifiedMatching DOID:3118 hepatobiliary disease oboInOwl:hasDbXref MESH:D004066 semapv:UnspecifiedMatching DOID:3118 hepatobiliary disease oboInOwl:hasDbXref NCI:C3959 semapv:UnspecifiedMatching -DOID:3118 hepatobiliary disease oboInOwl:hasDbXref UMLS_CUI:C0267792 semapv:UnspecifiedMatching +DOID:3118 hepatobiliary disease oboInOwl:hasDbXref UMLS:C0267792 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref ICD10CM:C26.9 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref ICD9CM:239.0 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref MESH:D004067 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref MESH:D005770 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref NCI:C3052 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref NCI:C4890 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS_CUI:C0012243 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS_CUI:C0017185 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS_CUI:C0685938 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS:C0012243 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS:C0017185 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS:C0685938 semapv:UnspecifiedMatching DOID:312 tenosynovitis of foot and ankle oboInOwl:hasDbXref ICD9CM:727.06 semapv:UnspecifiedMatching -DOID:312 tenosynovitis of foot and ankle oboInOwl:hasDbXref UMLS_CUI:C0158331 semapv:UnspecifiedMatching +DOID:312 tenosynovitis of foot and ankle oboInOwl:hasDbXref UMLS:C0158331 semapv:UnspecifiedMatching DOID:3120 gallbladder papillomatosis oboInOwl:hasDbXref NCI:C7130 semapv:UnspecifiedMatching -DOID:3120 gallbladder papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1333754 semapv:UnspecifiedMatching +DOID:3120 gallbladder papillomatosis oboInOwl:hasDbXref UMLS:C1333754 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref GARD:9328 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref ICD10CM:C23 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref ICD9CM:156.0 semapv:UnspecifiedMatching @@ -27375,19 +27687,19 @@ DOID:3121 gallbladder cancer oboInOwl:hasDbXref MESH:D005706 semapv:UnspecifiedM DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C3048 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C35676 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C7481 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0016978 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0153452 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0278806 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS:C0016978 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS:C0153452 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS:C0278806 semapv:UnspecifiedMatching DOID:3122 gastric outlet obstruction oboInOwl:hasDbXref MESH:D017219 semapv:UnspecifiedMatching -DOID:3122 gastric outlet obstruction oboInOwl:hasDbXref UMLS_CUI:C0162651 semapv:UnspecifiedMatching +DOID:3122 gastric outlet obstruction oboInOwl:hasDbXref UMLS:C0162651 semapv:UnspecifiedMatching DOID:3125 multiple endocrine neoplasia oboInOwl:hasDbXref MESH:D009377 semapv:UnspecifiedMatching DOID:3127 proctitis oboInOwl:hasDbXref ICD10CM:K62.89 semapv:UnspecifiedMatching DOID:3127 proctitis oboInOwl:hasDbXref MESH:D011349 semapv:UnspecifiedMatching DOID:3127 proctitis oboInOwl:hasDbXref NCI:C38011 semapv:UnspecifiedMatching -DOID:3127 proctitis oboInOwl:hasDbXref UMLS_CUI:C0033246 semapv:UnspecifiedMatching +DOID:3127 proctitis oboInOwl:hasDbXref UMLS:C0033246 semapv:UnspecifiedMatching DOID:3128 anus disease oboInOwl:hasDbXref MESH:D001004 semapv:UnspecifiedMatching DOID:3128 anus disease oboInOwl:hasDbXref NCI:C26695 semapv:UnspecifiedMatching -DOID:3128 anus disease oboInOwl:hasDbXref UMLS_CUI:C0003462 semapv:UnspecifiedMatching +DOID:3128 anus disease oboInOwl:hasDbXref UMLS:C0003462 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref GARD:7433 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref ICD10CM:E80.1 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref MESH:D017119 semapv:UnspecifiedMatching @@ -27395,159 +27707,159 @@ DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref NCI:C27725 semapv:Unspecifi DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref ORDO:101330 semapv:UnspecifiedMatching -DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref UMLS_CUI:C0162566 semapv:UnspecifiedMatching +DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0162566 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref MESH:D017094 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref ORDO:100924 semapv:UnspecifiedMatching -DOID:3133 acute porphyria oboInOwl:hasDbXref UMLS_CUI:C0162533 semapv:UnspecifiedMatching +DOID:3133 acute porphyria oboInOwl:hasDbXref UMLS:C0162533 semapv:UnspecifiedMatching DOID:3133 acute porphyria skos:exactMatch OMIM:612740 semapv:UnspecifiedMatching DOID:3134 facial dermatosis oboInOwl:hasDbXref MESH:D005148 semapv:UnspecifiedMatching -DOID:3134 facial dermatosis oboInOwl:hasDbXref UMLS_CUI:C0015456 semapv:UnspecifiedMatching +DOID:3134 facial dermatosis oboInOwl:hasDbXref UMLS:C0015456 semapv:UnspecifiedMatching DOID:3136 scalp dermatosis oboInOwl:hasDbXref MESH:D012536 semapv:UnspecifiedMatching -DOID:3136 scalp dermatosis oboInOwl:hasDbXref UMLS_CUI:C0036271 semapv:UnspecifiedMatching +DOID:3136 scalp dermatosis oboInOwl:hasDbXref UMLS:C0036271 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref GARD:8603 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref ICD10CM:L83 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref MESH:D000052 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref NCI:C26687 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref OMIM:100600 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref OMIM:200170 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref UMLS_CUI:C0000889 semapv:UnspecifiedMatching +DOID:3138 acanthosis nigricans oboInOwl:hasDbXref UMLS:C0000889 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans skos:exactMatch MESH:D000052 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICD9CM:727.02 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICDO:9252/0 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref MESH:D000070779 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref NCI:C3402 semapv:UnspecifiedMatching -DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C1318543 semapv:UnspecifiedMatching +DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS:C1318543 semapv:UnspecifiedMatching DOID:3140 scleredema adultorum oboInOwl:hasDbXref GARD:5975 semapv:UnspecifiedMatching DOID:3140 scleredema adultorum oboInOwl:hasDbXref MESH:D012592 semapv:UnspecifiedMatching DOID:3140 scleredema adultorum oboInOwl:hasDbXref NCI:C85057 semapv:UnspecifiedMatching -DOID:3140 scleredema adultorum oboInOwl:hasDbXref UMLS_CUI:C0036413 semapv:UnspecifiedMatching +DOID:3140 scleredema adultorum oboInOwl:hasDbXref UMLS:C0036413 semapv:UnspecifiedMatching DOID:3141 mucinoses oboInOwl:hasDbXref MESH:D017520 semapv:UnspecifiedMatching -DOID:3141 mucinoses oboInOwl:hasDbXref UMLS_CUI:C0162855 semapv:UnspecifiedMatching +DOID:3141 mucinoses oboInOwl:hasDbXref UMLS:C0162855 semapv:UnspecifiedMatching DOID:3142 leg dermatosis oboInOwl:hasDbXref MESH:D007868 semapv:UnspecifiedMatching -DOID:3142 leg dermatosis oboInOwl:hasDbXref UMLS_CUI:C0023219 semapv:UnspecifiedMatching +DOID:3142 leg dermatosis oboInOwl:hasDbXref UMLS:C0023219 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref GARD:6227 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref MESH:D003483 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref NCI:C84663 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref OMIMPS:123700 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref ORDO:209 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref UMLS_CUI:C0010495 semapv:UnspecifiedMatching +DOID:3144 cutis laxa oboInOwl:hasDbXref UMLS:C0010495 semapv:UnspecifiedMatching DOID:3144 cutis laxa skos:exactMatch OMIMPS:123700 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref MESH:D006952 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref NCI:C34710 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching -DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref UMLS_CUI:C0020479 semapv:UnspecifiedMatching +DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref UMLS:C0020479 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III skos:exactMatch OMIM:617347 semapv:UnspecifiedMatching DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref MESH:D008052 semapv:UnspecifiedMatching -DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref UMLS_CUI:C0023772 semapv:UnspecifiedMatching -DOID:3148 dermal unilateral segmental cavernous angioma oboInOwl:hasDbXref UMLS_CUI:C0474966 semapv:UnspecifiedMatching +DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref UMLS:C0023772 semapv:UnspecifiedMatching +DOID:3148 dermal unilateral segmental cavernous angioma oboInOwl:hasDbXref UMLS:C0474966 semapv:UnspecifiedMatching DOID:3149 keratoacanthoma oboInOwl:hasDbXref MESH:D007636 semapv:UnspecifiedMatching DOID:3149 keratoacanthoma oboInOwl:hasDbXref NCI:C3146 semapv:UnspecifiedMatching -DOID:3149 keratoacanthoma oboInOwl:hasDbXref UMLS_CUI:C0022572 semapv:UnspecifiedMatching +DOID:3149 keratoacanthoma oboInOwl:hasDbXref UMLS:C0022572 semapv:UnspecifiedMatching DOID:315 synovium neoplasm oboInOwl:hasDbXref NCI:C8964 semapv:UnspecifiedMatching -DOID:315 synovium neoplasm oboInOwl:hasDbXref UMLS_CUI:C0476203 semapv:UnspecifiedMatching +DOID:315 synovium neoplasm oboInOwl:hasDbXref UMLS:C0476203 semapv:UnspecifiedMatching DOID:3151 skin squamous cell carcinoma oboInOwl:hasDbXref NCI:C4819 semapv:UnspecifiedMatching -DOID:3151 skin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0553723 semapv:UnspecifiedMatching +DOID:3151 skin squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0553723 semapv:UnspecifiedMatching DOID:3153 lipomatosis oboInOwl:hasDbXref ICD10CM:E88.2 semapv:UnspecifiedMatching DOID:3153 lipomatosis oboInOwl:hasDbXref MESH:D008068 semapv:UnspecifiedMatching -DOID:3153 lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0023801 semapv:UnspecifiedMatching +DOID:3153 lipomatosis oboInOwl:hasDbXref UMLS:C0023801 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref MESH:D010859 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref NCI:C7582 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref OMIM:300337 semapv:UnspecifiedMatching -DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref UMLS_CUI:C0022283 semapv:UnspecifiedMatching +DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref UMLS:C0022283 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito skos:exactMatch OMIM:300337 semapv:UnspecifiedMatching DOID:3158 hand dermatosis oboInOwl:hasDbXref MESH:D006229 semapv:UnspecifiedMatching -DOID:3158 hand dermatosis oboInOwl:hasDbXref UMLS_CUI:C0018567 semapv:UnspecifiedMatching +DOID:3158 hand dermatosis oboInOwl:hasDbXref UMLS:C0018567 semapv:UnspecifiedMatching DOID:3159 photosensitivity disease oboInOwl:hasDbXref MESH:D010787 semapv:UnspecifiedMatching -DOID:3159 photosensitivity disease oboInOwl:hasDbXref UMLS_CUI:C0031762 semapv:UnspecifiedMatching +DOID:3159 photosensitivity disease oboInOwl:hasDbXref UMLS:C0031762 semapv:UnspecifiedMatching DOID:3162 malignant spindle cell melanoma oboInOwl:hasDbXref NCI:C4237 semapv:UnspecifiedMatching -DOID:3162 malignant spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C0334444 semapv:UnspecifiedMatching +DOID:3162 malignant spindle cell melanoma oboInOwl:hasDbXref UMLS:C0334444 semapv:UnspecifiedMatching DOID:3165 skin benign neoplasm oboInOwl:hasDbXref MESH:D012878 semapv:UnspecifiedMatching DOID:3165 skin benign neoplasm oboInOwl:hasDbXref NCI:C3372 semapv:UnspecifiedMatching -DOID:3165 skin benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0037286 semapv:UnspecifiedMatching +DOID:3165 skin benign neoplasm oboInOwl:hasDbXref UMLS:C0037286 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref ICD10CM:D72.823 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref ICD9CM:288.62 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref MESH:D007955 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref NCI:C3185 semapv:UnspecifiedMatching -DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref UMLS_CUI:C0023501 semapv:UnspecifiedMatching +DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref UMLS:C0023501 semapv:UnspecifiedMatching DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref MESH:D018307 semapv:UnspecifiedMatching DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref NCI:C3792 semapv:UnspecifiedMatching -DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0206720 semapv:UnspecifiedMatching +DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref UMLS:C0206720 semapv:UnspecifiedMatching DOID:3172 papillary adenoma oboInOwl:hasDbXref ICDO:8260/0 semapv:UnspecifiedMatching DOID:3172 papillary adenoma oboInOwl:hasDbXref MESH:D000236 semapv:UnspecifiedMatching DOID:3172 papillary adenoma oboInOwl:hasDbXref NCI:C79951 semapv:UnspecifiedMatching -DOID:3172 papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C0205650 semapv:UnspecifiedMatching +DOID:3172 papillary adenoma oboInOwl:hasDbXref UMLS:C0205650 semapv:UnspecifiedMatching DOID:3173 fallopian tube serous papilloma oboInOwl:hasDbXref NCI:C40112 semapv:UnspecifiedMatching -DOID:3173 fallopian tube serous papilloma oboInOwl:hasDbXref UMLS_CUI:C1517123 semapv:UnspecifiedMatching +DOID:3173 fallopian tube serous papilloma oboInOwl:hasDbXref UMLS:C1517123 semapv:UnspecifiedMatching DOID:3177 verrucous papilloma oboInOwl:hasDbXref ICDO:8051/0 semapv:UnspecifiedMatching DOID:3177 verrucous papilloma oboInOwl:hasDbXref NCI:C4101 semapv:UnspecifiedMatching -DOID:3177 verrucous papilloma oboInOwl:hasDbXref UMLS_CUI:C0334243 semapv:UnspecifiedMatching +DOID:3177 verrucous papilloma oboInOwl:hasDbXref UMLS:C0334243 semapv:UnspecifiedMatching DOID:3178 skin papilloma oboInOwl:hasDbXref NCI:C4614 semapv:UnspecifiedMatching -DOID:3178 skin papilloma oboInOwl:hasDbXref UMLS_CUI:C0347390 semapv:UnspecifiedMatching +DOID:3178 skin papilloma oboInOwl:hasDbXref UMLS:C0347390 semapv:UnspecifiedMatching DOID:3179 inverted papilloma oboInOwl:hasDbXref MESH:D018308 semapv:UnspecifiedMatching DOID:3179 inverted papilloma oboInOwl:hasDbXref NCI:C3793 semapv:UnspecifiedMatching -DOID:3179 inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C0206721 semapv:UnspecifiedMatching +DOID:3179 inverted papilloma oboInOwl:hasDbXref UMLS:C0206721 semapv:UnspecifiedMatching DOID:318 progressive muscular atrophy oboInOwl:hasDbXref ICD9CM:335.21 semapv:UnspecifiedMatching DOID:318 progressive muscular atrophy oboInOwl:hasDbXref MESH:D009134 semapv:UnspecifiedMatching DOID:318 progressive muscular atrophy oboInOwl:hasDbXref NCI:C85027 semapv:UnspecifiedMatching -DOID:318 progressive muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0917981 semapv:UnspecifiedMatching +DOID:318 progressive muscular atrophy oboInOwl:hasDbXref UMLS:C0917981 semapv:UnspecifiedMatching DOID:3181 oligodendroglioma oboInOwl:hasDbXref GARD:9953 semapv:UnspecifiedMatching DOID:3181 oligodendroglioma oboInOwl:hasDbXref ICDO:9450/3 semapv:UnspecifiedMatching DOID:3181 oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:3181 oligodendroglioma oboInOwl:hasDbXref NCI:C3288 semapv:UnspecifiedMatching -DOID:3181 oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0751396 semapv:UnspecifiedMatching +DOID:3181 oligodendroglioma oboInOwl:hasDbXref UMLS:C0751396 semapv:UnspecifiedMatching DOID:3181 oligodendroglioma skos:exactMatch MESH:D009837 semapv:UnspecifiedMatching DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref NCI:C4045 semapv:UnspecifiedMatching -DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0280475 semapv:UnspecifiedMatching +DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref UMLS:C0280475 semapv:UnspecifiedMatching DOID:3184 spinal cord oligodendroglioma oboInOwl:hasDbXref NCI:C4535 semapv:UnspecifiedMatching -DOID:3184 spinal cord oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0346295 semapv:UnspecifiedMatching +DOID:3184 spinal cord oligodendroglioma oboInOwl:hasDbXref UMLS:C0346295 semapv:UnspecifiedMatching DOID:3185 spinal cord glioma oboInOwl:hasDbXref NCI:C4534 semapv:UnspecifiedMatching -DOID:3185 spinal cord glioma oboInOwl:hasDbXref UMLS_CUI:C2937245 semapv:UnspecifiedMatching +DOID:3185 spinal cord glioma oboInOwl:hasDbXref UMLS:C2937245 semapv:UnspecifiedMatching DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref NCI:C4014 semapv:UnspecifiedMatching DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref NCI:C9376 semapv:UnspecifiedMatching -DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0279070 semapv:UnspecifiedMatching -DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C1332190 semapv:UnspecifiedMatching +DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref UMLS:C0279070 semapv:UnspecifiedMatching +DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref UMLS:C1332190 semapv:UnspecifiedMatching DOID:3187 brain oligodendroglioma oboInOwl:hasDbXref NCI:C9377 semapv:UnspecifiedMatching -DOID:3187 brain oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0346286 semapv:UnspecifiedMatching +DOID:3187 brain oligodendroglioma oboInOwl:hasDbXref UMLS:C0346286 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref ICD10CM:G95.9 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref ICD9CM:336.9 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref MESH:D013118 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref NCI:C97110 semapv:UnspecifiedMatching -DOID:319 spinal cord disease oboInOwl:hasDbXref UMLS_CUI:C0037928 semapv:UnspecifiedMatching +DOID:319 spinal cord disease oboInOwl:hasDbXref UMLS:C0037928 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref GARD:12033 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref ICD10CM:G71.21 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref MESH:D017696 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref OMIMPS:161800 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref ORDO:607 semapv:UnspecifiedMatching -DOID:3191 nemaline myopathy oboInOwl:hasDbXref UMLS_CUI:C0206157 semapv:UnspecifiedMatching +DOID:3191 nemaline myopathy oboInOwl:hasDbXref UMLS:C0206157 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy skos:exactMatch OMIMPS:161800 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref ICDO:9560/3 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref MESH:D009442 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref NCI:C3269 semapv:UnspecifiedMatching -DOID:3192 neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C0027809 semapv:UnspecifiedMatching +DOID:3192 neurilemmoma oboInOwl:hasDbXref UMLS:C0027809 semapv:UnspecifiedMatching DOID:3193 peripheral nerve sheath neoplasm oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching -DOID:3193 peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS_CUI:C0751689 semapv:UnspecifiedMatching +DOID:3193 peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS:C0751689 semapv:UnspecifiedMatching DOID:3196 cellular schwannoma oboInOwl:hasDbXref NCI:C4724 semapv:UnspecifiedMatching -DOID:3196 cellular schwannoma oboInOwl:hasDbXref UMLS_CUI:C0431124 semapv:UnspecifiedMatching +DOID:3196 cellular schwannoma oboInOwl:hasDbXref UMLS:C0431124 semapv:UnspecifiedMatching DOID:3197 schwannoma of twelfth cranial nerve oboInOwl:hasDbXref NCI:C5434 semapv:UnspecifiedMatching -DOID:3197 schwannoma of twelfth cranial nerve oboInOwl:hasDbXref UMLS_CUI:C1335928 semapv:UnspecifiedMatching +DOID:3197 schwannoma of twelfth cranial nerve oboInOwl:hasDbXref UMLS:C1335928 semapv:UnspecifiedMatching DOID:3198 hypoglossal nerve neoplasm oboInOwl:hasDbXref NCI:C5830 semapv:UnspecifiedMatching -DOID:3198 hypoglossal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263903 semapv:UnspecifiedMatching +DOID:3198 hypoglossal nerve neoplasm oboInOwl:hasDbXref UMLS:C1263903 semapv:UnspecifiedMatching DOID:3199 C-P angle neurinoma oboInOwl:hasDbXref NCI:C5413 semapv:UnspecifiedMatching -DOID:3199 C-P angle neurinoma oboInOwl:hasDbXref UMLS_CUI:C1332905 semapv:UnspecifiedMatching +DOID:3199 C-P angle neurinoma oboInOwl:hasDbXref UMLS:C1332905 semapv:UnspecifiedMatching DOID:320 vascular myelopathy oboInOwl:hasDbXref ICD10CM:G95.1 semapv:UnspecifiedMatching DOID:320 vascular myelopathy oboInOwl:hasDbXref ICD9CM:336.1 semapv:UnspecifiedMatching -DOID:320 vascular myelopathy oboInOwl:hasDbXref UMLS_CUI:C0154685 semapv:UnspecifiedMatching +DOID:320 vascular myelopathy oboInOwl:hasDbXref UMLS:C0154685 semapv:UnspecifiedMatching DOID:3200 cerebellopontine angle tumor oboInOwl:hasDbXref NCI:C5414 semapv:UnspecifiedMatching DOID:3201 sympathetic neurilemmoma oboInOwl:hasDbXref NCI:C5421 semapv:UnspecifiedMatching -DOID:3201 sympathetic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1336543 semapv:UnspecifiedMatching +DOID:3201 sympathetic neurilemmoma oboInOwl:hasDbXref UMLS:C1336543 semapv:UnspecifiedMatching DOID:3202 neurilemmoma of the fifth cranial nerve oboInOwl:hasDbXref NCI:C4655 semapv:UnspecifiedMatching -DOID:3202 neurilemmoma of the fifth cranial nerve oboInOwl:hasDbXref UMLS_CUI:C0349582 semapv:UnspecifiedMatching +DOID:3202 neurilemmoma of the fifth cranial nerve oboInOwl:hasDbXref UMLS:C0349582 semapv:UnspecifiedMatching DOID:3203 macrocystic neurilemmoma oboInOwl:hasDbXref NCI:C5321 semapv:UnspecifiedMatching -DOID:3203 macrocystic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C4054526 semapv:UnspecifiedMatching +DOID:3203 macrocystic neurilemmoma oboInOwl:hasDbXref UMLS:C4054526 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref ICD10CM:Q85.03 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref ICD9CM:237.73 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref ICDO:9560/1 semapv:UnspecifiedMatching @@ -27555,7 +27867,7 @@ DOID:3204 schwannomatosis oboInOwl:hasDbXref MESH:C536641 semapv:UnspecifiedMatc DOID:3204 schwannomatosis oboInOwl:hasDbXref NCI:C6557 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref OMIMPS:162091 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref ORDO:93921 semapv:UnspecifiedMatching -DOID:3204 schwannomatosis oboInOwl:hasDbXref UMLS_CUI:C1335929 semapv:UnspecifiedMatching +DOID:3204 schwannomatosis oboInOwl:hasDbXref UMLS:C1335929 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:broadMatch ORDO:634518 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch ICD10CM:Q85.03 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch ICD9CM:237.73 semapv:UnspecifiedMatching @@ -27565,118 +27877,119 @@ DOID:3204 schwannomatosis skos:exactMatch NCI:C6557 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch OMIM:PS162091 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch OMIMPS:162091 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch ORDO:93921 semapv:UnspecifiedMatching -DOID:3204 schwannomatosis skos:exactMatch UMLS_CUI:C1335929 semapv:UnspecifiedMatching +DOID:3204 schwannomatosis skos:exactMatch SNOMEDCT_US_2020_03_01:781641005 semapv:UnspecifiedMatching +DOID:3204 schwannomatosis skos:exactMatch UMLS:C1335929 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:narrowMatch ORDO:634492 semapv:UnspecifiedMatching DOID:3205 melanotic neurilemmoma oboInOwl:hasDbXref NCI:C6970 semapv:UnspecifiedMatching -DOID:3205 melanotic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1306247 semapv:UnspecifiedMatching +DOID:3205 melanotic neurilemmoma oboInOwl:hasDbXref UMLS:C1306247 semapv:UnspecifiedMatching DOID:3206 plexiform schwannoma oboInOwl:hasDbXref NCI:C6969 semapv:UnspecifiedMatching -DOID:3206 plexiform schwannoma oboInOwl:hasDbXref UMLS_CUI:C1370659 semapv:UnspecifiedMatching +DOID:3206 plexiform schwannoma oboInOwl:hasDbXref UMLS:C1370659 semapv:UnspecifiedMatching DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref GARD:2152 semapv:UnspecifiedMatching DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref MESH:D016109 semapv:UnspecifiedMatching DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref NCI:C90598 semapv:UnspecifiedMatching -DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS_CUI:C0079301 semapv:UnspecifiedMatching +DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079301 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref ICD10CM:G04.1 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref MESH:D015493 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref NCI:C179058 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref UMLS_CUI:C0030481 semapv:UnspecifiedMatching +DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref UMLS:C0030481 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis skos:exactMatch OMIM:159580 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref GARD:4265 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref NCI:C75487 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ORDO:702 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS_CUI:C0205711 semapv:UnspecifiedMatching +DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS:C0205711 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease skos:exactMatch OMIM:312080 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref MESH:D016464 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref NCI:C61250 semapv:UnspecifiedMatching -DOID:3211 lysosomal storage disease oboInOwl:hasDbXref UMLS_CUI:C0085078 semapv:UnspecifiedMatching +DOID:3211 lysosomal storage disease oboInOwl:hasDbXref UMLS:C0085078 semapv:UnspecifiedMatching DOID:3213 demyelinating disease oboInOwl:hasDbXref MESH:D003711 semapv:UnspecifiedMatching DOID:3213 demyelinating disease oboInOwl:hasDbXref NCI:C34527 semapv:UnspecifiedMatching -DOID:3213 demyelinating disease oboInOwl:hasDbXref UMLS_CUI:C0011303 semapv:UnspecifiedMatching +DOID:3213 demyelinating disease oboInOwl:hasDbXref UMLS:C0011303 semapv:UnspecifiedMatching DOID:3216 jejunal somatostatinoma oboInOwl:hasDbXref NCI:C5787 semapv:UnspecifiedMatching -DOID:3216 jejunal somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C1334297 semapv:UnspecifiedMatching +DOID:3216 jejunal somatostatinoma oboInOwl:hasDbXref UMLS:C1334297 semapv:UnspecifiedMatching DOID:3218 jejunal neoplasm oboInOwl:hasDbXref MESH:D007580 semapv:UnspecifiedMatching DOID:3218 jejunal neoplasm oboInOwl:hasDbXref NCI:C8401 semapv:UnspecifiedMatching -DOID:3218 jejunal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0022374 semapv:UnspecifiedMatching +DOID:3218 jejunal neoplasm oboInOwl:hasDbXref UMLS:C0022374 semapv:UnspecifiedMatching DOID:322 myelitis oboInOwl:hasDbXref GARD:7130 semapv:UnspecifiedMatching DOID:322 myelitis oboInOwl:hasDbXref MESH:D009187 semapv:UnspecifiedMatching DOID:322 myelitis oboInOwl:hasDbXref NCI:C26832 semapv:UnspecifiedMatching -DOID:322 myelitis oboInOwl:hasDbXref UMLS_CUI:C0026975 semapv:UnspecifiedMatching +DOID:322 myelitis oboInOwl:hasDbXref UMLS:C0026975 semapv:UnspecifiedMatching DOID:3222 causalgia oboInOwl:hasDbXref MESH:D002422 semapv:UnspecifiedMatching DOID:3222 causalgia oboInOwl:hasDbXref NCI:C121572 semapv:UnspecifiedMatching -DOID:3222 causalgia oboInOwl:hasDbXref UMLS_CUI:C0007462 semapv:UnspecifiedMatching +DOID:3222 causalgia oboInOwl:hasDbXref UMLS:C0007462 semapv:UnspecifiedMatching DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref GARD:4647 semapv:UnspecifiedMatching DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref MESH:D020918 semapv:UnspecifiedMatching -DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref UMLS_CUI:C0458219 semapv:UnspecifiedMatching +DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref UMLS:C0458219 semapv:UnspecifiedMatching DOID:3225 tracheal disease oboInOwl:hasDbXref ICD10CM:S12.8 semapv:UnspecifiedMatching DOID:3225 tracheal disease oboInOwl:hasDbXref MESH:D014133 semapv:UnspecifiedMatching DOID:3225 tracheal disease oboInOwl:hasDbXref NCI:C35079 semapv:UnspecifiedMatching -DOID:3225 tracheal disease oboInOwl:hasDbXref UMLS_CUI:C0040580 semapv:UnspecifiedMatching +DOID:3225 tracheal disease oboInOwl:hasDbXref UMLS:C0040580 semapv:UnspecifiedMatching DOID:3227 tracheal stenosis oboInOwl:hasDbXref MESH:D014135 semapv:UnspecifiedMatching DOID:3227 tracheal stenosis oboInOwl:hasDbXref NCI:C78646 semapv:UnspecifiedMatching -DOID:3227 tracheal stenosis oboInOwl:hasDbXref UMLS_CUI:C0040583 semapv:UnspecifiedMatching +DOID:3227 tracheal stenosis oboInOwl:hasDbXref UMLS:C0040583 semapv:UnspecifiedMatching DOID:3227 tracheal stenosis skos:exactMatch MESH:D014135 semapv:UnspecifiedMatching DOID:3229 gastric dilatation oboInOwl:hasDbXref MESH:D013271 semapv:UnspecifiedMatching -DOID:3229 gastric dilatation oboInOwl:hasDbXref UMLS_CUI:C0038353 semapv:UnspecifiedMatching +DOID:3229 gastric dilatation oboInOwl:hasDbXref UMLS:C0038353 semapv:UnspecifiedMatching DOID:3230 high pressure neurological syndrome oboInOwl:hasDbXref MESH:D006610 semapv:UnspecifiedMatching -DOID:3230 high pressure neurological syndrome oboInOwl:hasDbXref UMLS_CUI:C0019537 semapv:UnspecifiedMatching +DOID:3230 high pressure neurological syndrome oboInOwl:hasDbXref UMLS:C0019537 semapv:UnspecifiedMatching DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref ICD9CM:200.5 semapv:UnspecifiedMatching DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref NCI:C9301 semapv:UnspecifiedMatching -DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref UMLS_CUI:C0280803 semapv:UnspecifiedMatching +DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref UMLS:C0280803 semapv:UnspecifiedMatching DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref ICD10CM:J69.0 semapv:UnspecifiedMatching DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref MESH:D011015 semapv:UnspecifiedMatching -DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0032290 semapv:UnspecifiedMatching +DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref UMLS:C0032290 semapv:UnspecifiedMatching DOID:3241 lipid pneumonia oboInOwl:hasDbXref ICD10CM:J69.1 semapv:UnspecifiedMatching DOID:3241 lipid pneumonia oboInOwl:hasDbXref MESH:D011017 semapv:UnspecifiedMatching -DOID:3241 lipid pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032298 semapv:UnspecifiedMatching +DOID:3241 lipid pneumonia oboInOwl:hasDbXref UMLS:C0032298 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref GARD:4702 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8910/3 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018233 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C8971 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref ORDO:99757 semapv:UnspecifiedMatching -DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206656 semapv:UnspecifiedMatching +DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206656 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma skos:exactMatch OMIM:268210 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8900/3 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3359 semapv:UnspecifiedMatching -DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0035412 semapv:UnspecifiedMatching +DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0035412 semapv:UnspecifiedMatching DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8901/3 semapv:UnspecifiedMatching DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C4258 semapv:UnspecifiedMatching -DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334480 semapv:UnspecifiedMatching +DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0334480 semapv:UnspecifiedMatching DOID:3251 prostate embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5525 semapv:UnspecifiedMatching -DOID:3251 prostate embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335508 semapv:UnspecifiedMatching +DOID:3251 prostate embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335508 semapv:UnspecifiedMatching DOID:3252 prostate rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5522 semapv:UnspecifiedMatching -DOID:3252 prostate rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335518 semapv:UnspecifiedMatching +DOID:3252 prostate rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335518 semapv:UnspecifiedMatching DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5847 semapv:UnspecifiedMatching -DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333505 semapv:UnspecifiedMatching +DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1333505 semapv:UnspecifiedMatching DOID:3254 bile duct rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5860 semapv:UnspecifiedMatching -DOID:3254 bile duct rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C2064434 semapv:UnspecifiedMatching +DOID:3254 bile duct rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C2064434 semapv:UnspecifiedMatching DOID:3255 botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C9150 semapv:UnspecifiedMatching -DOID:3255 botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1306573 semapv:UnspecifiedMatching +DOID:3255 botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1306573 semapv:UnspecifiedMatching DOID:3258 orbit embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6246 semapv:UnspecifiedMatching -DOID:3258 orbit embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335127 semapv:UnspecifiedMatching +DOID:3258 orbit embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335127 semapv:UnspecifiedMatching DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref MESH:C537605 semapv:UnspecifiedMatching DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref NCI:C4543 semapv:UnspecifiedMatching -DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346347 semapv:UnspecifiedMatching +DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0346347 semapv:UnspecifiedMatching DOID:326 ischemia oboInOwl:hasDbXref MESH:D007511 semapv:UnspecifiedMatching DOID:326 ischemia oboInOwl:hasDbXref NCI:C34738 semapv:UnspecifiedMatching -DOID:326 ischemia oboInOwl:hasDbXref UMLS_CUI:C0022116 semapv:UnspecifiedMatching +DOID:326 ischemia oboInOwl:hasDbXref UMLS:C0022116 semapv:UnspecifiedMatching DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8912/3 semapv:UnspecifiedMatching DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6519 semapv:UnspecifiedMatching -DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266134 semapv:UnspecifiedMatching +DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1266134 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref GARD:6800 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref MESH:D007589 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126342 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126343 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref OMIM:147060 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref ORDO:2314 semapv:UnspecifiedMatching -DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C1968689 semapv:UnspecifiedMatching -DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C2936739 semapv:UnspecifiedMatching +DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS:C1968689 semapv:UnspecifiedMatching +DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS:C2936739 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 semapv:UnspecifiedMatching DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref MESH:D010585 semapv:UnspecifiedMatching -DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref UMLS_CUI:C0031306 semapv:UnspecifiedMatching +DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref UMLS:C0031306 semapv:UnspecifiedMatching DOID:3262 phagocyte bactericidal dysfunction skos:exactMatch MESH:D010585 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref GARD:4344 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref ICD10CM:E70.39 semapv:UnspecifiedMatching @@ -27684,110 +27997,110 @@ DOID:3263 piebaldism oboInOwl:hasDbXref MESH:D016116 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref NCI:C85009 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref ORDO:2884 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref UMLS_CUI:C0080024 semapv:UnspecifiedMatching +DOID:3263 piebaldism oboInOwl:hasDbXref UMLS:C0080024 semapv:UnspecifiedMatching DOID:3263 piebaldism skos:exactMatch OMIM:172800 semapv:UnspecifiedMatching DOID:3264 subacute leukemia oboInOwl:hasDbXref ICD9CM:208.2 semapv:UnspecifiedMatching -DOID:3264 subacute leukemia oboInOwl:hasDbXref UMLS_CUI:C0153924 semapv:UnspecifiedMatching +DOID:3264 subacute leukemia oboInOwl:hasDbXref UMLS:C0153924 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref GARD:6100 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ICD10CM:D71 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref NCI:C26788 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref OMIMPS:306400 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ORDO:379 semapv:UnspecifiedMatching -DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref UMLS_CUI:C0018203 semapv:UnspecifiedMatching +DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref UMLS:C0018203 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease skos:exactMatch OMIMPS:306400 semapv:UnspecifiedMatching DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref NCI:C4512 semapv:UnspecifiedMatching -DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0346172 semapv:UnspecifiedMatching +DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref UMLS:C0346172 semapv:UnspecifiedMatching DOID:3269 ovarian cystadenoma oboInOwl:hasDbXref NCI:C4060 semapv:UnspecifiedMatching -DOID:3269 ovarian cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0346169 semapv:UnspecifiedMatching +DOID:3269 ovarian cystadenoma oboInOwl:hasDbXref UMLS:C0346169 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref GARD:7725 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref MESH:D013595 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref NCI:C85179 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref OMIM:186700 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref ORDO:3280 semapv:UnspecifiedMatching -DOID:327 syringomyelia oboInOwl:hasDbXref UMLS_CUI:C0039144 semapv:UnspecifiedMatching +DOID:327 syringomyelia oboInOwl:hasDbXref UMLS:C0039144 semapv:UnspecifiedMatching DOID:327 syringomyelia skos:exactMatch OMIM:186700 semapv:UnspecifiedMatching DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref NCI:C8365 semapv:UnspecifiedMatching -DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref UMLS_CUI:C0334056 semapv:UnspecifiedMatching +DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref UMLS:C0334056 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref ICDO:8580/3 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref MESH:D013945 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref NCI:C3411 semapv:UnspecifiedMatching -DOID:3275 thymoma oboInOwl:hasDbXref UMLS_CUI:C0040100 semapv:UnspecifiedMatching +DOID:3275 thymoma oboInOwl:hasDbXref UMLS:C0040100 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref ICD10CM:C37 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref ICD9CM:164.0 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref MESH:D013953 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref NCI:C4962 semapv:UnspecifiedMatching -DOID:3277 thymus cancer oboInOwl:hasDbXref UMLS_CUI:C0751552 semapv:UnspecifiedMatching +DOID:3277 thymus cancer oboInOwl:hasDbXref UMLS:C0751552 semapv:UnspecifiedMatching DOID:3278 encapsulated thymoma oboInOwl:hasDbXref NCI:C7386 semapv:UnspecifiedMatching -DOID:3278 encapsulated thymoma oboInOwl:hasDbXref UMLS_CUI:C1333383 semapv:UnspecifiedMatching +DOID:3278 encapsulated thymoma oboInOwl:hasDbXref UMLS:C1333383 semapv:UnspecifiedMatching DOID:3279 spindle cell thymoma oboInOwl:hasDbXref NCI:C6454 semapv:UnspecifiedMatching -DOID:3279 spindle cell thymoma oboInOwl:hasDbXref UMLS_CUI:C1266091 semapv:UnspecifiedMatching +DOID:3279 spindle cell thymoma oboInOwl:hasDbXref UMLS:C1266091 semapv:UnspecifiedMatching DOID:3280 mixed type thymoma oboInOwl:hasDbXref NCI:C6885 semapv:UnspecifiedMatching -DOID:3280 mixed type thymoma oboInOwl:hasDbXref UMLS_CUI:C1266092 semapv:UnspecifiedMatching +DOID:3280 mixed type thymoma oboInOwl:hasDbXref UMLS:C1266092 semapv:UnspecifiedMatching DOID:3282 thymoma type B oboInOwl:hasDbXref NCI:C7114 semapv:UnspecifiedMatching DOID:3282 thymoma type B oboInOwl:hasDbXref ORDO:263317 semapv:UnspecifiedMatching -DOID:3282 thymoma type B oboInOwl:hasDbXref UMLS_CUI:C1328042 semapv:UnspecifiedMatching +DOID:3282 thymoma type B oboInOwl:hasDbXref UMLS:C1328042 semapv:UnspecifiedMatching DOID:3283 invasive malignant thymoma oboInOwl:hasDbXref NCI:C6453 semapv:UnspecifiedMatching -DOID:3283 invasive malignant thymoma oboInOwl:hasDbXref UMLS_CUI:C0278846 semapv:UnspecifiedMatching +DOID:3283 invasive malignant thymoma oboInOwl:hasDbXref UMLS:C0278846 semapv:UnspecifiedMatching DOID:3284 thymic carcinoma oboInOwl:hasDbXref ICDO:8586/3 semapv:UnspecifiedMatching DOID:3284 thymic carcinoma oboInOwl:hasDbXref MESH:D013945 semapv:UnspecifiedMatching DOID:3284 thymic carcinoma oboInOwl:hasDbXref NCI:C7569 semapv:UnspecifiedMatching -DOID:3284 thymic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0205969 semapv:UnspecifiedMatching +DOID:3284 thymic carcinoma oboInOwl:hasDbXref UMLS:C0205969 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref GARD:10722 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref ICD10CM:B04 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref ICD9CM:059.01 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref MESH:D045908 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref NCI:C128421 semapv:UnspecifiedMatching -DOID:3292 mpox oboInOwl:hasDbXref UMLS_CUI:C0276180 semapv:UnspecifiedMatching +DOID:3292 mpox oboInOwl:hasDbXref UMLS:C0276180 semapv:UnspecifiedMatching DOID:3298 vaccinia oboInOwl:hasDbXref MESH:D014615 semapv:UnspecifiedMatching -DOID:3298 vaccinia oboInOwl:hasDbXref UMLS_CUI:C0042214 semapv:UnspecifiedMatching +DOID:3298 vaccinia oboInOwl:hasDbXref UMLS:C0042214 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref ICDO:9073/1 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref MESH:D018238 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref NCI:C3754 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref OMIM:424500 semapv:UnspecifiedMatching -DOID:3301 gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C0206661 semapv:UnspecifiedMatching +DOID:3301 gonadoblastoma oboInOwl:hasDbXref UMLS:C0206661 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma skos:exactMatch OMIM:424500 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref GARD:1303 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref ICDO:9370/3 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref MESH:D002817 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref NCI:C2947 semapv:UnspecifiedMatching -DOID:3302 chordoma oboInOwl:hasDbXref UMLS_CUI:C0008487 semapv:UnspecifiedMatching +DOID:3302 chordoma oboInOwl:hasDbXref UMLS:C0008487 semapv:UnspecifiedMatching DOID:3303 notochordal cancer oboInOwl:hasDbXref NCI:C7063 semapv:UnspecifiedMatching -DOID:3303 notochordal cancer oboInOwl:hasDbXref UMLS_CUI:C1335069 semapv:UnspecifiedMatching +DOID:3303 notochordal cancer oboInOwl:hasDbXref UMLS:C1335069 semapv:UnspecifiedMatching DOID:3304 germinoma oboInOwl:hasDbXref ICDO:9064/3 semapv:UnspecifiedMatching DOID:3304 germinoma oboInOwl:hasDbXref MESH:D018237 semapv:UnspecifiedMatching -DOID:3304 germinoma oboInOwl:hasDbXref UMLS_CUI:C0206660 semapv:UnspecifiedMatching +DOID:3304 germinoma oboInOwl:hasDbXref UMLS:C0206660 semapv:UnspecifiedMatching DOID:3305 teratocarcinoma oboInOwl:hasDbXref ICDO:9081/3 semapv:UnspecifiedMatching DOID:3305 teratocarcinoma oboInOwl:hasDbXref MESH:D018243 semapv:UnspecifiedMatching DOID:3305 teratocarcinoma oboInOwl:hasDbXref NCI:C3756 semapv:UnspecifiedMatching -DOID:3305 teratocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206664 semapv:UnspecifiedMatching +DOID:3305 teratocarcinoma oboInOwl:hasDbXref UMLS:C0206664 semapv:UnspecifiedMatching DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref ICDO:9085/3 semapv:UnspecifiedMatching DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref NCI:C4290 semapv:UnspecifiedMatching -DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0334524 semapv:UnspecifiedMatching +DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref UMLS:C0334524 semapv:UnspecifiedMatching DOID:3307 teratoma oboInOwl:hasDbXref ICDO:9080/3 semapv:UnspecifiedMatching DOID:3307 teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching DOID:3307 teratoma oboInOwl:hasDbXref NCI:C3403 semapv:UnspecifiedMatching -DOID:3307 teratoma oboInOwl:hasDbXref UMLS_CUI:C0039538 semapv:UnspecifiedMatching +DOID:3307 teratoma oboInOwl:hasDbXref UMLS:C0039538 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref GARD:5140 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref ICDO:9070/3 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref NCI:C3752 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref NCI:C8880 semapv:UnspecifiedMatching -DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206659 semapv:UnspecifiedMatching -DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0855159 semapv:UnspecifiedMatching +DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS:C0206659 semapv:UnspecifiedMatching +DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS:C0855159 semapv:UnspecifiedMatching DOID:3309 neurodermatitis oboInOwl:hasDbXref MESH:D009450 semapv:UnspecifiedMatching DOID:3309 neurodermatitis oboInOwl:hasDbXref NCI:C111963 semapv:UnspecifiedMatching -DOID:3309 neurodermatitis oboInOwl:hasDbXref UMLS_CUI:C0027822 semapv:UnspecifiedMatching +DOID:3309 neurodermatitis oboInOwl:hasDbXref UMLS:C0027822 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref ICD10CM:G96.9 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref MESH:D002493 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref NCI:C2934 semapv:UnspecifiedMatching -DOID:331 central nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0007682 semapv:UnspecifiedMatching +DOID:331 central nervous system disease oboInOwl:hasDbXref UMLS:C0007682 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref EFO:0000274 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref ICD10CM:L20 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref MESH:D003876 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIM:603165 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIMPS:603165 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011615 semapv:UnspecifiedMatching +DOID:3310 atopic dermatitis oboInOwl:hasDbXref UMLS:C0011615 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref EFO:0000289 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref GARD:10249 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref ICD10CM:F31 semapv:UnspecifiedMatching @@ -27798,14 +28111,14 @@ DOID:3312 bipolar disorder oboInOwl:hasDbXref MESH:D001714 semapv:UnspecifiedMat DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34423 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34424 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34805 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0005586 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0005587 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0024713 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0236780 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS:C0005586 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS:C0005587 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS:C0024713 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS:C0236780 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma oboInOwl:hasDbXref ICDO:8860/0 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma oboInOwl:hasDbXref MESH:D018207 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma oboInOwl:hasDbXref NCI:C3734 semapv:UnspecifiedMatching -DOID:3314 angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C0206633 semapv:UnspecifiedMatching +DOID:3314 angiomyolipoma oboInOwl:hasDbXref UMLS:C0206633 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma skos:exactMatch MESH:D018207 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref ICD10CM:D17 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref ICD10CM:D17.9 semapv:UnspecifiedMatching @@ -27817,23 +28130,23 @@ DOID:3315 lipoma oboInOwl:hasDbXref NCI:C3192 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref NCI:C4248 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref NCI:C4502 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0023798 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0206631 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0346118 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref UMLS:C0023798 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref UMLS:C0206631 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref UMLS:C0346118 semapv:UnspecifiedMatching DOID:3315 lipoma skos:exactMatch OMIM:151900 semapv:UnspecifiedMatching DOID:3316 perivascular tumor oboInOwl:hasDbXref NCI:C6528 semapv:UnspecifiedMatching DOID:3316 perivascular tumor oboInOwl:hasDbXref NCI:C6530 semapv:UnspecifiedMatching -DOID:3316 perivascular tumor oboInOwl:hasDbXref UMLS_CUI:C1334611 semapv:UnspecifiedMatching -DOID:3316 perivascular tumor oboInOwl:hasDbXref UMLS_CUI:C1335392 semapv:UnspecifiedMatching +DOID:3316 perivascular tumor oboInOwl:hasDbXref UMLS:C1334611 semapv:UnspecifiedMatching +DOID:3316 perivascular tumor oboInOwl:hasDbXref UMLS:C1335392 semapv:UnspecifiedMatching DOID:3317 hepatic angiomyolipoma oboInOwl:hasDbXref NCI:C27485 semapv:UnspecifiedMatching -DOID:3317 hepatic angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C1333962 semapv:UnspecifiedMatching +DOID:3317 hepatic angiomyolipoma oboInOwl:hasDbXref UMLS:C1333962 semapv:UnspecifiedMatching DOID:3318 epithelioid type angiomyolipoma oboInOwl:hasDbXref NCI:C38151 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref GARD:3319 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ICDO:9174/1 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref NCI:C38153 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ORDO:538 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0349649 semapv:UnspecifiedMatching +DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS:C0349649 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis skos:exactMatch MESH:D018192 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis skos:exactMatch OMIM:606690 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref EFO:0000253 semapv:UnspecifiedMatching @@ -27845,7 +28158,7 @@ DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:Un DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref NCI:C34373 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIMPS:105400 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ORDO:803 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS_CUI:C0002736 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C0002736 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis skos:exactMatch MESH:D000690 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis skos:exactMatch OMIMPS:105400 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref GARD:7737 semapv:UnspecifiedMatching @@ -27853,74 +28166,74 @@ DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref ICD10CM:E75.02 semapv:Unspecified DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref NCI:C85184 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref UMLS_CUI:C0039373 semapv:UnspecifiedMatching +DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C0039373 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease skos:exactMatch OMIM:272800 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.0 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref MESH:D020143 semapv:UnspecifiedMatching -DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0268274 semapv:UnspecifiedMatching +DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref UMLS:C0268274 semapv:UnspecifiedMatching DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref GARD:10891 semapv:UnspecifiedMatching DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.19 semapv:UnspecifiedMatching DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 semapv:UnspecifiedMatching DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref NCI:C84739 semapv:UnspecifiedMatching -DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0085131 semapv:UnspecifiedMatching +DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C0085131 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref GARD:7604 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref ICD10CM:E75.01 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref NCI:C85052 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching -DOID:3323 Sandhoff disease oboInOwl:hasDbXref UMLS_CUI:C0036161 semapv:UnspecifiedMatching +DOID:3323 Sandhoff disease oboInOwl:hasDbXref UMLS:C0036161 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease skos:exactMatch MESH:D012497 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease skos:exactMatch OMIM:268800 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref EFO:0004247 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref ICD10CM:F39 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref MESH:D019964 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref NCI:C92200 semapv:UnspecifiedMatching -DOID:3324 mood disorder oboInOwl:hasDbXref UMLS_CUI:C0525045 semapv:UnspecifiedMatching +DOID:3324 mood disorder oboInOwl:hasDbXref UMLS:C0525045 semapv:UnspecifiedMatching DOID:3325 hyperglobulinemic purpura oboInOwl:hasDbXref MESH:D011694 semapv:UnspecifiedMatching -DOID:3325 hyperglobulinemic purpura oboInOwl:hasDbXref UMLS_CUI:C0034151 semapv:UnspecifiedMatching +DOID:3325 hyperglobulinemic purpura oboInOwl:hasDbXref UMLS:C0034151 semapv:UnspecifiedMatching DOID:3326 purpura oboInOwl:hasDbXref ICD10CM:D69.2 semapv:UnspecifiedMatching DOID:3326 purpura oboInOwl:hasDbXref MESH:D011693 semapv:UnspecifiedMatching DOID:3326 purpura oboInOwl:hasDbXref NCI:C78787 semapv:UnspecifiedMatching -DOID:3326 purpura oboInOwl:hasDbXref UMLS_CUI:C0034150 semapv:UnspecifiedMatching +DOID:3326 purpura oboInOwl:hasDbXref UMLS:C0034150 semapv:UnspecifiedMatching DOID:3326 purpura skos:exactMatch MESH:D011693 semapv:UnspecifiedMatching DOID:3327 partial motor epilepsy oboInOwl:hasDbXref MESH:D020938 semapv:UnspecifiedMatching DOID:3327 partial motor epilepsy oboInOwl:hasDbXref NCI:C50847 semapv:UnspecifiedMatching -DOID:3327 partial motor epilepsy oboInOwl:hasDbXref UMLS_CUI:C0016399 semapv:UnspecifiedMatching +DOID:3327 partial motor epilepsy oboInOwl:hasDbXref UMLS:C0016399 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref MESH:D004833 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref NCI:C177244 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref OMIMPS:600512 semapv:UnspecifiedMatching -DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014556 semapv:UnspecifiedMatching +DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C0014556 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy skos:exactMatch OMIMPS:600512 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref GARD:10287 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref MESH:D019305 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref OMIM:117100 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref ORDO:1945 semapv:UnspecifiedMatching -DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref UMLS_CUI:C0376532 semapv:UnspecifiedMatching +DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref UMLS:C0376532 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes skos:exactMatch OMIM:117100 semapv:UnspecifiedMatching DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref MESH:D020937 semapv:UnspecifiedMatching -DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref UMLS_CUI:C0752322 semapv:UnspecifiedMatching +DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref UMLS:C0752322 semapv:UnspecifiedMatching DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref MESH:D017034 semapv:UnspecifiedMatching -DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref UMLS_CUI:C0085541 semapv:UnspecifiedMatching +DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref UMLS:C0085541 semapv:UnspecifiedMatching DOID:3332 haemonchiasis oboInOwl:hasDbXref MESH:D006188 semapv:UnspecifiedMatching -DOID:3332 haemonchiasis oboInOwl:hasDbXref UMLS_CUI:C0018477 semapv:UnspecifiedMatching +DOID:3332 haemonchiasis oboInOwl:hasDbXref UMLS:C0018477 semapv:UnspecifiedMatching DOID:334 histrionic personality disorder oboInOwl:hasDbXref ICD10CM:F60.4 semapv:UnspecifiedMatching DOID:334 histrionic personality disorder oboInOwl:hasDbXref ICD9CM:301.5 semapv:UnspecifiedMatching DOID:334 histrionic personality disorder oboInOwl:hasDbXref MESH:D006677 semapv:UnspecifiedMatching DOID:334 histrionic personality disorder oboInOwl:hasDbXref NCI:C92634 semapv:UnspecifiedMatching -DOID:334 histrionic personality disorder oboInOwl:hasDbXref UMLS_CUI:C0019681 semapv:UnspecifiedMatching +DOID:334 histrionic personality disorder oboInOwl:hasDbXref UMLS:C0019681 semapv:UnspecifiedMatching DOID:3341 osteitis fibrosa oboInOwl:hasDbXref MESH:D010002 semapv:UnspecifiedMatching DOID:3341 osteitis fibrosa oboInOwl:hasDbXref NCI:C34875 semapv:UnspecifiedMatching -DOID:3341 osteitis fibrosa oboInOwl:hasDbXref UMLS_CUI:C0029405 semapv:UnspecifiedMatching +DOID:3341 osteitis fibrosa oboInOwl:hasDbXref UMLS:C0029405 semapv:UnspecifiedMatching DOID:3342 bone inflammation disease oboInOwl:hasDbXref MESH:D010000 semapv:UnspecifiedMatching -DOID:3342 bone inflammation disease oboInOwl:hasDbXref UMLS_CUI:C0029400 semapv:UnspecifiedMatching +DOID:3342 bone inflammation disease oboInOwl:hasDbXref UMLS:C0029400 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref GARD:10670 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref MESH:D009081 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref NCI:C61267 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching -DOID:3343 glycoproteinosis oboInOwl:hasDbXref UMLS_CUI:C0026697 semapv:UnspecifiedMatching +DOID:3343 glycoproteinosis oboInOwl:hasDbXref UMLS:C0026697 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis skos:exactMatch OMIM:256550 semapv:UnspecifiedMatching DOID:3345 xanthomatosis oboInOwl:hasDbXref MESH:D014973 semapv:UnspecifiedMatching -DOID:3345 xanthomatosis oboInOwl:hasDbXref UMLS_CUI:C0043325 semapv:UnspecifiedMatching +DOID:3345 xanthomatosis oboInOwl:hasDbXref UMLS:C0043325 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref GARD:7284 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref ICDO:9180/3 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref MESH:D012516 semapv:UnspecifiedMatching @@ -27928,17 +28241,17 @@ DOID:3347 osteosarcoma oboInOwl:hasDbXref MESH:D018213 semapv:UnspecifiedMatchin DOID:3347 osteosarcoma oboInOwl:hasDbXref NCI:C9145 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref OMIM:259500 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref ORDO:668 semapv:UnspecifiedMatching -DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0029463 semapv:UnspecifiedMatching -DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206639 semapv:UnspecifiedMatching +DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS:C0029463 semapv:UnspecifiedMatching +DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS:C0206639 semapv:UnspecifiedMatching DOID:3347 osteosarcoma skos:exactMatch OMIM:259500 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref NCI:C6587 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref NCI:C7059 semapv:UnspecifiedMatching -DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332517 semapv:UnspecifiedMatching -DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334699 semapv:UnspecifiedMatching +DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS:C1332517 semapv:UnspecifiedMatching +DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS:C1334699 semapv:UnspecifiedMatching DOID:3351 bone angioendothelial sarcoma oboInOwl:hasDbXref NCI:C6479 semapv:UnspecifiedMatching -DOID:3351 bone angioendothelial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332574 semapv:UnspecifiedMatching +DOID:3351 bone angioendothelial sarcoma oboInOwl:hasDbXref UMLS:C1332574 semapv:UnspecifiedMatching DOID:3352 malignant fibrous histiocytoma of bone oboInOwl:hasDbXref NCI:C8563 semapv:UnspecifiedMatching -DOID:3352 malignant fibrous histiocytoma of bone oboInOwl:hasDbXref UMLS_CUI:C0740479 semapv:UnspecifiedMatching +DOID:3352 malignant fibrous histiocytoma of bone oboInOwl:hasDbXref UMLS:C0740479 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref GARD:2327 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref ICDO:8810/3 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref MESH:D005354 semapv:UnspecifiedMatching @@ -27946,31 +28259,31 @@ DOID:3355 fibrosarcoma oboInOwl:hasDbXref MESH:D018218 semapv:UnspecifiedMatchin DOID:3355 fibrosarcoma oboInOwl:hasDbXref NCI:C3043 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref NCI:C6605 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref NCI:C7075 semapv:UnspecifiedMatching -DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0016057 semapv:UnspecifiedMatching -DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206643 semapv:UnspecifiedMatching -DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336021 semapv:UnspecifiedMatching +DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS:C0016057 semapv:UnspecifiedMatching +DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS:C0206643 semapv:UnspecifiedMatching +DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS:C1336021 semapv:UnspecifiedMatching DOID:3356 localized osteosarcoma oboInOwl:hasDbXref NCI:C7780 semapv:UnspecifiedMatching -DOID:3356 localized osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278511 semapv:UnspecifiedMatching +DOID:3356 localized osteosarcoma oboInOwl:hasDbXref UMLS:C0278511 semapv:UnspecifiedMatching DOID:3357 extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C8810 semapv:UnspecifiedMatching -DOID:3357 extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0855052 semapv:UnspecifiedMatching +DOID:3357 extraosseous osteosarcoma oboInOwl:hasDbXref UMLS:C0855052 semapv:UnspecifiedMatching DOID:3360 multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6470 semapv:UnspecifiedMatching -DOID:3360 multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334820 semapv:UnspecifiedMatching +DOID:3360 multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1334820 semapv:UnspecifiedMatching DOID:3361 childhood osteosarcoma oboInOwl:hasDbXref NCI:C6585 semapv:UnspecifiedMatching -DOID:3361 childhood osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332986 semapv:UnspecifiedMatching +DOID:3361 childhood osteosarcoma oboInOwl:hasDbXref UMLS:C1332986 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref GARD:6200 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref ICD10CM:I25.41 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref ICD9CM:414.11 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref MESH:D003323 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref NCI:C168176 semapv:UnspecifiedMatching -DOID:3362 coronary aneurysm oboInOwl:hasDbXref UMLS_CUI:C0010051 semapv:UnspecifiedMatching +DOID:3362 coronary aneurysm oboInOwl:hasDbXref UMLS:C0010051 semapv:UnspecifiedMatching DOID:3367 bone leiomyosarcoma oboInOwl:hasDbXref NCI:C7154 semapv:UnspecifiedMatching -DOID:3367 bone leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332579 semapv:UnspecifiedMatching +DOID:3367 bone leiomyosarcoma oboInOwl:hasDbXref UMLS:C1332579 semapv:UnspecifiedMatching DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref NCI:C35871 semapv:UnspecifiedMatching DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref NCI:C4835 semapv:UnspecifiedMatching DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref NCI:C6623 semapv:UnspecifiedMatching -DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C0585474 semapv:UnspecifiedMatching -DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1333481 semapv:UnspecifiedMatching -DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1334406 semapv:UnspecifiedMatching +DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS:C0585474 semapv:UnspecifiedMatching +DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS:C1333481 semapv:UnspecifiedMatching +DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS:C1334406 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref GARD:6390 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref ICDO:9364/3 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref MESH:C563168 semapv:UnspecifiedMatching @@ -27983,15 +28296,15 @@ DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7542 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7806 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C9341 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0553580 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0684337 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0796547 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0863029 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0877849 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334408 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0553580 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0684337 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0796547 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0863029 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0877849 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C1334408 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma skos:exactMatch OMIM:612219 semapv:UnspecifiedMatching DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref NCI:C5829 semapv:UnspecifiedMatching -DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263902 semapv:UnspecifiedMatching +DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref UMLS:C1263902 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref GARD:6004 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref GARD:6055 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref ICDO:9220/3 semapv:UnspecifiedMatching @@ -27999,52 +28312,52 @@ DOID:3371 chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatch DOID:3371 chondrosarcoma oboInOwl:hasDbXref NCI:C2946 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref NCI:C7155 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedMatching -DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0008479 semapv:UnspecifiedMatching -DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335473 semapv:UnspecifiedMatching +DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS:C0008479 semapv:UnspecifiedMatching +DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS:C1335473 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma skos:exactMatch OMIM:215300 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref ICDO:9181/3 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref NCI:C4021 semapv:UnspecifiedMatching -DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279603 semapv:UnspecifiedMatching +DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref UMLS:C0279603 semapv:UnspecifiedMatching DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref ICDO:9192/3 semapv:UnspecifiedMatching DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref MESH:D018217 semapv:UnspecifiedMatching DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref NCI:C8969 semapv:UnspecifiedMatching -DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206642 semapv:UnspecifiedMatching +DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref UMLS:C0206642 semapv:UnspecifiedMatching DOID:3374 peripheral osteosarcoma oboInOwl:hasDbXref NCI:C7134 semapv:UnspecifiedMatching -DOID:3374 peripheral osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332591 semapv:UnspecifiedMatching +DOID:3374 peripheral osteosarcoma oboInOwl:hasDbXref UMLS:C1332591 semapv:UnspecifiedMatching DOID:3376 bone osteosarcoma oboInOwl:hasDbXref NCI:C53707 semapv:UnspecifiedMatching -DOID:3376 bone osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0585442 semapv:UnspecifiedMatching +DOID:3376 bone osteosarcoma oboInOwl:hasDbXref UMLS:C0585442 semapv:UnspecifiedMatching DOID:3377 small cell osteogenic sarcoma oboInOwl:hasDbXref NCI:C4023 semapv:UnspecifiedMatching -DOID:3377 small cell osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279622 semapv:UnspecifiedMatching +DOID:3377 small cell osteogenic sarcoma oboInOwl:hasDbXref UMLS:C0279622 semapv:UnspecifiedMatching DOID:3379 metachronous osteosarcoma of the bone oboInOwl:hasDbXref NCI:C38157 semapv:UnspecifiedMatching -DOID:3379 metachronous osteosarcoma of the bone oboInOwl:hasDbXref UMLS_CUI:C1334704 semapv:UnspecifiedMatching +DOID:3379 metachronous osteosarcoma of the bone oboInOwl:hasDbXref UMLS:C1334704 semapv:UnspecifiedMatching DOID:3381 liposarcoma of bone oboInOwl:hasDbXref NCI:C7598 semapv:UnspecifiedMatching -DOID:3381 liposarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1332581 semapv:UnspecifiedMatching +DOID:3381 liposarcoma of bone oboInOwl:hasDbXref UMLS:C1332581 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref GARD:6913 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref ICDO:8850/3 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref NCI:C3194 semapv:UnspecifiedMatching -DOID:3382 liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0023827 semapv:UnspecifiedMatching +DOID:3382 liposarcoma oboInOwl:hasDbXref UMLS:C0023827 semapv:UnspecifiedMatching DOID:3385 bacterial vaginosis oboInOwl:hasDbXref MESH:D016585 semapv:UnspecifiedMatching DOID:3385 bacterial vaginosis oboInOwl:hasDbXref NCI:C116973 semapv:UnspecifiedMatching -DOID:3385 bacterial vaginosis oboInOwl:hasDbXref UMLS_CUI:C0085166 semapv:UnspecifiedMatching +DOID:3385 bacterial vaginosis oboInOwl:hasDbXref UMLS:C0085166 semapv:UnspecifiedMatching DOID:3388 periodontal disease oboInOwl:hasDbXref ICD10CM:K05.6 semapv:UnspecifiedMatching DOID:3388 periodontal disease oboInOwl:hasDbXref MESH:D010510 semapv:UnspecifiedMatching DOID:3388 periodontal disease oboInOwl:hasDbXref NCI:C63743 semapv:UnspecifiedMatching -DOID:3388 periodontal disease oboInOwl:hasDbXref UMLS_CUI:C0031090 semapv:UnspecifiedMatching +DOID:3388 periodontal disease oboInOwl:hasDbXref UMLS:C0031090 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref GARD:3100 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref MESH:D010214 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref NCI:C84992 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref OMIM:245000 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref ORDO:678 semapv:UnspecifiedMatching -DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref UMLS_CUI:C0030360 semapv:UnspecifiedMatching +DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref UMLS:C0030360 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease skos:exactMatch OMIM:245000 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref ICD9CM:352.4 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref MESH:D020436 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref NCI:C26953 semapv:UnspecifiedMatching -DOID:339 accessory nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152180 semapv:UnspecifiedMatching +DOID:339 accessory nerve disease oboInOwl:hasDbXref UMLS:C0152180 semapv:UnspecifiedMatching DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref GARD:8167 semapv:UnspecifiedMatching DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref ICD10CM:L85.2 semapv:UnspecifiedMatching -DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref UMLS_CUI:C0022596 semapv:UnspecifiedMatching +DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref UMLS:C0022596 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref EFO:0001645 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD10CM:I20-I25 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD10CM:I25 semapv:UnspecifiedMatching @@ -28066,51 +28379,51 @@ DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:610947 semapv:Unspecif DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:611139 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:612030 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0010054 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0010068 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0151744 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0264694 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0010054 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0010068 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0151744 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0264694 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref ICD10CM:E22.2 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref MESH:D007177 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref NCI:C3988 semapv:UnspecifiedMatching -DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref UMLS_CUI:C0021141 semapv:UnspecifiedMatching +DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref UMLS:C0021141 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome skos:exactMatch MESH:D007177 semapv:UnspecifiedMatching DOID:3405 histiocytosis oboInOwl:hasDbXref MESH:D015614 semapv:UnspecifiedMatching DOID:3405 histiocytosis oboInOwl:hasDbXref NCI:C3106 semapv:UnspecifiedMatching -DOID:3405 histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019618 semapv:UnspecifiedMatching +DOID:3405 histiocytosis oboInOwl:hasDbXref UMLS:C0019618 semapv:UnspecifiedMatching DOID:3407 carotid artery disease oboInOwl:hasDbXref MESH:D002340 semapv:UnspecifiedMatching DOID:3407 carotid artery disease oboInOwl:hasDbXref NCI:C84476 semapv:UnspecifiedMatching -DOID:3407 carotid artery disease oboInOwl:hasDbXref UMLS_CUI:C0007273 semapv:UnspecifiedMatching +DOID:3407 carotid artery disease oboInOwl:hasDbXref UMLS:C0007273 semapv:UnspecifiedMatching DOID:341 peripheral vascular disease oboInOwl:hasDbXref ICD9CM:443.81 semapv:UnspecifiedMatching DOID:341 peripheral vascular disease oboInOwl:hasDbXref MESH:D001157 semapv:UnspecifiedMatching -DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS_CUI:C0003838 semapv:UnspecifiedMatching -DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS_CUI:C0031115 semapv:UnspecifiedMatching +DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS:C0003838 semapv:UnspecifiedMatching +DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS:C0031115 semapv:UnspecifiedMatching DOID:3410 carotid artery thrombosis oboInOwl:hasDbXref MESH:D002341 semapv:UnspecifiedMatching -DOID:3410 carotid artery thrombosis oboInOwl:hasDbXref UMLS_CUI:C0007274 semapv:UnspecifiedMatching +DOID:3410 carotid artery thrombosis oboInOwl:hasDbXref UMLS:C0007274 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref GARD:6968 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref NCI:C84548 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching -DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref UMLS_CUI:C0024748 semapv:UnspecifiedMatching +DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref UMLS:C0024748 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis skos:exactMatch MESH:D008363 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis skos:exactMatch OMIM:248500 semapv:UnspecifiedMatching DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref NCI:C5828 semapv:UnspecifiedMatching -DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263900 semapv:UnspecifiedMatching +DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref UMLS:C1263900 semapv:UnspecifiedMatching DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref ICD10CM:G52 semapv:UnspecifiedMatching DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref ICD9CM:352 semapv:UnspecifiedMatching -DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0154730 semapv:UnspecifiedMatching +DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref UMLS:C0154730 semapv:UnspecifiedMatching DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref MESH:D019574 semapv:UnspecifiedMatching DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref NCI:C4801 semapv:UnspecifiedMatching -DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C0524802 semapv:UnspecifiedMatching +DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref UMLS:C0524802 semapv:UnspecifiedMatching DOID:342 subclavian artery aneurysm oboInOwl:hasDbXref ICD9CM:442.82 semapv:UnspecifiedMatching -DOID:342 subclavian artery aneurysm oboInOwl:hasDbXref UMLS_CUI:C0155746 semapv:UnspecifiedMatching +DOID:342 subclavian artery aneurysm oboInOwl:hasDbXref UMLS:C0155746 semapv:UnspecifiedMatching DOID:3421 trochlear nerve neoplasm oboInOwl:hasDbXref NCI:C5825 semapv:UnspecifiedMatching -DOID:3421 trochlear nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263896 semapv:UnspecifiedMatching +DOID:3421 trochlear nerve neoplasm oboInOwl:hasDbXref UMLS:C1263896 semapv:UnspecifiedMatching DOID:3426 vestibular disease oboInOwl:hasDbXref ICD10CM:H81.9 semapv:UnspecifiedMatching DOID:3426 vestibular disease oboInOwl:hasDbXref MESH:D015837 semapv:UnspecifiedMatching -DOID:3426 vestibular disease oboInOwl:hasDbXref UMLS_CUI:C0042594 semapv:UnspecifiedMatching +DOID:3426 vestibular disease oboInOwl:hasDbXref UMLS:C0042594 semapv:UnspecifiedMatching DOID:3428 granulomatous myositis oboInOwl:hasDbXref NCI:C27575 semapv:UnspecifiedMatching -DOID:3428 granulomatous myositis oboInOwl:hasDbXref UMLS_CUI:C1334150 semapv:UnspecifiedMatching +DOID:3428 granulomatous myositis oboInOwl:hasDbXref UMLS:C1334150 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref GARD:3896 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD10CM:G72.41 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD9CM:359.71 semapv:UnspecifiedMatching @@ -28118,102 +28431,102 @@ DOID:3429 inclusion body myositis oboInOwl:hasDbXref MESH:D018979 semapv:Unspeci DOID:3429 inclusion body myositis oboInOwl:hasDbXref NCI:C84786 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref OMIM:147421 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref ORDO:611 semapv:UnspecifiedMatching -DOID:3429 inclusion body myositis oboInOwl:hasDbXref UMLS_CUI:C0238190 semapv:UnspecifiedMatching +DOID:3429 inclusion body myositis oboInOwl:hasDbXref UMLS:C0238190 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis skos:exactMatch MESH:D018979 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis skos:exactMatch OMIM:147421 semapv:UnspecifiedMatching DOID:3431 cerebritis oboInOwl:hasDbXref NCI:C27199 semapv:UnspecifiedMatching -DOID:3431 cerebritis oboInOwl:hasDbXref UMLS_CUI:C0742115 semapv:UnspecifiedMatching +DOID:3431 cerebritis oboInOwl:hasDbXref UMLS:C0742115 semapv:UnspecifiedMatching DOID:3436 viral laryngitis oboInOwl:hasDbXref NCI:C27305 semapv:UnspecifiedMatching -DOID:3436 viral laryngitis oboInOwl:hasDbXref UMLS_CUI:C0853195 semapv:UnspecifiedMatching +DOID:3436 viral laryngitis oboInOwl:hasDbXref UMLS:C0853195 semapv:UnspecifiedMatching DOID:3437 laryngitis oboInOwl:hasDbXref MESH:D007827 semapv:UnspecifiedMatching DOID:3437 laryngitis oboInOwl:hasDbXref NCI:C26811 semapv:UnspecifiedMatching -DOID:3437 laryngitis oboInOwl:hasDbXref UMLS_CUI:C0023067 semapv:UnspecifiedMatching +DOID:3437 laryngitis oboInOwl:hasDbXref UMLS:C0023067 semapv:UnspecifiedMatching DOID:3443 mammary Paget's disease oboInOwl:hasDbXref NCI:C7073 semapv:UnspecifiedMatching -DOID:3443 mammary Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1368019 semapv:UnspecifiedMatching +DOID:3443 mammary Paget's disease oboInOwl:hasDbXref UMLS:C1368019 semapv:UnspecifiedMatching DOID:3444 scrotum Paget's disease oboInOwl:hasDbXref NCI:C7728 semapv:UnspecifiedMatching -DOID:3444 scrotum Paget's disease oboInOwl:hasDbXref UMLS_CUI:C0238330 semapv:UnspecifiedMatching +DOID:3444 scrotum Paget's disease oboInOwl:hasDbXref UMLS:C0238330 semapv:UnspecifiedMatching DOID:3445 scrotal carcinoma oboInOwl:hasDbXref NCI:C6389 semapv:UnspecifiedMatching -DOID:3445 scrotal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1370468 semapv:UnspecifiedMatching +DOID:3445 scrotal carcinoma oboInOwl:hasDbXref UMLS:C1370468 semapv:UnspecifiedMatching DOID:3446 anal Paget's disease oboInOwl:hasDbXref NCI:C5598 semapv:UnspecifiedMatching -DOID:3446 anal Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1332274 semapv:UnspecifiedMatching +DOID:3446 anal Paget's disease oboInOwl:hasDbXref UMLS:C1332274 semapv:UnspecifiedMatching DOID:3447 anus adenocarcinoma oboInOwl:hasDbXref NCI:C5600 semapv:UnspecifiedMatching -DOID:3447 anus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332257 semapv:UnspecifiedMatching +DOID:3447 anus adenocarcinoma oboInOwl:hasDbXref UMLS:C1332257 semapv:UnspecifiedMatching DOID:3448 penis Paget's disease oboInOwl:hasDbXref NCI:C27817 semapv:UnspecifiedMatching -DOID:3448 penis Paget's disease oboInOwl:hasDbXref UMLS_CUI:C0221286 semapv:UnspecifiedMatching +DOID:3448 penis Paget's disease oboInOwl:hasDbXref UMLS:C0221286 semapv:UnspecifiedMatching DOID:3449 penis carcinoma oboInOwl:hasDbXref NCI:C9061 semapv:UnspecifiedMatching -DOID:3449 penis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0853105 semapv:UnspecifiedMatching +DOID:3449 penis carcinoma oboInOwl:hasDbXref UMLS:C0853105 semapv:UnspecifiedMatching DOID:345 uterine disease oboInOwl:hasDbXref ICD10CM:N85.9 semapv:UnspecifiedMatching DOID:345 uterine disease oboInOwl:hasDbXref ICD9CM:621.9 semapv:UnspecifiedMatching DOID:345 uterine disease oboInOwl:hasDbXref MESH:D014591 semapv:UnspecifiedMatching DOID:345 uterine disease oboInOwl:hasDbXref NCI:C26907 semapv:UnspecifiedMatching -DOID:345 uterine disease oboInOwl:hasDbXref UMLS_CUI:C0042131 semapv:UnspecifiedMatching +DOID:345 uterine disease oboInOwl:hasDbXref UMLS:C0042131 semapv:UnspecifiedMatching DOID:3450 cutaneous Paget's disease oboInOwl:hasDbXref MESH:D010145 semapv:UnspecifiedMatching DOID:3450 cutaneous Paget's disease oboInOwl:hasDbXref NCI:C3302 semapv:UnspecifiedMatching DOID:3451 skin carcinoma oboInOwl:hasDbXref NCI:C4914 semapv:UnspecifiedMatching -DOID:3451 skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699893 semapv:UnspecifiedMatching +DOID:3451 skin carcinoma oboInOwl:hasDbXref UMLS:C0699893 semapv:UnspecifiedMatching DOID:3454 brain infarction oboInOwl:hasDbXref MESH:D020520 semapv:UnspecifiedMatching -DOID:3454 brain infarction oboInOwl:hasDbXref UMLS_CUI:C0751955 semapv:UnspecifiedMatching +DOID:3454 brain infarction oboInOwl:hasDbXref UMLS:C0751955 semapv:UnspecifiedMatching DOID:3456 cervix erosion oboInOwl:hasDbXref MESH:D002579 semapv:UnspecifiedMatching -DOID:3456 cervix erosion oboInOwl:hasDbXref UMLS_CUI:C0007869 semapv:UnspecifiedMatching +DOID:3456 cervix erosion oboInOwl:hasDbXref UMLS:C0007869 semapv:UnspecifiedMatching DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref MESH:D018275 semapv:UnspecifiedMatching DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref NCI:C3771 semapv:UnspecifiedMatching -DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206692 semapv:UnspecifiedMatching +DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref UMLS:C0206692 semapv:UnspecifiedMatching DOID:3458 breast adenocarcinoma oboInOwl:hasDbXref NCI:C5214 semapv:UnspecifiedMatching -DOID:3458 breast adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0858252 semapv:UnspecifiedMatching +DOID:3458 breast adenocarcinoma oboInOwl:hasDbXref UMLS:C0858252 semapv:UnspecifiedMatching DOID:3459 breast carcinoma oboInOwl:hasDbXref EFO:0000305 semapv:UnspecifiedMatching DOID:3459 breast carcinoma oboInOwl:hasDbXref MESH:D001943 semapv:UnspecifiedMatching DOID:3459 breast carcinoma oboInOwl:hasDbXref NCI:C4872 semapv:UnspecifiedMatching -DOID:3459 breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0678222 semapv:UnspecifiedMatching +DOID:3459 breast carcinoma oboInOwl:hasDbXref UMLS:C0678222 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref ICD10CM:N64.9 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref ICD9CM:610-612.99 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref MESH:D001941 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref NCI:C26709 semapv:UnspecifiedMatching -DOID:3463 breast disease oboInOwl:hasDbXref UMLS_CUI:C0006145 semapv:UnspecifiedMatching +DOID:3463 breast disease oboInOwl:hasDbXref UMLS:C0006145 semapv:UnspecifiedMatching DOID:3478 iris cancer oboInOwl:hasDbXref MESH:D015811 semapv:UnspecifiedMatching DOID:3478 iris cancer oboInOwl:hasDbXref NCI:C3142 semapv:UnspecifiedMatching DOID:3478 iris cancer oboInOwl:hasDbXref NCI:C4554 semapv:UnspecifiedMatching -DOID:3478 iris cancer oboInOwl:hasDbXref UMLS_CUI:C0022079 semapv:UnspecifiedMatching -DOID:3478 iris cancer oboInOwl:hasDbXref UMLS_CUI:C0346372 semapv:UnspecifiedMatching +DOID:3478 iris cancer oboInOwl:hasDbXref UMLS:C0022079 semapv:UnspecifiedMatching +DOID:3478 iris cancer oboInOwl:hasDbXref UMLS:C0346372 semapv:UnspecifiedMatching DOID:3479 uveal cancer oboInOwl:hasDbXref NCI:C6105 semapv:UnspecifiedMatching -DOID:3479 uveal cancer oboInOwl:hasDbXref UMLS_CUI:C3665670 semapv:UnspecifiedMatching +DOID:3479 uveal cancer oboInOwl:hasDbXref UMLS:C3665670 semapv:UnspecifiedMatching DOID:348 blepharochalasis oboInOwl:hasDbXref ICD10CM:H02.3 semapv:UnspecifiedMatching DOID:348 blepharochalasis oboInOwl:hasDbXref ICD9CM:374.34 semapv:UnspecifiedMatching -DOID:348 blepharochalasis oboInOwl:hasDbXref UMLS_CUI:C0005742 semapv:UnspecifiedMatching +DOID:348 blepharochalasis oboInOwl:hasDbXref UMLS:C0005742 semapv:UnspecifiedMatching DOID:3480 uveal disease oboInOwl:hasDbXref GARD:8192 semapv:UnspecifiedMatching DOID:3480 uveal disease oboInOwl:hasDbXref MESH:D014603 semapv:UnspecifiedMatching DOID:3480 uveal disease oboInOwl:hasDbXref NCI:C26908 semapv:UnspecifiedMatching -DOID:3480 uveal disease oboInOwl:hasDbXref UMLS_CUI:C0042161 semapv:UnspecifiedMatching +DOID:3480 uveal disease oboInOwl:hasDbXref UMLS:C0042161 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref ICD10CM:A20.7 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref ICD9CM:020.2 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching -DOID:3481 septicemic plague oboInOwl:hasDbXref UMLS_CUI:C0152936 semapv:UnspecifiedMatching +DOID:3481 septicemic plague oboInOwl:hasDbXref UMLS:C0152936 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref ICD10CM:A20 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref ICD9CM:020 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref NCI:C85015 semapv:UnspecifiedMatching -DOID:3482 plague oboInOwl:hasDbXref UMLS_CUI:C0032064 semapv:UnspecifiedMatching +DOID:3482 plague oboInOwl:hasDbXref UMLS:C0032064 semapv:UnspecifiedMatching DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref GARD:13040 semapv:UnspecifiedMatching DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref MESH:D009335 semapv:UnspecifiedMatching DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref NCI:C34840 semapv:UnspecifiedMatching -DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref UMLS_CUI:C0027538 semapv:UnspecifiedMatching +DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref UMLS:C0027538 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref ICD10CM:L03.90 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref MESH:D002481 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref NCI:C26715 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref NCI:C34454 semapv:UnspecifiedMatching -DOID:3488 cellulitis oboInOwl:hasDbXref UMLS_CUI:C0007642 semapv:UnspecifiedMatching -DOID:3488 cellulitis oboInOwl:hasDbXref UMLS_CUI:C0007646 semapv:UnspecifiedMatching +DOID:3488 cellulitis oboInOwl:hasDbXref UMLS:C0007642 semapv:UnspecifiedMatching +DOID:3488 cellulitis oboInOwl:hasDbXref UMLS:C0007646 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref GARD:8616 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref ICD10CM:D47.02 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref NCI:C9235 semapv:UnspecifiedMatching -DOID:349 systemic mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0221013 semapv:UnspecifiedMatching +DOID:349 systemic mastocytosis oboInOwl:hasDbXref UMLS:C0221013 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref GARD:10955 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref NCI:C34854 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref OMIMPS:163950 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref ORDO:648 semapv:UnspecifiedMatching -DOID:3490 Noonan syndrome oboInOwl:hasDbXref UMLS_CUI:C0028326 semapv:UnspecifiedMatching +DOID:3490 Noonan syndrome oboInOwl:hasDbXref UMLS:C0028326 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome skos:exactMatch OMIMPS:163950 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:2540 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:7831 semapv:UnspecifiedMatching @@ -28221,142 +28534,142 @@ DOID:3491 Turner syndrome oboInOwl:hasDbXref ICD10CM:Q96 semapv:UnspecifiedMatch DOID:3491 Turner syndrome oboInOwl:hasDbXref MESH:D014424 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref NCI:C26900 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref NCI:C34434 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS_CUI:C0041408 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS_CUI:C1527168 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS:C0041408 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS:C1527168 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref GARD:7051 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref ICD10CM:M35.1 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref NCI:C84892 semapv:UnspecifiedMatching -DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref UMLS_CUI:C0026272 semapv:UnspecifiedMatching +DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref UMLS:C0026272 semapv:UnspecifiedMatching DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref MESH:D018279 semapv:UnspecifiedMatching DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C3774 semapv:UnspecifiedMatching -DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206696 semapv:UnspecifiedMatching +DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0206696 semapv:UnspecifiedMatching DOID:3494 bile duct signet ring cell carcinoma oboInOwl:hasDbXref NCI:C5776 semapv:UnspecifiedMatching -DOID:3494 bile duct signet ring cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861859 semapv:UnspecifiedMatching +DOID:3494 bile duct signet ring cell carcinoma oboInOwl:hasDbXref UMLS:C0861859 semapv:UnspecifiedMatching DOID:3495 extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref NCI:C7975 semapv:UnspecifiedMatching -DOID:3495 extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279659 semapv:UnspecifiedMatching +DOID:3495 extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref UMLS:C0279659 semapv:UnspecifiedMatching DOID:3497 pancreatic signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5720 semapv:UnspecifiedMatching -DOID:3497 pancreatic signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335317 semapv:UnspecifiedMatching +DOID:3497 pancreatic signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1335317 semapv:UnspecifiedMatching DOID:3498 pancreatic ductal adenocarcinoma oboInOwl:hasDbXref NCI:C9120 semapv:UnspecifiedMatching -DOID:3498 pancreatic ductal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335302 semapv:UnspecifiedMatching +DOID:3498 pancreatic ductal adenocarcinoma oboInOwl:hasDbXref UMLS:C1335302 semapv:UnspecifiedMatching DOID:3499 gallbladder signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5745 semapv:UnspecifiedMatching -DOID:3499 gallbladder signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333758 semapv:UnspecifiedMatching +DOID:3499 gallbladder signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1333758 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref GARD:6987 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref MESH:D008415 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref NCI:C84269 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching -DOID:350 mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0024899 semapv:UnspecifiedMatching +DOID:350 mastocytosis oboInOwl:hasDbXref UMLS:C0024899 semapv:UnspecifiedMatching DOID:350 mastocytosis skos:exactMatch OMIM:154800 semapv:UnspecifiedMatching DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref NCI:C9166 semapv:UnspecifiedMatching -DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279651 semapv:UnspecifiedMatching +DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref UMLS:C0279651 semapv:UnspecifiedMatching DOID:3501 ampullary signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C6656 semapv:UnspecifiedMatching -DOID:3501 ampullary signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332249 semapv:UnspecifiedMatching +DOID:3501 ampullary signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1332249 semapv:UnspecifiedMatching DOID:3502 ampulla of Vater adenocarcinoma oboInOwl:hasDbXref NCI:C6650 semapv:UnspecifiedMatching -DOID:3502 ampulla of Vater adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332243 semapv:UnspecifiedMatching +DOID:3502 ampulla of Vater adenocarcinoma oboInOwl:hasDbXref UMLS:C1332243 semapv:UnspecifiedMatching DOID:3503 breast signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5175 semapv:UnspecifiedMatching -DOID:3503 breast signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335964 semapv:UnspecifiedMatching +DOID:3503 breast signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1335964 semapv:UnspecifiedMatching DOID:3504 prostate signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5535 semapv:UnspecifiedMatching -DOID:3504 prostate signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335520 semapv:UnspecifiedMatching +DOID:3504 prostate signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1335520 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref GARD:9569 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICDO:8832/1 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:D018223 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching -DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS_CUI:C0206647 semapv:UnspecifiedMatching +DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS:C0206647 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans skos:exactMatch OMIM:607907 semapv:UnspecifiedMatching DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref ICD9CM:593.3 semapv:UnspecifiedMatching -DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref UMLS_CUI:C0156261 semapv:UnspecifiedMatching +DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref UMLS:C0156261 semapv:UnspecifiedMatching DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref GARD:8211 semapv:UnspecifiedMatching DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref MESH:D018319 semapv:UnspecifiedMatching -DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206729 semapv:UnspecifiedMatching +DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref UMLS:C0206729 semapv:UnspecifiedMatching DOID:3516 adult fibrosarcoma oboInOwl:hasDbXref NCI:C7809 semapv:UnspecifiedMatching -DOID:3516 adult fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278595 semapv:UnspecifiedMatching +DOID:3516 adult fibrosarcoma oboInOwl:hasDbXref UMLS:C0278595 semapv:UnspecifiedMatching DOID:3517 conventional fibrosarcoma oboInOwl:hasDbXref NCI:C9429 semapv:UnspecifiedMatching -DOID:3517 conventional fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333156 semapv:UnspecifiedMatching +DOID:3517 conventional fibrosarcoma oboInOwl:hasDbXref UMLS:C1333156 semapv:UnspecifiedMatching DOID:3520 childhood fibrosarcoma oboInOwl:hasDbXref NCI:C8088 semapv:UnspecifiedMatching -DOID:3520 childhood fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279981 semapv:UnspecifiedMatching +DOID:3520 childhood fibrosarcoma oboInOwl:hasDbXref UMLS:C0279981 semapv:UnspecifiedMatching DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref ICD10CM:G46.3 semapv:UnspecifiedMatching DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref MESH:D014854 semapv:UnspecifiedMatching DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref NCI:C84807 semapv:UnspecifiedMatching -DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref UMLS_CUI:C0043019 semapv:UnspecifiedMatching +DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref UMLS:C0043019 semapv:UnspecifiedMatching DOID:3523 brain stem infarction oboInOwl:hasDbXref MESH:D020526 semapv:UnspecifiedMatching -DOID:3523 brain stem infarction oboInOwl:hasDbXref UMLS_CUI:C0521542 semapv:UnspecifiedMatching +DOID:3523 brain stem infarction oboInOwl:hasDbXref UMLS:C0521542 semapv:UnspecifiedMatching DOID:3525 middle cerebral artery infarction oboInOwl:hasDbXref MESH:D020244 semapv:UnspecifiedMatching -DOID:3525 middle cerebral artery infarction oboInOwl:hasDbXref UMLS_CUI:C0740392 semapv:UnspecifiedMatching +DOID:3525 middle cerebral artery infarction oboInOwl:hasDbXref UMLS:C0740392 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref ICD10CM:I63 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref MESH:D002544 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref NCI:C50486 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref OMIM:601367 semapv:UnspecifiedMatching -DOID:3526 cerebral infarction oboInOwl:hasDbXref UMLS_CUI:C0007785 semapv:UnspecifiedMatching +DOID:3526 cerebral infarction oboInOwl:hasDbXref UMLS:C0007785 semapv:UnspecifiedMatching DOID:3526 cerebral infarction skos:exactMatch OMIM:601367 semapv:UnspecifiedMatching DOID:3527 cerebral arterial disease oboInOwl:hasDbXref MESH:D002539 semapv:UnspecifiedMatching -DOID:3527 cerebral arterial disease oboInOwl:hasDbXref UMLS_CUI:C0007774 semapv:UnspecifiedMatching +DOID:3527 cerebral arterial disease oboInOwl:hasDbXref UMLS:C0007774 semapv:UnspecifiedMatching DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020243 semapv:UnspecifiedMatching -DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref UMLS_CUI:C0751843 semapv:UnspecifiedMatching +DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref UMLS:C0751843 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref GARD:6014 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref ICD10CM:G71.29 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref MESH:D020512 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref NCI:C83010 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref ORDO:597 semapv:UnspecifiedMatching -DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref UMLS_CUI:C0751951 semapv:UnspecifiedMatching +DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref UMLS:C0751951 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A skos:exactMatch OMIM:117000 semapv:UnspecifiedMatching DOID:3530 chronic wasting disease oboInOwl:hasDbXref MESH:D034081 semapv:UnspecifiedMatching -DOID:3530 chronic wasting disease oboInOwl:hasDbXref UMLS_CUI:C1135993 semapv:UnspecifiedMatching +DOID:3530 chronic wasting disease oboInOwl:hasDbXref UMLS:C1135993 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref GARD:8214 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref NCI:C84804 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref OMIM:254780 semapv:UnspecifiedMatching -DOID:3534 Lafora disease oboInOwl:hasDbXref UMLS_CUI:C0751783 semapv:UnspecifiedMatching +DOID:3534 Lafora disease oboInOwl:hasDbXref UMLS:C0751783 semapv:UnspecifiedMatching DOID:3534 Lafora disease skos:exactMatch OMIM:254780 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref GARD:3876 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref MESH:D020194 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref NCI:C179710 semapv:UnspecifiedMatching -DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref UMLS_CUI:C0751785 semapv:UnspecifiedMatching +DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref UMLS:C0751785 semapv:UnspecifiedMatching DOID:3540 choroid plexus cancer oboInOwl:hasDbXref MESH:D016545 semapv:UnspecifiedMatching DOID:3540 choroid plexus cancer oboInOwl:hasDbXref NCI:C3473 semapv:UnspecifiedMatching -DOID:3540 choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0085138 semapv:UnspecifiedMatching +DOID:3540 choroid plexus cancer oboInOwl:hasDbXref UMLS:C0085138 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref GARD:6025 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref ICD10CM:C71.5 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref ICD9CM:191.5 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref MESH:D002551 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref NCI:C2937 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS_CUI:C0007798 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS_CUI:C0346906 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS:C0007798 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS:C0346906 semapv:UnspecifiedMatching DOID:3542 adult choroid plexus cancer oboInOwl:hasDbXref NCI:C8568 semapv:UnspecifiedMatching -DOID:3542 adult choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0796430 semapv:UnspecifiedMatching +DOID:3542 adult choroid plexus cancer oboInOwl:hasDbXref UMLS:C0796430 semapv:UnspecifiedMatching DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref ICDO:9390/1 semapv:UnspecifiedMatching DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref NCI:C53686 semapv:UnspecifiedMatching -DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref UMLS_CUI:C1266176 semapv:UnspecifiedMatching +DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref UMLS:C1266176 semapv:UnspecifiedMatching DOID:3545 childhood choroid plexus cancer oboInOwl:hasDbXref NCI:C42080 semapv:UnspecifiedMatching -DOID:3545 childhood choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0280623 semapv:UnspecifiedMatching +DOID:3545 childhood choroid plexus cancer oboInOwl:hasDbXref UMLS:C0280623 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.22 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref ICD9CM:202.6 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref MESH:D012515 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref NCI:C9348 semapv:UnspecifiedMatching -DOID:355 mast-cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0036221 semapv:UnspecifiedMatching +DOID:355 mast-cell sarcoma oboInOwl:hasDbXref UMLS:C0036221 semapv:UnspecifiedMatching DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref GARD:7712 semapv:UnspecifiedMatching DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref MESH:D013478 semapv:UnspecifiedMatching DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref NCI:C85175 semapv:UnspecifiedMatching DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref ORDO:622099 semapv:UnspecifiedMatching -DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref UMLS_CUI:C0038828 semapv:UnspecifiedMatching +DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref UMLS:C0038828 semapv:UnspecifiedMatching DOID:3558 duodenal obstruction oboInOwl:hasDbXref ICD10CM:K31.5 semapv:UnspecifiedMatching DOID:3558 duodenal obstruction oboInOwl:hasDbXref MESH:D004380 semapv:UnspecifiedMatching DOID:3558 duodenal obstruction oboInOwl:hasDbXref NCI:C79548 semapv:UnspecifiedMatching -DOID:3558 duodenal obstruction oboInOwl:hasDbXref UMLS_CUI:C0013292 semapv:UnspecifiedMatching +DOID:3558 duodenal obstruction oboInOwl:hasDbXref UMLS:C0013292 semapv:UnspecifiedMatching DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref GARD:7488 semapv:UnspecifiedMatching DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref ICDO:8480/6 semapv:UnspecifiedMatching DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:UnspecifiedMatching DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref NCI:C3345 semapv:UnspecifiedMatching -DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref UMLS_CUI:C0033822 semapv:UnspecifiedMatching +DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref UMLS:C0033822 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref GARD:7015 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref ICD10CM:D32.9 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref ICDO:9530/0 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref NCI:C3230 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref NCI:C6971 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref UMLS_CUI:C0025286 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref UMLS_CUI:C1334698 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref UMLS:C0025286 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref UMLS:C1334698 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref ICD10CM:C22.0 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref ICD10CM:C22.9 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref ICD9CM:155.0 semapv:UnspecifiedMatching @@ -28364,31 +28677,31 @@ DOID:3571 liver cancer oboInOwl:hasDbXref ICD9CM:155.2 semapv:UnspecifiedMatchin DOID:3571 liver cancer oboInOwl:hasDbXref MESH:D008113 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref NCI:C34803 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref NCI:C7692 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0023903 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0024620 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0345904 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0854795 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref UMLS:C0023903 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref UMLS:C0024620 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref UMLS:C0345904 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref UMLS:C0854795 semapv:UnspecifiedMatching DOID:3572 intracranial sinus thrombosis oboInOwl:hasDbXref MESH:D012851 semapv:UnspecifiedMatching -DOID:3572 intracranial sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0037198 semapv:UnspecifiedMatching +DOID:3572 intracranial sinus thrombosis oboInOwl:hasDbXref UMLS:C0037198 semapv:UnspecifiedMatching DOID:3574 lateral sinus thrombosis oboInOwl:hasDbXref MESH:D020227 semapv:UnspecifiedMatching -DOID:3574 lateral sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0270639 semapv:UnspecifiedMatching +DOID:3574 lateral sinus thrombosis oboInOwl:hasDbXref UMLS:C0270639 semapv:UnspecifiedMatching DOID:3575 cavernous sinus thrombosis oboInOwl:hasDbXref MESH:D020226 semapv:UnspecifiedMatching -DOID:3575 cavernous sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0238454 semapv:UnspecifiedMatching +DOID:3575 cavernous sinus thrombosis oboInOwl:hasDbXref UMLS:C0238454 semapv:UnspecifiedMatching DOID:3576 sagittal sinus thrombosis oboInOwl:hasDbXref MESH:D020225 semapv:UnspecifiedMatching -DOID:3576 sagittal sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0338575 semapv:UnspecifiedMatching +DOID:3576 sagittal sinus thrombosis oboInOwl:hasDbXref UMLS:C0338575 semapv:UnspecifiedMatching DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref ICDO:8640/1 semapv:UnspecifiedMatching DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref MESH:D012707 semapv:UnspecifiedMatching DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref NCI:C39976 semapv:UnspecifiedMatching -DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref UMLS_CUI:C0036769 semapv:UnspecifiedMatching +DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref UMLS:C0036769 semapv:UnspecifiedMatching DOID:3578 ovarian gonadoblastoma oboInOwl:hasDbXref NCI:C39985 semapv:UnspecifiedMatching -DOID:3578 ovarian gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C1518716 semapv:UnspecifiedMatching +DOID:3578 ovarian gonadoblastoma oboInOwl:hasDbXref UMLS:C1518716 semapv:UnspecifiedMatching DOID:3579 testicular gonadoblastoma oboInOwl:hasDbXref NCI:C39911 semapv:UnspecifiedMatching -DOID:3579 testicular gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C1515283 semapv:UnspecifiedMatching +DOID:3579 testicular gonadoblastoma oboInOwl:hasDbXref UMLS:C1515283 semapv:UnspecifiedMatching DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref ICD10CM:C25.3 semapv:UnspecifiedMatching DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref ICD9CM:157.3 semapv:UnspecifiedMatching DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref MESH:D021441 semapv:UnspecifiedMatching -DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153461 semapv:UnspecifiedMatching -DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0887833 semapv:UnspecifiedMatching +DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref UMLS:C0153461 semapv:UnspecifiedMatching +DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref UMLS:C0887833 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref ICD10CM:O01 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref ICD9CM:630 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref MESH:D006828 semapv:UnspecifiedMatching @@ -28397,83 +28710,83 @@ DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C3110 semapv DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C4699 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C7887 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020217 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0278796 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1135868 semapv:UnspecifiedMatching +DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C0020217 semapv:UnspecifiedMatching +DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C0278796 semapv:UnspecifiedMatching +DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm skos:exactMatch OMIM:231090 semapv:UnspecifiedMatching DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref NCI:C6900 semapv:UnspecifiedMatching -DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS_CUI:C1266159 semapv:UnspecifiedMatching +DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS:C1266159 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref GARD:6059 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref ICD10CM:C58 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref ICDO:9100/3 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref MESH:D002822 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref NCI:C2948 semapv:UnspecifiedMatching -DOID:3594 choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0008497 semapv:UnspecifiedMatching +DOID:3594 choriocarcinoma oboInOwl:hasDbXref UMLS:C0008497 semapv:UnspecifiedMatching DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref ICDO:9104/1 semapv:UnspecifiedMatching DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref MESH:D018245 semapv:UnspecifiedMatching DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref NCI:C3757 semapv:UnspecifiedMatching -DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref UMLS_CUI:C0206666 semapv:UnspecifiedMatching +DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref UMLS:C0206666 semapv:UnspecifiedMatching DOID:3602 toxic encephalopathy oboInOwl:hasDbXref MESH:D020258 semapv:UnspecifiedMatching DOID:3602 toxic encephalopathy oboInOwl:hasDbXref NCI:C27961 semapv:UnspecifiedMatching -DOID:3602 toxic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0235032 semapv:UnspecifiedMatching +DOID:3602 toxic encephalopathy oboInOwl:hasDbXref UMLS:C0235032 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref ICDO:8470/3 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref MESH:D018282 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C3776 semapv:UnspecifiedMatching -DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206699 semapv:UnspecifiedMatching +DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0206699 semapv:UnspecifiedMatching DOID:3604 ovarian mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C4026 semapv:UnspecifiedMatching -DOID:3604 ovarian mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279665 semapv:UnspecifiedMatching +DOID:3604 ovarian mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0279665 semapv:UnspecifiedMatching DOID:3605 ovarian cystadenocarcinoma oboInOwl:hasDbXref NCI:C5228 semapv:UnspecifiedMatching -DOID:3605 ovarian cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1096638 semapv:UnspecifiedMatching +DOID:3605 ovarian cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1096638 semapv:UnspecifiedMatching DOID:3606 ovarian mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C5243 semapv:UnspecifiedMatching -DOID:3606 ovarian mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335167 semapv:UnspecifiedMatching +DOID:3606 ovarian mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1335167 semapv:UnspecifiedMatching DOID:3607 appendix mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C5511 semapv:UnspecifiedMatching -DOID:3607 appendix mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1096639 semapv:UnspecifiedMatching +DOID:3607 appendix mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1096639 semapv:UnspecifiedMatching DOID:3608 appendix adenocarcinoma oboInOwl:hasDbXref NCI:C7718 semapv:UnspecifiedMatching -DOID:3608 appendix adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0238003 semapv:UnspecifiedMatching +DOID:3608 appendix adenocarcinoma oboInOwl:hasDbXref UMLS:C0238003 semapv:UnspecifiedMatching DOID:3609 breast mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C40354 semapv:UnspecifiedMatching -DOID:3609 breast mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511318 semapv:UnspecifiedMatching +DOID:3609 breast mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1511318 semapv:UnspecifiedMatching DOID:361 cervix endometriosis oboInOwl:hasDbXref ICD10CM:N80.0 semapv:UnspecifiedMatching DOID:361 cervix endometriosis oboInOwl:hasDbXref NCI:C27623 semapv:UnspecifiedMatching -DOID:361 cervix endometriosis oboInOwl:hasDbXref UMLS_CUI:C0269107 semapv:UnspecifiedMatching +DOID:361 cervix endometriosis oboInOwl:hasDbXref UMLS:C0269107 semapv:UnspecifiedMatching DOID:3610 breast mucinous carcinoma oboInOwl:hasDbXref NCI:C9131 semapv:UnspecifiedMatching -DOID:3610 breast mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334807 semapv:UnspecifiedMatching +DOID:3610 breast mucinous carcinoma oboInOwl:hasDbXref UMLS:C1334807 semapv:UnspecifiedMatching DOID:3611 acute retinal necrosis syndrome oboInOwl:hasDbXref MESH:D015882 semapv:UnspecifiedMatching -DOID:3611 acute retinal necrosis syndrome oboInOwl:hasDbXref UMLS_CUI:C0035319 semapv:UnspecifiedMatching +DOID:3611 acute retinal necrosis syndrome oboInOwl:hasDbXref UMLS:C0035319 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref MESH:D012173 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref NCI:C115993 semapv:UnspecifiedMatching -DOID:3612 retinitis oboInOwl:hasDbXref UMLS_CUI:C0035333 semapv:UnspecifiedMatching +DOID:3612 retinitis oboInOwl:hasDbXref UMLS:C0035333 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref GARD:5984 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref NCI:C84611 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching -DOID:3613 Canavan disease oboInOwl:hasDbXref UMLS_CUI:C0206307 semapv:UnspecifiedMatching +DOID:3613 Canavan disease oboInOwl:hasDbXref UMLS:C0206307 semapv:UnspecifiedMatching DOID:3613 Canavan disease skos:exactMatch OMIM:271900 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref GARD:10771 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref NCI:C75479 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref ORDO:478 semapv:UnspecifiedMatching -DOID:3614 Kallmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0162809 semapv:UnspecifiedMatching +DOID:3614 Kallmann syndrome oboInOwl:hasDbXref UMLS:C0162809 semapv:UnspecifiedMatching DOID:3615 infiltrating angiolipoma oboInOwl:hasDbXref NCI:C7449 semapv:UnspecifiedMatching -DOID:3615 infiltrating angiolipoma oboInOwl:hasDbXref UMLS_CUI:C1305256 semapv:UnspecifiedMatching +DOID:3615 infiltrating angiolipoma oboInOwl:hasDbXref UMLS:C1305256 semapv:UnspecifiedMatching DOID:3616 angiolipoma oboInOwl:hasDbXref ICDO:8861/0 semapv:UnspecifiedMatching DOID:3616 angiolipoma oboInOwl:hasDbXref MESH:D018206 semapv:UnspecifiedMatching DOID:3616 angiolipoma oboInOwl:hasDbXref NCI:C3733 semapv:UnspecifiedMatching -DOID:3616 angiolipoma oboInOwl:hasDbXref UMLS_CUI:C0206632 semapv:UnspecifiedMatching +DOID:3616 angiolipoma oboInOwl:hasDbXref UMLS:C0206632 semapv:UnspecifiedMatching DOID:3616 angiolipoma skos:exactMatch MESH:D018206 semapv:UnspecifiedMatching DOID:3617 epidural spinal canal angiolipoma oboInOwl:hasDbXref NCI:C5424 semapv:UnspecifiedMatching -DOID:3617 epidural spinal canal angiolipoma oboInOwl:hasDbXref UMLS_CUI:C1333416 semapv:UnspecifiedMatching +DOID:3617 epidural spinal canal angiolipoma oboInOwl:hasDbXref UMLS:C1333416 semapv:UnspecifiedMatching DOID:3618 epidural spinal canal neoplasm oboInOwl:hasDbXref MESH:D015174 semapv:UnspecifiedMatching DOID:3618 epidural spinal canal neoplasm oboInOwl:hasDbXref NCI:C3019 semapv:UnspecifiedMatching -DOID:3618 epidural spinal canal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0014536 semapv:UnspecifiedMatching +DOID:3618 epidural spinal canal neoplasm oboInOwl:hasDbXref UMLS:C0014536 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref EFO:0000326 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref ICD10CM:C72.9 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref MESH:D016543 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref NCI:C4627 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref NCI:C9293 semapv:UnspecifiedMatching -DOID:3620 central nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0085136 semapv:UnspecifiedMatching -DOID:3620 central nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0348374 semapv:UnspecifiedMatching +DOID:3620 central nervous system cancer oboInOwl:hasDbXref UMLS:C0085136 semapv:UnspecifiedMatching +DOID:3620 central nervous system cancer oboInOwl:hasDbXref UMLS:C0348374 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.1 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.3 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.5 semapv:UnspecifiedMatching @@ -28489,11 +28802,11 @@ DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C26697 semapv:UnspecifiedMatchi DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27046 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27198 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27299 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0003486 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0265010 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0265012 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0741160 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C1305122 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS:C0003486 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS:C0265010 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS:C0265012 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS:C0741160 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS:C1305122 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm skos:exactMatch MESH:D001014 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm skos:exactMatch MESH:D001019 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref ICD10CM:C55 semapv:UnspecifiedMatching @@ -28501,40 +28814,40 @@ DOID:363 uterine cancer oboInOwl:hasDbXref ICD9CM:179 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref MESH:D014594 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref NCI:C3435 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref NCI:C3552 semapv:UnspecifiedMatching -DOID:363 uterine cancer oboInOwl:hasDbXref UMLS_CUI:C0042138 semapv:UnspecifiedMatching -DOID:363 uterine cancer oboInOwl:hasDbXref UMLS_CUI:C0153567 semapv:UnspecifiedMatching +DOID:363 uterine cancer oboInOwl:hasDbXref UMLS:C0042138 semapv:UnspecifiedMatching +DOID:363 uterine cancer oboInOwl:hasDbXref UMLS:C0153567 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref NCI:C84596 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 semapv:UnspecifiedMatching -DOID:3633 beta-mannosidosis oboInOwl:hasDbXref UMLS_CUI:C4048196 semapv:UnspecifiedMatching +DOID:3633 beta-mannosidosis oboInOwl:hasDbXref UMLS:C4048196 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis skos:exactMatch OMIM:248510 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref GARD:11902 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref NCI:C84647 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref OMIMPS:601462 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref ORDO:590 semapv:UnspecifiedMatching -DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref UMLS_CUI:C0751882 semapv:UnspecifiedMatching +DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref UMLS:C0751882 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome skos:exactMatch OMIMPS:601462 semapv:UnspecifiedMatching DOID:3637 childhood spinal cord tumor oboInOwl:hasDbXref NCI:C9234 semapv:UnspecifiedMatching -DOID:3637 childhood spinal cord tumor oboInOwl:hasDbXref UMLS_CUI:C1134515 semapv:UnspecifiedMatching +DOID:3637 childhood spinal cord tumor oboInOwl:hasDbXref UMLS:C1134515 semapv:UnspecifiedMatching DOID:3639 spinal cord intramedullary teratoma oboInOwl:hasDbXref NCI:C5428 semapv:UnspecifiedMatching -DOID:3639 spinal cord intramedullary teratoma oboInOwl:hasDbXref UMLS_CUI:C1334259 semapv:UnspecifiedMatching +DOID:3639 spinal cord intramedullary teratoma oboInOwl:hasDbXref UMLS:C1334259 semapv:UnspecifiedMatching DOID:3640 central nervous system teratoma oboInOwl:hasDbXref NCI:C5441 semapv:UnspecifiedMatching -DOID:3640 central nervous system teratoma oboInOwl:hasDbXref UMLS_CUI:C1332895 semapv:UnspecifiedMatching +DOID:3640 central nervous system teratoma oboInOwl:hasDbXref UMLS:C1332895 semapv:UnspecifiedMatching DOID:3641 conus medullaris neoplasm oboInOwl:hasDbXref NCI:C5443 semapv:UnspecifiedMatching -DOID:3641 conus medullaris neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333153 semapv:UnspecifiedMatching +DOID:3641 conus medullaris neoplasm oboInOwl:hasDbXref UMLS:C1333153 semapv:UnspecifiedMatching DOID:3642 empty sella syndrome oboInOwl:hasDbXref GARD:6331 semapv:UnspecifiedMatching DOID:3642 empty sella syndrome oboInOwl:hasDbXref MESH:D004652 semapv:UnspecifiedMatching DOID:3642 empty sella syndrome oboInOwl:hasDbXref NCI:C84686 semapv:UnspecifiedMatching -DOID:3642 empty sella syndrome oboInOwl:hasDbXref UMLS_CUI:C0014008 semapv:UnspecifiedMatching +DOID:3642 empty sella syndrome oboInOwl:hasDbXref UMLS:C0014008 semapv:UnspecifiedMatching DOID:3642 empty sella syndrome skos:exactMatch MESH:D004652 semapv:UnspecifiedMatching DOID:3643 sella turcica neoplasm oboInOwl:hasDbXref NCI:C4944 semapv:UnspecifiedMatching -DOID:3643 sella turcica neoplasm oboInOwl:hasDbXref UMLS_CUI:C0748616 semapv:UnspecifiedMatching +DOID:3643 sella turcica neoplasm oboInOwl:hasDbXref UMLS:C0748616 semapv:UnspecifiedMatching DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref MESH:D007029 semapv:UnspecifiedMatching DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref NCI:C3129 semapv:UnspecifiedMatching -DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020659 semapv:UnspecifiedMatching +DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref UMLS:C0020659 semapv:UnspecifiedMatching DOID:3646 necrosis of pituitary oboInOwl:hasDbXref NCI:C27066 semapv:UnspecifiedMatching -DOID:3646 necrosis of pituitary oboInOwl:hasDbXref UMLS_CUI:C0271558 semapv:UnspecifiedMatching +DOID:3646 necrosis of pituitary oboInOwl:hasDbXref UMLS:C0271558 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref GARD:4620 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref GARD:7513 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching @@ -28546,21 +28859,21 @@ DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:312170 semap DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ORDO:79243 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0034345 semapv:UnspecifiedMatching +DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref UMLS:C0034345 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref ICD10CM:N32.9 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref ICD9CM:596.9 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref MESH:D001745 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref NCI:C2900 semapv:UnspecifiedMatching -DOID:365 bladder disease oboInOwl:hasDbXref UMLS_CUI:C0005686 semapv:UnspecifiedMatching +DOID:365 bladder disease oboInOwl:hasDbXref UMLS:C0005686 semapv:UnspecifiedMatching DOID:3650 lactic acidosis oboInOwl:hasDbXref ICD10CM:E87.20 semapv:UnspecifiedMatching DOID:3650 lactic acidosis oboInOwl:hasDbXref MESH:D000140 semapv:UnspecifiedMatching DOID:3650 lactic acidosis oboInOwl:hasDbXref NCI:C98969 semapv:UnspecifiedMatching -DOID:3650 lactic acidosis oboInOwl:hasDbXref UMLS_CUI:C0001125 semapv:UnspecifiedMatching +DOID:3650 lactic acidosis oboInOwl:hasDbXref UMLS:C0001125 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref MESH:D015324 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref NCI:C85040 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching -DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0034341 semapv:UnspecifiedMatching +DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref UMLS:C0034341 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease skos:exactMatch OMIM:266150 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref GARD:6877 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref ICD10CM:G31.82 semapv:UnspecifiedMatching @@ -28568,182 +28881,182 @@ DOID:3652 Leigh disease oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMatchi DOID:3652 Leigh disease oboInOwl:hasDbXref NCI:C84814 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref ORDO:506 semapv:UnspecifiedMatching -DOID:3652 Leigh disease oboInOwl:hasDbXref UMLS_CUI:C0023264 semapv:UnspecifiedMatching +DOID:3652 Leigh disease oboInOwl:hasDbXref UMLS:C0023264 semapv:UnspecifiedMatching DOID:3652 Leigh disease skos:exactMatch OMIM:256000 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref MESH:D029461 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref NCI:C85067 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching -DOID:3659 sialuria oboInOwl:hasDbXref UMLS_CUI:C0342853 semapv:UnspecifiedMatching +DOID:3659 sialuria oboInOwl:hasDbXref UMLS:C0342853 semapv:UnspecifiedMatching DOID:3660 wheat allergy oboInOwl:hasDbXref MESH:D021182 semapv:UnspecifiedMatching -DOID:3660 wheat allergy oboInOwl:hasDbXref UMLS_CUI:C0949570 semapv:UnspecifiedMatching +DOID:3660 wheat allergy oboInOwl:hasDbXref UMLS:C0949570 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref GARD:7842 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref NCI:C7137 semapv:UnspecifiedMatching -DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref UMLS_CUI:C1136033 semapv:UnspecifiedMatching +DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C1136033 semapv:UnspecifiedMatching DOID:3664 mast cell neoplasm oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching DOID:3664 mast cell neoplasm oboInOwl:hasDbXref NCI:C9295 semapv:UnspecifiedMatching -DOID:3664 mast cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0334664 semapv:UnspecifiedMatching +DOID:3664 mast cell neoplasm oboInOwl:hasDbXref UMLS:C0334664 semapv:UnspecifiedMatching DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref GARD:12686 semapv:UnspecifiedMatching DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref NCI:C3218 semapv:UnspecifiedMatching -DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0024901 semapv:UnspecifiedMatching +DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0024901 semapv:UnspecifiedMatching DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref MESH:D054705 semapv:UnspecifiedMatching DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref NCI:C7138 semapv:UnspecifiedMatching -DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref UMLS_CUI:C0343115 semapv:UnspecifiedMatching +DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref UMLS:C0343115 semapv:UnspecifiedMatching DOID:3669 intermittent claudication oboInOwl:hasDbXref ICD10CM:I73.9 semapv:UnspecifiedMatching DOID:3669 intermittent claudication oboInOwl:hasDbXref MESH:D007383 semapv:UnspecifiedMatching -DOID:3669 intermittent claudication oboInOwl:hasDbXref UMLS_CUI:C0021775 semapv:UnspecifiedMatching +DOID:3669 intermittent claudication oboInOwl:hasDbXref UMLS:C0021775 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref ICD10CM:G52.0 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref ICD9CM:352.0 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref MESH:D020431 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref NCI:C27210 semapv:UnspecifiedMatching -DOID:367 olfactory nerve disease oboInOwl:hasDbXref UMLS_CUI:C0751937 semapv:UnspecifiedMatching +DOID:367 olfactory nerve disease oboInOwl:hasDbXref UMLS:C0751937 semapv:UnspecifiedMatching DOID:3671 pericoronitis oboInOwl:hasDbXref MESH:D010497 semapv:UnspecifiedMatching -DOID:3671 pericoronitis oboInOwl:hasDbXref UMLS_CUI:C0031055 semapv:UnspecifiedMatching +DOID:3671 pericoronitis oboInOwl:hasDbXref UMLS:C0031055 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer oboInOwl:hasDbXref GARD:7572 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer oboInOwl:hasDbXref MESH:D018335 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer oboInOwl:hasDbXref NCI:C3808 semapv:UnspecifiedMatching -DOID:3672 rhabdoid cancer oboInOwl:hasDbXref UMLS_CUI:C0206743 semapv:UnspecifiedMatching +DOID:3672 rhabdoid cancer oboInOwl:hasDbXref UMLS:C0206743 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer skos:exactMatch MESH:D018335 semapv:UnspecifiedMatching DOID:3674 kidney rhabdoid cancer oboInOwl:hasDbXref NCI:C8715 semapv:UnspecifiedMatching -DOID:3674 kidney rhabdoid cancer oboInOwl:hasDbXref UMLS_CUI:C0854917 semapv:UnspecifiedMatching +DOID:3674 kidney rhabdoid cancer oboInOwl:hasDbXref UMLS:C0854917 semapv:UnspecifiedMatching DOID:3675 childhood kidney cancer oboInOwl:hasDbXref NCI:C6563 semapv:UnspecifiedMatching -DOID:3675 childhood kidney cancer oboInOwl:hasDbXref UMLS_CUI:C1333003 semapv:UnspecifiedMatching +DOID:3675 childhood kidney cancer oboInOwl:hasDbXref UMLS:C1333003 semapv:UnspecifiedMatching DOID:3677 pulmonary plasma cell granuloma oboInOwl:hasDbXref MESH:D016726 semapv:UnspecifiedMatching -DOID:3677 pulmonary plasma cell granuloma oboInOwl:hasDbXref UMLS_CUI:C0085269 semapv:UnspecifiedMatching +DOID:3677 pulmonary plasma cell granuloma oboInOwl:hasDbXref UMLS:C0085269 semapv:UnspecifiedMatching DOID:368 cerebrum cancer oboInOwl:hasDbXref ICD9CM:191.8 semapv:UnspecifiedMatching DOID:368 cerebrum cancer oboInOwl:hasDbXref NCI:C4874 semapv:UnspecifiedMatching -DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS_CUI:C0153642 semapv:UnspecifiedMatching -DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS_CUI:C1263885 semapv:UnspecifiedMatching +DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS:C0153642 semapv:UnspecifiedMatching +DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS:C1263885 semapv:UnspecifiedMatching DOID:3683 lung benign neoplasm oboInOwl:hasDbXref MESH:D008175 semapv:UnspecifiedMatching DOID:3683 lung benign neoplasm oboInOwl:hasDbXref NCI:C3200 semapv:UnspecifiedMatching -DOID:3683 lung benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0024121 semapv:UnspecifiedMatching +DOID:3683 lung benign neoplasm oboInOwl:hasDbXref UMLS:C0024121 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref ICD10CM:E88.41 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref NCI:C84885 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching -DOID:3687 MELAS syndrome oboInOwl:hasDbXref UMLS_CUI:C0162671 semapv:UnspecifiedMatching +DOID:3687 MELAS syndrome oboInOwl:hasDbXref UMLS:C0162671 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome skos:exactMatch OMIM:540000 semapv:UnspecifiedMatching DOID:3688 plexopathy oboInOwl:hasDbXref NCI:C27744 semapv:UnspecifiedMatching -DOID:3688 plexopathy oboInOwl:hasDbXref UMLS_CUI:C1335437 semapv:UnspecifiedMatching +DOID:3688 plexopathy oboInOwl:hasDbXref UMLS:C1335437 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref ICD10CM:G54.5 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref MESH:D020968 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref NCI:C84600 semapv:UnspecifiedMatching -DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref UMLS_CUI:C0221759 semapv:UnspecifiedMatching +DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref UMLS:C0221759 semapv:UnspecifiedMatching DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref GARD:2197 semapv:UnspecifiedMatching DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref ICDO:9522/3 semapv:UnspecifiedMatching DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref MESH:D018304 semapv:UnspecifiedMatching DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref NCI:C3789 semapv:UnspecifiedMatching -DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0206717 semapv:UnspecifiedMatching +DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref UMLS:C0206717 semapv:UnspecifiedMatching DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref ICD10CM:G54.0 semapv:UnspecifiedMatching DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref MESH:D020516 semapv:UnspecifiedMatching DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref NCI:C27194 semapv:UnspecifiedMatching -DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref UMLS_CUI:C0700251 semapv:UnspecifiedMatching +DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref UMLS:C0700251 semapv:UnspecifiedMatching DOID:3691 anal colloid adenocarcinoma oboInOwl:hasDbXref NCI:C5606 semapv:UnspecifiedMatching -DOID:3691 anal colloid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332272 semapv:UnspecifiedMatching +DOID:3691 anal colloid adenocarcinoma oboInOwl:hasDbXref UMLS:C1332272 semapv:UnspecifiedMatching DOID:3692 anal canal adenocarcinoma oboInOwl:hasDbXref NCI:C7471 semapv:UnspecifiedMatching -DOID:3692 anal canal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332259 semapv:UnspecifiedMatching +DOID:3692 anal canal adenocarcinoma oboInOwl:hasDbXref UMLS:C1332259 semapv:UnspecifiedMatching DOID:3693 ampulla of Vater mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C27416 semapv:UnspecifiedMatching -DOID:3693 ampulla of Vater mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332248 semapv:UnspecifiedMatching +DOID:3693 ampulla of Vater mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1332248 semapv:UnspecifiedMatching DOID:3696 acute sanguinous otitis media oboInOwl:hasDbXref ICD9CM:381.03 semapv:UnspecifiedMatching -DOID:3696 acute sanguinous otitis media oboInOwl:hasDbXref UMLS_CUI:C0395865 semapv:UnspecifiedMatching +DOID:3696 acute sanguinous otitis media oboInOwl:hasDbXref UMLS:C0395865 semapv:UnspecifiedMatching DOID:3697 acute transudative otitis media oboInOwl:hasDbXref ICD9CM:381.0 semapv:UnspecifiedMatching -DOID:3697 acute transudative otitis media oboInOwl:hasDbXref UMLS_CUI:C0271432 semapv:UnspecifiedMatching +DOID:3697 acute transudative otitis media oboInOwl:hasDbXref UMLS:C0271432 semapv:UnspecifiedMatching DOID:3698 bile duct mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C5846 semapv:UnspecifiedMatching -DOID:3698 bile duct mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0861856 semapv:UnspecifiedMatching +DOID:3698 bile duct mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C0861856 semapv:UnspecifiedMatching DOID:3699 uterine ligament mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40137 semapv:UnspecifiedMatching -DOID:3699 uterine ligament mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557429 semapv:UnspecifiedMatching +DOID:3699 uterine ligament mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C5557429 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref ICD9CM:702 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref MESH:D012871 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref MESH:D012873 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref NCI:C156032 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref NCI:C3371 semapv:UnspecifiedMatching -DOID:37 skin disease oboInOwl:hasDbXref UMLS_CUI:C0029574 semapv:UnspecifiedMatching -DOID:37 skin disease oboInOwl:hasDbXref UMLS_CUI:C0037274 semapv:UnspecifiedMatching -DOID:37 skin disease oboInOwl:hasDbXref UMLS_CUI:C0037277 semapv:UnspecifiedMatching +DOID:37 skin disease oboInOwl:hasDbXref UMLS:C0029574 semapv:UnspecifiedMatching +DOID:37 skin disease oboInOwl:hasDbXref UMLS:C0037274 semapv:UnspecifiedMatching +DOID:37 skin disease oboInOwl:hasDbXref UMLS:C0037277 semapv:UnspecifiedMatching DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref ICD10CM:C72.2 semapv:UnspecifiedMatching DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref NCI:C4768 semapv:UnspecifiedMatching -DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C0496838 semapv:UnspecifiedMatching +DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref UMLS:C0496838 semapv:UnspecifiedMatching DOID:3700 uterine ligament adenocarcinoma oboInOwl:hasDbXref NCI:C40135 semapv:UnspecifiedMatching -DOID:3700 uterine ligament adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557428 semapv:UnspecifiedMatching +DOID:3700 uterine ligament adenocarcinoma oboInOwl:hasDbXref UMLS:C5557428 semapv:UnspecifiedMatching DOID:3701 cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C36095 semapv:UnspecifiedMatching -DOID:3701 cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332919 semapv:UnspecifiedMatching +DOID:3701 cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1332919 semapv:UnspecifiedMatching DOID:3702 cervical adenocarcinoma oboInOwl:hasDbXref NCI:C4029 semapv:UnspecifiedMatching -DOID:3702 cervical adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279672 semapv:UnspecifiedMatching +DOID:3702 cervical adenocarcinoma oboInOwl:hasDbXref UMLS:C0279672 semapv:UnspecifiedMatching DOID:3703 prostate colloid adenocarcinoma oboInOwl:hasDbXref NCI:C5537 semapv:UnspecifiedMatching -DOID:3703 prostate colloid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335513 semapv:UnspecifiedMatching +DOID:3703 prostate colloid adenocarcinoma oboInOwl:hasDbXref UMLS:C1335513 semapv:UnspecifiedMatching DOID:3704 fallopian tube mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40103 semapv:UnspecifiedMatching -DOID:3704 fallopian tube mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517119 semapv:UnspecifiedMatching +DOID:3704 fallopian tube mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1517119 semapv:UnspecifiedMatching DOID:3705 fallopian tube mucinous tumor oboInOwl:hasDbXref NCI:C40109 semapv:UnspecifiedMatching -DOID:3705 fallopian tube mucinous tumor oboInOwl:hasDbXref UMLS_CUI:C1517120 semapv:UnspecifiedMatching +DOID:3705 fallopian tube mucinous tumor oboInOwl:hasDbXref UMLS:C1517120 semapv:UnspecifiedMatching DOID:3706 fallopian tube adenocarcinoma oboInOwl:hasDbXref NCI:C6265 semapv:UnspecifiedMatching -DOID:3706 fallopian tube adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333590 semapv:UnspecifiedMatching +DOID:3706 fallopian tube adenocarcinoma oboInOwl:hasDbXref UMLS:C1333590 semapv:UnspecifiedMatching DOID:3707 endometrial mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40144 semapv:UnspecifiedMatching -DOID:3707 endometrial mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519859 semapv:UnspecifiedMatching +DOID:3707 endometrial mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1519859 semapv:UnspecifiedMatching DOID:3709 rectum mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C7973 semapv:UnspecifiedMatching -DOID:3709 rectum mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279652 semapv:UnspecifiedMatching +DOID:3709 rectum mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C0279652 semapv:UnspecifiedMatching DOID:371 extracranial neuroblastoma oboInOwl:hasDbXref NCI:C5437 semapv:UnspecifiedMatching -DOID:371 extracranial neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1333499 semapv:UnspecifiedMatching +DOID:371 extracranial neuroblastoma oboInOwl:hasDbXref UMLS:C1333499 semapv:UnspecifiedMatching DOID:3710 bladder colloid adenocarcinoma oboInOwl:hasDbXref NCI:C39837 semapv:UnspecifiedMatching -DOID:3710 bladder colloid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511193 semapv:UnspecifiedMatching +DOID:3710 bladder colloid adenocarcinoma oboInOwl:hasDbXref UMLS:C1511193 semapv:UnspecifiedMatching DOID:3711 bladder adenocarcinoma oboInOwl:hasDbXref NCI:C4032 semapv:UnspecifiedMatching -DOID:3711 bladder adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279682 semapv:UnspecifiedMatching +DOID:3711 bladder adenocarcinoma oboInOwl:hasDbXref UMLS:C0279682 semapv:UnspecifiedMatching DOID:3713 ovary adenocarcinoma oboInOwl:hasDbXref NCI:C7700 semapv:UnspecifiedMatching -DOID:3713 ovary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0948216 semapv:UnspecifiedMatching +DOID:3713 ovary adenocarcinoma oboInOwl:hasDbXref UMLS:C0948216 semapv:UnspecifiedMatching DOID:3716 mucinous stomach adenocarcinoma oboInOwl:hasDbXref NCI:C5248 semapv:UnspecifiedMatching -DOID:3716 mucinous stomach adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334809 semapv:UnspecifiedMatching +DOID:3716 mucinous stomach adenocarcinoma oboInOwl:hasDbXref UMLS:C1334809 semapv:UnspecifiedMatching DOID:3717 gastric adenocarcinoma oboInOwl:hasDbXref NCI:C4004 semapv:UnspecifiedMatching -DOID:3717 gastric adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0278701 semapv:UnspecifiedMatching +DOID:3717 gastric adenocarcinoma oboInOwl:hasDbXref UMLS:C0278701 semapv:UnspecifiedMatching DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref ICD10CM:C90.2 semapv:UnspecifiedMatching DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref NCI:C4002 semapv:UnspecifiedMatching -DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0278619 semapv:UnspecifiedMatching +DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref UMLS:C0278619 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref ICD10CM:C90.3 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref ICDO:9731/3 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref MESH:D010954 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref NCI:C9349 semapv:UnspecifiedMatching -DOID:3721 plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0032131 semapv:UnspecifiedMatching +DOID:3721 plasmacytoma oboInOwl:hasDbXref UMLS:C0032131 semapv:UnspecifiedMatching DOID:3722 solitary osseous plasmacytoma oboInOwl:hasDbXref NCI:C7812 semapv:UnspecifiedMatching -DOID:3722 solitary osseous plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0272256 semapv:UnspecifiedMatching +DOID:3722 solitary osseous plasmacytoma oboInOwl:hasDbXref UMLS:C0272256 semapv:UnspecifiedMatching DOID:3723 solitary plasmacytoma of chest wall oboInOwl:hasDbXref NCI:C6711 semapv:UnspecifiedMatching -DOID:3723 solitary plasmacytoma of chest wall oboInOwl:hasDbXref UMLS_CUI:C1332936 semapv:UnspecifiedMatching +DOID:3723 solitary plasmacytoma of chest wall oboInOwl:hasDbXref UMLS:C1332936 semapv:UnspecifiedMatching DOID:3728 acute allergic sanguinous otitis media oboInOwl:hasDbXref ICD9CM:381.06 semapv:UnspecifiedMatching -DOID:3728 acute allergic sanguinous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155420 semapv:UnspecifiedMatching +DOID:3728 acute allergic sanguinous otitis media oboInOwl:hasDbXref UMLS:C0155420 semapv:UnspecifiedMatching DOID:3733 theileriasis oboInOwl:hasDbXref MESH:D013801 semapv:UnspecifiedMatching -DOID:3733 theileriasis oboInOwl:hasDbXref UMLS_CUI:C0039753 semapv:UnspecifiedMatching +DOID:3733 theileriasis oboInOwl:hasDbXref UMLS:C0039753 semapv:UnspecifiedMatching DOID:3737 verrucous carcinoma oboInOwl:hasDbXref ICDO:8051/3 semapv:UnspecifiedMatching DOID:3737 verrucous carcinoma oboInOwl:hasDbXref MESH:D018289 semapv:UnspecifiedMatching DOID:3737 verrucous carcinoma oboInOwl:hasDbXref NCI:C3781 semapv:UnspecifiedMatching -DOID:3737 verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206706 semapv:UnspecifiedMatching +DOID:3737 verrucous carcinoma oboInOwl:hasDbXref UMLS:C0206706 semapv:UnspecifiedMatching DOID:374 nutrition disease oboInOwl:hasDbXref MESH:D009748 semapv:UnspecifiedMatching DOID:374 nutrition disease oboInOwl:hasDbXref NCI:C26836 semapv:UnspecifiedMatching -DOID:374 nutrition disease oboInOwl:hasDbXref UMLS_CUI:C3714509 semapv:UnspecifiedMatching +DOID:374 nutrition disease oboInOwl:hasDbXref UMLS:C3714509 semapv:UnspecifiedMatching DOID:3740 vulva verrucous carcinoma oboInOwl:hasDbXref NCI:C6383 semapv:UnspecifiedMatching -DOID:3740 vulva verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336983 semapv:UnspecifiedMatching +DOID:3740 vulva verrucous carcinoma oboInOwl:hasDbXref UMLS:C1336983 semapv:UnspecifiedMatching DOID:3741 bladder verrucous squamous cell carcinoma oboInOwl:hasDbXref NCI:C39832 semapv:UnspecifiedMatching -DOID:3741 bladder verrucous squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511208 semapv:UnspecifiedMatching +DOID:3741 bladder verrucous squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1511208 semapv:UnspecifiedMatching DOID:3742 bladder squamous cell carcinoma oboInOwl:hasDbXref NCI:C4031 semapv:UnspecifiedMatching -DOID:3742 bladder squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279681 semapv:UnspecifiedMatching +DOID:3742 bladder squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0279681 semapv:UnspecifiedMatching DOID:3743 cervical verrucous carcinoma oboInOwl:hasDbXref NCI:C40190 semapv:UnspecifiedMatching -DOID:3743 cervical verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516435 semapv:UnspecifiedMatching +DOID:3743 cervical verrucous carcinoma oboInOwl:hasDbXref UMLS:C1516435 semapv:UnspecifiedMatching DOID:3744 cervical squamous cell carcinoma oboInOwl:hasDbXref NCI:C4028 semapv:UnspecifiedMatching -DOID:3744 cervical squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279671 semapv:UnspecifiedMatching +DOID:3744 cervical squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0279671 semapv:UnspecifiedMatching DOID:3747 esophagus verrucous carcinoma oboInOwl:hasDbXref NCI:C27420 semapv:UnspecifiedMatching -DOID:3747 esophagus verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333470 semapv:UnspecifiedMatching +DOID:3747 esophagus verrucous carcinoma oboInOwl:hasDbXref UMLS:C1333470 semapv:UnspecifiedMatching DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077277 semapv:UnspecifiedMatching DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref NCI:C4024 semapv:UnspecifiedMatching -DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279626 semapv:UnspecifiedMatching +DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0279626 semapv:UnspecifiedMatching DOID:3749 urethral verrucous carcinoma oboInOwl:hasDbXref NCI:C39874 semapv:UnspecifiedMatching -DOID:3749 urethral verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519827 semapv:UnspecifiedMatching +DOID:3749 urethral verrucous carcinoma oboInOwl:hasDbXref UMLS:C1519827 semapv:UnspecifiedMatching DOID:3750 urethra squamous cell carcinoma oboInOwl:hasDbXref NCI:C6165 semapv:UnspecifiedMatching -DOID:3750 urethra squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336890 semapv:UnspecifiedMatching +DOID:3750 urethra squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1336890 semapv:UnspecifiedMatching DOID:3751 plantar verrucous skin carcinoma oboInOwl:hasDbXref NCI:C6811 semapv:UnspecifiedMatching -DOID:3751 plantar verrucous skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349657 semapv:UnspecifiedMatching +DOID:3751 plantar verrucous skin carcinoma oboInOwl:hasDbXref UMLS:C0349657 semapv:UnspecifiedMatching DOID:3752 larynx verrucous carcinoma oboInOwl:hasDbXref NCI:C8188 semapv:UnspecifiedMatching -DOID:3752 larynx verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280328 semapv:UnspecifiedMatching +DOID:3752 larynx verrucous carcinoma oboInOwl:hasDbXref UMLS:C0280328 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref GARD:6643 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10CM:E70.331 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MESH:D022861 semapv:UnspecifiedMatching @@ -28753,84 +29066,84 @@ DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:231531 semapv:Unspec DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:231537 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:280663 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:79430 semapv:UnspecifiedMatching -DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS_CUI:C0079504 semapv:UnspecifiedMatching +DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS:C0079504 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome skos:exactMatch OMIMPS:203300 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref MESH:D020152 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref NCI:C98815 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref OMIM:613118 semapv:UnspecifiedMatching -DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref UMLS_CUI:C0272375 semapv:UnspecifiedMatching +DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref UMLS:C0272375 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency skos:exactMatch OMIM:613118 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref GARD:4521 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref MESH:D020151 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref NCI:C99025 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref ORDO:745 semapv:UnspecifiedMatching -DOID:3756 protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C0398625 semapv:UnspecifiedMatching +DOID:3756 protein C deficiency oboInOwl:hasDbXref UMLS:C0398625 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref GARD:48 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref MESH:D030401 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref NCI:C98910 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref OMIMPS:220110 semapv:UnspecifiedMatching -DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0268237 semapv:UnspecifiedMatching +DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref UMLS:C0268237 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease skos:exactMatch OMIMPS:220110 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref NCI:C45909 semapv:UnspecifiedMatching -DOID:3763 hermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0019269 semapv:UnspecifiedMatching +DOID:3763 hermaphroditism oboInOwl:hasDbXref UMLS:C0019269 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref GARD:5576 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref NCI:C84668 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 semapv:UnspecifiedMatching -DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref UMLS_CUI:C0950121 semapv:UnspecifiedMatching +DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref UMLS:C0950121 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome skos:exactMatch OMIM:194080 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56.3 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD9CM:752.7 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref NCI:C124575 semapv:UnspecifiedMatching -DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0021193 semapv:UnspecifiedMatching -DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0033804 semapv:UnspecifiedMatching +DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS:C0021193 semapv:UnspecifiedMatching +DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS:C0033804 semapv:UnspecifiedMatching DOID:3766 leukorrhea oboInOwl:hasDbXref ICD10CM:N89.8 semapv:UnspecifiedMatching DOID:3766 leukorrhea oboInOwl:hasDbXref MESH:D007973 semapv:UnspecifiedMatching DOID:3766 leukorrhea oboInOwl:hasDbXref NCI:C34775 semapv:UnspecifiedMatching -DOID:3766 leukorrhea oboInOwl:hasDbXref UMLS_CUI:C0023533 semapv:UnspecifiedMatching +DOID:3766 leukorrhea oboInOwl:hasDbXref UMLS:C0023533 semapv:UnspecifiedMatching DOID:3767 vaginal discharge oboInOwl:hasDbXref MESH:D019522 semapv:UnspecifiedMatching -DOID:3767 vaginal discharge oboInOwl:hasDbXref UMLS_CUI:C0227791 semapv:UnspecifiedMatching +DOID:3767 vaginal discharge oboInOwl:hasDbXref UMLS:C0227791 semapv:UnspecifiedMatching DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref MESH:D011658 semapv:UnspecifiedMatching DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref NCI:C26869 semapv:UnspecifiedMatching -DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0034069 semapv:UnspecifiedMatching +DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref UMLS:C0034069 semapv:UnspecifiedMatching DOID:3772 intraventricular meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:3772 intraventricular meningioma oboInOwl:hasDbXref NCI:C5273 semapv:UnspecifiedMatching -DOID:3772 intraventricular meningioma oboInOwl:hasDbXref UMLS_CUI:C1334271 semapv:UnspecifiedMatching +DOID:3772 intraventricular meningioma oboInOwl:hasDbXref UMLS:C1334271 semapv:UnspecifiedMatching DOID:3774 chordoid glioma oboInOwl:hasDbXref ICDO:9444/1 semapv:UnspecifiedMatching DOID:3774 chordoid glioma oboInOwl:hasDbXref NCI:C5592 semapv:UnspecifiedMatching DOID:3774 chordoid glioma oboInOwl:hasDbXref ORDO:251674 semapv:UnspecifiedMatching -DOID:3774 chordoid glioma oboInOwl:hasDbXref UMLS_CUI:C1322252 semapv:UnspecifiedMatching +DOID:3774 chordoid glioma oboInOwl:hasDbXref UMLS:C1322252 semapv:UnspecifiedMatching DOID:3777 granuloma annulare oboInOwl:hasDbXref GARD:6546 semapv:UnspecifiedMatching DOID:3777 granuloma annulare oboInOwl:hasDbXref ICD10CM:L92.0 semapv:UnspecifiedMatching DOID:3777 granuloma annulare oboInOwl:hasDbXref MESH:D016460 semapv:UnspecifiedMatching DOID:3777 granuloma annulare oboInOwl:hasDbXref NCI:C3470 semapv:UnspecifiedMatching -DOID:3777 granuloma annulare oboInOwl:hasDbXref UMLS_CUI:C0085074 semapv:UnspecifiedMatching +DOID:3777 granuloma annulare oboInOwl:hasDbXref UMLS:C0085074 semapv:UnspecifiedMatching DOID:3781 anovulation oboInOwl:hasDbXref MESH:D000858 semapv:UnspecifiedMatching DOID:3781 anovulation oboInOwl:hasDbXref NCI:C34388 semapv:UnspecifiedMatching -DOID:3781 anovulation oboInOwl:hasDbXref UMLS_CUI:C0003128 semapv:UnspecifiedMatching +DOID:3781 anovulation oboInOwl:hasDbXref UMLS:C0003128 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref GARD:6123 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref MESH:D038921 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref NCI:C84643 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref OMIM:303600 semapv:UnspecifiedMatching -DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS_CUI:C0265252 semapv:UnspecifiedMatching +DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS:C0265252 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome skos:exactMatch OMIM:303600 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref ICD10CM:H61.9 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref ICD9CM:380 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref NCI:C26972 semapv:UnspecifiedMatching -DOID:379 external ear disease oboInOwl:hasDbXref UMLS_CUI:C0155388 semapv:UnspecifiedMatching +DOID:379 external ear disease oboInOwl:hasDbXref UMLS:C0155388 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref ICD10CM:J86 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref MESH:D016724 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref NCI:C45692 semapv:UnspecifiedMatching -DOID:3798 pleural empyema oboInOwl:hasDbXref UMLS_CUI:C0014013 semapv:UnspecifiedMatching +DOID:3798 pleural empyema oboInOwl:hasDbXref UMLS:C0014013 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref MESH:D003414 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref ORDO:205 semapv:UnspecifiedMatching -DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS_CUI:C0010324 semapv:UnspecifiedMatching +DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS:C0010324 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome skos:exactMatch MESH:D003414 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref GARD:10983 semapv:UnspecifiedMatching @@ -28839,11 +29152,11 @@ DOID:3805 porokeratosis oboInOwl:hasDbXref ICD9CM:692.75 semapv:UnspecifiedMatch DOID:3805 porokeratosis oboInOwl:hasDbXref MESH:D017499 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref NCI:C85019 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref OMIM:175800 semapv:UnspecifiedMatching -DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS_CUI:C0162839 semapv:UnspecifiedMatching -DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS_CUI:C0265970 semapv:UnspecifiedMatching +DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS:C0162839 semapv:UnspecifiedMatching +DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS:C0265970 semapv:UnspecifiedMatching DOID:3805 porokeratosis skos:exactMatch OMIM:175800 semapv:UnspecifiedMatching DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref NCI:C5310 semapv:UnspecifiedMatching -DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref UMLS_CUI:C1333417 semapv:UnspecifiedMatching +DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref UMLS:C1333417 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD10CM:M00-M02 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD10CM:M12.9 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD9CM:711 semapv:UnspecifiedMatching @@ -28851,25 +29164,25 @@ DOID:381 arthropathy oboInOwl:hasDbXref ICD9CM:719.90 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref MESH:D007592 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref NCI:C35760 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref NCI:C78402 semapv:UnspecifiedMatching -DOID:381 arthropathy oboInOwl:hasDbXref UMLS_CUI:C0022408 semapv:UnspecifiedMatching -DOID:381 arthropathy oboInOwl:hasDbXref UMLS_CUI:C0157749 semapv:UnspecifiedMatching +DOID:381 arthropathy oboInOwl:hasDbXref UMLS:C0022408 semapv:UnspecifiedMatching +DOID:381 arthropathy oboInOwl:hasDbXref UMLS:C0157749 semapv:UnspecifiedMatching DOID:3813 central nervous system chondroma oboInOwl:hasDbXref NCI:C7001 semapv:UnspecifiedMatching -DOID:3813 central nervous system chondroma oboInOwl:hasDbXref UMLS_CUI:C1333019 semapv:UnspecifiedMatching +DOID:3813 central nervous system chondroma oboInOwl:hasDbXref UMLS:C1333019 semapv:UnspecifiedMatching DOID:3814 soft tissue chondroma oboInOwl:hasDbXref NCI:C9482 semapv:UnspecifiedMatching DOID:3816 glossopharyngeal nerve paralysis oboInOwl:hasDbXref NCI:C27335 semapv:UnspecifiedMatching -DOID:3816 glossopharyngeal nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C5231192 semapv:UnspecifiedMatching +DOID:3816 glossopharyngeal nerve paralysis oboInOwl:hasDbXref UMLS:C5231192 semapv:UnspecifiedMatching DOID:3817 cranial nerve palsy oboInOwl:hasDbXref MESH:D003389 semapv:UnspecifiedMatching DOID:3817 cranial nerve palsy oboInOwl:hasDbXref NCI:C26941 semapv:UnspecifiedMatching -DOID:3817 cranial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0151311 semapv:UnspecifiedMatching +DOID:3817 cranial nerve palsy oboInOwl:hasDbXref UMLS:C0151311 semapv:UnspecifiedMatching DOID:3818 photoallergic dermatitis oboInOwl:hasDbXref MESH:D017454 semapv:UnspecifiedMatching -DOID:3818 photoallergic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162824 semapv:UnspecifiedMatching +DOID:3818 photoallergic dermatitis oboInOwl:hasDbXref UMLS:C0162824 semapv:UnspecifiedMatching DOID:3819 toxicodendron dermatitis oboInOwl:hasDbXref MESH:D011040 semapv:UnspecifiedMatching -DOID:3819 toxicodendron dermatitis oboInOwl:hasDbXref UMLS_CUI:C0032342 semapv:UnspecifiedMatching +DOID:3819 toxicodendron dermatitis oboInOwl:hasDbXref UMLS:C0032342 semapv:UnspecifiedMatching DOID:3821 posterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020762 semapv:UnspecifiedMatching -DOID:3821 posterior cerebral artery infarction oboInOwl:hasDbXref UMLS_CUI:C0752132 semapv:UnspecifiedMatching +DOID:3821 posterior cerebral artery infarction oboInOwl:hasDbXref UMLS:C0752132 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref GARD:7636 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref MESH:D012790 semapv:UnspecifiedMatching -DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref UMLS_CUI:C0037018 semapv:UnspecifiedMatching +DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref UMLS:C0037018 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon skos:exactMatch MESH:D012790 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref GARD:1481 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10CM:K44 semapv:UnspecifiedMatching @@ -28879,17 +29192,17 @@ DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv: DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ORDO:2140 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS_CUI:C0019284 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS:C0019284 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia skos:exactMatch ICD10CM:Q79.0 semapv:UnspecifiedMatching DOID:3828 chromophobe adenoma oboInOwl:hasDbXref ICDO:8270/0 semapv:UnspecifiedMatching DOID:3828 chromophobe adenoma oboInOwl:hasDbXref MESH:D000238 semapv:UnspecifiedMatching DOID:3828 chromophobe adenoma oboInOwl:hasDbXref NCI:C2857 semapv:UnspecifiedMatching -DOID:3828 chromophobe adenoma oboInOwl:hasDbXref UMLS_CUI:C0001432 semapv:UnspecifiedMatching +DOID:3828 chromophobe adenoma oboInOwl:hasDbXref UMLS:C0001432 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref ICDO:8272/0 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref NCI:C3329 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref OMIMPS:102200 semapv:UnspecifiedMatching -DOID:3829 pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0032000 semapv:UnspecifiedMatching +DOID:3829 pituitary adenoma oboInOwl:hasDbXref UMLS:C0032000 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma skos:exactMatch OMIMPS:102200 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref GARD:7897 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10CM:I45.6 semapv:UnspecifiedMatching @@ -28897,31 +29210,31 @@ DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD9CM:426.7 semapv:U DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref MESH:D014927 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref NCI:C35132 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref OMIM:194200 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS_CUI:C0043202 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS_CUI:C0392470 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS:C0043202 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS:C0392470 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome skos:exactMatch OMIM:194200 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref GARD:10486 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref ICDO:9350/1 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref NCI:C2964 semapv:UnspecifiedMatching -DOID:3840 craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0010276 semapv:UnspecifiedMatching +DOID:3840 craniopharyngioma oboInOwl:hasDbXref UMLS:C0010276 semapv:UnspecifiedMatching DOID:3842 skull base cancer oboInOwl:hasDbXref MESH:D019292 semapv:UnspecifiedMatching DOID:3842 skull base cancer oboInOwl:hasDbXref NCI:C4676 semapv:UnspecifiedMatching -DOID:3842 skull base cancer oboInOwl:hasDbXref UMLS_CUI:C0376527 semapv:UnspecifiedMatching +DOID:3842 skull base cancer oboInOwl:hasDbXref UMLS:C0376527 semapv:UnspecifiedMatching DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref NCI:C5125 semapv:UnspecifiedMatching DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref NCI:C5126 semapv:UnspecifiedMatching -DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333286 semapv:UnspecifiedMatching -DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334576 semapv:UnspecifiedMatching +DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS:C1333286 semapv:UnspecifiedMatching +DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS:C1334576 semapv:UnspecifiedMatching DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref ICDO:9351/1 semapv:UnspecifiedMatching DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref NCI:C4726 semapv:UnspecifiedMatching -DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0431129 semapv:UnspecifiedMatching +DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref UMLS:C0431129 semapv:UnspecifiedMatching DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref ICDO:9352/1 semapv:UnspecifiedMatching DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref NCI:C4725 semapv:UnspecifiedMatching -DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0431128 semapv:UnspecifiedMatching +DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref UMLS:C0431128 semapv:UnspecifiedMatching DOID:3850 hemangiopericytic tumor oboInOwl:hasDbXref NCI:C7076 semapv:UnspecifiedMatching -DOID:3850 hemangiopericytic tumor oboInOwl:hasDbXref UMLS_CUI:C0476144 semapv:UnspecifiedMatching +DOID:3850 hemangiopericytic tumor oboInOwl:hasDbXref UMLS:C0476144 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref GARD:7378 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10CM:Q85.89 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:UnspecifiedMatching @@ -28930,116 +29243,116 @@ DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C4733 semapv:Unspecified DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C7755 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref ORDO:2869 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0031269 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0265323 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0456487 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0031269 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0265323 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0456487 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome skos:exactMatch OMIM:175200 semapv:UnspecifiedMatching DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref NCI:C39908 semapv:UnspecifiedMatching -DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref UMLS_CUI:C0341767 semapv:UnspecifiedMatching +DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref UMLS:C0341767 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C63.9 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref ICD9CM:187.9 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref MESH:D005834 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref NCI:C3054 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref NCI:C8561 semapv:UnspecifiedMatching -DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0017417 semapv:UnspecifiedMatching -DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0153606 semapv:UnspecifiedMatching +DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS:C0017417 semapv:UnspecifiedMatching +DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS:C0153606 semapv:UnspecifiedMatching DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref ICDO:9474/3 semapv:UnspecifiedMatching DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref NCI:C6904 semapv:UnspecifiedMatching DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref ORDO:251855 semapv:UnspecifiedMatching -DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1266180 semapv:UnspecifiedMatching +DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref UMLS:C1266180 semapv:UnspecifiedMatching DOID:3860 cerebellar vermis medulloblastoma oboInOwl:hasDbXref NCI:C5401 semapv:UnspecifiedMatching -DOID:3860 cerebellar vermis medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1332903 semapv:UnspecifiedMatching +DOID:3860 cerebellar vermis medulloblastoma oboInOwl:hasDbXref UMLS:C1332903 semapv:UnspecifiedMatching DOID:3861 medullomyoblastoma oboInOwl:hasDbXref ICDO:9472/3 semapv:UnspecifiedMatching DOID:3861 medullomyoblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3861 medullomyoblastoma oboInOwl:hasDbXref NCI:C3706 semapv:UnspecifiedMatching -DOID:3861 medullomyoblastoma oboInOwl:hasDbXref UMLS_CUI:C0205833 semapv:UnspecifiedMatching +DOID:3861 medullomyoblastoma oboInOwl:hasDbXref UMLS:C0205833 semapv:UnspecifiedMatching DOID:3864 adult medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3864 adult medulloblastoma oboInOwl:hasDbXref NCI:C4011 semapv:UnspecifiedMatching -DOID:3864 adult medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0278876 semapv:UnspecifiedMatching +DOID:3864 adult medulloblastoma oboInOwl:hasDbXref UMLS:C0278876 semapv:UnspecifiedMatching DOID:3865 adult central nervous system embryonal tumor oboInOwl:hasDbXref NCI:C5411 semapv:UnspecifiedMatching -DOID:3865 adult central nervous system embryonal tumor oboInOwl:hasDbXref UMLS_CUI:C1332196 semapv:UnspecifiedMatching +DOID:3865 adult central nervous system embryonal tumor oboInOwl:hasDbXref UMLS:C1332196 semapv:UnspecifiedMatching DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref NCI:C9497 semapv:UnspecifiedMatching -DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1275668 semapv:UnspecifiedMatching +DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref UMLS:C1275668 semapv:UnspecifiedMatching DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref NCI:C3997 semapv:UnspecifiedMatching -DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0278510 semapv:UnspecifiedMatching +DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref UMLS:C0278510 semapv:UnspecifiedMatching DOID:3870 childhood central nervous system embryonal tumor oboInOwl:hasDbXref NCI:C5961 semapv:UnspecifiedMatching -DOID:3870 childhood central nervous system embryonal tumor oboInOwl:hasDbXref UMLS_CUI:C1332957 semapv:UnspecifiedMatching +DOID:3870 childhood central nervous system embryonal tumor oboInOwl:hasDbXref UMLS:C1332957 semapv:UnspecifiedMatching DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref ICDO:9471/3 semapv:UnspecifiedMatching DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref NCI:C5407 semapv:UnspecifiedMatching -DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1334970 semapv:UnspecifiedMatching +DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS:C1334970 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref ICD10CM:I80.0 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.0 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref MESH:D013924 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref NCI:C3410 semapv:UnspecifiedMatching -DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0040046 semapv:UnspecifiedMatching -DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0265057 semapv:UnspecifiedMatching +DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS:C0040046 semapv:UnspecifiedMatching +DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS:C0265057 semapv:UnspecifiedMatching DOID:3876 colonic pseudo-obstruction oboInOwl:hasDbXref MESH:D003112 semapv:UnspecifiedMatching -DOID:3876 colonic pseudo-obstruction oboInOwl:hasDbXref UMLS_CUI:C0009377 semapv:UnspecifiedMatching +DOID:3876 colonic pseudo-obstruction oboInOwl:hasDbXref UMLS:C0009377 semapv:UnspecifiedMatching DOID:3877 functional colonic disease oboInOwl:hasDbXref MESH:D003109 semapv:UnspecifiedMatching -DOID:3877 functional colonic disease oboInOwl:hasDbXref UMLS_CUI:C0009374 semapv:UnspecifiedMatching +DOID:3877 functional colonic disease oboInOwl:hasDbXref UMLS:C0009374 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref GARD:9905 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref NCI:C120083 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref OMIMPS:120435 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref ORDO:144 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS_CUI:C0009405 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS_CUI:C1333990 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C0009405 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C1333990 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome skos:exactMatch OMIMPS:120435 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref GARD:5732 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref NCI:C84536 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching -DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref UMLS_CUI:C0162565 semapv:UnspecifiedMatching +DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref UMLS:C0162565 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria skos:exactMatch OMIM:176000 semapv:UnspecifiedMatching DOID:3891 placental insufficiency oboInOwl:hasDbXref MESH:D010927 semapv:UnspecifiedMatching -DOID:3891 placental insufficiency oboInOwl:hasDbXref UMLS_CUI:C0032051 semapv:UnspecifiedMatching +DOID:3891 placental insufficiency oboInOwl:hasDbXref UMLS:C0032051 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref GARD:3010 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref ICDO:8151/3 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref MESH:D007340 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref MESH:D007516 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref NCI:C65184 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref NCI:C95598 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref UMLS_CUI:C0021670 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref UMLS_CUI:C0022134 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref UMLS:C0021670 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref UMLS:C0022134 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref ICDO:8404/0 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref MESH:D018251 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref NCI:C3760 semapv:UnspecifiedMatching -DOID:3893 hidrocystoma oboInOwl:hasDbXref UMLS_CUI:C0206672 semapv:UnspecifiedMatching +DOID:3893 hidrocystoma oboInOwl:hasDbXref UMLS:C0206672 semapv:UnspecifiedMatching DOID:3893 hidrocystoma skos:exactMatch MESH:D018251 semapv:UnspecifiedMatching DOID:3895 apocrine adenoma oboInOwl:hasDbXref ICDO:8401/0 semapv:UnspecifiedMatching DOID:3895 apocrine adenoma oboInOwl:hasDbXref NCI:C4168 semapv:UnspecifiedMatching -DOID:3895 apocrine adenoma oboInOwl:hasDbXref UMLS_CUI:C0334345 semapv:UnspecifiedMatching +DOID:3895 apocrine adenoma oboInOwl:hasDbXref UMLS:C0334345 semapv:UnspecifiedMatching DOID:3896 hidradenoma oboInOwl:hasDbXref ICDO:8402/0 semapv:UnspecifiedMatching DOID:3896 hidradenoma oboInOwl:hasDbXref MESH:D006607 semapv:UnspecifiedMatching DOID:3896 hidradenoma oboInOwl:hasDbXref NCI:C7560 semapv:UnspecifiedMatching -DOID:3896 hidradenoma oboInOwl:hasDbXref UMLS_CUI:C0019522 semapv:UnspecifiedMatching +DOID:3896 hidradenoma oboInOwl:hasDbXref UMLS:C0019522 semapv:UnspecifiedMatching DOID:3901 vulvitis oboInOwl:hasDbXref ICD10CM:N76.2 semapv:UnspecifiedMatching DOID:3901 vulvitis oboInOwl:hasDbXref MESH:D014847 semapv:UnspecifiedMatching -DOID:3901 vulvitis oboInOwl:hasDbXref UMLS_CUI:C0042996 semapv:UnspecifiedMatching +DOID:3901 vulvitis oboInOwl:hasDbXref UMLS:C0042996 semapv:UnspecifiedMatching DOID:3904 bronchus carcinoma oboInOwl:hasDbXref MESH:D002283 semapv:UnspecifiedMatching DOID:3904 bronchus carcinoma oboInOwl:hasDbXref NCI:C35875 semapv:UnspecifiedMatching -DOID:3904 bronchus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007121 semapv:UnspecifiedMatching +DOID:3904 bronchus carcinoma oboInOwl:hasDbXref UMLS:C0007121 semapv:UnspecifiedMatching DOID:3905 lung carcinoma oboInOwl:hasDbXref EFO:0001071 semapv:UnspecifiedMatching DOID:3905 lung carcinoma oboInOwl:hasDbXref NCI:C4878 semapv:UnspecifiedMatching -DOID:3905 lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C0684249 semapv:UnspecifiedMatching +DOID:3905 lung carcinoma oboInOwl:hasDbXref UMLS:C0684249 semapv:UnspecifiedMatching DOID:3906 bronchial benign neoplasm oboInOwl:hasDbXref MESH:D001984 semapv:UnspecifiedMatching -DOID:3906 bronchial benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0006264 semapv:UnspecifiedMatching +DOID:3906 bronchial benign neoplasm oboInOwl:hasDbXref UMLS:C0006264 semapv:UnspecifiedMatching DOID:3907 lung squamous cell carcinoma oboInOwl:hasDbXref NCI:C3493 semapv:UnspecifiedMatching -DOID:3907 lung squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0149782 semapv:UnspecifiedMatching +DOID:3907 lung squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0149782 semapv:UnspecifiedMatching DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref EFO:0003060 semapv:UnspecifiedMatching DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref KEGG:05223 semapv:UnspecifiedMatching DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref MESH:D002289 semapv:UnspecifiedMatching DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref NCI:C2926 semapv:UnspecifiedMatching -DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007131 semapv:UnspecifiedMatching +DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref UMLS:C0007131 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref EFO:0000571 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref GARD:5742 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref MESH:D000077192 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref NCI:C27745 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref NCI:C3512 semapv:UnspecifiedMatching -DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0152013 semapv:UnspecifiedMatching -DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335060 semapv:UnspecifiedMatching +DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS:C0152013 semapv:UnspecifiedMatching +DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS:C1335060 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref GARD:7467 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref ICD10CM:E34.8 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref MEDDRA:10036794 semapv:UnspecifiedMatching @@ -29047,95 +29360,95 @@ DOID:3911 progeria oboInOwl:hasDbXref MESH:D011371 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref NCI:C34951 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref OMIM:176670 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref ORDO:740 semapv:UnspecifiedMatching -DOID:3911 progeria oboInOwl:hasDbXref UMLS_CUI:C0033300 semapv:UnspecifiedMatching +DOID:3911 progeria oboInOwl:hasDbXref UMLS:C0033300 semapv:UnspecifiedMatching DOID:3911 progeria skos:exactMatch OMIM:176670 semapv:UnspecifiedMatching DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref NCI:C5712 semapv:UnspecifiedMatching -DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335316 semapv:UnspecifiedMatching +DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref UMLS:C1335316 semapv:UnspecifiedMatching DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref NCI:C4374 semapv:UnspecifiedMatching -DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0341486 semapv:UnspecifiedMatching +DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref UMLS:C0341486 semapv:UnspecifiedMatching DOID:3919 pancreatic serous cystic neoplasm oboInOwl:hasDbXref NCI:C41248 semapv:UnspecifiedMatching -DOID:3919 pancreatic serous cystic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518875 semapv:UnspecifiedMatching +DOID:3919 pancreatic serous cystic neoplasm oboInOwl:hasDbXref UMLS:C1518875 semapv:UnspecifiedMatching DOID:3923 diffuse lipomatosis oboInOwl:hasDbXref NCI:C6504 semapv:UnspecifiedMatching -DOID:3923 diffuse lipomatosis oboInOwl:hasDbXref UMLS_CUI:C1333298 semapv:UnspecifiedMatching +DOID:3923 diffuse lipomatosis oboInOwl:hasDbXref UMLS:C1333298 semapv:UnspecifiedMatching DOID:3924 main bronchus cancer oboInOwl:hasDbXref ICD10CM:C34.0 semapv:UnspecifiedMatching DOID:3924 main bronchus cancer oboInOwl:hasDbXref ICD9CM:162.2 semapv:UnspecifiedMatching -DOID:3924 main bronchus cancer oboInOwl:hasDbXref UMLS_CUI:C0153490 semapv:UnspecifiedMatching +DOID:3924 main bronchus cancer oboInOwl:hasDbXref UMLS:C0153490 semapv:UnspecifiedMatching DOID:3925 steroid lipomatosis oboInOwl:hasDbXref NCI:C27487 semapv:UnspecifiedMatching -DOID:3925 steroid lipomatosis oboInOwl:hasDbXref UMLS_CUI:C1336506 semapv:UnspecifiedMatching +DOID:3925 steroid lipomatosis oboInOwl:hasDbXref UMLS:C1336506 semapv:UnspecifiedMatching DOID:3926 mediastinal lipomatosis oboInOwl:hasDbXref NCI:C27488 semapv:UnspecifiedMatching -DOID:3926 mediastinal lipomatosis oboInOwl:hasDbXref UMLS_CUI:C1334662 semapv:UnspecifiedMatching +DOID:3926 mediastinal lipomatosis oboInOwl:hasDbXref UMLS:C1334662 semapv:UnspecifiedMatching DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref GARD:7350 semapv:UnspecifiedMatching DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref MESH:C535549 semapv:UnspecifiedMatching DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref NCI:C27486 semapv:UnspecifiedMatching -DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0406608 semapv:UnspecifiedMatching +DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref UMLS:C0406608 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref GARD:5750 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref ICD10CM:E88.2 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref NCI:C84540 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref UMLS_CUI:C0001529 semapv:UnspecifiedMatching +DOID:3928 adiposis dolorosa oboInOwl:hasDbXref UMLS:C0001529 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa skos:exactMatch MESH:D000274 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa skos:exactMatch OMIM:103200 semapv:UnspecifiedMatching -DOID:3930 otitis interna oboInOwl:hasDbXref UMLS_CUI:C1168225 semapv:UnspecifiedMatching +DOID:3930 otitis interna oboInOwl:hasDbXref UMLS:C1168225 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref ICD10CM:M76.81 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref MESH:D000868 semapv:UnspecifiedMatching -DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref UMLS_CUI:C0003152 semapv:UnspecifiedMatching +DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref UMLS:C0003152 semapv:UnspecifiedMatching DOID:3939 obsolete lipomatous cancer oboInOwl:hasDbXref NCI:C4501 semapv:UnspecifiedMatching -DOID:3939 obsolete lipomatous cancer oboInOwl:hasDbXref UMLS_CUI:C0346117 semapv:UnspecifiedMatching +DOID:3939 obsolete lipomatous cancer oboInOwl:hasDbXref UMLS:C0346117 semapv:UnspecifiedMatching DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref ICD10CM:E24.0 semapv:UnspecifiedMatching DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref MESH:D047748 semapv:UnspecifiedMatching DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref NCI:C113210 semapv:UnspecifiedMatching -DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref UMLS_CUI:C0221406 semapv:UnspecifiedMatching +DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref UMLS:C0221406 semapv:UnspecifiedMatching DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref MESH:D000308 semapv:UnspecifiedMatching DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref NCI:C113208 semapv:UnspecifiedMatching -DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref UMLS_CUI:C0001622 semapv:UnspecifiedMatching +DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref UMLS:C0001622 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref GARD:558 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref MESH:D018268 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref NCI:C9325 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref OMIM:202300 semapv:UnspecifiedMatching -DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206686 semapv:UnspecifiedMatching +DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref UMLS:C0206686 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma skos:exactMatch MESH:D018268 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma skos:exactMatch OMIM:202300 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD10CM:I40 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD9CM:422 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref NCI:C35206 semapv:UnspecifiedMatching -DOID:3951 acute myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155686 semapv:UnspecifiedMatching +DOID:3951 acute myocarditis oboInOwl:hasDbXref UMLS:C0155686 semapv:UnspecifiedMatching DOID:3952 adrenal cortex disease oboInOwl:hasDbXref MESH:D000303 semapv:UnspecifiedMatching -DOID:3952 adrenal cortex disease oboInOwl:hasDbXref UMLS_CUI:C0001614 semapv:UnspecifiedMatching +DOID:3952 adrenal cortex disease oboInOwl:hasDbXref UMLS:C0001614 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref GARD:5751 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref ICD10CM:C74 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref ICD9CM:194.0 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref MESH:D000310 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref NCI:C2859 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref NCI:C9338 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0001624 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0750887 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS:C0001624 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS:C0750887 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref ICD10CM:I42.3 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref NCI:C27044 semapv:UnspecifiedMatching -DOID:396 Loeffler endocarditis oboInOwl:hasDbXref UMLS_CUI:C0264834 semapv:UnspecifiedMatching +DOID:396 Loeffler endocarditis oboInOwl:hasDbXref UMLS:C0264834 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref MESH:D018263 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref NCI:C8054 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref OMIM:188470 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206682 semapv:UnspecifiedMatching +DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref UMLS:C0206682 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma skos:exactMatch OMIM:188470 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref EFO:0002892 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref NCI:C4815 semapv:UnspecifiedMatching -DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C0549473 semapv:UnspecifiedMatching +DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref UMLS:C0549473 semapv:UnspecifiedMatching DOID:3964 trabecular follicular adenocarcinoma oboInOwl:hasDbXref NCI:C46095 semapv:UnspecifiedMatching -DOID:3964 trabecular follicular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334327 semapv:UnspecifiedMatching +DOID:3964 trabecular follicular adenocarcinoma oboInOwl:hasDbXref UMLS:C0334327 semapv:UnspecifiedMatching DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref GARD:9266 semapv:UnspecifiedMatching DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref ICDO:8247/3 semapv:UnspecifiedMatching DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref NCI:C4068 semapv:UnspecifiedMatching -DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0302182 semapv:UnspecifiedMatching +DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref UMLS:C0302182 semapv:UnspecifiedMatching DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref MESH:D018265 semapv:UnspecifiedMatching DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref NCI:C7380 semapv:UnspecifiedMatching -DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206683 semapv:UnspecifiedMatching +DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref UMLS:C0206683 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref GARD:12027 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref MESH:D000077273 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref NCI:C4035 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238463 semapv:UnspecifiedMatching +DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref UMLS:C0238463 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.5 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching @@ -29143,278 +29456,278 @@ DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref NCI:C62798 semapv:Unspeci DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIMPS:115210 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ORDO:75249 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007196 semapv:UnspecifiedMatching +DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0007196 semapv:UnspecifiedMatching DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref NCI:C3879 semapv:UnspecifiedMatching -DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238462 semapv:UnspecifiedMatching +DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref UMLS:C0238462 semapv:UnspecifiedMatching DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.8 semapv:UnspecifiedMatching -DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0155699 semapv:UnspecifiedMatching +DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref UMLS:C0155699 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref GARD:6564 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref NCI:C8967 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ORDO:157850 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS_CUI:C0018523 semapv:UnspecifiedMatching +DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C0018523 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration skos:exactMatch OMIM:234200 semapv:UnspecifiedMatching DOID:3982 Meige syndrome oboInOwl:hasDbXref GARD:7008 semapv:UnspecifiedMatching DOID:3982 Meige syndrome oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching -DOID:3982 Meige syndrome oboInOwl:hasDbXref UMLS_CUI:C0025183 semapv:UnspecifiedMatching +DOID:3982 Meige syndrome oboInOwl:hasDbXref UMLS:C0025183 semapv:UnspecifiedMatching DOID:3983 oesophagostomiasis oboInOwl:hasDbXref MESH:D009814 semapv:UnspecifiedMatching -DOID:3983 oesophagostomiasis oboInOwl:hasDbXref UMLS_CUI:C0028887 semapv:UnspecifiedMatching +DOID:3983 oesophagostomiasis oboInOwl:hasDbXref UMLS:C0028887 semapv:UnspecifiedMatching DOID:3985 ostertagiasis oboInOwl:hasDbXref MESH:D010029 semapv:UnspecifiedMatching -DOID:3985 ostertagiasis oboInOwl:hasDbXref UMLS_CUI:C0029471 semapv:UnspecifiedMatching +DOID:3985 ostertagiasis oboInOwl:hasDbXref UMLS:C0029471 semapv:UnspecifiedMatching DOID:399 tuberculosis oboInOwl:hasDbXref GARD:7827 semapv:UnspecifiedMatching DOID:399 tuberculosis oboInOwl:hasDbXref MESH:D014375 semapv:UnspecifiedMatching -DOID:399 tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041295 semapv:UnspecifiedMatching +DOID:399 tuberculosis oboInOwl:hasDbXref UMLS:C0041295 semapv:UnspecifiedMatching DOID:399 tuberculosis skos:exactMatch MESH:D014376 semapv:UnspecifiedMatching DOID:3996 urinary system cancer oboInOwl:hasDbXref ICD10CM:C68.9 semapv:UnspecifiedMatching DOID:3996 urinary system cancer oboInOwl:hasDbXref ICD9CM:189.9 semapv:UnspecifiedMatching -DOID:3996 urinary system cancer oboInOwl:hasDbXref UMLS_CUI:C0348371 semapv:UnspecifiedMatching +DOID:3996 urinary system cancer oboInOwl:hasDbXref UMLS:C0348371 semapv:UnspecifiedMatching DOID:3998 Bartholin's gland transitional cell carcinoma oboInOwl:hasDbXref NCI:C40297 semapv:UnspecifiedMatching -DOID:3998 Bartholin's gland transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511053 semapv:UnspecifiedMatching +DOID:3998 Bartholin's gland transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1511053 semapv:UnspecifiedMatching DOID:3999 Bartholin's gland carcinoma oboInOwl:hasDbXref NCI:C9055 semapv:UnspecifiedMatching -DOID:3999 Bartholin's gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349561 semapv:UnspecifiedMatching +DOID:3999 Bartholin's gland carcinoma oboInOwl:hasDbXref UMLS:C0349561 semapv:UnspecifiedMatching DOID:4 disease oboInOwl:hasDbXref MESH:D004194 semapv:UnspecifiedMatching DOID:4 disease oboInOwl:hasDbXref NCI:C2991 semapv:UnspecifiedMatching -DOID:4 disease oboInOwl:hasDbXref UMLS_CUI:C0012634 semapv:UnspecifiedMatching +DOID:4 disease oboInOwl:hasDbXref UMLS:C0012634 semapv:UnspecifiedMatching DOID:4000 ovary transitional cell carcinoma oboInOwl:hasDbXref NCI:C5240 semapv:UnspecifiedMatching -DOID:4000 ovary transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335184 semapv:UnspecifiedMatching +DOID:4000 ovary transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1335184 semapv:UnspecifiedMatching DOID:4001 ovarian carcinoma oboInOwl:hasDbXref EFO:0001075 semapv:UnspecifiedMatching -DOID:4001 ovarian carcinoma oboInOwl:hasDbXref UMLS_CUI:C0677886 semapv:UnspecifiedMatching +DOID:4001 ovarian carcinoma oboInOwl:hasDbXref UMLS:C0677886 semapv:UnspecifiedMatching DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref ICDO:8121/3 semapv:UnspecifiedMatching DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref NCI:C54287 semapv:UnspecifiedMatching -DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334270 semapv:UnspecifiedMatching +DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref UMLS:C0334270 semapv:UnspecifiedMatching DOID:4005 endometrial transitional cell carcinoma oboInOwl:hasDbXref NCI:C40154 semapv:UnspecifiedMatching -DOID:4005 endometrial transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516864 semapv:UnspecifiedMatching +DOID:4005 endometrial transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1516864 semapv:UnspecifiedMatching DOID:4006 bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39851 semapv:UnspecifiedMatching -DOID:4006 bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279680 semapv:UnspecifiedMatching +DOID:4006 bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C0279680 semapv:UnspecifiedMatching DOID:4007 bladder carcinoma oboInOwl:hasDbXref EFO:0000292 semapv:UnspecifiedMatching DOID:4007 bladder carcinoma oboInOwl:hasDbXref NCI:C4912 semapv:UnspecifiedMatching -DOID:4007 bladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699885 semapv:UnspecifiedMatching +DOID:4007 bladder carcinoma oboInOwl:hasDbXref UMLS:C0699885 semapv:UnspecifiedMatching DOID:4008 fallopian tube transitional cell carcinoma oboInOwl:hasDbXref NCI:C40104 semapv:UnspecifiedMatching -DOID:4008 fallopian tube transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517128 semapv:UnspecifiedMatching +DOID:4008 fallopian tube transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1517128 semapv:UnspecifiedMatching DOID:401 multidrug-resistant tuberculosis oboInOwl:hasDbXref MESH:D018088 semapv:UnspecifiedMatching DOID:401 multidrug-resistant tuberculosis oboInOwl:hasDbXref NCI:C128415 semapv:UnspecifiedMatching -DOID:401 multidrug-resistant tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0206526 semapv:UnspecifiedMatching +DOID:401 multidrug-resistant tuberculosis oboInOwl:hasDbXref UMLS:C0206526 semapv:UnspecifiedMatching DOID:4012 papillary transitional carcinoma oboInOwl:hasDbXref NCI:C4122 semapv:UnspecifiedMatching -DOID:4012 papillary transitional carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334274 semapv:UnspecifiedMatching +DOID:4012 papillary transitional carcinoma oboInOwl:hasDbXref UMLS:C0334274 semapv:UnspecifiedMatching DOID:4013 urethra transitional cell carcinoma oboInOwl:hasDbXref NCI:C6166 semapv:UnspecifiedMatching -DOID:4013 urethra transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0863015 semapv:UnspecifiedMatching +DOID:4013 urethra transitional cell carcinoma oboInOwl:hasDbXref UMLS:C0863015 semapv:UnspecifiedMatching DOID:4014 sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref NCI:C4120 semapv:UnspecifiedMatching -DOID:4014 sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334271 semapv:UnspecifiedMatching +DOID:4014 sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS:C0334271 semapv:UnspecifiedMatching DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref MESH:D002277 semapv:UnspecifiedMatching DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C27004 semapv:UnspecifiedMatching -DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0205697 semapv:UnspecifiedMatching +DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref UMLS:C0205697 semapv:UnspecifiedMatching DOID:402 oral tuberculosis oboInOwl:hasDbXref MESH:D014393 semapv:UnspecifiedMatching -DOID:402 oral tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041323 semapv:UnspecifiedMatching +DOID:402 oral tuberculosis oboInOwl:hasDbXref UMLS:C0041323 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref MESH:D014518 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref NCI:C123159 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref OMIM:191650 semapv:UnspecifiedMatching -DOID:4022 ureterocele oboInOwl:hasDbXref UMLS_CUI:C0041960 semapv:UnspecifiedMatching +DOID:4022 ureterocele oboInOwl:hasDbXref UMLS:C0041960 semapv:UnspecifiedMatching DOID:4022 ureterocele skos:exactMatch OMIM:191650 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref ICDO:8142/3 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref MESH:D008039 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref NCI:C3190 semapv:UnspecifiedMatching -DOID:4023 linitis plastica oboInOwl:hasDbXref UMLS_CUI:C0023743 semapv:UnspecifiedMatching +DOID:4023 linitis plastica oboInOwl:hasDbXref UMLS:C0023743 semapv:UnspecifiedMatching DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref ICDO:8141/3 semapv:UnspecifiedMatching DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref MESH:D002293 semapv:UnspecifiedMatching DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref NCI:C2928 semapv:UnspecifiedMatching -DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007135 semapv:UnspecifiedMatching +DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref UMLS:C0007135 semapv:UnspecifiedMatching DOID:4025 obsolete steatitis oboInOwl:hasDbXref MESH:D013231 semapv:UnspecifiedMatching -DOID:4025 obsolete steatitis oboInOwl:hasDbXref UMLS_CUI:C0038235 semapv:UnspecifiedMatching +DOID:4025 obsolete steatitis oboInOwl:hasDbXref UMLS:C0038235 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ICD10CM:L81.7 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref NCI:C3926 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ORDO:95429 semapv:UnspecifiedMatching -DOID:4028 angioma serpiginosum oboInOwl:hasDbXref UMLS_CUI:C0263637 semapv:UnspecifiedMatching +DOID:4028 angioma serpiginosum oboInOwl:hasDbXref UMLS:C0263637 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref ICD10CM:K29.7 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref MESH:D005756 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref NCI:C26780 semapv:UnspecifiedMatching -DOID:4029 gastritis oboInOwl:hasDbXref UMLS_CUI:C0017152 semapv:UnspecifiedMatching +DOID:4029 gastritis oboInOwl:hasDbXref UMLS:C0017152 semapv:UnspecifiedMatching DOID:403 mouth disease oboInOwl:hasDbXref MESH:D009059 semapv:UnspecifiedMatching DOID:403 mouth disease oboInOwl:hasDbXref NCI:C27641 semapv:UnspecifiedMatching -DOID:403 mouth disease oboInOwl:hasDbXref UMLS_CUI:C0026636 semapv:UnspecifiedMatching +DOID:403 mouth disease oboInOwl:hasDbXref UMLS:C0026636 semapv:UnspecifiedMatching DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref ICD9CM:535.7 semapv:UnspecifiedMatching DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref NCI:C27052 semapv:UnspecifiedMatching -DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref UMLS_CUI:C0267154 semapv:UnspecifiedMatching +DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref UMLS:C0267154 semapv:UnspecifiedMatching DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref ICD9CM:558.41 semapv:UnspecifiedMatching DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref NCI:C35330 semapv:UnspecifiedMatching -DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS_CUI:C1262481 semapv:UnspecifiedMatching +DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS:C1262481 semapv:UnspecifiedMatching DOID:4033 bacterial gastritis oboInOwl:hasDbXref NCI:C27340 semapv:UnspecifiedMatching -DOID:4033 bacterial gastritis oboInOwl:hasDbXref UMLS_CUI:C0948039 semapv:UnspecifiedMatching +DOID:4033 bacterial gastritis oboInOwl:hasDbXref UMLS:C0948039 semapv:UnspecifiedMatching DOID:4034 fungal gastritis oboInOwl:hasDbXref NCI:C27342 semapv:UnspecifiedMatching -DOID:4034 fungal gastritis oboInOwl:hasDbXref UMLS_CUI:C0948638 semapv:UnspecifiedMatching +DOID:4034 fungal gastritis oboInOwl:hasDbXref UMLS:C0948638 semapv:UnspecifiedMatching DOID:4035 lymphocytic gastritis oboInOwl:hasDbXref NCI:C27051 semapv:UnspecifiedMatching -DOID:4035 lymphocytic gastritis oboInOwl:hasDbXref UMLS_CUI:C1283271 semapv:UnspecifiedMatching +DOID:4035 lymphocytic gastritis oboInOwl:hasDbXref UMLS:C1283271 semapv:UnspecifiedMatching DOID:4037 necrotizing gastritis oboInOwl:hasDbXref NCI:C27329 semapv:UnspecifiedMatching -DOID:4037 necrotizing gastritis oboInOwl:hasDbXref UMLS_CUI:C0877152 semapv:UnspecifiedMatching +DOID:4037 necrotizing gastritis oboInOwl:hasDbXref UMLS:C0877152 semapv:UnspecifiedMatching DOID:4038 granulomatous gastritis oboInOwl:hasDbXref ICD10CM:K29.6 semapv:UnspecifiedMatching DOID:4038 granulomatous gastritis oboInOwl:hasDbXref NCI:C27348 semapv:UnspecifiedMatching -DOID:4038 granulomatous gastritis oboInOwl:hasDbXref UMLS_CUI:C1112577 semapv:UnspecifiedMatching +DOID:4038 granulomatous gastritis oboInOwl:hasDbXref UMLS:C1112577 semapv:UnspecifiedMatching DOID:404 gastrointestinal tuberculosis oboInOwl:hasDbXref MESH:D014385 semapv:UnspecifiedMatching -DOID:404 gastrointestinal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041312 semapv:UnspecifiedMatching +DOID:404 gastrointestinal tuberculosis oboInOwl:hasDbXref UMLS:C0041312 semapv:UnspecifiedMatching DOID:4043 skeletal muscle cancer oboInOwl:hasDbXref NCI:C6516 semapv:UnspecifiedMatching -DOID:4043 skeletal muscle cancer oboInOwl:hasDbXref UMLS_CUI:C1334619 semapv:UnspecifiedMatching +DOID:4043 skeletal muscle cancer oboInOwl:hasDbXref UMLS:C1334619 semapv:UnspecifiedMatching DOID:4044 skeletal muscle neoplasm oboInOwl:hasDbXref NCI:C6514 semapv:UnspecifiedMatching -DOID:4044 skeletal muscle neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335971 semapv:UnspecifiedMatching +DOID:4044 skeletal muscle neoplasm oboInOwl:hasDbXref UMLS:C1335971 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref ICD10CM:C49 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref MESH:D009217 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref MESH:D019042 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref NCI:C4883 semapv:UnspecifiedMatching -DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS_CUI:C0027095 semapv:UnspecifiedMatching -DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS_CUI:C0684743 semapv:UnspecifiedMatching +DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS:C0027095 semapv:UnspecifiedMatching +DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS:C0684743 semapv:UnspecifiedMatching DOID:4047 liver rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5834 semapv:UnspecifiedMatching -DOID:4047 liver rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333975 semapv:UnspecifiedMatching +DOID:4047 liver rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1333975 semapv:UnspecifiedMatching DOID:4048 central nervous system rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5464 semapv:UnspecifiedMatching -DOID:4048 central nervous system rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332891 semapv:UnspecifiedMatching +DOID:4048 central nervous system rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332891 semapv:UnspecifiedMatching DOID:4049 mediastinum rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6617 semapv:UnspecifiedMatching -DOID:4049 mediastinum rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334677 semapv:UnspecifiedMatching +DOID:4049 mediastinum rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1334677 semapv:UnspecifiedMatching DOID:4050 mediastinum sarcoma oboInOwl:hasDbXref NCI:C6606 semapv:UnspecifiedMatching -DOID:4050 mediastinum sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334678 semapv:UnspecifiedMatching +DOID:4050 mediastinum sarcoma oboInOwl:hasDbXref UMLS:C1334678 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref GARD:4701 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8920/3 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3749 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7958 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206655 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279613 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206655 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0279613 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma skos:exactMatch OMIM:268220 semapv:UnspecifiedMatching DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5627 semapv:UnspecifiedMatching -DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335687 semapv:UnspecifiedMatching +DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335687 semapv:UnspecifiedMatching DOID:4054 prostate sarcoma oboInOwl:hasDbXref NCI:C7731 semapv:UnspecifiedMatching -DOID:4054 prostate sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238393 semapv:UnspecifiedMatching +DOID:4054 prostate sarcoma oboInOwl:hasDbXref UMLS:C0238393 semapv:UnspecifiedMatching DOID:4055 ectomesenchymoma oboInOwl:hasDbXref ICDO:8921/3 semapv:UnspecifiedMatching DOID:4055 ectomesenchymoma oboInOwl:hasDbXref NCI:C4716 semapv:UnspecifiedMatching -DOID:4055 ectomesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0431111 semapv:UnspecifiedMatching +DOID:4055 ectomesenchymoma oboInOwl:hasDbXref UMLS:C0431111 semapv:UnspecifiedMatching DOID:4057 gallbladder rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5839 semapv:UnspecifiedMatching -DOID:4057 gallbladder rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333756 semapv:UnspecifiedMatching +DOID:4057 gallbladder rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1333756 semapv:UnspecifiedMatching DOID:4058 gallbladder sarcoma oboInOwl:hasDbXref NCI:C5736 semapv:UnspecifiedMatching -DOID:4058 gallbladder sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333757 semapv:UnspecifiedMatching +DOID:4058 gallbladder sarcoma oboInOwl:hasDbXref UMLS:C1333757 semapv:UnspecifiedMatching DOID:4059 ovary rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5236 semapv:UnspecifiedMatching -DOID:4059 ovary rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335176 semapv:UnspecifiedMatching +DOID:4059 ovary rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335176 semapv:UnspecifiedMatching DOID:4060 breast rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5190 semapv:UnspecifiedMatching -DOID:4060 breast rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332637 semapv:UnspecifiedMatching +DOID:4060 breast rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332637 semapv:UnspecifiedMatching DOID:4061 testis rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6378 semapv:UnspecifiedMatching -DOID:4061 testis rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336726 semapv:UnspecifiedMatching +DOID:4061 testis rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1336726 semapv:UnspecifiedMatching DOID:4062 testis sarcoma oboInOwl:hasDbXref NCI:C6359 semapv:UnspecifiedMatching -DOID:4062 testis sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336727 semapv:UnspecifiedMatching +DOID:4062 testis sarcoma oboInOwl:hasDbXref UMLS:C1336727 semapv:UnspecifiedMatching DOID:4064 bile duct sarcoma oboInOwl:hasDbXref NCI:C5029 semapv:UnspecifiedMatching -DOID:4064 bile duct sarcoma oboInOwl:hasDbXref UMLS_CUI:C2205442 semapv:UnspecifiedMatching +DOID:4064 bile duct sarcoma oboInOwl:hasDbXref UMLS:C2205442 semapv:UnspecifiedMatching DOID:4065 mixed type rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8902/3 semapv:UnspecifiedMatching -DOID:4065 mixed type rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334481 semapv:UnspecifiedMatching +DOID:4065 mixed type rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0334481 semapv:UnspecifiedMatching DOID:4066 anus rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5610 semapv:UnspecifiedMatching -DOID:4066 anus rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332276 semapv:UnspecifiedMatching +DOID:4066 anus rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332276 semapv:UnspecifiedMatching DOID:4067 anus sarcoma oboInOwl:hasDbXref NCI:C5611 semapv:UnspecifiedMatching -DOID:4067 anus sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332277 semapv:UnspecifiedMatching +DOID:4067 anus sarcoma oboInOwl:hasDbXref UMLS:C1332277 semapv:UnspecifiedMatching DOID:407 hepatic tuberculosis oboInOwl:hasDbXref MESH:D014386 semapv:UnspecifiedMatching -DOID:407 hepatic tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041313 semapv:UnspecifiedMatching +DOID:407 hepatic tuberculosis oboInOwl:hasDbXref UMLS:C0041313 semapv:UnspecifiedMatching DOID:4071 duodenogastric reflux oboInOwl:hasDbXref MESH:D004383 semapv:UnspecifiedMatching -DOID:4071 duodenogastric reflux oboInOwl:hasDbXref UMLS_CUI:C0013299 semapv:UnspecifiedMatching +DOID:4071 duodenogastric reflux oboInOwl:hasDbXref UMLS:C0013299 semapv:UnspecifiedMatching DOID:4072 duodenum disease oboInOwl:hasDbXref MESH:D004378 semapv:UnspecifiedMatching -DOID:4072 duodenum disease oboInOwl:hasDbXref UMLS_CUI:C0013289 semapv:UnspecifiedMatching +DOID:4072 duodenum disease oboInOwl:hasDbXref UMLS:C0013289 semapv:UnspecifiedMatching DOID:4073 pancreatic cystadenocarcinoma oboInOwl:hasDbXref NCI:C3874 semapv:UnspecifiedMatching -DOID:4073 pancreatic cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0238337 semapv:UnspecifiedMatching +DOID:4073 pancreatic cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0238337 semapv:UnspecifiedMatching DOID:4074 pancreatic adenocarcinoma oboInOwl:hasDbXref NCI:C8294 semapv:UnspecifiedMatching -DOID:4074 pancreatic adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0281361 semapv:UnspecifiedMatching +DOID:4074 pancreatic adenocarcinoma oboInOwl:hasDbXref UMLS:C0281361 semapv:UnspecifiedMatching DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref ICDO:8161/3 semapv:UnspecifiedMatching DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref NCI:C4130 semapv:UnspecifiedMatching -DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334286 semapv:UnspecifiedMatching +DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0334286 semapv:UnspecifiedMatching DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref MESH:D014264 semapv:UnspecifiedMatching DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref NCI:C50783 semapv:UnspecifiedMatching -DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0040963 semapv:UnspecifiedMatching +DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref UMLS:C0040963 semapv:UnspecifiedMatching DOID:4079 heart valve disease oboInOwl:hasDbXref MESH:D006349 semapv:UnspecifiedMatching DOID:4079 heart valve disease oboInOwl:hasDbXref MESH:D016127 semapv:UnspecifiedMatching DOID:4079 heart valve disease oboInOwl:hasDbXref NCI:C45525 semapv:UnspecifiedMatching -DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS_CUI:C0018824 semapv:UnspecifiedMatching -DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS_CUI:C0079485 semapv:UnspecifiedMatching +DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS:C0018824 semapv:UnspecifiedMatching +DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS:C0079485 semapv:UnspecifiedMatching DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref MESH:D014262 semapv:UnspecifiedMatching DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref NCI:C50842 semapv:UnspecifiedMatching -DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0040961 semapv:UnspecifiedMatching +DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref UMLS:C0040961 semapv:UnspecifiedMatching DOID:4084 testicular trophoblastic tumor oboInOwl:hasDbXref NCI:C39934 semapv:UnspecifiedMatching -DOID:4084 testicular trophoblastic tumor oboInOwl:hasDbXref UMLS_CUI:C1515301 semapv:UnspecifiedMatching +DOID:4084 testicular trophoblastic tumor oboInOwl:hasDbXref UMLS:C1515301 semapv:UnspecifiedMatching DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref MESH:D014328 semapv:UnspecifiedMatching DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref NCI:C3422 semapv:UnspecifiedMatching -DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041182 semapv:UnspecifiedMatching +DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C0041182 semapv:UnspecifiedMatching DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref ICDO:9065/3 semapv:UnspecifiedMatching DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref NCI:C9313 semapv:UnspecifiedMatching -DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref UMLS_CUI:C2057625 semapv:UnspecifiedMatching +DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref UMLS:C2057625 semapv:UnspecifiedMatching DOID:4087 testicular pure germ cell tumor oboInOwl:hasDbXref NCI:C39915 semapv:UnspecifiedMatching -DOID:4087 testicular pure germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1514608 semapv:UnspecifiedMatching +DOID:4087 testicular pure germ cell tumor oboInOwl:hasDbXref UMLS:C1514608 semapv:UnspecifiedMatching DOID:409 liver disease oboInOwl:hasDbXref ICD10CM:K76.9 semapv:UnspecifiedMatching DOID:409 liver disease oboInOwl:hasDbXref ICD9CM:573.9 semapv:UnspecifiedMatching DOID:409 liver disease oboInOwl:hasDbXref MESH:D008107 semapv:UnspecifiedMatching DOID:409 liver disease oboInOwl:hasDbXref NCI:C3196 semapv:UnspecifiedMatching -DOID:409 liver disease oboInOwl:hasDbXref UMLS_CUI:C0023895 semapv:UnspecifiedMatching +DOID:409 liver disease oboInOwl:hasDbXref UMLS:C0023895 semapv:UnspecifiedMatching DOID:4090 agnosia oboInOwl:hasDbXref GARD:8 semapv:UnspecifiedMatching DOID:4090 agnosia oboInOwl:hasDbXref ICD10CM:R48.1 semapv:UnspecifiedMatching DOID:4090 agnosia oboInOwl:hasDbXref MESH:D000377 semapv:UnspecifiedMatching DOID:4090 agnosia oboInOwl:hasDbXref NCI:C84542 semapv:UnspecifiedMatching -DOID:4090 agnosia oboInOwl:hasDbXref UMLS_CUI:C0001816 semapv:UnspecifiedMatching +DOID:4090 agnosia oboInOwl:hasDbXref UMLS:C0001816 semapv:UnspecifiedMatching DOID:4090 agnosia skos:exactMatch MESH:D000377 semapv:UnspecifiedMatching DOID:4109 tick infestation oboInOwl:hasDbXref MESH:D013984 semapv:UnspecifiedMatching -DOID:4109 tick infestation oboInOwl:hasDbXref UMLS_CUI:C0040196 semapv:UnspecifiedMatching +DOID:4109 tick infestation oboInOwl:hasDbXref UMLS:C0040196 semapv:UnspecifiedMatching DOID:4110 parasitic ectoparasitic infectious disease oboInOwl:hasDbXref MESH:D004478 semapv:UnspecifiedMatching -DOID:4110 parasitic ectoparasitic infectious disease oboInOwl:hasDbXref UMLS_CUI:C0013578 semapv:UnspecifiedMatching +DOID:4110 parasitic ectoparasitic infectious disease oboInOwl:hasDbXref UMLS:C0013578 semapv:UnspecifiedMatching DOID:4111 cervical adenosarcoma oboInOwl:hasDbXref NCI:C40229 semapv:UnspecifiedMatching -DOID:4111 cervical adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1516426 semapv:UnspecifiedMatching +DOID:4111 cervical adenosarcoma oboInOwl:hasDbXref UMLS:C1516426 semapv:UnspecifiedMatching DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C36097 semapv:UnspecifiedMatching DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C40226 semapv:UnspecifiedMatching DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C40228 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332917 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1516420 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1518168 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS:C1332917 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS:C1516420 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS:C1518168 semapv:UnspecifiedMatching DOID:4113 uterine corpus adenosarcoma oboInOwl:hasDbXref NCI:C6336 semapv:UnspecifiedMatching -DOID:4113 uterine corpus adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336917 semapv:UnspecifiedMatching +DOID:4113 uterine corpus adenosarcoma oboInOwl:hasDbXref UMLS:C1336917 semapv:UnspecifiedMatching DOID:4114 uterine body mixed cancer oboInOwl:hasDbXref NCI:C6311 semapv:UnspecifiedMatching -DOID:4114 uterine body mixed cancer oboInOwl:hasDbXref UMLS_CUI:C1334628 semapv:UnspecifiedMatching +DOID:4114 uterine body mixed cancer oboInOwl:hasDbXref UMLS:C1334628 semapv:UnspecifiedMatching DOID:4115 ovarian mesodermal adenosarcoma oboInOwl:hasDbXref NCI:C7317 semapv:UnspecifiedMatching -DOID:4115 ovarian mesodermal adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335169 semapv:UnspecifiedMatching +DOID:4115 ovarian mesodermal adenosarcoma oboInOwl:hasDbXref UMLS:C1335169 semapv:UnspecifiedMatching DOID:4117 vaginal adenosarcoma oboInOwl:hasDbXref NCI:C40277 semapv:UnspecifiedMatching -DOID:4117 vaginal adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519914 semapv:UnspecifiedMatching +DOID:4117 vaginal adenosarcoma oboInOwl:hasDbXref UMLS:C1519914 semapv:UnspecifiedMatching DOID:4118 colon neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5697 semapv:UnspecifiedMatching -DOID:4118 colon neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333097 semapv:UnspecifiedMatching +DOID:4118 colon neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1333097 semapv:UnspecifiedMatching DOID:4119 intestinal neuroendocrine benign tumor oboInOwl:hasDbXref NCI:C5695 semapv:UnspecifiedMatching -DOID:4119 intestinal neuroendocrine benign tumor oboInOwl:hasDbXref UMLS_CUI:C1334231 semapv:UnspecifiedMatching +DOID:4119 intestinal neuroendocrine benign tumor oboInOwl:hasDbXref UMLS:C1334231 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref ICD10CM:L60 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref ICD9CM:703 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref MESH:D009260 semapv:UnspecifiedMatching -DOID:4123 nail disease oboInOwl:hasDbXref UMLS_CUI:C0027339 semapv:UnspecifiedMatching +DOID:4123 nail disease oboInOwl:hasDbXref UMLS:C0027339 semapv:UnspecifiedMatching DOID:4131 erythrasma oboInOwl:hasDbXref ICD10CM:L08.1 semapv:UnspecifiedMatching DOID:4131 erythrasma oboInOwl:hasDbXref MESH:D004894 semapv:UnspecifiedMatching -DOID:4131 erythrasma oboInOwl:hasDbXref UMLS_CUI:C0014752 semapv:UnspecifiedMatching +DOID:4131 erythrasma oboInOwl:hasDbXref UMLS:C0014752 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref ICDO:8840/3 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref MESH:D009236 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref NCI:C3255 semapv:UnspecifiedMatching -DOID:4136 myxosarcoma oboInOwl:hasDbXref UMLS_CUI:C0027155 semapv:UnspecifiedMatching +DOID:4136 myxosarcoma oboInOwl:hasDbXref UMLS:C0027155 semapv:UnspecifiedMatching DOID:4137 common bile duct disease oboInOwl:hasDbXref MESH:D003137 semapv:UnspecifiedMatching -DOID:4137 common bile duct disease oboInOwl:hasDbXref UMLS_CUI:C0009440 semapv:UnspecifiedMatching +DOID:4137 common bile duct disease oboInOwl:hasDbXref UMLS:C0009440 semapv:UnspecifiedMatching DOID:4138 bile duct disease oboInOwl:hasDbXref MESH:D001649 semapv:UnspecifiedMatching DOID:4138 bile duct disease oboInOwl:hasDbXref NCI:C96716 semapv:UnspecifiedMatching -DOID:4138 bile duct disease oboInOwl:hasDbXref UMLS_CUI:C0005395 semapv:UnspecifiedMatching +DOID:4138 bile duct disease oboInOwl:hasDbXref UMLS:C0005395 semapv:UnspecifiedMatching DOID:4140 biliary dyskinesia oboInOwl:hasDbXref MESH:D001657 semapv:UnspecifiedMatching -DOID:4140 biliary dyskinesia oboInOwl:hasDbXref UMLS_CUI:C0005416 semapv:UnspecifiedMatching +DOID:4140 biliary dyskinesia oboInOwl:hasDbXref UMLS:C0005416 semapv:UnspecifiedMatching DOID:4141 intraorbital meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4141 intraorbital meningioma oboInOwl:hasDbXref NCI:C6778 semapv:UnspecifiedMatching -DOID:4141 intraorbital meningioma oboInOwl:hasDbXref UMLS_CUI:C1334261 semapv:UnspecifiedMatching +DOID:4141 intraorbital meningioma oboInOwl:hasDbXref UMLS:C1334261 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref ICD10CM:C69.6 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref ICD9CM:190.1 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref MESH:D009918 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref NCI:C3290 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref NCI:C3562 semapv:UnspecifiedMatching -DOID:4143 orbital cancer oboInOwl:hasDbXref UMLS_CUI:C0029185 semapv:UnspecifiedMatching -DOID:4143 orbital cancer oboInOwl:hasDbXref UMLS_CUI:C0153626 semapv:UnspecifiedMatching +DOID:4143 orbital cancer oboInOwl:hasDbXref UMLS:C0029185 semapv:UnspecifiedMatching +DOID:4143 orbital cancer oboInOwl:hasDbXref UMLS:C0153626 semapv:UnspecifiedMatching DOID:4147 gastrointestinal adenoma oboInOwl:hasDbXref NCI:C36207 semapv:UnspecifiedMatching -DOID:4147 gastrointestinal adenoma oboInOwl:hasDbXref UMLS_CUI:C0948101 semapv:UnspecifiedMatching +DOID:4147 gastrointestinal adenoma oboInOwl:hasDbXref UMLS:C0948101 semapv:UnspecifiedMatching DOID:4148 gastrointestinal neuroendocrine benign tumor oboInOwl:hasDbXref NCI:C27721 semapv:UnspecifiedMatching -DOID:4148 gastrointestinal neuroendocrine benign tumor oboInOwl:hasDbXref UMLS_CUI:C1333799 semapv:UnspecifiedMatching +DOID:4148 gastrointestinal neuroendocrine benign tumor oboInOwl:hasDbXref UMLS:C1333799 semapv:UnspecifiedMatching DOID:4151 skull base chordoma oboInOwl:hasDbXref NCI:C5453 semapv:UnspecifiedMatching -DOID:4151 skull base chordoma oboInOwl:hasDbXref UMLS_CUI:C1335975 semapv:UnspecifiedMatching +DOID:4151 skull base chordoma oboInOwl:hasDbXref UMLS:C1335975 semapv:UnspecifiedMatching DOID:4152 chondroid chordoma oboInOwl:hasDbXref ICDO:9371/3 semapv:UnspecifiedMatching DOID:4152 chondroid chordoma oboInOwl:hasDbXref NCI:C6902 semapv:UnspecifiedMatching -DOID:4152 chondroid chordoma oboInOwl:hasDbXref UMLS_CUI:C1266173 semapv:UnspecifiedMatching +DOID:4152 chondroid chordoma oboInOwl:hasDbXref UMLS:C1266173 semapv:UnspecifiedMatching DOID:4153 spinal chordoma oboInOwl:hasDbXref NCI:C5156 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref GARD:6258 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching @@ -29423,37 +29736,37 @@ DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref NCI:C84667 semapv:Unspeci DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125490 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125500 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref ORDO:49042 semapv:UnspecifiedMatching -DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref UMLS_CUI:C0011436 semapv:UnspecifiedMatching +DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C0011436 semapv:UnspecifiedMatching DOID:4156 primary syphilis oboInOwl:hasDbXref ICD9CM:091 semapv:UnspecifiedMatching -DOID:4156 primary syphilis oboInOwl:hasDbXref UMLS_CUI:C0153139 semapv:UnspecifiedMatching +DOID:4156 primary syphilis oboInOwl:hasDbXref UMLS:C0153139 semapv:UnspecifiedMatching DOID:4157 secondary syphilis oboInOwl:hasDbXref ICD9CM:091.9 semapv:UnspecifiedMatching DOID:4157 secondary syphilis oboInOwl:hasDbXref MESH:C536773 semapv:UnspecifiedMatching DOID:4157 secondary syphilis oboInOwl:hasDbXref NCI:C128413 semapv:UnspecifiedMatching -DOID:4157 secondary syphilis oboInOwl:hasDbXref UMLS_CUI:C0149985 semapv:UnspecifiedMatching +DOID:4157 secondary syphilis oboInOwl:hasDbXref UMLS:C0149985 semapv:UnspecifiedMatching DOID:4159 skin cancer oboInOwl:hasDbXref GARD:10421 semapv:UnspecifiedMatching DOID:4159 skin cancer oboInOwl:hasDbXref MESH:D012878 semapv:UnspecifiedMatching DOID:4159 skin cancer oboInOwl:hasDbXref NCI:C2920 semapv:UnspecifiedMatching -DOID:4159 skin cancer oboInOwl:hasDbXref UMLS_CUI:C0007114 semapv:UnspecifiedMatching +DOID:4159 skin cancer oboInOwl:hasDbXref UMLS:C0007114 semapv:UnspecifiedMatching DOID:4160 differentiating neuroblastoma oboInOwl:hasDbXref NCI:C42048 semapv:UnspecifiedMatching -DOID:4160 differentiating neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1511934 semapv:UnspecifiedMatching +DOID:4160 differentiating neuroblastoma oboInOwl:hasDbXref UMLS:C1511934 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref ICDO:9490/3 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref MESH:D018305 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref NCI:C3790 semapv:UnspecifiedMatching -DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0206718 semapv:UnspecifiedMatching +DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C0206718 semapv:UnspecifiedMatching DOID:4164 cerebral neuroblastoma oboInOwl:hasDbXref NCI:C4826 semapv:UnspecifiedMatching -DOID:4164 cerebral neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0559458 semapv:UnspecifiedMatching +DOID:4164 cerebral neuroblastoma oboInOwl:hasDbXref UMLS:C0559458 semapv:UnspecifiedMatching DOID:4166 syphilis oboInOwl:hasDbXref ICD10CM:A51.0 semapv:UnspecifiedMatching DOID:4166 syphilis oboInOwl:hasDbXref MESH:D002601 semapv:UnspecifiedMatching -DOID:4166 syphilis oboInOwl:hasDbXref UMLS_CUI:C0007939 semapv:UnspecifiedMatching +DOID:4166 syphilis oboInOwl:hasDbXref UMLS:C0007939 semapv:UnspecifiedMatching DOID:417 autoimmune disease oboInOwl:hasDbXref ICD9CM:720 semapv:UnspecifiedMatching DOID:417 autoimmune disease oboInOwl:hasDbXref OMIM:109100 semapv:UnspecifiedMatching -DOID:417 autoimmune disease oboInOwl:hasDbXref UMLS_CUI:C0003089 semapv:UnspecifiedMatching +DOID:417 autoimmune disease oboInOwl:hasDbXref UMLS:C0003089 semapv:UnspecifiedMatching DOID:417 autoimmune disease skos:exactMatch OMIM:109100 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref MESH:D012203 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref NCI:C113150 semapv:UnspecifiedMatching -DOID:4175 Rh isoimmunization oboInOwl:hasDbXref UMLS_CUI:C0035404 semapv:UnspecifiedMatching +DOID:4175 Rh isoimmunization oboInOwl:hasDbXref UMLS:C0035404 semapv:UnspecifiedMatching DOID:4176 blood group incompatibility oboInOwl:hasDbXref MESH:D001787 semapv:UnspecifiedMatching -DOID:4176 blood group incompatibility oboInOwl:hasDbXref UMLS_CUI:C0005806 semapv:UnspecifiedMatching +DOID:4176 blood group incompatibility oboInOwl:hasDbXref UMLS:C0005806 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref EFO:0000717 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref GARD:9748 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD10CM:M34.0 semapv:UnspecifiedMatching @@ -29461,57 +29774,57 @@ DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD9CM:710.1 semapv:Unspecified DOID:418 systemic scleroderma oboInOwl:hasDbXref MESH:D012595 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref NCI:C72070 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref UMLS_CUI:C0036421 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref UMLS:C0036421 semapv:UnspecifiedMatching DOID:418 systemic scleroderma skos:exactMatch OMIM:181750 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref GARD:7860 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref NCI:C129722 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching -DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0033835 semapv:UnspecifiedMatching +DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism skos:exactMatch OMIM:612463 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref GARD:10758 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20.1 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011547 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref NCI:C99027 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0033806 semapv:UnspecifiedMatching +DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033806 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism skos:exactMatch MESH:D011547 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism skos:exactMatch OMIM:612462 semapv:UnspecifiedMatching DOID:4186 articulation disorder oboInOwl:hasDbXref MESH:D001184 semapv:UnspecifiedMatching -DOID:4186 articulation disorder oboInOwl:hasDbXref UMLS_CUI:C0003910 semapv:UnspecifiedMatching +DOID:4186 articulation disorder oboInOwl:hasDbXref UMLS:C0003910 semapv:UnspecifiedMatching DOID:4188 echolalia oboInOwl:hasDbXref MESH:D004454 semapv:UnspecifiedMatching DOID:4188 echolalia oboInOwl:hasDbXref NCI:C97166 semapv:UnspecifiedMatching -DOID:4188 echolalia oboInOwl:hasDbXref UMLS_CUI:C0013528 semapv:UnspecifiedMatching +DOID:4188 echolalia oboInOwl:hasDbXref UMLS:C0013528 semapv:UnspecifiedMatching DOID:4189 mutism oboInOwl:hasDbXref MESH:D009155 semapv:UnspecifiedMatching -DOID:4189 mutism oboInOwl:hasDbXref UMLS_CUI:C0026884 semapv:UnspecifiedMatching +DOID:4189 mutism oboInOwl:hasDbXref UMLS:C0026884 semapv:UnspecifiedMatching DOID:419 scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching DOID:419 scleroderma oboInOwl:hasDbXref NCI:C26746 semapv:UnspecifiedMatching -DOID:419 scleroderma oboInOwl:hasDbXref UMLS_CUI:C0011644 semapv:UnspecifiedMatching +DOID:419 scleroderma oboInOwl:hasDbXref UMLS:C0011644 semapv:UnspecifiedMatching DOID:4193 intracranial thrombosis oboInOwl:hasDbXref ICD9CM:434.0 semapv:UnspecifiedMatching DOID:4193 intracranial thrombosis oboInOwl:hasDbXref MESH:D020767 semapv:UnspecifiedMatching -DOID:4193 intracranial thrombosis oboInOwl:hasDbXref UMLS_CUI:C0079102 semapv:UnspecifiedMatching -DOID:4193 intracranial thrombosis oboInOwl:hasDbXref UMLS_CUI:C0752143 semapv:UnspecifiedMatching +DOID:4193 intracranial thrombosis oboInOwl:hasDbXref UMLS:C0079102 semapv:UnspecifiedMatching +DOID:4193 intracranial thrombosis oboInOwl:hasDbXref UMLS:C0752143 semapv:UnspecifiedMatching DOID:4194 glucose metabolism disease oboInOwl:hasDbXref MESH:D044882 semapv:UnspecifiedMatching DOID:4194 glucose metabolism disease oboInOwl:hasDbXref NCI:C53655 semapv:UnspecifiedMatching -DOID:4194 glucose metabolism disease oboInOwl:hasDbXref UMLS_CUI:C1257958 semapv:UnspecifiedMatching +DOID:4194 glucose metabolism disease oboInOwl:hasDbXref UMLS:C1257958 semapv:UnspecifiedMatching DOID:4195 hyperglycemia oboInOwl:hasDbXref ICD10CM:R73.9 semapv:UnspecifiedMatching DOID:4195 hyperglycemia oboInOwl:hasDbXref MESH:D006943 semapv:UnspecifiedMatching DOID:4195 hyperglycemia oboInOwl:hasDbXref NCI:C26797 semapv:UnspecifiedMatching -DOID:4195 hyperglycemia oboInOwl:hasDbXref UMLS_CUI:C0020456 semapv:UnspecifiedMatching +DOID:4195 hyperglycemia oboInOwl:hasDbXref UMLS:C0020456 semapv:UnspecifiedMatching DOID:4196 femoral neuropathy oboInOwl:hasDbXref ICD10CM:G57.2 semapv:UnspecifiedMatching DOID:4196 femoral neuropathy oboInOwl:hasDbXref MESH:D020428 semapv:UnspecifiedMatching DOID:4196 femoral neuropathy oboInOwl:hasDbXref NCI:C27595 semapv:UnspecifiedMatching -DOID:4196 femoral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751931 semapv:UnspecifiedMatching +DOID:4196 femoral neuropathy oboInOwl:hasDbXref UMLS:C0751931 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref ICD10CM:L68 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref MESH:D006983 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref NCI:C79597 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref ORDO:79365 semapv:UnspecifiedMatching -DOID:420 hypertrichosis oboInOwl:hasDbXref UMLS_CUI:C0020555 semapv:UnspecifiedMatching +DOID:420 hypertrichosis oboInOwl:hasDbXref UMLS:C0020555 semapv:UnspecifiedMatching DOID:4201 peroneal neuropathy oboInOwl:hasDbXref MESH:D020427 semapv:UnspecifiedMatching DOID:4201 peroneal neuropathy oboInOwl:hasDbXref NCI:C27596 semapv:UnspecifiedMatching -DOID:4201 peroneal neuropathy oboInOwl:hasDbXref UMLS_CUI:C0747533 semapv:UnspecifiedMatching +DOID:4201 peroneal neuropathy oboInOwl:hasDbXref UMLS:C0747533 semapv:UnspecifiedMatching DOID:4202 brain stem glioma oboInOwl:hasDbXref NCI:C8501 semapv:UnspecifiedMatching -DOID:4202 brain stem glioma oboInOwl:hasDbXref UMLS_CUI:C0677865 semapv:UnspecifiedMatching +DOID:4202 brain stem glioma oboInOwl:hasDbXref UMLS:C0677865 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref GARD:8244 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref ICD10CM:C71.7 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref ICD9CM:191.7 semapv:UnspecifiedMatching @@ -29520,74 +29833,74 @@ DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C3570 semapv:UnspecifiedMatch DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C4869 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C4975 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C5967 semapv:UnspecifiedMatching -DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS_CUI:C0153641 semapv:UnspecifiedMatching -DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS_CUI:C0677866 semapv:UnspecifiedMatching -DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS_CUI:C0751886 semapv:UnspecifiedMatching -DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS_CUI:C1332192 semapv:UnspecifiedMatching +DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS:C0153641 semapv:UnspecifiedMatching +DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS:C0677866 semapv:UnspecifiedMatching +DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS:C0751886 semapv:UnspecifiedMatching +DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS:C1332192 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref ICD10CM:C71.6 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref ICD9CM:191.6 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref MESH:D002528 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref NCI:C2935 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref NCI:C3569 semapv:UnspecifiedMatching -DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS_CUI:C0007762 semapv:UnspecifiedMatching -DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS_CUI:C0153640 semapv:UnspecifiedMatching +DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS:C0007762 semapv:UnspecifiedMatching +DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS:C0153640 semapv:UnspecifiedMatching DOID:4206 childhood brain stem neoplasm oboInOwl:hasDbXref NCI:C5969 semapv:UnspecifiedMatching -DOID:4206 childhood brain stem neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332951 semapv:UnspecifiedMatching +DOID:4206 childhood brain stem neoplasm oboInOwl:hasDbXref UMLS:C1332951 semapv:UnspecifiedMatching DOID:4207 childhood infratentorial neoplasm oboInOwl:hasDbXref NCI:C5802 semapv:UnspecifiedMatching -DOID:4207 childhood infratentorial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332973 semapv:UnspecifiedMatching +DOID:4207 childhood infratentorial neoplasm oboInOwl:hasDbXref UMLS:C1332973 semapv:UnspecifiedMatching DOID:4209 brainstem intraparenchymal clear cell meningioma oboInOwl:hasDbXref NCI:C5295 semapv:UnspecifiedMatching -DOID:4209 brainstem intraparenchymal clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C1332612 semapv:UnspecifiedMatching +DOID:4209 brainstem intraparenchymal clear cell meningioma oboInOwl:hasDbXref UMLS:C1332612 semapv:UnspecifiedMatching DOID:421 hair disease oboInOwl:hasDbXref MESH:D006201 semapv:UnspecifiedMatching DOID:421 hair disease oboInOwl:hasDbXref NCI:C34656 semapv:UnspecifiedMatching -DOID:421 hair disease oboInOwl:hasDbXref UMLS_CUI:C0018500 semapv:UnspecifiedMatching +DOID:421 hair disease oboInOwl:hasDbXref UMLS:C0018500 semapv:UnspecifiedMatching DOID:4210 clear cell meningioma oboInOwl:hasDbXref ICDO:9538/1 semapv:UnspecifiedMatching DOID:4210 clear cell meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4210 clear cell meningioma oboInOwl:hasDbXref NCI:C4722 semapv:UnspecifiedMatching -DOID:4210 clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C0431121 semapv:UnspecifiedMatching +DOID:4210 clear cell meningioma oboInOwl:hasDbXref UMLS:C0431121 semapv:UnspecifiedMatching DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref NCI:C6775 semapv:UnspecifiedMatching -DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1565950 semapv:UnspecifiedMatching +DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref UMLS:C1565950 semapv:UnspecifiedMatching DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref MESH:D001948 semapv:UnspecifiedMatching DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref NCI:C4270 semapv:UnspecifiedMatching -DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref UMLS_CUI:C0334495 semapv:UnspecifiedMatching +DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref UMLS:C0334495 semapv:UnspecifiedMatching DOID:422 congenital structural myopathy oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching DOID:422 congenital structural myopathy oboInOwl:hasDbXref NCI:C84648 semapv:UnspecifiedMatching -DOID:422 congenital structural myopathy oboInOwl:hasDbXref UMLS_CUI:C0752282 semapv:UnspecifiedMatching +DOID:422 congenital structural myopathy oboInOwl:hasDbXref UMLS:C0752282 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref ICD10CM:L08.0 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref ICD9CM:686.0 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref MESH:D011711 semapv:UnspecifiedMatching -DOID:4223 pyoderma oboInOwl:hasDbXref UMLS_CUI:C0034212 semapv:UnspecifiedMatching +DOID:4223 pyoderma oboInOwl:hasDbXref UMLS:C0034212 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref GARD:6339 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref ICDO:8930/3 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C8973 semapv:UnspecifiedMatching -DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206630 semapv:UnspecifiedMatching +DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C0206630 semapv:UnspecifiedMatching DOID:4227 uterine corpus endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40219 semapv:UnspecifiedMatching -DOID:4227 uterine corpus endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C1519849 semapv:UnspecifiedMatching +DOID:4227 uterine corpus endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C1519849 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref ICD10CM:G72.9 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref ICD9CM:359.9 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref MESH:D009135 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref NCI:C101216 semapv:UnspecifiedMatching -DOID:423 myopathy oboInOwl:hasDbXref UMLS_CUI:C0026848 semapv:UnspecifiedMatching +DOID:423 myopathy oboInOwl:hasDbXref UMLS:C0026848 semapv:UnspecifiedMatching DOID:4230 smooth muscle cancer oboInOwl:hasDbXref NCI:C6511 semapv:UnspecifiedMatching -DOID:4230 smooth muscle cancer oboInOwl:hasDbXref UMLS_CUI:C1334620 semapv:UnspecifiedMatching +DOID:4230 smooth muscle cancer oboInOwl:hasDbXref UMLS:C1334620 semapv:UnspecifiedMatching DOID:4231 histiocytoma oboInOwl:hasDbXref ICDO:8831/0 semapv:UnspecifiedMatching DOID:4231 histiocytoma oboInOwl:hasDbXref MESH:D051642 semapv:UnspecifiedMatching DOID:4231 histiocytoma oboInOwl:hasDbXref NCI:C35765 semapv:UnspecifiedMatching -DOID:4231 histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1509147 semapv:UnspecifiedMatching +DOID:4231 histiocytoma oboInOwl:hasDbXref UMLS:C1509147 semapv:UnspecifiedMatching DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref NCI:C27293 semapv:UnspecifiedMatching DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref ORDO:370334 semapv:UnspecifiedMatching -DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333514 semapv:UnspecifiedMatching +DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref UMLS:C1333514 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref ICDO:9044/3 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref MESH:D018227 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref NCI:C27370 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref NCI:C3745 semapv:UnspecifiedMatching -DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206651 semapv:UnspecifiedMatching -DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332198 semapv:UnspecifiedMatching +DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS:C0206651 semapv:UnspecifiedMatching +DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS:C1332198 semapv:UnspecifiedMatching DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref ICDO:8801/3 semapv:UnspecifiedMatching DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref MESH:D012509 semapv:UnspecifiedMatching DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref NCI:C27005 semapv:UnspecifiedMatching -DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0205945 semapv:UnspecifiedMatching +DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref UMLS:C0205945 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref ICDO:8980/3 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref MESH:D002296 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref MESH:D018199 semapv:UnspecifiedMatching @@ -29595,9 +29908,9 @@ DOID:4236 carcinosarcoma oboInOwl:hasDbXref MESH:D018200 semapv:UnspecifiedMatch DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C34448 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C3730 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C8975 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0007140 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206627 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334603 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS:C0007140 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS:C0206627 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS:C1334603 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref GARD:5654 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref ICDO:9581/3 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref MESH:D018234 semapv:UnspecifiedMatching @@ -29606,115 +29919,115 @@ DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C7943 semapv:Unspeci DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C8092 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref OMIM:606243 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref ORDO:163699 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206657 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279544 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279985 semapv:UnspecifiedMatching +DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C0206657 semapv:UnspecifiedMatching +DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C0279544 semapv:UnspecifiedMatching +DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C0279985 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma skos:exactMatch OMIM:606243 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref ICD10CM:P28.0 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref ICD9CM:770.4 semapv:UnspecifiedMatching -DOID:424 pulmonary immaturity oboInOwl:hasDbXref UMLS_CUI:C0270163 semapv:UnspecifiedMatching +DOID:424 pulmonary immaturity oboInOwl:hasDbXref UMLS:C0270163 semapv:UnspecifiedMatching DOID:4242 kidney sarcoma oboInOwl:hasDbXref NCI:C4525 semapv:UnspecifiedMatching -DOID:4242 kidney sarcoma oboInOwl:hasDbXref UMLS_CUI:C0346251 semapv:UnspecifiedMatching +DOID:4242 kidney sarcoma oboInOwl:hasDbXref UMLS:C0346251 semapv:UnspecifiedMatching DOID:4247 coronary restenosis oboInOwl:hasDbXref MESH:D023903 semapv:UnspecifiedMatching -DOID:4247 coronary restenosis oboInOwl:hasDbXref UMLS_CUI:C0948480 semapv:UnspecifiedMatching +DOID:4247 coronary restenosis oboInOwl:hasDbXref UMLS:C0948480 semapv:UnspecifiedMatching DOID:4248 coronary stenosis oboInOwl:hasDbXref MESH:D023921 semapv:UnspecifiedMatching DOID:4248 coronary stenosis oboInOwl:hasDbXref NCI:C80427 semapv:UnspecifiedMatching -DOID:4248 coronary stenosis oboInOwl:hasDbXref UMLS_CUI:C0242231 semapv:UnspecifiedMatching +DOID:4248 coronary stenosis oboInOwl:hasDbXref UMLS:C0242231 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref GARD:7690 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10CM:A81.82 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD9CM:046.71 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref NCI:C84727 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 semapv:UnspecifiedMatching -DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS_CUI:C0017495 semapv:UnspecifiedMatching +DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS:C0017495 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch OMIM:137440 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref ICD10CM:H11.82 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref ICD9CM:372.81 semapv:UnspecifiedMatching -DOID:4250 conjunctivochalasis oboInOwl:hasDbXref UMLS_CUI:C0878693 semapv:UnspecifiedMatching +DOID:4250 conjunctivochalasis oboInOwl:hasDbXref UMLS:C0878693 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref ICD10CM:H11.9 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref ICD9CM:372.9 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref MESH:D003229 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref NCI:C27605 semapv:UnspecifiedMatching -DOID:4251 conjunctival disease oboInOwl:hasDbXref UMLS_CUI:C0009759 semapv:UnspecifiedMatching +DOID:4251 conjunctival disease oboInOwl:hasDbXref UMLS:C0009759 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref GARD:5774 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref NCI:C84545 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching -DOID:4252 Alexander disease oboInOwl:hasDbXref UMLS_CUI:C0270726 semapv:UnspecifiedMatching +DOID:4252 Alexander disease oboInOwl:hasDbXref UMLS:C0270726 semapv:UnspecifiedMatching DOID:4252 Alexander disease skos:exactMatch MESH:D038261 semapv:UnspecifiedMatching DOID:4252 Alexander disease skos:exactMatch OMIM:203450 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref GARD:9474 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref MESH:D008557 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref NCI:C84887 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMatching -DOID:4253 melorheostosis oboInOwl:hasDbXref UMLS_CUI:C0025239 semapv:UnspecifiedMatching +DOID:4253 melorheostosis oboInOwl:hasDbXref UMLS:C0025239 semapv:UnspecifiedMatching DOID:4253 melorheostosis skos:exactMatch MESH:D008557 semapv:UnspecifiedMatching DOID:4253 melorheostosis skos:exactMatch OMIM:155950 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref MESH:D010026 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref NCI:C41236 semapv:UnspecifiedMatching -DOID:4254 osteosclerosis oboInOwl:hasDbXref UMLS_CUI:C0029464 semapv:UnspecifiedMatching +DOID:4254 osteosclerosis oboInOwl:hasDbXref UMLS:C0029464 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref GARD:1051 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref ICD10CM:M89.8 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref MESH:D006958 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref NCI:C84645 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref OMIM:114000 semapv:UnspecifiedMatching -DOID:4257 Caffey disease oboInOwl:hasDbXref UMLS_CUI:C0020497 semapv:UnspecifiedMatching +DOID:4257 Caffey disease oboInOwl:hasDbXref UMLS:C0020497 semapv:UnspecifiedMatching DOID:4257 Caffey disease skos:exactMatch OMIM:114000 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref MESH:D010855 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref NCI:C85010 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:261800 semapv:UnspecifiedMatching -DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS_CUI:C0031900 semapv:UnspecifiedMatching +DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS:C0031900 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome skos:exactMatch OMIM:261800 semapv:UnspecifiedMatching DOID:4260 gait apraxia oboInOwl:hasDbXref MESH:D020235 semapv:UnspecifiedMatching -DOID:4260 gait apraxia oboInOwl:hasDbXref UMLS_CUI:C1510417 semapv:UnspecifiedMatching +DOID:4260 gait apraxia oboInOwl:hasDbXref UMLS:C1510417 semapv:UnspecifiedMatching DOID:4260 gait apraxia skos:exactMatch MESH:D020235 semapv:UnspecifiedMatching DOID:4265 angiomyoma oboInOwl:hasDbXref MESH:D018229 semapv:UnspecifiedMatching DOID:4265 angiomyoma oboInOwl:hasDbXref NCI:C3747 semapv:UnspecifiedMatching -DOID:4265 angiomyoma oboInOwl:hasDbXref UMLS_CUI:C0206653 semapv:UnspecifiedMatching +DOID:4265 angiomyoma oboInOwl:hasDbXref UMLS:C0206653 semapv:UnspecifiedMatching DOID:4265 angiomyoma skos:exactMatch MESH:D018229 semapv:UnspecifiedMatching DOID:4266 intravascular angioleiomyoma oboInOwl:hasDbXref NCI:C5355 semapv:UnspecifiedMatching -DOID:4266 intravascular angioleiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334267 semapv:UnspecifiedMatching +DOID:4266 intravascular angioleiomyoma oboInOwl:hasDbXref UMLS:C1334267 semapv:UnspecifiedMatching DOID:4267 akinetic mutism oboInOwl:hasDbXref MESH:D000405 semapv:UnspecifiedMatching -DOID:4267 akinetic mutism oboInOwl:hasDbXref UMLS_CUI:C0001889 semapv:UnspecifiedMatching +DOID:4267 akinetic mutism oboInOwl:hasDbXref UMLS:C0001889 semapv:UnspecifiedMatching DOID:4267 akinetic mutism skos:exactMatch MESH:D000405 semapv:UnspecifiedMatching DOID:4270 encephalitozoonosis oboInOwl:hasDbXref MESH:D016890 semapv:UnspecifiedMatching -DOID:4270 encephalitozoonosis oboInOwl:hasDbXref UMLS_CUI:C0085412 semapv:UnspecifiedMatching +DOID:4270 encephalitozoonosis oboInOwl:hasDbXref UMLS:C0085412 semapv:UnspecifiedMatching DOID:4271 microsporidiosis oboInOwl:hasDbXref GARD:3655 semapv:UnspecifiedMatching DOID:4271 microsporidiosis oboInOwl:hasDbXref ICD10CM:B60.8 semapv:UnspecifiedMatching DOID:4271 microsporidiosis oboInOwl:hasDbXref MESH:D016881 semapv:UnspecifiedMatching DOID:4271 microsporidiosis oboInOwl:hasDbXref NCI:C84891 semapv:UnspecifiedMatching -DOID:4271 microsporidiosis oboInOwl:hasDbXref UMLS_CUI:C0085407 semapv:UnspecifiedMatching +DOID:4271 microsporidiosis oboInOwl:hasDbXref UMLS:C0085407 semapv:UnspecifiedMatching DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref NCI:C39961 semapv:UnspecifiedMatching -DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518949 semapv:UnspecifiedMatching +DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref UMLS:C1518949 semapv:UnspecifiedMatching DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref NCI:C6386 semapv:UnspecifiedMatching -DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335934 semapv:UnspecifiedMatching +DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref UMLS:C1335934 semapv:UnspecifiedMatching DOID:4279 infundibulocystic basal cell carcinoma oboInOwl:hasDbXref OMIM:604451 semapv:UnspecifiedMatching DOID:4279 infundibulocystic basal cell carcinoma skos:exactMatch OMIM:604451 semapv:UnspecifiedMatching DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref NCI:C62282 semapv:UnspecifiedMatching -DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1304300 semapv:UnspecifiedMatching +DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref UMLS:C1304300 semapv:UnspecifiedMatching DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref ICD10CM:C44.510 semapv:UnspecifiedMatching DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref NCI:C7473 semapv:UnspecifiedMatching -DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332269 semapv:UnspecifiedMatching +DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref UMLS:C1332269 semapv:UnspecifiedMatching DOID:4284 anal margin carcinoma oboInOwl:hasDbXref NCI:C7472 semapv:UnspecifiedMatching -DOID:4284 anal margin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349534 semapv:UnspecifiedMatching +DOID:4284 anal margin carcinoma oboInOwl:hasDbXref UMLS:C0349534 semapv:UnspecifiedMatching DOID:4286 skin nasal cell carcinoma with sebaceous differentiation oboInOwl:hasDbXref NCI:C4346 semapv:UnspecifiedMatching DOID:4287 external ear basal cell carcinoma oboInOwl:hasDbXref NCI:C6082 semapv:UnspecifiedMatching -DOID:4287 external ear basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333491 semapv:UnspecifiedMatching +DOID:4287 external ear basal cell carcinoma oboInOwl:hasDbXref UMLS:C1333491 semapv:UnspecifiedMatching DOID:4288 external ear carcinoma oboInOwl:hasDbXref NCI:C6081 semapv:UnspecifiedMatching -DOID:4288 external ear carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333492 semapv:UnspecifiedMatching +DOID:4288 external ear carcinoma oboInOwl:hasDbXref UMLS:C1333492 semapv:UnspecifiedMatching DOID:429 gynatresia oboInOwl:hasDbXref MESH:D006175 semapv:UnspecifiedMatching DOID:429 gynatresia oboInOwl:hasDbXref NCI:C84743 semapv:UnspecifiedMatching -DOID:429 gynatresia oboInOwl:hasDbXref UMLS_CUI:C0018414 semapv:UnspecifiedMatching +DOID:429 gynatresia oboInOwl:hasDbXref UMLS:C0018414 semapv:UnspecifiedMatching DOID:4290 adamantinoid basal cell epithelioma oboInOwl:hasDbXref NCI:C7585 semapv:UnspecifiedMatching -DOID:4290 adamantinoid basal cell epithelioma oboInOwl:hasDbXref UMLS_CUI:C1304295 semapv:UnspecifiedMatching +DOID:4290 adamantinoid basal cell epithelioma oboInOwl:hasDbXref UMLS:C1304295 semapv:UnspecifiedMatching DOID:4291 fibroepithelial basal cell carcinoma oboInOwl:hasDbXref NCI:C4109 semapv:UnspecifiedMatching -DOID:4291 fibroepithelial basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346013 semapv:UnspecifiedMatching +DOID:4291 fibroepithelial basal cell carcinoma oboInOwl:hasDbXref UMLS:C0346013 semapv:UnspecifiedMatching DOID:4292 morpheaform basal cell carcinoma oboInOwl:hasDbXref NCI:C27182 semapv:UnspecifiedMatching -DOID:4292 morpheaform basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0555191 semapv:UnspecifiedMatching +DOID:4292 morpheaform basal cell carcinoma oboInOwl:hasDbXref UMLS:C0555191 semapv:UnspecifiedMatching DOID:4293 clear cell basal cell carcinoma oboInOwl:hasDbXref NCI:C27536 semapv:UnspecifiedMatching -DOID:4293 clear cell basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516599 semapv:UnspecifiedMatching +DOID:4293 clear cell basal cell carcinoma oboInOwl:hasDbXref UMLS:C1516599 semapv:UnspecifiedMatching DOID:4294 adenoid basal cell carcinoma oboInOwl:hasDbXref NCI:C27535 semapv:UnspecifiedMatching DOID:4295 follicular basal cell carcinoma oboInOwl:hasDbXref NCI:C27538 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref ICD10CM:Q26.8 semapv:UnspecifiedMatching @@ -29722,127 +30035,127 @@ DOID:4297 scimitar syndrome oboInOwl:hasDbXref MESH:D012587 semapv:UnspecifiedMa DOID:4297 scimitar syndrome oboInOwl:hasDbXref NCI:C85056 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref ORDO:185 semapv:UnspecifiedMatching -DOID:4297 scimitar syndrome oboInOwl:hasDbXref UMLS_CUI:C0036400 semapv:UnspecifiedMatching +DOID:4297 scimitar syndrome oboInOwl:hasDbXref UMLS:C0036400 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome skos:exactMatch OMIM:106700 semapv:UnspecifiedMatching DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref ICDO:8091/3 semapv:UnspecifiedMatching DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref NCI:C4108 semapv:UnspecifiedMatching -DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334256 semapv:UnspecifiedMatching +DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref UMLS:C0334256 semapv:UnspecifiedMatching DOID:4301 vulva basal cell carcinoma oboInOwl:hasDbXref NCI:C6381 semapv:UnspecifiedMatching -DOID:4301 vulva basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336977 semapv:UnspecifiedMatching +DOID:4301 vulva basal cell carcinoma oboInOwl:hasDbXref UMLS:C1336977 semapv:UnspecifiedMatching DOID:4303 sarcomatoid basal cell carcinoma oboInOwl:hasDbXref NCI:C38111 semapv:UnspecifiedMatching -DOID:4303 sarcomatoid basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519182 semapv:UnspecifiedMatching +DOID:4303 sarcomatoid basal cell carcinoma oboInOwl:hasDbXref UMLS:C1519182 semapv:UnspecifiedMatching DOID:4304 signet ring basal cell carcinoma oboInOwl:hasDbXref NCI:C38110 semapv:UnspecifiedMatching -DOID:4304 signet ring basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519320 semapv:UnspecifiedMatching +DOID:4304 signet ring basal cell carcinoma oboInOwl:hasDbXref UMLS:C1519320 semapv:UnspecifiedMatching DOID:4305 bone giant cell tumor oboInOwl:hasDbXref MESH:D018212 semapv:UnspecifiedMatching DOID:4305 bone giant cell tumor oboInOwl:hasDbXref NCI:C121932 semapv:UnspecifiedMatching -DOID:4305 bone giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C0206638 semapv:UnspecifiedMatching +DOID:4305 bone giant cell tumor oboInOwl:hasDbXref UMLS:C0206638 semapv:UnspecifiedMatching DOID:4306 radiculopathy oboInOwl:hasDbXref ICD10CM:M54.1 semapv:UnspecifiedMatching DOID:4306 radiculopathy oboInOwl:hasDbXref MESH:D011843 semapv:UnspecifiedMatching -DOID:4306 radiculopathy oboInOwl:hasDbXref UMLS_CUI:C0700594 semapv:UnspecifiedMatching +DOID:4306 radiculopathy oboInOwl:hasDbXref UMLS:C0700594 semapv:UnspecifiedMatching DOID:4307 polyradiculopathy oboInOwl:hasDbXref MESH:D011128 semapv:UnspecifiedMatching DOID:4307 polyradiculopathy oboInOwl:hasDbXref NCI:C34934 semapv:UnspecifiedMatching -DOID:4307 polyradiculopathy oboInOwl:hasDbXref UMLS_CUI:C0032586 semapv:UnspecifiedMatching +DOID:4307 polyradiculopathy oboInOwl:hasDbXref UMLS:C0032586 semapv:UnspecifiedMatching DOID:4308 polyradiculoneuropathy oboInOwl:hasDbXref MESH:D011129 semapv:UnspecifiedMatching -DOID:4308 polyradiculoneuropathy oboInOwl:hasDbXref UMLS_CUI:C0032587 semapv:UnspecifiedMatching +DOID:4308 polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C0032587 semapv:UnspecifiedMatching DOID:431 myofascial pain syndrome oboInOwl:hasDbXref MESH:D009209 semapv:UnspecifiedMatching -DOID:431 myofascial pain syndrome oboInOwl:hasDbXref UMLS_CUI:C0027073 semapv:UnspecifiedMatching +DOID:431 myofascial pain syndrome oboInOwl:hasDbXref UMLS:C0027073 semapv:UnspecifiedMatching DOID:4310 smooth muscle tumor oboInOwl:hasDbXref MESH:D018235 semapv:UnspecifiedMatching DOID:4310 smooth muscle tumor oboInOwl:hasDbXref NCI:C3751 semapv:UnspecifiedMatching -DOID:4310 smooth muscle tumor oboInOwl:hasDbXref UMLS_CUI:C0206658 semapv:UnspecifiedMatching +DOID:4310 smooth muscle tumor oboInOwl:hasDbXref UMLS:C0206658 semapv:UnspecifiedMatching DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref ICD10CM:L12.3 semapv:UnspecifiedMatching DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref MESH:D016107 semapv:UnspecifiedMatching DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref NCI:C84690 semapv:UnspecifiedMatching -DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS_CUI:C0079293 semapv:UnspecifiedMatching +DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS:C0079293 semapv:UnspecifiedMatching DOID:4320 non-gestational choriocarcinoma oboInOwl:hasDbXref MESH:D031954 semapv:UnspecifiedMatching -DOID:4320 non-gestational choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1135873 semapv:UnspecifiedMatching +DOID:4320 non-gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C1135873 semapv:UnspecifiedMatching DOID:4321 large cell acanthoma oboInOwl:hasDbXref ICDO:8072/0 semapv:UnspecifiedMatching DOID:4321 large cell acanthoma oboInOwl:hasDbXref NCI:C27518 semapv:UnspecifiedMatching -DOID:4321 large cell acanthoma oboInOwl:hasDbXref UMLS_CUI:C1334362 semapv:UnspecifiedMatching +DOID:4321 large cell acanthoma oboInOwl:hasDbXref UMLS:C1334362 semapv:UnspecifiedMatching DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref ICDO:8104/0 semapv:UnspecifiedMatching DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref MESH:D049309 semapv:UnspecifiedMatching DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref NCI:C4468 semapv:UnspecifiedMatching -DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref UMLS_CUI:C0346005 semapv:UnspecifiedMatching +DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref UMLS:C0346005 semapv:UnspecifiedMatching DOID:4323 epidermolytic acanthoma oboInOwl:hasDbXref NCI:C27516 semapv:UnspecifiedMatching -DOID:4323 epidermolytic acanthoma oboInOwl:hasDbXref UMLS_CUI:C1333414 semapv:UnspecifiedMatching +DOID:4323 epidermolytic acanthoma oboInOwl:hasDbXref UMLS:C1333414 semapv:UnspecifiedMatching DOID:4324 acantholytic acanthoma oboInOwl:hasDbXref NCI:C27517 semapv:UnspecifiedMatching -DOID:4324 acantholytic acanthoma oboInOwl:hasDbXref UMLS_CUI:C1301270 semapv:UnspecifiedMatching +DOID:4324 acantholytic acanthoma oboInOwl:hasDbXref UMLS:C1301270 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref GARD:2035 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.4 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref MESH:D019142 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref NCI:C36171 semapv:UnspecifiedMatching -DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0282687 semapv:UnspecifiedMatching +DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282687 semapv:UnspecifiedMatching DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref GARD:9444 semapv:UnspecifiedMatching DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.3 semapv:UnspecifiedMatching DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref MESH:D008379 semapv:UnspecifiedMatching DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref NCI:C84883 semapv:UnspecifiedMatching -DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0024788 semapv:UnspecifiedMatching +DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS:C0024788 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref GARD:6369 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref ICDO:9749/3 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref MESH:D031249 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref NCI:C53972 semapv:UnspecifiedMatching -DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref UMLS_CUI:C0878675 semapv:UnspecifiedMatching +DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref UMLS:C0878675 semapv:UnspecifiedMatching DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref GARD:8231 semapv:UnspecifiedMatching DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching -DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019624 semapv:UnspecifiedMatching +DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS:C0019624 semapv:UnspecifiedMatching DOID:4331 burning mouth syndrome oboInOwl:hasDbXref GARD:5974 semapv:UnspecifiedMatching DOID:4331 burning mouth syndrome oboInOwl:hasDbXref MESH:D002054 semapv:UnspecifiedMatching DOID:4331 burning mouth syndrome oboInOwl:hasDbXref NCI:C62545 semapv:UnspecifiedMatching -DOID:4331 burning mouth syndrome oboInOwl:hasDbXref UMLS_CUI:C0006430 semapv:UnspecifiedMatching +DOID:4331 burning mouth syndrome oboInOwl:hasDbXref UMLS:C0006430 semapv:UnspecifiedMatching DOID:4333 parovarian cyst oboInOwl:hasDbXref ICD10CM:Q50.5 semapv:UnspecifiedMatching DOID:4333 parovarian cyst oboInOwl:hasDbXref MESH:D010310 semapv:UnspecifiedMatching -DOID:4333 parovarian cyst oboInOwl:hasDbXref UMLS_CUI:C0030584 semapv:UnspecifiedMatching +DOID:4333 parovarian cyst oboInOwl:hasDbXref UMLS:C0030584 semapv:UnspecifiedMatching DOID:4334 splenic manifestation of prolymphocytic leukemia oboInOwl:hasDbXref NCI:C7297 semapv:UnspecifiedMatching -DOID:4334 splenic manifestation of prolymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C1336066 semapv:UnspecifiedMatching +DOID:4334 splenic manifestation of prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C1336066 semapv:UnspecifiedMatching DOID:4336 tinea favosa oboInOwl:hasDbXref ICD10CM:B35 semapv:UnspecifiedMatching DOID:4336 tinea favosa oboInOwl:hasDbXref MESH:D014007 semapv:UnspecifiedMatching DOID:4336 tinea favosa oboInOwl:hasDbXref NCI:C35072 semapv:UnspecifiedMatching -DOID:4336 tinea favosa oboInOwl:hasDbXref UMLS_CUI:C0040254 semapv:UnspecifiedMatching +DOID:4336 tinea favosa oboInOwl:hasDbXref UMLS:C0040254 semapv:UnspecifiedMatching DOID:4337 tinea capitis oboInOwl:hasDbXref ICD9CM:110.0 semapv:UnspecifiedMatching DOID:4337 tinea capitis oboInOwl:hasDbXref NCI:C34536 semapv:UnspecifiedMatching -DOID:4337 tinea capitis oboInOwl:hasDbXref UMLS_CUI:C0011640 semapv:UnspecifiedMatching +DOID:4337 tinea capitis oboInOwl:hasDbXref UMLS:C0011640 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref GARD:7848 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref MESH:D046350 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref NCI:C85219 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching -DOID:4346 variegate porphyria oboInOwl:hasDbXref UMLS_CUI:C0162532 semapv:UnspecifiedMatching +DOID:4346 variegate porphyria oboInOwl:hasDbXref UMLS:C0162532 semapv:UnspecifiedMatching DOID:4346 variegate porphyria skos:exactMatch OMIM:176200 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref MESH:D008210 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref NCI:C78442 semapv:UnspecifiedMatching -DOID:4347 lymphocele oboInOwl:hasDbXref UMLS_CUI:C0024248 semapv:UnspecifiedMatching +DOID:4347 lymphocele oboInOwl:hasDbXref UMLS:C0024248 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref ICD10CM:C69.4 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref NCI:C4364 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref NCI:C4766 semapv:UnspecifiedMatching -DOID:4352 ciliary body cancer oboInOwl:hasDbXref UMLS_CUI:C0339349 semapv:UnspecifiedMatching -DOID:4352 ciliary body cancer oboInOwl:hasDbXref UMLS_CUI:C0496833 semapv:UnspecifiedMatching +DOID:4352 ciliary body cancer oboInOwl:hasDbXref UMLS:C0339349 semapv:UnspecifiedMatching +DOID:4352 ciliary body cancer oboInOwl:hasDbXref UMLS:C0496833 semapv:UnspecifiedMatching DOID:4353 ciliary body disease oboInOwl:hasDbXref NCI:C35775 semapv:UnspecifiedMatching -DOID:4353 ciliary body disease oboInOwl:hasDbXref UMLS_CUI:C0271100 semapv:UnspecifiedMatching +DOID:4353 ciliary body disease oboInOwl:hasDbXref UMLS:C0271100 semapv:UnspecifiedMatching DOID:4359 amelanotic melanoma oboInOwl:hasDbXref ICDO:8730/3 semapv:UnspecifiedMatching DOID:4359 amelanotic melanoma oboInOwl:hasDbXref MESH:D018328 semapv:UnspecifiedMatching DOID:4359 amelanotic melanoma oboInOwl:hasDbXref NCI:C3802 semapv:UnspecifiedMatching -DOID:4359 amelanotic melanoma oboInOwl:hasDbXref UMLS_CUI:C0206735 semapv:UnspecifiedMatching +DOID:4359 amelanotic melanoma oboInOwl:hasDbXref UMLS:C0206735 semapv:UnspecifiedMatching DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref ICD10CM:C38.2 semapv:UnspecifiedMatching DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref ICD9CM:164.3 semapv:UnspecifiedMatching -DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref UMLS_CUI:C0153502 semapv:UnspecifiedMatching +DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref UMLS:C0153502 semapv:UnspecifiedMatching DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref ICDO:8771/3 semapv:UnspecifiedMatching DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref NCI:C4236 semapv:UnspecifiedMatching -DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C0334443 semapv:UnspecifiedMatching +DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref UMLS:C0334443 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref ICD10CM:C53 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref ICD9CM:180 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref MESH:D002583 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C2940 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C9311 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref OMIM:603956 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS_CUI:C0007847 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS_CUI:C0007873 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS:C0007847 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS:C0007873 semapv:UnspecifiedMatching DOID:4362 cervical cancer skos:exactMatch OMIM:603956 semapv:UnspecifiedMatching DOID:4364 malignant breast melanoma oboInOwl:hasDbXref NCI:C8410 semapv:UnspecifiedMatching -DOID:4364 malignant breast melanoma oboInOwl:hasDbXref UMLS_CUI:C0346787 semapv:UnspecifiedMatching +DOID:4364 malignant breast melanoma oboInOwl:hasDbXref UMLS:C0346787 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref GARD:433 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref NCI:C123231 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref ORDO:320 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref UMLS_CUI:C0342488 semapv:UnspecifiedMatching +DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref UMLS:C0342488 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome skos:exactMatch OMIM:218030 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref GARD:7122 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD10CM:G70.0 semapv:UnspecifiedMatching @@ -29852,108 +30165,108 @@ DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD9CM:358.00 semapv:UnspecifiedMa DOID:437 myasthenia gravis oboInOwl:hasDbXref MESH:D009157 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref NCI:C60989 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C0026896 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C1260409 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS:C0026896 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS:C1260409 semapv:UnspecifiedMatching DOID:437 myasthenia gravis skos:exactMatch OMIM:254200 semapv:UnspecifiedMatching DOID:4370 stomach diverticulosis oboInOwl:hasDbXref MESH:D045724 semapv:UnspecifiedMatching -DOID:4370 stomach diverticulosis oboInOwl:hasDbXref UMLS_CUI:C1148546 semapv:UnspecifiedMatching +DOID:4370 stomach diverticulosis oboInOwl:hasDbXref UMLS:C1148546 semapv:UnspecifiedMatching DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref GARD:12390 semapv:UnspecifiedMatching DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref MESH:D019873 semapv:UnspecifiedMatching -DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref UMLS_CUI:C0524988 semapv:UnspecifiedMatching +DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref UMLS:C0524988 semapv:UnspecifiedMatching DOID:4372 intracranial embolism oboInOwl:hasDbXref ICD10CM:I66 semapv:UnspecifiedMatching DOID:4372 intracranial embolism oboInOwl:hasDbXref ICD9CM:434.1 semapv:UnspecifiedMatching DOID:4372 intracranial embolism oboInOwl:hasDbXref MESH:D020766 semapv:UnspecifiedMatching -DOID:4372 intracranial embolism oboInOwl:hasDbXref UMLS_CUI:C0007780 semapv:UnspecifiedMatching -DOID:4372 intracranial embolism oboInOwl:hasDbXref UMLS_CUI:C0752140 semapv:UnspecifiedMatching +DOID:4372 intracranial embolism oboInOwl:hasDbXref UMLS:C0007780 semapv:UnspecifiedMatching +DOID:4372 intracranial embolism oboInOwl:hasDbXref UMLS:C0752140 semapv:UnspecifiedMatching DOID:4374 Silo filler's disease oboInOwl:hasDbXref MESH:D012832 semapv:UnspecifiedMatching -DOID:4374 Silo filler's disease oboInOwl:hasDbXref UMLS_CUI:C0037120 semapv:UnspecifiedMatching +DOID:4374 Silo filler's disease oboInOwl:hasDbXref UMLS:C0037120 semapv:UnspecifiedMatching DOID:4376 milk allergy oboInOwl:hasDbXref MESH:D016269 semapv:UnspecifiedMatching -DOID:4376 milk allergy oboInOwl:hasDbXref UMLS_CUI:C0079840 semapv:UnspecifiedMatching +DOID:4376 milk allergy oboInOwl:hasDbXref UMLS:C0079840 semapv:UnspecifiedMatching DOID:4377 egg allergy oboInOwl:hasDbXref MESH:D021181 semapv:UnspecifiedMatching DOID:4377 egg allergy oboInOwl:hasDbXref NCI:C172313 semapv:UnspecifiedMatching -DOID:4377 egg allergy oboInOwl:hasDbXref UMLS_CUI:C0559469 semapv:UnspecifiedMatching +DOID:4377 egg allergy oboInOwl:hasDbXref UMLS:C0559469 semapv:UnspecifiedMatching DOID:4378 peanut allergy oboInOwl:hasDbXref MESH:D021183 semapv:UnspecifiedMatching -DOID:4378 peanut allergy oboInOwl:hasDbXref UMLS_CUI:C0559470 semapv:UnspecifiedMatching +DOID:4378 peanut allergy oboInOwl:hasDbXref UMLS:C0559470 semapv:UnspecifiedMatching DOID:4379 nut allergy oboInOwl:hasDbXref MESH:D021184 semapv:UnspecifiedMatching DOID:4379 nut allergy oboInOwl:hasDbXref NCI:C175521 semapv:UnspecifiedMatching -DOID:4379 nut allergy oboInOwl:hasDbXref UMLS_CUI:C0577620 semapv:UnspecifiedMatching +DOID:4379 nut allergy oboInOwl:hasDbXref UMLS:C0577620 semapv:UnspecifiedMatching DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref MESH:D020274 semapv:UnspecifiedMatching DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref NCI:C99383 semapv:UnspecifiedMatching -DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref UMLS_CUI:C0751871 semapv:UnspecifiedMatching +DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref UMLS:C0751871 semapv:UnspecifiedMatching DOID:4384 orbit alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6247 semapv:UnspecifiedMatching -DOID:4384 orbit alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335126 semapv:UnspecifiedMatching +DOID:4384 orbit alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335126 semapv:UnspecifiedMatching DOID:4385 papillary squamous carcinoma oboInOwl:hasDbXref NCI:C4102 semapv:UnspecifiedMatching -DOID:4385 papillary squamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334244 semapv:UnspecifiedMatching +DOID:4385 papillary squamous carcinoma oboInOwl:hasDbXref UMLS:C0334244 semapv:UnspecifiedMatching DOID:4386 myofibroma oboInOwl:hasDbXref ICDO:8824/0 semapv:UnspecifiedMatching DOID:4386 myofibroma oboInOwl:hasDbXref MESH:D047708 semapv:UnspecifiedMatching -DOID:4386 myofibroma oboInOwl:hasDbXref UMLS_CUI:C1266121 semapv:UnspecifiedMatching +DOID:4386 myofibroma oboInOwl:hasDbXref UMLS:C1266121 semapv:UnspecifiedMatching DOID:4388 bone peripheral neuroepithelioma oboInOwl:hasDbXref NCI:C8776 semapv:UnspecifiedMatching -DOID:4388 bone peripheral neuroepithelioma oboInOwl:hasDbXref UMLS_CUI:C0855009 semapv:UnspecifiedMatching +DOID:4388 bone peripheral neuroepithelioma oboInOwl:hasDbXref UMLS:C0855009 semapv:UnspecifiedMatching DOID:4389 soft tissue peripheral neuroepithelioma oboInOwl:hasDbXref NCI:C27471 semapv:UnspecifiedMatching -DOID:4389 soft tissue peripheral neuroepithelioma oboInOwl:hasDbXref UMLS_CUI:C1112437 semapv:UnspecifiedMatching +DOID:4389 soft tissue peripheral neuroepithelioma oboInOwl:hasDbXref UMLS:C1112437 semapv:UnspecifiedMatching DOID:439 neuromuscular junction disease oboInOwl:hasDbXref MESH:D020511 semapv:UnspecifiedMatching -DOID:439 neuromuscular junction disease oboInOwl:hasDbXref UMLS_CUI:C0751950 semapv:UnspecifiedMatching +DOID:439 neuromuscular junction disease oboInOwl:hasDbXref UMLS:C0751950 semapv:UnspecifiedMatching DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref GARD:12967 semapv:UnspecifiedMatching DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref NCI:C3356 semapv:UnspecifiedMatching -DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref UMLS_CUI:C0035290 semapv:UnspecifiedMatching +DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref UMLS:C0035290 semapv:UnspecifiedMatching DOID:4397 granulomatous dermatitis oboInOwl:hasDbXref NCI:C3505 semapv:UnspecifiedMatching -DOID:4397 granulomatous dermatitis oboInOwl:hasDbXref UMLS_CUI:C0743086 semapv:UnspecifiedMatching +DOID:4397 granulomatous dermatitis oboInOwl:hasDbXref UMLS:C0743086 semapv:UnspecifiedMatching DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref ICD10CM:L40.3 semapv:UnspecifiedMatching DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref NCI:C34888 semapv:UnspecifiedMatching -DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref UMLS_CUI:C0030246 semapv:UnspecifiedMatching +DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref UMLS:C0030246 semapv:UnspecifiedMatching DOID:4399 acneiform dermatitis oboInOwl:hasDbXref NCI:C35277 semapv:UnspecifiedMatching -DOID:4399 acneiform dermatitis oboInOwl:hasDbXref UMLS_CUI:C0234894 semapv:UnspecifiedMatching +DOID:4399 acneiform dermatitis oboInOwl:hasDbXref UMLS:C0234894 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref ICD10CM:G70.9 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref ICD9CM:358 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref MESH:D009468 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref NCI:C189005 semapv:UnspecifiedMatching -DOID:440 neuromuscular disease oboInOwl:hasDbXref UMLS_CUI:C0027868 semapv:UnspecifiedMatching +DOID:440 neuromuscular disease oboInOwl:hasDbXref UMLS:C0027868 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref MESH:C562379 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref NCI:C2984 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref OMIM:125600 semapv:UnspecifiedMatching -DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref UMLS_CUI:C0011645 semapv:UnspecifiedMatching +DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref UMLS:C0011645 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra skos:exactMatch OMIM:125600 semapv:UnspecifiedMatching DOID:4404 occupational dermatitis oboInOwl:hasDbXref MESH:D009783 semapv:UnspecifiedMatching DOID:4404 occupational dermatitis oboInOwl:hasDbXref NCI:C34859 semapv:UnspecifiedMatching -DOID:4404 occupational dermatitis oboInOwl:hasDbXref UMLS_CUI:C0028796 semapv:UnspecifiedMatching +DOID:4404 occupational dermatitis oboInOwl:hasDbXref UMLS:C0028796 semapv:UnspecifiedMatching DOID:4406 spongiotic dermatitis oboInOwl:hasDbXref NCI:C27037 semapv:UnspecifiedMatching -DOID:4406 spongiotic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0262984 semapv:UnspecifiedMatching +DOID:4406 spongiotic dermatitis oboInOwl:hasDbXref UMLS:C0262984 semapv:UnspecifiedMatching DOID:4407 phototoxic dermatitis oboInOwl:hasDbXref MESH:D017484 semapv:UnspecifiedMatching DOID:4407 phototoxic dermatitis oboInOwl:hasDbXref NCI:C4816 semapv:UnspecifiedMatching -DOID:4407 phototoxic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162830 semapv:UnspecifiedMatching +DOID:4407 phototoxic dermatitis oboInOwl:hasDbXref UMLS:C0162830 semapv:UnspecifiedMatching DOID:4409 folliculitis oboInOwl:hasDbXref MESH:D005499 semapv:UnspecifiedMatching DOID:4409 folliculitis oboInOwl:hasDbXref NCI:C94408 semapv:UnspecifiedMatching -DOID:4409 folliculitis oboInOwl:hasDbXref UMLS_CUI:C0016436 semapv:UnspecifiedMatching +DOID:4409 folliculitis oboInOwl:hasDbXref UMLS:C0016436 semapv:UnspecifiedMatching DOID:4411 hepatitis E oboInOwl:hasDbXref GARD:9541 semapv:UnspecifiedMatching DOID:4411 hepatitis E oboInOwl:hasDbXref MESH:D016751 semapv:UnspecifiedMatching -DOID:4411 hepatitis E oboInOwl:hasDbXref UMLS_CUI:C0085293 semapv:UnspecifiedMatching +DOID:4411 hepatitis E oboInOwl:hasDbXref UMLS:C0085293 semapv:UnspecifiedMatching DOID:4413 cervix melanoma oboInOwl:hasDbXref NCI:C40239 semapv:UnspecifiedMatching -DOID:4413 cervix melanoma oboInOwl:hasDbXref UMLS_CUI:C0877611 semapv:UnspecifiedMatching +DOID:4413 cervix melanoma oboInOwl:hasDbXref UMLS:C0877611 semapv:UnspecifiedMatching DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref MESH:D018219 semapv:UnspecifiedMatching DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref NCI:C3739 semapv:UnspecifiedMatching -DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0206644 semapv:UnspecifiedMatching +DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref UMLS:C0206644 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref GARD:9807 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref MESH:D018219 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref NCI:C6801 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref NCI:C7749 semapv:UnspecifiedMatching -DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0002991 semapv:UnspecifiedMatching -DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0346049 semapv:UnspecifiedMatching +DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS:C0002991 semapv:UnspecifiedMatching +DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS:C0346049 semapv:UnspecifiedMatching DOID:4419 benign deep fibrous histiocytoma oboInOwl:hasDbXref NCI:C6492 semapv:UnspecifiedMatching -DOID:4419 benign deep fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1266125 semapv:UnspecifiedMatching +DOID:4419 benign deep fibrous histiocytoma oboInOwl:hasDbXref UMLS:C1266125 semapv:UnspecifiedMatching DOID:4422 malignant adenofibroma oboInOwl:hasDbXref NCI:C40035 semapv:UnspecifiedMatching -DOID:4422 malignant adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1510778 semapv:UnspecifiedMatching +DOID:4422 malignant adenofibroma oboInOwl:hasDbXref UMLS:C1510778 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref MESH:D012618 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref NCI:C85062 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching -DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0036489 semapv:UnspecifiedMatching +DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref UMLS:C0036489 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis skos:exactMatch OMIM:269600 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref ICDO:9749/1 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref NCI:C3451 semapv:UnspecifiedMatching -DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref UMLS_CUI:C0043324 semapv:UnspecifiedMatching +DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref UMLS:C0043324 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref ICD10CM:F81.0 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref MESH:D004410 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref NCI:C96410 semapv:UnspecifiedMatching @@ -29963,57 +30276,57 @@ DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:604254 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606616 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606896 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:608995 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref UMLS_CUI:C0476254 semapv:UnspecifiedMatching +DOID:4428 dyslexia oboInOwl:hasDbXref UMLS:C0476254 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref GARD:4900 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref ICDO:8156/3 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref MESH:D013005 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref NCI:C3379 semapv:UnspecifiedMatching -DOID:4430 somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C0037661 semapv:UnspecifiedMatching +DOID:4430 somatostatinoma oboInOwl:hasDbXref UMLS:C0037661 semapv:UnspecifiedMatching DOID:4432 pancreatic somatostatinoma oboInOwl:hasDbXref NCI:C95595 semapv:UnspecifiedMatching -DOID:4432 pancreatic somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C1368041 semapv:UnspecifiedMatching +DOID:4432 pancreatic somatostatinoma oboInOwl:hasDbXref UMLS:C1368041 semapv:UnspecifiedMatching DOID:4433 pancreatic delta cell neoplasm oboInOwl:hasDbXref NCI:C28396 semapv:UnspecifiedMatching -DOID:4433 pancreatic delta cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335301 semapv:UnspecifiedMatching +DOID:4433 pancreatic delta cell neoplasm oboInOwl:hasDbXref UMLS:C1335301 semapv:UnspecifiedMatching DOID:4434 small intestine neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5803 semapv:UnspecifiedMatching -DOID:4434 small intestine neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336005 semapv:UnspecifiedMatching +DOID:4434 small intestine neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1336005 semapv:UnspecifiedMatching DOID:4435 cavernous sinus meningioma oboInOwl:hasDbXref NCI:C5268 semapv:UnspecifiedMatching -DOID:4435 cavernous sinus meningioma oboInOwl:hasDbXref UMLS_CUI:C1332865 semapv:UnspecifiedMatching +DOID:4435 cavernous sinus meningioma oboInOwl:hasDbXref UMLS:C1332865 semapv:UnspecifiedMatching DOID:4436 anterior cranial fossa meningioma oboInOwl:hasDbXref NCI:C5286 semapv:UnspecifiedMatching -DOID:4436 anterior cranial fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1332301 semapv:UnspecifiedMatching +DOID:4436 anterior cranial fossa meningioma oboInOwl:hasDbXref UMLS:C1332301 semapv:UnspecifiedMatching DOID:4437 skull base meningioma oboInOwl:hasDbXref NCI:C5272 semapv:UnspecifiedMatching -DOID:4437 skull base meningioma oboInOwl:hasDbXref UMLS_CUI:C1335976 semapv:UnspecifiedMatching +DOID:4437 skull base meningioma oboInOwl:hasDbXref UMLS:C1335976 semapv:UnspecifiedMatching DOID:4438 central nervous system germinoma oboInOwl:hasDbXref GARD:2005 semapv:UnspecifiedMatching DOID:4438 central nervous system germinoma oboInOwl:hasDbXref NCI:C7009 semapv:UnspecifiedMatching -DOID:4438 central nervous system germinoma oboInOwl:hasDbXref UMLS_CUI:C1333813 semapv:UnspecifiedMatching +DOID:4438 central nervous system germinoma oboInOwl:hasDbXref UMLS:C1333813 semapv:UnspecifiedMatching DOID:4439 central nervous system germ cell tumor oboInOwl:hasDbXref NCI:C5461 semapv:UnspecifiedMatching -DOID:4439 central nervous system germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332880 semapv:UnspecifiedMatching +DOID:4439 central nervous system germ cell tumor oboInOwl:hasDbXref UMLS:C1332880 semapv:UnspecifiedMatching DOID:4440 seminoma oboInOwl:hasDbXref ICDO:9061/3 semapv:UnspecifiedMatching DOID:4440 seminoma oboInOwl:hasDbXref MESH:D018239 semapv:UnspecifiedMatching DOID:4440 seminoma oboInOwl:hasDbXref NCI:C9309 semapv:UnspecifiedMatching -DOID:4440 seminoma oboInOwl:hasDbXref UMLS_CUI:C0036631 semapv:UnspecifiedMatching +DOID:4440 seminoma oboInOwl:hasDbXref UMLS:C0036631 semapv:UnspecifiedMatching DOID:4441 dysgerminoma oboInOwl:hasDbXref ICDO:9060/3 semapv:UnspecifiedMatching DOID:4441 dysgerminoma oboInOwl:hasDbXref MESH:D004407 semapv:UnspecifiedMatching -DOID:4441 dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C0013377 semapv:UnspecifiedMatching +DOID:4441 dysgerminoma oboInOwl:hasDbXref UMLS:C0013377 semapv:UnspecifiedMatching DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C40225 semapv:UnspecifiedMatching -DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C1516408 semapv:UnspecifiedMatching +DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C1516408 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref MESH:D008269 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref NCI:C34794 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref OMIM:153880 semapv:UnspecifiedMatching -DOID:4447 cystoid macular edema oboInOwl:hasDbXref UMLS_CUI:C0024440 semapv:UnspecifiedMatching +DOID:4447 cystoid macular edema oboInOwl:hasDbXref UMLS:C0024440 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema skos:exactMatch OMIM:153880 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref NCI:C123330 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref ORDO:279 semapv:UnspecifiedMatching -DOID:4448 macular degeneration oboInOwl:hasDbXref UMLS_CUI:C0024437 semapv:UnspecifiedMatching +DOID:4448 macular degeneration oboInOwl:hasDbXref UMLS:C0024437 semapv:UnspecifiedMatching DOID:4449 macular retinal edema oboInOwl:hasDbXref MESH:D008269 semapv:UnspecifiedMatching DOID:4449 macular retinal edema oboInOwl:hasDbXref NCI:C35468 semapv:UnspecifiedMatching -DOID:4449 macular retinal edema oboInOwl:hasDbXref UMLS_CUI:C0271051 semapv:UnspecifiedMatching +DOID:4449 macular retinal edema oboInOwl:hasDbXref UMLS:C0271051 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref GARD:5893 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref ICD10CM:E26.81 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref ICD9CM:255.13 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref MESH:D001477 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref NCI:C34412 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref OMIMPS:601678 semapv:UnspecifiedMatching -DOID:445 Bartter disease oboInOwl:hasDbXref UMLS_CUI:C0004775 semapv:UnspecifiedMatching +DOID:445 Bartter disease oboInOwl:hasDbXref UMLS:C0004775 semapv:UnspecifiedMatching DOID:445 Bartter disease skos:exactMatch OMIMPS:601678 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref EFO:0000681 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref GARD:13215 semapv:UnspecifiedMatching @@ -30022,12 +30335,12 @@ DOID:4450 renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:Unspecifie DOID:4450 renal cell carcinoma oboInOwl:hasDbXref NCI:C9385 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ORDO:217071 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007134 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref UMLS:C0007134 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma skos:exactMatch OMIM:300854 semapv:UnspecifiedMatching DOID:4451 renal carcinoma oboInOwl:hasDbXref NCI:C9384 semapv:UnspecifiedMatching -DOID:4451 renal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1378703 semapv:UnspecifiedMatching +DOID:4451 renal carcinoma oboInOwl:hasDbXref UMLS:C1378703 semapv:UnspecifiedMatching DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref NCI:C6568 semapv:UnspecifiedMatching -DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333001 semapv:UnspecifiedMatching +DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref UMLS:C1333001 semapv:UnspecifiedMatching DOID:4455 hereditary renal cell carcinoma oboInOwl:hasDbXref GARD:9571 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD10CM:E24 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD10CM:E26 semapv:UnspecifiedMatching @@ -30040,268 +30353,268 @@ DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C2969 semapv:Unspecif DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ORDO:235936 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0010481 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0020428 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C0010481 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C0020428 semapv:UnspecifiedMatching DOID:4463 multilocular clear cell renal cell carcinoma oboInOwl:hasDbXref NCI:C4524 semapv:UnspecifiedMatching -DOID:4463 multilocular clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346249 semapv:UnspecifiedMatching +DOID:4463 multilocular clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS:C0346249 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref GARD:9573 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref ICDO:8319/3 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref NCI:C6194 semapv:UnspecifiedMatching -DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266044 semapv:UnspecifiedMatching +DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref UMLS:C1266044 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref GARD:9572 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C27890 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C6975 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1306837 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336078 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1306837 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1336078 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma skos:exactMatch OMIM:605074 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref GARD:9574 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref NCI:C4033 semapv:UnspecifiedMatching -DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279702 semapv:UnspecifiedMatching +DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS:C0279702 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref ICDO:8310/3 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref MESH:D008649 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref MESH:D018262 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C36815 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C4072 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C4156 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0025490 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206681 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334322 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0025490 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0206681 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0334322 semapv:UnspecifiedMatching DOID:447 renal tubular transport disease oboInOwl:hasDbXref MESH:D015499 semapv:UnspecifiedMatching -DOID:447 renal tubular transport disease oboInOwl:hasDbXref UMLS_CUI:C0035091 semapv:UnspecifiedMatching +DOID:447 renal tubular transport disease oboInOwl:hasDbXref UMLS:C0035091 semapv:UnspecifiedMatching DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref GARD:6064 semapv:UnspecifiedMatching DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C4146 semapv:UnspecifiedMatching -DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266042 semapv:UnspecifiedMatching +DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS:C1266042 semapv:UnspecifiedMatching DOID:4472 mucinous tubular and spindle renal cell carcinoma oboInOwl:hasDbXref NCI:C39807 semapv:UnspecifiedMatching -DOID:4472 mucinous tubular and spindle renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513719 semapv:UnspecifiedMatching +DOID:4472 mucinous tubular and spindle renal cell carcinoma oboInOwl:hasDbXref UMLS:C1513719 semapv:UnspecifiedMatching DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref NCI:C27893 semapv:UnspecifiedMatching -DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266043 semapv:UnspecifiedMatching +DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref UMLS:C1266043 semapv:UnspecifiedMatching DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref NCI:C85034 semapv:UnspecifiedMatching -DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0033805 semapv:UnspecifiedMatching +DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref UMLS:C0033805 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref GARD:8173 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref NCI:C34345 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching -DOID:4480 achondroplasia oboInOwl:hasDbXref UMLS_CUI:C0001080 semapv:UnspecifiedMatching +DOID:4480 achondroplasia oboInOwl:hasDbXref UMLS:C0001080 semapv:UnspecifiedMatching DOID:4480 achondroplasia skos:exactMatch MESH:D000130 semapv:UnspecifiedMatching DOID:4480 achondroplasia skos:exactMatch OMIM:100800 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref EFO:0003956 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref NCI:C34987 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref OMIM:607154 semapv:UnspecifiedMatching -DOID:4481 allergic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0002103 semapv:UnspecifiedMatching +DOID:4481 allergic rhinitis oboInOwl:hasDbXref UMLS:C0002103 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis skos:exactMatch MESH:D065631 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis skos:exactMatch OMIM:607154 semapv:UnspecifiedMatching DOID:4483 rhinitis oboInOwl:hasDbXref MESH:D012220 semapv:UnspecifiedMatching DOID:4483 rhinitis oboInOwl:hasDbXref NCI:C34986 semapv:UnspecifiedMatching -DOID:4483 rhinitis oboInOwl:hasDbXref UMLS_CUI:C0035455 semapv:UnspecifiedMatching +DOID:4483 rhinitis oboInOwl:hasDbXref UMLS:C0035455 semapv:UnspecifiedMatching DOID:4486 malignant biphasic mesothelioma oboInOwl:hasDbXref NCI:C4282 semapv:UnspecifiedMatching -DOID:4486 malignant biphasic mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334515 semapv:UnspecifiedMatching +DOID:4486 malignant biphasic mesothelioma oboInOwl:hasDbXref UMLS:C0334515 semapv:UnspecifiedMatching DOID:4488 sarcomatoid mesothelioma oboInOwl:hasDbXref NCI:C45655 semapv:UnspecifiedMatching -DOID:4488 sarcomatoid mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334513 semapv:UnspecifiedMatching +DOID:4488 sarcomatoid mesothelioma oboInOwl:hasDbXref UMLS:C0334513 semapv:UnspecifiedMatching DOID:4489 malignant epithelial mesothelioma oboInOwl:hasDbXref NCI:C7985 semapv:UnspecifiedMatching -DOID:4489 malignant epithelial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0862312 semapv:UnspecifiedMatching +DOID:4489 malignant epithelial mesothelioma oboInOwl:hasDbXref UMLS:C0862312 semapv:UnspecifiedMatching DOID:4491 persian gulf syndrome oboInOwl:hasDbXref MESH:D018923 semapv:UnspecifiedMatching -DOID:4491 persian gulf syndrome oboInOwl:hasDbXref UMLS_CUI:C0282550 semapv:UnspecifiedMatching +DOID:4491 persian gulf syndrome oboInOwl:hasDbXref UMLS:C0282550 semapv:UnspecifiedMatching DOID:4492 avian influenza oboInOwl:hasDbXref ICD10CM:J09.X semapv:UnspecifiedMatching DOID:4492 avian influenza oboInOwl:hasDbXref MESH:D005585 semapv:UnspecifiedMatching -DOID:4492 avian influenza oboInOwl:hasDbXref UMLS_CUI:C0016627 semapv:UnspecifiedMatching +DOID:4492 avian influenza oboInOwl:hasDbXref UMLS:C0016627 semapv:UnspecifiedMatching DOID:450 myotonic disease oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching DOID:450 myotonic disease oboInOwl:hasDbXref ICD9CM:359.2 semapv:UnspecifiedMatching DOID:450 myotonic disease oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching DOID:450 myotonic disease oboInOwl:hasDbXref NCI:C84913 semapv:UnspecifiedMatching -DOID:450 myotonic disease oboInOwl:hasDbXref UMLS_CUI:C0553604 semapv:UnspecifiedMatching +DOID:450 myotonic disease oboInOwl:hasDbXref UMLS:C0553604 semapv:UnspecifiedMatching DOID:450 myotonic disease skos:exactMatch MESH:D009223 semapv:UnspecifiedMatching DOID:4500 hypokalemia oboInOwl:hasDbXref NCI:C34939 semapv:UnspecifiedMatching -DOID:4500 hypokalemia oboInOwl:hasDbXref UMLS_CUI:C1514284 semapv:UnspecifiedMatching +DOID:4500 hypokalemia oboInOwl:hasDbXref UMLS:C1514284 semapv:UnspecifiedMatching DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref MESH:D009958 semapv:UnspecifiedMatching -DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref UMLS_CUI:C0029294 semapv:UnspecifiedMatching +DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref UMLS:C0029294 semapv:UnspecifiedMatching DOID:4504 central nervous system angiosarcoma oboInOwl:hasDbXref NCI:C5450 semapv:UnspecifiedMatching -DOID:4504 central nervous system angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332875 semapv:UnspecifiedMatching +DOID:4504 central nervous system angiosarcoma oboInOwl:hasDbXref UMLS:C1332875 semapv:UnspecifiedMatching DOID:4505 childhood angiosarcoma oboInOwl:hasDbXref NCI:C9174 semapv:UnspecifiedMatching -DOID:4505 childhood angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279988 semapv:UnspecifiedMatching +DOID:4505 childhood angiosarcoma oboInOwl:hasDbXref UMLS:C0279988 semapv:UnspecifiedMatching DOID:4510 aorta angiosarcoma oboInOwl:hasDbXref NCI:C5376 semapv:UnspecifiedMatching -DOID:4510 aorta angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332312 semapv:UnspecifiedMatching +DOID:4510 aorta angiosarcoma oboInOwl:hasDbXref UMLS:C1332312 semapv:UnspecifiedMatching DOID:4511 breast angiosarcoma oboInOwl:hasDbXref MESH:C536368 semapv:UnspecifiedMatching DOID:4511 breast angiosarcoma oboInOwl:hasDbXref NCI:C5184 semapv:UnspecifiedMatching -DOID:4511 breast angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332614 semapv:UnspecifiedMatching +DOID:4511 breast angiosarcoma oboInOwl:hasDbXref UMLS:C1332614 semapv:UnspecifiedMatching DOID:4512 conventional angiosarcoma oboInOwl:hasDbXref NCI:C9426 semapv:UnspecifiedMatching -DOID:4512 conventional angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333155 semapv:UnspecifiedMatching +DOID:4512 conventional angiosarcoma oboInOwl:hasDbXref UMLS:C1333155 semapv:UnspecifiedMatching DOID:4513 gallbladder angiosarcoma oboInOwl:hasDbXref NCI:C5840 semapv:UnspecifiedMatching -DOID:4513 gallbladder angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333742 semapv:UnspecifiedMatching +DOID:4513 gallbladder angiosarcoma oboInOwl:hasDbXref UMLS:C1333742 semapv:UnspecifiedMatching DOID:4514 thyroid angiosarcoma oboInOwl:hasDbXref NCI:C6043 semapv:UnspecifiedMatching -DOID:4514 thyroid angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336748 semapv:UnspecifiedMatching +DOID:4514 thyroid angiosarcoma oboInOwl:hasDbXref UMLS:C1336748 semapv:UnspecifiedMatching DOID:4515 thyroid sarcoma oboInOwl:hasDbXref NCI:C6041 semapv:UnspecifiedMatching -DOID:4515 thyroid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336756 semapv:UnspecifiedMatching +DOID:4515 thyroid sarcoma oboInOwl:hasDbXref UMLS:C1336756 semapv:UnspecifiedMatching DOID:4517 skin angiosarcoma oboInOwl:hasDbXref NCI:C4489 semapv:UnspecifiedMatching -DOID:4517 skin angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346081 semapv:UnspecifiedMatching +DOID:4517 skin angiosarcoma oboInOwl:hasDbXref UMLS:C0346081 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref ICDO:8940/0 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref MESH:D008949 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref NCI:C35691 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching -DOID:452 pleomorphic adenoma oboInOwl:hasDbXref UMLS_CUI:C0026277 semapv:UnspecifiedMatching +DOID:452 pleomorphic adenoma oboInOwl:hasDbXref UMLS:C0026277 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma skos:exactMatch OMIM:181030 semapv:UnspecifiedMatching DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40220 semapv:UnspecifiedMatching -DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C3642326 semapv:UnspecifiedMatching +DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C3642326 semapv:UnspecifiedMatching DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref NCI:C40218 semapv:UnspecifiedMatching -DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref UMLS_CUI:C4289586 semapv:UnspecifiedMatching +DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref UMLS:C4289586 semapv:UnspecifiedMatching DOID:4522 superior vena cava angiosarcoma oboInOwl:hasDbXref NCI:C5378 semapv:UnspecifiedMatching -DOID:4522 superior vena cava angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336530 semapv:UnspecifiedMatching +DOID:4522 superior vena cava angiosarcoma oboInOwl:hasDbXref UMLS:C1336530 semapv:UnspecifiedMatching DOID:4524 prostate angiosarcoma oboInOwl:hasDbXref NCI:C5528 semapv:UnspecifiedMatching -DOID:4524 prostate angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335504 semapv:UnspecifiedMatching +DOID:4524 prostate angiosarcoma oboInOwl:hasDbXref UMLS:C1335504 semapv:UnspecifiedMatching DOID:4525 mediastinum angiosarcoma oboInOwl:hasDbXref NCI:C6613 semapv:UnspecifiedMatching -DOID:4525 mediastinum angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334649 semapv:UnspecifiedMatching +DOID:4525 mediastinum angiosarcoma oboInOwl:hasDbXref UMLS:C1334649 semapv:UnspecifiedMatching DOID:4527 ovarian angiosarcoma oboInOwl:hasDbXref NCI:C5232 semapv:UnspecifiedMatching -DOID:4527 ovarian angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335152 semapv:UnspecifiedMatching +DOID:4527 ovarian angiosarcoma oboInOwl:hasDbXref UMLS:C1335152 semapv:UnspecifiedMatching DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref GARD:10671 semapv:UnspecifiedMatching DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref ICDO:8430/3 semapv:UnspecifiedMatching DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref MESH:D018277 semapv:UnspecifiedMatching DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C3772 semapv:UnspecifiedMatching -DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206694 semapv:UnspecifiedMatching +DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C0206694 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref GARD:288 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref MESH:D006210 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref NCI:C84746 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref ORDO:2108 semapv:UnspecifiedMatching -DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS_CUI:C0018522 semapv:UnspecifiedMatching +DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS:C0018522 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome skos:exactMatch OMIM:234100 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref MESH:D007039 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref OMIMPS:605389 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref ORDO:55654 semapv:UnspecifiedMatching -DOID:4535 hypotrichosis oboInOwl:hasDbXref UMLS_CUI:C0020678 semapv:UnspecifiedMatching +DOID:4535 hypotrichosis oboInOwl:hasDbXref UMLS:C0020678 semapv:UnspecifiedMatching DOID:4535 hypotrichosis skos:exactMatch OMIMPS:605389 semapv:UnspecifiedMatching DOID:4540 dysgraphia oboInOwl:hasDbXref ICD10CM:R48.8 semapv:UnspecifiedMatching DOID:4540 dysgraphia oboInOwl:hasDbXref MESH:D000381 semapv:UnspecifiedMatching -DOID:4540 dysgraphia oboInOwl:hasDbXref UMLS_CUI:C0001825 semapv:UnspecifiedMatching +DOID:4540 dysgraphia oboInOwl:hasDbXref UMLS:C0001825 semapv:UnspecifiedMatching DOID:4541 nominal aphasia oboInOwl:hasDbXref MESH:D000849 semapv:UnspecifiedMatching DOID:4541 nominal aphasia oboInOwl:hasDbXref NCI:C34386 semapv:UnspecifiedMatching -DOID:4541 nominal aphasia oboInOwl:hasDbXref UMLS_CUI:C0003113 semapv:UnspecifiedMatching +DOID:4541 nominal aphasia oboInOwl:hasDbXref UMLS:C0003113 semapv:UnspecifiedMatching DOID:4542 basophil adenoma oboInOwl:hasDbXref ICDO:8300/0 semapv:UnspecifiedMatching DOID:4542 basophil adenoma oboInOwl:hasDbXref MESH:D000237 semapv:UnspecifiedMatching DOID:4542 basophil adenoma oboInOwl:hasDbXref NCI:C2856 semapv:UnspecifiedMatching -DOID:4542 basophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0001431 semapv:UnspecifiedMatching +DOID:4542 basophil adenoma oboInOwl:hasDbXref UMLS:C0001431 semapv:UnspecifiedMatching DOID:4543 retrograde amnesia oboInOwl:hasDbXref ICD10CM:R41.2 semapv:UnspecifiedMatching DOID:4543 retrograde amnesia oboInOwl:hasDbXref MESH:D000648 semapv:UnspecifiedMatching DOID:4543 retrograde amnesia oboInOwl:hasDbXref NCI:C34372 semapv:UnspecifiedMatching -DOID:4543 retrograde amnesia oboInOwl:hasDbXref UMLS_CUI:C0002624 semapv:UnspecifiedMatching +DOID:4543 retrograde amnesia oboInOwl:hasDbXref UMLS:C0002624 semapv:UnspecifiedMatching DOID:4545 mesenchymal chondrosarcoma oboInOwl:hasDbXref ICDO:9240/3 semapv:UnspecifiedMatching DOID:4545 mesenchymal chondrosarcoma oboInOwl:hasDbXref MESH:D018211 semapv:UnspecifiedMatching DOID:4545 mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C3737 semapv:UnspecifiedMatching -DOID:4545 mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206637 semapv:UnspecifiedMatching +DOID:4545 mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS:C0206637 semapv:UnspecifiedMatching DOID:4546 childhood mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C27374 semapv:UnspecifiedMatching -DOID:4546 childhood mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332982 semapv:UnspecifiedMatching +DOID:4546 childhood mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS:C1332982 semapv:UnspecifiedMatching DOID:4547 adult mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C27375 semapv:UnspecifiedMatching -DOID:4547 adult mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332207 semapv:UnspecifiedMatching +DOID:4547 adult mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS:C1332207 semapv:UnspecifiedMatching DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C27481 semapv:UnspecifiedMatching -DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1275279 semapv:UnspecifiedMatching +DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS:C1275279 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICDO:9231/3 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MESH:C563195 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C27502 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 semapv:UnspecifiedMatching -DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1275278 semapv:UnspecifiedMatching +DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1275278 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma skos:exactMatch OMIM:612237 semapv:UnspecifiedMatching DOID:4550 anal gland neoplasm oboInOwl:hasDbXref MESH:D000694 semapv:UnspecifiedMatching -DOID:4550 anal gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C0002757 semapv:UnspecifiedMatching +DOID:4550 anal gland neoplasm oboInOwl:hasDbXref UMLS:C0002757 semapv:UnspecifiedMatching DOID:4551 anus benign neoplasm oboInOwl:hasDbXref MESH:D001005 semapv:UnspecifiedMatching DOID:4551 anus benign neoplasm oboInOwl:hasDbXref NCI:C2877 semapv:UnspecifiedMatching -DOID:4551 anus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0003463 semapv:UnspecifiedMatching +DOID:4551 anus benign neoplasm oboInOwl:hasDbXref UMLS:C0003463 semapv:UnspecifiedMatching DOID:4552 large cell carcinoma oboInOwl:hasDbXref ICDO:8012/3 semapv:UnspecifiedMatching DOID:4552 large cell carcinoma oboInOwl:hasDbXref MESH:D018287 semapv:UnspecifiedMatching DOID:4552 large cell carcinoma oboInOwl:hasDbXref NCI:C3780 semapv:UnspecifiedMatching -DOID:4552 large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206704 semapv:UnspecifiedMatching +DOID:4552 large cell carcinoma oboInOwl:hasDbXref UMLS:C0206704 semapv:UnspecifiedMatching DOID:4553 thymus large cell carcinoma oboInOwl:hasDbXref NCI:C6461 semapv:UnspecifiedMatching -DOID:4553 thymus large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334364 semapv:UnspecifiedMatching +DOID:4553 thymus large cell carcinoma oboInOwl:hasDbXref UMLS:C1334364 semapv:UnspecifiedMatching DOID:4554 type C thymoma oboInOwl:hasDbXref NCI:C7612 semapv:UnspecifiedMatching -DOID:4554 type C thymoma oboInOwl:hasDbXref UMLS_CUI:C1322286 semapv:UnspecifiedMatching +DOID:4554 type C thymoma oboInOwl:hasDbXref UMLS:C1322286 semapv:UnspecifiedMatching DOID:4555 ovarian large-cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C5238 semapv:UnspecifiedMatching -DOID:4555 ovarian large-cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335174 semapv:UnspecifiedMatching +DOID:4555 ovarian large-cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1335174 semapv:UnspecifiedMatching DOID:4556 lung large cell carcinoma oboInOwl:hasDbXref NCI:C4450 semapv:UnspecifiedMatching -DOID:4556 lung large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345958 semapv:UnspecifiedMatching +DOID:4556 lung large cell carcinoma oboInOwl:hasDbXref UMLS:C0345958 semapv:UnspecifiedMatching DOID:4557 oral leukoedema oboInOwl:hasDbXref MESH:D007967 semapv:UnspecifiedMatching -DOID:4557 oral leukoedema oboInOwl:hasDbXref UMLS_CUI:C0023523 semapv:UnspecifiedMatching +DOID:4557 oral leukoedema oboInOwl:hasDbXref UMLS:C0023523 semapv:UnspecifiedMatching DOID:4558 Ludwig's angina oboInOwl:hasDbXref MESH:D008158 semapv:UnspecifiedMatching -DOID:4558 Ludwig's angina oboInOwl:hasDbXref UMLS_CUI:C0024081 semapv:UnspecifiedMatching +DOID:4558 Ludwig's angina oboInOwl:hasDbXref UMLS:C0024081 semapv:UnspecifiedMatching DOID:456 ascariasis oboInOwl:hasDbXref ICD10CM:B77 semapv:UnspecifiedMatching DOID:456 ascariasis oboInOwl:hasDbXref ICD9CM:127.0 semapv:UnspecifiedMatching DOID:456 ascariasis oboInOwl:hasDbXref MESH:D001196 semapv:UnspecifiedMatching DOID:456 ascariasis oboInOwl:hasDbXref NCI:C128392 semapv:UnspecifiedMatching -DOID:456 ascariasis oboInOwl:hasDbXref UMLS_CUI:C0003950 semapv:UnspecifiedMatching +DOID:456 ascariasis oboInOwl:hasDbXref UMLS:C0003950 semapv:UnspecifiedMatching DOID:4560 non specific chronic endometritis oboInOwl:hasDbXref NCI:C27625 semapv:UnspecifiedMatching -DOID:4560 non specific chronic endometritis oboInOwl:hasDbXref UMLS_CUI:C1335061 semapv:UnspecifiedMatching +DOID:4560 non specific chronic endometritis oboInOwl:hasDbXref UMLS:C1335061 semapv:UnspecifiedMatching DOID:4561 granulomatous endometritis oboInOwl:hasDbXref NCI:C27626 semapv:UnspecifiedMatching -DOID:4561 granulomatous endometritis oboInOwl:hasDbXref UMLS_CUI:C1333876 semapv:UnspecifiedMatching +DOID:4561 granulomatous endometritis oboInOwl:hasDbXref UMLS:C1333876 semapv:UnspecifiedMatching DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref MESH:D004698 semapv:UnspecifiedMatching DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref NCI:C34583 semapv:UnspecifiedMatching -DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref UMLS_CUI:C0014122 semapv:UnspecifiedMatching +DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref UMLS:C0014122 semapv:UnspecifiedMatching DOID:4584 choroid plexus meningioma oboInOwl:hasDbXref NCI:C4719 semapv:UnspecifiedMatching -DOID:4584 choroid plexus meningioma oboInOwl:hasDbXref UMLS_CUI:C0431118 semapv:UnspecifiedMatching +DOID:4584 choroid plexus meningioma oboInOwl:hasDbXref UMLS:C0431118 semapv:UnspecifiedMatching DOID:4586 familial meningioma oboInOwl:hasDbXref MESH:C537443 semapv:UnspecifiedMatching DOID:4586 familial meningioma oboInOwl:hasDbXref NCI:C5301 semapv:UnspecifiedMatching -DOID:4586 familial meningioma oboInOwl:hasDbXref UMLS_CUI:C1333989 semapv:UnspecifiedMatching +DOID:4586 familial meningioma oboInOwl:hasDbXref UMLS:C1333989 semapv:UnspecifiedMatching DOID:4587 benign meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4587 benign meningioma oboInOwl:hasDbXref NCI:C4055 semapv:UnspecifiedMatching -DOID:4587 benign meningioma oboInOwl:hasDbXref UMLS_CUI:C0281784 semapv:UnspecifiedMatching +DOID:4587 benign meningioma oboInOwl:hasDbXref UMLS:C0281784 semapv:UnspecifiedMatching DOID:4588 secretory meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4588 secretory meningioma oboInOwl:hasDbXref NCI:C4718 semapv:UnspecifiedMatching -DOID:4588 secretory meningioma oboInOwl:hasDbXref UMLS_CUI:C1384406 semapv:UnspecifiedMatching +DOID:4588 secretory meningioma oboInOwl:hasDbXref UMLS:C1384406 semapv:UnspecifiedMatching DOID:4591 lymphoplasmacyte-rich meningioma oboInOwl:hasDbXref NCI:C4720 semapv:UnspecifiedMatching -DOID:4591 lymphoplasmacyte-rich meningioma oboInOwl:hasDbXref UMLS_CUI:C0431119 semapv:UnspecifiedMatching +DOID:4591 lymphoplasmacyte-rich meningioma oboInOwl:hasDbXref UMLS:C0431119 semapv:UnspecifiedMatching DOID:4593 childhood meningioma oboInOwl:hasDbXref NCI:C8264 semapv:UnspecifiedMatching -DOID:4593 childhood meningioma oboInOwl:hasDbXref UMLS_CUI:C0280656 semapv:UnspecifiedMatching +DOID:4593 childhood meningioma oboInOwl:hasDbXref UMLS:C0280656 semapv:UnspecifiedMatching DOID:4594 microcystic meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4594 microcystic meningioma oboInOwl:hasDbXref NCI:C4721 semapv:UnspecifiedMatching -DOID:4594 microcystic meningioma oboInOwl:hasDbXref UMLS_CUI:C1384408 semapv:UnspecifiedMatching +DOID:4594 microcystic meningioma oboInOwl:hasDbXref UMLS:C1384408 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref ICD10CM:Q80.3 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref MESH:D017488 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref NCI:C62569 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref OMIMPS:113800 semapv:UnspecifiedMatching -DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref UMLS_CUI:C0079153 semapv:UnspecifiedMatching +DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref UMLS:C0079153 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis skos:exactMatch OMIMPS:113800 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref ICD10CM:C24.0 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref ICD9CM:156.1 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref NCI:C2898 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref NCI:C7483 semapv:UnspecifiedMatching -DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS_CUI:C0005396 semapv:UnspecifiedMatching -DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS_CUI:C0153453 semapv:UnspecifiedMatching +DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS:C0005396 semapv:UnspecifiedMatching +DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS:C0153453 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref GARD:5924 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref GARD:9304 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref ICD10CM:C24.9 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref ICD9CM:156.9 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref MESH:D001661 semapv:UnspecifiedMatching -DOID:4607 biliary tract cancer oboInOwl:hasDbXref UMLS_CUI:C0005426 semapv:UnspecifiedMatching -DOID:4607 biliary tract cancer oboInOwl:hasDbXref UMLS_CUI:C0750952 semapv:UnspecifiedMatching +DOID:4607 biliary tract cancer oboInOwl:hasDbXref UMLS:C0005426 semapv:UnspecifiedMatching +DOID:4607 biliary tract cancer oboInOwl:hasDbXref UMLS:C0750952 semapv:UnspecifiedMatching DOID:4608 common bile duct neoplasm oboInOwl:hasDbXref MESH:D003138 semapv:UnspecifiedMatching -DOID:4608 common bile duct neoplasm oboInOwl:hasDbXref UMLS_CUI:C0009442 semapv:UnspecifiedMatching +DOID:4608 common bile duct neoplasm oboInOwl:hasDbXref UMLS:C0009442 semapv:UnspecifiedMatching DOID:461 muscle benign neoplasm oboInOwl:hasDbXref MESH:D009379 semapv:UnspecifiedMatching DOID:461 muscle benign neoplasm oboInOwl:hasDbXref MESH:D019042 semapv:UnspecifiedMatching DOID:461 muscle benign neoplasm oboInOwl:hasDbXref NCI:C4063 semapv:UnspecifiedMatching -DOID:461 muscle benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0027664 semapv:UnspecifiedMatching -DOID:461 muscle benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0282606 semapv:UnspecifiedMatching +DOID:461 muscle benign neoplasm oboInOwl:hasDbXref UMLS:C0027664 semapv:UnspecifiedMatching +DOID:461 muscle benign neoplasm oboInOwl:hasDbXref UMLS:C0282606 semapv:UnspecifiedMatching DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref MESH:D007414 semapv:UnspecifiedMatching DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref NCI:C3141 semapv:UnspecifiedMatching -DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0021841 semapv:UnspecifiedMatching +DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref UMLS:C0021841 semapv:UnspecifiedMatching DOID:4613 ulnar neuropathy oboInOwl:hasDbXref MESH:D020424 semapv:UnspecifiedMatching -DOID:4613 ulnar neuropathy oboInOwl:hasDbXref UMLS_CUI:C0154743 semapv:UnspecifiedMatching +DOID:4613 ulnar neuropathy oboInOwl:hasDbXref UMLS:C0154743 semapv:UnspecifiedMatching DOID:4617 periapical granuloma oboInOwl:hasDbXref MESH:D010484 semapv:UnspecifiedMatching -DOID:4617 periapical granuloma oboInOwl:hasDbXref UMLS_CUI:C0031029 semapv:UnspecifiedMatching +DOID:4617 periapical granuloma oboInOwl:hasDbXref UMLS:C0031029 semapv:UnspecifiedMatching DOID:4618 maxillary cancer oboInOwl:hasDbXref MESH:D008441 semapv:UnspecifiedMatching -DOID:4618 maxillary cancer oboInOwl:hasDbXref UMLS_CUI:C0024954 semapv:UnspecifiedMatching +DOID:4618 maxillary cancer oboInOwl:hasDbXref UMLS:C0024954 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref GARD:6665 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref ICD10CM:Q04.2 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref NCI:C74988 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref OMIMPS:236100 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref ORDO:2162 semapv:UnspecifiedMatching -DOID:4621 holoprosencephaly oboInOwl:hasDbXref UMLS_CUI:C0079541 semapv:UnspecifiedMatching +DOID:4621 holoprosencephaly oboInOwl:hasDbXref UMLS:C0079541 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly skos:exactMatch OMIMPS:236100 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref GARD:7251 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching @@ -30309,28 +30622,28 @@ DOID:4624 Ollier disease oboInOwl:hasDbXref MESH:D004687 semapv:UnspecifiedMatch DOID:4624 Ollier disease oboInOwl:hasDbXref NCI:C3213 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref OMIM:166000 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref ORDO:296 semapv:UnspecifiedMatching -DOID:4624 Ollier disease oboInOwl:hasDbXref UMLS_CUI:C0024454 semapv:UnspecifiedMatching +DOID:4624 Ollier disease oboInOwl:hasDbXref UMLS:C0024454 semapv:UnspecifiedMatching DOID:4624 Ollier disease skos:exactMatch OMIM:166000 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref GARD:6681 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref MESH:D006832 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref NCI:C98949 semapv:UnspecifiedMatching -DOID:4626 hydranencephaly oboInOwl:hasDbXref UMLS_CUI:C0020225 semapv:UnspecifiedMatching +DOID:4626 hydranencephaly oboInOwl:hasDbXref UMLS:C0020225 semapv:UnspecifiedMatching DOID:4627 ideomotor apraxia oboInOwl:hasDbXref MESH:D020240 semapv:UnspecifiedMatching -DOID:4627 ideomotor apraxia oboInOwl:hasDbXref UMLS_CUI:C0234523 semapv:UnspecifiedMatching -DOID:4630 inverted transitional papilloma oboInOwl:hasDbXref UMLS_CUI:C0334269 semapv:UnspecifiedMatching +DOID:4627 ideomotor apraxia oboInOwl:hasDbXref UMLS:C0234523 semapv:UnspecifiedMatching +DOID:4630 inverted transitional papilloma oboInOwl:hasDbXref UMLS:C0334269 semapv:UnspecifiedMatching DOID:4633 nasal cavity inverting papilloma oboInOwl:hasDbXref NCI:C8194 semapv:UnspecifiedMatching -DOID:4633 nasal cavity inverting papilloma oboInOwl:hasDbXref UMLS_CUI:C0280336 semapv:UnspecifiedMatching +DOID:4633 nasal cavity inverting papilloma oboInOwl:hasDbXref UMLS:C0280336 semapv:UnspecifiedMatching DOID:4636 submandibular adenitis oboInOwl:hasDbXref NCI:C27016 semapv:UnspecifiedMatching -DOID:4636 submandibular adenitis oboInOwl:hasDbXref UMLS_CUI:C0235591 semapv:UnspecifiedMatching +DOID:4636 submandibular adenitis oboInOwl:hasDbXref UMLS:C0235591 semapv:UnspecifiedMatching DOID:4637 cervical adenitis oboInOwl:hasDbXref NCI:C26937 semapv:UnspecifiedMatching -DOID:4637 cervical adenitis oboInOwl:hasDbXref UMLS_CUI:C0149642 semapv:UnspecifiedMatching +DOID:4637 cervical adenitis oboInOwl:hasDbXref UMLS:C0149642 semapv:UnspecifiedMatching DOID:4638 postauricular lymphadenitis oboInOwl:hasDbXref NCI:C27332 semapv:UnspecifiedMatching -DOID:4638 postauricular lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0919638 semapv:UnspecifiedMatching +DOID:4638 postauricular lymphadenitis oboInOwl:hasDbXref UMLS:C0919638 semapv:UnspecifiedMatching DOID:4639 suppurative lymphadenitis oboInOwl:hasDbXref NCI:C27135 semapv:UnspecifiedMatching -DOID:4639 suppurative lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0392051 semapv:UnspecifiedMatching +DOID:4639 suppurative lymphadenitis oboInOwl:hasDbXref UMLS:C0392051 semapv:UnspecifiedMatching DOID:4640 axillary adenitis oboInOwl:hasDbXref NCI:C27333 semapv:UnspecifiedMatching -DOID:4640 axillary adenitis oboInOwl:hasDbXref UMLS_CUI:C0919797 semapv:UnspecifiedMatching +DOID:4640 axillary adenitis oboInOwl:hasDbXref UMLS:C0919797 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref GARD:10752 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref MESH:D016110 semapv:UnspecifiedMatching @@ -30338,50 +30651,50 @@ DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref NCI:C84692 semapv:Uns DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:615425 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref ORDO:304 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS_CUI:C0079298 semapv:UnspecifiedMatching +DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0079298 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref ICD10CM:C69.2 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref ICD9CM:190.5 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref MESH:D019572 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref NCI:C3216 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref NCI:C4800 semapv:UnspecifiedMatching -DOID:4645 retinal cancer oboInOwl:hasDbXref UMLS_CUI:C0024622 semapv:UnspecifiedMatching -DOID:4645 retinal cancer oboInOwl:hasDbXref UMLS_CUI:C0524801 semapv:UnspecifiedMatching +DOID:4645 retinal cancer oboInOwl:hasDbXref UMLS:C0024622 semapv:UnspecifiedMatching +DOID:4645 retinal cancer oboInOwl:hasDbXref UMLS:C0524801 semapv:UnspecifiedMatching DOID:4648 familial retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching DOID:4648 familial retinoblastoma oboInOwl:hasDbXref NCI:C8495 semapv:UnspecifiedMatching -DOID:4648 familial retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0751483 semapv:UnspecifiedMatching +DOID:4648 familial retinoblastoma oboInOwl:hasDbXref UMLS:C0751483 semapv:UnspecifiedMatching DOID:4650 bilateral retinoblastoma oboInOwl:hasDbXref NCI:C8713 semapv:UnspecifiedMatching -DOID:4650 bilateral retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0854914 semapv:UnspecifiedMatching +DOID:4650 bilateral retinoblastoma oboInOwl:hasDbXref UMLS:C0854914 semapv:UnspecifiedMatching DOID:4651 unilateral retinoblastoma oboInOwl:hasDbXref NCI:C8714 semapv:UnspecifiedMatching -DOID:4651 unilateral retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0854915 semapv:UnspecifiedMatching +DOID:4651 unilateral retinoblastoma oboInOwl:hasDbXref UMLS:C0854915 semapv:UnspecifiedMatching DOID:4653 intraocular retinoblastoma oboInOwl:hasDbXref NCI:C7846 semapv:UnspecifiedMatching -DOID:4653 intraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0278717 semapv:UnspecifiedMatching +DOID:4653 intraocular retinoblastoma oboInOwl:hasDbXref UMLS:C0278717 semapv:UnspecifiedMatching DOID:4656 extraocular retinoblastoma oboInOwl:hasDbXref NCI:C7848 semapv:UnspecifiedMatching -DOID:4656 extraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0278719 semapv:UnspecifiedMatching +DOID:4656 extraocular retinoblastoma oboInOwl:hasDbXref UMLS:C0278719 semapv:UnspecifiedMatching DOID:4658 benign mastocytoma oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching DOID:4658 benign mastocytoma oboInOwl:hasDbXref NCI:C9303 semapv:UnspecifiedMatching -DOID:4658 benign mastocytoma oboInOwl:hasDbXref UMLS_CUI:C0024897 semapv:UnspecifiedMatching +DOID:4658 benign mastocytoma oboInOwl:hasDbXref UMLS:C0024897 semapv:UnspecifiedMatching DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref MESH:D034801 semapv:UnspecifiedMatching DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref NCI:C7136 semapv:UnspecifiedMatching -DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref UMLS_CUI:C0272202 semapv:UnspecifiedMatching +DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0272202 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref ICD10CM:D47.02 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref ICDO:9741/1 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref NCI:C9286 semapv:UnspecifiedMatching -DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0272203 semapv:UnspecifiedMatching +DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref UMLS:C0272203 semapv:UnspecifiedMatching DOID:4661 multiple chemical sensitivity oboInOwl:hasDbXref MESH:D018777 semapv:UnspecifiedMatching -DOID:4661 multiple chemical sensitivity oboInOwl:hasDbXref UMLS_CUI:C0242992 semapv:UnspecifiedMatching +DOID:4661 multiple chemical sensitivity oboInOwl:hasDbXref UMLS:C0242992 semapv:UnspecifiedMatching DOID:4662 thalamic disease oboInOwl:hasDbXref MESH:D013786 semapv:UnspecifiedMatching DOID:4662 thalamic disease oboInOwl:hasDbXref NCI:C85186 semapv:UnspecifiedMatching -DOID:4662 thalamic disease oboInOwl:hasDbXref UMLS_CUI:C0039726 semapv:UnspecifiedMatching +DOID:4662 thalamic disease oboInOwl:hasDbXref UMLS:C0039726 semapv:UnspecifiedMatching DOID:4664 filamentary keratitis oboInOwl:hasDbXref ICD10CM:H16.12 semapv:UnspecifiedMatching DOID:4664 filamentary keratitis oboInOwl:hasDbXref ICD9CM:370.23 semapv:UnspecifiedMatching -DOID:4664 filamentary keratitis oboInOwl:hasDbXref UMLS_CUI:C0155077 semapv:UnspecifiedMatching +DOID:4664 filamentary keratitis oboInOwl:hasDbXref UMLS:C0155077 semapv:UnspecifiedMatching DOID:467 venous hemangioma oboInOwl:hasDbXref ICDO:9122/0 semapv:UnspecifiedMatching DOID:467 venous hemangioma oboInOwl:hasDbXref NCI:C4296 semapv:UnspecifiedMatching -DOID:467 venous hemangioma oboInOwl:hasDbXref UMLS_CUI:C0334532 semapv:UnspecifiedMatching +DOID:467 venous hemangioma oboInOwl:hasDbXref UMLS:C0334532 semapv:UnspecifiedMatching DOID:4671 freemartinism oboInOwl:hasDbXref MESH:D005611 semapv:UnspecifiedMatching -DOID:4671 freemartinism oboInOwl:hasDbXref UMLS_CUI:C0016697 semapv:UnspecifiedMatching +DOID:4671 freemartinism oboInOwl:hasDbXref UMLS:C0016697 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref GARD:5803 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref ICD10CM:E34.5 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref ICD9CM:259.51 semapv:UnspecifiedMatching @@ -30389,524 +30702,524 @@ DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref NCI:C27226 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:300068 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:754 semapv:UnspecifiedMatching -DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref UMLS_CUI:C0039585 semapv:UnspecifiedMatching +DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0039585 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome skos:exactMatch OMIM:300068 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome skos:narrowMatch MESH:D013734 semapv:UnspecifiedMatching DOID:4675 uremic neuropathy oboInOwl:hasDbXref NCI:C27055 semapv:UnspecifiedMatching -DOID:4675 uremic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0268708 semapv:UnspecifiedMatching +DOID:4675 uremic neuropathy oboInOwl:hasDbXref UMLS:C0268708 semapv:UnspecifiedMatching DOID:4676 uremia oboInOwl:hasDbXref ICD10CM:N19 semapv:UnspecifiedMatching DOID:4676 uremia oboInOwl:hasDbXref MESH:D014511 semapv:UnspecifiedMatching -DOID:4676 uremia oboInOwl:hasDbXref UMLS_CUI:C0041948 semapv:UnspecifiedMatching +DOID:4676 uremia oboInOwl:hasDbXref UMLS:C0041948 semapv:UnspecifiedMatching DOID:4677 keratitis oboInOwl:hasDbXref ICD10CM:H16 semapv:UnspecifiedMatching DOID:4677 keratitis oboInOwl:hasDbXref ICD9CM:370 semapv:UnspecifiedMatching DOID:4677 keratitis oboInOwl:hasDbXref MESH:D007634 semapv:UnspecifiedMatching DOID:4677 keratitis oboInOwl:hasDbXref NCI:C26805 semapv:UnspecifiedMatching -DOID:4677 keratitis oboInOwl:hasDbXref UMLS_CUI:C0022568 semapv:UnspecifiedMatching +DOID:4677 keratitis oboInOwl:hasDbXref UMLS:C0022568 semapv:UnspecifiedMatching DOID:4678 thymus mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C6457 semapv:UnspecifiedMatching -DOID:4678 thymus mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334814 semapv:UnspecifiedMatching +DOID:4678 thymus mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C1334814 semapv:UnspecifiedMatching DOID:4679 breast mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C5166 semapv:UnspecifiedMatching -DOID:4679 breast mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334813 semapv:UnspecifiedMatching +DOID:4679 breast mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C1334813 semapv:UnspecifiedMatching DOID:468 intramuscular hemangioma oboInOwl:hasDbXref ICDO:9132/0 semapv:UnspecifiedMatching DOID:468 intramuscular hemangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:468 intramuscular hemangioma oboInOwl:hasDbXref NCI:C3699 semapv:UnspecifiedMatching -DOID:468 intramuscular hemangioma oboInOwl:hasDbXref UMLS_CUI:C0205789 semapv:UnspecifiedMatching +DOID:468 intramuscular hemangioma oboInOwl:hasDbXref UMLS:C0205789 semapv:UnspecifiedMatching DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref GARD:10804 semapv:UnspecifiedMatching DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref ICDO:8575/3 semapv:UnspecifiedMatching DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref NCI:C5164 semapv:UnspecifiedMatching -DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334708 semapv:UnspecifiedMatching +DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref UMLS:C1334708 semapv:UnspecifiedMatching DOID:4681 bile duct mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C5862 semapv:UnspecifiedMatching -DOID:4681 bile duct mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332552 semapv:UnspecifiedMatching +DOID:4681 bile duct mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C1332552 semapv:UnspecifiedMatching DOID:4682 extrahepatic bile duct carcinoma oboInOwl:hasDbXref NCI:C3860 semapv:UnspecifiedMatching -DOID:4682 extrahepatic bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238019 semapv:UnspecifiedMatching +DOID:4682 extrahepatic bile duct carcinoma oboInOwl:hasDbXref UMLS:C0238019 semapv:UnspecifiedMatching DOID:4683 cutaneous mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C4472 semapv:UnspecifiedMatching -DOID:4683 cutaneous mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346019 semapv:UnspecifiedMatching +DOID:4683 cutaneous mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C0346019 semapv:UnspecifiedMatching DOID:4685 lacrimal gland mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C6091 semapv:UnspecifiedMatching -DOID:4685 lacrimal gland mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334359 semapv:UnspecifiedMatching +DOID:4685 lacrimal gland mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C1334359 semapv:UnspecifiedMatching DOID:4686 mucoepidermoid esophageal carcinoma oboInOwl:hasDbXref NCI:C5343 semapv:UnspecifiedMatching -DOID:4686 mucoepidermoid esophageal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333461 semapv:UnspecifiedMatching +DOID:4686 mucoepidermoid esophageal carcinoma oboInOwl:hasDbXref UMLS:C1333461 semapv:UnspecifiedMatching DOID:4687 thyroid gland mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C38762 semapv:UnspecifiedMatching -DOID:4687 thyroid gland mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513721 semapv:UnspecifiedMatching +DOID:4687 thyroid gland mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C1513721 semapv:UnspecifiedMatching DOID:4688 laryngeal mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C9463 semapv:UnspecifiedMatching -DOID:4688 laryngeal mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334373 semapv:UnspecifiedMatching +DOID:4688 laryngeal mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C1334373 semapv:UnspecifiedMatching DOID:469 deep angioma oboInOwl:hasDbXref NCI:C6555 semapv:UnspecifiedMatching -DOID:469 deep angioma oboInOwl:hasDbXref UMLS_CUI:C1333265 semapv:UnspecifiedMatching +DOID:469 deep angioma oboInOwl:hasDbXref UMLS:C1333265 semapv:UnspecifiedMatching DOID:4690 childhood mediastinal neurogenic tumor oboInOwl:hasDbXref NCI:C5429 semapv:UnspecifiedMatching -DOID:4690 childhood mediastinal neurogenic tumor oboInOwl:hasDbXref UMLS_CUI:C1332981 semapv:UnspecifiedMatching +DOID:4690 childhood mediastinal neurogenic tumor oboInOwl:hasDbXref UMLS:C1332981 semapv:UnspecifiedMatching DOID:4691 malignant mediastinal neurogenic neoplasm oboInOwl:hasDbXref NCI:C6624 semapv:UnspecifiedMatching -DOID:4691 malignant mediastinal neurogenic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334672 semapv:UnspecifiedMatching +DOID:4691 malignant mediastinal neurogenic neoplasm oboInOwl:hasDbXref UMLS:C1334672 semapv:UnspecifiedMatching DOID:4692 endophthalmitis oboInOwl:hasDbXref MESH:D009877 semapv:UnspecifiedMatching DOID:4692 endophthalmitis oboInOwl:hasDbXref NCI:C34586 semapv:UnspecifiedMatching -DOID:4692 endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0014236 semapv:UnspecifiedMatching +DOID:4692 endophthalmitis oboInOwl:hasDbXref UMLS:C0014236 semapv:UnspecifiedMatching DOID:4693 nerve plexus neoplasm oboInOwl:hasDbXref NCI:C5822 semapv:UnspecifiedMatching -DOID:4693 nerve plexus neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334945 semapv:UnspecifiedMatching +DOID:4693 nerve plexus neoplasm oboInOwl:hasDbXref UMLS:C1334945 semapv:UnspecifiedMatching DOID:4696 intraneural perineurioma oboInOwl:hasDbXref GARD:10921 semapv:UnspecifiedMatching DOID:4696 intraneural perineurioma oboInOwl:hasDbXref NCI:C6911 semapv:UnspecifiedMatching -DOID:4696 intraneural perineurioma oboInOwl:hasDbXref UMLS_CUI:C1370658 semapv:UnspecifiedMatching +DOID:4696 intraneural perineurioma oboInOwl:hasDbXref UMLS:C1370658 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref GARD:12698 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref ICDO:9571/0 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref NCI:C4973 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref NCI:C6912 semapv:UnspecifiedMatching -DOID:4697 perineurioma oboInOwl:hasDbXref UMLS_CUI:C0751691 semapv:UnspecifiedMatching -DOID:4697 perineurioma oboInOwl:hasDbXref UMLS_CUI:C1370657 semapv:UnspecifiedMatching +DOID:4697 perineurioma oboInOwl:hasDbXref UMLS:C0751691 semapv:UnspecifiedMatching +DOID:4697 perineurioma oboInOwl:hasDbXref UMLS:C1370657 semapv:UnspecifiedMatching DOID:4698 nerve root neoplasm oboInOwl:hasDbXref NCI:C5119 semapv:UnspecifiedMatching -DOID:4698 nerve root neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334946 semapv:UnspecifiedMatching +DOID:4698 nerve root neoplasm oboInOwl:hasDbXref UMLS:C1334946 semapv:UnspecifiedMatching DOID:4699 epicardium cancer oboInOwl:hasDbXref NCI:C5347 semapv:UnspecifiedMatching -DOID:4699 epicardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346610 semapv:UnspecifiedMatching -DOID:4699 epicardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290403 semapv:UnspecifiedMatching +DOID:4699 epicardium cancer oboInOwl:hasDbXref UMLS:C0346610 semapv:UnspecifiedMatching +DOID:4699 epicardium cancer oboInOwl:hasDbXref UMLS:C1290403 semapv:UnspecifiedMatching DOID:47 prostate disease oboInOwl:hasDbXref ICD10CM:N42.9 semapv:UnspecifiedMatching DOID:47 prostate disease oboInOwl:hasDbXref ICD9CM:602.9 semapv:UnspecifiedMatching DOID:47 prostate disease oboInOwl:hasDbXref MESH:D011469 semapv:UnspecifiedMatching DOID:47 prostate disease oboInOwl:hasDbXref NCI:C26865 semapv:UnspecifiedMatching -DOID:47 prostate disease oboInOwl:hasDbXref UMLS_CUI:C0033575 semapv:UnspecifiedMatching +DOID:47 prostate disease oboInOwl:hasDbXref UMLS:C0033575 semapv:UnspecifiedMatching DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref ICDO:9142/0 semapv:UnspecifiedMatching DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref NCI:C4299 semapv:UnspecifiedMatching -DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref UMLS_CUI:C0334540 semapv:UnspecifiedMatching +DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref UMLS:C0334540 semapv:UnspecifiedMatching DOID:4702 mongolian spot oboInOwl:hasDbXref MESH:D049328 semapv:UnspecifiedMatching DOID:4702 mongolian spot oboInOwl:hasDbXref NCI:C3945 semapv:UnspecifiedMatching -DOID:4702 mongolian spot oboInOwl:hasDbXref UMLS_CUI:C0265985 semapv:UnspecifiedMatching +DOID:4702 mongolian spot oboInOwl:hasDbXref UMLS:C0265985 semapv:UnspecifiedMatching DOID:4706 infratentorial cancer oboInOwl:hasDbXref ICD10CM:C71.7 semapv:UnspecifiedMatching DOID:4706 infratentorial cancer oboInOwl:hasDbXref MESH:D015192 semapv:UnspecifiedMatching DOID:4706 infratentorial cancer oboInOwl:hasDbXref NCI:C3139 semapv:UnspecifiedMatching DOID:4706 infratentorial cancer oboInOwl:hasDbXref NCI:C4966 semapv:UnspecifiedMatching -DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0021432 semapv:UnspecifiedMatching -DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0751593 semapv:UnspecifiedMatching +DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS:C0021432 semapv:UnspecifiedMatching +DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS:C0751593 semapv:UnspecifiedMatching DOID:4707 cervicomedullary junction neoplasm oboInOwl:hasDbXref NCI:C5423 semapv:UnspecifiedMatching -DOID:4707 cervicomedullary junction neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332923 semapv:UnspecifiedMatching +DOID:4707 cervicomedullary junction neoplasm oboInOwl:hasDbXref UMLS:C1332923 semapv:UnspecifiedMatching DOID:4708 foramen magnum meningioma oboInOwl:hasDbXref NCI:C5280 semapv:UnspecifiedMatching -DOID:4708 foramen magnum meningioma oboInOwl:hasDbXref UMLS_CUI:C1333630 semapv:UnspecifiedMatching +DOID:4708 foramen magnum meningioma oboInOwl:hasDbXref UMLS:C1333630 semapv:UnspecifiedMatching DOID:471 skin hemangioma oboInOwl:hasDbXref NCI:C4905 semapv:UnspecifiedMatching -DOID:471 skin hemangioma oboInOwl:hasDbXref UMLS_CUI:C0687140 semapv:UnspecifiedMatching +DOID:471 skin hemangioma oboInOwl:hasDbXref UMLS:C0687140 semapv:UnspecifiedMatching DOID:4715 gastric neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5696 semapv:UnspecifiedMatching -DOID:4715 gastric neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333783 semapv:UnspecifiedMatching +DOID:4715 gastric neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1333783 semapv:UnspecifiedMatching DOID:4716 malignant gastric germ cell tumor oboInOwl:hasDbXref NCI:C6448 semapv:UnspecifiedMatching -DOID:4716 malignant gastric germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1333769 semapv:UnspecifiedMatching +DOID:4716 malignant gastric germ cell tumor oboInOwl:hasDbXref UMLS:C1333769 semapv:UnspecifiedMatching DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref NCI:C3918 semapv:UnspecifiedMatching DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref NCI:C8881 semapv:UnspecifiedMatching -DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0262963 semapv:UnspecifiedMatching -DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334581 semapv:UnspecifiedMatching +DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS:C0262963 semapv:UnspecifiedMatching +DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS:C1334581 semapv:UnspecifiedMatching DOID:4719 bone giant cell sarcoma oboInOwl:hasDbXref NCI:C4304 semapv:UnspecifiedMatching -DOID:4719 bone giant cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334552 semapv:UnspecifiedMatching +DOID:4719 bone giant cell sarcoma oboInOwl:hasDbXref UMLS:C0334552 semapv:UnspecifiedMatching DOID:472 subglottic angioma oboInOwl:hasDbXref NCI:C6026 semapv:UnspecifiedMatching -DOID:472 subglottic angioma oboInOwl:hasDbXref UMLS_CUI:C1336518 semapv:UnspecifiedMatching +DOID:472 subglottic angioma oboInOwl:hasDbXref UMLS:C1336518 semapv:UnspecifiedMatching DOID:4723 intracranial hypotension oboInOwl:hasDbXref ICD10CM:G96.81 semapv:UnspecifiedMatching DOID:4723 intracranial hypotension oboInOwl:hasDbXref MESH:D019585 semapv:UnspecifiedMatching -DOID:4723 intracranial hypotension oboInOwl:hasDbXref UMLS_CUI:C0524812 semapv:UnspecifiedMatching +DOID:4723 intracranial hypotension oboInOwl:hasDbXref UMLS:C0524812 semapv:UnspecifiedMatching DOID:4724 brain edema oboInOwl:hasDbXref MESH:D001929 semapv:UnspecifiedMatching -DOID:4724 brain edema oboInOwl:hasDbXref UMLS_CUI:C1527311 semapv:UnspecifiedMatching +DOID:4724 brain edema oboInOwl:hasDbXref UMLS:C1527311 semapv:UnspecifiedMatching DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref ICD10CM:J30.0 semapv:UnspecifiedMatching DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref MESH:D012223 semapv:UnspecifiedMatching DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref NCI:C34988 semapv:UnspecifiedMatching -DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref UMLS_CUI:C0035460 semapv:UnspecifiedMatching +DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref UMLS:C0035460 semapv:UnspecifiedMatching DOID:4731 atrophic rhinitis oboInOwl:hasDbXref MESH:D012222 semapv:UnspecifiedMatching -DOID:4731 atrophic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0035459 semapv:UnspecifiedMatching +DOID:4731 atrophic rhinitis oboInOwl:hasDbXref UMLS:C0035459 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref GARD:5980 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref MESH:D002115 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref NCI:C84607 semapv:UnspecifiedMatching -DOID:4734 calciphylaxis oboInOwl:hasDbXref UMLS_CUI:C0006666 semapv:UnspecifiedMatching +DOID:4734 calciphylaxis oboInOwl:hasDbXref UMLS:C0006666 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD10CM:F45 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD10CM:F45.0 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD9CM:300.8 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD9CM:300.81 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref MESH:D013001 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref NCI:C34956 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS_CUI:C0037650 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS_CUI:C0520482 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS:C0037650 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS:C0520482 semapv:UnspecifiedMatching DOID:4739 testicular Brenner tumor oboInOwl:hasDbXref NCI:C39953 semapv:UnspecifiedMatching -DOID:4739 testicular Brenner tumor oboInOwl:hasDbXref UMLS_CUI:C1515281 semapv:UnspecifiedMatching +DOID:4739 testicular Brenner tumor oboInOwl:hasDbXref UMLS:C1515281 semapv:UnspecifiedMatching DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref NCI:C4298 semapv:UnspecifiedMatching -DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref UMLS_CUI:C0205788 semapv:UnspecifiedMatching +DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref UMLS:C0205788 semapv:UnspecifiedMatching DOID:4743 mixed testicular germ cell tumor oboInOwl:hasDbXref NCI:C6347 semapv:UnspecifiedMatching -DOID:4743 mixed testicular germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1336720 semapv:UnspecifiedMatching +DOID:4743 mixed testicular germ cell tumor oboInOwl:hasDbXref UMLS:C1336720 semapv:UnspecifiedMatching DOID:4744 placenta accreta oboInOwl:hasDbXref ICD10CM:O43.21 semapv:UnspecifiedMatching DOID:4744 placenta accreta oboInOwl:hasDbXref MESH:D010921 semapv:UnspecifiedMatching DOID:4744 placenta accreta oboInOwl:hasDbXref NCI:C26856 semapv:UnspecifiedMatching -DOID:4744 placenta accreta oboInOwl:hasDbXref UMLS_CUI:C0032044 semapv:UnspecifiedMatching +DOID:4744 placenta accreta oboInOwl:hasDbXref UMLS:C0032044 semapv:UnspecifiedMatching DOID:4749 middle cranial fossa meningioma oboInOwl:hasDbXref NCI:C5586 semapv:UnspecifiedMatching -DOID:4749 middle cranial fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1334757 semapv:UnspecifiedMatching +DOID:4749 middle cranial fossa meningioma oboInOwl:hasDbXref UMLS:C1334757 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref ICD10CM:G23.2 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref MESH:D020955 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref NCI:C125695 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:609161 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref UMLS_CUI:C0270733 semapv:UnspecifiedMatching +DOID:4751 striatonigral degeneration oboInOwl:hasDbXref UMLS:C0270733 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref GARD:7079 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref MESH:D012791 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref MESH:D019578 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref NCI:C84909 semapv:UnspecifiedMatching -DOID:4752 multiple system atrophy oboInOwl:hasDbXref UMLS_CUI:C0037019 semapv:UnspecifiedMatching -DOID:4752 multiple system atrophy oboInOwl:hasDbXref UMLS_CUI:C0393571 semapv:UnspecifiedMatching +DOID:4752 multiple system atrophy oboInOwl:hasDbXref UMLS:C0037019 semapv:UnspecifiedMatching +DOID:4752 multiple system atrophy oboInOwl:hasDbXref UMLS:C0393571 semapv:UnspecifiedMatching DOID:4756 testicular Leydig cell tumor oboInOwl:hasDbXref NCI:C39942 semapv:UnspecifiedMatching DOID:4756 testicular Leydig cell tumor oboInOwl:hasDbXref NCI:C6356 semapv:UnspecifiedMatching -DOID:4756 testicular Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C0863027 semapv:UnspecifiedMatching -DOID:4756 testicular Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C1515288 semapv:UnspecifiedMatching +DOID:4756 testicular Leydig cell tumor oboInOwl:hasDbXref UMLS:C0863027 semapv:UnspecifiedMatching +DOID:4756 testicular Leydig cell tumor oboInOwl:hasDbXref UMLS:C1515288 semapv:UnspecifiedMatching DOID:4757 testicular sex cord-stromal neoplasm oboInOwl:hasDbXref NCI:C39948 semapv:UnspecifiedMatching -DOID:4757 testicular sex cord-stromal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1515289 semapv:UnspecifiedMatching +DOID:4757 testicular sex cord-stromal neoplasm oboInOwl:hasDbXref UMLS:C1515289 semapv:UnspecifiedMatching DOID:476 breast hemangioma oboInOwl:hasDbXref NCI:C5353 semapv:UnspecifiedMatching -DOID:476 breast hemangioma oboInOwl:hasDbXref UMLS_CUI:C0853715 semapv:UnspecifiedMatching +DOID:476 breast hemangioma oboInOwl:hasDbXref UMLS:C0853715 semapv:UnspecifiedMatching DOID:4762 vasculogenic impotence oboInOwl:hasDbXref MESH:D018783 semapv:UnspecifiedMatching -DOID:4762 vasculogenic impotence oboInOwl:hasDbXref UMLS_CUI:C0243000 semapv:UnspecifiedMatching +DOID:4762 vasculogenic impotence oboInOwl:hasDbXref UMLS:C0243000 semapv:UnspecifiedMatching DOID:4765 pulmonary blastoma oboInOwl:hasDbXref ICDO:8972/3 semapv:UnspecifiedMatching DOID:4765 pulmonary blastoma oboInOwl:hasDbXref MESH:D018202 semapv:UnspecifiedMatching DOID:4765 pulmonary blastoma oboInOwl:hasDbXref NCI:C3732 semapv:UnspecifiedMatching -DOID:4765 pulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C0206629 semapv:UnspecifiedMatching +DOID:4765 pulmonary blastoma oboInOwl:hasDbXref UMLS:C0206629 semapv:UnspecifiedMatching DOID:4766 embryoma oboInOwl:hasDbXref NCI:C8997 semapv:UnspecifiedMatching -DOID:4766 embryoma oboInOwl:hasDbXref UMLS_CUI:C0936282 semapv:UnspecifiedMatching +DOID:4766 embryoma oboInOwl:hasDbXref UMLS:C0936282 semapv:UnspecifiedMatching DOID:4767 classic pulmonary blastoma oboInOwl:hasDbXref NCI:C36054 semapv:UnspecifiedMatching -DOID:4767 classic pulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1332556 semapv:UnspecifiedMatching +DOID:4767 classic pulmonary blastoma oboInOwl:hasDbXref UMLS:C1332556 semapv:UnspecifiedMatching DOID:4768 epithelial predominant pulmonary blastoma oboInOwl:hasDbXref NCI:C36053 semapv:UnspecifiedMatching -DOID:4768 epithelial predominant pulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1333420 semapv:UnspecifiedMatching +DOID:4768 epithelial predominant pulmonary blastoma oboInOwl:hasDbXref UMLS:C1333420 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref GARD:8757 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref ICDO:8973/3 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref MESH:C537516 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref NCI:C5669 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref ORDO:64742 semapv:UnspecifiedMatching -DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1266144 semapv:UnspecifiedMatching +DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref UMLS:C1266144 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref GARD:1493 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref MESH:D018201 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C6569 semapv:UnspecifiedMatching -DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS_CUI:C1332965 semapv:UnspecifiedMatching +DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1332965 semapv:UnspecifiedMatching DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref ICD10CM:N01 semapv:UnspecifiedMatching DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref NCI:C35264 semapv:UnspecifiedMatching -DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0221239 semapv:UnspecifiedMatching +DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS:C0221239 semapv:UnspecifiedMatching DOID:4777 exudative glomerulonephritis oboInOwl:hasDbXref NCI:C35706 semapv:UnspecifiedMatching -DOID:4777 exudative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0546345 semapv:UnspecifiedMatching +DOID:4777 exudative glomerulonephritis oboInOwl:hasDbXref UMLS:C0546345 semapv:UnspecifiedMatching DOID:4778 proliferative glomerulonephritis oboInOwl:hasDbXref NCI:C35281 semapv:UnspecifiedMatching -DOID:4778 proliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0235618 semapv:UnspecifiedMatching +DOID:4778 proliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0235618 semapv:UnspecifiedMatching DOID:4779 focal embolic glomerulonephritis oboInOwl:hasDbXref NCI:C35707 semapv:UnspecifiedMatching -DOID:4779 focal embolic glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0238143 semapv:UnspecifiedMatching +DOID:4779 focal embolic glomerulonephritis oboInOwl:hasDbXref UMLS:C0238143 semapv:UnspecifiedMatching DOID:4780 anti-basement membrane glomerulonephritis oboInOwl:hasDbXref NCI:C35798 semapv:UnspecifiedMatching -DOID:4780 anti-basement membrane glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C1332309 semapv:UnspecifiedMatching +DOID:4780 anti-basement membrane glomerulonephritis oboInOwl:hasDbXref UMLS:C1332309 semapv:UnspecifiedMatching DOID:4781 diffuse glomerulonephritis oboInOwl:hasDbXref NCI:C35799 semapv:UnspecifiedMatching -DOID:4781 diffuse glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0859036 semapv:UnspecifiedMatching +DOID:4781 diffuse glomerulonephritis oboInOwl:hasDbXref UMLS:C0859036 semapv:UnspecifiedMatching DOID:4782 subacute glomerulonephritis oboInOwl:hasDbXref NCI:C35801 semapv:UnspecifiedMatching -DOID:4782 subacute glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C1263744 semapv:UnspecifiedMatching +DOID:4782 subacute glomerulonephritis oboInOwl:hasDbXref UMLS:C1263744 semapv:UnspecifiedMatching DOID:4783 mesangial proliferative glomerulonephritis oboInOwl:hasDbXref GARD:9580 semapv:UnspecifiedMatching DOID:4783 mesangial proliferative glomerulonephritis oboInOwl:hasDbXref NCI:C35445 semapv:UnspecifiedMatching -DOID:4783 mesangial proliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0221238 semapv:UnspecifiedMatching +DOID:4783 mesangial proliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0221238 semapv:UnspecifiedMatching DOID:4784 immune-complex glomerulonephritis oboInOwl:hasDbXref NCI:C35800 semapv:UnspecifiedMatching -DOID:4784 immune-complex glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0744421 semapv:UnspecifiedMatching +DOID:4784 immune-complex glomerulonephritis oboInOwl:hasDbXref UMLS:C0744421 semapv:UnspecifiedMatching DOID:4787 cerebellopontine angle primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C5436 semapv:UnspecifiedMatching -DOID:4787 cerebellopontine angle primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1332904 semapv:UnspecifiedMatching +DOID:4787 cerebellopontine angle primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C1332904 semapv:UnspecifiedMatching DOID:4788 intracranial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C5817 semapv:UnspecifiedMatching -DOID:4788 intracranial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1334246 semapv:UnspecifiedMatching +DOID:4788 intracranial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C1334246 semapv:UnspecifiedMatching DOID:479 angiokeratoma oboInOwl:hasDbXref ICDO:9141/0 semapv:UnspecifiedMatching DOID:479 angiokeratoma oboInOwl:hasDbXref MESH:D000794 semapv:UnspecifiedMatching DOID:479 angiokeratoma oboInOwl:hasDbXref NCI:C2874 semapv:UnspecifiedMatching DOID:479 angiokeratoma oboInOwl:hasDbXref NCI:C4488 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C0002985 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C0346075 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS:C0002985 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS:C0346075 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref ICDO:9501/3 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref NCI:C66808 semapv:UnspecifiedMatching -DOID:4790 medulloepithelioma oboInOwl:hasDbXref UMLS_CUI:C0334596 semapv:UnspecifiedMatching +DOID:4790 medulloepithelioma oboInOwl:hasDbXref UMLS:C0334596 semapv:UnspecifiedMatching DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref GARD:7366 semapv:UnspecifiedMatching DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C6968 semapv:UnspecifiedMatching -DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1336538 semapv:UnspecifiedMatching +DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C1336538 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref MESH:D049290 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref NCI:C133084 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching -DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS_CUI:C0268275 semapv:UnspecifiedMatching +DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant skos:exactMatch OMIM:272750 semapv:UnspecifiedMatching DOID:4796 space motion sickness oboInOwl:hasDbXref MESH:D018489 semapv:UnspecifiedMatching -DOID:4796 space motion sickness oboInOwl:hasDbXref UMLS_CUI:C0242700 semapv:UnspecifiedMatching +DOID:4796 space motion sickness oboInOwl:hasDbXref UMLS:C0242700 semapv:UnspecifiedMatching DOID:4797 SM-AHNMD oboInOwl:hasDbXref NCI:C9284 semapv:UnspecifiedMatching -DOID:4797 SM-AHNMD oboInOwl:hasDbXref UMLS_CUI:C1301365 semapv:UnspecifiedMatching +DOID:4797 SM-AHNMD oboInOwl:hasDbXref UMLS:C1301365 semapv:UnspecifiedMatching DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10CM:C96.21 semapv:UnspecifiedMatching DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref NCI:C9285 semapv:UnspecifiedMatching -DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref UMLS_CUI:C1112486 semapv:UnspecifiedMatching +DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref UMLS:C1112486 semapv:UnspecifiedMatching DOID:48 male reproductive system disease oboInOwl:hasDbXref ICD10CM:N50.9 semapv:UnspecifiedMatching DOID:48 male reproductive system disease oboInOwl:hasDbXref ICD9CM:608.9 semapv:UnspecifiedMatching DOID:48 male reproductive system disease oboInOwl:hasDbXref MESH:D005832 semapv:UnspecifiedMatching -DOID:48 male reproductive system disease oboInOwl:hasDbXref UMLS_CUI:C0017412 semapv:UnspecifiedMatching +DOID:48 male reproductive system disease oboInOwl:hasDbXref UMLS:C0017412 semapv:UnspecifiedMatching DOID:480 movement disease oboInOwl:hasDbXref MESH:D009069 semapv:UnspecifiedMatching DOID:480 movement disease oboInOwl:hasDbXref NCI:C116757 semapv:UnspecifiedMatching -DOID:480 movement disease oboInOwl:hasDbXref UMLS_CUI:C0026650 semapv:UnspecifiedMatching -DOID:481 obsolete central nervous system hereditary degenerative disease oboInOwl:hasDbXref UMLS_CUI:C0014887 semapv:UnspecifiedMatching +DOID:480 movement disease oboInOwl:hasDbXref UMLS:C0026650 semapv:UnspecifiedMatching +DOID:481 obsolete central nervous system hereditary degenerative disease oboInOwl:hasDbXref UMLS:C0014887 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref GARD:5622 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref NCI:C84628 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref ORDO:909 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS_CUI:C0238052 semapv:UnspecifiedMatching +DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS:C0238052 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis skos:exactMatch OMIM:213700 semapv:UnspecifiedMatching DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref NCI:C9370 semapv:UnspecifiedMatching -DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref UMLS_CUI:C1377914 semapv:UnspecifiedMatching +DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref UMLS:C1377914 semapv:UnspecifiedMatching DOID:4813 adult brain stem glioma oboInOwl:hasDbXref NCI:C9091 semapv:UnspecifiedMatching -DOID:4813 adult brain stem glioma oboInOwl:hasDbXref UMLS_CUI:C0278873 semapv:UnspecifiedMatching +DOID:4813 adult brain stem glioma oboInOwl:hasDbXref UMLS:C0278873 semapv:UnspecifiedMatching DOID:4817 ganglioneuroma oboInOwl:hasDbXref ICDO:9490/0 semapv:UnspecifiedMatching DOID:4817 ganglioneuroma oboInOwl:hasDbXref MESH:D005729 semapv:UnspecifiedMatching DOID:4817 ganglioneuroma oboInOwl:hasDbXref NCI:C3049 semapv:UnspecifiedMatching DOID:4817 ganglioneuroma oboInOwl:hasDbXref NCI:C42065 semapv:UnspecifiedMatching -DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C0017075 semapv:UnspecifiedMatching -DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C1513025 semapv:UnspecifiedMatching +DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS:C0017075 semapv:UnspecifiedMatching +DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS:C1513025 semapv:UnspecifiedMatching DOID:482 hemangioma of peripheral nerve oboInOwl:hasDbXref NCI:C27507 semapv:UnspecifiedMatching -DOID:482 hemangioma of peripheral nerve oboInOwl:hasDbXref UMLS_CUI:C1333956 semapv:UnspecifiedMatching +DOID:482 hemangioma of peripheral nerve oboInOwl:hasDbXref UMLS:C1333956 semapv:UnspecifiedMatching DOID:4829 adenosquamous lung carcinoma oboInOwl:hasDbXref NCI:C9133 semapv:UnspecifiedMatching -DOID:4829 adenosquamous lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279557 semapv:UnspecifiedMatching +DOID:4829 adenosquamous lung carcinoma oboInOwl:hasDbXref UMLS:C0279557 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref ICD10CM:D18.0 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref ICDO:9121/0 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref MESH:D006392 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref NCI:C3086 semapv:UnspecifiedMatching -DOID:483 cavernous hemangioma oboInOwl:hasDbXref UMLS_CUI:C0018920 semapv:UnspecifiedMatching +DOID:483 cavernous hemangioma oboInOwl:hasDbXref UMLS:C0018920 semapv:UnspecifiedMatching DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref ICDO:8560/3 semapv:UnspecifiedMatching DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref MESH:D018196 semapv:UnspecifiedMatching DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref NCI:C3727 semapv:UnspecifiedMatching -DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206623 semapv:UnspecifiedMatching +DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C0206623 semapv:UnspecifiedMatching DOID:4837 Gorham's disease oboInOwl:hasDbXref GARD:6542 semapv:UnspecifiedMatching DOID:4837 Gorham's disease oboInOwl:hasDbXref MESH:D010015 semapv:UnspecifiedMatching -DOID:4837 Gorham's disease oboInOwl:hasDbXref UMLS_CUI:C0029436 semapv:UnspecifiedMatching +DOID:4837 Gorham's disease oboInOwl:hasDbXref UMLS:C0029436 semapv:UnspecifiedMatching DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref GARD:10558 semapv:UnspecifiedMatching DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref ICDO:8982/3 semapv:UnspecifiedMatching DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref NCI:C7596 semapv:UnspecifiedMatching -DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334699 semapv:UnspecifiedMatching +DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref UMLS:C0334699 semapv:UnspecifiedMatching DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref MESH:D018266 semapv:UnspecifiedMatching DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref NCI:C40310 semapv:UnspecifiedMatching -DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206684 semapv:UnspecifiedMatching +DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref UMLS:C0206684 semapv:UnspecifiedMatching DOID:484 vascular hemostatic disease oboInOwl:hasDbXref MESH:D020141 semapv:UnspecifiedMatching -DOID:484 vascular hemostatic disease oboInOwl:hasDbXref UMLS_CUI:C0600502 semapv:UnspecifiedMatching +DOID:484 vascular hemostatic disease oboInOwl:hasDbXref UMLS:C0600502 semapv:UnspecifiedMatching DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref ICD10CM:C44 semapv:UnspecifiedMatching DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref ICDO:8410/3 semapv:UnspecifiedMatching DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref NCI:C8409 semapv:UnspecifiedMatching -DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1382026 semapv:UnspecifiedMatching +DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref UMLS:C1382026 semapv:UnspecifiedMatching DOID:4843 subependymal glioma oboInOwl:hasDbXref ICDO:9383/1 semapv:UnspecifiedMatching DOID:4843 subependymal glioma oboInOwl:hasDbXref MESH:D018315 semapv:UnspecifiedMatching DOID:4843 subependymal glioma oboInOwl:hasDbXref NCI:C3795 semapv:UnspecifiedMatching -DOID:4843 subependymal glioma oboInOwl:hasDbXref UMLS_CUI:C0206725 semapv:UnspecifiedMatching +DOID:4843 subependymal glioma oboInOwl:hasDbXref UMLS:C0206725 semapv:UnspecifiedMatching DOID:4844 benign ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:4844 benign ependymoma oboInOwl:hasDbXref NCI:C3017 semapv:UnspecifiedMatching -DOID:4844 benign ependymoma oboInOwl:hasDbXref UMLS_CUI:C0014474 semapv:UnspecifiedMatching +DOID:4844 benign ependymoma oboInOwl:hasDbXref UMLS:C0014474 semapv:UnspecifiedMatching DOID:4845 pilomyxoid astrocytoma oboInOwl:hasDbXref ICDO:9425/3 semapv:UnspecifiedMatching DOID:4845 pilomyxoid astrocytoma oboInOwl:hasDbXref NCI:C40315 semapv:UnspecifiedMatching -DOID:4845 pilomyxoid astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1519086 semapv:UnspecifiedMatching +DOID:4845 pilomyxoid astrocytoma oboInOwl:hasDbXref UMLS:C1519086 semapv:UnspecifiedMatching DOID:4846 cauda equina intradural extramedullary astrocytoma oboInOwl:hasDbXref NCI:C5408 semapv:UnspecifiedMatching -DOID:4846 cauda equina intradural extramedullary astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1334254 semapv:UnspecifiedMatching +DOID:4846 cauda equina intradural extramedullary astrocytoma oboInOwl:hasDbXref UMLS:C1334254 semapv:UnspecifiedMatching DOID:4847 cauda equina neoplasm oboInOwl:hasDbXref NCI:C5479 semapv:UnspecifiedMatching -DOID:4847 cauda equina neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263892 semapv:UnspecifiedMatching +DOID:4847 cauda equina neoplasm oboInOwl:hasDbXref UMLS:C1263892 semapv:UnspecifiedMatching DOID:4848 cerebellar astrocytoma oboInOwl:hasDbXref NCI:C9475 semapv:UnspecifiedMatching -DOID:4848 cerebellar astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0740480 semapv:UnspecifiedMatching +DOID:4848 cerebellar astrocytoma oboInOwl:hasDbXref UMLS:C0740480 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref GARD:9808 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref ICDO:9421/1 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref NCI:C4047 semapv:UnspecifiedMatching -DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334583 semapv:UnspecifiedMatching +DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334583 semapv:UnspecifiedMatching DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICDO:9424/3 semapv:UnspecifiedMatching DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref NCI:C4323 semapv:UnspecifiedMatching -DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334586 semapv:UnspecifiedMatching +DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS:C0334586 semapv:UnspecifiedMatching DOID:4853 pilocytic astrocytoma of cerebellum oboInOwl:hasDbXref NCI:C6809 semapv:UnspecifiedMatching -DOID:4853 pilocytic astrocytoma of cerebellum oboInOwl:hasDbXref UMLS_CUI:C0349620 semapv:UnspecifiedMatching +DOID:4853 pilocytic astrocytoma of cerebellum oboInOwl:hasDbXref UMLS:C0349620 semapv:UnspecifiedMatching DOID:4855 diencephalic astrocytoma oboInOwl:hasDbXref NCI:C5128 semapv:UnspecifiedMatching -DOID:4855 diencephalic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1333284 semapv:UnspecifiedMatching +DOID:4855 diencephalic astrocytoma oboInOwl:hasDbXref UMLS:C1333284 semapv:UnspecifiedMatching DOID:4856 gliofibroma oboInOwl:hasDbXref ICDO:9442/1 semapv:UnspecifiedMatching DOID:4856 gliofibroma oboInOwl:hasDbXref NCI:C5419 semapv:UnspecifiedMatching -DOID:4856 gliofibroma oboInOwl:hasDbXref UMLS_CUI:C1266178 semapv:UnspecifiedMatching +DOID:4856 gliofibroma oboInOwl:hasDbXref UMLS:C1266178 semapv:UnspecifiedMatching DOID:4857 diffuse astrocytoma oboInOwl:hasDbXref NCI:C7173 semapv:UnspecifiedMatching DOID:4858 pineal gland astrocytoma oboInOwl:hasDbXref NCI:C8274 semapv:UnspecifiedMatching -DOID:4858 pineal gland astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280795 semapv:UnspecifiedMatching +DOID:4858 pineal gland astrocytoma oboInOwl:hasDbXref UMLS:C0280795 semapv:UnspecifiedMatching DOID:486 glomeruloid hemangioma oboInOwl:hasDbXref NCI:C27505 semapv:UnspecifiedMatching -DOID:486 glomeruloid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1304511 semapv:UnspecifiedMatching +DOID:486 glomeruloid hemangioma oboInOwl:hasDbXref UMLS:C1304511 semapv:UnspecifiedMatching DOID:4860 brain stem astrocytic neoplasm oboInOwl:hasDbXref NCI:C7445 semapv:UnspecifiedMatching -DOID:4860 brain stem astrocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332608 semapv:UnspecifiedMatching +DOID:4860 brain stem astrocytic neoplasm oboInOwl:hasDbXref UMLS:C1332608 semapv:UnspecifiedMatching DOID:4863 spinal cord astrocytoma oboInOwl:hasDbXref NCI:C4641 semapv:UnspecifiedMatching -DOID:4863 spinal cord astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0349540 semapv:UnspecifiedMatching +DOID:4863 spinal cord astrocytoma oboInOwl:hasDbXref UMLS:C0349540 semapv:UnspecifiedMatching DOID:4866 salivary gland adenoid cystic carcinoma oboInOwl:hasDbXref MESH:D003528 semapv:UnspecifiedMatching DOID:4866 salivary gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C2970 semapv:UnspecifiedMatching -DOID:4866 salivary gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0010606 semapv:UnspecifiedMatching +DOID:4866 salivary gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C0010606 semapv:UnspecifiedMatching DOID:4867 cervical adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6346 semapv:UnspecifiedMatching -DOID:4867 cervical adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332911 semapv:UnspecifiedMatching +DOID:4867 cervical adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1332911 semapv:UnspecifiedMatching DOID:4868 prostate adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5539 semapv:UnspecifiedMatching -DOID:4868 prostate adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335502 semapv:UnspecifiedMatching +DOID:4868 prostate adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1335502 semapv:UnspecifiedMatching DOID:4869 laryngeal adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C9462 semapv:UnspecifiedMatching -DOID:4869 laryngeal adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334368 semapv:UnspecifiedMatching +DOID:4869 laryngeal adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1334368 semapv:UnspecifiedMatching DOID:4870 lacrimal gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C4540 semapv:UnspecifiedMatching -DOID:4870 lacrimal gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346340 semapv:UnspecifiedMatching -DOID:4871 cutaneous adenocystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346017 semapv:UnspecifiedMatching +DOID:4870 lacrimal gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C0346340 semapv:UnspecifiedMatching +DOID:4871 cutaneous adenocystic carcinoma oboInOwl:hasDbXref UMLS:C0346017 semapv:UnspecifiedMatching DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5666 semapv:UnspecifiedMatching -DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334439 semapv:UnspecifiedMatching +DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1334439 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref ICD9CM:335 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching -DOID:4873 anterior horn cell disease oboInOwl:hasDbXref UMLS_CUI:C0154681 semapv:UnspecifiedMatching +DOID:4873 anterior horn cell disease oboInOwl:hasDbXref UMLS:C0154681 semapv:UnspecifiedMatching DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6051 semapv:UnspecifiedMatching -DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345945 semapv:UnspecifiedMatching -DOID:4876 trachea carcinoma oboInOwl:hasDbXref UMLS_CUI:C0848879 semapv:UnspecifiedMatching +DOID:4875 trachea adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C0345945 semapv:UnspecifiedMatching +DOID:4876 trachea carcinoma oboInOwl:hasDbXref UMLS:C0848879 semapv:UnspecifiedMatching DOID:4877 breast adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5130 semapv:UnspecifiedMatching -DOID:4877 breast adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332167 semapv:UnspecifiedMatching +DOID:4877 breast adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1332167 semapv:UnspecifiedMatching DOID:4878 esophageal adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5342 semapv:UnspecifiedMatching -DOID:4878 esophageal adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333441 semapv:UnspecifiedMatching +DOID:4878 esophageal adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1333441 semapv:UnspecifiedMatching DOID:4879 Bartholin's gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C40295 semapv:UnspecifiedMatching -DOID:4879 Bartholin's gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511047 semapv:UnspecifiedMatching +DOID:4879 Bartholin's gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1511047 semapv:UnspecifiedMatching DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref NCI:C4264 semapv:UnspecifiedMatching DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref ORDO:457246 semapv:UnspecifiedMatching -DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334488 semapv:UnspecifiedMatching +DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref UMLS:C0334488 semapv:UnspecifiedMatching DOID:4885 Colorado tick fever oboInOwl:hasDbXref ICD10CM:A93.2 semapv:UnspecifiedMatching DOID:4885 Colorado tick fever oboInOwl:hasDbXref MESH:D003121 semapv:UnspecifiedMatching -DOID:4885 Colorado tick fever oboInOwl:hasDbXref UMLS_CUI:C0009400 semapv:UnspecifiedMatching +DOID:4885 Colorado tick fever oboInOwl:hasDbXref UMLS:C0009400 semapv:UnspecifiedMatching DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref ICD10CM:A18.2 semapv:UnspecifiedMatching DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref MESH:D014388 semapv:UnspecifiedMatching DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref MESH:D018601 semapv:UnspecifiedMatching DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref NCI:C26896 semapv:UnspecifiedMatching -DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041316 semapv:UnspecifiedMatching -DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0242830 semapv:UnspecifiedMatching +DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS:C0041316 semapv:UnspecifiedMatching +DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS:C0242830 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref GARD:6808 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref NCI:C84796 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:307 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270853 semapv:UnspecifiedMatching +DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0270853 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy skos:exactMatch OMIM:254770 semapv:UnspecifiedMatching DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref NCI:C6848 semapv:UnspecifiedMatching -DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334758 semapv:UnspecifiedMatching +DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref UMLS:C1334758 semapv:UnspecifiedMatching DOID:4893 middle ear carcinoma oboInOwl:hasDbXref NCI:C6089 semapv:UnspecifiedMatching -DOID:4893 middle ear carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334760 semapv:UnspecifiedMatching +DOID:4893 middle ear carcinoma oboInOwl:hasDbXref UMLS:C1334760 semapv:UnspecifiedMatching DOID:4894 rete ovarii adenocarcinoma oboInOwl:hasDbXref NCI:C40017 semapv:UnspecifiedMatching -DOID:4894 rete ovarii adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C3840223 semapv:UnspecifiedMatching +DOID:4894 rete ovarii adenocarcinoma oboInOwl:hasDbXref UMLS:C3840223 semapv:UnspecifiedMatching DOID:4895 rete ovarii benign neoplasm oboInOwl:hasDbXref NCI:C40016 semapv:UnspecifiedMatching -DOID:4895 rete ovarii benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1514909 semapv:UnspecifiedMatching +DOID:4895 rete ovarii benign neoplasm oboInOwl:hasDbXref UMLS:C1514909 semapv:UnspecifiedMatching DOID:4896 bile duct adenocarcinoma oboInOwl:hasDbXref NCI:C27813 semapv:UnspecifiedMatching -DOID:4896 bile duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1370800 semapv:UnspecifiedMatching +DOID:4896 bile duct adenocarcinoma oboInOwl:hasDbXref UMLS:C1370800 semapv:UnspecifiedMatching DOID:4897 bile duct carcinoma oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching DOID:4897 bile duct carcinoma oboInOwl:hasDbXref NCI:C27814 semapv:UnspecifiedMatching -DOID:4897 bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0740277 semapv:UnspecifiedMatching +DOID:4897 bile duct carcinoma oboInOwl:hasDbXref UMLS:C0740277 semapv:UnspecifiedMatching DOID:4901 peritoneal serous adenocarcinoma oboInOwl:hasDbXref NCI:C40023 semapv:UnspecifiedMatching -DOID:4901 peritoneal serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1514429 semapv:UnspecifiedMatching +DOID:4901 peritoneal serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1514429 semapv:UnspecifiedMatching DOID:4902 appendix carcinoma oboInOwl:hasDbXref NCI:C9330 semapv:UnspecifiedMatching -DOID:4902 appendix carcinoma oboInOwl:hasDbXref UMLS_CUI:C0728951 semapv:UnspecifiedMatching +DOID:4902 appendix carcinoma oboInOwl:hasDbXref UMLS:C0728951 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref ICDO:8320/3 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref NCI:C3681 semapv:UnspecifiedMatching -DOID:4903 granular cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0205644 semapv:UnspecifiedMatching +DOID:4903 granular cell carcinoma oboInOwl:hasDbXref UMLS:C0205644 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref EFO:0002618 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref MESH:C562463 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref NCI:C3850 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 semapv:UnspecifiedMatching -DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0235974 semapv:UnspecifiedMatching +DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref UMLS:C0235974 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma skos:exactMatch OMIM:260350 semapv:UnspecifiedMatching DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref GARD:13090 semapv:UnspecifiedMatching DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref NCI:C7888 semapv:UnspecifiedMatching -DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0278803 semapv:UnspecifiedMatching +DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref UMLS:C0278803 semapv:UnspecifiedMatching DOID:4907 small intestine carcinoma oboInOwl:hasDbXref NCI:C7724 semapv:UnspecifiedMatching -DOID:4907 small intestine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238196 semapv:UnspecifiedMatching +DOID:4907 small intestine carcinoma oboInOwl:hasDbXref UMLS:C0238196 semapv:UnspecifiedMatching DOID:4908 anal carcinoma oboInOwl:hasDbXref MESH:D001005 semapv:UnspecifiedMatching DOID:4908 anal carcinoma oboInOwl:hasDbXref NCI:C9291 semapv:UnspecifiedMatching -DOID:4908 anal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279637 semapv:UnspecifiedMatching +DOID:4908 anal carcinoma oboInOwl:hasDbXref UMLS:C0279637 semapv:UnspecifiedMatching DOID:4910 urethra adenocarcinoma oboInOwl:hasDbXref NCI:C6167 semapv:UnspecifiedMatching -DOID:4910 urethra adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336885 semapv:UnspecifiedMatching +DOID:4910 urethra adenocarcinoma oboInOwl:hasDbXref UMLS:C1336885 semapv:UnspecifiedMatching DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref MESH:C562730 semapv:UnspecifiedMatching DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref NCI:C4025 semapv:UnspecifiedMatching -DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279628 semapv:UnspecifiedMatching +DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref UMLS:C0279628 semapv:UnspecifiedMatching DOID:4915 basophilic adenocarcinoma oboInOwl:hasDbXref NCI:C4150 semapv:UnspecifiedMatching -DOID:4915 basophilic adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334314 semapv:UnspecifiedMatching +DOID:4915 basophilic adenocarcinoma oboInOwl:hasDbXref UMLS:C0334314 semapv:UnspecifiedMatching DOID:4916 pituitary carcinoma oboInOwl:hasDbXref ICDO:8272/3 semapv:UnspecifiedMatching DOID:4916 pituitary carcinoma oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching DOID:4916 pituitary carcinoma oboInOwl:hasDbXref NCI:C4536 semapv:UnspecifiedMatching -DOID:4916 pituitary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346300 semapv:UnspecifiedMatching +DOID:4916 pituitary carcinoma oboInOwl:hasDbXref UMLS:C0346300 semapv:UnspecifiedMatching DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref ICDO:8262/3 semapv:UnspecifiedMatching DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref NCI:C4142 semapv:UnspecifiedMatching -DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334306 semapv:UnspecifiedMatching +DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref UMLS:C0334306 semapv:UnspecifiedMatching DOID:4918 renal pelvis adenocarcinoma oboInOwl:hasDbXref NCI:C6143 semapv:UnspecifiedMatching -DOID:4918 renal pelvis adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335748 semapv:UnspecifiedMatching +DOID:4918 renal pelvis adenocarcinoma oboInOwl:hasDbXref UMLS:C1335748 semapv:UnspecifiedMatching DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref ICD10CM:C65 semapv:UnspecifiedMatching DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref ICD9CM:189.1 semapv:UnspecifiedMatching DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref NCI:C6142 semapv:UnspecifiedMatching DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref NCI:C7525 semapv:UnspecifiedMatching -DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153618 semapv:UnspecifiedMatching -DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335749 semapv:UnspecifiedMatching +DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref UMLS:C0153618 semapv:UnspecifiedMatching +DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref UMLS:C1335749 semapv:UnspecifiedMatching DOID:492 acquired hemangioma oboInOwl:hasDbXref NCI:C27018 semapv:UnspecifiedMatching -DOID:492 acquired hemangioma oboInOwl:hasDbXref UMLS_CUI:C0856897 semapv:UnspecifiedMatching +DOID:492 acquired hemangioma oboInOwl:hasDbXref UMLS:C0856897 semapv:UnspecifiedMatching DOID:4920 eccrine adenocarcinoma oboInOwl:hasDbXref ICDO:8413/3 semapv:UnspecifiedMatching -DOID:4920 eccrine adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266066 semapv:UnspecifiedMatching +DOID:4920 eccrine adenocarcinoma oboInOwl:hasDbXref UMLS:C1266066 semapv:UnspecifiedMatching DOID:4921 eccrine sweat gland cancer oboInOwl:hasDbXref NCI:C5559 semapv:UnspecifiedMatching -DOID:4921 eccrine sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1334577 semapv:UnspecifiedMatching +DOID:4921 eccrine sweat gland cancer oboInOwl:hasDbXref UMLS:C1334577 semapv:UnspecifiedMatching DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref MESH:C537535 semapv:UnspecifiedMatching DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref NCI:C4189 semapv:UnspecifiedMatching -DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334371 semapv:UnspecifiedMatching +DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref UMLS:C0334371 semapv:UnspecifiedMatching DOID:4923 thymus adenocarcinoma oboInOwl:hasDbXref NCI:C6459 semapv:UnspecifiedMatching -DOID:4923 thymus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336743 semapv:UnspecifiedMatching +DOID:4923 thymus adenocarcinoma oboInOwl:hasDbXref UMLS:C1336743 semapv:UnspecifiedMatching DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref MESH:D002282 semapv:UnspecifiedMatching DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref NCI:C2923 semapv:UnspecifiedMatching -DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007120 semapv:UnspecifiedMatching +DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref UMLS:C0007120 semapv:UnspecifiedMatching DOID:4927 Klatskin's tumor oboInOwl:hasDbXref GARD:10175 semapv:UnspecifiedMatching DOID:4927 Klatskin's tumor oboInOwl:hasDbXref MESH:D018285 semapv:UnspecifiedMatching DOID:4927 Klatskin's tumor oboInOwl:hasDbXref NCI:C36077 semapv:UnspecifiedMatching -DOID:4927 Klatskin's tumor oboInOwl:hasDbXref UMLS_CUI:C0206702 semapv:UnspecifiedMatching +DOID:4927 Klatskin's tumor oboInOwl:hasDbXref UMLS:C0206702 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref GARD:6042 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref ICD10CM:C22.1 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C35417 semapv:UnspecifiedMatching -DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0345905 semapv:UnspecifiedMatching +DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0345905 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref ICDO:8211/3 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref NCI:C65192 semapv:UnspecifiedMatching -DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0205645 semapv:UnspecifiedMatching +DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref UMLS:C0205645 semapv:UnspecifiedMatching DOID:4930 nasal cavity adenocarcinoma oboInOwl:hasDbXref NCI:C6015 semapv:UnspecifiedMatching -DOID:4930 nasal cavity adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334920 semapv:UnspecifiedMatching +DOID:4930 nasal cavity adenocarcinoma oboInOwl:hasDbXref UMLS:C1334920 semapv:UnspecifiedMatching DOID:4931 nasal cavity carcinoma oboInOwl:hasDbXref NCI:C9336 semapv:UnspecifiedMatching -DOID:4931 nasal cavity carcinoma oboInOwl:hasDbXref UMLS_CUI:C1377785 semapv:UnspecifiedMatching +DOID:4931 nasal cavity carcinoma oboInOwl:hasDbXref UMLS:C1377785 semapv:UnspecifiedMatching DOID:4932 ampulla of Vater carcinoma oboInOwl:hasDbXref NCI:C3908 semapv:UnspecifiedMatching -DOID:4932 ampulla of Vater carcinoma oboInOwl:hasDbXref UMLS_CUI:C0262401 semapv:UnspecifiedMatching +DOID:4932 ampulla of Vater carcinoma oboInOwl:hasDbXref UMLS:C0262401 semapv:UnspecifiedMatching DOID:4933 apocrine carcinoma oboInOwl:hasDbXref GARD:12138 semapv:UnspecifiedMatching DOID:4933 apocrine carcinoma oboInOwl:hasDbXref ICDO:8401/3 semapv:UnspecifiedMatching DOID:4933 apocrine carcinoma oboInOwl:hasDbXref NCI:C4169 semapv:UnspecifiedMatching -DOID:4933 apocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334346 semapv:UnspecifiedMatching +DOID:4933 apocrine carcinoma oboInOwl:hasDbXref UMLS:C0334346 semapv:UnspecifiedMatching DOID:4934 apocrine sweat gland cancer oboInOwl:hasDbXref NCI:C6800 semapv:UnspecifiedMatching -DOID:4934 apocrine sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1334561 semapv:UnspecifiedMatching +DOID:4934 apocrine sweat gland cancer oboInOwl:hasDbXref UMLS:C1334561 semapv:UnspecifiedMatching DOID:4938 ureter adenocarcinoma oboInOwl:hasDbXref NCI:C6155 semapv:UnspecifiedMatching -DOID:4938 ureter adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336873 semapv:UnspecifiedMatching +DOID:4938 ureter adenocarcinoma oboInOwl:hasDbXref UMLS:C1336873 semapv:UnspecifiedMatching DOID:4939 ureter carcinoma oboInOwl:hasDbXref NCI:C8993 semapv:UnspecifiedMatching -DOID:4939 ureter carcinoma oboInOwl:hasDbXref UMLS_CUI:C0600079 semapv:UnspecifiedMatching +DOID:4939 ureter carcinoma oboInOwl:hasDbXref UMLS:C0600079 semapv:UnspecifiedMatching DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref ICDO:8140/2 semapv:UnspecifiedMatching DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref MESH:D065311 semapv:UnspecifiedMatching DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref NCI:C4123 semapv:UnspecifiedMatching -DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0334276 semapv:UnspecifiedMatching +DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref UMLS:C0334276 semapv:UnspecifiedMatching DOID:4943 adenocarcinoma in situ skos:exactMatch MESH:D065311 semapv:UnspecifiedMatching DOID:4944 gastroesophageal junction adenocarcinoma oboInOwl:hasDbXref NCI:C9296 semapv:UnspecifiedMatching -DOID:4944 gastroesophageal junction adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332166 semapv:UnspecifiedMatching +DOID:4944 gastroesophageal junction adenocarcinoma oboInOwl:hasDbXref UMLS:C1332166 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref ICD10CM:C22.1 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref ICDO:8160/3 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref NCI:C4436 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref NCI:C8265 semapv:UnspecifiedMatching -DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206698 semapv:UnspecifiedMatching -DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0280725 semapv:UnspecifiedMatching +DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0206698 semapv:UnspecifiedMatching +DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0280725 semapv:UnspecifiedMatching DOID:4948 gallbladder carcinoma oboInOwl:hasDbXref NCI:C3844 semapv:UnspecifiedMatching -DOID:4948 gallbladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C0235782 semapv:UnspecifiedMatching -DOID:495 sclerosing hemangioma oboInOwl:hasDbXref UMLS_CUI:C1509148 semapv:UnspecifiedMatching +DOID:4948 gallbladder carcinoma oboInOwl:hasDbXref UMLS:C0235782 semapv:UnspecifiedMatching +DOID:495 sclerosing hemangioma oboInOwl:hasDbXref UMLS:C1509148 semapv:UnspecifiedMatching DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref GARD:4454 semapv:UnspecifiedMatching DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10CM:G14 semapv:UnspecifiedMatching DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref MESH:D016262 semapv:UnspecifiedMatching -DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS_CUI:C0080040 semapv:UnspecifiedMatching +DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS:C0080040 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref GARD:7413 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref ICD10CM:A80 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref ICD9CM:045 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref MESH:D011051 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref NCI:C35550 semapv:UnspecifiedMatching -DOID:4953 poliomyelitis oboInOwl:hasDbXref UMLS_CUI:C0032371 semapv:UnspecifiedMatching +DOID:4953 poliomyelitis oboInOwl:hasDbXref UMLS:C0032371 semapv:UnspecifiedMatching DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref NCI:C5504 semapv:UnspecifiedMatching -DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0349623 semapv:UnspecifiedMatching -DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332887 semapv:UnspecifiedMatching +DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref UMLS:C0349623 semapv:UnspecifiedMatching +DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref UMLS:C1332887 semapv:UnspecifiedMatching DOID:4957 meninges hemangiopericytoma oboInOwl:hasDbXref NCI:C4660 semapv:UnspecifiedMatching -DOID:4957 meninges hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0349622 semapv:UnspecifiedMatching +DOID:4957 meninges hemangiopericytoma oboInOwl:hasDbXref UMLS:C0349622 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref GARD:2150 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref ICD10CM:Q81.2 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref MESH:D016108 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref NCI:C84691 semapv:UnspecifiedMatching -DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref UMLS_CUI:C0079294 semapv:UnspecifiedMatching +DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref UMLS:C0079294 semapv:UnspecifiedMatching DOID:496 spindle cell hemangioma oboInOwl:hasDbXref NCI:C4754 semapv:UnspecifiedMatching -DOID:496 spindle cell hemangioma oboInOwl:hasDbXref UMLS_CUI:C1304508 semapv:UnspecifiedMatching +DOID:496 spindle cell hemangioma oboInOwl:hasDbXref UMLS:C1304508 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref EFO:0004251 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref ICD10CM:D47.1 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref MESH:D009196 semapv:UnspecifiedMatching -DOID:4960 bone marrow cancer oboInOwl:hasDbXref UMLS_CUI:C0027022 semapv:UnspecifiedMatching +DOID:4960 bone marrow cancer oboInOwl:hasDbXref UMLS:C0027022 semapv:UnspecifiedMatching DOID:4961 bone marrow disease oboInOwl:hasDbXref MESH:D001855 semapv:UnspecifiedMatching DOID:4961 bone marrow disease oboInOwl:hasDbXref NCI:C34433 semapv:UnspecifiedMatching -DOID:4961 bone marrow disease oboInOwl:hasDbXref UMLS_CUI:C0005956 semapv:UnspecifiedMatching +DOID:4961 bone marrow disease oboInOwl:hasDbXref UMLS:C0005956 semapv:UnspecifiedMatching DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref ICD10CM:A18.84 semapv:UnspecifiedMatching DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref MESH:D010495 semapv:UnspecifiedMatching -DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0031049 semapv:UnspecifiedMatching +DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref UMLS:C0031049 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref ICD10CM:F48.9 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D000275 semapv:UnspecifiedMatching @@ -30915,23 +31228,23 @@ DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D009497 semapv:UnspecifiedMa DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C34533 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C34848 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C35369 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0011579 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0027932 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0282126 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS:C0011579 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS:C0027932 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS:C0282126 semapv:UnspecifiedMatching DOID:4968 Nelson syndrome oboInOwl:hasDbXref GARD:7170 semapv:UnspecifiedMatching DOID:4968 Nelson syndrome oboInOwl:hasDbXref ICD10CM:E24.1 semapv:UnspecifiedMatching DOID:4968 Nelson syndrome oboInOwl:hasDbXref MESH:D009347 semapv:UnspecifiedMatching DOID:4968 Nelson syndrome oboInOwl:hasDbXref NCI:C84917 semapv:UnspecifiedMatching -DOID:4968 Nelson syndrome oboInOwl:hasDbXref UMLS_CUI:C0027577 semapv:UnspecifiedMatching +DOID:4968 Nelson syndrome oboInOwl:hasDbXref UMLS:C0027577 semapv:UnspecifiedMatching DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref GARD:8660 semapv:UnspecifiedMatching DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref MEDDRA:10048608 semapv:UnspecifiedMatching DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 semapv:UnspecifiedMatching DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref ORDO:221117 semapv:UnspecifiedMatching -DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0017494 semapv:UnspecifiedMatching +DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref UMLS:C0017494 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref ICD10CM:R48.3 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref MESH:D020238 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref NCI:C85031 semapv:UnspecifiedMatching -DOID:4970 prosopagnosia oboInOwl:hasDbXref UMLS_CUI:C0234512 semapv:UnspecifiedMatching +DOID:4970 prosopagnosia oboInOwl:hasDbXref UMLS:C0234512 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref GARD:8618 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD10CM:D47.4 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD10CM:D75.81 semapv:UnspecifiedMatching @@ -30941,34 +31254,34 @@ DOID:4971 myelofibrosis oboInOwl:hasDbXref MESH:D055728 semapv:UnspecifiedMatchi DOID:4971 myelofibrosis oboInOwl:hasDbXref NCI:C2862 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref NCI:C3248 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref OMIM:254450 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C0001815 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C0026987 semapv:UnspecifiedMatching +DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS:C0001815 semapv:UnspecifiedMatching +DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS:C0026987 semapv:UnspecifiedMatching DOID:4971 myelofibrosis skos:exactMatch OMIM:254450 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref MESH:D054437 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref NCI:C27262 semapv:UnspecifiedMatching -DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref UMLS_CUI:C1301355 semapv:UnspecifiedMatching +DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref UMLS:C1301355 semapv:UnspecifiedMatching DOID:4974 actinobacillosis oboInOwl:hasDbXref MESH:D000187 semapv:UnspecifiedMatching -DOID:4974 actinobacillosis oboInOwl:hasDbXref UMLS_CUI:C0001247 semapv:UnspecifiedMatching +DOID:4974 actinobacillosis oboInOwl:hasDbXref UMLS:C0001247 semapv:UnspecifiedMatching DOID:4974 actinobacillosis skos:exactMatch MESH:D000187 semapv:UnspecifiedMatching DOID:4976 elephantiasis oboInOwl:hasDbXref MESH:D004604 semapv:UnspecifiedMatching DOID:4976 elephantiasis oboInOwl:hasDbXref NCI:C34569 semapv:UnspecifiedMatching -DOID:4976 elephantiasis oboInOwl:hasDbXref UMLS_CUI:C0013882 semapv:UnspecifiedMatching +DOID:4976 elephantiasis oboInOwl:hasDbXref UMLS:C0013882 semapv:UnspecifiedMatching DOID:4977 lymphedema oboInOwl:hasDbXref MESH:D008209 semapv:UnspecifiedMatching DOID:4977 lymphedema oboInOwl:hasDbXref NCI:C3207 semapv:UnspecifiedMatching -DOID:4977 lymphedema oboInOwl:hasDbXref UMLS_CUI:C0024236 semapv:UnspecifiedMatching +DOID:4977 lymphedema oboInOwl:hasDbXref UMLS:C0024236 semapv:UnspecifiedMatching DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor oboInOwl:hasDbXref NCI:C7135 semapv:UnspecifiedMatching -DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor oboInOwl:hasDbXref UMLS_CUI:C0279980 semapv:UnspecifiedMatching +DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor oboInOwl:hasDbXref UMLS:C0279980 semapv:UnspecifiedMatching DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref ICD10CM:A80.4 semapv:UnspecifiedMatching DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref ICD9CM:045.2 semapv:UnspecifiedMatching -DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref UMLS_CUI:C0152998 semapv:UnspecifiedMatching +DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref UMLS:C0152998 semapv:UnspecifiedMatching DOID:4988 alcoholic pancreatitis oboInOwl:hasDbXref MESH:D019512 semapv:UnspecifiedMatching -DOID:4988 alcoholic pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0376670 semapv:UnspecifiedMatching +DOID:4988 alcoholic pancreatitis oboInOwl:hasDbXref UMLS:C0376670 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref EFO:0000278 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref ICD10CM:K85.9 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref MESH:D010195 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref NCI:C3306 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching -DOID:4989 pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0030305 semapv:UnspecifiedMatching +DOID:4989 pancreatitis oboInOwl:hasDbXref UMLS:C0030305 semapv:UnspecifiedMatching DOID:4989 pancreatitis skos:exactMatch OMIM:167800 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref GARD:5910 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref ICD10CM:G25.0 semapv:UnspecifiedMatching @@ -30976,75 +31289,75 @@ DOID:4990 essential tremor oboInOwl:hasDbXref MESH:D020329 semapv:UnspecifiedMat DOID:4990 essential tremor oboInOwl:hasDbXref NCI:C182453 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref OMIMPS:190300 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching -DOID:4990 essential tremor oboInOwl:hasDbXref UMLS_CUI:C0270736 semapv:UnspecifiedMatching +DOID:4990 essential tremor oboInOwl:hasDbXref UMLS:C0270736 semapv:UnspecifiedMatching DOID:4990 essential tremor skos:exactMatch OMIMPS:190300 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref NCI:C6769 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref NCI:C7533 semapv:UnspecifiedMatching -DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1335114 semapv:UnspecifiedMatching -DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1336971 semapv:UnspecifiedMatching +DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS:C1335114 semapv:UnspecifiedMatching +DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS:C1336971 semapv:UnspecifiedMatching DOID:4992 optic nerve glioma oboInOwl:hasDbXref GARD:4107 semapv:UnspecifiedMatching DOID:4992 optic nerve glioma oboInOwl:hasDbXref MESH:D020339 semapv:UnspecifiedMatching DOID:4992 optic nerve glioma oboInOwl:hasDbXref NCI:C4537 semapv:UnspecifiedMatching -DOID:4992 optic nerve glioma oboInOwl:hasDbXref UMLS_CUI:C0346326 semapv:UnspecifiedMatching +DOID:4992 optic nerve glioma oboInOwl:hasDbXref UMLS:C0346326 semapv:UnspecifiedMatching DOID:4993 atypical polypoid adenomyoma oboInOwl:hasDbXref NCI:C6895 semapv:UnspecifiedMatching -DOID:4993 atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1300347 semapv:UnspecifiedMatching +DOID:4993 atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS:C1300347 semapv:UnspecifiedMatching DOID:4994 adenomyoma of uterine corpus oboInOwl:hasDbXref NCI:C6338 semapv:UnspecifiedMatching -DOID:4994 adenomyoma of uterine corpus oboInOwl:hasDbXref UMLS_CUI:C1336903 semapv:UnspecifiedMatching +DOID:4994 adenomyoma of uterine corpus oboInOwl:hasDbXref UMLS:C1336903 semapv:UnspecifiedMatching DOID:4995 cervical adenomyoma oboInOwl:hasDbXref NCI:C40231 semapv:UnspecifiedMatching -DOID:4995 cervical adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1516404 semapv:UnspecifiedMatching +DOID:4995 cervical adenomyoma oboInOwl:hasDbXref UMLS:C1516404 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref GARD:1072 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10CM:Q78.3 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref MESH:D003966 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref NCI:C84610 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:606631 semapv:UnspecifiedMatching -DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS_CUI:C0011989 semapv:UnspecifiedMatching +DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS:C0011989 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref GARD:7801 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref NCI:C75118 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref OMIM:150230 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref ORDO:502 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref UMLS_CUI:C0023003 semapv:UnspecifiedMatching +DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref UMLS:C0023003 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II skos:exactMatch OMIM:150230 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref ICD10CM:E07.9 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref ICD9CM:246.9 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref MESH:D013959 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref NCI:C26893 semapv:UnspecifiedMatching -DOID:50 thyroid gland disease oboInOwl:hasDbXref UMLS_CUI:C0040128 semapv:UnspecifiedMatching +DOID:50 thyroid gland disease oboInOwl:hasDbXref UMLS:C0040128 semapv:UnspecifiedMatching DOID:5003 eunuchism oboInOwl:hasDbXref MESH:D005058 semapv:UnspecifiedMatching -DOID:5003 eunuchism oboInOwl:hasDbXref UMLS_CUI:C0238117 semapv:UnspecifiedMatching +DOID:5003 eunuchism oboInOwl:hasDbXref UMLS:C0238117 semapv:UnspecifiedMatching DOID:501 central nervous system hemangioma oboInOwl:hasDbXref NCI:C7004 semapv:UnspecifiedMatching -DOID:501 central nervous system hemangioma oboInOwl:hasDbXref UMLS_CUI:C1333957 semapv:UnspecifiedMatching +DOID:501 central nervous system hemangioma oboInOwl:hasDbXref UMLS:C1333957 semapv:UnspecifiedMatching DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref MESH:C537258 semapv:UnspecifiedMatching DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref NCI:C4131 semapv:UnspecifiedMatching DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref ORDO:401920 semapv:UnspecifiedMatching -DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334287 semapv:UnspecifiedMatching +DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref UMLS:C0334287 semapv:UnspecifiedMatching DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref ICDO:8174/3 semapv:UnspecifiedMatching DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref NCI:C5754 semapv:UnspecifiedMatching -DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266020 semapv:UnspecifiedMatching +DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref UMLS:C1266020 semapv:UnspecifiedMatching DOID:5022 aflatoxins-related hepatocellular carcinoma oboInOwl:hasDbXref NCI:C27922 semapv:UnspecifiedMatching -DOID:5022 aflatoxins-related hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332222 semapv:UnspecifiedMatching +DOID:5022 aflatoxins-related hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C1332222 semapv:UnspecifiedMatching DOID:5026 sclerosing hepatic carcinoma oboInOwl:hasDbXref NCI:C27388 semapv:UnspecifiedMatching -DOID:5026 sclerosing hepatic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266018 semapv:UnspecifiedMatching +DOID:5026 sclerosing hepatic carcinoma oboInOwl:hasDbXref UMLS:C1266018 semapv:UnspecifiedMatching DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICDO:9362/3 semapv:UnspecifiedMatching DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref NCI:C6967 semapv:UnspecifiedMatching -DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref UMLS_CUI:C1367859 semapv:UnspecifiedMatching +DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref UMLS:C1367859 semapv:UnspecifiedMatching DOID:5031 adult pineal parenchymal tumor oboInOwl:hasDbXref NCI:C8273 semapv:UnspecifiedMatching -DOID:5031 adult pineal parenchymal tumor oboInOwl:hasDbXref UMLS_CUI:C0280794 semapv:UnspecifiedMatching +DOID:5031 adult pineal parenchymal tumor oboInOwl:hasDbXref UMLS:C0280794 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref ICD10CM:C75.3 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref ICD9CM:194.4 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref MESH:D010871 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref NCI:C3328 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref NCI:C3573 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref NCI:C6965 semapv:UnspecifiedMatching -DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0031941 semapv:UnspecifiedMatching -DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153655 semapv:UnspecifiedMatching -DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C1412004 semapv:UnspecifiedMatching +DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS:C0031941 semapv:UnspecifiedMatching +DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS:C0153655 semapv:UnspecifiedMatching +DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS:C1412004 semapv:UnspecifiedMatching DOID:5039 myoblastoma oboInOwl:hasDbXref MESH:D009379 semapv:UnspecifiedMatching DOID:5039 myoblastoma oboInOwl:hasDbXref NCI:C3252 semapv:UnspecifiedMatching -DOID:5039 myoblastoma oboInOwl:hasDbXref UMLS_CUI:C0027043 semapv:UnspecifiedMatching +DOID:5039 myoblastoma oboInOwl:hasDbXref UMLS:C0027043 semapv:UnspecifiedMatching DOID:5040 malignant granular cell esophageal tumor oboInOwl:hasDbXref NCI:C5700 semapv:UnspecifiedMatching -DOID:5040 malignant granular cell esophageal tumor oboInOwl:hasDbXref UMLS_CUI:C1333448 semapv:UnspecifiedMatching +DOID:5040 malignant granular cell esophageal tumor oboInOwl:hasDbXref UMLS:C1333448 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref GARD:6383 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.3 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.4 semapv:UnspecifiedMatching @@ -31061,595 +31374,595 @@ DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3534 semapv:UnspecifiedMatch DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3535 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C4764 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref OMIM:133239 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0014859 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0153413 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0153414 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0153415 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0153416 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0496775 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0014859 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153413 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153414 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153415 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153416 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0496775 semapv:UnspecifiedMatching DOID:5041 esophageal cancer skos:exactMatch OMIM:133239 semapv:UnspecifiedMatching DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref NCI:C4336 semapv:UnspecifiedMatching -DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref UMLS_CUI:C0334618 semapv:UnspecifiedMatching +DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref UMLS:C0334618 semapv:UnspecifiedMatching DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref NCI:C40328 semapv:UnspecifiedMatching -DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1520083 semapv:UnspecifiedMatching +DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref UMLS:C1520083 semapv:UnspecifiedMatching DOID:5044 cardiac granular cell neoplasm oboInOwl:hasDbXref NCI:C5360 semapv:UnspecifiedMatching -DOID:5044 cardiac granular cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332845 semapv:UnspecifiedMatching +DOID:5044 cardiac granular cell neoplasm oboInOwl:hasDbXref UMLS:C1332845 semapv:UnspecifiedMatching DOID:5046 mediastinal granular cell myoblastoma oboInOwl:hasDbXref NCI:C6601 semapv:UnspecifiedMatching -DOID:5046 mediastinal granular cell myoblastoma oboInOwl:hasDbXref UMLS_CUI:C1334656 semapv:UnspecifiedMatching +DOID:5046 mediastinal granular cell myoblastoma oboInOwl:hasDbXref UMLS:C1334656 semapv:UnspecifiedMatching DOID:5047 granular cell tumor of the sellar region oboInOwl:hasDbXref NCI:C7017 semapv:UnspecifiedMatching -DOID:5047 granular cell tumor of the sellar region oboInOwl:hasDbXref UMLS_CUI:C1333873 semapv:UnspecifiedMatching +DOID:5047 granular cell tumor of the sellar region oboInOwl:hasDbXref UMLS:C1333873 semapv:UnspecifiedMatching DOID:5048 posterior pituitary gland neoplasm oboInOwl:hasDbXref NCI:C7157 semapv:UnspecifiedMatching -DOID:5048 posterior pituitary gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334957 semapv:UnspecifiedMatching +DOID:5048 posterior pituitary gland neoplasm oboInOwl:hasDbXref UMLS:C1334957 semapv:UnspecifiedMatching DOID:5050 Ehrlich tumor carcinoma oboInOwl:hasDbXref MESH:D002286 semapv:UnspecifiedMatching -DOID:5050 Ehrlich tumor carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007125 semapv:UnspecifiedMatching +DOID:5050 Ehrlich tumor carcinoma oboInOwl:hasDbXref UMLS:C0007125 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref GARD:9546 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref ICD10CM:A24.9 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref ICD9CM:025 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref MESH:D008554 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref NCI:C128336 semapv:UnspecifiedMatching -DOID:5052 melioidosis oboInOwl:hasDbXref UMLS_CUI:C0025229 semapv:UnspecifiedMatching +DOID:5052 melioidosis oboInOwl:hasDbXref UMLS:C0025229 semapv:UnspecifiedMatching DOID:5056 adult cerebellar neoplasm oboInOwl:hasDbXref NCI:C5968 semapv:UnspecifiedMatching -DOID:5056 adult cerebellar neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332197 semapv:UnspecifiedMatching +DOID:5056 adult cerebellar neoplasm oboInOwl:hasDbXref UMLS:C1332197 semapv:UnspecifiedMatching DOID:5057 papillary meningioma of the cerebellum oboInOwl:hasDbXref NCI:C5270 semapv:UnspecifiedMatching -DOID:5057 papillary meningioma of the cerebellum oboInOwl:hasDbXref UMLS_CUI:C1332902 semapv:UnspecifiedMatching +DOID:5057 papillary meningioma of the cerebellum oboInOwl:hasDbXref UMLS:C1332902 semapv:UnspecifiedMatching DOID:5058 rhabdoid meningioma oboInOwl:hasDbXref NCI:C6909 semapv:UnspecifiedMatching -DOID:5058 rhabdoid meningioma oboInOwl:hasDbXref UMLS_CUI:C0259786 semapv:UnspecifiedMatching +DOID:5058 rhabdoid meningioma oboInOwl:hasDbXref UMLS:C0259786 semapv:UnspecifiedMatching DOID:5059 childhood cerebellar neoplasm oboInOwl:hasDbXref NCI:C5970 semapv:UnspecifiedMatching -DOID:5059 childhood cerebellar neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332959 semapv:UnspecifiedMatching +DOID:5059 childhood cerebellar neoplasm oboInOwl:hasDbXref UMLS:C1332959 semapv:UnspecifiedMatching DOID:5062 phencyclidine abuse oboInOwl:hasDbXref MESH:D010623 semapv:UnspecifiedMatching -DOID:5062 phencyclidine abuse oboInOwl:hasDbXref UMLS_CUI:C0031391 semapv:UnspecifiedMatching +DOID:5062 phencyclidine abuse oboInOwl:hasDbXref UMLS:C0031391 semapv:UnspecifiedMatching DOID:5063 basosquamous carcinoma oboInOwl:hasDbXref ICDO:8094/3 semapv:UnspecifiedMatching DOID:5063 basosquamous carcinoma oboInOwl:hasDbXref MESH:D002281 semapv:UnspecifiedMatching DOID:5063 basosquamous carcinoma oboInOwl:hasDbXref NCI:C2922 semapv:UnspecifiedMatching -DOID:5063 basosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007118 semapv:UnspecifiedMatching +DOID:5063 basosquamous carcinoma oboInOwl:hasDbXref UMLS:C0007118 semapv:UnspecifiedMatching DOID:507 adjustment disorder oboInOwl:hasDbXref ICD9CM:309 semapv:UnspecifiedMatching -DOID:507 adjustment disorder oboInOwl:hasDbXref UMLS_CUI:C0040701 semapv:UnspecifiedMatching +DOID:507 adjustment disorder oboInOwl:hasDbXref UMLS:C0040701 semapv:UnspecifiedMatching DOID:5074 high grade ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:UnspecifiedMatching DOID:5074 high grade ependymoma oboInOwl:hasDbXref NCI:C6770 semapv:UnspecifiedMatching -DOID:5074 high grade ependymoma oboInOwl:hasDbXref UMLS_CUI:C1333407 semapv:UnspecifiedMatching +DOID:5074 high grade ependymoma oboInOwl:hasDbXref UMLS:C1333407 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref GARD:10633 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref ICDO:9394/1 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref NCI:C3697 semapv:UnspecifiedMatching -DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref UMLS_CUI:C0205769 semapv:UnspecifiedMatching +DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref UMLS:C0205769 semapv:UnspecifiedMatching DOID:5076 mixed glioma oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching DOID:5076 mixed glioma oboInOwl:hasDbXref NCI:C3903 semapv:UnspecifiedMatching -DOID:5076 mixed glioma oboInOwl:hasDbXref UMLS_CUI:C0259783 semapv:UnspecifiedMatching +DOID:5076 mixed glioma oboInOwl:hasDbXref UMLS:C0259783 semapv:UnspecifiedMatching DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref GARD:10632 semapv:UnspecifiedMatching DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref ICDO:9384/1 semapv:UnspecifiedMatching DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref NCI:C3696 semapv:UnspecifiedMatching -DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0205768 semapv:UnspecifiedMatching +DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS:C0205768 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref GARD:2430 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref ICDO:9505/1 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref MESH:D018303 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C27362 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C27363 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C3788 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C0206716 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C1332202 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C1332969 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS:C0206716 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS:C1332202 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS:C1332969 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref EFO:0001422 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref ICD10CM:K74.60 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref MESH:D008103 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref NCI:C2951 semapv:UnspecifiedMatching -DOID:5082 liver cirrhosis oboInOwl:hasDbXref UMLS_CUI:C0023890 semapv:UnspecifiedMatching +DOID:5082 liver cirrhosis oboInOwl:hasDbXref UMLS:C0023890 semapv:UnspecifiedMatching DOID:5083 iodine hypothyroidism oboInOwl:hasDbXref ICD9CM:244.2 semapv:UnspecifiedMatching -DOID:5083 iodine hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0154159 semapv:UnspecifiedMatching +DOID:5083 iodine hypothyroidism oboInOwl:hasDbXref UMLS:C0154159 semapv:UnspecifiedMatching DOID:5088 mixed epithelial stromal tumour oboInOwl:hasDbXref NCI:C37265 semapv:UnspecifiedMatching -DOID:5088 mixed epithelial stromal tumour oboInOwl:hasDbXref UMLS_CUI:C1334602 semapv:UnspecifiedMatching +DOID:5088 mixed epithelial stromal tumour oboInOwl:hasDbXref UMLS:C1334602 semapv:UnspecifiedMatching DOID:5090 sternum cancer oboInOwl:hasDbXref NCI:C6730 semapv:UnspecifiedMatching DOID:5090 sternum cancer oboInOwl:hasDbXref NCI:C8408 semapv:UnspecifiedMatching -DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS_CUI:C1290244 semapv:UnspecifiedMatching -DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS_CUI:C1382025 semapv:UnspecifiedMatching +DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS:C1290244 semapv:UnspecifiedMatching +DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS:C1382025 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref ICD10CM:C76.1 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref ICD9CM:195.1 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref MESH:D013899 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref NCI:C3406 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref NCI:C3576 semapv:UnspecifiedMatching -DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS_CUI:C0039981 semapv:UnspecifiedMatching -DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS_CUI:C0153661 semapv:UnspecifiedMatching +DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS:C0039981 semapv:UnspecifiedMatching +DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS:C0153661 semapv:UnspecifiedMatching DOID:5099 middle ear cancer oboInOwl:hasDbXref NCI:C4412 semapv:UnspecifiedMatching -DOID:5099 middle ear cancer oboInOwl:hasDbXref UMLS_CUI:C0345617 semapv:UnspecifiedMatching +DOID:5099 middle ear cancer oboInOwl:hasDbXref UMLS:C0345617 semapv:UnspecifiedMatching DOID:5100 middle ear disease oboInOwl:hasDbXref NCI:C27065 semapv:UnspecifiedMatching -DOID:5100 middle ear disease oboInOwl:hasDbXref UMLS_CUI:C0271428 semapv:UnspecifiedMatching +DOID:5100 middle ear disease oboInOwl:hasDbXref UMLS:C0271428 semapv:UnspecifiedMatching DOID:5101 ear cancer oboInOwl:hasDbXref MESH:D004428 semapv:UnspecifiedMatching -DOID:5101 ear cancer oboInOwl:hasDbXref UMLS_CUI:C0751094 semapv:UnspecifiedMatching +DOID:5101 ear cancer oboInOwl:hasDbXref UMLS:C0751094 semapv:UnspecifiedMatching DOID:5102 inner ear cancer oboInOwl:hasDbXref NCI:C39784 semapv:UnspecifiedMatching -DOID:5102 inner ear cancer oboInOwl:hasDbXref UMLS_CUI:C1512779 semapv:UnspecifiedMatching +DOID:5102 inner ear cancer oboInOwl:hasDbXref UMLS:C1512779 semapv:UnspecifiedMatching DOID:5104 testicular infarct oboInOwl:hasDbXref NCI:C27617 semapv:UnspecifiedMatching -DOID:5104 testicular infarct oboInOwl:hasDbXref UMLS_CUI:C0392041 semapv:UnspecifiedMatching +DOID:5104 testicular infarct oboInOwl:hasDbXref UMLS:C0392041 semapv:UnspecifiedMatching DOID:5112 copper deficiency myelopathy oboInOwl:hasDbXref MESH:D013540 semapv:UnspecifiedMatching -DOID:5112 copper deficiency myelopathy oboInOwl:hasDbXref UMLS_CUI:C0038981 semapv:UnspecifiedMatching +DOID:5112 copper deficiency myelopathy oboInOwl:hasDbXref UMLS:C0038981 semapv:UnspecifiedMatching DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref MESH:D003677 semapv:UnspecifiedMatching -DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0011156 semapv:UnspecifiedMatching +DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref UMLS:C0011156 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref MESH:C562731 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref NCI:C3856 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref OMIM:166950 semapv:UnspecifiedMatching -DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref UMLS_CUI:C0237020 semapv:UnspecifiedMatching +DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref UMLS:C0237020 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary skos:exactMatch OMIM:166950 semapv:UnspecifiedMatching DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref NCI:C7283 semapv:UnspecifiedMatching -DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref UMLS_CUI:C1335155 semapv:UnspecifiedMatching +DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref UMLS:C1335155 semapv:UnspecifiedMatching DOID:5119 ovarian cyst oboInOwl:hasDbXref ICD10CM:N83.2 semapv:UnspecifiedMatching DOID:5119 ovarian cyst oboInOwl:hasDbXref ICD9CM:620.2 semapv:UnspecifiedMatching -DOID:5119 ovarian cyst oboInOwl:hasDbXref UMLS_CUI:C0029513 semapv:UnspecifiedMatching +DOID:5119 ovarian cyst oboInOwl:hasDbXref UMLS:C0029513 semapv:UnspecifiedMatching DOID:512 epididymal neoplasm oboInOwl:hasDbXref NCI:C39958 semapv:UnspecifiedMatching -DOID:512 epididymal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346239 semapv:UnspecifiedMatching +DOID:512 epididymal neoplasm oboInOwl:hasDbXref UMLS:C0346239 semapv:UnspecifiedMatching DOID:5123 mediastinum leiomyoma oboInOwl:hasDbXref NCI:C6598 semapv:UnspecifiedMatching -DOID:5123 mediastinum leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334659 semapv:UnspecifiedMatching +DOID:5123 mediastinum leiomyoma oboInOwl:hasDbXref UMLS:C1334659 semapv:UnspecifiedMatching DOID:5124 fallopian tube leiomyoma oboInOwl:hasDbXref NCI:C40127 semapv:UnspecifiedMatching -DOID:5124 fallopian tube leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1517115 semapv:UnspecifiedMatching +DOID:5124 fallopian tube leiomyoma oboInOwl:hasDbXref UMLS:C1517115 semapv:UnspecifiedMatching DOID:5125 extrahepatic bile duct leiomyoma oboInOwl:hasDbXref NCI:C5855 semapv:UnspecifiedMatching -DOID:5125 extrahepatic bile duct leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333507 semapv:UnspecifiedMatching +DOID:5125 extrahepatic bile duct leiomyoma oboInOwl:hasDbXref UMLS:C1333507 semapv:UnspecifiedMatching DOID:5126 central nervous system leiomyoma oboInOwl:hasDbXref NCI:C6998 semapv:UnspecifiedMatching -DOID:5126 central nervous system leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334382 semapv:UnspecifiedMatching +DOID:5126 central nervous system leiomyoma oboInOwl:hasDbXref UMLS:C1334382 semapv:UnspecifiedMatching DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref ICDO:8893/0 semapv:UnspecifiedMatching DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref NCI:C4257 semapv:UnspecifiedMatching -DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334478 semapv:UnspecifiedMatching +DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref UMLS:C0334478 semapv:UnspecifiedMatching DOID:5128 deep leiomyoma oboInOwl:hasDbXref NCI:C6512 semapv:UnspecifiedMatching -DOID:5128 deep leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333266 semapv:UnspecifiedMatching +DOID:5128 deep leiomyoma oboInOwl:hasDbXref UMLS:C1333266 semapv:UnspecifiedMatching DOID:5129 simple partial epilepsy oboInOwl:hasDbXref ICD9CM:345.51 semapv:UnspecifiedMatching -DOID:5129 simple partial epilepsy oboInOwl:hasDbXref UMLS_CUI:C0154712 semapv:UnspecifiedMatching +DOID:5129 simple partial epilepsy oboInOwl:hasDbXref UMLS:C0154712 semapv:UnspecifiedMatching DOID:5132 leiomyoma cutis oboInOwl:hasDbXref NCI:C4482 semapv:UnspecifiedMatching -DOID:5132 leiomyoma cutis oboInOwl:hasDbXref UMLS_CUI:C0346064 semapv:UnspecifiedMatching +DOID:5132 leiomyoma cutis oboInOwl:hasDbXref UMLS:C0346064 semapv:UnspecifiedMatching DOID:5134 anus leiomyoma oboInOwl:hasDbXref NCI:C5608 semapv:UnspecifiedMatching -DOID:5134 anus leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1332266 semapv:UnspecifiedMatching +DOID:5134 anus leiomyoma oboInOwl:hasDbXref UMLS:C1332266 semapv:UnspecifiedMatching DOID:5136 lung leiomyoma oboInOwl:hasDbXref NCI:C5660 semapv:UnspecifiedMatching -DOID:5136 lung leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334447 semapv:UnspecifiedMatching +DOID:5136 lung leiomyoma oboInOwl:hasDbXref UMLS:C1334447 semapv:UnspecifiedMatching DOID:5137 pericardium leiomyoma oboInOwl:hasDbXref NCI:C6743 semapv:UnspecifiedMatching -DOID:5137 pericardium leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335380 semapv:UnspecifiedMatching +DOID:5137 pericardium leiomyoma oboInOwl:hasDbXref UMLS:C1335380 semapv:UnspecifiedMatching DOID:5138 leiomyomatosis oboInOwl:hasDbXref ICDO:8890/1 semapv:UnspecifiedMatching DOID:5138 leiomyomatosis oboInOwl:hasDbXref MESH:D018231 semapv:UnspecifiedMatching DOID:5138 leiomyomatosis oboInOwl:hasDbXref NCI:C3748 semapv:UnspecifiedMatching -DOID:5138 leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0206654 semapv:UnspecifiedMatching +DOID:5138 leiomyomatosis oboInOwl:hasDbXref UMLS:C0206654 semapv:UnspecifiedMatching DOID:5139 cellular leiomyoma oboInOwl:hasDbXref ICDO:8892/0 semapv:UnspecifiedMatching DOID:5139 cellular leiomyoma oboInOwl:hasDbXref NCI:C4256 semapv:UnspecifiedMatching -DOID:5139 cellular leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334477 semapv:UnspecifiedMatching +DOID:5139 cellular leiomyoma oboInOwl:hasDbXref UMLS:C0334477 semapv:UnspecifiedMatching DOID:5140 gallbladder leiomyoma oboInOwl:hasDbXref NCI:C5747 semapv:UnspecifiedMatching -DOID:5140 gallbladder leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333745 semapv:UnspecifiedMatching +DOID:5140 gallbladder leiomyoma oboInOwl:hasDbXref UMLS:C1333745 semapv:UnspecifiedMatching DOID:5142 vulvar leiomyoma oboInOwl:hasDbXref NCI:C40326 semapv:UnspecifiedMatching -DOID:5142 vulvar leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1520087 semapv:UnspecifiedMatching +DOID:5142 vulvar leiomyoma oboInOwl:hasDbXref UMLS:C1520087 semapv:UnspecifiedMatching DOID:5143 large bowel leiomyoma oboInOwl:hasDbXref NCI:C5677 semapv:UnspecifiedMatching -DOID:5143 large bowel leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333113 semapv:UnspecifiedMatching +DOID:5143 large bowel leiomyoma oboInOwl:hasDbXref UMLS:C1333113 semapv:UnspecifiedMatching DOID:5146 appendix leiomyoma oboInOwl:hasDbXref NCI:C5514 semapv:UnspecifiedMatching -DOID:5146 appendix leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1332327 semapv:UnspecifiedMatching +DOID:5146 appendix leiomyoma oboInOwl:hasDbXref UMLS:C1332327 semapv:UnspecifiedMatching DOID:5147 dartoic leiomyoma oboInOwl:hasDbXref NCI:C4483 semapv:UnspecifiedMatching -DOID:5147 dartoic leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0346066 semapv:UnspecifiedMatching +DOID:5147 dartoic leiomyoma oboInOwl:hasDbXref UMLS:C0346066 semapv:UnspecifiedMatching DOID:5149 epithelioid neurofibroma oboInOwl:hasDbXref NCI:C6558 semapv:UnspecifiedMatching -DOID:5149 epithelioid neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1275264 semapv:UnspecifiedMatching +DOID:5149 epithelioid neurofibroma oboInOwl:hasDbXref UMLS:C1275264 semapv:UnspecifiedMatching DOID:5150 neurofibroma of gallbladder oboInOwl:hasDbXref NCI:C5746 semapv:UnspecifiedMatching -DOID:5150 neurofibroma of gallbladder oboInOwl:hasDbXref UMLS_CUI:C1333751 semapv:UnspecifiedMatching +DOID:5150 neurofibroma of gallbladder oboInOwl:hasDbXref UMLS:C1333751 semapv:UnspecifiedMatching DOID:5151 plexiform neurofibroma oboInOwl:hasDbXref ICDO:9550/0 semapv:UnspecifiedMatching DOID:5151 plexiform neurofibroma oboInOwl:hasDbXref MESH:D018318 semapv:UnspecifiedMatching DOID:5151 plexiform neurofibroma oboInOwl:hasDbXref NCI:C3797 semapv:UnspecifiedMatching -DOID:5151 plexiform neurofibroma oboInOwl:hasDbXref UMLS_CUI:C0206728 semapv:UnspecifiedMatching +DOID:5151 plexiform neurofibroma oboInOwl:hasDbXref UMLS:C0206728 semapv:UnspecifiedMatching DOID:5152 cellular neurofibroma oboInOwl:hasDbXref NCI:C41427 semapv:UnspecifiedMatching -DOID:5152 cellular neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1516371 semapv:UnspecifiedMatching -DOID:5153 atypical neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1510961 semapv:UnspecifiedMatching +DOID:5152 cellular neurofibroma oboInOwl:hasDbXref UMLS:C1516371 semapv:UnspecifiedMatching +DOID:5153 atypical neurofibroma oboInOwl:hasDbXref UMLS:C1510961 semapv:UnspecifiedMatching DOID:5154 borna disease oboInOwl:hasDbXref MESH:D001890 semapv:UnspecifiedMatching -DOID:5154 borna disease oboInOwl:hasDbXref UMLS_CUI:C0006023 semapv:UnspecifiedMatching +DOID:5154 borna disease oboInOwl:hasDbXref UMLS:C0006023 semapv:UnspecifiedMatching DOID:5154 borna disease skos:exactMatch MESH:D001890 semapv:UnspecifiedMatching DOID:5155 multiple mucosal neuroma oboInOwl:hasDbXref NCI:C6559 semapv:UnspecifiedMatching -DOID:5155 multiple mucosal neuroma oboInOwl:hasDbXref UMLS_CUI:C1334828 semapv:UnspecifiedMatching +DOID:5155 multiple mucosal neuroma oboInOwl:hasDbXref UMLS:C1334828 semapv:UnspecifiedMatching DOID:5157 benign pleural mesothelioma oboInOwl:hasDbXref NCI:C9351 semapv:UnspecifiedMatching -DOID:5157 benign pleural mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1377913 semapv:UnspecifiedMatching +DOID:5157 benign pleural mesothelioma oboInOwl:hasDbXref UMLS:C1377913 semapv:UnspecifiedMatching DOID:5158 pleural cancer oboInOwl:hasDbXref ICD10CM:C38.4 semapv:UnspecifiedMatching DOID:5158 pleural cancer oboInOwl:hasDbXref ICD9CM:163 semapv:UnspecifiedMatching DOID:5158 pleural cancer oboInOwl:hasDbXref MESH:D010997 semapv:UnspecifiedMatching DOID:5158 pleural cancer oboInOwl:hasDbXref NCI:C3332 semapv:UnspecifiedMatching DOID:5158 pleural cancer oboInOwl:hasDbXref NCI:C3547 semapv:UnspecifiedMatching -DOID:5158 pleural cancer oboInOwl:hasDbXref UMLS_CUI:C0032229 semapv:UnspecifiedMatching -DOID:5158 pleural cancer oboInOwl:hasDbXref UMLS_CUI:C0153494 semapv:UnspecifiedMatching +DOID:5158 pleural cancer oboInOwl:hasDbXref UMLS:C0032229 semapv:UnspecifiedMatching +DOID:5158 pleural cancer oboInOwl:hasDbXref UMLS:C0153494 semapv:UnspecifiedMatching DOID:5160 arteriosclerosis obliterans oboInOwl:hasDbXref MESH:D001162 semapv:UnspecifiedMatching -DOID:5160 arteriosclerosis obliterans oboInOwl:hasDbXref UMLS_CUI:C0003851 semapv:UnspecifiedMatching +DOID:5160 arteriosclerosis obliterans oboInOwl:hasDbXref UMLS:C0003851 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis oboInOwl:hasDbXref MESH:D050379 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis oboInOwl:hasDbXref NCI:C35543 semapv:UnspecifiedMatching -DOID:5162 arteriolosclerosis oboInOwl:hasDbXref UMLS_CUI:C0878486 semapv:UnspecifiedMatching +DOID:5162 arteriolosclerosis oboInOwl:hasDbXref UMLS:C0878486 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis skos:exactMatch MESH:D050379 semapv:UnspecifiedMatching DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref GARD:9383 semapv:UnspecifiedMatching DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref NCI:C6339 semapv:UnspecifiedMatching -DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref UMLS_CUI:C0338113 semapv:UnspecifiedMatching +DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref UMLS:C0338113 semapv:UnspecifiedMatching DOID:5166 endometrial stromal tumor oboInOwl:hasDbXref MESH:D036821 semapv:UnspecifiedMatching -DOID:5166 endometrial stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0334695 semapv:UnspecifiedMatching +DOID:5166 endometrial stromal tumor oboInOwl:hasDbXref UMLS:C0334695 semapv:UnspecifiedMatching DOID:5169 ovarian endometrioid stromal sarcoma oboInOwl:hasDbXref NCI:C40065 semapv:UnspecifiedMatching -DOID:5169 ovarian endometrioid stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C4288544 semapv:UnspecifiedMatching +DOID:5169 ovarian endometrioid stromal sarcoma oboInOwl:hasDbXref UMLS:C4288544 semapv:UnspecifiedMatching DOID:5170 vaginal endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40270 semapv:UnspecifiedMatching -DOID:5170 vaginal endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C3642329 semapv:UnspecifiedMatching +DOID:5170 vaginal endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C3642329 semapv:UnspecifiedMatching DOID:5171 vaginal endometrial stromal tumor oboInOwl:hasDbXref NCI:C40269 semapv:UnspecifiedMatching -DOID:5171 vaginal endometrial stromal tumor oboInOwl:hasDbXref UMLS_CUI:C4289585 semapv:UnspecifiedMatching +DOID:5171 vaginal endometrial stromal tumor oboInOwl:hasDbXref UMLS:C4289585 semapv:UnspecifiedMatching DOID:5172 endometrium carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.0 semapv:UnspecifiedMatching -DOID:5172 endometrium carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0346191 semapv:UnspecifiedMatching +DOID:5172 endometrium carcinoma in situ oboInOwl:hasDbXref UMLS:C0346191 semapv:UnspecifiedMatching DOID:5176 renal Wilms' tumor oboInOwl:hasDbXref NCI:C6951 semapv:UnspecifiedMatching -DOID:5176 renal Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1335062 semapv:UnspecifiedMatching +DOID:5176 renal Wilms' tumor oboInOwl:hasDbXref UMLS:C1335062 semapv:UnspecifiedMatching DOID:5178 metachronous kidney Wilms' tumor oboInOwl:hasDbXref NCI:C38158 semapv:UnspecifiedMatching -DOID:5178 metachronous kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1334705 semapv:UnspecifiedMatching +DOID:5178 metachronous kidney Wilms' tumor oboInOwl:hasDbXref UMLS:C1334705 semapv:UnspecifiedMatching DOID:5179 mixed cell type kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9149 semapv:UnspecifiedMatching -DOID:5179 mixed cell type kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279611 semapv:UnspecifiedMatching +DOID:5179 mixed cell type kidney Wilms' tumor oboInOwl:hasDbXref UMLS:C0279611 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref ICD10CM:C63.2 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref ICD9CM:187.7 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref NCI:C3560 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref NCI:C4380 semapv:UnspecifiedMatching -DOID:518 scrotum neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153604 semapv:UnspecifiedMatching -DOID:518 scrotum neoplasm oboInOwl:hasDbXref UMLS_CUI:C0341790 semapv:UnspecifiedMatching +DOID:518 scrotum neoplasm oboInOwl:hasDbXref UMLS:C0153604 semapv:UnspecifiedMatching +DOID:518 scrotum neoplasm oboInOwl:hasDbXref UMLS:C0341790 semapv:UnspecifiedMatching DOID:5182 blastema predominant kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9147 semapv:UnspecifiedMatching -DOID:5182 blastema predominant kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279609 semapv:UnspecifiedMatching +DOID:5182 blastema predominant kidney Wilms' tumor oboInOwl:hasDbXref UMLS:C0279609 semapv:UnspecifiedMatching DOID:5183 hereditary Wilms' tumor oboInOwl:hasDbXref NCI:C8496 semapv:UnspecifiedMatching -DOID:5183 hereditary Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0677779 semapv:UnspecifiedMatching +DOID:5183 hereditary Wilms' tumor oboInOwl:hasDbXref UMLS:C0677779 semapv:UnspecifiedMatching DOID:5189 epithelial predominant Wilms' tumor oboInOwl:hasDbXref NCI:C9146 semapv:UnspecifiedMatching -DOID:5189 epithelial predominant Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279608 semapv:UnspecifiedMatching +DOID:5189 epithelial predominant Wilms' tumor oboInOwl:hasDbXref UMLS:C0279608 semapv:UnspecifiedMatching DOID:519 aortitis oboInOwl:hasDbXref ICD10CM:I77.6 semapv:UnspecifiedMatching DOID:519 aortitis oboInOwl:hasDbXref MESH:D001025 semapv:UnspecifiedMatching DOID:519 aortitis oboInOwl:hasDbXref NCI:C97085 semapv:UnspecifiedMatching -DOID:519 aortitis oboInOwl:hasDbXref UMLS_CUI:C0003509 semapv:UnspecifiedMatching +DOID:519 aortitis oboInOwl:hasDbXref UMLS:C0003509 semapv:UnspecifiedMatching DOID:5190 cervical Wilms' tumor oboInOwl:hasDbXref NCI:C40236 semapv:UnspecifiedMatching -DOID:5190 cervical Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1516437 semapv:UnspecifiedMatching +DOID:5190 cervical Wilms' tumor oboInOwl:hasDbXref UMLS:C1516437 semapv:UnspecifiedMatching DOID:5191 stromal predominant kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9148 semapv:UnspecifiedMatching -DOID:5191 stromal predominant kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279610 semapv:UnspecifiedMatching +DOID:5191 stromal predominant kidney Wilms' tumor oboInOwl:hasDbXref UMLS:C0279610 semapv:UnspecifiedMatching DOID:5193 nodular ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42058 semapv:UnspecifiedMatching -DOID:5193 nodular ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1517445 semapv:UnspecifiedMatching +DOID:5193 nodular ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1517445 semapv:UnspecifiedMatching DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42057 semapv:UnspecifiedMatching -DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1517444 semapv:UnspecifiedMatching +DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1517444 semapv:UnspecifiedMatching DOID:5195 peripheral nervous system ganglioneuroblastoma oboInOwl:hasDbXref NCI:C6594 semapv:UnspecifiedMatching -DOID:5195 peripheral nervous system ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1335387 semapv:UnspecifiedMatching +DOID:5195 peripheral nervous system ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1335387 semapv:UnspecifiedMatching DOID:5196 fallopian tube adenomatoid tumor oboInOwl:hasDbXref NCI:C40129 semapv:UnspecifiedMatching -DOID:5196 fallopian tube adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C1517110 semapv:UnspecifiedMatching +DOID:5196 fallopian tube adenomatoid tumor oboInOwl:hasDbXref UMLS:C1517110 semapv:UnspecifiedMatching DOID:5199 ureteral obstruction oboInOwl:hasDbXref ICD9CM:593.4 semapv:UnspecifiedMatching -DOID:5199 ureteral obstruction oboInOwl:hasDbXref UMLS_CUI:C0029866 semapv:UnspecifiedMatching +DOID:5199 ureteral obstruction oboInOwl:hasDbXref UMLS:C0029866 semapv:UnspecifiedMatching DOID:520 aortic disease oboInOwl:hasDbXref MESH:D001018 semapv:UnspecifiedMatching DOID:520 aortic disease oboInOwl:hasDbXref NCI:C101253 semapv:UnspecifiedMatching -DOID:520 aortic disease oboInOwl:hasDbXref UMLS_CUI:C0003493 semapv:UnspecifiedMatching +DOID:520 aortic disease oboInOwl:hasDbXref UMLS:C0003493 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref ICD10CM:N13.9 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref ICD9CM:599.6 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref NCI:C79805 semapv:UnspecifiedMatching -DOID:5200 urinary tract obstruction oboInOwl:hasDbXref UMLS_CUI:C0178879 semapv:UnspecifiedMatching +DOID:5200 urinary tract obstruction oboInOwl:hasDbXref UMLS:C0178879 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref GARD:2400 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10CM:E74.19 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MESH:D015319 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref NCI:C128119 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS_CUI:C0016756 semapv:UnspecifiedMatching +DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS:C0016756 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency skos:exactMatch OMIM:229700 semapv:UnspecifiedMatching DOID:5207 monodermal teratoma oboInOwl:hasDbXref NCI:C7286 semapv:UnspecifiedMatching -DOID:5207 monodermal teratoma oboInOwl:hasDbXref UMLS_CUI:C1302569 semapv:UnspecifiedMatching +DOID:5207 monodermal teratoma oboInOwl:hasDbXref UMLS:C1302569 semapv:UnspecifiedMatching DOID:5208 malignant struma ovarii oboInOwl:hasDbXref NCI:C4291 semapv:UnspecifiedMatching -DOID:5208 malignant struma ovarii oboInOwl:hasDbXref UMLS_CUI:C0334525 semapv:UnspecifiedMatching +DOID:5208 malignant struma ovarii oboInOwl:hasDbXref UMLS:C0334525 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref GARD:10307 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref MESH:D018981 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref NCI:C84615 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref ORDO:137 semapv:UnspecifiedMatching -DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref UMLS_CUI:C0282577 semapv:UnspecifiedMatching +DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref UMLS:C0282577 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref GARD:6102 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10CM:G61.81 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD9CM:357.81 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref MESH:D020277 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref NCI:C84636 semapv:UnspecifiedMatching -DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS_CUI:C0393819 semapv:UnspecifiedMatching +DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C0393819 semapv:UnspecifiedMatching DOID:5214 demyelinating polyneuropathy oboInOwl:hasDbXref NCI:C27062 semapv:UnspecifiedMatching -DOID:5214 demyelinating polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0270922 semapv:UnspecifiedMatching +DOID:5214 demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0270922 semapv:UnspecifiedMatching DOID:5221 chronic polyneuropathy oboInOwl:hasDbXref NCI:C36071 semapv:UnspecifiedMatching -DOID:5221 chronic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1167650 semapv:UnspecifiedMatching +DOID:5221 chronic polyneuropathy oboInOwl:hasDbXref UMLS:C1167650 semapv:UnspecifiedMatching DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref MESH:D004684 semapv:UnspecifiedMatching DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref NCI:C35383 semapv:UnspecifiedMatching -DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref UMLS_CUI:C0338418 semapv:UnspecifiedMatching +DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref UMLS:C0338418 semapv:UnspecifiedMatching DOID:5223 infertility oboInOwl:hasDbXref MESH:D007246 semapv:UnspecifiedMatching DOID:5223 infertility oboInOwl:hasDbXref NCI:C3836 semapv:UnspecifiedMatching -DOID:5223 infertility oboInOwl:hasDbXref UMLS_CUI:C0021359 semapv:UnspecifiedMatching +DOID:5223 infertility oboInOwl:hasDbXref UMLS:C0021359 semapv:UnspecifiedMatching DOID:5224 acute hemorrhagic encephalitis oboInOwl:hasDbXref NCI:C35796 semapv:UnspecifiedMatching -DOID:5224 acute hemorrhagic encephalitis oboInOwl:hasDbXref UMLS_CUI:C1332149 semapv:UnspecifiedMatching +DOID:5224 acute hemorrhagic encephalitis oboInOwl:hasDbXref UMLS:C1332149 semapv:UnspecifiedMatching DOID:5225 von Economo's disease oboInOwl:hasDbXref ICD10CM:A85.8 semapv:UnspecifiedMatching DOID:5225 von Economo's disease oboInOwl:hasDbXref NCI:C26761 semapv:UnspecifiedMatching -DOID:5225 von Economo's disease oboInOwl:hasDbXref UMLS_CUI:C0014040 semapv:UnspecifiedMatching +DOID:5225 von Economo's disease oboInOwl:hasDbXref UMLS:C0014040 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref GARD:6169 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref NCI:C84754 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref ORDO:95159 semapv:UnspecifiedMatching -DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS_CUI:C0162569 semapv:UnspecifiedMatching +DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162569 semapv:UnspecifiedMatching DOID:5232 aortic valve prolapse oboInOwl:hasDbXref MESH:D001023 semapv:UnspecifiedMatching -DOID:5232 aortic valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0003505 semapv:UnspecifiedMatching +DOID:5232 aortic valve prolapse oboInOwl:hasDbXref UMLS:C0003505 semapv:UnspecifiedMatching DOID:5233 glomangiosarcoma oboInOwl:hasDbXref ICDO:8710/3 semapv:UnspecifiedMatching DOID:5233 glomangiosarcoma oboInOwl:hasDbXref NCI:C4221 semapv:UnspecifiedMatching -DOID:5233 glomangiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266111 semapv:UnspecifiedMatching +DOID:5233 glomangiosarcoma oboInOwl:hasDbXref UMLS:C1266111 semapv:UnspecifiedMatching DOID:5236 subungual glomus tumor oboInOwl:hasDbXref NCI:C36079 semapv:UnspecifiedMatching -DOID:5236 subungual glomus tumor oboInOwl:hasDbXref UMLS_CUI:C1304510 semapv:UnspecifiedMatching +DOID:5236 subungual glomus tumor oboInOwl:hasDbXref UMLS:C1304510 semapv:UnspecifiedMatching DOID:5238 benign perivascular tumor oboInOwl:hasDbXref NCI:C6529 semapv:UnspecifiedMatching -DOID:5238 benign perivascular tumor oboInOwl:hasDbXref UMLS_CUI:C1332532 semapv:UnspecifiedMatching +DOID:5238 benign perivascular tumor oboInOwl:hasDbXref UMLS:C1332532 semapv:UnspecifiedMatching DOID:5240 retinal hemangioblastoma oboInOwl:hasDbXref NCI:C39783 semapv:UnspecifiedMatching -DOID:5240 retinal hemangioblastoma oboInOwl:hasDbXref UMLS_CUI:C0730303 semapv:UnspecifiedMatching +DOID:5240 retinal hemangioblastoma oboInOwl:hasDbXref UMLS:C0730303 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref GARD:8232 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref GARD:8522 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref ICDO:9161/1 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref MESH:D018325 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref NCI:C3801 semapv:UnspecifiedMatching -DOID:5241 hemangioblastoma oboInOwl:hasDbXref UMLS_CUI:C0206734 semapv:UnspecifiedMatching +DOID:5241 hemangioblastoma oboInOwl:hasDbXref UMLS:C0206734 semapv:UnspecifiedMatching DOID:525 central nervous system vasculitis oboInOwl:hasDbXref MESH:D020293 semapv:UnspecifiedMatching DOID:525 central nervous system vasculitis oboInOwl:hasDbXref NCI:C84622 semapv:UnspecifiedMatching -DOID:525 central nervous system vasculitis oboInOwl:hasDbXref UMLS_CUI:C0751878 semapv:UnspecifiedMatching +DOID:525 central nervous system vasculitis oboInOwl:hasDbXref UMLS:C0751878 semapv:UnspecifiedMatching DOID:5251 inflammatory leiomyosarcoma oboInOwl:hasDbXref NCI:C27495 semapv:UnspecifiedMatching -DOID:5251 inflammatory leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334179 semapv:UnspecifiedMatching +DOID:5251 inflammatory leiomyosarcoma oboInOwl:hasDbXref UMLS:C1334179 semapv:UnspecifiedMatching DOID:5253 conventional leiomyosarcoma oboInOwl:hasDbXref NCI:C9428 semapv:UnspecifiedMatching -DOID:5253 conventional leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333157 semapv:UnspecifiedMatching +DOID:5253 conventional leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333157 semapv:UnspecifiedMatching DOID:5254 central nervous system leiomyosarcoma oboInOwl:hasDbXref NCI:C6999 semapv:UnspecifiedMatching -DOID:5254 central nervous system leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334385 semapv:UnspecifiedMatching +DOID:5254 central nervous system leiomyosarcoma oboInOwl:hasDbXref UMLS:C1334385 semapv:UnspecifiedMatching DOID:5258 granular cell leiomyosarcoma oboInOwl:hasDbXref NCI:C27494 semapv:UnspecifiedMatching -DOID:5258 granular cell leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333871 semapv:UnspecifiedMatching +DOID:5258 granular cell leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333871 semapv:UnspecifiedMatching DOID:5259 colon leiomyosarcoma oboInOwl:hasDbXref NCI:C5494 semapv:UnspecifiedMatching -DOID:5259 colon leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333093 semapv:UnspecifiedMatching +DOID:5259 colon leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333093 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref ICD10CM:B20 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref ICD9CM:042-042.99 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref MESH:D015658 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref NCI:C3108 semapv:UnspecifiedMatching -DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref UMLS_CUI:C0019693 semapv:UnspecifiedMatching +DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref UMLS:C0019693 semapv:UnspecifiedMatching DOID:5260 colon sarcoma oboInOwl:hasDbXref NCI:C5495 semapv:UnspecifiedMatching -DOID:5260 colon sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333098 semapv:UnspecifiedMatching +DOID:5260 colon sarcoma oboInOwl:hasDbXref UMLS:C1333098 semapv:UnspecifiedMatching DOID:5261 heart leiomyosarcoma oboInOwl:hasDbXref NCI:C5364 semapv:UnspecifiedMatching -DOID:5261 heart leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332848 semapv:UnspecifiedMatching +DOID:5261 heart leiomyosarcoma oboInOwl:hasDbXref UMLS:C1332848 semapv:UnspecifiedMatching DOID:5262 heart sarcoma oboInOwl:hasDbXref NCI:C7723 semapv:UnspecifiedMatching -DOID:5262 heart sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238152 semapv:UnspecifiedMatching +DOID:5262 heart sarcoma oboInOwl:hasDbXref UMLS:C0238152 semapv:UnspecifiedMatching DOID:5263 ovary leiomyosarcoma oboInOwl:hasDbXref NCI:C5234 semapv:UnspecifiedMatching -DOID:5263 ovary leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335163 semapv:UnspecifiedMatching +DOID:5263 ovary leiomyosarcoma oboInOwl:hasDbXref UMLS:C1335163 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref ICDO:8891/3 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref NCI:C3700 semapv:UnspecifiedMatching -DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0205815 semapv:UnspecifiedMatching +DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref UMLS:C0205815 semapv:UnspecifiedMatching DOID:5265 lung leiomyosarcoma oboInOwl:hasDbXref NCI:C5667 semapv:UnspecifiedMatching -DOID:5265 lung leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334448 semapv:UnspecifiedMatching +DOID:5265 lung leiomyosarcoma oboInOwl:hasDbXref UMLS:C1334448 semapv:UnspecifiedMatching DOID:5267 anus leiomyosarcoma oboInOwl:hasDbXref NCI:C5599 semapv:UnspecifiedMatching -DOID:5267 anus leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332267 semapv:UnspecifiedMatching +DOID:5267 anus leiomyosarcoma oboInOwl:hasDbXref UMLS:C1332267 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref ICDO:8896/3 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref NCI:C3701 semapv:UnspecifiedMatching -DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0205816 semapv:UnspecifiedMatching +DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref UMLS:C0205816 semapv:UnspecifiedMatching DOID:5271 small intestine leiomyosarcoma oboInOwl:hasDbXref NCI:C7085 semapv:UnspecifiedMatching -DOID:5271 small intestine leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0920305 semapv:UnspecifiedMatching +DOID:5271 small intestine leiomyosarcoma oboInOwl:hasDbXref UMLS:C0920305 semapv:UnspecifiedMatching DOID:5272 small intestinal sarcoma oboInOwl:hasDbXref NCI:C5335 semapv:UnspecifiedMatching -DOID:5272 small intestinal sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336007 semapv:UnspecifiedMatching +DOID:5272 small intestinal sarcoma oboInOwl:hasDbXref UMLS:C1336007 semapv:UnspecifiedMatching DOID:5273 cutaneous leiomyosarcoma oboInOwl:hasDbXref NCI:C4484 semapv:UnspecifiedMatching -DOID:5273 cutaneous leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346067 semapv:UnspecifiedMatching +DOID:5273 cutaneous leiomyosarcoma oboInOwl:hasDbXref UMLS:C0346067 semapv:UnspecifiedMatching DOID:5274 malignant dermis tumor oboInOwl:hasDbXref NCI:C4574 semapv:UnspecifiedMatching -DOID:5274 malignant dermis tumor oboInOwl:hasDbXref UMLS_CUI:C0346811 semapv:UnspecifiedMatching +DOID:5274 malignant dermis tumor oboInOwl:hasDbXref UMLS:C0346811 semapv:UnspecifiedMatching DOID:5275 gallbladder leiomyosarcoma oboInOwl:hasDbXref NCI:C5841 semapv:UnspecifiedMatching -DOID:5275 gallbladder leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333746 semapv:UnspecifiedMatching +DOID:5275 gallbladder leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333746 semapv:UnspecifiedMatching DOID:5276 esophagus leiomyosarcoma oboInOwl:hasDbXref NCI:C5334 semapv:UnspecifiedMatching -DOID:5276 esophagus leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333454 semapv:UnspecifiedMatching +DOID:5276 esophagus leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333454 semapv:UnspecifiedMatching DOID:528 hydrarthrosis oboInOwl:hasDbXref ICD9CM:719.08 semapv:UnspecifiedMatching -DOID:528 hydrarthrosis oboInOwl:hasDbXref UMLS_CUI:C0158157 semapv:UnspecifiedMatching +DOID:528 hydrarthrosis oboInOwl:hasDbXref UMLS:C0158157 semapv:UnspecifiedMatching DOID:5280 gastric leiomyosarcoma oboInOwl:hasDbXref NCI:C27200 semapv:UnspecifiedMatching -DOID:5280 gastric leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0744295 semapv:UnspecifiedMatching +DOID:5280 gastric leiomyosarcoma oboInOwl:hasDbXref UMLS:C0744295 semapv:UnspecifiedMatching DOID:5282 prostate leiomyosarcoma oboInOwl:hasDbXref NCI:C5526 semapv:UnspecifiedMatching -DOID:5282 prostate leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335511 semapv:UnspecifiedMatching +DOID:5282 prostate leiomyosarcoma oboInOwl:hasDbXref UMLS:C1335511 semapv:UnspecifiedMatching DOID:5283 vagina leiomyosarcoma oboInOwl:hasDbXref NCI:C6326 semapv:UnspecifiedMatching -DOID:5283 vagina leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336940 semapv:UnspecifiedMatching +DOID:5283 vagina leiomyosarcoma oboInOwl:hasDbXref UMLS:C1336940 semapv:UnspecifiedMatching DOID:5284 retroperitoneal leiomyosarcoma oboInOwl:hasDbXref NCI:C27904 semapv:UnspecifiedMatching DOID:5285 breast leiomyosarcoma oboInOwl:hasDbXref NCI:C5186 semapv:UnspecifiedMatching -DOID:5285 breast leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332631 semapv:UnspecifiedMatching +DOID:5285 breast leiomyosarcoma oboInOwl:hasDbXref UMLS:C1332631 semapv:UnspecifiedMatching DOID:5286 vulvar leiomyosarcoma oboInOwl:hasDbXref NCI:C40318 semapv:UnspecifiedMatching DOID:5287 kidney leiomyosarcoma oboInOwl:hasDbXref NCI:C6183 semapv:UnspecifiedMatching -DOID:5287 kidney leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335743 semapv:UnspecifiedMatching +DOID:5287 kidney leiomyosarcoma oboInOwl:hasDbXref UMLS:C1335743 semapv:UnspecifiedMatching DOID:5288 larynx leiomyosarcoma oboInOwl:hasDbXref NCI:C6022 semapv:UnspecifiedMatching -DOID:5288 larynx leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334371 semapv:UnspecifiedMatching +DOID:5288 larynx leiomyosarcoma oboInOwl:hasDbXref UMLS:C1334371 semapv:UnspecifiedMatching DOID:5289 uterus leiomyosarcoma oboInOwl:hasDbXref NCI:C6340 semapv:UnspecifiedMatching -DOID:5289 uterus leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0280631 semapv:UnspecifiedMatching +DOID:5289 uterus leiomyosarcoma oboInOwl:hasDbXref UMLS:C0280631 semapv:UnspecifiedMatching DOID:529 blepharospasm oboInOwl:hasDbXref GARD:5909 semapv:UnspecifiedMatching DOID:529 blepharospasm oboInOwl:hasDbXref ICD10CM:G24.5 semapv:UnspecifiedMatching DOID:529 blepharospasm oboInOwl:hasDbXref ICD9CM:333.81 semapv:UnspecifiedMatching DOID:529 blepharospasm oboInOwl:hasDbXref MESH:D001764 semapv:UnspecifiedMatching DOID:529 blepharospasm oboInOwl:hasDbXref NCI:C118723 semapv:UnspecifiedMatching -DOID:529 blepharospasm oboInOwl:hasDbXref UMLS_CUI:C0005747 semapv:UnspecifiedMatching +DOID:529 blepharospasm oboInOwl:hasDbXref UMLS:C0005747 semapv:UnspecifiedMatching DOID:529 blepharospasm skos:exactMatch MESH:D001764 semapv:UnspecifiedMatching DOID:5292 mediastinum leiomyosarcoma oboInOwl:hasDbXref NCI:C6619 semapv:UnspecifiedMatching -DOID:5292 mediastinum leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334660 semapv:UnspecifiedMatching +DOID:5292 mediastinum leiomyosarcoma oboInOwl:hasDbXref UMLS:C1334660 semapv:UnspecifiedMatching DOID:5293 extrahepatic bile duct leiomyosarcoma oboInOwl:hasDbXref NCI:C5848 semapv:UnspecifiedMatching -DOID:5293 extrahepatic bile duct leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333508 semapv:UnspecifiedMatching +DOID:5293 extrahepatic bile duct leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333508 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref ICD10CM:K63.9 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref ICD9CM:569.9 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref MESH:D007410 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref NCI:C26801 semapv:UnspecifiedMatching -DOID:5295 intestinal disease oboInOwl:hasDbXref UMLS_CUI:C0021831 semapv:UnspecifiedMatching +DOID:5295 intestinal disease oboInOwl:hasDbXref UMLS:C0021831 semapv:UnspecifiedMatching DOID:5296 liver leiomyosarcoma oboInOwl:hasDbXref NCI:C5756 semapv:UnspecifiedMatching -DOID:5296 liver leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333969 semapv:UnspecifiedMatching +DOID:5296 liver leiomyosarcoma oboInOwl:hasDbXref UMLS:C1333969 semapv:UnspecifiedMatching DOID:5297 rectum leiomyosarcoma oboInOwl:hasDbXref NCI:C5549 semapv:UnspecifiedMatching -DOID:5297 rectum leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335683 semapv:UnspecifiedMatching +DOID:5297 rectum leiomyosarcoma oboInOwl:hasDbXref UMLS:C1335683 semapv:UnspecifiedMatching DOID:5299 endometrial clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C8028 semapv:UnspecifiedMatching -DOID:5299 endometrial clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279765 semapv:UnspecifiedMatching +DOID:5299 endometrial clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0279765 semapv:UnspecifiedMatching DOID:53 pituitary gland disease oboInOwl:hasDbXref ICD9CM:253.1 semapv:UnspecifiedMatching -DOID:53 pituitary gland disease oboInOwl:hasDbXref UMLS_CUI:C0029493 semapv:UnspecifiedMatching +DOID:53 pituitary gland disease oboInOwl:hasDbXref UMLS:C0029493 semapv:UnspecifiedMatching DOID:530 eyelid disease oboInOwl:hasDbXref ICD10CM:H02.9 semapv:UnspecifiedMatching DOID:530 eyelid disease oboInOwl:hasDbXref ICD9CM:374.9 semapv:UnspecifiedMatching DOID:530 eyelid disease oboInOwl:hasDbXref MESH:D005141 semapv:UnspecifiedMatching DOID:530 eyelid disease oboInOwl:hasDbXref NCI:C26768 semapv:UnspecifiedMatching -DOID:530 eyelid disease oboInOwl:hasDbXref UMLS_CUI:C0015423 semapv:UnspecifiedMatching +DOID:530 eyelid disease oboInOwl:hasDbXref UMLS:C0015423 semapv:UnspecifiedMatching DOID:5301 fallopian tube clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6280 semapv:UnspecifiedMatching -DOID:5301 fallopian tube clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333591 semapv:UnspecifiedMatching +DOID:5301 fallopian tube clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1333591 semapv:UnspecifiedMatching DOID:5302 uterine ligament clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C40139 semapv:UnspecifiedMatching -DOID:5302 uterine ligament clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557431 semapv:UnspecifiedMatching +DOID:5302 uterine ligament clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C5557431 semapv:UnspecifiedMatching DOID:5303 cervical clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6344 semapv:UnspecifiedMatching -DOID:5303 cervical clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332912 semapv:UnspecifiedMatching +DOID:5303 cervical clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1332912 semapv:UnspecifiedMatching DOID:5304 ovarian clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C40078 semapv:UnspecifiedMatching -DOID:5304 ovarian clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518693 semapv:UnspecifiedMatching +DOID:5304 ovarian clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1518693 semapv:UnspecifiedMatching DOID:5306 bladder clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6179 semapv:UnspecifiedMatching -DOID:5306 bladder clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332557 semapv:UnspecifiedMatching +DOID:5306 bladder clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1332557 semapv:UnspecifiedMatching DOID:5307 urethra clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6172 semapv:UnspecifiedMatching -DOID:5307 urethra clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336886 semapv:UnspecifiedMatching +DOID:5307 urethra clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1336886 semapv:UnspecifiedMatching DOID:5308 ampulla of Vater clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C27414 semapv:UnspecifiedMatching -DOID:5308 ampulla of Vater clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332246 semapv:UnspecifiedMatching +DOID:5308 ampulla of Vater clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1332246 semapv:UnspecifiedMatching DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref ICDO:8562/3 semapv:UnspecifiedMatching DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref NCI:C4199 semapv:UnspecifiedMatching -DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334392 semapv:UnspecifiedMatching +DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref UMLS:C0334392 semapv:UnspecifiedMatching DOID:5310 glycogen-rich clear cell breast carcinoma oboInOwl:hasDbXref NCI:C40368 semapv:UnspecifiedMatching -DOID:5310 glycogen-rich clear cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C2012261 semapv:UnspecifiedMatching +DOID:5310 glycogen-rich clear cell breast carcinoma oboInOwl:hasDbXref UMLS:C2012261 semapv:UnspecifiedMatching DOID:5313 vulvar alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C40320 semapv:UnspecifiedMatching -DOID:5313 vulvar alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C1520069 semapv:UnspecifiedMatching +DOID:5313 vulvar alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C1520069 semapv:UnspecifiedMatching DOID:5324 fallopian tube germ cell cancer oboInOwl:hasDbXref NCI:C40130 semapv:UnspecifiedMatching -DOID:5324 fallopian tube germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1517114 semapv:UnspecifiedMatching +DOID:5324 fallopian tube germ cell cancer oboInOwl:hasDbXref UMLS:C1517114 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref GARD:7387 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref NCI:C4681 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref ORDO:3103 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome oboInOwl:hasDbXref UMLS_CUI:C0392475 semapv:UnspecifiedMatching +DOID:5325 Roberts syndrome oboInOwl:hasDbXref UMLS:C0392475 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome skos:exactMatch OMIM:268300 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref ICD10CM:H33.2 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref ICD9CM:361.9 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref MESH:D012163 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref NCI:C26874 semapv:UnspecifiedMatching -DOID:5327 retinal detachment oboInOwl:hasDbXref UMLS_CUI:C0035305 semapv:UnspecifiedMatching +DOID:5327 retinal detachment oboInOwl:hasDbXref UMLS:C0035305 semapv:UnspecifiedMatching DOID:533 thymus gland disease oboInOwl:hasDbXref ICD10CM:E32 semapv:UnspecifiedMatching DOID:533 thymus gland disease oboInOwl:hasDbXref ICD9CM:254 semapv:UnspecifiedMatching DOID:533 thymus gland disease oboInOwl:hasDbXref NCI:C26962 semapv:UnspecifiedMatching -DOID:533 thymus gland disease oboInOwl:hasDbXref UMLS_CUI:C0154199 semapv:UnspecifiedMatching +DOID:533 thymus gland disease oboInOwl:hasDbXref UMLS:C0154199 semapv:UnspecifiedMatching DOID:5330 dental pulp disease oboInOwl:hasDbXref MESH:D003788 semapv:UnspecifiedMatching DOID:5330 dental pulp disease oboInOwl:hasDbXref NCI:C34530 semapv:UnspecifiedMatching -DOID:5330 dental pulp disease oboInOwl:hasDbXref UMLS_CUI:C0011405 semapv:UnspecifiedMatching +DOID:5330 dental pulp disease oboInOwl:hasDbXref UMLS:C0011405 semapv:UnspecifiedMatching DOID:5331 testicular granulosa cell tumor oboInOwl:hasDbXref NCI:C6357 semapv:UnspecifiedMatching -DOID:5331 testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C1336709 semapv:UnspecifiedMatching +DOID:5331 testicular granulosa cell tumor oboInOwl:hasDbXref UMLS:C1336709 semapv:UnspecifiedMatching DOID:5334 paraphimosis oboInOwl:hasDbXref ICD10CM:N47.2 semapv:UnspecifiedMatching DOID:5334 paraphimosis oboInOwl:hasDbXref MESH:D010263 semapv:UnspecifiedMatching DOID:5334 paraphimosis oboInOwl:hasDbXref NCI:C34893 semapv:UnspecifiedMatching -DOID:5334 paraphimosis oboInOwl:hasDbXref UMLS_CUI:C0030483 semapv:UnspecifiedMatching +DOID:5334 paraphimosis oboInOwl:hasDbXref UMLS:C0030483 semapv:UnspecifiedMatching DOID:5337 epulis oboInOwl:hasDbXref MESH:D005882 semapv:UnspecifiedMatching DOID:5337 epulis oboInOwl:hasDbXref NCI:C3948 semapv:UnspecifiedMatching -DOID:5337 epulis oboInOwl:hasDbXref UMLS_CUI:C0266919 semapv:UnspecifiedMatching +DOID:5337 epulis oboInOwl:hasDbXref UMLS:C0266919 semapv:UnspecifiedMatching DOID:5338 gingival hypertrophy oboInOwl:hasDbXref MESH:D005886 semapv:UnspecifiedMatching -DOID:5338 gingival hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0017567 semapv:UnspecifiedMatching +DOID:5338 gingival hypertrophy oboInOwl:hasDbXref UMLS:C0017567 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD10CM:D70.4 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD9CM:288.02 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref NCI:C3820 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref UMLS_CUI:C0221023 semapv:UnspecifiedMatching +DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref UMLS:C0221023 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis skos:exactMatch OMIM:162800 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref ICD10CM:R41.1 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref MESH:D020324 semapv:UnspecifiedMatching -DOID:5340 anterograde amnesia oboInOwl:hasDbXref UMLS_CUI:C0233795 semapv:UnspecifiedMatching +DOID:5340 anterograde amnesia oboInOwl:hasDbXref UMLS:C0233795 semapv:UnspecifiedMatching DOID:5341 pineal region yolk sac tumor oboInOwl:hasDbXref NCI:C6752 semapv:UnspecifiedMatching -DOID:5341 pineal region yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1335420 semapv:UnspecifiedMatching +DOID:5341 pineal region yolk sac tumor oboInOwl:hasDbXref UMLS:C1335420 semapv:UnspecifiedMatching DOID:5342 childhood endodermal sinus tumor oboInOwl:hasDbXref NCI:C27364 semapv:UnspecifiedMatching -DOID:5342 childhood endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1333016 semapv:UnspecifiedMatching +DOID:5342 childhood endodermal sinus tumor oboInOwl:hasDbXref UMLS:C1333016 semapv:UnspecifiedMatching DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref NCI:C6209 semapv:UnspecifiedMatching DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref NCI:C7011 semapv:UnspecifiedMatching -DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1337040 semapv:UnspecifiedMatching -DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1377613 semapv:UnspecifiedMatching +DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref UMLS:C1337040 semapv:UnspecifiedMatching +DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref UMLS:C1377613 semapv:UnspecifiedMatching DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref GARD:348 semapv:UnspecifiedMatching DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref NCI:C8000 semapv:UnspecifiedMatching -DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C0279708 semapv:UnspecifiedMatching +DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C0279708 semapv:UnspecifiedMatching DOID:5345 testicular non-seminomatous germ cell cancer oboInOwl:hasDbXref NCI:C5027 semapv:UnspecifiedMatching -DOID:5345 testicular non-seminomatous germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334625 semapv:UnspecifiedMatching +DOID:5345 testicular non-seminomatous germ cell cancer oboInOwl:hasDbXref UMLS:C1334625 semapv:UnspecifiedMatching DOID:5348 adult endodermal sinus tumor oboInOwl:hasDbXref NCI:C27241 semapv:UnspecifiedMatching -DOID:5348 adult endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1332221 semapv:UnspecifiedMatching +DOID:5348 adult endodermal sinus tumor oboInOwl:hasDbXref UMLS:C1332221 semapv:UnspecifiedMatching DOID:5349 central nervous system adult germ cell tumor oboInOwl:hasDbXref NCI:C6285 semapv:UnspecifiedMatching -DOID:5349 central nervous system adult germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0280796 semapv:UnspecifiedMatching +DOID:5349 central nervous system adult germ cell tumor oboInOwl:hasDbXref UMLS:C0280796 semapv:UnspecifiedMatching DOID:535 sleep disorder oboInOwl:hasDbXref ICD9CM:307.4 semapv:UnspecifiedMatching -DOID:535 sleep disorder oboInOwl:hasDbXref UMLS_CUI:C0154564 semapv:UnspecifiedMatching +DOID:535 sleep disorder oboInOwl:hasDbXref UMLS:C0154564 semapv:UnspecifiedMatching DOID:5350 ovarian endodermal sinus tumor oboInOwl:hasDbXref NCI:C8107 semapv:UnspecifiedMatching -DOID:5350 ovarian endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C0346188 semapv:UnspecifiedMatching +DOID:5350 ovarian endodermal sinus tumor oboInOwl:hasDbXref UMLS:C0346188 semapv:UnspecifiedMatching DOID:5351 ovarian primitive germ cell tumor oboInOwl:hasDbXref NCI:C39986 semapv:UnspecifiedMatching -DOID:5351 ovarian primitive germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1518727 semapv:UnspecifiedMatching +DOID:5351 ovarian primitive germ cell tumor oboInOwl:hasDbXref UMLS:C1518727 semapv:UnspecifiedMatching DOID:5353 colonic disease oboInOwl:hasDbXref MESH:D003108 semapv:UnspecifiedMatching -DOID:5353 colonic disease oboInOwl:hasDbXref UMLS_CUI:C0009373 semapv:UnspecifiedMatching +DOID:5353 colonic disease oboInOwl:hasDbXref UMLS:C0009373 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref MESH:D017573 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref NCI:C97083 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref OMIM:229045 semapv:UnspecifiedMatching -DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref UMLS_CUI:C0206067 semapv:UnspecifiedMatching +DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref UMLS:C0206067 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia skos:exactMatch OMIM:229045 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref GARD:7157 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ICDO:8852/3 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ORDO:99967 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0206634 semapv:UnspecifiedMatching +DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref UMLS:C0206634 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma skos:exactMatch OMIM:613488 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref ICD10CM:R91.1 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref MESH:D003074 semapv:UnspecifiedMatching -DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref UMLS_CUI:C0009250 semapv:UnspecifiedMatching +DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref UMLS:C0009250 semapv:UnspecifiedMatching DOID:5368 Wolffian duct adenocarcinoma oboInOwl:hasDbXref NCI:C40254 semapv:UnspecifiedMatching -DOID:5368 Wolffian duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516419 semapv:UnspecifiedMatching +DOID:5368 Wolffian duct adenocarcinoma oboInOwl:hasDbXref UMLS:C1516419 semapv:UnspecifiedMatching DOID:5370 breast hemangiopericytoma oboInOwl:hasDbXref NCI:C40396 semapv:UnspecifiedMatching -DOID:5370 breast hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1511313 semapv:UnspecifiedMatching +DOID:5370 breast hemangiopericytoma oboInOwl:hasDbXref UMLS:C1511313 semapv:UnspecifiedMatching DOID:5373 retroperitoneal hemangiopericytoma oboInOwl:hasDbXref NCI:C5386 semapv:UnspecifiedMatching -DOID:5373 retroperitoneal hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1335777 semapv:UnspecifiedMatching +DOID:5373 retroperitoneal hemangiopericytoma oboInOwl:hasDbXref UMLS:C1335777 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref GARD:9452 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref NCI:C7368 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref OMIM:132600 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma oboInOwl:hasDbXref UMLS_CUI:C0206711 semapv:UnspecifiedMatching +DOID:5374 pilomatrixoma oboInOwl:hasDbXref UMLS:C0206711 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma skos:exactMatch MESH:D018296 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma skos:exactMatch OMIM:132600 semapv:UnspecifiedMatching DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref NCI:C7367 semapv:UnspecifiedMatching -DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref UMLS_CUI:C0859920 semapv:UnspecifiedMatching +DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref UMLS:C0859920 semapv:UnspecifiedMatching DOID:5376 skin pilomatrix carcinoma oboInOwl:hasDbXref NCI:C4114 semapv:UnspecifiedMatching -DOID:5376 skin pilomatrix carcinoma oboInOwl:hasDbXref UMLS_CUI:C0585475 semapv:UnspecifiedMatching +DOID:5376 skin pilomatrix carcinoma oboInOwl:hasDbXref UMLS:C0585475 semapv:UnspecifiedMatching DOID:5378 hemoglobin D disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:5378 hemoglobin D disease oboInOwl:hasDbXref NCI:C35344 semapv:UnspecifiedMatching -DOID:5378 hemoglobin D disease oboInOwl:hasDbXref UMLS_CUI:C0272080 semapv:UnspecifiedMatching +DOID:5378 hemoglobin D disease oboInOwl:hasDbXref UMLS:C0272080 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref GARD:2641 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref NCI:C35287 semapv:UnspecifiedMatching -DOID:5379 hemoglobin E disease oboInOwl:hasDbXref UMLS_CUI:C0238159 semapv:UnspecifiedMatching +DOID:5379 hemoglobin E disease oboInOwl:hasDbXref UMLS:C0238159 semapv:UnspecifiedMatching DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref ICD10CM:H51.2 semapv:UnspecifiedMatching DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.86 semapv:UnspecifiedMatching DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref MESH:D015835 semapv:UnspecifiedMatching -DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152134 semapv:UnspecifiedMatching +DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref UMLS:C0152134 semapv:UnspecifiedMatching DOID:5381 bile duct adenoma oboInOwl:hasDbXref ICDO:8160/0 semapv:UnspecifiedMatching DOID:5381 bile duct adenoma oboInOwl:hasDbXref MESH:D002759 semapv:UnspecifiedMatching DOID:5381 bile duct adenoma oboInOwl:hasDbXref NCI:C2942 semapv:UnspecifiedMatching -DOID:5381 bile duct adenoma oboInOwl:hasDbXref UMLS_CUI:C0008309 semapv:UnspecifiedMatching +DOID:5381 bile duct adenoma oboInOwl:hasDbXref UMLS:C0008309 semapv:UnspecifiedMatching DOID:5382 Bartholin's gland adenoma oboInOwl:hasDbXref NCI:C40299 semapv:UnspecifiedMatching -DOID:5382 Bartholin's gland adenoma oboInOwl:hasDbXref UMLS_CUI:C1511048 semapv:UnspecifiedMatching +DOID:5382 Bartholin's gland adenoma oboInOwl:hasDbXref UMLS:C1511048 semapv:UnspecifiedMatching DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref ICDO:8161/0 semapv:UnspecifiedMatching DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref NCI:C4129 semapv:UnspecifiedMatching -DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0334285 semapv:UnspecifiedMatching +DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref UMLS:C0334285 semapv:UnspecifiedMatching DOID:5385 mixed cell adenoma oboInOwl:hasDbXref ICDO:8323/0 semapv:UnspecifiedMatching DOID:5385 mixed cell adenoma oboInOwl:hasDbXref NCI:C4157 semapv:UnspecifiedMatching -DOID:5385 mixed cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334323 semapv:UnspecifiedMatching +DOID:5385 mixed cell adenoma oboInOwl:hasDbXref UMLS:C0334323 semapv:UnspecifiedMatching DOID:5386 lung adenoma oboInOwl:hasDbXref NCI:C4455 semapv:UnspecifiedMatching -DOID:5386 lung adenoma oboInOwl:hasDbXref UMLS_CUI:C0345964 semapv:UnspecifiedMatching +DOID:5386 lung adenoma oboInOwl:hasDbXref UMLS:C0345964 semapv:UnspecifiedMatching DOID:5387 middle ear adenoma oboInOwl:hasDbXref NCI:C6834 semapv:UnspecifiedMatching -DOID:5387 middle ear adenoma oboInOwl:hasDbXref UMLS_CUI:C1334759 semapv:UnspecifiedMatching +DOID:5387 middle ear adenoma oboInOwl:hasDbXref UMLS:C1334759 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref ICDO:8290/0 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref MESH:D018249 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref NCI:C3759 semapv:UnspecifiedMatching -DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref UMLS_CUI:C1510502 semapv:UnspecifiedMatching +DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref UMLS:C1510502 semapv:UnspecifiedMatching DOID:539 ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.56 semapv:UnspecifiedMatching DOID:539 ophthalmoplegia oboInOwl:hasDbXref MESH:D009886 semapv:UnspecifiedMatching DOID:539 ophthalmoplegia oboInOwl:hasDbXref NCI:C79697 semapv:UnspecifiedMatching -DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0029089 semapv:UnspecifiedMatching -DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0155338 semapv:UnspecifiedMatching +DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS:C0029089 semapv:UnspecifiedMatching +DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS:C0155338 semapv:UnspecifiedMatching DOID:5390 clear cell adenoma oboInOwl:hasDbXref ICDO:8310/0 semapv:UnspecifiedMatching DOID:5390 clear cell adenoma oboInOwl:hasDbXref NCI:C4151 semapv:UnspecifiedMatching -DOID:5390 clear cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334315 semapv:UnspecifiedMatching +DOID:5390 clear cell adenoma oboInOwl:hasDbXref UMLS:C0334315 semapv:UnspecifiedMatching DOID:5391 bronchus adenoma oboInOwl:hasDbXref NCI:C3494 semapv:UnspecifiedMatching -DOID:5391 bronchus adenoma oboInOwl:hasDbXref UMLS_CUI:C0149845 semapv:UnspecifiedMatching +DOID:5391 bronchus adenoma oboInOwl:hasDbXref UMLS:C0149845 semapv:UnspecifiedMatching DOID:5392 acidophil adenoma oboInOwl:hasDbXref ICDO:8280/0 semapv:UnspecifiedMatching DOID:5392 acidophil adenoma oboInOwl:hasDbXref MESH:D000239 semapv:UnspecifiedMatching DOID:5392 acidophil adenoma oboInOwl:hasDbXref NCI:C6780 semapv:UnspecifiedMatching -DOID:5392 acidophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0001433 semapv:UnspecifiedMatching +DOID:5392 acidophil adenoma oboInOwl:hasDbXref UMLS:C0001433 semapv:UnspecifiedMatching DOID:5393 brain angioma oboInOwl:hasDbXref NCI:C7739 semapv:UnspecifiedMatching -DOID:5393 brain angioma oboInOwl:hasDbXref UMLS_CUI:C0238814 semapv:UnspecifiedMatching +DOID:5393 brain angioma oboInOwl:hasDbXref UMLS:C0238814 semapv:UnspecifiedMatching DOID:5394 prolactinoma oboInOwl:hasDbXref GARD:4508 semapv:UnspecifiedMatching DOID:5394 prolactinoma oboInOwl:hasDbXref MESH:D015175 semapv:UnspecifiedMatching DOID:5394 prolactinoma oboInOwl:hasDbXref NCI:C3342 semapv:UnspecifiedMatching -DOID:5394 prolactinoma oboInOwl:hasDbXref UMLS_CUI:C0033375 semapv:UnspecifiedMatching +DOID:5394 prolactinoma oboInOwl:hasDbXref UMLS:C0033375 semapv:UnspecifiedMatching DOID:5395 functioning pituitary adenoma oboInOwl:hasDbXref NCI:C8388 semapv:UnspecifiedMatching -DOID:5395 functioning pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0854486 semapv:UnspecifiedMatching +DOID:5395 functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0854486 semapv:UnspecifiedMatching DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref NCI:C5962 semapv:UnspecifiedMatching -DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref UMLS_CUI:C1334614 semapv:UnspecifiedMatching +DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref UMLS:C1334614 semapv:UnspecifiedMatching DOID:5398 lipoadenoma oboInOwl:hasDbXref ICDO:8324/0 semapv:UnspecifiedMatching DOID:5398 lipoadenoma oboInOwl:hasDbXref NCI:C4159 semapv:UnspecifiedMatching -DOID:5398 lipoadenoma oboInOwl:hasDbXref UMLS_CUI:C0334325 semapv:UnspecifiedMatching +DOID:5398 lipoadenoma oboInOwl:hasDbXref UMLS:C0334325 semapv:UnspecifiedMatching DOID:540 strabismus oboInOwl:hasDbXref ICD10CM:H50.8 semapv:UnspecifiedMatching DOID:540 strabismus oboInOwl:hasDbXref ICD9CM:378.7 semapv:UnspecifiedMatching -DOID:540 strabismus oboInOwl:hasDbXref UMLS_CUI:C0029831 semapv:UnspecifiedMatching +DOID:540 strabismus oboInOwl:hasDbXref UMLS:C0029831 semapv:UnspecifiedMatching DOID:540 strabismus skos:exactMatch MESH:D013285 semapv:UnspecifiedMatching DOID:5401 water-clear cell adenoma oboInOwl:hasDbXref ICDO:8322/0 semapv:UnspecifiedMatching DOID:5401 water-clear cell adenoma oboInOwl:hasDbXref NCI:C4155 semapv:UnspecifiedMatching -DOID:5401 water-clear cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334321 semapv:UnspecifiedMatching +DOID:5401 water-clear cell adenoma oboInOwl:hasDbXref UMLS:C0334321 semapv:UnspecifiedMatching DOID:5402 vaginal adenoma oboInOwl:hasDbXref NCI:C40256 semapv:UnspecifiedMatching -DOID:5402 vaginal adenoma oboInOwl:hasDbXref UMLS_CUI:C1519913 semapv:UnspecifiedMatching +DOID:5402 vaginal adenoma oboInOwl:hasDbXref UMLS:C1519913 semapv:UnspecifiedMatching DOID:5403 microcystic adenoma oboInOwl:hasDbXref ICDO:8202/0 semapv:UnspecifiedMatching DOID:5403 microcystic adenoma oboInOwl:hasDbXref MESH:D000236 semapv:UnspecifiedMatching DOID:5403 microcystic adenoma oboInOwl:hasDbXref NCI:C3685 semapv:UnspecifiedMatching -DOID:5403 microcystic adenoma oboInOwl:hasDbXref UMLS_CUI:C0205648 semapv:UnspecifiedMatching +DOID:5403 microcystic adenoma oboInOwl:hasDbXref UMLS:C0205648 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref EFO:0004261 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref GARD:8615 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ICD10CM:M88 semapv:UnspecifiedMatching @@ -31657,380 +31970,380 @@ DOID:5408 Paget's disease of bone oboInOwl:hasDbXref MESH:D010001 semapv:Unspeci DOID:5408 Paget's disease of bone oboInOwl:hasDbXref NCI:C3292 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref OMIMPS:167250 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ORDO:280110 semapv:UnspecifiedMatching -DOID:5408 Paget's disease of bone oboInOwl:hasDbXref UMLS_CUI:C0029401 semapv:UnspecifiedMatching +DOID:5408 Paget's disease of bone oboInOwl:hasDbXref UMLS:C0029401 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone skos:exactMatch OMIMPS:167250 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref KEGG:05222 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref MESH:D055752 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref NCI:C4917 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref OMIM:182280 semapv:UnspecifiedMatching -DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0149925 semapv:UnspecifiedMatching +DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref UMLS:C0149925 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma skos:exactMatch OMIM:182280 semapv:UnspecifiedMatching DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref NCI:C5670 semapv:UnspecifiedMatching -DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334452 semapv:UnspecifiedMatching +DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1334452 semapv:UnspecifiedMatching DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref MESH:D018288 semapv:UnspecifiedMatching DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref NCI:C3915 semapv:UnspecifiedMatching -DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0262584 semapv:UnspecifiedMatching +DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref UMLS:C0262584 semapv:UnspecifiedMatching DOID:5414 lung occult small cell carcinoma oboInOwl:hasDbXref NCI:C6683 semapv:UnspecifiedMatching -DOID:5414 lung occult small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335099 semapv:UnspecifiedMatching +DOID:5414 lung occult small cell carcinoma oboInOwl:hasDbXref UMLS:C1335099 semapv:UnspecifiedMatching DOID:5418 schizoaffective disorder oboInOwl:hasDbXref ICD10CM:F25 semapv:UnspecifiedMatching DOID:5418 schizoaffective disorder oboInOwl:hasDbXref ICD9CM:295.7 semapv:UnspecifiedMatching DOID:5418 schizoaffective disorder oboInOwl:hasDbXref MESH:D011618 semapv:UnspecifiedMatching DOID:5418 schizoaffective disorder oboInOwl:hasDbXref NCI:C94378 semapv:UnspecifiedMatching -DOID:5418 schizoaffective disorder oboInOwl:hasDbXref UMLS_CUI:C0036337 semapv:UnspecifiedMatching +DOID:5418 schizoaffective disorder oboInOwl:hasDbXref UMLS:C0036337 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref EFO:0000692 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref ICD10CM:F20 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref ICD9CM:295 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref MESH:D012559 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref NCI:C3362 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref OMIM:181500 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0036341 semapv:UnspecifiedMatching +DOID:5419 schizophrenia oboInOwl:hasDbXref UMLS:C0036341 semapv:UnspecifiedMatching DOID:5419 schizophrenia skos:exactMatch OMIM:181500 semapv:UnspecifiedMatching DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref NCI:C9137 semapv:UnspecifiedMatching -DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333125 semapv:UnspecifiedMatching +DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref UMLS:C1333125 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 semapv:UnspecifiedMatching -DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS_CUI:C0085083 semapv:UnspecifiedMatching +DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome skos:exactMatch OMIM:608115 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ICD10CM:E28.3 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref MESH:D016649 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref NCI:C113352 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref OMIMPS:311360 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ORDO:619 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref UMLS_CUI:C0085215 semapv:UnspecifiedMatching +DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref UMLS:C0085215 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency skos:exactMatch OMIMPS:311360 semapv:UnspecifiedMatching DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref NCI:C7414 semapv:UnspecifiedMatching -DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref UMLS_CUI:C1336893 semapv:UnspecifiedMatching +DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref UMLS:C1336893 semapv:UnspecifiedMatching DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref NCI:C37266 semapv:UnspecifiedMatching -DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref UMLS_CUI:C1332559 semapv:UnspecifiedMatching +DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref UMLS:C1332559 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref ICD10CM:G24 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref MESH:D004421 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref MESH:D020821 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref NCI:C34563 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref OMIMPS:128100 semapv:UnspecifiedMatching -DOID:543 dystonia oboInOwl:hasDbXref UMLS_CUI:C0013421 semapv:UnspecifiedMatching -DOID:543 dystonia oboInOwl:hasDbXref UMLS_CUI:C0393593 semapv:UnspecifiedMatching +DOID:543 dystonia oboInOwl:hasDbXref UMLS:C0013421 semapv:UnspecifiedMatching +DOID:543 dystonia oboInOwl:hasDbXref UMLS:C0393593 semapv:UnspecifiedMatching DOID:543 dystonia skos:exactMatch MESH:D004421 semapv:UnspecifiedMatching DOID:543 dystonia skos:exactMatch OMIMPS:128100 semapv:UnspecifiedMatching DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref NCI:C39857 semapv:UnspecifiedMatching -DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1511197 semapv:UnspecifiedMatching +DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref UMLS:C1511197 semapv:UnspecifiedMatching DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref NCI:C27883 semapv:UnspecifiedMatching DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref NCI:C6192 semapv:UnspecifiedMatching -DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334282 semapv:UnspecifiedMatching -DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335329 semapv:UnspecifiedMatching +DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS:C1334282 semapv:UnspecifiedMatching +DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS:C1335329 semapv:UnspecifiedMatching DOID:5434 scrapie oboInOwl:hasDbXref MESH:D012608 semapv:UnspecifiedMatching -DOID:5434 scrapie oboInOwl:hasDbXref UMLS_CUI:C0036457 semapv:UnspecifiedMatching +DOID:5434 scrapie oboInOwl:hasDbXref UMLS:C0036457 semapv:UnspecifiedMatching DOID:5435 variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D016643 semapv:UnspecifiedMatching -DOID:5435 variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS_CUI:C0085209 semapv:UnspecifiedMatching +DOID:5435 variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0085209 semapv:UnspecifiedMatching DOID:5437 intrahepatic bile duct adenoma oboInOwl:hasDbXref NCI:C7126 semapv:UnspecifiedMatching -DOID:5437 intrahepatic bile duct adenoma oboInOwl:hasDbXref UMLS_CUI:C1331535 semapv:UnspecifiedMatching +DOID:5437 intrahepatic bile duct adenoma oboInOwl:hasDbXref UMLS:C1331535 semapv:UnspecifiedMatching DOID:5438 extrahepatic bile duct adenoma oboInOwl:hasDbXref NCI:C5857 semapv:UnspecifiedMatching -DOID:5438 extrahepatic bile duct adenoma oboInOwl:hasDbXref UMLS_CUI:C1331534 semapv:UnspecifiedMatching +DOID:5438 extrahepatic bile duct adenoma oboInOwl:hasDbXref UMLS:C1331534 semapv:UnspecifiedMatching DOID:5439 papillary hidradenoma oboInOwl:hasDbXref ICDO:8405/0 semapv:UnspecifiedMatching DOID:5439 papillary hidradenoma oboInOwl:hasDbXref MESH:D000074009 semapv:UnspecifiedMatching DOID:5439 papillary hidradenoma oboInOwl:hasDbXref NCI:C4171 semapv:UnspecifiedMatching -DOID:5439 papillary hidradenoma oboInOwl:hasDbXref UMLS_CUI:C0334348 semapv:UnspecifiedMatching +DOID:5439 papillary hidradenoma oboInOwl:hasDbXref UMLS:C0334348 semapv:UnspecifiedMatching DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref MESH:D018250 semapv:UnspecifiedMatching DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref NCI:C7568 semapv:UnspecifiedMatching -DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref UMLS_CUI:C0206671 semapv:UnspecifiedMatching +DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref UMLS:C0206671 semapv:UnspecifiedMatching DOID:5443 clear cell hidradenoma oboInOwl:hasDbXref NCI:C7567 semapv:UnspecifiedMatching -DOID:5443 clear cell hidradenoma oboInOwl:hasDbXref UMLS_CUI:C1370701 semapv:UnspecifiedMatching +DOID:5443 clear cell hidradenoma oboInOwl:hasDbXref UMLS:C1370701 semapv:UnspecifiedMatching DOID:5444 spiradenoma oboInOwl:hasDbXref ICDO:8403/0 semapv:UnspecifiedMatching DOID:5444 spiradenoma oboInOwl:hasDbXref NCI:C4170 semapv:UnspecifiedMatching -DOID:5444 spiradenoma oboInOwl:hasDbXref UMLS_CUI:C0334347 semapv:UnspecifiedMatching +DOID:5444 spiradenoma oboInOwl:hasDbXref UMLS:C0334347 semapv:UnspecifiedMatching DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref GARD:5100 semapv:UnspecifiedMatching DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref ICDO:8406/0 semapv:UnspecifiedMatching DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref MESH:D000074009 semapv:UnspecifiedMatching DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref NCI:C4172 semapv:UnspecifiedMatching -DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref UMLS_CUI:C0406803 semapv:UnspecifiedMatching +DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref UMLS:C0406803 semapv:UnspecifiedMatching DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref GARD:10463 semapv:UnspecifiedMatching DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref ICDO:8408/0 semapv:UnspecifiedMatching DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref NCI:C4173 semapv:UnspecifiedMatching -DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C0334350 semapv:UnspecifiedMatching +DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref UMLS:C0334350 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref GARD:10153 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref NCI:C85039 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref OMIMPS:265450 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref ORDO:31837 semapv:UnspecifiedMatching -DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS_CUI:C0034091 semapv:UnspecifiedMatching +DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS:C0034091 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease skos:exactMatch OMIMPS:265450 semapv:UnspecifiedMatching DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref NCI:C6023 semapv:UnspecifiedMatching -DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334374 semapv:UnspecifiedMatching +DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1334374 semapv:UnspecifiedMatching DOID:5463 cochlear disease oboInOwl:hasDbXref MESH:D015834 semapv:UnspecifiedMatching -DOID:5463 cochlear disease oboInOwl:hasDbXref UMLS_CUI:C0009197 semapv:UnspecifiedMatching +DOID:5463 cochlear disease oboInOwl:hasDbXref UMLS:C0009197 semapv:UnspecifiedMatching DOID:5465 conjunctival intraepithelial neoplasm oboInOwl:hasDbXref NCI:C6120 semapv:UnspecifiedMatching -DOID:5465 conjunctival intraepithelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333148 semapv:UnspecifiedMatching +DOID:5465 conjunctival intraepithelial neoplasm oboInOwl:hasDbXref UMLS:C1333148 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref ICD10CM:C69.0 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref ICD9CM:190.3 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref MESH:D003230 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref NCI:C2961 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref NCI:C3564 semapv:UnspecifiedMatching -DOID:5467 conjunctival cancer oboInOwl:hasDbXref UMLS_CUI:C0009761 semapv:UnspecifiedMatching -DOID:5467 conjunctival cancer oboInOwl:hasDbXref UMLS_CUI:C0153628 semapv:UnspecifiedMatching +DOID:5467 conjunctival cancer oboInOwl:hasDbXref UMLS:C0009761 semapv:UnspecifiedMatching +DOID:5467 conjunctival cancer oboInOwl:hasDbXref UMLS:C0153628 semapv:UnspecifiedMatching DOID:5468 biliary papillomatosis oboInOwl:hasDbXref NCI:C65198 semapv:UnspecifiedMatching -DOID:5468 biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1266038 semapv:UnspecifiedMatching +DOID:5468 biliary papillomatosis oboInOwl:hasDbXref UMLS:C1266038 semapv:UnspecifiedMatching DOID:5469 biliary tract intraductal papillary mucinous neoplasm oboInOwl:hasDbXref NCI:C37215 semapv:UnspecifiedMatching DOID:5474 ovarian serous adenofibroma oboInOwl:hasDbXref NCI:C40031 semapv:UnspecifiedMatching -DOID:5474 ovarian serous adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518729 semapv:UnspecifiedMatching +DOID:5474 ovarian serous adenofibroma oboInOwl:hasDbXref UMLS:C1518729 semapv:UnspecifiedMatching DOID:5475 uterine corpus adenofibroma oboInOwl:hasDbXref NCI:C6337 semapv:UnspecifiedMatching -DOID:5475 uterine corpus adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1336901 semapv:UnspecifiedMatching +DOID:5475 uterine corpus adenofibroma oboInOwl:hasDbXref UMLS:C1336901 semapv:UnspecifiedMatching DOID:5476 cervical adenofibroma oboInOwl:hasDbXref NCI:C40230 semapv:UnspecifiedMatching -DOID:5476 cervical adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1516402 semapv:UnspecifiedMatching +DOID:5476 cervical adenofibroma oboInOwl:hasDbXref UMLS:C1516402 semapv:UnspecifiedMatching DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref ICDO:8313/0 semapv:UnspecifiedMatching DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref MESH:D062625 semapv:UnspecifiedMatching DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref NCI:C8985 semapv:UnspecifiedMatching -DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334317 semapv:UnspecifiedMatching +DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref UMLS:C0334317 semapv:UnspecifiedMatching DOID:5478 fallopian tube adenofibroma oboInOwl:hasDbXref NCI:C40113 semapv:UnspecifiedMatching -DOID:5478 fallopian tube adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1517109 semapv:UnspecifiedMatching +DOID:5478 fallopian tube adenofibroma oboInOwl:hasDbXref UMLS:C1517109 semapv:UnspecifiedMatching DOID:5479 papillary adenofibroma oboInOwl:hasDbXref NCI:C8986 semapv:UnspecifiedMatching -DOID:5479 papillary adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1377850 semapv:UnspecifiedMatching +DOID:5479 papillary adenofibroma oboInOwl:hasDbXref UMLS:C1377850 semapv:UnspecifiedMatching DOID:5480 ovarian endometrioid adenofibroma oboInOwl:hasDbXref NCI:C27287 semapv:UnspecifiedMatching DOID:5482 cystadenofibroma oboInOwl:hasDbXref MESH:D062625 semapv:UnspecifiedMatching DOID:5482 cystadenofibroma oboInOwl:hasDbXref NCI:C8985 semapv:UnspecifiedMatching -DOID:5482 cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334317 semapv:UnspecifiedMatching +DOID:5482 cystadenofibroma oboInOwl:hasDbXref UMLS:C0334317 semapv:UnspecifiedMatching DOID:5484 fibrous synovial sarcoma oboInOwl:hasDbXref NCI:C6533 semapv:UnspecifiedMatching -DOID:5484 fibrous synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333616 semapv:UnspecifiedMatching +DOID:5484 fibrous synovial sarcoma oboInOwl:hasDbXref UMLS:C1333616 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref GARD:7721 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref ICDO:9040/3 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref MESH:D013584 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref NCI:C3400 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref OMIM:300813 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0039101 semapv:UnspecifiedMatching +DOID:5485 synovial sarcoma oboInOwl:hasDbXref UMLS:C0039101 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma skos:exactMatch OMIM:300813 semapv:UnspecifiedMatching DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref NCI:C4277 semapv:UnspecifiedMatching -DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334505 semapv:UnspecifiedMatching +DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref UMLS:C0334505 semapv:UnspecifiedMatching DOID:5488 mediastinum synovial sarcoma oboInOwl:hasDbXref NCI:C6618 semapv:UnspecifiedMatching -DOID:5488 mediastinum synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334681 semapv:UnspecifiedMatching +DOID:5488 mediastinum synovial sarcoma oboInOwl:hasDbXref UMLS:C1334681 semapv:UnspecifiedMatching DOID:5492 biphasic synovial sarcoma oboInOwl:hasDbXref NCI:C4279 semapv:UnspecifiedMatching -DOID:5492 biphasic synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334507 semapv:UnspecifiedMatching +DOID:5492 biphasic synovial sarcoma oboInOwl:hasDbXref UMLS:C0334507 semapv:UnspecifiedMatching DOID:5494 epithelioid cell synovial sarcoma oboInOwl:hasDbXref NCI:C4278 semapv:UnspecifiedMatching -DOID:5494 epithelioid cell synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334506 semapv:UnspecifiedMatching +DOID:5494 epithelioid cell synovial sarcoma oboInOwl:hasDbXref UMLS:C0334506 semapv:UnspecifiedMatching DOID:5495 monophasic synovial sarcoma oboInOwl:hasDbXref NCI:C6534 semapv:UnspecifiedMatching -DOID:5495 monophasic synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334801 semapv:UnspecifiedMatching +DOID:5495 monophasic synovial sarcoma oboInOwl:hasDbXref UMLS:C1334801 semapv:UnspecifiedMatching DOID:5500 cellular ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:5500 cellular ependymoma oboInOwl:hasDbXref NCI:C4713 semapv:UnspecifiedMatching -DOID:5500 cellular ependymoma oboInOwl:hasDbXref UMLS_CUI:C1384403 semapv:UnspecifiedMatching +DOID:5500 cellular ependymoma oboInOwl:hasDbXref UMLS:C1384403 semapv:UnspecifiedMatching DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref ICD10CM:B85.0 semapv:UnspecifiedMatching DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref ICD9CM:132.0 semapv:UnspecifiedMatching -DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref UMLS_CUI:C0030757 semapv:UnspecifiedMatching +DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref UMLS:C0030757 semapv:UnspecifiedMatching DOID:5502 lice infestation oboInOwl:hasDbXref ICD10CM:B85.2 semapv:UnspecifiedMatching DOID:5502 lice infestation oboInOwl:hasDbXref ICD9CM:132.9 semapv:UnspecifiedMatching DOID:5502 lice infestation oboInOwl:hasDbXref MESH:D010373 semapv:UnspecifiedMatching DOID:5502 lice infestation oboInOwl:hasDbXref NCI:C128401 semapv:UnspecifiedMatching -DOID:5502 lice infestation oboInOwl:hasDbXref UMLS_CUI:C0030756 semapv:UnspecifiedMatching +DOID:5502 lice infestation oboInOwl:hasDbXref UMLS:C0030756 semapv:UnspecifiedMatching DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:UnspecifiedMatching DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref NCI:C3875 semapv:UnspecifiedMatching -DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref UMLS_CUI:C0238432 semapv:UnspecifiedMatching +DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref UMLS:C0238432 semapv:UnspecifiedMatching DOID:5504 tanycytic ependymoma oboInOwl:hasDbXref NCI:C6903 semapv:UnspecifiedMatching -DOID:5504 tanycytic ependymoma oboInOwl:hasDbXref UMLS_CUI:C1370500 semapv:UnspecifiedMatching +DOID:5504 tanycytic ependymoma oboInOwl:hasDbXref UMLS:C1370500 semapv:UnspecifiedMatching DOID:5505 papillary ependymoma oboInOwl:hasDbXref ICDO:9393/3 semapv:UnspecifiedMatching DOID:5505 papillary ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:5505 papillary ependymoma oboInOwl:hasDbXref NCI:C4319 semapv:UnspecifiedMatching -DOID:5505 papillary ependymoma oboInOwl:hasDbXref UMLS_CUI:C0334578 semapv:UnspecifiedMatching +DOID:5505 papillary ependymoma oboInOwl:hasDbXref UMLS:C0334578 semapv:UnspecifiedMatching DOID:5508 brain stem ependymoma oboInOwl:hasDbXref NCI:C5098 semapv:UnspecifiedMatching -DOID:5508 brain stem ependymoma oboInOwl:hasDbXref UMLS_CUI:C1332609 semapv:UnspecifiedMatching +DOID:5508 brain stem ependymoma oboInOwl:hasDbXref UMLS:C1332609 semapv:UnspecifiedMatching DOID:5509 childhood ependymoma oboInOwl:hasDbXref NCI:C8578 semapv:UnspecifiedMatching DOID:551 toxic pneumonitis oboInOwl:hasDbXref ICD9CM:506.9 semapv:UnspecifiedMatching -DOID:551 toxic pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0041881 semapv:UnspecifiedMatching +DOID:551 toxic pneumonitis oboInOwl:hasDbXref UMLS:C0041881 semapv:UnspecifiedMatching DOID:5510 pineal dysgerminoma oboInOwl:hasDbXref NCI:C7169 semapv:UnspecifiedMatching -DOID:5510 pineal dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C1335415 semapv:UnspecifiedMatching +DOID:5510 pineal dysgerminoma oboInOwl:hasDbXref UMLS:C1335415 semapv:UnspecifiedMatching DOID:5511 dysgerminoma of ovary oboInOwl:hasDbXref NCI:C8106 semapv:UnspecifiedMatching -DOID:5511 dysgerminoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346185 semapv:UnspecifiedMatching +DOID:5511 dysgerminoma of ovary oboInOwl:hasDbXref UMLS:C0346185 semapv:UnspecifiedMatching DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref ICD10CM:B85.1 semapv:UnspecifiedMatching DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref ICD9CM:132.1 semapv:UnspecifiedMatching -DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref UMLS_CUI:C0030758 semapv:UnspecifiedMatching +DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref UMLS:C0030758 semapv:UnspecifiedMatching DOID:5514 breast squamous cell carcinoma oboInOwl:hasDbXref NCI:C5177 semapv:UnspecifiedMatching -DOID:5514 breast squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336079 semapv:UnspecifiedMatching +DOID:5514 breast squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1336079 semapv:UnspecifiedMatching DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref NCI:C8192 semapv:UnspecifiedMatching -DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280333 semapv:UnspecifiedMatching +DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0280333 semapv:UnspecifiedMatching DOID:5516 gastric squamous cell carcinoma oboInOwl:hasDbXref NCI:C5475 semapv:UnspecifiedMatching -DOID:5516 gastric squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333789 semapv:UnspecifiedMatching +DOID:5516 gastric squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333789 semapv:UnspecifiedMatching DOID:5517 stomach carcinoma oboInOwl:hasDbXref EFO:0000178 semapv:UnspecifiedMatching DOID:5517 stomach carcinoma oboInOwl:hasDbXref NCI:C4911 semapv:UnspecifiedMatching -DOID:5517 stomach carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699791 semapv:UnspecifiedMatching +DOID:5517 stomach carcinoma oboInOwl:hasDbXref UMLS:C0699791 semapv:UnspecifiedMatching DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref NCI:C6979 semapv:UnspecifiedMatching DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref NCI:C7729 semapv:UnspecifiedMatching -DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238348 semapv:UnspecifiedMatching -DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336081 semapv:UnspecifiedMatching +DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0238348 semapv:UnspecifiedMatching +DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1336081 semapv:UnspecifiedMatching DOID:5519 colon squamous cell carcinoma oboInOwl:hasDbXref NCI:C5490 semapv:UnspecifiedMatching -DOID:5519 colon squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333100 semapv:UnspecifiedMatching +DOID:5519 colon squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333100 semapv:UnspecifiedMatching DOID:552 pneumonia oboInOwl:hasDbXref MESH:D011014 semapv:UnspecifiedMatching DOID:552 pneumonia oboInOwl:hasDbXref NCI:C3333 semapv:UnspecifiedMatching -DOID:552 pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032285 semapv:UnspecifiedMatching +DOID:552 pneumonia oboInOwl:hasDbXref UMLS:C0032285 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref GARD:8503 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref NCI:C34447 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1168401 semapv:UnspecifiedMatching +DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1168401 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma skos:exactMatch OMIM:275355 semapv:UnspecifiedMatching DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C4105 semapv:UnspecifiedMatching -DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334247 semapv:UnspecifiedMatching +DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0334247 semapv:UnspecifiedMatching DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref ICDO:8083/3 semapv:UnspecifiedMatching DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C54244 semapv:UnspecifiedMatching -DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266005 semapv:UnspecifiedMatching +DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1266005 semapv:UnspecifiedMatching DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref NCI:C4200 semapv:UnspecifiedMatching -DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334250 semapv:UnspecifiedMatching -DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334393 semapv:UnspecifiedMatching +DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0334250 semapv:UnspecifiedMatching +DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0334393 semapv:UnspecifiedMatching DOID:5525 anal squamous cell carcinoma oboInOwl:hasDbXref NCI:C9161 semapv:UnspecifiedMatching -DOID:5525 anal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412036 semapv:UnspecifiedMatching +DOID:5525 anal squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1412036 semapv:UnspecifiedMatching DOID:5526 middle ear squamous cell carcinoma oboInOwl:hasDbXref NCI:C6086 semapv:UnspecifiedMatching -DOID:5526 middle ear squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334762 semapv:UnspecifiedMatching +DOID:5526 middle ear squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1334762 semapv:UnspecifiedMatching DOID:5527 ampulla of Vater squamous cell carcinoma oboInOwl:hasDbXref NCI:C27417 semapv:UnspecifiedMatching -DOID:5527 ampulla of Vater squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332251 semapv:UnspecifiedMatching +DOID:5527 ampulla of Vater squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1332251 semapv:UnspecifiedMatching DOID:5528 rectum squamous cell carcinoma oboInOwl:hasDbXref NCI:C5554 semapv:UnspecifiedMatching -DOID:5528 rectum squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335690 semapv:UnspecifiedMatching +DOID:5528 rectum squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1335690 semapv:UnspecifiedMatching DOID:5529 lacrimal gland squamous cell carcinoma oboInOwl:hasDbXref NCI:C6092 semapv:UnspecifiedMatching -DOID:5529 lacrimal gland squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C5447980 semapv:UnspecifiedMatching +DOID:5529 lacrimal gland squamous cell carcinoma oboInOwl:hasDbXref UMLS:C5447980 semapv:UnspecifiedMatching DOID:5530 thymus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6455 semapv:UnspecifiedMatching -DOID:5530 thymus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336082 semapv:UnspecifiedMatching +DOID:5530 thymus squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1336082 semapv:UnspecifiedMatching DOID:5531 ovarian squamous cell carcinoma oboInOwl:hasDbXref NCI:C40093 semapv:UnspecifiedMatching -DOID:5531 ovarian squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C2019443 semapv:UnspecifiedMatching +DOID:5531 ovarian squamous cell carcinoma oboInOwl:hasDbXref UMLS:C2019443 semapv:UnspecifiedMatching DOID:5533 endometrial squamous cell carcinoma oboInOwl:hasDbXref NCI:C8719 semapv:UnspecifiedMatching -DOID:5533 endometrial squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333396 semapv:UnspecifiedMatching +DOID:5533 endometrial squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333396 semapv:UnspecifiedMatching DOID:5534 renal pelvis squamous cell carcinoma oboInOwl:hasDbXref NCI:C7732 semapv:UnspecifiedMatching -DOID:5534 renal pelvis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238409 semapv:UnspecifiedMatching +DOID:5534 renal pelvis squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0238409 semapv:UnspecifiedMatching DOID:5535 gallbladder squamous cell carcinoma oboInOwl:hasDbXref NCI:C9170 semapv:UnspecifiedMatching -DOID:5535 gallbladder squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279658 semapv:UnspecifiedMatching +DOID:5535 gallbladder squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0279658 semapv:UnspecifiedMatching DOID:5536 sarcomatoid squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C27084 semapv:UnspecifiedMatching -DOID:5536 sarcomatoid squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349656 semapv:UnspecifiedMatching +DOID:5536 sarcomatoid squamous cell skin carcinoma oboInOwl:hasDbXref UMLS:C0349656 semapv:UnspecifiedMatching DOID:5537 squamous cell bile duct carcinoma oboInOwl:hasDbXref NCI:C5777 semapv:UnspecifiedMatching -DOID:5537 squamous cell bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861861 semapv:UnspecifiedMatching +DOID:5537 squamous cell bile duct carcinoma oboInOwl:hasDbXref UMLS:C0861861 semapv:UnspecifiedMatching DOID:5538 external ear squamous cell carcinoma oboInOwl:hasDbXref NCI:C6083 semapv:UnspecifiedMatching -DOID:5538 external ear squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333494 semapv:UnspecifiedMatching +DOID:5538 external ear squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333494 semapv:UnspecifiedMatching DOID:5539 ureter squamous cell carcinoma oboInOwl:hasDbXref NCI:C6154 semapv:UnspecifiedMatching -DOID:5539 ureter squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336879 semapv:UnspecifiedMatching +DOID:5539 ureter squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1336879 semapv:UnspecifiedMatching DOID:5540 fallopian tube squamous cell carcinoma oboInOwl:hasDbXref NCI:C6282 semapv:UnspecifiedMatching -DOID:5540 fallopian tube squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333596 semapv:UnspecifiedMatching +DOID:5540 fallopian tube squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333596 semapv:UnspecifiedMatching DOID:5545 anal neuroendocrine tumor oboInOwl:hasDbXref NCI:C5603 semapv:UnspecifiedMatching -DOID:5545 anal neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1332273 semapv:UnspecifiedMatching +DOID:5545 anal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1332273 semapv:UnspecifiedMatching DOID:5546 femoral cancer oboInOwl:hasDbXref MESH:D005266 semapv:UnspecifiedMatching -DOID:5546 femoral cancer oboInOwl:hasDbXref UMLS_CUI:C0015807 semapv:UnspecifiedMatching +DOID:5546 femoral cancer oboInOwl:hasDbXref UMLS:C0015807 semapv:UnspecifiedMatching DOID:5547 pulmonary artery choriocarcinoma oboInOwl:hasDbXref NCI:C5381 semapv:UnspecifiedMatching -DOID:5547 pulmonary artery choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335571 semapv:UnspecifiedMatching +DOID:5547 pulmonary artery choriocarcinoma oboInOwl:hasDbXref UMLS:C1335571 semapv:UnspecifiedMatching DOID:5550 choriocarcinoma of ovary oboInOwl:hasDbXref NCI:C4515 semapv:UnspecifiedMatching -DOID:5550 choriocarcinoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346181 semapv:UnspecifiedMatching +DOID:5550 choriocarcinoma of ovary oboInOwl:hasDbXref UMLS:C0346181 semapv:UnspecifiedMatching DOID:5551 choriocarcinoma of the testis oboInOwl:hasDbXref NCI:C7733 semapv:UnspecifiedMatching -DOID:5551 choriocarcinoma of the testis oboInOwl:hasDbXref UMLS_CUI:C0238449 semapv:UnspecifiedMatching +DOID:5551 choriocarcinoma of the testis oboInOwl:hasDbXref UMLS:C0238449 semapv:UnspecifiedMatching DOID:5553 pineal region choriocarcinoma oboInOwl:hasDbXref NCI:C6759 semapv:UnspecifiedMatching -DOID:5553 pineal region choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335414 semapv:UnspecifiedMatching +DOID:5553 pineal region choriocarcinoma oboInOwl:hasDbXref UMLS:C1335414 semapv:UnspecifiedMatching DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref NCI:C9063 semapv:UnspecifiedMatching -DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0855197 semapv:UnspecifiedMatching +DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref UMLS:C0855197 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref MESH:C563236 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref NCI:C8591 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref OMIM:300228 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref ORDO:3636504 semapv:UnspecifiedMatching -DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1336708 semapv:UnspecifiedMatching +DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref UMLS:C1336708 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref ICD10CM:C38.3 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref ICD9CM:164.9 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref MESH:D008479 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref NCI:C3221 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref NCI:C3549 semapv:UnspecifiedMatching -DOID:5559 mediastinal cancer oboInOwl:hasDbXref UMLS_CUI:C0025063 semapv:UnspecifiedMatching -DOID:5559 mediastinal cancer oboInOwl:hasDbXref UMLS_CUI:C0153504 semapv:UnspecifiedMatching +DOID:5559 mediastinal cancer oboInOwl:hasDbXref UMLS:C0025063 semapv:UnspecifiedMatching +DOID:5559 mediastinal cancer oboInOwl:hasDbXref UMLS:C0153504 semapv:UnspecifiedMatching DOID:5560 mediastinal mesenchymal tumor oboInOwl:hasDbXref NCI:C6637 semapv:UnspecifiedMatching -DOID:5560 mediastinal mesenchymal tumor oboInOwl:hasDbXref UMLS_CUI:C1334669 semapv:UnspecifiedMatching +DOID:5560 mediastinal mesenchymal tumor oboInOwl:hasDbXref UMLS:C1334669 semapv:UnspecifiedMatching DOID:5561 gastric teratoma oboInOwl:hasDbXref NCI:C5259 semapv:UnspecifiedMatching -DOID:5561 gastric teratoma oboInOwl:hasDbXref UMLS_CUI:C1333790 semapv:UnspecifiedMatching +DOID:5561 gastric teratoma oboInOwl:hasDbXref UMLS:C1333790 semapv:UnspecifiedMatching DOID:5563 malignant teratoma oboInOwl:hasDbXref ICDO:9080/3 semapv:UnspecifiedMatching DOID:5563 malignant teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching DOID:5563 malignant teratoma oboInOwl:hasDbXref NCI:C4286 semapv:UnspecifiedMatching DOID:5563 malignant teratoma oboInOwl:hasDbXref NCI:C8884 semapv:UnspecifiedMatching -DOID:5563 malignant teratoma oboInOwl:hasDbXref UMLS_CUI:C0334520 semapv:UnspecifiedMatching -DOID:5563 malignant teratoma oboInOwl:hasDbXref UMLS_CUI:C0855163 semapv:UnspecifiedMatching +DOID:5563 malignant teratoma oboInOwl:hasDbXref UMLS:C0334520 semapv:UnspecifiedMatching +DOID:5563 malignant teratoma oboInOwl:hasDbXref UMLS:C0855163 semapv:UnspecifiedMatching DOID:5564 fallopian tube teratoma oboInOwl:hasDbXref NCI:C40131 semapv:UnspecifiedMatching -DOID:5564 fallopian tube teratoma oboInOwl:hasDbXref UMLS_CUI:C1517127 semapv:UnspecifiedMatching +DOID:5564 fallopian tube teratoma oboInOwl:hasDbXref UMLS:C1517127 semapv:UnspecifiedMatching DOID:5565 adult teratoma oboInOwl:hasDbXref NCI:C9013 semapv:UnspecifiedMatching -DOID:5565 adult teratoma oboInOwl:hasDbXref UMLS_CUI:C1368898 semapv:UnspecifiedMatching +DOID:5565 adult teratoma oboInOwl:hasDbXref UMLS:C1368898 semapv:UnspecifiedMatching DOID:5566 mature teratoma oboInOwl:hasDbXref ICDO:9080/0 semapv:UnspecifiedMatching DOID:5566 mature teratoma oboInOwl:hasDbXref NCI:C9015 semapv:UnspecifiedMatching -DOID:5566 mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1368910 semapv:UnspecifiedMatching +DOID:5566 mature teratoma oboInOwl:hasDbXref UMLS:C1368910 semapv:UnspecifiedMatching DOID:5567 ovarian germ cell teratoma oboInOwl:hasDbXref NCI:C8110 semapv:UnspecifiedMatching -DOID:5567 ovarian germ cell teratoma oboInOwl:hasDbXref UMLS_CUI:C0280131 semapv:UnspecifiedMatching +DOID:5567 ovarian germ cell teratoma oboInOwl:hasDbXref UMLS:C0280131 semapv:UnspecifiedMatching DOID:5568 mediastinum teratoma oboInOwl:hasDbXref NCI:C6438 semapv:UnspecifiedMatching -DOID:5568 mediastinum teratoma oboInOwl:hasDbXref UMLS_CUI:C1334682 semapv:UnspecifiedMatching +DOID:5568 mediastinum teratoma oboInOwl:hasDbXref UMLS:C1334682 semapv:UnspecifiedMatching DOID:557 kidney disease oboInOwl:hasDbXref EFO:0003086 semapv:UnspecifiedMatching DOID:557 kidney disease oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:557 kidney disease oboInOwl:hasDbXref MESH:D007674 semapv:UnspecifiedMatching DOID:557 kidney disease oboInOwl:hasDbXref NCI:C3149 semapv:UnspecifiedMatching -DOID:557 kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022658 semapv:UnspecifiedMatching +DOID:557 kidney disease oboInOwl:hasDbXref UMLS:C0022658 semapv:UnspecifiedMatching DOID:5570 malignant acrospiroma oboInOwl:hasDbXref NCI:C43345 semapv:UnspecifiedMatching -DOID:5570 malignant acrospiroma oboInOwl:hasDbXref UMLS_CUI:C1260964 semapv:UnspecifiedMatching +DOID:5570 malignant acrospiroma oboInOwl:hasDbXref UMLS:C1260964 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref GARD:3343 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref NCI:C34415 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ORDO:116 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS_CUI:C0004903 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0004903 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome skos:exactMatch MESH:D001506 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome skos:exactMatch OMIM:130650 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref GARD:5493 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref ICDO:8155/3 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref NCI:C26749 semapv:UnspecifiedMatching -DOID:5574 VIPoma oboInOwl:hasDbXref UMLS_CUI:C0011993 semapv:UnspecifiedMatching +DOID:5574 VIPoma oboInOwl:hasDbXref UMLS:C0011993 semapv:UnspecifiedMatching DOID:5576 inhibited male orgasm oboInOwl:hasDbXref ICD10CM:F52.32 semapv:UnspecifiedMatching DOID:5576 inhibited male orgasm oboInOwl:hasDbXref NCI:C34959 semapv:UnspecifiedMatching -DOID:5576 inhibited male orgasm oboInOwl:hasDbXref UMLS_CUI:C0033949 semapv:UnspecifiedMatching +DOID:5576 inhibited male orgasm oboInOwl:hasDbXref UMLS:C0033949 semapv:UnspecifiedMatching DOID:5577 gastrinoma oboInOwl:hasDbXref ICDO:8153/3 semapv:UnspecifiedMatching DOID:5577 gastrinoma oboInOwl:hasDbXref MESH:D015408 semapv:UnspecifiedMatching DOID:5577 gastrinoma oboInOwl:hasDbXref NCI:C3050 semapv:UnspecifiedMatching -DOID:5577 gastrinoma oboInOwl:hasDbXref UMLS_CUI:C0017150 semapv:UnspecifiedMatching +DOID:5577 gastrinoma oboInOwl:hasDbXref UMLS:C0017150 semapv:UnspecifiedMatching DOID:5579 gastric gastrinoma oboInOwl:hasDbXref NCI:C27444 semapv:UnspecifiedMatching -DOID:5579 gastric gastrinoma oboInOwl:hasDbXref UMLS_CUI:C1333767 semapv:UnspecifiedMatching +DOID:5579 gastric gastrinoma oboInOwl:hasDbXref UMLS:C1333767 semapv:UnspecifiedMatching DOID:5580 pancreatic gastrinoma oboInOwl:hasDbXref NCI:C9069 semapv:UnspecifiedMatching -DOID:5580 pancreatic gastrinoma oboInOwl:hasDbXref UMLS_CUI:C1368066 semapv:UnspecifiedMatching +DOID:5580 pancreatic gastrinoma oboInOwl:hasDbXref UMLS:C1368066 semapv:UnspecifiedMatching DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref MESH:D018286 semapv:UnspecifiedMatching DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref NCI:C3779 semapv:UnspecifiedMatching DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref NCI:C4452 semapv:UnspecifiedMatching -DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206703 semapv:UnspecifiedMatching -DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345960 semapv:UnspecifiedMatching +DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref UMLS:C0206703 semapv:UnspecifiedMatching +DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref UMLS:C0345960 semapv:UnspecifiedMatching DOID:5585 Ferguson-Smith tumor oboInOwl:hasDbXref NCI:C4461 semapv:UnspecifiedMatching -DOID:5585 Ferguson-Smith tumor oboInOwl:hasDbXref UMLS_CUI:C0345982 semapv:UnspecifiedMatching +DOID:5585 Ferguson-Smith tumor oboInOwl:hasDbXref UMLS:C0345982 semapv:UnspecifiedMatching DOID:5587 Volkmann contracture oboInOwl:hasDbXref ICD10CM:T79.6 semapv:UnspecifiedMatching DOID:5587 Volkmann contracture oboInOwl:hasDbXref ICD9CM:958.6 semapv:UnspecifiedMatching DOID:5587 Volkmann contracture oboInOwl:hasDbXref MESH:D054061 semapv:UnspecifiedMatching DOID:5587 Volkmann contracture oboInOwl:hasDbXref NCI:C35130 semapv:UnspecifiedMatching -DOID:5587 Volkmann contracture oboInOwl:hasDbXref UMLS_CUI:C0042951 semapv:UnspecifiedMatching +DOID:5587 Volkmann contracture oboInOwl:hasDbXref UMLS:C0042951 semapv:UnspecifiedMatching DOID:5588 lung papillary adenocarcinoma oboInOwl:hasDbXref NCI:C5650 semapv:UnspecifiedMatching -DOID:5588 lung papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335325 semapv:UnspecifiedMatching +DOID:5588 lung papillary adenocarcinoma oboInOwl:hasDbXref UMLS:C1335325 semapv:UnspecifiedMatching DOID:559 acute pyelonephritis oboInOwl:hasDbXref ICD10CM:N10 semapv:UnspecifiedMatching DOID:559 acute pyelonephritis oboInOwl:hasDbXref ICD9CM:590.1 semapv:UnspecifiedMatching DOID:559 acute pyelonephritis oboInOwl:hasDbXref NCI:C123215 semapv:UnspecifiedMatching -DOID:559 acute pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0520575 semapv:UnspecifiedMatching -DOID:5591 eccrine papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1367774 semapv:UnspecifiedMatching +DOID:559 acute pyelonephritis oboInOwl:hasDbXref UMLS:C0520575 semapv:UnspecifiedMatching +DOID:5591 eccrine papillary adenocarcinoma oboInOwl:hasDbXref UMLS:C1367774 semapv:UnspecifiedMatching DOID:5592 breast papillary carcinoma oboInOwl:hasDbXref NCI:C6870 semapv:UnspecifiedMatching -DOID:5592 breast papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336027 semapv:UnspecifiedMatching +DOID:5592 breast papillary carcinoma oboInOwl:hasDbXref UMLS:C1336027 semapv:UnspecifiedMatching DOID:5593 gastric papillary adenocarcinoma oboInOwl:hasDbXref NCI:C5472 semapv:UnspecifiedMatching -DOID:5593 gastric papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333785 semapv:UnspecifiedMatching +DOID:5593 gastric papillary adenocarcinoma oboInOwl:hasDbXref UMLS:C1333785 semapv:UnspecifiedMatching DOID:5595 papillary thymic adenocarcinoma oboInOwl:hasDbXref NCI:C27937 semapv:UnspecifiedMatching -DOID:5595 papillary thymic adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335327 semapv:UnspecifiedMatching +DOID:5595 papillary thymic adenocarcinoma oboInOwl:hasDbXref UMLS:C1335327 semapv:UnspecifiedMatching DOID:5597 fallopian tube papillary adenocarcinoma oboInOwl:hasDbXref NCI:C6267 semapv:UnspecifiedMatching -DOID:5597 fallopian tube papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333595 semapv:UnspecifiedMatching +DOID:5597 fallopian tube papillary adenocarcinoma oboInOwl:hasDbXref UMLS:C1333595 semapv:UnspecifiedMatching DOID:5598 fallopian tube serous adenocarcinoma oboInOwl:hasDbXref NCI:C40099 semapv:UnspecifiedMatching -DOID:5598 fallopian tube serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517124 semapv:UnspecifiedMatching +DOID:5598 fallopian tube serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1517124 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref ICD10CM:Q07.8 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref ICD9CM:374.43 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref MESH:C535908 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref OMIM:154600 semapv:UnspecifiedMatching -DOID:560 jaw-winking syndrome oboInOwl:hasDbXref UMLS_CUI:C0266521 semapv:UnspecifiedMatching +DOID:560 jaw-winking syndrome oboInOwl:hasDbXref UMLS:C0266521 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome skos:exactMatch OMIM:154600 semapv:UnspecifiedMatching DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9142 semapv:UnspecifiedMatching -DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0279592 semapv:UnspecifiedMatching +DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0279592 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICDO:9729/3 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICDO:9837/3 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MESH:D015458 semapv:UnspecifiedMatching -DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023492 semapv:UnspecifiedMatching +DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0023492 semapv:UnspecifiedMatching DOID:5604 adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C4967 semapv:UnspecifiedMatching -DOID:5604 adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0751606 semapv:UnspecifiedMatching +DOID:5604 adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0751606 semapv:UnspecifiedMatching DOID:5605 breast medullary carcinoma oboInOwl:hasDbXref NCI:C9119 semapv:UnspecifiedMatching -DOID:5605 breast medullary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0860580 semapv:UnspecifiedMatching +DOID:5605 breast medullary carcinoma oboInOwl:hasDbXref UMLS:C0860580 semapv:UnspecifiedMatching DOID:5608 dental pulp calcification oboInOwl:hasDbXref ICD10CM:K04.2 semapv:UnspecifiedMatching DOID:5608 dental pulp calcification oboInOwl:hasDbXref MESH:D003784 semapv:UnspecifiedMatching -DOID:5608 dental pulp calcification oboInOwl:hasDbXref UMLS_CUI:C0011401 semapv:UnspecifiedMatching +DOID:5608 dental pulp calcification oboInOwl:hasDbXref UMLS:C0011401 semapv:UnspecifiedMatching DOID:561 trigeminal nerve disease oboInOwl:hasDbXref ICD9CM:350.8 semapv:UnspecifiedMatching -DOID:561 trigeminal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0029834 semapv:UnspecifiedMatching +DOID:561 trigeminal nerve disease oboInOwl:hasDbXref UMLS:C0029834 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref ICD10CM:C72.0 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref ICD9CM:192.2 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref MESH:D013120 semapv:UnspecifiedMatching @@ -32038,360 +32351,360 @@ DOID:5612 spinal cancer oboInOwl:hasDbXref MESH:D013125 semapv:UnspecifiedMatchi DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C168693 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C3381 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C3572 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0037930 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0037939 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0153646 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS:C0037930 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS:C0037939 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS:C0153646 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref ICD10CM:H44 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref ICD9CM:379.90 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref MESH:D005128 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref NCI:C26767 semapv:UnspecifiedMatching -DOID:5614 eye disease oboInOwl:hasDbXref UMLS_CUI:C0015397 semapv:UnspecifiedMatching +DOID:5614 eye disease oboInOwl:hasDbXref UMLS:C0015397 semapv:UnspecifiedMatching DOID:5615 spinal canal intradural extramedullary neoplasm oboInOwl:hasDbXref NCI:C5135 semapv:UnspecifiedMatching -DOID:5615 spinal canal intradural extramedullary neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334255 semapv:UnspecifiedMatching +DOID:5615 spinal canal intradural extramedullary neoplasm oboInOwl:hasDbXref UMLS:C1334255 semapv:UnspecifiedMatching DOID:562 third cranial nerve disease oboInOwl:hasDbXref NCI:C27598 semapv:UnspecifiedMatching -DOID:562 third cranial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0271353 semapv:UnspecifiedMatching +DOID:562 third cranial nerve disease oboInOwl:hasDbXref UMLS:C0271353 semapv:UnspecifiedMatching DOID:5621 histiocytic and dendritic cell cancer oboInOwl:hasDbXref NCI:C9294 semapv:UnspecifiedMatching -DOID:5621 histiocytic and dendritic cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334030 semapv:UnspecifiedMatching +DOID:5621 histiocytic and dendritic cell cancer oboInOwl:hasDbXref UMLS:C1334030 semapv:UnspecifiedMatching DOID:5623 adenosquamous breast carcinoma oboInOwl:hasDbXref NCI:C40361 semapv:UnspecifiedMatching -DOID:5623 adenosquamous breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1510796 semapv:UnspecifiedMatching +DOID:5623 adenosquamous breast carcinoma oboInOwl:hasDbXref UMLS:C1510796 semapv:UnspecifiedMatching DOID:5624 adenosquamous bile duct carcinoma oboInOwl:hasDbXref NCI:C5778 semapv:UnspecifiedMatching -DOID:5624 adenosquamous bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861854 semapv:UnspecifiedMatching +DOID:5624 adenosquamous bile duct carcinoma oboInOwl:hasDbXref UMLS:C0861854 semapv:UnspecifiedMatching DOID:5625 esophageal adenosquamous carcinoma oboInOwl:hasDbXref NCI:C27421 semapv:UnspecifiedMatching DOID:5626 thymus adenosquamous carcinoma oboInOwl:hasDbXref NCI:C6458 semapv:UnspecifiedMatching -DOID:5626 thymus adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332171 semapv:UnspecifiedMatching +DOID:5626 thymus adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C1332171 semapv:UnspecifiedMatching DOID:5627 adenosquamous gallbladder carcinoma oboInOwl:hasDbXref NCI:C7356 semapv:UnspecifiedMatching -DOID:5627 adenosquamous gallbladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333741 semapv:UnspecifiedMatching +DOID:5627 adenosquamous gallbladder carcinoma oboInOwl:hasDbXref UMLS:C1333741 semapv:UnspecifiedMatching DOID:5628 ampulla of Vater adenosquamous carcinoma oboInOwl:hasDbXref NCI:C27418 semapv:UnspecifiedMatching -DOID:5628 ampulla of Vater adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332245 semapv:UnspecifiedMatching +DOID:5628 ampulla of Vater adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C1332245 semapv:UnspecifiedMatching DOID:5629 adenosquamous colon carcinoma oboInOwl:hasDbXref NCI:C5491 semapv:UnspecifiedMatching -DOID:5629 adenosquamous colon carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333082 semapv:UnspecifiedMatching +DOID:5629 adenosquamous colon carcinoma oboInOwl:hasDbXref UMLS:C1333082 semapv:UnspecifiedMatching DOID:5630 Bartholin's gland adenosquamous carcinoma oboInOwl:hasDbXref NCI:C40296 semapv:UnspecifiedMatching -DOID:5630 Bartholin's gland adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511050 semapv:UnspecifiedMatching +DOID:5630 Bartholin's gland adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C1511050 semapv:UnspecifiedMatching DOID:5632 optic nerve sheath meningioma oboInOwl:hasDbXref NCI:C4538 semapv:UnspecifiedMatching -DOID:5632 optic nerve sheath meningioma oboInOwl:hasDbXref UMLS_CUI:C0346328 semapv:UnspecifiedMatching +DOID:5632 optic nerve sheath meningioma oboInOwl:hasDbXref UMLS:C0346328 semapv:UnspecifiedMatching DOID:5634 adenosquamous prostate carcinoma oboInOwl:hasDbXref NCI:C5538 semapv:UnspecifiedMatching -DOID:5634 adenosquamous prostate carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335503 semapv:UnspecifiedMatching +DOID:5634 adenosquamous prostate carcinoma oboInOwl:hasDbXref UMLS:C1335503 semapv:UnspecifiedMatching DOID:5635 gastric adenosquamous carcinoma oboInOwl:hasDbXref NCI:C5474 semapv:UnspecifiedMatching -DOID:5635 gastric adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333761 semapv:UnspecifiedMatching +DOID:5635 gastric adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C1333761 semapv:UnspecifiedMatching DOID:5636 cervical adenosquamous carcinoma oboInOwl:hasDbXref NCI:C4519 semapv:UnspecifiedMatching -DOID:5636 cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346202 semapv:UnspecifiedMatching +DOID:5636 cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C0346202 semapv:UnspecifiedMatching DOID:5637 pancreatic adenosquamous carcinoma oboInOwl:hasDbXref NCI:C5721 semapv:UnspecifiedMatching -DOID:5637 pancreatic adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335299 semapv:UnspecifiedMatching +DOID:5637 pancreatic adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C1335299 semapv:UnspecifiedMatching DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref ICDO:9251/3 semapv:UnspecifiedMatching DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref NCI:C8380 semapv:UnspecifiedMatching -DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref UMLS_CUI:C0334554 semapv:UnspecifiedMatching +DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref UMLS:C0334554 semapv:UnspecifiedMatching DOID:5639 rete testis neoplasm oboInOwl:hasDbXref NCI:C39955 semapv:UnspecifiedMatching -DOID:5639 rete testis neoplasm oboInOwl:hasDbXref UMLS_CUI:C1514912 semapv:UnspecifiedMatching +DOID:5639 rete testis neoplasm oboInOwl:hasDbXref UMLS:C1514912 semapv:UnspecifiedMatching DOID:5641 diffuse pulmonary fibrosis oboInOwl:hasDbXref NCI:C27216 semapv:UnspecifiedMatching -DOID:5641 diffuse pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0865849 semapv:UnspecifiedMatching +DOID:5641 diffuse pulmonary fibrosis oboInOwl:hasDbXref UMLS:C0865849 semapv:UnspecifiedMatching DOID:5642 localized pulmonary fibrosis oboInOwl:hasDbXref NCI:C27103 semapv:UnspecifiedMatching -DOID:5642 localized pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0340127 semapv:UnspecifiedMatching +DOID:5642 localized pulmonary fibrosis oboInOwl:hasDbXref UMLS:C0340127 semapv:UnspecifiedMatching DOID:5643 urethral villous adenoma oboInOwl:hasDbXref NCI:C39872 semapv:UnspecifiedMatching -DOID:5643 urethral villous adenoma oboInOwl:hasDbXref UMLS_CUI:C1519828 semapv:UnspecifiedMatching +DOID:5643 urethral villous adenoma oboInOwl:hasDbXref UMLS:C1519828 semapv:UnspecifiedMatching DOID:5644 tricuspid valve prolapse oboInOwl:hasDbXref MESH:D014263 semapv:UnspecifiedMatching -DOID:5644 tricuspid valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0040962 semapv:UnspecifiedMatching +DOID:5644 tricuspid valve prolapse oboInOwl:hasDbXref UMLS:C0040962 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref GARD:8238 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref ICDO:9390/3 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref MESH:C562943 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref NCI:C4533 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref NCI:C4715 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346289 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0431109 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref UMLS:C0346289 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref UMLS:C0431109 semapv:UnspecifiedMatching DOID:565 bilateral hypoactive labyrinth oboInOwl:hasDbXref ICD9CM:386.54 semapv:UnspecifiedMatching -DOID:565 bilateral hypoactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155518 semapv:UnspecifiedMatching +DOID:565 bilateral hypoactive labyrinth oboInOwl:hasDbXref UMLS:C0155518 semapv:UnspecifiedMatching DOID:5655 chiasmal syndrome oboInOwl:hasDbXref ICD10CM:H47.4 semapv:UnspecifiedMatching DOID:5655 chiasmal syndrome oboInOwl:hasDbXref ICD9CM:377.5 semapv:UnspecifiedMatching -DOID:5655 chiasmal syndrome oboInOwl:hasDbXref UMLS_CUI:C0155307 semapv:UnspecifiedMatching +DOID:5655 chiasmal syndrome oboInOwl:hasDbXref UMLS:C0155307 semapv:UnspecifiedMatching DOID:5656 cranial nerve disease oboInOwl:hasDbXref ICD10CM:G52.9 semapv:UnspecifiedMatching DOID:5656 cranial nerve disease oboInOwl:hasDbXref ICD9CM:352.9 semapv:UnspecifiedMatching DOID:5656 cranial nerve disease oboInOwl:hasDbXref MESH:D003389 semapv:UnspecifiedMatching DOID:5656 cranial nerve disease oboInOwl:hasDbXref NCI:C26733 semapv:UnspecifiedMatching -DOID:5656 cranial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0010266 semapv:UnspecifiedMatching +DOID:5656 cranial nerve disease oboInOwl:hasDbXref UMLS:C0010266 semapv:UnspecifiedMatching DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref ICDO:8314/3 semapv:UnspecifiedMatching DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref NCI:C4152 semapv:UnspecifiedMatching -DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334318 semapv:UnspecifiedMatching +DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref UMLS:C0334318 semapv:UnspecifiedMatching DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref ICD10CM:H83.2 semapv:UnspecifiedMatching DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref ICD9CM:386.5 semapv:UnspecifiedMatching -DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref UMLS_CUI:C0155514 semapv:UnspecifiedMatching +DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref UMLS:C0155514 semapv:UnspecifiedMatching DOID:5660 lymphoepithelioma-like carcinoma oboInOwl:hasDbXref NCI:C4107 semapv:UnspecifiedMatching -DOID:5660 lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334254 semapv:UnspecifiedMatching +DOID:5660 lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS:C0334254 semapv:UnspecifiedMatching DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref ICDO:8022/3 semapv:UnspecifiedMatching DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref NCI:C4094 semapv:UnspecifiedMatching -DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334233 semapv:UnspecifiedMatching +DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref UMLS:C0334233 semapv:UnspecifiedMatching DOID:5665 external ear cancer oboInOwl:hasDbXref NCI:C4653 semapv:UnspecifiedMatching -DOID:5665 external ear cancer oboInOwl:hasDbXref UMLS_CUI:C0349576 semapv:UnspecifiedMatching +DOID:5665 external ear cancer oboInOwl:hasDbXref UMLS:C0349576 semapv:UnspecifiedMatching DOID:5667 sweat gland carcinoma oboInOwl:hasDbXref NCI:C6938 semapv:UnspecifiedMatching -DOID:5667 sweat gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412016 semapv:UnspecifiedMatching +DOID:5667 sweat gland carcinoma oboInOwl:hasDbXref UMLS:C1412016 semapv:UnspecifiedMatching DOID:5670 comedo carcinoma oboInOwl:hasDbXref NCI:C4188 semapv:UnspecifiedMatching -DOID:5670 comedo carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334370 semapv:UnspecifiedMatching +DOID:5670 comedo carcinoma oboInOwl:hasDbXref UMLS:C0334370 semapv:UnspecifiedMatching DOID:5672 large intestine cancer oboInOwl:hasDbXref ICD10CM:C18.9 semapv:UnspecifiedMatching DOID:5672 large intestine cancer oboInOwl:hasDbXref NCI:C4978 semapv:UnspecifiedMatching -DOID:5672 large intestine cancer oboInOwl:hasDbXref UMLS_CUI:C0346629 semapv:UnspecifiedMatching +DOID:5672 large intestine cancer oboInOwl:hasDbXref UMLS:C0346629 semapv:UnspecifiedMatching DOID:5675 cribriform carcinoma oboInOwl:hasDbXref ICDO:8201/3 semapv:UnspecifiedMatching DOID:5675 cribriform carcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:5675 cribriform carcinoma oboInOwl:hasDbXref NCI:C3680 semapv:UnspecifiedMatching -DOID:5675 cribriform carcinoma oboInOwl:hasDbXref UMLS_CUI:C0205643 semapv:UnspecifiedMatching +DOID:5675 cribriform carcinoma oboInOwl:hasDbXref UMLS:C0205643 semapv:UnspecifiedMatching DOID:5677 malignant extragonadal nonseminomatous germ cell tumor oboInOwl:hasDbXref NCI:C8885 semapv:UnspecifiedMatching -DOID:5677 malignant extragonadal nonseminomatous germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334582 semapv:UnspecifiedMatching +DOID:5677 malignant extragonadal nonseminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C1334582 semapv:UnspecifiedMatching DOID:5678 nerve fibre bundle defect oboInOwl:hasDbXref ICD9CM:362.85 semapv:UnspecifiedMatching -DOID:5678 nerve fibre bundle defect oboInOwl:hasDbXref UMLS_CUI:C0474334 semapv:UnspecifiedMatching +DOID:5678 nerve fibre bundle defect oboInOwl:hasDbXref UMLS:C0474334 semapv:UnspecifiedMatching DOID:5679 retinal disease oboInOwl:hasDbXref ICD10CM:H35.9 semapv:UnspecifiedMatching DOID:5679 retinal disease oboInOwl:hasDbXref ICD9CM:362.9 semapv:UnspecifiedMatching DOID:5679 retinal disease oboInOwl:hasDbXref MESH:D012164 semapv:UnspecifiedMatching DOID:5679 retinal disease oboInOwl:hasDbXref NCI:C26875 semapv:UnspecifiedMatching -DOID:5679 retinal disease oboInOwl:hasDbXref UMLS_CUI:C0035309 semapv:UnspecifiedMatching +DOID:5679 retinal disease oboInOwl:hasDbXref UMLS:C0035309 semapv:UnspecifiedMatching DOID:5680 embryonal testis carcinoma oboInOwl:hasDbXref NCI:C6341 semapv:UnspecifiedMatching -DOID:5680 embryonal testis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238448 semapv:UnspecifiedMatching +DOID:5680 embryonal testis carcinoma oboInOwl:hasDbXref UMLS:C0238448 semapv:UnspecifiedMatching DOID:5681 ovarian embryonal carcinoma oboInOwl:hasDbXref NCI:C8108 semapv:UnspecifiedMatching -DOID:5681 ovarian embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346183 semapv:UnspecifiedMatching +DOID:5681 ovarian embryonal carcinoma oboInOwl:hasDbXref UMLS:C0346183 semapv:UnspecifiedMatching DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref MESH:D061325 semapv:UnspecifiedMatching DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref NCI:C8493 semapv:UnspecifiedMatching -DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref UMLS_CUI:C0677776 semapv:UnspecifiedMatching +DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C0677776 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref NCI:C92206 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref OMIM:271510 semapv:UnspecifiedMatching -DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref UMLS_CUI:C0920349 semapv:UnspecifiedMatching +DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref UMLS:C0920349 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type skos:exactMatch OMIM:271510 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref GARD:7885 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref NCI:C3447 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref OMIM:277700 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref ORDO:902 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome oboInOwl:hasDbXref UMLS_CUI:C0043119 semapv:UnspecifiedMatching +DOID:5688 Werner syndrome oboInOwl:hasDbXref UMLS:C0043119 semapv:UnspecifiedMatching DOID:5688 Werner syndrome skos:exactMatch OMIM:277700 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref NCI:C176979 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref ORDO:99971 semapv:UnspecifiedMatching -DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1370889 semapv:UnspecifiedMatching +DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref UMLS:C1370889 semapv:UnspecifiedMatching DOID:5691 visual cortex disease oboInOwl:hasDbXref ICD10CM:H47.6 semapv:UnspecifiedMatching DOID:5691 visual cortex disease oboInOwl:hasDbXref ICD9CM:377.7 semapv:UnspecifiedMatching DOID:5691 visual cortex disease oboInOwl:hasDbXref NCI:C35275 semapv:UnspecifiedMatching -DOID:5691 visual cortex disease oboInOwl:hasDbXref UMLS_CUI:C0234398 semapv:UnspecifiedMatching +DOID:5691 visual cortex disease oboInOwl:hasDbXref UMLS:C0234398 semapv:UnspecifiedMatching DOID:5692 cellular myxoid liposarcoma oboInOwl:hasDbXref NCI:C4252 semapv:UnspecifiedMatching -DOID:5692 cellular myxoid liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0334471 semapv:UnspecifiedMatching +DOID:5692 cellular myxoid liposarcoma oboInOwl:hasDbXref UMLS:C0334471 semapv:UnspecifiedMatching DOID:5693 adult liposarcoma oboInOwl:hasDbXref NCI:C7811 semapv:UnspecifiedMatching -DOID:5693 adult liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0278608 semapv:UnspecifiedMatching +DOID:5693 adult liposarcoma oboInOwl:hasDbXref UMLS:C0278608 semapv:UnspecifiedMatching DOID:5694 esophagus liposarcoma oboInOwl:hasDbXref NCI:C5705 semapv:UnspecifiedMatching -DOID:5694 esophagus liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1333456 semapv:UnspecifiedMatching +DOID:5694 esophagus liposarcoma oboInOwl:hasDbXref UMLS:C1333456 semapv:UnspecifiedMatching DOID:5695 childhood liposarcoma oboInOwl:hasDbXref NCI:C8091 semapv:UnspecifiedMatching -DOID:5695 childhood liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0279984 semapv:UnspecifiedMatching +DOID:5695 childhood liposarcoma oboInOwl:hasDbXref UMLS:C0279984 semapv:UnspecifiedMatching DOID:5696 larynx liposarcoma oboInOwl:hasDbXref NCI:C6021 semapv:UnspecifiedMatching -DOID:5696 larynx liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1334372 semapv:UnspecifiedMatching +DOID:5696 larynx liposarcoma oboInOwl:hasDbXref UMLS:C1334372 semapv:UnspecifiedMatching DOID:5697 liposarcoma of the ovary oboInOwl:hasDbXref NCI:C6419 semapv:UnspecifiedMatching -DOID:5697 liposarcoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1335165 semapv:UnspecifiedMatching +DOID:5697 liposarcoma of the ovary oboInOwl:hasDbXref UMLS:C1335165 semapv:UnspecifiedMatching DOID:5698 fibroblastic liposarcoma oboInOwl:hasDbXref ICDO:8857/3 semapv:UnspecifiedMatching DOID:5698 fibroblastic liposarcoma oboInOwl:hasDbXref NCI:C6509 semapv:UnspecifiedMatching -DOID:5698 fibroblastic liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1266130 semapv:UnspecifiedMatching +DOID:5698 fibroblastic liposarcoma oboInOwl:hasDbXref UMLS:C1266130 semapv:UnspecifiedMatching DOID:5699 kidney liposarcoma oboInOwl:hasDbXref NCI:C6185 semapv:UnspecifiedMatching -DOID:5699 kidney liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1335745 semapv:UnspecifiedMatching +DOID:5699 kidney liposarcoma oboInOwl:hasDbXref UMLS:C1335745 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref ICD10CM:I06.1 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref ICD9CM:395.1 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref ICD9CM:396.3 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref MESH:D001022 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref NCI:C51223 semapv:UnspecifiedMatching -DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0003504 semapv:UnspecifiedMatching -DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0155568 semapv:UnspecifiedMatching -DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0264774 semapv:UnspecifiedMatching +DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS:C0003504 semapv:UnspecifiedMatching +DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS:C0155568 semapv:UnspecifiedMatching +DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS:C0264774 semapv:UnspecifiedMatching DOID:5700 gastric liposarcoma oboInOwl:hasDbXref NCI:C5488 semapv:UnspecifiedMatching -DOID:5700 gastric liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1333778 semapv:UnspecifiedMatching +DOID:5700 gastric liposarcoma oboInOwl:hasDbXref UMLS:C1333778 semapv:UnspecifiedMatching DOID:5701 breast liposarcoma oboInOwl:hasDbXref NCI:C5187 semapv:UnspecifiedMatching -DOID:5701 breast liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1332632 semapv:UnspecifiedMatching +DOID:5701 breast liposarcoma oboInOwl:hasDbXref UMLS:C1332632 semapv:UnspecifiedMatching DOID:5702 pleomorphic liposarcoma oboInOwl:hasDbXref ICDO:8854/3 semapv:UnspecifiedMatching DOID:5702 pleomorphic liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching DOID:5702 pleomorphic liposarcoma oboInOwl:hasDbXref NCI:C3705 semapv:UnspecifiedMatching -DOID:5702 pleomorphic liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0205825 semapv:UnspecifiedMatching +DOID:5702 pleomorphic liposarcoma oboInOwl:hasDbXref UMLS:C0205825 semapv:UnspecifiedMatching DOID:5703 mixed liposarcoma oboInOwl:hasDbXref ICDO:8855/3 semapv:UnspecifiedMatching DOID:5703 mixed liposarcoma oboInOwl:hasDbXref NCI:C4253 semapv:UnspecifiedMatching -DOID:5703 mixed liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0334472 semapv:UnspecifiedMatching +DOID:5703 mixed liposarcoma oboInOwl:hasDbXref UMLS:C0334472 semapv:UnspecifiedMatching DOID:5704 sclerosing liposarcoma oboInOwl:hasDbXref NCI:C6507 semapv:UnspecifiedMatching -DOID:5704 sclerosing liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0334469 semapv:UnspecifiedMatching +DOID:5704 sclerosing liposarcoma oboInOwl:hasDbXref UMLS:C0334469 semapv:UnspecifiedMatching DOID:5705 spindle cell liposarcoma oboInOwl:hasDbXref NCI:C27489 semapv:UnspecifiedMatching -DOID:5705 spindle cell liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1275275 semapv:UnspecifiedMatching +DOID:5705 spindle cell liposarcoma oboInOwl:hasDbXref UMLS:C1275275 semapv:UnspecifiedMatching DOID:5709 mixed-type liposarcoma oboInOwl:hasDbXref NCI:C27781 semapv:UnspecifiedMatching -DOID:5709 mixed-type liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0545074 semapv:UnspecifiedMatching +DOID:5709 mixed-type liposarcoma oboInOwl:hasDbXref UMLS:C0545074 semapv:UnspecifiedMatching DOID:571 median neuropathy oboInOwl:hasDbXref ICD10CM:G56.10 semapv:UnspecifiedMatching DOID:571 median neuropathy oboInOwl:hasDbXref ICD9CM:354.1 semapv:UnspecifiedMatching -DOID:571 median neuropathy oboInOwl:hasDbXref UMLS_CUI:C0154742 semapv:UnspecifiedMatching +DOID:571 median neuropathy oboInOwl:hasDbXref UMLS:C0154742 semapv:UnspecifiedMatching DOID:5711 vulvar liposarcoma oboInOwl:hasDbXref NCI:C40321 semapv:UnspecifiedMatching DOID:5712 cutaneous liposarcoma oboInOwl:hasDbXref NCI:C5615 semapv:UnspecifiedMatching -DOID:5712 cutaneous liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1333175 semapv:UnspecifiedMatching +DOID:5712 cutaneous liposarcoma oboInOwl:hasDbXref UMLS:C1333175 semapv:UnspecifiedMatching DOID:5713 mediastinum liposarcoma oboInOwl:hasDbXref NCI:C6614 semapv:UnspecifiedMatching -DOID:5713 mediastinum liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1334663 semapv:UnspecifiedMatching +DOID:5713 mediastinum liposarcoma oboInOwl:hasDbXref UMLS:C1334663 semapv:UnspecifiedMatching DOID:5714 intracranial liposarcoma oboInOwl:hasDbXref NCI:C6973 semapv:UnspecifiedMatching -DOID:5714 intracranial liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1334242 semapv:UnspecifiedMatching +DOID:5714 intracranial liposarcoma oboInOwl:hasDbXref UMLS:C1334242 semapv:UnspecifiedMatching DOID:5715 functionless pituitary adenoma oboInOwl:hasDbXref NCI:C4348 semapv:UnspecifiedMatching -DOID:5715 functionless pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0338078 semapv:UnspecifiedMatching -DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0278864 semapv:UnspecifiedMatching +DOID:5715 functionless pituitary adenoma oboInOwl:hasDbXref UMLS:C0338078 semapv:UnspecifiedMatching +DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref UMLS:C0278864 semapv:UnspecifiedMatching DOID:5718 adrenal neuroblastoma oboInOwl:hasDbXref NCI:C4827 semapv:UnspecifiedMatching -DOID:5718 adrenal neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0559460 semapv:UnspecifiedMatching +DOID:5718 adrenal neuroblastoma oboInOwl:hasDbXref UMLS:C0559460 semapv:UnspecifiedMatching DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref GARD:5755 semapv:UnspecifiedMatching DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref ICD10CM:C74.1 semapv:UnspecifiedMatching DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref NCI:C4396 semapv:UnspecifiedMatching DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref NCI:C4856 semapv:UnspecifiedMatching -DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS_CUI:C0344456 semapv:UnspecifiedMatching -DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS_CUI:C0596046 semapv:UnspecifiedMatching +DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS:C0344456 semapv:UnspecifiedMatching +DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS:C0596046 semapv:UnspecifiedMatching DOID:572 mononeuritis of upper limb and mononeuritis multiplex oboInOwl:hasDbXref ICD9CM:354 semapv:UnspecifiedMatching -DOID:572 mononeuritis of upper limb and mononeuritis multiplex oboInOwl:hasDbXref UMLS_CUI:C0154741 semapv:UnspecifiedMatching +DOID:572 mononeuritis of upper limb and mononeuritis multiplex oboInOwl:hasDbXref UMLS:C0154741 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref ICD10CM:H47.2 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref ICD9CM:377.1 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref MESH:D009896 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref NCI:C34863 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref OMIMPS:165500 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref ORDO:98673 semapv:UnspecifiedMatching -DOID:5723 optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0029124 semapv:UnspecifiedMatching +DOID:5723 optic atrophy oboInOwl:hasDbXref UMLS:C0029124 semapv:UnspecifiedMatching DOID:5723 optic atrophy skos:exactMatch OMIMPS:165500 semapv:UnspecifiedMatching DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref NCI:C39907 semapv:UnspecifiedMatching -DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1519234 semapv:UnspecifiedMatching +DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref UMLS:C1519234 semapv:UnspecifiedMatching DOID:5725 rete ovarii cystadenoma oboInOwl:hasDbXref NCI:C40019 semapv:UnspecifiedMatching -DOID:5725 rete ovarii cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1514907 semapv:UnspecifiedMatching +DOID:5725 rete ovarii cystadenoma oboInOwl:hasDbXref UMLS:C1514907 semapv:UnspecifiedMatching DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease oboInOwl:hasDbXref NCI:C40142 semapv:UnspecifiedMatching -DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease oboInOwl:hasDbXref UMLS_CUI:C3642324 semapv:UnspecifiedMatching +DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C3642324 semapv:UnspecifiedMatching DOID:5727 uterine ligament cancer oboInOwl:hasDbXref NCI:C40133 semapv:UnspecifiedMatching -DOID:5727 uterine ligament cancer oboInOwl:hasDbXref UMLS_CUI:C1519870 semapv:UnspecifiedMatching +DOID:5727 uterine ligament cancer oboInOwl:hasDbXref UMLS:C1519870 semapv:UnspecifiedMatching DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref GARD:12843 semapv:UnspecifiedMatching DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref NCI:C3958 semapv:UnspecifiedMatching -DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0267785 semapv:UnspecifiedMatching +DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref UMLS:C0267785 semapv:UnspecifiedMatching DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref GARD:10802 semapv:UnspecifiedMatching DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref NCI:C4518 semapv:UnspecifiedMatching -DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0346200 semapv:UnspecifiedMatching +DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref UMLS:C0346200 semapv:UnspecifiedMatching DOID:573 nerve compression syndrome oboInOwl:hasDbXref MESH:D009408 semapv:UnspecifiedMatching DOID:573 nerve compression syndrome oboInOwl:hasDbXref NCI:C27221 semapv:UnspecifiedMatching -DOID:573 nerve compression syndrome oboInOwl:hasDbXref UMLS_CUI:C0027743 semapv:UnspecifiedMatching -DOID:573 nerve compression syndrome oboInOwl:hasDbXref UMLS_CUI:C1510429 semapv:UnspecifiedMatching +DOID:573 nerve compression syndrome oboInOwl:hasDbXref UMLS:C0027743 semapv:UnspecifiedMatching +DOID:573 nerve compression syndrome oboInOwl:hasDbXref UMLS:C1510429 semapv:UnspecifiedMatching DOID:5730 salpingitis isthmica nodosa oboInOwl:hasDbXref NCI:C40119 semapv:UnspecifiedMatching -DOID:5730 salpingitis isthmica nodosa oboInOwl:hasDbXref UMLS_CUI:C0269043 semapv:UnspecifiedMatching +DOID:5730 salpingitis isthmica nodosa oboInOwl:hasDbXref UMLS:C0269043 semapv:UnspecifiedMatching DOID:5731 chronic salpingitis oboInOwl:hasDbXref ICD10CM:N70.11 semapv:UnspecifiedMatching DOID:5731 chronic salpingitis oboInOwl:hasDbXref NCI:C40118 semapv:UnspecifiedMatching -DOID:5731 chronic salpingitis oboInOwl:hasDbXref UMLS_CUI:C0269041 semapv:UnspecifiedMatching +DOID:5731 chronic salpingitis oboInOwl:hasDbXref UMLS:C0269041 semapv:UnspecifiedMatching DOID:5732 pyosalpinx oboInOwl:hasDbXref ICD10CM:N70 semapv:UnspecifiedMatching DOID:5732 pyosalpinx oboInOwl:hasDbXref NCI:C34968 semapv:UnspecifiedMatching -DOID:5732 pyosalpinx oboInOwl:hasDbXref UMLS_CUI:C0034220 semapv:UnspecifiedMatching +DOID:5732 pyosalpinx oboInOwl:hasDbXref UMLS:C0034220 semapv:UnspecifiedMatching DOID:5733 salpingitis oboInOwl:hasDbXref ICD10CM:N70.91 semapv:UnspecifiedMatching DOID:5733 salpingitis oboInOwl:hasDbXref MESH:D012488 semapv:UnspecifiedMatching DOID:5733 salpingitis oboInOwl:hasDbXref NCI:C26880 semapv:UnspecifiedMatching -DOID:5733 salpingitis oboInOwl:hasDbXref UMLS_CUI:C0036130 semapv:UnspecifiedMatching +DOID:5733 salpingitis oboInOwl:hasDbXref UMLS:C0036130 semapv:UnspecifiedMatching DOID:574 peripheral nervous system disease oboInOwl:hasDbXref NCI:C119734 semapv:UnspecifiedMatching DOID:574 peripheral nervous system disease oboInOwl:hasDbXref NCI:C27587 semapv:UnspecifiedMatching -DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0031117 semapv:UnspecifiedMatching -DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS_CUI:C1335029 semapv:UnspecifiedMatching +DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS:C0031117 semapv:UnspecifiedMatching +DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS:C1335029 semapv:UnspecifiedMatching DOID:5740 small intestinal vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref NCI:C27455 semapv:UnspecifiedMatching -DOID:5740 small intestinal vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C1336009 semapv:UnspecifiedMatching +DOID:5740 small intestinal vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref UMLS:C1336009 semapv:UnspecifiedMatching DOID:5741 pancreatic vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref NCI:C95599 semapv:UnspecifiedMatching -DOID:5741 pancreatic vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C2033037 semapv:UnspecifiedMatching +DOID:5741 pancreatic vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref UMLS:C2033037 semapv:UnspecifiedMatching DOID:5742 pancreatic acinar cell adenocarcinoma oboInOwl:hasDbXref NCI:C7977 semapv:UnspecifiedMatching -DOID:5742 pancreatic acinar cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279661 semapv:UnspecifiedMatching +DOID:5742 pancreatic acinar cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0279661 semapv:UnspecifiedMatching DOID:5743 acinic cell breast carcinoma oboInOwl:hasDbXref NCI:C40367 semapv:UnspecifiedMatching -DOID:5743 acinic cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1515868 semapv:UnspecifiedMatching +DOID:5743 acinic cell breast carcinoma oboInOwl:hasDbXref UMLS:C1515868 semapv:UnspecifiedMatching DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref NCI:C40025 semapv:UnspecifiedMatching DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref NCI:C7550 semapv:UnspecifiedMatching -DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335177 semapv:UnspecifiedMatching -DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518234 semapv:UnspecifiedMatching +DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1335177 semapv:UnspecifiedMatching +DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1518234 semapv:UnspecifiedMatching DOID:5746 ovarian serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C7978 semapv:UnspecifiedMatching -DOID:5746 ovarian serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279663 semapv:UnspecifiedMatching +DOID:5746 ovarian serous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0279663 semapv:UnspecifiedMatching DOID:5747 uterine ligament serous adenocarcinoma oboInOwl:hasDbXref NCI:C40136 semapv:UnspecifiedMatching -DOID:5747 uterine ligament serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519872 semapv:UnspecifiedMatching +DOID:5747 uterine ligament serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1519872 semapv:UnspecifiedMatching DOID:5748 rheumatic pulmonary valve disease oboInOwl:hasDbXref ICD10CM:I09.89 semapv:UnspecifiedMatching DOID:5748 rheumatic pulmonary valve disease oboInOwl:hasDbXref ICD9CM:397.1 semapv:UnspecifiedMatching -DOID:5748 rheumatic pulmonary valve disease oboInOwl:hasDbXref UMLS_CUI:C0155579 semapv:UnspecifiedMatching +DOID:5748 rheumatic pulmonary valve disease oboInOwl:hasDbXref UMLS:C0155579 semapv:UnspecifiedMatching DOID:5749 pulmonary valve disease oboInOwl:hasDbXref ICD9CM:424.3 semapv:UnspecifiedMatching DOID:5749 pulmonary valve disease oboInOwl:hasDbXref NCI:C78579 semapv:UnspecifiedMatching -DOID:5749 pulmonary valve disease oboInOwl:hasDbXref UMLS_CUI:C0034087 semapv:UnspecifiedMatching +DOID:5749 pulmonary valve disease oboInOwl:hasDbXref UMLS:C0034087 semapv:UnspecifiedMatching DOID:5750 endometrial serous adenocarcinoma oboInOwl:hasDbXref NCI:C27838 semapv:UnspecifiedMatching -DOID:5750 endometrial serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0854924 semapv:UnspecifiedMatching +DOID:5750 endometrial serous adenocarcinoma oboInOwl:hasDbXref UMLS:C0854924 semapv:UnspecifiedMatching DOID:5751 pancreatic serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C5724 semapv:UnspecifiedMatching -DOID:5751 pancreatic serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335315 semapv:UnspecifiedMatching +DOID:5751 pancreatic serous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1335315 semapv:UnspecifiedMatching DOID:5752 cervical serous adenocarcinoma oboInOwl:hasDbXref NCI:C40201 semapv:UnspecifiedMatching -DOID:5752 cervical serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516431 semapv:UnspecifiedMatching +DOID:5752 cervical serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1516431 semapv:UnspecifiedMatching DOID:5757 endocervicitis oboInOwl:hasDbXref NCI:C26762 semapv:UnspecifiedMatching -DOID:5757 endocervicitis oboInOwl:hasDbXref UMLS_CUI:C0014127 semapv:UnspecifiedMatching +DOID:5757 endocervicitis oboInOwl:hasDbXref UMLS:C0014127 semapv:UnspecifiedMatching DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref GARD:3369 semapv:UnspecifiedMatching DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref MESH:C535700 semapv:UnspecifiedMatching DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref NCI:C4268 semapv:UnspecifiedMatching -DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0334492 semapv:UnspecifiedMatching +DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref UMLS:C0334492 semapv:UnspecifiedMatching DOID:5759 sebaceous gland neoplasm oboInOwl:hasDbXref MESH:D012626 semapv:UnspecifiedMatching DOID:5759 sebaceous gland neoplasm oboInOwl:hasDbXref NCI:C3363 semapv:UnspecifiedMatching -DOID:5759 sebaceous gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C0036503 semapv:UnspecifiedMatching +DOID:5759 sebaceous gland neoplasm oboInOwl:hasDbXref UMLS:C0036503 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref ICD10CM:R80 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref ICD9CM:791.0 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref MESH:D011507 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref NCI:C38012 semapv:UnspecifiedMatching -DOID:576 proteinuria oboInOwl:hasDbXref UMLS_CUI:C0033687 semapv:UnspecifiedMatching +DOID:576 proteinuria oboInOwl:hasDbXref UMLS:C0033687 semapv:UnspecifiedMatching DOID:5760 sebaceous breast carcinoma oboInOwl:hasDbXref NCI:C40369 semapv:UnspecifiedMatching -DOID:5760 sebaceous breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519207 semapv:UnspecifiedMatching +DOID:5760 sebaceous breast carcinoma oboInOwl:hasDbXref UMLS:C1519207 semapv:UnspecifiedMatching DOID:5761 vulvar sebaceous carcinoma oboInOwl:hasDbXref NCI:C40309 semapv:UnspecifiedMatching -DOID:5761 vulvar sebaceous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1520094 semapv:UnspecifiedMatching +DOID:5761 vulvar sebaceous carcinoma oboInOwl:hasDbXref UMLS:C1520094 semapv:UnspecifiedMatching DOID:5763 lung clear cell-sugar-tumor oboInOwl:hasDbXref NCI:C38152 semapv:UnspecifiedMatching -DOID:5763 lung clear cell-sugar-tumor oboInOwl:hasDbXref UMLS_CUI:C1333065 semapv:UnspecifiedMatching +DOID:5763 lung clear cell-sugar-tumor oboInOwl:hasDbXref UMLS:C1333065 semapv:UnspecifiedMatching DOID:5764 lung meningioma oboInOwl:hasDbXref NCI:C5276 semapv:UnspecifiedMatching DOID:5764 lung meningioma oboInOwl:hasDbXref NCI:C5668 semapv:UnspecifiedMatching -DOID:5764 lung meningioma oboInOwl:hasDbXref UMLS_CUI:C1334450 semapv:UnspecifiedMatching -DOID:5764 lung meningioma oboInOwl:hasDbXref UMLS_CUI:C1335488 semapv:UnspecifiedMatching +DOID:5764 lung meningioma oboInOwl:hasDbXref UMLS:C1334450 semapv:UnspecifiedMatching +DOID:5764 lung meningioma oboInOwl:hasDbXref UMLS:C1335488 semapv:UnspecifiedMatching DOID:5766 pulmonary sclerosing hemangioma oboInOwl:hasDbXref MESH:D047868 semapv:UnspecifiedMatching DOID:5766 pulmonary sclerosing hemangioma oboInOwl:hasDbXref NCI:C5656 semapv:UnspecifiedMatching -DOID:5766 pulmonary sclerosing hemangioma oboInOwl:hasDbXref UMLS_CUI:C1334455 semapv:UnspecifiedMatching +DOID:5766 pulmonary sclerosing hemangioma oboInOwl:hasDbXref UMLS:C1334455 semapv:UnspecifiedMatching DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref NCI:C5671 semapv:UnspecifiedMatching -DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref UMLS_CUI:C1290358 semapv:UnspecifiedMatching +DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref UMLS:C1290358 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref GARD:498 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref NCI:C35795 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching -DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C1332140 semapv:UnspecifiedMatching +DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref UMLS:C1332140 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis skos:exactMatch OMIM:154400 semapv:UnspecifiedMatching DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref NCI:C4478 semapv:UnspecifiedMatching -DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref UMLS_CUI:C0346054 semapv:UnspecifiedMatching +DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref UMLS:C0346054 semapv:UnspecifiedMatching DOID:5772 central nervous system hematologic cancer oboInOwl:hasDbXref NCI:C5503 semapv:UnspecifiedMatching -DOID:5772 central nervous system hematologic cancer oboInOwl:hasDbXref UMLS_CUI:C1332882 semapv:UnspecifiedMatching +DOID:5772 central nervous system hematologic cancer oboInOwl:hasDbXref UMLS:C1332882 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref GARD:7264 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref ICD10CM:K13.5 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref ICD9CM:528.8 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref MESH:D009914 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref NCI:C34866 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS_CUI:C0029171 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS_CUI:C0029172 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS:C0029171 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS:C0029172 semapv:UnspecifiedMatching DOID:5774 giant hemangioma oboInOwl:hasDbXref NCI:C27777 semapv:UnspecifiedMatching -DOID:5774 giant hemangioma oboInOwl:hasDbXref UMLS_CUI:C1333817 semapv:UnspecifiedMatching +DOID:5774 giant hemangioma oboInOwl:hasDbXref UMLS:C1333817 semapv:UnspecifiedMatching DOID:5775 cavernous hemangioma of colon oboInOwl:hasDbXref NCI:C5395 semapv:UnspecifiedMatching -DOID:5775 cavernous hemangioma of colon oboInOwl:hasDbXref UMLS_CUI:C1333086 semapv:UnspecifiedMatching +DOID:5775 cavernous hemangioma of colon oboInOwl:hasDbXref UMLS:C1333086 semapv:UnspecifiedMatching DOID:5776 cavernous hemangioma of face oboInOwl:hasDbXref NCI:C7053 semapv:UnspecifiedMatching -DOID:5776 cavernous hemangioma of face oboInOwl:hasDbXref UMLS_CUI:C1332863 semapv:UnspecifiedMatching +DOID:5776 cavernous hemangioma of face oboInOwl:hasDbXref UMLS:C1332863 semapv:UnspecifiedMatching DOID:5777 rectum neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5698 semapv:UnspecifiedMatching -DOID:5777 rectum neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335686 semapv:UnspecifiedMatching +DOID:5777 rectum neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C1335686 semapv:UnspecifiedMatching DOID:5781 atrophic flaccid tympanic membrane oboInOwl:hasDbXref ICD10CM:H73.81 semapv:UnspecifiedMatching DOID:5781 atrophic flaccid tympanic membrane oboInOwl:hasDbXref ICD9CM:384.81 semapv:UnspecifiedMatching -DOID:5781 atrophic flaccid tympanic membrane oboInOwl:hasDbXref UMLS_CUI:C0155470 semapv:UnspecifiedMatching +DOID:5781 atrophic flaccid tympanic membrane oboInOwl:hasDbXref UMLS:C0155470 semapv:UnspecifiedMatching DOID:5782 tympanic membrane disease oboInOwl:hasDbXref ICD10CM:H73.9 semapv:UnspecifiedMatching DOID:5782 tympanic membrane disease oboInOwl:hasDbXref ICD9CM:384.9 semapv:UnspecifiedMatching -DOID:5782 tympanic membrane disease oboInOwl:hasDbXref UMLS_CUI:C0041825 semapv:UnspecifiedMatching +DOID:5782 tympanic membrane disease oboInOwl:hasDbXref UMLS:C0041825 semapv:UnspecifiedMatching DOID:5784 esophageal neuroendocrine tumor oboInOwl:hasDbXref NCI:C5821 semapv:UnspecifiedMatching -DOID:5784 esophageal neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1333462 semapv:UnspecifiedMatching +DOID:5784 esophageal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1333462 semapv:UnspecifiedMatching DOID:5789 mixed hepatoblastoma oboInOwl:hasDbXref NCI:C7097 semapv:UnspecifiedMatching -DOID:5789 mixed hepatoblastoma oboInOwl:hasDbXref UMLS_CUI:C1334784 semapv:UnspecifiedMatching +DOID:5789 mixed hepatoblastoma oboInOwl:hasDbXref UMLS:C1334784 semapv:UnspecifiedMatching DOID:5798 macrotrabecular hepatoblastoma oboInOwl:hasDbXref NCI:C7095 semapv:UnspecifiedMatching -DOID:5798 macrotrabecular hepatoblastoma oboInOwl:hasDbXref UMLS_CUI:C1334543 semapv:UnspecifiedMatching +DOID:5798 macrotrabecular hepatoblastoma oboInOwl:hasDbXref UMLS:C1334543 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref ICD9CM:274.11 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref NCI:C123245 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref OMIM:605990 semapv:UnspecifiedMatching -DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref UMLS_CUI:C0403719 semapv:UnspecifiedMatching +DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref UMLS:C0403719 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis skos:exactMatch OMIM:605990 semapv:UnspecifiedMatching DOID:5804 discrete subaortic stenosis oboInOwl:hasDbXref MESH:D021922 semapv:UnspecifiedMatching -DOID:5804 discrete subaortic stenosis oboInOwl:hasDbXref UMLS_CUI:C0012628 semapv:UnspecifiedMatching +DOID:5804 discrete subaortic stenosis oboInOwl:hasDbXref UMLS:C0012628 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref GARD:5052 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref MESH:D001020 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref NCI:C85172 semapv:UnspecifiedMatching -DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref UMLS_CUI:C0340375 semapv:UnspecifiedMatching +DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0340375 semapv:UnspecifiedMatching DOID:5806 stork bite oboInOwl:hasDbXref OMIM:163100 semapv:UnspecifiedMatching DOID:5806 stork bite skos:exactMatch OMIM:163100 semapv:UnspecifiedMatching DOID:5809 childhood parosteal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6589 semapv:UnspecifiedMatching -DOID:5809 childhood parosteal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332994 semapv:UnspecifiedMatching +DOID:5809 childhood parosteal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1332994 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref GARD:5748 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref ICD10CM:D81.30 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref NCI:C3962 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref OMIM:102700 semapv:UnspecifiedMatching -DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268124 semapv:UnspecifiedMatching +DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref UMLS:C0268124 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency skos:exactMatch OMIM:102700 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref ICD10CM:D81.6 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref MESH:D016511 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref NCI:C3895 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref OMIM:209920 semapv:UnspecifiedMatching -DOID:5812 MHC class II deficiency oboInOwl:hasDbXref UMLS_CUI:C0242583 semapv:UnspecifiedMatching +DOID:5812 MHC class II deficiency oboInOwl:hasDbXref UMLS:C0242583 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency skos:exactMatch OMIM:209920 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref GARD:4606 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10CM:D81.5 semapv:UnspecifiedMatching @@ -32399,101 +32712,101 @@ DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref MESH:C56 DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref NCI:C176817 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref OMIM:613179 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ORDO:760 semapv:UnspecifiedMatching -DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268125 semapv:UnspecifiedMatching +DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0268125 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency skos:exactMatch OMIM:613179 semapv:UnspecifiedMatching DOID:5815 cerebral lymphoma oboInOwl:hasDbXref NCI:C7611 semapv:UnspecifiedMatching -DOID:5815 cerebral lymphoma oboInOwl:hasDbXref UMLS_CUI:C0240803 semapv:UnspecifiedMatching +DOID:5815 cerebral lymphoma oboInOwl:hasDbXref UMLS:C0240803 semapv:UnspecifiedMatching DOID:582 hemoglobinuria oboInOwl:hasDbXref ICD10CM:R82.3 semapv:UnspecifiedMatching DOID:582 hemoglobinuria oboInOwl:hasDbXref ICD9CM:791.2 semapv:UnspecifiedMatching DOID:582 hemoglobinuria oboInOwl:hasDbXref MESH:D006456 semapv:UnspecifiedMatching DOID:582 hemoglobinuria oboInOwl:hasDbXref NCI:C34677 semapv:UnspecifiedMatching -DOID:582 hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C0019048 semapv:UnspecifiedMatching +DOID:582 hemoglobinuria oboInOwl:hasDbXref UMLS:C0019048 semapv:UnspecifiedMatching DOID:5820 composite lymphoma oboInOwl:hasDbXref MESH:D058617 semapv:UnspecifiedMatching DOID:5820 composite lymphoma oboInOwl:hasDbXref NCI:C38661 semapv:UnspecifiedMatching -DOID:5820 composite lymphoma oboInOwl:hasDbXref UMLS_CUI:C0545080 semapv:UnspecifiedMatching -DOID:5821 methotrexate-associated lymphoproliferation oboInOwl:hasDbXref UMLS_CUI:C1334749 semapv:UnspecifiedMatching +DOID:5820 composite lymphoma oboInOwl:hasDbXref UMLS:C0545080 semapv:UnspecifiedMatching +DOID:5821 methotrexate-associated lymphoproliferation oboInOwl:hasDbXref UMLS:C1334749 semapv:UnspecifiedMatching DOID:5822 gray zone lymphoma oboInOwl:hasDbXref GARD:10897 semapv:UnspecifiedMatching DOID:5822 gray zone lymphoma oboInOwl:hasDbXref NCI:C37869 semapv:UnspecifiedMatching -DOID:5822 gray zone lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333878 semapv:UnspecifiedMatching +DOID:5822 gray zone lymphoma oboInOwl:hasDbXref UMLS:C1333878 semapv:UnspecifiedMatching DOID:5823 childhood lymphoma oboInOwl:hasDbXref NCI:C5165 semapv:UnspecifiedMatching -DOID:5823 childhood lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332979 semapv:UnspecifiedMatching +DOID:5823 childhood lymphoma oboInOwl:hasDbXref UMLS:C1332979 semapv:UnspecifiedMatching DOID:5825 adult lymphoma oboInOwl:hasDbXref NCI:C7587 semapv:UnspecifiedMatching -DOID:5825 adult lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332206 semapv:UnspecifiedMatching -DOID:5826 breast lymphoma oboInOwl:hasDbXref UMLS_CUI:C0349669 semapv:UnspecifiedMatching +DOID:5825 adult lymphoma oboInOwl:hasDbXref UMLS:C1332206 semapv:UnspecifiedMatching +DOID:5826 breast lymphoma oboInOwl:hasDbXref UMLS:C0349669 semapv:UnspecifiedMatching DOID:5828 endometrioid ovary carcinoma oboInOwl:hasDbXref NCI:C7979 semapv:UnspecifiedMatching -DOID:5828 endometrioid ovary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346163 semapv:UnspecifiedMatching +DOID:5828 endometrioid ovary carcinoma oboInOwl:hasDbXref UMLS:C0346163 semapv:UnspecifiedMatching DOID:5829 uterine ligament endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C40138 semapv:UnspecifiedMatching -DOID:5829 uterine ligament endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557430 semapv:UnspecifiedMatching +DOID:5829 uterine ligament endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C5557430 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref ICD10CM:D55-D59 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref MESH:D000743 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref NCI:C34376 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref OMIM:266120 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref OMIM:612631 semapv:UnspecifiedMatching -DOID:583 hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002878 semapv:UnspecifiedMatching +DOID:583 hemolytic anemia oboInOwl:hasDbXref UMLS:C0002878 semapv:UnspecifiedMatching DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C6343 semapv:UnspecifiedMatching -DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332913 semapv:UnspecifiedMatching +DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1332913 semapv:UnspecifiedMatching DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C40111 semapv:UnspecifiedMatching DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C6279 semapv:UnspecifiedMatching -DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333592 semapv:UnspecifiedMatching -DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517113 semapv:UnspecifiedMatching +DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1333592 semapv:UnspecifiedMatching +DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1517113 semapv:UnspecifiedMatching DOID:5834 spermatocytoma oboInOwl:hasDbXref NCI:C39921 semapv:UnspecifiedMatching -DOID:5834 spermatocytoma oboInOwl:hasDbXref UMLS_CUI:C0334517 semapv:UnspecifiedMatching +DOID:5834 spermatocytoma oboInOwl:hasDbXref UMLS:C0334517 semapv:UnspecifiedMatching DOID:5838 extragonadal seminoma oboInOwl:hasDbXref NCI:C7327 semapv:UnspecifiedMatching -DOID:5838 extragonadal seminoma oboInOwl:hasDbXref UMLS_CUI:C1333502 semapv:UnspecifiedMatching +DOID:5838 extragonadal seminoma oboInOwl:hasDbXref UMLS:C1333502 semapv:UnspecifiedMatching DOID:5842 testis seminoma oboInOwl:hasDbXref MESH:D018239 semapv:UnspecifiedMatching DOID:5842 testis seminoma oboInOwl:hasDbXref NCI:C9309 semapv:UnspecifiedMatching -DOID:5842 testis seminoma oboInOwl:hasDbXref UMLS_CUI:C0036631 semapv:UnspecifiedMatching +DOID:5842 testis seminoma oboInOwl:hasDbXref UMLS:C0036631 semapv:UnspecifiedMatching DOID:5843 posteroinferior myocardial infarction oboInOwl:hasDbXref NCI:C36068 semapv:UnspecifiedMatching -DOID:5843 posteroinferior myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642318 semapv:UnspecifiedMatching +DOID:5843 posteroinferior myocardial infarction oboInOwl:hasDbXref UMLS:C3642318 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref EFO:0000612 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref ICD10CM:I21 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref MESH:D009203 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref NCI:C27996 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref OMIM:608557 semapv:UnspecifiedMatching -DOID:5844 myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0027051 semapv:UnspecifiedMatching +DOID:5844 myocardial infarction oboInOwl:hasDbXref UMLS:C0027051 semapv:UnspecifiedMatching DOID:5844 myocardial infarction skos:exactMatch OMIM:608557 semapv:UnspecifiedMatching DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref MESH:D056988 semapv:UnspecifiedMatching -DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0262564 semapv:UnspecifiedMatching -DOID:5846 septal myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0746727 semapv:UnspecifiedMatching -DOID:5847 posterior myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340319 semapv:UnspecifiedMatching +DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref UMLS:C0262564 semapv:UnspecifiedMatching +DOID:5846 septal myocardial infarction oboInOwl:hasDbXref UMLS:C0746727 semapv:UnspecifiedMatching +DOID:5847 posterior myocardial infarction oboInOwl:hasDbXref UMLS:C0340319 semapv:UnspecifiedMatching DOID:5848 apical myocardial infarction oboInOwl:hasDbXref NCI:C36073 semapv:UnspecifiedMatching -DOID:5848 apical myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642319 semapv:UnspecifiedMatching +DOID:5848 apical myocardial infarction oboInOwl:hasDbXref UMLS:C3642319 semapv:UnspecifiedMatching DOID:5849 subendocardial myocardial infarction oboInOwl:hasDbXref NCI:C35305 semapv:UnspecifiedMatching -DOID:5849 subendocardial myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642476 semapv:UnspecifiedMatching +DOID:5849 subendocardial myocardial infarction oboInOwl:hasDbXref UMLS:C3642476 semapv:UnspecifiedMatching DOID:585 nephrolithiasis oboInOwl:hasDbXref EFO:0004253 semapv:UnspecifiedMatching DOID:585 nephrolithiasis oboInOwl:hasDbXref ICD10CM:N20 semapv:UnspecifiedMatching DOID:585 nephrolithiasis oboInOwl:hasDbXref ICD9CM:592 semapv:UnspecifiedMatching -DOID:585 nephrolithiasis oboInOwl:hasDbXref UMLS_CUI:C0156257 semapv:UnspecifiedMatching +DOID:585 nephrolithiasis oboInOwl:hasDbXref UMLS:C0156257 semapv:UnspecifiedMatching DOID:585 nephrolithiasis skos:exactMatch MESH:D053040 semapv:UnspecifiedMatching DOID:5850 inferior myocardial infarction oboInOwl:hasDbXref MESH:D056989 semapv:UnspecifiedMatching -DOID:5850 inferior myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340305 semapv:UnspecifiedMatching +DOID:5850 inferior myocardial infarction oboInOwl:hasDbXref UMLS:C0340305 semapv:UnspecifiedMatching DOID:5851 posterolateral myocardial infarction oboInOwl:hasDbXref NCI:C35672 semapv:UnspecifiedMatching -DOID:5851 posterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642463 semapv:UnspecifiedMatching +DOID:5851 posterolateral myocardial infarction oboInOwl:hasDbXref UMLS:C3642463 semapv:UnspecifiedMatching DOID:5852 inferolateral myocardial infarct oboInOwl:hasDbXref NCI:C35673 semapv:UnspecifiedMatching -DOID:5852 inferolateral myocardial infarct oboInOwl:hasDbXref UMLS_CUI:C3537017 semapv:UnspecifiedMatching -DOID:5853 lateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340312 semapv:UnspecifiedMatching +DOID:5852 inferolateral myocardial infarct oboInOwl:hasDbXref UMLS:C3537017 semapv:UnspecifiedMatching +DOID:5853 lateral myocardial infarction oboInOwl:hasDbXref UMLS:C0340312 semapv:UnspecifiedMatching DOID:5854 silent myocardial infarction oboInOwl:hasDbXref NCI:C35400 semapv:UnspecifiedMatching -DOID:5854 silent myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340324 semapv:UnspecifiedMatching +DOID:5854 silent myocardial infarction oboInOwl:hasDbXref UMLS:C0340324 semapv:UnspecifiedMatching DOID:5855 anteroseptal myocardial infarction oboInOwl:hasDbXref MESH:D056988 semapv:UnspecifiedMatching -DOID:5855 anteroseptal myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0262565 semapv:UnspecifiedMatching +DOID:5855 anteroseptal myocardial infarction oboInOwl:hasDbXref UMLS:C0262565 semapv:UnspecifiedMatching DOID:5859 periosteal chondrosarcoma oboInOwl:hasDbXref ICDO:9221/3 semapv:UnspecifiedMatching DOID:5861 myxoid chondrosarcoma oboInOwl:hasDbXref ICDO:9231/3 semapv:UnspecifiedMatching -DOID:5861 myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334551 semapv:UnspecifiedMatching +DOID:5861 myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C0334551 semapv:UnspecifiedMatching DOID:5862 localized chondrosarcoma oboInOwl:hasDbXref NCI:C8778 semapv:UnspecifiedMatching -DOID:5862 localized chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0855011 semapv:UnspecifiedMatching +DOID:5862 localized chondrosarcoma oboInOwl:hasDbXref UMLS:C0855011 semapv:UnspecifiedMatching DOID:5866 juxtacortical chondrosarcoma oboInOwl:hasDbXref NCI:C7357 semapv:UnspecifiedMatching -DOID:5866 juxtacortical chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334549 semapv:UnspecifiedMatching +DOID:5866 juxtacortical chondrosarcoma oboInOwl:hasDbXref UMLS:C0334549 semapv:UnspecifiedMatching DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref ICDO:9242/3 semapv:UnspecifiedMatching DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref MESH:D000077207 semapv:UnspecifiedMatching DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref NCI:C6475 semapv:UnspecifiedMatching -DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266167 semapv:UnspecifiedMatching +DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref UMLS:C1266167 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref GARD:107 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref ICD10CM:J82.81 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref MESH:D011657 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref NCI:C35150 semapv:UnspecifiedMatching -DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref UMLS_CUI:C1527407 semapv:UnspecifiedMatching +DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C1527407 semapv:UnspecifiedMatching DOID:5874 retroperitoneal germ cell neoplasm oboInOwl:hasDbXref NCI:C6447 semapv:UnspecifiedMatching -DOID:5874 retroperitoneal germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335776 semapv:UnspecifiedMatching +DOID:5874 retroperitoneal germ cell neoplasm oboInOwl:hasDbXref UMLS:C1335776 semapv:UnspecifiedMatching DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref ICD10CM:C48 semapv:UnspecifiedMatching DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref ICD10CM:C48.0 semapv:UnspecifiedMatching DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref ICD9CM:158 semapv:UnspecifiedMatching @@ -32501,70 +32814,70 @@ DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref ICD9CM:158.0 semapv:Unspecif DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref MESH:D012186 semapv:UnspecifiedMatching DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref NCI:C3357 semapv:UnspecifiedMatching DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref NCI:C3537 semapv:UnspecifiedMatching -DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref UMLS_CUI:C0035358 semapv:UnspecifiedMatching -DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref UMLS_CUI:C0153464 semapv:UnspecifiedMatching -DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref UMLS_CUI:C0153465 semapv:UnspecifiedMatching +DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref UMLS:C0035358 semapv:UnspecifiedMatching +DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref UMLS:C0153464 semapv:UnspecifiedMatching +DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref UMLS:C0153465 semapv:UnspecifiedMatching DOID:5876 apocrine sweat gland neoplasm oboInOwl:hasDbXref NCI:C6798 semapv:UnspecifiedMatching -DOID:5876 apocrine sweat gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332318 semapv:UnspecifiedMatching +DOID:5876 apocrine sweat gland neoplasm oboInOwl:hasDbXref UMLS:C1332318 semapv:UnspecifiedMatching DOID:5877 endocardium cancer oboInOwl:hasDbXref NCI:C4570 semapv:UnspecifiedMatching DOID:5877 endocardium cancer oboInOwl:hasDbXref NCI:C5346 semapv:UnspecifiedMatching -DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346612 semapv:UnspecifiedMatching -DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290401 semapv:UnspecifiedMatching +DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS:C0346612 semapv:UnspecifiedMatching +DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS:C1290401 semapv:UnspecifiedMatching DOID:5884 benign intermediate mesothelioma oboInOwl:hasDbXref NCI:C7635 semapv:UnspecifiedMatching -DOID:5884 benign intermediate mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1337012 semapv:UnspecifiedMatching +DOID:5884 benign intermediate mesothelioma oboInOwl:hasDbXref UMLS:C1337012 semapv:UnspecifiedMatching DOID:5889 anaplastic ependymoma oboInOwl:hasDbXref ICDO:9392/3 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref GARD:6167 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref ICD10CM:D58.9 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref ICD9CM:282 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref MESH:D000745 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref NCI:C34379 semapv:UnspecifiedMatching -DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002881 semapv:UnspecifiedMatching +DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref UMLS:C0002881 semapv:UnspecifiedMatching DOID:5890 malignant adult ependymoma oboInOwl:hasDbXref NCI:C8269 semapv:UnspecifiedMatching -DOID:5890 malignant adult ependymoma oboInOwl:hasDbXref UMLS_CUI:C0280787 semapv:UnspecifiedMatching +DOID:5890 malignant adult ependymoma oboInOwl:hasDbXref UMLS:C0280787 semapv:UnspecifiedMatching DOID:5893 childhood malignant mesenchymoma oboInOwl:hasDbXref NCI:C8097 semapv:UnspecifiedMatching -DOID:5893 childhood malignant mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0279991 semapv:UnspecifiedMatching +DOID:5893 childhood malignant mesenchymoma oboInOwl:hasDbXref UMLS:C0279991 semapv:UnspecifiedMatching DOID:5894 adult malignant mesenchymoma oboInOwl:hasDbXref NCI:C7947 semapv:UnspecifiedMatching -DOID:5894 adult malignant mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0279548 semapv:UnspecifiedMatching +DOID:5894 adult malignant mesenchymoma oboInOwl:hasDbXref UMLS:C0279548 semapv:UnspecifiedMatching DOID:5895 clear cell cystadenofibroma oboInOwl:hasDbXref NCI:C8988 semapv:UnspecifiedMatching -DOID:5895 clear cell cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1377853 semapv:UnspecifiedMatching +DOID:5895 clear cell cystadenofibroma oboInOwl:hasDbXref UMLS:C1377853 semapv:UnspecifiedMatching DOID:5896 ovarian clear cell cystadenofibroma oboInOwl:hasDbXref NCI:C40086 semapv:UnspecifiedMatching -DOID:5896 ovarian clear cell cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518695 semapv:UnspecifiedMatching +DOID:5896 ovarian clear cell cystadenofibroma oboInOwl:hasDbXref UMLS:C1518695 semapv:UnspecifiedMatching DOID:5897 ovarian clear cell adenofibroma oboInOwl:hasDbXref NCI:C40085 semapv:UnspecifiedMatching -DOID:5897 ovarian clear cell adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518694 semapv:UnspecifiedMatching +DOID:5897 ovarian clear cell adenofibroma oboInOwl:hasDbXref UMLS:C1518694 semapv:UnspecifiedMatching DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref ICDO:8728/1 semapv:UnspecifiedMatching DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref NCI:C4662 semapv:UnspecifiedMatching DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref ORDO:252046 semapv:UnspecifiedMatching -DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref UMLS_CUI:C1266113 semapv:UnspecifiedMatching +DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref UMLS:C1266113 semapv:UnspecifiedMatching DOID:5907 penis non-invasive verrucous carcinoma oboInOwl:hasDbXref NCI:C27791 semapv:UnspecifiedMatching -DOID:5907 penis non-invasive verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334984 semapv:UnspecifiedMatching +DOID:5907 penis non-invasive verrucous carcinoma oboInOwl:hasDbXref UMLS:C1334984 semapv:UnspecifiedMatching DOID:5908 penis verrucous carcinoma oboInOwl:hasDbXref NCI:C6982 semapv:UnspecifiedMatching -DOID:5908 penis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336955 semapv:UnspecifiedMatching +DOID:5908 penis verrucous carcinoma oboInOwl:hasDbXref UMLS:C1336955 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref ICD10CM:F40 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref ICD9CM:300.20 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref MESH:D010698 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref NCI:C35420 semapv:UnspecifiedMatching -DOID:591 phobic disorder oboInOwl:hasDbXref UMLS_CUI:C0349231 semapv:UnspecifiedMatching +DOID:591 phobic disorder oboInOwl:hasDbXref UMLS:C0349231 semapv:UnspecifiedMatching DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref NCI:C5823 semapv:UnspecifiedMatching -DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332602 semapv:UnspecifiedMatching +DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref UMLS:C1332602 semapv:UnspecifiedMatching DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref ICDO:8350/3 semapv:UnspecifiedMatching DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref NCI:C7427 semapv:UnspecifiedMatching -DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334330 semapv:UnspecifiedMatching +DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref UMLS:C0334330 semapv:UnspecifiedMatching DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref NCI:C40170 semapv:UnspecifiedMatching -DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C1519855 semapv:UnspecifiedMatching +DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref UMLS:C1519855 semapv:UnspecifiedMatching DOID:5921 adult brainstem mixed glioma oboInOwl:hasDbXref NCI:C9371 semapv:UnspecifiedMatching -DOID:5921 adult brainstem mixed glioma oboInOwl:hasDbXref UMLS_CUI:C1377915 semapv:UnspecifiedMatching +DOID:5921 adult brainstem mixed glioma oboInOwl:hasDbXref UMLS:C1377915 semapv:UnspecifiedMatching DOID:5922 adult brainstem astrocytoma oboInOwl:hasDbXref NCI:C6954 semapv:UnspecifiedMatching -DOID:5922 adult brainstem astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1332191 semapv:UnspecifiedMatching +DOID:5922 adult brainstem astrocytoma oboInOwl:hasDbXref UMLS:C1332191 semapv:UnspecifiedMatching DOID:5923 distal biliary tract carcinoma oboInOwl:hasDbXref NCI:C7109 semapv:UnspecifiedMatching -DOID:5923 distal biliary tract carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333308 semapv:UnspecifiedMatching +DOID:5923 distal biliary tract carcinoma oboInOwl:hasDbXref UMLS:C1333308 semapv:UnspecifiedMatching DOID:5926 extrahepatic bile duct small cell adenocarcinoma oboInOwl:hasDbXref NCI:C5845 semapv:UnspecifiedMatching -DOID:5926 extrahepatic bile duct small cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335979 semapv:UnspecifiedMatching +DOID:5926 extrahepatic bile duct small cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1335979 semapv:UnspecifiedMatching DOID:593 agoraphobia oboInOwl:hasDbXref ICD10CM:F40.0 semapv:UnspecifiedMatching DOID:593 agoraphobia oboInOwl:hasDbXref MESH:D000379 semapv:UnspecifiedMatching DOID:593 agoraphobia oboInOwl:hasDbXref NCI:C34362 semapv:UnspecifiedMatching -DOID:593 agoraphobia oboInOwl:hasDbXref UMLS_CUI:C0001818 semapv:UnspecifiedMatching +DOID:593 agoraphobia oboInOwl:hasDbXref UMLS:C0001818 semapv:UnspecifiedMatching DOID:5936 ovarian mixed germ cell neoplasm oboInOwl:hasDbXref NCI:C8114 semapv:UnspecifiedMatching -DOID:5936 ovarian mixed germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0280135 semapv:UnspecifiedMatching +DOID:5936 ovarian mixed germ cell neoplasm oboInOwl:hasDbXref UMLS:C0280135 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref EFO:0004262 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref ICD10CM:F41.0 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref MESH:D016584 semapv:UnspecifiedMatching @@ -32572,53 +32885,53 @@ DOID:594 panic disorder oboInOwl:hasDbXref NCI:C34890 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref OMIM:167870 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref OMIM:607853 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref OMIM:609985 semapv:UnspecifiedMatching -DOID:594 panic disorder oboInOwl:hasDbXref UMLS_CUI:C0030319 semapv:UnspecifiedMatching +DOID:594 panic disorder oboInOwl:hasDbXref UMLS:C0030319 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref GARD:10872 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICDO:9540/3 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref MESH:D018319 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C3798 semapv:UnspecifiedMatching -DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C0751690 semapv:UnspecifiedMatching +DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C0751690 semapv:UnspecifiedMatching DOID:5948 angiokeratoma of mibelli oboInOwl:hasDbXref NCI:C3927 semapv:UnspecifiedMatching -DOID:5948 angiokeratoma of mibelli oboInOwl:hasDbXref UMLS_CUI:C0263640 semapv:UnspecifiedMatching +DOID:5948 angiokeratoma of mibelli oboInOwl:hasDbXref UMLS:C0263640 semapv:UnspecifiedMatching DOID:5949 angiokeratoma circumscriptum oboInOwl:hasDbXref NCI:C7751 semapv:UnspecifiedMatching -DOID:5949 angiokeratoma circumscriptum oboInOwl:hasDbXref UMLS_CUI:C0263638 semapv:UnspecifiedMatching +DOID:5949 angiokeratoma circumscriptum oboInOwl:hasDbXref UMLS:C0263638 semapv:UnspecifiedMatching DOID:5957 bladder urachal squamous cell carcinoma oboInOwl:hasDbXref NCI:C39845 semapv:UnspecifiedMatching -DOID:5957 bladder urachal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511206 semapv:UnspecifiedMatching +DOID:5957 bladder urachal squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1511206 semapv:UnspecifiedMatching DOID:5958 bladder urachal carcinoma oboInOwl:hasDbXref MESH:C536475 semapv:UnspecifiedMatching DOID:5958 bladder urachal carcinoma oboInOwl:hasDbXref NCI:C39842 semapv:UnspecifiedMatching -DOID:5958 bladder urachal carcinoma oboInOwl:hasDbXref UMLS_CUI:C2931202 semapv:UnspecifiedMatching +DOID:5958 bladder urachal carcinoma oboInOwl:hasDbXref UMLS:C2931202 semapv:UnspecifiedMatching DOID:5973 kidney pelvis papillary carcinoma oboInOwl:hasDbXref NCI:C6148 semapv:UnspecifiedMatching -DOID:5973 kidney pelvis papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1377909 semapv:UnspecifiedMatching +DOID:5973 kidney pelvis papillary carcinoma oboInOwl:hasDbXref UMLS:C1377909 semapv:UnspecifiedMatching DOID:5974 renal pelvis transitional cell carcinoma oboInOwl:hasDbXref NCI:C7355 semapv:UnspecifiedMatching DOID:5975 renal pelvis papillary tumor oboInOwl:hasDbXref NCI:C8603 semapv:UnspecifiedMatching -DOID:5975 renal pelvis papillary tumor oboInOwl:hasDbXref UMLS_CUI:C0853688 semapv:UnspecifiedMatching +DOID:5975 renal pelvis papillary tumor oboInOwl:hasDbXref UMLS:C0853688 semapv:UnspecifiedMatching DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref ICD10CM:I65.9 semapv:UnspecifiedMatching DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref ICD9CM:433.9 semapv:UnspecifiedMatching -DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref UMLS_CUI:C0155727 semapv:UnspecifiedMatching +DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref UMLS:C0155727 semapv:UnspecifiedMatching DOID:5977 renal pelvis benign neoplasm oboInOwl:hasDbXref NCI:C8404 semapv:UnspecifiedMatching -DOID:5977 renal pelvis benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346260 semapv:UnspecifiedMatching +DOID:5977 renal pelvis benign neoplasm oboInOwl:hasDbXref UMLS:C0346260 semapv:UnspecifiedMatching DOID:5982 kidney fibrosarcoma oboInOwl:hasDbXref NCI:C7726 semapv:UnspecifiedMatching -DOID:5982 kidney fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0238208 semapv:UnspecifiedMatching +DOID:5982 kidney fibrosarcoma oboInOwl:hasDbXref UMLS:C0238208 semapv:UnspecifiedMatching DOID:5983 kidney osteogenic sarcoma oboInOwl:hasDbXref NCI:C6181 semapv:UnspecifiedMatching -DOID:5983 kidney osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335747 semapv:UnspecifiedMatching +DOID:5983 kidney osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1335747 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref ICD10CM:F40.2 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref MESH:C562465 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref NCI:C35284 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref OMIM:608251 semapv:UnspecifiedMatching -DOID:599 specific phobia oboInOwl:hasDbXref UMLS_CUI:C0236801 semapv:UnspecifiedMatching +DOID:599 specific phobia oboInOwl:hasDbXref UMLS:C0236801 semapv:UnspecifiedMatching DOID:599 specific phobia skos:exactMatch OMIM:608251 semapv:UnspecifiedMatching DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref NCI:C5307 semapv:UnspecifiedMatching -DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref UMLS_CUI:C1334227 semapv:UnspecifiedMatching +DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref UMLS:C1334227 semapv:UnspecifiedMatching DOID:5997 non-proliferative fibrocystic change of the breast oboInOwl:hasDbXref NCI:C6943 semapv:UnspecifiedMatching -DOID:5997 non-proliferative fibrocystic change of the breast oboInOwl:hasDbXref UMLS_CUI:C1332628 semapv:UnspecifiedMatching +DOID:5997 non-proliferative fibrocystic change of the breast oboInOwl:hasDbXref UMLS:C1332628 semapv:UnspecifiedMatching DOID:5998 microglandular adenosis oboInOwl:hasDbXref MESH:D005348 semapv:UnspecifiedMatching DOID:5998 microglandular adenosis oboInOwl:hasDbXref NCI:C3484 semapv:UnspecifiedMatching -DOID:5998 microglandular adenosis oboInOwl:hasDbXref UMLS_CUI:C0085750 semapv:UnspecifiedMatching +DOID:5998 microglandular adenosis oboInOwl:hasDbXref UMLS:C0085750 semapv:UnspecifiedMatching DOID:5999 apocrine adenosis of breast oboInOwl:hasDbXref NCI:C5198 semapv:UnspecifiedMatching -DOID:5999 apocrine adenosis of breast oboInOwl:hasDbXref UMLS_CUI:C1332314 semapv:UnspecifiedMatching +DOID:5999 apocrine adenosis of breast oboInOwl:hasDbXref UMLS:C1332314 semapv:UnspecifiedMatching DOID:600 animal phobia oboInOwl:hasDbXref MESH:C000719220 semapv:UnspecifiedMatching DOID:600 animal phobia oboInOwl:hasDbXref NCI:C35273 semapv:UnspecifiedMatching -DOID:600 animal phobia oboInOwl:hasDbXref UMLS_CUI:C0233711 semapv:UnspecifiedMatching +DOID:600 animal phobia oboInOwl:hasDbXref UMLS:C0233711 semapv:UnspecifiedMatching DOID:6000 congestive heart failure oboInOwl:hasDbXref ICD10CM:I50 semapv:UnspecifiedMatching DOID:6000 congestive heart failure oboInOwl:hasDbXref ICD10CM:I50.9 semapv:UnspecifiedMatching DOID:6000 congestive heart failure oboInOwl:hasDbXref ICD9CM:428 semapv:UnspecifiedMatching @@ -32626,140 +32939,140 @@ DOID:6000 congestive heart failure oboInOwl:hasDbXref ICD9CM:428.0 semapv:Unspec DOID:6000 congestive heart failure oboInOwl:hasDbXref MESH:D006333 semapv:UnspecifiedMatching DOID:6000 congestive heart failure oboInOwl:hasDbXref NCI:C3080 semapv:UnspecifiedMatching DOID:6000 congestive heart failure oboInOwl:hasDbXref NCI:C50577 semapv:UnspecifiedMatching -DOID:6000 congestive heart failure oboInOwl:hasDbXref UMLS_CUI:C0018801 semapv:UnspecifiedMatching -DOID:6000 congestive heart failure oboInOwl:hasDbXref UMLS_CUI:C0018802 semapv:UnspecifiedMatching +DOID:6000 congestive heart failure oboInOwl:hasDbXref UMLS:C0018801 semapv:UnspecifiedMatching +DOID:6000 congestive heart failure oboInOwl:hasDbXref UMLS:C0018802 semapv:UnspecifiedMatching DOID:6001 breast fibrosarcoma oboInOwl:hasDbXref NCI:C5185 semapv:UnspecifiedMatching -DOID:6001 breast fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332630 semapv:UnspecifiedMatching +DOID:6001 breast fibrosarcoma oboInOwl:hasDbXref UMLS:C1332630 semapv:UnspecifiedMatching DOID:6003 aleukemic leukemia cutis oboInOwl:hasDbXref NCI:C4983 semapv:UnspecifiedMatching -DOID:6003 aleukemic leukemia cutis oboInOwl:hasDbXref UMLS_CUI:C0887846 semapv:UnspecifiedMatching +DOID:6003 aleukemic leukemia cutis oboInOwl:hasDbXref UMLS:C0887846 semapv:UnspecifiedMatching DOID:6004 aleukemic leukemia oboInOwl:hasDbXref NCI:C4982 semapv:UnspecifiedMatching -DOID:6004 aleukemic leukemia oboInOwl:hasDbXref UMLS_CUI:C0877858 semapv:UnspecifiedMatching +DOID:6004 aleukemic leukemia oboInOwl:hasDbXref UMLS:C0877858 semapv:UnspecifiedMatching DOID:6015 adult central nervous system teratoma oboInOwl:hasDbXref NCI:C5794 semapv:UnspecifiedMatching -DOID:6015 adult central nervous system teratoma oboInOwl:hasDbXref UMLS_CUI:C1370506 semapv:UnspecifiedMatching +DOID:6015 adult central nervous system teratoma oboInOwl:hasDbXref UMLS:C1370506 semapv:UnspecifiedMatching DOID:6016 adult central nervous system mature teratoma oboInOwl:hasDbXref NCI:C27400 semapv:UnspecifiedMatching -DOID:6016 adult central nervous system mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332194 semapv:UnspecifiedMatching +DOID:6016 adult central nervous system mature teratoma oboInOwl:hasDbXref UMLS:C1332194 semapv:UnspecifiedMatching DOID:6017 central nervous system mature teratoma oboInOwl:hasDbXref NCI:C7013 semapv:UnspecifiedMatching -DOID:6017 central nervous system mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332886 semapv:UnspecifiedMatching +DOID:6017 central nervous system mature teratoma oboInOwl:hasDbXref UMLS:C1332886 semapv:UnspecifiedMatching DOID:6018 adult central nervous system immature teratoma oboInOwl:hasDbXref NCI:C27401 semapv:UnspecifiedMatching -DOID:6018 adult central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332193 semapv:UnspecifiedMatching +DOID:6018 adult central nervous system immature teratoma oboInOwl:hasDbXref UMLS:C1332193 semapv:UnspecifiedMatching DOID:6019 central nervous system immature teratoma oboInOwl:hasDbXref NCI:C7014 semapv:UnspecifiedMatching -DOID:6019 central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332883 semapv:UnspecifiedMatching +DOID:6019 central nervous system immature teratoma oboInOwl:hasDbXref UMLS:C1332883 semapv:UnspecifiedMatching DOID:602 cancerophobia oboInOwl:hasDbXref NCI:C35492 semapv:UnspecifiedMatching -DOID:602 cancerophobia oboInOwl:hasDbXref UMLS_CUI:C0233705 semapv:UnspecifiedMatching +DOID:602 cancerophobia oboInOwl:hasDbXref UMLS:C0233705 semapv:UnspecifiedMatching DOID:6024 selective IgE deficiency disease oboInOwl:hasDbXref NCI:C27143 semapv:UnspecifiedMatching -DOID:6024 selective IgE deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0398694 semapv:UnspecifiedMatching +DOID:6024 selective IgE deficiency disease oboInOwl:hasDbXref UMLS:C0398694 semapv:UnspecifiedMatching DOID:6025 selective immunoglobulin deficiency disease oboInOwl:hasDbXref NCI:C27870 semapv:UnspecifiedMatching -DOID:6025 selective immunoglobulin deficiency disease oboInOwl:hasDbXref UMLS_CUI:C1335942 semapv:UnspecifiedMatching +DOID:6025 selective immunoglobulin deficiency disease oboInOwl:hasDbXref UMLS:C1335942 semapv:UnspecifiedMatching DOID:603 AIDS phobia oboInOwl:hasDbXref NCI:C35614 semapv:UnspecifiedMatching -DOID:603 AIDS phobia oboInOwl:hasDbXref UMLS_CUI:C0853870 semapv:UnspecifiedMatching +DOID:603 AIDS phobia oboInOwl:hasDbXref UMLS:C0853870 semapv:UnspecifiedMatching DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref NCI:C39947 semapv:UnspecifiedMatching DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref NCI:C4207 semapv:UnspecifiedMatching -DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334403 semapv:UnspecifiedMatching -DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C1515285 semapv:UnspecifiedMatching +DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS:C0334403 semapv:UnspecifiedMatching +DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS:C1515285 semapv:UnspecifiedMatching DOID:6033 heart fibrosarcoma oboInOwl:hasDbXref NCI:C5361 semapv:UnspecifiedMatching -DOID:6033 heart fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332844 semapv:UnspecifiedMatching +DOID:6033 heart fibrosarcoma oboInOwl:hasDbXref UMLS:C1332844 semapv:UnspecifiedMatching DOID:6034 heart malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C5365 semapv:UnspecifiedMatching -DOID:6034 heart malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1334567 semapv:UnspecifiedMatching +DOID:6034 heart malignant hemangiopericytoma oboInOwl:hasDbXref UMLS:C1334567 semapv:UnspecifiedMatching DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref NCI:C7986 semapv:UnspecifiedMatching -DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref UMLS_CUI:C0279687 semapv:UnspecifiedMatching +DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref UMLS:C0279687 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref MESH:C536494 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref NCI:C7712 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:155720 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:606660 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:606661 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref ORDO:39044 semapv:UnspecifiedMatching -DOID:6039 uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0220633 semapv:UnspecifiedMatching +DOID:6039 uveal melanoma oboInOwl:hasDbXref UMLS:C0220633 semapv:UnspecifiedMatching DOID:6041 choroid spindle cell melanoma oboInOwl:hasDbXref NCI:C6099 semapv:UnspecifiedMatching -DOID:6041 choroid spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333027 semapv:UnspecifiedMatching +DOID:6041 choroid spindle cell melanoma oboInOwl:hasDbXref UMLS:C1333027 semapv:UnspecifiedMatching DOID:6043 ciliary body spindle cell melanoma oboInOwl:hasDbXref NCI:C6117 semapv:UnspecifiedMatching -DOID:6043 ciliary body spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333052 semapv:UnspecifiedMatching +DOID:6043 ciliary body spindle cell melanoma oboInOwl:hasDbXref UMLS:C1333052 semapv:UnspecifiedMatching DOID:6048 telangiectatic glomangioma oboInOwl:hasDbXref NCI:C5345 semapv:UnspecifiedMatching -DOID:6048 telangiectatic glomangioma oboInOwl:hasDbXref UMLS_CUI:C1336699 semapv:UnspecifiedMatching +DOID:6048 telangiectatic glomangioma oboInOwl:hasDbXref UMLS:C1336699 semapv:UnspecifiedMatching DOID:605 flying phobia oboInOwl:hasDbXref ICD10CM:F40.243 semapv:UnspecifiedMatching DOID:605 flying phobia oboInOwl:hasDbXref MESH:C000719189 semapv:UnspecifiedMatching DOID:605 flying phobia oboInOwl:hasDbXref NCI:C35413 semapv:UnspecifiedMatching -DOID:605 flying phobia oboInOwl:hasDbXref UMLS_CUI:C0344318 semapv:UnspecifiedMatching +DOID:605 flying phobia oboInOwl:hasDbXref UMLS:C0344318 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref ICD10CM:K22.9 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref ICD9CM:530.9 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref MESH:D004935 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref NCI:C3027 semapv:UnspecifiedMatching -DOID:6050 esophageal disease oboInOwl:hasDbXref UMLS_CUI:C0014852 semapv:UnspecifiedMatching +DOID:6050 esophageal disease oboInOwl:hasDbXref UMLS:C0014852 semapv:UnspecifiedMatching DOID:6052 central nervous system childhood germ cell tumor oboInOwl:hasDbXref NCI:C6205 semapv:UnspecifiedMatching -DOID:6052 central nervous system childhood germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0278754 semapv:UnspecifiedMatching +DOID:6052 central nervous system childhood germ cell tumor oboInOwl:hasDbXref UMLS:C0278754 semapv:UnspecifiedMatching DOID:6053 childhood germ cell cancer oboInOwl:hasDbXref NCI:C7928 semapv:UnspecifiedMatching -DOID:6053 childhood germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0279014 semapv:UnspecifiedMatching +DOID:6053 childhood germ cell cancer oboInOwl:hasDbXref UMLS:C0279014 semapv:UnspecifiedMatching DOID:6054 frontal sinus Schneiderian papilloma oboInOwl:hasDbXref NCI:C6837 semapv:UnspecifiedMatching -DOID:6054 frontal sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1333645 semapv:UnspecifiedMatching +DOID:6054 frontal sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS:C1333645 semapv:UnspecifiedMatching DOID:6059 nasal vestibule papilloma oboInOwl:hasDbXref NCI:C4369 semapv:UnspecifiedMatching -DOID:6059 nasal vestibule papilloma oboInOwl:hasDbXref UMLS_CUI:C0339826 semapv:UnspecifiedMatching +DOID:6059 nasal vestibule papilloma oboInOwl:hasDbXref UMLS:C0339826 semapv:UnspecifiedMatching DOID:606 Brown-Sequard syndrome oboInOwl:hasDbXref GARD:5964 semapv:UnspecifiedMatching DOID:606 Brown-Sequard syndrome oboInOwl:hasDbXref ICD10CM:G83.81 semapv:UnspecifiedMatching DOID:606 Brown-Sequard syndrome oboInOwl:hasDbXref MESH:D018437 semapv:UnspecifiedMatching DOID:606 Brown-Sequard syndrome oboInOwl:hasDbXref NCI:C84601 semapv:UnspecifiedMatching -DOID:606 Brown-Sequard syndrome oboInOwl:hasDbXref UMLS_CUI:C0242644 semapv:UnspecifiedMatching +DOID:606 Brown-Sequard syndrome oboInOwl:hasDbXref UMLS:C0242644 semapv:UnspecifiedMatching DOID:6065 urinary tract non-invasive transitional cell neoplasm oboInOwl:hasDbXref NCI:C39854 semapv:UnspecifiedMatching -DOID:6065 urinary tract non-invasive transitional cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518361 semapv:UnspecifiedMatching +DOID:6065 urinary tract non-invasive transitional cell neoplasm oboInOwl:hasDbXref UMLS:C1518361 semapv:UnspecifiedMatching DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref NCI:C40033 semapv:UnspecifiedMatching DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref NCI:C5242 semapv:UnspecifiedMatching -DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335168 semapv:UnspecifiedMatching -DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518233 semapv:UnspecifiedMatching +DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref UMLS:C1335168 semapv:UnspecifiedMatching +DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref UMLS:C1518233 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref GARD:7327 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref ICD10CM:G82.2 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref ICD9CM:344.1 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref MESH:D010264 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref NCI:C50687 semapv:UnspecifiedMatching -DOID:607 paraplegia oboInOwl:hasDbXref UMLS_CUI:C0030486 semapv:UnspecifiedMatching +DOID:607 paraplegia oboInOwl:hasDbXref UMLS:C0030486 semapv:UnspecifiedMatching DOID:6082 childhood testicular germ cell tumor oboInOwl:hasDbXref NCI:C6552 semapv:UnspecifiedMatching -DOID:6082 childhood testicular germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0796663 semapv:UnspecifiedMatching +DOID:6082 childhood testicular germ cell tumor oboInOwl:hasDbXref UMLS:C0796663 semapv:UnspecifiedMatching DOID:6083 childhood ovarian endodermal sinus tumor oboInOwl:hasDbXref NCI:C6551 semapv:UnspecifiedMatching -DOID:6083 childhood ovarian endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1332993 semapv:UnspecifiedMatching +DOID:6083 childhood ovarian endodermal sinus tumor oboInOwl:hasDbXref UMLS:C1332993 semapv:UnspecifiedMatching DOID:6084 childhood ovarian germ cell tumor oboInOwl:hasDbXref NCI:C8588 semapv:UnspecifiedMatching -DOID:6084 childhood ovarian germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0796664 semapv:UnspecifiedMatching +DOID:6084 childhood ovarian germ cell tumor oboInOwl:hasDbXref UMLS:C0796664 semapv:UnspecifiedMatching DOID:6085 meningeal melanoma oboInOwl:hasDbXref ICDO:8720/3 semapv:UnspecifiedMatching DOID:6085 meningeal melanoma oboInOwl:hasDbXref NCI:C5317 semapv:UnspecifiedMatching -DOID:6085 meningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1334386 semapv:UnspecifiedMatching +DOID:6085 meningeal melanoma oboInOwl:hasDbXref UMLS:C1334386 semapv:UnspecifiedMatching DOID:6086 malignant leptomeningeal neoplasm oboInOwl:hasDbXref NCI:C8506 semapv:UnspecifiedMatching -DOID:6086 malignant leptomeningeal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334596 semapv:UnspecifiedMatching +DOID:6086 malignant leptomeningeal neoplasm oboInOwl:hasDbXref UMLS:C1334596 semapv:UnspecifiedMatching DOID:6088 acute stress disorder oboInOwl:hasDbXref ICD9CM:308.3 semapv:UnspecifiedMatching -DOID:6088 acute stress disorder oboInOwl:hasDbXref UMLS_CUI:C0029488 semapv:UnspecifiedMatching +DOID:6088 acute stress disorder oboInOwl:hasDbXref UMLS:C0029488 semapv:UnspecifiedMatching DOID:6089 childhood leptomeningeal melanoma oboInOwl:hasDbXref NCI:C5318 semapv:UnspecifiedMatching -DOID:6089 childhood leptomeningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1332976 semapv:UnspecifiedMatching +DOID:6089 childhood leptomeningeal melanoma oboInOwl:hasDbXref UMLS:C1332976 semapv:UnspecifiedMatching DOID:6090 adult leptomeningeal melanoma oboInOwl:hasDbXref NCI:C5319 semapv:UnspecifiedMatching -DOID:6090 adult leptomeningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1332204 semapv:UnspecifiedMatching +DOID:6090 adult leptomeningeal melanoma oboInOwl:hasDbXref UMLS:C1332204 semapv:UnspecifiedMatching DOID:6098 thalamic neoplasm oboInOwl:hasDbXref NCI:C4576 semapv:UnspecifiedMatching DOID:6098 thalamic neoplasm oboInOwl:hasDbXref NCI:C6221 semapv:UnspecifiedMatching -DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346902 semapv:UnspecifiedMatching -DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336733 semapv:UnspecifiedMatching +DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS:C0346902 semapv:UnspecifiedMatching +DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS:C1336733 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD10CM:I05 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD10CM:I05.1 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:394 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:394.1 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:424.0 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref NCI:C78446 semapv:UnspecifiedMatching -DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS_CUI:C0026265 semapv:UnspecifiedMatching -DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS_CUI:C0155563 semapv:UnspecifiedMatching -DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS_CUI:C0264765 semapv:UnspecifiedMatching +DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS:C0026265 semapv:UnspecifiedMatching +DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS:C0155563 semapv:UnspecifiedMatching +DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS:C0264765 semapv:UnspecifiedMatching DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40205 semapv:UnspecifiedMatching -DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516424 semapv:UnspecifiedMatching +DOID:6101 signet ring cell variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1516424 semapv:UnspecifiedMatching DOID:6102 herpetic gastritis oboInOwl:hasDbXref NCI:C27341 semapv:UnspecifiedMatching -DOID:6102 herpetic gastritis oboInOwl:hasDbXref UMLS_CUI:C1333996 semapv:UnspecifiedMatching +DOID:6102 herpetic gastritis oboInOwl:hasDbXref UMLS:C1333996 semapv:UnspecifiedMatching DOID:6103 thoracic spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5297 semapv:UnspecifiedMatching -DOID:6103 thoracic spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1336738 semapv:UnspecifiedMatching +DOID:6103 thoracic spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS:C1336738 semapv:UnspecifiedMatching DOID:6110 jugular foramen meningioma oboInOwl:hasDbXref NCI:C5293 semapv:UnspecifiedMatching -DOID:6110 jugular foramen meningioma oboInOwl:hasDbXref UMLS_CUI:C1334298 semapv:UnspecifiedMatching +DOID:6110 jugular foramen meningioma oboInOwl:hasDbXref UMLS:C1334298 semapv:UnspecifiedMatching DOID:6112 cerebral meningioma oboInOwl:hasDbXref NCI:C4807 semapv:UnspecifiedMatching -DOID:6112 cerebral meningioma oboInOwl:hasDbXref UMLS_CUI:C0542564 semapv:UnspecifiedMatching +DOID:6112 cerebral meningioma oboInOwl:hasDbXref UMLS:C0542564 semapv:UnspecifiedMatching DOID:6113 intracerebral cystic meningioma oboInOwl:hasDbXref NCI:C5269 semapv:UnspecifiedMatching -DOID:6113 intracerebral cystic meningioma oboInOwl:hasDbXref UMLS_CUI:C1334236 semapv:UnspecifiedMatching +DOID:6113 intracerebral cystic meningioma oboInOwl:hasDbXref UMLS:C1334236 semapv:UnspecifiedMatching DOID:6114 cerebral convexity meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:6114 cerebral convexity meningioma oboInOwl:hasDbXref NCI:C4959 semapv:UnspecifiedMatching -DOID:6114 cerebral convexity meningioma oboInOwl:hasDbXref UMLS_CUI:C0751303 semapv:UnspecifiedMatching +DOID:6114 cerebral convexity meningioma oboInOwl:hasDbXref UMLS:C0751303 semapv:UnspecifiedMatching DOID:6115 lateral ventricle meningioma oboInOwl:hasDbXref NCI:C5302 semapv:UnspecifiedMatching -DOID:6115 lateral ventricle meningioma oboInOwl:hasDbXref UMLS_CUI:C1334380 semapv:UnspecifiedMatching +DOID:6115 lateral ventricle meningioma oboInOwl:hasDbXref UMLS:C1334380 semapv:UnspecifiedMatching DOID:6118 renal pelvis inverted papilloma oboInOwl:hasDbXref NCI:C6187 semapv:UnspecifiedMatching -DOID:6118 renal pelvis inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1335751 semapv:UnspecifiedMatching +DOID:6118 renal pelvis inverted papilloma oboInOwl:hasDbXref UMLS:C1335751 semapv:UnspecifiedMatching DOID:6119 renal pelvis urothelial papilloma oboInOwl:hasDbXref NCI:C4528 semapv:UnspecifiedMatching -DOID:6119 renal pelvis urothelial papilloma oboInOwl:hasDbXref UMLS_CUI:C1514844 semapv:UnspecifiedMatching +DOID:6119 renal pelvis urothelial papilloma oboInOwl:hasDbXref UMLS:C1514844 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref ICD10CM:D84.9 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref ICD9CM:279.3 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref KEGG:05340 semapv:UnspecifiedMatching @@ -32767,17 +33080,17 @@ DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref MESH:D007153 semapv DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref NCI:C39725 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref OMIM:242850 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref OMIMPS:300755 semapv:UnspecifiedMatching -DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref UMLS_CUI:C0021051 semapv:UnspecifiedMatching +DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref UMLS:C0021051 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma oboInOwl:hasDbXref MESH:C563020 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma oboInOwl:hasDbXref NCI:C7489 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma oboInOwl:hasDbXref OMIM:105580 semapv:UnspecifiedMatching -DOID:6126 anal canal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0563211 semapv:UnspecifiedMatching +DOID:6126 anal canal carcinoma oboInOwl:hasDbXref UMLS:C0563211 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma skos:exactMatch OMIM:105580 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref GARD:6514 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref ICDO:9381/3 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref MESH:D018302 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref NCI:C4318 semapv:UnspecifiedMatching -DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref UMLS_CUI:C0334576 semapv:UnspecifiedMatching +DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref UMLS:C0334576 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD10CM:J20 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD10CM:J40 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD10CM:J42 semapv:UnspecifiedMatching @@ -32789,58 +33102,58 @@ DOID:6132 bronchitis oboInOwl:hasDbXref MESH:D029481 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C26722 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C26932 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C2911 semapv:UnspecifiedMatching -DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0006277 semapv:UnspecifiedMatching -DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0008677 semapv:UnspecifiedMatching -DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0149514 semapv:UnspecifiedMatching +DOID:6132 bronchitis oboInOwl:hasDbXref UMLS:C0006277 semapv:UnspecifiedMatching +DOID:6132 bronchitis oboInOwl:hasDbXref UMLS:C0008677 semapv:UnspecifiedMatching +DOID:6132 bronchitis oboInOwl:hasDbXref UMLS:C0149514 semapv:UnspecifiedMatching DOID:6139 uterine corpus epithelioid leiomyosarcoma oboInOwl:hasDbXref NCI:C40174 semapv:UnspecifiedMatching -DOID:6139 uterine corpus epithelioid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519851 semapv:UnspecifiedMatching +DOID:6139 uterine corpus epithelioid leiomyosarcoma oboInOwl:hasDbXref UMLS:C1519851 semapv:UnspecifiedMatching DOID:614 lymphopenia oboInOwl:hasDbXref ICD10CM:D72.810 semapv:UnspecifiedMatching DOID:614 lymphopenia oboInOwl:hasDbXref ICD9CM:288.51 semapv:UnspecifiedMatching DOID:614 lymphopenia oboInOwl:hasDbXref MESH:D008231 semapv:UnspecifiedMatching -DOID:614 lymphopenia oboInOwl:hasDbXref UMLS_CUI:C0024312 semapv:UnspecifiedMatching +DOID:614 lymphopenia oboInOwl:hasDbXref UMLS:C0024312 semapv:UnspecifiedMatching DOID:6148 nasal cavity carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.3 semapv:UnspecifiedMatching -DOID:6148 nasal cavity carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0347095 semapv:UnspecifiedMatching +DOID:6148 nasal cavity carcinoma in situ oboInOwl:hasDbXref UMLS:C0347095 semapv:UnspecifiedMatching DOID:615 leukopenia oboInOwl:hasDbXref ICD10CM:D72.819 semapv:UnspecifiedMatching DOID:615 leukopenia oboInOwl:hasDbXref ICD9CM:288.50 semapv:UnspecifiedMatching DOID:615 leukopenia oboInOwl:hasDbXref MESH:D007970 semapv:UnspecifiedMatching -DOID:615 leukopenia oboInOwl:hasDbXref UMLS_CUI:C0023530 semapv:UnspecifiedMatching +DOID:615 leukopenia oboInOwl:hasDbXref UMLS:C0023530 semapv:UnspecifiedMatching DOID:615 leukopenia skos:exactMatch MESH:D007970 semapv:UnspecifiedMatching DOID:6160 childhood choriocarcinoma of the testis oboInOwl:hasDbXref NCI:C6544 semapv:UnspecifiedMatching -DOID:6160 childhood choriocarcinoma of the testis oboInOwl:hasDbXref UMLS_CUI:C1333006 semapv:UnspecifiedMatching +DOID:6160 childhood choriocarcinoma of the testis oboInOwl:hasDbXref UMLS:C1333006 semapv:UnspecifiedMatching DOID:6161 childhood testicular mixed germ cell tumor oboInOwl:hasDbXref NCI:C6542 semapv:UnspecifiedMatching -DOID:6161 childhood testicular mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1333009 semapv:UnspecifiedMatching +DOID:6161 childhood testicular mixed germ cell tumor oboInOwl:hasDbXref UMLS:C1333009 semapv:UnspecifiedMatching DOID:6162 childhood embryonal testis carcinoma oboInOwl:hasDbXref NCI:C6545 semapv:UnspecifiedMatching -DOID:6162 childhood embryonal testis carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333007 semapv:UnspecifiedMatching +DOID:6162 childhood embryonal testis carcinoma oboInOwl:hasDbXref UMLS:C1333007 semapv:UnspecifiedMatching DOID:6163 familial renal papillary carcinoma oboInOwl:hasDbXref NCI:C9222 semapv:UnspecifiedMatching -DOID:6163 familial renal papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0879257 semapv:UnspecifiedMatching +DOID:6163 familial renal papillary carcinoma oboInOwl:hasDbXref UMLS:C0879257 semapv:UnspecifiedMatching DOID:6166 prostatic urethra urothelial carcinoma oboInOwl:hasDbXref NCI:C39900 semapv:UnspecifiedMatching -DOID:6166 prostatic urethra urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1514522 semapv:UnspecifiedMatching +DOID:6166 prostatic urethra urothelial carcinoma oboInOwl:hasDbXref UMLS:C1514522 semapv:UnspecifiedMatching DOID:6167 prostatic urethral cancer oboInOwl:hasDbXref NCI:C39870 semapv:UnspecifiedMatching -DOID:6167 prostatic urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1514523 semapv:UnspecifiedMatching +DOID:6167 prostatic urethral cancer oboInOwl:hasDbXref UMLS:C1514523 semapv:UnspecifiedMatching DOID:6170 ovarian carcinosarcoma oboInOwl:hasDbXref GARD:7296 semapv:UnspecifiedMatching DOID:6170 ovarian carcinosarcoma oboInOwl:hasDbXref NCI:C9192 semapv:UnspecifiedMatching -DOID:6170 ovarian carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0392998 semapv:UnspecifiedMatching +DOID:6170 ovarian carcinosarcoma oboInOwl:hasDbXref UMLS:C0392998 semapv:UnspecifiedMatching DOID:6171 uterine carcinosarcoma oboInOwl:hasDbXref GARD:12335 semapv:UnspecifiedMatching DOID:6171 uterine carcinosarcoma oboInOwl:hasDbXref NCI:C42700 semapv:UnspecifiedMatching -DOID:6171 uterine carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0280630 semapv:UnspecifiedMatching +DOID:6171 uterine carcinosarcoma oboInOwl:hasDbXref UMLS:C0280630 semapv:UnspecifiedMatching DOID:6175 mediastinal neurilemmoma oboInOwl:hasDbXref NCI:C6643 semapv:UnspecifiedMatching -DOID:6175 mediastinal neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1334679 semapv:UnspecifiedMatching +DOID:6175 mediastinal neurilemmoma oboInOwl:hasDbXref UMLS:C1334679 semapv:UnspecifiedMatching DOID:6179 ovarian small cell carcinoma oboInOwl:hasDbXref GARD:10411 semapv:UnspecifiedMatching DOID:6179 ovarian small cell carcinoma oboInOwl:hasDbXref NCI:C27390 semapv:UnspecifiedMatching DOID:6190 rectum Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5550 semapv:UnspecifiedMatching -DOID:6190 rectum Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335681 semapv:UnspecifiedMatching +DOID:6190 rectum Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1335681 semapv:UnspecifiedMatching DOID:6192 malignant inflammatory fibrous histiocytoma oboInOwl:hasDbXref NCI:C6497 semapv:UnspecifiedMatching -DOID:6192 malignant inflammatory fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1334180 semapv:UnspecifiedMatching +DOID:6192 malignant inflammatory fibrous histiocytoma oboInOwl:hasDbXref UMLS:C1334180 semapv:UnspecifiedMatching DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref GARD:10181 semapv:UnspecifiedMatching DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref ICDO:8804/3 semapv:UnspecifiedMatching DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref MESH:D012509 semapv:UnspecifiedMatching DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref NCI:C3714 semapv:UnspecifiedMatching -DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0205944 semapv:UnspecifiedMatching +DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0205944 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref ICD10CM:H10 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref ICD9CM:372.30 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref MESH:D003231 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref NCI:C34504 semapv:UnspecifiedMatching -DOID:6195 conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009763 semapv:UnspecifiedMatching +DOID:6195 conjunctivitis oboInOwl:hasDbXref UMLS:C0009763 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref GARD:5693 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref ICD10CM:M02.10 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref ICD10CM:M02.3 semapv:UnspecifiedMatching @@ -32848,246 +33161,246 @@ DOID:6196 reactive arthritis oboInOwl:hasDbXref ICD9CM:099.3 semapv:UnspecifiedM DOID:6196 reactive arthritis oboInOwl:hasDbXref ICD9CM:711.30 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref MESH:D016918 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref NCI:C34975 semapv:UnspecifiedMatching -DOID:6196 reactive arthritis oboInOwl:hasDbXref UMLS_CUI:C0035012 semapv:UnspecifiedMatching -DOID:6196 reactive arthritis oboInOwl:hasDbXref UMLS_CUI:C0152085 semapv:UnspecifiedMatching +DOID:6196 reactive arthritis oboInOwl:hasDbXref UMLS:C0035012 semapv:UnspecifiedMatching +DOID:6196 reactive arthritis oboInOwl:hasDbXref UMLS:C0152085 semapv:UnspecifiedMatching DOID:6197 conventional malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C9425 semapv:UnspecifiedMatching -DOID:6197 conventional malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1333158 semapv:UnspecifiedMatching +DOID:6197 conventional malignant hemangiopericytoma oboInOwl:hasDbXref UMLS:C1333158 semapv:UnspecifiedMatching DOID:6198 corneal intraepithelial neoplasm oboInOwl:hasDbXref NCI:C6093 semapv:UnspecifiedMatching -DOID:6198 corneal intraepithelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333159 semapv:UnspecifiedMatching +DOID:6198 corneal intraepithelial neoplasm oboInOwl:hasDbXref UMLS:C1333159 semapv:UnspecifiedMatching DOID:6199 cornea cancer oboInOwl:hasDbXref ICD10CM:C69.1 semapv:UnspecifiedMatching DOID:6199 cornea cancer oboInOwl:hasDbXref ICD9CM:190.4 semapv:UnspecifiedMatching DOID:6199 cornea cancer oboInOwl:hasDbXref NCI:C3565 semapv:UnspecifiedMatching DOID:6199 cornea cancer oboInOwl:hasDbXref NCI:C4361 semapv:UnspecifiedMatching -DOID:6199 cornea cancer oboInOwl:hasDbXref UMLS_CUI:C0153629 semapv:UnspecifiedMatching -DOID:6199 cornea cancer oboInOwl:hasDbXref UMLS_CUI:C0339304 semapv:UnspecifiedMatching +DOID:6199 cornea cancer oboInOwl:hasDbXref UMLS:C0153629 semapv:UnspecifiedMatching +DOID:6199 cornea cancer oboInOwl:hasDbXref UMLS:C0339304 semapv:UnspecifiedMatching DOID:62 aortic valve disease oboInOwl:hasDbXref ICD9CM:424.1 semapv:UnspecifiedMatching DOID:62 aortic valve disease oboInOwl:hasDbXref MESH:D000082862 semapv:UnspecifiedMatching DOID:62 aortic valve disease oboInOwl:hasDbXref NCI:C78650 semapv:UnspecifiedMatching -DOID:62 aortic valve disease oboInOwl:hasDbXref UMLS_CUI:C1260873 semapv:UnspecifiedMatching +DOID:62 aortic valve disease oboInOwl:hasDbXref UMLS:C1260873 semapv:UnspecifiedMatching DOID:620 blood protein disease oboInOwl:hasDbXref MESH:D001796 semapv:UnspecifiedMatching -DOID:620 blood protein disease oboInOwl:hasDbXref UMLS_CUI:C0005830 semapv:UnspecifiedMatching +DOID:620 blood protein disease oboInOwl:hasDbXref UMLS:C0005830 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref ICD10CM:C45.2 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C7631 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C7632 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C8703 semapv:UnspecifiedMatching -DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0346110 semapv:UnspecifiedMatching -DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0854883 semapv:UnspecifiedMatching -DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1335381 semapv:UnspecifiedMatching +DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS:C0346110 semapv:UnspecifiedMatching +DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS:C0854883 semapv:UnspecifiedMatching +DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS:C1335381 semapv:UnspecifiedMatching DOID:6203 thyroid hyalinizing trabecular adenoma oboInOwl:hasDbXref NCI:C6846 semapv:UnspecifiedMatching -DOID:6203 thyroid hyalinizing trabecular adenoma oboInOwl:hasDbXref UMLS_CUI:C1336751 semapv:UnspecifiedMatching +DOID:6203 thyroid hyalinizing trabecular adenoma oboInOwl:hasDbXref UMLS:C1336751 semapv:UnspecifiedMatching DOID:6204 follicular adenoma oboInOwl:hasDbXref ICDO:8330/0 semapv:UnspecifiedMatching DOID:6204 follicular adenoma oboInOwl:hasDbXref MESH:D000236 semapv:UnspecifiedMatching -DOID:6204 follicular adenoma oboInOwl:hasDbXref UMLS_CUI:C0205647 semapv:UnspecifiedMatching +DOID:6204 follicular adenoma oboInOwl:hasDbXref UMLS:C0205647 semapv:UnspecifiedMatching DOID:6208 mediastinal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6615 semapv:UnspecifiedMatching -DOID:6208 mediastinal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334675 semapv:UnspecifiedMatching +DOID:6208 mediastinal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1334675 semapv:UnspecifiedMatching DOID:6209 malignant mediastinum hemangiopericytoma oboInOwl:hasDbXref NCI:C6608 semapv:UnspecifiedMatching -DOID:6209 malignant mediastinum hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1334598 semapv:UnspecifiedMatching +DOID:6209 malignant mediastinum hemangiopericytoma oboInOwl:hasDbXref UMLS:C1334598 semapv:UnspecifiedMatching DOID:6210 bladder diffuse clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C39849 semapv:UnspecifiedMatching -DOID:6210 bladder diffuse clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511187 semapv:UnspecifiedMatching +DOID:6210 bladder diffuse clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1511187 semapv:UnspecifiedMatching DOID:6211 mixed epithelial tumor of ovary oboInOwl:hasDbXref NCI:C4508 semapv:UnspecifiedMatching -DOID:6211 mixed epithelial tumor of ovary oboInOwl:hasDbXref UMLS_CUI:C0346166 semapv:UnspecifiedMatching +DOID:6211 mixed epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C0346166 semapv:UnspecifiedMatching DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref NCI:C40051 semapv:UnspecifiedMatching DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref NCI:C6257 semapv:UnspecifiedMatching -DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C1335159 semapv:UnspecifiedMatching -DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C1518231 semapv:UnspecifiedMatching +DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref UMLS:C1335159 semapv:UnspecifiedMatching +DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref UMLS:C1518231 semapv:UnspecifiedMatching DOID:6214 ovarian papillary neoplasm oboInOwl:hasDbXref NCI:C8430 semapv:UnspecifiedMatching -DOID:6214 ovarian papillary neoplasm oboInOwl:hasDbXref UMLS_CUI:C0476121 semapv:UnspecifiedMatching +DOID:6214 ovarian papillary neoplasm oboInOwl:hasDbXref UMLS:C0476121 semapv:UnspecifiedMatching DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref NCI:C4127 semapv:UnspecifiedMatching DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref NCI:C9159 semapv:UnspecifiedMatching -DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279635 semapv:UnspecifiedMatching -DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334280 semapv:UnspecifiedMatching +DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS:C0279635 semapv:UnspecifiedMatching +DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS:C0334280 semapv:UnspecifiedMatching DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref NCI:C7035 semapv:UnspecifiedMatching DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 semapv:UnspecifiedMatching -DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS_CUI:C1333764 semapv:UnspecifiedMatching +DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS:C1333764 semapv:UnspecifiedMatching DOID:6225 Cronkhite-Canada syndrome skos:exactMatch OMIM:175500 semapv:UnspecifiedMatching DOID:6227 articular cartilage disease oboInOwl:hasDbXref ICD9CM:718.0 semapv:UnspecifiedMatching -DOID:6227 articular cartilage disease oboInOwl:hasDbXref UMLS_CUI:C0158073 semapv:UnspecifiedMatching +DOID:6227 articular cartilage disease oboInOwl:hasDbXref UMLS:C0158073 semapv:UnspecifiedMatching DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref NCI:C7695 semapv:UnspecifiedMatching -DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1368918 semapv:UnspecifiedMatching +DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref UMLS:C1368918 semapv:UnspecifiedMatching DOID:6229 childhood mature teratoma of the ovary oboInOwl:hasDbXref NCI:C6548 semapv:UnspecifiedMatching -DOID:6229 childhood mature teratoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1332991 semapv:UnspecifiedMatching +DOID:6229 childhood mature teratoma of the ovary oboInOwl:hasDbXref UMLS:C1332991 semapv:UnspecifiedMatching DOID:6230 childhood teratoma of the ovary oboInOwl:hasDbXref NCI:C6554 semapv:UnspecifiedMatching -DOID:6230 childhood teratoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1332992 semapv:UnspecifiedMatching +DOID:6230 childhood teratoma of the ovary oboInOwl:hasDbXref UMLS:C1332992 semapv:UnspecifiedMatching DOID:6231 mature teratoma of the ovary oboInOwl:hasDbXref NCI:C8112 semapv:UnspecifiedMatching -DOID:6231 mature teratoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1334637 semapv:UnspecifiedMatching +DOID:6231 mature teratoma of the ovary oboInOwl:hasDbXref UMLS:C1334637 semapv:UnspecifiedMatching DOID:6232 ovarian biphasic or triphasic teratoma oboInOwl:hasDbXref NCI:C39992 semapv:UnspecifiedMatching -DOID:6232 ovarian biphasic or triphasic teratoma oboInOwl:hasDbXref UMLS_CUI:C1518691 semapv:UnspecifiedMatching +DOID:6232 ovarian biphasic or triphasic teratoma oboInOwl:hasDbXref UMLS:C1518691 semapv:UnspecifiedMatching DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref NCI:C27884 semapv:UnspecifiedMatching DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref NCI:C39831 semapv:UnspecifiedMatching -DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1266010 semapv:UnspecifiedMatching -DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518358 semapv:UnspecifiedMatching +DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS:C1266010 semapv:UnspecifiedMatching +DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS:C1518358 semapv:UnspecifiedMatching DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10CM:D80.7 semapv:UnspecifiedMatching DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref NCI:C27071 semapv:UnspecifiedMatching -DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS_CUI:C0272238 semapv:UnspecifiedMatching +DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS:C0272238 semapv:UnspecifiedMatching DOID:6244 familial renal oncocytoma oboInOwl:hasDbXref NCI:C8960 semapv:UnspecifiedMatching -DOID:6244 familial renal oncocytoma oboInOwl:hasDbXref UMLS_CUI:C0879606 semapv:UnspecifiedMatching +DOID:6244 familial renal oncocytoma oboInOwl:hasDbXref UMLS:C0879606 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref GARD:8477 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref MESH:C537750 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref NCI:C4526 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref OMIM:553000 semapv:UnspecifiedMatching -DOID:6245 renal oncocytoma oboInOwl:hasDbXref UMLS_CUI:C0346255 semapv:UnspecifiedMatching +DOID:6245 renal oncocytoma oboInOwl:hasDbXref UMLS:C0346255 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma skos:exactMatch OMIM:553000 semapv:UnspecifiedMatching DOID:6249 mediastinum seminoma oboInOwl:hasDbXref NCI:C6812 semapv:UnspecifiedMatching -DOID:6249 mediastinum seminoma oboInOwl:hasDbXref UMLS_CUI:C1334680 semapv:UnspecifiedMatching +DOID:6249 mediastinum seminoma oboInOwl:hasDbXref UMLS:C1334680 semapv:UnspecifiedMatching DOID:625 transient hypogammaglobulinemia oboInOwl:hasDbXref NCI:C27319 semapv:UnspecifiedMatching -DOID:625 transient hypogammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0859960 semapv:UnspecifiedMatching +DOID:625 transient hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C0859960 semapv:UnspecifiedMatching DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref MESH:D049912 semapv:UnspecifiedMatching DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref NCI:C7461 semapv:UnspecifiedMatching -DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0346302 semapv:UnspecifiedMatching +DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C0346302 semapv:UnspecifiedMatching DOID:6256 malignant growth hormone secreting neoplasm of pituitary oboInOwl:hasDbXref NCI:C5963 semapv:UnspecifiedMatching -DOID:6256 malignant growth hormone secreting neoplasm of pituitary oboInOwl:hasDbXref UMLS_CUI:C1334587 semapv:UnspecifiedMatching +DOID:6256 malignant growth hormone secreting neoplasm of pituitary oboInOwl:hasDbXref UMLS:C1334587 semapv:UnspecifiedMatching DOID:6257 chromophil adenoma of the kidney oboInOwl:hasDbXref NCI:C3687 semapv:UnspecifiedMatching -DOID:6257 chromophil adenoma of the kidney oboInOwl:hasDbXref UMLS_CUI:C1518879 semapv:UnspecifiedMatching +DOID:6257 chromophil adenoma of the kidney oboInOwl:hasDbXref UMLS:C1518879 semapv:UnspecifiedMatching DOID:6258 type 1 papillary adenoma of the kidney oboInOwl:hasDbXref NCI:C39809 semapv:UnspecifiedMatching -DOID:6258 type 1 papillary adenoma of the kidney oboInOwl:hasDbXref UMLS_CUI:C1519706 semapv:UnspecifiedMatching +DOID:6258 type 1 papillary adenoma of the kidney oboInOwl:hasDbXref UMLS:C1519706 semapv:UnspecifiedMatching DOID:6259 type 2 papillary adenoma of the kidney oboInOwl:hasDbXref NCI:C39810 semapv:UnspecifiedMatching -DOID:6259 type 2 papillary adenoma of the kidney oboInOwl:hasDbXref UMLS_CUI:C1519710 semapv:UnspecifiedMatching +DOID:6259 type 2 papillary adenoma of the kidney oboInOwl:hasDbXref UMLS:C1519710 semapv:UnspecifiedMatching DOID:626 complement deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching DOID:626 complement deficiency oboInOwl:hasDbXref MESH:D000081208 semapv:UnspecifiedMatching DOID:626 complement deficiency oboInOwl:hasDbXref NCI:C4691 semapv:UnspecifiedMatching -DOID:626 complement deficiency oboInOwl:hasDbXref UMLS_CUI:C0272242 semapv:UnspecifiedMatching +DOID:626 complement deficiency oboInOwl:hasDbXref UMLS:C0272242 semapv:UnspecifiedMatching DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref ICDO:9758/3 semapv:UnspecifiedMatching DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054740 semapv:UnspecifiedMatching DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref NCI:C9281 semapv:UnspecifiedMatching -DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260325 semapv:UnspecifiedMatching +DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260325 semapv:UnspecifiedMatching DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref MESH:D058922 semapv:UnspecifiedMatching DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref NCI:C4001 semapv:UnspecifiedMatching -DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0278601 semapv:UnspecifiedMatching +DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref UMLS:C0278601 semapv:UnspecifiedMatching DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref GARD:7628 semapv:UnspecifiedMatching DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref MESH:D016511 semapv:UnspecifiedMatching DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref NCI:C3472 semapv:UnspecifiedMatching -DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref UMLS_CUI:C0085110 semapv:UnspecifiedMatching +DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C0085110 semapv:UnspecifiedMatching DOID:6270 gastric cardia carcinoma oboInOwl:hasDbXref NCI:C6794 semapv:UnspecifiedMatching -DOID:6270 gastric cardia carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333763 semapv:UnspecifiedMatching +DOID:6270 gastric cardia carcinoma oboInOwl:hasDbXref UMLS:C1333763 semapv:UnspecifiedMatching DOID:6271 gastric cardia adenocarcinoma oboInOwl:hasDbXref NCI:C5247 semapv:UnspecifiedMatching -DOID:6271 gastric cardia adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333762 semapv:UnspecifiedMatching +DOID:6271 gastric cardia adenocarcinoma oboInOwl:hasDbXref UMLS:C1333762 semapv:UnspecifiedMatching DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland oboInOwl:hasDbXref NCI:C5965 semapv:UnspecifiedMatching -DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland oboInOwl:hasDbXref UMLS_CUI:C1334627 semapv:UnspecifiedMatching +DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland oboInOwl:hasDbXref UMLS:C1334627 semapv:UnspecifiedMatching DOID:6275 TSH producing pituitary tumor oboInOwl:hasDbXref NCI:C7915 semapv:UnspecifiedMatching -DOID:6275 TSH producing pituitary tumor oboInOwl:hasDbXref UMLS_CUI:C0346303 semapv:UnspecifiedMatching +DOID:6275 TSH producing pituitary tumor oboInOwl:hasDbXref UMLS:C0346303 semapv:UnspecifiedMatching DOID:6276 malignant ACTH producing neoplasm of pituitary gland oboInOwl:hasDbXref NCI:C5964 semapv:UnspecifiedMatching -DOID:6276 malignant ACTH producing neoplasm of pituitary gland oboInOwl:hasDbXref UMLS_CUI:C1334556 semapv:UnspecifiedMatching +DOID:6276 malignant ACTH producing neoplasm of pituitary gland oboInOwl:hasDbXref UMLS:C1334556 semapv:UnspecifiedMatching DOID:6278 ovarian mucinous malignant adenofibroma oboInOwl:hasDbXref NCI:C40034 semapv:UnspecifiedMatching DOID:628 combined T cell and B cell immunodeficiency oboInOwl:hasDbXref ICD10CM:D81 semapv:UnspecifiedMatching DOID:628 combined T cell and B cell immunodeficiency oboInOwl:hasDbXref ICD9CM:279.2 semapv:UnspecifiedMatching DOID:628 combined T cell and B cell immunodeficiency oboInOwl:hasDbXref NCI:C27871 semapv:UnspecifiedMatching DOID:628 combined T cell and B cell immunodeficiency oboInOwl:hasDbXref ORDO:101972 semapv:UnspecifiedMatching -DOID:628 combined T cell and B cell immunodeficiency oboInOwl:hasDbXref UMLS_CUI:C2711630 semapv:UnspecifiedMatching +DOID:628 combined T cell and B cell immunodeficiency oboInOwl:hasDbXref UMLS:C2711630 semapv:UnspecifiedMatching DOID:6284 epicardium lipoma oboInOwl:hasDbXref NCI:C6742 semapv:UnspecifiedMatching -DOID:6284 epicardium lipoma oboInOwl:hasDbXref UMLS_CUI:C1333411 semapv:UnspecifiedMatching +DOID:6284 epicardium lipoma oboInOwl:hasDbXref UMLS:C1333411 semapv:UnspecifiedMatching DOID:6285 heart lipoma oboInOwl:hasDbXref NCI:C6741 semapv:UnspecifiedMatching -DOID:6285 heart lipoma oboInOwl:hasDbXref UMLS_CUI:C1332849 semapv:UnspecifiedMatching +DOID:6285 heart lipoma oboInOwl:hasDbXref UMLS:C1332849 semapv:UnspecifiedMatching DOID:6286 childhood cerebellar astrocytic neoplasm oboInOwl:hasDbXref NCI:C6286 semapv:UnspecifiedMatching -DOID:6286 childhood cerebellar astrocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0278594 semapv:UnspecifiedMatching +DOID:6286 childhood cerebellar astrocytic neoplasm oboInOwl:hasDbXref UMLS:C0278594 semapv:UnspecifiedMatching DOID:6291 cerebral hemisphere lipoma oboInOwl:hasDbXref NCI:C6220 semapv:UnspecifiedMatching -DOID:6291 cerebral hemisphere lipoma oboInOwl:hasDbXref UMLS_CUI:C1332907 semapv:UnspecifiedMatching +DOID:6291 cerebral hemisphere lipoma oboInOwl:hasDbXref UMLS:C1332907 semapv:UnspecifiedMatching DOID:6293 central nervous system lipoma oboInOwl:hasDbXref NCI:C5451 semapv:UnspecifiedMatching -DOID:6293 central nervous system lipoma oboInOwl:hasDbXref UMLS_CUI:C1332885 semapv:UnspecifiedMatching +DOID:6293 central nervous system lipoma oboInOwl:hasDbXref UMLS:C1332885 semapv:UnspecifiedMatching DOID:6294 corpus callosum lipoma oboInOwl:hasDbXref NCI:C5438 semapv:UnspecifiedMatching -DOID:6294 corpus callosum lipoma oboInOwl:hasDbXref UMLS_CUI:C1333160 semapv:UnspecifiedMatching +DOID:6294 corpus callosum lipoma oboInOwl:hasDbXref UMLS:C1333160 semapv:UnspecifiedMatching DOID:6297 viral esophagitis oboInOwl:hasDbXref NCI:C27108 semapv:UnspecifiedMatching -DOID:6297 viral esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341110 semapv:UnspecifiedMatching +DOID:6297 viral esophagitis oboInOwl:hasDbXref UMLS:C0341110 semapv:UnspecifiedMatching DOID:630 genetic disease oboInOwl:hasDbXref MESH:D030342 semapv:UnspecifiedMatching DOID:630 genetic disease oboInOwl:hasDbXref NCI:C3101 semapv:UnspecifiedMatching -DOID:630 genetic disease oboInOwl:hasDbXref UMLS_CUI:C0019247 semapv:UnspecifiedMatching +DOID:630 genetic disease oboInOwl:hasDbXref UMLS:C0019247 semapv:UnspecifiedMatching DOID:6307 ectopic thymus oboInOwl:hasDbXref NCI:C27804 semapv:UnspecifiedMatching -DOID:6307 ectopic thymus oboInOwl:hasDbXref UMLS_CUI:C1333375 semapv:UnspecifiedMatching +DOID:6307 ectopic thymus oboInOwl:hasDbXref UMLS:C1333375 semapv:UnspecifiedMatching DOID:631 fibromyalgia oboInOwl:hasDbXref ICD10CM:M79.7 semapv:UnspecifiedMatching DOID:631 fibromyalgia oboInOwl:hasDbXref MESH:D005356 semapv:UnspecifiedMatching DOID:631 fibromyalgia oboInOwl:hasDbXref NCI:C87497 semapv:UnspecifiedMatching -DOID:631 fibromyalgia oboInOwl:hasDbXref UMLS_CUI:C0016053 semapv:UnspecifiedMatching +DOID:631 fibromyalgia oboInOwl:hasDbXref UMLS:C0016053 semapv:UnspecifiedMatching DOID:6312 clivus chordoma oboInOwl:hasDbXref NCI:C5412 semapv:UnspecifiedMatching -DOID:6312 clivus chordoma oboInOwl:hasDbXref UMLS_CUI:C1333071 semapv:UnspecifiedMatching +DOID:6312 clivus chordoma oboInOwl:hasDbXref UMLS:C1333071 semapv:UnspecifiedMatching DOID:6313 clivus chondroid chordoma oboInOwl:hasDbXref NCI:C5426 semapv:UnspecifiedMatching -DOID:6313 clivus chondroid chordoma oboInOwl:hasDbXref UMLS_CUI:C1333072 semapv:UnspecifiedMatching +DOID:6313 clivus chondroid chordoma oboInOwl:hasDbXref UMLS:C1333072 semapv:UnspecifiedMatching DOID:6314 ovarian fetiform teratoma oboInOwl:hasDbXref NCI:C39996 semapv:UnspecifiedMatching -DOID:6314 ovarian fetiform teratoma oboInOwl:hasDbXref UMLS_CUI:C1518715 semapv:UnspecifiedMatching +DOID:6314 ovarian fetiform teratoma oboInOwl:hasDbXref UMLS:C1518715 semapv:UnspecifiedMatching DOID:6315 ovarian solid teratoma oboInOwl:hasDbXref NCI:C7285 semapv:UnspecifiedMatching -DOID:6315 ovarian solid teratoma oboInOwl:hasDbXref UMLS_CUI:C1335181 semapv:UnspecifiedMatching +DOID:6315 ovarian solid teratoma oboInOwl:hasDbXref UMLS:C1335181 semapv:UnspecifiedMatching DOID:6316 Bartholin's gland adenocarcinoma oboInOwl:hasDbXref NCI:C7719 semapv:UnspecifiedMatching -DOID:6316 Bartholin's gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0238016 semapv:UnspecifiedMatching +DOID:6316 Bartholin's gland adenocarcinoma oboInOwl:hasDbXref UMLS:C0238016 semapv:UnspecifiedMatching DOID:6322 tibial adamantinoma oboInOwl:hasDbXref NCI:C8461 semapv:UnspecifiedMatching -DOID:6322 tibial adamantinoma oboInOwl:hasDbXref UMLS_CUI:C1273017 semapv:UnspecifiedMatching +DOID:6322 tibial adamantinoma oboInOwl:hasDbXref UMLS:C1273017 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref ICD10CM:M60 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref MESH:D009220 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref NCI:C27578 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref OMIM:160750 semapv:UnspecifiedMatching -DOID:633 myositis oboInOwl:hasDbXref UMLS_CUI:C0027121 semapv:UnspecifiedMatching +DOID:633 myositis oboInOwl:hasDbXref UMLS:C0027121 semapv:UnspecifiedMatching DOID:633 myositis skos:exactMatch OMIM:160750 semapv:UnspecifiedMatching DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref NCI:C8111 semapv:UnspecifiedMatching -DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346182 semapv:UnspecifiedMatching +DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref UMLS:C0346182 semapv:UnspecifiedMatching DOID:6332 adult malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C7946 semapv:UnspecifiedMatching -DOID:6332 adult malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0279547 semapv:UnspecifiedMatching +DOID:6332 adult malignant hemangiopericytoma oboInOwl:hasDbXref UMLS:C0279547 semapv:UnspecifiedMatching DOID:6333 adult intracranial malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C9183 semapv:UnspecifiedMatching -DOID:6333 adult intracranial malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1334558 semapv:UnspecifiedMatching +DOID:6333 adult intracranial malignant hemangiopericytoma oboInOwl:hasDbXref UMLS:C1334558 semapv:UnspecifiedMatching DOID:6334 anterior optic tract meningioma oboInOwl:hasDbXref NCI:C7538 semapv:UnspecifiedMatching -DOID:6334 anterior optic tract meningioma oboInOwl:hasDbXref UMLS_CUI:C1332308 semapv:UnspecifiedMatching +DOID:6334 anterior optic tract meningioma oboInOwl:hasDbXref UMLS:C1332308 semapv:UnspecifiedMatching DOID:6335 bilateral meningioma of optic nerve oboInOwl:hasDbXref MESH:C000608854 semapv:UnspecifiedMatching DOID:6335 bilateral meningioma of optic nerve oboInOwl:hasDbXref NCI:C5304 semapv:UnspecifiedMatching -DOID:6335 bilateral meningioma of optic nerve oboInOwl:hasDbXref UMLS_CUI:C1332551 semapv:UnspecifiedMatching +DOID:6335 bilateral meningioma of optic nerve oboInOwl:hasDbXref UMLS:C1332551 semapv:UnspecifiedMatching DOID:6337 cerebellopontine angle meningioma oboInOwl:hasDbXref NCI:C5300 semapv:UnspecifiedMatching -DOID:6337 cerebellopontine angle meningioma oboInOwl:hasDbXref UMLS_CUI:C1263882 semapv:UnspecifiedMatching +DOID:6337 cerebellopontine angle meningioma oboInOwl:hasDbXref UMLS:C1263882 semapv:UnspecifiedMatching DOID:6339 vulvar eccrine adenocarcinoma oboInOwl:hasDbXref NCI:C40305 semapv:UnspecifiedMatching DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C6910 semapv:UnspecifiedMatching -DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C1321709 semapv:UnspecifiedMatching +DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C1321709 semapv:UnspecifiedMatching DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath oboInOwl:hasDbXref NCI:C4748 semapv:UnspecifiedMatching -DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath oboInOwl:hasDbXref UMLS_CUI:C0474847 semapv:UnspecifiedMatching +DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath oboInOwl:hasDbXref UMLS:C0474847 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref EFO:0000765 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref ICD10CM:B20 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref MESH:D000163 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref NCI:C2851 semapv:UnspecifiedMatching -DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref UMLS_CUI:C0001175 semapv:UnspecifiedMatching +DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C0001175 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome skos:exactMatch MESH:D000163 semapv:UnspecifiedMatching DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref ICDO:9823/3 semapv:UnspecifiedMatching DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref NCI:C27911 semapv:UnspecifiedMatching -DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C1302547 semapv:UnspecifiedMatching +DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS:C1302547 semapv:UnspecifiedMatching DOID:636 central pontine myelinolysis oboInOwl:hasDbXref GARD:8749 semapv:UnspecifiedMatching DOID:636 central pontine myelinolysis oboInOwl:hasDbXref ICD10CM:G37.2 semapv:UnspecifiedMatching DOID:636 central pontine myelinolysis oboInOwl:hasDbXref MESH:D017590 semapv:UnspecifiedMatching DOID:636 central pontine myelinolysis oboInOwl:hasDbXref NCI:C84623 semapv:UnspecifiedMatching -DOID:636 central pontine myelinolysis oboInOwl:hasDbXref UMLS_CUI:C0206083 semapv:UnspecifiedMatching +DOID:636 central pontine myelinolysis oboInOwl:hasDbXref UMLS:C0206083 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref EFO:0003821 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref ICD10CM:G43 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref ICD9CM:346 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref MESH:D008881 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref NCI:C89715 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref OMIM:157300 semapv:UnspecifiedMatching -DOID:6364 migraine oboInOwl:hasDbXref UMLS_CUI:C0042331 semapv:UnspecifiedMatching -DOID:6364 migraine oboInOwl:hasDbXref UMLS_CUI:C0149931 semapv:UnspecifiedMatching +DOID:6364 migraine oboInOwl:hasDbXref UMLS:C0042331 semapv:UnspecifiedMatching +DOID:6364 migraine oboInOwl:hasDbXref UMLS:C0149931 semapv:UnspecifiedMatching DOID:6364 migraine skos:exactMatch OMIM:157300 semapv:UnspecifiedMatching DOID:6367 acral lentiginous melanoma oboInOwl:hasDbXref GARD:9570 semapv:UnspecifiedMatching DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref NCI:C5833 semapv:UnspecifiedMatching -DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333974 semapv:UnspecifiedMatching +DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1333974 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref ICD10CM:D73.1 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref ICD9CM:289.4 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref MESH:D006971 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref NCI:C34714 semapv:UnspecifiedMatching -DOID:6376 hypersplenism oboInOwl:hasDbXref UMLS_CUI:C0020532 semapv:UnspecifiedMatching +DOID:6376 hypersplenism oboInOwl:hasDbXref UMLS:C0020532 semapv:UnspecifiedMatching DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref ICDO:8728/0 semapv:UnspecifiedMatching DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref NCI:C6890 semapv:UnspecifiedMatching DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref ORDO:252031 semapv:UnspecifiedMatching -DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref UMLS_CUI:C1266112 semapv:UnspecifiedMatching +DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref UMLS:C1266112 semapv:UnspecifiedMatching DOID:6381 anterior foramen magnum meningioma oboInOwl:hasDbXref NCI:C5281 semapv:UnspecifiedMatching -DOID:6381 anterior foramen magnum meningioma oboInOwl:hasDbXref UMLS_CUI:C1332302 semapv:UnspecifiedMatching +DOID:6381 anterior foramen magnum meningioma oboInOwl:hasDbXref UMLS:C1332302 semapv:UnspecifiedMatching DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref GARD:9306 semapv:UnspecifiedMatching DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref NCI:C9042 semapv:UnspecifiedMatching -DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref UMLS_CUI:C0278600 semapv:UnspecifiedMatching +DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref UMLS:C0278600 semapv:UnspecifiedMatching DOID:6386 childhood brainstem astrocytoma oboInOwl:hasDbXref NCI:C6216 semapv:UnspecifiedMatching -DOID:6386 childhood brainstem astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1332950 semapv:UnspecifiedMatching +DOID:6386 childhood brainstem astrocytoma oboInOwl:hasDbXref UMLS:C1332950 semapv:UnspecifiedMatching DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref GARD:8639 semapv:UnspecifiedMatching DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref MESH:D004673 semapv:UnspecifiedMatching DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref NCI:C34578 semapv:UnspecifiedMatching -DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS_CUI:C0014059 semapv:UnspecifiedMatching +DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS:C0014059 semapv:UnspecifiedMatching DOID:640 encephalomyelitis oboInOwl:hasDbXref MESH:D004679 semapv:UnspecifiedMatching DOID:640 encephalomyelitis oboInOwl:hasDbXref NCI:C34580 semapv:UnspecifiedMatching -DOID:640 encephalomyelitis oboInOwl:hasDbXref UMLS_CUI:C0014070 semapv:UnspecifiedMatching +DOID:640 encephalomyelitis oboInOwl:hasDbXref UMLS:C0014070 semapv:UnspecifiedMatching DOID:640 encephalomyelitis skos:exactMatch MESH:D004679 semapv:UnspecifiedMatching DOID:6404 metanephric adenoma oboInOwl:hasDbXref ICDO:8325/0 semapv:UnspecifiedMatching DOID:6404 metanephric adenoma oboInOwl:hasDbXref NCI:C27253 semapv:UnspecifiedMatching -DOID:6404 metanephric adenoma oboInOwl:hasDbXref UMLS_CUI:C1266045 semapv:UnspecifiedMatching +DOID:6404 metanephric adenoma oboInOwl:hasDbXref UMLS:C1266045 semapv:UnspecifiedMatching DOID:6405 ovarian papillary cystadenoma oboInOwl:hasDbXref NCI:C7278 semapv:UnspecifiedMatching -DOID:6405 ovarian papillary cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335175 semapv:UnspecifiedMatching +DOID:6405 ovarian papillary cystadenoma oboInOwl:hasDbXref UMLS:C1335175 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref GARD:1908 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ICD10CM:Q20.1 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ICD9CM:745.11 semapv:UnspecifiedMatching @@ -33095,51 +33408,51 @@ DOID:6406 double outlet right ventricle oboInOwl:hasDbXref MESH:D004310 semapv:U DOID:6406 double outlet right ventricle oboInOwl:hasDbXref NCI:C98916 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ORDO:3426 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref UMLS_CUI:C0013069 semapv:UnspecifiedMatching +DOID:6406 double outlet right ventricle oboInOwl:hasDbXref UMLS:C0013069 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle skos:exactMatch OMIM:217095 semapv:UnspecifiedMatching DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref NCI:C7279 semapv:UnspecifiedMatching -DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref UMLS_CUI:C1335183 semapv:UnspecifiedMatching +DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref UMLS:C1335183 semapv:UnspecifiedMatching DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref NCI:C6256 semapv:UnspecifiedMatching -DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335178 semapv:UnspecifiedMatching +DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref UMLS:C1335178 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref GARD:2245 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD10CM:Q21.3 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD9CM:745.2 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref MESH:D013771 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref NCI:C84505 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref UMLS_CUI:C0039685 semapv:UnspecifiedMatching +DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref UMLS:C0039685 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot skos:exactMatch OMIM:187500 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref GARD:4596 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching -DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0034089 semapv:UnspecifiedMatching +DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref UMLS:C0034089 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis skos:exactMatch OMIM:265500 semapv:UnspecifiedMatching DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref NCI:C27404 semapv:UnspecifiedMatching -DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332955 semapv:UnspecifiedMatching +DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref UMLS:C1332955 semapv:UnspecifiedMatching DOID:6425 eyelid carcinoma oboInOwl:hasDbXref NCI:C6078 semapv:UnspecifiedMatching -DOID:6425 eyelid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0920196 semapv:UnspecifiedMatching +DOID:6425 eyelid carcinoma oboInOwl:hasDbXref UMLS:C0920196 semapv:UnspecifiedMatching DOID:6428 cervical adenoid basal carcinoma oboInOwl:hasDbXref NCI:C40213 semapv:UnspecifiedMatching -DOID:6428 cervical adenoid basal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516403 semapv:UnspecifiedMatching +DOID:6428 cervical adenoid basal carcinoma oboInOwl:hasDbXref UMLS:C1516403 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref GARD:7468 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10CM:A81.2 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD9CM:046.3 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref NCI:C26815 semapv:UnspecifiedMatching -DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS_CUI:C0023524 semapv:UnspecifiedMatching +DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS:C0023524 semapv:UnspecifiedMatching DOID:6432 pulmonary hypertension oboInOwl:hasDbXref ICD10CM:I27.20 semapv:UnspecifiedMatching DOID:6432 pulmonary hypertension oboInOwl:hasDbXref MESH:D006976 semapv:UnspecifiedMatching DOID:6432 pulmonary hypertension oboInOwl:hasDbXref NCI:C3120 semapv:UnspecifiedMatching -DOID:6432 pulmonary hypertension oboInOwl:hasDbXref UMLS_CUI:C0020542 semapv:UnspecifiedMatching +DOID:6432 pulmonary hypertension oboInOwl:hasDbXref UMLS:C0020542 semapv:UnspecifiedMatching DOID:6438 malignant choroid melanoma oboInOwl:hasDbXref NCI:C4561 semapv:UnspecifiedMatching -DOID:6438 malignant choroid melanoma oboInOwl:hasDbXref UMLS_CUI:C0346388 semapv:UnspecifiedMatching +DOID:6438 malignant choroid melanoma oboInOwl:hasDbXref UMLS:C0346388 semapv:UnspecifiedMatching DOID:6445 ovarian endometrioid malignant adenofibroma oboInOwl:hasDbXref NCI:C40060 semapv:UnspecifiedMatching -DOID:6445 ovarian endometrioid malignant adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518711 semapv:UnspecifiedMatching +DOID:6445 ovarian endometrioid malignant adenofibroma oboInOwl:hasDbXref UMLS:C1518711 semapv:UnspecifiedMatching DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref ICDO:8420/3 semapv:UnspecifiedMatching DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref NCI:C4176 semapv:UnspecifiedMatching -DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334353 semapv:UnspecifiedMatching +DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref UMLS:C0334353 semapv:UnspecifiedMatching DOID:6448 vulvar apocrine adenocarcinoma oboInOwl:hasDbXref NCI:C40308 semapv:UnspecifiedMatching DOID:6451 central nervous system fibrosarcoma oboInOwl:hasDbXref NCI:C5465 semapv:UnspecifiedMatching -DOID:6451 central nervous system fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332879 semapv:UnspecifiedMatching +DOID:6451 central nervous system fibrosarcoma oboInOwl:hasDbXref UMLS:C1332879 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref GARD:6202 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref ICDO:9493/0 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching @@ -33147,278 +33460,278 @@ DOID:6457 Cowden syndrome oboInOwl:hasDbXref NCI:C3076 semapv:UnspecifiedMatchin DOID:6457 Cowden syndrome oboInOwl:hasDbXref NCI:C8419 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref OMIMPS:158350 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref ORDO:201 semapv:UnspecifiedMatching -DOID:6457 Cowden syndrome oboInOwl:hasDbXref UMLS_CUI:C0018553 semapv:UnspecifiedMatching -DOID:6457 Cowden syndrome oboInOwl:hasDbXref UMLS_CUI:C0391826 semapv:UnspecifiedMatching +DOID:6457 Cowden syndrome oboInOwl:hasDbXref UMLS:C0018553 semapv:UnspecifiedMatching +DOID:6457 Cowden syndrome oboInOwl:hasDbXref UMLS:C0391826 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome skos:exactMatch OMIMPS:158350 semapv:UnspecifiedMatching DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref GARD:10642 semapv:UnspecifiedMatching DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref ICDO:9506/1 semapv:UnspecifiedMatching DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref NCI:C6905 semapv:UnspecifiedMatching -DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref UMLS_CUI:C1370507 semapv:UnspecifiedMatching +DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref UMLS:C1370507 semapv:UnspecifiedMatching DOID:6459 rectal lipoma oboInOwl:hasDbXref NCI:C5551 semapv:UnspecifiedMatching -DOID:6459 rectal lipoma oboInOwl:hasDbXref UMLS_CUI:C1335684 semapv:UnspecifiedMatching +DOID:6459 rectal lipoma oboInOwl:hasDbXref UMLS:C1335684 semapv:UnspecifiedMatching DOID:646 viral encephalitis oboInOwl:hasDbXref MESH:D004671 semapv:UnspecifiedMatching DOID:646 viral encephalitis oboInOwl:hasDbXref NCI:C34576 semapv:UnspecifiedMatching -DOID:646 viral encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014055 semapv:UnspecifiedMatching +DOID:646 viral encephalitis oboInOwl:hasDbXref UMLS:C0014055 semapv:UnspecifiedMatching DOID:6460 large intestine lipoma oboInOwl:hasDbXref NCI:C5678 semapv:UnspecifiedMatching -DOID:6460 large intestine lipoma oboInOwl:hasDbXref UMLS_CUI:C1333114 semapv:UnspecifiedMatching +DOID:6460 large intestine lipoma oboInOwl:hasDbXref UMLS:C1333114 semapv:UnspecifiedMatching DOID:6468 mucinous cystadenofibroma oboInOwl:hasDbXref NCI:C8979 semapv:UnspecifiedMatching -DOID:6468 mucinous cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1377844 semapv:UnspecifiedMatching +DOID:6468 mucinous cystadenofibroma oboInOwl:hasDbXref UMLS:C1377844 semapv:UnspecifiedMatching DOID:6469 ovarian mucinous adenofibroma oboInOwl:hasDbXref NCI:C40040 semapv:UnspecifiedMatching -DOID:6469 ovarian mucinous adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518723 semapv:UnspecifiedMatching +DOID:6469 ovarian mucinous adenofibroma oboInOwl:hasDbXref UMLS:C1518723 semapv:UnspecifiedMatching DOID:6474 childhood teratocarcinoma of the testis oboInOwl:hasDbXref NCI:C6539 semapv:UnspecifiedMatching -DOID:6474 childhood teratocarcinoma of the testis oboInOwl:hasDbXref UMLS_CUI:C1333008 semapv:UnspecifiedMatching +DOID:6474 childhood teratocarcinoma of the testis oboInOwl:hasDbXref UMLS:C1333008 semapv:UnspecifiedMatching DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39827 semapv:UnspecifiedMatching -DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512737 semapv:UnspecifiedMatching +DOID:6476 clear cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1512737 semapv:UnspecifiedMatching DOID:6477 invasive bladder transitional cell carcinoma oboInOwl:hasDbXref NCI:C27885 semapv:UnspecifiedMatching -DOID:6477 invasive bladder transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334281 semapv:UnspecifiedMatching +DOID:6477 invasive bladder transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1334281 semapv:UnspecifiedMatching DOID:648 kuru oboInOwl:hasDbXref GARD:7617 semapv:UnspecifiedMatching DOID:648 kuru oboInOwl:hasDbXref ICD10CM:A81.81 semapv:UnspecifiedMatching DOID:648 kuru oboInOwl:hasDbXref ICD9CM:046.0 semapv:UnspecifiedMatching DOID:648 kuru oboInOwl:hasDbXref MESH:D007729 semapv:UnspecifiedMatching -DOID:648 kuru oboInOwl:hasDbXref UMLS_CUI:C0022802 semapv:UnspecifiedMatching +DOID:648 kuru oboInOwl:hasDbXref UMLS:C0022802 semapv:UnspecifiedMatching DOID:6481 bladder signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C6163 semapv:UnspecifiedMatching -DOID:6481 bladder signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332563 semapv:UnspecifiedMatching +DOID:6481 bladder signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1332563 semapv:UnspecifiedMatching DOID:6482 lung acinar adenocarcinoma oboInOwl:hasDbXref NCI:C5649 semapv:UnspecifiedMatching -DOID:6482 lung acinar adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332137 semapv:UnspecifiedMatching +DOID:6482 lung acinar adenocarcinoma oboInOwl:hasDbXref UMLS:C1332137 semapv:UnspecifiedMatching DOID:6483 rete testis adenoma oboInOwl:hasDbXref NCI:C39956 semapv:UnspecifiedMatching -DOID:6483 rete testis adenoma oboInOwl:hasDbXref UMLS_CUI:C1514910 semapv:UnspecifiedMatching +DOID:6483 rete testis adenoma oboInOwl:hasDbXref UMLS:C1514910 semapv:UnspecifiedMatching DOID:6484 mediastinal melanocytic neurilemmoma oboInOwl:hasDbXref NCI:C6635 semapv:UnspecifiedMatching -DOID:6484 mediastinal melanocytic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1334668 semapv:UnspecifiedMatching +DOID:6484 mediastinal melanocytic neurilemmoma oboInOwl:hasDbXref UMLS:C1334668 semapv:UnspecifiedMatching DOID:6489 periosteal osteogenic sarcoma oboInOwl:hasDbXref NCI:C8970 semapv:UnspecifiedMatching -DOID:6489 periosteal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1377843 semapv:UnspecifiedMatching +DOID:6489 periosteal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1377843 semapv:UnspecifiedMatching DOID:649 prion disease oboInOwl:hasDbXref ICD10CM:A81.9 semapv:UnspecifiedMatching DOID:649 prion disease oboInOwl:hasDbXref KEGG:05020 semapv:UnspecifiedMatching DOID:649 prion disease oboInOwl:hasDbXref MESH:D017096 semapv:UnspecifiedMatching DOID:649 prion disease oboInOwl:hasDbXref NCI:C128346 semapv:UnspecifiedMatching -DOID:649 prion disease oboInOwl:hasDbXref UMLS_CUI:C0162534 semapv:UnspecifiedMatching +DOID:649 prion disease oboInOwl:hasDbXref UMLS:C0162534 semapv:UnspecifiedMatching DOID:6491 breast capillary hemangioma oboInOwl:hasDbXref NCI:C5210 semapv:UnspecifiedMatching -DOID:6491 breast capillary hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332619 semapv:UnspecifiedMatching +DOID:6491 breast capillary hemangioma oboInOwl:hasDbXref UMLS:C1332619 semapv:UnspecifiedMatching DOID:6492 breast epithelioid hemangioma oboInOwl:hasDbXref NCI:C5211 semapv:UnspecifiedMatching -DOID:6492 breast epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332627 semapv:UnspecifiedMatching +DOID:6492 breast epithelioid hemangioma oboInOwl:hasDbXref UMLS:C1332627 semapv:UnspecifiedMatching DOID:6494 childhood myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C27377 semapv:UnspecifiedMatching -DOID:6494 childhood myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332984 semapv:UnspecifiedMatching +DOID:6494 childhood myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1332984 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref GARD:3108 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD9CM:702.1 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref MESH:D017492 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref NCI:C9006 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref OMIM:182000 semapv:UnspecifiedMatching -DOID:6498 seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C0022603 semapv:UnspecifiedMatching +DOID:6498 seborrheic keratosis oboInOwl:hasDbXref UMLS:C0022603 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis skos:exactMatch OMIM:182000 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref MESH:D003240 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref NCI:C26729 semapv:UnspecifiedMatching -DOID:65 connective tissue disease oboInOwl:hasDbXref UMLS_CUI:C0009782 semapv:UnspecifiedMatching +DOID:65 connective tissue disease oboInOwl:hasDbXref UMLS:C0009782 semapv:UnspecifiedMatching DOID:6500 cerebellar angioblastoma oboInOwl:hasDbXref NCI:C5146 semapv:UnspecifiedMatching -DOID:6500 cerebellar angioblastoma oboInOwl:hasDbXref UMLS_CUI:C1332900 semapv:UnspecifiedMatching +DOID:6500 cerebellar angioblastoma oboInOwl:hasDbXref UMLS:C1332900 semapv:UnspecifiedMatching DOID:6501 brain stem angioblastoma oboInOwl:hasDbXref NCI:C5147 semapv:UnspecifiedMatching -DOID:6501 brain stem angioblastoma oboInOwl:hasDbXref UMLS_CUI:C1332611 semapv:UnspecifiedMatching +DOID:6501 brain stem angioblastoma oboInOwl:hasDbXref UMLS:C1332611 semapv:UnspecifiedMatching DOID:6505 vaginal spindle cell epithelioma oboInOwl:hasDbXref NCI:C40280 semapv:UnspecifiedMatching -DOID:6505 vaginal spindle cell epithelioma oboInOwl:hasDbXref UMLS_CUI:C1511107 semapv:UnspecifiedMatching +DOID:6505 vaginal spindle cell epithelioma oboInOwl:hasDbXref UMLS:C1511107 semapv:UnspecifiedMatching DOID:6510 lung occult squamous cell carcinoma oboInOwl:hasDbXref NCI:C6686 semapv:UnspecifiedMatching -DOID:6510 lung occult squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335100 semapv:UnspecifiedMatching +DOID:6510 lung occult squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1335100 semapv:UnspecifiedMatching DOID:6511 glandular pattern ovarian yolk sac tumor oboInOwl:hasDbXref NCI:C39988 semapv:UnspecifiedMatching -DOID:6511 glandular pattern ovarian yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1518747 semapv:UnspecifiedMatching +DOID:6511 glandular pattern ovarian yolk sac tumor oboInOwl:hasDbXref UMLS:C1518747 semapv:UnspecifiedMatching DOID:6512 hepatoid pattern ovarian yolk sac tumor oboInOwl:hasDbXref NCI:C39989 semapv:UnspecifiedMatching -DOID:6512 hepatoid pattern ovarian yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1518748 semapv:UnspecifiedMatching +DOID:6512 hepatoid pattern ovarian yolk sac tumor oboInOwl:hasDbXref UMLS:C1518748 semapv:UnspecifiedMatching DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor oboInOwl:hasDbXref NCI:C39987 semapv:UnspecifiedMatching -DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1518749 semapv:UnspecifiedMatching +DOID:6514 polyvesicular vitelline pattern ovarian yolk sac tumor oboInOwl:hasDbXref UMLS:C1518749 semapv:UnspecifiedMatching DOID:6517 clivus meningioma oboInOwl:hasDbXref NCI:C5289 semapv:UnspecifiedMatching -DOID:6517 clivus meningioma oboInOwl:hasDbXref UMLS_CUI:C1333073 semapv:UnspecifiedMatching +DOID:6517 clivus meningioma oboInOwl:hasDbXref UMLS:C1333073 semapv:UnspecifiedMatching DOID:6518 Bartholin's gland adenomyoma oboInOwl:hasDbXref NCI:C40300 semapv:UnspecifiedMatching -DOID:6518 Bartholin's gland adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1511049 semapv:UnspecifiedMatching +DOID:6518 Bartholin's gland adenomyoma oboInOwl:hasDbXref UMLS:C1511049 semapv:UnspecifiedMatching DOID:6522 mixed cell uveal melanoma oboInOwl:hasDbXref NCI:C35781 semapv:UnspecifiedMatching -DOID:6522 mixed cell uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C1334782 semapv:UnspecifiedMatching +DOID:6522 mixed cell uveal melanoma oboInOwl:hasDbXref UMLS:C1334782 semapv:UnspecifiedMatching DOID:6523 ciliary body mixed cell melanoma oboInOwl:hasDbXref NCI:C35783 semapv:UnspecifiedMatching -DOID:6523 ciliary body mixed cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333051 semapv:UnspecifiedMatching +DOID:6523 ciliary body mixed cell melanoma oboInOwl:hasDbXref UMLS:C1333051 semapv:UnspecifiedMatching DOID:6524 malignant ciliary body melanoma oboInOwl:hasDbXref NCI:C4558 semapv:UnspecifiedMatching -DOID:6524 malignant ciliary body melanoma oboInOwl:hasDbXref UMLS_CUI:C0346379 semapv:UnspecifiedMatching +DOID:6524 malignant ciliary body melanoma oboInOwl:hasDbXref UMLS:C0346379 semapv:UnspecifiedMatching DOID:6525 choroid mixed cell melanoma oboInOwl:hasDbXref NCI:C35782 semapv:UnspecifiedMatching -DOID:6525 choroid mixed cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333025 semapv:UnspecifiedMatching +DOID:6525 choroid mixed cell melanoma oboInOwl:hasDbXref UMLS:C1333025 semapv:UnspecifiedMatching DOID:653 purine-pyrimidine metabolic disorder oboInOwl:hasDbXref ICD10CM:E79.8 semapv:UnspecifiedMatching DOID:653 purine-pyrimidine metabolic disorder oboInOwl:hasDbXref ICD9CM:277.2 semapv:UnspecifiedMatching -DOID:653 purine-pyrimidine metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0029595 semapv:UnspecifiedMatching +DOID:653 purine-pyrimidine metabolic disorder oboInOwl:hasDbXref UMLS:C0029595 semapv:UnspecifiedMatching DOID:6530 thymoma type B2 oboInOwl:hasDbXref NCI:C6888 semapv:UnspecifiedMatching -DOID:6530 thymoma type B2 oboInOwl:hasDbXref UMLS_CUI:C1266095 semapv:UnspecifiedMatching +DOID:6530 thymoma type B2 oboInOwl:hasDbXref UMLS:C1266095 semapv:UnspecifiedMatching DOID:6536 plasma cell neoplasm oboInOwl:hasDbXref EFO:0000200 semapv:UnspecifiedMatching DOID:6536 plasma cell neoplasm oboInOwl:hasDbXref MESH:D010265 semapv:UnspecifiedMatching -DOID:6536 plasma cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1136084 semapv:UnspecifiedMatching +DOID:6536 plasma cell neoplasm oboInOwl:hasDbXref UMLS:C1136084 semapv:UnspecifiedMatching DOID:654 overnutrition oboInOwl:hasDbXref MESH:D044343 semapv:UnspecifiedMatching -DOID:654 overnutrition oboInOwl:hasDbXref UMLS_CUI:C1257763 semapv:UnspecifiedMatching +DOID:654 overnutrition oboInOwl:hasDbXref UMLS:C1257763 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD10CM:L70 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD10CM:L70.2 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD9CM:706.0 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref MESH:D000152 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref OMIM:604324 semapv:UnspecifiedMatching -DOID:6543 acne oboInOwl:hasDbXref UMLS_CUI:C0152249 semapv:UnspecifiedMatching -DOID:6543 acne oboInOwl:hasDbXref UMLS_CUI:C0702166 semapv:UnspecifiedMatching +DOID:6543 acne oboInOwl:hasDbXref UMLS:C0152249 semapv:UnspecifiedMatching +DOID:6543 acne oboInOwl:hasDbXref UMLS:C0702166 semapv:UnspecifiedMatching DOID:6543 acne skos:exactMatch OMIM:604324 semapv:UnspecifiedMatching DOID:6547 heart lymphoma oboInOwl:hasDbXref NCI:C5368 semapv:UnspecifiedMatching -DOID:6547 heart lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332850 semapv:UnspecifiedMatching +DOID:6547 heart lymphoma oboInOwl:hasDbXref UMLS:C1332850 semapv:UnspecifiedMatching DOID:6548 angiomatous meningioma oboInOwl:hasDbXref ICDO:9534/0 semapv:UnspecifiedMatching DOID:6548 angiomatous meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:6548 angiomatous meningioma oboInOwl:hasDbXref NCI:C4332 semapv:UnspecifiedMatching -DOID:6548 angiomatous meningioma oboInOwl:hasDbXref UMLS_CUI:C0334608 semapv:UnspecifiedMatching +DOID:6548 angiomatous meningioma oboInOwl:hasDbXref UMLS:C0334608 semapv:UnspecifiedMatching DOID:655 inherited metabolic disorder oboInOwl:hasDbXref MESH:D008661 semapv:UnspecifiedMatching DOID:655 inherited metabolic disorder oboInOwl:hasDbXref NCI:C34816 semapv:UnspecifiedMatching -DOID:655 inherited metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0025521 semapv:UnspecifiedMatching +DOID:655 inherited metabolic disorder oboInOwl:hasDbXref UMLS:C0025521 semapv:UnspecifiedMatching DOID:6552 gastric small cell carcinoma oboInOwl:hasDbXref NCI:C6764 semapv:UnspecifiedMatching -DOID:6552 gastric small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333788 semapv:UnspecifiedMatching +DOID:6552 gastric small cell carcinoma oboInOwl:hasDbXref UMLS:C1333788 semapv:UnspecifiedMatching DOID:6553 posterior foramen magnum meningioma oboInOwl:hasDbXref NCI:C5282 semapv:UnspecifiedMatching -DOID:6553 posterior foramen magnum meningioma oboInOwl:hasDbXref UMLS_CUI:C1335449 semapv:UnspecifiedMatching +DOID:6553 posterior foramen magnum meningioma oboInOwl:hasDbXref UMLS:C1335449 semapv:UnspecifiedMatching DOID:6554 ovarian clear cell malignant adenofibroma oboInOwl:hasDbXref NCI:C40079 semapv:UnspecifiedMatching DOID:6559 ethmoid sinus Schneiderian papilloma oboInOwl:hasDbXref NCI:C6836 semapv:UnspecifiedMatching -DOID:6559 ethmoid sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1333476 semapv:UnspecifiedMatching +DOID:6559 ethmoid sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS:C1333476 semapv:UnspecifiedMatching DOID:656 adrenal adenoma oboInOwl:hasDbXref GARD:5745 semapv:UnspecifiedMatching DOID:6562 ethmoid sinus inverted papilloma oboInOwl:hasDbXref NCI:C6843 semapv:UnspecifiedMatching -DOID:6562 ethmoid sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1333474 semapv:UnspecifiedMatching +DOID:6562 ethmoid sinus inverted papilloma oboInOwl:hasDbXref UMLS:C1333474 semapv:UnspecifiedMatching DOID:6564 neurilemmoma of the pleura oboInOwl:hasDbXref NCI:C5418 semapv:UnspecifiedMatching -DOID:6564 neurilemmoma of the pleura oboInOwl:hasDbXref UMLS_CUI:C1335435 semapv:UnspecifiedMatching +DOID:6564 neurilemmoma of the pleura oboInOwl:hasDbXref UMLS:C1335435 semapv:UnspecifiedMatching DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref NCI:C9089 semapv:UnspecifiedMatching DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref NCI:C9090 semapv:UnspecifiedMatching -DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0278867 semapv:UnspecifiedMatching -DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0278868 semapv:UnspecifiedMatching +DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS:C0278867 semapv:UnspecifiedMatching +DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS:C0278868 semapv:UnspecifiedMatching DOID:6567 uterine corpus myxoid leiomyosarcoma oboInOwl:hasDbXref NCI:C40175 semapv:UnspecifiedMatching -DOID:6567 uterine corpus myxoid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519861 semapv:UnspecifiedMatching +DOID:6567 uterine corpus myxoid leiomyosarcoma oboInOwl:hasDbXref UMLS:C1519861 semapv:UnspecifiedMatching DOID:6569 micropapillomatosis labialis oboInOwl:hasDbXref NCI:C40290 semapv:UnspecifiedMatching -DOID:6569 micropapillomatosis labialis oboInOwl:hasDbXref UMLS_CUI:C1519982 semapv:UnspecifiedMatching +DOID:6569 micropapillomatosis labialis oboInOwl:hasDbXref UMLS:C1519982 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref ICDO:8140/0 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref MESH:D000236 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref NCI:C2855 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref NCI:C4196 semapv:UnspecifiedMatching -DOID:657 adenoma oboInOwl:hasDbXref UMLS_CUI:C0001430 semapv:UnspecifiedMatching -DOID:657 adenoma oboInOwl:hasDbXref UMLS_CUI:C0334389 semapv:UnspecifiedMatching +DOID:657 adenoma oboInOwl:hasDbXref UMLS:C0001430 semapv:UnspecifiedMatching +DOID:657 adenoma oboInOwl:hasDbXref UMLS:C0334389 semapv:UnspecifiedMatching DOID:657 adenoma skos:exactMatch MESH:D000236 semapv:UnspecifiedMatching DOID:6575 childhood optic tract astrocytoma oboInOwl:hasDbXref NCI:C7534 semapv:UnspecifiedMatching -DOID:6575 childhood optic tract astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1333014 semapv:UnspecifiedMatching +DOID:6575 childhood optic tract astrocytoma oboInOwl:hasDbXref UMLS:C1333014 semapv:UnspecifiedMatching DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref MESH:D020339 semapv:UnspecifiedMatching DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref NCI:C7535 semapv:UnspecifiedMatching -DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref UMLS_CUI:C0278653 semapv:UnspecifiedMatching +DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref UMLS:C0278653 semapv:UnspecifiedMatching DOID:6579 chest wall bone cancer oboInOwl:hasDbXref NCI:C6724 semapv:UnspecifiedMatching -DOID:6579 chest wall bone cancer oboInOwl:hasDbXref UMLS_CUI:C1334572 semapv:UnspecifiedMatching +DOID:6579 chest wall bone cancer oboInOwl:hasDbXref UMLS:C1334572 semapv:UnspecifiedMatching DOID:6581 breast apocrine carcinoma oboInOwl:hasDbXref NCI:C5141 semapv:UnspecifiedMatching -DOID:6581 breast apocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332316 semapv:UnspecifiedMatching +DOID:6581 breast apocrine carcinoma oboInOwl:hasDbXref UMLS:C1332316 semapv:UnspecifiedMatching DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref ICDO:8290/3 semapv:UnspecifiedMatching DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref NCI:C40366 semapv:UnspecifiedMatching -DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518574 semapv:UnspecifiedMatching +DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref UMLS:C1518574 semapv:UnspecifiedMatching DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref ICDO:8211/3 semapv:UnspecifiedMatching DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref NCI:C9135 semapv:UnspecifiedMatching -DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1328544 semapv:UnspecifiedMatching +DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref UMLS:C1328544 semapv:UnspecifiedMatching DOID:6590 spondylitis oboInOwl:hasDbXref ICD10CM:M46 semapv:UnspecifiedMatching DOID:6590 spondylitis oboInOwl:hasDbXref ICD9CM:720.8 semapv:UnspecifiedMatching -DOID:6590 spondylitis oboInOwl:hasDbXref UMLS_CUI:C0029644 semapv:UnspecifiedMatching +DOID:6590 spondylitis oboInOwl:hasDbXref UMLS:C0029644 semapv:UnspecifiedMatching DOID:6590 spondylitis skos:exactMatch MESH:D013166 semapv:UnspecifiedMatching DOID:6594 bladder colonic type adenocarcinoma oboInOwl:hasDbXref NCI:C39835 semapv:UnspecifiedMatching -DOID:6594 bladder colonic type adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511188 semapv:UnspecifiedMatching +DOID:6594 bladder colonic type adenocarcinoma oboInOwl:hasDbXref UMLS:C1511188 semapv:UnspecifiedMatching DOID:6595 gastric tubular adenocarcinoma oboInOwl:hasDbXref NCI:C5473 semapv:UnspecifiedMatching -DOID:6595 gastric tubular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333791 semapv:UnspecifiedMatching +DOID:6595 gastric tubular adenocarcinoma oboInOwl:hasDbXref UMLS:C1333791 semapv:UnspecifiedMatching DOID:660 adrenal cortex cancer oboInOwl:hasDbXref ICD10CM:C74.0 semapv:UnspecifiedMatching DOID:660 adrenal cortex cancer oboInOwl:hasDbXref MESH:D000306 semapv:UnspecifiedMatching DOID:660 adrenal cortex cancer oboInOwl:hasDbXref NCI:C2858 semapv:UnspecifiedMatching DOID:660 adrenal cortex cancer oboInOwl:hasDbXref NCI:C9327 semapv:UnspecifiedMatching -DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS_CUI:C0001618 semapv:UnspecifiedMatching -DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS_CUI:C0346402 semapv:UnspecifiedMatching +DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS:C0001618 semapv:UnspecifiedMatching +DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS:C0346402 semapv:UnspecifiedMatching DOID:6603 Kummell's disease oboInOwl:hasDbXref ICD10CM:M48.3 semapv:UnspecifiedMatching DOID:6603 Kummell's disease oboInOwl:hasDbXref ICD9CM:721.7 semapv:UnspecifiedMatching -DOID:6603 Kummell's disease oboInOwl:hasDbXref UMLS_CUI:C0152088 semapv:UnspecifiedMatching +DOID:6603 Kummell's disease oboInOwl:hasDbXref UMLS:C0152088 semapv:UnspecifiedMatching DOID:6605 classic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C27888 semapv:UnspecifiedMatching -DOID:6605 classic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333062 semapv:UnspecifiedMatching +DOID:6605 classic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS:C1333062 semapv:UnspecifiedMatching DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C27889 semapv:UnspecifiedMatching -DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333405 semapv:UnspecifiedMatching +DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS:C1333405 semapv:UnspecifiedMatching DOID:6607 nervous system hibernoma oboInOwl:hasDbXref NCI:C6997 semapv:UnspecifiedMatching DOID:6608 endobronchial leiomyoma oboInOwl:hasDbXref NCI:C5661 semapv:UnspecifiedMatching -DOID:6608 endobronchial leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333386 semapv:UnspecifiedMatching +DOID:6608 endobronchial leiomyoma oboInOwl:hasDbXref UMLS:C1333386 semapv:UnspecifiedMatching DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref NCI:C5396 semapv:UnspecifiedMatching DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref NCI:C6477 semapv:UnspecifiedMatching -DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332575 semapv:UnspecifiedMatching -DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332578 semapv:UnspecifiedMatching +DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS:C1332575 semapv:UnspecifiedMatching +DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS:C1332578 semapv:UnspecifiedMatching DOID:6612 leukocyte adhesion deficiency oboInOwl:hasDbXref GARD:9544 semapv:UnspecifiedMatching DOID:6612 leukocyte adhesion deficiency oboInOwl:hasDbXref MESH:D018370 semapv:UnspecifiedMatching DOID:6612 leukocyte adhesion deficiency oboInOwl:hasDbXref ORDO:2968 semapv:UnspecifiedMatching -DOID:6612 leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS_CUI:C0242597 semapv:UnspecifiedMatching +DOID:6612 leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS:C0242597 semapv:UnspecifiedMatching DOID:6613 vaginal villous adenoma oboInOwl:hasDbXref NCI:C40259 semapv:UnspecifiedMatching -DOID:6613 vaginal villous adenoma oboInOwl:hasDbXref UMLS_CUI:C1519936 semapv:UnspecifiedMatching +DOID:6613 vaginal villous adenoma oboInOwl:hasDbXref UMLS:C1519936 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref GARD:73 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref MESH:D053306 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref NCI:C3990 semapv:UnspecifiedMatching -DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref UMLS_CUI:C0272236 semapv:UnspecifiedMatching +DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref UMLS:C0272236 semapv:UnspecifiedMatching DOID:6621 cerebral angioma oboInOwl:hasDbXref NCI:C5433 semapv:UnspecifiedMatching -DOID:6621 cerebral angioma oboInOwl:hasDbXref UMLS_CUI:C0877388 semapv:UnspecifiedMatching +DOID:6621 cerebral angioma oboInOwl:hasDbXref UMLS:C0877388 semapv:UnspecifiedMatching DOID:6627 cervical adenoma malignum oboInOwl:hasDbXref NCI:C40206 semapv:UnspecifiedMatching -DOID:6627 cervical adenoma malignum oboInOwl:hasDbXref UMLS_CUI:C1516423 semapv:UnspecifiedMatching +DOID:6627 cervical adenoma malignum oboInOwl:hasDbXref UMLS:C1516423 semapv:UnspecifiedMatching DOID:6629 nipple carcinoma oboInOwl:hasDbXref NCI:C28432 semapv:UnspecifiedMatching -DOID:6629 nipple carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334966 semapv:UnspecifiedMatching +DOID:6629 nipple carcinoma oboInOwl:hasDbXref UMLS:C1334966 semapv:UnspecifiedMatching DOID:663 scrotal angioma oboInOwl:hasDbXref NCI:C6387 semapv:UnspecifiedMatching -DOID:663 scrotal angioma oboInOwl:hasDbXref UMLS_CUI:C1335936 semapv:UnspecifiedMatching +DOID:663 scrotal angioma oboInOwl:hasDbXref UMLS:C1335936 semapv:UnspecifiedMatching DOID:6634 adult central nervous system choriocarcinoma oboInOwl:hasDbXref NCI:C5793 semapv:UnspecifiedMatching -DOID:6634 adult central nervous system choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1370505 semapv:UnspecifiedMatching +DOID:6634 adult central nervous system choriocarcinoma oboInOwl:hasDbXref UMLS:C1370505 semapv:UnspecifiedMatching DOID:6639 childhood CNS choriocarcinoma oboInOwl:hasDbXref NCI:C6206 semapv:UnspecifiedMatching -DOID:6639 childhood CNS choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1377604 semapv:UnspecifiedMatching +DOID:6639 childhood CNS choriocarcinoma oboInOwl:hasDbXref UMLS:C1377604 semapv:UnspecifiedMatching DOID:664 angiokeratoma of Fordyce oboInOwl:hasDbXref NCI:C7752 semapv:UnspecifiedMatching -DOID:664 angiokeratoma of Fordyce oboInOwl:hasDbXref UMLS_CUI:C0263639 semapv:UnspecifiedMatching +DOID:664 angiokeratoma of Fordyce oboInOwl:hasDbXref UMLS:C0263639 semapv:UnspecifiedMatching DOID:6641 breast juvenile papillomatosis oboInOwl:hasDbXref NCI:C9503 semapv:UnspecifiedMatching -DOID:6641 breast juvenile papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334303 semapv:UnspecifiedMatching +DOID:6641 breast juvenile papillomatosis oboInOwl:hasDbXref UMLS:C1334303 semapv:UnspecifiedMatching DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref ICD10CM:M48.2 semapv:UnspecifiedMatching DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref ICD9CM:721.5 semapv:UnspecifiedMatching -DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref UMLS_CUI:C0158248 semapv:UnspecifiedMatching +DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref UMLS:C0158248 semapv:UnspecifiedMatching DOID:6648 adult pineoblastoma oboInOwl:hasDbXref NCI:C8292 semapv:UnspecifiedMatching -DOID:6648 adult pineoblastoma oboInOwl:hasDbXref UMLS_CUI:C0281332 semapv:UnspecifiedMatching +DOID:6648 adult pineoblastoma oboInOwl:hasDbXref UMLS:C0281332 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref GARD:6460 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD10CM:M48.1 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD9CM:721.6 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref MESH:D004057 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref NCI:C84671 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref UMLS_CUI:C0020498 semapv:UnspecifiedMatching +DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref UMLS:C0020498 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 semapv:UnspecifiedMatching DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref NCI:C27405 semapv:UnspecifiedMatching -DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332954 semapv:UnspecifiedMatching +DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref UMLS:C1332954 semapv:UnspecifiedMatching DOID:6657 breast large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C40356 semapv:UnspecifiedMatching -DOID:6657 breast large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511316 semapv:UnspecifiedMatching +DOID:6657 breast large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1511316 semapv:UnspecifiedMatching DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C5672 semapv:UnspecifiedMatching DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C6875 semapv:UnspecifiedMatching -DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1265996 semapv:UnspecifiedMatching -DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334363 semapv:UnspecifiedMatching +DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1265996 semapv:UnspecifiedMatching +DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1334363 semapv:UnspecifiedMatching DOID:6659 cervical large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C40214 semapv:UnspecifiedMatching -DOID:6659 cervical large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516417 semapv:UnspecifiedMatching +DOID:6659 cervical large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1516417 semapv:UnspecifiedMatching DOID:6676 Froelich syndrome oboInOwl:hasDbXref GARD:6463 semapv:UnspecifiedMatching DOID:6676 Froelich syndrome oboInOwl:hasDbXref ICD10CM:E23.6 semapv:UnspecifiedMatching DOID:6676 Froelich syndrome oboInOwl:hasDbXref MESH:D007027 semapv:UnspecifiedMatching DOID:6676 Froelich syndrome oboInOwl:hasDbXref NCI:C34625 semapv:UnspecifiedMatching -DOID:6676 Froelich syndrome oboInOwl:hasDbXref UMLS_CUI:C0016724 semapv:UnspecifiedMatching +DOID:6676 Froelich syndrome oboInOwl:hasDbXref UMLS:C0016724 semapv:UnspecifiedMatching DOID:6677 diffuse infiltrative lymphocytosis syndrome oboInOwl:hasDbXref NCI:C35699 semapv:UnspecifiedMatching -DOID:6677 diffuse infiltrative lymphocytosis syndrome oboInOwl:hasDbXref UMLS_CUI:C1333292 semapv:UnspecifiedMatching +DOID:6677 diffuse infiltrative lymphocytosis syndrome oboInOwl:hasDbXref UMLS:C1333292 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref MESH:C536736 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref NCI:C40553 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref OMIM:189500 semapv:UnspecifiedMatching -DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref UMLS_CUI:C0406735 semapv:UnspecifiedMatching +DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref UMLS:C0406735 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome skos:exactMatch OMIM:189500 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref NCI:C3253 semapv:UnspecifiedMatching -DOID:668 myositis ossificans oboInOwl:hasDbXref UMLS_CUI:C0027122 semapv:UnspecifiedMatching +DOID:668 myositis ossificans oboInOwl:hasDbXref UMLS:C0027122 semapv:UnspecifiedMatching DOID:6680 Capgras syndrome oboInOwl:hasDbXref MESH:D002194 semapv:UnspecifiedMatching DOID:6680 Capgras syndrome oboInOwl:hasDbXref NCI:C34446 semapv:UnspecifiedMatching -DOID:6680 Capgras syndrome oboInOwl:hasDbXref UMLS_CUI:C0006895 semapv:UnspecifiedMatching +DOID:6680 Capgras syndrome oboInOwl:hasDbXref UMLS:C0006895 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref ICD10CM:M43.1 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref MESH:D013168 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref NCI:C35033 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref OMIM:184200 semapv:UnspecifiedMatching -DOID:6682 spondylolisthesis oboInOwl:hasDbXref UMLS_CUI:C0038016 semapv:UnspecifiedMatching +DOID:6682 spondylolisthesis oboInOwl:hasDbXref UMLS:C0038016 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis skos:exactMatch OMIM:184200 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref GARD:4775 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref MESH:C535331 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref NCI:C129720 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref OMIM:305400 semapv:UnspecifiedMatching -DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref UMLS_CUI:C0175701 semapv:UnspecifiedMatching +DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref UMLS:C0175701 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome skos:exactMatch OMIM:305400 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref GARD:8176 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref MESH:C536012 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref NCI:C35809 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref OMIM:100700 semapv:UnspecifiedMatching -DOID:6686 Achard syndrome oboInOwl:hasDbXref UMLS_CUI:C1332135 semapv:UnspecifiedMatching +DOID:6686 Achard syndrome oboInOwl:hasDbXref UMLS:C1332135 semapv:UnspecifiedMatching DOID:6686 Achard syndrome skos:exactMatch OMIM:100700 semapv:UnspecifiedMatching DOID:6687 Achenbach syndrome oboInOwl:hasDbXref NCI:C35467 semapv:UnspecifiedMatching -DOID:6687 Achenbach syndrome oboInOwl:hasDbXref UMLS_CUI:C0473563 semapv:UnspecifiedMatching +DOID:6687 Achenbach syndrome oboInOwl:hasDbXref UMLS:C0473563 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref GARD:8686 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10CM:D89.82 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD9CM:279.41 semapv:UnspecifiedMatching @@ -33426,7 +33739,7 @@ DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D05673 DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref NCI:C37864 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:3261 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS_CUI:C1328840 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C1328840 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome skos:exactMatch MESH:D056735 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref GARD:370 semapv:UnspecifiedMatching @@ -33434,52 +33747,52 @@ DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref MESH:C535330 semapv:UnspecifiedMa DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref NCI:C35709 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref ORDO:1414 semapv:UnspecifiedMatching -DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref UMLS_CUI:C0268314 semapv:UnspecifiedMatching +DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref UMLS:C0268314 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome skos:exactMatch OMIM:214900 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref ICD10CM:M53.0 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref MESH:D055010 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref NCI:C34411 semapv:UnspecifiedMatching -DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref UMLS_CUI:C0376378 semapv:UnspecifiedMatching +DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref UMLS:C0376378 semapv:UnspecifiedMatching DOID:6693 testicular monophasic choriocarcinoma oboInOwl:hasDbXref NCI:C39935 semapv:UnspecifiedMatching -DOID:6693 testicular monophasic choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515290 semapv:UnspecifiedMatching +DOID:6693 testicular monophasic choriocarcinoma oboInOwl:hasDbXref UMLS:C1515290 semapv:UnspecifiedMatching DOID:6696 synchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6471 semapv:UnspecifiedMatching -DOID:6696 synchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336544 semapv:UnspecifiedMatching +DOID:6696 synchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1336544 semapv:UnspecifiedMatching DOID:6697 asynchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6472 semapv:UnspecifiedMatching -DOID:6697 asynchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332342 semapv:UnspecifiedMatching +DOID:6697 asynchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1332342 semapv:UnspecifiedMatching DOID:670 amphetamine abuse oboInOwl:hasDbXref ICD9CM:305.7 semapv:UnspecifiedMatching -DOID:670 amphetamine abuse oboInOwl:hasDbXref UMLS_CUI:C0154536 semapv:UnspecifiedMatching +DOID:670 amphetamine abuse oboInOwl:hasDbXref UMLS:C0154536 semapv:UnspecifiedMatching DOID:6700 gastric fundus carcinoma oboInOwl:hasDbXref NCI:C8398 semapv:UnspecifiedMatching -DOID:6700 gastric fundus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345799 semapv:UnspecifiedMatching +DOID:6700 gastric fundus carcinoma oboInOwl:hasDbXref UMLS:C0345799 semapv:UnspecifiedMatching DOID:6703 gastric pylorus carcinoma oboInOwl:hasDbXref NCI:C6795 semapv:UnspecifiedMatching -DOID:6703 gastric pylorus carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333787 semapv:UnspecifiedMatching +DOID:6703 gastric pylorus carcinoma oboInOwl:hasDbXref UMLS:C1333787 semapv:UnspecifiedMatching DOID:6705 gastric body carcinoma oboInOwl:hasDbXref NCI:C8399 semapv:UnspecifiedMatching -DOID:6705 gastric body carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345804 semapv:UnspecifiedMatching +DOID:6705 gastric body carcinoma oboInOwl:hasDbXref UMLS:C0345804 semapv:UnspecifiedMatching DOID:6706 tubular variant testicular seminoma oboInOwl:hasDbXref NCI:C40959 semapv:UnspecifiedMatching -DOID:6706 tubular variant testicular seminoma oboInOwl:hasDbXref UMLS_CUI:C1515294 semapv:UnspecifiedMatching +DOID:6706 tubular variant testicular seminoma oboInOwl:hasDbXref UMLS:C1515294 semapv:UnspecifiedMatching DOID:6707 malignant triton tumor oboInOwl:hasDbXref NCI:C4335 semapv:UnspecifiedMatching -DOID:6707 malignant triton tumor oboInOwl:hasDbXref UMLS_CUI:C0334616 semapv:UnspecifiedMatching +DOID:6707 malignant triton tumor oboInOwl:hasDbXref UMLS:C0334616 semapv:UnspecifiedMatching DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref GARD:9653 semapv:UnspecifiedMatching DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref ICD10CM:G83.82 semapv:UnspecifiedMatching DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref MESH:D020759 semapv:UnspecifiedMatching -DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref UMLS_CUI:C0221069 semapv:UnspecifiedMatching +DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref UMLS:C0221069 semapv:UnspecifiedMatching DOID:6712 anterior spinal artery syndrome skos:exactMatch MESH:D020759 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref EFO:0000712 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref ICD10CM:I67.9 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref ICD9CM:437.9 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref MESH:D002561 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref NCI:C2938 semapv:UnspecifiedMatching -DOID:6713 cerebrovascular disease oboInOwl:hasDbXref UMLS_CUI:C0007820 semapv:UnspecifiedMatching +DOID:6713 cerebrovascular disease oboInOwl:hasDbXref UMLS:C0007820 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref GARD:7683 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref ICD10CM:C26.1 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref MESH:D013160 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref NCI:C3383 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref NCI:C3539 semapv:UnspecifiedMatching -DOID:672 spleen cancer oboInOwl:hasDbXref UMLS_CUI:C0037999 semapv:UnspecifiedMatching -DOID:672 spleen cancer oboInOwl:hasDbXref UMLS_CUI:C0153470 semapv:UnspecifiedMatching +DOID:672 spleen cancer oboInOwl:hasDbXref UMLS:C0037999 semapv:UnspecifiedMatching +DOID:672 spleen cancer oboInOwl:hasDbXref UMLS:C0153470 semapv:UnspecifiedMatching DOID:6721 Littre gland carcinoma oboInOwl:hasDbXref NCI:C39865 semapv:UnspecifiedMatching -DOID:6721 Littre gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516285 semapv:UnspecifiedMatching +DOID:6721 Littre gland carcinoma oboInOwl:hasDbXref UMLS:C1516285 semapv:UnspecifiedMatching DOID:6723 malignant type AB thymoma oboInOwl:hasDbXref NCI:C6886 semapv:UnspecifiedMatching -DOID:6723 malignant type AB thymoma oboInOwl:hasDbXref UMLS_CUI:C1266093 semapv:UnspecifiedMatching +DOID:6723 malignant type AB thymoma oboInOwl:hasDbXref UMLS:C1266093 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.0 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.02 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.061 semapv:UnspecifiedMatching @@ -33488,40 +33801,40 @@ DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD9CM:724.00 semapv:UnspecifiedMat DOID:6725 spinal stenosis oboInOwl:hasDbXref MESH:D013130 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref NCI:C177444 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref NCI:C177445 semapv:UnspecifiedMatching -DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS_CUI:C0037944 semapv:UnspecifiedMatching -DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS_CUI:C0158280 semapv:UnspecifiedMatching -DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS_CUI:C0158288 semapv:UnspecifiedMatching +DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS:C0037944 semapv:UnspecifiedMatching +DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS:C0158280 semapv:UnspecifiedMatching +DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS:C0158288 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref ICDO:9420/3 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref NCI:C4322 semapv:UnspecifiedMatching -DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334582 semapv:UnspecifiedMatching +DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref UMLS:C0334582 semapv:UnspecifiedMatching DOID:6727 colon small cell carcinoma oboInOwl:hasDbXref NCI:C6761 semapv:UnspecifiedMatching -DOID:6727 colon small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333099 semapv:UnspecifiedMatching +DOID:6727 colon small cell carcinoma oboInOwl:hasDbXref UMLS:C1333099 semapv:UnspecifiedMatching DOID:6733 intrahepatic bile duct cystadenoma oboInOwl:hasDbXref NCI:C96835 semapv:UnspecifiedMatching -DOID:6733 intrahepatic bile duct cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1334257 semapv:UnspecifiedMatching +DOID:6733 intrahepatic bile duct cystadenoma oboInOwl:hasDbXref UMLS:C1334257 semapv:UnspecifiedMatching DOID:6735 schwannoma of jugular foramen oboInOwl:hasDbXref NCI:C5323 semapv:UnspecifiedMatching -DOID:6735 schwannoma of jugular foramen oboInOwl:hasDbXref UMLS_CUI:C1334300 semapv:UnspecifiedMatching +DOID:6735 schwannoma of jugular foramen oboInOwl:hasDbXref UMLS:C1334300 semapv:UnspecifiedMatching DOID:674 cleft palate oboInOwl:hasDbXref ICD10CM:Q35 semapv:UnspecifiedMatching DOID:674 cleft palate oboInOwl:hasDbXref ICD9CM:749.0 semapv:UnspecifiedMatching DOID:674 cleft palate oboInOwl:hasDbXref MESH:D002972 semapv:UnspecifiedMatching DOID:674 cleft palate oboInOwl:hasDbXref NCI:C87069 semapv:UnspecifiedMatching DOID:674 cleft palate oboInOwl:hasDbXref ORDO:99772 semapv:UnspecifiedMatching -DOID:674 cleft palate oboInOwl:hasDbXref UMLS_CUI:C0008925 semapv:UnspecifiedMatching +DOID:674 cleft palate oboInOwl:hasDbXref UMLS:C0008925 semapv:UnspecifiedMatching DOID:6740 cervix small cell carcinoma oboInOwl:hasDbXref NCI:C7982 semapv:UnspecifiedMatching -DOID:6740 cervix small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279674 semapv:UnspecifiedMatching +DOID:6740 cervix small cell carcinoma oboInOwl:hasDbXref UMLS:C0279674 semapv:UnspecifiedMatching DOID:6741 bilateral breast cancer oboInOwl:hasDbXref NCI:C8287 semapv:UnspecifiedMatching -DOID:6741 bilateral breast cancer oboInOwl:hasDbXref UMLS_CUI:C0281267 semapv:UnspecifiedMatching +DOID:6741 bilateral breast cancer oboInOwl:hasDbXref UMLS:C0281267 semapv:UnspecifiedMatching DOID:6742 synchronous bilateral breast carcinoma oboInOwl:hasDbXref NCI:C40370 semapv:UnspecifiedMatching -DOID:6742 synchronous bilateral breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1515107 semapv:UnspecifiedMatching +DOID:6742 synchronous bilateral breast carcinoma oboInOwl:hasDbXref UMLS:C1515107 semapv:UnspecifiedMatching DOID:6752 internal auditory canal lipoma oboInOwl:hasDbXref NCI:C5452 semapv:UnspecifiedMatching -DOID:6752 internal auditory canal lipoma oboInOwl:hasDbXref UMLS_CUI:C1334226 semapv:UnspecifiedMatching -DOID:6755 amyloid tumor oboInOwl:hasDbXref UMLS_CUI:C0333572 semapv:UnspecifiedMatching +DOID:6752 internal auditory canal lipoma oboInOwl:hasDbXref UMLS:C1334226 semapv:UnspecifiedMatching +DOID:6755 amyloid tumor oboInOwl:hasDbXref UMLS:C0333572 semapv:UnspecifiedMatching DOID:6758 chest wall lymphoma oboInOwl:hasDbXref NCI:C4580 semapv:UnspecifiedMatching DOID:6758 chest wall lymphoma oboInOwl:hasDbXref NCI:C6712 semapv:UnspecifiedMatching -DOID:6758 chest wall lymphoma oboInOwl:hasDbXref UMLS_CUI:C0346948 semapv:UnspecifiedMatching -DOID:6758 chest wall lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332933 semapv:UnspecifiedMatching +DOID:6758 chest wall lymphoma oboInOwl:hasDbXref UMLS:C0346948 semapv:UnspecifiedMatching +DOID:6758 chest wall lymphoma oboInOwl:hasDbXref UMLS:C1332933 semapv:UnspecifiedMatching DOID:6759 bone lymphoma oboInOwl:hasDbXref NCI:C6620 semapv:UnspecifiedMatching -DOID:6759 bone lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332582 semapv:UnspecifiedMatching +DOID:6759 bone lymphoma oboInOwl:hasDbXref UMLS:C1332582 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref GARD:3067 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ICD10CM:M08.4 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.3 semapv:UnspecifiedMatching @@ -33532,20 +33845,20 @@ DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref NCI:C26979 semapv:Unsp DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref NCI:C61279 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ORDO:92 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0157916 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0157917 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0157918 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0409667 semapv:UnspecifiedMatching +DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0157916 semapv:UnspecifiedMatching +DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0157917 semapv:UnspecifiedMatching +DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0157918 semapv:UnspecifiedMatching +DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0409667 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis skos:exactMatch OMIM:604302 semapv:UnspecifiedMatching -DOID:6760 lung lymphoma oboInOwl:hasDbXref UMLS_CUI:C0519063 semapv:UnspecifiedMatching +DOID:6760 lung lymphoma oboInOwl:hasDbXref UMLS:C0519063 semapv:UnspecifiedMatching DOID:6762 sternum lymphoma oboInOwl:hasDbXref NCI:C6716 semapv:UnspecifiedMatching -DOID:6762 sternum lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336504 semapv:UnspecifiedMatching +DOID:6762 sternum lymphoma oboInOwl:hasDbXref UMLS:C1336504 semapv:UnspecifiedMatching DOID:6774 polyembryoma of the ovary oboInOwl:hasDbXref NCI:C39990 semapv:UnspecifiedMatching -DOID:6774 polyembryoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1514199 semapv:UnspecifiedMatching +DOID:6774 polyembryoma of the ovary oboInOwl:hasDbXref UMLS:C1514199 semapv:UnspecifiedMatching DOID:6776 breast myoepithelial carcinoma oboInOwl:hasDbXref NCI:C40395 semapv:UnspecifiedMatching -DOID:6776 breast myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518167 semapv:UnspecifiedMatching +DOID:6776 breast myoepithelial carcinoma oboInOwl:hasDbXref UMLS:C1518167 semapv:UnspecifiedMatching DOID:6777 villoglandular endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C27846 semapv:UnspecifiedMatching -DOID:6777 villoglandular endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336962 semapv:UnspecifiedMatching +DOID:6777 villoglandular endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1336962 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref GARD:7471 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref ICD10CM:G23.1 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref MESH:D013494 semapv:UnspecifiedMatching @@ -33554,57 +33867,57 @@ DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref OMIM:601104 semapv:Un DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref ORDO:683 semapv:UnspecifiedMatching -DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref UMLS_CUI:C0038868 semapv:UnspecifiedMatching +DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref UMLS:C0038868 semapv:UnspecifiedMatching DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref GARD:6265 semapv:UnspecifiedMatching DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref ICDO:8806/3 semapv:UnspecifiedMatching DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref NCI:C8300 semapv:UnspecifiedMatching DOID:6786 childhood botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C35574 semapv:UnspecifiedMatching -DOID:6786 childhood botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332944 semapv:UnspecifiedMatching +DOID:6786 childhood botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332944 semapv:UnspecifiedMatching DOID:6787 childhood vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C35556 semapv:UnspecifiedMatching -DOID:6787 childhood vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332945 semapv:UnspecifiedMatching +DOID:6787 childhood vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332945 semapv:UnspecifiedMatching DOID:6788 vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C40268 semapv:UnspecifiedMatching -DOID:6788 vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1511275 semapv:UnspecifiedMatching +DOID:6788 vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1511275 semapv:UnspecifiedMatching DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C36098 semapv:UnspecifiedMatching -DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332946 semapv:UnspecifiedMatching +DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332946 semapv:UnspecifiedMatching DOID:679 basal ganglia disease oboInOwl:hasDbXref MESH:D001480 semapv:UnspecifiedMatching -DOID:679 basal ganglia disease oboInOwl:hasDbXref UMLS_CUI:C0004782 semapv:UnspecifiedMatching +DOID:679 basal ganglia disease oboInOwl:hasDbXref UMLS:C0004782 semapv:UnspecifiedMatching DOID:680 tauopathy oboInOwl:hasDbXref MESH:D024801 semapv:UnspecifiedMatching -DOID:680 tauopathy oboInOwl:hasDbXref UMLS_CUI:C0949664 semapv:UnspecifiedMatching +DOID:680 tauopathy oboInOwl:hasDbXref UMLS:C0949664 semapv:UnspecifiedMatching DOID:6804 colon Kaposi sarcoma oboInOwl:hasDbXref NCI:C5516 semapv:UnspecifiedMatching -DOID:6804 colon Kaposi sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333091 semapv:UnspecifiedMatching +DOID:6804 colon Kaposi sarcoma oboInOwl:hasDbXref UMLS:C1333091 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref GARD:10928 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref ICD10CM:G12.22 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref ICD9CM:335.22 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref MESH:D010244 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref NCI:C85026 semapv:UnspecifiedMatching -DOID:681 progressive bulbar palsy oboInOwl:hasDbXref UMLS_CUI:C0030442 semapv:UnspecifiedMatching +DOID:681 progressive bulbar palsy oboInOwl:hasDbXref UMLS:C0030442 semapv:UnspecifiedMatching DOID:6811 juvenile pilocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:6811 juvenile pilocytic astrocytoma oboInOwl:hasDbXref NCI:C27081 semapv:UnspecifiedMatching -DOID:6811 juvenile pilocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280783 semapv:UnspecifiedMatching +DOID:6811 juvenile pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C0280783 semapv:UnspecifiedMatching DOID:6812 childhood pilocytic astrocytoma oboInOwl:hasDbXref NCI:C4048 semapv:UnspecifiedMatching -DOID:6812 childhood pilocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1332995 semapv:UnspecifiedMatching +DOID:6812 childhood pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C1332995 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref GARD:6141 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref ICD10CM:T79.A0 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref ICD9CM:958.90 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref MESH:D003161 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref NCI:C118422 semapv:UnspecifiedMatching -DOID:682 compartment syndrome oboInOwl:hasDbXref UMLS_CUI:C0009492 semapv:UnspecifiedMatching +DOID:682 compartment syndrome oboInOwl:hasDbXref UMLS:C0009492 semapv:UnspecifiedMatching DOID:6823 pancreatoblastoma oboInOwl:hasDbXref GARD:4210 semapv:UnspecifiedMatching DOID:6823 pancreatoblastoma oboInOwl:hasDbXref ICDO:8971/3 semapv:UnspecifiedMatching DOID:6823 pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching DOID:6823 pancreatoblastoma oboInOwl:hasDbXref NCI:C4265 semapv:UnspecifiedMatching -DOID:6823 pancreatoblastoma oboInOwl:hasDbXref UMLS_CUI:C0334489 semapv:UnspecifiedMatching +DOID:6823 pancreatoblastoma oboInOwl:hasDbXref UMLS:C0334489 semapv:UnspecifiedMatching DOID:6827 pancreatic solid pseudopapillary carcinoma oboInOwl:hasDbXref NCI:C5728 semapv:UnspecifiedMatching -DOID:6827 pancreatic solid pseudopapillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336029 semapv:UnspecifiedMatching +DOID:6827 pancreatic solid pseudopapillary carcinoma oboInOwl:hasDbXref UMLS:C1336029 semapv:UnspecifiedMatching DOID:683 motor neuritis oboInOwl:hasDbXref MESH:D009443 semapv:UnspecifiedMatching DOID:683 motor neuritis oboInOwl:hasDbXref NCI:C3500 semapv:UnspecifiedMatching -DOID:683 motor neuritis oboInOwl:hasDbXref UMLS_CUI:C0235025 semapv:UnspecifiedMatching +DOID:683 motor neuritis oboInOwl:hasDbXref UMLS:C0235025 semapv:UnspecifiedMatching DOID:6837 rete ovarii adenoma oboInOwl:hasDbXref NCI:C40018 semapv:UnspecifiedMatching -DOID:6837 rete ovarii adenoma oboInOwl:hasDbXref UMLS_CUI:C1514905 semapv:UnspecifiedMatching +DOID:6837 rete ovarii adenoma oboInOwl:hasDbXref UMLS:C1514905 semapv:UnspecifiedMatching DOID:6838 rete ovarii cystadenofibroma oboInOwl:hasDbXref NCI:C40020 semapv:UnspecifiedMatching -DOID:6838 rete ovarii cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1514906 semapv:UnspecifiedMatching +DOID:6838 rete ovarii cystadenofibroma oboInOwl:hasDbXref UMLS:C1514906 semapv:UnspecifiedMatching DOID:6839 breast intraductal proliferative lesion oboInOwl:hasDbXref NCI:C27942 semapv:UnspecifiedMatching -DOID:6839 breast intraductal proliferative lesion oboInOwl:hasDbXref UMLS_CUI:C1334631 semapv:UnspecifiedMatching +DOID:6839 breast intraductal proliferative lesion oboInOwl:hasDbXref UMLS:C1334631 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref EFO:0000182 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ICD10CM:C22.0 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ICDO:8170/3 semapv:UnspecifiedMatching @@ -33612,311 +33925,311 @@ DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref MESH:D006528 semapv:Unspeci DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref NCI:C3099 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ORDO:88673 semapv:UnspecifiedMatching -DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C2239176 semapv:UnspecifiedMatching +DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C2239176 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma skos:exactMatch OMIM:114550 semapv:UnspecifiedMatching DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref NCI:C36086 semapv:UnspecifiedMatching -DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref UMLS_CUI:C1333620 semapv:UnspecifiedMatching +DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref UMLS:C1333620 semapv:UnspecifiedMatching DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref NCI:C6186 semapv:UnspecifiedMatching -DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335752 semapv:UnspecifiedMatching +DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1335752 semapv:UnspecifiedMatching DOID:6845 infiltrating ureter transitional cell carcinoma oboInOwl:hasDbXref NCI:C39879 semapv:UnspecifiedMatching -DOID:6845 infiltrating ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512750 semapv:UnspecifiedMatching +DOID:6845 infiltrating ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS:C1512750 semapv:UnspecifiedMatching DOID:6846 familial melanoma oboInOwl:hasDbXref NCI:C8498 semapv:UnspecifiedMatching -DOID:6846 familial melanoma oboInOwl:hasDbXref UMLS_CUI:C1512419 semapv:UnspecifiedMatching +DOID:6846 familial melanoma oboInOwl:hasDbXref UMLS:C1512419 semapv:UnspecifiedMatching DOID:6847 adult botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C36099 semapv:UnspecifiedMatching -DOID:6847 adult botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332185 semapv:UnspecifiedMatching +DOID:6847 adult botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332185 semapv:UnspecifiedMatching DOID:6848 adult vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C40267 semapv:UnspecifiedMatching -DOID:6848 adult vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1515893 semapv:UnspecifiedMatching +DOID:6848 adult vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1515893 semapv:UnspecifiedMatching DOID:6854 ethmoid sinus ectopic meningioma oboInOwl:hasDbXref NCI:C5309 semapv:UnspecifiedMatching -DOID:6854 ethmoid sinus ectopic meningioma oboInOwl:hasDbXref UMLS_CUI:C1333475 semapv:UnspecifiedMatching +DOID:6854 ethmoid sinus ectopic meningioma oboInOwl:hasDbXref UMLS:C1333475 semapv:UnspecifiedMatching DOID:6856 pineal region teratoma oboInOwl:hasDbXref NCI:C6753 semapv:UnspecifiedMatching -DOID:6856 pineal region teratoma oboInOwl:hasDbXref UMLS_CUI:C1335419 semapv:UnspecifiedMatching +DOID:6856 pineal region teratoma oboInOwl:hasDbXref UMLS:C1335419 semapv:UnspecifiedMatching DOID:6857 pineal region mature teratoma oboInOwl:hasDbXref NCI:C6754 semapv:UnspecifiedMatching -DOID:6857 pineal region mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1335417 semapv:UnspecifiedMatching +DOID:6857 pineal region mature teratoma oboInOwl:hasDbXref UMLS:C1335417 semapv:UnspecifiedMatching DOID:6858 pineal region immature teratoma oboInOwl:hasDbXref NCI:C6755 semapv:UnspecifiedMatching -DOID:6858 pineal region immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1335416 semapv:UnspecifiedMatching +DOID:6858 pineal region immature teratoma oboInOwl:hasDbXref UMLS:C1335416 semapv:UnspecifiedMatching DOID:686 liver carcinoma oboInOwl:hasDbXref NCI:C7927 semapv:UnspecifiedMatching -DOID:686 liver carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279000 semapv:UnspecifiedMatching +DOID:686 liver carcinoma oboInOwl:hasDbXref UMLS:C0279000 semapv:UnspecifiedMatching DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C27849 semapv:UnspecifiedMatching -DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518768 semapv:UnspecifiedMatching +DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1518768 semapv:UnspecifiedMatching DOID:6867 mediastinal gray zone lymphoma oboInOwl:hasDbXref NCI:C37870 semapv:UnspecifiedMatching -DOID:6867 mediastinal gray zone lymphoma oboInOwl:hasDbXref UMLS_CUI:C1334657 semapv:UnspecifiedMatching +DOID:6867 mediastinal gray zone lymphoma oboInOwl:hasDbXref UMLS:C1334657 semapv:UnspecifiedMatching DOID:6868 mediastinal malignant lymphoma oboInOwl:hasDbXref NCI:C6633 semapv:UnspecifiedMatching -DOID:6868 mediastinal malignant lymphoma oboInOwl:hasDbXref UMLS_CUI:C1334665 semapv:UnspecifiedMatching +DOID:6868 mediastinal malignant lymphoma oboInOwl:hasDbXref UMLS:C1334665 semapv:UnspecifiedMatching DOID:6869 parasagittal meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:6869 parasagittal meningioma oboInOwl:hasDbXref NCI:C4960 semapv:UnspecifiedMatching -DOID:6869 parasagittal meningioma oboInOwl:hasDbXref UMLS_CUI:C0751304 semapv:UnspecifiedMatching +DOID:6869 parasagittal meningioma oboInOwl:hasDbXref UMLS:C0751304 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref GARD:2657 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref ICD10CM:C22.2 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref ICDO:8970/3 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref MESH:D018197 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref NCI:C3728 semapv:UnspecifiedMatching -DOID:687 hepatoblastoma oboInOwl:hasDbXref UMLS_CUI:C0206624 semapv:UnspecifiedMatching +DOID:687 hepatoblastoma oboInOwl:hasDbXref UMLS:C0206624 semapv:UnspecifiedMatching DOID:6871 spinal cord neuroblastoma oboInOwl:hasDbXref NCI:C5155 semapv:UnspecifiedMatching -DOID:6871 spinal cord neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1336046 semapv:UnspecifiedMatching +DOID:6871 spinal cord neuroblastoma oboInOwl:hasDbXref UMLS:C1336046 semapv:UnspecifiedMatching DOID:6872 spinal cord primitive neuroectodermal neoplasm oboInOwl:hasDbXref NCI:C5406 semapv:UnspecifiedMatching -DOID:6872 spinal cord primitive neuroectodermal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336048 semapv:UnspecifiedMatching +DOID:6872 spinal cord primitive neuroectodermal neoplasm oboInOwl:hasDbXref UMLS:C1336048 semapv:UnspecifiedMatching DOID:6873 skin tag oboInOwl:hasDbXref NCI:C3374 semapv:UnspecifiedMatching -DOID:6873 skin tag oboInOwl:hasDbXref UMLS_CUI:C0037293 semapv:UnspecifiedMatching +DOID:6873 skin tag oboInOwl:hasDbXref UMLS:C0037293 semapv:UnspecifiedMatching DOID:688 embryonal cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching DOID:688 embryonal cancer oboInOwl:hasDbXref NCI:C3264 semapv:UnspecifiedMatching -DOID:688 embryonal cancer oboInOwl:hasDbXref UMLS_CUI:C0027654 semapv:UnspecifiedMatching +DOID:688 embryonal cancer oboInOwl:hasDbXref UMLS:C0027654 semapv:UnspecifiedMatching DOID:6880 small bowel fibrosarcoma oboInOwl:hasDbXref NCI:C5336 semapv:UnspecifiedMatching -DOID:6880 small bowel fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335994 semapv:UnspecifiedMatching +DOID:6880 small bowel fibrosarcoma oboInOwl:hasDbXref UMLS:C1335994 semapv:UnspecifiedMatching DOID:6886 ureter small cell carcinoma oboInOwl:hasDbXref NCI:C6176 semapv:UnspecifiedMatching -DOID:6886 ureter small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336878 semapv:UnspecifiedMatching +DOID:6886 ureter small cell carcinoma oboInOwl:hasDbXref UMLS:C1336878 semapv:UnspecifiedMatching DOID:6888 ureter transitional cell carcinoma oboInOwl:hasDbXref NCI:C4830 semapv:UnspecifiedMatching -DOID:6888 ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0577692 semapv:UnspecifiedMatching +DOID:6888 ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS:C0577692 semapv:UnspecifiedMatching DOID:6898 ovarian seromucinous carcinoma oboInOwl:hasDbXref NCI:C40090 semapv:UnspecifiedMatching -DOID:6898 ovarian seromucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279392 semapv:UnspecifiedMatching +DOID:6898 ovarian seromucinous carcinoma oboInOwl:hasDbXref UMLS:C0279392 semapv:UnspecifiedMatching DOID:6901 familiar ovarian carcinoma oboInOwl:hasDbXref NCI:C36102 semapv:UnspecifiedMatching -DOID:6901 familiar ovarian carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333992 semapv:UnspecifiedMatching +DOID:6901 familiar ovarian carcinoma oboInOwl:hasDbXref UMLS:C1333992 semapv:UnspecifiedMatching DOID:6903 eye lymphoma oboInOwl:hasDbXref NCI:C35690 semapv:UnspecifiedMatching -DOID:6903 eye lymphoma oboInOwl:hasDbXref UMLS_CUI:C0730306 semapv:UnspecifiedMatching +DOID:6903 eye lymphoma oboInOwl:hasDbXref UMLS:C0730306 semapv:UnspecifiedMatching DOID:6906 glomangiomatosis oboInOwl:hasDbXref ICDO:8711/1 semapv:UnspecifiedMatching DOID:6906 glomangiomatosis oboInOwl:hasDbXref NCI:C27496 semapv:UnspecifiedMatching -DOID:6906 glomangiomatosis oboInOwl:hasDbXref UMLS_CUI:C1333824 semapv:UnspecifiedMatching +DOID:6906 glomangiomatosis oboInOwl:hasDbXref UMLS:C1333824 semapv:UnspecifiedMatching DOID:6917 predominantly cortical thymoma oboInOwl:hasDbXref NCI:C6887 semapv:UnspecifiedMatching -DOID:6917 predominantly cortical thymoma oboInOwl:hasDbXref UMLS_CUI:C1266094 semapv:UnspecifiedMatching +DOID:6917 predominantly cortical thymoma oboInOwl:hasDbXref UMLS:C1266094 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref ICD10CM:G57.3 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref MESH:D020427 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref NCI:C27061 semapv:UnspecifiedMatching -DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C0270810 semapv:UnspecifiedMatching +DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref UMLS:C0270810 semapv:UnspecifiedMatching DOID:6929 retinal edema oboInOwl:hasDbXref ICD10CM:H35.81 semapv:UnspecifiedMatching DOID:6929 retinal edema oboInOwl:hasDbXref ICD9CM:362.83 semapv:UnspecifiedMatching DOID:6929 retinal edema oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching -DOID:6929 retinal edema oboInOwl:hasDbXref UMLS_CUI:C0242420 semapv:UnspecifiedMatching +DOID:6929 retinal edema oboInOwl:hasDbXref UMLS:C0242420 semapv:UnspecifiedMatching DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref MESH:D003744 semapv:UnspecifiedMatching DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref NCI:C34529 semapv:UnspecifiedMatching -DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0011351 semapv:UnspecifiedMatching -DOID:6931 papillary extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0861858 semapv:UnspecifiedMatching +DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref UMLS:C0011351 semapv:UnspecifiedMatching +DOID:6931 papillary extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref UMLS:C0861858 semapv:UnspecifiedMatching DOID:6932 urinary bladder inverted papilloma oboInOwl:hasDbXref NCI:C39859 semapv:UnspecifiedMatching -DOID:6932 urinary bladder inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1511190 semapv:UnspecifiedMatching +DOID:6932 urinary bladder inverted papilloma oboInOwl:hasDbXref UMLS:C1511190 semapv:UnspecifiedMatching DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref NCI:C3842 semapv:UnspecifiedMatching DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref NCI:C39858 semapv:UnspecifiedMatching -DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS_CUI:C0235754 semapv:UnspecifiedMatching -DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS_CUI:C1384678 semapv:UnspecifiedMatching +DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS:C0235754 semapv:UnspecifiedMatching +DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS:C1384678 semapv:UnspecifiedMatching DOID:6934 urethra inverted papilloma oboInOwl:hasDbXref NCI:C6173 semapv:UnspecifiedMatching -DOID:6934 urethra inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1336887 semapv:UnspecifiedMatching +DOID:6934 urethra inverted papilloma oboInOwl:hasDbXref UMLS:C1336887 semapv:UnspecifiedMatching DOID:6935 ureter inverted papilloma oboInOwl:hasDbXref NCI:C6174 semapv:UnspecifiedMatching -DOID:6935 ureter inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1336874 semapv:UnspecifiedMatching +DOID:6935 ureter inverted papilloma oboInOwl:hasDbXref UMLS:C1336874 semapv:UnspecifiedMatching DOID:6936 ureter urothelial papilloma oboInOwl:hasDbXref NCI:C6160 semapv:UnspecifiedMatching -DOID:6936 ureter urothelial papilloma oboInOwl:hasDbXref UMLS_CUI:C1519823 semapv:UnspecifiedMatching +DOID:6936 ureter urothelial papilloma oboInOwl:hasDbXref UMLS:C1519823 semapv:UnspecifiedMatching DOID:6938 childhood intraocular retinoblastoma oboInOwl:hasDbXref NCI:C9047 semapv:UnspecifiedMatching -DOID:6938 childhood intraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C1321869 semapv:UnspecifiedMatching +DOID:6938 childhood intraocular retinoblastoma oboInOwl:hasDbXref UMLS:C1321869 semapv:UnspecifiedMatching DOID:6939 childhood brain meningioma oboInOwl:hasDbXref NCI:C6253 semapv:UnspecifiedMatching -DOID:6939 childhood brain meningioma oboInOwl:hasDbXref UMLS_CUI:C1332949 semapv:UnspecifiedMatching +DOID:6939 childhood brain meningioma oboInOwl:hasDbXref UMLS:C1332949 semapv:UnspecifiedMatching DOID:6943 vulvar inverted follicular keratosis oboInOwl:hasDbXref NCI:C40291 semapv:UnspecifiedMatching -DOID:6943 vulvar inverted follicular keratosis oboInOwl:hasDbXref UMLS_CUI:C1520084 semapv:UnspecifiedMatching +DOID:6943 vulvar inverted follicular keratosis oboInOwl:hasDbXref UMLS:C1520084 semapv:UnspecifiedMatching DOID:6944 vulvar seborrheic keratosis oboInOwl:hasDbXref NCI:C6375 semapv:UnspecifiedMatching -DOID:6944 vulvar seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C1336981 semapv:UnspecifiedMatching +DOID:6944 vulvar seborrheic keratosis oboInOwl:hasDbXref UMLS:C1336981 semapv:UnspecifiedMatching DOID:6945 inverted follicular keratosis oboInOwl:hasDbXref NCI:C9007 semapv:UnspecifiedMatching -DOID:6945 inverted follicular keratosis oboInOwl:hasDbXref UMLS_CUI:C0334019 semapv:UnspecifiedMatching +DOID:6945 inverted follicular keratosis oboInOwl:hasDbXref UMLS:C0334019 semapv:UnspecifiedMatching DOID:6947 sphenoidal sinus benign neoplasm oboInOwl:hasDbXref NCI:C6792 semapv:UnspecifiedMatching -DOID:6947 sphenoidal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345676 semapv:UnspecifiedMatching +DOID:6947 sphenoidal sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0345676 semapv:UnspecifiedMatching DOID:6948 malignant gastric teratoma oboInOwl:hasDbXref NCI:C5256 semapv:UnspecifiedMatching -DOID:6948 malignant gastric teratoma oboInOwl:hasDbXref UMLS_CUI:C1334151 semapv:UnspecifiedMatching +DOID:6948 malignant gastric teratoma oboInOwl:hasDbXref UMLS:C1334151 semapv:UnspecifiedMatching DOID:6950 combat disorder oboInOwl:hasDbXref MESH:D003130 semapv:UnspecifiedMatching -DOID:6950 combat disorder oboInOwl:hasDbXref UMLS_CUI:C0009426 semapv:UnspecifiedMatching +DOID:6950 combat disorder oboInOwl:hasDbXref UMLS:C0009426 semapv:UnspecifiedMatching DOID:6951 telangiectatic osteogenic sarcoma oboInOwl:hasDbXref NCI:C3902 semapv:UnspecifiedMatching -DOID:6951 telangiectatic osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C0259782 semapv:UnspecifiedMatching +DOID:6951 telangiectatic osteogenic sarcoma oboInOwl:hasDbXref UMLS:C0259782 semapv:UnspecifiedMatching DOID:6958 aleukemic monocytic leukemia cutis oboInOwl:hasDbXref NCI:C5630 semapv:UnspecifiedMatching -DOID:6958 aleukemic monocytic leukemia cutis oboInOwl:hasDbXref UMLS_CUI:C1332232 semapv:UnspecifiedMatching +DOID:6958 aleukemic monocytic leukemia cutis oboInOwl:hasDbXref UMLS:C1332232 semapv:UnspecifiedMatching DOID:6959 rectal cloacogenic carcinoma oboInOwl:hasDbXref NCI:C5555 semapv:UnspecifiedMatching -DOID:6959 rectal cloacogenic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333074 semapv:UnspecifiedMatching +DOID:6959 rectal cloacogenic carcinoma oboInOwl:hasDbXref UMLS:C1333074 semapv:UnspecifiedMatching DOID:6961 Bartholin's gland squamous cell carcinoma oboInOwl:hasDbXref NCI:C40293 semapv:UnspecifiedMatching -DOID:6961 Bartholin's gland squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511052 semapv:UnspecifiedMatching +DOID:6961 Bartholin's gland squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1511052 semapv:UnspecifiedMatching DOID:6969 acute canaliculitis oboInOwl:hasDbXref ICD10CM:H04.33 semapv:UnspecifiedMatching DOID:6969 acute canaliculitis oboInOwl:hasDbXref ICD9CM:375.31 semapv:UnspecifiedMatching -DOID:6969 acute canaliculitis oboInOwl:hasDbXref UMLS_CUI:C0339130 semapv:UnspecifiedMatching +DOID:6969 acute canaliculitis oboInOwl:hasDbXref UMLS:C0339130 semapv:UnspecifiedMatching DOID:6970 acute inflammation of lacrimal passage oboInOwl:hasDbXref ICD10CM:H04.3 semapv:UnspecifiedMatching DOID:6970 acute inflammation of lacrimal passage oboInOwl:hasDbXref ICD9CM:375.3 semapv:UnspecifiedMatching -DOID:6970 acute inflammation of lacrimal passage oboInOwl:hasDbXref UMLS_CUI:C0339129 semapv:UnspecifiedMatching +DOID:6970 acute inflammation of lacrimal passage oboInOwl:hasDbXref UMLS:C0339129 semapv:UnspecifiedMatching DOID:6975 bladder urothelial papillary carcinoma oboInOwl:hasDbXref NCI:C7383 semapv:UnspecifiedMatching -DOID:6975 bladder urothelial papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518882 semapv:UnspecifiedMatching +DOID:6975 bladder urothelial papillary carcinoma oboInOwl:hasDbXref UMLS:C1518882 semapv:UnspecifiedMatching DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C27202 semapv:UnspecifiedMatching -DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517579 semapv:UnspecifiedMatching +DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1517579 semapv:UnspecifiedMatching DOID:6977 pancreatic cholera oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching DOID:6977 pancreatic cholera oboInOwl:hasDbXref NCI:C3488 semapv:UnspecifiedMatching -DOID:6977 pancreatic cholera oboInOwl:hasDbXref UMLS_CUI:C0086768 semapv:UnspecifiedMatching +DOID:6977 pancreatic cholera oboInOwl:hasDbXref UMLS:C0086768 semapv:UnspecifiedMatching DOID:698 dentin sensitivity oboInOwl:hasDbXref MESH:D003807 semapv:UnspecifiedMatching DOID:698 dentin sensitivity oboInOwl:hasDbXref NCI:C50778 semapv:UnspecifiedMatching -DOID:698 dentin sensitivity oboInOwl:hasDbXref UMLS_CUI:C0011432 semapv:UnspecifiedMatching +DOID:698 dentin sensitivity oboInOwl:hasDbXref UMLS:C0011432 semapv:UnspecifiedMatching DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref NCI:C27473 semapv:UnspecifiedMatching -DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333306 semapv:UnspecifiedMatching +DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref UMLS:C1333306 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref MESH:D017240 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref NCI:C101328 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref OMIM:251900 semapv:UnspecifiedMatching -DOID:699 mitochondrial myopathy oboInOwl:hasDbXref UMLS_CUI:C0162670 semapv:UnspecifiedMatching +DOID:699 mitochondrial myopathy oboInOwl:hasDbXref UMLS:C0162670 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy skos:exactMatch OMIM:251900 semapv:UnspecifiedMatching DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref NCI:C7989 semapv:UnspecifiedMatching -DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref UMLS_CUI:C0279693 semapv:UnspecifiedMatching +DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref UMLS:C0279693 semapv:UnspecifiedMatching DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref NCI:C6101 semapv:UnspecifiedMatching -DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1334210 semapv:UnspecifiedMatching +DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref UMLS:C1334210 semapv:UnspecifiedMatching DOID:6994 malignant iris melanoma oboInOwl:hasDbXref NCI:C9088 semapv:UnspecifiedMatching -DOID:6994 malignant iris melanoma oboInOwl:hasDbXref UMLS_CUI:C0346373 semapv:UnspecifiedMatching +DOID:6994 malignant iris melanoma oboInOwl:hasDbXref UMLS:C0346373 semapv:UnspecifiedMatching DOID:6996 intermediate cell type choroid melanoma oboInOwl:hasDbXref NCI:C6100 semapv:UnspecifiedMatching -DOID:6996 intermediate cell type choroid melanoma oboInOwl:hasDbXref UMLS_CUI:C1334208 semapv:UnspecifiedMatching +DOID:6996 intermediate cell type choroid melanoma oboInOwl:hasDbXref UMLS:C1334208 semapv:UnspecifiedMatching DOID:6997 intermediate cell type ciliary body melanoma oboInOwl:hasDbXref NCI:C6118 semapv:UnspecifiedMatching -DOID:6997 intermediate cell type ciliary body melanoma oboInOwl:hasDbXref UMLS_CUI:C1334209 semapv:UnspecifiedMatching +DOID:6997 intermediate cell type ciliary body melanoma oboInOwl:hasDbXref UMLS:C1334209 semapv:UnspecifiedMatching DOID:6998 gallbladder mucinous carcinoma oboInOwl:hasDbXref NCI:C5744 semapv:UnspecifiedMatching -DOID:6998 gallbladder mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333750 semapv:UnspecifiedMatching +DOID:6998 gallbladder mucinous carcinoma oboInOwl:hasDbXref UMLS:C1333750 semapv:UnspecifiedMatching DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref GARD:7048 semapv:UnspecifiedMatching DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref MESH:D028361 semapv:UnspecifiedMatching -DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0751651 semapv:UnspecifiedMatching +DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref UMLS:C0751651 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref GARD:12867 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref MESH:D049913 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref NCI:C7462 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref OMIM:219090 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C1306214 semapv:UnspecifiedMatching +DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C1306214 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma skos:exactMatch MESH:D049913 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma skos:exactMatch OMIM:219090 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref ICDO:9411/3 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref NCI:C4321 semapv:UnspecifiedMatching -DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334581 semapv:UnspecifiedMatching +DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334581 semapv:UnspecifiedMatching DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref NCI:C4347 semapv:UnspecifiedMatching -DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0338070 semapv:UnspecifiedMatching +DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref UMLS:C0338070 semapv:UnspecifiedMatching DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref ICDO:9410/3 semapv:UnspecifiedMatching DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref NCI:C4320 semapv:UnspecifiedMatching -DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334580 semapv:UnspecifiedMatching +DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref UMLS:C0334580 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref MESH:D003805 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref ORDO:1635 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref UMLS_CUI:C0011430 semapv:UnspecifiedMatching +DOID:701 dentin dysplasia oboInOwl:hasDbXref UMLS:C0011430 semapv:UnspecifiedMatching DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref NCI:C40041 semapv:UnspecifiedMatching -DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518725 semapv:UnspecifiedMatching +DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref UMLS:C1518725 semapv:UnspecifiedMatching DOID:7014 infiltrating lipoma oboInOwl:hasDbXref NCI:C7450 semapv:UnspecifiedMatching -DOID:7014 infiltrating lipoma oboInOwl:hasDbXref UMLS_CUI:C0334473 semapv:UnspecifiedMatching +DOID:7014 infiltrating lipoma oboInOwl:hasDbXref UMLS:C0334473 semapv:UnspecifiedMatching DOID:7016 tendon sheath lipoma oboInOwl:hasDbXref NCI:C6499 semapv:UnspecifiedMatching -DOID:7016 tendon sheath lipoma oboInOwl:hasDbXref UMLS_CUI:C1336703 semapv:UnspecifiedMatching +DOID:7016 tendon sheath lipoma oboInOwl:hasDbXref UMLS:C1336703 semapv:UnspecifiedMatching DOID:7017 lumbosacral lipoma oboInOwl:hasDbXref NCI:C6500 semapv:UnspecifiedMatching -DOID:7017 lumbosacral lipoma oboInOwl:hasDbXref UMLS_CUI:C1334438 semapv:UnspecifiedMatching +DOID:7017 lumbosacral lipoma oboInOwl:hasDbXref UMLS:C1334438 semapv:UnspecifiedMatching DOID:7024 mucinous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C41618 semapv:UnspecifiedMatching -DOID:7024 mucinous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1513718 semapv:UnspecifiedMatching +DOID:7024 mucinous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS:C1513718 semapv:UnspecifiedMatching DOID:7030 bronchial mucus gland adenoma oboInOwl:hasDbXref NCI:C5664 semapv:UnspecifiedMatching -DOID:7030 bronchial mucus gland adenoma oboInOwl:hasDbXref UMLS_CUI:C1332640 semapv:UnspecifiedMatching +DOID:7030 bronchial mucus gland adenoma oboInOwl:hasDbXref UMLS:C1332640 semapv:UnspecifiedMatching DOID:7031 glottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C8186 semapv:UnspecifiedMatching -DOID:7031 glottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280325 semapv:UnspecifiedMatching +DOID:7031 glottis squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0280325 semapv:UnspecifiedMatching DOID:7032 bile duct clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C5775 semapv:UnspecifiedMatching -DOID:7032 bile duct clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0861855 semapv:UnspecifiedMatching +DOID:7032 bile duct clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C0861855 semapv:UnspecifiedMatching DOID:7033 anisakiasis oboInOwl:hasDbXref GARD:693 semapv:UnspecifiedMatching DOID:7033 anisakiasis oboInOwl:hasDbXref ICD10CM:B81.0 semapv:UnspecifiedMatching DOID:7033 anisakiasis oboInOwl:hasDbXref ICD9CM:127.1 semapv:UnspecifiedMatching DOID:7033 anisakiasis oboInOwl:hasDbXref MESH:D017129 semapv:UnspecifiedMatching DOID:7033 anisakiasis oboInOwl:hasDbXref NCI:C128393 semapv:UnspecifiedMatching -DOID:7033 anisakiasis oboInOwl:hasDbXref UMLS_CUI:C0162576 semapv:UnspecifiedMatching +DOID:7033 anisakiasis oboInOwl:hasDbXref UMLS:C0162576 semapv:UnspecifiedMatching DOID:7033 anisakiasis skos:exactMatch MESH:D017129 semapv:UnspecifiedMatching DOID:7037 childhood immature teratoma of ovary oboInOwl:hasDbXref NCI:C6547 semapv:UnspecifiedMatching -DOID:7037 childhood immature teratoma of ovary oboInOwl:hasDbXref UMLS_CUI:C1332990 semapv:UnspecifiedMatching -DOID:7039 Borst-Jadassohn intraepidermal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334260 semapv:UnspecifiedMatching +DOID:7037 childhood immature teratoma of ovary oboInOwl:hasDbXref UMLS:C1332990 semapv:UnspecifiedMatching +DOID:7039 Borst-Jadassohn intraepidermal carcinoma oboInOwl:hasDbXref UMLS:C0334260 semapv:UnspecifiedMatching DOID:7040 uveal epithelioid cell melanoma oboInOwl:hasDbXref NCI:C35780 semapv:UnspecifiedMatching -DOID:7040 uveal epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333422 semapv:UnspecifiedMatching +DOID:7040 uveal epithelioid cell melanoma oboInOwl:hasDbXref UMLS:C1333422 semapv:UnspecifiedMatching DOID:7041 choroid epithelioid cell melanoma oboInOwl:hasDbXref NCI:C6102 semapv:UnspecifiedMatching -DOID:7041 choroid epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333024 semapv:UnspecifiedMatching +DOID:7041 choroid epithelioid cell melanoma oboInOwl:hasDbXref UMLS:C1333024 semapv:UnspecifiedMatching DOID:7042 ciliary body epithelioid cell melanoma oboInOwl:hasDbXref NCI:C6119 semapv:UnspecifiedMatching -DOID:7042 ciliary body epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333050 semapv:UnspecifiedMatching +DOID:7042 ciliary body epithelioid cell melanoma oboInOwl:hasDbXref UMLS:C1333050 semapv:UnspecifiedMatching DOID:7045 basaloid lung carcinoma oboInOwl:hasDbXref NCI:C7266 semapv:UnspecifiedMatching -DOID:7045 basaloid lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332463 semapv:UnspecifiedMatching +DOID:7045 basaloid lung carcinoma oboInOwl:hasDbXref UMLS:C1332463 semapv:UnspecifiedMatching DOID:7046 cervical basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C40189 semapv:UnspecifiedMatching -DOID:7046 cervical basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511063 semapv:UnspecifiedMatching +DOID:7046 cervical basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1511063 semapv:UnspecifiedMatching DOID:7047 penis basaloid carcinoma oboInOwl:hasDbXref NCI:C6980 semapv:UnspecifiedMatching -DOID:7047 penis basaloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332462 semapv:UnspecifiedMatching +DOID:7047 penis basaloid carcinoma oboInOwl:hasDbXref UMLS:C1332462 semapv:UnspecifiedMatching DOID:7048 vulvar basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C40286 semapv:UnspecifiedMatching DOID:7049 basaloid squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C27543 semapv:UnspecifiedMatching -DOID:7049 basaloid squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335973 semapv:UnspecifiedMatching +DOID:7049 basaloid squamous cell skin carcinoma oboInOwl:hasDbXref UMLS:C1335973 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref GARD:6870 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.22 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref MESH:D029242 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref NCI:C84808 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0917796 semapv:UnspecifiedMatching +DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C0917796 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy skos:exactMatch OMIM:535000 semapv:UnspecifiedMatching DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref NCI:C6456 semapv:UnspecifiedMatching -DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332464 semapv:UnspecifiedMatching +DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref UMLS:C1332464 semapv:UnspecifiedMatching DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C7032 semapv:UnspecifiedMatching -DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333443 semapv:UnspecifiedMatching +DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333443 semapv:UnspecifiedMatching DOID:7054 multiple skull base meningioma oboInOwl:hasDbXref NCI:C5279 semapv:UnspecifiedMatching -DOID:7054 multiple skull base meningioma oboInOwl:hasDbXref UMLS_CUI:C1334829 semapv:UnspecifiedMatching +DOID:7054 multiple skull base meningioma oboInOwl:hasDbXref UMLS:C1334829 semapv:UnspecifiedMatching DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref EFO:0000096 semapv:UnspecifiedMatching DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref NCI:C27910 semapv:UnspecifiedMatching -DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334633 semapv:UnspecifiedMatching +DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref UMLS:C1334633 semapv:UnspecifiedMatching DOID:707 B-cell lymphoma oboInOwl:hasDbXref GARD:5877 semapv:UnspecifiedMatching DOID:707 B-cell lymphoma oboInOwl:hasDbXref MESH:D016393 semapv:UnspecifiedMatching DOID:707 B-cell lymphoma oboInOwl:hasDbXref NCI:C3457 semapv:UnspecifiedMatching -DOID:707 B-cell lymphoma oboInOwl:hasDbXref UMLS_CUI:C0079731 semapv:UnspecifiedMatching +DOID:707 B-cell lymphoma oboInOwl:hasDbXref UMLS:C0079731 semapv:UnspecifiedMatching DOID:7071 spinal cord dermoid cyst oboInOwl:hasDbXref NCI:C6808 semapv:UnspecifiedMatching -DOID:7071 spinal cord dermoid cyst oboInOwl:hasDbXref UMLS_CUI:C1333278 semapv:UnspecifiedMatching +DOID:7071 spinal cord dermoid cyst oboInOwl:hasDbXref UMLS:C1333278 semapv:UnspecifiedMatching DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref ICDO:8314/3 semapv:UnspecifiedMatching DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref NCI:C40365 semapv:UnspecifiedMatching -DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517894 semapv:UnspecifiedMatching +DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref UMLS:C1517894 semapv:UnspecifiedMatching DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum oboInOwl:hasDbXref NCI:C6630 semapv:UnspecifiedMatching -DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum oboInOwl:hasDbXref UMLS_CUI:C1334600 semapv:UnspecifiedMatching +DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum oboInOwl:hasDbXref UMLS:C1334600 semapv:UnspecifiedMatching DOID:7079 adult cystic teratoma oboInOwl:hasDbXref NCI:C9012 semapv:UnspecifiedMatching -DOID:7079 adult cystic teratoma oboInOwl:hasDbXref UMLS_CUI:C1368888 semapv:UnspecifiedMatching +DOID:7079 adult cystic teratoma oboInOwl:hasDbXref UMLS:C1368888 semapv:UnspecifiedMatching DOID:7081 lung mixed small cell and squamous cell carcinoma oboInOwl:hasDbXref NCI:C9423 semapv:UnspecifiedMatching -DOID:7081 lung mixed small cell and squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334788 semapv:UnspecifiedMatching +DOID:7081 lung mixed small cell and squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1334788 semapv:UnspecifiedMatching DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C37304 semapv:UnspecifiedMatching -DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334817 semapv:UnspecifiedMatching +DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1334817 semapv:UnspecifiedMatching DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref NCI:C35830 semapv:UnspecifiedMatching -DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333120 semapv:UnspecifiedMatching +DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref UMLS:C1333120 semapv:UnspecifiedMatching DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref NCI:C35558 semapv:UnspecifiedMatching -DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336695 semapv:UnspecifiedMatching +DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref UMLS:C1336695 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref ICD9CM:202.47 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref NCI:C7301 semapv:UnspecifiedMatching -DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0153832 semapv:UnspecifiedMatching -DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C1336064 semapv:UnspecifiedMatching +DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS:C0153832 semapv:UnspecifiedMatching +DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS:C1336064 semapv:UnspecifiedMatching DOID:7095 childhood epithelioid sarcoma oboInOwl:hasDbXref NCI:C8095 semapv:UnspecifiedMatching -DOID:7095 childhood epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279989 semapv:UnspecifiedMatching +DOID:7095 childhood epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0279989 semapv:UnspecifiedMatching DOID:7097 macrocystic pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39924 semapv:UnspecifiedMatching -DOID:7097 macrocystic pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515307 semapv:UnspecifiedMatching +DOID:7097 macrocystic pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515307 semapv:UnspecifiedMatching DOID:710 splenic manifestation of leukemia oboInOwl:hasDbXref NCI:C7296 semapv:UnspecifiedMatching -DOID:710 splenic manifestation of leukemia oboInOwl:hasDbXref UMLS_CUI:C1336065 semapv:UnspecifiedMatching +DOID:710 splenic manifestation of leukemia oboInOwl:hasDbXref UMLS:C1336065 semapv:UnspecifiedMatching DOID:7103 diaphragma sellae meningioma oboInOwl:hasDbXref NCI:C5283 semapv:UnspecifiedMatching -DOID:7103 diaphragma sellae meningioma oboInOwl:hasDbXref UMLS_CUI:C1333283 semapv:UnspecifiedMatching +DOID:7103 diaphragma sellae meningioma oboInOwl:hasDbXref UMLS:C1333283 semapv:UnspecifiedMatching DOID:7105 epiglottis neoplasm oboInOwl:hasDbXref NCI:C4933 semapv:UnspecifiedMatching -DOID:7105 epiglottis neoplasm oboInOwl:hasDbXref UMLS_CUI:C1290353 semapv:UnspecifiedMatching +DOID:7105 epiglottis neoplasm oboInOwl:hasDbXref UMLS:C1290353 semapv:UnspecifiedMatching DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref ICD10CM:C91.42 semapv:UnspecifiedMatching DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref NCI:C142882 semapv:UnspecifiedMatching -DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0279780 semapv:UnspecifiedMatching +DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref UMLS:C0279780 semapv:UnspecifiedMatching DOID:712 refractory hematologic cancer oboInOwl:hasDbXref NCI:C27357 semapv:UnspecifiedMatching -DOID:712 refractory hematologic cancer oboInOwl:hasDbXref UMLS_CUI:C1335724 semapv:UnspecifiedMatching +DOID:712 refractory hematologic cancer oboInOwl:hasDbXref UMLS:C1335724 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref ICD10CM:N30.4 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref ICD9CM:595.82 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref NCI:C123174 semapv:UnspecifiedMatching -DOID:7127 radiation cystitis oboInOwl:hasDbXref UMLS_CUI:C0156270 semapv:UnspecifiedMatching +DOID:7127 radiation cystitis oboInOwl:hasDbXref UMLS:C0156270 semapv:UnspecifiedMatching DOID:713 HCL-V oboInOwl:hasDbXref NCI:C7401 semapv:UnspecifiedMatching -DOID:713 HCL-V oboInOwl:hasDbXref UMLS_CUI:C0349633 semapv:UnspecifiedMatching +DOID:713 HCL-V oboInOwl:hasDbXref UMLS:C0349633 semapv:UnspecifiedMatching DOID:7132 urinary bladder small cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C9461 semapv:UnspecifiedMatching -DOID:7132 urinary bladder small cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332564 semapv:UnspecifiedMatching +DOID:7132 urinary bladder small cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1332564 semapv:UnspecifiedMatching DOID:7133 gallbladder small cell carcinoma oboInOwl:hasDbXref NCI:C6763 semapv:UnspecifiedMatching -DOID:7133 gallbladder small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333759 semapv:UnspecifiedMatching +DOID:7133 gallbladder small cell carcinoma oboInOwl:hasDbXref UMLS:C1333759 semapv:UnspecifiedMatching DOID:7134 esophagus small cell carcinoma oboInOwl:hasDbXref NCI:C6762 semapv:UnspecifiedMatching -DOID:7134 esophagus small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1112474 semapv:UnspecifiedMatching +DOID:7134 esophagus small cell carcinoma oboInOwl:hasDbXref UMLS:C1112474 semapv:UnspecifiedMatching DOID:7136 ampulla of Vater small cell carcinoma oboInOwl:hasDbXref NCI:C6655 semapv:UnspecifiedMatching -DOID:7136 ampulla of Vater small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332250 semapv:UnspecifiedMatching +DOID:7136 ampulla of Vater small cell carcinoma oboInOwl:hasDbXref UMLS:C1332250 semapv:UnspecifiedMatching DOID:7138 cystitis cystica oboInOwl:hasDbXref ICD9CM:595.81 semapv:UnspecifiedMatching DOID:7138 cystitis cystica oboInOwl:hasDbXref NCI:C96230 semapv:UnspecifiedMatching -DOID:7138 cystitis cystica oboInOwl:hasDbXref UMLS_CUI:C0152262 semapv:UnspecifiedMatching +DOID:7138 cystitis cystica oboInOwl:hasDbXref UMLS:C0152262 semapv:UnspecifiedMatching DOID:7139 endometrial small cell carcinoma oboInOwl:hasDbXref NCI:C40155 semapv:UnspecifiedMatching -DOID:7139 endometrial small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516858 semapv:UnspecifiedMatching +DOID:7139 endometrial small cell carcinoma oboInOwl:hasDbXref UMLS:C1516858 semapv:UnspecifiedMatching DOID:7140 Bartholin's gland small cell carcinoma oboInOwl:hasDbXref NCI:C40298 semapv:UnspecifiedMatching -DOID:7140 Bartholin's gland small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511051 semapv:UnspecifiedMatching -DOID:7141 prostate small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1300585 semapv:UnspecifiedMatching +DOID:7140 Bartholin's gland small cell carcinoma oboInOwl:hasDbXref UMLS:C1511051 semapv:UnspecifiedMatching +DOID:7141 prostate small cell carcinoma oboInOwl:hasDbXref UMLS:C1300585 semapv:UnspecifiedMatching DOID:7142 thymus small cell carcinoma oboInOwl:hasDbXref NCI:C6460 semapv:UnspecifiedMatching -DOID:7142 thymus small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335980 semapv:UnspecifiedMatching +DOID:7142 thymus small cell carcinoma oboInOwl:hasDbXref UMLS:C1335980 semapv:UnspecifiedMatching DOID:7144 laryngeal small cell carcinoma oboInOwl:hasDbXref NCI:C6025 semapv:UnspecifiedMatching -DOID:7144 laryngeal small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334378 semapv:UnspecifiedMatching +DOID:7144 laryngeal small cell carcinoma oboInOwl:hasDbXref UMLS:C1334378 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref GARD:10491 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ICDO:9756/3 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref NCI:C6921 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ORDO:86897 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260327 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS:C1260327 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma skos:exactMatch MESH:D054752 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref EFO:0003898 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref GARD:9518 semapv:UnspecifiedMatching @@ -33926,7 +34239,7 @@ DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref MESH:D013167 semapv:Unspecif DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref NCI:C84564 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref OMIMPS:106300 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ORDO:825 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref UMLS_CUI:C0038013 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref UMLS:C0038013 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis skos:exactMatch OMIMPS:106300 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref EFO:0000685 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD10CM:M06.9 semapv:UnspecifiedMatching @@ -33935,551 +34248,551 @@ DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref KEGG:05323 semapv:UnspecifiedM DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref MESH:D001172 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref NCI:C2884 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref OMIM:180300 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0003873 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0003873 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis skos:exactMatch OMIM:180300 semapv:UnspecifiedMatching DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref NCI:C5524 semapv:UnspecifiedMatching -DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335521 semapv:UnspecifiedMatching +DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref UMLS:C1335521 semapv:UnspecifiedMatching DOID:7154 anaplastic oligodendroglioma oboInOwl:hasDbXref NCI:C4326 semapv:UnspecifiedMatching DOID:7160 rectal leiomyoma oboInOwl:hasDbXref NCI:C5552 semapv:UnspecifiedMatching -DOID:7160 rectal leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335682 semapv:UnspecifiedMatching +DOID:7160 rectal leiomyoma oboInOwl:hasDbXref UMLS:C1335682 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref ICD10CM:E06.1 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref ICD9CM:245.1 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref MESH:D013968 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref NCI:C35071 semapv:UnspecifiedMatching -DOID:7165 subacute thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040149 semapv:UnspecifiedMatching +DOID:7165 subacute thyroiditis oboInOwl:hasDbXref UMLS:C0040149 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref ICD10CM:E06 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref ICD9CM:245 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref MESH:D013966 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref NCI:C26894 semapv:UnspecifiedMatching -DOID:7166 thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040147 semapv:UnspecifiedMatching +DOID:7166 thyroiditis oboInOwl:hasDbXref UMLS:C0040147 semapv:UnspecifiedMatching DOID:7168 lung occult adenocarcinoma oboInOwl:hasDbXref NCI:C6699 semapv:UnspecifiedMatching -DOID:7168 lung occult adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335096 semapv:UnspecifiedMatching +DOID:7168 lung occult adenocarcinoma oboInOwl:hasDbXref UMLS:C1335096 semapv:UnspecifiedMatching DOID:7169 lung occult large cell carcinoma oboInOwl:hasDbXref NCI:C6685 semapv:UnspecifiedMatching -DOID:7169 lung occult large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335095 semapv:UnspecifiedMatching +DOID:7169 lung occult large cell carcinoma oboInOwl:hasDbXref UMLS:C1335095 semapv:UnspecifiedMatching DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref ICDO:8124/3 semapv:UnspecifiedMatching DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref NCI:C8255 semapv:UnspecifiedMatching -DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334273 semapv:UnspecifiedMatching +DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref UMLS:C0334273 semapv:UnspecifiedMatching DOID:7174 anus basaloid carcinoma oboInOwl:hasDbXref NCI:C8256 semapv:UnspecifiedMatching -DOID:7174 anus basaloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280470 semapv:UnspecifiedMatching +DOID:7174 anus basaloid carcinoma oboInOwl:hasDbXref UMLS:C0280470 semapv:UnspecifiedMatching DOID:7175 anal Buschke-Lowenstein tumor oboInOwl:hasDbXref NCI:C7470 semapv:UnspecifiedMatching -DOID:7175 anal Buschke-Lowenstein tumor oboInOwl:hasDbXref UMLS_CUI:C1332278 semapv:UnspecifiedMatching +DOID:7175 anal Buschke-Lowenstein tumor oboInOwl:hasDbXref UMLS:C1332278 semapv:UnspecifiedMatching DOID:7177 anal canal squamous cell carcinoma oboInOwl:hasDbXref NCI:C7469 semapv:UnspecifiedMatching -DOID:7177 anal canal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332262 semapv:UnspecifiedMatching +DOID:7177 anal canal squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1332262 semapv:UnspecifiedMatching DOID:7179 mixed eosinophil-basophil adenoma oboInOwl:hasDbXref NCI:C4148 semapv:UnspecifiedMatching -DOID:7179 mixed eosinophil-basophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0334312 semapv:UnspecifiedMatching +DOID:7179 mixed eosinophil-basophil adenoma oboInOwl:hasDbXref UMLS:C0334312 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref GARD:5870 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref ICD9CM:283.0 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref NCI:C34378 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref OMIM:205700 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002880 semapv:UnspecifiedMatching +DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0002880 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia skos:exactMatch OMIM:205700 semapv:UnspecifiedMatching DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref NCI:C5569 semapv:UnspecifiedMatching -DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1332490 semapv:UnspecifiedMatching +DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref UMLS:C1332490 semapv:UnspecifiedMatching DOID:7187 subacute lymphocytic thyroiditis oboInOwl:hasDbXref NCI:C35829 semapv:UnspecifiedMatching -DOID:7187 subacute lymphocytic thyroiditis oboInOwl:hasDbXref UMLS_CUI:C1306804 semapv:UnspecifiedMatching +DOID:7187 subacute lymphocytic thyroiditis oboInOwl:hasDbXref UMLS:C1306804 semapv:UnspecifiedMatching DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref ICD10CM:E06.3 semapv:UnspecifiedMatching DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref MESH:D013967 semapv:UnspecifiedMatching DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref NCI:C38766 semapv:UnspecifiedMatching -DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0920350 semapv:UnspecifiedMatching +DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref UMLS:C0920350 semapv:UnspecifiedMatching DOID:7191 ovarian endometrioid cystadenoma oboInOwl:hasDbXref NCI:C40075 semapv:UnspecifiedMatching -DOID:7191 ovarian endometrioid cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1518713 semapv:UnspecifiedMatching +DOID:7191 ovarian endometrioid cystadenoma oboInOwl:hasDbXref UMLS:C1518713 semapv:UnspecifiedMatching DOID:7192 hereditary conventional renal cell carcinoma oboInOwl:hasDbXref NCI:C36260 semapv:UnspecifiedMatching -DOID:7192 hereditary conventional renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333985 semapv:UnspecifiedMatching +DOID:7192 hereditary conventional renal cell carcinoma oboInOwl:hasDbXref UMLS:C1333985 semapv:UnspecifiedMatching DOID:7198 maxillary sinus adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6239 semapv:UnspecifiedMatching -DOID:7198 maxillary sinus adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334643 semapv:UnspecifiedMatching +DOID:7198 maxillary sinus adenoid cystic carcinoma oboInOwl:hasDbXref UMLS:C1334643 semapv:UnspecifiedMatching DOID:720 normocytic anemia oboInOwl:hasDbXref NCI:C35142 semapv:UnspecifiedMatching -DOID:720 normocytic anemia oboInOwl:hasDbXref UMLS_CUI:C0085577 semapv:UnspecifiedMatching +DOID:720 normocytic anemia oboInOwl:hasDbXref UMLS:C0085577 semapv:UnspecifiedMatching DOID:7202 intermediate malignant teratoma oboInOwl:hasDbXref NCI:C4288 semapv:UnspecifiedMatching -DOID:7202 intermediate malignant teratoma oboInOwl:hasDbXref UMLS_CUI:C0334522 semapv:UnspecifiedMatching +DOID:7202 intermediate malignant teratoma oboInOwl:hasDbXref UMLS:C0334522 semapv:UnspecifiedMatching DOID:7206 melanomatosis oboInOwl:hasDbXref NCI:C9499 semapv:UnspecifiedMatching -DOID:7206 melanomatosis oboInOwl:hasDbXref UMLS_CUI:C1334691 semapv:UnspecifiedMatching +DOID:7206 melanomatosis oboInOwl:hasDbXref UMLS:C1334691 semapv:UnspecifiedMatching DOID:7207 lung combined large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C7267 semapv:UnspecifiedMatching -DOID:7207 lung combined large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333122 semapv:UnspecifiedMatching +DOID:7207 lung combined large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C1333122 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref ICDO:9533/0 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref NCI:C4331 semapv:UnspecifiedMatching -DOID:7210 psammomatous meningioma oboInOwl:hasDbXref UMLS_CUI:C0334607 semapv:UnspecifiedMatching +DOID:7210 psammomatous meningioma oboInOwl:hasDbXref UMLS:C0334607 semapv:UnspecifiedMatching DOID:7211 fibrous meningioma oboInOwl:hasDbXref ICDO:9532/0 semapv:UnspecifiedMatching DOID:7211 fibrous meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7211 fibrous meningioma oboInOwl:hasDbXref NCI:C4330 semapv:UnspecifiedMatching -DOID:7211 fibrous meningioma oboInOwl:hasDbXref UMLS_CUI:C0334606 semapv:UnspecifiedMatching +DOID:7211 fibrous meningioma oboInOwl:hasDbXref UMLS:C0334606 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref ICDO:9531/0 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref NCI:C4329 semapv:UnspecifiedMatching -DOID:7212 meningothelial meningioma oboInOwl:hasDbXref UMLS_CUI:C0334605 semapv:UnspecifiedMatching +DOID:7212 meningothelial meningioma oboInOwl:hasDbXref UMLS:C0334605 semapv:UnspecifiedMatching DOID:7213 transitional meningioma oboInOwl:hasDbXref ICDO:9537/0 semapv:UnspecifiedMatching DOID:7213 transitional meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7213 transitional meningioma oboInOwl:hasDbXref NCI:C4333 semapv:UnspecifiedMatching -DOID:7213 transitional meningioma oboInOwl:hasDbXref UMLS_CUI:C0334611 semapv:UnspecifiedMatching +DOID:7213 transitional meningioma oboInOwl:hasDbXref UMLS:C0334611 semapv:UnspecifiedMatching DOID:7214 noninvasive malignant thymoma oboInOwl:hasDbXref NCI:C9080 semapv:UnspecifiedMatching -DOID:7214 noninvasive malignant thymoma oboInOwl:hasDbXref UMLS_CUI:C0278847 semapv:UnspecifiedMatching +DOID:7214 noninvasive malignant thymoma oboInOwl:hasDbXref UMLS:C0278847 semapv:UnspecifiedMatching DOID:7221 gallbladder papillary carcinoma oboInOwl:hasDbXref NCI:C5743 semapv:UnspecifiedMatching -DOID:7221 gallbladder papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C5399921 semapv:UnspecifiedMatching +DOID:7221 gallbladder papillary carcinoma oboInOwl:hasDbXref UMLS:C5399921 semapv:UnspecifiedMatching DOID:7223 breast giant fibroadenoma oboInOwl:hasDbXref NCI:C4273 semapv:UnspecifiedMatching -DOID:7223 breast giant fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0346157 semapv:UnspecifiedMatching +DOID:7223 breast giant fibroadenoma oboInOwl:hasDbXref UMLS:C0346157 semapv:UnspecifiedMatching DOID:7224 spinal meninges cancer oboInOwl:hasDbXref ICD10CM:C70.1 semapv:UnspecifiedMatching DOID:7224 spinal meninges cancer oboInOwl:hasDbXref ICD9CM:192.3 semapv:UnspecifiedMatching -DOID:7224 spinal meninges cancer oboInOwl:hasDbXref UMLS_CUI:C0153647 semapv:UnspecifiedMatching +DOID:7224 spinal meninges cancer oboInOwl:hasDbXref UMLS:C0153647 semapv:UnspecifiedMatching DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref NCI:C37201 semapv:UnspecifiedMatching -DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333037 semapv:UnspecifiedMatching +DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS:C1333037 semapv:UnspecifiedMatching DOID:7231 childhood CNS embryonal cell carcinoma oboInOwl:hasDbXref NCI:C6208 semapv:UnspecifiedMatching -DOID:7231 childhood CNS embryonal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1377605 semapv:UnspecifiedMatching +DOID:7231 childhood CNS embryonal cell carcinoma oboInOwl:hasDbXref UMLS:C1377605 semapv:UnspecifiedMatching DOID:7232 central nervous system embryonal carcinoma oboInOwl:hasDbXref NCI:C7010 semapv:UnspecifiedMatching -DOID:7232 central nervous system embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333377 semapv:UnspecifiedMatching +DOID:7232 central nervous system embryonal carcinoma oboInOwl:hasDbXref UMLS:C1333377 semapv:UnspecifiedMatching DOID:7233 adult central nervous system embryonal carcinoma oboInOwl:hasDbXref NCI:C5790 semapv:UnspecifiedMatching -DOID:7233 adult central nervous system embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1370503 semapv:UnspecifiedMatching +DOID:7233 adult central nervous system embryonal carcinoma oboInOwl:hasDbXref UMLS:C1370503 semapv:UnspecifiedMatching DOID:7234 mucinous cystadenocarcinoma of pancreas oboInOwl:hasDbXref NCI:C5713 semapv:UnspecifiedMatching -DOID:7234 mucinous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS_CUI:C2063873 semapv:UnspecifiedMatching +DOID:7234 mucinous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS:C2063873 semapv:UnspecifiedMatching DOID:7235 pancreatic mucinous cystadenoma oboInOwl:hasDbXref NCI:C41247 semapv:UnspecifiedMatching -DOID:7235 pancreatic mucinous cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1518872 semapv:UnspecifiedMatching +DOID:7235 pancreatic mucinous cystadenoma oboInOwl:hasDbXref UMLS:C1518872 semapv:UnspecifiedMatching DOID:7236 pancreatic invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C41246 semapv:UnspecifiedMatching -DOID:7236 pancreatic invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518870 semapv:UnspecifiedMatching +DOID:7236 pancreatic invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1518870 semapv:UnspecifiedMatching DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C41245 semapv:UnspecifiedMatching -DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266078 semapv:UnspecifiedMatching +DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1266078 semapv:UnspecifiedMatching DOID:724 female stress incontinence oboInOwl:hasDbXref ICD9CM:625.6 semapv:UnspecifiedMatching DOID:724 female stress incontinence oboInOwl:hasDbXref NCI:C35042 semapv:UnspecifiedMatching -DOID:724 female stress incontinence oboInOwl:hasDbXref UMLS_CUI:C0038437 semapv:UnspecifiedMatching +DOID:724 female stress incontinence oboInOwl:hasDbXref UMLS:C0038437 semapv:UnspecifiedMatching DOID:7241 uterine corpus apoplectic leiomyoma oboInOwl:hasDbXref NCI:C40165 semapv:UnspecifiedMatching -DOID:7241 uterine corpus apoplectic leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519852 semapv:UnspecifiedMatching +DOID:7241 uterine corpus apoplectic leiomyoma oboInOwl:hasDbXref UMLS:C1519852 semapv:UnspecifiedMatching DOID:7242 uterine corpus cellular leiomyoma oboInOwl:hasDbXref NCI:C40163 semapv:UnspecifiedMatching -DOID:7242 uterine corpus cellular leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519845 semapv:UnspecifiedMatching +DOID:7242 uterine corpus cellular leiomyoma oboInOwl:hasDbXref UMLS:C1519845 semapv:UnspecifiedMatching DOID:7244 bladder urachal urothelial carcinoma oboInOwl:hasDbXref NCI:C39844 semapv:UnspecifiedMatching -DOID:7244 bladder urachal urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511207 semapv:UnspecifiedMatching +DOID:7244 bladder urachal urothelial carcinoma oboInOwl:hasDbXref UMLS:C1511207 semapv:UnspecifiedMatching DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma oboInOwl:hasDbXref NCI:C39885 semapv:UnspecifiedMatching -DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515864 semapv:UnspecifiedMatching +DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma oboInOwl:hasDbXref UMLS:C1515864 semapv:UnspecifiedMatching DOID:7263 selective IgD deficiency disease oboInOwl:hasDbXref NCI:C27144 semapv:UnspecifiedMatching -DOID:7263 selective IgD deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0398695 semapv:UnspecifiedMatching +DOID:7263 selective IgD deficiency disease oboInOwl:hasDbXref UMLS:C0398695 semapv:UnspecifiedMatching DOID:7266 familiar fallopian tube carcinoma oboInOwl:hasDbXref NCI:C40455 semapv:UnspecifiedMatching -DOID:7266 familiar fallopian tube carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512418 semapv:UnspecifiedMatching -DOID:7267 lung clear cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345959 semapv:UnspecifiedMatching +DOID:7266 familiar fallopian tube carcinoma oboInOwl:hasDbXref UMLS:C1512418 semapv:UnspecifiedMatching +DOID:7267 lung clear cell carcinoma oboInOwl:hasDbXref UMLS:C0345959 semapv:UnspecifiedMatching DOID:7269 cribriform variant testicular seminoma oboInOwl:hasDbXref NCI:C40957 semapv:UnspecifiedMatching -DOID:7269 cribriform variant testicular seminoma oboInOwl:hasDbXref UMLS_CUI:C1515292 semapv:UnspecifiedMatching +DOID:7269 cribriform variant testicular seminoma oboInOwl:hasDbXref UMLS:C1515292 semapv:UnspecifiedMatching DOID:727 premenstrual tension oboInOwl:hasDbXref ICD10CM:N94.3 semapv:UnspecifiedMatching DOID:727 premenstrual tension oboInOwl:hasDbXref ICD9CM:625.4 semapv:UnspecifiedMatching DOID:727 premenstrual tension oboInOwl:hasDbXref MESH:D011293 semapv:UnspecifiedMatching -DOID:727 premenstrual tension oboInOwl:hasDbXref UMLS_CUI:C0376356 semapv:UnspecifiedMatching +DOID:727 premenstrual tension oboInOwl:hasDbXref UMLS:C0376356 semapv:UnspecifiedMatching DOID:728 nodular episcleritis oboInOwl:hasDbXref ICD10CM:H15.12 semapv:UnspecifiedMatching DOID:728 nodular episcleritis oboInOwl:hasDbXref ICD9CM:379.02 semapv:UnspecifiedMatching -DOID:728 nodular episcleritis oboInOwl:hasDbXref UMLS_CUI:C0155352 semapv:UnspecifiedMatching +DOID:728 nodular episcleritis oboInOwl:hasDbXref UMLS:C0155352 semapv:UnspecifiedMatching DOID:7280 congenital epulis oboInOwl:hasDbXref MESH:D005887 semapv:UnspecifiedMatching DOID:7280 congenital epulis oboInOwl:hasDbXref NCI:C4675 semapv:UnspecifiedMatching -DOID:7280 congenital epulis oboInOwl:hasDbXref UMLS_CUI:C0376319 semapv:UnspecifiedMatching +DOID:7280 congenital epulis oboInOwl:hasDbXref UMLS:C0376319 semapv:UnspecifiedMatching DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref NCI:C39863 semapv:UnspecifiedMatching DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref NCI:C7371 semapv:UnspecifiedMatching -DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335352 semapv:UnspecifiedMatching -DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1527427 semapv:UnspecifiedMatching +DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS:C1335352 semapv:UnspecifiedMatching +DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS:C1527427 semapv:UnspecifiedMatching DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant oboInOwl:hasDbXref NCI:C27839 semapv:UnspecifiedMatching -DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant oboInOwl:hasDbXref UMLS_CUI:C1266057 semapv:UnspecifiedMatching +DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant oboInOwl:hasDbXref UMLS:C1266057 semapv:UnspecifiedMatching DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C8717 semapv:UnspecifiedMatching -DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1513711 semapv:UnspecifiedMatching +DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1513711 semapv:UnspecifiedMatching DOID:7297 childhood extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C27376 semapv:UnspecifiedMatching -DOID:7297 childhood extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332968 semapv:UnspecifiedMatching +DOID:7297 childhood extraosseous osteosarcoma oboInOwl:hasDbXref UMLS:C1332968 semapv:UnspecifiedMatching DOID:730 urethral benign neoplasm oboInOwl:hasDbXref MESH:D014523 semapv:UnspecifiedMatching DOID:730 urethral benign neoplasm oboInOwl:hasDbXref NCI:C3428 semapv:UnspecifiedMatching -DOID:730 urethral benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041971 semapv:UnspecifiedMatching +DOID:730 urethral benign neoplasm oboInOwl:hasDbXref UMLS:C0041971 semapv:UnspecifiedMatching DOID:7302 endodermal sinus pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39927 semapv:UnspecifiedMatching -DOID:7302 endodermal sinus pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515303 semapv:UnspecifiedMatching +DOID:7302 endodermal sinus pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515303 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref GARD:10635 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref ICDO:9430/3 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref MESH:D018302 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref NCI:C4324 semapv:UnspecifiedMatching -DOID:7305 astroblastoma oboInOwl:hasDbXref UMLS_CUI:C0334587 semapv:UnspecifiedMatching +DOID:7305 astroblastoma oboInOwl:hasDbXref UMLS:C0334587 semapv:UnspecifiedMatching DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref MESH:D014571 semapv:UnspecifiedMatching DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref NCI:C3431 semapv:UnspecifiedMatching -DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0042076 semapv:UnspecifiedMatching +DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref UMLS:C0042076 semapv:UnspecifiedMatching DOID:7312 breast adenomyoepithelial adenosis oboInOwl:hasDbXref NCI:C40391 semapv:UnspecifiedMatching -DOID:7312 breast adenomyoepithelial adenosis oboInOwl:hasDbXref UMLS_CUI:C1511283 semapv:UnspecifiedMatching +DOID:7312 breast adenomyoepithelial adenosis oboInOwl:hasDbXref UMLS:C1511283 semapv:UnspecifiedMatching DOID:7315 Jewett-Marshall bladder cancer oboInOwl:hasDbXref NCI:C9368 semapv:UnspecifiedMatching -DOID:7315 Jewett-Marshall bladder cancer oboInOwl:hasDbXref UMLS_CUI:C1336362 semapv:UnspecifiedMatching +DOID:7315 Jewett-Marshall bladder cancer oboInOwl:hasDbXref UMLS:C1336362 semapv:UnspecifiedMatching DOID:7319 axonal neuropathy oboInOwl:hasDbXref NCI:C27301 semapv:UnspecifiedMatching -DOID:7319 axonal neuropathy oboInOwl:hasDbXref UMLS_CUI:C0270921 semapv:UnspecifiedMatching +DOID:7319 axonal neuropathy oboInOwl:hasDbXref UMLS:C0270921 semapv:UnspecifiedMatching DOID:732 urethral disease oboInOwl:hasDbXref ICD10CM:N36.9 semapv:UnspecifiedMatching DOID:732 urethral disease oboInOwl:hasDbXref MESH:D014522 semapv:UnspecifiedMatching DOID:732 urethral disease oboInOwl:hasDbXref NCI:C26903 semapv:UnspecifiedMatching -DOID:732 urethral disease oboInOwl:hasDbXref UMLS_CUI:C0041969 semapv:UnspecifiedMatching +DOID:732 urethral disease oboInOwl:hasDbXref UMLS:C0041969 semapv:UnspecifiedMatching DOID:7320 ovarian serous cystadenofibroma oboInOwl:hasDbXref NCI:C40032 semapv:UnspecifiedMatching -DOID:7320 ovarian serous cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C0877572 semapv:UnspecifiedMatching +DOID:7320 ovarian serous cystadenofibroma oboInOwl:hasDbXref UMLS:C0877572 semapv:UnspecifiedMatching DOID:7326 cranial pseudosarcomatous fasciitis oboInOwl:hasDbXref NCI:C27248 semapv:UnspecifiedMatching -DOID:7326 cranial pseudosarcomatous fasciitis oboInOwl:hasDbXref UMLS_CUI:C1333162 semapv:UnspecifiedMatching +DOID:7326 cranial pseudosarcomatous fasciitis oboInOwl:hasDbXref UMLS:C1333162 semapv:UnspecifiedMatching DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref ICD10CM:M72.4 semapv:UnspecifiedMatching DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref NCI:C3827 semapv:UnspecifiedMatching -DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0410005 semapv:UnspecifiedMatching +DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref UMLS:C0410005 semapv:UnspecifiedMatching DOID:7328 iris spindle cell melanoma oboInOwl:hasDbXref NCI:C6098 semapv:UnspecifiedMatching -DOID:7328 iris spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1334287 semapv:UnspecifiedMatching +DOID:7328 iris spindle cell melanoma oboInOwl:hasDbXref UMLS:C1334287 semapv:UnspecifiedMatching DOID:7332 esophageal tuberculosis oboInOwl:hasDbXref ICD9CM:017.8 semapv:UnspecifiedMatching -DOID:7332 esophageal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152902 semapv:UnspecifiedMatching +DOID:7332 esophageal tuberculosis oboInOwl:hasDbXref UMLS:C0152902 semapv:UnspecifiedMatching DOID:7333 nephrogenic adenoma of urinary bladder oboInOwl:hasDbXref NCI:C7415 semapv:UnspecifiedMatching -DOID:7333 nephrogenic adenoma of urinary bladder oboInOwl:hasDbXref UMLS_CUI:C1336892 semapv:UnspecifiedMatching +DOID:7333 nephrogenic adenoma of urinary bladder oboInOwl:hasDbXref UMLS:C1336892 semapv:UnspecifiedMatching DOID:7334 nephrogenic adenoma oboInOwl:hasDbXref NCI:C97097 semapv:UnspecifiedMatching -DOID:7334 nephrogenic adenoma oboInOwl:hasDbXref UMLS_CUI:C0334039 semapv:UnspecifiedMatching +DOID:7334 nephrogenic adenoma oboInOwl:hasDbXref UMLS:C0334039 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref GARD:9390 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref ICD10CM:C68.0 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref ICD9CM:189.3 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref MESH:D014523 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref NCI:C7507 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref NCI:C9106 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0153620 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0700101 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref UMLS:C0153620 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref UMLS:C0700101 semapv:UnspecifiedMatching DOID:7340 childhood ovarian dysgerminoma oboInOwl:hasDbXref NCI:C6550 semapv:UnspecifiedMatching -DOID:7340 childhood ovarian dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C1332988 semapv:UnspecifiedMatching +DOID:7340 childhood ovarian dysgerminoma oboInOwl:hasDbXref UMLS:C1332988 semapv:UnspecifiedMatching DOID:7347 ovarian stromal hyperthecosis oboInOwl:hasDbXref NCI:C40446 semapv:UnspecifiedMatching -DOID:7347 ovarian stromal hyperthecosis oboInOwl:hasDbXref UMLS_CUI:C1518743 semapv:UnspecifiedMatching +DOID:7347 ovarian stromal hyperthecosis oboInOwl:hasDbXref UMLS:C1518743 semapv:UnspecifiedMatching DOID:7350 thymic dysplasia oboInOwl:hasDbXref NCI:C27802 semapv:UnspecifiedMatching -DOID:7350 thymic dysplasia oboInOwl:hasDbXref UMLS_CUI:C1331541 semapv:UnspecifiedMatching +DOID:7350 thymic dysplasia oboInOwl:hasDbXref UMLS:C1331541 semapv:UnspecifiedMatching DOID:7356 rectum sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C5556 semapv:UnspecifiedMatching -DOID:7356 rectum sarcomatoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335689 semapv:UnspecifiedMatching +DOID:7356 rectum sarcomatoid carcinoma oboInOwl:hasDbXref UMLS:C1335689 semapv:UnspecifiedMatching DOID:736 male urethral cancer oboInOwl:hasDbXref NCI:C39867 semapv:UnspecifiedMatching -DOID:736 male urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1518164 semapv:UnspecifiedMatching +DOID:736 male urethral cancer oboInOwl:hasDbXref UMLS:C1518164 semapv:UnspecifiedMatching DOID:7360 solid pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39925 semapv:UnspecifiedMatching -DOID:7360 solid pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515312 semapv:UnspecifiedMatching +DOID:7360 solid pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515312 semapv:UnspecifiedMatching DOID:7363 vulvar keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40284 semapv:UnspecifiedMatching DOID:7365 Kimura disease oboInOwl:hasDbXref GARD:6835 semapv:UnspecifiedMatching DOID:7365 Kimura disease oboInOwl:hasDbXref MESH:D000082242 semapv:UnspecifiedMatching DOID:7365 Kimura disease oboInOwl:hasDbXref NCI:C26867 semapv:UnspecifiedMatching -DOID:7365 Kimura disease oboInOwl:hasDbXref UMLS_CUI:C0033838 semapv:UnspecifiedMatching +DOID:7365 Kimura disease oboInOwl:hasDbXref UMLS:C0033838 semapv:UnspecifiedMatching DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref MESH:D000093284 semapv:UnspecifiedMatching DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref NCI:C27474 semapv:UnspecifiedMatching -DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C1336527 semapv:UnspecifiedMatching +DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref UMLS:C1336527 semapv:UnspecifiedMatching DOID:7378 pituitary hypoplasia oboInOwl:hasDbXref NCI:C27343 semapv:UnspecifiedMatching -DOID:7378 pituitary hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0948740 semapv:UnspecifiedMatching +DOID:7378 pituitary hypoplasia oboInOwl:hasDbXref UMLS:C0948740 semapv:UnspecifiedMatching DOID:7379 adrenal medulla carcinoma oboInOwl:hasDbXref NCI:C9276 semapv:UnspecifiedMatching -DOID:7379 adrenal medulla carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334717 semapv:UnspecifiedMatching +DOID:7379 adrenal medulla carcinoma oboInOwl:hasDbXref UMLS:C1334717 semapv:UnspecifiedMatching DOID:738 female urethral cancer oboInOwl:hasDbXref NCI:C39866 semapv:UnspecifiedMatching -DOID:738 female urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1517154 semapv:UnspecifiedMatching +DOID:738 female urethral cancer oboInOwl:hasDbXref UMLS:C1517154 semapv:UnspecifiedMatching DOID:7380 squamous cell papilloma of skin oboInOwl:hasDbXref NCI:C4462 semapv:UnspecifiedMatching -DOID:7380 squamous cell papilloma of skin oboInOwl:hasDbXref UMLS_CUI:C0345983 semapv:UnspecifiedMatching +DOID:7380 squamous cell papilloma of skin oboInOwl:hasDbXref UMLS:C0345983 semapv:UnspecifiedMatching DOID:7381 lymphohistiocytoid mesothelioma oboInOwl:hasDbXref NCI:C27779 semapv:UnspecifiedMatching -DOID:7381 lymphohistiocytoid mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1334464 semapv:UnspecifiedMatching +DOID:7381 lymphohistiocytoid mesothelioma oboInOwl:hasDbXref UMLS:C1334464 semapv:UnspecifiedMatching DOID:7388 pulmonary vein leiomyosarcoma oboInOwl:hasDbXref NCI:C5374 semapv:UnspecifiedMatching -DOID:7388 pulmonary vein leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335575 semapv:UnspecifiedMatching +DOID:7388 pulmonary vein leiomyosarcoma oboInOwl:hasDbXref UMLS:C1335575 semapv:UnspecifiedMatching DOID:7389 pulmonary artery leiomyosarcoma oboInOwl:hasDbXref NCI:C5373 semapv:UnspecifiedMatching -DOID:7389 pulmonary artery leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335572 semapv:UnspecifiedMatching +DOID:7389 pulmonary artery leiomyosarcoma oboInOwl:hasDbXref UMLS:C1335572 semapv:UnspecifiedMatching DOID:7390 superior vena cava leiomyosarcoma oboInOwl:hasDbXref NCI:C6745 semapv:UnspecifiedMatching -DOID:7390 superior vena cava leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336531 semapv:UnspecifiedMatching +DOID:7390 superior vena cava leiomyosarcoma oboInOwl:hasDbXref UMLS:C1336531 semapv:UnspecifiedMatching DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C4970 semapv:UnspecifiedMatching -DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C0751675 semapv:UnspecifiedMatching +DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0751675 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref ICD10CM:D75.9 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref ICD9CM:289.9 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref MESH:D006402 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref NCI:C26323 semapv:UnspecifiedMatching -DOID:74 hematopoietic system disease oboInOwl:hasDbXref UMLS_CUI:C0018939 semapv:UnspecifiedMatching +DOID:74 hematopoietic system disease oboInOwl:hasDbXref UMLS:C0018939 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref GARD:3904 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref NCI:C4692 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref ORDO:647 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS_CUI:C0398791 semapv:UnspecifiedMatching +DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS:C0398791 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome skos:exactMatch OMIM:251260 semapv:UnspecifiedMatching DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27447 semapv:UnspecifiedMatching -DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274139 semapv:UnspecifiedMatching +DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS:C3274139 semapv:UnspecifiedMatching DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27448 semapv:UnspecifiedMatching -DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274140 semapv:UnspecifiedMatching +DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS:C3274140 semapv:UnspecifiedMatching DOID:7408 vulvar keratoacanthoma oboInOwl:hasDbXref NCI:C128167 semapv:UnspecifiedMatching -DOID:7408 vulvar keratoacanthoma oboInOwl:hasDbXref UMLS_CUI:C4288007 semapv:UnspecifiedMatching +DOID:7408 vulvar keratoacanthoma oboInOwl:hasDbXref UMLS:C4288007 semapv:UnspecifiedMatching DOID:7409 vulvar non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40285 semapv:UnspecifiedMatching -DOID:7409 vulvar non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1520092 semapv:UnspecifiedMatching +DOID:7409 vulvar non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1520092 semapv:UnspecifiedMatching DOID:7411 ovarian endometrioid cystadenofibroma oboInOwl:hasDbXref NCI:C27288 semapv:UnspecifiedMatching -DOID:7411 ovarian endometrioid cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1335158 semapv:UnspecifiedMatching +DOID:7411 ovarian endometrioid cystadenofibroma oboInOwl:hasDbXref UMLS:C1335158 semapv:UnspecifiedMatching DOID:7426 cutaneous anthrax oboInOwl:hasDbXref GARD:8158 semapv:UnspecifiedMatching DOID:7426 cutaneous anthrax oboInOwl:hasDbXref ICD10CM:A22.0 semapv:UnspecifiedMatching DOID:7426 cutaneous anthrax oboInOwl:hasDbXref ICD9CM:022.0 semapv:UnspecifiedMatching DOID:7426 cutaneous anthrax oboInOwl:hasDbXref MESH:C531621 semapv:UnspecifiedMatching -DOID:7426 cutaneous anthrax oboInOwl:hasDbXref UMLS_CUI:C0003177 semapv:UnspecifiedMatching +DOID:7426 cutaneous anthrax oboInOwl:hasDbXref UMLS:C0003177 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref GARD:8157 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref ICD10CM:A22 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref ICD9CM:022 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref MESH:D000881 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref NCI:C84565 semapv:UnspecifiedMatching -DOID:7427 anthrax disease oboInOwl:hasDbXref UMLS_CUI:C0003175 semapv:UnspecifiedMatching +DOID:7427 anthrax disease oboInOwl:hasDbXref UMLS:C0003175 semapv:UnspecifiedMatching DOID:7428 pineal region germinoma oboInOwl:hasDbXref NCI:C8712 semapv:UnspecifiedMatching -DOID:7428 pineal region germinoma oboInOwl:hasDbXref UMLS_CUI:C0854912 semapv:UnspecifiedMatching +DOID:7428 pineal region germinoma oboInOwl:hasDbXref UMLS:C0854912 semapv:UnspecifiedMatching DOID:7429 childhood brain germinoma oboInOwl:hasDbXref NCI:C6207 semapv:UnspecifiedMatching -DOID:7429 childhood brain germinoma oboInOwl:hasDbXref UMLS_CUI:C1332948 semapv:UnspecifiedMatching +DOID:7429 childhood brain germinoma oboInOwl:hasDbXref UMLS:C1332948 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref ICD10CM:L50.3 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref ICD9CM:708.3 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref NCI:C111885 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref OMIM:125635 semapv:UnspecifiedMatching -DOID:743 dermatographia oboInOwl:hasDbXref UMLS_CUI:C0343065 semapv:UnspecifiedMatching +DOID:743 dermatographia oboInOwl:hasDbXref UMLS:C0343065 semapv:UnspecifiedMatching DOID:743 dermatographia skos:exactMatch OMIM:125635 semapv:UnspecifiedMatching DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref NCI:C5795 semapv:UnspecifiedMatching -DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref UMLS_CUI:C1377598 semapv:UnspecifiedMatching +DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref UMLS:C1377598 semapv:UnspecifiedMatching DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39930 semapv:UnspecifiedMatching -DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515311 semapv:UnspecifiedMatching +DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515311 semapv:UnspecifiedMatching DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C27850 semapv:UnspecifiedMatching -DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336913 semapv:UnspecifiedMatching +DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1336913 semapv:UnspecifiedMatching DOID:7437 uterus perivascular epithelioid cell tumor oboInOwl:hasDbXref NCI:C40180 semapv:UnspecifiedMatching -DOID:7437 uterus perivascular epithelioid cell tumor oboInOwl:hasDbXref UMLS_CUI:C1519862 semapv:UnspecifiedMatching +DOID:7437 uterus perivascular epithelioid cell tumor oboInOwl:hasDbXref UMLS:C1519862 semapv:UnspecifiedMatching DOID:7438 ovarian clear cell cystadenocarcinoma oboInOwl:hasDbXref NCI:C7980 semapv:UnspecifiedMatching -DOID:7438 ovarian clear cell cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279667 semapv:UnspecifiedMatching +DOID:7438 ovarian clear cell cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0279667 semapv:UnspecifiedMatching DOID:7439 polyp of middle ear oboInOwl:hasDbXref ICD10CM:H74.4 semapv:UnspecifiedMatching DOID:7439 polyp of middle ear oboInOwl:hasDbXref NCI:C6933 semapv:UnspecifiedMatching -DOID:7439 polyp of middle ear oboInOwl:hasDbXref UMLS_CUI:C0271466 semapv:UnspecifiedMatching +DOID:7439 polyp of middle ear oboInOwl:hasDbXref UMLS:C0271466 semapv:UnspecifiedMatching DOID:7441 chronic metabolic polyneuropathy oboInOwl:hasDbXref NCI:C35602 semapv:UnspecifiedMatching -DOID:7441 chronic metabolic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1333042 semapv:UnspecifiedMatching +DOID:7441 chronic metabolic polyneuropathy oboInOwl:hasDbXref UMLS:C1333042 semapv:UnspecifiedMatching DOID:7442 monoclonal gammopathy of uncertain significance oboInOwl:hasDbXref GARD:7034 semapv:UnspecifiedMatching DOID:7444 obsolete diffuse intraductal papillomatosis oboInOwl:hasDbXref NCI:C7364 semapv:UnspecifiedMatching -DOID:7444 obsolete diffuse intraductal papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1377912 semapv:UnspecifiedMatching +DOID:7444 obsolete diffuse intraductal papillomatosis oboInOwl:hasDbXref UMLS:C1377912 semapv:UnspecifiedMatching DOID:745 epididymis adenomatoid tumor oboInOwl:hasDbXref NCI:C6382 semapv:UnspecifiedMatching -DOID:745 epididymis adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C1333415 semapv:UnspecifiedMatching +DOID:745 epididymis adenomatoid tumor oboInOwl:hasDbXref UMLS:C1333415 semapv:UnspecifiedMatching DOID:7457 enterobiasis oboInOwl:hasDbXref ICD10CM:B80 semapv:UnspecifiedMatching DOID:7457 enterobiasis oboInOwl:hasDbXref MESH:D010123 semapv:UnspecifiedMatching -DOID:7457 enterobiasis oboInOwl:hasDbXref UMLS_CUI:C0030100 semapv:UnspecifiedMatching +DOID:7457 enterobiasis oboInOwl:hasDbXref UMLS:C0030100 semapv:UnspecifiedMatching DOID:7459 acantholytic variant squamous cell breast carcinoma oboInOwl:hasDbXref NCI:C40359 semapv:UnspecifiedMatching -DOID:7459 acantholytic variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519485 semapv:UnspecifiedMatching +DOID:7459 acantholytic variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS:C1519485 semapv:UnspecifiedMatching DOID:746 adenomatoid tumor oboInOwl:hasDbXref ICD10CM:D19.9 semapv:UnspecifiedMatching DOID:746 adenomatoid tumor oboInOwl:hasDbXref ICDO:9054/0 semapv:UnspecifiedMatching DOID:746 adenomatoid tumor oboInOwl:hasDbXref MESH:D018254 semapv:UnspecifiedMatching DOID:746 adenomatoid tumor oboInOwl:hasDbXref NCI:C3762 semapv:UnspecifiedMatching -DOID:746 adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C0206675 semapv:UnspecifiedMatching +DOID:746 adenomatoid tumor oboInOwl:hasDbXref UMLS:C0206675 semapv:UnspecifiedMatching DOID:746 adenomatoid tumor skos:exactMatch MESH:D018254 semapv:UnspecifiedMatching DOID:7460 spindle cell variant squamous cell breast carcinoma oboInOwl:hasDbXref NCI:C40358 semapv:UnspecifiedMatching -DOID:7460 spindle cell variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519487 semapv:UnspecifiedMatching +DOID:7460 spindle cell variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS:C1519487 semapv:UnspecifiedMatching DOID:7461 large cell keratinizing variant squamous cell breast carcinoma oboInOwl:hasDbXref NCI:C40357 semapv:UnspecifiedMatching -DOID:7461 large cell keratinizing variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519486 semapv:UnspecifiedMatching +DOID:7461 large cell keratinizing variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS:C1519486 semapv:UnspecifiedMatching DOID:7463 childhood pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7959 semapv:UnspecifiedMatching -DOID:7463 childhood pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279614 semapv:UnspecifiedMatching +DOID:7463 childhood pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0279614 semapv:UnspecifiedMatching DOID:7465 chronic NK-cell lymphocytosis oboInOwl:hasDbXref NCI:C39591 semapv:UnspecifiedMatching -DOID:7465 chronic NK-cell lymphocytosis oboInOwl:hasDbXref UMLS_CUI:C1512709 semapv:UnspecifiedMatching +DOID:7465 chronic NK-cell lymphocytosis oboInOwl:hasDbXref UMLS:C1512709 semapv:UnspecifiedMatching DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref ICD10CM:C45.0 semapv:UnspecifiedMatching DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref MESH:D000086002 semapv:UnspecifiedMatching DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref NCI:C7376 semapv:UnspecifiedMatching -DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0812413 semapv:UnspecifiedMatching +DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref UMLS:C0812413 semapv:UnspecifiedMatching DOID:7475 diverticulitis oboInOwl:hasDbXref MESH:D004238 semapv:UnspecifiedMatching DOID:7475 diverticulitis oboInOwl:hasDbXref NCI:C26752 semapv:UnspecifiedMatching -DOID:7475 diverticulitis oboInOwl:hasDbXref UMLS_CUI:C0012813 semapv:UnspecifiedMatching +DOID:7475 diverticulitis oboInOwl:hasDbXref UMLS:C0012813 semapv:UnspecifiedMatching DOID:7479 duodenal somatostatinoma oboInOwl:hasDbXref NCI:C27407 semapv:UnspecifiedMatching -DOID:7479 duodenal somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C1333320 semapv:UnspecifiedMatching +DOID:7479 duodenal somatostatinoma oboInOwl:hasDbXref UMLS:C1333320 semapv:UnspecifiedMatching DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref ICDO:8014/3 semapv:UnspecifiedMatching DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref NCI:C6876 semapv:UnspecifiedMatching -DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref UMLS_CUI:C1265997 semapv:UnspecifiedMatching +DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref UMLS:C1265997 semapv:UnspecifiedMatching DOID:7482 petrous apex meningioma oboInOwl:hasDbXref NCI:C5271 semapv:UnspecifiedMatching -DOID:7482 petrous apex meningioma oboInOwl:hasDbXref UMLS_CUI:C1335396 semapv:UnspecifiedMatching +DOID:7482 petrous apex meningioma oboInOwl:hasDbXref UMLS:C1335396 semapv:UnspecifiedMatching DOID:7483 cervical keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40187 semapv:UnspecifiedMatching -DOID:7483 cervical keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517658 semapv:UnspecifiedMatching +DOID:7483 cervical keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1517658 semapv:UnspecifiedMatching DOID:7488 posterior urethra cancer oboInOwl:hasDbXref NCI:C7640 semapv:UnspecifiedMatching -DOID:7488 posterior urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0279931 semapv:UnspecifiedMatching +DOID:7488 posterior urethra cancer oboInOwl:hasDbXref UMLS:C0279931 semapv:UnspecifiedMatching DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref ICD10CM:M92.52 semapv:UnspecifiedMatching DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref NCI:C34874 semapv:UnspecifiedMatching -DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref UMLS_CUI:C0029376 semapv:UnspecifiedMatching +DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref UMLS:C0029376 semapv:UnspecifiedMatching DOID:7491 vulvar proximal-type epithelioid sarcoma oboInOwl:hasDbXref NCI:C40319 semapv:UnspecifiedMatching -DOID:7491 vulvar proximal-type epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1520093 semapv:UnspecifiedMatching +DOID:7491 vulvar proximal-type epithelioid sarcoma oboInOwl:hasDbXref UMLS:C1520093 semapv:UnspecifiedMatching DOID:7492 central epithelioid sarcoma oboInOwl:hasDbXref NCI:C27472 semapv:UnspecifiedMatching -DOID:7492 central epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335563 semapv:UnspecifiedMatching +DOID:7492 central epithelioid sarcoma oboInOwl:hasDbXref UMLS:C1335563 semapv:UnspecifiedMatching DOID:7497 brain ependymoma oboInOwl:hasDbXref NCI:C3861 semapv:UnspecifiedMatching -DOID:7497 brain ependymoma oboInOwl:hasDbXref UMLS_CUI:C0238029 semapv:UnspecifiedMatching +DOID:7497 brain ependymoma oboInOwl:hasDbXref UMLS:C0238029 semapv:UnspecifiedMatching DOID:75 lymphatic system disease oboInOwl:hasDbXref MESH:D008206 semapv:UnspecifiedMatching -DOID:75 lymphatic system disease oboInOwl:hasDbXref UMLS_CUI:C0024228 semapv:UnspecifiedMatching +DOID:75 lymphatic system disease oboInOwl:hasDbXref UMLS:C0024228 semapv:UnspecifiedMatching DOID:750 peptic ulcer disease oboInOwl:hasDbXref ICD10CM:K27 semapv:UnspecifiedMatching DOID:750 peptic ulcer disease oboInOwl:hasDbXref ICD9CM:533 semapv:UnspecifiedMatching DOID:750 peptic ulcer disease oboInOwl:hasDbXref MESH:D010437 semapv:UnspecifiedMatching DOID:750 peptic ulcer disease oboInOwl:hasDbXref NCI:C3318 semapv:UnspecifiedMatching -DOID:750 peptic ulcer disease oboInOwl:hasDbXref UMLS_CUI:C0030920 semapv:UnspecifiedMatching +DOID:750 peptic ulcer disease oboInOwl:hasDbXref UMLS:C0030920 semapv:UnspecifiedMatching DOID:7501 childhood infratentorial ependymoma oboInOwl:hasDbXref NCI:C9041 semapv:UnspecifiedMatching -DOID:7501 childhood infratentorial ependymoma oboInOwl:hasDbXref UMLS_CUI:C0278599 semapv:UnspecifiedMatching +DOID:7501 childhood infratentorial ependymoma oboInOwl:hasDbXref UMLS:C0278599 semapv:UnspecifiedMatching DOID:7502 childhood supratentorial ependymoma oboInOwl:hasDbXref NCI:C9043 semapv:UnspecifiedMatching -DOID:7502 childhood supratentorial ependymoma oboInOwl:hasDbXref UMLS_CUI:C0278650 semapv:UnspecifiedMatching +DOID:7502 childhood supratentorial ependymoma oboInOwl:hasDbXref UMLS:C0278650 semapv:UnspecifiedMatching DOID:7503 extrahepatic bile duct papillary adenoma oboInOwl:hasDbXref NCI:C5849 semapv:UnspecifiedMatching -DOID:7503 extrahepatic bile duct papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C1333510 semapv:UnspecifiedMatching +DOID:7503 extrahepatic bile duct papillary adenoma oboInOwl:hasDbXref UMLS:C1333510 semapv:UnspecifiedMatching DOID:7505 small intestine benign neoplasm oboInOwl:hasDbXref NCI:C4432 semapv:UnspecifiedMatching -DOID:7505 small intestine benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345832 semapv:UnspecifiedMatching +DOID:7505 small intestine benign neoplasm oboInOwl:hasDbXref UMLS:C0345832 semapv:UnspecifiedMatching DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27452 semapv:UnspecifiedMatching -DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274143 semapv:UnspecifiedMatching +DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS:C3274143 semapv:UnspecifiedMatching DOID:7511 breast intraductal papillomatosis oboInOwl:hasDbXref NCI:C5201 semapv:UnspecifiedMatching -DOID:7511 breast intraductal papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334247 semapv:UnspecifiedMatching +DOID:7511 breast intraductal papillomatosis oboInOwl:hasDbXref UMLS:C1334247 semapv:UnspecifiedMatching DOID:7512 obsolete localized intraductal papillomatosis oboInOwl:hasDbXref NCI:C7365 semapv:UnspecifiedMatching DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref MESH:C536741 semapv:UnspecifiedMatching DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref NCI:C40141 semapv:UnspecifiedMatching -DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1520159 semapv:UnspecifiedMatching +DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref UMLS:C1520159 semapv:UnspecifiedMatching DOID:7515 lumbar spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5298 semapv:UnspecifiedMatching -DOID:7515 lumbar spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334436 semapv:UnspecifiedMatching +DOID:7515 lumbar spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS:C1334436 semapv:UnspecifiedMatching DOID:7516 childhood central nervous system mixed germ cell tumor oboInOwl:hasDbXref NCI:C27403 semapv:UnspecifiedMatching -DOID:7516 childhood central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332956 semapv:UnspecifiedMatching +DOID:7516 childhood central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS:C1332956 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref ICD10CM:F52.31 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref ICD9CM:302.73 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref NCI:C34958 semapv:UnspecifiedMatching -DOID:7518 inhibited female orgasm oboInOwl:hasDbXref UMLS_CUI:C0033948 semapv:UnspecifiedMatching -DOID:7519 endocervical carcinoma oboInOwl:hasDbXref UMLS_CUI:C1299237 semapv:UnspecifiedMatching +DOID:7518 inhibited female orgasm oboInOwl:hasDbXref UMLS:C0033948 semapv:UnspecifiedMatching +DOID:7519 endocervical carcinoma oboInOwl:hasDbXref UMLS:C1299237 semapv:UnspecifiedMatching DOID:752 peptic ulcer perforation oboInOwl:hasDbXref MESH:D010439 semapv:UnspecifiedMatching -DOID:752 peptic ulcer perforation oboInOwl:hasDbXref UMLS_CUI:C0030925 semapv:UnspecifiedMatching +DOID:752 peptic ulcer perforation oboInOwl:hasDbXref UMLS:C0030925 semapv:UnspecifiedMatching DOID:7520 periductal breast myoepitheliosis oboInOwl:hasDbXref NCI:C40388 semapv:UnspecifiedMatching -DOID:7520 periductal breast myoepitheliosis oboInOwl:hasDbXref UMLS_CUI:C1518974 semapv:UnspecifiedMatching +DOID:7520 periductal breast myoepitheliosis oboInOwl:hasDbXref UMLS:C1518974 semapv:UnspecifiedMatching DOID:7521 breast myoepitheliosis oboInOwl:hasDbXref NCI:C40385 semapv:UnspecifiedMatching -DOID:7521 breast myoepitheliosis oboInOwl:hasDbXref UMLS_CUI:C1513799 semapv:UnspecifiedMatching +DOID:7521 breast myoepitheliosis oboInOwl:hasDbXref UMLS:C1513799 semapv:UnspecifiedMatching DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C6773 semapv:UnspecifiedMatching -DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS_CUI:C1332972 semapv:UnspecifiedMatching +DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS:C1332972 semapv:UnspecifiedMatching DOID:7527 acute gonococcal endometritis oboInOwl:hasDbXref ICD9CM:098.16 semapv:UnspecifiedMatching -DOID:7527 acute gonococcal endometritis oboInOwl:hasDbXref UMLS_CUI:C0153196 semapv:UnspecifiedMatching +DOID:7527 acute gonococcal endometritis oboInOwl:hasDbXref UMLS:C0153196 semapv:UnspecifiedMatching DOID:7528 acute endometritis oboInOwl:hasDbXref NCI:C27022 semapv:UnspecifiedMatching -DOID:7528 acute endometritis oboInOwl:hasDbXref UMLS_CUI:C0238103 semapv:UnspecifiedMatching +DOID:7528 acute endometritis oboInOwl:hasDbXref UMLS:C0238103 semapv:UnspecifiedMatching DOID:7531 anal gland adenocarcinoma oboInOwl:hasDbXref NCI:C5609 semapv:UnspecifiedMatching -DOID:7531 anal gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266027 semapv:UnspecifiedMatching +DOID:7531 anal gland adenocarcinoma oboInOwl:hasDbXref UMLS:C1266027 semapv:UnspecifiedMatching DOID:7532 squamous papillomatosis oboInOwl:hasDbXref ICDO:8060/0 semapv:UnspecifiedMatching DOID:7532 squamous papillomatosis oboInOwl:hasDbXref NCI:C9009 semapv:UnspecifiedMatching -DOID:7532 squamous papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1378340 semapv:UnspecifiedMatching +DOID:7532 squamous papillomatosis oboInOwl:hasDbXref UMLS:C1378340 semapv:UnspecifiedMatching DOID:7533 subareolar duct papillomatosis oboInOwl:hasDbXref NCI:C9008 semapv:UnspecifiedMatching DOID:7538 breast ductal adenoma oboInOwl:hasDbXref NCI:C40384 semapv:UnspecifiedMatching -DOID:7538 breast ductal adenoma oboInOwl:hasDbXref UMLS_CUI:C1511307 semapv:UnspecifiedMatching +DOID:7538 breast ductal adenoma oboInOwl:hasDbXref UMLS:C1511307 semapv:UnspecifiedMatching DOID:7539 pregnancy adenoma oboInOwl:hasDbXref NCI:C9473 semapv:UnspecifiedMatching -DOID:7539 pregnancy adenoma oboInOwl:hasDbXref UMLS_CUI:C1266023 semapv:UnspecifiedMatching +DOID:7539 pregnancy adenoma oboInOwl:hasDbXref UMLS:C1266023 semapv:UnspecifiedMatching DOID:754 bladder tuberculosis oboInOwl:hasDbXref ICD10CM:A18.12 semapv:UnspecifiedMatching DOID:754 bladder tuberculosis oboInOwl:hasDbXref ICD9CM:016.1 semapv:UnspecifiedMatching -DOID:754 bladder tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152793 semapv:UnspecifiedMatching +DOID:754 bladder tuberculosis oboInOwl:hasDbXref UMLS:C0152793 semapv:UnspecifiedMatching DOID:7540 breast apocrine adenoma oboInOwl:hasDbXref NCI:C40383 semapv:UnspecifiedMatching -DOID:7540 breast apocrine adenoma oboInOwl:hasDbXref UMLS_CUI:C1388299 semapv:UnspecifiedMatching +DOID:7540 breast apocrine adenoma oboInOwl:hasDbXref UMLS:C1388299 semapv:UnspecifiedMatching DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma oboInOwl:hasDbXref NCI:C40364 semapv:UnspecifiedMatching -DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513365 semapv:UnspecifiedMatching +DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma oboInOwl:hasDbXref UMLS:C1513365 semapv:UnspecifiedMatching DOID:7542 osteosarcoma arising in bone Paget's disease oboInOwl:hasDbXref NCI:C6469 semapv:UnspecifiedMatching -DOID:7542 osteosarcoma arising in bone Paget's disease oboInOwl:hasDbXref UMLS_CUI:C0334546 semapv:UnspecifiedMatching +DOID:7542 osteosarcoma arising in bone Paget's disease oboInOwl:hasDbXref UMLS:C0334546 semapv:UnspecifiedMatching DOID:7549 ceruminoma oboInOwl:hasDbXref NCI:C6088 semapv:UnspecifiedMatching -DOID:7549 ceruminoma oboInOwl:hasDbXref UMLS_CUI:C0334352 semapv:UnspecifiedMatching +DOID:7549 ceruminoma oboInOwl:hasDbXref UMLS:C0334352 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref ICD10CM:A54 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref ICD9CM:098 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref MEDDRA:10018604 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref MESH:D006069 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref NCI:C92950 semapv:UnspecifiedMatching -DOID:7551 gonorrhea oboInOwl:hasDbXref UMLS_CUI:C0018081 semapv:UnspecifiedMatching +DOID:7551 gonorrhea oboInOwl:hasDbXref UMLS:C0018081 semapv:UnspecifiedMatching DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant oboInOwl:hasDbXref NCI:C39824 semapv:UnspecifiedMatching -DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant oboInOwl:hasDbXref UMLS_CUI:C1512743 semapv:UnspecifiedMatching +DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant oboInOwl:hasDbXref UMLS:C1512743 semapv:UnspecifiedMatching DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref MESH:D020435 semapv:UnspecifiedMatching DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref NCI:C27212 semapv:UnspecifiedMatching -DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751942 semapv:UnspecifiedMatching +DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref UMLS:C0751942 semapv:UnspecifiedMatching DOID:7559 asymmetric motor neuropathy oboInOwl:hasDbXref NCI:C27953 semapv:UnspecifiedMatching -DOID:7559 asymmetric motor neuropathy oboInOwl:hasDbXref UMLS_CUI:C1332341 semapv:UnspecifiedMatching +DOID:7559 asymmetric motor neuropathy oboInOwl:hasDbXref UMLS:C1332341 semapv:UnspecifiedMatching DOID:7565 vulvar eccrine porocarcinoma oboInOwl:hasDbXref NCI:C40306 semapv:UnspecifiedMatching -DOID:7565 vulvar eccrine porocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1520081 semapv:UnspecifiedMatching +DOID:7565 vulvar eccrine porocarcinoma oboInOwl:hasDbXref UMLS:C1520081 semapv:UnspecifiedMatching DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref GARD:7431 semapv:UnspecifiedMatching DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref MESH:D057090 semapv:UnspecifiedMatching DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref NCI:C5560 semapv:UnspecifiedMatching -DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266065 semapv:UnspecifiedMatching +DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref UMLS:C1266065 semapv:UnspecifiedMatching DOID:7567 vulvar clear cell hidradenocarcinoma oboInOwl:hasDbXref NCI:C40307 semapv:UnspecifiedMatching -DOID:7567 vulvar clear cell hidradenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1520076 semapv:UnspecifiedMatching +DOID:7567 vulvar clear cell hidradenocarcinoma oboInOwl:hasDbXref UMLS:C1520076 semapv:UnspecifiedMatching DOID:7571 malignant cystic nephroma oboInOwl:hasDbXref ICDO:8959/3 semapv:UnspecifiedMatching DOID:7574 pancreatic intraductal papillary-colloid carcinoma oboInOwl:hasDbXref NCI:C5725 semapv:UnspecifiedMatching -DOID:7574 pancreatic intraductal papillary-colloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335304 semapv:UnspecifiedMatching -DOID:7575 pancreatic intraductal papillary-mucinous neoplasm oboInOwl:hasDbXref UMLS_CUI:C1266071 semapv:UnspecifiedMatching +DOID:7574 pancreatic intraductal papillary-colloid carcinoma oboInOwl:hasDbXref UMLS:C1335304 semapv:UnspecifiedMatching +DOID:7575 pancreatic intraductal papillary-mucinous neoplasm oboInOwl:hasDbXref UMLS:C1266071 semapv:UnspecifiedMatching DOID:7577 pancreatic foamy gland adenocarcinoma oboInOwl:hasDbXref NCI:C37256 semapv:UnspecifiedMatching -DOID:7577 pancreatic foamy gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335303 semapv:UnspecifiedMatching +DOID:7577 pancreatic foamy gland adenocarcinoma oboInOwl:hasDbXref UMLS:C1335303 semapv:UnspecifiedMatching DOID:7578 breast scirrhous carcinoma oboInOwl:hasDbXref NCI:C7362 semapv:UnspecifiedMatching -DOID:7578 breast scirrhous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346151 semapv:UnspecifiedMatching +DOID:7578 breast scirrhous carcinoma oboInOwl:hasDbXref UMLS:C0346151 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref GARD:4883 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref ICD10CM:Q89.3 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref ICD9CM:759.3 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref MESH:D012857 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref NCI:C87121 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref UMLS_CUI:C0037221 semapv:UnspecifiedMatching +DOID:758 situs inversus oboInOwl:hasDbXref UMLS:C0037221 semapv:UnspecifiedMatching DOID:758 situs inversus skos:exactMatch OMIM:270100 semapv:UnspecifiedMatching DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8189 semapv:UnspecifiedMatching -DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280329 semapv:UnspecifiedMatching +DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref UMLS:C0280329 semapv:UnspecifiedMatching DOID:7584 subglottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8190 semapv:UnspecifiedMatching -DOID:7584 subglottis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280330 semapv:UnspecifiedMatching +DOID:7584 subglottis verrucous carcinoma oboInOwl:hasDbXref UMLS:C0280330 semapv:UnspecifiedMatching DOID:7585 subglottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C8187 semapv:UnspecifiedMatching -DOID:7585 subglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280326 semapv:UnspecifiedMatching +DOID:7585 subglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0280326 semapv:UnspecifiedMatching DOID:7586 supraglottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8191 semapv:UnspecifiedMatching -DOID:7586 supraglottis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280331 semapv:UnspecifiedMatching +DOID:7586 supraglottis verrucous carcinoma oboInOwl:hasDbXref UMLS:C0280331 semapv:UnspecifiedMatching DOID:7587 supraglottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C4945 semapv:UnspecifiedMatching -DOID:7587 supraglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0749163 semapv:UnspecifiedMatching +DOID:7587 supraglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0749163 semapv:UnspecifiedMatching DOID:7591 gestational ovarian choriocarcinoma oboInOwl:hasDbXref NCI:C40442 semapv:UnspecifiedMatching -DOID:7591 gestational ovarian choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517538 semapv:UnspecifiedMatching +DOID:7591 gestational ovarian choriocarcinoma oboInOwl:hasDbXref UMLS:C1517538 semapv:UnspecifiedMatching DOID:7596 asbestos-related lung carcinoma oboInOwl:hasDbXref NCI:C27925 semapv:UnspecifiedMatching -DOID:7596 asbestos-related lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332337 semapv:UnspecifiedMatching +DOID:7596 asbestos-related lung carcinoma oboInOwl:hasDbXref UMLS:C1332337 semapv:UnspecifiedMatching DOID:7598 cervical lymphoepithelioma-like carcinoma oboInOwl:hasDbXref NCI:C40193 semapv:UnspecifiedMatching -DOID:7598 cervical lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516418 semapv:UnspecifiedMatching +DOID:7598 cervical lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS:C1516418 semapv:UnspecifiedMatching DOID:7599 lymphoepithelioma-like thymic carcinoma oboInOwl:hasDbXref NCI:C7998 semapv:UnspecifiedMatching -DOID:7599 lymphoepithelioma-like thymic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279706 semapv:UnspecifiedMatching +DOID:7599 lymphoepithelioma-like thymic carcinoma oboInOwl:hasDbXref UMLS:C0279706 semapv:UnspecifiedMatching DOID:76 stomach disease oboInOwl:hasDbXref MESH:D013272 semapv:UnspecifiedMatching DOID:76 stomach disease oboInOwl:hasDbXref NCI:C26886 semapv:UnspecifiedMatching -DOID:76 stomach disease oboInOwl:hasDbXref UMLS_CUI:C0038354 semapv:UnspecifiedMatching +DOID:76 stomach disease oboInOwl:hasDbXref UMLS:C0038354 semapv:UnspecifiedMatching DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma oboInOwl:hasDbXref NCI:C39821 semapv:UnspecifiedMatching -DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512736 semapv:UnspecifiedMatching +DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS:C1512736 semapv:UnspecifiedMatching DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref ICDO:9195/3 semapv:UnspecifiedMatching DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref NCI:C35870 semapv:UnspecifiedMatching -DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266166 semapv:UnspecifiedMatching +DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref UMLS:C1266166 semapv:UnspecifiedMatching DOID:7603 fibrosarcomatous osteosarcoma oboInOwl:hasDbXref NCI:C4020 semapv:UnspecifiedMatching -DOID:7603 fibrosarcomatous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279602 semapv:UnspecifiedMatching +DOID:7603 fibrosarcomatous osteosarcoma oboInOwl:hasDbXref UMLS:C0279602 semapv:UnspecifiedMatching DOID:7607 chief cell adenoma oboInOwl:hasDbXref ICDO:8321/0 semapv:UnspecifiedMatching DOID:7607 chief cell adenoma oboInOwl:hasDbXref NCI:C4154 semapv:UnspecifiedMatching -DOID:7607 chief cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334320 semapv:UnspecifiedMatching +DOID:7607 chief cell adenoma oboInOwl:hasDbXref UMLS:C0334320 semapv:UnspecifiedMatching DOID:7608 parathyroid adenoma oboInOwl:hasDbXref MESH:D010282 semapv:UnspecifiedMatching DOID:7608 parathyroid adenoma oboInOwl:hasDbXref NCI:C156757 semapv:UnspecifiedMatching -DOID:7608 parathyroid adenoma oboInOwl:hasDbXref UMLS_CUI:C0262587 semapv:UnspecifiedMatching +DOID:7608 parathyroid adenoma oboInOwl:hasDbXref UMLS:C0262587 semapv:UnspecifiedMatching DOID:7609 parathyroid transitional clear cell adenoma oboInOwl:hasDbXref NCI:C7993 semapv:UnspecifiedMatching -DOID:7609 parathyroid transitional clear cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0279700 semapv:UnspecifiedMatching +DOID:7609 parathyroid transitional clear cell adenoma oboInOwl:hasDbXref UMLS:C0279700 semapv:UnspecifiedMatching DOID:7610 mixed cell type adenoma of parathyroid oboInOwl:hasDbXref NCI:C7994 semapv:UnspecifiedMatching -DOID:7610 mixed cell type adenoma of parathyroid oboInOwl:hasDbXref UMLS_CUI:C0279701 semapv:UnspecifiedMatching +DOID:7610 mixed cell type adenoma of parathyroid oboInOwl:hasDbXref UMLS:C0279701 semapv:UnspecifiedMatching DOID:7611 parathyroid oncocytic adenoma oboInOwl:hasDbXref NCI:C27393 semapv:UnspecifiedMatching -DOID:7611 parathyroid oncocytic adenoma oboInOwl:hasDbXref UMLS_CUI:C1335351 semapv:UnspecifiedMatching +DOID:7611 parathyroid oncocytic adenoma oboInOwl:hasDbXref UMLS:C1335351 semapv:UnspecifiedMatching DOID:7612 childhood intracortical osteosarcoma oboInOwl:hasDbXref NCI:C6590 semapv:UnspecifiedMatching -DOID:7612 childhood intracortical osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332974 semapv:UnspecifiedMatching +DOID:7612 childhood intracortical osteosarcoma oboInOwl:hasDbXref UMLS:C1332974 semapv:UnspecifiedMatching DOID:7613 sarcomatosis of the meninges oboInOwl:hasDbXref NCI:C4334 semapv:UnspecifiedMatching -DOID:7613 sarcomatosis of the meninges oboInOwl:hasDbXref UMLS_CUI:C0334612 semapv:UnspecifiedMatching +DOID:7613 sarcomatosis of the meninges oboInOwl:hasDbXref UMLS:C0334612 semapv:UnspecifiedMatching DOID:7614 meninges sarcoma oboInOwl:hasDbXref NCI:C4073 semapv:UnspecifiedMatching -DOID:7614 meninges sarcoma oboInOwl:hasDbXref UMLS_CUI:C0302327 semapv:UnspecifiedMatching +DOID:7614 meninges sarcoma oboInOwl:hasDbXref UMLS:C0302327 semapv:UnspecifiedMatching DOID:7615 sarcomatosis oboInOwl:hasDbXref ICDO:8800/9 semapv:UnspecifiedMatching DOID:7615 sarcomatosis oboInOwl:hasDbXref NCI:C4243 semapv:UnspecifiedMatching -DOID:7615 sarcomatosis oboInOwl:hasDbXref UMLS_CUI:C0334451 semapv:UnspecifiedMatching +DOID:7615 sarcomatosis oboInOwl:hasDbXref UMLS:C0334451 semapv:UnspecifiedMatching DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C8290 semapv:UnspecifiedMatching -DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS_CUI:C0281330 semapv:UnspecifiedMatching +DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS:C0281330 semapv:UnspecifiedMatching DOID:7632 Cowper gland carcinoma oboInOwl:hasDbXref NCI:C39864 semapv:UnspecifiedMatching -DOID:7632 Cowper gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516284 semapv:UnspecifiedMatching +DOID:7632 Cowper gland carcinoma oboInOwl:hasDbXref UMLS:C1516284 semapv:UnspecifiedMatching DOID:7633 macular holes oboInOwl:hasDbXref MESH:D012167 semapv:UnspecifiedMatching DOID:7633 macular holes oboInOwl:hasDbXref NCI:C34795 semapv:UnspecifiedMatching -DOID:7633 macular holes oboInOwl:hasDbXref UMLS_CUI:C0024441 semapv:UnspecifiedMatching +DOID:7633 macular holes oboInOwl:hasDbXref UMLS:C0024441 semapv:UnspecifiedMatching DOID:7634 suprasellar meningioma oboInOwl:hasDbXref NCI:C6776 semapv:UnspecifiedMatching -DOID:7634 suprasellar meningioma oboInOwl:hasDbXref UMLS_CUI:C1336535 semapv:UnspecifiedMatching +DOID:7634 suprasellar meningioma oboInOwl:hasDbXref UMLS:C1336535 semapv:UnspecifiedMatching DOID:7635 Gasserian ganglion meningioma oboInOwl:hasDbXref NCI:C6779 semapv:UnspecifiedMatching -DOID:7635 Gasserian ganglion meningioma oboInOwl:hasDbXref UMLS_CUI:C1333760 semapv:UnspecifiedMatching +DOID:7635 Gasserian ganglion meningioma oboInOwl:hasDbXref UMLS:C1333760 semapv:UnspecifiedMatching DOID:7639 malignant granular cell skin tumor oboInOwl:hasDbXref NCI:C5614 semapv:UnspecifiedMatching -DOID:7639 malignant granular cell skin tumor oboInOwl:hasDbXref UMLS_CUI:C1334575 semapv:UnspecifiedMatching +DOID:7639 malignant granular cell skin tumor oboInOwl:hasDbXref UMLS:C1334575 semapv:UnspecifiedMatching DOID:7642 cholangiolocellular carcinoma oboInOwl:hasDbXref NCI:C41617 semapv:UnspecifiedMatching -DOID:7642 cholangiolocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516490 semapv:UnspecifiedMatching +DOID:7642 cholangiolocellular carcinoma oboInOwl:hasDbXref UMLS:C1516490 semapv:UnspecifiedMatching DOID:7643 acantholytic squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C4460 semapv:UnspecifiedMatching -DOID:7643 acantholytic squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345979 semapv:UnspecifiedMatching +DOID:7643 acantholytic squamous cell skin carcinoma oboInOwl:hasDbXref UMLS:C0345979 semapv:UnspecifiedMatching DOID:7646 multiple spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5275 semapv:UnspecifiedMatching -DOID:7646 multiple spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334825 semapv:UnspecifiedMatching +DOID:7646 multiple spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS:C1334825 semapv:UnspecifiedMatching DOID:7650 pulmonary type ovarian small cell carcinoma oboInOwl:hasDbXref NCI:C40440 semapv:UnspecifiedMatching -DOID:7650 pulmonary type ovarian small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518737 semapv:UnspecifiedMatching +DOID:7650 pulmonary type ovarian small cell carcinoma oboInOwl:hasDbXref UMLS:C1518737 semapv:UnspecifiedMatching DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type oboInOwl:hasDbXref NCI:C40439 semapv:UnspecifiedMatching -DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type oboInOwl:hasDbXref UMLS_CUI:C1518736 semapv:UnspecifiedMatching +DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type oboInOwl:hasDbXref UMLS:C1518736 semapv:UnspecifiedMatching DOID:7656 adult infiltrating astrocytic neoplasm oboInOwl:hasDbXref NCI:C8289 semapv:UnspecifiedMatching -DOID:7656 adult infiltrating astrocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0281329 semapv:UnspecifiedMatching +DOID:7656 adult infiltrating astrocytic neoplasm oboInOwl:hasDbXref UMLS:C0281329 semapv:UnspecifiedMatching DOID:7664 endometrial mixed adenocarcinoma oboInOwl:hasDbXref NCI:C40153 semapv:UnspecifiedMatching DOID:7665 non-gestational ovarian choriocarcinoma oboInOwl:hasDbXref NCI:C39991 semapv:UnspecifiedMatching -DOID:7665 non-gestational ovarian choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518355 semapv:UnspecifiedMatching +DOID:7665 non-gestational ovarian choriocarcinoma oboInOwl:hasDbXref UMLS:C1518355 semapv:UnspecifiedMatching DOID:767 muscular atrophy oboInOwl:hasDbXref MESH:D009133 semapv:UnspecifiedMatching DOID:767 muscular atrophy oboInOwl:hasDbXref NCI:C94834 semapv:UnspecifiedMatching -DOID:767 muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0026846 semapv:UnspecifiedMatching +DOID:767 muscular atrophy oboInOwl:hasDbXref UMLS:C0026846 semapv:UnspecifiedMatching DOID:7675 testicular fibroma oboInOwl:hasDbXref NCI:C39951 semapv:UnspecifiedMatching -DOID:7675 testicular fibroma oboInOwl:hasDbXref UMLS_CUI:C1515282 semapv:UnspecifiedMatching +DOID:7675 testicular fibroma oboInOwl:hasDbXref UMLS:C1515282 semapv:UnspecifiedMatching DOID:7676 testicular thecoma oboInOwl:hasDbXref NCI:C39952 semapv:UnspecifiedMatching -DOID:7676 testicular thecoma oboInOwl:hasDbXref UMLS_CUI:C1515299 semapv:UnspecifiedMatching +DOID:7676 testicular thecoma oboInOwl:hasDbXref UMLS:C1515299 semapv:UnspecifiedMatching DOID:7678 sphenoid sinus inverted papilloma oboInOwl:hasDbXref NCI:C6841 semapv:UnspecifiedMatching -DOID:7678 sphenoid sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1336037 semapv:UnspecifiedMatching +DOID:7678 sphenoid sinus inverted papilloma oboInOwl:hasDbXref UMLS:C1336037 semapv:UnspecifiedMatching DOID:7679 sphenoid sinus Schneiderian papilloma oboInOwl:hasDbXref NCI:C6838 semapv:UnspecifiedMatching -DOID:7679 sphenoid sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1336038 semapv:UnspecifiedMatching +DOID:7679 sphenoid sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS:C1336038 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref GARD:7563 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref ICDO:9510/3 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref NCI:C7541 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching -DOID:768 retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0035335 semapv:UnspecifiedMatching +DOID:768 retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 semapv:UnspecifiedMatching DOID:768 retinoblastoma skos:exactMatch OMIM:180200 semapv:UnspecifiedMatching DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref NCI:C6240 semapv:UnspecifiedMatching -DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334642 semapv:UnspecifiedMatching +DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref UMLS:C1334642 semapv:UnspecifiedMatching DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref NCI:C41251 semapv:UnspecifiedMatching -DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518873 semapv:UnspecifiedMatching +DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref UMLS:C1518873 semapv:UnspecifiedMatching DOID:7689 leptomeninges sarcoma oboInOwl:hasDbXref NCI:C8312 semapv:UnspecifiedMatching -DOID:7689 leptomeninges sarcoma oboInOwl:hasDbXref UMLS_CUI:C1384416 semapv:UnspecifiedMatching +DOID:7689 leptomeninges sarcoma oboInOwl:hasDbXref UMLS:C1384416 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref EFO:0000621 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref GARD:7185 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref MESH:D009447 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref NCI:C3270 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref ORDO:635 semapv:UnspecifiedMatching -DOID:769 neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0027819 semapv:UnspecifiedMatching +DOID:769 neuroblastoma oboInOwl:hasDbXref UMLS:C0027819 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref EFO:0004214 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref GARD:9181 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref MESH:D017544 semapv:UnspecifiedMatching @@ -34488,83 +34801,83 @@ DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 semapv:Unspec DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0162871 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref UMLS:C0162871 semapv:UnspecifiedMatching DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref NCI:C39843 semapv:UnspecifiedMatching -DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511204 semapv:UnspecifiedMatching -DOID:7696 lung hilum cancer oboInOwl:hasDbXref UMLS_CUI:C0346601 semapv:UnspecifiedMatching +DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref UMLS:C1511204 semapv:UnspecifiedMatching +DOID:7696 lung hilum cancer oboInOwl:hasDbXref UMLS:C0346601 semapv:UnspecifiedMatching DOID:7697 pancreatic ACTH hormone producing tumor oboInOwl:hasDbXref NCI:C27466 semapv:UnspecifiedMatching -DOID:7697 pancreatic ACTH hormone producing tumor oboInOwl:hasDbXref UMLS_CUI:C1335300 semapv:UnspecifiedMatching +DOID:7697 pancreatic ACTH hormone producing tumor oboInOwl:hasDbXref UMLS:C1335300 semapv:UnspecifiedMatching DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref MESH:C536126 semapv:UnspecifiedMatching DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref NCI:C45837 semapv:UnspecifiedMatching -DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334977 semapv:UnspecifiedMatching +DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref UMLS:C1334977 semapv:UnspecifiedMatching DOID:77 gastrointestinal system disease oboInOwl:hasDbXref ICD10CM:K92.9 semapv:UnspecifiedMatching DOID:77 gastrointestinal system disease oboInOwl:hasDbXref ICD9CM:520-579.99 semapv:UnspecifiedMatching DOID:77 gastrointestinal system disease oboInOwl:hasDbXref MESH:D004066 semapv:UnspecifiedMatching -DOID:77 gastrointestinal system disease oboInOwl:hasDbXref UMLS_CUI:C0012242 semapv:UnspecifiedMatching +DOID:77 gastrointestinal system disease oboInOwl:hasDbXref UMLS:C0012242 semapv:UnspecifiedMatching DOID:7707 rectum signet ring adenocarcinoma oboInOwl:hasDbXref NCI:C9168 semapv:UnspecifiedMatching -DOID:7707 rectum signet ring adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279654 semapv:UnspecifiedMatching +DOID:7707 rectum signet ring adenocarcinoma oboInOwl:hasDbXref UMLS:C0279654 semapv:UnspecifiedMatching DOID:7708 perianal skin Paget's disease oboInOwl:hasDbXref NCI:C7476 semapv:UnspecifiedMatching -DOID:7708 perianal skin Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1332270 semapv:UnspecifiedMatching +DOID:7708 perianal skin Paget's disease oboInOwl:hasDbXref UMLS:C1332270 semapv:UnspecifiedMatching DOID:771 retinal cell cancer oboInOwl:hasDbXref NCI:C7061 semapv:UnspecifiedMatching -DOID:771 retinal cell cancer oboInOwl:hasDbXref UMLS_CUI:C1335765 semapv:UnspecifiedMatching +DOID:771 retinal cell cancer oboInOwl:hasDbXref UMLS:C1335765 semapv:UnspecifiedMatching DOID:7713 tuberculum sellae meningioma oboInOwl:hasDbXref NCI:C5284 semapv:UnspecifiedMatching -DOID:7713 tuberculum sellae meningioma oboInOwl:hasDbXref UMLS_CUI:C1336829 semapv:UnspecifiedMatching -DOID:7716 mixed ductal-endocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1301048 semapv:UnspecifiedMatching +DOID:7713 tuberculum sellae meningioma oboInOwl:hasDbXref UMLS:C1336829 semapv:UnspecifiedMatching +DOID:7716 mixed ductal-endocrine carcinoma oboInOwl:hasDbXref UMLS:C1301048 semapv:UnspecifiedMatching DOID:7717 colloid carcinoma of the pancreas oboInOwl:hasDbXref NCI:C37214 semapv:UnspecifiedMatching -DOID:7717 colloid carcinoma of the pancreas oboInOwl:hasDbXref UMLS_CUI:C1333081 semapv:UnspecifiedMatching +DOID:7717 colloid carcinoma of the pancreas oboInOwl:hasDbXref UMLS:C1333081 semapv:UnspecifiedMatching DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref MESH:D004830 semapv:UnspecifiedMatching DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref NCI:C3022 semapv:UnspecifiedMatching -DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref UMLS_CUI:C0014549 semapv:UnspecifiedMatching +DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref UMLS:C0014549 semapv:UnspecifiedMatching DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref ICDO:8551/3 semapv:UnspecifiedMatching DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref NCI:C5727 semapv:UnspecifiedMatching -DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266087 semapv:UnspecifiedMatching +DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref UMLS:C1266087 semapv:UnspecifiedMatching DOID:7731 childhood malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C8090 semapv:UnspecifiedMatching -DOID:7731 childhood malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0279983 semapv:UnspecifiedMatching +DOID:7731 childhood malignant hemangiopericytoma oboInOwl:hasDbXref UMLS:C0279983 semapv:UnspecifiedMatching DOID:7732 childhood malignant schwannoma oboInOwl:hasDbXref NCI:C8094 semapv:UnspecifiedMatching -DOID:7732 childhood malignant schwannoma oboInOwl:hasDbXref UMLS_CUI:C0279987 semapv:UnspecifiedMatching +DOID:7732 childhood malignant schwannoma oboInOwl:hasDbXref UMLS:C0279987 semapv:UnspecifiedMatching DOID:7733 signet ring cell intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C41619 semapv:UnspecifiedMatching -DOID:7733 signet ring cell intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519321 semapv:UnspecifiedMatching +DOID:7733 signet ring cell intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS:C1519321 semapv:UnspecifiedMatching DOID:7735 pancreatic colloid cystadenoma oboInOwl:hasDbXref NCI:C5718 semapv:UnspecifiedMatching -DOID:7735 pancreatic colloid cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335309 semapv:UnspecifiedMatching +DOID:7735 pancreatic colloid cystadenoma oboInOwl:hasDbXref UMLS:C1335309 semapv:UnspecifiedMatching DOID:7736 retinal telangiectasia oboInOwl:hasDbXref ICD9CM:362.15 semapv:UnspecifiedMatching -DOID:7736 retinal telangiectasia oboInOwl:hasDbXref UMLS_CUI:C0154835 semapv:UnspecifiedMatching +DOID:7736 retinal telangiectasia oboInOwl:hasDbXref UMLS:C0154835 semapv:UnspecifiedMatching DOID:774 retina lymphoma oboInOwl:hasDbXref NCI:C4365 semapv:UnspecifiedMatching -DOID:774 retina lymphoma oboInOwl:hasDbXref UMLS_CUI:C0339556 semapv:UnspecifiedMatching +DOID:774 retina lymphoma oboInOwl:hasDbXref UMLS:C0339556 semapv:UnspecifiedMatching DOID:7747 childhood extraocular retinoblastoma oboInOwl:hasDbXref NCI:C9048 semapv:UnspecifiedMatching -DOID:7747 childhood extraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C1321870 semapv:UnspecifiedMatching +DOID:7747 childhood extraocular retinoblastoma oboInOwl:hasDbXref UMLS:C1321870 semapv:UnspecifiedMatching DOID:775 intraocular lymphoma oboInOwl:hasDbXref MESH:D064090 semapv:UnspecifiedMatching DOID:775 intraocular lymphoma oboInOwl:hasDbXref NCI:C9184 semapv:UnspecifiedMatching -DOID:775 intraocular lymphoma oboInOwl:hasDbXref UMLS_CUI:C0281658 semapv:UnspecifiedMatching +DOID:775 intraocular lymphoma oboInOwl:hasDbXref UMLS:C0281658 semapv:UnspecifiedMatching DOID:7750 adult brain ependymoma oboInOwl:hasDbXref NCI:C9372 semapv:UnspecifiedMatching -DOID:7750 adult brain ependymoma oboInOwl:hasDbXref UMLS_CUI:C1332186 semapv:UnspecifiedMatching +DOID:7750 adult brain ependymoma oboInOwl:hasDbXref UMLS:C1332186 semapv:UnspecifiedMatching DOID:7752 extrahepatic biliary papillomatosis oboInOwl:hasDbXref NCI:C7124 semapv:UnspecifiedMatching -DOID:7752 extrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1333511 semapv:UnspecifiedMatching +DOID:7752 extrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS:C1333511 semapv:UnspecifiedMatching DOID:7756 neonatal leukemia oboInOwl:hasDbXref NCI:C3845 semapv:UnspecifiedMatching -DOID:7756 neonatal leukemia oboInOwl:hasDbXref UMLS_CUI:C0235813 semapv:UnspecifiedMatching +DOID:7756 neonatal leukemia oboInOwl:hasDbXref UMLS:C0235813 semapv:UnspecifiedMatching DOID:7757 childhood leukemia oboInOwl:hasDbXref NCI:C4989 semapv:UnspecifiedMatching -DOID:7757 childhood leukemia oboInOwl:hasDbXref UMLS_CUI:C1332977 semapv:UnspecifiedMatching +DOID:7757 childhood leukemia oboInOwl:hasDbXref UMLS:C1332977 semapv:UnspecifiedMatching DOID:7762 childhood multilocular cystic kidney neoplasm oboInOwl:hasDbXref NCI:C6566 semapv:UnspecifiedMatching -DOID:7762 childhood multilocular cystic kidney neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332983 semapv:UnspecifiedMatching +DOID:7762 childhood multilocular cystic kidney neoplasm oboInOwl:hasDbXref UMLS:C1332983 semapv:UnspecifiedMatching DOID:7763 carcinoma of supraglottis oboInOwl:hasDbXref NCI:C5973 semapv:UnspecifiedMatching -DOID:7763 carcinoma of supraglottis oboInOwl:hasDbXref UMLS_CUI:C1299240 semapv:UnspecifiedMatching +DOID:7763 carcinoma of supraglottis oboInOwl:hasDbXref UMLS:C1299240 semapv:UnspecifiedMatching DOID:7764 subglottis carcinoma oboInOwl:hasDbXref NCI:C5972 semapv:UnspecifiedMatching -DOID:7764 subglottis carcinoma oboInOwl:hasDbXref UMLS_CUI:C1299239 semapv:UnspecifiedMatching +DOID:7764 subglottis carcinoma oboInOwl:hasDbXref UMLS:C1299239 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref GARD:6121 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref ICD10CM:H35.02 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref ICD9CM:362.12 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref OMIM:300216 semapv:UnspecifiedMatching -DOID:7765 Coats disease oboInOwl:hasDbXref UMLS_CUI:C0154832 semapv:UnspecifiedMatching +DOID:7765 Coats disease oboInOwl:hasDbXref UMLS:C0154832 semapv:UnspecifiedMatching DOID:7765 Coats disease skos:exactMatch OMIM:300216 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref ICD10CM:F22 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref ICD9CM:297.1 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref MESH:D012563 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref NCI:C94379 semapv:UnspecifiedMatching -DOID:778 delusional disorder oboInOwl:hasDbXref UMLS_CUI:C0011251 semapv:UnspecifiedMatching +DOID:778 delusional disorder oboInOwl:hasDbXref UMLS:C0011251 semapv:UnspecifiedMatching DOID:7787 breast osteosarcoma oboInOwl:hasDbXref NCI:C5189 semapv:UnspecifiedMatching -DOID:7787 breast osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335149 semapv:UnspecifiedMatching +DOID:7787 breast osteosarcoma oboInOwl:hasDbXref UMLS:C1335149 semapv:UnspecifiedMatching DOID:7788 adult spinal cord ependymoma oboInOwl:hasDbXref NCI:C27399 semapv:UnspecifiedMatching -DOID:7788 adult spinal cord ependymoma oboInOwl:hasDbXref UMLS_CUI:C1332215 semapv:UnspecifiedMatching +DOID:7788 adult spinal cord ependymoma oboInOwl:hasDbXref UMLS:C1332215 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref GARD:7402 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref ICD10CM:O43 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref ICD9CM:646.9 semapv:UnspecifiedMatching @@ -34574,281 +34887,281 @@ DOID:780 placenta disease oboInOwl:hasDbXref NCI:C26857 semapv:UnspecifiedMatchi DOID:780 placenta disease oboInOwl:hasDbXref NCI:C27619 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref NCI:C34941 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref NCI:C35169 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0032045 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0032962 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0151864 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C1335423 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS:C0032045 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS:C0032962 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS:C0151864 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS:C1335423 semapv:UnspecifiedMatching DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref NCI:C27183 semapv:UnspecifiedMatching -DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref UMLS_CUI:C0559185 semapv:UnspecifiedMatching +DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref UMLS:C0559185 semapv:UnspecifiedMatching DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref NCI:C6865 semapv:UnspecifiedMatching -DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref UMLS_CUI:C1333026 semapv:UnspecifiedMatching +DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref UMLS:C1333026 semapv:UnspecifiedMatching DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref NCI:C7990 semapv:UnspecifiedMatching -DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0279695 semapv:UnspecifiedMatching +DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref UMLS:C0279695 semapv:UnspecifiedMatching DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma oboInOwl:hasDbXref NCI:C8272 semapv:UnspecifiedMatching -DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0280792 semapv:UnspecifiedMatching +DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma oboInOwl:hasDbXref UMLS:C0280792 semapv:UnspecifiedMatching DOID:7818 petroclival meningioma oboInOwl:hasDbXref NCI:C5278 semapv:UnspecifiedMatching -DOID:7818 petroclival meningioma oboInOwl:hasDbXref UMLS_CUI:C1335395 semapv:UnspecifiedMatching +DOID:7818 petroclival meningioma oboInOwl:hasDbXref UMLS:C1335395 semapv:UnspecifiedMatching DOID:7819 sphenoorbital meningioma oboInOwl:hasDbXref NCI:C5285 semapv:UnspecifiedMatching -DOID:7819 sphenoorbital meningioma oboInOwl:hasDbXref UMLS_CUI:C1336040 semapv:UnspecifiedMatching +DOID:7819 sphenoorbital meningioma oboInOwl:hasDbXref UMLS:C1336040 semapv:UnspecifiedMatching DOID:782 renal infectious disease oboInOwl:hasDbXref ICD10CM:N15.9 semapv:UnspecifiedMatching DOID:782 renal infectious disease oboInOwl:hasDbXref ICD9CM:590 semapv:UnspecifiedMatching -DOID:782 renal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0021313 semapv:UnspecifiedMatching +DOID:782 renal infectious disease oboInOwl:hasDbXref UMLS:C0021313 semapv:UnspecifiedMatching DOID:7820 sphenocavernous meningioma oboInOwl:hasDbXref NCI:C5313 semapv:UnspecifiedMatching -DOID:7820 sphenocavernous meningioma oboInOwl:hasDbXref UMLS_CUI:C1336036 semapv:UnspecifiedMatching +DOID:7820 sphenocavernous meningioma oboInOwl:hasDbXref UMLS:C1336036 semapv:UnspecifiedMatching DOID:7824 spinal multifocal clear cell meningioma oboInOwl:hasDbXref NCI:C5287 semapv:UnspecifiedMatching -DOID:7824 spinal multifocal clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C1336051 semapv:UnspecifiedMatching +DOID:7824 spinal multifocal clear cell meningioma oboInOwl:hasDbXref UMLS:C1336051 semapv:UnspecifiedMatching DOID:7825 chronic toxic polyneuropathy oboInOwl:hasDbXref NCI:C35603 semapv:UnspecifiedMatching -DOID:7825 chronic toxic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1333048 semapv:UnspecifiedMatching +DOID:7825 chronic toxic polyneuropathy oboInOwl:hasDbXref UMLS:C1333048 semapv:UnspecifiedMatching DOID:7826 adult papillary meningioma oboInOwl:hasDbXref NCI:C8293 semapv:UnspecifiedMatching -DOID:7826 adult papillary meningioma oboInOwl:hasDbXref UMLS_CUI:C0281334 semapv:UnspecifiedMatching +DOID:7826 adult papillary meningioma oboInOwl:hasDbXref UMLS:C0281334 semapv:UnspecifiedMatching DOID:7827 adult extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C7925 semapv:UnspecifiedMatching -DOID:7827 adult extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278985 semapv:UnspecifiedMatching +DOID:7827 adult extraosseous osteosarcoma oboInOwl:hasDbXref UMLS:C0278985 semapv:UnspecifiedMatching DOID:783 end stage renal disease oboInOwl:hasDbXref ICD9CM:585.6 semapv:UnspecifiedMatching DOID:7839 infiltrating nipple syringomatous adenoma oboInOwl:hasDbXref NCI:C40363 semapv:UnspecifiedMatching -DOID:7839 infiltrating nipple syringomatous adenoma oboInOwl:hasDbXref UMLS_CUI:C3839745 semapv:UnspecifiedMatching +DOID:7839 infiltrating nipple syringomatous adenoma oboInOwl:hasDbXref UMLS:C3839745 semapv:UnspecifiedMatching DOID:784 chronic kidney disease oboInOwl:hasDbXref ICD10CM:N18.9 semapv:UnspecifiedMatching DOID:784 chronic kidney disease oboInOwl:hasDbXref ICD9CM:585.6 semapv:UnspecifiedMatching DOID:784 chronic kidney disease oboInOwl:hasDbXref MESH:D007676 semapv:UnspecifiedMatching DOID:784 chronic kidney disease oboInOwl:hasDbXref NCI:C9438 semapv:UnspecifiedMatching -DOID:784 chronic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022661 semapv:UnspecifiedMatching +DOID:784 chronic kidney disease oboInOwl:hasDbXref UMLS:C0022661 semapv:UnspecifiedMatching DOID:7840 pancreatic non-functioning delta cell tumor oboInOwl:hasDbXref NCI:C28333 semapv:UnspecifiedMatching -DOID:7840 pancreatic non-functioning delta cell tumor oboInOwl:hasDbXref UMLS_CUI:C1335311 semapv:UnspecifiedMatching +DOID:7840 pancreatic non-functioning delta cell tumor oboInOwl:hasDbXref UMLS:C1335311 semapv:UnspecifiedMatching DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C115203 semapv:UnspecifiedMatching DOID:7843 female breast carcinoma oboInOwl:hasDbXref NCI:C2918 semapv:UnspecifiedMatching -DOID:7843 female breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007104 semapv:UnspecifiedMatching +DOID:7843 female breast carcinoma oboInOwl:hasDbXref UMLS:C0007104 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICDO:9757/3 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054739 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref NCI:C9282 semapv:UnspecifiedMatching -DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260326 semapv:UnspecifiedMatching +DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260326 semapv:UnspecifiedMatching DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref NCI:C27260 semapv:UnspecifiedMatching -DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1301364 semapv:UnspecifiedMatching -DOID:7851 pancreatic intraductal papillary-mucinous adenoma oboInOwl:hasDbXref UMLS_CUI:C1518868 semapv:UnspecifiedMatching +DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1301364 semapv:UnspecifiedMatching +DOID:7851 pancreatic intraductal papillary-mucinous adenoma oboInOwl:hasDbXref UMLS:C1518868 semapv:UnspecifiedMatching DOID:786 laryngeal disease oboInOwl:hasDbXref ICD10CM:S12.8 semapv:UnspecifiedMatching DOID:786 laryngeal disease oboInOwl:hasDbXref ICD9CM:478.70 semapv:UnspecifiedMatching DOID:786 laryngeal disease oboInOwl:hasDbXref MESH:D007818 semapv:UnspecifiedMatching DOID:786 laryngeal disease oboInOwl:hasDbXref NCI:C26810 semapv:UnspecifiedMatching -DOID:786 laryngeal disease oboInOwl:hasDbXref UMLS_CUI:C0023051 semapv:UnspecifiedMatching +DOID:786 laryngeal disease oboInOwl:hasDbXref UMLS:C0023051 semapv:UnspecifiedMatching DOID:7867 adult central nervous system germinoma oboInOwl:hasDbXref NCI:C5792 semapv:UnspecifiedMatching -DOID:7867 adult central nervous system germinoma oboInOwl:hasDbXref UMLS_CUI:C1370504 semapv:UnspecifiedMatching +DOID:7867 adult central nervous system germinoma oboInOwl:hasDbXref UMLS:C1370504 semapv:UnspecifiedMatching DOID:7868 maxillary sinus inverted papilloma oboInOwl:hasDbXref NCI:C6840 semapv:UnspecifiedMatching -DOID:7868 maxillary sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1334645 semapv:UnspecifiedMatching +DOID:7868 maxillary sinus inverted papilloma oboInOwl:hasDbXref UMLS:C1334645 semapv:UnspecifiedMatching DOID:7875 adult xanthogranuloma oboInOwl:hasDbXref NCI:C27514 semapv:UnspecifiedMatching -DOID:7875 adult xanthogranuloma oboInOwl:hasDbXref UMLS_CUI:C1332220 semapv:UnspecifiedMatching +DOID:7875 adult xanthogranuloma oboInOwl:hasDbXref UMLS:C1332220 semapv:UnspecifiedMatching DOID:7878 uterine corpus atypical polypoid adenomyoma oboInOwl:hasDbXref NCI:C40235 semapv:UnspecifiedMatching -DOID:7878 uterine corpus atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1519844 semapv:UnspecifiedMatching +DOID:7878 uterine corpus atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS:C1519844 semapv:UnspecifiedMatching DOID:7880 luteoma oboInOwl:hasDbXref ICDO:8610/0 semapv:UnspecifiedMatching DOID:7880 luteoma oboInOwl:hasDbXref NCI:C40445 semapv:UnspecifiedMatching -DOID:7880 luteoma oboInOwl:hasDbXref UMLS_CUI:C1517842 semapv:UnspecifiedMatching +DOID:7880 luteoma oboInOwl:hasDbXref UMLS:C1517842 semapv:UnspecifiedMatching DOID:7894 mite infestation oboInOwl:hasDbXref ICD10CM:B88.9 semapv:UnspecifiedMatching DOID:7894 mite infestation oboInOwl:hasDbXref ICD9CM:133 semapv:UnspecifiedMatching DOID:7894 mite infestation oboInOwl:hasDbXref MESH:D008924 semapv:UnspecifiedMatching -DOID:7894 mite infestation oboInOwl:hasDbXref UMLS_CUI:C0026229 semapv:UnspecifiedMatching +DOID:7894 mite infestation oboInOwl:hasDbXref UMLS:C0026229 semapv:UnspecifiedMatching DOID:790 ocular hypotension oboInOwl:hasDbXref ICD10CM:H44.4 semapv:UnspecifiedMatching DOID:790 ocular hypotension oboInOwl:hasDbXref ICD9CM:360.3 semapv:UnspecifiedMatching DOID:790 ocular hypotension oboInOwl:hasDbXref MESH:D015814 semapv:UnspecifiedMatching DOID:790 ocular hypotension oboInOwl:hasDbXref NCI:C172147 semapv:UnspecifiedMatching -DOID:790 ocular hypotension oboInOwl:hasDbXref UMLS_CUI:C0028841 semapv:UnspecifiedMatching +DOID:790 ocular hypotension oboInOwl:hasDbXref UMLS:C0028841 semapv:UnspecifiedMatching DOID:7902 adult extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C7924 semapv:UnspecifiedMatching -DOID:7902 adult extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1706731 semapv:UnspecifiedMatching +DOID:7902 adult extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1706731 semapv:UnspecifiedMatching DOID:7903 intracranial chondrosarcoma oboInOwl:hasDbXref NCI:C5462 semapv:UnspecifiedMatching -DOID:7903 intracranial chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334238 semapv:UnspecifiedMatching +DOID:7903 intracranial chondrosarcoma oboInOwl:hasDbXref UMLS:C1334238 semapv:UnspecifiedMatching DOID:7907 mixed astrocytoma-ependymoma oboInOwl:hasDbXref NCI:C8271 semapv:UnspecifiedMatching -DOID:7907 mixed astrocytoma-ependymoma oboInOwl:hasDbXref UMLS_CUI:C0280791 semapv:UnspecifiedMatching +DOID:7907 mixed astrocytoma-ependymoma oboInOwl:hasDbXref UMLS:C0280791 semapv:UnspecifiedMatching DOID:7910 maxillary sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6064 semapv:UnspecifiedMatching -DOID:7910 maxillary sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334647 semapv:UnspecifiedMatching +DOID:7910 maxillary sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1334647 semapv:UnspecifiedMatching DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref NCI:C4050 semapv:UnspecifiedMatching -DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280793 semapv:UnspecifiedMatching +DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref UMLS:C0280793 semapv:UnspecifiedMatching DOID:7915 cervical spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5296 semapv:UnspecifiedMatching -DOID:7915 cervical spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1332916 semapv:UnspecifiedMatching +DOID:7915 cervical spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS:C1332916 semapv:UnspecifiedMatching DOID:7921 mediastinal psammomatous neurilemmoma oboInOwl:hasDbXref NCI:C6636 semapv:UnspecifiedMatching -DOID:7921 mediastinal psammomatous neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1332513 semapv:UnspecifiedMatching +DOID:7921 mediastinal psammomatous neurilemmoma oboInOwl:hasDbXref UMLS:C1332513 semapv:UnspecifiedMatching DOID:7922 obsolete benign mediastinal neurilemmoma oboInOwl:hasDbXref NCI:C6625 semapv:UnspecifiedMatching DOID:7926 epithelial malignant thymoma oboInOwl:hasDbXref NCI:C7997 semapv:UnspecifiedMatching -DOID:7926 epithelial malignant thymoma oboInOwl:hasDbXref UMLS_CUI:C0279705 semapv:UnspecifiedMatching +DOID:7926 epithelial malignant thymoma oboInOwl:hasDbXref UMLS:C0279705 semapv:UnspecifiedMatching DOID:7927 malignant type A thymoma oboInOwl:hasDbXref NCI:C7999 semapv:UnspecifiedMatching -DOID:7927 malignant type A thymoma oboInOwl:hasDbXref UMLS_CUI:C0279707 semapv:UnspecifiedMatching +DOID:7927 malignant type A thymoma oboInOwl:hasDbXref UMLS:C0279707 semapv:UnspecifiedMatching DOID:7928 testis refractory cancer oboInOwl:hasDbXref NCI:C9077 semapv:UnspecifiedMatching -DOID:7928 testis refractory cancer oboInOwl:hasDbXref UMLS_CUI:C1377904 semapv:UnspecifiedMatching +DOID:7928 testis refractory cancer oboInOwl:hasDbXref UMLS:C1377904 semapv:UnspecifiedMatching DOID:7930 glandular-alveolar pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39926 semapv:UnspecifiedMatching -DOID:7930 glandular-alveolar pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515305 semapv:UnspecifiedMatching +DOID:7930 glandular-alveolar pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515305 semapv:UnspecifiedMatching DOID:7936 refractory T lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8696 semapv:UnspecifiedMatching -DOID:7936 refractory T lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS_CUI:C0854859 semapv:UnspecifiedMatching +DOID:7936 refractory T lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0854859 semapv:UnspecifiedMatching DOID:7941 Barrett's adenocarcinoma oboInOwl:hasDbXref NCI:C7027 semapv:UnspecifiedMatching -DOID:7941 Barrett's adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332460 semapv:UnspecifiedMatching +DOID:7941 Barrett's adenocarcinoma oboInOwl:hasDbXref UMLS:C1332460 semapv:UnspecifiedMatching DOID:7945 adult central nervous system mixed germ cell tumor oboInOwl:hasDbXref NCI:C27402 semapv:UnspecifiedMatching -DOID:7945 adult central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332195 semapv:UnspecifiedMatching +DOID:7945 adult central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS:C1332195 semapv:UnspecifiedMatching DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42060 semapv:UnspecifiedMatching -DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1516761 semapv:UnspecifiedMatching +DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1516761 semapv:UnspecifiedMatching DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42059 semapv:UnspecifiedMatching -DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1516760 semapv:UnspecifiedMatching +DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1516760 semapv:UnspecifiedMatching DOID:7953 nipple duct carcinoma oboInOwl:hasDbXref NCI:C27234 semapv:UnspecifiedMatching -DOID:7953 nipple duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334967 semapv:UnspecifiedMatching +DOID:7953 nipple duct carcinoma oboInOwl:hasDbXref UMLS:C1334967 semapv:UnspecifiedMatching DOID:7958 sarcomatoid penile squamous cell carcinoma oboInOwl:hasDbXref NCI:C6984 semapv:UnspecifiedMatching -DOID:7958 sarcomatoid penile squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335923 semapv:UnspecifiedMatching +DOID:7958 sarcomatoid penile squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1335923 semapv:UnspecifiedMatching DOID:7959 duodenal gastrinoma oboInOwl:hasDbXref NCI:C5731 semapv:UnspecifiedMatching -DOID:7959 duodenal gastrinoma oboInOwl:hasDbXref UMLS_CUI:C1333321 semapv:UnspecifiedMatching +DOID:7959 duodenal gastrinoma oboInOwl:hasDbXref UMLS:C1333321 semapv:UnspecifiedMatching DOID:7960 malignant spiradenoma oboInOwl:hasDbXref NCI:C5117 semapv:UnspecifiedMatching -DOID:7960 malignant spiradenoma oboInOwl:hasDbXref UMLS_CUI:C1266063 semapv:UnspecifiedMatching +DOID:7960 malignant spiradenoma oboInOwl:hasDbXref UMLS:C1266063 semapv:UnspecifiedMatching DOID:7961 cervical non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40188 semapv:UnspecifiedMatching -DOID:7961 cervical non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518366 semapv:UnspecifiedMatching +DOID:7961 cervical non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1518366 semapv:UnspecifiedMatching DOID:7962 tamoxifen-related endometrial lesion oboInOwl:hasDbXref NCI:C40159 semapv:UnspecifiedMatching -DOID:7962 tamoxifen-related endometrial lesion oboInOwl:hasDbXref UMLS_CUI:C1515212 semapv:UnspecifiedMatching +DOID:7962 tamoxifen-related endometrial lesion oboInOwl:hasDbXref UMLS:C1515212 semapv:UnspecifiedMatching DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39828 semapv:UnspecifiedMatching -DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512738 semapv:UnspecifiedMatching +DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1512738 semapv:UnspecifiedMatching DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39823 semapv:UnspecifiedMatching -DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512742 semapv:UnspecifiedMatching +DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1512742 semapv:UnspecifiedMatching DOID:7969 nested variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39819 semapv:UnspecifiedMatching -DOID:7969 nested variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512741 semapv:UnspecifiedMatching +DOID:7969 nested variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1512741 semapv:UnspecifiedMatching DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39820 semapv:UnspecifiedMatching -DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512740 semapv:UnspecifiedMatching +DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1512740 semapv:UnspecifiedMatching DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39822 semapv:UnspecifiedMatching -DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512739 semapv:UnspecifiedMatching +DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS:C1512739 semapv:UnspecifiedMatching DOID:7983 breast malignant eccrine spiradenoma oboInOwl:hasDbXref NCI:C5180 semapv:UnspecifiedMatching -DOID:7983 breast malignant eccrine spiradenoma oboInOwl:hasDbXref UMLS_CUI:C1334565 semapv:UnspecifiedMatching +DOID:7983 breast malignant eccrine spiradenoma oboInOwl:hasDbXref UMLS:C1334565 semapv:UnspecifiedMatching DOID:7984 sclerosing breast papilloma oboInOwl:hasDbXref NCI:C27944 semapv:UnspecifiedMatching -DOID:7984 sclerosing breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1335932 semapv:UnspecifiedMatching +DOID:7984 sclerosing breast papilloma oboInOwl:hasDbXref UMLS:C1335932 semapv:UnspecifiedMatching DOID:7986 cerebral falx meningioma oboInOwl:hasDbXref NCI:C5267 semapv:UnspecifiedMatching -DOID:7986 cerebral falx meningioma oboInOwl:hasDbXref UMLS_CUI:C1333597 semapv:UnspecifiedMatching +DOID:7986 cerebral falx meningioma oboInOwl:hasDbXref UMLS:C1333597 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref ICD10CM:I83.90 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref MESH:D014648 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref NCI:C35114 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref OMIM:192200 semapv:UnspecifiedMatching -DOID:799 varicose veins oboInOwl:hasDbXref UMLS_CUI:C0042345 semapv:UnspecifiedMatching +DOID:799 varicose veins oboInOwl:hasDbXref UMLS:C0042345 semapv:UnspecifiedMatching DOID:799 varicose veins skos:exactMatch OMIM:192200 semapv:UnspecifiedMatching DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref NCI:C7002 semapv:UnspecifiedMatching -DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335150 semapv:UnspecifiedMatching +DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref UMLS:C1335150 semapv:UnspecifiedMatching DOID:7996 familial glomangioma oboInOwl:hasDbXref NCI:C5350 semapv:UnspecifiedMatching -DOID:7996 familial glomangioma oboInOwl:hasDbXref UMLS_CUI:C1333987 semapv:UnspecifiedMatching +DOID:7996 familial glomangioma oboInOwl:hasDbXref UMLS:C1333987 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref ICD10CM:E05.9 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref ICD9CM:242 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref MESH:D013971 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref NCI:C61469 semapv:UnspecifiedMatching -DOID:7997 thyrotoxicosis oboInOwl:hasDbXref UMLS_CUI:C0040156 semapv:UnspecifiedMatching +DOID:7997 thyrotoxicosis oboInOwl:hasDbXref UMLS:C0040156 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism oboInOwl:hasDbXref ICD10CM:E05.9 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism oboInOwl:hasDbXref MESH:D006980 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism oboInOwl:hasDbXref NCI:C113145 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism oboInOwl:hasDbXref NCI:C3123 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS_CUI:C0020550 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS_CUI:C3714618 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS:C0020550 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS:C3714618 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism skos:exactMatch MESH:D006980 semapv:UnspecifiedMatching DOID:8000 frontal convexity meningioma oboInOwl:hasDbXref NCI:C5292 semapv:UnspecifiedMatching -DOID:8000 frontal convexity meningioma oboInOwl:hasDbXref UMLS_CUI:C1333643 semapv:UnspecifiedMatching +DOID:8000 frontal convexity meningioma oboInOwl:hasDbXref UMLS:C1333643 semapv:UnspecifiedMatching DOID:8002 supraglottis neoplasm oboInOwl:hasDbXref NCI:C6793 semapv:UnspecifiedMatching -DOID:8002 supraglottis neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345726 semapv:UnspecifiedMatching +DOID:8002 supraglottis neoplasm oboInOwl:hasDbXref UMLS:C0345726 semapv:UnspecifiedMatching DOID:8003 alveoli adenoma oboInOwl:hasDbXref NCI:C4140 semapv:UnspecifiedMatching -DOID:8003 alveoli adenoma oboInOwl:hasDbXref UMLS_CUI:C0334303 semapv:UnspecifiedMatching +DOID:8003 alveoli adenoma oboInOwl:hasDbXref UMLS:C0334303 semapv:UnspecifiedMatching DOID:8006 skin meningioma oboInOwl:hasDbXref NCI:C5277 semapv:UnspecifiedMatching -DOID:8006 skin meningioma oboInOwl:hasDbXref UMLS_CUI:C1335481 semapv:UnspecifiedMatching +DOID:8006 skin meningioma oboInOwl:hasDbXref UMLS:C1335481 semapv:UnspecifiedMatching DOID:8007 Pancoast tumor oboInOwl:hasDbXref MESH:D010178 semapv:UnspecifiedMatching DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C27710 semapv:UnspecifiedMatching DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C55815 semapv:UnspecifiedMatching DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C7527 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C0030271 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C0549471 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C1335574 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS:C0030271 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS:C0549471 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS:C1335574 semapv:UnspecifiedMatching DOID:8009 penis mixed squamous cell carcinoma oboInOwl:hasDbXref NCI:C39959 semapv:UnspecifiedMatching -DOID:8009 penis mixed squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513369 semapv:UnspecifiedMatching +DOID:8009 penis mixed squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1513369 semapv:UnspecifiedMatching DOID:801 hemarthrosis oboInOwl:hasDbXref ICD10CM:M25.0 semapv:UnspecifiedMatching DOID:801 hemarthrosis oboInOwl:hasDbXref ICD9CM:719.1 semapv:UnspecifiedMatching DOID:801 hemarthrosis oboInOwl:hasDbXref MESH:D006395 semapv:UnspecifiedMatching -DOID:801 hemarthrosis oboInOwl:hasDbXref UMLS_CUI:C0018924 semapv:UnspecifiedMatching +DOID:801 hemarthrosis oboInOwl:hasDbXref UMLS:C0018924 semapv:UnspecifiedMatching DOID:8012 benign pericardial teratoma oboInOwl:hasDbXref NCI:C6744 semapv:UnspecifiedMatching -DOID:8012 benign pericardial teratoma oboInOwl:hasDbXref UMLS_CUI:C1334638 semapv:UnspecifiedMatching +DOID:8012 benign pericardial teratoma oboInOwl:hasDbXref UMLS:C1334638 semapv:UnspecifiedMatching DOID:8013 penis papillary carcinoma oboInOwl:hasDbXref NCI:C6983 semapv:UnspecifiedMatching -DOID:8013 penis papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335322 semapv:UnspecifiedMatching +DOID:8013 penis papillary carcinoma oboInOwl:hasDbXref UMLS:C1335322 semapv:UnspecifiedMatching DOID:8020 glomangiomyoma oboInOwl:hasDbXref ICDO:8713/0 semapv:UnspecifiedMatching DOID:8020 glomangiomyoma oboInOwl:hasDbXref NCI:C4223 semapv:UnspecifiedMatching -DOID:8020 glomangiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334422 semapv:UnspecifiedMatching +DOID:8020 glomangiomyoma oboInOwl:hasDbXref UMLS:C0334422 semapv:UnspecifiedMatching DOID:8022 liver fibrosarcoma oboInOwl:hasDbXref NCI:C5832 semapv:UnspecifiedMatching -DOID:8022 liver fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333966 semapv:UnspecifiedMatching +DOID:8022 liver fibrosarcoma oboInOwl:hasDbXref UMLS:C1333966 semapv:UnspecifiedMatching DOID:8023 myxoid liposarcoma of the ovary oboInOwl:hasDbXref NCI:C5235 semapv:UnspecifiedMatching -DOID:8023 myxoid liposarcoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1335170 semapv:UnspecifiedMatching +DOID:8023 myxoid liposarcoma of the ovary oboInOwl:hasDbXref UMLS:C1335170 semapv:UnspecifiedMatching DOID:8025 gastric signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5250 semapv:UnspecifiedMatching -DOID:8025 gastric signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335965 semapv:UnspecifiedMatching +DOID:8025 gastric signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1335965 semapv:UnspecifiedMatching DOID:8029 sporadic breast cancer oboInOwl:hasDbXref NCI:C7566 semapv:UnspecifiedMatching -DOID:8029 sporadic breast cancer oboInOwl:hasDbXref UMLS_CUI:C1336076 semapv:UnspecifiedMatching +DOID:8029 sporadic breast cancer oboInOwl:hasDbXref UMLS:C1336076 semapv:UnspecifiedMatching DOID:8030 periocular meningioma oboInOwl:hasDbXref NCI:C6777 semapv:UnspecifiedMatching -DOID:8030 periocular meningioma oboInOwl:hasDbXref UMLS_CUI:C1335383 semapv:UnspecifiedMatching +DOID:8030 periocular meningioma oboInOwl:hasDbXref UMLS:C1335383 semapv:UnspecifiedMatching DOID:8031 pineal region meningioma oboInOwl:hasDbXref NCI:C6756 semapv:UnspecifiedMatching -DOID:8031 pineal region meningioma oboInOwl:hasDbXref UMLS_CUI:C1335418 semapv:UnspecifiedMatching +DOID:8031 pineal region meningioma oboInOwl:hasDbXref UMLS:C1335418 semapv:UnspecifiedMatching DOID:8036 childhood ovarian embryonal carcinoma oboInOwl:hasDbXref NCI:C6546 semapv:UnspecifiedMatching -DOID:8036 childhood ovarian embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332989 semapv:UnspecifiedMatching +DOID:8036 childhood ovarian embryonal carcinoma oboInOwl:hasDbXref UMLS:C1332989 semapv:UnspecifiedMatching DOID:8042 testis polyembryoma oboInOwl:hasDbXref NCI:C40962 semapv:UnspecifiedMatching -DOID:8042 testis polyembryoma oboInOwl:hasDbXref UMLS_CUI:C1514200 semapv:UnspecifiedMatching +DOID:8042 testis polyembryoma oboInOwl:hasDbXref UMLS:C1514200 semapv:UnspecifiedMatching DOID:8043 chest wall parachordoma oboInOwl:hasDbXref NCI:C6720 semapv:UnspecifiedMatching -DOID:8043 chest wall parachordoma oboInOwl:hasDbXref UMLS_CUI:C1332934 semapv:UnspecifiedMatching +DOID:8043 chest wall parachordoma oboInOwl:hasDbXref UMLS:C1332934 semapv:UnspecifiedMatching DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C39847 semapv:UnspecifiedMatching -DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511203 semapv:UnspecifiedMatching +DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1511203 semapv:UnspecifiedMatching DOID:8051 bladder papillary clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C39848 semapv:UnspecifiedMatching -DOID:8051 bladder papillary clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511196 semapv:UnspecifiedMatching +DOID:8051 bladder papillary clear cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1511196 semapv:UnspecifiedMatching DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref NCI:C6771 semapv:UnspecifiedMatching -DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref UMLS_CUI:C1335107 semapv:UnspecifiedMatching +DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref UMLS:C1335107 semapv:UnspecifiedMatching DOID:8058 pituitary stalk meningioma oboInOwl:hasDbXref NCI:C5311 semapv:UnspecifiedMatching -DOID:8058 pituitary stalk meningioma oboInOwl:hasDbXref UMLS_CUI:C1335422 semapv:UnspecifiedMatching +DOID:8058 pituitary stalk meningioma oboInOwl:hasDbXref UMLS:C1335422 semapv:UnspecifiedMatching DOID:8060 frontal sinus inverted papilloma oboInOwl:hasDbXref NCI:C6842 semapv:UnspecifiedMatching -DOID:8060 frontal sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1333644 semapv:UnspecifiedMatching +DOID:8060 frontal sinus inverted papilloma oboInOwl:hasDbXref UMLS:C1333644 semapv:UnspecifiedMatching DOID:8068 intraductal breast myoepitheliosis oboInOwl:hasDbXref NCI:C40387 semapv:UnspecifiedMatching -DOID:8068 intraductal breast myoepitheliosis oboInOwl:hasDbXref UMLS_CUI:C1512935 semapv:UnspecifiedMatching +DOID:8068 intraductal breast myoepitheliosis oboInOwl:hasDbXref UMLS:C1512935 semapv:UnspecifiedMatching DOID:807 carotid artery occlusion oboInOwl:hasDbXref ICD9CM:433.10 semapv:UnspecifiedMatching -DOID:807 carotid artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0375275 semapv:UnspecifiedMatching +DOID:807 carotid artery occlusion oboInOwl:hasDbXref UMLS:C0375275 semapv:UnspecifiedMatching DOID:8072 sarcomatous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C41620 semapv:UnspecifiedMatching -DOID:8072 sarcomatous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519184 semapv:UnspecifiedMatching +DOID:8072 sarcomatous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS:C1519184 semapv:UnspecifiedMatching DOID:8078 childhood central nervous system germinoma oboInOwl:hasDbXref NCI:C27406 semapv:UnspecifiedMatching -DOID:8078 childhood central nervous system germinoma oboInOwl:hasDbXref UMLS_CUI:C1332953 semapv:UnspecifiedMatching +DOID:8078 childhood central nervous system germinoma oboInOwl:hasDbXref UMLS:C1332953 semapv:UnspecifiedMatching DOID:8081 myxomatous pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39929 semapv:UnspecifiedMatching -DOID:8081 myxomatous pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515309 semapv:UnspecifiedMatching +DOID:8081 myxomatous pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515309 semapv:UnspecifiedMatching DOID:8082 cellular congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C39815 semapv:UnspecifiedMatching -DOID:8082 cellular congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS_CUI:C1320471 semapv:UnspecifiedMatching +DOID:8082 cellular congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1320471 semapv:UnspecifiedMatching DOID:8083 classic congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C39814 semapv:UnspecifiedMatching -DOID:8083 classic congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS_CUI:C1516475 semapv:UnspecifiedMatching +DOID:8083 classic congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1516475 semapv:UnspecifiedMatching DOID:809 cocaine abuse oboInOwl:hasDbXref ICD10CM:F14.1 semapv:UnspecifiedMatching DOID:809 cocaine abuse oboInOwl:hasDbXref ICD9CM:305.6 semapv:UnspecifiedMatching DOID:809 cocaine abuse oboInOwl:hasDbXref MESH:D019970 semapv:UnspecifiedMatching -DOID:809 cocaine abuse oboInOwl:hasDbXref UMLS_CUI:C0009171 semapv:UnspecifiedMatching +DOID:809 cocaine abuse oboInOwl:hasDbXref UMLS:C0009171 semapv:UnspecifiedMatching DOID:8093 maxillary sinus Schneiderian papilloma oboInOwl:hasDbXref NCI:C6839 semapv:UnspecifiedMatching -DOID:8093 maxillary sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1334646 semapv:UnspecifiedMatching +DOID:8093 maxillary sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS:C1334646 semapv:UnspecifiedMatching DOID:8096 bladder mixed adenocarcinoma oboInOwl:hasDbXref NCI:C39839 semapv:UnspecifiedMatching -DOID:8096 bladder mixed adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511192 semapv:UnspecifiedMatching +DOID:8096 bladder mixed adenocarcinoma oboInOwl:hasDbXref UMLS:C1511192 semapv:UnspecifiedMatching DOID:8097 bladder hepatoid adenocarcinoma oboInOwl:hasDbXref NCI:C39838 semapv:UnspecifiedMatching -DOID:8097 bladder hepatoid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511189 semapv:UnspecifiedMatching +DOID:8097 bladder hepatoid adenocarcinoma oboInOwl:hasDbXref UMLS:C1511189 semapv:UnspecifiedMatching DOID:8102 fetal adenoma oboInOwl:hasDbXref NCI:C4160 semapv:UnspecifiedMatching -DOID:8102 fetal adenoma oboInOwl:hasDbXref UMLS_CUI:C0334328 semapv:UnspecifiedMatching +DOID:8102 fetal adenoma oboInOwl:hasDbXref UMLS:C0334328 semapv:UnspecifiedMatching DOID:8104 vaginal tubulovillous adenoma oboInOwl:hasDbXref NCI:C40258 semapv:UnspecifiedMatching -DOID:8104 vaginal tubulovillous adenoma oboInOwl:hasDbXref UMLS_CUI:C1519933 semapv:UnspecifiedMatching +DOID:8104 vaginal tubulovillous adenoma oboInOwl:hasDbXref UMLS:C1519933 semapv:UnspecifiedMatching DOID:8105 extrahepatic bile duct cystadenoma oboInOwl:hasDbXref NCI:C5851 semapv:UnspecifiedMatching -DOID:8105 extrahepatic bile duct cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1333504 semapv:UnspecifiedMatching +DOID:8105 extrahepatic bile duct cystadenoma oboInOwl:hasDbXref UMLS:C1333504 semapv:UnspecifiedMatching DOID:8106 cellular phase chronic idiopathic myelofibrosis oboInOwl:hasDbXref NCI:C41237 semapv:UnspecifiedMatching -DOID:8106 cellular phase chronic idiopathic myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C1516553 semapv:UnspecifiedMatching +DOID:8106 cellular phase chronic idiopathic myelofibrosis oboInOwl:hasDbXref UMLS:C1516553 semapv:UnspecifiedMatching DOID:8108 fibroepithelial polyp of urethra oboInOwl:hasDbXref NCI:C6170 semapv:UnspecifiedMatching -DOID:8108 fibroepithelial polyp of urethra oboInOwl:hasDbXref UMLS_CUI:C1336884 semapv:UnspecifiedMatching +DOID:8108 fibroepithelial polyp of urethra oboInOwl:hasDbXref UMLS:C1336884 semapv:UnspecifiedMatching DOID:8109 nephrogenic adenoma of the urethra oboInOwl:hasDbXref NCI:C7416 semapv:UnspecifiedMatching -DOID:8109 nephrogenic adenoma of the urethra oboInOwl:hasDbXref UMLS_CUI:C1336889 semapv:UnspecifiedMatching +DOID:8109 nephrogenic adenoma of the urethra oboInOwl:hasDbXref UMLS:C1336889 semapv:UnspecifiedMatching DOID:811 lipodystrophy oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching DOID:811 lipodystrophy oboInOwl:hasDbXref ICD9CM:272.6 semapv:UnspecifiedMatching DOID:811 lipodystrophy oboInOwl:hasDbXref MESH:D008060 semapv:UnspecifiedMatching DOID:811 lipodystrophy oboInOwl:hasDbXref NCI:C97093 semapv:UnspecifiedMatching -DOID:811 lipodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023787 semapv:UnspecifiedMatching +DOID:811 lipodystrophy oboInOwl:hasDbXref UMLS:C0023787 semapv:UnspecifiedMatching DOID:8110 periampullary adenocarcinoma oboInOwl:hasDbXref NCI:C27322 semapv:UnspecifiedMatching -DOID:8110 periampullary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335377 semapv:UnspecifiedMatching +DOID:8110 periampullary adenocarcinoma oboInOwl:hasDbXref UMLS:C1335377 semapv:UnspecifiedMatching DOID:8117 neuronitis oboInOwl:hasDbXref NCI:C34847 semapv:UnspecifiedMatching -DOID:8117 neuronitis oboInOwl:hasDbXref UMLS_CUI:C0027881 semapv:UnspecifiedMatching +DOID:8117 neuronitis oboInOwl:hasDbXref UMLS:C0027881 semapv:UnspecifiedMatching DOID:8118 mature gastric teratoma oboInOwl:hasDbXref NCI:C5260 semapv:UnspecifiedMatching -DOID:8118 mature gastric teratoma oboInOwl:hasDbXref UMLS_CUI:C1334635 semapv:UnspecifiedMatching +DOID:8118 mature gastric teratoma oboInOwl:hasDbXref UMLS:C1334635 semapv:UnspecifiedMatching DOID:8119 anal canal Paget's disease oboInOwl:hasDbXref NCI:C7477 semapv:UnspecifiedMatching -DOID:8119 anal canal Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1332261 semapv:UnspecifiedMatching +DOID:8119 anal canal Paget's disease oboInOwl:hasDbXref UMLS:C1332261 semapv:UnspecifiedMatching DOID:8122 pseudovascular skin squamous cell carcinoma oboInOwl:hasDbXref NCI:C27542 semapv:UnspecifiedMatching -DOID:8122 pseudovascular skin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335974 semapv:UnspecifiedMatching +DOID:8122 pseudovascular skin squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1335974 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD10CM:M92 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD10CM:M93.9 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD9CM:732.6 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref NCI:C34879 semapv:UnspecifiedMatching -DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS_CUI:C0029429 semapv:UnspecifiedMatching -DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS_CUI:C0158445 semapv:UnspecifiedMatching +DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS:C0029429 semapv:UnspecifiedMatching +DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS:C0158445 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref GARD:6781 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD10CM:M00 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.90 semapv:UnspecifiedMatching @@ -34861,41 +35174,41 @@ DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.96 semapv:UnspecifiedMat DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.97 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref MESH:D001170 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref NCI:C26700 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0003869 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157843 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157844 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157845 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157846 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157847 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157848 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157849 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0003869 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157843 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157844 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157845 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157846 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157847 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157848 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS:C0157849 semapv:UnspecifiedMatching DOID:8130 breast columnar cell mucinous carcinoma oboInOwl:hasDbXref NCI:C40355 semapv:UnspecifiedMatching -DOID:8130 breast columnar cell mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511305 semapv:UnspecifiedMatching +DOID:8130 breast columnar cell mucinous carcinoma oboInOwl:hasDbXref UMLS:C1511305 semapv:UnspecifiedMatching DOID:8133 epiglottis cancer oboInOwl:hasDbXref ICD10CM:C10.1 semapv:UnspecifiedMatching DOID:8133 epiglottis cancer oboInOwl:hasDbXref ICD9CM:146.4 semapv:UnspecifiedMatching DOID:8133 epiglottis cancer oboInOwl:hasDbXref NCI:C35697 semapv:UnspecifiedMatching DOID:8133 epiglottis cancer oboInOwl:hasDbXref NCI:C4836 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0496765 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0585946 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C1112382 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS:C0496765 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS:C0585946 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS:C1112382 semapv:UnspecifiedMatching DOID:8135 gallbladder lymphoma oboInOwl:hasDbXref NCI:C5734 semapv:UnspecifiedMatching -DOID:8135 gallbladder lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333748 semapv:UnspecifiedMatching +DOID:8135 gallbladder lymphoma oboInOwl:hasDbXref UMLS:C1333748 semapv:UnspecifiedMatching DOID:8137 thymus clear cell carcinoma oboInOwl:hasDbXref NCI:C6462 semapv:UnspecifiedMatching -DOID:8137 thymus clear cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333069 semapv:UnspecifiedMatching +DOID:8137 thymus clear cell carcinoma oboInOwl:hasDbXref UMLS:C1333069 semapv:UnspecifiedMatching DOID:8138 thymus sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C6463 semapv:UnspecifiedMatching -DOID:8138 thymus sarcomatoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335924 semapv:UnspecifiedMatching +DOID:8138 thymus sarcomatoid carcinoma oboInOwl:hasDbXref UMLS:C1335924 semapv:UnspecifiedMatching DOID:8140 adrenal gland ganglioneuroblastoma oboInOwl:hasDbXref NCI:C7646 semapv:UnspecifiedMatching -DOID:8140 adrenal gland ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1332176 semapv:UnspecifiedMatching +DOID:8140 adrenal gland ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C1332176 semapv:UnspecifiedMatching DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref NCI:C37204 semapv:UnspecifiedMatching -DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333038 semapv:UnspecifiedMatching +DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS:C1333038 semapv:UnspecifiedMatching DOID:8149 malignant childhood germ cell neoplasm oboInOwl:hasDbXref NCI:C6541 semapv:UnspecifiedMatching -DOID:8149 malignant childhood germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334574 semapv:UnspecifiedMatching +DOID:8149 malignant childhood germ cell neoplasm oboInOwl:hasDbXref UMLS:C1334574 semapv:UnspecifiedMatching DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref NCI:C5726 semapv:UnspecifiedMatching -DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518871 semapv:UnspecifiedMatching +DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref UMLS:C1518871 semapv:UnspecifiedMatching DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27445 semapv:UnspecifiedMatching -DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274138 semapv:UnspecifiedMatching +DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS:C3274138 semapv:UnspecifiedMatching DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref NCI:C6573 semapv:UnspecifiedMatching -DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref UMLS_CUI:C1333612 semapv:UnspecifiedMatching +DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref UMLS:C1333612 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref MESH:C537005 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref NCI:C9469 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching @@ -34904,189 +35217,189 @@ DOID:8158 complement component 5 deficiency skos:exactMatch OMIM:609536 semapv:U DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref MESH:C536913 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref NCI:C4946 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0749424 semapv:UnspecifiedMatching +DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref UMLS:C0749424 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma skos:exactMatch OMIM:607464 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref NCI:C6042 semapv:UnspecifiedMatching -DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref UMLS_CUI:C1336750 semapv:UnspecifiedMatching +DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref UMLS:C1336750 semapv:UnspecifiedMatching DOID:8167 gallbladder melanoma oboInOwl:hasDbXref NCI:C5735 semapv:UnspecifiedMatching -DOID:8167 gallbladder melanoma oboInOwl:hasDbXref UMLS_CUI:C1333749 semapv:UnspecifiedMatching +DOID:8167 gallbladder melanoma oboInOwl:hasDbXref UMLS:C1333749 semapv:UnspecifiedMatching DOID:817 interstitial myocarditis oboInOwl:hasDbXref NCI:C35786 semapv:UnspecifiedMatching -DOID:817 interstitial myocarditis oboInOwl:hasDbXref UMLS_CUI:C0027060 semapv:UnspecifiedMatching +DOID:817 interstitial myocarditis oboInOwl:hasDbXref UMLS:C0027060 semapv:UnspecifiedMatching DOID:8170 fibroepithelial polyp of the anus oboInOwl:hasDbXref NCI:C5604 semapv:UnspecifiedMatching DOID:8177 endocervical type cervical adenomyoma oboInOwl:hasDbXref NCI:C40232 semapv:UnspecifiedMatching -DOID:8177 endocervical type cervical adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1516405 semapv:UnspecifiedMatching +DOID:8177 endocervical type cervical adenomyoma oboInOwl:hasDbXref UMLS:C1516405 semapv:UnspecifiedMatching DOID:8178 endometrial type cervical adenomyoma oboInOwl:hasDbXref NCI:C40233 semapv:UnspecifiedMatching -DOID:8178 endometrial type cervical adenomyoma oboInOwl:hasDbXref UMLS_CUI:C5557432 semapv:UnspecifiedMatching +DOID:8178 endometrial type cervical adenomyoma oboInOwl:hasDbXref UMLS:C5557432 semapv:UnspecifiedMatching DOID:8179 cervical atypical polypoid adenomyoma oboInOwl:hasDbXref NCI:C40234 semapv:UnspecifiedMatching -DOID:8179 cervical atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1516409 semapv:UnspecifiedMatching +DOID:8179 cervical atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS:C1516409 semapv:UnspecifiedMatching DOID:8186 fallopian tube gestational choriocarcinoma oboInOwl:hasDbXref NCI:C6278 semapv:UnspecifiedMatching -DOID:8186 fallopian tube gestational choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333593 semapv:UnspecifiedMatching +DOID:8186 fallopian tube gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C1333593 semapv:UnspecifiedMatching DOID:8188 uterine corpus choriocarcinoma oboInOwl:hasDbXref NCI:C27246 semapv:UnspecifiedMatching -DOID:8188 uterine corpus choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336904 semapv:UnspecifiedMatching +DOID:8188 uterine corpus choriocarcinoma oboInOwl:hasDbXref UMLS:C1336904 semapv:UnspecifiedMatching DOID:819 mediastinitis oboInOwl:hasDbXref ICD10CM:J98.51 semapv:UnspecifiedMatching DOID:819 mediastinitis oboInOwl:hasDbXref ICD9CM:519.2 semapv:UnspecifiedMatching DOID:819 mediastinitis oboInOwl:hasDbXref MESH:D008480 semapv:UnspecifiedMatching DOID:819 mediastinitis oboInOwl:hasDbXref NCI:C26827 semapv:UnspecifiedMatching -DOID:819 mediastinitis oboInOwl:hasDbXref UMLS_CUI:C0025064 semapv:UnspecifiedMatching +DOID:819 mediastinitis oboInOwl:hasDbXref UMLS:C0025064 semapv:UnspecifiedMatching DOID:8193 papillary pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39928 semapv:UnspecifiedMatching -DOID:8193 papillary pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515310 semapv:UnspecifiedMatching +DOID:8193 papillary pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515310 semapv:UnspecifiedMatching DOID:8195 hepatoid pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39931 semapv:UnspecifiedMatching -DOID:8195 hepatoid pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515306 semapv:UnspecifiedMatching +DOID:8195 hepatoid pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515306 semapv:UnspecifiedMatching DOID:82 myotonic cataract oboInOwl:hasDbXref ICD9CM:366.43 semapv:UnspecifiedMatching DOID:82 myotonic cataract oboInOwl:hasDbXref NCI:C34833 semapv:UnspecifiedMatching -DOID:82 myotonic cataract oboInOwl:hasDbXref UMLS_CUI:C0027128 semapv:UnspecifiedMatching +DOID:82 myotonic cataract oboInOwl:hasDbXref UMLS:C0027128 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref GARD:7137 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref ICD10CM:I51.4 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref ICD9CM:429.0 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref KEGG:05416 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref MESH:D009205 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref NCI:C34831 semapv:UnspecifiedMatching -DOID:820 myocarditis oboInOwl:hasDbXref UMLS_CUI:C0027059 semapv:UnspecifiedMatching +DOID:820 myocarditis oboInOwl:hasDbXref UMLS:C0027059 semapv:UnspecifiedMatching DOID:820 myocarditis skos:exactMatch MESH:D009205 semapv:UnspecifiedMatching DOID:8200 tertiary syphilis oboInOwl:hasDbXref ICD10CM:A52 semapv:UnspecifiedMatching DOID:8200 tertiary syphilis oboInOwl:hasDbXref ICD9CM:097.0 semapv:UnspecifiedMatching DOID:8200 tertiary syphilis oboInOwl:hasDbXref MESH:C536774 semapv:UnspecifiedMatching DOID:8200 tertiary syphilis oboInOwl:hasDbXref NCI:C128414 semapv:UnspecifiedMatching -DOID:8200 tertiary syphilis oboInOwl:hasDbXref UMLS_CUI:C0153188 semapv:UnspecifiedMatching +DOID:8200 tertiary syphilis oboInOwl:hasDbXref UMLS:C0153188 semapv:UnspecifiedMatching DOID:8203 sacral spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5299 semapv:UnspecifiedMatching -DOID:8203 sacral spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1335893 semapv:UnspecifiedMatching +DOID:8203 sacral spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS:C1335893 semapv:UnspecifiedMatching DOID:8207 hilar lung carcinoma oboInOwl:hasDbXref NCI:C7454 semapv:UnspecifiedMatching -DOID:8207 hilar lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334445 semapv:UnspecifiedMatching +DOID:8207 hilar lung carcinoma oboInOwl:hasDbXref UMLS:C1334445 semapv:UnspecifiedMatching DOID:8208 lung superior sulcus carcinoma oboInOwl:hasDbXref NCI:C7779 semapv:UnspecifiedMatching -DOID:8208 lung superior sulcus carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336529 semapv:UnspecifiedMatching +DOID:8208 lung superior sulcus carcinoma oboInOwl:hasDbXref UMLS:C1336529 semapv:UnspecifiedMatching DOID:8211 fallopian tube cystadenofibroma oboInOwl:hasDbXref NCI:C40114 semapv:UnspecifiedMatching -DOID:8211 fallopian tube cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1517111 semapv:UnspecifiedMatching +DOID:8211 fallopian tube cystadenofibroma oboInOwl:hasDbXref UMLS:C1517111 semapv:UnspecifiedMatching DOID:8216 parapharyngeal meningioma oboInOwl:hasDbXref NCI:C5303 semapv:UnspecifiedMatching -DOID:8216 parapharyngeal meningioma oboInOwl:hasDbXref UMLS_CUI:C5421232 semapv:UnspecifiedMatching +DOID:8216 parapharyngeal meningioma oboInOwl:hasDbXref UMLS:C5421232 semapv:UnspecifiedMatching DOID:8221 upper clivus meningioma oboInOwl:hasDbXref NCI:C5290 semapv:UnspecifiedMatching -DOID:8221 upper clivus meningioma oboInOwl:hasDbXref UMLS_CUI:C1336871 semapv:UnspecifiedMatching +DOID:8221 upper clivus meningioma oboInOwl:hasDbXref UMLS:C1336871 semapv:UnspecifiedMatching DOID:8223 penile urethral cancer oboInOwl:hasDbXref NCI:C39868 semapv:UnspecifiedMatching -DOID:8223 penile urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1518950 semapv:UnspecifiedMatching +DOID:8223 penile urethral cancer oboInOwl:hasDbXref UMLS:C1518950 semapv:UnspecifiedMatching DOID:8224 central breast papilloma oboInOwl:hasDbXref NCI:C36087 semapv:UnspecifiedMatching -DOID:8224 central breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1332896 semapv:UnspecifiedMatching +DOID:8224 central breast papilloma oboInOwl:hasDbXref UMLS:C1332896 semapv:UnspecifiedMatching DOID:8225 microscopic breast papilloma oboInOwl:hasDbXref NCI:C36088 semapv:UnspecifiedMatching -DOID:8225 microscopic breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1335390 semapv:UnspecifiedMatching +DOID:8225 microscopic breast papilloma oboInOwl:hasDbXref UMLS:C1335390 semapv:UnspecifiedMatching DOID:8227 atypical breast papilloma oboInOwl:hasDbXref NCI:C36089 semapv:UnspecifiedMatching -DOID:8227 atypical breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1332346 semapv:UnspecifiedMatching +DOID:8227 atypical breast papilloma oboInOwl:hasDbXref UMLS:C1332346 semapv:UnspecifiedMatching DOID:823 periapical periodontitis oboInOwl:hasDbXref ICD10CM:K04.5 semapv:UnspecifiedMatching DOID:823 periapical periodontitis oboInOwl:hasDbXref MESH:D010485 semapv:UnspecifiedMatching -DOID:823 periapical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031030 semapv:UnspecifiedMatching +DOID:823 periapical periodontitis oboInOwl:hasDbXref UMLS:C0031030 semapv:UnspecifiedMatching DOID:8230 intrahepatic biliary papillomatosis oboInOwl:hasDbXref NCI:C7125 semapv:UnspecifiedMatching -DOID:8230 intrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334258 semapv:UnspecifiedMatching +DOID:8230 intrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS:C1334258 semapv:UnspecifiedMatching DOID:8233 inflammatory liposarcoma oboInOwl:hasDbXref NCI:C6508 semapv:UnspecifiedMatching -DOID:8233 inflammatory liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1370890 semapv:UnspecifiedMatching +DOID:8233 inflammatory liposarcoma oboInOwl:hasDbXref UMLS:C1370890 semapv:UnspecifiedMatching DOID:8239 lower clivus meningioma oboInOwl:hasDbXref NCI:C5288 semapv:UnspecifiedMatching -DOID:8239 lower clivus meningioma oboInOwl:hasDbXref UMLS_CUI:C1334434 semapv:UnspecifiedMatching +DOID:8239 lower clivus meningioma oboInOwl:hasDbXref UMLS:C1334434 semapv:UnspecifiedMatching DOID:824 periodontitis oboInOwl:hasDbXref EFO:0000649 semapv:UnspecifiedMatching DOID:824 periodontitis oboInOwl:hasDbXref ICD10CM:K05.3 semapv:UnspecifiedMatching DOID:824 periodontitis oboInOwl:hasDbXref MESH:D010518 semapv:UnspecifiedMatching DOID:824 periodontitis oboInOwl:hasDbXref NCI:C34918 semapv:UnspecifiedMatching -DOID:824 periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031099 semapv:UnspecifiedMatching +DOID:824 periodontitis oboInOwl:hasDbXref UMLS:C0031099 semapv:UnspecifiedMatching DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref ICDO:8728/3 semapv:UnspecifiedMatching DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref NCI:C6891 semapv:UnspecifiedMatching -DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref UMLS_CUI:C1266114 semapv:UnspecifiedMatching +DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref UMLS:C1266114 semapv:UnspecifiedMatching DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8901/3 semapv:UnspecifiedMatching DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C27369 semapv:UnspecifiedMatching -DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332211 semapv:UnspecifiedMatching +DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1332211 semapv:UnspecifiedMatching DOID:8252 chronic rhinitis oboInOwl:hasDbXref ICD10CM:J31.0 semapv:UnspecifiedMatching DOID:8252 chronic rhinitis oboInOwl:hasDbXref ICD9CM:472.0 semapv:UnspecifiedMatching DOID:8252 chronic rhinitis oboInOwl:hasDbXref NCI:C34479 semapv:UnspecifiedMatching -DOID:8252 chronic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0008711 semapv:UnspecifiedMatching +DOID:8252 chronic rhinitis oboInOwl:hasDbXref UMLS:C0008711 semapv:UnspecifiedMatching DOID:8255 vulva fibroepithelial polyp oboInOwl:hasDbXref NCI:C6857 semapv:UnspecifiedMatching -DOID:8255 vulva fibroepithelial polyp oboInOwl:hasDbXref UMLS_CUI:C1336978 semapv:UnspecifiedMatching +DOID:8255 vulva fibroepithelial polyp oboInOwl:hasDbXref UMLS:C1336978 semapv:UnspecifiedMatching DOID:8259 bulbomembranous urethral cancer oboInOwl:hasDbXref NCI:C39869 semapv:UnspecifiedMatching -DOID:8259 bulbomembranous urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1511339 semapv:UnspecifiedMatching +DOID:8259 bulbomembranous urethral cancer oboInOwl:hasDbXref UMLS:C1511339 semapv:UnspecifiedMatching DOID:827 ureter tuberculosis oboInOwl:hasDbXref ICD9CM:016.2 semapv:UnspecifiedMatching -DOID:827 ureter tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152800 semapv:UnspecifiedMatching +DOID:827 ureter tuberculosis oboInOwl:hasDbXref UMLS:C0152800 semapv:UnspecifiedMatching DOID:8272 anterior urethra cancer oboInOwl:hasDbXref NCI:C7641 semapv:UnspecifiedMatching -DOID:8272 anterior urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0279930 semapv:UnspecifiedMatching +DOID:8272 anterior urethra cancer oboInOwl:hasDbXref UMLS:C0279930 semapv:UnspecifiedMatching DOID:8274 synovial angioma oboInOwl:hasDbXref NCI:C6525 semapv:UnspecifiedMatching -DOID:8274 synovial angioma oboInOwl:hasDbXref UMLS_CUI:C1336546 semapv:UnspecifiedMatching +DOID:8274 synovial angioma oboInOwl:hasDbXref UMLS:C1336546 semapv:UnspecifiedMatching DOID:8275 intratubular embryonal carcinoma oboInOwl:hasDbXref NCI:C7325 semapv:UnspecifiedMatching -DOID:8275 intratubular embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336096 semapv:UnspecifiedMatching +DOID:8275 intratubular embryonal carcinoma oboInOwl:hasDbXref UMLS:C1336096 semapv:UnspecifiedMatching DOID:8282 adult epithelioid sarcoma oboInOwl:hasDbXref NCI:C7944 semapv:UnspecifiedMatching -DOID:8282 adult epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279545 semapv:UnspecifiedMatching +DOID:8282 adult epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0279545 semapv:UnspecifiedMatching DOID:8283 peritonitis oboInOwl:hasDbXref ICD9CM:567.8 semapv:UnspecifiedMatching -DOID:8283 peritonitis oboInOwl:hasDbXref UMLS_CUI:C0029823 semapv:UnspecifiedMatching +DOID:8283 peritonitis oboInOwl:hasDbXref UMLS:C0029823 semapv:UnspecifiedMatching DOID:8288 clear cell squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C4459 semapv:UnspecifiedMatching -DOID:8288 clear cell squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345978 semapv:UnspecifiedMatching +DOID:8288 clear cell squamous cell skin carcinoma oboInOwl:hasDbXref UMLS:C0345978 semapv:UnspecifiedMatching DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref ICDO:8330/1 semapv:UnspecifiedMatching DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref NCI:C27729 semapv:UnspecifiedMatching -DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref UMLS_CUI:C1266046 semapv:UnspecifiedMatching +DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref UMLS:C1266046 semapv:UnspecifiedMatching DOID:8295 scabies oboInOwl:hasDbXref ICD10CM:B86 semapv:UnspecifiedMatching DOID:8295 scabies oboInOwl:hasDbXref ICD9CM:133.0 semapv:UnspecifiedMatching DOID:8295 scabies oboInOwl:hasDbXref MESH:D012532 semapv:UnspecifiedMatching DOID:8295 scabies oboInOwl:hasDbXref NCI:C34998 semapv:UnspecifiedMatching -DOID:8295 scabies oboInOwl:hasDbXref UMLS_CUI:C0036262 semapv:UnspecifiedMatching +DOID:8295 scabies oboInOwl:hasDbXref UMLS:C0036262 semapv:UnspecifiedMatching DOID:8295 scabies skos:exactMatch MESH:D012532 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref ICD10CM:H26 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref ICD9CM:366.8 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref OMIM:601371 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref OMIMPS:116200 semapv:UnspecifiedMatching -DOID:83 cataract oboInOwl:hasDbXref UMLS_CUI:C0029531 semapv:UnspecifiedMatching +DOID:83 cataract oboInOwl:hasDbXref UMLS:C0029531 semapv:UnspecifiedMatching DOID:83 cataract skos:exactMatch MESH:D002386 semapv:UnspecifiedMatching DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref NCI:C40178 semapv:UnspecifiedMatching -DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref UMLS_CUI:C1513364 semapv:UnspecifiedMatching +DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref UMLS:C1513364 semapv:UnspecifiedMatching DOID:8304 lymph node palisaded myofibroblastoma oboInOwl:hasDbXref NCI:C6584 semapv:UnspecifiedMatching -DOID:8304 lymph node palisaded myofibroblastoma oboInOwl:hasDbXref UMLS_CUI:C1335295 semapv:UnspecifiedMatching +DOID:8304 lymph node palisaded myofibroblastoma oboInOwl:hasDbXref UMLS:C1335295 semapv:UnspecifiedMatching DOID:8305 nonossifying fibromyxoid tumor oboInOwl:hasDbXref NCI:C6583 semapv:UnspecifiedMatching -DOID:8305 nonossifying fibromyxoid tumor oboInOwl:hasDbXref UMLS_CUI:C1335063 semapv:UnspecifiedMatching +DOID:8305 nonossifying fibromyxoid tumor oboInOwl:hasDbXref UMLS:C1335063 semapv:UnspecifiedMatching DOID:8307 early invasive cervical adenocarcinoma oboInOwl:hasDbXref NCI:C36096 semapv:UnspecifiedMatching -DOID:8307 early invasive cervical adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333369 semapv:UnspecifiedMatching +DOID:8307 early invasive cervical adenocarcinoma oboInOwl:hasDbXref UMLS:C1333369 semapv:UnspecifiedMatching DOID:8310 sclerosing adenosis of breast oboInOwl:hasDbXref NCI:C5205 semapv:UnspecifiedMatching -DOID:8310 sclerosing adenosis of breast oboInOwl:hasDbXref UMLS_CUI:C1335931 semapv:UnspecifiedMatching +DOID:8310 sclerosing adenosis of breast oboInOwl:hasDbXref UMLS:C1335931 semapv:UnspecifiedMatching DOID:833 auditory system cancer oboInOwl:hasDbXref MESH:D004428 semapv:UnspecifiedMatching DOID:833 auditory system cancer oboInOwl:hasDbXref NCI:C3000 semapv:UnspecifiedMatching -DOID:833 auditory system cancer oboInOwl:hasDbXref UMLS_CUI:C0013449 semapv:UnspecifiedMatching +DOID:833 auditory system cancer oboInOwl:hasDbXref UMLS:C0013449 semapv:UnspecifiedMatching DOID:8331 perineural angioma oboInOwl:hasDbXref NCI:C6526 semapv:UnspecifiedMatching -DOID:8331 perineural angioma oboInOwl:hasDbXref UMLS_CUI:C1335382 semapv:UnspecifiedMatching +DOID:8331 perineural angioma oboInOwl:hasDbXref UMLS:C1335382 semapv:UnspecifiedMatching DOID:8335 microglandular adenosis of breast oboInOwl:hasDbXref NCI:C5199 semapv:UnspecifiedMatching -DOID:8335 microglandular adenosis of breast oboInOwl:hasDbXref UMLS_CUI:C1334753 semapv:UnspecifiedMatching +DOID:8335 microglandular adenosis of breast oboInOwl:hasDbXref UMLS:C1334753 semapv:UnspecifiedMatching DOID:8336 childhood choriocarcinoma of the ovary oboInOwl:hasDbXref NCI:C6549 semapv:UnspecifiedMatching -DOID:8336 childhood choriocarcinoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1332987 semapv:UnspecifiedMatching +DOID:8336 childhood choriocarcinoma of the ovary oboInOwl:hasDbXref UMLS:C1332987 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref ICD10CM:K37 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref ICD9CM:540-543.99 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref MESH:D001064 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref NCI:C35145 semapv:UnspecifiedMatching -DOID:8337 appendicitis oboInOwl:hasDbXref UMLS_CUI:C0003615 semapv:UnspecifiedMatching +DOID:8337 appendicitis oboInOwl:hasDbXref UMLS:C0003615 semapv:UnspecifiedMatching DOID:8338 villoglandular variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40208 semapv:UnspecifiedMatching -DOID:8338 villoglandular variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C4289808 semapv:UnspecifiedMatching +DOID:8338 villoglandular variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C4289808 semapv:UnspecifiedMatching DOID:8339 intestinal variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40203 semapv:UnspecifiedMatching -DOID:8339 intestinal variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516422 semapv:UnspecifiedMatching +DOID:8339 intestinal variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1516422 semapv:UnspecifiedMatching DOID:8340 endocervical type cervical mucinous adenocarcinoma oboInOwl:hasDbXref ICDO:8482/3 semapv:UnspecifiedMatching -DOID:8340 endocervical type cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266079 semapv:UnspecifiedMatching +DOID:8340 endocervical type cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS:C1266079 semapv:UnspecifiedMatching DOID:8352 aortic malignant tumor oboInOwl:hasDbXref NCI:C5375 semapv:UnspecifiedMatching -DOID:8352 aortic malignant tumor oboInOwl:hasDbXref UMLS_CUI:C1334560 semapv:UnspecifiedMatching +DOID:8352 aortic malignant tumor oboInOwl:hasDbXref UMLS:C1334560 semapv:UnspecifiedMatching DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C6561 semapv:UnspecifiedMatching -DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C1321427 semapv:UnspecifiedMatching +DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C1321427 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref NCI:C9468 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref ORDO:280133 semapv:UnspecifiedMatching -DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref UMLS_CUI:C1332655 semapv:UnspecifiedMatching +DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref UMLS:C1332655 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency skos:exactMatch OMIM:613779 semapv:UnspecifiedMatching DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref NCI:C40958 semapv:UnspecifiedMatching -DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref UMLS_CUI:C1515293 semapv:UnspecifiedMatching +DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref UMLS:C1515293 semapv:UnspecifiedMatching DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref NCI:C40212 semapv:UnspecifiedMatching -DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516407 semapv:UnspecifiedMatching +DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS:C1516407 semapv:UnspecifiedMatching DOID:8362 enteric pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39932 semapv:UnspecifiedMatching -DOID:8362 enteric pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515304 semapv:UnspecifiedMatching +DOID:8362 enteric pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515304 semapv:UnspecifiedMatching DOID:8368 chordoid meningioma oboInOwl:hasDbXref ICDO:9538/1 semapv:UnspecifiedMatching DOID:8368 chordoid meningioma oboInOwl:hasDbXref NCI:C6908 semapv:UnspecifiedMatching -DOID:8368 chordoid meningioma oboInOwl:hasDbXref UMLS_CUI:C1370510 semapv:UnspecifiedMatching +DOID:8368 chordoid meningioma oboInOwl:hasDbXref UMLS:C1370510 semapv:UnspecifiedMatching DOID:8369 adult malignant schwannoma oboInOwl:hasDbXref NCI:C7814 semapv:UnspecifiedMatching -DOID:8369 adult malignant schwannoma oboInOwl:hasDbXref UMLS_CUI:C0278622 semapv:UnspecifiedMatching +DOID:8369 adult malignant schwannoma oboInOwl:hasDbXref UMLS:C0278622 semapv:UnspecifiedMatching DOID:8389 lumbar plexus neoplasm oboInOwl:hasDbXref NCI:C5824 semapv:UnspecifiedMatching -DOID:8389 lumbar plexus neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334437 semapv:UnspecifiedMatching +DOID:8389 lumbar plexus neoplasm oboInOwl:hasDbXref UMLS:C1334437 semapv:UnspecifiedMatching DOID:8392 reticular pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39923 semapv:UnspecifiedMatching -DOID:8392 reticular pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515308 semapv:UnspecifiedMatching +DOID:8392 reticular pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS:C1515308 semapv:UnspecifiedMatching DOID:8394 adult type testicular granulosa cell tumor oboInOwl:hasDbXref NCI:C39946 semapv:UnspecifiedMatching -DOID:8394 adult type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C1515284 semapv:UnspecifiedMatching +DOID:8394 adult type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS:C1515284 semapv:UnspecifiedMatching DOID:8398 osteoarthritis oboInOwl:hasDbXref EFO:0002506 semapv:UnspecifiedMatching DOID:8398 osteoarthritis oboInOwl:hasDbXref ICD9CM:715.3 semapv:UnspecifiedMatching -DOID:8398 osteoarthritis oboInOwl:hasDbXref UMLS_CUI:C0157946 semapv:UnspecifiedMatching +DOID:8398 osteoarthritis oboInOwl:hasDbXref UMLS:C0157946 semapv:UnspecifiedMatching DOID:8398 osteoarthritis skos:exactMatch MESH:D010003 semapv:UnspecifiedMatching DOID:8399 trombiculiasis oboInOwl:hasDbXref MESH:D014323 semapv:UnspecifiedMatching -DOID:8399 trombiculiasis oboInOwl:hasDbXref UMLS_CUI:C0041170 semapv:UnspecifiedMatching +DOID:8399 trombiculiasis oboInOwl:hasDbXref UMLS:C0041170 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref GARD:12703 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD10CM:M93.2 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD10CM:M93.9 semapv:UnspecifiedMatching @@ -35096,260 +35409,260 @@ DOID:84 osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:Unspeci DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34877 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34878 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS_CUI:C0029420 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS_CUI:C0029421 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029420 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans skos:exactMatch OMIM:165800 semapv:UnspecifiedMatching DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD10CM:J67.3 semapv:UnspecifiedMatching DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD9CM:495.3 semapv:UnspecifiedMatching -DOID:840 cork-handlers' disease oboInOwl:hasDbXref UMLS_CUI:C0152108 semapv:UnspecifiedMatching +DOID:840 cork-handlers' disease oboInOwl:hasDbXref UMLS:C0152108 semapv:UnspecifiedMatching DOID:8400 malignant cornea melanoma oboInOwl:hasDbXref NCI:C4553 semapv:UnspecifiedMatching -DOID:8400 malignant cornea melanoma oboInOwl:hasDbXref UMLS_CUI:C0346367 semapv:UnspecifiedMatching +DOID:8400 malignant cornea melanoma oboInOwl:hasDbXref UMLS:C0346367 semapv:UnspecifiedMatching DOID:8408 Meckel's diverticulitis oboInOwl:hasDbXref NCI:C27300 semapv:UnspecifiedMatching -DOID:8408 Meckel's diverticulitis oboInOwl:hasDbXref UMLS_CUI:C0267497 semapv:UnspecifiedMatching +DOID:8408 Meckel's diverticulitis oboInOwl:hasDbXref UMLS:C0267497 semapv:UnspecifiedMatching DOID:8409 microinvasive cervical squamous cell carcinoma oboInOwl:hasDbXref NCI:C36094 semapv:UnspecifiedMatching -DOID:8409 microinvasive cervical squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333370 semapv:UnspecifiedMatching +DOID:8409 microinvasive cervical squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1333370 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref GARD:12 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref ICD10CM:J67.9 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref ICD9CM:495 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref MESH:D000542 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref NCI:C34369 semapv:UnspecifiedMatching -DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref UMLS_CUI:C0002390 semapv:UnspecifiedMatching +DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref UMLS:C0002390 semapv:UnspecifiedMatching DOID:8410 childhood kidney angiomyolipoma oboInOwl:hasDbXref NCI:C6565 semapv:UnspecifiedMatching -DOID:8410 childhood kidney angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C1333000 semapv:UnspecifiedMatching +DOID:8410 childhood kidney angiomyolipoma oboInOwl:hasDbXref UMLS:C1333000 semapv:UnspecifiedMatching DOID:8411 kidney angiomyolipoma oboInOwl:hasDbXref NCI:C3888 semapv:UnspecifiedMatching -DOID:8411 kidney angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C0241961 semapv:UnspecifiedMatching +DOID:8411 kidney angiomyolipoma oboInOwl:hasDbXref UMLS:C0241961 semapv:UnspecifiedMatching DOID:8415 carcinoma arising in nasal papillomatosis oboInOwl:hasDbXref NCI:C27389 semapv:UnspecifiedMatching -DOID:8415 carcinoma arising in nasal papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1332840 semapv:UnspecifiedMatching +DOID:8415 carcinoma arising in nasal papillomatosis oboInOwl:hasDbXref UMLS:C1332840 semapv:UnspecifiedMatching DOID:8418 congenital fibrosarcoma oboInOwl:hasDbXref NCI:C4244 semapv:UnspecifiedMatching -DOID:8418 congenital fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334459 semapv:UnspecifiedMatching +DOID:8418 congenital fibrosarcoma oboInOwl:hasDbXref UMLS:C0334459 semapv:UnspecifiedMatching DOID:8419 colloid adenoma oboInOwl:hasDbXref NCI:C4161 semapv:UnspecifiedMatching -DOID:8419 colloid adenoma oboInOwl:hasDbXref UMLS_CUI:C0334329 semapv:UnspecifiedMatching +DOID:8419 colloid adenoma oboInOwl:hasDbXref UMLS:C0334329 semapv:UnspecifiedMatching DOID:8420 malignant glandular tumor of peripheral nerve sheath oboInOwl:hasDbXref NCI:C6560 semapv:UnspecifiedMatching -DOID:8420 malignant glandular tumor of peripheral nerve sheath oboInOwl:hasDbXref UMLS_CUI:C1333821 semapv:UnspecifiedMatching +DOID:8420 malignant glandular tumor of peripheral nerve sheath oboInOwl:hasDbXref UMLS:C1333821 semapv:UnspecifiedMatching DOID:8426 follicular infundibulum tumor oboInOwl:hasDbXref NCI:C4469 semapv:UnspecifiedMatching -DOID:8426 follicular infundibulum tumor oboInOwl:hasDbXref UMLS_CUI:C0346006 semapv:UnspecifiedMatching +DOID:8426 follicular infundibulum tumor oboInOwl:hasDbXref UMLS:C0346006 semapv:UnspecifiedMatching DOID:8427 retinal melanoma oboInOwl:hasDbXref NCI:C8601 semapv:UnspecifiedMatching -DOID:8427 retinal melanoma oboInOwl:hasDbXref UMLS_CUI:C0853394 semapv:UnspecifiedMatching +DOID:8427 retinal melanoma oboInOwl:hasDbXref UMLS:C0853394 semapv:UnspecifiedMatching DOID:8428 breast apocrine carcinoma in situ oboInOwl:hasDbXref NCI:C5140 semapv:UnspecifiedMatching -DOID:8428 breast apocrine carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C1332315 semapv:UnspecifiedMatching +DOID:8428 breast apocrine carcinoma in situ oboInOwl:hasDbXref UMLS:C1332315 semapv:UnspecifiedMatching DOID:8431 physiological polycythemia oboInOwl:hasDbXref NCI:C27311 semapv:UnspecifiedMatching -DOID:8431 physiological polycythemia oboInOwl:hasDbXref UMLS_CUI:C0856817 semapv:UnspecifiedMatching +DOID:8431 physiological polycythemia oboInOwl:hasDbXref UMLS:C0856817 semapv:UnspecifiedMatching DOID:8432 polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:8432 polycythemia oboInOwl:hasDbXref MESH:D011086 semapv:UnspecifiedMatching DOID:8432 polycythemia oboInOwl:hasDbXref NCI:C26863 semapv:UnspecifiedMatching -DOID:8432 polycythemia oboInOwl:hasDbXref UMLS_CUI:C0032461 semapv:UnspecifiedMatching +DOID:8432 polycythemia oboInOwl:hasDbXref UMLS:C0032461 semapv:UnspecifiedMatching DOID:8433 thyroid malformation oboInOwl:hasDbXref NCI:C27331 semapv:UnspecifiedMatching -DOID:8433 thyroid malformation oboInOwl:hasDbXref UMLS_CUI:C0877367 semapv:UnspecifiedMatching +DOID:8433 thyroid malformation oboInOwl:hasDbXref UMLS:C0877367 semapv:UnspecifiedMatching DOID:8437 intestinal obstruction oboInOwl:hasDbXref ICD10CM:K56.609 semapv:UnspecifiedMatching DOID:8437 intestinal obstruction oboInOwl:hasDbXref ICD9CM:560.9 semapv:UnspecifiedMatching DOID:8437 intestinal obstruction oboInOwl:hasDbXref MESH:D007415 semapv:UnspecifiedMatching DOID:8437 intestinal obstruction oboInOwl:hasDbXref NCI:C9175 semapv:UnspecifiedMatching -DOID:8437 intestinal obstruction oboInOwl:hasDbXref UMLS_CUI:C0021843 semapv:UnspecifiedMatching +DOID:8437 intestinal obstruction oboInOwl:hasDbXref UMLS:C0021843 semapv:UnspecifiedMatching DOID:8438 afferent loop syndrome oboInOwl:hasDbXref MESH:D000343 semapv:UnspecifiedMatching -DOID:8438 afferent loop syndrome oboInOwl:hasDbXref UMLS_CUI:C0001727 semapv:UnspecifiedMatching +DOID:8438 afferent loop syndrome oboInOwl:hasDbXref UMLS:C0001727 semapv:UnspecifiedMatching DOID:8438 afferent loop syndrome skos:exactMatch MESH:D000343 semapv:UnspecifiedMatching DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref ICD10CM:K91.1 semapv:UnspecifiedMatching DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref ICD9CM:564.2 semapv:UnspecifiedMatching DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref MESH:D011178 semapv:UnspecifiedMatching -DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref UMLS_CUI:C0032763 semapv:UnspecifiedMatching +DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref UMLS:C0032763 semapv:UnspecifiedMatching DOID:8440 ileus oboInOwl:hasDbXref MESH:D045823 semapv:UnspecifiedMatching DOID:8440 ileus oboInOwl:hasDbXref NCI:C37979 semapv:UnspecifiedMatching -DOID:8440 ileus oboInOwl:hasDbXref UMLS_CUI:C1258215 semapv:UnspecifiedMatching +DOID:8440 ileus oboInOwl:hasDbXref UMLS:C1258215 semapv:UnspecifiedMatching DOID:8442 paralytic ileus oboInOwl:hasDbXref ICD10CM:K56.0 semapv:UnspecifiedMatching DOID:8442 paralytic ileus oboInOwl:hasDbXref ICD9CM:560.1 semapv:UnspecifiedMatching DOID:8442 paralytic ileus oboInOwl:hasDbXref MESH:D007418 semapv:UnspecifiedMatching DOID:8442 paralytic ileus oboInOwl:hasDbXref NCI:C93045 semapv:UnspecifiedMatching -DOID:8442 paralytic ileus oboInOwl:hasDbXref UMLS_CUI:C0030446 semapv:UnspecifiedMatching +DOID:8442 paralytic ileus oboInOwl:hasDbXref UMLS:C0030446 semapv:UnspecifiedMatching DOID:8443 brachial plexus lesion oboInOwl:hasDbXref ICD9CM:353.0 semapv:UnspecifiedMatching -DOID:8443 brachial plexus lesion oboInOwl:hasDbXref UMLS_CUI:C0006091 semapv:UnspecifiedMatching +DOID:8443 brachial plexus lesion oboInOwl:hasDbXref UMLS:C0006091 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD10CM:K56.2 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD9CM:560.2 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref MESH:D045822 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref NCI:C98963 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref OMIM:193250 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus oboInOwl:hasDbXref UMLS_CUI:C0042961 semapv:UnspecifiedMatching +DOID:8445 intestinal volvulus oboInOwl:hasDbXref UMLS:C0042961 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus skos:exactMatch OMIM:193250 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref ICD10CM:K56.1 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref ICD9CM:560.0 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref MESH:D007443 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref NCI:C113484 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref OMIM:147710 semapv:UnspecifiedMatching -DOID:8446 intussusception oboInOwl:hasDbXref UMLS_CUI:C0021933 semapv:UnspecifiedMatching +DOID:8446 intussusception oboInOwl:hasDbXref UMLS:C0021933 semapv:UnspecifiedMatching DOID:8446 intussusception skos:exactMatch OMIM:147710 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref ICD10CM:K56.4 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref ICD9CM:560.39 semapv:UnspecifiedMatching -DOID:8448 intestinal impaction oboInOwl:hasDbXref UMLS_CUI:C0029640 semapv:UnspecifiedMatching +DOID:8448 intestinal impaction oboInOwl:hasDbXref UMLS:C0029640 semapv:UnspecifiedMatching DOID:845 cyclothymic disorder oboInOwl:hasDbXref ICD10CM:F34.0 semapv:UnspecifiedMatching DOID:845 cyclothymic disorder oboInOwl:hasDbXref ICD9CM:301.13 semapv:UnspecifiedMatching DOID:845 cyclothymic disorder oboInOwl:hasDbXref MESH:D003527 semapv:UnspecifiedMatching -DOID:845 cyclothymic disorder oboInOwl:hasDbXref UMLS_CUI:C0010598 semapv:UnspecifiedMatching +DOID:845 cyclothymic disorder oboInOwl:hasDbXref UMLS:C0010598 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref ICD10CM:E53.0 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref ICD9CM:266.0 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref MESH:D012257 semapv:UnspecifiedMatching -DOID:8454 riboflavin deficiency oboInOwl:hasDbXref UMLS_CUI:C0035528 semapv:UnspecifiedMatching +DOID:8454 riboflavin deficiency oboInOwl:hasDbXref UMLS:C0035528 semapv:UnspecifiedMatching DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref ICD10CM:E53.1 semapv:UnspecifiedMatching DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref ICD9CM:266.1 semapv:UnspecifiedMatching DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref MESH:D026681 semapv:UnspecifiedMatching DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref NCI:C85221 semapv:UnspecifiedMatching -DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0936215 semapv:UnspecifiedMatching +DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref UMLS:C0936215 semapv:UnspecifiedMatching DOID:8456 choline deficiency disease oboInOwl:hasDbXref MESH:D002796 semapv:UnspecifiedMatching -DOID:8456 choline deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0008412 semapv:UnspecifiedMatching +DOID:8456 choline deficiency disease oboInOwl:hasDbXref UMLS:C0008412 semapv:UnspecifiedMatching DOID:8457 pellagra oboInOwl:hasDbXref GARD:10014 semapv:UnspecifiedMatching DOID:8457 pellagra oboInOwl:hasDbXref ICD9CM:265.2 semapv:UnspecifiedMatching DOID:8457 pellagra oboInOwl:hasDbXref MESH:D010383 semapv:UnspecifiedMatching -DOID:8457 pellagra oboInOwl:hasDbXref UMLS_CUI:C0030783 semapv:UnspecifiedMatching +DOID:8457 pellagra oboInOwl:hasDbXref UMLS:C0030783 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref GARD:5764 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref NCI:C35256 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref ORDO:50 semapv:UnspecifiedMatching -DOID:8461 Aicardi syndrome oboInOwl:hasDbXref UMLS_CUI:C0175713 semapv:UnspecifiedMatching +DOID:8461 Aicardi syndrome oboInOwl:hasDbXref UMLS:C0175713 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome skos:exactMatch MESH:D058540 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome skos:exactMatch OMIM:304050 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.0 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD9CM:370.0 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref MESH:D003320 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref NCI:C50515 semapv:UnspecifiedMatching -DOID:8463 corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0010043 semapv:UnspecifiedMatching +DOID:8463 corneal ulcer oboInOwl:hasDbXref UMLS:C0010043 semapv:UnspecifiedMatching DOID:8464 flat retinoschisis oboInOwl:hasDbXref ICD9CM:361.11 semapv:UnspecifiedMatching -DOID:8464 flat retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0154817 semapv:UnspecifiedMatching +DOID:8464 flat retinoschisis oboInOwl:hasDbXref UMLS:C0154817 semapv:UnspecifiedMatching DOID:8465 retinoschisis oboInOwl:hasDbXref ICD10CM:H33.10 semapv:UnspecifiedMatching DOID:8465 retinoschisis oboInOwl:hasDbXref ICD9CM:361.10 semapv:UnspecifiedMatching DOID:8465 retinoschisis oboInOwl:hasDbXref MESH:D041441 semapv:UnspecifiedMatching DOID:8465 retinoschisis oboInOwl:hasDbXref NCI:C85046 semapv:UnspecifiedMatching -DOID:8465 retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0152439 semapv:UnspecifiedMatching +DOID:8465 retinoschisis oboInOwl:hasDbXref UMLS:C0152439 semapv:UnspecifiedMatching DOID:8466 retinal degeneration oboInOwl:hasDbXref MESH:D012162 semapv:UnspecifiedMatching DOID:8466 retinal degeneration oboInOwl:hasDbXref NCI:C34979 semapv:UnspecifiedMatching -DOID:8466 retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0035304 semapv:UnspecifiedMatching +DOID:8466 retinal degeneration oboInOwl:hasDbXref UMLS:C0035304 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref ICD10CM:J11.1 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref ICD9CM:487 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref MESH:D007251 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref NCI:C53482 semapv:UnspecifiedMatching -DOID:8469 influenza oboInOwl:hasDbXref UMLS_CUI:C0021400 semapv:UnspecifiedMatching +DOID:8469 influenza oboInOwl:hasDbXref UMLS:C0021400 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref GARD:7058 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref ICD10CM:L94.0 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref ICD9CM:701.0 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref NCI:C72069 semapv:UnspecifiedMatching -DOID:8472 localized scleroderma oboInOwl:hasDbXref UMLS_CUI:C0036420 semapv:UnspecifiedMatching +DOID:8472 localized scleroderma oboInOwl:hasDbXref UMLS:C0036420 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref GARD:7889 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref ICD10CM:K90.81 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref ICD9CM:040.2 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref MESH:D008061 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref NCI:C85228 semapv:UnspecifiedMatching -DOID:8476 Whipple disease oboInOwl:hasDbXref UMLS_CUI:C0023788 semapv:UnspecifiedMatching +DOID:8476 Whipple disease oboInOwl:hasDbXref UMLS:C0023788 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref GARD:5728 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref ICD10CM:A42 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref ICD9CM:039.9 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref MESH:D000196 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref NCI:C34350 semapv:UnspecifiedMatching -DOID:8478 actinomycosis oboInOwl:hasDbXref UMLS_CUI:C0001261 semapv:UnspecifiedMatching +DOID:8478 actinomycosis oboInOwl:hasDbXref UMLS:C0001261 semapv:UnspecifiedMatching DOID:8478 actinomycosis skos:exactMatch MESH:D000196 semapv:UnspecifiedMatching DOID:848 arthritis oboInOwl:hasDbXref ICD10CM:M19.90 semapv:UnspecifiedMatching DOID:848 arthritis oboInOwl:hasDbXref MESH:D001168 semapv:UnspecifiedMatching DOID:848 arthritis oboInOwl:hasDbXref NCI:C2883 semapv:UnspecifiedMatching -DOID:848 arthritis oboInOwl:hasDbXref UMLS_CUI:C0003864 semapv:UnspecifiedMatching +DOID:848 arthritis oboInOwl:hasDbXref UMLS:C0003864 semapv:UnspecifiedMatching DOID:848 arthritis skos:exactMatch MESH:D001168 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD10CM:I01.9 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD10CM:M05.3 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD9CM:391.9 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD9CM:398.0 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref NCI:C34985 semapv:UnspecifiedMatching -DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0035440 semapv:UnspecifiedMatching -DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0489959 semapv:UnspecifiedMatching +DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref UMLS:C0035440 semapv:UnspecifiedMatching +DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref UMLS:C0489959 semapv:UnspecifiedMatching DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref ICD10CM:H34.0 semapv:UnspecifiedMatching DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref ICD9CM:362.34 semapv:UnspecifiedMatching DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref NCI:C35193 semapv:UnspecifiedMatching -DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref UMLS_CUI:C0154840 semapv:UnspecifiedMatching +DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref UMLS:C0154840 semapv:UnspecifiedMatching DOID:8483 retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching DOID:8483 retinal artery occlusion oboInOwl:hasDbXref NCI:C34978 semapv:UnspecifiedMatching -DOID:8483 retinal artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0035302 semapv:UnspecifiedMatching +DOID:8483 retinal artery occlusion oboInOwl:hasDbXref UMLS:C0035302 semapv:UnspecifiedMatching DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref ICD10CM:J67.6 semapv:UnspecifiedMatching DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref ICD9CM:495.6 semapv:UnspecifiedMatching -DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref UMLS_CUI:C0155890 semapv:UnspecifiedMatching +DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref UMLS:C0155890 semapv:UnspecifiedMatching DOID:8485 mucormycosis oboInOwl:hasDbXref MESH:D009091 semapv:UnspecifiedMatching DOID:8488 polyhydramnios oboInOwl:hasDbXref ICD10CM:O40 semapv:UnspecifiedMatching DOID:8488 polyhydramnios oboInOwl:hasDbXref ICD9CM:657.0 semapv:UnspecifiedMatching DOID:8488 polyhydramnios oboInOwl:hasDbXref MESH:D006831 semapv:UnspecifiedMatching DOID:8488 polyhydramnios oboInOwl:hasDbXref NCI:C92848 semapv:UnspecifiedMatching -DOID:8488 polyhydramnios oboInOwl:hasDbXref UMLS_CUI:C0020224 semapv:UnspecifiedMatching +DOID:8488 polyhydramnios oboInOwl:hasDbXref UMLS:C0020224 semapv:UnspecifiedMatching DOID:849 rheumatoid arthritis interstitial lung disease oboInOwl:hasDbXref ICD9CM:714.81 semapv:UnspecifiedMatching DOID:8498 hereditary night blindness oboInOwl:hasDbXref ICD10CM:H53.63 semapv:UnspecifiedMatching DOID:8498 hereditary night blindness oboInOwl:hasDbXref ICD9CM:368.61 semapv:UnspecifiedMatching DOID:8498 hereditary night blindness oboInOwl:hasDbXref MESH:C537743 semapv:UnspecifiedMatching -DOID:8498 hereditary night blindness oboInOwl:hasDbXref UMLS_CUI:C1306122 semapv:UnspecifiedMatching +DOID:8498 hereditary night blindness oboInOwl:hasDbXref UMLS:C1306122 semapv:UnspecifiedMatching DOID:8499 night blindness oboInOwl:hasDbXref ICD10CM:H53.6 semapv:UnspecifiedMatching DOID:8499 night blindness oboInOwl:hasDbXref ICD9CM:368.6 semapv:UnspecifiedMatching DOID:8499 night blindness oboInOwl:hasDbXref MESH:D009755 semapv:UnspecifiedMatching DOID:8499 night blindness oboInOwl:hasDbXref NCI:C34850 semapv:UnspecifiedMatching -DOID:8499 night blindness oboInOwl:hasDbXref UMLS_CUI:C0028077 semapv:UnspecifiedMatching +DOID:8499 night blindness oboInOwl:hasDbXref UMLS:C0028077 semapv:UnspecifiedMatching DOID:850 lung disease oboInOwl:hasDbXref ICD10CM:J98.4 semapv:UnspecifiedMatching DOID:850 lung disease oboInOwl:hasDbXref MESH:D008171 semapv:UnspecifiedMatching DOID:850 lung disease oboInOwl:hasDbXref NCI:C3198 semapv:UnspecifiedMatching -DOID:850 lung disease oboInOwl:hasDbXref UMLS_CUI:C0024115 semapv:UnspecifiedMatching +DOID:850 lung disease oboInOwl:hasDbXref UMLS:C0024115 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref ICD9CM:362.7 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref NCI:C35194 semapv:UnspecifiedMatching -DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0154860 semapv:UnspecifiedMatching +DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref UMLS:C0154860 semapv:UnspecifiedMatching DOID:8501 fundus dystrophy oboInOwl:hasDbXref MESH:D058499 semapv:UnspecifiedMatching DOID:8501 fundus dystrophy oboInOwl:hasDbXref NCI:C35625 semapv:UnspecifiedMatching -DOID:8501 fundus dystrophy oboInOwl:hasDbXref UMLS_CUI:C0854723 semapv:UnspecifiedMatching +DOID:8501 fundus dystrophy oboInOwl:hasDbXref UMLS:C0854723 semapv:UnspecifiedMatching DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref ICD10CM:L40.1 semapv:UnspecifiedMatching DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref ICD9CM:694.3 semapv:UnspecifiedMatching -DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref UMLS_CUI:C1314968 semapv:UnspecifiedMatching +DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref UMLS:C1314968 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref ICD10CM:L01.0 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref ICD9CM:684 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref MESH:D007169 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref NCI:C99088 semapv:UnspecifiedMatching -DOID:8504 impetigo oboInOwl:hasDbXref UMLS_CUI:C0021099 semapv:UnspecifiedMatching +DOID:8504 impetigo oboInOwl:hasDbXref UMLS:C0021099 semapv:UnspecifiedMatching DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref GARD:1917 semapv:UnspecifiedMatching DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref ICD10CM:L13.0 semapv:UnspecifiedMatching DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref ICD9CM:694.0 semapv:UnspecifiedMatching DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref MESH:D003874 semapv:UnspecifiedMatching DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref NCI:C26742 semapv:UnspecifiedMatching -DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref UMLS_CUI:C0011608 semapv:UnspecifiedMatching +DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref UMLS:C0011608 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref GARD:5972 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref ICD10CM:L12.0 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref ICD9CM:694.5 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref MESH:D010391 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref NCI:C84389 semapv:UnspecifiedMatching -DOID:8506 bullous pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0030805 semapv:UnspecifiedMatching +DOID:8506 bullous pemphigoid oboInOwl:hasDbXref UMLS:C0030805 semapv:UnspecifiedMatching DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref ICD10CM:L12.2 semapv:UnspecifiedMatching DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref ICD9CM:694.2 semapv:UnspecifiedMatching -DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref UMLS_CUI:C0152092 semapv:UnspecifiedMatching +DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref UMLS:C0152092 semapv:UnspecifiedMatching DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10CM:L13.1 semapv:UnspecifiedMatching DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref ICD9CM:694.1 semapv:UnspecifiedMatching DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref MESH:D012872 semapv:UnspecifiedMatching -DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS_CUI:C0600336 semapv:UnspecifiedMatching +DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS:C0600336 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref ICD10CM:N75.0 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref ICD9CM:616.2 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref NCI:C26706 semapv:UnspecifiedMatching -DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref UMLS_CUI:C0004767 semapv:UnspecifiedMatching +DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref UMLS:C0004767 semapv:UnspecifiedMatching DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref ICD10CM:O88.21 semapv:UnspecifiedMatching DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref ICD9CM:673 semapv:UnspecifiedMatching -DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref UMLS_CUI:C0157540 semapv:UnspecifiedMatching +DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref UMLS:C0157540 semapv:UnspecifiedMatching DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref ICD10CM:I26.09 semapv:UnspecifiedMatching DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref ICD9CM:415 semapv:UnspecifiedMatching -DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref UMLS_CUI:C0155671 semapv:UnspecifiedMatching +DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref UMLS:C0155671 semapv:UnspecifiedMatching DOID:8515 Cor pulmonale oboInOwl:hasDbXref ICD10CM:I27.81 semapv:UnspecifiedMatching DOID:8515 Cor pulmonale oboInOwl:hasDbXref MESH:D011660 semapv:UnspecifiedMatching -DOID:8515 Cor pulmonale oboInOwl:hasDbXref UMLS_CUI:C0034072 semapv:UnspecifiedMatching +DOID:8515 Cor pulmonale oboInOwl:hasDbXref UMLS:C0034072 semapv:UnspecifiedMatching DOID:8516 pulmonary embolism and infarction oboInOwl:hasDbXref ICD9CM:415.1 semapv:UnspecifiedMatching -DOID:8516 pulmonary embolism and infarction oboInOwl:hasDbXref UMLS_CUI:C0034066 semapv:UnspecifiedMatching +DOID:8516 pulmonary embolism and infarction oboInOwl:hasDbXref UMLS:C0034066 semapv:UnspecifiedMatching DOID:8517 acute cor pulmonale oboInOwl:hasDbXref ICD10CM:I26.09 semapv:UnspecifiedMatching DOID:8517 acute cor pulmonale oboInOwl:hasDbXref ICD9CM:415 semapv:UnspecifiedMatching -DOID:8517 acute cor pulmonale oboInOwl:hasDbXref UMLS_CUI:C0155671 semapv:UnspecifiedMatching +DOID:8517 acute cor pulmonale oboInOwl:hasDbXref UMLS:C0155671 semapv:UnspecifiedMatching DOID:8519 barbiturate abuse oboInOwl:hasDbXref ICD10CM:F13.11 semapv:UnspecifiedMatching DOID:8519 barbiturate abuse oboInOwl:hasDbXref ICD9CM:305.43 semapv:UnspecifiedMatching -DOID:8519 barbiturate abuse oboInOwl:hasDbXref UMLS_CUI:C0154529 semapv:UnspecifiedMatching +DOID:8519 barbiturate abuse oboInOwl:hasDbXref UMLS:C0154529 semapv:UnspecifiedMatching DOID:8527 monocytic leukemia oboInOwl:hasDbXref ICD10CM:C93.Z semapv:UnspecifiedMatching DOID:8527 monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.8 semapv:UnspecifiedMatching -DOID:8527 monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0153903 semapv:UnspecifiedMatching +DOID:8527 monocytic leukemia oboInOwl:hasDbXref UMLS:C0153903 semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref ICD10CM:M35.3 semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref ICD9CM:725 semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref MESH:D011111 semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref NCI:C85018 semapv:UnspecifiedMatching -DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref UMLS_CUI:C0032533 semapv:UnspecifiedMatching +DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C0032533 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref GARD:9334 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD10CM:C13 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD10CM:C13.2 semapv:UnspecifiedMatching @@ -35357,46 +35670,46 @@ DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD9CM:148 semapv:UnspecifiedMat DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD9CM:148.3 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref MESH:D007012 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref NCI:C7190 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153398 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0496770 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS:C0153398 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS:C0496770 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref ICD10CM:K21.9 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref ICD9CM:530.81 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref MESH:D005764 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref NCI:C26781 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref OMIM:109350 semapv:UnspecifiedMatching -DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref UMLS_CUI:C0017168 semapv:UnspecifiedMatching +DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref UMLS:C0017168 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease skos:exactMatch OMIM:109350 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref ICD10CM:B02 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref ICD9CM:053 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref MESH:D006562 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref NCI:C71079 semapv:UnspecifiedMatching -DOID:8536 herpes zoster oboInOwl:hasDbXref UMLS_CUI:C0019360 semapv:UnspecifiedMatching +DOID:8536 herpes zoster oboInOwl:hasDbXref UMLS:C0019360 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref ICD9CM:200.0 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref NCI:C27824 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching -DOID:8538 reticulosarcoma oboInOwl:hasDbXref UMLS_CUI:C0024302 semapv:UnspecifiedMatching +DOID:8538 reticulosarcoma oboInOwl:hasDbXref UMLS:C0024302 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma skos:exactMatch OMIM:267730 semapv:UnspecifiedMatching DOID:854 collagen disease oboInOwl:hasDbXref MESH:D003095 semapv:UnspecifiedMatching DOID:854 collagen disease oboInOwl:hasDbXref NCI:C27204 semapv:UnspecifiedMatching -DOID:854 collagen disease oboInOwl:hasDbXref UMLS_CUI:C0009326 semapv:UnspecifiedMatching +DOID:854 collagen disease oboInOwl:hasDbXref UMLS:C0009326 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref GARD:7629 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref ICD10CM:C84.1 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref ICD9CM:202.2 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref MESH:D012751 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref NCI:C3366 semapv:UnspecifiedMatching -DOID:8541 Sezary's disease oboInOwl:hasDbXref UMLS_CUI:C0036920 semapv:UnspecifiedMatching +DOID:8541 Sezary's disease oboInOwl:hasDbXref UMLS:C0036920 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref ICD10CM:C81.4 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref ICD9CM:201.4 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref NCI:C6913 semapv:UnspecifiedMatching -DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref UMLS_CUI:C1266194 semapv:UnspecifiedMatching +DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref UMLS:C1266194 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref GARD:7121 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref ICD10CM:G93.32 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref ICD9CM:780.71 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref MESH:D015673 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref NCI:C3037 semapv:UnspecifiedMatching -DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref UMLS_CUI:C0015674 semapv:UnspecifiedMatching +DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref UMLS:C0015674 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref GARD:6964 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD10CM:T88.3 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD9CM:995.86 semapv:UnspecifiedMatching @@ -35404,11 +35717,11 @@ DOID:8545 malignant hyperthermia oboInOwl:hasDbXref MESH:D008305 semapv:Unspecif DOID:8545 malignant hyperthermia oboInOwl:hasDbXref NCI:C84869 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref OMIMPS:145600 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ORDO:423 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref UMLS_CUI:C0024591 semapv:UnspecifiedMatching +DOID:8545 malignant hyperthermia oboInOwl:hasDbXref UMLS:C0024591 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia skos:exactMatch OMIMPS:145600 semapv:UnspecifiedMatching DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD10CM:L98.4 semapv:UnspecifiedMatching DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD9CM:707 semapv:UnspecifiedMatching -DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref UMLS_CUI:C0157738 semapv:UnspecifiedMatching +DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref UMLS:C0157738 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref EFO:0000339 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref GARD:6105 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ICD9CM:205.1 semapv:UnspecifiedMatching @@ -35416,17 +35729,17 @@ DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ICDO:9863/3 semapv:Unspeci DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref KEGG:05220 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ORDO:521 semapv:UnspecifiedMatching -DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023473 semapv:UnspecifiedMatching +DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0023473 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia skos:exactMatch OMIM:608232 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref GARD:7510 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD10CM:L88 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD9CM:686.01 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref MESH:D017511 semapv:UnspecifiedMatching -DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref UMLS_CUI:C0085652 semapv:UnspecifiedMatching +DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C0085652 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum skos:exactMatch MESH:D017511 semapv:UnspecifiedMatching DOID:8556 vallecula cancer oboInOwl:hasDbXref ICD10CM:C10.0 semapv:UnspecifiedMatching DOID:8556 vallecula cancer oboInOwl:hasDbXref ICD9CM:146.3 semapv:UnspecifiedMatching -DOID:8556 vallecula cancer oboInOwl:hasDbXref UMLS_CUI:C0153386 semapv:UnspecifiedMatching +DOID:8556 vallecula cancer oboInOwl:hasDbXref UMLS:C0153386 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10.2 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10.3 semapv:UnspecifiedMatching @@ -35436,16 +35749,16 @@ DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.5 semapv:UnspecifiedMa DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.6 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.7 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref NCI:C7398 semapv:UnspecifiedMatching -DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153382 semapv:UnspecifiedMatching -DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153388 semapv:UnspecifiedMatching -DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153389 semapv:UnspecifiedMatching -DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153390 semapv:UnspecifiedMatching +DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS:C0153382 semapv:UnspecifiedMatching +DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS:C0153388 semapv:UnspecifiedMatching +DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS:C0153389 semapv:UnspecifiedMatching +DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS:C0153390 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref GARD:894 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref ICD10CM:D81.810 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref MESH:D028921 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref NCI:C84598 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref OMIM:253260 semapv:UnspecifiedMatching -DOID:856 biotinidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0220754 semapv:UnspecifiedMatching +DOID:856 biotinidase deficiency oboInOwl:hasDbXref UMLS:C0220754 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency skos:exactMatch OMIM:253260 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD10CM:C00 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140 semapv:UnspecifiedMatching @@ -35453,14 +35766,14 @@ DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.6 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.8 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref MESH:D008048 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref NCI:C7485 semapv:UnspecifiedMatching -DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153340 semapv:UnspecifiedMatching -DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153346 semapv:UnspecifiedMatching -DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153347 semapv:UnspecifiedMatching +DOID:8564 lip cancer oboInOwl:hasDbXref UMLS:C0153340 semapv:UnspecifiedMatching +DOID:8564 lip cancer oboInOwl:hasDbXref UMLS:C0153346 semapv:UnspecifiedMatching +DOID:8564 lip cancer oboInOwl:hasDbXref UMLS:C0153347 semapv:UnspecifiedMatching DOID:8566 herpes simplex oboInOwl:hasDbXref ICD10CM:B00.9 semapv:UnspecifiedMatching DOID:8566 herpes simplex oboInOwl:hasDbXref ICD9CM:054 semapv:UnspecifiedMatching DOID:8566 herpes simplex oboInOwl:hasDbXref MESH:D006561 semapv:UnspecifiedMatching DOID:8566 herpes simplex oboInOwl:hasDbXref NCI:C155871 semapv:UnspecifiedMatching -DOID:8566 herpes simplex oboInOwl:hasDbXref UMLS_CUI:C0019348 semapv:UnspecifiedMatching +DOID:8566 herpes simplex oboInOwl:hasDbXref UMLS:C0019348 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref EFO:0000183 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref GARD:2714 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref ICD10CM:C81 semapv:UnspecifiedMatching @@ -35471,38 +35784,38 @@ DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref OMIM:236000 semapv:UnspecifiedMa DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref OMIM:300221 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref OMIM:400021 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref ORDO:98293 semapv:UnspecifiedMatching -DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref UMLS_CUI:C0019829 semapv:UnspecifiedMatching +DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref UMLS:C0019829 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma skos:exactMatch MESH:D006689 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma skos:exactMatch NCI:C9357 semapv:UnspecifiedMatching DOID:8568 infectious mononucleosis oboInOwl:hasDbXref ICD10CM:B27 semapv:UnspecifiedMatching DOID:8568 infectious mononucleosis oboInOwl:hasDbXref ICD9CM:075 semapv:UnspecifiedMatching DOID:8568 infectious mononucleosis oboInOwl:hasDbXref MESH:D007244 semapv:UnspecifiedMatching DOID:8568 infectious mononucleosis oboInOwl:hasDbXref NCI:C34726 semapv:UnspecifiedMatching -DOID:8568 infectious mononucleosis oboInOwl:hasDbXref UMLS_CUI:C0021345 semapv:UnspecifiedMatching +DOID:8568 infectious mononucleosis oboInOwl:hasDbXref UMLS:C0021345 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref GARD:3824 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref ICD10CM:D81.81 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref MESH:D009100 semapv:UnspecifiedMatching -DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0026755 semapv:UnspecifiedMatching +DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref UMLS:C0026755 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency skos:exactMatch MESH:D009100 semapv:UnspecifiedMatching DOID:8573 lichen nitidus oboInOwl:hasDbXref ICD10CM:L44.1 semapv:UnspecifiedMatching DOID:8573 lichen nitidus oboInOwl:hasDbXref ICD9CM:697.1 semapv:UnspecifiedMatching DOID:8573 lichen nitidus oboInOwl:hasDbXref MESH:D017513 semapv:UnspecifiedMatching -DOID:8573 lichen nitidus oboInOwl:hasDbXref UMLS_CUI:C0162849 semapv:UnspecifiedMatching +DOID:8573 lichen nitidus oboInOwl:hasDbXref UMLS:C0162849 semapv:UnspecifiedMatching DOID:8574 lichen disease oboInOwl:hasDbXref ICD10CM:L28.0 semapv:UnspecifiedMatching DOID:8574 lichen disease oboInOwl:hasDbXref ICD9CM:697.9 semapv:UnspecifiedMatching -DOID:8574 lichen disease oboInOwl:hasDbXref UMLS_CUI:C0023643 semapv:UnspecifiedMatching +DOID:8574 lichen disease oboInOwl:hasDbXref UMLS:C0023643 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref EFO:0000729 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD10CM:K51 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD9CM:556 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD9CM:556.5 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref MESH:D003093 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref NCI:C2952 semapv:UnspecifiedMatching -DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS_CUI:C0009324 semapv:UnspecifiedMatching -DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS_CUI:C0375359 semapv:UnspecifiedMatching +DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS:C0009324 semapv:UnspecifiedMatching +DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS:C0375359 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref ICD10CM:C05.1 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref ICD9CM:145.3 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref NCI:C3529 semapv:UnspecifiedMatching -DOID:8578 soft palate cancer oboInOwl:hasDbXref UMLS_CUI:C0153376 semapv:UnspecifiedMatching +DOID:8578 soft palate cancer oboInOwl:hasDbXref UMLS:C0153376 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref GARD:5973 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICD10CM:C83.7 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICD9CM:200.2 semapv:UnspecifiedMatching @@ -35511,47 +35824,47 @@ DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMat DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref NCI:C2912 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ORDO:543 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref UMLS_CUI:C0006413 semapv:UnspecifiedMatching +DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0006413 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma skos:exactMatch OMIM:113970 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref GARD:2721 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10CM:D81.818 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref MESH:D028922 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref NCI:C98842 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 semapv:UnspecifiedMatching -DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268581 semapv:UnspecifiedMatching +DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS:C0268581 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency skos:exactMatch OMIM:253270 semapv:UnspecifiedMatching DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref ICD9CM:557.0 semapv:UnspecifiedMatching DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref NCI:C34356 semapv:UnspecifiedMatching -DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref UMLS_CUI:C0001363 semapv:UnspecifiedMatching +DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref UMLS:C0001363 semapv:UnspecifiedMatching DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref ICD10CM:C93.1 semapv:UnspecifiedMatching DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.1 semapv:UnspecifiedMatching DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref MESH:D007951 semapv:UnspecifiedMatching DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref NCI:C34774 semapv:UnspecifiedMatching -DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023466 semapv:UnspecifiedMatching +DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref UMLS:C0023466 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref ICD10CM:A38 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref ICD9CM:034 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref ICD9CM:034.1 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref MESH:D012541 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref NCI:C94575 semapv:UnspecifiedMatching -DOID:8596 scarlet fever oboInOwl:hasDbXref UMLS_CUI:C0036285 semapv:UnspecifiedMatching -DOID:8596 scarlet fever oboInOwl:hasDbXref UMLS_CUI:C0343487 semapv:UnspecifiedMatching +DOID:8596 scarlet fever oboInOwl:hasDbXref UMLS:C0036285 semapv:UnspecifiedMatching +DOID:8596 scarlet fever oboInOwl:hasDbXref UMLS:C0343487 semapv:UnspecifiedMatching DOID:8601 upper gum cancer oboInOwl:hasDbXref ICD10CM:C03.0 semapv:UnspecifiedMatching DOID:8601 upper gum cancer oboInOwl:hasDbXref ICD9CM:143.0 semapv:UnspecifiedMatching -DOID:8601 upper gum cancer oboInOwl:hasDbXref UMLS_CUI:C0153365 semapv:UnspecifiedMatching +DOID:8601 upper gum cancer oboInOwl:hasDbXref UMLS:C0153365 semapv:UnspecifiedMatching DOID:8602 gum cancer oboInOwl:hasDbXref ICD10CM:C03 semapv:UnspecifiedMatching DOID:8602 gum cancer oboInOwl:hasDbXref ICD9CM:143 semapv:UnspecifiedMatching DOID:8602 gum cancer oboInOwl:hasDbXref NCI:C9317 semapv:UnspecifiedMatching -DOID:8602 gum cancer oboInOwl:hasDbXref UMLS_CUI:C0153364 semapv:UnspecifiedMatching +DOID:8602 gum cancer oboInOwl:hasDbXref UMLS:C0153364 semapv:UnspecifiedMatching DOID:8607 herpetic whitlow oboInOwl:hasDbXref ICD9CM:054.6 semapv:UnspecifiedMatching DOID:8607 herpetic whitlow oboInOwl:hasDbXref NCI:C128402 semapv:UnspecifiedMatching -DOID:8607 herpetic whitlow oboInOwl:hasDbXref UMLS_CUI:C0153042 semapv:UnspecifiedMatching +DOID:8607 herpetic whitlow oboInOwl:hasDbXref UMLS:C0153042 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref GARD:7379 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref ICD10CM:N48.6 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref ICD9CM:607.85 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref MESH:D010411 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref NCI:C3316 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref OMIM:171000 semapv:UnspecifiedMatching -DOID:8616 Peyronie's disease oboInOwl:hasDbXref UMLS_CUI:C0030848 semapv:UnspecifiedMatching +DOID:8616 Peyronie's disease oboInOwl:hasDbXref UMLS:C0030848 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease skos:exactMatch OMIM:171000 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref GARD:9360 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref ICD10CM:C04 semapv:UnspecifiedMatching @@ -35561,38 +35874,38 @@ DOID:8618 oral cavity cancer oboInOwl:hasDbXref ICD9CM:144 semapv:UnspecifiedMat DOID:8618 oral cavity cancer oboInOwl:hasDbXref ICD9CM:144.0 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref ICD9CM:144.1 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref NCI:C9318 semapv:UnspecifiedMatching -DOID:8618 oral cavity cancer oboInOwl:hasDbXref UMLS_CUI:C0153368 semapv:UnspecifiedMatching -DOID:8618 oral cavity cancer oboInOwl:hasDbXref UMLS_CUI:C0153369 semapv:UnspecifiedMatching -DOID:8618 oral cavity cancer oboInOwl:hasDbXref UMLS_CUI:C0496758 semapv:UnspecifiedMatching +DOID:8618 oral cavity cancer oboInOwl:hasDbXref UMLS:C0153368 semapv:UnspecifiedMatching +DOID:8618 oral cavity cancer oboInOwl:hasDbXref UMLS:C0153369 semapv:UnspecifiedMatching +DOID:8618 oral cavity cancer oboInOwl:hasDbXref UMLS:C0496758 semapv:UnspecifiedMatching DOID:8619 recurrent hypersomnia oboInOwl:hasDbXref ICD10CM:G47.13 semapv:UnspecifiedMatching DOID:8619 recurrent hypersomnia oboInOwl:hasDbXref ICD9CM:327.13 semapv:UnspecifiedMatching DOID:8619 recurrent hypersomnia oboInOwl:hasDbXref MESH:D006970 semapv:UnspecifiedMatching -DOID:8619 recurrent hypersomnia oboInOwl:hasDbXref UMLS_CUI:C0751226 semapv:UnspecifiedMatching +DOID:8619 recurrent hypersomnia oboInOwl:hasDbXref UMLS:C0751226 semapv:UnspecifiedMatching DOID:862 diplegia of upper limb oboInOwl:hasDbXref ICD10CM:G83.0 semapv:UnspecifiedMatching DOID:862 diplegia of upper limb oboInOwl:hasDbXref ICD9CM:344.2 semapv:UnspecifiedMatching -DOID:862 diplegia of upper limb oboInOwl:hasDbXref UMLS_CUI:C0154701 semapv:UnspecifiedMatching +DOID:862 diplegia of upper limb oboInOwl:hasDbXref UMLS:C0154701 semapv:UnspecifiedMatching DOID:8622 measles oboInOwl:hasDbXref GARD:3434 semapv:UnspecifiedMatching DOID:8622 measles oboInOwl:hasDbXref ICD10CM:B05 semapv:UnspecifiedMatching DOID:8622 measles oboInOwl:hasDbXref ICD9CM:055 semapv:UnspecifiedMatching DOID:8622 measles oboInOwl:hasDbXref MESH:D008457 semapv:UnspecifiedMatching DOID:8622 measles oboInOwl:hasDbXref NCI:C96406 semapv:UnspecifiedMatching -DOID:8622 measles oboInOwl:hasDbXref UMLS_CUI:C0025007 semapv:UnspecifiedMatching +DOID:8622 measles oboInOwl:hasDbXref UMLS:C0025007 semapv:UnspecifiedMatching DOID:8628 Hodgkin's lymphoma, lymphocytic depletion oboInOwl:hasDbXref ICD10CM:C81.3 semapv:UnspecifiedMatching DOID:8628 Hodgkin's lymphoma, lymphocytic depletion oboInOwl:hasDbXref ICD9CM:201.7 semapv:UnspecifiedMatching DOID:8628 Hodgkin's lymphoma, lymphocytic depletion oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching DOID:8628 Hodgkin's lymphoma, lymphocytic depletion oboInOwl:hasDbXref NCI:C9283 semapv:UnspecifiedMatching -DOID:8628 Hodgkin's lymphoma, lymphocytic depletion oboInOwl:hasDbXref UMLS_CUI:C0152267 semapv:UnspecifiedMatching +DOID:8628 Hodgkin's lymphoma, lymphocytic depletion oboInOwl:hasDbXref UMLS:C0152267 semapv:UnspecifiedMatching DOID:863 nervous system disease oboInOwl:hasDbXref ICD10CM:G98 semapv:UnspecifiedMatching DOID:863 nervous system disease oboInOwl:hasDbXref ICD9CM:349.9 semapv:UnspecifiedMatching DOID:863 nervous system disease oboInOwl:hasDbXref MESH:D009422 semapv:UnspecifiedMatching DOID:863 nervous system disease oboInOwl:hasDbXref NCI:C26835 semapv:UnspecifiedMatching -DOID:863 nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0027765 semapv:UnspecifiedMatching +DOID:863 nervous system disease oboInOwl:hasDbXref UMLS:C0027765 semapv:UnspecifiedMatching DOID:8630 upper lip cancer oboInOwl:hasDbXref ICD10CM:C00.0 semapv:UnspecifiedMatching DOID:8630 upper lip cancer oboInOwl:hasDbXref ICD10CM:C00.3 semapv:UnspecifiedMatching DOID:8630 upper lip cancer oboInOwl:hasDbXref ICD9CM:140.0 semapv:UnspecifiedMatching DOID:8630 upper lip cancer oboInOwl:hasDbXref ICD9CM:140.3 semapv:UnspecifiedMatching -DOID:8630 upper lip cancer oboInOwl:hasDbXref UMLS_CUI:C0432579 semapv:UnspecifiedMatching -DOID:8630 upper lip cancer oboInOwl:hasDbXref UMLS_CUI:C0474962 semapv:UnspecifiedMatching +DOID:8630 upper lip cancer oboInOwl:hasDbXref UMLS:C0432579 semapv:UnspecifiedMatching +DOID:8630 upper lip cancer oboInOwl:hasDbXref UMLS:C0474962 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref GARD:6814 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.0 semapv:UnspecifiedMatching @@ -35624,49 +35937,49 @@ DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C6377 semapv:UnspecifiedMatchi DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C6749 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C7006 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C9087 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0036220 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153560 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153561 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153562 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153563 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153564 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153565 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0346935 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0346936 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332265 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332847 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333453 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333744 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333776 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334318 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334457 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335372 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335509 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0036220 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0153560 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0153561 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0153562 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0153563 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0153564 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0153565 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0346935 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C0346936 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1332265 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1332847 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1333453 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1333744 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1333776 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1334318 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1334457 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1335372 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS:C1335509 semapv:UnspecifiedMatching DOID:8633 chronic intestinal vascular insufficiency oboInOwl:hasDbXref ICD9CM:557.1 semapv:UnspecifiedMatching -DOID:8633 chronic intestinal vascular insufficiency oboInOwl:hasDbXref UMLS_CUI:C0311262 semapv:UnspecifiedMatching +DOID:8633 chronic intestinal vascular insufficiency oboInOwl:hasDbXref UMLS:C0311262 semapv:UnspecifiedMatching DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.5 semapv:UnspecifiedMatching DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.4 semapv:UnspecifiedMatching -DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154088 semapv:UnspecifiedMatching +DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref UMLS:C0154088 semapv:UnspecifiedMatching DOID:8635 uvula cancer oboInOwl:hasDbXref ICD10CM:C05.2 semapv:UnspecifiedMatching DOID:8635 uvula cancer oboInOwl:hasDbXref ICD9CM:145.4 semapv:UnspecifiedMatching DOID:8635 uvula cancer oboInOwl:hasDbXref NCI:C35177 semapv:UnspecifiedMatching -DOID:8635 uvula cancer oboInOwl:hasDbXref UMLS_CUI:C0153377 semapv:UnspecifiedMatching +DOID:8635 uvula cancer oboInOwl:hasDbXref UMLS:C0153377 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref ICD10CM:I80 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref MESH:D010689 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref NCI:C38003 semapv:UnspecifiedMatching -DOID:864 phlebitis oboInOwl:hasDbXref UMLS_CUI:C0031542 semapv:UnspecifiedMatching +DOID:864 phlebitis oboInOwl:hasDbXref UMLS:C0031542 semapv:UnspecifiedMatching DOID:8643 duodenitis oboInOwl:hasDbXref ICD10CM:K29.8 semapv:UnspecifiedMatching DOID:8643 duodenitis oboInOwl:hasDbXref ICD9CM:535.6 semapv:UnspecifiedMatching DOID:8643 duodenitis oboInOwl:hasDbXref MESH:D004382 semapv:UnspecifiedMatching DOID:8643 duodenitis oboInOwl:hasDbXref NCI:C94409 semapv:UnspecifiedMatching -DOID:8643 duodenitis oboInOwl:hasDbXref UMLS_CUI:C0013298 semapv:UnspecifiedMatching +DOID:8643 duodenitis oboInOwl:hasDbXref UMLS:C0013298 semapv:UnspecifiedMatching DOID:8644 gastroduodenitis oboInOwl:hasDbXref ICD9CM:535.4 semapv:UnspecifiedMatching -DOID:8644 gastroduodenitis oboInOwl:hasDbXref UMLS_CUI:C0029800 semapv:UnspecifiedMatching +DOID:8644 gastroduodenitis oboInOwl:hasDbXref UMLS:C0029800 semapv:UnspecifiedMatching DOID:8645 subacute delirium oboInOwl:hasDbXref ICD9CM:293.1 semapv:UnspecifiedMatching DOID:8645 subacute delirium oboInOwl:hasDbXref MESH:D003693 semapv:UnspecifiedMatching -DOID:8645 subacute delirium oboInOwl:hasDbXref UMLS_CUI:C0154333 semapv:UnspecifiedMatching +DOID:8645 subacute delirium oboInOwl:hasDbXref UMLS:C0154333 semapv:UnspecifiedMatching DOID:8646 substance-induced psychosis oboInOwl:hasDbXref ICD9CM:293.89 semapv:UnspecifiedMatching -DOID:8646 substance-induced psychosis oboInOwl:hasDbXref UMLS_CUI:C0154334 semapv:UnspecifiedMatching +DOID:8646 substance-induced psychosis oboInOwl:hasDbXref UMLS:C0154334 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref GARD:7779 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C01 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.0 semapv:UnspecifiedMatching @@ -35684,67 +35997,67 @@ DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.6 semapv:UnspecifiedMatchi DOID:8649 tongue cancer oboInOwl:hasDbXref MESH:D014062 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref NCI:C3524 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref NCI:C9345 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153349 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153350 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153351 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153356 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0474963 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0496755 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0684333 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0153349 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0153350 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0153351 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0153356 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0474963 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0496755 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS:C0684333 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref GARD:9565 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref MESH:D014657 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref NCI:C26912 semapv:UnspecifiedMatching -DOID:865 vasculitis oboInOwl:hasDbXref UMLS_CUI:C0042384 semapv:UnspecifiedMatching +DOID:865 vasculitis oboInOwl:hasDbXref UMLS:C0042384 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref ICD10CM:C81.2 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref ICD9CM:201.6 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref NCI:C3517 semapv:UnspecifiedMatching -DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref UMLS_CUI:C0152266 semapv:UnspecifiedMatching +DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref UMLS:C0152266 semapv:UnspecifiedMatching DOID:8659 chickenpox oboInOwl:hasDbXref ICD10CM:B01.9 semapv:UnspecifiedMatching DOID:8659 chickenpox oboInOwl:hasDbXref ICD9CM:052 semapv:UnspecifiedMatching DOID:8659 chickenpox oboInOwl:hasDbXref MESH:D002644 semapv:UnspecifiedMatching DOID:8659 chickenpox oboInOwl:hasDbXref NCI:C97132 semapv:UnspecifiedMatching -DOID:8659 chickenpox oboInOwl:hasDbXref UMLS_CUI:C0008049 semapv:UnspecifiedMatching +DOID:8659 chickenpox oboInOwl:hasDbXref UMLS:C0008049 semapv:UnspecifiedMatching DOID:8659 chickenpox skos:exactMatch MESH:D002644 semapv:UnspecifiedMatching DOID:866 vein disease oboInOwl:hasDbXref ICD10CM:I82 semapv:UnspecifiedMatching DOID:866 vein disease oboInOwl:hasDbXref ICD9CM:453 semapv:UnspecifiedMatching -DOID:866 vein disease oboInOwl:hasDbXref UMLS_CUI:C0155774 semapv:UnspecifiedMatching +DOID:866 vein disease oboInOwl:hasDbXref UMLS:C0155774 semapv:UnspecifiedMatching DOID:8660 postcricoid region cancer oboInOwl:hasDbXref ICD10CM:C13.0 semapv:UnspecifiedMatching DOID:8660 postcricoid region cancer oboInOwl:hasDbXref ICD9CM:148.0 semapv:UnspecifiedMatching DOID:8660 postcricoid region cancer oboInOwl:hasDbXref NCI:C9323 semapv:UnspecifiedMatching -DOID:8660 postcricoid region cancer oboInOwl:hasDbXref UMLS_CUI:C0496769 semapv:UnspecifiedMatching +DOID:8660 postcricoid region cancer oboInOwl:hasDbXref UMLS:C0496769 semapv:UnspecifiedMatching DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref ICD10CM:D00.0 semapv:UnspecifiedMatching DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.0 semapv:UnspecifiedMatching -DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154058 semapv:UnspecifiedMatching +DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref UMLS:C0154058 semapv:UnspecifiedMatching DOID:8663 aryepiglottic fold cancer oboInOwl:hasDbXref ICD10CM:C13.1 semapv:UnspecifiedMatching DOID:8663 aryepiglottic fold cancer oboInOwl:hasDbXref ICD9CM:148.2 semapv:UnspecifiedMatching -DOID:8663 aryepiglottic fold cancer oboInOwl:hasDbXref UMLS_CUI:C0153401 semapv:UnspecifiedMatching +DOID:8663 aryepiglottic fold cancer oboInOwl:hasDbXref UMLS:C0153401 semapv:UnspecifiedMatching DOID:867 maxillary sinus cholesteatoma oboInOwl:hasDbXref NCI:C35868 semapv:UnspecifiedMatching -DOID:867 maxillary sinus cholesteatoma oboInOwl:hasDbXref UMLS_CUI:C1334644 semapv:UnspecifiedMatching +DOID:867 maxillary sinus cholesteatoma oboInOwl:hasDbXref UMLS:C1334644 semapv:UnspecifiedMatching DOID:8670 eating disorder oboInOwl:hasDbXref ICD10CM:F50 semapv:UnspecifiedMatching DOID:8670 eating disorder oboInOwl:hasDbXref ICD9CM:307.50 semapv:UnspecifiedMatching DOID:8670 eating disorder oboInOwl:hasDbXref MESH:D001068 semapv:UnspecifiedMatching DOID:8670 eating disorder oboInOwl:hasDbXref NCI:C89332 semapv:UnspecifiedMatching -DOID:8670 eating disorder oboInOwl:hasDbXref UMLS_CUI:C0013473 semapv:UnspecifiedMatching +DOID:8670 eating disorder oboInOwl:hasDbXref UMLS:C0013473 semapv:UnspecifiedMatching DOID:8672 viral exanthem oboInOwl:hasDbXref ICD9CM:057.8 semapv:UnspecifiedMatching -DOID:8672 viral exanthem oboInOwl:hasDbXref UMLS_CUI:C0029841 semapv:UnspecifiedMatching +DOID:8672 viral exanthem oboInOwl:hasDbXref UMLS:C0029841 semapv:UnspecifiedMatching DOID:8677 perinatal necrotizing enterocolitis oboInOwl:hasDbXref ICD10CM:K55.3 semapv:UnspecifiedMatching DOID:8677 perinatal necrotizing enterocolitis oboInOwl:hasDbXref MESH:D020345 semapv:UnspecifiedMatching -DOID:8677 perinatal necrotizing enterocolitis oboInOwl:hasDbXref UMLS_CUI:C0520459 semapv:UnspecifiedMatching +DOID:8677 perinatal necrotizing enterocolitis oboInOwl:hasDbXref UMLS:C0520459 semapv:UnspecifiedMatching DOID:8680 alcoholic gastritis oboInOwl:hasDbXref ICD10CM:K29.2 semapv:UnspecifiedMatching DOID:8680 alcoholic gastritis oboInOwl:hasDbXref ICD9CM:535.3 semapv:UnspecifiedMatching DOID:8680 alcoholic gastritis oboInOwl:hasDbXref NCI:C26977 semapv:UnspecifiedMatching -DOID:8680 alcoholic gastritis oboInOwl:hasDbXref UMLS_CUI:C0156076 semapv:UnspecifiedMatching +DOID:8680 alcoholic gastritis oboInOwl:hasDbXref UMLS:C0156076 semapv:UnspecifiedMatching DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref ICD9CM:357.3 semapv:UnspecifiedMatching DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref MESH:D020364 semapv:UnspecifiedMatching DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref NCI:C3981 semapv:UnspecifiedMatching -DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0270932 semapv:UnspecifiedMatching +DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref UMLS:C0270932 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref GARD:12763 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref ICD10CM:C92.3 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref ICDO:9930/3 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref MESH:D023981 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref NCI:C35815 semapv:UnspecifiedMatching -DOID:8683 myeloid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0152276 semapv:UnspecifiedMatching +DOID:8683 myeloid sarcoma oboInOwl:hasDbXref UMLS:C0152276 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.0 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.2 semapv:UnspecifiedMatching @@ -35761,28 +36074,28 @@ DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.5 semapv:Unspecif DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.6 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.7 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref NCI:C3640 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154073 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154074 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154077 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154078 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154079 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154080 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154081 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0347139 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154073 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154074 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154077 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154078 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154079 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154080 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0154081 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS:C0347139 semapv:UnspecifiedMatching DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref ICD10CM:C09.1 semapv:UnspecifiedMatching DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref ICD9CM:146.2 semapv:UnspecifiedMatching -DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref UMLS_CUI:C0153385 semapv:UnspecifiedMatching +DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref UMLS:C0153385 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref ICD10CM:F50.0 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref ICD9CM:307.1 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref MESH:D000856 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref NCI:C34387 semapv:UnspecifiedMatching -DOID:8689 anorexia nervosa oboInOwl:hasDbXref UMLS_CUI:C0003125 semapv:UnspecifiedMatching +DOID:8689 anorexia nervosa oboInOwl:hasDbXref UMLS:C0003125 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref GARD:10422 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref ICD10CM:H71.9 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref ICD9CM:385.30 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref MESH:D002781 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref NCI:C2944 semapv:UnspecifiedMatching -DOID:869 cholesteatoma oboInOwl:hasDbXref UMLS_CUI:C0008373 semapv:UnspecifiedMatching +DOID:869 cholesteatoma oboInOwl:hasDbXref UMLS:C0008373 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref GARD:3863 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref ICD10CM:C84.0 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref ICD9CM:202.1 semapv:UnspecifiedMatching @@ -35790,7 +36103,7 @@ DOID:8691 mycosis fungoides oboInOwl:hasDbXref ICDO:9700/3 semapv:UnspecifiedMat DOID:8691 mycosis fungoides oboInOwl:hasDbXref MESH:D009182 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref NCI:C3246 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref OMIM:254400 semapv:UnspecifiedMatching -DOID:8691 mycosis fungoides oboInOwl:hasDbXref UMLS_CUI:C0026948 semapv:UnspecifiedMatching +DOID:8691 mycosis fungoides oboInOwl:hasDbXref UMLS:C0026948 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides skos:exactMatch OMIM:254400 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref GARD:8226 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref ICD10CM:C92 semapv:UnspecifiedMatching @@ -35798,369 +36111,370 @@ DOID:8692 myeloid leukemia oboInOwl:hasDbXref ICD9CM:205 semapv:UnspecifiedMatch DOID:8692 myeloid leukemia oboInOwl:hasDbXref ICDO:9860/3 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref MESH:D007951 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref NCI:C3172 semapv:UnspecifiedMatching -DOID:8692 myeloid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023470 semapv:UnspecifiedMatching +DOID:8692 myeloid leukemia oboInOwl:hasDbXref UMLS:C0023470 semapv:UnspecifiedMatching DOID:8696 subacute monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.2 semapv:UnspecifiedMatching -DOID:8696 subacute monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0152275 semapv:UnspecifiedMatching +DOID:8696 subacute monocytic leukemia oboInOwl:hasDbXref UMLS:C0152275 semapv:UnspecifiedMatching DOID:870 neuropathy oboInOwl:hasDbXref ICD10CM:G62.9 semapv:UnspecifiedMatching DOID:870 neuropathy oboInOwl:hasDbXref NCI:C4731 semapv:UnspecifiedMatching -DOID:870 neuropathy oboInOwl:hasDbXref UMLS_CUI:C0442874 semapv:UnspecifiedMatching +DOID:870 neuropathy oboInOwl:hasDbXref UMLS:C0442874 semapv:UnspecifiedMatching DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref ICD10CM:C06.0 semapv:UnspecifiedMatching DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref ICD9CM:145.0 semapv:UnspecifiedMatching DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref NCI:C9320 semapv:UnspecifiedMatching -DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref UMLS_CUI:C0153373 semapv:UnspecifiedMatching +DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref UMLS:C0153373 semapv:UnspecifiedMatching DOID:8704 genital herpes oboInOwl:hasDbXref ICD9CM:054.1 semapv:UnspecifiedMatching DOID:8704 genital herpes oboInOwl:hasDbXref MESH:D006558 semapv:UnspecifiedMatching DOID:8704 genital herpes oboInOwl:hasDbXref NCI:C14364 semapv:UnspecifiedMatching -DOID:8704 genital herpes oboInOwl:hasDbXref UMLS_CUI:C0019342 semapv:UnspecifiedMatching +DOID:8704 genital herpes oboInOwl:hasDbXref UMLS:C0019342 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref GARD:10420 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref ICD10CM:Q85.0 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref ICD9CM:237.7 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref MESH:D017253 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref NCI:C6727 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref ORDO:634518 semapv:UnspecifiedMatching -DOID:8712 neurofibromatosis oboInOwl:hasDbXref UMLS_CUI:C0162678 semapv:UnspecifiedMatching -DOID:8712 neurofibromatosis oboInOwl:hasDbXref UMLS_CUI:C0495632 semapv:UnspecifiedMatching +DOID:8712 neurofibromatosis oboInOwl:hasDbXref UMLS:C0162678 semapv:UnspecifiedMatching +DOID:8712 neurofibromatosis oboInOwl:hasDbXref UMLS:C0495632 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:broadMatch ORDO:634518 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:exactMatch GARD:10420 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:exactMatch ICD10CM:Q85.0 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:exactMatch ICD9CM:237.7 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:exactMatch MESH:D017253 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:exactMatch NCI:C6727 semapv:UnspecifiedMatching -DOID:8712 neurofibromatosis skos:exactMatch UMLS_CUI:C0162678 semapv:UnspecifiedMatching -DOID:8712 neurofibromatosis skos:exactMatch UMLS_CUI:C0495632 semapv:UnspecifiedMatching +DOID:8712 neurofibromatosis skos:exactMatch SNOMEDCT_US_2020_03_01:19133005 semapv:UnspecifiedMatching +DOID:8712 neurofibromatosis skos:exactMatch UMLS:C0162678 semapv:UnspecifiedMatching +DOID:8712 neurofibromatosis skos:exactMatch UMLS:C0495632 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis skos:narrowMatch ICD10CM:Q85.00 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref ICD10CM:L89 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref ICD9CM:707.0 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref MESH:D003668 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref NCI:C50706 semapv:UnspecifiedMatching -DOID:8717 decubitus ulcer oboInOwl:hasDbXref UMLS_CUI:C4554531 semapv:UnspecifiedMatching +DOID:8717 decubitus ulcer oboInOwl:hasDbXref UMLS:C4554531 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref ICD10CM:D09.9 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref ICD9CM:230-234.99 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref MESH:D002278 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref NCI:C2917 semapv:UnspecifiedMatching -DOID:8719 in situ carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007099 semapv:UnspecifiedMatching +DOID:8719 in situ carcinoma oboInOwl:hasDbXref UMLS:C0007099 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref ICD10CM:F01 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref ICD9CM:290.4 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref MESH:D015140 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref MESH:D015161 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref NCI:C34522 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref NCI:C34525 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS_CUI:C0011263 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS_CUI:C0011269 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS:C0011263 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS:C0011269 semapv:UnspecifiedMatching DOID:8729 milker's nodule oboInOwl:hasDbXref ICD10CM:B08.04 semapv:UnspecifiedMatching DOID:8729 milker's nodule oboInOwl:hasDbXref ICD9CM:051.9 semapv:UnspecifiedMatching DOID:8729 milker's nodule oboInOwl:hasDbXref MESH:D011213 semapv:UnspecifiedMatching -DOID:8729 milker's nodule oboInOwl:hasDbXref UMLS_CUI:C0026143 semapv:UnspecifiedMatching +DOID:8729 milker's nodule oboInOwl:hasDbXref UMLS:C0026143 semapv:UnspecifiedMatching DOID:873 anaerobic pneumonia oboInOwl:hasDbXref ICD9CM:482.81 semapv:UnspecifiedMatching -DOID:873 anaerobic pneumonia oboInOwl:hasDbXref UMLS_CUI:C0375327 semapv:UnspecifiedMatching +DOID:873 anaerobic pneumonia oboInOwl:hasDbXref UMLS:C0375327 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref ICD10CM:C75.4 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref ICD9CM:194.5 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref NCI:C3574 semapv:UnspecifiedMatching -DOID:8731 carotid body cancer oboInOwl:hasDbXref UMLS_CUI:C0153656 semapv:UnspecifiedMatching +DOID:8731 carotid body cancer oboInOwl:hasDbXref UMLS:C0153656 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref GARD:7444 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref ICD10CM:B03 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref ICD9CM:050 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref MESH:D012899 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref NCI:C35027 semapv:UnspecifiedMatching -DOID:8736 smallpox oboInOwl:hasDbXref UMLS_CUI:C0037354 semapv:UnspecifiedMatching +DOID:8736 smallpox oboInOwl:hasDbXref UMLS:C0037354 semapv:UnspecifiedMatching DOID:8738 leukoplakia of penis oboInOwl:hasDbXref ICD10CM:N48.0 semapv:UnspecifiedMatching DOID:8738 leukoplakia of penis oboInOwl:hasDbXref ICD9CM:607.0 semapv:UnspecifiedMatching DOID:8738 leukoplakia of penis oboInOwl:hasDbXref MESH:D052798 semapv:UnspecifiedMatching DOID:8738 leukoplakia of penis oboInOwl:hasDbXref NCI:C3151 semapv:UnspecifiedMatching -DOID:8738 leukoplakia of penis oboInOwl:hasDbXref UMLS_CUI:C0022782 semapv:UnspecifiedMatching +DOID:8738 leukoplakia of penis oboInOwl:hasDbXref UMLS:C0022782 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref ICD10CM:J15.9 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref ICD9CM:482.9 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref MESH:D018410 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref NCI:C26704 semapv:UnspecifiedMatching -DOID:874 bacterial pneumonia oboInOwl:hasDbXref UMLS_CUI:C0004626 semapv:UnspecifiedMatching +DOID:874 bacterial pneumonia oboInOwl:hasDbXref UMLS:C0004626 semapv:UnspecifiedMatching DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref ICD10CM:L21 semapv:UnspecifiedMatching DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref ICD9CM:690.1 semapv:UnspecifiedMatching DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref MESH:D012628 semapv:UnspecifiedMatching DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref NCI:C111888 semapv:UnspecifiedMatching -DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0036508 semapv:UnspecifiedMatching +DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref UMLS:C0036508 semapv:UnspecifiedMatching DOID:8743 erythema infectiosum oboInOwl:hasDbXref ICD10CM:B08.3 semapv:UnspecifiedMatching DOID:8743 erythema infectiosum oboInOwl:hasDbXref ICD9CM:057.0 semapv:UnspecifiedMatching DOID:8743 erythema infectiosum oboInOwl:hasDbXref MESH:D016731 semapv:UnspecifiedMatching DOID:8743 erythema infectiosum oboInOwl:hasDbXref NCI:C84695 semapv:UnspecifiedMatching -DOID:8743 erythema infectiosum oboInOwl:hasDbXref UMLS_CUI:C0085273 semapv:UnspecifiedMatching +DOID:8743 erythema infectiosum oboInOwl:hasDbXref UMLS:C0085273 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref ICD10CM:K29.6 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref ICD9CM:535.2 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref MESH:D005758 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref NCI:C67277 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref OMIM:137280 semapv:UnspecifiedMatching -DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0017155 semapv:UnspecifiedMatching +DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref UMLS:C0017155 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy skos:exactMatch OMIM:137280 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref GARD:4614 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref ICD10CM:M60.0 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref ICD9CM:040.81 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref MESH:D052880 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref NCI:C128382 semapv:UnspecifiedMatching -DOID:876 pyomyositis oboInOwl:hasDbXref UMLS_CUI:C0041188 semapv:UnspecifiedMatching +DOID:876 pyomyositis oboInOwl:hasDbXref UMLS:C0041188 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref GARD:524 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICD10CM:C94.2 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICD9CM:207.2 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICDO:9910/3 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref MESH:D007947 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref NCI:C3170 semapv:UnspecifiedMatching -DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023462 semapv:UnspecifiedMatching +DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref UMLS:C0023462 semapv:UnspecifiedMatching DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref ICD10CM:B08.02 semapv:UnspecifiedMatching DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref ICD9CM:051.2 semapv:UnspecifiedMatching DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref MESH:D004474 semapv:UnspecifiedMatching -DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref UMLS_CUI:C0013570 semapv:UnspecifiedMatching +DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref UMLS:C0013570 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref EFO:0000384 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref GARD:10232 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref ICD10CM:K50.1 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref ICD9CM:555.1 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref MESH:D003424 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref NCI:C37262 semapv:UnspecifiedMatching -DOID:8778 Crohn's disease oboInOwl:hasDbXref UMLS_CUI:C0156147 semapv:UnspecifiedMatching +DOID:8778 Crohn's disease oboInOwl:hasDbXref UMLS:C0156147 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref GARD:4742 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref ICD10CM:B06.9 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref ICD9CM:056 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref MESH:D012409 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref NCI:C85051 semapv:UnspecifiedMatching -DOID:8781 rubella oboInOwl:hasDbXref UMLS_CUI:C0035920 semapv:UnspecifiedMatching +DOID:8781 rubella oboInOwl:hasDbXref UMLS:C0035920 semapv:UnspecifiedMatching DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.1 semapv:UnspecifiedMatching DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref ICD9CM:363.1 semapv:UnspecifiedMatching -DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0154879 semapv:UnspecifiedMatching +DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref UMLS:C0154879 semapv:UnspecifiedMatching DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref ICD10CM:D05 semapv:UnspecifiedMatching DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.0 semapv:UnspecifiedMatching DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref MESH:D000071960 semapv:UnspecifiedMatching -DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154084 semapv:UnspecifiedMatching +DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref UMLS:C0154084 semapv:UnspecifiedMatching DOID:8791 breast carcinoma in situ skos:exactMatch MESH:D000071960 semapv:UnspecifiedMatching DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.2 semapv:UnspecifiedMatching DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref ICD9CM:234.0 semapv:UnspecifiedMatching -DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154094 semapv:UnspecifiedMatching +DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref UMLS:C0154094 semapv:UnspecifiedMatching DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.2 semapv:UnspecifiedMatching DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.2 semapv:UnspecifiedMatching -DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154071 semapv:UnspecifiedMatching +DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref UMLS:C0154071 semapv:UnspecifiedMatching DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.1 semapv:UnspecifiedMatching DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.1 semapv:UnspecifiedMatching DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref NCI:C3639 semapv:UnspecifiedMatching -DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154070 semapv:UnspecifiedMatching +DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref UMLS:C0154070 semapv:UnspecifiedMatching DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref ICD10CM:I20.0 semapv:UnspecifiedMatching DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref ICD9CM:411.1 semapv:UnspecifiedMatching DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref MESH:D000789 semapv:UnspecifiedMatching DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref NCI:C66911 semapv:UnspecifiedMatching -DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref UMLS_CUI:C0002965 semapv:UnspecifiedMatching +DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref UMLS:C0002965 semapv:UnspecifiedMatching DOID:882 heterophyiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching DOID:882 heterophyiasis oboInOwl:hasDbXref ICD9CM:121.6 semapv:UnspecifiedMatching DOID:882 heterophyiasis oboInOwl:hasDbXref NCI:C128389 semapv:UnspecifiedMatching -DOID:882 heterophyiasis oboInOwl:hasDbXref UMLS_CUI:C0152071 semapv:UnspecifiedMatching +DOID:882 heterophyiasis oboInOwl:hasDbXref UMLS:C0152071 semapv:UnspecifiedMatching DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.0 semapv:UnspecifiedMatching DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.3 semapv:UnspecifiedMatching -DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154061 semapv:UnspecifiedMatching +DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref UMLS:C0154061 semapv:UnspecifiedMatching DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref ICD10CM:B83.9 semapv:UnspecifiedMatching DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref ICD9CM:120-129.99 semapv:UnspecifiedMatching DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref MESH:D006373 semapv:UnspecifiedMatching DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref NCI:C84751 semapv:UnspecifiedMatching -DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref UMLS_CUI:C0018889 semapv:UnspecifiedMatching +DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref UMLS:C0018889 semapv:UnspecifiedMatching DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref ICD10CM:C81.1 semapv:UnspecifiedMatching DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref ICD9CM:201.5 semapv:UnspecifiedMatching DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref NCI:C3518 semapv:UnspecifiedMatching -DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref UMLS_CUI:C0152268 semapv:UnspecifiedMatching +DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref UMLS:C0152268 semapv:UnspecifiedMatching DOID:884 metagonimiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching DOID:884 metagonimiasis oboInOwl:hasDbXref ICD9CM:121.5 semapv:UnspecifiedMatching DOID:884 metagonimiasis oboInOwl:hasDbXref MESH:D014201 semapv:UnspecifiedMatching DOID:884 metagonimiasis oboInOwl:hasDbXref NCI:C128390 semapv:UnspecifiedMatching -DOID:884 metagonimiasis oboInOwl:hasDbXref UMLS_CUI:C0025530 semapv:UnspecifiedMatching +DOID:884 metagonimiasis oboInOwl:hasDbXref UMLS:C0025530 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref ICD10CM:C08.1 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref ICD9CM:142.2 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref NCI:C3527 semapv:UnspecifiedMatching -DOID:8849 sublingual gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153361 semapv:UnspecifiedMatching +DOID:8849 sublingual gland cancer oboInOwl:hasDbXref UMLS:C0153361 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref GARD:6428 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref ICD10CM:B66.3 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref ICD9CM:121.3 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref MESH:D005211 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref NCI:C128387 semapv:UnspecifiedMatching -DOID:885 fascioliasis oboInOwl:hasDbXref UMLS_CUI:C0015652 semapv:UnspecifiedMatching +DOID:885 fascioliasis oboInOwl:hasDbXref UMLS:C0015652 semapv:UnspecifiedMatching DOID:8850 salivary gland cancer oboInOwl:hasDbXref ICD10CM:C08 semapv:UnspecifiedMatching DOID:8850 salivary gland cancer oboInOwl:hasDbXref ICD9CM:142.8 semapv:UnspecifiedMatching -DOID:8850 salivary gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153362 semapv:UnspecifiedMatching +DOID:8850 salivary gland cancer oboInOwl:hasDbXref UMLS:C0153362 semapv:UnspecifiedMatching DOID:8857 lupus erythematosus oboInOwl:hasDbXref ICD10CM:L93 semapv:UnspecifiedMatching DOID:8857 lupus erythematosus oboInOwl:hasDbXref ICD9CM:695.4 semapv:UnspecifiedMatching DOID:8857 lupus erythematosus oboInOwl:hasDbXref NCI:C27153 semapv:UnspecifiedMatching -DOID:8857 lupus erythematosus oboInOwl:hasDbXref UMLS_CUI:C0409974 semapv:UnspecifiedMatching +DOID:8857 lupus erythematosus oboInOwl:hasDbXref UMLS:C0409974 semapv:UnspecifiedMatching DOID:8858 tonsil cancer oboInOwl:hasDbXref ICD10CM:C09 semapv:UnspecifiedMatching DOID:8858 tonsil cancer oboInOwl:hasDbXref ICD9CM:146.0 semapv:UnspecifiedMatching DOID:8858 tonsil cancer oboInOwl:hasDbXref MESH:D014067 semapv:UnspecifiedMatching DOID:8858 tonsil cancer oboInOwl:hasDbXref NCI:C7404 semapv:UnspecifiedMatching -DOID:8858 tonsil cancer oboInOwl:hasDbXref UMLS_CUI:C0751560 semapv:UnspecifiedMatching +DOID:8858 tonsil cancer oboInOwl:hasDbXref UMLS:C0751560 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref ICD10CM:Q24.3 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref ICD9CM:746.83 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref MESH:D011662 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref NCI:C34961 semapv:UnspecifiedMatching -DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref UMLS_CUI:C0034084 semapv:UnspecifiedMatching +DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref UMLS:C0034084 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref GARD:525 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.0 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICDO:9891/3 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref OMIM:151380 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023465 semapv:UnspecifiedMatching +DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref UMLS:C0023465 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia skos:exactMatch OMIM:151380 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD10CM:L57.0 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD9CM:702.0 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref ICDO:8070/0 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref MESH:D055623 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref NCI:C3148 semapv:UnspecifiedMatching -DOID:8866 actinic keratosis oboInOwl:hasDbXref UMLS_CUI:C0022602 semapv:UnspecifiedMatching +DOID:8866 actinic keratosis oboInOwl:hasDbXref UMLS:C0022602 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref ICD10CM:B08.1 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref ICD9CM:078.0 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref MESH:D008976 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref NCI:C155872 semapv:UnspecifiedMatching -DOID:8867 molluscum contagiosum oboInOwl:hasDbXref UMLS_CUI:C0026393 semapv:UnspecifiedMatching +DOID:8867 molluscum contagiosum oboInOwl:hasDbXref UMLS:C0026393 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref EFO:0004256 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref GARD:6267 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref ICD10CM:G36.0 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref ICD9CM:341.0 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref MESH:D009471 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref NCI:C84934 semapv:UnspecifiedMatching -DOID:8869 neuromyelitis optica oboInOwl:hasDbXref UMLS_CUI:C0027873 semapv:UnspecifiedMatching +DOID:8869 neuromyelitis optica oboInOwl:hasDbXref UMLS:C0027873 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.4 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.5 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref NCI:C27790 semapv:UnspecifiedMatching -DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154089 semapv:UnspecifiedMatching +DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref UMLS:C0154089 semapv:UnspecifiedMatching DOID:888 fasciolopsiasis oboInOwl:hasDbXref ICD10CM:B66.5 semapv:UnspecifiedMatching DOID:888 fasciolopsiasis oboInOwl:hasDbXref ICD9CM:121.4 semapv:UnspecifiedMatching DOID:888 fasciolopsiasis oboInOwl:hasDbXref MESH:D014201 semapv:UnspecifiedMatching DOID:888 fasciolopsiasis oboInOwl:hasDbXref NCI:C128388 semapv:UnspecifiedMatching -DOID:888 fasciolopsiasis oboInOwl:hasDbXref UMLS_CUI:C0015656 semapv:UnspecifiedMatching +DOID:888 fasciolopsiasis oboInOwl:hasDbXref UMLS:C0015656 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref ICD10CM:L71 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref ICD9CM:695.3 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref MESH:D012393 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref NCI:C97136 semapv:UnspecifiedMatching -DOID:8881 rosacea oboInOwl:hasDbXref UMLS_CUI:C0035854 semapv:UnspecifiedMatching +DOID:8881 rosacea oboInOwl:hasDbXref UMLS:C0035854 semapv:UnspecifiedMatching DOID:8883 lower lip cancer oboInOwl:hasDbXref ICD10CM:C00.1 semapv:UnspecifiedMatching DOID:8883 lower lip cancer oboInOwl:hasDbXref ICD9CM:140.1 semapv:UnspecifiedMatching -DOID:8883 lower lip cancer oboInOwl:hasDbXref UMLS_CUI:C0432520 semapv:UnspecifiedMatching +DOID:8883 lower lip cancer oboInOwl:hasDbXref UMLS:C0432520 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref GARD:6060 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref ICD9CM:363.20 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref MESH:D002825 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref NCI:C110923 semapv:UnspecifiedMatching -DOID:8886 chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0008513 semapv:UnspecifiedMatching +DOID:8886 chorioretinitis oboInOwl:hasDbXref UMLS:C0008513 semapv:UnspecifiedMatching DOID:8892 pityriasis rosea oboInOwl:hasDbXref ICD10CM:L42 semapv:UnspecifiedMatching DOID:8892 pityriasis rosea oboInOwl:hasDbXref ICD9CM:696.3 semapv:UnspecifiedMatching DOID:8892 pityriasis rosea oboInOwl:hasDbXref MESH:D017515 semapv:UnspecifiedMatching DOID:8892 pityriasis rosea oboInOwl:hasDbXref NCI:C26855 semapv:UnspecifiedMatching -DOID:8892 pityriasis rosea oboInOwl:hasDbXref UMLS_CUI:C0032026 semapv:UnspecifiedMatching +DOID:8892 pityriasis rosea oboInOwl:hasDbXref UMLS:C0032026 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref EFO:0000676 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref GARD:10262 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref ICD10CM:L40 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref NCI:C3346 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref OMIMPS:177900 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref UMLS_CUI:C0033860 semapv:UnspecifiedMatching +DOID:8893 psoriasis oboInOwl:hasDbXref UMLS:C0033860 semapv:UnspecifiedMatching DOID:8893 psoriasis skos:exactMatch OMIMPS:177900 semapv:UnspecifiedMatching DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref MESH:D017237 semapv:UnspecifiedMatching -DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS_CUI:C0162666 semapv:UnspecifiedMatching +DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS:C0162666 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref GARD:7140 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref NCI:C7636 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIMPS:254800 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref UMLS_CUI:C0751778 semapv:UnspecifiedMatching +DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref UMLS:C0751778 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy skos:exactMatch NCI:C7636 semapv:UnspecifiedMatching DOID:8912 tinea nigra oboInOwl:hasDbXref ICD10CM:B36.1 semapv:UnspecifiedMatching DOID:8912 tinea nigra oboInOwl:hasDbXref ICD9CM:111.1 semapv:UnspecifiedMatching DOID:8912 tinea nigra oboInOwl:hasDbXref MESH:C000656904 semapv:UnspecifiedMatching -DOID:8912 tinea nigra oboInOwl:hasDbXref UMLS_CUI:C0152067 semapv:UnspecifiedMatching +DOID:8912 tinea nigra oboInOwl:hasDbXref UMLS:C0152067 semapv:UnspecifiedMatching DOID:8913 dermatophytosis oboInOwl:hasDbXref ICD10CM:B35 semapv:UnspecifiedMatching DOID:8913 dermatophytosis oboInOwl:hasDbXref ICD9CM:110 semapv:UnspecifiedMatching DOID:8913 dermatophytosis oboInOwl:hasDbXref NCI:C26745 semapv:UnspecifiedMatching -DOID:8913 dermatophytosis oboInOwl:hasDbXref UMLS_CUI:C0011636 semapv:UnspecifiedMatching +DOID:8913 dermatophytosis oboInOwl:hasDbXref UMLS:C0011636 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref ICD10CM:N89.4 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref ICD9CM:623.1 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref NCI:C3663 semapv:UnspecifiedMatching -DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref UMLS_CUI:C0156385 semapv:UnspecifiedMatching +DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref UMLS:C0156385 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref ICD10CM:C43.9 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref ICD9CM:172.9 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref MESH:C562393 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref NCI:C3510 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:608035 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:612263 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref UMLS_CUI:C0151779 semapv:UnspecifiedMatching +DOID:8923 skin melanoma oboInOwl:hasDbXref UMLS:C0151779 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:D69.3 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD9CM:287.31 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref NCI:C3446 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref OMIM:188030 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref UMLS_CUI:C0398650 semapv:UnspecifiedMatching +DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0398650 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura skos:exactMatch OMIM:188030 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.39 semapv:UnspecifiedMatching -DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0477317 semapv:UnspecifiedMatching +DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref UMLS:C0477317 semapv:UnspecifiedMatching DOID:8927 learning disability oboInOwl:hasDbXref ICD10CM:F81.9 semapv:UnspecifiedMatching DOID:8927 learning disability oboInOwl:hasDbXref MESH:D007859 semapv:UnspecifiedMatching DOID:8927 learning disability oboInOwl:hasDbXref NCI:C89334 semapv:UnspecifiedMatching -DOID:8927 learning disability oboInOwl:hasDbXref UMLS_CUI:C0023186 semapv:UnspecifiedMatching -DOID:8927 learning disability oboInOwl:hasDbXref UMLS_CUI:C0751265 semapv:UnspecifiedMatching +DOID:8927 learning disability oboInOwl:hasDbXref UMLS:C0023186 semapv:UnspecifiedMatching +DOID:8927 learning disability oboInOwl:hasDbXref UMLS:C0751265 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref ICD10CM:K29.4 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref ICD9CM:535.1 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref MESH:D005757 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref NCI:C7405 semapv:UnspecifiedMatching -DOID:8929 atrophic gastritis oboInOwl:hasDbXref UMLS_CUI:C0017154 semapv:UnspecifiedMatching +DOID:8929 atrophic gastritis oboInOwl:hasDbXref UMLS:C0017154 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref GARD:7893 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref ICD10CM:E83.01 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref MESH:D006527 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref NCI:C84756 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching -DOID:893 Wilson disease oboInOwl:hasDbXref UMLS_CUI:C0019202 semapv:UnspecifiedMatching +DOID:893 Wilson disease oboInOwl:hasDbXref UMLS:C0019202 semapv:UnspecifiedMatching DOID:893 Wilson disease skos:exactMatch OMIM:277900 semapv:UnspecifiedMatching DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD10CM:C06.2 semapv:UnspecifiedMatching DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD9CM:145.6 semapv:UnspecifiedMatching -DOID:8930 retromolar area cancer oboInOwl:hasDbXref UMLS_CUI:C0153379 semapv:UnspecifiedMatching +DOID:8930 retromolar area cancer oboInOwl:hasDbXref UMLS:C0153379 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref GARD:6389 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref ICD10CM:D69.41 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref ICD9CM:287.32 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref MESH:C536380 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref NCI:C61284 semapv:UnspecifiedMatching -DOID:8931 Evans' syndrome oboInOwl:hasDbXref UMLS_CUI:C0272126 semapv:UnspecifiedMatching +DOID:8931 Evans' syndrome oboInOwl:hasDbXref UMLS:C0272126 semapv:UnspecifiedMatching DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref ICD10CM:M72.2 semapv:UnspecifiedMatching DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref ICD9CM:728.71 semapv:UnspecifiedMatching DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref MESH:D000071380 semapv:UnspecifiedMatching DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref NCI:C4680 semapv:UnspecifiedMatching -DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0158360 semapv:UnspecifiedMatching +DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref UMLS:C0158360 semapv:UnspecifiedMatching DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref ICD10CM:C14.2 semapv:UnspecifiedMatching DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref ICD9CM:149.1 semapv:UnspecifiedMatching -DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref UMLS_CUI:C0153406 semapv:UnspecifiedMatching +DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref UMLS:C0153406 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref ICD10CM:L21.0 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref ICD9CM:690.11 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref MESH:D063807 semapv:UnspecifiedMatching -DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref UMLS_CUI:C0221244 semapv:UnspecifiedMatching +DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref UMLS:C0221244 semapv:UnspecifiedMatching DOID:8943 lattice corneal dystrophy oboInOwl:hasDbXref MESH:C537935 semapv:UnspecifiedMatching DOID:8943 lattice corneal dystrophy oboInOwl:hasDbXref OMIM:122200 semapv:UnspecifiedMatching DOID:8943 lattice corneal dystrophy skos:exactMatch OMIM:122200 semapv:UnspecifiedMatching DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.06 semapv:UnspecifiedMatching -DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0730278 semapv:UnspecifiedMatching +DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref UMLS:C0730278 semapv:UnspecifiedMatching DOID:8947 diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.0 semapv:UnspecifiedMatching DOID:8947 diabetic retinopathy oboInOwl:hasDbXref MESH:D003930 semapv:UnspecifiedMatching DOID:8947 diabetic retinopathy oboInOwl:hasDbXref NCI:C34538 semapv:UnspecifiedMatching -DOID:8947 diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0011884 semapv:UnspecifiedMatching +DOID:8947 diabetic retinopathy oboInOwl:hasDbXref UMLS:C0011884 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref GARD:667 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD10CM:D64.3 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD9CM:285.0 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref MESH:D000756 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref NCI:C36078 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref OMIMPS:300751 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002896 semapv:UnspecifiedMatching +DOID:8955 sideroblastic anemia oboInOwl:hasDbXref UMLS:C0002896 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia skos:exactMatch OMIMPS:300751 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref ICD10CM:B08.010 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref ICD9CM:051.01 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref MESH:D015605 semapv:UnspecifiedMatching -DOID:8956 cowpox oboInOwl:hasDbXref UMLS_CUI:C0010232 semapv:UnspecifiedMatching +DOID:8956 cowpox oboInOwl:hasDbXref UMLS:C0010232 semapv:UnspecifiedMatching DOID:896 metal metabolism disorder oboInOwl:hasDbXref MESH:D008664 semapv:UnspecifiedMatching -DOID:896 metal metabolism disorder oboInOwl:hasDbXref UMLS_CUI:C0025534 semapv:UnspecifiedMatching +DOID:896 metal metabolism disorder oboInOwl:hasDbXref UMLS:C0025534 semapv:UnspecifiedMatching DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref ICD10CM:C09.0 semapv:UnspecifiedMatching DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref ICD9CM:146.1 semapv:UnspecifiedMatching -DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref UMLS_CUI:C0153384 semapv:UnspecifiedMatching +DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref UMLS:C0153384 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref GARD:7708 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD10CM:A81.1 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD9CM:046.2 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref MESH:D013344 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref NCI:C85171 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS_CUI:C0038522 semapv:UnspecifiedMatching +DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:7419 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10CM:Q61.3 semapv:UnspecifiedMatching @@ -36168,7 +36482,7 @@ DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD9CM: DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MESH:D007690 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref NCI:C75464 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ORDO:730 semapv:UnspecifiedMatching -DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022680 semapv:UnspecifiedMatching +DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref UMLS:C0022680 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref EFO:0000614 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref GARD:7162 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref ICD10CM:G47.41 semapv:UnspecifiedMatching @@ -36183,19 +36497,19 @@ DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:612851 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614250 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref ORDO:2073 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref UMLS_CUI:C0027404 semapv:UnspecifiedMatching +DOID:8986 narcolepsy oboInOwl:hasDbXref UMLS:C0027404 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref GARD:9229 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref ICD10CM:Q44.4 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref MESH:D015529 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref NCI:C2943 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref OMIM:603003 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref ORDO:480501 semapv:UnspecifiedMatching -DOID:899 choledochal cyst oboInOwl:hasDbXref UMLS_CUI:C0008340 semapv:UnspecifiedMatching +DOID:899 choledochal cyst oboInOwl:hasDbXref UMLS:C0008340 semapv:UnspecifiedMatching DOID:899 choledochal cyst skos:exactMatch OMIM:603003 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref ICD10CM:D06 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.1 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref MESH:D002578 semapv:UnspecifiedMatching -DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0851140 semapv:UnspecifiedMatching +DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref UMLS:C0851140 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref GARD:7422 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD10CM:D45 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD9CM:207.1 semapv:UnspecifiedMatching @@ -36204,93 +36518,93 @@ DOID:8997 polycythemia vera oboInOwl:hasDbXref ICDO:9950/3 semapv:UnspecifiedMat DOID:8997 polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref NCI:C3336 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref OMIM:263300 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS_CUI:C0032463 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS_CUI:C0152272 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS:C0032463 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS:C0152272 semapv:UnspecifiedMatching DOID:8997 polycythemia vera skos:exactMatch OMIM:263300 semapv:UnspecifiedMatching DOID:90 degenerative disc disease oboInOwl:hasDbXref EFO:0004994 semapv:UnspecifiedMatching DOID:90 degenerative disc disease oboInOwl:hasDbXref NCI:C27156 semapv:UnspecifiedMatching -DOID:90 degenerative disc disease oboInOwl:hasDbXref UMLS_CUI:C0410606 semapv:UnspecifiedMatching +DOID:90 degenerative disc disease oboInOwl:hasDbXref UMLS:C0410606 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref ICD10CM:K76.81 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref ICD9CM:573.5 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref MESH:D020065 semapv:UnspecifiedMatching -DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref UMLS_CUI:C0600452 semapv:UnspecifiedMatching +DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref UMLS:C0600452 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref GARD:7711 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref ICD9CM:798.0 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref MESH:D013398 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref NCI:C85173 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref OMIM:272120 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref UMLS_CUI:C0038644 semapv:UnspecifiedMatching +DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref UMLS:C0038644 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome skos:exactMatch OMIM:272120 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref EFO:0003778 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD10CM:L40.5 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD9CM:696.0 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref MESH:D015535 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref NCI:C61277 semapv:UnspecifiedMatching -DOID:9008 psoriatic arthritis oboInOwl:hasDbXref UMLS_CUI:C0003872 semapv:UnspecifiedMatching +DOID:9008 psoriatic arthritis oboInOwl:hasDbXref UMLS:C0003872 semapv:UnspecifiedMatching DOID:901 liver lymphoma oboInOwl:hasDbXref NCI:C4949 semapv:UnspecifiedMatching -DOID:901 liver lymphoma oboInOwl:hasDbXref UMLS_CUI:C1112746 semapv:UnspecifiedMatching +DOID:901 liver lymphoma oboInOwl:hasDbXref UMLS:C1112746 semapv:UnspecifiedMatching DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.0 semapv:UnspecifiedMatching DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.0 semapv:UnspecifiedMatching -DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154069 semapv:UnspecifiedMatching +DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref UMLS:C0154069 semapv:UnspecifiedMatching DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref ICD9CM:530.83 semapv:UnspecifiedMatching DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref NCI:C3953 semapv:UnspecifiedMatching -DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref UMLS_CUI:C0267095 semapv:UnspecifiedMatching +DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref UMLS:C0267095 semapv:UnspecifiedMatching DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.4 semapv:UnspecifiedMatching DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.7 semapv:UnspecifiedMatching -DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154065 semapv:UnspecifiedMatching +DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref UMLS:C0154065 semapv:UnspecifiedMatching DOID:903 gastrointestinal lymphoma oboInOwl:hasDbXref NCI:C38162 semapv:UnspecifiedMatching -DOID:903 gastrointestinal lymphoma oboInOwl:hasDbXref UMLS_CUI:C0740372 semapv:UnspecifiedMatching +DOID:903 gastrointestinal lymphoma oboInOwl:hasDbXref UMLS:C0740372 semapv:UnspecifiedMatching DOID:9036 parotid gland cancer oboInOwl:hasDbXref ICD10CM:C07 semapv:UnspecifiedMatching DOID:9036 parotid gland cancer oboInOwl:hasDbXref ICD9CM:142.0 semapv:UnspecifiedMatching DOID:9036 parotid gland cancer oboInOwl:hasDbXref MESH:D010307 semapv:UnspecifiedMatching DOID:9036 parotid gland cancer oboInOwl:hasDbXref NCI:C3525 semapv:UnspecifiedMatching -DOID:9036 parotid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0747273 semapv:UnspecifiedMatching +DOID:9036 parotid gland cancer oboInOwl:hasDbXref UMLS:C0747273 semapv:UnspecifiedMatching DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref ICD10CM:N84.0 semapv:UnspecifiedMatching DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref ICD9CM:621.0 semapv:UnspecifiedMatching DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref NCI:C3662 semapv:UnspecifiedMatching -DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref UMLS_CUI:C0156369 semapv:UnspecifiedMatching +DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref UMLS:C0156369 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref ICD10CM:N88.0 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref ICD9CM:622.2 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref NCI:C3976 semapv:UnspecifiedMatching -DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref UMLS_CUI:C0269194 semapv:UnspecifiedMatching +DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref UMLS:C0269194 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref GARD:7917 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref ICD10CM:E71.510 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref MESH:D015211 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref NCI:C85239 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref ORDO:912 semapv:UnspecifiedMatching -DOID:905 Zellweger syndrome oboInOwl:hasDbXref UMLS_CUI:C0043459 semapv:UnspecifiedMatching +DOID:905 Zellweger syndrome oboInOwl:hasDbXref UMLS:C0043459 semapv:UnspecifiedMatching DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.0 semapv:UnspecifiedMatching DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.7 semapv:UnspecifiedMatching -DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154091 semapv:UnspecifiedMatching +DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref UMLS:C0154091 semapv:UnspecifiedMatching DOID:906 peroxisomal disease oboInOwl:hasDbXref ICD10CM:E71.5 semapv:UnspecifiedMatching DOID:906 peroxisomal disease oboInOwl:hasDbXref ICD9CM:277.86 semapv:UnspecifiedMatching DOID:906 peroxisomal disease oboInOwl:hasDbXref MESH:D018901 semapv:UnspecifiedMatching DOID:906 peroxisomal disease oboInOwl:hasDbXref NCI:C85005 semapv:UnspecifiedMatching -DOID:906 peroxisomal disease oboInOwl:hasDbXref UMLS_CUI:C0282528 semapv:UnspecifiedMatching +DOID:906 peroxisomal disease oboInOwl:hasDbXref UMLS:C0282528 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref ICD10CM:B36.0 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref ICD9CM:111.0 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref MESH:D014010 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref NCI:C112833 semapv:UnspecifiedMatching -DOID:9060 pityriasis versicolor oboInOwl:hasDbXref UMLS_CUI:C0040262 semapv:UnspecifiedMatching +DOID:9060 pityriasis versicolor oboInOwl:hasDbXref UMLS:C0040262 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref ICD10CM:L00 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref ICD9CM:695.81 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref MESH:D013206 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref NCI:C85077 semapv:UnspecifiedMatching -DOID:9063 Ritter's disease oboInOwl:hasDbXref UMLS_CUI:C0038165 semapv:UnspecifiedMatching +DOID:9063 Ritter's disease oboInOwl:hasDbXref UMLS:C0038165 semapv:UnspecifiedMatching DOID:9065 leishmaniasis oboInOwl:hasDbXref GARD:6881 semapv:UnspecifiedMatching DOID:9065 leishmaniasis oboInOwl:hasDbXref ICD10CM:B55 semapv:UnspecifiedMatching DOID:9065 leishmaniasis oboInOwl:hasDbXref ICD9CM:085 semapv:UnspecifiedMatching DOID:9065 leishmaniasis oboInOwl:hasDbXref MESH:D007896 semapv:UnspecifiedMatching DOID:9065 leishmaniasis oboInOwl:hasDbXref NCI:C34767 semapv:UnspecifiedMatching -DOID:9065 leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023281 semapv:UnspecifiedMatching +DOID:9065 leishmaniasis oboInOwl:hasDbXref UMLS:C0023281 semapv:UnspecifiedMatching DOID:907 liver fibroma oboInOwl:hasDbXref NCI:C5752 semapv:UnspecifiedMatching -DOID:907 liver fibroma oboInOwl:hasDbXref UMLS_CUI:C1333965 semapv:UnspecifiedMatching +DOID:907 liver fibroma oboInOwl:hasDbXref UMLS:C1333965 semapv:UnspecifiedMatching DOID:9072 lethal midline granuloma oboInOwl:hasDbXref GARD:9622 semapv:UnspecifiedMatching DOID:9072 lethal midline granuloma oboInOwl:hasDbXref ICD10CM:M31.2 semapv:UnspecifiedMatching DOID:9072 lethal midline granuloma oboInOwl:hasDbXref ICD9CM:446.3 semapv:UnspecifiedMatching DOID:9072 lethal midline granuloma oboInOwl:hasDbXref MESH:D006103 semapv:UnspecifiedMatching DOID:9072 lethal midline granuloma oboInOwl:hasDbXref NCI:C8196 semapv:UnspecifiedMatching -DOID:9072 lethal midline granuloma oboInOwl:hasDbXref UMLS_CUI:C0018197 semapv:UnspecifiedMatching +DOID:9072 lethal midline granuloma oboInOwl:hasDbXref UMLS:C0018197 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref EFO:0002690 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref GARD:10253 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ICD10CM:M32.9 semapv:UnspecifiedMatching @@ -36311,49 +36625,49 @@ DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612378 semapv:Uns DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:613145 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ORDO:536 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref UMLS_CUI:C0024141 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C0024141 semapv:UnspecifiedMatching DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref ICD10CM:H01.12 semapv:UnspecifiedMatching DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref ICD9CM:373.34 semapv:UnspecifiedMatching -DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155180 semapv:UnspecifiedMatching +DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref UMLS:C0155180 semapv:UnspecifiedMatching DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.6 semapv:UnspecifiedMatching DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref NCI:C157575 semapv:UnspecifiedMatching -DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154064 semapv:UnspecifiedMatching +DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref UMLS:C0154064 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref GARD:7328 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref ICD10CM:L41 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref ICD9CM:696.2 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref MESH:D010267 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref NCI:C3312 semapv:UnspecifiedMatching -DOID:9088 parapsoriasis oboInOwl:hasDbXref UMLS_CUI:C0030491 semapv:UnspecifiedMatching +DOID:9088 parapsoriasis oboInOwl:hasDbXref UMLS:C0030491 semapv:UnspecifiedMatching DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref ICD10CM:G47.52 semapv:UnspecifiedMatching DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref ICD9CM:327.42 semapv:UnspecifiedMatching DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref MESH:D020187 semapv:UnspecifiedMatching -DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref UMLS_CUI:C0751772 semapv:UnspecifiedMatching +DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref UMLS:C0751772 semapv:UnspecifiedMatching DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref ICD10CM:D00.1 semapv:UnspecifiedMatching DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.1 semapv:UnspecifiedMatching -DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154059 semapv:UnspecifiedMatching +DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref UMLS:C0154059 semapv:UnspecifiedMatching DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref ICD9CM:690 semapv:UnspecifiedMatching DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref NCI:C34591 semapv:UnspecifiedMatching -DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref UMLS_CUI:C0014747 semapv:UnspecifiedMatching +DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref UMLS:C0014747 semapv:UnspecifiedMatching DOID:9098 sebaceous gland disease oboInOwl:hasDbXref ICD10CM:L70.8 semapv:UnspecifiedMatching DOID:9098 sebaceous gland disease oboInOwl:hasDbXref ICD9CM:706.1 semapv:UnspecifiedMatching -DOID:9098 sebaceous gland disease oboInOwl:hasDbXref UMLS_CUI:C0029485 semapv:UnspecifiedMatching +DOID:9098 sebaceous gland disease oboInOwl:hasDbXref UMLS:C0029485 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.4 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.4 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref NCI:C5574 semapv:UnspecifiedMatching -DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153638 semapv:UnspecifiedMatching -DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263889 semapv:UnspecifiedMatching +DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref UMLS:C0153638 semapv:UnspecifiedMatching +DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref UMLS:C1263889 semapv:UnspecifiedMatching DOID:9108 uterus carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.2 semapv:UnspecifiedMatching -DOID:9108 uterus carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154086 semapv:UnspecifiedMatching +DOID:9108 uterus carcinoma in situ oboInOwl:hasDbXref UMLS:C0154086 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.1 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref MESH:D016773 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref NCI:C34768 semapv:UnspecifiedMatching -DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023283 semapv:UnspecifiedMatching +DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref UMLS:C0023283 semapv:UnspecifiedMatching DOID:9113 granuloma inguinale oboInOwl:hasDbXref GARD:9532 semapv:UnspecifiedMatching DOID:9113 granuloma inguinale oboInOwl:hasDbXref ICD10CM:A58 semapv:UnspecifiedMatching DOID:9113 granuloma inguinale oboInOwl:hasDbXref ICD9CM:099.2 semapv:UnspecifiedMatching DOID:9113 granuloma inguinale oboInOwl:hasDbXref MESH:D006100 semapv:UnspecifiedMatching DOID:9113 granuloma inguinale oboInOwl:hasDbXref NCI:C3065 semapv:UnspecifiedMatching -DOID:9113 granuloma inguinale oboInOwl:hasDbXref UMLS_CUI:C0018190 semapv:UnspecifiedMatching +DOID:9113 granuloma inguinale oboInOwl:hasDbXref UMLS:C0018190 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref GARD:12757 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICD9CM:205.0 semapv:UnspecifiedMatching @@ -36362,40 +36676,40 @@ DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref KEGG:05221 semapv:Unspecifie DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref NCI:C3171 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023467 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref UMLS:C0023467 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia skos:exactMatch OMIM:601626 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref ICD10CM:E85 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref ICD9CM:277.3 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref MESH:D000686 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref NCI:C2868 semapv:UnspecifiedMatching -DOID:9120 amyloidosis oboInOwl:hasDbXref UMLS_CUI:C0002726 semapv:UnspecifiedMatching +DOID:9120 amyloidosis oboInOwl:hasDbXref UMLS:C0002726 semapv:UnspecifiedMatching DOID:9120 amyloidosis skos:exactMatch MESH:D000686 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD10CM:B00.0 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD9CM:054.0 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD9CM:054.41 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref MESH:D007617 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref NCI:C35620 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0153037 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0854331 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0936250 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS:C0153037 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS:C0854331 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS:C0936250 semapv:UnspecifiedMatching DOID:9125 lower gum cancer oboInOwl:hasDbXref ICD10CM:C03.1 semapv:UnspecifiedMatching DOID:9125 lower gum cancer oboInOwl:hasDbXref ICD9CM:143.1 semapv:UnspecifiedMatching -DOID:9125 lower gum cancer oboInOwl:hasDbXref UMLS_CUI:C0432581 semapv:UnspecifiedMatching +DOID:9125 lower gum cancer oboInOwl:hasDbXref UMLS:C0432581 semapv:UnspecifiedMatching DOID:913 atrophic muscular disease oboInOwl:hasDbXref MESH:D020966 semapv:UnspecifiedMatching DOID:913 atrophic muscular disease oboInOwl:hasDbXref NCI:C84574 semapv:UnspecifiedMatching -DOID:913 atrophic muscular disease oboInOwl:hasDbXref UMLS_CUI:C0752352 semapv:UnspecifiedMatching +DOID:913 atrophic muscular disease oboInOwl:hasDbXref UMLS:C0752352 semapv:UnspecifiedMatching DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.5 semapv:UnspecifiedMatching DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.8 semapv:UnspecifiedMatching -DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0496854 semapv:UnspecifiedMatching +DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref UMLS:C0496854 semapv:UnspecifiedMatching DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref ICD10CM:D00.2 semapv:UnspecifiedMatching DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.2 semapv:UnspecifiedMatching -DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154060 semapv:UnspecifiedMatching +DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref UMLS:C0154060 semapv:UnspecifiedMatching DOID:914 peliosis hepatis oboInOwl:hasDbXref ICD10CM:K76.4 semapv:UnspecifiedMatching DOID:914 peliosis hepatis oboInOwl:hasDbXref MESH:D010382 semapv:UnspecifiedMatching -DOID:914 peliosis hepatis oboInOwl:hasDbXref UMLS_CUI:C0030781 semapv:UnspecifiedMatching +DOID:914 peliosis hepatis oboInOwl:hasDbXref UMLS:C0030781 semapv:UnspecifiedMatching DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref ICD10CM:H01.14 semapv:UnspecifiedMatching DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref ICD9CM:373.33 semapv:UnspecifiedMatching -DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155179 semapv:UnspecifiedMatching +DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref UMLS:C0155179 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.0 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD9CM:085.0 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref MESH:D007898 semapv:UnspecifiedMatching @@ -36404,86 +36718,86 @@ DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:Unspecifi DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611381 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611382 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ORDO:507 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023290 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref UMLS:C0023290 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref ICD10CM:C05.0 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref ICD9CM:145.2 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref NCI:C3528 semapv:UnspecifiedMatching -DOID:9149 hard palate cancer oboInOwl:hasDbXref UMLS_CUI:C0153375 semapv:UnspecifiedMatching +DOID:9149 hard palate cancer oboInOwl:hasDbXref UMLS:C0153375 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref ICD9CM:050.1 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref MESH:D012899 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref NCI:C34365 semapv:UnspecifiedMatching -DOID:9153 variola minor oboInOwl:hasDbXref UMLS_CUI:C0001906 semapv:UnspecifiedMatching +DOID:9153 variola minor oboInOwl:hasDbXref UMLS:C0001906 semapv:UnspecifiedMatching DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.2 semapv:UnspecifiedMatching DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref ICD9CM:085.5 semapv:UnspecifiedMatching DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref MESH:D007897 semapv:UnspecifiedMatching -DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C1328252 semapv:UnspecifiedMatching +DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref UMLS:C1328252 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref ICD10CM:A48.0 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref ICD9CM:040.0 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref MESH:D005738 semapv:UnspecifiedMatching -DOID:9159 gas gangrene oboInOwl:hasDbXref UMLS_CUI:C0017105 semapv:UnspecifiedMatching +DOID:9159 gas gangrene oboInOwl:hasDbXref UMLS:C0017105 semapv:UnspecifiedMatching DOID:916 liver benign neoplasm oboInOwl:hasDbXref NCI:C7103 semapv:UnspecifiedMatching DOID:916 liver benign neoplasm oboInOwl:hasDbXref NCI:C7106 semapv:UnspecifiedMatching -DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333419 semapv:UnspecifiedMatching -DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333976 semapv:UnspecifiedMatching +DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS:C1333419 semapv:UnspecifiedMatching +DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS:C1333976 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref ICD10CM:K22.0 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref ICD9CM:530.0 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref MESH:D004931 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref NCI:C84699 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching -DOID:9164 achalasia oboInOwl:hasDbXref UMLS_CUI:C0014848 semapv:UnspecifiedMatching +DOID:9164 achalasia oboInOwl:hasDbXref UMLS:C0014848 semapv:UnspecifiedMatching DOID:9164 achalasia skos:exactMatch OMIM:200400 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref ICD10CM:L98.1 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref ICD9CM:698.4 semapv:UnspecifiedMatching -DOID:9165 neurotic excoriation oboInOwl:hasDbXref UMLS_CUI:C1274184 semapv:UnspecifiedMatching +DOID:9165 neurotic excoriation oboInOwl:hasDbXref UMLS:C1274184 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10CM:D82.0 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD9CM:279.12 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref NCI:C3448 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS_CUI:C0043194 semapv:UnspecifiedMatching +DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS:C0043194 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome skos:exactMatch OMIM:301000 semapv:UnspecifiedMatching DOID:917 liver leiomyoma oboInOwl:hasDbXref NCI:C5753 semapv:UnspecifiedMatching -DOID:917 liver leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333968 semapv:UnspecifiedMatching +DOID:917 liver leiomyoma oboInOwl:hasDbXref UMLS:C1333968 semapv:UnspecifiedMatching DOID:9173 submandibular gland cancer oboInOwl:hasDbXref ICD10CM:C08.0 semapv:UnspecifiedMatching DOID:9173 submandibular gland cancer oboInOwl:hasDbXref ICD9CM:142.1 semapv:UnspecifiedMatching DOID:9173 submandibular gland cancer oboInOwl:hasDbXref NCI:C3526 semapv:UnspecifiedMatching -DOID:9173 submandibular gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153360 semapv:UnspecifiedMatching +DOID:9173 submandibular gland cancer oboInOwl:hasDbXref UMLS:C0153360 semapv:UnspecifiedMatching DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.2 semapv:UnspecifiedMatching DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.4 semapv:UnspecifiedMatching -DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154062 semapv:UnspecifiedMatching +DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref UMLS:C0154062 semapv:UnspecifiedMatching DOID:918 liver inflammatory pseudotumor oboInOwl:hasDbXref NCI:C5858 semapv:UnspecifiedMatching -DOID:918 liver inflammatory pseudotumor oboInOwl:hasDbXref UMLS_CUI:C1333967 semapv:UnspecifiedMatching +DOID:918 liver inflammatory pseudotumor oboInOwl:hasDbXref UMLS:C1333967 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref GARD:652 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref ICD10CM:A06 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref ICD9CM:006 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref MESH:D000562 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref NCI:C84551 semapv:UnspecifiedMatching -DOID:9181 amebiasis oboInOwl:hasDbXref UMLS_CUI:C0002438 semapv:UnspecifiedMatching +DOID:9181 amebiasis oboInOwl:hasDbXref UMLS:C0002438 semapv:UnspecifiedMatching DOID:9181 amebiasis skos:exactMatch MESH:D000562 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref GARD:7352 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref ICD10CM:L10 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref ICD9CM:694.4 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref NCI:C34909 semapv:UnspecifiedMatching -DOID:9182 pemphigus oboInOwl:hasDbXref UMLS_CUI:C0030807 semapv:UnspecifiedMatching +DOID:9182 pemphigus oboInOwl:hasDbXref UMLS:C0030807 semapv:UnspecifiedMatching DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref ICD10CM:C06.1 semapv:UnspecifiedMatching DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref ICD9CM:145.1 semapv:UnspecifiedMatching -DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref UMLS_CUI:C0153374 semapv:UnspecifiedMatching +DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref UMLS:C0153374 semapv:UnspecifiedMatching DOID:9191 diabetic macular edema oboInOwl:hasDbXref ICD9CM:362.07 semapv:UnspecifiedMatching -DOID:9191 diabetic macular edema oboInOwl:hasDbXref UMLS_CUI:C0730285 semapv:UnspecifiedMatching +DOID:9191 diabetic macular edema oboInOwl:hasDbXref UMLS:C0730285 semapv:UnspecifiedMatching DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref ICD10CM:K22.4 semapv:UnspecifiedMatching DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref ICD9CM:530.5 semapv:UnspecifiedMatching DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref MESH:D015154 semapv:UnspecifiedMatching -DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref UMLS_CUI:C0014858 semapv:UnspecifiedMatching +DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref UMLS:C0014858 semapv:UnspecifiedMatching DOID:92 speech disorder oboInOwl:hasDbXref MESH:D013064 semapv:UnspecifiedMatching DOID:92 speech disorder oboInOwl:hasDbXref NCI:C5041 semapv:UnspecifiedMatching -DOID:92 speech disorder oboInOwl:hasDbXref UMLS_CUI:C0037822 semapv:UnspecifiedMatching +DOID:92 speech disorder oboInOwl:hasDbXref UMLS:C0037822 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref GARD:12344 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref ICD10CM:L43 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref ICD9CM:697.0 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref MESH:D008010 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref NCI:C3189 semapv:UnspecifiedMatching -DOID:9201 lichen planus oboInOwl:hasDbXref UMLS_CUI:C0023646 semapv:UnspecifiedMatching +DOID:9201 lichen planus oboInOwl:hasDbXref UMLS:C0023646 semapv:UnspecifiedMatching DOID:9201 lichen planus skos:exactMatch MESH:D008010 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref EFO:0000280 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref GARD:20 semapv:UnspecifiedMatching @@ -36492,48 +36806,48 @@ DOID:9206 Barrett's esophagus oboInOwl:hasDbXref ICD9CM:530.85 semapv:Unspecifie DOID:9206 Barrett's esophagus oboInOwl:hasDbXref MESH:D001471 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref NCI:C2891 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref OMIM:614266 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref UMLS_CUI:C0004763 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref UMLS:C0004763 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus skos:exactMatch OMIM:614266 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref ICD10CM:G47.61 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref ICD9CM:327.51 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref MESH:D020189 semapv:UnspecifiedMatching -DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref UMLS_CUI:C0751774 semapv:UnspecifiedMatching +DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref UMLS:C0751774 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref GARD:7525 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref ICD10CM:B02.21 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref ICD9CM:053.11 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref MESH:D016697 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref NCI:C84763 semapv:UnspecifiedMatching -DOID:9210 herpes zoster oticus oboInOwl:hasDbXref UMLS_CUI:C0017409 semapv:UnspecifiedMatching +DOID:9210 herpes zoster oticus oboInOwl:hasDbXref UMLS:C0017409 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref GARD:7401 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD10CM:L44.0 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD9CM:696.4 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref NCI:C85014 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref UMLS_CUI:C0032027 semapv:UnspecifiedMatching +DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref UMLS:C0032027 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris skos:exactMatch OMIM:173200 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref MESH:D020182 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref NCI:C116046 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:107640 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:207720 semapv:UnspecifiedMatching -DOID:9220 central sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0520680 semapv:UnspecifiedMatching +DOID:9220 central sleep apnea oboInOwl:hasDbXref UMLS:C0520680 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref ICD9CM:705.81 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref MESH:D011146 semapv:UnspecifiedMatching -DOID:9230 pompholyx oboInOwl:hasDbXref UMLS_CUI:C0032633 semapv:UnspecifiedMatching +DOID:9230 pompholyx oboInOwl:hasDbXref UMLS:C0032633 semapv:UnspecifiedMatching DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.1 semapv:UnspecifiedMatching DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.9 semapv:UnspecifiedMatching -DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154092 semapv:UnspecifiedMatching +DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref UMLS:C0154092 semapv:UnspecifiedMatching DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref ICD10CM:C12 semapv:UnspecifiedMatching DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref ICD9CM:148.1 semapv:UnspecifiedMatching DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref NCI:C3531 semapv:UnspecifiedMatching -DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153400 semapv:UnspecifiedMatching +DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref UMLS:C0153400 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref GARD:6377 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD10CM:I73.81 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD9CM:443.82 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref MESH:D004916 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref NCI:C34593 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref UMLS_CUI:C0014804 semapv:UnspecifiedMatching +DOID:9240 erythromelalgia oboInOwl:hasDbXref UMLS:C0014804 semapv:UnspecifiedMatching DOID:9240 erythromelalgia skos:exactMatch OMIM:133020 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref GARD:804 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref ICD10CM:Q44.7 semapv:UnspecifiedMatching @@ -36542,29 +36856,29 @@ DOID:9245 Alagille syndrome oboInOwl:hasDbXref NCI:C35139 semapv:UnspecifiedMatc DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref ORDO:52 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref UMLS_CUI:C0085280 semapv:UnspecifiedMatching +DOID:9245 Alagille syndrome oboInOwl:hasDbXref UMLS:C0085280 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome skos:exactMatch MESH:D016738 semapv:UnspecifiedMatching DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref MESH:D028243 semapv:UnspecifiedMatching DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref ORDO:85458 semapv:UnspecifiedMatching -DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C0268393 semapv:UnspecifiedMatching -DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C1510489 semapv:UnspecifiedMatching -DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C1527338 semapv:UnspecifiedMatching -DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C1956349 semapv:UnspecifiedMatching +DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS:C0268393 semapv:UnspecifiedMatching +DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS:C1510489 semapv:UnspecifiedMatching +DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS:C1527338 semapv:UnspecifiedMatching +DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS:C1956349 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref GARD:7305 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref NCI:C84987 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref OMIM:146510 semapv:UnspecifiedMatching -DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS_CUI:C0265220 semapv:UnspecifiedMatching +DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS:C0265220 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome skos:exactMatch OMIM:146510 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref MESH:C537599 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref OMIM:269860 semapv:UnspecifiedMatching -DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref UMLS_CUI:C0432198 semapv:UnspecifiedMatching +DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref UMLS:C0432198 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome skos:exactMatch OMIM:269860 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref GARD:5721 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref MESH:D055673 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref NCI:C84531 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref UMLS_CUI:C0796147 semapv:UnspecifiedMatching +DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref UMLS:C0796147 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome skos:exactMatch MESH:D055673 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome skos:exactMatch OMIM:200990 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref GARD:5793 semapv:UnspecifiedMatching @@ -36572,25 +36886,25 @@ DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD10CM:E72.9 semapv: DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD9CM:270 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref MESH:D000592 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref NCI:C97090 semapv:UnspecifiedMatching -DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0002514 semapv:UnspecifiedMatching +DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref UMLS:C0002514 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref GARD:8598 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10CM:C49.A semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICDO:8936/3 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref NCI:C3868 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:606764 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0238198 semapv:UnspecifiedMatching +DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C0238198 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor skos:exactMatch OMIM:606764 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref ICD10CM:C94.3 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref ICDO:9742/3 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref NCI:C3169 semapv:UnspecifiedMatching -DOID:9254 mast-cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023461 semapv:UnspecifiedMatching +DOID:9254 mast-cell leukemia oboInOwl:hasDbXref UMLS:C0023461 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref GARD:8436 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref MESH:C563003 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref ORDO:282 semapv:UnspecifiedMatching -DOID:9255 frontotemporal dementia oboInOwl:hasDbXref UMLS_CUI:C0520716 semapv:UnspecifiedMatching +DOID:9255 frontotemporal dementia oboInOwl:hasDbXref UMLS:C0520716 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia skos:exactMatch MESH:D057180 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia skos:exactMatch OMIM:600274 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref ICD10CM:C18.9 semapv:UnspecifiedMatching @@ -36599,8 +36913,8 @@ DOID:9256 colorectal cancer oboInOwl:hasDbXref MESH:D015179 semapv:UnspecifiedMa DOID:9256 colorectal cancer oboInOwl:hasDbXref NCI:C2956 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref NCI:C4978 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref OMIM:114500 semapv:UnspecifiedMatching -DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS_CUI:C0009404 semapv:UnspecifiedMatching -DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS_CUI:C0346629 semapv:UnspecifiedMatching +DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS:C0009404 semapv:UnspecifiedMatching +DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS:C0346629 semapv:UnspecifiedMatching DOID:9256 colorectal cancer skos:exactMatch OMIM:114500 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref GARD:5525 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching @@ -36609,9 +36923,9 @@ DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref NCI:C85222 semapv:UnspecifiedM DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref OMIMPS:193500 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref ORDO:3440 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref ORDO:895 semapv:UnspecifiedMatching -DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS_CUI:C0079661 semapv:UnspecifiedMatching -DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS_CUI:C1847800 semapv:UnspecifiedMatching -DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS_CUI:C3266898 semapv:UnspecifiedMatching +DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C0079661 semapv:UnspecifiedMatching +DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching +DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome skos:exactMatch OMIMPS:193500 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref GARD:7163 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11 semapv:UnspecifiedMatching @@ -36629,12 +36943,12 @@ DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref NCI:C9321 semapv:UnspecifiedM DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:161550 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:607107 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ORDO:150 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153392 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153393 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153394 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153395 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153396 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238301 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153392 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153393 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153394 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153395 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153396 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0238301 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref GARD:10770 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref ICD10CM:E72.11 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref MESH:D006712 semapv:UnspecifiedMatching @@ -36642,30 +36956,30 @@ DOID:9263 homocystinuria oboInOwl:hasDbXref NCI:C84765 semapv:UnspecifiedMatchin DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236250 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref ORDO:394 semapv:UnspecifiedMatching -DOID:9263 homocystinuria oboInOwl:hasDbXref UMLS_CUI:C0019880 semapv:UnspecifiedMatching +DOID:9263 homocystinuria oboInOwl:hasDbXref UMLS:C0019880 semapv:UnspecifiedMatching DOID:9265 histidine metabolism disease oboInOwl:hasDbXref ICD10CM:E70.4 semapv:UnspecifiedMatching DOID:9265 histidine metabolism disease oboInOwl:hasDbXref ICD9CM:270.5 semapv:UnspecifiedMatching -DOID:9265 histidine metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0268512 semapv:UnspecifiedMatching +DOID:9265 histidine metabolism disease oboInOwl:hasDbXref UMLS:C0268512 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref GARD:6237 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref ICD10CM:E72.01 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref MESH:D003555 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref NCI:C84664 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref ORDO:214 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref UMLS_CUI:C0010691 semapv:UnspecifiedMatching +DOID:9266 cystinuria oboInOwl:hasDbXref UMLS:C0010691 semapv:UnspecifiedMatching DOID:9266 cystinuria skos:exactMatch OMIM:220100 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref GARD:7837 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD10CM:E72.2 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD9CM:270.6 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref MESH:D056806 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref NCI:C84785 semapv:UnspecifiedMatching -DOID:9267 urea cycle disorder oboInOwl:hasDbXref UMLS_CUI:C0154246 semapv:UnspecifiedMatching +DOID:9267 urea cycle disorder oboInOwl:hasDbXref UMLS:C0154246 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref GARD:7219 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref ICD10CM:E72.51 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref NCI:C84937 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0751748 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy skos:exactMatch OMIM:605899 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref GARD:3228 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ICD10CM:E71.0 semapv:UnspecifiedMatching @@ -36675,14 +36989,14 @@ DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:246900 semapv:Unspec DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ORDO:511 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref UMLS_CUI:C0024776 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref UMLS:C0024776 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref GARD:5775 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref NCI:C84546 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref OMIM:203500 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref ORDO:56 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref UMLS_CUI:C0002066 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria oboInOwl:hasDbXref UMLS:C0002066 semapv:UnspecifiedMatching DOID:9270 alkaptonuria skos:exactMatch MESH:D000474 semapv:UnspecifiedMatching DOID:9270 alkaptonuria skos:exactMatch OMIM:203500 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref GARD:8391 semapv:UnspecifiedMatching @@ -36690,13 +37004,13 @@ DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref ICD10CM:E DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref NCI:C84957 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref OMIM:311250 semapv:UnspecifiedMatching -DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268542 semapv:UnspecifiedMatching +DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268542 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency skos:exactMatch OMIM:311250 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref ICD10CM:E72.23 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref MESH:D020159 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref NCI:C84639 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref ORDO:187 semapv:UnspecifiedMatching -DOID:9273 citrullinemia oboInOwl:hasDbXref UMLS_CUI:C0175683 semapv:UnspecifiedMatching +DOID:9273 citrullinemia oboInOwl:hasDbXref UMLS:C0175683 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref GARD:2828 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref ICD10CM:E72.3 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref MESH:D020167 semapv:UnspecifiedMatching @@ -36704,28 +37018,28 @@ DOID:9274 hyperlysinemia oboInOwl:hasDbXref NCI:C123433 semapv:UnspecifiedMatchi DOID:9274 hyperlysinemia oboInOwl:hasDbXref OMIM:238700 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref OMIM:238710 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref ORDO:2203 semapv:UnspecifiedMatching -DOID:9274 hyperlysinemia oboInOwl:hasDbXref UMLS_CUI:C0268553 semapv:UnspecifiedMatching +DOID:9274 hyperlysinemia oboInOwl:hasDbXref UMLS:C0268553 semapv:UnspecifiedMatching DOID:9275 tyrosinemia oboInOwl:hasDbXref ICD10CM:E70.21 semapv:UnspecifiedMatching -DOID:9275 tyrosinemia oboInOwl:hasDbXref UMLS_CUI:C0268483 semapv:UnspecifiedMatching +DOID:9275 tyrosinemia oboInOwl:hasDbXref UMLS:C0268483 semapv:UnspecifiedMatching DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref ICD9CM:334.2 semapv:UnspecifiedMatching DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref MESH:D013132 semapv:UnspecifiedMatching -DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref UMLS_CUI:C0033132 semapv:UnspecifiedMatching +DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref UMLS:C0033132 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref ICD10CM:E72.21 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref NCI:C84568 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref OMIM:207800 semapv:UnspecifiedMatching -DOID:9278 hyperargininemia oboInOwl:hasDbXref UMLS_CUI:C0268548 semapv:UnspecifiedMatching +DOID:9278 hyperargininemia oboInOwl:hasDbXref UMLS:C0268548 semapv:UnspecifiedMatching DOID:9278 hyperargininemia skos:exactMatch OMIM:207800 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref MESH:D020138 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref NCI:C84770 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref OMIM:603174 semapv:UnspecifiedMatching -DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref UMLS_CUI:C0598608 semapv:UnspecifiedMatching +DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref UMLS:C0598608 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia skos:exactMatch OMIM:603174 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref GARD:7269 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref MESH:D020165 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref NCI:C84612 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref OMIM:237300 semapv:UnspecifiedMatching -DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0751753 semapv:UnspecifiedMatching +DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref UMLS:C0751753 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch OMIM:237300 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref GARD:7383 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref ICD9CM:270.1 semapv:UnspecifiedMatching @@ -36734,90 +37048,90 @@ DOID:9281 phenylketonuria oboInOwl:hasDbXref MESH:D017042 semapv:UnspecifiedMatc DOID:9281 phenylketonuria oboInOwl:hasDbXref NCI:C81315 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref ORDO:716 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS_CUI:C0031485 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS_CUI:C0085547 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS:C0031485 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS:C0085547 semapv:UnspecifiedMatching DOID:9281 phenylketonuria skos:exactMatch OMIM:261600 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref ICD10CM:H40.05 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref ICD9CM:365.04 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref MESH:D009798 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref NCI:C3285 semapv:UnspecifiedMatching -DOID:9282 ocular hypertension oboInOwl:hasDbXref UMLS_CUI:C0028840 semapv:UnspecifiedMatching +DOID:9282 ocular hypertension oboInOwl:hasDbXref UMLS:C0028840 semapv:UnspecifiedMatching DOID:9283 borderline glaucoma oboInOwl:hasDbXref ICD10CM:H40.00 semapv:UnspecifiedMatching DOID:9283 borderline glaucoma oboInOwl:hasDbXref ICD9CM:365.00 semapv:UnspecifiedMatching -DOID:9283 borderline glaucoma oboInOwl:hasDbXref UMLS_CUI:C0549470 semapv:UnspecifiedMatching +DOID:9283 borderline glaucoma oboInOwl:hasDbXref UMLS:C0549470 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref GARD:10016 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref ICD10CM:N48.3 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref ICD9CM:607.3 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref MESH:D011317 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref NCI:C85022 semapv:UnspecifiedMatching -DOID:9286 priapism oboInOwl:hasDbXref UMLS_CUI:C0033117 semapv:UnspecifiedMatching +DOID:9286 priapism oboInOwl:hasDbXref UMLS:C0033117 semapv:UnspecifiedMatching DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref ICD10CM:H05.82 semapv:UnspecifiedMatching DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref ICD9CM:376.82 semapv:UnspecifiedMatching -DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref UMLS_CUI:C0155286 semapv:UnspecifiedMatching +DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref UMLS:C0155286 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref EFO:0003959 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref ICD10CM:Q36 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref ICD9CM:749.1 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref ICD9CM:749.11 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref MESH:D002971 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref NCI:C87175 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref UMLS_CUI:C0008924 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref UMLS_CUI:C0158651 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref UMLS:C0008924 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref UMLS:C0158651 semapv:UnspecifiedMatching DOID:9297 lip disease oboInOwl:hasDbXref ICD10CM:K13.0 semapv:UnspecifiedMatching DOID:9297 lip disease oboInOwl:hasDbXref ICD9CM:528.5 semapv:UnspecifiedMatching DOID:9297 lip disease oboInOwl:hasDbXref MESH:D008047 semapv:UnspecifiedMatching DOID:9297 lip disease oboInOwl:hasDbXref NCI:C26818 semapv:UnspecifiedMatching -DOID:9297 lip disease oboInOwl:hasDbXref UMLS_CUI:C0023760 semapv:UnspecifiedMatching +DOID:9297 lip disease oboInOwl:hasDbXref UMLS:C0023760 semapv:UnspecifiedMatching DOID:9299 myocardium cancer oboInOwl:hasDbXref NCI:C4569 semapv:UnspecifiedMatching DOID:9299 myocardium cancer oboInOwl:hasDbXref NCI:C5349 semapv:UnspecifiedMatching -DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346611 semapv:UnspecifiedMatching -DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290402 semapv:UnspecifiedMatching +DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS:C0346611 semapv:UnspecifiedMatching +DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS:C1290402 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref ICD10CM:F80.9 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref MESH:D007806 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref NCI:C97155 semapv:UnspecifiedMatching -DOID:93 language disorder oboInOwl:hasDbXref UMLS_CUI:C0023015 semapv:UnspecifiedMatching +DOID:93 language disorder oboInOwl:hasDbXref UMLS:C0023015 semapv:UnspecifiedMatching DOID:930 orbital disease oboInOwl:hasDbXref ICD10CM:H05.9 semapv:UnspecifiedMatching DOID:930 orbital disease oboInOwl:hasDbXref ICD9CM:376.9 semapv:UnspecifiedMatching DOID:930 orbital disease oboInOwl:hasDbXref MESH:D009916 semapv:UnspecifiedMatching -DOID:930 orbital disease oboInOwl:hasDbXref UMLS_CUI:C0029182 semapv:UnspecifiedMatching +DOID:930 orbital disease oboInOwl:hasDbXref UMLS:C0029182 semapv:UnspecifiedMatching DOID:9300 neurofibroma of the heart oboInOwl:hasDbXref NCI:C5359 semapv:UnspecifiedMatching -DOID:9300 neurofibroma of the heart oboInOwl:hasDbXref UMLS_CUI:C1096349 semapv:UnspecifiedMatching +DOID:9300 neurofibroma of the heart oboInOwl:hasDbXref UMLS:C1096349 semapv:UnspecifiedMatching DOID:9305 splenic tuberculosis oboInOwl:hasDbXref ICD10CM:A18.85 semapv:UnspecifiedMatching DOID:9305 splenic tuberculosis oboInOwl:hasDbXref ICD9CM:017.7 semapv:UnspecifiedMatching DOID:9305 splenic tuberculosis oboInOwl:hasDbXref MESH:D014400 semapv:UnspecifiedMatching -DOID:9305 splenic tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041331 semapv:UnspecifiedMatching +DOID:9305 splenic tuberculosis oboInOwl:hasDbXref UMLS:C0041331 semapv:UnspecifiedMatching DOID:9306 mechanical strabismus oboInOwl:hasDbXref ICD10CM:H50.6 semapv:UnspecifiedMatching DOID:9306 mechanical strabismus oboInOwl:hasDbXref ICD9CM:378.6 semapv:UnspecifiedMatching DOID:9306 mechanical strabismus oboInOwl:hasDbXref MESH:D013285 semapv:UnspecifiedMatching -DOID:9306 mechanical strabismus oboInOwl:hasDbXref UMLS_CUI:C0152223 semapv:UnspecifiedMatching +DOID:9306 mechanical strabismus oboInOwl:hasDbXref UMLS:C0152223 semapv:UnspecifiedMatching DOID:9307 rectal prolapse oboInOwl:hasDbXref ICD10CM:K62.3 semapv:UnspecifiedMatching DOID:9307 rectal prolapse oboInOwl:hasDbXref ICD9CM:569.1 semapv:UnspecifiedMatching DOID:9307 rectal prolapse oboInOwl:hasDbXref MESH:D012005 semapv:UnspecifiedMatching DOID:9307 rectal prolapse oboInOwl:hasDbXref NCI:C34973 semapv:UnspecifiedMatching -DOID:9307 rectal prolapse oboInOwl:hasDbXref UMLS_CUI:C0034888 semapv:UnspecifiedMatching +DOID:9307 rectal prolapse oboInOwl:hasDbXref UMLS:C0034888 semapv:UnspecifiedMatching DOID:931 monieziasis oboInOwl:hasDbXref MESH:D008989 semapv:UnspecifiedMatching -DOID:931 monieziasis oboInOwl:hasDbXref UMLS_CUI:C0026414 semapv:UnspecifiedMatching +DOID:931 monieziasis oboInOwl:hasDbXref UMLS:C0026414 semapv:UnspecifiedMatching DOID:9310 nasal cavity benign neoplasm oboInOwl:hasDbXref NCI:C4603 semapv:UnspecifiedMatching -DOID:9310 nasal cavity benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0347215 semapv:UnspecifiedMatching +DOID:9310 nasal cavity benign neoplasm oboInOwl:hasDbXref UMLS:C0347215 semapv:UnspecifiedMatching DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref ICD10CM:J32.2 semapv:UnspecifiedMatching DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref ICD9CM:473.2 semapv:UnspecifiedMatching DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref NCI:C34472 semapv:UnspecifiedMatching -DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref UMLS_CUI:C0008681 semapv:UnspecifiedMatching +DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref UMLS:C0008681 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref ICD10CM:I89.1 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref ICD9CM:457.2 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref MESH:D008205 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref NCI:C34790 semapv:UnspecifiedMatching -DOID:9317 lymphangitis oboInOwl:hasDbXref UMLS_CUI:C0024225 semapv:UnspecifiedMatching +DOID:9317 lymphangitis oboInOwl:hasDbXref UMLS:C0024225 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD10CM:H53.42 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD10CM:H53.45 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD9CM:368.42 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD9CM:368.44 semapv:UnspecifiedMatching -DOID:9335 scotoma oboInOwl:hasDbXref UMLS_CUI:C0029657 semapv:UnspecifiedMatching -DOID:9335 scotoma oboInOwl:hasDbXref UMLS_CUI:C0152192 semapv:UnspecifiedMatching +DOID:9335 scotoma oboInOwl:hasDbXref UMLS:C0029657 semapv:UnspecifiedMatching +DOID:9335 scotoma oboInOwl:hasDbXref UMLS:C0152192 semapv:UnspecifiedMatching DOID:9336 bestiality oboInOwl:hasDbXref ICD9CM:302.1 semapv:UnspecifiedMatching -DOID:9336 bestiality oboInOwl:hasDbXref UMLS_CUI:C0152186 semapv:UnspecifiedMatching +DOID:9336 bestiality oboInOwl:hasDbXref UMLS:C0152186 semapv:UnspecifiedMatching DOID:9339 urethral false passage oboInOwl:hasDbXref ICD10CM:N36.5 semapv:UnspecifiedMatching DOID:9339 urethral false passage oboInOwl:hasDbXref ICD9CM:599.4 semapv:UnspecifiedMatching -DOID:9339 urethral false passage oboInOwl:hasDbXref UMLS_CUI:C0156286 semapv:UnspecifiedMatching +DOID:9339 urethral false passage oboInOwl:hasDbXref UMLS:C0156286 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref ICD10CM:A94 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref ICD10CM:B34.9 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref ICD9CM:060-066.99 semapv:UnspecifiedMatching @@ -36825,23 +37139,23 @@ DOID:934 viral infectious disease oboInOwl:hasDbXref MESH:D001102 semapv:Unspeci DOID:934 viral infectious disease oboInOwl:hasDbXref MESH:D014777 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref NCI:C3439 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref NCI:C34396 semapv:UnspecifiedMatching -DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS_CUI:C0003723 semapv:UnspecifiedMatching -DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS_CUI:C0042769 semapv:UnspecifiedMatching +DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS:C0003723 semapv:UnspecifiedMatching +DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS:C0042769 semapv:UnspecifiedMatching DOID:9341 urethral diverticulum oboInOwl:hasDbXref ICD10CM:N36.1 semapv:UnspecifiedMatching DOID:9341 urethral diverticulum oboInOwl:hasDbXref ICD9CM:599.2 semapv:UnspecifiedMatching DOID:9341 urethral diverticulum oboInOwl:hasDbXref NCI:C39861 semapv:UnspecifiedMatching -DOID:9341 urethral diverticulum oboInOwl:hasDbXref UMLS_CUI:C0152443 semapv:UnspecifiedMatching +DOID:9341 urethral diverticulum oboInOwl:hasDbXref UMLS:C0152443 semapv:UnspecifiedMatching DOID:9346 Taylor's syndrome oboInOwl:hasDbXref ICD9CM:625.5 semapv:UnspecifiedMatching -DOID:9346 Taylor's syndrome oboInOwl:hasDbXref UMLS_CUI:C0152078 semapv:UnspecifiedMatching +DOID:9346 Taylor's syndrome oboInOwl:hasDbXref UMLS:C0152078 semapv:UnspecifiedMatching DOID:9348 carotid artery dissection oboInOwl:hasDbXref ICD10CM:I77.71 semapv:UnspecifiedMatching DOID:9348 carotid artery dissection oboInOwl:hasDbXref ICD9CM:443.21 semapv:UnspecifiedMatching DOID:9348 carotid artery dissection oboInOwl:hasDbXref NCI:C125662 semapv:UnspecifiedMatching -DOID:9348 carotid artery dissection oboInOwl:hasDbXref UMLS_CUI:C0338585 semapv:UnspecifiedMatching +DOID:9348 carotid artery dissection oboInOwl:hasDbXref UMLS:C0338585 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E08-E13 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref ICD9CM:250 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref MESH:D003920 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref NCI:C2985 semapv:UnspecifiedMatching -DOID:9351 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011849 semapv:UnspecifiedMatching +DOID:9351 diabetes mellitus oboInOwl:hasDbXref UMLS:C0011849 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref EFO:0001360 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E11 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref KEGG:04930 semapv:UnspecifiedMatching @@ -36852,9 +37166,9 @@ DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601283 semapv:Unspeci DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601407 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:603694 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:608036 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011860 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref UMLS:C0011860 semapv:UnspecifiedMatching DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref ICD9CM:726.63 semapv:UnspecifiedMatching -DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref UMLS_CUI:C0158316 semapv:UnspecifiedMatching +DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref UMLS:C0158316 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref ICD10CM:G93.40 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref ICD10CM:G93.9 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref ICD9CM:348.30 semapv:UnspecifiedMatching @@ -36862,84 +37176,84 @@ DOID:936 brain disease oboInOwl:hasDbXref ICD9CM:348.9 semapv:UnspecifiedMatchin DOID:936 brain disease oboInOwl:hasDbXref MESH:D001927 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref NCI:C26920 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref NCI:C96413 semapv:UnspecifiedMatching -DOID:936 brain disease oboInOwl:hasDbXref UMLS_CUI:C0006111 semapv:UnspecifiedMatching -DOID:936 brain disease oboInOwl:hasDbXref UMLS_CUI:C0085584 semapv:UnspecifiedMatching +DOID:936 brain disease oboInOwl:hasDbXref UMLS:C0006111 semapv:UnspecifiedMatching +DOID:936 brain disease oboInOwl:hasDbXref UMLS:C0085584 semapv:UnspecifiedMatching DOID:9360 intrinsic asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching DOID:9360 intrinsic asthma oboInOwl:hasDbXref ICD9CM:493.1 semapv:UnspecifiedMatching -DOID:9360 intrinsic asthma oboInOwl:hasDbXref UMLS_CUI:C0155880 semapv:UnspecifiedMatching +DOID:9360 intrinsic asthma oboInOwl:hasDbXref UMLS:C0155880 semapv:UnspecifiedMatching DOID:9362 status asthmaticus oboInOwl:hasDbXref ICD9CM:493.91 semapv:UnspecifiedMatching DOID:9362 status asthmaticus oboInOwl:hasDbXref MESH:D013224 semapv:UnspecifiedMatching DOID:9362 status asthmaticus oboInOwl:hasDbXref NCI:C122577 semapv:UnspecifiedMatching -DOID:9362 status asthmaticus oboInOwl:hasDbXref UMLS_CUI:C0038218 semapv:UnspecifiedMatching +DOID:9362 status asthmaticus oboInOwl:hasDbXref UMLS:C0038218 semapv:UnspecifiedMatching DOID:9365 vesiculitis oboInOwl:hasDbXref ICD10CM:N49.0 semapv:UnspecifiedMatching DOID:9365 vesiculitis oboInOwl:hasDbXref ICD9CM:608.0 semapv:UnspecifiedMatching -DOID:9365 vesiculitis oboInOwl:hasDbXref UMLS_CUI:C0042588 semapv:UnspecifiedMatching +DOID:9365 vesiculitis oboInOwl:hasDbXref UMLS:C0042588 semapv:UnspecifiedMatching DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.2 semapv:UnspecifiedMatching DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.40 semapv:UnspecifiedMatching DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref MESH:D007637 semapv:UnspecifiedMatching DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref NCI:C34744 semapv:UnspecifiedMatching -DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0022573 semapv:UnspecifiedMatching +DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0022573 semapv:UnspecifiedMatching DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref ICD10CM:H05.11 semapv:UnspecifiedMatching DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref MESH:D016727 semapv:UnspecifiedMatching -DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref UMLS_CUI:C0085270 semapv:UnspecifiedMatching +DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref UMLS:C0085270 semapv:UnspecifiedMatching DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref ICD10CM:H05.20 semapv:UnspecifiedMatching DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref ICD9CM:376.30 semapv:UnspecifiedMatching DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref MESH:D005094 semapv:UnspecifiedMatching DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref NCI:C87114 semapv:UnspecifiedMatching -DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0015300 semapv:UnspecifiedMatching +DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref UMLS:C0015300 semapv:UnspecifiedMatching DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref GARD:6791 semapv:UnspecifiedMatching DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref ICD10CM:H20.81 semapv:UnspecifiedMatching DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref ICD9CM:364.21 semapv:UnspecifiedMatching -DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref UMLS_CUI:C0016782 semapv:UnspecifiedMatching +DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref UMLS:C0016782 semapv:UnspecifiedMatching DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref GARD:10737 semapv:UnspecifiedMatching DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref ICD9CM:364.22 semapv:UnspecifiedMatching -DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref UMLS_CUI:C0152138 semapv:UnspecifiedMatching +DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref UMLS:C0152138 semapv:UnspecifiedMatching DOID:9383 iridocyclitis oboInOwl:hasDbXref ICD10CM:H20.01 semapv:UnspecifiedMatching DOID:9383 iridocyclitis oboInOwl:hasDbXref ICD9CM:364.01 semapv:UnspecifiedMatching DOID:9383 iridocyclitis oboInOwl:hasDbXref ICD9CM:364.2 semapv:UnspecifiedMatching -DOID:9383 iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0007832 semapv:UnspecifiedMatching -DOID:9383 iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0154909 semapv:UnspecifiedMatching +DOID:9383 iridocyclitis oboInOwl:hasDbXref UMLS:C0007832 semapv:UnspecifiedMatching +DOID:9383 iridocyclitis oboInOwl:hasDbXref UMLS:C0154909 semapv:UnspecifiedMatching DOID:9383 iridocyclitis skos:exactMatch MESH:D015863 semapv:UnspecifiedMatching DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref ICD10CM:A54.32 semapv:UnspecifiedMatching DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref ICD9CM:098.41 semapv:UnspecifiedMatching -DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0153212 semapv:UnspecifiedMatching +DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref UMLS:C0153212 semapv:UnspecifiedMatching DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref ICD10CM:H20.2 semapv:UnspecifiedMatching DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref ICD9CM:364.23 semapv:UnspecifiedMatching -DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0339320 semapv:UnspecifiedMatching +DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref UMLS:C0339320 semapv:UnspecifiedMatching DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref ICD10CM:H20.03 semapv:UnspecifiedMatching DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref ICD9CM:364.03 semapv:UnspecifiedMatching -DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0154911 semapv:UnspecifiedMatching +DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref UMLS:C0154911 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref ICD10CM:J04.1 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref ICD9CM:464.1 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref MESH:D014136 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref NCI:C78643 semapv:UnspecifiedMatching -DOID:9392 tracheitis oboInOwl:hasDbXref UMLS_CUI:C0040584 semapv:UnspecifiedMatching -DOID:9392 tracheitis oboInOwl:hasDbXref UMLS_CUI:C0149513 semapv:UnspecifiedMatching +DOID:9392 tracheitis oboInOwl:hasDbXref UMLS:C0040584 semapv:UnspecifiedMatching +DOID:9392 tracheitis oboInOwl:hasDbXref UMLS:C0149513 semapv:UnspecifiedMatching DOID:9392 tracheitis skos:exactMatch MESH:D014136 semapv:UnspecifiedMatching DOID:9395 croup oboInOwl:hasDbXref ICD10CM:J05.0 semapv:UnspecifiedMatching DOID:9395 croup oboInOwl:hasDbXref ICD9CM:464.4 semapv:UnspecifiedMatching DOID:9395 croup oboInOwl:hasDbXref MESH:D003440 semapv:UnspecifiedMatching DOID:9395 croup oboInOwl:hasDbXref NCI:C26735 semapv:UnspecifiedMatching -DOID:9395 croup oboInOwl:hasDbXref UMLS_CUI:C0010380 semapv:UnspecifiedMatching +DOID:9395 croup oboInOwl:hasDbXref UMLS:C0010380 semapv:UnspecifiedMatching DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD10CM:J04.0 semapv:UnspecifiedMatching DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD9CM:464.0 semapv:UnspecifiedMatching DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD9CM:464.01 semapv:UnspecifiedMatching DOID:9396 acute laryngitis oboInOwl:hasDbXref NCI:C26688 semapv:UnspecifiedMatching -DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS_CUI:C0001327 semapv:UnspecifiedMatching -DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS_CUI:C0949123 semapv:UnspecifiedMatching +DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS:C0001327 semapv:UnspecifiedMatching +DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS:C0949123 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref ICD10CM:J05.1 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref ICD10CM:J05.10 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref ICD9CM:464.3 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref MESH:D004826 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref NCI:C116007 semapv:UnspecifiedMatching -DOID:9398 epiglottitis oboInOwl:hasDbXref UMLS_CUI:C0014541 semapv:UnspecifiedMatching -DOID:9398 epiglottitis oboInOwl:hasDbXref UMLS_CUI:C0155814 semapv:UnspecifiedMatching +DOID:9398 epiglottitis oboInOwl:hasDbXref UMLS:C0014541 semapv:UnspecifiedMatching +DOID:9398 epiglottitis oboInOwl:hasDbXref UMLS:C0155814 semapv:UnspecifiedMatching DOID:9401 epididymo-orchitis oboInOwl:hasDbXref ICD10CM:N45.3 semapv:UnspecifiedMatching DOID:9401 epididymo-orchitis oboInOwl:hasDbXref ICD9CM:604 semapv:UnspecifiedMatching -DOID:9401 epididymo-orchitis oboInOwl:hasDbXref UMLS_CUI:C0149881 semapv:UnspecifiedMatching +DOID:9401 epididymo-orchitis oboInOwl:hasDbXref UMLS:C0149881 semapv:UnspecifiedMatching DOID:9402 epididymitis oboInOwl:hasDbXref ICD10CM:N45.1 semapv:UnspecifiedMatching DOID:9402 epididymitis oboInOwl:hasDbXref MESH:D004823 semapv:UnspecifiedMatching -DOID:9402 epididymitis oboInOwl:hasDbXref UMLS_CUI:C0014534 semapv:UnspecifiedMatching +DOID:9402 epididymitis oboInOwl:hasDbXref UMLS:C0014534 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref GARD:2917 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref MESH:D007018 semapv:UnspecifiedMatching @@ -36950,91 +37264,91 @@ DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:262700 semapv:UnspecifiedMatch DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613038 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613986 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref ORDO:95494 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref UMLS_CUI:C0020635 semapv:UnspecifiedMatching +DOID:9406 hypopituitarism oboInOwl:hasDbXref UMLS:C0020635 semapv:UnspecifiedMatching DOID:9407 strictly posterior acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410.60 semapv:UnspecifiedMatching -DOID:9407 strictly posterior acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155652 semapv:UnspecifiedMatching +DOID:9407 strictly posterior acute myocardial infarction oboInOwl:hasDbXref UMLS:C0155652 semapv:UnspecifiedMatching DOID:9408 acute myocardial infarction oboInOwl:hasDbXref ICD10CM:I21 semapv:UnspecifiedMatching DOID:9408 acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410 semapv:UnspecifiedMatching DOID:9408 acute myocardial infarction oboInOwl:hasDbXref NCI:C35204 semapv:UnspecifiedMatching -DOID:9408 acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155626 semapv:UnspecifiedMatching +DOID:9408 acute myocardial infarction oboInOwl:hasDbXref UMLS:C0155626 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref ICD10CM:E23.2 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref ICD9CM:253.5 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref MESH:D003919 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref NCI:C43263 semapv:UnspecifiedMatching -DOID:9409 diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0011848 semapv:UnspecifiedMatching +DOID:9409 diabetes insipidus oboInOwl:hasDbXref UMLS:C0011848 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD9CM:253.2 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref MESH:C580003 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref NCI:C110940 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref OMIMPS:613038 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref ORDO:90695 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref UMLS_CUI:C0242343 semapv:UnspecifiedMatching +DOID:9410 panhypopituitarism oboInOwl:hasDbXref UMLS:C0242343 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism skos:exactMatch OMIMPS:613038 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref ICD9CM:493.0 semapv:UnspecifiedMatching -DOID:9415 allergic asthma oboInOwl:hasDbXref UMLS_CUI:C0155877 semapv:UnspecifiedMatching +DOID:9415 allergic asthma oboInOwl:hasDbXref UMLS:C0155877 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref ICD10CM:H01.0 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref ICD9CM:373.0 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref ICD9CM:373.4 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref MESH:D001762 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref NCI:C112183 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref UMLS_CUI:C0005741 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155181 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref UMLS:C0005741 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref UMLS:C0155181 semapv:UnspecifiedMatching DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref ICD10CM:I67.4 semapv:UnspecifiedMatching DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref ICD9CM:437.2 semapv:UnspecifiedMatching DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref MESH:D020343 semapv:UnspecifiedMatching DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref NCI:C3503 semapv:UnspecifiedMatching -DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0151620 semapv:UnspecifiedMatching +DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref UMLS:C0151620 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref MESH:D019586 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref NCI:C84791 semapv:UnspecifiedMatching -DOID:9428 intracranial hypertension oboInOwl:hasDbXref UMLS_CUI:C0151740 semapv:UnspecifiedMatching +DOID:9428 intracranial hypertension oboInOwl:hasDbXref UMLS:C0151740 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref GARD:7548 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref ICD9CM:271.4 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria oboInOwl:hasDbXref UMLS_CUI:C0017980 semapv:UnspecifiedMatching +DOID:9432 renal glycosuria oboInOwl:hasDbXref UMLS:C0017980 semapv:UnspecifiedMatching DOID:9432 renal glycosuria skos:exactMatch OMIM:233100 semapv:UnspecifiedMatching DOID:9439 chronic cholangitis oboInOwl:hasDbXref NCI:C35335 semapv:UnspecifiedMatching -DOID:9439 chronic cholangitis oboInOwl:hasDbXref UMLS_CUI:C0267918 semapv:UnspecifiedMatching +DOID:9439 chronic cholangitis oboInOwl:hasDbXref UMLS:C0267918 semapv:UnspecifiedMatching DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref NCI:C40215 semapv:UnspecifiedMatching -DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref UMLS_CUI:C1516427 semapv:UnspecifiedMatching +DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref UMLS:C1516427 semapv:UnspecifiedMatching DOID:9445 cervix squamous papilloma oboInOwl:hasDbXref NCI:C6342 semapv:UnspecifiedMatching -DOID:9445 cervix squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1336900 semapv:UnspecifiedMatching +DOID:9445 cervix squamous papilloma oboInOwl:hasDbXref UMLS:C1336900 semapv:UnspecifiedMatching DOID:9446 cholangitis oboInOwl:hasDbXref ICD10CM:K83.0 semapv:UnspecifiedMatching DOID:9446 cholangitis oboInOwl:hasDbXref ICD9CM:576.1 semapv:UnspecifiedMatching DOID:9446 cholangitis oboInOwl:hasDbXref MESH:D002761 semapv:UnspecifiedMatching DOID:9446 cholangitis oboInOwl:hasDbXref NCI:C26718 semapv:UnspecifiedMatching -DOID:9446 cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008311 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref ICD10CM:K70.0 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref ICD9CM:571.0 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref MESH:D005234 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref MESH:D005235 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref OMIM:228100 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref UMLS_CUI:C0015695 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref UMLS_CUI:C0015696 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease skos:exactMatch OMIM:228100 semapv:UnspecifiedMatching +DOID:9446 cholangitis oboInOwl:hasDbXref UMLS:C0008311 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref ICD10CM:K70.0 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref ICD9CM:571.0 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref MESH:D005234 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref MESH:D005235 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref OMIM:228100 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref UMLS:C0015695 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease oboInOwl:hasDbXref UMLS:C0015696 semapv:UnspecifiedMatching +DOID:9452 steatotic liver disease skos:exactMatch OMIM:228100 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD10CM:E75.6 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.7 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.8 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref MESH:D008064 semapv:UnspecifiedMatching -DOID:9455 lipid storage disease oboInOwl:hasDbXref UMLS_CUI:C0023794 semapv:UnspecifiedMatching -DOID:9455 lipid storage disease oboInOwl:hasDbXref UMLS_CUI:C0029591 semapv:UnspecifiedMatching +DOID:9455 lipid storage disease oboInOwl:hasDbXref UMLS:C0023794 semapv:UnspecifiedMatching +DOID:9455 lipid storage disease oboInOwl:hasDbXref UMLS:C0029591 semapv:UnspecifiedMatching DOID:9459 isthmus cancer oboInOwl:hasDbXref ICD9CM:182.1 semapv:UnspecifiedMatching -DOID:9459 isthmus cancer oboInOwl:hasDbXref UMLS_CUI:C0153575 semapv:UnspecifiedMatching +DOID:9459 isthmus cancer oboInOwl:hasDbXref UMLS:C0153575 semapv:UnspecifiedMatching DOID:946 dientamoebiasis oboInOwl:hasDbXref MESH:D004030 semapv:UnspecifiedMatching -DOID:946 dientamoebiasis oboInOwl:hasDbXref UMLS_CUI:C0012147 semapv:UnspecifiedMatching +DOID:946 dientamoebiasis oboInOwl:hasDbXref UMLS:C0012147 semapv:UnspecifiedMatching DOID:9460 uterine corpus cancer oboInOwl:hasDbXref ICD10CM:C54 semapv:UnspecifiedMatching DOID:9460 uterine corpus cancer oboInOwl:hasDbXref ICD9CM:182 semapv:UnspecifiedMatching DOID:9460 uterine corpus cancer oboInOwl:hasDbXref NCI:C3556 semapv:UnspecifiedMatching -DOID:9460 uterine corpus cancer oboInOwl:hasDbXref UMLS_CUI:C0153574 semapv:UnspecifiedMatching +DOID:9460 uterine corpus cancer oboInOwl:hasDbXref UMLS:C0153574 semapv:UnspecifiedMatching DOID:9461 exposure keratitis oboInOwl:hasDbXref ICD10CM:H16.21 semapv:UnspecifiedMatching DOID:9461 exposure keratitis oboInOwl:hasDbXref ICD9CM:370.34 semapv:UnspecifiedMatching -DOID:9461 exposure keratitis oboInOwl:hasDbXref UMLS_CUI:C0339295 semapv:UnspecifiedMatching +DOID:9461 exposure keratitis oboInOwl:hasDbXref UMLS:C0339295 semapv:UnspecifiedMatching DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref ICD10CM:H60.4 semapv:UnspecifiedMatching DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref ICD9CM:380.21 semapv:UnspecifiedMatching -DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref UMLS_CUI:C0155398 semapv:UnspecifiedMatching +DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref UMLS:C0155398 semapv:UnspecifiedMatching DOID:9463 otitis externa oboInOwl:hasDbXref ICD9CM:380.1 semapv:UnspecifiedMatching DOID:9463 otitis externa oboInOwl:hasDbXref NCI:C3299 semapv:UnspecifiedMatching -DOID:9463 otitis externa oboInOwl:hasDbXref UMLS_CUI:C0021355 semapv:UnspecifiedMatching +DOID:9463 otitis externa oboInOwl:hasDbXref UMLS:C0021355 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref GARD:7160 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MEDDRA:10063431 semapv:UnspecifiedMatching @@ -37042,119 +37356,119 @@ DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:Unspecifi DOID:9467 nail-patella syndrome oboInOwl:hasDbXref NCI:C75120 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref OMIM:161200 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ORDO:2614 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref UMLS_CUI:C0027341 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref UMLS:C0027341 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome skos:exactMatch OMIM:161200 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref GARD:5881 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD10CM:G00 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD9CM:320 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref MESH:D016920 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref NCI:C118297 semapv:UnspecifiedMatching -DOID:9470 bacterial meningitis oboInOwl:hasDbXref UMLS_CUI:C0085437 semapv:UnspecifiedMatching +DOID:9470 bacterial meningitis oboInOwl:hasDbXref UMLS:C0085437 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref ICD10CM:G03 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref ICD9CM:322.9 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref MESH:D008581 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref NCI:C26828 semapv:UnspecifiedMatching -DOID:9471 meningitis oboInOwl:hasDbXref UMLS_CUI:C0025289 semapv:UnspecifiedMatching +DOID:9471 meningitis oboInOwl:hasDbXref UMLS:C0025289 semapv:UnspecifiedMatching DOID:9473 mononeuritis of lower limb oboInOwl:hasDbXref ICD9CM:355.8 semapv:UnspecifiedMatching -DOID:9473 mononeuritis of lower limb oboInOwl:hasDbXref UMLS_CUI:C0154747 semapv:UnspecifiedMatching +DOID:9473 mononeuritis of lower limb oboInOwl:hasDbXref UMLS:C0154747 semapv:UnspecifiedMatching DOID:9476 Sheehan syndrome oboInOwl:hasDbXref GARD:7630 semapv:UnspecifiedMatching DOID:9476 Sheehan syndrome oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:9476 Sheehan syndrome oboInOwl:hasDbXref MESH:D007018 semapv:UnspecifiedMatching DOID:9476 Sheehan syndrome oboInOwl:hasDbXref NCI:C35300 semapv:UnspecifiedMatching -DOID:9476 Sheehan syndrome oboInOwl:hasDbXref UMLS_CUI:C0242342 semapv:UnspecifiedMatching +DOID:9476 Sheehan syndrome oboInOwl:hasDbXref UMLS:C0242342 semapv:UnspecifiedMatching DOID:9477 pulmonary embolism oboInOwl:hasDbXref ICD10CM:I26 semapv:UnspecifiedMatching DOID:9477 pulmonary embolism oboInOwl:hasDbXref MESH:D011655 semapv:UnspecifiedMatching DOID:9477 pulmonary embolism oboInOwl:hasDbXref NCI:C50713 semapv:UnspecifiedMatching -DOID:9477 pulmonary embolism oboInOwl:hasDbXref UMLS_CUI:C0034065 semapv:UnspecifiedMatching +DOID:9477 pulmonary embolism oboInOwl:hasDbXref UMLS:C0034065 semapv:UnspecifiedMatching DOID:9478 postpartum depression oboInOwl:hasDbXref ICD10CM:F53.0 semapv:UnspecifiedMatching DOID:9478 postpartum depression oboInOwl:hasDbXref MESH:D019052 semapv:UnspecifiedMatching DOID:9478 postpartum depression oboInOwl:hasDbXref NCI:C92852 semapv:UnspecifiedMatching -DOID:9478 postpartum depression oboInOwl:hasDbXref UMLS_CUI:C0221074 semapv:UnspecifiedMatching +DOID:9478 postpartum depression oboInOwl:hasDbXref UMLS:C0221074 semapv:UnspecifiedMatching DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref ICD10CM:H01.01 semapv:UnspecifiedMatching DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref ICD9CM:373.01 semapv:UnspecifiedMatching -DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155173 semapv:UnspecifiedMatching +DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref UMLS:C0155173 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD10CM:Q43.0 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD9CM:751.0 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref MESH:D008467 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref NCI:C12264 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref OMIM:155140 semapv:UnspecifiedMatching -DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref UMLS_CUI:C0025037 semapv:UnspecifiedMatching +DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref UMLS:C0025037 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum skos:exactMatch OMIM:155140 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.02 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.02 semapv:UnspecifiedMatching -DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0155224 semapv:UnspecifiedMatching +DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref UMLS:C0155224 semapv:UnspecifiedMatching DOID:9496 unilateral hypoactive labyrinth oboInOwl:hasDbXref ICD9CM:386.53 semapv:UnspecifiedMatching -DOID:9496 unilateral hypoactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155517 semapv:UnspecifiedMatching +DOID:9496 unilateral hypoactive labyrinth oboInOwl:hasDbXref UMLS:C0155517 semapv:UnspecifiedMatching DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref ICD9CM:518.3 semapv:UnspecifiedMatching DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref MESH:D011657 semapv:UnspecifiedMatching -DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref UMLS_CUI:C0034068 semapv:UnspecifiedMatching -DOID:9499 disseminated eosinophilic collagen disease oboInOwl:hasDbXref UMLS_CUI:C0263662 semapv:UnspecifiedMatching +DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref UMLS:C0034068 semapv:UnspecifiedMatching +DOID:9499 disseminated eosinophilic collagen disease oboInOwl:hasDbXref UMLS:C0263662 semapv:UnspecifiedMatching DOID:950 dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.0 semapv:UnspecifiedMatching DOID:950 dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.0 semapv:UnspecifiedMatching DOID:950 dacryoadenitis oboInOwl:hasDbXref MESH:D003607 semapv:UnspecifiedMatching DOID:950 dacryoadenitis oboInOwl:hasDbXref NCI:C26971 semapv:UnspecifiedMatching -DOID:950 dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0155223 semapv:UnspecifiedMatching +DOID:950 dacryoadenitis oboInOwl:hasDbXref UMLS:C0155223 semapv:UnspecifiedMatching DOID:9500 leukocyte disease oboInOwl:hasDbXref ICD10CM:D72.9 semapv:UnspecifiedMatching DOID:9500 leukocyte disease oboInOwl:hasDbXref ICD9CM:288 semapv:UnspecifiedMatching DOID:9500 leukocyte disease oboInOwl:hasDbXref MESH:D007960 semapv:UnspecifiedMatching -DOID:9500 leukocyte disease oboInOwl:hasDbXref UMLS_CUI:C0023510 semapv:UnspecifiedMatching +DOID:9500 leukocyte disease oboInOwl:hasDbXref UMLS:C0023510 semapv:UnspecifiedMatching DOID:9502 chronic eosinophilic pneumonia oboInOwl:hasDbXref GARD:1130 semapv:UnspecifiedMatching DOID:9502 chronic eosinophilic pneumonia oboInOwl:hasDbXref GARD:2134 semapv:UnspecifiedMatching DOID:9502 chronic eosinophilic pneumonia oboInOwl:hasDbXref ICD10CM:J82.81 semapv:UnspecifiedMatching DOID:9502 chronic eosinophilic pneumonia oboInOwl:hasDbXref NCI:C34471 semapv:UnspecifiedMatching -DOID:9502 chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS_CUI:C0008680 semapv:UnspecifiedMatching +DOID:9502 chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C0008680 semapv:UnspecifiedMatching DOID:9503 Loeffler syndrome oboInOwl:hasDbXref ICD10CM:J82.89 semapv:UnspecifiedMatching DOID:9503 Loeffler syndrome oboInOwl:hasDbXref MESH:D011657 semapv:UnspecifiedMatching DOID:9503 Loeffler syndrome oboInOwl:hasDbXref NCI:C35301 semapv:UnspecifiedMatching -DOID:9503 Loeffler syndrome oboInOwl:hasDbXref UMLS_CUI:C0242459 semapv:UnspecifiedMatching +DOID:9503 Loeffler syndrome oboInOwl:hasDbXref UMLS:C0242459 semapv:UnspecifiedMatching DOID:9504 benign mammary dysplasia oboInOwl:hasDbXref ICD9CM:610.8 semapv:UnspecifiedMatching -DOID:9504 benign mammary dysplasia oboInOwl:hasDbXref UMLS_CUI:C0156319 semapv:UnspecifiedMatching +DOID:9504 benign mammary dysplasia oboInOwl:hasDbXref UMLS:C0156319 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD10CM:F12 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD10CM:F12.1 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD9CM:305.2 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref MESH:D002189 semapv:UnspecifiedMatching -DOID:9505 cannabis abuse oboInOwl:hasDbXref UMLS_CUI:C0006868 semapv:UnspecifiedMatching -DOID:9505 cannabis abuse oboInOwl:hasDbXref UMLS_CUI:C0024809 semapv:UnspecifiedMatching +DOID:9505 cannabis abuse oboInOwl:hasDbXref UMLS:C0006868 semapv:UnspecifiedMatching +DOID:9505 cannabis abuse oboInOwl:hasDbXref UMLS:C0024809 semapv:UnspecifiedMatching DOID:9506 acute ethmoiditis oboInOwl:hasDbXref ICD10CM:J01.2 semapv:UnspecifiedMatching DOID:9506 acute ethmoiditis oboInOwl:hasDbXref ICD9CM:461.2 semapv:UnspecifiedMatching -DOID:9506 acute ethmoiditis oboInOwl:hasDbXref UMLS_CUI:C0155806 semapv:UnspecifiedMatching +DOID:9506 acute ethmoiditis oboInOwl:hasDbXref UMLS:C0155806 semapv:UnspecifiedMatching DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref ICD10CM:J32.2 semapv:UnspecifiedMatching DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref MESH:D015521 semapv:UnspecifiedMatching DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref NCI:C34597 semapv:UnspecifiedMatching -DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref UMLS_CUI:C0015029 semapv:UnspecifiedMatching +DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref UMLS:C0015029 semapv:UnspecifiedMatching DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.42 semapv:UnspecifiedMatching DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref ICD9CM:372.11 semapv:UnspecifiedMatching -DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155146 semapv:UnspecifiedMatching +DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref UMLS:C0155146 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref GARD:9373 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICD10CM:C90.1 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICD9CM:203.1 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICDO:9733/3 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref MESH:D007952 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref NCI:C3180 semapv:UnspecifiedMatching -DOID:9513 plasma cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023484 semapv:UnspecifiedMatching +DOID:9513 plasma cell leukemia oboInOwl:hasDbXref UMLS:C0023484 semapv:UnspecifiedMatching DOID:952 acute dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.01 semapv:UnspecifiedMatching DOID:952 acute dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.01 semapv:UnspecifiedMatching -DOID:952 acute dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0149505 semapv:UnspecifiedMatching +DOID:952 acute dacryoadenitis oboInOwl:hasDbXref UMLS:C0149505 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref GARD:6859 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref ICD10CM:E34.321 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref MESH:D046150 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref NCI:C130994 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref OMIM:262500 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref ORDO:633 semapv:UnspecifiedMatching -DOID:9521 Laron syndrome oboInOwl:hasDbXref UMLS_CUI:C0271568 semapv:UnspecifiedMatching +DOID:9521 Laron syndrome oboInOwl:hasDbXref UMLS:C0271568 semapv:UnspecifiedMatching DOID:9521 Laron syndrome skos:exactMatch OMIM:262500 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref ICD10CM:A53.0 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref ICD9CM:097.1 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref MESH:D013592 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref NCI:C35056 semapv:UnspecifiedMatching -DOID:9531 latent syphilis oboInOwl:hasDbXref UMLS_CUI:C0039133 semapv:UnspecifiedMatching +DOID:9531 latent syphilis oboInOwl:hasDbXref UMLS:C0039133 semapv:UnspecifiedMatching DOID:9534 tuberculous pneumothorax oboInOwl:hasDbXref ICD10CM:A15.0 semapv:UnspecifiedMatching DOID:9534 tuberculous pneumothorax oboInOwl:hasDbXref ICD9CM:011.7 semapv:UnspecifiedMatching -DOID:9534 tuberculous pneumothorax oboInOwl:hasDbXref UMLS_CUI:C0152600 semapv:UnspecifiedMatching +DOID:9534 tuberculous pneumothorax oboInOwl:hasDbXref UMLS:C0152600 semapv:UnspecifiedMatching DOID:9537 Lassa fever oboInOwl:hasDbXref ICD10CM:A96.2 semapv:UnspecifiedMatching DOID:9537 Lassa fever oboInOwl:hasDbXref MESH:D007835 semapv:UnspecifiedMatching DOID:9537 Lassa fever oboInOwl:hasDbXref NCI:C128418 semapv:UnspecifiedMatching -DOID:9537 Lassa fever oboInOwl:hasDbXref UMLS_CUI:C0023092 semapv:UnspecifiedMatching +DOID:9537 Lassa fever oboInOwl:hasDbXref UMLS:C0023092 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref EFO:0001378 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref GARD:7108 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref ICD10CM:C90.0 semapv:UnspecifiedMatching @@ -37163,35 +37477,35 @@ DOID:9538 multiple myeloma oboInOwl:hasDbXref MESH:D009101 semapv:UnspecifiedMat DOID:9538 multiple myeloma oboInOwl:hasDbXref NCI:C3242 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref ORDO:29073 semapv:UnspecifiedMatching -DOID:9538 multiple myeloma oboInOwl:hasDbXref UMLS_CUI:C0026764 semapv:UnspecifiedMatching +DOID:9538 multiple myeloma oboInOwl:hasDbXref UMLS:C0026764 semapv:UnspecifiedMatching DOID:9538 multiple myeloma skos:exactMatch OMIM:254500 semapv:UnspecifiedMatching DOID:9540 vascular skin disease oboInOwl:hasDbXref ICD9CM:709.1 semapv:UnspecifiedMatching DOID:9540 vascular skin disease oboInOwl:hasDbXref MESH:D017445 semapv:UnspecifiedMatching DOID:9540 vascular skin disease oboInOwl:hasDbXref NCI:C35254 semapv:UnspecifiedMatching -DOID:9540 vascular skin disease oboInOwl:hasDbXref UMLS_CUI:C0162819 semapv:UnspecifiedMatching -DOID:9541 osteosclerotic myeloma oboInOwl:hasDbXref UMLS_CUI:C1510415 semapv:UnspecifiedMatching +DOID:9540 vascular skin disease oboInOwl:hasDbXref UMLS:C0162819 semapv:UnspecifiedMatching +DOID:9541 osteosclerotic myeloma oboInOwl:hasDbXref UMLS:C1510415 semapv:UnspecifiedMatching DOID:9544 refractory plasma cell neoplasm oboInOwl:hasDbXref NCI:C7813 semapv:UnspecifiedMatching -DOID:9544 refractory plasma cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0278620 semapv:UnspecifiedMatching -DOID:9547 non-secretory myeloma oboInOwl:hasDbXref UMLS_CUI:C0456845 semapv:UnspecifiedMatching -DOID:955 obsolete benign neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C0854906 semapv:UnspecifiedMatching +DOID:9544 refractory plasma cell neoplasm oboInOwl:hasDbXref UMLS:C0278620 semapv:UnspecifiedMatching +DOID:9547 non-secretory myeloma oboInOwl:hasDbXref UMLS:C0456845 semapv:UnspecifiedMatching +DOID:955 obsolete benign neurilemmoma oboInOwl:hasDbXref UMLS:C0854906 semapv:UnspecifiedMatching DOID:9550 indolent plasma cell myeloma oboInOwl:hasDbXref NCI:C7150 semapv:UnspecifiedMatching -DOID:9550 indolent plasma cell myeloma oboInOwl:hasDbXref UMLS_CUI:C2049069 semapv:UnspecifiedMatching +DOID:9550 indolent plasma cell myeloma oboInOwl:hasDbXref UMLS:C2049069 semapv:UnspecifiedMatching DOID:9553 adrenal gland disease oboInOwl:hasDbXref ICD10CM:E27.9 semapv:UnspecifiedMatching DOID:9553 adrenal gland disease oboInOwl:hasDbXref ICD9CM:255.9 semapv:UnspecifiedMatching DOID:9553 adrenal gland disease oboInOwl:hasDbXref MESH:D000307 semapv:UnspecifiedMatching DOID:9553 adrenal gland disease oboInOwl:hasDbXref NCI:C26690 semapv:UnspecifiedMatching -DOID:9553 adrenal gland disease oboInOwl:hasDbXref UMLS_CUI:C0001621 semapv:UnspecifiedMatching +DOID:9553 adrenal gland disease oboInOwl:hasDbXref UMLS:C0001621 semapv:UnspecifiedMatching DOID:956 peripheral nerve schwannoma oboInOwl:hasDbXref NCI:C41430 semapv:UnspecifiedMatching -DOID:956 peripheral nerve schwannoma oboInOwl:hasDbXref UMLS_CUI:C1519001 semapv:UnspecifiedMatching +DOID:956 peripheral nerve schwannoma oboInOwl:hasDbXref UMLS:C1519001 semapv:UnspecifiedMatching DOID:9561 nasopharyngeal disease oboInOwl:hasDbXref MESH:D009302 semapv:UnspecifiedMatching DOID:9561 nasopharyngeal disease oboInOwl:hasDbXref NCI:C35723 semapv:UnspecifiedMatching -DOID:9561 nasopharyngeal disease oboInOwl:hasDbXref UMLS_CUI:C0027438 semapv:UnspecifiedMatching +DOID:9561 nasopharyngeal disease oboInOwl:hasDbXref UMLS:C0027438 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref GARD:4484 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref MESH:D002925 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref NCI:C84638 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref OMIMPS:244400 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref ORDO:244 semapv:UnspecifiedMatching -DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref UMLS_CUI:C0008780 semapv:UnspecifiedMatching +DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref UMLS:C0008780 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia skos:exactMatch OMIMPS:244400 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref ICD10CM:J47 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref ICD9CM:494 semapv:UnspecifiedMatching @@ -37202,83 +37516,83 @@ DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatchi DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIMPS:211400 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref ORDO:60033 semapv:UnspecifiedMatching -DOID:9563 bronchiectasis oboInOwl:hasDbXref UMLS_CUI:C0006267 semapv:UnspecifiedMatching +DOID:9563 bronchiectasis oboInOwl:hasDbXref UMLS:C0006267 semapv:UnspecifiedMatching DOID:9565 dextrocardia oboInOwl:hasDbXref GARD:1827 semapv:UnspecifiedMatching DOID:9565 dextrocardia oboInOwl:hasDbXref ICD10CM:Q24.0 semapv:UnspecifiedMatching DOID:9565 dextrocardia oboInOwl:hasDbXref MESH:D003914 semapv:UnspecifiedMatching DOID:9565 dextrocardia oboInOwl:hasDbXref NCI:C84669 semapv:UnspecifiedMatching -DOID:9565 dextrocardia oboInOwl:hasDbXref UMLS_CUI:C0011813 semapv:UnspecifiedMatching +DOID:9565 dextrocardia oboInOwl:hasDbXref UMLS:C0011813 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref ICD10CM:Q30.0 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref ICD9CM:748.0 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref MESH:C562435 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref MESH:D002754 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref OMIM:608911 semapv:UnspecifiedMatching -DOID:9574 choanal atresia oboInOwl:hasDbXref UMLS_CUI:C0008297 semapv:UnspecifiedMatching -DOID:9574 choanal atresia oboInOwl:hasDbXref UMLS_CUI:C0220723 semapv:UnspecifiedMatching +DOID:9574 choanal atresia oboInOwl:hasDbXref UMLS:C0008297 semapv:UnspecifiedMatching +DOID:9574 choanal atresia oboInOwl:hasDbXref UMLS:C0220723 semapv:UnspecifiedMatching DOID:9574 choanal atresia skos:exactMatch OMIM:608911 semapv:UnspecifiedMatching DOID:9577 neonatal candidiasis oboInOwl:hasDbXref ICD10CM:P37.5 semapv:UnspecifiedMatching DOID:9577 neonatal candidiasis oboInOwl:hasDbXref ICD9CM:771.7 semapv:UnspecifiedMatching DOID:9577 neonatal candidiasis oboInOwl:hasDbXref NCI:C116810 semapv:UnspecifiedMatching -DOID:9577 neonatal candidiasis oboInOwl:hasDbXref UMLS_CUI:C0276682 semapv:UnspecifiedMatching +DOID:9577 neonatal candidiasis oboInOwl:hasDbXref UMLS:C0276682 semapv:UnspecifiedMatching DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref GARD:6355 semapv:UnspecifiedMatching DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref ICD10CM:A92.2 semapv:UnspecifiedMatching DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref ICD9CM:066.2 semapv:UnspecifiedMatching DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref MESH:D004685 semapv:UnspecifiedMatching DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref NCI:C35121 semapv:UnspecifiedMatching -DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014078 semapv:UnspecifiedMatching +DOID:9584 Venezuelan equine encephalitis oboInOwl:hasDbXref UMLS:C0014078 semapv:UnspecifiedMatching DOID:9588 encephalitis oboInOwl:hasDbXref MESH:D004660 semapv:UnspecifiedMatching DOID:9588 encephalitis oboInOwl:hasDbXref NCI:C26760 semapv:UnspecifiedMatching -DOID:9588 encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014038 semapv:UnspecifiedMatching +DOID:9588 encephalitis oboInOwl:hasDbXref UMLS:C0014038 semapv:UnspecifiedMatching DOID:9589 urethral calculus oboInOwl:hasDbXref ICD10CM:N21.1 semapv:UnspecifiedMatching DOID:9589 urethral calculus oboInOwl:hasDbXref ICD9CM:594.2 semapv:UnspecifiedMatching DOID:9589 urethral calculus oboInOwl:hasDbXref NCI:C26995 semapv:UnspecifiedMatching -DOID:9589 urethral calculus oboInOwl:hasDbXref UMLS_CUI:C0162301 semapv:UnspecifiedMatching +DOID:9589 urethral calculus oboInOwl:hasDbXref UMLS:C0162301 semapv:UnspecifiedMatching DOID:959 esophagus squamous cell papilloma oboInOwl:hasDbXref NCI:C5344 semapv:UnspecifiedMatching -DOID:959 esophagus squamous cell papilloma oboInOwl:hasDbXref UMLS_CUI:C1333467 semapv:UnspecifiedMatching +DOID:959 esophagus squamous cell papilloma oboInOwl:hasDbXref UMLS:C1333467 semapv:UnspecifiedMatching DOID:9590 lower urinary tract calculus oboInOwl:hasDbXref ICD10CM:N21 semapv:UnspecifiedMatching DOID:9590 lower urinary tract calculus oboInOwl:hasDbXref ICD9CM:594 semapv:UnspecifiedMatching -DOID:9590 lower urinary tract calculus oboInOwl:hasDbXref UMLS_CUI:C0156264 semapv:UnspecifiedMatching +DOID:9590 lower urinary tract calculus oboInOwl:hasDbXref UMLS:C0156264 semapv:UnspecifiedMatching DOID:9597 Krukenberg carcinoma oboInOwl:hasDbXref GARD:8627 semapv:UnspecifiedMatching DOID:9597 Krukenberg carcinoma oboInOwl:hasDbXref MESH:D007725 semapv:UnspecifiedMatching DOID:9597 Krukenberg carcinoma oboInOwl:hasDbXref NCI:C3153 semapv:UnspecifiedMatching -DOID:9597 Krukenberg carcinoma oboInOwl:hasDbXref UMLS_CUI:C0022790 semapv:UnspecifiedMatching +DOID:9597 Krukenberg carcinoma oboInOwl:hasDbXref UMLS:C0022790 semapv:UnspecifiedMatching DOID:9598 fasciitis oboInOwl:hasDbXref ICD10CM:M72.9 semapv:UnspecifiedMatching DOID:9598 fasciitis oboInOwl:hasDbXref ICD9CM:729.4 semapv:UnspecifiedMatching DOID:9598 fasciitis oboInOwl:hasDbXref MESH:D005208 semapv:UnspecifiedMatching DOID:9598 fasciitis oboInOwl:hasDbXref NCI:C50559 semapv:UnspecifiedMatching -DOID:9598 fasciitis oboInOwl:hasDbXref UMLS_CUI:C0015645 semapv:UnspecifiedMatching +DOID:9598 fasciitis oboInOwl:hasDbXref UMLS:C0015645 semapv:UnspecifiedMatching DOID:9599 proliferative fasciitis oboInOwl:hasDbXref NCI:C4728 semapv:UnspecifiedMatching -DOID:9599 proliferative fasciitis oboInOwl:hasDbXref UMLS_CUI:C0432528 semapv:UnspecifiedMatching +DOID:9599 proliferative fasciitis oboInOwl:hasDbXref UMLS:C0432528 semapv:UnspecifiedMatching DOID:96 staphyloenterotoxemia oboInOwl:hasDbXref ICD10CM:A05.0 semapv:UnspecifiedMatching DOID:96 staphyloenterotoxemia oboInOwl:hasDbXref ICD9CM:005.0 semapv:UnspecifiedMatching DOID:96 staphyloenterotoxemia oboInOwl:hasDbXref MESH:D013202 semapv:UnspecifiedMatching DOID:96 staphyloenterotoxemia oboInOwl:hasDbXref NCI:C35037 semapv:UnspecifiedMatching -DOID:96 staphyloenterotoxemia oboInOwl:hasDbXref UMLS_CUI:C0038159 semapv:UnspecifiedMatching +DOID:96 staphyloenterotoxemia oboInOwl:hasDbXref UMLS:C0038159 semapv:UnspecifiedMatching DOID:960 esophagus leiomyoma oboInOwl:hasDbXref NCI:C3866 semapv:UnspecifiedMatching -DOID:960 esophagus leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0238114 semapv:UnspecifiedMatching +DOID:960 esophagus leiomyoma oboInOwl:hasDbXref UMLS:C0238114 semapv:UnspecifiedMatching DOID:9600 plantar fasciitis oboInOwl:hasDbXref ICD10CM:M72.2 semapv:UnspecifiedMatching DOID:9600 plantar fasciitis oboInOwl:hasDbXref MESH:D036981 semapv:UnspecifiedMatching -DOID:9600 plantar fasciitis oboInOwl:hasDbXref UMLS_CUI:C0149756 semapv:UnspecifiedMatching +DOID:9600 plantar fasciitis oboInOwl:hasDbXref UMLS:C0149756 semapv:UnspecifiedMatching DOID:9601 ischemic fasciitis oboInOwl:hasDbXref NCI:C6483 semapv:UnspecifiedMatching -DOID:9601 ischemic fasciitis oboInOwl:hasDbXref UMLS_CUI:C1304514 semapv:UnspecifiedMatching +DOID:9601 ischemic fasciitis oboInOwl:hasDbXref UMLS:C1304514 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref GARD:6454 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref ICD10CM:M72.6 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref ICD9CM:728.86 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref MESH:D019115 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref NCI:C84916 semapv:UnspecifiedMatching -DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref UMLS_CUI:C0238124 semapv:UnspecifiedMatching +DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref UMLS:C0238124 semapv:UnspecifiedMatching DOID:9603 intravascular fasciitis oboInOwl:hasDbXref NCI:C4729 semapv:UnspecifiedMatching -DOID:9603 intravascular fasciitis oboInOwl:hasDbXref UMLS_CUI:C0432529 semapv:UnspecifiedMatching +DOID:9603 intravascular fasciitis oboInOwl:hasDbXref UMLS:C0432529 semapv:UnspecifiedMatching DOID:961 neurofibroma of the esophagus oboInOwl:hasDbXref NCI:C5704 semapv:UnspecifiedMatching -DOID:961 neurofibroma of the esophagus oboInOwl:hasDbXref UMLS_CUI:C1333463 semapv:UnspecifiedMatching +DOID:961 neurofibroma of the esophagus oboInOwl:hasDbXref UMLS:C1333463 semapv:UnspecifiedMatching DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref ICD10CM:R80.2 semapv:UnspecifiedMatching DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref ICD9CM:593.6 semapv:UnspecifiedMatching -DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref UMLS_CUI:C0232867 semapv:UnspecifiedMatching +DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref UMLS:C0232867 semapv:UnspecifiedMatching DOID:962 neurofibroma oboInOwl:hasDbXref GARD:7191 semapv:UnspecifiedMatching DOID:962 neurofibroma oboInOwl:hasDbXref ICDO:9540/0 semapv:UnspecifiedMatching DOID:962 neurofibroma oboInOwl:hasDbXref MESH:D009455 semapv:UnspecifiedMatching DOID:962 neurofibroma oboInOwl:hasDbXref NCI:C3272 semapv:UnspecifiedMatching -DOID:962 neurofibroma oboInOwl:hasDbXref UMLS_CUI:C0027830 semapv:UnspecifiedMatching +DOID:962 neurofibroma oboInOwl:hasDbXref UMLS:C0027830 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD10CM:N13.7 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD9CM:593.7 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref MESH:D014718 semapv:UnspecifiedMatching @@ -37294,179 +37608,179 @@ DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614674 semapv:Unspecifie DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:615390 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:615963 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ORDO:289365 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref UMLS_CUI:C0042580 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref UMLS:C0042580 semapv:UnspecifiedMatching DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref ICD10CM:N28.1 semapv:UnspecifiedMatching DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref ICD9CM:593.2 semapv:UnspecifiedMatching -DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref UMLS_CUI:C0268799 semapv:UnspecifiedMatching +DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref UMLS:C0268799 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref ICD10CM:N28.81 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref ICD9CM:593.1 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref NCI:C122991 semapv:UnspecifiedMatching -DOID:9622 kidney hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0156259 semapv:UnspecifiedMatching +DOID:9622 kidney hypertrophy oboInOwl:hasDbXref UMLS:C0156259 semapv:UnspecifiedMatching DOID:963 episodic ataxia oboInOwl:hasDbXref GARD:9851 semapv:UnspecifiedMatching DOID:963 episodic ataxia oboInOwl:hasDbXref MESH:C580065 semapv:UnspecifiedMatching DOID:963 episodic ataxia oboInOwl:hasDbXref ORDO:211062 semapv:UnspecifiedMatching -DOID:963 episodic ataxia oboInOwl:hasDbXref UMLS_CUI:C1720189 semapv:UnspecifiedMatching +DOID:963 episodic ataxia oboInOwl:hasDbXref UMLS:C1720189 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref GARD:9148 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref MESH:D010381 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref NCI:C85002 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref OMIM:169400 semapv:UnspecifiedMatching -DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref UMLS_CUI:C0030779 semapv:UnspecifiedMatching +DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref UMLS:C0030779 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly skos:exactMatch OMIM:169400 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref MESH:D013280 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref NCI:C26887 semapv:UnspecifiedMatching -DOID:9637 stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038362 semapv:UnspecifiedMatching +DOID:9637 stomatitis oboInOwl:hasDbXref UMLS:C0038362 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref ICD10CM:A07.8 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref ICD9CM:136.5 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref MESH:D012523 semapv:UnspecifiedMatching -DOID:9640 sarcocystosis oboInOwl:hasDbXref UMLS_CUI:C0036231 semapv:UnspecifiedMatching +DOID:9640 sarcocystosis oboInOwl:hasDbXref UMLS:C0036231 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref GARD:5878 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref ICD10CM:B60.0 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref ICD9CM:088.82 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref MESH:D001404 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref NCI:C84581 semapv:UnspecifiedMatching -DOID:9643 babesiosis oboInOwl:hasDbXref UMLS_CUI:C0004576 semapv:UnspecifiedMatching +DOID:9643 babesiosis oboInOwl:hasDbXref UMLS:C0004576 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD10CM:H55.01 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD9CM:379.51 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref MESH:D020417 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref OMIMPS:310700 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ORDO:651 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus oboInOwl:hasDbXref UMLS_CUI:C0700501 semapv:UnspecifiedMatching +DOID:9649 congenital nystagmus oboInOwl:hasDbXref UMLS:C0700501 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus skos:exactMatch OMIMPS:310700 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref ICD10CM:H55.0 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref ICD9CM:379.50 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref NCI:C3282 semapv:UnspecifiedMatching -DOID:9650 pathologic nystagmus oboInOwl:hasDbXref UMLS_CUI:C0028738 semapv:UnspecifiedMatching +DOID:9650 pathologic nystagmus oboInOwl:hasDbXref UMLS:C0028738 semapv:UnspecifiedMatching DOID:9651 systolic heart failure oboInOwl:hasDbXref ICD10CM:I50.20 semapv:UnspecifiedMatching DOID:9651 systolic heart failure oboInOwl:hasDbXref ICD9CM:428.2 semapv:UnspecifiedMatching DOID:9651 systolic heart failure oboInOwl:hasDbXref MESH:D054143 semapv:UnspecifiedMatching -DOID:9651 systolic heart failure oboInOwl:hasDbXref UMLS_CUI:C1135191 semapv:UnspecifiedMatching +DOID:9651 systolic heart failure oboInOwl:hasDbXref UMLS:C1135191 semapv:UnspecifiedMatching DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref ICD10CM:K13.21 semapv:UnspecifiedMatching DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref ICD9CM:528.6 semapv:UnspecifiedMatching -DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref UMLS_CUI:C1112530 semapv:UnspecifiedMatching +DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref UMLS:C1112530 semapv:UnspecifiedMatching DOID:9663 aphthous stomatitis oboInOwl:hasDbXref GARD:5834 semapv:UnspecifiedMatching DOID:9663 aphthous stomatitis oboInOwl:hasDbXref ICD9CM:528.2 semapv:UnspecifiedMatching DOID:9663 aphthous stomatitis oboInOwl:hasDbXref MESH:D013281 semapv:UnspecifiedMatching DOID:9663 aphthous stomatitis oboInOwl:hasDbXref NCI:C62546 semapv:UnspecifiedMatching -DOID:9663 aphthous stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038363 semapv:UnspecifiedMatching +DOID:9663 aphthous stomatitis oboInOwl:hasDbXref UMLS:C0038363 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref ICD10CM:O20.0 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref ICD9CM:640.0 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref MESH:D000033 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref NCI:C112857 semapv:UnspecifiedMatching -DOID:9667 placental abruption oboInOwl:hasDbXref UMLS_CUI:C0000821 semapv:UnspecifiedMatching +DOID:9667 placental abruption oboInOwl:hasDbXref UMLS:C0000821 semapv:UnspecifiedMatching DOID:9669 senile cataract oboInOwl:hasDbXref ICD10CM:H25 semapv:UnspecifiedMatching DOID:9669 senile cataract oboInOwl:hasDbXref ICD9CM:366.1 semapv:UnspecifiedMatching DOID:9669 senile cataract oboInOwl:hasDbXref NCI:C35012 semapv:UnspecifiedMatching -DOID:9669 senile cataract oboInOwl:hasDbXref UMLS_CUI:C0036646 semapv:UnspecifiedMatching +DOID:9669 senile cataract oboInOwl:hasDbXref UMLS:C0036646 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref GARD:4001 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref ICD10CM:A69.0 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref ICD9CM:528.1 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref MESH:D009625 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref NCI:C34852 semapv:UnspecifiedMatching -DOID:9672 noma oboInOwl:hasDbXref UMLS_CUI:C0028271 semapv:UnspecifiedMatching +DOID:9672 noma oboInOwl:hasDbXref UMLS:C0028271 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref MESH:D005892 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref NCI:C35039 semapv:UnspecifiedMatching -DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038367 semapv:UnspecifiedMatching +DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref UMLS:C0038367 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD10CM:J43.8 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD9CM:492.8 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref OMIM:130700 semapv:UnspecifiedMatching -DOID:9675 pulmonary emphysema oboInOwl:hasDbXref UMLS_CUI:C0029607 semapv:UnspecifiedMatching +DOID:9675 pulmonary emphysema oboInOwl:hasDbXref UMLS:C0029607 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema skos:exactMatch MESH:D011656 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema skos:exactMatch OMIM:130700 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref ICD10CM:N88.3 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref ICD9CM:622.5 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref MESH:D002581 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref NCI:C50607 semapv:UnspecifiedMatching -DOID:9681 cervical incompetence oboInOwl:hasDbXref UMLS_CUI:C0007871 semapv:UnspecifiedMatching +DOID:9681 cervical incompetence oboInOwl:hasDbXref UMLS:C0007871 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref GARD:7914 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref ICD10CM:A95 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref ICD9CM:060 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref MESH:D015004 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref NCI:C35547 semapv:UnspecifiedMatching -DOID:9682 yellow fever oboInOwl:hasDbXref UMLS_CUI:C0043395 semapv:UnspecifiedMatching +DOID:9682 yellow fever oboInOwl:hasDbXref UMLS:C0043395 semapv:UnspecifiedMatching DOID:9694 toxic myocarditis oboInOwl:hasDbXref ICD9CM:422.93 semapv:UnspecifiedMatching -DOID:9694 toxic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155691 semapv:UnspecifiedMatching +DOID:9694 toxic myocarditis oboInOwl:hasDbXref UMLS:C0155691 semapv:UnspecifiedMatching DOID:9697 gonococcal keratitis oboInOwl:hasDbXref ICD10CM:A54.33 semapv:UnspecifiedMatching DOID:9697 gonococcal keratitis oboInOwl:hasDbXref ICD9CM:098.43 semapv:UnspecifiedMatching -DOID:9697 gonococcal keratitis oboInOwl:hasDbXref UMLS_CUI:C0153214 semapv:UnspecifiedMatching +DOID:9697 gonococcal keratitis oboInOwl:hasDbXref UMLS:C0153214 semapv:UnspecifiedMatching DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref ICD10CM:A54.39 semapv:UnspecifiedMatching DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref ICD9CM:098.42 semapv:UnspecifiedMatching -DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref UMLS_CUI:C0153213 semapv:UnspecifiedMatching +DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref UMLS:C0153213 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref GARD:2546 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref ICD10CM:P39.1 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref ICD9CM:771.6 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref NCI:C116815 semapv:UnspecifiedMatching -DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0027611 semapv:UnspecifiedMatching -DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0029076 semapv:UnspecifiedMatching +DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS:C0027611 semapv:UnspecifiedMatching +DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS:C0029076 semapv:UnspecifiedMatching DOID:970 tenosynovitis oboInOwl:hasDbXref MESH:D013717 semapv:UnspecifiedMatching -DOID:970 tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0039520 semapv:UnspecifiedMatching +DOID:970 tenosynovitis oboInOwl:hasDbXref UMLS:C0039520 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.0 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref MESH:D003234 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref NCI:C53656 semapv:UnspecifiedMatching -DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009768 semapv:UnspecifiedMatching +DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref UMLS:C0009768 semapv:UnspecifiedMatching DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.82 semapv:UnspecifiedMatching DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref ICD9CM:372.31 semapv:UnspecifiedMatching -DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155152 semapv:UnspecifiedMatching +DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref UMLS:C0155152 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref ICD10CM:M77.9 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref MESH:D052256 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref NCI:C97141 semapv:UnspecifiedMatching -DOID:971 tendinitis oboInOwl:hasDbXref UMLS_CUI:C0039503 semapv:UnspecifiedMatching +DOID:971 tendinitis oboInOwl:hasDbXref UMLS:C0039503 semapv:UnspecifiedMatching DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref ICD10CM:K82.0 semapv:UnspecifiedMatching DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref ICD9CM:575.2 semapv:UnspecifiedMatching DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref NCI:C78308 semapv:UnspecifiedMatching -DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref UMLS_CUI:C0156214 semapv:UnspecifiedMatching +DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref UMLS:C0156214 semapv:UnspecifiedMatching DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref ICD10CM:K82.1 semapv:UnspecifiedMatching DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref ICD9CM:575.3 semapv:UnspecifiedMatching -DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref UMLS_CUI:C0152445 semapv:UnspecifiedMatching +DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref UMLS:C0152445 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref MESH:D018630 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ORDO:329211 semapv:UnspecifiedMatching -DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref UMLS_CUI:C0242852 semapv:UnspecifiedMatching +DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref UMLS:C0242852 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy skos:exactMatch OMIM:193235 semapv:UnspecifiedMatching DOID:9720 vitreous disease oboInOwl:hasDbXref ICD10CM:H43.39 semapv:UnspecifiedMatching DOID:9720 vitreous disease oboInOwl:hasDbXref ICD9CM:379.24 semapv:UnspecifiedMatching -DOID:9720 vitreous disease oboInOwl:hasDbXref UMLS_CUI:C0029872 semapv:UnspecifiedMatching +DOID:9720 vitreous disease oboInOwl:hasDbXref UMLS:C0029872 semapv:UnspecifiedMatching DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref ICD10CM:H16.24 semapv:UnspecifiedMatching DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref ICD9CM:360.14 semapv:UnspecifiedMatching -DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref UMLS_CUI:C0154775 semapv:UnspecifiedMatching +DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref UMLS:C0154775 semapv:UnspecifiedMatching DOID:9723 vitreous abscess oboInOwl:hasDbXref ICD9CM:360.04 semapv:UnspecifiedMatching -DOID:9723 vitreous abscess oboInOwl:hasDbXref UMLS_CUI:C0042904 semapv:UnspecifiedMatching +DOID:9723 vitreous abscess oboInOwl:hasDbXref UMLS:C0042904 semapv:UnspecifiedMatching DOID:9724 purulent endophthalmitis oboInOwl:hasDbXref ICD10CM:H44.0 semapv:UnspecifiedMatching DOID:9724 purulent endophthalmitis oboInOwl:hasDbXref ICD9CM:360.0 semapv:UnspecifiedMatching -DOID:9724 purulent endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0259800 semapv:UnspecifiedMatching +DOID:9724 purulent endophthalmitis oboInOwl:hasDbXref UMLS:C0259800 semapv:UnspecifiedMatching DOID:9726 vitreous detachment oboInOwl:hasDbXref ICD10CM:H43.81 semapv:UnspecifiedMatching DOID:9726 vitreous detachment oboInOwl:hasDbXref MESH:D020255 semapv:UnspecifiedMatching DOID:9726 vitreous detachment oboInOwl:hasDbXref NCI:C50807 semapv:UnspecifiedMatching -DOID:9726 vitreous detachment oboInOwl:hasDbXref UMLS_CUI:C0042907 semapv:UnspecifiedMatching +DOID:9726 vitreous detachment oboInOwl:hasDbXref UMLS:C0042907 semapv:UnspecifiedMatching DOID:9733 renal tuberculosis oboInOwl:hasDbXref ICD9CM:016.0 semapv:UnspecifiedMatching DOID:9733 renal tuberculosis oboInOwl:hasDbXref MESH:D014398 semapv:UnspecifiedMatching DOID:9733 renal tuberculosis oboInOwl:hasDbXref NCI:C123020 semapv:UnspecifiedMatching -DOID:9733 renal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041328 semapv:UnspecifiedMatching +DOID:9733 renal tuberculosis oboInOwl:hasDbXref UMLS:C0041328 semapv:UnspecifiedMatching DOID:9735 acute allergic mucoid otitis media oboInOwl:hasDbXref ICD9CM:381.05 semapv:UnspecifiedMatching -DOID:9735 acute allergic mucoid otitis media oboInOwl:hasDbXref UMLS_CUI:C0155419 semapv:UnspecifiedMatching +DOID:9735 acute allergic mucoid otitis media oboInOwl:hasDbXref UMLS:C0155419 semapv:UnspecifiedMatching DOID:9736 blue drum syndrome oboInOwl:hasDbXref ICD9CM:381.02 semapv:UnspecifiedMatching -DOID:9736 blue drum syndrome oboInOwl:hasDbXref UMLS_CUI:C0395863 semapv:UnspecifiedMatching +DOID:9736 blue drum syndrome oboInOwl:hasDbXref UMLS:C0395863 semapv:UnspecifiedMatching DOID:9739 eustachian tube disease oboInOwl:hasDbXref ICD9CM:381.8 semapv:UnspecifiedMatching -DOID:9739 eustachian tube disease oboInOwl:hasDbXref UMLS_CUI:C0155435 semapv:UnspecifiedMatching +DOID:9739 eustachian tube disease oboInOwl:hasDbXref UMLS:C0155435 semapv:UnspecifiedMatching DOID:974 upper respiratory tract disease oboInOwl:hasDbXref ICD9CM:478.19 semapv:UnspecifiedMatching -DOID:974 upper respiratory tract disease oboInOwl:hasDbXref UMLS_CUI:C0029581 semapv:UnspecifiedMatching +DOID:974 upper respiratory tract disease oboInOwl:hasDbXref UMLS:C0029581 semapv:UnspecifiedMatching DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref ICD10CM:K91.5 semapv:UnspecifiedMatching DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref ICD9CM:576.0 semapv:UnspecifiedMatching DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref MESH:D017562 semapv:UnspecifiedMatching -DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref UMLS_CUI:C0152099 semapv:UnspecifiedMatching +DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref UMLS:C0152099 semapv:UnspecifiedMatching DOID:9741 biliary tract disease oboInOwl:hasDbXref ICD10CM:K83.9 semapv:UnspecifiedMatching DOID:9741 biliary tract disease oboInOwl:hasDbXref ICD9CM:576.9 semapv:UnspecifiedMatching DOID:9741 biliary tract disease oboInOwl:hasDbXref MESH:D001660 semapv:UnspecifiedMatching -DOID:9741 biliary tract disease oboInOwl:hasDbXref UMLS_CUI:C0005424 semapv:UnspecifiedMatching +DOID:9741 biliary tract disease oboInOwl:hasDbXref UMLS:C0005424 semapv:UnspecifiedMatching DOID:9742 pelvic varices oboInOwl:hasDbXref ICD10CM:I86.2 semapv:UnspecifiedMatching DOID:9742 pelvic varices oboInOwl:hasDbXref ICD9CM:456.5 semapv:UnspecifiedMatching -DOID:9742 pelvic varices oboInOwl:hasDbXref UMLS_CUI:C0155795 semapv:UnspecifiedMatching +DOID:9742 pelvic varices oboInOwl:hasDbXref UMLS:C0155795 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref ICD9CM:250.6 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref MESH:D003929 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref NCI:C26748 semapv:UnspecifiedMatching -DOID:9743 diabetic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0011882 semapv:UnspecifiedMatching +DOID:9743 diabetic neuropathy oboInOwl:hasDbXref UMLS:C0011882 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref EFO:0001359 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref GARD:10268 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching @@ -37474,115 +37788,115 @@ DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref KEGG:04940 semapv:Unspecif DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref MESH:D003922 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref NCI:C2986 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref OMIM:222100 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011854 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref UMLS:C0011854 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus skos:exactMatch OMIM:222100 semapv:UnspecifiedMatching DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD10CM:K64.5 semapv:UnspecifiedMatching DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD9CM:455.4 semapv:UnspecifiedMatching -DOID:9745 perianal hematoma oboInOwl:hasDbXref UMLS_CUI:C0155784 semapv:UnspecifiedMatching +DOID:9745 perianal hematoma oboInOwl:hasDbXref UMLS:C0155784 semapv:UnspecifiedMatching DOID:9746 hemorrhoid oboInOwl:hasDbXref ICD10CM:K64 semapv:UnspecifiedMatching DOID:9746 hemorrhoid oboInOwl:hasDbXref ICD9CM:455 semapv:UnspecifiedMatching DOID:9746 hemorrhoid oboInOwl:hasDbXref MESH:D006484 semapv:UnspecifiedMatching DOID:9746 hemorrhoid oboInOwl:hasDbXref NCI:C26792 semapv:UnspecifiedMatching -DOID:9746 hemorrhoid oboInOwl:hasDbXref UMLS_CUI:C0019112 semapv:UnspecifiedMatching +DOID:9746 hemorrhoid oboInOwl:hasDbXref UMLS:C0019112 semapv:UnspecifiedMatching DOID:9749 internal hemorrhoid oboInOwl:hasDbXref ICD9CM:455.6 semapv:UnspecifiedMatching -DOID:9749 internal hemorrhoid oboInOwl:hasDbXref UMLS_CUI:C0041844 semapv:UnspecifiedMatching +DOID:9749 internal hemorrhoid oboInOwl:hasDbXref UMLS:C0041844 semapv:UnspecifiedMatching DOID:9754 ganglion or cyst of synovium/tendon/bursa oboInOwl:hasDbXref ICD9CM:727.49 semapv:UnspecifiedMatching -DOID:9754 ganglion or cyst of synovium/tendon/bursa oboInOwl:hasDbXref UMLS_CUI:C0158336 semapv:UnspecifiedMatching +DOID:9754 ganglion or cyst of synovium/tendon/bursa oboInOwl:hasDbXref UMLS:C0158336 semapv:UnspecifiedMatching DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref MESH:D041882 semapv:UnspecifiedMatching DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref NCI:C35592 semapv:UnspecifiedMatching -DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0521610 semapv:UnspecifiedMatching +DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref UMLS:C0521610 semapv:UnspecifiedMatching DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref GARD:9451 semapv:UnspecifiedMatching DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref MESH:C536762 semapv:UnspecifiedMatching DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref NCI:C35792 semapv:UnspecifiedMatching -DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C1337035 semapv:UnspecifiedMatching +DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref UMLS:C1337035 semapv:UnspecifiedMatching DOID:9767 myocardial stunning oboInOwl:hasDbXref MESH:D017682 semapv:UnspecifiedMatching -DOID:9767 myocardial stunning oboInOwl:hasDbXref UMLS_CUI:C0206146 semapv:UnspecifiedMatching +DOID:9767 myocardial stunning oboInOwl:hasDbXref UMLS:C0206146 semapv:UnspecifiedMatching DOID:9768 heart aneurysm oboInOwl:hasDbXref ICD10CM:I25.3 semapv:UnspecifiedMatching DOID:9768 heart aneurysm oboInOwl:hasDbXref MESH:D006322 semapv:UnspecifiedMatching -DOID:9768 heart aneurysm oboInOwl:hasDbXref UMLS_CUI:C0018789 semapv:UnspecifiedMatching +DOID:9768 heart aneurysm oboInOwl:hasDbXref UMLS:C0018789 semapv:UnspecifiedMatching DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref ICD10CM:P61.0 semapv:UnspecifiedMatching DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref ICD9CM:776.1 semapv:UnspecifiedMatching -DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0158991 semapv:UnspecifiedMatching +DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref UMLS:C0158991 semapv:UnspecifiedMatching DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref ICD10CM:C50.41 semapv:UnspecifiedMatching DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref ICD9CM:174.4 semapv:UnspecifiedMatching -DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153552 semapv:UnspecifiedMatching +DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref UMLS:C0153552 semapv:UnspecifiedMatching DOID:9775 diastolic heart failure oboInOwl:hasDbXref ICD10CM:I50.30 semapv:UnspecifiedMatching DOID:9775 diastolic heart failure oboInOwl:hasDbXref ICD9CM:428.3 semapv:UnspecifiedMatching DOID:9775 diastolic heart failure oboInOwl:hasDbXref MESH:D054144 semapv:UnspecifiedMatching -DOID:9775 diastolic heart failure oboInOwl:hasDbXref UMLS_CUI:C1135196 semapv:UnspecifiedMatching +DOID:9775 diastolic heart failure oboInOwl:hasDbXref UMLS:C1135196 semapv:UnspecifiedMatching DOID:9776 Senile atrophy of choroid oboInOwl:hasDbXref ICD9CM:363.41 semapv:UnspecifiedMatching -DOID:9776 Senile atrophy of choroid oboInOwl:hasDbXref UMLS_CUI:C0154891 semapv:UnspecifiedMatching +DOID:9776 Senile atrophy of choroid oboInOwl:hasDbXref UMLS:C0154891 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref ICD10CM:K58 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref ICD9CM:564.1 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref KEGG:05321 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref MESH:D043183 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref NCI:C82343 semapv:UnspecifiedMatching -DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref UMLS_CUI:C0022104 semapv:UnspecifiedMatching +DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref UMLS:C0022104 semapv:UnspecifiedMatching DOID:9779 bowel dysfunction oboInOwl:hasDbXref ICD10CM:K59.9 semapv:UnspecifiedMatching DOID:9779 bowel dysfunction oboInOwl:hasDbXref ICD9CM:564.9 semapv:UnspecifiedMatching -DOID:9779 bowel dysfunction oboInOwl:hasDbXref UMLS_CUI:C0016807 semapv:UnspecifiedMatching +DOID:9779 bowel dysfunction oboInOwl:hasDbXref UMLS:C0016807 semapv:UnspecifiedMatching DOID:9784 trichinosis oboInOwl:hasDbXref ICD10CM:B75 semapv:UnspecifiedMatching DOID:9784 trichinosis oboInOwl:hasDbXref ICD9CM:124 semapv:UnspecifiedMatching DOID:9784 trichinosis oboInOwl:hasDbXref MESH:D014235 semapv:UnspecifiedMatching DOID:9784 trichinosis oboInOwl:hasDbXref NCI:C85199 semapv:UnspecifiedMatching -DOID:9784 trichinosis oboInOwl:hasDbXref UMLS_CUI:C0040896 semapv:UnspecifiedMatching +DOID:9784 trichinosis oboInOwl:hasDbXref UMLS:C0040896 semapv:UnspecifiedMatching DOID:9786 bulbar polio oboInOwl:hasDbXref ICD9CM:045.0 semapv:UnspecifiedMatching DOID:9786 bulbar polio oboInOwl:hasDbXref MESH:D011052 semapv:UnspecifiedMatching -DOID:9786 bulbar polio oboInOwl:hasDbXref UMLS_CUI:C0032372 semapv:UnspecifiedMatching +DOID:9786 bulbar polio oboInOwl:hasDbXref UMLS:C0032372 semapv:UnspecifiedMatching DOID:9788 myositis fibrosa oboInOwl:hasDbXref ICD10CM:M60.1 semapv:UnspecifiedMatching DOID:9788 myositis fibrosa oboInOwl:hasDbXref ICD9CM:728.81 semapv:UnspecifiedMatching DOID:9788 myositis fibrosa oboInOwl:hasDbXref NCI:C26985 semapv:UnspecifiedMatching -DOID:9788 myositis fibrosa oboInOwl:hasDbXref UMLS_CUI:C0158362 semapv:UnspecifiedMatching +DOID:9788 myositis fibrosa oboInOwl:hasDbXref UMLS:C0158362 semapv:UnspecifiedMatching DOID:979 angioid streaks of choroid oboInOwl:hasDbXref ICD9CM:363.43 semapv:UnspecifiedMatching -DOID:979 angioid streaks of choroid oboInOwl:hasDbXref UMLS_CUI:C0002983 semapv:UnspecifiedMatching +DOID:979 angioid streaks of choroid oboInOwl:hasDbXref UMLS:C0002983 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref GARD:7788 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref ICD10CM:B83.0 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref MESH:D007816 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref NCI:C34758 semapv:UnspecifiedMatching -DOID:9790 toxocariasis oboInOwl:hasDbXref UMLS_CUI:C0023049 semapv:UnspecifiedMatching +DOID:9790 toxocariasis oboInOwl:hasDbXref UMLS:C0023049 semapv:UnspecifiedMatching DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref ICD10CM:H31.2 semapv:UnspecifiedMatching DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref ICD9CM:363.5 semapv:UnspecifiedMatching -DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref UMLS_CUI:C0154893 semapv:UnspecifiedMatching +DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref UMLS:C0154893 semapv:UnspecifiedMatching DOID:9799 eye degenerative disease oboInOwl:hasDbXref ICD10CM:H44.5 semapv:UnspecifiedMatching DOID:9799 eye degenerative disease oboInOwl:hasDbXref ICD9CM:360.4 semapv:UnspecifiedMatching -DOID:9799 eye degenerative disease oboInOwl:hasDbXref UMLS_CUI:C0154777 semapv:UnspecifiedMatching +DOID:9799 eye degenerative disease oboInOwl:hasDbXref UMLS:C0154777 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref ICD10CM:H31.10 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref ICD9CM:363.4 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref MESH:C535358 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref OMIM:215500 semapv:UnspecifiedMatching -DOID:980 choroidal sclerosis oboInOwl:hasDbXref UMLS_CUI:C0344297 semapv:UnspecifiedMatching +DOID:980 choroidal sclerosis oboInOwl:hasDbXref UMLS:C0344297 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis skos:exactMatch OMIM:215500 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref ICD10CM:A18.31 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref ICD9CM:014.0 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref MESH:D014395 semapv:UnspecifiedMatching -DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref UMLS_CUI:C0041325 semapv:UnspecifiedMatching +DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref UMLS:C0041325 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref GARD:2551 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref ICD10CM:M31.0 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref ICD9CM:446.21 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref MESH:D019867 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref NCI:C84566 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref OMIM:233450 semapv:UnspecifiedMatching -DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref UMLS_CUI:C0403529 semapv:UnspecifiedMatching +DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref UMLS:C0403529 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome skos:exactMatch OMIM:233450 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref GARD:7851 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref ICD10CM:M31.0 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref ICD9CM:446.2 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref MESH:D018366 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref NCI:C35119 semapv:UnspecifiedMatching -DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref UMLS_CUI:C0151436 semapv:UnspecifiedMatching +DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref UMLS:C0151436 semapv:UnspecifiedMatching DOID:981 diffuse secondary choroid atrophy oboInOwl:hasDbXref ICD10CM:H31.12 semapv:UnspecifiedMatching DOID:981 diffuse secondary choroid atrophy oboInOwl:hasDbXref ICD9CM:363.42 semapv:UnspecifiedMatching -DOID:981 diffuse secondary choroid atrophy oboInOwl:hasDbXref UMLS_CUI:C0154892 semapv:UnspecifiedMatching +DOID:981 diffuse secondary choroid atrophy oboInOwl:hasDbXref UMLS:C0154892 semapv:UnspecifiedMatching DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref GARD:7360 semapv:UnspecifiedMatching DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref ICD10CM:M30.0 semapv:UnspecifiedMatching DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref ICD9CM:446.0 semapv:UnspecifiedMatching DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref MESH:D010488 semapv:UnspecifiedMatching DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref NCI:C26847 semapv:UnspecifiedMatching -DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref UMLS_CUI:C0031036 semapv:UnspecifiedMatching +DOID:9810 polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0031036 semapv:UnspecifiedMatching DOID:9811 partial circumpapillary choroid dystrophy oboInOwl:hasDbXref ICD9CM:363.51 semapv:UnspecifiedMatching -DOID:9811 partial circumpapillary choroid dystrophy oboInOwl:hasDbXref UMLS_CUI:C0154895 semapv:UnspecifiedMatching +DOID:9811 partial circumpapillary choroid dystrophy oboInOwl:hasDbXref UMLS:C0154895 semapv:UnspecifiedMatching DOID:9820 central gyrate choroidal dystrophy oboInOwl:hasDbXref ICD9CM:363.54 semapv:UnspecifiedMatching -DOID:9820 central gyrate choroidal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0154898 semapv:UnspecifiedMatching +DOID:9820 central gyrate choroidal dystrophy oboInOwl:hasDbXref UMLS:C0154898 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref GARD:6061 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref ICD10CM:H31.21 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref ICD9CM:363.55 semapv:UnspecifiedMatching @@ -37590,90 +37904,90 @@ DOID:9821 choroideremia oboInOwl:hasDbXref MESH:D015794 semapv:UnspecifiedMatchi DOID:9821 choroideremia oboInOwl:hasDbXref NCI:C34469 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref OMIM:303100 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref ORDO:180 semapv:UnspecifiedMatching -DOID:9821 choroideremia oboInOwl:hasDbXref UMLS_CUI:C0008525 semapv:UnspecifiedMatching +DOID:9821 choroideremia oboInOwl:hasDbXref UMLS:C0008525 semapv:UnspecifiedMatching DOID:9821 choroideremia skos:exactMatch MESH:D015794 semapv:UnspecifiedMatching DOID:9821 choroideremia skos:exactMatch OMIM:303100 semapv:UnspecifiedMatching DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref ICD9CM:363.53 semapv:UnspecifiedMatching DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref OMIM:613105 semapv:UnspecifiedMatching -DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339427 semapv:UnspecifiedMatching +DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref UMLS:C0339427 semapv:UnspecifiedMatching DOID:9822 partial central choroid dystrophy skos:exactMatch OMIM:613105 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref ICD10CM:Q74.0 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref ICD9CM:755.53 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref MESH:C562408 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching -DOID:9827 radioulnar synostosis oboInOwl:hasDbXref UMLS_CUI:C0158761 semapv:UnspecifiedMatching +DOID:9827 radioulnar synostosis oboInOwl:hasDbXref UMLS:C0158761 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis skos:exactMatch OMIM:179300 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref ICD10CM:P96.1 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref ICD9CM:779.5 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref MESH:D009357 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref NCI:C35808 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref NCI:C87101 semapv:UnspecifiedMatching -DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref UMLS_CUI:C0027609 semapv:UnspecifiedMatching -DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref UMLS_CUI:C1332133 semapv:UnspecifiedMatching +DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref UMLS:C0027609 semapv:UnspecifiedMatching +DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref UMLS:C1332133 semapv:UnspecifiedMatching DOID:9834 hyperopia oboInOwl:hasDbXref ICD10CM:H52.0 semapv:UnspecifiedMatching DOID:9834 hyperopia oboInOwl:hasDbXref ICD9CM:367.0 semapv:UnspecifiedMatching DOID:9834 hyperopia oboInOwl:hasDbXref MESH:D006956 semapv:UnspecifiedMatching -DOID:9834 hyperopia oboInOwl:hasDbXref UMLS_CUI:C0020490 semapv:UnspecifiedMatching +DOID:9834 hyperopia oboInOwl:hasDbXref UMLS:C0020490 semapv:UnspecifiedMatching DOID:9835 refractive error oboInOwl:hasDbXref EFO:0003908 semapv:UnspecifiedMatching DOID:9835 refractive error oboInOwl:hasDbXref ICD10CM:H52.7 semapv:UnspecifiedMatching DOID:9835 refractive error oboInOwl:hasDbXref MESH:D012030 semapv:UnspecifiedMatching DOID:9835 refractive error oboInOwl:hasDbXref NCI:C87145 semapv:UnspecifiedMatching -DOID:9835 refractive error oboInOwl:hasDbXref UMLS_CUI:C0034951 semapv:UnspecifiedMatching +DOID:9835 refractive error oboInOwl:hasDbXref UMLS:C0034951 semapv:UnspecifiedMatching DOID:9837 hypertropia oboInOwl:hasDbXref ICD10CM:H50.2 semapv:UnspecifiedMatching DOID:9837 hypertropia oboInOwl:hasDbXref ICD9CM:378.31 semapv:UnspecifiedMatching DOID:9837 hypertropia oboInOwl:hasDbXref MESH:D013285 semapv:UnspecifiedMatching DOID:9837 hypertropia oboInOwl:hasDbXref NCI:C34716 semapv:UnspecifiedMatching -DOID:9837 hypertropia oboInOwl:hasDbXref UMLS_CUI:C0020575 semapv:UnspecifiedMatching +DOID:9837 hypertropia oboInOwl:hasDbXref UMLS:C0020575 semapv:UnspecifiedMatching DOID:9838 cyclotropia oboInOwl:hasDbXref ICD10CM:H50.41 semapv:UnspecifiedMatching DOID:9838 cyclotropia oboInOwl:hasDbXref ICD9CM:378.33 semapv:UnspecifiedMatching DOID:9838 cyclotropia oboInOwl:hasDbXref MESH:C000721272 semapv:UnspecifiedMatching -DOID:9838 cyclotropia oboInOwl:hasDbXref UMLS_CUI:C0152209 semapv:UnspecifiedMatching +DOID:9838 cyclotropia oboInOwl:hasDbXref UMLS:C0152209 semapv:UnspecifiedMatching DOID:9839 accommodative esotropia oboInOwl:hasDbXref ICD10CM:H50.43 semapv:UnspecifiedMatching DOID:9839 accommodative esotropia oboInOwl:hasDbXref ICD9CM:378.35 semapv:UnspecifiedMatching -DOID:9839 accommodative esotropia oboInOwl:hasDbXref UMLS_CUI:C0155336 semapv:UnspecifiedMatching +DOID:9839 accommodative esotropia oboInOwl:hasDbXref UMLS:C0155336 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref GARD:8235 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref ICD10CM:H50.0 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref ICD9CM:378.0 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref MESH:D004948 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref NCI:C34596 semapv:UnspecifiedMatching -DOID:9840 esotropia oboInOwl:hasDbXref UMLS_CUI:C0014877 semapv:UnspecifiedMatching +DOID:9840 esotropia oboInOwl:hasDbXref UMLS:C0014877 semapv:UnspecifiedMatching DOID:9841 hypotropia oboInOwl:hasDbXref ICD9CM:378.32 semapv:UnspecifiedMatching DOID:9841 hypotropia oboInOwl:hasDbXref NCI:C42086 semapv:UnspecifiedMatching -DOID:9841 hypotropia oboInOwl:hasDbXref UMLS_CUI:C0152208 semapv:UnspecifiedMatching +DOID:9841 hypotropia oboInOwl:hasDbXref UMLS:C0152208 semapv:UnspecifiedMatching DOID:9842 total circumpapillary dystrophy of choroid oboInOwl:hasDbXref ICD9CM:363.52 semapv:UnspecifiedMatching -DOID:9842 total circumpapillary dystrophy of choroid oboInOwl:hasDbXref UMLS_CUI:C0154896 semapv:UnspecifiedMatching +DOID:9842 total circumpapillary dystrophy of choroid oboInOwl:hasDbXref UMLS:C0154896 semapv:UnspecifiedMatching DOID:9843 monofixation syndrome oboInOwl:hasDbXref ICD10CM:H50.42 semapv:UnspecifiedMatching DOID:9843 monofixation syndrome oboInOwl:hasDbXref ICD9CM:378.34 semapv:UnspecifiedMatching -DOID:9843 monofixation syndrome oboInOwl:hasDbXref UMLS_CUI:C0339611 semapv:UnspecifiedMatching +DOID:9843 monofixation syndrome oboInOwl:hasDbXref UMLS:C0339611 semapv:UnspecifiedMatching DOID:9847 peripheral vertigo oboInOwl:hasDbXref ICD10CM:H81.399 semapv:UnspecifiedMatching DOID:9847 peripheral vertigo oboInOwl:hasDbXref ICD9CM:386.19 semapv:UnspecifiedMatching -DOID:9847 peripheral vertigo oboInOwl:hasDbXref UMLS_CUI:C0029706 semapv:UnspecifiedMatching +DOID:9847 peripheral vertigo oboInOwl:hasDbXref UMLS:C0029706 semapv:UnspecifiedMatching DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref ICD10CM:H81.0 semapv:UnspecifiedMatching DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref MESH:D018159 semapv:UnspecifiedMatching -DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref UMLS_CUI:C0206586 semapv:UnspecifiedMatching +DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref UMLS:C0206586 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref GARD:10340 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref ICD10CM:H81.0 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref ICD9CM:386.0 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref MESH:D008575 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref NCI:C185243 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref OMIM:156000 semapv:UnspecifiedMatching -DOID:9849 Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0025281 semapv:UnspecifiedMatching +DOID:9849 Meniere's disease oboInOwl:hasDbXref UMLS:C0025281 semapv:UnspecifiedMatching DOID:9849 Meniere's disease skos:exactMatch OMIM:156000 semapv:UnspecifiedMatching DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref ICD10CM:G24.4 semapv:UnspecifiedMatching DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref ICD9CM:333.82 semapv:UnspecifiedMatching DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref MESH:D020820 semapv:UnspecifiedMatching -DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref UMLS_CUI:C0152115 semapv:UnspecifiedMatching +DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref UMLS:C0152115 semapv:UnspecifiedMatching DOID:9856 congenital syphilis oboInOwl:hasDbXref ICD10CM:A50 semapv:UnspecifiedMatching DOID:9856 congenital syphilis oboInOwl:hasDbXref ICD9CM:090 semapv:UnspecifiedMatching DOID:9856 congenital syphilis oboInOwl:hasDbXref MESH:D013590 semapv:UnspecifiedMatching DOID:9856 congenital syphilis oboInOwl:hasDbXref NCI:C84649 semapv:UnspecifiedMatching -DOID:9856 congenital syphilis oboInOwl:hasDbXref UMLS_CUI:C0039131 semapv:UnspecifiedMatching +DOID:9856 congenital syphilis oboInOwl:hasDbXref UMLS:C0039131 semapv:UnspecifiedMatching DOID:9857 interstitial keratitis oboInOwl:hasDbXref ICD10CM:H16.30 semapv:UnspecifiedMatching DOID:9857 interstitial keratitis oboInOwl:hasDbXref ICD9CM:370.50 semapv:UnspecifiedMatching -DOID:9857 interstitial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155088 semapv:UnspecifiedMatching +DOID:9857 interstitial keratitis oboInOwl:hasDbXref UMLS:C0155088 semapv:UnspecifiedMatching DOID:9858 deep keratitis oboInOwl:hasDbXref ICD10CM:H16.3 semapv:UnspecifiedMatching DOID:9858 deep keratitis oboInOwl:hasDbXref ICD9CM:370.5 semapv:UnspecifiedMatching -DOID:9858 deep keratitis oboInOwl:hasDbXref UMLS_CUI:C0155087 semapv:UnspecifiedMatching +DOID:9858 deep keratitis oboInOwl:hasDbXref UMLS:C0155087 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref EFO:0004192 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref GARD:5782 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref ICD10CM:L63 semapv:UnspecifiedMatching @@ -37681,32 +37995,32 @@ DOID:986 alopecia areata oboInOwl:hasDbXref ICD9CM:704.01 semapv:UnspecifiedMatc DOID:986 alopecia areata oboInOwl:hasDbXref MESH:D000506 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching -DOID:986 alopecia areata oboInOwl:hasDbXref UMLS_CUI:C0002171 semapv:UnspecifiedMatching +DOID:986 alopecia areata oboInOwl:hasDbXref UMLS:C0002171 semapv:UnspecifiedMatching DOID:986 alopecia areata skos:exactMatch MESH:D000506 semapv:UnspecifiedMatching DOID:9861 miliary tuberculosis oboInOwl:hasDbXref ICD10CM:A19 semapv:UnspecifiedMatching DOID:9861 miliary tuberculosis oboInOwl:hasDbXref ICD9CM:018 semapv:UnspecifiedMatching DOID:9861 miliary tuberculosis oboInOwl:hasDbXref MESH:D014391 semapv:UnspecifiedMatching DOID:9861 miliary tuberculosis oboInOwl:hasDbXref NCI:C35086 semapv:UnspecifiedMatching -DOID:9861 miliary tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041321 semapv:UnspecifiedMatching +DOID:9861 miliary tuberculosis oboInOwl:hasDbXref UMLS:C0041321 semapv:UnspecifiedMatching DOID:9867 toxic maculopathy oboInOwl:hasDbXref ICD10CM:H35.38 semapv:UnspecifiedMatching DOID:9867 toxic maculopathy oboInOwl:hasDbXref ICD9CM:362.55 semapv:UnspecifiedMatching -DOID:9867 toxic maculopathy oboInOwl:hasDbXref UMLS_CUI:C0271086 semapv:UnspecifiedMatching +DOID:9867 toxic maculopathy oboInOwl:hasDbXref UMLS:C0271086 semapv:UnspecifiedMatching DOID:9868 intestinal disaccharidase deficiency oboInOwl:hasDbXref ICD9CM:271.3 semapv:UnspecifiedMatching DOID:9868 intestinal disaccharidase deficiency oboInOwl:hasDbXref NCI:C34731 semapv:UnspecifiedMatching -DOID:9868 intestinal disaccharidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0021830 semapv:UnspecifiedMatching +DOID:9868 intestinal disaccharidase deficiency oboInOwl:hasDbXref UMLS:C0021830 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref ICD10CM:E74.12 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref ICD9CM:271.2 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref MESH:D005633 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref NCI:C84720 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref OMIM:229600 semapv:UnspecifiedMatching -DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref UMLS_CUI:C0016751 semapv:UnspecifiedMatching +DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref UMLS:C0016751 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome skos:exactMatch OMIM:229600 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref ICD10CM:L65.9 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref ICD9CM:704.0 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref MESH:D000505 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref NCI:C50575 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref OMIMPS:203655 semapv:UnspecifiedMatching -DOID:987 alopecia oboInOwl:hasDbXref UMLS_CUI:C0002170 semapv:UnspecifiedMatching +DOID:987 alopecia oboInOwl:hasDbXref UMLS:C0002170 semapv:UnspecifiedMatching DOID:987 alopecia skos:exactMatch MESH:D000505 semapv:UnspecifiedMatching DOID:987 alopecia skos:exactMatch OMIMPS:203655 semapv:UnspecifiedMatching DOID:9870 galactosemia oboInOwl:hasDbXref GARD:2424 semapv:UnspecifiedMatching @@ -37714,22 +38028,22 @@ DOID:9870 galactosemia oboInOwl:hasDbXref ICD10CM:E74.21 semapv:UnspecifiedMatch DOID:9870 galactosemia oboInOwl:hasDbXref ICD9CM:271.1 semapv:UnspecifiedMatching DOID:9870 galactosemia oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:9870 galactosemia oboInOwl:hasDbXref NCI:C84723 semapv:UnspecifiedMatching -DOID:9870 galactosemia oboInOwl:hasDbXref UMLS_CUI:C0016952 semapv:UnspecifiedMatching +DOID:9870 galactosemia oboInOwl:hasDbXref UMLS:C0016952 semapv:UnspecifiedMatching DOID:9877 urethral gland abscess oboInOwl:hasDbXref ICD10CM:N34.0 semapv:UnspecifiedMatching DOID:9877 urethral gland abscess oboInOwl:hasDbXref ICD9CM:597.0 semapv:UnspecifiedMatching -DOID:9877 urethral gland abscess oboInOwl:hasDbXref UMLS_CUI:C0156278 semapv:UnspecifiedMatching +DOID:9877 urethral gland abscess oboInOwl:hasDbXref UMLS:C0156278 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref MESH:D008945 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref NCI:C50655 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:157700 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:607829 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:610840 semapv:UnspecifiedMatching -DOID:988 mitral valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0026267 semapv:UnspecifiedMatching +DOID:988 mitral valve prolapse oboInOwl:hasDbXref UMLS:C0026267 semapv:UnspecifiedMatching DOID:9880 cardiovascular syphilis oboInOwl:hasDbXref ICD9CM:093.8 semapv:UnspecifiedMatching -DOID:9880 cardiovascular syphilis oboInOwl:hasDbXref UMLS_CUI:C0029751 semapv:UnspecifiedMatching +DOID:9880 cardiovascular syphilis oboInOwl:hasDbXref UMLS:C0029751 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref GARD:5900 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref ORDO:98895 semapv:UnspecifiedMatching -DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0699741 semapv:UnspecifiedMatching +DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C0699741 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy skos:exactMatch OMIM:300376 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref GARD:7922 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching @@ -37742,91 +38056,91 @@ DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:309950 semapv:UnspecifiedMa DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310000 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310095 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:600416 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0026850 semapv:UnspecifiedMatching +DOID:9884 muscular dystrophy oboInOwl:hasDbXref UMLS:C0026850 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref ICD10CM:H50.05 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref ICD9CM:378.05 semapv:UnspecifiedMatching -DOID:9888 alternating esotropia oboInOwl:hasDbXref UMLS_CUI:C0152205 semapv:UnspecifiedMatching +DOID:9888 alternating esotropia oboInOwl:hasDbXref UMLS:C0152205 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref ICD10CM:I77.4 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref ICD9CM:447.4 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref MESH:D000074742 semapv:UnspecifiedMatching -DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref UMLS_CUI:C1861783 semapv:UnspecifiedMatching +DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref UMLS:C1861783 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome skos:exactMatch MESH:D000074742 semapv:UnspecifiedMatching DOID:9893 periodontosis oboInOwl:hasDbXref ICD10CM:K05.4 semapv:UnspecifiedMatching DOID:9893 periodontosis oboInOwl:hasDbXref ICD9CM:523.5 semapv:UnspecifiedMatching DOID:9893 periodontosis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching -DOID:9893 periodontosis oboInOwl:hasDbXref UMLS_CUI:C0600298 semapv:UnspecifiedMatching +DOID:9893 periodontosis oboInOwl:hasDbXref UMLS:C0600298 semapv:UnspecifiedMatching DOID:9898 villonodular synovitis oboInOwl:hasDbXref ICD10CM:M12.20 semapv:UnspecifiedMatching DOID:9898 villonodular synovitis oboInOwl:hasDbXref ICD9CM:719.2 semapv:UnspecifiedMatching -DOID:9898 villonodular synovitis oboInOwl:hasDbXref UMLS_CUI:C0158168 semapv:UnspecifiedMatching +DOID:9898 villonodular synovitis oboInOwl:hasDbXref UMLS:C0158168 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref GARD:6164 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref ICD10CM:Q24.6 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref ICD9CM:746.86 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching -DOID:990 congenital heart block oboInOwl:hasDbXref UMLS_CUI:C0149530 semapv:UnspecifiedMatching +DOID:990 congenital heart block oboInOwl:hasDbXref UMLS:C0149530 semapv:UnspecifiedMatching DOID:990 congenital heart block skos:exactMatch OMIM:234700 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref ICD10CM:H00.1 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref ICD9CM:373.2 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref MESH:D017043 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref NCI:C26717 semapv:UnspecifiedMatching -DOID:9903 meibomian cyst oboInOwl:hasDbXref UMLS_CUI:C0007933 semapv:UnspecifiedMatching +DOID:9903 meibomian cyst oboInOwl:hasDbXref UMLS:C0007933 semapv:UnspecifiedMatching DOID:9905 follicular mucinosis oboInOwl:hasDbXref ICD10CM:L65.2 semapv:UnspecifiedMatching DOID:9905 follicular mucinosis oboInOwl:hasDbXref MESH:D000507 semapv:UnspecifiedMatching DOID:9905 follicular mucinosis oboInOwl:hasDbXref NCI:C82859 semapv:UnspecifiedMatching -DOID:9905 follicular mucinosis oboInOwl:hasDbXref UMLS_CUI:C0002173 semapv:UnspecifiedMatching +DOID:9905 follicular mucinosis oboInOwl:hasDbXref UMLS:C0002173 semapv:UnspecifiedMatching DOID:9908 internal hordeolum oboInOwl:hasDbXref ICD10CM:H00.02 semapv:UnspecifiedMatching DOID:9908 internal hordeolum oboInOwl:hasDbXref ICD9CM:373.12 semapv:UnspecifiedMatching -DOID:9908 internal hordeolum oboInOwl:hasDbXref UMLS_CUI:C0085690 semapv:UnspecifiedMatching +DOID:9908 internal hordeolum oboInOwl:hasDbXref UMLS:C0085690 semapv:UnspecifiedMatching DOID:9909 hordeolum oboInOwl:hasDbXref ICD10CM:H00.01 semapv:UnspecifiedMatching DOID:9909 hordeolum oboInOwl:hasDbXref MESH:D006726 semapv:UnspecifiedMatching DOID:9909 hordeolum oboInOwl:hasDbXref NCI:C118722 semapv:UnspecifiedMatching -DOID:9909 hordeolum oboInOwl:hasDbXref UMLS_CUI:C0019917 semapv:UnspecifiedMatching +DOID:9909 hordeolum oboInOwl:hasDbXref UMLS:C0019917 semapv:UnspecifiedMatching DOID:9910 central corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.01 semapv:UnspecifiedMatching DOID:9910 central corneal ulcer oboInOwl:hasDbXref ICD9CM:370.03 semapv:UnspecifiedMatching -DOID:9910 central corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155069 semapv:UnspecifiedMatching +DOID:9910 central corneal ulcer oboInOwl:hasDbXref UMLS:C0155069 semapv:UnspecifiedMatching DOID:9911 infected hydrocele oboInOwl:hasDbXref ICD10CM:N43.1 semapv:UnspecifiedMatching DOID:9911 infected hydrocele oboInOwl:hasDbXref ICD9CM:603.1 semapv:UnspecifiedMatching -DOID:9911 infected hydrocele oboInOwl:hasDbXref UMLS_CUI:C0156300 semapv:UnspecifiedMatching +DOID:9911 infected hydrocele oboInOwl:hasDbXref UMLS:C0156300 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref GARD:8254 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.1 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD9CM:065.1 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref MESH:D006481 semapv:UnspecifiedMatching -DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0019103 semapv:UnspecifiedMatching +DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019103 semapv:UnspecifiedMatching DOID:9923 developmental coordination disorder oboInOwl:hasDbXref ICD10CM:F82 semapv:UnspecifiedMatching DOID:9923 developmental coordination disorder oboInOwl:hasDbXref ICD9CM:315.4 semapv:UnspecifiedMatching DOID:9923 developmental coordination disorder oboInOwl:hasDbXref MESH:D019957 semapv:UnspecifiedMatching DOID:9923 developmental coordination disorder oboInOwl:hasDbXref NCI:C92561 semapv:UnspecifiedMatching -DOID:9923 developmental coordination disorder oboInOwl:hasDbXref UMLS_CUI:C0011757 semapv:UnspecifiedMatching +DOID:9923 developmental coordination disorder oboInOwl:hasDbXref UMLS:C0011757 semapv:UnspecifiedMatching DOID:9931 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref GARD:9449 semapv:UnspecifiedMatching DOID:9931 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MESH:D014884 semapv:UnspecifiedMatching DOID:9931 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref NCI:C85225 semapv:UnspecifiedMatching -DOID:9931 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref UMLS_CUI:C0043068 semapv:UnspecifiedMatching +DOID:9931 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref UMLS:C0043068 semapv:UnspecifiedMatching DOID:9935 chronic inflammation of lacrimal passage oboInOwl:hasDbXref ICD10CM:H04.4 semapv:UnspecifiedMatching DOID:9935 chronic inflammation of lacrimal passage oboInOwl:hasDbXref ICD9CM:375.4 semapv:UnspecifiedMatching -DOID:9935 chronic inflammation of lacrimal passage oboInOwl:hasDbXref UMLS_CUI:C0155239 semapv:UnspecifiedMatching +DOID:9935 chronic inflammation of lacrimal passage oboInOwl:hasDbXref UMLS:C0155239 semapv:UnspecifiedMatching DOID:9936 chronic canaliculitis oboInOwl:hasDbXref ICD10CM:H04.42 semapv:UnspecifiedMatching DOID:9936 chronic canaliculitis oboInOwl:hasDbXref ICD9CM:375.41 semapv:UnspecifiedMatching -DOID:9936 chronic canaliculitis oboInOwl:hasDbXref UMLS_CUI:C0155240 semapv:UnspecifiedMatching +DOID:9936 chronic canaliculitis oboInOwl:hasDbXref UMLS:C0155240 semapv:UnspecifiedMatching DOID:9937 chronic dacryocystitis oboInOwl:hasDbXref ICD10CM:H04.41 semapv:UnspecifiedMatching DOID:9937 chronic dacryocystitis oboInOwl:hasDbXref ICD9CM:375.42 semapv:UnspecifiedMatching -DOID:9937 chronic dacryocystitis oboInOwl:hasDbXref UMLS_CUI:C0149506 semapv:UnspecifiedMatching +DOID:9937 chronic dacryocystitis oboInOwl:hasDbXref UMLS:C0149506 semapv:UnspecifiedMatching DOID:9938 dacryocystitis oboInOwl:hasDbXref ICD10CM:H04.30 semapv:UnspecifiedMatching DOID:9938 dacryocystitis oboInOwl:hasDbXref ICD9CM:375.30 semapv:UnspecifiedMatching DOID:9938 dacryocystitis oboInOwl:hasDbXref MESH:D003607 semapv:UnspecifiedMatching DOID:9938 dacryocystitis oboInOwl:hasDbXref NCI:C34521 semapv:UnspecifiedMatching -DOID:9938 dacryocystitis oboInOwl:hasDbXref UMLS_CUI:C0010930 semapv:UnspecifiedMatching +DOID:9938 dacryocystitis oboInOwl:hasDbXref UMLS:C0010930 semapv:UnspecifiedMatching DOID:9939 dacryocystocele oboInOwl:hasDbXref ICD9CM:375.43 semapv:UnspecifiedMatching DOID:9939 dacryocystocele oboInOwl:hasDbXref NCI:C98968 semapv:UnspecifiedMatching -DOID:9939 dacryocystocele oboInOwl:hasDbXref UMLS_CUI:C0155241 semapv:UnspecifiedMatching +DOID:9939 dacryocystocele oboInOwl:hasDbXref UMLS:C0155241 semapv:UnspecifiedMatching DOID:9942 lymph node disease oboInOwl:hasDbXref NCI:C35346 semapv:UnspecifiedMatching -DOID:9942 lymph node disease oboInOwl:hasDbXref UMLS_CUI:C0272394 semapv:UnspecifiedMatching +DOID:9942 lymph node disease oboInOwl:hasDbXref UMLS:C0272394 semapv:UnspecifiedMatching DOID:9945 constant exophthalmos oboInOwl:hasDbXref ICD10CM:H05.24 semapv:UnspecifiedMatching DOID:9945 constant exophthalmos oboInOwl:hasDbXref ICD9CM:376.31 semapv:UnspecifiedMatching -DOID:9945 constant exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155267 semapv:UnspecifiedMatching +DOID:9945 constant exophthalmos oboInOwl:hasDbXref UMLS:C0155267 semapv:UnspecifiedMatching DOID:9946 steroid-induced glaucoma oboInOwl:hasDbXref ICD9CM:365.3 semapv:UnspecifiedMatching -DOID:9946 steroid-induced glaucoma oboInOwl:hasDbXref UMLS_CUI:C0339578 semapv:UnspecifiedMatching +DOID:9946 steroid-induced glaucoma oboInOwl:hasDbXref UMLS:C0339578 semapv:UnspecifiedMatching DOID:9948 residual stage corticosteroid-induced glaucoma oboInOwl:hasDbXref ICD9CM:365.32 semapv:UnspecifiedMatching -DOID:9948 residual stage corticosteroid-induced glaucoma oboInOwl:hasDbXref UMLS_CUI:C0339580 semapv:UnspecifiedMatching +DOID:9948 residual stage corticosteroid-induced glaucoma oboInOwl:hasDbXref UMLS:C0339580 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref EFO:0000220 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref GARD:522 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10CM:C91.00 semapv:UnspecifiedMatching @@ -37836,14 +38150,14 @@ DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C7055 semapv:Unspe DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:247640 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:613065 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref ORDO:513 semapv:UnspecifiedMatching -DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023449 semapv:UnspecifiedMatching -DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS_CUI:C1335469 semapv:UnspecifiedMatching +DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0023449 semapv:UnspecifiedMatching +DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1335469 semapv:UnspecifiedMatching DOID:9953 acute biphenotypic leukemia oboInOwl:hasDbXref ICD10CM:C95.0 semapv:UnspecifiedMatching DOID:9953 acute biphenotypic leukemia oboInOwl:hasDbXref ICDO:9805/3 semapv:UnspecifiedMatching DOID:9953 acute biphenotypic leukemia oboInOwl:hasDbXref MESH:D015456 semapv:UnspecifiedMatching DOID:9953 acute biphenotypic leukemia oboInOwl:hasDbXref NCI:C4673 semapv:UnspecifiedMatching -DOID:9953 acute biphenotypic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023464 semapv:UnspecifiedMatching -DOID:9954 null-cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023483 semapv:UnspecifiedMatching +DOID:9953 acute biphenotypic leukemia oboInOwl:hasDbXref UMLS:C0023464 semapv:UnspecifiedMatching +DOID:9954 null-cell leukemia oboInOwl:hasDbXref UMLS:C0023483 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref GARD:6739 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref ICD10CM:Q23.4 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref ICD9CM:746.7 semapv:UnspecifiedMatching @@ -37852,28 +38166,28 @@ DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref NCI:C98894 semapv:U DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:241550 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:614435 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref ORDO:2248 semapv:UnspecifiedMatching -DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref UMLS_CUI:C0152101 semapv:UnspecifiedMatching +DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref UMLS:C0152101 semapv:UnspecifiedMatching DOID:9957 periostitis oboInOwl:hasDbXref MESH:D010522 semapv:UnspecifiedMatching -DOID:9957 periostitis oboInOwl:hasDbXref UMLS_CUI:C0031111 semapv:UnspecifiedMatching +DOID:9957 periostitis oboInOwl:hasDbXref UMLS:C0031111 semapv:UnspecifiedMatching DOID:9958 hemometra oboInOwl:hasDbXref ICD10CM:N85.7 semapv:UnspecifiedMatching DOID:9958 hemometra oboInOwl:hasDbXref ICD9CM:621.4 semapv:UnspecifiedMatching DOID:9958 hemometra oboInOwl:hasDbXref MESH:D006409 semapv:UnspecifiedMatching -DOID:9958 hemometra oboInOwl:hasDbXref UMLS_CUI:C0018948 semapv:UnspecifiedMatching +DOID:9958 hemometra oboInOwl:hasDbXref UMLS:C0018948 semapv:UnspecifiedMatching DOID:9965 toxoplasmosis oboInOwl:hasDbXref ICD10CM:B58 semapv:UnspecifiedMatching DOID:9965 toxoplasmosis oboInOwl:hasDbXref ICD9CM:130 semapv:UnspecifiedMatching DOID:9965 toxoplasmosis oboInOwl:hasDbXref MESH:D014123 semapv:UnspecifiedMatching DOID:9965 toxoplasmosis oboInOwl:hasDbXref NCI:C3418 semapv:UnspecifiedMatching -DOID:9965 toxoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0040558 semapv:UnspecifiedMatching +DOID:9965 toxoplasmosis oboInOwl:hasDbXref UMLS:C0040558 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref ICD10CM:E67.1 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref ICD9CM:278.3 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref NCI:C26963 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref OMIM:115300 semapv:UnspecifiedMatching -DOID:9969 carotenemia oboInOwl:hasDbXref UMLS_CUI:C0154271 semapv:UnspecifiedMatching +DOID:9969 carotenemia oboInOwl:hasDbXref UMLS:C0154271 semapv:UnspecifiedMatching DOID:9969 carotenemia skos:exactMatch OMIM:115300 semapv:UnspecifiedMatching DOID:997 uterine inversion oboInOwl:hasDbXref ICD10CM:N85.5 semapv:UnspecifiedMatching DOID:997 uterine inversion oboInOwl:hasDbXref ICD9CM:665.2 semapv:UnspecifiedMatching DOID:997 uterine inversion oboInOwl:hasDbXref MESH:D019687 semapv:UnspecifiedMatching -DOID:997 uterine inversion oboInOwl:hasDbXref UMLS_CUI:C0162482 semapv:UnspecifiedMatching +DOID:997 uterine inversion oboInOwl:hasDbXref UMLS:C0162482 semapv:UnspecifiedMatching DOID:997 uterine inversion skos:exactMatch MESH:D019687 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref EFO:0001073 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref ICD10CM:E66.9 semapv:UnspecifiedMatching @@ -37881,432 +38195,432 @@ DOID:9970 obesity oboInOwl:hasDbXref ICD9CM:278.00 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref MESH:D009765 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref NCI:C159658 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref OMIM:601665 semapv:UnspecifiedMatching -DOID:9970 obesity oboInOwl:hasDbXref UMLS_CUI:C0028754 semapv:UnspecifiedMatching +DOID:9970 obesity oboInOwl:hasDbXref UMLS:C0028754 semapv:UnspecifiedMatching DOID:9970 obesity skos:exactMatch OMIM:601665 semapv:UnspecifiedMatching DOID:9971 hypervitaminosis D oboInOwl:hasDbXref ICD10CM:E67.3 semapv:UnspecifiedMatching DOID:9971 hypervitaminosis D oboInOwl:hasDbXref ICD9CM:278.4 semapv:UnspecifiedMatching -DOID:9971 hypervitaminosis D oboInOwl:hasDbXref UMLS_CUI:C1442839 semapv:UnspecifiedMatching +DOID:9971 hypervitaminosis D oboInOwl:hasDbXref UMLS:C1442839 semapv:UnspecifiedMatching DOID:9972 hypervitaminosis A oboInOwl:hasDbXref ICD10CM:E67.0 semapv:UnspecifiedMatching DOID:9972 hypervitaminosis A oboInOwl:hasDbXref ICD9CM:278.2 semapv:UnspecifiedMatching DOID:9972 hypervitaminosis A oboInOwl:hasDbXref MESH:D006986 semapv:UnspecifiedMatching -DOID:9972 hypervitaminosis A oboInOwl:hasDbXref UMLS_CUI:C0020579 semapv:UnspecifiedMatching +DOID:9972 hypervitaminosis A oboInOwl:hasDbXref UMLS:C0020579 semapv:UnspecifiedMatching DOID:9973 substance dependence oboInOwl:hasDbXref NCI:C35458 semapv:UnspecifiedMatching -DOID:9973 substance dependence oboInOwl:hasDbXref UMLS_CUI:C0439857 semapv:UnspecifiedMatching +DOID:9973 substance dependence oboInOwl:hasDbXref UMLS:C0439857 semapv:UnspecifiedMatching DOID:9974 drug dependence oboInOwl:hasDbXref ICD9CM:304.60 semapv:UnspecifiedMatching -DOID:9974 drug dependence oboInOwl:hasDbXref UMLS_CUI:C0029792 semapv:UnspecifiedMatching +DOID:9974 drug dependence oboInOwl:hasDbXref UMLS:C0029792 semapv:UnspecifiedMatching DOID:9975 cocaine dependence oboInOwl:hasDbXref ICD10CM:F14.2 semapv:UnspecifiedMatching DOID:9975 cocaine dependence oboInOwl:hasDbXref ICD9CM:304.2 semapv:UnspecifiedMatching DOID:9975 cocaine dependence oboInOwl:hasDbXref MESH:D019970 semapv:UnspecifiedMatching DOID:9975 cocaine dependence oboInOwl:hasDbXref NCI:C34492 semapv:UnspecifiedMatching -DOID:9975 cocaine dependence oboInOwl:hasDbXref UMLS_CUI:C0600427 semapv:UnspecifiedMatching +DOID:9975 cocaine dependence oboInOwl:hasDbXref UMLS:C0600427 semapv:UnspecifiedMatching DOID:9976 heroin dependence oboInOwl:hasDbXref MESH:D006556 semapv:UnspecifiedMatching DOID:9976 heroin dependence oboInOwl:hasDbXref NCI:C34694 semapv:UnspecifiedMatching -DOID:9976 heroin dependence oboInOwl:hasDbXref UMLS_CUI:C0019337 semapv:UnspecifiedMatching +DOID:9976 heroin dependence oboInOwl:hasDbXref UMLS:C0019337 semapv:UnspecifiedMatching DOID:9977 hallucinogen dependence oboInOwl:hasDbXref ICD10CM:F16.2 semapv:UnspecifiedMatching DOID:9977 hallucinogen dependence oboInOwl:hasDbXref ICD9CM:304.5 semapv:UnspecifiedMatching DOID:9977 hallucinogen dependence oboInOwl:hasDbXref NCI:C34657 semapv:UnspecifiedMatching -DOID:9977 hallucinogen dependence oboInOwl:hasDbXref UMLS_CUI:C0018528 semapv:UnspecifiedMatching +DOID:9977 hallucinogen dependence oboInOwl:hasDbXref UMLS:C0018528 semapv:UnspecifiedMatching DOID:9978 acute female pelvic peritonitis oboInOwl:hasDbXref ICD10CM:N73.3 semapv:UnspecifiedMatching DOID:9978 acute female pelvic peritonitis oboInOwl:hasDbXref ICD9CM:614.5 semapv:UnspecifiedMatching -DOID:9978 acute female pelvic peritonitis oboInOwl:hasDbXref UMLS_CUI:C0269032 semapv:UnspecifiedMatching +DOID:9978 acute female pelvic peritonitis oboInOwl:hasDbXref UMLS:C0269032 semapv:UnspecifiedMatching DOID:998 eosinophilia-myalgia syndrome oboInOwl:hasDbXref GARD:6345 semapv:UnspecifiedMatching DOID:998 eosinophilia-myalgia syndrome oboInOwl:hasDbXref ICD9CM:710.5 semapv:UnspecifiedMatching DOID:998 eosinophilia-myalgia syndrome oboInOwl:hasDbXref MESH:D016603 semapv:UnspecifiedMatching -DOID:998 eosinophilia-myalgia syndrome oboInOwl:hasDbXref UMLS_CUI:C0085179 semapv:UnspecifiedMatching +DOID:998 eosinophilia-myalgia syndrome oboInOwl:hasDbXref UMLS:C0085179 semapv:UnspecifiedMatching DOID:9986 orbit lymphoma oboInOwl:hasDbXref GARD:9719 semapv:UnspecifiedMatching DOID:9986 orbit lymphoma oboInOwl:hasDbXref MESH:C537131 semapv:UnspecifiedMatching DOID:9986 orbit lymphoma oboInOwl:hasDbXref NCI:C6244 semapv:UnspecifiedMatching -DOID:9986 orbit lymphoma oboInOwl:hasDbXref UMLS_CUI:C0271333 semapv:UnspecifiedMatching +DOID:9986 orbit lymphoma oboInOwl:hasDbXref UMLS:C0271333 semapv:UnspecifiedMatching DOID:9987 orbit sarcoma oboInOwl:hasDbXref NCI:C6095 semapv:UnspecifiedMatching -DOID:9987 orbit sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335131 semapv:UnspecifiedMatching +DOID:9987 orbit sarcoma oboInOwl:hasDbXref UMLS:C1335131 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref ICD10CM:A52.3 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref ICD9CM:094 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref NCI:C84935 semapv:UnspecifiedMatching -DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref UMLS_CUI:C0027927 semapv:UnspecifiedMatching +DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref UMLS:C0027927 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref GARD:2804 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref ICD10CM:D72.1 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref ICD9CM:288.3 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref MESH:D004802 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref ORDO:168956 semapv:UnspecifiedMatching -DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref UMLS_CUI:C0014457 semapv:UnspecifiedMatching +DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C0014457 semapv:UnspecifiedMatching DOID:9993 hypoglycemia oboInOwl:hasDbXref ICD10CM:E16.2 semapv:UnspecifiedMatching DOID:9993 hypoglycemia oboInOwl:hasDbXref ICD9CM:251.2 semapv:UnspecifiedMatching DOID:9993 hypoglycemia oboInOwl:hasDbXref MESH:D007003 semapv:UnspecifiedMatching DOID:9993 hypoglycemia oboInOwl:hasDbXref NCI:C3126 semapv:UnspecifiedMatching -DOID:9993 hypoglycemia oboInOwl:hasDbXref UMLS_CUI:C0020615 semapv:UnspecifiedMatching +DOID:9993 hypoglycemia oboInOwl:hasDbXref UMLS:C0020615 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref GARD:220 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref ICD10CM:O90.3 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref ICD9CM:674.5 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref NCI:C171602 semapv:UnspecifiedMatching -DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0877208 semapv:UnspecifiedMatching +DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref UMLS:C0877208 semapv:UnspecifiedMatching ExO:0000013 acid rain oboInOwl:hasDbXref ENVO:03000127 semapv:UnspecifiedMatching ExO:0000013 acid rain oboInOwl:hasDbXref OMIT:0016047 semapv:UnspecifiedMatching -SYMP:0000178 weight loss oboInOwl:hasDbXref ICD9CM_2005:783.21 semapv:UnspecifiedMatching -SYMP:0000178 weight loss oboInOwl:hasDbXref UMLS_CUI:C0043096 semapv:UnspecifiedMatching -SYMP:0000448 epistaxis oboInOwl:hasDbXref ICD9CM_2005:784.7 semapv:UnspecifiedMatching -SYMP:0000448 epistaxis oboInOwl:hasDbXref UMLS_CUI:C0014591 semapv:UnspecifiedMatching -SYMP:0000449 cardiogenic shock oboInOwl:hasDbXref ICD9CM_2005:785.51 semapv:UnspecifiedMatching -SYMP:0000449 cardiogenic shock oboInOwl:hasDbXref UMLS_CUI:C0036980 semapv:UnspecifiedMatching -SYMP:0000450 shock oboInOwl:hasDbXref ICD9CM_2005:785.5 semapv:UnspecifiedMatching -SYMP:0000450 shock oboInOwl:hasDbXref UMLS_CUI:C0159051 semapv:UnspecifiedMatching -SYMP:0000451 septic shock oboInOwl:hasDbXref ICD9CM_2005:785.52 semapv:UnspecifiedMatching -SYMP:0000451 septic shock oboInOwl:hasDbXref UMLS_CUI:C0036983 semapv:UnspecifiedMatching -SYMP:0000452 abnormal sputum oboInOwl:hasDbXref ICD9CM_2005:786.4 semapv:UnspecifiedMatching -SYMP:0000452 abnormal sputum oboInOwl:hasDbXref UMLS_CUI:C0159054 semapv:UnspecifiedMatching -SYMP:0000453 right upper quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.41 semapv:UnspecifiedMatching -SYMP:0000453 right upper quadrant abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375565 semapv:UnspecifiedMatching -SYMP:0000454 abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.4 semapv:UnspecifiedMatching -SYMP:0000454 abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.40 semapv:UnspecifiedMatching -SYMP:0000454 abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0159066 semapv:UnspecifiedMatching -SYMP:0000455 abnormal weight gain oboInOwl:hasDbXref ICD9CM_2005:783.1 semapv:UnspecifiedMatching -SYMP:0000455 abnormal weight gain oboInOwl:hasDbXref UMLS_CUI:C0332544 semapv:UnspecifiedMatching -SYMP:0000456 left upper quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.02 semapv:UnspecifiedMatching -SYMP:0000456 left upper quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0238552 semapv:UnspecifiedMatching -SYMP:0000457 abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.0 semapv:UnspecifiedMatching -SYMP:0000457 abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.00 semapv:UnspecifiedMatching -SYMP:0000457 abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0000737 semapv:UnspecifiedMatching -SYMP:0000458 nausea oboInOwl:hasDbXref ICD9CM_2005:787.02 semapv:UnspecifiedMatching -SYMP:0000458 nausea oboInOwl:hasDbXref UMLS_CUI:C0375548 semapv:UnspecifiedMatching -SYMP:0000459 digestive system symptom oboInOwl:hasDbXref ICD9CM_2005:787 semapv:UnspecifiedMatching -SYMP:0000459 digestive system symptom oboInOwl:hasDbXref UMLS_CUI:C0159058 semapv:UnspecifiedMatching -SYMP:0000460 hepatomegaly oboInOwl:hasDbXref ICD9CM_2005:789.1 semapv:UnspecifiedMatching -SYMP:0000460 hepatomegaly oboInOwl:hasDbXref UMLS_CUI:C0019209 semapv:UnspecifiedMatching -SYMP:0000461 abdominal symptom oboInOwl:hasDbXref ICD9CM_2005:789 semapv:UnspecifiedMatching -SYMP:0000461 abdominal symptom oboInOwl:hasDbXref ICD9CM_2005:789.9 semapv:UnspecifiedMatching -SYMP:0000461 abdominal symptom oboInOwl:hasDbXref UMLS_CUI:C0159065 semapv:UnspecifiedMatching -SYMP:0000463 lack of normal physiological development oboInOwl:hasDbXref ICD9CM_2005:783.40 semapv:UnspecifiedMatching -SYMP:0000463 lack of normal physiological development oboInOwl:hasDbXref UMLS_CUI:C0878706 semapv:UnspecifiedMatching -SYMP:0000464 lack of expected normal physiological development in childhood oboInOwl:hasDbXref ICD9CM_2005:783.4 semapv:UnspecifiedMatching -SYMP:0000464 lack of expected normal physiological development in childhood oboInOwl:hasDbXref UMLS_CUI:C0878753 semapv:UnspecifiedMatching -SYMP:0000465 failure to thrive oboInOwl:hasDbXref ICD9CM_2005:783.41 semapv:UnspecifiedMatching -SYMP:0000465 failure to thrive oboInOwl:hasDbXref UMLS_CUI:C0015544 semapv:UnspecifiedMatching -SYMP:0000466 delayed milestones oboInOwl:hasDbXref ICD9CM_2005:783.42 semapv:UnspecifiedMatching -SYMP:0000466 delayed milestones oboInOwl:hasDbXref UMLS_CUI:C0476241 semapv:UnspecifiedMatching -SYMP:0000467 right lower quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.43 semapv:UnspecifiedMatching -SYMP:0000467 right lower quadrant abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375567 semapv:UnspecifiedMatching -SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.47 semapv:UnspecifiedMatching -SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375571 semapv:UnspecifiedMatching -SYMP:0000469 epigastric abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.46 semapv:UnspecifiedMatching -SYMP:0000469 epigastric abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375570 semapv:UnspecifiedMatching -SYMP:0000470 left upper quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.42 semapv:UnspecifiedMatching -SYMP:0000470 left upper quadrant abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375566 semapv:UnspecifiedMatching -SYMP:0000471 multiple sites abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.49 semapv:UnspecifiedMatching -SYMP:0000471 multiple sites abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375572 semapv:UnspecifiedMatching -SYMP:0000472 early satiety oboInOwl:hasDbXref ICD9CM_2005:780.94 semapv:UnspecifiedMatching -SYMP:0000472 early satiety oboInOwl:hasDbXref UMLS_CUI:C0239233 semapv:UnspecifiedMatching -SYMP:0000473 nutrition, metabolism, and development symptom oboInOwl:hasDbXref ICD9CM_2005:783 semapv:UnspecifiedMatching -SYMP:0000473 nutrition, metabolism, and development symptom oboInOwl:hasDbXref UMLS_CUI:C0159041 semapv:UnspecifiedMatching -SYMP:0000475 underweight oboInOwl:hasDbXref ICD9CM_2005:783.22 semapv:UnspecifiedMatching -SYMP:0000475 underweight oboInOwl:hasDbXref UMLS_CUI:C0041667 semapv:UnspecifiedMatching -SYMP:0000477 epigastric abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.36 semapv:UnspecifiedMatching -SYMP:0000477 epigastric abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375562 semapv:UnspecifiedMatching -SYMP:0000478 abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching -SYMP:0000478 abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0476310 semapv:UnspecifiedMatching -SYMP:0000479 abnormality of gait oboInOwl:hasDbXref ICD9CM_2005:781.2 semapv:UnspecifiedMatching -SYMP:0000479 abnormality of gait oboInOwl:hasDbXref UMLS_CUI:C0575081 semapv:UnspecifiedMatching -SYMP:0000480 nervous system symptom oboInOwl:hasDbXref ICD9CM_2005:781 semapv:UnspecifiedMatching -SYMP:0000480 nervous system symptom oboInOwl:hasDbXref UMLS_CUI:C0159033 semapv:UnspecifiedMatching -SYMP:0000481 persistent vegetative state oboInOwl:hasDbXref ICD9CM_2005:780.03 semapv:UnspecifiedMatching -SYMP:0000481 persistent vegetative state oboInOwl:hasDbXref UMLS_CUI:C0242670 semapv:UnspecifiedMatching -SYMP:0000482 alteration of consciousness oboInOwl:hasDbXref ICD9CM_2005:780.0 semapv:UnspecifiedMatching -SYMP:0000482 alteration of consciousness oboInOwl:hasDbXref UMLS_CUI:C0234428 semapv:UnspecifiedMatching -SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.64 semapv:UnspecifiedMatching -SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238565 semapv:UnspecifiedMatching -SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.6 semapv:UnspecifiedMatching -SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.60 semapv:UnspecifiedMatching -SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0232498 semapv:UnspecifiedMatching -SYMP:0000485 dysuria oboInOwl:hasDbXref ICD9CM_2005:788.1 semapv:UnspecifiedMatching -SYMP:0000485 dysuria oboInOwl:hasDbXref UMLS_CUI:C0013428 semapv:UnspecifiedMatching -SYMP:0000486 urinary system symptom oboInOwl:hasDbXref ICD9CM_2005:788 semapv:UnspecifiedMatching -SYMP:0000486 urinary system symptom oboInOwl:hasDbXref UMLS_CUI:C0476293 semapv:UnspecifiedMatching -SYMP:0000487 rash oboInOwl:hasDbXref ICD9CM_2005:782.1 semapv:UnspecifiedMatching -SYMP:0000487 rash oboInOwl:hasDbXref UMLS_CUI:C0015230 semapv:UnspecifiedMatching -SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref ICD9CM_2005:782 semapv:UnspecifiedMatching -SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref ICD9CM_2005:782.9 semapv:UnspecifiedMatching -SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref UMLS_CUI:C0159037 semapv:UnspecifiedMatching -SYMP:0000489 abnormal bowel sound oboInOwl:hasDbXref ICD9CM_2005:787.5 semapv:UnspecifiedMatching -SYMP:0000489 abnormal bowel sound oboInOwl:hasDbXref UMLS_CUI:C0159060 semapv:UnspecifiedMatching -SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.69 semapv:UnspecifiedMatching -SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0375574 semapv:UnspecifiedMatching -SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref ICD9CM_2005:788.37 semapv:UnspecifiedMatching -SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref UMLS_CUI:C0375553 semapv:UnspecifiedMatching -SYMP:0000492 urinary incontinence oboInOwl:hasDbXref ICD9CM_2005:788.3 semapv:UnspecifiedMatching -SYMP:0000492 urinary incontinence oboInOwl:hasDbXref ICD9CM_2005:788.30 semapv:UnspecifiedMatching -SYMP:0000492 urinary incontinence oboInOwl:hasDbXref UMLS_CUI:C0042024 semapv:UnspecifiedMatching -SYMP:0000493 dysphagia oboInOwl:hasDbXref ICD9CM_2005:787.2 semapv:UnspecifiedMatching -SYMP:0000493 dysphagia oboInOwl:hasDbXref UMLS_CUI:C0011168 semapv:UnspecifiedMatching -SYMP:0000494 renal colic oboInOwl:hasDbXref ICD9CM_2005:788.0 semapv:UnspecifiedMatching -SYMP:0000494 renal colic oboInOwl:hasDbXref UMLS_CUI:C0152169 semapv:UnspecifiedMatching -SYMP:0000495 urethral discharge oboInOwl:hasDbXref ICD9CM_2005:788.7 semapv:UnspecifiedMatching -SYMP:0000495 urethral discharge oboInOwl:hasDbXref UMLS_CUI:C0152447 semapv:UnspecifiedMatching -SYMP:0000496 epigastric abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.66 semapv:UnspecifiedMatching -SYMP:0000496 epigastric abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0239280 semapv:UnspecifiedMatching -SYMP:0000497 periumbilic abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.65 semapv:UnspecifiedMatching -SYMP:0000497 periumbilic abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0375573 semapv:UnspecifiedMatching -SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.67 semapv:UnspecifiedMatching -SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0302540 semapv:UnspecifiedMatching -SYMP:0000499 right upper quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.61 semapv:UnspecifiedMatching -SYMP:0000499 right upper quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238571 semapv:UnspecifiedMatching -SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.63 semapv:UnspecifiedMatching -SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238570 semapv:UnspecifiedMatching -SYMP:0000501 left lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.34 semapv:UnspecifiedMatching -SYMP:0000501 left lower quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375560 semapv:UnspecifiedMatching -SYMP:0000502 mixed incontinence (female) (male) oboInOwl:hasDbXref ICD9CM_2005:788.33 semapv:UnspecifiedMatching -SYMP:0000502 mixed incontinence (female) (male) oboInOwl:hasDbXref UMLS_CUI:C0375550 semapv:UnspecifiedMatching -SYMP:0000503 adult failure to thrive oboInOwl:hasDbXref ICD9CM_2005:783.7 semapv:UnspecifiedMatching -SYMP:0000503 adult failure to thrive oboInOwl:hasDbXref UMLS_CUI:C1268580 semapv:UnspecifiedMatching -SYMP:0000504 headache oboInOwl:hasDbXref ICD9CM_2005:784.0 semapv:UnspecifiedMatching -SYMP:0000504 headache oboInOwl:hasDbXref UMLS_CUI:C0018681 semapv:UnspecifiedMatching -SYMP:0000505 throat pain oboInOwl:hasDbXref ICD9CM_2005:784.1 semapv:UnspecifiedMatching -SYMP:0000505 throat pain oboInOwl:hasDbXref UMLS_CUI:C0242429 semapv:UnspecifiedMatching -SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref ICD9CM_2005:784.8 semapv:UnspecifiedMatching -SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref UMLS_CUI:C0576995 semapv:UnspecifiedMatching -SYMP:0000507 head swelling oboInOwl:hasDbXref ICD9CM_2005:784.2 semapv:UnspecifiedMatching -SYMP:0000507 head swelling oboInOwl:hasDbXref UMLS_CUI:C0159045 semapv:UnspecifiedMatching -SYMP:0000508 aphasia oboInOwl:hasDbXref ICD9CM_2005:784.3 semapv:UnspecifiedMatching -SYMP:0000508 aphasia oboInOwl:hasDbXref UMLS_CUI:C0003537 semapv:UnspecifiedMatching -SYMP:0000509 flatulence oboInOwl:hasDbXref ICD9CM_2005:787.3 semapv:UnspecifiedMatching -SYMP:0000509 flatulence oboInOwl:hasDbXref UMLS_CUI:C0016205 semapv:UnspecifiedMatching -SYMP:0000510 pallor oboInOwl:hasDbXref ICD9CM_2005:782.61 semapv:UnspecifiedMatching -SYMP:0000510 pallor oboInOwl:hasDbXref UMLS_CUI:C0030232 semapv:UnspecifiedMatching -SYMP:0000511 flushing oboInOwl:hasDbXref ICD9CM_2005:782.62 semapv:UnspecifiedMatching -SYMP:0000511 flushing oboInOwl:hasDbXref UMLS_CUI:C0016382 semapv:UnspecifiedMatching -SYMP:0000512 male stress incontinence oboInOwl:hasDbXref ICD9CM_2005:788.32 semapv:UnspecifiedMatching -SYMP:0000512 male stress incontinence oboInOwl:hasDbXref UMLS_CUI:C0302505 semapv:UnspecifiedMatching -SYMP:0000513 stridor oboInOwl:hasDbXref ICD9CM_2005:786.1 semapv:UnspecifiedMatching -SYMP:0000513 stridor oboInOwl:hasDbXref UMLS_CUI:C0038450 semapv:UnspecifiedMatching -SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref ICD9CM_2005:786 semapv:UnspecifiedMatching -SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref UMLS_CUI:C0476271 semapv:UnspecifiedMatching -SYMP:0000515 hiccough oboInOwl:hasDbXref ICD9CM_2005:786.8 semapv:UnspecifiedMatching -SYMP:0000515 hiccough oboInOwl:hasDbXref UMLS_CUI:C0019521 semapv:UnspecifiedMatching -SYMP:0000516 lump in chest oboInOwl:hasDbXref ICD9CM_2005:786.6 semapv:UnspecifiedMatching -SYMP:0000516 lump in chest oboInOwl:hasDbXref UMLS_CUI:C0159055 semapv:UnspecifiedMatching -SYMP:0000517 hemoptysis oboInOwl:hasDbXref ICD9CM_2005:786.3 semapv:UnspecifiedMatching -SYMP:0000517 hemoptysis oboInOwl:hasDbXref UMLS_CUI:C0019079 semapv:UnspecifiedMatching -SYMP:0000518 generalized abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.07 semapv:UnspecifiedMatching -SYMP:0000518 generalized abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0344304 semapv:UnspecifiedMatching -SYMP:0000519 abnormal feces oboInOwl:hasDbXref ICD9CM_2005:787.7 semapv:UnspecifiedMatching -SYMP:0000519 abnormal feces oboInOwl:hasDbXref UMLS_CUI:C0162287 semapv:UnspecifiedMatching -SYMP:0000520 visible peristalsis oboInOwl:hasDbXref ICD9CM_2005:787.4 semapv:UnspecifiedMatching -SYMP:0000520 visible peristalsis oboInOwl:hasDbXref UMLS_CUI:C0159059 semapv:UnspecifiedMatching -SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref ICD9CM_2005:785.6 semapv:UnspecifiedMatching -SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref UMLS_CUI:C0497156 semapv:UnspecifiedMatching -SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref ICD9CM_2005:783.3 semapv:UnspecifiedMatching -SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref UMLS_CUI:C0699815 semapv:UnspecifiedMatching -SYMP:0000523 anorexia oboInOwl:hasDbXref ICD9CM_2005:783.0 semapv:UnspecifiedMatching -SYMP:0000523 anorexia oboInOwl:hasDbXref UMLS_CUI:C0003123 semapv:UnspecifiedMatching -SYMP:0000524 polyphagia oboInOwl:hasDbXref ICD9CM_2005:783.6 semapv:UnspecifiedMatching -SYMP:0000524 polyphagia oboInOwl:hasDbXref UMLS_CUI:C0020505 semapv:UnspecifiedMatching -SYMP:0000525 transient alteration of awareness oboInOwl:hasDbXref ICD9CM_2005:780.02 semapv:UnspecifiedMatching -SYMP:0000525 transient alteration of awareness oboInOwl:hasDbXref UMLS_CUI:C0221539 semapv:UnspecifiedMatching -SYMP:0000526 ascites oboInOwl:hasDbXref ICD9CM_2005:789.5 semapv:UnspecifiedMatching -SYMP:0000526 ascites oboInOwl:hasDbXref UMLS_CUI:C0003962 semapv:UnspecifiedMatching -SYMP:0000527 undiagnosed cardiac murmur oboInOwl:hasDbXref ICD9CM_2005:785.2 semapv:UnspecifiedMatching -SYMP:0000527 undiagnosed cardiac murmur oboInOwl:hasDbXref UMLS_CUI:C0375546 semapv:UnspecifiedMatching -SYMP:0000528 cardiovascular system symptom oboInOwl:hasDbXref ICD9CM_2005:785 semapv:UnspecifiedMatching -SYMP:0000528 cardiovascular system symptom oboInOwl:hasDbXref UMLS_CUI:C0159049 semapv:UnspecifiedMatching -SYMP:0000529 tachycardia oboInOwl:hasDbXref ICD9CM_2005:785.0 semapv:UnspecifiedMatching -SYMP:0000529 tachycardia oboInOwl:hasDbXref UMLS_CUI:C0039231 semapv:UnspecifiedMatching -SYMP:0000530 palpitation oboInOwl:hasDbXref ICD9CM_2005:785.1 semapv:UnspecifiedMatching -SYMP:0000530 palpitation oboInOwl:hasDbXref UMLS_CUI:C0030252 semapv:UnspecifiedMatching -SYMP:0000531 splenomegaly oboInOwl:hasDbXref ICD9CM_2005:789.2 semapv:UnspecifiedMatching -SYMP:0000531 splenomegaly oboInOwl:hasDbXref UMLS_CUI:C0038002 semapv:UnspecifiedMatching -SYMP:0000532 urge incontinence oboInOwl:hasDbXref ICD9CM_2005:788.31 semapv:UnspecifiedMatching -SYMP:0000532 urge incontinence oboInOwl:hasDbXref UMLS_CUI:C0150045 semapv:UnspecifiedMatching -SYMP:0000533 post-void dribbling oboInOwl:hasDbXref ICD9CM_2005:788.35 semapv:UnspecifiedMatching -SYMP:0000533 post-void dribbling oboInOwl:hasDbXref UMLS_CUI:C0375552 semapv:UnspecifiedMatching -SYMP:0000534 spontaneous ecchymoses oboInOwl:hasDbXref ICD9CM_2005:782.7 semapv:UnspecifiedMatching -SYMP:0000534 spontaneous ecchymoses oboInOwl:hasDbXref UMLS_CUI:C0159039 semapv:UnspecifiedMatching -SYMP:0000535 change in skin texture oboInOwl:hasDbXref ICD9CM_2005:782.8 semapv:UnspecifiedMatching -SYMP:0000535 change in skin texture oboInOwl:hasDbXref UMLS_CUI:C0159040 semapv:UnspecifiedMatching -SYMP:0000536 disturbance of skin sensation oboInOwl:hasDbXref ICD9CM_2005:782.0 semapv:UnspecifiedMatching -SYMP:0000536 disturbance of skin sensation oboInOwl:hasDbXref UMLS_CUI:C0012766 semapv:UnspecifiedMatching -SYMP:0000537 cyanosis oboInOwl:hasDbXref ICD9CM_2005:782.5 semapv:UnspecifiedMatching -SYMP:0000537 cyanosis oboInOwl:hasDbXref UMLS_CUI:C0010520 semapv:UnspecifiedMatching -SYMP:0000538 edema oboInOwl:hasDbXref ICD9CM_2005:782.3 semapv:UnspecifiedMatching -SYMP:0000538 edema oboInOwl:hasDbXref UMLS_CUI:C0013604 semapv:UnspecifiedMatching -SYMP:0000539 jaundice oboInOwl:hasDbXref ICD9CM_2005:782.4 semapv:UnspecifiedMatching -SYMP:0000539 jaundice oboInOwl:hasDbXref UMLS_CUI:C0476232 semapv:UnspecifiedMatching -SYMP:0000540 painful respiration oboInOwl:hasDbXref ICD9CM_2005:786.52 semapv:UnspecifiedMatching -SYMP:0000540 painful respiration oboInOwl:hasDbXref UMLS_CUI:C0423729 semapv:UnspecifiedMatching -SYMP:0000541 periumbilic abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.35 semapv:UnspecifiedMatching -SYMP:0000541 periumbilic abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375561 semapv:UnspecifiedMatching -SYMP:0000542 epigastric abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.06 semapv:UnspecifiedMatching -SYMP:0000542 epigastric abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0232493 semapv:UnspecifiedMatching -SYMP:0000543 memory loss oboInOwl:hasDbXref ICD9CM_2005:780.93 semapv:UnspecifiedMatching -SYMP:0000543 memory loss oboInOwl:hasDbXref UMLS_CUI:C0751295 semapv:UnspecifiedMatching -SYMP:0000544 transient paralysis of limb oboInOwl:hasDbXref ICD9CM_2005:781.4 semapv:UnspecifiedMatching -SYMP:0000544 transient paralysis of limb oboInOwl:hasDbXref UMLS_CUI:C0159034 semapv:UnspecifiedMatching -SYMP:0000545 multiple sites abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.39 semapv:UnspecifiedMatching -SYMP:0000545 multiple sites abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375564 semapv:UnspecifiedMatching -SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.03 semapv:UnspecifiedMatching -SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0740603 semapv:UnspecifiedMatching -SYMP:0000547 right upper quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.01 semapv:UnspecifiedMatching -SYMP:0000547 right upper quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0235299 semapv:UnspecifiedMatching -SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.33 semapv:UnspecifiedMatching -SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375559 semapv:UnspecifiedMatching -SYMP:0000549 generalized abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.37 semapv:UnspecifiedMatching -SYMP:0000549 generalized abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375563 semapv:UnspecifiedMatching -SYMP:0000550 clubbing of fingers oboInOwl:hasDbXref ICD9CM_2005:781.5 semapv:UnspecifiedMatching -SYMP:0000550 clubbing of fingers oboInOwl:hasDbXref UMLS_CUI:C0009080 semapv:UnspecifiedMatching -SYMP:0000551 disturbances of sensation of smell and taste oboInOwl:hasDbXref ICD9CM_2005:781.1 semapv:UnspecifiedMatching -SYMP:0000551 disturbances of sensation of smell and taste oboInOwl:hasDbXref UMLS_CUI:C0495689 semapv:UnspecifiedMatching -SYMP:0000552 meningismus oboInOwl:hasDbXref ICD9CM_2005:781.6 semapv:UnspecifiedMatching -SYMP:0000552 meningismus oboInOwl:hasDbXref UMLS_CUI:C0025287 semapv:UnspecifiedMatching -SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref ICD9CM_2005:781.8 semapv:UnspecifiedMatching -SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref UMLS_CUI:C0840927 semapv:UnspecifiedMatching -SYMP:0000554 left lower quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.44 semapv:UnspecifiedMatching -SYMP:0000554 left lower quadrant abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375568 semapv:UnspecifiedMatching -SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.32 semapv:UnspecifiedMatching -SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375558 semapv:UnspecifiedMatching -SYMP:0000556 localized superficial lump oboInOwl:hasDbXref ICD9CM_2005:782.2 semapv:UnspecifiedMatching -SYMP:0000556 localized superficial lump oboInOwl:hasDbXref UMLS_CUI:C0476228 semapv:UnspecifiedMatching -SYMP:0000557 urinary retention oboInOwl:hasDbXref ICD9CM_2005:788.2 semapv:UnspecifiedMatching -SYMP:0000557 urinary retention oboInOwl:hasDbXref ICD9CM_2005:788.20 semapv:UnspecifiedMatching -SYMP:0000557 urinary retention oboInOwl:hasDbXref UMLS_CUI:C0080274 semapv:UnspecifiedMatching -SYMP:0000558 incomplete bladder emptying oboInOwl:hasDbXref ICD9CM_2005:788.21 semapv:UnspecifiedMatching -SYMP:0000558 incomplete bladder emptying oboInOwl:hasDbXref UMLS_CUI:C0344365 semapv:UnspecifiedMatching -SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM_2005:784.4 semapv:UnspecifiedMatching -SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM_2005:784.40 semapv:UnspecifiedMatching -SYMP:0000559 voice disturbance oboInOwl:hasDbXref UMLS_CUI:C0042940 semapv:UnspecifiedMatching -SYMP:0000560 polydipsia oboInOwl:hasDbXref ICD9CM_2005:783.5 semapv:UnspecifiedMatching -SYMP:0000560 polydipsia oboInOwl:hasDbXref UMLS_CUI:C0085602 semapv:UnspecifiedMatching -SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.09 semapv:UnspecifiedMatching -SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0375555 semapv:UnspecifiedMatching -SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.31 semapv:UnspecifiedMatching -SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375557 semapv:UnspecifiedMatching -SYMP:0000563 urinary frequency oboInOwl:hasDbXref ICD9CM_2005:788.41 semapv:UnspecifiedMatching -SYMP:0000563 urinary frequency oboInOwl:hasDbXref UMLS_CUI:C0042023 semapv:UnspecifiedMatching -SYMP:0000564 nocturia oboInOwl:hasDbXref ICD9CM_2005:788.43 semapv:UnspecifiedMatching -SYMP:0000564 nocturia oboInOwl:hasDbXref UMLS_CUI:C0028734 semapv:UnspecifiedMatching -SYMP:0000565 polyuria oboInOwl:hasDbXref ICD9CM_2005:788.42 semapv:UnspecifiedMatching -SYMP:0000565 polyuria oboInOwl:hasDbXref UMLS_CUI:C0032617 semapv:UnspecifiedMatching -SYMP:0000566 sleep disturbance oboInOwl:hasDbXref ICD9CM_2005:780.5 semapv:UnspecifiedMatching -SYMP:0000566 sleep disturbance oboInOwl:hasDbXref UMLS_CUI:C0037317 semapv:UnspecifiedMatching -SYMP:0000567 general symptom oboInOwl:hasDbXref ICD9CM_2005:780 semapv:UnspecifiedMatching -SYMP:0000567 general symptom oboInOwl:hasDbXref UMLS_CUI:C0159028 semapv:UnspecifiedMatching -SYMP:0000568 short stature oboInOwl:hasDbXref ICD9CM_2005:783.43 semapv:UnspecifiedMatching -SYMP:0000568 short stature oboInOwl:hasDbXref UMLS_CUI:C0349588 semapv:UnspecifiedMatching -SYMP:0000569 oliguria oboInOwl:hasDbXref ICD9CM_2005:788.5 semapv:UnspecifiedMatching -SYMP:0000569 oliguria oboInOwl:hasDbXref UMLS_CUI:C0028962 semapv:UnspecifiedMatching -SYMP:0000570 diarrhea oboInOwl:hasDbXref ICD9CM_2005:787.91 semapv:UnspecifiedMatching -SYMP:0000570 diarrhea oboInOwl:hasDbXref UMLS_CUI:C0011991 semapv:UnspecifiedMatching -SYMP:0000571 insomnia oboInOwl:hasDbXref ICD9CM_2005:780.52 semapv:UnspecifiedMatching -SYMP:0000571 insomnia oboInOwl:hasDbXref UMLS_CUI:C0029645 semapv:UnspecifiedMatching -SYMP:0000572 splitting of urinary stream oboInOwl:hasDbXref ICD9CM_2005:788.61 semapv:UnspecifiedMatching -SYMP:0000572 splitting of urinary stream oboInOwl:hasDbXref UMLS_CUI:C0232855 semapv:UnspecifiedMatching -SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref ICD9CM_2005:788.6 semapv:UnspecifiedMatching -SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref ICD9CM_2005:788.69 semapv:UnspecifiedMatching -SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref UMLS_CUI:C0159063 semapv:UnspecifiedMatching -SYMP:0000574 aphonia oboInOwl:hasDbXref ICD9CM_2005:784.41 semapv:UnspecifiedMatching -SYMP:0000574 aphonia oboInOwl:hasDbXref UMLS_CUI:C0003564 semapv:UnspecifiedMatching -SYMP:0000575 precordial pain oboInOwl:hasDbXref ICD9CM_2005:786.51 semapv:UnspecifiedMatching -SYMP:0000575 precordial pain oboInOwl:hasDbXref UMLS_CUI:C0232286 semapv:UnspecifiedMatching -SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM_2005:786.5 semapv:UnspecifiedMatching -SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM_2005:786.50 semapv:UnspecifiedMatching -SYMP:0000576 chest pain oboInOwl:hasDbXref UMLS_CUI:C0008031 semapv:UnspecifiedMatching -SYMP:0000577 fussy infant oboInOwl:hasDbXref ICD9CM_2005:780.91 semapv:UnspecifiedMatching -SYMP:0000577 fussy infant oboInOwl:hasDbXref UMLS_CUI:C1135254 semapv:UnspecifiedMatching -SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref ICD9CM_2005:788.34 semapv:UnspecifiedMatching -SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref UMLS_CUI:C0375551 semapv:UnspecifiedMatching -SYMP:0000579 insomnia with sleep apnea oboInOwl:hasDbXref ICD9CM_2005:780.51 semapv:UnspecifiedMatching -SYMP:0000579 insomnia with sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0159030 semapv:UnspecifiedMatching -SYMP:0000580 dysfunctions associated with sleep stages oboInOwl:hasDbXref ICD9CM_2005:780.56 semapv:UnspecifiedMatching -SYMP:0000580 dysfunctions associated with sleep stages oboInOwl:hasDbXref UMLS_CUI:C0013373 semapv:UnspecifiedMatching -SYMP:0000581 sleep apnea oboInOwl:hasDbXref ICD9CM_2005:780.57 semapv:UnspecifiedMatching -SYMP:0000581 sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0375544 semapv:UnspecifiedMatching -SYMP:0000582 hypersomnia oboInOwl:hasDbXref ICD9CM_2005:780.54 semapv:UnspecifiedMatching -SYMP:0000582 hypersomnia oboInOwl:hasDbXref UMLS_CUI:C0029637 semapv:UnspecifiedMatching -SYMP:0000583 hypersomnia with sleep apnea oboInOwl:hasDbXref ICD9CM_2005:780.53 semapv:UnspecifiedMatching -SYMP:0000583 hypersomnia with sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0020530 semapv:UnspecifiedMatching -SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref ICD9CM_2005:780.55 semapv:UnspecifiedMatching -SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref UMLS_CUI:C0159031 semapv:UnspecifiedMatching -SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref ICD9CM_2005:780.58 semapv:UnspecifiedMatching -SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref UMLS_CUI:C1455873 semapv:UnspecifiedMatching -SYMP:0000586 overflow incontinence oboInOwl:hasDbXref ICD9CM_2005:788.38 semapv:UnspecifiedMatching -SYMP:0000586 overflow incontinence oboInOwl:hasDbXref UMLS_CUI:C0312413 semapv:UnspecifiedMatching -SYMP:0000587 abnormal chest sound oboInOwl:hasDbXref ICD9CM_2005:786.7 semapv:UnspecifiedMatching -SYMP:0000587 abnormal chest sound oboInOwl:hasDbXref UMLS_CUI:C0159056 semapv:UnspecifiedMatching -SYMP:0000588 extravasation of urine oboInOwl:hasDbXref ICD9CM_2005:788.8 semapv:UnspecifiedMatching -SYMP:0000588 extravasation of urine oboInOwl:hasDbXref UMLS_CUI:C0152245 semapv:UnspecifiedMatching -SYMP:0000589 slowing of urinary stream oboInOwl:hasDbXref ICD9CM_2005:788.62 semapv:UnspecifiedMatching -SYMP:0000589 slowing of urinary stream oboInOwl:hasDbXref UMLS_CUI:C0232854 semapv:UnspecifiedMatching -SYMP:0000590 urinary urgency oboInOwl:hasDbXref ICD9CM_2005:788.63 semapv:UnspecifiedMatching -SYMP:0000590 urinary urgency oboInOwl:hasDbXref UMLS_CUI:C0085606 semapv:UnspecifiedMatching -SYMP:0000591 left upper quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.62 semapv:UnspecifiedMatching -SYMP:0000591 left upper quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238566 semapv:UnspecifiedMatching -SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref ICD9CM_2005:780.92 semapv:UnspecifiedMatching -SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref UMLS_CUI:C0497134 semapv:UnspecifiedMatching -SYMP:0000593 gangrene oboInOwl:hasDbXref ICD9CM_2005:785.4 semapv:UnspecifiedMatching -SYMP:0000593 gangrene oboInOwl:hasDbXref UMLS_CUI:C0017086 semapv:UnspecifiedMatching -SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref ICD9CM_2005:781.0 semapv:UnspecifiedMatching -SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref UMLS_CUI:C0392702 semapv:UnspecifiedMatching -SYMP:0000595 febrile convulsion oboInOwl:hasDbXref ICD9CM_2005:780.31 semapv:UnspecifiedMatching -SYMP:0000595 febrile convulsion oboInOwl:hasDbXref UMLS_CUI:C0009952 semapv:UnspecifiedMatching -SYMP:0000596 convulsion oboInOwl:hasDbXref ICD9CM_2005:780.3 semapv:UnspecifiedMatching -SYMP:0000596 convulsion oboInOwl:hasDbXref UMLS_CUI:C0009951 semapv:UnspecifiedMatching -SYMP:0000597 head and neck symptom oboInOwl:hasDbXref ICD9CM_2005:784 semapv:UnspecifiedMatching -SYMP:0000597 head and neck symptom oboInOwl:hasDbXref UMLS_CUI:C0476247 semapv:UnspecifiedMatching -SYMP:0000598 respiratory abnormality oboInOwl:hasDbXref ICD9CM_2005:786.0 semapv:UnspecifiedMatching -SYMP:0000598 respiratory abnormality oboInOwl:hasDbXref UMLS_CUI:C0159053 semapv:UnspecifiedMatching -SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref ICD9CM_2005:786.04 semapv:UnspecifiedMatching -SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref UMLS_CUI:C0008039 semapv:UnspecifiedMatching -SYMP:0000600 apnea oboInOwl:hasDbXref ICD9CM_2005:786.03 semapv:UnspecifiedMatching -SYMP:0000600 apnea oboInOwl:hasDbXref UMLS_CUI:C0003578 semapv:UnspecifiedMatching -SYMP:0000601 hyperventilation oboInOwl:hasDbXref ICD9CM_2005:786.01 semapv:UnspecifiedMatching -SYMP:0000601 hyperventilation oboInOwl:hasDbXref UMLS_CUI:C0020578 semapv:UnspecifiedMatching -SYMP:0000602 orthopnea oboInOwl:hasDbXref ICD9CM_2005:786.02 semapv:UnspecifiedMatching -SYMP:0000602 orthopnea oboInOwl:hasDbXref UMLS_CUI:C0085619 semapv:UnspecifiedMatching -SYMP:0000603 tachypnea oboInOwl:hasDbXref ICD9CM_2005:786.06 semapv:UnspecifiedMatching -SYMP:0000603 tachypnea oboInOwl:hasDbXref UMLS_CUI:C0231835 semapv:UnspecifiedMatching -SYMP:0000604 wheezing oboInOwl:hasDbXref ICD9CM_2005:786.07 semapv:UnspecifiedMatching -SYMP:0000604 wheezing oboInOwl:hasDbXref UMLS_CUI:C0043144 semapv:UnspecifiedMatching -SYMP:0000605 coma oboInOwl:hasDbXref ICD9CM_2005:780.01 semapv:UnspecifiedMatching -SYMP:0000605 coma oboInOwl:hasDbXref UMLS_CUI:C0009421 semapv:UnspecifiedMatching -SYMP:0000606 nocturnal enuresis oboInOwl:hasDbXref ICD9CM_2005:788.36 semapv:UnspecifiedMatching -SYMP:0000606 nocturnal enuresis oboInOwl:hasDbXref UMLS_CUI:C0270327 semapv:UnspecifiedMatching -SYMP:0000607 hallucination oboInOwl:hasDbXref ICD9CM_2005:780.1 semapv:UnspecifiedMatching -SYMP:0000607 hallucination oboInOwl:hasDbXref UMLS_CUI:C0018524 semapv:UnspecifiedMatching -SYMP:0000608 syncope and collapse oboInOwl:hasDbXref ICD9CM_2005:780.2 semapv:UnspecifiedMatching -SYMP:0000608 syncope and collapse oboInOwl:hasDbXref UMLS_CUI:C0039070 semapv:UnspecifiedMatching -SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref ICD9CM_2005:780.8 semapv:UnspecifiedMatching -SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref UMLS_CUI:C0476476 semapv:UnspecifiedMatching -SYMP:0000610 dizziness oboInOwl:hasDbXref ICD9CM_2005:780.4 semapv:UnspecifiedMatching -SYMP:0000610 dizziness oboInOwl:hasDbXref UMLS_CUI:C0476206 semapv:UnspecifiedMatching -SYMP:0000611 periumbilic abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.05 semapv:UnspecifiedMatching -SYMP:0000611 periumbilic abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0740594 semapv:UnspecifiedMatching -SYMP:0000612 periumbilic abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.45 semapv:UnspecifiedMatching -SYMP:0000612 periumbilic abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375569 semapv:UnspecifiedMatching -SYMP:0000613 fever oboInOwl:hasDbXref ICD9CM_2005:780.6 semapv:UnspecifiedMatching -SYMP:0000613 fever oboInOwl:hasDbXref UMLS_CUI:C0015967 semapv:UnspecifiedMatching -SYMP:0000614 cough oboInOwl:hasDbXref ICD9CM_2005:786.2 semapv:UnspecifiedMatching -SYMP:0000614 cough oboInOwl:hasDbXref UMLS_CUI:C0010200 semapv:UnspecifiedMatching -SYMP:0000616 loss of height oboInOwl:hasDbXref ICD9CM_2005:781.91 semapv:UnspecifiedMatching -SYMP:0000616 loss of height oboInOwl:hasDbXref UMLS_CUI:C0424641 semapv:UnspecifiedMatching -SYMP:0000617 torticollis oboInOwl:hasDbXref ICD9CM_2005:781.93 semapv:UnspecifiedMatching -SYMP:0000617 torticollis oboInOwl:hasDbXref UMLS_CUI:C0028856 semapv:UnspecifiedMatching -SYMP:0000618 abnormal posture oboInOwl:hasDbXref ICD9CM_2005:781.92 semapv:UnspecifiedMatching -SYMP:0000618 abnormal posture oboInOwl:hasDbXref UMLS_CUI:C0231471 semapv:UnspecifiedMatching -SYMP:0000619 tetany oboInOwl:hasDbXref ICD9CM_2005:781.7 semapv:UnspecifiedMatching -SYMP:0000619 tetany oboInOwl:hasDbXref UMLS_CUI:C0039621 semapv:UnspecifiedMatching -SYMP:0000620 left lower quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.04 semapv:UnspecifiedMatching -SYMP:0000620 left lower quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0238551 semapv:UnspecifiedMatching -SYMP:0000621 alexia oboInOwl:hasDbXref ICD9CM_2005:784.6 semapv:UnspecifiedMatching -SYMP:0000621 alexia oboInOwl:hasDbXref ICD9CM_2005:784.69 semapv:UnspecifiedMatching -SYMP:0000621 alexia oboInOwl:hasDbXref UMLS_CUI:C0478145 semapv:UnspecifiedMatching -SYMP:0000771 pelvic swelling oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching -SYMP:0000772 pelvic mass oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching -SYMP:0000773 pelvic lump oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching -SYMP:0000798 abdominal mass oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching -SYMP:0000798 abdominal mass oboInOwl:hasDbXref UMLS_CUI:C0476310 semapv:UnspecifiedMatching -SYMP:0000816 dysfunctions associated with arousal from sleep oboInOwl:hasDbXref ICD9CM_2005:307.47 semapv:UnspecifiedMatching -SYMP:0000818 localized superficial mass oboInOwl:hasDbXref ICD9CM_2005:782.2 semapv:UnspecifiedMatching -SYMP:0000819 localized superficial swelling oboInOwl:hasDbXref ICD9CM_2005:782.2 semapv:UnspecifiedMatching -SYMP:0000820 mass in chest oboInOwl:hasDbXref ICD9CM_2005:786.6 semapv:UnspecifiedMatching -SYMP:0000852 anuria oboInOwl:hasDbXref ICD9CM_2005:788.5 semapv:UnspecifiedMatching -SYMP:0000852 anuria oboInOwl:hasDbXref UMLS_CUI:C0028962 semapv:UnspecifiedMatching +SYMP:0000178 weight loss oboInOwl:hasDbXref ICD9CM:783.21 semapv:UnspecifiedMatching +SYMP:0000178 weight loss oboInOwl:hasDbXref UMLS:C0043096 semapv:UnspecifiedMatching +SYMP:0000448 epistaxis oboInOwl:hasDbXref ICD9CM:784.7 semapv:UnspecifiedMatching +SYMP:0000448 epistaxis oboInOwl:hasDbXref UMLS:C0014591 semapv:UnspecifiedMatching +SYMP:0000449 cardiogenic shock oboInOwl:hasDbXref ICD9CM:785.51 semapv:UnspecifiedMatching +SYMP:0000449 cardiogenic shock oboInOwl:hasDbXref UMLS:C0036980 semapv:UnspecifiedMatching +SYMP:0000450 shock oboInOwl:hasDbXref ICD9CM:785.5 semapv:UnspecifiedMatching +SYMP:0000450 shock oboInOwl:hasDbXref UMLS:C0159051 semapv:UnspecifiedMatching +SYMP:0000451 septic shock oboInOwl:hasDbXref ICD9CM:785.52 semapv:UnspecifiedMatching +SYMP:0000451 septic shock oboInOwl:hasDbXref UMLS:C0036983 semapv:UnspecifiedMatching +SYMP:0000452 abnormal sputum oboInOwl:hasDbXref ICD9CM:786.4 semapv:UnspecifiedMatching +SYMP:0000452 abnormal sputum oboInOwl:hasDbXref UMLS:C0159054 semapv:UnspecifiedMatching +SYMP:0000453 right upper quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.41 semapv:UnspecifiedMatching +SYMP:0000453 right upper quadrant abdominal rigidity oboInOwl:hasDbXref UMLS:C0375565 semapv:UnspecifiedMatching +SYMP:0000454 abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.4 semapv:UnspecifiedMatching +SYMP:0000454 abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.40 semapv:UnspecifiedMatching +SYMP:0000454 abdominal rigidity oboInOwl:hasDbXref UMLS:C0159066 semapv:UnspecifiedMatching +SYMP:0000455 abnormal weight gain oboInOwl:hasDbXref ICD9CM:783.1 semapv:UnspecifiedMatching +SYMP:0000455 abnormal weight gain oboInOwl:hasDbXref UMLS:C0332544 semapv:UnspecifiedMatching +SYMP:0000456 left upper quadrant abdominal pain oboInOwl:hasDbXref ICD9CM:789.02 semapv:UnspecifiedMatching +SYMP:0000456 left upper quadrant abdominal pain oboInOwl:hasDbXref UMLS:C0238552 semapv:UnspecifiedMatching +SYMP:0000457 abdominal pain oboInOwl:hasDbXref ICD9CM:789.0 semapv:UnspecifiedMatching +SYMP:0000457 abdominal pain oboInOwl:hasDbXref ICD9CM:789.00 semapv:UnspecifiedMatching +SYMP:0000457 abdominal pain oboInOwl:hasDbXref UMLS:C0000737 semapv:UnspecifiedMatching +SYMP:0000458 nausea oboInOwl:hasDbXref ICD9CM:787.02 semapv:UnspecifiedMatching +SYMP:0000458 nausea oboInOwl:hasDbXref UMLS:C0375548 semapv:UnspecifiedMatching +SYMP:0000459 digestive system symptom oboInOwl:hasDbXref ICD9CM:787 semapv:UnspecifiedMatching +SYMP:0000459 digestive system symptom oboInOwl:hasDbXref UMLS:C0159058 semapv:UnspecifiedMatching +SYMP:0000460 hepatomegaly oboInOwl:hasDbXref ICD9CM:789.1 semapv:UnspecifiedMatching +SYMP:0000460 hepatomegaly oboInOwl:hasDbXref UMLS:C0019209 semapv:UnspecifiedMatching +SYMP:0000461 abdominal symptom oboInOwl:hasDbXref ICD9CM:789 semapv:UnspecifiedMatching +SYMP:0000461 abdominal symptom oboInOwl:hasDbXref ICD9CM:789.9 semapv:UnspecifiedMatching +SYMP:0000461 abdominal symptom oboInOwl:hasDbXref UMLS:C0159065 semapv:UnspecifiedMatching +SYMP:0000463 lack of normal physiological development oboInOwl:hasDbXref ICD9CM:783.40 semapv:UnspecifiedMatching +SYMP:0000463 lack of normal physiological development oboInOwl:hasDbXref UMLS:C0878706 semapv:UnspecifiedMatching +SYMP:0000464 lack of expected normal physiological development in childhood oboInOwl:hasDbXref ICD9CM:783.4 semapv:UnspecifiedMatching +SYMP:0000464 lack of expected normal physiological development in childhood oboInOwl:hasDbXref UMLS:C0878753 semapv:UnspecifiedMatching +SYMP:0000465 failure to thrive oboInOwl:hasDbXref ICD9CM:783.41 semapv:UnspecifiedMatching +SYMP:0000465 failure to thrive oboInOwl:hasDbXref UMLS:C0015544 semapv:UnspecifiedMatching +SYMP:0000466 delayed milestones oboInOwl:hasDbXref ICD9CM:783.42 semapv:UnspecifiedMatching +SYMP:0000466 delayed milestones oboInOwl:hasDbXref UMLS:C0476241 semapv:UnspecifiedMatching +SYMP:0000467 right lower quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.43 semapv:UnspecifiedMatching +SYMP:0000467 right lower quadrant abdominal rigidity oboInOwl:hasDbXref UMLS:C0375567 semapv:UnspecifiedMatching +SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.47 semapv:UnspecifiedMatching +SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref UMLS:C0375571 semapv:UnspecifiedMatching +SYMP:0000469 epigastric abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.46 semapv:UnspecifiedMatching +SYMP:0000469 epigastric abdominal rigidity oboInOwl:hasDbXref UMLS:C0375570 semapv:UnspecifiedMatching +SYMP:0000470 left upper quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.42 semapv:UnspecifiedMatching +SYMP:0000470 left upper quadrant abdominal rigidity oboInOwl:hasDbXref UMLS:C0375566 semapv:UnspecifiedMatching +SYMP:0000471 multiple sites abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.49 semapv:UnspecifiedMatching +SYMP:0000471 multiple sites abdominal rigidity oboInOwl:hasDbXref UMLS:C0375572 semapv:UnspecifiedMatching +SYMP:0000472 early satiety oboInOwl:hasDbXref ICD9CM:780.94 semapv:UnspecifiedMatching +SYMP:0000472 early satiety oboInOwl:hasDbXref UMLS:C0239233 semapv:UnspecifiedMatching +SYMP:0000473 nutrition, metabolism, and development symptom oboInOwl:hasDbXref ICD9CM:783 semapv:UnspecifiedMatching +SYMP:0000473 nutrition, metabolism, and development symptom oboInOwl:hasDbXref UMLS:C0159041 semapv:UnspecifiedMatching +SYMP:0000475 underweight oboInOwl:hasDbXref ICD9CM:783.22 semapv:UnspecifiedMatching +SYMP:0000475 underweight oboInOwl:hasDbXref UMLS:C0041667 semapv:UnspecifiedMatching +SYMP:0000477 epigastric abdominal swelling oboInOwl:hasDbXref ICD9CM:789.36 semapv:UnspecifiedMatching +SYMP:0000477 epigastric abdominal swelling oboInOwl:hasDbXref UMLS:C0375562 semapv:UnspecifiedMatching +SYMP:0000478 abdominal swelling oboInOwl:hasDbXref ICD9CM:789.3 semapv:UnspecifiedMatching +SYMP:0000478 abdominal swelling oboInOwl:hasDbXref UMLS:C0476310 semapv:UnspecifiedMatching +SYMP:0000479 abnormality of gait oboInOwl:hasDbXref ICD9CM:781.2 semapv:UnspecifiedMatching +SYMP:0000479 abnormality of gait oboInOwl:hasDbXref UMLS:C0575081 semapv:UnspecifiedMatching +SYMP:0000480 nervous system symptom oboInOwl:hasDbXref ICD9CM:781 semapv:UnspecifiedMatching +SYMP:0000480 nervous system symptom oboInOwl:hasDbXref UMLS:C0159033 semapv:UnspecifiedMatching +SYMP:0000481 persistent vegetative state oboInOwl:hasDbXref ICD9CM:780.03 semapv:UnspecifiedMatching +SYMP:0000481 persistent vegetative state oboInOwl:hasDbXref UMLS:C0242670 semapv:UnspecifiedMatching +SYMP:0000482 alteration of consciousness oboInOwl:hasDbXref ICD9CM:780.0 semapv:UnspecifiedMatching +SYMP:0000482 alteration of consciousness oboInOwl:hasDbXref UMLS:C0234428 semapv:UnspecifiedMatching +SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.64 semapv:UnspecifiedMatching +SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS:C0238565 semapv:UnspecifiedMatching +SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.6 semapv:UnspecifiedMatching +SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.60 semapv:UnspecifiedMatching +SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref UMLS:C0232498 semapv:UnspecifiedMatching +SYMP:0000485 dysuria oboInOwl:hasDbXref ICD9CM:788.1 semapv:UnspecifiedMatching +SYMP:0000485 dysuria oboInOwl:hasDbXref UMLS:C0013428 semapv:UnspecifiedMatching +SYMP:0000486 urinary system symptom oboInOwl:hasDbXref ICD9CM:788 semapv:UnspecifiedMatching +SYMP:0000486 urinary system symptom oboInOwl:hasDbXref UMLS:C0476293 semapv:UnspecifiedMatching +SYMP:0000487 rash oboInOwl:hasDbXref ICD9CM:782.1 semapv:UnspecifiedMatching +SYMP:0000487 rash oboInOwl:hasDbXref UMLS:C0015230 semapv:UnspecifiedMatching +SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref ICD9CM:782 semapv:UnspecifiedMatching +SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref ICD9CM:782.9 semapv:UnspecifiedMatching +SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref UMLS:C0159037 semapv:UnspecifiedMatching +SYMP:0000489 abnormal bowel sound oboInOwl:hasDbXref ICD9CM:787.5 semapv:UnspecifiedMatching +SYMP:0000489 abnormal bowel sound oboInOwl:hasDbXref UMLS:C0159060 semapv:UnspecifiedMatching +SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.69 semapv:UnspecifiedMatching +SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref UMLS:C0375574 semapv:UnspecifiedMatching +SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref ICD9CM:788.37 semapv:UnspecifiedMatching +SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref UMLS:C0375553 semapv:UnspecifiedMatching +SYMP:0000492 urinary incontinence oboInOwl:hasDbXref ICD9CM:788.3 semapv:UnspecifiedMatching +SYMP:0000492 urinary incontinence oboInOwl:hasDbXref ICD9CM:788.30 semapv:UnspecifiedMatching +SYMP:0000492 urinary incontinence oboInOwl:hasDbXref UMLS:C0042024 semapv:UnspecifiedMatching +SYMP:0000493 dysphagia oboInOwl:hasDbXref ICD9CM:787.2 semapv:UnspecifiedMatching +SYMP:0000493 dysphagia oboInOwl:hasDbXref UMLS:C0011168 semapv:UnspecifiedMatching +SYMP:0000494 renal colic oboInOwl:hasDbXref ICD9CM:788.0 semapv:UnspecifiedMatching +SYMP:0000494 renal colic oboInOwl:hasDbXref UMLS:C0152169 semapv:UnspecifiedMatching +SYMP:0000495 urethral discharge oboInOwl:hasDbXref ICD9CM:788.7 semapv:UnspecifiedMatching +SYMP:0000495 urethral discharge oboInOwl:hasDbXref UMLS:C0152447 semapv:UnspecifiedMatching +SYMP:0000496 epigastric abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.66 semapv:UnspecifiedMatching +SYMP:0000496 epigastric abdominal tenderness oboInOwl:hasDbXref UMLS:C0239280 semapv:UnspecifiedMatching +SYMP:0000497 periumbilic abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.65 semapv:UnspecifiedMatching +SYMP:0000497 periumbilic abdominal tenderness oboInOwl:hasDbXref UMLS:C0375573 semapv:UnspecifiedMatching +SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.67 semapv:UnspecifiedMatching +SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref UMLS:C0302540 semapv:UnspecifiedMatching +SYMP:0000499 right upper quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.61 semapv:UnspecifiedMatching +SYMP:0000499 right upper quadrant abdominal tenderness oboInOwl:hasDbXref UMLS:C0238571 semapv:UnspecifiedMatching +SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.63 semapv:UnspecifiedMatching +SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS:C0238570 semapv:UnspecifiedMatching +SYMP:0000501 left lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM:789.34 semapv:UnspecifiedMatching +SYMP:0000501 left lower quadrant abdominal swelling oboInOwl:hasDbXref UMLS:C0375560 semapv:UnspecifiedMatching +SYMP:0000502 mixed incontinence (female) (male) oboInOwl:hasDbXref ICD9CM:788.33 semapv:UnspecifiedMatching +SYMP:0000502 mixed incontinence (female) (male) oboInOwl:hasDbXref UMLS:C0375550 semapv:UnspecifiedMatching +SYMP:0000503 adult failure to thrive oboInOwl:hasDbXref ICD9CM:783.7 semapv:UnspecifiedMatching +SYMP:0000503 adult failure to thrive oboInOwl:hasDbXref UMLS:C1268580 semapv:UnspecifiedMatching +SYMP:0000504 headache oboInOwl:hasDbXref ICD9CM:784.0 semapv:UnspecifiedMatching +SYMP:0000504 headache oboInOwl:hasDbXref UMLS:C0018681 semapv:UnspecifiedMatching +SYMP:0000505 throat pain oboInOwl:hasDbXref ICD9CM:784.1 semapv:UnspecifiedMatching +SYMP:0000505 throat pain oboInOwl:hasDbXref UMLS:C0242429 semapv:UnspecifiedMatching +SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref ICD9CM:784.8 semapv:UnspecifiedMatching +SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref UMLS:C0576995 semapv:UnspecifiedMatching +SYMP:0000507 head swelling oboInOwl:hasDbXref ICD9CM:784.2 semapv:UnspecifiedMatching +SYMP:0000507 head swelling oboInOwl:hasDbXref UMLS:C0159045 semapv:UnspecifiedMatching +SYMP:0000508 aphasia oboInOwl:hasDbXref ICD9CM:784.3 semapv:UnspecifiedMatching +SYMP:0000508 aphasia oboInOwl:hasDbXref UMLS:C0003537 semapv:UnspecifiedMatching +SYMP:0000509 flatulence oboInOwl:hasDbXref ICD9CM:787.3 semapv:UnspecifiedMatching +SYMP:0000509 flatulence oboInOwl:hasDbXref UMLS:C0016205 semapv:UnspecifiedMatching +SYMP:0000510 pallor oboInOwl:hasDbXref ICD9CM:782.61 semapv:UnspecifiedMatching +SYMP:0000510 pallor oboInOwl:hasDbXref UMLS:C0030232 semapv:UnspecifiedMatching +SYMP:0000511 flushing oboInOwl:hasDbXref ICD9CM:782.62 semapv:UnspecifiedMatching +SYMP:0000511 flushing oboInOwl:hasDbXref UMLS:C0016382 semapv:UnspecifiedMatching +SYMP:0000512 male stress incontinence oboInOwl:hasDbXref ICD9CM:788.32 semapv:UnspecifiedMatching +SYMP:0000512 male stress incontinence oboInOwl:hasDbXref UMLS:C0302505 semapv:UnspecifiedMatching +SYMP:0000513 stridor oboInOwl:hasDbXref ICD9CM:786.1 semapv:UnspecifiedMatching +SYMP:0000513 stridor oboInOwl:hasDbXref UMLS:C0038450 semapv:UnspecifiedMatching +SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref ICD9CM:786 semapv:UnspecifiedMatching +SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref UMLS:C0476271 semapv:UnspecifiedMatching +SYMP:0000515 hiccough oboInOwl:hasDbXref ICD9CM:786.8 semapv:UnspecifiedMatching +SYMP:0000515 hiccough oboInOwl:hasDbXref UMLS:C0019521 semapv:UnspecifiedMatching +SYMP:0000516 lump in chest oboInOwl:hasDbXref ICD9CM:786.6 semapv:UnspecifiedMatching +SYMP:0000516 lump in chest oboInOwl:hasDbXref UMLS:C0159055 semapv:UnspecifiedMatching +SYMP:0000517 hemoptysis oboInOwl:hasDbXref ICD9CM:786.3 semapv:UnspecifiedMatching +SYMP:0000517 hemoptysis oboInOwl:hasDbXref UMLS:C0019079 semapv:UnspecifiedMatching +SYMP:0000518 generalized abdominal pain oboInOwl:hasDbXref ICD9CM:789.07 semapv:UnspecifiedMatching +SYMP:0000518 generalized abdominal pain oboInOwl:hasDbXref UMLS:C0344304 semapv:UnspecifiedMatching +SYMP:0000519 abnormal feces oboInOwl:hasDbXref ICD9CM:787.7 semapv:UnspecifiedMatching +SYMP:0000519 abnormal feces oboInOwl:hasDbXref UMLS:C0162287 semapv:UnspecifiedMatching +SYMP:0000520 visible peristalsis oboInOwl:hasDbXref ICD9CM:787.4 semapv:UnspecifiedMatching +SYMP:0000520 visible peristalsis oboInOwl:hasDbXref UMLS:C0159059 semapv:UnspecifiedMatching +SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref ICD9CM:785.6 semapv:UnspecifiedMatching +SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref UMLS:C0497156 semapv:UnspecifiedMatching +SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref ICD9CM:783.3 semapv:UnspecifiedMatching +SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref UMLS:C0699815 semapv:UnspecifiedMatching +SYMP:0000523 anorexia oboInOwl:hasDbXref ICD9CM:783.0 semapv:UnspecifiedMatching +SYMP:0000523 anorexia oboInOwl:hasDbXref UMLS:C0003123 semapv:UnspecifiedMatching +SYMP:0000524 polyphagia oboInOwl:hasDbXref ICD9CM:783.6 semapv:UnspecifiedMatching +SYMP:0000524 polyphagia oboInOwl:hasDbXref UMLS:C0020505 semapv:UnspecifiedMatching +SYMP:0000525 transient alteration of awareness oboInOwl:hasDbXref ICD9CM:780.02 semapv:UnspecifiedMatching +SYMP:0000525 transient alteration of awareness oboInOwl:hasDbXref UMLS:C0221539 semapv:UnspecifiedMatching +SYMP:0000526 ascites oboInOwl:hasDbXref ICD9CM:789.5 semapv:UnspecifiedMatching +SYMP:0000526 ascites oboInOwl:hasDbXref UMLS:C0003962 semapv:UnspecifiedMatching +SYMP:0000527 undiagnosed cardiac murmur oboInOwl:hasDbXref ICD9CM:785.2 semapv:UnspecifiedMatching +SYMP:0000527 undiagnosed cardiac murmur oboInOwl:hasDbXref UMLS:C0375546 semapv:UnspecifiedMatching +SYMP:0000528 cardiovascular system symptom oboInOwl:hasDbXref ICD9CM:785 semapv:UnspecifiedMatching +SYMP:0000528 cardiovascular system symptom oboInOwl:hasDbXref UMLS:C0159049 semapv:UnspecifiedMatching +SYMP:0000529 tachycardia oboInOwl:hasDbXref ICD9CM:785.0 semapv:UnspecifiedMatching +SYMP:0000529 tachycardia oboInOwl:hasDbXref UMLS:C0039231 semapv:UnspecifiedMatching +SYMP:0000530 palpitation oboInOwl:hasDbXref ICD9CM:785.1 semapv:UnspecifiedMatching +SYMP:0000530 palpitation oboInOwl:hasDbXref UMLS:C0030252 semapv:UnspecifiedMatching +SYMP:0000531 splenomegaly oboInOwl:hasDbXref ICD9CM:789.2 semapv:UnspecifiedMatching +SYMP:0000531 splenomegaly oboInOwl:hasDbXref UMLS:C0038002 semapv:UnspecifiedMatching +SYMP:0000532 urge incontinence oboInOwl:hasDbXref ICD9CM:788.31 semapv:UnspecifiedMatching +SYMP:0000532 urge incontinence oboInOwl:hasDbXref UMLS:C0150045 semapv:UnspecifiedMatching +SYMP:0000533 post-void dribbling oboInOwl:hasDbXref ICD9CM:788.35 semapv:UnspecifiedMatching +SYMP:0000533 post-void dribbling oboInOwl:hasDbXref UMLS:C0375552 semapv:UnspecifiedMatching +SYMP:0000534 spontaneous ecchymoses oboInOwl:hasDbXref ICD9CM:782.7 semapv:UnspecifiedMatching +SYMP:0000534 spontaneous ecchymoses oboInOwl:hasDbXref UMLS:C0159039 semapv:UnspecifiedMatching +SYMP:0000535 change in skin texture oboInOwl:hasDbXref ICD9CM:782.8 semapv:UnspecifiedMatching +SYMP:0000535 change in skin texture oboInOwl:hasDbXref UMLS:C0159040 semapv:UnspecifiedMatching +SYMP:0000536 disturbance of skin sensation oboInOwl:hasDbXref ICD9CM:782.0 semapv:UnspecifiedMatching +SYMP:0000536 disturbance of skin sensation oboInOwl:hasDbXref UMLS:C0012766 semapv:UnspecifiedMatching +SYMP:0000537 cyanosis oboInOwl:hasDbXref ICD9CM:782.5 semapv:UnspecifiedMatching +SYMP:0000537 cyanosis oboInOwl:hasDbXref UMLS:C0010520 semapv:UnspecifiedMatching +SYMP:0000538 edema oboInOwl:hasDbXref ICD9CM:782.3 semapv:UnspecifiedMatching +SYMP:0000538 edema oboInOwl:hasDbXref UMLS:C0013604 semapv:UnspecifiedMatching +SYMP:0000539 jaundice oboInOwl:hasDbXref ICD9CM:782.4 semapv:UnspecifiedMatching +SYMP:0000539 jaundice oboInOwl:hasDbXref UMLS:C0476232 semapv:UnspecifiedMatching +SYMP:0000540 painful respiration oboInOwl:hasDbXref ICD9CM:786.52 semapv:UnspecifiedMatching +SYMP:0000540 painful respiration oboInOwl:hasDbXref UMLS:C0423729 semapv:UnspecifiedMatching +SYMP:0000541 periumbilic abdominal swelling oboInOwl:hasDbXref ICD9CM:789.35 semapv:UnspecifiedMatching +SYMP:0000541 periumbilic abdominal swelling oboInOwl:hasDbXref UMLS:C0375561 semapv:UnspecifiedMatching +SYMP:0000542 epigastric abdominal pain oboInOwl:hasDbXref ICD9CM:789.06 semapv:UnspecifiedMatching +SYMP:0000542 epigastric abdominal pain oboInOwl:hasDbXref UMLS:C0232493 semapv:UnspecifiedMatching +SYMP:0000543 memory loss oboInOwl:hasDbXref ICD9CM:780.93 semapv:UnspecifiedMatching +SYMP:0000543 memory loss oboInOwl:hasDbXref UMLS:C0751295 semapv:UnspecifiedMatching +SYMP:0000544 transient paralysis of limb oboInOwl:hasDbXref ICD9CM:781.4 semapv:UnspecifiedMatching +SYMP:0000544 transient paralysis of limb oboInOwl:hasDbXref UMLS:C0159034 semapv:UnspecifiedMatching +SYMP:0000545 multiple sites abdominal swelling oboInOwl:hasDbXref ICD9CM:789.39 semapv:UnspecifiedMatching +SYMP:0000545 multiple sites abdominal swelling oboInOwl:hasDbXref UMLS:C0375564 semapv:UnspecifiedMatching +SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref ICD9CM:789.03 semapv:UnspecifiedMatching +SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref UMLS:C0740603 semapv:UnspecifiedMatching +SYMP:0000547 right upper quadrant abdominal pain oboInOwl:hasDbXref ICD9CM:789.01 semapv:UnspecifiedMatching +SYMP:0000547 right upper quadrant abdominal pain oboInOwl:hasDbXref UMLS:C0235299 semapv:UnspecifiedMatching +SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM:789.33 semapv:UnspecifiedMatching +SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref UMLS:C0375559 semapv:UnspecifiedMatching +SYMP:0000549 generalized abdominal swelling oboInOwl:hasDbXref ICD9CM:789.37 semapv:UnspecifiedMatching +SYMP:0000549 generalized abdominal swelling oboInOwl:hasDbXref UMLS:C0375563 semapv:UnspecifiedMatching +SYMP:0000550 clubbing of fingers oboInOwl:hasDbXref ICD9CM:781.5 semapv:UnspecifiedMatching +SYMP:0000550 clubbing of fingers oboInOwl:hasDbXref UMLS:C0009080 semapv:UnspecifiedMatching +SYMP:0000551 disturbances of sensation of smell and taste oboInOwl:hasDbXref ICD9CM:781.1 semapv:UnspecifiedMatching +SYMP:0000551 disturbances of sensation of smell and taste oboInOwl:hasDbXref UMLS:C0495689 semapv:UnspecifiedMatching +SYMP:0000552 meningismus oboInOwl:hasDbXref ICD9CM:781.6 semapv:UnspecifiedMatching +SYMP:0000552 meningismus oboInOwl:hasDbXref UMLS:C0025287 semapv:UnspecifiedMatching +SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref ICD9CM:781.8 semapv:UnspecifiedMatching +SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref UMLS:C0840927 semapv:UnspecifiedMatching +SYMP:0000554 left lower quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.44 semapv:UnspecifiedMatching +SYMP:0000554 left lower quadrant abdominal rigidity oboInOwl:hasDbXref UMLS:C0375568 semapv:UnspecifiedMatching +SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM:789.32 semapv:UnspecifiedMatching +SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref UMLS:C0375558 semapv:UnspecifiedMatching +SYMP:0000556 localized superficial lump oboInOwl:hasDbXref ICD9CM:782.2 semapv:UnspecifiedMatching +SYMP:0000556 localized superficial lump oboInOwl:hasDbXref UMLS:C0476228 semapv:UnspecifiedMatching +SYMP:0000557 urinary retention oboInOwl:hasDbXref ICD9CM:788.2 semapv:UnspecifiedMatching +SYMP:0000557 urinary retention oboInOwl:hasDbXref ICD9CM:788.20 semapv:UnspecifiedMatching +SYMP:0000557 urinary retention oboInOwl:hasDbXref UMLS:C0080274 semapv:UnspecifiedMatching +SYMP:0000558 incomplete bladder emptying oboInOwl:hasDbXref ICD9CM:788.21 semapv:UnspecifiedMatching +SYMP:0000558 incomplete bladder emptying oboInOwl:hasDbXref UMLS:C0344365 semapv:UnspecifiedMatching +SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM:784.4 semapv:UnspecifiedMatching +SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM:784.40 semapv:UnspecifiedMatching +SYMP:0000559 voice disturbance oboInOwl:hasDbXref UMLS:C0042940 semapv:UnspecifiedMatching +SYMP:0000560 polydipsia oboInOwl:hasDbXref ICD9CM:783.5 semapv:UnspecifiedMatching +SYMP:0000560 polydipsia oboInOwl:hasDbXref UMLS:C0085602 semapv:UnspecifiedMatching +SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref ICD9CM:789.09 semapv:UnspecifiedMatching +SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref UMLS:C0375555 semapv:UnspecifiedMatching +SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM:789.31 semapv:UnspecifiedMatching +SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref UMLS:C0375557 semapv:UnspecifiedMatching +SYMP:0000563 urinary frequency oboInOwl:hasDbXref ICD9CM:788.41 semapv:UnspecifiedMatching +SYMP:0000563 urinary frequency oboInOwl:hasDbXref UMLS:C0042023 semapv:UnspecifiedMatching +SYMP:0000564 nocturia oboInOwl:hasDbXref ICD9CM:788.43 semapv:UnspecifiedMatching +SYMP:0000564 nocturia oboInOwl:hasDbXref UMLS:C0028734 semapv:UnspecifiedMatching +SYMP:0000565 polyuria oboInOwl:hasDbXref ICD9CM:788.42 semapv:UnspecifiedMatching +SYMP:0000565 polyuria oboInOwl:hasDbXref UMLS:C0032617 semapv:UnspecifiedMatching +SYMP:0000566 sleep disturbance oboInOwl:hasDbXref ICD9CM:780.5 semapv:UnspecifiedMatching +SYMP:0000566 sleep disturbance oboInOwl:hasDbXref UMLS:C0037317 semapv:UnspecifiedMatching +SYMP:0000567 general symptom oboInOwl:hasDbXref ICD9CM:780 semapv:UnspecifiedMatching +SYMP:0000567 general symptom oboInOwl:hasDbXref UMLS:C0159028 semapv:UnspecifiedMatching +SYMP:0000568 short stature oboInOwl:hasDbXref ICD9CM:783.43 semapv:UnspecifiedMatching +SYMP:0000568 short stature oboInOwl:hasDbXref UMLS:C0349588 semapv:UnspecifiedMatching +SYMP:0000569 oliguria oboInOwl:hasDbXref ICD9CM:788.5 semapv:UnspecifiedMatching +SYMP:0000569 oliguria oboInOwl:hasDbXref UMLS:C0028962 semapv:UnspecifiedMatching +SYMP:0000570 diarrhea oboInOwl:hasDbXref ICD9CM:787.91 semapv:UnspecifiedMatching +SYMP:0000570 diarrhea oboInOwl:hasDbXref UMLS:C0011991 semapv:UnspecifiedMatching +SYMP:0000571 insomnia oboInOwl:hasDbXref ICD9CM:780.52 semapv:UnspecifiedMatching +SYMP:0000571 insomnia oboInOwl:hasDbXref UMLS:C0029645 semapv:UnspecifiedMatching +SYMP:0000572 splitting of urinary stream oboInOwl:hasDbXref ICD9CM:788.61 semapv:UnspecifiedMatching +SYMP:0000572 splitting of urinary stream oboInOwl:hasDbXref UMLS:C0232855 semapv:UnspecifiedMatching +SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref ICD9CM:788.6 semapv:UnspecifiedMatching +SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref ICD9CM:788.69 semapv:UnspecifiedMatching +SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref UMLS:C0159063 semapv:UnspecifiedMatching +SYMP:0000574 aphonia oboInOwl:hasDbXref ICD9CM:784.41 semapv:UnspecifiedMatching +SYMP:0000574 aphonia oboInOwl:hasDbXref UMLS:C0003564 semapv:UnspecifiedMatching +SYMP:0000575 precordial pain oboInOwl:hasDbXref ICD9CM:786.51 semapv:UnspecifiedMatching +SYMP:0000575 precordial pain oboInOwl:hasDbXref UMLS:C0232286 semapv:UnspecifiedMatching +SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM:786.5 semapv:UnspecifiedMatching +SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM:786.50 semapv:UnspecifiedMatching +SYMP:0000576 chest pain oboInOwl:hasDbXref UMLS:C0008031 semapv:UnspecifiedMatching +SYMP:0000577 fussy infant oboInOwl:hasDbXref ICD9CM:780.91 semapv:UnspecifiedMatching +SYMP:0000577 fussy infant oboInOwl:hasDbXref UMLS:C1135254 semapv:UnspecifiedMatching +SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref ICD9CM:788.34 semapv:UnspecifiedMatching +SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref UMLS:C0375551 semapv:UnspecifiedMatching +SYMP:0000579 insomnia with sleep apnea oboInOwl:hasDbXref ICD9CM:780.51 semapv:UnspecifiedMatching +SYMP:0000579 insomnia with sleep apnea oboInOwl:hasDbXref UMLS:C0159030 semapv:UnspecifiedMatching +SYMP:0000580 dysfunctions associated with sleep stages oboInOwl:hasDbXref ICD9CM:780.56 semapv:UnspecifiedMatching +SYMP:0000580 dysfunctions associated with sleep stages oboInOwl:hasDbXref UMLS:C0013373 semapv:UnspecifiedMatching +SYMP:0000581 sleep apnea oboInOwl:hasDbXref ICD9CM:780.57 semapv:UnspecifiedMatching +SYMP:0000581 sleep apnea oboInOwl:hasDbXref UMLS:C0375544 semapv:UnspecifiedMatching +SYMP:0000582 hypersomnia oboInOwl:hasDbXref ICD9CM:780.54 semapv:UnspecifiedMatching +SYMP:0000582 hypersomnia oboInOwl:hasDbXref UMLS:C0029637 semapv:UnspecifiedMatching +SYMP:0000583 hypersomnia with sleep apnea oboInOwl:hasDbXref ICD9CM:780.53 semapv:UnspecifiedMatching +SYMP:0000583 hypersomnia with sleep apnea oboInOwl:hasDbXref UMLS:C0020530 semapv:UnspecifiedMatching +SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref ICD9CM:780.55 semapv:UnspecifiedMatching +SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref UMLS:C0159031 semapv:UnspecifiedMatching +SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref ICD9CM:780.58 semapv:UnspecifiedMatching +SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref UMLS:C1455873 semapv:UnspecifiedMatching +SYMP:0000586 overflow incontinence oboInOwl:hasDbXref ICD9CM:788.38 semapv:UnspecifiedMatching +SYMP:0000586 overflow incontinence oboInOwl:hasDbXref UMLS:C0312413 semapv:UnspecifiedMatching +SYMP:0000587 abnormal chest sound oboInOwl:hasDbXref ICD9CM:786.7 semapv:UnspecifiedMatching +SYMP:0000587 abnormal chest sound oboInOwl:hasDbXref UMLS:C0159056 semapv:UnspecifiedMatching +SYMP:0000588 extravasation of urine oboInOwl:hasDbXref ICD9CM:788.8 semapv:UnspecifiedMatching +SYMP:0000588 extravasation of urine oboInOwl:hasDbXref UMLS:C0152245 semapv:UnspecifiedMatching +SYMP:0000589 slowing of urinary stream oboInOwl:hasDbXref ICD9CM:788.62 semapv:UnspecifiedMatching +SYMP:0000589 slowing of urinary stream oboInOwl:hasDbXref UMLS:C0232854 semapv:UnspecifiedMatching +SYMP:0000590 urinary urgency oboInOwl:hasDbXref ICD9CM:788.63 semapv:UnspecifiedMatching +SYMP:0000590 urinary urgency oboInOwl:hasDbXref UMLS:C0085606 semapv:UnspecifiedMatching +SYMP:0000591 left upper quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM:789.62 semapv:UnspecifiedMatching +SYMP:0000591 left upper quadrant abdominal tenderness oboInOwl:hasDbXref UMLS:C0238566 semapv:UnspecifiedMatching +SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref ICD9CM:780.92 semapv:UnspecifiedMatching +SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref UMLS:C0497134 semapv:UnspecifiedMatching +SYMP:0000593 gangrene oboInOwl:hasDbXref ICD9CM:785.4 semapv:UnspecifiedMatching +SYMP:0000593 gangrene oboInOwl:hasDbXref UMLS:C0017086 semapv:UnspecifiedMatching +SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref ICD9CM:781.0 semapv:UnspecifiedMatching +SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref UMLS:C0392702 semapv:UnspecifiedMatching +SYMP:0000595 febrile convulsion oboInOwl:hasDbXref ICD9CM:780.31 semapv:UnspecifiedMatching +SYMP:0000595 febrile convulsion oboInOwl:hasDbXref UMLS:C0009952 semapv:UnspecifiedMatching +SYMP:0000596 convulsion oboInOwl:hasDbXref ICD9CM:780.3 semapv:UnspecifiedMatching +SYMP:0000596 convulsion oboInOwl:hasDbXref UMLS:C0009951 semapv:UnspecifiedMatching +SYMP:0000597 head and neck symptom oboInOwl:hasDbXref ICD9CM:784 semapv:UnspecifiedMatching +SYMP:0000597 head and neck symptom oboInOwl:hasDbXref UMLS:C0476247 semapv:UnspecifiedMatching +SYMP:0000598 respiratory abnormality oboInOwl:hasDbXref ICD9CM:786.0 semapv:UnspecifiedMatching +SYMP:0000598 respiratory abnormality oboInOwl:hasDbXref UMLS:C0159053 semapv:UnspecifiedMatching +SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref ICD9CM:786.04 semapv:UnspecifiedMatching +SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref UMLS:C0008039 semapv:UnspecifiedMatching +SYMP:0000600 apnea oboInOwl:hasDbXref ICD9CM:786.03 semapv:UnspecifiedMatching +SYMP:0000600 apnea oboInOwl:hasDbXref UMLS:C0003578 semapv:UnspecifiedMatching +SYMP:0000601 hyperventilation oboInOwl:hasDbXref ICD9CM:786.01 semapv:UnspecifiedMatching +SYMP:0000601 hyperventilation oboInOwl:hasDbXref UMLS:C0020578 semapv:UnspecifiedMatching +SYMP:0000602 orthopnea oboInOwl:hasDbXref ICD9CM:786.02 semapv:UnspecifiedMatching +SYMP:0000602 orthopnea oboInOwl:hasDbXref UMLS:C0085619 semapv:UnspecifiedMatching +SYMP:0000603 tachypnea oboInOwl:hasDbXref ICD9CM:786.06 semapv:UnspecifiedMatching +SYMP:0000603 tachypnea oboInOwl:hasDbXref UMLS:C0231835 semapv:UnspecifiedMatching +SYMP:0000604 wheezing oboInOwl:hasDbXref ICD9CM:786.07 semapv:UnspecifiedMatching +SYMP:0000604 wheezing oboInOwl:hasDbXref UMLS:C0043144 semapv:UnspecifiedMatching +SYMP:0000605 coma oboInOwl:hasDbXref ICD9CM:780.01 semapv:UnspecifiedMatching +SYMP:0000605 coma oboInOwl:hasDbXref UMLS:C0009421 semapv:UnspecifiedMatching +SYMP:0000606 nocturnal enuresis oboInOwl:hasDbXref ICD9CM:788.36 semapv:UnspecifiedMatching +SYMP:0000606 nocturnal enuresis oboInOwl:hasDbXref UMLS:C0270327 semapv:UnspecifiedMatching +SYMP:0000607 hallucination oboInOwl:hasDbXref ICD9CM:780.1 semapv:UnspecifiedMatching +SYMP:0000607 hallucination oboInOwl:hasDbXref UMLS:C0018524 semapv:UnspecifiedMatching +SYMP:0000608 syncope and collapse oboInOwl:hasDbXref ICD9CM:780.2 semapv:UnspecifiedMatching +SYMP:0000608 syncope and collapse oboInOwl:hasDbXref UMLS:C0039070 semapv:UnspecifiedMatching +SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref ICD9CM:780.8 semapv:UnspecifiedMatching +SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref UMLS:C0476476 semapv:UnspecifiedMatching +SYMP:0000610 dizziness oboInOwl:hasDbXref ICD9CM:780.4 semapv:UnspecifiedMatching +SYMP:0000610 dizziness oboInOwl:hasDbXref UMLS:C0476206 semapv:UnspecifiedMatching +SYMP:0000611 periumbilic abdominal pain oboInOwl:hasDbXref ICD9CM:789.05 semapv:UnspecifiedMatching +SYMP:0000611 periumbilic abdominal pain oboInOwl:hasDbXref UMLS:C0740594 semapv:UnspecifiedMatching +SYMP:0000612 periumbilic abdominal rigidity oboInOwl:hasDbXref ICD9CM:789.45 semapv:UnspecifiedMatching +SYMP:0000612 periumbilic abdominal rigidity oboInOwl:hasDbXref UMLS:C0375569 semapv:UnspecifiedMatching +SYMP:0000613 fever oboInOwl:hasDbXref ICD9CM:780.6 semapv:UnspecifiedMatching +SYMP:0000613 fever oboInOwl:hasDbXref UMLS:C0015967 semapv:UnspecifiedMatching +SYMP:0000614 cough oboInOwl:hasDbXref ICD9CM:786.2 semapv:UnspecifiedMatching +SYMP:0000614 cough oboInOwl:hasDbXref UMLS:C0010200 semapv:UnspecifiedMatching +SYMP:0000616 loss of height oboInOwl:hasDbXref ICD9CM:781.91 semapv:UnspecifiedMatching +SYMP:0000616 loss of height oboInOwl:hasDbXref UMLS:C0424641 semapv:UnspecifiedMatching +SYMP:0000617 torticollis oboInOwl:hasDbXref ICD9CM:781.93 semapv:UnspecifiedMatching +SYMP:0000617 torticollis oboInOwl:hasDbXref UMLS:C0028856 semapv:UnspecifiedMatching +SYMP:0000618 abnormal posture oboInOwl:hasDbXref ICD9CM:781.92 semapv:UnspecifiedMatching +SYMP:0000618 abnormal posture oboInOwl:hasDbXref UMLS:C0231471 semapv:UnspecifiedMatching +SYMP:0000619 tetany oboInOwl:hasDbXref ICD9CM:781.7 semapv:UnspecifiedMatching +SYMP:0000619 tetany oboInOwl:hasDbXref UMLS:C0039621 semapv:UnspecifiedMatching +SYMP:0000620 left lower quadrant abdominal pain oboInOwl:hasDbXref ICD9CM:789.04 semapv:UnspecifiedMatching +SYMP:0000620 left lower quadrant abdominal pain oboInOwl:hasDbXref UMLS:C0238551 semapv:UnspecifiedMatching +SYMP:0000621 alexia oboInOwl:hasDbXref ICD9CM:784.6 semapv:UnspecifiedMatching +SYMP:0000621 alexia oboInOwl:hasDbXref ICD9CM:784.69 semapv:UnspecifiedMatching +SYMP:0000621 alexia oboInOwl:hasDbXref UMLS:C0478145 semapv:UnspecifiedMatching +SYMP:0000771 pelvic swelling oboInOwl:hasDbXref ICD9CM:789.3 semapv:UnspecifiedMatching +SYMP:0000772 pelvic mass oboInOwl:hasDbXref ICD9CM:789.3 semapv:UnspecifiedMatching +SYMP:0000773 pelvic lump oboInOwl:hasDbXref ICD9CM:789.3 semapv:UnspecifiedMatching +SYMP:0000798 abdominal mass oboInOwl:hasDbXref ICD9CM:789.3 semapv:UnspecifiedMatching +SYMP:0000798 abdominal mass oboInOwl:hasDbXref UMLS:C0476310 semapv:UnspecifiedMatching +SYMP:0000816 dysfunctions associated with arousal from sleep oboInOwl:hasDbXref ICD9CM:307.47 semapv:UnspecifiedMatching +SYMP:0000818 localized superficial mass oboInOwl:hasDbXref ICD9CM:782.2 semapv:UnspecifiedMatching +SYMP:0000819 localized superficial swelling oboInOwl:hasDbXref ICD9CM:782.2 semapv:UnspecifiedMatching +SYMP:0000820 mass in chest oboInOwl:hasDbXref ICD9CM:786.6 semapv:UnspecifiedMatching +SYMP:0000852 anuria oboInOwl:hasDbXref ICD9CM:788.5 semapv:UnspecifiedMatching +SYMP:0000852 anuria oboInOwl:hasDbXref UMLS:C0028962 semapv:UnspecifiedMatching SYMP:0020061 outlet dysfunction constipation oboInOwl:hasDbXref ICD10CM:K59.02 semapv:UnspecifiedMatching SYMP:0020061 outlet dysfunction constipation oboInOwl:hasDbXref ICD9CM:564.02 semapv:UnspecifiedMatching -SYMP:0020061 outlet dysfunction constipation oboInOwl:hasDbXref UMLS_CUI:C0949134 semapv:UnspecifiedMatching +SYMP:0020061 outlet dysfunction constipation oboInOwl:hasDbXref UMLS:C0949134 semapv:UnspecifiedMatching diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index ab651f12..261dc51e 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -1,4 +1,7 @@ # curie_map: +# OMIM: https://omim.org/entry/ +# Orphanet: http://www.orpha.net/ORDO/Orphanet_ +# obo: http://purl.obolibrary.org/obo/ # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# @@ -6,6 +9,22384 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/b931bdac-c6ce-45aa-a2a8-7b5eaabab9e4 - +# mapping_set_id: https://w3id.org/sssom/mappings/338d1aff-858b-4c4f-87ca-c30702cbbb0c +subject_id subject_label predicate_id object_id mapping_justification +obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching +obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching +obo:GARD_10000 Spinocerebellar ataxia with axonal neuropathy type 1 skos:exactMatch Orphanet:94124 semapv:UnspecifiedMatching +obo:GARD_10000 Spinocerebellar ataxia with axonal neuropathy type 1 skos:narrowMatch OMIM:607250 semapv:UnspecifiedMatching +obo:GARD_10001 Congenital chloride diarrhea skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching +obo:GARD_10001 Congenital chloride diarrhea skos:narrowMatch OMIM:214700 semapv:UnspecifiedMatching +obo:GARD_10005 Familial progressive cardiac conduction defect skos:exactMatch Orphanet:871 semapv:UnspecifiedMatching +obo:GARD_10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:113900 semapv:UnspecifiedMatching +obo:GARD_10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:115080 semapv:UnspecifiedMatching +obo:GARD_10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:140400 semapv:UnspecifiedMatching +obo:GARD_10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:604559 semapv:UnspecifiedMatching +obo:GARD_10005 Familial progressive cardiac conduction defect skos:narrowMatch OMIM:612838 semapv:UnspecifiedMatching +obo:GARD_10007 Immunodeficiency 61 skos:broadMatch Orphanet:47 semapv:UnspecifiedMatching +obo:GARD_10007 Immunodeficiency 61 skos:exactMatch OMIM:300310 semapv:UnspecifiedMatching +obo:GARD_10009 Opsoclonus-myoclonus syndrome skos:exactMatch Orphanet:1183 semapv:UnspecifiedMatching +obo:GARD_10010 Self-improving dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79411 semapv:UnspecifiedMatching +obo:GARD_10010 Self-improving dystrophic epidermolysis bullosa skos:narrowMatch OMIM:131705 semapv:UnspecifiedMatching +obo:GARD_10011 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch Orphanet:83617 semapv:UnspecifiedMatching +obo:GARD_10011 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:narrowMatch OMIM:610483 semapv:UnspecifiedMatching +obo:GARD_10012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch Orphanet:85164 semapv:UnspecifiedMatching +obo:GARD_10012 Camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:narrowMatch OMIM:610474 semapv:UnspecifiedMatching +obo:GARD_10014 Pellagra skos:exactMatch Orphanet:97352 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:exactMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:136800 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:610158 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613267 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613268 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613269 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613270 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:613271 semapv:UnspecifiedMatching +obo:GARD_10018 Fuchs endothelial corneal dystrophy skos:narrowMatch OMIM:615523 semapv:UnspecifiedMatching +obo:GARD_1002 X-linked mandibulofacial dysostosis skos:exactMatch Orphanet:1131 semapv:UnspecifiedMatching +obo:GARD_1002 X-linked mandibulofacial dysostosis skos:narrowMatch OMIM:301950 semapv:UnspecifiedMatching +obo:GARD_10023 Bruck syndrome 2 skos:broadMatch Orphanet:2771 semapv:UnspecifiedMatching +obo:GARD_10023 Bruck syndrome 2 skos:exactMatch OMIM:609220 semapv:UnspecifiedMatching +obo:GARD_10024 Whistling face syndrome, recessive form skos:broadMatch Orphanet:2053 semapv:UnspecifiedMatching +obo:GARD_10024 Whistling face syndrome, recessive form skos:exactMatch OMIM:277720 semapv:UnspecifiedMatching +obo:GARD_10025 Anterior segment developmental anomaly skos:exactMatch Orphanet:88632 semapv:UnspecifiedMatching +obo:GARD_10025 Anterior segment developmental anomaly skos:narrowMatch OMIM:107250 semapv:UnspecifiedMatching +obo:GARD_10025 Anterior segment developmental anomaly skos:narrowMatch OMIM:617315 semapv:UnspecifiedMatching +obo:GARD_10025 Anterior segment developmental anomaly skos:narrowMatch OMIM:617319 semapv:UnspecifiedMatching +obo:GARD_10027 Campomelic dysplasia skos:exactMatch Orphanet:140 semapv:UnspecifiedMatching +obo:GARD_10027 Campomelic dysplasia skos:narrowMatch OMIM:114290 semapv:UnspecifiedMatching +obo:GARD_10027 Campomelic dysplasia skos:narrowMatch OMIM:211990 semapv:UnspecifiedMatching +obo:GARD_10027 Campomelic dysplasia skos:narrowMatch OMIM:602196 semapv:UnspecifiedMatching +obo:GARD_10028 Benign recurrent intrahepatic cholestasis type 1 skos:exactMatch Orphanet:99960 semapv:UnspecifiedMatching +obo:GARD_10028 Benign recurrent intrahepatic cholestasis type 1 skos:narrowMatch OMIM:243300 semapv:UnspecifiedMatching +obo:GARD_10029 Benign recurrent intrahepatic cholestasis type 2 skos:exactMatch Orphanet:99961 semapv:UnspecifiedMatching +obo:GARD_10029 Benign recurrent intrahepatic cholestasis type 2 skos:narrowMatch OMIM:605479 semapv:UnspecifiedMatching +obo:GARD_10033 Aneurysm, intracranial berry, 2 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_10033 Aneurysm, intracranial berry, 2 skos:exactMatch OMIM:608542 semapv:UnspecifiedMatching +obo:GARD_10034 Congenital trigeminal anesthesia skos:exactMatch Orphanet:231013 semapv:UnspecifiedMatching +obo:GARD_10034 Congenital trigeminal anesthesia skos:narrowMatch OMIM:122450 semapv:UnspecifiedMatching +obo:GARD_10037 Familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch Orphanet:85110 semapv:UnspecifiedMatching +obo:GARD_10037 Familial encephalopathy with neuroserpin inclusion bodies skos:narrowMatch OMIM:604218 semapv:UnspecifiedMatching +obo:GARD_10039 Hydroxykynureninuria skos:exactMatch Orphanet:79155 semapv:UnspecifiedMatching +obo:GARD_10039 Hydroxykynureninuria skos:narrowMatch OMIM:236800 semapv:UnspecifiedMatching +obo:GARD_10041 Burn-McKeown syndrome skos:exactMatch Orphanet:1200 semapv:UnspecifiedMatching +obo:GARD_10041 Burn-McKeown syndrome skos:narrowMatch OMIM:608572 semapv:UnspecifiedMatching +obo:GARD_10041 Burn-McKeown syndrome skos:narrowMatch OMIM:616462 semapv:UnspecifiedMatching +obo:GARD_10043 Usher syndrome, type if skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_10043 Usher syndrome, type if skos:exactMatch OMIM:602083 semapv:UnspecifiedMatching +obo:GARD_10045 Congenital bile acid synthesis defect type 2 skos:exactMatch Orphanet:79303 semapv:UnspecifiedMatching +obo:GARD_10045 Congenital bile acid synthesis defect type 2 skos:narrowMatch OMIM:235555 semapv:UnspecifiedMatching +obo:GARD_10046 Congenital bile acid synthesis defect type 4 skos:exactMatch Orphanet:79095 semapv:UnspecifiedMatching +obo:GARD_10046 Congenital bile acid synthesis defect type 4 skos:narrowMatch OMIM:214950 semapv:UnspecifiedMatching +obo:GARD_10046 Congenital bile acid synthesis defect type 4 skos:narrowMatch OMIM:614307 semapv:UnspecifiedMatching +obo:GARD_10047 Glutathione synthetase deficiency skos:exactMatch Orphanet:32 semapv:UnspecifiedMatching +obo:GARD_10047 Glutathione synthetase deficiency skos:narrowMatch OMIM:231900 semapv:UnspecifiedMatching +obo:GARD_10047 Glutathione synthetase deficiency skos:narrowMatch OMIM:266130 semapv:UnspecifiedMatching +obo:GARD_10048 Isolated congenital anonychia skos:exactMatch Orphanet:79143 semapv:UnspecifiedMatching +obo:GARD_10048 Isolated congenital anonychia skos:narrowMatch OMIM:107000 semapv:UnspecifiedMatching +obo:GARD_10048 Isolated congenital anonychia skos:narrowMatch OMIM:206800 semapv:UnspecifiedMatching +obo:GARD_10048 Isolated congenital anonychia skos:narrowMatch OMIM:614149 semapv:UnspecifiedMatching +obo:GARD_10049 Central areolar choroidal dystrophy skos:exactMatch Orphanet:75377 semapv:UnspecifiedMatching +obo:GARD_10049 Central areolar choroidal dystrophy skos:narrowMatch OMIM:215500 semapv:UnspecifiedMatching +obo:GARD_10049 Central areolar choroidal dystrophy skos:narrowMatch OMIM:613105 semapv:UnspecifiedMatching +obo:GARD_10049 Central areolar choroidal dystrophy skos:narrowMatch OMIM:613144 semapv:UnspecifiedMatching +obo:GARD_10050 Bietti crystalline dystrophy skos:exactMatch Orphanet:41751 semapv:UnspecifiedMatching +obo:GARD_10050 Bietti crystalline dystrophy skos:narrowMatch OMIM:210370 semapv:UnspecifiedMatching +obo:GARD_10051 Limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching +obo:GARD_10051 Limb-mammary syndrome skos:narrowMatch OMIM:603543 semapv:UnspecifiedMatching +obo:GARD_10053 Lipomyelomeningocele skos:exactMatch Orphanet:268835 semapv:UnspecifiedMatching +obo:GARD_10054 Eye defects-arachnodactyly-cardiopathy syndrome skos:exactMatch Orphanet:2725 semapv:UnspecifiedMatching +obo:GARD_10054 Eye defects-arachnodactyly-cardiopathy syndrome skos:narrowMatch OMIM:609465 semapv:UnspecifiedMatching +obo:GARD_10056 Mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch Orphanet:79113 semapv:UnspecifiedMatching +obo:GARD_10056 Mandibulofacial dysostosis-microcephaly syndrome skos:narrowMatch OMIM:610536 semapv:UnspecifiedMatching +obo:GARD_10057 Spondyloepimetaphyseal dysplasia, Geneviève type skos:exactMatch Orphanet:168454 semapv:UnspecifiedMatching +obo:GARD_10057 Spondyloepimetaphyseal dysplasia, Geneviève type skos:narrowMatch OMIM:610442 semapv:UnspecifiedMatching +obo:GARD_10061 Talo-patello-scaphoid osteolysis skos:exactMatch Orphanet:50809 semapv:UnspecifiedMatching +obo:GARD_10061 Talo-patello-scaphoid osteolysis skos:narrowMatch OMIM:609655 semapv:UnspecifiedMatching +obo:GARD_10066 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome skos:exactMatch Orphanet:498485 semapv:UnspecifiedMatching +obo:GARD_10066 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome skos:narrowMatch OMIM:608811 semapv:UnspecifiedMatching +obo:GARD_10070 Subependymoma skos:exactMatch Orphanet:251639 semapv:UnspecifiedMatching +obo:GARD_10072 Diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch Orphanet:85182 semapv:UnspecifiedMatching +obo:GARD_10072 Diaphyseal medullary stenosis-bone malignancy syndrome skos:narrowMatch OMIM:112250 semapv:UnspecifiedMatching +obo:GARD_10075 Dermatitis herpetiformis, familial skos:broadMatch Orphanet:1656 semapv:UnspecifiedMatching +obo:GARD_10075 Dermatitis herpetiformis, familial skos:exactMatch OMIM:601230 semapv:UnspecifiedMatching +obo:GARD_10081 White forelock with malformations skos:exactMatch Orphanet:2475 semapv:UnspecifiedMatching +obo:GARD_10081 White forelock with malformations skos:narrowMatch OMIM:277740 semapv:UnspecifiedMatching +obo:GARD_10082 Infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch Orphanet:85179 semapv:UnspecifiedMatching +obo:GARD_10082 Infantile osteopetrosis with neuroaxonal dysplasia skos:narrowMatch OMIM:259720 semapv:UnspecifiedMatching +obo:GARD_10082 Infantile osteopetrosis with neuroaxonal dysplasia skos:narrowMatch OMIM:600329 semapv:UnspecifiedMatching +obo:GARD_10083 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch Orphanet:79124 semapv:UnspecifiedMatching +obo:GARD_10083 Hepatic veno-occlusive disease-immunodeficiency syndrome skos:narrowMatch OMIM:235550 semapv:UnspecifiedMatching +obo:GARD_10084 Hemifacial myohyperplasia skos:exactMatch Orphanet:141148 semapv:UnspecifiedMatching +obo:GARD_10084 Hemifacial myohyperplasia skos:narrowMatch OMIM:606773 semapv:UnspecifiedMatching +obo:GARD_10088 Majeed syndrome skos:exactMatch Orphanet:77297 semapv:UnspecifiedMatching +obo:GARD_10088 Majeed syndrome skos:narrowMatch OMIM:609628 semapv:UnspecifiedMatching +obo:GARD_10089 TARP syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching +obo:GARD_10089 TARP syndrome skos:narrowMatch OMIM:311900 semapv:UnspecifiedMatching +obo:GARD_10090 Pierre robin sequence with pectus excavatum and rib and scapular anomalies skos:broadMatch Orphanet:140 semapv:UnspecifiedMatching +obo:GARD_10090 Pierre robin sequence with pectus excavatum and rib and scapular anomalies skos:exactMatch OMIM:602196 semapv:UnspecifiedMatching +obo:GARD_10091 Sotos syndrome skos:exactMatch Orphanet:821 semapv:UnspecifiedMatching +obo:GARD_10091 Sotos syndrome skos:narrowMatch OMIM:117550 semapv:UnspecifiedMatching +obo:GARD_10091 Sotos syndrome skos:narrowMatch OMIM:617169 semapv:UnspecifiedMatching +obo:GARD_10092 Hemochromatosis type 2 skos:exactMatch Orphanet:79230 semapv:UnspecifiedMatching +obo:GARD_10092 Hemochromatosis type 2 skos:narrowMatch OMIM:602390 semapv:UnspecifiedMatching +obo:GARD_10092 Hemochromatosis type 2 skos:narrowMatch OMIM:613313 semapv:UnspecifiedMatching +obo:GARD_10093 Hemochromatosis type 3 skos:exactMatch Orphanet:225123 semapv:UnspecifiedMatching +obo:GARD_10093 Hemochromatosis type 3 skos:narrowMatch OMIM:604250 semapv:UnspecifiedMatching +obo:GARD_10094 Hemochromatosis type 4 skos:exactMatch Orphanet:139491 semapv:UnspecifiedMatching +obo:GARD_10094 Hemochromatosis type 4 skos:narrowMatch OMIM:606069 semapv:UnspecifiedMatching +obo:GARD_10095 Migraine, familial hemiplegic, 2 skos:broadMatch Orphanet:569 semapv:UnspecifiedMatching +obo:GARD_10095 Migraine, familial hemiplegic, 2 skos:exactMatch OMIM:602481 semapv:UnspecifiedMatching +obo:GARD_10096 Hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 semapv:UnspecifiedMatching +obo:GARD_10096 Hereditary leiomyomatosis and renal cell cancer skos:narrowMatch OMIM:150800 semapv:UnspecifiedMatching +obo:GARD_10097 Leiomyoma of vulva and esophagus skos:broadMatch Orphanet:1018 semapv:UnspecifiedMatching +obo:GARD_10097 Leiomyoma of vulva and esophagus skos:exactMatch OMIM:150700 semapv:UnspecifiedMatching +obo:GARD_10099 Gamma-glutamyl transpeptidase deficiency skos:exactMatch Orphanet:33573 semapv:UnspecifiedMatching +obo:GARD_10099 Gamma-glutamyl transpeptidase deficiency skos:narrowMatch OMIM:231950 semapv:UnspecifiedMatching +obo:GARD_101 Centronuclear myopathy skos:exactMatch Orphanet:595 semapv:UnspecifiedMatching +obo:GARD_10101 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch Orphanet:168443 semapv:UnspecifiedMatching +obo:GARD_10101 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:narrowMatch OMIM:183849 semapv:UnspecifiedMatching +obo:GARD_10103 Elastosis perforans serpiginosa skos:exactMatch Orphanet:79148 semapv:UnspecifiedMatching +obo:GARD_10103 Elastosis perforans serpiginosa skos:narrowMatch OMIM:130100 semapv:UnspecifiedMatching +obo:GARD_10104 Pseudoxanthoma elasticum, forme fruste skos:broadMatch Orphanet:758 semapv:UnspecifiedMatching +obo:GARD_10104 Pseudoxanthoma elasticum, forme fruste skos:exactMatch OMIM:177850 semapv:UnspecifiedMatching +obo:GARD_10106 Osteopetrosis-hypogammaglobulinemia syndrome skos:exactMatch Orphanet:178389 semapv:UnspecifiedMatching +obo:GARD_10106 Osteopetrosis-hypogammaglobulinemia syndrome skos:narrowMatch OMIM:612301 semapv:UnspecifiedMatching +obo:GARD_10108 Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_10108 Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:608931 semapv:UnspecifiedMatching +obo:GARD_10109 Cornelia de Lange syndrome skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching +obo:GARD_10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:122470 semapv:UnspecifiedMatching +obo:GARD_10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:300590 semapv:UnspecifiedMatching +obo:GARD_10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:300882 semapv:UnspecifiedMatching +obo:GARD_10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:610759 semapv:UnspecifiedMatching +obo:GARD_10109 Cornelia de Lange syndrome skos:narrowMatch OMIM:614701 semapv:UnspecifiedMatching +obo:GARD_10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +obo:GARD_10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +obo:GARD_10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_10111 Nemaline myopathy 3 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_10111 Nemaline myopathy 3 skos:exactMatch OMIM:161800 semapv:UnspecifiedMatching +obo:GARD_10116 Ichthyosis-hypotrichosis syndrome skos:exactMatch Orphanet:91132 semapv:UnspecifiedMatching +obo:GARD_10116 Ichthyosis-hypotrichosis syndrome skos:narrowMatch OMIM:602400 semapv:UnspecifiedMatching +obo:GARD_10118 Oguchi disease skos:exactMatch Orphanet:75382 semapv:UnspecifiedMatching +obo:GARD_10118 Oguchi disease skos:narrowMatch OMIM:258100 semapv:UnspecifiedMatching +obo:GARD_10118 Oguchi disease skos:narrowMatch OMIM:613411 semapv:UnspecifiedMatching +obo:GARD_10119 Cone dystrophy, x-linked, with tapetal-like sheen skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +obo:GARD_10119 Cone dystrophy, x-linked, with tapetal-like sheen skos:exactMatch OMIM:304030 semapv:UnspecifiedMatching +obo:GARD_10120 Macular dystrophy, vitelliform, 1 skos:broadMatch Orphanet:99000 semapv:UnspecifiedMatching +obo:GARD_10120 Macular dystrophy, vitelliform, 1 skos:exactMatch OMIM:153840 semapv:UnspecifiedMatching +obo:GARD_10121 MORM syndrome skos:exactMatch Orphanet:75858 semapv:UnspecifiedMatching +obo:GARD_10121 MORM syndrome skos:narrowMatch OMIM:610156 semapv:UnspecifiedMatching +obo:GARD_10123 Progressive bifocal chorioretinal atrophy skos:exactMatch Orphanet:75373 semapv:UnspecifiedMatching +obo:GARD_10123 Progressive bifocal chorioretinal atrophy skos:narrowMatch OMIM:600790 semapv:UnspecifiedMatching +obo:GARD_10126 GM1 gangliosidosis type 2 skos:exactMatch Orphanet:79256 semapv:UnspecifiedMatching +obo:GARD_10126 GM1 gangliosidosis type 2 skos:narrowMatch OMIM:230600 semapv:UnspecifiedMatching +obo:GARD_10127 Leydig cell hypoplasia due to LHB deficiency skos:exactMatch Orphanet:325448 semapv:UnspecifiedMatching +obo:GARD_10127 Leydig cell hypoplasia due to LHB deficiency skos:narrowMatch OMIM:228300 semapv:UnspecifiedMatching +obo:GARD_10128 Isolated follicle stimulating hormone deficiency skos:exactMatch Orphanet:52901 semapv:UnspecifiedMatching +obo:GARD_10128 Isolated follicle stimulating hormone deficiency skos:narrowMatch OMIM:229070 semapv:UnspecifiedMatching +obo:GARD_10129 Isolated thyroid-stimulating hormone deficiency skos:exactMatch Orphanet:90674 semapv:UnspecifiedMatching +obo:GARD_10129 Isolated thyroid-stimulating hormone deficiency skos:narrowMatch OMIM:275100 semapv:UnspecifiedMatching +obo:GARD_10130 Monosomy 22q13.3 skos:exactMatch Orphanet:48652 semapv:UnspecifiedMatching +obo:GARD_10130 Monosomy 22q13.3 skos:narrowMatch OMIM:606232 semapv:UnspecifiedMatching +obo:GARD_10131 Hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch Orphanet:90117 semapv:UnspecifiedMatching +obo:GARD_10131 Hereditary motor and sensory neuropathy, Okinawa type skos:narrowMatch OMIM:604484 semapv:UnspecifiedMatching +obo:GARD_10132 Charcot-Marie-Tooth disease type 4G skos:exactMatch Orphanet:99953 semapv:UnspecifiedMatching +obo:GARD_10132 Charcot-Marie-Tooth disease type 4G skos:narrowMatch OMIM:605285 semapv:UnspecifiedMatching +obo:GARD_10133 Distal hereditary motor neuropathy, Jerash type skos:exactMatch Orphanet:139552 semapv:UnspecifiedMatching +obo:GARD_10133 Distal hereditary motor neuropathy, Jerash type skos:narrowMatch OMIM:605726 semapv:UnspecifiedMatching +obo:GARD_10138 Primary dystonia, DYT4 type skos:exactMatch Orphanet:98805 semapv:UnspecifiedMatching +obo:GARD_10138 Primary dystonia, DYT4 type skos:narrowMatch OMIM:128101 semapv:UnspecifiedMatching +obo:GARD_10140 Bohring-Opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching +obo:GARD_10140 Bohring-Opitz syndrome skos:narrowMatch OMIM:605039 semapv:UnspecifiedMatching +obo:GARD_10142 Osteogenesis imperfecta type 2 skos:exactMatch Orphanet:216804 semapv:UnspecifiedMatching +obo:GARD_10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:166210 semapv:UnspecifiedMatching +obo:GARD_10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +obo:GARD_10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +obo:GARD_10142 Osteogenesis imperfecta type 2 skos:narrowMatch OMIM:610915 semapv:UnspecifiedMatching +obo:GARD_10144 Dentinogenesis imperfecta type 3 skos:exactMatch Orphanet:166265 semapv:UnspecifiedMatching +obo:GARD_10144 Dentinogenesis imperfecta type 3 skos:narrowMatch OMIM:125500 semapv:UnspecifiedMatching +obo:GARD_10145 17p11.2 microduplication syndrome skos:exactMatch Orphanet:1713 semapv:UnspecifiedMatching +obo:GARD_10145 17p11.2 microduplication syndrome skos:narrowMatch OMIM:610883 semapv:UnspecifiedMatching +obo:GARD_10147 BOR syndrome skos:exactMatch Orphanet:107 semapv:UnspecifiedMatching +obo:GARD_10147 BOR syndrome skos:narrowMatch OMIM:113650 semapv:UnspecifiedMatching +obo:GARD_10147 BOR syndrome skos:narrowMatch OMIM:610896 semapv:UnspecifiedMatching +obo:GARD_10148 Branchiootic syndrome skos:exactMatch Orphanet:52429 semapv:UnspecifiedMatching +obo:GARD_10148 Branchiootic syndrome skos:narrowMatch OMIM:120502 semapv:UnspecifiedMatching +obo:GARD_10148 Branchiootic syndrome skos:narrowMatch OMIM:602588 semapv:UnspecifiedMatching +obo:GARD_10148 Branchiootic syndrome skos:narrowMatch OMIM:608389 semapv:UnspecifiedMatching +obo:GARD_10149 Kyphomelic dysplasia skos:exactMatch Orphanet:1801 semapv:UnspecifiedMatching +obo:GARD_10149 Kyphomelic dysplasia skos:narrowMatch OMIM:211350 semapv:UnspecifiedMatching +obo:GARD_10151 Aicardi-goutieres syndrome 5 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_10151 Aicardi-goutieres syndrome 5 skos:exactMatch OMIM:612952 semapv:UnspecifiedMatching +obo:GARD_10152 Osteogenesis imperfecta, type viii skos:broadMatch Orphanet:216804 semapv:UnspecifiedMatching +obo:GARD_10152 Osteogenesis imperfecta, type viii skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_10152 Osteogenesis imperfecta, type viii skos:exactMatch OMIM:610915 semapv:UnspecifiedMatching +obo:GARD_10153 Pulmonary venoocclusive disease skos:exactMatch Orphanet:31837 semapv:UnspecifiedMatching +obo:GARD_10153 Pulmonary venoocclusive disease skos:narrowMatch OMIM:265450 semapv:UnspecifiedMatching +obo:GARD_10156 Congenital chylothorax skos:exactMatch Orphanet:264688 semapv:UnspecifiedMatching +obo:GARD_10156 Congenital chylothorax skos:narrowMatch OMIM:603523 semapv:UnspecifiedMatching +obo:GARD_10163 Curly hair-acral keratoderma-caries syndrome skos:exactMatch Orphanet:307766 semapv:UnspecifiedMatching +obo:GARD_10163 Curly hair-acral keratoderma-caries syndrome skos:narrowMatch OMIM:607656 semapv:UnspecifiedMatching +obo:GARD_10167 Joubert syndrome 2 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +obo:GARD_10167 Joubert syndrome 2 skos:exactMatch OMIM:608091 semapv:UnspecifiedMatching +obo:GARD_10168 Joubert syndrome with ocular defect skos:exactMatch Orphanet:220493 semapv:UnspecifiedMatching +obo:GARD_10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:608629 semapv:UnspecifiedMatching +obo:GARD_10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +obo:GARD_10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:614464 semapv:UnspecifiedMatching +obo:GARD_10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:614970 semapv:UnspecifiedMatching +obo:GARD_10168 Joubert syndrome with ocular defect skos:narrowMatch OMIM:617121 semapv:UnspecifiedMatching +obo:GARD_10169 Joubert syndrome with renal defect skos:exactMatch Orphanet:220497 semapv:UnspecifiedMatching +obo:GARD_10169 Joubert syndrome with renal defect skos:narrowMatch OMIM:609583 semapv:UnspecifiedMatching +obo:GARD_10169 Joubert syndrome with renal defect skos:narrowMatch OMIM:611560 semapv:UnspecifiedMatching +obo:GARD_10169 Joubert syndrome with renal defect skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166200 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166210 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166220 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:166230 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:259420 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610915 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610967 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:610968 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:613848 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:613849 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:613982 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:614856 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:615066 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:615220 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:616229 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:616507 semapv:UnspecifiedMatching +obo:GARD_1017 Osteogenesis imperfecta skos:narrowMatch OMIM:619131 semapv:UnspecifiedMatching +obo:GARD_10173 Florid cemento-osseous dysplasia skos:exactMatch Orphanet:83451 semapv:UnspecifiedMatching +obo:GARD_10175 Klatskin tumor skos:exactMatch Orphanet:99978 semapv:UnspecifiedMatching +obo:GARD_10177 Mirizzi syndrome skos:exactMatch Orphanet:521219 semapv:UnspecifiedMatching +obo:GARD_10179 Brooke-Spiegler syndrome skos:exactMatch Orphanet:79493 semapv:UnspecifiedMatching +obo:GARD_10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:132700 semapv:UnspecifiedMatching +obo:GARD_10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:601606 semapv:UnspecifiedMatching +obo:GARD_10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:605041 semapv:UnspecifiedMatching +obo:GARD_10179 Brooke-Spiegler syndrome skos:narrowMatch OMIM:612099 semapv:UnspecifiedMatching +obo:GARD_10181 Epithelioid sarcoma skos:exactMatch Orphanet:293202 semapv:UnspecifiedMatching +obo:GARD_10184 Hereditary cryohydrocytosis with normal stomatin skos:exactMatch Orphanet:398088 semapv:UnspecifiedMatching +obo:GARD_10184 Hereditary cryohydrocytosis with normal stomatin skos:narrowMatch OMIM:185020 semapv:UnspecifiedMatching +obo:GARD_10188 Angioma serpiginosum, x-linked skos:broadMatch Orphanet:95429 semapv:UnspecifiedMatching +obo:GARD_10188 Angioma serpiginosum, x-linked skos:exactMatch OMIM:300652 semapv:UnspecifiedMatching +obo:GARD_10189 Angioma serpiginosum, autosomal dominant skos:broadMatch Orphanet:95429 semapv:UnspecifiedMatching +obo:GARD_10189 Angioma serpiginosum, autosomal dominant skos:exactMatch OMIM:106050 semapv:UnspecifiedMatching +obo:GARD_1019 Brittle cornea syndrome skos:exactMatch Orphanet:90354 semapv:UnspecifiedMatching +obo:GARD_1019 Brittle cornea syndrome skos:narrowMatch OMIM:229200 semapv:UnspecifiedMatching +obo:GARD_1019 Brittle cornea syndrome skos:narrowMatch OMIM:614170 semapv:UnspecifiedMatching +obo:GARD_10190 Isolated focal cortical dysplasia type II skos:exactMatch Orphanet:268994 semapv:UnspecifiedMatching +obo:GARD_10190 Isolated focal cortical dysplasia type II skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +obo:GARD_10193 Subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch Orphanet:86884 semapv:UnspecifiedMatching +obo:GARD_10193 Subcutaneous panniculitis-like T-cell lymphoma skos:narrowMatch OMIM:618398 semapv:UnspecifiedMatching +obo:GARD_10199 Early-onset X-linked optic atrophy skos:exactMatch Orphanet:98890 semapv:UnspecifiedMatching +obo:GARD_10199 Early-onset X-linked optic atrophy skos:narrowMatch OMIM:311050 semapv:UnspecifiedMatching +obo:GARD_102 Neu-Laxova syndrome skos:exactMatch Orphanet:2671 semapv:UnspecifiedMatching +obo:GARD_102 Neu-Laxova syndrome skos:narrowMatch OMIM:256520 semapv:UnspecifiedMatching +obo:GARD_102 Neu-Laxova syndrome skos:narrowMatch OMIM:616038 semapv:UnspecifiedMatching +obo:GARD_10200 Optic atrophy 6 skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +obo:GARD_10200 Optic atrophy 6 skos:exactMatch OMIM:258500 semapv:UnspecifiedMatching +obo:GARD_10201 Optic atrophy 5 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +obo:GARD_10201 Optic atrophy 5 skos:exactMatch OMIM:610708 semapv:UnspecifiedMatching +obo:GARD_10202 2q37 microdeletion syndrome skos:exactMatch Orphanet:1001 semapv:UnspecifiedMatching +obo:GARD_10202 2q37 microdeletion syndrome skos:narrowMatch OMIM:600430 semapv:UnspecifiedMatching +obo:GARD_10203 Autosomal dominant optic atrophy and cataract skos:exactMatch Orphanet:67036 semapv:UnspecifiedMatching +obo:GARD_10203 Autosomal dominant optic atrophy and cataract skos:narrowMatch OMIM:165300 semapv:UnspecifiedMatching +obo:GARD_10204 Bardet-biedl syndrome 5 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10204 Bardet-biedl syndrome 5 skos:exactMatch OMIM:615983 semapv:UnspecifiedMatching +obo:GARD_10205 Bardet-biedl syndrome 6 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10205 Bardet-biedl syndrome 6 skos:exactMatch OMIM:605231 semapv:UnspecifiedMatching +obo:GARD_10206 Bardet-biedl syndrome 7 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10206 Bardet-biedl syndrome 7 skos:exactMatch OMIM:615984 semapv:UnspecifiedMatching +obo:GARD_10207 Bardet-biedl syndrome 8 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10207 Bardet-biedl syndrome 8 skos:exactMatch OMIM:615985 semapv:UnspecifiedMatching +obo:GARD_10208 Bardet-biedl syndrome 9 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10208 Bardet-biedl syndrome 9 skos:exactMatch OMIM:615986 semapv:UnspecifiedMatching +obo:GARD_10209 Bardet-biedl syndrome 10 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10209 Bardet-biedl syndrome 10 skos:exactMatch OMIM:615987 semapv:UnspecifiedMatching +obo:GARD_10210 Bardet-biedl syndrome 11 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10210 Bardet-biedl syndrome 11 skos:exactMatch OMIM:615988 semapv:UnspecifiedMatching +obo:GARD_10211 Bardet-biedl syndrome 12 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_10211 Bardet-biedl syndrome 12 skos:exactMatch OMIM:615989 semapv:UnspecifiedMatching +obo:GARD_10212 Lipodystrophy, congenital generalized, type 2 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +obo:GARD_10212 Lipodystrophy, congenital generalized, type 2 skos:exactMatch OMIM:269700 semapv:UnspecifiedMatching +obo:GARD_10213 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching +obo:GARD_10213 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:narrowMatch OMIM:110100 semapv:UnspecifiedMatching +obo:GARD_10214 Neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching +obo:GARD_10214 Neonatal intrahepatic cholestasis due to citrin deficiency skos:narrowMatch OMIM:605814 semapv:UnspecifiedMatching +obo:GARD_10215 Citrullinemia type II skos:exactMatch Orphanet:247585 semapv:UnspecifiedMatching +obo:GARD_10215 Citrullinemia type II skos:narrowMatch OMIM:603471 semapv:UnspecifiedMatching +obo:GARD_10216 NDE1-related microhydranencephaly skos:exactMatch Orphanet:443162 semapv:UnspecifiedMatching +obo:GARD_10216 NDE1-related microhydranencephaly skos:narrowMatch OMIM:605013 semapv:UnspecifiedMatching +obo:GARD_10220 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch Orphanet:137678 semapv:UnspecifiedMatching +obo:GARD_10220 Spondyloepiphyseal dysplasia with metatarsal shortening skos:narrowMatch OMIM:609162 semapv:UnspecifiedMatching +obo:GARD_10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:93111 semapv:UnspecifiedMatching +obo:GARD_10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:137920 semapv:UnspecifiedMatching +obo:GARD_10221 HNF1B-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:616026 semapv:UnspecifiedMatching +obo:GARD_10223 Isobutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79159 semapv:UnspecifiedMatching +obo:GARD_10223 Isobutyryl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:611283 semapv:UnspecifiedMatching +obo:GARD_10224 Zygomycosis skos:exactMatch Orphanet:73263 semapv:UnspecifiedMatching +obo:GARD_10225 Multiple endocrine neoplasia type 2B skos:exactMatch Orphanet:247709 semapv:UnspecifiedMatching +obo:GARD_10225 Multiple endocrine neoplasia type 2B skos:narrowMatch OMIM:162300 semapv:UnspecifiedMatching +obo:GARD_10226 COG1-CDG skos:exactMatch Orphanet:263508 semapv:UnspecifiedMatching +obo:GARD_10226 COG1-CDG skos:narrowMatch OMIM:611209 semapv:UnspecifiedMatching +obo:GARD_10229 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:exactMatch Orphanet:266 semapv:UnspecifiedMatching +obo:GARD_10229 Autosomal dominant limb-girdle muscular dystrophy type 1A skos:narrowMatch OMIM:609200 semapv:UnspecifiedMatching +obo:GARD_10230 Emery-dreifuss muscular dystrophy 2, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +obo:GARD_10230 Emery-dreifuss muscular dystrophy 2, autosomal dominant skos:exactMatch OMIM:181350 semapv:UnspecifiedMatching +obo:GARD_10237 Biotin-thiamine-responsive basal ganglia disease skos:exactMatch Orphanet:65284 semapv:UnspecifiedMatching +obo:GARD_10237 Biotin-thiamine-responsive basal ganglia disease skos:narrowMatch OMIM:607483 semapv:UnspecifiedMatching +obo:GARD_10238 Myostatin-related muscle hypertrophy skos:exactMatch Orphanet:275534 semapv:UnspecifiedMatching +obo:GARD_10238 Myostatin-related muscle hypertrophy skos:narrowMatch OMIM:614160 semapv:UnspecifiedMatching +obo:GARD_10239 H syndrome skos:exactMatch Orphanet:168569 semapv:UnspecifiedMatching +obo:GARD_10239 H syndrome skos:narrowMatch OMIM:602782 semapv:UnspecifiedMatching +obo:GARD_10241 Diamond-blackfan anemia 3 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_10241 Diamond-blackfan anemia 3 skos:exactMatch OMIM:610629 semapv:UnspecifiedMatching +obo:GARD_10244 Familial lipase maturation factor 1 deficiency skos:exactMatch Orphanet:535453 semapv:UnspecifiedMatching +obo:GARD_10244 Familial lipase maturation factor 1 deficiency skos:narrowMatch OMIM:246650 semapv:UnspecifiedMatching +obo:GARD_10247 Down syndrome skos:exactMatch Orphanet:870 semapv:UnspecifiedMatching +obo:GARD_10247 Down syndrome skos:narrowMatch OMIM:190685 semapv:UnspecifiedMatching +obo:GARD_10248 Rare disease with autism skos:exactMatch Orphanet:180772 semapv:UnspecifiedMatching +obo:GARD_1025 Bronchogenic cyst skos:exactMatch Orphanet:2357 semapv:UnspecifiedMatching +obo:GARD_10252 Primary Sjögren syndrome skos:exactMatch Orphanet:289390 semapv:UnspecifiedMatching +obo:GARD_10252 Primary Sjögren syndrome skos:narrowMatch OMIM:270150 semapv:UnspecifiedMatching +obo:GARD_10263 Hydatidiform mole skos:exactMatch Orphanet:99927 semapv:UnspecifiedMatching +obo:GARD_10263 Hydatidiform mole skos:narrowMatch OMIM:231090 semapv:UnspecifiedMatching +obo:GARD_10263 Hydatidiform mole skos:narrowMatch OMIM:614293 semapv:UnspecifiedMatching +obo:GARD_10266 Hereditary cerebral hemorrhage with amyloidosis skos:exactMatch Orphanet:85458 semapv:UnspecifiedMatching +obo:GARD_10266 Hereditary cerebral hemorrhage with amyloidosis skos:narrowMatch OMIM:105150 semapv:UnspecifiedMatching +obo:GARD_10266 Hereditary cerebral hemorrhage with amyloidosis skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_10267 Hyper-beta-alaninemia skos:exactMatch Orphanet:309147 semapv:UnspecifiedMatching +obo:GARD_10267 Hyper-beta-alaninemia skos:narrowMatch OMIM:237400 semapv:UnspecifiedMatching +obo:GARD_10277 Adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch Orphanet:2952 semapv:UnspecifiedMatching +obo:GARD_10277 Adducted thumbs-arthrogryposis syndrome, Christian type skos:narrowMatch OMIM:201550 semapv:UnspecifiedMatching +obo:GARD_10280 Isolated Klippel-Feil syndrome skos:exactMatch Orphanet:2345 semapv:UnspecifiedMatching +obo:GARD_10280 Isolated Klippel-Feil syndrome skos:narrowMatch OMIM:118100 semapv:UnspecifiedMatching +obo:GARD_10280 Isolated Klippel-Feil syndrome skos:narrowMatch OMIM:214300 semapv:UnspecifiedMatching +obo:GARD_10280 Isolated Klippel-Feil syndrome skos:narrowMatch OMIM:613702 semapv:UnspecifiedMatching +obo:GARD_10281 Axenfeld-rieger syndrome, type 1 skos:broadMatch Orphanet:782 semapv:UnspecifiedMatching +obo:GARD_10281 Axenfeld-rieger syndrome, type 1 skos:exactMatch OMIM:180500 semapv:UnspecifiedMatching +obo:GARD_10283 Desmosterolosis skos:exactMatch Orphanet:35107 semapv:UnspecifiedMatching +obo:GARD_10283 Desmosterolosis skos:narrowMatch OMIM:602398 semapv:UnspecifiedMatching +obo:GARD_10287 Rolandic epilepsy skos:exactMatch Orphanet:1945 semapv:UnspecifiedMatching +obo:GARD_10287 Rolandic epilepsy skos:narrowMatch OMIM:117100 semapv:UnspecifiedMatching +obo:GARD_10287 Rolandic epilepsy skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +obo:GARD_10288 Neutral lipid storage myopathy skos:exactMatch Orphanet:98908 semapv:UnspecifiedMatching +obo:GARD_10288 Neutral lipid storage myopathy skos:narrowMatch OMIM:610717 semapv:UnspecifiedMatching +obo:GARD_1029 Bruck syndrome skos:exactMatch Orphanet:2771 semapv:UnspecifiedMatching +obo:GARD_1029 Bruck syndrome skos:narrowMatch OMIM:259450 semapv:UnspecifiedMatching +obo:GARD_1029 Bruck syndrome skos:narrowMatch OMIM:609220 semapv:UnspecifiedMatching +obo:GARD_10290 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch Orphanet:166277 semapv:UnspecifiedMatching +obo:GARD_10290 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:narrowMatch OMIM:604922 semapv:UnspecifiedMatching +obo:GARD_10291 Linear nevus sebaceus syndrome skos:exactMatch Orphanet:2612 semapv:UnspecifiedMatching +obo:GARD_10291 Linear nevus sebaceus syndrome skos:narrowMatch OMIM:163200 semapv:UnspecifiedMatching +obo:GARD_10294 Autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching +obo:GARD_10294 Autosomal recessive ataxia due to ubiquinone deficiency skos:narrowMatch OMIM:612016 semapv:UnspecifiedMatching +obo:GARD_10294 Autosomal recessive ataxia due to ubiquinone deficiency skos:narrowMatch OMIM:619028 semapv:UnspecifiedMatching +obo:GARD_10295 Syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch Orphanet:140952 semapv:UnspecifiedMatching +obo:GARD_10295 Syndactyly-telecanthus-anogenital and renal malformations syndrome skos:narrowMatch OMIM:300707 semapv:UnspecifiedMatching +obo:GARD_10296 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 semapv:UnspecifiedMatching +obo:GARD_10296 15q13.3 microdeletion syndrome skos:narrowMatch OMIM:612001 semapv:UnspecifiedMatching +obo:GARD_10297 Ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching +obo:GARD_10297 Ghosal hematodiaphyseal dysplasia skos:narrowMatch OMIM:231095 semapv:UnspecifiedMatching +obo:GARD_10299 22q11.2 deletion syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching +obo:GARD_10299 22q11.2 deletion syndrome skos:narrowMatch OMIM:188400 semapv:UnspecifiedMatching +obo:GARD_10299 22q11.2 deletion syndrome skos:narrowMatch OMIM:192430 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:exactMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:601144 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:611777 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:611875 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:611876 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:612838 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:613119 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:613120 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:613123 semapv:UnspecifiedMatching +obo:GARD_1030 Brugada syndrome skos:narrowMatch OMIM:616399 semapv:UnspecifiedMatching +obo:GARD_10300 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch Orphanet:139450 semapv:UnspecifiedMatching +obo:GARD_10300 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:narrowMatch OMIM:611863 semapv:UnspecifiedMatching +obo:GARD_10301 Autosomal recessive bestrophinopathy skos:exactMatch Orphanet:139455 semapv:UnspecifiedMatching +obo:GARD_10301 Autosomal recessive bestrophinopathy skos:narrowMatch OMIM:611809 semapv:UnspecifiedMatching +obo:GARD_10302 SERKAL syndrome skos:exactMatch Orphanet:139466 semapv:UnspecifiedMatching +obo:GARD_10302 SERKAL syndrome skos:narrowMatch OMIM:611812 semapv:UnspecifiedMatching +obo:GARD_10303 Autism-facial port-wine stain syndrome skos:exactMatch Orphanet:137911 semapv:UnspecifiedMatching +obo:GARD_10304 8p23.1 duplication syndrome skos:exactMatch Orphanet:251076 semapv:UnspecifiedMatching +obo:GARD_10306 Nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch Orphanet:93606 semapv:UnspecifiedMatching +obo:GARD_10306 Nephrogenic syndrome of inappropriate antidiuresis skos:narrowMatch OMIM:300539 semapv:UnspecifiedMatching +obo:GARD_10307 Congenital disorder of glycosylation skos:exactMatch Orphanet:137 semapv:UnspecifiedMatching +obo:GARD_10311 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:exactMatch Orphanet:70592 semapv:UnspecifiedMatching +obo:GARD_10311 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency skos:narrowMatch OMIM:607676 semapv:UnspecifiedMatching +obo:GARD_10312 Neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch Orphanet:85146 semapv:UnspecifiedMatching +obo:GARD_10312 Neurogenic scapuloperoneal syndrome, Kaeser type skos:narrowMatch OMIM:181400 semapv:UnspecifiedMatching +obo:GARD_10313 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:437572 semapv:UnspecifiedMatching +obo:GARD_10313 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:narrowMatch OMIM:181430 semapv:UnspecifiedMatching +obo:GARD_10314 Scapuloperoneal spinal muscular atrophy skos:exactMatch Orphanet:431255 semapv:UnspecifiedMatching +obo:GARD_10314 Scapuloperoneal spinal muscular atrophy skos:narrowMatch OMIM:181405 semapv:UnspecifiedMatching +obo:GARD_10316 Congenital multicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching +obo:GARD_10316 Congenital multicore myopathy with external ophthalmoplegia skos:narrowMatch OMIM:255320 semapv:UnspecifiedMatching +obo:GARD_10317 Megaconial congenital muscular dystrophy skos:exactMatch Orphanet:280671 semapv:UnspecifiedMatching +obo:GARD_10317 Megaconial congenital muscular dystrophy skos:narrowMatch OMIM:602541 semapv:UnspecifiedMatching +obo:GARD_10319 Autosomal dominant prognathism skos:exactMatch Orphanet:2964 semapv:UnspecifiedMatching +obo:GARD_10319 Autosomal dominant prognathism skos:narrowMatch OMIM:176700 semapv:UnspecifiedMatching +obo:GARD_10320 Corneal dystrophy, lattice type iiia skos:broadMatch Orphanet:98964 semapv:UnspecifiedMatching +obo:GARD_10320 Corneal dystrophy, lattice type iiia skos:exactMatch OMIM:608471 semapv:UnspecifiedMatching +obo:GARD_10321 3-methylglutaconic aciduria type 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching +obo:GARD_10321 3-methylglutaconic aciduria type 1 skos:narrowMatch OMIM:250950 semapv:UnspecifiedMatching +obo:GARD_10322 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79157 semapv:UnspecifiedMatching +obo:GARD_10322 2-methylbutyryl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:610006 semapv:UnspecifiedMatching +obo:GARD_10323 L-Arginine:glycine amidinotransferase deficiency skos:exactMatch Orphanet:35704 semapv:UnspecifiedMatching +obo:GARD_10323 L-Arginine:glycine amidinotransferase deficiency skos:narrowMatch OMIM:612718 semapv:UnspecifiedMatching +obo:GARD_10324 Mild phenylketonuria skos:exactMatch Orphanet:79253 semapv:UnspecifiedMatching +obo:GARD_10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch Orphanet:431361 semapv:UnspecifiedMatching +obo:GARD_10327 Progressive encephalopathy with leukodystrophy due to DECR deficiency skos:narrowMatch OMIM:616034 semapv:UnspecifiedMatching +obo:GARD_1033 X-linked agammaglobulinemia skos:exactMatch Orphanet:47 semapv:UnspecifiedMatching +obo:GARD_1033 X-linked agammaglobulinemia skos:narrowMatch OMIM:300310 semapv:UnspecifiedMatching +obo:GARD_1033 X-linked agammaglobulinemia skos:narrowMatch OMIM:300755 semapv:UnspecifiedMatching +obo:GARD_10332 Tyrosinemia type 3 skos:exactMatch Orphanet:69723 semapv:UnspecifiedMatching +obo:GARD_10332 Tyrosinemia type 3 skos:narrowMatch OMIM:276710 semapv:UnspecifiedMatching +obo:GARD_10333 Sickle cell-beta-thalassemia disease syndrome skos:exactMatch Orphanet:251359 semapv:UnspecifiedMatching +obo:GARD_10335 Mucopolysaccharidosis type 1 skos:exactMatch Orphanet:579 semapv:UnspecifiedMatching +obo:GARD_10335 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607014 semapv:UnspecifiedMatching +obo:GARD_10335 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607015 semapv:UnspecifiedMatching +obo:GARD_10335 Mucopolysaccharidosis type 1 skos:narrowMatch OMIM:607016 semapv:UnspecifiedMatching +obo:GARD_10339 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:exactMatch Orphanet:331206 semapv:UnspecifiedMatching +obo:GARD_10339 Severe combined immunodeficiency due to complete RAG1/2 deficiency skos:narrowMatch OMIM:601457 semapv:UnspecifiedMatching +obo:GARD_10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch Orphanet:83473 semapv:UnspecifiedMatching +obo:GARD_10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:narrowMatch OMIM:603387 semapv:UnspecifiedMatching +obo:GARD_10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:narrowMatch OMIM:615937 semapv:UnspecifiedMatching +obo:GARD_10341 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:narrowMatch OMIM:615938 semapv:UnspecifiedMatching +obo:GARD_10342 3-methylglutaconic aciduria type 4 skos:exactMatch Orphanet:67048 semapv:UnspecifiedMatching +obo:GARD_10342 3-methylglutaconic aciduria type 4 skos:narrowMatch OMIM:250951 semapv:UnspecifiedMatching +obo:GARD_10346 Gamma-heavy chain disease skos:exactMatch Orphanet:100026 semapv:UnspecifiedMatching +obo:GARD_10351 Spinocerebellar ataxia type 6 skos:exactMatch Orphanet:98758 semapv:UnspecifiedMatching +obo:GARD_10351 Spinocerebellar ataxia type 6 skos:narrowMatch OMIM:183086 semapv:UnspecifiedMatching +obo:GARD_10352 Familial platelet disorder with associated myeloid malignancy skos:exactMatch Orphanet:71290 semapv:UnspecifiedMatching +obo:GARD_10352 Familial platelet disorder with associated myeloid malignancy skos:narrowMatch OMIM:601399 semapv:UnspecifiedMatching +obo:GARD_10352 Familial platelet disorder with associated myeloid malignancy skos:narrowMatch OMIM:616216 semapv:UnspecifiedMatching +obo:GARD_10353 Porphyria skos:exactMatch Orphanet:738 semapv:UnspecifiedMatching +obo:GARD_10354 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:exactMatch Orphanet:496693 semapv:UnspecifiedMatching +obo:GARD_10354 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:narrowMatch OMIM:609545 semapv:UnspecifiedMatching +obo:GARD_10355 Familial congenital palsy of trochlear nerve skos:exactMatch Orphanet:91498 semapv:UnspecifiedMatching +obo:GARD_10355 Familial congenital palsy of trochlear nerve skos:narrowMatch OMIM:136480 semapv:UnspecifiedMatching +obo:GARD_10358 Intellectual disability, Birk-Barel type skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching +obo:GARD_10358 Intellectual disability, Birk-Barel type skos:narrowMatch OMIM:612292 semapv:UnspecifiedMatching +obo:GARD_10359 Paralysis agitans, juvenile, of hunt skos:broadMatch Orphanet:171695 semapv:UnspecifiedMatching +obo:GARD_10359 Paralysis agitans, juvenile, of hunt skos:exactMatch OMIM:168100 semapv:UnspecifiedMatching +obo:GARD_10360 3q29 microduplication syndrome skos:exactMatch Orphanet:251038 semapv:UnspecifiedMatching +obo:GARD_10360 3q29 microduplication syndrome skos:narrowMatch OMIM:611936 semapv:UnspecifiedMatching +obo:GARD_10361 Brugada syndrome 3 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_10361 Brugada syndrome 3 skos:exactMatch OMIM:611875 semapv:UnspecifiedMatching +obo:GARD_10362 Brugada syndrome 4 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_10362 Brugada syndrome 4 skos:exactMatch OMIM:611876 semapv:UnspecifiedMatching +obo:GARD_10363 Idiopathic trachyonychia skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching +obo:GARD_10363 Idiopathic trachyonychia skos:narrowMatch OMIM:161050 semapv:UnspecifiedMatching +obo:GARD_10364 Jervell and lange-nielsen syndrome 2 skos:broadMatch Orphanet:90647 semapv:UnspecifiedMatching +obo:GARD_10364 Jervell and lange-nielsen syndrome 2 skos:exactMatch OMIM:612347 semapv:UnspecifiedMatching +obo:GARD_10365 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch Orphanet:70594 semapv:UnspecifiedMatching +obo:GARD_10365 Dopa-responsive dystonia due to sepiapterin reductase deficiency skos:narrowMatch OMIM:612716 semapv:UnspecifiedMatching +obo:GARD_10366 Toriello-Lacassie-Droste syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching +obo:GARD_10366 Toriello-Lacassie-Droste syndrome skos:narrowMatch OMIM:600268 semapv:UnspecifiedMatching +obo:GARD_10367 Lelis syndrome skos:exactMatch Orphanet:140936 semapv:UnspecifiedMatching +obo:GARD_10367 Lelis syndrome skos:narrowMatch OMIM:608290 semapv:UnspecifiedMatching +obo:GARD_1037 Primary basilar invagination skos:exactMatch Orphanet:2285 semapv:UnspecifiedMatching +obo:GARD_1037 Primary basilar invagination skos:narrowMatch OMIM:109500 semapv:UnspecifiedMatching +obo:GARD_10372 Trehalase deficiency skos:exactMatch Orphanet:103909 semapv:UnspecifiedMatching +obo:GARD_10372 Trehalase deficiency skos:narrowMatch OMIM:612119 semapv:UnspecifiedMatching +obo:GARD_10373 Trichoepithelioma, multiple familial, 2 skos:broadMatch Orphanet:867 semapv:UnspecifiedMatching +obo:GARD_10373 Trichoepithelioma, multiple familial, 2 skos:exactMatch OMIM:612099 semapv:UnspecifiedMatching +obo:GARD_10376 Retinitis pigmentosa 12 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10376 Retinitis pigmentosa 12 skos:exactMatch OMIM:600105 semapv:UnspecifiedMatching +obo:GARD_10377 Retinitis pigmentosa 6 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10377 Retinitis pigmentosa 6 skos:exactMatch OMIM:312612 semapv:UnspecifiedMatching +obo:GARD_10378 Retinitis pigmentosa 29 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10378 Retinitis pigmentosa 29 skos:exactMatch OMIM:612165 semapv:UnspecifiedMatching +obo:GARD_10379 Retinitis pigmentosa 41 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10379 Retinitis pigmentosa 41 skos:exactMatch OMIM:612095 semapv:UnspecifiedMatching +obo:GARD_1038 Hereditary bullous dystrophy, macular type skos:exactMatch Orphanet:1867 semapv:UnspecifiedMatching +obo:GARD_1038 Hereditary bullous dystrophy, macular type skos:narrowMatch OMIM:302000 semapv:UnspecifiedMatching +obo:GARD_10380 Retinitis pigmentosa 2 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10380 Retinitis pigmentosa 2 skos:exactMatch OMIM:312600 semapv:UnspecifiedMatching +obo:GARD_10381 Retinitis pigmentosa 3 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10381 Retinitis pigmentosa 3 skos:exactMatch OMIM:300029 semapv:UnspecifiedMatching +obo:GARD_10382 Retinitis pigmentosa 9 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10382 Retinitis pigmentosa 9 skos:exactMatch OMIM:180104 semapv:UnspecifiedMatching +obo:GARD_10383 Retinitis pigmentosa 11 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10383 Retinitis pigmentosa 11 skos:exactMatch OMIM:600138 semapv:UnspecifiedMatching +obo:GARD_10384 Retinitis pigmentosa 25 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10384 Retinitis pigmentosa 25 skos:exactMatch OMIM:602772 semapv:UnspecifiedMatching +obo:GARD_10385 Retinitis pigmentosa 14 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10385 Retinitis pigmentosa 14 skos:exactMatch OMIM:600132 semapv:UnspecifiedMatching +obo:GARD_10386 Retinitis pigmentosa 7 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10386 Retinitis pigmentosa 7 skos:exactMatch OMIM:608133 semapv:UnspecifiedMatching +obo:GARD_10387 Retinitis pigmentosa 17 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10387 Retinitis pigmentosa 17 skos:exactMatch OMIM:600852 semapv:UnspecifiedMatching +obo:GARD_10388 Retinitis pigmentosa 13 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10388 Retinitis pigmentosa 13 skos:exactMatch OMIM:600059 semapv:UnspecifiedMatching +obo:GARD_10389 Retinitis pigmentosa 24 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10389 Retinitis pigmentosa 24 skos:exactMatch OMIM:300155 semapv:UnspecifiedMatching +obo:GARD_1039 Autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 semapv:UnspecifiedMatching +obo:GARD_1039 Autosomal dominant epidermolytic ichthyosis skos:narrowMatch OMIM:113800 semapv:UnspecifiedMatching +obo:GARD_1039 Autosomal dominant epidermolytic ichthyosis skos:narrowMatch OMIM:607602 semapv:UnspecifiedMatching +obo:GARD_10390 Retinitis pigmentosa 34 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10390 Retinitis pigmentosa 34 skos:exactMatch OMIM:300605 semapv:UnspecifiedMatching +obo:GARD_10391 Retinitis pigmentosa 23 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10391 Retinitis pigmentosa 23 skos:exactMatch OMIM:300424 semapv:UnspecifiedMatching +obo:GARD_10392 Retinitis pigmentosa 18 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10392 Retinitis pigmentosa 18 skos:exactMatch OMIM:601414 semapv:UnspecifiedMatching +obo:GARD_10393 Retinitis pigmentosa 22 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10393 Retinitis pigmentosa 22 skos:exactMatch OMIM:602594 semapv:UnspecifiedMatching +obo:GARD_10394 Retinitis pigmentosa 28 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10394 Retinitis pigmentosa 28 skos:exactMatch OMIM:606068 semapv:UnspecifiedMatching +obo:GARD_10395 Retinitis pigmentosa 32 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10395 Retinitis pigmentosa 32 skos:exactMatch OMIM:609913 semapv:UnspecifiedMatching +obo:GARD_10396 Retinitis pigmentosa 31 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10396 Retinitis pigmentosa 31 skos:exactMatch OMIM:609923 semapv:UnspecifiedMatching +obo:GARD_10397 Retinitis pigmentosa 26 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10397 Retinitis pigmentosa 26 skos:exactMatch OMIM:608380 semapv:UnspecifiedMatching +obo:GARD_10398 Retinitis pigmentosa 19 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10398 Retinitis pigmentosa 19 skos:exactMatch OMIM:601718 semapv:UnspecifiedMatching +obo:GARD_104 Ochoa syndrome skos:exactMatch Orphanet:2704 semapv:UnspecifiedMatching +obo:GARD_104 Ochoa syndrome skos:narrowMatch OMIM:236730 semapv:UnspecifiedMatching +obo:GARD_104 Ochoa syndrome skos:narrowMatch OMIM:615112 semapv:UnspecifiedMatching +obo:GARD_10400 Retinitis pigmentosa 33 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10400 Retinitis pigmentosa 33 skos:exactMatch OMIM:610359 semapv:UnspecifiedMatching +obo:GARD_10401 Retinitis pigmentosa 30 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10401 Retinitis pigmentosa 30 skos:exactMatch OMIM:607921 semapv:UnspecifiedMatching +obo:GARD_10402 Retinitis pigmentosa 35 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10402 Retinitis pigmentosa 35 skos:exactMatch OMIM:610282 semapv:UnspecifiedMatching +obo:GARD_10403 Retinitis pigmentosa 36 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10403 Retinitis pigmentosa 36 skos:exactMatch OMIM:610599 semapv:UnspecifiedMatching +obo:GARD_10404 Retinitis pigmentosa 20 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10404 Retinitis pigmentosa 20 skos:exactMatch OMIM:613794 semapv:UnspecifiedMatching +obo:GARD_10405 Retinitis pigmentosa 4 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_10405 Retinitis pigmentosa 4 skos:exactMatch OMIM:613731 semapv:UnspecifiedMatching +obo:GARD_10407 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch Orphanet:293987 semapv:UnspecifiedMatching +obo:GARD_10411 Small cell carcinoma of the ovary skos:exactMatch Orphanet:370396 semapv:UnspecifiedMatching +obo:GARD_10413 Autosomal dominant polycystic kidney disease skos:exactMatch Orphanet:730 semapv:UnspecifiedMatching +obo:GARD_10413 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:173900 semapv:UnspecifiedMatching +obo:GARD_10413 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:600666 semapv:UnspecifiedMatching +obo:GARD_10413 Autosomal dominant polycystic kidney disease skos:narrowMatch OMIM:613095 semapv:UnspecifiedMatching +obo:GARD_10414 Goblet cell carcinoma skos:exactMatch Orphanet:329984 semapv:UnspecifiedMatching +obo:GARD_10416 Homozygous familial hypercholesterolemia skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching +obo:GARD_10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:143890 semapv:UnspecifiedMatching +obo:GARD_10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:144010 semapv:UnspecifiedMatching +obo:GARD_10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:602247 semapv:UnspecifiedMatching +obo:GARD_10416 Homozygous familial hypercholesterolemia skos:narrowMatch OMIM:603813 semapv:UnspecifiedMatching +obo:GARD_10417 Symptomatic form of hemochromatosis type 1 skos:exactMatch Orphanet:465508 semapv:UnspecifiedMatching +obo:GARD_10417 Symptomatic form of hemochromatosis type 1 skos:narrowMatch OMIM:235200 semapv:UnspecifiedMatching +obo:GARD_10418 Hemophilia skos:exactMatch Orphanet:448 semapv:UnspecifiedMatching +obo:GARD_10419 Myotonic dystrophy skos:exactMatch Orphanet:206647 semapv:UnspecifiedMatching +obo:GARD_10423 Coenzyme Q10 deficiency skos:exactMatch Orphanet:35656 semapv:UnspecifiedMatching +obo:GARD_10424 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch Orphanet:199354 semapv:UnspecifiedMatching +obo:GARD_10424 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy skos:narrowMatch OMIM:600142 semapv:UnspecifiedMatching +obo:GARD_10427 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:181 semapv:UnspecifiedMatching +obo:GARD_10427 X-linked hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:305100 semapv:UnspecifiedMatching +obo:GARD_10428 Pure autonomic failure skos:exactMatch Orphanet:441 semapv:UnspecifiedMatching +obo:GARD_10429 Autosomal dominant brachyolmia skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching +obo:GARD_10429 Autosomal dominant brachyolmia skos:narrowMatch OMIM:113500 semapv:UnspecifiedMatching +obo:GARD_10430 Dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching +obo:GARD_10430 Dravet syndrome skos:narrowMatch OMIM:607208 semapv:UnspecifiedMatching +obo:GARD_10430 Dravet syndrome skos:narrowMatch OMIM:612164 semapv:UnspecifiedMatching +obo:GARD_10430 Dravet syndrome skos:narrowMatch OMIM:615744 semapv:UnspecifiedMatching +obo:GARD_10432 Cardiac arrhythmia, ankyrin-b-related skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_10432 Cardiac arrhythmia, ankyrin-b-related skos:exactMatch OMIM:600919 semapv:UnspecifiedMatching +obo:GARD_10433 Long qt syndrome 5 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_10433 Long qt syndrome 5 skos:exactMatch OMIM:613695 semapv:UnspecifiedMatching +obo:GARD_10434 Long qt syndrome 6 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_10434 Long qt syndrome 6 skos:exactMatch OMIM:613693 semapv:UnspecifiedMatching +obo:GARD_10435 Long qt syndrome 9 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_10435 Long qt syndrome 9 skos:exactMatch OMIM:611818 semapv:UnspecifiedMatching +obo:GARD_10436 Long qt syndrome 10 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_10436 Long qt syndrome 10 skos:exactMatch OMIM:611819 semapv:UnspecifiedMatching +obo:GARD_10437 Long qt syndrome 11 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_10437 Long qt syndrome 11 skos:exactMatch OMIM:611820 semapv:UnspecifiedMatching +obo:GARD_1044 Buschke-Ollendorff syndrome skos:exactMatch Orphanet:1306 semapv:UnspecifiedMatching +obo:GARD_1044 Buschke-Ollendorff syndrome skos:narrowMatch OMIM:166700 semapv:UnspecifiedMatching +obo:GARD_10443 Pediatric multiple sclerosis skos:exactMatch Orphanet:477738 semapv:UnspecifiedMatching +obo:GARD_10445 Transaldolase deficiency skos:exactMatch Orphanet:101028 semapv:UnspecifiedMatching +obo:GARD_10445 Transaldolase deficiency skos:narrowMatch OMIM:606003 semapv:UnspecifiedMatching +obo:GARD_10453 Perry syndrome skos:exactMatch Orphanet:178509 semapv:UnspecifiedMatching +obo:GARD_10453 Perry syndrome skos:narrowMatch OMIM:168605 semapv:UnspecifiedMatching +obo:GARD_10457 Isolated permanent neonatal diabetes mellitus skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching +obo:GARD_10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:606176 semapv:UnspecifiedMatching +obo:GARD_10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618856 semapv:UnspecifiedMatching +obo:GARD_10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618857 semapv:UnspecifiedMatching +obo:GARD_10457 Isolated permanent neonatal diabetes mellitus skos:narrowMatch OMIM:618858 semapv:UnspecifiedMatching +obo:GARD_10460 GCGR-related hyperglucagonemia skos:exactMatch Orphanet:438274 semapv:UnspecifiedMatching +obo:GARD_10460 GCGR-related hyperglucagonemia skos:narrowMatch OMIM:619290 semapv:UnspecifiedMatching +obo:GARD_10467 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch Orphanet:464321 semapv:UnspecifiedMatching +obo:GARD_10469 Spinocerebellar ataxia type 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching +obo:GARD_10469 Spinocerebellar ataxia type 17 skos:narrowMatch OMIM:607136 semapv:UnspecifiedMatching +obo:GARD_10471 Telethonin-related limb-girdle muscular dystrophy R7 skos:exactMatch Orphanet:34514 semapv:UnspecifiedMatching +obo:GARD_10471 Telethonin-related limb-girdle muscular dystrophy R7 skos:narrowMatch OMIM:601954 semapv:UnspecifiedMatching +obo:GARD_10472 L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79314 semapv:UnspecifiedMatching +obo:GARD_10472 L-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:236792 semapv:UnspecifiedMatching +obo:GARD_10474 Spinocerebellar ataxia type 10 skos:exactMatch Orphanet:98761 semapv:UnspecifiedMatching +obo:GARD_10474 Spinocerebellar ataxia type 10 skos:narrowMatch OMIM:603516 semapv:UnspecifiedMatching +obo:GARD_10475 Spinocerebellar ataxia type 11 skos:exactMatch Orphanet:98767 semapv:UnspecifiedMatching +obo:GARD_10475 Spinocerebellar ataxia type 11 skos:narrowMatch OMIM:604432 semapv:UnspecifiedMatching +obo:GARD_10476 Spinocerebellar ataxia type 12 skos:exactMatch Orphanet:98762 semapv:UnspecifiedMatching +obo:GARD_10476 Spinocerebellar ataxia type 12 skos:narrowMatch OMIM:604326 semapv:UnspecifiedMatching +obo:GARD_10477 Spinocerebellar ataxia type 15/16 skos:exactMatch Orphanet:98769 semapv:UnspecifiedMatching +obo:GARD_10477 Spinocerebellar ataxia type 15/16 skos:narrowMatch OMIM:606658 semapv:UnspecifiedMatching +obo:GARD_10480 Spinocerebellar ataxia type 29 skos:exactMatch Orphanet:208513 semapv:UnspecifiedMatching +obo:GARD_10480 Spinocerebellar ataxia type 29 skos:narrowMatch OMIM:117360 semapv:UnspecifiedMatching +obo:GARD_10484 Infantile dystonia-parkinsonism skos:exactMatch Orphanet:238455 semapv:UnspecifiedMatching +obo:GARD_10484 Infantile dystonia-parkinsonism skos:narrowMatch OMIM:613135 semapv:UnspecifiedMatching +obo:GARD_10486 Craniopharyngioma skos:exactMatch Orphanet:54595 semapv:UnspecifiedMatching +obo:GARD_10487 Leber congenital amaurosis 10 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10487 Leber congenital amaurosis 10 skos:exactMatch OMIM:611755 semapv:UnspecifiedMatching +obo:GARD_10488 Leber congenital amaurosis 11 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10488 Leber congenital amaurosis 11 skos:exactMatch OMIM:613837 semapv:UnspecifiedMatching +obo:GARD_10489 Leber congenital amaurosis 12 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10489 Leber congenital amaurosis 12 skos:exactMatch OMIM:610612 semapv:UnspecifiedMatching +obo:GARD_1049 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:exactMatch Orphanet:136 semapv:UnspecifiedMatching +obo:GARD_1049 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy skos:narrowMatch OMIM:125310 semapv:UnspecifiedMatching +obo:GARD_10490 Leber congenital amaurosis 6 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10490 Leber congenital amaurosis 6 skos:exactMatch OMIM:613826 semapv:UnspecifiedMatching +obo:GARD_10491 Langerhans cell sarcoma skos:exactMatch Orphanet:86897 semapv:UnspecifiedMatching +obo:GARD_10493 Aggressive NK-cell leukemia skos:exactMatch Orphanet:86873 semapv:UnspecifiedMatching +obo:GARD_10494 Meconium aspiration syndrome skos:exactMatch Orphanet:70588 semapv:UnspecifiedMatching +obo:GARD_10496 Amyotrophic lateral sclerosis 11 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_10496 Amyotrophic lateral sclerosis 11 skos:exactMatch OMIM:612577 semapv:UnspecifiedMatching +obo:GARD_10498 Amyotrophic lateral sclerosis 9 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_10498 Amyotrophic lateral sclerosis 9 skos:exactMatch OMIM:611895 semapv:UnspecifiedMatching +obo:GARD_10499 Amyotrophic lateral sclerosis 8 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_10499 Amyotrophic lateral sclerosis 8 skos:exactMatch OMIM:608627 semapv:UnspecifiedMatching +obo:GARD_105 Oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch Orphanet:2719 semapv:UnspecifiedMatching +obo:GARD_105 Oculocerebral hypopigmentation syndrome, Cross type skos:narrowMatch OMIM:257800 semapv:UnspecifiedMatching +obo:GARD_10500 Amyotrophic lateral sclerosis 7 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_10500 Amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:608031 semapv:UnspecifiedMatching +obo:GARD_10501 Amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_10501 Amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:606640 semapv:UnspecifiedMatching +obo:GARD_10502 Amyotrophic lateral sclerosis type 4 skos:exactMatch Orphanet:357043 semapv:UnspecifiedMatching +obo:GARD_10502 Amyotrophic lateral sclerosis type 4 skos:narrowMatch OMIM:602433 semapv:UnspecifiedMatching +obo:GARD_10504 Craniorachischisis skos:exactMatch Orphanet:63260 semapv:UnspecifiedMatching +obo:GARD_10505 Cryptophthalmia skos:exactMatch Orphanet:98562 semapv:UnspecifiedMatching +obo:GARD_10506 Iniencephaly skos:exactMatch Orphanet:63259 semapv:UnspecifiedMatching +obo:GARD_10508 Bartter syndrome type 4 skos:exactMatch Orphanet:89938 semapv:UnspecifiedMatching +obo:GARD_10508 Bartter syndrome type 4 skos:narrowMatch OMIM:602522 semapv:UnspecifiedMatching +obo:GARD_10508 Bartter syndrome type 4 skos:narrowMatch OMIM:613090 semapv:UnspecifiedMatching +obo:GARD_10509 Acquired partial lipodystrophy skos:exactMatch Orphanet:79087 semapv:UnspecifiedMatching +obo:GARD_10509 Acquired partial lipodystrophy skos:narrowMatch OMIM:608709 semapv:UnspecifiedMatching +obo:GARD_1051 Caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching +obo:GARD_1051 Caffey disease skos:narrowMatch OMIM:114000 semapv:UnspecifiedMatching +obo:GARD_10510 Juvenile Huntington disease skos:exactMatch Orphanet:248111 semapv:UnspecifiedMatching +obo:GARD_10510 Juvenile Huntington disease skos:narrowMatch OMIM:143100 semapv:UnspecifiedMatching +obo:GARD_10511 Sorsby fundus dystrophy skos:broadMatch Orphanet:59181 semapv:UnspecifiedMatching +obo:GARD_10511 Sorsby fundus dystrophy skos:exactMatch OMIM:136900 semapv:UnspecifiedMatching +obo:GARD_10513 Spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch Orphanet:171866 semapv:UnspecifiedMatching +obo:GARD_10513 Spondyloepimetaphyseal dysplasia, aggrecan type skos:narrowMatch OMIM:612813 semapv:UnspecifiedMatching +obo:GARD_10514 EAST syndrome skos:exactMatch Orphanet:199343 semapv:UnspecifiedMatching +obo:GARD_10514 EAST syndrome skos:narrowMatch OMIM:612780 semapv:UnspecifiedMatching +obo:GARD_10515 Congenital tracheomalacia skos:exactMatch Orphanet:95430 semapv:UnspecifiedMatching +obo:GARD_10516 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch Orphanet:210115 semapv:UnspecifiedMatching +obo:GARD_10516 Sterile multifocal osteomyelitis with periostitis and pustulosis skos:narrowMatch OMIM:612852 semapv:UnspecifiedMatching +obo:GARD_10517 Axenfeld-rieger syndrome, type 2 skos:broadMatch Orphanet:782 semapv:UnspecifiedMatching +obo:GARD_10517 Axenfeld-rieger syndrome, type 2 skos:exactMatch OMIM:601499 semapv:UnspecifiedMatching +obo:GARD_10518 Orofaciodigital syndrome type 3 skos:exactMatch Orphanet:2752 semapv:UnspecifiedMatching +obo:GARD_10518 Orofaciodigital syndrome type 3 skos:narrowMatch OMIM:258850 semapv:UnspecifiedMatching +obo:GARD_1052 Cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch Orphanet:1375 semapv:UnspecifiedMatching +obo:GARD_1052 Cataract-hypertrichosis-intellectual disability syndrome skos:narrowMatch OMIM:211770 semapv:UnspecifiedMatching +obo:GARD_10520 Orofaciodigital syndrome type 9 skos:exactMatch Orphanet:141007 semapv:UnspecifiedMatching +obo:GARD_10520 Orofaciodigital syndrome type 9 skos:narrowMatch OMIM:258865 semapv:UnspecifiedMatching +obo:GARD_10522 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching +obo:GARD_10522 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:narrowMatch OMIM:613076 semapv:UnspecifiedMatching +obo:GARD_10523 Combined immunodeficiency due to STIM1 deficiency skos:exactMatch Orphanet:317430 semapv:UnspecifiedMatching +obo:GARD_10523 Combined immunodeficiency due to STIM1 deficiency skos:narrowMatch OMIM:612783 semapv:UnspecifiedMatching +obo:GARD_10524 Combined immunodeficiency due to ORAI1 deficiency skos:exactMatch Orphanet:317428 semapv:UnspecifiedMatching +obo:GARD_10524 Combined immunodeficiency due to ORAI1 deficiency skos:narrowMatch OMIM:612782 semapv:UnspecifiedMatching +obo:GARD_10525 15q11.2 microdeletion syndrome skos:exactMatch Orphanet:261183 semapv:UnspecifiedMatching +obo:GARD_10525 15q11.2 microdeletion syndrome skos:narrowMatch OMIM:615656 semapv:UnspecifiedMatching +obo:GARD_10526 Ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch Orphanet:69083 semapv:UnspecifiedMatching +obo:GARD_10526 Ectodermal dysplasia with natal teeth, Turnpenny type skos:narrowMatch OMIM:601345 semapv:UnspecifiedMatching +obo:GARD_10528 Gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch Orphanet:2025 semapv:UnspecifiedMatching +obo:GARD_10528 Gingival fibromatosis-facial dysmorphism syndrome skos:narrowMatch OMIM:228560 semapv:UnspecifiedMatching +obo:GARD_10529 Myofibrillar myopathy skos:exactMatch Orphanet:593 semapv:UnspecifiedMatching +obo:GARD_1053 Limited cutaneous systemic sclerosis skos:exactMatch Orphanet:220402 semapv:UnspecifiedMatching +obo:GARD_1053 Limited cutaneous systemic sclerosis skos:narrowMatch OMIM:181750 semapv:UnspecifiedMatching +obo:GARD_10533 X-linked dystonia-parkinsonism skos:exactMatch Orphanet:53351 semapv:UnspecifiedMatching +obo:GARD_10533 X-linked dystonia-parkinsonism skos:narrowMatch OMIM:314250 semapv:UnspecifiedMatching +obo:GARD_10536 Primary dystonia, DYT17 type skos:exactMatch Orphanet:370103 semapv:UnspecifiedMatching +obo:GARD_10536 Primary dystonia, DYT17 type skos:narrowMatch OMIM:612406 semapv:UnspecifiedMatching +obo:GARD_10537 Primary dystonia, DYT13 type skos:exactMatch Orphanet:98807 semapv:UnspecifiedMatching +obo:GARD_10537 Primary dystonia, DYT13 type skos:narrowMatch OMIM:607671 semapv:UnspecifiedMatching +obo:GARD_10538 Autosomal recessive spastic paraplegia type 35 skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching +obo:GARD_10538 Autosomal recessive spastic paraplegia type 35 skos:narrowMatch OMIM:612319 semapv:UnspecifiedMatching +obo:GARD_10539 Dystonia 16 skos:exactMatch Orphanet:210571 semapv:UnspecifiedMatching +obo:GARD_10539 Dystonia 16 skos:narrowMatch OMIM:612067 semapv:UnspecifiedMatching +obo:GARD_10541 Paroxysmal exertion-induced dyskinesia skos:exactMatch Orphanet:98811 semapv:UnspecifiedMatching +obo:GARD_10541 Paroxysmal exertion-induced dyskinesia skos:narrowMatch OMIM:612126 semapv:UnspecifiedMatching +obo:GARD_10544 Paragangliomas 2 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_10544 Paragangliomas 2 skos:exactMatch OMIM:601650 semapv:UnspecifiedMatching +obo:GARD_10545 Paragangliomas 3 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_10545 Paragangliomas 3 skos:exactMatch OMIM:605373 semapv:UnspecifiedMatching +obo:GARD_10546 Paragangliomas 4 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_10546 Paragangliomas 4 skos:exactMatch OMIM:115310 semapv:UnspecifiedMatching +obo:GARD_10556 CD4+/CD56+ hematodermic neoplasm skos:exactMatch Orphanet:86870 semapv:UnspecifiedMatching +obo:GARD_10557 22q11.2 duplication syndrome skos:exactMatch Orphanet:1727 semapv:UnspecifiedMatching +obo:GARD_10557 22q11.2 duplication syndrome skos:narrowMatch OMIM:608363 semapv:UnspecifiedMatching +obo:GARD_10559 Primary interstitial lung disease specific to childhood skos:exactMatch Orphanet:264665 semapv:UnspecifiedMatching +obo:GARD_10560 AA amyloidosis skos:exactMatch Orphanet:85445 semapv:UnspecifiedMatching +obo:GARD_10562 Nodular cutaneous amyloidosis skos:exactMatch Orphanet:137810 semapv:UnspecifiedMatching +obo:GARD_1057 Calpain-3-related limb-girdle muscular dystrophy R1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching +obo:GARD_1057 Calpain-3-related limb-girdle muscular dystrophy R1 skos:narrowMatch OMIM:253600 semapv:UnspecifiedMatching +obo:GARD_1057 Calpain-3-related limb-girdle muscular dystrophy R1 skos:narrowMatch OMIM:618129 semapv:UnspecifiedMatching +obo:GARD_10570 Bartsocas-papas syndrome 1 skos:broadMatch Orphanet:1234 semapv:UnspecifiedMatching +obo:GARD_10570 Bartsocas-papas syndrome 1 skos:exactMatch OMIM:263650 semapv:UnspecifiedMatching +obo:GARD_10572 Christianson syndrome skos:exactMatch Orphanet:85278 semapv:UnspecifiedMatching +obo:GARD_10572 Christianson syndrome skos:narrowMatch OMIM:300243 semapv:UnspecifiedMatching +obo:GARD_10573 Camptodactyly syndrome, Guadalajara type 3 skos:exactMatch Orphanet:488434 semapv:UnspecifiedMatching +obo:GARD_10573 Camptodactyly syndrome, Guadalajara type 3 skos:narrowMatch OMIM:611929 semapv:UnspecifiedMatching +obo:GARD_10574 Åland Islands eye disease skos:exactMatch Orphanet:178333 semapv:UnspecifiedMatching +obo:GARD_10574 Åland Islands eye disease skos:narrowMatch OMIM:300600 semapv:UnspecifiedMatching +obo:GARD_10578 Hyper-IgM syndrome type 2 skos:exactMatch Orphanet:101089 semapv:UnspecifiedMatching +obo:GARD_10578 Hyper-IgM syndrome type 2 skos:narrowMatch OMIM:605258 semapv:UnspecifiedMatching +obo:GARD_10579 Hyper-IgM syndrome type 3 skos:exactMatch Orphanet:101090 semapv:UnspecifiedMatching +obo:GARD_10579 Hyper-IgM syndrome type 3 skos:narrowMatch OMIM:606843 semapv:UnspecifiedMatching +obo:GARD_1058 X-linked calvarial hyperostosis skos:exactMatch Orphanet:391327 semapv:UnspecifiedMatching +obo:GARD_1058 X-linked calvarial hyperostosis skos:narrowMatch OMIM:302030 semapv:UnspecifiedMatching +obo:GARD_10580 Hyper-IgM syndrome type 4 skos:exactMatch Orphanet:101091 semapv:UnspecifiedMatching +obo:GARD_10580 Hyper-IgM syndrome type 4 skos:narrowMatch OMIM:608184 semapv:UnspecifiedMatching +obo:GARD_10581 Hyper-IgM syndrome type 5 skos:exactMatch Orphanet:101092 semapv:UnspecifiedMatching +obo:GARD_10581 Hyper-IgM syndrome type 5 skos:narrowMatch OMIM:608106 semapv:UnspecifiedMatching +obo:GARD_10582 Zechi-Ceide syndrome skos:exactMatch Orphanet:217017 semapv:UnspecifiedMatching +obo:GARD_10582 Zechi-Ceide syndrome skos:narrowMatch OMIM:612916 semapv:UnspecifiedMatching +obo:GARD_10583 Neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch Orphanet:59303 semapv:UnspecifiedMatching +obo:GARD_10583 Neonatal ichthyosis-sclerosing cholangitis syndrome skos:narrowMatch OMIM:607626 semapv:UnspecifiedMatching +obo:GARD_10584 Mesomelic dysplasia, Savarirayan type skos:exactMatch Orphanet:85170 semapv:UnspecifiedMatching +obo:GARD_10584 Mesomelic dysplasia, Savarirayan type skos:narrowMatch OMIM:605274 semapv:UnspecifiedMatching +obo:GARD_10585 Chronic neutrophilic leukemia skos:exactMatch Orphanet:86829 semapv:UnspecifiedMatching +obo:GARD_10586 Loeys-dietz syndrome 2 skos:broadMatch Orphanet:60030 semapv:UnspecifiedMatching +obo:GARD_10586 Loeys-dietz syndrome 2 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_10586 Loeys-dietz syndrome 2 skos:exactMatch OMIM:610168 semapv:UnspecifiedMatching +obo:GARD_10587 Adult-onset autosomal dominant leukodystrophy skos:exactMatch Orphanet:99027 semapv:UnspecifiedMatching +obo:GARD_10587 Adult-onset autosomal dominant leukodystrophy skos:narrowMatch OMIM:169500 semapv:UnspecifiedMatching +obo:GARD_10588 Loeys-dietz syndrome 4 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_10588 Loeys-dietz syndrome 4 skos:exactMatch OMIM:614816 semapv:UnspecifiedMatching +obo:GARD_10590 Mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch Orphanet:157801 semapv:UnspecifiedMatching +obo:GARD_10590 Mesoaxial synostotic syndactyly with phalangeal reduction skos:narrowMatch OMIM:609432 semapv:UnspecifiedMatching +obo:GARD_10591 1q21.1 microduplication syndrome skos:exactMatch Orphanet:250994 semapv:UnspecifiedMatching +obo:GARD_10591 1q21.1 microduplication syndrome skos:narrowMatch OMIM:612475 semapv:UnspecifiedMatching +obo:GARD_10592 19q13.11 microdeletion syndrome skos:exactMatch Orphanet:217346 semapv:UnspecifiedMatching +obo:GARD_10592 19q13.11 microdeletion syndrome skos:narrowMatch OMIM:613026 semapv:UnspecifiedMatching +obo:GARD_10593 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch Orphanet:217371 semapv:UnspecifiedMatching +obo:GARD_10593 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:narrowMatch OMIM:613070 semapv:UnspecifiedMatching +obo:GARD_10594 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching +obo:GARD_10594 Neurodegenerative syndrome due to cerebral folate transport deficiency skos:narrowMatch OMIM:613068 semapv:UnspecifiedMatching +obo:GARD_10595 BNAR syndrome skos:exactMatch Orphanet:217266 semapv:UnspecifiedMatching +obo:GARD_10595 BNAR syndrome skos:narrowMatch OMIM:608980 semapv:UnspecifiedMatching +obo:GARD_10597 Complete androgen insensitivity syndrome skos:exactMatch Orphanet:99429 semapv:UnspecifiedMatching +obo:GARD_10597 Complete androgen insensitivity syndrome skos:narrowMatch OMIM:300068 semapv:UnspecifiedMatching +obo:GARD_106 Oculocerebrocutaneous syndrome skos:exactMatch Orphanet:1647 semapv:UnspecifiedMatching +obo:GARD_106 Oculocerebrocutaneous syndrome skos:narrowMatch OMIM:164180 semapv:UnspecifiedMatching +obo:GARD_10601 Pituitary hormone deficiency, combined 1 skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +obo:GARD_10601 Pituitary hormone deficiency, combined 1 skos:relatedMatch OMIM:613038 semapv:UnspecifiedMatching +obo:GARD_10602 Combined pituitary hormone deficiencies, genetic forms skos:exactMatch Orphanet:95494 semapv:UnspecifiedMatching +obo:GARD_10602 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:182230 semapv:UnspecifiedMatching +obo:GARD_10602 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:262600 semapv:UnspecifiedMatching +obo:GARD_10602 Combined pituitary hormone deficiencies, genetic forms skos:narrowMatch OMIM:613986 semapv:UnspecifiedMatching +obo:GARD_10603 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome skos:exactMatch Orphanet:231720 semapv:UnspecifiedMatching +obo:GARD_10603 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome skos:narrowMatch OMIM:221750 semapv:UnspecifiedMatching +obo:GARD_10604 Short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch Orphanet:85442 semapv:UnspecifiedMatching +obo:GARD_10604 Short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:narrowMatch OMIM:262700 semapv:UnspecifiedMatching +obo:GARD_10605 Acrocapitofemoral dysplasia skos:exactMatch Orphanet:63446 semapv:UnspecifiedMatching +obo:GARD_10605 Acrocapitofemoral dysplasia skos:narrowMatch OMIM:607778 semapv:UnspecifiedMatching +obo:GARD_10608 Atelosteogenesis type III skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching +obo:GARD_10608 Atelosteogenesis type III skos:narrowMatch OMIM:108721 semapv:UnspecifiedMatching +obo:GARD_10609 Growth delay due to insulin-like growth factor I resistance skos:exactMatch Orphanet:73273 semapv:UnspecifiedMatching +obo:GARD_10609 Growth delay due to insulin-like growth factor I resistance skos:narrowMatch OMIM:270450 semapv:UnspecifiedMatching +obo:GARD_1061 Campomelia, Cumming type skos:exactMatch Orphanet:1318 semapv:UnspecifiedMatching +obo:GARD_1061 Campomelia, Cumming type skos:narrowMatch OMIM:211890 semapv:UnspecifiedMatching +obo:GARD_10611 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch Orphanet:156728 semapv:UnspecifiedMatching +obo:GARD_10611 Spondyloepimetaphyseal dysplasia, matrilin-3 type skos:narrowMatch OMIM:608728 semapv:UnspecifiedMatching +obo:GARD_10612 Thoracomelic dysplasia skos:exactMatch Orphanet:1803 semapv:UnspecifiedMatching +obo:GARD_10612 Thoracomelic dysplasia skos:narrowMatch OMIM:273740 semapv:UnspecifiedMatching +obo:GARD_10614 Adrenomyeloneuropathy skos:exactMatch Orphanet:139399 semapv:UnspecifiedMatching +obo:GARD_10614 Adrenomyeloneuropathy skos:narrowMatch OMIM:300100 semapv:UnspecifiedMatching +obo:GARD_10615 Telangiectasia, hereditary hemorrhagic, type 4 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +obo:GARD_10615 Telangiectasia, hereditary hemorrhagic, type 4 skos:exactMatch OMIM:610655 semapv:UnspecifiedMatching +obo:GARD_10616 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch Orphanet:93358 semapv:UnspecifiedMatching +obo:GARD_10616 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:narrowMatch OMIM:271665 semapv:UnspecifiedMatching +obo:GARD_10617 Congenital cystic eye skos:exactMatch Orphanet:519384 semapv:UnspecifiedMatching +obo:GARD_10618 Spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch Orphanet:93356 semapv:UnspecifiedMatching +obo:GARD_10618 Spondyloepimetaphyseal dysplasia, Missouri type skos:narrowMatch OMIM:602111 semapv:UnspecifiedMatching +obo:GARD_10619 Osteogenesis imperfecta, type ix skos:broadMatch Orphanet:216804 semapv:UnspecifiedMatching +obo:GARD_10619 Osteogenesis imperfecta, type ix skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_10619 Osteogenesis imperfecta, type ix skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_10619 Osteogenesis imperfecta, type ix skos:exactMatch OMIM:259440 semapv:UnspecifiedMatching +obo:GARD_1062 Camptobrachydactyly skos:exactMatch Orphanet:1319 semapv:UnspecifiedMatching +obo:GARD_1062 Camptobrachydactyly skos:narrowMatch OMIM:114150 semapv:UnspecifiedMatching +obo:GARD_10620 Smith-McCort dysplasia skos:exactMatch Orphanet:178355 semapv:UnspecifiedMatching +obo:GARD_10620 Smith-McCort dysplasia skos:narrowMatch OMIM:607326 semapv:UnspecifiedMatching +obo:GARD_10620 Smith-McCort dysplasia skos:narrowMatch OMIM:615222 semapv:UnspecifiedMatching +obo:GARD_10623 Cleidocranial dysplasia, recessive form skos:broadMatch Orphanet:1452 semapv:UnspecifiedMatching +obo:GARD_10623 Cleidocranial dysplasia, recessive form skos:exactMatch OMIM:216330 semapv:UnspecifiedMatching +obo:GARD_10624 Spondyloepiphyseal dysplasia tarda skos:exactMatch Orphanet:93284 semapv:UnspecifiedMatching +obo:GARD_10624 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:184100 semapv:UnspecifiedMatching +obo:GARD_10624 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:271600 semapv:UnspecifiedMatching +obo:GARD_10624 Spondyloepiphyseal dysplasia tarda skos:narrowMatch OMIM:313400 semapv:UnspecifiedMatching +obo:GARD_10625 Complement component 8 deficiency, type ii skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_10625 Complement component 8 deficiency, type ii skos:exactMatch OMIM:613789 semapv:UnspecifiedMatching +obo:GARD_10626 Complement component 8 deficiency, type i skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_10626 Complement component 8 deficiency, type i skos:exactMatch OMIM:613790 semapv:UnspecifiedMatching +obo:GARD_10627 Growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch Orphanet:73272 semapv:UnspecifiedMatching +obo:GARD_10627 Growth delay due to insulin-like growth factor type 1 deficiency skos:narrowMatch OMIM:608747 semapv:UnspecifiedMatching +obo:GARD_10629 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:exactMatch Orphanet:163654 semapv:UnspecifiedMatching +obo:GARD_10629 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome skos:narrowMatch OMIM:611717 semapv:UnspecifiedMatching +obo:GARD_1063 Idiopathic camptocormia skos:exactMatch Orphanet:1320 semapv:UnspecifiedMatching +obo:GARD_10630 Congenital tufting enteropathy skos:exactMatch Orphanet:92050 semapv:UnspecifiedMatching +obo:GARD_10630 Congenital tufting enteropathy skos:narrowMatch OMIM:613217 semapv:UnspecifiedMatching +obo:GARD_10631 Pleomorphic xanthoastrocytoma skos:exactMatch Orphanet:251607 semapv:UnspecifiedMatching +obo:GARD_10632 Subependymal giant cell astrocytoma skos:exactMatch Orphanet:251618 semapv:UnspecifiedMatching +obo:GARD_10633 Myxopapillary ependymoma skos:exactMatch Orphanet:251643 semapv:UnspecifiedMatching +obo:GARD_10634 Anaplastic ependymoma skos:exactMatch Orphanet:251646 semapv:UnspecifiedMatching +obo:GARD_10635 Astroblastoma skos:exactMatch Orphanet:251679 semapv:UnspecifiedMatching +obo:GARD_10637 Anaplastic oligoastrocytoma skos:exactMatch Orphanet:251663 semapv:UnspecifiedMatching +obo:GARD_10638 Gangliocytoma skos:exactMatch Orphanet:251937 semapv:UnspecifiedMatching +obo:GARD_10639 Anaplastic ganglioglioma skos:exactMatch Orphanet:251957 semapv:UnspecifiedMatching +obo:GARD_1064 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:1321 semapv:UnspecifiedMatching +obo:GARD_1064 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome skos:narrowMatch OMIM:211930 semapv:UnspecifiedMatching +obo:GARD_10640 Dysembryoplastic neuroepithelial tumor skos:exactMatch Orphanet:251946 semapv:UnspecifiedMatching +obo:GARD_10641 Central neurocytoma skos:exactMatch Orphanet:73256 semapv:UnspecifiedMatching +obo:GARD_10642 Cerebellar liponeurocytoma skos:exactMatch Orphanet:251931 semapv:UnspecifiedMatching +obo:GARD_10643 Carney-Stratakis syndrome skos:exactMatch Orphanet:97286 semapv:UnspecifiedMatching +obo:GARD_10643 Carney-Stratakis syndrome skos:narrowMatch OMIM:606864 semapv:UnspecifiedMatching +obo:GARD_10644 Pineal parenchymal tumor of intermediate differenciation skos:exactMatch Orphanet:251919 semapv:UnspecifiedMatching +obo:GARD_10645 Dent disease type 2 skos:exactMatch Orphanet:93623 semapv:UnspecifiedMatching +obo:GARD_10645 Dent disease type 2 skos:narrowMatch OMIM:300555 semapv:UnspecifiedMatching +obo:GARD_10647 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch Orphanet:85167 semapv:UnspecifiedMatching +obo:GARD_10647 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:narrowMatch OMIM:608940 semapv:UnspecifiedMatching +obo:GARD_10648 Retinal cone dystrophy 3a skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +obo:GARD_10648 Retinal cone dystrophy 3a skos:exactMatch OMIM:610024 semapv:UnspecifiedMatching +obo:GARD_10649 Cone dystrophy with supernormal rod response skos:exactMatch Orphanet:209932 semapv:UnspecifiedMatching +obo:GARD_10649 Cone dystrophy with supernormal rod response skos:narrowMatch OMIM:610356 semapv:UnspecifiedMatching +obo:GARD_10650 Retinal cone dystrophy 4 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10650 Retinal cone dystrophy 4 skos:exactMatch OMIM:610478 semapv:UnspecifiedMatching +obo:GARD_10651 Cone-rod dystrophy 1 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10651 Cone-rod dystrophy 1 skos:exactMatch OMIM:600624 semapv:UnspecifiedMatching +obo:GARD_10652 Cone-rod dystrophy, x-linked, 1 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10652 Cone-rod dystrophy, x-linked, 1 skos:exactMatch OMIM:304020 semapv:UnspecifiedMatching +obo:GARD_10653 Cone-rod dystrophy 3 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10653 Cone-rod dystrophy 3 skos:exactMatch OMIM:604116 semapv:UnspecifiedMatching +obo:GARD_10654 Cone-rod dystrophy, x-linked, 3 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10654 Cone-rod dystrophy, x-linked, 3 skos:exactMatch OMIM:300476 semapv:UnspecifiedMatching +obo:GARD_10655 Cone-rod dystrophy 5 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10655 Cone-rod dystrophy 5 skos:exactMatch OMIM:600977 semapv:UnspecifiedMatching +obo:GARD_10656 Cone-rod dystrophy 6 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10656 Cone-rod dystrophy 6 skos:exactMatch OMIM:601777 semapv:UnspecifiedMatching +obo:GARD_10657 Maturity-onset diabetes of the young, type 2 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10657 Maturity-onset diabetes of the young, type 2 skos:exactMatch OMIM:125851 semapv:UnspecifiedMatching +obo:GARD_10658 Maturity-onset diabetes of the young, type 3 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10658 Maturity-onset diabetes of the young, type 3 skos:exactMatch OMIM:600496 semapv:UnspecifiedMatching +obo:GARD_10659 Maturity-onset diabetes of the young, type 4 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10659 Maturity-onset diabetes of the young, type 4 skos:exactMatch OMIM:606392 semapv:UnspecifiedMatching +obo:GARD_10660 Maturity-onset diabetes of the young, type 6 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10660 Maturity-onset diabetes of the young, type 6 skos:exactMatch OMIM:606394 semapv:UnspecifiedMatching +obo:GARD_10661 Maturity-onset diabetes of the young, type 7 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10661 Maturity-onset diabetes of the young, type 7 skos:exactMatch OMIM:610508 semapv:UnspecifiedMatching +obo:GARD_10662 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10662 Maturity-onset diabetes of the young, type 8, with exocrine dysfunction skos:exactMatch OMIM:609812 semapv:UnspecifiedMatching +obo:GARD_10663 Maturity-onset diabetes of the young, type 9 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_10663 Maturity-onset diabetes of the young, type 9 skos:exactMatch OMIM:612225 semapv:UnspecifiedMatching +obo:GARD_10664 Baroreflex failure skos:exactMatch Orphanet:443084 semapv:UnspecifiedMatching +obo:GARD_10667 Autosomal dominant focal dystonia, DYT25 type skos:exactMatch Orphanet:329466 semapv:UnspecifiedMatching +obo:GARD_10667 Autosomal dominant focal dystonia, DYT25 type skos:narrowMatch OMIM:615073 semapv:UnspecifiedMatching +obo:GARD_1067 Camptodactyly syndrome, Guadalajara type 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching +obo:GARD_1067 Camptodactyly syndrome, Guadalajara type 1 skos:narrowMatch OMIM:211910 semapv:UnspecifiedMatching +obo:GARD_10670 Glycoproteinosis skos:exactMatch Orphanet:309279 semapv:UnspecifiedMatching +obo:GARD_10675 Fetal Gaucher disease skos:exactMatch Orphanet:85212 semapv:UnspecifiedMatching +obo:GARD_10675 Fetal Gaucher disease skos:narrowMatch OMIM:608013 semapv:UnspecifiedMatching +obo:GARD_10679 UMOD-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:88950 semapv:UnspecifiedMatching +obo:GARD_10679 UMOD-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:162000 semapv:UnspecifiedMatching +obo:GARD_1068 Camptodactyly syndrome, Guadalajara type 2 skos:exactMatch Orphanet:1326 semapv:UnspecifiedMatching +obo:GARD_1068 Camptodactyly syndrome, Guadalajara type 2 skos:narrowMatch OMIM:211920 semapv:UnspecifiedMatching +obo:GARD_10680 Pseudohypoparathyroidism type 1B skos:exactMatch Orphanet:94089 semapv:UnspecifiedMatching +obo:GARD_10680 Pseudohypoparathyroidism type 1B skos:narrowMatch OMIM:603233 semapv:UnspecifiedMatching +obo:GARD_10681 Pseudohypoparathyroidism type 1C skos:exactMatch Orphanet:79444 semapv:UnspecifiedMatching +obo:GARD_10681 Pseudohypoparathyroidism type 1C skos:narrowMatch OMIM:612462 semapv:UnspecifiedMatching +obo:GARD_10682 Pseudohypoparathyroidism type 2 skos:exactMatch Orphanet:94090 semapv:UnspecifiedMatching +obo:GARD_10682 Pseudohypoparathyroidism type 2 skos:narrowMatch OMIM:203330 semapv:UnspecifiedMatching +obo:GARD_10684 Primary lateral sclerosis skos:exactMatch Orphanet:35689 semapv:UnspecifiedMatching +obo:GARD_10684 Primary lateral sclerosis skos:narrowMatch OMIM:611637 semapv:UnspecifiedMatching +obo:GARD_10686 Neuroferritinopathy skos:exactMatch Orphanet:157846 semapv:UnspecifiedMatching +obo:GARD_10686 Neuroferritinopathy skos:narrowMatch OMIM:606159 semapv:UnspecifiedMatching +obo:GARD_10688 Neurodegeneration with brain iron accumulation 2b skos:broadMatch Orphanet:35069 semapv:UnspecifiedMatching +obo:GARD_10688 Neurodegeneration with brain iron accumulation 2b skos:exactMatch OMIM:610217 semapv:UnspecifiedMatching +obo:GARD_1069 Camptodactyly-taurinuria syndrome skos:exactMatch Orphanet:1325 semapv:UnspecifiedMatching +obo:GARD_10691 Duane retraction syndrome 3 with or without deafness skos:broadMatch Orphanet:233 semapv:UnspecifiedMatching +obo:GARD_10691 Duane retraction syndrome 3 with or without deafness skos:exactMatch OMIM:617041 semapv:UnspecifiedMatching +obo:GARD_10692 Orofaciodigital syndrome skos:exactMatch Orphanet:140997 semapv:UnspecifiedMatching +obo:GARD_10693 Orofaciodigital syndrome type 12 skos:exactMatch Orphanet:141327 semapv:UnspecifiedMatching +obo:GARD_10694 Orofaciodigital syndrome type 13 skos:exactMatch Orphanet:141330 semapv:UnspecifiedMatching +obo:GARD_10695 Atrial septal defect, ostium primum type skos:exactMatch Orphanet:99106 semapv:UnspecifiedMatching +obo:GARD_10696 Atrial septal defect, sinus venosus type skos:exactMatch Orphanet:99105 semapv:UnspecifiedMatching +obo:GARD_10697 Atrial septal defect, coronary sinus type skos:exactMatch Orphanet:99104 semapv:UnspecifiedMatching +obo:GARD_10698 Noonan syndrome 2 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_10698 Noonan syndrome 2 skos:exactMatch OMIM:605275 semapv:UnspecifiedMatching +obo:GARD_10699 Noonan syndrome 4 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_10699 Noonan syndrome 4 skos:exactMatch OMIM:610733 semapv:UnspecifiedMatching +obo:GARD_10700 Noonan syndrome 5 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_10700 Noonan syndrome 5 skos:exactMatch OMIM:611553 semapv:UnspecifiedMatching +obo:GARD_10701 Noonan syndrome 6 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_10701 Noonan syndrome 6 skos:exactMatch OMIM:613224 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:exactMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:607596 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:614678 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:616081 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:618065 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:619303 semapv:UnspecifiedMatching +obo:GARD_10704 Pontocerebellar hypoplasia type 1 skos:narrowMatch OMIM:619304 semapv:UnspecifiedMatching +obo:GARD_10705 Pontocerebellar hypoplasia type 2 skos:exactMatch Orphanet:2524 semapv:UnspecifiedMatching +obo:GARD_10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:277470 semapv:UnspecifiedMatching +obo:GARD_10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:612389 semapv:UnspecifiedMatching +obo:GARD_10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:612390 semapv:UnspecifiedMatching +obo:GARD_10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:613811 semapv:UnspecifiedMatching +obo:GARD_10705 Pontocerebellar hypoplasia type 2 skos:narrowMatch OMIM:617026 semapv:UnspecifiedMatching +obo:GARD_10706 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:exactMatch Orphanet:309854 semapv:UnspecifiedMatching +obo:GARD_10706 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome skos:narrowMatch OMIM:613280 semapv:UnspecifiedMatching +obo:GARD_10707 Deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch Orphanet:90024 semapv:UnspecifiedMatching +obo:GARD_10707 Deafness with labyrinthine aplasia, microtia, and microdontia skos:narrowMatch OMIM:610706 semapv:UnspecifiedMatching +obo:GARD_10708 Pontocerebellar hypoplasia type 3 skos:exactMatch Orphanet:97249 semapv:UnspecifiedMatching +obo:GARD_10708 Pontocerebellar hypoplasia type 3 skos:narrowMatch OMIM:608027 semapv:UnspecifiedMatching +obo:GARD_1071 Camptomelic syndrome, long-limb type skos:broadMatch Orphanet:140 semapv:UnspecifiedMatching +obo:GARD_1071 Camptomelic syndrome, long-limb type skos:exactMatch OMIM:211990 semapv:UnspecifiedMatching +obo:GARD_10710 Pontocerebellar hypoplasia type 6 skos:exactMatch Orphanet:166073 semapv:UnspecifiedMatching +obo:GARD_10710 Pontocerebellar hypoplasia type 6 skos:narrowMatch OMIM:611523 semapv:UnspecifiedMatching +obo:GARD_10711 Genetic peripheral neuropathy skos:exactMatch Orphanet:98497 semapv:UnspecifiedMatching +obo:GARD_10713 Pudendal neuralgia skos:exactMatch Orphanet:60039 semapv:UnspecifiedMatching +obo:GARD_10714 Legius syndrome skos:exactMatch Orphanet:137605 semapv:UnspecifiedMatching +obo:GARD_10714 Legius syndrome skos:narrowMatch OMIM:611431 semapv:UnspecifiedMatching +obo:GARD_10716 HSD10 disease skos:exactMatch Orphanet:391417 semapv:UnspecifiedMatching +obo:GARD_10716 HSD10 disease skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +obo:GARD_10719 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch Orphanet:2701 semapv:UnspecifiedMatching +obo:GARD_10719 Noonan syndrome-like disorder with loose anagen hair skos:narrowMatch OMIM:607721 semapv:UnspecifiedMatching +obo:GARD_10719 Noonan syndrome-like disorder with loose anagen hair skos:narrowMatch OMIM:617506 semapv:UnspecifiedMatching +obo:GARD_1072 Camurati-Engelmann disease skos:exactMatch Orphanet:1328 semapv:UnspecifiedMatching +obo:GARD_1072 Camurati-Engelmann disease skos:narrowMatch OMIM:131300 semapv:UnspecifiedMatching +obo:GARD_10726 Spondylocostal dysostosis 1, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +obo:GARD_10726 Spondylocostal dysostosis 1, autosomal recessive skos:exactMatch OMIM:277300 semapv:UnspecifiedMatching +obo:GARD_10727 Koolen-De Vries syndrome skos:exactMatch Orphanet:96169 semapv:UnspecifiedMatching +obo:GARD_10727 Koolen-De Vries syndrome skos:narrowMatch OMIM:610443 semapv:UnspecifiedMatching +obo:GARD_10728 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:exactMatch Orphanet:439854 semapv:UnspecifiedMatching +obo:GARD_10728 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease skos:narrowMatch OMIM:261740 semapv:UnspecifiedMatching +obo:GARD_10729 Chronic visceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:77293 semapv:UnspecifiedMatching +obo:GARD_10729 Chronic visceral acid sphingomyelinase deficiency skos:narrowMatch OMIM:607616 semapv:UnspecifiedMatching +obo:GARD_10730 Pyridoxal phosphate-responsive seizures skos:exactMatch Orphanet:79096 semapv:UnspecifiedMatching +obo:GARD_10730 Pyridoxal phosphate-responsive seizures skos:narrowMatch OMIM:610090 semapv:UnspecifiedMatching +obo:GARD_10731 McLeod neuroacanthocytosis syndrome skos:exactMatch Orphanet:59306 semapv:UnspecifiedMatching +obo:GARD_10731 McLeod neuroacanthocytosis syndrome skos:narrowMatch OMIM:300842 semapv:UnspecifiedMatching +obo:GARD_10732 Leukoencephalopathy with calcifications and cysts skos:exactMatch Orphanet:542310 semapv:UnspecifiedMatching +obo:GARD_10732 Leukoencephalopathy with calcifications and cysts skos:narrowMatch OMIM:614561 semapv:UnspecifiedMatching +obo:GARD_10734 Pleuropulmonary blastoma familial tumor susceptibility syndrome skos:exactMatch Orphanet:284343 semapv:UnspecifiedMatching +obo:GARD_10734 Pleuropulmonary blastoma familial tumor susceptibility syndrome skos:narrowMatch OMIM:601200 semapv:UnspecifiedMatching +obo:GARD_10738 Primary hyperoxaluria type 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching +obo:GARD_10738 Primary hyperoxaluria type 3 skos:narrowMatch OMIM:613616 semapv:UnspecifiedMatching +obo:GARD_10739 Neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:216 semapv:UnspecifiedMatching +obo:GARD_10740 Proximal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261197 semapv:UnspecifiedMatching +obo:GARD_10740 Proximal 16p11.2 microdeletion syndrome skos:narrowMatch OMIM:611913 semapv:UnspecifiedMatching +obo:GARD_10741 Spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch Orphanet:99642 semapv:UnspecifiedMatching +obo:GARD_10741 Spondyloepimetaphyseal dysplasia, Handigodu type skos:narrowMatch OMIM:613343 semapv:UnspecifiedMatching +obo:GARD_10744 Conjunctival malignant melanoma skos:exactMatch Orphanet:617910 semapv:UnspecifiedMatching +obo:GARD_10752 Epidermolysis bullosa simplex skos:exactMatch Orphanet:304 semapv:UnspecifiedMatching +obo:GARD_10753 Pachyonychia congenita skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching +obo:GARD_10753 Pachyonychia congenita skos:narrowMatch OMIM:167200 semapv:UnspecifiedMatching +obo:GARD_10753 Pachyonychia congenita skos:narrowMatch OMIM:167210 semapv:UnspecifiedMatching +obo:GARD_10753 Pachyonychia congenita skos:narrowMatch OMIM:260130 semapv:UnspecifiedMatching +obo:GARD_10753 Pachyonychia congenita skos:narrowMatch OMIM:615726 semapv:UnspecifiedMatching +obo:GARD_10753 Pachyonychia congenita skos:narrowMatch OMIM:615728 semapv:UnspecifiedMatching +obo:GARD_10754 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch Orphanet:353281 semapv:UnspecifiedMatching +obo:GARD_10754 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:narrowMatch OMIM:610543 semapv:UnspecifiedMatching +obo:GARD_10755 16p13.3 microduplication syndrome skos:exactMatch Orphanet:96078 semapv:UnspecifiedMatching +obo:GARD_10755 16p13.3 microduplication syndrome skos:narrowMatch OMIM:613458 semapv:UnspecifiedMatching +obo:GARD_10756 Multiple epiphyseal dysplasia skos:exactMatch Orphanet:251 semapv:UnspecifiedMatching +obo:GARD_10758 Pseudohypoparathyroidism skos:exactMatch Orphanet:97593 semapv:UnspecifiedMatching +obo:GARD_10760 Glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch Orphanet:137625 semapv:UnspecifiedMatching +obo:GARD_10760 Glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:narrowMatch OMIM:611556 semapv:UnspecifiedMatching +obo:GARD_10761 2-hydroxyglutaric aciduria skos:exactMatch Orphanet:19 semapv:UnspecifiedMatching +obo:GARD_10762 Hereditary arterial and articular multiple calcification syndrome skos:exactMatch Orphanet:289601 semapv:UnspecifiedMatching +obo:GARD_10762 Hereditary arterial and articular multiple calcification syndrome skos:narrowMatch OMIM:211800 semapv:UnspecifiedMatching +obo:GARD_10763 Duane retraction syndrome 1 skos:broadMatch Orphanet:233 semapv:UnspecifiedMatching +obo:GARD_10763 Duane retraction syndrome 1 skos:exactMatch OMIM:126800 semapv:UnspecifiedMatching +obo:GARD_10764 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 semapv:UnspecifiedMatching +obo:GARD_10764 Hypermethioninemia due to glycine N-methyltransferase deficiency skos:narrowMatch OMIM:606664 semapv:UnspecifiedMatching +obo:GARD_10766 Congenital factor XIII deficiency skos:exactMatch Orphanet:331 semapv:UnspecifiedMatching +obo:GARD_10766 Congenital factor XIII deficiency skos:narrowMatch OMIM:613225 semapv:UnspecifiedMatching +obo:GARD_10766 Congenital factor XIII deficiency skos:narrowMatch OMIM:613235 semapv:UnspecifiedMatching +obo:GARD_10767 MOGS-CDG skos:exactMatch Orphanet:79330 semapv:UnspecifiedMatching +obo:GARD_10767 MOGS-CDG skos:narrowMatch OMIM:606056 semapv:UnspecifiedMatching +obo:GARD_10768 Familial or sporadic hemiplegic migraine skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching +obo:GARD_10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:141500 semapv:UnspecifiedMatching +obo:GARD_10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:602481 semapv:UnspecifiedMatching +obo:GARD_10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:607516 semapv:UnspecifiedMatching +obo:GARD_10768 Familial or sporadic hemiplegic migraine skos:narrowMatch OMIM:609634 semapv:UnspecifiedMatching +obo:GARD_10769 Laing early-onset distal myopathy skos:exactMatch Orphanet:59135 semapv:UnspecifiedMatching +obo:GARD_10769 Laing early-onset distal myopathy skos:narrowMatch OMIM:160500 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:exactMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:114580 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:247650 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:252250 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:607644 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613108 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613953 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:613956 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:615527 semapv:UnspecifiedMatching +obo:GARD_1077 Chronic mucocutaneous candidiasis skos:narrowMatch OMIM:616445 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:147950 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:244200 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:308700 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:610628 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:612370 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:612702 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:614837 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:614838 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:614840 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:614858 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:614880 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:614897 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:615266 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:615267 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:615269 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:615270 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:615271 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:616030 semapv:UnspecifiedMatching +obo:GARD_10771 Kallmann syndrome skos:narrowMatch OMIM:618841 semapv:UnspecifiedMatching +obo:GARD_10772 Hypogonadotropic hypogonadism 4 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_10772 Hypogonadotropic hypogonadism 4 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_10772 Hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch OMIM:610628 semapv:UnspecifiedMatching +obo:GARD_10773 Hypogonadotropic hypogonadism 5 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_10773 Hypogonadotropic hypogonadism 5 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_10773 Hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch OMIM:612370 semapv:UnspecifiedMatching +obo:GARD_10774 Hypogonadotropic hypogonadism 6 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_10774 Hypogonadotropic hypogonadism 6 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_10774 Hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch OMIM:612702 semapv:UnspecifiedMatching +obo:GARD_10775 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch Orphanet:228426 semapv:UnspecifiedMatching +obo:GARD_10775 Syndromic multisystem autoimmune disease due to Itch deficiency skos:narrowMatch OMIM:613385 semapv:UnspecifiedMatching +obo:GARD_10777 Peritoneal cystic mesothelioma skos:exactMatch Orphanet:168816 semapv:UnspecifiedMatching +obo:GARD_10778 Recurrent infection due to specific granule deficiency skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching +obo:GARD_10778 Recurrent infection due to specific granule deficiency skos:narrowMatch OMIM:245480 semapv:UnspecifiedMatching +obo:GARD_10778 Recurrent infection due to specific granule deficiency skos:narrowMatch OMIM:617475 semapv:UnspecifiedMatching +obo:GARD_10779 CLIPPERS skos:exactMatch Orphanet:284448 semapv:UnspecifiedMatching +obo:GARD_1078 Hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch Orphanet:2233 semapv:UnspecifiedMatching +obo:GARD_10780 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 semapv:UnspecifiedMatching +obo:GARD_10781 Goldmann-Favre syndrome skos:exactMatch Orphanet:53540 semapv:UnspecifiedMatching +obo:GARD_10781 Goldmann-Favre syndrome skos:narrowMatch OMIM:268100 semapv:UnspecifiedMatching +obo:GARD_10782 Stickler syndrome skos:exactMatch Orphanet:828 semapv:UnspecifiedMatching +obo:GARD_10782 Stickler syndrome skos:narrowMatch OMIM:108300 semapv:UnspecifiedMatching +obo:GARD_10782 Stickler syndrome skos:narrowMatch OMIM:604841 semapv:UnspecifiedMatching +obo:GARD_10782 Stickler syndrome skos:narrowMatch OMIM:609508 semapv:UnspecifiedMatching +obo:GARD_10782 Stickler syndrome skos:narrowMatch OMIM:614134 semapv:UnspecifiedMatching +obo:GARD_10782 Stickler syndrome skos:narrowMatch OMIM:614284 semapv:UnspecifiedMatching +obo:GARD_10783 Bilateral frontal polymicrogyria skos:exactMatch Orphanet:208444 semapv:UnspecifiedMatching +obo:GARD_10784 Bilateral frontoparietal polymicrogyria skos:exactMatch Orphanet:101070 semapv:UnspecifiedMatching +obo:GARD_10784 Bilateral frontoparietal polymicrogyria skos:narrowMatch OMIM:606854 semapv:UnspecifiedMatching +obo:GARD_10785 Bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch Orphanet:208441 semapv:UnspecifiedMatching +obo:GARD_10785 Bilateral parasagittal parieto-occipital polymicrogyria skos:narrowMatch OMIM:612691 semapv:UnspecifiedMatching +obo:GARD_10786 Bilateral generalized polymicrogyria skos:exactMatch Orphanet:208447 semapv:UnspecifiedMatching +obo:GARD_10788 Loeys-Dietz syndrome skos:exactMatch Orphanet:60030 semapv:UnspecifiedMatching +obo:GARD_10788 Loeys-Dietz syndrome skos:narrowMatch OMIM:609192 semapv:UnspecifiedMatching +obo:GARD_10788 Loeys-Dietz syndrome skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:120970 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:300476 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:300834 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:303700 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:304020 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:600624 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:600977 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:601777 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:602093 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:603649 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:604116 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:604393 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:605549 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:608194 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:610283 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:610381 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:610478 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:612657 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:612775 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:613660 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:614500 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:615163 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:615374 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:615860 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:615973 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:616502 semapv:UnspecifiedMatching +obo:GARD_10790 Cone rod dystrophy skos:narrowMatch OMIM:618555 semapv:UnspecifiedMatching +obo:GARD_10791 Logopenic progressive aphasia skos:exactMatch Orphanet:250831 semapv:UnspecifiedMatching +obo:GARD_10792 Semantic dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching +obo:GARD_10792 Semantic dementia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +obo:GARD_10792 Semantic dementia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +obo:GARD_10793 Progressive non-fluent aphasia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching +obo:GARD_10793 Progressive non-fluent aphasia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +obo:GARD_10793 Progressive non-fluent aphasia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +obo:GARD_10793 Progressive non-fluent aphasia skos:narrowMatch OMIM:607485 semapv:UnspecifiedMatching +obo:GARD_10794 Paroxysmal hemicrania skos:exactMatch Orphanet:157835 semapv:UnspecifiedMatching +obo:GARD_10795 Hemicrania continua skos:exactMatch Orphanet:443070 semapv:UnspecifiedMatching +obo:GARD_10796 Hypnic headache skos:exactMatch Orphanet:276429 semapv:UnspecifiedMatching +obo:GARD_108 Adult polyglucosan body disease skos:exactMatch Orphanet:206583 semapv:UnspecifiedMatching +obo:GARD_108 Adult polyglucosan body disease skos:narrowMatch OMIM:263570 semapv:UnspecifiedMatching +obo:GARD_10801 Autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:34149 semapv:UnspecifiedMatching +obo:GARD_10801 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:162000 semapv:UnspecifiedMatching +obo:GARD_10801 Autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:174000 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:exactMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:242300 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:601277 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:604777 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:606545 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:612281 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:613943 semapv:UnspecifiedMatching +obo:GARD_10803 Lamellar ichthyosis skos:narrowMatch OMIM:617571 semapv:UnspecifiedMatching +obo:GARD_10804 Metaplastic carcinoma of the breast skos:exactMatch Orphanet:213531 semapv:UnspecifiedMatching +obo:GARD_10805 MUTYH-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:247798 semapv:UnspecifiedMatching +obo:GARD_10805 MUTYH-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:608456 semapv:UnspecifiedMatching +obo:GARD_10806 Female restricted epilepsy with intellectual disability skos:exactMatch Orphanet:101039 semapv:UnspecifiedMatching +obo:GARD_10806 Female restricted epilepsy with intellectual disability skos:narrowMatch OMIM:300088 semapv:UnspecifiedMatching +obo:GARD_10808 Insulin autoimmune syndrome skos:exactMatch Orphanet:411593 semapv:UnspecifiedMatching +obo:GARD_10809 Postorgasmic illness syndrome skos:exactMatch Orphanet:279947 semapv:UnspecifiedMatching +obo:GARD_10810 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching +obo:GARD_10810 Fatty acid hydroxylase-associated neurodegeneration skos:narrowMatch OMIM:612319 semapv:UnspecifiedMatching +obo:GARD_10813 1q21.1 microdeletion syndrome skos:exactMatch Orphanet:250989 semapv:UnspecifiedMatching +obo:GARD_10813 1q21.1 microdeletion syndrome skos:narrowMatch OMIM:612474 semapv:UnspecifiedMatching +obo:GARD_10814 Thyrotoxic periodic paralysis skos:exactMatch Orphanet:79102 semapv:UnspecifiedMatching +obo:GARD_10814 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:188580 semapv:UnspecifiedMatching +obo:GARD_10814 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:613239 semapv:UnspecifiedMatching +obo:GARD_10814 Thyrotoxic periodic paralysis skos:narrowMatch OMIM:614834 semapv:UnspecifiedMatching +obo:GARD_10816 Lichen planus pigmentosus skos:exactMatch Orphanet:254463 semapv:UnspecifiedMatching +obo:GARD_10817 Autosomal dominant spastic paraplegia type 31 skos:exactMatch Orphanet:101011 semapv:UnspecifiedMatching +obo:GARD_10817 Autosomal dominant spastic paraplegia type 31 skos:narrowMatch OMIM:610250 semapv:UnspecifiedMatching +obo:GARD_10818 Combined malonic and methylmalonic acidemia skos:exactMatch Orphanet:289504 semapv:UnspecifiedMatching +obo:GARD_10818 Combined malonic and methylmalonic acidemia skos:narrowMatch OMIM:614265 semapv:UnspecifiedMatching +obo:GARD_10821 Eastern equine encephalitis skos:exactMatch Orphanet:83594 semapv:UnspecifiedMatching +obo:GARD_10822 Idiopathic spontaneous coronary artery dissection skos:exactMatch Orphanet:458718 semapv:UnspecifiedMatching +obo:GARD_10822 Idiopathic spontaneous coronary artery dissection skos:narrowMatch OMIM:122455 semapv:UnspecifiedMatching +obo:GARD_10823 Obesity due to pro-opiomelanocortin deficiency skos:exactMatch Orphanet:71526 semapv:UnspecifiedMatching +obo:GARD_10823 Obesity due to pro-opiomelanocortin deficiency skos:narrowMatch OMIM:601665 semapv:UnspecifiedMatching +obo:GARD_10823 Obesity due to pro-opiomelanocortin deficiency skos:narrowMatch OMIM:609734 semapv:UnspecifiedMatching +obo:GARD_10824 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch Orphanet:189427 semapv:UnspecifiedMatching +obo:GARD_10824 Cushing syndrome due to macronodular adrenal hyperplasia skos:narrowMatch OMIM:219080 semapv:UnspecifiedMatching +obo:GARD_10824 Cushing syndrome due to macronodular adrenal hyperplasia skos:narrowMatch OMIM:615954 semapv:UnspecifiedMatching +obo:GARD_10828 Familial hypocalciuric hypercalcemia skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching +obo:GARD_10828 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:145980 semapv:UnspecifiedMatching +obo:GARD_10828 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:145981 semapv:UnspecifiedMatching +obo:GARD_10828 Familial hypocalciuric hypercalcemia skos:narrowMatch OMIM:600740 semapv:UnspecifiedMatching +obo:GARD_10829 Hyperparathyroidism-jaw tumor syndrome skos:exactMatch Orphanet:99880 semapv:UnspecifiedMatching +obo:GARD_10829 Hyperparathyroidism-jaw tumor syndrome skos:narrowMatch OMIM:145001 semapv:UnspecifiedMatching +obo:GARD_10830 Nevus of Ito skos:exactMatch Orphanet:263432 semapv:UnspecifiedMatching +obo:GARD_10837 Ring chromosome 2 syndrome skos:exactMatch Orphanet:96171 semapv:UnspecifiedMatching +obo:GARD_10839 Ring chromosome 3 syndrome skos:exactMatch Orphanet:96172 semapv:UnspecifiedMatching +obo:GARD_1084 Systemic capillary leak syndrome skos:exactMatch Orphanet:188 semapv:UnspecifiedMatching +obo:GARD_10841 Ring chromosome 5 syndrome skos:exactMatch Orphanet:251043 semapv:UnspecifiedMatching +obo:GARD_10846 Ring chromosome 11 syndrome skos:exactMatch Orphanet:96175 semapv:UnspecifiedMatching +obo:GARD_10855 Ring chromosome 16 syndrome skos:exactMatch Orphanet:96178 semapv:UnspecifiedMatching +obo:GARD_10860 Monosomy 21 skos:exactMatch Orphanet:574 semapv:UnspecifiedMatching +obo:GARD_10865 Monosomy 18q skos:exactMatch Orphanet:1600 semapv:UnspecifiedMatching +obo:GARD_10865 Monosomy 18q skos:narrowMatch OMIM:601808 semapv:UnspecifiedMatching +obo:GARD_10867 Familial multiple trichoepithelioma skos:exactMatch Orphanet:867 semapv:UnspecifiedMatching +obo:GARD_10867 Familial multiple trichoepithelioma skos:narrowMatch OMIM:601606 semapv:UnspecifiedMatching +obo:GARD_10867 Familial multiple trichoepithelioma skos:narrowMatch OMIM:612099 semapv:UnspecifiedMatching +obo:GARD_10870 Free sialic acid storage disease skos:exactMatch Orphanet:834 semapv:UnspecifiedMatching +obo:GARD_10870 Free sialic acid storage disease skos:narrowMatch OMIM:269920 semapv:UnspecifiedMatching +obo:GARD_10870 Free sialic acid storage disease skos:narrowMatch OMIM:604369 semapv:UnspecifiedMatching +obo:GARD_10871 Intermediate severe Salla disease skos:exactMatch Orphanet:309331 semapv:UnspecifiedMatching +obo:GARD_10872 Malignant peripheral nerve sheath tumor skos:exactMatch Orphanet:3148 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:270100 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:306955 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:601086 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:605376 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:606325 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:613751 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:614779 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:616749 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:617205 semapv:UnspecifiedMatching +obo:GARD_10875 Heterotaxia skos:narrowMatch OMIM:618948 semapv:UnspecifiedMatching +obo:GARD_10876 Congenital radioulnar synostosis skos:exactMatch Orphanet:3269 semapv:UnspecifiedMatching +obo:GARD_10876 Congenital radioulnar synostosis skos:narrowMatch OMIM:179300 semapv:UnspecifiedMatching +obo:GARD_10877 Familial tumoral calcinosis skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching +obo:GARD_10877 Familial tumoral calcinosis skos:narrowMatch OMIM:211900 semapv:UnspecifiedMatching +obo:GARD_10877 Familial tumoral calcinosis skos:narrowMatch OMIM:610455 semapv:UnspecifiedMatching +obo:GARD_10878 Familial normophosphatemic tumoral calcinosis skos:exactMatch Orphanet:306658 semapv:UnspecifiedMatching +obo:GARD_10878 Familial normophosphatemic tumoral calcinosis skos:narrowMatch OMIM:610455 semapv:UnspecifiedMatching +obo:GARD_10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +obo:GARD_10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:narrowMatch OMIM:211900 semapv:UnspecifiedMatching +obo:GARD_10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:narrowMatch OMIM:617993 semapv:UnspecifiedMatching +obo:GARD_10879 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome skos:narrowMatch OMIM:617994 semapv:UnspecifiedMatching +obo:GARD_10880 Leber congenital amaurosis 7 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10880 Leber congenital amaurosis 7 skos:exactMatch OMIM:613829 semapv:UnspecifiedMatching +obo:GARD_10881 Leber congenital amaurosis 8 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10881 Leber congenital amaurosis 8 skos:exactMatch OMIM:613835 semapv:UnspecifiedMatching +obo:GARD_10882 Leber congenital amaurosis 13 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10882 Leber congenital amaurosis 13 skos:exactMatch OMIM:612712 semapv:UnspecifiedMatching +obo:GARD_10883 Leber congenital amaurosis 14 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10883 Leber congenital amaurosis 14 skos:exactMatch OMIM:613341 semapv:UnspecifiedMatching +obo:GARD_10884 Leber congenital amaurosis 15 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10884 Leber congenital amaurosis 15 skos:exactMatch OMIM:613843 semapv:UnspecifiedMatching +obo:GARD_10885 Leber congenital amaurosis 16 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_10885 Leber congenital amaurosis 16 skos:exactMatch OMIM:614186 semapv:UnspecifiedMatching +obo:GARD_10886 Frontal fibrosing alopecia skos:exactMatch Orphanet:254492 semapv:UnspecifiedMatching +obo:GARD_10887 Osteofibrous dysplasia skos:exactMatch Orphanet:488265 semapv:UnspecifiedMatching +obo:GARD_10887 Osteofibrous dysplasia skos:narrowMatch OMIM:607278 semapv:UnspecifiedMatching +obo:GARD_10889 HANAC syndrome skos:exactMatch Orphanet:73229 semapv:UnspecifiedMatching +obo:GARD_10889 HANAC syndrome skos:narrowMatch OMIM:611773 semapv:UnspecifiedMatching +obo:GARD_10890 Non-involuting congenital hemangioma skos:exactMatch Orphanet:141179 semapv:UnspecifiedMatching +obo:GARD_10891 GM1 gangliosidosis skos:exactMatch Orphanet:354 semapv:UnspecifiedMatching +obo:GARD_10891 GM1 gangliosidosis skos:narrowMatch OMIM:230500 semapv:UnspecifiedMatching +obo:GARD_10891 GM1 gangliosidosis skos:narrowMatch OMIM:230600 semapv:UnspecifiedMatching +obo:GARD_10891 GM1 gangliosidosis skos:narrowMatch OMIM:230650 semapv:UnspecifiedMatching +obo:GARD_10892 Blepharophimosis-intellectual disability syndrome skos:exactMatch Orphanet:293642 semapv:UnspecifiedMatching +obo:GARD_10898 Primary acquired pure red cell aplasia skos:exactMatch Orphanet:98872 semapv:UnspecifiedMatching +obo:GARD_10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch Orphanet:52430 semapv:UnspecifiedMatching +obo:GARD_10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:167320 semapv:UnspecifiedMatching +obo:GARD_10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:615422 semapv:UnspecifiedMatching +obo:GARD_10899 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:narrowMatch OMIM:615424 semapv:UnspecifiedMatching +obo:GARD_109 Progressive osseous heteroplasia skos:exactMatch Orphanet:2762 semapv:UnspecifiedMatching +obo:GARD_109 Progressive osseous heteroplasia skos:narrowMatch OMIM:166350 semapv:UnspecifiedMatching +obo:GARD_10900 Hereditary diffuse gastric cancer skos:exactMatch Orphanet:26106 semapv:UnspecifiedMatching +obo:GARD_10900 Hereditary diffuse gastric cancer skos:narrowMatch OMIM:137215 semapv:UnspecifiedMatching +obo:GARD_10902 Neuroacanthocytosis skos:exactMatch Orphanet:263440 semapv:UnspecifiedMatching +obo:GARD_10903 Brachyolmia skos:exactMatch Orphanet:1293 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:exactMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:127550 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:224230 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:305000 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:613987 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:613988 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:613989 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:613990 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:615190 semapv:UnspecifiedMatching +obo:GARD_10905 Dyskeratosis congenita skos:narrowMatch OMIM:616353 semapv:UnspecifiedMatching +obo:GARD_10906 Primary pigmented nodular adrenocortical disease skos:exactMatch Orphanet:189439 semapv:UnspecifiedMatching +obo:GARD_10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:610475 semapv:UnspecifiedMatching +obo:GARD_10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:610489 semapv:UnspecifiedMatching +obo:GARD_10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:614190 semapv:UnspecifiedMatching +obo:GARD_10906 Primary pigmented nodular adrenocortical disease skos:narrowMatch OMIM:615830 semapv:UnspecifiedMatching +obo:GARD_10907 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch Orphanet:317476 semapv:UnspecifiedMatching +obo:GARD_10907 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:narrowMatch OMIM:300853 semapv:UnspecifiedMatching +obo:GARD_10909 Adult-onset foveomacular vitelliform dystrophy skos:exactMatch Orphanet:99000 semapv:UnspecifiedMatching +obo:GARD_10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:153840 semapv:UnspecifiedMatching +obo:GARD_10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:608161 semapv:UnspecifiedMatching +obo:GARD_10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:616151 semapv:UnspecifiedMatching +obo:GARD_10909 Adult-onset foveomacular vitelliform dystrophy skos:narrowMatch OMIM:616152 semapv:UnspecifiedMatching +obo:GARD_10910 Medial condensing osteitis of the clavicle skos:exactMatch Orphanet:57196 semapv:UnspecifiedMatching +obo:GARD_10911 Autoimmune pancreatitis skos:exactMatch Orphanet:103919 semapv:UnspecifiedMatching +obo:GARD_10913 Griscelli syndrome skos:exactMatch Orphanet:381 semapv:UnspecifiedMatching +obo:GARD_10913 Griscelli syndrome skos:narrowMatch OMIM:214450 semapv:UnspecifiedMatching +obo:GARD_10913 Griscelli syndrome skos:narrowMatch OMIM:607624 semapv:UnspecifiedMatching +obo:GARD_10913 Griscelli syndrome skos:narrowMatch OMIM:609227 semapv:UnspecifiedMatching +obo:GARD_10914 Familial avascular necrosis of femoral head skos:exactMatch Orphanet:86820 semapv:UnspecifiedMatching +obo:GARD_10914 Familial avascular necrosis of femoral head skos:narrowMatch OMIM:608805 semapv:UnspecifiedMatching +obo:GARD_10914 Familial avascular necrosis of femoral head skos:narrowMatch OMIM:617383 semapv:UnspecifiedMatching +obo:GARD_10915 X-linked lymphoproliferative disease skos:exactMatch Orphanet:2442 semapv:UnspecifiedMatching +obo:GARD_10915 X-linked lymphoproliferative disease skos:narrowMatch OMIM:300635 semapv:UnspecifiedMatching +obo:GARD_10915 X-linked lymphoproliferative disease skos:narrowMatch OMIM:308240 semapv:UnspecifiedMatching +obo:GARD_10916 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch Orphanet:538934 semapv:UnspecifiedMatching +obo:GARD_10916 X-linked lymphoproliferative disease due to XIAP deficiency skos:narrowMatch OMIM:300635 semapv:UnspecifiedMatching +obo:GARD_10917 Hypomyelination with atrophy of basal ganglia and cerebellum skos:exactMatch Orphanet:139441 semapv:UnspecifiedMatching +obo:GARD_10917 Hypomyelination with atrophy of basal ganglia and cerebellum skos:narrowMatch OMIM:612438 semapv:UnspecifiedMatching +obo:GARD_10917 Hypomyelination with atrophy of basal ganglia and cerebellum skos:narrowMatch OMIM:617899 semapv:UnspecifiedMatching +obo:GARD_10919 Pontine tegmental cap dysplasia skos:exactMatch Orphanet:269229 semapv:UnspecifiedMatching +obo:GARD_10919 Pontine tegmental cap dysplasia skos:narrowMatch OMIM:614688 semapv:UnspecifiedMatching +obo:GARD_10921 Intraneural perineurioma skos:exactMatch Orphanet:100003 semapv:UnspecifiedMatching +obo:GARD_10922 49,XXXYY syndrome skos:exactMatch Orphanet:261534 semapv:UnspecifiedMatching +obo:GARD_10923 Erythrokeratoderma variabilis progressiva skos:exactMatch Orphanet:308166 semapv:UnspecifiedMatching +obo:GARD_10924 Carney triad skos:exactMatch Orphanet:139411 semapv:UnspecifiedMatching +obo:GARD_10924 Carney triad skos:narrowMatch OMIM:604287 semapv:UnspecifiedMatching +obo:GARD_10925 La Crosse encephalitis skos:exactMatch Orphanet:83483 semapv:UnspecifiedMatching +obo:GARD_10927 Cryopyrin-associated periodic syndrome skos:exactMatch Orphanet:208650 semapv:UnspecifiedMatching +obo:GARD_10929 Nodular regenerative hyperplasia of the liver skos:exactMatch Orphanet:48372 semapv:UnspecifiedMatching +obo:GARD_1093 Progressive familial heart block, type ia skos:broadMatch Orphanet:871 semapv:UnspecifiedMatching +obo:GARD_1093 Progressive familial heart block, type ia skos:exactMatch OMIM:113900 semapv:UnspecifiedMatching +obo:GARD_10933 Microcephaly, seizures, and developmental delay skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_10933 Microcephaly, seizures, and developmental delay skos:exactMatch OMIM:613402 semapv:UnspecifiedMatching +obo:GARD_10934 Monocytopenia with susceptibility to infections skos:exactMatch Orphanet:228423 semapv:UnspecifiedMatching +obo:GARD_10934 Monocytopenia with susceptibility to infections skos:narrowMatch OMIM:614172 semapv:UnspecifiedMatching +obo:GARD_10935 16q24.3 microdeletion syndrome skos:exactMatch Orphanet:261250 semapv:UnspecifiedMatching +obo:GARD_10936 17q23.1q23.2 microdeletion syndrome skos:exactMatch Orphanet:261279 semapv:UnspecifiedMatching +obo:GARD_10936 17q23.1q23.2 microdeletion syndrome skos:narrowMatch OMIM:613355 semapv:UnspecifiedMatching +obo:GARD_10937 Lipodystrophy, congenital generalized, type 4 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +obo:GARD_10937 Lipodystrophy, congenital generalized, type 4 skos:exactMatch OMIM:613327 semapv:UnspecifiedMatching +obo:GARD_10938 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:exactMatch Orphanet:231736 semapv:UnspecifiedMatching +obo:GARD_10939 CLOVES syndrome skos:exactMatch Orphanet:140944 semapv:UnspecifiedMatching +obo:GARD_10939 CLOVES syndrome skos:narrowMatch OMIM:612918 semapv:UnspecifiedMatching +obo:GARD_1094 Cardiac diverticulum skos:exactMatch Orphanet:1686 semapv:UnspecifiedMatching +obo:GARD_10940 Superior limbic keratoconjunctivitis skos:exactMatch Orphanet:88633 semapv:UnspecifiedMatching +obo:GARD_10941 Anterior uveitis skos:exactMatch Orphanet:280886 semapv:UnspecifiedMatching +obo:GARD_10942 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:exactMatch Orphanet:238763 semapv:UnspecifiedMatching +obo:GARD_10942 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:narrowMatch OMIM:251750 semapv:UnspecifiedMatching +obo:GARD_10943 1q44 microdeletion syndrome skos:exactMatch Orphanet:238769 semapv:UnspecifiedMatching +obo:GARD_10944 COG6-CGD skos:exactMatch Orphanet:464443 semapv:UnspecifiedMatching +obo:GARD_10944 COG6-CGD skos:narrowMatch OMIM:614576 semapv:UnspecifiedMatching +obo:GARD_10945 Short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:exactMatch Orphanet:391677 semapv:UnspecifiedMatching +obo:GARD_10945 Short stature-optic atrophy-Pelger-Huët anomaly syndrome skos:narrowMatch OMIM:614800 semapv:UnspecifiedMatching +obo:GARD_10946 Corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch Orphanet:54251 semapv:UnspecifiedMatching +obo:GARD_10947 UV-sensitive syndrome skos:exactMatch Orphanet:178338 semapv:UnspecifiedMatching +obo:GARD_10947 UV-sensitive syndrome skos:narrowMatch OMIM:600630 semapv:UnspecifiedMatching +obo:GARD_10947 UV-sensitive syndrome skos:narrowMatch OMIM:614621 semapv:UnspecifiedMatching +obo:GARD_10947 UV-sensitive syndrome skos:narrowMatch OMIM:614640 semapv:UnspecifiedMatching +obo:GARD_10948 Erythropoietic uroporphyria associated with myeloid malignancy skos:exactMatch Orphanet:280379 semapv:UnspecifiedMatching +obo:GARD_10949 Non-24-hour sleep-wake syndrome skos:exactMatch Orphanet:73267 semapv:UnspecifiedMatching +obo:GARD_10951 Necrobiotic xanthogranuloma skos:exactMatch Orphanet:158011 semapv:UnspecifiedMatching +obo:GARD_10954 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch Orphanet:6 semapv:UnspecifiedMatching +obo:GARD_10954 3-methylcrotonyl-CoA carboxylase deficiency skos:narrowMatch OMIM:210200 semapv:UnspecifiedMatching +obo:GARD_10954 3-methylcrotonyl-CoA carboxylase deficiency skos:narrowMatch OMIM:210210 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:163950 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:605275 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:609942 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:610733 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:611553 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:613224 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:613706 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:615355 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:616559 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:616564 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:618499 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:618624 semapv:UnspecifiedMatching +obo:GARD_10955 Noonan syndrome skos:narrowMatch OMIM:619087 semapv:UnspecifiedMatching +obo:GARD_10956 Hyper-IgE syndrome skos:exactMatch Orphanet:331223 semapv:UnspecifiedMatching +obo:GARD_10957 IRIDA syndrome skos:exactMatch Orphanet:209981 semapv:UnspecifiedMatching +obo:GARD_10957 IRIDA syndrome skos:narrowMatch OMIM:206200 semapv:UnspecifiedMatching +obo:GARD_10958 Oculocutaneous albinism skos:exactMatch Orphanet:55 semapv:UnspecifiedMatching +obo:GARD_10959 Familial isolated pituitary adenoma skos:exactMatch Orphanet:314777 semapv:UnspecifiedMatching +obo:GARD_10959 Familial isolated pituitary adenoma skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +obo:GARD_1096 FLNA-related X-linked myxomatous valvular dysplasia skos:exactMatch Orphanet:555877 semapv:UnspecifiedMatching +obo:GARD_1096 FLNA-related X-linked myxomatous valvular dysplasia skos:narrowMatch OMIM:314400 semapv:UnspecifiedMatching +obo:GARD_10962 TEMPI syndrome skos:exactMatch Orphanet:284227 semapv:UnspecifiedMatching +obo:GARD_10964 Chronic graft versus host disease skos:exactMatch Orphanet:99921 semapv:UnspecifiedMatching +obo:GARD_10965 FGFR2-related bent bone dysplasia skos:exactMatch Orphanet:313855 semapv:UnspecifiedMatching +obo:GARD_10965 FGFR2-related bent bone dysplasia skos:narrowMatch OMIM:614592 semapv:UnspecifiedMatching +obo:GARD_10966 Systemic-onset juvenile idiopathic arthritis skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching +obo:GARD_10966 Systemic-onset juvenile idiopathic arthritis skos:narrowMatch OMIM:604302 semapv:UnspecifiedMatching +obo:GARD_10966 Systemic-onset juvenile idiopathic arthritis skos:narrowMatch OMIM:618795 semapv:UnspecifiedMatching +obo:GARD_10969 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85438 semapv:UnspecifiedMatching +obo:GARD_10970 Psoriasis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85436 semapv:UnspecifiedMatching +obo:GARD_10972 Distal monosomy 17q skos:exactMatch Orphanet:1597 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:162350 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204300 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:601780 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:614706 semapv:UnspecifiedMatching +obo:GARD_10973 Adult neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:615362 semapv:UnspecifiedMatching +obo:GARD_10974 Migraine, familial hemiplegic, 3 skos:broadMatch Orphanet:569 semapv:UnspecifiedMatching +obo:GARD_10974 Migraine, familial hemiplegic, 3 skos:exactMatch OMIM:609634 semapv:UnspecifiedMatching +obo:GARD_10977 Non-syndromic pontocerebellar hypoplasia skos:exactMatch Orphanet:98523 semapv:UnspecifiedMatching +obo:GARD_10980 Autoimmune polyendocrinopathy type 3 skos:exactMatch Orphanet:227982 semapv:UnspecifiedMatching +obo:GARD_10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch Orphanet:313808 semapv:UnspecifiedMatching +obo:GARD_10981 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:narrowMatch OMIM:221820 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:exactMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:175900 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:607728 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:612293 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:612353 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:614714 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:616063 semapv:UnspecifiedMatching +obo:GARD_10983 Disseminated superficial actinic porokeratosis skos:narrowMatch OMIM:616631 semapv:UnspecifiedMatching +obo:GARD_10984 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch Orphanet:319552 semapv:UnspecifiedMatching +obo:GARD_10984 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:narrowMatch OMIM:614891 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:exactMatch Orphanet:54260 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:601493 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:601494 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:604169 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:609470 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:611878 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:613424 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:613426 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:615092 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:615373 semapv:UnspecifiedMatching +obo:GARD_10985 Left ventricular noncompaction skos:narrowMatch OMIM:615396 semapv:UnspecifiedMatching +obo:GARD_10986 Granulomatous slack skin skos:exactMatch Orphanet:33111 semapv:UnspecifiedMatching +obo:GARD_10989 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome skos:exactMatch Orphanet:363649 semapv:UnspecifiedMatching +obo:GARD_10989 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome skos:narrowMatch OMIM:615381 semapv:UnspecifiedMatching +obo:GARD_10991 19p13.12 microdeletion syndrome skos:exactMatch Orphanet:254346 semapv:UnspecifiedMatching +obo:GARD_10992 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome skos:exactMatch Orphanet:254343 semapv:UnspecifiedMatching +obo:GARD_10992 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome skos:narrowMatch OMIM:613672 semapv:UnspecifiedMatching +obo:GARD_10994 Genitopatellar syndrome skos:exactMatch Orphanet:85201 semapv:UnspecifiedMatching +obo:GARD_10994 Genitopatellar syndrome skos:narrowMatch OMIM:606170 semapv:UnspecifiedMatching +obo:GARD_10995 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch Orphanet:402364 semapv:UnspecifiedMatching +obo:GARD_10995 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:narrowMatch OMIM:613668 semapv:UnspecifiedMatching +obo:GARD_10996 Distal 17p13.1 microdeletion syndrome skos:exactMatch Orphanet:319171 semapv:UnspecifiedMatching +obo:GARD_10997 Aneurysm-osteoarthritis syndrome skos:exactMatch Orphanet:284984 semapv:UnspecifiedMatching +obo:GARD_10997 Aneurysm-osteoarthritis syndrome skos:narrowMatch OMIM:613795 semapv:UnspecifiedMatching +obo:GARD_10998 2q23.1 microdeletion syndrome skos:exactMatch Orphanet:228402 semapv:UnspecifiedMatching +obo:GARD_10998 2q23.1 microdeletion syndrome skos:narrowMatch OMIM:156200 semapv:UnspecifiedMatching +obo:GARD_10999 Severe intellectual disability and progressive spastic paraplegia skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching +obo:GARD_10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:612936 semapv:UnspecifiedMatching +obo:GARD_10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:613744 semapv:UnspecifiedMatching +obo:GARD_10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:614066 semapv:UnspecifiedMatching +obo:GARD_10999 Severe intellectual disability and progressive spastic paraplegia skos:narrowMatch OMIM:614067 semapv:UnspecifiedMatching +obo:GARD_11 Alternating hemiplegia of childhood skos:exactMatch Orphanet:2131 semapv:UnspecifiedMatching +obo:GARD_11 Alternating hemiplegia of childhood skos:narrowMatch OMIM:104290 semapv:UnspecifiedMatching +obo:GARD_11 Alternating hemiplegia of childhood skos:narrowMatch OMIM:614820 semapv:UnspecifiedMatching +obo:GARD_1100 Noonan syndrome with multiple lentigines skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching +obo:GARD_1100 Noonan syndrome with multiple lentigines skos:narrowMatch OMIM:151100 semapv:UnspecifiedMatching +obo:GARD_1100 Noonan syndrome with multiple lentigines skos:narrowMatch OMIM:611554 semapv:UnspecifiedMatching +obo:GARD_1100 Noonan syndrome with multiple lentigines skos:narrowMatch OMIM:613707 semapv:UnspecifiedMatching +obo:GARD_11000 Constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch Orphanet:319651 semapv:UnspecifiedMatching +obo:GARD_11000 Constitutional megaloblastic anemia with severe neurologic disease skos:narrowMatch OMIM:613839 semapv:UnspecifiedMatching +obo:GARD_11003 Karyomegalic interstitial nephritis skos:exactMatch Orphanet:401996 semapv:UnspecifiedMatching +obo:GARD_11003 Karyomegalic interstitial nephritis skos:narrowMatch OMIM:614817 semapv:UnspecifiedMatching +obo:GARD_11004 Linear and whorled nevoid hypermelanosis skos:exactMatch Orphanet:79150 semapv:UnspecifiedMatching +obo:GARD_11004 Linear and whorled nevoid hypermelanosis skos:narrowMatch OMIM:614323 semapv:UnspecifiedMatching +obo:GARD_11005 Febrile infection-related epilepsy syndrome skos:exactMatch Orphanet:163703 semapv:UnspecifiedMatching +obo:GARD_11006 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:exactMatch Orphanet:300501 semapv:UnspecifiedMatching +obo:GARD_11007 Onychocytic matricoma skos:exactMatch Orphanet:300504 semapv:UnspecifiedMatching +obo:GARD_11008 Nestor-Guillermo progeria syndrome skos:exactMatch Orphanet:280576 semapv:UnspecifiedMatching +obo:GARD_11008 Nestor-Guillermo progeria syndrome skos:narrowMatch OMIM:614008 semapv:UnspecifiedMatching +obo:GARD_11009 Chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch Orphanet:280586 semapv:UnspecifiedMatching +obo:GARD_11009 Chondrodysplasia with joint dislocations, gPAPP type skos:narrowMatch OMIM:614078 semapv:UnspecifiedMatching +obo:GARD_11010 Hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch Orphanet:280598 semapv:UnspecifiedMatching +obo:GARD_11010 Hereditary sensorimotor neuropathy with hyperelastic skin skos:narrowMatch OMIM:608895 semapv:UnspecifiedMatching +obo:GARD_11011 Multifocal motor neuropathy skos:exactMatch Orphanet:641 semapv:UnspecifiedMatching +obo:GARD_1102 Cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch Orphanet:1345 semapv:UnspecifiedMatching +obo:GARD_1104 Cardiomyopathy, dilated, 1a skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_1104 Cardiomyopathy, dilated, 1a skos:exactMatch OMIM:115200 semapv:UnspecifiedMatching +obo:GARD_111 Recurrent respiratory papillomatosis skos:exactMatch Orphanet:60032 semapv:UnspecifiedMatching +obo:GARD_1118 3MC syndrome skos:exactMatch Orphanet:293843 semapv:UnspecifiedMatching +obo:GARD_1118 3MC syndrome skos:narrowMatch OMIM:248340 semapv:UnspecifiedMatching +obo:GARD_1118 3MC syndrome skos:narrowMatch OMIM:257920 semapv:UnspecifiedMatching +obo:GARD_1118 3MC syndrome skos:narrowMatch OMIM:265050 semapv:UnspecifiedMatching +obo:GARD_1119 Carney complex skos:exactMatch Orphanet:1359 semapv:UnspecifiedMatching +obo:GARD_1119 Carney complex skos:narrowMatch OMIM:160980 semapv:UnspecifiedMatching +obo:GARD_1119 Carney complex skos:narrowMatch OMIM:605244 semapv:UnspecifiedMatching +obo:GARD_112 Infant acute respiratory distress syndrome skos:exactMatch Orphanet:70587 semapv:UnspecifiedMatching +obo:GARD_112 Infant acute respiratory distress syndrome skos:narrowMatch OMIM:267450 semapv:UnspecifiedMatching +obo:GARD_1120 Carnitine palmitoyl transferase 1A deficiency skos:exactMatch Orphanet:156 semapv:UnspecifiedMatching +obo:GARD_1120 Carnitine palmitoyl transferase 1A deficiency skos:narrowMatch OMIM:255120 semapv:UnspecifiedMatching +obo:GARD_1121 Carnitine palmitoyltransferase II deficiency skos:exactMatch Orphanet:157 semapv:UnspecifiedMatching +obo:GARD_1121 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:255110 semapv:UnspecifiedMatching +obo:GARD_1121 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:600649 semapv:UnspecifiedMatching +obo:GARD_1121 Carnitine palmitoyltransferase II deficiency skos:narrowMatch OMIM:608836 semapv:UnspecifiedMatching +obo:GARD_1123 Carnitine-acylcarnitine translocase deficiency skos:exactMatch Orphanet:159 semapv:UnspecifiedMatching +obo:GARD_1123 Carnitine-acylcarnitine translocase deficiency skos:narrowMatch OMIM:212138 semapv:UnspecifiedMatching +obo:GARD_1128 Carpotarsal osteochondromatosis skos:exactMatch Orphanet:2767 semapv:UnspecifiedMatching +obo:GARD_1128 Carpotarsal osteochondromatosis skos:narrowMatch OMIM:127820 semapv:UnspecifiedMatching +obo:GARD_1130 Idiopathic chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 semapv:UnspecifiedMatching +obo:GARD_1133 X-linked intellectual disability, Stocco Dos Santos type skos:exactMatch Orphanet:85288 semapv:UnspecifiedMatching +obo:GARD_1133 X-linked intellectual disability, Stocco Dos Santos type skos:narrowMatch OMIM:300434 semapv:UnspecifiedMatching +obo:GARD_1139 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1366 semapv:UnspecifiedMatching +obo:GARD_1139 Autosomal recessive palmoplantar keratoderma and congenital alopecia skos:narrowMatch OMIM:212360 semapv:UnspecifiedMatching +obo:GARD_114 X-linked Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:99014 semapv:UnspecifiedMatching +obo:GARD_114 X-linked Charcot-Marie-Tooth disease type 5 skos:narrowMatch OMIM:311070 semapv:UnspecifiedMatching +obo:GARD_1140 Early-onset anterior polar cataract skos:exactMatch Orphanet:98988 semapv:UnspecifiedMatching +obo:GARD_1140 Early-onset anterior polar cataract skos:narrowMatch OMIM:601202 semapv:UnspecifiedMatching +obo:GARD_1141 Cataract-ataxia-deafness syndrome skos:exactMatch Orphanet:1368 semapv:UnspecifiedMatching +obo:GARD_1141 Cataract-ataxia-deafness syndrome skos:narrowMatch OMIM:212710 semapv:UnspecifiedMatching +obo:GARD_1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:exactMatch Orphanet:1369 semapv:UnspecifiedMatching +obo:GARD_1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:narrowMatch OMIM:212350 semapv:UnspecifiedMatching +obo:GARD_1142 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome skos:narrowMatch OMIM:615418 semapv:UnspecifiedMatching +obo:GARD_1144 Cataract 4, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +obo:GARD_1144 Cataract 4, multiple types skos:exactMatch OMIM:115700 semapv:UnspecifiedMatching +obo:GARD_1155 Cataract-microcornea syndrome skos:exactMatch Orphanet:1377 semapv:UnspecifiedMatching +obo:GARD_1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:115700 semapv:UnspecifiedMatching +obo:GARD_1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:116200 semapv:UnspecifiedMatching +obo:GARD_1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:601547 semapv:UnspecifiedMatching +obo:GARD_1155 Cataract-microcornea syndrome skos:narrowMatch OMIM:604219 semapv:UnspecifiedMatching +obo:GARD_1159 Total early-onset cataract skos:exactMatch Orphanet:98994 semapv:UnspecifiedMatching +obo:GARD_1159 Total early-onset cataract skos:narrowMatch OMIM:601547 semapv:UnspecifiedMatching +obo:GARD_1159 Total early-onset cataract skos:narrowMatch OMIM:616509 semapv:UnspecifiedMatching +obo:GARD_1159 Total early-onset cataract skos:narrowMatch OMIM:618415 semapv:UnspecifiedMatching +obo:GARD_116 Alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch Orphanet:79279 semapv:UnspecifiedMatching +obo:GARD_116 Alpha-N-acetylgalactosaminidase deficiency type 1 skos:narrowMatch OMIM:609241 semapv:UnspecifiedMatching +obo:GARD_1160 Cataract-glaucoma syndrome skos:exactMatch Orphanet:162 semapv:UnspecifiedMatching +obo:GARD_1163 Caudal appendage-deafness syndrome skos:exactMatch Orphanet:1123 semapv:UnspecifiedMatching +obo:GARD_1164 Caudal duplication skos:exactMatch Orphanet:1756 semapv:UnspecifiedMatching +obo:GARD_1164 Caudal duplication skos:narrowMatch OMIM:607864 semapv:UnspecifiedMatching +obo:GARD_1167 Acrocardiofacial syndrome skos:exactMatch Orphanet:2008 semapv:UnspecifiedMatching +obo:GARD_1167 Acrocardiofacial syndrome skos:narrowMatch OMIM:600460 semapv:UnspecifiedMatching +obo:GARD_117 Schinzel-Giedion syndrome skos:exactMatch Orphanet:798 semapv:UnspecifiedMatching +obo:GARD_117 Schinzel-Giedion syndrome skos:narrowMatch OMIM:269150 semapv:UnspecifiedMatching +obo:GARD_118 Ulnar-mammary syndrome skos:exactMatch Orphanet:3138 semapv:UnspecifiedMatching +obo:GARD_118 Ulnar-mammary syndrome skos:narrowMatch OMIM:181450 semapv:UnspecifiedMatching +obo:GARD_11855 Ameloblastic carcinoma skos:exactMatch Orphanet:314422 semapv:UnspecifiedMatching +obo:GARD_1188 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch Orphanet:1171 semapv:UnspecifiedMatching +obo:GARD_1188 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:narrowMatch OMIM:601338 semapv:UnspecifiedMatching +obo:GARD_1189 Cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch Orphanet:1174 semapv:UnspecifiedMatching +obo:GARD_1189 Cerebellar ataxia-ectodermal dysplasia syndrome skos:narrowMatch OMIM:212835 semapv:UnspecifiedMatching +obo:GARD_11890 Peroxisome biogenesis disorder skos:exactMatch Orphanet:79189 semapv:UnspecifiedMatching +obo:GARD_11892 Spinal arteriovenous metameric syndrome skos:exactMatch Orphanet:53721 semapv:UnspecifiedMatching +obo:GARD_11893 Mandibuloacral dysplasia skos:exactMatch Orphanet:2457 semapv:UnspecifiedMatching +obo:GARD_11893 Mandibuloacral dysplasia skos:narrowMatch OMIM:248370 semapv:UnspecifiedMatching +obo:GARD_11893 Mandibuloacral dysplasia skos:narrowMatch OMIM:608612 semapv:UnspecifiedMatching +obo:GARD_11894 Pulmonary alveolar microlithiasis skos:exactMatch Orphanet:60025 semapv:UnspecifiedMatching +obo:GARD_11894 Pulmonary alveolar microlithiasis skos:narrowMatch OMIM:265100 semapv:UnspecifiedMatching +obo:GARD_11895 Pellucid marginal degeneration skos:exactMatch Orphanet:137672 semapv:UnspecifiedMatching +obo:GARD_11897 Progressive cone dystrophy skos:exactMatch Orphanet:1871 semapv:UnspecifiedMatching +obo:GARD_11897 Progressive cone dystrophy skos:narrowMatch OMIM:180020 semapv:UnspecifiedMatching +obo:GARD_11897 Progressive cone dystrophy skos:narrowMatch OMIM:300085 semapv:UnspecifiedMatching +obo:GARD_11897 Progressive cone dystrophy skos:narrowMatch OMIM:304030 semapv:UnspecifiedMatching +obo:GARD_11897 Progressive cone dystrophy skos:narrowMatch OMIM:602093 semapv:UnspecifiedMatching +obo:GARD_11897 Progressive cone dystrophy skos:narrowMatch OMIM:613093 semapv:UnspecifiedMatching +obo:GARD_11898 Linear lichen planus skos:exactMatch Orphanet:254379 semapv:UnspecifiedMatching +obo:GARD_11899 Neurodegeneration with brain iron accumulation skos:exactMatch Orphanet:385 semapv:UnspecifiedMatching +obo:GARD_11901 Juvenile amyotrophic lateral sclerosis skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching +obo:GARD_11901 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:205100 semapv:UnspecifiedMatching +obo:GARD_11901 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:602099 semapv:UnspecifiedMatching +obo:GARD_11901 Juvenile amyotrophic lateral sclerosis skos:narrowMatch OMIM:614373 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:254190 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:254210 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:254300 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:601462 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:603034 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:605809 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:608930 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:608931 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:610542 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:614198 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:614750 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:615120 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616040 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616224 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616227 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616228 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616304 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616313 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616314 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616321 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616322 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616323 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616324 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616325 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616326 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616330 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:616720 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:617143 semapv:UnspecifiedMatching +obo:GARD_11902 Congenital myasthenic syndrome skos:narrowMatch OMIM:617239 semapv:UnspecifiedMatching +obo:GARD_11903 Immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch Orphanet:70593 semapv:UnspecifiedMatching +obo:GARD_11904 Capillary malformation-arteriovenous malformation skos:exactMatch Orphanet:137667 semapv:UnspecifiedMatching +obo:GARD_11904 Capillary malformation-arteriovenous malformation skos:narrowMatch OMIM:608354 semapv:UnspecifiedMatching +obo:GARD_11906 Cylindrical spirals myopathy skos:exactMatch Orphanet:171886 semapv:UnspecifiedMatching +obo:GARD_11907 Acute panmyelosis with myelofibrosis skos:exactMatch Orphanet:86843 semapv:UnspecifiedMatching +obo:GARD_11908 Dirofilariasis skos:exactMatch Orphanet:166291 semapv:UnspecifiedMatching +obo:GARD_1191 Autosomal recessive progressive external ophthalmoplegia skos:exactMatch Orphanet:254886 semapv:UnspecifiedMatching +obo:GARD_1191 Autosomal recessive progressive external ophthalmoplegia skos:narrowMatch OMIM:258450 semapv:UnspecifiedMatching +obo:GARD_1191 Autosomal recessive progressive external ophthalmoplegia skos:narrowMatch OMIM:617069 semapv:UnspecifiedMatching +obo:GARD_11910 Atypical Werner syndrome skos:exactMatch Orphanet:79474 semapv:UnspecifiedMatching +obo:GARD_11911 Deafness-infertility syndrome skos:exactMatch Orphanet:94064 semapv:UnspecifiedMatching +obo:GARD_11911 Deafness-infertility syndrome skos:narrowMatch OMIM:611102 semapv:UnspecifiedMatching +obo:GARD_11914 Heritable pulmonary arterial hypertension skos:exactMatch Orphanet:275777 semapv:UnspecifiedMatching +obo:GARD_11914 Heritable pulmonary arterial hypertension skos:narrowMatch OMIM:178600 semapv:UnspecifiedMatching +obo:GARD_11914 Heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615342 semapv:UnspecifiedMatching +obo:GARD_11915 Cap myopathy skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching +obo:GARD_11915 Cap myopathy skos:narrowMatch OMIM:609284 semapv:UnspecifiedMatching +obo:GARD_11915 Cap myopathy skos:narrowMatch OMIM:609285 semapv:UnspecifiedMatching +obo:GARD_11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch Orphanet:98784 semapv:UnspecifiedMatching +obo:GARD_11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:600513 semapv:UnspecifiedMatching +obo:GARD_11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:603204 semapv:UnspecifiedMatching +obo:GARD_11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:605375 semapv:UnspecifiedMatching +obo:GARD_11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:610353 semapv:UnspecifiedMatching +obo:GARD_11918 Autosomal dominant nocturnal frontal lobe epilepsy skos:narrowMatch OMIM:615005 semapv:UnspecifiedMatching +obo:GARD_11923 Small cell carcinoma of the bladder skos:exactMatch Orphanet:284400 semapv:UnspecifiedMatching +obo:GARD_11925 X-linked centronuclear myopathy skos:exactMatch Orphanet:596 semapv:UnspecifiedMatching +obo:GARD_11925 X-linked centronuclear myopathy skos:narrowMatch OMIM:310400 semapv:UnspecifiedMatching +obo:GARD_11927 Hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch Orphanet:456318 semapv:UnspecifiedMatching +obo:GARD_11927 Hereditary sensory neuropathy-deafness-dementia syndrome skos:narrowMatch OMIM:614116 semapv:UnspecifiedMatching +obo:GARD_1195 Endosteal sclerosis-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:85186 semapv:UnspecifiedMatching +obo:GARD_11951 Rhabdomyosarcoma skos:exactMatch Orphanet:780 semapv:UnspecifiedMatching +obo:GARD_11951 Rhabdomyosarcoma skos:narrowMatch OMIM:268210 semapv:UnspecifiedMatching +obo:GARD_11951 Rhabdomyosarcoma skos:narrowMatch OMIM:268220 semapv:UnspecifiedMatching +obo:GARD_11953 Non-Hodgkin lymphoma skos:exactMatch Orphanet:547 semapv:UnspecifiedMatching +obo:GARD_11953 Non-Hodgkin lymphoma skos:narrowMatch OMIM:605027 semapv:UnspecifiedMatching +obo:GARD_1196 Cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:2246 semapv:UnspecifiedMatching +obo:GARD_1196 Cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:narrowMatch OMIM:213000 semapv:UnspecifiedMatching +obo:GARD_11962 Familial partial lipodystrophy skos:exactMatch Orphanet:98306 semapv:UnspecifiedMatching +obo:GARD_11971 Renal nutcracker syndrome skos:exactMatch Orphanet:71273 semapv:UnspecifiedMatching +obo:GARD_11972 Autosomal dominant optic atrophy skos:exactMatch Orphanet:98672 semapv:UnspecifiedMatching +obo:GARD_11973 Angioimmunoblastic T-cell lymphoma skos:exactMatch Orphanet:86886 semapv:UnspecifiedMatching +obo:GARD_11974 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 semapv:UnspecifiedMatching +obo:GARD_11974 3q29 microdeletion syndrome skos:narrowMatch OMIM:609425 semapv:UnspecifiedMatching +obo:GARD_11979 Autoimmune encephalitis skos:exactMatch Orphanet:622014 semapv:UnspecifiedMatching +obo:GARD_11980 Hypomyelination-congenital cataract syndrome skos:exactMatch Orphanet:85163 semapv:UnspecifiedMatching +obo:GARD_11980 Hypomyelination-congenital cataract syndrome skos:narrowMatch OMIM:610532 semapv:UnspecifiedMatching +obo:GARD_11982 Primary membranoproliferative glomerulonephritis skos:exactMatch Orphanet:54370 semapv:UnspecifiedMatching +obo:GARD_11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:305800 semapv:UnspecifiedMatching +obo:GARD_11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:614809 semapv:UnspecifiedMatching +obo:GARD_11982 Primary membranoproliferative glomerulonephritis skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +obo:GARD_11983 Activated PI3K-delta syndrome skos:exactMatch Orphanet:397596 semapv:UnspecifiedMatching +obo:GARD_11983 Activated PI3K-delta syndrome skos:narrowMatch OMIM:615513 semapv:UnspecifiedMatching +obo:GARD_11983 Activated PI3K-delta syndrome skos:narrowMatch OMIM:616005 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:115310 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:168000 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:171300 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:601650 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:605373 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:614165 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:618464 semapv:UnspecifiedMatching +obo:GARD_11984 Hereditary pheochromocytoma-paraganglioma skos:narrowMatch OMIM:618475 semapv:UnspecifiedMatching +obo:GARD_11985 48,XYYY syndrome skos:exactMatch Orphanet:99329 semapv:UnspecifiedMatching +obo:GARD_1199 Autosomal recessive cerebelloparenchymal disorder type 3 skos:exactMatch Orphanet:1170 semapv:UnspecifiedMatching +obo:GARD_1199 Autosomal recessive cerebelloparenchymal disorder type 3 skos:narrowMatch OMIM:213200 semapv:UnspecifiedMatching +obo:GARD_11992 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies skos:exactMatch Orphanet:306431 semapv:UnspecifiedMatching +obo:GARD_12 Hypersensitivity pneumonitis skos:exactMatch Orphanet:31740 semapv:UnspecifiedMatching +obo:GARD_1200 Hydrocephaly-cerebellar agenesis syndrome skos:exactMatch Orphanet:1397 semapv:UnspecifiedMatching +obo:GARD_1200 Hydrocephaly-cerebellar agenesis syndrome skos:narrowMatch OMIM:307010 semapv:UnspecifiedMatching +obo:GARD_12008 Congenital tracheal stenosis skos:exactMatch Orphanet:141127 semapv:UnspecifiedMatching +obo:GARD_12008 Congenital tracheal stenosis skos:narrowMatch OMIM:603569 semapv:UnspecifiedMatching +obo:GARD_12010 Isolated biliary atresia skos:exactMatch Orphanet:30391 semapv:UnspecifiedMatching +obo:GARD_12010 Isolated biliary atresia skos:narrowMatch OMIM:210500 semapv:UnspecifiedMatching +obo:GARD_12011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E skos:exactMatch Orphanet:93114 semapv:UnspecifiedMatching +obo:GARD_12011 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E skos:narrowMatch OMIM:614455 semapv:UnspecifiedMatching +obo:GARD_12015 Lipoblastoma skos:exactMatch Orphanet:247762 semapv:UnspecifiedMatching +obo:GARD_12016 Primary melanoma of the central nervous system skos:exactMatch Orphanet:252050 semapv:UnspecifiedMatching +obo:GARD_12027 Differentiated thyroid carcinoma skos:exactMatch Orphanet:146 semapv:UnspecifiedMatching +obo:GARD_12027 Differentiated thyroid carcinoma skos:narrowMatch OMIM:188550 semapv:UnspecifiedMatching +obo:GARD_12027 Differentiated thyroid carcinoma skos:narrowMatch OMIM:607464 semapv:UnspecifiedMatching +obo:GARD_12032 Levocardia skos:exactMatch Orphanet:95854 semapv:UnspecifiedMatching +obo:GARD_12033 Nemaline myopathy skos:exactMatch Orphanet:607 semapv:UnspecifiedMatching +obo:GARD_12036 Facial onset sensory and motor neuronopathy skos:exactMatch Orphanet:85162 semapv:UnspecifiedMatching +obo:GARD_12048 Immunotactoid glomerulopathy skos:exactMatch Orphanet:97567 semapv:UnspecifiedMatching +obo:GARD_12059 GM3 synthase deficiency skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching +obo:GARD_12059 GM3 synthase deficiency skos:narrowMatch OMIM:609056 semapv:UnspecifiedMatching +obo:GARD_12062 Visual snow syndrome skos:exactMatch Orphanet:420556 semapv:UnspecifiedMatching +obo:GARD_12074 Oculo-auriculo-vertebral spectrum skos:exactMatch Orphanet:141132 semapv:UnspecifiedMatching +obo:GARD_12076 7q11.23 microduplication syndrome skos:exactMatch Orphanet:96121 semapv:UnspecifiedMatching +obo:GARD_12076 7q11.23 microduplication syndrome skos:narrowMatch OMIM:609757 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:exactMatch Orphanet:2542 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:156850 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:251600 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:610093 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:611038 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:613094 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:613517 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:613704 semapv:UnspecifiedMatching +obo:GARD_12085 Isolated microphthalmia-anophthalmia-coloboma skos:narrowMatch OMIM:615113 semapv:UnspecifiedMatching +obo:GARD_12097 Lysosomal acid lipase deficiency skos:exactMatch Orphanet:275761 semapv:UnspecifiedMatching +obo:GARD_12097 Lysosomal acid lipase deficiency skos:narrowMatch OMIM:278000 semapv:UnspecifiedMatching +obo:GARD_12099 Cholesteryl ester storage disease skos:exactMatch Orphanet:75234 semapv:UnspecifiedMatching +obo:GARD_12099 Cholesteryl ester storage disease skos:narrowMatch OMIM:278000 semapv:UnspecifiedMatching +obo:GARD_121 Focal facial dermal dysplasia type III skos:exactMatch Orphanet:1807 semapv:UnspecifiedMatching +obo:GARD_121 Focal facial dermal dysplasia type III skos:narrowMatch OMIM:227260 semapv:UnspecifiedMatching +obo:GARD_1210 Cerebrofaciothoracic dysplasia skos:exactMatch Orphanet:1394 semapv:UnspecifiedMatching +obo:GARD_1210 Cerebrofaciothoracic dysplasia skos:narrowMatch OMIM:213980 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:156200 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:612580 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:612581 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:612621 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:613970 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614113 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614254 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614255 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614256 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614257 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:614563 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:615828 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616083 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616393 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616579 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:616977 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617796 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617798 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617799 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:617854 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:618095 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:618106 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:618330 semapv:UnspecifiedMatching +obo:GARD_12107 Autosomal dominant non-syndromic intellectual disability skos:narrowMatch OMIM:619188 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:234050 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:300953 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:601675 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:616390 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:616395 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:616943 semapv:UnspecifiedMatching +obo:GARD_12109 Trichothiodystrophy skos:narrowMatch OMIM:618546 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:251200 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:603802 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:604317 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:604321 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:604804 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:608393 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:608716 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:612703 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:614673 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:614852 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616051 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616080 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616402 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616486 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:616681 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617090 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617800 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617914 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617983 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617984 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:617985 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:618179 semapv:UnspecifiedMatching +obo:GARD_12117 Autosomal recessive primary microcephaly skos:narrowMatch OMIM:618351 semapv:UnspecifiedMatching +obo:GARD_12123 Congenital absence of upper arm and forearm with hand present skos:exactMatch Orphanet:294975 semapv:UnspecifiedMatching +obo:GARD_12124 Macrophage activation syndrome skos:exactMatch Orphanet:158061 semapv:UnspecifiedMatching +obo:GARD_12125 Plasmablastic lymphoma skos:exactMatch Orphanet:289666 semapv:UnspecifiedMatching +obo:GARD_12128 Methylmalonic acidemia with homocystinuria, type cblC skos:exactMatch Orphanet:79282 semapv:UnspecifiedMatching +obo:GARD_12128 Methylmalonic acidemia with homocystinuria, type cblC skos:narrowMatch OMIM:277400 semapv:UnspecifiedMatching +obo:GARD_12144 Dopa-responsive dystonia skos:exactMatch Orphanet:255 semapv:UnspecifiedMatching +obo:GARD_12162 Reducing body myopathy skos:exactMatch Orphanet:97239 semapv:UnspecifiedMatching +obo:GARD_12162 Reducing body myopathy skos:narrowMatch OMIM:300717 semapv:UnspecifiedMatching +obo:GARD_12162 Reducing body myopathy skos:narrowMatch OMIM:300718 semapv:UnspecifiedMatching +obo:GARD_12163 Brain-lung-thyroid syndrome skos:exactMatch Orphanet:209905 semapv:UnspecifiedMatching +obo:GARD_12163 Brain-lung-thyroid syndrome skos:narrowMatch OMIM:610978 semapv:UnspecifiedMatching +obo:GARD_12166 5q14.3 microdeletion syndrome skos:exactMatch Orphanet:228384 semapv:UnspecifiedMatching +obo:GARD_12166 5q14.3 microdeletion syndrome skos:narrowMatch OMIM:613443 semapv:UnspecifiedMatching +obo:GARD_1217 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch Orphanet:247691 semapv:UnspecifiedMatching +obo:GARD_1217 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:narrowMatch OMIM:192315 semapv:UnspecifiedMatching +obo:GARD_12173 CDKL5-deficiency disorder skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching +obo:GARD_12173 CDKL5-deficiency disorder skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +obo:GARD_1218 CLN10 disease skos:exactMatch Orphanet:228337 semapv:UnspecifiedMatching +obo:GARD_1218 CLN10 disease skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +obo:GARD_12185 Benign recurrent intrahepatic cholestasis skos:exactMatch Orphanet:65682 semapv:UnspecifiedMatching +obo:GARD_12185 Benign recurrent intrahepatic cholestasis skos:narrowMatch OMIM:243300 semapv:UnspecifiedMatching +obo:GARD_12185 Benign recurrent intrahepatic cholestasis skos:narrowMatch OMIM:605479 semapv:UnspecifiedMatching +obo:GARD_1219 CLN1 disease skos:exactMatch Orphanet:228329 semapv:UnspecifiedMatching +obo:GARD_1219 CLN1 disease skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +obo:GARD_12199 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:exactMatch Orphanet:439212 semapv:UnspecifiedMatching +obo:GARD_12199 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:narrowMatch OMIM:614399 semapv:UnspecifiedMatching +obo:GARD_122 Singleton-Merten dysplasia skos:exactMatch Orphanet:85191 semapv:UnspecifiedMatching +obo:GARD_122 Singleton-Merten dysplasia skos:narrowMatch OMIM:182250 semapv:UnspecifiedMatching +obo:GARD_122 Singleton-Merten dysplasia skos:narrowMatch OMIM:616298 semapv:UnspecifiedMatching +obo:GARD_1220 CLN7 disease skos:exactMatch Orphanet:228366 semapv:UnspecifiedMatching +obo:GARD_1220 CLN7 disease skos:narrowMatch OMIM:610951 semapv:UnspecifiedMatching +obo:GARD_12219 15q24 microdeletion syndrome skos:exactMatch Orphanet:94065 semapv:UnspecifiedMatching +obo:GARD_12219 15q24 microdeletion syndrome skos:narrowMatch OMIM:613406 semapv:UnspecifiedMatching +obo:GARD_1222 CLN4B disease skos:exactMatch Orphanet:228343 semapv:UnspecifiedMatching +obo:GARD_1222 CLN4B disease skos:narrowMatch OMIM:162350 semapv:UnspecifiedMatching +obo:GARD_1223 CLN5 disease skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching +obo:GARD_1223 CLN5 disease skos:narrowMatch OMIM:256731 semapv:UnspecifiedMatching +obo:GARD_12232 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:exactMatch Orphanet:284324 semapv:UnspecifiedMatching +obo:GARD_12232 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia skos:narrowMatch OMIM:609270 semapv:UnspecifiedMatching +obo:GARD_12234 Autosomal recessive ataxia, Beauce type skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching +obo:GARD_12234 Autosomal recessive ataxia, Beauce type skos:narrowMatch OMIM:610743 semapv:UnspecifiedMatching +obo:GARD_1224 CLN6 disease skos:exactMatch Orphanet:228363 semapv:UnspecifiedMatching +obo:GARD_1224 CLN6 disease skos:narrowMatch OMIM:601780 semapv:UnspecifiedMatching +obo:GARD_12241 Familial lipoprotein lipase deficiency skos:exactMatch Orphanet:309015 semapv:UnspecifiedMatching +obo:GARD_12241 Familial lipoprotein lipase deficiency skos:narrowMatch OMIM:144250 semapv:UnspecifiedMatching +obo:GARD_12241 Familial lipoprotein lipase deficiency skos:narrowMatch OMIM:238600 semapv:UnspecifiedMatching +obo:GARD_12244 New-onset refractory status epilepticus skos:exactMatch Orphanet:363558 semapv:UnspecifiedMatching +obo:GARD_12251 Isolated ectopia lentis skos:exactMatch Orphanet:1885 semapv:UnspecifiedMatching +obo:GARD_12251 Isolated ectopia lentis skos:narrowMatch OMIM:129600 semapv:UnspecifiedMatching +obo:GARD_12251 Isolated ectopia lentis skos:narrowMatch OMIM:225100 semapv:UnspecifiedMatching +obo:GARD_12251 Isolated ectopia lentis skos:narrowMatch OMIM:225200 semapv:UnspecifiedMatching +obo:GARD_12257 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch Orphanet:300857 semapv:UnspecifiedMatching +obo:GARD_1226 Cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch Orphanet:2218 semapv:UnspecifiedMatching +obo:GARD_1226 Cervical hypertrichosis-peripheral neuropathy syndrome skos:narrowMatch OMIM:239840 semapv:UnspecifiedMatching +obo:GARD_12264 COL4A1-related familial vascular leukoencephalopathy skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching +obo:GARD_12264 COL4A1-related familial vascular leukoencephalopathy skos:narrowMatch OMIM:175780 semapv:UnspecifiedMatching +obo:GARD_12267 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:exactMatch Orphanet:88642 semapv:UnspecifiedMatching +obo:GARD_12267 Congenital insensitivity to pain-anosmia-neuropathic arthropathy skos:narrowMatch OMIM:243000 semapv:UnspecifiedMatching +obo:GARD_12280 Central congenital hypothyroidism skos:exactMatch Orphanet:226298 semapv:UnspecifiedMatching +obo:GARD_12281 Chronic atrial and intestinal dysrhythmia syndrome skos:exactMatch Orphanet:435988 semapv:UnspecifiedMatching +obo:GARD_12281 Chronic atrial and intestinal dysrhythmia syndrome skos:narrowMatch OMIM:616201 semapv:UnspecifiedMatching +obo:GARD_12291 Lissencephaly skos:exactMatch Orphanet:48471 semapv:UnspecifiedMatching +obo:GARD_12299 Bradyopsia skos:exactMatch Orphanet:75374 semapv:UnspecifiedMatching +obo:GARD_12299 Bradyopsia skos:narrowMatch OMIM:608415 semapv:UnspecifiedMatching +obo:GARD_12300 Pelizaeus-Merzbacher-like disease skos:exactMatch Orphanet:280270 semapv:UnspecifiedMatching +obo:GARD_12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:260600 semapv:UnspecifiedMatching +obo:GARD_12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:300523 semapv:UnspecifiedMatching +obo:GARD_12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:608804 semapv:UnspecifiedMatching +obo:GARD_12300 Pelizaeus-Merzbacher-like disease skos:narrowMatch OMIM:612233 semapv:UnspecifiedMatching +obo:GARD_12301 Thomsen and Becker disease skos:exactMatch Orphanet:614 semapv:UnspecifiedMatching +obo:GARD_12301 Thomsen and Becker disease skos:narrowMatch OMIM:160800 semapv:UnspecifiedMatching +obo:GARD_12301 Thomsen and Becker disease skos:narrowMatch OMIM:255700 semapv:UnspecifiedMatching +obo:GARD_12308 Celiac artery compression syndrome skos:exactMatch Orphanet:293208 semapv:UnspecifiedMatching +obo:GARD_12311 Congenital lactase deficiency skos:exactMatch Orphanet:53690 semapv:UnspecifiedMatching +obo:GARD_12311 Congenital lactase deficiency skos:narrowMatch OMIM:223000 semapv:UnspecifiedMatching +obo:GARD_12312 IMAGe syndrome skos:exactMatch Orphanet:85173 semapv:UnspecifiedMatching +obo:GARD_12312 IMAGe syndrome skos:narrowMatch OMIM:614732 semapv:UnspecifiedMatching +obo:GARD_12314 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome skos:exactMatch Orphanet:391487 semapv:UnspecifiedMatching +obo:GARD_12314 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome skos:narrowMatch OMIM:614162 semapv:UnspecifiedMatching +obo:GARD_12315 Alacrimia-choreoathetosis-liver dysfunction syndrome skos:exactMatch Orphanet:404454 semapv:UnspecifiedMatching +obo:GARD_12315 Alacrimia-choreoathetosis-liver dysfunction syndrome skos:narrowMatch OMIM:615273 semapv:UnspecifiedMatching +obo:GARD_12316 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:exactMatch Orphanet:436159 semapv:UnspecifiedMatching +obo:GARD_12316 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:narrowMatch OMIM:616100 semapv:UnspecifiedMatching +obo:GARD_12328 Hereditary sensory and autonomic neuropathy type 5 skos:exactMatch Orphanet:64752 semapv:UnspecifiedMatching +obo:GARD_12328 Hereditary sensory and autonomic neuropathy type 5 skos:narrowMatch OMIM:608654 semapv:UnspecifiedMatching +obo:GARD_1233 CHAND syndrome skos:exactMatch Orphanet:1401 semapv:UnspecifiedMatching +obo:GARD_1233 CHAND syndrome skos:narrowMatch OMIM:214350 semapv:UnspecifiedMatching +obo:GARD_12331 Intestinal lymphangiectasia skos:exactMatch Orphanet:36204 semapv:UnspecifiedMatching +obo:GARD_12335 Carcinosarcoma of the corpus uteri skos:exactMatch Orphanet:213610 semapv:UnspecifiedMatching +obo:GARD_12338 Transcobalamin deficiency skos:exactMatch Orphanet:859 semapv:UnspecifiedMatching +obo:GARD_12338 Transcobalamin deficiency skos:narrowMatch OMIM:275350 semapv:UnspecifiedMatching +obo:GARD_1234 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2235 semapv:UnspecifiedMatching +obo:GARD_12344 Rare lichen planus skos:exactMatch Orphanet:254367 semapv:UnspecifiedMatching +obo:GARD_12347 Dihydropyrimidinuria skos:exactMatch Orphanet:38874 semapv:UnspecifiedMatching +obo:GARD_12347 Dihydropyrimidinuria skos:narrowMatch OMIM:222748 semapv:UnspecifiedMatching +obo:GARD_12348 COG5-CDG skos:exactMatch Orphanet:263487 semapv:UnspecifiedMatching +obo:GARD_12348 COG5-CDG skos:narrowMatch OMIM:613612 semapv:UnspecifiedMatching +obo:GARD_1235 Multifocal atrial tachycardia skos:exactMatch Orphanet:3282 semapv:UnspecifiedMatching +obo:GARD_12351 Breast-ovarian cancer, familial, susceptibility to, 1 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +obo:GARD_12351 Breast-ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 semapv:UnspecifiedMatching +obo:GARD_12352 Breast-ovarian cancer, familial, susceptibility to, 2 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +obo:GARD_12352 Breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 semapv:UnspecifiedMatching +obo:GARD_12353 Autosomal recessive axonal neuropathy with neuromyotonia skos:exactMatch Orphanet:324442 semapv:UnspecifiedMatching +obo:GARD_12353 Autosomal recessive axonal neuropathy with neuromyotonia skos:narrowMatch OMIM:137200 semapv:UnspecifiedMatching +obo:GARD_12354 Distal renal tubular acidosis with anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching +obo:GARD_12354 Distal renal tubular acidosis with anemia skos:narrowMatch OMIM:611590 semapv:UnspecifiedMatching +obo:GARD_12356 Loeys-dietz syndrome 5 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_12356 Loeys-dietz syndrome 5 skos:exactMatch OMIM:615582 semapv:UnspecifiedMatching +obo:GARD_12357 STING-associated vasculopathy with onset in infancy skos:exactMatch Orphanet:425120 semapv:UnspecifiedMatching +obo:GARD_12357 STING-associated vasculopathy with onset in infancy skos:narrowMatch OMIM:615934 semapv:UnspecifiedMatching +obo:GARD_12360 Microcytic anemia with liver iron overload skos:exactMatch Orphanet:83642 semapv:UnspecifiedMatching +obo:GARD_12360 Microcytic anemia with liver iron overload skos:narrowMatch OMIM:206100 semapv:UnspecifiedMatching +obo:GARD_12362 Familial hyperaldosteronism type III skos:exactMatch Orphanet:251274 semapv:UnspecifiedMatching +obo:GARD_12362 Familial hyperaldosteronism type III skos:narrowMatch OMIM:613677 semapv:UnspecifiedMatching +obo:GARD_12365 Spinocerebellar ataxia type 19/22 skos:exactMatch Orphanet:98772 semapv:UnspecifiedMatching +obo:GARD_12365 Spinocerebellar ataxia type 19/22 skos:narrowMatch OMIM:607346 semapv:UnspecifiedMatching +obo:GARD_12366 Spinocerebellar ataxia type 35 skos:exactMatch Orphanet:276193 semapv:UnspecifiedMatching +obo:GARD_12366 Spinocerebellar ataxia type 35 skos:narrowMatch OMIM:613908 semapv:UnspecifiedMatching +obo:GARD_12367 Spinocerebellar ataxia type 36 skos:exactMatch Orphanet:276198 semapv:UnspecifiedMatching +obo:GARD_12367 Spinocerebellar ataxia type 36 skos:narrowMatch OMIM:614153 semapv:UnspecifiedMatching +obo:GARD_12368 Spinocerebellar ataxia type 37 skos:exactMatch Orphanet:363710 semapv:UnspecifiedMatching +obo:GARD_12368 Spinocerebellar ataxia type 37 skos:narrowMatch OMIM:615945 semapv:UnspecifiedMatching +obo:GARD_12369 Spinocerebellar ataxia type 38 skos:exactMatch Orphanet:423296 semapv:UnspecifiedMatching +obo:GARD_12369 Spinocerebellar ataxia type 38 skos:narrowMatch OMIM:615957 semapv:UnspecifiedMatching +obo:GARD_1237 Char syndrome skos:exactMatch Orphanet:46627 semapv:UnspecifiedMatching +obo:GARD_1237 Char syndrome skos:narrowMatch OMIM:169100 semapv:UnspecifiedMatching +obo:GARD_12371 Spinocerebellar ataxia type 40 skos:exactMatch Orphanet:423275 semapv:UnspecifiedMatching +obo:GARD_12371 Spinocerebellar ataxia type 40 skos:narrowMatch OMIM:616053 semapv:UnspecifiedMatching +obo:GARD_12372 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome skos:exactMatch Orphanet:314404 semapv:UnspecifiedMatching +obo:GARD_12372 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome skos:narrowMatch OMIM:604121 semapv:UnspecifiedMatching +obo:GARD_12375 Idiopathic CD4 lymphocytopenia skos:exactMatch Orphanet:228000 semapv:UnspecifiedMatching +obo:GARD_12375 Idiopathic CD4 lymphocytopenia skos:narrowMatch OMIM:615518 semapv:UnspecifiedMatching +obo:GARD_12382 Sudden infant death-dysgenesis of the testes syndrome skos:exactMatch Orphanet:168593 semapv:UnspecifiedMatching +obo:GARD_12382 Sudden infant death-dysgenesis of the testes syndrome skos:narrowMatch OMIM:608800 semapv:UnspecifiedMatching +obo:GARD_12383 Vasculitis due to ADA2 deficiency skos:exactMatch Orphanet:404553 semapv:UnspecifiedMatching +obo:GARD_12383 Vasculitis due to ADA2 deficiency skos:narrowMatch OMIM:615688 semapv:UnspecifiedMatching +obo:GARD_12384 Hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch Orphanet:324561 semapv:UnspecifiedMatching +obo:GARD_12384 Hypopigmentation-punctate palmoplantar keratoderma syndrome skos:narrowMatch OMIM:615522 semapv:UnspecifiedMatching +obo:GARD_12385 Male infertility due to large-headed multiflagellar polyploid spermatozoa skos:exactMatch Orphanet:137893 semapv:UnspecifiedMatching +obo:GARD_12385 Male infertility due to large-headed multiflagellar polyploid spermatozoa skos:narrowMatch OMIM:243060 semapv:UnspecifiedMatching +obo:GARD_12388 Proximal 16p11.2 microduplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching +obo:GARD_12388 Proximal 16p11.2 microduplication syndrome skos:narrowMatch OMIM:614671 semapv:UnspecifiedMatching +obo:GARD_12390 Schnitzler syndrome skos:exactMatch Orphanet:37748 semapv:UnspecifiedMatching +obo:GARD_12391 Developmental and epileptic encephalopathy 26 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_12391 Developmental and epileptic encephalopathy 26 skos:exactMatch OMIM:616056 semapv:UnspecifiedMatching +obo:GARD_12393 DK1-CDG skos:exactMatch Orphanet:91131 semapv:UnspecifiedMatching +obo:GARD_12393 DK1-CDG skos:narrowMatch OMIM:610768 semapv:UnspecifiedMatching +obo:GARD_12394 RFT1-CDG skos:exactMatch Orphanet:244310 semapv:UnspecifiedMatching +obo:GARD_12394 RFT1-CDG skos:narrowMatch OMIM:612015 semapv:UnspecifiedMatching +obo:GARD_12395 DPM3-CDG skos:exactMatch Orphanet:263494 semapv:UnspecifiedMatching +obo:GARD_12395 DPM3-CDG skos:narrowMatch OMIM:612937 semapv:UnspecifiedMatching +obo:GARD_12396 ALG11-CDG skos:exactMatch Orphanet:280071 semapv:UnspecifiedMatching +obo:GARD_12396 ALG11-CDG skos:narrowMatch OMIM:613661 semapv:UnspecifiedMatching +obo:GARD_12397 SRD5A3-CDG skos:exactMatch Orphanet:324737 semapv:UnspecifiedMatching +obo:GARD_12397 SRD5A3-CDG skos:narrowMatch OMIM:612379 semapv:UnspecifiedMatching +obo:GARD_12398 DDOST-CDG skos:exactMatch Orphanet:300536 semapv:UnspecifiedMatching +obo:GARD_12398 DDOST-CDG skos:narrowMatch OMIM:614507 semapv:UnspecifiedMatching +obo:GARD_1240 X-linked Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:101078 semapv:UnspecifiedMatching +obo:GARD_1240 X-linked Charcot-Marie-Tooth disease type 4 skos:narrowMatch OMIM:310490 semapv:UnspecifiedMatching +obo:GARD_12401 ALG13-CDG skos:exactMatch Orphanet:324422 semapv:UnspecifiedMatching +obo:GARD_12401 ALG13-CDG skos:narrowMatch OMIM:300884 semapv:UnspecifiedMatching +obo:GARD_12403 SLC35A2-CDG skos:exactMatch Orphanet:356961 semapv:UnspecifiedMatching +obo:GARD_12403 SLC35A2-CDG skos:narrowMatch OMIM:300896 semapv:UnspecifiedMatching +obo:GARD_12404 Alacrima, achalasia, and mental retardation syndrome skos:broadMatch Orphanet:869 semapv:UnspecifiedMatching +obo:GARD_12404 Alacrima, achalasia, and mental retardation syndrome skos:exactMatch OMIM:615510 semapv:UnspecifiedMatching +obo:GARD_12405 SSR4-CDG skos:exactMatch Orphanet:370927 semapv:UnspecifiedMatching +obo:GARD_12405 SSR4-CDG skos:narrowMatch OMIM:300934 semapv:UnspecifiedMatching +obo:GARD_12409 SLC35A1-CDG skos:exactMatch Orphanet:238459 semapv:UnspecifiedMatching +obo:GARD_12409 SLC35A1-CDG skos:narrowMatch OMIM:603585 semapv:UnspecifiedMatching +obo:GARD_12411 COG8-CDG skos:exactMatch Orphanet:95428 semapv:UnspecifiedMatching +obo:GARD_12411 COG8-CDG skos:narrowMatch OMIM:611182 semapv:UnspecifiedMatching +obo:GARD_12412 COG4-CDG skos:exactMatch Orphanet:263501 semapv:UnspecifiedMatching +obo:GARD_12412 COG4-CDG skos:narrowMatch OMIM:613489 semapv:UnspecifiedMatching +obo:GARD_12413 TMEM165-CDG skos:exactMatch Orphanet:314667 semapv:UnspecifiedMatching +obo:GARD_12413 TMEM165-CDG skos:narrowMatch OMIM:614727 semapv:UnspecifiedMatching +obo:GARD_12416 Congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch Orphanet:329178 semapv:UnspecifiedMatching +obo:GARD_12416 Congenital muscular dystrophy with intellectual disability and severe epilepsy skos:narrowMatch OMIM:615042 semapv:UnspecifiedMatching +obo:GARD_12417 MAN1B1-CDG skos:exactMatch Orphanet:397941 semapv:UnspecifiedMatching +obo:GARD_12421 Partial duplication of the short arm of chromosome X skos:exactMatch Orphanet:263775 semapv:UnspecifiedMatching +obo:GARD_12426 Congenital intrauterine infection-like syndrome skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching +obo:GARD_12426 Congenital intrauterine infection-like syndrome skos:narrowMatch OMIM:251290 semapv:UnspecifiedMatching +obo:GARD_12428 Cutaneous collagenous vasculopathy skos:exactMatch Orphanet:280779 semapv:UnspecifiedMatching +obo:GARD_12429 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:exactMatch Orphanet:228174 semapv:UnspecifiedMatching +obo:GARD_12429 Autosomal dominant Charcot-Marie-Tooth disease type 2N skos:narrowMatch OMIM:613287 semapv:UnspecifiedMatching +obo:GARD_1243 X-linked Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:101076 semapv:UnspecifiedMatching +obo:GARD_1243 X-linked Charcot-Marie-Tooth disease type 2 skos:narrowMatch OMIM:302801 semapv:UnspecifiedMatching +obo:GARD_12431 Autosomal dominant Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:64746 semapv:UnspecifiedMatching +obo:GARD_12432 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:exactMatch Orphanet:99945 semapv:UnspecifiedMatching +obo:GARD_12432 Autosomal dominant Charcot-Marie-Tooth disease type 2L skos:narrowMatch OMIM:608673 semapv:UnspecifiedMatching +obo:GARD_12433 Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:65753 semapv:UnspecifiedMatching +obo:GARD_12434 Autosomal dominant Charcot-Marie-Tooth disease type 2O skos:exactMatch Orphanet:284232 semapv:UnspecifiedMatching +obo:GARD_12434 Autosomal dominant Charcot-Marie-Tooth disease type 2O skos:narrowMatch OMIM:614228 semapv:UnspecifiedMatching +obo:GARD_12435 Charcot-Marie-Tooth disease type 2P skos:exactMatch Orphanet:300319 semapv:UnspecifiedMatching +obo:GARD_12435 Charcot-Marie-Tooth disease type 2P skos:narrowMatch OMIM:614436 semapv:UnspecifiedMatching +obo:GARD_12436 Autosomal dominant intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:90114 semapv:UnspecifiedMatching +obo:GARD_12437 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:exactMatch Orphanet:100043 semapv:UnspecifiedMatching +obo:GARD_12437 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A skos:narrowMatch OMIM:606483 semapv:UnspecifiedMatching +obo:GARD_12438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:exactMatch Orphanet:100044 semapv:UnspecifiedMatching +obo:GARD_12438 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B skos:narrowMatch OMIM:606482 semapv:UnspecifiedMatching +obo:GARD_12439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:exactMatch Orphanet:100045 semapv:UnspecifiedMatching +obo:GARD_12439 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C skos:narrowMatch OMIM:608323 semapv:UnspecifiedMatching +obo:GARD_1244 X-linked Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:101077 semapv:UnspecifiedMatching +obo:GARD_1244 X-linked Charcot-Marie-Tooth disease type 3 skos:narrowMatch OMIM:302802 semapv:UnspecifiedMatching +obo:GARD_12440 Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:64749 semapv:UnspecifiedMatching +obo:GARD_12441 Charcot-Marie-Tooth disease type 4F skos:exactMatch Orphanet:99952 semapv:UnspecifiedMatching +obo:GARD_12441 Charcot-Marie-Tooth disease type 4F skos:narrowMatch OMIM:614895 semapv:UnspecifiedMatching +obo:GARD_12442 Charcot-Marie-Tooth disease type 4H skos:exactMatch Orphanet:99954 semapv:UnspecifiedMatching +obo:GARD_12442 Charcot-Marie-Tooth disease type 4H skos:narrowMatch OMIM:609311 semapv:UnspecifiedMatching +obo:GARD_12443 Charcot-Marie-Tooth disease type 4J skos:exactMatch Orphanet:139515 semapv:UnspecifiedMatching +obo:GARD_12443 Charcot-Marie-Tooth disease type 4J skos:narrowMatch OMIM:611228 semapv:UnspecifiedMatching +obo:GARD_12444 X-linked Charcot-Marie-Tooth disease skos:exactMatch Orphanet:64747 semapv:UnspecifiedMatching +obo:GARD_12445 X-linked Charcot-Marie-Tooth disease type 6 skos:exactMatch Orphanet:352675 semapv:UnspecifiedMatching +obo:GARD_12445 X-linked Charcot-Marie-Tooth disease type 6 skos:narrowMatch OMIM:300905 semapv:UnspecifiedMatching +obo:GARD_12446 Autosomal dominant Charcot-Marie-Tooth disease type 2Q skos:exactMatch Orphanet:329258 semapv:UnspecifiedMatching +obo:GARD_12446 Autosomal dominant Charcot-Marie-Tooth disease type 2Q skos:narrowMatch OMIM:615025 semapv:UnspecifiedMatching +obo:GARD_12447 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons skos:exactMatch Orphanet:401964 semapv:UnspecifiedMatching +obo:GARD_12447 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons skos:narrowMatch OMIM:610100 semapv:UnspecifiedMatching +obo:GARD_12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:exactMatch Orphanet:101097 semapv:UnspecifiedMatching +obo:GARD_12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:narrowMatch OMIM:607706 semapv:UnspecifiedMatching +obo:GARD_12448 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness skos:narrowMatch OMIM:607831 semapv:UnspecifiedMatching +obo:GARD_12449 Autosomal recessive axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:91024 semapv:UnspecifiedMatching +obo:GARD_1245 Charcot-Marie-Tooth disease type 1A skos:exactMatch Orphanet:101081 semapv:UnspecifiedMatching +obo:GARD_1245 Charcot-Marie-Tooth disease type 1A skos:narrowMatch OMIM:118220 semapv:UnspecifiedMatching +obo:GARD_12451 Charcot-Marie-Tooth disease type 2R skos:exactMatch Orphanet:397968 semapv:UnspecifiedMatching +obo:GARD_12451 Charcot-Marie-Tooth disease type 2R skos:narrowMatch OMIM:615490 semapv:UnspecifiedMatching +obo:GARD_12452 Autosomal recessive intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:268337 semapv:UnspecifiedMatching +obo:GARD_12453 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:exactMatch Orphanet:217055 semapv:UnspecifiedMatching +obo:GARD_12453 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A skos:narrowMatch OMIM:608340 semapv:UnspecifiedMatching +obo:GARD_12454 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B skos:exactMatch Orphanet:254334 semapv:UnspecifiedMatching +obo:GARD_12454 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B skos:narrowMatch OMIM:613641 semapv:UnspecifiedMatching +obo:GARD_12458 Sickle cell-hemoglobin D disease syndrome skos:exactMatch Orphanet:251370 semapv:UnspecifiedMatching +obo:GARD_12459 Sickle cell disease associated with another hemoglobin anomaly skos:exactMatch Orphanet:251355 semapv:UnspecifiedMatching +obo:GARD_1246 Charcot-Marie-Tooth disease type 1B skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching +obo:GARD_1246 Charcot-Marie-Tooth disease type 1B skos:narrowMatch OMIM:118200 semapv:UnspecifiedMatching +obo:GARD_12469 Glutaric acidemia type 3 skos:exactMatch Orphanet:35706 semapv:UnspecifiedMatching +obo:GARD_12469 Glutaric acidemia type 3 skos:narrowMatch OMIM:231690 semapv:UnspecifiedMatching +obo:GARD_1247 Charcot-Marie-Tooth disease type 1C skos:exactMatch Orphanet:101083 semapv:UnspecifiedMatching +obo:GARD_1247 Charcot-Marie-Tooth disease type 1C skos:narrowMatch OMIM:601098 semapv:UnspecifiedMatching +obo:GARD_12470 Peroxisomal beta-oxidation disorder skos:exactMatch Orphanet:79188 semapv:UnspecifiedMatching +obo:GARD_12471 Leukoencephalopathy-dystonia-motor neuropathy syndrome skos:exactMatch Orphanet:163684 semapv:UnspecifiedMatching +obo:GARD_12471 Leukoencephalopathy-dystonia-motor neuropathy syndrome skos:narrowMatch OMIM:613724 semapv:UnspecifiedMatching +obo:GARD_12472 CADDS skos:exactMatch Orphanet:369942 semapv:UnspecifiedMatching +obo:GARD_12472 CADDS skos:narrowMatch OMIM:300475 semapv:UnspecifiedMatching +obo:GARD_12474 Periodontal Ehlers-Danlos syndrome skos:exactMatch Orphanet:75392 semapv:UnspecifiedMatching +obo:GARD_12474 Periodontal Ehlers-Danlos syndrome skos:narrowMatch OMIM:130080 semapv:UnspecifiedMatching +obo:GARD_12474 Periodontal Ehlers-Danlos syndrome skos:narrowMatch OMIM:617174 semapv:UnspecifiedMatching +obo:GARD_12476 Disorder of peroxisomal alpha-, beta- and omega-oxidation skos:exactMatch Orphanet:309810 semapv:UnspecifiedMatching +obo:GARD_12478 Bleeding disorder due to P2Y12 defect skos:exactMatch Orphanet:36355 semapv:UnspecifiedMatching +obo:GARD_12478 Bleeding disorder due to P2Y12 defect skos:narrowMatch OMIM:609821 semapv:UnspecifiedMatching +obo:GARD_1248 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:exactMatch Orphanet:99946 semapv:UnspecifiedMatching +obo:GARD_1248 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 skos:narrowMatch OMIM:118210 semapv:UnspecifiedMatching +obo:GARD_12480 Tetrasomy 21 skos:exactMatch Orphanet:96055 semapv:UnspecifiedMatching +obo:GARD_12483 Cor triatriatum dexter skos:exactMatch Orphanet:99098 semapv:UnspecifiedMatching +obo:GARD_12484 Cor triatriatum sinister skos:exactMatch Orphanet:99099 semapv:UnspecifiedMatching +obo:GARD_12486 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch Orphanet:52055 semapv:UnspecifiedMatching +obo:GARD_12486 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:narrowMatch OMIM:300472 semapv:UnspecifiedMatching +obo:GARD_12487 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch Orphanet:1495 semapv:UnspecifiedMatching +obo:GARD_1249 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching +obo:GARD_1249 Charcot-Marie-Tooth disease type 2B2 skos:narrowMatch OMIM:605589 semapv:UnspecifiedMatching +obo:GARD_12491 X-linked lissencephaly with abnormal genitalia skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching +obo:GARD_12491 X-linked lissencephaly with abnormal genitalia skos:narrowMatch OMIM:300215 semapv:UnspecifiedMatching +obo:GARD_12492 20p12.3 microdeletion syndrome skos:exactMatch Orphanet:261295 semapv:UnspecifiedMatching +obo:GARD_12494 Aromatase excess syndrome skos:exactMatch Orphanet:178345 semapv:UnspecifiedMatching +obo:GARD_12494 Aromatase excess syndrome skos:narrowMatch OMIM:139300 semapv:UnspecifiedMatching +obo:GARD_125 Acrokeratoelastoidosis of Costa skos:exactMatch Orphanet:38 semapv:UnspecifiedMatching +obo:GARD_125 Acrokeratoelastoidosis of Costa skos:narrowMatch OMIM:101850 semapv:UnspecifiedMatching +obo:GARD_1250 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:exactMatch Orphanet:99937 semapv:UnspecifiedMatching +obo:GARD_1250 Autosomal dominant Charcot-Marie-Tooth disease type 2C skos:narrowMatch OMIM:606071 semapv:UnspecifiedMatching +obo:GARD_12501 Intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch Orphanet:391372 semapv:UnspecifiedMatching +obo:GARD_12501 Intellectual disability-severe speech delay-mild dysmorphism syndrome skos:narrowMatch OMIM:613670 semapv:UnspecifiedMatching +obo:GARD_12502 Male infertility due to globozoospermia skos:exactMatch Orphanet:171709 semapv:UnspecifiedMatching +obo:GARD_12502 Male infertility due to globozoospermia skos:narrowMatch OMIM:102530 semapv:UnspecifiedMatching +obo:GARD_12502 Male infertility due to globozoospermia skos:narrowMatch OMIM:613958 semapv:UnspecifiedMatching +obo:GARD_12503 Atypical Gaucher disease due to saposin C deficiency skos:exactMatch Orphanet:309252 semapv:UnspecifiedMatching +obo:GARD_12503 Atypical Gaucher disease due to saposin C deficiency skos:narrowMatch OMIM:610539 semapv:UnspecifiedMatching +obo:GARD_12504 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching +obo:GARD_12504 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:narrowMatch OMIM:231005 semapv:UnspecifiedMatching +obo:GARD_12505 Encephalopathy due to prosaposin deficiency skos:exactMatch Orphanet:139406 semapv:UnspecifiedMatching +obo:GARD_12505 Encephalopathy due to prosaposin deficiency skos:narrowMatch OMIM:611721 semapv:UnspecifiedMatching +obo:GARD_1251 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching +obo:GARD_1251 Autosomal dominant Charcot-Marie-Tooth disease type 2D skos:narrowMatch OMIM:601472 semapv:UnspecifiedMatching +obo:GARD_12510 Gangliosidosis skos:exactMatch Orphanet:309144 semapv:UnspecifiedMatching +obo:GARD_12511 Lipid storage disease skos:exactMatch Orphanet:79204 semapv:UnspecifiedMatching +obo:GARD_12513 Male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 semapv:UnspecifiedMatching +obo:GARD_1252 Charcot-Marie-Tooth disease type 4A skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching +obo:GARD_1252 Charcot-Marie-Tooth disease type 4A skos:narrowMatch OMIM:214400 semapv:UnspecifiedMatching +obo:GARD_12521 IgG4-related disease skos:exactMatch Orphanet:284264 semapv:UnspecifiedMatching +obo:GARD_12524 L1 syndrome skos:exactMatch Orphanet:275543 semapv:UnspecifiedMatching +obo:GARD_12524 L1 syndrome skos:narrowMatch OMIM:303350 semapv:UnspecifiedMatching +obo:GARD_12524 L1 syndrome skos:narrowMatch OMIM:304100 semapv:UnspecifiedMatching +obo:GARD_12524 L1 syndrome skos:narrowMatch OMIM:307000 semapv:UnspecifiedMatching +obo:GARD_12525 X-linked complicated spastic paraplegia type 1 skos:exactMatch Orphanet:306617 semapv:UnspecifiedMatching +obo:GARD_12526 X-linked complicated corpus callosum dysgenesis skos:exactMatch Orphanet:1497 semapv:UnspecifiedMatching +obo:GARD_12526 X-linked complicated corpus callosum dysgenesis skos:narrowMatch OMIM:304100 semapv:UnspecifiedMatching +obo:GARD_12528 DNAJB6-related limb-girdle muscular dystrophy D1 skos:exactMatch Orphanet:34516 semapv:UnspecifiedMatching +obo:GARD_12528 DNAJB6-related limb-girdle muscular dystrophy D1 skos:narrowMatch OMIM:603511 semapv:UnspecifiedMatching +obo:GARD_1253 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch Orphanet:99955 semapv:UnspecifiedMatching +obo:GARD_1253 Charcot-Marie-Tooth disease type 4B1 skos:narrowMatch OMIM:601382 semapv:UnspecifiedMatching +obo:GARD_12530 TNP03-related limb-girdle muscular dystrophy D2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching +obo:GARD_12530 TNP03-related limb-girdle muscular dystrophy D2 skos:narrowMatch OMIM:608423 semapv:UnspecifiedMatching +obo:GARD_12531 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:exactMatch Orphanet:55596 semapv:UnspecifiedMatching +obo:GARD_12531 HNRNPDL-related limb-girdle muscular dystrophy D3 skos:narrowMatch OMIM:609115 semapv:UnspecifiedMatching +obo:GARD_12532 Autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch Orphanet:238755 semapv:UnspecifiedMatching +obo:GARD_12532 Autosomal dominant limb-girdle muscular dystrophy type 1H skos:narrowMatch OMIM:613530 semapv:UnspecifiedMatching +obo:GARD_12533 FKRP-related limb-girdle muscular dystrophy R9 skos:exactMatch Orphanet:34515 semapv:UnspecifiedMatching +obo:GARD_12533 FKRP-related limb-girdle muscular dystrophy R9 skos:narrowMatch OMIM:607155 semapv:UnspecifiedMatching +obo:GARD_12534 Titin-related limb-girdle muscular dystrophy R10 skos:exactMatch Orphanet:140922 semapv:UnspecifiedMatching +obo:GARD_12534 Titin-related limb-girdle muscular dystrophy R10 skos:narrowMatch OMIM:608807 semapv:UnspecifiedMatching +obo:GARD_12535 POMT1-related limb-girdle muscular dystrophy R11 skos:exactMatch Orphanet:86812 semapv:UnspecifiedMatching +obo:GARD_12535 POMT1-related limb-girdle muscular dystrophy R11 skos:narrowMatch OMIM:609308 semapv:UnspecifiedMatching +obo:GARD_12536 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:exactMatch Orphanet:206549 semapv:UnspecifiedMatching +obo:GARD_12536 Anoctamin-5-related limb-girdle muscular dystrophy R12 skos:narrowMatch OMIM:611307 semapv:UnspecifiedMatching +obo:GARD_12538 Fukutin-related limb-girdle muscular dystrophy R13 skos:exactMatch Orphanet:206554 semapv:UnspecifiedMatching +obo:GARD_12538 Fukutin-related limb-girdle muscular dystrophy R13 skos:narrowMatch OMIM:611588 semapv:UnspecifiedMatching +obo:GARD_12539 POMT2-related limb-girdle muscular dystrophy R14 skos:exactMatch Orphanet:206559 semapv:UnspecifiedMatching +obo:GARD_12539 POMT2-related limb-girdle muscular dystrophy R14 skos:narrowMatch OMIM:613158 semapv:UnspecifiedMatching +obo:GARD_12540 POMGNT1-related limb-girdle muscular dystrophy R15 skos:exactMatch Orphanet:206564 semapv:UnspecifiedMatching +obo:GARD_12540 POMGNT1-related limb-girdle muscular dystrophy R15 skos:narrowMatch OMIM:613157 semapv:UnspecifiedMatching +obo:GARD_12541 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 skos:exactMatch Orphanet:280333 semapv:UnspecifiedMatching +obo:GARD_12541 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 skos:narrowMatch OMIM:613818 semapv:UnspecifiedMatching +obo:GARD_12542 Plectin-related limb-girdle muscular dystrophy R17 skos:exactMatch Orphanet:254361 semapv:UnspecifiedMatching +obo:GARD_12542 Plectin-related limb-girdle muscular dystrophy R17 skos:narrowMatch OMIM:613723 semapv:UnspecifiedMatching +obo:GARD_12543 TRAPPC11-related limb-girdle muscular dystrophy R18 skos:exactMatch Orphanet:369840 semapv:UnspecifiedMatching +obo:GARD_12543 TRAPPC11-related limb-girdle muscular dystrophy R18 skos:narrowMatch OMIM:615356 semapv:UnspecifiedMatching +obo:GARD_12544 GMPPB-related limb-girdle muscular dystrophy R19 skos:exactMatch Orphanet:363623 semapv:UnspecifiedMatching +obo:GARD_12544 GMPPB-related limb-girdle muscular dystrophy R19 skos:narrowMatch OMIM:615352 semapv:UnspecifiedMatching +obo:GARD_12547 Selective IgM deficiency skos:exactMatch Orphanet:331235 semapv:UnspecifiedMatching +obo:GARD_12550 Isolated congenital adermatoglyphia skos:exactMatch Orphanet:289465 semapv:UnspecifiedMatching +obo:GARD_12550 Isolated congenital adermatoglyphia skos:narrowMatch OMIM:136000 semapv:UnspecifiedMatching +obo:GARD_12551 Familial congenital mirror movements skos:exactMatch Orphanet:238722 semapv:UnspecifiedMatching +obo:GARD_12551 Familial congenital mirror movements skos:narrowMatch OMIM:157600 semapv:UnspecifiedMatching +obo:GARD_12551 Familial congenital mirror movements skos:narrowMatch OMIM:614508 semapv:UnspecifiedMatching +obo:GARD_12551 Familial congenital mirror movements skos:narrowMatch OMIM:616059 semapv:UnspecifiedMatching +obo:GARD_12551 Familial congenital mirror movements skos:narrowMatch OMIM:618264 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:exactMatch Orphanet:631 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:173100 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:262400 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:262650 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:300123 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:307200 semapv:UnspecifiedMatching +obo:GARD_12556 Non-acquired isolated growth hormone deficiency skos:narrowMatch OMIM:612781 semapv:UnspecifiedMatching +obo:GARD_12558 Intellectual developmental disorder, autosomal dominant 5 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_12558 Intellectual developmental disorder, autosomal dominant 5 skos:exactMatch OMIM:612621 semapv:UnspecifiedMatching +obo:GARD_12559 Hurler syndrome skos:exactMatch Orphanet:93473 semapv:UnspecifiedMatching +obo:GARD_12559 Hurler syndrome skos:narrowMatch OMIM:607014 semapv:UnspecifiedMatching +obo:GARD_12560 Hurler-Scheie syndrome skos:exactMatch Orphanet:93476 semapv:UnspecifiedMatching +obo:GARD_12560 Hurler-Scheie syndrome skos:narrowMatch OMIM:607015 semapv:UnspecifiedMatching +obo:GARD_12561 Scheie syndrome skos:exactMatch Orphanet:93474 semapv:UnspecifiedMatching +obo:GARD_12561 Scheie syndrome skos:narrowMatch OMIM:607016 semapv:UnspecifiedMatching +obo:GARD_12562 Mucopolysaccharidosis type 4 skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching +obo:GARD_12562 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:252300 semapv:UnspecifiedMatching +obo:GARD_12562 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:253000 semapv:UnspecifiedMatching +obo:GARD_12562 Mucopolysaccharidosis type 4 skos:narrowMatch OMIM:253010 semapv:UnspecifiedMatching +obo:GARD_12567 PLA2G6-associated neurodegeneration skos:exactMatch Orphanet:329303 semapv:UnspecifiedMatching +obo:GARD_12568 Adult-onset dystonia-parkinsonism skos:exactMatch Orphanet:199351 semapv:UnspecifiedMatching +obo:GARD_12568 Adult-onset dystonia-parkinsonism skos:narrowMatch OMIM:612953 semapv:UnspecifiedMatching +obo:GARD_12569 Mitochondrial membrane protein-associated neurodegeneration skos:exactMatch Orphanet:289560 semapv:UnspecifiedMatching +obo:GARD_12569 Mitochondrial membrane protein-associated neurodegeneration skos:narrowMatch OMIM:614298 semapv:UnspecifiedMatching +obo:GARD_12570 Beta-propeller protein-associated neurodegeneration skos:exactMatch Orphanet:329284 semapv:UnspecifiedMatching +obo:GARD_12570 Beta-propeller protein-associated neurodegeneration skos:narrowMatch OMIM:300894 semapv:UnspecifiedMatching +obo:GARD_12571 COASY protein-associated neurodegeneration skos:exactMatch Orphanet:397725 semapv:UnspecifiedMatching +obo:GARD_12571 COASY protein-associated neurodegeneration skos:narrowMatch OMIM:615643 semapv:UnspecifiedMatching +obo:GARD_1258 X-linked Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:101075 semapv:UnspecifiedMatching +obo:GARD_1258 X-linked Charcot-Marie-Tooth disease type 1 skos:narrowMatch OMIM:302800 semapv:UnspecifiedMatching +obo:GARD_12584 Congenital muscular dystrophy due to dystroglycanopathy skos:exactMatch Orphanet:370953 semapv:UnspecifiedMatching +obo:GARD_12585 Congenital muscular dystrophy due to LMNA mutation skos:exactMatch Orphanet:157973 semapv:UnspecifiedMatching +obo:GARD_12585 Congenital muscular dystrophy due to LMNA mutation skos:narrowMatch OMIM:613205 semapv:UnspecifiedMatching +obo:GARD_12586 Congenital muscular dystrophy type 1B skos:exactMatch Orphanet:98893 semapv:UnspecifiedMatching +obo:GARD_12586 Congenital muscular dystrophy type 1B skos:narrowMatch OMIM:604801 semapv:UnspecifiedMatching +obo:GARD_12587 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:exactMatch Orphanet:34520 semapv:UnspecifiedMatching +obo:GARD_12587 Congenital muscular dystrophy with integrin alpha-7 deficiency skos:narrowMatch OMIM:613204 semapv:UnspecifiedMatching +obo:GARD_12588 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies skos:exactMatch Orphanet:352687 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:exactMatch Orphanet:45358 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:135700 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:600638 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:602078 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609384 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609428 semapv:UnspecifiedMatching +obo:GARD_12590 Congenital fibrosis of extraocular muscles skos:narrowMatch OMIM:609612 semapv:UnspecifiedMatching +obo:GARD_12591 Hereditary myopathy with early respiratory failure skos:exactMatch Orphanet:178464 semapv:UnspecifiedMatching +obo:GARD_12591 Hereditary myopathy with early respiratory failure skos:narrowMatch OMIM:603689 semapv:UnspecifiedMatching +obo:GARD_12592 Oculopharyngodistal myopathy skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching +obo:GARD_12592 Oculopharyngodistal myopathy skos:narrowMatch OMIM:164310 semapv:UnspecifiedMatching +obo:GARD_12592 Oculopharyngodistal myopathy skos:narrowMatch OMIM:618940 semapv:UnspecifiedMatching +obo:GARD_12596 Primary lipodystrophy skos:exactMatch Orphanet:90970 semapv:UnspecifiedMatching +obo:GARD_12597 Genetic lipodystrophy skos:exactMatch Orphanet:98305 semapv:UnspecifiedMatching +obo:GARD_12598 Familial partial lipodystrophy, Köbberling type skos:exactMatch Orphanet:79084 semapv:UnspecifiedMatching +obo:GARD_12598 Familial partial lipodystrophy, Köbberling type skos:narrowMatch OMIM:608600 semapv:UnspecifiedMatching +obo:GARD_12599 AKT2-related familial partial lipodystrophy skos:exactMatch Orphanet:79085 semapv:UnspecifiedMatching +obo:GARD_12600 PPARG-related familial partial lipodystrophy skos:exactMatch Orphanet:79083 semapv:UnspecifiedMatching +obo:GARD_12600 PPARG-related familial partial lipodystrophy skos:narrowMatch OMIM:604367 semapv:UnspecifiedMatching +obo:GARD_12601 PLIN1-related familial partial lipodystrophy skos:exactMatch Orphanet:280356 semapv:UnspecifiedMatching +obo:GARD_12601 PLIN1-related familial partial lipodystrophy skos:narrowMatch OMIM:613877 semapv:UnspecifiedMatching +obo:GARD_12602 Acquired lipodystrophy skos:exactMatch Orphanet:98307 semapv:UnspecifiedMatching +obo:GARD_12603 Acquired generalized lipodystrophy skos:exactMatch Orphanet:79086 semapv:UnspecifiedMatching +obo:GARD_12604 Lipodystrophy due to peptidic growth factors deficiency skos:exactMatch Orphanet:1979 semapv:UnspecifiedMatching +obo:GARD_12604 Lipodystrophy due to peptidic growth factors deficiency skos:narrowMatch OMIM:233805 semapv:UnspecifiedMatching +obo:GARD_1261 Charlie M syndrome skos:exactMatch Orphanet:1406 semapv:UnspecifiedMatching +obo:GARD_12610 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:157965 semapv:UnspecifiedMatching +obo:GARD_12610 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:612350 semapv:UnspecifiedMatching +obo:GARD_12613 Cardiac-valvular Ehlers-Danlos syndrome skos:exactMatch Orphanet:230851 semapv:UnspecifiedMatching +obo:GARD_12613 Cardiac-valvular Ehlers-Danlos syndrome skos:narrowMatch OMIM:225320 semapv:UnspecifiedMatching +obo:GARD_12621 Methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch Orphanet:369955 semapv:UnspecifiedMatching +obo:GARD_12621 Methylmalonic acidemia with homocystinuria, type cblJ skos:narrowMatch OMIM:614857 semapv:UnspecifiedMatching +obo:GARD_12623 Vitamin B12-responsive methylmalonic acidemia skos:exactMatch Orphanet:28 semapv:UnspecifiedMatching +obo:GARD_12623 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:251100 semapv:UnspecifiedMatching +obo:GARD_12623 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:251110 semapv:UnspecifiedMatching +obo:GARD_12623 Vitamin B12-responsive methylmalonic acidemia skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +obo:GARD_12631 Stapes ankylosis with broad thumbs and toes skos:exactMatch Orphanet:140917 semapv:UnspecifiedMatching +obo:GARD_12631 Stapes ankylosis with broad thumbs and toes skos:narrowMatch OMIM:184460 semapv:UnspecifiedMatching +obo:GARD_12632 Multiple mitochondrial dysfunctions syndrome skos:exactMatch Orphanet:289573 semapv:UnspecifiedMatching +obo:GARD_12635 Laurence-Moon syndrome skos:exactMatch Orphanet:2377 semapv:UnspecifiedMatching +obo:GARD_12635 Laurence-Moon syndrome skos:narrowMatch OMIM:245800 semapv:UnspecifiedMatching +obo:GARD_12638 Bacterial susceptibility due to TLR signaling pathway deficiency skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching +obo:GARD_12638 Bacterial susceptibility due to TLR signaling pathway deficiency skos:narrowMatch OMIM:612260 semapv:UnspecifiedMatching +obo:GARD_12640 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome skos:exactMatch Orphanet:306542 semapv:UnspecifiedMatching +obo:GARD_12640 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome skos:narrowMatch OMIM:613456 semapv:UnspecifiedMatching +obo:GARD_12641 Frontonasal dysplasia-alopecia-genital anomalies syndrome skos:exactMatch Orphanet:228390 semapv:UnspecifiedMatching +obo:GARD_12641 Frontonasal dysplasia-alopecia-genital anomalies syndrome skos:narrowMatch OMIM:613451 semapv:UnspecifiedMatching +obo:GARD_12642 Frontorhiny skos:exactMatch Orphanet:391474 semapv:UnspecifiedMatching +obo:GARD_12642 Frontorhiny skos:narrowMatch OMIM:136760 semapv:UnspecifiedMatching +obo:GARD_12643 Lethal congenital contracture syndrome skos:exactMatch Orphanet:294965 semapv:UnspecifiedMatching +obo:GARD_12644 Lethal congenital contracture syndrome type 3 skos:exactMatch Orphanet:137783 semapv:UnspecifiedMatching +obo:GARD_12644 Lethal congenital contracture syndrome type 3 skos:narrowMatch OMIM:611369 semapv:UnspecifiedMatching +obo:GARD_12644 Lethal congenital contracture syndrome type 3 skos:narrowMatch OMIM:614915 semapv:UnspecifiedMatching +obo:GARD_12645 Lethal congenital contracture syndrome 4 skos:broadMatch Orphanet:137783 semapv:UnspecifiedMatching +obo:GARD_12645 Lethal congenital contracture syndrome 4 skos:exactMatch OMIM:614915 semapv:UnspecifiedMatching +obo:GARD_12648 Isolated congenital megalocornea skos:exactMatch Orphanet:91489 semapv:UnspecifiedMatching +obo:GARD_12648 Isolated congenital megalocornea skos:narrowMatch OMIM:309300 semapv:UnspecifiedMatching +obo:GARD_12650 Amoebiasis due to free-living amoebae skos:exactMatch Orphanet:68 semapv:UnspecifiedMatching +obo:GARD_12652 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch Orphanet:137898 semapv:UnspecifiedMatching +obo:GARD_12652 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:narrowMatch OMIM:611105 semapv:UnspecifiedMatching +obo:GARD_12653 DOCK2 deficiency skos:exactMatch Orphanet:447737 semapv:UnspecifiedMatching +obo:GARD_12653 DOCK2 deficiency skos:narrowMatch OMIM:616433 semapv:UnspecifiedMatching +obo:GARD_12656 Castleman disease skos:exactMatch Orphanet:160 semapv:UnspecifiedMatching +obo:GARD_12656 Castleman disease skos:narrowMatch OMIM:148000 semapv:UnspecifiedMatching +obo:GARD_12662 Cerebrofacial arteriovenous metameric syndrome skos:exactMatch Orphanet:141189 semapv:UnspecifiedMatching +obo:GARD_12663 Facial arteriovenous malformation skos:exactMatch Orphanet:156230 semapv:UnspecifiedMatching +obo:GARD_12664 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch Orphanet:95699 semapv:UnspecifiedMatching +obo:GARD_12664 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:narrowMatch OMIM:613571 semapv:UnspecifiedMatching +obo:GARD_12665 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 semapv:UnspecifiedMatching +obo:GARD_12665 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:narrowMatch OMIM:201910 semapv:UnspecifiedMatching +obo:GARD_12669 X-linked intellectual disability, Najm type skos:exactMatch Orphanet:163937 semapv:UnspecifiedMatching +obo:GARD_12669 X-linked intellectual disability, Najm type skos:narrowMatch OMIM:300749 semapv:UnspecifiedMatching +obo:GARD_12673 Actinic lichen planus skos:exactMatch Orphanet:254395 semapv:UnspecifiedMatching +obo:GARD_12674 Annular lichen planus skos:exactMatch Orphanet:254424 semapv:UnspecifiedMatching +obo:GARD_12675 Atrophic lichen planus skos:exactMatch Orphanet:254449 semapv:UnspecifiedMatching +obo:GARD_12676 Annular atrophic lichen planus skos:exactMatch Orphanet:254411 semapv:UnspecifiedMatching +obo:GARD_12677 Lichen planus pemphigoides skos:exactMatch Orphanet:254478 semapv:UnspecifiedMatching +obo:GARD_12678 Lipoic acid synthetase deficiency skos:exactMatch Orphanet:401859 semapv:UnspecifiedMatching +obo:GARD_12678 Lipoic acid synthetase deficiency skos:narrowMatch OMIM:614462 semapv:UnspecifiedMatching +obo:GARD_12679 Lipoic acid biosynthesis defect skos:exactMatch Orphanet:401854 semapv:UnspecifiedMatching +obo:GARD_12680 Lipoyl transferase 1 deficiency skos:exactMatch Orphanet:401862 semapv:UnspecifiedMatching +obo:GARD_12680 Lipoyl transferase 1 deficiency skos:narrowMatch OMIM:616299 semapv:UnspecifiedMatching +obo:GARD_12681 Childhood-onset spasticity with hyperglycinemia skos:exactMatch Orphanet:401866 semapv:UnspecifiedMatching +obo:GARD_12681 Childhood-onset spasticity with hyperglycinemia skos:narrowMatch OMIM:616859 semapv:UnspecifiedMatching +obo:GARD_12682 Horizontal gaze palsy with progressive scoliosis skos:exactMatch Orphanet:2744 semapv:UnspecifiedMatching +obo:GARD_12682 Horizontal gaze palsy with progressive scoliosis skos:narrowMatch OMIM:607313 semapv:UnspecifiedMatching +obo:GARD_12682 Horizontal gaze palsy with progressive scoliosis skos:narrowMatch OMIM:617542 semapv:UnspecifiedMatching +obo:GARD_12683 Distal hereditary motor neuropathy skos:exactMatch Orphanet:53739 semapv:UnspecifiedMatching +obo:GARD_12684 Familial episodic pain syndrome skos:exactMatch Orphanet:391384 semapv:UnspecifiedMatching +obo:GARD_12684 Familial episodic pain syndrome skos:narrowMatch OMIM:615040 semapv:UnspecifiedMatching +obo:GARD_12684 Familial episodic pain syndrome skos:narrowMatch OMIM:615552 semapv:UnspecifiedMatching +obo:GARD_12686 Diffuse cutaneous mastocytosis skos:exactMatch Orphanet:79456 semapv:UnspecifiedMatching +obo:GARD_12687 Cutaneous mastocytoma skos:exactMatch Orphanet:79455 semapv:UnspecifiedMatching +obo:GARD_12688 Hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140471 semapv:UnspecifiedMatching +obo:GARD_12697 Tumor of cranial and spinal nerves skos:exactMatch Orphanet:252057 semapv:UnspecifiedMatching +obo:GARD_12698 Perineurioma skos:exactMatch Orphanet:85102 semapv:UnspecifiedMatching +obo:GARD_127 Summitt syndrome skos:exactMatch Orphanet:3210 semapv:UnspecifiedMatching +obo:GARD_127 Summitt syndrome skos:narrowMatch OMIM:272350 semapv:UnspecifiedMatching +obo:GARD_12703 Osteochondritis dissecans skos:exactMatch Orphanet:2764 semapv:UnspecifiedMatching +obo:GARD_12704 Osteochondrosis skos:exactMatch Orphanet:399319 semapv:UnspecifiedMatching +obo:GARD_12706 Painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 semapv:UnspecifiedMatching +obo:GARD_12713 Congenital laryngeal palsy skos:exactMatch Orphanet:137932 semapv:UnspecifiedMatching +obo:GARD_12715 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching +obo:GARD_12715 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:narrowMatch OMIM:300958 semapv:UnspecifiedMatching +obo:GARD_12716 Elastoderma skos:exactMatch Orphanet:228240 semapv:UnspecifiedMatching +obo:GARD_12718 Autosomal recessive centronuclear myopathy skos:exactMatch Orphanet:169186 semapv:UnspecifiedMatching +obo:GARD_12718 Autosomal recessive centronuclear myopathy skos:narrowMatch OMIM:255200 semapv:UnspecifiedMatching +obo:GARD_12718 Autosomal recessive centronuclear myopathy skos:narrowMatch OMIM:615959 semapv:UnspecifiedMatching +obo:GARD_12719 Autosomal dominant centronuclear myopathy skos:exactMatch Orphanet:169189 semapv:UnspecifiedMatching +obo:GARD_12719 Autosomal dominant centronuclear myopathy skos:narrowMatch OMIM:160150 semapv:UnspecifiedMatching +obo:GARD_12720 Fingerprint body myopathy skos:exactMatch Orphanet:97232 semapv:UnspecifiedMatching +obo:GARD_12720 Fingerprint body myopathy skos:narrowMatch OMIM:305550 semapv:UnspecifiedMatching +obo:GARD_12722 Familial dyskinesia and facial myokymia skos:exactMatch Orphanet:324588 semapv:UnspecifiedMatching +obo:GARD_12722 Familial dyskinesia and facial myokymia skos:narrowMatch OMIM:606703 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:300049 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:608097 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:608098 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:612881 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:615544 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:617201 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:618185 semapv:UnspecifiedMatching +obo:GARD_12724 Periventricular nodular heterotopia skos:narrowMatch OMIM:618918 semapv:UnspecifiedMatching +obo:GARD_12731 X-linked hereditary sensory and autonomic neuropathy with deafness skos:exactMatch Orphanet:139583 semapv:UnspecifiedMatching +obo:GARD_12731 X-linked hereditary sensory and autonomic neuropathy with deafness skos:narrowMatch OMIM:300614 semapv:UnspecifiedMatching +obo:GARD_12732 Hereditary sensory and autonomic neuropathy type 7 skos:exactMatch Orphanet:391397 semapv:UnspecifiedMatching +obo:GARD_12732 Hereditary sensory and autonomic neuropathy type 7 skos:narrowMatch OMIM:615548 semapv:UnspecifiedMatching +obo:GARD_12733 Rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 semapv:UnspecifiedMatching +obo:GARD_12736 Glomerular disease skos:exactMatch Orphanet:93548 semapv:UnspecifiedMatching +obo:GARD_1274 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch Orphanet:2888 semapv:UnspecifiedMatching +obo:GARD_1274 Pierre Robin syndrome-faciodigital anomaly syndrome skos:narrowMatch OMIM:311895 semapv:UnspecifiedMatching +obo:GARD_12740 Non-amyloid fibrillary glomerulopathy skos:exactMatch Orphanet:97566 semapv:UnspecifiedMatching +obo:GARD_12741 Immunotactoid or fibrillary glomerulopathy skos:exactMatch Orphanet:91137 semapv:UnspecifiedMatching +obo:GARD_12742 Juvenile polymyositis skos:exactMatch Orphanet:93568 semapv:UnspecifiedMatching +obo:GARD_12744 Chronic intestinal pseudoobstruction skos:exactMatch Orphanet:2978 semapv:UnspecifiedMatching +obo:GARD_12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:243180 semapv:UnspecifiedMatching +obo:GARD_12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:300048 semapv:UnspecifiedMatching +obo:GARD_12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:601223 semapv:UnspecifiedMatching +obo:GARD_12744 Chronic intestinal pseudoobstruction skos:narrowMatch OMIM:609629 semapv:UnspecifiedMatching +obo:GARD_12749 Autosomal recessive spastic paraplegia type 32 skos:exactMatch Orphanet:171622 semapv:UnspecifiedMatching +obo:GARD_12749 Autosomal recessive spastic paraplegia type 32 skos:narrowMatch OMIM:611252 semapv:UnspecifiedMatching +obo:GARD_12757 Acute myeloid leukemia skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching +obo:GARD_12757 Acute myeloid leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_12758 Acute myeloid leukemia with recurrent genetic anomaly skos:exactMatch Orphanet:98277 semapv:UnspecifiedMatching +obo:GARD_12758 Acute myeloid leukemia with recurrent genetic anomaly skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_12759 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) skos:exactMatch Orphanet:402020 semapv:UnspecifiedMatching +obo:GARD_12760 Unclassified acute myeloid leukemia skos:exactMatch Orphanet:167714 semapv:UnspecifiedMatching +obo:GARD_12760 Unclassified acute myeloid leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_12761 Acute myeloid leukaemia with myelodysplasia-related features skos:exactMatch Orphanet:86845 semapv:UnspecifiedMatching +obo:GARD_12761 Acute myeloid leukaemia with myelodysplasia-related features skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_12762 Therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch Orphanet:86846 semapv:UnspecifiedMatching +obo:GARD_12762 Therapy related acute myeloid leukemia and myelodysplastic syndrome skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_12763 Myeloid sarcoma skos:exactMatch Orphanet:86850 semapv:UnspecifiedMatching +obo:GARD_12765 Transient myeloproliferative syndrome skos:exactMatch Orphanet:420611 semapv:UnspecifiedMatching +obo:GARD_12765 Transient myeloproliferative syndrome skos:narrowMatch OMIM:159595 semapv:UnspecifiedMatching +obo:GARD_12766 Microduplication Xp11.22p11.23 syndrome skos:exactMatch Orphanet:217377 semapv:UnspecifiedMatching +obo:GARD_12766 Microduplication Xp11.22p11.23 syndrome skos:narrowMatch OMIM:300801 semapv:UnspecifiedMatching +obo:GARD_12768 Reversible cerebral vasoconstriction syndrome skos:exactMatch Orphanet:284388 semapv:UnspecifiedMatching +obo:GARD_12772 Rare malignant breast tumor skos:exactMatch Orphanet:180257 semapv:UnspecifiedMatching +obo:GARD_12773 Rare adenocarcinoma of the breast skos:exactMatch Orphanet:213528 semapv:UnspecifiedMatching +obo:GARD_12774 Salivary gland type cancer of the breast skos:exactMatch Orphanet:213557 semapv:UnspecifiedMatching +obo:GARD_12775 Rare benign breast tumor skos:exactMatch Orphanet:180253 semapv:UnspecifiedMatching +obo:GARD_12777 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 skos:exactMatch Orphanet:300496 semapv:UnspecifiedMatching +obo:GARD_12777 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 skos:narrowMatch OMIM:300868 semapv:UnspecifiedMatching +obo:GARD_12779 Familial retinal arterial macroaneurysm skos:exactMatch Orphanet:284247 semapv:UnspecifiedMatching +obo:GARD_12779 Familial retinal arterial macroaneurysm skos:narrowMatch OMIM:614224 semapv:UnspecifiedMatching +obo:GARD_12781 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch Orphanet:280633 semapv:UnspecifiedMatching +obo:GARD_12781 Multiple congenital anomalies-hypotonia-seizures syndrome skos:narrowMatch OMIM:614080 semapv:UnspecifiedMatching +obo:GARD_12782 Congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 semapv:UnspecifiedMatching +obo:GARD_12784 Livedoid vasculopathy skos:exactMatch Orphanet:542643 semapv:UnspecifiedMatching +obo:GARD_12794 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form skos:exactMatch Orphanet:89842 semapv:UnspecifiedMatching +obo:GARD_12796 Dentinogenesis imperfecta type 2 skos:exactMatch Orphanet:166260 semapv:UnspecifiedMatching +obo:GARD_12796 Dentinogenesis imperfecta type 2 skos:narrowMatch OMIM:125490 semapv:UnspecifiedMatching +obo:GARD_12796 Dentinogenesis imperfecta type 2 skos:narrowMatch OMIM:605594 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:104300 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:104310 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:602096 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:604154 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:605055 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:605526 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:606187 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:606889 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:607116 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:607822 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:609636 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:609790 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611073 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611152 semapv:UnspecifiedMatching +obo:GARD_12798 Early-onset autosomal dominant Alzheimer disease skos:narrowMatch OMIM:611154 semapv:UnspecifiedMatching +obo:GARD_12799 Alzheimer disease 2 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_12799 Alzheimer disease 2 skos:exactMatch OMIM:104310 semapv:UnspecifiedMatching +obo:GARD_1280 Primary sclerosing cholangitis skos:exactMatch Orphanet:171 semapv:UnspecifiedMatching +obo:GARD_1280 Primary sclerosing cholangitis skos:narrowMatch OMIM:602114 semapv:UnspecifiedMatching +obo:GARD_1280 Primary sclerosing cholangitis skos:narrowMatch OMIM:613806 semapv:UnspecifiedMatching +obo:GARD_12800 PTEN hamartoma tumor syndrome skos:exactMatch Orphanet:306498 semapv:UnspecifiedMatching +obo:GARD_12801 Proteus-like syndrome skos:exactMatch Orphanet:2969 semapv:UnspecifiedMatching +obo:GARD_12801 Proteus-like syndrome skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +obo:GARD_12806 Autosomal dominant spondylocostal dysostosis skos:exactMatch Orphanet:1797 semapv:UnspecifiedMatching +obo:GARD_12806 Autosomal dominant spondylocostal dysostosis skos:narrowMatch OMIM:122600 semapv:UnspecifiedMatching +obo:GARD_12807 Spondylocostal dysostosis 6, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +obo:GARD_12807 Spondylocostal dysostosis 6, autosomal recessive skos:exactMatch OMIM:616566 semapv:UnspecifiedMatching +obo:GARD_12811 Multisystemic smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching +obo:GARD_12811 Multisystemic smooth muscle dysfunction syndrome skos:narrowMatch OMIM:613834 semapv:UnspecifiedMatching +obo:GARD_12814 8q24.3 microdeletion syndrome skos:exactMatch Orphanet:508488 semapv:UnspecifiedMatching +obo:GARD_12814 8q24.3 microdeletion syndrome skos:narrowMatch OMIM:615583 semapv:UnspecifiedMatching +obo:GARD_12815 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch Orphanet:363686 semapv:UnspecifiedMatching +obo:GARD_12815 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:narrowMatch OMIM:615074 semapv:UnspecifiedMatching +obo:GARD_12816 8q12 microduplication syndrome skos:exactMatch Orphanet:228399 semapv:UnspecifiedMatching +obo:GARD_12819 Generalized pustular psoriasis skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching +obo:GARD_12819 Generalized pustular psoriasis skos:narrowMatch OMIM:614204 semapv:UnspecifiedMatching +obo:GARD_12819 Generalized pustular psoriasis skos:narrowMatch OMIM:616106 semapv:UnspecifiedMatching +obo:GARD_12820 Pustulosis palmaris et plantaris skos:exactMatch Orphanet:163927 semapv:UnspecifiedMatching +obo:GARD_12821 Severe congenital nemaline myopathy skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching +obo:GARD_12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +obo:GARD_12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +obo:GARD_12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:615348 semapv:UnspecifiedMatching +obo:GARD_12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +obo:GARD_12821 Severe congenital nemaline myopathy skos:narrowMatch OMIM:616165 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:exactMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:narrowMatch OMIM:609285 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:narrowMatch OMIM:610687 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +obo:GARD_12822 Typical nemaline myopathy skos:narrowMatch OMIM:616165 semapv:UnspecifiedMatching +obo:GARD_12823 Intermediate nemaline myopathy skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching +obo:GARD_12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +obo:GARD_12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +obo:GARD_12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:609284 semapv:UnspecifiedMatching +obo:GARD_12823 Intermediate nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +obo:GARD_12824 Adult-onset nemaline myopathy skos:exactMatch Orphanet:171442 semapv:UnspecifiedMatching +obo:GARD_12825 FOXG1 syndrome skos:exactMatch Orphanet:561854 semapv:UnspecifiedMatching +obo:GARD_12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 semapv:UnspecifiedMatching +obo:GARD_12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:narrowMatch OMIM:137940 semapv:UnspecifiedMatching +obo:GARD_12827 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:narrowMatch OMIM:607823 semapv:UnspecifiedMatching +obo:GARD_12829 Pulmonary non-tuberculous mycobacterial infection skos:exactMatch Orphanet:411703 semapv:UnspecifiedMatching +obo:GARD_12832 Cardiomyopathy, dilated, 1s skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_12832 Cardiomyopathy, dilated, 1s skos:exactMatch OMIM:613426 semapv:UnspecifiedMatching +obo:GARD_12835 Acute interstitial pneumonia skos:exactMatch Orphanet:79126 semapv:UnspecifiedMatching +obo:GARD_12835 Acute interstitial pneumonia skos:narrowMatch OMIM:178500 semapv:UnspecifiedMatching +obo:GARD_12843 Disseminated peritoneal leiomyomatosis skos:exactMatch Orphanet:71274 semapv:UnspecifiedMatching +obo:GARD_12844 High myopia-sensorineural deafness syndrome skos:exactMatch Orphanet:363396 semapv:UnspecifiedMatching +obo:GARD_12844 High myopia-sensorineural deafness syndrome skos:narrowMatch OMIM:221200 semapv:UnspecifiedMatching +obo:GARD_12845 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome skos:exactMatch Orphanet:444077 semapv:UnspecifiedMatching +obo:GARD_12845 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome skos:narrowMatch OMIM:616368 semapv:UnspecifiedMatching +obo:GARD_12851 Intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_12851 Intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch OMIM:613970 semapv:UnspecifiedMatching +obo:GARD_12854 Paroxysmal extreme pain disorder skos:exactMatch Orphanet:46348 semapv:UnspecifiedMatching +obo:GARD_12854 Paroxysmal extreme pain disorder skos:narrowMatch OMIM:167400 semapv:UnspecifiedMatching +obo:GARD_12860 Spinocerebellar ataxia with axonal neuropathy type 2 skos:exactMatch Orphanet:64753 semapv:UnspecifiedMatching +obo:GARD_12860 Spinocerebellar ataxia with axonal neuropathy type 2 skos:narrowMatch OMIM:606002 semapv:UnspecifiedMatching +obo:GARD_12860 Spinocerebellar ataxia with axonal neuropathy type 2 skos:narrowMatch OMIM:615217 semapv:UnspecifiedMatching +obo:GARD_12861 RFVT3-related riboflavin transporter deficiency skos:exactMatch Orphanet:572550 semapv:UnspecifiedMatching +obo:GARD_12861 RFVT3-related riboflavin transporter deficiency skos:narrowMatch OMIM:614707 semapv:UnspecifiedMatching +obo:GARD_12862 Generalized peeling skin syndrome skos:exactMatch Orphanet:263543 semapv:UnspecifiedMatching +obo:GARD_12862 Generalized peeling skin syndrome skos:narrowMatch OMIM:270300 semapv:UnspecifiedMatching +obo:GARD_12862 Generalized peeling skin syndrome skos:narrowMatch OMIM:616265 semapv:UnspecifiedMatching +obo:GARD_12863 Acral peeling skin syndrome skos:exactMatch Orphanet:263534 semapv:UnspecifiedMatching +obo:GARD_12863 Acral peeling skin syndrome skos:narrowMatch OMIM:609796 semapv:UnspecifiedMatching +obo:GARD_12864 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency skos:exactMatch Orphanet:140905 semapv:UnspecifiedMatching +obo:GARD_12864 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency skos:narrowMatch OMIM:614025 semapv:UnspecifiedMatching +obo:GARD_12867 Cushing disease skos:exactMatch Orphanet:96253 semapv:UnspecifiedMatching +obo:GARD_12867 Cushing disease skos:narrowMatch OMIM:219090 semapv:UnspecifiedMatching +obo:GARD_12868 IRVAN syndrome skos:exactMatch Orphanet:209943 semapv:UnspecifiedMatching +obo:GARD_12874 Osteogenesis imperfecta, type x skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_12874 Osteogenesis imperfecta, type x skos:exactMatch OMIM:613848 semapv:UnspecifiedMatching +obo:GARD_12875 Osteogenesis imperfecta, type xi skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_12875 Osteogenesis imperfecta, type xi skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_12875 Osteogenesis imperfecta, type xi skos:exactMatch OMIM:610968 semapv:UnspecifiedMatching +obo:GARD_1288 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch Orphanet:79304 semapv:UnspecifiedMatching +obo:GARD_1288 Progressive familial intrahepatic cholestasis type 2 skos:narrowMatch OMIM:601847 semapv:UnspecifiedMatching +obo:GARD_1288 Progressive familial intrahepatic cholestasis type 2 skos:narrowMatch OMIM:615878 semapv:UnspecifiedMatching +obo:GARD_12889 Isolated childhood apraxia of speech skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching +obo:GARD_12889 Isolated childhood apraxia of speech skos:narrowMatch OMIM:602081 semapv:UnspecifiedMatching +obo:GARD_1289 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch Orphanet:79305 semapv:UnspecifiedMatching +obo:GARD_1289 Progressive familial intrahepatic cholestasis type 3 skos:narrowMatch OMIM:602347 semapv:UnspecifiedMatching +obo:GARD_12892 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch Orphanet:352563 semapv:UnspecifiedMatching +obo:GARD_12892 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:narrowMatch OMIM:615395 semapv:UnspecifiedMatching +obo:GARD_12893 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch Orphanet:314051 semapv:UnspecifiedMatching +obo:GARD_12893 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:narrowMatch OMIM:614924 semapv:UnspecifiedMatching +obo:GARD_12894 Zika virus disease skos:exactMatch Orphanet:448237 semapv:UnspecifiedMatching +obo:GARD_12900 Developmental and epileptic encephalopathy 4 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_12900 Developmental and epileptic encephalopathy 4 skos:broadMatch Orphanet:33069 semapv:UnspecifiedMatching +obo:GARD_12900 Developmental and epileptic encephalopathy 4 skos:exactMatch OMIM:612164 semapv:UnspecifiedMatching +obo:GARD_12901 Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_12901 Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch OMIM:615905 semapv:UnspecifiedMatching +obo:GARD_12903 Optic atrophy-intellectual disability syndrome skos:exactMatch Orphanet:401777 semapv:UnspecifiedMatching +obo:GARD_12903 Optic atrophy-intellectual disability syndrome skos:narrowMatch OMIM:615722 semapv:UnspecifiedMatching +obo:GARD_12913 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome skos:exactMatch Orphanet:500533 semapv:UnspecifiedMatching +obo:GARD_12913 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome skos:narrowMatch OMIM:611087 semapv:UnspecifiedMatching +obo:GARD_12915 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 semapv:UnspecifiedMatching +obo:GARD_12915 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:narrowMatch OMIM:300636 semapv:UnspecifiedMatching +obo:GARD_12916 Rh deficiency syndrome skos:exactMatch Orphanet:71275 semapv:UnspecifiedMatching +obo:GARD_12916 Rh deficiency syndrome skos:narrowMatch OMIM:268150 semapv:UnspecifiedMatching +obo:GARD_12916 Rh deficiency syndrome skos:narrowMatch OMIM:617970 semapv:UnspecifiedMatching +obo:GARD_12919 Malignant migrating focal seizures of infancy skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +obo:GARD_12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:613722 semapv:UnspecifiedMatching +obo:GARD_12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:614959 semapv:UnspecifiedMatching +obo:GARD_12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:615338 semapv:UnspecifiedMatching +obo:GARD_12919 Malignant migrating focal seizures of infancy skos:narrowMatch OMIM:616645 semapv:UnspecifiedMatching +obo:GARD_1292 Familial calcium pyrophosphate deposition skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching +obo:GARD_1292 Familial calcium pyrophosphate deposition skos:narrowMatch OMIM:118600 semapv:UnspecifiedMatching +obo:GARD_1292 Familial calcium pyrophosphate deposition skos:narrowMatch OMIM:600668 semapv:UnspecifiedMatching +obo:GARD_12921 Late-onset junctional epidermolysis bullosa skos:exactMatch Orphanet:79406 semapv:UnspecifiedMatching +obo:GARD_12922 Intermediate generalized junctional epidermolysis bullosa skos:exactMatch Orphanet:79402 semapv:UnspecifiedMatching +obo:GARD_12922 Intermediate generalized junctional epidermolysis bullosa skos:narrowMatch OMIM:226650 semapv:UnspecifiedMatching +obo:GARD_12923 Localized junctional epidermolysis bullosa skos:exactMatch Orphanet:251393 semapv:UnspecifiedMatching +obo:GARD_12923 Localized junctional epidermolysis bullosa skos:narrowMatch OMIM:226650 semapv:UnspecifiedMatching +obo:GARD_12924 Preeclampsia skos:exactMatch Orphanet:275555 semapv:UnspecifiedMatching +obo:GARD_12924 Preeclampsia skos:narrowMatch OMIM:189800 semapv:UnspecifiedMatching +obo:GARD_12924 Preeclampsia skos:narrowMatch OMIM:609402 semapv:UnspecifiedMatching +obo:GARD_12924 Preeclampsia skos:narrowMatch OMIM:609403 semapv:UnspecifiedMatching +obo:GARD_12924 Preeclampsia skos:narrowMatch OMIM:609404 semapv:UnspecifiedMatching +obo:GARD_12924 Preeclampsia skos:narrowMatch OMIM:614595 semapv:UnspecifiedMatching +obo:GARD_12925 Familial multiple lipomatosis skos:exactMatch Orphanet:199276 semapv:UnspecifiedMatching +obo:GARD_12925 Familial multiple lipomatosis skos:narrowMatch OMIM:151900 semapv:UnspecifiedMatching +obo:GARD_12927 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma skos:exactMatch Orphanet:90059 semapv:UnspecifiedMatching +obo:GARD_12928 Astrocytoma skos:exactMatch Orphanet:94 semapv:UnspecifiedMatching +obo:GARD_12928 Astrocytoma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +obo:GARD_12931 ADNP syndrome skos:exactMatch Orphanet:404448 semapv:UnspecifiedMatching +obo:GARD_12931 ADNP syndrome skos:narrowMatch OMIM:615873 semapv:UnspecifiedMatching +obo:GARD_12943 X-linked hypophosphatemia skos:exactMatch Orphanet:89936 semapv:UnspecifiedMatching +obo:GARD_12943 X-linked hypophosphatemia skos:narrowMatch OMIM:307800 semapv:UnspecifiedMatching +obo:GARD_12949 Developmental and epileptic encephalopathy 5 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_12949 Developmental and epileptic encephalopathy 5 skos:exactMatch OMIM:613477 semapv:UnspecifiedMatching +obo:GARD_12958 C1q deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_12958 C1q deficiency skos:exactMatch OMIM:613652 semapv:UnspecifiedMatching +obo:GARD_12959 Primary orthostatic hypotension skos:exactMatch Orphanet:182058 semapv:UnspecifiedMatching +obo:GARD_1296 Brachytelephalangic chondrodysplasia punctata skos:exactMatch Orphanet:79345 semapv:UnspecifiedMatching +obo:GARD_1296 Brachytelephalangic chondrodysplasia punctata skos:narrowMatch OMIM:302950 semapv:UnspecifiedMatching +obo:GARD_1296 Brachytelephalangic chondrodysplasia punctata skos:narrowMatch OMIM:602497 semapv:UnspecifiedMatching +obo:GARD_12963 MEGDEL syndrome skos:exactMatch Orphanet:352328 semapv:UnspecifiedMatching +obo:GARD_12963 MEGDEL syndrome skos:narrowMatch OMIM:614739 semapv:UnspecifiedMatching +obo:GARD_12964 Dilated cardiomyopathy with ataxia skos:exactMatch Orphanet:66634 semapv:UnspecifiedMatching +obo:GARD_12964 Dilated cardiomyopathy with ataxia skos:narrowMatch OMIM:610198 semapv:UnspecifiedMatching +obo:GARD_12966 3-methylglutaconic aciduria skos:exactMatch Orphanet:289902 semapv:UnspecifiedMatching +obo:GARD_12976 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch Orphanet:319558 semapv:UnspecifiedMatching +obo:GARD_12976 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:narrowMatch OMIM:614890 semapv:UnspecifiedMatching +obo:GARD_12977 Mendelian susceptibility to mycobacterial diseases skos:exactMatch Orphanet:748 semapv:UnspecifiedMatching +obo:GARD_12978 Proximal myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching +obo:GARD_12978 Proximal myopathy with extrapyramidal signs skos:narrowMatch OMIM:615673 semapv:UnspecifiedMatching +obo:GARD_12980 Monoclonal mast cell activation syndrome skos:exactMatch Orphanet:529468 semapv:UnspecifiedMatching +obo:GARD_12983 Hereditary folate malabsorption skos:exactMatch Orphanet:90045 semapv:UnspecifiedMatching +obo:GARD_12983 Hereditary folate malabsorption skos:narrowMatch OMIM:229050 semapv:UnspecifiedMatching +obo:GARD_12986 Acyl-CoA dehydrogenase 9 deficiency skos:exactMatch Orphanet:99901 semapv:UnspecifiedMatching +obo:GARD_12986 Acyl-CoA dehydrogenase 9 deficiency skos:narrowMatch OMIM:611126 semapv:UnspecifiedMatching +obo:GARD_12987 Hereditary sensory and autonomic neuropathy type 6 skos:exactMatch Orphanet:314381 semapv:UnspecifiedMatching +obo:GARD_12987 Hereditary sensory and autonomic neuropathy type 6 skos:narrowMatch OMIM:614653 semapv:UnspecifiedMatching +obo:GARD_12991 Aquagenic palmoplantar keratoderma skos:exactMatch Orphanet:498359 semapv:UnspecifiedMatching +obo:GARD_13 Aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch Orphanet:1065 semapv:UnspecifiedMatching +obo:GARD_13 Aniridia-cerebellar ataxia-intellectual disability syndrome skos:narrowMatch OMIM:206700 semapv:UnspecifiedMatching +obo:GARD_1300 Acromesomelic dysplasia, Grebe type skos:exactMatch Orphanet:2098 semapv:UnspecifiedMatching +obo:GARD_1300 Acromesomelic dysplasia, Grebe type skos:narrowMatch OMIM:200700 semapv:UnspecifiedMatching +obo:GARD_13003 Lupus erythematosus tumidus skos:exactMatch Orphanet:90283 semapv:UnspecifiedMatching +obo:GARD_13004 Hepatic veno-occlusive disease skos:exactMatch Orphanet:890 semapv:UnspecifiedMatching +obo:GARD_13007 Hemoglobin M disease skos:exactMatch Orphanet:330041 semapv:UnspecifiedMatching +obo:GARD_13007 Hemoglobin M disease skos:narrowMatch OMIM:617971 semapv:UnspecifiedMatching +obo:GARD_13007 Hemoglobin M disease skos:narrowMatch OMIM:617973 semapv:UnspecifiedMatching +obo:GARD_1301 Ellis Van Creveld syndrome skos:exactMatch Orphanet:289 semapv:UnspecifiedMatching +obo:GARD_1301 Ellis Van Creveld syndrome skos:narrowMatch OMIM:225500 semapv:UnspecifiedMatching +obo:GARD_1301 Ellis Van Creveld syndrome skos:narrowMatch OMIM:617088 semapv:UnspecifiedMatching +obo:GARD_1301 Ellis Van Creveld syndrome skos:narrowMatch OMIM:618123 semapv:UnspecifiedMatching +obo:GARD_13011 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch Orphanet:156152 semapv:UnspecifiedMatching +obo:GARD_13015 Obesity due to congenital leptin deficiency skos:exactMatch Orphanet:66628 semapv:UnspecifiedMatching +obo:GARD_13015 Obesity due to congenital leptin deficiency skos:narrowMatch OMIM:614962 semapv:UnspecifiedMatching +obo:GARD_13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:exactMatch Orphanet:238569 semapv:UnspecifiedMatching +obo:GARD_13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:narrowMatch OMIM:612567 semapv:UnspecifiedMatching +obo:GARD_13016 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:narrowMatch OMIM:613148 semapv:UnspecifiedMatching +obo:GARD_13019 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_13019 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch OMIM:616277 semapv:UnspecifiedMatching +obo:GARD_13020 Microcystic lymphatic malformation skos:exactMatch Orphanet:79490 semapv:UnspecifiedMatching +obo:GARD_13025 Woolly hair nevus skos:exactMatch Orphanet:79414 semapv:UnspecifiedMatching +obo:GARD_13025 Woolly hair nevus skos:narrowMatch OMIM:162900 semapv:UnspecifiedMatching +obo:GARD_1303 Chordoma skos:exactMatch Orphanet:178 semapv:UnspecifiedMatching +obo:GARD_1303 Chordoma skos:narrowMatch OMIM:215400 semapv:UnspecifiedMatching +obo:GARD_13030 Deafness-lymphedema-leukemia syndrome skos:exactMatch Orphanet:3226 semapv:UnspecifiedMatching +obo:GARD_13030 Deafness-lymphedema-leukemia syndrome skos:narrowMatch OMIM:614038 semapv:UnspecifiedMatching +obo:GARD_13032 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation skos:exactMatch Orphanet:300570 semapv:UnspecifiedMatching +obo:GARD_13032 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation skos:narrowMatch OMIM:614039 semapv:UnspecifiedMatching +obo:GARD_13034 Neuroendocrine tumor of pancreas skos:exactMatch Orphanet:97253 semapv:UnspecifiedMatching +obo:GARD_13040 Necrobiosis lipoidica skos:exactMatch Orphanet:542592 semapv:UnspecifiedMatching +obo:GARD_13041 Thrombophilia due to protein c deficiency, autosomal recessive skos:broadMatch Orphanet:745 semapv:UnspecifiedMatching +obo:GARD_13041 Thrombophilia due to protein c deficiency, autosomal recessive skos:exactMatch OMIM:612304 semapv:UnspecifiedMatching +obo:GARD_13043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome skos:exactMatch Orphanet:329224 semapv:UnspecifiedMatching +obo:GARD_13043 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome skos:narrowMatch OMIM:615009 semapv:UnspecifiedMatching +obo:GARD_13046 Giant cell tumor of bone skos:exactMatch Orphanet:363976 semapv:UnspecifiedMatching +obo:GARD_13047 Germ cell tumor of testis skos:exactMatch Orphanet:363504 semapv:UnspecifiedMatching +obo:GARD_13047 Germ cell tumor of testis skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +obo:GARD_1305 Benign hereditary chorea skos:exactMatch Orphanet:1429 semapv:UnspecifiedMatching +obo:GARD_1305 Benign hereditary chorea skos:narrowMatch OMIM:118700 semapv:UnspecifiedMatching +obo:GARD_1305 Benign hereditary chorea skos:narrowMatch OMIM:215450 semapv:UnspecifiedMatching +obo:GARD_13056 Congenital analbuminemia skos:exactMatch Orphanet:86816 semapv:UnspecifiedMatching +obo:GARD_13056 Congenital analbuminemia skos:narrowMatch OMIM:616000 semapv:UnspecifiedMatching +obo:GARD_13058 Autosomal dominant multiple pterygium syndrome skos:exactMatch Orphanet:65743 semapv:UnspecifiedMatching +obo:GARD_13058 Autosomal dominant multiple pterygium syndrome skos:narrowMatch OMIM:178110 semapv:UnspecifiedMatching +obo:GARD_13059 Distal arthrogryposis type 5D skos:exactMatch Orphanet:329457 semapv:UnspecifiedMatching +obo:GARD_13059 Distal arthrogryposis type 5D skos:narrowMatch OMIM:615065 semapv:UnspecifiedMatching +obo:GARD_13060 KCNQ2-related epileptic encephalopathy skos:exactMatch Orphanet:439218 semapv:UnspecifiedMatching +obo:GARD_13060 KCNQ2-related epileptic encephalopathy skos:narrowMatch OMIM:613720 semapv:UnspecifiedMatching +obo:GARD_13063 Bockenheimer syndrome skos:exactMatch Orphanet:217008 semapv:UnspecifiedMatching +obo:GARD_13070 Lewis-Sumner syndrome skos:exactMatch Orphanet:48162 semapv:UnspecifiedMatching +obo:GARD_13072 Primary hypomagnesemia with secondary hypocalcemia skos:exactMatch Orphanet:30924 semapv:UnspecifiedMatching +obo:GARD_13072 Primary hypomagnesemia with secondary hypocalcemia skos:narrowMatch OMIM:602014 semapv:UnspecifiedMatching +obo:GARD_13073 Nevus comedonicus syndrome skos:exactMatch Orphanet:64754 semapv:UnspecifiedMatching +obo:GARD_13073 Nevus comedonicus syndrome skos:narrowMatch OMIM:617025 semapv:UnspecifiedMatching +obo:GARD_13075 Diffuse intrinsic pontine glioma skos:exactMatch Orphanet:497188 semapv:UnspecifiedMatching +obo:GARD_13085 Developmental and epileptic encephalopathy 13 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_13085 Developmental and epileptic encephalopathy 13 skos:exactMatch OMIM:614558 semapv:UnspecifiedMatching +obo:GARD_13101 Corticosteroid-binding globulin deficiency skos:exactMatch Orphanet:199247 semapv:UnspecifiedMatching +obo:GARD_13101 Corticosteroid-binding globulin deficiency skos:narrowMatch OMIM:611489 semapv:UnspecifiedMatching +obo:GARD_13105 Dent disease skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching +obo:GARD_13105 Dent disease skos:narrowMatch OMIM:300009 semapv:UnspecifiedMatching +obo:GARD_13105 Dent disease skos:narrowMatch OMIM:300554 semapv:UnspecifiedMatching +obo:GARD_13105 Dent disease skos:narrowMatch OMIM:300555 semapv:UnspecifiedMatching +obo:GARD_13105 Dent disease skos:narrowMatch OMIM:308990 semapv:UnspecifiedMatching +obo:GARD_13105 Dent disease skos:narrowMatch OMIM:310468 semapv:UnspecifiedMatching +obo:GARD_13108 MIRAGE syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching +obo:GARD_13108 MIRAGE syndrome skos:narrowMatch OMIM:617053 semapv:UnspecifiedMatching +obo:GARD_13110 Progressive encephalomyelitis with rigidity and myoclonus skos:exactMatch Orphanet:438266 semapv:UnspecifiedMatching +obo:GARD_13110 Progressive encephalomyelitis with rigidity and myoclonus skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +obo:GARD_13111 Ataxia-oculomotor apraxia type 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching +obo:GARD_13111 Ataxia-oculomotor apraxia type 4 skos:narrowMatch OMIM:616267 semapv:UnspecifiedMatching +obo:GARD_13112 Ataxia-oculomotor apraxia 3 skos:broadMatch Orphanet:64753 semapv:UnspecifiedMatching +obo:GARD_13112 Ataxia-oculomotor apraxia 3 skos:exactMatch OMIM:615217 semapv:UnspecifiedMatching +obo:GARD_13113 Infantile liver failure syndrome 2 skos:broadMatch Orphanet:464724 semapv:UnspecifiedMatching +obo:GARD_13113 Infantile liver failure syndrome 2 skos:exactMatch OMIM:616483 semapv:UnspecifiedMatching +obo:GARD_13114 Acute infantile liver failure-multisystemic involvement syndrome skos:exactMatch Orphanet:370088 semapv:UnspecifiedMatching +obo:GARD_13114 Acute infantile liver failure-multisystemic involvement syndrome skos:narrowMatch OMIM:615438 semapv:UnspecifiedMatching +obo:GARD_13124 Chronic thromboembolic pulmonary hypertension skos:exactMatch Orphanet:70591 semapv:UnspecifiedMatching +obo:GARD_13124 Chronic thromboembolic pulmonary hypertension skos:narrowMatch OMIM:612862 semapv:UnspecifiedMatching +obo:GARD_13125 CIDEC-related familial partial lipodystrophy skos:exactMatch Orphanet:435651 semapv:UnspecifiedMatching +obo:GARD_13125 CIDEC-related familial partial lipodystrophy skos:narrowMatch OMIM:615238 semapv:UnspecifiedMatching +obo:GARD_13126 LIPE-related familial partial lipodystrophy skos:exactMatch Orphanet:435660 semapv:UnspecifiedMatching +obo:GARD_13126 LIPE-related familial partial lipodystrophy skos:narrowMatch OMIM:615980 semapv:UnspecifiedMatching +obo:GARD_1313 Infantile choroidocerebral calcification syndrome skos:exactMatch Orphanet:1313 semapv:UnspecifiedMatching +obo:GARD_1313 Infantile choroidocerebral calcification syndrome skos:narrowMatch OMIM:215480 semapv:UnspecifiedMatching +obo:GARD_13136 Intellectual developmental disorder, autosomal dominant 30 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_13136 Intellectual developmental disorder, autosomal dominant 30 skos:broadMatch Orphanet:436151 semapv:UnspecifiedMatching +obo:GARD_13136 Intellectual developmental disorder, autosomal dominant 30 skos:exactMatch OMIM:616083 semapv:UnspecifiedMatching +obo:GARD_13137 Methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch Orphanet:369962 semapv:UnspecifiedMatching +obo:GARD_13137 Methylmalonic acidemia with homocystinuria, type cblX skos:narrowMatch OMIM:309541 semapv:UnspecifiedMatching +obo:GARD_13142 Acute flaccid myelitis skos:exactMatch Orphanet:623801 semapv:UnspecifiedMatching +obo:GARD_13154 Tibial muscular dystrophy skos:exactMatch Orphanet:609 semapv:UnspecifiedMatching +obo:GARD_13154 Tibial muscular dystrophy skos:narrowMatch OMIM:600334 semapv:UnspecifiedMatching +obo:GARD_13155 Early-onset lamellar cataract skos:exactMatch Orphanet:441452 semapv:UnspecifiedMatching +obo:GARD_13155 Early-onset lamellar cataract skos:narrowMatch OMIM:116100 semapv:UnspecifiedMatching +obo:GARD_13155 Early-onset lamellar cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +obo:GARD_13155 Early-onset lamellar cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +obo:GARD_13156 Oligodendroglial tumor skos:exactMatch Orphanet:46484 semapv:UnspecifiedMatching +obo:GARD_13157 Hereditary papillary renal cell carcinoma skos:exactMatch Orphanet:47044 semapv:UnspecifiedMatching +obo:GARD_13157 Hereditary papillary renal cell carcinoma skos:narrowMatch OMIM:605074 semapv:UnspecifiedMatching +obo:GARD_13158 Staphylococcal scalded skin syndrome skos:exactMatch Orphanet:36236 semapv:UnspecifiedMatching +obo:GARD_13160 Rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:177 semapv:UnspecifiedMatching +obo:GARD_13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:215100 semapv:UnspecifiedMatching +obo:GARD_13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:222765 semapv:UnspecifiedMatching +obo:GARD_13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:600121 semapv:UnspecifiedMatching +obo:GARD_13160 Rhizomelic chondrodysplasia punctata skos:narrowMatch OMIM:616716 semapv:UnspecifiedMatching +obo:GARD_13163 Methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 semapv:UnspecifiedMatching +obo:GARD_13167 Familial isolated trichomegaly skos:exactMatch Orphanet:411788 semapv:UnspecifiedMatching +obo:GARD_13167 Familial isolated trichomegaly skos:narrowMatch OMIM:190330 semapv:UnspecifiedMatching +obo:GARD_13168 Corticobasal syndrome skos:exactMatch Orphanet:454887 semapv:UnspecifiedMatching +obo:GARD_13169 CHST3-related skeletal dysplasia skos:exactMatch Orphanet:263463 semapv:UnspecifiedMatching +obo:GARD_13169 CHST3-related skeletal dysplasia skos:narrowMatch OMIM:143095 semapv:UnspecifiedMatching +obo:GARD_13171 Autosomal recessive brachyolmia skos:exactMatch Orphanet:448242 semapv:UnspecifiedMatching +obo:GARD_13171 Autosomal recessive brachyolmia skos:narrowMatch OMIM:271530 semapv:UnspecifiedMatching +obo:GARD_13171 Autosomal recessive brachyolmia skos:narrowMatch OMIM:271630 semapv:UnspecifiedMatching +obo:GARD_13173 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch Orphanet:639 semapv:UnspecifiedMatching +obo:GARD_13174 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +obo:GARD_13174 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 skos:exactMatch OMIM:157640 semapv:UnspecifiedMatching +obo:GARD_13175 Renal medullary carcinoma skos:exactMatch Orphanet:319319 semapv:UnspecifiedMatching +obo:GARD_13177 S-adenosylhomocysteine hydrolase deficiency skos:exactMatch Orphanet:88618 semapv:UnspecifiedMatching +obo:GARD_13177 S-adenosylhomocysteine hydrolase deficiency skos:narrowMatch OMIM:613752 semapv:UnspecifiedMatching +obo:GARD_13179 Intellectual developmental disorder, autosomal dominant 43 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_13179 Intellectual developmental disorder, autosomal dominant 43 skos:exactMatch OMIM:616977 semapv:UnspecifiedMatching +obo:GARD_13186 Xanthoma disseminatum skos:exactMatch Orphanet:158003 semapv:UnspecifiedMatching +obo:GARD_1319 Chromomycosis skos:exactMatch Orphanet:182 semapv:UnspecifiedMatching +obo:GARD_13197 Developmental and epileptic encephalopathy 94 skos:broadMatch Orphanet:1942 semapv:UnspecifiedMatching +obo:GARD_13197 Developmental and epileptic encephalopathy 94 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +obo:GARD_13197 Developmental and epileptic encephalopathy 94 skos:exactMatch OMIM:615369 semapv:UnspecifiedMatching +obo:GARD_13198 Infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch Orphanet:500062 semapv:UnspecifiedMatching +obo:GARD_13198 Infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:narrowMatch OMIM:617099 semapv:UnspecifiedMatching +obo:GARD_13199 Cystic leukoencephalopathy without megalencephaly skos:exactMatch Orphanet:85136 semapv:UnspecifiedMatching +obo:GARD_13199 Cystic leukoencephalopathy without megalencephaly skos:narrowMatch OMIM:612951 semapv:UnspecifiedMatching +obo:GARD_132 Primary cutaneous amyloidosis skos:exactMatch Orphanet:137807 semapv:UnspecifiedMatching +obo:GARD_1320 Ring chromosome 1 syndrome skos:exactMatch Orphanet:1437 semapv:UnspecifiedMatching +obo:GARD_13200 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy skos:exactMatch Orphanet:255235 semapv:UnspecifiedMatching +obo:GARD_13200 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy skos:narrowMatch OMIM:612075 semapv:UnspecifiedMatching +obo:GARD_13201 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch Orphanet:401948 semapv:UnspecifiedMatching +obo:GARD_13201 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:narrowMatch OMIM:615751 semapv:UnspecifiedMatching +obo:GARD_13202 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 semapv:UnspecifiedMatching +obo:GARD_13202 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:narrowMatch OMIM:250620 semapv:UnspecifiedMatching +obo:GARD_13206 2q32q33 microdeletion syndrome skos:exactMatch Orphanet:251019 semapv:UnspecifiedMatching +obo:GARD_13206 2q32q33 microdeletion syndrome skos:narrowMatch OMIM:612313 semapv:UnspecifiedMatching +obo:GARD_13209 Pituitary stalk interruption syndrome skos:exactMatch Orphanet:95496 semapv:UnspecifiedMatching +obo:GARD_13215 Renal cell carcinoma skos:exactMatch Orphanet:217071 semapv:UnspecifiedMatching +obo:GARD_13218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome skos:exactMatch Orphanet:221043 semapv:UnspecifiedMatching +obo:GARD_13218 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome skos:narrowMatch OMIM:615704 semapv:UnspecifiedMatching +obo:GARD_13219 BAP1-related tumor predisposition syndrome skos:exactMatch Orphanet:289539 semapv:UnspecifiedMatching +obo:GARD_13219 BAP1-related tumor predisposition syndrome skos:narrowMatch OMIM:614327 semapv:UnspecifiedMatching +obo:GARD_1322 Ring chromosome 10 syndrome skos:exactMatch Orphanet:1438 semapv:UnspecifiedMatching +obo:GARD_13221 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome skos:exactMatch Orphanet:397933 semapv:UnspecifiedMatching +obo:GARD_13222 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:363454 semapv:UnspecifiedMatching +obo:GARD_13222 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:615290 semapv:UnspecifiedMatching +obo:GARD_1323 Distal monosomy 10p skos:exactMatch Orphanet:1580 semapv:UnspecifiedMatching +obo:GARD_1323 Distal monosomy 10p skos:narrowMatch OMIM:601362 semapv:UnspecifiedMatching +obo:GARD_13232 Familial acute necrotizing encephalopathy skos:exactMatch Orphanet:88619 semapv:UnspecifiedMatching +obo:GARD_13232 Familial acute necrotizing encephalopathy skos:narrowMatch OMIM:608033 semapv:UnspecifiedMatching +obo:GARD_13235 Microphthalmia, syndromic 12 skos:broadMatch Orphanet:2470 semapv:UnspecifiedMatching +obo:GARD_13235 Microphthalmia, syndromic 12 skos:exactMatch OMIM:615524 semapv:UnspecifiedMatching +obo:GARD_13237 Marginal zone lymphoma skos:exactMatch Orphanet:300912 semapv:UnspecifiedMatching +obo:GARD_13244 X-linked intellectual disability, Cabezas type skos:exactMatch Orphanet:85293 semapv:UnspecifiedMatching +obo:GARD_13244 X-linked intellectual disability, Cabezas type skos:narrowMatch OMIM:300354 semapv:UnspecifiedMatching +obo:GARD_1325 Ring chromosome 12 syndrome skos:exactMatch Orphanet:1439 semapv:UnspecifiedMatching +obo:GARD_13256 IgG4-related pachymeningitis skos:exactMatch Orphanet:449427 semapv:UnspecifiedMatching +obo:GARD_13259 Bainbridge-Ropers syndrome skos:exactMatch Orphanet:352577 semapv:UnspecifiedMatching +obo:GARD_13259 Bainbridge-Ropers syndrome skos:narrowMatch OMIM:615485 semapv:UnspecifiedMatching +obo:GARD_13264 Infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 semapv:UnspecifiedMatching +obo:GARD_13264 Infantile cerebellar-retinal degeneration skos:narrowMatch OMIM:614559 semapv:UnspecifiedMatching +obo:GARD_1327 Mosaic trisomy 14 skos:exactMatch Orphanet:1703 semapv:UnspecifiedMatching +obo:GARD_13273 Phosphoserine aminotransferase deficiency, infantile/juvenile form skos:exactMatch Orphanet:284417 semapv:UnspecifiedMatching +obo:GARD_13273 Phosphoserine aminotransferase deficiency, infantile/juvenile form skos:narrowMatch OMIM:610992 semapv:UnspecifiedMatching +obo:GARD_1328 Ring chromosome 15 syndrome skos:exactMatch Orphanet:96177 semapv:UnspecifiedMatching +obo:GARD_13293 Bleeding diathesis due to glycoprotein VI deficiency skos:exactMatch Orphanet:98885 semapv:UnspecifiedMatching +obo:GARD_13293 Bleeding diathesis due to glycoprotein VI deficiency skos:narrowMatch OMIM:614201 semapv:UnspecifiedMatching +obo:GARD_13295 Familial focal epilepsy with variable foci skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching +obo:GARD_13295 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:604364 semapv:UnspecifiedMatching +obo:GARD_13295 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:617116 semapv:UnspecifiedMatching +obo:GARD_13295 Familial focal epilepsy with variable foci skos:narrowMatch OMIM:617118 semapv:UnspecifiedMatching +obo:GARD_13296 17q12 microduplication syndrome skos:exactMatch Orphanet:261272 semapv:UnspecifiedMatching +obo:GARD_13296 17q12 microduplication syndrome skos:narrowMatch OMIM:614526 semapv:UnspecifiedMatching +obo:GARD_13297 17q12 microdeletion syndrome skos:exactMatch Orphanet:261265 semapv:UnspecifiedMatching +obo:GARD_13297 17q12 microdeletion syndrome skos:narrowMatch OMIM:614527 semapv:UnspecifiedMatching +obo:GARD_13298 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies skos:exactMatch Orphanet:369897 semapv:UnspecifiedMatching +obo:GARD_13298 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies skos:narrowMatch OMIM:615471 semapv:UnspecifiedMatching +obo:GARD_13316 MAGEL2-related Prader-Willi-like syndrome skos:exactMatch Orphanet:398069 semapv:UnspecifiedMatching +obo:GARD_13316 MAGEL2-related Prader-Willi-like syndrome skos:narrowMatch OMIM:615547 semapv:UnspecifiedMatching +obo:GARD_13318 Developmental and epileptic encephalopathy 12 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +obo:GARD_13318 Developmental and epileptic encephalopathy 12 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_13318 Developmental and epileptic encephalopathy 12 skos:exactMatch OMIM:613722 semapv:UnspecifiedMatching +obo:GARD_13319 Fatty acyl-CoA reductase 1 deficiency skos:exactMatch Orphanet:438178 semapv:UnspecifiedMatching +obo:GARD_13319 Fatty acyl-CoA reductase 1 deficiency skos:narrowMatch OMIM:616154 semapv:UnspecifiedMatching +obo:GARD_13320 Rhizomelic chondrodysplasia punctata type 5 skos:exactMatch Orphanet:468717 semapv:UnspecifiedMatching +obo:GARD_13320 Rhizomelic chondrodysplasia punctata type 5 skos:narrowMatch OMIM:616716 semapv:UnspecifiedMatching +obo:GARD_1333 Ring chromosome 19 syndrome skos:exactMatch Orphanet:1443 semapv:UnspecifiedMatching +obo:GARD_13331 Familial reactive perforating collagenosis skos:exactMatch Orphanet:79147 semapv:UnspecifiedMatching +obo:GARD_13331 Familial reactive perforating collagenosis skos:narrowMatch OMIM:216700 semapv:UnspecifiedMatching +obo:GARD_13337 Idiopathic interstitial pneumonia skos:exactMatch Orphanet:98300 semapv:UnspecifiedMatching +obo:GARD_13339 BENTA disease skos:exactMatch Orphanet:464336 semapv:UnspecifiedMatching +obo:GARD_13339 BENTA disease skos:narrowMatch OMIM:616452 semapv:UnspecifiedMatching +obo:GARD_1334 Ring chromosome 20 syndrome skos:exactMatch Orphanet:1444 semapv:UnspecifiedMatching +obo:GARD_13349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch Orphanet:420584 semapv:UnspecifiedMatching +obo:GARD_13349 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:narrowMatch OMIM:615849 semapv:UnspecifiedMatching +obo:GARD_13354 Morning glory disc anomaly skos:exactMatch Orphanet:35737 semapv:UnspecifiedMatching +obo:GARD_13354 Morning glory disc anomaly skos:narrowMatch OMIM:120430 semapv:UnspecifiedMatching +obo:GARD_1336 Ring chromosome 22 syndrome skos:exactMatch Orphanet:1446 semapv:UnspecifiedMatching +obo:GARD_13371 MAGIC syndrome skos:exactMatch Orphanet:324972 semapv:UnspecifiedMatching +obo:GARD_13376 Epiphyseal dysplasia, multiple, 6 skos:broadMatch Orphanet:166002 semapv:UnspecifiedMatching +obo:GARD_13376 Epiphyseal dysplasia, multiple, 6 skos:exactMatch OMIM:614135 semapv:UnspecifiedMatching +obo:GARD_13378 Developmental and epileptic encephalopathy 17 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_13378 Developmental and epileptic encephalopathy 17 skos:exactMatch OMIM:615473 semapv:UnspecifiedMatching +obo:GARD_13379 Intellectual developmental disorder, autosomal dominant 29 skos:broadMatch Orphanet:436151 semapv:UnspecifiedMatching +obo:GARD_13379 Intellectual developmental disorder, autosomal dominant 29 skos:exactMatch OMIM:616078 semapv:UnspecifiedMatching +obo:GARD_13388 Congenital generalized lipodystrophy skos:exactMatch Orphanet:528 semapv:UnspecifiedMatching +obo:GARD_13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:269700 semapv:UnspecifiedMatching +obo:GARD_13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:606721 semapv:UnspecifiedMatching +obo:GARD_13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:608594 semapv:UnspecifiedMatching +obo:GARD_13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:612526 semapv:UnspecifiedMatching +obo:GARD_13388 Congenital generalized lipodystrophy skos:narrowMatch OMIM:613327 semapv:UnspecifiedMatching +obo:GARD_13389 Lipodystrophy, congenital generalized, type 3 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +obo:GARD_13389 Lipodystrophy, congenital generalized, type 3 skos:exactMatch OMIM:612526 semapv:UnspecifiedMatching +obo:GARD_1339 Ring chromosome 4 syndrome skos:exactMatch Orphanet:1447 semapv:UnspecifiedMatching +obo:GARD_13390 12q14 microdeletion syndrome skos:exactMatch Orphanet:94063 semapv:UnspecifiedMatching +obo:GARD_13391 2p15p16.1 microdeletion syndrome skos:exactMatch Orphanet:261349 semapv:UnspecifiedMatching +obo:GARD_13391 2p15p16.1 microdeletion syndrome skos:narrowMatch OMIM:612513 semapv:UnspecifiedMatching +obo:GARD_134 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:exactMatch Orphanet:93346 semapv:UnspecifiedMatching +obo:GARD_134 Spondyloepimetaphyseal dysplasia congenita, Strudwick type skos:narrowMatch OMIM:184250 semapv:UnspecifiedMatching +obo:GARD_13409 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome skos:exactMatch Orphanet:412069 semapv:UnspecifiedMatching +obo:GARD_13409 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome skos:narrowMatch OMIM:615829 semapv:UnspecifiedMatching +obo:GARD_13418 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation skos:exactMatch Orphanet:453504 semapv:UnspecifiedMatching +obo:GARD_13418 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation skos:narrowMatch OMIM:616580 semapv:UnspecifiedMatching +obo:GARD_13423 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch Orphanet:480864 semapv:UnspecifiedMatching +obo:GARD_13423 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:narrowMatch OMIM:616878 semapv:UnspecifiedMatching +obo:GARD_13425 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch Orphanet:447997 semapv:UnspecifiedMatching +obo:GARD_13425 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:narrowMatch OMIM:616657 semapv:UnspecifiedMatching +obo:GARD_13431 Temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching +obo:GARD_13431 Temple syndrome skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +obo:GARD_13446 Plasmacytoma skos:exactMatch Orphanet:86855 semapv:UnspecifiedMatching +obo:GARD_13447 PENS syndrome skos:exactMatch Orphanet:313936 semapv:UnspecifiedMatching +obo:GARD_1345 Ring chromosome 7 syndrome skos:exactMatch Orphanet:1449 semapv:UnspecifiedMatching +obo:GARD_13451 Kaposiform lymphangiomatosis skos:exactMatch Orphanet:464329 semapv:UnspecifiedMatching +obo:GARD_13461 REN-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:217330 semapv:UnspecifiedMatching +obo:GARD_13461 REN-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:613092 semapv:UnspecifiedMatching +obo:GARD_1347 Ring chromosome 8 syndrome skos:exactMatch Orphanet:1450 semapv:UnspecifiedMatching +obo:GARD_13472 FTH1-related iron overload skos:exactMatch Orphanet:247790 semapv:UnspecifiedMatching +obo:GARD_13472 FTH1-related iron overload skos:narrowMatch OMIM:615517 semapv:UnspecifiedMatching +obo:GARD_13474 Intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching +obo:GARD_13474 Intellectual disability-epilepsy-extrapyramidal syndrome skos:narrowMatch OMIM:617171 semapv:UnspecifiedMatching +obo:GARD_1348 Ring chromosome 9 syndrome skos:exactMatch Orphanet:96173 semapv:UnspecifiedMatching +obo:GARD_13488 MEPAN syndrome skos:exactMatch Orphanet:508093 semapv:UnspecifiedMatching +obo:GARD_13488 MEPAN syndrome skos:narrowMatch OMIM:617282 semapv:UnspecifiedMatching +obo:GARD_13489 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:500150 semapv:UnspecifiedMatching +obo:GARD_13489 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome skos:narrowMatch OMIM:617140 semapv:UnspecifiedMatching +obo:GARD_13519 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:209341 semapv:UnspecifiedMatching +obo:GARD_13519 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:158600 semapv:UnspecifiedMatching +obo:GARD_13524 Intellectual developmental disorder, autosomal dominant 56 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_13524 Intellectual developmental disorder, autosomal dominant 56 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_13524 Intellectual developmental disorder, autosomal dominant 56 skos:exactMatch OMIM:617854 semapv:UnspecifiedMatching +obo:GARD_13527 DYRK1A-related intellectual disability syndrome skos:exactMatch Orphanet:464306 semapv:UnspecifiedMatching +obo:GARD_13527 DYRK1A-related intellectual disability syndrome skos:narrowMatch OMIM:614104 semapv:UnspecifiedMatching +obo:GARD_13539 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_13539 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features skos:exactMatch OMIM:616579 semapv:UnspecifiedMatching +obo:GARD_1356 CINCA syndrome skos:exactMatch Orphanet:1451 semapv:UnspecifiedMatching +obo:GARD_1356 CINCA syndrome skos:narrowMatch OMIM:607115 semapv:UnspecifiedMatching +obo:GARD_13565 Combined immunodeficiency due to LRBA deficiency skos:exactMatch Orphanet:445018 semapv:UnspecifiedMatching +obo:GARD_13565 Combined immunodeficiency due to LRBA deficiency skos:narrowMatch OMIM:614700 semapv:UnspecifiedMatching +obo:GARD_13568 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation skos:exactMatch Orphanet:320385 semapv:UnspecifiedMatching +obo:GARD_13568 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation skos:narrowMatch OMIM:615031 semapv:UnspecifiedMatching +obo:GARD_13571 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch Orphanet:293955 semapv:UnspecifiedMatching +obo:GARD_13571 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:narrowMatch OMIM:614458 semapv:UnspecifiedMatching +obo:GARD_1358 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch Orphanet:3068 semapv:UnspecifiedMatching +obo:GARD_1358 Intellectual disability-myopathy-short stature-endocrine defect syndrome skos:narrowMatch OMIM:253320 semapv:UnspecifiedMatching +obo:GARD_13587 Combined immunodeficiency with granulomatosis skos:exactMatch Orphanet:157949 semapv:UnspecifiedMatching +obo:GARD_13587 Combined immunodeficiency with granulomatosis skos:narrowMatch OMIM:233650 semapv:UnspecifiedMatching +obo:GARD_13588 Pontiac fever skos:exactMatch Orphanet:99748 semapv:UnspecifiedMatching +obo:GARD_1359 Chylous ascites skos:exactMatch Orphanet:1160 semapv:UnspecifiedMatching +obo:GARD_1359 Chylous ascites skos:narrowMatch OMIM:208300 semapv:UnspecifiedMatching +obo:GARD_13591 Postural orthostatic tachycardia syndrome due to NET deficiency skos:exactMatch Orphanet:443236 semapv:UnspecifiedMatching +obo:GARD_13591 Postural orthostatic tachycardia syndrome due to NET deficiency skos:narrowMatch OMIM:604715 semapv:UnspecifiedMatching +obo:GARD_13592 Severe congenital neutropenia skos:exactMatch Orphanet:42738 semapv:UnspecifiedMatching +obo:GARD_13593 Rosette-forming glioneuronal tumor skos:exactMatch Orphanet:251975 semapv:UnspecifiedMatching +obo:GARD_13594 Brain dopamine-serotonin vesicular transport disease skos:exactMatch Orphanet:352649 semapv:UnspecifiedMatching +obo:GARD_13594 Brain dopamine-serotonin vesicular transport disease skos:narrowMatch OMIM:618049 semapv:UnspecifiedMatching +obo:GARD_1360 Ciliary discoordination due to random ciliary orientation skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_1360 Ciliary discoordination due to random ciliary orientation skos:exactMatch OMIM:215518 semapv:UnspecifiedMatching +obo:GARD_13606 Subcorneal pustular dermatosis skos:exactMatch Orphanet:48377 semapv:UnspecifiedMatching +obo:GARD_1361 Ciliary dyskinesia with transposition of ciliary microtubules skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_1361 Ciliary dyskinesia with transposition of ciliary microtubules skos:exactMatch OMIM:215520 semapv:UnspecifiedMatching +obo:GARD_13613 Pneumonia caused by Pseudomonas aeruginosa infection skos:exactMatch Orphanet:90066 semapv:UnspecifiedMatching +obo:GARD_13621 CAD-CDG skos:exactMatch Orphanet:448010 semapv:UnspecifiedMatching +obo:GARD_13621 CAD-CDG skos:narrowMatch OMIM:616457 semapv:UnspecifiedMatching +obo:GARD_13629 Drug reaction with eosinophilia and systemic symptoms skos:exactMatch Orphanet:139402 semapv:UnspecifiedMatching +obo:GARD_13636 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch Orphanet:457485 semapv:UnspecifiedMatching +obo:GARD_13636 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:narrowMatch OMIM:616638 semapv:UnspecifiedMatching +obo:GARD_13638 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch Orphanet:480880 semapv:UnspecifiedMatching +obo:GARD_13638 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:narrowMatch OMIM:300968 semapv:UnspecifiedMatching +obo:GARD_13639 Classic galactosemia skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching +obo:GARD_13639 Classic galactosemia skos:narrowMatch OMIM:230400 semapv:UnspecifiedMatching +obo:GARD_13641 Familial cerebral cavernous malformation skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching +obo:GARD_13641 Familial cerebral cavernous malformation skos:narrowMatch OMIM:116860 semapv:UnspecifiedMatching +obo:GARD_13641 Familial cerebral cavernous malformation skos:narrowMatch OMIM:603284 semapv:UnspecifiedMatching +obo:GARD_13641 Familial cerebral cavernous malformation skos:narrowMatch OMIM:603285 semapv:UnspecifiedMatching +obo:GARD_13643 Mitochondrial DNA depletion syndrome skos:exactMatch Orphanet:35698 semapv:UnspecifiedMatching +obo:GARD_13644 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency skos:exactMatch Orphanet:279934 semapv:UnspecifiedMatching +obo:GARD_13644 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency skos:narrowMatch OMIM:251880 semapv:UnspecifiedMatching +obo:GARD_13655 Orofaciodigital syndrome type 14 skos:exactMatch Orphanet:434179 semapv:UnspecifiedMatching +obo:GARD_13655 Orofaciodigital syndrome type 14 skos:narrowMatch OMIM:615948 semapv:UnspecifiedMatching +obo:GARD_13658 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch Orphanet:500180 semapv:UnspecifiedMatching +obo:GARD_13658 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:narrowMatch OMIM:617672 semapv:UnspecifiedMatching +obo:GARD_13661 Classic multiminicore myopathy skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching +obo:GARD_13661 Classic multiminicore myopathy skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +obo:GARD_13663 Familial sick sinus syndrome skos:exactMatch Orphanet:166282 semapv:UnspecifiedMatching +obo:GARD_13663 Familial sick sinus syndrome skos:narrowMatch OMIM:163800 semapv:UnspecifiedMatching +obo:GARD_13663 Familial sick sinus syndrome skos:narrowMatch OMIM:182190 semapv:UnspecifiedMatching +obo:GARD_13663 Familial sick sinus syndrome skos:narrowMatch OMIM:608567 semapv:UnspecifiedMatching +obo:GARD_13663 Familial sick sinus syndrome skos:narrowMatch OMIM:614090 semapv:UnspecifiedMatching +obo:GARD_13676 Developmental and epileptic encephalopathy 18 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_13676 Developmental and epileptic encephalopathy 18 skos:exactMatch OMIM:615476 semapv:UnspecifiedMatching +obo:GARD_13686 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_13686 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch OMIM:614254 semapv:UnspecifiedMatching +obo:GARD_1369 Tibial aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:3329 semapv:UnspecifiedMatching +obo:GARD_1369 Tibial aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:119100 semapv:UnspecifiedMatching +obo:GARD_1369 Tibial aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:610685 semapv:UnspecifiedMatching +obo:GARD_1369 Tibial aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:612576 semapv:UnspecifiedMatching +obo:GARD_13701 Primary cutaneous follicle center lymphoma skos:exactMatch Orphanet:178540 semapv:UnspecifiedMatching +obo:GARD_13708 Warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching +obo:GARD_13708 Warsaw breakage syndrome skos:narrowMatch OMIM:613398 semapv:UnspecifiedMatching +obo:GARD_13712 Combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch Orphanet:231154 semapv:UnspecifiedMatching +obo:GARD_13712 Combined immunodeficiency due to partial RAG1 deficiency skos:narrowMatch OMIM:609889 semapv:UnspecifiedMatching +obo:GARD_13731 T-cell prolymphocytic leukemia skos:exactMatch Orphanet:86871 semapv:UnspecifiedMatching +obo:GARD_13737 Spastic paraplegia 51, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +obo:GARD_13737 Spastic paraplegia 51, autosomal recessive skos:exactMatch OMIM:613744 semapv:UnspecifiedMatching +obo:GARD_13743 Multicentric osteolysis, nodulosis, and arthropathy skos:broadMatch Orphanet:371428 semapv:UnspecifiedMatching +obo:GARD_13743 Multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch OMIM:259600 semapv:UnspecifiedMatching +obo:GARD_13774 White-Sutton syndrome skos:exactMatch Orphanet:468678 semapv:UnspecifiedMatching +obo:GARD_13774 White-Sutton syndrome skos:narrowMatch OMIM:616364 semapv:UnspecifiedMatching +obo:GARD_13781 AICA-ribosiduria skos:exactMatch Orphanet:250977 semapv:UnspecifiedMatching +obo:GARD_13781 AICA-ribosiduria skos:narrowMatch OMIM:608688 semapv:UnspecifiedMatching +obo:GARD_13789 Luscan-Lumish syndrome skos:exactMatch Orphanet:597738 semapv:UnspecifiedMatching +obo:GARD_13806 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome skos:exactMatch Orphanet:599082 semapv:UnspecifiedMatching +obo:GARD_13806 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome skos:narrowMatch OMIM:618205 semapv:UnspecifiedMatching +obo:GARD_13809 Fundus albipunctatus skos:exactMatch Orphanet:227796 semapv:UnspecifiedMatching +obo:GARD_13809 Fundus albipunctatus skos:narrowMatch OMIM:136880 semapv:UnspecifiedMatching +obo:GARD_13811 Malan overgrowth syndrome skos:exactMatch Orphanet:420179 semapv:UnspecifiedMatching +obo:GARD_13811 Malan overgrowth syndrome skos:narrowMatch OMIM:614753 semapv:UnspecifiedMatching +obo:GARD_13818 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency skos:exactMatch Orphanet:506334 semapv:UnspecifiedMatching +obo:GARD_13818 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency skos:narrowMatch OMIM:617575 semapv:UnspecifiedMatching +obo:GARD_13824 Proteasome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 semapv:UnspecifiedMatching +obo:GARD_13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:256040 semapv:UnspecifiedMatching +obo:GARD_13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:617591 semapv:UnspecifiedMatching +obo:GARD_13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:618048 semapv:UnspecifiedMatching +obo:GARD_13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:619175 semapv:UnspecifiedMatching +obo:GARD_13824 Proteasome-associated autoinflammatory syndrome skos:narrowMatch OMIM:619183 semapv:UnspecifiedMatching +obo:GARD_139 Familial atrial myxoma skos:exactMatch Orphanet:615 semapv:UnspecifiedMatching +obo:GARD_139 Familial atrial myxoma skos:narrowMatch OMIM:255960 semapv:UnspecifiedMatching +obo:GARD_1391 Cleft palate-lateral synechia syndrome skos:exactMatch Orphanet:2016 semapv:UnspecifiedMatching +obo:GARD_1391 Cleft palate-lateral synechia syndrome skos:narrowMatch OMIM:119550 semapv:UnspecifiedMatching +obo:GARD_1392 Cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch Orphanet:2015 semapv:UnspecifiedMatching +obo:GARD_1393 Cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch Orphanet:2010 semapv:UnspecifiedMatching +obo:GARD_1393 Cleft palate-stapes fixation-oligodontia syndrome skos:narrowMatch OMIM:216300 semapv:UnspecifiedMatching +obo:GARD_1394 X-linked cleft palate and ankyloglossia skos:exactMatch Orphanet:324601 semapv:UnspecifiedMatching +obo:GARD_1394 X-linked cleft palate and ankyloglossia skos:narrowMatch OMIM:303400 semapv:UnspecifiedMatching +obo:GARD_140 Atresia of small intestine skos:exactMatch Orphanet:1201 semapv:UnspecifiedMatching +obo:GARD_140 Atresia of small intestine skos:narrowMatch OMIM:243600 semapv:UnspecifiedMatching +obo:GARD_1402 Thanatophoric dysplasia type 2 skos:exactMatch Orphanet:93274 semapv:UnspecifiedMatching +obo:GARD_1402 Thanatophoric dysplasia type 2 skos:narrowMatch OMIM:156830 semapv:UnspecifiedMatching +obo:GARD_1402 Thanatophoric dysplasia type 2 skos:narrowMatch OMIM:187601 semapv:UnspecifiedMatching +obo:GARD_1404 Micromelic bone dysplasia with cloverleaf skull skos:broadMatch Orphanet:93274 semapv:UnspecifiedMatching +obo:GARD_1404 Micromelic bone dysplasia with cloverleaf skull skos:exactMatch OMIM:156830 semapv:UnspecifiedMatching +obo:GARD_1410 Joubert syndrome with hepatic defect skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching +obo:GARD_1410 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:216360 semapv:UnspecifiedMatching +obo:GARD_1410 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:619111 semapv:UnspecifiedMatching +obo:GARD_1410 Joubert syndrome with hepatic defect skos:narrowMatch OMIM:619113 semapv:UnspecifiedMatching +obo:GARD_1413 Cocaine embryofetopathy skos:exactMatch Orphanet:1911 semapv:UnspecifiedMatching +obo:GARD_1415 Cockayne syndrome type 1 skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching +obo:GARD_1415 Cockayne syndrome type 1 skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +obo:GARD_1415 Cockayne syndrome type 1 skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +obo:GARD_1417 Cockayne syndrome type 3 skos:exactMatch Orphanet:90324 semapv:UnspecifiedMatching +obo:GARD_1417 Cockayne syndrome type 3 skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +obo:GARD_1417 Cockayne syndrome type 3 skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +obo:GARD_1418 CODAS syndrome skos:exactMatch Orphanet:1458 semapv:UnspecifiedMatching +obo:GARD_1418 CODAS syndrome skos:narrowMatch OMIM:600373 semapv:UnspecifiedMatching +obo:GARD_1420 Cockayne syndrome type 2 skos:exactMatch Orphanet:90322 semapv:UnspecifiedMatching +obo:GARD_1420 Cockayne syndrome type 2 skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +obo:GARD_1420 Cockayne syndrome type 2 skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +obo:GARD_1421 Cogan syndrome skos:exactMatch Orphanet:1467 semapv:UnspecifiedMatching +obo:GARD_1425 Cole-Carpenter syndrome skos:exactMatch Orphanet:2050 semapv:UnspecifiedMatching +obo:GARD_1425 Cole-Carpenter syndrome skos:narrowMatch OMIM:112240 semapv:UnspecifiedMatching +obo:GARD_1425 Cole-Carpenter syndrome skos:narrowMatch OMIM:616294 semapv:UnspecifiedMatching +obo:GARD_1428 Dislocation of the hip-dysmorphism syndrome skos:exactMatch Orphanet:2412 semapv:UnspecifiedMatching +obo:GARD_1428 Dislocation of the hip-dysmorphism syndrome skos:narrowMatch OMIM:601450 semapv:UnspecifiedMatching +obo:GARD_143 Hypertrichosis cubiti skos:exactMatch Orphanet:2220 semapv:UnspecifiedMatching +obo:GARD_143 Hypertrichosis cubiti skos:narrowMatch OMIM:139600 semapv:UnspecifiedMatching +obo:GARD_1433 Coloboma of eye lens skos:exactMatch Orphanet:98943 semapv:UnspecifiedMatching +obo:GARD_1434 Coloboma of iris skos:exactMatch Orphanet:98944 semapv:UnspecifiedMatching +obo:GARD_1434 Coloboma of iris skos:narrowMatch OMIM:120200 semapv:UnspecifiedMatching +obo:GARD_1436 Coloboma of macula skos:exactMatch Orphanet:98945 semapv:UnspecifiedMatching +obo:GARD_1437 Coloboma of macula-brachydactyly type B syndrome skos:exactMatch Orphanet:1471 semapv:UnspecifiedMatching +obo:GARD_1437 Coloboma of macula-brachydactyly type B syndrome skos:narrowMatch OMIM:120400 semapv:UnspecifiedMatching +obo:GARD_1438 Coloboma of optic disc skos:exactMatch Orphanet:98947 semapv:UnspecifiedMatching +obo:GARD_144 Prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch Orphanet:2083 semapv:UnspecifiedMatching +obo:GARD_144 Prominent glabella-microcephaly-hypogenitalism syndrome skos:narrowMatch OMIM:247990 semapv:UnspecifiedMatching +obo:GARD_1440 Uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch Orphanet:1473 semapv:UnspecifiedMatching +obo:GARD_1440 Uveal coloboma-cleft lip and palate-intellectual disability skos:narrowMatch OMIM:120433 semapv:UnspecifiedMatching +obo:GARD_1443 Anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch Orphanet:77298 semapv:UnspecifiedMatching +obo:GARD_1443 Anophthalmia/microphthalmia-esophageal atresia syndrome skos:narrowMatch OMIM:206900 semapv:UnspecifiedMatching +obo:GARD_1446 Colonic atresia skos:exactMatch Orphanet:1198 semapv:UnspecifiedMatching +obo:GARD_1446 Colonic atresia skos:narrowMatch OMIM:303650 semapv:UnspecifiedMatching +obo:GARD_1452 Complement component 2 deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_1452 Complement component 2 deficiency skos:exactMatch OMIM:217000 semapv:UnspecifiedMatching +obo:GARD_1454 Complete atrioventricular septal defect skos:exactMatch Orphanet:1329 semapv:UnspecifiedMatching +obo:GARD_1460 Conductive deafness-malformed external ear syndrome skos:exactMatch Orphanet:3216 semapv:UnspecifiedMatching +obo:GARD_1460 Conductive deafness-malformed external ear syndrome skos:narrowMatch OMIM:221300 semapv:UnspecifiedMatching +obo:GARD_1462 Cone-rod dystrophy, x-linked, 2 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +obo:GARD_1462 Cone-rod dystrophy, x-linked, 2 skos:exactMatch OMIM:300085 semapv:UnspecifiedMatching +obo:GARD_1463 Jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching +obo:GARD_1463 Jalili syndrome skos:narrowMatch OMIM:217080 semapv:UnspecifiedMatching +obo:GARD_1465 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:90790 semapv:UnspecifiedMatching +obo:GARD_1465 Congenital lipoid adrenal hyperplasia due to STAR deficency skos:narrowMatch OMIM:201710 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:exactMatch Orphanet:418 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:201710 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:201810 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:201910 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:202010 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:202110 semapv:UnspecifiedMatching +obo:GARD_1467 Congenital adrenal hyperplasia skos:narrowMatch OMIM:613571 semapv:UnspecifiedMatching +obo:GARD_1469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch Orphanet:90793 semapv:UnspecifiedMatching +obo:GARD_1469 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:narrowMatch OMIM:202110 semapv:UnspecifiedMatching +obo:GARD_1470 Alopecia, congenital skos:broadMatch Orphanet:700 semapv:UnspecifiedMatching +obo:GARD_1470 Alopecia, congenital skos:exactMatch OMIM:300042 semapv:UnspecifiedMatching +obo:GARD_1474 Autosomal dominant congenital benign spinal muscular atrophy skos:exactMatch Orphanet:1216 semapv:UnspecifiedMatching +obo:GARD_1474 Autosomal dominant congenital benign spinal muscular atrophy skos:narrowMatch OMIM:600175 semapv:UnspecifiedMatching +obo:GARD_1475 Congenital respiratory-biliary fistula skos:exactMatch Orphanet:2040 semapv:UnspecifiedMatching +obo:GARD_1480 Fetal cytomegalovirus syndrome skos:exactMatch Orphanet:294 semapv:UnspecifiedMatching +obo:GARD_1481 Congenital diaphragmatic hernia skos:exactMatch Orphanet:2140 semapv:UnspecifiedMatching +obo:GARD_1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:142340 semapv:UnspecifiedMatching +obo:GARD_1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:222400 semapv:UnspecifiedMatching +obo:GARD_1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:306950 semapv:UnspecifiedMatching +obo:GARD_1481 Congenital diaphragmatic hernia skos:narrowMatch OMIM:610187 semapv:UnspecifiedMatching +obo:GARD_1487 Congenital hypothyroidism skos:exactMatch Orphanet:442 semapv:UnspecifiedMatching +obo:GARD_1489 Congenital ichthyosis-microcephalus-tetraplegia syndrome skos:exactMatch Orphanet:2271 semapv:UnspecifiedMatching +obo:GARD_1493 Congenital mesoblastic nephroma skos:exactMatch Orphanet:2665 semapv:UnspecifiedMatching +obo:GARD_1495 Congenital mitral malformation skos:exactMatch Orphanet:2447 semapv:UnspecifiedMatching +obo:GARD_1496 Congenital mitral stenosis skos:exactMatch Orphanet:99057 semapv:UnspecifiedMatching +obo:GARD_1500 Congenital nephrotic syndrome, Finnish type skos:exactMatch Orphanet:839 semapv:UnspecifiedMatching +obo:GARD_1500 Congenital nephrotic syndrome, Finnish type skos:narrowMatch OMIM:256300 semapv:UnspecifiedMatching +obo:GARD_15000 LIG4 syndrome skos:exactMatch Orphanet:99812 semapv:UnspecifiedMatching +obo:GARD_15000 LIG4 syndrome skos:narrowMatch OMIM:606593 semapv:UnspecifiedMatching +obo:GARD_15001 VEXAS syndrome skos:exactMatch Orphanet:596753 semapv:UnspecifiedMatching +obo:GARD_15001 VEXAS syndrome skos:narrowMatch OMIM:301054 semapv:UnspecifiedMatching +obo:GARD_15002 AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY skos:relatedMatch OMIM:618852 semapv:UnspecifiedMatching +obo:GARD_15003 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome skos:exactMatch Orphanet:566175 semapv:UnspecifiedMatching +obo:GARD_15003 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome skos:narrowMatch OMIM:226300 semapv:UnspecifiedMatching +obo:GARD_15004 FADD-related immunodeficiency skos:exactMatch Orphanet:306550 semapv:UnspecifiedMatching +obo:GARD_15004 FADD-related immunodeficiency skos:narrowMatch OMIM:613759 semapv:UnspecifiedMatching +obo:GARD_15007 Warburg-Cinotti syndrome skos:relatedMatch OMIM:618175 semapv:UnspecifiedMatching +obo:GARD_15008 Okur-Chung neurodevelopmental syndrome (OCNDS) skos:relatedMatch OMIM:617062 semapv:UnspecifiedMatching +obo:GARD_15010 Hereditary breast and ovarian cancer syndrome skos:exactMatch Orphanet:145 semapv:UnspecifiedMatching +obo:GARD_15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:604370 semapv:UnspecifiedMatching +obo:GARD_15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:612555 semapv:UnspecifiedMatching +obo:GARD_15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:613399 semapv:UnspecifiedMatching +obo:GARD_15010 Hereditary breast and ovarian cancer syndrome skos:narrowMatch OMIM:614291 semapv:UnspecifiedMatching +obo:GARD_15011 Hypophosphatemic rickets, x-linked recessive skos:broadMatch Orphanet:93622 semapv:UnspecifiedMatching +obo:GARD_15011 Hypophosphatemic rickets, x-linked recessive skos:exactMatch OMIM:300554 semapv:UnspecifiedMatching +obo:GARD_15012 Autosomal recessive malignant osteopetrosis skos:exactMatch Orphanet:667 semapv:UnspecifiedMatching +obo:GARD_15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:259700 semapv:UnspecifiedMatching +obo:GARD_15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:259710 semapv:UnspecifiedMatching +obo:GARD_15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:611490 semapv:UnspecifiedMatching +obo:GARD_15012 Autosomal recessive malignant osteopetrosis skos:narrowMatch OMIM:615085 semapv:UnspecifiedMatching +obo:GARD_15013 Craniometaphyseal dysplasia skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching +obo:GARD_15013 Craniometaphyseal dysplasia skos:narrowMatch OMIM:123000 semapv:UnspecifiedMatching +obo:GARD_15013 Craniometaphyseal dysplasia skos:narrowMatch OMIM:218400 semapv:UnspecifiedMatching +obo:GARD_15014 Solitary fibrous tumor/hemangiopericytoma skos:exactMatch Orphanet:2126 semapv:UnspecifiedMatching +obo:GARD_15014 Solitary fibrous tumor/hemangiopericytoma skos:narrowMatch OMIM:234820 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:exactMatch Orphanet:49382 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:narrowMatch OMIM:216900 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:narrowMatch OMIM:262300 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:narrowMatch OMIM:610024 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:narrowMatch OMIM:613093 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:narrowMatch OMIM:613856 semapv:UnspecifiedMatching +obo:GARD_15015 Achromatopsia skos:narrowMatch OMIM:616517 semapv:UnspecifiedMatching +obo:GARD_15016 Striate palmoplantar keratoderma skos:exactMatch Orphanet:50942 semapv:UnspecifiedMatching +obo:GARD_15016 Striate palmoplantar keratoderma skos:narrowMatch OMIM:148700 semapv:UnspecifiedMatching +obo:GARD_15016 Striate palmoplantar keratoderma skos:narrowMatch OMIM:607654 semapv:UnspecifiedMatching +obo:GARD_15016 Striate palmoplantar keratoderma skos:narrowMatch OMIM:612908 semapv:UnspecifiedMatching +obo:GARD_15017 Trichorhinophalangeal syndrome type 1 and 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching +obo:GARD_15017 Trichorhinophalangeal syndrome type 1 and 3 skos:narrowMatch OMIM:190350 semapv:UnspecifiedMatching +obo:GARD_15017 Trichorhinophalangeal syndrome type 1 and 3 skos:narrowMatch OMIM:190351 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:exactMatch Orphanet:1478 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:108800 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:607941 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:611363 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:612794 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:613087 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:614089 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:614433 semapv:UnspecifiedMatching +obo:GARD_15018 Interatrial communication skos:narrowMatch OMIM:614475 semapv:UnspecifiedMatching +obo:GARD_15019 Fibronectin glomerulopathy skos:exactMatch Orphanet:84090 semapv:UnspecifiedMatching +obo:GARD_15019 Fibronectin glomerulopathy skos:narrowMatch OMIM:137950 semapv:UnspecifiedMatching +obo:GARD_15019 Fibronectin glomerulopathy skos:narrowMatch OMIM:601894 semapv:UnspecifiedMatching +obo:GARD_1502 Short bowel syndrome skos:exactMatch Orphanet:104008 semapv:UnspecifiedMatching +obo:GARD_15020 Non-acquired panhypopituitarism skos:exactMatch Orphanet:90695 semapv:UnspecifiedMatching +obo:GARD_15020 Non-acquired panhypopituitarism skos:narrowMatch OMIM:262600 semapv:UnspecifiedMatching +obo:GARD_15020 Non-acquired panhypopituitarism skos:narrowMatch OMIM:312000 semapv:UnspecifiedMatching +obo:GARD_15021 Angioma serpiginosum skos:exactMatch Orphanet:95429 semapv:UnspecifiedMatching +obo:GARD_15021 Angioma serpiginosum skos:narrowMatch OMIM:106050 semapv:UnspecifiedMatching +obo:GARD_15021 Angioma serpiginosum skos:narrowMatch OMIM:300652 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:254300 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:601462 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:605809 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:608930 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:608931 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:614198 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:615120 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616304 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616313 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616314 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616321 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616322 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616323 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616324 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616325 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616326 semapv:UnspecifiedMatching +obo:GARD_15022 Postsynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616720 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:exactMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:254210 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:615120 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616040 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616330 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:616720 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:617143 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:617239 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:618197 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:618198 semapv:UnspecifiedMatching +obo:GARD_15023 Presynaptic congenital myasthenic syndromes skos:narrowMatch OMIM:618323 semapv:UnspecifiedMatching +obo:GARD_15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch Orphanet:166002 semapv:UnspecifiedMatching +obo:GARD_15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:600204 semapv:UnspecifiedMatching +obo:GARD_15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:600969 semapv:UnspecifiedMatching +obo:GARD_15024 Multiple epiphyseal dysplasia due to collagen 9 anomaly skos:narrowMatch OMIM:614135 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:216950 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:217000 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:613652 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:613783 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:614379 semapv:UnspecifiedMatching +obo:GARD_15025 Immunodeficiency due to a classical component pathway complement deficiency skos:narrowMatch OMIM:614380 semapv:UnspecifiedMatching +obo:GARD_15026 Hermansky-Pudlak syndrome due to AP-3 deficiency skos:exactMatch Orphanet:183678 semapv:UnspecifiedMatching +obo:GARD_15026 Hermansky-Pudlak syndrome due to AP-3 deficiency skos:narrowMatch OMIM:608233 semapv:UnspecifiedMatching +obo:GARD_15026 Hermansky-Pudlak syndrome due to AP-3 deficiency skos:narrowMatch OMIM:617050 semapv:UnspecifiedMatching +obo:GARD_15027 Pulmonary capillary hemangiomatosis skos:exactMatch Orphanet:199241 semapv:UnspecifiedMatching +obo:GARD_15027 Pulmonary capillary hemangiomatosis skos:narrowMatch OMIM:234810 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:301008 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:301058 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:614558 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615476 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615833 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615871 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:615905 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616056 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616211 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616339 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616346 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616366 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:616409 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617020 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617105 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617106 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617132 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617153 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617162 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617166 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617829 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617830 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617831 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617836 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617854 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:617938 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618008 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618012 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618201 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618396 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618437 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618468 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618557 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618559 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618910 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618916 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:618959 semapv:UnspecifiedMatching +obo:GARD_15028 Non-specific early-onset epileptic encephalopathy skos:narrowMatch OMIM:619124 semapv:UnspecifiedMatching +obo:GARD_15029 Aarskog syndrome, autosomal dominant skos:broadMatch Orphanet:915 semapv:UnspecifiedMatching +obo:GARD_15029 Aarskog syndrome, autosomal dominant skos:exactMatch OMIM:100050 semapv:UnspecifiedMatching +obo:GARD_1503 Femoral agenesis/hypoplasia skos:exactMatch Orphanet:1987 semapv:UnspecifiedMatching +obo:GARD_15030 Acrodysostosis 1 with or without hormone resistance skos:broadMatch Orphanet:280651 semapv:UnspecifiedMatching +obo:GARD_15030 Acrodysostosis 1 with or without hormone resistance skos:broadMatch Orphanet:950 semapv:UnspecifiedMatching +obo:GARD_15030 Acrodysostosis 1 with or without hormone resistance skos:exactMatch OMIM:101800 semapv:UnspecifiedMatching +obo:GARD_15031 Acroosteolysis skos:broadMatch Orphanet:955 semapv:UnspecifiedMatching +obo:GARD_15031 Acroosteolysis skos:exactMatch OMIM:102400 semapv:UnspecifiedMatching +obo:GARD_15032 Spermatogenic failure 6 skos:broadMatch Orphanet:171709 semapv:UnspecifiedMatching +obo:GARD_15032 Spermatogenic failure 6 skos:exactMatch OMIM:102530 semapv:UnspecifiedMatching +obo:GARD_15033 Adrenocortical hypofunction, chronic primary congenital skos:broadMatch Orphanet:85138 semapv:UnspecifiedMatching +obo:GARD_15033 Adrenocortical hypofunction, chronic primary congenital skos:exactMatch OMIM:103230 semapv:UnspecifiedMatching +obo:GARD_15034 Allergic bronchopulmonary aspergillosis, familial skos:broadMatch Orphanet:1164 semapv:UnspecifiedMatching +obo:GARD_15034 Allergic bronchopulmonary aspergillosis, familial skos:exactMatch OMIM:103920 semapv:UnspecifiedMatching +obo:GARD_15035 Alopecia areata 1 skos:broadMatch Orphanet:700 semapv:UnspecifiedMatching +obo:GARD_15035 Alopecia areata 1 skos:exactMatch OMIM:104000 semapv:UnspecifiedMatching +obo:GARD_15036 Alternating hemiplegia of childhood 1 skos:broadMatch Orphanet:2131 semapv:UnspecifiedMatching +obo:GARD_15036 Alternating hemiplegia of childhood 1 skos:exactMatch OMIM:104290 semapv:UnspecifiedMatching +obo:GARD_15037 Amelogenesis imperfecta, type ib skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_15037 Amelogenesis imperfecta, type ib skos:exactMatch OMIM:104500 semapv:UnspecifiedMatching +obo:GARD_15038 Amelogenesis imperfecta, type ia skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_15038 Amelogenesis imperfecta, type ia skos:exactMatch OMIM:104530 semapv:UnspecifiedMatching +obo:GARD_15039 Diamond-blackfan anemia 1 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15039 Diamond-blackfan anemia 1 skos:exactMatch OMIM:105650 semapv:UnspecifiedMatching +obo:GARD_15040 Nail disorder, nonsyndromic congenital, 6 skos:broadMatch Orphanet:90390 semapv:UnspecifiedMatching +obo:GARD_15040 Nail disorder, nonsyndromic congenital, 6 skos:exactMatch OMIM:107000 semapv:UnspecifiedMatching +obo:GARD_15041 Spermatogenic failure 2 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15041 Spermatogenic failure 2 skos:exactMatch OMIM:108420 semapv:UnspecifiedMatching +obo:GARD_15042 Leukemia, chronic lymphocytic, susceptibility to, 2 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +obo:GARD_15042 Leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch OMIM:109543 semapv:UnspecifiedMatching +obo:GARD_15043 Biliary cirrhosis, primary, 1 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +obo:GARD_15043 Biliary cirrhosis, primary, 1 skos:exactMatch OMIM:109720 semapv:UnspecifiedMatching +obo:GARD_15044 Bifid nose, autosomal dominant skos:broadMatch Orphanet:2695 semapv:UnspecifiedMatching +obo:GARD_15044 Bifid nose, autosomal dominant skos:exactMatch OMIM:109740 semapv:UnspecifiedMatching +obo:GARD_15045 Breasts and/or nipples, aplasia or hypoplasia of, 1 skos:broadMatch Orphanet:180188 semapv:UnspecifiedMatching +obo:GARD_15045 Breasts and/or nipples, aplasia or hypoplasia of, 1 skos:exactMatch OMIM:113700 semapv:UnspecifiedMatching +obo:GARD_15046 Cataract 7 skos:broadMatch Orphanet:98989 semapv:UnspecifiedMatching +obo:GARD_15046 Cataract 7 skos:exactMatch OMIM:115660 semapv:UnspecifiedMatching +obo:GARD_15047 Cataract 1, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +obo:GARD_15047 Cataract 1, multiple types skos:exactMatch OMIM:116200 semapv:UnspecifiedMatching +obo:GARD_15048 Sotos syndrome skos:broadMatch Orphanet:821 semapv:UnspecifiedMatching +obo:GARD_15048 Sotos syndrome skos:exactMatch OMIM:117550 semapv:UnspecifiedMatching +obo:GARD_15049 Klippel-feil syndrome 1, autosomal dominant skos:broadMatch Orphanet:2345 semapv:UnspecifiedMatching +obo:GARD_15049 Klippel-feil syndrome 1, autosomal dominant skos:exactMatch OMIM:118100 semapv:UnspecifiedMatching +obo:GARD_15050 Split-hand/foot malformation with long bone deficiency 1 skos:broadMatch Orphanet:3329 semapv:UnspecifiedMatching +obo:GARD_15050 Split-hand/foot malformation with long bone deficiency 1 skos:exactMatch OMIM:119100 semapv:UnspecifiedMatching +obo:GARD_15051 Familial cold autoinflammatory syndrome 1 skos:broadMatch Orphanet:47045 semapv:UnspecifiedMatching +obo:GARD_15051 Familial cold autoinflammatory syndrome 1 skos:exactMatch OMIM:120100 semapv:UnspecifiedMatching +obo:GARD_15052 Lynch syndrome i skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15052 Lynch syndrome i skos:exactMatch OMIM:120435 semapv:UnspecifiedMatching +obo:GARD_15053 Branchiootic syndrome 2 skos:broadMatch Orphanet:52429 semapv:UnspecifiedMatching +obo:GARD_15053 Branchiootic syndrome 2 skos:exactMatch OMIM:120502 semapv:UnspecifiedMatching +obo:GARD_15054 Seizures, benign familial neonatal, 2 skos:broadMatch Orphanet:1949 semapv:UnspecifiedMatching +obo:GARD_15054 Seizures, benign familial neonatal, 2 skos:exactMatch OMIM:121201 semapv:UnspecifiedMatching +obo:GARD_15055 Cutis laxa, autosomal dominant 1 skos:broadMatch Orphanet:90348 semapv:UnspecifiedMatching +obo:GARD_15055 Cutis laxa, autosomal dominant 1 skos:exactMatch OMIM:123700 semapv:UnspecifiedMatching +obo:GARD_15056 Mitochondrial complex iii deficiency, nuclear type 1 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_15056 Mitochondrial complex iii deficiency, nuclear type 1 skos:exactMatch OMIM:124000 semapv:UnspecifiedMatching +obo:GARD_15057 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:broadMatch Orphanet:1215 semapv:UnspecifiedMatching +obo:GARD_15057 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:125250 semapv:UnspecifiedMatching +obo:GARD_15058 Diabetes insipidus, nephrogenic, 2, autosomal skos:broadMatch Orphanet:223 semapv:UnspecifiedMatching +obo:GARD_15058 Diabetes insipidus, nephrogenic, 2, autosomal skos:exactMatch OMIM:125800 semapv:UnspecifiedMatching +obo:GARD_15059 Digitotalar dysmorphism skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +obo:GARD_15059 Digitotalar dysmorphism skos:exactMatch OMIM:126050 semapv:UnspecifiedMatching +obo:GARD_15060 Basal laminar drusen skos:broadMatch Orphanet:75376 semapv:UnspecifiedMatching +obo:GARD_15060 Basal laminar drusen skos:exactMatch OMIM:126700 semapv:UnspecifiedMatching +obo:GARD_15061 Dystonia 1, torsion, autosomal dominant skos:broadMatch Orphanet:256 semapv:UnspecifiedMatching +obo:GARD_15061 Dystonia 1, torsion, autosomal dominant skos:exactMatch OMIM:128100 semapv:UnspecifiedMatching +obo:GARD_15062 Ectopia lentis 1, isolated, autosomal dominant skos:broadMatch Orphanet:1885 semapv:UnspecifiedMatching +obo:GARD_15062 Ectopia lentis 1, isolated, autosomal dominant skos:exactMatch OMIM:129600 semapv:UnspecifiedMatching +obo:GARD_15063 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:broadMatch Orphanet:1896 semapv:UnspecifiedMatching +obo:GARD_15063 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:exactMatch OMIM:129900 semapv:UnspecifiedMatching +obo:GARD_15064 Elliptocytosis 2 skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +obo:GARD_15064 Elliptocytosis 2 skos:exactMatch OMIM:130600 semapv:UnspecifiedMatching +obo:GARD_15065 Photoparoxysmal response 1 skos:broadMatch Orphanet:166409 semapv:UnspecifiedMatching +obo:GARD_15065 Photoparoxysmal response 1 skos:exactMatch OMIM:132100 semapv:UnspecifiedMatching +obo:GARD_15066 Erythroleukemia, familial, susceptibility to skos:broadMatch Orphanet:318 semapv:UnspecifiedMatching +obo:GARD_15066 Erythroleukemia, familial, susceptibility to skos:exactMatch OMIM:133180 semapv:UnspecifiedMatching +obo:GARD_15067 Cockayne syndrome b skos:broadMatch Orphanet:90321 semapv:UnspecifiedMatching +obo:GARD_15067 Cockayne syndrome b skos:broadMatch Orphanet:90322 semapv:UnspecifiedMatching +obo:GARD_15067 Cockayne syndrome b skos:broadMatch Orphanet:90324 semapv:UnspecifiedMatching +obo:GARD_15067 Cockayne syndrome b skos:exactMatch OMIM:133540 semapv:UnspecifiedMatching +obo:GARD_15068 Exudative vitreoretinopathy 1 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_15068 Exudative vitreoretinopathy 1 skos:exactMatch OMIM:133780 semapv:UnspecifiedMatching +obo:GARD_15069 Familial mediterranean fever, autosomal dominant skos:broadMatch Orphanet:342 semapv:UnspecifiedMatching +obo:GARD_15069 Familial mediterranean fever, autosomal dominant skos:exactMatch OMIM:134610 semapv:UnspecifiedMatching +obo:GARD_15070 Desmoid disease, hereditary skos:broadMatch Orphanet:873 semapv:UnspecifiedMatching +obo:GARD_15070 Desmoid disease, hereditary skos:exactMatch OMIM:135290 semapv:UnspecifiedMatching +obo:GARD_15071 Zimmermann-laband syndrome 1 skos:broadMatch Orphanet:3473 semapv:UnspecifiedMatching +obo:GARD_15071 Zimmermann-laband syndrome 1 skos:exactMatch OMIM:135500 semapv:UnspecifiedMatching +obo:GARD_15072 Coffin-siris syndrome 1 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_15072 Coffin-siris syndrome 1 skos:exactMatch OMIM:135900 semapv:UnspecifiedMatching +obo:GARD_15076 Hirschsprung disease, susceptibility to, 1 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15076 Hirschsprung disease, susceptibility to, 1 skos:exactMatch OMIM:142623 semapv:UnspecifiedMatching +obo:GARD_15077 Hyperlipidemia, familial combined, 3 skos:broadMatch Orphanet:309015 semapv:UnspecifiedMatching +obo:GARD_15077 Hyperlipidemia, familial combined, 3 skos:exactMatch OMIM:144250 semapv:UnspecifiedMatching +obo:GARD_15078 Hypotrichosis 4 skos:broadMatch Orphanet:444 semapv:UnspecifiedMatching +obo:GARD_15078 Hypotrichosis 4 skos:exactMatch OMIM:146550 semapv:UnspecifiedMatching +obo:GARD_15079 Cholestasis, intrahepatic, of pregnancy, 1 skos:broadMatch Orphanet:69665 semapv:UnspecifiedMatching +obo:GARD_15079 Cholestasis, intrahepatic, of pregnancy, 1 skos:exactMatch OMIM:147480 semapv:UnspecifiedMatching +obo:GARD_15080 Kaposi sarcoma, susceptibility to skos:broadMatch Orphanet:33276 semapv:UnspecifiedMatching +obo:GARD_15080 Kaposi sarcoma, susceptibility to skos:exactMatch OMIM:148000 semapv:UnspecifiedMatching +obo:GARD_15081 Palmoplantar keratoderma, punctate type ia skos:broadMatch Orphanet:79501 semapv:UnspecifiedMatching +obo:GARD_15081 Palmoplantar keratoderma, punctate type ia skos:exactMatch OMIM:148600 semapv:UnspecifiedMatching +obo:GARD_15082 Bernard-soulier syndrome, type a2, autosomal dominant skos:broadMatch Orphanet:274 semapv:UnspecifiedMatching +obo:GARD_15082 Bernard-soulier syndrome, type a2, autosomal dominant skos:exactMatch OMIM:153670 semapv:UnspecifiedMatching +obo:GARD_15083 46,xy sex reversal 4 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_15083 46,xy sex reversal 4 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_15083 46,xy sex reversal 4 skos:exactMatch OMIM:154230 semapv:UnspecifiedMatching +obo:GARD_15086 Mirror movements 1 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +obo:GARD_15086 Mirror movements 1 skos:exactMatch OMIM:157600 semapv:UnspecifiedMatching +obo:GARD_15087 Facioscapulohumeral muscular dystrophy 1 skos:broadMatch Orphanet:269 semapv:UnspecifiedMatching +obo:GARD_15087 Facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 semapv:UnspecifiedMatching +obo:GARD_15088 Facioscapulohumeral muscular dystrophy 2, digenic skos:broadMatch Orphanet:269 semapv:UnspecifiedMatching +obo:GARD_15088 Facioscapulohumeral muscular dystrophy 2, digenic skos:exactMatch OMIM:158901 semapv:UnspecifiedMatching +obo:GARD_15089 Muscular dystrophy, pseudohypertrophic, with internalized capillaries skos:broadMatch Orphanet:98895 semapv:UnspecifiedMatching +obo:GARD_15089 Muscular dystrophy, pseudohypertrophic, with internalized capillaries skos:exactMatch OMIM:159050 semapv:UnspecifiedMatching +obo:GARD_15090 Carney complex, type 1 skos:broadMatch Orphanet:1359 semapv:UnspecifiedMatching +obo:GARD_15090 Carney complex, type 1 skos:exactMatch OMIM:160980 semapv:UnspecifiedMatching +obo:GARD_15091 Narcolepsy 1 skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15091 Narcolepsy 1 skos:exactMatch OMIM:161400 semapv:UnspecifiedMatching +obo:GARD_15092 Nasopharyngeal carcinoma, susceptibility to, 2 skos:broadMatch Orphanet:150 semapv:UnspecifiedMatching +obo:GARD_15092 Nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch OMIM:161550 semapv:UnspecifiedMatching +obo:GARD_15093 Candidiasis, familial, 6 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15093 Candidiasis, familial, 6 skos:exactMatch OMIM:613956 semapv:UnspecifiedMatching +obo:GARD_15094 Neurofibromatosis, type iii, mixed central and peripheral skos:broadMatch Orphanet:93921 semapv:UnspecifiedMatching +obo:GARD_15094 Neurofibromatosis, type iii, mixed central and peripheral skos:exactMatch OMIM:162260 semapv:UnspecifiedMatching +obo:GARD_15095 Neuropathy, hereditary sensory and autonomic, type ia skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +obo:GARD_15095 Neuropathy, hereditary sensory and autonomic, type ia skos:exactMatch OMIM:162400 semapv:UnspecifiedMatching +obo:GARD_15096 Night blindness, congenital stationary, autosomal dominant 2 skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15096 Night blindness, congenital stationary, autosomal dominant 2 skos:exactMatch OMIM:163500 semapv:UnspecifiedMatching +obo:GARD_15097 Oculopharyngodistal myopathy 1 skos:broadMatch Orphanet:98897 semapv:UnspecifiedMatching +obo:GARD_15097 Oculopharyngodistal myopathy 1 skos:exactMatch OMIM:164310 semapv:UnspecifiedMatching +obo:GARD_15098 Optic atrophy with demyelinating disease of cns skos:broadMatch Orphanet:99718 semapv:UnspecifiedMatching +obo:GARD_15098 Optic atrophy with demyelinating disease of cns skos:exactMatch OMIM:165200 semapv:UnspecifiedMatching +obo:GARD_15099 Optic atrophy 1 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +obo:GARD_15099 Optic atrophy 1 skos:exactMatch OMIM:165500 semapv:UnspecifiedMatching +obo:GARD_15100 Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures skos:broadMatch Orphanet:216796 semapv:UnspecifiedMatching +obo:GARD_15100 Osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures skos:exactMatch OMIM:166230 semapv:UnspecifiedMatching +obo:GARD_15101 Hypertrophic osteoarthropathy, primary, autosomal dominant skos:broadMatch Orphanet:2796 semapv:UnspecifiedMatching +obo:GARD_15101 Hypertrophic osteoarthropathy, primary, autosomal dominant skos:exactMatch OMIM:167100 semapv:UnspecifiedMatching +obo:GARD_15102 Pachyonychia congenita 1 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +obo:GARD_15102 Pachyonychia congenita 1 skos:exactMatch OMIM:167200 semapv:UnspecifiedMatching +obo:GARD_15103 Pachyonychia congenita 2 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +obo:GARD_15103 Pachyonychia congenita 2 skos:exactMatch OMIM:167210 semapv:UnspecifiedMatching +obo:GARD_15104 Pancreas, dorsal, agenesis of skos:broadMatch Orphanet:2805 semapv:UnspecifiedMatching +obo:GARD_15104 Pancreas, dorsal, agenesis of skos:exactMatch OMIM:167755 semapv:UnspecifiedMatching +obo:GARD_15105 Pheochromocytoma skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_15105 Pheochromocytoma skos:exactMatch OMIM:171300 semapv:UnspecifiedMatching +obo:GARD_15106 Gist-plus syndrome skos:broadMatch Orphanet:44890 semapv:UnspecifiedMatching +obo:GARD_15106 Gist-plus syndrome skos:exactMatch OMIM:175510 semapv:UnspecifiedMatching +obo:GARD_15107 Brain small vessel disease 1 with or without ocular anomalies skos:broadMatch Orphanet:99810 semapv:UnspecifiedMatching +obo:GARD_15107 Brain small vessel disease 1 with or without ocular anomalies skos:exactMatch OMIM:175780 semapv:UnspecifiedMatching +obo:GARD_15108 Porokeratosis 1, multiple types skos:broadMatch Orphanet:735 semapv:UnspecifiedMatching +obo:GARD_15108 Porokeratosis 1, multiple types skos:exactMatch OMIM:175800 semapv:UnspecifiedMatching +obo:GARD_15109 Retinal aplasia skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_15109 Retinal aplasia skos:exactMatch OMIM:179900 semapv:UnspecifiedMatching +obo:GARD_15110 Retinitis pigmentosa 10 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15110 Retinitis pigmentosa 10 skos:exactMatch OMIM:180105 semapv:UnspecifiedMatching +obo:GARD_15111 Retinopathy, pericentral pigmentary, dominant skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15111 Retinopathy, pericentral pigmentary, dominant skos:exactMatch OMIM:180210 semapv:UnspecifiedMatching +obo:GARD_15112 Schistosoma mansoni infection, susceptibility/resistance to skos:broadMatch Orphanet:1247 semapv:UnspecifiedMatching +obo:GARD_15112 Schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch OMIM:181460 semapv:UnspecifiedMatching +obo:GARD_15113 Spinal arachnoiditis skos:broadMatch Orphanet:137817 semapv:UnspecifiedMatching +obo:GARD_15113 Spinal arachnoiditis skos:exactMatch OMIM:182950 semapv:UnspecifiedMatching +obo:GARD_15114 Spondyloepiphyseal dysplasia tarda, autosomal dominant skos:broadMatch Orphanet:93284 semapv:UnspecifiedMatching +obo:GARD_15114 Spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch OMIM:184100 semapv:UnspecifiedMatching +obo:GARD_15115 Multiple synostoses syndrome 1 skos:broadMatch Orphanet:3237 semapv:UnspecifiedMatching +obo:GARD_15115 Multiple synostoses syndrome 1 skos:exactMatch OMIM:186500 semapv:UnspecifiedMatching +obo:GARD_15116 Thoracolaryngopelvic dysplasia skos:broadMatch Orphanet:3317 semapv:UnspecifiedMatching +obo:GARD_15116 Thoracolaryngopelvic dysplasia skos:exactMatch OMIM:187760 semapv:UnspecifiedMatching +obo:GARD_15117 Bleeding disorder, platelet-type, 17 skos:broadMatch Orphanet:721 semapv:UnspecifiedMatching +obo:GARD_15117 Bleeding disorder, platelet-type, 17 skos:exactMatch OMIM:187900 semapv:UnspecifiedMatching +obo:GARD_15118 Digeorge syndrome skos:broadMatch Orphanet:567 semapv:UnspecifiedMatching +obo:GARD_15118 Digeorge syndrome skos:exactMatch OMIM:188400 semapv:UnspecifiedMatching +obo:GARD_15119 Thyrotoxic periodic paralysis, susceptibility to, 1 skos:broadMatch Orphanet:79102 semapv:UnspecifiedMatching +obo:GARD_15119 Thyrotoxic periodic paralysis, susceptibility to, 1 skos:exactMatch OMIM:188580 semapv:UnspecifiedMatching +obo:GARD_1512 Hereditary continuous muscle fiber activity skos:exactMatch Orphanet:972 semapv:UnspecifiedMatching +obo:GARD_1512 Hereditary continuous muscle fiber activity skos:narrowMatch OMIM:160120 semapv:UnspecifiedMatching +obo:GARD_15120 Blount disease, infantile skos:broadMatch Orphanet:2768 semapv:UnspecifiedMatching +obo:GARD_15120 Blount disease, infantile skos:exactMatch OMIM:188700 semapv:UnspecifiedMatching +obo:GARD_15121 Tuberous sclerosis 1 skos:broadMatch Orphanet:805 semapv:UnspecifiedMatching +obo:GARD_15121 Tuberous sclerosis 1 skos:exactMatch OMIM:191100 semapv:UnspecifiedMatching +obo:GARD_15122 Uncombable hair syndrome 1 skos:broadMatch Orphanet:1410 semapv:UnspecifiedMatching +obo:GARD_15122 Uncombable hair syndrome 1 skos:exactMatch OMIM:191480 semapv:UnspecifiedMatching +obo:GARD_15123 Velocardiofacial syndrome skos:broadMatch Orphanet:567 semapv:UnspecifiedMatching +obo:GARD_15123 Velocardiofacial syndrome skos:exactMatch OMIM:192430 semapv:UnspecifiedMatching +obo:GARD_15124 Wilms tumor 1 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_15124 Wilms tumor 1 skos:exactMatch OMIM:194070 semapv:UnspecifiedMatching +obo:GARD_15125 Wilms tumor 3 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_15125 Wilms tumor 3 skos:exactMatch OMIM:194090 semapv:UnspecifiedMatching +obo:GARD_15126 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema skos:broadMatch Orphanet:3202 semapv:UnspecifiedMatching +obo:GARD_15126 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch OMIM:194380 semapv:UnspecifiedMatching +obo:GARD_15127 Abetalipoproteinemia skos:broadMatch Orphanet:14 semapv:UnspecifiedMatching +obo:GARD_15127 Abetalipoproteinemia skos:exactMatch OMIM:200100 semapv:UnspecifiedMatching +obo:GARD_15128 Carpenter syndrome 1 skos:broadMatch Orphanet:65759 semapv:UnspecifiedMatching +obo:GARD_15128 Carpenter syndrome 1 skos:exactMatch OMIM:201000 semapv:UnspecifiedMatching +obo:GARD_15129 Neuropathy, hereditary sensory and autonomic, type iia skos:broadMatch Orphanet:970 semapv:UnspecifiedMatching +obo:GARD_15129 Neuropathy, hereditary sensory and autonomic, type iia skos:exactMatch OMIM:201300 semapv:UnspecifiedMatching +obo:GARD_1513 Continuous spikes and waves during sleep skos:exactMatch Orphanet:725 semapv:UnspecifiedMatching +obo:GARD_1513 Continuous spikes and waves during sleep skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +obo:GARD_15130 Acrorenal syndrome, autosomal recessive skos:broadMatch Orphanet:971 semapv:UnspecifiedMatching +obo:GARD_15130 Acrorenal syndrome, autosomal recessive skos:exactMatch OMIM:201310 semapv:UnspecifiedMatching +obo:GARD_15131 Adrenal hypoplasia, cytomegalic type skos:broadMatch Orphanet:95702 semapv:UnspecifiedMatching +obo:GARD_15131 Adrenal hypoplasia, cytomegalic type skos:exactMatch OMIM:202155 semapv:UnspecifiedMatching +obo:GARD_15132 Adrenocortical carcinoma, hereditary skos:broadMatch Orphanet:1501 semapv:UnspecifiedMatching +obo:GARD_15132 Adrenocortical carcinoma, hereditary skos:exactMatch OMIM:202300 semapv:UnspecifiedMatching +obo:GARD_15133 Adrenocortical unresponsiveness to acth with postreceptor defect skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +obo:GARD_15133 Adrenocortical unresponsiveness to acth with postreceptor defect skos:exactMatch OMIM:202355 semapv:UnspecifiedMatching +obo:GARD_15134 Peroxisome biogenesis disorder 2b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15134 Peroxisome biogenesis disorder 2b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15134 Peroxisome biogenesis disorder 2b skos:exactMatch OMIM:202370 semapv:UnspecifiedMatching +obo:GARD_15135 Alopecia universalis congenita skos:broadMatch Orphanet:701 semapv:UnspecifiedMatching +obo:GARD_15135 Alopecia universalis congenita skos:exactMatch OMIM:203655 semapv:UnspecifiedMatching +obo:GARD_15136 Amelogenesis imperfecta, type ic skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_15136 Amelogenesis imperfecta, type ic skos:exactMatch OMIM:204650 semapv:UnspecifiedMatching +obo:GARD_15137 Amyotrophic lateral sclerosis 2, juvenile skos:broadMatch Orphanet:300605 semapv:UnspecifiedMatching +obo:GARD_15137 Amyotrophic lateral sclerosis 2, juvenile skos:exactMatch OMIM:205100 semapv:UnspecifiedMatching +obo:GARD_15138 Amyotrophic lateral sclerosis with polyglucosan bodies skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15138 Amyotrophic lateral sclerosis with polyglucosan bodies skos:exactMatch OMIM:205250 semapv:UnspecifiedMatching +obo:GARD_15139 Arthrogryposis, renal dysfunction, and cholestasis 1 skos:broadMatch Orphanet:2697 semapv:UnspecifiedMatching +obo:GARD_15139 Arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch OMIM:208085 semapv:UnspecifiedMatching +obo:GARD_15140 Short-rib thoracic dysplasia 1 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15140 Short-rib thoracic dysplasia 1 with or without polydactyly skos:exactMatch OMIM:208500 semapv:UnspecifiedMatching +obo:GARD_15141 Ataxia-telangiectasia with generalized skin pigmentation and early death skos:broadMatch Orphanet:100 semapv:UnspecifiedMatching +obo:GARD_15141 Ataxia-telangiectasia with generalized skin pigmentation and early death skos:exactMatch OMIM:208910 semapv:UnspecifiedMatching +obo:GARD_15142 Bifid nose, autosomal recessive skos:broadMatch Orphanet:2695 semapv:UnspecifiedMatching +obo:GARD_15142 Bifid nose, autosomal recessive skos:exactMatch OMIM:210400 semapv:UnspecifiedMatching +obo:GARD_15143 Seckel syndrome 1 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_15143 Seckel syndrome 1 skos:exactMatch OMIM:210600 semapv:UnspecifiedMatching +obo:GARD_15144 Microcephalic osteodysplastic primordial dwarfism, type i skos:broadMatch Orphanet:2636 semapv:UnspecifiedMatching +obo:GARD_15144 Microcephalic osteodysplastic primordial dwarfism, type i skos:exactMatch OMIM:210710 semapv:UnspecifiedMatching +obo:GARD_15145 Microcephalic osteodysplastic primordial dwarfism, type iii skos:broadMatch Orphanet:2636 semapv:UnspecifiedMatching +obo:GARD_15145 Microcephalic osteodysplastic primordial dwarfism, type iii skos:exactMatch OMIM:210730 semapv:UnspecifiedMatching +obo:GARD_15146 Tumoral calcinosis, hyperphosphatemic, familial, 1 skos:broadMatch Orphanet:306661 semapv:UnspecifiedMatching +obo:GARD_15146 Tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch OMIM:211900 semapv:UnspecifiedMatching +obo:GARD_15148 Cardiac lipidosis, familial skos:broadMatch Orphanet:137675 semapv:UnspecifiedMatching +obo:GARD_15148 Cardiac lipidosis, familial skos:exactMatch OMIM:212080 semapv:UnspecifiedMatching +obo:GARD_15149 Peroxisome biogenesis disorder 2a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15149 Peroxisome biogenesis disorder 2a (zellweger) skos:exactMatch OMIM:214110 semapv:UnspecifiedMatching +obo:GARD_1515 Contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch Orphanet:1484 semapv:UnspecifiedMatching +obo:GARD_1515 Contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:narrowMatch OMIM:301815 semapv:UnspecifiedMatching +obo:GARD_15150 Cerebrooculofacioskeletal syndrome 1 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +obo:GARD_15150 Cerebrooculofacioskeletal syndrome 1 skos:exactMatch OMIM:214150 semapv:UnspecifiedMatching +obo:GARD_15151 Klippel-feil syndrome 2, autosomal recessive skos:broadMatch Orphanet:2345 semapv:UnspecifiedMatching +obo:GARD_15151 Klippel-feil syndrome 2, autosomal recessive skos:exactMatch OMIM:214300 semapv:UnspecifiedMatching +obo:GARD_15152 Chorea, benign familial skos:broadMatch Orphanet:1429 semapv:UnspecifiedMatching +obo:GARD_15152 Chorea, benign familial skos:exactMatch OMIM:215450 semapv:UnspecifiedMatching +obo:GARD_15153 Coach syndrome 1 skos:broadMatch Orphanet:1454 semapv:UnspecifiedMatching +obo:GARD_15153 Coach syndrome 1 skos:exactMatch OMIM:216360 semapv:UnspecifiedMatching +obo:GARD_15154 Cockayne syndrome a skos:broadMatch Orphanet:90321 semapv:UnspecifiedMatching +obo:GARD_15154 Cockayne syndrome a skos:broadMatch Orphanet:90322 semapv:UnspecifiedMatching +obo:GARD_15154 Cockayne syndrome a skos:broadMatch Orphanet:90324 semapv:UnspecifiedMatching +obo:GARD_15154 Cockayne syndrome a skos:exactMatch OMIM:216400 semapv:UnspecifiedMatching +obo:GARD_15155 Complement component c1r/c1s deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_15155 Complement component c1r/c1s deficiency skos:exactMatch OMIM:216950 semapv:UnspecifiedMatching +obo:GARD_15156 Craniodiaphyseal dysplasia skos:broadMatch Orphanet:1513 semapv:UnspecifiedMatching +obo:GARD_15156 Craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 semapv:UnspecifiedMatching +obo:GARD_15157 Cutis laxa, autosomal recessive, type ia skos:broadMatch Orphanet:90349 semapv:UnspecifiedMatching +obo:GARD_15157 Cutis laxa, autosomal recessive, type ia skos:exactMatch OMIM:219100 semapv:UnspecifiedMatching +obo:GARD_15158 Mitochondrial complex iv deficiency, nuclear type 1 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_15158 Mitochondrial complex iv deficiency, nuclear type 1 skos:exactMatch OMIM:220110 semapv:UnspecifiedMatching +obo:GARD_15159 Mitochondrial complex iv deficiency, nuclear type 5 skos:broadMatch Orphanet:70472 semapv:UnspecifiedMatching +obo:GARD_15159 Mitochondrial complex iv deficiency, nuclear type 5 skos:exactMatch OMIM:220111 semapv:UnspecifiedMatching +obo:GARD_1516 Restrictive dermopathy skos:exactMatch Orphanet:1662 semapv:UnspecifiedMatching +obo:GARD_1516 Restrictive dermopathy skos:narrowMatch OMIM:275210 semapv:UnspecifiedMatching +obo:GARD_15160 Ritscher-schinzel syndrome 1 skos:broadMatch Orphanet:7 semapv:UnspecifiedMatching +obo:GARD_15160 Ritscher-schinzel syndrome 1 skos:exactMatch OMIM:220210 semapv:UnspecifiedMatching +obo:GARD_15161 Diaphragmatic hernia 2 skos:broadMatch Orphanet:2140 semapv:UnspecifiedMatching +obo:GARD_15161 Diaphragmatic hernia 2 skos:exactMatch OMIM:222400 semapv:UnspecifiedMatching +obo:GARD_15162 Meier-gorlin syndrome 1 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_15162 Meier-gorlin syndrome 1 skos:exactMatch OMIM:224690 semapv:UnspecifiedMatching +obo:GARD_15163 Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive skos:broadMatch Orphanet:248 semapv:UnspecifiedMatching +obo:GARD_15163 Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:224900 semapv:UnspecifiedMatching +obo:GARD_15164 Ectopia lentis et pupillae skos:broadMatch Orphanet:1885 semapv:UnspecifiedMatching +obo:GARD_15164 Ectopia lentis et pupillae skos:exactMatch OMIM:225200 semapv:UnspecifiedMatching +obo:GARD_15165 Hypothyroidism, congenital, nongoitrous, 5 skos:broadMatch Orphanet:95712 semapv:UnspecifiedMatching +obo:GARD_15165 Hypothyroidism, congenital, nongoitrous, 5 skos:broadMatch Orphanet:95713 semapv:UnspecifiedMatching +obo:GARD_15165 Hypothyroidism, congenital, nongoitrous, 5 skos:broadMatch Orphanet:95720 semapv:UnspecifiedMatching +obo:GARD_15165 Hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch OMIM:225250 semapv:UnspecifiedMatching +obo:GARD_15166 Split-hand/foot malformation 6 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +obo:GARD_15166 Split-hand/foot malformation 6 skos:exactMatch OMIM:225300 semapv:UnspecifiedMatching +obo:GARD_15167 Aicardi-goutieres syndrome 1 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_15167 Aicardi-goutieres syndrome 1 skos:exactMatch OMIM:225750 semapv:UnspecifiedMatching +obo:GARD_15168 Fanconi anemia, complementation group c skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15168 Fanconi anemia, complementation group c skos:exactMatch OMIM:227645 semapv:UnspecifiedMatching +obo:GARD_15169 Fanconi anemia, complementation group d2 skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15169 Fanconi anemia, complementation group d2 skos:exactMatch OMIM:227646 semapv:UnspecifiedMatching +obo:GARD_15170 Fanconi anemia, complementation group a skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15170 Fanconi anemia, complementation group a skos:exactMatch OMIM:227650 semapv:UnspecifiedMatching +obo:GARD_15171 Fascial dystrophy, congenital skos:broadMatch Orphanet:2833 semapv:UnspecifiedMatching +obo:GARD_15171 Fascial dystrophy, congenital skos:exactMatch OMIM:228020 semapv:UnspecifiedMatching +obo:GARD_15172 Geleophysic dysplasia 1 skos:broadMatch Orphanet:2623 semapv:UnspecifiedMatching +obo:GARD_15172 Geleophysic dysplasia 1 skos:exactMatch OMIM:231050 semapv:UnspecifiedMatching +obo:GARD_15173 Glycogen storage disease ic skos:broadMatch Orphanet:79259 semapv:UnspecifiedMatching +obo:GARD_15173 Glycogen storage disease ic skos:exactMatch OMIM:232240 semapv:UnspecifiedMatching +obo:GARD_15174 46,xy sex reversal 7 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_15174 46,xy sex reversal 7 skos:exactMatch OMIM:233420 semapv:UnspecifiedMatching +obo:GARD_15175 Granulomatous disease, chronic, autosomal recessive, 4 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_15175 Granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch OMIM:233690 semapv:UnspecifiedMatching +obo:GARD_15176 Granulomatous disease, chronic, autosomal recessive, 1 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_15176 Granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch OMIM:233700 semapv:UnspecifiedMatching +obo:GARD_15177 Granulomatous disease, chronic, autosomal recessive, 2 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_15177 Granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch OMIM:233710 semapv:UnspecifiedMatching +obo:GARD_15179 Hemolytic anemia with thermal sensitivity of red cells skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +obo:GARD_15179 Hemolytic anemia with thermal sensitivity of red cells skos:exactMatch OMIM:235370 semapv:UnspecifiedMatching +obo:GARD_1518 Benign familial neonatal-infantile seizures skos:exactMatch Orphanet:140927 semapv:UnspecifiedMatching +obo:GARD_1518 Benign familial neonatal-infantile seizures skos:narrowMatch OMIM:607745 semapv:UnspecifiedMatching +obo:GARD_15180 Hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:broadMatch Orphanet:99931 semapv:UnspecifiedMatching +obo:GARD_15180 Hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:exactMatch OMIM:235500 semapv:UnspecifiedMatching +obo:GARD_15181 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:broadMatch Orphanet:2136 semapv:UnspecifiedMatching +obo:GARD_15181 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch OMIM:235510 semapv:UnspecifiedMatching +obo:GARD_15182 Hydrolethalus syndrome 1 skos:broadMatch Orphanet:2189 semapv:UnspecifiedMatching +obo:GARD_15182 Hydrolethalus syndrome 1 skos:exactMatch OMIM:236680 semapv:UnspecifiedMatching +obo:GARD_15183 Hyperlysinemia due to defect in lysine transport into mitochondria skos:broadMatch Orphanet:2203 semapv:UnspecifiedMatching +obo:GARD_15183 Hyperlysinemia due to defect in lysine transport into mitochondria skos:exactMatch OMIM:238710 semapv:UnspecifiedMatching +obo:GARD_15184 Immunodeficiency, common variable, 2 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15184 Immunodeficiency, common variable, 2 skos:exactMatch OMIM:240500 semapv:UnspecifiedMatching +obo:GARD_15185 Immunodeficiency 43 skos:broadMatch Orphanet:34592 semapv:UnspecifiedMatching +obo:GARD_15185 Immunodeficiency 43 skos:exactMatch OMIM:241600 semapv:UnspecifiedMatching +obo:GARD_15186 Hypouricemia, hypercalcinuria, and decreased bone density skos:broadMatch Orphanet:94088 semapv:UnspecifiedMatching +obo:GARD_15186 Hypouricemia, hypercalcinuria, and decreased bone density skos:exactMatch OMIM:242050 semapv:UnspecifiedMatching +obo:GARD_15187 Ichthyosis, congenital, autosomal recessive 2 skos:broadMatch Orphanet:281122 semapv:UnspecifiedMatching +obo:GARD_15187 Ichthyosis, congenital, autosomal recessive 2 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_15187 Ichthyosis, congenital, autosomal recessive 2 skos:exactMatch OMIM:242100 semapv:UnspecifiedMatching +obo:GARD_15188 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +obo:GARD_15188 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch OMIM:242860 semapv:UnspecifiedMatching +obo:GARD_15189 Baraitser-winter syndrome 1 skos:broadMatch Orphanet:2995 semapv:UnspecifiedMatching +obo:GARD_15189 Baraitser-winter syndrome 1 skos:exactMatch OMIM:243310 semapv:UnspecifiedMatching +obo:GARD_1519 Benign familial neonatal epilepsy skos:exactMatch Orphanet:1949 semapv:UnspecifiedMatching +obo:GARD_1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:121200 semapv:UnspecifiedMatching +obo:GARD_1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:121201 semapv:UnspecifiedMatching +obo:GARD_1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:269720 semapv:UnspecifiedMatching +obo:GARD_1519 Benign familial neonatal epilepsy skos:narrowMatch OMIM:608217 semapv:UnspecifiedMatching +obo:GARD_15190 Intrinsic factor and r binder, combined congenital deficiency of skos:broadMatch Orphanet:332 semapv:UnspecifiedMatching +obo:GARD_15190 Intrinsic factor and r binder, combined congenital deficiency of skos:exactMatch OMIM:243320 semapv:UnspecifiedMatching +obo:GARD_15191 Kuru, susceptibility to skos:broadMatch Orphanet:454745 semapv:UnspecifiedMatching +obo:GARD_15191 Kuru, susceptibility to skos:exactMatch OMIM:245300 semapv:UnspecifiedMatching +obo:GARD_15192 Leprosy, susceptibility to, 3 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +obo:GARD_15192 Leprosy, susceptibility to, 3 skos:exactMatch OMIM:246300 semapv:UnspecifiedMatching +obo:GARD_15193 Split-hand/foot malformation 3 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +obo:GARD_15193 Split-hand/foot malformation 3 skos:exactMatch OMIM:246560 semapv:UnspecifiedMatching +obo:GARD_15194 Lymphokine deficiency skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15194 Lymphokine deficiency skos:exactMatch OMIM:247650 semapv:UnspecifiedMatching +obo:GARD_15195 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:broadMatch Orphanet:2241 semapv:UnspecifiedMatching +obo:GARD_15195 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch OMIM:249210 semapv:UnspecifiedMatching +obo:GARD_15196 Methemoglobinemia and ambiguous genitalia skos:broadMatch Orphanet:621 semapv:UnspecifiedMatching +obo:GARD_15196 Methemoglobinemia and ambiguous genitalia skos:exactMatch OMIM:250790 semapv:UnspecifiedMatching +obo:GARD_15197 Methemoglobinemia due to deficiency of methemoglobin reductase skos:broadMatch Orphanet:621 semapv:UnspecifiedMatching +obo:GARD_15197 Methemoglobinemia due to deficiency of methemoglobin reductase skos:exactMatch OMIM:250800 semapv:UnspecifiedMatching +obo:GARD_15198 Microcephaly 1, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15198 Microcephaly 1, primary, autosomal recessive skos:exactMatch OMIM:251200 semapv:UnspecifiedMatching +obo:GARD_15199 Galloway-mowat syndrome 1 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_15199 Galloway-mowat syndrome 1 skos:exactMatch OMIM:251300 semapv:UnspecifiedMatching +obo:GARD_15200 Microphthalmia, isolated, with coloboma 4 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15200 Microphthalmia, isolated, with coloboma 4 skos:exactMatch OMIM:251505 semapv:UnspecifiedMatching +obo:GARD_15201 Mitochondrial complex i deficiency, nuclear type 1 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_15201 Mitochondrial complex i deficiency, nuclear type 1 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_15201 Mitochondrial complex i deficiency, nuclear type 1 skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching +obo:GARD_15202 Mitochondrial complex ii deficiency, nuclear type 1 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +obo:GARD_15202 Mitochondrial complex ii deficiency, nuclear type 1 skos:exactMatch OMIM:252011 semapv:UnspecifiedMatching +obo:GARD_15203 Monocyte chemotactic disorder skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15203 Monocyte chemotactic disorder skos:exactMatch OMIM:252250 semapv:UnspecifiedMatching +obo:GARD_15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15204 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 skos:exactMatch OMIM:253280 semapv:UnspecifiedMatching +obo:GARD_15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15205 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 skos:exactMatch OMIM:253800 semapv:UnspecifiedMatching +obo:GARD_15206 Myasthenic syndrome, congenital, 10 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15206 Myasthenic syndrome, congenital, 10 skos:exactMatch OMIM:254300 semapv:UnspecifiedMatching +obo:GARD_15207 Myopathy, myosin storage, autosomal recessive skos:broadMatch Orphanet:53698 semapv:UnspecifiedMatching +obo:GARD_15207 Myopathy, myosin storage, autosomal recessive skos:exactMatch OMIM:255160 semapv:UnspecifiedMatching +obo:GARD_15208 Myopathy, centronuclear, 2 skos:broadMatch Orphanet:169186 semapv:UnspecifiedMatching +obo:GARD_15208 Myopathy, centronuclear, 2 skos:exactMatch OMIM:255200 semapv:UnspecifiedMatching +obo:GARD_15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +obo:GARD_15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +obo:GARD_15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_15209 Nemaline myopathy 2 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_15209 Nemaline myopathy 2 skos:exactMatch OMIM:256030 semapv:UnspecifiedMatching +obo:GARD_1521 Menkes disease skos:exactMatch Orphanet:565 semapv:UnspecifiedMatching +obo:GARD_1521 Menkes disease skos:narrowMatch OMIM:309400 semapv:UnspecifiedMatching +obo:GARD_15210 Nephrotic syndrome, type 4 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15210 Nephrotic syndrome, type 4 skos:exactMatch OMIM:256370 semapv:UnspecifiedMatching +obo:GARD_15211 Neuroblastoma, susceptibility to, 1 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_15211 Neuroblastoma, susceptibility to, 1 skos:exactMatch OMIM:256700 semapv:UnspecifiedMatching +obo:GARD_15212 Night blindness, congenital stationary, type 1b skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15212 Night blindness, congenital stationary, type 1b skos:exactMatch OMIM:257270 semapv:UnspecifiedMatching +obo:GARD_15213 Oculodentodigital dysplasia, autosomal recessive skos:broadMatch Orphanet:2710 semapv:UnspecifiedMatching +obo:GARD_15213 Oculodentodigital dysplasia, autosomal recessive skos:exactMatch OMIM:257850 semapv:UnspecifiedMatching +obo:GARD_15214 Spermatogenic failure 1 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15214 Spermatogenic failure 1 skos:exactMatch OMIM:258150 semapv:UnspecifiedMatching +obo:GARD_15215 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 skos:broadMatch Orphanet:254886 semapv:UnspecifiedMatching +obo:GARD_15215 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 skos:exactMatch OMIM:258450 semapv:UnspecifiedMatching +obo:GARD_15216 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:broadMatch Orphanet:2796 semapv:UnspecifiedMatching +obo:GARD_15216 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch OMIM:259100 semapv:UnspecifiedMatching +obo:GARD_15217 Blount disease, adolescent skos:broadMatch Orphanet:2768 semapv:UnspecifiedMatching +obo:GARD_15217 Blount disease, adolescent skos:exactMatch OMIM:259200 semapv:UnspecifiedMatching +obo:GARD_15218 Osteoporosis, juvenile skos:broadMatch Orphanet:85193 semapv:UnspecifiedMatching +obo:GARD_15218 Osteoporosis, juvenile skos:exactMatch OMIM:259750 semapv:UnspecifiedMatching +obo:GARD_15219 Pachyonychia congenita, autosomal recessive skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +obo:GARD_15219 Pachyonychia congenita, autosomal recessive skos:exactMatch OMIM:260130 semapv:UnspecifiedMatching +obo:GARD_1522 Familial benign copper deficiency skos:exactMatch Orphanet:1551 semapv:UnspecifiedMatching +obo:GARD_1522 Familial benign copper deficiency skos:narrowMatch OMIM:121270 semapv:UnspecifiedMatching +obo:GARD_15220 Pancreatic agenesis 1 skos:broadMatch Orphanet:2805 semapv:UnspecifiedMatching +obo:GARD_15220 Pancreatic agenesis 1 skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching +obo:GARD_15221 Shwachman-diamond syndrome 1 skos:broadMatch Orphanet:811 semapv:UnspecifiedMatching +obo:GARD_15221 Shwachman-diamond syndrome 1 skos:exactMatch OMIM:260400 semapv:UnspecifiedMatching +obo:GARD_15222 Pituitary hormone deficiency, combined, 2 skos:broadMatch Orphanet:90695 semapv:UnspecifiedMatching +obo:GARD_15222 Pituitary hormone deficiency, combined, 2 skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +obo:GARD_15222 Pituitary hormone deficiency, combined, 2 skos:exactMatch OMIM:262600 semapv:UnspecifiedMatching +obo:GARD_15223 Gillessen-kaesbach-nishimura syndrome skos:broadMatch Orphanet:79328 semapv:UnspecifiedMatching +obo:GARD_15223 Gillessen-kaesbach-nishimura syndrome skos:exactMatch OMIM:263210 semapv:UnspecifiedMatching +obo:GARD_15224 Short-rib thoracic dysplasia 6 with or without polydactyly skos:broadMatch Orphanet:93269 semapv:UnspecifiedMatching +obo:GARD_15224 Short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch OMIM:263520 semapv:UnspecifiedMatching +obo:GARD_15225 Prenatal bowing skos:broadMatch Orphanet:2292 semapv:UnspecifiedMatching +obo:GARD_15225 Prenatal bowing skos:exactMatch OMIM:264050 semapv:UnspecifiedMatching +obo:GARD_15226 Peroxisome biogenesis disorder 3b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15226 Peroxisome biogenesis disorder 3b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15226 Peroxisome biogenesis disorder 3b skos:exactMatch OMIM:266510 semapv:UnspecifiedMatching +obo:GARD_15227 Short-rib thoracic dysplasia 9 with or without polydactyly skos:broadMatch Orphanet:140969 semapv:UnspecifiedMatching +obo:GARD_15227 Short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch OMIM:266920 semapv:UnspecifiedMatching +obo:GARD_15228 Renal tubular acidosis iii skos:broadMatch Orphanet:2785 semapv:UnspecifiedMatching +obo:GARD_15228 Renal tubular acidosis iii skos:exactMatch OMIM:267200 semapv:UnspecifiedMatching +obo:GARD_15229 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:broadMatch Orphanet:402041 semapv:UnspecifiedMatching +obo:GARD_15229 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch OMIM:267300 semapv:UnspecifiedMatching +obo:GARD_15230 Retinitis pigmentosa, late-adult onset skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15230 Retinitis pigmentosa, late-adult onset skos:exactMatch OMIM:268025 semapv:UnspecifiedMatching +obo:GARD_15231 Retinopathy, pericentral pigmentary, autosomal recessive skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15231 Retinopathy, pericentral pigmentary, autosomal recessive skos:exactMatch OMIM:268060 semapv:UnspecifiedMatching +obo:GARD_15232 Rheumatic fever-related antigen skos:broadMatch Orphanet:3099 semapv:UnspecifiedMatching +obo:GARD_15232 Rheumatic fever-related antigen skos:exactMatch OMIM:268240 semapv:UnspecifiedMatching +obo:GARD_15233 Sclerosteosis 1 skos:broadMatch Orphanet:3152 semapv:UnspecifiedMatching +obo:GARD_15233 Sclerosteosis 1 skos:exactMatch OMIM:269500 semapv:UnspecifiedMatching +obo:GARD_15234 Seizures, benign familial neonatal, autosomal recessive skos:broadMatch Orphanet:1949 semapv:UnspecifiedMatching +obo:GARD_15234 Seizures, benign familial neonatal, autosomal recessive skos:exactMatch OMIM:269720 semapv:UnspecifiedMatching +obo:GARD_15235 Spermatogenic failure 4 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15235 Spermatogenic failure 4 skos:exactMatch OMIM:270960 semapv:UnspecifiedMatching +obo:GARD_15236 Spherocytosis, type 3 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +obo:GARD_15236 Spherocytosis, type 3 skos:exactMatch OMIM:270970 semapv:UnspecifiedMatching +obo:GARD_15237 Spondyloepiphyseal dysplasia tarda, autosomal recessive skos:broadMatch Orphanet:93284 semapv:UnspecifiedMatching +obo:GARD_15237 Spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch OMIM:271600 semapv:UnspecifiedMatching +obo:GARD_15238 Tetraamelia syndrome 1 skos:broadMatch Orphanet:3301 semapv:UnspecifiedMatching +obo:GARD_15238 Tetraamelia syndrome 1 skos:exactMatch OMIM:273395 semapv:UnspecifiedMatching +obo:GARD_15239 Three m syndrome 1 skos:broadMatch Orphanet:2616 semapv:UnspecifiedMatching +obo:GARD_15239 Three m syndrome 1 skos:exactMatch OMIM:273750 semapv:UnspecifiedMatching +obo:GARD_15240 Glanzmann thrombasthenia 1 skos:broadMatch Orphanet:849 semapv:UnspecifiedMatching +obo:GARD_15240 Glanzmann thrombasthenia 1 skos:exactMatch OMIM:273800 semapv:UnspecifiedMatching +obo:GARD_15241 Usher syndrome, type iia skos:broadMatch Orphanet:231178 semapv:UnspecifiedMatching +obo:GARD_15241 Usher syndrome, type iia skos:exactMatch OMIM:276901 semapv:UnspecifiedMatching +obo:GARD_15242 Usher syndrome, type iiia skos:broadMatch Orphanet:231183 semapv:UnspecifiedMatching +obo:GARD_15242 Usher syndrome, type iiia skos:exactMatch OMIM:276902 semapv:UnspecifiedMatching +obo:GARD_15243 Vas deferens, congenital bilateral aplasia of skos:broadMatch Orphanet:48 semapv:UnspecifiedMatching +obo:GARD_15243 Vas deferens, congenital bilateral aplasia of skos:exactMatch OMIM:277180 semapv:UnspecifiedMatching +obo:GARD_15244 Pontocerebellar hypoplasia, type 2a skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +obo:GARD_15244 Pontocerebellar hypoplasia, type 2a skos:exactMatch OMIM:277470 semapv:UnspecifiedMatching +obo:GARD_15245 Waardenburg syndrome, type 4a skos:broadMatch Orphanet:897 semapv:UnspecifiedMatching +obo:GARD_15245 Waardenburg syndrome, type 4a skos:exactMatch OMIM:277580 semapv:UnspecifiedMatching +obo:GARD_15246 Weill-marchesani syndrome 1 skos:broadMatch Orphanet:3449 semapv:UnspecifiedMatching +obo:GARD_15246 Weill-marchesani syndrome 1 skos:exactMatch OMIM:277600 semapv:UnspecifiedMatching +obo:GARD_15247 Hypotrichosis 8 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +obo:GARD_15247 Hypotrichosis 8 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_15247 Hypotrichosis 8 skos:exactMatch OMIM:278150 semapv:UnspecifiedMatching +obo:GARD_15248 Myopathy due to myoadenylate deaminase deficiency skos:broadMatch Orphanet:45 semapv:UnspecifiedMatching +obo:GARD_15248 Myopathy due to myoadenylate deaminase deficiency skos:exactMatch OMIM:615511 semapv:UnspecifiedMatching +obo:GARD_15249 46,xx sex reversal 2 skos:broadMatch Orphanet:393 semapv:UnspecifiedMatching +obo:GARD_15249 46,xx sex reversal 2 skos:exactMatch OMIM:278850 semapv:UnspecifiedMatching +obo:GARD_1525 Spinocerebellar degeneration-corneal dystrophy syndrome skos:exactMatch Orphanet:3177 semapv:UnspecifiedMatching +obo:GARD_1525 Spinocerebellar degeneration-corneal dystrophy syndrome skos:narrowMatch OMIM:271310 semapv:UnspecifiedMatching +obo:GARD_15250 Ichthyosis, x-linked, without steroid sulfatase deficiency skos:broadMatch Orphanet:461 semapv:UnspecifiedMatching +obo:GARD_15250 Ichthyosis, x-linked, without steroid sulfatase deficiency skos:exactMatch OMIM:300001 semapv:UnspecifiedMatching +obo:GARD_15251 Night blindness, congenital stationary, type 2a skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15251 Night blindness, congenital stationary, type 2a skos:exactMatch OMIM:300071 semapv:UnspecifiedMatching +obo:GARD_15253 Prostate cancer, hereditary, x-linked 1 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15253 Prostate cancer, hereditary, x-linked 1 skos:exactMatch OMIM:300147 semapv:UnspecifiedMatching +obo:GARD_15254 Intellectual developmental disorder, x-linked, syndromic, lubs type skos:broadMatch Orphanet:1762 semapv:UnspecifiedMatching +obo:GARD_15254 Intellectual developmental disorder, x-linked, syndromic, lubs type skos:exactMatch OMIM:300260 semapv:UnspecifiedMatching +obo:GARD_15255 Progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:172 semapv:UnspecifiedMatching +obo:GARD_15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:211600 semapv:UnspecifiedMatching +obo:GARD_15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:601847 semapv:UnspecifiedMatching +obo:GARD_15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:602347 semapv:UnspecifiedMatching +obo:GARD_15255 Progressive familial intrahepatic cholestasis skos:narrowMatch OMIM:615878 semapv:UnspecifiedMatching +obo:GARD_15256 Polymicrogyria, bilateral perisylvian, x-linked skos:broadMatch Orphanet:98889 semapv:UnspecifiedMatching +obo:GARD_15256 Polymicrogyria, bilateral perisylvian, x-linked skos:exactMatch OMIM:300388 semapv:UnspecifiedMatching +obo:GARD_15257 Fanconi anemia, complementation group b skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15257 Fanconi anemia, complementation group b skos:exactMatch OMIM:300514 semapv:UnspecifiedMatching +obo:GARD_15258 Myopathy, congenital, with fiber-type disproportion, x-linked skos:broadMatch Orphanet:2020 semapv:UnspecifiedMatching +obo:GARD_15258 Myopathy, congenital, with fiber-type disproportion, x-linked skos:exactMatch OMIM:300580 semapv:UnspecifiedMatching +obo:GARD_15259 Cornelia de lange syndrome 2 skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +obo:GARD_15259 Cornelia de lange syndrome 2 skos:exactMatch OMIM:300590 semapv:UnspecifiedMatching +obo:GARD_15260 Prostate cancer, hereditary, x-linked 2 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15260 Prostate cancer, hereditary, x-linked 2 skos:exactMatch OMIM:300704 semapv:UnspecifiedMatching +obo:GARD_15261 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset skos:broadMatch Orphanet:97239 semapv:UnspecifiedMatching +obo:GARD_15261 Reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset skos:exactMatch OMIM:300717 semapv:UnspecifiedMatching +obo:GARD_15262 Reducing body myopathy, x-linked 1b, with late childhood or adult onset skos:broadMatch Orphanet:97239 semapv:UnspecifiedMatching +obo:GARD_15262 Reducing body myopathy, x-linked 1b, with late childhood or adult onset skos:exactMatch OMIM:300718 semapv:UnspecifiedMatching +obo:GARD_15263 Surfactant metabolism dysfunction, pulmonary, 4 skos:broadMatch Orphanet:264675 semapv:UnspecifiedMatching +obo:GARD_15263 Surfactant metabolism dysfunction, pulmonary, 4 skos:exactMatch OMIM:300770 semapv:UnspecifiedMatching +obo:GARD_15264 Intellectual developmental disorder, x-linked, syndromic, raymond type skos:broadMatch Orphanet:776 semapv:UnspecifiedMatching +obo:GARD_15264 Intellectual developmental disorder, x-linked, syndromic, raymond type skos:exactMatch OMIM:300799 semapv:UnspecifiedMatching +obo:GARD_15265 Joubert syndrome 10 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +obo:GARD_15265 Joubert syndrome 10 skos:exactMatch OMIM:300804 semapv:UnspecifiedMatching +obo:GARD_15266 Chromosome xq28 duplication syndrome skos:broadMatch Orphanet:1762 semapv:UnspecifiedMatching +obo:GARD_15266 Chromosome xq28 duplication syndrome skos:exactMatch OMIM:300815 semapv:UnspecifiedMatching +obo:GARD_15267 46,xx sex reversal 3 skos:broadMatch Orphanet:393 semapv:UnspecifiedMatching +obo:GARD_15267 46,xx sex reversal 3 skos:exactMatch OMIM:300833 semapv:UnspecifiedMatching +obo:GARD_15268 Macular degeneration, x-linked atrophic skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15268 Macular degeneration, x-linked atrophic skos:exactMatch OMIM:300834 semapv:UnspecifiedMatching +obo:GARD_15269 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15269 Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia skos:exactMatch OMIM:300857 semapv:UnspecifiedMatching +obo:GARD_15270 Kabuki syndrome 2 skos:broadMatch Orphanet:2322 semapv:UnspecifiedMatching +obo:GARD_15270 Kabuki syndrome 2 skos:exactMatch OMIM:300867 semapv:UnspecifiedMatching +obo:GARD_15271 Cornelia de lange syndrome 5 skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +obo:GARD_15271 Cornelia de lange syndrome 5 skos:exactMatch OMIM:300882 semapv:UnspecifiedMatching +obo:GARD_15272 Linear skin defects with multiple congenital anomalies 2 skos:broadMatch Orphanet:2556 semapv:UnspecifiedMatching +obo:GARD_15272 Linear skin defects with multiple congenital anomalies 2 skos:exactMatch OMIM:300887 semapv:UnspecifiedMatching +obo:GARD_15273 Olmsted syndrome, x-linked skos:broadMatch Orphanet:659 semapv:UnspecifiedMatching +obo:GARD_15273 Olmsted syndrome, x-linked skos:exactMatch OMIM:300918 semapv:UnspecifiedMatching +obo:GARD_15274 Pituitary adenoma 2, growth hormone-secreting skos:broadMatch Orphanet:963 semapv:UnspecifiedMatching +obo:GARD_15274 Pituitary adenoma 2, growth hormone-secreting skos:exactMatch OMIM:300943 semapv:UnspecifiedMatching +obo:GARD_15275 Diamond-blackfan anemia 14 with mandibulofacial dysostosis skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15275 Diamond-blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 semapv:UnspecifiedMatching +obo:GARD_15276 Linear skin defects with multiple congenital anomalies 3 skos:broadMatch Orphanet:2556 semapv:UnspecifiedMatching +obo:GARD_15276 Linear skin defects with multiple congenital anomalies 3 skos:exactMatch OMIM:300952 semapv:UnspecifiedMatching +obo:GARD_15277 Trichothiodystrophy 5, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_15277 Trichothiodystrophy 5, nonphotosensitive skos:exactMatch OMIM:300953 semapv:UnspecifiedMatching +obo:GARD_15278 Ritscher-schinzel syndrome 2 skos:broadMatch Orphanet:7 semapv:UnspecifiedMatching +obo:GARD_15278 Ritscher-schinzel syndrome 2 skos:exactMatch OMIM:300963 semapv:UnspecifiedMatching +obo:GARD_15279 Vas deferens, congenital bilateral aplasia of, x-linked skos:broadMatch Orphanet:48 semapv:UnspecifiedMatching +obo:GARD_15279 Vas deferens, congenital bilateral aplasia of, x-linked skos:exactMatch OMIM:300985 semapv:UnspecifiedMatching +obo:GARD_15280 Ciliary dyskinesia, primary, 36, x-linked skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15280 Ciliary dyskinesia, primary, 36, x-linked skos:exactMatch OMIM:300991 semapv:UnspecifiedMatching +obo:GARD_15281 Galloway-mowat syndrome 2, x-linked skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_15281 Galloway-mowat syndrome 2, x-linked skos:exactMatch OMIM:301006 semapv:UnspecifiedMatching +obo:GARD_15282 Intellectual developmental disorder, x-linked, syndromic, houge type skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_15282 Intellectual developmental disorder, x-linked, syndromic, houge type skos:exactMatch OMIM:301008 semapv:UnspecifiedMatching +obo:GARD_15283 Mitochondrial complex i deficiency, nuclear type 12 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_15283 Mitochondrial complex i deficiency, nuclear type 12 skos:exactMatch OMIM:301020 semapv:UnspecifiedMatching +obo:GARD_15284 Mitochondrial complex i deficiency, nuclear type 30 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_15284 Mitochondrial complex i deficiency, nuclear type 30 skos:exactMatch OMIM:301021 semapv:UnspecifiedMatching +obo:GARD_15285 Nephrotic syndrome, type 20 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15285 Nephrotic syndrome, type 20 skos:exactMatch OMIM:301028 semapv:UnspecifiedMatching +obo:GARD_15286 Developmental and epileptic encephalopathy 90 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_15286 Developmental and epileptic encephalopathy 90 skos:exactMatch OMIM:301058 semapv:UnspecifiedMatching +obo:GARD_15287 Cardiomyopathy, dilated, 3b skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15287 Cardiomyopathy, dilated, 3b skos:exactMatch OMIM:302045 semapv:UnspecifiedMatching +obo:GARD_15289 Diabetes insipidus, nephrogenic, 1, x-linked skos:broadMatch Orphanet:223 semapv:UnspecifiedMatching +obo:GARD_15289 Diabetes insipidus, nephrogenic, 1, x-linked skos:exactMatch OMIM:304800 semapv:UnspecifiedMatching +obo:GARD_1529 Corneal dystrophy-perceptive deafness syndrome skos:exactMatch Orphanet:1490 semapv:UnspecifiedMatching +obo:GARD_1529 Corneal dystrophy-perceptive deafness syndrome skos:narrowMatch OMIM:217400 semapv:UnspecifiedMatching +obo:GARD_15290 Dyggve-melchior-clausen syndrome, x-linked skos:broadMatch Orphanet:239 semapv:UnspecifiedMatching +obo:GARD_15290 Dyggve-melchior-clausen syndrome, x-linked skos:exactMatch OMIM:304950 semapv:UnspecifiedMatching +obo:GARD_15291 Epidermodysplasia verruciformis, x-linked skos:broadMatch Orphanet:302 semapv:UnspecifiedMatching +obo:GARD_15291 Epidermodysplasia verruciformis, x-linked skos:exactMatch OMIM:305350 semapv:UnspecifiedMatching +obo:GARD_15292 Exudative vitreoretinopathy 2, x-linked skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_15292 Exudative vitreoretinopathy 2, x-linked skos:exactMatch OMIM:305390 semapv:UnspecifiedMatching +obo:GARD_15293 Frontometaphyseal dysplasia 1 skos:broadMatch Orphanet:1826 semapv:UnspecifiedMatching +obo:GARD_15293 Frontometaphyseal dysplasia 1 skos:exactMatch OMIM:305620 semapv:UnspecifiedMatching +obo:GARD_15294 Granulomatous disease, chronic, x-linked skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_15294 Granulomatous disease, chronic, x-linked skos:exactMatch OMIM:306400 semapv:UnspecifiedMatching +obo:GARD_15295 Hernia, anterior diaphragmatic skos:broadMatch Orphanet:2140 semapv:UnspecifiedMatching +obo:GARD_15295 Hernia, anterior diaphragmatic skos:exactMatch OMIM:306950 semapv:UnspecifiedMatching +obo:GARD_15296 Hypouricemia, familial renal, due to tubular hypersecretion skos:broadMatch Orphanet:94088 semapv:UnspecifiedMatching +obo:GARD_15296 Hypouricemia, familial renal, due to tubular hypersecretion skos:exactMatch OMIM:307830 semapv:UnspecifiedMatching +obo:GARD_15297 Ifap syndrome 1, with or without bresheck syndrome skos:broadMatch Orphanet:2273 semapv:UnspecifiedMatching +obo:GARD_15297 Ifap syndrome 1, with or without bresheck syndrome skos:exactMatch OMIM:308205 semapv:UnspecifiedMatching +obo:GARD_15298 Developmental and epileptic encephalopathy 1 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_15298 Developmental and epileptic encephalopathy 1 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_15298 Developmental and epileptic encephalopathy 1 skos:exactMatch OMIM:308350 semapv:UnspecifiedMatching +obo:GARD_15299 Keratosis follicularis spinulosa decalvans, x-linked skos:broadMatch Orphanet:2340 semapv:UnspecifiedMatching +obo:GARD_15299 Keratosis follicularis spinulosa decalvans, x-linked skos:exactMatch OMIM:308800 semapv:UnspecifiedMatching +obo:GARD_15300 Leber hereditary optic neuropathy, modifier of skos:broadMatch Orphanet:104 semapv:UnspecifiedMatching +obo:GARD_15300 Leber hereditary optic neuropathy, modifier of skos:exactMatch OMIM:308905 semapv:UnspecifiedMatching +obo:GARD_15301 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:broadMatch Orphanet:93622 semapv:UnspecifiedMatching +obo:GARD_15301 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:exactMatch OMIM:308990 semapv:UnspecifiedMatching +obo:GARD_15302 Spermatogenic failure, x-linked, 2 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15302 Spermatogenic failure, x-linked, 2 skos:exactMatch OMIM:309120 semapv:UnspecifiedMatching +obo:GARD_15304 Microphthalmia, syndromic 1 skos:broadMatch Orphanet:568 semapv:UnspecifiedMatching +obo:GARD_15304 Microphthalmia, syndromic 1 skos:exactMatch OMIM:309800 semapv:UnspecifiedMatching +obo:GARD_15305 Nephrolithiasis, x-linked recessive, with renal failure skos:broadMatch Orphanet:93622 semapv:UnspecifiedMatching +obo:GARD_15305 Nephrolithiasis, x-linked recessive, with renal failure skos:exactMatch OMIM:310468 semapv:UnspecifiedMatching +obo:GARD_15306 Night blindness, congenital stationary, type 1a skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15306 Night blindness, congenital stationary, type 1a skos:exactMatch OMIM:310500 semapv:UnspecifiedMatching +obo:GARD_15308 Split-hand/foot malformation 2 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +obo:GARD_15308 Split-hand/foot malformation 2 skos:exactMatch OMIM:313350 semapv:UnspecifiedMatching +obo:GARD_15309 Vacterl association, x-linked, with or without hydrocephalus skos:broadMatch Orphanet:3412 semapv:UnspecifiedMatching +obo:GARD_15309 Vacterl association, x-linked, with or without hydrocephalus skos:exactMatch OMIM:314390 semapv:UnspecifiedMatching +obo:GARD_1531 Corneodermatoosseous syndrome skos:exactMatch Orphanet:3194 semapv:UnspecifiedMatching +obo:GARD_1531 Corneodermatoosseous syndrome skos:narrowMatch OMIM:122440 semapv:UnspecifiedMatching +obo:GARD_15310 Retinitis pigmentosa, y-linked skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15310 Retinitis pigmentosa, y-linked skos:exactMatch OMIM:400004 semapv:UnspecifiedMatching +obo:GARD_15311 Leber optic atrophy and dystonia skos:broadMatch Orphanet:99718 semapv:UnspecifiedMatching +obo:GARD_15311 Leber optic atrophy and dystonia skos:exactMatch OMIM:500001 semapv:UnspecifiedMatching +obo:GARD_15312 Myopathy, lactic acidosis, and sideroblastic anemia 3 skos:broadMatch Orphanet:2598 semapv:UnspecifiedMatching +obo:GARD_15312 Myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch OMIM:500011 semapv:UnspecifiedMatching +obo:GARD_15313 Wolfram syndrome, mitochondrial form skos:broadMatch Orphanet:3463 semapv:UnspecifiedMatching +obo:GARD_15313 Wolfram syndrome, mitochondrial form skos:exactMatch OMIM:598500 semapv:UnspecifiedMatching +obo:GARD_15314 Stargardt disease 3 skos:broadMatch Orphanet:827 semapv:UnspecifiedMatching +obo:GARD_15314 Stargardt disease 3 skos:exactMatch OMIM:600110 semapv:UnspecifiedMatching +obo:GARD_15315 Hirschsprung disease, susceptibility to, 2 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15315 Hirschsprung disease, susceptibility to, 2 skos:exactMatch OMIM:600155 semapv:UnspecifiedMatching +obo:GARD_15316 Hirschsprung disease, susceptibility to, 5 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15316 Hirschsprung disease, susceptibility to, 5 skos:exactMatch OMIM:600156 semapv:UnspecifiedMatching +obo:GARD_15317 Muscular dystrophy, scapulohumeral skos:broadMatch Orphanet:269 semapv:UnspecifiedMatching +obo:GARD_15317 Muscular dystrophy, scapulohumeral skos:exactMatch OMIM:600416 semapv:UnspecifiedMatching +obo:GARD_15319 Epilepsy, nocturnal frontal lobe, 1 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +obo:GARD_15319 Epilepsy, nocturnal frontal lobe, 1 skos:exactMatch OMIM:600513 semapv:UnspecifiedMatching +obo:GARD_15320 Uv-sensitive syndrome 1 skos:broadMatch Orphanet:178338 semapv:UnspecifiedMatching +obo:GARD_15320 Uv-sensitive syndrome 1 skos:exactMatch OMIM:600630 semapv:UnspecifiedMatching +obo:GARD_15321 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +obo:GARD_15321 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement skos:exactMatch OMIM:600638 semapv:UnspecifiedMatching +obo:GARD_15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:broadMatch Orphanet:275864 semapv:UnspecifiedMatching +obo:GARD_15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15322 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 semapv:UnspecifiedMatching +obo:GARD_15323 Cardiomyopathy, dilated, 1b skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15323 Cardiomyopathy, dilated, 1b skos:exactMatch OMIM:600884 semapv:UnspecifiedMatching +obo:GARD_15324 Fanconi anemia, complementation group e skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15324 Fanconi anemia, complementation group e skos:exactMatch OMIM:600901 semapv:UnspecifiedMatching +obo:GARD_15325 Wiskott-aldrich syndrome, autosomal dominant skos:broadMatch Orphanet:906 semapv:UnspecifiedMatching +obo:GARD_15325 Wiskott-aldrich syndrome, autosomal dominant skos:exactMatch OMIM:600903 semapv:UnspecifiedMatching +obo:GARD_15326 Nephrotic syndrome, type 2 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15326 Nephrotic syndrome, type 2 skos:exactMatch OMIM:600995 semapv:UnspecifiedMatching +obo:GARD_15327 Cataract 24 skos:broadMatch Orphanet:98988 semapv:UnspecifiedMatching +obo:GARD_15327 Cataract 24 skos:exactMatch OMIM:601202 semapv:UnspecifiedMatching +obo:GARD_15328 Wilms tumor 4 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_15328 Wilms tumor 4 skos:exactMatch OMIM:601363 semapv:UnspecifiedMatching +obo:GARD_15329 Platelet disorder, familial, with associated myeloid malignancy skos:broadMatch Orphanet:71290 semapv:UnspecifiedMatching +obo:GARD_15329 Platelet disorder, familial, with associated myeloid malignancy skos:exactMatch OMIM:601399 semapv:UnspecifiedMatching +obo:GARD_1533 Coronary arterial fistula skos:exactMatch Orphanet:2041 semapv:UnspecifiedMatching +obo:GARD_15330 Myasthenic syndrome, congenital, 1a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15330 Myasthenic syndrome, congenital, 1a, slow-channel skos:exactMatch OMIM:601462 semapv:UnspecifiedMatching +obo:GARD_15331 Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15331 Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch OMIM:601493 semapv:UnspecifiedMatching +obo:GARD_15332 Cardiomyopathy, dilated, 1d skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15332 Cardiomyopathy, dilated, 1d skos:exactMatch OMIM:601494 semapv:UnspecifiedMatching +obo:GARD_15334 Prostate cancer, hereditary, 1 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15334 Prostate cancer, hereditary, 1 skos:exactMatch OMIM:601518 semapv:UnspecifiedMatching +obo:GARD_15335 Cataract 3, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +obo:GARD_15335 Cataract 3, multiple types skos:broadMatch Orphanet:98994 semapv:UnspecifiedMatching +obo:GARD_15335 Cataract 3, multiple types skos:exactMatch OMIM:601547 semapv:UnspecifiedMatching +obo:GARD_15336 Wilms tumor 5 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_15336 Wilms tumor 5 skos:exactMatch OMIM:601583 semapv:UnspecifiedMatching +obo:GARD_15337 Exudative vitreoretinopathy 4 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_15337 Exudative vitreoretinopathy 4 skos:exactMatch OMIM:601813 semapv:UnspecifiedMatching +obo:GARD_1534 Coronary artery congenital malformation skos:exactMatch Orphanet:1081 semapv:UnspecifiedMatching +obo:GARD_15340 Friedreich ataxia 2 skos:broadMatch Orphanet:95 semapv:UnspecifiedMatching +obo:GARD_15340 Friedreich ataxia 2 skos:exactMatch OMIM:601992 semapv:UnspecifiedMatching +obo:GARD_15341 Fibrosis of extraocular muscles, congenital, 2 skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +obo:GARD_15341 Fibrosis of extraocular muscles, congenital, 2 skos:exactMatch OMIM:602078 semapv:UnspecifiedMatching +obo:GARD_15342 Cone dystrophy 3 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +obo:GARD_15342 Cone dystrophy 3 skos:exactMatch OMIM:602093 semapv:UnspecifiedMatching +obo:GARD_15343 Amyotrophic lateral sclerosis 5, juvenile skos:broadMatch Orphanet:300605 semapv:UnspecifiedMatching +obo:GARD_15343 Amyotrophic lateral sclerosis 5, juvenile skos:exactMatch OMIM:602099 semapv:UnspecifiedMatching +obo:GARD_15344 Nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:broadMatch Orphanet:171 semapv:UnspecifiedMatching +obo:GARD_15344 Nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:exactMatch OMIM:602114 semapv:UnspecifiedMatching +obo:GARD_15346 Auriculocondylar syndrome 1 skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +obo:GARD_15346 Auriculocondylar syndrome 1 skos:exactMatch OMIM:602483 semapv:UnspecifiedMatching +obo:GARD_15347 Chondrodysplasia punctata, brachytelephalangic, autosomal skos:broadMatch Orphanet:79345 semapv:UnspecifiedMatching +obo:GARD_15347 Chondrodysplasia punctata, brachytelephalangic, autosomal skos:exactMatch OMIM:602497 semapv:UnspecifiedMatching +obo:GARD_15348 Bartter syndrome, type 4a, neonatal, with sensorineural deafness skos:broadMatch Orphanet:89938 semapv:UnspecifiedMatching +obo:GARD_15348 Bartter syndrome, type 4a, neonatal, with sensorineural deafness skos:exactMatch OMIM:602522 semapv:UnspecifiedMatching +obo:GARD_15349 Ichthyosis, hystrix-like, with deafness skos:broadMatch Orphanet:477 semapv:UnspecifiedMatching +obo:GARD_15349 Ichthyosis, hystrix-like, with deafness skos:exactMatch OMIM:602540 semapv:UnspecifiedMatching +obo:GARD_15350 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:broadMatch Orphanet:402041 semapv:UnspecifiedMatching +obo:GARD_15350 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch OMIM:602722 semapv:UnspecifiedMatching +obo:GARD_15351 Prostate cancer, hereditary, 8 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15351 Prostate cancer, hereditary, 8 skos:exactMatch OMIM:602759 semapv:UnspecifiedMatching +obo:GARD_15352 Epilepsy, nocturnal frontal lobe, 2 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +obo:GARD_15352 Epilepsy, nocturnal frontal lobe, 2 skos:exactMatch OMIM:603204 semapv:UnspecifiedMatching +obo:GARD_15353 Focal segmental glomerulosclerosis 1 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15353 Focal segmental glomerulosclerosis 1 skos:exactMatch OMIM:603278 semapv:UnspecifiedMatching +obo:GARD_15354 Thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_15354 Thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch OMIM:603386 semapv:UnspecifiedMatching +obo:GARD_15355 Fanconi anemia, complementation group f skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15355 Fanconi anemia, complementation group f skos:exactMatch OMIM:603467 semapv:UnspecifiedMatching +obo:GARD_15356 Cone-rod dystrophy 7 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15356 Cone-rod dystrophy 7 skos:exactMatch OMIM:603649 semapv:UnspecifiedMatching +obo:GARD_15357 Prostate cancer/brain cancer susceptibility skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15357 Prostate cancer/brain cancer susceptibility skos:exactMatch OMIM:603688 semapv:UnspecifiedMatching +obo:GARD_15358 Papillary thyroid microcarcinoma skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_15358 Papillary thyroid microcarcinoma skos:exactMatch OMIM:603744 semapv:UnspecifiedMatching +obo:GARD_15359 Stargardt disease 4 skos:broadMatch Orphanet:827 semapv:UnspecifiedMatching +obo:GARD_15359 Stargardt disease 4 skos:exactMatch OMIM:603786 semapv:UnspecifiedMatching +obo:GARD_15360 Microcephaly with simplified gyral pattern skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15360 Microcephaly with simplified gyral pattern skos:exactMatch OMIM:603802 semapv:UnspecifiedMatching +obo:GARD_15361 Autoimmune lymphoproliferative syndrome, type iia skos:broadMatch Orphanet:3261 semapv:UnspecifiedMatching +obo:GARD_15361 Autoimmune lymphoproliferative syndrome, type iia skos:exactMatch OMIM:603909 semapv:UnspecifiedMatching +obo:GARD_15362 Focal segmental glomerulosclerosis 2 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15362 Focal segmental glomerulosclerosis 2 skos:exactMatch OMIM:603965 semapv:UnspecifiedMatching +obo:GARD_15363 Cardiomyopathy, dilated, 1g skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15363 Cardiomyopathy, dilated, 1g skos:exactMatch OMIM:604145 semapv:UnspecifiedMatching +obo:GARD_15364 Cataract 9, multiple types skos:broadMatch Orphanet:1377 semapv:UnspecifiedMatching +obo:GARD_15364 Cataract 9, multiple types skos:exactMatch OMIM:604219 semapv:UnspecifiedMatching +obo:GARD_15365 Cardiomyopathy, dilated, 1h skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15365 Cardiomyopathy, dilated, 1h skos:exactMatch OMIM:604288 semapv:UnspecifiedMatching +obo:GARD_15366 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15366 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch OMIM:604317 semapv:UnspecifiedMatching +obo:GARD_15367 Microcephaly 4, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15367 Microcephaly 4, primary, autosomal recessive skos:exactMatch OMIM:604321 semapv:UnspecifiedMatching +obo:GARD_15368 Advanced sleep phase syndrome, familial, 1 skos:broadMatch Orphanet:164736 semapv:UnspecifiedMatching +obo:GARD_15368 Advanced sleep phase syndrome, familial, 1 skos:exactMatch OMIM:604348 semapv:UnspecifiedMatching +obo:GARD_1537 Corpus callosum agenesis-neuronopathy syndrome skos:exactMatch Orphanet:1496 semapv:UnspecifiedMatching +obo:GARD_1537 Corpus callosum agenesis-neuronopathy syndrome skos:narrowMatch OMIM:218000 semapv:UnspecifiedMatching +obo:GARD_15370 Van der woude syndrome 1, modifier of skos:broadMatch Orphanet:888 semapv:UnspecifiedMatching +obo:GARD_15370 Van der woude syndrome 1, modifier of skos:exactMatch OMIM:604547 semapv:UnspecifiedMatching +obo:GARD_15372 Cardiomyopathy, dilated, 1i skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15372 Cardiomyopathy, dilated, 1i skos:exactMatch OMIM:604765 semapv:UnspecifiedMatching +obo:GARD_15373 Microcephaly 3, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15373 Microcephaly 3, primary, autosomal recessive skos:exactMatch OMIM:604804 semapv:UnspecifiedMatching +obo:GARD_15374 Wolfram syndrome 2 skos:broadMatch Orphanet:3463 semapv:UnspecifiedMatching +obo:GARD_15374 Wolfram syndrome 2 skos:exactMatch OMIM:604928 semapv:UnspecifiedMatching +obo:GARD_15375 Cortisone reductase deficiency 1 skos:broadMatch Orphanet:168588 semapv:UnspecifiedMatching +obo:GARD_15375 Cortisone reductase deficiency 1 skos:exactMatch OMIM:604931 semapv:UnspecifiedMatching +obo:GARD_15376 Hypobetalipoproteinemia, familial, 2 skos:broadMatch Orphanet:14 semapv:UnspecifiedMatching +obo:GARD_15376 Hypobetalipoproteinemia, familial, 2 skos:exactMatch OMIM:605019 semapv:UnspecifiedMatching +obo:GARD_15377 Carney complex, type 2 skos:broadMatch Orphanet:1359 semapv:UnspecifiedMatching +obo:GARD_15377 Carney complex, type 2 skos:exactMatch OMIM:605244 semapv:UnspecifiedMatching +obo:GARD_15378 Split-hand/foot malformation 4 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +obo:GARD_15378 Split-hand/foot malformation 4 skos:exactMatch OMIM:605289 semapv:UnspecifiedMatching +obo:GARD_15379 Optic atrophy 4 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +obo:GARD_15379 Optic atrophy 4 skos:exactMatch OMIM:605293 semapv:UnspecifiedMatching +obo:GARD_15380 Epilepsy, nocturnal frontal lobe, 3 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +obo:GARD_15380 Epilepsy, nocturnal frontal lobe, 3 skos:exactMatch OMIM:605375 semapv:UnspecifiedMatching +obo:GARD_15381 Cone-rod dystrophy 8 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15381 Cone-rod dystrophy 8 skos:exactMatch OMIM:605549 semapv:UnspecifiedMatching +obo:GARD_15382 Cardiomyopathy, dilated, 1k skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15382 Cardiomyopathy, dilated, 1k skos:exactMatch OMIM:605582 semapv:UnspecifiedMatching +obo:GARD_15383 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:broadMatch Orphanet:166260 semapv:UnspecifiedMatching +obo:GARD_15383 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:exactMatch OMIM:605594 semapv:UnspecifiedMatching +obo:GARD_15384 Cerebellar ataxia and hypergonadotropic hypogonadism skos:broadMatch Orphanet:1173 semapv:UnspecifiedMatching +obo:GARD_15384 Cerebellar ataxia and hypergonadotropic hypogonadism skos:exactMatch OMIM:605672 semapv:UnspecifiedMatching +obo:GARD_15385 Microphthalmia, isolated, with coloboma 2 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15385 Microphthalmia, isolated, with coloboma 2 skos:exactMatch OMIM:605738 semapv:UnspecifiedMatching +obo:GARD_15386 Exudative vitreoretinopathy 3 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_15386 Exudative vitreoretinopathy 3 skos:exactMatch OMIM:605750 semapv:UnspecifiedMatching +obo:GARD_15387 Myasthenic syndrome, congenital, 4a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15387 Myasthenic syndrome, congenital, 4a, slow-channel skos:exactMatch OMIM:605809 semapv:UnspecifiedMatching +obo:GARD_15388 Narcolepsy 2, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15388 Narcolepsy 2, susceptibility to skos:exactMatch OMIM:605841 semapv:UnspecifiedMatching +obo:GARD_15389 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:broadMatch Orphanet:64753 semapv:UnspecifiedMatching +obo:GARD_15389 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch OMIM:606002 semapv:UnspecifiedMatching +obo:GARD_15390 Diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15390 Diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch OMIM:606164 semapv:UnspecifiedMatching +obo:GARD_15391 Thyroid cancer, nonmedullary, 3 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_15391 Thyroid cancer, nonmedullary, 3 skos:exactMatch OMIM:606240 semapv:UnspecifiedMatching +obo:GARD_15392 Maturity-onset diabetes of the young skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_15392 Maturity-onset diabetes of the young skos:exactMatch OMIM:606391 semapv:UnspecifiedMatching +obo:GARD_15393 Ichthyosis, congenital, autosomal recessive 3 skos:broadMatch Orphanet:281122 semapv:UnspecifiedMatching +obo:GARD_15393 Ichthyosis, congenital, autosomal recessive 3 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_15393 Ichthyosis, congenital, autosomal recessive 3 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_15393 Ichthyosis, congenital, autosomal recessive 3 skos:exactMatch OMIM:606545 semapv:UnspecifiedMatching +obo:GARD_15394 Melanoma, uveal, susceptibility to, 1 skos:broadMatch Orphanet:39044 semapv:UnspecifiedMatching +obo:GARD_15394 Melanoma, uveal, susceptibility to, 1 skos:exactMatch OMIM:606660 semapv:UnspecifiedMatching +obo:GARD_15395 Melanoma, uveal, susceptibility to, 2 skos:broadMatch Orphanet:39044 semapv:UnspecifiedMatching +obo:GARD_15395 Melanoma, uveal, susceptibility to, 2 skos:exactMatch OMIM:606661 semapv:UnspecifiedMatching +obo:GARD_15396 Waardenburg syndrome, type 2c skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +obo:GARD_15396 Waardenburg syndrome, type 2c skos:exactMatch OMIM:606662 semapv:UnspecifiedMatching +obo:GARD_15397 Cardiomyopathy, dilated, 1l skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15397 Cardiomyopathy, dilated, 1l skos:exactMatch OMIM:606685 semapv:UnspecifiedMatching +obo:GARD_15398 Split-hand/foot malformation 5 skos:broadMatch Orphanet:2440 semapv:UnspecifiedMatching +obo:GARD_15398 Split-hand/foot malformation 5 skos:exactMatch OMIM:606708 semapv:UnspecifiedMatching +obo:GARD_15399 Seckel syndrome 2 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_15399 Seckel syndrome 2 skos:exactMatch OMIM:606744 semapv:UnspecifiedMatching +obo:GARD_15400 Ciliary dyskinesia, primary, 2 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15400 Ciliary dyskinesia, primary, 2 skos:exactMatch OMIM:606763 semapv:UnspecifiedMatching +obo:GARD_15401 Pancreatic cancer, susceptibility to, 1 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +obo:GARD_15401 Pancreatic cancer, susceptibility to, 1 skos:exactMatch OMIM:606856 semapv:UnspecifiedMatching +obo:GARD_15402 Hirschsprung disease, susceptibility to, 6 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15402 Hirschsprung disease, susceptibility to, 6 skos:exactMatch OMIM:606874 semapv:UnspecifiedMatching +obo:GARD_15403 Hirschsprung disease, susceptibility to, 7 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15403 Hirschsprung disease, susceptibility to, 7 skos:exactMatch OMIM:606875 semapv:UnspecifiedMatching +obo:GARD_15404 Usher syndrome, type ig skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_15404 Usher syndrome, type ig skos:exactMatch OMIM:606943 semapv:UnspecifiedMatching +obo:GARD_15405 Senior-loken syndrome 3 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_15405 Senior-loken syndrome 3 skos:exactMatch OMIM:606995 semapv:UnspecifiedMatching +obo:GARD_15406 Senior-loken syndrome 4 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_15406 Senior-loken syndrome 4 skos:exactMatch OMIM:606996 semapv:UnspecifiedMatching +obo:GARD_15407 Brachydactyly, type a1, b skos:broadMatch Orphanet:93388 semapv:UnspecifiedMatching +obo:GARD_15407 Brachydactyly, type a1, b skos:exactMatch OMIM:607004 semapv:UnspecifiedMatching +obo:GARD_15408 Aortic aneurysm, familial thoracic 1 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_15408 Aortic aneurysm, familial thoracic 1 skos:exactMatch OMIM:607086 semapv:UnspecifiedMatching +obo:GARD_15409 Aortic aneurysm, familial thoracic 2 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_15409 Aortic aneurysm, familial thoracic 2 skos:exactMatch OMIM:607087 semapv:UnspecifiedMatching +obo:GARD_15410 Moyamoya disease 2 skos:broadMatch Orphanet:2573 semapv:UnspecifiedMatching +obo:GARD_15410 Moyamoya disease 2 skos:exactMatch OMIM:607151 semapv:UnspecifiedMatching +obo:GARD_15411 Smith-mccort dysplasia 1 skos:broadMatch Orphanet:178355 semapv:UnspecifiedMatching +obo:GARD_15411 Smith-mccort dysplasia 1 skos:exactMatch OMIM:607326 semapv:UnspecifiedMatching +obo:GARD_15412 Glucocorticoid deficiency 2 skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +obo:GARD_15412 Glucocorticoid deficiency 2 skos:exactMatch OMIM:607398 semapv:UnspecifiedMatching +obo:GARD_15413 Cardiomyopathy, dilated, 1m skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15413 Cardiomyopathy, dilated, 1m skos:exactMatch OMIM:607482 semapv:UnspecifiedMatching +obo:GARD_15414 Atrial fibrillation, familial, 3 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15414 Atrial fibrillation, familial, 3 skos:exactMatch OMIM:607554 semapv:UnspecifiedMatching +obo:GARD_15415 Leprosy, susceptibility to, 2 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +obo:GARD_15415 Leprosy, susceptibility to, 2 skos:exactMatch OMIM:607572 semapv:UnspecifiedMatching +obo:GARD_15416 Pontocerebellar hypoplasia, type 1a skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_15416 Pontocerebellar hypoplasia, type 1a skos:exactMatch OMIM:607596 semapv:UnspecifiedMatching +obo:GARD_15417 Ichthyosis, cyclic, with epidermolytic hyperkeratosis skos:broadMatch Orphanet:312 semapv:UnspecifiedMatching +obo:GARD_15417 Ichthyosis, cyclic, with epidermolytic hyperkeratosis skos:exactMatch OMIM:607602 semapv:UnspecifiedMatching +obo:GARD_15418 Candidiasis, familial, 3 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15418 Candidiasis, familial, 3 skos:exactMatch OMIM:607644 semapv:UnspecifiedMatching +obo:GARD_15420 Hypotrichosis-lymphedema-telangiectasia syndrome skos:broadMatch Orphanet:69735 semapv:UnspecifiedMatching +obo:GARD_15420 Hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch OMIM:607823 semapv:UnspecifiedMatching +obo:GARD_15421 Mitral valve prolapse 2 skos:broadMatch Orphanet:741 semapv:UnspecifiedMatching +obo:GARD_15421 Mitral valve prolapse 2 skos:exactMatch OMIM:607829 semapv:UnspecifiedMatching +obo:GARD_15422 Focal segmental glomerulosclerosis 3, susceptibility to skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15422 Focal segmental glomerulosclerosis 3, susceptibility to skos:exactMatch OMIM:607832 semapv:UnspecifiedMatching +obo:GARD_15423 Hypotrichosis 6 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_15423 Hypotrichosis 6 skos:exactMatch OMIM:607903 semapv:UnspecifiedMatching +obo:GARD_15424 Periventricular heterotopia with microcephaly, autosomal recessive skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_15424 Periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch OMIM:608097 semapv:UnspecifiedMatching +obo:GARD_15425 Periventricular nodular heterotopia 3 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_15425 Periventricular nodular heterotopia 3 skos:exactMatch OMIM:608098 semapv:UnspecifiedMatching +obo:GARD_15426 Cone-rod dystrophy 13 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15426 Cone-rod dystrophy 13 skos:exactMatch OMIM:608194 semapv:UnspecifiedMatching +obo:GARD_15427 Seizures, benign familial neonatal, 3 skos:broadMatch Orphanet:1949 semapv:UnspecifiedMatching +obo:GARD_15427 Seizures, benign familial neonatal, 3 skos:exactMatch OMIM:608217 semapv:UnspecifiedMatching +obo:GARD_15428 Weill-marchesani syndrome 2 skos:broadMatch Orphanet:3449 semapv:UnspecifiedMatching +obo:GARD_15428 Weill-marchesani syndrome 2 skos:exactMatch OMIM:608328 semapv:UnspecifiedMatching +obo:GARD_15429 Myopathy, myosin storage, autosomal dominant skos:broadMatch Orphanet:53698 semapv:UnspecifiedMatching +obo:GARD_15429 Myopathy, myosin storage, autosomal dominant skos:exactMatch OMIM:608358 semapv:UnspecifiedMatching +obo:GARD_15430 Branchiootic syndrome 3 skos:broadMatch Orphanet:52429 semapv:UnspecifiedMatching +obo:GARD_15430 Branchiootic syndrome 3 skos:exactMatch OMIM:608389 semapv:UnspecifiedMatching +obo:GARD_15431 Microcephaly 6, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15431 Microcephaly 6, primary, autosomal recessive skos:exactMatch OMIM:608393 semapv:UnspecifiedMatching +obo:GARD_15432 Hirschsprung disease, susceptibility to, 8 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15432 Hirschsprung disease, susceptibility to, 8 skos:exactMatch OMIM:608462 semapv:UnspecifiedMatching +obo:GARD_15434 Cardiomyopathy, dilated, 1o skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15434 Cardiomyopathy, dilated, 1o skos:exactMatch OMIM:608569 semapv:UnspecifiedMatching +obo:GARD_15435 Joubert syndrome 3 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +obo:GARD_15435 Joubert syndrome 3 skos:exactMatch OMIM:608629 semapv:UnspecifiedMatching +obo:GARD_15436 Ciliary dyskinesia, primary, 3 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15436 Ciliary dyskinesia, primary, 3 skos:exactMatch OMIM:608644 semapv:UnspecifiedMatching +obo:GARD_15437 Ciliary dyskinesia, primary, 4 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15437 Ciliary dyskinesia, primary, 4 skos:exactMatch OMIM:608646 semapv:UnspecifiedMatching +obo:GARD_15438 Ciliary dyskinesia, primary, 5 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15438 Ciliary dyskinesia, primary, 5 skos:exactMatch OMIM:608647 semapv:UnspecifiedMatching +obo:GARD_15439 Prostate cancer, hereditary, 3 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15439 Prostate cancer, hereditary, 3 skos:exactMatch OMIM:608656 semapv:UnspecifiedMatching +obo:GARD_1544 Congenitally corrected transposition of the great arteries skos:exactMatch Orphanet:216694 semapv:UnspecifiedMatching +obo:GARD_15440 Prostate cancer, hereditary, 4 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15440 Prostate cancer, hereditary, 4 skos:exactMatch OMIM:608658 semapv:UnspecifiedMatching +obo:GARD_15441 Microcephaly 5, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15441 Microcephaly 5, primary, autosomal recessive skos:exactMatch OMIM:608716 semapv:UnspecifiedMatching +obo:GARD_15442 Moyamoya disease 3 skos:broadMatch Orphanet:2573 semapv:UnspecifiedMatching +obo:GARD_15442 Moyamoya disease 3 skos:exactMatch OMIM:608796 semapv:UnspecifiedMatching +obo:GARD_15443 Myoclonic epilepsy, juvenile, susceptibility to, 3 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +obo:GARD_15443 Myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch OMIM:608816 semapv:UnspecifiedMatching +obo:GARD_15444 Waardenburg syndrome, type 2d skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +obo:GARD_15444 Waardenburg syndrome, type 2d skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching +obo:GARD_15445 Myasthenic syndrome, congenital, 1b, fast-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15445 Myasthenic syndrome, congenital, 1b, fast-channel skos:exactMatch OMIM:608930 semapv:UnspecifiedMatching +obo:GARD_15446 Atrial fibrillation, familial, 2 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15446 Atrial fibrillation, familial, 2 skos:exactMatch OMIM:608988 semapv:UnspecifiedMatching +obo:GARD_15447 Narcolepsy 3 skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15447 Narcolepsy 3 skos:exactMatch OMIM:609039 semapv:UnspecifiedMatching +obo:GARD_15448 Fanconi anemia, complementation group i skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15448 Fanconi anemia, complementation group i skos:exactMatch OMIM:609053 semapv:UnspecifiedMatching +obo:GARD_15449 Fanconi anemia, complementation group j skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15449 Fanconi anemia, complementation group j skos:exactMatch OMIM:609054 semapv:UnspecifiedMatching +obo:GARD_15450 Glucocorticoid deficiency 3 skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +obo:GARD_15450 Glucocorticoid deficiency 3 skos:exactMatch OMIM:609197 semapv:UnspecifiedMatching +obo:GARD_15451 Senior-loken syndrome 5 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_15451 Senior-loken syndrome 5 skos:exactMatch OMIM:609254 semapv:UnspecifiedMatching +obo:GARD_15452 Nemaline myopathy 6 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_15452 Nemaline myopathy 6 skos:exactMatch OMIM:609273 semapv:UnspecifiedMatching +obo:GARD_15453 Nemaline myopathy 1 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +obo:GARD_15453 Nemaline myopathy 1 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_15453 Nemaline myopathy 1 skos:exactMatch OMIM:609284 semapv:UnspecifiedMatching +obo:GARD_15454 Nemaline myopathy 4 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_15454 Nemaline myopathy 4 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_15454 Nemaline myopathy 4 skos:exactMatch OMIM:609285 semapv:UnspecifiedMatching +obo:GARD_15455 Prostate cancer, hereditary, 5 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15455 Prostate cancer, hereditary, 5 skos:exactMatch OMIM:609299 semapv:UnspecifiedMatching +obo:GARD_15456 Developmental and epileptic encephalopathy 3 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_15456 Developmental and epileptic encephalopathy 3 skos:broadMatch Orphanet:1935 semapv:UnspecifiedMatching +obo:GARD_15456 Developmental and epileptic encephalopathy 3 skos:exactMatch OMIM:609304 semapv:UnspecifiedMatching +obo:GARD_15457 Colorectal cancer, hereditary nonpolyposis, type 2 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15457 Colorectal cancer, hereditary nonpolyposis, type 2 skos:exactMatch OMIM:609310 semapv:UnspecifiedMatching +obo:GARD_15458 Cerebrorenodigital syndrome with limb malformations and triradiate acetabula skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15458 Cerebrorenodigital syndrome with limb malformations and triradiate acetabula skos:exactMatch OMIM:609345 semapv:UnspecifiedMatching +obo:GARD_15459 Fibrosis of extraocular muscles, congenital, 3c skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +obo:GARD_15459 Fibrosis of extraocular muscles, congenital, 3c skos:exactMatch OMIM:609384 semapv:UnspecifiedMatching +obo:GARD_15460 Left ventricular noncompaction 2 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +obo:GARD_15460 Left ventricular noncompaction 2 skos:exactMatch OMIM:609470 semapv:UnspecifiedMatching +obo:GARD_15461 Stickler syndrome, type i, nonsyndromic ocular skos:broadMatch Orphanet:90653 semapv:UnspecifiedMatching +obo:GARD_15461 Stickler syndrome, type i, nonsyndromic ocular skos:exactMatch OMIM:609508 semapv:UnspecifiedMatching +obo:GARD_15462 Prostate cancer, hereditary, 6 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15462 Prostate cancer, hereditary, 6 skos:exactMatch OMIM:609558 semapv:UnspecifiedMatching +obo:GARD_15463 Photoparoxysmal response 2 skos:broadMatch Orphanet:166409 semapv:UnspecifiedMatching +obo:GARD_15463 Photoparoxysmal response 2 skos:exactMatch OMIM:609572 semapv:UnspecifiedMatching +obo:GARD_15464 Photoparoxysmal response 3 skos:broadMatch Orphanet:166409 semapv:UnspecifiedMatching +obo:GARD_15464 Photoparoxysmal response 3 skos:exactMatch OMIM:609573 semapv:UnspecifiedMatching +obo:GARD_15465 Joubert syndrome 4 skos:broadMatch Orphanet:220497 semapv:UnspecifiedMatching +obo:GARD_15465 Joubert syndrome 4 skos:exactMatch OMIM:609583 semapv:UnspecifiedMatching +obo:GARD_15466 Fibrosis of extraocular muscles, congenital, with synergistic divergence skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +obo:GARD_15466 Fibrosis of extraocular muscles, congenital, with synergistic divergence skos:exactMatch OMIM:609612 semapv:UnspecifiedMatching +obo:GARD_15467 Leukemia, chronic lymphocytic, susceptibility to, 1 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +obo:GARD_15467 Leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch OMIM:609630 semapv:UnspecifiedMatching +obo:GARD_15469 Cardiomyopathy, dilated, 1p skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15469 Cardiomyopathy, dilated, 1p skos:exactMatch OMIM:609909 semapv:UnspecifiedMatching +obo:GARD_15470 Cardiomyopathy, dilated, 1q skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15470 Cardiomyopathy, dilated, 1q skos:exactMatch OMIM:609915 semapv:UnspecifiedMatching +obo:GARD_15471 Microphthalmia, isolated, with coloboma 3 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15471 Microphthalmia, isolated, with coloboma 3 skos:exactMatch OMIM:610092 semapv:UnspecifiedMatching +obo:GARD_15472 Aicardi-goutieres syndrome 2 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_15472 Aicardi-goutieres syndrome 2 skos:exactMatch OMIM:610181 semapv:UnspecifiedMatching +obo:GARD_15473 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 skos:broadMatch Orphanet:1766 semapv:UnspecifiedMatching +obo:GARD_15473 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 skos:exactMatch OMIM:610185 semapv:UnspecifiedMatching +obo:GARD_15474 Diaphragmatic hernia 3 skos:broadMatch Orphanet:2140 semapv:UnspecifiedMatching +obo:GARD_15474 Diaphragmatic hernia 3 skos:exactMatch OMIM:610187 semapv:UnspecifiedMatching +obo:GARD_15475 Joubert syndrome 5 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +obo:GARD_15475 Joubert syndrome 5 skos:exactMatch OMIM:610188 semapv:UnspecifiedMatching +obo:GARD_15476 Senior-loken syndrome 6 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_15476 Senior-loken syndrome 6 skos:exactMatch OMIM:610189 semapv:UnspecifiedMatching +obo:GARD_15477 Cone-rod dystrophy 10 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15477 Cone-rod dystrophy 10 skos:exactMatch OMIM:610283 semapv:UnspecifiedMatching +obo:GARD_15478 Prostate cancer, hereditary, 7 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15478 Prostate cancer, hereditary, 7 skos:exactMatch OMIM:610321 semapv:UnspecifiedMatching +obo:GARD_15479 Aicardi-goutieres syndrome 3 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_15479 Aicardi-goutieres syndrome 3 skos:exactMatch OMIM:610329 semapv:UnspecifiedMatching +obo:GARD_1548 Cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch Orphanet:1389 semapv:UnspecifiedMatching +obo:GARD_1548 Cortical blindness-intellectual disability-polydactyly syndrome skos:narrowMatch OMIM:218010 semapv:UnspecifiedMatching +obo:GARD_15480 Aicardi-goutieres syndrome 4 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_15480 Aicardi-goutieres syndrome 4 skos:exactMatch OMIM:610333 semapv:UnspecifiedMatching +obo:GARD_15481 Epilepsy, nocturnal frontal lobe, 4 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +obo:GARD_15481 Epilepsy, nocturnal frontal lobe, 4 skos:exactMatch OMIM:610353 semapv:UnspecifiedMatching +obo:GARD_15482 Diabetes mellitus, transient neonatal, 2 skos:broadMatch Orphanet:99886 semapv:UnspecifiedMatching +obo:GARD_15482 Diabetes mellitus, transient neonatal, 2 skos:exactMatch OMIM:610374 semapv:UnspecifiedMatching +obo:GARD_15483 West nile virus, susceptibility to skos:broadMatch Orphanet:83476 semapv:UnspecifiedMatching +obo:GARD_15483 West nile virus, susceptibility to skos:exactMatch OMIM:610379 semapv:UnspecifiedMatching +obo:GARD_15484 Cone-rod dystrophy 11 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15484 Cone-rod dystrophy 11 skos:exactMatch OMIM:610381 semapv:UnspecifiedMatching +obo:GARD_15485 Cone-rod synaptic disorder, congenital nonprogressive skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15485 Cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch OMIM:610427 semapv:UnspecifiedMatching +obo:GARD_15486 Macroglobulinemia, waldenstrom, susceptibility to, 2 skos:broadMatch Orphanet:33226 semapv:UnspecifiedMatching +obo:GARD_15486 Macroglobulinemia, waldenstrom, susceptibility to, 2 skos:exactMatch OMIM:610430 semapv:UnspecifiedMatching +obo:GARD_15487 Night blindness, congenital stationary, autosomal dominant 3 skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15487 Night blindness, congenital stationary, autosomal dominant 3 skos:exactMatch OMIM:610444 semapv:UnspecifiedMatching +obo:GARD_15488 Night blindness, congenital stationary, autosomal dominant 1 skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15488 Night blindness, congenital stationary, autosomal dominant 1 skos:exactMatch OMIM:610445 semapv:UnspecifiedMatching +obo:GARD_15489 Pigmented nodular adrenocortical disease, primary, 2 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +obo:GARD_15489 Pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch OMIM:610475 semapv:UnspecifiedMatching +obo:GARD_15490 Diabetes mellitus, transient neonatal, 3 skos:broadMatch Orphanet:99886 semapv:UnspecifiedMatching +obo:GARD_15490 Diabetes mellitus, transient neonatal, 3 skos:exactMatch OMIM:610582 semapv:UnspecifiedMatching +obo:GARD_15492 Split-hand/foot malformation with long bone deficiency 2 skos:broadMatch Orphanet:3329 semapv:UnspecifiedMatching +obo:GARD_15492 Split-hand/foot malformation with long bone deficiency 2 skos:exactMatch OMIM:610685 semapv:UnspecifiedMatching +obo:GARD_15493 Nemaline myopathy 7 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_15493 Nemaline myopathy 7 skos:exactMatch OMIM:610687 semapv:UnspecifiedMatching +obo:GARD_15494 Joubert syndrome 6 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15494 Joubert syndrome 6 skos:exactMatch OMIM:610688 semapv:UnspecifiedMatching +obo:GARD_15495 Nephrotic syndrome, type 3 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15495 Nephrotic syndrome, type 3 skos:exactMatch OMIM:610725 semapv:UnspecifiedMatching +obo:GARD_15496 Alopecia areata 2 skos:broadMatch Orphanet:700 semapv:UnspecifiedMatching +obo:GARD_15496 Alopecia areata 2 skos:broadMatch Orphanet:701 semapv:UnspecifiedMatching +obo:GARD_15496 Alopecia areata 2 skos:exactMatch OMIM:610753 semapv:UnspecifiedMatching +obo:GARD_15497 Cerebrooculofacioskeletal syndrome 2 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +obo:GARD_15497 Cerebrooculofacioskeletal syndrome 2 skos:exactMatch OMIM:610756 semapv:UnspecifiedMatching +obo:GARD_15498 Cerebrooculofacioskeletal syndrome 4 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +obo:GARD_15498 Cerebrooculofacioskeletal syndrome 4 skos:exactMatch OMIM:610758 semapv:UnspecifiedMatching +obo:GARD_15499 Cornelia de lange syndrome 3 with or without midline brain defects skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +obo:GARD_15499 Cornelia de lange syndrome 3 with or without midline brain defects skos:exactMatch OMIM:610759 semapv:UnspecifiedMatching +obo:GARD_155 Laurin-Sandrow syndrome skos:exactMatch Orphanet:2378 semapv:UnspecifiedMatching +obo:GARD_155 Laurin-Sandrow syndrome skos:narrowMatch OMIM:135750 semapv:UnspecifiedMatching +obo:GARD_1550 Costello syndrome skos:exactMatch Orphanet:3071 semapv:UnspecifiedMatching +obo:GARD_1550 Costello syndrome skos:narrowMatch OMIM:218040 semapv:UnspecifiedMatching +obo:GARD_15500 Fanconi anemia, complementation group n skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15500 Fanconi anemia, complementation group n skos:exactMatch OMIM:610832 semapv:UnspecifiedMatching +obo:GARD_15501 Mitral valve prolapse 3 skos:broadMatch Orphanet:741 semapv:UnspecifiedMatching +obo:GARD_15501 Mitral valve prolapse 3 skos:exactMatch OMIM:610840 semapv:UnspecifiedMatching +obo:GARD_15502 Ciliary dyskinesia, primary, 6 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15502 Ciliary dyskinesia, primary, 6 skos:exactMatch OMIM:610852 semapv:UnspecifiedMatching +obo:GARD_15503 Branchiootorenal syndrome 2 skos:broadMatch Orphanet:107 semapv:UnspecifiedMatching +obo:GARD_15503 Branchiootorenal syndrome 2 skos:exactMatch OMIM:610896 semapv:UnspecifiedMatching +obo:GARD_15504 Leprosy, susceptibility to, 4 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +obo:GARD_15504 Leprosy, susceptibility to, 4 skos:exactMatch OMIM:610988 semapv:UnspecifiedMatching +obo:GARD_15505 Prostate cancer, hereditary, 9 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15505 Prostate cancer, hereditary, 9 skos:exactMatch OMIM:610997 semapv:UnspecifiedMatching +obo:GARD_15506 Episodic kinesigenic dyskinesia 2 skos:broadMatch Orphanet:98809 semapv:UnspecifiedMatching +obo:GARD_15506 Episodic kinesigenic dyskinesia 2 skos:exactMatch OMIM:611031 semapv:UnspecifiedMatching +obo:GARD_15507 Prostate cancer, hereditary, 10 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15507 Prostate cancer, hereditary, 10 skos:exactMatch OMIM:611100 semapv:UnspecifiedMatching +obo:GARD_15508 Retinitis pigmentosa 37 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15508 Retinitis pigmentosa 37 skos:exactMatch OMIM:611131 semapv:UnspecifiedMatching +obo:GARD_15509 Meckel syndrome, type 4 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15509 Meckel syndrome, type 4 skos:exactMatch OMIM:611134 semapv:UnspecifiedMatching +obo:GARD_1551 Congenitally short costocoracoid ligament skos:exactMatch Orphanet:2391 semapv:UnspecifiedMatching +obo:GARD_1551 Congenitally short costocoracoid ligament skos:narrowMatch OMIM:122580 semapv:UnspecifiedMatching +obo:GARD_15510 Paroxysmal nonkinesigenic dyskinesia 2 skos:broadMatch Orphanet:98810 semapv:UnspecifiedMatching +obo:GARD_15510 Paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch OMIM:611147 semapv:UnspecifiedMatching +obo:GARD_15511 Short-rib thoracic dysplasia 2 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15511 Short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch OMIM:611263 semapv:UnspecifiedMatching +obo:GARD_15512 Atrial septal defect 4 skos:broadMatch Orphanet:99103 semapv:UnspecifiedMatching +obo:GARD_15512 Atrial septal defect 4 skos:exactMatch OMIM:611363 semapv:UnspecifiedMatching +obo:GARD_15513 Myoclonic epilepsy, juvenile, susceptibility to, 4 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +obo:GARD_15513 Myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch OMIM:611364 semapv:UnspecifiedMatching +obo:GARD_15514 Usher syndrome, type iid skos:broadMatch Orphanet:231178 semapv:UnspecifiedMatching +obo:GARD_15514 Usher syndrome, type iid skos:exactMatch OMIM:611383 semapv:UnspecifiedMatching +obo:GARD_15515 Cardiomyopathy, dilated, 1w skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15515 Cardiomyopathy, dilated, 1w skos:exactMatch OMIM:611407 semapv:UnspecifiedMatching +obo:GARD_15516 Atrial fibrillation, familial, 4 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15516 Atrial fibrillation, familial, 4 skos:exactMatch OMIM:611493 semapv:UnspecifiedMatching +obo:GARD_15517 Atrial fibrillation, familial, 5 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15517 Atrial fibrillation, familial, 5 skos:exactMatch OMIM:611494 semapv:UnspecifiedMatching +obo:GARD_15518 Leopard syndrome 2 skos:broadMatch Orphanet:500 semapv:UnspecifiedMatching +obo:GARD_15518 Leopard syndrome 2 skos:exactMatch OMIM:611554 semapv:UnspecifiedMatching +obo:GARD_15519 Joubert syndrome 7 skos:broadMatch Orphanet:220497 semapv:UnspecifiedMatching +obo:GARD_15519 Joubert syndrome 7 skos:exactMatch OMIM:611560 semapv:UnspecifiedMatching +obo:GARD_15520 Meckel syndrome, type 5 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15520 Meckel syndrome, type 5 skos:exactMatch OMIM:611561 semapv:UnspecifiedMatching +obo:GARD_15521 Waardenburg syndrome, type 2e skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +obo:GARD_15521 Waardenburg syndrome, type 2e skos:exactMatch OMIM:611584 semapv:UnspecifiedMatching +obo:GARD_15522 Cardiomyopathy, dilated, 1x skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15522 Cardiomyopathy, dilated, 1x skos:exactMatch OMIM:611615 semapv:UnspecifiedMatching +obo:GARD_15523 Epilepsy, familial temporal lobe, 4 skos:broadMatch Orphanet:98819 semapv:UnspecifiedMatching +obo:GARD_15523 Epilepsy, familial temporal lobe, 4 skos:exactMatch OMIM:611631 semapv:UnspecifiedMatching +obo:GARD_15524 Microphthalmia, isolated, with coloboma 5 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15524 Microphthalmia, isolated, with coloboma 5 skos:exactMatch OMIM:611638 semapv:UnspecifiedMatching +obo:GARD_15525 Hirschsprung disease, susceptibility to, 9 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15525 Hirschsprung disease, susceptibility to, 9 skos:exactMatch OMIM:611644 semapv:UnspecifiedMatching +obo:GARD_15526 Brugada syndrome 2 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_15526 Brugada syndrome 2 skos:exactMatch OMIM:611777 semapv:UnspecifiedMatching +obo:GARD_15527 Aortic aneurysm, familial thoracic 6 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_15527 Aortic aneurysm, familial thoracic 6 skos:exactMatch OMIM:611788 semapv:UnspecifiedMatching +obo:GARD_15528 Elliptocytosis 1 skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +obo:GARD_15528 Elliptocytosis 1 skos:exactMatch OMIM:611804 semapv:UnspecifiedMatching +obo:GARD_15529 Prostate cancer, hereditary, 12 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15529 Prostate cancer, hereditary, 12 skos:exactMatch OMIM:611868 semapv:UnspecifiedMatching +obo:GARD_15530 Cardiomyopathy, dilated, 1y skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15530 Cardiomyopathy, dilated, 1y skos:exactMatch OMIM:611878 semapv:UnspecifiedMatching +obo:GARD_15531 Cardiomyopathy, dilated, 1z skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15531 Cardiomyopathy, dilated, 1z skos:exactMatch OMIM:611879 semapv:UnspecifiedMatching +obo:GARD_15532 Cardiomyopathy, dilated, 2a skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15532 Cardiomyopathy, dilated, 2a skos:exactMatch OMIM:611880 semapv:UnspecifiedMatching +obo:GARD_15533 Ciliary dyskinesia, primary, 7 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15533 Ciliary dyskinesia, primary, 7 skos:exactMatch OMIM:611884 semapv:UnspecifiedMatching +obo:GARD_15534 Prostate cancer, hereditary, 13 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15534 Prostate cancer, hereditary, 13 skos:exactMatch OMIM:611928 semapv:UnspecifiedMatching +obo:GARD_15535 Ventricular tachycardia, catecholaminergic polymorphic, 2 skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +obo:GARD_15535 Ventricular tachycardia, catecholaminergic polymorphic, 2 skos:exactMatch OMIM:611938 semapv:UnspecifiedMatching +obo:GARD_15536 Prostate cancer, hereditary, 11 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15536 Prostate cancer, hereditary, 11 skos:exactMatch OMIM:611955 semapv:UnspecifiedMatching +obo:GARD_15537 Prostate cancer, hereditary, 14 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15537 Prostate cancer, hereditary, 14 skos:exactMatch OMIM:611958 semapv:UnspecifiedMatching +obo:GARD_15538 Prostate cancer, hereditary, 15 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15538 Prostate cancer, hereditary, 15 skos:exactMatch OMIM:611959 semapv:UnspecifiedMatching +obo:GARD_15539 Coenzyme q10 deficiency, primary, 4 skos:broadMatch Orphanet:139485 semapv:UnspecifiedMatching +obo:GARD_15539 Coenzyme q10 deficiency, primary, 4 skos:exactMatch OMIM:612016 semapv:UnspecifiedMatching +obo:GARD_15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15540 Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch OMIM:612069 semapv:UnspecifiedMatching +obo:GARD_15541 Hypouricemia, renal, 2 skos:broadMatch Orphanet:94088 semapv:UnspecifiedMatching +obo:GARD_15541 Hypouricemia, renal, 2 skos:exactMatch OMIM:612076 semapv:UnspecifiedMatching +obo:GARD_15542 Ectodermal dysplasia and immunodeficiency 2 skos:broadMatch Orphanet:98813 semapv:UnspecifiedMatching +obo:GARD_15542 Ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 semapv:UnspecifiedMatching +obo:GARD_15543 Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15543 Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction skos:exactMatch OMIM:612158 semapv:UnspecifiedMatching +obo:GARD_15544 Atrial fibrillation, familial, 6 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15544 Atrial fibrillation, familial, 6 skos:exactMatch OMIM:612201 semapv:UnspecifiedMatching +obo:GARD_15545 Atrial fibrillation, familial, 7 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15545 Atrial fibrillation, familial, 7 skos:exactMatch OMIM:612240 semapv:UnspecifiedMatching +obo:GARD_15546 Ciliary dyskinesia, primary, 8 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15546 Ciliary dyskinesia, primary, 8 skos:exactMatch OMIM:612274 semapv:UnspecifiedMatching +obo:GARD_15547 Ichthyosis, congenital, autosomal recessive 6 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_15547 Ichthyosis, congenital, autosomal recessive 6 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_15547 Ichthyosis, congenital, autosomal recessive 6 skos:exactMatch OMIM:612281 semapv:UnspecifiedMatching +obo:GARD_15548 Meckel syndrome, type 6 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15548 Meckel syndrome, type 6 skos:exactMatch OMIM:612284 semapv:UnspecifiedMatching +obo:GARD_15549 Joubert syndrome 9 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +obo:GARD_15549 Joubert syndrome 9 skos:exactMatch OMIM:612285 semapv:UnspecifiedMatching +obo:GARD_1555 Pelviscapular dysplasia skos:exactMatch Orphanet:93333 semapv:UnspecifiedMatching +obo:GARD_1555 Pelviscapular dysplasia skos:narrowMatch OMIM:260660 semapv:UnspecifiedMatching +obo:GARD_15550 Joubert syndrome 8 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15550 Joubert syndrome 8 skos:exactMatch OMIM:612291 semapv:UnspecifiedMatching +obo:GARD_15551 Porokeratosis 5, disseminated superficial actinic type skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_15551 Porokeratosis 5, disseminated superficial actinic type skos:exactMatch OMIM:612293 semapv:UnspecifiedMatching +obo:GARD_15552 Porokeratosis 6, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_15552 Porokeratosis 6, multiple types skos:exactMatch OMIM:612353 semapv:UnspecifiedMatching +obo:GARD_15553 Pontocerebellar hypoplasia, type 2b skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +obo:GARD_15553 Pontocerebellar hypoplasia, type 2b skos:exactMatch OMIM:612389 semapv:UnspecifiedMatching +obo:GARD_15554 Pontocerebellar hypoplasia, type 2c skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +obo:GARD_15554 Pontocerebellar hypoplasia, type 2c skos:exactMatch OMIM:612390 semapv:UnspecifiedMatching +obo:GARD_15555 Narcolepsy 4, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15555 Narcolepsy 4, susceptibility to skos:exactMatch OMIM:612417 semapv:UnspecifiedMatching +obo:GARD_15556 Epilepsy, progressive myoclonic, 1b skos:broadMatch Orphanet:308 semapv:UnspecifiedMatching +obo:GARD_15556 Epilepsy, progressive myoclonic, 1b skos:exactMatch OMIM:612437 semapv:UnspecifiedMatching +obo:GARD_15557 Leukodystrophy, hypomyelinating, 6 skos:broadMatch Orphanet:139441 semapv:UnspecifiedMatching +obo:GARD_15557 Leukodystrophy, hypomyelinating, 6 skos:exactMatch OMIM:612438 semapv:UnspecifiedMatching +obo:GARD_15558 Ciliary dyskinesia, primary, 9 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15558 Ciliary dyskinesia, primary, 9 skos:exactMatch OMIM:612444 semapv:UnspecifiedMatching +obo:GARD_15559 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome skos:broadMatch Orphanet:893 semapv:UnspecifiedMatching +obo:GARD_15559 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome skos:exactMatch OMIM:612469 semapv:UnspecifiedMatching +obo:GARD_15560 Ciliary dyskinesia, primary, 10 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15560 Ciliary dyskinesia, primary, 10 skos:exactMatch OMIM:612518 semapv:UnspecifiedMatching +obo:GARD_15561 Diamond-blackfan anemia 4 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15561 Diamond-blackfan anemia 4 skos:exactMatch OMIM:612527 semapv:UnspecifiedMatching +obo:GARD_15562 Diamond-blackfan anemia 5 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15562 Diamond-blackfan anemia 5 skos:exactMatch OMIM:612528 semapv:UnspecifiedMatching +obo:GARD_15563 Amelogenesis imperfecta, hypomaturation type, iia2 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_15563 Amelogenesis imperfecta, hypomaturation type, iia2 skos:exactMatch OMIM:612529 semapv:UnspecifiedMatching +obo:GARD_15564 Focal segmental glomerulosclerosis 4, susceptibility to skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15564 Focal segmental glomerulosclerosis 4, susceptibility to skos:exactMatch OMIM:612551 semapv:UnspecifiedMatching +obo:GARD_15565 Leukemia, chronic lymphocytic, susceptibility to, 3 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +obo:GARD_15565 Leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch OMIM:612557 semapv:UnspecifiedMatching +obo:GARD_15566 Leukemia, chronic lymphocytic, susceptibility to, 4 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +obo:GARD_15566 Leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch OMIM:612558 semapv:UnspecifiedMatching +obo:GARD_15567 Leukemia, chronic lymphocytic, susceptibility to, 5 skos:broadMatch Orphanet:67038 semapv:UnspecifiedMatching +obo:GARD_15567 Leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch OMIM:612559 semapv:UnspecifiedMatching +obo:GARD_15568 Diamond-blackfan anemia 6 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15568 Diamond-blackfan anemia 6 skos:exactMatch OMIM:612561 semapv:UnspecifiedMatching +obo:GARD_15569 Diamond-blackfan anemia 7 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15569 Diamond-blackfan anemia 7 skos:exactMatch OMIM:612562 semapv:UnspecifiedMatching +obo:GARD_15570 Diamond-blackfan anemia 8 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15570 Diamond-blackfan anemia 8 skos:exactMatch OMIM:612563 semapv:UnspecifiedMatching +obo:GARD_15571 Retinitis pigmentosa 46 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15571 Retinitis pigmentosa 46 skos:exactMatch OMIM:612572 semapv:UnspecifiedMatching +obo:GARD_15572 Chromosome 17p13.3, telomeric, duplication syndrome skos:broadMatch Orphanet:3329 semapv:UnspecifiedMatching +obo:GARD_15572 Chromosome 17p13.3, telomeric, duplication syndrome skos:exactMatch OMIM:612576 semapv:UnspecifiedMatching +obo:GARD_15573 Usher syndrome, type ih skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_15573 Usher syndrome, type ih skos:exactMatch OMIM:612632 semapv:UnspecifiedMatching +obo:GARD_15574 Ciliary dyskinesia, primary, 11 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15574 Ciliary dyskinesia, primary, 11 skos:exactMatch OMIM:612649 semapv:UnspecifiedMatching +obo:GARD_15575 Ciliary dyskinesia, primary, 12 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15575 Ciliary dyskinesia, primary, 12 skos:exactMatch OMIM:612650 semapv:UnspecifiedMatching +obo:GARD_15576 Spherocytosis, type 4 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +obo:GARD_15576 Spherocytosis, type 4 skos:exactMatch OMIM:612653 semapv:UnspecifiedMatching +obo:GARD_15577 Cone-rod dystrophy 12 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15577 Cone-rod dystrophy 12 skos:exactMatch OMIM:612657 semapv:UnspecifiedMatching +obo:GARD_15578 Spherocytosis, type 5 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +obo:GARD_15578 Spherocytosis, type 5 skos:exactMatch OMIM:612690 semapv:UnspecifiedMatching +obo:GARD_15579 Agammaglobulinemia 6, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_15579 Agammaglobulinemia 6, autosomal recessive skos:exactMatch OMIM:612692 semapv:UnspecifiedMatching +obo:GARD_1558 Coxoauricular syndrome skos:exactMatch Orphanet:1508 semapv:UnspecifiedMatching +obo:GARD_1558 Coxoauricular syndrome skos:narrowMatch OMIM:122780 semapv:UnspecifiedMatching +obo:GARD_15580 Microcephaly 7, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15580 Microcephaly 7, primary, autosomal recessive skos:exactMatch OMIM:612703 semapv:UnspecifiedMatching +obo:GARD_15581 Dyschromatosis universalis hereditaria 2 skos:broadMatch Orphanet:241 semapv:UnspecifiedMatching +obo:GARD_15581 Dyschromatosis universalis hereditaria 2 skos:exactMatch OMIM:612715 semapv:UnspecifiedMatching +obo:GARD_15582 Cone-rod dystrophy 9 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15582 Cone-rod dystrophy 9 skos:exactMatch OMIM:612775 semapv:UnspecifiedMatching +obo:GARD_15583 Question mark ears, isolated skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +obo:GARD_15583 Question mark ears, isolated skos:exactMatch OMIM:612798 semapv:UnspecifiedMatching +obo:GARD_15584 Brugada syndrome 5 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_15584 Brugada syndrome 5 skos:exactMatch OMIM:612838 semapv:UnspecifiedMatching +obo:GARD_15585 Hypotrichosis 5 skos:broadMatch Orphanet:444 semapv:UnspecifiedMatching +obo:GARD_15585 Hypotrichosis 5 skos:exactMatch OMIM:612841 semapv:UnspecifiedMatching +obo:GARD_15586 Keratosis follicularis spinulosa decalvans, autosomal dominant skos:broadMatch Orphanet:2340 semapv:UnspecifiedMatching +obo:GARD_15586 Keratosis follicularis spinulosa decalvans, autosomal dominant skos:exactMatch OMIM:612843 semapv:UnspecifiedMatching +obo:GARD_15587 Narcolepsy 5, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15587 Narcolepsy 5, susceptibility to skos:exactMatch OMIM:612851 semapv:UnspecifiedMatching +obo:GARD_15588 Cardiomyopathy, dilated, 1bb skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15588 Cardiomyopathy, dilated, 1bb skos:exactMatch OMIM:612877 semapv:UnspecifiedMatching +obo:GARD_15589 Chromosome 5q14.3 deletion syndrome, distal skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_15589 Chromosome 5q14.3 deletion syndrome, distal skos:exactMatch OMIM:612881 semapv:UnspecifiedMatching +obo:GARD_15590 Keratosis palmoplantaris striata ii skos:broadMatch Orphanet:50942 semapv:UnspecifiedMatching +obo:GARD_15590 Keratosis palmoplantaris striata ii skos:exactMatch OMIM:612908 semapv:UnspecifiedMatching +obo:GARD_15591 Three m syndrome 2 skos:broadMatch Orphanet:2616 semapv:UnspecifiedMatching +obo:GARD_15591 Three m syndrome 2 skos:exactMatch OMIM:612921 semapv:UnspecifiedMatching +obo:GARD_15592 Spastic paraplegia 50, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +obo:GARD_15592 Spastic paraplegia 50, autosomal recessive skos:exactMatch OMIM:612936 semapv:UnspecifiedMatching +obo:GARD_15593 Retinitis pigmentosa 42 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15593 Retinitis pigmentosa 42 skos:exactMatch OMIM:612943 semapv:UnspecifiedMatching +obo:GARD_15595 Long qt syndrome 12 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_15595 Long qt syndrome 12 skos:exactMatch OMIM:612955 semapv:UnspecifiedMatching +obo:GARD_15596 Ventricular fibrillation, paroxysmal familial, 2 skos:broadMatch Orphanet:228140 semapv:UnspecifiedMatching +obo:GARD_15596 Ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch OMIM:612956 semapv:UnspecifiedMatching +obo:GARD_15597 Multiple synostoses syndrome 3 skos:broadMatch Orphanet:3237 semapv:UnspecifiedMatching +obo:GARD_15597 Multiple synostoses syndrome 3 skos:exactMatch OMIM:612961 semapv:UnspecifiedMatching +obo:GARD_15598 46,xy sex reversal 3 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_15598 46,xy sex reversal 3 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_15598 46,xy sex reversal 3 skos:exactMatch OMIM:612965 semapv:UnspecifiedMatching +obo:GARD_15599 Cataract 34, multiple types skos:broadMatch Orphanet:708 semapv:UnspecifiedMatching +obo:GARD_15599 Cataract 34, multiple types skos:exactMatch OMIM:612968 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:236670 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:253280 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:253800 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:613150 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:613153 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:613154 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:615181 semapv:UnspecifiedMatching +obo:GARD_156 Muscle-eye-brain disease skos:narrowMatch OMIM:615350 semapv:UnspecifiedMatching +obo:GARD_15600 Immunodeficiency 83, susceptibility to viral infections skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +obo:GARD_15600 Immunodeficiency 83, susceptibility to viral infections skos:exactMatch OMIM:613002 semapv:UnspecifiedMatching +obo:GARD_15601 Biliary cirrhosis, primary, 2 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +obo:GARD_15601 Biliary cirrhosis, primary, 2 skos:exactMatch OMIM:613007 semapv:UnspecifiedMatching +obo:GARD_15602 Biliary cirrhosis, primary, 3 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +obo:GARD_15602 Biliary cirrhosis, primary, 3 skos:exactMatch OMIM:613008 semapv:UnspecifiedMatching +obo:GARD_15603 Neuroblastoma, susceptibility to, 2 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_15603 Neuroblastoma, susceptibility to, 2 skos:exactMatch OMIM:613013 semapv:UnspecifiedMatching +obo:GARD_15604 Neuroblastoma, susceptibility to, 3 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_15604 Neuroblastoma, susceptibility to, 3 skos:exactMatch OMIM:613014 semapv:UnspecifiedMatching +obo:GARD_15605 Neuroblastoma, susceptibility to, 4 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_15605 Neuroblastoma, susceptibility to, 4 skos:exactMatch OMIM:613015 semapv:UnspecifiedMatching +obo:GARD_15606 Neuroblastoma, susceptibility to, 5 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_15606 Neuroblastoma, susceptibility to, 5 skos:exactMatch OMIM:613016 semapv:UnspecifiedMatching +obo:GARD_15607 Neuroblastoma, susceptibility to, 6 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_15607 Neuroblastoma, susceptibility to, 6 skos:exactMatch OMIM:613017 semapv:UnspecifiedMatching +obo:GARD_15608 Follicular lymphoma, susceptibility to, 1 skos:broadMatch Orphanet:545 semapv:UnspecifiedMatching +obo:GARD_15608 Follicular lymphoma, susceptibility to, 1 skos:exactMatch OMIM:613024 semapv:UnspecifiedMatching +obo:GARD_15609 Atrial fibrillation, familial, 8 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15609 Atrial fibrillation, familial, 8 skos:exactMatch OMIM:613055 semapv:UnspecifiedMatching +obo:GARD_1561 Crandall syndrome skos:exactMatch Orphanet:202 semapv:UnspecifiedMatching +obo:GARD_15610 Metaphyseal anadysplasia 2 skos:broadMatch Orphanet:1040 semapv:UnspecifiedMatching +obo:GARD_15610 Metaphyseal anadysplasia 2 skos:exactMatch OMIM:613073 semapv:UnspecifiedMatching +obo:GARD_15611 46,xy sex reversal 5 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_15611 46,xy sex reversal 5 skos:exactMatch OMIM:613080 semapv:UnspecifiedMatching +obo:GARD_15612 Bartter syndrome, type 4b, neonatal, with sensorineural deafness skos:broadMatch Orphanet:89938 semapv:UnspecifiedMatching +obo:GARD_15612 Bartter syndrome, type 4b, neonatal, with sensorineural deafness skos:exactMatch OMIM:613090 semapv:UnspecifiedMatching +obo:GARD_15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:broadMatch Orphanet:93269 semapv:UnspecifiedMatching +obo:GARD_15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +obo:GARD_15613 Short-rib thoracic dysplasia 3 with or without polydactyly skos:exactMatch OMIM:613091 semapv:UnspecifiedMatching +obo:GARD_15614 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +obo:GARD_15614 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch OMIM:613101 semapv:UnspecifiedMatching +obo:GARD_15615 Choroidal dystrophy, central areolar 2 skos:broadMatch Orphanet:75377 semapv:UnspecifiedMatching +obo:GARD_15615 Choroidal dystrophy, central areolar 2 skos:exactMatch OMIM:613105 semapv:UnspecifiedMatching +obo:GARD_15616 Neutropenia, severe congenital, 2, autosomal dominant skos:broadMatch Orphanet:486 semapv:UnspecifiedMatching +obo:GARD_15616 Neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch OMIM:613107 semapv:UnspecifiedMatching +obo:GARD_15617 Candidiasis, familial, 4 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15617 Candidiasis, familial, 4 skos:exactMatch OMIM:613108 semapv:UnspecifiedMatching +obo:GARD_15618 Neuropathy, hereditary sensory and autonomic, type iib skos:broadMatch Orphanet:970 semapv:UnspecifiedMatching +obo:GARD_15618 Neuropathy, hereditary sensory and autonomic, type iib skos:exactMatch OMIM:613115 semapv:UnspecifiedMatching +obo:GARD_15619 Brugada syndrome 6 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_15619 Brugada syndrome 6 skos:exactMatch OMIM:613119 semapv:UnspecifiedMatching +obo:GARD_15620 Brugada syndrome 7 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_15620 Brugada syndrome 7 skos:exactMatch OMIM:613120 semapv:UnspecifiedMatching +obo:GARD_15621 Cardiomyopathy, dilated, 1cc skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15621 Cardiomyopathy, dilated, 1cc skos:exactMatch OMIM:613122 semapv:UnspecifiedMatching +obo:GARD_15622 Brugada syndrome 8 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_15622 Brugada syndrome 8 skos:exactMatch OMIM:613123 semapv:UnspecifiedMatching +obo:GARD_15623 Choroidal dystrophy, central areolar, 3 skos:broadMatch Orphanet:75377 semapv:UnspecifiedMatching +obo:GARD_15623 Choroidal dystrophy, central areolar, 3 skos:exactMatch OMIM:613144 semapv:UnspecifiedMatching +obo:GARD_15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15624 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 skos:exactMatch OMIM:613150 semapv:UnspecifiedMatching +obo:GARD_15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15625 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 skos:exactMatch OMIM:613153 semapv:UnspecifiedMatching +obo:GARD_15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15626 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 skos:exactMatch OMIM:613154 semapv:UnspecifiedMatching +obo:GARD_15627 Cardiomyopathy, dilated, 1dd skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15627 Cardiomyopathy, dilated, 1dd skos:exactMatch OMIM:613172 semapv:UnspecifiedMatching +obo:GARD_15628 Ciliary dyskinesia, primary, 13 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15628 Ciliary dyskinesia, primary, 13 skos:exactMatch OMIM:613193 semapv:UnspecifiedMatching +obo:GARD_15629 Retinitis pigmentosa 50 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15629 Retinitis pigmentosa 50 skos:exactMatch OMIM:613194 semapv:UnspecifiedMatching +obo:GARD_15630 Amelogenesis imperfecta, hypomaturation type, iia3 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_15630 Amelogenesis imperfecta, hypomaturation type, iia3 skos:exactMatch OMIM:613211 semapv:UnspecifiedMatching +obo:GARD_15631 Night blindness, congenital stationary, type 1c skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15631 Night blindness, congenital stationary, type 1c skos:exactMatch OMIM:613216 semapv:UnspecifiedMatching +obo:GARD_15632 Leprosy, susceptibility to, 5 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +obo:GARD_15632 Leprosy, susceptibility to, 5 skos:exactMatch OMIM:613223 semapv:UnspecifiedMatching +obo:GARD_15633 Factor xiii, a subunit, deficiency of skos:broadMatch Orphanet:331 semapv:UnspecifiedMatching +obo:GARD_15633 Factor xiii, a subunit, deficiency of skos:exactMatch OMIM:613225 semapv:UnspecifiedMatching +obo:GARD_15634 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 skos:broadMatch Orphanet:1766 semapv:UnspecifiedMatching +obo:GARD_15634 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 skos:exactMatch OMIM:613227 semapv:UnspecifiedMatching +obo:GARD_15635 Factor xiii, b subunit, deficiency of skos:broadMatch Orphanet:331 semapv:UnspecifiedMatching +obo:GARD_15635 Factor xiii, b subunit, deficiency of skos:exactMatch OMIM:613235 semapv:UnspecifiedMatching +obo:GARD_15636 Focal segmental glomerulosclerosis 5 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15636 Focal segmental glomerulosclerosis 5 skos:exactMatch OMIM:613237 semapv:UnspecifiedMatching +obo:GARD_15637 Thyrotoxic periodic paralysis, susceptibility to, 2 skos:broadMatch Orphanet:79102 semapv:UnspecifiedMatching +obo:GARD_15637 Thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 semapv:UnspecifiedMatching +obo:GARD_15638 Colorectal cancer, hereditary nonpolyposis, type 8 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15638 Colorectal cancer, hereditary nonpolyposis, type 8 skos:exactMatch OMIM:613244 semapv:UnspecifiedMatching +obo:GARD_15639 Cardiomyopathy, dilated, 1ee skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15639 Cardiomyopathy, dilated, 1ee skos:exactMatch OMIM:613252 semapv:UnspecifiedMatching +obo:GARD_1564 Cranio-osteoarthropathy skos:exactMatch Orphanet:1525 semapv:UnspecifiedMatching +obo:GARD_1564 Cranio-osteoarthropathy skos:narrowMatch OMIM:259100 semapv:UnspecifiedMatching +obo:GARD_15640 Tuberous sclerosis 2 skos:broadMatch Orphanet:805 semapv:UnspecifiedMatching +obo:GARD_15640 Tuberous sclerosis 2 skos:exactMatch OMIM:613254 semapv:UnspecifiedMatching +obo:GARD_15641 Waardenburg syndrome, type 4b skos:broadMatch Orphanet:897 semapv:UnspecifiedMatching +obo:GARD_15641 Waardenburg syndrome, type 4b skos:exactMatch OMIM:613265 semapv:UnspecifiedMatching +obo:GARD_15642 Waardenburg syndrome, type 4c skos:broadMatch Orphanet:897 semapv:UnspecifiedMatching +obo:GARD_15642 Waardenburg syndrome, type 4c skos:exactMatch OMIM:613266 semapv:UnspecifiedMatching +obo:GARD_15643 Cardiomyopathy, dilated, 1ff skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15643 Cardiomyopathy, dilated, 1ff skos:exactMatch OMIM:613286 semapv:UnspecifiedMatching +obo:GARD_15644 Diamond-blackfan anemia 9 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15644 Diamond-blackfan anemia 9 skos:exactMatch OMIM:613308 semapv:UnspecifiedMatching +obo:GARD_15645 Diamond-blackfan anemia 10 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15645 Diamond-blackfan anemia 10 skos:exactMatch OMIM:613309 semapv:UnspecifiedMatching +obo:GARD_15646 Exudative vitreoretinopathy 5 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_15646 Exudative vitreoretinopathy 5 skos:exactMatch OMIM:613310 semapv:UnspecifiedMatching +obo:GARD_15647 Hemochromatosis, type 2b skos:broadMatch Orphanet:79230 semapv:UnspecifiedMatching +obo:GARD_15647 Hemochromatosis, type 2b skos:exactMatch OMIM:613313 semapv:UnspecifiedMatching +obo:GARD_15648 Miyoshi muscular dystrophy 2 skos:broadMatch Orphanet:45448 semapv:UnspecifiedMatching +obo:GARD_15648 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:613318 semapv:UnspecifiedMatching +obo:GARD_15649 Hypokalemic periodic paralysis, type 2 skos:broadMatch Orphanet:681 semapv:UnspecifiedMatching +obo:GARD_15649 Hypokalemic periodic paralysis, type 2 skos:exactMatch OMIM:613345 semapv:UnspecifiedMatching +obo:GARD_15650 Pancreatic cancer, susceptibility to, 2 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +obo:GARD_15650 Pancreatic cancer, susceptibility to, 2 skos:exactMatch OMIM:613347 semapv:UnspecifiedMatching +obo:GARD_15651 Pancreatic cancer, susceptibility to, 3 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +obo:GARD_15651 Pancreatic cancer, susceptibility to, 3 skos:exactMatch OMIM:613348 semapv:UnspecifiedMatching +obo:GARD_15652 Maturity-onset diabetes of the young, type 10 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_15652 Maturity-onset diabetes of the young, type 10 skos:exactMatch OMIM:613370 semapv:UnspecifiedMatching +obo:GARD_15653 Maturity-onset diabetes of the young, type 11 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_15653 Maturity-onset diabetes of the young, type 11 skos:exactMatch OMIM:613375 semapv:UnspecifiedMatching +obo:GARD_15654 Brachydactyly, type e2 skos:broadMatch Orphanet:93387 semapv:UnspecifiedMatching +obo:GARD_15654 Brachydactyly, type e2 skos:exactMatch OMIM:613382 semapv:UnspecifiedMatching +obo:GARD_15655 Fanconi renotubular syndrome 2 skos:broadMatch Orphanet:3337 semapv:UnspecifiedMatching +obo:GARD_15655 Fanconi renotubular syndrome 2 skos:exactMatch OMIM:613388 semapv:UnspecifiedMatching +obo:GARD_15656 Fanconi anemia, complementation group o skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15656 Fanconi anemia, complementation group o skos:exactMatch OMIM:613390 semapv:UnspecifiedMatching +obo:GARD_15657 Breast-ovarian cancer, familial, susceptibility to, 3 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +obo:GARD_15657 Breast-ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 semapv:UnspecifiedMatching +obo:GARD_15658 Arthrogryposis, renal dysfunction, and cholestasis 2 skos:broadMatch Orphanet:2697 semapv:UnspecifiedMatching +obo:GARD_15658 Arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch OMIM:613404 semapv:UnspecifiedMatching +obo:GARD_15659 Leprosy, susceptibility to, 6 skos:broadMatch Orphanet:548 semapv:UnspecifiedMatching +obo:GARD_15659 Leprosy, susceptibility to, 6 skos:exactMatch OMIM:613407 semapv:UnspecifiedMatching +obo:GARD_15660 Oguchi disease 2 skos:broadMatch Orphanet:75382 semapv:UnspecifiedMatching +obo:GARD_15660 Oguchi disease 2 skos:exactMatch OMIM:613411 semapv:UnspecifiedMatching +obo:GARD_15661 Cardiomyopathy, dilated, 1r skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15661 Cardiomyopathy, dilated, 1r skos:exactMatch OMIM:613424 semapv:UnspecifiedMatching +obo:GARD_15662 Retinitis pigmentosa 54 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15662 Retinitis pigmentosa 54 skos:exactMatch OMIM:613428 semapv:UnspecifiedMatching +obo:GARD_15663 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15663 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia skos:exactMatch OMIM:613435 semapv:UnspecifiedMatching +obo:GARD_15664 Rett syndrome, congenital variant skos:broadMatch Orphanet:3095 semapv:UnspecifiedMatching +obo:GARD_15664 Rett syndrome, congenital variant skos:exactMatch OMIM:613454 semapv:UnspecifiedMatching +obo:GARD_15665 Retinitis pigmentosa 51 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15665 Retinitis pigmentosa 51 skos:exactMatch OMIM:613464 semapv:UnspecifiedMatching +obo:GARD_15666 Long qt syndrome 13 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_15666 Long qt syndrome 13 skos:exactMatch OMIM:613485 semapv:UnspecifiedMatching +obo:GARD_15667 Myxoid liposarcoma skos:broadMatch Orphanet:99967 semapv:UnspecifiedMatching +obo:GARD_15667 Myxoid liposarcoma skos:exactMatch OMIM:613488 semapv:UnspecifiedMatching +obo:GARD_15668 Immunodeficiency, common variable, 3 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15668 Immunodeficiency, common variable, 3 skos:exactMatch OMIM:613493 semapv:UnspecifiedMatching +obo:GARD_15669 Immunodeficiency, common variable, 4 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15669 Immunodeficiency, common variable, 4 skos:exactMatch OMIM:613494 semapv:UnspecifiedMatching +obo:GARD_1567 Craniodiaphyseal dysplasia skos:exactMatch Orphanet:1513 semapv:UnspecifiedMatching +obo:GARD_1567 Craniodiaphyseal dysplasia skos:narrowMatch OMIM:122860 semapv:UnspecifiedMatching +obo:GARD_1567 Craniodiaphyseal dysplasia skos:narrowMatch OMIM:218300 semapv:UnspecifiedMatching +obo:GARD_15670 Immunodeficiency, common variable, 5 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15670 Immunodeficiency, common variable, 5 skos:exactMatch OMIM:613495 semapv:UnspecifiedMatching +obo:GARD_15671 Immunodeficiency, common variable, 6 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15671 Immunodeficiency, common variable, 6 skos:exactMatch OMIM:613496 semapv:UnspecifiedMatching +obo:GARD_15672 Agammaglobulinemia 2, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_15672 Agammaglobulinemia 2, autosomal recessive skos:exactMatch OMIM:613500 semapv:UnspecifiedMatching +obo:GARD_15673 Agammaglobulinemia 3, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_15673 Agammaglobulinemia 3, autosomal recessive skos:exactMatch OMIM:613501 semapv:UnspecifiedMatching +obo:GARD_15674 Agammaglobulinemia 4, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_15674 Agammaglobulinemia 4, autosomal recessive skos:exactMatch OMIM:613502 semapv:UnspecifiedMatching +obo:GARD_15675 Agammaglobulinemia 5, autosomal dominant skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_15675 Agammaglobulinemia 5, autosomal dominant skos:exactMatch OMIM:613506 semapv:UnspecifiedMatching +obo:GARD_15676 Myopathy, lactic acidosis, and sideroblastic anemia 2 skos:broadMatch Orphanet:2598 semapv:UnspecifiedMatching +obo:GARD_15676 Myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch OMIM:613561 semapv:UnspecifiedMatching +obo:GARD_15677 Retinitis pigmentosa 55 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15677 Retinitis pigmentosa 55 skos:exactMatch OMIM:613575 semapv:UnspecifiedMatching +obo:GARD_15678 Retinitis pigmentosa 56 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15678 Retinitis pigmentosa 56 skos:exactMatch OMIM:613581 semapv:UnspecifiedMatching +obo:GARD_15679 Retinitis pigmentosa 57 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15679 Retinitis pigmentosa 57 skos:exactMatch OMIM:613582 semapv:UnspecifiedMatching +obo:GARD_15680 Cranioectodermal dysplasia 2 skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +obo:GARD_15680 Cranioectodermal dysplasia 2 skos:exactMatch OMIM:613610 semapv:UnspecifiedMatching +obo:GARD_15681 Senior-loken syndrome 7 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_15681 Senior-loken syndrome 7 skos:exactMatch OMIM:613615 semapv:UnspecifiedMatching +obo:GARD_15682 Retinitis pigmentosa 58 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15682 Retinitis pigmentosa 58 skos:exactMatch OMIM:613617 semapv:UnspecifiedMatching +obo:GARD_15683 Neuropathy, hereditary sensory and autonomic, type ic skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +obo:GARD_15683 Neuropathy, hereditary sensory and autonomic, type ic skos:exactMatch OMIM:613640 semapv:UnspecifiedMatching +obo:GARD_15684 Cardiomyopathy, dilated, 1gg skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15684 Cardiomyopathy, dilated, 1gg skos:exactMatch OMIM:613642 semapv:UnspecifiedMatching +obo:GARD_15685 D-2-hydroxyglutaric aciduria 2 skos:broadMatch Orphanet:79315 semapv:UnspecifiedMatching +obo:GARD_15685 D-2-hydroxyglutaric aciduria 2 skos:exactMatch OMIM:613657 semapv:UnspecifiedMatching +obo:GARD_15686 Cone-rod dystrophy 15 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15686 Cone-rod dystrophy 15 skos:exactMatch OMIM:613660 semapv:UnspecifiedMatching +obo:GARD_15687 Seckel syndrome 4 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_15687 Seckel syndrome 4 skos:exactMatch OMIM:613676 semapv:UnspecifiedMatching +obo:GARD_15688 Chromosome 2q31.1 duplication syndrome skos:broadMatch Orphanet:1836 semapv:UnspecifiedMatching +obo:GARD_15688 Chromosome 2q31.1 duplication syndrome skos:exactMatch OMIM:613681 semapv:UnspecifiedMatching +obo:GARD_15689 Cardiomyopathy, dilated, 1u skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15689 Cardiomyopathy, dilated, 1u skos:exactMatch OMIM:613694 semapv:UnspecifiedMatching +obo:GARD_15690 Cardiomyopathy, dilated, 1v skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15690 Cardiomyopathy, dilated, 1v skos:exactMatch OMIM:613697 semapv:UnspecifiedMatching +obo:GARD_15691 Klippel-feil syndrome 3, autosomal dominant skos:broadMatch Orphanet:2345 semapv:UnspecifiedMatching +obo:GARD_15691 Klippel-feil syndrome 3, autosomal dominant skos:exactMatch OMIM:613702 semapv:UnspecifiedMatching +obo:GARD_15692 Microphthalmia, isolated, with coloboma 6 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15692 Microphthalmia, isolated, with coloboma 6 skos:exactMatch OMIM:613703 semapv:UnspecifiedMatching +obo:GARD_15693 Noonan syndrome 7 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_15693 Noonan syndrome 7 skos:exactMatch OMIM:613706 semapv:UnspecifiedMatching +obo:GARD_15694 Leopard syndrome 3 skos:broadMatch Orphanet:500 semapv:UnspecifiedMatching +obo:GARD_15694 Leopard syndrome 3 skos:exactMatch OMIM:613707 semapv:UnspecifiedMatching +obo:GARD_15695 Neuropathy, hereditary sensory, type id skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +obo:GARD_15695 Neuropathy, hereditary sensory, type id skos:exactMatch OMIM:613708 semapv:UnspecifiedMatching +obo:GARD_15696 Hirschsprung disease, susceptibility to, 3 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15696 Hirschsprung disease, susceptibility to, 3 skos:exactMatch OMIM:613711 semapv:UnspecifiedMatching +obo:GARD_15697 Hirschsprung disease, susceptibility to, 4 skos:broadMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_15697 Hirschsprung disease, susceptibility to, 4 skos:exactMatch OMIM:613712 semapv:UnspecifiedMatching +obo:GARD_15698 Treacher collins syndrome 2 skos:broadMatch Orphanet:861 semapv:UnspecifiedMatching +obo:GARD_15698 Treacher collins syndrome 2 skos:exactMatch OMIM:613717 semapv:UnspecifiedMatching +obo:GARD_15699 Developmental and epileptic encephalopathy 11 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_15699 Developmental and epileptic encephalopathy 11 skos:exactMatch OMIM:613721 semapv:UnspecifiedMatching +obo:GARD_157 Hirschsprung disease-deafness-polydactyly syndrome skos:exactMatch Orphanet:2155 semapv:UnspecifiedMatching +obo:GARD_157 Hirschsprung disease-deafness-polydactyly syndrome skos:narrowMatch OMIM:235740 semapv:UnspecifiedMatching +obo:GARD_15700 Retinitis pigmentosa 27 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15700 Retinitis pigmentosa 27 skos:exactMatch OMIM:613750 semapv:UnspecifiedMatching +obo:GARD_15701 Retinitis pigmentosa 49 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15701 Retinitis pigmentosa 49 skos:exactMatch OMIM:613756 semapv:UnspecifiedMatching +obo:GARD_15702 Retinitis pigmentosa 47 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15702 Retinitis pigmentosa 47 skos:exactMatch OMIM:613758 semapv:UnspecifiedMatching +obo:GARD_15703 46,xy sex reversal 6 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_15703 46,xy sex reversal 6 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_15703 46,xy sex reversal 6 skos:exactMatch OMIM:613762 semapv:UnspecifiedMatching +obo:GARD_15704 Retinitis pigmentosa 45 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15704 Retinitis pigmentosa 45 skos:exactMatch OMIM:613767 semapv:UnspecifiedMatching +obo:GARD_15705 Retinitis pigmentosa 44 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15705 Retinitis pigmentosa 44 skos:exactMatch OMIM:613769 semapv:UnspecifiedMatching +obo:GARD_15706 Aortic aneurysm, familial thoracic 7 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_15706 Aortic aneurysm, familial thoracic 7 skos:exactMatch OMIM:613780 semapv:UnspecifiedMatching +obo:GARD_15707 Complement component c1s deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_15707 Complement component c1s deficiency skos:exactMatch OMIM:613783 semapv:UnspecifiedMatching +obo:GARD_15708 Meier-gorlin syndrome 2 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_15708 Meier-gorlin syndrome 2 skos:exactMatch OMIM:613800 semapv:UnspecifiedMatching +obo:GARD_15709 Retinitis pigmentosa 40 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15709 Retinitis pigmentosa 40 skos:exactMatch OMIM:613801 semapv:UnspecifiedMatching +obo:GARD_1571 Craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 semapv:UnspecifiedMatching +obo:GARD_1571 Craniofacial-deafness-hand syndrome skos:narrowMatch OMIM:122880 semapv:UnspecifiedMatching +obo:GARD_15710 Meier-gorlin syndrome 3 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_15710 Meier-gorlin syndrome 3 skos:exactMatch OMIM:613803 semapv:UnspecifiedMatching +obo:GARD_15711 Meier-gorlin syndrome 4 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_15711 Meier-gorlin syndrome 4 skos:exactMatch OMIM:613804 semapv:UnspecifiedMatching +obo:GARD_15712 Meier-gorlin syndrome 5 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_15712 Meier-gorlin syndrome 5 skos:exactMatch OMIM:613805 semapv:UnspecifiedMatching +obo:GARD_15713 Ciliary dyskinesia, primary, 14 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15713 Ciliary dyskinesia, primary, 14 skos:exactMatch OMIM:613807 semapv:UnspecifiedMatching +obo:GARD_15714 Ciliary dyskinesia, primary, 15 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15714 Ciliary dyskinesia, primary, 15 skos:exactMatch OMIM:613808 semapv:UnspecifiedMatching +obo:GARD_15715 Retinitis pigmentosa 39 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15715 Retinitis pigmentosa 39 skos:exactMatch OMIM:613809 semapv:UnspecifiedMatching +obo:GARD_15716 Retinitis pigmentosa 43 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15716 Retinitis pigmentosa 43 skos:exactMatch OMIM:613810 semapv:UnspecifiedMatching +obo:GARD_15717 Pontocerebellar hypoplasia, type 2d skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +obo:GARD_15717 Pontocerebellar hypoplasia, type 2d skos:exactMatch OMIM:613811 semapv:UnspecifiedMatching +obo:GARD_15718 Short-rib thoracic dysplasia 4 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15718 Short-rib thoracic dysplasia 4 with or without polydactyly skos:exactMatch OMIM:613819 semapv:UnspecifiedMatching +obo:GARD_15719 Seckel syndrome 5 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_15719 Seckel syndrome 5 skos:exactMatch OMIM:613823 semapv:UnspecifiedMatching +obo:GARD_15720 Retinitis pigmentosa 48 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15720 Retinitis pigmentosa 48 skos:exactMatch OMIM:613827 semapv:UnspecifiedMatching +obo:GARD_15721 Night blindness, congenital stationary, type 1d skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15721 Night blindness, congenital stationary, type 1d skos:exactMatch OMIM:613830 semapv:UnspecifiedMatching +obo:GARD_15722 Osteogenesis imperfecta, type xii skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_15722 Osteogenesis imperfecta, type xii skos:exactMatch OMIM:613849 semapv:UnspecifiedMatching +obo:GARD_15723 Achromatopsia 4 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +obo:GARD_15723 Achromatopsia 4 skos:exactMatch OMIM:613856 semapv:UnspecifiedMatching +obo:GARD_15724 Retinitis pigmentosa 59 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15724 Retinitis pigmentosa 59 skos:exactMatch OMIM:613861 semapv:UnspecifiedMatching +obo:GARD_15725 Retinitis pigmentosa 38 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15725 Retinitis pigmentosa 38 skos:exactMatch OMIM:613862 semapv:UnspecifiedMatching +obo:GARD_15726 Cardiomyopathy, dilated, 1hh skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15726 Cardiomyopathy, dilated, 1hh skos:exactMatch OMIM:613881 semapv:UnspecifiedMatching +obo:GARD_15727 Meckel syndrome, type 8 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15727 Meckel syndrome, type 8 skos:exactMatch OMIM:613885 semapv:UnspecifiedMatching +obo:GARD_15728 Megalencephalic leukoencephalopathy with subcortical cysts 2a skos:broadMatch Orphanet:2478 semapv:UnspecifiedMatching +obo:GARD_15728 Megalencephalic leukoencephalopathy with subcortical cysts 2a skos:exactMatch OMIM:613925 semapv:UnspecifiedMatching +obo:GARD_15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation skos:broadMatch Orphanet:210548 semapv:UnspecifiedMatching +obo:GARD_15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation skos:broadMatch Orphanet:2478 semapv:UnspecifiedMatching +obo:GARD_15729 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation skos:exactMatch OMIM:613926 semapv:UnspecifiedMatching +obo:GARD_15730 Alopecia-intellectual disability syndrome 3 skos:broadMatch Orphanet:2850 semapv:UnspecifiedMatching +obo:GARD_15730 Alopecia-intellectual disability syndrome 3 skos:exactMatch OMIM:613930 semapv:UnspecifiedMatching +obo:GARD_15731 Fanconi anemia, complementation group p skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15731 Fanconi anemia, complementation group p skos:exactMatch OMIM:613951 semapv:UnspecifiedMatching +obo:GARD_15732 Immunodeficiency 51 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15732 Immunodeficiency 51 skos:exactMatch OMIM:613953 semapv:UnspecifiedMatching +obo:GARD_15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15733 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 semapv:UnspecifiedMatching +obo:GARD_15734 Spermatogenic failure 8 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15734 Spermatogenic failure 8 skos:exactMatch OMIM:613957 semapv:UnspecifiedMatching +obo:GARD_15735 Spermatogenic failure 9 skos:broadMatch Orphanet:171709 semapv:UnspecifiedMatching +obo:GARD_15735 Spermatogenic failure 9 skos:exactMatch OMIM:613958 semapv:UnspecifiedMatching +obo:GARD_15736 Granulomatous disease, chronic, autosomal recessive, 3 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_15736 Granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch OMIM:613960 semapv:UnspecifiedMatching +obo:GARD_15737 Atrial fibrillation, familial, 9 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15737 Atrial fibrillation, familial, 9 skos:exactMatch OMIM:613980 semapv:UnspecifiedMatching +obo:GARD_15738 Retinitis pigmentosa 60 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15738 Retinitis pigmentosa 60 skos:exactMatch OMIM:613983 semapv:UnspecifiedMatching +obo:GARD_15739 Dyskeratosis congenita, autosomal recessive 2 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_15739 Dyskeratosis congenita, autosomal recessive 2 skos:exactMatch OMIM:613987 semapv:UnspecifiedMatching +obo:GARD_15740 Dyskeratosis congenita, autosomal recessive 3 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_15740 Dyskeratosis congenita, autosomal recessive 3 skos:exactMatch OMIM:613988 semapv:UnspecifiedMatching +obo:GARD_15741 Dyskeratosis congenita, autosomal dominant 2 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_15741 Dyskeratosis congenita, autosomal dominant 2 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +obo:GARD_15741 Dyskeratosis congenita, autosomal dominant 2 skos:exactMatch OMIM:613989 semapv:UnspecifiedMatching +obo:GARD_15742 Dyskeratosis congenita, autosomal dominant 3 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_15742 Dyskeratosis congenita, autosomal dominant 3 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +obo:GARD_15742 Dyskeratosis congenita, autosomal dominant 3 skos:exactMatch OMIM:613990 semapv:UnspecifiedMatching +obo:GARD_15743 Ciliary dyskinesia, primary, 16 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15743 Ciliary dyskinesia, primary, 16 skos:exactMatch OMIM:614017 semapv:UnspecifiedMatching +obo:GARD_15744 Ventricular tachycardia, catecholaminergic polymorphic, 3 skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +obo:GARD_15744 Ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch OMIM:614021 semapv:UnspecifiedMatching +obo:GARD_15745 Atrial fibrillation, familial, 10 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15745 Atrial fibrillation, familial, 10 skos:exactMatch OMIM:614022 semapv:UnspecifiedMatching +obo:GARD_15746 Moyamoya disease 5 skos:broadMatch Orphanet:2573 semapv:UnspecifiedMatching +obo:GARD_15746 Moyamoya disease 5 skos:exactMatch OMIM:614042 semapv:UnspecifiedMatching +obo:GARD_15747 Atrial fibrillation, familial, 11 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15747 Atrial fibrillation, familial, 11 skos:exactMatch OMIM:614049 semapv:UnspecifiedMatching +obo:GARD_15748 Atrial fibrillation, familial, 12 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15748 Atrial fibrillation, familial, 12 skos:exactMatch OMIM:614050 semapv:UnspecifiedMatching +obo:GARD_15749 Spastic paraplegia 47, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +obo:GARD_15749 Spastic paraplegia 47, autosomal recessive skos:exactMatch OMIM:614066 semapv:UnspecifiedMatching +obo:GARD_1575 Non-syndromic bilambdoid and sagittal craniosynostosis skos:exactMatch Orphanet:1516 semapv:UnspecifiedMatching +obo:GARD_1575 Non-syndromic bilambdoid and sagittal craniosynostosis skos:narrowMatch OMIM:218350 semapv:UnspecifiedMatching +obo:GARD_15750 Spastic paraplegia 52, autosomal recessive skos:broadMatch Orphanet:280763 semapv:UnspecifiedMatching +obo:GARD_15750 Spastic paraplegia 52, autosomal recessive skos:exactMatch OMIM:614067 semapv:UnspecifiedMatching +obo:GARD_15751 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +obo:GARD_15751 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch OMIM:614069 semapv:UnspecifiedMatching +obo:GARD_15752 Aspergillosis, susceptibility to skos:broadMatch Orphanet:1163 semapv:UnspecifiedMatching +obo:GARD_15752 Aspergillosis, susceptibility to skos:exactMatch OMIM:614079 semapv:UnspecifiedMatching +obo:GARD_15753 Fanconi anemia, complementation group g skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15753 Fanconi anemia, complementation group g skos:exactMatch OMIM:614082 semapv:UnspecifiedMatching +obo:GARD_15754 Fanconi anemia, complementation group l skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15754 Fanconi anemia, complementation group l skos:exactMatch OMIM:614083 semapv:UnspecifiedMatching +obo:GARD_15755 Atrial septal defect 3 skos:broadMatch Orphanet:99103 semapv:UnspecifiedMatching +obo:GARD_15755 Atrial septal defect 3 skos:exactMatch OMIM:614089 semapv:UnspecifiedMatching +obo:GARD_15756 Short-rib thoracic dysplasia 7 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +obo:GARD_15756 Short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch OMIM:614091 semapv:UnspecifiedMatching +obo:GARD_15757 Cranioectodermal dysplasia 3 skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +obo:GARD_15757 Cranioectodermal dysplasia 3 skos:exactMatch OMIM:614099 semapv:UnspecifiedMatching +obo:GARD_15758 Mosaic variegated aneuploidy syndrome 2 skos:broadMatch Orphanet:1052 semapv:UnspecifiedMatching +obo:GARD_15758 Mosaic variegated aneuploidy syndrome 2 skos:exactMatch OMIM:614114 semapv:UnspecifiedMatching +obo:GARD_15759 Hydrolethalus syndrome 2 skos:broadMatch Orphanet:2189 semapv:UnspecifiedMatching +obo:GARD_15759 Hydrolethalus syndrome 2 skos:exactMatch OMIM:614120 semapv:UnspecifiedMatching +obo:GARD_15760 Perrault syndrome 3 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +obo:GARD_15760 Perrault syndrome 3 skos:exactMatch OMIM:614129 semapv:UnspecifiedMatching +obo:GARD_15761 Focal segmental glomerulosclerosis 6 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15761 Focal segmental glomerulosclerosis 6 skos:exactMatch OMIM:614131 semapv:UnspecifiedMatching +obo:GARD_15762 Nail disorder, nonsyndromic congenital, 9 skos:broadMatch Orphanet:90390 semapv:UnspecifiedMatching +obo:GARD_15762 Nail disorder, nonsyndromic congenital, 9 skos:exactMatch OMIM:614149 semapv:UnspecifiedMatching +obo:GARD_15763 Paragangliomas 5 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_15763 Paragangliomas 5 skos:exactMatch OMIM:614165 semapv:UnspecifiedMatching +obo:GARD_15764 Brittle cornea syndrome 2 skos:broadMatch Orphanet:90354 semapv:UnspecifiedMatching +obo:GARD_15764 Brittle cornea syndrome 2 skos:exactMatch OMIM:614170 semapv:UnspecifiedMatching +obo:GARD_15765 Joubert syndrome 13 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15765 Joubert syndrome 13 skos:exactMatch OMIM:614173 semapv:UnspecifiedMatching +obo:GARD_15766 Retinitis pigmentosa 61 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15766 Retinitis pigmentosa 61 skos:exactMatch OMIM:614180 semapv:UnspecifiedMatching +obo:GARD_15767 Retinitis pigmentosa 62 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15767 Retinitis pigmentosa 62 skos:exactMatch OMIM:614181 semapv:UnspecifiedMatching +obo:GARD_15768 Geleophysic dysplasia 2 skos:broadMatch Orphanet:2623 semapv:UnspecifiedMatching +obo:GARD_15768 Geleophysic dysplasia 2 skos:exactMatch OMIM:614185 semapv:UnspecifiedMatching +obo:GARD_15769 Pigmented nodular adrenocortical disease, primary, 3 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +obo:GARD_15769 Pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch OMIM:614190 semapv:UnspecifiedMatching +obo:GARD_15770 Nephrotic syndrome, type 6 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15770 Nephrotic syndrome, type 6 skos:exactMatch OMIM:614196 semapv:UnspecifiedMatching +obo:GARD_15771 Myasthenic syndrome, congenital, 16 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15771 Myasthenic syndrome, congenital, 16 skos:exactMatch OMIM:614198 semapv:UnspecifiedMatching +obo:GARD_15772 Three m syndrome 3 skos:broadMatch Orphanet:2616 semapv:UnspecifiedMatching +obo:GARD_15772 Three m syndrome 3 skos:exactMatch OMIM:614205 semapv:UnspecifiedMatching +obo:GARD_15773 Meckel syndrome, type 9 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15773 Meckel syndrome, type 9 skos:exactMatch OMIM:614209 semapv:UnspecifiedMatching +obo:GARD_15774 Neuropathy, hereditary sensory, type iic skos:broadMatch Orphanet:970 semapv:UnspecifiedMatching +obo:GARD_15774 Neuropathy, hereditary sensory, type iic skos:exactMatch OMIM:614213 semapv:UnspecifiedMatching +obo:GARD_15775 Adams-oliver syndrome 2 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +obo:GARD_15775 Adams-oliver syndrome 2 skos:exactMatch OMIM:614219 semapv:UnspecifiedMatching +obo:GARD_15776 Biliary cirrhosis, primary, 4 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +obo:GARD_15776 Biliary cirrhosis, primary, 4 skos:exactMatch OMIM:614220 semapv:UnspecifiedMatching +obo:GARD_15777 Biliary cirrhosis, primary, 5 skos:broadMatch Orphanet:186 semapv:UnspecifiedMatching +obo:GARD_15777 Biliary cirrhosis, primary, 5 skos:exactMatch OMIM:614221 semapv:UnspecifiedMatching +obo:GARD_15778 Warburg micro syndrome 3 skos:broadMatch Orphanet:2510 semapv:UnspecifiedMatching +obo:GARD_15778 Warburg micro syndrome 3 skos:exactMatch OMIM:614222 semapv:UnspecifiedMatching +obo:GARD_15779 Narcolepsy 6, susceptibility to skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15779 Narcolepsy 6, susceptibility to skos:exactMatch OMIM:614223 semapv:UnspecifiedMatching +obo:GARD_1578 Craniofrontonasal dysplasia skos:exactMatch Orphanet:1520 semapv:UnspecifiedMatching +obo:GARD_1578 Craniofrontonasal dysplasia skos:narrowMatch OMIM:304110 semapv:UnspecifiedMatching +obo:GARD_15780 Warburg micro syndrome 2 skos:broadMatch Orphanet:2510 semapv:UnspecifiedMatching +obo:GARD_15780 Warburg micro syndrome 2 skos:exactMatch OMIM:614225 semapv:UnspecifiedMatching +obo:GARD_15781 Hypotrichosis 9 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_15781 Hypotrichosis 9 skos:exactMatch OMIM:614237 semapv:UnspecifiedMatching +obo:GARD_15782 Hypotrichosis 10 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_15782 Hypotrichosis 10 skos:exactMatch OMIM:614238 semapv:UnspecifiedMatching +obo:GARD_15783 Narcolepsy 7 skos:broadMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_15783 Narcolepsy 7 skos:exactMatch OMIM:614250 semapv:UnspecifiedMatching +obo:GARD_15784 Epilepsy, juvenile myoclonic, susceptibility to, 9 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +obo:GARD_15784 Epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch OMIM:614280 semapv:UnspecifiedMatching +obo:GARD_15785 Breast-ovarian cancer, familial, susceptibility to, 4 skos:broadMatch Orphanet:145 semapv:UnspecifiedMatching +obo:GARD_15785 Breast-ovarian cancer, familial, susceptibility to, 4 skos:exactMatch OMIM:614291 semapv:UnspecifiedMatching +obo:GARD_15786 Sclerosteosis 2 skos:broadMatch Orphanet:3152 semapv:UnspecifiedMatching +obo:GARD_15786 Sclerosteosis 2 skos:exactMatch OMIM:614305 semapv:UnspecifiedMatching +obo:GARD_15787 Alpha-methylacyl-coa racemase deficiency skos:broadMatch Orphanet:79095 semapv:UnspecifiedMatching +obo:GARD_15787 Alpha-methylacyl-coa racemase deficiency skos:exactMatch OMIM:614307 semapv:UnspecifiedMatching +obo:GARD_15788 Pancreatic cancer, susceptibility to, 4 skos:broadMatch Orphanet:1333 semapv:UnspecifiedMatching +obo:GARD_15788 Pancreatic cancer, susceptibility to, 4 skos:exactMatch OMIM:614320 semapv:UnspecifiedMatching +obo:GARD_15789 Colorectal cancer, hereditary nonpolyposis, type 6 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15789 Colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch OMIM:614331 semapv:UnspecifiedMatching +obo:GARD_15790 Arthrogryposis, distal, type 1b skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +obo:GARD_15790 Arthrogryposis, distal, type 1b skos:exactMatch OMIM:614335 semapv:UnspecifiedMatching +obo:GARD_15791 Colorectal cancer, hereditary nonpolyposis, type 4 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15791 Colorectal cancer, hereditary nonpolyposis, type 4 skos:exactMatch OMIM:614337 semapv:UnspecifiedMatching +obo:GARD_15792 Colorectal cancer, hereditary nonpolyposis, type 5 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15792 Colorectal cancer, hereditary nonpolyposis, type 5 skos:exactMatch OMIM:614350 semapv:UnspecifiedMatching +obo:GARD_15793 Surfactant metabolism dysfunction, pulmonary, 5 skos:broadMatch Orphanet:264675 semapv:UnspecifiedMatching +obo:GARD_15793 Surfactant metabolism dysfunction, pulmonary, 5 skos:exactMatch OMIM:614370 semapv:UnspecifiedMatching +obo:GARD_15794 Amyotrophic lateral sclerosis 16, juvenile skos:broadMatch Orphanet:300605 semapv:UnspecifiedMatching +obo:GARD_15794 Amyotrophic lateral sclerosis 16, juvenile skos:exactMatch OMIM:614373 semapv:UnspecifiedMatching +obo:GARD_15795 Short-rib thoracic dysplasia 5 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15795 Short-rib thoracic dysplasia 5 with or without polydactyly skos:exactMatch OMIM:614376 semapv:UnspecifiedMatching +obo:GARD_15796 Cranioectodermal dysplasia 4 skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +obo:GARD_15796 Cranioectodermal dysplasia 4 skos:exactMatch OMIM:614378 semapv:UnspecifiedMatching +obo:GARD_15797 Complement component 4b deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_15797 Complement component 4b deficiency skos:exactMatch OMIM:614379 semapv:UnspecifiedMatching +obo:GARD_15798 Complement component 4a deficiency skos:broadMatch Orphanet:169147 semapv:UnspecifiedMatching +obo:GARD_15798 Complement component 4a deficiency skos:exactMatch OMIM:614380 semapv:UnspecifiedMatching +obo:GARD_15799 Colorectal cancer, hereditary nonpolyposis, type 7 skos:broadMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_15799 Colorectal cancer, hereditary nonpolyposis, type 7 skos:exactMatch OMIM:614385 semapv:UnspecifiedMatching +obo:GARD_158 Sarcosinemia skos:exactMatch Orphanet:3129 semapv:UnspecifiedMatching +obo:GARD_158 Sarcosinemia skos:narrowMatch OMIM:268900 semapv:UnspecifiedMatching +obo:GARD_15800 Cataract 37 skos:broadMatch Orphanet:98989 semapv:UnspecifiedMatching +obo:GARD_15800 Cataract 37 skos:exactMatch OMIM:614422 semapv:UnspecifiedMatching +obo:GARD_15801 Joubert syndrome 14 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +obo:GARD_15801 Joubert syndrome 14 skos:broadMatch Orphanet:220497 semapv:UnspecifiedMatching +obo:GARD_15801 Joubert syndrome 14 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +obo:GARD_15801 Joubert syndrome 14 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15801 Joubert syndrome 14 skos:exactMatch OMIM:614424 semapv:UnspecifiedMatching +obo:GARD_15802 Cutis laxa, autosomal dominant 2 skos:broadMatch Orphanet:90348 semapv:UnspecifiedMatching +obo:GARD_15802 Cutis laxa, autosomal dominant 2 skos:exactMatch OMIM:614434 semapv:UnspecifiedMatching +obo:GARD_15803 Hypoplastic left heart syndrome 2 skos:broadMatch Orphanet:2248 semapv:UnspecifiedMatching +obo:GARD_15803 Hypoplastic left heart syndrome 2 skos:exactMatch OMIM:614435 semapv:UnspecifiedMatching +obo:GARD_15804 Cutis laxa, autosomal recessive, type ib skos:broadMatch Orphanet:90349 semapv:UnspecifiedMatching +obo:GARD_15804 Cutis laxa, autosomal recessive, type ib skos:exactMatch OMIM:614437 semapv:UnspecifiedMatching +obo:GARD_15805 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:broadMatch Orphanet:2796 semapv:UnspecifiedMatching +obo:GARD_15805 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:exactMatch OMIM:614441 semapv:UnspecifiedMatching +obo:GARD_15806 Joubert syndrome 15 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +obo:GARD_15806 Joubert syndrome 15 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15806 Joubert syndrome 15 skos:exactMatch OMIM:614464 semapv:UnspecifiedMatching +obo:GARD_15807 Joubert syndrome 16 skos:broadMatch Orphanet:2318 semapv:UnspecifiedMatching +obo:GARD_15807 Joubert syndrome 16 skos:exactMatch OMIM:614465 semapv:UnspecifiedMatching +obo:GARD_15808 Brain small vessel disease 2 skos:broadMatch Orphanet:99810 semapv:UnspecifiedMatching +obo:GARD_15808 Brain small vessel disease 2 skos:exactMatch OMIM:614483 semapv:UnspecifiedMatching +obo:GARD_15809 Wiskott-aldrich syndrome 2 skos:broadMatch Orphanet:906 semapv:UnspecifiedMatching +obo:GARD_15809 Wiskott-aldrich syndrome 2 skos:exactMatch OMIM:614493 semapv:UnspecifiedMatching +obo:GARD_1581 Craniometaphyseal dysplasia, autosomal dominant skos:broadMatch Orphanet:1522 semapv:UnspecifiedMatching +obo:GARD_1581 Craniometaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:123000 semapv:UnspecifiedMatching +obo:GARD_15810 Retinitis pigmentosa 63 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15810 Retinitis pigmentosa 63 skos:exactMatch OMIM:614494 semapv:UnspecifiedMatching +obo:GARD_15811 Microphthalmia, isolated, with coloboma 7 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15811 Microphthalmia, isolated, with coloboma 7 skos:exactMatch OMIM:614497 semapv:UnspecifiedMatching +obo:GARD_15812 Cone-rod dystrophy 16 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15812 Cone-rod dystrophy 16 skos:exactMatch OMIM:614500 semapv:UnspecifiedMatching +obo:GARD_15813 Usher syndrome, type iiib skos:broadMatch Orphanet:231183 semapv:UnspecifiedMatching +obo:GARD_15813 Usher syndrome, type iiib skos:exactMatch OMIM:614504 semapv:UnspecifiedMatching +obo:GARD_15814 Mirror movements 2 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +obo:GARD_15814 Mirror movements 2 skos:exactMatch OMIM:614508 semapv:UnspecifiedMatching +obo:GARD_15815 Fibrochondrogenesis 2 skos:broadMatch Orphanet:2021 semapv:UnspecifiedMatching +obo:GARD_15815 Fibrochondrogenesis 2 skos:exactMatch OMIM:614524 semapv:UnspecifiedMatching +obo:GARD_15816 Night blindness, congenital stationary, type 1e skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15816 Night blindness, congenital stationary, type 1e skos:exactMatch OMIM:614565 semapv:UnspecifiedMatching +obo:GARD_15817 Baraitser-winter syndrome 2 skos:broadMatch Orphanet:2995 semapv:UnspecifiedMatching +obo:GARD_15817 Baraitser-winter syndrome 2 skos:exactMatch OMIM:614583 semapv:UnspecifiedMatching +obo:GARD_15818 Olmsted syndrome 1 skos:broadMatch Orphanet:659 semapv:UnspecifiedMatching +obo:GARD_15818 Olmsted syndrome 1 skos:exactMatch OMIM:614594 semapv:UnspecifiedMatching +obo:GARD_15819 Trichohepatoenteric syndrome 2 skos:broadMatch Orphanet:84064 semapv:UnspecifiedMatching +obo:GARD_15819 Trichohepatoenteric syndrome 2 skos:exactMatch OMIM:614602 semapv:UnspecifiedMatching +obo:GARD_1582 Craniometaphyseal dysplasia, autosomal recessive skos:broadMatch Orphanet:1522 semapv:UnspecifiedMatching +obo:GARD_1582 Craniometaphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:218400 semapv:UnspecifiedMatching +obo:GARD_15820 Coffin-siris syndrome 2 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_15820 Coffin-siris syndrome 2 skos:exactMatch OMIM:614607 semapv:UnspecifiedMatching +obo:GARD_15821 Coffin-siris syndrome 3 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_15821 Coffin-siris syndrome 3 skos:exactMatch OMIM:614608 semapv:UnspecifiedMatching +obo:GARD_15822 Coffin-siris syndrome 4 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_15822 Coffin-siris syndrome 4 skos:exactMatch OMIM:614609 semapv:UnspecifiedMatching +obo:GARD_15823 Acrodysostosis 2 with or without hormone resistance skos:broadMatch Orphanet:280651 semapv:UnspecifiedMatching +obo:GARD_15823 Acrodysostosis 2 with or without hormone resistance skos:broadMatch Orphanet:950 semapv:UnspecifiedMatching +obo:GARD_15823 Acrodysostosis 2 with or without hormone resistance skos:exactMatch OMIM:614613 semapv:UnspecifiedMatching +obo:GARD_15824 Joubert syndrome 17 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15824 Joubert syndrome 17 skos:exactMatch OMIM:614615 semapv:UnspecifiedMatching +obo:GARD_15825 Hyperekplexia 3 skos:broadMatch Orphanet:3197 semapv:UnspecifiedMatching +obo:GARD_15825 Hyperekplexia 3 skos:exactMatch OMIM:614618 semapv:UnspecifiedMatching +obo:GARD_15826 Hyperekplexia 2 skos:broadMatch Orphanet:3197 semapv:UnspecifiedMatching +obo:GARD_15826 Hyperekplexia 2 skos:exactMatch OMIM:614619 semapv:UnspecifiedMatching +obo:GARD_15827 Uv-sensitive syndrome 2 skos:broadMatch Orphanet:178338 semapv:UnspecifiedMatching +obo:GARD_15827 Uv-sensitive syndrome 2 skos:exactMatch OMIM:614621 semapv:UnspecifiedMatching +obo:GARD_15828 Uv-sensitive syndrome 3 skos:broadMatch Orphanet:178338 semapv:UnspecifiedMatching +obo:GARD_15828 Uv-sensitive syndrome 3 skos:exactMatch OMIM:614640 semapv:UnspecifiedMatching +obo:GARD_15829 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15829 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:exactMatch OMIM:614643 semapv:UnspecifiedMatching +obo:GARD_1583 Craniomicromelic syndrome skos:exactMatch Orphanet:1524 semapv:UnspecifiedMatching +obo:GARD_1583 Craniomicromelic syndrome skos:narrowMatch OMIM:602558 semapv:UnspecifiedMatching +obo:GARD_15830 Cortisone reductase deficiency 2 skos:broadMatch Orphanet:168588 semapv:UnspecifiedMatching +obo:GARD_15830 Cortisone reductase deficiency 2 skos:exactMatch OMIM:614662 semapv:UnspecifiedMatching +obo:GARD_15831 Auriculocondylar syndrome 2 skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +obo:GARD_15831 Auriculocondylar syndrome 2 skos:exactMatch OMIM:614669 semapv:UnspecifiedMatching +obo:GARD_15832 Cardiomyopathy, dilated, 2b skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15832 Cardiomyopathy, dilated, 2b skos:exactMatch OMIM:614672 semapv:UnspecifiedMatching +obo:GARD_15833 Microcephaly 8, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15833 Microcephaly 8, primary, autosomal recessive skos:exactMatch OMIM:614673 semapv:UnspecifiedMatching +obo:GARD_15834 Pontocerebellar hypoplasia, type 1b skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_15834 Pontocerebellar hypoplasia, type 1b skos:exactMatch OMIM:614678 semapv:UnspecifiedMatching +obo:GARD_15835 Ciliary dyskinesia, primary, 17 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15835 Ciliary dyskinesia, primary, 17 skos:exactMatch OMIM:614679 semapv:UnspecifiedMatching +obo:GARD_15836 Immunodeficiency, common variable, 7 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15836 Immunodeficiency, common variable, 7 skos:exactMatch OMIM:614699 semapv:UnspecifiedMatching +obo:GARD_15837 Cornelia de lange syndrome 4 with or without midline brain defects skos:broadMatch Orphanet:199 semapv:UnspecifiedMatching +obo:GARD_15837 Cornelia de lange syndrome 4 with or without midline brain defects skos:exactMatch OMIM:614701 semapv:UnspecifiedMatching +obo:GARD_15838 Porokeratosis 7, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_15838 Porokeratosis 7, multiple types skos:exactMatch OMIM:614714 semapv:UnspecifiedMatching +obo:GARD_15839 Prostate cancer, hereditary, 2 skos:broadMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_15839 Prostate cancer, hereditary, 2 skos:exactMatch OMIM:614731 semapv:UnspecifiedMatching +obo:GARD_15840 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +obo:GARD_15840 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency skos:exactMatch OMIM:614736 semapv:UnspecifiedMatching +obo:GARD_15841 Amyotrophic lateral sclerosis 18 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15841 Amyotrophic lateral sclerosis 18 skos:exactMatch OMIM:614808 semapv:UnspecifiedMatching +obo:GARD_15842 Adams-oliver syndrome 3 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +obo:GARD_15842 Adams-oliver syndrome 3 skos:exactMatch OMIM:614814 semapv:UnspecifiedMatching +obo:GARD_15843 Joubert syndrome 18 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +obo:GARD_15843 Joubert syndrome 18 skos:exactMatch OMIM:614815 semapv:UnspecifiedMatching +obo:GARD_15844 Weill-marchesani syndrome 3 skos:broadMatch Orphanet:3449 semapv:UnspecifiedMatching +obo:GARD_15844 Weill-marchesani syndrome 3 skos:exactMatch OMIM:614819 semapv:UnspecifiedMatching +obo:GARD_15845 Alternating hemiplegia of childhood 2 skos:broadMatch Orphanet:2131 semapv:UnspecifiedMatching +obo:GARD_15845 Alternating hemiplegia of childhood 2 skos:exactMatch OMIM:614820 semapv:UnspecifiedMatching +obo:GARD_15846 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15846 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:exactMatch OMIM:614830 semapv:UnspecifiedMatching +obo:GARD_15847 Amelogenesis imperfecta, hypomaturation type, iia4 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_15847 Amelogenesis imperfecta, hypomaturation type, iia4 skos:exactMatch OMIM:614832 semapv:UnspecifiedMatching +obo:GARD_15848 Thyrotoxic periodic paralysis, susceptibility to, 3 skos:broadMatch Orphanet:79102 semapv:UnspecifiedMatching +obo:GARD_15848 Thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch OMIM:614834 semapv:UnspecifiedMatching +obo:GARD_15849 Hypogonadotropic hypogonadism 8 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15849 Hypogonadotropic hypogonadism 8 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15849 Hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch OMIM:614837 semapv:UnspecifiedMatching +obo:GARD_15850 Hypogonadotropic hypogonadism 9 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15850 Hypogonadotropic hypogonadism 9 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15850 Hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch OMIM:614838 semapv:UnspecifiedMatching +obo:GARD_15851 Hypogonadotropic hypogonadism 11 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15851 Hypogonadotropic hypogonadism 11 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15851 Hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch OMIM:614840 semapv:UnspecifiedMatching +obo:GARD_15852 Nephronophthisis 15 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_15852 Nephronophthisis 15 skos:exactMatch OMIM:614845 semapv:UnspecifiedMatching +obo:GARD_15853 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +obo:GARD_15853 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 skos:exactMatch OMIM:614849 semapv:UnspecifiedMatching +obo:GARD_15854 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +obo:GARD_15854 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 skos:exactMatch OMIM:614850 semapv:UnspecifiedMatching +obo:GARD_15855 Microcephaly 9, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_15855 Microcephaly 9, primary, autosomal recessive skos:exactMatch OMIM:614852 semapv:UnspecifiedMatching +obo:GARD_15856 Osteogenesis imperfecta, type xiii skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_15856 Osteogenesis imperfecta, type xiii skos:exactMatch OMIM:614856 semapv:UnspecifiedMatching +obo:GARD_15857 Hypogonadotropic hypogonadism 14 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15857 Hypogonadotropic hypogonadism 14 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15857 Hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch OMIM:614858 semapv:UnspecifiedMatching +obo:GARD_15858 Peroxisome biogenesis disorder 3a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15858 Peroxisome biogenesis disorder 3a (zellweger) skos:exactMatch OMIM:614859 semapv:UnspecifiedMatching +obo:GARD_15859 Peroxisome biogenesis disorder 4a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15859 Peroxisome biogenesis disorder 4a (zellweger) skos:exactMatch OMIM:614862 semapv:UnspecifiedMatching +obo:GARD_15860 Peroxisome biogenesis disorder 4b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15860 Peroxisome biogenesis disorder 4b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15860 Peroxisome biogenesis disorder 4b skos:exactMatch OMIM:614863 semapv:UnspecifiedMatching +obo:GARD_15861 Peroxisome biogenesis disorder 5a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15861 Peroxisome biogenesis disorder 5a (zellweger) skos:exactMatch OMIM:614866 semapv:UnspecifiedMatching +obo:GARD_15862 Peroxisome biogenesis disorder 5b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15862 Peroxisome biogenesis disorder 5b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15862 Peroxisome biogenesis disorder 5b skos:exactMatch OMIM:614867 semapv:UnspecifiedMatching +obo:GARD_15863 Usher syndrome, type ij skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_15863 Usher syndrome, type ij skos:exactMatch OMIM:614869 semapv:UnspecifiedMatching +obo:GARD_15864 Peroxisome biogenesis disorder 6a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15864 Peroxisome biogenesis disorder 6a (zellweger) skos:exactMatch OMIM:614870 semapv:UnspecifiedMatching +obo:GARD_15865 Peroxisome biogenesis disorder 6b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15865 Peroxisome biogenesis disorder 6b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15865 Peroxisome biogenesis disorder 6b skos:exactMatch OMIM:614871 semapv:UnspecifiedMatching +obo:GARD_15866 Peroxisome biogenesis disorder 7a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15866 Peroxisome biogenesis disorder 7a (zellweger) skos:exactMatch OMIM:614872 semapv:UnspecifiedMatching +obo:GARD_15867 Peroxisome biogenesis disorder 7b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15867 Peroxisome biogenesis disorder 7b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15867 Peroxisome biogenesis disorder 7b skos:exactMatch OMIM:614873 semapv:UnspecifiedMatching +obo:GARD_15868 Ciliary dyskinesia, primary, 18 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15868 Ciliary dyskinesia, primary, 18 skos:exactMatch OMIM:614874 semapv:UnspecifiedMatching +obo:GARD_15869 Peroxisome biogenesis disorder 8a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15869 Peroxisome biogenesis disorder 8a (zellweger) skos:exactMatch OMIM:614876 semapv:UnspecifiedMatching +obo:GARD_15870 Peroxisome biogenesis disorder 8b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15870 Peroxisome biogenesis disorder 8b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15870 Peroxisome biogenesis disorder 8b skos:exactMatch OMIM:614877 semapv:UnspecifiedMatching +obo:GARD_15871 Peroxisome biogenesis disorder 9b skos:broadMatch Orphanet:773 semapv:UnspecifiedMatching +obo:GARD_15871 Peroxisome biogenesis disorder 9b skos:exactMatch OMIM:614879 semapv:UnspecifiedMatching +obo:GARD_15872 Hypogonadotropic hypogonadism 15 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15872 Hypogonadotropic hypogonadism 15 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15872 Hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch OMIM:614880 semapv:UnspecifiedMatching +obo:GARD_15873 Peroxisome biogenesis disorder 10a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15873 Peroxisome biogenesis disorder 10a (zellweger) skos:exactMatch OMIM:614882 semapv:UnspecifiedMatching +obo:GARD_15874 Peroxisome biogenesis disorder 11a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15874 Peroxisome biogenesis disorder 11a (zellweger) skos:exactMatch OMIM:614883 semapv:UnspecifiedMatching +obo:GARD_15875 Peroxisome biogenesis disorder 11b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15875 Peroxisome biogenesis disorder 11b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15875 Peroxisome biogenesis disorder 11b skos:exactMatch OMIM:614885 semapv:UnspecifiedMatching +obo:GARD_15876 Peroxisome biogenesis disorder 12a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15876 Peroxisome biogenesis disorder 12a (zellweger) skos:exactMatch OMIM:614886 semapv:UnspecifiedMatching +obo:GARD_15877 Peroxisome biogenesis disorder 13a (zellweger) skos:broadMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_15877 Peroxisome biogenesis disorder 13a (zellweger) skos:exactMatch OMIM:614887 semapv:UnspecifiedMatching +obo:GARD_15878 Hypogonadotropic hypogonadism 16 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15878 Hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch OMIM:614897 semapv:UnspecifiedMatching +obo:GARD_15879 Diamond-blackfan anemia 11 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15879 Diamond-blackfan anemia 11 skos:exactMatch OMIM:614900 semapv:UnspecifiedMatching +obo:GARD_15880 Ventricular tachycardia, catecholaminergic polymorphic, 4 skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +obo:GARD_15880 Ventricular tachycardia, catecholaminergic polymorphic, 4 skos:exactMatch OMIM:614916 semapv:UnspecifiedMatching +obo:GARD_15881 Peroxisome biogenesis disorder 14b skos:broadMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_15881 Peroxisome biogenesis disorder 14b skos:broadMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_15881 Peroxisome biogenesis disorder 14b skos:exactMatch OMIM:614920 semapv:UnspecifiedMatching +obo:GARD_15882 Perrault syndrome 2 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +obo:GARD_15882 Perrault syndrome 2 skos:exactMatch OMIM:614926 semapv:UnspecifiedMatching +obo:GARD_15883 Ciliary dyskinesia, primary, 19 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15883 Ciliary dyskinesia, primary, 19 skos:exactMatch OMIM:614935 semapv:UnspecifiedMatching +obo:GARD_15884 Palmoplantar keratoderma, punctate type ib skos:broadMatch Orphanet:79501 semapv:UnspecifiedMatching +obo:GARD_15884 Palmoplantar keratoderma, punctate type ib skos:exactMatch OMIM:614936 semapv:UnspecifiedMatching +obo:GARD_15885 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive skos:broadMatch Orphanet:248 semapv:UnspecifiedMatching +obo:GARD_15885 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive skos:exactMatch OMIM:614941 semapv:UnspecifiedMatching +obo:GARD_15886 Developmental and epileptic encephalopathy 14 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +obo:GARD_15886 Developmental and epileptic encephalopathy 14 skos:exactMatch OMIM:614959 semapv:UnspecifiedMatching +obo:GARD_15887 Joubert syndrome 20 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +obo:GARD_15887 Joubert syndrome 20 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15887 Joubert syndrome 20 skos:exactMatch OMIM:614970 semapv:UnspecifiedMatching +obo:GARD_15888 Cholestasis, intrahepatic, of pregnancy 3 skos:broadMatch Orphanet:69665 semapv:UnspecifiedMatching +obo:GARD_15888 Cholestasis, intrahepatic, of pregnancy 3 skos:exactMatch OMIM:614972 semapv:UnspecifiedMatching +obo:GARD_15889 Carpenter syndrome 2 skos:broadMatch Orphanet:65759 semapv:UnspecifiedMatching +obo:GARD_15889 Carpenter syndrome 2 skos:exactMatch OMIM:614976 semapv:UnspecifiedMatching +obo:GARD_15890 Usher syndrome, type ik skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_15890 Usher syndrome, type ik skos:exactMatch OMIM:614990 semapv:UnspecifiedMatching +obo:GARD_15891 Epilepsy, nocturnal frontal lobe, 5 skos:broadMatch Orphanet:98784 semapv:UnspecifiedMatching +obo:GARD_15891 Epilepsy, nocturnal frontal lobe, 5 skos:exactMatch OMIM:615005 semapv:UnspecifiedMatching +obo:GARD_15892 Developmental and epileptic encephalopathy 15 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_15892 Developmental and epileptic encephalopathy 15 skos:exactMatch OMIM:615006 semapv:UnspecifiedMatching +obo:GARD_15893 Basal ganglia calcification, idiopathic, 4 skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +obo:GARD_15893 Basal ganglia calcification, idiopathic, 4 skos:exactMatch OMIM:615007 semapv:UnspecifiedMatching +obo:GARD_15894 Aicardi-goutieres syndrome 6 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_15894 Aicardi-goutieres syndrome 6 skos:exactMatch OMIM:615010 semapv:UnspecifiedMatching +obo:GARD_15895 Ichthyosis, congenital, autosomal recessive 7 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_15895 Ichthyosis, congenital, autosomal recessive 7 skos:exactMatch OMIM:615022 semapv:UnspecifiedMatching +obo:GARD_15896 Ichthyosis, congenital, autosomal recessive 9 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_15896 Ichthyosis, congenital, autosomal recessive 9 skos:exactMatch OMIM:615023 semapv:UnspecifiedMatching +obo:GARD_15897 Ichthyosis, congenital, autosomal recessive 10 skos:broadMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_15897 Ichthyosis, congenital, autosomal recessive 10 skos:exactMatch OMIM:615024 semapv:UnspecifiedMatching +obo:GARD_15898 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15898 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:exactMatch OMIM:615041 semapv:UnspecifiedMatching +obo:GARD_15899 Night blindness, congenital stationary, type 1f skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_15899 Night blindness, congenital stationary, type 1f skos:exactMatch OMIM:615058 semapv:UnspecifiedMatching +obo:GARD_159 Scalp-ear-nipple syndrome skos:exactMatch Orphanet:2036 semapv:UnspecifiedMatching +obo:GARD_159 Scalp-ear-nipple syndrome skos:narrowMatch OMIM:181270 semapv:UnspecifiedMatching +obo:GARD_15900 Hypotrichosis 11 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_15900 Hypotrichosis 11 skos:exactMatch OMIM:615059 semapv:UnspecifiedMatching +obo:GARD_15901 Osteogenesis imperfecta, type xiv skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_15901 Osteogenesis imperfecta, type xiv skos:exactMatch OMIM:615066 semapv:UnspecifiedMatching +obo:GARD_15902 Ciliary dyskinesia, primary, 20 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15902 Ciliary dyskinesia, primary, 20 skos:exactMatch OMIM:615067 semapv:UnspecifiedMatching +obo:GARD_15903 Brachydactyly, type a1, c skos:broadMatch Orphanet:93388 semapv:UnspecifiedMatching +obo:GARD_15903 Brachydactyly, type a1, c skos:exactMatch OMIM:615072 semapv:UnspecifiedMatching +obo:GARD_15904 Spermatogenic failure 11 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15904 Spermatogenic failure 11 skos:exactMatch OMIM:615081 semapv:UnspecifiedMatching +obo:GARD_15905 Osteopetrosis, autosomal recessive 8 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +obo:GARD_15905 Osteopetrosis, autosomal recessive 8 skos:exactMatch OMIM:615085 semapv:UnspecifiedMatching +obo:GARD_15906 Left ventricular noncompaction 7 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +obo:GARD_15906 Left ventricular noncompaction 7 skos:exactMatch OMIM:615092 semapv:UnspecifiedMatching +obo:GARD_15907 Urofacial syndrome 2 skos:broadMatch Orphanet:2704 semapv:UnspecifiedMatching +obo:GARD_15907 Urofacial syndrome 2 skos:exactMatch OMIM:615112 semapv:UnspecifiedMatching +obo:GARD_15908 Myasthenic syndrome, congenital, 8 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_15908 Myasthenic syndrome, congenital, 8 skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_15908 Myasthenic syndrome, congenital, 8 skos:exactMatch OMIM:615120 semapv:UnspecifiedMatching +obo:GARD_15909 Microphthalmia, isolated, with coloboma 9 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_15909 Microphthalmia, isolated, with coloboma 9 skos:exactMatch OMIM:615145 semapv:UnspecifiedMatching +obo:GARD_15910 Mitochondrial complex iii deficiency, nuclear type 2 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_15910 Mitochondrial complex iii deficiency, nuclear type 2 skos:exactMatch OMIM:615157 semapv:UnspecifiedMatching +obo:GARD_15911 Mitochondrial complex iii deficiency, nuclear type 3 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_15911 Mitochondrial complex iii deficiency, nuclear type 3 skos:exactMatch OMIM:615158 semapv:UnspecifiedMatching +obo:GARD_15912 Mitochondrial complex iii deficiency, nuclear type 4 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_15912 Mitochondrial complex iii deficiency, nuclear type 4 skos:exactMatch OMIM:615159 semapv:UnspecifiedMatching +obo:GARD_15913 Mitochondrial complex iii deficiency, nuclear type 5 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_15913 Mitochondrial complex iii deficiency, nuclear type 5 skos:exactMatch OMIM:615160 semapv:UnspecifiedMatching +obo:GARD_15914 Cone-rod dystrophy 17 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15914 Cone-rod dystrophy 17 skos:exactMatch OMIM:615163 semapv:UnspecifiedMatching +obo:GARD_15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15915 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:exactMatch OMIM:615181 semapv:UnspecifiedMatching +obo:GARD_15916 Cardiomyopathy, dilated, 1ii skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15916 Cardiomyopathy, dilated, 1ii skos:exactMatch OMIM:615184 semapv:UnspecifiedMatching +obo:GARD_15917 Dyskeratosis congenita, autosomal recessive 5 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_15917 Dyskeratosis congenita, autosomal recessive 5 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +obo:GARD_15917 Dyskeratosis congenita, autosomal recessive 5 skos:exactMatch OMIM:615190 semapv:UnspecifiedMatching +obo:GARD_15918 Agammaglobulinemia 7, autosomal recessive skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_15918 Agammaglobulinemia 7, autosomal recessive skos:exactMatch OMIM:615214 semapv:UnspecifiedMatching +obo:GARD_15919 Osteogenesis imperfecta, type xv skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_15919 Osteogenesis imperfecta, type xv skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_15919 Osteogenesis imperfecta, type xv skos:exactMatch OMIM:615220 semapv:UnspecifiedMatching +obo:GARD_15920 Bone mineral density quantitative trait locus 16 skos:broadMatch Orphanet:85193 semapv:UnspecifiedMatching +obo:GARD_15920 Bone mineral density quantitative trait locus 16 skos:exactMatch OMIM:615221 semapv:UnspecifiedMatching +obo:GARD_15921 Smith-mccort dysplasia 2 skos:broadMatch Orphanet:178355 semapv:UnspecifiedMatching +obo:GARD_15921 Smith-mccort dysplasia 2 skos:exactMatch OMIM:615222 semapv:UnspecifiedMatching +obo:GARD_15922 Advanced sleep phase syndrome, familial, 2 skos:broadMatch Orphanet:164736 semapv:UnspecifiedMatching +obo:GARD_15922 Advanced sleep phase syndrome, familial, 2 skos:exactMatch OMIM:615224 semapv:UnspecifiedMatching +obo:GARD_15923 Retinitis pigmentosa 66 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15923 Retinitis pigmentosa 66 skos:exactMatch OMIM:615233 semapv:UnspecifiedMatching +obo:GARD_15924 Cardiomyopathy, dilated, 1jj skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15924 Cardiomyopathy, dilated, 1jj skos:exactMatch OMIM:615235 semapv:UnspecifiedMatching +obo:GARD_15925 Nephrotic syndrome, type 8 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15925 Nephrotic syndrome, type 8 skos:exactMatch OMIM:615244 semapv:UnspecifiedMatching +obo:GARD_15926 Cardiomyopathy, dilated, 1kk skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_15926 Cardiomyopathy, dilated, 1kk skos:exactMatch OMIM:615248 semapv:UnspecifiedMatching +obo:GARD_15927 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15927 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:exactMatch OMIM:615249 semapv:UnspecifiedMatching +obo:GARD_15928 Hypogonadotropic hypogonadism 17 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15928 Hypogonadotropic hypogonadism 17 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15928 Hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch OMIM:615266 semapv:UnspecifiedMatching +obo:GARD_15929 Hypogonadotropic hypogonadism 18 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15929 Hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch OMIM:615267 semapv:UnspecifiedMatching +obo:GARD_15930 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 skos:broadMatch Orphanet:1766 semapv:UnspecifiedMatching +obo:GARD_15930 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 skos:exactMatch OMIM:615268 semapv:UnspecifiedMatching +obo:GARD_15931 Hypogonadotropic hypogonadism 19 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15931 Hypogonadotropic hypogonadism 19 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15931 Hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch OMIM:615269 semapv:UnspecifiedMatching +obo:GARD_15932 Hypogonadotropic hypogonadism 20 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_15932 Hypogonadotropic hypogonadism 20 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15932 Hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch OMIM:615270 semapv:UnspecifiedMatching +obo:GARD_15933 Hypogonadotropic hypogonadism 21 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_15933 Hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch OMIM:615271 semapv:UnspecifiedMatching +obo:GARD_15934 Fanconi anemia, complementation group q skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_15934 Fanconi anemia, complementation group q skos:exactMatch OMIM:615272 semapv:UnspecifiedMatching +obo:GARD_15935 Cardiofaciocutaneous syndrome 2 skos:broadMatch Orphanet:1340 semapv:UnspecifiedMatching +obo:GARD_15935 Cardiofaciocutaneous syndrome 2 skos:exactMatch OMIM:615278 semapv:UnspecifiedMatching +obo:GARD_15936 Cardiofaciocutaneous syndrome 3 skos:broadMatch Orphanet:1340 semapv:UnspecifiedMatching +obo:GARD_15936 Cardiofaciocutaneous syndrome 3 skos:exactMatch OMIM:615279 semapv:UnspecifiedMatching +obo:GARD_15937 Cardiofaciocutaneous syndrome 4 skos:broadMatch Orphanet:1340 semapv:UnspecifiedMatching +obo:GARD_15937 Cardiofaciocutaneous syndrome 4 skos:exactMatch OMIM:615280 semapv:UnspecifiedMatching +obo:GARD_15938 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_15938 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 skos:exactMatch OMIM:615287 semapv:UnspecifiedMatching +obo:GARD_15939 Myofibromatosis, infantile, 2 skos:broadMatch Orphanet:2591 semapv:UnspecifiedMatching +obo:GARD_15939 Myofibromatosis, infantile, 2 skos:exactMatch OMIM:615293 semapv:UnspecifiedMatching +obo:GARD_15940 Ciliary dyskinesia, primary, 21 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15940 Ciliary dyskinesia, primary, 21 skos:exactMatch OMIM:615294 semapv:UnspecifiedMatching +obo:GARD_15941 Adams-oliver syndrome 4 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +obo:GARD_15941 Adams-oliver syndrome 4 skos:exactMatch OMIM:615297 semapv:UnspecifiedMatching +obo:GARD_15942 Symphalangism, proximal, 1b skos:broadMatch Orphanet:3250 semapv:UnspecifiedMatching +obo:GARD_15942 Symphalangism, proximal, 1b skos:exactMatch OMIM:615298 semapv:UnspecifiedMatching +obo:GARD_15943 Perrault syndrome 4 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +obo:GARD_15943 Perrault syndrome 4 skos:exactMatch OMIM:615300 semapv:UnspecifiedMatching +obo:GARD_15944 Dowling-degos disease 2 skos:broadMatch Orphanet:79145 semapv:UnspecifiedMatching +obo:GARD_15944 Dowling-degos disease 2 skos:exactMatch OMIM:615327 semapv:UnspecifiedMatching +obo:GARD_15945 Developmental and epileptic encephalopathy 16 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +obo:GARD_15945 Developmental and epileptic encephalopathy 16 skos:exactMatch OMIM:615338 semapv:UnspecifiedMatching +obo:GARD_15946 Nemaline myopathy 8 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +obo:GARD_15946 Nemaline myopathy 8 skos:exactMatch OMIM:615348 semapv:UnspecifiedMatching +obo:GARD_15947 Ehlers-danlos syndrome, spondylodysplastic type, 2 skos:broadMatch Orphanet:75496 semapv:UnspecifiedMatching +obo:GARD_15947 Ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch OMIM:615349 semapv:UnspecifiedMatching +obo:GARD_15948 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 skos:broadMatch Orphanet:588 semapv:UnspecifiedMatching +obo:GARD_15948 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 skos:exactMatch OMIM:615350 semapv:UnspecifiedMatching +obo:GARD_15949 Noonan syndrome 8 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_15949 Noonan syndrome 8 skos:exactMatch OMIM:615355 semapv:UnspecifiedMatching +obo:GARD_15950 Leber congenital amaurosis 17 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_15950 Leber congenital amaurosis 17 skos:exactMatch OMIM:615360 semapv:UnspecifiedMatching +obo:GARD_15951 Hypocalcemia, autosomal dominant 2 skos:broadMatch Orphanet:428 semapv:UnspecifiedMatching +obo:GARD_15951 Hypocalcemia, autosomal dominant 2 skos:exactMatch OMIM:615361 semapv:UnspecifiedMatching +obo:GARD_15952 Left ventricular noncompaction 8 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +obo:GARD_15952 Left ventricular noncompaction 8 skos:exactMatch OMIM:615373 semapv:UnspecifiedMatching +obo:GARD_15953 Cone-rod dystrophy 18 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_15953 Cone-rod dystrophy 18 skos:exactMatch OMIM:615374 semapv:UnspecifiedMatching +obo:GARD_15954 Atrial fibrillation, familial, 13 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15954 Atrial fibrillation, familial, 13 skos:exactMatch OMIM:615377 semapv:UnspecifiedMatching +obo:GARD_15955 Atrial fibrillation, familial, 14 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_15955 Atrial fibrillation, familial, 14 skos:exactMatch OMIM:615378 semapv:UnspecifiedMatching +obo:GARD_15956 Left ventricular noncompaction 10 skos:broadMatch Orphanet:54260 semapv:UnspecifiedMatching +obo:GARD_15956 Left ventricular noncompaction 10 skos:exactMatch OMIM:615396 semapv:UnspecifiedMatching +obo:GARD_15957 Meckel syndrome, type 11 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_15957 Meckel syndrome, type 11 skos:exactMatch OMIM:615397 semapv:UnspecifiedMatching +obo:GARD_15958 Paroxysmal nocturnal hemoglobinuria 2 skos:broadMatch Orphanet:447 semapv:UnspecifiedMatching +obo:GARD_15958 Paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch OMIM:615399 semapv:UnspecifiedMatching +obo:GARD_15959 Dyschromatosis universalis hereditaria 3 skos:broadMatch Orphanet:241 semapv:UnspecifiedMatching +obo:GARD_15959 Dyschromatosis universalis hereditaria 3 skos:exactMatch OMIM:615402 semapv:UnspecifiedMatching +obo:GARD_15960 Spermatogenic failure 12 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_15960 Spermatogenic failure 12 skos:exactMatch OMIM:615413 semapv:UnspecifiedMatching +obo:GARD_15961 Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive skos:broadMatch Orphanet:1369 semapv:UnspecifiedMatching +obo:GARD_15961 Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive skos:exactMatch OMIM:615418 semapv:UnspecifiedMatching +obo:GARD_15962 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 skos:broadMatch Orphanet:52430 semapv:UnspecifiedMatching +obo:GARD_15962 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 skos:exactMatch OMIM:615422 semapv:UnspecifiedMatching +obo:GARD_15963 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 skos:broadMatch Orphanet:52430 semapv:UnspecifiedMatching +obo:GARD_15963 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 skos:exactMatch OMIM:615424 semapv:UnspecifiedMatching +obo:GARD_15964 Amyotrophic lateral sclerosis 20 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15964 Amyotrophic lateral sclerosis 20 skos:exactMatch OMIM:615426 semapv:UnspecifiedMatching +obo:GARD_15965 Retinitis pigmentosa 82 with or without situs inversus skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15965 Retinitis pigmentosa 82 with or without situs inversus skos:exactMatch OMIM:615434 semapv:UnspecifiedMatching +obo:GARD_15966 Aortic aneurysm, familial thoracic 8 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_15966 Aortic aneurysm, familial thoracic 8 skos:exactMatch OMIM:615436 semapv:UnspecifiedMatching +obo:GARD_15967 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness skos:broadMatch Orphanet:3286 semapv:UnspecifiedMatching +obo:GARD_15967 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness skos:exactMatch OMIM:615441 semapv:UnspecifiedMatching +obo:GARD_15968 Ciliary dyskinesia, primary, 22 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15968 Ciliary dyskinesia, primary, 22 skos:exactMatch OMIM:615444 semapv:UnspecifiedMatching +obo:GARD_15969 Ciliary dyskinesia, primary, 23 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15969 Ciliary dyskinesia, primary, 23 skos:exactMatch OMIM:615451 semapv:UnspecifiedMatching +obo:GARD_15970 Mitochondrial complex iii deficiency, nuclear type 6 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_15970 Mitochondrial complex iii deficiency, nuclear type 6 skos:exactMatch OMIM:615453 semapv:UnspecifiedMatching +obo:GARD_15971 Ciliary dyskinesia, primary, 24 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15971 Ciliary dyskinesia, primary, 24 skos:exactMatch OMIM:615481 semapv:UnspecifiedMatching +obo:GARD_15972 Ciliary dyskinesia, primary, 25 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15972 Ciliary dyskinesia, primary, 25 skos:exactMatch OMIM:615482 semapv:UnspecifiedMatching +obo:GARD_15973 Basal ganglia calcification, idiopathic, 5 skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +obo:GARD_15973 Basal ganglia calcification, idiopathic, 5 skos:exactMatch OMIM:615483 semapv:UnspecifiedMatching +obo:GARD_15974 Ciliary dyskinesia, primary, 26 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15974 Ciliary dyskinesia, primary, 26 skos:exactMatch OMIM:615500 semapv:UnspecifiedMatching +obo:GARD_15975 Short-rib thoracic dysplasia 8 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +obo:GARD_15975 Short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch OMIM:615503 semapv:UnspecifiedMatching +obo:GARD_15976 Ciliary dyskinesia, primary, 27 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15976 Ciliary dyskinesia, primary, 27 skos:exactMatch OMIM:615504 semapv:UnspecifiedMatching +obo:GARD_15977 Ciliary dyskinesia, primary, 28 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_15977 Ciliary dyskinesia, primary, 28 skos:exactMatch OMIM:615505 semapv:UnspecifiedMatching +obo:GARD_15978 Telangiectasia, hereditary hemorrhagic, type 5 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +obo:GARD_15978 Telangiectasia, hereditary hemorrhagic, type 5 skos:exactMatch OMIM:615506 semapv:UnspecifiedMatching +obo:GARD_15979 Immunodeficiency 14a, autosomal dominant skos:broadMatch Orphanet:397596 semapv:UnspecifiedMatching +obo:GARD_15979 Immunodeficiency 14a, autosomal dominant skos:exactMatch OMIM:615513 semapv:UnspecifiedMatching +obo:GARD_15980 Amyotrophic lateral sclerosis 19 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_15980 Amyotrophic lateral sclerosis 19 skos:exactMatch OMIM:615515 semapv:UnspecifiedMatching +obo:GARD_15981 Candidiasis, familial, 8 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_15981 Candidiasis, familial, 8 skos:exactMatch OMIM:615527 semapv:UnspecifiedMatching +obo:GARD_15982 Ehlers-danlos syndrome, musculocontractural type, 2 skos:broadMatch Orphanet:2953 semapv:UnspecifiedMatching +obo:GARD_15982 Ehlers-danlos syndrome, musculocontractural type, 2 skos:exactMatch OMIM:615539 semapv:UnspecifiedMatching +obo:GARD_15983 Periventricular nodular heterotopia 6 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_15983 Periventricular nodular heterotopia 6 skos:exactMatch OMIM:615544 semapv:UnspecifiedMatching +obo:GARD_15984 Van maldergem syndrome 2 skos:broadMatch Orphanet:314679 semapv:UnspecifiedMatching +obo:GARD_15984 Van maldergem syndrome 2 skos:exactMatch OMIM:615546 semapv:UnspecifiedMatching +obo:GARD_15985 Diamond-blackfan anemia 12 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_15985 Diamond-blackfan anemia 12 skos:exactMatch OMIM:615550 semapv:UnspecifiedMatching +obo:GARD_15986 Melioidosis, susceptibility to skos:broadMatch Orphanet:31202 semapv:UnspecifiedMatching +obo:GARD_15986 Melioidosis, susceptibility to skos:exactMatch OMIM:615557 semapv:UnspecifiedMatching +obo:GARD_15987 Autoimmune lymphoproliferative syndrome, type iii skos:broadMatch Orphanet:3261 semapv:UnspecifiedMatching +obo:GARD_15987 Autoimmune lymphoproliferative syndrome, type iii skos:exactMatch OMIM:615559 semapv:UnspecifiedMatching +obo:GARD_15988 Retinitis pigmentosa 67 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_15988 Retinitis pigmentosa 67 skos:exactMatch OMIM:615565 semapv:UnspecifiedMatching +obo:GARD_15989 Nephrotic syndrome, type 9 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_15989 Nephrotic syndrome, type 9 skos:exactMatch OMIM:615573 semapv:UnspecifiedMatching +obo:GARD_15990 Immunodeficiency, common variable, 10 skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_15990 Immunodeficiency, common variable, 10 skos:exactMatch OMIM:615577 semapv:UnspecifiedMatching +obo:GARD_15991 Fanconi renotubular syndrome 3 skos:broadMatch Orphanet:3337 semapv:UnspecifiedMatching +obo:GARD_15991 Fanconi renotubular syndrome 3 skos:exactMatch OMIM:615605 semapv:UnspecifiedMatching +obo:GARD_15992 Cholangiocarcinoma, susceptibility to skos:broadMatch Orphanet:70567 semapv:UnspecifiedMatching +obo:GARD_15992 Cholangiocarcinoma, susceptibility to skos:exactMatch OMIM:615619 semapv:UnspecifiedMatching +obo:GARD_15993 Short-rib thoracic dysplasia 10 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15993 Short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch OMIM:615630 semapv:UnspecifiedMatching +obo:GARD_15994 Anemia, congenital dyserythropoietic, type ib skos:broadMatch Orphanet:98869 semapv:UnspecifiedMatching +obo:GARD_15994 Anemia, congenital dyserythropoietic, type ib skos:exactMatch OMIM:615631 semapv:UnspecifiedMatching +obo:GARD_15995 Neuropathy, hereditary sensory, type if skos:broadMatch Orphanet:36386 semapv:UnspecifiedMatching +obo:GARD_15995 Neuropathy, hereditary sensory, type if skos:exactMatch OMIM:615632 semapv:UnspecifiedMatching +obo:GARD_15996 Short-rib thoracic dysplasia 11 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_15996 Short-rib thoracic dysplasia 11 with or without polydactyly skos:broadMatch Orphanet:93271 semapv:UnspecifiedMatching +obo:GARD_15996 Short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch OMIM:615633 semapv:UnspecifiedMatching +obo:GARD_15997 Joubert syndrome 21 skos:broadMatch Orphanet:397715 semapv:UnspecifiedMatching +obo:GARD_15997 Joubert syndrome 21 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_15997 Joubert syndrome 21 skos:exactMatch OMIM:615636 semapv:UnspecifiedMatching +obo:GARD_15998 Warburg micro syndrome 4 skos:broadMatch Orphanet:2510 semapv:UnspecifiedMatching +obo:GARD_15998 Warburg micro syndrome 4 skos:exactMatch OMIM:615663 semapv:UnspecifiedMatching +obo:GARD_15999 Joubert syndrome 22 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +obo:GARD_15999 Joubert syndrome 22 skos:exactMatch OMIM:615665 semapv:UnspecifiedMatching +obo:GARD_16 Ocular motor apraxia, Cogan type skos:exactMatch Orphanet:1125 semapv:UnspecifiedMatching +obo:GARD_16 Ocular motor apraxia, Cogan type skos:narrowMatch OMIM:257550 semapv:UnspecifiedMatching +obo:GARD_160 Satoyoshi syndrome skos:exactMatch Orphanet:3130 semapv:UnspecifiedMatching +obo:GARD_160 Satoyoshi syndrome skos:narrowMatch OMIM:600705 semapv:UnspecifiedMatching +obo:GARD_16000 Schwannomatosis 2 skos:broadMatch Orphanet:93921 semapv:UnspecifiedMatching +obo:GARD_16000 Schwannomatosis 2 skos:exactMatch OMIM:615670 semapv:UnspecifiedMatching +obo:GARD_16001 Dowling-degos disease 3 skos:broadMatch Orphanet:79145 semapv:UnspecifiedMatching +obo:GARD_16001 Dowling-degos disease 3 skos:exactMatch OMIM:615674 semapv:UnspecifiedMatching +obo:GARD_16002 Dowling-degos disease 4 skos:broadMatch Orphanet:79145 semapv:UnspecifiedMatching +obo:GARD_16002 Dowling-degos disease 4 skos:exactMatch OMIM:615696 semapv:UnspecifiedMatching +obo:GARD_16003 Auriculocondylar syndrome 3 skos:broadMatch Orphanet:137888 semapv:UnspecifiedMatching +obo:GARD_16003 Auriculocondylar syndrome 3 skos:exactMatch OMIM:615706 semapv:UnspecifiedMatching +obo:GARD_16004 Retinitis pigmentosa 68 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16004 Retinitis pigmentosa 68 skos:exactMatch OMIM:615725 semapv:UnspecifiedMatching +obo:GARD_16005 Pachyonychia congenita 3 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +obo:GARD_16005 Pachyonychia congenita 3 skos:exactMatch OMIM:615726 semapv:UnspecifiedMatching +obo:GARD_16006 Pachyonychia congenita 4 skos:broadMatch Orphanet:2309 semapv:UnspecifiedMatching +obo:GARD_16006 Pachyonychia congenita 4 skos:exactMatch OMIM:615728 semapv:UnspecifiedMatching +obo:GARD_16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +obo:GARD_16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171433 semapv:UnspecifiedMatching +obo:GARD_16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_16007 Nemaline myopathy 9 skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_16007 Nemaline myopathy 9 skos:exactMatch OMIM:615731 semapv:UnspecifiedMatching +obo:GARD_16008 Developmental and epileptic encephalopathy 19 skos:broadMatch Orphanet:33069 semapv:UnspecifiedMatching +obo:GARD_16008 Developmental and epileptic encephalopathy 19 skos:exactMatch OMIM:615744 semapv:UnspecifiedMatching +obo:GARD_16009 Polymicrogyria, bilateral perisylvian, autosomal recessive skos:broadMatch Orphanet:98889 semapv:UnspecifiedMatching +obo:GARD_16009 Polymicrogyria, bilateral perisylvian, autosomal recessive skos:exactMatch OMIM:615752 semapv:UnspecifiedMatching +obo:GARD_1601 Craniosynostosis, Philadelphia type skos:exactMatch Orphanet:1527 semapv:UnspecifiedMatching +obo:GARD_1601 Craniosynostosis, Philadelphia type skos:narrowMatch OMIM:185900 semapv:UnspecifiedMatching +obo:GARD_16010 Atrial fibrillation, familial, 15 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_16010 Atrial fibrillation, familial, 15 skos:exactMatch OMIM:615770 semapv:UnspecifiedMatching +obo:GARD_16011 Retinitis pigmentosa 69 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16011 Retinitis pigmentosa 69 skos:exactMatch OMIM:615780 semapv:UnspecifiedMatching +obo:GARD_16012 White sponge nevus 2 skos:broadMatch Orphanet:171723 semapv:UnspecifiedMatching +obo:GARD_16012 White sponge nevus 2 skos:exactMatch OMIM:615785 semapv:UnspecifiedMatching +obo:GARD_16013 Seckel syndrome 8 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_16013 Seckel syndrome 8 skos:exactMatch OMIM:615807 semapv:UnspecifiedMatching +obo:GARD_16014 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:broadMatch Orphanet:65282 semapv:UnspecifiedMatching +obo:GARD_16014 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch OMIM:615821 semapv:UnspecifiedMatching +obo:GARD_16015 Mitochondrial complex iii deficiency, nuclear type 7 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_16015 Mitochondrial complex iii deficiency, nuclear type 7 skos:exactMatch OMIM:615824 semapv:UnspecifiedMatching +obo:GARD_16016 Pigmented nodular adrenocortical disease, primary, 4 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +obo:GARD_16016 Pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch OMIM:615830 semapv:UnspecifiedMatching +obo:GARD_16017 Developmental and epileptic encephalopathy 21 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16017 Developmental and epileptic encephalopathy 21 skos:exactMatch OMIM:615833 semapv:UnspecifiedMatching +obo:GARD_16018 Mitochondrial complex iii deficiency, nuclear type 8 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_16018 Mitochondrial complex iii deficiency, nuclear type 8 skos:exactMatch OMIM:615838 semapv:UnspecifiedMatching +obo:GARD_16019 Spermatogenic failure 13 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16019 Spermatogenic failure 13 skos:exactMatch OMIM:615841 semapv:UnspecifiedMatching +obo:GARD_1602 Baller-Gerold syndrome skos:exactMatch Orphanet:1225 semapv:UnspecifiedMatching +obo:GARD_1602 Baller-Gerold syndrome skos:narrowMatch OMIM:218600 semapv:UnspecifiedMatching +obo:GARD_16020 Spermatogenic failure 14 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16020 Spermatogenic failure 14 skos:exactMatch OMIM:615842 semapv:UnspecifiedMatching +obo:GARD_16021 Aicardi-goutieres syndrome 7 skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_16021 Aicardi-goutieres syndrome 7 skos:exactMatch OMIM:615846 semapv:UnspecifiedMatching +obo:GARD_16022 Cone-rod dystrophy 19 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_16022 Cone-rod dystrophy 19 skos:exactMatch OMIM:615860 semapv:UnspecifiedMatching +obo:GARD_16023 Coffin-siris syndrome 9 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16023 Coffin-siris syndrome 9 skos:exactMatch OMIM:615866 semapv:UnspecifiedMatching +obo:GARD_16024 Developmental and epileptic encephalopathy 24 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16024 Developmental and epileptic encephalopathy 24 skos:exactMatch OMIM:615871 semapv:UnspecifiedMatching +obo:GARD_16025 Ciliary dyskinesia, primary, 29 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16025 Ciliary dyskinesia, primary, 29 skos:exactMatch OMIM:615872 semapv:UnspecifiedMatching +obo:GARD_16026 Myopathy, tubular aggregate, 2 skos:broadMatch Orphanet:2593 semapv:UnspecifiedMatching +obo:GARD_16026 Myopathy, tubular aggregate, 2 skos:exactMatch OMIM:615883 semapv:UnspecifiedMatching +obo:GARD_16027 Hypotrichosis 12 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_16027 Hypotrichosis 12 skos:exactMatch OMIM:615885 semapv:UnspecifiedMatching +obo:GARD_16028 Amelogenesis imperfecta, hypomaturation type, iia5 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_16028 Amelogenesis imperfecta, hypomaturation type, iia5 skos:exactMatch OMIM:615887 semapv:UnspecifiedMatching +obo:GARD_16029 Hypotrichosis 13 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +obo:GARD_16029 Hypotrichosis 13 skos:exactMatch OMIM:615896 semapv:UnspecifiedMatching +obo:GARD_16030 Diamond-blackfan anemia 13 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_16030 Diamond-blackfan anemia 13 skos:exactMatch OMIM:615909 semapv:UnspecifiedMatching +obo:GARD_16031 Cardiomyopathy, dilated, 1nn skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_16031 Cardiomyopathy, dilated, 1nn skos:exactMatch OMIM:615916 semapv:UnspecifiedMatching +obo:GARD_16032 Retinitis pigmentosa 70 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16032 Retinitis pigmentosa 70 skos:exactMatch OMIM:615922 semapv:UnspecifiedMatching +obo:GARD_16033 Pancreatic agenesis 2 skos:broadMatch Orphanet:2805 semapv:UnspecifiedMatching +obo:GARD_16033 Pancreatic agenesis 2 skos:exactMatch OMIM:615935 semapv:UnspecifiedMatching +obo:GARD_16034 Acth-independent macronodular adrenal hyperplasia 2 skos:broadMatch Orphanet:189427 semapv:UnspecifiedMatching +obo:GARD_16034 Acth-independent macronodular adrenal hyperplasia 2 skos:exactMatch OMIM:615954 semapv:UnspecifiedMatching +obo:GARD_16035 Myopathy, centronuclear, 5 skos:broadMatch Orphanet:169186 semapv:UnspecifiedMatching +obo:GARD_16035 Myopathy, centronuclear, 5 skos:exactMatch OMIM:615959 semapv:UnspecifiedMatching +obo:GARD_16036 Cone-rod dystrophy 20 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_16036 Cone-rod dystrophy 20 skos:exactMatch OMIM:615973 semapv:UnspecifiedMatching +obo:GARD_16037 Bardet-biedl syndrome 13 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16037 Bardet-biedl syndrome 13 skos:exactMatch OMIM:615990 semapv:UnspecifiedMatching +obo:GARD_16038 Bardet-biedl syndrome 14 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16038 Bardet-biedl syndrome 14 skos:exactMatch OMIM:615991 semapv:UnspecifiedMatching +obo:GARD_16039 Bardet-biedl syndrome 15 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16039 Bardet-biedl syndrome 15 skos:exactMatch OMIM:615992 semapv:UnspecifiedMatching +obo:GARD_16040 Bardet-biedl syndrome 16 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16040 Bardet-biedl syndrome 16 skos:exactMatch OMIM:615993 semapv:UnspecifiedMatching +obo:GARD_16041 Bardet-biedl syndrome 17 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16041 Bardet-biedl syndrome 17 skos:exactMatch OMIM:615994 semapv:UnspecifiedMatching +obo:GARD_16042 Bardet-biedl syndrome 18 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16042 Bardet-biedl syndrome 18 skos:exactMatch OMIM:615995 semapv:UnspecifiedMatching +obo:GARD_16043 Bardet-biedl syndrome 19 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16043 Bardet-biedl syndrome 19 skos:exactMatch OMIM:615996 semapv:UnspecifiedMatching +obo:GARD_16044 Breasts and/or nipples, aplasia or hypoplasia of, 2 skos:broadMatch Orphanet:180188 semapv:UnspecifiedMatching +obo:GARD_16044 Breasts and/or nipples, aplasia or hypoplasia of, 2 skos:exactMatch OMIM:616001 semapv:UnspecifiedMatching +obo:GARD_16045 Focal segmental glomerulosclerosis 7 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16045 Focal segmental glomerulosclerosis 7 skos:exactMatch OMIM:616002 semapv:UnspecifiedMatching +obo:GARD_16046 Immunodeficiency 36 skos:broadMatch Orphanet:397596 semapv:UnspecifiedMatching +obo:GARD_16046 Immunodeficiency 36 skos:exactMatch OMIM:616005 semapv:UnspecifiedMatching +obo:GARD_16047 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:broadMatch Orphanet:2136 semapv:UnspecifiedMatching +obo:GARD_16047 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:exactMatch OMIM:616006 semapv:UnspecifiedMatching +obo:GARD_16048 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:broadMatch Orphanet:93111 semapv:UnspecifiedMatching +obo:GARD_16048 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:exactMatch OMIM:616026 semapv:UnspecifiedMatching +obo:GARD_16049 Adams-oliver syndrome 5 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +obo:GARD_16049 Adams-oliver syndrome 5 skos:exactMatch OMIM:616028 semapv:UnspecifiedMatching +obo:GARD_1605 Craniotelencephalic dysplasia skos:exactMatch Orphanet:1528 semapv:UnspecifiedMatching +obo:GARD_1605 Craniotelencephalic dysplasia skos:narrowMatch OMIM:218670 semapv:UnspecifiedMatching +obo:GARD_16050 Hypogonadotropic hypogonadism 22 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_16050 Hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch OMIM:616030 semapv:UnspecifiedMatching +obo:GARD_16051 Focal segmental glomerulosclerosis 8 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16051 Focal segmental glomerulosclerosis 8 skos:exactMatch OMIM:616032 semapv:UnspecifiedMatching +obo:GARD_16052 Ciliary dyskinesia, primary, 30 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16052 Ciliary dyskinesia, primary, 30 skos:exactMatch OMIM:616037 semapv:UnspecifiedMatching +obo:GARD_16053 Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16053 Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant skos:exactMatch OMIM:616040 semapv:UnspecifiedMatching +obo:GARD_16054 Microcephaly 13, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16054 Microcephaly 13, primary, autosomal recessive skos:exactMatch OMIM:616051 semapv:UnspecifiedMatching +obo:GARD_16055 Mirror movements 3 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +obo:GARD_16055 Mirror movements 3 skos:exactMatch OMIM:616059 semapv:UnspecifiedMatching +obo:GARD_16056 Porokeratosis 8, disseminated superficial actinic type skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_16056 Porokeratosis 8, disseminated superficial actinic type skos:exactMatch OMIM:616063 semapv:UnspecifiedMatching +obo:GARD_16057 Microcephaly 12, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16057 Microcephaly 12, primary, autosomal recessive skos:exactMatch OMIM:616080 semapv:UnspecifiedMatching +obo:GARD_16058 Pontocerebellar hypoplasia, type 1c skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_16058 Pontocerebellar hypoplasia, type 1c skos:exactMatch OMIM:616081 semapv:UnspecifiedMatching +obo:GARD_16059 Psoriasis 15, pustular, susceptibility to skos:broadMatch Orphanet:247353 semapv:UnspecifiedMatching +obo:GARD_16059 Psoriasis 15, pustular, susceptibility to skos:exactMatch OMIM:616106 semapv:UnspecifiedMatching +obo:GARD_16060 Mitochondrial complex iii deficiency, nuclear type 9 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_16060 Mitochondrial complex iii deficiency, nuclear type 9 skos:exactMatch OMIM:616111 semapv:UnspecifiedMatching +obo:GARD_16061 Familial cold autoinflammatory syndrome 4 skos:broadMatch Orphanet:47045 semapv:UnspecifiedMatching +obo:GARD_16061 Familial cold autoinflammatory syndrome 4 skos:exactMatch OMIM:616115 semapv:UnspecifiedMatching +obo:GARD_16062 Perrault syndrome 5 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +obo:GARD_16062 Perrault syndrome 5 skos:exactMatch OMIM:616138 semapv:UnspecifiedMatching +obo:GARD_16063 Developmental and epileptic encephalopathy 27 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_16063 Developmental and epileptic encephalopathy 27 skos:exactMatch OMIM:616139 semapv:UnspecifiedMatching +obo:GARD_16064 Macular dystrophy, vitelliform, 4 skos:broadMatch Orphanet:99000 semapv:UnspecifiedMatching +obo:GARD_16064 Macular dystrophy, vitelliform, 4 skos:exactMatch OMIM:616151 semapv:UnspecifiedMatching +obo:GARD_16065 Macular dystrophy, vitelliform, 5 skos:broadMatch Orphanet:99000 semapv:UnspecifiedMatching +obo:GARD_16065 Macular dystrophy, vitelliform, 5 skos:exactMatch OMIM:616152 semapv:UnspecifiedMatching +obo:GARD_16066 Nemaline myopathy 10 skos:broadMatch Orphanet:171430 semapv:UnspecifiedMatching +obo:GARD_16066 Nemaline myopathy 10 skos:broadMatch Orphanet:171436 semapv:UnspecifiedMatching +obo:GARD_16066 Nemaline myopathy 10 skos:exactMatch OMIM:616165 semapv:UnspecifiedMatching +obo:GARD_16067 Aortic aneurysm, familial thoracic 9 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_16067 Aortic aneurysm, familial thoracic 9 skos:exactMatch OMIM:616166 semapv:UnspecifiedMatching +obo:GARD_16068 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_16068 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia skos:exactMatch OMIM:616208 semapv:UnspecifiedMatching +obo:GARD_16069 Developmental and epileptic encephalopathy 28 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16069 Developmental and epileptic encephalopathy 28 skos:exactMatch OMIM:616211 semapv:UnspecifiedMatching +obo:GARD_16070 Focal segmental glomerulosclerosis 9 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16070 Focal segmental glomerulosclerosis 9 skos:exactMatch OMIM:616220 semapv:UnspecifiedMatching +obo:GARD_16071 Amelogenesis imperfecta, type ih skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_16071 Amelogenesis imperfecta, type ih skos:broadMatch Orphanet:100032 semapv:UnspecifiedMatching +obo:GARD_16071 Amelogenesis imperfecta, type ih skos:exactMatch OMIM:616221 semapv:UnspecifiedMatching +obo:GARD_16072 Osteogenesis imperfecta, type xvi skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_16072 Osteogenesis imperfecta, type xvi skos:exactMatch OMIM:616229 semapv:UnspecifiedMatching +obo:GARD_16073 Long qt syndrome 14 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_16073 Long qt syndrome 14 skos:exactMatch OMIM:616247 semapv:UnspecifiedMatching +obo:GARD_16074 Long qt syndrome 15 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_16074 Long qt syndrome 15 skos:exactMatch OMIM:616249 semapv:UnspecifiedMatching +obo:GARD_16075 Congenital limbs-face contractures-hypotonia-developmental delay syndrome skos:exactMatch Orphanet:562528 semapv:UnspecifiedMatching +obo:GARD_16075 Congenital limbs-face contractures-hypotonia-developmental delay syndrome skos:narrowMatch OMIM:616266 semapv:UnspecifiedMatching +obo:GARD_16076 Amelogenesis imperfecta, type if skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_16076 Amelogenesis imperfecta, type if skos:exactMatch OMIM:616270 semapv:UnspecifiedMatching +obo:GARD_16077 Cole-carpenter syndrome 2 skos:broadMatch Orphanet:2050 semapv:UnspecifiedMatching +obo:GARD_16077 Cole-carpenter syndrome 2 skos:exactMatch OMIM:616294 semapv:UnspecifiedMatching +obo:GARD_16078 Singleton-merten syndrome 2 skos:broadMatch Orphanet:85191 semapv:UnspecifiedMatching +obo:GARD_16078 Singleton-merten syndrome 2 skos:exactMatch OMIM:616298 semapv:UnspecifiedMatching +obo:GARD_16079 Short-rib thoracic dysplasia 13 with or without polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_16079 Short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch OMIM:616300 semapv:UnspecifiedMatching +obo:GARD_1608 X-linked creatine transporter deficiency skos:exactMatch Orphanet:52503 semapv:UnspecifiedMatching +obo:GARD_1608 X-linked creatine transporter deficiency skos:narrowMatch OMIM:300352 semapv:UnspecifiedMatching +obo:GARD_16080 Myasthenic syndrome, congenital, 17 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16080 Myasthenic syndrome, congenital, 17 skos:exactMatch OMIM:616304 semapv:UnspecifiedMatching +obo:GARD_16081 Senior-loken syndrome 8 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_16081 Senior-loken syndrome 8 skos:exactMatch OMIM:616307 semapv:UnspecifiedMatching +obo:GARD_16082 Intellectual developmental disorder, autosomal dominant 33 skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +obo:GARD_16082 Intellectual developmental disorder, autosomal dominant 33 skos:exactMatch OMIM:616311 semapv:UnspecifiedMatching +obo:GARD_16083 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16083 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616314 semapv:UnspecifiedMatching +obo:GARD_16084 Myasthenic syndrome, congenital, 3a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16084 Myasthenic syndrome, congenital, 3a, slow-channel skos:exactMatch OMIM:616321 semapv:UnspecifiedMatching +obo:GARD_16085 Myasthenic syndrome, congenital, 3b, fast-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16085 Myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch OMIM:616322 semapv:UnspecifiedMatching +obo:GARD_16086 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16086 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616323 semapv:UnspecifiedMatching +obo:GARD_16087 Myasthenic syndrome, congenital, 4b, fast-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16087 Myasthenic syndrome, congenital, 4b, fast-channel skos:exactMatch OMIM:616324 semapv:UnspecifiedMatching +obo:GARD_16088 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16088 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616325 semapv:UnspecifiedMatching +obo:GARD_16089 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16089 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency skos:exactMatch OMIM:616326 semapv:UnspecifiedMatching +obo:GARD_1609 Creeping myiasis skos:exactMatch Orphanet:504 semapv:UnspecifiedMatching +obo:GARD_16090 Maturity-onset diabetes of the young, type 13 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_16090 Maturity-onset diabetes of the young, type 13 skos:exactMatch OMIM:616329 semapv:UnspecifiedMatching +obo:GARD_16091 Myasthenic syndrome, congenital, 18 skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16091 Myasthenic syndrome, congenital, 18 skos:exactMatch OMIM:616330 semapv:UnspecifiedMatching +obo:GARD_16092 Developmental and epileptic encephalopathy 29 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16092 Developmental and epileptic encephalopathy 29 skos:exactMatch OMIM:616339 semapv:UnspecifiedMatching +obo:GARD_16093 Developmental and epileptic encephalopathy 30 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16093 Developmental and epileptic encephalopathy 30 skos:broadMatch Orphanet:1935 semapv:UnspecifiedMatching +obo:GARD_16093 Developmental and epileptic encephalopathy 30 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_16093 Developmental and epileptic encephalopathy 30 skos:exactMatch OMIM:616341 semapv:UnspecifiedMatching +obo:GARD_16094 Developmental and epileptic encephalopathy 31 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +obo:GARD_16094 Developmental and epileptic encephalopathy 31 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16094 Developmental and epileptic encephalopathy 31 skos:exactMatch OMIM:616346 semapv:UnspecifiedMatching +obo:GARD_16095 Dyskeratosis congenita, autosomal recessive 6 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_16095 Dyskeratosis congenita, autosomal recessive 6 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +obo:GARD_16095 Dyskeratosis congenita, autosomal recessive 6 skos:exactMatch OMIM:616353 semapv:UnspecifiedMatching +obo:GARD_16096 Developmental and epileptic encephalopathy 32 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16096 Developmental and epileptic encephalopathy 32 skos:exactMatch OMIM:616366 semapv:UnspecifiedMatching +obo:GARD_16097 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 skos:broadMatch Orphanet:2032 semapv:UnspecifiedMatching +obo:GARD_16097 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 skos:exactMatch OMIM:616371 semapv:UnspecifiedMatching +obo:GARD_16098 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 skos:broadMatch Orphanet:2032 semapv:UnspecifiedMatching +obo:GARD_16098 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 skos:exactMatch OMIM:616373 semapv:UnspecifiedMatching +obo:GARD_16099 Night blindness, congenital stationary, type 1g skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_16099 Night blindness, congenital stationary, type 1g skos:exactMatch OMIM:616389 semapv:UnspecifiedMatching +obo:GARD_16100 Trichothiodystrophy 2, photosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_16100 Trichothiodystrophy 2, photosensitive skos:exactMatch OMIM:616390 semapv:UnspecifiedMatching +obo:GARD_16101 Retinitis pigmentosa 71 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16101 Retinitis pigmentosa 71 skos:exactMatch OMIM:616394 semapv:UnspecifiedMatching +obo:GARD_16102 Trichothiodystrophy 3, photosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_16102 Trichothiodystrophy 3, photosensitive skos:exactMatch OMIM:616395 semapv:UnspecifiedMatching +obo:GARD_16103 Dystonia 26, myoclonic skos:broadMatch Orphanet:36899 semapv:UnspecifiedMatching +obo:GARD_16103 Dystonia 26, myoclonic skos:exactMatch OMIM:616398 semapv:UnspecifiedMatching +obo:GARD_16104 Brugada syndrome 9 skos:broadMatch Orphanet:130 semapv:UnspecifiedMatching +obo:GARD_16104 Brugada syndrome 9 skos:exactMatch OMIM:616399 semapv:UnspecifiedMatching +obo:GARD_16105 Microcephaly 14, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16105 Microcephaly 14, primary, autosomal recessive skos:exactMatch OMIM:616402 semapv:UnspecifiedMatching +obo:GARD_16106 Developmental and epileptic encephalopathy 33 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16106 Developmental and epileptic encephalopathy 33 skos:exactMatch OMIM:616409 semapv:UnspecifiedMatching +obo:GARD_16107 Basal ganglia calcification, idiopathic, 6 skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +obo:GARD_16107 Basal ganglia calcification, idiopathic, 6 skos:exactMatch OMIM:616413 semapv:UnspecifiedMatching +obo:GARD_16108 Myoclonic-atonic epilepsy skos:broadMatch Orphanet:1942 semapv:UnspecifiedMatching +obo:GARD_16108 Myoclonic-atonic epilepsy skos:exactMatch OMIM:616421 semapv:UnspecifiedMatching +obo:GARD_16109 46,xy sex reversal 10 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_16109 46,xy sex reversal 10 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_16109 46,xy sex reversal 10 skos:exactMatch OMIM:616425 semapv:UnspecifiedMatching +obo:GARD_1611 Crisponi syndrome skos:exactMatch Orphanet:1545 semapv:UnspecifiedMatching +obo:GARD_16110 Microphthalmia, isolated, with coloboma 10 skos:broadMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_16110 Microphthalmia, isolated, with coloboma 10 skos:exactMatch OMIM:616428 semapv:UnspecifiedMatching +obo:GARD_16111 Fanconi anemia, complementation group t skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_16111 Fanconi anemia, complementation group t skos:exactMatch OMIM:616435 semapv:UnspecifiedMatching +obo:GARD_16112 Epilepsy, familial temporal lobe, 7 skos:broadMatch Orphanet:101046 semapv:UnspecifiedMatching +obo:GARD_16112 Epilepsy, familial temporal lobe, 7 skos:exactMatch OMIM:616436 semapv:UnspecifiedMatching +obo:GARD_16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:275864 semapv:UnspecifiedMatching +obo:GARD_16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_16113 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:616437 semapv:UnspecifiedMatching +obo:GARD_16114 Candidiasis, familial, 9 skos:broadMatch Orphanet:1334 semapv:UnspecifiedMatching +obo:GARD_16114 Candidiasis, familial, 9 skos:exactMatch OMIM:616445 semapv:UnspecifiedMatching +obo:GARD_16115 Zimmermann-laband syndrome 2 skos:broadMatch Orphanet:3473 semapv:UnspecifiedMatching +obo:GARD_16115 Zimmermann-laband syndrome 2 skos:exactMatch OMIM:616455 semapv:UnspecifiedMatching +obo:GARD_16116 Epilepsy, familial temporal lobe, 8 skos:broadMatch Orphanet:101046 semapv:UnspecifiedMatching +obo:GARD_16116 Epilepsy, familial temporal lobe, 8 skos:exactMatch OMIM:616461 semapv:UnspecifiedMatching +obo:GARD_16117 Acrofacial dysostosis, cincinnati type skos:broadMatch Orphanet:1200 semapv:UnspecifiedMatching +obo:GARD_16117 Acrofacial dysostosis, cincinnati type skos:exactMatch OMIM:616462 semapv:UnspecifiedMatching +obo:GARD_16118 Exudative vitreoretinopathy 6 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_16118 Exudative vitreoretinopathy 6 skos:exactMatch OMIM:616468 semapv:UnspecifiedMatching +obo:GARD_16119 Retinitis pigmentosa 72 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16119 Retinitis pigmentosa 72 skos:exactMatch OMIM:616469 semapv:UnspecifiedMatching +obo:GARD_16120 Ullrich congenital muscular dystrophy 2 skos:broadMatch Orphanet:75840 semapv:UnspecifiedMatching +obo:GARD_16120 Ullrich congenital muscular dystrophy 2 skos:exactMatch OMIM:616470 semapv:UnspecifiedMatching +obo:GARD_16121 Bethlem myopathy 2 skos:broadMatch Orphanet:610 semapv:UnspecifiedMatching +obo:GARD_16121 Bethlem myopathy 2 skos:exactMatch OMIM:616471 semapv:UnspecifiedMatching +obo:GARD_16122 Ciliary dyskinesia, primary, 32 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16122 Ciliary dyskinesia, primary, 32 skos:exactMatch OMIM:616481 semapv:UnspecifiedMatching +obo:GARD_16123 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16123 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch OMIM:616486 semapv:UnspecifiedMatching +obo:GARD_16124 Joubert syndrome 23 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16124 Joubert syndrome 23 skos:exactMatch OMIM:616490 semapv:UnspecifiedMatching +obo:GARD_16125 Cone-rod dystrophy 21 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_16125 Cone-rod dystrophy 21 skos:exactMatch OMIM:616502 semapv:UnspecifiedMatching +obo:GARD_16126 Osteogenesis imperfecta, type xvii skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_16126 Osteogenesis imperfecta, type xvii skos:exactMatch OMIM:616507 semapv:UnspecifiedMatching +obo:GARD_16127 Cataract 44 skos:broadMatch Orphanet:98994 semapv:UnspecifiedMatching +obo:GARD_16127 Cataract 44 skos:exactMatch OMIM:616509 semapv:UnspecifiedMatching +obo:GARD_16128 Maturity-onset diabetes of the young, type 14 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_16128 Maturity-onset diabetes of the young, type 14 skos:exactMatch OMIM:616511 semapv:UnspecifiedMatching +obo:GARD_16129 Achromatopsia 7 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +obo:GARD_16129 Achromatopsia 7 skos:exactMatch OMIM:616517 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:exactMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:133780 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:305390 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:601813 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:605750 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:613310 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:616468 semapv:UnspecifiedMatching +obo:GARD_1613 Familial exudative vitreoretinopathy skos:narrowMatch OMIM:617572 semapv:UnspecifiedMatching +obo:GARD_16130 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities skos:broadMatch Orphanet:98889 semapv:UnspecifiedMatching +obo:GARD_16130 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities skos:exactMatch OMIM:616531 semapv:UnspecifiedMatching +obo:GARD_16131 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +obo:GARD_16131 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 skos:exactMatch OMIM:616532 semapv:UnspecifiedMatching +obo:GARD_16132 Thyroid cancer, nonmedullary, 4 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_16132 Thyroid cancer, nonmedullary, 4 skos:exactMatch OMIM:616534 semapv:UnspecifiedMatching +obo:GARD_16133 Thyroid cancer, nonmedullary, 5 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_16133 Thyroid cancer, nonmedullary, 5 skos:exactMatch OMIM:616535 semapv:UnspecifiedMatching +obo:GARD_16134 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_16134 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 skos:exactMatch OMIM:616538 semapv:UnspecifiedMatching +obo:GARD_16135 Retinitis pigmentosa 73 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16135 Retinitis pigmentosa 73 skos:exactMatch OMIM:616544 semapv:UnspecifiedMatching +obo:GARD_16136 Dyskeratosis congenita, autosomal dominant 6 skos:broadMatch Orphanet:3322 semapv:UnspecifiedMatching +obo:GARD_16136 Dyskeratosis congenita, autosomal dominant 6 skos:broadMatch Orphanet:397692 semapv:UnspecifiedMatching +obo:GARD_16136 Dyskeratosis congenita, autosomal dominant 6 skos:exactMatch OMIM:616553 semapv:UnspecifiedMatching +obo:GARD_16137 Noonan syndrome 9 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_16137 Noonan syndrome 9 skos:exactMatch OMIM:616559 semapv:UnspecifiedMatching +obo:GARD_16138 Retinitis pigmentosa 74 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16138 Retinitis pigmentosa 74 skos:exactMatch OMIM:616562 semapv:UnspecifiedMatching +obo:GARD_16139 Noonan syndrome 10 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_16139 Noonan syndrome 10 skos:exactMatch OMIM:616564 semapv:UnspecifiedMatching +obo:GARD_1614 Cataract-nephropathy-encephalopathy syndrome skos:exactMatch Orphanet:1380 semapv:UnspecifiedMatching +obo:GARD_1614 Cataract-nephropathy-encephalopathy syndrome skos:narrowMatch OMIM:218900 semapv:UnspecifiedMatching +obo:GARD_16140 Cerebrooculofacioskeletal syndrome 3 skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +obo:GARD_16140 Cerebrooculofacioskeletal syndrome 3 skos:exactMatch OMIM:616570 semapv:UnspecifiedMatching +obo:GARD_16141 Immunodeficiency, common variable, 12, with autoimmunity skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_16141 Immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch OMIM:616576 semapv:UnspecifiedMatching +obo:GARD_16142 Adams-oliver syndrome 6 skos:broadMatch Orphanet:974 semapv:UnspecifiedMatching +obo:GARD_16142 Adams-oliver syndrome 6 skos:exactMatch OMIM:616589 semapv:UnspecifiedMatching +obo:GARD_16143 Cutis laxa, autosomal dominant 3 skos:broadMatch Orphanet:90348 semapv:UnspecifiedMatching +obo:GARD_16143 Cutis laxa, autosomal dominant 3 skos:exactMatch OMIM:616603 semapv:UnspecifiedMatching +obo:GARD_16144 Heimler syndrome 2 skos:broadMatch Orphanet:3220 semapv:UnspecifiedMatching +obo:GARD_16144 Heimler syndrome 2 skos:exactMatch OMIM:616617 semapv:UnspecifiedMatching +obo:GARD_16145 Senior-loken syndrome 9 skos:broadMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_16145 Senior-loken syndrome 9 skos:exactMatch OMIM:616629 semapv:UnspecifiedMatching +obo:GARD_16146 Porokeratosis 9, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_16146 Porokeratosis 9, multiple types skos:exactMatch OMIM:616631 semapv:UnspecifiedMatching +obo:GARD_16147 Developmental and epileptic encephalopathy 34 skos:broadMatch Orphanet:293181 semapv:UnspecifiedMatching +obo:GARD_16147 Developmental and epileptic encephalopathy 34 skos:exactMatch OMIM:616645 semapv:UnspecifiedMatching +obo:GARD_16148 Optic atrophy 8 skos:broadMatch Orphanet:1215 semapv:UnspecifiedMatching +obo:GARD_16148 Optic atrophy 8 skos:exactMatch OMIM:616648 semapv:UnspecifiedMatching +obo:GARD_16149 Spherocytosis, type 2 skos:broadMatch Orphanet:822 semapv:UnspecifiedMatching +obo:GARD_16149 Spherocytosis, type 2 skos:exactMatch OMIM:616649 semapv:UnspecifiedMatching +obo:GARD_16150 Joubert syndrome 24 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16150 Joubert syndrome 24 skos:exactMatch OMIM:616654 semapv:UnspecifiedMatching +obo:GARD_16151 Microcephaly 16, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16151 Microcephaly 16, primary, autosomal recessive skos:exactMatch OMIM:616681 semapv:UnspecifiedMatching +obo:GARD_16152 Dehydrated hereditary stomatocytosis 2 skos:broadMatch Orphanet:3202 semapv:UnspecifiedMatching +obo:GARD_16152 Dehydrated hereditary stomatocytosis 2 skos:exactMatch OMIM:616689 semapv:UnspecifiedMatching +obo:GARD_16153 Myasthenic syndrome, congenital, 19 skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_16153 Myasthenic syndrome, congenital, 19 skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16153 Myasthenic syndrome, congenital, 19 skos:exactMatch OMIM:616720 semapv:UnspecifiedMatching +obo:GARD_16154 Ciliary dyskinesia, primary, 33 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16154 Ciliary dyskinesia, primary, 33 skos:exactMatch OMIM:616726 semapv:UnspecifiedMatching +obo:GARD_16155 Nephrotic syndrome, type 11 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16155 Nephrotic syndrome, type 11 skos:exactMatch OMIM:616730 semapv:UnspecifiedMatching +obo:GARD_16156 Skin creases, congenital symmetric circumferential, 2 skos:broadMatch Orphanet:2505 semapv:UnspecifiedMatching +obo:GARD_16156 Skin creases, congenital symmetric circumferential, 2 skos:exactMatch OMIM:616734 semapv:UnspecifiedMatching +obo:GARD_16157 Woolly hair, autosomal recessive 3 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +obo:GARD_16157 Woolly hair, autosomal recessive 3 skos:exactMatch OMIM:616760 semapv:UnspecifiedMatching +obo:GARD_16158 Seckel syndrome 9 skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_16158 Seckel syndrome 9 skos:exactMatch OMIM:616777 semapv:UnspecifiedMatching +obo:GARD_16159 Joubert syndrome 25 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16159 Joubert syndrome 25 skos:exactMatch OMIM:616781 semapv:UnspecifiedMatching +obo:GARD_16160 Joubert syndrome 26 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16160 Joubert syndrome 26 skos:exactMatch OMIM:616784 semapv:UnspecifiedMatching +obo:GARD_16161 Neuroblastoma, susceptibility to, 7 skos:broadMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_16161 Neuroblastoma, susceptibility to, 7 skos:exactMatch OMIM:616792 semapv:UnspecifiedMatching +obo:GARD_16162 Wilms tumor 6 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_16162 Wilms tumor 6 skos:exactMatch OMIM:616806 semapv:UnspecifiedMatching +obo:GARD_16163 Meier-gorlin syndrome 6 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_16163 Meier-gorlin syndrome 6 skos:exactMatch OMIM:616835 semapv:UnspecifiedMatching +obo:GARD_16164 Brachydactyly, type a1, d skos:broadMatch Orphanet:93388 semapv:UnspecifiedMatching +obo:GARD_16164 Brachydactyly, type a1, d skos:exactMatch OMIM:616849 semapv:UnspecifiedMatching +obo:GARD_16165 Advanced sleep phase syndrome, familial, 3 skos:broadMatch Orphanet:164736 semapv:UnspecifiedMatching +obo:GARD_16165 Advanced sleep phase syndrome, familial, 3 skos:exactMatch OMIM:616882 semapv:UnspecifiedMatching +obo:GARD_16166 Nephrotic syndrome, type 12 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16166 Nephrotic syndrome, type 12 skos:exactMatch OMIM:616892 semapv:UnspecifiedMatching +obo:GARD_16167 Nephrotic syndrome, type 13 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16167 Nephrotic syndrome, type 13 skos:exactMatch OMIM:616893 semapv:UnspecifiedMatching +obo:GARD_16168 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +obo:GARD_16168 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch OMIM:616910 semapv:UnspecifiedMatching +obo:GARD_16169 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:broadMatch Orphanet:2268 semapv:UnspecifiedMatching +obo:GARD_16169 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch OMIM:616911 semapv:UnspecifiedMatching +obo:GARD_1617 Crossed polysyndactyly skos:exactMatch Orphanet:2935 semapv:UnspecifiedMatching +obo:GARD_1617 Crossed polysyndactyly skos:narrowMatch OMIM:175690 semapv:UnspecifiedMatching +obo:GARD_16170 Coffin-siris syndrome 5 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16170 Coffin-siris syndrome 5 skos:exactMatch OMIM:616938 semapv:UnspecifiedMatching +obo:GARD_16171 Agammaglobulinemia 8a, autosomal dominant skos:broadMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_16171 Agammaglobulinemia 8a, autosomal dominant skos:exactMatch OMIM:616941 semapv:UnspecifiedMatching +obo:GARD_16172 Trichothiodystrophy 6, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_16172 Trichothiodystrophy 6, nonphotosensitive skos:exactMatch OMIM:616943 semapv:UnspecifiedMatching +obo:GARD_16173 Spermatogenic failure 15 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16173 Spermatogenic failure 15 skos:exactMatch OMIM:616950 semapv:UnspecifiedMatching +obo:GARD_16174 Polycystic liver disease 2 with or without kidney cysts skos:broadMatch Orphanet:2924 semapv:UnspecifiedMatching +obo:GARD_16174 Polycystic liver disease 2 with or without kidney cysts skos:exactMatch OMIM:617004 semapv:UnspecifiedMatching +obo:GARD_16175 Developmental and epileptic encephalopathy 38 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16175 Developmental and epileptic encephalopathy 38 skos:exactMatch OMIM:617020 semapv:UnspecifiedMatching +obo:GARD_16176 Retinitis pigmentosa 75 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16176 Retinitis pigmentosa 75 skos:exactMatch OMIM:617023 semapv:UnspecifiedMatching +obo:GARD_16177 Night blindness, congenital stationary, type 1h skos:broadMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_16177 Night blindness, congenital stationary, type 1h skos:exactMatch OMIM:617024 semapv:UnspecifiedMatching +obo:GARD_16178 Pontocerebellar hypoplasia, type 2f skos:broadMatch Orphanet:2524 semapv:UnspecifiedMatching +obo:GARD_16178 Pontocerebellar hypoplasia, type 2f skos:exactMatch OMIM:617026 semapv:UnspecifiedMatching +obo:GARD_16180 Hermansky-pudlak syndrome 10 skos:broadMatch Orphanet:183678 semapv:UnspecifiedMatching +obo:GARD_16180 Hermansky-pudlak syndrome 10 skos:exactMatch OMIM:617050 semapv:UnspecifiedMatching +obo:GARD_16181 Meier-gorlin syndrome 7 skos:broadMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_16181 Meier-gorlin syndrome 7 skos:exactMatch OMIM:617063 semapv:UnspecifiedMatching +obo:GARD_16182 Developmental and epileptic encephalopathy 40 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_16182 Developmental and epileptic encephalopathy 40 skos:exactMatch OMIM:617065 semapv:UnspecifiedMatching +obo:GARD_16183 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 skos:broadMatch Orphanet:254886 semapv:UnspecifiedMatching +obo:GARD_16183 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 skos:exactMatch OMIM:617069 semapv:UnspecifiedMatching +obo:GARD_16184 Nasopharyngeal carcinoma, susceptibility to, 3 skos:broadMatch Orphanet:150 semapv:UnspecifiedMatching +obo:GARD_16184 Nasopharyngeal carcinoma, susceptibility to, 3 skos:exactMatch OMIM:617075 semapv:UnspecifiedMatching +obo:GARD_16185 Short-rib thoracic dysplasia 15 with polydactyly skos:broadMatch Orphanet:289 semapv:UnspecifiedMatching +obo:GARD_16185 Short-rib thoracic dysplasia 15 with polydactyly skos:broadMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_16185 Short-rib thoracic dysplasia 15 with polydactyly skos:exactMatch OMIM:617088 semapv:UnspecifiedMatching +obo:GARD_16186 Microcephaly 17, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16186 Microcephaly 17, primary, autosomal recessive skos:exactMatch OMIM:617090 semapv:UnspecifiedMatching +obo:GARD_16187 Ciliary dyskinesia, primary, 34 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16187 Ciliary dyskinesia, primary, 34 skos:exactMatch OMIM:617091 semapv:UnspecifiedMatching +obo:GARD_16188 Ciliary dyskinesia, primary, 35 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16188 Ciliary dyskinesia, primary, 35 skos:exactMatch OMIM:617092 semapv:UnspecifiedMatching +obo:GARD_16189 Short-rib thoracic dysplasia 16 with or without polydactyly skos:broadMatch Orphanet:1515 semapv:UnspecifiedMatching +obo:GARD_16189 Short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch OMIM:617102 semapv:UnspecifiedMatching +obo:GARD_16190 Developmental and epileptic encephalopathy 41 skos:broadMatch Orphanet:1935 semapv:UnspecifiedMatching +obo:GARD_16190 Developmental and epileptic encephalopathy 41 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16190 Developmental and epileptic encephalopathy 41 skos:exactMatch OMIM:617105 semapv:UnspecifiedMatching +obo:GARD_16191 Developmental and epileptic encephalopathy 42 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16191 Developmental and epileptic encephalopathy 42 skos:exactMatch OMIM:617106 semapv:UnspecifiedMatching +obo:GARD_16192 Developmental and epileptic encephalopathy 43 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +obo:GARD_16192 Developmental and epileptic encephalopathy 43 skos:exactMatch OMIM:617113 semapv:UnspecifiedMatching +obo:GARD_16193 Bardet-biedl syndrome 22 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16193 Bardet-biedl syndrome 22 skos:exactMatch OMIM:617119 semapv:UnspecifiedMatching +obo:GARD_16194 Joubert syndrome 27 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16194 Joubert syndrome 27 skos:exactMatch OMIM:617120 semapv:UnspecifiedMatching +obo:GARD_16195 Joubert syndrome 28 skos:broadMatch Orphanet:220493 semapv:UnspecifiedMatching +obo:GARD_16195 Joubert syndrome 28 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16195 Joubert syndrome 28 skos:exactMatch OMIM:617121 semapv:UnspecifiedMatching +obo:GARD_16196 Retinitis pigmentosa 76 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16196 Retinitis pigmentosa 76 skos:exactMatch OMIM:617123 semapv:UnspecifiedMatching +obo:GARD_16197 Orofaciodigital syndrome xv skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +obo:GARD_16197 Orofaciodigital syndrome xv skos:exactMatch OMIM:617127 semapv:UnspecifiedMatching +obo:GARD_16198 Developmental and epileptic encephalopathy 44 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16198 Developmental and epileptic encephalopathy 44 skos:exactMatch OMIM:617132 semapv:UnspecifiedMatching +obo:GARD_16199 Frontometaphyseal dysplasia 2 skos:broadMatch Orphanet:1826 semapv:UnspecifiedMatching +obo:GARD_16199 Frontometaphyseal dysplasia 2 skos:exactMatch OMIM:617137 semapv:UnspecifiedMatching +obo:GARD_162 Cleft palate-large ears-small head syndrome skos:exactMatch Orphanet:2013 semapv:UnspecifiedMatching +obo:GARD_162 Cleft palate-large ears-small head syndrome skos:narrowMatch OMIM:181180 semapv:UnspecifiedMatching +obo:GARD_1620 Cryptogenic organizing pneumonia skos:exactMatch Orphanet:1302 semapv:UnspecifiedMatching +obo:GARD_16200 Aniridia 2 skos:broadMatch Orphanet:250923 semapv:UnspecifiedMatching +obo:GARD_16200 Aniridia 2 skos:exactMatch OMIM:617141 semapv:UnspecifiedMatching +obo:GARD_16201 Aniridia 3 skos:broadMatch Orphanet:250923 semapv:UnspecifiedMatching +obo:GARD_16201 Aniridia 3 skos:exactMatch OMIM:617142 semapv:UnspecifiedMatching +obo:GARD_16202 Myasthenic syndrome, congenital, 20, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16202 Myasthenic syndrome, congenital, 20, presynaptic skos:exactMatch OMIM:617143 semapv:UnspecifiedMatching +obo:GARD_16203 Developmental and epileptic encephalopathy 45 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16203 Developmental and epileptic encephalopathy 45 skos:exactMatch OMIM:617153 semapv:UnspecifiedMatching +obo:GARD_16204 Myopathy, distal, with rimmed vacuoles skos:broadMatch Orphanet:602 semapv:UnspecifiedMatching +obo:GARD_16204 Myopathy, distal, with rimmed vacuoles skos:exactMatch OMIM:617158 semapv:UnspecifiedMatching +obo:GARD_16205 Developmental and epileptic encephalopathy 46 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16205 Developmental and epileptic encephalopathy 46 skos:exactMatch OMIM:617162 semapv:UnspecifiedMatching +obo:GARD_16206 Developmental and epileptic encephalopathy 47 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16206 Developmental and epileptic encephalopathy 47 skos:exactMatch OMIM:617166 semapv:UnspecifiedMatching +obo:GARD_16207 Aortic aneurysm, familial thoracic 10 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_16207 Aortic aneurysm, familial thoracic 10 skos:exactMatch OMIM:617168 semapv:UnspecifiedMatching +obo:GARD_16208 Intellectual developmental disorder, autosomal recessive 74 skos:broadMatch Orphanet:821 semapv:UnspecifiedMatching +obo:GARD_16208 Intellectual developmental disorder, autosomal recessive 74 skos:exactMatch OMIM:617169 semapv:UnspecifiedMatching +obo:GARD_16209 Ehlers-danlos syndrome, periodontal type, 2 skos:broadMatch Orphanet:75392 semapv:UnspecifiedMatching +obo:GARD_16209 Ehlers-danlos syndrome, periodontal type, 2 skos:exactMatch OMIM:617174 semapv:UnspecifiedMatching +obo:GARD_16210 Periventricular nodular heterotopia 7 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_16210 Periventricular nodular heterotopia 7 skos:exactMatch OMIM:617201 semapv:UnspecifiedMatching +obo:GARD_16211 Amelogenesis imperfecta, hypomaturation type, iia6 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_16211 Amelogenesis imperfecta, hypomaturation type, iia6 skos:exactMatch OMIM:617217 semapv:UnspecifiedMatching +obo:GARD_16212 Myasthenic syndrome, congenital, 21, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16212 Myasthenic syndrome, congenital, 21, presynaptic skos:exactMatch OMIM:617239 semapv:UnspecifiedMatching +obo:GARD_16213 Fanconi anemia, complementation group v skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_16213 Fanconi anemia, complementation group v skos:exactMatch OMIM:617243 semapv:UnspecifiedMatching +obo:GARD_16214 Fanconi anemia, complementation group r skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_16214 Fanconi anemia, complementation group r skos:exactMatch OMIM:617244 semapv:UnspecifiedMatching +obo:GARD_16215 Fanconi anemia, complementation group u skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_16215 Fanconi anemia, complementation group u skos:exactMatch OMIM:617247 semapv:UnspecifiedMatching +obo:GARD_16216 Uncombable hair syndrome 2 skos:broadMatch Orphanet:1410 semapv:UnspecifiedMatching +obo:GARD_16216 Uncombable hair syndrome 2 skos:exactMatch OMIM:617251 semapv:UnspecifiedMatching +obo:GARD_16217 Uncombable hair syndrome 3 skos:broadMatch Orphanet:1410 semapv:UnspecifiedMatching +obo:GARD_16217 Uncombable hair syndrome 3 skos:exactMatch OMIM:617252 semapv:UnspecifiedMatching +obo:GARD_16218 Developmental and epileptic encephalopathy 48 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16218 Developmental and epileptic encephalopathy 48 skos:exactMatch OMIM:617276 semapv:UnspecifiedMatching +obo:GARD_16219 Atrial fibrillation, familial, 18 skos:broadMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_16219 Atrial fibrillation, familial, 18 skos:exactMatch OMIM:617280 semapv:UnspecifiedMatching +obo:GARD_16220 Amelogenesis imperfecta, type ij skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_16220 Amelogenesis imperfecta, type ij skos:exactMatch OMIM:617297 semapv:UnspecifiedMatching +obo:GARD_16221 Retinitis pigmentosa 77 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16221 Retinitis pigmentosa 77 skos:exactMatch OMIM:617304 semapv:UnspecifiedMatching +obo:GARD_16222 Nemaline myopathy 11, autosomal recessive skos:broadMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_16222 Nemaline myopathy 11, autosomal recessive skos:exactMatch OMIM:617336 semapv:UnspecifiedMatching +obo:GARD_16223 Developmental and epileptic encephalopathy 52 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16223 Developmental and epileptic encephalopathy 52 skos:exactMatch OMIM:617350 semapv:UnspecifiedMatching +obo:GARD_16224 Developmental and epileptic encephalopathy 53 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16224 Developmental and epileptic encephalopathy 53 skos:exactMatch OMIM:617389 semapv:UnspecifiedMatching +obo:GARD_16225 Developmental and epileptic encephalopathy 54 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16225 Developmental and epileptic encephalopathy 54 skos:exactMatch OMIM:617391 semapv:UnspecifiedMatching +obo:GARD_16226 Bardet-biedl syndrome 21 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_16226 Bardet-biedl syndrome 21 skos:exactMatch OMIM:617406 semapv:UnspecifiedMatching +obo:GARD_16227 Diamond-blackfan anemia 16 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_16227 Diamond-blackfan anemia 16 skos:exactMatch OMIM:617408 semapv:UnspecifiedMatching +obo:GARD_16228 Diamond-blackfan anemia 17 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_16228 Diamond-blackfan anemia 17 skos:exactMatch OMIM:617409 semapv:UnspecifiedMatching +obo:GARD_16229 Retinitis pigmentosa 78 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16229 Retinitis pigmentosa 78 skos:exactMatch OMIM:617433 semapv:UnspecifiedMatching +obo:GARD_16230 Bleeding disorder, platelet-type, 21 skos:broadMatch Orphanet:851 semapv:UnspecifiedMatching +obo:GARD_16230 Bleeding disorder, platelet-type, 21 skos:exactMatch OMIM:617443 semapv:UnspecifiedMatching +obo:GARD_16231 Retinitis pigmentosa 79 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16231 Retinitis pigmentosa 79 skos:exactMatch OMIM:617460 semapv:UnspecifiedMatching +obo:GARD_16232 Neurodevelopmental disorder with involuntary movements skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16232 Neurodevelopmental disorder with involuntary movements skos:exactMatch OMIM:617493 semapv:UnspecifiedMatching +obo:GARD_16233 Microcephaly 18, primary, autosomal dominant skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +obo:GARD_16233 Microcephaly 18, primary, autosomal dominant skos:exactMatch OMIM:617520 semapv:UnspecifiedMatching +obo:GARD_16234 Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development skos:broadMatch Orphanet:2744 semapv:UnspecifiedMatching +obo:GARD_16234 Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development skos:exactMatch OMIM:617542 semapv:UnspecifiedMatching +obo:GARD_16235 Cohen-gibson syndrome skos:broadMatch Orphanet:3447 semapv:UnspecifiedMatching +obo:GARD_16235 Cohen-gibson syndrome skos:exactMatch OMIM:617561 semapv:UnspecifiedMatching +obo:GARD_16236 Meckel syndrome 13 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_16236 Meckel syndrome 13 skos:exactMatch OMIM:617562 semapv:UnspecifiedMatching +obo:GARD_16237 Perrault syndrome 6 skos:broadMatch Orphanet:2855 semapv:UnspecifiedMatching +obo:GARD_16237 Perrault syndrome 6 skos:exactMatch OMIM:617565 semapv:UnspecifiedMatching +obo:GARD_16238 Exudative vitreoretinopathy 7 skos:broadMatch Orphanet:891 semapv:UnspecifiedMatching +obo:GARD_16238 Exudative vitreoretinopathy 7 skos:exactMatch OMIM:617572 semapv:UnspecifiedMatching +obo:GARD_16239 Ciliary dyskinesia, primary, 37 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16239 Ciliary dyskinesia, primary, 37 skos:exactMatch OMIM:617577 semapv:UnspecifiedMatching +obo:GARD_16240 Mosaic variegated aneuploidy syndrome 3 skos:broadMatch Orphanet:1052 semapv:UnspecifiedMatching +obo:GARD_16240 Mosaic variegated aneuploidy syndrome 3 skos:exactMatch OMIM:617598 semapv:UnspecifiedMatching +obo:GARD_16241 Developmental and epileptic encephalopathy 55 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16241 Developmental and epileptic encephalopathy 55 skos:exactMatch OMIM:617599 semapv:UnspecifiedMatching +obo:GARD_16242 Polycystic kidney disease 5 skos:broadMatch Orphanet:731 semapv:UnspecifiedMatching +obo:GARD_16242 Polycystic kidney disease 5 skos:exactMatch OMIM:617610 semapv:UnspecifiedMatching +obo:GARD_16243 Joubert syndrome 30 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16243 Joubert syndrome 30 skos:exactMatch OMIM:617622 semapv:UnspecifiedMatching +obo:GARD_16244 Blepharocheilodontic syndrome 2 skos:broadMatch Orphanet:1997 semapv:UnspecifiedMatching +obo:GARD_16244 Blepharocheilodontic syndrome 2 skos:exactMatch OMIM:617681 semapv:UnspecifiedMatching +obo:GARD_16245 Spermatogenic failure 22 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16245 Spermatogenic failure 22 skos:exactMatch OMIM:617706 semapv:UnspecifiedMatching +obo:GARD_16246 Spermatogenic failure 23 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16246 Spermatogenic failure 23 skos:exactMatch OMIM:617707 semapv:UnspecifiedMatching +obo:GARD_16247 Galloway-mowat syndrome 3 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_16247 Galloway-mowat syndrome 3 skos:exactMatch OMIM:617729 semapv:UnspecifiedMatching +obo:GARD_16248 Galloway-mowat syndrome 4 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_16248 Galloway-mowat syndrome 4 skos:exactMatch OMIM:617730 semapv:UnspecifiedMatching +obo:GARD_16249 Galloway-mowat syndrome 5 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_16249 Galloway-mowat syndrome 5 skos:exactMatch OMIM:617731 semapv:UnspecifiedMatching +obo:GARD_16250 Myopathy, centronuclear, 6, with fiber-type disproportion skos:broadMatch Orphanet:2020 semapv:UnspecifiedMatching +obo:GARD_16250 Myopathy, centronuclear, 6, with fiber-type disproportion skos:exactMatch OMIM:617760 semapv:UnspecifiedMatching +obo:GARD_16251 Joubert syndrome 31 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16251 Joubert syndrome 31 skos:exactMatch OMIM:617761 semapv:UnspecifiedMatching +obo:GARD_16252 Retinitis pigmentosa 80 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16252 Retinitis pigmentosa 80 skos:exactMatch OMIM:617781 semapv:UnspecifiedMatching +obo:GARD_16253 Microcephaly 19, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16253 Microcephaly 19, primary, autosomal recessive skos:exactMatch OMIM:617800 semapv:UnspecifiedMatching +obo:GARD_16254 Coffin-siris syndrome 6 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16254 Coffin-siris syndrome 6 skos:exactMatch OMIM:617808 semapv:UnspecifiedMatching +obo:GARD_16255 Geleophysic dysplasia 3 skos:broadMatch Orphanet:2623 semapv:UnspecifiedMatching +obo:GARD_16255 Geleophysic dysplasia 3 skos:exactMatch OMIM:617809 semapv:UnspecifiedMatching +obo:GARD_16256 Ehlers-danlos syndrome, arthrochalasia type, 2 skos:broadMatch Orphanet:1899 semapv:UnspecifiedMatching +obo:GARD_16256 Ehlers-danlos syndrome, arthrochalasia type, 2 skos:exactMatch OMIM:617821 semapv:UnspecifiedMatching +obo:GARD_16257 Glucocorticoid deficiency 5 skos:broadMatch Orphanet:361 semapv:UnspecifiedMatching +obo:GARD_16257 Glucocorticoid deficiency 5 skos:exactMatch OMIM:617825 semapv:UnspecifiedMatching +obo:GARD_16258 Developmental and epileptic encephalopathy 92 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16258 Developmental and epileptic encephalopathy 92 skos:exactMatch OMIM:617829 semapv:UnspecifiedMatching +obo:GARD_16259 Developmental and epileptic encephalopathy 58 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16259 Developmental and epileptic encephalopathy 58 skos:exactMatch OMIM:617830 semapv:UnspecifiedMatching +obo:GARD_1626 Currarino syndrome skos:exactMatch Orphanet:1552 semapv:UnspecifiedMatching +obo:GARD_1626 Currarino syndrome skos:narrowMatch OMIM:176450 semapv:UnspecifiedMatching +obo:GARD_16260 Intellectual developmental disorder, autosomal dominant 55, with seizures skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16260 Intellectual developmental disorder, autosomal dominant 55, with seizures skos:exactMatch OMIM:617831 semapv:UnspecifiedMatching +obo:GARD_16261 Developmental delay and seizures with or without movement abnormalities skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16261 Developmental delay and seizures with or without movement abnormalities skos:exactMatch OMIM:617836 semapv:UnspecifiedMatching +obo:GARD_16262 Amyotrophic lateral sclerosis 23 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_16262 Amyotrophic lateral sclerosis 23 skos:exactMatch OMIM:617839 semapv:UnspecifiedMatching +obo:GARD_16263 Li-fraumeni syndrome 2 skos:broadMatch Orphanet:524 semapv:UnspecifiedMatching +obo:GARD_16263 Li-fraumeni syndrome 2 skos:exactMatch OMIM:609265 semapv:UnspecifiedMatching +obo:GARD_16264 Fanconi anemia, complementation group s skos:broadMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_16264 Fanconi anemia, complementation group s skos:exactMatch OMIM:617883 semapv:UnspecifiedMatching +obo:GARD_16265 Amyotrophic lateral sclerosis, susceptibility to, 24 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_16265 Amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch OMIM:617892 semapv:UnspecifiedMatching +obo:GARD_16266 Leukodystrophy, hypomyelinating, 14 skos:broadMatch Orphanet:139441 semapv:UnspecifiedMatching +obo:GARD_16266 Leukodystrophy, hypomyelinating, 14 skos:exactMatch OMIM:617899 semapv:UnspecifiedMatching +obo:GARD_16267 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:broadMatch Orphanet:1930 semapv:UnspecifiedMatching +obo:GARD_16267 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:exactMatch OMIM:617900 semapv:UnspecifiedMatching +obo:GARD_16268 Microcephaly 20, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16268 Microcephaly 20, primary, autosomal recessive skos:exactMatch OMIM:617914 semapv:UnspecifiedMatching +obo:GARD_16269 Epilepsy, juvenile myoclonic, susceptibility to, 10 skos:broadMatch Orphanet:307 semapv:UnspecifiedMatching +obo:GARD_16269 Epilepsy, juvenile myoclonic, susceptibility to, 10 skos:exactMatch OMIM:617924 semapv:UnspecifiedMatching +obo:GARD_16270 Developmental and epileptic encephalopathy 60 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_16270 Developmental and epileptic encephalopathy 60 skos:exactMatch OMIM:617929 semapv:UnspecifiedMatching +obo:GARD_16271 Developmental and epileptic encephalopathy 62 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16271 Developmental and epileptic encephalopathy 62 skos:exactMatch OMIM:617938 semapv:UnspecifiedMatching +obo:GARD_16272 Shwachman-diamond syndrome 2 skos:broadMatch Orphanet:811 semapv:UnspecifiedMatching +obo:GARD_16272 Shwachman-diamond syndrome 2 skos:exactMatch OMIM:617941 semapv:UnspecifiedMatching +obo:GARD_16273 Elliptocytosis 3 skos:broadMatch Orphanet:288 semapv:UnspecifiedMatching +obo:GARD_16273 Elliptocytosis 3 skos:exactMatch OMIM:617948 semapv:UnspecifiedMatching +obo:GARD_16274 Spermatogenic failure 25 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16274 Spermatogenic failure 25 skos:exactMatch OMIM:617960 semapv:UnspecifiedMatching +obo:GARD_16275 Rh-null, amorph type skos:broadMatch Orphanet:71275 semapv:UnspecifiedMatching +obo:GARD_16275 Rh-null, amorph type skos:exactMatch OMIM:617970 semapv:UnspecifiedMatching +obo:GARD_16276 Methemoglobinemia, beta type skos:broadMatch Orphanet:330041 semapv:UnspecifiedMatching +obo:GARD_16276 Methemoglobinemia, beta type skos:exactMatch OMIM:617971 semapv:UnspecifiedMatching +obo:GARD_16277 Methemoglobinemia, alpha type skos:broadMatch Orphanet:330041 semapv:UnspecifiedMatching +obo:GARD_16277 Methemoglobinemia, alpha type skos:exactMatch OMIM:617973 semapv:UnspecifiedMatching +obo:GARD_16278 Microcephaly 21, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16278 Microcephaly 21, primary, autosomal recessive skos:exactMatch OMIM:617983 semapv:UnspecifiedMatching +obo:GARD_16279 Microcephaly 22, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16279 Microcephaly 22, primary, autosomal recessive skos:exactMatch OMIM:617984 semapv:UnspecifiedMatching +obo:GARD_16280 Microcephaly 23, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16280 Microcephaly 23, primary, autosomal recessive skos:exactMatch OMIM:617985 semapv:UnspecifiedMatching +obo:GARD_16281 Tumoral calcinosis, hyperphosphatemic, familial, 2 skos:broadMatch Orphanet:306661 semapv:UnspecifiedMatching +obo:GARD_16281 Tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch OMIM:617993 semapv:UnspecifiedMatching +obo:GARD_16282 Tumoral calcinosis, hyperphosphatemic, familial, 3 skos:broadMatch Orphanet:306661 semapv:UnspecifiedMatching +obo:GARD_16282 Tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch OMIM:617994 semapv:UnspecifiedMatching +obo:GARD_16283 Developmental and epileptic encephalopathy 65 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16283 Developmental and epileptic encephalopathy 65 skos:exactMatch OMIM:618008 semapv:UnspecifiedMatching +obo:GARD_16284 Hyperekplexia 4 skos:broadMatch Orphanet:3197 semapv:UnspecifiedMatching +obo:GARD_16284 Hyperekplexia 4 skos:exactMatch OMIM:618011 semapv:UnspecifiedMatching +obo:GARD_16285 Developmental and epileptic encephalopathy 93 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16285 Developmental and epileptic encephalopathy 93 skos:exactMatch OMIM:618012 semapv:UnspecifiedMatching +obo:GARD_16286 Tetraamelia syndrome 2 skos:broadMatch Orphanet:3301 semapv:UnspecifiedMatching +obo:GARD_16286 Tetraamelia syndrome 2 skos:exactMatch OMIM:618021 semapv:UnspecifiedMatching +obo:GARD_16287 Coffin-siris syndrome 7 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16287 Coffin-siris syndrome 7 skos:exactMatch OMIM:618027 semapv:UnspecifiedMatching +obo:GARD_16288 Ciliary dyskinesia, primary, 38 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16288 Ciliary dyskinesia, primary, 38 skos:exactMatch OMIM:618063 semapv:UnspecifiedMatching +obo:GARD_16289 Pontocerebellar hypoplasia, type 1d skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_16289 Pontocerebellar hypoplasia, type 1d skos:exactMatch OMIM:618065 semapv:UnspecifiedMatching +obo:GARD_1629 Cutaneous larva migrans skos:exactMatch Orphanet:423717 semapv:UnspecifiedMatching +obo:GARD_16290 Spermatogenic failure 28 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16290 Spermatogenic failure 28 skos:exactMatch OMIM:618086 semapv:UnspecifiedMatching +obo:GARD_16291 Spermatogenic failure 30 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16291 Spermatogenic failure 30 skos:exactMatch OMIM:618110 semapv:UnspecifiedMatching +obo:GARD_16292 Spermatogenic failure 32 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16292 Spermatogenic failure 32 skos:exactMatch OMIM:618115 semapv:UnspecifiedMatching +obo:GARD_16293 Polydactyly, postaxial, type a8 skos:broadMatch Orphanet:289 semapv:UnspecifiedMatching +obo:GARD_16293 Polydactyly, postaxial, type a8 skos:exactMatch OMIM:618123 semapv:UnspecifiedMatching +obo:GARD_16294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 skos:broadMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_16294 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 8 skos:exactMatch OMIM:618135 semapv:UnspecifiedMatching +obo:GARD_16295 Developmental and epileptic encephalopathy 67 skos:broadMatch Orphanet:2382 semapv:UnspecifiedMatching +obo:GARD_16295 Developmental and epileptic encephalopathy 67 skos:exactMatch OMIM:618141 semapv:UnspecifiedMatching +obo:GARD_16296 Hennekam lymphangiectasia-lymphedema syndrome 3 skos:broadMatch Orphanet:2136 semapv:UnspecifiedMatching +obo:GARD_16296 Hennekam lymphangiectasia-lymphedema syndrome 3 skos:exactMatch OMIM:618154 semapv:UnspecifiedMatching +obo:GARD_16297 Joubert syndrome 35 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16297 Joubert syndrome 35 skos:exactMatch OMIM:618161 semapv:UnspecifiedMatching +obo:GARD_16298 Retinitis pigmentosa 83 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16298 Retinitis pigmentosa 83 skos:exactMatch OMIM:618173 semapv:UnspecifiedMatching +obo:GARD_16299 Nephrotic syndrome, type 17 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16299 Nephrotic syndrome, type 17 skos:exactMatch OMIM:618176 semapv:UnspecifiedMatching +obo:GARD_16300 Nephrotic syndrome, type 18 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16300 Nephrotic syndrome, type 18 skos:exactMatch OMIM:618177 semapv:UnspecifiedMatching +obo:GARD_16301 Nephrotic syndrome, type 19 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16301 Nephrotic syndrome, type 19 skos:exactMatch OMIM:618178 semapv:UnspecifiedMatching +obo:GARD_16302 Microcephaly 24, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16302 Microcephaly 24, primary, autosomal recessive skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16302 Microcephaly 24, primary, autosomal recessive skos:exactMatch OMIM:618179 semapv:UnspecifiedMatching +obo:GARD_16303 Periventricular nodular heterotopia 8 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_16303 Periventricular nodular heterotopia 8 skos:exactMatch OMIM:618185 semapv:UnspecifiedMatching +obo:GARD_16304 Hyperparathyroidism, transient neonatal skos:broadMatch Orphanet:417 semapv:UnspecifiedMatching +obo:GARD_16304 Hyperparathyroidism, transient neonatal skos:exactMatch OMIM:618188 semapv:UnspecifiedMatching +obo:GARD_16305 Cardiomyopathy, dilated, 2c skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_16305 Cardiomyopathy, dilated, 2c skos:exactMatch OMIM:618189 semapv:UnspecifiedMatching +obo:GARD_16306 Intellectual developmental disorder and retinitis pigmentosa skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16306 Intellectual developmental disorder and retinitis pigmentosa skos:exactMatch OMIM:618195 semapv:UnspecifiedMatching +obo:GARD_16307 Capillary malformation-arteriovenous malformation 2 skos:broadMatch Orphanet:1053 semapv:UnspecifiedMatching +obo:GARD_16307 Capillary malformation-arteriovenous malformation 2 skos:exactMatch OMIM:618196 semapv:UnspecifiedMatching +obo:GARD_16308 Myasthenic syndrome, congenital, 23, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16308 Myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch OMIM:618197 semapv:UnspecifiedMatching +obo:GARD_16309 Myasthenic syndrome, congenital, 24, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16309 Myasthenic syndrome, congenital, 24, presynaptic skos:exactMatch OMIM:618198 semapv:UnspecifiedMatching +obo:GARD_16310 Developmental and epileptic encephalopathy 68 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16310 Developmental and epileptic encephalopathy 68 skos:exactMatch OMIM:618201 semapv:UnspecifiedMatching +obo:GARD_16311 Retinitis pigmentosa 84 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16311 Retinitis pigmentosa 84 skos:exactMatch OMIM:618220 semapv:UnspecifiedMatching +obo:GARD_16312 Mitochondrial complex i deficiency, nuclear type 2 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16312 Mitochondrial complex i deficiency, nuclear type 2 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16312 Mitochondrial complex i deficiency, nuclear type 2 skos:exactMatch OMIM:618222 semapv:UnspecifiedMatching +obo:GARD_16313 Mitochondrial complex i deficiency, nuclear type 3 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16313 Mitochondrial complex i deficiency, nuclear type 3 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16313 Mitochondrial complex i deficiency, nuclear type 3 skos:exactMatch OMIM:618224 semapv:UnspecifiedMatching +obo:GARD_16314 Mitochondrial complex i deficiency, nuclear type 4 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16314 Mitochondrial complex i deficiency, nuclear type 4 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16314 Mitochondrial complex i deficiency, nuclear type 4 skos:exactMatch OMIM:618225 semapv:UnspecifiedMatching +obo:GARD_16315 Mitochondrial complex i deficiency, nuclear type 5 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16315 Mitochondrial complex i deficiency, nuclear type 5 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16315 Mitochondrial complex i deficiency, nuclear type 5 skos:exactMatch OMIM:618226 semapv:UnspecifiedMatching +obo:GARD_16316 Mitochondrial complex i deficiency, nuclear type 6 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16316 Mitochondrial complex i deficiency, nuclear type 6 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16316 Mitochondrial complex i deficiency, nuclear type 6 skos:broadMatch Orphanet:70474 semapv:UnspecifiedMatching +obo:GARD_16316 Mitochondrial complex i deficiency, nuclear type 6 skos:exactMatch OMIM:618228 semapv:UnspecifiedMatching +obo:GARD_16317 Mitochondrial complex i deficiency, nuclear type 7 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16317 Mitochondrial complex i deficiency, nuclear type 7 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16317 Mitochondrial complex i deficiency, nuclear type 7 skos:exactMatch OMIM:618229 semapv:UnspecifiedMatching +obo:GARD_16318 Mitochondrial complex i deficiency, nuclear type 8 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16318 Mitochondrial complex i deficiency, nuclear type 8 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16318 Mitochondrial complex i deficiency, nuclear type 8 skos:exactMatch OMIM:618230 semapv:UnspecifiedMatching +obo:GARD_16319 Mitochondrial complex i deficiency, nuclear type 9 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16319 Mitochondrial complex i deficiency, nuclear type 9 skos:exactMatch OMIM:618232 semapv:UnspecifiedMatching +obo:GARD_16320 Mitochondrial complex i deficiency, nuclear type 10 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16320 Mitochondrial complex i deficiency, nuclear type 10 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16320 Mitochondrial complex i deficiency, nuclear type 10 skos:exactMatch OMIM:618233 semapv:UnspecifiedMatching +obo:GARD_16321 Mitochondrial complex i deficiency, nuclear type 11 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16321 Mitochondrial complex i deficiency, nuclear type 11 skos:exactMatch OMIM:618234 semapv:UnspecifiedMatching +obo:GARD_16322 Mitochondrial complex i deficiency, nuclear type 14 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16322 Mitochondrial complex i deficiency, nuclear type 14 skos:exactMatch OMIM:618236 semapv:UnspecifiedMatching +obo:GARD_16323 Mitochondrial complex i deficiency, nuclear type 15 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16323 Mitochondrial complex i deficiency, nuclear type 15 skos:exactMatch OMIM:618237 semapv:UnspecifiedMatching +obo:GARD_16324 Mitochondrial complex i deficiency, nuclear type 16 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16324 Mitochondrial complex i deficiency, nuclear type 16 skos:exactMatch OMIM:618238 semapv:UnspecifiedMatching +obo:GARD_16325 Mitochondrial complex i deficiency, nuclear type 18 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16325 Mitochondrial complex i deficiency, nuclear type 18 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16325 Mitochondrial complex i deficiency, nuclear type 18 skos:exactMatch OMIM:618240 semapv:UnspecifiedMatching +obo:GARD_16326 Mitochondrial complex i deficiency, nuclear type 19 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_16326 Mitochondrial complex i deficiency, nuclear type 19 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16326 Mitochondrial complex i deficiency, nuclear type 19 skos:exactMatch OMIM:618241 semapv:UnspecifiedMatching +obo:GARD_16327 Mitochondrial complex i deficiency, nuclear type 21 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16327 Mitochondrial complex i deficiency, nuclear type 21 skos:exactMatch OMIM:618242 semapv:UnspecifiedMatching +obo:GARD_16328 Mitochondrial complex i deficiency, nuclear type 24 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16328 Mitochondrial complex i deficiency, nuclear type 24 skos:exactMatch OMIM:618245 semapv:UnspecifiedMatching +obo:GARD_16329 Mitochondrial complex i deficiency, nuclear type 25 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16329 Mitochondrial complex i deficiency, nuclear type 25 skos:exactMatch OMIM:618246 semapv:UnspecifiedMatching +obo:GARD_1633 Cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch Orphanet:2881 semapv:UnspecifiedMatching +obo:GARD_1633 Cutaneous photosensitivity-lethal colitis syndrome skos:narrowMatch OMIM:219095 semapv:UnspecifiedMatching +obo:GARD_16330 Mitochondrial complex i deficiency, nuclear type 29 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16330 Mitochondrial complex i deficiency, nuclear type 29 skos:exactMatch OMIM:618250 semapv:UnspecifiedMatching +obo:GARD_16331 Mitochondrial complex i deficiency, nuclear type 31 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16331 Mitochondrial complex i deficiency, nuclear type 31 skos:exactMatch OMIM:618251 semapv:UnspecifiedMatching +obo:GARD_16332 Mitochondrial complex i deficiency, nuclear type 33 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16332 Mitochondrial complex i deficiency, nuclear type 33 skos:exactMatch OMIM:618253 semapv:UnspecifiedMatching +obo:GARD_16333 Mirror movements 4 skos:broadMatch Orphanet:238722 semapv:UnspecifiedMatching +obo:GARD_16333 Mirror movements 4 skos:exactMatch OMIM:618264 semapv:UnspecifiedMatching +obo:GARD_16334 Epidermodysplasia verruciformis, susceptibility to, 3 skos:broadMatch Orphanet:302 semapv:UnspecifiedMatching +obo:GARD_16334 Epidermodysplasia verruciformis, susceptibility to, 3 skos:exactMatch OMIM:618267 semapv:UnspecifiedMatching +obo:GARD_16335 Hypotrichosis 14 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_16335 Hypotrichosis 14 skos:exactMatch OMIM:618275 semapv:UnspecifiedMatching +obo:GARD_16336 Developmental and epileptic encephalopathy 70 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_16336 Developmental and epileptic encephalopathy 70 skos:exactMatch OMIM:618298 semapv:UnspecifiedMatching +obo:GARD_16337 Epidermodysplasia verruciformis, susceptibility to, 5 skos:broadMatch Orphanet:302 semapv:UnspecifiedMatching +obo:GARD_16337 Epidermodysplasia verruciformis, susceptibility to, 5 skos:exactMatch OMIM:618309 semapv:UnspecifiedMatching +obo:GARD_16338 Diamond-blackfan anemia 18 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_16338 Diamond-blackfan anemia 18 skos:exactMatch OMIM:618310 semapv:UnspecifiedMatching +obo:GARD_16339 Diamond-blackfan anemia 19 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_16339 Diamond-blackfan anemia 19 skos:exactMatch OMIM:618312 semapv:UnspecifiedMatching +obo:GARD_16340 Diamond-blackfan anemia 20 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_16340 Diamond-blackfan anemia 20 skos:exactMatch OMIM:618313 semapv:UnspecifiedMatching +obo:GARD_16341 Myasthenic syndrome, congenital, 25, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_16341 Myasthenic syndrome, congenital, 25, presynaptic skos:exactMatch OMIM:618323 semapv:UnspecifiedMatching +obo:GARD_16342 Retinitis pigmentosa 85 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16342 Retinitis pigmentosa 85 skos:exactMatch OMIM:618345 semapv:UnspecifiedMatching +obo:GARD_16343 Galloway-mowat syndrome 6 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_16343 Galloway-mowat syndrome 6 skos:exactMatch OMIM:618347 semapv:UnspecifiedMatching +obo:GARD_16344 Galloway-mowat syndrome 7 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_16344 Galloway-mowat syndrome 7 skos:exactMatch OMIM:618348 semapv:UnspecifiedMatching +obo:GARD_16345 Galloway-mowat syndrome 8 skos:broadMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_16345 Galloway-mowat syndrome 8 skos:exactMatch OMIM:618349 semapv:UnspecifiedMatching +obo:GARD_16346 Microcephaly 25, primary, autosomal recessive skos:broadMatch Orphanet:2512 semapv:UnspecifiedMatching +obo:GARD_16346 Microcephaly 25, primary, autosomal recessive skos:exactMatch OMIM:618351 semapv:UnspecifiedMatching +obo:GARD_16347 Coffin-siris syndrome 8 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16347 Coffin-siris syndrome 8 skos:exactMatch OMIM:618362 semapv:UnspecifiedMatching +obo:GARD_16348 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:broadMatch Orphanet:93359 semapv:UnspecifiedMatching +obo:GARD_16348 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch OMIM:618395 semapv:UnspecifiedMatching +obo:GARD_16349 Developmental and epileptic encephalopathy 74 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16349 Developmental and epileptic encephalopathy 74 skos:exactMatch OMIM:618396 semapv:UnspecifiedMatching +obo:GARD_16350 Cataract 48 skos:broadMatch Orphanet:98994 semapv:UnspecifiedMatching +obo:GARD_16350 Cataract 48 skos:exactMatch OMIM:618415 semapv:UnspecifiedMatching +obo:GARD_16351 Arthrogryposis, distal, type 2b2 skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +obo:GARD_16351 Arthrogryposis, distal, type 2b2 skos:broadMatch Orphanet:1147 semapv:UnspecifiedMatching +obo:GARD_16351 Arthrogryposis, distal, type 2b2 skos:exactMatch OMIM:618435 semapv:UnspecifiedMatching +obo:GARD_16352 Developmental and epileptic encephalopathy 75 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16352 Developmental and epileptic encephalopathy 75 skos:exactMatch OMIM:618437 semapv:UnspecifiedMatching +obo:GARD_16353 Ciliary dyskinesia, primary, 41 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16353 Ciliary dyskinesia, primary, 41 skos:exactMatch OMIM:618449 semapv:UnspecifiedMatching +obo:GARD_16354 Paragangliomas 6 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_16354 Paragangliomas 6 skos:exactMatch OMIM:618464 semapv:UnspecifiedMatching +obo:GARD_16355 Developmental and epileptic encephalopathy 76 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16355 Developmental and epileptic encephalopathy 76 skos:exactMatch OMIM:618468 semapv:UnspecifiedMatching +obo:GARD_16356 Paragangliomas 7 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_16356 Paragangliomas 7 skos:exactMatch OMIM:618475 semapv:UnspecifiedMatching +obo:GARD_16357 Noonan syndrome 11 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_16357 Noonan syndrome 11 skos:exactMatch OMIM:618499 semapv:UnspecifiedMatching +obo:GARD_16358 Coffin-siris syndrome 10 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16358 Coffin-siris syndrome 10 skos:exactMatch OMIM:618506 semapv:UnspecifiedMatching +obo:GARD_16359 Leber congenital amaurosis 19 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_16359 Leber congenital amaurosis 19 skos:exactMatch OMIM:618513 semapv:UnspecifiedMatching +obo:GARD_16360 Immunodeficiency 64 skos:broadMatch Orphanet:3261 semapv:UnspecifiedMatching +obo:GARD_16360 Immunodeficiency 64 skos:exactMatch OMIM:618534 semapv:UnspecifiedMatching +obo:GARD_16361 Ectodermal dysplasia 15, hypohidrotic/hair type skos:broadMatch Orphanet:248 semapv:UnspecifiedMatching +obo:GARD_16361 Ectodermal dysplasia 15, hypohidrotic/hair type skos:exactMatch OMIM:618535 semapv:UnspecifiedMatching +obo:GARD_16362 Trichothiodystrophy 7, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_16362 Trichothiodystrophy 7, nonphotosensitive skos:exactMatch OMIM:618546 semapv:UnspecifiedMatching +obo:GARD_16363 Multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16363 Multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch OMIM:618548 semapv:UnspecifiedMatching +obo:GARD_16364 Night blindness, congenital stationary, type1i skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_16364 Night blindness, congenital stationary, type1i skos:exactMatch OMIM:618555 semapv:UnspecifiedMatching +obo:GARD_16365 Developmental and epileptic encephalopathy 78 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16365 Developmental and epileptic encephalopathy 78 skos:exactMatch OMIM:618557 semapv:UnspecifiedMatching +obo:GARD_16366 Developmental and epileptic encephalopathy 79 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16366 Developmental and epileptic encephalopathy 79 skos:exactMatch OMIM:618559 semapv:UnspecifiedMatching +obo:GARD_16367 Intellectual developmental disorder, autosomal dominant 60, with seizures skos:broadMatch Orphanet:1942 semapv:UnspecifiedMatching +obo:GARD_16367 Intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch OMIM:618587 semapv:UnspecifiedMatching +obo:GARD_16368 Retinitis pigmentosa 86 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16368 Retinitis pigmentosa 86 skos:exactMatch OMIM:618613 semapv:UnspecifiedMatching +obo:GARD_16369 Noonan syndrome 12 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_16369 Noonan syndrome 12 skos:exactMatch OMIM:618624 semapv:UnspecifiedMatching +obo:GARD_16370 Usher syndrome, type 1m skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_16370 Usher syndrome, type 1m skos:exactMatch OMIM:618632 semapv:UnspecifiedMatching +obo:GARD_16371 Zimmermann-laband syndrome 3 skos:broadMatch Orphanet:3473 semapv:UnspecifiedMatching +obo:GARD_16371 Zimmermann-laband syndrome 3 skos:exactMatch OMIM:618658 semapv:UnspecifiedMatching +obo:GARD_16372 Sitosterolemia 2 skos:broadMatch Orphanet:2882 semapv:UnspecifiedMatching +obo:GARD_16372 Sitosterolemia 2 skos:exactMatch OMIM:618666 semapv:UnspecifiedMatching +obo:GARD_16373 Ciliary dyskinesia, primary, 42 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16373 Ciliary dyskinesia, primary, 42 skos:exactMatch OMIM:618695 semapv:UnspecifiedMatching +obo:GARD_16374 Retinitis pigmentosa 87 with choroidal involvement skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16374 Retinitis pigmentosa 87 with choroidal involvement skos:exactMatch OMIM:618697 semapv:UnspecifiedMatching +obo:GARD_16375 Neutropenia, severe congenital, 8, autosomal dominant skos:broadMatch Orphanet:486 semapv:UnspecifiedMatching +obo:GARD_16375 Neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch OMIM:618752 semapv:UnspecifiedMatching +obo:GARD_16376 Joubert syndrome 36 skos:broadMatch Orphanet:2754 semapv:UnspecifiedMatching +obo:GARD_16376 Joubert syndrome 36 skos:exactMatch OMIM:618763 semapv:UnspecifiedMatching +obo:GARD_16377 Mitochondrial complex iii deficiency, nuclear type 10 skos:broadMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_16377 Mitochondrial complex iii deficiency, nuclear type 10 skos:exactMatch OMIM:618775 semapv:UnspecifiedMatching +obo:GARD_16378 Mitochondrial complex i deficiency, nuclear type 34 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16378 Mitochondrial complex i deficiency, nuclear type 34 skos:exactMatch OMIM:618776 semapv:UnspecifiedMatching +obo:GARD_16379 Coffin-siris syndrome 11 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16379 Coffin-siris syndrome 11 skos:exactMatch OMIM:618779 semapv:UnspecifiedMatching +obo:GARD_1638 Autosomal recessive cutis laxa type 2A skos:exactMatch Orphanet:357058 semapv:UnspecifiedMatching +obo:GARD_1638 Autosomal recessive cutis laxa type 2A skos:narrowMatch OMIM:219200 semapv:UnspecifiedMatching +obo:GARD_1638 Autosomal recessive cutis laxa type 2A skos:narrowMatch OMIM:278250 semapv:UnspecifiedMatching +obo:GARD_16380 Ciliary dyskinesia, primary, 44 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16380 Ciliary dyskinesia, primary, 44 skos:exactMatch OMIM:618781 semapv:UnspecifiedMatching +obo:GARD_16381 Imagawa-matsumoto syndrome skos:broadMatch Orphanet:3447 semapv:UnspecifiedMatching +obo:GARD_16381 Imagawa-matsumoto syndrome skos:exactMatch OMIM:618786 semapv:UnspecifiedMatching +obo:GARD_16382 Juvenile arthritis skos:broadMatch Orphanet:85414 semapv:UnspecifiedMatching +obo:GARD_16382 Juvenile arthritis skos:exactMatch OMIM:618795 semapv:UnspecifiedMatching +obo:GARD_16383 Ciliary dyskinesia, primary, 45 skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_16383 Ciliary dyskinesia, primary, 45 skos:exactMatch OMIM:618801 semapv:UnspecifiedMatching +obo:GARD_16384 Basal ganglia calcification, idiopathic, 8, autosomal recessive skos:broadMatch Orphanet:1980 semapv:UnspecifiedMatching +obo:GARD_16384 Basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch OMIM:618824 semapv:UnspecifiedMatching +obo:GARD_16385 Retinitis pigmentosa 88 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_16385 Retinitis pigmentosa 88 skos:exactMatch OMIM:618826 semapv:UnspecifiedMatching +obo:GARD_16386 Alopecia-intellectual disability syndrome 4 skos:broadMatch Orphanet:2850 semapv:UnspecifiedMatching +obo:GARD_16386 Alopecia-intellectual disability syndrome 4 skos:exactMatch OMIM:618840 semapv:UnspecifiedMatching +obo:GARD_16387 Hypogonadotropic hypogonadism 25 with anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_16387 Hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch OMIM:618841 semapv:UnspecifiedMatching +obo:GARD_16388 Diabetes mellitus, permanent neonatal, 2 skos:broadMatch Orphanet:99885 semapv:UnspecifiedMatching +obo:GARD_16388 Diabetes mellitus, permanent neonatal, 2 skos:exactMatch OMIM:618856 semapv:UnspecifiedMatching +obo:GARD_16389 Diabetes mellitus, permanent neonatal, 3 skos:broadMatch Orphanet:99885 semapv:UnspecifiedMatching +obo:GARD_16389 Diabetes mellitus, permanent neonatal, 3 skos:exactMatch OMIM:618857 semapv:UnspecifiedMatching +obo:GARD_1639 Autosomal dominant cutis laxa skos:exactMatch Orphanet:90348 semapv:UnspecifiedMatching +obo:GARD_1639 Autosomal dominant cutis laxa skos:narrowMatch OMIM:123700 semapv:UnspecifiedMatching +obo:GARD_1639 Autosomal dominant cutis laxa skos:narrowMatch OMIM:614434 semapv:UnspecifiedMatching +obo:GARD_1639 Autosomal dominant cutis laxa skos:narrowMatch OMIM:616603 semapv:UnspecifiedMatching +obo:GARD_16390 Diabetes mellitus, permanent neonatal, 4 skos:broadMatch Orphanet:99885 semapv:UnspecifiedMatching +obo:GARD_16390 Diabetes mellitus, permanent neonatal, 4 skos:exactMatch OMIM:618858 semapv:UnspecifiedMatching +obo:GARD_16391 Developmental and epileptic encephalopathy 86 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16391 Developmental and epileptic encephalopathy 86 skos:exactMatch OMIM:618910 semapv:UnspecifiedMatching +obo:GARD_16392 Fanconi renotubular syndrome 5 skos:broadMatch Orphanet:3337 semapv:UnspecifiedMatching +obo:GARD_16392 Fanconi renotubular syndrome 5 skos:exactMatch OMIM:618913 semapv:UnspecifiedMatching +obo:GARD_16393 Developmental and epileptic encephalopathy 87 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16393 Developmental and epileptic encephalopathy 87 skos:exactMatch OMIM:618916 semapv:UnspecifiedMatching +obo:GARD_16394 Periventricular nodular heterotopia 9 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_16394 Periventricular nodular heterotopia 9 skos:exactMatch OMIM:618918 semapv:UnspecifiedMatching +obo:GARD_16395 Granulomatous disease, chronic, autosomal recessive, 5 skos:broadMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_16395 Granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch OMIM:618935 semapv:UnspecifiedMatching +obo:GARD_16396 Treacher collins syndrome 4 skos:broadMatch Orphanet:861 semapv:UnspecifiedMatching +obo:GARD_16396 Treacher collins syndrome 4 skos:exactMatch OMIM:618939 semapv:UnspecifiedMatching +obo:GARD_16397 Oculopharyngodistal myopathy 2 skos:broadMatch Orphanet:98897 semapv:UnspecifiedMatching +obo:GARD_16397 Oculopharyngodistal myopathy 2 skos:exactMatch OMIM:618940 semapv:UnspecifiedMatching +obo:GARD_16398 Developmental and epileptic encephalopathy 88 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16398 Developmental and epileptic encephalopathy 88 skos:exactMatch OMIM:618959 semapv:UnspecifiedMatching +obo:GARD_16399 Optic atrophy 12 skos:broadMatch Orphanet:98673 semapv:UnspecifiedMatching +obo:GARD_16399 Optic atrophy 12 skos:exactMatch OMIM:618977 semapv:UnspecifiedMatching +obo:GARD_16400 Immune dysregulation and systemic hyperinflammation syndrome skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +obo:GARD_16400 Immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch OMIM:618998 semapv:UnspecifiedMatching +obo:GARD_16401 Mitochondrial complex i deficiency, nuclear type 35 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16401 Mitochondrial complex i deficiency, nuclear type 35 skos:exactMatch OMIM:619003 semapv:UnspecifiedMatching +obo:GARD_16402 Ifap syndrome 2 skos:broadMatch Orphanet:2273 semapv:UnspecifiedMatching +obo:GARD_16402 Ifap syndrome 2 skos:exactMatch OMIM:619016 semapv:UnspecifiedMatching +obo:GARD_16403 Coenzyme q10 deficiency, primary, 9 skos:broadMatch Orphanet:139485 semapv:UnspecifiedMatching +obo:GARD_16403 Coenzyme q10 deficiency, primary, 9 skos:exactMatch OMIM:619028 semapv:UnspecifiedMatching +obo:GARD_16404 Mitochondrial complex iv deficiency, nuclear type 3 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16404 Mitochondrial complex iv deficiency, nuclear type 3 skos:exactMatch OMIM:619046 semapv:UnspecifiedMatching +obo:GARD_16405 Mitochondrial complex iv deficiency, nuclear type 4 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16405 Mitochondrial complex iv deficiency, nuclear type 4 skos:exactMatch OMIM:619048 semapv:UnspecifiedMatching +obo:GARD_16406 Mitochondrial complex iv deficiency, nuclear type 7 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16406 Mitochondrial complex iv deficiency, nuclear type 7 skos:exactMatch OMIM:619051 semapv:UnspecifiedMatching +obo:GARD_16407 Mitochondrial complex iv deficiency, nuclear type 8 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16407 Mitochondrial complex iv deficiency, nuclear type 8 skos:exactMatch OMIM:619052 semapv:UnspecifiedMatching +obo:GARD_16408 Mitochondrial complex iv deficiency, nuclear type 10 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16408 Mitochondrial complex iv deficiency, nuclear type 10 skos:exactMatch OMIM:619053 semapv:UnspecifiedMatching +obo:GARD_16409 Mitochondrial complex iv deficiency, nuclear type 11 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16409 Mitochondrial complex iv deficiency, nuclear type 11 skos:exactMatch OMIM:619054 semapv:UnspecifiedMatching +obo:GARD_1641 Autosomal recessive cutis laxa type 2B skos:exactMatch Orphanet:357064 semapv:UnspecifiedMatching +obo:GARD_1641 Autosomal recessive cutis laxa type 2B skos:narrowMatch OMIM:612940 semapv:UnspecifiedMatching +obo:GARD_16410 Mitochondrial complex iv deficiency, nuclear type 12 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16410 Mitochondrial complex iv deficiency, nuclear type 12 skos:exactMatch OMIM:619055 semapv:UnspecifiedMatching +obo:GARD_16411 Mitochondrial complex iv deficiency, nuclear type 14 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16411 Mitochondrial complex iv deficiency, nuclear type 14 skos:exactMatch OMIM:619058 semapv:UnspecifiedMatching +obo:GARD_16412 Mitochondrial complex iv deficiency, nuclear type 15 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16412 Mitochondrial complex iv deficiency, nuclear type 15 skos:exactMatch OMIM:619059 semapv:UnspecifiedMatching +obo:GARD_16413 Mitochondrial complex iv deficiency, nuclear type 16 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16413 Mitochondrial complex iv deficiency, nuclear type 16 skos:exactMatch OMIM:619060 semapv:UnspecifiedMatching +obo:GARD_16414 Mitochondrial complex iv deficiency, nuclear type 17 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16414 Mitochondrial complex iv deficiency, nuclear type 17 skos:exactMatch OMIM:619061 semapv:UnspecifiedMatching +obo:GARD_16415 Mitochondrial complex iv deficiency, nuclear type 18 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16415 Mitochondrial complex iv deficiency, nuclear type 18 skos:exactMatch OMIM:619062 semapv:UnspecifiedMatching +obo:GARD_16416 Mitochondrial complex iv deficiency, nuclear type 19 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16416 Mitochondrial complex iv deficiency, nuclear type 19 skos:exactMatch OMIM:619063 semapv:UnspecifiedMatching +obo:GARD_16417 Mitochondrial complex iv deficiency, nuclear type 20 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16417 Mitochondrial complex iv deficiency, nuclear type 20 skos:exactMatch OMIM:619064 semapv:UnspecifiedMatching +obo:GARD_16418 Mitochondrial complex iv deficiency, nuclear type 21 skos:broadMatch Orphanet:70472 semapv:UnspecifiedMatching +obo:GARD_16418 Mitochondrial complex iv deficiency, nuclear type 21 skos:exactMatch OMIM:619065 semapv:UnspecifiedMatching +obo:GARD_16419 Noonan syndrome 13 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_16419 Noonan syndrome 13 skos:exactMatch OMIM:619087 semapv:UnspecifiedMatching +obo:GARD_16420 Spermatogenic failure 48 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16420 Spermatogenic failure 48 skos:exactMatch OMIM:619108 semapv:UnspecifiedMatching +obo:GARD_16421 Arthrogryposis, distal, type 1c skos:broadMatch Orphanet:1146 semapv:UnspecifiedMatching +obo:GARD_16421 Arthrogryposis, distal, type 1c skos:exactMatch OMIM:619110 semapv:UnspecifiedMatching +obo:GARD_16422 Coach syndrome 2 skos:broadMatch Orphanet:1454 semapv:UnspecifiedMatching +obo:GARD_16422 Coach syndrome 2 skos:exactMatch OMIM:619111 semapv:UnspecifiedMatching +obo:GARD_16423 Coach syndrome 3 skos:broadMatch Orphanet:1454 semapv:UnspecifiedMatching +obo:GARD_16423 Coach syndrome 3 skos:exactMatch OMIM:619113 semapv:UnspecifiedMatching +obo:GARD_16424 Developmental and epileptic encephalopathy 89 skos:broadMatch Orphanet:442835 semapv:UnspecifiedMatching +obo:GARD_16424 Developmental and epileptic encephalopathy 89 skos:exactMatch OMIM:619124 semapv:UnspecifiedMatching +obo:GARD_16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_16425 Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch OMIM:619133 semapv:UnspecifiedMatching +obo:GARD_16426 Ritscher-schinzel syndrome 3 skos:broadMatch Orphanet:7 semapv:UnspecifiedMatching +obo:GARD_16426 Ritscher-schinzel syndrome 3 skos:exactMatch OMIM:619135 semapv:UnspecifiedMatching +obo:GARD_16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_16427 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:exactMatch OMIM:619141 semapv:UnspecifiedMatching +obo:GARD_16428 Nephrotic syndrome, type 22 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16428 Nephrotic syndrome, type 22 skos:exactMatch OMIM:619155 semapv:UnspecifiedMatching +obo:GARD_16429 Mitochondrial complex ii deficiency, nuclear type 2 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +obo:GARD_16429 Mitochondrial complex ii deficiency, nuclear type 2 skos:exactMatch OMIM:619166 semapv:UnspecifiedMatching +obo:GARD_1643 Primary cutis verticis gyrata skos:exactMatch Orphanet:671 semapv:UnspecifiedMatching +obo:GARD_16430 Mitochondrial complex ii deficiency, nuclear type 3 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +obo:GARD_16430 Mitochondrial complex ii deficiency, nuclear type 3 skos:exactMatch OMIM:619167 semapv:UnspecifiedMatching +obo:GARD_16431 Mitochondrial complex i deficiency, nuclear type 36 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16431 Mitochondrial complex i deficiency, nuclear type 36 skos:exactMatch OMIM:619170 semapv:UnspecifiedMatching +obo:GARD_16432 Microcephaly 26, primary, autosomal dominant skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +obo:GARD_16432 Microcephaly 26, primary, autosomal dominant skos:exactMatch OMIM:619179 semapv:UnspecifiedMatching +obo:GARD_16433 Microcephaly 27, primary, autosomal dominant skos:broadMatch Orphanet:2514 semapv:UnspecifiedMatching +obo:GARD_16433 Microcephaly 27, primary, autosomal dominant skos:exactMatch OMIM:619180 semapv:UnspecifiedMatching +obo:GARD_16434 Joubert syndrome 37 skos:broadMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_16434 Joubert syndrome 37 skos:exactMatch OMIM:619185 semapv:UnspecifiedMatching +obo:GARD_16435 Nephrotic syndrome, type 23 skos:broadMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_16435 Nephrotic syndrome, type 23 skos:exactMatch OMIM:619201 semapv:UnspecifiedMatching +obo:GARD_16436 Spermatogenic failure 52 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_16436 Spermatogenic failure 52 skos:exactMatch OMIM:619202 semapv:UnspecifiedMatching +obo:GARD_16437 Olmsted syndrome 2 skos:broadMatch Orphanet:659 semapv:UnspecifiedMatching +obo:GARD_16437 Olmsted syndrome 2 skos:exactMatch OMIM:619208 semapv:UnspecifiedMatching +obo:GARD_16438 Mitochondrial complex ii deficiency, nuclear type 4 skos:broadMatch Orphanet:3208 semapv:UnspecifiedMatching +obo:GARD_16438 Mitochondrial complex ii deficiency, nuclear type 4 skos:exactMatch OMIM:619224 semapv:UnspecifiedMatching +obo:GARD_16439 Glanzmann thrombasthenia 2 skos:broadMatch Orphanet:849 semapv:UnspecifiedMatching +obo:GARD_16439 Glanzmann thrombasthenia 2 skos:exactMatch OMIM:619267 semapv:UnspecifiedMatching +obo:GARD_16440 Mitochondrial complex i deficiency, nuclear type 37 skos:broadMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_16440 Mitochondrial complex i deficiency, nuclear type 37 skos:exactMatch OMIM:619272 semapv:UnspecifiedMatching +obo:GARD_16441 Pontocerebellar hypoplasia, type 1e skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_16441 Pontocerebellar hypoplasia, type 1e skos:exactMatch OMIM:619303 semapv:UnspecifiedMatching +obo:GARD_16442 Pontocerebellar hypoplasia, type 1f skos:broadMatch Orphanet:2254 semapv:UnspecifiedMatching +obo:GARD_16442 Pontocerebellar hypoplasia, type 1f skos:exactMatch OMIM:619304 semapv:UnspecifiedMatching +obo:GARD_16443 Coffin-siris syndrome 12 skos:broadMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_16443 Coffin-siris syndrome 12 skos:exactMatch OMIM:619325 semapv:UnspecifiedMatching +obo:GARD_16444 Bartsocas-papas syndrome 2 skos:broadMatch Orphanet:1234 semapv:UnspecifiedMatching +obo:GARD_16444 Bartsocas-papas syndrome 2 skos:exactMatch OMIM:619339 semapv:UnspecifiedMatching +obo:GARD_16445 Developmental and epileptic encephalopathy 96 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_16445 Developmental and epileptic encephalopathy 96 skos:exactMatch OMIM:619340 semapv:UnspecifiedMatching +obo:GARD_16446 Visceral myopathy 2 skos:broadMatch Orphanet:2604 semapv:UnspecifiedMatching +obo:GARD_16446 Visceral myopathy 2 skos:exactMatch OMIM:619350 semapv:UnspecifiedMatching +obo:GARD_16447 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:broadMatch Orphanet:2241 semapv:UnspecifiedMatching +obo:GARD_16447 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:exactMatch OMIM:619351 semapv:UnspecifiedMatching +obo:GARD_16448 Mitochondrial complex iv deficiency, nuclear type 22 skos:broadMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_16448 Mitochondrial complex iv deficiency, nuclear type 22 skos:exactMatch OMIM:619355 semapv:UnspecifiedMatching +obo:GARD_16449 Cone dystrophy 4 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +obo:GARD_16449 Cone dystrophy 4 skos:exactMatch OMIM:613093 semapv:UnspecifiedMatching +obo:GARD_16450 Cowden syndrome 1 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +obo:GARD_16450 Cowden syndrome 1 skos:exactMatch OMIM:158350 semapv:UnspecifiedMatching +obo:GARD_16451 Desbuquois dysplasia 1 skos:broadMatch Orphanet:1425 semapv:UnspecifiedMatching +obo:GARD_16451 Desbuquois dysplasia 1 skos:exactMatch OMIM:251450 semapv:UnspecifiedMatching +obo:GARD_16452 Xeroderma pigmentosum, complementation group d skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +obo:GARD_16452 Xeroderma pigmentosum, complementation group d skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_16452 Xeroderma pigmentosum, complementation group d skos:exactMatch OMIM:278730 semapv:UnspecifiedMatching +obo:GARD_16453 Lymphatic malformation 2 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +obo:GARD_16453 Lymphatic malformation 2 skos:exactMatch OMIM:611944 semapv:UnspecifiedMatching +obo:GARD_16454 Intellectual developmental disorder, autosomal dominant 3 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16454 Intellectual developmental disorder, autosomal dominant 3 skos:exactMatch OMIM:612580 semapv:UnspecifiedMatching +obo:GARD_16455 Intellectual developmental disorder, autosomal dominant 4 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16455 Intellectual developmental disorder, autosomal dominant 4 skos:exactMatch OMIM:612581 semapv:UnspecifiedMatching +obo:GARD_16456 Lymphatic malformation 3 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +obo:GARD_16456 Lymphatic malformation 3 skos:exactMatch OMIM:613480 semapv:UnspecifiedMatching +obo:GARD_16457 Ichthyosis, congenital, autosomal recessive 8 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_16457 Ichthyosis, congenital, autosomal recessive 8 skos:exactMatch OMIM:613943 semapv:UnspecifiedMatching +obo:GARD_16458 Intellectual developmental disorder, autosomal dominant 2 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16458 Intellectual developmental disorder, autosomal dominant 2 skos:exactMatch OMIM:614113 semapv:UnspecifiedMatching +obo:GARD_16459 Nescav syndrome skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16459 Nescav syndrome skos:exactMatch OMIM:614255 semapv:UnspecifiedMatching +obo:GARD_1646 Thyrocerebrorenal syndrome skos:exactMatch Orphanet:3327 semapv:UnspecifiedMatching +obo:GARD_1646 Thyrocerebrorenal syndrome skos:narrowMatch OMIM:274240 semapv:UnspecifiedMatching +obo:GARD_16460 Intellectual developmental disorder, autosomal dominant 10 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16460 Intellectual developmental disorder, autosomal dominant 10 skos:exactMatch OMIM:614256 semapv:UnspecifiedMatching +obo:GARD_16461 Chromosome 20q11-q12 deletion syndrome skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16461 Chromosome 20q11-q12 deletion syndrome skos:exactMatch OMIM:614257 semapv:UnspecifiedMatching +obo:GARD_16462 Intellectual developmental disorder, autosomal dominant 13 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16462 Intellectual developmental disorder, autosomal dominant 13 skos:exactMatch OMIM:614563 semapv:UnspecifiedMatching +obo:GARD_16463 Cowden syndrome 4 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +obo:GARD_16463 Cowden syndrome 4 skos:exactMatch OMIM:615107 semapv:UnspecifiedMatching +obo:GARD_16464 Cowden syndrome 5 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +obo:GARD_16464 Cowden syndrome 5 skos:exactMatch OMIM:615108 semapv:UnspecifiedMatching +obo:GARD_16465 Cowden syndrome 6 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +obo:GARD_16465 Cowden syndrome 6 skos:exactMatch OMIM:615109 semapv:UnspecifiedMatching +obo:GARD_16466 Desbuquois dysplasia 2 skos:broadMatch Orphanet:1425 semapv:UnspecifiedMatching +obo:GARD_16466 Desbuquois dysplasia 2 skos:exactMatch OMIM:615777 semapv:UnspecifiedMatching +obo:GARD_16467 Vulto-van silfhout-de vries syndrome skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16467 Vulto-van silfhout-de vries syndrome skos:exactMatch OMIM:615828 semapv:UnspecifiedMatching +obo:GARD_16468 Lymphatic malformation 4 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +obo:GARD_16468 Lymphatic malformation 4 skos:exactMatch OMIM:615907 semapv:UnspecifiedMatching +obo:GARD_16469 Intellectual developmental disorder, autosomal dominant 38 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16469 Intellectual developmental disorder, autosomal dominant 38 skos:exactMatch OMIM:616393 semapv:UnspecifiedMatching +obo:GARD_16470 Cowden syndrome 7 skos:broadMatch Orphanet:201 semapv:UnspecifiedMatching +obo:GARD_16470 Cowden syndrome 7 skos:exactMatch OMIM:616858 semapv:UnspecifiedMatching +obo:GARD_16471 Ichthyosis, congenital, autosomal recessive 14 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_16471 Ichthyosis, congenital, autosomal recessive 14 skos:exactMatch OMIM:617571 semapv:UnspecifiedMatching +obo:GARD_16472 Intellectual developmental disorder, autosomal dominant 52 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16472 Intellectual developmental disorder, autosomal dominant 52 skos:exactMatch OMIM:617796 semapv:UnspecifiedMatching +obo:GARD_16473 Intellectual developmental disorder, autosomal dominant 53 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16473 Intellectual developmental disorder, autosomal dominant 53 skos:exactMatch OMIM:617798 semapv:UnspecifiedMatching +obo:GARD_16474 Intellectual developmental disorder, autosomal dominant 54 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16474 Intellectual developmental disorder, autosomal dominant 54 skos:exactMatch OMIM:617799 semapv:UnspecifiedMatching +obo:GARD_16475 Intellectual developmental disorder, autosomal recessive 63 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16475 Intellectual developmental disorder, autosomal recessive 63 skos:exactMatch OMIM:618095 semapv:UnspecifiedMatching +obo:GARD_16476 Intellectual developmental disorder, autosomal dominant 58 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16476 Intellectual developmental disorder, autosomal dominant 58 skos:exactMatch OMIM:618106 semapv:UnspecifiedMatching +obo:GARD_16477 Global developmental delay with or without impaired intellectual development skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16477 Global developmental delay with or without impaired intellectual development skos:exactMatch OMIM:618330 semapv:UnspecifiedMatching +obo:GARD_16478 Intellectual developmental disorder, autosomal dominant 64 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_16478 Intellectual developmental disorder, autosomal dominant 64 skos:exactMatch OMIM:619188 semapv:UnspecifiedMatching +obo:GARD_16479 Mitochondrial DNA-related progressive external ophthalmoplegia skos:exactMatch Orphanet:663 semapv:UnspecifiedMatching +obo:GARD_16480 Sorsby pseudoinflammatory fundus dystrophy skos:exactMatch Orphanet:59181 semapv:UnspecifiedMatching +obo:GARD_16480 Sorsby pseudoinflammatory fundus dystrophy skos:narrowMatch OMIM:136900 semapv:UnspecifiedMatching +obo:GARD_16480 Sorsby pseudoinflammatory fundus dystrophy skos:narrowMatch OMIM:264420 semapv:UnspecifiedMatching +obo:GARD_16481 Methylmalonic aciduria due to transcobalamin receptor defect skos:exactMatch Orphanet:280183 semapv:UnspecifiedMatching +obo:GARD_16481 Methylmalonic aciduria due to transcobalamin receptor defect skos:narrowMatch OMIM:613646 semapv:UnspecifiedMatching +obo:GARD_16482 Rieger anomaly skos:exactMatch Orphanet:91483 semapv:UnspecifiedMatching +obo:GARD_16482 Rieger anomaly skos:narrowMatch OMIM:137600 semapv:UnspecifiedMatching +obo:GARD_16482 Rieger anomaly skos:narrowMatch OMIM:601631 semapv:UnspecifiedMatching +obo:GARD_16482 Rieger anomaly skos:narrowMatch OMIM:602482 semapv:UnspecifiedMatching +obo:GARD_16483 Infantile liver failure syndrome 3 skos:broadMatch Orphanet:464724 semapv:UnspecifiedMatching +obo:GARD_16483 Infantile liver failure syndrome 3 skos:exactMatch OMIM:618641 semapv:UnspecifiedMatching +obo:GARD_16484 Anterior segment developmental anomaly without extraocular manifestations skos:exactMatch Orphanet:98634 semapv:UnspecifiedMatching +obo:GARD_16485 Axenfeld anomaly skos:exactMatch Orphanet:98978 semapv:UnspecifiedMatching +obo:GARD_16485 Axenfeld anomaly skos:narrowMatch OMIM:601631 semapv:UnspecifiedMatching +obo:GARD_16485 Axenfeld anomaly skos:narrowMatch OMIM:602482 semapv:UnspecifiedMatching +obo:GARD_16486 Autosomal dominant progressive external ophthalmoplegia skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching +obo:GARD_16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:157640 semapv:UnspecifiedMatching +obo:GARD_16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:609283 semapv:UnspecifiedMatching +obo:GARD_16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:609286 semapv:UnspecifiedMatching +obo:GARD_16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:610131 semapv:UnspecifiedMatching +obo:GARD_16486 Autosomal dominant progressive external ophthalmoplegia skos:narrowMatch OMIM:613077 semapv:UnspecifiedMatching +obo:GARD_16487 C3 glomerulonephritis skos:exactMatch Orphanet:329931 semapv:UnspecifiedMatching +obo:GARD_16487 C3 glomerulonephritis skos:narrowMatch OMIM:614809 semapv:UnspecifiedMatching +obo:GARD_16489 Complement component 3 deficiency skos:exactMatch Orphanet:280133 semapv:UnspecifiedMatching +obo:GARD_16489 Complement component 3 deficiency skos:narrowMatch OMIM:613779 semapv:UnspecifiedMatching +obo:GARD_16490 Primary early-onset glaucoma skos:exactMatch Orphanet:156005 semapv:UnspecifiedMatching +obo:GARD_16491 Aortic aneurysm, familial abdominal, 1 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +obo:GARD_16491 Aortic aneurysm, familial abdominal, 1 skos:exactMatch OMIM:100070 semapv:UnspecifiedMatching +obo:GARD_16492 Aortic aneurysm, familial abdominal, 2 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +obo:GARD_16492 Aortic aneurysm, familial abdominal, 2 skos:exactMatch OMIM:609782 semapv:UnspecifiedMatching +obo:GARD_16493 Aortic aneurysm, familial abdominal, 3 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +obo:GARD_16493 Aortic aneurysm, familial abdominal, 3 skos:exactMatch OMIM:611891 semapv:UnspecifiedMatching +obo:GARD_16494 Aortic aneurysm, familial abdominal, 4 skos:broadMatch Orphanet:86 semapv:UnspecifiedMatching +obo:GARD_16494 Aortic aneurysm, familial abdominal, 4 skos:exactMatch OMIM:614375 semapv:UnspecifiedMatching +obo:GARD_16495 Fetal akinesia deformation sequence 2 skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +obo:GARD_16495 Fetal akinesia deformation sequence 2 skos:exactMatch OMIM:618388 semapv:UnspecifiedMatching +obo:GARD_16496 Fetal akinesia deformation sequence 3 skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +obo:GARD_16496 Fetal akinesia deformation sequence 3 skos:exactMatch OMIM:618389 semapv:UnspecifiedMatching +obo:GARD_16497 Fetal akinesia deformation sequence 4 skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +obo:GARD_16497 Fetal akinesia deformation sequence 4 skos:exactMatch OMIM:618393 semapv:UnspecifiedMatching +obo:GARD_16498 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +obo:GARD_16498 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 skos:exactMatch OMIM:609283 semapv:UnspecifiedMatching +obo:GARD_16499 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +obo:GARD_16499 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 skos:exactMatch OMIM:609286 semapv:UnspecifiedMatching +obo:GARD_16500 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +obo:GARD_16500 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 skos:exactMatch OMIM:610131 semapv:UnspecifiedMatching +obo:GARD_16501 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 skos:broadMatch Orphanet:254892 semapv:UnspecifiedMatching +obo:GARD_16501 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 skos:exactMatch OMIM:613077 semapv:UnspecifiedMatching +obo:GARD_16502 Otofaciocervical syndrome 1 skos:broadMatch Orphanet:2792 semapv:UnspecifiedMatching +obo:GARD_16502 Otofaciocervical syndrome 1 skos:exactMatch OMIM:166780 semapv:UnspecifiedMatching +obo:GARD_16503 Otofaciocervical syndrome 2, with t-cell deficiency skos:broadMatch Orphanet:2792 semapv:UnspecifiedMatching +obo:GARD_16503 Otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch OMIM:615560 semapv:UnspecifiedMatching +obo:GARD_16504 Seizures, benign familial infantile, 2 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +obo:GARD_16504 Seizures, benign familial infantile, 2 skos:exactMatch OMIM:605751 semapv:UnspecifiedMatching +obo:GARD_16505 Seizures, benign familial infantile, 4 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +obo:GARD_16505 Seizures, benign familial infantile, 4 skos:exactMatch OMIM:612627 semapv:UnspecifiedMatching +obo:GARD_16506 Seizures, benign familial infantile, 5 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +obo:GARD_16506 Seizures, benign familial infantile, 5 skos:exactMatch OMIM:617080 semapv:UnspecifiedMatching +obo:GARD_16507 Alzheimer disease 5 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16507 Alzheimer disease 5 skos:exactMatch OMIM:602096 semapv:UnspecifiedMatching +obo:GARD_16508 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16508 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:exactMatch OMIM:605055 semapv:UnspecifiedMatching +obo:GARD_16509 Alzheimer disease 6 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16509 Alzheimer disease 6 skos:exactMatch OMIM:605526 semapv:UnspecifiedMatching +obo:GARD_16510 Alzheimer disease 7 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16510 Alzheimer disease 7 skos:exactMatch OMIM:606187 semapv:UnspecifiedMatching +obo:GARD_16511 Alzheimer disease 4 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16511 Alzheimer disease 4 skos:exactMatch OMIM:606889 semapv:UnspecifiedMatching +obo:GARD_16512 Alzheimer disease 8 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16512 Alzheimer disease 8 skos:exactMatch OMIM:607116 semapv:UnspecifiedMatching +obo:GARD_16513 Alzheimer disease 3 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16513 Alzheimer disease 3 skos:exactMatch OMIM:607822 semapv:UnspecifiedMatching +obo:GARD_16514 Alzheimer disease 10 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16514 Alzheimer disease 10 skos:exactMatch OMIM:609636 semapv:UnspecifiedMatching +obo:GARD_16515 Alzheimer disease 11 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16515 Alzheimer disease 11 skos:exactMatch OMIM:609790 semapv:UnspecifiedMatching +obo:GARD_16516 Alzheimer disease 12 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16516 Alzheimer disease 12 skos:exactMatch OMIM:611073 semapv:UnspecifiedMatching +obo:GARD_16517 Alzheimer disease 13 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16517 Alzheimer disease 13 skos:exactMatch OMIM:611152 semapv:UnspecifiedMatching +obo:GARD_16518 Alzheimer disease 14 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_16518 Alzheimer disease 14 skos:exactMatch OMIM:611154 semapv:UnspecifiedMatching +obo:GARD_16519 Septooptic dysplasia skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +obo:GARD_16519 Septooptic dysplasia skos:exactMatch OMIM:182230 semapv:UnspecifiedMatching +obo:GARD_16520 Pituitary hormone deficiency, combined, 6 skos:broadMatch Orphanet:95494 semapv:UnspecifiedMatching +obo:GARD_16520 Pituitary hormone deficiency, combined, 6 skos:exactMatch OMIM:613986 semapv:UnspecifiedMatching +obo:GARD_16521 Seizures, benign familial infantile, 3 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +obo:GARD_16521 Seizures, benign familial infantile, 3 skos:exactMatch OMIM:607745 semapv:UnspecifiedMatching +obo:GARD_16522 Citrullinemia skos:exactMatch Orphanet:187 semapv:UnspecifiedMatching +obo:GARD_16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching +obo:GARD_16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232200 semapv:UnspecifiedMatching +obo:GARD_16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232220 semapv:UnspecifiedMatching +obo:GARD_16523 Glycogen storage disease due to glucose-6-phosphatase deficiency skos:narrowMatch OMIM:232240 semapv:UnspecifiedMatching +obo:GARD_16524 Focal facial dermal dysplasia type I skos:exactMatch Orphanet:79133 semapv:UnspecifiedMatching +obo:GARD_16524 Focal facial dermal dysplasia type I skos:narrowMatch OMIM:136500 semapv:UnspecifiedMatching +obo:GARD_16526 Crigler-Najjar syndrome skos:exactMatch Orphanet:205 semapv:UnspecifiedMatching +obo:GARD_16526 Crigler-Najjar syndrome skos:narrowMatch OMIM:218800 semapv:UnspecifiedMatching +obo:GARD_16526 Crigler-Najjar syndrome skos:narrowMatch OMIM:606785 semapv:UnspecifiedMatching +obo:GARD_16527 Ependymal tumor skos:exactMatch Orphanet:301 semapv:UnspecifiedMatching +obo:GARD_16527 Ependymal tumor skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +obo:GARD_16528 Erythrokeratodermia variabilis skos:exactMatch Orphanet:317 semapv:UnspecifiedMatching +obo:GARD_16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:133200 semapv:UnspecifiedMatching +obo:GARD_16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617524 semapv:UnspecifiedMatching +obo:GARD_16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617525 semapv:UnspecifiedMatching +obo:GARD_16528 Erythrokeratodermia variabilis skos:narrowMatch OMIM:617526 semapv:UnspecifiedMatching +obo:GARD_16529 Classic Hodgkin lymphoma skos:exactMatch Orphanet:391 semapv:UnspecifiedMatching +obo:GARD_16529 Classic Hodgkin lymphoma skos:narrowMatch OMIM:236000 semapv:UnspecifiedMatching +obo:GARD_16529 Classic Hodgkin lymphoma skos:narrowMatch OMIM:300221 semapv:UnspecifiedMatching +obo:GARD_16529 Classic Hodgkin lymphoma skos:narrowMatch OMIM:400021 semapv:UnspecifiedMatching +obo:GARD_16530 Primary hyperoxaluria skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching +obo:GARD_16530 Primary hyperoxaluria skos:narrowMatch OMIM:259900 semapv:UnspecifiedMatching +obo:GARD_16530 Primary hyperoxaluria skos:narrowMatch OMIM:260000 semapv:UnspecifiedMatching +obo:GARD_16530 Primary hyperoxaluria skos:narrowMatch OMIM:613616 semapv:UnspecifiedMatching +obo:GARD_16531 Idiopathic/heritable pulmonary arterial hypertension skos:exactMatch Orphanet:422 semapv:UnspecifiedMatching +obo:GARD_16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:178600 semapv:UnspecifiedMatching +obo:GARD_16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:265400 semapv:UnspecifiedMatching +obo:GARD_16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615342 semapv:UnspecifiedMatching +obo:GARD_16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615343 semapv:UnspecifiedMatching +obo:GARD_16531 Idiopathic/heritable pulmonary arterial hypertension skos:narrowMatch OMIM:615344 semapv:UnspecifiedMatching +obo:GARD_16532 Familial hypoaldosteronism skos:exactMatch Orphanet:427 semapv:UnspecifiedMatching +obo:GARD_16532 Familial hypoaldosteronism skos:narrowMatch OMIM:203400 semapv:UnspecifiedMatching +obo:GARD_16532 Familial hypoaldosteronism skos:narrowMatch OMIM:606984 semapv:UnspecifiedMatching +obo:GARD_16532 Familial hypoaldosteronism skos:narrowMatch OMIM:610600 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:146110 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:147950 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:244200 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:308700 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:610628 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:612370 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:612702 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614837 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614838 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614839 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614840 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614841 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614842 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614858 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:614880 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:615266 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:615269 semapv:UnspecifiedMatching +obo:GARD_16533 Normosmic congenital hypogonadotropic hypogonadism skos:narrowMatch OMIM:615270 semapv:UnspecifiedMatching +obo:GARD_16534 Non-syndromic anorectal malformation skos:exactMatch Orphanet:557 semapv:UnspecifiedMatching +obo:GARD_16534 Non-syndromic anorectal malformation skos:narrowMatch OMIM:107100 semapv:UnspecifiedMatching +obo:GARD_16534 Non-syndromic anorectal malformation skos:narrowMatch OMIM:207500 semapv:UnspecifiedMatching +obo:GARD_16534 Non-syndromic anorectal malformation skos:narrowMatch OMIM:301800 semapv:UnspecifiedMatching +obo:GARD_16535 Marfan syndrome skos:exactMatch Orphanet:558 semapv:UnspecifiedMatching +obo:GARD_16535 Marfan syndrome skos:narrowMatch OMIM:154700 semapv:UnspecifiedMatching +obo:GARD_16535 Marfan syndrome skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +obo:GARD_16536 Multiminicore myopathy skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +obo:GARD_16536 Multiminicore myopathy skos:narrowMatch OMIM:117000 semapv:UnspecifiedMatching +obo:GARD_16536 Multiminicore myopathy skos:narrowMatch OMIM:255320 semapv:UnspecifiedMatching +obo:GARD_16536 Multiminicore myopathy skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +obo:GARD_16537 Homocystinuria without methylmalonic aciduria skos:exactMatch Orphanet:622 semapv:UnspecifiedMatching +obo:GARD_16537 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:236270 semapv:UnspecifiedMatching +obo:GARD_16537 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:250940 semapv:UnspecifiedMatching +obo:GARD_16537 Homocystinuria without methylmalonic aciduria skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +obo:GARD_16538 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:exactMatch Orphanet:632 semapv:UnspecifiedMatching +obo:GARD_16538 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:narrowMatch OMIM:307200 semapv:UnspecifiedMatching +obo:GARD_16539 LCAT deficiency skos:exactMatch Orphanet:650 semapv:UnspecifiedMatching +obo:GARD_16539 LCAT deficiency skos:narrowMatch OMIM:136120 semapv:UnspecifiedMatching +obo:GARD_16539 LCAT deficiency skos:narrowMatch OMIM:245900 semapv:UnspecifiedMatching +obo:GARD_1654 Familial aortic dissection skos:exactMatch Orphanet:229 semapv:UnspecifiedMatching +obo:GARD_1654 Familial aortic dissection skos:narrowMatch OMIM:607086 semapv:UnspecifiedMatching +obo:GARD_16540 Omphalocele skos:exactMatch Orphanet:660 semapv:UnspecifiedMatching +obo:GARD_16540 Omphalocele skos:narrowMatch OMIM:164750 semapv:UnspecifiedMatching +obo:GARD_16540 Omphalocele skos:narrowMatch OMIM:310980 semapv:UnspecifiedMatching +obo:GARD_16541 Hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching +obo:GARD_16541 Hemolytic anemia due to glucophosphate isomerase deficiency skos:narrowMatch OMIM:613470 semapv:UnspecifiedMatching +obo:GARD_16542 Porokeratosis plantaris palmaris et disseminata skos:exactMatch Orphanet:737 semapv:UnspecifiedMatching +obo:GARD_16542 Porokeratosis plantaris palmaris et disseminata skos:narrowMatch OMIM:175850 semapv:UnspecifiedMatching +obo:GARD_16543 Severe hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch Orphanet:743 semapv:UnspecifiedMatching +obo:GARD_16543 Severe hereditary thrombophilia due to congenital protein S deficiency skos:narrowMatch OMIM:612336 semapv:UnspecifiedMatching +obo:GARD_16543 Severe hereditary thrombophilia due to congenital protein S deficiency skos:narrowMatch OMIM:614514 semapv:UnspecifiedMatching +obo:GARD_16544 Severe hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch Orphanet:745 semapv:UnspecifiedMatching +obo:GARD_16544 Severe hereditary thrombophilia due to congenital protein C deficiency skos:narrowMatch OMIM:176860 semapv:UnspecifiedMatching +obo:GARD_16544 Severe hereditary thrombophilia due to congenital protein C deficiency skos:narrowMatch OMIM:612304 semapv:UnspecifiedMatching +obo:GARD_16545 Pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:756 semapv:UnspecifiedMatching +obo:GARD_16545 Pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:177735 semapv:UnspecifiedMatching +obo:GARD_16545 Pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:264350 semapv:UnspecifiedMatching +obo:GARD_16546 Central precocious puberty skos:exactMatch Orphanet:759 semapv:UnspecifiedMatching +obo:GARD_16546 Central precocious puberty skos:narrowMatch OMIM:176400 semapv:UnspecifiedMatching +obo:GARD_16546 Central precocious puberty skos:narrowMatch OMIM:615346 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:192500 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:220400 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:600919 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:601005 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:603830 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:611818 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:611819 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:611820 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:612347 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:612955 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:613485 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:613688 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:613693 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:613695 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:616247 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:616249 semapv:UnspecifiedMatching +obo:GARD_16547 Familial long QT syndrome skos:narrowMatch OMIM:618447 semapv:UnspecifiedMatching +obo:GARD_16548 Estrogen resistance syndrome skos:exactMatch Orphanet:785 semapv:UnspecifiedMatching +obo:GARD_16548 Estrogen resistance syndrome skos:narrowMatch OMIM:615363 semapv:UnspecifiedMatching +obo:GARD_16549 Encephalopathy due to sulfite oxidase deficiency skos:exactMatch Orphanet:833 semapv:UnspecifiedMatching +obo:GARD_16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:252150 semapv:UnspecifiedMatching +obo:GARD_16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:252160 semapv:UnspecifiedMatching +obo:GARD_16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:272300 semapv:UnspecifiedMatching +obo:GARD_16549 Encephalopathy due to sulfite oxidase deficiency skos:narrowMatch OMIM:615501 semapv:UnspecifiedMatching +obo:GARD_16550 Lown-Ganong-Levine syndrome skos:exactMatch Orphanet:844 semapv:UnspecifiedMatching +obo:GARD_16550 Lown-Ganong-Levine syndrome skos:narrowMatch OMIM:108950 semapv:UnspecifiedMatching +obo:GARD_16551 Acro-renal-ocular syndrome skos:exactMatch Orphanet:959 semapv:UnspecifiedMatching +obo:GARD_16551 Acro-renal-ocular syndrome skos:narrowMatch OMIM:607323 semapv:UnspecifiedMatching +obo:GARD_16552 Testicular regression syndrome skos:exactMatch Orphanet:983 semapv:UnspecifiedMatching +obo:GARD_16552 Testicular regression syndrome skos:narrowMatch OMIM:273250 semapv:UnspecifiedMatching +obo:GARD_16553 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:1014 semapv:UnspecifiedMatching +obo:GARD_16553 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:narrowMatch OMIM:601217 semapv:UnspecifiedMatching +obo:GARD_16554 Autosomal recessive amelia skos:exactMatch Orphanet:1027 semapv:UnspecifiedMatching +obo:GARD_16554 Autosomal recessive amelia skos:narrowMatch OMIM:601360 semapv:UnspecifiedMatching +obo:GARD_16555 Microlissencephaly skos:exactMatch Orphanet:1083 semapv:UnspecifiedMatching +obo:GARD_16555 Microlissencephaly skos:narrowMatch OMIM:614019 semapv:UnspecifiedMatching +obo:GARD_16555 Microlissencephaly skos:narrowMatch OMIM:616212 semapv:UnspecifiedMatching +obo:GARD_16556 Sheldon-Hall syndrome skos:exactMatch Orphanet:1147 semapv:UnspecifiedMatching +obo:GARD_16556 Sheldon-Hall syndrome skos:narrowMatch OMIM:601680 semapv:UnspecifiedMatching +obo:GARD_16556 Sheldon-Hall syndrome skos:narrowMatch OMIM:616266 semapv:UnspecifiedMatching +obo:GARD_16556 Sheldon-Hall syndrome skos:narrowMatch OMIM:618435 semapv:UnspecifiedMatching +obo:GARD_16557 Congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch Orphanet:1166 semapv:UnspecifiedMatching +obo:GARD_16557 Congenital unilateral hypoplasia of depressor anguli oris skos:narrowMatch OMIM:125520 semapv:UnspecifiedMatching +obo:GARD_16558 X-linked progressive cerebellar ataxia skos:exactMatch Orphanet:1175 semapv:UnspecifiedMatching +obo:GARD_16558 X-linked progressive cerebellar ataxia skos:narrowMatch OMIM:302500 semapv:UnspecifiedMatching +obo:GARD_16559 Ataxia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:1178 semapv:UnspecifiedMatching +obo:GARD_16559 Ataxia-tapetoretinal degeneration syndrome skos:narrowMatch OMIM:272600 semapv:UnspecifiedMatching +obo:GARD_16560 Spastic ataxia with congenital miosis skos:exactMatch Orphanet:1182 semapv:UnspecifiedMatching +obo:GARD_16560 Spastic ataxia with congenital miosis skos:narrowMatch OMIM:108650 semapv:UnspecifiedMatching +obo:GARD_16561 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:exactMatch Orphanet:1194 semapv:UnspecifiedMatching +obo:GARD_16561 TMEM70-related mitochondrial encephalo-cardio-myopathy skos:narrowMatch OMIM:614052 semapv:UnspecifiedMatching +obo:GARD_16562 Brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch Orphanet:1295 semapv:UnspecifiedMatching +obo:GARD_16562 Brachytelephalangy-dysmorphism-Kallmann syndrome skos:narrowMatch OMIM:113480 semapv:UnspecifiedMatching +obo:GARD_16563 Hyperkeratosis-hyperpigmentation syndrome skos:exactMatch Orphanet:1336 semapv:UnspecifiedMatching +obo:GARD_16563 Hyperkeratosis-hyperpigmentation syndrome skos:narrowMatch OMIM:144190 semapv:UnspecifiedMatching +obo:GARD_16564 Atrial standstill skos:exactMatch Orphanet:1344 semapv:UnspecifiedMatching +obo:GARD_16564 Atrial standstill skos:narrowMatch OMIM:108770 semapv:UnspecifiedMatching +obo:GARD_16564 Atrial standstill skos:narrowMatch OMIM:615745 semapv:UnspecifiedMatching +obo:GARD_16565 Chondrodysplasia-disorder of sex development syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching +obo:GARD_16565 Chondrodysplasia-disorder of sex development syndrome skos:narrowMatch OMIM:600092 semapv:UnspecifiedMatching +obo:GARD_16566 Atrial septal defect-atrioventricular conduction defects syndrome skos:exactMatch Orphanet:1479 semapv:UnspecifiedMatching +obo:GARD_16566 Atrial septal defect-atrioventricular conduction defects syndrome skos:narrowMatch OMIM:108900 semapv:UnspecifiedMatching +obo:GARD_16567 Cooper-Jabs syndrome skos:exactMatch Orphanet:1488 semapv:UnspecifiedMatching +obo:GARD_16567 Cooper-Jabs syndrome skos:narrowMatch OMIM:209770 semapv:UnspecifiedMatching +obo:GARD_16568 Autosomal recessive Robinow syndrome skos:exactMatch Orphanet:1507 semapv:UnspecifiedMatching +obo:GARD_16568 Autosomal recessive Robinow syndrome skos:narrowMatch OMIM:268310 semapv:UnspecifiedMatching +obo:GARD_16568 Autosomal recessive Robinow syndrome skos:narrowMatch OMIM:618529 semapv:UnspecifiedMatching +obo:GARD_16569 Fatal infantile cytochrome C oxidase deficiency skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching +obo:GARD_16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:604377 semapv:UnspecifiedMatching +obo:GARD_16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:615119 semapv:UnspecifiedMatching +obo:GARD_16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:616500 semapv:UnspecifiedMatching +obo:GARD_16569 Fatal infantile cytochrome C oxidase deficiency skos:narrowMatch OMIM:616501 semapv:UnspecifiedMatching +obo:GARD_16570 Monosomy 13q14 skos:exactMatch Orphanet:1587 semapv:UnspecifiedMatching +obo:GARD_16570 Monosomy 13q14 skos:narrowMatch OMIM:613884 semapv:UnspecifiedMatching +obo:GARD_16571 Distal monosomy 13q skos:exactMatch Orphanet:1590 semapv:UnspecifiedMatching +obo:GARD_16571 Distal monosomy 13q skos:narrowMatch OMIM:602553 semapv:UnspecifiedMatching +obo:GARD_16572 Distal monosomy 15q skos:exactMatch Orphanet:1596 semapv:UnspecifiedMatching +obo:GARD_16572 Distal monosomy 15q skos:narrowMatch OMIM:612626 semapv:UnspecifiedMatching +obo:GARD_16573 3q13 microdeletion syndrome skos:exactMatch Orphanet:1621 semapv:UnspecifiedMatching +obo:GARD_16573 3q13 microdeletion syndrome skos:narrowMatch OMIM:615433 semapv:UnspecifiedMatching +obo:GARD_16574 Partial chromosome Y deletion skos:exactMatch Orphanet:1646 semapv:UnspecifiedMatching +obo:GARD_16574 Partial chromosome Y deletion skos:narrowMatch OMIM:400042 semapv:UnspecifiedMatching +obo:GARD_16574 Partial chromosome Y deletion skos:narrowMatch OMIM:415000 semapv:UnspecifiedMatching +obo:GARD_16575 Dentin dysplasia skos:exactMatch Orphanet:1653 semapv:UnspecifiedMatching +obo:GARD_16575 Dentin dysplasia skos:narrowMatch OMIM:125400 semapv:UnspecifiedMatching +obo:GARD_16575 Dentin dysplasia skos:narrowMatch OMIM:125420 semapv:UnspecifiedMatching +obo:GARD_16576 Chronic diarrhea with villous atrophy skos:exactMatch Orphanet:1670 semapv:UnspecifiedMatching +obo:GARD_16576 Chronic diarrhea with villous atrophy skos:narrowMatch OMIM:520100 semapv:UnspecifiedMatching +obo:GARD_16576 Chronic diarrhea with villous atrophy skos:narrowMatch OMIM:618662 semapv:UnspecifiedMatching +obo:GARD_16577 Arterial dissection-lentiginosis syndrome skos:exactMatch Orphanet:1682 semapv:UnspecifiedMatching +obo:GARD_16577 Arterial dissection-lentiginosis syndrome skos:narrowMatch OMIM:600459 semapv:UnspecifiedMatching +obo:GARD_16578 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch Orphanet:1812 semapv:UnspecifiedMatching +obo:GARD_16578 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:narrowMatch OMIM:225040 semapv:UnspecifiedMatching +obo:GARD_16579 Renal agenesis, bilateral skos:exactMatch Orphanet:1848 semapv:UnspecifiedMatching +obo:GARD_16579 Renal agenesis, bilateral skos:narrowMatch OMIM:191830 semapv:UnspecifiedMatching +obo:GARD_16579 Renal agenesis, bilateral skos:narrowMatch OMIM:617805 semapv:UnspecifiedMatching +obo:GARD_16580 Diabetic embryopathy skos:exactMatch Orphanet:1926 semapv:UnspecifiedMatching +obo:GARD_16580 Diabetic embryopathy skos:narrowMatch OMIM:601759 semapv:UnspecifiedMatching +obo:GARD_16581 Early myoclonic encephalopathy skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +obo:GARD_16581 Early myoclonic encephalopathy skos:narrowMatch OMIM:609304 semapv:UnspecifiedMatching +obo:GARD_16581 Early myoclonic encephalopathy skos:narrowMatch OMIM:616341 semapv:UnspecifiedMatching +obo:GARD_16581 Early myoclonic encephalopathy skos:narrowMatch OMIM:617105 semapv:UnspecifiedMatching +obo:GARD_16582 Hereditary gingival fibromatosis skos:exactMatch Orphanet:2024 semapv:UnspecifiedMatching +obo:GARD_16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:135300 semapv:UnspecifiedMatching +obo:GARD_16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:605544 semapv:UnspecifiedMatching +obo:GARD_16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:609955 semapv:UnspecifiedMatching +obo:GARD_16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:611010 semapv:UnspecifiedMatching +obo:GARD_16582 Hereditary gingival fibromatosis skos:narrowMatch OMIM:617626 semapv:UnspecifiedMatching +obo:GARD_16583 Juvenile hyaline fibromatosis skos:exactMatch Orphanet:2028 semapv:UnspecifiedMatching +obo:GARD_16583 Juvenile hyaline fibromatosis skos:narrowMatch OMIM:228600 semapv:UnspecifiedMatching +obo:GARD_16584 X-linked intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching +obo:GARD_16584 X-linked intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:300088 semapv:UnspecifiedMatching +obo:GARD_16584 X-linked intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:300423 semapv:UnspecifiedMatching +obo:GARD_16584 X-linked intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:300607 semapv:UnspecifiedMatching +obo:GARD_16585 46,XX ovotesticular disorder of sex development skos:exactMatch Orphanet:2138 semapv:UnspecifiedMatching +obo:GARD_16585 46,XX ovotesticular disorder of sex development skos:narrowMatch OMIM:400045 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:300049 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:608097 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:608098 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:612881 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:615544 semapv:UnspecifiedMatching +obo:GARD_16586 Nodular neuronal heterotopia skos:narrowMatch OMIM:617201 semapv:UnspecifiedMatching +obo:GARD_16587 Idiopathic hypercalciuria skos:exactMatch Orphanet:2197 semapv:UnspecifiedMatching +obo:GARD_16587 Idiopathic hypercalciuria skos:narrowMatch OMIM:143870 semapv:UnspecifiedMatching +obo:GARD_16587 Idiopathic hypercalciuria skos:narrowMatch OMIM:607258 semapv:UnspecifiedMatching +obo:GARD_16588 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch Orphanet:2232 semapv:UnspecifiedMatching +obo:GARD_16588 Primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:narrowMatch OMIM:241090 semapv:UnspecifiedMatching +obo:GARD_16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch Orphanet:2239 semapv:UnspecifiedMatching +obo:GARD_16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:narrowMatch OMIM:146200 semapv:UnspecifiedMatching +obo:GARD_16589 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:narrowMatch OMIM:307700 semapv:UnspecifiedMatching +obo:GARD_16590 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2250 semapv:UnspecifiedMatching +obo:GARD_16590 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:narrowMatch OMIM:603457 semapv:UnspecifiedMatching +obo:GARD_16591 Primary pulmonary hypoplasia skos:exactMatch Orphanet:2257 semapv:UnspecifiedMatching +obo:GARD_16591 Primary pulmonary hypoplasia skos:narrowMatch OMIM:265430 semapv:UnspecifiedMatching +obo:GARD_16592 Congenital short bowel syndrome skos:exactMatch Orphanet:2301 semapv:UnspecifiedMatching +obo:GARD_16592 Congenital short bowel syndrome skos:narrowMatch OMIM:300048 semapv:UnspecifiedMatching +obo:GARD_16592 Congenital short bowel syndrome skos:narrowMatch OMIM:615237 semapv:UnspecifiedMatching +obo:GARD_16593 Absence deformity of leg-cataract syndrome skos:exactMatch Orphanet:2310 semapv:UnspecifiedMatching +obo:GARD_16593 Absence deformity of leg-cataract syndrome skos:narrowMatch OMIM:246000 semapv:UnspecifiedMatching +obo:GARD_16594 Kenny-Caffey syndrome skos:exactMatch Orphanet:2333 semapv:UnspecifiedMatching +obo:GARD_16594 Kenny-Caffey syndrome skos:narrowMatch OMIM:127000 semapv:UnspecifiedMatching +obo:GARD_16594 Kenny-Caffey syndrome skos:narrowMatch OMIM:244460 semapv:UnspecifiedMatching +obo:GARD_16595 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch Orphanet:2370 semapv:UnspecifiedMatching +obo:GARD_16595 Larsen-like osseous dysplasia-short stature syndrome skos:narrowMatch OMIM:608545 semapv:UnspecifiedMatching +obo:GARD_16596 Congenital laryngeal web skos:exactMatch Orphanet:2374 semapv:UnspecifiedMatching +obo:GARD_16596 Congenital laryngeal web skos:narrowMatch OMIM:150360 semapv:UnspecifiedMatching +obo:GARD_16597 Laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch Orphanet:2375 semapv:UnspecifiedMatching +obo:GARD_16597 Laryngeal abductor paralysis-intellectual disability syndrome skos:narrowMatch OMIM:308850 semapv:UnspecifiedMatching +obo:GARD_16598 Macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch Orphanet:2429 semapv:UnspecifiedMatching +obo:GARD_16598 Macrocephaly-spastic paraplegia-dysmorphism syndrome skos:narrowMatch OMIM:600302 semapv:UnspecifiedMatching +obo:GARD_16599 Congenital macroglossia skos:exactMatch Orphanet:2430 semapv:UnspecifiedMatching +obo:GARD_16599 Congenital macroglossia skos:narrowMatch OMIM:153630 semapv:UnspecifiedMatching +obo:GARD_166 Schizencephaly skos:exactMatch Orphanet:799 semapv:UnspecifiedMatching +obo:GARD_166 Schizencephaly skos:narrowMatch OMIM:269160 semapv:UnspecifiedMatching +obo:GARD_16600 Mucocutaneous venous malformations skos:exactMatch Orphanet:2451 semapv:UnspecifiedMatching +obo:GARD_16600 Mucocutaneous venous malformations skos:narrowMatch OMIM:600195 semapv:UnspecifiedMatching +obo:GARD_16601 Megalencephaly skos:exactMatch Orphanet:2477 semapv:UnspecifiedMatching +obo:GARD_16601 Megalencephaly skos:narrowMatch OMIM:155350 semapv:UnspecifiedMatching +obo:GARD_16601 Megalencephaly skos:narrowMatch OMIM:248000 semapv:UnspecifiedMatching +obo:GARD_16602 Upper limb defect-eye and ear abnormalities syndrome skos:exactMatch Orphanet:2489 semapv:UnspecifiedMatching +obo:GARD_16602 Upper limb defect-eye and ear abnormalities syndrome skos:narrowMatch OMIM:274205 semapv:UnspecifiedMatching +obo:GARD_16603 Autosomal recessive chorioretinopathy-microcephaly syndrome skos:exactMatch Orphanet:2518 semapv:UnspecifiedMatching +obo:GARD_16603 Autosomal recessive chorioretinopathy-microcephaly syndrome skos:narrowMatch OMIM:251270 semapv:UnspecifiedMatching +obo:GARD_16603 Autosomal recessive chorioretinopathy-microcephaly syndrome skos:narrowMatch OMIM:616335 semapv:UnspecifiedMatching +obo:GARD_16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching +obo:GARD_16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:616286 semapv:UnspecifiedMatching +obo:GARD_16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:616287 semapv:UnspecifiedMatching +obo:GARD_16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:617468 semapv:UnspecifiedMatching +obo:GARD_16604 Hypomyelination neuropathy-arthrogryposis syndrome skos:narrowMatch OMIM:618186 semapv:UnspecifiedMatching +obo:GARD_16605 Adult idiopathic neutropenia skos:exactMatch Orphanet:2688 semapv:UnspecifiedMatching +obo:GARD_16605 Adult idiopathic neutropenia skos:narrowMatch OMIM:607847 semapv:UnspecifiedMatching +obo:GARD_16606 Oculo-palato-cerebral syndrome skos:exactMatch Orphanet:2714 semapv:UnspecifiedMatching +obo:GARD_16606 Oculo-palato-cerebral syndrome skos:narrowMatch OMIM:257910 semapv:UnspecifiedMatching +obo:GARD_16607 Oculotrichodysplasia skos:exactMatch Orphanet:2718 semapv:UnspecifiedMatching +obo:GARD_16607 Oculotrichodysplasia skos:narrowMatch OMIM:257960 semapv:UnspecifiedMatching +obo:GARD_16608 Omodysplasia skos:exactMatch Orphanet:2733 semapv:UnspecifiedMatching +obo:GARD_16608 Omodysplasia skos:narrowMatch OMIM:164745 semapv:UnspecifiedMatching +obo:GARD_16608 Omodysplasia skos:narrowMatch OMIM:258315 semapv:UnspecifiedMatching +obo:GARD_16609 Familial recurrent peripheral facial palsy skos:exactMatch Orphanet:2809 semapv:UnspecifiedMatching +obo:GARD_16609 Familial recurrent peripheral facial palsy skos:narrowMatch OMIM:134200 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:300557 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:600116 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:602404 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:605909 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:606324 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:606852 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:610297 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:613643 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:615528 semapv:UnspecifiedMatching +obo:GARD_16610 Young-onset Parkinson disease skos:narrowMatch OMIM:616840 semapv:UnspecifiedMatching +obo:GARD_16611 Pelvis-shoulder dysplasia skos:exactMatch Orphanet:2839 semapv:UnspecifiedMatching +obo:GARD_16611 Pelvis-shoulder dysplasia skos:narrowMatch OMIM:169550 semapv:UnspecifiedMatching +obo:GARD_16612 Short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch Orphanet:2868 semapv:UnspecifiedMatching +obo:GARD_16612 Short stature-valvular heart disease-characteristic facies syndrome skos:narrowMatch OMIM:126190 semapv:UnspecifiedMatching +obo:GARD_16613 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch Orphanet:2880 semapv:UnspecifiedMatching +obo:GARD_16613 Phosphoenolpyruvate carboxykinase deficiency skos:narrowMatch OMIM:261650 semapv:UnspecifiedMatching +obo:GARD_16613 Phosphoenolpyruvate carboxykinase deficiency skos:narrowMatch OMIM:261680 semapv:UnspecifiedMatching +obo:GARD_16614 Postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch Orphanet:2916 semapv:UnspecifiedMatching +obo:GARD_16614 Postaxial polydactyly-dental and vertebral anomalies syndrome skos:narrowMatch OMIM:263540 semapv:UnspecifiedMatching +obo:GARD_16615 Absent thumb-short stature-immunodeficiency syndrome skos:exactMatch Orphanet:2951 semapv:UnspecifiedMatching +obo:GARD_16615 Absent thumb-short stature-immunodeficiency syndrome skos:narrowMatch OMIM:274190 semapv:UnspecifiedMatching +obo:GARD_16616 Leukocyte adhesion deficiency skos:exactMatch Orphanet:2968 semapv:UnspecifiedMatching +obo:GARD_16616 Leukocyte adhesion deficiency skos:narrowMatch OMIM:116920 semapv:UnspecifiedMatching +obo:GARD_16616 Leukocyte adhesion deficiency skos:narrowMatch OMIM:266265 semapv:UnspecifiedMatching +obo:GARD_16616 Leukocyte adhesion deficiency skos:narrowMatch OMIM:612840 semapv:UnspecifiedMatching +obo:GARD_16617 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch Orphanet:2975 semapv:UnspecifiedMatching +obo:GARD_16617 46,XX disorder of sex development-skeletal anomalies syndrome skos:narrowMatch OMIM:264270 semapv:UnspecifiedMatching +obo:GARD_16618 Blepharophimosis-intellectual disability syndrome, SBBYS type skos:exactMatch Orphanet:3047 semapv:UnspecifiedMatching +obo:GARD_16618 Blepharophimosis-intellectual disability syndrome, SBBYS type skos:narrowMatch OMIM:603736 semapv:UnspecifiedMatching +obo:GARD_16619 Fixed subaortic stenosis skos:exactMatch Orphanet:3092 semapv:UnspecifiedMatching +obo:GARD_16619 Fixed subaortic stenosis skos:narrowMatch OMIM:271950 semapv:UnspecifiedMatching +obo:GARD_16620 Autosomal dominant Robinow syndrome skos:exactMatch Orphanet:3107 semapv:UnspecifiedMatching +obo:GARD_16620 Autosomal dominant Robinow syndrome skos:narrowMatch OMIM:180700 semapv:UnspecifiedMatching +obo:GARD_16620 Autosomal dominant Robinow syndrome skos:narrowMatch OMIM:616331 semapv:UnspecifiedMatching +obo:GARD_16620 Autosomal dominant Robinow syndrome skos:narrowMatch OMIM:616894 semapv:UnspecifiedMatching +obo:GARD_16621 Alpha-N-acetylgalactosaminidase deficiency skos:exactMatch Orphanet:3137 semapv:UnspecifiedMatching +obo:GARD_16621 Alpha-N-acetylgalactosaminidase deficiency skos:narrowMatch OMIM:609241 semapv:UnspecifiedMatching +obo:GARD_16621 Alpha-N-acetylgalactosaminidase deficiency skos:narrowMatch OMIM:609242 semapv:UnspecifiedMatching +obo:GARD_16622 X-linked spasticity-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching +obo:GARD_16622 X-linked spasticity-intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +obo:GARD_16623 Congenital pulmonary valvar stenosis skos:exactMatch Orphanet:3189 semapv:UnspecifiedMatching +obo:GARD_16623 Congenital pulmonary valvar stenosis skos:narrowMatch OMIM:265500 semapv:UnspecifiedMatching +obo:GARD_16624 Deafness-onychodystrophy syndrome skos:exactMatch Orphanet:3231 semapv:UnspecifiedMatching +obo:GARD_16624 Deafness-onychodystrophy syndrome skos:narrowMatch OMIM:124480 semapv:UnspecifiedMatching +obo:GARD_16624 Deafness-onychodystrophy syndrome skos:narrowMatch OMIM:220500 semapv:UnspecifiedMatching +obo:GARD_16625 Idiopathic hypereosinophilic syndrome skos:exactMatch Orphanet:3260 semapv:UnspecifiedMatching +obo:GARD_16625 Idiopathic hypereosinophilic syndrome skos:narrowMatch OMIM:607685 semapv:UnspecifiedMatching +obo:GARD_16626 Non-syndromic metopic craniosynostosis skos:exactMatch Orphanet:3366 semapv:UnspecifiedMatching +obo:GARD_16626 Non-syndromic metopic craniosynostosis skos:narrowMatch OMIM:190440 semapv:UnspecifiedMatching +obo:GARD_16626 Non-syndromic metopic craniosynostosis skos:narrowMatch OMIM:614485 semapv:UnspecifiedMatching +obo:GARD_16627 Truncus arteriosus skos:exactMatch Orphanet:3384 semapv:UnspecifiedMatching +obo:GARD_16627 Truncus arteriosus skos:narrowMatch OMIM:217095 semapv:UnspecifiedMatching +obo:GARD_16628 Hereditary xanthinuria skos:exactMatch Orphanet:3467 semapv:UnspecifiedMatching +obo:GARD_16628 Hereditary xanthinuria skos:narrowMatch OMIM:278300 semapv:UnspecifiedMatching +obo:GARD_16628 Hereditary xanthinuria skos:narrowMatch OMIM:603592 semapv:UnspecifiedMatching +obo:GARD_16629 Hereditary central diabetes insipidus skos:exactMatch Orphanet:30925 semapv:UnspecifiedMatching +obo:GARD_16629 Hereditary central diabetes insipidus skos:narrowMatch OMIM:125700 semapv:UnspecifiedMatching +obo:GARD_16629 Hereditary central diabetes insipidus skos:narrowMatch OMIM:304900 semapv:UnspecifiedMatching +obo:GARD_16630 Neuroectodermal melanolysosomal disease skos:exactMatch Orphanet:33445 semapv:UnspecifiedMatching +obo:GARD_16630 Neuroectodermal melanolysosomal disease skos:narrowMatch OMIM:256710 semapv:UnspecifiedMatching +obo:GARD_16631 Glutamate-cysteine ligase deficiency skos:exactMatch Orphanet:33574 semapv:UnspecifiedMatching +obo:GARD_16631 Glutamate-cysteine ligase deficiency skos:narrowMatch OMIM:230450 semapv:UnspecifiedMatching +obo:GARD_16632 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch Orphanet:35078 semapv:UnspecifiedMatching +obo:GARD_16632 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:narrowMatch OMIM:600802 semapv:UnspecifiedMatching +obo:GARD_16633 Non-syndromic sagittal craniosynostosis skos:exactMatch Orphanet:35093 semapv:UnspecifiedMatching +obo:GARD_16633 Non-syndromic sagittal craniosynostosis skos:narrowMatch OMIM:123100 semapv:UnspecifiedMatching +obo:GARD_16633 Non-syndromic sagittal craniosynostosis skos:narrowMatch OMIM:600775 semapv:UnspecifiedMatching +obo:GARD_16633 Non-syndromic sagittal craniosynostosis skos:narrowMatch OMIM:615529 semapv:UnspecifiedMatching +obo:GARD_16634 Non-syndromic bicoronal craniosynostosis skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching +obo:GARD_16634 Non-syndromic bicoronal craniosynostosis skos:narrowMatch OMIM:123100 semapv:UnspecifiedMatching +obo:GARD_16634 Non-syndromic bicoronal craniosynostosis skos:narrowMatch OMIM:615314 semapv:UnspecifiedMatching +obo:GARD_16634 Non-syndromic bicoronal craniosynostosis skos:narrowMatch OMIM:616602 semapv:UnspecifiedMatching +obo:GARD_16635 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch Orphanet:35120 semapv:UnspecifiedMatching +obo:GARD_16635 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:narrowMatch OMIM:266120 semapv:UnspecifiedMatching +obo:GARD_16636 Lysosomal acid phosphatase deficiency skos:exactMatch Orphanet:35121 semapv:UnspecifiedMatching +obo:GARD_16636 Lysosomal acid phosphatase deficiency skos:narrowMatch OMIM:200950 semapv:UnspecifiedMatching +obo:GARD_16637 Nanophthalmos skos:exactMatch Orphanet:35612 semapv:UnspecifiedMatching +obo:GARD_16637 Nanophthalmos skos:narrowMatch OMIM:600165 semapv:UnspecifiedMatching +obo:GARD_16637 Nanophthalmos skos:narrowMatch OMIM:609549 semapv:UnspecifiedMatching +obo:GARD_16637 Nanophthalmos skos:narrowMatch OMIM:611897 semapv:UnspecifiedMatching +obo:GARD_16637 Nanophthalmos skos:narrowMatch OMIM:613517 semapv:UnspecifiedMatching +obo:GARD_16637 Nanophthalmos skos:narrowMatch OMIM:615972 semapv:UnspecifiedMatching +obo:GARD_16638 ALDH18A1-related De Barsy syndrome skos:exactMatch Orphanet:35664 semapv:UnspecifiedMatching +obo:GARD_16638 ALDH18A1-related De Barsy syndrome skos:narrowMatch OMIM:219150 semapv:UnspecifiedMatching +obo:GARD_16639 Combined deficiency of factor V and factor VIII skos:exactMatch Orphanet:35909 semapv:UnspecifiedMatching +obo:GARD_16639 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:227300 semapv:UnspecifiedMatching +obo:GARD_16639 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:227310 semapv:UnspecifiedMatching +obo:GARD_16639 Combined deficiency of factor V and factor VIII skos:narrowMatch OMIM:613625 semapv:UnspecifiedMatching +obo:GARD_16640 Distal monosomy 1q skos:exactMatch Orphanet:36367 semapv:UnspecifiedMatching +obo:GARD_16640 Distal monosomy 1q skos:narrowMatch OMIM:612337 semapv:UnspecifiedMatching +obo:GARD_16641 Episodic ataxia type 1 skos:exactMatch Orphanet:37612 semapv:UnspecifiedMatching +obo:GARD_16641 Episodic ataxia type 1 skos:narrowMatch OMIM:160120 semapv:UnspecifiedMatching +obo:GARD_16642 Graft versus host disease skos:exactMatch Orphanet:39812 semapv:UnspecifiedMatching +obo:GARD_16642 Graft versus host disease skos:narrowMatch OMIM:614395 semapv:UnspecifiedMatching +obo:GARD_16643 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch Orphanet:43115 semapv:UnspecifiedMatching +obo:GARD_16643 Hereditary myopathy with lactic acidosis due to ISCU deficiency skos:narrowMatch OMIM:255125 semapv:UnspecifiedMatching +obo:GARD_16644 Proximal renal tubular acidosis skos:exactMatch Orphanet:47159 semapv:UnspecifiedMatching +obo:GARD_16644 Proximal renal tubular acidosis skos:narrowMatch OMIM:179830 semapv:UnspecifiedMatching +obo:GARD_16644 Proximal renal tubular acidosis skos:narrowMatch OMIM:604278 semapv:UnspecifiedMatching +obo:GARD_16645 Congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch Orphanet:48431 semapv:UnspecifiedMatching +obo:GARD_16645 Congenital cataracts-facial dysmorphism-neuropathy syndrome skos:narrowMatch OMIM:604168 semapv:UnspecifiedMatching +obo:GARD_16646 Lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch Orphanet:50811 semapv:UnspecifiedMatching +obo:GARD_16646 Lipodystrophy-intellectual disability-deafness syndrome skos:narrowMatch OMIM:608154 semapv:UnspecifiedMatching +obo:GARD_16647 Craniolenticulosutural dysplasia skos:exactMatch Orphanet:50814 semapv:UnspecifiedMatching +obo:GARD_16647 Craniolenticulosutural dysplasia skos:narrowMatch OMIM:607812 semapv:UnspecifiedMatching +obo:GARD_16648 Branchiogenic deafness syndrome skos:exactMatch Orphanet:50815 semapv:UnspecifiedMatching +obo:GARD_16648 Branchiogenic deafness syndrome skos:narrowMatch OMIM:609166 semapv:UnspecifiedMatching +obo:GARD_16649 Schöpf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching +obo:GARD_16649 Schöpf-Schulz-Passarge syndrome skos:narrowMatch OMIM:224750 semapv:UnspecifiedMatching +obo:GARD_16650 Familial short QT syndrome skos:exactMatch Orphanet:51083 semapv:UnspecifiedMatching +obo:GARD_16650 Familial short QT syndrome skos:narrowMatch OMIM:609620 semapv:UnspecifiedMatching +obo:GARD_16650 Familial short QT syndrome skos:narrowMatch OMIM:609621 semapv:UnspecifiedMatching +obo:GARD_16650 Familial short QT syndrome skos:narrowMatch OMIM:609622 semapv:UnspecifiedMatching +obo:GARD_16651 Torsade-de-pointes syndrome with short coupling interval skos:exactMatch Orphanet:51084 semapv:UnspecifiedMatching +obo:GARD_16651 Torsade-de-pointes syndrome with short coupling interval skos:narrowMatch OMIM:613600 semapv:UnspecifiedMatching +obo:GARD_16652 Braddock syndrome skos:exactMatch Orphanet:52047 semapv:UnspecifiedMatching +obo:GARD_16652 Braddock syndrome skos:narrowMatch OMIM:608406 semapv:UnspecifiedMatching +obo:GARD_16653 Craniosynostosis-intracranial calcifications syndrome skos:exactMatch Orphanet:52054 semapv:UnspecifiedMatching +obo:GARD_16653 Craniosynostosis-intracranial calcifications syndrome skos:narrowMatch OMIM:608432 semapv:UnspecifiedMatching +obo:GARD_16654 Ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch Orphanet:52056 semapv:UnspecifiedMatching +obo:GARD_16654 Ulnar/fibula ray defect-brachydactyly syndrome skos:narrowMatch OMIM:608571 semapv:UnspecifiedMatching +obo:GARD_16655 Retinitis punctata albescens skos:exactMatch Orphanet:52427 semapv:UnspecifiedMatching +obo:GARD_16655 Retinitis punctata albescens skos:narrowMatch OMIM:136880 semapv:UnspecifiedMatching +obo:GARD_16656 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:exactMatch Orphanet:53583 semapv:UnspecifiedMatching +obo:GARD_16656 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity skos:narrowMatch OMIM:601042 semapv:UnspecifiedMatching +obo:GARD_16657 Congenital cornea plana skos:exactMatch Orphanet:53691 semapv:UnspecifiedMatching +obo:GARD_16657 Congenital cornea plana skos:narrowMatch OMIM:121400 semapv:UnspecifiedMatching +obo:GARD_16657 Congenital cornea plana skos:narrowMatch OMIM:217300 semapv:UnspecifiedMatching +obo:GARD_16658 Arthrogryposis-anterior horn cell disease syndrome skos:exactMatch Orphanet:53696 semapv:UnspecifiedMatching +obo:GARD_16658 Arthrogryposis-anterior horn cell disease syndrome skos:narrowMatch OMIM:611890 semapv:UnspecifiedMatching +obo:GARD_16659 Thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:54057 semapv:UnspecifiedMatching +obo:GARD_16659 Thrombotic thrombocytopenic purpura skos:narrowMatch OMIM:274150 semapv:UnspecifiedMatching +obo:GARD_1666 Hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch Orphanet:2181 semapv:UnspecifiedMatching +obo:GARD_1666 Hydrocephaly-tall stature-joint laxity syndrome skos:narrowMatch OMIM:236660 semapv:UnspecifiedMatching +obo:GARD_16660 Adamantinoma skos:exactMatch Orphanet:55881 semapv:UnspecifiedMatching +obo:GARD_16660 Adamantinoma skos:narrowMatch OMIM:102660 semapv:UnspecifiedMatching +obo:GARD_16661 Schilder disease skos:exactMatch Orphanet:59298 semapv:UnspecifiedMatching +obo:GARD_16661 Schilder disease skos:narrowMatch OMIM:272100 semapv:UnspecifiedMatching +obo:GARD_16662 Enlarged parietal foramina skos:exactMatch Orphanet:60015 semapv:UnspecifiedMatching +obo:GARD_16662 Enlarged parietal foramina skos:narrowMatch OMIM:168500 semapv:UnspecifiedMatching +obo:GARD_16662 Enlarged parietal foramina skos:narrowMatch OMIM:609566 semapv:UnspecifiedMatching +obo:GARD_16662 Enlarged parietal foramina skos:narrowMatch OMIM:609597 semapv:UnspecifiedMatching +obo:GARD_16663 Pulmonary nodular lymphoid hyperplasia skos:exactMatch Orphanet:60026 semapv:UnspecifiedMatching +obo:GARD_16663 Pulmonary nodular lymphoid hyperplasia skos:narrowMatch OMIM:178610 semapv:UnspecifiedMatching +obo:GARD_16664 Idiopathic bronchiectasis skos:exactMatch Orphanet:60033 semapv:UnspecifiedMatching +obo:GARD_16664 Idiopathic bronchiectasis skos:narrowMatch OMIM:211400 semapv:UnspecifiedMatching +obo:GARD_16664 Idiopathic bronchiectasis skos:narrowMatch OMIM:613021 semapv:UnspecifiedMatching +obo:GARD_16664 Idiopathic bronchiectasis skos:narrowMatch OMIM:613071 semapv:UnspecifiedMatching +obo:GARD_16665 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis skos:exactMatch Orphanet:63269 semapv:UnspecifiedMatching +obo:GARD_16665 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis skos:narrowMatch OMIM:201750 semapv:UnspecifiedMatching +obo:GARD_16666 Distal myopathy with posterior leg and anterior hand involvement skos:exactMatch Orphanet:63273 semapv:UnspecifiedMatching +obo:GARD_16666 Distal myopathy with posterior leg and anterior hand involvement skos:narrowMatch OMIM:614065 semapv:UnspecifiedMatching +obo:GARD_16667 Childhood absence epilepsy skos:exactMatch Orphanet:64280 semapv:UnspecifiedMatching +obo:GARD_16667 Childhood absence epilepsy skos:narrowMatch OMIM:600131 semapv:UnspecifiedMatching +obo:GARD_16667 Childhood absence epilepsy skos:narrowMatch OMIM:607681 semapv:UnspecifiedMatching +obo:GARD_16667 Childhood absence epilepsy skos:narrowMatch OMIM:611136 semapv:UnspecifiedMatching +obo:GARD_16667 Childhood absence epilepsy skos:narrowMatch OMIM:611942 semapv:UnspecifiedMatching +obo:GARD_16667 Childhood absence epilepsy skos:narrowMatch OMIM:612269 semapv:UnspecifiedMatching +obo:GARD_16668 Ovarian hyperstimulation syndrome skos:exactMatch Orphanet:64739 semapv:UnspecifiedMatching +obo:GARD_16668 Ovarian hyperstimulation syndrome skos:narrowMatch OMIM:608115 semapv:UnspecifiedMatching +obo:GARD_16669 Beta-ureidopropionase deficiency skos:exactMatch Orphanet:65287 semapv:UnspecifiedMatching +obo:GARD_16669 Beta-ureidopropionase deficiency skos:narrowMatch OMIM:613161 semapv:UnspecifiedMatching +obo:GARD_16670 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch Orphanet:65288 semapv:UnspecifiedMatching +obo:GARD_16670 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:narrowMatch OMIM:609069 semapv:UnspecifiedMatching +obo:GARD_16671 Isolated focal cortical dysplasia skos:exactMatch Orphanet:65683 semapv:UnspecifiedMatching +obo:GARD_16671 Isolated focal cortical dysplasia skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +obo:GARD_16672 Arthrogryposis-severe scoliosis syndrome skos:exactMatch Orphanet:65720 semapv:UnspecifiedMatching +obo:GARD_16672 Arthrogryposis-severe scoliosis syndrome skos:narrowMatch OMIM:609128 semapv:UnspecifiedMatching +obo:GARD_16673 Congenital pseudoarthrosis of the clavicle skos:exactMatch Orphanet:66630 semapv:UnspecifiedMatching +obo:GARD_16673 Congenital pseudoarthrosis of the clavicle skos:narrowMatch OMIM:118980 semapv:UnspecifiedMatching +obo:GARD_16674 Diaphanospondylodysostosis skos:exactMatch Orphanet:66637 semapv:UnspecifiedMatching +obo:GARD_16674 Diaphanospondylodysostosis skos:narrowMatch OMIM:608022 semapv:UnspecifiedMatching +obo:GARD_16675 Hyaluronidase deficiency skos:exactMatch Orphanet:67041 semapv:UnspecifiedMatching +obo:GARD_16675 Hyaluronidase deficiency skos:narrowMatch OMIM:601492 semapv:UnspecifiedMatching +obo:GARD_16676 Thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch Orphanet:67044 semapv:UnspecifiedMatching +obo:GARD_16676 Thrombocytopenia with congenital dyserythropoietic anemia skos:narrowMatch OMIM:300367 semapv:UnspecifiedMatching +obo:GARD_16677 X-linked intellectual disability with isolated growth hormone deficiency skos:exactMatch Orphanet:67045 semapv:UnspecifiedMatching +obo:GARD_16677 X-linked intellectual disability with isolated growth hormone deficiency skos:narrowMatch OMIM:300123 semapv:UnspecifiedMatching +obo:GARD_16678 Idiopathic steroid-sensitive nephrotic syndrome skos:exactMatch Orphanet:69061 semapv:UnspecifiedMatching +obo:GARD_16678 Idiopathic steroid-sensitive nephrotic syndrome skos:narrowMatch OMIM:615861 semapv:UnspecifiedMatching +obo:GARD_16679 Odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch Orphanet:69082 semapv:UnspecifiedMatching +obo:GARD_16679 Odonto-tricho-ungual-digito-palmar syndrome skos:narrowMatch OMIM:601957 semapv:UnspecifiedMatching +obo:GARD_16680 Pure hair and nail ectodermal dysplasia skos:exactMatch Orphanet:69084 semapv:UnspecifiedMatching +obo:GARD_16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:602032 semapv:UnspecifiedMatching +obo:GARD_16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614927 semapv:UnspecifiedMatching +obo:GARD_16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614928 semapv:UnspecifiedMatching +obo:GARD_16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614929 semapv:UnspecifiedMatching +obo:GARD_16680 Pure hair and nail ectodermal dysplasia skos:narrowMatch OMIM:614931 semapv:UnspecifiedMatching +obo:GARD_16681 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch Orphanet:69088 semapv:UnspecifiedMatching +obo:GARD_16681 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:narrowMatch OMIM:300291 semapv:UnspecifiedMatching +obo:GARD_16682 Anonychia with flexural pigmentation skos:exactMatch Orphanet:69125 semapv:UnspecifiedMatching +obo:GARD_16682 Anonychia with flexural pigmentation skos:narrowMatch OMIM:106750 semapv:UnspecifiedMatching +obo:GARD_16683 Low phospholipid-associated cholelithiasis skos:exactMatch Orphanet:69663 semapv:UnspecifiedMatching +obo:GARD_16683 Low phospholipid-associated cholelithiasis skos:narrowMatch OMIM:600803 semapv:UnspecifiedMatching +obo:GARD_16684 Bosley-Salih-Alorainy syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching +obo:GARD_16684 Bosley-Salih-Alorainy syndrome skos:narrowMatch OMIM:601536 semapv:UnspecifiedMatching +obo:GARD_16685 Leigh syndrome with cardiomyopathy skos:exactMatch Orphanet:70474 semapv:UnspecifiedMatching +obo:GARD_16685 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +obo:GARD_16685 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:618228 semapv:UnspecifiedMatching +obo:GARD_16685 Leigh syndrome with cardiomyopathy skos:narrowMatch OMIM:618252 semapv:UnspecifiedMatching +obo:GARD_16686 Split hand-split foot-deafness syndrome skos:exactMatch Orphanet:71271 semapv:UnspecifiedMatching +obo:GARD_16686 Split hand-split foot-deafness syndrome skos:narrowMatch OMIM:220600 semapv:UnspecifiedMatching +obo:GARD_16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch Orphanet:71289 semapv:UnspecifiedMatching +obo:GARD_16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:narrowMatch OMIM:605432 semapv:UnspecifiedMatching +obo:GARD_16687 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:narrowMatch OMIM:616738 semapv:UnspecifiedMatching +obo:GARD_16688 Familial thrombocytosis skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching +obo:GARD_16688 Familial thrombocytosis skos:narrowMatch OMIM:187950 semapv:UnspecifiedMatching +obo:GARD_16688 Familial thrombocytosis skos:narrowMatch OMIM:601977 semapv:UnspecifiedMatching +obo:GARD_16688 Familial thrombocytosis skos:narrowMatch OMIM:614521 semapv:UnspecifiedMatching +obo:GARD_16689 Obesity due to prohormone convertase I deficiency skos:exactMatch Orphanet:71528 semapv:UnspecifiedMatching +obo:GARD_16689 Obesity due to prohormone convertase I deficiency skos:narrowMatch OMIM:600955 semapv:UnspecifiedMatching +obo:GARD_1669 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch Orphanet:1566 semapv:UnspecifiedMatching +obo:GARD_1669 Dandy-Walker malformation-postaxial polydactyly syndrome skos:narrowMatch OMIM:220220 semapv:UnspecifiedMatching +obo:GARD_16690 Obesity due to melanocortin 4 receptor deficiency skos:exactMatch Orphanet:71529 semapv:UnspecifiedMatching +obo:GARD_16690 Obesity due to melanocortin 4 receptor deficiency skos:narrowMatch OMIM:601665 semapv:UnspecifiedMatching +obo:GARD_16690 Obesity due to melanocortin 4 receptor deficiency skos:narrowMatch OMIM:618406 semapv:UnspecifiedMatching +obo:GARD_16691 Bleeding diathesis due to a collagen receptor defect skos:exactMatch Orphanet:73271 semapv:UnspecifiedMatching +obo:GARD_16691 Bleeding diathesis due to a collagen receptor defect skos:narrowMatch OMIM:614200 semapv:UnspecifiedMatching +obo:GARD_16691 Bleeding diathesis due to a collagen receptor defect skos:narrowMatch OMIM:614201 semapv:UnspecifiedMatching +obo:GARD_16692 Familial isolated restrictive cardiomyopathy skos:exactMatch Orphanet:75249 semapv:UnspecifiedMatching +obo:GARD_16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:115210 semapv:UnspecifiedMatching +obo:GARD_16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:609578 semapv:UnspecifiedMatching +obo:GARD_16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:612422 semapv:UnspecifiedMatching +obo:GARD_16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:615248 semapv:UnspecifiedMatching +obo:GARD_16692 Familial isolated restrictive cardiomyopathy skos:narrowMatch OMIM:617047 semapv:UnspecifiedMatching +obo:GARD_16693 Retinal arterial tortuosity skos:exactMatch Orphanet:75326 semapv:UnspecifiedMatching +obo:GARD_16693 Retinal arterial tortuosity skos:narrowMatch OMIM:180000 semapv:UnspecifiedMatching +obo:GARD_16694 Cystoid macular dystrophy skos:exactMatch Orphanet:75381 semapv:UnspecifiedMatching +obo:GARD_16694 Cystoid macular dystrophy skos:narrowMatch OMIM:153880 semapv:UnspecifiedMatching +obo:GARD_16695 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch Orphanet:75391 semapv:UnspecifiedMatching +obo:GARD_16695 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:narrowMatch OMIM:609981 semapv:UnspecifiedMatching +obo:GARD_16696 Juvenile polyposis of infancy skos:exactMatch Orphanet:79076 semapv:UnspecifiedMatching +obo:GARD_16696 Juvenile polyposis of infancy skos:narrowMatch OMIM:175050 semapv:UnspecifiedMatching +obo:GARD_16696 Juvenile polyposis of infancy skos:narrowMatch OMIM:612242 semapv:UnspecifiedMatching +obo:GARD_16697 Grange syndrome skos:exactMatch Orphanet:79094 semapv:UnspecifiedMatching +obo:GARD_16697 Grange syndrome skos:narrowMatch OMIM:602531 semapv:UnspecifiedMatching +obo:GARD_16698 Eiken syndrome skos:exactMatch Orphanet:79106 semapv:UnspecifiedMatching +obo:GARD_16698 Eiken syndrome skos:narrowMatch OMIM:600002 semapv:UnspecifiedMatching +obo:GARD_16699 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome skos:exactMatch Orphanet:79118 semapv:UnspecifiedMatching +obo:GARD_16699 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome skos:narrowMatch OMIM:610199 semapv:UnspecifiedMatching +obo:GARD_16700 Lymphoid interstitial pneumonia skos:exactMatch Orphanet:79128 semapv:UnspecifiedMatching +obo:GARD_16700 Lymphoid interstitial pneumonia skos:narrowMatch OMIM:247610 semapv:UnspecifiedMatching +obo:GARD_16701 DEND syndrome skos:exactMatch Orphanet:79134 semapv:UnspecifiedMatching +obo:GARD_16701 DEND syndrome skos:narrowMatch OMIM:606176 semapv:UnspecifiedMatching +obo:GARD_16702 Episodic ataxia type 3 skos:exactMatch Orphanet:79135 semapv:UnspecifiedMatching +obo:GARD_16702 Episodic ataxia type 3 skos:narrowMatch OMIM:606554 semapv:UnspecifiedMatching +obo:GARD_16703 Episodic ataxia type 4 skos:exactMatch Orphanet:79136 semapv:UnspecifiedMatching +obo:GARD_16703 Episodic ataxia type 4 skos:narrowMatch OMIM:606552 semapv:UnspecifiedMatching +obo:GARD_16704 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch Orphanet:79137 semapv:UnspecifiedMatching +obo:GARD_16704 Generalized epilepsy-paroxysmal dyskinesia syndrome skos:narrowMatch OMIM:609446 semapv:UnspecifiedMatching +obo:GARD_16705 Hereditary painful callosities skos:exactMatch Orphanet:79141 semapv:UnspecifiedMatching +obo:GARD_16705 Hereditary painful callosities skos:narrowMatch OMIM:114140 semapv:UnspecifiedMatching +obo:GARD_16706 Familial progressive hyperpigmentation skos:exactMatch Orphanet:79146 semapv:UnspecifiedMatching +obo:GARD_16706 Familial progressive hyperpigmentation skos:narrowMatch OMIM:145250 semapv:UnspecifiedMatching +obo:GARD_16706 Familial progressive hyperpigmentation skos:narrowMatch OMIM:614233 semapv:UnspecifiedMatching +obo:GARD_16707 Acrokeratosis verruciformis of Hopf skos:exactMatch Orphanet:79151 semapv:UnspecifiedMatching +obo:GARD_16707 Acrokeratosis verruciformis of Hopf skos:narrowMatch OMIM:101900 semapv:UnspecifiedMatching +obo:GARD_16708 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch Orphanet:79154 semapv:UnspecifiedMatching +obo:GARD_16708 2-aminoadipic 2-oxoadipic aciduria skos:narrowMatch OMIM:204750 semapv:UnspecifiedMatching +obo:GARD_16709 Seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch Orphanet:79156 semapv:UnspecifiedMatching +obo:GARD_16709 Seizures-intellectual disability due to hydroxylysinuria syndrome skos:narrowMatch OMIM:236900 semapv:UnspecifiedMatching +obo:GARD_1671 Multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch Orphanet:2091 semapv:UnspecifiedMatching +obo:GARD_1671 Multinodular goiter-cystic kidney-polydactyly syndrome skos:narrowMatch OMIM:138790 semapv:UnspecifiedMatching +obo:GARD_16710 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching +obo:GARD_16710 Hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:narrowMatch OMIM:300323 semapv:UnspecifiedMatching +obo:GARD_16711 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:exactMatch Orphanet:79240 semapv:UnspecifiedMatching +obo:GARD_16711 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency skos:narrowMatch OMIM:261750 semapv:UnspecifiedMatching +obo:GARD_16712 Pyruvate dehydrogenase E2 deficiency skos:exactMatch Orphanet:79244 semapv:UnspecifiedMatching +obo:GARD_16712 Pyruvate dehydrogenase E2 deficiency skos:narrowMatch OMIM:245348 semapv:UnspecifiedMatching +obo:GARD_16713 Congenital bile acid synthesis defect type 3 skos:exactMatch Orphanet:79302 semapv:UnspecifiedMatching +obo:GARD_16713 Congenital bile acid synthesis defect type 3 skos:narrowMatch OMIM:613812 semapv:UnspecifiedMatching +obo:GARD_16714 Vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch Orphanet:79312 semapv:UnspecifiedMatching +obo:GARD_16714 Vitamin B12-unresponsive methylmalonic acidemia type mut- skos:narrowMatch OMIM:251000 semapv:UnspecifiedMatching +obo:GARD_16715 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch Orphanet:79346 semapv:UnspecifiedMatching +obo:GARD_16715 Chondrodysplasia punctata, tibial-metacarpal type skos:narrowMatch OMIM:118651 semapv:UnspecifiedMatching +obo:GARD_16716 Chondrodysplasia punctata, Toriello type skos:exactMatch Orphanet:79347 semapv:UnspecifiedMatching +obo:GARD_16716 Chondrodysplasia punctata, Toriello type skos:narrowMatch OMIM:215105 semapv:UnspecifiedMatching +obo:GARD_16717 3-phosphoserine phosphatase deficiency, infantile/juvenile form skos:exactMatch Orphanet:79350 semapv:UnspecifiedMatching +obo:GARD_16717 3-phosphoserine phosphatase deficiency, infantile/juvenile form skos:narrowMatch OMIM:614023 semapv:UnspecifiedMatching +obo:GARD_16718 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form skos:exactMatch Orphanet:79351 semapv:UnspecifiedMatching +obo:GARD_16718 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form skos:narrowMatch OMIM:601815 semapv:UnspecifiedMatching +obo:GARD_16719 Keratoderma hereditarium mutilans with ichthyosis skos:exactMatch Orphanet:79395 semapv:UnspecifiedMatching +obo:GARD_16719 Keratoderma hereditarium mutilans with ichthyosis skos:narrowMatch OMIM:604117 semapv:UnspecifiedMatching +obo:GARD_16720 Recessive dystrophic epidermolysis bullosa inversa skos:exactMatch Orphanet:79409 semapv:UnspecifiedMatching +obo:GARD_16720 Recessive dystrophic epidermolysis bullosa inversa skos:narrowMatch OMIM:226600 semapv:UnspecifiedMatching +obo:GARD_16721 Oculocutaneous albinism type 1A skos:exactMatch Orphanet:79431 semapv:UnspecifiedMatching +obo:GARD_16721 Oculocutaneous albinism type 1A skos:narrowMatch OMIM:203100 semapv:UnspecifiedMatching +obo:GARD_16722 Oculocutaneous albinism type 4 skos:exactMatch Orphanet:79435 semapv:UnspecifiedMatching +obo:GARD_16722 Oculocutaneous albinism type 4 skos:narrowMatch OMIM:606574 semapv:UnspecifiedMatching +obo:GARD_16723 Maculopapular cutaneous mastocytosis skos:exactMatch Orphanet:79457 semapv:UnspecifiedMatching +obo:GARD_16723 Maculopapular cutaneous mastocytosis skos:narrowMatch OMIM:154800 semapv:UnspecifiedMatching +obo:GARD_16724 Cholesterol-ester transfer protein deficiency skos:exactMatch Orphanet:79506 semapv:UnspecifiedMatching +obo:GARD_16724 Cholesterol-ester transfer protein deficiency skos:narrowMatch OMIM:143470 semapv:UnspecifiedMatching +obo:GARD_16724 Cholesterol-ester transfer protein deficiency skos:narrowMatch OMIM:614028 semapv:UnspecifiedMatching +obo:GARD_16725 Hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch Orphanet:79507 semapv:UnspecifiedMatching +obo:GARD_16725 Hypotonia-failure to thrive-microcephaly syndrome skos:narrowMatch OMIM:614037 semapv:UnspecifiedMatching +obo:GARD_16726 Autosomal recessive hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:79643 semapv:UnspecifiedMatching +obo:GARD_16726 Autosomal recessive hyperinsulinism due to SUR1 deficiency skos:narrowMatch OMIM:256450 semapv:UnspecifiedMatching +obo:GARD_16727 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:79644 semapv:UnspecifiedMatching +obo:GARD_16727 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:narrowMatch OMIM:601820 semapv:UnspecifiedMatching +obo:GARD_16728 Glomuvenous malformation skos:exactMatch Orphanet:83454 semapv:UnspecifiedMatching +obo:GARD_16728 Glomuvenous malformation skos:narrowMatch OMIM:138000 semapv:UnspecifiedMatching +obo:GARD_16729 Enteric anendocrinosis skos:exactMatch Orphanet:83620 semapv:UnspecifiedMatching +obo:GARD_16729 Enteric anendocrinosis skos:narrowMatch OMIM:610370 semapv:UnspecifiedMatching +obo:GARD_16730 Senior-Boichis syndrome skos:exactMatch Orphanet:84081 semapv:UnspecifiedMatching +obo:GARD_16730 Senior-Boichis syndrome skos:narrowMatch OMIM:613550 semapv:UnspecifiedMatching +obo:GARD_16730 Senior-Boichis syndrome skos:narrowMatch OMIM:616217 semapv:UnspecifiedMatching +obo:GARD_16731 Hereditary thermosensitive neuropathy skos:exactMatch Orphanet:84093 semapv:UnspecifiedMatching +obo:GARD_16731 Hereditary thermosensitive neuropathy skos:narrowMatch OMIM:602107 semapv:UnspecifiedMatching +obo:GARD_16732 Desmin-related myopathy with Mallory body-like inclusions skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching +obo:GARD_16732 Desmin-related myopathy with Mallory body-like inclusions skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +obo:GARD_16733 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch Orphanet:85112 semapv:UnspecifiedMatching +obo:GARD_16733 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:narrowMatch OMIM:610644 semapv:UnspecifiedMatching +obo:GARD_16734 Bothnia retinal dystrophy skos:exactMatch Orphanet:85128 semapv:UnspecifiedMatching +obo:GARD_16734 Bothnia retinal dystrophy skos:narrowMatch OMIM:607475 semapv:UnspecifiedMatching +obo:GARD_16735 Familial digital arthropathy-brachydactyly skos:exactMatch Orphanet:85169 semapv:UnspecifiedMatching +obo:GARD_16735 Familial digital arthropathy-brachydactyly skos:narrowMatch OMIM:606835 semapv:UnspecifiedMatching +obo:GARD_16736 Microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch Orphanet:85172 semapv:UnspecifiedMatching +obo:GARD_16736 Microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:narrowMatch OMIM:618150 semapv:UnspecifiedMatching +obo:GARD_16737 Craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch Orphanet:85184 semapv:UnspecifiedMatching +obo:GARD_16737 Craniometadiaphyseal dysplasia, wormian bone type skos:narrowMatch OMIM:269300 semapv:UnspecifiedMatching +obo:GARD_16738 Metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch Orphanet:85188 semapv:UnspecifiedMatching +obo:GARD_16738 Metaphyseal dysplasia, Braun-Tinschert type skos:narrowMatch OMIM:605946 semapv:UnspecifiedMatching +obo:GARD_16739 Calvarial doughnut lesions-bone fragility syndrome skos:exactMatch Orphanet:85192 semapv:UnspecifiedMatching +obo:GARD_16739 Calvarial doughnut lesions-bone fragility syndrome skos:narrowMatch OMIM:126550 semapv:UnspecifiedMatching +obo:GARD_16740 Spondylo-ocular syndrome skos:exactMatch Orphanet:85194 semapv:UnspecifiedMatching +obo:GARD_16740 Spondylo-ocular syndrome skos:narrowMatch OMIM:605822 semapv:UnspecifiedMatching +obo:GARD_16741 Genochondromatosis type 1 skos:exactMatch Orphanet:85197 semapv:UnspecifiedMatching +obo:GARD_16741 Genochondromatosis type 1 skos:narrowMatch OMIM:137360 semapv:UnspecifiedMatching +obo:GARD_16742 X-linked intellectual disability, Armfield type skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching +obo:GARD_16742 X-linked intellectual disability, Armfield type skos:narrowMatch OMIM:300261 semapv:UnspecifiedMatching +obo:GARD_16743 X-linked intellectual disability, Cantagrel type skos:exactMatch Orphanet:85277 semapv:UnspecifiedMatching +obo:GARD_16743 X-linked intellectual disability, Cantagrel type skos:narrowMatch OMIM:300912 semapv:UnspecifiedMatching +obo:GARD_16744 KDM5C-related syndromic X-linked intellectual disability skos:exactMatch Orphanet:85279 semapv:UnspecifiedMatching +obo:GARD_16744 KDM5C-related syndromic X-linked intellectual disability skos:narrowMatch OMIM:300534 semapv:UnspecifiedMatching +obo:GARD_16745 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch Orphanet:85280 semapv:UnspecifiedMatching +obo:GARD_16745 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:narrowMatch OMIM:300471 semapv:UnspecifiedMatching +obo:GARD_16746 BRESEK syndrome skos:exactMatch Orphanet:85284 semapv:UnspecifiedMatching +obo:GARD_16746 BRESEK syndrome skos:narrowMatch OMIM:308205 semapv:UnspecifiedMatching +obo:GARD_16747 X-linked intellectual disability, Wilson type skos:exactMatch Orphanet:85290 semapv:UnspecifiedMatching +obo:GARD_16747 X-linked intellectual disability, Wilson type skos:narrowMatch OMIM:309545 semapv:UnspecifiedMatching +obo:GARD_16748 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:exactMatch Orphanet:85294 semapv:UnspecifiedMatching +obo:GARD_16748 X-linked epilepsy-learning disabilities-behavior disorders syndrome skos:narrowMatch OMIM:300491 semapv:UnspecifiedMatching +obo:GARD_16749 HSD10 disease, atypical type skos:exactMatch Orphanet:85295 semapv:UnspecifiedMatching +obo:GARD_16749 HSD10 disease, atypical type skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +obo:GARD_16750 Deafness-intellectual disability syndrome, Martin-Probst type skos:exactMatch Orphanet:85321 semapv:UnspecifiedMatching +obo:GARD_16750 Deafness-intellectual disability syndrome, Martin-Probst type skos:narrowMatch OMIM:300519 semapv:UnspecifiedMatching +obo:GARD_16751 X-linked intellectual disability, Shrimpton type skos:exactMatch Orphanet:85324 semapv:UnspecifiedMatching +obo:GARD_16751 X-linked intellectual disability, Shrimpton type skos:narrowMatch OMIM:300709 semapv:UnspecifiedMatching +obo:GARD_16752 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome skos:exactMatch Orphanet:85329 semapv:UnspecifiedMatching +obo:GARD_16752 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome skos:narrowMatch OMIM:304340 semapv:UnspecifiedMatching +obo:GARD_16753 Fried syndrome skos:exactMatch Orphanet:85335 semapv:UnspecifiedMatching +obo:GARD_16753 Fried syndrome skos:narrowMatch OMIM:304340 semapv:UnspecifiedMatching +obo:GARD_16754 ATTRV30M amyloidosis skos:exactMatch Orphanet:85447 semapv:UnspecifiedMatching +obo:GARD_16754 ATTRV30M amyloidosis skos:narrowMatch OMIM:105210 semapv:UnspecifiedMatching +obo:GARD_16755 ATTRV122I amyloidosis skos:exactMatch Orphanet:85451 semapv:UnspecifiedMatching +obo:GARD_16755 ATTRV122I amyloidosis skos:narrowMatch OMIM:105210 semapv:UnspecifiedMatching +obo:GARD_16756 X-linked reticulate pigmentary disorder skos:exactMatch Orphanet:85453 semapv:UnspecifiedMatching +obo:GARD_16756 X-linked reticulate pigmentary disorder skos:narrowMatch OMIM:301220 semapv:UnspecifiedMatching +obo:GARD_16757 Helicoid peripapillary chorioretinal degeneration skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching +obo:GARD_16757 Helicoid peripapillary chorioretinal degeneration skos:narrowMatch OMIM:108985 semapv:UnspecifiedMatching +obo:GARD_16758 Benign adult familial myoclonic epilepsy skos:exactMatch Orphanet:86814 semapv:UnspecifiedMatching +obo:GARD_16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:601068 semapv:UnspecifiedMatching +obo:GARD_16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:607876 semapv:UnspecifiedMatching +obo:GARD_16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:613608 semapv:UnspecifiedMatching +obo:GARD_16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:615127 semapv:UnspecifiedMatching +obo:GARD_16758 Benign adult familial myoclonic epilepsy skos:narrowMatch OMIM:615400 semapv:UnspecifiedMatching +obo:GARD_16759 Aplasia of lacrimal and salivary glands skos:exactMatch Orphanet:86815 semapv:UnspecifiedMatching +obo:GARD_16759 Aplasia of lacrimal and salivary glands skos:narrowMatch OMIM:180920 semapv:UnspecifiedMatching +obo:GARD_16760 Hemolytic anemia due to adenylate kinase deficiency skos:exactMatch Orphanet:86817 semapv:UnspecifiedMatching +obo:GARD_16760 Hemolytic anemia due to adenylate kinase deficiency skos:narrowMatch OMIM:612631 semapv:UnspecifiedMatching +obo:GARD_16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching +obo:GARD_16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:narrowMatch OMIM:300194 semapv:UnspecifiedMatching +obo:GARD_16761 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:narrowMatch OMIM:300990 semapv:UnspecifiedMatching +obo:GARD_16762 Atrichia with papular lesions skos:exactMatch Orphanet:86819 semapv:UnspecifiedMatching +obo:GARD_16762 Atrichia with papular lesions skos:narrowMatch OMIM:209500 semapv:UnspecifiedMatching +obo:GARD_16763 Lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch Orphanet:86822 semapv:UnspecifiedMatching +obo:GARD_16763 Lissencephaly type 3-metacarpal bone dysplasia syndrome skos:narrowMatch OMIM:601160 semapv:UnspecifiedMatching +obo:GARD_16764 Chronic myeloproliferative disease, unclassifiable skos:exactMatch Orphanet:86830 semapv:UnspecifiedMatching +obo:GARD_16764 Chronic myeloproliferative disease, unclassifiable skos:narrowMatch OMIM:131440 semapv:UnspecifiedMatching +obo:GARD_16765 Interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 semapv:UnspecifiedMatching +obo:GARD_16765 Interdigitating dendritic cell sarcoma skos:narrowMatch OMIM:267730 semapv:UnspecifiedMatching +obo:GARD_16766 Keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch Orphanet:86919 semapv:UnspecifiedMatching +obo:GARD_16766 Keratosis palmaris et plantaris-clinodactyly syndrome skos:narrowMatch OMIM:148520 semapv:UnspecifiedMatching +obo:GARD_16767 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch Orphanet:86923 semapv:UnspecifiedMatching +obo:GARD_16767 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:narrowMatch OMIM:244850 semapv:UnspecifiedMatching +obo:GARD_16768 Tritanopia skos:exactMatch Orphanet:88629 semapv:UnspecifiedMatching +obo:GARD_16768 Tritanopia skos:narrowMatch OMIM:190900 semapv:UnspecifiedMatching +obo:GARD_16769 Terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch Orphanet:88630 semapv:UnspecifiedMatching +obo:GARD_16769 Terminal osseous dysplasia-pigmentary defects syndrome skos:narrowMatch OMIM:300244 semapv:UnspecifiedMatching +obo:GARD_16770 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates skos:exactMatch Orphanet:88635 semapv:UnspecifiedMatching +obo:GARD_16770 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates skos:narrowMatch OMIM:616231 semapv:UnspecifiedMatching +obo:GARD_16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:exactMatch Orphanet:88637 semapv:UnspecifiedMatching +obo:GARD_16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +obo:GARD_16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:narrowMatch OMIM:614381 semapv:UnspecifiedMatching +obo:GARD_16771 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:narrowMatch OMIM:616494 semapv:UnspecifiedMatching +obo:GARD_16772 Autosomal dominant progressive nephropathy with hypertension skos:exactMatch Orphanet:88659 semapv:UnspecifiedMatching +obo:GARD_16772 Autosomal dominant progressive nephropathy with hypertension skos:narrowMatch OMIM:161900 semapv:UnspecifiedMatching +obo:GARD_16773 Hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching +obo:GARD_16773 Hepatocellular carcinoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +obo:GARD_16774 X-linked Alport syndrome skos:exactMatch Orphanet:88917 semapv:UnspecifiedMatching +obo:GARD_16774 X-linked Alport syndrome skos:narrowMatch OMIM:301050 semapv:UnspecifiedMatching +obo:GARD_16775 Pseudohypoaldosteronism type 2A skos:exactMatch Orphanet:88938 semapv:UnspecifiedMatching +obo:GARD_16775 Pseudohypoaldosteronism type 2A skos:narrowMatch OMIM:145260 semapv:UnspecifiedMatching +obo:GARD_16776 Pseudohypoaldosteronism type 2B skos:exactMatch Orphanet:88939 semapv:UnspecifiedMatching +obo:GARD_16776 Pseudohypoaldosteronism type 2B skos:narrowMatch OMIM:614491 semapv:UnspecifiedMatching +obo:GARD_16777 Pseudohypoaldosteronism type 2C skos:exactMatch Orphanet:88940 semapv:UnspecifiedMatching +obo:GARD_16777 Pseudohypoaldosteronism type 2C skos:narrowMatch OMIM:614492 semapv:UnspecifiedMatching +obo:GARD_16778 Autosomal recessive generalized epidermolysis bullosa simplex skos:exactMatch Orphanet:89838 semapv:UnspecifiedMatching +obo:GARD_16778 Autosomal recessive generalized epidermolysis bullosa simplex skos:narrowMatch OMIM:601001 semapv:UnspecifiedMatching +obo:GARD_16779 Dystrophic epidermolysis bullosa pruriginosa skos:exactMatch Orphanet:89843 semapv:UnspecifiedMatching +obo:GARD_16779 Dystrophic epidermolysis bullosa pruriginosa skos:narrowMatch OMIM:604129 semapv:UnspecifiedMatching +obo:GARD_16780 Lissencephaly syndrome, Norman-Roberts type skos:exactMatch Orphanet:89844 semapv:UnspecifiedMatching +obo:GARD_16780 Lissencephaly syndrome, Norman-Roberts type skos:narrowMatch OMIM:257320 semapv:UnspecifiedMatching +obo:GARD_16781 Autosomal dominant hypophosphatemic rickets skos:exactMatch Orphanet:89937 semapv:UnspecifiedMatching +obo:GARD_16781 Autosomal dominant hypophosphatemic rickets skos:narrowMatch OMIM:193100 semapv:UnspecifiedMatching +obo:GARD_16782 X-linked cone dysfunction syndrome with myopia skos:exactMatch Orphanet:90001 semapv:UnspecifiedMatching +obo:GARD_16782 X-linked cone dysfunction syndrome with myopia skos:narrowMatch OMIM:300843 semapv:UnspecifiedMatching +obo:GARD_16783 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:exactMatch Orphanet:90023 semapv:UnspecifiedMatching +obo:GARD_16783 Primary immunodeficiency syndrome due to LAMTOR2 deficiency skos:narrowMatch OMIM:610798 semapv:UnspecifiedMatching +obo:GARD_16784 Hemolytic anemia due to glutathione reductase deficiency skos:exactMatch Orphanet:90030 semapv:UnspecifiedMatching +obo:GARD_16784 Hemolytic anemia due to glutathione reductase deficiency skos:narrowMatch OMIM:618660 semapv:UnspecifiedMatching +obo:GARD_16784 Hemolytic anemia due to glutathione reductase deficiency skos:narrowMatch OMIM:618667 semapv:UnspecifiedMatching +obo:GARD_16785 Familial pseudohyperkalemia skos:exactMatch Orphanet:90044 semapv:UnspecifiedMatching +obo:GARD_16785 Familial pseudohyperkalemia skos:narrowMatch OMIM:609153 semapv:UnspecifiedMatching +obo:GARD_16786 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome skos:exactMatch Orphanet:90103 semapv:UnspecifiedMatching +obo:GARD_16786 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome skos:narrowMatch OMIM:214370 semapv:UnspecifiedMatching +obo:GARD_16787 Hereditary motor and sensory neuropathy type 6 skos:exactMatch Orphanet:90120 semapv:UnspecifiedMatching +obo:GARD_16787 Hereditary motor and sensory neuropathy type 6 skos:narrowMatch OMIM:601152 semapv:UnspecifiedMatching +obo:GARD_16787 Hereditary motor and sensory neuropathy type 6 skos:narrowMatch OMIM:616505 semapv:UnspecifiedMatching +obo:GARD_16788 Klippel-Trénaunay syndrome skos:exactMatch Orphanet:90308 semapv:UnspecifiedMatching +obo:GARD_16788 Klippel-Trénaunay syndrome skos:narrowMatch OMIM:149000 semapv:UnspecifiedMatching +obo:GARD_16789 Hypotrichosis simplex of the scalp skos:exactMatch Orphanet:90368 semapv:UnspecifiedMatching +obo:GARD_16789 Hypotrichosis simplex of the scalp skos:narrowMatch OMIM:146520 semapv:UnspecifiedMatching +obo:GARD_16789 Hypotrichosis simplex of the scalp skos:narrowMatch OMIM:613981 semapv:UnspecifiedMatching +obo:GARD_16790 X-linked non-syndromic sensorineural deafness type DFN skos:exactMatch Orphanet:90625 semapv:UnspecifiedMatching +obo:GARD_16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:300030 semapv:UnspecifiedMatching +obo:GARD_16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:300066 semapv:UnspecifiedMatching +obo:GARD_16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:300914 semapv:UnspecifiedMatching +obo:GARD_16790 X-linked non-syndromic sensorineural deafness type DFN skos:narrowMatch OMIM:304500 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600101 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600652 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600965 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:600994 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601316 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601317 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601369 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601412 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601543 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601544 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:601868 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:602459 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:603622 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:603964 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:604717 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:605192 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:605583 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606012 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606282 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606346 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606451 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:606705 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607017 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607197 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607453 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607683 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:607841 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608224 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608372 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608394 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608641 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608645 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:608652 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:609129 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:609965 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612431 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612642 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612643 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:612644 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:613074 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:613558 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:614152 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:614211 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:614614 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:615629 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:615649 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:615654 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616044 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616340 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616357 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616697 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616707 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616968 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:616969 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:617605 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:617606 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:617663 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618094 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618140 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618410 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618778 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618787 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:618915 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:619081 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:619086 semapv:UnspecifiedMatching +obo:GARD_16791 Autosomal dominant non-syndromic sensorineural deafness type DFNA skos:narrowMatch OMIM:619274 semapv:UnspecifiedMatching +obo:GARD_16792 Mitochondrial non-syndromic sensorineural deafness skos:exactMatch Orphanet:90641 semapv:UnspecifiedMatching +obo:GARD_16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:221745 semapv:UnspecifiedMatching +obo:GARD_16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:304400 semapv:UnspecifiedMatching +obo:GARD_16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:500008 semapv:UnspecifiedMatching +obo:GARD_16792 Mitochondrial non-syndromic sensorineural deafness skos:narrowMatch OMIM:580000 semapv:UnspecifiedMatching +obo:GARD_16793 Hypothyroidism due to TSH receptor mutations skos:exactMatch Orphanet:90673 semapv:UnspecifiedMatching +obo:GARD_16793 Hypothyroidism due to TSH receptor mutations skos:narrowMatch OMIM:275200 semapv:UnspecifiedMatching +obo:GARD_16794 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:exactMatch Orphanet:90796 semapv:UnspecifiedMatching +obo:GARD_16794 46,XY disorder of sex development due to isolated 17,20-lyase deficiency skos:narrowMatch OMIM:202110 semapv:UnspecifiedMatching +obo:GARD_16795 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch Orphanet:91130 semapv:UnspecifiedMatching +obo:GARD_16795 Cardiomyopathy-hypotonia-lactic acidosis syndrome skos:narrowMatch OMIM:610773 semapv:UnspecifiedMatching +obo:GARD_16796 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch Orphanet:91135 semapv:UnspecifiedMatching +obo:GARD_16796 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:narrowMatch OMIM:610842 semapv:UnspecifiedMatching +obo:GARD_16797 Isolated cryptophthalmia skos:exactMatch Orphanet:91396 semapv:UnspecifiedMatching +obo:GARD_16797 Isolated cryptophthalmia skos:narrowMatch OMIM:123570 semapv:UnspecifiedMatching +obo:GARD_16798 Congenital ptosis skos:exactMatch Orphanet:91411 semapv:UnspecifiedMatching +obo:GARD_16798 Congenital ptosis skos:narrowMatch OMIM:178300 semapv:UnspecifiedMatching +obo:GARD_16798 Congenital ptosis skos:narrowMatch OMIM:300245 semapv:UnspecifiedMatching +obo:GARD_16798 Congenital ptosis skos:narrowMatch OMIM:616219 semapv:UnspecifiedMatching +obo:GARD_16799 Isolated congenital alacrima skos:exactMatch Orphanet:91416 semapv:UnspecifiedMatching +obo:GARD_16799 Isolated congenital alacrima skos:narrowMatch OMIM:103420 semapv:UnspecifiedMatching +obo:GARD_16799 Isolated congenital alacrima skos:narrowMatch OMIM:601549 semapv:UnspecifiedMatching +obo:GARD_1680 Symbrachydactyly of hands and feet skos:exactMatch Orphanet:1570 semapv:UnspecifiedMatching +obo:GARD_16800 Isolated congenital sclerocornea skos:exactMatch Orphanet:91490 semapv:UnspecifiedMatching +obo:GARD_16800 Isolated congenital sclerocornea skos:narrowMatch OMIM:181700 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115650 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115660 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115665 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115700 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115800 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:115900 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116100 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116200 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116300 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116600 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116700 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:116800 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:212500 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:302200 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601202 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601547 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:601885 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:604219 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:604307 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605387 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:605749 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:609741 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610202 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610425 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:610623 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611391 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611544 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:611597 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:614422 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:614691 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615188 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615274 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:615277 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616279 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616509 semapv:UnspecifiedMatching +obo:GARD_16801 Early-onset non-syndromic cataract skos:narrowMatch OMIM:616851 semapv:UnspecifiedMatching +obo:GARD_16802 Macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch Orphanet:91494 semapv:UnspecifiedMatching +obo:GARD_16802 Macular coloboma-cleft palate-hallux valgus syndrome skos:narrowMatch OMIM:216800 semapv:UnspecifiedMatching +obo:GARD_16803 Persistent hyperplastic primary vitreous skos:exactMatch Orphanet:91495 semapv:UnspecifiedMatching +obo:GARD_16803 Persistent hyperplastic primary vitreous skos:narrowMatch OMIM:221900 semapv:UnspecifiedMatching +obo:GARD_16803 Persistent hyperplastic primary vitreous skos:narrowMatch OMIM:611308 semapv:UnspecifiedMatching +obo:GARD_16804 Renal agenesis, unilateral skos:exactMatch Orphanet:93100 semapv:UnspecifiedMatching +obo:GARD_16804 Renal agenesis, unilateral skos:narrowMatch OMIM:617805 semapv:UnspecifiedMatching +obo:GARD_16805 Hypocalcemic vitamin D-resistant rickets skos:exactMatch Orphanet:93160 semapv:UnspecifiedMatching +obo:GARD_16805 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:277440 semapv:UnspecifiedMatching +obo:GARD_16805 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:600785 semapv:UnspecifiedMatching +obo:GARD_16805 Hypocalcemic vitamin D-resistant rickets skos:narrowMatch OMIM:619073 semapv:UnspecifiedMatching +obo:GARD_16806 Fragile X-associated tremor/ataxia syndrome skos:exactMatch Orphanet:93256 semapv:UnspecifiedMatching +obo:GARD_16806 Fragile X-associated tremor/ataxia syndrome skos:narrowMatch OMIM:300623 semapv:UnspecifiedMatching +obo:GARD_16807 Pfeiffer syndrome type 1 skos:exactMatch Orphanet:93258 semapv:UnspecifiedMatching +obo:GARD_16807 Pfeiffer syndrome type 1 skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +obo:GARD_16808 Pfeiffer syndrome type 2 skos:exactMatch Orphanet:93259 semapv:UnspecifiedMatching +obo:GARD_16808 Pfeiffer syndrome type 2 skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +obo:GARD_16809 Pfeiffer syndrome type 3 skos:exactMatch Orphanet:93260 semapv:UnspecifiedMatching +obo:GARD_16809 Pfeiffer syndrome type 3 skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +obo:GARD_16810 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch Orphanet:93262 semapv:UnspecifiedMatching +obo:GARD_16810 Crouzon syndrome-acanthosis nigricans syndrome skos:narrowMatch OMIM:612247 semapv:UnspecifiedMatching +obo:GARD_16811 Cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch Orphanet:93267 semapv:UnspecifiedMatching +obo:GARD_16811 Cloverleaf skull-multiple congenital anomalies syndrome skos:narrowMatch OMIM:607161 semapv:UnspecifiedMatching +obo:GARD_16812 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch Orphanet:93279 semapv:UnspecifiedMatching +obo:GARD_16812 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:narrowMatch OMIM:604864 semapv:UnspecifiedMatching +obo:GARD_16813 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch Orphanet:93282 semapv:UnspecifiedMatching +obo:GARD_16813 Spondyloepimetaphyseal dysplasia, PAPSS2 type skos:narrowMatch OMIM:612847 semapv:UnspecifiedMatching +obo:GARD_16814 Spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch Orphanet:93283 semapv:UnspecifiedMatching +obo:GARD_16814 Spondyloepiphyseal dysplasia, Kimberley type skos:narrowMatch OMIM:608361 semapv:UnspecifiedMatching +obo:GARD_16815 Hypochondrogenesis skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching +obo:GARD_16815 Hypochondrogenesis skos:narrowMatch OMIM:200610 semapv:UnspecifiedMatching +obo:GARD_16816 Brachyolmia, Maroteaux type skos:exactMatch Orphanet:93302 semapv:UnspecifiedMatching +obo:GARD_16816 Brachyolmia, Maroteaux type skos:narrowMatch OMIM:613678 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:exactMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:174200 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:263450 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:602085 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:607324 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:608562 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:615226 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:618219 semapv:UnspecifiedMatching +obo:GARD_16817 Postaxial polydactyly type A skos:narrowMatch OMIM:618498 semapv:UnspecifiedMatching +obo:GARD_16818 Postaxial polydactyly type B skos:exactMatch Orphanet:93335 semapv:UnspecifiedMatching +obo:GARD_16818 Postaxial polydactyly type B skos:narrowMatch OMIM:174200 semapv:UnspecifiedMatching +obo:GARD_16819 Spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch Orphanet:93351 semapv:UnspecifiedMatching +obo:GARD_16819 Spondyloepimetaphyseal dysplasia, Irapa type skos:narrowMatch OMIM:271650 semapv:UnspecifiedMatching +obo:GARD_16820 Genochondromatosis type 2 skos:exactMatch Orphanet:93398 semapv:UnspecifiedMatching +obo:GARD_16820 Genochondromatosis type 2 skos:narrowMatch OMIM:137360 semapv:UnspecifiedMatching +obo:GARD_16821 Brachydactyly-syndactyly, Zhao type skos:exactMatch Orphanet:93409 semapv:UnspecifiedMatching +obo:GARD_16821 Brachydactyly-syndactyly, Zhao type skos:narrowMatch OMIM:610713 semapv:UnspecifiedMatching +obo:GARD_16822 Ciliopathies with major skeletal involvement skos:exactMatch Orphanet:93426 semapv:UnspecifiedMatching +obo:GARD_16822 Ciliopathies with major skeletal involvement skos:narrowMatch OMIM:617405 semapv:UnspecifiedMatching +obo:GARD_16823 Atypical hemolytic uremic syndrome with anti-factor H antibodies skos:exactMatch Orphanet:93581 semapv:UnspecifiedMatching +obo:GARD_16823 Atypical hemolytic uremic syndrome with anti-factor H antibodies skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +obo:GARD_16824 Late-onset nephronophthisis skos:exactMatch Orphanet:93589 semapv:UnspecifiedMatching +obo:GARD_16824 Late-onset nephronophthisis skos:narrowMatch OMIM:604387 semapv:UnspecifiedMatching +obo:GARD_16824 Late-onset nephronophthisis skos:narrowMatch OMIM:613159 semapv:UnspecifiedMatching +obo:GARD_16824 Late-onset nephronophthisis skos:narrowMatch OMIM:617271 semapv:UnspecifiedMatching +obo:GARD_16825 Infantile nephronophthisis skos:exactMatch Orphanet:93591 semapv:UnspecifiedMatching +obo:GARD_16825 Infantile nephronophthisis skos:narrowMatch OMIM:602088 semapv:UnspecifiedMatching +obo:GARD_16825 Infantile nephronophthisis skos:narrowMatch OMIM:615382 semapv:UnspecifiedMatching +obo:GARD_16826 Autosomal recessive proximal renal tubular acidosis skos:exactMatch Orphanet:93607 semapv:UnspecifiedMatching +obo:GARD_16826 Autosomal recessive proximal renal tubular acidosis skos:narrowMatch OMIM:604278 semapv:UnspecifiedMatching +obo:GARD_16827 Cystinuria type A skos:exactMatch Orphanet:93612 semapv:UnspecifiedMatching +obo:GARD_16827 Cystinuria type A skos:narrowMatch OMIM:220100 semapv:UnspecifiedMatching +obo:GARD_16828 Cystinuria type B skos:exactMatch Orphanet:93613 semapv:UnspecifiedMatching +obo:GARD_16828 Cystinuria type B skos:narrowMatch OMIM:220100 semapv:UnspecifiedMatching +obo:GARD_16829 Hemoglobin H disease skos:exactMatch Orphanet:93616 semapv:UnspecifiedMatching +obo:GARD_16829 Hemoglobin H disease skos:narrowMatch OMIM:613978 semapv:UnspecifiedMatching +obo:GARD_16830 Lobar holoprosencephaly skos:exactMatch Orphanet:93924 semapv:UnspecifiedMatching +obo:GARD_16830 Lobar holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_16830 Lobar holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_16830 Lobar holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_16831 Alobar holoprosencephaly skos:exactMatch Orphanet:93925 semapv:UnspecifiedMatching +obo:GARD_16831 Alobar holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_16831 Alobar holoprosencephaly skos:narrowMatch OMIM:301043 semapv:UnspecifiedMatching +obo:GARD_16831 Alobar holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_16831 Alobar holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_16832 Midline interhemispheric variant of holoprosencephaly skos:exactMatch Orphanet:93926 semapv:UnspecifiedMatching +obo:GARD_16832 Midline interhemispheric variant of holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_16832 Midline interhemispheric variant of holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_16832 Midline interhemispheric variant of holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_16833 Laryngotracheoesophageal cleft type 3 skos:exactMatch Orphanet:93940 semapv:UnspecifiedMatching +obo:GARD_16833 Laryngotracheoesophageal cleft type 3 skos:narrowMatch OMIM:215800 semapv:UnspecifiedMatching +obo:GARD_16834 X-linked intellectual disability, Hedera type skos:exactMatch Orphanet:93952 semapv:UnspecifiedMatching +obo:GARD_16834 X-linked intellectual disability, Hedera type skos:narrowMatch OMIM:300423 semapv:UnspecifiedMatching +obo:GARD_16835 Anotia skos:exactMatch Orphanet:93976 semapv:UnspecifiedMatching +obo:GARD_16835 Anotia skos:narrowMatch OMIM:600674 semapv:UnspecifiedMatching +obo:GARD_16836 Cerebellar ataxia, Cayman type skos:exactMatch Orphanet:94122 semapv:UnspecifiedMatching +obo:GARD_16836 Cerebellar ataxia, Cayman type skos:narrowMatch OMIM:601238 semapv:UnspecifiedMatching +obo:GARD_16837 Anonychia congenita totalis skos:exactMatch Orphanet:94150 semapv:UnspecifiedMatching +obo:GARD_16837 Anonychia congenita totalis skos:narrowMatch OMIM:206800 semapv:UnspecifiedMatching +obo:GARD_16838 Lissencephaly due to LIS1 mutation skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching +obo:GARD_16838 Lissencephaly due to LIS1 mutation skos:narrowMatch OMIM:607432 semapv:UnspecifiedMatching +obo:GARD_16839 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch Orphanet:95700 semapv:UnspecifiedMatching +obo:GARD_16839 Familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:narrowMatch OMIM:202150 semapv:UnspecifiedMatching +obo:GARD_1684 Deafness-ear malformation-facial palsy syndrome skos:exactMatch Orphanet:3232 semapv:UnspecifiedMatching +obo:GARD_1684 Deafness-ear malformation-facial palsy syndrome skos:narrowMatch OMIM:124490 semapv:UnspecifiedMatching +obo:GARD_16840 Non-syndromic posterior hypospadias skos:exactMatch Orphanet:95706 semapv:UnspecifiedMatching +obo:GARD_16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:146450 semapv:UnspecifiedMatching +obo:GARD_16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:300633 semapv:UnspecifiedMatching +obo:GARD_16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:300758 semapv:UnspecifiedMatching +obo:GARD_16840 Non-syndromic posterior hypospadias skos:narrowMatch OMIM:300856 semapv:UnspecifiedMatching +obo:GARD_16841 Thyroid ectopia skos:exactMatch Orphanet:95712 semapv:UnspecifiedMatching +obo:GARD_16841 Thyroid ectopia skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +obo:GARD_16841 Thyroid ectopia skos:narrowMatch OMIM:225250 semapv:UnspecifiedMatching +obo:GARD_16842 Athyreosis skos:exactMatch Orphanet:95713 semapv:UnspecifiedMatching +obo:GARD_16842 Athyreosis skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +obo:GARD_16842 Athyreosis skos:narrowMatch OMIM:225250 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:exactMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274400 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274500 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274700 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274800 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:274900 semapv:UnspecifiedMatching +obo:GARD_16843 Familial thyroid dyshormonogenesis skos:narrowMatch OMIM:607200 semapv:UnspecifiedMatching +obo:GARD_16844 Thyroid hemiagenesis skos:exactMatch Orphanet:95719 semapv:UnspecifiedMatching +obo:GARD_16844 Thyroid hemiagenesis skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +obo:GARD_16845 Distal monosomy 6p skos:exactMatch Orphanet:96125 semapv:UnspecifiedMatching +obo:GARD_16845 Distal monosomy 6p skos:narrowMatch OMIM:612582 semapv:UnspecifiedMatching +obo:GARD_16846 Kleefstra syndrome due to 9q34 microdeletion skos:exactMatch Orphanet:96147 semapv:UnspecifiedMatching +obo:GARD_16846 Kleefstra syndrome due to 9q34 microdeletion skos:narrowMatch OMIM:610253 semapv:UnspecifiedMatching +obo:GARD_16847 Monosomy 13q34 skos:exactMatch Orphanet:96168 semapv:UnspecifiedMatching +obo:GARD_16847 Monosomy 13q34 skos:narrowMatch OMIM:619148 semapv:UnspecifiedMatching +obo:GARD_16848 Temple syndrome due to maternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching +obo:GARD_16848 Temple syndrome due to maternal uniparental disomy of chromosome 14 skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +obo:GARD_16849 Maternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96186 semapv:UnspecifiedMatching +obo:GARD_16849 Maternal uniparental disomy of chromosome 20 skos:narrowMatch OMIM:617352 semapv:UnspecifiedMatching +obo:GARD_1685 DOORS syndrome skos:exactMatch Orphanet:79500 semapv:UnspecifiedMatching +obo:GARD_1685 DOORS syndrome skos:narrowMatch OMIM:220500 semapv:UnspecifiedMatching +obo:GARD_16850 Somatotropic adenoma skos:exactMatch Orphanet:96256 semapv:UnspecifiedMatching +obo:GARD_16850 Somatotropic adenoma skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +obo:GARD_16851 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch Orphanet:96265 semapv:UnspecifiedMatching +obo:GARD_16851 Leydig cell hypoplasia due to complete LH resistance skos:narrowMatch OMIM:238320 semapv:UnspecifiedMatching +obo:GARD_16852 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch Orphanet:96266 semapv:UnspecifiedMatching +obo:GARD_16852 Leydig cell hypoplasia due to partial LH resistance skos:narrowMatch OMIM:238320 semapv:UnspecifiedMatching +obo:GARD_16853 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch Orphanet:97290 semapv:UnspecifiedMatching +obo:GARD_16853 Familial papillary thyroid carcinoma with renal papillary neoplasia skos:narrowMatch OMIM:605642 semapv:UnspecifiedMatching +obo:GARD_16854 Renal tubular dysgenesis of genetic origin skos:exactMatch Orphanet:97369 semapv:UnspecifiedMatching +obo:GARD_16854 Renal tubular dysgenesis of genetic origin skos:narrowMatch OMIM:267430 semapv:UnspecifiedMatching +obo:GARD_16855 Lymphoproliferative disease associated with primary immune disease skos:exactMatch Orphanet:98291 semapv:UnspecifiedMatching +obo:GARD_16855 Lymphoproliferative disease associated with primary immune disease skos:narrowMatch OMIM:619126 semapv:UnspecifiedMatching +obo:GARD_16856 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:exactMatch Orphanet:98434 semapv:UnspecifiedMatching +obo:GARD_16856 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:narrowMatch OMIM:277450 semapv:UnspecifiedMatching +obo:GARD_16856 Hereditary combined deficiency of vitamin K-dependent clotting factors skos:narrowMatch OMIM:607473 semapv:UnspecifiedMatching +obo:GARD_16857 Developmental defect of the eye skos:exactMatch Orphanet:98553 semapv:UnspecifiedMatching +obo:GARD_16857 Developmental defect of the eye skos:narrowMatch OMIM:120200 semapv:UnspecifiedMatching +obo:GARD_16857 Developmental defect of the eye skos:narrowMatch OMIM:216820 semapv:UnspecifiedMatching +obo:GARD_16858 Syndromic orbital border hypoplasia skos:exactMatch Orphanet:98606 semapv:UnspecifiedMatching +obo:GARD_16858 Syndromic orbital border hypoplasia skos:narrowMatch OMIM:165600 semapv:UnspecifiedMatching +obo:GARD_16859 Rare isolated myopia skos:exactMatch Orphanet:98619 semapv:UnspecifiedMatching +obo:GARD_16859 Rare isolated myopia skos:narrowMatch OMIM:608908 semapv:UnspecifiedMatching +obo:GARD_16859 Rare isolated myopia skos:narrowMatch OMIM:614292 semapv:UnspecifiedMatching +obo:GARD_16859 Rare isolated myopia skos:narrowMatch OMIM:615431 semapv:UnspecifiedMatching +obo:GARD_1686 Deafness-craniofacial syndrome skos:exactMatch Orphanet:3241 semapv:UnspecifiedMatching +obo:GARD_1686 Deafness-craniofacial syndrome skos:narrowMatch OMIM:125230 semapv:UnspecifiedMatching +obo:GARD_16860 Autosomal recessive isolated optic atrophy skos:exactMatch Orphanet:98676 semapv:UnspecifiedMatching +obo:GARD_16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:258500 semapv:UnspecifiedMatching +obo:GARD_16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:616289 semapv:UnspecifiedMatching +obo:GARD_16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:616732 semapv:UnspecifiedMatching +obo:GARD_16860 Autosomal recessive isolated optic atrophy skos:narrowMatch OMIM:617302 semapv:UnspecifiedMatching +obo:GARD_16861 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98754 semapv:UnspecifiedMatching +obo:GARD_16861 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +obo:GARD_16862 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 skos:exactMatch Orphanet:98791 semapv:UnspecifiedMatching +obo:GARD_16862 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 skos:narrowMatch OMIM:141750 semapv:UnspecifiedMatching +obo:GARD_16863 Acute undifferentiated leukemia skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching +obo:GARD_16863 Acute undifferentiated leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_16864 Desquamative interstitial pneumonia skos:exactMatch Orphanet:98852 semapv:UnspecifiedMatching +obo:GARD_16864 Desquamative interstitial pneumonia skos:narrowMatch OMIM:263000 semapv:UnspecifiedMatching +obo:GARD_16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98853 semapv:UnspecifiedMatching +obo:GARD_16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:181350 semapv:UnspecifiedMatching +obo:GARD_16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612998 semapv:UnspecifiedMatching +obo:GARD_16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612999 semapv:UnspecifiedMatching +obo:GARD_16865 Autosomal dominant Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:614302 semapv:UnspecifiedMatching +obo:GARD_16866 Autosomal recessive Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching +obo:GARD_16866 Autosomal recessive Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:616516 semapv:UnspecifiedMatching +obo:GARD_16867 Southeast Asian ovalocytosis skos:exactMatch Orphanet:98868 semapv:UnspecifiedMatching +obo:GARD_16867 Southeast Asian ovalocytosis skos:narrowMatch OMIM:166900 semapv:UnspecifiedMatching +obo:GARD_16868 Bleeding diathesis due to integrin alpha2-beta1 deficiency skos:exactMatch Orphanet:98886 semapv:UnspecifiedMatching +obo:GARD_16868 Bleeding diathesis due to integrin alpha2-beta1 deficiency skos:narrowMatch OMIM:614200 semapv:UnspecifiedMatching +obo:GARD_16869 Congenital myopathy with excess of thin filaments skos:exactMatch Orphanet:98904 semapv:UnspecifiedMatching +obo:GARD_16869 Congenital myopathy with excess of thin filaments skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +obo:GARD_1687 Deafness-enamel hypoplasia-nail defects syndrome skos:exactMatch Orphanet:3220 semapv:UnspecifiedMatching +obo:GARD_1687 Deafness-enamel hypoplasia-nail defects syndrome skos:narrowMatch OMIM:234580 semapv:UnspecifiedMatching +obo:GARD_1687 Deafness-enamel hypoplasia-nail defects syndrome skos:narrowMatch OMIM:616617 semapv:UnspecifiedMatching +obo:GARD_16870 Desminopathy skos:exactMatch Orphanet:98909 semapv:UnspecifiedMatching +obo:GARD_16870 Desminopathy skos:narrowMatch OMIM:601419 semapv:UnspecifiedMatching +obo:GARD_16871 Distal myotilinopathy skos:exactMatch Orphanet:98911 semapv:UnspecifiedMatching +obo:GARD_16871 Distal myotilinopathy skos:narrowMatch OMIM:609200 semapv:UnspecifiedMatching +obo:GARD_16872 Synaptic congenital myasthenic syndromes skos:exactMatch Orphanet:98915 semapv:UnspecifiedMatching +obo:GARD_16872 Synaptic congenital myasthenic syndromes skos:narrowMatch OMIM:603034 semapv:UnspecifiedMatching +obo:GARD_16873 Acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:98916 semapv:UnspecifiedMatching +obo:GARD_16873 Acute inflammatory demyelinating polyradiculoneuropathy skos:narrowMatch OMIM:139393 semapv:UnspecifiedMatching +obo:GARD_16874 Huntington disease-like 2 skos:exactMatch Orphanet:98934 semapv:UnspecifiedMatching +obo:GARD_16874 Huntington disease-like 2 skos:narrowMatch OMIM:606438 semapv:UnspecifiedMatching +obo:GARD_16875 Coloboma of choroid and retina skos:exactMatch Orphanet:98942 semapv:UnspecifiedMatching +obo:GARD_16875 Coloboma of choroid and retina skos:narrowMatch OMIM:120200 semapv:UnspecifiedMatching +obo:GARD_16876 Complete cryptophthalmia skos:exactMatch Orphanet:98949 semapv:UnspecifiedMatching +obo:GARD_16876 Complete cryptophthalmia skos:narrowMatch OMIM:123570 semapv:UnspecifiedMatching +obo:GARD_16877 Lisch epithelial corneal dystrophy skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching +obo:GARD_16877 Lisch epithelial corneal dystrophy skos:narrowMatch OMIM:300778 semapv:UnspecifiedMatching +obo:GARD_16878 Subepithelial mucinous corneal dystrophy skos:exactMatch Orphanet:98959 semapv:UnspecifiedMatching +obo:GARD_16878 Subepithelial mucinous corneal dystrophy skos:narrowMatch OMIM:612867 semapv:UnspecifiedMatching +obo:GARD_16879 Fleck corneal dystrophy skos:exactMatch Orphanet:98970 semapv:UnspecifiedMatching +obo:GARD_16879 Fleck corneal dystrophy skos:narrowMatch OMIM:121850 semapv:UnspecifiedMatching +obo:GARD_1688 Deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch Orphanet:3218 semapv:UnspecifiedMatching +obo:GARD_1688 Deafness-epiphyseal dysplasia-short stature syndrome skos:narrowMatch OMIM:601351 semapv:UnspecifiedMatching +obo:GARD_16880 Posterior amorphous corneal dystrophy skos:exactMatch Orphanet:98971 semapv:UnspecifiedMatching +obo:GARD_16880 Posterior amorphous corneal dystrophy skos:narrowMatch OMIM:612868 semapv:UnspecifiedMatching +obo:GARD_16881 Central cloudy dystrophy of François skos:exactMatch Orphanet:98972 semapv:UnspecifiedMatching +obo:GARD_16881 Central cloudy dystrophy of François skos:narrowMatch OMIM:217600 semapv:UnspecifiedMatching +obo:GARD_16882 Posterior polymorphous corneal dystrophy skos:exactMatch Orphanet:98973 semapv:UnspecifiedMatching +obo:GARD_16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:122000 semapv:UnspecifiedMatching +obo:GARD_16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:609140 semapv:UnspecifiedMatching +obo:GARD_16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:609141 semapv:UnspecifiedMatching +obo:GARD_16882 Posterior polymorphous corneal dystrophy skos:narrowMatch OMIM:618031 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:exactMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:narrowMatch OMIM:137750 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:narrowMatch OMIM:231300 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:narrowMatch OMIM:608695 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:narrowMatch OMIM:608696 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:narrowMatch OMIM:610535 semapv:UnspecifiedMatching +obo:GARD_16883 Juvenile glaucoma skos:narrowMatch OMIM:611274 semapv:UnspecifiedMatching +obo:GARD_16884 Pulverulent cataract skos:exactMatch Orphanet:98984 semapv:UnspecifiedMatching +obo:GARD_16884 Pulverulent cataract skos:narrowMatch OMIM:116300 semapv:UnspecifiedMatching +obo:GARD_16885 Early-onset sutural cataract skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching +obo:GARD_16885 Early-onset sutural cataract skos:narrowMatch OMIM:116100 semapv:UnspecifiedMatching +obo:GARD_16885 Early-onset sutural cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +obo:GARD_16885 Early-onset sutural cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +obo:GARD_16886 Coralliform cataract skos:exactMatch Orphanet:98990 semapv:UnspecifiedMatching +obo:GARD_16886 Coralliform cataract skos:narrowMatch OMIM:115800 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +obo:GARD_16887 Early-onset nuclear cataract skos:narrowMatch OMIM:611391 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:exactMatch Orphanet:98992 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:115660 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:115800 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:116300 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:601202 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +obo:GARD_16888 Early-onset partial cataract skos:narrowMatch OMIM:614422 semapv:UnspecifiedMatching +obo:GARD_16889 Early-onset posterior polar cataract skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching +obo:GARD_16889 Early-onset posterior polar cataract skos:narrowMatch OMIM:600881 semapv:UnspecifiedMatching +obo:GARD_16889 Early-onset posterior polar cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +obo:GARD_16890 Butterfly-shaped pigment dystrophy skos:exactMatch Orphanet:99001 semapv:UnspecifiedMatching +obo:GARD_16890 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:169150 semapv:UnspecifiedMatching +obo:GARD_16890 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:608970 semapv:UnspecifiedMatching +obo:GARD_16890 Butterfly-shaped pigment dystrophy skos:narrowMatch OMIM:610125 semapv:UnspecifiedMatching +obo:GARD_16891 Reticular dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:99002 semapv:UnspecifiedMatching +obo:GARD_16891 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:179840 semapv:UnspecifiedMatching +obo:GARD_16891 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:267800 semapv:UnspecifiedMatching +obo:GARD_16891 Reticular dystrophy of the retinal pigment epithelium skos:narrowMatch OMIM:617175 semapv:UnspecifiedMatching +obo:GARD_16892 Discrete fixed membranous subaortic stenosis skos:exactMatch Orphanet:99051 semapv:UnspecifiedMatching +obo:GARD_16892 Discrete fixed membranous subaortic stenosis skos:narrowMatch OMIM:271950 semapv:UnspecifiedMatching +obo:GARD_16893 Complete atrioventricular septal defect with ventricular hypoplasia skos:exactMatch Orphanet:99067 semapv:UnspecifiedMatching +obo:GARD_16893 Complete atrioventricular septal defect with ventricular hypoplasia skos:narrowMatch OMIM:615779 semapv:UnspecifiedMatching +obo:GARD_16894 Complete atrioventricular septal defect-tetralogy of Fallot skos:exactMatch Orphanet:99068 semapv:UnspecifiedMatching +obo:GARD_16894 Complete atrioventricular septal defect-tetralogy of Fallot skos:narrowMatch OMIM:615779 semapv:UnspecifiedMatching +obo:GARD_16895 Interventricular septum aneurysm skos:exactMatch Orphanet:99092 semapv:UnspecifiedMatching +obo:GARD_16895 Interventricular septum aneurysm skos:narrowMatch OMIM:105805 semapv:UnspecifiedMatching +obo:GARD_16896 Congenital total pulmonary venous return anomaly skos:exactMatch Orphanet:99125 semapv:UnspecifiedMatching +obo:GARD_16896 Congenital total pulmonary venous return anomaly skos:narrowMatch OMIM:106700 semapv:UnspecifiedMatching +obo:GARD_16897 6-phosphogluconate dehydrogenase deficiency skos:exactMatch Orphanet:99135 semapv:UnspecifiedMatching +obo:GARD_16897 6-phosphogluconate dehydrogenase deficiency skos:narrowMatch OMIM:619199 semapv:UnspecifiedMatching +obo:GARD_16898 Lymphedema-posterior choanal atresia syndrome skos:exactMatch Orphanet:99141 semapv:UnspecifiedMatching +obo:GARD_16898 Lymphedema-posterior choanal atresia syndrome skos:narrowMatch OMIM:613611 semapv:UnspecifiedMatching +obo:GARD_16899 Isolated distichiasis skos:exactMatch Orphanet:99177 semapv:UnspecifiedMatching +obo:GARD_16899 Isolated distichiasis skos:narrowMatch OMIM:126300 semapv:UnspecifiedMatching +obo:GARD_169 Schneckenbecken dysplasia skos:exactMatch Orphanet:3144 semapv:UnspecifiedMatching +obo:GARD_169 Schneckenbecken dysplasia skos:narrowMatch OMIM:269250 semapv:UnspecifiedMatching +obo:GARD_16900 Kandori fleck retina skos:exactMatch Orphanet:99179 semapv:UnspecifiedMatching +obo:GARD_16900 Kandori fleck retina skos:narrowMatch OMIM:228990 semapv:UnspecifiedMatching +obo:GARD_16901 Familial medullary thyroid carcinoma skos:exactMatch Orphanet:99361 semapv:UnspecifiedMatching +obo:GARD_16901 Familial medullary thyroid carcinoma skos:narrowMatch OMIM:155240 semapv:UnspecifiedMatching +obo:GARD_16902 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:99646 semapv:UnspecifiedMatching +obo:GARD_16902 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:614875 semapv:UnspecifiedMatching +obo:GARD_16903 Fried's tooth and nail syndrome skos:exactMatch Orphanet:99672 semapv:UnspecifiedMatching +obo:GARD_16903 Fried's tooth and nail syndrome skos:narrowMatch OMIM:602401 semapv:UnspecifiedMatching +obo:GARD_16904 Myotonia fluctuans skos:exactMatch Orphanet:99734 semapv:UnspecifiedMatching +obo:GARD_16904 Myotonia fluctuans skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +obo:GARD_16905 Myotonia permanens skos:exactMatch Orphanet:99735 semapv:UnspecifiedMatching +obo:GARD_16905 Myotonia permanens skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +obo:GARD_16906 Acetazolamide-responsive myotonia skos:exactMatch Orphanet:99736 semapv:UnspecifiedMatching +obo:GARD_16906 Acetazolamide-responsive myotonia skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +obo:GARD_16907 Cleft velum skos:exactMatch Orphanet:99772 semapv:UnspecifiedMatching +obo:GARD_16907 Cleft velum skos:narrowMatch OMIM:119570 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:exactMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:106600 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:150400 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:313500 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:604625 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:610926 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:616724 semapv:UnspecifiedMatching +obo:GARD_16908 Oligodontia skos:narrowMatch OMIM:617073 semapv:UnspecifiedMatching +obo:GARD_16909 Haddad syndrome skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching +obo:GARD_16909 Haddad syndrome skos:narrowMatch OMIM:209880 semapv:UnspecifiedMatching +obo:GARD_1691 Deafness-hypogonadism syndrome skos:exactMatch Orphanet:90646 semapv:UnspecifiedMatching +obo:GARD_1691 Deafness-hypogonadism syndrome skos:narrowMatch OMIM:304350 semapv:UnspecifiedMatching +obo:GARD_16910 Oculootodental syndrome skos:exactMatch Orphanet:99806 semapv:UnspecifiedMatching +obo:GARD_16910 Oculootodental syndrome skos:narrowMatch OMIM:166750 semapv:UnspecifiedMatching +obo:GARD_16911 PEHO-like syndrome skos:exactMatch Orphanet:99807 semapv:UnspecifiedMatching +obo:GARD_16911 PEHO-like syndrome skos:narrowMatch OMIM:260565 semapv:UnspecifiedMatching +obo:GARD_16911 PEHO-like syndrome skos:narrowMatch OMIM:617507 semapv:UnspecifiedMatching +obo:GARD_16912 Turcot syndrome with polyposis skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching +obo:GARD_16912 Turcot syndrome with polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +obo:GARD_16913 Familial gestational hyperthyroidism skos:exactMatch Orphanet:99819 semapv:UnspecifiedMatching +obo:GARD_16913 Familial gestational hyperthyroidism skos:narrowMatch OMIM:603373 semapv:UnspecifiedMatching +obo:GARD_16914 Resistance to thyrotropin-releasing hormone syndrome skos:exactMatch Orphanet:99832 semapv:UnspecifiedMatching +obo:GARD_16914 Resistance to thyrotropin-releasing hormone syndrome skos:narrowMatch OMIM:618573 semapv:UnspecifiedMatching +obo:GARD_16915 Leukocyte adhesion deficiency type III skos:exactMatch Orphanet:99844 semapv:UnspecifiedMatching +obo:GARD_16915 Leukocyte adhesion deficiency type III skos:narrowMatch OMIM:612840 semapv:UnspecifiedMatching +obo:GARD_16916 Genetic recurrent myoglobinuria skos:exactMatch Orphanet:99845 semapv:UnspecifiedMatching +obo:GARD_16916 Genetic recurrent myoglobinuria skos:narrowMatch OMIM:268200 semapv:UnspecifiedMatching +obo:GARD_16916 Genetic recurrent myoglobinuria skos:narrowMatch OMIM:550500 semapv:UnspecifiedMatching +obo:GARD_16917 Autosomal dominant myoglobinuria skos:exactMatch Orphanet:99846 semapv:UnspecifiedMatching +obo:GARD_16917 Autosomal dominant myoglobinuria skos:narrowMatch OMIM:160010 semapv:UnspecifiedMatching +obo:GARD_16918 Ovarioleukodystrophy skos:exactMatch Orphanet:99853 semapv:UnspecifiedMatching +obo:GARD_16918 Ovarioleukodystrophy skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +obo:GARD_16918 Ovarioleukodystrophy skos:narrowMatch OMIM:615889 semapv:UnspecifiedMatching +obo:GARD_16919 Cree leukoencephalopathy skos:exactMatch Orphanet:99854 semapv:UnspecifiedMatching +obo:GARD_16919 Cree leukoencephalopathy skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +obo:GARD_16920 Precursor B-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99860 semapv:UnspecifiedMatching +obo:GARD_16920 Precursor B-cell acute lymphoblastic leukemia skos:narrowMatch OMIM:615545 semapv:UnspecifiedMatching +obo:GARD_16921 Spermatocytic seminoma skos:exactMatch Orphanet:99865 semapv:UnspecifiedMatching +obo:GARD_16921 Spermatocytic seminoma skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +obo:GARD_16922 Thymoma skos:exactMatch Orphanet:99867 semapv:UnspecifiedMatching +obo:GARD_16922 Thymoma skos:narrowMatch OMIM:274230 semapv:UnspecifiedMatching +obo:GARD_16923 Familial isolated hyperparathyroidism skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching +obo:GARD_16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:145000 semapv:UnspecifiedMatching +obo:GARD_16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:600166 semapv:UnspecifiedMatching +obo:GARD_16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:610071 semapv:UnspecifiedMatching +obo:GARD_16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:617343 semapv:UnspecifiedMatching +obo:GARD_16923 Familial isolated hyperparathyroidism skos:narrowMatch OMIM:618883 semapv:UnspecifiedMatching +obo:GARD_16924 Pigeon-breeder lung disease skos:exactMatch Orphanet:99908 semapv:UnspecifiedMatching +obo:GARD_16924 Pigeon-breeder lung disease skos:narrowMatch OMIM:145300 semapv:UnspecifiedMatching +obo:GARD_16925 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching +obo:GARD_16925 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 skos:narrowMatch OMIM:609260 semapv:UnspecifiedMatching +obo:GARD_16926 Atypical teratoid rhabdoid tumor skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching +obo:GARD_16926 Atypical teratoid rhabdoid tumor skos:narrowMatch OMIM:609322 semapv:UnspecifiedMatching +obo:GARD_16927 Adenocarcinoma of the esophagus skos:exactMatch Orphanet:99976 semapv:UnspecifiedMatching +obo:GARD_16927 Adenocarcinoma of the esophagus skos:narrowMatch OMIM:614266 semapv:UnspecifiedMatching +obo:GARD_16928 Complex regional pain syndrome type 1 skos:exactMatch Orphanet:99995 semapv:UnspecifiedMatching +obo:GARD_16928 Complex regional pain syndrome type 1 skos:narrowMatch OMIM:604335 semapv:UnspecifiedMatching +obo:GARD_16929 ABeta amyloidosis, Dutch type skos:exactMatch Orphanet:100006 semapv:UnspecifiedMatching +obo:GARD_16929 ABeta amyloidosis, Dutch type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_16930 ACys amyloidosis skos:exactMatch Orphanet:100008 semapv:UnspecifiedMatching +obo:GARD_16930 ACys amyloidosis skos:narrowMatch OMIM:105150 semapv:UnspecifiedMatching +obo:GARD_16931 Hypocalcified amelogenesis imperfecta skos:exactMatch Orphanet:100032 semapv:UnspecifiedMatching +obo:GARD_16931 Hypocalcified amelogenesis imperfecta skos:narrowMatch OMIM:130900 semapv:UnspecifiedMatching +obo:GARD_16931 Hypocalcified amelogenesis imperfecta skos:narrowMatch OMIM:616221 semapv:UnspecifiedMatching +obo:GARD_16931 Hypocalcified amelogenesis imperfecta skos:narrowMatch OMIM:617607 semapv:UnspecifiedMatching +obo:GARD_16932 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch Orphanet:100034 semapv:UnspecifiedMatching +obo:GARD_16932 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:narrowMatch OMIM:104510 semapv:UnspecifiedMatching +obo:GARD_16933 Hereditary angioedema type 1 skos:exactMatch Orphanet:100050 semapv:UnspecifiedMatching +obo:GARD_16933 Hereditary angioedema type 1 skos:narrowMatch OMIM:106100 semapv:UnspecifiedMatching +obo:GARD_16934 Hereditary angioedema type 2 skos:exactMatch Orphanet:100051 semapv:UnspecifiedMatching +obo:GARD_16934 Hereditary angioedema type 2 skos:narrowMatch OMIM:106100 semapv:UnspecifiedMatching +obo:GARD_16935 F12-related hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:100054 semapv:UnspecifiedMatching +obo:GARD_16935 F12-related hereditary angioedema with normal C1Inh skos:narrowMatch OMIM:610618 semapv:UnspecifiedMatching +obo:GARD_16936 Renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch Orphanet:100057 semapv:UnspecifiedMatching +obo:GARD_16936 Renin-angiotensin-aldosterone system-blocker-induced angioedema skos:narrowMatch OMIM:300909 semapv:UnspecifiedMatching +obo:GARD_16937 Porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:100924 semapv:UnspecifiedMatching +obo:GARD_16937 Porphyria due to ALA dehydratase deficiency skos:narrowMatch OMIM:612740 semapv:UnspecifiedMatching +obo:GARD_16938 Bathing suit ichthyosis skos:exactMatch Orphanet:100976 semapv:UnspecifiedMatching +obo:GARD_16938 Bathing suit ichthyosis skos:narrowMatch OMIM:242300 semapv:UnspecifiedMatching +obo:GARD_16939 Autosomal recessive spastic paraplegia type 21 skos:exactMatch Orphanet:101001 semapv:UnspecifiedMatching +obo:GARD_16939 Autosomal recessive spastic paraplegia type 21 skos:narrowMatch OMIM:248900 semapv:UnspecifiedMatching +obo:GARD_16940 Autosomal recessive spastic paraplegia type 27 skos:exactMatch Orphanet:101007 semapv:UnspecifiedMatching +obo:GARD_16940 Autosomal recessive spastic paraplegia type 27 skos:narrowMatch OMIM:609041 semapv:UnspecifiedMatching +obo:GARD_16941 Autosomal recessive spastic paraplegia type 28 skos:exactMatch Orphanet:101008 semapv:UnspecifiedMatching +obo:GARD_16941 Autosomal recessive spastic paraplegia type 28 skos:narrowMatch OMIM:609340 semapv:UnspecifiedMatching +obo:GARD_16942 Autosomal spastic paraplegia type 30 skos:exactMatch Orphanet:101010 semapv:UnspecifiedMatching +obo:GARD_16942 Autosomal spastic paraplegia type 30 skos:narrowMatch OMIM:610357 semapv:UnspecifiedMatching +obo:GARD_16943 Congenital stromal corneal dystrophy skos:exactMatch Orphanet:101068 semapv:UnspecifiedMatching +obo:GARD_16943 Congenital stromal corneal dystrophy skos:narrowMatch OMIM:610048 semapv:UnspecifiedMatching +obo:GARD_16944 Familial isolated congenital asplenia skos:exactMatch Orphanet:101351 semapv:UnspecifiedMatching +obo:GARD_16944 Familial isolated congenital asplenia skos:narrowMatch OMIM:271400 semapv:UnspecifiedMatching +obo:GARD_16945 Congenital sodium diarrhea skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching +obo:GARD_16945 Congenital sodium diarrhea skos:narrowMatch OMIM:270420 semapv:UnspecifiedMatching +obo:GARD_16945 Congenital sodium diarrhea skos:narrowMatch OMIM:616868 semapv:UnspecifiedMatching +obo:GARD_16946 Tropical pancreatitis skos:exactMatch Orphanet:103918 semapv:UnspecifiedMatching +obo:GARD_16946 Tropical pancreatitis skos:narrowMatch OMIM:608189 semapv:UnspecifiedMatching +obo:GARD_16947 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch Orphanet:137631 semapv:UnspecifiedMatching +obo:GARD_16947 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:narrowMatch OMIM:611926 semapv:UnspecifiedMatching +obo:GARD_16948 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch Orphanet:137639 semapv:UnspecifiedMatching +obo:GARD_16948 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +obo:GARD_16949 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch Orphanet:137681 semapv:UnspecifiedMatching +obo:GARD_16949 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:narrowMatch OMIM:609060 semapv:UnspecifiedMatching +obo:GARD_1695 Lowe-Kohn-Cohen syndrome skos:exactMatch Orphanet:2408 semapv:UnspecifiedMatching +obo:GARD_16950 Hypotonia with lactic acidemia and hyperammonemia skos:exactMatch Orphanet:137908 semapv:UnspecifiedMatching +obo:GARD_16950 Hypotonia with lactic acidemia and hyperammonemia skos:narrowMatch OMIM:611719 semapv:UnspecifiedMatching +obo:GARD_16951 Choanal atresia skos:exactMatch Orphanet:137914 semapv:UnspecifiedMatching +obo:GARD_16951 Choanal atresia skos:narrowMatch OMIM:608911 semapv:UnspecifiedMatching +obo:GARD_16952 17q11.2 microduplication syndrome skos:exactMatch Orphanet:139474 semapv:UnspecifiedMatching +obo:GARD_16952 17q11.2 microduplication syndrome skos:narrowMatch OMIM:618874 semapv:UnspecifiedMatching +obo:GARD_16953 Distal hereditary motor neuropathy type 1 skos:exactMatch Orphanet:139518 semapv:UnspecifiedMatching +obo:GARD_16953 Distal hereditary motor neuropathy type 1 skos:narrowMatch OMIM:182960 semapv:UnspecifiedMatching +obo:GARD_16954 Distal hereditary motor neuropathy type 2 skos:exactMatch Orphanet:139525 semapv:UnspecifiedMatching +obo:GARD_16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:158590 semapv:UnspecifiedMatching +obo:GARD_16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:608634 semapv:UnspecifiedMatching +obo:GARD_16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:613376 semapv:UnspecifiedMatching +obo:GARD_16954 Distal hereditary motor neuropathy type 2 skos:narrowMatch OMIM:615575 semapv:UnspecifiedMatching +obo:GARD_16955 Distal hereditary motor neuropathy type 5 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching +obo:GARD_16955 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:600794 semapv:UnspecifiedMatching +obo:GARD_16955 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:614751 semapv:UnspecifiedMatching +obo:GARD_16955 Distal hereditary motor neuropathy type 5 skos:narrowMatch OMIM:619112 semapv:UnspecifiedMatching +obo:GARD_16956 Distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139547 semapv:UnspecifiedMatching +obo:GARD_16956 Distal spinal muscular atrophy type 3 skos:narrowMatch OMIM:607088 semapv:UnspecifiedMatching +obo:GARD_16957 X-linked distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139557 semapv:UnspecifiedMatching +obo:GARD_16957 X-linked distal spinal muscular atrophy type 3 skos:narrowMatch OMIM:300489 semapv:UnspecifiedMatching +obo:GARD_16958 Hereditary sensory and autonomic neuropathy type 1B skos:exactMatch Orphanet:139564 semapv:UnspecifiedMatching +obo:GARD_16958 Hereditary sensory and autonomic neuropathy type 1B skos:narrowMatch OMIM:608088 semapv:UnspecifiedMatching +obo:GARD_16959 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:exactMatch Orphanet:139578 semapv:UnspecifiedMatching +obo:GARD_16959 Mutilating hereditary sensory neuropathy with spastic paraplegia skos:narrowMatch OMIM:256840 semapv:UnspecifiedMatching +obo:GARD_1696 Isolated growth hormone deficiency type II skos:exactMatch Orphanet:231679 semapv:UnspecifiedMatching +obo:GARD_1696 Isolated growth hormone deficiency type II skos:narrowMatch OMIM:173100 semapv:UnspecifiedMatching +obo:GARD_16960 Distal hereditary motor neuropathy type 7 skos:exactMatch Orphanet:139589 semapv:UnspecifiedMatching +obo:GARD_16960 Distal hereditary motor neuropathy type 7 skos:narrowMatch OMIM:158580 semapv:UnspecifiedMatching +obo:GARD_16960 Distal hereditary motor neuropathy type 7 skos:narrowMatch OMIM:607641 semapv:UnspecifiedMatching +obo:GARD_16961 Primary intraosseous venous malformation skos:exactMatch Orphanet:140436 semapv:UnspecifiedMatching +obo:GARD_16961 Primary intraosseous venous malformation skos:narrowMatch OMIM:606893 semapv:UnspecifiedMatching +obo:GARD_16962 Autosomal dominant slowed nerve conduction velocity skos:exactMatch Orphanet:140481 semapv:UnspecifiedMatching +obo:GARD_16962 Autosomal dominant slowed nerve conduction velocity skos:narrowMatch OMIM:608236 semapv:UnspecifiedMatching +obo:GARD_16963 Brachydactyly type B2 skos:exactMatch Orphanet:140908 semapv:UnspecifiedMatching +obo:GARD_16963 Brachydactyly type B2 skos:narrowMatch OMIM:611377 semapv:UnspecifiedMatching +obo:GARD_16964 Short stature due to primary acid-labile subunit deficiency skos:exactMatch Orphanet:140941 semapv:UnspecifiedMatching +obo:GARD_16964 Short stature due to primary acid-labile subunit deficiency skos:narrowMatch OMIM:615961 semapv:UnspecifiedMatching +obo:GARD_16965 Autosomal dominant macrothrombocytopenia skos:exactMatch Orphanet:140957 semapv:UnspecifiedMatching +obo:GARD_16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:187800 semapv:UnspecifiedMatching +obo:GARD_16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:613112 semapv:UnspecifiedMatching +obo:GARD_16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:615193 semapv:UnspecifiedMatching +obo:GARD_16965 Autosomal dominant macrothrombocytopenia skos:narrowMatch OMIM:619271 semapv:UnspecifiedMatching +obo:GARD_16966 Bilateral microtia-deafness-cleft palate syndrome skos:exactMatch Orphanet:140963 semapv:UnspecifiedMatching +obo:GARD_16966 Bilateral microtia-deafness-cleft palate syndrome skos:narrowMatch OMIM:612290 semapv:UnspecifiedMatching +obo:GARD_16967 Palmoplantar keratoderma, Nagashima type skos:exactMatch Orphanet:140966 semapv:UnspecifiedMatching +obo:GARD_16967 Palmoplantar keratoderma, Nagashima type skos:narrowMatch OMIM:615598 semapv:UnspecifiedMatching +obo:GARD_16968 Second branchial cleft anomaly skos:exactMatch Orphanet:141022 semapv:UnspecifiedMatching +obo:GARD_16968 Second branchial cleft anomaly skos:narrowMatch OMIM:113600 semapv:UnspecifiedMatching +obo:GARD_16969 External auditory canal aplasia/hypoplasia skos:exactMatch Orphanet:141074 semapv:UnspecifiedMatching +obo:GARD_16969 External auditory canal aplasia/hypoplasia skos:narrowMatch OMIM:108760 semapv:UnspecifiedMatching +obo:GARD_16969 External auditory canal aplasia/hypoplasia skos:narrowMatch OMIM:607842 semapv:UnspecifiedMatching +obo:GARD_1697 Deafness, autosomal recessive 1a skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_1697 Deafness, autosomal recessive 1a skos:exactMatch OMIM:220290 semapv:UnspecifiedMatching +obo:GARD_16970 Nasal dermoid cyst skos:exactMatch Orphanet:141103 semapv:UnspecifiedMatching +obo:GARD_16970 Nasal dermoid cyst skos:narrowMatch OMIM:600679 semapv:UnspecifiedMatching +obo:GARD_16971 Hemifacial hyperplasia skos:exactMatch Orphanet:141145 semapv:UnspecifiedMatching +obo:GARD_16971 Hemifacial hyperplasia skos:narrowMatch OMIM:133900 semapv:UnspecifiedMatching +obo:GARD_16972 Isolated congenital hypoglossia/aglossia skos:exactMatch Orphanet:141152 semapv:UnspecifiedMatching +obo:GARD_16972 Isolated congenital hypoglossia/aglossia skos:narrowMatch OMIM:612776 semapv:UnspecifiedMatching +obo:GARD_16973 Paramedian nasal cleft skos:exactMatch Orphanet:141242 semapv:UnspecifiedMatching +obo:GARD_16973 Paramedian nasal cleft skos:narrowMatch OMIM:614687 semapv:UnspecifiedMatching +obo:GARD_16974 Tessier number 4 facial cleft skos:exactMatch Orphanet:141258 semapv:UnspecifiedMatching +obo:GARD_16974 Tessier number 4 facial cleft skos:narrowMatch OMIM:600251 semapv:UnspecifiedMatching +obo:GARD_16975 Tessier number 7 facial cleft skos:exactMatch Orphanet:141276 semapv:UnspecifiedMatching +obo:GARD_16975 Tessier number 7 facial cleft skos:narrowMatch OMIM:613545 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:119530 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:129400 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:600757 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:602966 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:608371 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:608874 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:610361 semapv:UnspecifiedMatching +obo:GARD_16976 Cleft lip and alveolus skos:narrowMatch OMIM:612858 semapv:UnspecifiedMatching +obo:GARD_16977 Hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch Orphanet:157215 semapv:UnspecifiedMatching +obo:GARD_16977 Hereditary hypophosphatemic rickets with hypercalciuria skos:narrowMatch OMIM:241530 semapv:UnspecifiedMatching +obo:GARD_16978 Congenital or early infantile CACH syndrome skos:exactMatch Orphanet:157713 semapv:UnspecifiedMatching +obo:GARD_16978 Congenital or early infantile CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +obo:GARD_16979 Late infantile CACH syndrome skos:exactMatch Orphanet:157716 semapv:UnspecifiedMatching +obo:GARD_16979 Late infantile CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +obo:GARD_1698 Deafness-oligodontia syndrome skos:exactMatch Orphanet:3230 semapv:UnspecifiedMatching +obo:GARD_1698 Deafness-oligodontia syndrome skos:narrowMatch OMIM:221740 semapv:UnspecifiedMatching +obo:GARD_16980 Juvenile or adult CACH syndrome skos:exactMatch Orphanet:157719 semapv:UnspecifiedMatching +obo:GARD_16980 Juvenile or adult CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +obo:GARD_16981 Hereditary mixed polyposis syndrome skos:exactMatch Orphanet:157794 semapv:UnspecifiedMatching +obo:GARD_16981 Hereditary mixed polyposis syndrome skos:narrowMatch OMIM:601228 semapv:UnspecifiedMatching +obo:GARD_16981 Hereditary mixed polyposis syndrome skos:narrowMatch OMIM:610069 semapv:UnspecifiedMatching +obo:GARD_16982 Serrated polyposis syndrome skos:exactMatch Orphanet:157798 semapv:UnspecifiedMatching +obo:GARD_16982 Serrated polyposis syndrome skos:narrowMatch OMIM:617108 semapv:UnspecifiedMatching +obo:GARD_16983 Cold-induced sweating syndrome skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching +obo:GARD_16983 Cold-induced sweating syndrome skos:narrowMatch OMIM:272430 semapv:UnspecifiedMatching +obo:GARD_16983 Cold-induced sweating syndrome skos:narrowMatch OMIM:610313 semapv:UnspecifiedMatching +obo:GARD_16983 Cold-induced sweating syndrome skos:narrowMatch OMIM:617055 semapv:UnspecifiedMatching +obo:GARD_16984 Craniorhiny skos:exactMatch Orphanet:157832 semapv:UnspecifiedMatching +obo:GARD_16984 Craniorhiny skos:narrowMatch OMIM:123050 semapv:UnspecifiedMatching +obo:GARD_16985 Huntington disease-like 1 skos:exactMatch Orphanet:157941 semapv:UnspecifiedMatching +obo:GARD_16985 Huntington disease-like 1 skos:narrowMatch OMIM:603218 semapv:UnspecifiedMatching +obo:GARD_16986 Huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching +obo:GARD_16986 Huntington disease-like 3 skos:narrowMatch OMIM:604802 semapv:UnspecifiedMatching +obo:GARD_16987 ANE syndrome skos:exactMatch Orphanet:157954 semapv:UnspecifiedMatching +obo:GARD_16987 ANE syndrome skos:narrowMatch OMIM:612079 semapv:UnspecifiedMatching +obo:GARD_16988 Oculoauricular syndrome, Schorderet type skos:exactMatch Orphanet:157962 semapv:UnspecifiedMatching +obo:GARD_16988 Oculoauricular syndrome, Schorderet type skos:narrowMatch OMIM:612109 semapv:UnspecifiedMatching +obo:GARD_16989 Hereditary progressive mucinous histiocytosis skos:exactMatch Orphanet:158025 semapv:UnspecifiedMatching +obo:GARD_16989 Hereditary progressive mucinous histiocytosis skos:narrowMatch OMIM:142630 semapv:UnspecifiedMatching +obo:GARD_16990 Epidermolysis bullosa simplex with circinate migratory erythema skos:exactMatch Orphanet:158681 semapv:UnspecifiedMatching +obo:GARD_16990 Epidermolysis bullosa simplex with circinate migratory erythema skos:narrowMatch OMIM:609352 semapv:UnspecifiedMatching +obo:GARD_16991 Epidermolysis bullosa simplex with pyloric atresia skos:exactMatch Orphanet:158684 semapv:UnspecifiedMatching +obo:GARD_16991 Epidermolysis bullosa simplex with pyloric atresia skos:narrowMatch OMIM:612138 semapv:UnspecifiedMatching +obo:GARD_16992 Hb Bart's hydrops fetalis skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching +obo:GARD_16992 Hb Bart's hydrops fetalis skos:narrowMatch OMIM:236750 semapv:UnspecifiedMatching +obo:GARD_16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome skos:exactMatch Orphanet:163649 semapv:UnspecifiedMatching +obo:GARD_16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome skos:narrowMatch OMIM:602611 semapv:UnspecifiedMatching +obo:GARD_16993 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome skos:narrowMatch OMIM:618618 semapv:UnspecifiedMatching +obo:GARD_16994 Spondyloepiphyseal dysplasia, Reardon type skos:exactMatch Orphanet:163662 semapv:UnspecifiedMatching +obo:GARD_16994 Spondyloepiphyseal dysplasia, Reardon type skos:narrowMatch OMIM:600561 semapv:UnspecifiedMatching +obo:GARD_16995 Spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch Orphanet:163665 semapv:UnspecifiedMatching +obo:GARD_16995 Spondyloepiphyseal dysplasia tarda, Kohn type skos:narrowMatch OMIM:271620 semapv:UnspecifiedMatching +obo:GARD_16996 Spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch Orphanet:163668 semapv:UnspecifiedMatching +obo:GARD_16996 Spondyloepiphyseal dysplasia, MacDermot type skos:narrowMatch OMIM:184000 semapv:UnspecifiedMatching +obo:GARD_16997 CNTNAP2-related developmental and epileptic encephalopathy skos:exactMatch Orphanet:163681 semapv:UnspecifiedMatching +obo:GARD_16997 CNTNAP2-related developmental and epileptic encephalopathy skos:narrowMatch OMIM:610042 semapv:UnspecifiedMatching +obo:GARD_16998 Hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 semapv:UnspecifiedMatching +obo:GARD_16998 Hypotonia-cystinuria syndrome skos:narrowMatch OMIM:606407 semapv:UnspecifiedMatching +obo:GARD_16999 2p21 microdeletion syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching +obo:GARD_16999 2p21 microdeletion syndrome skos:narrowMatch OMIM:606407 semapv:UnspecifiedMatching +obo:GARD_17 Arachnoid cyst skos:exactMatch Orphanet:2356 semapv:UnspecifiedMatching +obo:GARD_17 Arachnoid cyst skos:narrowMatch OMIM:182990 semapv:UnspecifiedMatching +obo:GARD_17 Arachnoid cyst skos:narrowMatch OMIM:207790 semapv:UnspecifiedMatching +obo:GARD_17000 Action myoclonus-renal failure syndrome skos:exactMatch Orphanet:163696 semapv:UnspecifiedMatching +obo:GARD_17000 Action myoclonus-renal failure syndrome skos:narrowMatch OMIM:254900 semapv:UnspecifiedMatching +obo:GARD_17001 Benign familial mesial temporal lobe epilepsy skos:exactMatch Orphanet:163717 semapv:UnspecifiedMatching +obo:GARD_17001 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:611630 semapv:UnspecifiedMatching +obo:GARD_17001 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:614417 semapv:UnspecifiedMatching +obo:GARD_17001 Benign familial mesial temporal lobe epilepsy skos:narrowMatch OMIM:615697 semapv:UnspecifiedMatching +obo:GARD_17002 Rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch Orphanet:163721 semapv:UnspecifiedMatching +obo:GARD_17002 Rolandic epilepsy-speech dyspraxia syndrome skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +obo:GARD_17002 Rolandic epilepsy-speech dyspraxia syndrome skos:narrowMatch OMIM:300643 semapv:UnspecifiedMatching +obo:GARD_17003 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch Orphanet:163727 semapv:UnspecifiedMatching +obo:GARD_17003 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:narrowMatch OMIM:608105 semapv:UnspecifiedMatching +obo:GARD_17004 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:exactMatch Orphanet:163746 semapv:UnspecifiedMatching +obo:GARD_17004 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease skos:narrowMatch OMIM:609136 semapv:UnspecifiedMatching +obo:GARD_17005 X-linked intellectual disability, Nascimento type skos:exactMatch Orphanet:163956 semapv:UnspecifiedMatching +obo:GARD_17005 X-linked intellectual disability, Nascimento type skos:narrowMatch OMIM:300860 semapv:UnspecifiedMatching +obo:GARD_17006 X-linked cerebral-cerebellar-coloboma syndrome skos:exactMatch Orphanet:163961 semapv:UnspecifiedMatching +obo:GARD_17006 X-linked cerebral-cerebellar-coloboma syndrome skos:narrowMatch OMIM:300864 semapv:UnspecifiedMatching +obo:GARD_17007 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch Orphanet:163966 semapv:UnspecifiedMatching +obo:GARD_17007 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:narrowMatch OMIM:300863 semapv:UnspecifiedMatching +obo:GARD_17008 X-linked intellectual disability, Van Esch type skos:exactMatch Orphanet:163976 semapv:UnspecifiedMatching +obo:GARD_17008 X-linked intellectual disability, Van Esch type skos:narrowMatch OMIM:301030 semapv:UnspecifiedMatching +obo:GARD_17009 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch Orphanet:163979 semapv:UnspecifiedMatching +obo:GARD_17009 X-linked intellectual disability-craniofacioskeletal syndrome skos:narrowMatch OMIM:300712 semapv:UnspecifiedMatching +obo:GARD_17010 Hyperekplexia-epilepsy syndrome skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching +obo:GARD_17010 Hyperekplexia-epilepsy syndrome skos:narrowMatch OMIM:300607 semapv:UnspecifiedMatching +obo:GARD_17011 Familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch Orphanet:165805 semapv:UnspecifiedMatching +obo:GARD_17011 Familial mesial temporal lobe epilepsy with febrile seizures skos:narrowMatch OMIM:614418 semapv:UnspecifiedMatching +obo:GARD_17012 Multiple epiphyseal dysplasia, Beighton type skos:exactMatch Orphanet:166011 semapv:UnspecifiedMatching +obo:GARD_17012 Multiple epiphyseal dysplasia, Beighton type skos:narrowMatch OMIM:132450 semapv:UnspecifiedMatching +obo:GARD_17013 Multiple epiphyseal dysplasia, Lowry type skos:exactMatch Orphanet:166016 semapv:UnspecifiedMatching +obo:GARD_17013 Multiple epiphyseal dysplasia, Lowry type skos:narrowMatch OMIM:601560 semapv:UnspecifiedMatching +obo:GARD_17014 Multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch Orphanet:166024 semapv:UnspecifiedMatching +obo:GARD_17014 Multiple epiphyseal dysplasia, Al-Gazali type skos:narrowMatch OMIM:607131 semapv:UnspecifiedMatching +obo:GARD_17015 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch Orphanet:166029 semapv:UnspecifiedMatching +obo:GARD_17015 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:narrowMatch OMIM:609324 semapv:UnspecifiedMatching +obo:GARD_17016 Multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch Orphanet:166032 semapv:UnspecifiedMatching +obo:GARD_17016 Multiple epiphyseal dysplasia, with miniepiphyses skos:narrowMatch OMIM:609325 semapv:UnspecifiedMatching +obo:GARD_17017 Brachydactyly-short stature-retinitis pigmentosa syndrome skos:exactMatch Orphanet:166035 semapv:UnspecifiedMatching +obo:GARD_17017 Brachydactyly-short stature-retinitis pigmentosa syndrome skos:narrowMatch OMIM:250410 semapv:UnspecifiedMatching +obo:GARD_17018 Metaphyseal chondrodysplasia, Kaitila type skos:exactMatch Orphanet:166038 semapv:UnspecifiedMatching +obo:GARD_17018 Metaphyseal chondrodysplasia, Kaitila type skos:narrowMatch OMIM:250230 semapv:UnspecifiedMatching +obo:GARD_17019 Von Willebrand disease type 1 skos:exactMatch Orphanet:166078 semapv:UnspecifiedMatching +obo:GARD_17019 Von Willebrand disease type 1 skos:narrowMatch OMIM:193400 semapv:UnspecifiedMatching +obo:GARD_17020 Von Willebrand disease type 2 skos:exactMatch Orphanet:166081 semapv:UnspecifiedMatching +obo:GARD_17020 Von Willebrand disease type 2 skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +obo:GARD_17021 Von Willebrand disease type 2A skos:exactMatch Orphanet:166084 semapv:UnspecifiedMatching +obo:GARD_17021 Von Willebrand disease type 2A skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +obo:GARD_17022 Von Willebrand disease type 2B skos:exactMatch Orphanet:166087 semapv:UnspecifiedMatching +obo:GARD_17022 Von Willebrand disease type 2B skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +obo:GARD_17023 Von Willebrand disease type 2M skos:exactMatch Orphanet:166090 semapv:UnspecifiedMatching +obo:GARD_17023 Von Willebrand disease type 2M skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +obo:GARD_17024 Von Willebrand disease type 2N skos:exactMatch Orphanet:166093 semapv:UnspecifiedMatching +obo:GARD_17024 Von Willebrand disease type 2N skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +obo:GARD_17025 Von Willebrand disease type 3 skos:exactMatch Orphanet:166096 semapv:UnspecifiedMatching +obo:GARD_17025 Von Willebrand disease type 3 skos:narrowMatch OMIM:277480 semapv:UnspecifiedMatching +obo:GARD_17026 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch Orphanet:166105 semapv:UnspecifiedMatching +obo:GARD_17026 FASTKD2-related infantile mitochondrial encephalomyopathy skos:narrowMatch OMIM:618855 semapv:UnspecifiedMatching +obo:GARD_17027 Isolated osteopoikilosis skos:exactMatch Orphanet:166119 semapv:UnspecifiedMatching +obo:GARD_17027 Isolated osteopoikilosis skos:narrowMatch OMIM:166700 semapv:UnspecifiedMatching +obo:GARD_17028 Hot water reflex epilepsy skos:exactMatch Orphanet:166412 semapv:UnspecifiedMatching +obo:GARD_17028 Hot water reflex epilepsy skos:narrowMatch OMIM:613339 semapv:UnspecifiedMatching +obo:GARD_17028 Hot water reflex epilepsy skos:narrowMatch OMIM:613340 semapv:UnspecifiedMatching +obo:GARD_17029 Reading seizures skos:exactMatch Orphanet:166433 semapv:UnspecifiedMatching +obo:GARD_17029 Reading seizures skos:narrowMatch OMIM:132300 semapv:UnspecifiedMatching +obo:GARD_17030 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch Orphanet:168451 semapv:UnspecifiedMatching +obo:GARD_17030 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:narrowMatch OMIM:601668 semapv:UnspecifiedMatching +obo:GARD_17031 Congenital neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168486 semapv:UnspecifiedMatching +obo:GARD_17031 Congenital neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204500 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256731 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:600143 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:601780 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +obo:GARD_17032 Late infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610951 semapv:UnspecifiedMatching +obo:GARD_17033 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch Orphanet:168558 semapv:UnspecifiedMatching +obo:GARD_17033 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:narrowMatch OMIM:613743 semapv:UnspecifiedMatching +obo:GARD_17034 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch Orphanet:168563 semapv:UnspecifiedMatching +obo:GARD_17034 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:narrowMatch OMIM:607080 semapv:UnspecifiedMatching +obo:GARD_17035 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch Orphanet:168566 semapv:UnspecifiedMatching +obo:GARD_17035 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:narrowMatch OMIM:610505 semapv:UnspecifiedMatching +obo:GARD_17036 Hereditary cryohydrocytosis with reduced stomatin skos:exactMatch Orphanet:168577 semapv:UnspecifiedMatching +obo:GARD_17036 Hereditary cryohydrocytosis with reduced stomatin skos:narrowMatch OMIM:608885 semapv:UnspecifiedMatching +obo:GARD_17037 Hereditary North American Indian childhood cirrhosis skos:exactMatch Orphanet:168583 semapv:UnspecifiedMatching +obo:GARD_17037 Hereditary North American Indian childhood cirrhosis skos:narrowMatch OMIM:604901 semapv:UnspecifiedMatching +obo:GARD_17038 Congenital enteropathy due to enteropeptidase deficiency skos:exactMatch Orphanet:168601 semapv:UnspecifiedMatching +obo:GARD_17038 Congenital enteropathy due to enteropeptidase deficiency skos:narrowMatch OMIM:226200 semapv:UnspecifiedMatching +obo:GARD_17039 Seborrhea-like dermatitis with psoriasiform elements skos:exactMatch Orphanet:168606 semapv:UnspecifiedMatching +obo:GARD_17039 Seborrhea-like dermatitis with psoriasiform elements skos:narrowMatch OMIM:610227 semapv:UnspecifiedMatching +obo:GARD_17040 Congenital deficiency in alpha-fetoprotein skos:exactMatch Orphanet:168612 semapv:UnspecifiedMatching +obo:GARD_17040 Congenital deficiency in alpha-fetoprotein skos:narrowMatch OMIM:615969 semapv:UnspecifiedMatching +obo:GARD_17041 Autosomal thrombocytopenia with normal platelets skos:exactMatch Orphanet:168629 semapv:UnspecifiedMatching +obo:GARD_17041 Autosomal thrombocytopenia with normal platelets skos:narrowMatch OMIM:188000 semapv:UnspecifiedMatching +obo:GARD_17041 Autosomal thrombocytopenia with normal platelets skos:narrowMatch OMIM:273900 semapv:UnspecifiedMatching +obo:GARD_17041 Autosomal thrombocytopenia with normal platelets skos:narrowMatch OMIM:612004 semapv:UnspecifiedMatching +obo:GARD_17042 Generalized basaloid follicular hamartoma syndrome skos:exactMatch Orphanet:168632 semapv:UnspecifiedMatching +obo:GARD_17042 Generalized basaloid follicular hamartoma syndrome skos:narrowMatch OMIM:605827 semapv:UnspecifiedMatching +obo:GARD_17043 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement skos:exactMatch Orphanet:168953 semapv:UnspecifiedMatching +obo:GARD_17043 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement skos:narrowMatch OMIM:613523 semapv:UnspecifiedMatching +obo:GARD_17044 CLAPO syndrome skos:exactMatch Orphanet:168984 semapv:UnspecifiedMatching +obo:GARD_17044 CLAPO syndrome skos:narrowMatch OMIM:613089 semapv:UnspecifiedMatching +obo:GARD_17045 Cernunnos-XLF deficiency skos:exactMatch Orphanet:169079 semapv:UnspecifiedMatching +obo:GARD_17045 Cernunnos-XLF deficiency skos:narrowMatch OMIM:611291 semapv:UnspecifiedMatching +obo:GARD_17046 Combined immunodeficiency due to CD3gamma deficiency skos:exactMatch Orphanet:169082 semapv:UnspecifiedMatching +obo:GARD_17046 Combined immunodeficiency due to CD3gamma deficiency skos:narrowMatch OMIM:615607 semapv:UnspecifiedMatching +obo:GARD_17047 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch Orphanet:169085 semapv:UnspecifiedMatching +obo:GARD_17047 Susceptibility to respiratory infections associated with CD8alpha chain mutation skos:narrowMatch OMIM:608957 semapv:UnspecifiedMatching +obo:GARD_17048 Combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch Orphanet:169090 semapv:UnspecifiedMatching +obo:GARD_17048 Combined immunodeficiency due to CRAC channel dysfunction skos:narrowMatch OMIM:612782 semapv:UnspecifiedMatching +obo:GARD_17048 Combined immunodeficiency due to CRAC channel dysfunction skos:narrowMatch OMIM:612783 semapv:UnspecifiedMatching +obo:GARD_17049 Immunodeficiency due to CD25 deficiency skos:exactMatch Orphanet:169100 semapv:UnspecifiedMatching +obo:GARD_17049 Immunodeficiency due to CD25 deficiency skos:narrowMatch OMIM:606367 semapv:UnspecifiedMatching +obo:GARD_1705 Deafness-vitiligo-achalasia syndrome skos:exactMatch Orphanet:3239 semapv:UnspecifiedMatching +obo:GARD_1705 Deafness-vitiligo-achalasia syndrome skos:narrowMatch OMIM:221350 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:exactMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:609536 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:610102 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:612446 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613789 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613790 semapv:UnspecifiedMatching +obo:GARD_17050 Immunodeficiency due to a late component of complement deficiency skos:narrowMatch OMIM:613825 semapv:UnspecifiedMatching +obo:GARD_17051 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch Orphanet:169154 semapv:UnspecifiedMatching +obo:GARD_17051 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:narrowMatch OMIM:608971 semapv:UnspecifiedMatching +obo:GARD_17052 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch Orphanet:169157 semapv:UnspecifiedMatching +obo:GARD_17052 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:narrowMatch OMIM:608971 semapv:UnspecifiedMatching +obo:GARD_17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:exactMatch Orphanet:169160 semapv:UnspecifiedMatching +obo:GARD_17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:608971 semapv:UnspecifiedMatching +obo:GARD_17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:610163 semapv:UnspecifiedMatching +obo:GARD_17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:615615 semapv:UnspecifiedMatching +obo:GARD_17053 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:narrowMatch OMIM:615617 semapv:UnspecifiedMatching +obo:GARD_17054 Primary CD59 deficiency skos:exactMatch Orphanet:169464 semapv:UnspecifiedMatching +obo:GARD_17054 Primary CD59 deficiency skos:narrowMatch OMIM:612300 semapv:UnspecifiedMatching +obo:GARD_17055 Recurrent Neisseria infections due to factor D deficiency skos:exactMatch Orphanet:169467 semapv:UnspecifiedMatching +obo:GARD_17055 Recurrent Neisseria infections due to factor D deficiency skos:narrowMatch OMIM:613912 semapv:UnspecifiedMatching +obo:GARD_17056 Severe hemophilia B skos:exactMatch Orphanet:169793 semapv:UnspecifiedMatching +obo:GARD_17056 Severe hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +obo:GARD_17057 Moderate hemophilia B skos:exactMatch Orphanet:169796 semapv:UnspecifiedMatching +obo:GARD_17057 Moderate hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +obo:GARD_17058 Mild hemophilia B skos:exactMatch Orphanet:169799 semapv:UnspecifiedMatching +obo:GARD_17058 Mild hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +obo:GARD_17059 Severe hemophilia A skos:exactMatch Orphanet:169802 semapv:UnspecifiedMatching +obo:GARD_17059 Severe hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +obo:GARD_17060 Moderate hemophilia A skos:exactMatch Orphanet:169805 semapv:UnspecifiedMatching +obo:GARD_17060 Moderate hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +obo:GARD_17061 Mild hemophilia A skos:exactMatch Orphanet:169808 semapv:UnspecifiedMatching +obo:GARD_17061 Mild hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +obo:GARD_17062 Muscle filaminopathy skos:exactMatch Orphanet:171445 semapv:UnspecifiedMatching +obo:GARD_17062 Muscle filaminopathy skos:narrowMatch OMIM:609524 semapv:UnspecifiedMatching +obo:GARD_17063 X-linked spastic paraplegia type 34 skos:exactMatch Orphanet:171607 semapv:UnspecifiedMatching +obo:GARD_17063 X-linked spastic paraplegia type 34 skos:narrowMatch OMIM:300750 semapv:UnspecifiedMatching +obo:GARD_17064 Autosomal dominant spastic paraplegia type 37 skos:exactMatch Orphanet:171612 semapv:UnspecifiedMatching +obo:GARD_17064 Autosomal dominant spastic paraplegia type 37 skos:narrowMatch OMIM:611945 semapv:UnspecifiedMatching +obo:GARD_17065 Autosomal dominant spastic paraplegia type 38 skos:exactMatch Orphanet:171617 semapv:UnspecifiedMatching +obo:GARD_17065 Autosomal dominant spastic paraplegia type 38 skos:narrowMatch OMIM:612335 semapv:UnspecifiedMatching +obo:GARD_17066 Lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:171680 semapv:UnspecifiedMatching +obo:GARD_17066 Lissencephaly due to TUBA1A mutation skos:narrowMatch OMIM:611603 semapv:UnspecifiedMatching +obo:GARD_17067 Metabolic myopathy due to lactate transporter defect skos:exactMatch Orphanet:171690 semapv:UnspecifiedMatching +obo:GARD_17067 Metabolic myopathy due to lactate transporter defect skos:narrowMatch OMIM:245340 semapv:UnspecifiedMatching +obo:GARD_17068 Short stature-delayed bone age due to thyroid hormone metabolism deficiency skos:exactMatch Orphanet:171706 semapv:UnspecifiedMatching +obo:GARD_17068 Short stature-delayed bone age due to thyroid hormone metabolism deficiency skos:narrowMatch OMIM:609698 semapv:UnspecifiedMatching +obo:GARD_17069 Cutis laxa-Marfanoid syndrome skos:exactMatch Orphanet:171719 semapv:UnspecifiedMatching +obo:GARD_17069 Cutis laxa-Marfanoid syndrome skos:narrowMatch OMIM:614100 semapv:UnspecifiedMatching +obo:GARD_17070 Blindness-scoliosis-arachnodactyly syndrome skos:exactMatch Orphanet:171844 semapv:UnspecifiedMatching +obo:GARD_17070 Blindness-scoliosis-arachnodactyly syndrome skos:narrowMatch OMIM:612445 semapv:UnspecifiedMatching +obo:GARD_17071 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome skos:exactMatch Orphanet:171848 semapv:UnspecifiedMatching +obo:GARD_17071 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome skos:narrowMatch OMIM:612674 semapv:UnspecifiedMatching +obo:GARD_17072 MEDNIK syndrome skos:exactMatch Orphanet:171851 semapv:UnspecifiedMatching +obo:GARD_17072 MEDNIK syndrome skos:narrowMatch OMIM:609313 semapv:UnspecifiedMatching +obo:GARD_17073 Autosomal dominant spastic paraplegia type 42 skos:exactMatch Orphanet:171863 semapv:UnspecifiedMatching +obo:GARD_17073 Autosomal dominant spastic paraplegia type 42 skos:narrowMatch OMIM:612539 semapv:UnspecifiedMatching +obo:GARD_17074 Prader-Willi syndrome due to translocation skos:exactMatch Orphanet:177907 semapv:UnspecifiedMatching +obo:GARD_17074 Prader-Willi syndrome due to translocation skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +obo:GARD_17075 Prader-Willi syndrome due to imprinting mutation skos:exactMatch Orphanet:177910 semapv:UnspecifiedMatching +obo:GARD_17075 Prader-Willi syndrome due to imprinting mutation skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +obo:GARD_17076 Bleeding disorder in hemophilia A carriers skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching +obo:GARD_17076 Bleeding disorder in hemophilia A carriers skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +obo:GARD_17077 Bleeding disorder in hemophilia B carriers skos:exactMatch Orphanet:177929 semapv:UnspecifiedMatching +obo:GARD_17077 Bleeding disorder in hemophilia B carriers skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +obo:GARD_17078 Moderate multiminicore disease with hand involvement skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching +obo:GARD_17078 Moderate multiminicore disease with hand involvement skos:narrowMatch OMIM:117000 semapv:UnspecifiedMatching +obo:GARD_17079 Reticulate acropigmentation of Kitamura skos:exactMatch Orphanet:178307 semapv:UnspecifiedMatching +obo:GARD_17079 Reticulate acropigmentation of Kitamura skos:narrowMatch OMIM:615537 semapv:UnspecifiedMatching +obo:GARD_1708 Deafness, autosomal dominant 23 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_1708 Deafness, autosomal dominant 23 skos:exactMatch OMIM:605192 semapv:UnspecifiedMatching +obo:GARD_17080 Distal myopathy with anterior tibial onset skos:exactMatch Orphanet:178400 semapv:UnspecifiedMatching +obo:GARD_17080 Distal myopathy with anterior tibial onset skos:narrowMatch OMIM:606768 semapv:UnspecifiedMatching +obo:GARD_17081 X-linked myopathy with postural muscle atrophy skos:exactMatch Orphanet:178461 semapv:UnspecifiedMatching +obo:GARD_17081 X-linked myopathy with postural muscle atrophy skos:narrowMatch OMIM:300696 semapv:UnspecifiedMatching +obo:GARD_17082 Brain calcification, Rajab type skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching +obo:GARD_17082 Brain calcification, Rajab type skos:narrowMatch OMIM:613658 semapv:UnspecifiedMatching +obo:GARD_17082 Brain calcification, Rajab type skos:narrowMatch OMIM:619013 semapv:UnspecifiedMatching +obo:GARD_17083 Obesity due to leptin receptor gene deficiency skos:exactMatch Orphanet:179494 semapv:UnspecifiedMatching +obo:GARD_17083 Obesity due to leptin receptor gene deficiency skos:narrowMatch OMIM:614963 semapv:UnspecifiedMatching +obo:GARD_17084 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:exactMatch Orphanet:183663 semapv:UnspecifiedMatching +obo:GARD_17084 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:narrowMatch OMIM:308230 semapv:UnspecifiedMatching +obo:GARD_17084 Hyper-IgM syndrome with susceptibility to opportunistic infections skos:narrowMatch OMIM:606843 semapv:UnspecifiedMatching +obo:GARD_17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:exactMatch Orphanet:183666 semapv:UnspecifiedMatching +obo:GARD_17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:605258 semapv:UnspecifiedMatching +obo:GARD_17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:608106 semapv:UnspecifiedMatching +obo:GARD_17085 Hyper-IgM syndrome without susceptibility to opportunistic infections skos:narrowMatch OMIM:608184 semapv:UnspecifiedMatching +obo:GARD_17086 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch Orphanet:183675 semapv:UnspecifiedMatching +obo:GARD_17086 Recurrent infections associated with rare immunoglobulin isotypes deficiency skos:narrowMatch OMIM:614102 semapv:UnspecifiedMatching +obo:GARD_17087 Neutrophil immunodeficiency syndrome skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching +obo:GARD_17087 Neutrophil immunodeficiency syndrome skos:narrowMatch OMIM:608203 semapv:UnspecifiedMatching +obo:GARD_17087 Neutrophil immunodeficiency syndrome skos:narrowMatch OMIM:618987 semapv:UnspecifiedMatching +obo:GARD_17088 Familial isolated hypoparathyroidism due to impaired PTH secretion skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching +obo:GARD_17088 Familial isolated hypoparathyroidism due to impaired PTH secretion skos:narrowMatch OMIM:146200 semapv:UnspecifiedMatching +obo:GARD_17089 Familial angiolipomatosis skos:exactMatch Orphanet:199279 semapv:UnspecifiedMatching +obo:GARD_17089 Familial angiolipomatosis skos:narrowMatch OMIM:206550 semapv:UnspecifiedMatching +obo:GARD_17090 Hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch Orphanet:199285 semapv:UnspecifiedMatching +obo:GARD_17090 Hereditary hypercarotenemia and vitamin A deficiency skos:narrowMatch OMIM:115300 semapv:UnspecifiedMatching +obo:GARD_17090 Hereditary hypercarotenemia and vitamin A deficiency skos:narrowMatch OMIM:277350 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:119530 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:129400 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:600757 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:602966 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:608371 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:608874 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:610361 semapv:UnspecifiedMatching +obo:GARD_17091 Isolated cleft lip skos:narrowMatch OMIM:612858 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:119530 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:129400 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:600625 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:600757 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:602966 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:608371 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:608864 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:608874 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:610361 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:612858 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:613705 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:616788 semapv:UnspecifiedMatching +obo:GARD_17092 Cleft lip/palate skos:narrowMatch OMIM:618149 semapv:UnspecifiedMatching +obo:GARD_17093 Familial clubfoot with or without associated lower limb anomalies skos:exactMatch Orphanet:199315 semapv:UnspecifiedMatching +obo:GARD_17093 Familial clubfoot with or without associated lower limb anomalies skos:narrowMatch OMIM:119800 semapv:UnspecifiedMatching +obo:GARD_17093 Familial clubfoot with or without associated lower limb anomalies skos:narrowMatch OMIM:613618 semapv:UnspecifiedMatching +obo:GARD_17094 Endocrine-cerebro-osteodysplasia syndrome skos:exactMatch Orphanet:199332 semapv:UnspecifiedMatching +obo:GARD_17094 Endocrine-cerebro-osteodysplasia syndrome skos:narrowMatch OMIM:612651 semapv:UnspecifiedMatching +obo:GARD_17095 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch Orphanet:199337 semapv:UnspecifiedMatching +obo:GARD_17095 Pancreatic insufficiency-anemia-hyperostosis syndrome skos:narrowMatch OMIM:612714 semapv:UnspecifiedMatching +obo:GARD_17096 Muscular dystrophy, Selcen type skos:exactMatch Orphanet:199340 semapv:UnspecifiedMatching +obo:GARD_17096 Muscular dystrophy, Selcen type skos:narrowMatch OMIM:612954 semapv:UnspecifiedMatching +obo:GARD_17097 Thiamine-responsive encephalopathy skos:exactMatch Orphanet:199348 semapv:UnspecifiedMatching +obo:GARD_17097 Thiamine-responsive encephalopathy skos:narrowMatch OMIM:607483 semapv:UnspecifiedMatching +obo:GARD_17098 Immunodeficiency with factor I anomaly skos:exactMatch Orphanet:200418 semapv:UnspecifiedMatching +obo:GARD_17098 Immunodeficiency with factor I anomaly skos:narrowMatch OMIM:610984 semapv:UnspecifiedMatching +obo:GARD_17099 Immunodeficiency with factor H anomaly skos:exactMatch Orphanet:200421 semapv:UnspecifiedMatching +obo:GARD_17099 Immunodeficiency with factor H anomaly skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_17100 Gonadoblastoma skos:exactMatch Orphanet:206484 semapv:UnspecifiedMatching +obo:GARD_17100 Gonadoblastoma skos:narrowMatch OMIM:424500 semapv:UnspecifiedMatching +obo:GARD_17101 Autosomal recessive lower motor neuron disease with childhood onset skos:exactMatch Orphanet:206580 semapv:UnspecifiedMatching +obo:GARD_17101 Autosomal recessive lower motor neuron disease with childhood onset skos:narrowMatch OMIM:611067 semapv:UnspecifiedMatching +obo:GARD_17102 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:209335 semapv:UnspecifiedMatching +obo:GARD_17102 Autosomal dominant adult-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:182980 semapv:UnspecifiedMatching +obo:GARD_17103 Severe neonatal-onset encephalopathy with microcephaly skos:exactMatch Orphanet:209370 semapv:UnspecifiedMatching +obo:GARD_17103 Severe neonatal-onset encephalopathy with microcephaly skos:narrowMatch OMIM:300673 semapv:UnspecifiedMatching +obo:GARD_17104 Autosomal dominant rhegmatogenous retinal detachment skos:exactMatch Orphanet:209867 semapv:UnspecifiedMatching +obo:GARD_17104 Autosomal dominant rhegmatogenous retinal detachment skos:narrowMatch OMIM:609508 semapv:UnspecifiedMatching +obo:GARD_17105 Extraskeletal myxoid chondrosarcoma skos:exactMatch Orphanet:209916 semapv:UnspecifiedMatching +obo:GARD_17105 Extraskeletal myxoid chondrosarcoma skos:narrowMatch OMIM:612237 semapv:UnspecifiedMatching +obo:GARD_17106 Idiopathic copper-associated cirrhosis skos:exactMatch Orphanet:209919 semapv:UnspecifiedMatching +obo:GARD_17106 Idiopathic copper-associated cirrhosis skos:narrowMatch OMIM:215600 semapv:UnspecifiedMatching +obo:GARD_17107 Episodic ataxia type 6 skos:exactMatch Orphanet:209967 semapv:UnspecifiedMatching +obo:GARD_17107 Episodic ataxia type 6 skos:narrowMatch OMIM:612656 semapv:UnspecifiedMatching +obo:GARD_17108 Episodic ataxia type 7 skos:exactMatch Orphanet:209970 semapv:UnspecifiedMatching +obo:GARD_17108 Episodic ataxia type 7 skos:narrowMatch OMIM:611907 semapv:UnspecifiedMatching +obo:GARD_17109 Inherited congenital spastic tetraplegia skos:exactMatch Orphanet:210141 semapv:UnspecifiedMatching +obo:GARD_17109 Inherited congenital spastic tetraplegia skos:narrowMatch OMIM:612900 semapv:UnspecifiedMatching +obo:GARD_17109 Inherited congenital spastic tetraplegia skos:narrowMatch OMIM:617008 semapv:UnspecifiedMatching +obo:GARD_17110 Lethal polymalformative syndrome, Boissel type skos:exactMatch Orphanet:210144 semapv:UnspecifiedMatching +obo:GARD_17110 Lethal polymalformative syndrome, Boissel type skos:narrowMatch OMIM:612938 semapv:UnspecifiedMatching +obo:GARD_17111 Congenital lethal myopathy, Compton-North type skos:exactMatch Orphanet:210163 semapv:UnspecifiedMatching +obo:GARD_17111 Congenital lethal myopathy, Compton-North type skos:narrowMatch OMIM:612540 semapv:UnspecifiedMatching +obo:GARD_17112 Macrocephaly-intellectual disability-autism syndrome skos:exactMatch Orphanet:210548 semapv:UnspecifiedMatching +obo:GARD_17112 Macrocephaly-intellectual disability-autism syndrome skos:narrowMatch OMIM:605309 semapv:UnspecifiedMatching +obo:GARD_17112 Macrocephaly-intellectual disability-autism syndrome skos:narrowMatch OMIM:613926 semapv:UnspecifiedMatching +obo:GARD_17113 Episodic ataxia type 5 skos:exactMatch Orphanet:211067 semapv:UnspecifiedMatching +obo:GARD_17113 Episodic ataxia type 5 skos:narrowMatch OMIM:613855 semapv:UnspecifiedMatching +obo:GARD_17114 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216866 semapv:UnspecifiedMatching +obo:GARD_17114 Classic pantothenate kinase-associated neurodegeneration skos:narrowMatch OMIM:234200 semapv:UnspecifiedMatching +obo:GARD_17115 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching +obo:GARD_17115 Atypical pantothenate kinase-associated neurodegeneration skos:narrowMatch OMIM:234200 semapv:UnspecifiedMatching +obo:GARD_17116 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch Orphanet:217026 semapv:UnspecifiedMatching +obo:GARD_17116 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:narrowMatch OMIM:612946 semapv:UnspecifiedMatching +obo:GARD_17117 Isolated congenital digital clubbing skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching +obo:GARD_17117 Isolated congenital digital clubbing skos:narrowMatch OMIM:119900 semapv:UnspecifiedMatching +obo:GARD_17118 Mucopolysaccharidosis type 2, severe form skos:exactMatch Orphanet:217085 semapv:UnspecifiedMatching +obo:GARD_17118 Mucopolysaccharidosis type 2, severe form skos:narrowMatch OMIM:309900 semapv:UnspecifiedMatching +obo:GARD_17119 Mucopolysaccharidosis type 2, attenuated form skos:exactMatch Orphanet:217093 semapv:UnspecifiedMatching +obo:GARD_17119 Mucopolysaccharidosis type 2, attenuated form skos:narrowMatch OMIM:309900 semapv:UnspecifiedMatching +obo:GARD_17120 RIN2 syndrome skos:exactMatch Orphanet:217335 semapv:UnspecifiedMatching +obo:GARD_17120 RIN2 syndrome skos:narrowMatch OMIM:613075 semapv:UnspecifiedMatching +obo:GARD_17121 17q21.31 microduplication syndrome skos:exactMatch Orphanet:217340 semapv:UnspecifiedMatching +obo:GARD_17121 17q21.31 microduplication syndrome skos:narrowMatch OMIM:613533 semapv:UnspecifiedMatching +obo:GARD_17122 17p13.3 microduplication syndrome skos:exactMatch Orphanet:217385 semapv:UnspecifiedMatching +obo:GARD_17122 17p13.3 microduplication syndrome skos:narrowMatch OMIM:613215 semapv:UnspecifiedMatching +obo:GARD_17123 Progressive polyneuropathy with bilateral striatal necrosis skos:exactMatch Orphanet:217396 semapv:UnspecifiedMatching +obo:GARD_17123 Progressive polyneuropathy with bilateral striatal necrosis skos:narrowMatch OMIM:613710 semapv:UnspecifiedMatching +obo:GARD_17124 Hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch Orphanet:217407 semapv:UnspecifiedMatching +obo:GARD_17124 Hereditary hypotrichosis with recurrent skin vesicles skos:narrowMatch OMIM:613102 semapv:UnspecifiedMatching +obo:GARD_17125 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch Orphanet:217467 semapv:UnspecifiedMatching +obo:GARD_17125 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:narrowMatch OMIM:613116 semapv:UnspecifiedMatching +obo:GARD_17126 Neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch Orphanet:217563 semapv:UnspecifiedMatching +obo:GARD_17126 Neonatal acute respiratory distress due to SP-B deficiency skos:narrowMatch OMIM:265120 semapv:UnspecifiedMatching +obo:GARD_17127 Chronic respiratory distress with surfactant metabolism deficiency skos:exactMatch Orphanet:217566 semapv:UnspecifiedMatching +obo:GARD_17127 Chronic respiratory distress with surfactant metabolism deficiency skos:narrowMatch OMIM:610913 semapv:UnspecifiedMatching +obo:GARD_17128 Sensorineural deafness with dilated cardiomyopathy skos:exactMatch Orphanet:217622 semapv:UnspecifiedMatching +obo:GARD_17128 Sensorineural deafness with dilated cardiomyopathy skos:narrowMatch OMIM:605362 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:600996 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:602086 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:602087 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:604400 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:604401 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:607450 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:609040 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:610476 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:611528 semapv:UnspecifiedMatching +obo:GARD_17129 Familial isolated arrhythmogenic right ventricular dysplasia skos:narrowMatch OMIM:615616 semapv:UnspecifiedMatching +obo:GARD_17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch Orphanet:220295 semapv:UnspecifiedMatching +obo:GARD_17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278730 semapv:UnspecifiedMatching +obo:GARD_17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278760 semapv:UnspecifiedMatching +obo:GARD_17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +obo:GARD_17130 Xeroderma pigmentosum-Cockayne syndrome complex skos:narrowMatch OMIM:610651 semapv:UnspecifiedMatching +obo:GARD_17131 Semilobar holoprosencephaly skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching +obo:GARD_17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:301043 semapv:UnspecifiedMatching +obo:GARD_17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_17131 Semilobar holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_17132 Bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch Orphanet:220443 semapv:UnspecifiedMatching +obo:GARD_17132 Bleeding diathesis due to thromboxane synthesis deficiency skos:narrowMatch OMIM:614009 semapv:UnspecifiedMatching +obo:GARD_17133 Laron syndrome with immunodeficiency skos:exactMatch Orphanet:220465 semapv:UnspecifiedMatching +obo:GARD_17133 Laron syndrome with immunodeficiency skos:narrowMatch OMIM:245590 semapv:UnspecifiedMatching +obo:GARD_17133 Laron syndrome with immunodeficiency skos:narrowMatch OMIM:618985 semapv:UnspecifiedMatching +obo:GARD_17134 Rothmund-Thomson syndrome type 1 skos:exactMatch Orphanet:221008 semapv:UnspecifiedMatching +obo:GARD_17134 Rothmund-Thomson syndrome type 1 skos:narrowMatch OMIM:268400 semapv:UnspecifiedMatching +obo:GARD_17134 Rothmund-Thomson syndrome type 1 skos:narrowMatch OMIM:618625 semapv:UnspecifiedMatching +obo:GARD_17135 Rothmund-Thomson syndrome type 2 skos:exactMatch Orphanet:221016 semapv:UnspecifiedMatching +obo:GARD_17135 Rothmund-Thomson syndrome type 2 skos:narrowMatch OMIM:268400 semapv:UnspecifiedMatching +obo:GARD_17136 Hereditary sclerosing poikiloderma, Weary type skos:exactMatch Orphanet:221039 semapv:UnspecifiedMatching +obo:GARD_17136 Hereditary sclerosing poikiloderma, Weary type skos:narrowMatch OMIM:173700 semapv:UnspecifiedMatching +obo:GARD_17137 Hemifacial spasm skos:exactMatch Orphanet:221083 semapv:UnspecifiedMatching +obo:GARD_17137 Hemifacial spasm skos:narrowMatch OMIM:141405 semapv:UnspecifiedMatching +obo:GARD_17138 Fowler vasculopaty skos:exactMatch Orphanet:221126 semapv:UnspecifiedMatching +obo:GARD_17138 Fowler vasculopaty skos:narrowMatch OMIM:225790 semapv:UnspecifiedMatching +obo:GARD_17139 Combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch Orphanet:221139 semapv:UnspecifiedMatching +obo:GARD_17139 Combined immunodeficiency with faciooculoskeletal anomalies skos:narrowMatch OMIM:613328 semapv:UnspecifiedMatching +obo:GARD_17140 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch Orphanet:221145 semapv:UnspecifiedMatching +obo:GARD_17140 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:narrowMatch OMIM:613177 semapv:UnspecifiedMatching +obo:GARD_17141 Familial infantile bilateral striatal necrosis skos:exactMatch Orphanet:225154 semapv:UnspecifiedMatching +obo:GARD_17141 Familial infantile bilateral striatal necrosis skos:narrowMatch OMIM:271930 semapv:UnspecifiedMatching +obo:GARD_17141 Familial infantile bilateral striatal necrosis skos:narrowMatch OMIM:500003 semapv:UnspecifiedMatching +obo:GARD_17142 Hereditary breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching +obo:GARD_17142 Hereditary breast cancer skos:narrowMatch OMIM:114480 semapv:UnspecifiedMatching +obo:GARD_17142 Hereditary breast cancer skos:narrowMatch OMIM:604370 semapv:UnspecifiedMatching +obo:GARD_17142 Hereditary breast cancer skos:narrowMatch OMIM:612555 semapv:UnspecifiedMatching +obo:GARD_17142 Hereditary breast cancer skos:narrowMatch OMIM:613399 semapv:UnspecifiedMatching +obo:GARD_17143 Autosomal recessive optic atrophy, OPA7 type skos:exactMatch Orphanet:227976 semapv:UnspecifiedMatching +obo:GARD_17143 Autosomal recessive optic atrophy, OPA7 type skos:narrowMatch OMIM:612989 semapv:UnspecifiedMatching +obo:GARD_17144 Severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch Orphanet:228003 semapv:UnspecifiedMatching +obo:GARD_17144 Severe combined immunodeficiency due to CORO1A deficiency skos:narrowMatch OMIM:615401 semapv:UnspecifiedMatching +obo:GARD_17145 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:exactMatch Orphanet:228012 semapv:UnspecifiedMatching +obo:GARD_17145 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:narrowMatch OMIM:606346 semapv:UnspecifiedMatching +obo:GARD_17146 Autosomal dominant striatal neurodegeneration skos:exactMatch Orphanet:228169 semapv:UnspecifiedMatching +obo:GARD_17146 Autosomal dominant striatal neurodegeneration skos:narrowMatch OMIM:609161 semapv:UnspecifiedMatching +obo:GARD_17147 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch Orphanet:228179 semapv:UnspecifiedMatching +obo:GARD_17147 Autosomal dominant Charcot-Marie-Tooth disease type 2M skos:narrowMatch OMIM:606482 semapv:UnspecifiedMatching +obo:GARD_17148 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch Orphanet:228190 semapv:UnspecifiedMatching +obo:GARD_17148 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:narrowMatch OMIM:604381 semapv:UnspecifiedMatching +obo:GARD_17149 Carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch Orphanet:228302 semapv:UnspecifiedMatching +obo:GARD_17149 Carnitine palmitoyl transferase II deficiency, myopathic form skos:narrowMatch OMIM:255110 semapv:UnspecifiedMatching +obo:GARD_17150 Carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch Orphanet:228305 semapv:UnspecifiedMatching +obo:GARD_17150 Carnitine palmitoyl transferase II deficiency, severe infantile form skos:narrowMatch OMIM:600649 semapv:UnspecifiedMatching +obo:GARD_17151 Carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch Orphanet:228308 semapv:UnspecifiedMatching +obo:GARD_17151 Carnitine palmitoyl transferase II deficiency, neonatal form skos:narrowMatch OMIM:608836 semapv:UnspecifiedMatching +obo:GARD_17152 CLN8 disease skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching +obo:GARD_17152 CLN8 disease skos:narrowMatch OMIM:600143 semapv:UnspecifiedMatching +obo:GARD_17153 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch Orphanet:228374 semapv:UnspecifiedMatching +obo:GARD_17153 Charcot-Marie-Tooth disease type 2B5 skos:narrowMatch OMIM:607734 semapv:UnspecifiedMatching +obo:GARD_17154 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch Orphanet:228387 semapv:UnspecifiedMatching +obo:GARD_17154 Spondylo-megaepiphyseal-metaphyseal dysplasia skos:narrowMatch OMIM:613330 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:exactMatch Orphanet:229717 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:300310 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:300755 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:601495 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:612692 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613500 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613501 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613502 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:613506 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:615214 semapv:UnspecifiedMatching +obo:GARD_17155 Isolated agammaglobulinemia skos:narrowMatch OMIM:616941 semapv:UnspecifiedMatching +obo:GARD_17156 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch Orphanet:230857 semapv:UnspecifiedMatching +obo:GARD_17156 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:narrowMatch OMIM:619115 semapv:UnspecifiedMatching +obo:GARD_17156 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:narrowMatch OMIM:619120 semapv:UnspecifiedMatching +obo:GARD_17157 Erythema palmare hereditarium skos:exactMatch Orphanet:231031 semapv:UnspecifiedMatching +obo:GARD_17157 Erythema palmare hereditarium skos:narrowMatch OMIM:133000 semapv:UnspecifiedMatching +obo:GARD_17158 Familial generalized lentiginosis skos:exactMatch Orphanet:231040 semapv:UnspecifiedMatching +obo:GARD_17158 Familial generalized lentiginosis skos:narrowMatch OMIM:151001 semapv:UnspecifiedMatching +obo:GARD_17159 Familial rhabdoid tumor skos:exactMatch Orphanet:231108 semapv:UnspecifiedMatching +obo:GARD_17159 Familial rhabdoid tumor skos:narrowMatch OMIM:609322 semapv:UnspecifiedMatching +obo:GARD_17159 Familial rhabdoid tumor skos:narrowMatch OMIM:613325 semapv:UnspecifiedMatching +obo:GARD_17160 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:exactMatch Orphanet:231120 semapv:UnspecifiedMatching +obo:GARD_17160 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:narrowMatch OMIM:130650 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:105800 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:300870 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:608542 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:609122 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:610213 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:611892 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612161 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612162 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612586 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:612587 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:614252 semapv:UnspecifiedMatching +obo:GARD_17161 Familial cerebral saccular aneurysm skos:narrowMatch OMIM:618734 semapv:UnspecifiedMatching +obo:GARD_17162 Beta-thalassemia major skos:exactMatch Orphanet:231214 semapv:UnspecifiedMatching +obo:GARD_17162 Beta-thalassemia major skos:narrowMatch OMIM:613985 semapv:UnspecifiedMatching +obo:GARD_17163 Beta-thalassemia intermedia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching +obo:GARD_17163 Beta-thalassemia intermedia skos:narrowMatch OMIM:613985 semapv:UnspecifiedMatching +obo:GARD_17164 Dominant beta-thalassemia skos:exactMatch Orphanet:231226 semapv:UnspecifiedMatching +obo:GARD_17164 Dominant beta-thalassemia skos:narrowMatch OMIM:603902 semapv:UnspecifiedMatching +obo:GARD_17165 Delta-beta-thalassemia skos:exactMatch Orphanet:231237 semapv:UnspecifiedMatching +obo:GARD_17165 Delta-beta-thalassemia skos:narrowMatch OMIM:141749 semapv:UnspecifiedMatching +obo:GARD_17166 Beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch Orphanet:231393 semapv:UnspecifiedMatching +obo:GARD_17166 Beta-thalassemia-X-linked thrombocytopenia syndrome skos:narrowMatch OMIM:314050 semapv:UnspecifiedMatching +obo:GARD_17167 Alpha-thalassemia-myelodysplastic syndrome skos:exactMatch Orphanet:231401 semapv:UnspecifiedMatching +obo:GARD_17167 Alpha-thalassemia-myelodysplastic syndrome skos:narrowMatch OMIM:300448 semapv:UnspecifiedMatching +obo:GARD_17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching +obo:GARD_17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency skos:narrowMatch OMIM:203300 semapv:UnspecifiedMatching +obo:GARD_17168 Hermansky-Pudlak syndrome due to BLOC-3 deficiency skos:narrowMatch OMIM:614073 semapv:UnspecifiedMatching +obo:GARD_17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +obo:GARD_17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:narrowMatch OMIM:614072 semapv:UnspecifiedMatching +obo:GARD_17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:narrowMatch OMIM:614074 semapv:UnspecifiedMatching +obo:GARD_17169 Hermansky-Pudlak syndrome due to BLOC-2 deficiency skos:narrowMatch OMIM:614075 semapv:UnspecifiedMatching +obo:GARD_17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:exactMatch Orphanet:231531 semapv:UnspecifiedMatching +obo:GARD_17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:614076 semapv:UnspecifiedMatching +obo:GARD_17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:614077 semapv:UnspecifiedMatching +obo:GARD_17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:614171 semapv:UnspecifiedMatching +obo:GARD_17170 Hermansky-Pudlak syndrome due to BLOC-1 deficiency skos:narrowMatch OMIM:619172 semapv:UnspecifiedMatching +obo:GARD_17171 Severe X-linked mitochondrial encephalomyopathy skos:exactMatch Orphanet:238329 semapv:UnspecifiedMatching +obo:GARD_17171 Severe X-linked mitochondrial encephalomyopathy skos:narrowMatch OMIM:300816 semapv:UnspecifiedMatching +obo:GARD_17172 15q11q13 microduplication syndrome skos:exactMatch Orphanet:238446 semapv:UnspecifiedMatching +obo:GARD_17172 15q11q13 microduplication syndrome skos:narrowMatch OMIM:608636 semapv:UnspecifiedMatching +obo:GARD_17173 Familial hypercholanemia skos:exactMatch Orphanet:238475 semapv:UnspecifiedMatching +obo:GARD_17173 Familial hypercholanemia skos:narrowMatch OMIM:607748 semapv:UnspecifiedMatching +obo:GARD_17173 Familial hypercholanemia skos:narrowMatch OMIM:619256 semapv:UnspecifiedMatching +obo:GARD_17174 Combined immunodeficiency due to CD27 deficiency skos:exactMatch Orphanet:238505 semapv:UnspecifiedMatching +obo:GARD_17174 Combined immunodeficiency due to CD27 deficiency skos:narrowMatch OMIM:615122 semapv:UnspecifiedMatching +obo:GARD_17175 Atypical hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching +obo:GARD_17175 Atypical hypotonia-cystinuria syndrome skos:narrowMatch OMIM:606407 semapv:UnspecifiedMatching +obo:GARD_17176 Chuvash erythrocytosis skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching +obo:GARD_17176 Chuvash erythrocytosis skos:narrowMatch OMIM:263400 semapv:UnspecifiedMatching +obo:GARD_17177 Familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch Orphanet:238578 semapv:UnspecifiedMatching +obo:GARD_17177 Familial clubfoot due to 17q23.1q23.2 microduplication skos:narrowMatch OMIM:613618 semapv:UnspecifiedMatching +obo:GARD_17178 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:exactMatch Orphanet:238613 semapv:UnspecifiedMatching +obo:GARD_17178 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:narrowMatch OMIM:130650 semapv:UnspecifiedMatching +obo:GARD_17179 Isolated thyrotropin-releasing hormone deficiency skos:exactMatch Orphanet:238670 semapv:UnspecifiedMatching +obo:GARD_17179 Isolated thyrotropin-releasing hormone deficiency skos:narrowMatch OMIM:275120 semapv:UnspecifiedMatching +obo:GARD_17180 Mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching +obo:GARD_17180 Mammary-digital-nail syndrome skos:narrowMatch OMIM:613689 semapv:UnspecifiedMatching +obo:GARD_17181 4q21 microdeletion syndrome skos:exactMatch Orphanet:238750 semapv:UnspecifiedMatching +obo:GARD_17181 4q21 microdeletion syndrome skos:narrowMatch OMIM:613509 semapv:UnspecifiedMatching +obo:GARD_17182 Classic progressive supranuclear palsy syndrome skos:exactMatch Orphanet:240071 semapv:UnspecifiedMatching +obo:GARD_17182 Classic progressive supranuclear palsy syndrome skos:narrowMatch OMIM:601104 semapv:UnspecifiedMatching +obo:GARD_17182 Classic progressive supranuclear palsy syndrome skos:narrowMatch OMIM:609454 semapv:UnspecifiedMatching +obo:GARD_17182 Classic progressive supranuclear palsy syndrome skos:narrowMatch OMIM:610898 semapv:UnspecifiedMatching +obo:GARD_17183 Progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch Orphanet:240085 semapv:UnspecifiedMatching +obo:GARD_17183 Progressive supranuclear palsy-parkinsonism syndrome skos:narrowMatch OMIM:260540 semapv:UnspecifiedMatching +obo:GARD_17184 Nijmegen breakage syndrome-like disorder skos:exactMatch Orphanet:240760 semapv:UnspecifiedMatching +obo:GARD_17184 Nijmegen breakage syndrome-like disorder skos:narrowMatch OMIM:613078 semapv:UnspecifiedMatching +obo:GARD_17185 Dimethylglycine dehydrogenase deficiency skos:exactMatch Orphanet:243343 semapv:UnspecifiedMatching +obo:GARD_17185 Dimethylglycine dehydrogenase deficiency skos:narrowMatch OMIM:605850 semapv:UnspecifiedMatching +obo:GARD_17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 semapv:UnspecifiedMatching +obo:GARD_17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:narrowMatch OMIM:612286 semapv:UnspecifiedMatching +obo:GARD_17186 Dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:narrowMatch OMIM:612287 semapv:UnspecifiedMatching +obo:GARD_17187 Progressive cerebello-cerebral atrophy skos:exactMatch Orphanet:247198 semapv:UnspecifiedMatching +obo:GARD_17187 Progressive cerebello-cerebral atrophy skos:narrowMatch OMIM:615851 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:239300 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:614207 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:614749 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:615716 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:616025 semapv:UnspecifiedMatching +obo:GARD_17188 Hyperphosphatasia-intellectual disability syndrome skos:narrowMatch OMIM:616809 semapv:UnspecifiedMatching +obo:GARD_17189 Autosomal dominant secondary polycythemia skos:exactMatch Orphanet:247511 semapv:UnspecifiedMatching +obo:GARD_17189 Autosomal dominant secondary polycythemia skos:narrowMatch OMIM:609820 semapv:UnspecifiedMatching +obo:GARD_17189 Autosomal dominant secondary polycythemia skos:narrowMatch OMIM:611783 semapv:UnspecifiedMatching +obo:GARD_17190 Primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:247522 semapv:UnspecifiedMatching +obo:GARD_17190 Primary ciliary dyskinesia-retinitis pigmentosa syndrome skos:narrowMatch OMIM:300455 semapv:UnspecifiedMatching +obo:GARD_17191 Perinatal lethal hypophosphatasia skos:exactMatch Orphanet:247623 semapv:UnspecifiedMatching +obo:GARD_17191 Perinatal lethal hypophosphatasia skos:narrowMatch OMIM:241500 semapv:UnspecifiedMatching +obo:GARD_17192 Infantile hypophosphatasia skos:exactMatch Orphanet:247651 semapv:UnspecifiedMatching +obo:GARD_17192 Infantile hypophosphatasia skos:narrowMatch OMIM:241500 semapv:UnspecifiedMatching +obo:GARD_17193 Adult hypophosphatasia skos:exactMatch Orphanet:247676 semapv:UnspecifiedMatching +obo:GARD_17193 Adult hypophosphatasia skos:narrowMatch OMIM:146300 semapv:UnspecifiedMatching +obo:GARD_17194 Odontohypophosphatasia skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching +obo:GARD_17194 Odontohypophosphatasia skos:narrowMatch OMIM:146300 semapv:UnspecifiedMatching +obo:GARD_17195 Müllerian aplasia and hyperandrogenism skos:exactMatch Orphanet:247768 semapv:UnspecifiedMatching +obo:GARD_17195 Müllerian aplasia and hyperandrogenism skos:narrowMatch OMIM:158330 semapv:UnspecifiedMatching +obo:GARD_17196 Juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch Orphanet:247794 semapv:UnspecifiedMatching +obo:GARD_17196 Juvenile cataract-microcornea-renal glucosuria syndrome skos:narrowMatch OMIM:612018 semapv:UnspecifiedMatching +obo:GARD_17197 APC-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:247806 semapv:UnspecifiedMatching +obo:GARD_17197 APC-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +obo:GARD_17198 Ectodermal dysplasia-syndactyly syndrome skos:exactMatch Orphanet:247820 semapv:UnspecifiedMatching +obo:GARD_17198 Ectodermal dysplasia-syndactyly syndrome skos:narrowMatch OMIM:613573 semapv:UnspecifiedMatching +obo:GARD_17199 Ectodermal dysplasia-cutaneous syndactyly syndrome skos:exactMatch Orphanet:247827 semapv:UnspecifiedMatching +obo:GARD_17199 Ectodermal dysplasia-cutaneous syndactyly syndrome skos:narrowMatch OMIM:613576 semapv:UnspecifiedMatching +obo:GARD_172 Macrocephaly-short stature-paraplegia syndrome skos:exactMatch Orphanet:2427 semapv:UnspecifiedMatching +obo:GARD_17200 Occult macular dystrophy skos:exactMatch Orphanet:247834 semapv:UnspecifiedMatching +obo:GARD_17200 Occult macular dystrophy skos:narrowMatch OMIM:613587 semapv:UnspecifiedMatching +obo:GARD_17201 NLRP12-associated hereditary periodic fever syndrome skos:exactMatch Orphanet:247868 semapv:UnspecifiedMatching +obo:GARD_17201 NLRP12-associated hereditary periodic fever syndrome skos:narrowMatch OMIM:611762 semapv:UnspecifiedMatching +obo:GARD_17202 Familial hypodysfibrinogenemia skos:exactMatch Orphanet:248408 semapv:UnspecifiedMatching +obo:GARD_17202 Familial hypodysfibrinogenemia skos:narrowMatch OMIM:616004 semapv:UnspecifiedMatching +obo:GARD_17203 Autosomal recessive Stickler syndrome skos:exactMatch Orphanet:250984 semapv:UnspecifiedMatching +obo:GARD_17203 Autosomal recessive Stickler syndrome skos:narrowMatch OMIM:614134 semapv:UnspecifiedMatching +obo:GARD_17203 Autosomal recessive Stickler syndrome skos:narrowMatch OMIM:614284 semapv:UnspecifiedMatching +obo:GARD_17204 SATB2-associated syndrome due to a chromosomal rearrangement skos:exactMatch Orphanet:251028 semapv:UnspecifiedMatching +obo:GARD_17204 SATB2-associated syndrome due to a chromosomal rearrangement skos:narrowMatch OMIM:612313 semapv:UnspecifiedMatching +obo:GARD_17205 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:exactMatch Orphanet:251279 semapv:UnspecifiedMatching +obo:GARD_17205 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome skos:narrowMatch OMIM:611040 semapv:UnspecifiedMatching +obo:GARD_17206 Autosomal dominant spastic ataxia type 1 skos:exactMatch Orphanet:251282 semapv:UnspecifiedMatching +obo:GARD_17206 Autosomal dominant spastic ataxia type 1 skos:narrowMatch OMIM:108600 semapv:UnspecifiedMatching +obo:GARD_17207 Parietal foramina with clavicular hypoplasia skos:exactMatch Orphanet:251290 semapv:UnspecifiedMatching +obo:GARD_17207 Parietal foramina with clavicular hypoplasia skos:narrowMatch OMIM:168550 semapv:UnspecifiedMatching +obo:GARD_17208 Pigmented paravenous retinochoroidal atrophy skos:exactMatch Orphanet:251295 semapv:UnspecifiedMatching +obo:GARD_17208 Pigmented paravenous retinochoroidal atrophy skos:narrowMatch OMIM:172870 semapv:UnspecifiedMatching +obo:GARD_17209 Ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 semapv:UnspecifiedMatching +obo:GARD_17209 Ataxia-telangiectasia-like disorder skos:narrowMatch OMIM:604391 semapv:UnspecifiedMatching +obo:GARD_17210 CK syndrome skos:exactMatch Orphanet:251383 semapv:UnspecifiedMatching +obo:GARD_17210 CK syndrome skos:narrowMatch OMIM:300831 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:exactMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:154230 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:300018 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:612965 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:613762 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:615542 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:616067 semapv:UnspecifiedMatching +obo:GARD_17211 46,XY partial gonadal dysgenesis skos:narrowMatch OMIM:616425 semapv:UnspecifiedMatching +obo:GARD_17212 Distal arthrogryposis type 10 skos:exactMatch Orphanet:251515 semapv:UnspecifiedMatching +obo:GARD_17212 Distal arthrogryposis type 10 skos:narrowMatch OMIM:187370 semapv:UnspecifiedMatching +obo:GARD_17213 Hyperzincemia and hypercalprotectinemia skos:exactMatch Orphanet:251523 semapv:UnspecifiedMatching +obo:GARD_17213 Hyperzincemia and hypercalprotectinemia skos:narrowMatch OMIM:194470 semapv:UnspecifiedMatching +obo:GARD_17214 Medulloblastoma with extensive nodularity skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching +obo:GARD_17214 Medulloblastoma with extensive nodularity skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +obo:GARD_17215 Desmoplastic/nodular medulloblastoma skos:exactMatch Orphanet:251863 semapv:UnspecifiedMatching +obo:GARD_17215 Desmoplastic/nodular medulloblastoma skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +obo:GARD_17216 Classic medulloblastoma skos:exactMatch Orphanet:251867 semapv:UnspecifiedMatching +obo:GARD_17216 Classic medulloblastoma skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +obo:GARD_17217 Constitutional mismatch repair deficiency syndrome skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching +obo:GARD_17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:276300 semapv:UnspecifiedMatching +obo:GARD_17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619096 semapv:UnspecifiedMatching +obo:GARD_17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619097 semapv:UnspecifiedMatching +obo:GARD_17217 Constitutional mismatch repair deficiency syndrome skos:narrowMatch OMIM:619101 semapv:UnspecifiedMatching +obo:GARD_17218 Distal 7q11.23 microdeletion syndrome skos:exactMatch Orphanet:254351 semapv:UnspecifiedMatching +obo:GARD_17218 Distal 7q11.23 microdeletion syndrome skos:narrowMatch OMIM:613729 semapv:UnspecifiedMatching +obo:GARD_17219 Kagami-Ogata syndrome skos:exactMatch Orphanet:254519 semapv:UnspecifiedMatching +obo:GARD_17219 Kagami-Ogata syndrome skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +obo:GARD_1722 Erythrokeratoderma ''en cocardes'' skos:exactMatch Orphanet:315 semapv:UnspecifiedMatching +obo:GARD_17220 Temple syndrome due to paternal 14q32.2 microdeletion skos:exactMatch Orphanet:254525 semapv:UnspecifiedMatching +obo:GARD_17220 Temple syndrome due to paternal 14q32.2 microdeletion skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +obo:GARD_17221 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion skos:exactMatch Orphanet:254528 semapv:UnspecifiedMatching +obo:GARD_17221 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +obo:GARD_17222 Temple syndrome due to paternal 14q32.2 hypomethylation skos:exactMatch Orphanet:254531 semapv:UnspecifiedMatching +obo:GARD_17222 Temple syndrome due to paternal 14q32.2 hypomethylation skos:narrowMatch OMIM:616222 semapv:UnspecifiedMatching +obo:GARD_17223 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation skos:exactMatch Orphanet:254534 semapv:UnspecifiedMatching +obo:GARD_17223 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +obo:GARD_17224 Complete hydatidiform mole skos:exactMatch Orphanet:254688 semapv:UnspecifiedMatching +obo:GARD_17224 Complete hydatidiform mole skos:narrowMatch OMIM:231090 semapv:UnspecifiedMatching +obo:GARD_17224 Complete hydatidiform mole skos:narrowMatch OMIM:614293 semapv:UnspecifiedMatching +obo:GARD_17224 Complete hydatidiform mole skos:narrowMatch OMIM:618431 semapv:UnspecifiedMatching +obo:GARD_17224 Complete hydatidiform mole skos:narrowMatch OMIM:618432 semapv:UnspecifiedMatching +obo:GARD_17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching +obo:GARD_17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form skos:narrowMatch OMIM:612073 semapv:UnspecifiedMatching +obo:GARD_17225 Mitochondrial DNA depletion syndrome, encephalomyopathic form skos:narrowMatch OMIM:612075 semapv:UnspecifiedMatching +obo:GARD_17226 Lethal infantile mitochondrial myopathy skos:exactMatch Orphanet:254857 semapv:UnspecifiedMatching +obo:GARD_17226 Lethal infantile mitochondrial myopathy skos:narrowMatch OMIM:551000 semapv:UnspecifiedMatching +obo:GARD_17227 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch Orphanet:254864 semapv:UnspecifiedMatching +obo:GARD_17227 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:narrowMatch OMIM:500009 semapv:UnspecifiedMatching +obo:GARD_17228 Mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch Orphanet:254875 semapv:UnspecifiedMatching +obo:GARD_17228 Mitochondrial DNA depletion syndrome, myopathic form skos:narrowMatch OMIM:609560 semapv:UnspecifiedMatching +obo:GARD_17228 Mitochondrial DNA depletion syndrome, myopathic form skos:narrowMatch OMIM:618972 semapv:UnspecifiedMatching +obo:GARD_17229 Spinocerebellar ataxia with epilepsy skos:exactMatch Orphanet:254881 semapv:UnspecifiedMatching +obo:GARD_17229 Spinocerebellar ataxia with epilepsy skos:narrowMatch OMIM:607459 semapv:UnspecifiedMatching +obo:GARD_17230 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch Orphanet:254898 semapv:UnspecifiedMatching +obo:GARD_17230 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:narrowMatch OMIM:614651 semapv:UnspecifiedMatching +obo:GARD_17231 Renal tubulopathy-encephalopathy-liver failure syndrome skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching +obo:GARD_17231 Renal tubulopathy-encephalopathy-liver failure syndrome skos:narrowMatch OMIM:124000 semapv:UnspecifiedMatching +obo:GARD_17232 Combined oxidative phosphorylation defect type 2 skos:exactMatch Orphanet:254920 semapv:UnspecifiedMatching +obo:GARD_17232 Combined oxidative phosphorylation defect type 2 skos:narrowMatch OMIM:610498 semapv:UnspecifiedMatching +obo:GARD_17233 Combined oxidative phosphorylation defect type 4 skos:exactMatch Orphanet:254925 semapv:UnspecifiedMatching +obo:GARD_17233 Combined oxidative phosphorylation defect type 4 skos:narrowMatch OMIM:610678 semapv:UnspecifiedMatching +obo:GARD_17234 Combined oxidative phosphorylation defect type 7 skos:exactMatch Orphanet:254930 semapv:UnspecifiedMatching +obo:GARD_17234 Combined oxidative phosphorylation defect type 7 skos:narrowMatch OMIM:613559 semapv:UnspecifiedMatching +obo:GARD_17235 Adult-onset autosomal recessive sideroblastic anemia skos:exactMatch Orphanet:255132 semapv:UnspecifiedMatching +obo:GARD_17235 Adult-onset autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:616860 semapv:UnspecifiedMatching +obo:GARD_17236 Pyruvate dehydrogenase E1-beta deficiency skos:exactMatch Orphanet:255138 semapv:UnspecifiedMatching +obo:GARD_17236 Pyruvate dehydrogenase E1-beta deficiency skos:narrowMatch OMIM:614111 semapv:UnspecifiedMatching +obo:GARD_17237 Pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch Orphanet:255182 semapv:UnspecifiedMatching +obo:GARD_17237 Pyruvate dehydrogenase E3-binding protein deficiency skos:narrowMatch OMIM:245349 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:252010 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:616277 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618222 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618224 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618225 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618226 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618228 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618229 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618230 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618233 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618235 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618239 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618240 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618241 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618243 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618244 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618248 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618249 semapv:UnspecifiedMatching +obo:GARD_17238 Leigh syndrome with leukodystrophy skos:narrowMatch OMIM:618257 semapv:UnspecifiedMatching +obo:GARD_17239 Leigh syndrome with nephrotic syndrome skos:exactMatch Orphanet:255249 semapv:UnspecifiedMatching +obo:GARD_17239 Leigh syndrome with nephrotic syndrome skos:narrowMatch OMIM:607426 semapv:UnspecifiedMatching +obo:GARD_17239 Leigh syndrome with nephrotic syndrome skos:narrowMatch OMIM:614652 semapv:UnspecifiedMatching +obo:GARD_17240 Autosomal recessive sideroblastic anemia skos:exactMatch Orphanet:260305 semapv:UnspecifiedMatching +obo:GARD_17240 Autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:182170 semapv:UnspecifiedMatching +obo:GARD_17240 Autosomal recessive sideroblastic anemia skos:narrowMatch OMIM:205950 semapv:UnspecifiedMatching +obo:GARD_17241 14q11.2 microdeletion syndrome skos:exactMatch Orphanet:261120 semapv:UnspecifiedMatching +obo:GARD_17241 14q11.2 microdeletion syndrome skos:narrowMatch OMIM:613457 semapv:UnspecifiedMatching +obo:GARD_17242 15q14 microdeletion syndrome skos:exactMatch Orphanet:261190 semapv:UnspecifiedMatching +obo:GARD_17242 15q14 microdeletion syndrome skos:narrowMatch OMIM:616898 semapv:UnspecifiedMatching +obo:GARD_17243 16p11.2p12.2 microdeletion syndrome skos:exactMatch Orphanet:261211 semapv:UnspecifiedMatching +obo:GARD_17243 16p11.2p12.2 microdeletion syndrome skos:narrowMatch OMIM:613604 semapv:UnspecifiedMatching +obo:GARD_17244 Distal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261222 semapv:UnspecifiedMatching +obo:GARD_17244 Distal 16p11.2 microdeletion syndrome skos:narrowMatch OMIM:613444 semapv:UnspecifiedMatching +obo:GARD_17245 Distal 22q11.2 microdeletion syndrome skos:exactMatch Orphanet:261330 semapv:UnspecifiedMatching +obo:GARD_17245 Distal 22q11.2 microdeletion syndrome skos:narrowMatch OMIM:611867 semapv:UnspecifiedMatching +obo:GARD_17246 Xp21 deletion syndrome skos:exactMatch Orphanet:261476 semapv:UnspecifiedMatching +obo:GARD_17246 Xp21 deletion syndrome skos:narrowMatch OMIM:300679 semapv:UnspecifiedMatching +obo:GARD_17247 Xq27.3q28 duplication syndrome skos:exactMatch Orphanet:261483 semapv:UnspecifiedMatching +obo:GARD_17247 Xq27.3q28 duplication syndrome skos:narrowMatch OMIM:300869 semapv:UnspecifiedMatching +obo:GARD_17248 Mowat-Wilson syndrome due to monosomy 2q22 skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching +obo:GARD_17248 Mowat-Wilson syndrome due to monosomy 2q22 skos:narrowMatch OMIM:235730 semapv:UnspecifiedMatching +obo:GARD_17249 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:exactMatch Orphanet:261552 semapv:UnspecifiedMatching +obo:GARD_17249 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:narrowMatch OMIM:235730 semapv:UnspecifiedMatching +obo:GARD_17250 Alagille syndrome due to 20p12 microdeletion skos:exactMatch Orphanet:261600 semapv:UnspecifiedMatching +obo:GARD_17250 Alagille syndrome due to 20p12 microdeletion skos:narrowMatch OMIM:118450 semapv:UnspecifiedMatching +obo:GARD_17251 Alagille syndrome due to a JAG1 point mutation skos:exactMatch Orphanet:261619 semapv:UnspecifiedMatching +obo:GARD_17251 Alagille syndrome due to a JAG1 point mutation skos:narrowMatch OMIM:118450 semapv:UnspecifiedMatching +obo:GARD_17252 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch Orphanet:261629 semapv:UnspecifiedMatching +obo:GARD_17252 Alagille syndrome due to a NOTCH2 point mutation skos:narrowMatch OMIM:610205 semapv:UnspecifiedMatching +obo:GARD_17253 Kleefstra syndrome due to a point mutation skos:exactMatch Orphanet:261652 semapv:UnspecifiedMatching +obo:GARD_17253 Kleefstra syndrome due to a point mutation skos:narrowMatch OMIM:610253 semapv:UnspecifiedMatching +obo:GARD_17253 Kleefstra syndrome due to a point mutation skos:narrowMatch OMIM:617768 semapv:UnspecifiedMatching +obo:GARD_17254 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency skos:exactMatch Orphanet:263297 semapv:UnspecifiedMatching +obo:GARD_17254 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency skos:narrowMatch OMIM:613507 semapv:UnspecifiedMatching +obo:GARD_17255 MRCS syndrome skos:exactMatch Orphanet:263347 semapv:UnspecifiedMatching +obo:GARD_17255 MRCS syndrome skos:narrowMatch OMIM:193220 semapv:UnspecifiedMatching +obo:GARD_17255 MRCS syndrome skos:narrowMatch OMIM:619082 semapv:UnspecifiedMatching +obo:GARD_17256 Hyperinsulinism due to INSR deficiency skos:exactMatch Orphanet:263458 semapv:UnspecifiedMatching +obo:GARD_17256 Hyperinsulinism due to INSR deficiency skos:narrowMatch OMIM:609968 semapv:UnspecifiedMatching +obo:GARD_17257 Acute necrotizing encephalopathy of childhood skos:exactMatch Orphanet:263524 semapv:UnspecifiedMatching +obo:GARD_17257 Acute necrotizing encephalopathy of childhood skos:narrowMatch OMIM:614212 semapv:UnspecifiedMatching +obo:GARD_17258 Peeling skin syndrome type A skos:exactMatch Orphanet:263548 semapv:UnspecifiedMatching +obo:GARD_17258 Peeling skin syndrome type A skos:narrowMatch OMIM:616265 semapv:UnspecifiedMatching +obo:GARD_17258 Peeling skin syndrome type A skos:narrowMatch OMIM:618084 semapv:UnspecifiedMatching +obo:GARD_17259 Peeling skin syndrome type B skos:exactMatch Orphanet:263553 semapv:UnspecifiedMatching +obo:GARD_17259 Peeling skin syndrome type B skos:narrowMatch OMIM:270300 semapv:UnspecifiedMatching +obo:GARD_17260 Familial multiple meningioma skos:exactMatch Orphanet:263662 semapv:UnspecifiedMatching +obo:GARD_17260 Familial multiple meningioma skos:narrowMatch OMIM:607174 semapv:UnspecifiedMatching +obo:GARD_17261 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching +obo:GARD_17261 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:narrowMatch OMIM:306000 semapv:UnspecifiedMatching +obo:GARD_17261 Glycogen storage disease due to liver phosphorylase kinase deficiency skos:narrowMatch OMIM:613027 semapv:UnspecifiedMatching +obo:GARD_17262 RAS-associated autoimmune leukoproliferative disease skos:exactMatch Orphanet:268114 semapv:UnspecifiedMatching +obo:GARD_17262 RAS-associated autoimmune leukoproliferative disease skos:narrowMatch OMIM:614470 semapv:UnspecifiedMatching +obo:GARD_17263 Classic maple syrup urine disease skos:exactMatch Orphanet:268145 semapv:UnspecifiedMatching +obo:GARD_17263 Classic maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +obo:GARD_17264 Intermediate maple syrup urine disease skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching +obo:GARD_17264 Intermediate maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +obo:GARD_17264 Intermediate maple syrup urine disease skos:narrowMatch OMIM:615135 semapv:UnspecifiedMatching +obo:GARD_17265 Intermittent maple syrup urine disease skos:exactMatch Orphanet:268173 semapv:UnspecifiedMatching +obo:GARD_17265 Intermittent maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +obo:GARD_17266 Thiamine-responsive maple syrup urine disease skos:exactMatch Orphanet:268184 semapv:UnspecifiedMatching +obo:GARD_17266 Thiamine-responsive maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +obo:GARD_17267 Hereditary thrombocytopenia with normal platelets skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching +obo:GARD_17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:188000 semapv:UnspecifiedMatching +obo:GARD_17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:273900 semapv:UnspecifiedMatching +obo:GARD_17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:313900 semapv:UnspecifiedMatching +obo:GARD_17267 Hereditary thrombocytopenia with normal platelets skos:narrowMatch OMIM:612004 semapv:UnspecifiedMatching +obo:GARD_17268 Neural tube closure defect skos:exactMatch Orphanet:268357 semapv:UnspecifiedMatching +obo:GARD_17268 Neural tube closure defect skos:narrowMatch OMIM:182940 semapv:UnspecifiedMatching +obo:GARD_17268 Neural tube closure defect skos:narrowMatch OMIM:301410 semapv:UnspecifiedMatching +obo:GARD_17268 Neural tube closure defect skos:narrowMatch OMIM:601634 semapv:UnspecifiedMatching +obo:GARD_17269 Bilateral polymicrogyria skos:exactMatch Orphanet:268940 semapv:UnspecifiedMatching +obo:GARD_17269 Bilateral polymicrogyria skos:narrowMatch OMIM:300388 semapv:UnspecifiedMatching +obo:GARD_17269 Bilateral polymicrogyria skos:narrowMatch OMIM:606854 semapv:UnspecifiedMatching +obo:GARD_17269 Bilateral polymicrogyria skos:narrowMatch OMIM:612691 semapv:UnspecifiedMatching +obo:GARD_17269 Bilateral polymicrogyria skos:narrowMatch OMIM:615752 semapv:UnspecifiedMatching +obo:GARD_17269 Bilateral polymicrogyria skos:narrowMatch OMIM:616531 semapv:UnspecifiedMatching +obo:GARD_1727 Delayed membranous cranial ossification skos:exactMatch Orphanet:3034 semapv:UnspecifiedMatching +obo:GARD_1727 Delayed membranous cranial ossification skos:narrowMatch OMIM:155980 semapv:UnspecifiedMatching +obo:GARD_17270 Isolated focal cortical dysplasia type IIa skos:exactMatch Orphanet:269001 semapv:UnspecifiedMatching +obo:GARD_17270 Isolated focal cortical dysplasia type IIa skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +obo:GARD_17271 Isolated focal cortical dysplasia type IIb skos:exactMatch Orphanet:269008 semapv:UnspecifiedMatching +obo:GARD_17271 Isolated focal cortical dysplasia type IIb skos:narrowMatch OMIM:607341 semapv:UnspecifiedMatching +obo:GARD_17272 Congenital non-communicating hydrocephalus skos:exactMatch Orphanet:269510 semapv:UnspecifiedMatching +obo:GARD_17272 Congenital non-communicating hydrocephalus skos:narrowMatch OMIM:236600 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:105550 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:608030 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:612069 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:613954 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:615911 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:616437 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:616439 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:619133 semapv:UnspecifiedMatching +obo:GARD_17273 Frontotemporal dementia with motor neuron disease skos:narrowMatch OMIM:619141 semapv:UnspecifiedMatching +obo:GARD_17274 Benign epithelial tumor of salivary glands skos:exactMatch Orphanet:276148 semapv:UnspecifiedMatching +obo:GARD_17274 Benign epithelial tumor of salivary glands skos:narrowMatch OMIM:181030 semapv:UnspecifiedMatching +obo:GARD_17275 Multiple endocrine neoplasia type 4 skos:exactMatch Orphanet:276152 semapv:UnspecifiedMatching +obo:GARD_17275 Multiple endocrine neoplasia type 4 skos:narrowMatch OMIM:610755 semapv:UnspecifiedMatching +obo:GARD_17276 Spinocerebellar ataxia type 32 skos:exactMatch Orphanet:276183 semapv:UnspecifiedMatching +obo:GARD_17276 Spinocerebellar ataxia type 32 skos:narrowMatch OMIM:613909 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:606766 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:612997 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:614822 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617576 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617592 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617593 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:617965 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618152 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618153 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618429 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618433 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618643 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618664 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618670 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618745 semapv:UnspecifiedMatching +obo:GARD_17277 Non-syndromic male infertility due to sperm motility disorder skos:narrowMatch OMIM:618751 semapv:UnspecifiedMatching +obo:GARD_17278 Familial multinodular goiter skos:exactMatch Orphanet:276399 semapv:UnspecifiedMatching +obo:GARD_17278 Familial multinodular goiter skos:narrowMatch OMIM:138800 semapv:UnspecifiedMatching +obo:GARD_17279 Hyperbiliverdinemia skos:exactMatch Orphanet:276405 semapv:UnspecifiedMatching +obo:GARD_17279 Hyperbiliverdinemia skos:narrowMatch OMIM:614156 semapv:UnspecifiedMatching +obo:GARD_17280 10q22.3q23.3 microdeletion syndrome skos:exactMatch Orphanet:276413 semapv:UnspecifiedMatching +obo:GARD_17280 10q22.3q23.3 microdeletion syndrome skos:narrowMatch OMIM:612242 semapv:UnspecifiedMatching +obo:GARD_17281 Ogden syndrome skos:exactMatch Orphanet:276432 semapv:UnspecifiedMatching +obo:GARD_17281 Ogden syndrome skos:narrowMatch OMIM:300855 semapv:UnspecifiedMatching +obo:GARD_17282 Lower motor neuron syndrome with late-adult onset skos:exactMatch Orphanet:276435 semapv:UnspecifiedMatching +obo:GARD_17282 Lower motor neuron syndrome with late-adult onset skos:narrowMatch OMIM:615048 semapv:UnspecifiedMatching +obo:GARD_17283 Autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276575 semapv:UnspecifiedMatching +obo:GARD_17283 Autosomal dominant hyperinsulinism due to SUR1 deficiency skos:narrowMatch OMIM:256450 semapv:UnspecifiedMatching +obo:GARD_17284 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276580 semapv:UnspecifiedMatching +obo:GARD_17284 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:narrowMatch OMIM:601820 semapv:UnspecifiedMatching +obo:GARD_17285 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276598 semapv:UnspecifiedMatching +obo:GARD_17285 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:narrowMatch OMIM:256450 semapv:UnspecifiedMatching +obo:GARD_17286 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching +obo:GARD_17286 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:narrowMatch OMIM:601820 semapv:UnspecifiedMatching +obo:GARD_17287 Hereditary neutrophilia skos:exactMatch Orphanet:279943 semapv:UnspecifiedMatching +obo:GARD_17287 Hereditary neutrophilia skos:narrowMatch OMIM:162830 semapv:UnspecifiedMatching +obo:GARD_17288 Severe combined immunodeficiency due to LCK deficiency skos:exactMatch Orphanet:280142 semapv:UnspecifiedMatching +obo:GARD_17288 Severe combined immunodeficiency due to LCK deficiency skos:narrowMatch OMIM:615758 semapv:UnspecifiedMatching +obo:GARD_17289 Septopreoptic holoprosencephaly skos:exactMatch Orphanet:280195 semapv:UnspecifiedMatching +obo:GARD_17289 Septopreoptic holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_17289 Septopreoptic holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_17289 Septopreoptic holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_17290 Microform holoprosencephaly skos:exactMatch Orphanet:280200 semapv:UnspecifiedMatching +obo:GARD_17290 Microform holoprosencephaly skos:narrowMatch OMIM:147250 semapv:UnspecifiedMatching +obo:GARD_17290 Microform holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_17290 Microform holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_17290 Microform holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_17291 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch Orphanet:280210 semapv:UnspecifiedMatching +obo:GARD_17291 Pelizaeus-Merzbacher disease, connatal form skos:narrowMatch OMIM:312080 semapv:UnspecifiedMatching +obo:GARD_17292 Null syndrome skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching +obo:GARD_17292 Null syndrome skos:narrowMatch OMIM:312080 semapv:UnspecifiedMatching +obo:GARD_17293 Pelizaeus-Merzbacher-like disease due to GJC2 mutation skos:exactMatch Orphanet:280282 semapv:UnspecifiedMatching +obo:GARD_17293 Pelizaeus-Merzbacher-like disease due to GJC2 mutation skos:narrowMatch OMIM:608804 semapv:UnspecifiedMatching +obo:GARD_17294 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation skos:exactMatch Orphanet:280288 semapv:UnspecifiedMatching +obo:GARD_17294 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation skos:narrowMatch OMIM:612233 semapv:UnspecifiedMatching +obo:GARD_17295 Familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching +obo:GARD_17295 Familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:narrowMatch OMIM:614650 semapv:UnspecifiedMatching +obo:GARD_17296 Fatal infantile hypertonic myofibrillar myopathy skos:exactMatch Orphanet:280553 semapv:UnspecifiedMatching +obo:GARD_17296 Fatal infantile hypertonic myofibrillar myopathy skos:narrowMatch OMIM:613869 semapv:UnspecifiedMatching +obo:GARD_17297 Hemoglobinopathy Toms River skos:exactMatch Orphanet:280615 semapv:UnspecifiedMatching +obo:GARD_17297 Hemoglobinopathy Toms River skos:narrowMatch OMIM:613977 semapv:UnspecifiedMatching +obo:GARD_17298 Familial progressive hyper- and hypopigmentation skos:exactMatch Orphanet:280628 semapv:UnspecifiedMatching +obo:GARD_17298 Familial progressive hyper- and hypopigmentation skos:narrowMatch OMIM:145250 semapv:UnspecifiedMatching +obo:GARD_17299 Occipital pachygyria and polymicrogyria skos:exactMatch Orphanet:280640 semapv:UnspecifiedMatching +obo:GARD_17299 Occipital pachygyria and polymicrogyria skos:narrowMatch OMIM:614115 semapv:UnspecifiedMatching +obo:GARD_17300 Acrodysostosis with multiple hormone resistance skos:exactMatch Orphanet:280651 semapv:UnspecifiedMatching +obo:GARD_17300 Acrodysostosis with multiple hormone resistance skos:narrowMatch OMIM:101800 semapv:UnspecifiedMatching +obo:GARD_17300 Acrodysostosis with multiple hormone resistance skos:narrowMatch OMIM:614613 semapv:UnspecifiedMatching +obo:GARD_17301 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:280679 semapv:UnspecifiedMatching +obo:GARD_17301 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:narrowMatch OMIM:300845 semapv:UnspecifiedMatching +obo:GARD_17302 Syndromic recessive X-linked ichthyosis skos:exactMatch Orphanet:281090 semapv:UnspecifiedMatching +obo:GARD_17302 Syndromic recessive X-linked ichthyosis skos:narrowMatch OMIM:308100 semapv:UnspecifiedMatching +obo:GARD_17303 Self-improving collodion baby skos:exactMatch Orphanet:281122 semapv:UnspecifiedMatching +obo:GARD_17303 Self-improving collodion baby skos:narrowMatch OMIM:242100 semapv:UnspecifiedMatching +obo:GARD_17303 Self-improving collodion baby skos:narrowMatch OMIM:242300 semapv:UnspecifiedMatching +obo:GARD_17303 Self-improving collodion baby skos:narrowMatch OMIM:606545 semapv:UnspecifiedMatching +obo:GARD_17304 Annular epidermolytic ichthyosis skos:exactMatch Orphanet:281139 semapv:UnspecifiedMatching +obo:GARD_17304 Annular epidermolytic ichthyosis skos:narrowMatch OMIM:607602 semapv:UnspecifiedMatching +obo:GARD_17305 Congenital reticular ichthyosiform erythroderma skos:exactMatch Orphanet:281190 semapv:UnspecifiedMatching +obo:GARD_17305 Congenital reticular ichthyosiform erythroderma skos:narrowMatch OMIM:609165 semapv:UnspecifiedMatching +obo:GARD_17306 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch Orphanet:281201 semapv:UnspecifiedMatching +obo:GARD_17306 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:narrowMatch OMIM:601952 semapv:UnspecifiedMatching +obo:GARD_17307 Inherited Creutzfeldt-Jakob disease skos:exactMatch Orphanet:282166 semapv:UnspecifiedMatching +obo:GARD_17307 Inherited Creutzfeldt-Jakob disease skos:narrowMatch OMIM:123400 semapv:UnspecifiedMatching +obo:GARD_17308 Larsen-like syndrome, B3GAT3 type skos:exactMatch Orphanet:284139 semapv:UnspecifiedMatching +obo:GARD_17308 Larsen-like syndrome, B3GAT3 type skos:narrowMatch OMIM:245600 semapv:UnspecifiedMatching +obo:GARD_17309 Craniosynostosis-dental anomalies skos:exactMatch Orphanet:284149 semapv:UnspecifiedMatching +obo:GARD_17309 Craniosynostosis-dental anomalies skos:narrowMatch OMIM:614188 semapv:UnspecifiedMatching +obo:GARD_17310 8q21.11 microdeletion syndrome skos:exactMatch Orphanet:284160 semapv:UnspecifiedMatching +obo:GARD_17310 8q21.11 microdeletion syndrome skos:narrowMatch OMIM:614230 semapv:UnspecifiedMatching +obo:GARD_17311 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 semapv:UnspecifiedMatching +obo:GARD_17311 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion skos:narrowMatch OMIM:616708 semapv:UnspecifiedMatching +obo:GARD_17312 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome skos:exactMatch Orphanet:284271 semapv:UnspecifiedMatching +obo:GARD_17312 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome skos:narrowMatch OMIM:614229 semapv:UnspecifiedMatching +obo:GARD_17313 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency skos:exactMatch Orphanet:284282 semapv:UnspecifiedMatching +obo:GARD_17313 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency skos:narrowMatch OMIM:614322 semapv:UnspecifiedMatching +obo:GARD_17314 Adult-onset autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:284289 semapv:UnspecifiedMatching +obo:GARD_17314 Adult-onset autosomal recessive cerebellar ataxia skos:narrowMatch OMIM:613728 semapv:UnspecifiedMatching +obo:GARD_17315 Pontocerebellar hypoplasia type 7 skos:exactMatch Orphanet:284339 semapv:UnspecifiedMatching +obo:GARD_17315 Pontocerebellar hypoplasia type 7 skos:narrowMatch OMIM:614969 semapv:UnspecifiedMatching +obo:GARD_17316 Glycerol kinase deficiency, juvenile form skos:exactMatch Orphanet:284411 semapv:UnspecifiedMatching +obo:GARD_17316 Glycerol kinase deficiency, juvenile form skos:narrowMatch OMIM:307030 semapv:UnspecifiedMatching +obo:GARD_17317 Glycerol kinase deficiency, adult form skos:exactMatch Orphanet:284414 semapv:UnspecifiedMatching +obo:GARD_17317 Glycerol kinase deficiency, adult form skos:narrowMatch OMIM:307030 semapv:UnspecifiedMatching +obo:GARD_17318 Marfan syndrome type 2 skos:exactMatch Orphanet:284973 semapv:UnspecifiedMatching +obo:GARD_17318 Marfan syndrome type 2 skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +obo:GARD_17319 Hypocalcemic vitamin D-dependent rickets skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching +obo:GARD_17319 Hypocalcemic vitamin D-dependent rickets skos:narrowMatch OMIM:264700 semapv:UnspecifiedMatching +obo:GARD_17319 Hypocalcemic vitamin D-dependent rickets skos:narrowMatch OMIM:600081 semapv:UnspecifiedMatching +obo:GARD_17320 Autosomal recessive hypophosphatemic rickets skos:exactMatch Orphanet:289176 semapv:UnspecifiedMatching +obo:GARD_17320 Autosomal recessive hypophosphatemic rickets skos:narrowMatch OMIM:241520 semapv:UnspecifiedMatching +obo:GARD_17320 Autosomal recessive hypophosphatemic rickets skos:narrowMatch OMIM:613312 semapv:UnspecifiedMatching +obo:GARD_17321 Hypermethioninemia encephalopathy due to adenosine kinase deficiency skos:exactMatch Orphanet:289290 semapv:UnspecifiedMatching +obo:GARD_17321 Hypermethioninemia encephalopathy due to adenosine kinase deficiency skos:narrowMatch OMIM:614300 semapv:UnspecifiedMatching +obo:GARD_17322 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 semapv:UnspecifiedMatching +obo:GARD_17322 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency skos:narrowMatch OMIM:614105 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:exactMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:193000 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:610878 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:613674 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:614317 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:614318 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:614319 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:615390 semapv:UnspecifiedMatching +obo:GARD_17323 Familial vesicoureteral reflux skos:narrowMatch OMIM:615963 semapv:UnspecifiedMatching +obo:GARD_17324 Early-onset myopathy with fatal cardiomyopathy skos:exactMatch Orphanet:289377 semapv:UnspecifiedMatching +obo:GARD_17324 Early-onset myopathy with fatal cardiomyopathy skos:narrowMatch OMIM:611705 semapv:UnspecifiedMatching +obo:GARD_17325 Myosclerosis skos:exactMatch Orphanet:289380 semapv:UnspecifiedMatching +obo:GARD_17325 Myosclerosis skos:narrowMatch OMIM:255600 semapv:UnspecifiedMatching +obo:GARD_17326 Intellectual disability-alacrima-achalasia syndrome skos:exactMatch Orphanet:289483 semapv:UnspecifiedMatching +obo:GARD_17326 Intellectual disability-alacrima-achalasia syndrome skos:narrowMatch OMIM:300858 semapv:UnspecifiedMatching +obo:GARD_17327 Congenital cataract microcornea with corneal opacity skos:exactMatch Orphanet:289499 semapv:UnspecifiedMatching +obo:GARD_17327 Congenital cataract microcornea with corneal opacity skos:narrowMatch OMIM:269400 semapv:UnspecifiedMatching +obo:GARD_17328 Dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch Orphanet:289553 semapv:UnspecifiedMatching +obo:GARD_17328 Dysmorphism-conductive hearing loss-heart defect syndrome skos:narrowMatch OMIM:615102 semapv:UnspecifiedMatching +obo:GARD_17329 Exfoliative ichthyosis skos:exactMatch Orphanet:289586 semapv:UnspecifiedMatching +obo:GARD_17329 Exfoliative ichthyosis skos:narrowMatch OMIM:607936 semapv:UnspecifiedMatching +obo:GARD_17329 Exfoliative ichthyosis skos:narrowMatch OMIM:617115 semapv:UnspecifiedMatching +obo:GARD_17330 Glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch Orphanet:289846 semapv:UnspecifiedMatching +obo:GARD_17330 Glutathione synthetase deficiency with 5-oxoprolinuria skos:narrowMatch OMIM:266130 semapv:UnspecifiedMatching +obo:GARD_17331 Glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch Orphanet:289849 semapv:UnspecifiedMatching +obo:GARD_17331 Glutathione synthetase deficiency without 5-oxoprolinuria skos:narrowMatch OMIM:231900 semapv:UnspecifiedMatching +obo:GARD_17332 Neonatal glycine encephalopathy skos:exactMatch Orphanet:289857 semapv:UnspecifiedMatching +obo:GARD_17332 Neonatal glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +obo:GARD_17333 Infantile glycine encephalopathy skos:exactMatch Orphanet:289860 semapv:UnspecifiedMatching +obo:GARD_17333 Infantile glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +obo:GARD_17334 Atypical glycine encephalopathy skos:exactMatch Orphanet:289863 semapv:UnspecifiedMatching +obo:GARD_17334 Atypical glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +obo:GARD_17334 Atypical glycine encephalopathy skos:narrowMatch OMIM:617301 semapv:UnspecifiedMatching +obo:GARD_17335 Vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch Orphanet:289916 semapv:UnspecifiedMatching +obo:GARD_17335 Vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:narrowMatch OMIM:251000 semapv:UnspecifiedMatching +obo:GARD_17336 Familial clubfoot due to 5q31 microdeletion skos:exactMatch Orphanet:293144 semapv:UnspecifiedMatching +obo:GARD_17336 Familial clubfoot due to 5q31 microdeletion skos:narrowMatch OMIM:119800 semapv:UnspecifiedMatching +obo:GARD_17337 Familial clubfoot due to PITX1 point mutation skos:exactMatch Orphanet:293150 semapv:UnspecifiedMatching +obo:GARD_17337 Familial clubfoot due to PITX1 point mutation skos:narrowMatch OMIM:119800 semapv:UnspecifiedMatching +obo:GARD_17338 Epithelial recurrent erosion dystrophy skos:exactMatch Orphanet:293381 semapv:UnspecifiedMatching +obo:GARD_17338 Epithelial recurrent erosion dystrophy skos:narrowMatch OMIM:122400 semapv:UnspecifiedMatching +obo:GARD_17339 X-linked endothelial corneal dystrophy skos:exactMatch Orphanet:293621 semapv:UnspecifiedMatching +obo:GARD_17339 X-linked endothelial corneal dystrophy skos:narrowMatch OMIM:300779 semapv:UnspecifiedMatching +obo:GARD_17340 PYCR1-related De Barsy syndrome skos:exactMatch Orphanet:293633 semapv:UnspecifiedMatching +obo:GARD_17340 PYCR1-related De Barsy syndrome skos:narrowMatch OMIM:614438 semapv:UnspecifiedMatching +obo:GARD_17341 Blepharophimosis-intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 semapv:UnspecifiedMatching +obo:GARD_17341 Blepharophimosis-intellectual disability syndrome, MKB type skos:narrowMatch OMIM:300895 semapv:UnspecifiedMatching +obo:GARD_17342 Blepharophimosis-intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 semapv:UnspecifiedMatching +obo:GARD_17342 Blepharophimosis-intellectual disability syndrome, Verloes type skos:narrowMatch OMIM:604314 semapv:UnspecifiedMatching +obo:GARD_17343 MITF-related melanoma and renal cell carcinoma predisposition syndrome skos:exactMatch Orphanet:293822 semapv:UnspecifiedMatching +obo:GARD_17343 MITF-related melanoma and renal cell carcinoma predisposition syndrome skos:narrowMatch OMIM:614456 semapv:UnspecifiedMatching +obo:GARD_17344 Congenital dyserythropoietic anemia type IV skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching +obo:GARD_17344 Congenital dyserythropoietic anemia type IV skos:narrowMatch OMIM:613673 semapv:UnspecifiedMatching +obo:GARD_17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch Orphanet:293888 semapv:UnspecifiedMatching +obo:GARD_17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +obo:GARD_17345 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +obo:GARD_17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch Orphanet:293899 semapv:UnspecifiedMatching +obo:GARD_17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +obo:GARD_17346 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +obo:GARD_17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching +obo:GARD_17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +obo:GARD_17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:600996 semapv:UnspecifiedMatching +obo:GARD_17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:610193 semapv:UnspecifiedMatching +obo:GARD_17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:615616 semapv:UnspecifiedMatching +obo:GARD_17347 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:narrowMatch OMIM:618920 semapv:UnspecifiedMatching +obo:GARD_17348 Lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch Orphanet:293925 semapv:UnspecifiedMatching +obo:GARD_17348 Lethal occipital encephalocele-skeletal dysplasia syndrome skos:narrowMatch OMIM:614416 semapv:UnspecifiedMatching +obo:GARD_17349 EDICT syndrome skos:exactMatch Orphanet:293936 semapv:UnspecifiedMatching +obo:GARD_17349 EDICT syndrome skos:narrowMatch OMIM:614303 semapv:UnspecifiedMatching +obo:GARD_17350 Distal Xq28 microduplication syndrome skos:exactMatch Orphanet:293939 semapv:UnspecifiedMatching +obo:GARD_17350 Distal Xq28 microduplication syndrome skos:narrowMatch OMIM:300815 semapv:UnspecifiedMatching +obo:GARD_17351 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch Orphanet:293958 semapv:UnspecifiedMatching +obo:GARD_17351 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:narrowMatch OMIM:614187 semapv:UnspecifiedMatching +obo:GARD_17352 Hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch Orphanet:293964 semapv:UnspecifiedMatching +obo:GARD_17352 Hypoinsulinemic hypoglycemia and body hemihypertrophy skos:narrowMatch OMIM:240900 semapv:UnspecifiedMatching +obo:GARD_17353 Deficiency in anterior pituitary function-variable immunodeficiency syndrome skos:exactMatch Orphanet:293978 semapv:UnspecifiedMatching +obo:GARD_17353 Deficiency in anterior pituitary function-variable immunodeficiency syndrome skos:narrowMatch OMIM:615577 semapv:UnspecifiedMatching +obo:GARD_17354 Microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 semapv:UnspecifiedMatching +obo:GARD_17354 Microcephaly-capillary malformation syndrome skos:narrowMatch OMIM:614261 semapv:UnspecifiedMatching +obo:GARD_17355 Neonatal inflammatory skin and bowel disease skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching +obo:GARD_17355 Neonatal inflammatory skin and bowel disease skos:narrowMatch OMIM:614328 semapv:UnspecifiedMatching +obo:GARD_17355 Neonatal inflammatory skin and bowel disease skos:narrowMatch OMIM:616069 semapv:UnspecifiedMatching +obo:GARD_17356 Renal-hepatic-pancreatic dysplasia skos:exactMatch Orphanet:294415 semapv:UnspecifiedMatching +obo:GARD_17356 Renal-hepatic-pancreatic dysplasia skos:narrowMatch OMIM:208540 semapv:UnspecifiedMatching +obo:GARD_17356 Renal-hepatic-pancreatic dysplasia skos:narrowMatch OMIM:615415 semapv:UnspecifiedMatching +obo:GARD_17357 Zygodactyly type 1 skos:exactMatch Orphanet:295187 semapv:UnspecifiedMatching +obo:GARD_17357 Zygodactyly type 1 skos:narrowMatch OMIM:609815 semapv:UnspecifiedMatching +obo:GARD_17358 Synpolydactyly type 1 skos:exactMatch Orphanet:295195 semapv:UnspecifiedMatching +obo:GARD_17358 Synpolydactyly type 1 skos:narrowMatch OMIM:186000 semapv:UnspecifiedMatching +obo:GARD_17359 Synpolydactyly type 2 skos:exactMatch Orphanet:295197 semapv:UnspecifiedMatching +obo:GARD_17359 Synpolydactyly type 2 skos:narrowMatch OMIM:608180 semapv:UnspecifiedMatching +obo:GARD_17360 Synpolydactyly type 3 skos:exactMatch Orphanet:295199 semapv:UnspecifiedMatching +obo:GARD_17360 Synpolydactyly type 3 skos:narrowMatch OMIM:610234 semapv:UnspecifiedMatching +obo:GARD_17361 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency skos:exactMatch Orphanet:300179 semapv:UnspecifiedMatching +obo:GARD_17361 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency skos:narrowMatch OMIM:614557 semapv:UnspecifiedMatching +obo:GARD_17362 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:exactMatch Orphanet:300284 semapv:UnspecifiedMatching +obo:GARD_17362 Connective tissue disorder due to lysyl hydroxylase-3 deficiency skos:narrowMatch OMIM:612394 semapv:UnspecifiedMatching +obo:GARD_17363 Transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch Orphanet:300293 semapv:UnspecifiedMatching +obo:GARD_17363 Transient infantile hypertriglyceridemia and hepatosteatosis skos:narrowMatch OMIM:614480 semapv:UnspecifiedMatching +obo:GARD_17364 Severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch Orphanet:300298 semapv:UnspecifiedMatching +obo:GARD_17364 Severe congenital hypochromic anemia with ringed sideroblasts skos:narrowMatch OMIM:615234 semapv:UnspecifiedMatching +obo:GARD_17365 Congenital cataract-hearing loss-severe developmental delay syndrome skos:exactMatch Orphanet:300313 semapv:UnspecifiedMatching +obo:GARD_17365 Congenital cataract-hearing loss-severe developmental delay syndrome skos:narrowMatch OMIM:614482 semapv:UnspecifiedMatching +obo:GARD_17366 Persistent polyclonal B-cell lymphocytosis skos:exactMatch Orphanet:300324 semapv:UnspecifiedMatching +obo:GARD_17366 Persistent polyclonal B-cell lymphocytosis skos:narrowMatch OMIM:606445 semapv:UnspecifiedMatching +obo:GARD_17367 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:exactMatch Orphanet:300333 semapv:UnspecifiedMatching +obo:GARD_17367 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome skos:narrowMatch OMIM:609057 semapv:UnspecifiedMatching +obo:GARD_17368 Autosomal systemic lupus erythematosus skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching +obo:GARD_17368 Autosomal systemic lupus erythematosus skos:narrowMatch OMIM:614420 semapv:UnspecifiedMatching +obo:GARD_17369 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch Orphanet:300359 semapv:UnspecifiedMatching +obo:GARD_17369 PLCG2-associated antibody deficiency and immune dysregulation skos:narrowMatch OMIM:614468 semapv:UnspecifiedMatching +obo:GARD_17370 X-linked acrogigantism skos:exactMatch Orphanet:300373 semapv:UnspecifiedMatching +obo:GARD_17370 X-linked acrogigantism skos:narrowMatch OMIM:300942 semapv:UnspecifiedMatching +obo:GARD_17371 Progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch Orphanet:300382 semapv:UnspecifiedMatching +obo:GARD_17371 Progeroid and marfanoid aspect-lipodystrophy syndrome skos:narrowMatch OMIM:616914 semapv:UnspecifiedMatching +obo:GARD_17372 Pseudohypoaldosteronism type 2D skos:exactMatch Orphanet:300525 semapv:UnspecifiedMatching +obo:GARD_17372 Pseudohypoaldosteronism type 2D skos:narrowMatch OMIM:614495 semapv:UnspecifiedMatching +obo:GARD_17373 Pseudohypoaldosteronism type 2E skos:exactMatch Orphanet:300530 semapv:UnspecifiedMatching +obo:GARD_17373 Pseudohypoaldosteronism type 2E skos:narrowMatch OMIM:614496 semapv:UnspecifiedMatching +obo:GARD_17374 Autosomal recessive infantile hypercalcemia skos:exactMatch Orphanet:300547 semapv:UnspecifiedMatching +obo:GARD_17374 Autosomal recessive infantile hypercalcemia skos:narrowMatch OMIM:143880 semapv:UnspecifiedMatching +obo:GARD_17374 Autosomal recessive infantile hypercalcemia skos:narrowMatch OMIM:616963 semapv:UnspecifiedMatching +obo:GARD_17375 Polymicrogyria due to TUBB2B mutation skos:exactMatch Orphanet:300573 semapv:UnspecifiedMatching +obo:GARD_17375 Polymicrogyria due to TUBB2B mutation skos:narrowMatch OMIM:610031 semapv:UnspecifiedMatching +obo:GARD_17376 Oligodontia-cancer predisposition syndrome skos:exactMatch Orphanet:300576 semapv:UnspecifiedMatching +obo:GARD_17376 Oligodontia-cancer predisposition syndrome skos:narrowMatch OMIM:608615 semapv:UnspecifiedMatching +obo:GARD_17377 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome skos:exactMatch Orphanet:306504 semapv:UnspecifiedMatching +obo:GARD_17377 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome skos:narrowMatch OMIM:614748 semapv:UnspecifiedMatching +obo:GARD_17378 Autosomal recessive spastic paraplegia type 48 skos:exactMatch Orphanet:306511 semapv:UnspecifiedMatching +obo:GARD_17378 Autosomal recessive spastic paraplegia type 48 skos:narrowMatch OMIM:613647 semapv:UnspecifiedMatching +obo:GARD_17379 Congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch Orphanet:306530 semapv:UnspecifiedMatching +obo:GARD_17379 Congenital hereditary facial paralysis-variable hearing loss syndrome skos:narrowMatch OMIM:604185 semapv:UnspecifiedMatching +obo:GARD_17379 Congenital hereditary facial paralysis-variable hearing loss syndrome skos:narrowMatch OMIM:614744 semapv:UnspecifiedMatching +obo:GARD_17380 Porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch Orphanet:306547 semapv:UnspecifiedMatching +obo:GARD_17380 Porencephaly-microcephaly-bilateral congenital cataract syndrome skos:narrowMatch OMIM:613730 semapv:UnspecifiedMatching +obo:GARD_17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:exactMatch Orphanet:306558 semapv:UnspecifiedMatching +obo:GARD_17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:narrowMatch OMIM:614231 semapv:UnspecifiedMatching +obo:GARD_17381 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome skos:narrowMatch OMIM:619278 semapv:UnspecifiedMatching +obo:GARD_17382 Sodium channelopathy-related small fiber neuropathy skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching +obo:GARD_17382 Sodium channelopathy-related small fiber neuropathy skos:narrowMatch OMIM:133020 semapv:UnspecifiedMatching +obo:GARD_17382 Sodium channelopathy-related small fiber neuropathy skos:narrowMatch OMIM:615551 semapv:UnspecifiedMatching +obo:GARD_17383 Primary dystonia, DYT21 type skos:exactMatch Orphanet:306734 semapv:UnspecifiedMatching +obo:GARD_17383 Primary dystonia, DYT21 type skos:narrowMatch OMIM:614588 semapv:UnspecifiedMatching +obo:GARD_17384 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:307936 semapv:UnspecifiedMatching +obo:GARD_17384 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:narrowMatch OMIM:607658 semapv:UnspecifiedMatching +obo:GARD_17385 Methylcobalamin deficiency type cblDv1 skos:exactMatch Orphanet:308380 semapv:UnspecifiedMatching +obo:GARD_17385 Methylcobalamin deficiency type cblDv1 skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +obo:GARD_17386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch Orphanet:308386 semapv:UnspecifiedMatching +obo:GARD_17386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:narrowMatch OMIM:252150 semapv:UnspecifiedMatching +obo:GARD_17387 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch Orphanet:308393 semapv:UnspecifiedMatching +obo:GARD_17387 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:narrowMatch OMIM:252160 semapv:UnspecifiedMatching +obo:GARD_17388 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch Orphanet:308400 semapv:UnspecifiedMatching +obo:GARD_17388 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:narrowMatch OMIM:615501 semapv:UnspecifiedMatching +obo:GARD_17389 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency skos:exactMatch Orphanet:308410 semapv:UnspecifiedMatching +obo:GARD_17389 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency skos:narrowMatch OMIM:614923 semapv:UnspecifiedMatching +obo:GARD_17390 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch Orphanet:308425 semapv:UnspecifiedMatching +obo:GARD_17390 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:narrowMatch OMIM:251120 semapv:UnspecifiedMatching +obo:GARD_17391 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:exactMatch Orphanet:308442 semapv:UnspecifiedMatching +obo:GARD_17391 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +obo:GARD_17392 Erythrocyte galactose epimerase deficiency skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching +obo:GARD_17392 Erythrocyte galactose epimerase deficiency skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +obo:GARD_17393 Generalized galactose epimerase deficiency skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching +obo:GARD_17393 Generalized galactose epimerase deficiency skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +obo:GARD_17394 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch Orphanet:308621 semapv:UnspecifiedMatching +obo:GARD_17394 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17395 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch Orphanet:308638 semapv:UnspecifiedMatching +obo:GARD_17395 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17396 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch Orphanet:308655 semapv:UnspecifiedMatching +obo:GARD_17396 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17397 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:exactMatch Orphanet:308670 semapv:UnspecifiedMatching +obo:GARD_17397 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17398 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch Orphanet:308684 semapv:UnspecifiedMatching +obo:GARD_17398 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17399 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:exactMatch Orphanet:308698 semapv:UnspecifiedMatching +obo:GARD_17399 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17400 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:exactMatch Orphanet:308712 semapv:UnspecifiedMatching +obo:GARD_17400 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_17401 Pancreatic triacylglycerol lipase deficiency skos:exactMatch Orphanet:309031 semapv:UnspecifiedMatching +obo:GARD_17401 Pancreatic triacylglycerol lipase deficiency skos:narrowMatch OMIM:614338 semapv:UnspecifiedMatching +obo:GARD_17402 Pancreatic colipase deficiency skos:exactMatch Orphanet:309108 semapv:UnspecifiedMatching +obo:GARD_17402 Pancreatic colipase deficiency skos:narrowMatch OMIM:614338 semapv:UnspecifiedMatching +obo:GARD_17403 Combined pancreatic lipase-colipase deficiency skos:exactMatch Orphanet:309111 semapv:UnspecifiedMatching +obo:GARD_17403 Combined pancreatic lipase-colipase deficiency skos:narrowMatch OMIM:614338 semapv:UnspecifiedMatching +obo:GARD_17404 Sandhoff disease, juvenile form skos:exactMatch Orphanet:309162 semapv:UnspecifiedMatching +obo:GARD_17404 Sandhoff disease, juvenile form skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +obo:GARD_17405 Sandhoff disease, adult form skos:exactMatch Orphanet:309169 semapv:UnspecifiedMatching +obo:GARD_17405 Sandhoff disease, adult form skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +obo:GARD_17406 GM2 gangliosidosis, AB variant skos:exactMatch Orphanet:309246 semapv:UnspecifiedMatching +obo:GARD_17406 GM2 gangliosidosis, AB variant skos:narrowMatch OMIM:272750 semapv:UnspecifiedMatching +obo:GARD_17407 Alpha-mannosidosis, infantile form skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching +obo:GARD_17407 Alpha-mannosidosis, infantile form skos:narrowMatch OMIM:248500 semapv:UnspecifiedMatching +obo:GARD_17408 Alpha-mannosidosis, adult form skos:exactMatch Orphanet:309288 semapv:UnspecifiedMatching +obo:GARD_17408 Alpha-mannosidosis, adult form skos:narrowMatch OMIM:248500 semapv:UnspecifiedMatching +obo:GARD_17409 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome skos:exactMatch Orphanet:313772 semapv:UnspecifiedMatching +obo:GARD_17409 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome skos:narrowMatch OMIM:614487 semapv:UnspecifiedMatching +obo:GARD_17410 Jawad syndrome skos:exactMatch Orphanet:313795 semapv:UnspecifiedMatching +obo:GARD_17410 Jawad syndrome skos:narrowMatch OMIM:251255 semapv:UnspecifiedMatching +obo:GARD_17411 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome skos:exactMatch Orphanet:313800 semapv:UnspecifiedMatching +obo:GARD_17411 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome skos:narrowMatch OMIM:614979 semapv:UnspecifiedMatching +obo:GARD_17412 Coats plus syndrome skos:exactMatch Orphanet:313838 semapv:UnspecifiedMatching +obo:GARD_17412 Coats plus syndrome skos:narrowMatch OMIM:612199 semapv:UnspecifiedMatching +obo:GARD_17412 Coats plus syndrome skos:narrowMatch OMIM:617341 semapv:UnspecifiedMatching +obo:GARD_17413 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome skos:exactMatch Orphanet:313846 semapv:UnspecifiedMatching +obo:GARD_17413 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome skos:narrowMatch OMIM:614564 semapv:UnspecifiedMatching +obo:GARD_17414 12p12.1 microdeletion syndrome skos:exactMatch Orphanet:313884 semapv:UnspecifiedMatching +obo:GARD_17414 12p12.1 microdeletion syndrome skos:narrowMatch OMIM:616803 semapv:UnspecifiedMatching +obo:GARD_17415 Developmental and speech delay due to SOX5 deficiency skos:exactMatch Orphanet:313892 semapv:UnspecifiedMatching +obo:GARD_17415 Developmental and speech delay due to SOX5 deficiency skos:narrowMatch OMIM:616803 semapv:UnspecifiedMatching +obo:GARD_17416 Gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch Orphanet:314022 semapv:UnspecifiedMatching +obo:GARD_17416 Gastric adenocarcinoma and proximal polyposis of the stomach skos:narrowMatch OMIM:619182 semapv:UnspecifiedMatching +obo:GARD_17417 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity skos:exactMatch Orphanet:314373 semapv:UnspecifiedMatching +obo:GARD_17417 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity skos:narrowMatch OMIM:614616 semapv:UnspecifiedMatching +obo:GARD_17418 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch Orphanet:314376 semapv:UnspecifiedMatching +obo:GARD_17418 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:narrowMatch OMIM:614665 semapv:UnspecifiedMatching +obo:GARD_17419 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch Orphanet:314394 semapv:UnspecifiedMatching +obo:GARD_17419 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:narrowMatch OMIM:614813 semapv:UnspecifiedMatching +obo:GARD_17420 Autosomal dominant aplasia and myelodysplasia skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching +obo:GARD_17420 Autosomal dominant aplasia and myelodysplasia skos:narrowMatch OMIM:614675 semapv:UnspecifiedMatching +obo:GARD_17421 Young adult-onset distal hereditary motor neuropathy skos:exactMatch Orphanet:314485 semapv:UnspecifiedMatching +obo:GARD_17421 Young adult-onset distal hereditary motor neuropathy skos:narrowMatch OMIM:614881 semapv:UnspecifiedMatching +obo:GARD_17421 Young adult-onset distal hereditary motor neuropathy skos:narrowMatch OMIM:619216 semapv:UnspecifiedMatching +obo:GARD_17422 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome skos:exactMatch Orphanet:314555 semapv:UnspecifiedMatching +obo:GARD_17422 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome skos:narrowMatch OMIM:611174 semapv:UnspecifiedMatching +obo:GARD_17423 15q overgrowth syndrome skos:exactMatch Orphanet:314585 semapv:UnspecifiedMatching +obo:GARD_17423 15q overgrowth syndrome skos:narrowMatch OMIM:614846 semapv:UnspecifiedMatching +obo:GARD_17424 Distal tetrasomy 15q skos:exactMatch Orphanet:314588 semapv:UnspecifiedMatching +obo:GARD_17424 Distal tetrasomy 15q skos:narrowMatch OMIM:614846 semapv:UnspecifiedMatching +obo:GARD_17425 Autosomal recessive spastic ataxia with leukoencephalopathy skos:exactMatch Orphanet:314603 semapv:UnspecifiedMatching +obo:GARD_17425 Autosomal recessive spastic ataxia with leukoencephalopathy skos:narrowMatch OMIM:611390 semapv:UnspecifiedMatching +obo:GARD_17426 CLN11 disease skos:exactMatch Orphanet:314629 semapv:UnspecifiedMatching +obo:GARD_17426 CLN11 disease skos:narrowMatch OMIM:614706 semapv:UnspecifiedMatching +obo:GARD_17427 ATP13A2-related juvenile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching +obo:GARD_17427 ATP13A2-related juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:606693 semapv:UnspecifiedMatching +obo:GARD_17428 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch Orphanet:314637 semapv:UnspecifiedMatching +obo:GARD_17428 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:narrowMatch OMIM:614702 semapv:UnspecifiedMatching +obo:GARD_17429 Non-progressive cerebellar ataxia with intellectual disability skos:exactMatch Orphanet:314647 semapv:UnspecifiedMatching +obo:GARD_17429 Non-progressive cerebellar ataxia with intellectual disability skos:narrowMatch OMIM:614756 semapv:UnspecifiedMatching +obo:GARD_17430 Combined immunodeficiency due to STK4 deficiency skos:exactMatch Orphanet:314689 semapv:UnspecifiedMatching +obo:GARD_17430 Combined immunodeficiency due to STK4 deficiency skos:narrowMatch OMIM:614868 semapv:UnspecifiedMatching +obo:GARD_17431 Primary systemic amyloidosis skos:exactMatch Orphanet:314701 semapv:UnspecifiedMatching +obo:GARD_17431 Primary systemic amyloidosis skos:narrowMatch OMIM:254500 semapv:UnspecifiedMatching +obo:GARD_17432 Lethal arteriopathy syndrome due to fibulin-4 deficiency skos:exactMatch Orphanet:314718 semapv:UnspecifiedMatching +obo:GARD_17432 Lethal arteriopathy syndrome due to fibulin-4 deficiency skos:narrowMatch OMIM:614437 semapv:UnspecifiedMatching +obo:GARD_17433 Atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch Orphanet:314721 semapv:UnspecifiedMatching +obo:GARD_17433 Atypical dentin dysplasia due to SMOC2 deficiency skos:narrowMatch OMIM:125400 semapv:UnspecifiedMatching +obo:GARD_17434 SHOX-related short stature skos:exactMatch Orphanet:314795 semapv:UnspecifiedMatching +obo:GARD_17434 SHOX-related short stature skos:narrowMatch OMIM:300582 semapv:UnspecifiedMatching +obo:GARD_17435 Short stature due to partial GHR deficiency skos:exactMatch Orphanet:314802 semapv:UnspecifiedMatching +obo:GARD_17435 Short stature due to partial GHR deficiency skos:narrowMatch OMIM:604271 semapv:UnspecifiedMatching +obo:GARD_17436 Short stature due to GHSR deficiency skos:exactMatch Orphanet:314811 semapv:UnspecifiedMatching +obo:GARD_17436 Short stature due to GHSR deficiency skos:narrowMatch OMIM:615925 semapv:UnspecifiedMatching +obo:GARD_17437 Severe Canavan disease skos:exactMatch Orphanet:314911 semapv:UnspecifiedMatching +obo:GARD_17437 Severe Canavan disease skos:narrowMatch OMIM:271900 semapv:UnspecifiedMatching +obo:GARD_17438 Mild Canavan disease skos:exactMatch Orphanet:314918 semapv:UnspecifiedMatching +obo:GARD_17438 Mild Canavan disease skos:narrowMatch OMIM:271900 semapv:UnspecifiedMatching +obo:GARD_17439 X-linked non progressive cerebellar ataxia skos:exactMatch Orphanet:314978 semapv:UnspecifiedMatching +obo:GARD_17439 X-linked non progressive cerebellar ataxia skos:narrowMatch OMIM:300703 semapv:UnspecifiedMatching +obo:GARD_17440 Cataract-congenital heart disease-neural tube defect syndrome skos:exactMatch Orphanet:314993 semapv:UnspecifiedMatching +obo:GARD_17440 Cataract-congenital heart disease-neural tube defect syndrome skos:narrowMatch OMIM:608227 semapv:UnspecifiedMatching +obo:GARD_17441 Severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch Orphanet:317425 semapv:UnspecifiedMatching +obo:GARD_17441 Severe combined immunodeficiency due to DNA-PKcs deficiency skos:narrowMatch OMIM:615966 semapv:UnspecifiedMatching +obo:GARD_17442 Pancytopenia due to IKZF1 mutations skos:exactMatch Orphanet:317473 semapv:UnspecifiedMatching +obo:GARD_17442 Pancytopenia due to IKZF1 mutations skos:narrowMatch OMIM:616873 semapv:UnspecifiedMatching +obo:GARD_17443 Congenital myopathy with internal nuclei and atypical cores skos:exactMatch Orphanet:319160 semapv:UnspecifiedMatching +obo:GARD_17443 Congenital myopathy with internal nuclei and atypical cores skos:narrowMatch OMIM:614807 semapv:UnspecifiedMatching +obo:GARD_17444 Familial cortical myoclonus skos:exactMatch Orphanet:319189 semapv:UnspecifiedMatching +obo:GARD_17444 Familial cortical myoclonus skos:narrowMatch OMIM:614937 semapv:UnspecifiedMatching +obo:GARD_17445 Autosomal recessive spastic paraplegia type 53 skos:exactMatch Orphanet:319199 semapv:UnspecifiedMatching +obo:GARD_17445 Autosomal recessive spastic paraplegia type 53 skos:narrowMatch OMIM:614898 semapv:UnspecifiedMatching +obo:GARD_17446 MiT family translocation renal cell carcinoma skos:exactMatch Orphanet:319308 semapv:UnspecifiedMatching +obo:GARD_17446 MiT family translocation renal cell carcinoma skos:narrowMatch OMIM:300854 semapv:UnspecifiedMatching +obo:GARD_17447 Autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching +obo:GARD_17447 Autosomal recessive myogenic arthrogryposis multiplex congenita skos:narrowMatch OMIM:618484 semapv:UnspecifiedMatching +obo:GARD_17448 Carney complex-trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:319340 semapv:UnspecifiedMatching +obo:GARD_17448 Carney complex-trismus-pseudocamptodactyly syndrome skos:narrowMatch OMIM:608837 semapv:UnspecifiedMatching +obo:GARD_17449 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations skos:exactMatch Orphanet:319462 semapv:UnspecifiedMatching +obo:GARD_17449 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations skos:narrowMatch OMIM:605724 semapv:UnspecifiedMatching +obo:GARD_17450 Inherited acute myeloid leukemia skos:exactMatch Orphanet:319465 semapv:UnspecifiedMatching +obo:GARD_17450 Inherited acute myeloid leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_17451 Acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch Orphanet:319480 semapv:UnspecifiedMatching +obo:GARD_17451 Acute myeloid leukemia with CEBPA somatic mutations skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_17452 Combined oxidative phosphorylation defect type 8 skos:exactMatch Orphanet:319504 semapv:UnspecifiedMatching +obo:GARD_17452 Combined oxidative phosphorylation defect type 8 skos:narrowMatch OMIM:614096 semapv:UnspecifiedMatching +obo:GARD_17453 Combined oxidative phosphorylation defect type 9 skos:exactMatch Orphanet:319509 semapv:UnspecifiedMatching +obo:GARD_17453 Combined oxidative phosphorylation defect type 9 skos:narrowMatch OMIM:614582 semapv:UnspecifiedMatching +obo:GARD_17454 Combined oxidative phosphorylation defect type 13 skos:exactMatch Orphanet:319514 semapv:UnspecifiedMatching +obo:GARD_17454 Combined oxidative phosphorylation defect type 13 skos:narrowMatch OMIM:614932 semapv:UnspecifiedMatching +obo:GARD_17455 Combined oxidative phosphorylation defect type 14 skos:exactMatch Orphanet:319519 semapv:UnspecifiedMatching +obo:GARD_17455 Combined oxidative phosphorylation defect type 14 skos:narrowMatch OMIM:614946 semapv:UnspecifiedMatching +obo:GARD_17456 Combined oxidative phosphorylation defect type 15 skos:exactMatch Orphanet:319524 semapv:UnspecifiedMatching +obo:GARD_17456 Combined oxidative phosphorylation defect type 15 skos:narrowMatch OMIM:614947 semapv:UnspecifiedMatching +obo:GARD_17457 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch Orphanet:319547 semapv:UnspecifiedMatching +obo:GARD_17457 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:narrowMatch OMIM:614889 semapv:UnspecifiedMatching +obo:GARD_17458 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch Orphanet:319563 semapv:UnspecifiedMatching +obo:GARD_17458 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:narrowMatch OMIM:616126 semapv:UnspecifiedMatching +obo:GARD_17459 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319569 semapv:UnspecifiedMatching +obo:GARD_17459 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:narrowMatch OMIM:209950 semapv:UnspecifiedMatching +obo:GARD_17460 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319574 semapv:UnspecifiedMatching +obo:GARD_17460 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:narrowMatch OMIM:614889 semapv:UnspecifiedMatching +obo:GARD_17461 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319581 semapv:UnspecifiedMatching +obo:GARD_17461 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:narrowMatch OMIM:615978 semapv:UnspecifiedMatching +obo:GARD_17462 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch Orphanet:319595 semapv:UnspecifiedMatching +obo:GARD_17462 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:narrowMatch OMIM:614892 semapv:UnspecifiedMatching +obo:GARD_17463 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch Orphanet:319600 semapv:UnspecifiedMatching +obo:GARD_17463 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:narrowMatch OMIM:614893 semapv:UnspecifiedMatching +obo:GARD_17464 X-linked mendelian susceptibility to mycobacterial diseases skos:exactMatch Orphanet:319605 semapv:UnspecifiedMatching +obo:GARD_17464 X-linked mendelian susceptibility to mycobacterial diseases skos:narrowMatch OMIM:300636 semapv:UnspecifiedMatching +obo:GARD_17464 X-linked mendelian susceptibility to mycobacterial diseases skos:narrowMatch OMIM:300645 semapv:UnspecifiedMatching +obo:GARD_17465 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch Orphanet:319623 semapv:UnspecifiedMatching +obo:GARD_17465 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:narrowMatch OMIM:300645 semapv:UnspecifiedMatching +obo:GARD_17466 Amyloidosis cutis dyschromia skos:exactMatch Orphanet:319635 semapv:UnspecifiedMatching +obo:GARD_17466 Amyloidosis cutis dyschromia skos:narrowMatch OMIM:617920 semapv:UnspecifiedMatching +obo:GARD_17467 Retinal macular dystrophy type 2 skos:exactMatch Orphanet:319640 semapv:UnspecifiedMatching +obo:GARD_17467 Retinal macular dystrophy type 2 skos:narrowMatch OMIM:608051 semapv:UnspecifiedMatching +obo:GARD_17468 Alazami syndrome skos:exactMatch Orphanet:319671 semapv:UnspecifiedMatching +obo:GARD_17468 Alazami syndrome skos:narrowMatch OMIM:615071 semapv:UnspecifiedMatching +obo:GARD_17469 Microcephalic primordial dwarfism, Dauber type skos:exactMatch Orphanet:319675 semapv:UnspecifiedMatching +obo:GARD_17469 Microcephalic primordial dwarfism, Dauber type skos:narrowMatch OMIM:614851 semapv:UnspecifiedMatching +obo:GARD_17470 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch Orphanet:319678 semapv:UnspecifiedMatching +obo:GARD_17470 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:narrowMatch OMIM:614654 semapv:UnspecifiedMatching +obo:GARD_17471 Autosomal dominant spastic paraplegia type 41 skos:exactMatch Orphanet:320355 semapv:UnspecifiedMatching +obo:GARD_17471 Autosomal dominant spastic paraplegia type 41 skos:narrowMatch OMIM:613364 semapv:UnspecifiedMatching +obo:GARD_17472 Autosomal dominant spastic paraplegia type 36 skos:exactMatch Orphanet:320365 semapv:UnspecifiedMatching +obo:GARD_17472 Autosomal dominant spastic paraplegia type 36 skos:narrowMatch OMIM:613096 semapv:UnspecifiedMatching +obo:GARD_17473 Autosomal recessive spastic paraplegia type 43 skos:exactMatch Orphanet:320370 semapv:UnspecifiedMatching +obo:GARD_17473 Autosomal recessive spastic paraplegia type 43 skos:narrowMatch OMIM:615043 semapv:UnspecifiedMatching +obo:GARD_17474 Autosomal recessive spastic paraplegia type 55 skos:exactMatch Orphanet:320375 semapv:UnspecifiedMatching +obo:GARD_17474 Autosomal recessive spastic paraplegia type 55 skos:narrowMatch OMIM:615035 semapv:UnspecifiedMatching +obo:GARD_17475 Autosomal recessive spastic paraplegia type 54 skos:exactMatch Orphanet:320380 semapv:UnspecifiedMatching +obo:GARD_17475 Autosomal recessive spastic paraplegia type 54 skos:narrowMatch OMIM:615033 semapv:UnspecifiedMatching +obo:GARD_17476 Autosomal recessive spastic paraplegia type 46 skos:exactMatch Orphanet:320391 semapv:UnspecifiedMatching +obo:GARD_17476 Autosomal recessive spastic paraplegia type 46 skos:narrowMatch OMIM:614409 semapv:UnspecifiedMatching +obo:GARD_17477 Autosomal recessive spastic paraplegia type 45 skos:exactMatch Orphanet:320396 semapv:UnspecifiedMatching +obo:GARD_17477 Autosomal recessive spastic paraplegia type 45 skos:narrowMatch OMIM:613162 semapv:UnspecifiedMatching +obo:GARD_17478 Autosomal recessive spastic paraplegia type 44 skos:exactMatch Orphanet:320401 semapv:UnspecifiedMatching +obo:GARD_17478 Autosomal recessive spastic paraplegia type 44 skos:narrowMatch OMIM:613206 semapv:UnspecifiedMatching +obo:GARD_17479 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:exactMatch Orphanet:320406 semapv:UnspecifiedMatching +obo:GARD_17479 Spastic paraplegia-optic atrophy-neuropathy syndrome skos:narrowMatch OMIM:609541 semapv:UnspecifiedMatching +obo:GARD_17480 Autosomal recessive spastic paraplegia type 56 skos:exactMatch Orphanet:320411 semapv:UnspecifiedMatching +obo:GARD_17480 Autosomal recessive spastic paraplegia type 56 skos:narrowMatch OMIM:615030 semapv:UnspecifiedMatching +obo:GARD_17481 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency skos:exactMatch Orphanet:324262 semapv:UnspecifiedMatching +obo:GARD_17481 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency skos:narrowMatch OMIM:614831 semapv:UnspecifiedMatching +obo:GARD_17482 Early-onset Lafora body disease skos:exactMatch Orphanet:324290 semapv:UnspecifiedMatching +obo:GARD_17482 Early-onset Lafora body disease skos:narrowMatch OMIM:616640 semapv:UnspecifiedMatching +obo:GARD_17483 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch Orphanet:324294 semapv:UnspecifiedMatching +obo:GARD_17483 T-cell immunodeficiency with epidermodysplasia verruciformis skos:narrowMatch OMIM:618307 semapv:UnspecifiedMatching +obo:GARD_17484 Sinoatrial node dysfunction and deafness skos:exactMatch Orphanet:324321 semapv:UnspecifiedMatching +obo:GARD_17484 Sinoatrial node dysfunction and deafness skos:narrowMatch OMIM:614896 semapv:UnspecifiedMatching +obo:GARD_17485 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch Orphanet:324410 semapv:UnspecifiedMatching +obo:GARD_17485 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:narrowMatch OMIM:300886 semapv:UnspecifiedMatching +obo:GARD_17486 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch Orphanet:324530 semapv:UnspecifiedMatching +obo:GARD_17486 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:narrowMatch OMIM:614878 semapv:UnspecifiedMatching +obo:GARD_17487 Combined oxidative phosphorylation defect type 11 skos:exactMatch Orphanet:324535 semapv:UnspecifiedMatching +obo:GARD_17487 Combined oxidative phosphorylation defect type 11 skos:narrowMatch OMIM:614922 semapv:UnspecifiedMatching +obo:GARD_17488 Pontocerebellar hypoplasia type 8 skos:exactMatch Orphanet:324569 semapv:UnspecifiedMatching +obo:GARD_17488 Pontocerebellar hypoplasia type 8 skos:narrowMatch OMIM:614961 semapv:UnspecifiedMatching +obo:GARD_17489 ABetaL34V amyloidosis skos:exactMatch Orphanet:324703 semapv:UnspecifiedMatching +obo:GARD_17489 ABetaL34V amyloidosis skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_17490 ABeta amyloidosis, Iowa type skos:exactMatch Orphanet:324708 semapv:UnspecifiedMatching +obo:GARD_17490 ABeta amyloidosis, Iowa type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_17491 ABeta amyloidosis, Italian type skos:exactMatch Orphanet:324713 semapv:UnspecifiedMatching +obo:GARD_17491 ABeta amyloidosis, Italian type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_17492 ABetaA21G amyloidosis skos:exactMatch Orphanet:324718 semapv:UnspecifiedMatching +obo:GARD_17492 ABetaA21G amyloidosis skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_17493 ABeta amyloidosis, Arctic type skos:exactMatch Orphanet:324723 semapv:UnspecifiedMatching +obo:GARD_17493 ABeta amyloidosis, Arctic type skos:narrowMatch OMIM:605714 semapv:UnspecifiedMatching +obo:GARD_17494 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:exactMatch Orphanet:329173 semapv:UnspecifiedMatching +obo:GARD_17494 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:narrowMatch OMIM:615895 semapv:UnspecifiedMatching +obo:GARD_17495 Tall stature-long halluces-multiple extra-epiphyses syndrome skos:exactMatch Orphanet:329191 semapv:UnspecifiedMatching +obo:GARD_17495 Tall stature-long halluces-multiple extra-epiphyses syndrome skos:narrowMatch OMIM:615923 semapv:UnspecifiedMatching +obo:GARD_17496 Developmental delay with autism spectrum disorder and gait instability skos:exactMatch Orphanet:329195 semapv:UnspecifiedMatching +obo:GARD_17496 Developmental delay with autism spectrum disorder and gait instability skos:narrowMatch OMIM:615516 semapv:UnspecifiedMatching +obo:GARD_17497 Autosomal dominant neovascular inflammatory vitreoretinopathy skos:exactMatch Orphanet:329211 semapv:UnspecifiedMatching +obo:GARD_17497 Autosomal dominant neovascular inflammatory vitreoretinopathy skos:narrowMatch OMIM:193235 semapv:UnspecifiedMatching +obo:GARD_17498 Microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch Orphanet:329228 semapv:UnspecifiedMatching +obo:GARD_17498 Microcephalic primordial dwarfism due to ZNF335 deficiency skos:narrowMatch OMIM:615095 semapv:UnspecifiedMatching +obo:GARD_17499 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch Orphanet:329235 semapv:UnspecifiedMatching +obo:GARD_17499 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:narrowMatch OMIM:300888 semapv:UnspecifiedMatching +obo:GARD_175 Free sialic acid storage disease, infantile form skos:exactMatch Orphanet:309324 semapv:UnspecifiedMatching +obo:GARD_175 Free sialic acid storage disease, infantile form skos:narrowMatch OMIM:269920 semapv:UnspecifiedMatching +obo:GARD_17500 Congenital chronic diarrhea with protein-losing enteropathy skos:exactMatch Orphanet:329242 semapv:UnspecifiedMatching +obo:GARD_17500 Congenital chronic diarrhea with protein-losing enteropathy skos:narrowMatch OMIM:615863 semapv:UnspecifiedMatching +obo:GARD_17500 Congenital chronic diarrhea with protein-losing enteropathy skos:narrowMatch OMIM:618183 semapv:UnspecifiedMatching +obo:GARD_17501 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:exactMatch Orphanet:329314 semapv:UnspecifiedMatching +obo:GARD_17501 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:narrowMatch OMIM:617070 semapv:UnspecifiedMatching +obo:GARD_17502 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch Orphanet:329332 semapv:UnspecifiedMatching +obo:GARD_17502 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:narrowMatch OMIM:614407 semapv:UnspecifiedMatching +obo:GARD_17503 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch Orphanet:329336 semapv:UnspecifiedMatching +obo:GARD_17503 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:narrowMatch OMIM:616479 semapv:UnspecifiedMatching +obo:GARD_17504 Lipoprotein glomerulopathy skos:exactMatch Orphanet:329481 semapv:UnspecifiedMatching +obo:GARD_17504 Lipoprotein glomerulopathy skos:narrowMatch OMIM:611771 semapv:UnspecifiedMatching +obo:GARD_17505 5p13 microduplication syndrome skos:exactMatch Orphanet:329802 semapv:UnspecifiedMatching +obo:GARD_17505 5p13 microduplication syndrome skos:narrowMatch OMIM:613174 semapv:UnspecifiedMatching +obo:GARD_17506 Immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329903 semapv:UnspecifiedMatching +obo:GARD_17506 Immunoglobulin-mediated membranoproliferative glomerulonephritis skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +obo:GARD_17507 C3 glomerulopathy skos:exactMatch Orphanet:329918 semapv:UnspecifiedMatching +obo:GARD_17507 C3 glomerulopathy skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_17507 C3 glomerulopathy skos:narrowMatch OMIM:614809 semapv:UnspecifiedMatching +obo:GARD_17508 Generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch Orphanet:329971 semapv:UnspecifiedMatching +obo:GARD_17508 Generalized juvenile polyposis/juvenile polyposis coli skos:narrowMatch OMIM:174900 semapv:UnspecifiedMatching +obo:GARD_17508 Generalized juvenile polyposis/juvenile polyposis coli skos:narrowMatch OMIM:175050 semapv:UnspecifiedMatching +obo:GARD_17509 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:330050 semapv:UnspecifiedMatching +obo:GARD_17509 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:narrowMatch OMIM:614388 semapv:UnspecifiedMatching +obo:GARD_17510 Actinic prurigo skos:exactMatch Orphanet:330061 semapv:UnspecifiedMatching +obo:GARD_17510 Actinic prurigo skos:narrowMatch OMIM:174770 semapv:UnspecifiedMatching +obo:GARD_17511 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch Orphanet:331176 semapv:UnspecifiedMatching +obo:GARD_17511 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:narrowMatch OMIM:612541 semapv:UnspecifiedMatching +obo:GARD_17512 Immunodeficiency due to MASP-2 deficiency skos:exactMatch Orphanet:331187 semapv:UnspecifiedMatching +obo:GARD_17512 Immunodeficiency due to MASP-2 deficiency skos:narrowMatch OMIM:613791 semapv:UnspecifiedMatching +obo:GARD_17513 Immunodeficiency due to ficolin3 deficiency skos:exactMatch Orphanet:331190 semapv:UnspecifiedMatching +obo:GARD_17513 Immunodeficiency due to ficolin3 deficiency skos:narrowMatch OMIM:613860 semapv:UnspecifiedMatching +obo:GARD_17514 Susceptibility to infection due to TYK2 deficiency skos:exactMatch Orphanet:331226 semapv:UnspecifiedMatching +obo:GARD_17514 Susceptibility to infection due to TYK2 deficiency skos:narrowMatch OMIM:611521 semapv:UnspecifiedMatching +obo:GARD_17515 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch Orphanet:352333 semapv:UnspecifiedMatching +obo:GARD_17515 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:narrowMatch OMIM:614457 semapv:UnspecifiedMatching +obo:GARD_17516 Spectrin-associated autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:352403 semapv:UnspecifiedMatching +obo:GARD_17516 Spectrin-associated autosomal recessive cerebellar ataxia skos:narrowMatch OMIM:615386 semapv:UnspecifiedMatching +obo:GARD_17517 Progressive external ophthalmoplegia-myopathy-emaciation syndrome skos:exactMatch Orphanet:352447 semapv:UnspecifiedMatching +obo:GARD_17517 Progressive external ophthalmoplegia-myopathy-emaciation syndrome skos:narrowMatch OMIM:615084 semapv:UnspecifiedMatching +obo:GARD_17518 DNA2-related mitochondrial DNA deletion syndrome skos:exactMatch Orphanet:352470 semapv:UnspecifiedMatching +obo:GARD_17518 DNA2-related mitochondrial DNA deletion syndrome skos:narrowMatch OMIM:615156 semapv:UnspecifiedMatching +obo:GARD_17519 ISPD-related limb-girdle muscular dystrophy R20 skos:exactMatch Orphanet:352479 semapv:UnspecifiedMatching +obo:GARD_17519 ISPD-related limb-girdle muscular dystrophy R20 skos:narrowMatch OMIM:616052 semapv:UnspecifiedMatching +obo:GARD_17520 Autism spectrum disorder due to AUTS2 deficiency skos:exactMatch Orphanet:352490 semapv:UnspecifiedMatching +obo:GARD_17520 Autism spectrum disorder due to AUTS2 deficiency skos:narrowMatch OMIM:615834 semapv:UnspecifiedMatching +obo:GARD_17521 Familial infantile myoclonic epilepsy skos:exactMatch Orphanet:352582 semapv:UnspecifiedMatching +obo:GARD_17521 Familial infantile myoclonic epilepsy skos:narrowMatch OMIM:605021 semapv:UnspecifiedMatching +obo:GARD_17522 Progressive myoclonic epilepsy with dystonia skos:exactMatch Orphanet:352596 semapv:UnspecifiedMatching +obo:GARD_17522 Progressive myoclonic epilepsy with dystonia skos:narrowMatch OMIM:615338 semapv:UnspecifiedMatching +obo:GARD_17523 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch Orphanet:352654 semapv:UnspecifiedMatching +obo:GARD_17523 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:narrowMatch OMIM:615491 semapv:UnspecifiedMatching +obo:GARD_17524 Hereditary benign intraepithelial dyskeratosis skos:exactMatch Orphanet:352657 semapv:UnspecifiedMatching +obo:GARD_17524 Hereditary benign intraepithelial dyskeratosis skos:narrowMatch OMIM:127600 semapv:UnspecifiedMatching +obo:GARD_17525 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch Orphanet:352662 semapv:UnspecifiedMatching +obo:GARD_17525 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:narrowMatch OMIM:615225 semapv:UnspecifiedMatching +obo:GARD_17526 Cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch Orphanet:352682 semapv:UnspecifiedMatching +obo:GARD_17526 Cobblestone lissencephaly without muscular or ocular involvement skos:narrowMatch OMIM:615191 semapv:UnspecifiedMatching +obo:GARD_17527 CLN13 disease skos:exactMatch Orphanet:352709 semapv:UnspecifiedMatching +obo:GARD_17527 CLN13 disease skos:narrowMatch OMIM:615362 semapv:UnspecifiedMatching +obo:GARD_17528 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch Orphanet:352712 semapv:UnspecifiedMatching +obo:GARD_17528 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:narrowMatch OMIM:615139 semapv:UnspecifiedMatching +obo:GARD_17529 Progressive retinal dystrophy due to retinol transport defect skos:exactMatch Orphanet:352718 semapv:UnspecifiedMatching +obo:GARD_17529 Progressive retinal dystrophy due to retinol transport defect skos:narrowMatch OMIM:615147 semapv:UnspecifiedMatching +obo:GARD_17530 Temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching +obo:GARD_17530 Temperature-sensitive oculocutaneous albinism type 1 skos:narrowMatch OMIM:606952 semapv:UnspecifiedMatching +obo:GARD_17531 Oculocutaneous albinism type 7 skos:exactMatch Orphanet:352745 semapv:UnspecifiedMatching +obo:GARD_17531 Oculocutaneous albinism type 7 skos:narrowMatch OMIM:615179 semapv:UnspecifiedMatching +obo:GARD_17532 Epileptic encephalopathy with global cerebral demyelination skos:exactMatch Orphanet:353217 semapv:UnspecifiedMatching +obo:GARD_17532 Epileptic encephalopathy with global cerebral demyelination skos:narrowMatch OMIM:612949 semapv:UnspecifiedMatching +obo:GARD_17533 Familial primary localized cutaneous amyloidosis skos:exactMatch Orphanet:353220 semapv:UnspecifiedMatching +obo:GARD_17533 Familial primary localized cutaneous amyloidosis skos:narrowMatch OMIM:105250 semapv:UnspecifiedMatching +obo:GARD_17533 Familial primary localized cutaneous amyloidosis skos:narrowMatch OMIM:613955 semapv:UnspecifiedMatching +obo:GARD_17534 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch Orphanet:353277 semapv:UnspecifiedMatching +obo:GARD_17534 Rubinstein-Taybi syndrome due to CREBBP mutations skos:narrowMatch OMIM:180849 semapv:UnspecifiedMatching +obo:GARD_17535 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch Orphanet:353284 semapv:UnspecifiedMatching +obo:GARD_17535 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:narrowMatch OMIM:613684 semapv:UnspecifiedMatching +obo:GARD_17536 Pyruvate carboxylase deficiency, infantile type skos:exactMatch Orphanet:353308 semapv:UnspecifiedMatching +obo:GARD_17536 Pyruvate carboxylase deficiency, infantile type skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +obo:GARD_17537 Pyruvate carboxylase deficiency, severe neonatal type skos:exactMatch Orphanet:353314 semapv:UnspecifiedMatching +obo:GARD_17537 Pyruvate carboxylase deficiency, severe neonatal type skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +obo:GARD_17538 Pyruvate carboxylase deficiency, benign type skos:exactMatch Orphanet:353320 semapv:UnspecifiedMatching +obo:GARD_17538 Pyruvate carboxylase deficiency, benign type skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +obo:GARD_17539 Congenital myasthenic syndromes with glycosylation defect skos:exactMatch Orphanet:353327 semapv:UnspecifiedMatching +obo:GARD_17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:610542 semapv:UnspecifiedMatching +obo:GARD_17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:614750 semapv:UnspecifiedMatching +obo:GARD_17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:616227 semapv:UnspecifiedMatching +obo:GARD_17539 Congenital myasthenic syndromes with glycosylation defect skos:narrowMatch OMIM:616228 semapv:UnspecifiedMatching +obo:GARD_17540 D,L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:356978 semapv:UnspecifiedMatching +obo:GARD_17540 D,L-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:615182 semapv:UnspecifiedMatching +obo:GARD_17541 ANK3-related intellectual disability-sleep disturbance syndrome skos:exactMatch Orphanet:356996 semapv:UnspecifiedMatching +obo:GARD_17541 ANK3-related intellectual disability-sleep disturbance syndrome skos:narrowMatch OMIM:615493 semapv:UnspecifiedMatching +obo:GARD_17542 19p13.13 microdeletion syndrome skos:exactMatch Orphanet:357001 semapv:UnspecifiedMatching +obo:GARD_17542 19p13.13 microdeletion syndrome skos:narrowMatch OMIM:613638 semapv:UnspecifiedMatching +obo:GARD_17543 Hemolytic uremic syndrome with DGKE deficiency skos:exactMatch Orphanet:357008 semapv:UnspecifiedMatching +obo:GARD_17543 Hemolytic uremic syndrome with DGKE deficiency skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +obo:GARD_17544 Hereditary retinoblastoma skos:exactMatch Orphanet:357027 semapv:UnspecifiedMatching +obo:GARD_17544 Hereditary retinoblastoma skos:narrowMatch OMIM:180200 semapv:UnspecifiedMatching +obo:GARD_17545 Non-hereditary retinoblastoma skos:exactMatch Orphanet:357034 semapv:UnspecifiedMatching +obo:GARD_17545 Non-hereditary retinoblastoma skos:narrowMatch OMIM:180200 semapv:UnspecifiedMatching +obo:GARD_17546 Autosomal recessive cutis laxa type 2, classic type skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching +obo:GARD_17546 Autosomal recessive cutis laxa type 2, classic type skos:narrowMatch OMIM:219200 semapv:UnspecifiedMatching +obo:GARD_17546 Autosomal recessive cutis laxa type 2, classic type skos:narrowMatch OMIM:617402 semapv:UnspecifiedMatching +obo:GARD_17546 Autosomal recessive cutis laxa type 2, classic type skos:narrowMatch OMIM:617403 semapv:UnspecifiedMatching +obo:GARD_17547 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch Orphanet:357158 semapv:UnspecifiedMatching +obo:GARD_17547 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:narrowMatch OMIM:602562 semapv:UnspecifiedMatching +obo:GARD_17548 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch Orphanet:357175 semapv:UnspecifiedMatching +obo:GARD_17548 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:narrowMatch OMIM:615162 semapv:UnspecifiedMatching +obo:GARD_17549 Severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch Orphanet:357237 semapv:UnspecifiedMatching +obo:GARD_17549 Severe combined immunodeficiency due to CARD11 deficiency skos:narrowMatch OMIM:615206 semapv:UnspecifiedMatching +obo:GARD_17550 Combined immunodeficiency due to IL21R deficiency skos:exactMatch Orphanet:357329 semapv:UnspecifiedMatching +obo:GARD_17550 Combined immunodeficiency due to IL21R deficiency skos:narrowMatch OMIM:615207 semapv:UnspecifiedMatching +obo:GARD_17551 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch Orphanet:357332 semapv:UnspecifiedMatching +obo:GARD_17551 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:narrowMatch OMIM:615170 semapv:UnspecifiedMatching +obo:GARD_17552 Severe neurodegenerative syndrome with lipodystrophy skos:exactMatch Orphanet:363400 semapv:UnspecifiedMatching +obo:GARD_17552 Severe neurodegenerative syndrome with lipodystrophy skos:narrowMatch OMIM:615924 semapv:UnspecifiedMatching +obo:GARD_17553 Fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch Orphanet:363409 semapv:UnspecifiedMatching +obo:GARD_17553 Fetal akinesia-cerebral and retinal hemorrhage syndrome skos:narrowMatch OMIM:615368 semapv:UnspecifiedMatching +obo:GARD_17554 Hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch Orphanet:363412 semapv:UnspecifiedMatching +obo:GARD_17554 Hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:narrowMatch OMIM:615281 semapv:UnspecifiedMatching +obo:GARD_17555 Multiple mitochondrial dysfunctions syndrome type 3 skos:exactMatch Orphanet:363424 semapv:UnspecifiedMatching +obo:GARD_17555 Multiple mitochondrial dysfunctions syndrome type 3 skos:narrowMatch OMIM:615330 semapv:UnspecifiedMatching +obo:GARD_17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching +obo:GARD_17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:narrowMatch OMIM:614831 semapv:UnspecifiedMatching +obo:GARD_17556 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome skos:narrowMatch OMIM:616204 semapv:UnspecifiedMatching +obo:GARD_17557 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency skos:exactMatch Orphanet:363432 semapv:UnspecifiedMatching +obo:GARD_17557 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency skos:narrowMatch OMIM:616204 semapv:UnspecifiedMatching +obo:GARD_17558 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch Orphanet:363444 semapv:UnspecifiedMatching +obo:GARD_17558 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:narrowMatch OMIM:613680 semapv:UnspecifiedMatching +obo:GARD_17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:363447 semapv:UnspecifiedMatching +obo:GARD_17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:158600 semapv:UnspecifiedMatching +obo:GARD_17559 Autosomal dominant childhood-onset proximal spinal muscular atrophy skos:narrowMatch OMIM:615290 semapv:UnspecifiedMatching +obo:GARD_17560 Testicular teratoma skos:exactMatch Orphanet:363483 semapv:UnspecifiedMatching +obo:GARD_17560 Testicular teratoma skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +obo:GARD_17561 Non-seminomatous germ cell tumor of testis skos:exactMatch Orphanet:363494 semapv:UnspecifiedMatching +obo:GARD_17561 Non-seminomatous germ cell tumor of testis skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +obo:GARD_17562 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch Orphanet:363523 semapv:UnspecifiedMatching +obo:GARD_17562 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:narrowMatch OMIM:615328 semapv:UnspecifiedMatching +obo:GARD_17563 Intellectual disability-strabismus syndrome skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching +obo:GARD_17563 Intellectual disability-strabismus syndrome skos:narrowMatch OMIM:615286 semapv:UnspecifiedMatching +obo:GARD_17564 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch Orphanet:363534 semapv:UnspecifiedMatching +obo:GARD_17564 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:narrowMatch OMIM:271245 semapv:UnspecifiedMatching +obo:GARD_17565 Leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch Orphanet:363540 semapv:UnspecifiedMatching +obo:GARD_17565 Leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:narrowMatch OMIM:615651 semapv:UnspecifiedMatching +obo:GARD_17566 CTCF-related neurodevelopmental disorder skos:exactMatch Orphanet:363611 semapv:UnspecifiedMatching +obo:GARD_17566 CTCF-related neurodevelopmental disorder skos:narrowMatch OMIM:615502 semapv:UnspecifiedMatching +obo:GARD_17567 X-linked parkinsonism-spasticity syndrome skos:exactMatch Orphanet:363654 semapv:UnspecifiedMatching +obo:GARD_17567 X-linked parkinsonism-spasticity syndrome skos:narrowMatch OMIM:300911 semapv:UnspecifiedMatching +obo:GARD_17568 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching +obo:GARD_17568 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:narrowMatch OMIM:605637 semapv:UnspecifiedMatching +obo:GARD_17569 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch Orphanet:363694 semapv:UnspecifiedMatching +obo:GARD_17569 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:narrowMatch OMIM:613845 semapv:UnspecifiedMatching +obo:GARD_17570 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:exactMatch Orphanet:363700 semapv:UnspecifiedMatching +obo:GARD_17570 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:narrowMatch OMIM:162200 semapv:UnspecifiedMatching +obo:GARD_17571 Craniofaciofrontodigital syndrome skos:exactMatch Orphanet:363705 semapv:UnspecifiedMatching +obo:GARD_17571 Craniofaciofrontodigital syndrome skos:narrowMatch OMIM:114620 semapv:UnspecifiedMatching +obo:GARD_17572 Alexander disease type I skos:exactMatch Orphanet:363717 semapv:UnspecifiedMatching +obo:GARD_17572 Alexander disease type I skos:narrowMatch OMIM:203450 semapv:UnspecifiedMatching +obo:GARD_17573 Alexander disease type II skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching +obo:GARD_17573 Alexander disease type II skos:narrowMatch OMIM:203450 semapv:UnspecifiedMatching +obo:GARD_17574 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia skos:exactMatch Orphanet:363727 semapv:UnspecifiedMatching +obo:GARD_17574 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia skos:narrowMatch OMIM:300835 semapv:UnspecifiedMatching +obo:GARD_17575 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:exactMatch Orphanet:363741 semapv:UnspecifiedMatching +obo:GARD_17575 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome skos:narrowMatch OMIM:601794 semapv:UnspecifiedMatching +obo:GARD_17576 17q21.31 microdeletion syndrome skos:exactMatch Orphanet:363958 semapv:UnspecifiedMatching +obo:GARD_17576 17q21.31 microdeletion syndrome skos:narrowMatch OMIM:610443 semapv:UnspecifiedMatching +obo:GARD_17577 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia skos:exactMatch Orphanet:363972 semapv:UnspecifiedMatching +obo:GARD_17577 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia skos:narrowMatch OMIM:613563 semapv:UnspecifiedMatching +obo:GARD_17578 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch Orphanet:363981 semapv:UnspecifiedMatching +obo:GARD_17578 Charcot-Marie-Tooth disease type 4B3 skos:narrowMatch OMIM:615284 semapv:UnspecifiedMatching +obo:GARD_17579 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome skos:exactMatch Orphanet:363992 semapv:UnspecifiedMatching +obo:GARD_17579 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome skos:narrowMatch OMIM:613195 semapv:UnspecifiedMatching +obo:GARD_17580 Non-immune hydrops fetalis skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching +obo:GARD_17580 Non-immune hydrops fetalis skos:narrowMatch OMIM:236750 semapv:UnspecifiedMatching +obo:GARD_17581 X-linked intellectual disability due to GRIA3 mutations skos:exactMatch Orphanet:364028 semapv:UnspecifiedMatching +obo:GARD_17581 X-linked intellectual disability due to GRIA3 mutations skos:narrowMatch OMIM:300699 semapv:UnspecifiedMatching +obo:GARD_17582 Infantile epileptic-dyskinetic encephalopathy skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching +obo:GARD_17582 Infantile epileptic-dyskinetic encephalopathy skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +obo:GARD_17583 Intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch Orphanet:364577 semapv:UnspecifiedMatching +obo:GARD_17583 Intellectual disability-brachydactyly-Pierre Robin syndrome skos:narrowMatch OMIM:608670 semapv:UnspecifiedMatching +obo:GARD_17584 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome skos:exactMatch Orphanet:369837 semapv:UnspecifiedMatching +obo:GARD_17584 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome skos:narrowMatch OMIM:615398 semapv:UnspecifiedMatching +obo:GARD_17585 Congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch Orphanet:369852 semapv:UnspecifiedMatching +obo:GARD_17585 Congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:narrowMatch OMIM:615285 semapv:UnspecifiedMatching +obo:GARD_17586 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch Orphanet:369861 semapv:UnspecifiedMatching +obo:GARD_17586 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:narrowMatch OMIM:616084 semapv:UnspecifiedMatching +obo:GARD_17587 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C skos:exactMatch Orphanet:369867 semapv:UnspecifiedMatching +obo:GARD_17587 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C skos:narrowMatch OMIM:615376 semapv:UnspecifiedMatching +obo:GARD_17588 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency skos:exactMatch Orphanet:369891 semapv:UnspecifiedMatching +obo:GARD_17588 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency skos:narrowMatch OMIM:616789 semapv:UnspecifiedMatching +obo:GARD_17589 Combined oxidative phosphorylation defect type 17 skos:exactMatch Orphanet:369913 semapv:UnspecifiedMatching +obo:GARD_17589 Combined oxidative phosphorylation defect type 17 skos:narrowMatch OMIM:615440 semapv:UnspecifiedMatching +obo:GARD_17590 Pontocerebellar hypoplasia type 9 skos:exactMatch Orphanet:369920 semapv:UnspecifiedMatching +obo:GARD_17590 Pontocerebellar hypoplasia type 9 skos:narrowMatch OMIM:615809 semapv:UnspecifiedMatching +obo:GARD_17591 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome skos:exactMatch Orphanet:369929 semapv:UnspecifiedMatching +obo:GARD_17591 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome skos:narrowMatch OMIM:615474 semapv:UnspecifiedMatching +obo:GARD_17592 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch Orphanet:369939 semapv:UnspecifiedMatching +obo:GARD_17592 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:narrowMatch OMIM:300475 semapv:UnspecifiedMatching +obo:GARD_17593 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome skos:exactMatch Orphanet:369970 semapv:UnspecifiedMatching +obo:GARD_17593 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome skos:narrowMatch OMIM:615458 semapv:UnspecifiedMatching +obo:GARD_17594 Severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch Orphanet:369992 semapv:UnspecifiedMatching +obo:GARD_17594 Severe dermatitis-multiple allergies-metabolic wasting syndrome skos:narrowMatch OMIM:615508 semapv:UnspecifiedMatching +obo:GARD_17595 Diffuse palmoplantar keratoderma with painful fissures skos:exactMatch Orphanet:369999 semapv:UnspecifiedMatching +obo:GARD_17595 Diffuse palmoplantar keratoderma with painful fissures skos:narrowMatch OMIM:148700 semapv:UnspecifiedMatching +obo:GARD_17596 Focal palmoplantar keratoderma with joint keratoses skos:exactMatch Orphanet:370002 semapv:UnspecifiedMatching +obo:GARD_17596 Focal palmoplantar keratoderma with joint keratoses skos:narrowMatch OMIM:148700 semapv:UnspecifiedMatching +obo:GARD_17597 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome skos:exactMatch Orphanet:370022 semapv:UnspecifiedMatching +obo:GARD_17597 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome skos:narrowMatch OMIM:615960 semapv:UnspecifiedMatching +obo:GARD_17598 Oculocutaneous albinism type 5 skos:exactMatch Orphanet:370091 semapv:UnspecifiedMatching +obo:GARD_17598 Oculocutaneous albinism type 5 skos:narrowMatch OMIM:615312 semapv:UnspecifiedMatching +obo:GARD_17599 Oculocutaneous albinism type 6 skos:exactMatch Orphanet:370097 semapv:UnspecifiedMatching +obo:GARD_17599 Oculocutaneous albinism type 6 skos:narrowMatch OMIM:113750 semapv:UnspecifiedMatching +obo:GARD_176 Macrophagic myofasciitis skos:exactMatch Orphanet:592 semapv:UnspecifiedMatching +obo:GARD_17600 Extraskeletal Ewing sarcoma skos:exactMatch Orphanet:370334 semapv:UnspecifiedMatching +obo:GARD_17600 Extraskeletal Ewing sarcoma skos:narrowMatch OMIM:612219 semapv:UnspecifiedMatching +obo:GARD_17601 Peripheral primitive neuroectodermal tumor skos:exactMatch Orphanet:370348 semapv:UnspecifiedMatching +obo:GARD_17601 Peripheral primitive neuroectodermal tumor skos:narrowMatch OMIM:612219 semapv:UnspecifiedMatching +obo:GARD_17602 STT3A-CDG skos:exactMatch Orphanet:370921 semapv:UnspecifiedMatching +obo:GARD_17602 STT3A-CDG skos:narrowMatch OMIM:615596 semapv:UnspecifiedMatching +obo:GARD_17603 STT3B-CDG skos:exactMatch Orphanet:370924 semapv:UnspecifiedMatching +obo:GARD_17603 STT3B-CDG skos:narrowMatch OMIM:615597 semapv:UnspecifiedMatching +obo:GARD_17604 Autism spectrum disorder-epilepsy-arthrogryposis syndrome skos:exactMatch Orphanet:370943 semapv:UnspecifiedMatching +obo:GARD_17604 Autism spectrum disorder-epilepsy-arthrogryposis syndrome skos:narrowMatch OMIM:615553 semapv:UnspecifiedMatching +obo:GARD_17605 Congenital muscular dystrophy with cerebellar involvement skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +obo:GARD_17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:606612 semapv:UnspecifiedMatching +obo:GARD_17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613151 semapv:UnspecifiedMatching +obo:GARD_17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613155 semapv:UnspecifiedMatching +obo:GARD_17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:613156 semapv:UnspecifiedMatching +obo:GARD_17605 Congenital muscular dystrophy with cerebellar involvement skos:narrowMatch OMIM:615351 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:606612 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:608840 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:613155 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:613156 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:615351 semapv:UnspecifiedMatching +obo:GARD_17606 Congenital muscular dystrophy with intellectual disability skos:narrowMatch OMIM:618992 semapv:UnspecifiedMatching +obo:GARD_17607 Congenital muscular dystrophy without intellectual disability skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching +obo:GARD_17607 Congenital muscular dystrophy without intellectual disability skos:narrowMatch OMIM:606612 semapv:UnspecifiedMatching +obo:GARD_17607 Congenital muscular dystrophy without intellectual disability skos:narrowMatch OMIM:613152 semapv:UnspecifiedMatching +obo:GARD_17608 Muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:exactMatch Orphanet:370997 semapv:UnspecifiedMatching +obo:GARD_17608 Muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:narrowMatch OMIM:616538 semapv:UnspecifiedMatching +obo:GARD_17609 Hypotonia-speech impairment-severe cognitive delay syndrome skos:exactMatch Orphanet:371364 semapv:UnspecifiedMatching +obo:GARD_17609 Hypotonia-speech impairment-severe cognitive delay syndrome skos:narrowMatch OMIM:615419 semapv:UnspecifiedMatching +obo:GARD_17609 Hypotonia-speech impairment-severe cognitive delay syndrome skos:narrowMatch OMIM:616801 semapv:UnspecifiedMatching +obo:GARD_17610 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching +obo:GARD_17610 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:narrowMatch OMIM:259600 semapv:UnspecifiedMatching +obo:GARD_17610 Multicentric osteolysis-nodulosis-arthropathy spectrum skos:narrowMatch OMIM:277950 semapv:UnspecifiedMatching +obo:GARD_17611 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch Orphanet:391307 semapv:UnspecifiedMatching +obo:GARD_17611 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:narrowMatch OMIM:615541 semapv:UnspecifiedMatching +obo:GARD_17612 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency skos:exactMatch Orphanet:391311 semapv:UnspecifiedMatching +obo:GARD_17612 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency skos:narrowMatch OMIM:613796 semapv:UnspecifiedMatching +obo:GARD_17613 East Texas bleeding disorder skos:exactMatch Orphanet:391320 semapv:UnspecifiedMatching +obo:GARD_17613 East Texas bleeding disorder skos:narrowMatch OMIM:605913 semapv:UnspecifiedMatching +obo:GARD_17614 X-linked osteoporosis with fractures skos:exactMatch Orphanet:391330 semapv:UnspecifiedMatching +obo:GARD_17614 X-linked osteoporosis with fractures skos:narrowMatch OMIM:300910 semapv:UnspecifiedMatching +obo:GARD_17615 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch Orphanet:391348 semapv:UnspecifiedMatching +obo:GARD_17615 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:narrowMatch OMIM:615578 semapv:UnspecifiedMatching +obo:GARD_17616 SURF1-related Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:391351 semapv:UnspecifiedMatching +obo:GARD_17616 SURF1-related Charcot-Marie-Tooth disease type 4 skos:narrowMatch OMIM:616684 semapv:UnspecifiedMatching +obo:GARD_17617 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching +obo:GARD_17617 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome skos:narrowMatch OMIM:615574 semapv:UnspecifiedMatching +obo:GARD_17618 Familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch Orphanet:391389 semapv:UnspecifiedMatching +obo:GARD_17618 Familial episodic pain syndrome with predominantly upper body involvement skos:narrowMatch OMIM:615040 semapv:UnspecifiedMatching +obo:GARD_17619 Familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch Orphanet:391392 semapv:UnspecifiedMatching +obo:GARD_17619 Familial episodic pain syndrome with predominantly lower limb involvement skos:narrowMatch OMIM:615552 semapv:UnspecifiedMatching +obo:GARD_17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:exactMatch Orphanet:391408 semapv:UnspecifiedMatching +obo:GARD_17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:narrowMatch OMIM:616033 semapv:UnspecifiedMatching +obo:GARD_17620 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:narrowMatch OMIM:616817 semapv:UnspecifiedMatching +obo:GARD_17621 Atypical juvenile parkinsonism skos:exactMatch Orphanet:391411 semapv:UnspecifiedMatching +obo:GARD_17621 Atypical juvenile parkinsonism skos:narrowMatch OMIM:615528 semapv:UnspecifiedMatching +obo:GARD_17621 Atypical juvenile parkinsonism skos:narrowMatch OMIM:615530 semapv:UnspecifiedMatching +obo:GARD_17622 HSD10 disease, infantile type skos:exactMatch Orphanet:391428 semapv:UnspecifiedMatching +obo:GARD_17622 HSD10 disease, infantile type skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +obo:GARD_17623 HSD10 disease, neonatal type skos:exactMatch Orphanet:391457 semapv:UnspecifiedMatching +obo:GARD_17623 HSD10 disease, neonatal type skos:narrowMatch OMIM:300438 semapv:UnspecifiedMatching +obo:GARD_17624 Feingold syndrome type 1 skos:exactMatch Orphanet:391641 semapv:UnspecifiedMatching +obo:GARD_17624 Feingold syndrome type 1 skos:narrowMatch OMIM:164280 semapv:UnspecifiedMatching +obo:GARD_17625 Feingold syndrome type 2 skos:exactMatch Orphanet:391646 semapv:UnspecifiedMatching +obo:GARD_17625 Feingold syndrome type 2 skos:narrowMatch OMIM:614326 semapv:UnspecifiedMatching +obo:GARD_17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:exactMatch Orphanet:394529 semapv:UnspecifiedMatching +obo:GARD_17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:narrowMatch OMIM:231680 semapv:UnspecifiedMatching +obo:GARD_17626 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:narrowMatch OMIM:255100 semapv:UnspecifiedMatching +obo:GARD_17627 Multiple acyl-CoA dehydrogenase deficiency, mild type skos:exactMatch Orphanet:394532 semapv:UnspecifiedMatching +obo:GARD_17627 Multiple acyl-CoA dehydrogenase deficiency, mild type skos:narrowMatch OMIM:231680 semapv:UnspecifiedMatching +obo:GARD_17627 Multiple acyl-CoA dehydrogenase deficiency, mild type skos:narrowMatch OMIM:255100 semapv:UnspecifiedMatching +obo:GARD_17628 Silver-Russell syndrome due to a point mutation skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +obo:GARD_17628 Silver-Russell syndrome due to a point mutation skos:narrowMatch OMIM:616489 semapv:UnspecifiedMatching +obo:GARD_17628 Silver-Russell syndrome due to a point mutation skos:narrowMatch OMIM:618907 semapv:UnspecifiedMatching +obo:GARD_17628 Silver-Russell syndrome due to a point mutation skos:narrowMatch OMIM:618908 semapv:UnspecifiedMatching +obo:GARD_17629 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:exactMatch Orphanet:397593 semapv:UnspecifiedMatching +obo:GARD_17629 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency skos:narrowMatch OMIM:615595 semapv:UnspecifiedMatching +obo:GARD_17630 Macrocephaly-developmental delay syndrome skos:exactMatch Orphanet:397612 semapv:UnspecifiedMatching +obo:GARD_17630 Macrocephaly-developmental delay syndrome skos:narrowMatch OMIM:615637 semapv:UnspecifiedMatching +obo:GARD_17631 Obesity due to CEP19 deficiency skos:exactMatch Orphanet:397615 semapv:UnspecifiedMatching +obo:GARD_17631 Obesity due to CEP19 deficiency skos:narrowMatch OMIM:615703 semapv:UnspecifiedMatching +obo:GARD_17632 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome skos:exactMatch Orphanet:397618 semapv:UnspecifiedMatching +obo:GARD_17632 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome skos:narrowMatch OMIM:609218 semapv:UnspecifiedMatching +obo:GARD_17633 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:397623 semapv:UnspecifiedMatching +obo:GARD_17633 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:narrowMatch OMIM:602471 semapv:UnspecifiedMatching +obo:GARD_17634 Familial hyperprolactinemia skos:exactMatch Orphanet:397685 semapv:UnspecifiedMatching +obo:GARD_17634 Familial hyperprolactinemia skos:narrowMatch OMIM:615555 semapv:UnspecifiedMatching +obo:GARD_17635 Hereditary isolated aplastic anemia skos:exactMatch Orphanet:397692 semapv:UnspecifiedMatching +obo:GARD_17635 Hereditary isolated aplastic anemia skos:narrowMatch OMIM:616553 semapv:UnspecifiedMatching +obo:GARD_17636 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching +obo:GARD_17636 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome skos:narrowMatch OMIM:616354 semapv:UnspecifiedMatching +obo:GARD_17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch Orphanet:397715 semapv:UnspecifiedMatching +obo:GARD_17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:narrowMatch OMIM:615636 semapv:UnspecifiedMatching +obo:GARD_17637 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:narrowMatch OMIM:616546 semapv:UnspecifiedMatching +obo:GARD_17638 Autosomal dominant Charcot-Marie-Tooth disease type 2U skos:exactMatch Orphanet:397735 semapv:UnspecifiedMatching +obo:GARD_17638 Autosomal dominant Charcot-Marie-Tooth disease type 2U skos:narrowMatch OMIM:616280 semapv:UnspecifiedMatching +obo:GARD_17639 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch Orphanet:397744 semapv:UnspecifiedMatching +obo:GARD_17639 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:narrowMatch OMIM:614369 semapv:UnspecifiedMatching +obo:GARD_17640 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch Orphanet:397758 semapv:UnspecifiedMatching +obo:GARD_17640 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:narrowMatch OMIM:616079 semapv:UnspecifiedMatching +obo:GARD_17641 Severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching +obo:GARD_17641 Severe combined immunodeficiency due to IKK2 deficiency skos:narrowMatch OMIM:615592 semapv:UnspecifiedMatching +obo:GARD_17641 Severe combined immunodeficiency due to IKK2 deficiency skos:narrowMatch OMIM:618204 semapv:UnspecifiedMatching +obo:GARD_17642 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch Orphanet:397927 semapv:UnspecifiedMatching +obo:GARD_17642 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:narrowMatch OMIM:615709 semapv:UnspecifiedMatching +obo:GARD_17643 Polyglucosan body myopathy type 1 skos:exactMatch Orphanet:397937 semapv:UnspecifiedMatching +obo:GARD_17643 Polyglucosan body myopathy type 1 skos:narrowMatch OMIM:615895 semapv:UnspecifiedMatching +obo:GARD_17644 Autosomal spastic paraplegia type 58 skos:exactMatch Orphanet:397946 semapv:UnspecifiedMatching +obo:GARD_17644 Autosomal spastic paraplegia type 58 skos:narrowMatch OMIM:611302 semapv:UnspecifiedMatching +obo:GARD_17645 Microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching +obo:GARD_17645 Microcephaly-thin corpus callosum-intellectual disability syndrome skos:narrowMatch OMIM:615599 semapv:UnspecifiedMatching +obo:GARD_17646 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch Orphanet:397959 semapv:UnspecifiedMatching +obo:GARD_17646 TCR-alpha-beta-positive T-cell deficiency skos:narrowMatch OMIM:615387 semapv:UnspecifiedMatching +obo:GARD_17647 Combined immunodeficiency due to MALT1 deficiency skos:exactMatch Orphanet:397964 semapv:UnspecifiedMatching +obo:GARD_17647 Combined immunodeficiency due to MALT1 deficiency skos:narrowMatch OMIM:615468 semapv:UnspecifiedMatching +obo:GARD_17648 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch Orphanet:397973 semapv:UnspecifiedMatching +obo:GARD_17648 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:narrowMatch OMIM:606772 semapv:UnspecifiedMatching +obo:GARD_17649 Focal facial dermal dysplasia type II skos:exactMatch Orphanet:398173 semapv:UnspecifiedMatching +obo:GARD_17649 Focal facial dermal dysplasia type II skos:narrowMatch OMIM:614973 semapv:UnspecifiedMatching +obo:GARD_17650 Focal facial dermal dysplasia type IV skos:exactMatch Orphanet:398189 semapv:UnspecifiedMatching +obo:GARD_17650 Focal facial dermal dysplasia type IV skos:narrowMatch OMIM:614974 semapv:UnspecifiedMatching +obo:GARD_17651 Alpha-B crystallin-related late-onset myopathy skos:exactMatch Orphanet:399058 semapv:UnspecifiedMatching +obo:GARD_17651 Alpha-B crystallin-related late-onset myopathy skos:narrowMatch OMIM:608810 semapv:UnspecifiedMatching +obo:GARD_17652 Finnish upper limb-onset distal myopathy skos:exactMatch Orphanet:399086 semapv:UnspecifiedMatching +obo:GARD_17652 Finnish upper limb-onset distal myopathy skos:narrowMatch OMIM:610099 semapv:UnspecifiedMatching +obo:GARD_17653 Distal anoctaminopathy skos:exactMatch Orphanet:399096 semapv:UnspecifiedMatching +obo:GARD_17653 Distal anoctaminopathy skos:narrowMatch OMIM:613319 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:102530 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:243060 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:301059 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:613958 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:615413 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619044 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619094 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619095 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619102 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619144 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619145 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619177 semapv:UnspecifiedMatching +obo:GARD_17654 Male infertility with teratozoospermia due to single gene mutation skos:narrowMatch OMIM:619258 semapv:UnspecifiedMatching +obo:GARD_17655 Pancytopenia-developmental delay syndrome skos:exactMatch Orphanet:401764 semapv:UnspecifiedMatching +obo:GARD_17655 Pancytopenia-developmental delay syndrome skos:narrowMatch OMIM:615715 semapv:UnspecifiedMatching +obo:GARD_17656 Autosomal recessive spastic paraplegia type 61 skos:exactMatch Orphanet:401780 semapv:UnspecifiedMatching +obo:GARD_17656 Autosomal recessive spastic paraplegia type 61 skos:narrowMatch OMIM:615685 semapv:UnspecifiedMatching +obo:GARD_17657 Autosomal recessive spastic paraplegia type 62 skos:exactMatch Orphanet:401785 semapv:UnspecifiedMatching +obo:GARD_17657 Autosomal recessive spastic paraplegia type 62 skos:narrowMatch OMIM:615681 semapv:UnspecifiedMatching +obo:GARD_17658 Autosomal recessive spastic paraplegia type 63 skos:exactMatch Orphanet:401805 semapv:UnspecifiedMatching +obo:GARD_17658 Autosomal recessive spastic paraplegia type 63 skos:narrowMatch OMIM:615686 semapv:UnspecifiedMatching +obo:GARD_17659 Autosomal recessive spastic paraplegia type 64 skos:exactMatch Orphanet:401810 semapv:UnspecifiedMatching +obo:GARD_17659 Autosomal recessive spastic paraplegia type 64 skos:narrowMatch OMIM:615683 semapv:UnspecifiedMatching +obo:GARD_17660 Autosomal spastic paraplegia type 72 skos:exactMatch Orphanet:401849 semapv:UnspecifiedMatching +obo:GARD_17660 Autosomal spastic paraplegia type 72 skos:narrowMatch OMIM:615625 semapv:UnspecifiedMatching +obo:GARD_17661 Multiple mitochondrial dysfunctions syndrome type 1 skos:exactMatch Orphanet:401869 semapv:UnspecifiedMatching +obo:GARD_17661 Multiple mitochondrial dysfunctions syndrome type 1 skos:narrowMatch OMIM:605711 semapv:UnspecifiedMatching +obo:GARD_17662 Multiple mitochondrial dysfunctions syndrome type 2 skos:exactMatch Orphanet:401874 semapv:UnspecifiedMatching +obo:GARD_17662 Multiple mitochondrial dysfunctions syndrome type 2 skos:narrowMatch OMIM:614299 semapv:UnspecifiedMatching +obo:GARD_17663 Familial median cleft of the upper and lower lips skos:exactMatch Orphanet:401942 semapv:UnspecifiedMatching +obo:GARD_17663 Familial median cleft of the upper and lower lips skos:narrowMatch OMIM:615892 semapv:UnspecifiedMatching +obo:GARD_17664 Moyamoya disease with early-onset achalasia skos:exactMatch Orphanet:401945 semapv:UnspecifiedMatching +obo:GARD_17664 Moyamoya disease with early-onset achalasia skos:narrowMatch OMIM:615750 semapv:UnspecifiedMatching +obo:GARD_17665 Episodic ataxia with slurred speech skos:exactMatch Orphanet:401953 semapv:UnspecifiedMatching +obo:GARD_17665 Episodic ataxia with slurred speech skos:narrowMatch OMIM:616055 semapv:UnspecifiedMatching +obo:GARD_17666 MEND syndrome skos:exactMatch Orphanet:401973 semapv:UnspecifiedMatching +obo:GARD_17666 MEND syndrome skos:narrowMatch OMIM:300960 semapv:UnspecifiedMatching +obo:GARD_17667 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type skos:exactMatch Orphanet:401979 semapv:UnspecifiedMatching +obo:GARD_17667 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type skos:narrowMatch OMIM:613320 semapv:UnspecifiedMatching +obo:GARD_17668 1p31p32 microdeletion syndrome skos:exactMatch Orphanet:401986 semapv:UnspecifiedMatching +obo:GARD_17668 1p31p32 microdeletion syndrome skos:narrowMatch OMIM:613735 semapv:UnspecifiedMatching +obo:GARD_17669 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering skos:exactMatch Orphanet:402003 semapv:UnspecifiedMatching +obo:GARD_17669 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering skos:narrowMatch OMIM:615735 semapv:UnspecifiedMatching +obo:GARD_17670 Familial bicuspid aortic valve skos:exactMatch Orphanet:402075 semapv:UnspecifiedMatching +obo:GARD_17670 Familial bicuspid aortic valve skos:narrowMatch OMIM:109730 semapv:UnspecifiedMatching +obo:GARD_17670 Familial bicuspid aortic valve skos:narrowMatch OMIM:614823 semapv:UnspecifiedMatching +obo:GARD_17671 Progressive myoclonic epilepsy type 5 skos:exactMatch Orphanet:402082 semapv:UnspecifiedMatching +obo:GARD_17671 Progressive myoclonic epilepsy type 5 skos:narrowMatch OMIM:607459 semapv:UnspecifiedMatching +obo:GARD_17672 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome skos:exactMatch Orphanet:404437 semapv:UnspecifiedMatching +obo:GARD_17672 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome skos:narrowMatch OMIM:615760 semapv:UnspecifiedMatching +obo:GARD_17673 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch Orphanet:404440 semapv:UnspecifiedMatching +obo:GARD_17673 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:narrowMatch OMIM:615761 semapv:UnspecifiedMatching +obo:GARD_17674 Tatton-Brown-Rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching +obo:GARD_17674 Tatton-Brown-Rahman syndrome skos:narrowMatch OMIM:615879 semapv:UnspecifiedMatching +obo:GARD_17675 Female infertility due to zona pellucida defect skos:exactMatch Orphanet:404466 semapv:UnspecifiedMatching +obo:GARD_17675 Female infertility due to zona pellucida defect skos:narrowMatch OMIM:615774 semapv:UnspecifiedMatching +obo:GARD_17675 Female infertility due to zona pellucida defect skos:narrowMatch OMIM:617712 semapv:UnspecifiedMatching +obo:GARD_17675 Female infertility due to zona pellucida defect skos:narrowMatch OMIM:618353 semapv:UnspecifiedMatching +obo:GARD_17676 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome skos:exactMatch Orphanet:404476 semapv:UnspecifiedMatching +obo:GARD_17676 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome skos:narrowMatch OMIM:618272 semapv:UnspecifiedMatching +obo:GARD_17677 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency skos:exactMatch Orphanet:404493 semapv:UnspecifiedMatching +obo:GARD_17677 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency skos:narrowMatch OMIM:616949 semapv:UnspecifiedMatching +obo:GARD_17678 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency skos:exactMatch Orphanet:404499 semapv:UnspecifiedMatching +obo:GARD_17678 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency skos:narrowMatch OMIM:615705 semapv:UnspecifiedMatching +obo:GARD_17679 DITRA skos:exactMatch Orphanet:404546 semapv:UnspecifiedMatching +obo:GARD_17679 DITRA skos:narrowMatch OMIM:614204 semapv:UnspecifiedMatching +obo:GARD_17680 Pontocerebellar hypoplasia type 10 skos:exactMatch Orphanet:411493 semapv:UnspecifiedMatching +obo:GARD_17680 Pontocerebellar hypoplasia type 10 skos:narrowMatch OMIM:615803 semapv:UnspecifiedMatching +obo:GARD_17681 Mild phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411536 semapv:UnspecifiedMatching +obo:GARD_17681 Mild phosphoribosylpyrophosphate synthetase superactivity skos:narrowMatch OMIM:300661 semapv:UnspecifiedMatching +obo:GARD_17682 Severe phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411543 semapv:UnspecifiedMatching +obo:GARD_17682 Severe phosphoribosylpyrophosphate synthetase superactivity skos:narrowMatch OMIM:300661 semapv:UnspecifiedMatching +obo:GARD_17683 Wolfram-like syndrome skos:exactMatch Orphanet:411590 semapv:UnspecifiedMatching +obo:GARD_17683 Wolfram-like syndrome skos:narrowMatch OMIM:614296 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:exactMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:168601 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:605543 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:607060 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:607688 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:614203 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:614251 semapv:UnspecifiedMatching +obo:GARD_17684 Hereditary late-onset Parkinson disease skos:narrowMatch OMIM:616361 semapv:UnspecifiedMatching +obo:GARD_17685 Juvenile nephropathic cystinosis skos:exactMatch Orphanet:411634 semapv:UnspecifiedMatching +obo:GARD_17685 Juvenile nephropathic cystinosis skos:narrowMatch OMIM:219900 semapv:UnspecifiedMatching +obo:GARD_17686 Maternal riboflavin deficiency skos:exactMatch Orphanet:411712 semapv:UnspecifiedMatching +obo:GARD_17686 Maternal riboflavin deficiency skos:narrowMatch OMIM:615026 semapv:UnspecifiedMatching +obo:GARD_17687 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:411986 semapv:UnspecifiedMatching +obo:GARD_17687 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome skos:narrowMatch OMIM:615859 semapv:UnspecifiedMatching +obo:GARD_17688 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch Orphanet:412022 semapv:UnspecifiedMatching +obo:GARD_17688 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:narrowMatch OMIM:601552 semapv:UnspecifiedMatching +obo:GARD_17689 Autosomal recessive cerebellar ataxia due to STUB1 deficiency skos:exactMatch Orphanet:412057 semapv:UnspecifiedMatching +obo:GARD_17689 Autosomal recessive cerebellar ataxia due to STUB1 deficiency skos:narrowMatch OMIM:615768 semapv:UnspecifiedMatching +obo:GARD_17690 Epidermolysis bullosa simplex due to BP230 deficiency skos:exactMatch Orphanet:412181 semapv:UnspecifiedMatching +obo:GARD_17690 Epidermolysis bullosa simplex due to BP230 deficiency skos:narrowMatch OMIM:615425 semapv:UnspecifiedMatching +obo:GARD_17691 Epidermolysis bullosa simplex due to exophilin 5 deficiency skos:exactMatch Orphanet:412189 semapv:UnspecifiedMatching +obo:GARD_17691 Epidermolysis bullosa simplex due to exophilin 5 deficiency skos:narrowMatch OMIM:615028 semapv:UnspecifiedMatching +obo:GARD_17692 Primary failure of tooth eruption skos:exactMatch Orphanet:412206 semapv:UnspecifiedMatching +obo:GARD_17692 Primary failure of tooth eruption skos:narrowMatch OMIM:125350 semapv:UnspecifiedMatching +obo:GARD_17693 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:exactMatch Orphanet:420485 semapv:UnspecifiedMatching +obo:GARD_17693 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:narrowMatch OMIM:615034 semapv:UnspecifiedMatching +obo:GARD_17694 Adult-onset cervical dystonia, DYT23 type skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching +obo:GARD_17694 Adult-onset cervical dystonia, DYT23 type skos:narrowMatch OMIM:614860 semapv:UnspecifiedMatching +obo:GARD_17695 Bleeding disorder due to CalDAG-GEFI deficiency skos:exactMatch Orphanet:420566 semapv:UnspecifiedMatching +obo:GARD_17695 Bleeding disorder due to CalDAG-GEFI deficiency skos:narrowMatch OMIM:615888 semapv:UnspecifiedMatching +obo:GARD_17696 Severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch Orphanet:420573 semapv:UnspecifiedMatching +obo:GARD_17696 Severe combined immunodeficiency due to CTPS1 deficiency skos:narrowMatch OMIM:615897 semapv:UnspecifiedMatching +obo:GARD_17697 Woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:420686 semapv:UnspecifiedMatching +obo:GARD_17697 Woolly hair-palmoplantar keratoderma syndrome skos:narrowMatch OMIM:616099 semapv:UnspecifiedMatching +obo:GARD_17698 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch Orphanet:420702 semapv:UnspecifiedMatching +obo:GARD_17698 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:narrowMatch OMIM:617014 semapv:UnspecifiedMatching +obo:GARD_17699 Combined oxidative phosphorylation defect type 20 skos:exactMatch Orphanet:420728 semapv:UnspecifiedMatching +obo:GARD_17699 Combined oxidative phosphorylation defect type 20 skos:narrowMatch OMIM:615917 semapv:UnspecifiedMatching +obo:GARD_177 Macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch Orphanet:2432 semapv:UnspecifiedMatching +obo:GARD_177 Macrosomia-microphthalmia-cleft palate syndrome skos:narrowMatch OMIM:248110 semapv:UnspecifiedMatching +obo:GARD_17700 Combined oxidative phosphorylation defect type 21 skos:exactMatch Orphanet:420733 semapv:UnspecifiedMatching +obo:GARD_17700 Combined oxidative phosphorylation defect type 21 skos:narrowMatch OMIM:615918 semapv:UnspecifiedMatching +obo:GARD_17701 RIDDLE syndrome skos:exactMatch Orphanet:420741 semapv:UnspecifiedMatching +obo:GARD_17701 RIDDLE syndrome skos:narrowMatch OMIM:611943 semapv:UnspecifiedMatching +obo:GARD_17702 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch Orphanet:423384 semapv:UnspecifiedMatching +obo:GARD_17702 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:narrowMatch OMIM:616022 semapv:UnspecifiedMatching +obo:GARD_17703 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch Orphanet:423454 semapv:UnspecifiedMatching +obo:GARD_17703 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:narrowMatch OMIM:616029 semapv:UnspecifiedMatching +obo:GARD_17704 Mucolipidosis type III alpha/beta skos:exactMatch Orphanet:423461 semapv:UnspecifiedMatching +obo:GARD_17704 Mucolipidosis type III alpha/beta skos:narrowMatch OMIM:252600 semapv:UnspecifiedMatching +obo:GARD_17705 Mucolipidosis type III gamma skos:exactMatch Orphanet:423470 semapv:UnspecifiedMatching +obo:GARD_17705 Mucolipidosis type III gamma skos:narrowMatch OMIM:252605 semapv:UnspecifiedMatching +obo:GARD_17706 Progressive myoclonic epilepsy type 8 skos:exactMatch Orphanet:424027 semapv:UnspecifiedMatching +obo:GARD_17706 Progressive myoclonic epilepsy type 8 skos:narrowMatch OMIM:616230 semapv:UnspecifiedMatching +obo:GARD_17707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:424099 semapv:UnspecifiedMatching +obo:GARD_17707 Colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:narrowMatch OMIM:615877 semapv:UnspecifiedMatching +obo:GARD_17708 TOR1AIP1-related limb-girdle muscular dystrophy skos:exactMatch Orphanet:424261 semapv:UnspecifiedMatching +obo:GARD_17708 TOR1AIP1-related limb-girdle muscular dystrophy skos:narrowMatch OMIM:617072 semapv:UnspecifiedMatching +obo:GARD_17709 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch Orphanet:431140 semapv:UnspecifiedMatching +obo:GARD_17709 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:narrowMatch OMIM:300915 semapv:UnspecifiedMatching +obo:GARD_17710 Combined immunodeficiency due to OX40 deficiency skos:exactMatch Orphanet:431149 semapv:UnspecifiedMatching +obo:GARD_17710 Combined immunodeficiency due to OX40 deficiency skos:narrowMatch OMIM:615593 semapv:UnspecifiedMatching +obo:GARD_17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch Orphanet:431166 semapv:UnspecifiedMatching +obo:GARD_17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:narrowMatch OMIM:616636 semapv:UnspecifiedMatching +obo:GARD_17711 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:narrowMatch OMIM:616669 semapv:UnspecifiedMatching +obo:GARD_17712 Autosomal recessive spastic paraplegia type 57 skos:exactMatch Orphanet:431329 semapv:UnspecifiedMatching +obo:GARD_17712 Autosomal recessive spastic paraplegia type 57 skos:narrowMatch OMIM:615658 semapv:UnspecifiedMatching +obo:GARD_17713 Familial ossifying fibroma skos:exactMatch Orphanet:435329 semapv:UnspecifiedMatching +obo:GARD_17713 Familial ossifying fibroma skos:narrowMatch OMIM:137575 semapv:UnspecifiedMatching +obo:GARD_17714 Autosomal dominant Charcot-Marie-Tooth disease type 2Y skos:exactMatch Orphanet:435387 semapv:UnspecifiedMatching +obo:GARD_17714 Autosomal dominant Charcot-Marie-Tooth disease type 2Y skos:narrowMatch OMIM:616687 semapv:UnspecifiedMatching +obo:GARD_17715 Progressive myoclonic epilepsy type 7 skos:exactMatch Orphanet:435438 semapv:UnspecifiedMatching +obo:GARD_17715 Progressive myoclonic epilepsy type 7 skos:narrowMatch OMIM:616187 semapv:UnspecifiedMatching +obo:GARD_17716 Keppen-Lubinsky syndrome skos:exactMatch Orphanet:435628 semapv:UnspecifiedMatching +obo:GARD_17716 Keppen-Lubinsky syndrome skos:narrowMatch OMIM:614098 semapv:UnspecifiedMatching +obo:GARD_17717 Short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch Orphanet:435804 semapv:UnspecifiedMatching +obo:GARD_17717 Short stature-advanced bone age-early-onset osteoarthritis syndrome skos:narrowMatch OMIM:165800 semapv:UnspecifiedMatching +obo:GARD_17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:exactMatch Orphanet:435845 semapv:UnspecifiedMatching +obo:GARD_17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:narrowMatch OMIM:614498 semapv:UnspecifiedMatching +obo:GARD_17718 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:narrowMatch OMIM:618056 semapv:UnspecifiedMatching +obo:GARD_17719 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 semapv:UnspecifiedMatching +obo:GARD_17719 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:narrowMatch OMIM:212550 semapv:UnspecifiedMatching +obo:GARD_17720 COG2-CDG skos:exactMatch Orphanet:435934 semapv:UnspecifiedMatching +obo:GARD_17720 COG2-CDG skos:narrowMatch OMIM:617395 semapv:UnspecifiedMatching +obo:GARD_17721 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:exactMatch Orphanet:435938 semapv:UnspecifiedMatching +obo:GARD_17721 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:narrowMatch OMIM:300998 semapv:UnspecifiedMatching +obo:GARD_17722 Progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch Orphanet:435953 semapv:UnspecifiedMatching +obo:GARD_17722 Progeroid features-hepatocellular carcinoma predisposition syndrome skos:narrowMatch OMIM:616200 semapv:UnspecifiedMatching +obo:GARD_17723 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D skos:exactMatch Orphanet:435998 semapv:UnspecifiedMatching +obo:GARD_17723 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D skos:narrowMatch OMIM:616039 semapv:UnspecifiedMatching +obo:GARD_17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:exactMatch Orphanet:436151 semapv:UnspecifiedMatching +obo:GARD_17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:narrowMatch OMIM:616078 semapv:UnspecifiedMatching +obo:GARD_17724 Intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:narrowMatch OMIM:616083 semapv:UnspecifiedMatching +obo:GARD_17725 Periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch Orphanet:436166 semapv:UnspecifiedMatching +obo:GARD_17725 Periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:narrowMatch OMIM:616050 semapv:UnspecifiedMatching +obo:GARD_17726 Thrombomodulin-related bleeding disorder skos:exactMatch Orphanet:436169 semapv:UnspecifiedMatching +obo:GARD_17726 Thrombomodulin-related bleeding disorder skos:narrowMatch OMIM:614486 semapv:UnspecifiedMatching +obo:GARD_17727 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch Orphanet:436174 semapv:UnspecifiedMatching +obo:GARD_17727 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:narrowMatch OMIM:616007 semapv:UnspecifiedMatching +obo:GARD_17728 Microcephalic primordial dwarfism-insulin resistance syndrome skos:exactMatch Orphanet:436182 semapv:UnspecifiedMatching +obo:GARD_17728 Microcephalic primordial dwarfism-insulin resistance syndrome skos:narrowMatch OMIM:616541 semapv:UnspecifiedMatching +obo:GARD_17728 Microcephalic primordial dwarfism-insulin resistance syndrome skos:narrowMatch OMIM:617253 semapv:UnspecifiedMatching +obo:GARD_17729 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease skos:exactMatch Orphanet:436242 semapv:UnspecifiedMatching +obo:GARD_17729 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease skos:narrowMatch OMIM:616117 semapv:UnspecifiedMatching +obo:GARD_17730 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch Orphanet:436245 semapv:UnspecifiedMatching +obo:GARD_17730 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:narrowMatch OMIM:616108 semapv:UnspecifiedMatching +obo:GARD_17731 Combined immunodeficiency-enteropathy spectrum skos:exactMatch Orphanet:436252 semapv:UnspecifiedMatching +obo:GARD_17731 Combined immunodeficiency-enteropathy spectrum skos:narrowMatch OMIM:243150 semapv:UnspecifiedMatching +obo:GARD_17732 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch Orphanet:437552 semapv:UnspecifiedMatching +obo:GARD_17732 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:narrowMatch OMIM:615707 semapv:UnspecifiedMatching +obo:GARD_17733 Ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch Orphanet:438075 semapv:UnspecifiedMatching +obo:GARD_17733 Ketoacidosis due to monocarboxylate transporter-1 deficiency skos:narrowMatch OMIM:616095 semapv:UnspecifiedMatching +obo:GARD_17734 RARS-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:438114 semapv:UnspecifiedMatching +obo:GARD_17734 RARS-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:616140 semapv:UnspecifiedMatching +obo:GARD_17735 Steel syndrome skos:exactMatch Orphanet:438117 semapv:UnspecifiedMatching +obo:GARD_17735 Steel syndrome skos:narrowMatch OMIM:615155 semapv:UnspecifiedMatching +obo:GARD_17736 PCNA-related progressive neurodegenerative photosensitivity syndrome skos:exactMatch Orphanet:438134 semapv:UnspecifiedMatching +obo:GARD_17736 PCNA-related progressive neurodegenerative photosensitivity syndrome skos:narrowMatch OMIM:615919 semapv:UnspecifiedMatching +obo:GARD_17737 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch Orphanet:438159 semapv:UnspecifiedMatching +obo:GARD_17737 STAT3-related early-onset multisystem autoimmune disease skos:narrowMatch OMIM:615952 semapv:UnspecifiedMatching +obo:GARD_17738 Severe autosomal recessive macrothrombocytopenia skos:exactMatch Orphanet:438207 semapv:UnspecifiedMatching +obo:GARD_17738 Severe autosomal recessive macrothrombocytopenia skos:narrowMatch OMIM:616176 semapv:UnspecifiedMatching +obo:GARD_17739 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:exactMatch Orphanet:438213 semapv:UnspecifiedMatching +obo:GARD_17739 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome skos:narrowMatch OMIM:616158 semapv:UnspecifiedMatching +obo:GARD_17740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch Orphanet:438216 semapv:UnspecifiedMatching +obo:GARD_17740 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:narrowMatch OMIM:616158 semapv:UnspecifiedMatching +obo:GARD_17741 ITM2B amyloidosis skos:exactMatch Orphanet:439254 semapv:UnspecifiedMatching +obo:GARD_17741 ITM2B amyloidosis skos:narrowMatch OMIM:117300 semapv:UnspecifiedMatching +obo:GARD_17741 ITM2B amyloidosis skos:narrowMatch OMIM:176500 semapv:UnspecifiedMatching +obo:GARD_17742 PDE4D haploinsufficiency syndrome skos:exactMatch Orphanet:439822 semapv:UnspecifiedMatching +obo:GARD_17742 PDE4D haploinsufficiency syndrome skos:narrowMatch OMIM:615668 semapv:UnspecifiedMatching +obo:GARD_17743 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch Orphanet:439897 semapv:UnspecifiedMatching +obo:GARD_17743 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:narrowMatch OMIM:616258 semapv:UnspecifiedMatching +obo:GARD_17744 Interstitial lung disease due to SP-C deficiency skos:exactMatch Orphanet:440392 semapv:UnspecifiedMatching +obo:GARD_17744 Interstitial lung disease due to SP-C deficiency skos:narrowMatch OMIM:610913 semapv:UnspecifiedMatching +obo:GARD_17745 Interstitial lung disease due to ABCA3 deficiency skos:exactMatch Orphanet:440402 semapv:UnspecifiedMatching +obo:GARD_17745 Interstitial lung disease due to ABCA3 deficiency skos:narrowMatch OMIM:610921 semapv:UnspecifiedMatching +obo:GARD_17746 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch Orphanet:440427 semapv:UnspecifiedMatching +obo:GARD_17746 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:narrowMatch OMIM:615486 semapv:UnspecifiedMatching +obo:GARD_17747 Ribose-5-P isomerase deficiency skos:exactMatch Orphanet:440706 semapv:UnspecifiedMatching +obo:GARD_17747 Ribose-5-P isomerase deficiency skos:narrowMatch OMIM:608611 semapv:UnspecifiedMatching +obo:GARD_17748 L-ferritin deficiency skos:exactMatch Orphanet:440731 semapv:UnspecifiedMatching +obo:GARD_17748 L-ferritin deficiency skos:narrowMatch OMIM:615604 semapv:UnspecifiedMatching +obo:GARD_17749 Sporadic porphyria cutanea tarda skos:exactMatch Orphanet:443057 semapv:UnspecifiedMatching +obo:GARD_17749 Sporadic porphyria cutanea tarda skos:narrowMatch OMIM:176090 semapv:UnspecifiedMatching +obo:GARD_17750 Familial porphyria cutanea tarda skos:exactMatch Orphanet:443062 semapv:UnspecifiedMatching +obo:GARD_17750 Familial porphyria cutanea tarda skos:narrowMatch OMIM:176100 semapv:UnspecifiedMatching +obo:GARD_17751 Charcot-Marie-Tooth disease type 2S skos:exactMatch Orphanet:443073 semapv:UnspecifiedMatching +obo:GARD_17751 Charcot-Marie-Tooth disease type 2S skos:narrowMatch OMIM:616155 semapv:UnspecifiedMatching +obo:GARD_17752 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch Orphanet:443087 semapv:UnspecifiedMatching +obo:GARD_17752 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:narrowMatch OMIM:614279 semapv:UnspecifiedMatching +obo:GARD_17753 Hyperostosis cranialis interna skos:exactMatch Orphanet:443098 semapv:UnspecifiedMatching +obo:GARD_17753 Hyperostosis cranialis interna skos:narrowMatch OMIM:144755 semapv:UnspecifiedMatching +obo:GARD_17754 Classic stiff person syndrome skos:exactMatch Orphanet:443192 semapv:UnspecifiedMatching +obo:GARD_17754 Classic stiff person syndrome skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +obo:GARD_17755 X-linked erythropoietic protoporphyria skos:exactMatch Orphanet:443197 semapv:UnspecifiedMatching +obo:GARD_17755 X-linked erythropoietic protoporphyria skos:narrowMatch OMIM:300752 semapv:UnspecifiedMatching +obo:GARD_17756 Focal stiff limb syndrome skos:exactMatch Orphanet:443804 semapv:UnspecifiedMatching +obo:GARD_17756 Focal stiff limb syndrome skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +obo:GARD_17757 Ventriculomegaly-cystic kidney disease skos:exactMatch Orphanet:443988 semapv:UnspecifiedMatching +obo:GARD_17757 Ventriculomegaly-cystic kidney disease skos:narrowMatch OMIM:219730 semapv:UnspecifiedMatching +obo:GARD_17758 Mandibulofacial dysostosis with alopecia skos:exactMatch Orphanet:443995 semapv:UnspecifiedMatching +obo:GARD_17758 Mandibulofacial dysostosis with alopecia skos:narrowMatch OMIM:616367 semapv:UnspecifiedMatching +obo:GARD_17759 Combined oxidative phosphorylation defect type 23 skos:exactMatch Orphanet:444013 semapv:UnspecifiedMatching +obo:GARD_17759 Combined oxidative phosphorylation defect type 23 skos:narrowMatch OMIM:616198 semapv:UnspecifiedMatching +obo:GARD_17760 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch Orphanet:444048 semapv:UnspecifiedMatching +obo:GARD_17760 46,XX ovarian dysgenesis-short stature syndrome skos:narrowMatch OMIM:616185 semapv:UnspecifiedMatching +obo:GARD_17761 Cerebellar-facial-dental syndrome skos:exactMatch Orphanet:444072 semapv:UnspecifiedMatching +obo:GARD_17761 Cerebellar-facial-dental syndrome skos:narrowMatch OMIM:616202 semapv:UnspecifiedMatching +obo:GARD_17762 Autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch Orphanet:444092 semapv:UnspecifiedMatching +obo:GARD_17762 Autoimmune interstitial lung disease-arthritis syndrome skos:narrowMatch OMIM:616414 semapv:UnspecifiedMatching +obo:GARD_17763 Autosomal dominant spastic paraplegia type 73 skos:exactMatch Orphanet:444099 semapv:UnspecifiedMatching +obo:GARD_17763 Autosomal dominant spastic paraplegia type 73 skos:narrowMatch OMIM:616282 semapv:UnspecifiedMatching +obo:GARD_17764 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch Orphanet:444138 semapv:UnspecifiedMatching +obo:GARD_17764 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:narrowMatch OMIM:616295 semapv:UnspecifiedMatching +obo:GARD_17765 Combined oxidative phosphorylation defect type 24 skos:exactMatch Orphanet:444458 semapv:UnspecifiedMatching +obo:GARD_17765 Combined oxidative phosphorylation defect type 24 skos:narrowMatch OMIM:616239 semapv:UnspecifiedMatching +obo:GARD_17766 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:exactMatch Orphanet:444463 semapv:UnspecifiedMatching +obo:GARD_17766 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:narrowMatch OMIM:619220 semapv:UnspecifiedMatching +obo:GARD_17767 3-methylglutaconic aciduria type 7 skos:exactMatch Orphanet:445038 semapv:UnspecifiedMatching +obo:GARD_17767 3-methylglutaconic aciduria type 7 skos:narrowMatch OMIM:616271 semapv:UnspecifiedMatching +obo:GARD_17768 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch Orphanet:445062 semapv:UnspecifiedMatching +obo:GARD_17768 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:narrowMatch OMIM:616192 semapv:UnspecifiedMatching +obo:GARD_17769 Limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch Orphanet:445110 semapv:UnspecifiedMatching +obo:GARD_17769 Limb-girdle muscular dystrophy due to POMK deficiency skos:narrowMatch OMIM:616094 semapv:UnspecifiedMatching +obo:GARD_17770 Autosomal recessive spastic paraplegia type 9B skos:exactMatch Orphanet:447760 semapv:UnspecifiedMatching +obo:GARD_17770 Autosomal recessive spastic paraplegia type 9B skos:narrowMatch OMIM:616586 semapv:UnspecifiedMatching +obo:GARD_17771 Mitochondrial pyruvate carrier deficiency skos:exactMatch Orphanet:447784 semapv:UnspecifiedMatching +obo:GARD_17771 Mitochondrial pyruvate carrier deficiency skos:narrowMatch OMIM:614741 semapv:UnspecifiedMatching +obo:GARD_17772 Polymerase proofreading-related adenomatous polyposis skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching +obo:GARD_17772 Polymerase proofreading-related adenomatous polyposis skos:narrowMatch OMIM:612591 semapv:UnspecifiedMatching +obo:GARD_17772 Polymerase proofreading-related adenomatous polyposis skos:narrowMatch OMIM:615083 semapv:UnspecifiedMatching +obo:GARD_17773 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch Orphanet:447893 semapv:UnspecifiedMatching +obo:GARD_17773 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +obo:GARD_17774 Tremor-ataxia-central hypomyelination syndrome skos:exactMatch Orphanet:447896 semapv:UnspecifiedMatching +obo:GARD_17774 Tremor-ataxia-central hypomyelination syndrome skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +obo:GARD_17775 Combined oxidative phosphorylation defect type 25 skos:exactMatch Orphanet:447954 semapv:UnspecifiedMatching +obo:GARD_17775 Combined oxidative phosphorylation defect type 25 skos:narrowMatch OMIM:616430 semapv:UnspecifiedMatching +obo:GARD_17776 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch Orphanet:447961 semapv:UnspecifiedMatching +obo:GARD_17776 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:narrowMatch OMIM:618373 semapv:UnspecifiedMatching +obo:GARD_17777 Autosomal dominant Charcot-Marie-Tooth disease type 2V skos:exactMatch Orphanet:447964 semapv:UnspecifiedMatching +obo:GARD_17777 Autosomal dominant Charcot-Marie-Tooth disease type 2V skos:narrowMatch OMIM:616491 semapv:UnspecifiedMatching +obo:GARD_17778 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch Orphanet:447974 semapv:UnspecifiedMatching +obo:GARD_17778 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:narrowMatch OMIM:616549 semapv:UnspecifiedMatching +obo:GARD_17779 Progressive scapulohumeroperoneal distal myopathy skos:exactMatch Orphanet:447977 semapv:UnspecifiedMatching +obo:GARD_17779 Progressive scapulohumeroperoneal distal myopathy skos:narrowMatch OMIM:616852 semapv:UnspecifiedMatching +obo:GARD_17780 Progressive autosomal recessive ataxia-deafness syndrome skos:exactMatch Orphanet:448251 semapv:UnspecifiedMatching +obo:GARD_17780 Progressive autosomal recessive ataxia-deafness syndrome skos:narrowMatch OMIM:616291 semapv:UnspecifiedMatching +obo:GARD_17781 Isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:448264 semapv:UnspecifiedMatching +obo:GARD_17781 Isolated focal non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:613000 semapv:UnspecifiedMatching +obo:GARD_17781 Isolated focal non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:616400 semapv:UnspecifiedMatching +obo:GARD_17782 Regressive spondylometaphyseal dysplasia skos:exactMatch Orphanet:448267 semapv:UnspecifiedMatching +obo:GARD_17782 Regressive spondylometaphyseal dysplasia skos:narrowMatch OMIM:618019 semapv:UnspecifiedMatching +obo:GARD_17783 Symptomatic form of fragile X syndrome in female carriers skos:exactMatch Orphanet:449291 semapv:UnspecifiedMatching +obo:GARD_17783 Symptomatic form of fragile X syndrome in female carriers skos:narrowMatch OMIM:300624 semapv:UnspecifiedMatching +obo:GARD_17784 Familial congenital nasolacrimal duct obstruction skos:exactMatch Orphanet:451612 semapv:UnspecifiedMatching +obo:GARD_17784 Familial congenital nasolacrimal duct obstruction skos:narrowMatch OMIM:149700 semapv:UnspecifiedMatching +obo:GARD_17785 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome skos:exactMatch Orphanet:453499 semapv:UnspecifiedMatching +obo:GARD_17785 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome skos:narrowMatch OMIM:616580 semapv:UnspecifiedMatching +obo:GARD_17786 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency skos:exactMatch Orphanet:453521 semapv:UnspecifiedMatching +obo:GARD_17786 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency skos:narrowMatch OMIM:616127 semapv:UnspecifiedMatching +obo:GARD_17787 Polyendocrine-polyneuropathy syndrome skos:exactMatch Orphanet:453533 semapv:UnspecifiedMatching +obo:GARD_17787 Polyendocrine-polyneuropathy syndrome skos:narrowMatch OMIM:616113 semapv:UnspecifiedMatching +obo:GARD_17788 Acquired Creutzfeldt-Jakob disease skos:exactMatch Orphanet:454700 semapv:UnspecifiedMatching +obo:GARD_17788 Acquired Creutzfeldt-Jakob disease skos:narrowMatch OMIM:123400 semapv:UnspecifiedMatching +obo:GARD_17789 Pleomorphic salivary gland adenoma skos:exactMatch Orphanet:454821 semapv:UnspecifiedMatching +obo:GARD_17789 Pleomorphic salivary gland adenoma skos:narrowMatch OMIM:181030 semapv:UnspecifiedMatching +obo:GARD_17790 NTHL1-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:454840 semapv:UnspecifiedMatching +obo:GARD_17790 NTHL1-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:616415 semapv:UnspecifiedMatching +obo:GARD_17791 Infantile multisystem neurologic-endocrine-pancreatic disease skos:exactMatch Orphanet:456312 semapv:UnspecifiedMatching +obo:GARD_17791 Infantile multisystem neurologic-endocrine-pancreatic disease skos:narrowMatch OMIM:616263 semapv:UnspecifiedMatching +obo:GARD_17792 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch Orphanet:456328 semapv:UnspecifiedMatching +obo:GARD_17792 X-linked myotubular myopathy-abnormal genitalia syndrome skos:narrowMatch OMIM:300219 semapv:UnspecifiedMatching +obo:GARD_17793 Polyglucosan body myopathy type 2 skos:exactMatch Orphanet:456369 semapv:UnspecifiedMatching +obo:GARD_17793 Polyglucosan body myopathy type 2 skos:narrowMatch OMIM:616199 semapv:UnspecifiedMatching +obo:GARD_17794 Autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch Orphanet:457050 semapv:UnspecifiedMatching +obo:GARD_17794 Autosomal dominant mitochondrial myopathy with exercise intolerance skos:narrowMatch OMIM:616209 semapv:UnspecifiedMatching +obo:GARD_17795 Predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch Orphanet:457088 semapv:UnspecifiedMatching +obo:GARD_17795 Predisposition to invasive fungal disease due to CARD9 deficiency skos:narrowMatch OMIM:212050 semapv:UnspecifiedMatching +obo:GARD_17796 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch Orphanet:457185 semapv:UnspecifiedMatching +obo:GARD_17796 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:narrowMatch OMIM:616276 semapv:UnspecifiedMatching +obo:GARD_17797 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching +obo:GARD_17797 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:narrowMatch OMIM:616268 semapv:UnspecifiedMatching +obo:GARD_17798 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch Orphanet:457212 semapv:UnspecifiedMatching +obo:GARD_17798 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:narrowMatch OMIM:616269 semapv:UnspecifiedMatching +obo:GARD_17799 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:exactMatch Orphanet:457223 semapv:UnspecifiedMatching +obo:GARD_17799 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:narrowMatch OMIM:617872 semapv:UnspecifiedMatching +obo:GARD_178 MOMO syndrome skos:exactMatch Orphanet:2563 semapv:UnspecifiedMatching +obo:GARD_178 MOMO syndrome skos:narrowMatch OMIM:157980 semapv:UnspecifiedMatching +obo:GARD_17800 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching +obo:GARD_17800 X-linked intellectual disability-short stature-overweight syndrome skos:narrowMatch OMIM:300957 semapv:UnspecifiedMatching +obo:GARD_17801 Progressive myoclonic epilepsy type 9 skos:exactMatch Orphanet:457265 semapv:UnspecifiedMatching +obo:GARD_17801 Progressive myoclonic epilepsy type 9 skos:narrowMatch OMIM:616540 semapv:UnspecifiedMatching +obo:GARD_17802 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:exactMatch Orphanet:457279 semapv:UnspecifiedMatching +obo:GARD_17802 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:narrowMatch OMIM:616355 semapv:UnspecifiedMatching +obo:GARD_17803 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:457284 semapv:UnspecifiedMatching +obo:GARD_17803 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:narrowMatch OMIM:616362 semapv:UnspecifiedMatching +obo:GARD_17804 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch Orphanet:457351 semapv:UnspecifiedMatching +obo:GARD_17804 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:narrowMatch OMIM:616577 semapv:UnspecifiedMatching +obo:GARD_17805 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:exactMatch Orphanet:457359 semapv:UnspecifiedMatching +obo:GARD_17805 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:narrowMatch OMIM:617011 semapv:UnspecifiedMatching +obo:GARD_17806 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching +obo:GARD_17806 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement skos:narrowMatch OMIM:616647 semapv:UnspecifiedMatching +obo:GARD_17807 Complex lethal osteochondrodysplasia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching +obo:GARD_17807 Complex lethal osteochondrodysplasia skos:narrowMatch OMIM:616897 semapv:UnspecifiedMatching +obo:GARD_17808 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch Orphanet:457395 semapv:UnspecifiedMatching +obo:GARD_17808 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:narrowMatch OMIM:616723 semapv:UnspecifiedMatching +obo:GARD_17809 Multiple mitochondrial dysfunctions syndrome type 4 skos:exactMatch Orphanet:457406 semapv:UnspecifiedMatching +obo:GARD_17809 Multiple mitochondrial dysfunctions syndrome type 4 skos:narrowMatch OMIM:616370 semapv:UnspecifiedMatching +obo:GARD_17810 Spinocerebellar ataxia type 41 skos:exactMatch Orphanet:458798 semapv:UnspecifiedMatching +obo:GARD_17810 Spinocerebellar ataxia type 41 skos:narrowMatch OMIM:616410 semapv:UnspecifiedMatching +obo:GARD_17811 Spinocerebellar ataxia type 42 skos:exactMatch Orphanet:458803 semapv:UnspecifiedMatching +obo:GARD_17811 Spinocerebellar ataxia type 42 skos:narrowMatch OMIM:616795 semapv:UnspecifiedMatching +obo:GARD_17812 Spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch Orphanet:459051 semapv:UnspecifiedMatching +obo:GARD_17812 Spondyloepiphyseal dysplasia, Stanescu type skos:narrowMatch OMIM:616583 semapv:UnspecifiedMatching +obo:GARD_17813 Autosomal recessive spastic paraplegia type 75 skos:exactMatch Orphanet:459056 semapv:UnspecifiedMatching +obo:GARD_17813 Autosomal recessive spastic paraplegia type 75 skos:narrowMatch OMIM:616680 semapv:UnspecifiedMatching +obo:GARD_17814 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome skos:exactMatch Orphanet:459061 semapv:UnspecifiedMatching +obo:GARD_17814 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome skos:narrowMatch OMIM:616901 semapv:UnspecifiedMatching +obo:GARD_17815 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:exactMatch Orphanet:459070 semapv:UnspecifiedMatching +obo:GARD_17815 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:narrowMatch OMIM:300998 semapv:UnspecifiedMatching +obo:GARD_17816 Spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch Orphanet:464282 semapv:UnspecifiedMatching +obo:GARD_17816 Spastic paraplegia-severe developmental delay-epilepsy syndrome skos:narrowMatch OMIM:616756 semapv:UnspecifiedMatching +obo:GARD_17817 Short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching +obo:GARD_17817 Short stature-brachydactyly-obesity-global developmental delay syndrome skos:narrowMatch OMIM:617157 semapv:UnspecifiedMatching +obo:GARD_17818 NEK9-related lethal skeletal dysplasia skos:exactMatch Orphanet:464366 semapv:UnspecifiedMatching +obo:GARD_17818 NEK9-related lethal skeletal dysplasia skos:narrowMatch OMIM:617022 semapv:UnspecifiedMatching +obo:GARD_17819 Primary dystonia, DYT27 type skos:exactMatch Orphanet:464440 semapv:UnspecifiedMatching +obo:GARD_17819 Primary dystonia, DYT27 type skos:narrowMatch OMIM:616411 semapv:UnspecifiedMatching +obo:GARD_17820 Fever-associated acute infantile liver failure syndrome skos:exactMatch Orphanet:464724 semapv:UnspecifiedMatching +obo:GARD_17820 Fever-associated acute infantile liver failure syndrome skos:narrowMatch OMIM:616483 semapv:UnspecifiedMatching +obo:GARD_17820 Fever-associated acute infantile liver failure syndrome skos:narrowMatch OMIM:618641 semapv:UnspecifiedMatching +obo:GARD_17821 Basel-Vanagaite-Smirin-Yosef syndrome skos:exactMatch Orphanet:464738 semapv:UnspecifiedMatching +obo:GARD_17821 Basel-Vanagaite-Smirin-Yosef syndrome skos:narrowMatch OMIM:616449 semapv:UnspecifiedMatching +obo:GARD_17822 Familial cavitary optic disc anomaly skos:exactMatch Orphanet:464760 semapv:UnspecifiedMatching +obo:GARD_17822 Familial cavitary optic disc anomaly skos:narrowMatch OMIM:611543 semapv:UnspecifiedMatching +obo:GARD_17823 Fetal encasement syndrome skos:exactMatch Orphanet:465824 semapv:UnspecifiedMatching +obo:GARD_17823 Fetal encasement syndrome skos:narrowMatch OMIM:613630 semapv:UnspecifiedMatching +obo:GARD_17824 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch Orphanet:466688 semapv:UnspecifiedMatching +obo:GARD_17824 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:narrowMatch OMIM:616819 semapv:UnspecifiedMatching +obo:GARD_17825 TMEM199-CDG skos:exactMatch Orphanet:466703 semapv:UnspecifiedMatching +obo:GARD_17825 TMEM199-CDG skos:narrowMatch OMIM:616829 semapv:UnspecifiedMatching +obo:GARD_17826 Martinique crinkled retinal pigment epitheliopathy skos:exactMatch Orphanet:466718 semapv:UnspecifiedMatching +obo:GARD_17826 Martinique crinkled retinal pigment epitheliopathy skos:narrowMatch OMIM:617111 semapv:UnspecifiedMatching +obo:GARD_17827 Autosomal recessive spastic paraplegia type 77 skos:exactMatch Orphanet:466722 semapv:UnspecifiedMatching +obo:GARD_17827 Autosomal recessive spastic paraplegia type 77 skos:narrowMatch OMIM:617046 semapv:UnspecifiedMatching +obo:GARD_17828 Familial patent arterial duct skos:exactMatch Orphanet:466729 semapv:UnspecifiedMatching +obo:GARD_17828 Familial patent arterial duct skos:narrowMatch OMIM:607411 semapv:UnspecifiedMatching +obo:GARD_17828 Familial patent arterial duct skos:narrowMatch OMIM:617035 semapv:UnspecifiedMatching +obo:GARD_17828 Familial patent arterial duct skos:narrowMatch OMIM:617039 semapv:UnspecifiedMatching +obo:GARD_17829 Autosomal dominant Charcot-Marie-Tooth disease type 2Z skos:exactMatch Orphanet:466768 semapv:UnspecifiedMatching +obo:GARD_17829 Autosomal dominant Charcot-Marie-Tooth disease type 2Z skos:narrowMatch OMIM:616688 semapv:UnspecifiedMatching +obo:GARD_17830 Autosomal recessive Charcot-Marie-Tooth disease type 2X skos:exactMatch Orphanet:466775 semapv:UnspecifiedMatching +obo:GARD_17830 Autosomal recessive Charcot-Marie-Tooth disease type 2X skos:narrowMatch OMIM:616668 semapv:UnspecifiedMatching +obo:GARD_17831 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect skos:exactMatch Orphanet:466784 semapv:UnspecifiedMatching +obo:GARD_17831 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect skos:narrowMatch OMIM:616794 semapv:UnspecifiedMatching +obo:GARD_17832 Macrocephaly-intellectual disability-left ventricular non compaction syndrome skos:exactMatch Orphanet:466791 semapv:UnspecifiedMatching +obo:GARD_17832 Macrocephaly-intellectual disability-left ventricular non compaction syndrome skos:narrowMatch OMIM:300967 semapv:UnspecifiedMatching +obo:GARD_17833 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch Orphanet:466794 semapv:UnspecifiedMatching +obo:GARD_17833 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:narrowMatch OMIM:616719 semapv:UnspecifiedMatching +obo:GARD_17834 LIMS2-related limb-girdle muscular dystrophy skos:exactMatch Orphanet:466801 semapv:UnspecifiedMatching +obo:GARD_17834 LIMS2-related limb-girdle muscular dystrophy skos:narrowMatch OMIM:616827 semapv:UnspecifiedMatching +obo:GARD_17835 Autosomal dominant thrombocytopenia with platelet secretion defect skos:exactMatch Orphanet:466806 semapv:UnspecifiedMatching +obo:GARD_17835 Autosomal dominant thrombocytopenia with platelet secretion defect skos:narrowMatch OMIM:616913 semapv:UnspecifiedMatching +obo:GARD_17835 Autosomal dominant thrombocytopenia with platelet secretion defect skos:narrowMatch OMIM:619130 semapv:UnspecifiedMatching +obo:GARD_17836 Seizures-scoliosis-macrocephaly syndrome skos:exactMatch Orphanet:466926 semapv:UnspecifiedMatching +obo:GARD_17836 Seizures-scoliosis-macrocephaly syndrome skos:narrowMatch OMIM:616682 semapv:UnspecifiedMatching +obo:GARD_17837 VPS11-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:466934 semapv:UnspecifiedMatching +obo:GARD_17837 VPS11-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:616683 semapv:UnspecifiedMatching +obo:GARD_17838 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching +obo:GARD_17838 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome skos:narrowMatch OMIM:616708 semapv:UnspecifiedMatching +obo:GARD_17839 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching +obo:GARD_17839 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation skos:narrowMatch OMIM:616708 semapv:UnspecifiedMatching +obo:GARD_17840 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch Orphanet:467176 semapv:UnspecifiedMatching +obo:GARD_17840 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:narrowMatch OMIM:616816 semapv:UnspecifiedMatching +obo:GARD_17841 Microcephalic cortical malformations-short stature due to RTTN deficiency skos:exactMatch Orphanet:468631 semapv:UnspecifiedMatching +obo:GARD_17841 Microcephalic cortical malformations-short stature due to RTTN deficiency skos:narrowMatch OMIM:614833 semapv:UnspecifiedMatching +obo:GARD_17842 Autosomal recessive spastic paraplegia type 74 skos:exactMatch Orphanet:468661 semapv:UnspecifiedMatching +obo:GARD_17842 Autosomal recessive spastic paraplegia type 74 skos:narrowMatch OMIM:616451 semapv:UnspecifiedMatching +obo:GARD_17843 Isolated generalized anhidrosis with normal sweat glands skos:exactMatch Orphanet:468666 semapv:UnspecifiedMatching +obo:GARD_17843 Isolated generalized anhidrosis with normal sweat glands skos:narrowMatch OMIM:106190 semapv:UnspecifiedMatching +obo:GARD_17844 Colobomatous macrophthalmia-microcornea syndrome skos:exactMatch Orphanet:468672 semapv:UnspecifiedMatching +obo:GARD_17844 Colobomatous macrophthalmia-microcornea syndrome skos:narrowMatch OMIM:602499 semapv:UnspecifiedMatching +obo:GARD_17845 CCDC115-CDG skos:exactMatch Orphanet:468684 semapv:UnspecifiedMatching +obo:GARD_17845 CCDC115-CDG skos:narrowMatch OMIM:616828 semapv:UnspecifiedMatching +obo:GARD_17846 SLC39A8-CDG skos:exactMatch Orphanet:468699 semapv:UnspecifiedMatching +obo:GARD_17846 SLC39A8-CDG skos:narrowMatch OMIM:616721 semapv:UnspecifiedMatching +obo:GARD_17847 BVES-related limb-girdle muscular dystrophy skos:exactMatch Orphanet:476084 semapv:UnspecifiedMatching +obo:GARD_17847 BVES-related limb-girdle muscular dystrophy skos:narrowMatch OMIM:616812 semapv:UnspecifiedMatching +obo:GARD_17848 Hereditary pediatric Behçet-like disease skos:exactMatch Orphanet:476102 semapv:UnspecifiedMatching +obo:GARD_17848 Hereditary pediatric Behçet-like disease skos:narrowMatch OMIM:616744 semapv:UnspecifiedMatching +obo:GARD_17849 Combined immunodeficiency due to TFRC deficiency skos:exactMatch Orphanet:476113 semapv:UnspecifiedMatching +obo:GARD_17849 Combined immunodeficiency due to TFRC deficiency skos:narrowMatch OMIM:616740 semapv:UnspecifiedMatching +obo:GARD_17850 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch Orphanet:476126 semapv:UnspecifiedMatching +obo:GARD_17850 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:narrowMatch OMIM:617061 semapv:UnspecifiedMatching +obo:GARD_17851 PMP2-related Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:476394 semapv:UnspecifiedMatching +obo:GARD_17851 PMP2-related Charcot-Marie-Tooth disease type 1 skos:narrowMatch OMIM:618279 semapv:UnspecifiedMatching +obo:GARD_17852 IL21-related infantile inflammatory bowel disease skos:exactMatch Orphanet:477661 semapv:UnspecifiedMatching +obo:GARD_17852 IL21-related infantile inflammatory bowel disease skos:narrowMatch OMIM:615767 semapv:UnspecifiedMatching +obo:GARD_17853 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome skos:exactMatch Orphanet:477673 semapv:UnspecifiedMatching +obo:GARD_17853 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome skos:narrowMatch OMIM:616281 semapv:UnspecifiedMatching +obo:GARD_17854 Combined oxidative phosphorylation defect type 26 skos:exactMatch Orphanet:477684 semapv:UnspecifiedMatching +obo:GARD_17854 Combined oxidative phosphorylation defect type 26 skos:narrowMatch OMIM:616539 semapv:UnspecifiedMatching +obo:GARD_17855 Pontine autosomal dominant microangiopathy with leukoencephalopathy skos:exactMatch Orphanet:477749 semapv:UnspecifiedMatching +obo:GARD_17855 Pontine autosomal dominant microangiopathy with leukoencephalopathy skos:narrowMatch OMIM:618564 semapv:UnspecifiedMatching +obo:GARD_17856 Combined oxidative phosphorylation defect type 27 skos:exactMatch Orphanet:477774 semapv:UnspecifiedMatching +obo:GARD_17856 Combined oxidative phosphorylation defect type 27 skos:narrowMatch OMIM:616672 semapv:UnspecifiedMatching +obo:GARD_17857 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch Orphanet:477787 semapv:UnspecifiedMatching +obo:GARD_17857 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:narrowMatch OMIM:618372 semapv:UnspecifiedMatching +obo:GARD_17858 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch Orphanet:477814 semapv:UnspecifiedMatching +obo:GARD_17858 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:narrowMatch OMIM:616632 semapv:UnspecifiedMatching +obo:GARD_17859 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch Orphanet:477817 semapv:UnspecifiedMatching +obo:GARD_17859 PMP22-RAI1 contiguous gene duplication syndrome skos:narrowMatch OMIM:616652 semapv:UnspecifiedMatching +obo:GARD_17860 Kosaki overgrowth syndrome skos:exactMatch Orphanet:477831 semapv:UnspecifiedMatching +obo:GARD_17860 Kosaki overgrowth syndrome skos:narrowMatch OMIM:616592 semapv:UnspecifiedMatching +obo:GARD_17861 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch Orphanet:477857 semapv:UnspecifiedMatching +obo:GARD_17861 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:narrowMatch OMIM:616622 semapv:UnspecifiedMatching +obo:GARD_17862 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:477993 semapv:UnspecifiedMatching +obo:GARD_17862 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:narrowMatch OMIM:616728 semapv:UnspecifiedMatching +obo:GARD_17863 Combined oxidative phosphorylation defect type 29 skos:exactMatch Orphanet:478029 semapv:UnspecifiedMatching +obo:GARD_17863 Combined oxidative phosphorylation defect type 29 skos:narrowMatch OMIM:616811 semapv:UnspecifiedMatching +obo:GARD_17864 Combined oxidative phosphorylation defect type 30 skos:exactMatch Orphanet:478042 semapv:UnspecifiedMatching +obo:GARD_17864 Combined oxidative phosphorylation defect type 30 skos:narrowMatch OMIM:616974 semapv:UnspecifiedMatching +obo:GARD_17865 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch Orphanet:478049 semapv:UnspecifiedMatching +obo:GARD_17865 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:narrowMatch OMIM:617228 semapv:UnspecifiedMatching +obo:GARD_17866 Hereditary sensory and autonomic neuropathy type 8 skos:exactMatch Orphanet:478664 semapv:UnspecifiedMatching +obo:GARD_17866 Hereditary sensory and autonomic neuropathy type 8 skos:narrowMatch OMIM:616488 semapv:UnspecifiedMatching +obo:GARD_17867 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch Orphanet:480476 semapv:UnspecifiedMatching +obo:GARD_17867 Progressive familial intrahepatic cholestasis type 5 skos:narrowMatch OMIM:617049 semapv:UnspecifiedMatching +obo:GARD_17868 MSH3-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:480536 semapv:UnspecifiedMatching +obo:GARD_17868 MSH3-related attenuated familial adenomatous polyposis skos:narrowMatch OMIM:617100 semapv:UnspecifiedMatching +obo:GARD_17869 POGLUT1-related limb-girdle muscular dystrophy R21 skos:exactMatch Orphanet:480682 semapv:UnspecifiedMatching +obo:GARD_17869 POGLUT1-related limb-girdle muscular dystrophy R21 skos:narrowMatch OMIM:617232 semapv:UnspecifiedMatching +obo:GARD_17870 Hereditary thrombocytopenia with early-onset myelofibrosis skos:exactMatch Orphanet:480851 semapv:UnspecifiedMatching +obo:GARD_17870 Hereditary thrombocytopenia with early-onset myelofibrosis skos:narrowMatch OMIM:616937 semapv:UnspecifiedMatching +obo:GARD_17871 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch Orphanet:480898 semapv:UnspecifiedMatching +obo:GARD_17871 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:narrowMatch OMIM:616875 semapv:UnspecifiedMatching +obo:GARD_17872 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:exactMatch Orphanet:480907 semapv:UnspecifiedMatching +obo:GARD_17872 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:narrowMatch OMIM:300966 semapv:UnspecifiedMatching +obo:GARD_17873 PYCR2-related microcephaly-progressive leukoencephalopathy skos:exactMatch Orphanet:481152 semapv:UnspecifiedMatching +obo:GARD_17873 PYCR2-related microcephaly-progressive leukoencephalopathy skos:narrowMatch OMIM:616420 semapv:UnspecifiedMatching +obo:GARD_17874 Familial Chilblain lupus skos:exactMatch Orphanet:481662 semapv:UnspecifiedMatching +obo:GARD_17874 Familial Chilblain lupus skos:narrowMatch OMIM:610448 semapv:UnspecifiedMatching +obo:GARD_17874 Familial Chilblain lupus skos:narrowMatch OMIM:614415 semapv:UnspecifiedMatching +obo:GARD_17875 USP18 deficiency skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching +obo:GARD_17875 USP18 deficiency skos:narrowMatch OMIM:617397 semapv:UnspecifiedMatching +obo:GARD_17876 Familial schizencephaly skos:exactMatch Orphanet:481986 semapv:UnspecifiedMatching +obo:GARD_17876 Familial schizencephaly skos:narrowMatch OMIM:269160 semapv:UnspecifiedMatching +obo:GARD_17877 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch Orphanet:482077 semapv:UnspecifiedMatching +obo:GARD_17877 HTRA1-related autosomal dominant cerebral small vessel disease skos:narrowMatch OMIM:616779 semapv:UnspecifiedMatching +obo:GARD_17878 Adenylosuccinate synthetase-like 1-related distal myopathy skos:exactMatch Orphanet:482601 semapv:UnspecifiedMatching +obo:GARD_17878 Adenylosuccinate synthetase-like 1-related distal myopathy skos:narrowMatch OMIM:617030 semapv:UnspecifiedMatching +obo:GARD_17879 Acquired schizencephaly skos:exactMatch Orphanet:485275 semapv:UnspecifiedMatching +obo:GARD_17879 Acquired schizencephaly skos:narrowMatch OMIM:269160 semapv:UnspecifiedMatching +obo:GARD_17880 CLCN4-related X-linked intellectual disability syndrome skos:exactMatch Orphanet:485350 semapv:UnspecifiedMatching +obo:GARD_17880 CLCN4-related X-linked intellectual disability syndrome skos:narrowMatch OMIM:300114 semapv:UnspecifiedMatching +obo:GARD_17881 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:485421 semapv:UnspecifiedMatching +obo:GARD_17881 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect skos:narrowMatch OMIM:617086 semapv:UnspecifiedMatching +obo:GARD_17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching +obo:GARD_17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:narrowMatch OMIM:616866 semapv:UnspecifiedMatching +obo:GARD_17882 Prenatal-onset spinal muscular atrophy with congenital bone fractures skos:narrowMatch OMIM:616867 semapv:UnspecifiedMatching +obo:GARD_17883 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch Orphanet:486815 semapv:UnspecifiedMatching +obo:GARD_17883 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:narrowMatch OMIM:617066 semapv:UnspecifiedMatching +obo:GARD_17884 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch Orphanet:487796 semapv:UnspecifiedMatching +obo:GARD_17884 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:narrowMatch OMIM:616737 semapv:UnspecifiedMatching +obo:GARD_17885 Pierpont syndrome skos:exactMatch Orphanet:487825 semapv:UnspecifiedMatching +obo:GARD_17885 Pierpont syndrome skos:narrowMatch OMIM:602342 semapv:UnspecifiedMatching +obo:GARD_17886 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch Orphanet:488168 semapv:UnspecifiedMatching +obo:GARD_17886 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:narrowMatch OMIM:616834 semapv:UnspecifiedMatching +obo:GARD_17887 Female infertility due to oocyte meiotic arrest skos:exactMatch Orphanet:488191 semapv:UnspecifiedMatching +obo:GARD_17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:616780 semapv:UnspecifiedMatching +obo:GARD_17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:617743 semapv:UnspecifiedMatching +obo:GARD_17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619009 semapv:UnspecifiedMatching +obo:GARD_17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619011 semapv:UnspecifiedMatching +obo:GARD_17887 Female infertility due to oocyte meiotic arrest skos:narrowMatch OMIM:619176 semapv:UnspecifiedMatching +obo:GARD_17888 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch Orphanet:488197 semapv:UnspecifiedMatching +obo:GARD_17888 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:narrowMatch OMIM:616722 semapv:UnspecifiedMatching +obo:GARD_17889 Split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch Orphanet:488232 semapv:UnspecifiedMatching +obo:GARD_17889 Split-foot malformation-mesoaxial polydactyly syndrome skos:narrowMatch OMIM:616890 semapv:UnspecifiedMatching +obo:GARD_17890 14q32 duplication syndrome skos:exactMatch Orphanet:488280 semapv:UnspecifiedMatching +obo:GARD_17890 14q32 duplication syndrome skos:narrowMatch OMIM:616604 semapv:UnspecifiedMatching +obo:GARD_17891 Autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch Orphanet:488333 semapv:UnspecifiedMatching +obo:GARD_17891 Autosomal dominant Charcot-Marie-Tooth disease type 2W skos:narrowMatch OMIM:616625 semapv:UnspecifiedMatching +obo:GARD_17892 Autosomal recessive spastic paraplegia type 76 skos:exactMatch Orphanet:488594 semapv:UnspecifiedMatching +obo:GARD_17892 Autosomal recessive spastic paraplegia type 76 skos:narrowMatch OMIM:616907 semapv:UnspecifiedMatching +obo:GARD_17893 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:exactMatch Orphanet:488613 semapv:UnspecifiedMatching +obo:GARD_17893 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:narrowMatch OMIM:616973 semapv:UnspecifiedMatching +obo:GARD_17894 Transketolase deficiency skos:exactMatch Orphanet:488618 semapv:UnspecifiedMatching +obo:GARD_17894 Transketolase deficiency skos:narrowMatch OMIM:617044 semapv:UnspecifiedMatching +obo:GARD_17895 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch Orphanet:488627 semapv:UnspecifiedMatching +obo:GARD_17895 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:narrowMatch OMIM:617051 semapv:UnspecifiedMatching +obo:GARD_17896 TBCK-related intellectual disability syndrome skos:exactMatch Orphanet:488632 semapv:UnspecifiedMatching +obo:GARD_17896 TBCK-related intellectual disability syndrome skos:narrowMatch OMIM:616900 semapv:UnspecifiedMatching +obo:GARD_17897 Early-onset epilepsy-intellectual disability-brain anomalies syndrome skos:exactMatch Orphanet:488635 semapv:UnspecifiedMatching +obo:GARD_17897 Early-onset epilepsy-intellectual disability-brain anomalies syndrome skos:narrowMatch OMIM:616917 semapv:UnspecifiedMatching +obo:GARD_17898 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch Orphanet:488642 semapv:UnspecifiedMatching +obo:GARD_17898 TELO2-related intellectual disability-neurodevelopmental disorder skos:narrowMatch OMIM:616954 semapv:UnspecifiedMatching +obo:GARD_17899 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch Orphanet:488647 semapv:UnspecifiedMatching +obo:GARD_17899 DDX41-related hematologic malignancy predisposition syndrome skos:narrowMatch OMIM:616871 semapv:UnspecifiedMatching +obo:GARD_17900 Distal myopathy, Tateyama type skos:exactMatch Orphanet:488650 semapv:UnspecifiedMatching +obo:GARD_17900 Distal myopathy, Tateyama type skos:narrowMatch OMIM:614321 semapv:UnspecifiedMatching +obo:GARD_17901 Vibratory angioedema skos:exactMatch Orphanet:493348 semapv:UnspecifiedMatching +obo:GARD_17901 Vibratory angioedema skos:narrowMatch OMIM:125630 semapv:UnspecifiedMatching +obo:GARD_17902 RERE-related neurodevelopmental syndrome skos:exactMatch Orphanet:494344 semapv:UnspecifiedMatching +obo:GARD_17902 RERE-related neurodevelopmental syndrome skos:narrowMatch OMIM:616975 semapv:UnspecifiedMatching +obo:GARD_17903 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:494439 semapv:UnspecifiedMatching +obo:GARD_17903 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:narrowMatch OMIM:617763 semapv:UnspecifiedMatching +obo:GARD_17904 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch Orphanet:494444 semapv:UnspecifiedMatching +obo:GARD_17904 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:narrowMatch OMIM:124900 semapv:UnspecifiedMatching +obo:GARD_17905 Infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch Orphanet:494526 semapv:UnspecifiedMatching +obo:GARD_17905 Infantile-onset generalized dyskinesia with orofacial involvement skos:narrowMatch OMIM:616921 semapv:UnspecifiedMatching +obo:GARD_17906 Childhood-onset benign chorea with striatal involvement skos:exactMatch Orphanet:494541 semapv:UnspecifiedMatching +obo:GARD_17906 Childhood-onset benign chorea with striatal involvement skos:narrowMatch OMIM:616922 semapv:UnspecifiedMatching +obo:GARD_17907 Squamous cell carcinoma of the hypopharynx skos:exactMatch Orphanet:494547 semapv:UnspecifiedMatching +obo:GARD_17907 Squamous cell carcinoma of the hypopharynx skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17908 Squamous cell carcinoma of the larynx skos:exactMatch Orphanet:494550 semapv:UnspecifiedMatching +obo:GARD_17908 Squamous cell carcinoma of the larynx skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17909 Charcot-Marie-Tooth disease type 2T skos:exactMatch Orphanet:495274 semapv:UnspecifiedMatching +obo:GARD_17909 Charcot-Marie-Tooth disease type 2T skos:narrowMatch OMIM:617017 semapv:UnspecifiedMatching +obo:GARD_17910 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:495844 semapv:UnspecifiedMatching +obo:GARD_17910 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:616881 semapv:UnspecifiedMatching +obo:GARD_17911 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch Orphanet:496641 semapv:UnspecifiedMatching +obo:GARD_17911 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:narrowMatch OMIM:617193 semapv:UnspecifiedMatching +obo:GARD_17912 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:496686 semapv:UnspecifiedMatching +obo:GARD_17912 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:narrowMatch OMIM:617114 semapv:UnspecifiedMatching +obo:GARD_17913 EVEN-plus syndrome skos:exactMatch Orphanet:496751 semapv:UnspecifiedMatching +obo:GARD_17913 EVEN-plus syndrome skos:narrowMatch OMIM:616854 semapv:UnspecifiedMatching +obo:GARD_17914 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch Orphanet:496756 semapv:UnspecifiedMatching +obo:GARD_17914 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:narrowMatch OMIM:617207 semapv:UnspecifiedMatching +obo:GARD_17915 Ocular anomalies-axonal neuropathy-developmental delay syndrome skos:exactMatch Orphanet:496790 semapv:UnspecifiedMatching +obo:GARD_17915 Ocular anomalies-axonal neuropathy-developmental delay syndrome skos:narrowMatch OMIM:617183 semapv:UnspecifiedMatching +obo:GARD_17916 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:exactMatch Orphanet:497757 semapv:UnspecifiedMatching +obo:GARD_17916 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:narrowMatch OMIM:617017 semapv:UnspecifiedMatching +obo:GARD_17917 Spinocerebellar ataxia type 43 skos:exactMatch Orphanet:497764 semapv:UnspecifiedMatching +obo:GARD_17917 Spinocerebellar ataxia type 43 skos:narrowMatch OMIM:617017 semapv:UnspecifiedMatching +obo:GARD_17918 Childhood-onset basal ganglia degeneration syndrome skos:exactMatch Orphanet:497906 semapv:UnspecifiedMatching +obo:GARD_17918 Childhood-onset basal ganglia degeneration syndrome skos:narrowMatch OMIM:617054 semapv:UnspecifiedMatching +obo:GARD_17919 Short rib-polydactyly syndrome type 5 skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching +obo:GARD_17919 Short rib-polydactyly syndrome type 5 skos:narrowMatch OMIM:614091 semapv:UnspecifiedMatching +obo:GARD_17920 16p13.2 microdeletion syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching +obo:GARD_17920 16p13.2 microdeletion syndrome skos:narrowMatch OMIM:616863 semapv:UnspecifiedMatching +obo:GARD_17921 Tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch Orphanet:500095 semapv:UnspecifiedMatching +obo:GARD_17921 Tall stature-intellectual disability-renal anomalies syndrome skos:narrowMatch OMIM:617107 semapv:UnspecifiedMatching +obo:GARD_17922 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch Orphanet:500135 semapv:UnspecifiedMatching +obo:GARD_17922 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:narrowMatch OMIM:236500 semapv:UnspecifiedMatching +obo:GARD_17923 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch Orphanet:500144 semapv:UnspecifiedMatching +obo:GARD_17923 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:narrowMatch OMIM:617669 semapv:UnspecifiedMatching +obo:GARD_17924 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom skos:exactMatch Orphanet:500159 semapv:UnspecifiedMatching +obo:GARD_17924 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom skos:narrowMatch OMIM:617751 semapv:UnspecifiedMatching +obo:GARD_17925 SIN3A-related intellectual disability syndrome due to a point mutation skos:exactMatch Orphanet:500166 semapv:UnspecifiedMatching +obo:GARD_17925 SIN3A-related intellectual disability syndrome due to a point mutation skos:narrowMatch OMIM:613406 semapv:UnspecifiedMatching +obo:GARD_17926 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch Orphanet:500188 semapv:UnspecifiedMatching +obo:GARD_17926 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:narrowMatch OMIM:301018 semapv:UnspecifiedMatching +obo:GARD_17927 Squamous cell carcinoma of the nasal cavity and paranasal sinuses skos:exactMatch Orphanet:500464 semapv:UnspecifiedMatching +obo:GARD_17927 Squamous cell carcinoma of the nasal cavity and paranasal sinuses skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17928 Squamous cell carcinoma of the oropharynx skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching +obo:GARD_17928 Squamous cell carcinoma of the oropharynx skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17929 Squamous cell carcinoma of salivary glands skos:exactMatch Orphanet:500481 semapv:UnspecifiedMatching +obo:GARD_17929 Squamous cell carcinoma of salivary glands skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17930 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract skos:exactMatch Orphanet:500545 semapv:UnspecifiedMatching +obo:GARD_17930 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract skos:narrowMatch OMIM:617393 semapv:UnspecifiedMatching +obo:GARD_17931 Osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching +obo:GARD_17931 Osteosclerotic metaphyseal dysplasia skos:narrowMatch OMIM:615198 semapv:UnspecifiedMatching +obo:GARD_17932 Squamous cell carcinoma of the oral cavity skos:exactMatch Orphanet:502363 semapv:UnspecifiedMatching +obo:GARD_17932 Squamous cell carcinoma of the oral cavity skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17933 Squamous cell carcinoma of the lip skos:exactMatch Orphanet:502366 semapv:UnspecifiedMatching +obo:GARD_17933 Squamous cell carcinoma of the lip skos:narrowMatch OMIM:275355 semapv:UnspecifiedMatching +obo:GARD_17934 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch Orphanet:502423 semapv:UnspecifiedMatching +obo:GARD_17934 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:narrowMatch OMIM:617675 semapv:UnspecifiedMatching +obo:GARD_17935 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome skos:exactMatch Orphanet:502434 semapv:UnspecifiedMatching +obo:GARD_17935 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome skos:narrowMatch OMIM:617635 semapv:UnspecifiedMatching +obo:GARD_17936 Alkaline ceramidase 3 deficiency skos:exactMatch Orphanet:502444 semapv:UnspecifiedMatching +obo:GARD_17936 Alkaline ceramidase 3 deficiency skos:narrowMatch OMIM:617762 semapv:UnspecifiedMatching +obo:GARD_17937 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch Orphanet:504476 semapv:UnspecifiedMatching +obo:GARD_17937 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:narrowMatch OMIM:614575 semapv:UnspecifiedMatching +obo:GARD_17938 Severe combined immunodeficiency due to LAT deficiency skos:exactMatch Orphanet:504523 semapv:UnspecifiedMatching +obo:GARD_17938 Severe combined immunodeficiency due to LAT deficiency skos:narrowMatch OMIM:617514 semapv:UnspecifiedMatching +obo:GARD_17939 Combined immunodeficiency due to Moesin deficiency skos:exactMatch Orphanet:504530 semapv:UnspecifiedMatching +obo:GARD_17939 Combined immunodeficiency due to Moesin deficiency skos:narrowMatch OMIM:300988 semapv:UnspecifiedMatching +obo:GARD_17940 3-methylglutaconic aciduria type 9 skos:exactMatch Orphanet:505216 semapv:UnspecifiedMatching +obo:GARD_17940 3-methylglutaconic aciduria type 9 skos:narrowMatch OMIM:617698 semapv:UnspecifiedMatching +obo:GARD_17941 Combined immunodeficiency due to GINS1 deficiency skos:exactMatch Orphanet:505227 semapv:UnspecifiedMatching +obo:GARD_17941 Combined immunodeficiency due to GINS1 deficiency skos:narrowMatch OMIM:617827 semapv:UnspecifiedMatching +obo:GARD_17942 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome skos:exactMatch Orphanet:505237 semapv:UnspecifiedMatching +obo:GARD_17942 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome skos:narrowMatch OMIM:617452 semapv:UnspecifiedMatching +obo:GARD_17943 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching +obo:GARD_17943 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:narrowMatch OMIM:617595 semapv:UnspecifiedMatching +obo:GARD_17944 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching +obo:GARD_17944 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:narrowMatch OMIM:617303 semapv:UnspecifiedMatching +obo:GARD_17945 Stromme syndrome skos:exactMatch Orphanet:506307 semapv:UnspecifiedMatching +obo:GARD_17945 Stromme syndrome skos:narrowMatch OMIM:243605 semapv:UnspecifiedMatching +obo:GARD_17946 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction skos:exactMatch Orphanet:506353 semapv:UnspecifiedMatching +obo:GARD_17946 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction skos:narrowMatch OMIM:618768 semapv:UnspecifiedMatching +obo:GARD_17947 Gabriele-de Vries syndrome skos:exactMatch Orphanet:506358 semapv:UnspecifiedMatching +obo:GARD_17947 Gabriele-de Vries syndrome skos:narrowMatch OMIM:617557 semapv:UnspecifiedMatching +obo:GARD_17948 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:exactMatch Orphanet:508498 semapv:UnspecifiedMatching +obo:GARD_17948 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:narrowMatch OMIM:615583 semapv:UnspecifiedMatching +obo:GARD_17949 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:exactMatch Orphanet:508512 semapv:UnspecifiedMatching +obo:GARD_17949 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:narrowMatch OMIM:618097 semapv:UnspecifiedMatching +obo:GARD_17950 Hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch Orphanet:508523 semapv:UnspecifiedMatching +obo:GARD_17950 Hyperphenylalaninemia due to DNAJC12 deficiency skos:narrowMatch OMIM:617384 semapv:UnspecifiedMatching +obo:GARD_17951 Intermediate epidermolysis bullosa simplex with cardiomyopathy skos:exactMatch Orphanet:508529 semapv:UnspecifiedMatching +obo:GARD_17951 Intermediate epidermolysis bullosa simplex with cardiomyopathy skos:narrowMatch OMIM:617294 semapv:UnspecifiedMatching +obo:GARD_17952 Autosomal recessive spastic paraplegia type 78 skos:exactMatch Orphanet:513436 semapv:UnspecifiedMatching +obo:GARD_17952 Autosomal recessive spastic paraplegia type 78 skos:narrowMatch OMIM:617225 semapv:UnspecifiedMatching +obo:GARD_17953 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome skos:exactMatch Orphanet:513456 semapv:UnspecifiedMatching +obo:GARD_17953 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome skos:narrowMatch OMIM:617616 semapv:UnspecifiedMatching +obo:GARD_17954 Autosomal recessive anterior segment dysgenesis skos:exactMatch Orphanet:519388 semapv:UnspecifiedMatching +obo:GARD_17954 Autosomal recessive anterior segment dysgenesis skos:narrowMatch OMIM:617319 semapv:UnspecifiedMatching +obo:GARD_17955 Xq25 microduplication syndrome skos:exactMatch Orphanet:521258 semapv:UnspecifiedMatching +obo:GARD_17955 Xq25 microduplication syndrome skos:narrowMatch OMIM:300979 semapv:UnspecifiedMatching +obo:GARD_17956 Proximal myopathy with focal depletion of mitochondria skos:exactMatch Orphanet:521305 semapv:UnspecifiedMatching +obo:GARD_17956 Proximal myopathy with focal depletion of mitochondria skos:narrowMatch OMIM:600706 semapv:UnspecifiedMatching +obo:GARD_17957 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome skos:exactMatch Orphanet:521390 semapv:UnspecifiedMatching +obo:GARD_17957 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome skos:narrowMatch OMIM:617296 semapv:UnspecifiedMatching +obo:GARD_17958 Dystonia-parkinsonism-hypermanganesemia syndrome skos:exactMatch Orphanet:521406 semapv:UnspecifiedMatching +obo:GARD_17958 Dystonia-parkinsonism-hypermanganesemia syndrome skos:narrowMatch OMIM:617013 semapv:UnspecifiedMatching +obo:GARD_17959 Autosomal dominant Charcot-Marie-Tooth disease type 2DD skos:exactMatch Orphanet:521414 semapv:UnspecifiedMatching +obo:GARD_17959 Autosomal dominant Charcot-Marie-Tooth disease type 2DD skos:narrowMatch OMIM:618036 semapv:UnspecifiedMatching +obo:GARD_17960 PLAA-associated neurodevelopmental disorder skos:exactMatch Orphanet:521426 semapv:UnspecifiedMatching +obo:GARD_17960 PLAA-associated neurodevelopmental disorder skos:narrowMatch OMIM:617527 semapv:UnspecifiedMatching +obo:GARD_17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching +obo:GARD_17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:narrowMatch OMIM:617660 semapv:UnspecifiedMatching +obo:GARD_17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:narrowMatch OMIM:617661 semapv:UnspecifiedMatching +obo:GARD_17961 Congenital vertebral-cardiac-renal anomalies syndrome skos:narrowMatch OMIM:618845 semapv:UnspecifiedMatching +obo:GARD_17962 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch Orphanet:522077 semapv:UnspecifiedMatching +obo:GARD_17962 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:narrowMatch OMIM:618218 semapv:UnspecifiedMatching +obo:GARD_17963 Severe myopia-generalized joint laxity-short stature syndrome skos:exactMatch Orphanet:527450 semapv:UnspecifiedMatching +obo:GARD_17963 Severe myopia-generalized joint laxity-short stature syndrome skos:narrowMatch OMIM:617662 semapv:UnspecifiedMatching +obo:GARD_17964 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:527497 semapv:UnspecifiedMatching +obo:GARD_17964 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy skos:narrowMatch OMIM:617560 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:301029 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:309590 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:606053 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:617755 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618009 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618292 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618342 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618430 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618470 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618569 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618653 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618659 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618906 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618914 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618922 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618971 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:618974 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619000 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619005 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619031 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619056 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619072 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619076 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619083 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619091 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619092 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619099 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619125 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619149 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619157 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619239 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619243 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619244 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619264 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619268 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619306 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619314 semapv:UnspecifiedMatching +obo:GARD_17965 Non-specific syndromic intellectual disability skos:narrowMatch OMIM:619320 semapv:UnspecifiedMatching +obo:GARD_17966 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch Orphanet:528091 semapv:UnspecifiedMatching +obo:GARD_17966 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:narrowMatch OMIM:617021 semapv:UnspecifiedMatching +obo:GARD_17967 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome skos:exactMatch Orphanet:528105 semapv:UnspecifiedMatching +obo:GARD_17967 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome skos:narrowMatch OMIM:617671 semapv:UnspecifiedMatching +obo:GARD_17968 Duane retraction syndrome with congenital deafness skos:exactMatch Orphanet:529574 semapv:UnspecifiedMatching +obo:GARD_17968 Duane retraction syndrome with congenital deafness skos:narrowMatch OMIM:617041 semapv:UnspecifiedMatching +obo:GARD_17969 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome skos:exactMatch Orphanet:529665 semapv:UnspecifiedMatching +obo:GARD_17969 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome skos:narrowMatch OMIM:617810 semapv:UnspecifiedMatching +obo:GARD_17970 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome skos:exactMatch Orphanet:529965 semapv:UnspecifiedMatching +obo:GARD_17970 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome skos:narrowMatch OMIM:617682 semapv:UnspecifiedMatching +obo:GARD_17971 Male infertility due to acephalic spermatozoa skos:exactMatch Orphanet:529970 semapv:UnspecifiedMatching +obo:GARD_17971 Male infertility due to acephalic spermatozoa skos:narrowMatch OMIM:617187 semapv:UnspecifiedMatching +obo:GARD_17971 Male infertility due to acephalic spermatozoa skos:narrowMatch OMIM:618112 semapv:UnspecifiedMatching +obo:GARD_17972 Mixed phenotype acute leukemia skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching +obo:GARD_17972 Mixed phenotype acute leukemia skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_17973 Familial GPIHBP1 deficiency skos:exactMatch Orphanet:535458 semapv:UnspecifiedMatching +obo:GARD_17973 Familial GPIHBP1 deficiency skos:narrowMatch OMIM:615947 semapv:UnspecifiedMatching +obo:GARD_17974 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching +obo:GARD_17974 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:615349 semapv:UnspecifiedMatching +obo:GARD_17975 Classical-like Ehlers-Danlos syndrome type 2 skos:exactMatch Orphanet:536532 semapv:UnspecifiedMatching +obo:GARD_17975 Classical-like Ehlers-Danlos syndrome type 2 skos:narrowMatch OMIM:618000 semapv:UnspecifiedMatching +obo:GARD_17976 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy skos:exactMatch Orphanet:538096 semapv:UnspecifiedMatching +obo:GARD_17976 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy skos:narrowMatch OMIM:604431 semapv:UnspecifiedMatching +obo:GARD_17977 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch Orphanet:538574 semapv:UnspecifiedMatching +obo:GARD_17977 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:narrowMatch OMIM:148360 semapv:UnspecifiedMatching +obo:GARD_17978 Combined immunodeficiency due to CD70 deficiency skos:exactMatch Orphanet:538958 semapv:UnspecifiedMatching +obo:GARD_17978 Combined immunodeficiency due to CD70 deficiency skos:narrowMatch OMIM:618261 semapv:UnspecifiedMatching +obo:GARD_17979 Combined immunodeficiency due to ITK deficiency skos:exactMatch Orphanet:538963 semapv:UnspecifiedMatching +obo:GARD_17979 Combined immunodeficiency due to ITK deficiency skos:narrowMatch OMIM:613011 semapv:UnspecifiedMatching +obo:GARD_17980 Growth delay-intellectual disability-hepatopathy syndrome skos:exactMatch Orphanet:541423 semapv:UnspecifiedMatching +obo:GARD_17980 Growth delay-intellectual disability-hepatopathy syndrome skos:narrowMatch OMIM:617093 semapv:UnspecifiedMatching +obo:GARD_17981 Combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch Orphanet:542301 semapv:UnspecifiedMatching +obo:GARD_17981 Combined immunodeficiency due to CARMIL2 deficiency skos:narrowMatch OMIM:618131 semapv:UnspecifiedMatching +obo:GARD_17982 GNB5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch Orphanet:542306 semapv:UnspecifiedMatching +obo:GARD_17982 GNB5-related intellectual disability-cardiac arrhythmia syndrome skos:narrowMatch OMIM:617173 semapv:UnspecifiedMatching +obo:GARD_17983 Auditory neuropathy-optic atrophy syndrome skos:exactMatch Orphanet:542585 semapv:UnspecifiedMatching +obo:GARD_17983 Auditory neuropathy-optic atrophy syndrome skos:narrowMatch OMIM:617717 semapv:UnspecifiedMatching +obo:GARD_17984 Isolated hyperchlorhidrosis skos:exactMatch Orphanet:542657 semapv:UnspecifiedMatching +obo:GARD_17984 Isolated hyperchlorhidrosis skos:narrowMatch OMIM:143860 semapv:UnspecifiedMatching +obo:GARD_17985 PRUNE1-related neurological syndrome skos:exactMatch Orphanet:544469 semapv:UnspecifiedMatching +obo:GARD_17985 PRUNE1-related neurological syndrome skos:narrowMatch OMIM:617481 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:exactMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612922 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612923 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612924 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612925 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:612926 semapv:UnspecifiedMatching +obo:GARD_17986 Atypical hemolytic uremic syndrome with complement gene abnormality skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +obo:GARD_17987 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome skos:exactMatch Orphanet:544488 semapv:UnspecifiedMatching +obo:GARD_17987 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome skos:narrowMatch OMIM:619075 semapv:UnspecifiedMatching +obo:GARD_17988 RNF13-related severe early-onset epileptic encephalopathy skos:exactMatch Orphanet:544503 semapv:UnspecifiedMatching +obo:GARD_17988 RNF13-related severe early-onset epileptic encephalopathy skos:narrowMatch OMIM:618379 semapv:UnspecifiedMatching +obo:GARD_17989 Congenital myopathy with reduced type 2 muscle fibers skos:exactMatch Orphanet:544602 semapv:UnspecifiedMatching +obo:GARD_17989 Congenital myopathy with reduced type 2 muscle fibers skos:narrowMatch OMIM:618414 semapv:UnspecifiedMatching +obo:GARD_17990 NAD(P)HX dehydratase deficiency skos:exactMatch Orphanet:555402 semapv:UnspecifiedMatching +obo:GARD_17990 NAD(P)HX dehydratase deficiency skos:narrowMatch OMIM:618321 semapv:UnspecifiedMatching +obo:GARD_17991 NAD(P)HX epimerase deficiency skos:exactMatch Orphanet:555407 semapv:UnspecifiedMatching +obo:GARD_17991 NAD(P)HX epimerase deficiency skos:narrowMatch OMIM:617186 semapv:UnspecifiedMatching +obo:GARD_17992 Pancreatic agenesis-holoprosencephaly syndrome skos:exactMatch Orphanet:556955 semapv:UnspecifiedMatching +obo:GARD_17992 Pancreatic agenesis-holoprosencephaly syndrome skos:narrowMatch OMIM:618500 semapv:UnspecifiedMatching +obo:GARD_17993 Oculocerebrodental syndrome skos:exactMatch Orphanet:557003 semapv:UnspecifiedMatching +obo:GARD_17993 Oculocerebrodental syndrome skos:narrowMatch OMIM:618440 semapv:UnspecifiedMatching +obo:GARD_17994 Neonatal epileptic encephalopathy due to glutaminase deficiency skos:exactMatch Orphanet:557064 semapv:UnspecifiedMatching +obo:GARD_17994 Neonatal epileptic encephalopathy due to glutaminase deficiency skos:narrowMatch OMIM:618328 semapv:UnspecifiedMatching +obo:GARD_17995 Heme oxygenase-1 deficiency skos:exactMatch Orphanet:562509 semapv:UnspecifiedMatching +obo:GARD_17995 Heme oxygenase-1 deficiency skos:narrowMatch OMIM:614034 semapv:UnspecifiedMatching +obo:GARD_17996 Autosomal recessive extra-oral halitosis skos:exactMatch Orphanet:562538 semapv:UnspecifiedMatching +obo:GARD_17996 Autosomal recessive extra-oral halitosis skos:narrowMatch OMIM:618148 semapv:UnspecifiedMatching +obo:GARD_17997 Anterior maxillary protrusion-strabismus-intellectual disability syndrome skos:exactMatch Orphanet:562559 semapv:UnspecifiedMatching +obo:GARD_17997 Anterior maxillary protrusion-strabismus-intellectual disability syndrome skos:narrowMatch OMIM:613671 semapv:UnspecifiedMatching +obo:GARD_17998 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:562569 semapv:UnspecifiedMatching +obo:GARD_17998 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome skos:narrowMatch OMIM:618316 semapv:UnspecifiedMatching +obo:GARD_17999 Combined oxidative phosphorylation defect type 39 skos:exactMatch Orphanet:565624 semapv:UnspecifiedMatching +obo:GARD_17999 Combined oxidative phosphorylation defect type 39 skos:narrowMatch OMIM:618397 semapv:UnspecifiedMatching +obo:GARD_180 MYH9-related disease skos:exactMatch Orphanet:182050 semapv:UnspecifiedMatching +obo:GARD_180 MYH9-related disease skos:narrowMatch OMIM:155100 semapv:UnspecifiedMatching +obo:GARD_18000 Infantile inflammatory bowel disease with neurological involvement skos:exactMatch Orphanet:565788 semapv:UnspecifiedMatching +obo:GARD_18000 Infantile inflammatory bowel disease with neurological involvement skos:narrowMatch OMIM:618213 semapv:UnspecifiedMatching +obo:GARD_18001 Craniosynostosis-microretrognathia-severe intellectual disability syndrome skos:exactMatch Orphanet:565858 semapv:UnspecifiedMatching +obo:GARD_18001 Craniosynostosis-microretrognathia-severe intellectual disability syndrome skos:narrowMatch OMIM:618265 semapv:UnspecifiedMatching +obo:GARD_18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching +obo:GARD_18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:narrowMatch OMIM:145650 semapv:UnspecifiedMatching +obo:GARD_18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:narrowMatch OMIM:188570 semapv:UnspecifiedMatching +obo:GARD_18002 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta skos:narrowMatch OMIM:274300 semapv:UnspecifiedMatching +obo:GARD_18003 Idiopathic steroid-resistant nephrotic syndrome skos:exactMatch Orphanet:567548 semapv:UnspecifiedMatching +obo:GARD_18003 Idiopathic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619263 semapv:UnspecifiedMatching +obo:GARD_18004 Multiple mitochondrial dysfunctions syndrome type 6 skos:exactMatch Orphanet:569290 semapv:UnspecifiedMatching +obo:GARD_18004 Multiple mitochondrial dysfunctions syndrome type 6 skos:narrowMatch OMIM:617954 semapv:UnspecifiedMatching +obo:GARD_18005 Galactose mutarotase deficiency skos:exactMatch Orphanet:570422 semapv:UnspecifiedMatching +obo:GARD_18005 Galactose mutarotase deficiency skos:narrowMatch OMIM:618881 semapv:UnspecifiedMatching +obo:GARD_18006 QRSL1-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:570491 semapv:UnspecifiedMatching +obo:GARD_18006 QRSL1-related combined oxidative phosphorylation defect skos:narrowMatch OMIM:618835 semapv:UnspecifiedMatching +obo:GARD_18007 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome skos:exactMatch Orphanet:572013 semapv:UnspecifiedMatching +obo:GARD_18007 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome skos:narrowMatch OMIM:618325 semapv:UnspecifiedMatching +obo:GARD_18008 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching +obo:GARD_18008 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:narrowMatch OMIM:110100 semapv:UnspecifiedMatching +obo:GARD_18009 Brachydactyly type B1 skos:exactMatch Orphanet:572385 semapv:UnspecifiedMatching +obo:GARD_18009 Brachydactyly type B1 skos:narrowMatch OMIM:113000 semapv:UnspecifiedMatching +obo:GARD_18010 RFVT2-related riboflavin transporter deficiency skos:exactMatch Orphanet:572543 semapv:UnspecifiedMatching +obo:GARD_18010 RFVT2-related riboflavin transporter deficiency skos:narrowMatch OMIM:211530 semapv:UnspecifiedMatching +obo:GARD_18011 Microcephaly-micromelia syndrome skos:exactMatch Orphanet:572768 semapv:UnspecifiedMatching +obo:GARD_18011 Microcephaly-micromelia syndrome skos:narrowMatch OMIM:251230 semapv:UnspecifiedMatching +obo:GARD_18012 WARS2-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:572798 semapv:UnspecifiedMatching +obo:GARD_18012 WARS2-related combined oxidative phosphorylation defect skos:narrowMatch OMIM:617710 semapv:UnspecifiedMatching +obo:GARD_18013 SATB2-associated syndrome due to a pathogenic variant skos:exactMatch Orphanet:576283 semapv:UnspecifiedMatching +obo:GARD_18013 SATB2-associated syndrome due to a pathogenic variant skos:narrowMatch OMIM:612313 semapv:UnspecifiedMatching +obo:GARD_18014 NLRC4-related familial cold autoinflammatory syndrome skos:exactMatch Orphanet:576349 semapv:UnspecifiedMatching +obo:GARD_18014 NLRC4-related familial cold autoinflammatory syndrome skos:narrowMatch OMIM:616115 semapv:UnspecifiedMatching +obo:GARD_18015 QRICH1-related intellectual disability-chondrodysplasia syndrome skos:exactMatch Orphanet:580940 semapv:UnspecifiedMatching +obo:GARD_18015 QRICH1-related intellectual disability-chondrodysplasia syndrome skos:narrowMatch OMIM:617982 semapv:UnspecifiedMatching +obo:GARD_18016 Spondylometaphyseal dysplasia-corneal dystrophy syndrome skos:exactMatch Orphanet:589435 semapv:UnspecifiedMatching +obo:GARD_18016 Spondylometaphyseal dysplasia-corneal dystrophy syndrome skos:narrowMatch OMIM:618961 semapv:UnspecifiedMatching +obo:GARD_18017 Oculocutaneous albinism type 8 skos:exactMatch Orphanet:597733 semapv:UnspecifiedMatching +obo:GARD_18017 Oculocutaneous albinism type 8 skos:narrowMatch OMIM:619165 semapv:UnspecifiedMatching +obo:GARD_18018 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome skos:exactMatch Orphanet:597874 semapv:UnspecifiedMatching +obo:GARD_18018 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome skos:narrowMatch OMIM:618367 semapv:UnspecifiedMatching +obo:GARD_18019 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome skos:exactMatch Orphanet:598603 semapv:UnspecifiedMatching +obo:GARD_18019 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome skos:narrowMatch OMIM:618381 semapv:UnspecifiedMatching +obo:GARD_1802 Demodicidosis skos:exactMatch Orphanet:283 semapv:UnspecifiedMatching +obo:GARD_18020 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch Orphanet:603448 semapv:UnspecifiedMatching +obo:GARD_18020 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:narrowMatch OMIM:619273 semapv:UnspecifiedMatching +obo:GARD_18021 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome skos:exactMatch Orphanet:603494 semapv:UnspecifiedMatching +obo:GARD_18021 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome skos:narrowMatch OMIM:617306 semapv:UnspecifiedMatching +obo:GARD_18022 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome skos:exactMatch Orphanet:610569 semapv:UnspecifiedMatching +obo:GARD_18022 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome skos:narrowMatch OMIM:617822 semapv:UnspecifiedMatching +obo:GARD_18023 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome skos:exactMatch Orphanet:610573 semapv:UnspecifiedMatching +obo:GARD_18023 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome skos:narrowMatch OMIM:619173 semapv:UnspecifiedMatching +obo:GARD_18024 Oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch Orphanet:611201 semapv:UnspecifiedMatching +obo:GARD_18024 Oculogastrointestinal-neurodevelopmental syndrome skos:narrowMatch OMIM:619318 semapv:UnspecifiedMatching +obo:GARD_18025 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome skos:exactMatch Orphanet:611207 semapv:UnspecifiedMatching +obo:GARD_18025 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome skos:narrowMatch OMIM:619260 semapv:UnspecifiedMatching +obo:GARD_18026 Aplastic anemia-intellectual disability-dwarfism syndrome skos:exactMatch Orphanet:611216 semapv:UnspecifiedMatching +obo:GARD_18026 Aplastic anemia-intellectual disability-dwarfism syndrome skos:narrowMatch OMIM:619151 semapv:UnspecifiedMatching +obo:GARD_18027 EN1-related dorsoventral syndrome skos:exactMatch Orphanet:611223 semapv:UnspecifiedMatching +obo:GARD_18027 EN1-related dorsoventral syndrome skos:narrowMatch OMIM:619217 semapv:UnspecifiedMatching +obo:GARD_18027 EN1-related dorsoventral syndrome skos:narrowMatch OMIM:619218 semapv:UnspecifiedMatching +obo:GARD_18028 Parkinsonism with polyneuropathy skos:exactMatch Orphanet:611237 semapv:UnspecifiedMatching +obo:GARD_18028 Parkinsonism with polyneuropathy skos:narrowMatch OMIM:619279 semapv:UnspecifiedMatching +obo:GARD_18029 Pontocerebellar hypoplasia type 11 skos:exactMatch Orphanet:611247 semapv:UnspecifiedMatching +obo:GARD_18029 Pontocerebellar hypoplasia type 11 skos:narrowMatch OMIM:617695 semapv:UnspecifiedMatching +obo:GARD_18030 Pontocerebellar hypoplasia type 12 skos:exactMatch Orphanet:611256 semapv:UnspecifiedMatching +obo:GARD_18030 Pontocerebellar hypoplasia type 12 skos:narrowMatch OMIM:618266 semapv:UnspecifiedMatching +obo:GARD_18031 Pontocerebellar hypoplasia type 13 skos:exactMatch Orphanet:613267 semapv:UnspecifiedMatching +obo:GARD_18031 Pontocerebellar hypoplasia type 13 skos:narrowMatch OMIM:618606 semapv:UnspecifiedMatching +obo:GARD_18032 Pontocerebellar hypoplasia type 14 skos:exactMatch Orphanet:613274 semapv:UnspecifiedMatching +obo:GARD_18032 Pontocerebellar hypoplasia type 14 skos:narrowMatch OMIM:619301 semapv:UnspecifiedMatching +obo:GARD_18032 Pontocerebellar hypoplasia type 14 skos:narrowMatch OMIM:619302 semapv:UnspecifiedMatching +obo:GARD_18033 Spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch Orphanet:615938 semapv:UnspecifiedMatching +obo:GARD_18033 Spastic paraparesis-cataracts-speech delay syndrome skos:narrowMatch OMIM:619338 semapv:UnspecifiedMatching +obo:GARD_18034 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome skos:exactMatch Orphanet:615954 semapv:UnspecifiedMatching +obo:GARD_18034 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome skos:narrowMatch OMIM:618810 semapv:UnspecifiedMatching +obo:GARD_18035 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate skos:exactMatch Orphanet:615964 semapv:UnspecifiedMatching +obo:GARD_18035 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate skos:narrowMatch OMIM:618384 semapv:UnspecifiedMatching +obo:GARD_18036 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:exactMatch Orphanet:615983 semapv:UnspecifiedMatching +obo:GARD_18036 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:narrowMatch OMIM:618810 semapv:UnspecifiedMatching +obo:GARD_18037 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:exactMatch Orphanet:615986 semapv:UnspecifiedMatching +obo:GARD_18037 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:narrowMatch OMIM:618810 semapv:UnspecifiedMatching +obo:GARD_18038 Lipodystrophy, familial partial, type 7 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +obo:GARD_18038 Lipodystrophy, familial partial, type 7 skos:exactMatch OMIM:606721 semapv:UnspecifiedMatching +obo:GARD_18039 Ovarian dysgenesis 1 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_18039 Ovarian dysgenesis 1 skos:exactMatch OMIM:233300 semapv:UnspecifiedMatching +obo:GARD_1804 Dent disease type 1 skos:exactMatch Orphanet:93622 semapv:UnspecifiedMatching +obo:GARD_1804 Dent disease type 1 skos:narrowMatch OMIM:300009 semapv:UnspecifiedMatching +obo:GARD_1804 Dent disease type 1 skos:narrowMatch OMIM:300554 semapv:UnspecifiedMatching +obo:GARD_1804 Dent disease type 1 skos:narrowMatch OMIM:308990 semapv:UnspecifiedMatching +obo:GARD_1804 Dent disease type 1 skos:narrowMatch OMIM:310468 semapv:UnspecifiedMatching +obo:GARD_18040 Ovarian dysgenesis 2 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_18040 Ovarian dysgenesis 2 skos:exactMatch OMIM:300510 semapv:UnspecifiedMatching +obo:GARD_18041 Ovarian dysgenesis 3 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_18041 Ovarian dysgenesis 3 skos:exactMatch OMIM:614324 semapv:UnspecifiedMatching +obo:GARD_18042 Ovarian dysgenesis 6 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_18042 Ovarian dysgenesis 6 skos:exactMatch OMIM:618078 semapv:UnspecifiedMatching +obo:GARD_18043 Ovarian dysgenesis 7 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_18043 Ovarian dysgenesis 7 skos:exactMatch OMIM:618117 semapv:UnspecifiedMatching +obo:GARD_18044 Premature ovarian failure 16 skos:broadMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_18044 Premature ovarian failure 16 skos:exactMatch OMIM:618723 semapv:UnspecifiedMatching +obo:GARD_18045 Craniosynostosis 1 skos:broadMatch Orphanet:35093 semapv:UnspecifiedMatching +obo:GARD_18045 Craniosynostosis 1 skos:broadMatch Orphanet:35099 semapv:UnspecifiedMatching +obo:GARD_18045 Craniosynostosis 1 skos:exactMatch OMIM:123100 semapv:UnspecifiedMatching +obo:GARD_18046 Craniosynostosis 5, susceptibility to skos:broadMatch Orphanet:35093 semapv:UnspecifiedMatching +obo:GARD_18046 Craniosynostosis 5, susceptibility to skos:exactMatch OMIM:615529 semapv:UnspecifiedMatching +obo:GARD_18047 Craniosynostosis 3 skos:broadMatch Orphanet:35099 semapv:UnspecifiedMatching +obo:GARD_18047 Craniosynostosis 3 skos:exactMatch OMIM:615314 semapv:UnspecifiedMatching +obo:GARD_18048 Craniosynostosis 6 skos:broadMatch Orphanet:35099 semapv:UnspecifiedMatching +obo:GARD_18048 Craniosynostosis 6 skos:exactMatch OMIM:616602 semapv:UnspecifiedMatching +obo:GARD_18049 Cornea plana 1, autosomal dominant skos:broadMatch Orphanet:53691 semapv:UnspecifiedMatching +obo:GARD_18049 Cornea plana 1, autosomal dominant skos:exactMatch OMIM:121400 semapv:UnspecifiedMatching +obo:GARD_18050 Cornea plana 2, autosomal recessive skos:broadMatch Orphanet:53691 semapv:UnspecifiedMatching +obo:GARD_18050 Cornea plana 2, autosomal recessive skos:exactMatch OMIM:217300 semapv:UnspecifiedMatching +obo:GARD_18051 Parietal foramina 1 skos:broadMatch Orphanet:60015 semapv:UnspecifiedMatching +obo:GARD_18051 Parietal foramina 1 skos:exactMatch OMIM:168500 semapv:UnspecifiedMatching +obo:GARD_18052 Parietal foramina 3 skos:broadMatch Orphanet:60015 semapv:UnspecifiedMatching +obo:GARD_18052 Parietal foramina 3 skos:exactMatch OMIM:609566 semapv:UnspecifiedMatching +obo:GARD_18053 Parietal foramina 2 skos:broadMatch Orphanet:60015 semapv:UnspecifiedMatching +obo:GARD_18053 Parietal foramina 2 skos:exactMatch OMIM:609597 semapv:UnspecifiedMatching +obo:GARD_18054 Bronchiectasis with or without elevated sweat chloride 1 skos:broadMatch Orphanet:60033 semapv:UnspecifiedMatching +obo:GARD_18054 Bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch OMIM:211400 semapv:UnspecifiedMatching +obo:GARD_18055 Bronchiectasis with or without elevated sweat chloride 2 skos:broadMatch Orphanet:60033 semapv:UnspecifiedMatching +obo:GARD_18055 Bronchiectasis with or without elevated sweat chloride 2 skos:exactMatch OMIM:613021 semapv:UnspecifiedMatching +obo:GARD_18056 Bronchiectasis with or without elevated sweat chloride 3 skos:broadMatch Orphanet:60033 semapv:UnspecifiedMatching +obo:GARD_18056 Bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch OMIM:613071 semapv:UnspecifiedMatching +obo:GARD_18057 Epilepsy, childhood absence, susceptibility to, 1 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +obo:GARD_18057 Epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch OMIM:600131 semapv:UnspecifiedMatching +obo:GARD_18058 Febrile seizures, familial, 8 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +obo:GARD_18058 Febrile seizures, familial, 8 skos:exactMatch OMIM:607681 semapv:UnspecifiedMatching +obo:GARD_18059 Epilepsy, idiopathic generalized, susceptibility to, 13 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +obo:GARD_18059 Epilepsy, idiopathic generalized, susceptibility to, 13 skos:exactMatch OMIM:611136 semapv:UnspecifiedMatching +obo:GARD_1806 Dentin dysplasia type II skos:exactMatch Orphanet:99791 semapv:UnspecifiedMatching +obo:GARD_1806 Dentin dysplasia type II skos:narrowMatch OMIM:125420 semapv:UnspecifiedMatching +obo:GARD_18060 Epilepsy, childhood absence, susceptibility to, 6 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +obo:GARD_18060 Epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch OMIM:611942 semapv:UnspecifiedMatching +obo:GARD_18061 Epilepsy, childhood absence, susceptibility to, 5 skos:broadMatch Orphanet:64280 semapv:UnspecifiedMatching +obo:GARD_18061 Epilepsy, childhood absence, susceptibility to, 5 skos:exactMatch OMIM:612269 semapv:UnspecifiedMatching +obo:GARD_18062 Ectodermal dysplasia 4, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +obo:GARD_18062 Ectodermal dysplasia 4, hair/nail type skos:exactMatch OMIM:602032 semapv:UnspecifiedMatching +obo:GARD_18063 Ectodermal dysplasia 5, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +obo:GARD_18063 Ectodermal dysplasia 5, hair/nail type skos:exactMatch OMIM:614927 semapv:UnspecifiedMatching +obo:GARD_18064 Ectodermal dysplasia 6, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +obo:GARD_18064 Ectodermal dysplasia 6, hair/nail type skos:exactMatch OMIM:614928 semapv:UnspecifiedMatching +obo:GARD_18065 Ectodermal dysplasia 7, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +obo:GARD_18065 Ectodermal dysplasia 7, hair/nail type skos:exactMatch OMIM:614929 semapv:UnspecifiedMatching +obo:GARD_18066 Ectodermal dysplasia 9, hair/nail type skos:broadMatch Orphanet:69084 semapv:UnspecifiedMatching +obo:GARD_18066 Ectodermal dysplasia 9, hair/nail type skos:exactMatch OMIM:614931 semapv:UnspecifiedMatching +obo:GARD_18067 Mitochondrial complex i deficiency, nuclear type 32 skos:broadMatch Orphanet:70474 semapv:UnspecifiedMatching +obo:GARD_18067 Mitochondrial complex i deficiency, nuclear type 32 skos:exactMatch OMIM:618252 semapv:UnspecifiedMatching +obo:GARD_18068 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:broadMatch Orphanet:71289 semapv:UnspecifiedMatching +obo:GARD_18068 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:exactMatch OMIM:605432 semapv:UnspecifiedMatching +obo:GARD_18069 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:broadMatch Orphanet:71289 semapv:UnspecifiedMatching +obo:GARD_18069 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:exactMatch OMIM:616738 semapv:UnspecifiedMatching +obo:GARD_1807 Dentin dysplasia type I skos:exactMatch Orphanet:99789 semapv:UnspecifiedMatching +obo:GARD_18070 Cardiomyopathy, familial restrictive, 1 skos:broadMatch Orphanet:75249 semapv:UnspecifiedMatching +obo:GARD_18070 Cardiomyopathy, familial restrictive, 1 skos:exactMatch OMIM:115210 semapv:UnspecifiedMatching +obo:GARD_18071 Cardiomyopathy, familial restrictive, 2 skos:broadMatch Orphanet:75249 semapv:UnspecifiedMatching +obo:GARD_18071 Cardiomyopathy, familial restrictive, 2 skos:exactMatch OMIM:609578 semapv:UnspecifiedMatching +obo:GARD_18072 Cardiomyopathy, familial restrictive, 3 skos:broadMatch Orphanet:75249 semapv:UnspecifiedMatching +obo:GARD_18072 Cardiomyopathy, familial restrictive, 3 skos:exactMatch OMIM:612422 semapv:UnspecifiedMatching +obo:GARD_18073 Hyperpigmentation with or without hypopigmentation, familial progressive skos:broadMatch Orphanet:79146 semapv:UnspecifiedMatching +obo:GARD_18073 Hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch OMIM:145250 semapv:UnspecifiedMatching +obo:GARD_18074 Hyperpigmentation, familial progressive, 1 skos:broadMatch Orphanet:79146 semapv:UnspecifiedMatching +obo:GARD_18074 Hyperpigmentation, familial progressive, 1 skos:exactMatch OMIM:614233 semapv:UnspecifiedMatching +obo:GARD_18075 Hyperalphalipoproteinemia 1 skos:broadMatch Orphanet:79506 semapv:UnspecifiedMatching +obo:GARD_18075 Hyperalphalipoproteinemia 1 skos:exactMatch OMIM:143470 semapv:UnspecifiedMatching +obo:GARD_18076 Apolipoprotein c-iii deficiency skos:broadMatch Orphanet:79506 semapv:UnspecifiedMatching +obo:GARD_18076 Apolipoprotein c-iii deficiency skos:exactMatch OMIM:614028 semapv:UnspecifiedMatching +obo:GARD_18077 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:broadMatch Orphanet:83473 semapv:UnspecifiedMatching +obo:GARD_18077 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch OMIM:603387 semapv:UnspecifiedMatching +obo:GARD_18078 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:broadMatch Orphanet:83473 semapv:UnspecifiedMatching +obo:GARD_18078 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch OMIM:615937 semapv:UnspecifiedMatching +obo:GARD_18079 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:broadMatch Orphanet:83473 semapv:UnspecifiedMatching +obo:GARD_18079 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:exactMatch OMIM:615938 semapv:UnspecifiedMatching +obo:GARD_1808 Dentin dysplasia-sclerotic bones syndrome skos:exactMatch Orphanet:99792 semapv:UnspecifiedMatching +obo:GARD_1808 Dentin dysplasia-sclerotic bones syndrome skos:narrowMatch OMIM:125440 semapv:UnspecifiedMatching +obo:GARD_18080 Nephronophthisis 11 skos:broadMatch Orphanet:84081 semapv:UnspecifiedMatching +obo:GARD_18080 Nephronophthisis 11 skos:exactMatch OMIM:613550 semapv:UnspecifiedMatching +obo:GARD_18081 Nephronophthisis 19 skos:broadMatch Orphanet:84081 semapv:UnspecifiedMatching +obo:GARD_18081 Nephronophthisis 19 skos:exactMatch OMIM:616217 semapv:UnspecifiedMatching +obo:GARD_18082 Epilepsy, familial adult myoclonic, 1 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +obo:GARD_18082 Epilepsy, familial adult myoclonic, 1 skos:exactMatch OMIM:601068 semapv:UnspecifiedMatching +obo:GARD_18083 Epilepsy, familial adult myoclonic, 2 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +obo:GARD_18083 Epilepsy, familial adult myoclonic, 2 skos:exactMatch OMIM:607876 semapv:UnspecifiedMatching +obo:GARD_18084 Epilepsy, familial adult myoclonic, 3 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +obo:GARD_18084 Epilepsy, familial adult myoclonic, 3 skos:exactMatch OMIM:613608 semapv:UnspecifiedMatching +obo:GARD_18085 Epilepsy, familial adult myoclonic, 4 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +obo:GARD_18085 Epilepsy, familial adult myoclonic, 4 skos:exactMatch OMIM:615127 semapv:UnspecifiedMatching +obo:GARD_18086 Epilepsy, familial adult myoclonic, 5 skos:broadMatch Orphanet:86814 semapv:UnspecifiedMatching +obo:GARD_18086 Epilepsy, familial adult myoclonic, 5 skos:exactMatch OMIM:615400 semapv:UnspecifiedMatching +obo:GARD_18087 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:broadMatch Orphanet:88637 semapv:UnspecifiedMatching +obo:GARD_18087 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch OMIM:607694 semapv:UnspecifiedMatching +obo:GARD_18088 Leukodystrophy, hypomyelinating, 11 skos:broadMatch Orphanet:88637 semapv:UnspecifiedMatching +obo:GARD_18088 Leukodystrophy, hypomyelinating, 11 skos:exactMatch OMIM:616494 semapv:UnspecifiedMatching +obo:GARD_18089 Hemolytic anemia due to glutathione reductase deficiency skos:broadMatch Orphanet:90030 semapv:UnspecifiedMatching +obo:GARD_18089 Hemolytic anemia due to glutathione reductase deficiency skos:exactMatch OMIM:618660 semapv:UnspecifiedMatching +obo:GARD_18090 Hydrocephalus, congenital communicating, 1 skos:broadMatch Orphanet:90030 semapv:UnspecifiedMatching +obo:GARD_18090 Hydrocephalus, congenital communicating, 1 skos:exactMatch OMIM:618667 semapv:UnspecifiedMatching +obo:GARD_18091 Neuropathy, hereditary motor and sensory, type via, with optic atrophy skos:broadMatch Orphanet:90120 semapv:UnspecifiedMatching +obo:GARD_18091 Neuropathy, hereditary motor and sensory, type via, with optic atrophy skos:exactMatch OMIM:601152 semapv:UnspecifiedMatching +obo:GARD_18092 Neuropathy, hereditary motor and sensory, type vib, with optic atrophy skos:broadMatch Orphanet:90120 semapv:UnspecifiedMatching +obo:GARD_18092 Neuropathy, hereditary motor and sensory, type vib, with optic atrophy skos:exactMatch OMIM:616505 semapv:UnspecifiedMatching +obo:GARD_18093 Hypotrichosis 2 skos:broadMatch Orphanet:90368 semapv:UnspecifiedMatching +obo:GARD_18093 Hypotrichosis 2 skos:exactMatch OMIM:146520 semapv:UnspecifiedMatching +obo:GARD_18094 Hypotrichosis 3 skos:broadMatch Orphanet:90368 semapv:UnspecifiedMatching +obo:GARD_18094 Hypotrichosis 3 skos:exactMatch OMIM:613981 semapv:UnspecifiedMatching +obo:GARD_18095 Deafness, x-linked 3 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +obo:GARD_18095 Deafness, x-linked 3 skos:exactMatch OMIM:300030 semapv:UnspecifiedMatching +obo:GARD_18096 Deafness, x-linked 4 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +obo:GARD_18096 Deafness, x-linked 4 skos:exactMatch OMIM:300066 semapv:UnspecifiedMatching +obo:GARD_18097 Deafness, x-linked 6 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +obo:GARD_18097 Deafness, x-linked 6 skos:exactMatch OMIM:300914 semapv:UnspecifiedMatching +obo:GARD_18098 Deafness, x-linked 1 skos:broadMatch Orphanet:90625 semapv:UnspecifiedMatching +obo:GARD_18098 Deafness, x-linked 1 skos:exactMatch OMIM:304500 semapv:UnspecifiedMatching +obo:GARD_18099 Deafness, autosomal dominant 2a skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18099 Deafness, autosomal dominant 2a skos:exactMatch OMIM:600101 semapv:UnspecifiedMatching +obo:GARD_181 Stargardt disease skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching +obo:GARD_181 Stargardt disease skos:narrowMatch OMIM:248200 semapv:UnspecifiedMatching +obo:GARD_181 Stargardt disease skos:narrowMatch OMIM:600110 semapv:UnspecifiedMatching +obo:GARD_181 Stargardt disease skos:narrowMatch OMIM:603786 semapv:UnspecifiedMatching +obo:GARD_1810 Radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch Orphanet:3270 semapv:UnspecifiedMatching +obo:GARD_1810 Radioulnar synostosis-developmental delay-hypotonia syndrome skos:narrowMatch OMIM:266255 semapv:UnspecifiedMatching +obo:GARD_18100 Deafness, autosomal dominant 4a skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18100 Deafness, autosomal dominant 4a skos:exactMatch OMIM:600652 semapv:UnspecifiedMatching +obo:GARD_18101 Deafness, autosomal dominant 6 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18101 Deafness, autosomal dominant 6 skos:exactMatch OMIM:600965 semapv:UnspecifiedMatching +obo:GARD_18102 Deafness, autosomal dominant 5 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18102 Deafness, autosomal dominant 5 skos:exactMatch OMIM:600994 semapv:UnspecifiedMatching +obo:GARD_18103 Deafness, autosomal dominant 10 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18103 Deafness, autosomal dominant 10 skos:exactMatch OMIM:601316 semapv:UnspecifiedMatching +obo:GARD_18104 Deafness, autosomal dominant 11 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18104 Deafness, autosomal dominant 11 skos:exactMatch OMIM:601317 semapv:UnspecifiedMatching +obo:GARD_18105 Deafness, autosomal dominant 9 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18105 Deafness, autosomal dominant 9 skos:exactMatch OMIM:601369 semapv:UnspecifiedMatching +obo:GARD_18106 Deafness, autosomal dominant 7 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18106 Deafness, autosomal dominant 7 skos:exactMatch OMIM:601412 semapv:UnspecifiedMatching +obo:GARD_18107 Deafness, autosomal dominant 12 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18107 Deafness, autosomal dominant 12 skos:exactMatch OMIM:601543 semapv:UnspecifiedMatching +obo:GARD_18108 Deafness, autosomal dominant 13 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18108 Deafness, autosomal dominant 13 skos:exactMatch OMIM:601868 semapv:UnspecifiedMatching +obo:GARD_18109 Deafness, autosomal dominant 15 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18109 Deafness, autosomal dominant 15 skos:exactMatch OMIM:602459 semapv:UnspecifiedMatching +obo:GARD_18110 Deafness, autosomal dominant 16 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18110 Deafness, autosomal dominant 16 skos:exactMatch OMIM:603964 semapv:UnspecifiedMatching +obo:GARD_18111 Deafness, autosomal dominant 20 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18111 Deafness, autosomal dominant 20 skos:exactMatch OMIM:604717 semapv:UnspecifiedMatching +obo:GARD_18112 Deafness, autosomal dominant 25 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18112 Deafness, autosomal dominant 25 skos:exactMatch OMIM:605583 semapv:UnspecifiedMatching +obo:GARD_18113 Deafness, autosomal dominant 18 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18113 Deafness, autosomal dominant 18 skos:exactMatch OMIM:606012 semapv:UnspecifiedMatching +obo:GARD_18114 Deafness, autosomal dominant 30 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18114 Deafness, autosomal dominant 30 skos:exactMatch OMIM:606451 semapv:UnspecifiedMatching +obo:GARD_18115 Deafness, autosomal dominant 36 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18115 Deafness, autosomal dominant 36 skos:exactMatch OMIM:606705 semapv:UnspecifiedMatching +obo:GARD_18116 Deafness, autosomal dominant 21 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18116 Deafness, autosomal dominant 21 skos:exactMatch OMIM:607017 semapv:UnspecifiedMatching +obo:GARD_18117 Deafness, autosomal recessive skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18117 Deafness, autosomal recessive skos:exactMatch OMIM:607197 semapv:UnspecifiedMatching +obo:GARD_18118 Deafness, autosomal dominant 44 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18118 Deafness, autosomal dominant 44 skos:exactMatch OMIM:607453 semapv:UnspecifiedMatching +obo:GARD_18119 Deafness, autosomal dominant 52 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18119 Deafness, autosomal dominant 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching +obo:GARD_18120 Deafness, autosomal dominant 48 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18120 Deafness, autosomal dominant 48 skos:exactMatch OMIM:607841 semapv:UnspecifiedMatching +obo:GARD_18121 Deafness, autosomal dominant 41 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18121 Deafness, autosomal dominant 41 skos:exactMatch OMIM:608224 semapv:UnspecifiedMatching +obo:GARD_18122 Deafness, autosomal dominant 49 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18122 Deafness, autosomal dominant 49 skos:exactMatch OMIM:608372 semapv:UnspecifiedMatching +obo:GARD_18123 Deafness, autosomal dominant 43 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18123 Deafness, autosomal dominant 43 skos:exactMatch OMIM:608394 semapv:UnspecifiedMatching +obo:GARD_18124 Deafness, autosomal dominant 28 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18124 Deafness, autosomal dominant 28 skos:exactMatch OMIM:608641 semapv:UnspecifiedMatching +obo:GARD_18125 Deafness, autosomal dominant 31 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18125 Deafness, autosomal dominant 31 skos:exactMatch OMIM:608645 semapv:UnspecifiedMatching +obo:GARD_18126 Deafness, autosomal dominant 47 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18126 Deafness, autosomal dominant 47 skos:exactMatch OMIM:608652 semapv:UnspecifiedMatching +obo:GARD_18127 Auditory neuropathy, autosomal dominant 1 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18127 Auditory neuropathy, autosomal dominant 1 skos:exactMatch OMIM:609129 semapv:UnspecifiedMatching +obo:GARD_18128 Deafness, autosomal dominant 27 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18128 Deafness, autosomal dominant 27 skos:exactMatch OMIM:612431 semapv:UnspecifiedMatching +obo:GARD_18129 Deafness, autosomal dominant 59 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18129 Deafness, autosomal dominant 59 skos:exactMatch OMIM:612642 semapv:UnspecifiedMatching +obo:GARD_1813 Dermatoleukodystrophy skos:exactMatch Orphanet:1659 semapv:UnspecifiedMatching +obo:GARD_1813 Dermatoleukodystrophy skos:narrowMatch OMIM:221790 semapv:UnspecifiedMatching +obo:GARD_18130 Deafness, autosomal dominant 3b skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18130 Deafness, autosomal dominant 3b skos:exactMatch OMIM:612643 semapv:UnspecifiedMatching +obo:GARD_18131 Deafness, autosomal dominant 2b skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18131 Deafness, autosomal dominant 2b skos:exactMatch OMIM:612644 semapv:UnspecifiedMatching +obo:GARD_18132 Deafness, autosomal dominant 50 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18132 Deafness, autosomal dominant 50 skos:exactMatch OMIM:613074 semapv:UnspecifiedMatching +obo:GARD_18133 Deafness, autosomal dominant 51 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18133 Deafness, autosomal dominant 51 skos:exactMatch OMIM:613558 semapv:UnspecifiedMatching +obo:GARD_18134 Deafness, autosomal dominant 64 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18134 Deafness, autosomal dominant 64 skos:exactMatch OMIM:614152 semapv:UnspecifiedMatching +obo:GARD_18135 Deafness, autosomal dominant 33 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18135 Deafness, autosomal dominant 33 skos:exactMatch OMIM:614211 semapv:UnspecifiedMatching +obo:GARD_18136 Deafness, autosomal dominant 4b skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18136 Deafness, autosomal dominant 4b skos:exactMatch OMIM:614614 semapv:UnspecifiedMatching +obo:GARD_18137 Deafness, autosomal dominant 56 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18137 Deafness, autosomal dominant 56 skos:exactMatch OMIM:615629 semapv:UnspecifiedMatching +obo:GARD_18138 Deafness, autosomal dominant 54 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18138 Deafness, autosomal dominant 54 skos:exactMatch OMIM:615649 semapv:UnspecifiedMatching +obo:GARD_18139 Deafness, autosomal dominant 58 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18139 Deafness, autosomal dominant 58 skos:exactMatch OMIM:615654 semapv:UnspecifiedMatching +obo:GARD_1814 Dermatoosteolysis, Kirghizian type skos:exactMatch Orphanet:1657 semapv:UnspecifiedMatching +obo:GARD_1814 Dermatoosteolysis, Kirghizian type skos:narrowMatch OMIM:221810 semapv:UnspecifiedMatching +obo:GARD_18140 Deafness, autosomal dominant 65 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18140 Deafness, autosomal dominant 65 skos:exactMatch OMIM:616044 semapv:UnspecifiedMatching +obo:GARD_18141 Deafness, autosomal dominant 67 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18141 Deafness, autosomal dominant 67 skos:exactMatch OMIM:616340 semapv:UnspecifiedMatching +obo:GARD_18142 Deafness, autosomal dominant 40 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18142 Deafness, autosomal dominant 40 skos:exactMatch OMIM:616357 semapv:UnspecifiedMatching +obo:GARD_18143 Deafness, autosomal dominant 69 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18143 Deafness, autosomal dominant 69 skos:exactMatch OMIM:616697 semapv:UnspecifiedMatching +obo:GARD_18144 Deafness, autosomal dominant 68 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18144 Deafness, autosomal dominant 68 skos:exactMatch OMIM:616707 semapv:UnspecifiedMatching +obo:GARD_18145 Deafness, autosomal dominant 70 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18145 Deafness, autosomal dominant 70 skos:exactMatch OMIM:616968 semapv:UnspecifiedMatching +obo:GARD_18146 Deafness, autosomal dominant 66 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18146 Deafness, autosomal dominant 66 skos:exactMatch OMIM:616969 semapv:UnspecifiedMatching +obo:GARD_18147 Deafness, autosomal dominant 71 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18147 Deafness, autosomal dominant 71 skos:exactMatch OMIM:617605 semapv:UnspecifiedMatching +obo:GARD_18148 Deafness, autosomal dominant 72 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18148 Deafness, autosomal dominant 72 skos:exactMatch OMIM:617606 semapv:UnspecifiedMatching +obo:GARD_18149 Deafness, autosomal dominant 73 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18149 Deafness, autosomal dominant 73 skos:exactMatch OMIM:617663 semapv:UnspecifiedMatching +obo:GARD_1815 Dermochondrocorneal dystrophy skos:exactMatch Orphanet:79149 semapv:UnspecifiedMatching +obo:GARD_1815 Dermochondrocorneal dystrophy skos:narrowMatch OMIM:221800 semapv:UnspecifiedMatching +obo:GARD_18150 Deafness, autosomal recessive 110 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18150 Deafness, autosomal recessive 110 skos:exactMatch OMIM:618094 semapv:UnspecifiedMatching +obo:GARD_18151 Deafness, autosomal dominant 74 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18151 Deafness, autosomal dominant 74 skos:exactMatch OMIM:618140 semapv:UnspecifiedMatching +obo:GARD_18152 Deafness, autosomal recessive 113 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18152 Deafness, autosomal recessive 113 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_18152 Deafness, autosomal recessive 113 skos:exactMatch OMIM:618410 semapv:UnspecifiedMatching +obo:GARD_18153 Deafness, autosomal dominant 75 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18153 Deafness, autosomal dominant 75 skos:exactMatch OMIM:618778 semapv:UnspecifiedMatching +obo:GARD_18154 Deafness, autosomal dominant 76 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18154 Deafness, autosomal dominant 76 skos:exactMatch OMIM:618787 semapv:UnspecifiedMatching +obo:GARD_18155 Deafness, autosomal dominant 77 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18155 Deafness, autosomal dominant 77 skos:exactMatch OMIM:618915 semapv:UnspecifiedMatching +obo:GARD_18156 Deafness, autosomal dominant 78 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18156 Deafness, autosomal dominant 78 skos:exactMatch OMIM:619081 semapv:UnspecifiedMatching +obo:GARD_18157 Deafness, autosomal dominant 79 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18157 Deafness, autosomal dominant 79 skos:exactMatch OMIM:619086 semapv:UnspecifiedMatching +obo:GARD_18158 Deafness, autosomal dominant 80 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_18158 Deafness, autosomal dominant 80 skos:exactMatch OMIM:619274 semapv:UnspecifiedMatching +obo:GARD_18159 Deafness, sensorineural, autosomal-mitochondrial type skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +obo:GARD_18159 Deafness, sensorineural, autosomal-mitochondrial type skos:exactMatch OMIM:221745 semapv:UnspecifiedMatching +obo:GARD_1816 Dermoodontodysplasia skos:exactMatch Orphanet:1660 semapv:UnspecifiedMatching +obo:GARD_1816 Dermoodontodysplasia skos:narrowMatch OMIM:125640 semapv:UnspecifiedMatching +obo:GARD_18160 Deafness, nonsyndromic sensorineural, mitochondrial skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +obo:GARD_18160 Deafness, nonsyndromic sensorineural, mitochondrial skos:exactMatch OMIM:500008 semapv:UnspecifiedMatching +obo:GARD_18161 Deafness, aminoglycoside-induced skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +obo:GARD_18161 Deafness, aminoglycoside-induced skos:exactMatch OMIM:580000 semapv:UnspecifiedMatching +obo:GARD_18162 Ptosis, hereditary congenital 1 skos:broadMatch Orphanet:91411 semapv:UnspecifiedMatching +obo:GARD_18162 Ptosis, hereditary congenital 1 skos:exactMatch OMIM:178300 semapv:UnspecifiedMatching +obo:GARD_18163 Ptosis, hereditary congenital 2 skos:broadMatch Orphanet:91411 semapv:UnspecifiedMatching +obo:GARD_18163 Ptosis, hereditary congenital 2 skos:exactMatch OMIM:300245 semapv:UnspecifiedMatching +obo:GARD_18164 Fibrosis of extraocular muscles, congenital, 5 skos:broadMatch Orphanet:91411 semapv:UnspecifiedMatching +obo:GARD_18164 Fibrosis of extraocular muscles, congenital, 5 skos:exactMatch OMIM:616219 semapv:UnspecifiedMatching +obo:GARD_18165 Alacrima, congenital, autosomal dominant skos:broadMatch Orphanet:91416 semapv:UnspecifiedMatching +obo:GARD_18165 Alacrima, congenital, autosomal dominant skos:exactMatch OMIM:103420 semapv:UnspecifiedMatching +obo:GARD_18166 Alacrima, congenital, autosomal recessive skos:broadMatch Orphanet:91416 semapv:UnspecifiedMatching +obo:GARD_18166 Alacrima, congenital, autosomal recessive skos:exactMatch OMIM:601549 semapv:UnspecifiedMatching +obo:GARD_18167 Persistent hyperplastic primary vitreous, autosomal recessive skos:broadMatch Orphanet:91495 semapv:UnspecifiedMatching +obo:GARD_18167 Persistent hyperplastic primary vitreous, autosomal recessive skos:exactMatch OMIM:221900 semapv:UnspecifiedMatching +obo:GARD_18168 Persistent hyperplastic primary vitreous, autosomal dominant skos:broadMatch Orphanet:91495 semapv:UnspecifiedMatching +obo:GARD_18168 Persistent hyperplastic primary vitreous, autosomal dominant skos:exactMatch OMIM:611308 semapv:UnspecifiedMatching +obo:GARD_18169 Vitamin d-dependent rickets, type 2a skos:broadMatch Orphanet:93160 semapv:UnspecifiedMatching +obo:GARD_18169 Vitamin d-dependent rickets, type 2a skos:exactMatch OMIM:277440 semapv:UnspecifiedMatching +obo:GARD_18170 Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor skos:broadMatch Orphanet:93160 semapv:UnspecifiedMatching +obo:GARD_18170 Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor skos:exactMatch OMIM:600785 semapv:UnspecifiedMatching +obo:GARD_18171 Vitamin d-dependent rickets, type 3 skos:broadMatch Orphanet:93160 semapv:UnspecifiedMatching +obo:GARD_18171 Vitamin d-dependent rickets, type 3 skos:exactMatch OMIM:619073 semapv:UnspecifiedMatching +obo:GARD_18172 Polydactyly, postaxial, type a5 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18172 Polydactyly, postaxial, type a5 skos:exactMatch OMIM:263450 semapv:UnspecifiedMatching +obo:GARD_18173 Polydactyly, postaxial, type a2 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18173 Polydactyly, postaxial, type a2 skos:exactMatch OMIM:602085 semapv:UnspecifiedMatching +obo:GARD_18174 Polydactyly, postaxial, type a3 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18174 Polydactyly, postaxial, type a3 skos:exactMatch OMIM:607324 semapv:UnspecifiedMatching +obo:GARD_18175 Polydactyly, postaxial, type a4 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18175 Polydactyly, postaxial, type a4 skos:exactMatch OMIM:608562 semapv:UnspecifiedMatching +obo:GARD_18176 Polydactyly, postaxial, type a6 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18176 Polydactyly, postaxial, type a6 skos:exactMatch OMIM:615226 semapv:UnspecifiedMatching +obo:GARD_18177 Polydactyly, postaxial, type a9 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18177 Polydactyly, postaxial, type a9 skos:exactMatch OMIM:618219 semapv:UnspecifiedMatching +obo:GARD_18178 Polydactyly, postaxial, type a10 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_18178 Polydactyly, postaxial, type a10 skos:exactMatch OMIM:618498 semapv:UnspecifiedMatching +obo:GARD_18179 Nephronophthisis 3 skos:broadMatch Orphanet:93589 semapv:UnspecifiedMatching +obo:GARD_18179 Nephronophthisis 3 skos:exactMatch OMIM:604387 semapv:UnspecifiedMatching +obo:GARD_1818 Desbuquois syndrome skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching +obo:GARD_1818 Desbuquois syndrome skos:narrowMatch OMIM:251450 semapv:UnspecifiedMatching +obo:GARD_1818 Desbuquois syndrome skos:narrowMatch OMIM:615777 semapv:UnspecifiedMatching +obo:GARD_18180 Nephronophthisis-like nephropathy 1 skos:broadMatch Orphanet:93589 semapv:UnspecifiedMatching +obo:GARD_18180 Nephronophthisis-like nephropathy 1 skos:exactMatch OMIM:613159 semapv:UnspecifiedMatching +obo:GARD_18181 Nephronophthisis 20 skos:broadMatch Orphanet:93589 semapv:UnspecifiedMatching +obo:GARD_18181 Nephronophthisis 20 skos:exactMatch OMIM:617271 semapv:UnspecifiedMatching +obo:GARD_18182 Nephronophthisis 2 skos:broadMatch Orphanet:93591 semapv:UnspecifiedMatching +obo:GARD_18182 Nephronophthisis 2 skos:exactMatch OMIM:602088 semapv:UnspecifiedMatching +obo:GARD_18183 Nephronophthisis 16 skos:broadMatch Orphanet:93591 semapv:UnspecifiedMatching +obo:GARD_18183 Nephronophthisis 16 skos:broadMatch Orphanet:93592 semapv:UnspecifiedMatching +obo:GARD_18183 Nephronophthisis 16 skos:exactMatch OMIM:615382 semapv:UnspecifiedMatching +obo:GARD_18184 Hypospadias 3, autosomal skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +obo:GARD_18184 Hypospadias 3, autosomal skos:exactMatch OMIM:146450 semapv:UnspecifiedMatching +obo:GARD_18185 Hypospadias 1, x-linked skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +obo:GARD_18185 Hypospadias 1, x-linked skos:exactMatch OMIM:300633 semapv:UnspecifiedMatching +obo:GARD_18186 Hypospadias 2, x-linked skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +obo:GARD_18186 Hypospadias 2, x-linked skos:exactMatch OMIM:300758 semapv:UnspecifiedMatching +obo:GARD_18187 Hypospadias 4, x-linked, susceptibility to skos:broadMatch Orphanet:95706 semapv:UnspecifiedMatching +obo:GARD_18187 Hypospadias 4, x-linked, susceptibility to skos:exactMatch OMIM:300856 semapv:UnspecifiedMatching +obo:GARD_18188 Thyroid dyshormonogenesis 1 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_18188 Thyroid dyshormonogenesis 1 skos:exactMatch OMIM:274400 semapv:UnspecifiedMatching +obo:GARD_18189 Thyroid dyshormonogenesis 2a skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_18189 Thyroid dyshormonogenesis 2a skos:exactMatch OMIM:274500 semapv:UnspecifiedMatching +obo:GARD_18190 Thyroid dyshormonogenesis 3 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_18190 Thyroid dyshormonogenesis 3 skos:exactMatch OMIM:274700 semapv:UnspecifiedMatching +obo:GARD_18191 Thyroid dyshormonogenesis 4 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_18191 Thyroid dyshormonogenesis 4 skos:exactMatch OMIM:274800 semapv:UnspecifiedMatching +obo:GARD_18192 Thyroid dyshormonogenesis 5 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_18192 Thyroid dyshormonogenesis 5 skos:exactMatch OMIM:274900 semapv:UnspecifiedMatching +obo:GARD_18193 Thyroid dyshormonogenesis 6 skos:broadMatch Orphanet:95716 semapv:UnspecifiedMatching +obo:GARD_18193 Thyroid dyshormonogenesis 6 skos:exactMatch OMIM:607200 semapv:UnspecifiedMatching +obo:GARD_18194 Immunodeficiency 75 skos:broadMatch Orphanet:98291 semapv:UnspecifiedMatching +obo:GARD_18194 Immunodeficiency 75 skos:exactMatch OMIM:619126 semapv:UnspecifiedMatching +obo:GARD_18195 Vitamin k-dependent clotting factors, combined deficiency of, 1 skos:broadMatch Orphanet:98434 semapv:UnspecifiedMatching +obo:GARD_18195 Vitamin k-dependent clotting factors, combined deficiency of, 1 skos:exactMatch OMIM:277450 semapv:UnspecifiedMatching +obo:GARD_18196 Vitamin k-dependent clotting factors, combined deficiency of, 2 skos:broadMatch Orphanet:98434 semapv:UnspecifiedMatching +obo:GARD_18196 Vitamin k-dependent clotting factors, combined deficiency of, 2 skos:exactMatch OMIM:607473 semapv:UnspecifiedMatching +obo:GARD_18197 Myopia, high, with cataract and vitreoretinal degeneration skos:broadMatch Orphanet:98619 semapv:UnspecifiedMatching +obo:GARD_18197 Myopia, high, with cataract and vitreoretinal degeneration skos:exactMatch OMIM:614292 semapv:UnspecifiedMatching +obo:GARD_18198 Myopia 23, autosomal recessive skos:broadMatch Orphanet:98619 semapv:UnspecifiedMatching +obo:GARD_18198 Myopia 23, autosomal recessive skos:exactMatch OMIM:615431 semapv:UnspecifiedMatching +obo:GARD_18199 Optic atrophy 9 skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +obo:GARD_18199 Optic atrophy 9 skos:exactMatch OMIM:616289 semapv:UnspecifiedMatching +obo:GARD_182 Best vitelliform macular dystrophy skos:exactMatch Orphanet:1243 semapv:UnspecifiedMatching +obo:GARD_182 Best vitelliform macular dystrophy skos:narrowMatch OMIM:153700 semapv:UnspecifiedMatching +obo:GARD_1820 Desmoid tumor skos:exactMatch Orphanet:873 semapv:UnspecifiedMatching +obo:GARD_1820 Desmoid tumor skos:narrowMatch OMIM:135290 semapv:UnspecifiedMatching +obo:GARD_18200 Optic atrophy 10 with or without ataxia, mental retardation, and seizures skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +obo:GARD_18200 Optic atrophy 10 with or without ataxia, mental retardation, and seizures skos:exactMatch OMIM:616732 semapv:UnspecifiedMatching +obo:GARD_18201 Optic atrophy 11 skos:broadMatch Orphanet:98676 semapv:UnspecifiedMatching +obo:GARD_18201 Optic atrophy 11 skos:exactMatch OMIM:617302 semapv:UnspecifiedMatching +obo:GARD_18202 Epilepsy, familial focal, with variable foci 1 skos:broadMatch Orphanet:98820 semapv:UnspecifiedMatching +obo:GARD_18202 Epilepsy, familial focal, with variable foci 1 skos:exactMatch OMIM:604364 semapv:UnspecifiedMatching +obo:GARD_18203 Epilepsy, familial focal, with variable foci 2 skos:broadMatch Orphanet:98820 semapv:UnspecifiedMatching +obo:GARD_18203 Epilepsy, familial focal, with variable foci 2 skos:exactMatch OMIM:617116 semapv:UnspecifiedMatching +obo:GARD_18204 Epilepsy, familial focal, with variable foci 3 skos:broadMatch Orphanet:98820 semapv:UnspecifiedMatching +obo:GARD_18204 Epilepsy, familial focal, with variable foci 3 skos:exactMatch OMIM:617118 semapv:UnspecifiedMatching +obo:GARD_18205 Interstitial pneumonitis, desquamative, familial skos:broadMatch Orphanet:98852 semapv:UnspecifiedMatching +obo:GARD_18205 Interstitial pneumonitis, desquamative, familial skos:exactMatch OMIM:263000 semapv:UnspecifiedMatching +obo:GARD_18206 Emery-dreifuss muscular dystrophy 4, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +obo:GARD_18206 Emery-dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch OMIM:612998 semapv:UnspecifiedMatching +obo:GARD_18207 Emery-dreifuss muscular dystrophy 5, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +obo:GARD_18207 Emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch OMIM:612999 semapv:UnspecifiedMatching +obo:GARD_18208 Emery-dreifuss muscular dystrophy 7, autosomal dominant skos:broadMatch Orphanet:98853 semapv:UnspecifiedMatching +obo:GARD_18208 Emery-dreifuss muscular dystrophy 7, autosomal dominant skos:exactMatch OMIM:614302 semapv:UnspecifiedMatching +obo:GARD_18209 Emery-dreifuss muscular dystrophy 3, autosomal recessive skos:broadMatch Orphanet:98855 semapv:UnspecifiedMatching +obo:GARD_18209 Emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch OMIM:616516 semapv:UnspecifiedMatching +obo:GARD_18210 Myasthenic syndrome, congenital, 5 skos:broadMatch Orphanet:98915 semapv:UnspecifiedMatching +obo:GARD_18210 Myasthenic syndrome, congenital, 5 skos:exactMatch OMIM:603034 semapv:UnspecifiedMatching +obo:GARD_18211 Guillain-barre syndrome, familial skos:broadMatch Orphanet:98916 semapv:UnspecifiedMatching +obo:GARD_18211 Guillain-barre syndrome, familial skos:exactMatch OMIM:139393 semapv:UnspecifiedMatching +obo:GARD_18212 Corneal dystrophy, posterior polymorphous, 1 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +obo:GARD_18212 Corneal dystrophy, posterior polymorphous, 1 skos:exactMatch OMIM:122000 semapv:UnspecifiedMatching +obo:GARD_18213 Corneal dystrophy, posterior polymorphous, 2 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +obo:GARD_18213 Corneal dystrophy, posterior polymorphous, 2 skos:exactMatch OMIM:609140 semapv:UnspecifiedMatching +obo:GARD_18214 Corneal dystrophy, posterior polymorphous, 3 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +obo:GARD_18214 Corneal dystrophy, posterior polymorphous, 3 skos:exactMatch OMIM:609141 semapv:UnspecifiedMatching +obo:GARD_18215 Corneal dystrophy, posterior polymorphous, 4 skos:broadMatch Orphanet:98973 semapv:UnspecifiedMatching +obo:GARD_18215 Corneal dystrophy, posterior polymorphous, 4 skos:exactMatch OMIM:618031 semapv:UnspecifiedMatching +obo:GARD_18216 Corneal dystrophy, fuchs endothelial, 1 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18216 Corneal dystrophy, fuchs endothelial, 1 skos:exactMatch OMIM:136800 semapv:UnspecifiedMatching +obo:GARD_18217 Corneal dystrophy, fuchs endothelial, 2 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18217 Corneal dystrophy, fuchs endothelial, 2 skos:exactMatch OMIM:610158 semapv:UnspecifiedMatching +obo:GARD_18218 Corneal dystrophy, fuchs endothelial, 3 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18218 Corneal dystrophy, fuchs endothelial, 3 skos:exactMatch OMIM:613267 semapv:UnspecifiedMatching +obo:GARD_18219 Corneal dystrophy, fuchs endothelial, 4 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18219 Corneal dystrophy, fuchs endothelial, 4 skos:exactMatch OMIM:613268 semapv:UnspecifiedMatching +obo:GARD_18220 Corneal dystrophy, fuchs endothelial, 5 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18220 Corneal dystrophy, fuchs endothelial, 5 skos:exactMatch OMIM:613269 semapv:UnspecifiedMatching +obo:GARD_18221 Corneal dystrophy, fuchs endothelial, 6 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18221 Corneal dystrophy, fuchs endothelial, 6 skos:exactMatch OMIM:613270 semapv:UnspecifiedMatching +obo:GARD_18222 Corneal dystrophy, fuchs endothelial, 7 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18222 Corneal dystrophy, fuchs endothelial, 7 skos:exactMatch OMIM:613271 semapv:UnspecifiedMatching +obo:GARD_18223 Corneal dystrophy, fuchs endothelial, 8 skos:broadMatch Orphanet:98974 semapv:UnspecifiedMatching +obo:GARD_18223 Corneal dystrophy, fuchs endothelial, 8 skos:exactMatch OMIM:615523 semapv:UnspecifiedMatching +obo:GARD_18224 Glaucoma 3, primary congenital, a skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +obo:GARD_18224 Glaucoma 3, primary congenital, a skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_18224 Glaucoma 3, primary congenital, a skos:exactMatch OMIM:231300 semapv:UnspecifiedMatching +obo:GARD_18225 Glaucoma 3, primary congenital, c skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +obo:GARD_18225 Glaucoma 3, primary congenital, c skos:exactMatch OMIM:613085 semapv:UnspecifiedMatching +obo:GARD_18226 Glaucoma 3, primary congenital, d skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +obo:GARD_18226 Glaucoma 3, primary congenital, d skos:exactMatch OMIM:613086 semapv:UnspecifiedMatching +obo:GARD_18227 Glaucoma 3, primary congenital, e skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +obo:GARD_18227 Glaucoma 3, primary congenital, e skos:exactMatch OMIM:617272 semapv:UnspecifiedMatching +obo:GARD_18228 Glaucoma 1, open angle, j skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_18228 Glaucoma 1, open angle, j skos:exactMatch OMIM:608695 semapv:UnspecifiedMatching +obo:GARD_18229 Glaucoma 1, open angle, k skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_18229 Glaucoma 1, open angle, k skos:exactMatch OMIM:608696 semapv:UnspecifiedMatching +obo:GARD_1823 Familial developmental dysphasia skos:exactMatch Orphanet:1799 semapv:UnspecifiedMatching +obo:GARD_1823 Familial developmental dysphasia skos:narrowMatch OMIM:600117 semapv:UnspecifiedMatching +obo:GARD_18230 Glaucoma 1, open angle, m skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_18230 Glaucoma 1, open angle, m skos:exactMatch OMIM:610535 semapv:UnspecifiedMatching +obo:GARD_18231 Glaucoma 1, open angle, n skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_18231 Glaucoma 1, open angle, n skos:exactMatch OMIM:611274 semapv:UnspecifiedMatching +obo:GARD_18232 Cataract 25 skos:broadMatch Orphanet:98985 semapv:UnspecifiedMatching +obo:GARD_18232 Cataract 25 skos:exactMatch OMIM:605728 semapv:UnspecifiedMatching +obo:GARD_18233 Cataract 29 skos:broadMatch Orphanet:98990 semapv:UnspecifiedMatching +obo:GARD_18233 Cataract 29 skos:exactMatch OMIM:115800 semapv:UnspecifiedMatching +obo:GARD_18234 Cataract 41 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +obo:GARD_18234 Cataract 41 skos:exactMatch OMIM:116400 semapv:UnspecifiedMatching +obo:GARD_18235 Cataract 27 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +obo:GARD_18235 Cataract 27 skos:exactMatch OMIM:607304 semapv:UnspecifiedMatching +obo:GARD_18236 Cataract 33, multiple types skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +obo:GARD_18236 Cataract 33, multiple types skos:exactMatch OMIM:611391 semapv:UnspecifiedMatching +obo:GARD_18237 Macular dystrophy, patterned, 1 skos:broadMatch Orphanet:99001 semapv:UnspecifiedMatching +obo:GARD_18237 Macular dystrophy, patterned, 1 skos:exactMatch OMIM:169150 semapv:UnspecifiedMatching +obo:GARD_18238 Macular dystrophy, patterned, 2 skos:broadMatch Orphanet:99001 semapv:UnspecifiedMatching +obo:GARD_18238 Macular dystrophy, patterned, 2 skos:exactMatch OMIM:608970 semapv:UnspecifiedMatching +obo:GARD_18239 Reticular dystrophy of retinal pigment epithelium skos:broadMatch Orphanet:99002 semapv:UnspecifiedMatching +obo:GARD_18239 Reticular dystrophy of retinal pigment epithelium skos:exactMatch OMIM:179840 semapv:UnspecifiedMatching +obo:GARD_18240 Retinal dystrophy, reticular pigmentary, of posterior pole skos:broadMatch Orphanet:99002 semapv:UnspecifiedMatching +obo:GARD_18240 Retinal dystrophy, reticular pigmentary, of posterior pole skos:exactMatch OMIM:267800 semapv:UnspecifiedMatching +obo:GARD_18241 Retinal dystrophy with or without extraocular anomalies skos:broadMatch Orphanet:99002 semapv:UnspecifiedMatching +obo:GARD_18241 Retinal dystrophy with or without extraocular anomalies skos:exactMatch OMIM:617175 semapv:UnspecifiedMatching +obo:GARD_18242 Subaortic stenosis, membranous skos:broadMatch Orphanet:99051 semapv:UnspecifiedMatching +obo:GARD_18242 Subaortic stenosis, membranous skos:exactMatch OMIM:271950 semapv:UnspecifiedMatching +obo:GARD_18243 Cleft soft palate skos:broadMatch Orphanet:99772 semapv:UnspecifiedMatching +obo:GARD_18243 Cleft soft palate skos:exactMatch OMIM:119570 semapv:UnspecifiedMatching +obo:GARD_18244 Tooth agenesis, selective, 1 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18244 Tooth agenesis, selective, 1 skos:exactMatch OMIM:106600 semapv:UnspecifiedMatching +obo:GARD_18245 Tooth agenesis, selective, 4 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18245 Tooth agenesis, selective, 4 skos:exactMatch OMIM:150400 semapv:UnspecifiedMatching +obo:GARD_18246 Tooth agenesis, selective, x-linked, 1 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18246 Tooth agenesis, selective, x-linked, 1 skos:exactMatch OMIM:313500 semapv:UnspecifiedMatching +obo:GARD_18247 Tooth agenesis, selective, 3 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18247 Tooth agenesis, selective, 3 skos:exactMatch OMIM:604625 semapv:UnspecifiedMatching +obo:GARD_18248 Tooth agenesis, selective, 5 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18248 Tooth agenesis, selective, 5 skos:exactMatch OMIM:610926 semapv:UnspecifiedMatching +obo:GARD_18249 Tooth agenesis, selective, 7 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18249 Tooth agenesis, selective, 7 skos:exactMatch OMIM:616724 semapv:UnspecifiedMatching +obo:GARD_18250 Tooth agenesis, selective, 8 skos:broadMatch Orphanet:99798 semapv:UnspecifiedMatching +obo:GARD_18250 Tooth agenesis, selective, 8 skos:exactMatch OMIM:617073 semapv:UnspecifiedMatching +obo:GARD_18251 Myoglobinuria, acute recurrent, autosomal recessive skos:broadMatch Orphanet:99845 semapv:UnspecifiedMatching +obo:GARD_18251 Myoglobinuria, acute recurrent, autosomal recessive skos:exactMatch OMIM:268200 semapv:UnspecifiedMatching +obo:GARD_18252 Leukoencephalopathy, progressive, with ovarian failure skos:broadMatch Orphanet:99853 semapv:UnspecifiedMatching +obo:GARD_18252 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch OMIM:615889 semapv:UnspecifiedMatching +obo:GARD_18253 Hyperparathyroidism 1 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +obo:GARD_18253 Hyperparathyroidism 1 skos:exactMatch OMIM:145000 semapv:UnspecifiedMatching +obo:GARD_18254 Hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +obo:GARD_18254 Hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch OMIM:600166 semapv:UnspecifiedMatching +obo:GARD_18255 Hyperparathyroidism 3 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +obo:GARD_18255 Hyperparathyroidism 3 skos:exactMatch OMIM:610071 semapv:UnspecifiedMatching +obo:GARD_18256 Hyperparathyroidism 4 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +obo:GARD_18256 Hyperparathyroidism 4 skos:exactMatch OMIM:617343 semapv:UnspecifiedMatching +obo:GARD_18257 Hypoparathyroidism, familial isolated, 2 skos:broadMatch Orphanet:99879 semapv:UnspecifiedMatching +obo:GARD_18257 Hypoparathyroidism, familial isolated, 2 skos:exactMatch OMIM:618883 semapv:UnspecifiedMatching +obo:GARD_18258 Amelogenesis imperfecta, type iiib skos:broadMatch Orphanet:100032 semapv:UnspecifiedMatching +obo:GARD_18258 Amelogenesis imperfecta, type iiib skos:exactMatch OMIM:617607 semapv:UnspecifiedMatching +obo:GARD_18259 Angioedema induced by ace inhibitors, susceptibility to skos:broadMatch Orphanet:100057 semapv:UnspecifiedMatching +obo:GARD_18259 Angioedema induced by ace inhibitors, susceptibility to skos:exactMatch OMIM:300909 semapv:UnspecifiedMatching +obo:GARD_18260 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies skos:broadMatch Orphanet:103908 semapv:UnspecifiedMatching +obo:GARD_18260 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies skos:exactMatch OMIM:270420 semapv:UnspecifiedMatching +obo:GARD_18261 Diarrhea 8, secretory sodium, congenital skos:broadMatch Orphanet:103908 semapv:UnspecifiedMatching +obo:GARD_18261 Diarrhea 8, secretory sodium, congenital skos:exactMatch OMIM:616868 semapv:UnspecifiedMatching +obo:GARD_18262 Neuronopathy, distal hereditary motor, type iia skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +obo:GARD_18262 Neuronopathy, distal hereditary motor, type iia skos:exactMatch OMIM:158590 semapv:UnspecifiedMatching +obo:GARD_18263 Neuronopathy, distal hereditary motor, type iib skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +obo:GARD_18263 Neuronopathy, distal hereditary motor, type iib skos:exactMatch OMIM:608634 semapv:UnspecifiedMatching +obo:GARD_18264 Neuronopathy, distal hereditary motor, type iic skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +obo:GARD_18264 Neuronopathy, distal hereditary motor, type iic skos:exactMatch OMIM:613376 semapv:UnspecifiedMatching +obo:GARD_18265 Neuronopathy, distal hereditary motor, type iid skos:broadMatch Orphanet:139525 semapv:UnspecifiedMatching +obo:GARD_18265 Neuronopathy, distal hereditary motor, type iid skos:exactMatch OMIM:615575 semapv:UnspecifiedMatching +obo:GARD_18266 Neuronopathy, distal hereditary motor, type va skos:broadMatch Orphanet:139536 semapv:UnspecifiedMatching +obo:GARD_18266 Neuronopathy, distal hereditary motor, type va skos:exactMatch OMIM:600794 semapv:UnspecifiedMatching +obo:GARD_18267 Neuronopathy, distal hereditary motor, type vb skos:broadMatch Orphanet:139536 semapv:UnspecifiedMatching +obo:GARD_18267 Neuronopathy, distal hereditary motor, type vb skos:exactMatch OMIM:614751 semapv:UnspecifiedMatching +obo:GARD_18268 Neuronopathy, distal hereditary motor, type vc skos:broadMatch Orphanet:139536 semapv:UnspecifiedMatching +obo:GARD_18268 Neuronopathy, distal hereditary motor, type vc skos:exactMatch OMIM:619112 semapv:UnspecifiedMatching +obo:GARD_18269 Neuronopathy, distal hereditary motor, type viia skos:broadMatch Orphanet:139589 semapv:UnspecifiedMatching +obo:GARD_18269 Neuronopathy, distal hereditary motor, type viia skos:exactMatch OMIM:158580 semapv:UnspecifiedMatching +obo:GARD_1827 Dextrocardia skos:exactMatch Orphanet:1666 semapv:UnspecifiedMatching +obo:GARD_18270 Neuronopathy, distal hereditary motor, type viib skos:broadMatch Orphanet:139589 semapv:UnspecifiedMatching +obo:GARD_18270 Neuronopathy, distal hereditary motor, type viib skos:exactMatch OMIM:607641 semapv:UnspecifiedMatching +obo:GARD_18271 Macrothrombocytopenia, isolated, 1, autosomal dominant skos:broadMatch Orphanet:140957 semapv:UnspecifiedMatching +obo:GARD_18271 Macrothrombocytopenia, isolated, 1, autosomal dominant skos:exactMatch OMIM:613112 semapv:UnspecifiedMatching +obo:GARD_18272 Bleeding disorder, platelet-type, 15 skos:broadMatch Orphanet:140957 semapv:UnspecifiedMatching +obo:GARD_18272 Bleeding disorder, platelet-type, 15 skos:exactMatch OMIM:615193 semapv:UnspecifiedMatching +obo:GARD_18273 Bleeding disorder, platelet-type, 24 skos:broadMatch Orphanet:140957 semapv:UnspecifiedMatching +obo:GARD_18273 Bleeding disorder, platelet-type, 24 skos:exactMatch OMIM:619271 semapv:UnspecifiedMatching +obo:GARD_18274 Atresia of external auditory canal and conductive deafness skos:broadMatch Orphanet:141074 semapv:UnspecifiedMatching +obo:GARD_18274 Atresia of external auditory canal and conductive deafness skos:exactMatch OMIM:108760 semapv:UnspecifiedMatching +obo:GARD_18275 Aural atresia, congenital skos:broadMatch Orphanet:141074 semapv:UnspecifiedMatching +obo:GARD_18275 Aural atresia, congenital skos:exactMatch OMIM:607842 semapv:UnspecifiedMatching +obo:GARD_18276 Polyposis syndrome, hereditary mixed, 2 skos:broadMatch Orphanet:157794 semapv:UnspecifiedMatching +obo:GARD_18276 Polyposis syndrome, hereditary mixed, 2 skos:exactMatch OMIM:610069 semapv:UnspecifiedMatching +obo:GARD_18277 Crisponi/cold-induced sweating syndrome 2 skos:broadMatch Orphanet:157820 semapv:UnspecifiedMatching +obo:GARD_18277 Crisponi/cold-induced sweating syndrome 2 skos:exactMatch OMIM:610313 semapv:UnspecifiedMatching +obo:GARD_18278 Perching syndrome skos:broadMatch Orphanet:157820 semapv:UnspecifiedMatching +obo:GARD_18278 Perching syndrome skos:exactMatch OMIM:617055 semapv:UnspecifiedMatching +obo:GARD_18279 Epilepsy, familial temporal lobe, 3 skos:broadMatch Orphanet:163717 semapv:UnspecifiedMatching +obo:GARD_18279 Epilepsy, familial temporal lobe, 3 skos:exactMatch OMIM:611630 semapv:UnspecifiedMatching +obo:GARD_18280 Epilepsy, familial temporal lobe, 5 skos:broadMatch Orphanet:163717 semapv:UnspecifiedMatching +obo:GARD_18280 Epilepsy, familial temporal lobe, 5 skos:exactMatch OMIM:614417 semapv:UnspecifiedMatching +obo:GARD_18281 Epilepsy, familial temporal lobe, 6 skos:broadMatch Orphanet:163717 semapv:UnspecifiedMatching +obo:GARD_18281 Epilepsy, familial temporal lobe, 6 skos:exactMatch OMIM:615697 semapv:UnspecifiedMatching +obo:GARD_18282 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked skos:broadMatch Orphanet:163721 semapv:UnspecifiedMatching +obo:GARD_18282 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked skos:exactMatch OMIM:300643 semapv:UnspecifiedMatching +obo:GARD_18283 Febrile seizures, familial, 11 skos:broadMatch Orphanet:165805 semapv:UnspecifiedMatching +obo:GARD_18283 Febrile seizures, familial, 11 skos:exactMatch OMIM:614418 semapv:UnspecifiedMatching +obo:GARD_18284 Sick sinus syndrome 2 skos:broadMatch Orphanet:166282 semapv:UnspecifiedMatching +obo:GARD_18284 Sick sinus syndrome 2 skos:exactMatch OMIM:163800 semapv:UnspecifiedMatching +obo:GARD_18285 Sick sinus syndrome 3, susceptibility to skos:broadMatch Orphanet:166282 semapv:UnspecifiedMatching +obo:GARD_18285 Sick sinus syndrome 3, susceptibility to skos:exactMatch OMIM:614090 semapv:UnspecifiedMatching +obo:GARD_18286 Epilepsy, hot water, 1 skos:broadMatch Orphanet:166412 semapv:UnspecifiedMatching +obo:GARD_18286 Epilepsy, hot water, 1 skos:exactMatch OMIM:613339 semapv:UnspecifiedMatching +obo:GARD_18287 Epilepsy, hot water, 2 skos:broadMatch Orphanet:166412 semapv:UnspecifiedMatching +obo:GARD_18287 Epilepsy, hot water, 2 skos:exactMatch OMIM:613340 semapv:UnspecifiedMatching +obo:GARD_18288 Thrombocytopenia 3 skos:broadMatch Orphanet:168629 semapv:UnspecifiedMatching +obo:GARD_18288 Thrombocytopenia 3 skos:exactMatch OMIM:273900 semapv:UnspecifiedMatching +obo:GARD_18289 Thrombocytopenia 4 skos:broadMatch Orphanet:168629 semapv:UnspecifiedMatching +obo:GARD_18289 Thrombocytopenia 4 skos:exactMatch OMIM:612004 semapv:UnspecifiedMatching +obo:GARD_18290 Complement component 7 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_18290 Complement component 7 deficiency skos:exactMatch OMIM:610102 semapv:UnspecifiedMatching +obo:GARD_18291 Complement component 6 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_18291 Complement component 6 deficiency skos:exactMatch OMIM:612446 semapv:UnspecifiedMatching +obo:GARD_18292 Complement component 9 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_18292 Complement component 9 deficiency skos:exactMatch OMIM:613825 semapv:UnspecifiedMatching +obo:GARD_18293 Immunodeficiency 104 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +obo:GARD_18293 Immunodeficiency 104 skos:exactMatch OMIM:608971 semapv:UnspecifiedMatching +obo:GARD_18294 Immunodeficiency 25 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +obo:GARD_18294 Immunodeficiency 25 skos:exactMatch OMIM:610163 semapv:UnspecifiedMatching +obo:GARD_18295 Immunodeficiency 18 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +obo:GARD_18295 Immunodeficiency 18 skos:exactMatch OMIM:615615 semapv:UnspecifiedMatching +obo:GARD_18296 Immunodeficiency 19 skos:broadMatch Orphanet:169160 semapv:UnspecifiedMatching +obo:GARD_18296 Immunodeficiency 19 skos:exactMatch OMIM:615617 semapv:UnspecifiedMatching +obo:GARD_18297 Rajab interstitial lung disease with brain calcifications 1 skos:broadMatch Orphanet:178506 semapv:UnspecifiedMatching +obo:GARD_18297 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch OMIM:613658 semapv:UnspecifiedMatching +obo:GARD_18298 Rajab interstitial lung disease with brain calcifications 2 skos:broadMatch Orphanet:178506 semapv:UnspecifiedMatching +obo:GARD_18298 Rajab interstitial lung disease with brain calcifications 2 skos:exactMatch OMIM:619013 semapv:UnspecifiedMatching +obo:GARD_18299 Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:broadMatch Orphanet:183707 semapv:UnspecifiedMatching +obo:GARD_18299 Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch OMIM:608203 semapv:UnspecifiedMatching +obo:GARD_18300 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:broadMatch Orphanet:183707 semapv:UnspecifiedMatching +obo:GARD_18300 Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch OMIM:618987 semapv:UnspecifiedMatching +obo:GARD_18301 Hypercarotenemia and vitamin a deficiency, autosomal dominant skos:broadMatch Orphanet:199285 semapv:UnspecifiedMatching +obo:GARD_18301 Hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch OMIM:115300 semapv:UnspecifiedMatching +obo:GARD_18302 Hypercarotenemia and vitamin a deficiency, autosomal recessive skos:broadMatch Orphanet:199285 semapv:UnspecifiedMatching +obo:GARD_18302 Hypercarotenemia and vitamin a deficiency, autosomal recessive skos:exactMatch OMIM:277350 semapv:UnspecifiedMatching +obo:GARD_18303 Orofacial cleft 11 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_18303 Orofacial cleft 11 skos:exactMatch OMIM:600625 semapv:UnspecifiedMatching +obo:GARD_18304 Orofacial cleft 6, susceptibility to skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_18304 Orofacial cleft 6, susceptibility to skos:exactMatch OMIM:608864 semapv:UnspecifiedMatching +obo:GARD_18305 Orofacial cleft 5 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_18305 Orofacial cleft 5 skos:exactMatch OMIM:608874 semapv:UnspecifiedMatching +obo:GARD_18306 Orofacial cleft 10 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_18306 Orofacial cleft 10 skos:exactMatch OMIM:613705 semapv:UnspecifiedMatching +obo:GARD_18307 Orofacial cleft 15 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_18307 Orofacial cleft 15 skos:exactMatch OMIM:616788 semapv:UnspecifiedMatching +obo:GARD_18308 Orofacial cleft 8 skos:broadMatch Orphanet:199306 semapv:UnspecifiedMatching +obo:GARD_18308 Orofacial cleft 8 skos:exactMatch OMIM:618149 semapv:UnspecifiedMatching +obo:GARD_18309 Cerebral palsy, spastic quadriplegic, 2 skos:broadMatch Orphanet:210141 semapv:UnspecifiedMatching +obo:GARD_18309 Cerebral palsy, spastic quadriplegic, 2 skos:exactMatch OMIM:612900 semapv:UnspecifiedMatching +obo:GARD_18310 Cerebral palsy, spastic quadriplegic, 3 skos:broadMatch Orphanet:210141 semapv:UnspecifiedMatching +obo:GARD_18310 Cerebral palsy, spastic quadriplegic, 3 skos:exactMatch OMIM:617008 semapv:UnspecifiedMatching +obo:GARD_18311 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:broadMatch Orphanet:220465 semapv:UnspecifiedMatching +obo:GARD_18311 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch OMIM:245590 semapv:UnspecifiedMatching +obo:GARD_18312 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:broadMatch Orphanet:220465 semapv:UnspecifiedMatching +obo:GARD_18312 Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch OMIM:618985 semapv:UnspecifiedMatching +obo:GARD_18313 Cerebral cavernous malformations 2 skos:broadMatch Orphanet:221061 semapv:UnspecifiedMatching +obo:GARD_18313 Cerebral cavernous malformations 2 skos:exactMatch OMIM:603284 semapv:UnspecifiedMatching +obo:GARD_18314 Cerebral cavernous malformations 3 skos:broadMatch Orphanet:221061 semapv:UnspecifiedMatching +obo:GARD_18314 Cerebral cavernous malformations 3 skos:exactMatch OMIM:603285 semapv:UnspecifiedMatching +obo:GARD_18315 Striatonigral degeneration, infantile, mitochondrial skos:broadMatch Orphanet:225154 semapv:UnspecifiedMatching +obo:GARD_18315 Striatonigral degeneration, infantile, mitochondrial skos:exactMatch OMIM:500003 semapv:UnspecifiedMatching +obo:GARD_18316 Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:broadMatch Orphanet:230857 semapv:UnspecifiedMatching +obo:GARD_18316 Combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch OMIM:619115 semapv:UnspecifiedMatching +obo:GARD_18317 Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:broadMatch Orphanet:230857 semapv:UnspecifiedMatching +obo:GARD_18317 Combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:exactMatch OMIM:619120 semapv:UnspecifiedMatching +obo:GARD_18318 Rhabdoid tumor predisposition syndrome 1 skos:broadMatch Orphanet:231108 semapv:UnspecifiedMatching +obo:GARD_18318 Rhabdoid tumor predisposition syndrome 1 skos:exactMatch OMIM:609322 semapv:UnspecifiedMatching +obo:GARD_18319 Rhabdoid tumor predisposition syndrome 2 skos:broadMatch Orphanet:231108 semapv:UnspecifiedMatching +obo:GARD_18319 Rhabdoid tumor predisposition syndrome 2 skos:exactMatch OMIM:613325 semapv:UnspecifiedMatching +obo:GARD_18320 Aneurysm, intracranial berry, 1 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18320 Aneurysm, intracranial berry, 1 skos:exactMatch OMIM:105800 semapv:UnspecifiedMatching +obo:GARD_18321 Aneurysm, intracranial berry, 5 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18321 Aneurysm, intracranial berry, 5 skos:exactMatch OMIM:300870 semapv:UnspecifiedMatching +obo:GARD_18322 Aneurysm, intracranial berry, 3 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18322 Aneurysm, intracranial berry, 3 skos:exactMatch OMIM:609122 semapv:UnspecifiedMatching +obo:GARD_18323 Aneurysm, intracranial berry, 4 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18323 Aneurysm, intracranial berry, 4 skos:exactMatch OMIM:610213 semapv:UnspecifiedMatching +obo:GARD_18324 Aneurysm, intracranial berry, 6 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18324 Aneurysm, intracranial berry, 6 skos:exactMatch OMIM:611892 semapv:UnspecifiedMatching +obo:GARD_18325 Aneurysm, intracranial berry, 7 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18325 Aneurysm, intracranial berry, 7 skos:exactMatch OMIM:612161 semapv:UnspecifiedMatching +obo:GARD_18326 Aneurysm, intracranial berry, 8 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18326 Aneurysm, intracranial berry, 8 skos:exactMatch OMIM:612162 semapv:UnspecifiedMatching +obo:GARD_18327 Aneurysm, intracranial berry, 9 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18327 Aneurysm, intracranial berry, 9 skos:exactMatch OMIM:612586 semapv:UnspecifiedMatching +obo:GARD_18328 Aneurysm, intracranial berry, 10 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18328 Aneurysm, intracranial berry, 10 skos:exactMatch OMIM:612587 semapv:UnspecifiedMatching +obo:GARD_18329 Aneurysm, intracranial berry, 11 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18329 Aneurysm, intracranial berry, 11 skos:exactMatch OMIM:614252 semapv:UnspecifiedMatching +obo:GARD_18330 Aneurysm, intracranial berry, 12 skos:broadMatch Orphanet:231160 semapv:UnspecifiedMatching +obo:GARD_18330 Aneurysm, intracranial berry, 12 skos:exactMatch OMIM:618734 semapv:UnspecifiedMatching +obo:GARD_18331 Hermansky-pudlak syndrome 1 skos:broadMatch Orphanet:231500 semapv:UnspecifiedMatching +obo:GARD_18331 Hermansky-pudlak syndrome 1 skos:exactMatch OMIM:203300 semapv:UnspecifiedMatching +obo:GARD_18332 Hermansky-pudlak syndrome 4 skos:broadMatch Orphanet:231500 semapv:UnspecifiedMatching +obo:GARD_18332 Hermansky-pudlak syndrome 4 skos:exactMatch OMIM:614073 semapv:UnspecifiedMatching +obo:GARD_18333 Hermansky-pudlak syndrome 3 skos:broadMatch Orphanet:231512 semapv:UnspecifiedMatching +obo:GARD_18333 Hermansky-pudlak syndrome 3 skos:exactMatch OMIM:614072 semapv:UnspecifiedMatching +obo:GARD_18334 Hermansky-pudlak syndrome 5 skos:broadMatch Orphanet:231512 semapv:UnspecifiedMatching +obo:GARD_18334 Hermansky-pudlak syndrome 5 skos:exactMatch OMIM:614074 semapv:UnspecifiedMatching +obo:GARD_18335 Hermansky-pudlak syndrome 6 skos:broadMatch Orphanet:231512 semapv:UnspecifiedMatching +obo:GARD_18335 Hermansky-pudlak syndrome 6 skos:exactMatch OMIM:614075 semapv:UnspecifiedMatching +obo:GARD_18336 Hermansky-pudlak syndrome 7 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +obo:GARD_18336 Hermansky-pudlak syndrome 7 skos:exactMatch OMIM:614076 semapv:UnspecifiedMatching +obo:GARD_18337 Hermansky-pudlak syndrome 8 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +obo:GARD_18337 Hermansky-pudlak syndrome 8 skos:exactMatch OMIM:614077 semapv:UnspecifiedMatching +obo:GARD_18338 Hermansky-pudlak syndrome 9 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +obo:GARD_18338 Hermansky-pudlak syndrome 9 skos:exactMatch OMIM:614171 semapv:UnspecifiedMatching +obo:GARD_18339 Hermansky-pudlak syndrome 11 skos:broadMatch Orphanet:231531 semapv:UnspecifiedMatching +obo:GARD_18339 Hermansky-pudlak syndrome 11 skos:exactMatch OMIM:619172 semapv:UnspecifiedMatching +obo:GARD_18340 Hypercholanemia, familial 1 skos:broadMatch Orphanet:238475 semapv:UnspecifiedMatching +obo:GARD_18340 Hypercholanemia, familial 1 skos:exactMatch OMIM:607748 semapv:UnspecifiedMatching +obo:GARD_18341 Hypercholanemia, familial, 2 skos:broadMatch Orphanet:238475 semapv:UnspecifiedMatching +obo:GARD_18341 Hypercholanemia, familial, 2 skos:exactMatch OMIM:619256 semapv:UnspecifiedMatching +obo:GARD_18342 Inflammatory bowel disease 25, autosomal recessive skos:broadMatch Orphanet:238569 semapv:UnspecifiedMatching +obo:GARD_18342 Inflammatory bowel disease 25, autosomal recessive skos:exactMatch OMIM:612567 semapv:UnspecifiedMatching +obo:GARD_18343 Inflammatory bowel disease 28, autosomal recessive skos:broadMatch Orphanet:238569 semapv:UnspecifiedMatching +obo:GARD_18343 Inflammatory bowel disease 28, autosomal recessive skos:exactMatch OMIM:613148 semapv:UnspecifiedMatching +obo:GARD_18344 Supranuclear palsy, progressive, 2 skos:broadMatch Orphanet:240071 semapv:UnspecifiedMatching +obo:GARD_18344 Supranuclear palsy, progressive, 2 skos:exactMatch OMIM:609454 semapv:UnspecifiedMatching +obo:GARD_18345 Supranuclear palsy, progressive, 3 skos:broadMatch Orphanet:240071 semapv:UnspecifiedMatching +obo:GARD_18345 Supranuclear palsy, progressive, 3 skos:exactMatch OMIM:610898 semapv:UnspecifiedMatching +obo:GARD_18346 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 skos:broadMatch Orphanet:244305 semapv:UnspecifiedMatching +obo:GARD_18346 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 skos:exactMatch OMIM:612286 semapv:UnspecifiedMatching +obo:GARD_18347 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 skos:broadMatch Orphanet:244305 semapv:UnspecifiedMatching +obo:GARD_18347 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 skos:exactMatch OMIM:612287 semapv:UnspecifiedMatching +obo:GARD_18348 Pontocerebellar hypoplasia, type 2e skos:broadMatch Orphanet:247198 semapv:UnspecifiedMatching +obo:GARD_18348 Pontocerebellar hypoplasia, type 2e skos:exactMatch OMIM:615851 semapv:UnspecifiedMatching +obo:GARD_18349 Hyperphosphatasia with mental retardation syndrome 1 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_18349 Hyperphosphatasia with mental retardation syndrome 1 skos:exactMatch OMIM:239300 semapv:UnspecifiedMatching +obo:GARD_18350 Hyperphosphatasia with mental retardation syndrome 3 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_18350 Hyperphosphatasia with mental retardation syndrome 3 skos:exactMatch OMIM:614207 semapv:UnspecifiedMatching +obo:GARD_18351 Hyperphosphatasia with mental retardation syndrome 2 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_18351 Hyperphosphatasia with mental retardation syndrome 2 skos:exactMatch OMIM:614749 semapv:UnspecifiedMatching +obo:GARD_18352 Hyperphosphatasia with mental retardation syndrome 4 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_18352 Hyperphosphatasia with mental retardation syndrome 4 skos:exactMatch OMIM:615716 semapv:UnspecifiedMatching +obo:GARD_18353 Glycosylphosphatidylinositol biosynthesis defect 11 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_18353 Glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch OMIM:616025 semapv:UnspecifiedMatching +obo:GARD_18354 Hyperphosphatasia with mental retardation syndrome 6 skos:broadMatch Orphanet:247262 semapv:UnspecifiedMatching +obo:GARD_18354 Hyperphosphatasia with mental retardation syndrome 6 skos:exactMatch OMIM:616809 semapv:UnspecifiedMatching +obo:GARD_18355 Erythrocytosis, familial, 3 skos:broadMatch Orphanet:247511 semapv:UnspecifiedMatching +obo:GARD_18355 Erythrocytosis, familial, 3 skos:exactMatch OMIM:609820 semapv:UnspecifiedMatching +obo:GARD_18356 Erythrocytosis, familial, 4 skos:broadMatch Orphanet:247511 semapv:UnspecifiedMatching +obo:GARD_18356 Erythrocytosis, familial, 4 skos:exactMatch OMIM:611783 semapv:UnspecifiedMatching +obo:GARD_18357 Fibromatosis, gingival, 5 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +obo:GARD_18357 Fibromatosis, gingival, 5 skos:exactMatch OMIM:617626 semapv:UnspecifiedMatching +obo:GARD_18358 Stickler syndrome, type iv skos:broadMatch Orphanet:250984 semapv:UnspecifiedMatching +obo:GARD_18358 Stickler syndrome, type iv skos:exactMatch OMIM:614134 semapv:UnspecifiedMatching +obo:GARD_18359 Stickler syndrome, type v skos:broadMatch Orphanet:250984 semapv:UnspecifiedMatching +obo:GARD_18359 Stickler syndrome, type v skos:exactMatch OMIM:614284 semapv:UnspecifiedMatching +obo:GARD_18360 Testicular anomalies with or without congenital heart disease skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_18360 Testicular anomalies with or without congenital heart disease skos:exactMatch OMIM:615542 semapv:UnspecifiedMatching +obo:GARD_18361 46,xy sex reversal 9 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_18361 46,xy sex reversal 9 skos:exactMatch OMIM:616067 semapv:UnspecifiedMatching +obo:GARD_18362 Mismatch repair cancer syndrome 2 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +obo:GARD_18362 Mismatch repair cancer syndrome 2 skos:exactMatch OMIM:619096 semapv:UnspecifiedMatching +obo:GARD_18363 Mismatch repair cancer syndrome 3 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +obo:GARD_18363 Mismatch repair cancer syndrome 3 skos:exactMatch OMIM:619097 semapv:UnspecifiedMatching +obo:GARD_18364 Mismatch repair cancer syndrome 4 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +obo:GARD_18364 Mismatch repair cancer syndrome 4 skos:exactMatch OMIM:619101 semapv:UnspecifiedMatching +obo:GARD_18365 Hydatidiform mole, recurrent, 1 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +obo:GARD_18365 Hydatidiform mole, recurrent, 1 skos:exactMatch OMIM:231090 semapv:UnspecifiedMatching +obo:GARD_18366 Hydatidiform mole, recurrent, 2 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +obo:GARD_18366 Hydatidiform mole, recurrent, 2 skos:exactMatch OMIM:614293 semapv:UnspecifiedMatching +obo:GARD_18367 Hydatidiform mole, recurrent, 3 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +obo:GARD_18367 Hydatidiform mole, recurrent, 3 skos:exactMatch OMIM:618431 semapv:UnspecifiedMatching +obo:GARD_18368 Hydatidiform mole, recurrent, 4 skos:broadMatch Orphanet:254688 semapv:UnspecifiedMatching +obo:GARD_18368 Hydatidiform mole, recurrent, 4 skos:exactMatch OMIM:618432 semapv:UnspecifiedMatching +obo:GARD_18369 Mitochondrial dna depletion syndrome 2 (myopathic type) skos:broadMatch Orphanet:254875 semapv:UnspecifiedMatching +obo:GARD_18369 Mitochondrial dna depletion syndrome 2 (myopathic type) skos:exactMatch OMIM:609560 semapv:UnspecifiedMatching +obo:GARD_18370 Mitochondrial dna depletion syndrome 19 skos:broadMatch Orphanet:254875 semapv:UnspecifiedMatching +obo:GARD_18370 Mitochondrial dna depletion syndrome 19 skos:exactMatch OMIM:618972 semapv:UnspecifiedMatching +obo:GARD_18371 Mitochondrial complex i deficiency, nuclear type 13 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18371 Mitochondrial complex i deficiency, nuclear type 13 skos:exactMatch OMIM:618235 semapv:UnspecifiedMatching +obo:GARD_18372 Mitochondrial complex i deficiency, nuclear type 17 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18372 Mitochondrial complex i deficiency, nuclear type 17 skos:exactMatch OMIM:618239 semapv:UnspecifiedMatching +obo:GARD_18373 Mitochondrial complex i deficiency, nuclear type 22 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18373 Mitochondrial complex i deficiency, nuclear type 22 skos:exactMatch OMIM:618243 semapv:UnspecifiedMatching +obo:GARD_18374 Mitochondrial complex i deficiency, nuclear type 23 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18374 Mitochondrial complex i deficiency, nuclear type 23 skos:exactMatch OMIM:618244 semapv:UnspecifiedMatching +obo:GARD_18375 Mitochondrial complex i deficiency, nuclear type 27 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18375 Mitochondrial complex i deficiency, nuclear type 27 skos:exactMatch OMIM:618248 semapv:UnspecifiedMatching +obo:GARD_18376 Mitochondrial complex i deficiency, nuclear type 28 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18376 Mitochondrial complex i deficiency, nuclear type 28 skos:exactMatch OMIM:618249 semapv:UnspecifiedMatching +obo:GARD_18377 Deafness, autosomal recessive 112 skos:broadMatch Orphanet:255241 semapv:UnspecifiedMatching +obo:GARD_18377 Deafness, autosomal recessive 112 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_18377 Deafness, autosomal recessive 112 skos:exactMatch OMIM:618257 semapv:UnspecifiedMatching +obo:GARD_18378 Coenzyme q10 deficiency, primary, 1 skos:broadMatch Orphanet:255249 semapv:UnspecifiedMatching +obo:GARD_18378 Coenzyme q10 deficiency, primary, 1 skos:exactMatch OMIM:607426 semapv:UnspecifiedMatching +obo:GARD_18379 Coenzyme q10 deficiency, primary, 3 skos:broadMatch Orphanet:255249 semapv:UnspecifiedMatching +obo:GARD_18379 Coenzyme q10 deficiency, primary, 3 skos:exactMatch OMIM:614652 semapv:UnspecifiedMatching +obo:GARD_18380 Anemia, sideroblastic, 4 skos:broadMatch Orphanet:260305 semapv:UnspecifiedMatching +obo:GARD_18380 Anemia, sideroblastic, 4 skos:exactMatch OMIM:182170 semapv:UnspecifiedMatching +obo:GARD_18381 Anemia, sideroblastic, 2, pyridoxine-refractory skos:broadMatch Orphanet:260305 semapv:UnspecifiedMatching +obo:GARD_18381 Anemia, sideroblastic, 2, pyridoxine-refractory skos:exactMatch OMIM:205950 semapv:UnspecifiedMatching +obo:GARD_18382 Kleefstra syndrome 2 skos:broadMatch Orphanet:261652 semapv:UnspecifiedMatching +obo:GARD_18382 Kleefstra syndrome 2 skos:exactMatch OMIM:617768 semapv:UnspecifiedMatching +obo:GARD_18383 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:broadMatch Orphanet:263347 semapv:UnspecifiedMatching +obo:GARD_18383 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch OMIM:619082 semapv:UnspecifiedMatching +obo:GARD_18384 Encephalopathy, acute, infection-induced, susceptibility to, 4 skos:broadMatch Orphanet:263524 semapv:UnspecifiedMatching +obo:GARD_18384 Encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch OMIM:614212 semapv:UnspecifiedMatching +obo:GARD_18385 Meningioma, familial, susceptibility to skos:broadMatch Orphanet:263662 semapv:UnspecifiedMatching +obo:GARD_18385 Meningioma, familial, susceptibility to skos:exactMatch OMIM:607174 semapv:UnspecifiedMatching +obo:GARD_18386 Glycogen storage disease ixa1 skos:broadMatch Orphanet:264580 semapv:UnspecifiedMatching +obo:GARD_18386 Glycogen storage disease ixa1 skos:exactMatch OMIM:306000 semapv:UnspecifiedMatching +obo:GARD_18387 Glycogen storage disease ixc skos:broadMatch Orphanet:264580 semapv:UnspecifiedMatching +obo:GARD_18387 Glycogen storage disease ixc skos:exactMatch OMIM:613027 semapv:UnspecifiedMatching +obo:GARD_18388 Maple syrup urine disease, mild variant skos:broadMatch Orphanet:268162 semapv:UnspecifiedMatching +obo:GARD_18388 Maple syrup urine disease, mild variant skos:exactMatch OMIM:615135 semapv:UnspecifiedMatching +obo:GARD_18389 Preeclampsia/eclampsia 1 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +obo:GARD_18389 Preeclampsia/eclampsia 1 skos:exactMatch OMIM:189800 semapv:UnspecifiedMatching +obo:GARD_1839 Transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching +obo:GARD_1839 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:601410 semapv:UnspecifiedMatching +obo:GARD_1839 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:610374 semapv:UnspecifiedMatching +obo:GARD_1839 Transient neonatal diabetes mellitus skos:narrowMatch OMIM:610582 semapv:UnspecifiedMatching +obo:GARD_18390 Preeclampsia/eclampsia 2 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +obo:GARD_18390 Preeclampsia/eclampsia 2 skos:exactMatch OMIM:609402 semapv:UnspecifiedMatching +obo:GARD_18391 Preeclampsia/eclampsia 3 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +obo:GARD_18391 Preeclampsia/eclampsia 3 skos:exactMatch OMIM:609403 semapv:UnspecifiedMatching +obo:GARD_18392 Preeclampsia/eclampsia 4 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +obo:GARD_18392 Preeclampsia/eclampsia 4 skos:exactMatch OMIM:609404 semapv:UnspecifiedMatching +obo:GARD_18393 Preeclampsia/eclampsia 5 skos:broadMatch Orphanet:275555 semapv:UnspecifiedMatching +obo:GARD_18393 Preeclampsia/eclampsia 5 skos:exactMatch OMIM:614595 semapv:UnspecifiedMatching +obo:GARD_18394 Pulmonary hypertension, primary, 2 skos:broadMatch Orphanet:275777 semapv:UnspecifiedMatching +obo:GARD_18394 Pulmonary hypertension, primary, 2 skos:exactMatch OMIM:615342 semapv:UnspecifiedMatching +obo:GARD_18395 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:broadMatch Orphanet:275864 semapv:UnspecifiedMatching +obo:GARD_18395 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:exactMatch OMIM:619132 semapv:UnspecifiedMatching +obo:GARD_18396 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_18396 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch OMIM:105550 semapv:UnspecifiedMatching +obo:GARD_18397 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_18397 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch OMIM:615911 semapv:UnspecifiedMatching +obo:GARD_18398 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_18398 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch OMIM:616439 semapv:UnspecifiedMatching +obo:GARD_18399 Spermatogenic failure 3 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18399 Spermatogenic failure 3 skos:exactMatch OMIM:606766 semapv:UnspecifiedMatching +obo:GARD_184 Yellow nail syndrome skos:exactMatch Orphanet:662 semapv:UnspecifiedMatching +obo:GARD_184 Yellow nail syndrome skos:narrowMatch OMIM:153300 semapv:UnspecifiedMatching +obo:GARD_18400 Spermatogenic failure 7 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18400 Spermatogenic failure 7 skos:exactMatch OMIM:612997 semapv:UnspecifiedMatching +obo:GARD_18401 Spermatogenic failure 10 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18401 Spermatogenic failure 10 skos:exactMatch OMIM:614822 semapv:UnspecifiedMatching +obo:GARD_18402 Spermatogenic failure 18 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18402 Spermatogenic failure 18 skos:exactMatch OMIM:617576 semapv:UnspecifiedMatching +obo:GARD_18403 Spermatogenic failure 19 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18403 Spermatogenic failure 19 skos:exactMatch OMIM:617592 semapv:UnspecifiedMatching +obo:GARD_18404 Spermatogenic failure 20 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18404 Spermatogenic failure 20 skos:exactMatch OMIM:617593 semapv:UnspecifiedMatching +obo:GARD_18405 Spermatogenic failure 27 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18405 Spermatogenic failure 27 skos:exactMatch OMIM:617965 semapv:UnspecifiedMatching +obo:GARD_18406 Spermatogenic failure 33 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18406 Spermatogenic failure 33 skos:exactMatch OMIM:618152 semapv:UnspecifiedMatching +obo:GARD_18407 Spermatogenic failure 34 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18407 Spermatogenic failure 34 skos:exactMatch OMIM:618153 semapv:UnspecifiedMatching +obo:GARD_18408 Spermatogenic failure 37 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18408 Spermatogenic failure 37 skos:exactMatch OMIM:618429 semapv:UnspecifiedMatching +obo:GARD_18409 Spermatogenic failure 38 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18409 Spermatogenic failure 38 skos:exactMatch OMIM:618433 semapv:UnspecifiedMatching +obo:GARD_18410 Spermatogenic failure 39 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18410 Spermatogenic failure 39 skos:exactMatch OMIM:618643 semapv:UnspecifiedMatching +obo:GARD_18411 Spermatogenic failure 40 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18411 Spermatogenic failure 40 skos:exactMatch OMIM:618664 semapv:UnspecifiedMatching +obo:GARD_18412 Spermatogenic failure 41 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18412 Spermatogenic failure 41 skos:exactMatch OMIM:618670 semapv:UnspecifiedMatching +obo:GARD_18413 Spermatogenic failure 42 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18413 Spermatogenic failure 42 skos:exactMatch OMIM:618745 semapv:UnspecifiedMatching +obo:GARD_18414 Spermatogenic failure 43 skos:broadMatch Orphanet:276234 semapv:UnspecifiedMatching +obo:GARD_18414 Spermatogenic failure 43 skos:exactMatch OMIM:618751 semapv:UnspecifiedMatching +obo:GARD_18415 Vitamin d hydroxylation-deficient rickets, type 1b skos:broadMatch Orphanet:289157 semapv:UnspecifiedMatching +obo:GARD_18415 Vitamin d hydroxylation-deficient rickets, type 1b skos:exactMatch OMIM:600081 semapv:UnspecifiedMatching +obo:GARD_18416 Hypophosphatemic rickets, autosomal recessive, 1 skos:broadMatch Orphanet:289176 semapv:UnspecifiedMatching +obo:GARD_18416 Hypophosphatemic rickets, autosomal recessive, 1 skos:exactMatch OMIM:241520 semapv:UnspecifiedMatching +obo:GARD_18417 Hypophosphatemic rickets, autosomal recessive, 2 skos:broadMatch Orphanet:289176 semapv:UnspecifiedMatching +obo:GARD_18417 Hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 semapv:UnspecifiedMatching +obo:GARD_18418 Vesicoureteral reflux 1 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18418 Vesicoureteral reflux 1 skos:exactMatch OMIM:193000 semapv:UnspecifiedMatching +obo:GARD_18419 Vesicoureteral reflux 2 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18419 Vesicoureteral reflux 2 skos:exactMatch OMIM:610878 semapv:UnspecifiedMatching +obo:GARD_18420 Vesicoureteral reflux 3 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18420 Vesicoureteral reflux 3 skos:exactMatch OMIM:613674 semapv:UnspecifiedMatching +obo:GARD_18421 Vesicoureteral reflux 4 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18421 Vesicoureteral reflux 4 skos:exactMatch OMIM:614317 semapv:UnspecifiedMatching +obo:GARD_18422 Vesicoureteral reflux 5 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18422 Vesicoureteral reflux 5 skos:exactMatch OMIM:614318 semapv:UnspecifiedMatching +obo:GARD_18423 Vesicoureteral reflux 6 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18423 Vesicoureteral reflux 6 skos:exactMatch OMIM:614319 semapv:UnspecifiedMatching +obo:GARD_18424 Vesicoureteral reflux 7 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18424 Vesicoureteral reflux 7 skos:exactMatch OMIM:615390 semapv:UnspecifiedMatching +obo:GARD_18425 Vesicoureteral reflux 8 skos:broadMatch Orphanet:289365 semapv:UnspecifiedMatching +obo:GARD_18425 Vesicoureteral reflux 8 skos:exactMatch OMIM:615963 semapv:UnspecifiedMatching +obo:GARD_18426 Peeling skin syndrome 4 skos:broadMatch Orphanet:289586 semapv:UnspecifiedMatching +obo:GARD_18426 Peeling skin syndrome 4 skos:exactMatch OMIM:607936 semapv:UnspecifiedMatching +obo:GARD_18427 Peeling skin syndrome 5 skos:broadMatch Orphanet:289586 semapv:UnspecifiedMatching +obo:GARD_18427 Peeling skin syndrome 5 skos:exactMatch OMIM:617115 semapv:UnspecifiedMatching +obo:GARD_18428 3mc syndrome 2 skos:broadMatch Orphanet:293843 semapv:UnspecifiedMatching +obo:GARD_18428 3mc syndrome 2 skos:exactMatch OMIM:265050 semapv:UnspecifiedMatching +obo:GARD_18429 Inflammatory skin and bowel disease, neonatal, 1 skos:broadMatch Orphanet:294023 semapv:UnspecifiedMatching +obo:GARD_18429 Inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch OMIM:614328 semapv:UnspecifiedMatching +obo:GARD_18430 Inflammatory skin and bowel disease, neonatal, 2 skos:broadMatch Orphanet:294023 semapv:UnspecifiedMatching +obo:GARD_18430 Inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch OMIM:616069 semapv:UnspecifiedMatching +obo:GARD_18431 Renal-hepatic-pancreatic dysplasia 1 skos:broadMatch Orphanet:294415 semapv:UnspecifiedMatching +obo:GARD_18431 Renal-hepatic-pancreatic dysplasia 1 skos:exactMatch OMIM:208540 semapv:UnspecifiedMatching +obo:GARD_18432 Renal-hepatic-pancreatic dysplasia 2 skos:broadMatch Orphanet:294415 semapv:UnspecifiedMatching +obo:GARD_18432 Renal-hepatic-pancreatic dysplasia 2 skos:exactMatch OMIM:615415 semapv:UnspecifiedMatching +obo:GARD_18433 Chromosome xq26.3 duplication syndrome skos:broadMatch Orphanet:300373 semapv:UnspecifiedMatching +obo:GARD_18433 Chromosome xq26.3 duplication syndrome skos:exactMatch OMIM:300942 semapv:UnspecifiedMatching +obo:GARD_18434 Hypercalcemia, infantile, 1 skos:broadMatch Orphanet:300547 semapv:UnspecifiedMatching +obo:GARD_18434 Hypercalcemia, infantile, 1 skos:exactMatch OMIM:143880 semapv:UnspecifiedMatching +obo:GARD_18435 Hypercalcemia, infantile, 2 skos:broadMatch Orphanet:300547 semapv:UnspecifiedMatching +obo:GARD_18435 Hypercalcemia, infantile, 2 skos:exactMatch OMIM:616963 semapv:UnspecifiedMatching +obo:GARD_18436 Facial paresis, hereditary congenital, 2 skos:broadMatch Orphanet:306530 semapv:UnspecifiedMatching +obo:GARD_18436 Facial paresis, hereditary congenital, 2 skos:exactMatch OMIM:604185 semapv:UnspecifiedMatching +obo:GARD_18437 Facial paresis, hereditary congenital, 3 skos:broadMatch Orphanet:306530 semapv:UnspecifiedMatching +obo:GARD_18437 Facial paresis, hereditary congenital, 3 skos:exactMatch OMIM:614744 semapv:UnspecifiedMatching +obo:GARD_18438 Microcephaly, epilepsy, and diabetes syndrome 1 skos:broadMatch Orphanet:306558 semapv:UnspecifiedMatching +obo:GARD_18438 Microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch OMIM:614231 semapv:UnspecifiedMatching +obo:GARD_18439 Microcephaly, epilepsy, and diabetes syndrome 2 skos:broadMatch Orphanet:306558 semapv:UnspecifiedMatching +obo:GARD_18439 Microcephaly, epilepsy, and diabetes syndrome 2 skos:exactMatch OMIM:619278 semapv:UnspecifiedMatching +obo:GARD_18440 Episodic pain syndrome, familial, 2 skos:broadMatch Orphanet:306577 semapv:UnspecifiedMatching +obo:GARD_18440 Episodic pain syndrome, familial, 2 skos:exactMatch OMIM:615551 semapv:UnspecifiedMatching +obo:GARD_18441 Cerebroretinal microangiopathy with calcifications and cysts 1 skos:broadMatch Orphanet:313838 semapv:UnspecifiedMatching +obo:GARD_18441 Cerebroretinal microangiopathy with calcifications and cysts 1 skos:exactMatch OMIM:612199 semapv:UnspecifiedMatching +obo:GARD_18442 Cerebroretinal microangiopathy with calcifications and cysts 2 skos:broadMatch Orphanet:313838 semapv:UnspecifiedMatching +obo:GARD_18442 Cerebroretinal microangiopathy with calcifications and cysts 2 skos:exactMatch OMIM:617341 semapv:UnspecifiedMatching +obo:GARD_18443 Spinal muscular atrophy, distal, autosomal recessive, 5 skos:broadMatch Orphanet:314485 semapv:UnspecifiedMatching +obo:GARD_18443 Spinal muscular atrophy, distal, autosomal recessive, 5 skos:exactMatch OMIM:614881 semapv:UnspecifiedMatching +obo:GARD_18444 Neuropathy, hereditary motor, with myopathic features skos:broadMatch Orphanet:314485 semapv:UnspecifiedMatching +obo:GARD_18444 Neuropathy, hereditary motor, with myopathic features skos:exactMatch OMIM:619216 semapv:UnspecifiedMatching +obo:GARD_18445 Renal cell carcinoma, xp11-associated skos:broadMatch Orphanet:319308 semapv:UnspecifiedMatching +obo:GARD_18445 Renal cell carcinoma, xp11-associated skos:exactMatch OMIM:300854 semapv:UnspecifiedMatching +obo:GARD_18446 Proteasome-associated autoinflammatory syndrome 3 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +obo:GARD_18446 Proteasome-associated autoinflammatory syndrome 3 skos:exactMatch OMIM:617591 semapv:UnspecifiedMatching +obo:GARD_18447 Proteasome-associated autoinflammatory syndrome 2 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +obo:GARD_18447 Proteasome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 semapv:UnspecifiedMatching +obo:GARD_18448 Proteasome-associated autoinflammatory syndrome 5 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +obo:GARD_18448 Proteasome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 semapv:UnspecifiedMatching +obo:GARD_18449 Proteasome-associated autoinflammatory syndrome 4 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +obo:GARD_18449 Proteasome-associated autoinflammatory syndrome 4 skos:exactMatch OMIM:619183 semapv:UnspecifiedMatching +obo:GARD_18450 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 skos:broadMatch Orphanet:329336 semapv:UnspecifiedMatching +obo:GARD_18450 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 skos:exactMatch OMIM:616479 semapv:UnspecifiedMatching +obo:GARD_18451 Myasthenic syndrome, congenital, 12 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +obo:GARD_18451 Myasthenic syndrome, congenital, 12 skos:exactMatch OMIM:610542 semapv:UnspecifiedMatching +obo:GARD_18452 Myasthenic syndrome, congenital, 13 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +obo:GARD_18452 Myasthenic syndrome, congenital, 13 skos:exactMatch OMIM:614750 semapv:UnspecifiedMatching +obo:GARD_18453 Myasthenic syndrome, congenital, 15 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +obo:GARD_18453 Myasthenic syndrome, congenital, 15 skos:exactMatch OMIM:616227 semapv:UnspecifiedMatching +obo:GARD_18454 Myasthenic syndrome, congenital, 14 skos:broadMatch Orphanet:353327 semapv:UnspecifiedMatching +obo:GARD_18454 Myasthenic syndrome, congenital, 14 skos:exactMatch OMIM:616228 semapv:UnspecifiedMatching +obo:GARD_18455 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 skos:broadMatch Orphanet:370959 semapv:UnspecifiedMatching +obo:GARD_18455 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 3 skos:exactMatch OMIM:613151 semapv:UnspecifiedMatching +obo:GARD_18456 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 skos:broadMatch Orphanet:370980 semapv:UnspecifiedMatching +obo:GARD_18456 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 skos:exactMatch OMIM:613152 semapv:UnspecifiedMatching +obo:GARD_18457 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:broadMatch Orphanet:371364 semapv:UnspecifiedMatching +obo:GARD_18457 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:exactMatch OMIM:615419 semapv:UnspecifiedMatching +obo:GARD_18458 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:broadMatch Orphanet:371364 semapv:UnspecifiedMatching +obo:GARD_18458 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:exactMatch OMIM:616801 semapv:UnspecifiedMatching +obo:GARD_18459 Microcephaly, short stature, and impaired glucose metabolism 1 skos:broadMatch Orphanet:391408 semapv:UnspecifiedMatching +obo:GARD_18459 Microcephaly, short stature, and impaired glucose metabolism 1 skos:exactMatch OMIM:616033 semapv:UnspecifiedMatching +obo:GARD_18460 Microcephaly, short stature, and impaired glucose metabolism 2 skos:broadMatch Orphanet:391408 semapv:UnspecifiedMatching +obo:GARD_18460 Microcephaly, short stature, and impaired glucose metabolism 2 skos:exactMatch OMIM:616817 semapv:UnspecifiedMatching +obo:GARD_18461 Parkinson disease 19a, juvenile-onset skos:broadMatch Orphanet:391411 semapv:UnspecifiedMatching +obo:GARD_18461 Parkinson disease 19a, juvenile-onset skos:exactMatch OMIM:615528 semapv:UnspecifiedMatching +obo:GARD_18462 Parkinson disease 20, early-onset skos:broadMatch Orphanet:391411 semapv:UnspecifiedMatching +obo:GARD_18462 Parkinson disease 20, early-onset skos:exactMatch OMIM:615530 semapv:UnspecifiedMatching +obo:GARD_18463 Silver-russell syndrome 3 skos:broadMatch Orphanet:397590 semapv:UnspecifiedMatching +obo:GARD_18463 Silver-russell syndrome 3 skos:exactMatch OMIM:616489 semapv:UnspecifiedMatching +obo:GARD_18464 Silver-russell syndrome 4 skos:broadMatch Orphanet:397590 semapv:UnspecifiedMatching +obo:GARD_18464 Silver-russell syndrome 4 skos:exactMatch OMIM:618907 semapv:UnspecifiedMatching +obo:GARD_18465 Silver-russell syndrome 5 skos:broadMatch Orphanet:397590 semapv:UnspecifiedMatching +obo:GARD_18465 Silver-russell syndrome 5 skos:exactMatch OMIM:618908 semapv:UnspecifiedMatching +obo:GARD_18466 Combined oxidative phosphorylation deficiency 19 skos:broadMatch Orphanet:397593 semapv:UnspecifiedMatching +obo:GARD_18466 Combined oxidative phosphorylation deficiency 19 skos:exactMatch OMIM:615595 semapv:UnspecifiedMatching +obo:GARD_18467 Short-rib thoracic dysplasia 14 with polydactyly skos:broadMatch Orphanet:397715 semapv:UnspecifiedMatching +obo:GARD_18467 Short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch OMIM:616546 semapv:UnspecifiedMatching +obo:GARD_18468 Immunodeficiency 15b skos:broadMatch Orphanet:397787 semapv:UnspecifiedMatching +obo:GARD_18468 Immunodeficiency 15b skos:exactMatch OMIM:615592 semapv:UnspecifiedMatching +obo:GARD_18469 Immunodeficiency 15a skos:broadMatch Orphanet:397787 semapv:UnspecifiedMatching +obo:GARD_18469 Immunodeficiency 15a skos:exactMatch OMIM:618204 semapv:UnspecifiedMatching +obo:GARD_18470 Aortic valve disease 1 skos:broadMatch Orphanet:402075 semapv:UnspecifiedMatching +obo:GARD_18470 Aortic valve disease 1 skos:exactMatch OMIM:109730 semapv:UnspecifiedMatching +obo:GARD_18471 Aortic valve disease 2 skos:broadMatch Orphanet:402075 semapv:UnspecifiedMatching +obo:GARD_18471 Aortic valve disease 2 skos:exactMatch OMIM:614823 semapv:UnspecifiedMatching +obo:GARD_18472 Melanoma, cutaneous malignant, susceptibility to, 1 skos:broadMatch Orphanet:404560 semapv:UnspecifiedMatching +obo:GARD_18472 Melanoma, cutaneous malignant, susceptibility to, 1 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18472 Melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch OMIM:155600 semapv:UnspecifiedMatching +obo:GARD_18473 Melanoma-pancreatic cancer syndrome skos:broadMatch Orphanet:404560 semapv:UnspecifiedMatching +obo:GARD_18473 Melanoma-pancreatic cancer syndrome skos:exactMatch OMIM:606719 semapv:UnspecifiedMatching +obo:GARD_18474 Parkinson disease 1, autosomal dominant skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18474 Parkinson disease 1, autosomal dominant skos:exactMatch OMIM:168601 semapv:UnspecifiedMatching +obo:GARD_18475 Parkinson disease 4, autosomal dominant skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18475 Parkinson disease 4, autosomal dominant skos:exactMatch OMIM:605543 semapv:UnspecifiedMatching +obo:GARD_18476 Parkinson disease 8, autosomal dominant skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18476 Parkinson disease 8, autosomal dominant skos:exactMatch OMIM:607060 semapv:UnspecifiedMatching +obo:GARD_18477 Parkinson disease 11, autosomal dominant, susceptibility to skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18477 Parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch OMIM:607688 semapv:UnspecifiedMatching +obo:GARD_18478 Parkinson disease 17 skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18478 Parkinson disease 17 skos:exactMatch OMIM:614203 semapv:UnspecifiedMatching +obo:GARD_18479 Parkinson disease 18, autosomal dominant, susceptibility to skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18479 Parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch OMIM:614251 semapv:UnspecifiedMatching +obo:GARD_18480 Parkinson disease 21 skos:broadMatch Orphanet:411602 semapv:UnspecifiedMatching +obo:GARD_18480 Parkinson disease 21 skos:exactMatch OMIM:616361 semapv:UnspecifiedMatching +obo:GARD_18481 Microcephaly and chorioretinopathy, autosomal recessive, 1 skos:broadMatch Orphanet:2518 semapv:UnspecifiedMatching +obo:GARD_18481 Microcephaly and chorioretinopathy, autosomal recessive, 1 skos:exactMatch OMIM:251270 semapv:UnspecifiedMatching +obo:GARD_18482 Microcephaly and chorioretinopathy, autosomal recessive, 3 skos:broadMatch Orphanet:2518 semapv:UnspecifiedMatching +obo:GARD_18482 Microcephaly and chorioretinopathy, autosomal recessive, 3 skos:exactMatch OMIM:616335 semapv:UnspecifiedMatching +obo:GARD_18483 Short stature, microcephaly, and endocrine dysfunction skos:broadMatch Orphanet:436182 semapv:UnspecifiedMatching +obo:GARD_18483 Short stature, microcephaly, and endocrine dysfunction skos:exactMatch OMIM:616541 semapv:UnspecifiedMatching +obo:GARD_18484 Seckel syndrome 10 skos:broadMatch Orphanet:436182 semapv:UnspecifiedMatching +obo:GARD_18484 Seckel syndrome 10 skos:exactMatch OMIM:617253 semapv:UnspecifiedMatching +obo:GARD_18485 Colorectal cancer, susceptibility to, 10 skos:broadMatch Orphanet:447877 semapv:UnspecifiedMatching +obo:GARD_18485 Colorectal cancer, susceptibility to, 10 skos:exactMatch OMIM:612591 semapv:UnspecifiedMatching +obo:GARD_18486 Colorectal cancer, susceptibility to, 12 skos:broadMatch Orphanet:447877 semapv:UnspecifiedMatching +obo:GARD_18486 Colorectal cancer, susceptibility to, 12 skos:exactMatch OMIM:615083 semapv:UnspecifiedMatching +obo:GARD_18487 Palmoplantar keratoderma, nonepidermolytic, focal 1 skos:broadMatch Orphanet:448264 semapv:UnspecifiedMatching +obo:GARD_18487 Palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch OMIM:613000 semapv:UnspecifiedMatching +obo:GARD_18488 Palmoplantar keratoderma, nonepidermolytic, focal 2 skos:broadMatch Orphanet:448264 semapv:UnspecifiedMatching +obo:GARD_18488 Palmoplantar keratoderma, nonepidermolytic, focal 2 skos:exactMatch OMIM:616400 semapv:UnspecifiedMatching +obo:GARD_18489 Patent ductus arteriosus 2 skos:broadMatch Orphanet:466729 semapv:UnspecifiedMatching +obo:GARD_18489 Patent ductus arteriosus 2 skos:exactMatch OMIM:617035 semapv:UnspecifiedMatching +obo:GARD_18490 Patent ductus arteriosus 3 skos:broadMatch Orphanet:466729 semapv:UnspecifiedMatching +obo:GARD_18490 Patent ductus arteriosus 3 skos:exactMatch OMIM:617039 semapv:UnspecifiedMatching +obo:GARD_18491 Bleeding disorder, platelet-type, 20 skos:broadMatch Orphanet:466806 semapv:UnspecifiedMatching +obo:GARD_18491 Bleeding disorder, platelet-type, 20 skos:exactMatch OMIM:616913 semapv:UnspecifiedMatching +obo:GARD_18492 Thrombocytopenia 7 skos:broadMatch Orphanet:466806 semapv:UnspecifiedMatching +obo:GARD_18492 Thrombocytopenia 7 skos:exactMatch OMIM:619130 semapv:UnspecifiedMatching +obo:GARD_18493 Chilblain lupus 1 skos:broadMatch Orphanet:481662 semapv:UnspecifiedMatching +obo:GARD_18493 Chilblain lupus 1 skos:exactMatch OMIM:610448 semapv:UnspecifiedMatching +obo:GARD_18494 Chilblain lupus 2 skos:broadMatch Orphanet:481662 semapv:UnspecifiedMatching +obo:GARD_18494 Chilblain lupus 2 skos:exactMatch OMIM:614415 semapv:UnspecifiedMatching +obo:GARD_18495 Spinal muscular atrophy with congenital bone fractures 2 skos:broadMatch Orphanet:486811 semapv:UnspecifiedMatching +obo:GARD_18495 Spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch OMIM:616867 semapv:UnspecifiedMatching +obo:GARD_18496 Oocyte maturation defect 2 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +obo:GARD_18496 Oocyte maturation defect 2 skos:exactMatch OMIM:616780 semapv:UnspecifiedMatching +obo:GARD_18497 Oocyte maturation defect 4 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +obo:GARD_18497 Oocyte maturation defect 4 skos:exactMatch OMIM:617743 semapv:UnspecifiedMatching +obo:GARD_18498 Oocyte maturation defect 8 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +obo:GARD_18498 Oocyte maturation defect 8 skos:exactMatch OMIM:619009 semapv:UnspecifiedMatching +obo:GARD_18499 Oocyte maturation defect 9 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +obo:GARD_18499 Oocyte maturation defect 9 skos:exactMatch OMIM:619011 semapv:UnspecifiedMatching +obo:GARD_1850 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch Orphanet:37042 semapv:UnspecifiedMatching +obo:GARD_1850 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:narrowMatch OMIM:304790 semapv:UnspecifiedMatching +obo:GARD_18500 Oocyte maturation defect 10 skos:broadMatch Orphanet:488191 semapv:UnspecifiedMatching +obo:GARD_18500 Oocyte maturation defect 10 skos:exactMatch OMIM:619176 semapv:UnspecifiedMatching +obo:GARD_18501 Intellectual developmental disorder, autosomal dominant 42 skos:broadMatch Orphanet:488613 semapv:UnspecifiedMatching +obo:GARD_18501 Intellectual developmental disorder, autosomal dominant 42 skos:exactMatch OMIM:616973 semapv:UnspecifiedMatching +obo:GARD_18502 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy skos:broadMatch Orphanet:488635 semapv:UnspecifiedMatching +obo:GARD_18502 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy skos:exactMatch OMIM:616917 semapv:UnspecifiedMatching +obo:GARD_18503 Spermatogenic failure, y-linked, 1 skos:broadMatch Orphanet:1646 semapv:UnspecifiedMatching +obo:GARD_18503 Spermatogenic failure, y-linked, 1 skos:exactMatch OMIM:400042 semapv:UnspecifiedMatching +obo:GARD_18504 Spermatogenic failure, y-linked, 2 skos:broadMatch Orphanet:1646 semapv:UnspecifiedMatching +obo:GARD_18504 Spermatogenic failure, y-linked, 2 skos:exactMatch OMIM:415000 semapv:UnspecifiedMatching +obo:GARD_18505 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:broadMatch Orphanet:495930 semapv:UnspecifiedMatching +obo:GARD_18505 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch OMIM:252270 semapv:UnspecifiedMatching +obo:GARD_18506 Monosomy 7 myelodysplasia and leukemia syndrome 2 skos:broadMatch Orphanet:495930 semapv:UnspecifiedMatching +obo:GARD_18506 Monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch OMIM:619041 semapv:UnspecifiedMatching +obo:GARD_18507 Microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:broadMatch Orphanet:508512 semapv:UnspecifiedMatching +obo:GARD_18507 Microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:exactMatch OMIM:618097 semapv:UnspecifiedMatching +obo:GARD_18508 Vertebral, cardiac, renal, and limb defects syndrome 1 skos:broadMatch Orphanet:521438 semapv:UnspecifiedMatching +obo:GARD_18508 Vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch OMIM:617660 semapv:UnspecifiedMatching +obo:GARD_18509 Vertebral, cardiac, renal, and limb defects syndrome 2 skos:broadMatch Orphanet:521438 semapv:UnspecifiedMatching +obo:GARD_18509 Vertebral, cardiac, renal, and limb defects syndrome 2 skos:exactMatch OMIM:617661 semapv:UnspecifiedMatching +obo:GARD_1851 Split cord malformation type I skos:exactMatch Orphanet:1671 semapv:UnspecifiedMatching +obo:GARD_1851 Split cord malformation type I skos:narrowMatch OMIM:222500 semapv:UnspecifiedMatching +obo:GARD_18510 Vertebral, cardiac, renal, and limb defects syndrome 3 skos:broadMatch Orphanet:521438 semapv:UnspecifiedMatching +obo:GARD_18510 Vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch OMIM:618845 semapv:UnspecifiedMatching +obo:GARD_18511 Shukla-vernon syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18511 Shukla-vernon syndrome skos:exactMatch OMIM:301029 semapv:UnspecifiedMatching +obo:GARD_18512 Intellectual developmental disorder with autism and speech delay skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18512 Intellectual developmental disorder with autism and speech delay skos:exactMatch OMIM:606053 semapv:UnspecifiedMatching +obo:GARD_18513 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18513 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 semapv:UnspecifiedMatching +obo:GARD_18514 Intellectual developmental disorder, autosomal dominant 61 skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18514 Intellectual developmental disorder, autosomal dominant 61 skos:exactMatch OMIM:618009 semapv:UnspecifiedMatching +obo:GARD_18515 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18515 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch OMIM:618292 semapv:UnspecifiedMatching +obo:GARD_18516 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18516 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch OMIM:618342 semapv:UnspecifiedMatching +obo:GARD_18517 Developmental delay with variable intellectual impairment and behavioral abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18517 Developmental delay with variable intellectual impairment and behavioral abnormalities skos:exactMatch OMIM:618430 semapv:UnspecifiedMatching +obo:GARD_18518 Intellectual developmental disorder with severe speech and ambulation defects skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18518 Intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch OMIM:618470 semapv:UnspecifiedMatching +obo:GARD_18519 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18519 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch OMIM:618569 semapv:UnspecifiedMatching +obo:GARD_18520 Intellectual developmental disorder with impaired language and dysmorphic facies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18520 Intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch OMIM:618653 semapv:UnspecifiedMatching +obo:GARD_18521 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18521 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch OMIM:618659 semapv:UnspecifiedMatching +obo:GARD_18522 Intellectual developmental disorder with autistic features and language delay, with or without seizures skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18522 Intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch OMIM:618906 semapv:UnspecifiedMatching +obo:GARD_18523 Neurodevelopmental, jaw, eye, and digital syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18523 Neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch OMIM:618914 semapv:UnspecifiedMatching +obo:GARD_18524 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18524 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch OMIM:618922 semapv:UnspecifiedMatching +obo:GARD_18525 Tolchin-le caignec syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18525 Tolchin-le caignec syndrome skos:exactMatch OMIM:618971 semapv:UnspecifiedMatching +obo:GARD_18526 Li-ghorbani-weisz-hubshman syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18526 Li-ghorbani-weisz-hubshman syndrome skos:exactMatch OMIM:618974 semapv:UnspecifiedMatching +obo:GARD_18527 Intellectual developmental disorder with seizures and language delay skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18527 Intellectual developmental disorder with seizures and language delay skos:exactMatch OMIM:619000 semapv:UnspecifiedMatching +obo:GARD_18528 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18528 Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch OMIM:619005 semapv:UnspecifiedMatching +obo:GARD_18529 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18529 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch OMIM:619031 semapv:UnspecifiedMatching +obo:GARD_18530 Neurodevelopmental disorder with speech impairment and dysmorphic facies skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18530 Neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch OMIM:619056 semapv:UnspecifiedMatching +obo:GARD_18531 Neurodevelopmental disorder with seizures and brain atrophy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18531 Neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch OMIM:619072 semapv:UnspecifiedMatching +obo:GARD_18532 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18532 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch OMIM:619076 semapv:UnspecifiedMatching +obo:GARD_18533 Delpire-mcneill syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18533 Delpire-mcneill syndrome skos:exactMatch OMIM:619083 semapv:UnspecifiedMatching +obo:GARD_18534 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18534 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch OMIM:619091 semapv:UnspecifiedMatching +obo:GARD_18535 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18535 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch OMIM:619092 semapv:UnspecifiedMatching +obo:GARD_18536 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18536 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch OMIM:619099 semapv:UnspecifiedMatching +obo:GARD_18537 Kaya-barakat-masson syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18537 Kaya-barakat-masson syndrome skos:exactMatch OMIM:619125 semapv:UnspecifiedMatching +obo:GARD_18538 Lessel-kreienkamp syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18538 Lessel-kreienkamp syndrome skos:exactMatch OMIM:619149 semapv:UnspecifiedMatching +obo:GARD_18539 Neurodevelopmental disorder with or without early-onset generalized epilepsy skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18539 Neurodevelopmental disorder with or without early-onset generalized epilepsy skos:exactMatch OMIM:619157 semapv:UnspecifiedMatching +obo:GARD_18540 Neurodevelopmental disorder with or without autism or seizures skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18540 Neurodevelopmental disorder with or without autism or seizures skos:exactMatch OMIM:619239 semapv:UnspecifiedMatching +obo:GARD_18541 Global developmental delay with speech and behavioral abnormalities skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18541 Global developmental delay with speech and behavioral abnormalities skos:exactMatch OMIM:619243 semapv:UnspecifiedMatching +obo:GARD_18542 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18542 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:exactMatch OMIM:619244 semapv:UnspecifiedMatching +obo:GARD_18543 Neurodevelopmental disorder with dysmorphic facies and variable seizures skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18543 Neurodevelopmental disorder with dysmorphic facies and variable seizures skos:exactMatch OMIM:619264 semapv:UnspecifiedMatching +obo:GARD_18544 Alzahrani-kuwahara syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18544 Alzahrani-kuwahara syndrome skos:exactMatch OMIM:619268 semapv:UnspecifiedMatching +obo:GARD_18545 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18545 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch OMIM:619306 semapv:UnspecifiedMatching +obo:GARD_18546 Buratti-harel syndrome skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18546 Buratti-harel syndrome skos:exactMatch OMIM:619314 semapv:UnspecifiedMatching +obo:GARD_18547 Intellectual developmental disorder, autosomal dominant 65 skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_18547 Intellectual developmental disorder, autosomal dominant 65 skos:exactMatch OMIM:619320 semapv:UnspecifiedMatching +obo:GARD_18548 Robinow syndrome, autosomal dominant 2 skos:broadMatch Orphanet:3107 semapv:UnspecifiedMatching +obo:GARD_18548 Robinow syndrome, autosomal dominant 2 skos:exactMatch OMIM:616331 semapv:UnspecifiedMatching +obo:GARD_18549 Robinow syndrome, autosomal dominant 3 skos:broadMatch Orphanet:3107 semapv:UnspecifiedMatching +obo:GARD_18549 Robinow syndrome, autosomal dominant 3 skos:exactMatch OMIM:616894 semapv:UnspecifiedMatching +obo:GARD_1855 Dicarboxylic aminoaciduria skos:exactMatch Orphanet:2195 semapv:UnspecifiedMatching +obo:GARD_1855 Dicarboxylic aminoaciduria skos:narrowMatch OMIM:222730 semapv:UnspecifiedMatching +obo:GARD_18550 Hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18550 Hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:exactMatch OMIM:235400 semapv:UnspecifiedMatching +obo:GARD_18551 Complement factor h deficiency skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18551 Complement factor h deficiency skos:exactMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_18552 Hemolytic uremic syndrome, atypical, susceptibility to, 2 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18552 Hemolytic uremic syndrome, atypical, susceptibility to, 2 skos:exactMatch OMIM:612922 semapv:UnspecifiedMatching +obo:GARD_18553 Hemolytic uremic syndrome, atypical, susceptibility to, 3 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18553 Hemolytic uremic syndrome, atypical, susceptibility to, 3 skos:exactMatch OMIM:612923 semapv:UnspecifiedMatching +obo:GARD_18554 Hemolytic uremic syndrome, atypical, susceptibility to, 4 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18554 Hemolytic uremic syndrome, atypical, susceptibility to, 4 skos:exactMatch OMIM:612924 semapv:UnspecifiedMatching +obo:GARD_18555 Hemolytic uremic syndrome, atypical, susceptibility to, 5 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18555 Hemolytic uremic syndrome, atypical, susceptibility to, 5 skos:exactMatch OMIM:612925 semapv:UnspecifiedMatching +obo:GARD_18556 Hemolytic uremic syndrome, atypical, susceptibility to, 6 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18556 Hemolytic uremic syndrome, atypical, susceptibility to, 6 skos:exactMatch OMIM:612926 semapv:UnspecifiedMatching +obo:GARD_18557 Nephrotic syndrome, type 7 skos:broadMatch Orphanet:544472 semapv:UnspecifiedMatching +obo:GARD_18557 Nephrotic syndrome, type 7 skos:exactMatch OMIM:615008 semapv:UnspecifiedMatching +obo:GARD_18558 Trigonocephaly 1 skos:broadMatch Orphanet:3366 semapv:UnspecifiedMatching +obo:GARD_18558 Trigonocephaly 1 skos:exactMatch OMIM:190440 semapv:UnspecifiedMatching +obo:GARD_18559 Trigonocephaly 2 skos:broadMatch Orphanet:3366 semapv:UnspecifiedMatching +obo:GARD_18559 Trigonocephaly 2 skos:exactMatch OMIM:614485 semapv:UnspecifiedMatching +obo:GARD_18560 Endove syndrome, limb-only type skos:broadMatch Orphanet:611223 semapv:UnspecifiedMatching +obo:GARD_18560 Endove syndrome, limb-only type skos:exactMatch OMIM:619217 semapv:UnspecifiedMatching +obo:GARD_18561 Endove syndrome, limb-brain type skos:broadMatch Orphanet:611223 semapv:UnspecifiedMatching +obo:GARD_18561 Endove syndrome, limb-brain type skos:exactMatch OMIM:619218 semapv:UnspecifiedMatching +obo:GARD_18562 Pontocerebellar hypoplasia, type 14 skos:broadMatch Orphanet:613274 semapv:UnspecifiedMatching +obo:GARD_18562 Pontocerebellar hypoplasia, type 14 skos:exactMatch OMIM:619301 semapv:UnspecifiedMatching +obo:GARD_18563 Pontocerebellar hypoplasia, type 15 skos:broadMatch Orphanet:613274 semapv:UnspecifiedMatching +obo:GARD_18563 Pontocerebellar hypoplasia, type 15 skos:exactMatch OMIM:619302 semapv:UnspecifiedMatching +obo:GARD_18564 Lethal congenital contracture syndrome 7 skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +obo:GARD_18564 Lethal congenital contracture syndrome 7 skos:exactMatch OMIM:616286 semapv:UnspecifiedMatching +obo:GARD_18565 Lethal congenital contracture syndrome 8 skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +obo:GARD_18565 Lethal congenital contracture syndrome 8 skos:exactMatch OMIM:616287 semapv:UnspecifiedMatching +obo:GARD_18566 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +obo:GARD_18566 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch OMIM:617468 semapv:UnspecifiedMatching +obo:GARD_18567 Neuropathy, congenital hypomyelinating, 3 skos:broadMatch Orphanet:2680 semapv:UnspecifiedMatching +obo:GARD_18567 Neuropathy, congenital hypomyelinating, 3 skos:exactMatch OMIM:618186 semapv:UnspecifiedMatching +obo:GARD_18568 Thrombophilia due to protein s deficiency, autosomal dominant skos:broadMatch Orphanet:743 semapv:UnspecifiedMatching +obo:GARD_18568 Thrombophilia due to protein s deficiency, autosomal dominant skos:exactMatch OMIM:612336 semapv:UnspecifiedMatching +obo:GARD_18569 Thrombophilia due to protein s deficiency, autosomal recessive skos:broadMatch Orphanet:743 semapv:UnspecifiedMatching +obo:GARD_18569 Thrombophilia due to protein s deficiency, autosomal recessive skos:exactMatch OMIM:614514 semapv:UnspecifiedMatching +obo:GARD_18570 Mitochondrial complex iv deficiency, nuclear type 2 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +obo:GARD_18570 Mitochondrial complex iv deficiency, nuclear type 2 skos:exactMatch OMIM:604377 semapv:UnspecifiedMatching +obo:GARD_18571 Mitochondrial complex iv deficiency, nuclear type 6 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +obo:GARD_18571 Mitochondrial complex iv deficiency, nuclear type 6 skos:exactMatch OMIM:615119 semapv:UnspecifiedMatching +obo:GARD_18572 Mitochondrial complex iv deficiency, nuclear type 9 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +obo:GARD_18572 Mitochondrial complex iv deficiency, nuclear type 9 skos:exactMatch OMIM:616500 semapv:UnspecifiedMatching +obo:GARD_18573 Mitochondrial complex iv deficiency, nuclear type 13 skos:broadMatch Orphanet:1561 semapv:UnspecifiedMatching +obo:GARD_18573 Mitochondrial complex iv deficiency, nuclear type 13 skos:exactMatch OMIM:616501 semapv:UnspecifiedMatching +obo:GARD_18574 Thrombophilia due to protein c deficiency, autosomal dominant skos:broadMatch Orphanet:745 semapv:UnspecifiedMatching +obo:GARD_18574 Thrombophilia due to protein c deficiency, autosomal dominant skos:exactMatch OMIM:176860 semapv:UnspecifiedMatching +obo:GARD_18575 Melanoma, cutaneous malignant, susceptibility to, 2 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18575 Melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155601 semapv:UnspecifiedMatching +obo:GARD_18576 Melanoma, malignant familial intraocular skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18576 Melanoma, malignant familial intraocular skos:exactMatch OMIM:155700 semapv:UnspecifiedMatching +obo:GARD_18577 Melanoma, cutaneous malignant, susceptibility to, 4 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18577 Melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch OMIM:608035 semapv:UnspecifiedMatching +obo:GARD_18578 Melanoma, cutaneous malignant, susceptibility to, 3 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18578 Melanoma, cutaneous malignant, susceptibility to, 3 skos:exactMatch OMIM:609048 semapv:UnspecifiedMatching +obo:GARD_18579 Melanoma, cutaneous malignant, susceptibility to, 5 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18579 Melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch OMIM:613099 semapv:UnspecifiedMatching +obo:GARD_18580 Melanoma, cutaneous malignant, susceptibility to, 6 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18580 Melanoma, cutaneous malignant, susceptibility to, 6 skos:exactMatch OMIM:613972 semapv:UnspecifiedMatching +obo:GARD_18581 Melanoma, cutaneous malignant, susceptibility to, 9 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18581 Melanoma, cutaneous malignant, susceptibility to, 9 skos:exactMatch OMIM:615134 semapv:UnspecifiedMatching +obo:GARD_18582 Melanoma, cutaneous malignant, susceptibility to, 10 skos:broadMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_18582 Melanoma, cutaneous malignant, susceptibility to, 10 skos:exactMatch OMIM:615848 semapv:UnspecifiedMatching +obo:GARD_18583 Hypercalciuria, absorptive, 2 skos:broadMatch Orphanet:2197 semapv:UnspecifiedMatching +obo:GARD_18583 Hypercalciuria, absorptive, 2 skos:exactMatch OMIM:143870 semapv:UnspecifiedMatching +obo:GARD_18584 Hypercalciuria, absorptive, 1 skos:broadMatch Orphanet:2197 semapv:UnspecifiedMatching +obo:GARD_18584 Hypercalciuria, absorptive, 1 skos:exactMatch OMIM:607258 semapv:UnspecifiedMatching +obo:GARD_18585 Congenital short bowel syndrome skos:broadMatch Orphanet:2301 semapv:UnspecifiedMatching +obo:GARD_18585 Congenital short bowel syndrome skos:exactMatch OMIM:615237 semapv:UnspecifiedMatching +obo:GARD_18586 Omphalocele, autosomal skos:broadMatch Orphanet:660 semapv:UnspecifiedMatching +obo:GARD_18586 Omphalocele, autosomal skos:exactMatch OMIM:164750 semapv:UnspecifiedMatching +obo:GARD_18587 Omphalocele, x-linked skos:broadMatch Orphanet:660 semapv:UnspecifiedMatching +obo:GARD_18587 Omphalocele, x-linked skos:exactMatch OMIM:310980 semapv:UnspecifiedMatching +obo:GARD_18588 Erythrokeratodermia variabilis et progressiva 2 skos:broadMatch Orphanet:317 semapv:UnspecifiedMatching +obo:GARD_18588 Erythrokeratodermia variabilis et progressiva 2 skos:exactMatch OMIM:617524 semapv:UnspecifiedMatching +obo:GARD_18589 Erythrokeratodermia variabilis et progressiva 3 skos:broadMatch Orphanet:317 semapv:UnspecifiedMatching +obo:GARD_18589 Erythrokeratodermia variabilis et progressiva 3 skos:exactMatch OMIM:617525 semapv:UnspecifiedMatching +obo:GARD_1859 Diethylstilbestrol syndrome skos:exactMatch Orphanet:1916 semapv:UnspecifiedMatching +obo:GARD_18590 Erythrokeratodermia variabilis et progressiva 4 skos:broadMatch Orphanet:317 semapv:UnspecifiedMatching +obo:GARD_18590 Erythrokeratodermia variabilis et progressiva 4 skos:exactMatch OMIM:617526 semapv:UnspecifiedMatching +obo:GARD_18591 Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant skos:broadMatch Orphanet:1810 semapv:UnspecifiedMatching +obo:GARD_18591 Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch OMIM:129490 semapv:UnspecifiedMatching +obo:GARD_18592 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant skos:broadMatch Orphanet:1810 semapv:UnspecifiedMatching +obo:GARD_18592 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant skos:exactMatch OMIM:614940 semapv:UnspecifiedMatching +obo:GARD_18593 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:broadMatch Orphanet:1810 semapv:UnspecifiedMatching +obo:GARD_18593 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:exactMatch OMIM:617337 semapv:UnspecifiedMatching +obo:GARD_18594 Sarcoidosis, susceptibility to, 1 skos:broadMatch Orphanet:797 semapv:UnspecifiedMatching +obo:GARD_18594 Sarcoidosis, susceptibility to, 1 skos:exactMatch OMIM:181000 semapv:UnspecifiedMatching +obo:GARD_18595 Sarcoidosis, susceptibility to, 2 skos:broadMatch Orphanet:797 semapv:UnspecifiedMatching +obo:GARD_18595 Sarcoidosis, susceptibility to, 2 skos:exactMatch OMIM:612387 semapv:UnspecifiedMatching +obo:GARD_18596 Sarcoidosis, susceptibility to, 3 skos:broadMatch Orphanet:797 semapv:UnspecifiedMatching +obo:GARD_18596 Sarcoidosis, susceptibility to, 3 skos:exactMatch OMIM:612388 semapv:UnspecifiedMatching +obo:GARD_18597 Polycystic kidney disease 1 with or without polycystic liver disease skos:broadMatch Orphanet:730 semapv:UnspecifiedMatching +obo:GARD_18597 Polycystic kidney disease 1 with or without polycystic liver disease skos:exactMatch OMIM:173900 semapv:UnspecifiedMatching +obo:GARD_18598 Polycystic kidney disease 3 with or without polycystic liver disease skos:broadMatch Orphanet:730 semapv:UnspecifiedMatching +obo:GARD_18598 Polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch OMIM:600666 semapv:UnspecifiedMatching +obo:GARD_18599 Polycystic kidney disease 2 with or without polycystic liver disease skos:broadMatch Orphanet:730 semapv:UnspecifiedMatching +obo:GARD_18599 Polycystic kidney disease 2 with or without polycystic liver disease skos:exactMatch OMIM:613095 semapv:UnspecifiedMatching +obo:GARD_18600 Hypogonadotropic hypogonadism 10 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_18600 Hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch OMIM:614839 semapv:UnspecifiedMatching +obo:GARD_18601 Hypogonadotropic hypogonadism 13 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_18601 Hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch OMIM:614842 semapv:UnspecifiedMatching +obo:GARD_18602 Diabetes insipidus, neurohypophyseal skos:broadMatch Orphanet:30925 semapv:UnspecifiedMatching +obo:GARD_18602 Diabetes insipidus, neurohypophyseal skos:exactMatch OMIM:125700 semapv:UnspecifiedMatching +obo:GARD_18603 Diabetes insipidus, neurohypophyseal, x-linked skos:broadMatch Orphanet:30925 semapv:UnspecifiedMatching +obo:GARD_18603 Diabetes insipidus, neurohypophyseal, x-linked skos:exactMatch OMIM:304900 semapv:UnspecifiedMatching +obo:GARD_18604 Parkinson disease 12 skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18604 Parkinson disease 12 skos:exactMatch OMIM:300557 semapv:UnspecifiedMatching +obo:GARD_18605 Parkinson disease 6, autosomal recessive early-onset skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18605 Parkinson disease 6, autosomal recessive early-onset skos:exactMatch OMIM:605909 semapv:UnspecifiedMatching +obo:GARD_18606 Parkinson disease 7, autosomal recessive early-onset skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18606 Parkinson disease 7, autosomal recessive early-onset skos:exactMatch OMIM:606324 semapv:UnspecifiedMatching +obo:GARD_18607 Parkinson disease 10 skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18607 Parkinson disease 10 skos:exactMatch OMIM:606852 semapv:UnspecifiedMatching +obo:GARD_18608 Parkinson disease 13, autosomal dominant, susceptibility to skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18608 Parkinson disease 13, autosomal dominant, susceptibility to skos:exactMatch OMIM:610297 semapv:UnspecifiedMatching +obo:GARD_18609 Parkinson disease 5, autosomal dominant, susceptibility to skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18609 Parkinson disease 5, autosomal dominant, susceptibility to skos:exactMatch OMIM:613643 semapv:UnspecifiedMatching +obo:GARD_1861 Diffuse neonatal hemangiomatosis skos:exactMatch Orphanet:2123 semapv:UnspecifiedMatching +obo:GARD_18610 Parkinson disease 23, autosomal recessive early-onset skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_18610 Parkinson disease 23, autosomal recessive early-onset skos:exactMatch OMIM:616840 semapv:UnspecifiedMatching +obo:GARD_18611 Atrial standstill 1 skos:broadMatch Orphanet:1344 semapv:UnspecifiedMatching +obo:GARD_18611 Atrial standstill 1 skos:exactMatch OMIM:108770 semapv:UnspecifiedMatching +obo:GARD_18612 Atrial standstill 2 skos:broadMatch Orphanet:1344 semapv:UnspecifiedMatching +obo:GARD_18612 Atrial standstill 2 skos:exactMatch OMIM:615745 semapv:UnspecifiedMatching +obo:GARD_18613 Xanthomatosis, susceptibility to skos:broadMatch Orphanet:391665 semapv:UnspecifiedMatching +obo:GARD_18613 Xanthomatosis, susceptibility to skos:exactMatch OMIM:602247 semapv:UnspecifiedMatching +obo:GARD_18614 Hypercholesterolemia, familial, 4 skos:broadMatch Orphanet:391665 semapv:UnspecifiedMatching +obo:GARD_18614 Hypercholesterolemia, familial, 4 skos:exactMatch OMIM:603813 semapv:UnspecifiedMatching +obo:GARD_18615 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation skos:exactMatch Orphanet:300751 semapv:UnspecifiedMatching +obo:GARD_18615 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation skos:narrowMatch OMIM:115200 semapv:UnspecifiedMatching +obo:GARD_18616 Dystonia 11, myoclonic skos:broadMatch Orphanet:36899 semapv:UnspecifiedMatching +obo:GARD_18616 Dystonia 11, myoclonic skos:exactMatch OMIM:159900 semapv:UnspecifiedMatching +obo:GARD_18617 Developmental and epileptic encephalopathy 2 skos:broadMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_18617 Developmental and epileptic encephalopathy 2 skos:broadMatch Orphanet:3095 semapv:UnspecifiedMatching +obo:GARD_18617 Developmental and epileptic encephalopathy 2 skos:broadMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_18617 Developmental and epileptic encephalopathy 2 skos:exactMatch OMIM:300672 semapv:UnspecifiedMatching +obo:GARD_18619 Amyotrophic lateral sclerosis 21 skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_18619 Amyotrophic lateral sclerosis 21 skos:exactMatch OMIM:606070 semapv:UnspecifiedMatching +obo:GARD_1862 Non-epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 semapv:UnspecifiedMatching +obo:GARD_1862 Non-epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:600231 semapv:UnspecifiedMatching +obo:GARD_18620 Pigmented nodular adrenocortical disease, primary, 1 skos:broadMatch Orphanet:189439 semapv:UnspecifiedMatching +obo:GARD_18620 Pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch OMIM:610489 semapv:UnspecifiedMatching +obo:GARD_18621 Cholestasis, progressive familial intrahepatic, 4 skos:broadMatch Orphanet:79304 semapv:UnspecifiedMatching +obo:GARD_18621 Cholestasis, progressive familial intrahepatic, 4 skos:exactMatch OMIM:615878 semapv:UnspecifiedMatching +obo:GARD_18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay skos:broadMatch Orphanet:1147 semapv:UnspecifiedMatching +obo:GARD_18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay skos:broadMatch Orphanet:2053 semapv:UnspecifiedMatching +obo:GARD_18622 Congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch OMIM:616266 semapv:UnspecifiedMatching +obo:GARD_18623 Intellectual developmental disorder, autosomal dominant 1 skos:broadMatch Orphanet:178469 semapv:UnspecifiedMatching +obo:GARD_18623 Intellectual developmental disorder, autosomal dominant 1 skos:exactMatch OMIM:156200 semapv:UnspecifiedMatching +obo:GARD_18624 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism skos:broadMatch Orphanet:88637 semapv:UnspecifiedMatching +obo:GARD_18624 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch OMIM:614381 semapv:UnspecifiedMatching +obo:GARD_18625 Nanophthalmos 1 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +obo:GARD_18625 Nanophthalmos 1 skos:exactMatch OMIM:600165 semapv:UnspecifiedMatching +obo:GARD_18626 Nanophthalmos 2 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +obo:GARD_18626 Nanophthalmos 2 skos:exactMatch OMIM:609549 semapv:UnspecifiedMatching +obo:GARD_18627 Nanophthalmos 3 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +obo:GARD_18627 Nanophthalmos 3 skos:exactMatch OMIM:611897 semapv:UnspecifiedMatching +obo:GARD_18628 Microphthalmia, isolated 6 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +obo:GARD_18628 Microphthalmia, isolated 6 skos:exactMatch OMIM:613517 semapv:UnspecifiedMatching +obo:GARD_18629 Nanophthalmos 4 skos:broadMatch Orphanet:35612 semapv:UnspecifiedMatching +obo:GARD_18629 Nanophthalmos 4 skos:exactMatch OMIM:615972 semapv:UnspecifiedMatching +obo:GARD_18630 Factor v and factor viii, combined deficiency of, 1 skos:broadMatch Orphanet:35909 semapv:UnspecifiedMatching +obo:GARD_18630 Factor v and factor viii, combined deficiency of, 1 skos:exactMatch OMIM:227300 semapv:UnspecifiedMatching +obo:GARD_18631 Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor skos:broadMatch Orphanet:35909 semapv:UnspecifiedMatching +obo:GARD_18631 Factor v and factor viii, combined deficiency of, with normal protein c and protein c inhibitor skos:exactMatch OMIM:227310 semapv:UnspecifiedMatching +obo:GARD_18632 Factor v and factor viii, combined deficiency of, 2 skos:broadMatch Orphanet:35909 semapv:UnspecifiedMatching +obo:GARD_18632 Factor v and factor viii, combined deficiency of, 2 skos:exactMatch OMIM:613625 semapv:UnspecifiedMatching +obo:GARD_18633 Short qt syndrome 1 skos:broadMatch Orphanet:51083 semapv:UnspecifiedMatching +obo:GARD_18633 Short qt syndrome 1 skos:exactMatch OMIM:609620 semapv:UnspecifiedMatching +obo:GARD_18634 Short qt syndrome 2 skos:broadMatch Orphanet:51083 semapv:UnspecifiedMatching +obo:GARD_18634 Short qt syndrome 2 skos:exactMatch OMIM:609621 semapv:UnspecifiedMatching +obo:GARD_18635 Short qt syndrome 3 skos:broadMatch Orphanet:51083 semapv:UnspecifiedMatching +obo:GARD_18635 Short qt syndrome 3 skos:exactMatch OMIM:609622 semapv:UnspecifiedMatching +obo:GARD_18636 Vitamin d hydroxylation-deficient rickets, type 1a skos:broadMatch Orphanet:289157 semapv:UnspecifiedMatching +obo:GARD_18636 Vitamin d hydroxylation-deficient rickets, type 1a skos:exactMatch OMIM:264700 semapv:UnspecifiedMatching +obo:GARD_18637 Amyloidosis, primary localized cutaneous, 1 skos:broadMatch Orphanet:353220 semapv:UnspecifiedMatching +obo:GARD_18637 Amyloidosis, primary localized cutaneous, 1 skos:exactMatch OMIM:105250 semapv:UnspecifiedMatching +obo:GARD_18638 Amyloidosis, primary localized cutaneous, 2 skos:broadMatch Orphanet:353220 semapv:UnspecifiedMatching +obo:GARD_18638 Amyloidosis, primary localized cutaneous, 2 skos:exactMatch OMIM:613955 semapv:UnspecifiedMatching +obo:GARD_18639 Progressive symmetric erythrokeratodermia skos:exactMatch Orphanet:316 semapv:UnspecifiedMatching +obo:GARD_18639 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:617756 semapv:UnspecifiedMatching +obo:GARD_18639 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:618531 semapv:UnspecifiedMatching +obo:GARD_18639 Progressive symmetric erythrokeratodermia skos:narrowMatch OMIM:619209 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300046 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300047 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300062 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300115 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300143 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300210 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300271 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300324 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300355 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300372 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300387 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300419 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300428 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300433 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300436 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300454 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300498 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300505 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300518 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300558 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300705 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300716 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300802 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300803 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300844 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300848 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300849 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300850 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300851 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300852 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300919 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300928 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300978 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300983 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:300984 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:301013 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:309530 semapv:UnspecifiedMatching +obo:GARD_18640 X-linked non-syndromic intellectual disability skos:narrowMatch OMIM:309549 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:604233 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:604403 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:609800 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:612279 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613060 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613828 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:613863 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:616172 semapv:UnspecifiedMatching +obo:GARD_18641 Generalized epilepsy with febrile seizures-plus skos:narrowMatch OMIM:618482 semapv:UnspecifiedMatching +obo:GARD_18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch Orphanet:46532 semapv:UnspecifiedMatching +obo:GARD_18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:141749 semapv:UnspecifiedMatching +obo:GARD_18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:142335 semapv:UnspecifiedMatching +obo:GARD_18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:142470 semapv:UnspecifiedMatching +obo:GARD_18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:305435 semapv:UnspecifiedMatching +obo:GARD_18642 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:narrowMatch OMIM:613566 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:249500 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:607417 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:608443 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611090 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611091 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611092 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611093 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611095 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611096 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611097 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:611107 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:613192 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614020 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614202 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614208 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614249 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614329 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614333 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614340 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614341 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614342 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614343 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614344 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614345 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614346 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614347 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:614499 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615802 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615817 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615942 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:615979 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616116 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616193 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616460 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616739 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:616887 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617028 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617125 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617188 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617709 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:617816 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618109 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618221 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618402 semapv:UnspecifiedMatching +obo:GARD_18643 Autosomal recessive non-syndromic intellectual disability skos:narrowMatch OMIM:618687 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:220290 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600060 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600316 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600791 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600792 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600971 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:600974 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601071 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601072 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601386 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:601869 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:602092 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603010 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603098 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603629 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603678 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:603720 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:604060 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:605428 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:605818 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607039 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607084 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607101 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607239 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:607821 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608219 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608264 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608265 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608565 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:608653 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609006 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609439 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609533 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609646 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609647 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609706 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609823 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609941 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609946 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:609952 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610143 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610153 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610154 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610212 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610220 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610248 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610265 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:610419 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:611022 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:611451 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:612433 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:612645 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:612789 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613079 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613285 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613307 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613391 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613392 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613453 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613685 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613718 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613865 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:613916 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614035 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614414 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614617 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614861 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614899 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614934 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614944 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:614945 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615429 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615540 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615837 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:615974 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:616042 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:616515 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:616705 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:617637 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:617639 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:617654 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618145 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618257 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618410 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618422 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618434 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618456 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:618481 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:619093 semapv:UnspecifiedMatching +obo:GARD_18644 Autosomal recessive non-syndromic sensorineural deafness type DFNB skos:narrowMatch OMIM:619174 semapv:UnspecifiedMatching +obo:GARD_18645 Juvenile nephronophthisis skos:exactMatch Orphanet:93592 semapv:UnspecifiedMatching +obo:GARD_18645 Juvenile nephronophthisis skos:narrowMatch OMIM:256100 semapv:UnspecifiedMatching +obo:GARD_18645 Juvenile nephronophthisis skos:narrowMatch OMIM:615382 semapv:UnspecifiedMatching +obo:GARD_18646 Overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching +obo:GARD_18646 Overgrowth-macrocephaly-facial dysmorphism syndrome skos:narrowMatch OMIM:613675 semapv:UnspecifiedMatching +obo:GARD_18647 Hereditary persistence of alpha-fetoprotein skos:exactMatch Orphanet:168615 semapv:UnspecifiedMatching +obo:GARD_18647 Hereditary persistence of alpha-fetoprotein skos:narrowMatch OMIM:615970 semapv:UnspecifiedMatching +obo:GARD_18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:exactMatch Orphanet:251380 semapv:UnspecifiedMatching +obo:GARD_18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:141749 semapv:UnspecifiedMatching +obo:GARD_18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:142335 semapv:UnspecifiedMatching +obo:GARD_18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:142470 semapv:UnspecifiedMatching +obo:GARD_18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:305435 semapv:UnspecifiedMatching +obo:GARD_18648 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:narrowMatch OMIM:613566 semapv:UnspecifiedMatching +obo:GARD_18649 Isolated ATP synthase deficiency skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching +obo:GARD_18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:604273 semapv:UnspecifiedMatching +obo:GARD_18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:614053 semapv:UnspecifiedMatching +obo:GARD_18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:615228 semapv:UnspecifiedMatching +obo:GARD_18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:618120 semapv:UnspecifiedMatching +obo:GARD_18649 Isolated ATP synthase deficiency skos:narrowMatch OMIM:618683 semapv:UnspecifiedMatching +obo:GARD_18650 Autosomal recessive nail dysplasia skos:exactMatch Orphanet:280654 semapv:UnspecifiedMatching +obo:GARD_18650 Autosomal recessive nail dysplasia skos:narrowMatch OMIM:161050 semapv:UnspecifiedMatching +obo:GARD_18651 Familial benign flecked retina skos:exactMatch Orphanet:363989 semapv:UnspecifiedMatching +obo:GARD_18651 Familial benign flecked retina skos:narrowMatch OMIM:228980 semapv:UnspecifiedMatching +obo:GARD_18652 Isolated sedoheptulokinase deficiency skos:exactMatch Orphanet:440713 semapv:UnspecifiedMatching +obo:GARD_18652 Isolated sedoheptulokinase deficiency skos:narrowMatch OMIM:617213 semapv:UnspecifiedMatching +obo:GARD_18653 DNAJB2-related Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:443950 semapv:UnspecifiedMatching +obo:GARD_18653 DNAJB2-related Charcot-Marie-Tooth disease type 2 skos:narrowMatch OMIM:614881 semapv:UnspecifiedMatching +obo:GARD_18654 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome skos:exactMatch Orphanet:444069 semapv:UnspecifiedMatching +obo:GARD_18654 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome skos:narrowMatch OMIM:243605 semapv:UnspecifiedMatching +obo:GARD_18655 Microcephaly-short stature-limb abnormalities syndrome skos:exactMatch Orphanet:572773 semapv:UnspecifiedMatching +obo:GARD_18656 Fetal hemoglobin quantitative trait locus 1 skos:broadMatch Orphanet:251380 semapv:UnspecifiedMatching +obo:GARD_18656 Fetal hemoglobin quantitative trait locus 1 skos:broadMatch Orphanet:46532 semapv:UnspecifiedMatching +obo:GARD_18656 Fetal hemoglobin quantitative trait locus 1 skos:exactMatch OMIM:141749 semapv:UnspecifiedMatching +obo:GARD_18657 Fetal hemoglobin quantitative trait locus 2 skos:broadMatch Orphanet:251380 semapv:UnspecifiedMatching +obo:GARD_18657 Fetal hemoglobin quantitative trait locus 2 skos:broadMatch Orphanet:46532 semapv:UnspecifiedMatching +obo:GARD_18657 Fetal hemoglobin quantitative trait locus 2 skos:exactMatch OMIM:142470 semapv:UnspecifiedMatching +obo:GARD_18658 Fetal hemoglobin quantitative trait locus 3 skos:broadMatch Orphanet:251380 semapv:UnspecifiedMatching +obo:GARD_18658 Fetal hemoglobin quantitative trait locus 3 skos:broadMatch Orphanet:46532 semapv:UnspecifiedMatching +obo:GARD_18658 Fetal hemoglobin quantitative trait locus 3 skos:exactMatch OMIM:305435 semapv:UnspecifiedMatching +obo:GARD_18659 Generalized epilepsy with febrile seizures plus, type 1 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18659 Generalized epilepsy with febrile seizures plus, type 1 skos:exactMatch OMIM:604233 semapv:UnspecifiedMatching +obo:GARD_18660 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +obo:GARD_18660 Mitochondrial complex v (atp synthase) deficiency, nuclear type 1 skos:exactMatch OMIM:604273 semapv:UnspecifiedMatching +obo:GARD_18661 Generalized epilepsy with febrile seizures plus, type 2 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18661 Generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch OMIM:604403 semapv:UnspecifiedMatching +obo:GARD_18662 Generalized epilepsy with febrile seizures plus, type 4 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18662 Generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch OMIM:609800 semapv:UnspecifiedMatching +obo:GARD_18663 Generalized epilepsy with febrile seizures plus, type 6 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18663 Generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch OMIM:612279 semapv:UnspecifiedMatching +obo:GARD_18664 Generalized epilepsy with febrile seizures plus, type 8 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18664 Generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch OMIM:613828 semapv:UnspecifiedMatching +obo:GARD_18665 Generalized epilepsy with febrile seizures plus, type 7 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18665 Generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch OMIM:613863 semapv:UnspecifiedMatching +obo:GARD_18666 Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +obo:GARD_18666 Mitochondrial complex v (atp synthase) deficiency, nuclear type 3 skos:exactMatch OMIM:614053 semapv:UnspecifiedMatching +obo:GARD_18667 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +obo:GARD_18667 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 skos:exactMatch OMIM:615228 semapv:UnspecifiedMatching +obo:GARD_18668 Generalized epilepsy with febrile seizures plus, type 9 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18668 Generalized epilepsy with febrile seizures plus, type 9 skos:exactMatch OMIM:616172 semapv:UnspecifiedMatching +obo:GARD_18669 Erythrokeratodermia variabilis et progressiva 5 skos:broadMatch Orphanet:316 semapv:UnspecifiedMatching +obo:GARD_18669 Erythrokeratodermia variabilis et progressiva 5 skos:exactMatch OMIM:617756 semapv:UnspecifiedMatching +obo:GARD_18670 Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +obo:GARD_18670 Mitochondrial complex v (atp synthase) deficiency, nuclear type 5 skos:exactMatch OMIM:618120 semapv:UnspecifiedMatching +obo:GARD_18671 Generalized epilepsy with febrile seizures plus, type 10 skos:broadMatch Orphanet:36387 semapv:UnspecifiedMatching +obo:GARD_18671 Generalized epilepsy with febrile seizures plus, type 10 skos:exactMatch OMIM:618482 semapv:UnspecifiedMatching +obo:GARD_18672 Erythrokeratodermia variabilis et progressiva 6 skos:broadMatch Orphanet:316 semapv:UnspecifiedMatching +obo:GARD_18672 Erythrokeratodermia variabilis et progressiva 6 skos:exactMatch OMIM:618531 semapv:UnspecifiedMatching +obo:GARD_18673 Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 skos:broadMatch Orphanet:254913 semapv:UnspecifiedMatching +obo:GARD_18673 Mitochondrial complex v (atp synthase) deficiency, nuclear type 6 skos:exactMatch OMIM:618683 semapv:UnspecifiedMatching +obo:GARD_18674 Erythrokeratodermia variabilis et progressiva 7 skos:broadMatch Orphanet:316 semapv:UnspecifiedMatching +obo:GARD_18674 Erythrokeratodermia variabilis et progressiva 7 skos:exactMatch OMIM:619209 semapv:UnspecifiedMatching +obo:GARD_18675 Amoebiasis due to Entamoeba histolytica skos:exactMatch Orphanet:67 semapv:UnspecifiedMatching +obo:GARD_18676 Amyloidosis skos:exactMatch Orphanet:69 semapv:UnspecifiedMatching +obo:GARD_18677 Juvenile idiopathic arthritis skos:exactMatch Orphanet:92 semapv:UnspecifiedMatching +obo:GARD_18678 Atresia of urethra skos:exactMatch Orphanet:105 semapv:UnspecifiedMatching +obo:GARD_18679 Non-rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:176 semapv:UnspecifiedMatching +obo:GARD_18680 Scimitar syndrome skos:exactMatch Orphanet:185 semapv:UnspecifiedMatching +obo:GARD_18681 Isolated corpus callosum agenesis skos:exactMatch Orphanet:200 semapv:UnspecifiedMatching +obo:GARD_18682 Neonatal diabetes mellitus skos:exactMatch Orphanet:224 semapv:UnspecifiedMatching +obo:GARD_18683 Trisomy 9p skos:exactMatch Orphanet:236 semapv:UnspecifiedMatching +obo:GARD_18684 Digestive duplication skos:exactMatch Orphanet:238 semapv:UnspecifiedMatching +obo:GARD_18685 Spondylometaphyseal dysplasia skos:exactMatch Orphanet:254 semapv:UnspecifiedMatching +obo:GARD_18686 Duchenne and Becker muscular dystrophy skos:exactMatch Orphanet:262 semapv:UnspecifiedMatching +obo:GARD_18687 Congenital herpes simplex virus infection skos:exactMatch Orphanet:293 semapv:UnspecifiedMatching +obo:GARD_18688 Reflex epilepsy skos:exactMatch Orphanet:310 semapv:UnspecifiedMatching +obo:GARD_18689 Hemorrhagic fever-renal syndrome skos:exactMatch Orphanet:340 semapv:UnspecifiedMatching +obo:GARD_18690 Arbovirus fever skos:exactMatch Orphanet:344 semapv:UnspecifiedMatching +obo:GARD_18691 Glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch Orphanet:370 semapv:UnspecifiedMatching +obo:GARD_18692 Histoplasmosis skos:exactMatch Orphanet:390 semapv:UnspecifiedMatching +obo:GARD_18693 Familial keratoacanthoma skos:exactMatch Orphanet:493 semapv:UnspecifiedMatching +obo:GARD_18694 Keratosis pilaris atrophicans skos:exactMatch Orphanet:498 semapv:UnspecifiedMatching +obo:GARD_18695 Systemic lupus erythematosus skos:exactMatch Orphanet:536 semapv:UnspecifiedMatching +obo:GARD_18696 Toxic epidermal necrolysis skos:exactMatch Orphanet:537 semapv:UnspecifiedMatching +obo:GARD_18697 Primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch Orphanet:541 semapv:UnspecifiedMatching +obo:GARD_18698 Primary cutaneous lymphoma skos:exactMatch Orphanet:542 semapv:UnspecifiedMatching +obo:GARD_18699 Distal myopathy skos:exactMatch Orphanet:599 semapv:UnspecifiedMatching +obo:GARD_18700 Congenital primary megaureter skos:exactMatch Orphanet:617 semapv:UnspecifiedMatching +obo:GARD_18701 Non-histaminic angioedema skos:exactMatch Orphanet:658 semapv:UnspecifiedMatching +obo:GARD_18702 Plague skos:exactMatch Orphanet:707 semapv:UnspecifiedMatching +obo:GARD_18703 Pili bifurcati skos:exactMatch Orphanet:720 semapv:UnspecifiedMatching +obo:GARD_18704 Rare form of salmonellosis skos:exactMatch Orphanet:795 semapv:UnspecifiedMatching +obo:GARD_18705 Scleroderma skos:exactMatch Orphanet:801 semapv:UnspecifiedMatching +obo:GARD_18706 Congenital cervical spinal stenosis skos:exactMatch Orphanet:831 semapv:UnspecifiedMatching +obo:GARD_18707 Primitive portal vein thrombosis skos:exactMatch Orphanet:854 semapv:UnspecifiedMatching +obo:GARD_18708 Congenital toxoplasmosis skos:exactMatch Orphanet:858 semapv:UnspecifiedMatching +obo:GARD_18709 Primary adult heart tumor skos:exactMatch Orphanet:874 semapv:UnspecifiedMatching +obo:GARD_18710 Primary pediatric heart tumor skos:exactMatch Orphanet:875 semapv:UnspecifiedMatching +obo:GARD_18711 Extragonadal teratoma skos:exactMatch Orphanet:883 semapv:UnspecifiedMatching +obo:GARD_18712 Absence of the pulmonary artery skos:exactMatch Orphanet:980 semapv:UnspecifiedMatching +obo:GARD_18713 Alopecia antibody deficiency skos:exactMatch Orphanet:1006 semapv:UnspecifiedMatching +obo:GARD_18714 Sideroblastic anemia skos:exactMatch Orphanet:1047 semapv:UnspecifiedMatching +obo:GARD_18715 Isolated lissencephaly type 1 without known genetic defects skos:exactMatch Orphanet:1084 semapv:UnspecifiedMatching +obo:GARD_18716 Radial deficiency-tibial hypoplasia syndrome skos:exactMatch Orphanet:1121 semapv:UnspecifiedMatching +obo:GARD_18717 Abnormal origin of the pulmonary artery skos:exactMatch Orphanet:1138 semapv:UnspecifiedMatching +obo:GARD_18718 Autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:1172 semapv:UnspecifiedMatching +obo:GARD_18719 Mitochondrial DNA-related cardiomyopathy and hearing loss skos:exactMatch Orphanet:1349 semapv:UnspecifiedMatching +obo:GARD_1872 Diphallia skos:exactMatch Orphanet:227 semapv:UnspecifiedMatching +obo:GARD_18720 Isolated cerebellar agenesis skos:exactMatch Orphanet:1398 semapv:UnspecifiedMatching +obo:GARD_18721 Paroxysmal dyskinesia skos:exactMatch Orphanet:1431 semapv:UnspecifiedMatching +obo:GARD_18722 Autosomal dominant coarctation of aorta skos:exactMatch Orphanet:1455 semapv:UnspecifiedMatching +obo:GARD_18723 Atypical coarctation of aorta skos:exactMatch Orphanet:1456 semapv:UnspecifiedMatching +obo:GARD_18724 Criss-cross heart skos:exactMatch Orphanet:1461 semapv:UnspecifiedMatching +obo:GARD_18725 Univentricular heart skos:exactMatch Orphanet:1464 semapv:UnspecifiedMatching +obo:GARD_18726 Short rib-polydactyly syndrome skos:exactMatch Orphanet:1505 semapv:UnspecifiedMatching +obo:GARD_18727 Thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch Orphanet:1506 semapv:UnspecifiedMatching +obo:GARD_18728 Benign focal seizures of adolescence skos:exactMatch Orphanet:1544 semapv:UnspecifiedMatching +obo:GARD_18729 Non-distal monosomy 10q skos:exactMatch Orphanet:1581 semapv:UnspecifiedMatching +obo:GARD_18730 Deletion 5q35 skos:exactMatch Orphanet:1627 semapv:UnspecifiedMatching +obo:GARD_18731 Distal monosomy 7q36 skos:exactMatch Orphanet:1636 semapv:UnspecifiedMatching +obo:GARD_18732 Distal monosomy 9p skos:exactMatch Orphanet:1642 semapv:UnspecifiedMatching +obo:GARD_18733 Xp22.3 microdeletion syndrome skos:exactMatch Orphanet:1643 semapv:UnspecifiedMatching +obo:GARD_18734 Sporadic fetal brain disruption sequence skos:exactMatch Orphanet:1665 semapv:UnspecifiedMatching +obo:GARD_18735 Familial idiopathic dilatation of the right atrium skos:exactMatch Orphanet:1677 semapv:UnspecifiedMatching +obo:GARD_18736 Mosaic trisomy 1 skos:exactMatch Orphanet:1692 semapv:UnspecifiedMatching +obo:GARD_18737 Non-distal trisomy 10q skos:exactMatch Orphanet:1695 semapv:UnspecifiedMatching +obo:GARD_18738 Non-distal trisomy 13q skos:exactMatch Orphanet:1702 semapv:UnspecifiedMatching +obo:GARD_18739 Distal trisomy 14q skos:exactMatch Orphanet:1705 semapv:UnspecifiedMatching +obo:GARD_1874 Hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching +obo:GARD_1874 Hemolytic anemia due to diphosphoglycerate mutase deficiency skos:narrowMatch OMIM:222800 semapv:UnspecifiedMatching +obo:GARD_18740 Distal trisomy 15q skos:exactMatch Orphanet:1707 semapv:UnspecifiedMatching +obo:GARD_18741 Mosaic trisomy 16 skos:exactMatch Orphanet:1708 semapv:UnspecifiedMatching +obo:GARD_18742 Distal trisomy 18q skos:exactMatch Orphanet:1716 semapv:UnspecifiedMatching +obo:GARD_18743 Distal trisomy 19q skos:exactMatch Orphanet:1717 semapv:UnspecifiedMatching +obo:GARD_18744 Mosaic trisomy 20 skos:exactMatch Orphanet:1724 semapv:UnspecifiedMatching +obo:GARD_18745 Distal trisomy 6p skos:exactMatch Orphanet:1745 semapv:UnspecifiedMatching +obo:GARD_18746 Fibular dimelia-diplopodia syndrome skos:exactMatch Orphanet:1757 semapv:UnspecifiedMatching +obo:GARD_18747 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch Orphanet:1772 semapv:UnspecifiedMatching +obo:GARD_18748 Multicystic dysplastic kidney skos:exactMatch Orphanet:1851 semapv:UnspecifiedMatching +obo:GARD_18749 Focal, segmental or multifocal dystonia skos:exactMatch Orphanet:1866 semapv:UnspecifiedMatching +obo:GARD_1875 Diphtheria skos:exactMatch Orphanet:1679 semapv:UnspecifiedMatching +obo:GARD_18750 Fetal trimethadione syndrome skos:exactMatch Orphanet:1913 semapv:UnspecifiedMatching +obo:GARD_18751 Toluene embryopathy skos:exactMatch Orphanet:1920 semapv:UnspecifiedMatching +obo:GARD_18752 Rasmussen subacute encephalitis skos:exactMatch Orphanet:1929 semapv:UnspecifiedMatching +obo:GARD_18753 Frontal encephalocele skos:exactMatch Orphanet:1931 semapv:UnspecifiedMatching +obo:GARD_18754 Cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 semapv:UnspecifiedMatching +obo:GARD_18755 Cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch Orphanet:2003 semapv:UnspecifiedMatching +obo:GARD_18756 Median cleft lip/mandibule skos:exactMatch Orphanet:2006 semapv:UnspecifiedMatching +obo:GARD_18757 Filariasis skos:exactMatch Orphanet:2034 semapv:UnspecifiedMatching +obo:GARD_18758 Congenital systemic arteriovenous fistula skos:exactMatch Orphanet:2039 semapv:UnspecifiedMatching +obo:GARD_18759 Progressive non-infectious anterior vertebral fusion skos:exactMatch Orphanet:2062 semapv:UnspecifiedMatching +obo:GARD_1876 Diprosopus skos:exactMatch Orphanet:1681 semapv:UnspecifiedMatching +obo:GARD_18760 Dysmorphism-pectus carinatum-joint laxity syndrome skos:exactMatch Orphanet:2104 semapv:UnspecifiedMatching +obo:GARD_18761 Hemimelia skos:exactMatch Orphanet:2130 semapv:UnspecifiedMatching +obo:GARD_18762 Craniosynostosis, Herrmann-Opitz type skos:exactMatch Orphanet:2145 semapv:UnspecifiedMatching +obo:GARD_18763 Hypotrichosis-intellectual disability, Lopes type skos:exactMatch Orphanet:2266 semapv:UnspecifiedMatching +obo:GARD_18764 Dysmorphism-short stature-deafness-disorder of sex development syndrome skos:exactMatch Orphanet:2282 semapv:UnspecifiedMatching +obo:GARD_18765 Isotretinoin syndrome skos:exactMatch Orphanet:2305 semapv:UnspecifiedMatching +obo:GARD_18766 Epidermolysis bullosa simplex with anodontia/hypodontia skos:exactMatch Orphanet:2325 semapv:UnspecifiedMatching +obo:GARD_18767 Kallmann syndrome-heart disease syndrome skos:exactMatch Orphanet:2326 semapv:UnspecifiedMatching +obo:GARD_18768 Isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 semapv:UnspecifiedMatching +obo:GARD_18769 Congenital primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:2416 semapv:UnspecifiedMatching +obo:GARD_18770 Primary pulmonary lymphoma skos:exactMatch Orphanet:2420 semapv:UnspecifiedMatching +obo:GARD_18771 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 semapv:UnspecifiedMatching +obo:GARD_18772 Congenital pulmonary airway malformation skos:exactMatch Orphanet:2444 semapv:UnspecifiedMatching +obo:GARD_18773 Lower limb malformation-hypospadias syndrome skos:exactMatch Orphanet:2487 semapv:UnspecifiedMatching +obo:GARD_18774 Microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch Orphanet:2519 semapv:UnspecifiedMatching +obo:GARD_18775 Myalgia-eosinophilia syndrome associated with tryptophan skos:exactMatch Orphanet:2582 semapv:UnspecifiedMatching +obo:GARD_18776 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2653 semapv:UnspecifiedMatching +obo:GARD_18777 Adult familial nephronophthisis-spastic quadriparesia syndrome skos:exactMatch Orphanet:2666 semapv:UnspecifiedMatching +obo:GARD_18778 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:exactMatch Orphanet:2787 semapv:UnspecifiedMatching +obo:GARD_18779 Congenital pericardium anomaly skos:exactMatch Orphanet:2846 semapv:UnspecifiedMatching +obo:GARD_18780 Pericardial and diaphragmatic defect skos:exactMatch Orphanet:2847 semapv:UnspecifiedMatching +obo:GARD_18781 Hereditary acrokeratotic poikiloderma skos:exactMatch Orphanet:2907 semapv:UnspecifiedMatching +obo:GARD_18782 46,XX disorder of sex development-anorectal anomalies syndrome skos:exactMatch Orphanet:2973 semapv:UnspecifiedMatching +obo:GARD_18783 46,XX disorder of sex development skos:exactMatch Orphanet:2982 semapv:UnspecifiedMatching +obo:GARD_18784 Mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:exactMatch Orphanet:3004 semapv:UnspecifiedMatching +obo:GARD_18785 Congenital systemic veins anomaly skos:exactMatch Orphanet:3091 semapv:UnspecifiedMatching +obo:GARD_18786 Congenital aortic valve stenosis skos:exactMatch Orphanet:3093 semapv:UnspecifiedMatching +obo:GARD_18787 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:exactMatch Orphanet:3151 semapv:UnspecifiedMatching +obo:GARD_18788 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch Orphanet:3225 semapv:UnspecifiedMatching +obo:GARD_18789 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:exactMatch Orphanet:3240 semapv:UnspecifiedMatching +obo:GARD_18790 Disorder of plasmalogens biosynthesis skos:exactMatch Orphanet:3276 semapv:UnspecifiedMatching +obo:GARD_18791 Telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:exactMatch Orphanet:3293 semapv:UnspecifiedMatching +obo:GARD_18792 Tetrasomy 5p skos:exactMatch Orphanet:3309 semapv:UnspecifiedMatching +obo:GARD_18793 Toxocariasis skos:exactMatch Orphanet:3343 semapv:UnspecifiedMatching +obo:GARD_18794 Distal trisomy 17q skos:exactMatch Orphanet:3379 semapv:UnspecifiedMatching +obo:GARD_18795 American trypanosomiasis skos:exactMatch Orphanet:3386 semapv:UnspecifiedMatching +obo:GARD_18796 Neural tube defect skos:exactMatch Orphanet:3388 semapv:UnspecifiedMatching +obo:GARD_18797 Germ cell tumor skos:exactMatch Orphanet:3399 semapv:UnspecifiedMatching +obo:GARD_18798 Aorto-ventricular tunnel skos:exactMatch Orphanet:3400 semapv:UnspecifiedMatching +obo:GARD_18799 Protein S acquired deficiency skos:exactMatch Orphanet:26349 semapv:UnspecifiedMatching +obo:GARD_18800 Oral erosive lichen skos:exactMatch Orphanet:31142 semapv:UnspecifiedMatching +obo:GARD_18801 Hypoalphalipoproteinemia skos:exactMatch Orphanet:31153 semapv:UnspecifiedMatching +obo:GARD_18802 Hypobetalipoproteinemia skos:exactMatch Orphanet:31154 semapv:UnspecifiedMatching +obo:GARD_18803 Colchicine poisoning skos:exactMatch Orphanet:31824 semapv:UnspecifiedMatching +obo:GARD_18804 Methanol poisoning skos:exactMatch Orphanet:31825 semapv:UnspecifiedMatching +obo:GARD_18805 Ethylene glycol poisoning skos:exactMatch Orphanet:31826 semapv:UnspecifiedMatching +obo:GARD_18806 Paraquat poisoning skos:exactMatch Orphanet:31827 semapv:UnspecifiedMatching +obo:GARD_18807 Digitalis poisoning skos:exactMatch Orphanet:31828 semapv:UnspecifiedMatching +obo:GARD_18808 Bullous lichen planus skos:exactMatch Orphanet:33408 semapv:UnspecifiedMatching +obo:GARD_18809 Meningococcal meningitis skos:exactMatch Orphanet:33475 semapv:UnspecifiedMatching +obo:GARD_18810 Corneal dystrophy skos:exactMatch Orphanet:34533 semapv:UnspecifiedMatching +obo:GARD_18811 Severe disseminated cytomegalovirus infection in immunocompetent patients skos:exactMatch Orphanet:35062 semapv:UnspecifiedMatching +obo:GARD_18812 Fulminant viral hepatitis skos:exactMatch Orphanet:35063 semapv:UnspecifiedMatching +obo:GARD_18813 Epidermal nevus syndrome skos:exactMatch Orphanet:35125 semapv:UnspecifiedMatching +obo:GARD_18814 Mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 semapv:UnspecifiedMatching +obo:GARD_18815 Neurometabolic disorder due to serine deficiency skos:exactMatch Orphanet:35705 semapv:UnspecifiedMatching +obo:GARD_18816 Malignant sex cord stromal tumor of ovary skos:exactMatch Orphanet:35808 semapv:UnspecifiedMatching +obo:GARD_18817 Acute opioid poisoning skos:exactMatch Orphanet:35889 semapv:UnspecifiedMatching +obo:GARD_18818 Polymicrogyria skos:exactMatch Orphanet:35981 semapv:UnspecifiedMatching +obo:GARD_18819 Staphylococcal scarlet fever skos:exactMatch Orphanet:36235 semapv:UnspecifiedMatching +obo:GARD_18820 Bullous impetigo skos:exactMatch Orphanet:36237 semapv:UnspecifiedMatching +obo:GARD_18821 Staphylococcal necrotizing pneumonia skos:exactMatch Orphanet:36238 semapv:UnspecifiedMatching +obo:GARD_18822 Gastric linitis plastica skos:exactMatch Orphanet:36273 semapv:UnspecifiedMatching +obo:GARD_18823 Familial cervical artery dissection skos:exactMatch Orphanet:36382 semapv:UnspecifiedMatching +obo:GARD_18824 Autoimmune hypoparathyroidism skos:exactMatch Orphanet:36913 semapv:UnspecifiedMatching +obo:GARD_18825 Interstitial cystitis skos:exactMatch Orphanet:37202 semapv:UnspecifiedMatching +obo:GARD_18826 Acquired kinky hair syndrome skos:exactMatch Orphanet:37559 semapv:UnspecifiedMatching +obo:GARD_18827 Acitretin/etretinate embryopathy skos:exactMatch Orphanet:40366 semapv:UnspecifiedMatching +obo:GARD_18828 Serotonin syndrome skos:exactMatch Orphanet:43116 semapv:UnspecifiedMatching +obo:GARD_18829 Acute tricyclic antidepressant poisoning skos:exactMatch Orphanet:43117 semapv:UnspecifiedMatching +obo:GARD_1883 Dissecting cellulitis of the scalp skos:exactMatch Orphanet:345 semapv:UnspecifiedMatching +obo:GARD_1883 Dissecting cellulitis of the scalp skos:narrowMatch OMIM:260910 semapv:UnspecifiedMatching +obo:GARD_18830 Acute poisoning by drugs with membrane-stabilizing effect skos:exactMatch Orphanet:43119 semapv:UnspecifiedMatching +obo:GARD_18831 Idiopathic neonatal atrial flutter skos:exactMatch Orphanet:45452 semapv:UnspecifiedMatching +obo:GARD_18832 Incessant infant ventricular tachycardia skos:exactMatch Orphanet:45453 semapv:UnspecifiedMatching +obo:GARD_18833 Superficial pemphigus skos:exactMatch Orphanet:46485 semapv:UnspecifiedMatching +obo:GARD_18834 Linear IgA dermatosis skos:exactMatch Orphanet:46488 semapv:UnspecifiedMatching +obo:GARD_18835 Postinfectious vasculitis skos:exactMatch Orphanet:48435 semapv:UnspecifiedMatching +obo:GARD_18836 Embryonal carcinoma of the central nervous system skos:exactMatch Orphanet:48736 semapv:UnspecifiedMatching +obo:GARD_18837 Focal myositis skos:exactMatch Orphanet:48918 semapv:UnspecifiedMatching +obo:GARD_18838 Acquired purpura fulminans skos:exactMatch Orphanet:49566 semapv:UnspecifiedMatching +obo:GARD_18839 Lichen amyloidosis skos:exactMatch Orphanet:49804 semapv:UnspecifiedMatching +obo:GARD_18840 Microlissencephaly-micromelia syndrome skos:exactMatch Orphanet:50810 semapv:UnspecifiedMatching +obo:GARD_18841 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch Orphanet:50812 semapv:UnspecifiedMatching +obo:GARD_18842 Duane anomaly-myopathy-scoliosis syndrome skos:exactMatch Orphanet:50817 semapv:UnspecifiedMatching +obo:GARD_18843 Anterior cutaneous nerve entrapment syndrome skos:exactMatch Orphanet:51890 semapv:UnspecifiedMatching +obo:GARD_18844 Vasculitis skos:exactMatch Orphanet:52759 semapv:UnspecifiedMatching +obo:GARD_18845 Orbital leiomyoma skos:exactMatch Orphanet:52994 semapv:UnspecifiedMatching +obo:GARD_18846 Posterior cortical atrophy skos:exactMatch Orphanet:54247 semapv:UnspecifiedMatching +obo:GARD_18847 Hepatocellular adenoma skos:exactMatch Orphanet:54272 semapv:UnspecifiedMatching +obo:GARD_18848 Sarcocystosis skos:exactMatch Orphanet:54368 semapv:UnspecifiedMatching +obo:GARD_18849 Pneumococcal meningitis skos:exactMatch Orphanet:55655 semapv:UnspecifiedMatching +obo:GARD_18850 Carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:56044 semapv:UnspecifiedMatching +obo:GARD_18851 Human prion disease skos:exactMatch Orphanet:56970 semapv:UnspecifiedMatching +obo:GARD_18852 Cirrhotic cardiomyopathy skos:exactMatch Orphanet:57777 semapv:UnspecifiedMatching +obo:GARD_18853 Mazabraud syndrome skos:exactMatch Orphanet:57782 semapv:UnspecifiedMatching +obo:GARD_18854 Osteoblastoma skos:exactMatch Orphanet:58040 semapv:UnspecifiedMatching +obo:GARD_18855 Rhombencephalosynapsis skos:exactMatch Orphanet:59315 semapv:UnspecifiedMatching +obo:GARD_18856 Argyria skos:exactMatch Orphanet:60014 semapv:UnspecifiedMatching +obo:GARD_18857 Rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 semapv:UnspecifiedMatching +obo:GARD_18858 Paraneoplastic pemphigus skos:exactMatch Orphanet:63455 semapv:UnspecifiedMatching +obo:GARD_18859 Acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch Orphanet:64542 semapv:UnspecifiedMatching +obo:GARD_1886 Late-onset distal myopathy, Markesbery-Griggs type skos:exactMatch Orphanet:98912 semapv:UnspecifiedMatching +obo:GARD_1886 Late-onset distal myopathy, Markesbery-Griggs type skos:narrowMatch OMIM:609452 semapv:UnspecifiedMatching +obo:GARD_18860 Benign idiopathic neonatal seizures skos:exactMatch Orphanet:64545 semapv:UnspecifiedMatching +obo:GARD_18861 Oroya fever skos:exactMatch Orphanet:64692 semapv:UnspecifiedMatching +obo:GARD_18862 Trench fever skos:exactMatch Orphanet:64694 semapv:UnspecifiedMatching +obo:GARD_18863 Granulomatous mastitis skos:exactMatch Orphanet:64722 semapv:UnspecifiedMatching +obo:GARD_18864 Pulmonary blastoma skos:exactMatch Orphanet:64741 semapv:UnspecifiedMatching +obo:GARD_18865 Hepatoportal sclerosis skos:exactMatch Orphanet:64743 semapv:UnspecifiedMatching +obo:GARD_18866 IgG4-related thyroid disease skos:exactMatch Orphanet:64744 semapv:UnspecifiedMatching +obo:GARD_18867 Vaginal atresia skos:exactMatch Orphanet:65681 semapv:UnspecifiedMatching +obo:GARD_18868 Short fifth metacarpals-insulin resistance syndrome skos:exactMatch Orphanet:66518 semapv:UnspecifiedMatching +obo:GARD_18869 Sensorineural hearing loss-early graying-essential tremor syndrome skos:exactMatch Orphanet:66633 semapv:UnspecifiedMatching +obo:GARD_1887 Vocal cord and pharyngeal distal myopathy skos:exactMatch Orphanet:600 semapv:UnspecifiedMatching +obo:GARD_1887 Vocal cord and pharyngeal distal myopathy skos:narrowMatch OMIM:606070 semapv:UnspecifiedMatching +obo:GARD_18870 Mast cell sarcoma skos:exactMatch Orphanet:66661 semapv:UnspecifiedMatching +obo:GARD_18871 Extracutaneous mastocytoma skos:exactMatch Orphanet:66662 semapv:UnspecifiedMatching +obo:GARD_18872 Segmental odontomaxillary dysplasia skos:exactMatch Orphanet:67039 semapv:UnspecifiedMatching +obo:GARD_18873 Rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 semapv:UnspecifiedMatching +obo:GARD_18874 Rare chromosomal anomaly skos:exactMatch Orphanet:68335 semapv:UnspecifiedMatching +obo:GARD_18875 Rare genetic tumor skos:exactMatch Orphanet:68336 semapv:UnspecifiedMatching +obo:GARD_18876 Multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:68341 semapv:UnspecifiedMatching +obo:GARD_18877 Rare genetic skin disease skos:exactMatch Orphanet:68346 semapv:UnspecifiedMatching +obo:GARD_18878 Tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 semapv:UnspecifiedMatching +obo:GARD_18879 Rare sleep disorder skos:exactMatch Orphanet:68354 semapv:UnspecifiedMatching +obo:GARD_18880 Rare deafness skos:exactMatch Orphanet:68361 semapv:UnspecifiedMatching +obo:GARD_18881 Rare vascular disease skos:exactMatch Orphanet:68362 semapv:UnspecifiedMatching +obo:GARD_18882 Rare dystonia skos:exactMatch Orphanet:68363 semapv:UnspecifiedMatching +obo:GARD_18883 Hemoglobinopathy skos:exactMatch Orphanet:68364 semapv:UnspecifiedMatching +obo:GARD_18884 Lysosomal disease skos:exactMatch Orphanet:68366 semapv:UnspecifiedMatching +obo:GARD_18885 Peroxisomal disease skos:exactMatch Orphanet:68373 semapv:UnspecifiedMatching +obo:GARD_18886 Congenital limb malformation skos:exactMatch Orphanet:68378 semapv:UnspecifiedMatching +obo:GARD_18887 Mitochondrial disease skos:exactMatch Orphanet:68380 semapv:UnspecifiedMatching +obo:GARD_18888 Neuromuscular disease skos:exactMatch Orphanet:68381 semapv:UnspecifiedMatching +obo:GARD_18889 Rare constitutional aplastic anemia skos:exactMatch Orphanet:68383 semapv:UnspecifiedMatching +obo:GARD_18890 Neurometabolic disease skos:exactMatch Orphanet:68385 semapv:UnspecifiedMatching +obo:GARD_18891 Rare parkinsonian disorder skos:exactMatch Orphanet:68402 semapv:UnspecifiedMatching +obo:GARD_18892 Rare bone tumor skos:exactMatch Orphanet:68411 semapv:UnspecifiedMatching +obo:GARD_18893 Rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 semapv:UnspecifiedMatching +obo:GARD_18894 Vascular anomaly or angioma skos:exactMatch Orphanet:68419 semapv:UnspecifiedMatching +obo:GARD_18895 Dysostosis with brachydactyly skos:exactMatch Orphanet:69028 semapv:UnspecifiedMatching +obo:GARD_18896 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 semapv:UnspecifiedMatching +obo:GARD_18897 Bilateral acute depigmentation of the iris skos:exactMatch Orphanet:69736 semapv:UnspecifiedMatching +obo:GARD_18898 Circumscribed palmoplantar hypokeratosis skos:exactMatch Orphanet:69744 semapv:UnspecifiedMatching +obo:GARD_18899 Warty dyskeratoma skos:exactMatch Orphanet:69745 semapv:UnspecifiedMatching +obo:GARD_18900 Radiation proctitis skos:exactMatch Orphanet:70475 semapv:UnspecifiedMatching +obo:GARD_18901 Squamous cell carcinoma of the esophagus skos:exactMatch Orphanet:99977 semapv:UnspecifiedMatching +obo:GARD_18901 Squamous cell carcinoma of the esophagus skos:narrowMatch OMIM:133239 semapv:UnspecifiedMatching +obo:GARD_18902 Adult acute respiratory distress syndrome skos:exactMatch Orphanet:70578 semapv:UnspecifiedMatching +obo:GARD_18903 Congenital Epstein-Barr virus infection skos:exactMatch Orphanet:70596 semapv:UnspecifiedMatching +obo:GARD_18904 Rare pulmonary hypertension skos:exactMatch Orphanet:71198 semapv:UnspecifiedMatching +obo:GARD_18905 Rare hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 semapv:UnspecifiedMatching +obo:GARD_18906 Autoimmune thrombocytopenia skos:exactMatch Orphanet:71203 semapv:UnspecifiedMatching +obo:GARD_18907 Rare soft tissue tumor skos:exactMatch Orphanet:71209 semapv:UnspecifiedMatching +obo:GARD_18908 Retinal capillary malformation skos:exactMatch Orphanet:71213 semapv:UnspecifiedMatching +obo:GARD_18909 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:71267 semapv:UnspecifiedMatching +obo:GARD_1891 Distomatosis skos:exactMatch Orphanet:1685 semapv:UnspecifiedMatching +obo:GARD_18910 Silent sinus syndrome skos:exactMatch Orphanet:71276 semapv:UnspecifiedMatching +obo:GARD_18911 Rare central nervous system and retinal vascular disease skos:exactMatch Orphanet:71281 semapv:UnspecifiedMatching +obo:GARD_18912 Cancer-associated retinopathy skos:exactMatch Orphanet:71505 semapv:UnspecifiedMatching +obo:GARD_18913 Benign paroxysmal torticollis of infancy skos:exactMatch Orphanet:71518 semapv:UnspecifiedMatching +obo:GARD_18914 Psychogenic movement disorders skos:exactMatch Orphanet:71519 semapv:UnspecifiedMatching +obo:GARD_18915 Rare genetic neurological disorder skos:exactMatch Orphanet:71859 semapv:UnspecifiedMatching +obo:GARD_18916 Inherited retinal disorder skos:exactMatch Orphanet:71862 semapv:UnspecifiedMatching +obo:GARD_18917 Muscular channelopathy skos:exactMatch Orphanet:71864 semapv:UnspecifiedMatching +obo:GARD_18918 Intractable diarrhea of infancy skos:exactMatch Orphanet:73014 semapv:UnspecifiedMatching +obo:GARD_18919 Global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch Orphanet:73223 semapv:UnspecifiedMatching +obo:GARD_18920 Kidney tubulopathy-dilated cardiomyopathy syndrome skos:exactMatch Orphanet:73224 semapv:UnspecifiedMatching +obo:GARD_18921 Ossification anomalies-psychomotor developmental delay syndrome skos:exactMatch Orphanet:73230 semapv:UnspecifiedMatching +obo:GARD_18922 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:exactMatch Orphanet:73245 semapv:UnspecifiedMatching +obo:GARD_18923 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:73246 semapv:UnspecifiedMatching +obo:GARD_18924 Myiasis skos:exactMatch Orphanet:75110 semapv:UnspecifiedMatching +obo:GARD_18925 Oligocone trichromacy skos:exactMatch Orphanet:75378 semapv:UnspecifiedMatching +obo:GARD_18926 Brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch Orphanet:75389 semapv:UnspecifiedMatching +obo:GARD_18927 Angioosteohypotrophic syndrome skos:exactMatch Orphanet:75508 semapv:UnspecifiedMatching +obo:GARD_18928 Tropical endomyocardial fibrosis skos:exactMatch Orphanet:75565 semapv:UnspecifiedMatching +obo:GARD_18929 Loeffler endocarditis skos:exactMatch Orphanet:75566 semapv:UnspecifiedMatching +obo:GARD_18930 Primary progressive freezing gait skos:exactMatch Orphanet:75567 semapv:UnspecifiedMatching +obo:GARD_18931 6q terminal deletion syndrome skos:exactMatch Orphanet:75857 semapv:UnspecifiedMatching +obo:GARD_18932 Primary lymphedema skos:exactMatch Orphanet:77240 semapv:UnspecifiedMatching +obo:GARD_18933 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:exactMatch Orphanet:77300 semapv:UnspecifiedMatching +obo:GARD_18934 Monosomy 9q22.3 skos:exactMatch Orphanet:77301 semapv:UnspecifiedMatching +obo:GARD_18935 Genetic obesity skos:exactMatch Orphanet:77828 semapv:UnspecifiedMatching +obo:GARD_18936 Rare genetic odontologic disease skos:exactMatch Orphanet:77830 semapv:UnspecifiedMatching +obo:GARD_18937 Disorder of amino acid and other organic acid metabolism skos:exactMatch Orphanet:79062 semapv:UnspecifiedMatching +obo:GARD_18938 Folinic acid-responsive seizures skos:exactMatch Orphanet:79097 semapv:UnspecifiedMatching +obo:GARD_18939 Sympathetic ophthalmia skos:exactMatch Orphanet:79098 semapv:UnspecifiedMatching +obo:GARD_1894 Von Voss-Cherstvoy syndrome skos:exactMatch Orphanet:3439 semapv:UnspecifiedMatching +obo:GARD_1894 Von Voss-Cherstvoy syndrome skos:narrowMatch OMIM:223340 semapv:UnspecifiedMatching +obo:GARD_18940 Interstitial granulomatous dermatitis with arthritis skos:exactMatch Orphanet:79099 semapv:UnspecifiedMatching +obo:GARD_18941 Myxofibrosarcoma skos:exactMatch Orphanet:79105 semapv:UnspecifiedMatching +obo:GARD_18942 Respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch Orphanet:79127 semapv:UnspecifiedMatching +obo:GARD_18943 Trichodysplasia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:79129 semapv:UnspecifiedMatching +obo:GARD_18944 Bickerstaff brainstem encephalitis skos:exactMatch Orphanet:79138 semapv:UnspecifiedMatching +obo:GARD_18945 Cerebral organic aciduria skos:exactMatch Orphanet:79158 semapv:UnspecifiedMatching +obo:GARD_18946 Disorder of carbohydrate metabolism skos:exactMatch Orphanet:79161 semapv:UnspecifiedMatching +obo:GARD_18947 Classic organic aciduria skos:exactMatch Orphanet:79163 semapv:UnspecifiedMatching +obo:GARD_18948 Disorder of amino acid absorption and transport skos:exactMatch Orphanet:79166 semapv:UnspecifiedMatching +obo:GARD_18949 Disorder of bile acid synthesis skos:exactMatch Orphanet:79168 semapv:UnspecifiedMatching +obo:GARD_18950 Disorder of neurotransmitter metabolism and transport skos:exactMatch Orphanet:79169 semapv:UnspecifiedMatching +obo:GARD_18951 Disorder of cobalamin metabolism and transport skos:exactMatch Orphanet:79171 semapv:UnspecifiedMatching +obo:GARD_18952 Creatine deficiency syndrome skos:exactMatch Orphanet:79172 semapv:UnspecifiedMatching +obo:GARD_18953 Disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch Orphanet:79173 semapv:UnspecifiedMatching +obo:GARD_18954 Disorder of fatty acid oxidation and ketone body metabolism skos:exactMatch Orphanet:79174 semapv:UnspecifiedMatching +obo:GARD_18955 Disorder of gamma-aminobutyric acid metabolism skos:exactMatch Orphanet:79175 semapv:UnspecifiedMatching +obo:GARD_18956 Gluconeogenesis disorder skos:exactMatch Orphanet:79177 semapv:UnspecifiedMatching +obo:GARD_18957 Glucose transport disorder skos:exactMatch Orphanet:79178 semapv:UnspecifiedMatching +obo:GARD_18958 Disorder of glycerol metabolism skos:exactMatch Orphanet:79179 semapv:UnspecifiedMatching +obo:GARD_18959 Disorder of histidine metabolism skos:exactMatch Orphanet:79181 semapv:UnspecifiedMatching +obo:GARD_1896 Cleft palate skos:exactMatch Orphanet:2014 semapv:UnspecifiedMatching +obo:GARD_1896 Cleft palate skos:narrowMatch OMIM:119540 semapv:UnspecifiedMatching +obo:GARD_18960 Disorder of ketolysis skos:exactMatch Orphanet:79183 semapv:UnspecifiedMatching +obo:GARD_18961 Disorder of ornithine or proline metabolism skos:exactMatch Orphanet:79185 semapv:UnspecifiedMatching +obo:GARD_18962 Disorder of pentose phosphate metabolism skos:exactMatch Orphanet:79186 semapv:UnspecifiedMatching +obo:GARD_18963 Disorder of peptide metabolism skos:exactMatch Orphanet:79187 semapv:UnspecifiedMatching +obo:GARD_18964 Disorder of phenylalanin or tyrosine metabolism skos:exactMatch Orphanet:79190 semapv:UnspecifiedMatching +obo:GARD_18965 Disorder of purine metabolism skos:exactMatch Orphanet:79191 semapv:UnspecifiedMatching +obo:GARD_18966 Disorder of pyridoxine metabolism skos:exactMatch Orphanet:79192 semapv:UnspecifiedMatching +obo:GARD_18967 Disorder of pyrimidine metabolism skos:exactMatch Orphanet:79193 semapv:UnspecifiedMatching +obo:GARD_18968 Disorder of serine or glycine metabolism skos:exactMatch Orphanet:79194 semapv:UnspecifiedMatching +obo:GARD_18969 Sterol biosynthesis disorder skos:exactMatch Orphanet:79195 semapv:UnspecifiedMatching +obo:GARD_18970 Disorder of the gamma-glutamyl cycle skos:exactMatch Orphanet:79196 semapv:UnspecifiedMatching +obo:GARD_18971 Disorder of branched-chain amino acid metabolism skos:exactMatch Orphanet:79197 semapv:UnspecifiedMatching +obo:GARD_18972 Disorder of energy metabolism skos:exactMatch Orphanet:79200 semapv:UnspecifiedMatching +obo:GARD_18973 Glycogen storage disease skos:exactMatch Orphanet:79201 semapv:UnspecifiedMatching +obo:GARD_18974 Disorder of lysosomal amino acid transport skos:exactMatch Orphanet:79207 semapv:UnspecifiedMatching +obo:GARD_18975 Mucolipidosis skos:exactMatch Orphanet:79212 semapv:UnspecifiedMatching +obo:GARD_18976 Disorder of biogenic amine metabolism and transport skos:exactMatch Orphanet:79214 semapv:UnspecifiedMatching +obo:GARD_18977 Oligosaccharidosis skos:exactMatch Orphanet:79215 semapv:UnspecifiedMatching +obo:GARD_18978 Other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 semapv:UnspecifiedMatching +obo:GARD_18979 Metabolic disease involving other neurotransmitter deficiency skos:exactMatch Orphanet:79219 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:exactMatch Orphanet:98995 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:narrowMatch OMIM:116400 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:narrowMatch OMIM:605728 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:narrowMatch OMIM:607304 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:narrowMatch OMIM:609376 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:narrowMatch OMIM:610019 semapv:UnspecifiedMatching +obo:GARD_1898 Early-onset zonular cataract skos:narrowMatch OMIM:613763 semapv:UnspecifiedMatching +obo:GARD_18980 Disorder of purine or pyrimidine metabolism skos:exactMatch Orphanet:79224 semapv:UnspecifiedMatching +obo:GARD_18981 Sterol metabolism disorder skos:exactMatch Orphanet:79226 semapv:UnspecifiedMatching +obo:GARD_18982 Classic phenylketonuria skos:exactMatch Orphanet:79254 semapv:UnspecifiedMatching +obo:GARD_18983 Diazoxide-resistant focal hyperinsulinism skos:exactMatch Orphanet:79298 semapv:UnspecifiedMatching +obo:GARD_18984 Epidermal disease skos:exactMatch Orphanet:79353 semapv:UnspecifiedMatching +obo:GARD_18985 Ichthyosis skos:exactMatch Orphanet:79354 semapv:UnspecifiedMatching +obo:GARD_18986 Erythrokeratoderma skos:exactMatch Orphanet:79355 semapv:UnspecifiedMatching +obo:GARD_18987 Acrokeratoderma skos:exactMatch Orphanet:79356 semapv:UnspecifiedMatching +obo:GARD_18988 Hereditary palmoplantar keratoderma skos:exactMatch Orphanet:79357 semapv:UnspecifiedMatching +obo:GARD_18989 Porokeratosis skos:exactMatch Orphanet:79358 semapv:UnspecifiedMatching +obo:GARD_1899 Donnai-Barrow syndrome skos:exactMatch Orphanet:2143 semapv:UnspecifiedMatching +obo:GARD_1899 Donnai-Barrow syndrome skos:narrowMatch OMIM:222448 semapv:UnspecifiedMatching +obo:GARD_18990 Other epidermal disorder skos:exactMatch Orphanet:79359 semapv:UnspecifiedMatching +obo:GARD_18991 Other genetic epidermal disease skos:exactMatch Orphanet:79360 semapv:UnspecifiedMatching +obo:GARD_18992 Inherited epidermolysis bullosa skos:exactMatch Orphanet:79361 semapv:UnspecifiedMatching +obo:GARD_18993 Epidermal appendage anomaly skos:exactMatch Orphanet:79362 semapv:UnspecifiedMatching +obo:GARD_18994 Hair anomaly skos:exactMatch Orphanet:79363 semapv:UnspecifiedMatching +obo:GARD_18995 Alopecia skos:exactMatch Orphanet:79364 semapv:UnspecifiedMatching +obo:GARD_18996 Rare disorder with hypertrichosis skos:exactMatch Orphanet:79365 semapv:UnspecifiedMatching +obo:GARD_18997 Isolated hair shaft abnormality skos:exactMatch Orphanet:79366 semapv:UnspecifiedMatching +obo:GARD_18998 Syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 semapv:UnspecifiedMatching +obo:GARD_18999 Nail anomaly skos:exactMatch Orphanet:79368 semapv:UnspecifiedMatching +obo:GARD_19 Dihydropyrimidine dehydrogenase deficiency skos:exactMatch Orphanet:1675 semapv:UnspecifiedMatching +obo:GARD_19 Dihydropyrimidine dehydrogenase deficiency skos:narrowMatch OMIM:274270 semapv:UnspecifiedMatching +obo:GARD_19000 Isolated nail anomaly skos:exactMatch Orphanet:79369 semapv:UnspecifiedMatching +obo:GARD_19001 Syndromic nail anomaly skos:exactMatch Orphanet:79370 semapv:UnspecifiedMatching +obo:GARD_19002 Sebaceous gland anomaly skos:exactMatch Orphanet:79372 semapv:UnspecifiedMatching +obo:GARD_19003 Pigmentation anomaly of the skin skos:exactMatch Orphanet:79374 semapv:UnspecifiedMatching +obo:GARD_19004 Hyperpigmentation of the skin skos:exactMatch Orphanet:79375 semapv:UnspecifiedMatching +obo:GARD_19005 Hypopigmentation of the skin skos:exactMatch Orphanet:79376 semapv:UnspecifiedMatching +obo:GARD_19006 Dermis disorder skos:exactMatch Orphanet:79377 semapv:UnspecifiedMatching +obo:GARD_19007 Dermis elastic tissue disorder skos:exactMatch Orphanet:79378 semapv:UnspecifiedMatching +obo:GARD_19008 Skin vascular disease skos:exactMatch Orphanet:79379 semapv:UnspecifiedMatching +obo:GARD_19009 Mixed dermis disorder skos:exactMatch Orphanet:79380 semapv:UnspecifiedMatching +obo:GARD_19010 Other dermis disorder skos:exactMatch Orphanet:79381 semapv:UnspecifiedMatching +obo:GARD_19011 Subcutaneous tissue disease skos:exactMatch Orphanet:79382 semapv:UnspecifiedMatching +obo:GARD_19012 Rare urticaria skos:exactMatch Orphanet:79384 semapv:UnspecifiedMatching +obo:GARD_19013 Unclassified genetic skin disorder skos:exactMatch Orphanet:79385 semapv:UnspecifiedMatching +obo:GARD_19014 Rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 semapv:UnspecifiedMatching +obo:GARD_19015 Metabolic disease with skin involvement skos:exactMatch Orphanet:79387 semapv:UnspecifiedMatching +obo:GARD_19016 Mucopolysaccharidosis with skin involvement skos:exactMatch Orphanet:79388 semapv:UnspecifiedMatching +obo:GARD_19017 Premature aging skos:exactMatch Orphanet:79389 semapv:UnspecifiedMatching +obo:GARD_19018 Rare photodermatosis skos:exactMatch Orphanet:79390 semapv:UnspecifiedMatching +obo:GARD_19019 Immune deficiency with skin involvement skos:exactMatch Orphanet:79391 semapv:UnspecifiedMatching +obo:GARD_1902 Autosomal recessive dopa-responsive dystonia skos:exactMatch Orphanet:101150 semapv:UnspecifiedMatching +obo:GARD_1902 Autosomal recessive dopa-responsive dystonia skos:narrowMatch OMIM:605407 semapv:UnspecifiedMatching +obo:GARD_19020 Verrucous nevus skos:exactMatch Orphanet:79467 semapv:UnspecifiedMatching +obo:GARD_19021 Pemphigus vegetans skos:exactMatch Orphanet:79479 semapv:UnspecifiedMatching +obo:GARD_19022 Pemphigus erythematosus skos:exactMatch Orphanet:79480 semapv:UnspecifiedMatching +obo:GARD_19023 Phakomatosis cesioflammea skos:exactMatch Orphanet:79483 semapv:UnspecifiedMatching +obo:GARD_19024 Phakomatosis cesiomarmorata skos:exactMatch Orphanet:79484 semapv:UnspecifiedMatching +obo:GARD_19025 Phakomatosis spilorosea skos:exactMatch Orphanet:79485 semapv:UnspecifiedMatching +obo:GARD_19026 Pili gemini skos:exactMatch Orphanet:79492 semapv:UnspecifiedMatching +obo:GARD_19027 Mild hyperphenylalaninemia skos:exactMatch Orphanet:79651 semapv:UnspecifiedMatching +obo:GARD_19028 Autoimmune bullous skin disease skos:exactMatch Orphanet:79669 semapv:UnspecifiedMatching +obo:GARD_19029 Urogenital tract malformation skos:exactMatch Orphanet:83001 semapv:UnspecifiedMatching +obo:GARD_1903 Dopamine beta-hydroxylase deficiency skos:exactMatch Orphanet:230 semapv:UnspecifiedMatching +obo:GARD_1903 Dopamine beta-hydroxylase deficiency skos:narrowMatch OMIM:223360 semapv:UnspecifiedMatching +obo:GARD_19030 Rickettsialpox skos:exactMatch Orphanet:83312 semapv:UnspecifiedMatching +obo:GARD_19031 Boutonneuse fever skos:exactMatch Orphanet:83313 semapv:UnspecifiedMatching +obo:GARD_19032 Epidemic typhus skos:exactMatch Orphanet:83314 semapv:UnspecifiedMatching +obo:GARD_19033 Murine typhus skos:exactMatch Orphanet:83315 semapv:UnspecifiedMatching +obo:GARD_19034 Pseudotyphus of California skos:exactMatch Orphanet:83316 semapv:UnspecifiedMatching +obo:GARD_19035 Scrub typhus skos:exactMatch Orphanet:83317 semapv:UnspecifiedMatching +obo:GARD_19036 Regional odontodysplasia skos:exactMatch Orphanet:83450 semapv:UnspecifiedMatching +obo:GARD_19037 Vulvovaginal gingival syndrome skos:exactMatch Orphanet:83453 semapv:UnspecifiedMatching +obo:GARD_19038 Narcolepsy type 2 skos:exactMatch Orphanet:83465 semapv:UnspecifiedMatching +obo:GARD_19039 Solitary bone cyst skos:exactMatch Orphanet:83468 semapv:UnspecifiedMatching +obo:GARD_1904 Subcortical band heterotopia skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching +obo:GARD_1904 Subcortical band heterotopia skos:narrowMatch OMIM:300067 semapv:UnspecifiedMatching +obo:GARD_1904 Subcortical band heterotopia skos:narrowMatch OMIM:600348 semapv:UnspecifiedMatching +obo:GARD_1904 Subcortical band heterotopia skos:narrowMatch OMIM:607432 semapv:UnspecifiedMatching +obo:GARD_19040 Mycoplasma encephalitis skos:exactMatch Orphanet:83482 semapv:UnspecifiedMatching +obo:GARD_19041 St. Louis encephalitis skos:exactMatch Orphanet:83484 semapv:UnspecifiedMatching +obo:GARD_19042 Colorado tick fever skos:exactMatch Orphanet:83595 semapv:UnspecifiedMatching +obo:GARD_19043 Rubella panencephalitis skos:exactMatch Orphanet:83616 semapv:UnspecifiedMatching +obo:GARD_19044 Macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:exactMatch Orphanet:83619 semapv:UnspecifiedMatching +obo:GARD_19045 LUMBAR syndrome skos:exactMatch Orphanet:83628 semapv:UnspecifiedMatching +obo:GARD_19046 Idiopathic malabsorption due to bile acid synthesis defects skos:exactMatch Orphanet:84065 semapv:UnspecifiedMatching +obo:GARD_19047 Hinman syndrome skos:exactMatch Orphanet:84085 semapv:UnspecifiedMatching +obo:GARD_19048 Collagen type III glomerulopathy skos:exactMatch Orphanet:84087 semapv:UnspecifiedMatching +obo:GARD_19049 Craniofacial conodysplasia skos:exactMatch Orphanet:85168 semapv:UnspecifiedMatching +obo:GARD_19050 Astley-Kendall dysplasia skos:exactMatch Orphanet:85175 semapv:UnspecifiedMatching +obo:GARD_19051 Dysspondyloenchondromatosis skos:exactMatch Orphanet:85198 semapv:UnspecifiedMatching +obo:GARD_19052 Ischiovertebral syndrome skos:exactMatch Orphanet:85200 semapv:UnspecifiedMatching +obo:GARD_19053 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:exactMatch Orphanet:85317 semapv:UnspecifiedMatching +obo:GARD_19054 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:exactMatch Orphanet:85319 semapv:UnspecifiedMatching +obo:GARD_19055 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch Orphanet:85320 semapv:UnspecifiedMatching +obo:GARD_19056 X-linked intellectual disability, Pai type skos:exactMatch Orphanet:85322 semapv:UnspecifiedMatching +obo:GARD_19057 X-linked intellectual disability, Seemanova type skos:exactMatch Orphanet:85323 semapv:UnspecifiedMatching +obo:GARD_19058 X-linked intellectual disability, Stevenson type skos:exactMatch Orphanet:85325 semapv:UnspecifiedMatching +obo:GARD_19059 X-linked intellectual disability, Stoll type skos:exactMatch Orphanet:85326 semapv:UnspecifiedMatching +obo:GARD_19060 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch Orphanet:85327 semapv:UnspecifiedMatching +obo:GARD_19061 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch Orphanet:85334 semapv:UnspecifiedMatching +obo:GARD_19062 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch Orphanet:85336 semapv:UnspecifiedMatching +obo:GARD_19063 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch Orphanet:85338 semapv:UnspecifiedMatching +obo:GARD_19064 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85435 semapv:UnspecifiedMatching +obo:GARD_19065 Wild type ABeta2M amyloidosis skos:exactMatch Orphanet:85446 semapv:UnspecifiedMatching +obo:GARD_19066 Atypical lichen myxedematosus skos:exactMatch Orphanet:86797 semapv:UnspecifiedMatching +obo:GARD_19067 Lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch Orphanet:86821 semapv:UnspecifiedMatching +obo:GARD_19068 Lissencephaly with cerebellar hypoplasia skos:exactMatch Orphanet:86823 semapv:UnspecifiedMatching +obo:GARD_19069 Refractory cytopenia with multilineage dysplasia skos:exactMatch Orphanet:86836 semapv:UnspecifiedMatching +obo:GARD_1907 Double outlet left ventricle skos:exactMatch Orphanet:3427 semapv:UnspecifiedMatching +obo:GARD_19070 Refractory anemia with excess blasts skos:exactMatch Orphanet:86839 semapv:UnspecifiedMatching +obo:GARD_19071 Acute basophilic leukemia skos:exactMatch Orphanet:86849 semapv:UnspecifiedMatching +obo:GARD_19072 Splenic marginal zone lymphoma skos:exactMatch Orphanet:86854 semapv:UnspecifiedMatching +obo:GARD_19073 Non-amyloid monoclonal immunoglobulin deposition disease skos:exactMatch Orphanet:86861 semapv:UnspecifiedMatching +obo:GARD_19074 Heavy chain disease skos:exactMatch Orphanet:86864 semapv:UnspecifiedMatching +obo:GARD_19075 Nodal marginal zone B-cell lymphoma skos:exactMatch Orphanet:86867 semapv:UnspecifiedMatching +obo:GARD_19076 Adult T-cell leukemia/lymphoma skos:exactMatch Orphanet:86875 semapv:UnspecifiedMatching +obo:GARD_19077 Hepatosplenic T-cell lymphoma skos:exactMatch Orphanet:86882 semapv:UnspecifiedMatching +obo:GARD_19078 Primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch Orphanet:86885 semapv:UnspecifiedMatching +obo:GARD_19079 Nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch Orphanet:86893 semapv:UnspecifiedMatching +obo:GARD_1908 Double outlet right ventricle skos:exactMatch Orphanet:3426 semapv:UnspecifiedMatching +obo:GARD_1908 Double outlet right ventricle skos:narrowMatch OMIM:217095 semapv:UnspecifiedMatching +obo:GARD_19080 Histiocytic sarcoma skos:exactMatch Orphanet:86896 semapv:UnspecifiedMatching +obo:GARD_19081 Follicular dendritic cell sarcoma skos:exactMatch Orphanet:86902 semapv:UnspecifiedMatching +obo:GARD_19082 Dendritic cell sarcoma not otherwise specified skos:exactMatch Orphanet:86903 semapv:UnspecifiedMatching +obo:GARD_19083 Methotrexate-associated lymphoproliferative disorders skos:exactMatch Orphanet:86904 semapv:UnspecifiedMatching +obo:GARD_19084 Hypothalamic hamartomas with gelastic seizures skos:exactMatch Orphanet:86906 semapv:UnspecifiedMatching +obo:GARD_19085 Idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch Orphanet:86908 semapv:UnspecifiedMatching +obo:GARD_19086 Myoclonic epilepsy of infancy skos:exactMatch Orphanet:86909 semapv:UnspecifiedMatching +obo:GARD_19087 Epilepsy with myoclonic absences skos:exactMatch Orphanet:86911 semapv:UnspecifiedMatching +obo:GARD_19088 Myoclonic epilepsy in non-progressive encephalopathies skos:exactMatch Orphanet:86913 semapv:UnspecifiedMatching +obo:GARD_19089 Diffuse palmoplantar keratoderma-acrocyanosis syndrome skos:exactMatch Orphanet:86918 semapv:UnspecifiedMatching +obo:GARD_19090 Rare intellectual disability skos:exactMatch Orphanet:87277 semapv:UnspecifiedMatching +obo:GARD_19091 Non-syndromic genetic deafness skos:exactMatch Orphanet:87884 semapv:UnspecifiedMatching +obo:GARD_19092 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch Orphanet:88643 semapv:UnspecifiedMatching +obo:GARD_19093 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor skos:exactMatch Orphanet:88660 semapv:UnspecifiedMatching +obo:GARD_19094 Rare congenital non-syndromic heart malformation skos:exactMatch Orphanet:88991 semapv:UnspecifiedMatching +obo:GARD_19095 Esophageal malformation skos:exactMatch Orphanet:88993 semapv:UnspecifiedMatching +obo:GARD_19096 Rare dementia skos:exactMatch Orphanet:89043 semapv:UnspecifiedMatching +obo:GARD_19097 Undifferentiated connective tissue syndrome skos:exactMatch Orphanet:90002 semapv:UnspecifiedMatching +obo:GARD_19098 Inflammatory pseudotumor of the liver skos:exactMatch Orphanet:90003 semapv:UnspecifiedMatching +obo:GARD_19099 Radiation myelitis skos:exactMatch Orphanet:90021 semapv:UnspecifiedMatching +obo:GARD_1910 Double uterus-hemivagina-renal agenesis syndrome skos:exactMatch Orphanet:3411 semapv:UnspecifiedMatching +obo:GARD_1910 Double uterus-hemivagina-renal agenesis syndrome skos:narrowMatch OMIM:192050 semapv:UnspecifiedMatching +obo:GARD_19100 Non-syndromic syndactyly skos:exactMatch Orphanet:90025 semapv:UnspecifiedMatching +obo:GARD_19101 Mixed-type autoimmune hemolytic anemia skos:exactMatch Orphanet:90036 semapv:UnspecifiedMatching +obo:GARD_19102 Drug-induced autoimmune hemolytic anemia skos:exactMatch Orphanet:90037 semapv:UnspecifiedMatching +obo:GARD_19103 Hemoglobin D disease skos:exactMatch Orphanet:90039 semapv:UnspecifiedMatching +obo:GARD_19104 Gaisböck syndrome skos:exactMatch Orphanet:90041 semapv:UnspecifiedMatching +obo:GARD_19105 Sepsis in premature infants skos:exactMatch Orphanet:90051 semapv:UnspecifiedMatching +obo:GARD_19106 Recurrent hepatitis C virus induced liver disease in liver transplant recipients skos:exactMatch Orphanet:90052 semapv:UnspecifiedMatching +obo:GARD_19107 Complications after hematopoietic stem cell transplantation skos:exactMatch Orphanet:90053 semapv:UnspecifiedMatching +obo:GARD_19108 Moderate and severe traumatic brain injury skos:exactMatch Orphanet:90056 semapv:UnspecifiedMatching +obo:GARD_19109 Spinal cord injury skos:exactMatch Orphanet:90058 semapv:UnspecifiedMatching +obo:GARD_19110 Diffuse alveolar hemorrhage skos:exactMatch Orphanet:90060 semapv:UnspecifiedMatching +obo:GARD_19111 Non-infectious posterior uveitis skos:exactMatch Orphanet:90061 semapv:UnspecifiedMatching +obo:GARD_19112 Acute liver failure skos:exactMatch Orphanet:90062 semapv:UnspecifiedMatching +obo:GARD_19113 Acute peripheral arterial occlusion skos:exactMatch Orphanet:90064 semapv:UnspecifiedMatching +obo:GARD_19114 Acquired aneurysmal subarachnoid hemorrhage skos:exactMatch Orphanet:90065 semapv:UnspecifiedMatching +obo:GARD_19115 Cocaine intoxication skos:exactMatch Orphanet:90068 semapv:UnspecifiedMatching +obo:GARD_19116 Systemic monochloroacetate poisoning skos:exactMatch Orphanet:90069 semapv:UnspecifiedMatching +obo:GARD_19117 Hepatitis B reinfection following liver transplantation skos:exactMatch Orphanet:90073 semapv:UnspecifiedMatching +obo:GARD_19118 Partial deep dermal and full thickness burns skos:exactMatch Orphanet:90076 semapv:UnspecifiedMatching +obo:GARD_19119 Other acquired skin disease skos:exactMatch Orphanet:90077 semapv:UnspecifiedMatching +obo:GARD_1912 Familial drusen skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching +obo:GARD_1912 Familial drusen skos:narrowMatch OMIM:126600 semapv:UnspecifiedMatching +obo:GARD_1912 Familial drusen skos:narrowMatch OMIM:126700 semapv:UnspecifiedMatching +obo:GARD_19120 Invasive infections due to vancomycin-resistant enterococci skos:exactMatch Orphanet:90078 semapv:UnspecifiedMatching +obo:GARD_19121 Scarring in glaucoma filtration surgical procedures skos:exactMatch Orphanet:90080 semapv:UnspecifiedMatching +obo:GARD_19122 AIDS wasting syndrome skos:exactMatch Orphanet:90081 semapv:UnspecifiedMatching +obo:GARD_19123 Severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch Orphanet:90118 semapv:UnspecifiedMatching +obo:GARD_19124 Hereditary motor and sensory neuropathy with acrodystrophy skos:exactMatch Orphanet:90119 semapv:UnspecifiedMatching +obo:GARD_19125 Centrifugal lipodystrophy skos:exactMatch Orphanet:90156 semapv:UnspecifiedMatching +obo:GARD_19126 Drug-induced localized lipodystrophy skos:exactMatch Orphanet:90157 semapv:UnspecifiedMatching +obo:GARD_19127 Idiopathic localized lipodystrophy skos:exactMatch Orphanet:90158 semapv:UnspecifiedMatching +obo:GARD_19128 Panniculitis-induced localized lipodystrophy skos:exactMatch Orphanet:90159 semapv:UnspecifiedMatching +obo:GARD_19129 Pressure-induced localized lipoatrophy skos:exactMatch Orphanet:90160 semapv:UnspecifiedMatching +obo:GARD_19130 Chilblain lupus skos:exactMatch Orphanet:90280 semapv:UnspecifiedMatching +obo:GARD_19131 Discoid lupus erythematosus skos:exactMatch Orphanet:90281 semapv:UnspecifiedMatching +obo:GARD_19132 Hypertrophic or verrucous lupus erythematosus skos:exactMatch Orphanet:90282 semapv:UnspecifiedMatching +obo:GARD_19133 Lupus erythematosus panniculitis skos:exactMatch Orphanet:90285 semapv:UnspecifiedMatching +obo:GARD_19134 Autosomal recessive cutis laxa type 2 skos:exactMatch Orphanet:90350 semapv:UnspecifiedMatching +obo:GARD_19135 Secondary intestinal lymphangiectasia skos:exactMatch Orphanet:90363 semapv:UnspecifiedMatching +obo:GARD_19136 Telangiectasia macularis eruptiva perstans skos:exactMatch Orphanet:90389 semapv:UnspecifiedMatching +obo:GARD_19137 Nodular lichen myxedematosus skos:exactMatch Orphanet:90393 semapv:UnspecifiedMatching +obo:GARD_19138 Discrete papular lichen myxedematosus skos:exactMatch Orphanet:90394 semapv:UnspecifiedMatching +obo:GARD_19139 Papular mucinosis of infancy skos:exactMatch Orphanet:90395 semapv:UnspecifiedMatching +obo:GARD_19140 Acral persistent papular mucinosis skos:exactMatch Orphanet:90396 semapv:UnspecifiedMatching +obo:GARD_19141 Self-healing papular mucinosis skos:exactMatch Orphanet:90397 semapv:UnspecifiedMatching +obo:GARD_19142 Localized lichen myxedematosus with mixed features of different subtypes skos:exactMatch Orphanet:90398 semapv:UnspecifiedMatching +obo:GARD_19143 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:exactMatch Orphanet:90399 semapv:UnspecifiedMatching +obo:GARD_19144 Scleromyxedema without monoclonal gammopathy skos:exactMatch Orphanet:90400 semapv:UnspecifiedMatching +obo:GARD_19145 Syndromic genetic deafness skos:exactMatch Orphanet:90642 semapv:UnspecifiedMatching +obo:GARD_19146 Rare endocrine growth disease skos:exactMatch Orphanet:90692 semapv:UnspecifiedMatching +obo:GARD_19147 Disorder of sex development skos:exactMatch Orphanet:90771 semapv:UnspecifiedMatching +obo:GARD_19148 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 semapv:UnspecifiedMatching +obo:GARD_19149 46,XY disorder of sex development due to a testosterone synthesis defect skos:exactMatch Orphanet:90783 semapv:UnspecifiedMatching +obo:GARD_19150 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect skos:exactMatch Orphanet:90786 semapv:UnspecifiedMatching +obo:GARD_19151 46,XY disorder of sex development due to testicular steroidogenesis defect skos:exactMatch Orphanet:90787 semapv:UnspecifiedMatching +obo:GARD_19152 Other metabolic disease skos:exactMatch Orphanet:91088 semapv:UnspecifiedMatching +obo:GARD_19153 Adenovirus infection in immunocompromised patients skos:exactMatch Orphanet:91127 semapv:UnspecifiedMatching +obo:GARD_19154 Acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch Orphanet:91136 semapv:UnspecifiedMatching +obo:GARD_19155 Unspecified juvenile idiopathic arthritis skos:exactMatch Orphanet:91140 semapv:UnspecifiedMatching +obo:GARD_19156 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 semapv:UnspecifiedMatching +obo:GARD_19157 TSH-secreting pituitary adenoma skos:exactMatch Orphanet:91347 semapv:UnspecifiedMatching +obo:GARD_19158 Functioning gonadotropic adenoma skos:exactMatch Orphanet:91348 semapv:UnspecifiedMatching +obo:GARD_19159 Non-functioning pituitary adenoma skos:exactMatch Orphanet:91349 semapv:UnspecifiedMatching +obo:GARD_19160 Pituitary deficiency due to Rathke cleft cysts skos:exactMatch Orphanet:91350 semapv:UnspecifiedMatching +obo:GARD_19161 Pituitary dermoid and epidermoid cysts skos:exactMatch Orphanet:91351 semapv:UnspecifiedMatching +obo:GARD_19162 Germinoma of the central nervous system skos:exactMatch Orphanet:91352 semapv:UnspecifiedMatching +obo:GARD_19163 Pituitary deficiency due to empty sella turcica syndrome skos:exactMatch Orphanet:91354 semapv:UnspecifiedMatching +obo:GARD_19164 Duplication of the esophagus skos:exactMatch Orphanet:91357 semapv:UnspecifiedMatching +obo:GARD_19165 Congenital esophageal diverticulum skos:exactMatch Orphanet:91358 semapv:UnspecifiedMatching +obo:GARD_19166 Chronic pneumonitis of infancy skos:exactMatch Orphanet:91359 semapv:UnspecifiedMatching +obo:GARD_19167 Non-specific interstitial pneumonia skos:exactMatch Orphanet:91364 semapv:UnspecifiedMatching +obo:GARD_19168 Isolated ankyloblepharon filiforme adnatum skos:exactMatch Orphanet:91397 semapv:UnspecifiedMatching +obo:GARD_19169 Congenital ectropion uveae skos:exactMatch Orphanet:91491 semapv:UnspecifiedMatching +obo:GARD_1917 Dermatitis herpetiformis skos:exactMatch Orphanet:1656 semapv:UnspecifiedMatching +obo:GARD_1917 Dermatitis herpetiformis skos:narrowMatch OMIM:601230 semapv:UnspecifiedMatching +obo:GARD_19170 Lyme disease skos:exactMatch Orphanet:91546 semapv:UnspecifiedMatching +obo:GARD_19171 Relapsing fever skos:exactMatch Orphanet:91547 semapv:UnspecifiedMatching +obo:GARD_19172 Renal hypoplasia skos:exactMatch Orphanet:93101 semapv:UnspecifiedMatching +obo:GARD_19173 Renal dysplasia skos:exactMatch Orphanet:93108 semapv:UnspecifiedMatching +obo:GARD_19174 Congenital megacalycosis skos:exactMatch Orphanet:93109 semapv:UnspecifiedMatching +obo:GARD_19175 Pauci-immune glomerulonephritis skos:exactMatch Orphanet:93126 semapv:UnspecifiedMatching +obo:GARD_19176 Transient pseudohypoaldosteronism skos:exactMatch Orphanet:93164 semapv:UnspecifiedMatching +obo:GARD_19177 Renal dysplasia, unilateral skos:exactMatch Orphanet:93172 semapv:UnspecifiedMatching +obo:GARD_19178 Renal dysplasia, bilateral skos:exactMatch Orphanet:93173 semapv:UnspecifiedMatching +obo:GARD_19179 Unilateral congenital megacalycosis skos:exactMatch Orphanet:93176 semapv:UnspecifiedMatching +obo:GARD_19180 Congenital bilateral megacalycosis skos:exactMatch Orphanet:93177 semapv:UnspecifiedMatching +obo:GARD_19181 Monostotic fibrous dysplasia skos:exactMatch Orphanet:93277 semapv:UnspecifiedMatching +obo:GARD_19182 Ulnar hemimelia skos:exactMatch Orphanet:93320 semapv:UnspecifiedMatching +obo:GARD_19183 Juvenile sialidosis type 2 skos:exactMatch Orphanet:93399 semapv:UnspecifiedMatching +obo:GARD_19184 Congenital sialidosis type 2 skos:exactMatch Orphanet:93400 semapv:UnspecifiedMatching +obo:GARD_19185 FGFR3-related chondrodysplasia skos:exactMatch Orphanet:93420 semapv:UnspecifiedMatching +obo:GARD_19186 Type 2 collagen-related bone disorder skos:exactMatch Orphanet:93421 semapv:UnspecifiedMatching +obo:GARD_19187 Type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 semapv:UnspecifiedMatching +obo:GARD_19188 Sulfation-related bone disorder skos:exactMatch Orphanet:93423 semapv:UnspecifiedMatching +obo:GARD_19189 Perlecan-related bone disorder skos:exactMatch Orphanet:93424 semapv:UnspecifiedMatching +obo:GARD_19190 Filamin-related bone disorder skos:exactMatch Orphanet:93425 semapv:UnspecifiedMatching +obo:GARD_19191 Multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 semapv:UnspecifiedMatching +obo:GARD_19192 Multiple metaphyseal dysplasia skos:exactMatch Orphanet:93430 semapv:UnspecifiedMatching +obo:GARD_19193 Spondylodysplastic dysplasia skos:exactMatch Orphanet:93434 semapv:UnspecifiedMatching +obo:GARD_19194 Acromelic dysplasia skos:exactMatch Orphanet:93436 semapv:UnspecifiedMatching +obo:GARD_19195 Mesomelic and rhizo-mesomelic dysplasia skos:exactMatch Orphanet:93438 semapv:UnspecifiedMatching +obo:GARD_19196 Campomelic dysplasia and related disorders skos:exactMatch Orphanet:93439 semapv:UnspecifiedMatching +obo:GARD_19197 Slender bone dysplasia skos:exactMatch Orphanet:93440 semapv:UnspecifiedMatching +obo:GARD_19198 Primary bone dysplasia with multiple joint dislocations skos:exactMatch Orphanet:93441 semapv:UnspecifiedMatching +obo:GARD_19199 Neonatal osteosclerotic dysplasia skos:exactMatch Orphanet:93443 semapv:UnspecifiedMatching +obo:GARD_192 Cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch Orphanet:1381 semapv:UnspecifiedMatching +obo:GARD_19200 Primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 semapv:UnspecifiedMatching +obo:GARD_19201 Primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 semapv:UnspecifiedMatching +obo:GARD_19202 Primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 semapv:UnspecifiedMatching +obo:GARD_19203 Lysosomal storage disease with skeletal involvement skos:exactMatch Orphanet:93448 semapv:UnspecifiedMatching +obo:GARD_19204 Primary osteolysis skos:exactMatch Orphanet:93449 semapv:UnspecifiedMatching +obo:GARD_19205 Primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 semapv:UnspecifiedMatching +obo:GARD_19206 Cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 semapv:UnspecifiedMatching +obo:GARD_19207 Dysostosis with predominant craniofacial involvement skos:exactMatch Orphanet:93453 semapv:UnspecifiedMatching +obo:GARD_19208 Dysostosis with predominant vertebral and costal involvement skos:exactMatch Orphanet:93454 semapv:UnspecifiedMatching +obo:GARD_19209 Patellar dysostosis skos:exactMatch Orphanet:93455 semapv:UnspecifiedMatching +obo:GARD_19210 Non-syndromic limb reduction defect skos:exactMatch Orphanet:93457 semapv:UnspecifiedMatching +obo:GARD_19211 Non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 semapv:UnspecifiedMatching +obo:GARD_19212 Syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 semapv:UnspecifiedMatching +obo:GARD_19213 Overgrowth syndrome skos:exactMatch Orphanet:93460 semapv:UnspecifiedMatching +obo:GARD_19214 Chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 semapv:UnspecifiedMatching +obo:GARD_19215 Lethal chondrodysplasia skos:exactMatch Orphanet:93465 semapv:UnspecifiedMatching +obo:GARD_19216 Renal or urinary tract malformation skos:exactMatch Orphanet:93545 semapv:UnspecifiedMatching +obo:GARD_19217 Non-syndromic renal or urinary tract malformation skos:exactMatch Orphanet:93546 semapv:UnspecifiedMatching +obo:GARD_19218 Syndromic renal or urinary tract malformation skos:exactMatch Orphanet:93547 semapv:UnspecifiedMatching +obo:GARD_19219 Pediatric systemic lupus erythematosus skos:exactMatch Orphanet:93552 semapv:UnspecifiedMatching +obo:GARD_19220 Mixed cryoglobulinemia type II skos:exactMatch Orphanet:93554 semapv:UnspecifiedMatching +obo:GARD_19221 Mixed cryoglobulinemia type III skos:exactMatch Orphanet:93555 semapv:UnspecifiedMatching +obo:GARD_19222 Heavy chain deposition disease skos:exactMatch Orphanet:93556 semapv:UnspecifiedMatching +obo:GARD_19223 Light and heavy chain deposition disease skos:exactMatch Orphanet:93557 semapv:UnspecifiedMatching +obo:GARD_19224 AApoAI amyloidosis skos:exactMatch Orphanet:93560 semapv:UnspecifiedMatching +obo:GARD_19225 ALys amyloidosis skos:exactMatch Orphanet:93561 semapv:UnspecifiedMatching +obo:GARD_19226 AFib amyloidosis skos:exactMatch Orphanet:93562 semapv:UnspecifiedMatching +obo:GARD_19227 Thrombotic microangiopathy skos:exactMatch Orphanet:93573 semapv:UnspecifiedMatching +obo:GARD_19228 Genetic cystic renal disease skos:exactMatch Orphanet:93587 semapv:UnspecifiedMatching +obo:GARD_19229 Nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 semapv:UnspecifiedMatching +obo:GARD_19230 Rare renal tubular disease skos:exactMatch Orphanet:93603 semapv:UnspecifiedMatching +obo:GARD_19231 Hematological disorder with renal involvement skos:exactMatch Orphanet:93614 semapv:UnspecifiedMatching +obo:GARD_19232 Rare cause of hypertension skos:exactMatch Orphanet:93618 semapv:UnspecifiedMatching +obo:GARD_19233 Rare renal tumor skos:exactMatch Orphanet:93619 semapv:UnspecifiedMatching +obo:GARD_19234 Autoinflammatory syndrome skos:exactMatch Orphanet:93665 semapv:UnspecifiedMatching +obo:GARD_19235 Isolated epispadias skos:exactMatch Orphanet:93928 semapv:UnspecifiedMatching +obo:GARD_19236 Laryngotracheoesophageal cleft type 1 skos:exactMatch Orphanet:93938 semapv:UnspecifiedMatching +obo:GARD_19237 Laryngotracheoesophageal cleft type 2 skos:exactMatch Orphanet:93939 semapv:UnspecifiedMatching +obo:GARD_19238 Laryngotracheoesophageal cleft type 4 skos:exactMatch Orphanet:93941 semapv:UnspecifiedMatching +obo:GARD_19239 X-linked intellectual disability, Porteous type skos:exactMatch Orphanet:93945 semapv:UnspecifiedMatching +obo:GARD_19240 Hamel cerebro-palato-cardiac syndrome skos:exactMatch Orphanet:93946 semapv:UnspecifiedMatching +obo:GARD_19241 X-linked intellectual disability, Golabi-Ito-Hall type skos:exactMatch Orphanet:93947 semapv:UnspecifiedMatching +obo:GARD_19242 X-linked intellectual disability, Sutherland-Haan type skos:exactMatch Orphanet:93950 semapv:UnspecifiedMatching +obo:GARD_19243 Oromandibular dystonia skos:exactMatch Orphanet:93958 semapv:UnspecifiedMatching +obo:GARD_19244 Humero-ulnar synostosis skos:exactMatch Orphanet:94056 semapv:UnspecifiedMatching +obo:GARD_19245 Neovascular glaucoma skos:exactMatch Orphanet:94058 semapv:UnspecifiedMatching +obo:GARD_19246 Uremic pruritus skos:exactMatch Orphanet:94059 semapv:UnspecifiedMatching +obo:GARD_19247 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:exactMatch Orphanet:94066 semapv:UnspecifiedMatching +obo:GARD_19248 Non-functioning paraganglioma skos:exactMatch Orphanet:94080 semapv:UnspecifiedMatching +obo:GARD_19249 Cytophagic histiocytic panniculitis skos:exactMatch Orphanet:94087 semapv:UnspecifiedMatching +obo:GARD_19250 Mills syndrome skos:exactMatch Orphanet:94091 semapv:UnspecifiedMatching +obo:GARD_19251 Recessive mitochondrial ataxia syndrome skos:exactMatch Orphanet:94125 semapv:UnspecifiedMatching +obo:GARD_19252 Autosomal dominant cerebellar ataxia type I skos:exactMatch Orphanet:94145 semapv:UnspecifiedMatching +obo:GARD_19253 Autosomal dominant cerebellar ataxia type III skos:exactMatch Orphanet:94148 semapv:UnspecifiedMatching +obo:GARD_19254 Autosomal dominant cerebellar ataxia type IV skos:exactMatch Orphanet:94149 semapv:UnspecifiedMatching +obo:GARD_19255 Acute hepatic porphyria skos:exactMatch Orphanet:95157 semapv:UnspecifiedMatching +obo:GARD_19256 Chronic hepatic porphyria skos:exactMatch Orphanet:95161 semapv:UnspecifiedMatching +obo:GARD_19257 Acute adrenal insufficiency skos:exactMatch Orphanet:95409 semapv:UnspecifiedMatching +obo:GARD_19258 Secondary short bowel syndrome skos:exactMatch Orphanet:95427 semapv:UnspecifiedMatching +obo:GARD_19259 Mesocardia skos:exactMatch Orphanet:95443 semapv:UnspecifiedMatching +obo:GARD_19260 Congenital aortic valve atresia skos:exactMatch Orphanet:95448 semapv:UnspecifiedMatching +obo:GARD_19261 Tricuspid valve agenesis skos:exactMatch Orphanet:95457 semapv:UnspecifiedMatching +obo:GARD_19262 Congenital tricuspid stenosis skos:exactMatch Orphanet:95459 semapv:UnspecifiedMatching +obo:GARD_19263 Straddling or overriding tricuspid valve skos:exactMatch Orphanet:95461 semapv:UnspecifiedMatching +obo:GARD_19264 Accessory tricuspid valve tissue skos:exactMatch Orphanet:95462 semapv:UnspecifiedMatching +obo:GARD_19265 Anomaly of the tricuspid subvalvular apparatus skos:exactMatch Orphanet:95463 semapv:UnspecifiedMatching +obo:GARD_19266 Congenital mitral valve insufficiency and/or stenosis skos:exactMatch Orphanet:95464 semapv:UnspecifiedMatching +obo:GARD_19267 Cleft mitral valve skos:exactMatch Orphanet:95465 semapv:UnspecifiedMatching +obo:GARD_19268 Double-orifice mitral valve skos:exactMatch Orphanet:95474 semapv:UnspecifiedMatching +obo:GARD_19269 Univentricular cardiopathy skos:exactMatch Orphanet:95483 semapv:UnspecifiedMatching +obo:GARD_19270 Arterial duct anomaly skos:exactMatch Orphanet:95485 semapv:UnspecifiedMatching +obo:GARD_19271 Premature closure of the arterial duct skos:exactMatch Orphanet:95486 semapv:UnspecifiedMatching +obo:GARD_19272 Non-acquired pituitary hormone deficiency skos:exactMatch Orphanet:95488 semapv:UnspecifiedMatching +obo:GARD_19273 Congenital coronary artery aneurysm skos:exactMatch Orphanet:95491 semapv:UnspecifiedMatching +obo:GARD_19274 Disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 semapv:UnspecifiedMatching +obo:GARD_19275 Congenital anomaly of superior vena cava skos:exactMatch Orphanet:95498 semapv:UnspecifiedMatching +obo:GARD_19276 Congenital anomaly of the inferior vena cava skos:exactMatch Orphanet:95499 semapv:UnspecifiedMatching +obo:GARD_19277 Congenital anomaly of the coronary sinus skos:exactMatch Orphanet:95500 semapv:UnspecifiedMatching +obo:GARD_19278 Acquired pituitary hormone deficiency skos:exactMatch Orphanet:95502 semapv:UnspecifiedMatching +obo:GARD_19279 Pituitary hormone deficiency of tumoral origin skos:exactMatch Orphanet:95503 semapv:UnspecifiedMatching +obo:GARD_19280 Pituitary hormone deficiency of meningeal origin skos:exactMatch Orphanet:95505 semapv:UnspecifiedMatching +obo:GARD_19281 Primary hypophysitis skos:exactMatch Orphanet:95506 semapv:UnspecifiedMatching +obo:GARD_19282 Congenital anomaly of hepatic vein skos:exactMatch Orphanet:95507 semapv:UnspecifiedMatching +obo:GARD_19283 Atrial appendage anomaly skos:exactMatch Orphanet:95510 semapv:UnspecifiedMatching +obo:GARD_19284 Adenohypophysitis skos:exactMatch Orphanet:95512 semapv:UnspecifiedMatching +obo:GARD_19285 Panhypophysitis skos:exactMatch Orphanet:95513 semapv:UnspecifiedMatching +obo:GARD_19286 Pituitary hormone deficiency of vascular origin skos:exactMatch Orphanet:95611 semapv:UnspecifiedMatching +obo:GARD_19287 Pituitary apoplexy skos:exactMatch Orphanet:95613 semapv:UnspecifiedMatching +obo:GARD_19288 Pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 semapv:UnspecifiedMatching +obo:GARD_19289 Pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 semapv:UnspecifiedMatching +obo:GARD_19290 Post-traumatic pituitary deficiency skos:exactMatch Orphanet:95619 semapv:UnspecifiedMatching +obo:GARD_19291 Acquired central diabetes insipidus skos:exactMatch Orphanet:95626 semapv:UnspecifiedMatching +obo:GARD_19292 Idiopathic isolated micropenis skos:exactMatch Orphanet:95707 semapv:UnspecifiedMatching +obo:GARD_19293 Acquired premature ovarian failure skos:exactMatch Orphanet:95709 semapv:UnspecifiedMatching +obo:GARD_19294 Non-acquired premature ovarian failure skos:exactMatch Orphanet:95710 semapv:UnspecifiedMatching +obo:GARD_19295 Congenital hypothyroidism due to developmental anomaly skos:exactMatch Orphanet:95711 semapv:UnspecifiedMatching +obo:GARD_19296 Primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 semapv:UnspecifiedMatching +obo:GARD_19297 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies skos:exactMatch Orphanet:95715 semapv:UnspecifiedMatching +obo:GARD_19298 Idiopathic congenital hypothyroidism skos:exactMatch Orphanet:95717 semapv:UnspecifiedMatching +obo:GARD_19299 Congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 semapv:UnspecifiedMatching +obo:GARD_193 Opitz GBBB syndrome skos:exactMatch Orphanet:2745 semapv:UnspecifiedMatching +obo:GARD_193 Opitz GBBB syndrome skos:narrowMatch OMIM:300000 semapv:UnspecifiedMatching +obo:GARD_19300 Mosaic trisomy 4 skos:exactMatch Orphanet:96059 semapv:UnspecifiedMatching +obo:GARD_19301 Mosaic trisomy 5 skos:exactMatch Orphanet:96060 semapv:UnspecifiedMatching +obo:GARD_19302 Mosaic trisomy 10 skos:exactMatch Orphanet:96063 semapv:UnspecifiedMatching +obo:GARD_19303 Distal trisomy 1p36 skos:exactMatch Orphanet:96069 semapv:UnspecifiedMatching +obo:GARD_19304 Distal trisomy 2p skos:exactMatch Orphanet:96070 semapv:UnspecifiedMatching +obo:GARD_19305 Distal trisomy 3p skos:exactMatch Orphanet:96071 semapv:UnspecifiedMatching +obo:GARD_19306 4p16.3 microduplication syndrome skos:exactMatch Orphanet:96072 semapv:UnspecifiedMatching +obo:GARD_19307 Distal trisomy 7p skos:exactMatch Orphanet:96074 semapv:UnspecifiedMatching +obo:GARD_19308 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:exactMatch Orphanet:96076 semapv:UnspecifiedMatching +obo:GARD_19309 8p inverted duplication/deletion syndrome skos:exactMatch Orphanet:96092 semapv:UnspecifiedMatching +obo:GARD_19310 Distal trisomy 2q skos:exactMatch Orphanet:96094 semapv:UnspecifiedMatching +obo:GARD_19311 3q26 microduplication syndrome skos:exactMatch Orphanet:96095 semapv:UnspecifiedMatching +obo:GARD_19312 Distal trisomy 4q skos:exactMatch Orphanet:96096 semapv:UnspecifiedMatching +obo:GARD_19313 Distal trisomy 5q skos:exactMatch Orphanet:96097 semapv:UnspecifiedMatching +obo:GARD_19314 Distal trisomy 6q skos:exactMatch Orphanet:96098 semapv:UnspecifiedMatching +obo:GARD_19315 Distal trisomy 8q skos:exactMatch Orphanet:96100 semapv:UnspecifiedMatching +obo:GARD_19316 Distal trisomy 9q skos:exactMatch Orphanet:96101 semapv:UnspecifiedMatching +obo:GARD_19317 Distal trisomy 10q skos:exactMatch Orphanet:96102 semapv:UnspecifiedMatching +obo:GARD_19318 Distal trisomy 11q skos:exactMatch Orphanet:96103 semapv:UnspecifiedMatching +obo:GARD_19319 Distal trisomy 13q skos:exactMatch Orphanet:96105 semapv:UnspecifiedMatching +obo:GARD_19320 Distal trisomy 16q skos:exactMatch Orphanet:96106 semapv:UnspecifiedMatching +obo:GARD_19321 Distal trisomy 20q skos:exactMatch Orphanet:96107 semapv:UnspecifiedMatching +obo:GARD_19322 Distal trisomy 22q skos:exactMatch Orphanet:96109 semapv:UnspecifiedMatching +obo:GARD_19323 Non-distal trisomy 9q skos:exactMatch Orphanet:96112 semapv:UnspecifiedMatching +obo:GARD_19324 Monosomy 22 skos:exactMatch Orphanet:96123 semapv:UnspecifiedMatching +obo:GARD_19325 Distal monosomy 7p skos:exactMatch Orphanet:96126 semapv:UnspecifiedMatching +obo:GARD_19326 Distal monosomy 19p13.3 skos:exactMatch Orphanet:96129 semapv:UnspecifiedMatching +obo:GARD_19327 Distal monosomy 4q skos:exactMatch Orphanet:96145 semapv:UnspecifiedMatching +obo:GARD_19328 Distal monosomy 12q skos:exactMatch Orphanet:96149 semapv:UnspecifiedMatching +obo:GARD_19329 Distal monosomy 14q skos:exactMatch Orphanet:96150 semapv:UnspecifiedMatching +obo:GARD_19330 Non-distal monosomy 12q skos:exactMatch Orphanet:96160 semapv:UnspecifiedMatching +obo:GARD_19331 Maternal uniparental disomy of chromosome 2 skos:exactMatch Orphanet:96179 semapv:UnspecifiedMatching +obo:GARD_19332 Maternal uniparental disomy of chromosome 4 skos:exactMatch Orphanet:96180 semapv:UnspecifiedMatching +obo:GARD_19333 Maternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96181 semapv:UnspecifiedMatching +obo:GARD_19334 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96182 semapv:UnspecifiedMatching +obo:GARD_19335 Maternal uniparental disomy of chromosome 9 skos:exactMatch Orphanet:96183 semapv:UnspecifiedMatching +obo:GARD_19336 Maternal uniparental disomy of chromosome 16 skos:exactMatch Orphanet:96185 semapv:UnspecifiedMatching +obo:GARD_19337 Maternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96187 semapv:UnspecifiedMatching +obo:GARD_19338 Maternal uniparental disomy of chromosome 22 skos:exactMatch Orphanet:96188 semapv:UnspecifiedMatching +obo:GARD_19339 Paternal uniparental disomy of chromosome 5 skos:exactMatch Orphanet:96190 semapv:UnspecifiedMatching +obo:GARD_19340 Paternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96191 semapv:UnspecifiedMatching +obo:GARD_19341 Paternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96192 semapv:UnspecifiedMatching +obo:GARD_19342 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:96193 semapv:UnspecifiedMatching +obo:GARD_19343 Paternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96194 semapv:UnspecifiedMatching +obo:GARD_19344 Paternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96195 semapv:UnspecifiedMatching +obo:GARD_19345 X small rings skos:exactMatch Orphanet:96201 semapv:UnspecifiedMatching +obo:GARD_19346 Rare genetic deafness skos:exactMatch Orphanet:96210 semapv:UnspecifiedMatching +obo:GARD_19347 Isolated partial vaginal agenesis skos:exactMatch Orphanet:96269 semapv:UnspecifiedMatching +obo:GARD_19348 Polyploidy skos:exactMatch Orphanet:96321 semapv:UnspecifiedMatching +obo:GARD_19349 Isochromosome Y skos:exactMatch Orphanet:96325 semapv:UnspecifiedMatching +obo:GARD_19350 Rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 semapv:UnspecifiedMatching +obo:GARD_19351 Anorectal malformation skos:exactMatch Orphanet:96346 semapv:UnspecifiedMatching +obo:GARD_19352 Early-onset schizophrenia skos:exactMatch Orphanet:96369 semapv:UnspecifiedMatching +obo:GARD_19353 Solar urticaria skos:exactMatch Orphanet:97230 semapv:UnspecifiedMatching +obo:GARD_19354 Zebra body myopathy skos:exactMatch Orphanet:97240 semapv:UnspecifiedMatching +obo:GARD_19355 Mega-cisterna magna skos:exactMatch Orphanet:97252 semapv:UnspecifiedMatching +obo:GARD_19356 GRFoma skos:exactMatch Orphanet:97261 semapv:UnspecifiedMatching +obo:GARD_19357 Encephalitis skos:exactMatch Orphanet:97275 semapv:UnspecifiedMatching +obo:GARD_19358 PPoma skos:exactMatch Orphanet:97278 semapv:UnspecifiedMatching +obo:GARD_19359 Thyroid lymphoma skos:exactMatch Orphanet:97285 semapv:UnspecifiedMatching +obo:GARD_19360 Bronchial neuroendocrine tumor skos:exactMatch Orphanet:97287 semapv:UnspecifiedMatching +obo:GARD_19361 Thymic neuroendocrine tumor skos:exactMatch Orphanet:97289 semapv:UnspecifiedMatching +obo:GARD_19362 Cardiogenic shock skos:exactMatch Orphanet:97292 semapv:UnspecifiedMatching +obo:GARD_19363 Rare benign ovarian tumor skos:exactMatch Orphanet:97293 semapv:UnspecifiedMatching +obo:GARD_19364 Osgood-Schlatter disease skos:exactMatch Orphanet:97335 semapv:UnspecifiedMatching +obo:GARD_19365 Panner disease skos:exactMatch Orphanet:97336 semapv:UnspecifiedMatching +obo:GARD_19366 Sinding-Larsen-Johansson disease skos:exactMatch Orphanet:97337 semapv:UnspecifiedMatching +obo:GARD_19367 Melanoma of soft tissue skos:exactMatch Orphanet:97338 semapv:UnspecifiedMatching +obo:GARD_19368 Dural sinus malformation skos:exactMatch Orphanet:97339 semapv:UnspecifiedMatching +obo:GARD_19369 Persistent placoid maculopathy skos:exactMatch Orphanet:97341 semapv:UnspecifiedMatching +obo:GARD_19370 Postencephalitic parkinsonism skos:exactMatch Orphanet:97349 semapv:UnspecifiedMatching +obo:GARD_19371 Dementia pugilistica skos:exactMatch Orphanet:97353 semapv:UnspecifiedMatching +obo:GARD_19372 Caribbean parkinsonism skos:exactMatch Orphanet:97355 semapv:UnspecifiedMatching +obo:GARD_19373 Renal hypoplasia, unilateral skos:exactMatch Orphanet:97361 semapv:UnspecifiedMatching +obo:GARD_19374 Renal hypoplasia, bilateral skos:exactMatch Orphanet:97362 semapv:UnspecifiedMatching +obo:GARD_19375 Unilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97363 semapv:UnspecifiedMatching +obo:GARD_19376 Multiloculated renal cyst skos:exactMatch Orphanet:97366 semapv:UnspecifiedMatching +obo:GARD_19377 Renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch Orphanet:97367 semapv:UnspecifiedMatching +obo:GARD_19378 Drug-related renal tubular dysgenesis skos:exactMatch Orphanet:97368 semapv:UnspecifiedMatching +obo:GARD_19379 Pauci-immune glomerulonephritis with ANCA skos:exactMatch Orphanet:97563 semapv:UnspecifiedMatching +obo:GARD_19380 Pauci-immune glomerulonephritis without ANCA skos:exactMatch Orphanet:97564 semapv:UnspecifiedMatching +obo:GARD_19381 Congenital renal artery stenosis skos:exactMatch Orphanet:97598 semapv:UnspecifiedMatching +obo:GARD_19382 Maternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:97678 semapv:UnspecifiedMatching +obo:GARD_19383 Gastroduodenal malformation skos:exactMatch Orphanet:97944 semapv:UnspecifiedMatching +obo:GARD_19384 Intestinal malformation skos:exactMatch Orphanet:97945 semapv:UnspecifiedMatching +obo:GARD_19385 Respiratory or thoracic malformation skos:exactMatch Orphanet:97957 semapv:UnspecifiedMatching +obo:GARD_19386 Infectious disease of the nervous system skos:exactMatch Orphanet:98010 semapv:UnspecifiedMatching +obo:GARD_19387 Rare headache skos:exactMatch Orphanet:98022 semapv:UnspecifiedMatching +obo:GARD_19388 Rare disease with odontological manifestation skos:exactMatch Orphanet:98027 semapv:UnspecifiedMatching +obo:GARD_19389 Rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 semapv:UnspecifiedMatching +obo:GARD_19390 Cranial malformation skos:exactMatch Orphanet:98038 semapv:UnspecifiedMatching +obo:GARD_19391 Digestive tract malformation skos:exactMatch Orphanet:98039 semapv:UnspecifiedMatching +obo:GARD_19392 Visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 semapv:UnspecifiedMatching +obo:GARD_19393 Diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 semapv:UnspecifiedMatching +obo:GARD_19394 Central nervous system malformation skos:exactMatch Orphanet:98044 semapv:UnspecifiedMatching +obo:GARD_19395 Respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 semapv:UnspecifiedMatching +obo:GARD_19396 Rare male infertility skos:exactMatch Orphanet:98048 semapv:UnspecifiedMatching +obo:GARD_19397 Rare female infertility skos:exactMatch Orphanet:98049 semapv:UnspecifiedMatching +obo:GARD_19398 Rare allergic respiratory disease skos:exactMatch Orphanet:98052 semapv:UnspecifiedMatching +obo:GARD_19399 Rare genetic cardiac disease skos:exactMatch Orphanet:98054 semapv:UnspecifiedMatching +obo:GARD_194 Gamma-aminobutyric acid transaminase deficiency skos:exactMatch Orphanet:2066 semapv:UnspecifiedMatching +obo:GARD_194 Gamma-aminobutyric acid transaminase deficiency skos:narrowMatch OMIM:613163 semapv:UnspecifiedMatching +obo:GARD_19400 Rare genetic renal disease skos:exactMatch Orphanet:98056 semapv:UnspecifiedMatching +obo:GARD_19401 Rare tumor skos:exactMatch Orphanet:98057 semapv:UnspecifiedMatching +obo:GARD_19402 Rare urinary tract tumor skos:exactMatch Orphanet:98058 semapv:UnspecifiedMatching +obo:GARD_19403 Rare digestive tumor skos:exactMatch Orphanet:98059 semapv:UnspecifiedMatching +obo:GARD_19404 Rare respiratory tumor skos:exactMatch Orphanet:98060 semapv:UnspecifiedMatching +obo:GARD_19405 Rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 semapv:UnspecifiedMatching +obo:GARD_19406 Rare nervous system tumor skos:exactMatch Orphanet:98062 semapv:UnspecifiedMatching +obo:GARD_19407 Rare gynecological tumor skos:exactMatch Orphanet:98063 semapv:UnspecifiedMatching +obo:GARD_19408 Gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 semapv:UnspecifiedMatching +obo:GARD_19409 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 semapv:UnspecifiedMatching +obo:GARD_19410 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue skos:exactMatch Orphanet:98086 semapv:UnspecifiedMatching +obo:GARD_19411 Syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 semapv:UnspecifiedMatching +obo:GARD_19412 Autosomal recessive congenital cerebellar ataxia skos:exactMatch Orphanet:98095 semapv:UnspecifiedMatching +obo:GARD_19413 Autosomal recessive metabolic cerebellar ataxia skos:exactMatch Orphanet:98096 semapv:UnspecifiedMatching +obo:GARD_19414 Autosomal recessive cerebellar ataxia due to a DNA repair defect skos:exactMatch Orphanet:98097 semapv:UnspecifiedMatching +obo:GARD_19415 Autosomal recessive degenerative and progressive cerebellar ataxia skos:exactMatch Orphanet:98098 semapv:UnspecifiedMatching +obo:GARD_19416 Autosomal recessive syndromic cerebellar ataxia skos:exactMatch Orphanet:98099 semapv:UnspecifiedMatching +obo:GARD_19417 Autosomal anomaly skos:exactMatch Orphanet:98127 semapv:UnspecifiedMatching +obo:GARD_19418 Autosomal trisomy skos:exactMatch Orphanet:98130 semapv:UnspecifiedMatching +obo:GARD_19419 Total autosomal trisomy skos:exactMatch Orphanet:98131 semapv:UnspecifiedMatching +obo:GARD_19420 Partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 semapv:UnspecifiedMatching +obo:GARD_19421 Total autosomal monosomy skos:exactMatch Orphanet:98141 semapv:UnspecifiedMatching +obo:GARD_19422 Partial autosomal monosomy skos:exactMatch Orphanet:98142 semapv:UnspecifiedMatching +obo:GARD_19423 Autosomal uniparental disomy skos:exactMatch Orphanet:98152 semapv:UnspecifiedMatching +obo:GARD_19424 Maternal uniparental disomy skos:exactMatch Orphanet:98153 semapv:UnspecifiedMatching +obo:GARD_19425 Paternal uniparental disomy skos:exactMatch Orphanet:98154 semapv:UnspecifiedMatching +obo:GARD_19426 Sex-chromosome anomaly skos:exactMatch Orphanet:98155 semapv:UnspecifiedMatching +obo:GARD_19427 Sex-chromosome number anomaly skos:exactMatch Orphanet:98156 semapv:UnspecifiedMatching +obo:GARD_19428 Sex-chromosome structural anomaly skos:exactMatch Orphanet:98157 semapv:UnspecifiedMatching +obo:GARD_19429 Chromosome Y structural anomaly skos:exactMatch Orphanet:98158 semapv:UnspecifiedMatching +obo:GARD_19430 Chromosome X structural anomaly skos:exactMatch Orphanet:98159 semapv:UnspecifiedMatching +obo:GARD_19431 Malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 semapv:UnspecifiedMatching +obo:GARD_19432 Combined dystonia skos:exactMatch Orphanet:98203 semapv:UnspecifiedMatching +obo:GARD_19433 Infectious encephalitis skos:exactMatch Orphanet:98252 semapv:UnspecifiedMatching +obo:GARD_19434 Chronic encephalitis skos:exactMatch Orphanet:98255 semapv:UnspecifiedMatching +obo:GARD_19435 Neonatal epilepsy syndrome skos:exactMatch Orphanet:98257 semapv:UnspecifiedMatching +obo:GARD_19436 Infantile epilepsy syndrome skos:exactMatch Orphanet:98258 semapv:UnspecifiedMatching +obo:GARD_19437 Childhood-onset epilepsy syndrome skos:exactMatch Orphanet:98259 semapv:UnspecifiedMatching +obo:GARD_19438 Adolescent-onset epilepsy syndrome skos:exactMatch Orphanet:98260 semapv:UnspecifiedMatching +obo:GARD_19439 Genetic non-syndromic obesity skos:exactMatch Orphanet:98267 semapv:UnspecifiedMatching +obo:GARD_19440 Plasma cell tumor skos:exactMatch Orphanet:98282 semapv:UnspecifiedMatching +obo:GARD_19441 Histiocytic and dendritic cell tumor skos:exactMatch Orphanet:98287 semapv:UnspecifiedMatching +obo:GARD_19442 Macrophage or histiocytic tumor skos:exactMatch Orphanet:98288 semapv:UnspecifiedMatching +obo:GARD_19443 Immunodeficiency-associated lymphoproliferative disease skos:exactMatch Orphanet:98290 semapv:UnspecifiedMatching +obo:GARD_19444 Laminopathy skos:exactMatch Orphanet:98301 semapv:UnspecifiedMatching +obo:GARD_19445 Male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 semapv:UnspecifiedMatching +obo:GARD_19446 Male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 semapv:UnspecifiedMatching +obo:GARD_19447 Autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 semapv:UnspecifiedMatching +obo:GARD_19448 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 semapv:UnspecifiedMatching +obo:GARD_19449 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 semapv:UnspecifiedMatching +obo:GARD_19450 Autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 semapv:UnspecifiedMatching +obo:GARD_19451 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 semapv:UnspecifiedMatching +obo:GARD_19452 Constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 semapv:UnspecifiedMatching +obo:GARD_19453 Constitutional sideroblastic anemia skos:exactMatch Orphanet:98362 semapv:UnspecifiedMatching +obo:GARD_19454 Rare hemolytic anemia skos:exactMatch Orphanet:98363 semapv:UnspecifiedMatching +obo:GARD_19455 Rare constitutional hemolytic anemia due to a red cell membrane anomaly skos:exactMatch Orphanet:98364 semapv:UnspecifiedMatching +obo:GARD_19456 Hereditary stomatocytosis skos:exactMatch Orphanet:98365 semapv:UnspecifiedMatching +obo:GARD_19457 Constitutional hemolytic anemia due to acanthocytosis skos:exactMatch Orphanet:98366 semapv:UnspecifiedMatching +obo:GARD_19458 Rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 semapv:UnspecifiedMatching +obo:GARD_19459 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 semapv:UnspecifiedMatching +obo:GARD_19460 Hemolytic anemia due to a disorder of glycolytic enzymes skos:exactMatch Orphanet:98372 semapv:UnspecifiedMatching +obo:GARD_19461 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder skos:exactMatch Orphanet:98374 semapv:UnspecifiedMatching +obo:GARD_19462 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 semapv:UnspecifiedMatching +obo:GARD_19463 Constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 semapv:UnspecifiedMatching +obo:GARD_19464 Vitamin B12- and folate-independent constitutional megaloblastic anemia skos:exactMatch Orphanet:98415 semapv:UnspecifiedMatching +obo:GARD_19465 Primary acquired red cell aplasia skos:exactMatch Orphanet:98421 semapv:UnspecifiedMatching +obo:GARD_19466 Polycythemia skos:exactMatch Orphanet:98427 semapv:UnspecifiedMatching +obo:GARD_19467 Secondary polycythemia skos:exactMatch Orphanet:98428 semapv:UnspecifiedMatching +obo:GARD_19468 Rare coagulation disorder skos:exactMatch Orphanet:98429 semapv:UnspecifiedMatching +obo:GARD_19469 Alpha granule disease skos:exactMatch Orphanet:98455 semapv:UnspecifiedMatching +obo:GARD_19470 Dense granule disease skos:exactMatch Orphanet:98456 semapv:UnspecifiedMatching +obo:GARD_19471 Skeletal muscle disease skos:exactMatch Orphanet:98472 semapv:UnspecifiedMatching +obo:GARD_19472 Metabolic myopathy skos:exactMatch Orphanet:98486 semapv:UnspecifiedMatching +obo:GARD_19473 Neuromuscular junction disease skos:exactMatch Orphanet:98491 semapv:UnspecifiedMatching +obo:GARD_19474 Acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 semapv:UnspecifiedMatching +obo:GARD_19475 Genetic neuromuscular junction disease skos:exactMatch Orphanet:98495 semapv:UnspecifiedMatching +obo:GARD_19476 Rare peripheral neuropathy skos:exactMatch Orphanet:98496 semapv:UnspecifiedMatching +obo:GARD_19477 Motor neuron disease skos:exactMatch Orphanet:98503 semapv:UnspecifiedMatching +obo:GARD_19478 Genetic motor neuron disease skos:exactMatch Orphanet:98505 semapv:UnspecifiedMatching +obo:GARD_19479 Acquired motor neuron disease skos:exactMatch Orphanet:98506 semapv:UnspecifiedMatching +obo:GARD_19480 Malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 semapv:UnspecifiedMatching +obo:GARD_19481 Malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 semapv:UnspecifiedMatching +obo:GARD_19482 Cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 semapv:UnspecifiedMatching +obo:GARD_19483 Posterior fossa malformation skos:exactMatch Orphanet:98519 semapv:UnspecifiedMatching +obo:GARD_19484 Neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 semapv:UnspecifiedMatching +obo:GARD_19485 Frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 semapv:UnspecifiedMatching +obo:GARD_19486 Ataxia with dementia skos:exactMatch Orphanet:98538 semapv:UnspecifiedMatching +obo:GARD_19487 Early-onset ataxia with dementia skos:exactMatch Orphanet:98539 semapv:UnspecifiedMatching +obo:GARD_19488 Late-onset ataxia with dementia skos:exactMatch Orphanet:98540 semapv:UnspecifiedMatching +obo:GARD_19489 Infectious disease with dementia skos:exactMatch Orphanet:98542 semapv:UnspecifiedMatching +obo:GARD_19490 Metabolic disease with dementia skos:exactMatch Orphanet:98543 semapv:UnspecifiedMatching +obo:GARD_19491 Cerebral lipidosis with dementia skos:exactMatch Orphanet:98544 semapv:UnspecifiedMatching +obo:GARD_19492 Rare cerebrovascular dementia skos:exactMatch Orphanet:98549 semapv:UnspecifiedMatching +obo:GARD_19493 Microphthalmia-anophthalmia-coloboma skos:exactMatch Orphanet:98555 semapv:UnspecifiedMatching +obo:GARD_19494 Syndromic aniridia skos:exactMatch Orphanet:98557 semapv:UnspecifiedMatching +obo:GARD_19495 Rare palpebral disorder skos:exactMatch Orphanet:98560 semapv:UnspecifiedMatching +obo:GARD_19496 Congenital malformation of the eyelid skos:exactMatch Orphanet:98561 semapv:UnspecifiedMatching +obo:GARD_19497 Microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 semapv:UnspecifiedMatching +obo:GARD_19498 Eyelid border anomaly skos:exactMatch Orphanet:98564 semapv:UnspecifiedMatching +obo:GARD_19499 Syndromic ankyloblepharon filiforme adnatum skos:exactMatch Orphanet:98565 semapv:UnspecifiedMatching +obo:GARD_195 Hyperkalemic periodic paralysis skos:exactMatch Orphanet:682 semapv:UnspecifiedMatching +obo:GARD_195 Hyperkalemic periodic paralysis skos:narrowMatch OMIM:170500 semapv:UnspecifiedMatching +obo:GARD_19500 Syndromic eyelid coloboma skos:exactMatch Orphanet:98566 semapv:UnspecifiedMatching +obo:GARD_19501 Rare eyelid malposition disorder skos:exactMatch Orphanet:98567 semapv:UnspecifiedMatching +obo:GARD_19502 Congenital ectropion skos:exactMatch Orphanet:98570 semapv:UnspecifiedMatching +obo:GARD_19503 Secondary ectropion skos:exactMatch Orphanet:98571 semapv:UnspecifiedMatching +obo:GARD_19504 Syndromic epicanthus skos:exactMatch Orphanet:98574 semapv:UnspecifiedMatching +obo:GARD_19505 Syndromic telecanthus skos:exactMatch Orphanet:98575 semapv:UnspecifiedMatching +obo:GARD_19506 Syndromic outer canthal malposition skos:exactMatch Orphanet:98576 semapv:UnspecifiedMatching +obo:GARD_19507 Rare disorder with ptosis skos:exactMatch Orphanet:98578 semapv:UnspecifiedMatching +obo:GARD_19508 Rare eyebrow/eyelash disorder skos:exactMatch Orphanet:98594 semapv:UnspecifiedMatching +obo:GARD_19509 Rare disorder of the lacrimal apparatus skos:exactMatch Orphanet:98602 semapv:UnspecifiedMatching +obo:GARD_19510 Congenital alacrima skos:exactMatch Orphanet:98604 semapv:UnspecifiedMatching +obo:GARD_19511 Lacrimal drainage system anomaly skos:exactMatch Orphanet:98605 semapv:UnspecifiedMatching +obo:GARD_19512 EEC syndrome and related disorders skos:exactMatch Orphanet:98609 semapv:UnspecifiedMatching +obo:GARD_19513 Rare disorder with conjunctival involvement as a major feature skos:exactMatch Orphanet:98610 semapv:UnspecifiedMatching +obo:GARD_19514 Rare refraction anomaly skos:exactMatch Orphanet:98618 semapv:UnspecifiedMatching +obo:GARD_19515 Rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 semapv:UnspecifiedMatching +obo:GARD_19516 Syndromic hyperopia skos:exactMatch Orphanet:98622 semapv:UnspecifiedMatching +obo:GARD_19517 Syndromic keratoconus skos:exactMatch Orphanet:98623 semapv:UnspecifiedMatching +obo:GARD_19518 Superficial corneal dystrophy skos:exactMatch Orphanet:98625 semapv:UnspecifiedMatching +obo:GARD_19519 Stromal corneal dystrophy skos:exactMatch Orphanet:98626 semapv:UnspecifiedMatching +obo:GARD_19520 Posterior corneal dystrophy skos:exactMatch Orphanet:98627 semapv:UnspecifiedMatching +obo:GARD_19521 Syndromic corneal dystrophy skos:exactMatch Orphanet:98628 semapv:UnspecifiedMatching +obo:GARD_19522 Congenital malformation of the eye with glaucoma as a major feature skos:exactMatch Orphanet:98631 semapv:UnspecifiedMatching +obo:GARD_19523 Corneodysgenesis skos:exactMatch Orphanet:98635 semapv:UnspecifiedMatching +obo:GARD_19524 Rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 semapv:UnspecifiedMatching +obo:GARD_19525 Rare lens disease skos:exactMatch Orphanet:98639 semapv:UnspecifiedMatching +obo:GARD_19526 Rare disorder with lens opacification skos:exactMatch Orphanet:98640 semapv:UnspecifiedMatching +obo:GARD_19527 Syndromic cataract skos:exactMatch Orphanet:98641 semapv:UnspecifiedMatching +obo:GARD_19528 Chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 semapv:UnspecifiedMatching +obo:GARD_19529 Metabolic disease with cataract skos:exactMatch Orphanet:98644 semapv:UnspecifiedMatching +obo:GARD_19530 Renal disease with cataract skos:exactMatch Orphanet:98646 semapv:UnspecifiedMatching +obo:GARD_19531 Musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 semapv:UnspecifiedMatching +obo:GARD_19532 Dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 semapv:UnspecifiedMatching +obo:GARD_19533 Craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 semapv:UnspecifiedMatching +obo:GARD_19534 Lens size anomaly skos:exactMatch Orphanet:98652 semapv:UnspecifiedMatching +obo:GARD_19535 Lens position anomaly skos:exactMatch Orphanet:98653 semapv:UnspecifiedMatching +obo:GARD_19536 Lens shape anomaly skos:exactMatch Orphanet:98655 semapv:UnspecifiedMatching +obo:GARD_19537 Color-vision disease skos:exactMatch Orphanet:98658 semapv:UnspecifiedMatching +obo:GARD_19538 Syndromic rod-cone dystrophy skos:exactMatch Orphanet:98661 semapv:UnspecifiedMatching +obo:GARD_19539 Vitreoretinopathy skos:exactMatch Orphanet:98668 semapv:UnspecifiedMatching +obo:GARD_19540 Hereditary optic neuropathy skos:exactMatch Orphanet:98671 semapv:UnspecifiedMatching +obo:GARD_19541 Rare disorder with strabismus skos:exactMatch Orphanet:98681 semapv:UnspecifiedMatching +obo:GARD_19542 Syndromic disorder with strabismus skos:exactMatch Orphanet:98683 semapv:UnspecifiedMatching +obo:GARD_19543 Craniostenosis with strabismus skos:exactMatch Orphanet:98684 semapv:UnspecifiedMatching +obo:GARD_19544 Rare oculomotor nerve disorder skos:exactMatch Orphanet:98685 semapv:UnspecifiedMatching +obo:GARD_19545 Congenital trochlear nerve palsy skos:exactMatch Orphanet:98686 semapv:UnspecifiedMatching +obo:GARD_19546 Supranuclear eye movement disorder skos:exactMatch Orphanet:98687 semapv:UnspecifiedMatching +obo:GARD_19547 Oculomotor apraxia skos:exactMatch Orphanet:98688 semapv:UnspecifiedMatching +obo:GARD_19548 Oculocutaneous or ocular albinism skos:exactMatch Orphanet:98706 semapv:UnspecifiedMatching +obo:GARD_19549 Uveitis skos:exactMatch Orphanet:98715 semapv:UnspecifiedMatching +obo:GARD_19550 Heart position anomaly skos:exactMatch Orphanet:98716 semapv:UnspecifiedMatching +obo:GARD_19551 Transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 semapv:UnspecifiedMatching +obo:GARD_19552 Aortic malformation skos:exactMatch Orphanet:98718 semapv:UnspecifiedMatching +obo:GARD_19553 Pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 semapv:UnspecifiedMatching +obo:GARD_19554 Atrioventricular valve anomaly skos:exactMatch Orphanet:98720 semapv:UnspecifiedMatching +obo:GARD_19555 Congenital tricuspid malformation skos:exactMatch Orphanet:98721 semapv:UnspecifiedMatching +obo:GARD_19556 Congenital anomaly of the great arteries skos:exactMatch Orphanet:98724 semapv:UnspecifiedMatching +obo:GARD_19557 Ascending aorta anomaly skos:exactMatch Orphanet:98725 semapv:UnspecifiedMatching +obo:GARD_19558 Rare atrial defect and interatrial communication skos:exactMatch Orphanet:98727 semapv:UnspecifiedMatching +obo:GARD_19559 Congenital pulmonary veins anomaly skos:exactMatch Orphanet:98729 semapv:UnspecifiedMatching +obo:GARD_19560 Congenital arteriovenous fistula skos:exactMatch Orphanet:98731 semapv:UnspecifiedMatching +obo:GARD_19561 Noonan syndrome and Noonan-related syndrome skos:exactMatch Orphanet:98733 semapv:UnspecifiedMatching +obo:GARD_19562 Genetic neurological muscular channelopathy skos:exactMatch Orphanet:98737 semapv:UnspecifiedMatching +obo:GARD_19563 Neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch Orphanet:98738 semapv:UnspecifiedMatching +obo:GARD_19564 Neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch Orphanet:98739 semapv:UnspecifiedMatching +obo:GARD_19565 Neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch Orphanet:98740 semapv:UnspecifiedMatching +obo:GARD_19566 Neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch Orphanet:98741 semapv:UnspecifiedMatching +obo:GARD_19567 Neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:exactMatch Orphanet:98742 semapv:UnspecifiedMatching +obo:GARD_19568 Genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 semapv:UnspecifiedMatching +obo:GARD_19569 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect skos:exactMatch Orphanet:98744 semapv:UnspecifiedMatching +obo:GARD_19570 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect skos:exactMatch Orphanet:98745 semapv:UnspecifiedMatching +obo:GARD_19571 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect skos:exactMatch Orphanet:98746 semapv:UnspecifiedMatching +obo:GARD_19572 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect skos:exactMatch Orphanet:98747 semapv:UnspecifiedMatching +obo:GARD_19573 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect skos:exactMatch Orphanet:98748 semapv:UnspecifiedMatching +obo:GARD_19574 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect skos:exactMatch Orphanet:98749 semapv:UnspecifiedMatching +obo:GARD_19575 Autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 semapv:UnspecifiedMatching +obo:GARD_19576 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:exactMatch Orphanet:98793 semapv:UnspecifiedMatching +obo:GARD_19577 Angelman syndrome due to maternal 15q11q13 deletion skos:exactMatch Orphanet:98794 semapv:UnspecifiedMatching +obo:GARD_19578 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98795 semapv:UnspecifiedMatching +obo:GARD_19579 Isochromosomy Yp skos:exactMatch Orphanet:98797 semapv:UnspecifiedMatching +obo:GARD_19580 Isochromosomy Yq skos:exactMatch Orphanet:98798 semapv:UnspecifiedMatching +obo:GARD_19581 Benign childhood occipital epilepsy, Panayiotopoulos type skos:exactMatch Orphanet:98815 semapv:UnspecifiedMatching +obo:GARD_19582 Benign childhood occipital epilepsy, Gastaut type skos:exactMatch Orphanet:98816 semapv:UnspecifiedMatching +obo:GARD_19583 Atypical chronic myeloid leukemia skos:exactMatch Orphanet:98824 semapv:UnspecifiedMatching +obo:GARD_19584 Unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 semapv:UnspecifiedMatching +obo:GARD_19585 Refractory anemia skos:exactMatch Orphanet:98826 semapv:UnspecifiedMatching +obo:GARD_19586 Unclassified myelodysplastic syndrome skos:exactMatch Orphanet:98827 semapv:UnspecifiedMatching +obo:GARD_19587 Acute myeloid leukemia with 11q23 abnormalities skos:exactMatch Orphanet:98831 semapv:UnspecifiedMatching +obo:GARD_19588 Acute myeloid leukemia with minimal differentiation skos:exactMatch Orphanet:98832 semapv:UnspecifiedMatching +obo:GARD_19589 Primary mediastinal large B-cell lymphoma skos:exactMatch Orphanet:98838 semapv:UnspecifiedMatching +obo:GARD_19590 Intravascular large B-cell lymphoma skos:exactMatch Orphanet:98839 semapv:UnspecifiedMatching +obo:GARD_19591 Classic Hodgkin lymphoma, nodular sclerosis type skos:exactMatch Orphanet:98843 semapv:UnspecifiedMatching +obo:GARD_19592 Classic Hodgkin lymphoma, mixed cellularity type skos:exactMatch Orphanet:98844 semapv:UnspecifiedMatching +obo:GARD_19593 Classic Hodgkin lymphoma, lymphocyte-rich type skos:exactMatch Orphanet:98845 semapv:UnspecifiedMatching +obo:GARD_19594 Classic Hodgkin lymphoma, lymphocyte-depleted type skos:exactMatch Orphanet:98846 semapv:UnspecifiedMatching +obo:GARD_19595 Indolent systemic mastocytosis skos:exactMatch Orphanet:98848 semapv:UnspecifiedMatching +obo:GARD_19596 Systemic mastocytosis with associated hematologic neoplasm skos:exactMatch Orphanet:98849 semapv:UnspecifiedMatching +obo:GARD_19597 Aggressive systemic mastocytosis skos:exactMatch Orphanet:98850 semapv:UnspecifiedMatching +obo:GARD_19598 Mast cell leukemia skos:exactMatch Orphanet:98851 semapv:UnspecifiedMatching +obo:GARD_19599 X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 semapv:UnspecifiedMatching +obo:GARD_19600 Alpha-crystallinopathy skos:exactMatch Orphanet:98910 semapv:UnspecifiedMatching +obo:GARD_19601 Acute motor and sensory axonal neuropathy skos:exactMatch Orphanet:98917 semapv:UnspecifiedMatching +obo:GARD_19602 Acute motor axonal neuropathy skos:exactMatch Orphanet:98918 semapv:UnspecifiedMatching +obo:GARD_19603 Blake pouch cyst skos:exactMatch Orphanet:98922 semapv:UnspecifiedMatching +obo:GARD_19604 Multiple system atrophy, parkinsonian type skos:exactMatch Orphanet:98933 semapv:UnspecifiedMatching +obo:GARD_19605 Coloboma of eyelid skos:exactMatch Orphanet:98946 semapv:UnspecifiedMatching +obo:GARD_19606 Congenital symblepharon skos:exactMatch Orphanet:98948 semapv:UnspecifiedMatching +obo:GARD_19607 Partial cryptophthalmia skos:exactMatch Orphanet:98950 semapv:UnspecifiedMatching +obo:GARD_19608 Inverse Marcus-Gunn phenomenon skos:exactMatch Orphanet:98951 semapv:UnspecifiedMatching +obo:GARD_19609 Climatic droplet keratopathy skos:exactMatch Orphanet:98958 semapv:UnspecifiedMatching +obo:GARD_19610 Congenital hereditary endothelial dystrophy type I skos:exactMatch Orphanet:98975 semapv:UnspecifiedMatching +obo:GARD_19611 Essential iris atrophy skos:exactMatch Orphanet:98981 semapv:UnspecifiedMatching +obo:GARD_19612 Multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch Orphanet:99003 semapv:UnspecifiedMatching +obo:GARD_19613 Fundus pulverulentus skos:exactMatch Orphanet:99004 semapv:UnspecifiedMatching +obo:GARD_19614 Congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch Orphanet:99042 semapv:UnspecifiedMatching +obo:GARD_19615 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:exactMatch Orphanet:99043 semapv:UnspecifiedMatching +obo:GARD_19616 Double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch Orphanet:99045 semapv:UnspecifiedMatching +obo:GARD_19617 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch Orphanet:99046 semapv:UnspecifiedMatching +obo:GARD_19618 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome skos:exactMatch Orphanet:99048 semapv:UnspecifiedMatching +obo:GARD_19619 Pulmonary artery coming from patent ductus arteriosus skos:exactMatch Orphanet:99049 semapv:UnspecifiedMatching +obo:GARD_19620 Discrete fibromuscular subaortic stenosis skos:exactMatch Orphanet:99052 semapv:UnspecifiedMatching +obo:GARD_19621 Tunnel subaortic stenosis skos:exactMatch Orphanet:99053 semapv:UnspecifiedMatching +obo:GARD_19622 Valvular pulmonary stenosis skos:exactMatch Orphanet:99054 semapv:UnspecifiedMatching +obo:GARD_19623 Congenital anomaly of the tricuspid valve chordae skos:exactMatch Orphanet:99055 semapv:UnspecifiedMatching +obo:GARD_19624 Parachute tricuspid valve skos:exactMatch Orphanet:99056 semapv:UnspecifiedMatching +obo:GARD_19625 Hypoplasia of the mitral valve annulus skos:exactMatch Orphanet:99058 semapv:UnspecifiedMatching +obo:GARD_19626 Congenital supravalvular mitral ring skos:exactMatch Orphanet:99059 semapv:UnspecifiedMatching +obo:GARD_19627 Congenital unguarded mitral orifice skos:exactMatch Orphanet:99060 semapv:UnspecifiedMatching +obo:GARD_19628 Accessory mitral valve tissue skos:exactMatch Orphanet:99061 semapv:UnspecifiedMatching +obo:GARD_19629 Mitral valve agenesis skos:exactMatch Orphanet:99062 semapv:UnspecifiedMatching +obo:GARD_19630 Shone complex skos:exactMatch Orphanet:99063 semapv:UnspecifiedMatching +obo:GARD_19631 Straddling and/or overriding mitral valve skos:exactMatch Orphanet:99064 semapv:UnspecifiedMatching +obo:GARD_19632 Aorto-right ventricular tunnel skos:exactMatch Orphanet:99070 semapv:UnspecifiedMatching +obo:GARD_19633 Aorto-left ventricular tunnel skos:exactMatch Orphanet:99071 semapv:UnspecifiedMatching +obo:GARD_19634 Congenital patent ductus arteriosus aneurysm skos:exactMatch Orphanet:99072 semapv:UnspecifiedMatching +obo:GARD_19635 Encircling double aortic arch skos:exactMatch Orphanet:99075 semapv:UnspecifiedMatching +obo:GARD_19636 Persistent fifth aortic arch skos:exactMatch Orphanet:99076 semapv:UnspecifiedMatching +obo:GARD_19637 Kommerell diverticulum skos:exactMatch Orphanet:99077 semapv:UnspecifiedMatching +obo:GARD_19638 Neuhauser anomaly skos:exactMatch Orphanet:99078 semapv:UnspecifiedMatching +obo:GARD_19639 Cervical aortic arch skos:exactMatch Orphanet:99079 semapv:UnspecifiedMatching +obo:GARD_19640 Right aortic arch skos:exactMatch Orphanet:99081 semapv:UnspecifiedMatching +obo:GARD_19641 Dysphagia lusoria skos:exactMatch Orphanet:99082 semapv:UnspecifiedMatching +obo:GARD_19642 Pulmonary artery hypoplasia skos:exactMatch Orphanet:99083 semapv:UnspecifiedMatching +obo:GARD_19643 Coronary ostial stenosis or atresia skos:exactMatch Orphanet:99087 semapv:UnspecifiedMatching +obo:GARD_19644 Abnormal number of coronary ostia skos:exactMatch Orphanet:99089 semapv:UnspecifiedMatching +obo:GARD_19645 Malposition of a coronary ostium skos:exactMatch Orphanet:99090 semapv:UnspecifiedMatching +obo:GARD_19646 Laubry-Pezzi syndrome skos:exactMatch Orphanet:99094 semapv:UnspecifiedMatching +obo:GARD_19647 Congenital Gerbode defect skos:exactMatch Orphanet:99095 semapv:UnspecifiedMatching +obo:GARD_19648 Juxtaposition of the atrial appendages skos:exactMatch Orphanet:99100 semapv:UnspecifiedMatching +obo:GARD_19649 Ectasia of the right atrial appendage skos:exactMatch Orphanet:99101 semapv:UnspecifiedMatching +obo:GARD_19650 Ectasia of the left atrial appendage skos:exactMatch Orphanet:99102 semapv:UnspecifiedMatching +obo:GARD_19651 Atrial septal aneurysm skos:exactMatch Orphanet:99107 semapv:UnspecifiedMatching +obo:GARD_19652 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium skos:exactMatch Orphanet:99109 semapv:UnspecifiedMatching +obo:GARD_19653 Right superior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99110 semapv:UnspecifiedMatching +obo:GARD_19654 Persistent left superior vena cava connecting to the roof of left-sided atrium skos:exactMatch Orphanet:99111 semapv:UnspecifiedMatching +obo:GARD_19655 Absence of innominate vein skos:exactMatch Orphanet:99112 semapv:UnspecifiedMatching +obo:GARD_19656 Subaortic course of innominate vein skos:exactMatch Orphanet:99113 semapv:UnspecifiedMatching +obo:GARD_19657 Agenesis of the superior vena cava skos:exactMatch Orphanet:99114 semapv:UnspecifiedMatching +obo:GARD_19658 Coronary sinus stenosis skos:exactMatch Orphanet:99117 semapv:UnspecifiedMatching +obo:GARD_19659 Coronary sinus atresia skos:exactMatch Orphanet:99118 semapv:UnspecifiedMatching +obo:GARD_19660 Right inferior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99119 semapv:UnspecifiedMatching +obo:GARD_19661 Persistent eustachian valve skos:exactMatch Orphanet:99120 semapv:UnspecifiedMatching +obo:GARD_19662 Azygos continuation of the inferior vena cava skos:exactMatch Orphanet:99121 semapv:UnspecifiedMatching +obo:GARD_19663 Congenital stenosis of the inferior vena cava skos:exactMatch Orphanet:99122 semapv:UnspecifiedMatching +obo:GARD_19664 Inferior vena cava interruption without azygos continuation skos:exactMatch Orphanet:99123 semapv:UnspecifiedMatching +obo:GARD_19665 Congenital partial pulmonary venous return anomaly skos:exactMatch Orphanet:99124 semapv:UnspecifiedMatching +obo:GARD_19666 Congenital complete agenesis of pericardium skos:exactMatch Orphanet:99129 semapv:UnspecifiedMatching +obo:GARD_19667 Congenital partial agenesis of pericardium skos:exactMatch Orphanet:99130 semapv:UnspecifiedMatching +obo:GARD_19668 Pleuro-pericardial cyst skos:exactMatch Orphanet:99131 semapv:UnspecifiedMatching +obo:GARD_19669 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch Orphanet:99138 semapv:UnspecifiedMatching +obo:GARD_19670 Unstable hemoglobin disease skos:exactMatch Orphanet:99139 semapv:UnspecifiedMatching +obo:GARD_19671 Epiblepharon skos:exactMatch Orphanet:99169 semapv:UnspecifiedMatching +obo:GARD_19672 Tarsal kink syndrome skos:exactMatch Orphanet:99170 semapv:UnspecifiedMatching +obo:GARD_19673 Isolated congenital ectropion skos:exactMatch Orphanet:99171 semapv:UnspecifiedMatching +obo:GARD_19674 Euryblepharon skos:exactMatch Orphanet:99172 semapv:UnspecifiedMatching +obo:GARD_19675 Congenital eyelid retraction skos:exactMatch Orphanet:99176 semapv:UnspecifiedMatching +obo:GARD_19676 Monosomy X skos:exactMatch Orphanet:99226 semapv:UnspecifiedMatching +obo:GARD_19677 Mosaic monosomy X skos:exactMatch Orphanet:99228 semapv:UnspecifiedMatching +obo:GARD_19678 Paternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:99324 semapv:UnspecifiedMatching +obo:GARD_19679 49,XYYYY syndrome skos:exactMatch Orphanet:99330 semapv:UnspecifiedMatching +obo:GARD_19680 Pituitary adenoma skos:exactMatch Orphanet:99408 semapv:UnspecifiedMatching +obo:GARD_19681 Turner syndrome due to structural X chromosome anomalies skos:exactMatch Orphanet:99413 semapv:UnspecifiedMatching +obo:GARD_19682 Cheirospondyloenchondromatosis skos:exactMatch Orphanet:99647 semapv:UnspecifiedMatching +obo:GARD_19683 Dermotrichic syndrome skos:exactMatch Orphanet:99688 semapv:UnspecifiedMatching +obo:GARD_19684 Mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch Orphanet:99701 semapv:UnspecifiedMatching +obo:GARD_19685 Early-onset obesity-hyperphagia-severe developmental delay syndrome skos:exactMatch Orphanet:99704 semapv:UnspecifiedMatching +obo:GARD_19686 Rare familial disorder with hypertrophic cardiomyopathy skos:exactMatch Orphanet:99739 semapv:UnspecifiedMatching +obo:GARD_19687 Bifid uvula skos:exactMatch Orphanet:99771 semapv:UnspecifiedMatching +obo:GARD_19688 Lassa fever skos:exactMatch Orphanet:99824 semapv:UnspecifiedMatching +obo:GARD_19689 Nipah virus disease skos:exactMatch Orphanet:99825 semapv:UnspecifiedMatching +obo:GARD_19690 Crimean-Congo hemorrhagic fever skos:exactMatch Orphanet:99827 semapv:UnspecifiedMatching +obo:GARD_19691 Primary syringomyelia skos:exactMatch Orphanet:99856 semapv:UnspecifiedMatching +obo:GARD_19692 Secondary syringomyelia skos:exactMatch Orphanet:99857 semapv:UnspecifiedMatching +obo:GARD_19693 Idiopathic syringomyelia skos:exactMatch Orphanet:99858 semapv:UnspecifiedMatching +obo:GARD_19694 Precursor T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 semapv:UnspecifiedMatching +obo:GARD_19695 Thymic carcinoma skos:exactMatch Orphanet:99868 semapv:UnspecifiedMatching +obo:GARD_19696 Thymic neuroendocrine carcinoma skos:exactMatch Orphanet:99869 semapv:UnspecifiedMatching +obo:GARD_19697 Acute megakaryoblastic leukemia in Down syndrome skos:exactMatch Orphanet:99887 semapv:UnspecifiedMatching +obo:GARD_19698 Cushing syndrome due to ectopic ACTH secretion skos:exactMatch Orphanet:99889 semapv:UnspecifiedMatching +obo:GARD_19699 ACTH-dependent Cushing syndrome skos:exactMatch Orphanet:99892 semapv:UnspecifiedMatching +obo:GARD_19700 ACTH-independent Cushing syndrome skos:exactMatch Orphanet:99893 semapv:UnspecifiedMatching +obo:GARD_19701 Spirillary rat-bite fever skos:exactMatch Orphanet:99903 semapv:UnspecifiedMatching +obo:GARD_19702 Streptobacillary rat-bite fever skos:exactMatch Orphanet:99905 semapv:UnspecifiedMatching +obo:GARD_19703 House allergic alveolitis skos:exactMatch Orphanet:99907 semapv:UnspecifiedMatching +obo:GARD_19704 Occupational allergic alveolitis skos:exactMatch Orphanet:99909 semapv:UnspecifiedMatching +obo:GARD_19705 Malignant dysgerminomatous germ cell tumor of the ovary skos:exactMatch Orphanet:99912 semapv:UnspecifiedMatching +obo:GARD_19706 Extragonadal non-dysgerminomatous germ cell tumor skos:exactMatch Orphanet:99913 semapv:UnspecifiedMatching +obo:GARD_19707 Maligant granulosa cell tumor of the ovary skos:exactMatch Orphanet:99915 semapv:UnspecifiedMatching +obo:GARD_19708 Theca steroid-producing cell malignant tumor of ovary, not further specified skos:exactMatch Orphanet:99917 semapv:UnspecifiedMatching +obo:GARD_19709 Streptococcal toxic-shock syndrome skos:exactMatch Orphanet:99918 semapv:UnspecifiedMatching +obo:GARD_19710 Staphylococcal toxic-shock syndrome skos:exactMatch Orphanet:99919 semapv:UnspecifiedMatching +obo:GARD_19711 Invasive mole skos:exactMatch Orphanet:99925 semapv:UnspecifiedMatching +obo:GARD_19712 Gestational choriocarcinoma skos:exactMatch Orphanet:99926 semapv:UnspecifiedMatching +obo:GARD_19713 Secondary pulmonary hemosiderosis skos:exactMatch Orphanet:99930 semapv:UnspecifiedMatching +obo:GARD_19714 Heiner syndrome skos:exactMatch Orphanet:99932 semapv:UnspecifiedMatching +obo:GARD_19715 Pleuropulmonary blastoma type 1 skos:exactMatch Orphanet:99933 semapv:UnspecifiedMatching +obo:GARD_19716 Pleuropulmonary blastoma type 2 skos:exactMatch Orphanet:99934 semapv:UnspecifiedMatching +obo:GARD_19717 Pleuropulmonary blastoma type 3 skos:exactMatch Orphanet:99935 semapv:UnspecifiedMatching +obo:GARD_19718 O'Sullivan-McLeod syndrome skos:exactMatch Orphanet:99965 semapv:UnspecifiedMatching +obo:GARD_19719 Pleomorphic liposarcoma skos:exactMatch Orphanet:99969 semapv:UnspecifiedMatching +obo:GARD_19720 Dedifferentiated liposarcoma skos:exactMatch Orphanet:99970 semapv:UnspecifiedMatching +obo:GARD_19721 Well-differentiated liposarcoma skos:exactMatch Orphanet:99971 semapv:UnspecifiedMatching +obo:GARD_19722 Apnea of prematurity skos:exactMatch Orphanet:99981 semapv:UnspecifiedMatching +obo:GARD_19723 Cutaneous myiasis skos:exactMatch Orphanet:99983 semapv:UnspecifiedMatching +obo:GARD_19724 Intermediate DEND syndrome skos:exactMatch Orphanet:99989 semapv:UnspecifiedMatching +obo:GARD_19725 Brill-Zinsser disease skos:exactMatch Orphanet:99990 semapv:UnspecifiedMatching +obo:GARD_19726 Relapsing epidemic typhus skos:exactMatch Orphanet:99991 semapv:UnspecifiedMatching +obo:GARD_19727 Complex regional pain syndrome type 2 skos:exactMatch Orphanet:99994 semapv:UnspecifiedMatching +obo:GARD_19728 Reticular perineurioma skos:exactMatch Orphanet:100000 semapv:UnspecifiedMatching +obo:GARD_19729 Sclerosing perineurioma skos:exactMatch Orphanet:100001 semapv:UnspecifiedMatching +obo:GARD_19730 Extraneural perineurioma skos:exactMatch Orphanet:100002 semapv:UnspecifiedMatching +obo:GARD_19731 Lissencephaly with cerebellar hypoplasia type A skos:exactMatch Orphanet:100011 semapv:UnspecifiedMatching +obo:GARD_19732 Lissencephaly with cerebellar hypoplasia type B skos:exactMatch Orphanet:100012 semapv:UnspecifiedMatching +obo:GARD_19733 Lissencephaly with cerebellar hypoplasia type C skos:exactMatch Orphanet:100013 semapv:UnspecifiedMatching +obo:GARD_19734 Lissencephaly with cerebellar hypoplasia type D skos:exactMatch Orphanet:100014 semapv:UnspecifiedMatching +obo:GARD_19735 Lissencephaly with cerebellar hypoplasia type E skos:exactMatch Orphanet:100015 semapv:UnspecifiedMatching +obo:GARD_19736 Lissencephaly with cerebellar hypoplasia type F skos:exactMatch Orphanet:100016 semapv:UnspecifiedMatching +obo:GARD_19737 Refractory anemia with excess blasts type 1 skos:exactMatch Orphanet:100019 semapv:UnspecifiedMatching +obo:GARD_19738 Refractory anemia with excess blasts type 2 skos:exactMatch Orphanet:100020 semapv:UnspecifiedMatching +obo:GARD_19739 Primary plasmacytoma of the bone skos:exactMatch Orphanet:100021 semapv:UnspecifiedMatching +obo:GARD_19740 Extramedullary soft tissue plasmacytoma skos:exactMatch Orphanet:100022 semapv:UnspecifiedMatching +obo:GARD_19741 Mu-heavy chain disease skos:exactMatch Orphanet:100024 semapv:UnspecifiedMatching +obo:GARD_19742 Alpha-heavy chain disease skos:exactMatch Orphanet:100025 semapv:UnspecifiedMatching +obo:GARD_19743 Solitary necrotic nodule of the liver skos:exactMatch Orphanet:100035 semapv:UnspecifiedMatching +obo:GARD_19744 Esophageal duplication cyst skos:exactMatch Orphanet:100047 semapv:UnspecifiedMatching +obo:GARD_19745 Tubular duplication of the esophagus skos:exactMatch Orphanet:100048 semapv:UnspecifiedMatching +obo:GARD_19746 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies skos:exactMatch Orphanet:100049 semapv:UnspecifiedMatching +obo:GARD_19747 Acquired angioedema type 2 skos:exactMatch Orphanet:100055 semapv:UnspecifiedMatching +obo:GARD_19748 Acquired angioedema type 1 skos:exactMatch Orphanet:100056 semapv:UnspecifiedMatching +obo:GARD_19749 Neurogenic thoracic outlet syndrome skos:exactMatch Orphanet:100073 semapv:UnspecifiedMatching +obo:GARD_1975 Duplication of urethra skos:exactMatch Orphanet:237 semapv:UnspecifiedMatching +obo:GARD_19750 Neuroendocrine tumor of stomach skos:exactMatch Orphanet:100075 semapv:UnspecifiedMatching +obo:GARD_19751 Duodenal neuroendocrine tumor skos:exactMatch Orphanet:100076 semapv:UnspecifiedMatching +obo:GARD_19752 Jejunal neuroendocrine tumor skos:exactMatch Orphanet:100077 semapv:UnspecifiedMatching +obo:GARD_19753 Ileal neuroendocrine tumor skos:exactMatch Orphanet:100078 semapv:UnspecifiedMatching +obo:GARD_19754 Neuroendocrine neoplasm of appendix skos:exactMatch Orphanet:100079 semapv:UnspecifiedMatching +obo:GARD_19755 Neuroendocrine tumor of the colon skos:exactMatch Orphanet:100080 semapv:UnspecifiedMatching +obo:GARD_19756 Neuroendocrine tumor of the rectum skos:exactMatch Orphanet:100081 semapv:UnspecifiedMatching +obo:GARD_19757 Neuroendocrine tumor of anal canal skos:exactMatch Orphanet:100082 semapv:UnspecifiedMatching +obo:GARD_19758 Laryngeal neuroendocrine tumor skos:exactMatch Orphanet:100083 semapv:UnspecifiedMatching +obo:GARD_19759 Middle ear neuroendocrine tumor skos:exactMatch Orphanet:100084 semapv:UnspecifiedMatching +obo:GARD_19760 Primary hepatic neuroendocrine carcinoma skos:exactMatch Orphanet:100085 semapv:UnspecifiedMatching +obo:GARD_19761 Gallbladder neuroendocrine tumor skos:exactMatch Orphanet:100086 semapv:UnspecifiedMatching +obo:GARD_19762 Thyroid tumor skos:exactMatch Orphanet:100087 semapv:UnspecifiedMatching +obo:GARD_19763 Thyroid carcinoma skos:exactMatch Orphanet:100088 semapv:UnspecifiedMatching +obo:GARD_19764 Rare parathyroid tumor skos:exactMatch Orphanet:100090 semapv:UnspecifiedMatching +obo:GARD_19765 Adrenal/paraganglial tumor skos:exactMatch Orphanet:100091 semapv:UnspecifiedMatching +obo:GARD_19766 Multiple polyglandular tumor skos:exactMatch Orphanet:100094 semapv:UnspecifiedMatching +obo:GARD_19767 Thymic tumor skos:exactMatch Orphanet:100100 semapv:UnspecifiedMatching +obo:GARD_19768 Neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 semapv:UnspecifiedMatching +obo:GARD_19769 FRAXF syndrome skos:exactMatch Orphanet:100974 semapv:UnspecifiedMatching +obo:GARD_19770 Autosomal dominant complex spastic paraplegia skos:exactMatch Orphanet:100979 semapv:UnspecifiedMatching +obo:GARD_19771 Autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 semapv:UnspecifiedMatching +obo:GARD_19772 Autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 semapv:UnspecifiedMatching +obo:GARD_19773 Autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 semapv:UnspecifiedMatching +obo:GARD_19774 Cleft hard palate skos:exactMatch Orphanet:101023 semapv:UnspecifiedMatching +obo:GARD_19775 Sub-cortical nodular heterotopia skos:exactMatch Orphanet:101029 semapv:UnspecifiedMatching +obo:GARD_19776 Congenital aortic valve dysplasia skos:exactMatch Orphanet:101043 semapv:UnspecifiedMatching +obo:GARD_19777 Unilateral hemispheric polymicrogyria skos:exactMatch Orphanet:101071 semapv:UnspecifiedMatching +obo:GARD_19778 Aregenerative anemia skos:exactMatch Orphanet:101096 semapv:UnspecifiedMatching +obo:GARD_19779 Marin-Amat syndrome skos:exactMatch Orphanet:101104 semapv:UnspecifiedMatching +obo:GARD_19780 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome skos:exactMatch Orphanet:101206 semapv:UnspecifiedMatching +obo:GARD_19781 African tick typhus skos:exactMatch Orphanet:101334 semapv:UnspecifiedMatching +obo:GARD_19782 Rare genetic eye disease skos:exactMatch Orphanet:101435 semapv:UnspecifiedMatching +obo:GARD_19783 Rare non-syndromic intellectual disability skos:exactMatch Orphanet:101685 semapv:UnspecifiedMatching +obo:GARD_19784 Anomaly of the mitral subvalvular apparatus skos:exactMatch Orphanet:101932 semapv:UnspecifiedMatching +obo:GARD_19785 Genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 semapv:UnspecifiedMatching +obo:GARD_19786 Rare gastroesophageal disease skos:exactMatch Orphanet:101936 semapv:UnspecifiedMatching +obo:GARD_19787 Rare pancreatic disease skos:exactMatch Orphanet:101937 semapv:UnspecifiedMatching +obo:GARD_19788 Rare vascular liver disease skos:exactMatch Orphanet:101938 semapv:UnspecifiedMatching +obo:GARD_19789 Rare parenchymal liver disease skos:exactMatch Orphanet:101939 semapv:UnspecifiedMatching +obo:GARD_19790 Rare metabolic liver disease skos:exactMatch Orphanet:101940 semapv:UnspecifiedMatching +obo:GARD_19791 Rare biliary tract disease skos:exactMatch Orphanet:101941 semapv:UnspecifiedMatching +obo:GARD_19792 Rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 semapv:UnspecifiedMatching +obo:GARD_19793 Rare pulmonary disease skos:exactMatch Orphanet:101944 semapv:UnspecifiedMatching +obo:GARD_19794 Rare bronchopulmonary tumor skos:exactMatch Orphanet:101945 semapv:UnspecifiedMatching +obo:GARD_19795 Rare eye tumor skos:exactMatch Orphanet:101950 semapv:UnspecifiedMatching +obo:GARD_19796 Rare diabetes mellitus skos:exactMatch Orphanet:101952 semapv:UnspecifiedMatching +obo:GARD_19797 Rare dyslipidemia skos:exactMatch Orphanet:101953 semapv:UnspecifiedMatching +obo:GARD_19798 Rare adrenal disease skos:exactMatch Orphanet:101954 semapv:UnspecifiedMatching +obo:GARD_19799 Rare thyroid disease skos:exactMatch Orphanet:101955 semapv:UnspecifiedMatching +obo:GARD_198 Proximal spinal muscular atrophy type 3 skos:exactMatch Orphanet:83419 semapv:UnspecifiedMatching +obo:GARD_198 Proximal spinal muscular atrophy type 3 skos:narrowMatch OMIM:253400 semapv:UnspecifiedMatching +obo:GARD_19800 Polyendocrinopathy skos:exactMatch Orphanet:101956 semapv:UnspecifiedMatching +obo:GARD_19801 Pituitary deficiency skos:exactMatch Orphanet:101957 semapv:UnspecifiedMatching +obo:GARD_19802 Primary adrenal insufficiency skos:exactMatch Orphanet:101958 semapv:UnspecifiedMatching +obo:GARD_19803 Chronic primary adrenal insufficiency skos:exactMatch Orphanet:101959 semapv:UnspecifiedMatching +obo:GARD_19804 Genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 semapv:UnspecifiedMatching +obo:GARD_19805 Acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 semapv:UnspecifiedMatching +obo:GARD_19806 Combined T and B cell immunodeficiency skos:exactMatch Orphanet:101972 semapv:UnspecifiedMatching +obo:GARD_19807 Immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 semapv:UnspecifiedMatching +obo:GARD_19808 Quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 semapv:UnspecifiedMatching +obo:GARD_19809 Constitutional neutropenia skos:exactMatch Orphanet:101987 semapv:UnspecifiedMatching +obo:GARD_19810 Primary immunodeficiency due to a defect in innate immunity skos:exactMatch Orphanet:101988 semapv:UnspecifiedMatching +obo:GARD_19811 Immunodeficiency due to a complement cascade protein anomaly skos:exactMatch Orphanet:101992 semapv:UnspecifiedMatching +obo:GARD_19812 Periodic fever syndrome skos:exactMatch Orphanet:101995 semapv:UnspecifiedMatching +obo:GARD_19813 Primary immunodeficiency skos:exactMatch Orphanet:101997 semapv:UnspecifiedMatching +obo:GARD_19814 Rare epilepsy skos:exactMatch Orphanet:101998 semapv:UnspecifiedMatching +obo:GARD_19815 Medullar disease skos:exactMatch Orphanet:102000 semapv:UnspecifiedMatching +obo:GARD_19816 Rare ataxia skos:exactMatch Orphanet:102002 semapv:UnspecifiedMatching +obo:GARD_19817 Rare movement disorder skos:exactMatch Orphanet:102003 semapv:UnspecifiedMatching +obo:GARD_19818 Brain inflammatory disease skos:exactMatch Orphanet:102005 semapv:UnspecifiedMatching +obo:GARD_19819 Neurovascular malformation skos:exactMatch Orphanet:102006 semapv:UnspecifiedMatching +obo:GARD_19820 Other syndrome with lissencephaly as a major feature skos:exactMatch Orphanet:102010 semapv:UnspecifiedMatching +obo:GARD_19821 Lissencephaly type 3 skos:exactMatch Orphanet:102011 semapv:UnspecifiedMatching +obo:GARD_19822 Pure hereditary spastic paraplegia skos:exactMatch Orphanet:102012 semapv:UnspecifiedMatching +obo:GARD_19823 Complex hereditary spastic paraplegia skos:exactMatch Orphanet:102013 semapv:UnspecifiedMatching +obo:GARD_19824 Autosomal dominant limb-girdle muscular dystrophy skos:exactMatch Orphanet:102014 semapv:UnspecifiedMatching +obo:GARD_19825 Autosomal recessive limb-girdle muscular dystrophy skos:exactMatch Orphanet:102015 semapv:UnspecifiedMatching +obo:GARD_19826 Autosomal monosomy skos:exactMatch Orphanet:102020 semapv:UnspecifiedMatching +obo:GARD_19827 Rickettsial disease skos:exactMatch Orphanet:102021 semapv:UnspecifiedMatching +obo:GARD_19828 Spotted fever rickettsiosis skos:exactMatch Orphanet:102022 semapv:UnspecifiedMatching +obo:GARD_19829 Typhus-group rickettsiosis skos:exactMatch Orphanet:102023 semapv:UnspecifiedMatching +obo:GARD_19830 Human herpesvirus 8-related disorder skos:exactMatch Orphanet:102024 semapv:UnspecifiedMatching +obo:GARD_19831 Unexplained periodic fever syndrome skos:exactMatch Orphanet:102237 semapv:UnspecifiedMatching +obo:GARD_19832 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:102283 semapv:UnspecifiedMatching +obo:GARD_19833 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:102285 semapv:UnspecifiedMatching +obo:GARD_19834 Rare syndromic intellectual disability skos:exactMatch Orphanet:102369 semapv:UnspecifiedMatching +obo:GARD_19835 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch Orphanet:102379 semapv:UnspecifiedMatching +obo:GARD_19836 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch Orphanet:102381 semapv:UnspecifiedMatching +obo:GARD_19837 Acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch Orphanet:102724 semapv:UnspecifiedMatching +obo:GARD_19838 Chronic diarrhea due to glucoamylase deficiency skos:exactMatch Orphanet:103907 semapv:UnspecifiedMatching +obo:GARD_19839 Congenital enterocyte heparan sulfate deficiency skos:exactMatch Orphanet:103910 semapv:UnspecifiedMatching +obo:GARD_19840 Undetermined colitis skos:exactMatch Orphanet:103920 semapv:UnspecifiedMatching +obo:GARD_19841 Congenital intestinal transport defect skos:exactMatch Orphanet:104003 semapv:UnspecifiedMatching +obo:GARD_19842 Intestinal disease due to vitamin absorption anomaly skos:exactMatch Orphanet:104004 semapv:UnspecifiedMatching +obo:GARD_19843 Intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 semapv:UnspecifiedMatching +obo:GARD_19844 Congenital intestinal disease due to an enzymatic defect skos:exactMatch Orphanet:104006 semapv:UnspecifiedMatching +obo:GARD_19845 Congenital enteropathy involving intestinal mucosa development skos:exactMatch Orphanet:104007 semapv:UnspecifiedMatching +obo:GARD_19846 Rare disease involving intestinal motility skos:exactMatch Orphanet:104009 semapv:UnspecifiedMatching +obo:GARD_19847 Intestinal polyposis syndrome skos:exactMatch Orphanet:104010 semapv:UnspecifiedMatching +obo:GARD_19848 Rare tumor of intestine skos:exactMatch Orphanet:104011 semapv:UnspecifiedMatching +obo:GARD_19849 Rare inflammatory bowel disease skos:exactMatch Orphanet:104012 semapv:UnspecifiedMatching +obo:GARD_19850 Metabolic disease with intestinal involvement skos:exactMatch Orphanet:104013 semapv:UnspecifiedMatching +obo:GARD_19851 Adenocarcinoma of the small intestine skos:exactMatch Orphanet:104075 semapv:UnspecifiedMatching +obo:GARD_19852 Leiomyosarcoma of small intestine skos:exactMatch Orphanet:104076 semapv:UnspecifiedMatching +obo:GARD_19853 Myopathic intestinal pseudoobstruction skos:exactMatch Orphanet:104077 semapv:UnspecifiedMatching +obo:GARD_19854 Unclassified intestinal pseudoobstruction skos:exactMatch Orphanet:104078 semapv:UnspecifiedMatching +obo:GARD_19855 Non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 semapv:UnspecifiedMatching +obo:GARD_19856 Syndromic esophageal malformation skos:exactMatch Orphanet:108961 semapv:UnspecifiedMatching +obo:GARD_19857 Non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 semapv:UnspecifiedMatching +obo:GARD_19858 Syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 semapv:UnspecifiedMatching +obo:GARD_19859 Non-syndromic intestinal malformation skos:exactMatch Orphanet:108967 semapv:UnspecifiedMatching +obo:GARD_19860 Syndromic intestinal malformation skos:exactMatch Orphanet:108969 semapv:UnspecifiedMatching +obo:GARD_19861 Non-syndromic visceral malformation skos:exactMatch Orphanet:108971 semapv:UnspecifiedMatching +obo:GARD_19862 Syndromic visceral malformation skos:exactMatch Orphanet:108973 semapv:UnspecifiedMatching +obo:GARD_19863 Non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 semapv:UnspecifiedMatching +obo:GARD_19864 Syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 semapv:UnspecifiedMatching +obo:GARD_19865 Non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 semapv:UnspecifiedMatching +obo:GARD_19866 Syndrome with a central nervous system malformation as a major feature skos:exactMatch Orphanet:108991 semapv:UnspecifiedMatching +obo:GARD_19867 Non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 semapv:UnspecifiedMatching +obo:GARD_19868 Syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 semapv:UnspecifiedMatching +obo:GARD_19869 Rare anemia skos:exactMatch Orphanet:108997 semapv:UnspecifiedMatching +obo:GARD_19870 Arthrogryposis syndrome skos:exactMatch Orphanet:109007 semapv:UnspecifiedMatching +obo:GARD_19871 Syndrome with limb malformations as a major feature skos:exactMatch Orphanet:109009 semapv:UnspecifiedMatching +obo:GARD_19872 Non-syndromic limb malformation skos:exactMatch Orphanet:109011 semapv:UnspecifiedMatching +obo:GARD_19873 Rare intestinal disease skos:exactMatch Orphanet:117569 semapv:UnspecifiedMatching +obo:GARD_19874 Syndromic anorectal malformation skos:exactMatch Orphanet:117573 semapv:UnspecifiedMatching +obo:GARD_19875 Neonatal hypoxic and ischemic brain injury skos:exactMatch Orphanet:137577 semapv:UnspecifiedMatching +obo:GARD_19876 Vulvar intraepithelial neoplasia skos:exactMatch Orphanet:137583 semapv:UnspecifiedMatching +obo:GARD_19877 Infectious epithelial keratitis skos:exactMatch Orphanet:137593 semapv:UnspecifiedMatching +obo:GARD_19878 Neurotrophic keratopathy skos:exactMatch Orphanet:137596 semapv:UnspecifiedMatching +obo:GARD_19879 Herpes simplex virus stromal keratitis skos:exactMatch Orphanet:137599 semapv:UnspecifiedMatching +obo:GARD_19880 Corneal endotheliitis skos:exactMatch Orphanet:137602 semapv:UnspecifiedMatching +obo:GARD_19881 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch Orphanet:137608 semapv:UnspecifiedMatching +obo:GARD_19882 Intractable diarrhea-choanal atresia-eye anomalies syndrome skos:exactMatch Orphanet:137622 semapv:UnspecifiedMatching +obo:GARD_19883 Cardiac anomalies-heterotaxy syndrome skos:exactMatch Orphanet:137628 semapv:UnspecifiedMatching +obo:GARD_19884 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk skos:exactMatch Orphanet:137698 semapv:UnspecifiedMatching +obo:GARD_19885 Macular amyloidosis skos:exactMatch Orphanet:137814 semapv:UnspecifiedMatching +obo:GARD_19886 Extrapelvic endometriosis skos:exactMatch Orphanet:137820 semapv:UnspecifiedMatching +obo:GARD_19887 Madras motor neuron disease skos:exactMatch Orphanet:137867 semapv:UnspecifiedMatching +obo:GARD_19888 Syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 semapv:UnspecifiedMatching +obo:GARD_19889 Choanal atresia, unilateral skos:exactMatch Orphanet:137917 semapv:UnspecifiedMatching +obo:GARD_19890 Choanal atresia, bilateral skos:exactMatch Orphanet:137920 semapv:UnspecifiedMatching +obo:GARD_19891 Primary laryngeal lymphangioma skos:exactMatch Orphanet:137926 semapv:UnspecifiedMatching +obo:GARD_19892 Neonatal brainstem dysfunction skos:exactMatch Orphanet:137929 semapv:UnspecifiedMatching +obo:GARD_19893 Laryngotracheal angioma skos:exactMatch Orphanet:137935 semapv:UnspecifiedMatching +obo:GARD_19894 Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 semapv:UnspecifiedMatching +obo:GARD_19895 Rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 semapv:UnspecifiedMatching +obo:GARD_19896 Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 semapv:UnspecifiedMatching +obo:GARD_19897 Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 semapv:UnspecifiedMatching +obo:GARD_19898 Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 semapv:UnspecifiedMatching +obo:GARD_19899 Teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 semapv:UnspecifiedMatching +obo:GARD_19900 Developmental anomaly of metabolic origin skos:exactMatch Orphanet:139009 semapv:UnspecifiedMatching +obo:GARD_19901 Rare bone development disorder skos:exactMatch Orphanet:139012 semapv:UnspecifiedMatching +obo:GARD_19902 Malformation syndrome with short stature skos:exactMatch Orphanet:139021 semapv:UnspecifiedMatching +obo:GARD_19903 Overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 semapv:UnspecifiedMatching +obo:GARD_19904 Rare developmental defect with skin/mucosae involvement skos:exactMatch Orphanet:139027 semapv:UnspecifiedMatching +obo:GARD_19905 Rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 semapv:UnspecifiedMatching +obo:GARD_19906 Progeroid syndrome skos:exactMatch Orphanet:139033 semapv:UnspecifiedMatching +obo:GARD_19907 Branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 semapv:UnspecifiedMatching +obo:GARD_19908 Orofacial clefting syndrome skos:exactMatch Orphanet:139039 semapv:UnspecifiedMatching +obo:GARD_19909 Malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 semapv:UnspecifiedMatching +obo:GARD_19910 Non-syndromic craniosynostosis skos:exactMatch Orphanet:139390 semapv:UnspecifiedMatching +obo:GARD_19911 Syndromic craniosynostosis skos:exactMatch Orphanet:139393 semapv:UnspecifiedMatching +obo:GARD_19912 Congenital panfollicular nevus skos:exactMatch Orphanet:139414 semapv:UnspecifiedMatching +obo:GARD_19913 Acute transverse myelitis skos:exactMatch Orphanet:139417 semapv:UnspecifiedMatching +obo:GARD_19914 Idiopathic acute transverse myelitis skos:exactMatch Orphanet:139423 semapv:UnspecifiedMatching +obo:GARD_19915 Perioral myoclonia with absences skos:exactMatch Orphanet:139426 semapv:UnspecifiedMatching +obo:GARD_19916 Jeavons syndrome skos:exactMatch Orphanet:139431 semapv:UnspecifiedMatching +obo:GARD_19917 Leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch Orphanet:139444 semapv:UnspecifiedMatching +obo:GARD_19918 Progressive cavitating leukoencephalopathy skos:exactMatch Orphanet:139447 semapv:UnspecifiedMatching +obo:GARD_19919 Neuropathy with hearing impairment skos:exactMatch Orphanet:139512 semapv:UnspecifiedMatching +obo:GARD_19920 Hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch Orphanet:139573 semapv:UnspecifiedMatching +obo:GARD_19921 Inherited cancer-predisposing syndrome skos:exactMatch Orphanet:140162 semapv:UnspecifiedMatching +obo:GARD_19922 Secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch Orphanet:140286 semapv:UnspecifiedMatching +obo:GARD_19923 Autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 semapv:UnspecifiedMatching +obo:GARD_19924 Autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 semapv:UnspecifiedMatching +obo:GARD_19925 Autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 semapv:UnspecifiedMatching +obo:GARD_19926 Autosomal dominant distal hereditary motor neuropathy skos:exactMatch Orphanet:140465 semapv:UnspecifiedMatching +obo:GARD_19927 Autosomal recessive distal hereditary motor neuropathy skos:exactMatch Orphanet:140468 semapv:UnspecifiedMatching +obo:GARD_19928 Autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 semapv:UnspecifiedMatching +obo:GARD_19929 Autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 semapv:UnspecifiedMatching +obo:GARD_1993 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch Orphanet:2274 semapv:UnspecifiedMatching +obo:GARD_1993 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:narrowMatch OMIM:242520 semapv:UnspecifiedMatching +obo:GARD_19930 Neuro-ophthalmological disease skos:exactMatch Orphanet:140653 semapv:UnspecifiedMatching +obo:GARD_19931 Joubert syndrome and related disorders skos:exactMatch Orphanet:140874 semapv:UnspecifiedMatching +obo:GARD_19932 Linear atrophoderma of Moulin skos:exactMatch Orphanet:140933 semapv:UnspecifiedMatching +obo:GARD_19933 Low-flow priapism skos:exactMatch Orphanet:140949 semapv:UnspecifiedMatching +obo:GARD_19934 First branchial cleft anomaly skos:exactMatch Orphanet:141013 semapv:UnspecifiedMatching +obo:GARD_19935 Third branchial cleft anomaly skos:exactMatch Orphanet:141030 semapv:UnspecifiedMatching +obo:GARD_19936 Fourth branchial cleft anomaly skos:exactMatch Orphanet:141037 semapv:UnspecifiedMatching +obo:GARD_19937 Cervical dermoid cyst skos:exactMatch Orphanet:141046 semapv:UnspecifiedMatching +obo:GARD_19938 Facial dermoid cyst skos:exactMatch Orphanet:141051 semapv:UnspecifiedMatching +obo:GARD_19939 Commissural lip fistula skos:exactMatch Orphanet:141061 semapv:UnspecifiedMatching +obo:GARD_1994 Dyschondrosteosis-nephritis syndrome skos:exactMatch Orphanet:1765 semapv:UnspecifiedMatching +obo:GARD_1994 Dyschondrosteosis-nephritis syndrome skos:narrowMatch OMIM:127350 semapv:UnspecifiedMatching +obo:GARD_19940 Lower lip fistula skos:exactMatch Orphanet:141064 semapv:UnspecifiedMatching +obo:GARD_19941 Cervicofacial fibrochondroma skos:exactMatch Orphanet:141067 semapv:UnspecifiedMatching +obo:GARD_19942 Digestive duplication cyst of the tongue skos:exactMatch Orphanet:141071 semapv:UnspecifiedMatching +obo:GARD_19943 Epignathus skos:exactMatch Orphanet:141077 semapv:UnspecifiedMatching +obo:GARD_19944 Nasolacrimal duct cyst skos:exactMatch Orphanet:141083 semapv:UnspecifiedMatching +obo:GARD_19945 Polyrrhinia skos:exactMatch Orphanet:141091 semapv:UnspecifiedMatching +obo:GARD_19946 Supernumerary nostril skos:exactMatch Orphanet:141096 semapv:UnspecifiedMatching +obo:GARD_19947 Proboscis lateralis skos:exactMatch Orphanet:141099 semapv:UnspecifiedMatching +obo:GARD_19948 Nasopharyngeal teratoma skos:exactMatch Orphanet:141107 semapv:UnspecifiedMatching +obo:GARD_19949 Nasal glial heterotopia skos:exactMatch Orphanet:141112 semapv:UnspecifiedMatching +obo:GARD_19950 Nasal ganglioglioma skos:exactMatch Orphanet:141115 semapv:UnspecifiedMatching +obo:GARD_19951 Nasal encephalocele skos:exactMatch Orphanet:141118 semapv:UnspecifiedMatching +obo:GARD_19952 Congenital subglottic stenosis skos:exactMatch Orphanet:141121 semapv:UnspecifiedMatching +obo:GARD_19953 Congenital laryngeal cyst skos:exactMatch Orphanet:141124 semapv:UnspecifiedMatching +obo:GARD_19954 Glossopalatine ankylosis skos:exactMatch Orphanet:141163 semapv:UnspecifiedMatching +obo:GARD_19955 Frontonasal arteriovenous malformation skos:exactMatch Orphanet:141168 semapv:UnspecifiedMatching +obo:GARD_19956 Maxillary arteriovenous malformation skos:exactMatch Orphanet:141171 semapv:UnspecifiedMatching +obo:GARD_19957 Mandibular arteriovenous malformation skos:exactMatch Orphanet:141174 semapv:UnspecifiedMatching +obo:GARD_19958 Rapidly involuting congenital hemangioma skos:exactMatch Orphanet:141184 semapv:UnspecifiedMatching +obo:GARD_19959 Cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch Orphanet:141194 semapv:UnspecifiedMatching +obo:GARD_1996 Dyschromatosis universalis hereditaria skos:exactMatch Orphanet:241 semapv:UnspecifiedMatching +obo:GARD_1996 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:127500 semapv:UnspecifiedMatching +obo:GARD_1996 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:612715 semapv:UnspecifiedMatching +obo:GARD_1996 Dyschromatosis universalis hereditaria skos:narrowMatch OMIM:615402 semapv:UnspecifiedMatching +obo:GARD_19960 Cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch Orphanet:141199 semapv:UnspecifiedMatching +obo:GARD_19961 Diffuse lymphatic malformation skos:exactMatch Orphanet:141209 semapv:UnspecifiedMatching +obo:GARD_19962 Isolated congenital syngnathia skos:exactMatch Orphanet:141214 semapv:UnspecifiedMatching +obo:GARD_19963 Nasal dorsum fistula skos:exactMatch Orphanet:141219 semapv:UnspecifiedMatching +obo:GARD_19964 Facial cleft skos:exactMatch Orphanet:141229 semapv:UnspecifiedMatching +obo:GARD_19965 Median facial cleft skos:exactMatch Orphanet:141234 semapv:UnspecifiedMatching +obo:GARD_19966 Median cleft of the upper lip and maxilla skos:exactMatch Orphanet:141239 semapv:UnspecifiedMatching +obo:GARD_19967 Oblique facial cleft skos:exactMatch Orphanet:141253 semapv:UnspecifiedMatching +obo:GARD_19968 Tessier number 5 facial cleft skos:exactMatch Orphanet:141261 semapv:UnspecifiedMatching +obo:GARD_19969 Tessier number 6 facial cleft skos:exactMatch Orphanet:141265 semapv:UnspecifiedMatching +obo:GARD_19970 Lateral facial cleft skos:exactMatch Orphanet:141269 semapv:UnspecifiedMatching +obo:GARD_19971 Midline cervical cleft skos:exactMatch Orphanet:141288 semapv:UnspecifiedMatching +obo:GARD_19972 Rare head and neck malformation skos:exactMatch Orphanet:155832 semapv:UnspecifiedMatching +obo:GARD_19973 Cysts and fistulae of the face and oral cavity skos:exactMatch Orphanet:155835 semapv:UnspecifiedMatching +obo:GARD_19974 Pinnae fistula or cyst skos:exactMatch Orphanet:155838 semapv:UnspecifiedMatching +obo:GARD_19975 Paramedian facial cleft skos:exactMatch Orphanet:155867 semapv:UnspecifiedMatching +obo:GARD_19976 Submucosal cleft palate skos:exactMatch Orphanet:155878 semapv:UnspecifiedMatching +obo:GARD_19977 Coloboma of superior eyelid skos:exactMatch Orphanet:155884 semapv:UnspecifiedMatching +obo:GARD_19978 Coloboma of inferior eyelid skos:exactMatch Orphanet:155889 semapv:UnspecifiedMatching +obo:GARD_19979 Otomandibular dysplasia skos:exactMatch Orphanet:155896 semapv:UnspecifiedMatching +obo:GARD_1998 Dysequilibrium syndrome skos:exactMatch Orphanet:1766 semapv:UnspecifiedMatching +obo:GARD_1998 Dysequilibrium syndrome skos:narrowMatch OMIM:224050 semapv:UnspecifiedMatching +obo:GARD_1998 Dysequilibrium syndrome skos:narrowMatch OMIM:610185 semapv:UnspecifiedMatching +obo:GARD_1998 Dysequilibrium syndrome skos:narrowMatch OMIM:613227 semapv:UnspecifiedMatching +obo:GARD_1998 Dysequilibrium syndrome skos:narrowMatch OMIM:615268 semapv:UnspecifiedMatching +obo:GARD_19980 Mandibulofacial dysostosis skos:exactMatch Orphanet:155899 semapv:UnspecifiedMatching +obo:GARD_19981 Predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 semapv:UnspecifiedMatching +obo:GARD_19982 Predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 semapv:UnspecifiedMatching +obo:GARD_19983 Predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 semapv:UnspecifiedMatching +obo:GARD_19984 Immune complex mediated vasculitis skos:exactMatch Orphanet:156149 semapv:UnspecifiedMatching +obo:GARD_19985 Isolated dystonia skos:exactMatch Orphanet:156159 semapv:UnspecifiedMatching +obo:GARD_19986 Renal ciliopathy skos:exactMatch Orphanet:156162 semapv:UnspecifiedMatching +obo:GARD_19987 Retinal ciliopathy skos:exactMatch Orphanet:156165 semapv:UnspecifiedMatching +obo:GARD_19988 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 semapv:UnspecifiedMatching +obo:GARD_19989 Retinal ciliopathy due to mutation in the RPGR gene skos:exactMatch Orphanet:156171 semapv:UnspecifiedMatching +obo:GARD_1999 Congenital dyserythropoietic anemia skos:exactMatch Orphanet:85 semapv:UnspecifiedMatching +obo:GARD_19990 Retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 semapv:UnspecifiedMatching +obo:GARD_19991 Retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 semapv:UnspecifiedMatching +obo:GARD_19992 Retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 semapv:UnspecifiedMatching +obo:GARD_19993 Retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 semapv:UnspecifiedMatching +obo:GARD_19994 Otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 semapv:UnspecifiedMatching +obo:GARD_19995 Hypoglossia/aglossia skos:exactMatch Orphanet:156212 semapv:UnspecifiedMatching +obo:GARD_19996 Oromandibular-limb anomalies syndrome skos:exactMatch Orphanet:156215 semapv:UnspecifiedMatching +obo:GARD_19997 Paralytic facial malformation skos:exactMatch Orphanet:156224 semapv:UnspecifiedMatching +obo:GARD_19998 Syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 semapv:UnspecifiedMatching +obo:GARD_19999 Pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 semapv:UnspecifiedMatching +obo:GARD_200 Central serous chorioretinopathy skos:exactMatch Orphanet:443079 semapv:UnspecifiedMatching +obo:GARD_2000 Congenital dyserythropoietic anemia type I skos:exactMatch Orphanet:98869 semapv:UnspecifiedMatching +obo:GARD_2000 Congenital dyserythropoietic anemia type I skos:narrowMatch OMIM:224120 semapv:UnspecifiedMatching +obo:GARD_2000 Congenital dyserythropoietic anemia type I skos:narrowMatch OMIM:615631 semapv:UnspecifiedMatching +obo:GARD_20000 Nose and cavum anomaly skos:exactMatch Orphanet:156246 semapv:UnspecifiedMatching +obo:GARD_20001 Larynx anomaly skos:exactMatch Orphanet:156249 semapv:UnspecifiedMatching +obo:GARD_20002 Tracheal anomaly skos:exactMatch Orphanet:156252 semapv:UnspecifiedMatching +obo:GARD_20003 Rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 semapv:UnspecifiedMatching +obo:GARD_20004 Rare genetic hepatic disease skos:exactMatch Orphanet:156601 semapv:UnspecifiedMatching +obo:GARD_20005 Genetic parenchymatous liver disease skos:exactMatch Orphanet:156604 semapv:UnspecifiedMatching +obo:GARD_20006 Genetic biliary tract disease skos:exactMatch Orphanet:156607 semapv:UnspecifiedMatching +obo:GARD_20007 Rare genetic respiratory disease skos:exactMatch Orphanet:156610 semapv:UnspecifiedMatching +obo:GARD_20008 Rare genetic urogenital disease skos:exactMatch Orphanet:156619 semapv:UnspecifiedMatching +obo:GARD_20009 Genetic urogenital tract malformation skos:exactMatch Orphanet:156622 semapv:UnspecifiedMatching +obo:GARD_2001 Congenital dyserythropoietic anemia type II skos:exactMatch Orphanet:98873 semapv:UnspecifiedMatching +obo:GARD_2001 Congenital dyserythropoietic anemia type II skos:narrowMatch OMIM:224100 semapv:UnspecifiedMatching +obo:GARD_20010 Rare genetic cause of hypertension skos:exactMatch Orphanet:156629 semapv:UnspecifiedMatching +obo:GARD_20011 Rare genetic endocrine disease skos:exactMatch Orphanet:156638 semapv:UnspecifiedMatching +obo:GARD_20012 Genetic endocrine growth disease skos:exactMatch Orphanet:156643 semapv:UnspecifiedMatching +obo:GARD_20013 Situs ambiguus skos:exactMatch Orphanet:157769 semapv:UnspecifiedMatching +obo:GARD_20014 Epithelioid hemangioendothelioma skos:exactMatch Orphanet:157791 semapv:UnspecifiedMatching +obo:GARD_20015 Congenital pseudoarthrosis of the limbs skos:exactMatch Orphanet:157808 semapv:UnspecifiedMatching +obo:GARD_20016 Congenital epulis skos:exactMatch Orphanet:157826 semapv:UnspecifiedMatching +obo:GARD_20017 Trigeminal autonomic cephalalgia skos:exactMatch Orphanet:157843 semapv:UnspecifiedMatching +obo:GARD_20018 Generalized eruptive histiocytosis skos:exactMatch Orphanet:157991 semapv:UnspecifiedMatching +obo:GARD_20019 Benign cephalic histiocytosis skos:exactMatch Orphanet:157997 semapv:UnspecifiedMatching +obo:GARD_2002 Congenital dyserythropoietic anemia type III skos:exactMatch Orphanet:98870 semapv:UnspecifiedMatching +obo:GARD_2002 Congenital dyserythropoietic anemia type III skos:narrowMatch OMIM:105600 semapv:UnspecifiedMatching +obo:GARD_20020 Juvenile xanthogranuloma skos:exactMatch Orphanet:158000 semapv:UnspecifiedMatching +obo:GARD_20021 Papular xanthoma skos:exactMatch Orphanet:158008 semapv:UnspecifiedMatching +obo:GARD_20022 Indeterminate cell histiocytosis skos:exactMatch Orphanet:158019 semapv:UnspecifiedMatching +obo:GARD_20023 Progressive nodular histiocytosis skos:exactMatch Orphanet:158022 semapv:UnspecifiedMatching +obo:GARD_20024 Hemophagocytic syndrome skos:exactMatch Orphanet:158032 semapv:UnspecifiedMatching +obo:GARD_20025 Primary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 semapv:UnspecifiedMatching +obo:GARD_20026 Secondary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158041 semapv:UnspecifiedMatching +obo:GARD_20027 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:exactMatch Orphanet:158057 semapv:UnspecifiedMatching +obo:GARD_20028 Genetic dementia skos:exactMatch Orphanet:158124 semapv:UnspecifiedMatching +obo:GARD_20029 Huntington disease-like syndrome skos:exactMatch Orphanet:158266 semapv:UnspecifiedMatching +obo:GARD_2003 Qualitative or quantitative defects of dysferlin skos:exactMatch Orphanet:207073 semapv:UnspecifiedMatching +obo:GARD_20030 Rare genetic hematologic disease skos:exactMatch Orphanet:158300 semapv:UnspecifiedMatching +obo:GARD_20031 Localized dystrophic epidermolysis bullosa, acral form skos:exactMatch Orphanet:158673 semapv:UnspecifiedMatching +obo:GARD_20032 Localized dystrophic epidermolysis bullosa, nails only skos:exactMatch Orphanet:158676 semapv:UnspecifiedMatching +obo:GARD_20033 Typical urticaria pigmentosa skos:exactMatch Orphanet:158766 semapv:UnspecifiedMatching +obo:GARD_20034 Plaque-form urticaria pigmentosa skos:exactMatch Orphanet:158769 semapv:UnspecifiedMatching +obo:GARD_20035 Nodular urticaria pigmentosa skos:exactMatch Orphanet:158772 semapv:UnspecifiedMatching +obo:GARD_20036 Smoldering systemic mastocytosis skos:exactMatch Orphanet:158775 semapv:UnspecifiedMatching +obo:GARD_20037 Isolated bone marrow mastocytosis skos:exactMatch Orphanet:158778 semapv:UnspecifiedMatching +obo:GARD_20038 Cap polyposis skos:exactMatch Orphanet:160148 semapv:UnspecifiedMatching +obo:GARD_20039 Isolated congenital nasal pyriform aperture stenosis skos:exactMatch Orphanet:162516 semapv:UnspecifiedMatching +obo:GARD_2004 Familial dysfibrinogenemia skos:exactMatch Orphanet:98881 semapv:UnspecifiedMatching +obo:GARD_2004 Familial dysfibrinogenemia skos:narrowMatch OMIM:616004 semapv:UnspecifiedMatching +obo:GARD_20040 Isolated congenital auditory ossicle malformation skos:exactMatch Orphanet:162526 semapv:UnspecifiedMatching +obo:GARD_20041 Non-syndromic cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 semapv:UnspecifiedMatching +obo:GARD_20042 Subacute cutaneous lupus erythematosus skos:exactMatch Orphanet:163525 semapv:UnspecifiedMatching +obo:GARD_20043 Chronic cutaneous lupus erythematosus skos:exactMatch Orphanet:163531 semapv:UnspecifiedMatching +obo:GARD_20044 Rare bacterial infectious disease skos:exactMatch Orphanet:163582 semapv:UnspecifiedMatching +obo:GARD_20045 Rare viral disease skos:exactMatch Orphanet:163585 semapv:UnspecifiedMatching +obo:GARD_20046 Rare parasitic disease skos:exactMatch Orphanet:163588 semapv:UnspecifiedMatching +obo:GARD_20047 Rare mycosis skos:exactMatch Orphanet:163591 semapv:UnspecifiedMatching +obo:GARD_20048 Bile acid synthesis defect with cholestasis and malabsorption skos:exactMatch Orphanet:163631 semapv:UnspecifiedMatching +obo:GARD_20049 Rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 semapv:UnspecifiedMatching +obo:GARD_2005 Extragonadal germinoma skos:exactMatch Orphanet:182127 semapv:UnspecifiedMatching +obo:GARD_20050 Cryptogenic late-onset epileptic spasms skos:exactMatch Orphanet:163708 semapv:UnspecifiedMatching +obo:GARD_20051 Posttransplant acute limbic encephalitis skos:exactMatch Orphanet:163921 semapv:UnspecifiedMatching +obo:GARD_20052 Acrodermatitis continua of Hallopeau skos:exactMatch Orphanet:163931 semapv:UnspecifiedMatching +obo:GARD_20053 Atopic keratoconjunctivitis skos:exactMatch Orphanet:163934 semapv:UnspecifiedMatching +obo:GARD_20054 X-linked intellectual disability, Cilliers type skos:exactMatch Orphanet:163971 semapv:UnspecifiedMatching +obo:GARD_20055 Rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 semapv:UnspecifiedMatching +obo:GARD_20056 Middle ear anomaly skos:exactMatch Orphanet:164004 semapv:UnspecifiedMatching +obo:GARD_20057 Acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:exactMatch Orphanet:164726 semapv:UnspecifiedMatching +obo:GARD_20058 Rare acquired aplastic anemia skos:exactMatch Orphanet:164823 semapv:UnspecifiedMatching +obo:GARD_20059 Rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 semapv:UnspecifiedMatching +obo:GARD_20060 Genetic intestinal disease skos:exactMatch Orphanet:165655 semapv:UnspecifiedMatching +obo:GARD_20061 Genetic gastro-esophageal disease skos:exactMatch Orphanet:165658 semapv:UnspecifiedMatching +obo:GARD_20062 Genetic pancreatic disease skos:exactMatch Orphanet:165661 semapv:UnspecifiedMatching +obo:GARD_20063 Non-syndromic urogenital tract malformation skos:exactMatch Orphanet:165704 semapv:UnspecifiedMatching +obo:GARD_20064 Syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 semapv:UnspecifiedMatching +obo:GARD_20065 Wound myiasis skos:exactMatch Orphanet:165955 semapv:UnspecifiedMatching +obo:GARD_20066 Cavitary myiasis skos:exactMatch Orphanet:165958 semapv:UnspecifiedMatching +obo:GARD_20067 Diazoxide-sensitive diffuse hyperinsulinism skos:exactMatch Orphanet:165985 semapv:UnspecifiedMatching +obo:GARD_20068 Diazoxide-resistant diffuse hyperinsulinism skos:exactMatch Orphanet:165988 semapv:UnspecifiedMatching +obo:GARD_20069 Bazex syndrome skos:exactMatch Orphanet:166113 semapv:UnspecifiedMatching +obo:GARD_2007 Dyskeratosis congenita, x-linked skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_2007 Dyskeratosis congenita, x-linked skos:exactMatch OMIM:305000 semapv:UnspecifiedMatching +obo:GARD_20070 Porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch Orphanet:166286 semapv:UnspecifiedMatching +obo:GARD_20071 Benign non-familial infantile seizures skos:exactMatch Orphanet:166295 semapv:UnspecifiedMatching +obo:GARD_20072 Benign partial epilepsy of infancy with complex partial seizures skos:exactMatch Orphanet:166299 semapv:UnspecifiedMatching +obo:GARD_20073 Benign partial epilepsy with secondarily generalized seizures in infancy skos:exactMatch Orphanet:166302 semapv:UnspecifiedMatching +obo:GARD_20074 Benign infantile seizures associated with mild gastroenteritis skos:exactMatch Orphanet:166305 semapv:UnspecifiedMatching +obo:GARD_20075 Benign infantile focal epilepsy with midline spikes and waves during sleep skos:exactMatch Orphanet:166308 semapv:UnspecifiedMatching +obo:GARD_20076 Benign partial infantile seizures skos:exactMatch Orphanet:166311 semapv:UnspecifiedMatching +obo:GARD_20077 Audiogenic seizures skos:exactMatch Orphanet:166415 semapv:UnspecifiedMatching +obo:GARD_20078 Eating reflex epilepsy skos:exactMatch Orphanet:166418 semapv:UnspecifiedMatching +obo:GARD_20079 Orgasm-induced seizures skos:exactMatch Orphanet:166421 semapv:UnspecifiedMatching +obo:GARD_20080 Thinking seizures skos:exactMatch Orphanet:166424 semapv:UnspecifiedMatching +obo:GARD_20081 Startle epilepsy skos:exactMatch Orphanet:166427 semapv:UnspecifiedMatching +obo:GARD_20082 Micturation-induced seizures skos:exactMatch Orphanet:166430 semapv:UnspecifiedMatching +obo:GARD_20083 Epilepsy syndrome skos:exactMatch Orphanet:166463 semapv:UnspecifiedMatching +obo:GARD_20084 Neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 semapv:UnspecifiedMatching +obo:GARD_20085 Chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 semapv:UnspecifiedMatching +obo:GARD_20086 Monogenic disease with epilepsy skos:exactMatch Orphanet:166472 semapv:UnspecifiedMatching +obo:GARD_20087 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 semapv:UnspecifiedMatching +obo:GARD_20088 Cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 semapv:UnspecifiedMatching +obo:GARD_20089 Metabolic diseases with epilepsy skos:exactMatch Orphanet:166481 semapv:UnspecifiedMatching +obo:GARD_2009 Dysmorphism-cleft palate-loose skin syndrome skos:exactMatch Orphanet:1779 semapv:UnspecifiedMatching +obo:GARD_20090 Inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 semapv:UnspecifiedMatching +obo:GARD_20091 Cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 semapv:UnspecifiedMatching +obo:GARD_20092 Infectious disease with epilepsy skos:exactMatch Orphanet:166490 semapv:UnspecifiedMatching +obo:GARD_20093 Rare hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 semapv:UnspecifiedMatching +obo:GARD_20094 Hereditary dentin defect skos:exactMatch Orphanet:167759 semapv:UnspecifiedMatching +obo:GARD_20095 Rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 semapv:UnspecifiedMatching +obo:GARD_20096 Rare cardiomyopathy skos:exactMatch Orphanet:167848 semapv:UnspecifiedMatching +obo:GARD_20097 Rare cardiac tumor skos:exactMatch Orphanet:168194 semapv:UnspecifiedMatching +obo:GARD_20098 Dysplasia of head of femur, Meyer type skos:exactMatch Orphanet:168621 semapv:UnspecifiedMatching +obo:GARD_20099 Rare pervasive developmental disorder skos:exactMatch Orphanet:168778 semapv:UnspecifiedMatching +obo:GARD_201 Ascher syndrome skos:exactMatch Orphanet:1253 semapv:UnspecifiedMatching +obo:GARD_201 Ascher syndrome skos:narrowMatch OMIM:109900 semapv:UnspecifiedMatching +obo:GARD_20100 Primary peritoneal tumor skos:exactMatch Orphanet:168803 semapv:UnspecifiedMatching +obo:GARD_20101 Primary malignant peritoneal tumor skos:exactMatch Orphanet:168807 semapv:UnspecifiedMatching +obo:GARD_20102 Malignant peritoneal mesothelioma skos:exactMatch Orphanet:168811 semapv:UnspecifiedMatching +obo:GARD_20103 Primary peritoneal carcinoma skos:exactMatch Orphanet:168829 semapv:UnspecifiedMatching +obo:GARD_20104 Chronic eosinophilic leukemia skos:exactMatch Orphanet:168940 semapv:UnspecifiedMatching +obo:GARD_20105 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch Orphanet:168943 semapv:UnspecifiedMatching +obo:GARD_20106 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement skos:exactMatch Orphanet:168947 semapv:UnspecifiedMatching +obo:GARD_20107 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement skos:exactMatch Orphanet:168950 semapv:UnspecifiedMatching +obo:GARD_20108 Refractory anemia with excess blasts in transformation skos:exactMatch Orphanet:168960 semapv:UnspecifiedMatching +obo:GARD_20109 Composite lymphoma skos:exactMatch Orphanet:168966 semapv:UnspecifiedMatching +obo:GARD_20110 Malignant melanoma of the mucosa skos:exactMatch Orphanet:168999 semapv:UnspecifiedMatching +obo:GARD_20111 Immunoglobulin heavy chain deficiency skos:exactMatch Orphanet:169110 semapv:UnspecifiedMatching +obo:GARD_20112 Transient hypogammaglobulinemia of infancy skos:exactMatch Orphanet:169139 semapv:UnspecifiedMatching +obo:GARD_20113 Familial scaphocephaly syndrome skos:exactMatch Orphanet:169163 semapv:UnspecifiedMatching +obo:GARD_20114 DNA repair defect other than combined T-cell and B-cell immunodeficiencies skos:exactMatch Orphanet:169346 semapv:UnspecifiedMatching +obo:GARD_20115 Immuno-osseous dysplasia skos:exactMatch Orphanet:169349 semapv:UnspecifiedMatching +obo:GARD_20116 Immunodeficiency syndrome with autoimmunity skos:exactMatch Orphanet:169355 semapv:UnspecifiedMatching +obo:GARD_20117 Immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 semapv:UnspecifiedMatching +obo:GARD_20118 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch Orphanet:169443 semapv:UnspecifiedMatching +obo:GARD_20119 Idiopathic central precocious puberty skos:exactMatch Orphanet:169615 semapv:UnspecifiedMatching +obo:GARD_2012 Dysosteosclerosis skos:exactMatch Orphanet:1782 semapv:UnspecifiedMatching +obo:GARD_2012 Dysosteosclerosis skos:narrowMatch OMIM:224300 semapv:UnspecifiedMatching +obo:GARD_20120 Secondary central precocious puberty skos:exactMatch Orphanet:169618 semapv:UnspecifiedMatching +obo:GARD_20121 Congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch Orphanet:169826 semapv:UnspecifiedMatching +obo:GARD_20122 Rectal duplication skos:exactMatch Orphanet:171220 semapv:UnspecifiedMatching +obo:GARD_20123 Limbal stem cell deficiency skos:exactMatch Orphanet:171673 semapv:UnspecifiedMatching +obo:GARD_20124 Idiopathic bilateral vestibulopathy skos:exactMatch Orphanet:171684 semapv:UnspecifiedMatching +obo:GARD_20125 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:exactMatch Orphanet:171703 semapv:UnspecifiedMatching +obo:GARD_20126 6q16 microdeletion syndrome skos:exactMatch Orphanet:171829 semapv:UnspecifiedMatching +obo:GARD_20127 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch Orphanet:171839 semapv:UnspecifiedMatching +obo:GARD_20128 Intellectual disability-cataracts-kyphosis syndrome skos:exactMatch Orphanet:171860 semapv:UnspecifiedMatching +obo:GARD_20129 Myopathy with hexagonally cross-linked tubular arrays skos:exactMatch Orphanet:171889 semapv:UnspecifiedMatching +obo:GARD_2013 Robinow syndrome, autosomal dominant 1 skos:broadMatch Orphanet:3107 semapv:UnspecifiedMatching +obo:GARD_2013 Robinow syndrome, autosomal dominant 1 skos:exactMatch OMIM:180700 semapv:UnspecifiedMatching +obo:GARD_20130 Myeloid hemopathy skos:exactMatch Orphanet:171895 semapv:UnspecifiedMatching +obo:GARD_20131 Lymphoid hemopathy skos:exactMatch Orphanet:171898 semapv:UnspecifiedMatching +obo:GARD_20132 B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171915 semapv:UnspecifiedMatching +obo:GARD_20133 T-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171918 semapv:UnspecifiedMatching +obo:GARD_20134 Congenital myopathy with cores skos:exactMatch Orphanet:172976 semapv:UnspecifiedMatching +obo:GARD_20135 Congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:174590 semapv:UnspecifiedMatching +obo:GARD_20136 Rare adult hypothyroidism skos:exactMatch Orphanet:177101 semapv:UnspecifiedMatching +obo:GARD_20137 Syndromic hypothyroidism skos:exactMatch Orphanet:177107 semapv:UnspecifiedMatching +obo:GARD_20138 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:exactMatch Orphanet:177901 semapv:UnspecifiedMatching +obo:GARD_20139 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:exactMatch Orphanet:177904 semapv:UnspecifiedMatching +obo:GARD_20140 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations skos:exactMatch Orphanet:178025 semapv:UnspecifiedMatching +obo:GARD_20141 Rare peripheral precocious puberty skos:exactMatch Orphanet:178040 semapv:UnspecifiedMatching +obo:GARD_20142 Transient congenital hypothyroidism skos:exactMatch Orphanet:178045 semapv:UnspecifiedMatching +obo:GARD_20143 Antenatal multiminicore disease with arthrogryposis multiplex congenita skos:exactMatch Orphanet:178148 semapv:UnspecifiedMatching +obo:GARD_20144 Isolated sternocostoclavicular hyperostosis skos:exactMatch Orphanet:178311 semapv:UnspecifiedMatching +obo:GARD_20145 Undifferentiated embryonal sarcoma of the liver skos:exactMatch Orphanet:178315 semapv:UnspecifiedMatching +obo:GARD_20146 Acute lung injury skos:exactMatch Orphanet:178320 semapv:UnspecifiedMatching +obo:GARD_20147 Osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch Orphanet:178377 semapv:UnspecifiedMatching +obo:GARD_20148 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch Orphanet:178396 semapv:UnspecifiedMatching +obo:GARD_20149 Wound botulism skos:exactMatch Orphanet:178475 semapv:UnspecifiedMatching +obo:GARD_2015 Peripheral dysostosis skos:exactMatch Orphanet:1795 semapv:UnspecifiedMatching +obo:GARD_2015 Peripheral dysostosis skos:narrowMatch OMIM:170700 semapv:UnspecifiedMatching +obo:GARD_20150 Infant botulism skos:exactMatch Orphanet:178478 semapv:UnspecifiedMatching +obo:GARD_20151 Intestinal botulism skos:exactMatch Orphanet:178481 semapv:UnspecifiedMatching +obo:GARD_20152 Adult intestinal botulism skos:exactMatch Orphanet:178487 semapv:UnspecifiedMatching +obo:GARD_20153 Myopic macular degeneration skos:exactMatch Orphanet:178493 semapv:UnspecifiedMatching +obo:GARD_20154 Folliculotropic mycosis fungoides skos:exactMatch Orphanet:178512 semapv:UnspecifiedMatching +obo:GARD_20155 Localized pagetoid reticulosis skos:exactMatch Orphanet:178517 semapv:UnspecifiedMatching +obo:GARD_20156 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:exactMatch Orphanet:178522 semapv:UnspecifiedMatching +obo:GARD_20157 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch Orphanet:178528 semapv:UnspecifiedMatching +obo:GARD_20158 Primary cutaneous gamma/delta-positive T-cell lymphoma skos:exactMatch Orphanet:178533 semapv:UnspecifiedMatching +obo:GARD_20159 Primary cutaneous marginal zone B-cell lymphoma skos:exactMatch Orphanet:178536 semapv:UnspecifiedMatching +obo:GARD_2016 Dysostosis, Stanescu type skos:exactMatch Orphanet:1798 semapv:UnspecifiedMatching +obo:GARD_2016 Dysostosis, Stanescu type skos:narrowMatch OMIM:122900 semapv:UnspecifiedMatching +obo:GARD_20160 Primary cutaneous diffuse large B-cell lymphoma, leg type skos:exactMatch Orphanet:178544 semapv:UnspecifiedMatching +obo:GARD_20161 Indolent primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178548 semapv:UnspecifiedMatching +obo:GARD_20162 Aggressive primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178551 semapv:UnspecifiedMatching +obo:GARD_20163 Aggressive primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178554 semapv:UnspecifiedMatching +obo:GARD_20164 Indolent primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178557 semapv:UnspecifiedMatching +obo:GARD_20165 Primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178563 semapv:UnspecifiedMatching +obo:GARD_20166 Mycosis fungoides and variants skos:exactMatch Orphanet:178566 semapv:UnspecifiedMatching +obo:GARD_20167 Acquired neutropenia skos:exactMatch Orphanet:178996 semapv:UnspecifiedMatching +obo:GARD_20168 Primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 semapv:UnspecifiedMatching +obo:GARD_20169 Obesity due to congenital leptin resistance skos:exactMatch Orphanet:179490 semapv:UnspecifiedMatching +obo:GARD_20170 Uterovaginal malformation skos:exactMatch Orphanet:180062 semapv:UnspecifiedMatching +obo:GARD_20171 Non-syndromic uterovaginal malformation skos:exactMatch Orphanet:180065 semapv:UnspecifiedMatching +obo:GARD_20172 Partial bilateral aplasia of the Müllerian ducts skos:exactMatch Orphanet:180068 semapv:UnspecifiedMatching +obo:GARD_20173 Unilateral aplasia of the Müllerian ducts skos:exactMatch Orphanet:180071 semapv:UnspecifiedMatching +obo:GARD_20174 True unicornuate uterus skos:exactMatch Orphanet:180074 semapv:UnspecifiedMatching +obo:GARD_20175 Pseudounicornuate uterus skos:exactMatch Orphanet:180079 semapv:UnspecifiedMatching +obo:GARD_20176 Didelphys uterus skos:exactMatch Orphanet:180086 semapv:UnspecifiedMatching +obo:GARD_20177 Bicervical bicornuate uterus and blind hemivagina skos:exactMatch Orphanet:180106 semapv:UnspecifiedMatching +obo:GARD_20178 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch Orphanet:180111 semapv:UnspecifiedMatching +obo:GARD_20179 Unicervical bicornuate uterus skos:exactMatch Orphanet:180114 semapv:UnspecifiedMatching +obo:GARD_20180 Septate uterus skos:exactMatch Orphanet:180122 semapv:UnspecifiedMatching +obo:GARD_20181 Complete septate uterus skos:exactMatch Orphanet:180126 semapv:UnspecifiedMatching +obo:GARD_20182 Partial septate uterus skos:exactMatch Orphanet:180129 semapv:UnspecifiedMatching +obo:GARD_20183 Bicornuate uterus skos:exactMatch Orphanet:180134 semapv:UnspecifiedMatching +obo:GARD_20184 Uterine hypoplasia skos:exactMatch Orphanet:180139 semapv:UnspecifiedMatching +obo:GARD_20185 Absence of uterine body skos:exactMatch Orphanet:180142 semapv:UnspecifiedMatching +obo:GARD_20186 Uterine cervical aplasia and agenesis skos:exactMatch Orphanet:180145 semapv:UnspecifiedMatching +obo:GARD_20187 Syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 semapv:UnspecifiedMatching +obo:GARD_20188 Rare vaginal malformation skos:exactMatch Orphanet:180151 semapv:UnspecifiedMatching +obo:GARD_20189 Septate vagina skos:exactMatch Orphanet:180154 semapv:UnspecifiedMatching +obo:GARD_2019 Dysplasia epiphysealis hemimelica skos:exactMatch Orphanet:1822 semapv:UnspecifiedMatching +obo:GARD_2019 Dysplasia epiphysealis hemimelica skos:narrowMatch OMIM:127800 semapv:UnspecifiedMatching +obo:GARD_20190 Longitudinal vaginal septum skos:exactMatch Orphanet:180157 semapv:UnspecifiedMatching +obo:GARD_20191 Transverse vaginal septum skos:exactMatch Orphanet:180160 semapv:UnspecifiedMatching +obo:GARD_20192 Rare breast malformation skos:exactMatch Orphanet:180163 semapv:UnspecifiedMatching +obo:GARD_20193 Excess breast volume or number skos:exactMatch Orphanet:180170 semapv:UnspecifiedMatching +obo:GARD_20194 Deficient breast volume or number skos:exactMatch Orphanet:180173 semapv:UnspecifiedMatching +obo:GARD_20195 Supernumerary breasts skos:exactMatch Orphanet:180182 semapv:UnspecifiedMatching +obo:GARD_20196 Syndromic breast hypoplasia/aplasia skos:exactMatch Orphanet:180193 semapv:UnspecifiedMatching +obo:GARD_20197 Rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 semapv:UnspecifiedMatching +obo:GARD_20198 Rare non-malformative breast disease skos:exactMatch Orphanet:180202 semapv:UnspecifiedMatching +obo:GARD_20199 Rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 semapv:UnspecifiedMatching +obo:GARD_20200 Anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 semapv:UnspecifiedMatching +obo:GARD_20201 Rare uterine adnexal tumor skos:exactMatch Orphanet:180220 semapv:UnspecifiedMatching +obo:GARD_20202 Mixed germ cell tumor skos:exactMatch Orphanet:180234 semapv:UnspecifiedMatching +obo:GARD_20203 Benign tumor of fallopian tubes skos:exactMatch Orphanet:180237 semapv:UnspecifiedMatching +obo:GARD_20204 Malignant tumor of fallopian tubes skos:exactMatch Orphanet:180242 semapv:UnspecifiedMatching +obo:GARD_20205 Rare breast tumor skos:exactMatch Orphanet:180250 semapv:UnspecifiedMatching +obo:GARD_20206 Giant adenofibroma of the breast skos:exactMatch Orphanet:180267 semapv:UnspecifiedMatching +obo:GARD_20207 Rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 semapv:UnspecifiedMatching +obo:GARD_20208 Rare vulvovaginal tumor skos:exactMatch Orphanet:180312 semapv:UnspecifiedMatching +obo:GARD_20209 Malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 semapv:UnspecifiedMatching +obo:GARD_20211 Non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 semapv:UnspecifiedMatching +obo:GARD_20212 Syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 semapv:UnspecifiedMatching +obo:GARD_20213 Rare gastroesophageal tumor skos:exactMatch Orphanet:180821 semapv:UnspecifiedMatching +obo:GARD_20214 Rare insulin-resistance syndrome skos:exactMatch Orphanet:181368 semapv:UnspecifiedMatching +obo:GARD_20215 Rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 semapv:UnspecifiedMatching +obo:GARD_20216 Rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 semapv:UnspecifiedMatching +obo:GARD_20217 Other rare diabetes mellitus skos:exactMatch Orphanet:181381 semapv:UnspecifiedMatching +obo:GARD_20218 Rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 semapv:UnspecifiedMatching +obo:GARD_20219 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 semapv:UnspecifiedMatching +obo:GARD_2022 Dysplastic cortical hyperostosis skos:exactMatch Orphanet:2204 semapv:UnspecifiedMatching +obo:GARD_20220 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature skos:exactMatch Orphanet:181390 semapv:UnspecifiedMatching +obo:GARD_20221 Rare hypothyroidism skos:exactMatch Orphanet:181396 semapv:UnspecifiedMatching +obo:GARD_20222 Rare hyperthyroidism skos:exactMatch Orphanet:181399 semapv:UnspecifiedMatching +obo:GARD_20223 Syndrome with hypoparathyroidism skos:exactMatch Orphanet:181402 semapv:UnspecifiedMatching +obo:GARD_20224 Rare hypoparathyroidism skos:exactMatch Orphanet:181405 semapv:UnspecifiedMatching +obo:GARD_20225 Rare hyperparathyroidism skos:exactMatch Orphanet:181408 semapv:UnspecifiedMatching +obo:GARD_20226 Adrenogenital syndrome skos:exactMatch Orphanet:181412 semapv:UnspecifiedMatching +obo:GARD_20227 Rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 semapv:UnspecifiedMatching +obo:GARD_20228 Rare hypoaldosteronism skos:exactMatch Orphanet:181419 semapv:UnspecifiedMatching +obo:GARD_20229 Rare hyperlipidemia skos:exactMatch Orphanet:181422 semapv:UnspecifiedMatching +obo:GARD_20230 Hyperalphalipoproteinemia skos:exactMatch Orphanet:181428 semapv:UnspecifiedMatching +obo:GARD_20231 Rare hypolipidemia skos:exactMatch Orphanet:181431 semapv:UnspecifiedMatching +obo:GARD_20232 Rare syndromic dyslipidemia skos:exactMatch Orphanet:181437 semapv:UnspecifiedMatching +obo:GARD_20233 Rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 semapv:UnspecifiedMatching +obo:GARD_20234 Aplastic anemia skos:exactMatch Orphanet:182040 semapv:UnspecifiedMatching +obo:GARD_20235 Rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 semapv:UnspecifiedMatching +obo:GARD_20236 Rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 semapv:UnspecifiedMatching +obo:GARD_20237 Rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 semapv:UnspecifiedMatching +obo:GARD_20238 Cerebellar malformation skos:exactMatch Orphanet:182061 semapv:UnspecifiedMatching +obo:GARD_20239 Rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 semapv:UnspecifiedMatching +obo:GARD_20240 Rare neurodegenerative disease skos:exactMatch Orphanet:182070 semapv:UnspecifiedMatching +obo:GARD_20241 ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 semapv:UnspecifiedMatching +obo:GARD_20242 Channelopathy with epilepsy skos:exactMatch Orphanet:182083 semapv:UnspecifiedMatching +obo:GARD_20243 Acquired peripheral neuropathy skos:exactMatch Orphanet:182086 semapv:UnspecifiedMatching +obo:GARD_20244 Interstitial lung disease skos:exactMatch Orphanet:182095 semapv:UnspecifiedMatching +obo:GARD_20245 Pneumoconiosis skos:exactMatch Orphanet:182098 semapv:UnspecifiedMatching +obo:GARD_20246 Idiopathic eosinophilic pneumonia skos:exactMatch Orphanet:182101 semapv:UnspecifiedMatching +obo:GARD_20247 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease skos:exactMatch Orphanet:182104 semapv:UnspecifiedMatching +obo:GARD_20248 Thoracic malformation skos:exactMatch Orphanet:182108 semapv:UnspecifiedMatching +obo:GARD_20249 Respiratory malformation skos:exactMatch Orphanet:182111 semapv:UnspecifiedMatching +obo:GARD_20250 Rare urogenital tumor skos:exactMatch Orphanet:182114 semapv:UnspecifiedMatching +obo:GARD_20251 Non-syndromic urogenital tract malformation of female skos:exactMatch Orphanet:182117 semapv:UnspecifiedMatching +obo:GARD_20252 Non-syndromic urogenital tract malformation of male skos:exactMatch Orphanet:182121 semapv:UnspecifiedMatching +obo:GARD_20253 Non-syndromic urogenital tract malformation of male and female skos:exactMatch Orphanet:182124 semapv:UnspecifiedMatching +obo:GARD_20254 Tumor of endocrine glands skos:exactMatch Orphanet:182130 semapv:UnspecifiedMatching +obo:GARD_20255 Rare systemic disease skos:exactMatch Orphanet:182222 semapv:UnspecifiedMatching +obo:GARD_20256 Systemic autoimmune disease skos:exactMatch Orphanet:182228 semapv:UnspecifiedMatching +obo:GARD_20257 Rare rheumatologic disease skos:exactMatch Orphanet:182231 semapv:UnspecifiedMatching +obo:GARD_20258 Genetic urticaria skos:exactMatch Orphanet:182734 semapv:UnspecifiedMatching +obo:GARD_20259 Polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 semapv:UnspecifiedMatching +obo:GARD_2026 Dyssegmental dysplasia, Silverman-Handmaker type skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching +obo:GARD_2026 Dyssegmental dysplasia, Silverman-Handmaker type skos:narrowMatch OMIM:224410 semapv:UnspecifiedMatching +obo:GARD_20260 Genetic epidermal disorder skos:exactMatch Orphanet:183426 semapv:UnspecifiedMatching +obo:GARD_20261 Inherited ichthyosis skos:exactMatch Orphanet:183435 semapv:UnspecifiedMatching +obo:GARD_20262 Genetic erythrokeratoderma skos:exactMatch Orphanet:183438 semapv:UnspecifiedMatching +obo:GARD_20263 Genetic acrokeratoderma skos:exactMatch Orphanet:183441 semapv:UnspecifiedMatching +obo:GARD_20264 Genetic porokeratosis skos:exactMatch Orphanet:183444 semapv:UnspecifiedMatching +obo:GARD_20265 Genetic epidermal appendage anomaly skos:exactMatch Orphanet:183447 semapv:UnspecifiedMatching +obo:GARD_20266 Genetic hair anomaly skos:exactMatch Orphanet:183450 semapv:UnspecifiedMatching +obo:GARD_20267 Genetic nail anomaly skos:exactMatch Orphanet:183454 semapv:UnspecifiedMatching +obo:GARD_20268 Genetic sebaceous gland anomaly skos:exactMatch Orphanet:183460 semapv:UnspecifiedMatching +obo:GARD_20269 Genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 semapv:UnspecifiedMatching +obo:GARD_2027 Early-onset generalized limb-onset dystonia skos:exactMatch Orphanet:256 semapv:UnspecifiedMatching +obo:GARD_2027 Early-onset generalized limb-onset dystonia skos:narrowMatch OMIM:128100 semapv:UnspecifiedMatching +obo:GARD_2027 Early-onset generalized limb-onset dystonia skos:narrowMatch OMIM:602554 semapv:UnspecifiedMatching +obo:GARD_20270 Genetic hyperpigmentation of the skin skos:exactMatch Orphanet:183466 semapv:UnspecifiedMatching +obo:GARD_20271 Genetic hypopigmentation of the skin skos:exactMatch Orphanet:183469 semapv:UnspecifiedMatching +obo:GARD_20272 Genetic dermis disorder skos:exactMatch Orphanet:183472 semapv:UnspecifiedMatching +obo:GARD_20273 Genetic skin vascular disorder skos:exactMatch Orphanet:183478 semapv:UnspecifiedMatching +obo:GARD_20274 Genetic mixed dermis disorder skos:exactMatch Orphanet:183481 semapv:UnspecifiedMatching +obo:GARD_20275 Genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 semapv:UnspecifiedMatching +obo:GARD_20276 Genetic skin tumor or hamartoma skos:exactMatch Orphanet:183487 semapv:UnspecifiedMatching +obo:GARD_20277 Genetic photodermatosis skos:exactMatch Orphanet:183490 semapv:UnspecifiedMatching +obo:GARD_20278 Genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 semapv:UnspecifiedMatching +obo:GARD_20279 Genetic neuromuscular disease skos:exactMatch Orphanet:183497 semapv:UnspecifiedMatching +obo:GARD_2028 Primary dystonia, DYT2 type skos:exactMatch Orphanet:99657 semapv:UnspecifiedMatching +obo:GARD_2028 Primary dystonia, DYT2 type skos:narrowMatch OMIM:224500 semapv:UnspecifiedMatching +obo:GARD_20280 Genetic neurodegenerative disease skos:exactMatch Orphanet:183500 semapv:UnspecifiedMatching +obo:GARD_20281 Genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 semapv:UnspecifiedMatching +obo:GARD_20282 Genetic central nervous system malformation skos:exactMatch Orphanet:183506 semapv:UnspecifiedMatching +obo:GARD_20283 Rare genetic headache skos:exactMatch Orphanet:183509 semapv:UnspecifiedMatching +obo:GARD_20284 Rare genetic epilepsy skos:exactMatch Orphanet:183512 semapv:UnspecifiedMatching +obo:GARD_20285 Rare genetic medullar disease skos:exactMatch Orphanet:183515 semapv:UnspecifiedMatching +obo:GARD_20286 Rare hereditary ataxia skos:exactMatch Orphanet:183518 semapv:UnspecifiedMatching +obo:GARD_20287 Rare genetic movement disorder skos:exactMatch Orphanet:183521 semapv:UnspecifiedMatching +obo:GARD_20288 Rare genetic bone disease skos:exactMatch Orphanet:183524 semapv:UnspecifiedMatching +obo:GARD_20289 Genetic bone tumor skos:exactMatch Orphanet:183527 semapv:UnspecifiedMatching +obo:GARD_20290 Rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 semapv:UnspecifiedMatching +obo:GARD_20291 Genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 semapv:UnspecifiedMatching +obo:GARD_20292 Genetic congenital limb malformation skos:exactMatch Orphanet:183536 semapv:UnspecifiedMatching +obo:GARD_20293 Genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 semapv:UnspecifiedMatching +obo:GARD_20294 Genetic cranial malformation skos:exactMatch Orphanet:183542 semapv:UnspecifiedMatching +obo:GARD_20295 Genetic digestive tract malformation skos:exactMatch Orphanet:183545 semapv:UnspecifiedMatching +obo:GARD_20296 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 semapv:UnspecifiedMatching +obo:GARD_20297 Genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 semapv:UnspecifiedMatching +obo:GARD_20298 Genetic developmental defect of the eye skos:exactMatch Orphanet:183557 semapv:UnspecifiedMatching +obo:GARD_20299 Genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 semapv:UnspecifiedMatching +obo:GARD_20300 Genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 semapv:UnspecifiedMatching +obo:GARD_20301 Genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 semapv:UnspecifiedMatching +obo:GARD_20302 Genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 semapv:UnspecifiedMatching +obo:GARD_20303 Genetic head and neck malformation skos:exactMatch Orphanet:183583 semapv:UnspecifiedMatching +obo:GARD_20304 Genetic glomerular disease skos:exactMatch Orphanet:183586 semapv:UnspecifiedMatching +obo:GARD_20305 Genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 semapv:UnspecifiedMatching +obo:GARD_20306 Genetic renal tubular disease skos:exactMatch Orphanet:183592 semapv:UnspecifiedMatching +obo:GARD_20307 Genetic renal tumor skos:exactMatch Orphanet:183595 semapv:UnspecifiedMatching +obo:GARD_20308 Genetic lens and zonula anomaly skos:exactMatch Orphanet:183607 semapv:UnspecifiedMatching +obo:GARD_20309 Genetic neuro-ophthalmological disease skos:exactMatch Orphanet:183616 semapv:UnspecifiedMatching +obo:GARD_2031 Qualitative or quantitative defects of dystrophin skos:exactMatch Orphanet:207085 semapv:UnspecifiedMatching +obo:GARD_20310 Genetic eye tumor skos:exactMatch Orphanet:183619 semapv:UnspecifiedMatching +obo:GARD_20311 Genetic respiratory malformation skos:exactMatch Orphanet:183622 semapv:UnspecifiedMatching +obo:GARD_20312 Rare genetic diabetes mellitus skos:exactMatch Orphanet:183625 semapv:UnspecifiedMatching +obo:GARD_20313 Rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 semapv:UnspecifiedMatching +obo:GARD_20314 Rare genetic thyroid disease skos:exactMatch Orphanet:183631 semapv:UnspecifiedMatching +obo:GARD_20315 Rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 semapv:UnspecifiedMatching +obo:GARD_20316 Rare genetic adrenal disease skos:exactMatch Orphanet:183637 semapv:UnspecifiedMatching +obo:GARD_20317 Genetic polyendocrinopathy skos:exactMatch Orphanet:183643 semapv:UnspecifiedMatching +obo:GARD_20318 Rare constitutional anemia skos:exactMatch Orphanet:183651 semapv:UnspecifiedMatching +obo:GARD_20319 Rare genetic coagulation disorder skos:exactMatch Orphanet:183654 semapv:UnspecifiedMatching +obo:GARD_20320 Agammaglobulinemia skos:exactMatch Orphanet:183669 semapv:UnspecifiedMatching +obo:GARD_20321 Functional neutrophil defect skos:exactMatch Orphanet:183681 semapv:UnspecifiedMatching +obo:GARD_20322 Genetic susceptibility to infections due to particular pathogens skos:exactMatch Orphanet:183710 semapv:UnspecifiedMatching +obo:GARD_20323 Rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 semapv:UnspecifiedMatching +obo:GARD_20324 Genetic gynecological tumor skos:exactMatch Orphanet:183734 semapv:UnspecifiedMatching +obo:GARD_20325 Rare genetic intellectual disability skos:exactMatch Orphanet:183757 semapv:UnspecifiedMatching +obo:GARD_20326 Rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 semapv:UnspecifiedMatching +obo:GARD_20327 Rare genetic immune disease skos:exactMatch Orphanet:183770 semapv:UnspecifiedMatching +obo:GARD_20328 Superficial fibromatosis skos:exactMatch Orphanet:199257 semapv:UnspecifiedMatching +obo:GARD_20329 Calcifying aponeurotic fibroma skos:exactMatch Orphanet:199260 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:224690 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613800 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613803 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613804 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:613805 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:616835 semapv:UnspecifiedMatching +obo:GARD_2033 Ear-patella-short stature syndrome skos:narrowMatch OMIM:617063 semapv:UnspecifiedMatching +obo:GARD_20330 Congenital microgastria skos:exactMatch Orphanet:199293 semapv:UnspecifiedMatching +obo:GARD_20331 Late-onset isolated ACTH deficiency skos:exactMatch Orphanet:199299 semapv:UnspecifiedMatching +obo:GARD_20332 Tetragametic chimerism skos:exactMatch Orphanet:199310 semapv:UnspecifiedMatching +obo:GARD_20333 Endophthalmitis skos:exactMatch Orphanet:199323 semapv:UnspecifiedMatching +obo:GARD_20334 Isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch Orphanet:199326 semapv:UnspecifiedMatching +obo:GARD_20335 Congenital myopathy, Paradas type skos:exactMatch Orphanet:199329 semapv:UnspecifiedMatching +obo:GARD_20336 Atypical autism skos:exactMatch Orphanet:199627 semapv:UnspecifiedMatching +obo:GARD_20337 Isolated cerebellar vermis hypoplasia skos:exactMatch Orphanet:199630 semapv:UnspecifiedMatching +obo:GARD_20338 Non-syndromic cerebral malformation skos:exactMatch Orphanet:199633 semapv:UnspecifiedMatching +obo:GARD_20339 Syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:199639 semapv:UnspecifiedMatching +obo:GARD_20340 Paroxysmal dystonia skos:exactMatch Orphanet:200037 semapv:UnspecifiedMatching +obo:GARD_20341 Anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 semapv:UnspecifiedMatching +obo:GARD_20342 Syndromic microphthalmia-anophthalmia-coloboma skos:exactMatch Orphanet:202948 semapv:UnspecifiedMatching +obo:GARD_20343 Infantile Krabbe disease skos:exactMatch Orphanet:206436 semapv:UnspecifiedMatching +obo:GARD_20344 Late-infantile/juvenile Krabbe disease skos:exactMatch Orphanet:206443 semapv:UnspecifiedMatching +obo:GARD_20345 Adult Krabbe disease skos:exactMatch Orphanet:206448 semapv:UnspecifiedMatching +obo:GARD_20346 Cystadenoma of childhood skos:exactMatch Orphanet:206470 semapv:UnspecifiedMatching +obo:GARD_20347 Malignant germ cell tumor of the vagina skos:exactMatch Orphanet:206489 semapv:UnspecifiedMatching +obo:GARD_20348 Vulvovaginal rhabdomyosarcoma skos:exactMatch Orphanet:206492 semapv:UnspecifiedMatching +obo:GARD_20349 Malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:206538 semapv:UnspecifiedMatching +obo:GARD_2035 Ebola hemorrhagic fever skos:exactMatch Orphanet:319218 semapv:UnspecifiedMatching +obo:GARD_20350 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch Orphanet:206546 semapv:UnspecifiedMatching +obo:GARD_20351 Immune-mediated necrotizing myopathy skos:exactMatch Orphanet:206569 semapv:UnspecifiedMatching +obo:GARD_20352 Overlap myositis skos:exactMatch Orphanet:206572 semapv:UnspecifiedMatching +obo:GARD_20353 Rippling muscle disease with myasthenia gravis skos:exactMatch Orphanet:206575 semapv:UnspecifiedMatching +obo:GARD_20354 Neurolymphomatosis skos:exactMatch Orphanet:206586 semapv:UnspecifiedMatching +obo:GARD_20355 Subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:206594 semapv:UnspecifiedMatching +obo:GARD_20356 Isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch Orphanet:206599 semapv:UnspecifiedMatching +obo:GARD_20357 Infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 semapv:UnspecifiedMatching +obo:GARD_20358 Genetic skeletal muscle disease skos:exactMatch Orphanet:206634 semapv:UnspecifiedMatching +obo:GARD_20359 Acquired skeletal muscle disease skos:exactMatch Orphanet:206638 semapv:UnspecifiedMatching +obo:GARD_20360 Progressive muscular dystrophy skos:exactMatch Orphanet:206644 semapv:UnspecifiedMatching +obo:GARD_20361 Autosomal dominant distal myopathy skos:exactMatch Orphanet:206650 semapv:UnspecifiedMatching +obo:GARD_20362 Autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 semapv:UnspecifiedMatching +obo:GARD_20363 Non-dystrophic myopathy skos:exactMatch Orphanet:206656 semapv:UnspecifiedMatching +obo:GARD_20364 Inclusion myopathy skos:exactMatch Orphanet:206662 semapv:UnspecifiedMatching +obo:GARD_20365 Bulbospinal muscular atrophy skos:exactMatch Orphanet:206701 semapv:UnspecifiedMatching +obo:GARD_20366 Bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 semapv:UnspecifiedMatching +obo:GARD_20367 Bulbospinal muscular atrophy of adult skos:exactMatch Orphanet:206707 semapv:UnspecifiedMatching +obo:GARD_20368 Generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 semapv:UnspecifiedMatching +obo:GARD_20369 Muscular lipidosis skos:exactMatch Orphanet:206953 semapv:UnspecifiedMatching +obo:GARD_20370 Muscular glycogenosis skos:exactMatch Orphanet:206959 semapv:UnspecifiedMatching +obo:GARD_20371 Mitochondrial myopathy skos:exactMatch Orphanet:206966 semapv:UnspecifiedMatching +obo:GARD_20372 Myotonic syndrome skos:exactMatch Orphanet:206970 semapv:UnspecifiedMatching +obo:GARD_20373 Congenital myotonia skos:exactMatch Orphanet:206973 semapv:UnspecifiedMatching +obo:GARD_20374 Periodic paralysis skos:exactMatch Orphanet:206976 semapv:UnspecifiedMatching +obo:GARD_20375 Muscular tumor skos:exactMatch Orphanet:206982 semapv:UnspecifiedMatching +obo:GARD_20376 Infectious, fungal or parasitic myopathy skos:exactMatch Orphanet:206988 semapv:UnspecifiedMatching +obo:GARD_20377 Viral myositis skos:exactMatch Orphanet:206991 semapv:UnspecifiedMatching +obo:GARD_20378 Bacterial myositis skos:exactMatch Orphanet:206994 semapv:UnspecifiedMatching +obo:GARD_20379 Parasitic myositis skos:exactMatch Orphanet:206997 semapv:UnspecifiedMatching +obo:GARD_20380 Fungal myositis skos:exactMatch Orphanet:207000 semapv:UnspecifiedMatching +obo:GARD_20381 Spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 semapv:UnspecifiedMatching +obo:GARD_20382 Rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 semapv:UnspecifiedMatching +obo:GARD_20383 Rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 semapv:UnspecifiedMatching +obo:GARD_20384 Rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 semapv:UnspecifiedMatching +obo:GARD_20385 Cerebellar ataxia with peripheral neuropathy skos:exactMatch Orphanet:207028 semapv:UnspecifiedMatching +obo:GARD_20386 Acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 semapv:UnspecifiedMatching +obo:GARD_20387 Malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 semapv:UnspecifiedMatching +obo:GARD_20388 Qualitative or quantitative protein defects in neuromuscular diseases skos:exactMatch Orphanet:207049 semapv:UnspecifiedMatching +obo:GARD_20389 Qualitative or quantitative defects of sarcoglycan skos:exactMatch Orphanet:207052 semapv:UnspecifiedMatching +obo:GARD_20390 Qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:207060 semapv:UnspecifiedMatching +obo:GARD_20391 Qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:207063 semapv:UnspecifiedMatching +obo:GARD_20392 Qualitative or quantitative defects of gamma-sarcoglycan skos:exactMatch Orphanet:207067 semapv:UnspecifiedMatching +obo:GARD_20393 Qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch Orphanet:207070 semapv:UnspecifiedMatching +obo:GARD_20394 Qualitative or quantitative defects of caveolin-3 skos:exactMatch Orphanet:207078 semapv:UnspecifiedMatching +obo:GARD_20395 Qualitative or quantitative defects of collagen 6 skos:exactMatch Orphanet:207090 semapv:UnspecifiedMatching +obo:GARD_20396 Laminin subunit alpha 2-related muscular dystrophy skos:exactMatch Orphanet:207094 semapv:UnspecifiedMatching +obo:GARD_20397 Qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 semapv:UnspecifiedMatching +obo:GARD_20398 Qualitative or quantitative defects of perlecan skos:exactMatch Orphanet:207101 semapv:UnspecifiedMatching +obo:GARD_20399 Qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 semapv:UnspecifiedMatching +obo:GARD_20400 Qualitative or quantitative defects of TRIM32 skos:exactMatch Orphanet:207107 semapv:UnspecifiedMatching +obo:GARD_20401 Qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 semapv:UnspecifiedMatching +obo:GARD_20402 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:exactMatch Orphanet:207113 semapv:UnspecifiedMatching +obo:GARD_20403 Qualitative or quantitative defects of FKRP skos:exactMatch Orphanet:207119 semapv:UnspecifiedMatching +obo:GARD_20404 Qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 semapv:UnspecifiedMatching +obo:GARD_20405 Autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:208508 semapv:UnspecifiedMatching +obo:GARD_20406 Herpetiform pemphigus skos:exactMatch Orphanet:208524 semapv:UnspecifiedMatching +obo:GARD_20407 Genetic hypoparathyroidism skos:exactMatch Orphanet:208593 semapv:UnspecifiedMatching +obo:GARD_20408 Genetic hyperparathyroidism skos:exactMatch Orphanet:208596 semapv:UnspecifiedMatching +obo:GARD_20409 Chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 semapv:UnspecifiedMatching +obo:GARD_20410 Chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 semapv:UnspecifiedMatching +obo:GARD_20411 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies skos:exactMatch Orphanet:208981 semapv:UnspecifiedMatching +obo:GARD_20412 Acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 semapv:UnspecifiedMatching +obo:GARD_20413 Non-paraneoplastic sensory ganglionopathy skos:exactMatch Orphanet:208989 semapv:UnspecifiedMatching +obo:GARD_20414 Paraneoplastic sensory ganglionopathy skos:exactMatch Orphanet:208999 semapv:UnspecifiedMatching +obo:GARD_20415 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:exactMatch Orphanet:209004 semapv:UnspecifiedMatching +obo:GARD_20416 Systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 semapv:UnspecifiedMatching +obo:GARD_20417 Peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 semapv:UnspecifiedMatching +obo:GARD_20418 Acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 semapv:UnspecifiedMatching +obo:GARD_20419 Hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 semapv:UnspecifiedMatching +obo:GARD_20420 Solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 semapv:UnspecifiedMatching +obo:GARD_20421 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 semapv:UnspecifiedMatching +obo:GARD_20422 Qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 semapv:UnspecifiedMatching +obo:GARD_20423 Qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:exactMatch Orphanet:209030 semapv:UnspecifiedMatching +obo:GARD_20424 Qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:exactMatch Orphanet:209033 semapv:UnspecifiedMatching +obo:GARD_20425 Qualitative or quantitative defects of myofibrillar proteins skos:exactMatch Orphanet:209038 semapv:UnspecifiedMatching +obo:GARD_20426 Qualitative or quantitative defects of desmin skos:exactMatch Orphanet:209041 semapv:UnspecifiedMatching +obo:GARD_20427 Qualitative or quantitative defects of alphaB-cristallin skos:exactMatch Orphanet:209044 semapv:UnspecifiedMatching +obo:GARD_20428 Qualitative or quantitative defects of filamin C skos:exactMatch Orphanet:209047 semapv:UnspecifiedMatching +obo:GARD_20429 Qualitative or quantitative defects of protein ZASP skos:exactMatch Orphanet:209050 semapv:UnspecifiedMatching +obo:GARD_20430 Qualitative or quantitative defects of titin skos:exactMatch Orphanet:209053 semapv:UnspecifiedMatching +obo:GARD_20431 Qualitative or quantitative defects of telethonin skos:exactMatch Orphanet:209056 semapv:UnspecifiedMatching +obo:GARD_20432 Qualitative or quantitative defects of alpha-actin skos:exactMatch Orphanet:209059 semapv:UnspecifiedMatching +obo:GARD_20433 Qualitative or quantitative defects of nebulin skos:exactMatch Orphanet:209182 semapv:UnspecifiedMatching +obo:GARD_20434 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:exactMatch Orphanet:209185 semapv:UnspecifiedMatching +obo:GARD_20435 Qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 semapv:UnspecifiedMatching +obo:GARD_20436 Qualitative or quantitative defects of selenoprotein N1 skos:exactMatch Orphanet:209193 semapv:UnspecifiedMatching +obo:GARD_20437 Qualitative or quantitative defects of plectin skos:exactMatch Orphanet:209196 semapv:UnspecifiedMatching +obo:GARD_20438 Qualitative or quantitative defects of protein SERCA1 skos:exactMatch Orphanet:209199 semapv:UnspecifiedMatching +obo:GARD_20439 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - skos:exactMatch Orphanet:209203 semapv:UnspecifiedMatching +obo:GARD_2044 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch Orphanet:1816 semapv:UnspecifiedMatching +obo:GARD_2044 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:narrowMatch OMIM:246500 semapv:UnspecifiedMatching +obo:GARD_20440 Myotilinopathy skos:exactMatch Orphanet:209224 semapv:UnspecifiedMatching +obo:GARD_20441 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:exactMatch Orphanet:209902 semapv:UnspecifiedMatching +obo:GARD_20442 Idiopathic uveal effusion syndrome skos:exactMatch Orphanet:209956 semapv:UnspecifiedMatching +obo:GARD_20443 Phacoanaphylactic uveitis skos:exactMatch Orphanet:209959 semapv:UnspecifiedMatching +obo:GARD_20444 Solitary rectal ulcer syndrome skos:exactMatch Orphanet:209964 semapv:UnspecifiedMatching +obo:GARD_20445 Benign nocturnal alternating hemiplegia of childhood skos:exactMatch Orphanet:209973 semapv:UnspecifiedMatching +obo:GARD_20446 Alternating hemiplegia skos:exactMatch Orphanet:209978 semapv:UnspecifiedMatching +obo:GARD_20447 Non-papillary transitional cell carcinoma of the bladder skos:exactMatch Orphanet:209989 semapv:UnspecifiedMatching +obo:GARD_20448 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:exactMatch Orphanet:210133 semapv:UnspecifiedMatching +obo:GARD_20449 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:exactMatch Orphanet:210136 semapv:UnspecifiedMatching +obo:GARD_2045 Ectodermal dysplasia-blindness syndrome skos:exactMatch Orphanet:1806 semapv:UnspecifiedMatching +obo:GARD_2045 Ectodermal dysplasia-blindness syndrome skos:narrowMatch OMIM:268320 semapv:UnspecifiedMatching +obo:GARD_20450 Congenital temporomandibular joint ankylosis skos:exactMatch Orphanet:210576 semapv:UnspecifiedMatching +obo:GARD_20451 Temporomandibular joint anomaly skos:exactMatch Orphanet:210581 semapv:UnspecifiedMatching +obo:GARD_20452 Spindle cell hemangioma skos:exactMatch Orphanet:210584 semapv:UnspecifiedMatching +obo:GARD_20453 Infantile hemangioma of rare localization skos:exactMatch Orphanet:210589 semapv:UnspecifiedMatching +obo:GARD_20454 Autosomal dominant proximal spinal muscular atrophy skos:exactMatch Orphanet:211037 semapv:UnspecifiedMatching +obo:GARD_20455 Specific learning disability skos:exactMatch Orphanet:211047 semapv:UnspecifiedMatching +obo:GARD_20456 Specific language disorder skos:exactMatch Orphanet:211053 semapv:UnspecifiedMatching +obo:GARD_20457 Hereditary episodic ataxia skos:exactMatch Orphanet:211062 semapv:UnspecifiedMatching +obo:GARD_20458 Rare vascular tumor skos:exactMatch Orphanet:211237 semapv:UnspecifiedMatching +obo:GARD_20459 Genetic vascular anomaly skos:exactMatch Orphanet:211240 semapv:UnspecifiedMatching +obo:GARD_20460 Simple vascular malformation skos:exactMatch Orphanet:211243 semapv:UnspecifiedMatching +obo:GARD_20461 Rare capillary malformation skos:exactMatch Orphanet:211247 semapv:UnspecifiedMatching +obo:GARD_20462 Rare venous malformation skos:exactMatch Orphanet:211252 semapv:UnspecifiedMatching +obo:GARD_20463 Rare lymphatic system anomaly skos:exactMatch Orphanet:211255 semapv:UnspecifiedMatching +obo:GARD_20464 Rare arteriovenous malformation skos:exactMatch Orphanet:211266 semapv:UnspecifiedMatching +obo:GARD_20465 Complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 semapv:UnspecifiedMatching +obo:GARD_20466 Adenocarcinoma of ovary skos:exactMatch Orphanet:213504 semapv:UnspecifiedMatching +obo:GARD_20467 Familial ovarian cancer skos:exactMatch Orphanet:213517 semapv:UnspecifiedMatching +obo:GARD_20468 Hereditary site-specific ovarian cancer syndrome skos:exactMatch Orphanet:213524 semapv:UnspecifiedMatching +obo:GARD_20469 Rare uterine cancer skos:exactMatch Orphanet:213564 semapv:UnspecifiedMatching +obo:GARD_20470 Rare cancer of corpus uteri skos:exactMatch Orphanet:213569 semapv:UnspecifiedMatching +obo:GARD_20471 Rare variants of adenocarcinoma of the corpus uteri skos:exactMatch Orphanet:213574 semapv:UnspecifiedMatching +obo:GARD_20472 Malignant mixed epithelial and mesenchymal tumor of corpus uteri skos:exactMatch Orphanet:213589 semapv:UnspecifiedMatching +obo:GARD_20473 Adenosarcoma of the corpus uteri skos:exactMatch Orphanet:213600 semapv:UnspecifiedMatching +obo:GARD_20474 Carcinofibroma of the corpus uteri skos:exactMatch Orphanet:213605 semapv:UnspecifiedMatching +obo:GARD_20475 Rhabdomyosarcoma of the corpus uteri skos:exactMatch Orphanet:213615 semapv:UnspecifiedMatching +obo:GARD_20476 Sarcoma of the corpus uteri skos:exactMatch Orphanet:213620 semapv:UnspecifiedMatching +obo:GARD_20477 Leiomyosarcoma of the corpus uteri skos:exactMatch Orphanet:213625 semapv:UnspecifiedMatching +obo:GARD_20478 Primitive neuroectodermal tumor of the corpus uteri skos:exactMatch Orphanet:213630 semapv:UnspecifiedMatching +obo:GARD_20479 Squamous cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213716 semapv:UnspecifiedMatching +obo:GARD_2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:1810 semapv:UnspecifiedMatching +obo:GARD_2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:129490 semapv:UnspecifiedMatching +obo:GARD_2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614940 semapv:UnspecifiedMatching +obo:GARD_2048 Autosomal dominant hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:617337 semapv:UnspecifiedMatching +obo:GARD_20480 Undifferentiated carcinoma of the corpus uteri skos:exactMatch Orphanet:213721 semapv:UnspecifiedMatching +obo:GARD_20481 Serous carcinoma of the corpus uteri skos:exactMatch Orphanet:213726 semapv:UnspecifiedMatching +obo:GARD_20482 High-grade neuroendocrine carcinoma of the corpus uteri skos:exactMatch Orphanet:213731 semapv:UnspecifiedMatching +obo:GARD_20483 Low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch Orphanet:213736 semapv:UnspecifiedMatching +obo:GARD_20484 Transitional cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213746 semapv:UnspecifiedMatching +obo:GARD_20485 Malignant germ cell tumor of the corpus uteri skos:exactMatch Orphanet:213751 semapv:UnspecifiedMatching +obo:GARD_20486 Rare cancer of cervix uteri skos:exactMatch Orphanet:213761 semapv:UnspecifiedMatching +obo:GARD_20487 Squamous cell carcinoma of the cervix uteri skos:exactMatch Orphanet:213767 semapv:UnspecifiedMatching +obo:GARD_20488 Adenocarcinoma of the cervix uteri skos:exactMatch Orphanet:213772 semapv:UnspecifiedMatching +obo:GARD_20489 High-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch Orphanet:213777 semapv:UnspecifiedMatching +obo:GARD_2049 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch Orphanet:1882 semapv:UnspecifiedMatching +obo:GARD_2049 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:narrowMatch OMIM:225050 semapv:UnspecifiedMatching +obo:GARD_20490 Malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch Orphanet:213782 semapv:UnspecifiedMatching +obo:GARD_20491 Carcinosarcoma of the cervix uteri skos:exactMatch Orphanet:213787 semapv:UnspecifiedMatching +obo:GARD_20492 Adenosarcoma of the cervix uteri skos:exactMatch Orphanet:213792 semapv:UnspecifiedMatching +obo:GARD_20493 Sarcoma of cervix uteri skos:exactMatch Orphanet:213797 semapv:UnspecifiedMatching +obo:GARD_20494 Rhabdomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213802 semapv:UnspecifiedMatching +obo:GARD_20495 Leiomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213807 semapv:UnspecifiedMatching +obo:GARD_20496 Primitive neuroectodermal tumor of the cervix uteri skos:exactMatch Orphanet:213812 semapv:UnspecifiedMatching +obo:GARD_20497 Papillary carcinoma of the cervix uteri skos:exactMatch Orphanet:213817 semapv:UnspecifiedMatching +obo:GARD_20498 Adenoid cystic carcinoma of the cervix uteri skos:exactMatch Orphanet:213823 semapv:UnspecifiedMatching +obo:GARD_20499 Adenoid basal carcinoma of the cervix uteri skos:exactMatch Orphanet:213828 semapv:UnspecifiedMatching +obo:GARD_20500 Glassy cell carcinoma of the cervix uteri skos:exactMatch Orphanet:213833 semapv:UnspecifiedMatching +obo:GARD_20501 Malignant germ cell tumor of the cervix uteri skos:exactMatch Orphanet:213837 semapv:UnspecifiedMatching +obo:GARD_20502 Isolated congenitally uncorrected transposition of the great arteries skos:exactMatch Orphanet:216718 semapv:UnspecifiedMatching +obo:GARD_20503 Congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch Orphanet:216729 semapv:UnspecifiedMatching +obo:GARD_20504 Niemann-Pick disease type C, severe perinatal form skos:exactMatch Orphanet:216972 semapv:UnspecifiedMatching +obo:GARD_20505 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch Orphanet:216975 semapv:UnspecifiedMatching +obo:GARD_20506 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch Orphanet:216978 semapv:UnspecifiedMatching +obo:GARD_20507 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch Orphanet:216981 semapv:UnspecifiedMatching +obo:GARD_20508 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch Orphanet:216986 semapv:UnspecifiedMatching +obo:GARD_20509 5-fluorouracil poisoning skos:exactMatch Orphanet:217064 semapv:UnspecifiedMatching +obo:GARD_20510 Pouchitis skos:exactMatch Orphanet:217067 semapv:UnspecifiedMatching +obo:GARD_20511 Rare carcinoma of pancreas skos:exactMatch Orphanet:217074 semapv:UnspecifiedMatching +obo:GARD_20512 Pulmonary fungal infections in patients deemed at risk skos:exactMatch Orphanet:217080 semapv:UnspecifiedMatching +obo:GARD_20513 NMDA receptor encephalitis skos:exactMatch Orphanet:217253 semapv:UnspecifiedMatching +obo:GARD_20514 Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation skos:exactMatch Orphanet:217399 semapv:UnspecifiedMatching +obo:GARD_20515 Rare hereditary thrombophilia skos:exactMatch Orphanet:217454 semapv:UnspecifiedMatching +obo:GARD_20516 Pulmonary interstitial glycogenosis skos:exactMatch Orphanet:217557 semapv:UnspecifiedMatching +obo:GARD_20517 Neuroendocrine cell hyperplasia of infancy skos:exactMatch Orphanet:217560 semapv:UnspecifiedMatching +obo:GARD_20518 Rare hypertrophic cardiomyopathy skos:exactMatch Orphanet:217569 semapv:UnspecifiedMatching +obo:GARD_20519 Glycogen storage disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217572 semapv:UnspecifiedMatching +obo:GARD_20520 Lysosomal disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217581 semapv:UnspecifiedMatching +obo:GARD_20521 Mitochondrial disease with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217587 semapv:UnspecifiedMatching +obo:GARD_20522 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217591 semapv:UnspecifiedMatching +obo:GARD_20523 Syndrome associated with hypertrophic cardiomyopathy skos:exactMatch Orphanet:217595 semapv:UnspecifiedMatching +obo:GARD_20524 Non-familial hypertrophic cardiomyopathy skos:exactMatch Orphanet:217598 semapv:UnspecifiedMatching +obo:GARD_20525 Familial dilated cardiomyopathy skos:exactMatch Orphanet:217607 semapv:UnspecifiedMatching +obo:GARD_20526 Neuromuscular disease with dilated cardiomyopathy skos:exactMatch Orphanet:217610 semapv:UnspecifiedMatching +obo:GARD_20527 Mitochondrial disease with dilated cardiomyopathy skos:exactMatch Orphanet:217613 semapv:UnspecifiedMatching +obo:GARD_20528 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy skos:exactMatch Orphanet:217616 semapv:UnspecifiedMatching +obo:GARD_20529 Syndrome associated with dilated cardiomyopathy skos:exactMatch Orphanet:217619 semapv:UnspecifiedMatching +obo:GARD_20530 Non-familial dilated cardiomyopathy skos:exactMatch Orphanet:217629 semapv:UnspecifiedMatching +obo:GARD_20531 Restrictive cardiomyopathy skos:exactMatch Orphanet:217632 semapv:UnspecifiedMatching +obo:GARD_20532 Familial restrictive cardiomyopathy skos:exactMatch Orphanet:217635 semapv:UnspecifiedMatching +obo:GARD_20533 Lysosomal disease with restrictive cardiomyopathy skos:exactMatch Orphanet:217638 semapv:UnspecifiedMatching +obo:GARD_20534 Unclassified cardiomyopathy skos:exactMatch Orphanet:217678 semapv:UnspecifiedMatching +obo:GARD_20535 Non-familial restrictive cardiomyopathy skos:exactMatch Orphanet:217720 semapv:UnspecifiedMatching +obo:GARD_20536 Rare cardiac rhythm disease skos:exactMatch Orphanet:218436 semapv:UnspecifiedMatching +obo:GARD_20537 Non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 semapv:UnspecifiedMatching +obo:GARD_20538 Macrothrombocytopenia with mitral valve insufficiency skos:exactMatch Orphanet:220448 semapv:UnspecifiedMatching +obo:GARD_20539 Isolated hereditary giant platelet disorder skos:exactMatch Orphanet:220452 semapv:UnspecifiedMatching +obo:GARD_20540 Rare hereditary hemochromatosis skos:exactMatch Orphanet:220489 semapv:UnspecifiedMatching +obo:GARD_20541 Combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch Orphanet:221078 semapv:UnspecifiedMatching +obo:GARD_20542 Cranial neuralgia skos:exactMatch Orphanet:221109 semapv:UnspecifiedMatching +obo:GARD_20543 Acquired peripheral movement disorder skos:exactMatch Orphanet:221114 semapv:UnspecifiedMatching +obo:GARD_20544 Confetti-like macular atrophy skos:exactMatch Orphanet:221142 semapv:UnspecifiedMatching +obo:GARD_20545 Hereditary poikiloderma skos:exactMatch Orphanet:222628 semapv:UnspecifiedMatching +obo:GARD_20546 Mitochondrial oxidative phosphorylation disorder skos:exactMatch Orphanet:223713 semapv:UnspecifiedMatching +obo:GARD_20547 Bone sarcoma skos:exactMatch Orphanet:223727 semapv:UnspecifiedMatching +obo:GARD_20548 Lymphoma skos:exactMatch Orphanet:223735 semapv:UnspecifiedMatching +obo:GARD_20549 Sporadic infantile bilateral striatal necrosis skos:exactMatch Orphanet:225147 semapv:UnspecifiedMatching +obo:GARD_2055 Ectodermal dysplasia, trichoodontoonychial type skos:exactMatch Orphanet:1818 semapv:UnspecifiedMatching +obo:GARD_2055 Ectodermal dysplasia, trichoodontoonychial type skos:narrowMatch OMIM:129510 semapv:UnspecifiedMatching +obo:GARD_20550 Lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 semapv:UnspecifiedMatching +obo:GARD_20551 Peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 semapv:UnspecifiedMatching +obo:GARD_20552 Amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 semapv:UnspecifiedMatching +obo:GARD_20553 Metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 semapv:UnspecifiedMatching +obo:GARD_20554 Energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 semapv:UnspecifiedMatching +obo:GARD_20555 Mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 semapv:UnspecifiedMatching +obo:GARD_20556 Mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 semapv:UnspecifiedMatching +obo:GARD_20557 Metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 semapv:UnspecifiedMatching +obo:GARD_20558 Sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 semapv:UnspecifiedMatching +obo:GARD_20559 Other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 semapv:UnspecifiedMatching +obo:GARD_2056 Hidrotic ectodermal dysplasia skos:exactMatch Orphanet:189 semapv:UnspecifiedMatching +obo:GARD_2056 Hidrotic ectodermal dysplasia skos:narrowMatch OMIM:129500 semapv:UnspecifiedMatching +obo:GARD_20560 Permanent congenital hypothyroidism skos:exactMatch Orphanet:226292 semapv:UnspecifiedMatching +obo:GARD_20561 Primary congenital hypothyroidism skos:exactMatch Orphanet:226295 semapv:UnspecifiedMatching +obo:GARD_20562 Hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:exactMatch Orphanet:226307 semapv:UnspecifiedMatching +obo:GARD_20563 Congenital hypothyroidism due to maternal intake of antithyroid drugs skos:exactMatch Orphanet:226313 semapv:UnspecifiedMatching +obo:GARD_20564 Genetic transient congenital hypothyroidism skos:exactMatch Orphanet:226316 semapv:UnspecifiedMatching +obo:GARD_20565 Multiple system atrophy, cerebellar type skos:exactMatch Orphanet:227510 semapv:UnspecifiedMatching +obo:GARD_20566 Toxic oil syndrome skos:exactMatch Orphanet:227972 semapv:UnspecifiedMatching +obo:GARD_20567 Autoimmune polyendocrinopathy type 4 skos:exactMatch Orphanet:227990 semapv:UnspecifiedMatching +obo:GARD_20568 Anal fistula skos:exactMatch Orphanet:228113 semapv:UnspecifiedMatching +obo:GARD_20569 Hughes-Stovin syndrome skos:exactMatch Orphanet:228116 semapv:UnspecifiedMatching +obo:GARD_2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:248 semapv:UnspecifiedMatching +obo:GARD_2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:224900 semapv:UnspecifiedMatching +obo:GARD_2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614941 semapv:UnspecifiedMatching +obo:GARD_2057 Autosomal recessive hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:618535 semapv:UnspecifiedMatching +obo:GARD_20570 Fusariosis skos:exactMatch Orphanet:228119 semapv:UnspecifiedMatching +obo:GARD_20571 Multiple sclerosis variant skos:exactMatch Orphanet:228145 semapv:UnspecifiedMatching +obo:GARD_20572 Marburg acute multiple sclerosis skos:exactMatch Orphanet:228157 semapv:UnspecifiedMatching +obo:GARD_20573 Heart-hand syndrome skos:exactMatch Orphanet:228184 semapv:UnspecifiedMatching +obo:GARD_20574 Genetic dermis elastic tissue disorder skos:exactMatch Orphanet:228215 semapv:UnspecifiedMatching +obo:GARD_20575 Acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 semapv:UnspecifiedMatching +obo:GARD_20576 Acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 semapv:UnspecifiedMatching +obo:GARD_20577 Acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 semapv:UnspecifiedMatching +obo:GARD_20578 Late-onset focal dermal elastosis skos:exactMatch Orphanet:228227 semapv:UnspecifiedMatching +obo:GARD_20579 Linear focal elastosis skos:exactMatch Orphanet:228236 semapv:UnspecifiedMatching +obo:GARD_20580 Elastofibroma dorsi skos:exactMatch Orphanet:228243 semapv:UnspecifiedMatching +obo:GARD_20581 Acquired pseudoxanthoma elasticum skos:exactMatch Orphanet:228247 semapv:UnspecifiedMatching +obo:GARD_20582 Elastoma skos:exactMatch Orphanet:228254 semapv:UnspecifiedMatching +obo:GARD_20583 Papular elastorrhexis skos:exactMatch Orphanet:228264 semapv:UnspecifiedMatching +obo:GARD_20584 Primary anetoderma skos:exactMatch Orphanet:228272 semapv:UnspecifiedMatching +obo:GARD_20585 Familial anetoderma skos:exactMatch Orphanet:228277 semapv:UnspecifiedMatching +obo:GARD_20586 Acquired cutis laxa skos:exactMatch Orphanet:228285 semapv:UnspecifiedMatching +obo:GARD_20587 White fibrous papulosis of the neck skos:exactMatch Orphanet:228290 semapv:UnspecifiedMatching +obo:GARD_20588 Pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch Orphanet:228293 semapv:UnspecifiedMatching +obo:GARD_20589 Mid-dermal elastolysis skos:exactMatch Orphanet:228299 semapv:UnspecifiedMatching +obo:GARD_20590 Autoimmune hemolytic anemia, cold type skos:exactMatch Orphanet:228312 semapv:UnspecifiedMatching +obo:GARD_20591 Foodborne botulism skos:exactMatch Orphanet:228371 semapv:UnspecifiedMatching +obo:GARD_20592 Virus-associated trichodysplasia spinulosa skos:exactMatch Orphanet:228379 semapv:UnspecifiedMatching +obo:GARD_20593 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:exactMatch Orphanet:228396 semapv:UnspecifiedMatching +obo:GARD_20594 Polyvalvular heart disease syndrome skos:exactMatch Orphanet:228410 semapv:UnspecifiedMatching +obo:GARD_20595 5q35 microduplication syndrome skos:exactMatch Orphanet:228415 semapv:UnspecifiedMatching +obo:GARD_20596 Syndromic agammaglobulinemia skos:exactMatch Orphanet:229720 semapv:UnspecifiedMatching +obo:GARD_20597 Toxin-mediated infectious botulism skos:exactMatch Orphanet:230800 semapv:UnspecifiedMatching +obo:GARD_20598 High-grade dysplasia in patients with Barrett esophagus skos:exactMatch Orphanet:231080 semapv:UnspecifiedMatching +obo:GARD_20599 Drug-induced lupus erythematosus skos:exactMatch Orphanet:231111 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:exactMatch Orphanet:655 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:256100 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:602088 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:604387 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:606966 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:611498 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:613159 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:613820 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:613824 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:614377 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:615382 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:615862 semapv:UnspecifiedMatching +obo:GARD_206 Nephronophthisis skos:narrowMatch OMIM:617271 semapv:UnspecifiedMatching +obo:GARD_2060 Ectopia lentis 2, isolated, autosomal recessive skos:broadMatch Orphanet:1885 semapv:UnspecifiedMatching +obo:GARD_2060 Ectopia lentis 2, isolated, autosomal recessive skos:exactMatch OMIM:225100 semapv:UnspecifiedMatching +obo:GARD_20600 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:exactMatch Orphanet:231117 semapv:UnspecifiedMatching +obo:GARD_20601 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:exactMatch Orphanet:231127 semapv:UnspecifiedMatching +obo:GARD_20602 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:exactMatch Orphanet:231130 semapv:UnspecifiedMatching +obo:GARD_20603 Silver-Russell syndrome due to 7p11.2p13 microduplication skos:exactMatch Orphanet:231137 semapv:UnspecifiedMatching +obo:GARD_20604 Silver-Russell syndrome due to an imprinting defect of 11p15 skos:exactMatch Orphanet:231140 semapv:UnspecifiedMatching +obo:GARD_20605 Silver-Russell syndrome due to 11p15 microduplication skos:exactMatch Orphanet:231144 semapv:UnspecifiedMatching +obo:GARD_20606 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:231147 semapv:UnspecifiedMatching +obo:GARD_20607 Beta-thalassemia associated with another hemoglobin anomaly skos:exactMatch Orphanet:231230 semapv:UnspecifiedMatching +obo:GARD_20608 Hemoglobin C-beta-thalassemia syndrome skos:exactMatch Orphanet:231242 semapv:UnspecifiedMatching +obo:GARD_20609 Hemoglobin E-beta-thalassemia syndrome skos:exactMatch Orphanet:231249 semapv:UnspecifiedMatching +obo:GARD_20610 Beta-thalassemia with other manifestations skos:exactMatch Orphanet:231386 semapv:UnspecifiedMatching +obo:GARD_20611 Variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231413 semapv:UnspecifiedMatching +obo:GARD_20612 Regional variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231416 semapv:UnspecifiedMatching +obo:GARD_20613 Functional variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231419 semapv:UnspecifiedMatching +obo:GARD_20614 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231426 semapv:UnspecifiedMatching +obo:GARD_20615 Paraparetic variant of Guillain-Barré syndrome skos:exactMatch Orphanet:231445 semapv:UnspecifiedMatching +obo:GARD_20616 Acute pure sensory neuropathy skos:exactMatch Orphanet:231450 semapv:UnspecifiedMatching +obo:GARD_20617 Acute pandysautonomia skos:exactMatch Orphanet:231457 semapv:UnspecifiedMatching +obo:GARD_20618 Acute sensory ataxic neuropathy skos:exactMatch Orphanet:231466 semapv:UnspecifiedMatching +obo:GARD_20619 Congenital erosive and vesicular dermatosis skos:exactMatch Orphanet:231573 semapv:UnspecifiedMatching +obo:GARD_20620 Primary unilateral adrenal hyperplasia skos:exactMatch Orphanet:231580 semapv:UnspecifiedMatching +obo:GARD_20621 Adrenocortical carcinoma with pure aldosterone hypersecretion skos:exactMatch Orphanet:231625 semapv:UnspecifiedMatching +obo:GARD_20622 Ectopic aldosterone-producing tumor skos:exactMatch Orphanet:231632 semapv:UnspecifiedMatching +obo:GARD_20623 Rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 semapv:UnspecifiedMatching +obo:GARD_20624 Rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 semapv:UnspecifiedMatching +obo:GARD_20625 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:exactMatch Orphanet:231742 semapv:UnspecifiedMatching +obo:GARD_20626 Infectious embryofetopathy skos:exactMatch Orphanet:232035 semapv:UnspecifiedMatching +obo:GARD_20627 Syndrome with alpha-thalassemia as a major feature skos:exactMatch Orphanet:232288 semapv:UnspecifiedMatching +obo:GARD_20628 Rare genetic vascular disease skos:exactMatch Orphanet:233655 semapv:UnspecifiedMatching +obo:GARD_20629 Congenital vascular bone syndrome skos:exactMatch Orphanet:235832 semapv:UnspecifiedMatching +obo:GARD_20630 Familial hyperaldosteronism skos:exactMatch Orphanet:235936 semapv:UnspecifiedMatching +obo:GARD_20631 AApoAII amyloidosis skos:exactMatch Orphanet:238269 semapv:UnspecifiedMatching +obo:GARD_20632 Infundibulo-neurohypophysitis skos:exactMatch Orphanet:238305 semapv:UnspecifiedMatching +obo:GARD_20633 Lymphoproliferative syndrome skos:exactMatch Orphanet:238510 semapv:UnspecifiedMatching +obo:GARD_20634 Hypotonia-cystinuria type 1 syndrome skos:exactMatch Orphanet:238517 semapv:UnspecifiedMatching +obo:GARD_20635 Congenital secondary polycythemia skos:exactMatch Orphanet:238536 semapv:UnspecifiedMatching +obo:GARD_20636 Acquired secondary polycythemia skos:exactMatch Orphanet:238547 semapv:UnspecifiedMatching +obo:GARD_20637 Ileal pouch anal anastomosis related faecal incontinence skos:exactMatch Orphanet:238621 semapv:UnspecifiedMatching +obo:GARD_20638 Megacystis-megaureter syndrome skos:exactMatch Orphanet:238637 semapv:UnspecifiedMatching +obo:GARD_20639 Primary megaureter, adult-onset form skos:exactMatch Orphanet:238642 semapv:UnspecifiedMatching +obo:GARD_20640 Congenital primary megaureter, obstructed form skos:exactMatch Orphanet:238646 semapv:UnspecifiedMatching +obo:GARD_20641 Congenital primary megaureter, refluxing form skos:exactMatch Orphanet:238650 semapv:UnspecifiedMatching +obo:GARD_20642 Congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch Orphanet:238654 semapv:UnspecifiedMatching +obo:GARD_20643 Isolated congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 semapv:UnspecifiedMatching +obo:GARD_20644 Neonatal iodine exposure skos:exactMatch Orphanet:238688 semapv:UnspecifiedMatching +obo:GARD_20645 Transient congenital hypothyroidism due to maternal factor skos:exactMatch Orphanet:238696 semapv:UnspecifiedMatching +obo:GARD_20646 Transient congenital hypothyroidism due to neonatal factor skos:exactMatch Orphanet:238699 semapv:UnspecifiedMatching +obo:GARD_20647 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:exactMatch Orphanet:240094 semapv:UnspecifiedMatching +obo:GARD_20648 Progressive supranuclear palsy-corticobasal syndrome skos:exactMatch Orphanet:240103 semapv:UnspecifiedMatching +obo:GARD_20649 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:exactMatch Orphanet:240112 semapv:UnspecifiedMatching +obo:GARD_20650 Syndromic obesity skos:exactMatch Orphanet:240371 semapv:UnspecifiedMatching +obo:GARD_20651 De novo thrombotic microangiopathy after kidney transplantation skos:exactMatch Orphanet:244275 semapv:UnspecifiedMatching +obo:GARD_20652 Biliary atresia with splenic malformation syndrome skos:exactMatch Orphanet:244283 semapv:UnspecifiedMatching +obo:GARD_20653 Infantile mercury poisoning skos:exactMatch Orphanet:247165 semapv:UnspecifiedMatching +obo:GARD_20654 Sporadic adult-onset ataxia of unknown etiology skos:exactMatch Orphanet:247234 semapv:UnspecifiedMatching +obo:GARD_20655 Non-hereditary degenerative ataxia skos:exactMatch Orphanet:247239 semapv:UnspecifiedMatching +obo:GARD_20656 Acquired ataxia skos:exactMatch Orphanet:247242 semapv:UnspecifiedMatching +obo:GARD_20657 Inhalational anthrax skos:exactMatch Orphanet:247257 semapv:UnspecifiedMatching +obo:GARD_20658 Autosomal recessive secondary polycythemia not associated with VHL gene skos:exactMatch Orphanet:247378 semapv:UnspecifiedMatching +obo:GARD_20659 Acute neonatal citrullinemia type I skos:exactMatch Orphanet:247546 semapv:UnspecifiedMatching +obo:GARD_20660 Adult-onset citrullinemia type I skos:exactMatch Orphanet:247573 semapv:UnspecifiedMatching +obo:GARD_20661 Citrin deficiency skos:exactMatch Orphanet:247582 semapv:UnspecifiedMatching +obo:GARD_20662 Prenatal benign hypophosphatasia skos:exactMatch Orphanet:247638 semapv:UnspecifiedMatching +obo:GARD_20663 Inflammatory myopathy with abundant macrophages skos:exactMatch Orphanet:247718 semapv:UnspecifiedMatching +obo:GARD_20664 Idiopathic eosinophilic myositis skos:exactMatch Orphanet:247724 semapv:UnspecifiedMatching +obo:GARD_20665 X-linked cerebellar ataxia skos:exactMatch Orphanet:247765 semapv:UnspecifiedMatching +obo:GARD_20666 Autosomal recessive ataxia due to PEX10 deficiency skos:exactMatch Orphanet:247815 semapv:UnspecifiedMatching +obo:GARD_20667 Primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:248095 semapv:UnspecifiedMatching +obo:GARD_20668 Rare deficiency anemia skos:exactMatch Orphanet:248293 semapv:UnspecifiedMatching +obo:GARD_20669 Constitutional deficiency anemia skos:exactMatch Orphanet:248296 semapv:UnspecifiedMatching +obo:GARD_20670 Rare acquired deficiency anemia skos:exactMatch Orphanet:248302 semapv:UnspecifiedMatching +obo:GARD_20671 Rare hemorrhagic disorder skos:exactMatch Orphanet:248308 semapv:UnspecifiedMatching +obo:GARD_20672 Rare hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 semapv:UnspecifiedMatching +obo:GARD_20673 Rare hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 semapv:UnspecifiedMatching +obo:GARD_20674 Isolated delta-storage pool disease skos:exactMatch Orphanet:248340 semapv:UnspecifiedMatching +obo:GARD_20675 Rare hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 semapv:UnspecifiedMatching +obo:GARD_20676 Rare thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 semapv:UnspecifiedMatching +obo:GARD_20677 Rare thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 semapv:UnspecifiedMatching +obo:GARD_20678 Rare thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 semapv:UnspecifiedMatching +obo:GARD_20679 Rare thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 semapv:UnspecifiedMatching +obo:GARD_2068 Ectrodactyly-polydactyly syndrome skos:exactMatch Orphanet:1892 semapv:UnspecifiedMatching +obo:GARD_2068 Ectrodactyly-polydactyly syndrome skos:narrowMatch OMIM:225290 semapv:UnspecifiedMatching +obo:GARD_20680 Rare thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 semapv:UnspecifiedMatching +obo:GARD_20681 Rare thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 semapv:UnspecifiedMatching +obo:GARD_20682 Genetic polycythemia skos:exactMatch Orphanet:250165 semapv:UnspecifiedMatching +obo:GARD_20683 Serpinopathy skos:exactMatch Orphanet:250805 semapv:UnspecifiedMatching +obo:GARD_20684 Serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 semapv:UnspecifiedMatching +obo:GARD_20685 Serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 semapv:UnspecifiedMatching +obo:GARD_20686 Autosomal dominant optic atrophy and peripheral neuropathy skos:exactMatch Orphanet:250932 semapv:UnspecifiedMatching +obo:GARD_20687 Polymicrogyria with optic nerve hypoplasia skos:exactMatch Orphanet:250972 semapv:UnspecifiedMatching +obo:GARD_20688 Paternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251004 semapv:UnspecifiedMatching +obo:GARD_20689 Maternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251009 semapv:UnspecifiedMatching +obo:GARD_20690 2q31.1 microdeletion syndrome skos:exactMatch Orphanet:251014 semapv:UnspecifiedMatching +obo:GARD_20691 6p22 microdeletion syndrome skos:exactMatch Orphanet:251046 semapv:UnspecifiedMatching +obo:GARD_20692 7q31 microdeletion syndrome skos:exactMatch Orphanet:251061 semapv:UnspecifiedMatching +obo:GARD_20693 8p11.2 deletion syndrome skos:exactMatch Orphanet:251066 semapv:UnspecifiedMatching +obo:GARD_20694 Infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch Orphanet:251304 semapv:UnspecifiedMatching +obo:GARD_20695 Idiopathic recurrent pericarditis skos:exactMatch Orphanet:251307 semapv:UnspecifiedMatching +obo:GARD_20696 Overlapping connective tissue disease skos:exactMatch Orphanet:251312 semapv:UnspecifiedMatching +obo:GARD_20697 Drug-induced vasculitis skos:exactMatch Orphanet:251325 semapv:UnspecifiedMatching +obo:GARD_20698 Unclassified vasculitis skos:exactMatch Orphanet:251328 semapv:UnspecifiedMatching +obo:GARD_20699 Unexplained long-lasting fever/inflammatory syndrome skos:exactMatch Orphanet:251332 semapv:UnspecifiedMatching +obo:GARD_207 Alveolar echinococcosis skos:exactMatch Orphanet:284 semapv:UnspecifiedMatching +obo:GARD_20700 Sickle cell-hemoglobin E disease syndrome skos:exactMatch Orphanet:251375 semapv:UnspecifiedMatching +obo:GARD_20701 Toxic or drug-related embryofetopathy skos:exactMatch Orphanet:251529 semapv:UnspecifiedMatching +obo:GARD_20702 Maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 semapv:UnspecifiedMatching +obo:GARD_20703 Rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 semapv:UnspecifiedMatching +obo:GARD_20704 High-grade astrocytoma skos:exactMatch Orphanet:251561 semapv:UnspecifiedMatching +obo:GARD_20705 Giant cell glioblastoma skos:exactMatch Orphanet:251579 semapv:UnspecifiedMatching +obo:GARD_20706 Low-grade astrocytoma skos:exactMatch Orphanet:251592 semapv:UnspecifiedMatching +obo:GARD_20707 Protoplasmic astrocytoma skos:exactMatch Orphanet:251598 semapv:UnspecifiedMatching +obo:GARD_20708 Fibrillary astrocytoma skos:exactMatch Orphanet:251601 semapv:UnspecifiedMatching +obo:GARD_20709 Gemistocytic astrocytoma skos:exactMatch Orphanet:251604 semapv:UnspecifiedMatching +obo:GARD_2071 Blepharo-cheilo-odontic syndrome skos:exactMatch Orphanet:1997 semapv:UnspecifiedMatching +obo:GARD_2071 Blepharo-cheilo-odontic syndrome skos:narrowMatch OMIM:119580 semapv:UnspecifiedMatching +obo:GARD_2071 Blepharo-cheilo-odontic syndrome skos:narrowMatch OMIM:617681 semapv:UnspecifiedMatching +obo:GARD_20710 Pilomyxoid astrocytoma skos:exactMatch Orphanet:251615 semapv:UnspecifiedMatching +obo:GARD_20711 Pituicytoma skos:exactMatch Orphanet:251623 semapv:UnspecifiedMatching +obo:GARD_20712 Oligoastrocytic tumor skos:exactMatch Orphanet:251651 semapv:UnspecifiedMatching +obo:GARD_20713 Glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 semapv:UnspecifiedMatching +obo:GARD_20714 Angiocentric glioma skos:exactMatch Orphanet:251671 semapv:UnspecifiedMatching +obo:GARD_20715 Chordoid glioma skos:exactMatch Orphanet:251674 semapv:UnspecifiedMatching +obo:GARD_20716 Embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 semapv:UnspecifiedMatching +obo:GARD_20717 Anaplastic/large cell medulloblastoma skos:exactMatch Orphanet:251855 semapv:UnspecifiedMatching +obo:GARD_20718 Central nervous system embryonal tumor skos:exactMatch Orphanet:251870 semapv:UnspecifiedMatching +obo:GARD_20719 Ganglioneuroblastoma skos:exactMatch Orphanet:251877 semapv:UnspecifiedMatching +obo:GARD_20720 Ependymoblastoma skos:exactMatch Orphanet:251880 semapv:UnspecifiedMatching +obo:GARD_20721 Medulloepithelioma of the central nervous system skos:exactMatch Orphanet:251883 semapv:UnspecifiedMatching +obo:GARD_20722 Choroid plexus tumor skos:exactMatch Orphanet:251896 semapv:UnspecifiedMatching +obo:GARD_20723 Atypical papilloma of choroid plexus skos:exactMatch Orphanet:251902 semapv:UnspecifiedMatching +obo:GARD_20724 Pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 semapv:UnspecifiedMatching +obo:GARD_20725 Papillary tumor of the pineal region skos:exactMatch Orphanet:251915 semapv:UnspecifiedMatching +obo:GARD_20726 Neuronal tumor skos:exactMatch Orphanet:251924 semapv:UnspecifiedMatching +obo:GARD_20727 Extraventricular neurocytoma skos:exactMatch Orphanet:251927 semapv:UnspecifiedMatching +obo:GARD_20728 Mixed neuronal-glial tumor skos:exactMatch Orphanet:251934 semapv:UnspecifiedMatching +obo:GARD_20729 Desmoplastic infantile astrocytoma/ganglioglioma skos:exactMatch Orphanet:251940 semapv:UnspecifiedMatching +obo:GARD_20730 Papillary glioneuronal tumor skos:exactMatch Orphanet:251962 semapv:UnspecifiedMatching +obo:GARD_20731 Ganglioneuroma skos:exactMatch Orphanet:251992 semapv:UnspecifiedMatching +obo:GARD_20732 Primary germ cell tumor of central nervous system skos:exactMatch Orphanet:251995 semapv:UnspecifiedMatching +obo:GARD_20733 Yolk sac tumor of central nervous system skos:exactMatch Orphanet:252006 semapv:UnspecifiedMatching +obo:GARD_20734 Choriocarcinoma of the central nervous system skos:exactMatch Orphanet:252015 semapv:UnspecifiedMatching +obo:GARD_20735 Teratoma of the central nervous system skos:exactMatch Orphanet:252018 semapv:UnspecifiedMatching +obo:GARD_20736 Mixed germ cell tumor of central nervous system skos:exactMatch Orphanet:252021 semapv:UnspecifiedMatching +obo:GARD_20737 Tumor of meninges skos:exactMatch Orphanet:252025 semapv:UnspecifiedMatching +obo:GARD_20738 Primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 semapv:UnspecifiedMatching +obo:GARD_20739 Diffuse leptomeningeal melanocytosis skos:exactMatch Orphanet:252031 semapv:UnspecifiedMatching +obo:GARD_2074 Edinburgh malformation syndrome skos:exactMatch Orphanet:1895 semapv:UnspecifiedMatching +obo:GARD_2074 Edinburgh malformation syndrome skos:narrowMatch OMIM:129850 semapv:UnspecifiedMatching +obo:GARD_20740 Meningeal melanocytoma skos:exactMatch Orphanet:252046 semapv:UnspecifiedMatching +obo:GARD_20741 Malignant peripheral nerve sheath tumor with perineurial differentiation skos:exactMatch Orphanet:252128 semapv:UnspecifiedMatching +obo:GARD_20742 Inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 semapv:UnspecifiedMatching +obo:GARD_20743 Malignant triton tumor skos:exactMatch Orphanet:252212 semapv:UnspecifiedMatching +obo:GARD_20744 Rare cutaneous lichen planus skos:exactMatch Orphanet:254370 semapv:UnspecifiedMatching +obo:GARD_20745 Rare mucosal lichen planus skos:exactMatch Orphanet:254373 semapv:UnspecifiedMatching +obo:GARD_20746 Inhalational botulism skos:exactMatch Orphanet:254504 semapv:UnspecifiedMatching +obo:GARD_20747 Iatrogenic botulism skos:exactMatch Orphanet:254509 semapv:UnspecifiedMatching +obo:GARD_20748 Gestational trophoblastic disease skos:exactMatch Orphanet:254685 semapv:UnspecifiedMatching +obo:GARD_20749 Partial hydatidiform mole skos:exactMatch Orphanet:254693 semapv:UnspecifiedMatching +obo:GARD_20750 Epithelioid trophoblastic tumor skos:exactMatch Orphanet:254698 semapv:UnspecifiedMatching +obo:GARD_20751 Genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 semapv:UnspecifiedMatching +obo:GARD_20752 Pyruvate metabolism disorder skos:exactMatch Orphanet:254746 semapv:UnspecifiedMatching +obo:GARD_20753 Tricarboxylic acid cycle disorder skos:exactMatch Orphanet:254749 semapv:UnspecifiedMatching +obo:GARD_20754 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 semapv:UnspecifiedMatching +obo:GARD_20755 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 semapv:UnspecifiedMatching +obo:GARD_20756 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 semapv:UnspecifiedMatching +obo:GARD_20757 Mitochondrial DNA-related mitochondrial myopathy skos:exactMatch Orphanet:254788 semapv:UnspecifiedMatching +obo:GARD_20758 Multiple mitochondrial DNA deletion syndrome skos:exactMatch Orphanet:254807 semapv:UnspecifiedMatching +obo:GARD_20759 Ataxia neuropathy spectrum skos:exactMatch Orphanet:254818 semapv:UnspecifiedMatching +obo:GARD_2076 EEC syndrome skos:exactMatch Orphanet:1896 semapv:UnspecifiedMatching +obo:GARD_2076 EEC syndrome skos:narrowMatch OMIM:129900 semapv:UnspecifiedMatching +obo:GARD_2076 EEC syndrome skos:narrowMatch OMIM:604292 semapv:UnspecifiedMatching +obo:GARD_20760 Mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 semapv:UnspecifiedMatching +obo:GARD_20761 Mitochondrial membrane transport disorder skos:exactMatch Orphanet:254827 semapv:UnspecifiedMatching +obo:GARD_20762 Mitochondrial substrate carrier disorder skos:exactMatch Orphanet:254830 semapv:UnspecifiedMatching +obo:GARD_20763 Mitochondrial protein import disorder skos:exactMatch Orphanet:254834 semapv:UnspecifiedMatching +obo:GARD_20764 Unspecified mitochondrial disorder skos:exactMatch Orphanet:254837 semapv:UnspecifiedMatching +obo:GARD_20765 Exercise intolerance with lactic acidosis skos:exactMatch Orphanet:254843 semapv:UnspecifiedMatching +obo:GARD_20766 Isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 semapv:UnspecifiedMatching +obo:GARD_20767 Mitochondrial DNA-related dystonia skos:exactMatch Orphanet:254851 semapv:UnspecifiedMatching +obo:GARD_20768 Pure mitochondrial myopathy skos:exactMatch Orphanet:254854 semapv:UnspecifiedMatching +obo:GARD_20769 Mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch Orphanet:254871 semapv:UnspecifiedMatching +obo:GARD_20770 Distal 7q11.23 microduplication syndrome skos:exactMatch Orphanet:261102 semapv:UnspecifiedMatching +obo:GARD_20771 FOXG1 syndrome due to 14q12 microdeletion skos:exactMatch Orphanet:261144 semapv:UnspecifiedMatching +obo:GARD_20772 16p11.2p12.2 microduplication syndrome skos:exactMatch Orphanet:261204 semapv:UnspecifiedMatching +obo:GARD_20773 14q11.2 microduplication syndrome skos:exactMatch Orphanet:261229 semapv:UnspecifiedMatching +obo:GARD_20774 16p13.11 microdeletion syndrome skos:exactMatch Orphanet:261236 semapv:UnspecifiedMatching +obo:GARD_20775 16p13.11 microduplication syndrome skos:exactMatch Orphanet:261243 semapv:UnspecifiedMatching +obo:GARD_20776 Distal 17p13.3 microdeletion syndrome skos:exactMatch Orphanet:261257 semapv:UnspecifiedMatching +obo:GARD_20777 Paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch Orphanet:261304 semapv:UnspecifiedMatching +obo:GARD_20778 20q13.33 microdeletion syndrome skos:exactMatch Orphanet:261311 semapv:UnspecifiedMatching +obo:GARD_20779 21q22.11q22.12 microdeletion syndrome skos:exactMatch Orphanet:261323 semapv:UnspecifiedMatching +obo:GARD_2078 EEM syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching +obo:GARD_2078 EEM syndrome skos:narrowMatch OMIM:225280 semapv:UnspecifiedMatching +obo:GARD_20780 Distal 22q11.2 microduplication syndrome skos:exactMatch Orphanet:261337 semapv:UnspecifiedMatching +obo:GARD_20781 Trisomy 1q skos:exactMatch Orphanet:261344 semapv:UnspecifiedMatching +obo:GARD_20782 Atypical Norrie disease due to Xp11.3 microdeletion skos:exactMatch Orphanet:261501 semapv:UnspecifiedMatching +obo:GARD_20783 Maternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261519 semapv:UnspecifiedMatching +obo:GARD_20784 Paternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261524 semapv:UnspecifiedMatching +obo:GARD_20785 Ring chromosome Y syndrome skos:exactMatch Orphanet:261529 semapv:UnspecifiedMatching +obo:GARD_20786 Familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch Orphanet:261584 semapv:UnspecifiedMatching +obo:GARD_20787 Okihiro syndrome due to 20q13 microdeletion skos:exactMatch Orphanet:261638 semapv:UnspecifiedMatching +obo:GARD_20788 Okihiro syndrome due to a point mutation skos:exactMatch Orphanet:261647 semapv:UnspecifiedMatching +obo:GARD_20789 Partial deletion of chromosome 1 skos:exactMatch Orphanet:261766 semapv:UnspecifiedMatching +obo:GARD_20790 Partial deletion of chromosome 2 skos:exactMatch Orphanet:261771 semapv:UnspecifiedMatching +obo:GARD_20791 Partial deletion of chromosome 3 skos:exactMatch Orphanet:261776 semapv:UnspecifiedMatching +obo:GARD_20792 Partial deletion of chromosome 4 skos:exactMatch Orphanet:261781 semapv:UnspecifiedMatching +obo:GARD_20793 Partial deletion of chromosome 5 skos:exactMatch Orphanet:261786 semapv:UnspecifiedMatching +obo:GARD_20794 Partial deletion of chromosome 6 skos:exactMatch Orphanet:261791 semapv:UnspecifiedMatching +obo:GARD_20795 Partial deletion of chromosome 7 skos:exactMatch Orphanet:261796 semapv:UnspecifiedMatching +obo:GARD_20796 Partial deletion of chromosome 8 skos:exactMatch Orphanet:261801 semapv:UnspecifiedMatching +obo:GARD_20797 Partial deletion of chromosome 9 skos:exactMatch Orphanet:261806 semapv:UnspecifiedMatching +obo:GARD_20798 Partial deletion of chromosome 10 skos:exactMatch Orphanet:261811 semapv:UnspecifiedMatching +obo:GARD_20799 Partial deletion of chromosome 11 skos:exactMatch Orphanet:261816 semapv:UnspecifiedMatching +obo:GARD_20800 Partial deletion of the long arm of chromosome 12 skos:exactMatch Orphanet:261821 semapv:UnspecifiedMatching +obo:GARD_20801 Partial deletion of chromosome 16 skos:exactMatch Orphanet:261826 semapv:UnspecifiedMatching +obo:GARD_20802 Partial deletion of chromosome 17 skos:exactMatch Orphanet:261831 semapv:UnspecifiedMatching +obo:GARD_20803 Partial deletion of chromosome 18 skos:exactMatch Orphanet:261836 semapv:UnspecifiedMatching +obo:GARD_20804 Partial deletion of chromosome 19 skos:exactMatch Orphanet:261841 semapv:UnspecifiedMatching +obo:GARD_20805 Partial deletion of chromosome 20 skos:exactMatch Orphanet:261846 semapv:UnspecifiedMatching +obo:GARD_20806 Partial deletion of the short arm of chromosome 1 skos:exactMatch Orphanet:261857 semapv:UnspecifiedMatching +obo:GARD_20807 Partial deletion of the short arm of chromosome 2 skos:exactMatch Orphanet:261866 semapv:UnspecifiedMatching +obo:GARD_20808 Partial deletion of the short arm of chromosome 4 skos:exactMatch Orphanet:261884 semapv:UnspecifiedMatching +obo:GARD_20809 Partial deletion of the short arm of chromosome 5 skos:exactMatch Orphanet:261893 semapv:UnspecifiedMatching +obo:GARD_2081 Hypermobile Ehlers-Danlos syndrome skos:exactMatch Orphanet:285 semapv:UnspecifiedMatching +obo:GARD_2081 Hypermobile Ehlers-Danlos syndrome skos:narrowMatch OMIM:130020 semapv:UnspecifiedMatching +obo:GARD_20810 Partial deletion of the short arm of chromosome 6 skos:exactMatch Orphanet:261902 semapv:UnspecifiedMatching +obo:GARD_20811 Partial deletion of the short arm of chromosome 7 skos:exactMatch Orphanet:261911 semapv:UnspecifiedMatching +obo:GARD_20812 Partial deletion of the short arm of chromosome 8 skos:exactMatch Orphanet:261920 semapv:UnspecifiedMatching +obo:GARD_20813 Partial deletion of the short arm of chromosome 9 skos:exactMatch Orphanet:261929 semapv:UnspecifiedMatching +obo:GARD_20814 Partial deletion of the short arm of chromosome 10 skos:exactMatch Orphanet:261938 semapv:UnspecifiedMatching +obo:GARD_20815 Partial deletion of the short arm of chromosome 11 skos:exactMatch Orphanet:261947 semapv:UnspecifiedMatching +obo:GARD_20816 Partial deletion of the short arm of chromosome 16 skos:exactMatch Orphanet:261956 semapv:UnspecifiedMatching +obo:GARD_20817 Partial monosomy of the short arm of chromosome 17 skos:exactMatch Orphanet:261965 semapv:UnspecifiedMatching +obo:GARD_20818 Partial deletion of the short arm of chromosome 18 skos:exactMatch Orphanet:261974 semapv:UnspecifiedMatching +obo:GARD_20819 Partial deletion of the short arm of chromosome 19 skos:exactMatch Orphanet:261983 semapv:UnspecifiedMatching +obo:GARD_2082 Vascular Ehlers-Danlos syndrome skos:exactMatch Orphanet:286 semapv:UnspecifiedMatching +obo:GARD_2082 Vascular Ehlers-Danlos syndrome skos:narrowMatch OMIM:130050 semapv:UnspecifiedMatching +obo:GARD_20820 Partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 semapv:UnspecifiedMatching +obo:GARD_20821 Partial deletion of the long arm of chromosome 1 skos:exactMatch Orphanet:262001 semapv:UnspecifiedMatching +obo:GARD_20822 Partial deletion of the long arm of chromosome 2 skos:exactMatch Orphanet:262010 semapv:UnspecifiedMatching +obo:GARD_20823 Partial deletion of the long arm of chromosome 3 skos:exactMatch Orphanet:262019 semapv:UnspecifiedMatching +obo:GARD_20824 Partial deletion of the long arm of chromosome 4 skos:exactMatch Orphanet:262029 semapv:UnspecifiedMatching +obo:GARD_20825 Partial deletion of the long arm of chromosome 5 skos:exactMatch Orphanet:262038 semapv:UnspecifiedMatching +obo:GARD_20826 Partial deletion of the long arm of chromosome 6 skos:exactMatch Orphanet:262047 semapv:UnspecifiedMatching +obo:GARD_20827 Partial deletion of the long arm of chromosome 7 skos:exactMatch Orphanet:262056 semapv:UnspecifiedMatching +obo:GARD_20828 Partial deletion of the long arm of chromosome 8 skos:exactMatch Orphanet:262065 semapv:UnspecifiedMatching +obo:GARD_20829 Partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 semapv:UnspecifiedMatching +obo:GARD_2083 Kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536545 semapv:UnspecifiedMatching +obo:GARD_20830 Partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 semapv:UnspecifiedMatching +obo:GARD_20831 Partial deletion of the long arm of chromosome 11 skos:exactMatch Orphanet:262092 semapv:UnspecifiedMatching +obo:GARD_20832 Partial deletion of the long arm of chromosome 13 skos:exactMatch Orphanet:262101 semapv:UnspecifiedMatching +obo:GARD_20833 Partial deletion of the long arm of chromosome 14 skos:exactMatch Orphanet:262110 semapv:UnspecifiedMatching +obo:GARD_20834 Partial deletion of the long arm of chromosome 15 skos:exactMatch Orphanet:262119 semapv:UnspecifiedMatching +obo:GARD_20835 Partial deletion of the long arm of chromosome 16 skos:exactMatch Orphanet:262128 semapv:UnspecifiedMatching +obo:GARD_20836 Partial deletion of the long arm of chromosome 17 skos:exactMatch Orphanet:262137 semapv:UnspecifiedMatching +obo:GARD_20837 Partial deletion of the long arm of chromosome 18 skos:exactMatch Orphanet:262146 semapv:UnspecifiedMatching +obo:GARD_20838 Partial deletion of the long arm of chromosome 19 skos:exactMatch Orphanet:262155 semapv:UnspecifiedMatching +obo:GARD_20839 Partial deletion of the long arm of chromosome 20 skos:exactMatch Orphanet:262164 semapv:UnspecifiedMatching +obo:GARD_2084 Arthrochalasia Ehlers-Danlos syndrome skos:exactMatch Orphanet:1899 semapv:UnspecifiedMatching +obo:GARD_2084 Arthrochalasia Ehlers-Danlos syndrome skos:narrowMatch OMIM:130060 semapv:UnspecifiedMatching +obo:GARD_2084 Arthrochalasia Ehlers-Danlos syndrome skos:narrowMatch OMIM:617821 semapv:UnspecifiedMatching +obo:GARD_20840 Partial deletion of the long arm of chromosome 21 skos:exactMatch Orphanet:262173 semapv:UnspecifiedMatching +obo:GARD_20841 Partial deletion of the long arm of chromosome 22 skos:exactMatch Orphanet:262182 semapv:UnspecifiedMatching +obo:GARD_20842 Partial duplication of chromosome 1 skos:exactMatch Orphanet:262191 semapv:UnspecifiedMatching +obo:GARD_20843 Partial duplication of chromosome 2 skos:exactMatch Orphanet:262196 semapv:UnspecifiedMatching +obo:GARD_20844 Partial duplication of chromosome 3 skos:exactMatch Orphanet:262201 semapv:UnspecifiedMatching +obo:GARD_20845 Partial duplication of chromosome 4 skos:exactMatch Orphanet:262206 semapv:UnspecifiedMatching +obo:GARD_20846 Partial trisomy/tetrasomy of chromosome 5 skos:exactMatch Orphanet:262211 semapv:UnspecifiedMatching +obo:GARD_20847 Partial duplication of chromosome 6 skos:exactMatch Orphanet:262628 semapv:UnspecifiedMatching +obo:GARD_20848 Partial duplication of chromosome 7 skos:exactMatch Orphanet:262633 semapv:UnspecifiedMatching +obo:GARD_20849 Partial duplication of chromosome 8 skos:exactMatch Orphanet:262638 semapv:UnspecifiedMatching +obo:GARD_20850 Partial trisomy/tetrasomy of chromosome 9 skos:exactMatch Orphanet:262643 semapv:UnspecifiedMatching +obo:GARD_20851 Partial duplication of chromosome 10 skos:exactMatch Orphanet:262648 semapv:UnspecifiedMatching +obo:GARD_20852 Partial duplication of chromosome 11 skos:exactMatch Orphanet:262653 semapv:UnspecifiedMatching +obo:GARD_20853 Partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 semapv:UnspecifiedMatching +obo:GARD_20854 Partial duplication of chromosome 16 skos:exactMatch Orphanet:262672 semapv:UnspecifiedMatching +obo:GARD_20855 Partial duplication of chromosome 17 skos:exactMatch Orphanet:262677 semapv:UnspecifiedMatching +obo:GARD_20856 Partial trisomy/tetrasomy of chromosome 18 skos:exactMatch Orphanet:262682 semapv:UnspecifiedMatching +obo:GARD_20857 Partial duplication of chromosome 19 skos:exactMatch Orphanet:262687 semapv:UnspecifiedMatching +obo:GARD_20858 Partial trisomy of chromosome 20 skos:exactMatch Orphanet:262692 semapv:UnspecifiedMatching +obo:GARD_20859 Partial duplication of the short arm of chromosome 2 skos:exactMatch Orphanet:262698 semapv:UnspecifiedMatching +obo:GARD_20860 Partial duplication of the short arm of chromosome 3 skos:exactMatch Orphanet:262707 semapv:UnspecifiedMatching +obo:GARD_20861 Partial duplication of the short arm of chromosome 4 skos:exactMatch Orphanet:262716 semapv:UnspecifiedMatching +obo:GARD_20862 Partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 semapv:UnspecifiedMatching +obo:GARD_20863 Partial duplication of the short arm of chromosome 6 skos:exactMatch Orphanet:262740 semapv:UnspecifiedMatching +obo:GARD_20864 Partial duplication of the short arm of chromosome 7 skos:exactMatch Orphanet:262749 semapv:UnspecifiedMatching +obo:GARD_20865 Partial duplication of the short arm of chromosome 8 skos:exactMatch Orphanet:262758 semapv:UnspecifiedMatching +obo:GARD_20866 Partial trisomy/tetrasomy of the short arm of chromosome 9 skos:exactMatch Orphanet:262767 semapv:UnspecifiedMatching +obo:GARD_20867 Partial duplication of the short arm of chromosome 10 skos:exactMatch Orphanet:262776 semapv:UnspecifiedMatching +obo:GARD_20868 Partial duplication of the short arm of chromosome 11 skos:exactMatch Orphanet:262785 semapv:UnspecifiedMatching +obo:GARD_20869 Partial duplication of the short arm of chromosome 16 skos:exactMatch Orphanet:262794 semapv:UnspecifiedMatching +obo:GARD_20870 Partial duplication of the short arm of chromosome 17 skos:exactMatch Orphanet:262803 semapv:UnspecifiedMatching +obo:GARD_20871 Partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 semapv:UnspecifiedMatching +obo:GARD_20872 Partial duplication of the long arm of chromosome 1 skos:exactMatch Orphanet:262833 semapv:UnspecifiedMatching +obo:GARD_20873 Partial duplication of the long arm of chromosome 2 skos:exactMatch Orphanet:262842 semapv:UnspecifiedMatching +obo:GARD_20874 Partial duplication of the long arm of chromosome 3 skos:exactMatch Orphanet:262851 semapv:UnspecifiedMatching +obo:GARD_20875 Partial duplication of the long arm of chromosome 4 skos:exactMatch Orphanet:262860 semapv:UnspecifiedMatching +obo:GARD_20876 Partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 semapv:UnspecifiedMatching +obo:GARD_20877 Partial duplication of the long arm of chromosome 6 skos:exactMatch Orphanet:262878 semapv:UnspecifiedMatching +obo:GARD_20878 Partial duplication of the long arm of chromosome 7 skos:exactMatch Orphanet:262887 semapv:UnspecifiedMatching +obo:GARD_20879 Partial duplication of the long arm of chromosome 8 skos:exactMatch Orphanet:262896 semapv:UnspecifiedMatching +obo:GARD_2088 Classical Ehlers-Danlos syndrome skos:exactMatch Orphanet:287 semapv:UnspecifiedMatching +obo:GARD_2088 Classical Ehlers-Danlos syndrome skos:narrowMatch OMIM:130000 semapv:UnspecifiedMatching +obo:GARD_2088 Classical Ehlers-Danlos syndrome skos:narrowMatch OMIM:130010 semapv:UnspecifiedMatching +obo:GARD_20880 Partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 semapv:UnspecifiedMatching +obo:GARD_20881 Partial duplication of the long arm of chromosome 10 skos:exactMatch Orphanet:262914 semapv:UnspecifiedMatching +obo:GARD_20882 Partial duplication of the long arm of chromosome 11 skos:exactMatch Orphanet:262923 semapv:UnspecifiedMatching +obo:GARD_20883 Partial duplication of the long arm of chromosome 13 skos:exactMatch Orphanet:262932 semapv:UnspecifiedMatching +obo:GARD_20884 Partial duplication of the long arm of chromosome 14 skos:exactMatch Orphanet:262941 semapv:UnspecifiedMatching +obo:GARD_20885 Partial duplication of the long arm of chromosome 15 skos:exactMatch Orphanet:262950 semapv:UnspecifiedMatching +obo:GARD_20886 Partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 semapv:UnspecifiedMatching +obo:GARD_20887 Partial duplication of the long arm of chromosome 17 skos:exactMatch Orphanet:262968 semapv:UnspecifiedMatching +obo:GARD_20888 Partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 semapv:UnspecifiedMatching +obo:GARD_20889 Partial duplication of the long arm of chromosome 19 skos:exactMatch Orphanet:262986 semapv:UnspecifiedMatching +obo:GARD_2089 Dermatosparaxis Ehlers-Danlos syndrome skos:exactMatch Orphanet:1901 semapv:UnspecifiedMatching +obo:GARD_2089 Dermatosparaxis Ehlers-Danlos syndrome skos:narrowMatch OMIM:225410 semapv:UnspecifiedMatching +obo:GARD_20890 Partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 semapv:UnspecifiedMatching +obo:GARD_20891 Partial duplication of the long arm of chromosome 22 skos:exactMatch Orphanet:263004 semapv:UnspecifiedMatching +obo:GARD_20892 Thymoma type A skos:exactMatch Orphanet:263310 semapv:UnspecifiedMatching +obo:GARD_20893 Thymoma type B skos:exactMatch Orphanet:263317 semapv:UnspecifiedMatching +obo:GARD_20894 Thymoma type AB skos:exactMatch Orphanet:263324 semapv:UnspecifiedMatching +obo:GARD_20895 Well-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263331 semapv:UnspecifiedMatching +obo:GARD_20896 Moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263335 semapv:UnspecifiedMatching +obo:GARD_20897 Poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263339 semapv:UnspecifiedMatching +obo:GARD_20898 Postcardiotomy right ventricular failure skos:exactMatch Orphanet:263352 semapv:UnspecifiedMatching +obo:GARD_20899 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:exactMatch Orphanet:263410 semapv:UnspecifiedMatching +obo:GARD_20900 Angiosarcoma skos:exactMatch Orphanet:263413 semapv:UnspecifiedMatching +obo:GARD_20901 Nevus of Ota skos:exactMatch Orphanet:263425 semapv:UnspecifiedMatching +obo:GARD_20902 Congenital smooth muscle hamartoma skos:exactMatch Orphanet:263435 semapv:UnspecifiedMatching +obo:GARD_20903 Hyperinsulinism due to HNF4A deficiency skos:exactMatch Orphanet:263455 semapv:UnspecifiedMatching +obo:GARD_20904 Peeling skin syndrome type C skos:exactMatch Orphanet:263558 semapv:UnspecifiedMatching +obo:GARD_20905 NK-cell enteropathy skos:exactMatch Orphanet:263665 semapv:UnspecifiedMatching +obo:GARD_20906 Complex chromosomal rearrangement skos:exactMatch Orphanet:263708 semapv:UnspecifiedMatching +obo:GARD_20907 X chromosome number anomaly skos:exactMatch Orphanet:263714 semapv:UnspecifiedMatching +obo:GARD_20908 X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 semapv:UnspecifiedMatching +obo:GARD_20909 X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 semapv:UnspecifiedMatching +obo:GARD_20910 Polysomy of X chromosome skos:exactMatch Orphanet:263723 semapv:UnspecifiedMatching +obo:GARD_20911 Partial deletion of chromosome X skos:exactMatch Orphanet:263726 semapv:UnspecifiedMatching +obo:GARD_20912 Partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 semapv:UnspecifiedMatching +obo:GARD_20913 Y chromosome number anomaly skos:exactMatch Orphanet:263746 semapv:UnspecifiedMatching +obo:GARD_20914 X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 semapv:UnspecifiedMatching +obo:GARD_20915 Partial deletion of the long arm of chromosome X skos:exactMatch Orphanet:263756 semapv:UnspecifiedMatching +obo:GARD_20916 Partial duplication of chromosome X skos:exactMatch Orphanet:263768 semapv:UnspecifiedMatching +obo:GARD_20917 Partial duplication of the long arm of chromosome X skos:exactMatch Orphanet:263783 semapv:UnspecifiedMatching +obo:GARD_20918 Uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 semapv:UnspecifiedMatching +obo:GARD_20919 Partial duplication of the short arm of chromosome 1 skos:exactMatch Orphanet:264431 semapv:UnspecifiedMatching +obo:GARD_2092 Ehrlichiosis skos:exactMatch Orphanet:1902 semapv:UnspecifiedMatching +obo:GARD_20920 Trisomy 8p skos:exactMatch Orphanet:264450 semapv:UnspecifiedMatching +obo:GARD_20921 Interstitial lung disease specific to childhood skos:exactMatch Orphanet:264656 semapv:UnspecifiedMatching +obo:GARD_20922 Primary interstitial lung disease specific to childhood due to alveolar structure disorder skos:exactMatch Orphanet:264670 semapv:UnspecifiedMatching +obo:GARD_20923 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder skos:exactMatch Orphanet:264683 semapv:UnspecifiedMatching +obo:GARD_20924 Isolated pulmonary capillaritis skos:exactMatch Orphanet:264691 semapv:UnspecifiedMatching +obo:GARD_20925 Interstitial lung disease specific to infancy skos:exactMatch Orphanet:264694 semapv:UnspecifiedMatching +obo:GARD_20926 Secondary interstitial lung disease specific to childhood associated with a systemic disease skos:exactMatch Orphanet:264699 semapv:UnspecifiedMatching +obo:GARD_20927 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease skos:exactMatch Orphanet:264704 semapv:UnspecifiedMatching +obo:GARD_20928 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis skos:exactMatch Orphanet:264709 semapv:UnspecifiedMatching +obo:GARD_20929 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease skos:exactMatch Orphanet:264714 semapv:UnspecifiedMatching +obo:GARD_20930 Secondary interstitial lung disease specific to childhood associated with a metabolic disease skos:exactMatch Orphanet:264719 semapv:UnspecifiedMatching +obo:GARD_20931 Interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264735 semapv:UnspecifiedMatching +obo:GARD_20932 Primary interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264740 semapv:UnspecifiedMatching +obo:GARD_20933 Secondary interstitial lung disease specific to adulthood associated with a systemic disease skos:exactMatch Orphanet:264745 semapv:UnspecifiedMatching +obo:GARD_20934 Interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264757 semapv:UnspecifiedMatching +obo:GARD_20935 Primary interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264762 semapv:UnspecifiedMatching +obo:GARD_20936 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder skos:exactMatch Orphanet:264930 semapv:UnspecifiedMatching +obo:GARD_20937 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder skos:exactMatch Orphanet:264935 semapv:UnspecifiedMatching +obo:GARD_20938 Secondary interstitial lung disease in childhood and adulthood skos:exactMatch Orphanet:264944 semapv:UnspecifiedMatching +obo:GARD_20939 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease skos:exactMatch Orphanet:264949 semapv:UnspecifiedMatching +obo:GARD_20940 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease skos:exactMatch Orphanet:264968 semapv:UnspecifiedMatching +obo:GARD_20941 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis skos:exactMatch Orphanet:264973 semapv:UnspecifiedMatching +obo:GARD_20942 Drug or radiation exposure-related interstitial lung disease skos:exactMatch Orphanet:264978 semapv:UnspecifiedMatching +obo:GARD_20943 Exposure-related interstitial lung disease skos:exactMatch Orphanet:264984 semapv:UnspecifiedMatching +obo:GARD_20944 Genetic interstitial lung disease skos:exactMatch Orphanet:264992 semapv:UnspecifiedMatching +obo:GARD_20945 Intraocular medulloepithelioma skos:exactMatch Orphanet:268139 semapv:UnspecifiedMatching +obo:GARD_20946 Mycophenolate mofetil embryopathy skos:exactMatch Orphanet:268249 semapv:UnspecifiedMatching +obo:GARD_20947 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:exactMatch Orphanet:268261 semapv:UnspecifiedMatching +obo:GARD_20948 Complication in hemodialysis skos:exactMatch Orphanet:268316 semapv:UnspecifiedMatching +obo:GARD_20949 Open iniencephaly skos:exactMatch Orphanet:268363 semapv:UnspecifiedMatching +obo:GARD_20950 Closed iniencephaly skos:exactMatch Orphanet:268366 semapv:UnspecifiedMatching +obo:GARD_20951 Spina bifida aperta skos:exactMatch Orphanet:268369 semapv:UnspecifiedMatching +obo:GARD_20952 Total spina bifida aperta skos:exactMatch Orphanet:268377 semapv:UnspecifiedMatching +obo:GARD_20953 Thoracolumbosacral spina bifida aperta skos:exactMatch Orphanet:268384 semapv:UnspecifiedMatching +obo:GARD_20954 Lumbosacral spina bifida aperta skos:exactMatch Orphanet:268388 semapv:UnspecifiedMatching +obo:GARD_20955 Cervical spina bifida aperta skos:exactMatch Orphanet:268392 semapv:UnspecifiedMatching +obo:GARD_20956 Cervicothoracic spina bifida aperta skos:exactMatch Orphanet:268397 semapv:UnspecifiedMatching +obo:GARD_20957 Upper thoracic spina bifida aperta skos:exactMatch Orphanet:268740 semapv:UnspecifiedMatching +obo:GARD_20958 Spina bifida cystica skos:exactMatch Orphanet:268744 semapv:UnspecifiedMatching +obo:GARD_20959 Total spina bifida cystica skos:exactMatch Orphanet:268748 semapv:UnspecifiedMatching +obo:GARD_2096 Acrocephalopolydactyly skos:exactMatch Orphanet:221054 semapv:UnspecifiedMatching +obo:GARD_2096 Acrocephalopolydactyly skos:narrowMatch OMIM:200995 semapv:UnspecifiedMatching +obo:GARD_20960 Thoracolumbosacral spina bifida cystica skos:exactMatch Orphanet:268752 semapv:UnspecifiedMatching +obo:GARD_20961 Lumbosacral spina bifida cystica skos:exactMatch Orphanet:268758 semapv:UnspecifiedMatching +obo:GARD_20962 Cervical spina bifida cystica skos:exactMatch Orphanet:268762 semapv:UnspecifiedMatching +obo:GARD_20963 Cervicothoracic spina bifida cystica skos:exactMatch Orphanet:268766 semapv:UnspecifiedMatching +obo:GARD_20964 Upper thoracic spina bifida cystica skos:exactMatch Orphanet:268770 semapv:UnspecifiedMatching +obo:GARD_20965 Posterior meningocele skos:exactMatch Orphanet:268810 semapv:UnspecifiedMatching +obo:GARD_20966 Myelocystocele skos:exactMatch Orphanet:268813 semapv:UnspecifiedMatching +obo:GARD_20967 Cephalocele skos:exactMatch Orphanet:268817 semapv:UnspecifiedMatching +obo:GARD_20968 Cranial meningocele skos:exactMatch Orphanet:268820 semapv:UnspecifiedMatching +obo:GARD_20969 Occipital encephalocele skos:exactMatch Orphanet:268823 semapv:UnspecifiedMatching +obo:GARD_20970 Parietal encephalocele skos:exactMatch Orphanet:268826 semapv:UnspecifiedMatching +obo:GARD_20971 Basal encephalocele skos:exactMatch Orphanet:268829 semapv:UnspecifiedMatching +obo:GARD_20972 Lipoma associated with neurospinal dysraphism skos:exactMatch Orphanet:268832 semapv:UnspecifiedMatching +obo:GARD_20973 Leptomyelolipoma skos:exactMatch Orphanet:268838 semapv:UnspecifiedMatching +obo:GARD_20974 Malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 semapv:UnspecifiedMatching +obo:GARD_20975 Neurenteric cyst skos:exactMatch Orphanet:268865 semapv:UnspecifiedMatching +obo:GARD_20976 Isolated amyelia skos:exactMatch Orphanet:268868 semapv:UnspecifiedMatching +obo:GARD_20977 Isolated megalencephaly skos:exactMatch Orphanet:268920 semapv:UnspecifiedMatching +obo:GARD_20978 Midline cerebral malformation skos:exactMatch Orphanet:268926 semapv:UnspecifiedMatching +obo:GARD_20979 Isolated arhinencephaly skos:exactMatch Orphanet:268936 semapv:UnspecifiedMatching +obo:GARD_2098 Microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch Orphanet:2516 semapv:UnspecifiedMatching +obo:GARD_2098 Microcephaly-cardiac defect-lung malsegmentation syndrome skos:narrowMatch OMIM:601355 semapv:UnspecifiedMatching +obo:GARD_20980 Unilateral polymicrogyria skos:exactMatch Orphanet:268943 semapv:UnspecifiedMatching +obo:GARD_20981 Unilateral focal polymicrogyria skos:exactMatch Orphanet:268947 semapv:UnspecifiedMatching +obo:GARD_20982 Cerebral cortical dysplasia skos:exactMatch Orphanet:268950 semapv:UnspecifiedMatching +obo:GARD_20983 Isolated focal cortical dysplasia type I skos:exactMatch Orphanet:268961 semapv:UnspecifiedMatching +obo:GARD_20984 Isolated focal cortical dysplasia type Ia skos:exactMatch Orphanet:268973 semapv:UnspecifiedMatching +obo:GARD_20985 Isolated focal cortical dysplasia type Ib skos:exactMatch Orphanet:268980 semapv:UnspecifiedMatching +obo:GARD_20986 Isolated focal cortical dysplasia type Ic skos:exactMatch Orphanet:268987 semapv:UnspecifiedMatching +obo:GARD_20987 Encephaloclastic disorder skos:exactMatch Orphanet:269190 semapv:UnspecifiedMatching +obo:GARD_20988 Central nervous system cystic malformation skos:exactMatch Orphanet:269194 semapv:UnspecifiedMatching +obo:GARD_20989 Glioependymal/ependymal cyst skos:exactMatch Orphanet:269197 semapv:UnspecifiedMatching +obo:GARD_20990 Isolated cerebellar vermis agenesis skos:exactMatch Orphanet:269203 semapv:UnspecifiedMatching +obo:GARD_20991 Isolated total cerebellar vermis agenesis skos:exactMatch Orphanet:269206 semapv:UnspecifiedMatching +obo:GARD_20992 Isolated partial cerebellar vermis agenesis skos:exactMatch Orphanet:269209 semapv:UnspecifiedMatching +obo:GARD_20993 Isolated Dandy-Walker malformation with hydrocephalus skos:exactMatch Orphanet:269212 semapv:UnspecifiedMatching +obo:GARD_20994 Isolated Dandy-Walker malformation without hydrocephalus skos:exactMatch Orphanet:269215 semapv:UnspecifiedMatching +obo:GARD_20995 Isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269218 semapv:UnspecifiedMatching +obo:GARD_20996 Isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269221 semapv:UnspecifiedMatching +obo:GARD_20997 Global cerebellar malformation skos:exactMatch Orphanet:269224 semapv:UnspecifiedMatching +obo:GARD_20998 Congenital communicating hydrocephalus skos:exactMatch Orphanet:269505 semapv:UnspecifiedMatching +obo:GARD_20999 Syndrome with a cerebellar malformation as a major feature skos:exactMatch Orphanet:269523 semapv:UnspecifiedMatching +obo:GARD_21000 Syndrome with microcephaly as a major feature skos:exactMatch Orphanet:269528 semapv:UnspecifiedMatching +obo:GARD_21001 Other syndrome with a central nervous system malformation as a major feature skos:exactMatch Orphanet:269531 semapv:UnspecifiedMatching +obo:GARD_21002 Syndrome with a Dandy-Walker malformation as a major feature skos:exactMatch Orphanet:269546 semapv:UnspecifiedMatching +obo:GARD_21003 Genetic non-syndromic central nervous system malformation skos:exactMatch Orphanet:269550 semapv:UnspecifiedMatching +obo:GARD_21004 Genetic cerebral malformation skos:exactMatch Orphanet:269553 semapv:UnspecifiedMatching +obo:GARD_21005 Genetic posterior fossa malformation skos:exactMatch Orphanet:269557 semapv:UnspecifiedMatching +obo:GARD_21006 Genetic cerebellar malformation skos:exactMatch Orphanet:269560 semapv:UnspecifiedMatching +obo:GARD_21007 Genetic syndrome with a central nervous system malformation as a major feature skos:exactMatch Orphanet:269564 semapv:UnspecifiedMatching +obo:GARD_21008 Genetic syndrome with a cerebellar malformation as a major feature skos:exactMatch Orphanet:269567 semapv:UnspecifiedMatching +obo:GARD_21009 Genetic syndrome with a Dandy-Walker malformation as a major feature skos:exactMatch Orphanet:269570 semapv:UnspecifiedMatching +obo:GARD_21010 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 semapv:UnspecifiedMatching +obo:GARD_21011 Genetic soft tissue tumor skos:exactMatch Orphanet:271832 semapv:UnspecifiedMatching +obo:GARD_21012 Genetic digestive tract tumor skos:exactMatch Orphanet:271835 semapv:UnspecifiedMatching +obo:GARD_21013 Genetic cardiac tumor skos:exactMatch Orphanet:271841 semapv:UnspecifiedMatching +obo:GARD_21014 Genetic urogenital tumor skos:exactMatch Orphanet:271844 semapv:UnspecifiedMatching +obo:GARD_21015 Genetic neuroendocrine tumor skos:exactMatch Orphanet:271847 semapv:UnspecifiedMatching +obo:GARD_21016 Genetic cardiac anomaly skos:exactMatch Orphanet:271853 semapv:UnspecifiedMatching +obo:GARD_21017 Hereditary ATTR amyloidosis skos:exactMatch Orphanet:271861 semapv:UnspecifiedMatching +obo:GARD_21018 Rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 semapv:UnspecifiedMatching +obo:GARD_21019 Rare hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 semapv:UnspecifiedMatching +obo:GARD_2102 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98863 semapv:UnspecifiedMatching +obo:GARD_2102 X-linked Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:300696 semapv:UnspecifiedMatching +obo:GARD_2102 X-linked Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:310300 semapv:UnspecifiedMatching +obo:GARD_21020 Rare hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 semapv:UnspecifiedMatching +obo:GARD_21021 Genetic infertility skos:exactMatch Orphanet:275742 semapv:UnspecifiedMatching +obo:GARD_21022 Alpha-thalassemia and related disorders skos:exactMatch Orphanet:275745 semapv:UnspecifiedMatching +obo:GARD_21023 Beta-thalassemia and related diseases skos:exactMatch Orphanet:275749 semapv:UnspecifiedMatching +obo:GARD_21024 Sickle cell disease and related diseases skos:exactMatch Orphanet:275752 semapv:UnspecifiedMatching +obo:GARD_21025 Idiopathic pulmonary arterial hypertension skos:exactMatch Orphanet:275766 semapv:UnspecifiedMatching +obo:GARD_21026 Drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch Orphanet:275786 semapv:UnspecifiedMatching +obo:GARD_21027 Pulmonary arterial hypertension associated with another disease skos:exactMatch Orphanet:275791 semapv:UnspecifiedMatching +obo:GARD_21028 Pulmonary arterial hypertension associated with connective tissue disease skos:exactMatch Orphanet:275798 semapv:UnspecifiedMatching +obo:GARD_21029 Pulmonary arterial hypertension associated with congenital heart disease skos:exactMatch Orphanet:275803 semapv:UnspecifiedMatching +obo:GARD_21030 Pulmonary arterial hypertension associated with HIV infection skos:exactMatch Orphanet:275808 semapv:UnspecifiedMatching +obo:GARD_21031 Pulmonary arterial hypertension associated with portal hypertension skos:exactMatch Orphanet:275813 semapv:UnspecifiedMatching +obo:GARD_21032 Pulmonary arterial hypertension associated with schistosomiasis skos:exactMatch Orphanet:275823 semapv:UnspecifiedMatching +obo:GARD_21033 Pulmonary arterial hypertension associated with chronic hemolytic anemia skos:exactMatch Orphanet:275828 semapv:UnspecifiedMatching +obo:GARD_21034 Pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch Orphanet:275837 semapv:UnspecifiedMatching +obo:GARD_21035 Pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 semapv:UnspecifiedMatching +obo:GARD_21036 Syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 semapv:UnspecifiedMatching +obo:GARD_21037 Hemolytic disease due to fetomaternal alloimmunization skos:exactMatch Orphanet:275938 semapv:UnspecifiedMatching +obo:GARD_21038 Hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch Orphanet:275944 semapv:UnspecifiedMatching +obo:GARD_21039 Genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 semapv:UnspecifiedMatching +obo:GARD_2104 Congenital lobar emphysema skos:exactMatch Orphanet:1928 semapv:UnspecifiedMatching +obo:GARD_2104 Congenital lobar emphysema skos:narrowMatch OMIM:130710 semapv:UnspecifiedMatching +obo:GARD_21040 Genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 semapv:UnspecifiedMatching +obo:GARD_21041 Bile acid CoA ligase deficiency and defective amidation skos:exactMatch Orphanet:276066 semapv:UnspecifiedMatching +obo:GARD_21042 Rare tumor of salivary glands skos:exactMatch Orphanet:276142 semapv:UnspecifiedMatching +obo:GARD_21043 Malignant epithelial tumor of salivary glands skos:exactMatch Orphanet:276145 semapv:UnspecifiedMatching +obo:GARD_21044 Multiple endocrine neoplasia skos:exactMatch Orphanet:276161 semapv:UnspecifiedMatching +obo:GARD_21045 Idiopathic recurrent stupor skos:exactMatch Orphanet:276174 semapv:UnspecifiedMatching +obo:GARD_21046 Mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch Orphanet:276212 semapv:UnspecifiedMatching +obo:GARD_21047 Mucopolysaccharidosis type 6, slowly progressing skos:exactMatch Orphanet:276223 semapv:UnspecifiedMatching +obo:GARD_21048 Machado-Joseph disease type 1 skos:exactMatch Orphanet:276238 semapv:UnspecifiedMatching +obo:GARD_21049 Machado-Joseph disease type 2 skos:exactMatch Orphanet:276241 semapv:UnspecifiedMatching +obo:GARD_21050 Machado-Joseph disease type 3 skos:exactMatch Orphanet:276244 semapv:UnspecifiedMatching +obo:GARD_21051 Hemihyperplasia-multiple lipomatosis syndrome skos:exactMatch Orphanet:276280 semapv:UnspecifiedMatching +obo:GARD_21052 10q22.3q23.3 microduplication syndrome skos:exactMatch Orphanet:276422 semapv:UnspecifiedMatching +obo:GARD_21053 Familial hyperinsulinism skos:exactMatch Orphanet:276525 semapv:UnspecifiedMatching +obo:GARD_21054 Hyperinsulinism due to UCP2 deficiency skos:exactMatch Orphanet:276556 semapv:UnspecifiedMatching +obo:GARD_21055 Diazoxide-resistant hyperinsulinism skos:exactMatch Orphanet:276585 semapv:UnspecifiedMatching +obo:GARD_21056 Non-insulinoma pancreatogenous hypoglycemia syndrome skos:exactMatch Orphanet:276608 semapv:UnspecifiedMatching +obo:GARD_21057 Symptomatic form of Coffin-Lowry syndrome in female carriers skos:exactMatch Orphanet:276630 semapv:UnspecifiedMatching +obo:GARD_21058 Spasmus nutans skos:exactMatch Orphanet:279882 semapv:UnspecifiedMatching +obo:GARD_21059 Acute endophthalmitis skos:exactMatch Orphanet:279888 semapv:UnspecifiedMatching +obo:GARD_21060 Chronic endophthalmitis skos:exactMatch Orphanet:279891 semapv:UnspecifiedMatching +obo:GARD_21061 Toxic maculopathy due to antimalarial drugs skos:exactMatch Orphanet:279894 semapv:UnspecifiedMatching +obo:GARD_21062 Primary oculocerebral lymphoma skos:exactMatch Orphanet:279897 semapv:UnspecifiedMatching +obo:GARD_21063 Primary intraocular lymphoma skos:exactMatch Orphanet:279904 semapv:UnspecifiedMatching +obo:GARD_21064 Primary organ-specific lymphoma skos:exactMatch Orphanet:279911 semapv:UnspecifiedMatching +obo:GARD_21065 Intermediate uveitis skos:exactMatch Orphanet:279914 semapv:UnspecifiedMatching +obo:GARD_21066 Infectious posterior uveitis skos:exactMatch Orphanet:279919 semapv:UnspecifiedMatching +obo:GARD_21067 Infectious anterior uveitis skos:exactMatch Orphanet:279922 semapv:UnspecifiedMatching +obo:GARD_21068 Infectious panuveitis skos:exactMatch Orphanet:279925 semapv:UnspecifiedMatching +obo:GARD_21069 Paraneoplastic uveitis skos:exactMatch Orphanet:279928 semapv:UnspecifiedMatching +obo:GARD_21070 Calciphylaxis cutis skos:exactMatch Orphanet:280065 semapv:UnspecifiedMatching +obo:GARD_21071 Visceral calciphylaxis skos:exactMatch Orphanet:280068 semapv:UnspecifiedMatching +obo:GARD_21072 Laryngotracheoesophageal cleft type 0 skos:exactMatch Orphanet:280205 semapv:UnspecifiedMatching +obo:GARD_21073 Pelizaeus-Merzbacher disease, classic form skos:exactMatch Orphanet:280219 semapv:UnspecifiedMatching +obo:GARD_21074 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch Orphanet:280224 semapv:UnspecifiedMatching +obo:GARD_21075 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch Orphanet:280229 semapv:UnspecifiedMatching +obo:GARD_21076 Autoimmune pancreatitis type 1 skos:exactMatch Orphanet:280302 semapv:UnspecifiedMatching +obo:GARD_21077 Autoimmune pancreatitis type 2 skos:exactMatch Orphanet:280315 semapv:UnspecifiedMatching +obo:GARD_21078 Distal monosomy 12p skos:exactMatch Orphanet:280325 semapv:UnspecifiedMatching +obo:GARD_21079 Rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 semapv:UnspecifiedMatching +obo:GARD_2108 Encephalocraniocutaneous lipomatosis skos:exactMatch Orphanet:2396 semapv:UnspecifiedMatching +obo:GARD_2108 Encephalocraniocutaneous lipomatosis skos:narrowMatch OMIM:613001 semapv:UnspecifiedMatching +obo:GARD_21080 Autosomal semi-dominant severe lipodystrophic laminopathy skos:exactMatch Orphanet:280365 semapv:UnspecifiedMatching +obo:GARD_21081 Rare pediatric vasculitis skos:exactMatch Orphanet:280369 semapv:UnspecifiedMatching +obo:GARD_21082 Rare pediatric systemic disease skos:exactMatch Orphanet:280373 semapv:UnspecifiedMatching +obo:GARD_21083 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:exactMatch Orphanet:280384 semapv:UnspecifiedMatching +obo:GARD_21084 Familial Alzheimer-like prion disease skos:exactMatch Orphanet:280397 semapv:UnspecifiedMatching +obo:GARD_21085 Inherited human prion disease skos:exactMatch Orphanet:280400 semapv:UnspecifiedMatching +obo:GARD_21086 Familial omphalocele syndrome with facial dysmorphism skos:exactMatch Orphanet:280403 semapv:UnspecifiedMatching +obo:GARD_21087 Generalized essential telangiectasia skos:exactMatch Orphanet:280774 semapv:UnspecifiedMatching +obo:GARD_21088 Bullous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280785 semapv:UnspecifiedMatching +obo:GARD_21089 Pseudoxanthomatous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280794 semapv:UnspecifiedMatching +obo:GARD_21090 Intralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280802 semapv:UnspecifiedMatching +obo:GARD_21091 Extralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280811 semapv:UnspecifiedMatching +obo:GARD_21092 Communicating congenital bronchopulmonary-foregut malformation skos:exactMatch Orphanet:280821 semapv:UnspecifiedMatching +obo:GARD_21093 Congenital pulmonary airway malformation type 0 skos:exactMatch Orphanet:280827 semapv:UnspecifiedMatching +obo:GARD_21094 Congenital pulmonary airway malformation type 1 skos:exactMatch Orphanet:280832 semapv:UnspecifiedMatching +obo:GARD_21095 Congenital pulmonary airway malformation type 2 skos:exactMatch Orphanet:280840 semapv:UnspecifiedMatching +obo:GARD_21096 Congenital pulmonary airway malformation type 3 skos:exactMatch Orphanet:280847 semapv:UnspecifiedMatching +obo:GARD_21097 Congenital pulmonary airway malformation type 4 skos:exactMatch Orphanet:280854 semapv:UnspecifiedMatching +obo:GARD_21098 Idiopathic anterior uveitis skos:exactMatch Orphanet:280914 semapv:UnspecifiedMatching +obo:GARD_21099 Idiopathic posterior uveitis skos:exactMatch Orphanet:280917 semapv:UnspecifiedMatching +obo:GARD_21100 Idiopathic panuveitis skos:exactMatch Orphanet:280921 semapv:UnspecifiedMatching +obo:GARD_21101 Systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 semapv:UnspecifiedMatching +obo:GARD_21102 Systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 semapv:UnspecifiedMatching +obo:GARD_21103 Systemic diseases with panuveitis skos:exactMatch Orphanet:280933 semapv:UnspecifiedMatching +obo:GARD_21104 Inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 semapv:UnspecifiedMatching +obo:GARD_21105 Inherited ichthyosis syndromic form skos:exactMatch Orphanet:281085 semapv:UnspecifiedMatching +obo:GARD_21106 Autosomal recessive congenital ichthyosis skos:exactMatch Orphanet:281097 semapv:UnspecifiedMatching +obo:GARD_21107 Keratinopathic ichthyosis skos:exactMatch Orphanet:281103 semapv:UnspecifiedMatching +obo:GARD_21108 Acral self-healing collodion baby skos:exactMatch Orphanet:281127 semapv:UnspecifiedMatching +obo:GARD_21109 X-linked ichthyosis syndrome skos:exactMatch Orphanet:281210 semapv:UnspecifiedMatching +obo:GARD_21110 Autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 semapv:UnspecifiedMatching +obo:GARD_21111 Autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 semapv:UnspecifiedMatching +obo:GARD_21112 Autosomal ichthyosis syndrome with prominent neurologic signs skos:exactMatch Orphanet:281238 semapv:UnspecifiedMatching +obo:GARD_21113 Autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 semapv:UnspecifiedMatching +obo:GARD_21114 Autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 semapv:UnspecifiedMatching +obo:GARD_21115 Partial deletion of chromosome 12 skos:exactMatch Orphanet:282124 semapv:UnspecifiedMatching +obo:GARD_21116 Autoimmune polyendocrinopathy skos:exactMatch Orphanet:282196 semapv:UnspecifiedMatching +obo:GARD_21117 Xp22.13p22.2 duplication syndrome skos:exactMatch Orphanet:284180 semapv:UnspecifiedMatching +obo:GARD_21118 Fetal lung interstitial tumor skos:exactMatch Orphanet:284362 semapv:UnspecifiedMatching +obo:GARD_21119 Familial intrahepatic cholestasis skos:exactMatch Orphanet:284385 semapv:UnspecifiedMatching +obo:GARD_21120 Well-differentiated fetal adenocarcinoma of the lung skos:exactMatch Orphanet:284395 semapv:UnspecifiedMatching +obo:GARD_21121 Acute annular outer retinopathy skos:exactMatch Orphanet:284460 semapv:UnspecifiedMatching +obo:GARD_21122 Qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 semapv:UnspecifiedMatching +obo:GARD_21123 Qualitative or quantitative defects of tropomyosin skos:exactMatch Orphanet:284790 semapv:UnspecifiedMatching +obo:GARD_21124 Ocular albinism skos:exactMatch Orphanet:284804 semapv:UnspecifiedMatching +obo:GARD_21125 Syndromic oculocutaneous albinism skos:exactMatch Orphanet:284811 semapv:UnspecifiedMatching +obo:GARD_21126 Disorder of phenylalanine metabolism skos:exactMatch Orphanet:284814 semapv:UnspecifiedMatching +obo:GARD_21127 Disorder of tyrosine metabolism skos:exactMatch Orphanet:284818 semapv:UnspecifiedMatching +obo:GARD_21128 Neonatal Marfan syndrome skos:exactMatch Orphanet:284979 semapv:UnspecifiedMatching +obo:GARD_21129 Marfan syndrome and Marfan-related disorders skos:exactMatch Orphanet:284993 semapv:UnspecifiedMatching +obo:GARD_2113 Bonnemann-Meinecke-Reich syndrome skos:exactMatch Orphanet:1261 semapv:UnspecifiedMatching +obo:GARD_2113 Bonnemann-Meinecke-Reich syndrome skos:narrowMatch OMIM:225755 semapv:UnspecifiedMatching +obo:GARD_21130 Rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 semapv:UnspecifiedMatching +obo:GARD_21131 Disorder of folate metabolism and transport skos:exactMatch Orphanet:285657 semapv:UnspecifiedMatching +obo:GARD_21132 Disorders of vitamin D metabolism skos:exactMatch Orphanet:289098 semapv:UnspecifiedMatching +obo:GARD_21133 Hypocalcemic rickets skos:exactMatch Orphanet:289103 semapv:UnspecifiedMatching +obo:GARD_21134 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch Orphanet:289266 semapv:UnspecifiedMatching +obo:GARD_21135 Infective dermatitis associated with HTLV-1 skos:exactMatch Orphanet:289347 semapv:UnspecifiedMatching +obo:GARD_21136 Primary non-gestational choriocarcinoma of ovary skos:exactMatch Orphanet:289356 semapv:UnspecifiedMatching +obo:GARD_21137 Non-central nervous system-localized embryonal carcinoma skos:exactMatch Orphanet:289362 semapv:UnspecifiedMatching +obo:GARD_21138 Malignancy diagnosed during pregnancy skos:exactMatch Orphanet:289385 semapv:UnspecifiedMatching +obo:GARD_21139 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch Orphanet:289478 semapv:UnspecifiedMatching +obo:GARD_21140 4H leukodystrophy skos:exactMatch Orphanet:289494 semapv:UnspecifiedMatching +obo:GARD_21141 12q15q21.1 microdeletion syndrome skos:exactMatch Orphanet:289513 semapv:UnspecifiedMatching +obo:GARD_21142 Microtriplication 11q24.1 skos:exactMatch Orphanet:289522 semapv:UnspecifiedMatching +obo:GARD_21143 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch Orphanet:289548 semapv:UnspecifiedMatching +obo:GARD_21144 Juvenile nasopharyngeal angiofibroma skos:exactMatch Orphanet:289596 semapv:UnspecifiedMatching +obo:GARD_21145 Rare virus associated tumor skos:exactMatch Orphanet:289635 semapv:UnspecifiedMatching +obo:GARD_21146 Epstein-Barr Virus-related tumor skos:exactMatch Orphanet:289638 semapv:UnspecifiedMatching +obo:GARD_21147 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:exactMatch Orphanet:289644 semapv:UnspecifiedMatching +obo:GARD_21148 Epstein-Barr Virus-associated carcinoma skos:exactMatch Orphanet:289651 semapv:UnspecifiedMatching +obo:GARD_21149 Epstein-Barr Virus-associated mesenchymal tumor skos:exactMatch Orphanet:289656 semapv:UnspecifiedMatching +obo:GARD_21150 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch Orphanet:289661 semapv:UnspecifiedMatching +obo:GARD_21151 Lymphoepithelial-like carcinoma skos:exactMatch Orphanet:289682 semapv:UnspecifiedMatching +obo:GARD_21152 Myopericytoma skos:exactMatch Orphanet:289685 semapv:UnspecifiedMatching +obo:GARD_21153 Late-onset primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:289825 semapv:UnspecifiedMatching +obo:GARD_21154 Disorder of tryptophan metabolism skos:exactMatch Orphanet:289829 semapv:UnspecifiedMatching +obo:GARD_21155 Disorder of lysine and hydroxylysine metabolism skos:exactMatch Orphanet:289832 semapv:UnspecifiedMatching +obo:GARD_21156 Disorder of glutamine metabolism skos:exactMatch Orphanet:289841 semapv:UnspecifiedMatching +obo:GARD_21157 Disorder of proline metabolism skos:exactMatch Orphanet:289866 semapv:UnspecifiedMatching +obo:GARD_21158 Disorder of ornithine metabolism skos:exactMatch Orphanet:289869 semapv:UnspecifiedMatching +obo:GARD_21159 Transient hyperammonemia of the newborn skos:exactMatch Orphanet:289877 semapv:UnspecifiedMatching +obo:GARD_21160 Systemic disease with skin involvement skos:exactMatch Orphanet:290836 semapv:UnspecifiedMatching +obo:GARD_21161 Autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 semapv:UnspecifiedMatching +obo:GARD_21162 Autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 semapv:UnspecifiedMatching +obo:GARD_21163 Rare head and neck tumor skos:exactMatch Orphanet:290849 semapv:UnspecifiedMatching +obo:GARD_21164 Acute generalized exanthematous pustulosis skos:exactMatch Orphanet:293173 semapv:UnspecifiedMatching +obo:GARD_21165 Pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 semapv:UnspecifiedMatching +obo:GARD_21166 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch Orphanet:293284 semapv:UnspecifiedMatching +obo:GARD_21167 Grayson-Wilbrandt corneal dystrophy skos:exactMatch Orphanet:293375 semapv:UnspecifiedMatching +obo:GARD_21168 Pre-Descemet corneal dystrophy skos:exactMatch Orphanet:293462 semapv:UnspecifiedMatching +obo:GARD_21169 Ketamine-induced biliary dilatation skos:exactMatch Orphanet:293807 semapv:UnspecifiedMatching +obo:GARD_21170 Fixed drug eruption skos:exactMatch Orphanet:293812 semapv:UnspecifiedMatching +obo:GARD_21171 Toxic dermatosis skos:exactMatch Orphanet:293815 semapv:UnspecifiedMatching +obo:GARD_21172 Constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 semapv:UnspecifiedMatching +obo:GARD_21173 1p21.3 microdeletion syndrome skos:exactMatch Orphanet:293948 semapv:UnspecifiedMatching +obo:GARD_21174 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:293967 semapv:UnspecifiedMatching +obo:GARD_21175 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication skos:exactMatch Orphanet:294026 semapv:UnspecifiedMatching +obo:GARD_21176 Rare nevus skos:exactMatch Orphanet:294057 semapv:UnspecifiedMatching +obo:GARD_21177 Multiple pterygium syndrome skos:exactMatch Orphanet:294060 semapv:UnspecifiedMatching +obo:GARD_21178 Chronic intestinal failure skos:exactMatch Orphanet:294422 semapv:UnspecifiedMatching +obo:GARD_21179 Amelia skos:exactMatch Orphanet:294925 semapv:UnspecifiedMatching +obo:GARD_21180 Intercalary limb defects skos:exactMatch Orphanet:294927 semapv:UnspecifiedMatching +obo:GARD_21181 Congenital deformities of limbs skos:exactMatch Orphanet:294944 semapv:UnspecifiedMatching +obo:GARD_21182 Congenital deformities of fingers skos:exactMatch Orphanet:294947 semapv:UnspecifiedMatching +obo:GARD_21183 Joint formation defects skos:exactMatch Orphanet:294949 semapv:UnspecifiedMatching +obo:GARD_21184 Congenital joint dislocations skos:exactMatch Orphanet:294951 semapv:UnspecifiedMatching +obo:GARD_21185 Non syndromic limb overgrowth skos:exactMatch Orphanet:294953 semapv:UnspecifiedMatching +obo:GARD_21186 Syndrome with limb reduction defects skos:exactMatch Orphanet:294955 semapv:UnspecifiedMatching +obo:GARD_21187 Dysostosis with combined reduction defects of upper and lower limbs skos:exactMatch Orphanet:294957 semapv:UnspecifiedMatching +obo:GARD_21188 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy skos:exactMatch Orphanet:294959 semapv:UnspecifiedMatching +obo:GARD_21189 Popliteal pterygium syndrome skos:exactMatch Orphanet:294963 semapv:UnspecifiedMatching +obo:GARD_21190 Amelia of upper limb skos:exactMatch Orphanet:294967 semapv:UnspecifiedMatching +obo:GARD_21191 Amelia of lower limb skos:exactMatch Orphanet:294969 semapv:UnspecifiedMatching +obo:GARD_21192 Humeral agenesis/hypoplasia skos:exactMatch Orphanet:294973 semapv:UnspecifiedMatching +obo:GARD_21193 Congenital absence of thigh and lower leg with foot present skos:exactMatch Orphanet:294977 semapv:UnspecifiedMatching +obo:GARD_21194 Congenital absence of both forearm and hand skos:exactMatch Orphanet:294979 semapv:UnspecifiedMatching +obo:GARD_21195 Congenital absence of both lower leg and foot skos:exactMatch Orphanet:294981 semapv:UnspecifiedMatching +obo:GARD_21196 Acheiria skos:exactMatch Orphanet:294983 semapv:UnspecifiedMatching +obo:GARD_21197 Apodia skos:exactMatch Orphanet:294986 semapv:UnspecifiedMatching +obo:GARD_21198 Congenital hypoplasia of thumb skos:exactMatch Orphanet:294988 semapv:UnspecifiedMatching +obo:GARD_21199 Hyperphalangy skos:exactMatch Orphanet:295002 semapv:UnspecifiedMatching +obo:GARD_212 Oculodental syndrome, Rutherfurd type skos:exactMatch Orphanet:2709 semapv:UnspecifiedMatching +obo:GARD_212 Oculodental syndrome, Rutherfurd type skos:narrowMatch OMIM:180900 semapv:UnspecifiedMatching +obo:GARD_21200 Central polydactyly skos:exactMatch Orphanet:295004 semapv:UnspecifiedMatching +obo:GARD_21201 Syndactyly type 6 skos:exactMatch Orphanet:295012 semapv:UnspecifiedMatching +obo:GARD_21202 Familial isolated clinodactyly of fingers skos:exactMatch Orphanet:295014 semapv:UnspecifiedMatching +obo:GARD_21203 Congenital pseudoarthrosis of the tibia skos:exactMatch Orphanet:295018 semapv:UnspecifiedMatching +obo:GARD_21204 Congenital pseudoarthrosis of the femur skos:exactMatch Orphanet:295020 semapv:UnspecifiedMatching +obo:GARD_21205 Congenital pseudoarthrosis of the fibula skos:exactMatch Orphanet:295022 semapv:UnspecifiedMatching +obo:GARD_21206 Congenital pseudoarthrosis of the radius skos:exactMatch Orphanet:295024 semapv:UnspecifiedMatching +obo:GARD_21207 Congenital pseudoarthrosis of the ulna skos:exactMatch Orphanet:295026 semapv:UnspecifiedMatching +obo:GARD_21208 Tibio-fibular synostosis skos:exactMatch Orphanet:295028 semapv:UnspecifiedMatching +obo:GARD_21209 True congenital shoulder dislocation skos:exactMatch Orphanet:295030 semapv:UnspecifiedMatching +obo:GARD_21210 Isolated congenital radial head dislocation skos:exactMatch Orphanet:295032 semapv:UnspecifiedMatching +obo:GARD_21211 Congenital knee dislocation skos:exactMatch Orphanet:295034 semapv:UnspecifiedMatching +obo:GARD_21212 Upper limb hypertrophy skos:exactMatch Orphanet:295049 semapv:UnspecifiedMatching +obo:GARD_21213 Lower limb hypertrophy skos:exactMatch Orphanet:295051 semapv:UnspecifiedMatching +obo:GARD_21214 Zygodactyly type 2 skos:exactMatch Orphanet:295189 semapv:UnspecifiedMatching +obo:GARD_21215 Zygodactyly type 3 skos:exactMatch Orphanet:295191 semapv:UnspecifiedMatching +obo:GARD_21216 Zygodactyly type 4 skos:exactMatch Orphanet:295193 semapv:UnspecifiedMatching +obo:GARD_21217 Congenital vertical talus, unilateral skos:exactMatch Orphanet:295201 semapv:UnspecifiedMatching +obo:GARD_21218 Congenital vertical talus, bilateral skos:exactMatch Orphanet:295203 semapv:UnspecifiedMatching +obo:GARD_21219 Humero-ulnar synostosis, unilateral skos:exactMatch Orphanet:295213 semapv:UnspecifiedMatching +obo:GARD_21220 Humero-ulnar synostosis, bilateral skos:exactMatch Orphanet:295215 semapv:UnspecifiedMatching +obo:GARD_21221 Radio-ulnar synostosis, unilateral skos:exactMatch Orphanet:295217 semapv:UnspecifiedMatching +obo:GARD_21222 Radio-ulnar synostosis, bilateral skos:exactMatch Orphanet:295219 semapv:UnspecifiedMatching +obo:GARD_21223 Congenital elbow dislocation, unilateral skos:exactMatch Orphanet:295225 semapv:UnspecifiedMatching +obo:GARD_21224 Congenital elbow dislocation, bilateral skos:exactMatch Orphanet:295227 semapv:UnspecifiedMatching +obo:GARD_21225 Congenital genu recurvatum skos:exactMatch Orphanet:295229 semapv:UnspecifiedMatching +obo:GARD_21226 Congenital genu flexum skos:exactMatch Orphanet:295232 semapv:UnspecifiedMatching +obo:GARD_21227 Macrodactyly of fingers, unilateral skos:exactMatch Orphanet:295239 semapv:UnspecifiedMatching +obo:GARD_21228 Macrodactyly of fingers, bilateral skos:exactMatch Orphanet:295241 semapv:UnspecifiedMatching +obo:GARD_21229 Macrodactyly of toes, unilateral skos:exactMatch Orphanet:295243 semapv:UnspecifiedMatching +obo:GARD_2123 Eng-Strom syndrome skos:exactMatch Orphanet:1937 semapv:UnspecifiedMatching +obo:GARD_2123 Eng-Strom syndrome skos:narrowMatch OMIM:135950 semapv:UnspecifiedMatching +obo:GARD_21230 Macrodactyly of toes, bilateral skos:exactMatch Orphanet:295245 semapv:UnspecifiedMatching +obo:GARD_21231 Disorder of thiamine metabolism and transport skos:exactMatch Orphanet:298644 semapv:UnspecifiedMatching +obo:GARD_21232 11p15.4 microduplication syndrome skos:exactMatch Orphanet:300305 semapv:UnspecifiedMatching +obo:GARD_21233 Sagliker syndrome skos:exactMatch Orphanet:300493 semapv:UnspecifiedMatching +obo:GARD_21234 Onychomatricoma skos:exactMatch Orphanet:300512 semapv:UnspecifiedMatching +obo:GARD_21235 Rare nail tumor skos:exactMatch Orphanet:300515 semapv:UnspecifiedMatching +obo:GARD_21236 Follicular cholangitis and pancreatitis skos:exactMatch Orphanet:300552 semapv:UnspecifiedMatching +obo:GARD_21237 Carcinoma of the ampulla of Vater skos:exactMatch Orphanet:300557 semapv:UnspecifiedMatching +obo:GARD_21238 Combined pulmonary fibrosis-emphysema syndrome skos:exactMatch Orphanet:300564 semapv:UnspecifiedMatching +obo:GARD_21239 Staphylococcal toxemia skos:exactMatch Orphanet:300579 semapv:UnspecifiedMatching +obo:GARD_21240 Laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 semapv:UnspecifiedMatching +obo:GARD_21241 Laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 semapv:UnspecifiedMatching +obo:GARD_21242 Laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 semapv:UnspecifiedMatching +obo:GARD_21243 Laminopathy with premature aging skos:exactMatch Orphanet:300766 semapv:UnspecifiedMatching +obo:GARD_21244 Indolent B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300842 semapv:UnspecifiedMatching +obo:GARD_21245 Aggressive B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300846 semapv:UnspecifiedMatching +obo:GARD_21246 Diffuse large B-cell lymphoma of the central nervous system skos:exactMatch Orphanet:300849 semapv:UnspecifiedMatching +obo:GARD_21247 Primary cutaneous anaplastic large cell lymphoma skos:exactMatch Orphanet:300865 semapv:UnspecifiedMatching +obo:GARD_21248 Splenic diffuse red pulp small B-cell lymphoma skos:exactMatch Orphanet:300869 semapv:UnspecifiedMatching +obo:GARD_21249 Hairy cell leukemia variant skos:exactMatch Orphanet:300878 semapv:UnspecifiedMatching +obo:GARD_2125 Glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch Orphanet:99849 semapv:UnspecifiedMatching +obo:GARD_2125 Glycogen storage disease due to muscle beta-enolase deficiency skos:narrowMatch OMIM:612932 semapv:UnspecifiedMatching +obo:GARD_21250 Diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch Orphanet:300888 semapv:UnspecifiedMatching +obo:GARD_21251 ALK-positive anaplastic large cell lymphoma skos:exactMatch Orphanet:300895 semapv:UnspecifiedMatching +obo:GARD_21252 ALK-negative anaplastic large cell lymphoma skos:exactMatch Orphanet:300903 semapv:UnspecifiedMatching +obo:GARD_21253 Pituitary tumor skos:exactMatch Orphanet:304055 semapv:UnspecifiedMatching +obo:GARD_21254 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:exactMatch Orphanet:306516 semapv:UnspecifiedMatching +obo:GARD_21255 Myospherulosis skos:exactMatch Orphanet:306553 semapv:UnspecifiedMatching +obo:GARD_21256 Rare tumor of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:306633 semapv:UnspecifiedMatching +obo:GARD_21257 Rare tumor of liver and intrahepatic biliary tract skos:exactMatch Orphanet:306636 semapv:UnspecifiedMatching +obo:GARD_21258 Rare intoxication due to medical products skos:exactMatch Orphanet:306640 semapv:UnspecifiedMatching +obo:GARD_21259 Complication after organ transplantation skos:exactMatch Orphanet:306644 semapv:UnspecifiedMatching +obo:GARD_21260 Non-infectious anterior uveitis skos:exactMatch Orphanet:306648 semapv:UnspecifiedMatching +obo:GARD_21261 Rare parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 semapv:UnspecifiedMatching +obo:GARD_21262 Hemiparkinsonism-hemiatrophy syndrome skos:exactMatch Orphanet:306669 semapv:UnspecifiedMatching +obo:GARD_21263 Rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 semapv:UnspecifiedMatching +obo:GARD_21264 Manganese poisoning skos:exactMatch Orphanet:306682 semapv:UnspecifiedMatching +obo:GARD_21265 Delayed encephalopathy due to carbon monoxide poisoning skos:exactMatch Orphanet:306686 semapv:UnspecifiedMatching +obo:GARD_21266 Cyanide-induced parkinsonism-dystonia skos:exactMatch Orphanet:306692 semapv:UnspecifiedMatching +obo:GARD_21267 Miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 semapv:UnspecifiedMatching +obo:GARD_21268 Frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 semapv:UnspecifiedMatching +obo:GARD_21269 Rare tremor disorder skos:exactMatch Orphanet:306712 semapv:UnspecifiedMatching +obo:GARD_21270 Rare choreic movement disorder skos:exactMatch Orphanet:306715 semapv:UnspecifiedMatching +obo:GARD_21271 Neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 semapv:UnspecifiedMatching +obo:GARD_21272 Postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 semapv:UnspecifiedMatching +obo:GARD_21273 Hemidystonia-hemiatrophy syndrome skos:exactMatch Orphanet:306741 semapv:UnspecifiedMatching +obo:GARD_21274 Rare myoclonus skos:exactMatch Orphanet:306747 semapv:UnspecifiedMatching +obo:GARD_21275 Primary myoclonus skos:exactMatch Orphanet:306750 semapv:UnspecifiedMatching +obo:GARD_21276 Rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 semapv:UnspecifiedMatching +obo:GARD_21277 Epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306756 semapv:UnspecifiedMatching +obo:GARD_21278 Non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 semapv:UnspecifiedMatching +obo:GARD_21279 Motor stereotypies skos:exactMatch Orphanet:306765 semapv:UnspecifiedMatching +obo:GARD_21280 Rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 semapv:UnspecifiedMatching +obo:GARD_21281 Hyperekplexia skos:exactMatch Orphanet:306773 semapv:UnspecifiedMatching +obo:GARD_21282 Sporadic hyperekplexia skos:exactMatch Orphanet:306776 semapv:UnspecifiedMatching +obo:GARD_21283 Rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 semapv:UnspecifiedMatching +obo:GARD_21284 Rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 semapv:UnspecifiedMatching +obo:GARD_21285 Miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 semapv:UnspecifiedMatching +obo:GARD_21286 Rare genetic tremor disorder skos:exactMatch Orphanet:307061 semapv:UnspecifiedMatching +obo:GARD_21287 Rare genetic myoclonus skos:exactMatch Orphanet:307064 semapv:UnspecifiedMatching +obo:GARD_21288 Rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 semapv:UnspecifiedMatching +obo:GARD_21289 Diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307141 semapv:UnspecifiedMatching +obo:GARD_21290 Isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 semapv:UnspecifiedMatching +obo:GARD_21291 Disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 semapv:UnspecifiedMatching +obo:GARD_21292 Autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 semapv:UnspecifiedMatching +obo:GARD_21293 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 semapv:UnspecifiedMatching +obo:GARD_21294 Focal palmoplantar keratoderma skos:exactMatch Orphanet:307837 semapv:UnspecifiedMatching +obo:GARD_21295 Isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 semapv:UnspecifiedMatching +obo:GARD_21296 Disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 semapv:UnspecifiedMatching +obo:GARD_21297 Punctate palmoplantar keratoderma skos:exactMatch Orphanet:307967 semapv:UnspecifiedMatching +obo:GARD_21298 Marginal papular palmoplantar keratoderma skos:exactMatch Orphanet:307995 semapv:UnspecifiedMatching +obo:GARD_21299 Focal acral hyperkeratosis skos:exactMatch Orphanet:308013 semapv:UnspecifiedMatching +obo:GARD_213 Axial mesodermal dysplasia spectrum skos:exactMatch Orphanet:1834 semapv:UnspecifiedMatching +obo:GARD_2130 Congenital enterovirus infection skos:exactMatch Orphanet:292 semapv:UnspecifiedMatching +obo:GARD_21300 Disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 semapv:UnspecifiedMatching +obo:GARD_21301 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 semapv:UnspecifiedMatching +obo:GARD_21302 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 semapv:UnspecifiedMatching +obo:GARD_21303 Disorder of beta and omega amino acid metabolism skos:exactMatch Orphanet:308407 semapv:UnspecifiedMatching +obo:GARD_21304 Aminoacylase deficiency skos:exactMatch Orphanet:308448 semapv:UnspecifiedMatching +obo:GARD_21305 Disorder of neutral amino acid transport skos:exactMatch Orphanet:308451 semapv:UnspecifiedMatching +obo:GARD_21306 Disorder of glycolysis skos:exactMatch Orphanet:308459 semapv:UnspecifiedMatching +obo:GARD_21307 Disorder of fructose metabolism skos:exactMatch Orphanet:308463 semapv:UnspecifiedMatching +obo:GARD_21308 Disorder of galactose metabolism skos:exactMatch Orphanet:308467 semapv:UnspecifiedMatching +obo:GARD_21309 Glycogen storage disease due to glycogen synthase deficiency skos:exactMatch Orphanet:308520 semapv:UnspecifiedMatching +obo:GARD_21310 Glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch Orphanet:308552 semapv:UnspecifiedMatching +obo:GARD_21311 Glycerol kinase deficiency skos:exactMatch Orphanet:308993 semapv:UnspecifiedMatching +obo:GARD_21312 Disorder of glyoxylate metabolism skos:exactMatch Orphanet:308998 semapv:UnspecifiedMatching +obo:GARD_21313 Disorder of carbohydrate absorption and transport skos:exactMatch Orphanet:309001 semapv:UnspecifiedMatching +obo:GARD_21314 Disorder of lipid metabolism skos:exactMatch Orphanet:309005 semapv:UnspecifiedMatching +obo:GARD_21315 Mevalonate kinase deficiency skos:exactMatch Orphanet:309025 semapv:UnspecifiedMatching +obo:GARD_21316 Disorder of lipid absorption and transport skos:exactMatch Orphanet:309028 semapv:UnspecifiedMatching +obo:GARD_21317 Disorder of fatty acid oxidation and ketogenesis skos:exactMatch Orphanet:309115 semapv:UnspecifiedMatching +obo:GARD_21318 Acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309120 semapv:UnspecifiedMatching +obo:GARD_21319 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309127 semapv:UnspecifiedMatching +obo:GARD_21320 Disorder of carnitine cycle and carnitine transport skos:exactMatch Orphanet:309130 semapv:UnspecifiedMatching +obo:GARD_21321 Metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 semapv:UnspecifiedMatching +obo:GARD_21322 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 semapv:UnspecifiedMatching +obo:GARD_21323 GM2 gangliosidosis skos:exactMatch Orphanet:309152 semapv:UnspecifiedMatching +obo:GARD_21324 Tay-Sachs disease, B variant, infantile form skos:exactMatch Orphanet:309178 semapv:UnspecifiedMatching +obo:GARD_21325 Tay-Sachs disease, B variant, juvenile form skos:exactMatch Orphanet:309185 semapv:UnspecifiedMatching +obo:GARD_21326 Tay-Sachs disease, B variant, adult form skos:exactMatch Orphanet:309192 semapv:UnspecifiedMatching +obo:GARD_21327 Tay-Sachs disease, B1 variant skos:exactMatch Orphanet:309239 semapv:UnspecifiedMatching +obo:GARD_21328 Metachromatic leukodystrophy, late infantile form skos:exactMatch Orphanet:309256 semapv:UnspecifiedMatching +obo:GARD_21329 Metachromatic leukodystrophy, juvenile form skos:exactMatch Orphanet:309263 semapv:UnspecifiedMatching +obo:GARD_21330 Metachromatic leukodystrophy, adult form skos:exactMatch Orphanet:309271 semapv:UnspecifiedMatching +obo:GARD_21331 Sialidosis skos:exactMatch Orphanet:309294 semapv:UnspecifiedMatching +obo:GARD_21332 Disorder of sialic acid metabolism skos:exactMatch Orphanet:309319 semapv:UnspecifiedMatching +obo:GARD_21333 Lysosomal glycogen storage disease skos:exactMatch Orphanet:309337 semapv:UnspecifiedMatching +obo:GARD_21334 Disorder of lysosomal-related organelles skos:exactMatch Orphanet:309340 semapv:UnspecifiedMatching +obo:GARD_21335 Disorder of protein N-glycosylation skos:exactMatch Orphanet:309347 semapv:UnspecifiedMatching +obo:GARD_21336 Disorder of protein O-glycosylation skos:exactMatch Orphanet:309447 semapv:UnspecifiedMatching +obo:GARD_21337 Disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 semapv:UnspecifiedMatching +obo:GARD_21338 Disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 semapv:UnspecifiedMatching +obo:GARD_21339 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 semapv:UnspecifiedMatching +obo:GARD_21340 Disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 semapv:UnspecifiedMatching +obo:GARD_21341 Disorder of fucoglycosan synthesis skos:exactMatch Orphanet:309505 semapv:UnspecifiedMatching +obo:GARD_21342 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:exactMatch Orphanet:309515 semapv:UnspecifiedMatching +obo:GARD_21343 Disorder of multiple glycosylation skos:exactMatch Orphanet:309526 semapv:UnspecifiedMatching +obo:GARD_21344 Defect in conserved oligomeric Golgi complex skos:exactMatch Orphanet:309568 semapv:UnspecifiedMatching +obo:GARD_21345 Defect in V-ATPase skos:exactMatch Orphanet:309778 semapv:UnspecifiedMatching +obo:GARD_21346 Disorder of porphyrin and heme metabolism skos:exactMatch Orphanet:309813 semapv:UnspecifiedMatching +obo:GARD_21347 Disorder of bilirubin metabolism and excretion skos:exactMatch Orphanet:309816 semapv:UnspecifiedMatching +obo:GARD_21348 Disorder of pterin metabolism skos:exactMatch Orphanet:309819 semapv:UnspecifiedMatching +obo:GARD_21349 Disorder of metabolite absorption and transport skos:exactMatch Orphanet:309824 semapv:UnspecifiedMatching +obo:GARD_21350 Disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch Orphanet:309827 semapv:UnspecifiedMatching +obo:GARD_21351 Disorder of catecholamine synthesis skos:exactMatch Orphanet:309830 semapv:UnspecifiedMatching +obo:GARD_21352 Disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 semapv:UnspecifiedMatching +obo:GARD_21353 Disorder of mineral absorption and transport skos:exactMatch Orphanet:309836 semapv:UnspecifiedMatching +obo:GARD_21354 Disorder of copper metabolism skos:exactMatch Orphanet:309839 semapv:UnspecifiedMatching +obo:GARD_21355 Disorder of iron metabolism and transport skos:exactMatch Orphanet:309842 semapv:UnspecifiedMatching +obo:GARD_21356 Disorder of zinc metabolism and transport skos:exactMatch Orphanet:309845 semapv:UnspecifiedMatching +obo:GARD_21357 Disorder of magnesium transport skos:exactMatch Orphanet:309848 semapv:UnspecifiedMatching +obo:GARD_21358 Disorder of manganese transport skos:exactMatch Orphanet:309851 semapv:UnspecifiedMatching +obo:GARD_21359 Acquired immunodeficiency skos:exactMatch Orphanet:310050 semapv:UnspecifiedMatching +obo:GARD_21360 20p13 microdeletion syndrome skos:exactMatch Orphanet:313781 semapv:UnspecifiedMatching +obo:GARD_21361 Congenital pancreatic cyst skos:exactMatch Orphanet:313906 semapv:UnspecifiedMatching +obo:GARD_21362 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch Orphanet:313920 semapv:UnspecifiedMatching +obo:GARD_21363 2q23.1 microduplication syndrome skos:exactMatch Orphanet:313947 semapv:UnspecifiedMatching +obo:GARD_21364 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome skos:exactMatch Orphanet:314002 semapv:UnspecifiedMatching +obo:GARD_21365 Idiopathic linear interstitial keratitis skos:exactMatch Orphanet:314017 semapv:UnspecifiedMatching +obo:GARD_21366 High bone mass osteogenesis imperfecta skos:exactMatch Orphanet:314029 semapv:UnspecifiedMatching +obo:GARD_21367 7p22.1 microduplication syndrome skos:exactMatch Orphanet:314034 semapv:UnspecifiedMatching +obo:GARD_21368 Marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:exactMatch Orphanet:314041 semapv:UnspecifiedMatching +obo:GARD_21369 Xq12-q13.3 duplication syndrome skos:exactMatch Orphanet:314389 semapv:UnspecifiedMatching +obo:GARD_2137 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch Orphanet:257 semapv:UnspecifiedMatching +obo:GARD_2137 Epidermolysis bullosa simplex with muscular dystrophy skos:narrowMatch OMIM:226670 semapv:UnspecifiedMatching +obo:GARD_21370 Rare odontogenic tumor skos:exactMatch Orphanet:314425 semapv:UnspecifiedMatching +obo:GARD_21371 Spigelian hernia-cryptorchidism syndrome skos:exactMatch Orphanet:314432 semapv:UnspecifiedMatching +obo:GARD_21372 Meigs syndrome skos:exactMatch Orphanet:314451 semapv:UnspecifiedMatching +obo:GARD_21373 Pseudo-Meigs syndrome skos:exactMatch Orphanet:314459 semapv:UnspecifiedMatching +obo:GARD_21374 Atypical Meigs syndrome skos:exactMatch Orphanet:314466 semapv:UnspecifiedMatching +obo:GARD_21375 Ovarian fibroma skos:exactMatch Orphanet:314473 semapv:UnspecifiedMatching +obo:GARD_21376 Ovarian fibrothecoma skos:exactMatch Orphanet:314478 semapv:UnspecifiedMatching +obo:GARD_21377 Primary progressive apraxia of speech skos:exactMatch Orphanet:314566 semapv:UnspecifiedMatching +obo:GARD_21378 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:exactMatch Orphanet:314572 semapv:UnspecifiedMatching +obo:GARD_21379 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:exactMatch Orphanet:314575 semapv:UnspecifiedMatching +obo:GARD_21380 Growing teratoma syndrome skos:exactMatch Orphanet:314613 semapv:UnspecifiedMatching +obo:GARD_21381 Duplication of the pituitary gland skos:exactMatch Orphanet:314621 semapv:UnspecifiedMatching +obo:GARD_21382 Variant ABeta2M amyloidosis skos:exactMatch Orphanet:314652 semapv:UnspecifiedMatching +obo:GARD_21383 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch Orphanet:314655 semapv:UnspecifiedMatching +obo:GARD_21384 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:exactMatch Orphanet:314662 semapv:UnspecifiedMatching +obo:GARD_21385 Primary bone lymphoma skos:exactMatch Orphanet:314684 semapv:UnspecifiedMatching +obo:GARD_21386 Acquired porencephaly skos:exactMatch Orphanet:314697 semapv:UnspecifiedMatching +obo:GARD_21387 Primary localized amyloidosis skos:exactMatch Orphanet:314709 semapv:UnspecifiedMatching +obo:GARD_21388 Rare disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 semapv:UnspecifiedMatching +obo:GARD_21389 Functioning pituitary adenoma skos:exactMatch Orphanet:314753 semapv:UnspecifiedMatching +obo:GARD_2139 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:exactMatch Orphanet:231568 semapv:UnspecifiedMatching +obo:GARD_2139 Autosomal dominant generalized dystrophic epidermolysis bullosa skos:narrowMatch OMIM:131750 semapv:UnspecifiedMatching +obo:GARD_21390 Mixed functioning pituitary adenoma skos:exactMatch Orphanet:314759 semapv:UnspecifiedMatching +obo:GARD_21391 Somatomammotropinoma skos:exactMatch Orphanet:314769 semapv:UnspecifiedMatching +obo:GARD_21392 Silent pituitary adenoma skos:exactMatch Orphanet:314786 semapv:UnspecifiedMatching +obo:GARD_21393 Null pituitary adenoma skos:exactMatch Orphanet:314790 semapv:UnspecifiedMatching +obo:GARD_21394 Autosomal dominant proximal renal tubular acidosis skos:exactMatch Orphanet:314889 semapv:UnspecifiedMatching +obo:GARD_21395 Primary hypereosinophilic syndrome skos:exactMatch Orphanet:314950 semapv:UnspecifiedMatching +obo:GARD_21396 Secondary hypereosinophilic syndrome skos:exactMatch Orphanet:314962 semapv:UnspecifiedMatching +obo:GARD_21397 Lymphocytic hypereosinophilic syndrome skos:exactMatch Orphanet:314970 semapv:UnspecifiedMatching +obo:GARD_21398 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:exactMatch Orphanet:315306 semapv:UnspecifiedMatching +obo:GARD_21399 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:exactMatch Orphanet:315311 semapv:UnspecifiedMatching +obo:GARD_21400 Autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 semapv:UnspecifiedMatching +obo:GARD_21401 Spastic ataxia skos:exactMatch Orphanet:316226 semapv:UnspecifiedMatching +obo:GARD_21402 Autosomal dominant spastic ataxia skos:exactMatch Orphanet:316235 semapv:UnspecifiedMatching +obo:GARD_21403 Autosomal recessive spastic ataxia skos:exactMatch Orphanet:316240 semapv:UnspecifiedMatching +obo:GARD_21404 Partial deletion of the short arm of chromosome 12 skos:exactMatch Orphanet:316244 semapv:UnspecifiedMatching +obo:GARD_21405 T-B+ severe combined immunodeficiency skos:exactMatch Orphanet:317416 semapv:UnspecifiedMatching +obo:GARD_21406 T-B- severe combined immunodeficiency skos:exactMatch Orphanet:317419 semapv:UnspecifiedMatching +obo:GARD_21407 Diencephalic-mesencephalic junction dysplasia skos:exactMatch Orphanet:319192 semapv:UnspecifiedMatching +obo:GARD_21408 Chondroectodermal dysplasia with night blindness skos:exactMatch Orphanet:319195 semapv:UnspecifiedMatching +obo:GARD_21409 Bilateral massive adrenal hemorrhage skos:exactMatch Orphanet:319205 semapv:UnspecifiedMatching +obo:GARD_2141 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:exactMatch Orphanet:79396 semapv:UnspecifiedMatching +obo:GARD_2141 Autosomal dominant generalized epidermolysis bullosa simplex, severe form skos:narrowMatch OMIM:131760 semapv:UnspecifiedMatching +obo:GARD_21410 Lujo hemorrhagic fever skos:exactMatch Orphanet:319213 semapv:UnspecifiedMatching +obo:GARD_21411 Argentine hemorrhagic fever skos:exactMatch Orphanet:319223 semapv:UnspecifiedMatching +obo:GARD_21412 Bolivian hemorrhagic fever skos:exactMatch Orphanet:319229 semapv:UnspecifiedMatching +obo:GARD_21413 Venezuelan hemorrhagic fever skos:exactMatch Orphanet:319234 semapv:UnspecifiedMatching +obo:GARD_21414 Brazilian hemorrhagic fever skos:exactMatch Orphanet:319239 semapv:UnspecifiedMatching +obo:GARD_21415 Chapare hemorrhagic fever skos:exactMatch Orphanet:319244 semapv:UnspecifiedMatching +obo:GARD_21416 Rift valley fever skos:exactMatch Orphanet:319251 semapv:UnspecifiedMatching +obo:GARD_21417 Multilocular cystic renal neoplasm of low malignant potential skos:exactMatch Orphanet:319287 semapv:UnspecifiedMatching +obo:GARD_21418 Mucinous tubular and spindle cell renal carcinoma skos:exactMatch Orphanet:319322 semapv:UnspecifiedMatching +obo:GARD_21419 Tubulocystic renal cell carcinoma skos:exactMatch Orphanet:319325 semapv:UnspecifiedMatching +obo:GARD_21420 Inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 semapv:UnspecifiedMatching +obo:GARD_21421 Familial nonmedullary thyroid carcinoma skos:exactMatch Orphanet:319494 semapv:UnspecifiedMatching +obo:GARD_21422 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 semapv:UnspecifiedMatching +obo:GARD_21423 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 semapv:UnspecifiedMatching +obo:GARD_21424 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 semapv:UnspecifiedMatching +obo:GARD_21425 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319589 semapv:UnspecifiedMatching +obo:GARD_21426 Primary lymphoma of the conjunctiva skos:exactMatch Orphanet:319667 semapv:UnspecifiedMatching +obo:GARD_21427 Autoinflammatory syndrome of childhood skos:exactMatch Orphanet:319719 semapv:UnspecifiedMatching +obo:GARD_21428 X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 semapv:UnspecifiedMatching +obo:GARD_21429 Pure or complex hereditary spastic paraplegia skos:exactMatch Orphanet:320335 semapv:UnspecifiedMatching +obo:GARD_2143 Junctional epidermolysis bullosa inversa skos:exactMatch Orphanet:79405 semapv:UnspecifiedMatching +obo:GARD_2143 Junctional epidermolysis bullosa inversa skos:narrowMatch OMIM:226650 semapv:UnspecifiedMatching +obo:GARD_21430 Pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 semapv:UnspecifiedMatching +obo:GARD_21431 Pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 semapv:UnspecifiedMatching +obo:GARD_21432 Pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 semapv:UnspecifiedMatching +obo:GARD_21433 MT-ATP6-related mitochondrial spastic paraplegia skos:exactMatch Orphanet:320360 semapv:UnspecifiedMatching +obo:GARD_21434 Genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 semapv:UnspecifiedMatching +obo:GARD_21435 Multiple paragangliomas associated with polycythemia skos:exactMatch Orphanet:324299 semapv:UnspecifiedMatching +obo:GARD_21436 Severe lateral tibial bowing with short stature skos:exactMatch Orphanet:324307 semapv:UnspecifiedMatching +obo:GARD_21437 9p13 microdeletion syndrome skos:exactMatch Orphanet:324313 semapv:UnspecifiedMatching +obo:GARD_21438 Congenital achiasma skos:exactMatch Orphanet:324353 semapv:UnspecifiedMatching +obo:GARD_21439 Mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:exactMatch Orphanet:324364 semapv:UnspecifiedMatching +obo:GARD_21440 Hereditary inclusion body myopathy type 4 skos:exactMatch Orphanet:324381 semapv:UnspecifiedMatching +obo:GARD_21441 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:exactMatch Orphanet:324416 semapv:UnspecifiedMatching +obo:GARD_21442 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation skos:exactMatch Orphanet:324525 semapv:UnspecifiedMatching +obo:GARD_21443 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:exactMatch Orphanet:324540 semapv:UnspecifiedMatching +obo:GARD_21444 Hyperinsulinism due to HNF1A deficiency skos:exactMatch Orphanet:324575 semapv:UnspecifiedMatching +obo:GARD_21445 Benign Samaritan congenital myopathy skos:exactMatch Orphanet:324581 semapv:UnspecifiedMatching +obo:GARD_21446 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:exactMatch Orphanet:324585 semapv:UnspecifiedMatching +obo:GARD_21447 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch Orphanet:324611 semapv:UnspecifiedMatching +obo:GARD_21448 Hendra virus infection skos:exactMatch Orphanet:324632 semapv:UnspecifiedMatching +obo:GARD_21449 Invasive non-typhoidal salmonellosis skos:exactMatch Orphanet:324648 semapv:UnspecifiedMatching +obo:GARD_21450 Microcephalic primordial dwarfism skos:exactMatch Orphanet:324761 semapv:UnspecifiedMatching +obo:GARD_21451 Trichorhinophalangeal syndrome skos:exactMatch Orphanet:324764 semapv:UnspecifiedMatching +obo:GARD_21452 Non-familial rare disease with dilated cardiomyopathy skos:exactMatch Orphanet:324767 semapv:UnspecifiedMatching +obo:GARD_21453 Hereditary periodic fever syndrome skos:exactMatch Orphanet:324924 semapv:UnspecifiedMatching +obo:GARD_21454 Pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 semapv:UnspecifiedMatching +obo:GARD_21455 Granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 semapv:UnspecifiedMatching +obo:GARD_21456 Mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 semapv:UnspecifiedMatching +obo:GARD_21457 Unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 semapv:UnspecifiedMatching +obo:GARD_21458 Periodic fever syndrome of childhood skos:exactMatch Orphanet:324939 semapv:UnspecifiedMatching +obo:GARD_21459 Pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 semapv:UnspecifiedMatching +obo:GARD_2146 Localized epidermolysis bullosa simplex skos:exactMatch Orphanet:79400 semapv:UnspecifiedMatching +obo:GARD_2146 Localized epidermolysis bullosa simplex skos:narrowMatch OMIM:131800 semapv:UnspecifiedMatching +obo:GARD_21460 Granulomatous autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324950 semapv:UnspecifiedMatching +obo:GARD_21461 Unclassified autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324953 semapv:UnspecifiedMatching +obo:GARD_21462 Unexplained periodic fever syndrome of childhood skos:exactMatch Orphanet:324960 semapv:UnspecifiedMatching +obo:GARD_21463 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 semapv:UnspecifiedMatching +obo:GARD_21464 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 semapv:UnspecifiedMatching +obo:GARD_21465 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 semapv:UnspecifiedMatching +obo:GARD_21466 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 semapv:UnspecifiedMatching +obo:GARD_21467 Syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 semapv:UnspecifiedMatching +obo:GARD_21468 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 semapv:UnspecifiedMatching +obo:GARD_21469 46,XY ovotesticular disorder of sex development skos:exactMatch Orphanet:325345 semapv:UnspecifiedMatching +obo:GARD_2147 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:exactMatch Orphanet:79399 semapv:UnspecifiedMatching +obo:GARD_2147 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form skos:narrowMatch OMIM:131900 semapv:UnspecifiedMatching +obo:GARD_21470 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 semapv:UnspecifiedMatching +obo:GARD_21471 46,XY disorder of sex development due to impaired androgen production skos:exactMatch Orphanet:325357 semapv:UnspecifiedMatching +obo:GARD_21472 46,XY disorder of sex development due to a cholesterol synthesis defect skos:exactMatch Orphanet:325511 semapv:UnspecifiedMatching +obo:GARD_21473 Classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325524 semapv:UnspecifiedMatching +obo:GARD_21474 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325529 semapv:UnspecifiedMatching +obo:GARD_21475 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors skos:exactMatch Orphanet:325537 semapv:UnspecifiedMatching +obo:GARD_21476 Sex chromosome disorder of sex development skos:exactMatch Orphanet:325546 semapv:UnspecifiedMatching +obo:GARD_21477 Disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 semapv:UnspecifiedMatching +obo:GARD_21478 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 semapv:UnspecifiedMatching +obo:GARD_21479 Syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 semapv:UnspecifiedMatching +obo:GARD_2148 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:79401 semapv:UnspecifiedMatching +obo:GARD_2148 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement skos:narrowMatch OMIM:131950 semapv:UnspecifiedMatching +obo:GARD_21480 Genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 semapv:UnspecifiedMatching +obo:GARD_21481 Genetic disorder of sex development skos:exactMatch Orphanet:325690 semapv:UnspecifiedMatching +obo:GARD_21482 Genetic 46,XX disorder of sex development skos:exactMatch Orphanet:325697 semapv:UnspecifiedMatching +obo:GARD_21483 Genetic 46,XY disorder of sex development skos:exactMatch Orphanet:325706 semapv:UnspecifiedMatching +obo:GARD_21484 Genetic 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325713 semapv:UnspecifiedMatching +obo:GARD_21485 Cerebral sinovenous thrombosis skos:exactMatch Orphanet:329217 semapv:UnspecifiedMatching +obo:GARD_21486 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:exactMatch Orphanet:329249 semapv:UnspecifiedMatching +obo:GARD_21487 Thrombocythemia with distal limb defects skos:exactMatch Orphanet:329319 semapv:UnspecifiedMatching +obo:GARD_21488 Inverse Klippel-Trénaunay syndrome skos:exactMatch Orphanet:329324 semapv:UnspecifiedMatching +obo:GARD_21489 Autosomal recessive frontotemporal pachygyria skos:exactMatch Orphanet:329329 semapv:UnspecifiedMatching +obo:GARD_21490 Acute megakaryoblastic leukemia without Down syndrome skos:exactMatch Orphanet:329469 semapv:UnspecifiedMatching +obo:GARD_21491 Spastic paraplegia-Paget disease of bone syndrome skos:exactMatch Orphanet:329475 semapv:UnspecifiedMatching +obo:GARD_21492 Adult-onset distal myopathy due to VCP mutation skos:exactMatch Orphanet:329478 semapv:UnspecifiedMatching +obo:GARD_21493 Mosaic genome-wide paternal uniparental disomy skos:exactMatch Orphanet:329813 semapv:UnspecifiedMatching +obo:GARD_21494 Idiopathic giant cell myocarditis skos:exactMatch Orphanet:329874 semapv:UnspecifiedMatching +obo:GARD_21495 Non-hypoproteinemic hypertrophic gastropathy skos:exactMatch Orphanet:329883 semapv:UnspecifiedMatching +obo:GARD_21496 Juvenile idiopathic inflammatory myopathy skos:exactMatch Orphanet:329888 semapv:UnspecifiedMatching +obo:GARD_21497 Juvenile overlap myositis skos:exactMatch Orphanet:329894 semapv:UnspecifiedMatching +obo:GARD_21498 Transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:329942 semapv:UnspecifiedMatching +obo:GARD_21499 Intermittent hydrarthrosis skos:exactMatch Orphanet:329967 semapv:UnspecifiedMatching +obo:GARD_215 Familial caudal dysgenesis skos:exactMatch Orphanet:1768 semapv:UnspecifiedMatching +obo:GARD_2150 Dystrophic epidermolysis bullosa skos:exactMatch Orphanet:303 semapv:UnspecifiedMatching +obo:GARD_21500 Classic neuroendocrine tumor of appendix skos:exactMatch Orphanet:329977 semapv:UnspecifiedMatching +obo:GARD_21501 Wild type ATTR amyloidosis skos:exactMatch Orphanet:330001 semapv:UnspecifiedMatching +obo:GARD_21502 High altitude pulmonary edema skos:exactMatch Orphanet:330012 semapv:UnspecifiedMatching +obo:GARD_21503 Lead poisoning skos:exactMatch Orphanet:330015 semapv:UnspecifiedMatching +obo:GARD_21504 Hypotrichosis-deafness syndrome skos:exactMatch Orphanet:330029 semapv:UnspecifiedMatching +obo:GARD_21505 Hemoglobin Lepore-beta-thalassemia syndrome skos:exactMatch Orphanet:330032 semapv:UnspecifiedMatching +obo:GARD_21506 Chronic actinic dermatitis skos:exactMatch Orphanet:330064 semapv:UnspecifiedMatching +obo:GARD_21507 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 semapv:UnspecifiedMatching +obo:GARD_21508 Constitutional neutropenia with extra-hematopoietic manifestations skos:exactMatch Orphanet:331184 semapv:UnspecifiedMatching +obo:GARD_21509 Other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 semapv:UnspecifiedMatching +obo:GARD_21510 Syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 semapv:UnspecifiedMatching +obo:GARD_21511 Immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 semapv:UnspecifiedMatching +obo:GARD_21512 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 semapv:UnspecifiedMatching +obo:GARD_21513 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells skos:exactMatch Orphanet:331240 semapv:UnspecifiedMatching +obo:GARD_21514 Other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 semapv:UnspecifiedMatching +obo:GARD_21515 Immunodeficiency syndrome with hypopigmentation skos:exactMatch Orphanet:331249 semapv:UnspecifiedMatching +obo:GARD_21516 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:exactMatch Orphanet:352301 semapv:UnspecifiedMatching +obo:GARD_21517 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 semapv:UnspecifiedMatching +obo:GARD_21518 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 semapv:UnspecifiedMatching +obo:GARD_21519 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 semapv:UnspecifiedMatching +obo:GARD_2152 Junctional epidermolysis bullosa skos:exactMatch Orphanet:305 semapv:UnspecifiedMatching +obo:GARD_21520 Mitochondrial DNA maintenance syndrome skos:exactMatch Orphanet:352456 semapv:UnspecifiedMatching +obo:GARD_21521 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:exactMatch Orphanet:352530 semapv:UnspecifiedMatching +obo:GARD_21522 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:exactMatch Orphanet:352587 semapv:UnspecifiedMatching +obo:GARD_21523 16q24.1 microdeletion syndrome skos:exactMatch Orphanet:352629 semapv:UnspecifiedMatching +obo:GARD_21524 Phalangeal microgeodic syndrome skos:exactMatch Orphanet:352636 semapv:UnspecifiedMatching +obo:GARD_21525 Autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch Orphanet:352641 semapv:UnspecifiedMatching +obo:GARD_21526 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion skos:exactMatch Orphanet:352665 semapv:UnspecifiedMatching +obo:GARD_21527 Attenuated Chédiak-Higashi syndrome skos:exactMatch Orphanet:352723 semapv:UnspecifiedMatching +obo:GARD_21528 Disorder of melanin metabolism skos:exactMatch Orphanet:352728 semapv:UnspecifiedMatching +obo:GARD_21529 Minimal pigment oculocutaneous albinism type 1 skos:exactMatch Orphanet:352734 semapv:UnspecifiedMatching +obo:GARD_2153 Severe generalized junctional epidermolysis bullosa skos:exactMatch Orphanet:79404 semapv:UnspecifiedMatching +obo:GARD_2153 Severe generalized junctional epidermolysis bullosa skos:narrowMatch OMIM:226700 semapv:UnspecifiedMatching +obo:GARD_21530 Congenital retinal arteriovenous communication skos:exactMatch Orphanet:353334 semapv:UnspecifiedMatching +obo:GARD_21531 Idiopathic macular telangiectasia type 1 skos:exactMatch Orphanet:353344 semapv:UnspecifiedMatching +obo:GARD_21532 Idiopathic macular telangiectasia type 3 skos:exactMatch Orphanet:353351 semapv:UnspecifiedMatching +obo:GARD_21533 Vasoproliferative tumor of the retina skos:exactMatch Orphanet:353356 semapv:UnspecifiedMatching +obo:GARD_21534 3q26q27 microdeletion syndrome skos:exactMatch Orphanet:356947 semapv:UnspecifiedMatching +obo:GARD_21535 Arterial thoracic outlet syndrome skos:exactMatch Orphanet:357107 semapv:UnspecifiedMatching +obo:GARD_21536 Venous thoracic outlet syndrome skos:exactMatch Orphanet:357131 semapv:UnspecifiedMatching +obo:GARD_21537 Primary essential cutis verticis gyrata skos:exactMatch Orphanet:357220 semapv:UnspecifiedMatching +obo:GARD_21538 Primary non-essential cutis verticis gyrata skos:exactMatch Orphanet:357225 semapv:UnspecifiedMatching +obo:GARD_21539 Idiopathic nephrotic syndrome skos:exactMatch Orphanet:357502 semapv:UnspecifiedMatching +obo:GARD_21540 Genetic non-syndromic renal or urinary tract malformation skos:exactMatch Orphanet:357506 semapv:UnspecifiedMatching +obo:GARD_21541 Congenital anomaly of the great veins skos:exactMatch Orphanet:363189 semapv:UnspecifiedMatching +obo:GARD_21542 Ring chromosome skos:exactMatch Orphanet:363203 semapv:UnspecifiedMatching +obo:GARD_21543 Genetic progeroid syndrome skos:exactMatch Orphanet:363245 semapv:UnspecifiedMatching +obo:GARD_21544 Ciliopathy skos:exactMatch Orphanet:363250 semapv:UnspecifiedMatching +obo:GARD_21545 Genetic syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 semapv:UnspecifiedMatching +obo:GARD_21546 Genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 semapv:UnspecifiedMatching +obo:GARD_21547 Genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 semapv:UnspecifiedMatching +obo:GARD_21548 Genetic intestinal polyposis skos:exactMatch Orphanet:363314 semapv:UnspecifiedMatching +obo:GARD_21549 Tumor of testis and paratestis skos:exactMatch Orphanet:363472 semapv:UnspecifiedMatching +obo:GARD_2155 Localized dystrophic epidermolysis bullosa, pretibial form skos:exactMatch Orphanet:79410 semapv:UnspecifiedMatching +obo:GARD_2155 Localized dystrophic epidermolysis bullosa, pretibial form skos:narrowMatch OMIM:131850 semapv:UnspecifiedMatching +obo:GARD_21550 Paratesticular adenocarcinoma skos:exactMatch Orphanet:363478 semapv:UnspecifiedMatching +obo:GARD_21551 Sex cord-stromal tumor of testis skos:exactMatch Orphanet:363489 semapv:UnspecifiedMatching +obo:GARD_21552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch Orphanet:363549 semapv:UnspecifiedMatching +obo:GARD_21553 Acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 semapv:UnspecifiedMatching +obo:GARD_21554 Gonadal germ cell tumor skos:exactMatch Orphanet:363582 semapv:UnspecifiedMatching +obo:GARD_21555 LMNA-related cardiocutaneous progeria syndrome skos:exactMatch Orphanet:363618 semapv:UnspecifiedMatching +obo:GARD_21556 20q11.2 microduplication syndrome skos:exactMatch Orphanet:363659 semapv:UnspecifiedMatching +obo:GARD_21557 2p13.2 microdeletion syndrome skos:exactMatch Orphanet:363680 semapv:UnspecifiedMatching +obo:GARD_21558 Balint syndrome skos:exactMatch Orphanet:363746 semapv:UnspecifiedMatching +obo:GARD_21559 Koolen-De Vries syndrome due to a point mutation skos:exactMatch Orphanet:363965 semapv:UnspecifiedMatching +obo:GARD_21560 Autosomal recessive cerebral atrophy skos:exactMatch Orphanet:363969 semapv:UnspecifiedMatching +obo:GARD_21561 Immune hydrops fetalis skos:exactMatch Orphanet:364013 semapv:UnspecifiedMatching +obo:GARD_21562 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch Orphanet:364033 semapv:UnspecifiedMatching +obo:GARD_21563 Hydroa vacciniforme-like lymphoma skos:exactMatch Orphanet:364039 semapv:UnspecifiedMatching +obo:GARD_21564 ALK-positive large B-cell lymphoma skos:exactMatch Orphanet:364043 semapv:UnspecifiedMatching +obo:GARD_21565 Severe early-childhood-onset retinal dystrophy skos:exactMatch Orphanet:364055 semapv:UnspecifiedMatching +obo:GARD_21566 Bipartite talus skos:exactMatch Orphanet:364198 semapv:UnspecifiedMatching +obo:GARD_21567 Primary bone dysplasia skos:exactMatch Orphanet:364526 semapv:UnspecifiedMatching +obo:GARD_21568 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 semapv:UnspecifiedMatching +obo:GARD_21569 Primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 semapv:UnspecifiedMatching +obo:GARD_21570 Otopalatodigital syndrome spectrum disorder skos:exactMatch Orphanet:364541 semapv:UnspecifiedMatching +obo:GARD_21571 Dysostosis skos:exactMatch Orphanet:364559 semapv:UnspecifiedMatching +obo:GARD_21572 Dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 semapv:UnspecifiedMatching +obo:GARD_21573 Dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 semapv:UnspecifiedMatching +obo:GARD_21574 Acrofacial dysostosis skos:exactMatch Orphanet:364574 semapv:UnspecifiedMatching +obo:GARD_21575 Rare bone disease related to a common gene or pathway defect skos:exactMatch Orphanet:364803 semapv:UnspecifiedMatching +obo:GARD_21576 Aggrecan-related bone disorder skos:exactMatch Orphanet:364817 semapv:UnspecifiedMatching +obo:GARD_21577 TRPV4-related bone disorder skos:exactMatch Orphanet:364820 semapv:UnspecifiedMatching +obo:GARD_21578 Primary short bowel syndrome skos:exactMatch Orphanet:365563 semapv:UnspecifiedMatching +obo:GARD_21579 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:exactMatch Orphanet:369847 semapv:UnspecifiedMatching +obo:GARD_21580 Obesity due to SIM1 deficiency skos:exactMatch Orphanet:369873 semapv:UnspecifiedMatching +obo:GARD_21581 2p21 microdeletion syndrome without cystinuria skos:exactMatch Orphanet:369881 semapv:UnspecifiedMatching +obo:GARD_21582 Homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 semapv:UnspecifiedMatching +obo:GARD_21583 Intellectual disability-seizures-macrocephaly-obesity syndrome skos:exactMatch Orphanet:369950 semapv:UnspecifiedMatching +obo:GARD_21584 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome skos:exactMatch Orphanet:369979 semapv:UnspecifiedMatching +obo:GARD_21585 Intellectual disability-facial dysmorphism-hand anomalies syndrome skos:exactMatch Orphanet:370010 semapv:UnspecifiedMatching +obo:GARD_21586 Spondyloepimetaphyseal dysplasia, Isidor type skos:exactMatch Orphanet:370015 semapv:UnspecifiedMatching +obo:GARD_21587 Spondylometaphyseal dysplasia, Czarny-Ratajczak type skos:exactMatch Orphanet:370019 semapv:UnspecifiedMatching +obo:GARD_21588 Acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch Orphanet:370026 semapv:UnspecifiedMatching +obo:GARD_21589 Familial syringomyelia skos:exactMatch Orphanet:370034 semapv:UnspecifiedMatching +obo:GARD_21590 Angora hair nevus skos:exactMatch Orphanet:370039 semapv:UnspecifiedMatching +obo:GARD_21591 Didymosis aplasticosebacea skos:exactMatch Orphanet:370046 semapv:UnspecifiedMatching +obo:GARD_21592 SCALP syndrome skos:exactMatch Orphanet:370052 semapv:UnspecifiedMatching +obo:GARD_21593 NEVADA syndrome skos:exactMatch Orphanet:370059 semapv:UnspecifiedMatching +obo:GARD_21594 Fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 semapv:UnspecifiedMatching +obo:GARD_21595 Fetal carbamazepine syndrome skos:exactMatch Orphanet:370076 semapv:UnspecifiedMatching +obo:GARD_21596 Rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 semapv:UnspecifiedMatching +obo:GARD_21597 Ataxia-telangiectasia variant skos:exactMatch Orphanet:370109 semapv:UnspecifiedMatching +obo:GARD_21598 Medich giant platelet syndrome skos:exactMatch Orphanet:370127 semapv:UnspecifiedMatching +obo:GARD_21599 XYLT1-CDG skos:exactMatch Orphanet:370930 semapv:UnspecifiedMatching +obo:GARD_216 Camptodactyly-joint contractures-facial skeletal defects syndrome skos:exactMatch Orphanet:1323 semapv:UnspecifiedMatching +obo:GARD_216 Camptodactyly-joint contractures-facial skeletal defects syndrome skos:narrowMatch OMIM:602612 semapv:UnspecifiedMatching +obo:GARD_21600 Congenital muscular dystrophy with hyperlaxity skos:exactMatch Orphanet:371007 semapv:UnspecifiedMatching +obo:GARD_21601 Qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371024 semapv:UnspecifiedMatching +obo:GARD_21602 Primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 semapv:UnspecifiedMatching +obo:GARD_21603 Congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 semapv:UnspecifiedMatching +obo:GARD_21604 Congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 semapv:UnspecifiedMatching +obo:GARD_21605 Congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 semapv:UnspecifiedMatching +obo:GARD_21606 Congenital disorder of glycosylation with dilated cardiomyopathy skos:exactMatch Orphanet:371176 semapv:UnspecifiedMatching +obo:GARD_21607 Congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 semapv:UnspecifiedMatching +obo:GARD_21608 Congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 semapv:UnspecifiedMatching +obo:GARD_21609 Congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 semapv:UnspecifiedMatching +obo:GARD_21610 Congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 semapv:UnspecifiedMatching +obo:GARD_21611 Congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 semapv:UnspecifiedMatching +obo:GARD_21612 Congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 semapv:UnspecifiedMatching +obo:GARD_21613 Genetic periodic paralysis skos:exactMatch Orphanet:371433 semapv:UnspecifiedMatching +obo:GARD_21614 Genetic neurovascular malformation skos:exactMatch Orphanet:371436 semapv:UnspecifiedMatching +obo:GARD_21615 Sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 semapv:UnspecifiedMatching +obo:GARD_21616 Genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 semapv:UnspecifiedMatching +obo:GARD_21617 Genetic hyperaldosteronism skos:exactMatch Orphanet:371861 semapv:UnspecifiedMatching +obo:GARD_21618 Generalized isolated dystonia skos:exactMatch Orphanet:376724 semapv:UnspecifiedMatching +obo:GARD_21619 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:exactMatch Orphanet:391316 semapv:UnspecifiedMatching +obo:GARD_2162 Juvenile absence epilepsy skos:exactMatch Orphanet:1941 semapv:UnspecifiedMatching +obo:GARD_2162 Juvenile absence epilepsy skos:narrowMatch OMIM:607631 semapv:UnspecifiedMatching +obo:GARD_21620 Fatal post-viral neurodegenerative disorder skos:exactMatch Orphanet:391343 semapv:UnspecifiedMatching +obo:GARD_21621 Growth retardation-mild developmental delay-chronic hepatitis syndrome skos:exactMatch Orphanet:391366 semapv:UnspecifiedMatching +obo:GARD_21622 Disorder of asparagine metabolism skos:exactMatch Orphanet:391381 semapv:UnspecifiedMatching +obo:GARD_21623 Adult-onset myasthenia gravis skos:exactMatch Orphanet:391490 semapv:UnspecifiedMatching +obo:GARD_21624 Juvenile myasthenia gravis skos:exactMatch Orphanet:391497 semapv:UnspecifiedMatching +obo:GARD_21625 Transient neonatal myasthenia gravis skos:exactMatch Orphanet:391504 semapv:UnspecifiedMatching +obo:GARD_21626 Glomus tumor skos:exactMatch Orphanet:391651 semapv:UnspecifiedMatching +obo:GARD_21627 Off-periods in Parkinson disease not responding to oral treatment skos:exactMatch Orphanet:391655 semapv:UnspecifiedMatching +obo:GARD_21628 Persistent combined dystonia skos:exactMatch Orphanet:391711 semapv:UnspecifiedMatching +obo:GARD_21629 Mucinous adenocarcinoma of the appendix skos:exactMatch Orphanet:391723 semapv:UnspecifiedMatching +obo:GARD_21630 Rare genetic dystonia skos:exactMatch Orphanet:391799 semapv:UnspecifiedMatching +obo:GARD_21631 Deep dermatophytosis skos:exactMatch Orphanet:397587 semapv:UnspecifiedMatching +obo:GARD_21632 PrP systemic amyloidosis skos:exactMatch Orphanet:397606 semapv:UnspecifiedMatching +obo:GARD_21633 3q27.3 microdeletion syndrome skos:exactMatch Orphanet:397695 semapv:UnspecifiedMatching +obo:GARD_21634 Periodic paralysis with later-onset distal motor neuropathy skos:exactMatch Orphanet:397750 semapv:UnspecifiedMatching +obo:GARD_21635 Periodic paralysis with transient compartment-like syndrome skos:exactMatch Orphanet:397755 semapv:UnspecifiedMatching +obo:GARD_21636 T+ B+ severe combined immunodeficiency skos:exactMatch Orphanet:397802 semapv:UnspecifiedMatching +obo:GARD_21637 Ferro-cerebro-cutaneous syndrome skos:exactMatch Orphanet:397922 semapv:UnspecifiedMatching +obo:GARD_21638 Adenocarcinoma of the penis skos:exactMatch Orphanet:398053 semapv:UnspecifiedMatching +obo:GARD_21639 Squamous cell carcinoma of the penis skos:exactMatch Orphanet:398058 semapv:UnspecifiedMatching +obo:GARD_21640 Refractory celiac disease skos:exactMatch Orphanet:398063 semapv:UnspecifiedMatching +obo:GARD_21641 Prader-Willi-like syndrome skos:exactMatch Orphanet:398073 semapv:UnspecifiedMatching +obo:GARD_21642 SIM1-related Prader-Willi-like syndrome skos:exactMatch Orphanet:398079 semapv:UnspecifiedMatching +obo:GARD_21643 Secondary neonatal autoimmune disease skos:exactMatch Orphanet:398091 semapv:UnspecifiedMatching +obo:GARD_21644 Neonatal antiphospholipid syndrome skos:exactMatch Orphanet:398097 semapv:UnspecifiedMatching +obo:GARD_21645 Neonatal autoimmune hemolytic anemia skos:exactMatch Orphanet:398109 semapv:UnspecifiedMatching +obo:GARD_21646 Neonatal dermatomyositis skos:exactMatch Orphanet:398117 semapv:UnspecifiedMatching +obo:GARD_21647 Neonatal lupus erythematosus skos:exactMatch Orphanet:398124 semapv:UnspecifiedMatching +obo:GARD_21648 Neonatal scleroderma skos:exactMatch Orphanet:398127 semapv:UnspecifiedMatching +obo:GARD_21649 Persistent idiopathic facial pain skos:exactMatch Orphanet:398147 semapv:UnspecifiedMatching +obo:GARD_21650 Malignant non-epithelial tumor of ovary skos:exactMatch Orphanet:398940 semapv:UnspecifiedMatching +obo:GARD_21651 Mucinous adenocarcinoma of ovary skos:exactMatch Orphanet:398961 semapv:UnspecifiedMatching +obo:GARD_21652 Clear cell adenocarcinoma of the ovary skos:exactMatch Orphanet:398971 semapv:UnspecifiedMatching +obo:GARD_21653 Primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching +obo:GARD_21654 Malignant teratoma of ovary skos:exactMatch Orphanet:398987 semapv:UnspecifiedMatching +obo:GARD_21655 KLHL9-related early-onset distal myopathy skos:exactMatch Orphanet:399081 semapv:UnspecifiedMatching +obo:GARD_21656 Distal nebulin myopathy skos:exactMatch Orphanet:399103 semapv:UnspecifiedMatching +obo:GARD_21657 Osteonecrosis skos:exactMatch Orphanet:399158 semapv:UnspecifiedMatching +obo:GARD_21658 Avascular necrosis skos:exactMatch Orphanet:399164 semapv:UnspecifiedMatching +obo:GARD_21659 Secondary avascular necrosis skos:exactMatch Orphanet:399169 semapv:UnspecifiedMatching +obo:GARD_2166 Celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch Orphanet:1459 semapv:UnspecifiedMatching +obo:GARD_2166 Celiac disease-epilepsy-cerebral calcification syndrome skos:narrowMatch OMIM:226810 semapv:UnspecifiedMatching +obo:GARD_21660 Traumatic avascular necrosis skos:exactMatch Orphanet:399175 semapv:UnspecifiedMatching +obo:GARD_21661 Secondary non-traumatic avascular necrosis skos:exactMatch Orphanet:399180 semapv:UnspecifiedMatching +obo:GARD_21662 Rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 semapv:UnspecifiedMatching +obo:GARD_21663 Osteonecrosis of the jaw skos:exactMatch Orphanet:399293 semapv:UnspecifiedMatching +obo:GARD_21664 Primary avascular necrosis skos:exactMatch Orphanet:399302 semapv:UnspecifiedMatching +obo:GARD_21665 Idiopathic avascular necrosis skos:exactMatch Orphanet:399307 semapv:UnspecifiedMatching +obo:GARD_21666 Epiphysiolysis of the hip skos:exactMatch Orphanet:399329 semapv:UnspecifiedMatching +obo:GARD_21667 Osteonecrosis of genetic origin skos:exactMatch Orphanet:399380 semapv:UnspecifiedMatching +obo:GARD_21668 Avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 semapv:UnspecifiedMatching +obo:GARD_21669 Osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 semapv:UnspecifiedMatching +obo:GARD_2167 Progressive myoclonic epilepsy type 3 skos:exactMatch Orphanet:263516 semapv:UnspecifiedMatching +obo:GARD_2167 Progressive myoclonic epilepsy type 3 skos:narrowMatch OMIM:611726 semapv:UnspecifiedMatching +obo:GARD_21670 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 semapv:UnspecifiedMatching +obo:GARD_21671 Rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 semapv:UnspecifiedMatching +obo:GARD_21672 Rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 semapv:UnspecifiedMatching +obo:GARD_21673 Male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 semapv:UnspecifiedMatching +obo:GARD_21674 Male infertility due to sperm disorder skos:exactMatch Orphanet:399771 semapv:UnspecifiedMatching +obo:GARD_21675 Male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 semapv:UnspecifiedMatching +obo:GARD_21676 Male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 semapv:UnspecifiedMatching +obo:GARD_21677 Rare disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 semapv:UnspecifiedMatching +obo:GARD_21678 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 semapv:UnspecifiedMatching +obo:GARD_21679 Rare female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 semapv:UnspecifiedMatching +obo:GARD_2168 Epilepsy-telangiectasia syndrome skos:exactMatch Orphanet:1951 semapv:UnspecifiedMatching +obo:GARD_2168 Epilepsy-telangiectasia syndrome skos:narrowMatch OMIM:226850 semapv:UnspecifiedMatching +obo:GARD_21680 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 semapv:UnspecifiedMatching +obo:GARD_21681 Rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 semapv:UnspecifiedMatching +obo:GARD_21682 Rare female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 semapv:UnspecifiedMatching +obo:GARD_21683 Rare female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 semapv:UnspecifiedMatching +obo:GARD_21684 Rare female infertility due to an implantation defect skos:exactMatch Orphanet:399882 semapv:UnspecifiedMatching +obo:GARD_21685 Rare genetic male infertility skos:exactMatch Orphanet:399980 semapv:UnspecifiedMatching +obo:GARD_21686 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 semapv:UnspecifiedMatching +obo:GARD_21687 Rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 semapv:UnspecifiedMatching +obo:GARD_21688 Male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 semapv:UnspecifiedMatching +obo:GARD_21689 Rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 semapv:UnspecifiedMatching +obo:GARD_2169 Myoclonic-astatic epilepsy skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching +obo:GARD_2169 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:615369 semapv:UnspecifiedMatching +obo:GARD_2169 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:616421 semapv:UnspecifiedMatching +obo:GARD_2169 Myoclonic-astatic epilepsy skos:narrowMatch OMIM:618587 semapv:UnspecifiedMatching +obo:GARD_21690 Rare genetic female infertility skos:exactMatch Orphanet:400008 semapv:UnspecifiedMatching +obo:GARD_21691 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 semapv:UnspecifiedMatching +obo:GARD_21692 Rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 semapv:UnspecifiedMatching +obo:GARD_21693 Rare female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 semapv:UnspecifiedMatching +obo:GARD_21694 Female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 semapv:UnspecifiedMatching +obo:GARD_21695 Autosomal recessive spastic paraplegia type 59 skos:exactMatch Orphanet:401795 semapv:UnspecifiedMatching +obo:GARD_21696 Autosomal recessive spastic paraplegia type 60 skos:exactMatch Orphanet:401800 semapv:UnspecifiedMatching +obo:GARD_21697 Autosomal recessive spastic paraplegia type 66 skos:exactMatch Orphanet:401815 semapv:UnspecifiedMatching +obo:GARD_21698 Autosomal recessive spastic paraplegia type 67 skos:exactMatch Orphanet:401820 semapv:UnspecifiedMatching +obo:GARD_21699 Autosomal recessive spastic paraplegia type 69 skos:exactMatch Orphanet:401830 semapv:UnspecifiedMatching +obo:GARD_2170 Benign occipital epilepsy skos:exactMatch Orphanet:25968 semapv:UnspecifiedMatching +obo:GARD_2170 Benign occipital epilepsy skos:narrowMatch OMIM:132090 semapv:UnspecifiedMatching +obo:GARD_21700 Autosomal recessive spastic paraplegia type 70 skos:exactMatch Orphanet:401835 semapv:UnspecifiedMatching +obo:GARD_21701 Autosomal recessive spastic paraplegia type 71 skos:exactMatch Orphanet:401840 semapv:UnspecifiedMatching +obo:GARD_21702 Huntington disease-like syndrome due to C9ORF72 expansions skos:exactMatch Orphanet:401901 semapv:UnspecifiedMatching +obo:GARD_21703 AXIN2-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:401911 semapv:UnspecifiedMatching +obo:GARD_21704 Fibrolamellar hepatocellular carcinoma skos:exactMatch Orphanet:401920 semapv:UnspecifiedMatching +obo:GARD_21705 9q31.1q31.3 microdeletion syndrome skos:exactMatch Orphanet:401923 semapv:UnspecifiedMatching +obo:GARD_21706 14q24.1q24.3 microdeletion syndrome skos:exactMatch Orphanet:401935 semapv:UnspecifiedMatching +obo:GARD_21707 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:exactMatch Orphanet:401959 semapv:UnspecifiedMatching +obo:GARD_21708 Cold-induced sweating syndrome-hyperthermia spectrum skos:exactMatch Orphanet:401993 semapv:UnspecifiedMatching +obo:GARD_21709 Lichen myxedematosus skos:exactMatch Orphanet:402007 semapv:UnspecifiedMatching +obo:GARD_21710 Acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch Orphanet:402014 semapv:UnspecifiedMatching +obo:GARD_21711 Acute myeloid leukemia with t(9;11)(p22;q23) skos:exactMatch Orphanet:402017 semapv:UnspecifiedMatching +obo:GARD_21712 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch Orphanet:402023 semapv:UnspecifiedMatching +obo:GARD_21713 Acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch Orphanet:402026 semapv:UnspecifiedMatching +obo:GARD_21714 Primary eosinophilic gastrointestinal disease skos:exactMatch Orphanet:402029 semapv:UnspecifiedMatching +obo:GARD_21715 Eosinophilic colitis skos:exactMatch Orphanet:402035 semapv:UnspecifiedMatching +obo:GARD_21716 Hepatitis delta skos:exactMatch Orphanet:402823 semapv:UnspecifiedMatching +obo:GARD_21717 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:exactMatch Orphanet:404451 semapv:UnspecifiedMatching +obo:GARD_21718 Rare female infertility due to oocyte maturation defect skos:exactMatch Orphanet:404469 semapv:UnspecifiedMatching +obo:GARD_21719 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome skos:exactMatch Orphanet:404481 semapv:UnspecifiedMatching +obo:GARD_21720 Chondromyxoid fibroma skos:exactMatch Orphanet:404507 semapv:UnspecifiedMatching +obo:GARD_21721 Clear cell papillary renal cell carcinoma skos:exactMatch Orphanet:404511 semapv:UnspecifiedMatching +obo:GARD_21722 Acquired cystic disease-associated renal cell carcinoma skos:exactMatch Orphanet:404514 semapv:UnspecifiedMatching +obo:GARD_21723 Spinal muscular atrophy with respiratory distress type 2 skos:exactMatch Orphanet:404521 semapv:UnspecifiedMatching +obo:GARD_21724 X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 semapv:UnspecifiedMatching +obo:GARD_21725 Dysostosis of genetic origin skos:exactMatch Orphanet:404568 semapv:UnspecifiedMatching +obo:GARD_21726 Dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 semapv:UnspecifiedMatching +obo:GARD_21727 Genetic syndrome with limb reduction defects skos:exactMatch Orphanet:404574 semapv:UnspecifiedMatching +obo:GARD_21728 Genetic syndrome with limb malformations as a major feature skos:exactMatch Orphanet:404577 semapv:UnspecifiedMatching +obo:GARD_21729 Polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:404580 semapv:UnspecifiedMatching +obo:GARD_2173 Familial partial epilepsy skos:exactMatch Orphanet:309 semapv:UnspecifiedMatching +obo:GARD_21730 Rare genetic bone development disorder skos:exactMatch Orphanet:404584 semapv:UnspecifiedMatching +obo:GARD_21731 Williams-Campbell syndrome skos:exactMatch Orphanet:411501 semapv:UnspecifiedMatching +obo:GARD_21732 Angelman syndrome due to a point mutation skos:exactMatch Orphanet:411511 semapv:UnspecifiedMatching +obo:GARD_21733 Angelman syndrome due to imprinting defect in 15q11-q13 skos:exactMatch Orphanet:411515 semapv:UnspecifiedMatching +obo:GARD_21734 Central retinal vein occlusion skos:exactMatch Orphanet:411527 semapv:UnspecifiedMatching +obo:GARD_21735 Proton-pump inhibitor-responsive esophageal eosinophilia skos:exactMatch Orphanet:411696 semapv:UnspecifiedMatching +obo:GARD_21736 Generalized eruptive keratoacanthoma skos:exactMatch Orphanet:411777 semapv:UnspecifiedMatching +obo:GARD_21737 13q12.3 microdeletion syndrome skos:exactMatch Orphanet:412035 semapv:UnspecifiedMatching +obo:GARD_21738 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:exactMatch Orphanet:412066 semapv:UnspecifiedMatching +obo:GARD_21739 Dystonia-aphonia syndrome skos:exactMatch Orphanet:412217 semapv:UnspecifiedMatching +obo:GARD_21740 Genetic facial cleft skos:exactMatch Orphanet:414726 semapv:UnspecifiedMatching +obo:GARD_21741 Carcinoma of esophagus, salivary gland type skos:exactMatch Orphanet:418945 semapv:UnspecifiedMatching +obo:GARD_21742 Undifferentiated carcinoma of esophagus skos:exactMatch Orphanet:418951 semapv:UnspecifiedMatching +obo:GARD_21743 Squamous cell carcinoma of the stomach skos:exactMatch Orphanet:418959 semapv:UnspecifiedMatching +obo:GARD_21744 Secondary pulmonary alveolar proteinosis skos:exactMatch Orphanet:420259 semapv:UnspecifiedMatching +obo:GARD_21745 Semicircular canal dehiscence syndrome skos:exactMatch Orphanet:420402 semapv:UnspecifiedMatching +obo:GARD_21746 Glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch Orphanet:420429 semapv:UnspecifiedMatching +obo:GARD_21747 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:exactMatch Orphanet:420699 semapv:UnspecifiedMatching +obo:GARD_21748 Rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 semapv:UnspecifiedMatching +obo:GARD_21749 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch Orphanet:420789 semapv:UnspecifiedMatching +obo:GARD_21750 Cono-spondylar dysplasia skos:exactMatch Orphanet:420794 semapv:UnspecifiedMatching +obo:GARD_21751 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:423306 semapv:UnspecifiedMatching +obo:GARD_21752 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:exactMatch Orphanet:423479 semapv:UnspecifiedMatching +obo:GARD_21753 ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 semapv:UnspecifiedMatching +obo:GARD_21754 Rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 semapv:UnspecifiedMatching +obo:GARD_21755 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:exactMatch Orphanet:423693 semapv:UnspecifiedMatching +obo:GARD_21756 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:exactMatch Orphanet:423712 semapv:UnspecifiedMatching +obo:GARD_21757 Rare carcinoma of stomach skos:exactMatch Orphanet:423771 semapv:UnspecifiedMatching +obo:GARD_21758 Hereditary gastric cancer skos:exactMatch Orphanet:423776 semapv:UnspecifiedMatching +obo:GARD_21759 Undifferentiated carcinoma of stomach skos:exactMatch Orphanet:423786 semapv:UnspecifiedMatching +obo:GARD_21760 Rare tumor of small intestine skos:exactMatch Orphanet:423793 semapv:UnspecifiedMatching +obo:GARD_21761 Mesenchymal tumor of small intestine skos:exactMatch Orphanet:423798 semapv:UnspecifiedMatching +obo:GARD_21762 Microcephaly-complex motor and sensory axonal neuropathy syndrome skos:exactMatch Orphanet:423894 semapv:UnspecifiedMatching +obo:GARD_21763 Rare carcinoma of small intestine skos:exactMatch Orphanet:423957 semapv:UnspecifiedMatching +obo:GARD_21764 Squamous cell carcinoma of the small intestine skos:exactMatch Orphanet:423968 semapv:UnspecifiedMatching +obo:GARD_21765 Neuroendocrine tumor of the small intestine skos:exactMatch Orphanet:423975 semapv:UnspecifiedMatching +obo:GARD_21766 Epithelial tumor of the appendix skos:exactMatch Orphanet:423982 semapv:UnspecifiedMatching +obo:GARD_21767 Rare epithelial tumor of colon skos:exactMatch Orphanet:423991 semapv:UnspecifiedMatching +obo:GARD_21768 Squamous cell carcinoma of the colon skos:exactMatch Orphanet:423994 semapv:UnspecifiedMatching +obo:GARD_21769 Rare epithelial tumor of rectum skos:exactMatch Orphanet:423998 semapv:UnspecifiedMatching +obo:GARD_21770 Squamous cell carcinoma of the rectum skos:exactMatch Orphanet:424002 semapv:UnspecifiedMatching +obo:GARD_21771 Epithelial tumor of anal canal skos:exactMatch Orphanet:424010 semapv:UnspecifiedMatching +obo:GARD_21772 Carcinoma of the anal canal skos:exactMatch Orphanet:424013 semapv:UnspecifiedMatching +obo:GARD_21773 Adenocarcinoma of the anal canal skos:exactMatch Orphanet:424016 semapv:UnspecifiedMatching +obo:GARD_21774 Squamous cell carcinoma of the anal canal skos:exactMatch Orphanet:424019 semapv:UnspecifiedMatching +obo:GARD_21775 Rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 semapv:UnspecifiedMatching +obo:GARD_21776 Squamous cell carcinoma of pancreas skos:exactMatch Orphanet:424039 semapv:UnspecifiedMatching +obo:GARD_21777 Acinar cell carcinoma of pancreas skos:exactMatch Orphanet:424046 semapv:UnspecifiedMatching +obo:GARD_21778 Mucinous cystadenocarcinoma of the pancreas skos:exactMatch Orphanet:424053 semapv:UnspecifiedMatching +obo:GARD_21779 Intraductal papillary mucinous carcinoma of pancreas skos:exactMatch Orphanet:424058 semapv:UnspecifiedMatching +obo:GARD_2178 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:1825 semapv:UnspecifiedMatching +obo:GARD_21780 Solid pseudopapillary carcinoma of pancreas skos:exactMatch Orphanet:424065 semapv:UnspecifiedMatching +obo:GARD_21781 Serous cystadenocarcinoma of pancreas skos:exactMatch Orphanet:424073 semapv:UnspecifiedMatching +obo:GARD_21782 Osteoclastic giant cell tumor of pancreas skos:exactMatch Orphanet:424080 semapv:UnspecifiedMatching +obo:GARD_21783 Congenital myopathy with myasthenic-like onset skos:exactMatch Orphanet:424107 semapv:UnspecifiedMatching +obo:GARD_21784 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 semapv:UnspecifiedMatching +obo:GARD_21785 Rare malignant epithelial tumor of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424933 semapv:UnspecifiedMatching +obo:GARD_21786 Carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424936 semapv:UnspecifiedMatching +obo:GARD_21787 Adenocarcinoma of the liver and intrahepatic biliary tract skos:exactMatch Orphanet:424943 semapv:UnspecifiedMatching +obo:GARD_21788 Undifferentiated carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424970 semapv:UnspecifiedMatching +obo:GARD_21789 Squamous cell carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424975 semapv:UnspecifiedMatching +obo:GARD_21790 Biliary cystadenocarcinoma skos:exactMatch Orphanet:424982 semapv:UnspecifiedMatching +obo:GARD_21791 Adenocarcinoma of the gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424991 semapv:UnspecifiedMatching +obo:GARD_21792 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424996 semapv:UnspecifiedMatching +obo:GARD_21793 Inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 semapv:UnspecifiedMatching +obo:GARD_21794 Rare epithelial tumor of small intestine skos:exactMatch Orphanet:425368 semapv:UnspecifiedMatching +obo:GARD_21795 Primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 semapv:UnspecifiedMatching +obo:GARD_21796 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 semapv:UnspecifiedMatching +obo:GARD_21797 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 semapv:UnspecifiedMatching +obo:GARD_21798 Patent urachus skos:exactMatch Orphanet:431341 semapv:UnspecifiedMatching +obo:GARD_21799 Urachal sinus skos:exactMatch Orphanet:431344 semapv:UnspecifiedMatching +obo:GARD_218 Rotor syndrome skos:exactMatch Orphanet:3111 semapv:UnspecifiedMatching +obo:GARD_218 Rotor syndrome skos:narrowMatch OMIM:237450 semapv:UnspecifiedMatching +obo:GARD_2180 Multiple epiphyseal dysplasia type 1 skos:exactMatch Orphanet:93308 semapv:UnspecifiedMatching +obo:GARD_2180 Multiple epiphyseal dysplasia type 1 skos:narrowMatch OMIM:132400 semapv:UnspecifiedMatching +obo:GARD_21800 Urachal diverticulum skos:exactMatch Orphanet:431347 semapv:UnspecifiedMatching +obo:GARD_21801 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch Orphanet:431353 semapv:UnspecifiedMatching +obo:GARD_21802 Rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 semapv:UnspecifiedMatching +obo:GARD_21803 Syndrome with woolly hair skos:exactMatch Orphanet:434809 semapv:UnspecifiedMatching +obo:GARD_21804 Fetal lower urinary tract obstruction skos:exactMatch Orphanet:435365 semapv:UnspecifiedMatching +obo:GARD_21805 Anterior urethral valve skos:exactMatch Orphanet:435372 semapv:UnspecifiedMatching +obo:GARD_21806 Genetic precocious puberty skos:exactMatch Orphanet:435554 semapv:UnspecifiedMatching +obo:GARD_21807 Precocious puberty in female skos:exactMatch Orphanet:435561 semapv:UnspecifiedMatching +obo:GARD_21808 Genetic precocious puberty in female skos:exactMatch Orphanet:435564 semapv:UnspecifiedMatching +obo:GARD_21809 Genetic otorhinolaryngological malformation skos:exactMatch Orphanet:435603 semapv:UnspecifiedMatching +obo:GARD_21810 Genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 semapv:UnspecifiedMatching +obo:GARD_21811 Genetic larynx anomaly skos:exactMatch Orphanet:435609 semapv:UnspecifiedMatching +obo:GARD_21812 Genetic tracheal anomaly skos:exactMatch Orphanet:435612 semapv:UnspecifiedMatching +obo:GARD_21813 3p25.3 microdeletion syndrome skos:exactMatch Orphanet:435638 semapv:UnspecifiedMatching +obo:GARD_21814 Congenital urachal anomaly skos:exactMatch Orphanet:435743 semapv:UnspecifiedMatching +obo:GARD_21815 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching +obo:GARD_21816 Contractures-developmental delay-Pierre Robin syndrome skos:exactMatch Orphanet:436003 semapv:UnspecifiedMatching +obo:GARD_21817 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:exactMatch Orphanet:436141 semapv:UnspecifiedMatching +obo:GARD_21818 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:exactMatch Orphanet:436144 semapv:UnspecifiedMatching +obo:GARD_21819 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:exactMatch Orphanet:436271 semapv:UnspecifiedMatching +obo:GARD_21820 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:exactMatch Orphanet:436274 semapv:UnspecifiedMatching +obo:GARD_21821 Disorder of keton body transport skos:exactMatch Orphanet:438072 semapv:UnspecifiedMatching +obo:GARD_21822 Human infection by orthopoxvirus skos:exactMatch Orphanet:438279 semapv:UnspecifiedMatching +obo:GARD_21823 Placental insufficiency skos:exactMatch Orphanet:439167 semapv:UnspecifiedMatching +obo:GARD_21824 Pediatric arterial ischemic stroke skos:exactMatch Orphanet:439175 semapv:UnspecifiedMatching +obo:GARD_21825 Zinc-responsive necrolytic acral erythema skos:exactMatch Orphanet:439196 semapv:UnspecifiedMatching +obo:GARD_21826 Non-recovering obstetric brachial plexus lesion skos:exactMatch Orphanet:439202 semapv:UnspecifiedMatching +obo:GARD_21827 ALECT2 amyloidosis skos:exactMatch Orphanet:439224 semapv:UnspecifiedMatching +obo:GARD_21828 AApoAIV amyloidosis skos:exactMatch Orphanet:439232 semapv:UnspecifiedMatching +obo:GARD_21829 ABeta2M amyloidosis skos:exactMatch Orphanet:439246 semapv:UnspecifiedMatching +obo:GARD_21830 Primary polyarteritis nodosa skos:exactMatch Orphanet:439737 semapv:UnspecifiedMatching +obo:GARD_21831 Secondary polyarteritis nodosa skos:exactMatch Orphanet:439746 semapv:UnspecifiedMatching +obo:GARD_21832 Single-organ polyarteritis nodosa skos:exactMatch Orphanet:439755 semapv:UnspecifiedMatching +obo:GARD_21833 Systemic polyarteritis nodosa skos:exactMatch Orphanet:439762 semapv:UnspecifiedMatching +obo:GARD_21834 Autosomal recessive severe congenital neutropenia skos:exactMatch Orphanet:439849 semapv:UnspecifiedMatching +obo:GARD_21835 Plastic bronchitis skos:exactMatch Orphanet:439881 semapv:UnspecifiedMatching +obo:GARD_21836 Congenital oculomotor nerve palsy skos:exactMatch Orphanet:440221 semapv:UnspecifiedMatching +obo:GARD_21837 Congenital abducens nerve palsy skos:exactMatch Orphanet:440233 semapv:UnspecifiedMatching +obo:GARD_21838 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:440354 semapv:UnspecifiedMatching +obo:GARD_21839 Necrotizing soft tissue infection skos:exactMatch Orphanet:440368 semapv:UnspecifiedMatching +obo:GARD_21840 Familial colorectal cancer Type X skos:exactMatch Orphanet:440437 semapv:UnspecifiedMatching +obo:GARD_21841 Disorders of pentose/polyol metabolism skos:exactMatch Orphanet:440701 semapv:UnspecifiedMatching +obo:GARD_21842 Extensive peripapillary myelinated nerve fibers skos:exactMatch Orphanet:440724 semapv:UnspecifiedMatching +obo:GARD_21843 Combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch Orphanet:440727 semapv:UnspecifiedMatching +obo:GARD_21844 Isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 semapv:UnspecifiedMatching +obo:GARD_21845 Syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 semapv:UnspecifiedMatching +obo:GARD_21846 Early-onset posterior subcapsular cataract skos:exactMatch Orphanet:441447 semapv:UnspecifiedMatching +obo:GARD_21847 AH amyloidosis skos:exactMatch Orphanet:442582 semapv:UnspecifiedMatching +obo:GARD_21848 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect skos:exactMatch Orphanet:443090 semapv:UnspecifiedMatching +obo:GARD_21849 Hyperinsulinemic hypoglycaemia skos:exactMatch Orphanet:443095 semapv:UnspecifiedMatching +obo:GARD_21850 Hypothalamic adipsic hypernatraemia syndrome skos:exactMatch Orphanet:443101 semapv:UnspecifiedMatching +obo:GARD_21851 Lymphoplasmacytic lymphoma without IgM production skos:exactMatch Orphanet:443159 semapv:UnspecifiedMatching +obo:GARD_21852 NUT midline carcinoma skos:exactMatch Orphanet:443167 semapv:UnspecifiedMatching +obo:GARD_21853 Postpartum psychosis skos:exactMatch Orphanet:443173 semapv:UnspecifiedMatching +obo:GARD_21854 Spontaneous intracranial hypotension skos:exactMatch Orphanet:443180 semapv:UnspecifiedMatching +obo:GARD_21855 Paratyphoid fever skos:exactMatch Orphanet:443227 semapv:UnspecifiedMatching +obo:GARD_21856 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor skos:exactMatch Orphanet:443287 semapv:UnspecifiedMatching +obo:GARD_21857 HIV-associated cancer skos:exactMatch Orphanet:443291 semapv:UnspecifiedMatching +obo:GARD_21858 11q22.2q22.3 microdeletion syndrome skos:exactMatch Orphanet:444002 semapv:UnspecifiedMatching +obo:GARD_21859 20q11.2 microdeletion syndrome skos:exactMatch Orphanet:444051 semapv:UnspecifiedMatching +obo:GARD_21860 Idiopathic phalangeal acro-osteolysis skos:exactMatch Orphanet:444316 semapv:UnspecifiedMatching +obo:GARD_21861 Pseudohypoaldosteronism skos:exactMatch Orphanet:444916 semapv:UnspecifiedMatching +obo:GARD_21862 Caudal regression-sirenomelia spectrum skos:exactMatch Orphanet:444941 semapv:UnspecifiedMatching +obo:GARD_21863 Secondary vasculitis skos:exactMatch Orphanet:445197 semapv:UnspecifiedMatching +obo:GARD_21864 NIK deficiency skos:exactMatch Orphanet:447731 semapv:UnspecifiedMatching +obo:GARD_21865 Susceptibility to localized juvenile periodontitis skos:exactMatch Orphanet:447740 semapv:UnspecifiedMatching +obo:GARD_21866 Autosomal dominant spastic paraplegia type 9B skos:exactMatch Orphanet:447757 semapv:UnspecifiedMatching +obo:GARD_21867 IgG4-related sclerosing cholangitis skos:exactMatch Orphanet:447764 semapv:UnspecifiedMatching +obo:GARD_21868 Sclerosing cholangitis skos:exactMatch Orphanet:447771 semapv:UnspecifiedMatching +obo:GARD_21869 Secondary sclerosing cholangitis skos:exactMatch Orphanet:447774 semapv:UnspecifiedMatching +obo:GARD_21870 Keratocystic odontogenic tumor skos:exactMatch Orphanet:447777 semapv:UnspecifiedMatching +obo:GARD_21871 Cerebral visual impairment skos:exactMatch Orphanet:447788 semapv:UnspecifiedMatching +obo:GARD_21872 Lipoyl transferase 2 deficiency skos:exactMatch Orphanet:447795 semapv:UnspecifiedMatching +obo:GARD_21873 Biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 semapv:UnspecifiedMatching +obo:GARD_21874 Idiopathic dropped head syndrome skos:exactMatch Orphanet:447881 semapv:UnspecifiedMatching +obo:GARD_21875 19p13.3 microduplication syndrome skos:exactMatch Orphanet:447980 semapv:UnspecifiedMatching +obo:GARD_21876 Partial duplication of the short arm of chromosome 19 skos:exactMatch Orphanet:447985 semapv:UnspecifiedMatching +obo:GARD_21877 Ectopia cordis skos:exactMatch Orphanet:448270 semapv:UnspecifiedMatching +obo:GARD_21878 Genetic primary orthostatic hypotension skos:exactMatch Orphanet:448426 semapv:UnspecifiedMatching +obo:GARD_21879 Pleural empyema skos:exactMatch Orphanet:449266 semapv:UnspecifiedMatching +obo:GARD_2188 Erosive pustular dermatosis of the scalp skos:exactMatch Orphanet:222 semapv:UnspecifiedMatching +obo:GARD_21880 Scedosporiosis skos:exactMatch Orphanet:449280 semapv:UnspecifiedMatching +obo:GARD_21881 Snakebite envenomation skos:exactMatch Orphanet:449285 semapv:UnspecifiedMatching +obo:GARD_21882 IgG4-related kidney disease skos:exactMatch Orphanet:449395 semapv:UnspecifiedMatching +obo:GARD_21883 IgG4-related aortitis skos:exactMatch Orphanet:449400 semapv:UnspecifiedMatching +obo:GARD_21884 IgG4-related submandibular gland disease skos:exactMatch Orphanet:449432 semapv:UnspecifiedMatching +obo:GARD_21885 IgG4-related ophthalmic disease skos:exactMatch Orphanet:449563 semapv:UnspecifiedMatching +obo:GARD_21886 Eosinophilic angiocentric fibrosis skos:exactMatch Orphanet:449566 semapv:UnspecifiedMatching +obo:GARD_21887 Polyclonal hyperviscosity syndrome skos:exactMatch Orphanet:450322 semapv:UnspecifiedMatching +obo:GARD_21888 Primary cutaneous plasmacytosis skos:exactMatch Orphanet:451602 semapv:UnspecifiedMatching +obo:GARD_21889 Cutaneous pseudolymphoma skos:exactMatch Orphanet:451607 semapv:UnspecifiedMatching +obo:GARD_21890 Congenital insensitivity to pain with severe intellectual disability skos:exactMatch Orphanet:453510 semapv:UnspecifiedMatching +obo:GARD_21891 Progressive muscular atrophy skos:exactMatch Orphanet:454706 semapv:UnspecifiedMatching +obo:GARD_21892 Anti-p200 pemphigoid skos:exactMatch Orphanet:454710 semapv:UnspecifiedMatching +obo:GARD_21893 Endometrioid carcinoma of ovary skos:exactMatch Orphanet:454723 semapv:UnspecifiedMatching +obo:GARD_21894 Variably protease-sensitive prionopathy skos:exactMatch Orphanet:454742 semapv:UnspecifiedMatching +obo:GARD_21895 Isolated tracheoesophageal fistula skos:exactMatch Orphanet:454750 semapv:UnspecifiedMatching +obo:GARD_21896 Acute radiation syndrome skos:exactMatch Orphanet:454831 semapv:UnspecifiedMatching +obo:GARD_21897 Avian influenza skos:exactMatch Orphanet:454836 semapv:UnspecifiedMatching +obo:GARD_21898 1p35.2 microdeletion syndrome skos:exactMatch Orphanet:456298 semapv:UnspecifiedMatching +obo:GARD_21899 Hereditary neuroendocrine tumor of small intestine skos:exactMatch Orphanet:456333 semapv:UnspecifiedMatching +obo:GARD_21900 Pseudohypoparathyroidism without Albright hereditary osteodystrophy skos:exactMatch Orphanet:457062 semapv:UnspecifiedMatching +obo:GARD_21901 Congenital nemaline myopathy skos:exactMatch Orphanet:457074 semapv:UnspecifiedMatching +obo:GARD_21902 TAFRO syndrome skos:exactMatch Orphanet:457077 semapv:UnspecifiedMatching +obo:GARD_21903 Isolated splenogonadal fusion skos:exactMatch Orphanet:457083 semapv:UnspecifiedMatching +obo:GARD_21904 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:exactMatch Orphanet:457205 semapv:UnspecifiedMatching +obo:GARD_21905 Clear cell sarcoma of kidney skos:exactMatch Orphanet:457246 semapv:UnspecifiedMatching +obo:GARD_21906 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:457365 semapv:UnspecifiedMatching +obo:GARD_21907 Composite hemangioendothelioma skos:exactMatch Orphanet:458758 semapv:UnspecifiedMatching +obo:GARD_21908 Retiform hemangioendothelioma skos:exactMatch Orphanet:458763 semapv:UnspecifiedMatching +obo:GARD_21909 Primary intralymphatic angioendothelioma skos:exactMatch Orphanet:458768 semapv:UnspecifiedMatching +obo:GARD_2191 Complement component 5 deficiency skos:broadMatch Orphanet:169150 semapv:UnspecifiedMatching +obo:GARD_2191 Complement component 5 deficiency skos:exactMatch OMIM:609536 semapv:UnspecifiedMatching +obo:GARD_21910 Congenital hemangioma skos:exactMatch Orphanet:458775 semapv:UnspecifiedMatching +obo:GARD_21911 Partially involuting congenital hemangioma skos:exactMatch Orphanet:458785 semapv:UnspecifiedMatching +obo:GARD_21912 Mixed cystic lymphatic malformation skos:exactMatch Orphanet:458792 semapv:UnspecifiedMatching +obo:GARD_21913 Vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 semapv:UnspecifiedMatching +obo:GARD_21914 Rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 semapv:UnspecifiedMatching +obo:GARD_21915 Common cystic lymphatic malformation skos:exactMatch Orphanet:458833 semapv:UnspecifiedMatching +obo:GARD_21916 Rare combined vascular malformation skos:exactMatch Orphanet:458837 semapv:UnspecifiedMatching +obo:GARD_21917 Rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 semapv:UnspecifiedMatching +obo:GARD_21918 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:exactMatch Orphanet:459074 semapv:UnspecifiedMatching +obo:GARD_21919 Immunodeficiency due to a complement cascade component deficiency skos:exactMatch Orphanet:459345 semapv:UnspecifiedMatching +obo:GARD_2192 Congenital lethal erythroderma skos:exactMatch Orphanet:1954 semapv:UnspecifiedMatching +obo:GARD_2192 Congenital lethal erythroderma skos:narrowMatch OMIM:227090 semapv:UnspecifiedMatching +obo:GARD_21920 Immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 semapv:UnspecifiedMatching +obo:GARD_21921 Rare genetic capillary malformation skos:exactMatch Orphanet:459526 semapv:UnspecifiedMatching +obo:GARD_21922 Genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 semapv:UnspecifiedMatching +obo:GARD_21923 Rare genetic vascular tumor skos:exactMatch Orphanet:459543 semapv:UnspecifiedMatching +obo:GARD_21924 Rare genetic venous malformation skos:exactMatch Orphanet:459548 semapv:UnspecifiedMatching +obo:GARD_21925 Lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 semapv:UnspecifiedMatching +obo:GARD_21926 Intellectual disability syndrome due to a DYRK1A point mutation skos:exactMatch Orphanet:464311 semapv:UnspecifiedMatching +obo:GARD_21927 Verrucous hemangioma skos:exactMatch Orphanet:464318 semapv:UnspecifiedMatching +obo:GARD_21928 Benign metanephric tumor skos:exactMatch Orphanet:464359 semapv:UnspecifiedMatching +obo:GARD_21929 Neonatal alloimmune neutropenia skos:exactMatch Orphanet:464370 semapv:UnspecifiedMatching +obo:GARD_21930 Acquired methemoglobinemia skos:exactMatch Orphanet:464453 semapv:UnspecifiedMatching +obo:GARD_21931 Paracetamol poisoning skos:exactMatch Orphanet:464458 semapv:UnspecifiedMatching +obo:GARD_21932 Familial gastric type 1 neuroendocrine tumor skos:exactMatch Orphanet:464756 semapv:UnspecifiedMatching +obo:GARD_21933 Immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 semapv:UnspecifiedMatching +obo:GARD_21934 Genetic hemoglobinopathy skos:exactMatch Orphanet:466066 semapv:UnspecifiedMatching +obo:GARD_21935 Genetic otorhinolaryngologic disease skos:exactMatch Orphanet:466084 semapv:UnspecifiedMatching +obo:GARD_21936 Exercise-induced malignant hyperthermia skos:exactMatch Orphanet:466650 semapv:UnspecifiedMatching +obo:GARD_21937 Rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 semapv:UnspecifiedMatching +obo:GARD_21938 Cyanide poisoning skos:exactMatch Orphanet:466670 semapv:UnspecifiedMatching +obo:GARD_21939 Scorpion envenomation skos:exactMatch Orphanet:466677 semapv:UnspecifiedMatching +obo:GARD_21940 Euthyroid Graves orbitopathy skos:exactMatch Orphanet:466682 semapv:UnspecifiedMatching +obo:GARD_21941 Supratip dysplasia skos:exactMatch Orphanet:466695 semapv:UnspecifiedMatching +obo:GARD_21942 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:exactMatch Orphanet:466921 semapv:UnspecifiedMatching +obo:GARD_21943 SMARCA4-deficient sarcoma of thorax skos:exactMatch Orphanet:466962 semapv:UnspecifiedMatching +obo:GARD_21944 Tubulinopathy-associated dysgyria skos:exactMatch Orphanet:467166 semapv:UnspecifiedMatching +obo:GARD_21945 Cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch Orphanet:468635 semapv:UnspecifiedMatching +obo:GARD_21946 Chronic enteropathy associated with SLCO2A1 gene skos:exactMatch Orphanet:468641 semapv:UnspecifiedMatching +obo:GARD_21947 Genetic lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:471383 semapv:UnspecifiedMatching +obo:GARD_21948 Rare congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 semapv:UnspecifiedMatching +obo:GARD_21949 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:476093 semapv:UnspecifiedMatching +obo:GARD_2195 Thickened earlobes-conductive deafness syndrome skos:exactMatch Orphanet:2405 semapv:UnspecifiedMatching +obo:GARD_2195 Thickened earlobes-conductive deafness syndrome skos:narrowMatch OMIM:128980 semapv:UnspecifiedMatching +obo:GARD_21950 Erythrokeratodermia-cardiomyopathy syndrome skos:exactMatch Orphanet:476096 semapv:UnspecifiedMatching +obo:GARD_21951 Axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 semapv:UnspecifiedMatching +obo:GARD_21952 Demyelinating hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476116 semapv:UnspecifiedMatching +obo:GARD_21953 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:exactMatch Orphanet:476119 semapv:UnspecifiedMatching +obo:GARD_21954 Intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:476123 semapv:UnspecifiedMatching +obo:GARD_21955 Hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 semapv:UnspecifiedMatching +obo:GARD_21956 Congenital generalized hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476406 semapv:UnspecifiedMatching +obo:GARD_21957 Type 1 interferonopathy skos:exactMatch Orphanet:477647 semapv:UnspecifiedMatching +obo:GARD_21958 Fibroblastic rheumatism skos:exactMatch Orphanet:477650 semapv:UnspecifiedMatching +obo:GARD_21959 Nodular fasciitis skos:exactMatch Orphanet:477742 semapv:UnspecifiedMatching +obo:GARD_21960 Genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 semapv:UnspecifiedMatching +obo:GARD_21961 COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 semapv:UnspecifiedMatching +obo:GARD_21962 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy skos:exactMatch Orphanet:477762 semapv:UnspecifiedMatching +obo:GARD_21963 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy skos:exactMatch Orphanet:477765 semapv:UnspecifiedMatching +obo:GARD_21964 Moyamoya angiopathy skos:exactMatch Orphanet:477768 semapv:UnspecifiedMatching +obo:GARD_21965 Rare disorder with a moyamoya angiopathy skos:exactMatch Orphanet:477771 semapv:UnspecifiedMatching +obo:GARD_21966 Primary condylar hyperplasia skos:exactMatch Orphanet:477781 semapv:UnspecifiedMatching +obo:GARD_21967 Syndromic constitutional thrombocytopenia skos:exactMatch Orphanet:477794 semapv:UnspecifiedMatching +obo:GARD_21968 Isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 semapv:UnspecifiedMatching +obo:GARD_21969 Genetic cardiac malformation skos:exactMatch Orphanet:477805 semapv:UnspecifiedMatching +obo:GARD_2197 Esthesioneuroblastoma skos:exactMatch Orphanet:1957 semapv:UnspecifiedMatching +obo:GARD_21970 Other genetic dermis disorder skos:exactMatch Orphanet:477808 semapv:UnspecifiedMatching +obo:GARD_21971 Rare hypercholesterolemia skos:exactMatch Orphanet:477811 semapv:UnspecifiedMatching +obo:GARD_21972 MYO5B-related progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:480491 semapv:UnspecifiedMatching +obo:GARD_21973 Choledochal cyst skos:exactMatch Orphanet:480501 semapv:UnspecifiedMatching +obo:GARD_21974 Primary intrahepatic lithiasis skos:exactMatch Orphanet:480506 semapv:UnspecifiedMatching +obo:GARD_21975 Idiopathic ductopenia skos:exactMatch Orphanet:480512 semapv:UnspecifiedMatching +obo:GARD_21976 Caroli syndrome skos:exactMatch Orphanet:480520 semapv:UnspecifiedMatching +obo:GARD_21977 Idiopathic peliosis hepatis skos:exactMatch Orphanet:480524 semapv:UnspecifiedMatching +obo:GARD_21978 Lethal hydranencephaly-diaphragmatic hernia syndrome skos:exactMatch Orphanet:480528 semapv:UnspecifiedMatching +obo:GARD_21979 Congenital portosystemic shunt skos:exactMatch Orphanet:480531 semapv:UnspecifiedMatching +obo:GARD_2198 Ethylmalonic encephalopathy skos:exactMatch Orphanet:51188 semapv:UnspecifiedMatching +obo:GARD_2198 Ethylmalonic encephalopathy skos:narrowMatch OMIM:602473 semapv:UnspecifiedMatching +obo:GARD_21980 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:exactMatch Orphanet:480541 semapv:UnspecifiedMatching +obo:GARD_21981 Non-severe combined immunodeficiency skos:exactMatch Orphanet:480549 semapv:UnspecifiedMatching +obo:GARD_21982 Aneurysmal bone cyst skos:exactMatch Orphanet:480553 semapv:UnspecifiedMatching +obo:GARD_21983 Isolated neonatal sclerosing cholangitis skos:exactMatch Orphanet:480556 semapv:UnspecifiedMatching +obo:GARD_21984 Facial diplegia with paresthesias skos:exactMatch Orphanet:480701 semapv:UnspecifiedMatching +obo:GARD_21985 Gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 semapv:UnspecifiedMatching +obo:GARD_21986 Type 1 interferonopathy of childhood skos:exactMatch Orphanet:481671 semapv:UnspecifiedMatching +obo:GARD_21987 Genetic alopecia skos:exactMatch Orphanet:481771 semapv:UnspecifiedMatching +obo:GARD_21988 HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 semapv:UnspecifiedMatching +obo:GARD_21989 Rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 semapv:UnspecifiedMatching +obo:GARD_21990 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:exactMatch Orphanet:482606 semapv:UnspecifiedMatching +obo:GARD_21991 Propylthiouracil embryofetopathy skos:exactMatch Orphanet:485358 semapv:UnspecifiedMatching +obo:GARD_21992 Genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 semapv:UnspecifiedMatching +obo:GARD_21993 16p12.1p12.3 triplication syndrome skos:exactMatch Orphanet:485405 semapv:UnspecifiedMatching +obo:GARD_21994 EMILIN-1-related connective tissue disease skos:exactMatch Orphanet:485418 semapv:UnspecifiedMatching +obo:GARD_21995 Isolated congenital hepatic fibrosis skos:exactMatch Orphanet:485426 semapv:UnspecifiedMatching +obo:GARD_21996 Congenital bile acid synthesis defect skos:exactMatch Orphanet:485631 semapv:UnspecifiedMatching +obo:GARD_21997 Rare pediatric rheumatologic disease skos:exactMatch Orphanet:486955 semapv:UnspecifiedMatching +obo:GARD_21998 Pediatric collagenous gastritis skos:exactMatch Orphanet:487809 semapv:UnspecifiedMatching +obo:GARD_21999 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation skos:exactMatch Orphanet:487814 semapv:UnspecifiedMatching +obo:GARD_22 Björnstad syndrome skos:exactMatch Orphanet:123 semapv:UnspecifiedMatching +obo:GARD_22 Björnstad syndrome skos:narrowMatch OMIM:262000 semapv:UnspecifiedMatching +obo:GARD_220 Peripartum cardiomyopathy skos:exactMatch Orphanet:563 semapv:UnspecifiedMatching +obo:GARD_22000 Acute macular neuroretinopathy skos:exactMatch Orphanet:488239 semapv:UnspecifiedMatching +obo:GARD_22001 SIX2-related frontonasal dysplasia skos:exactMatch Orphanet:488437 semapv:UnspecifiedMatching +obo:GARD_22002 Congenital amyoplasia skos:exactMatch Orphanet:488586 semapv:UnspecifiedMatching +obo:GARD_22003 Extracranial carotid artery aneurysm skos:exactMatch Orphanet:494424 semapv:UnspecifiedMatching +obo:GARD_22004 Idiopathic pleuroparenchymal fibroelastosis skos:exactMatch Orphanet:494428 semapv:UnspecifiedMatching +obo:GARD_22005 Vulvar squamous cell carcinoma skos:exactMatch Orphanet:494448 semapv:UnspecifiedMatching +obo:GARD_22006 Vulvar basal cell carcinoma skos:exactMatch Orphanet:494451 semapv:UnspecifiedMatching +obo:GARD_22007 Vulvar adenocarcinoma skos:exactMatch Orphanet:494454 semapv:UnspecifiedMatching +obo:GARD_22008 Rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 semapv:UnspecifiedMatching +obo:GARD_22009 9q33.3q34.11 microdeletion syndrome skos:exactMatch Orphanet:495818 semapv:UnspecifiedMatching +obo:GARD_22010 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:exactMatch Orphanet:495875 semapv:UnspecifiedMatching +obo:GARD_22011 Congenital agenesis of the scrotum skos:exactMatch Orphanet:495879 semapv:UnspecifiedMatching +obo:GARD_22012 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:exactMatch Orphanet:496689 semapv:UnspecifiedMatching +obo:GARD_22013 Rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 semapv:UnspecifiedMatching +obo:GARD_22014 Non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 semapv:UnspecifiedMatching +obo:GARD_22015 C12ORF65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 semapv:UnspecifiedMatching +obo:GARD_22016 Epidermolytic nevus skos:exactMatch Orphanet:497737 semapv:UnspecifiedMatching +obo:GARD_22017 Menstrual cycle-dependent periodic fever skos:exactMatch Orphanet:498251 semapv:UnspecifiedMatching +obo:GARD_22018 Biliary atresia and associated disorders skos:exactMatch Orphanet:498345 semapv:UnspecifiedMatching +obo:GARD_22019 Syndromic biliary atresia skos:exactMatch Orphanet:498350 semapv:UnspecifiedMatching +obo:GARD_2202 Exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch Orphanet:1962 semapv:UnspecifiedMatching +obo:GARD_2202 Exostoses-anetodermia-brachydactyly type E syndrome skos:narrowMatch OMIM:133690 semapv:UnspecifiedMatching +obo:GARD_22020 Genetic inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 semapv:UnspecifiedMatching +obo:GARD_22021 Overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 semapv:UnspecifiedMatching +obo:GARD_22022 Dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 semapv:UnspecifiedMatching +obo:GARD_22023 Dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 semapv:UnspecifiedMatching +obo:GARD_22024 Longitudinal limb defect skos:exactMatch Orphanet:498457 semapv:UnspecifiedMatching +obo:GARD_22025 Terminal transverse limb defect skos:exactMatch Orphanet:498461 semapv:UnspecifiedMatching +obo:GARD_22026 Non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 semapv:UnspecifiedMatching +obo:GARD_22027 Non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 semapv:UnspecifiedMatching +obo:GARD_22028 Non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 semapv:UnspecifiedMatching +obo:GARD_22029 Hyaline fibromatosis syndrome skos:exactMatch Orphanet:498474 semapv:UnspecifiedMatching +obo:GARD_22030 Ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 semapv:UnspecifiedMatching +obo:GARD_22031 LRP5-related primary osteoporosis skos:exactMatch Orphanet:498481 semapv:UnspecifiedMatching +obo:GARD_22032 Overgrowth syndrome with 2q37 translocation skos:exactMatch Orphanet:498488 semapv:UnspecifiedMatching +obo:GARD_22033 Complete hemimelia skos:exactMatch Orphanet:498491 semapv:UnspecifiedMatching +obo:GARD_22034 Mirror-image polydactyly skos:exactMatch Orphanet:498494 semapv:UnspecifiedMatching +obo:GARD_22035 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:exactMatch Orphanet:498693 semapv:UnspecifiedMatching +obo:GARD_22036 Congenital syphilis skos:exactMatch Orphanet:499009 semapv:UnspecifiedMatching +obo:GARD_22037 Autoimmune/inflammatory optic neuropathy skos:exactMatch Orphanet:499047 semapv:UnspecifiedMatching +obo:GARD_22038 Chronic relapsing inflammatory optic neuropathy skos:exactMatch Orphanet:499085 semapv:UnspecifiedMatching +obo:GARD_22039 Isolated optic neuritis skos:exactMatch Orphanet:499096 semapv:UnspecifiedMatching +obo:GARD_2204 Exostoses, multiple, type i skos:broadMatch Orphanet:321 semapv:UnspecifiedMatching +obo:GARD_2204 Exostoses, multiple, type i skos:exactMatch OMIM:133700 semapv:UnspecifiedMatching +obo:GARD_22040 Recurrent idiopathic neuroretinitis skos:exactMatch Orphanet:499103 semapv:UnspecifiedMatching +obo:GARD_22041 Idiopathic optic perineuritis skos:exactMatch Orphanet:499107 semapv:UnspecifiedMatching +obo:GARD_22042 Pilomatrix carcinoma skos:exactMatch Orphanet:499182 semapv:UnspecifiedMatching +obo:GARD_22043 Witteveen-Kolk syndrome skos:exactMatch Orphanet:500163 semapv:UnspecifiedMatching +obo:GARD_22044 Cochleovestibular malformation skos:exactMatch Orphanet:502305 semapv:UnspecifiedMatching +obo:GARD_22045 Cochlear nerve deficiency skos:exactMatch Orphanet:502318 semapv:UnspecifiedMatching +obo:GARD_22046 Squamous cell carcinoma of oral cavity and lip skos:exactMatch Orphanet:502369 semapv:UnspecifiedMatching +obo:GARD_22047 Metopic ridging-ptosis-facial dysmorphism syndrome skos:exactMatch Orphanet:502430 semapv:UnspecifiedMatching +obo:GARD_22048 4q25 proximal deletion syndrome skos:exactMatch Orphanet:502437 semapv:UnspecifiedMatching +obo:GARD_22049 Erythema multiforme major skos:exactMatch Orphanet:502499 semapv:UnspecifiedMatching +obo:GARD_2205 Exostoses, multiple, type ii skos:broadMatch Orphanet:321 semapv:UnspecifiedMatching +obo:GARD_2205 Exostoses, multiple, type ii skos:exactMatch OMIM:133701 semapv:UnspecifiedMatching +obo:GARD_22050 3-methylglutaconic aciduria type 8 skos:exactMatch Orphanet:505208 semapv:UnspecifiedMatching +obo:GARD_22051 Ventilator-induced diaphragmatic dysfunction skos:exactMatch Orphanet:505395 semapv:UnspecifiedMatching +obo:GARD_22052 Neuroendocrine neoplasm of pancreas skos:exactMatch Orphanet:506052 semapv:UnspecifiedMatching +obo:GARD_22053 Functioning neuroendocrine tumor of pancreas skos:exactMatch Orphanet:506060 semapv:UnspecifiedMatching +obo:GARD_22054 Non-functioning neuroendocrine tumor of pancreas skos:exactMatch Orphanet:506075 semapv:UnspecifiedMatching +obo:GARD_22055 Serotonin-producing neuroendocrine tumor of pancreas skos:exactMatch Orphanet:506090 semapv:UnspecifiedMatching +obo:GARD_22056 Neuroendocrine carcinoma of pancreas skos:exactMatch Orphanet:506098 semapv:UnspecifiedMatching +obo:GARD_22057 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas skos:exactMatch Orphanet:506112 semapv:UnspecifiedMatching +obo:GARD_22058 Neuroendocrine neoplasm of esophagus skos:exactMatch Orphanet:506136 semapv:UnspecifiedMatching +obo:GARD_22059 Rare disorder potentially indicated for transplant skos:exactMatch Orphanet:506207 semapv:UnspecifiedMatching +obo:GARD_2206 Exostoses, multiple, type iii skos:broadMatch Orphanet:321 semapv:UnspecifiedMatching +obo:GARD_2206 Exostoses, multiple, type iii skos:exactMatch OMIM:600209 semapv:UnspecifiedMatching +obo:GARD_22060 Rare disorder potentially indicated for liver transplant skos:exactMatch Orphanet:506210 semapv:UnspecifiedMatching +obo:GARD_22061 Rare disorder potentially indicated for kidney transplant skos:exactMatch Orphanet:506213 semapv:UnspecifiedMatching +obo:GARD_22062 Rare disorder potentially indicated for bowel transplant skos:exactMatch Orphanet:506216 semapv:UnspecifiedMatching +obo:GARD_22063 Rare disorder potentially indicated for hematopoietic stem cell transplant skos:exactMatch Orphanet:506219 semapv:UnspecifiedMatching +obo:GARD_22064 Rare disorder potentially indicated for lung transplant skos:exactMatch Orphanet:506222 semapv:UnspecifiedMatching +obo:GARD_22065 Rare disorder potentially indicated for heart transplant skos:exactMatch Orphanet:506225 semapv:UnspecifiedMatching +obo:GARD_22066 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch Orphanet:506784 semapv:UnspecifiedMatching +obo:GARD_22067 Familial intestinal malrotation skos:exactMatch Orphanet:508410 semapv:UnspecifiedMatching +obo:GARD_22068 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:exactMatch Orphanet:508476 semapv:UnspecifiedMatching +obo:GARD_22069 Oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch Orphanet:508501 semapv:UnspecifiedMatching +obo:GARD_2207 Exstrophy-epispadias complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching +obo:GARD_2207 Exstrophy-epispadias complex skos:narrowMatch OMIM:258040 semapv:UnspecifiedMatching +obo:GARD_2207 Exstrophy-epispadias complex skos:narrowMatch OMIM:600057 semapv:UnspecifiedMatching +obo:GARD_22070 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:exactMatch Orphanet:508533 semapv:UnspecifiedMatching +obo:GARD_22071 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:exactMatch Orphanet:508542 semapv:UnspecifiedMatching +obo:GARD_22072 Chronic lymphoproliferative disorder of natural killer cells skos:exactMatch Orphanet:512017 semapv:UnspecifiedMatching +obo:GARD_22073 Large granular lymphocyte leukemia skos:exactMatch Orphanet:512034 semapv:UnspecifiedMatching +obo:GARD_22074 Autosomal recessive epidermolytic ichthyosis skos:exactMatch Orphanet:512103 semapv:UnspecifiedMatching +obo:GARD_22075 Congenital cerebellar ataxia due to RNU12 mutation skos:exactMatch Orphanet:512260 semapv:UnspecifiedMatching +obo:GARD_22076 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:exactMatch Orphanet:514352 semapv:UnspecifiedMatching +obo:GARD_22077 ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 semapv:UnspecifiedMatching +obo:GARD_22078 Inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 semapv:UnspecifiedMatching +obo:GARD_22079 Rare disorder of the ocular adnexa skos:exactMatch Orphanet:519266 semapv:UnspecifiedMatching +obo:GARD_22080 Rare disorder with ectropion skos:exactMatch Orphanet:519268 semapv:UnspecifiedMatching +obo:GARD_22081 Rare disorder with entropion skos:exactMatch Orphanet:519270 semapv:UnspecifiedMatching +obo:GARD_22082 Structural developmental eye defect skos:exactMatch Orphanet:519272 semapv:UnspecifiedMatching +obo:GARD_22083 Syndromic lacrimal system disorder skos:exactMatch Orphanet:519274 semapv:UnspecifiedMatching +obo:GARD_22084 Anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 semapv:UnspecifiedMatching +obo:GARD_22085 Infective keratitis skos:exactMatch Orphanet:519278 semapv:UnspecifiedMatching +obo:GARD_22086 Rare conjunctivitis skos:exactMatch Orphanet:519280 semapv:UnspecifiedMatching +obo:GARD_22087 Rare corneal disorder skos:exactMatch Orphanet:519282 semapv:UnspecifiedMatching +obo:GARD_22088 Rare disorder of the anterior segment of the eye skos:exactMatch Orphanet:519284 semapv:UnspecifiedMatching +obo:GARD_22089 Rare disorder of the pupil skos:exactMatch Orphanet:519286 semapv:UnspecifiedMatching +obo:GARD_22090 Rare disorder with corneal involvement as a major feature skos:exactMatch Orphanet:519288 semapv:UnspecifiedMatching +obo:GARD_22091 Rare inflammatory/autoimmune corneal disorder skos:exactMatch Orphanet:519290 semapv:UnspecifiedMatching +obo:GARD_22092 Syndromic ectopia lentis skos:exactMatch Orphanet:519292 semapv:UnspecifiedMatching +obo:GARD_22093 Syndromic microspherophakia skos:exactMatch Orphanet:519294 semapv:UnspecifiedMatching +obo:GARD_22094 Rare disorder with pigmented sclera skos:exactMatch Orphanet:519296 semapv:UnspecifiedMatching +obo:GARD_22095 Rare scleral disorder skos:exactMatch Orphanet:519298 semapv:UnspecifiedMatching +obo:GARD_22096 Isolated chorioretinal dystrophy skos:exactMatch Orphanet:519300 semapv:UnspecifiedMatching +obo:GARD_22097 Isolated macular dystrophy skos:exactMatch Orphanet:519302 semapv:UnspecifiedMatching +obo:GARD_22098 Isolated vitreoretinopathy skos:exactMatch Orphanet:519304 semapv:UnspecifiedMatching +obo:GARD_22099 Isolated progressive inherited retinal disorder skos:exactMatch Orphanet:519306 semapv:UnspecifiedMatching +obo:GARD_221 Dilated cardiomyopathy skos:exactMatch Orphanet:217604 semapv:UnspecifiedMatching +obo:GARD_22100 Rare choroidal disorder skos:exactMatch Orphanet:519309 semapv:UnspecifiedMatching +obo:GARD_22101 Rare disorder of the posterior segment of the eye skos:exactMatch Orphanet:519311 semapv:UnspecifiedMatching +obo:GARD_22102 Rare macular disorder skos:exactMatch Orphanet:519313 semapv:UnspecifiedMatching +obo:GARD_22103 Rare retinal disorder skos:exactMatch Orphanet:519315 semapv:UnspecifiedMatching +obo:GARD_22104 Rare retinal vasculopathy skos:exactMatch Orphanet:519317 semapv:UnspecifiedMatching +obo:GARD_22105 Isolated stationary inherited retinal disorder skos:exactMatch Orphanet:519319 semapv:UnspecifiedMatching +obo:GARD_22106 Syndromic chorioretinal dystrophy skos:exactMatch Orphanet:519321 semapv:UnspecifiedMatching +obo:GARD_22107 Syndromic macular dystrophy skos:exactMatch Orphanet:519323 semapv:UnspecifiedMatching +obo:GARD_22108 Syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 semapv:UnspecifiedMatching +obo:GARD_22109 Syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 semapv:UnspecifiedMatching +obo:GARD_22110 Rare disorder involving multiple structures of the eye skos:exactMatch Orphanet:519329 semapv:UnspecifiedMatching +obo:GARD_22111 Secondary early-onset glaucoma skos:exactMatch Orphanet:519331 semapv:UnspecifiedMatching +obo:GARD_22112 Congenital optic disc excavation skos:exactMatch Orphanet:519333 semapv:UnspecifiedMatching +obo:GARD_22113 Disorder with optic nerve compression skos:exactMatch Orphanet:519337 semapv:UnspecifiedMatching +obo:GARD_22114 Pseudopapilledema skos:exactMatch Orphanet:519339 semapv:UnspecifiedMatching +obo:GARD_22115 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 semapv:UnspecifiedMatching +obo:GARD_22116 Rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 semapv:UnspecifiedMatching +obo:GARD_22117 Rare disorder with optic disc malformation skos:exactMatch Orphanet:519345 semapv:UnspecifiedMatching +obo:GARD_22118 Rare neuromuscular disorder with ocular motility/alignment anomaly skos:exactMatch Orphanet:519347 semapv:UnspecifiedMatching +obo:GARD_22119 Rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 semapv:UnspecifiedMatching +obo:GARD_22120 Rare optic nerve disorder skos:exactMatch Orphanet:519351 semapv:UnspecifiedMatching +obo:GARD_22121 Rare trochlear nerve disorder skos:exactMatch Orphanet:519353 semapv:UnspecifiedMatching +obo:GARD_22122 Rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 semapv:UnspecifiedMatching +obo:GARD_22123 Isolated congenital entropion skos:exactMatch Orphanet:519386 semapv:UnspecifiedMatching +obo:GARD_22124 Isolated blepharochalasis skos:exactMatch Orphanet:519390 semapv:UnspecifiedMatching +obo:GARD_22125 Isolated iridoschisis skos:exactMatch Orphanet:519392 semapv:UnspecifiedMatching +obo:GARD_22126 Isolated microspherophakia skos:exactMatch Orphanet:519396 semapv:UnspecifiedMatching +obo:GARD_22127 Isolated foveal hypoplasia skos:exactMatch Orphanet:519398 semapv:UnspecifiedMatching +obo:GARD_22128 Peripapillary staphyloma skos:exactMatch Orphanet:519400 semapv:UnspecifiedMatching +obo:GARD_22129 Isolated megalopapilla skos:exactMatch Orphanet:519402 semapv:UnspecifiedMatching +obo:GARD_2213 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch Orphanet:1964 semapv:UnspecifiedMatching +obo:GARD_2213 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:narrowMatch OMIM:133750 semapv:UnspecifiedMatching +obo:GARD_22130 Optic disc pit skos:exactMatch Orphanet:519404 semapv:UnspecifiedMatching +obo:GARD_22131 Thygeson superficial punctate keratitis skos:exactMatch Orphanet:519406 semapv:UnspecifiedMatching +obo:GARD_22132 Mooren ulcer skos:exactMatch Orphanet:519408 semapv:UnspecifiedMatching +obo:GARD_22133 Terrien marginal degeneration skos:exactMatch Orphanet:519410 semapv:UnspecifiedMatching +obo:GARD_22134 Fungal keratitis skos:exactMatch Orphanet:519930 semapv:UnspecifiedMatching +obo:GARD_22135 Rare disorder of the visual organs skos:exactMatch Orphanet:520814 semapv:UnspecifiedMatching +obo:GARD_22136 Isolated inherited retinal disorder skos:exactMatch Orphanet:520817 semapv:UnspecifiedMatching +obo:GARD_22137 Radiation-induced plexopathy skos:exactMatch Orphanet:521123 semapv:UnspecifiedMatching +obo:GARD_22138 Osteoradionecrosis of the mandible skos:exactMatch Orphanet:521127 semapv:UnspecifiedMatching +obo:GARD_22139 Radiation-induced disorder skos:exactMatch Orphanet:521132 semapv:UnspecifiedMatching +obo:GARD_22140 Genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 semapv:UnspecifiedMatching +obo:GARD_22141 Primary orthostatic disorder skos:exactMatch Orphanet:521236 semapv:UnspecifiedMatching +obo:GARD_22142 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:exactMatch Orphanet:521308 semapv:UnspecifiedMatching +obo:GARD_22143 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect skos:exactMatch Orphanet:521411 semapv:UnspecifiedMatching +obo:GARD_22144 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:exactMatch Orphanet:521432 semapv:UnspecifiedMatching +obo:GARD_22145 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:exactMatch Orphanet:521445 semapv:UnspecifiedMatching +obo:GARD_22146 LAMA5-related multisystemic syndrome skos:exactMatch Orphanet:521450 semapv:UnspecifiedMatching +obo:GARD_22147 Primary autoimmune enteropathy skos:exactMatch Orphanet:522037 semapv:UnspecifiedMatching +obo:GARD_22148 Syndromic autoimmune enteropathy skos:exactMatch Orphanet:522043 semapv:UnspecifiedMatching +obo:GARD_22149 Rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 semapv:UnspecifiedMatching +obo:GARD_22150 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:522506 semapv:UnspecifiedMatching +obo:GARD_22151 Rare genetic ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:522508 semapv:UnspecifiedMatching +obo:GARD_22152 Rare genetic ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:522510 semapv:UnspecifiedMatching +obo:GARD_22153 Rare genetic optic nerve disorder skos:exactMatch Orphanet:522512 semapv:UnspecifiedMatching +obo:GARD_22154 Congenital optic disc excavation of genetic origin skos:exactMatch Orphanet:522514 semapv:UnspecifiedMatching +obo:GARD_22155 Rare genetic ocular motility/alignment disorder skos:exactMatch Orphanet:522516 semapv:UnspecifiedMatching +obo:GARD_22156 Rare genetic disorder with strabismus skos:exactMatch Orphanet:522518 semapv:UnspecifiedMatching +obo:GARD_22157 Syndromic genetic disorder with strabismus skos:exactMatch Orphanet:522520 semapv:UnspecifiedMatching +obo:GARD_22158 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly skos:exactMatch Orphanet:522522 semapv:UnspecifiedMatching +obo:GARD_22159 Rare genetic disorder of the ocular adnexa skos:exactMatch Orphanet:522524 semapv:UnspecifiedMatching +obo:GARD_2216 Eyebrow duplication-syndactyly syndrome skos:exactMatch Orphanet:3172 semapv:UnspecifiedMatching +obo:GARD_2216 Eyebrow duplication-syndactyly syndrome skos:narrowMatch OMIM:227210 semapv:UnspecifiedMatching +obo:GARD_22160 Rare genetic palpebral disorder skos:exactMatch Orphanet:522526 semapv:UnspecifiedMatching +obo:GARD_22161 Rare genetic eyelid malposition disorder skos:exactMatch Orphanet:522528 semapv:UnspecifiedMatching +obo:GARD_22162 Rare genetic disorder with entropion skos:exactMatch Orphanet:522530 semapv:UnspecifiedMatching +obo:GARD_22163 Rare genetic disorder of the lacrimal apparatus skos:exactMatch Orphanet:522532 semapv:UnspecifiedMatching +obo:GARD_22164 Lacrimal drainage system anomaly of genetic origin skos:exactMatch Orphanet:522534 semapv:UnspecifiedMatching +obo:GARD_22165 Structural developmental eye defect of genetic origin skos:exactMatch Orphanet:522536 semapv:UnspecifiedMatching +obo:GARD_22166 Rare genetic disorder of the anterior segment of the eye skos:exactMatch Orphanet:522538 semapv:UnspecifiedMatching +obo:GARD_22167 Anterior segment developmental anomaly of genetic origin skos:exactMatch Orphanet:522540 semapv:UnspecifiedMatching +obo:GARD_22168 Rare genetic disorder with conjunctival involvement as a major feature skos:exactMatch Orphanet:522542 semapv:UnspecifiedMatching +obo:GARD_22169 Rare genetic disorder with lens opacification skos:exactMatch Orphanet:522546 semapv:UnspecifiedMatching +obo:GARD_22170 Syndromic genetic cataract skos:exactMatch Orphanet:522548 semapv:UnspecifiedMatching +obo:GARD_22171 Lens size anomaly of genetic origin skos:exactMatch Orphanet:522550 semapv:UnspecifiedMatching +obo:GARD_22172 Lens position anomaly of genetic origin skos:exactMatch Orphanet:522552 semapv:UnspecifiedMatching +obo:GARD_22173 Syndromic genetic ectopia lentis skos:exactMatch Orphanet:522554 semapv:UnspecifiedMatching +obo:GARD_22174 Rare genetic corneal disorder skos:exactMatch Orphanet:522556 semapv:UnspecifiedMatching +obo:GARD_22175 Rare genetic disorder with corneal involvement as a major feature skos:exactMatch Orphanet:522558 semapv:UnspecifiedMatching +obo:GARD_22176 Genetic corneal dystrophy skos:exactMatch Orphanet:522560 semapv:UnspecifiedMatching +obo:GARD_22177 Genetic superficial corneal dystrophy skos:exactMatch Orphanet:522562 semapv:UnspecifiedMatching +obo:GARD_22178 Syndromic genetic keratoconus skos:exactMatch Orphanet:522564 semapv:UnspecifiedMatching +obo:GARD_22179 Rare genetic inflammatory/autoimmune corneal disorder skos:exactMatch Orphanet:522566 semapv:UnspecifiedMatching +obo:GARD_22180 Rare genetic disorder of the pupil skos:exactMatch Orphanet:522568 semapv:UnspecifiedMatching +obo:GARD_22181 Rare genetic disorder of the posterior segment of the eye skos:exactMatch Orphanet:522570 semapv:UnspecifiedMatching +obo:GARD_22182 Rare genetic retinal disorder skos:exactMatch Orphanet:522572 semapv:UnspecifiedMatching +obo:GARD_22183 Rare genetic macular disorder skos:exactMatch Orphanet:522574 semapv:UnspecifiedMatching +obo:GARD_22184 Rare genetic retinal vasculopathy skos:exactMatch Orphanet:522576 semapv:UnspecifiedMatching +obo:GARD_22185 Rare genetic disorder involving multiple structures of the eye skos:exactMatch Orphanet:522578 semapv:UnspecifiedMatching +obo:GARD_22186 Secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 semapv:UnspecifiedMatching +obo:GARD_22187 Rare genetic choroidal disorder skos:exactMatch Orphanet:522584 semapv:UnspecifiedMatching +obo:GARD_22188 Pediatric-onset glaucoma skos:exactMatch Orphanet:523000 semapv:UnspecifiedMatching +obo:GARD_22189 Genetic congenital malformation of the eye with glaucoma as a major feature skos:exactMatch Orphanet:525677 semapv:UnspecifiedMatching +obo:GARD_22190 Pediatric-onset Graves disease skos:exactMatch Orphanet:525731 semapv:UnspecifiedMatching +obo:GARD_22191 Prepubertal anorexia nervosa skos:exactMatch Orphanet:525738 semapv:UnspecifiedMatching +obo:GARD_22192 Encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:527276 semapv:UnspecifiedMatching +obo:GARD_22193 Diaphragmatic hernia-short bowel-asplenia syndrome skos:exactMatch Orphanet:527468 semapv:UnspecifiedMatching +obo:GARD_22194 Hereditary angioedema with C1Inh deficiency skos:exactMatch Orphanet:528623 semapv:UnspecifiedMatching +obo:GARD_22195 Hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:528647 semapv:UnspecifiedMatching +obo:GARD_22196 Acquired angioedema with C1Inh deficiency skos:exactMatch Orphanet:528663 semapv:UnspecifiedMatching +obo:GARD_22197 Acute bilirubin encephalopathy skos:exactMatch Orphanet:529799 semapv:UnspecifiedMatching +obo:GARD_22198 Chronic bilirubin encephalopathy skos:exactMatch Orphanet:529808 semapv:UnspecifiedMatching +obo:GARD_22199 Letrozole toxicity skos:exactMatch Orphanet:529831 semapv:UnspecifiedMatching +obo:GARD_22200 Combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch Orphanet:529852 semapv:UnspecifiedMatching +obo:GARD_22201 Secondary erythromelalgia skos:exactMatch Orphanet:529864 semapv:UnspecifiedMatching +obo:GARD_22202 17q24.2 microdeletion syndrome skos:exactMatch Orphanet:529962 semapv:UnspecifiedMatching +obo:GARD_22203 Immune dysregulation with inflammatory bowel disease skos:exactMatch Orphanet:529974 semapv:UnspecifiedMatching +obo:GARD_22204 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch Orphanet:529977 semapv:UnspecifiedMatching +obo:GARD_22205 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:exactMatch Orphanet:529980 semapv:UnspecifiedMatching +obo:GARD_22206 Dermoid or epidermoid cyst of the central nervous system skos:exactMatch Orphanet:530033 semapv:UnspecifiedMatching +obo:GARD_22207 Progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:exactMatch Orphanet:530298 semapv:UnspecifiedMatching +obo:GARD_22208 Progressive dementia with neuroserpin inclusion bodies skos:exactMatch Orphanet:530303 semapv:UnspecifiedMatching +obo:GARD_22209 PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 semapv:UnspecifiedMatching +obo:GARD_2221 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch Orphanet:1969 semapv:UnspecifiedMatching +obo:GARD_22210 RELA fusion-positive ependymoma skos:exactMatch Orphanet:530792 semapv:UnspecifiedMatching +obo:GARD_22211 Lamb-Shaffer syndrome skos:exactMatch Orphanet:530983 semapv:UnspecifiedMatching +obo:GARD_22212 9q21.13 microdeletion syndrome skos:exactMatch Orphanet:531151 semapv:UnspecifiedMatching +obo:GARD_22213 RASopathy skos:exactMatch Orphanet:536391 semapv:UnspecifiedMatching +obo:GARD_22214 Spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536471 semapv:UnspecifiedMatching +obo:GARD_22215 Myopathic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536516 semapv:UnspecifiedMatching +obo:GARD_22216 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency skos:exactMatch Orphanet:1900 semapv:UnspecifiedMatching +obo:GARD_22216 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency skos:narrowMatch OMIM:225400 semapv:UnspecifiedMatching +obo:GARD_22217 PLG-related hereditary angioedema with normal C1Inh skos:exactMatch Orphanet:537072 semapv:UnspecifiedMatching +obo:GARD_22218 Congenital axonal neuropathy with encephalopathy skos:exactMatch Orphanet:538101 semapv:UnspecifiedMatching +obo:GARD_22219 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect skos:exactMatch Orphanet:538238 semapv:UnspecifiedMatching +obo:GARD_2222 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch Orphanet:1970 semapv:UnspecifiedMatching +obo:GARD_2222 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:narrowMatch OMIM:220219 semapv:UnspecifiedMatching +obo:GARD_22220 Classic pyoderma gangrenosum skos:exactMatch Orphanet:538863 semapv:UnspecifiedMatching +obo:GARD_22221 Pustular pyoderma gangrenosum skos:exactMatch Orphanet:538866 semapv:UnspecifiedMatching +obo:GARD_22222 Bullous pyoderma gangrenosum skos:exactMatch Orphanet:538869 semapv:UnspecifiedMatching +obo:GARD_22223 Vegetative pyoderma gangrenosum skos:exactMatch Orphanet:538872 semapv:UnspecifiedMatching +obo:GARD_22224 Anomalous aortic origin of the left coronary artery skos:exactMatch Orphanet:541443 semapv:UnspecifiedMatching +obo:GARD_22225 Anomalous aortic origin of the right coronary artery skos:exactMatch Orphanet:541454 semapv:UnspecifiedMatching +obo:GARD_22226 Anomalous aortic origin of coronary artery skos:exactMatch Orphanet:541478 semapv:UnspecifiedMatching +obo:GARD_22227 Anomalous origin of coronary artery from the pulmonary artery skos:exactMatch Orphanet:541507 semapv:UnspecifiedMatching +obo:GARD_22228 CAR T cell therapy-associated cytokine release syndrome skos:exactMatch Orphanet:542323 semapv:UnspecifiedMatching +obo:GARD_22229 Quadricuspid aortic valve skos:exactMatch Orphanet:542568 semapv:UnspecifiedMatching +obo:GARD_22230 Anomaly of the coronary ostia skos:exactMatch Orphanet:542822 semapv:UnspecifiedMatching +obo:GARD_22231 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:exactMatch Orphanet:543470 semapv:UnspecifiedMatching +obo:GARD_22232 SYNGAP1-related developmental and epileptic encephalopathy skos:exactMatch Orphanet:544254 semapv:UnspecifiedMatching +obo:GARD_22233 Hemolytic uremic syndrome skos:exactMatch Orphanet:544458 semapv:UnspecifiedMatching +obo:GARD_22234 Infection-related hemolytic uremic syndrome skos:exactMatch Orphanet:544482 semapv:UnspecifiedMatching +obo:GARD_22235 Streptococcus pneumoniae-associated hemolytic uremic syndrome skos:exactMatch Orphanet:544493 semapv:UnspecifiedMatching +obo:GARD_22236 Congenital primary megaureter, refluxing and obstructed form skos:exactMatch Orphanet:544578 semapv:UnspecifiedMatching +obo:GARD_22237 Collagen-related glomerular basement membrane disease skos:exactMatch Orphanet:544590 semapv:UnspecifiedMatching +obo:GARD_22238 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:exactMatch Orphanet:544628 semapv:UnspecifiedMatching +obo:GARD_22239 Fibrohistiocytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555434 semapv:UnspecifiedMatching +obo:GARD_22240 Lymphoplasmacytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555437 semapv:UnspecifiedMatching +obo:GARD_22241 Congenital tricuspid valve dysplasia skos:exactMatch Orphanet:555874 semapv:UnspecifiedMatching +obo:GARD_22242 IgA pemphigus skos:exactMatch Orphanet:555905 semapv:UnspecifiedMatching +obo:GARD_22243 Early-onset familial hypoaldosteronism skos:exactMatch Orphanet:556030 semapv:UnspecifiedMatching +obo:GARD_22244 Late-onset familial hypoaldosteronism skos:exactMatch Orphanet:556037 semapv:UnspecifiedMatching +obo:GARD_22245 Rare disorder due to poisoning skos:exactMatch Orphanet:556508 semapv:UnspecifiedMatching +obo:GARD_22246 Early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:exactMatch Orphanet:556985 semapv:UnspecifiedMatching +obo:GARD_22247 Spastic ataxia-dysarthria due to glutaminase deficiency skos:exactMatch Orphanet:557056 semapv:UnspecifiedMatching +obo:GARD_22248 Rare disorder with Hirschsprung disease as a major feature skos:exactMatch Orphanet:557866 semapv:UnspecifiedMatching +obo:GARD_22249 Idiopathic gastroparesis skos:exactMatch Orphanet:558411 semapv:UnspecifiedMatching +obo:GARD_22250 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:exactMatch Orphanet:562639 semapv:UnspecifiedMatching +obo:GARD_22251 Autoimmune hepatitis type 1 skos:exactMatch Orphanet:563576 semapv:UnspecifiedMatching +obo:GARD_22252 Autoimmune hepatitis type 2 skos:exactMatch Orphanet:563581 semapv:UnspecifiedMatching +obo:GARD_22253 Seronegative autoimmune hepatitis skos:exactMatch Orphanet:563589 semapv:UnspecifiedMatching +obo:GARD_22254 Isolated anencephaly skos:exactMatch Orphanet:563609 semapv:UnspecifiedMatching +obo:GARD_22255 Isolated exencephaly skos:exactMatch Orphanet:563612 semapv:UnspecifiedMatching +obo:GARD_22256 Serous cystadenoma of childhood skos:exactMatch Orphanet:563666 semapv:UnspecifiedMatching +obo:GARD_22257 Mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 semapv:UnspecifiedMatching +obo:GARD_22258 Seromucinous cystadenoma of childhood skos:exactMatch Orphanet:563676 semapv:UnspecifiedMatching +obo:GARD_22259 Furuncular myiasis due to Dermatobia hominis skos:exactMatch Orphanet:563684 semapv:UnspecifiedMatching +obo:GARD_22260 Furuncular myiasis due to Cordylobia anthropophaga skos:exactMatch Orphanet:563687 semapv:UnspecifiedMatching +obo:GARD_22261 Furuncular myiasis due to Cordylobia rodhaini skos:exactMatch Orphanet:563690 semapv:UnspecifiedMatching +obo:GARD_22262 Syndromic congenital sodium diarrhea skos:exactMatch Orphanet:563708 semapv:UnspecifiedMatching +obo:GARD_22263 Isolated congenital aglossia skos:exactMatch Orphanet:563951 semapv:UnspecifiedMatching +obo:GARD_22264 Isolated congenital hypoglossia skos:exactMatch Orphanet:563954 semapv:UnspecifiedMatching +obo:GARD_22265 Genetic nephrotic syndrome skos:exactMatch Orphanet:564127 semapv:UnspecifiedMatching +obo:GARD_22266 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome skos:exactMatch Orphanet:564178 semapv:UnspecifiedMatching +obo:GARD_22267 Triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:565612 semapv:UnspecifiedMatching +obo:GARD_22268 Primary desmosis coli skos:exactMatch Orphanet:565641 semapv:UnspecifiedMatching +obo:GARD_22269 Methotrexate toxicity skos:exactMatch Orphanet:565782 semapv:UnspecifiedMatching +obo:GARD_22270 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 skos:exactMatch Orphanet:565837 semapv:UnspecifiedMatching +obo:GARD_22271 POMGNT2-related limb-girdle muscular dystrophy R24 skos:exactMatch Orphanet:565899 semapv:UnspecifiedMatching +obo:GARD_22272 Calpain-3-related limb-girdle muscular dystrophy D4 skos:exactMatch Orphanet:565909 semapv:UnspecifiedMatching +obo:GARD_22273 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch Orphanet:566067 semapv:UnspecifiedMatching +obo:GARD_22274 Congenital autosomal recessive small-platelet thrombocytopenia skos:exactMatch Orphanet:566192 semapv:UnspecifiedMatching +obo:GARD_22275 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:exactMatch Orphanet:566231 semapv:UnspecifiedMatching +obo:GARD_22276 Acute mast cell leukemia skos:exactMatch Orphanet:566393 semapv:UnspecifiedMatching +obo:GARD_22277 Chronic mast cell leukemia skos:exactMatch Orphanet:566396 semapv:UnspecifiedMatching +obo:GARD_22278 Liver adenomatosis skos:exactMatch Orphanet:566841 semapv:UnspecifiedMatching +obo:GARD_22279 Aprosencephaly/atelencephaly spectrum skos:exactMatch Orphanet:566847 semapv:UnspecifiedMatching +obo:GARD_22280 Atelencephaly skos:exactMatch Orphanet:566852 semapv:UnspecifiedMatching +obo:GARD_22281 Aprosencephaly skos:exactMatch Orphanet:566857 semapv:UnspecifiedMatching +obo:GARD_22282 Left sided atrial isomerism skos:exactMatch Orphanet:566862 semapv:UnspecifiedMatching +obo:GARD_22283 Mueller-Weiss syndrome skos:exactMatch Orphanet:566943 semapv:UnspecifiedMatching +obo:GARD_22284 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch Orphanet:567502 semapv:UnspecifiedMatching +obo:GARD_22285 Idiopathic non-lupus full-house nephropathy skos:exactMatch Orphanet:567544 semapv:UnspecifiedMatching +obo:GARD_22286 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:exactMatch Orphanet:567546 semapv:UnspecifiedMatching +obo:GARD_22287 Idiopathic multidrug-resistant nephrotic syndrome skos:exactMatch Orphanet:567550 semapv:UnspecifiedMatching +obo:GARD_22288 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:exactMatch Orphanet:567552 semapv:UnspecifiedMatching +obo:GARD_22289 Systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567554 semapv:UnspecifiedMatching +obo:GARD_2229 Lethal faciocardiomelic dysplasia skos:exactMatch Orphanet:1972 semapv:UnspecifiedMatching +obo:GARD_2229 Lethal faciocardiomelic dysplasia skos:narrowMatch OMIM:227270 semapv:UnspecifiedMatching +obo:GARD_22290 Genetic systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567556 semapv:UnspecifiedMatching +obo:GARD_22291 Non-genetic systemic disease with glomerulopathy as a major feature skos:exactMatch Orphanet:567558 semapv:UnspecifiedMatching +obo:GARD_22292 Systemic vasculitis associated with glomerulopathy skos:exactMatch Orphanet:567560 semapv:UnspecifiedMatching +obo:GARD_22293 Disorder with multisystemic involvement and glomerulopathy skos:exactMatch Orphanet:567562 semapv:UnspecifiedMatching +obo:GARD_22294 Nephrotic syndrome without extrarenal manifestations skos:exactMatch Orphanet:567564 semapv:UnspecifiedMatching +obo:GARD_22295 Parenteral nutrition-associated cholestasis skos:exactMatch Orphanet:567983 semapv:UnspecifiedMatching +obo:GARD_22296 Primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 semapv:UnspecifiedMatching +obo:GARD_22297 Primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 semapv:UnspecifiedMatching +obo:GARD_22298 Disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 semapv:UnspecifiedMatching +obo:GARD_22299 GJC2-related late-onset primary lymphedema skos:exactMatch Orphanet:568051 semapv:UnspecifiedMatching +obo:GARD_223 Vestibular schwannoma skos:exactMatch Orphanet:252175 semapv:UnspecifiedMatching +obo:GARD_2230 Faciocardiorenal syndrome skos:exactMatch Orphanet:1973 semapv:UnspecifiedMatching +obo:GARD_2230 Faciocardiorenal syndrome skos:narrowMatch OMIM:227280 semapv:UnspecifiedMatching +obo:GARD_22300 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:exactMatch Orphanet:568056 semapv:UnspecifiedMatching +obo:GARD_22301 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:exactMatch Orphanet:568062 semapv:UnspecifiedMatching +obo:GARD_22302 EPHB4-related lymphatic-related hydrops fetalis skos:exactMatch Orphanet:568065 semapv:UnspecifiedMatching +obo:GARD_22303 Angiomatoid fibrous histiocytoma skos:exactMatch Orphanet:569164 semapv:UnspecifiedMatching +obo:GARD_22304 Microcystic stromal tumor skos:exactMatch Orphanet:569248 semapv:UnspecifiedMatching +obo:GARD_22305 Multiple mitochondrial dysfunctions syndrome type 5 skos:exactMatch Orphanet:569274 semapv:UnspecifiedMatching +obo:GARD_22306 CELSR1-related late-onset primary lymphedema skos:exactMatch Orphanet:569816 semapv:UnspecifiedMatching +obo:GARD_22307 Congenital primary lymphedema of Gordon skos:exactMatch Orphanet:569821 semapv:UnspecifiedMatching +obo:GARD_22308 Bartter syndrome type 5 skos:exactMatch Orphanet:570371 semapv:UnspecifiedMatching +obo:GARD_22309 Idiopathic multicentric Castleman disease skos:exactMatch Orphanet:570431 semapv:UnspecifiedMatching +obo:GARD_22310 HHV-8-associated multicentric Castleman disease skos:exactMatch Orphanet:570438 semapv:UnspecifiedMatching +obo:GARD_22311 Ricin poisoning skos:exactMatch Orphanet:570470 semapv:UnspecifiedMatching +obo:GARD_22312 Blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:exactMatch Orphanet:572333 semapv:UnspecifiedMatching +obo:GARD_22313 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:exactMatch Orphanet:572428 semapv:UnspecifiedMatching +obo:GARD_22314 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch Orphanet:572761 semapv:UnspecifiedMatching +obo:GARD_22315 Pheochromocytoma-paraganglioma skos:exactMatch Orphanet:573163 semapv:UnspecifiedMatching +obo:GARD_22316 Split cord malformation type II skos:exactMatch Orphanet:573253 semapv:UnspecifiedMatching +obo:GARD_22317 Split cord malformation skos:exactMatch Orphanet:573278 semapv:UnspecifiedMatching +obo:GARD_22318 Predisposition to severe viral infection due to IRF7 deficiency skos:exactMatch Orphanet:574918 semapv:UnspecifiedMatching +obo:GARD_22319 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency skos:exactMatch Orphanet:574957 semapv:UnspecifiedMatching +obo:GARD_22320 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy skos:exactMatch Orphanet:575553 semapv:UnspecifiedMatching +obo:GARD_22321 Middle East respiratory syndrome skos:exactMatch Orphanet:576074 semapv:UnspecifiedMatching +obo:GARD_22322 Complete atrioventricular septal defect without ventricular hypoplasia skos:exactMatch Orphanet:576227 semapv:UnspecifiedMatching +obo:GARD_22323 Partial atrioventricular septal defect with ventricular hypoplasia skos:exactMatch Orphanet:576232 semapv:UnspecifiedMatching +obo:GARD_22324 Partial atrioventricular septal defect without ventricular hypoplasia skos:exactMatch Orphanet:576235 semapv:UnspecifiedMatching +obo:GARD_22325 Intermediate atrioventricular septal defect skos:exactMatch Orphanet:576242 semapv:UnspecifiedMatching +obo:GARD_22326 SATB2-associated syndrome skos:exactMatch Orphanet:576278 semapv:UnspecifiedMatching +obo:GARD_22327 Sporadic human prion disease skos:exactMatch Orphanet:576356 semapv:UnspecifiedMatching +obo:GARD_22328 Acquired human prion disease skos:exactMatch Orphanet:576360 semapv:UnspecifiedMatching +obo:GARD_22329 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576379 semapv:UnspecifiedMatching +obo:GARD_22330 Genetic hemolytic uremic syndrome skos:exactMatch Orphanet:576742 semapv:UnspecifiedMatching +obo:GARD_22331 Intraductal tubulopapillary neoplasm of pancreas skos:exactMatch Orphanet:580572 semapv:UnspecifiedMatching +obo:GARD_22332 Lethal brain and heart developmental defects skos:exactMatch Orphanet:580933 semapv:UnspecifiedMatching +obo:GARD_22333 Congenital infiltrating lipomatosis of the face skos:exactMatch Orphanet:583097 semapv:UnspecifiedMatching +obo:GARD_22334 Serine biosynthesis pathway deficiency, infantile/juvenile form skos:exactMatch Orphanet:583595 semapv:UnspecifiedMatching +obo:GARD_22335 Neu-laxova syndrome due to phosphoserine aminotransferase deficiency skos:exactMatch Orphanet:583602 semapv:UnspecifiedMatching +obo:GARD_22336 Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency skos:exactMatch Orphanet:583607 semapv:UnspecifiedMatching +obo:GARD_22337 Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:exactMatch Orphanet:583612 semapv:UnspecifiedMatching +obo:GARD_22338 Isolated splenic vein thrombosis skos:exactMatch Orphanet:583856 semapv:UnspecifiedMatching +obo:GARD_22339 Isolated mesenteric vein thrombosis skos:exactMatch Orphanet:583861 semapv:UnspecifiedMatching +obo:GARD_22340 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:585867 semapv:UnspecifiedMatching +obo:GARD_22341 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch Orphanet:585877 semapv:UnspecifiedMatching +obo:GARD_22342 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:585909 semapv:UnspecifiedMatching +obo:GARD_22343 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:exactMatch Orphanet:585918 semapv:UnspecifiedMatching +obo:GARD_22344 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch Orphanet:585929 semapv:UnspecifiedMatching +obo:GARD_22345 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch Orphanet:585936 semapv:UnspecifiedMatching +obo:GARD_22346 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch Orphanet:585942 semapv:UnspecifiedMatching +obo:GARD_22347 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch Orphanet:585948 semapv:UnspecifiedMatching +obo:GARD_22348 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) skos:exactMatch Orphanet:585956 semapv:UnspecifiedMatching +obo:GARD_22349 Sporadic fatal insomnia skos:exactMatch Orphanet:586130 semapv:UnspecifiedMatching +obo:GARD_22350 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome skos:exactMatch Orphanet:589442 semapv:UnspecifiedMatching +obo:GARD_22351 PUM1-associated developmental disability-ataxia-seizure syndrome skos:exactMatch Orphanet:589515 semapv:UnspecifiedMatching +obo:GARD_22352 Spinocerebellar ataxia type 46 skos:exactMatch Orphanet:589522 semapv:UnspecifiedMatching +obo:GARD_22353 Spinocerebellar ataxia type 45 skos:exactMatch Orphanet:589527 semapv:UnspecifiedMatching +obo:GARD_22354 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:589534 semapv:UnspecifiedMatching +obo:GARD_22355 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch Orphanet:589542 semapv:UnspecifiedMatching +obo:GARD_22356 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:exactMatch Orphanet:589547 semapv:UnspecifiedMatching +obo:GARD_22357 Mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch Orphanet:589595 semapv:UnspecifiedMatching +obo:GARD_22358 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:exactMatch Orphanet:589608 semapv:UnspecifiedMatching +obo:GARD_22359 Dystonia 28 skos:exactMatch Orphanet:589618 semapv:UnspecifiedMatching +obo:GARD_22360 Inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 semapv:UnspecifiedMatching +obo:GARD_22361 Congenital-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589821 semapv:UnspecifiedMatching +obo:GARD_22362 Childhood-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589824 semapv:UnspecifiedMatching +obo:GARD_22363 Juvenile-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589827 semapv:UnspecifiedMatching +obo:GARD_22364 Adult-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589830 semapv:UnspecifiedMatching +obo:GARD_22365 Late-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589833 semapv:UnspecifiedMatching +obo:GARD_22366 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch Orphanet:589856 semapv:UnspecifiedMatching +obo:GARD_22367 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch Orphanet:589905 semapv:UnspecifiedMatching +obo:GARD_22368 Isolated melanotic schwannoma skos:exactMatch Orphanet:590539 semapv:UnspecifiedMatching +obo:GARD_22369 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:exactMatch Orphanet:592564 semapv:UnspecifiedMatching +obo:GARD_2237 Congenital factor V deficiency skos:exactMatch Orphanet:326 semapv:UnspecifiedMatching +obo:GARD_2237 Congenital factor V deficiency skos:narrowMatch OMIM:227400 semapv:UnspecifiedMatching +obo:GARD_22370 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:exactMatch Orphanet:592570 semapv:UnspecifiedMatching +obo:GARD_22371 Menke-Hennekam syndrome skos:exactMatch Orphanet:592574 semapv:UnspecifiedMatching +obo:GARD_22372 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch Orphanet:592850 semapv:UnspecifiedMatching +obo:GARD_22373 Neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch Orphanet:592856 semapv:UnspecifiedMatching +obo:GARD_22374 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:exactMatch Orphanet:592869 semapv:UnspecifiedMatching +obo:GARD_22375 Acute transverse myelitis with anti-MOG antibodies skos:exactMatch Orphanet:592873 semapv:UnspecifiedMatching +obo:GARD_22376 Isolated optic neuritis without anti-MOG antibodies skos:exactMatch Orphanet:592885 semapv:UnspecifiedMatching +obo:GARD_22377 Isolated optic neuritis with anti-MOG antibodies skos:exactMatch Orphanet:592888 semapv:UnspecifiedMatching +obo:GARD_22378 Acute disseminated encephalomyelitis with anti-MOG antibodies skos:exactMatch Orphanet:592894 semapv:UnspecifiedMatching +obo:GARD_22379 Acute disseminated encephalomyelitis without anti-MOG antibodies skos:exactMatch Orphanet:592900 semapv:UnspecifiedMatching +obo:GARD_2238 Congenital factor VII deficiency skos:exactMatch Orphanet:327 semapv:UnspecifiedMatching +obo:GARD_2238 Congenital factor VII deficiency skos:narrowMatch OMIM:227500 semapv:UnspecifiedMatching +obo:GARD_22380 Timothy syndrome type 1 skos:exactMatch Orphanet:595098 semapv:UnspecifiedMatching +obo:GARD_22381 Timothy syndrome type 2 skos:exactMatch Orphanet:595105 semapv:UnspecifiedMatching +obo:GARD_22382 Atypical Timothy syndrome skos:exactMatch Orphanet:595109 semapv:UnspecifiedMatching +obo:GARD_22383 Perivascular epithelioid cell neoplasm skos:exactMatch Orphanet:595133 semapv:UnspecifiedMatching +obo:GARD_22384 Fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 semapv:UnspecifiedMatching +obo:GARD_22385 Adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 semapv:UnspecifiedMatching +obo:GARD_22386 Epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 semapv:UnspecifiedMatching +obo:GARD_22387 Epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 semapv:UnspecifiedMatching +obo:GARD_22388 Localized dystrophic epidermolysis bullosa skos:exactMatch Orphanet:595356 semapv:UnspecifiedMatching +obo:GARD_22389 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis skos:exactMatch Orphanet:596008 semapv:UnspecifiedMatching +obo:GARD_22390 Syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 semapv:UnspecifiedMatching +obo:GARD_22391 IgG4-related systemic disease skos:exactMatch Orphanet:596448 semapv:UnspecifiedMatching +obo:GARD_22392 Combined immunodeficiency due to RELA haploinsufficiency skos:exactMatch Orphanet:596759 semapv:UnspecifiedMatching +obo:GARD_22393 Portosinusoidal vascular disease skos:exactMatch Orphanet:596937 semapv:UnspecifiedMatching +obo:GARD_22394 Incomplete septal cirrhosis skos:exactMatch Orphanet:596941 semapv:UnspecifiedMatching +obo:GARD_22395 TRIM22-related inflammatory bowel disease skos:exactMatch Orphanet:597201 semapv:UnspecifiedMatching +obo:GARD_22396 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome skos:exactMatch Orphanet:597623 semapv:UnspecifiedMatching +obo:GARD_22397 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:exactMatch Orphanet:597743 semapv:UnspecifiedMatching +obo:GARD_22398 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:exactMatch Orphanet:597746 semapv:UnspecifiedMatching +obo:GARD_22399 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch Orphanet:597749 semapv:UnspecifiedMatching +obo:GARD_224 Radio-renal syndrome skos:exactMatch Orphanet:3015 semapv:UnspecifiedMatching +obo:GARD_224 Radio-renal syndrome skos:narrowMatch OMIM:179280 semapv:UnspecifiedMatching +obo:GARD_22400 ALPI-related inflammatory bowel disease skos:exactMatch Orphanet:597887 semapv:UnspecifiedMatching +obo:GARD_22401 Euthyroid dysprealbuminemic hyperthyroxinemia skos:exactMatch Orphanet:597939 semapv:UnspecifiedMatching +obo:GARD_22402 FOXG1 syndrome due to intragenic alteration skos:exactMatch Orphanet:598164 semapv:UnspecifiedMatching +obo:GARD_22403 Multisystem inflammatory syndrome in children and adults skos:exactMatch Orphanet:598363 semapv:UnspecifiedMatching +obo:GARD_22404 STXBP1-related encephalopathy skos:exactMatch Orphanet:599373 semapv:UnspecifiedMatching +obo:GARD_22405 Hypomyelination of early myelinating structures skos:exactMatch Orphanet:599376 semapv:UnspecifiedMatching +obo:GARD_22406 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant skos:exactMatch Orphanet:599418 semapv:UnspecifiedMatching +obo:GARD_22407 Acquired hemophilia B skos:exactMatch Orphanet:599485 semapv:UnspecifiedMatching +obo:GARD_22408 Acquired factor V deficiency skos:exactMatch Orphanet:599490 semapv:UnspecifiedMatching +obo:GARD_22409 Acquired factor VII deficiency skos:exactMatch Orphanet:599495 semapv:UnspecifiedMatching +obo:GARD_22410 Acquired factor X deficiency skos:exactMatch Orphanet:599501 semapv:UnspecifiedMatching +obo:GARD_22411 Acquired factor XI deficiency skos:exactMatch Orphanet:599507 semapv:UnspecifiedMatching +obo:GARD_22412 Acquired factor XIII deficiency skos:exactMatch Orphanet:599513 semapv:UnspecifiedMatching +obo:GARD_22413 Factor V short isoforms-related bleeding disorder skos:exactMatch Orphanet:599519 semapv:UnspecifiedMatching +obo:GARD_22414 Factor V Amsterdam bleeding disorder skos:exactMatch Orphanet:599579 semapv:UnspecifiedMatching +obo:GARD_22415 Factor V Atlanta bleeding disorder skos:exactMatch Orphanet:600194 semapv:UnspecifiedMatching +obo:GARD_22416 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:exactMatch Orphanet:600663 semapv:UnspecifiedMatching +obo:GARD_22417 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:600668 semapv:UnspecifiedMatching +obo:GARD_22418 Combined deficiency of factor VII and factor X skos:exactMatch Orphanet:600691 semapv:UnspecifiedMatching +obo:GARD_22419 Legionellosis skos:exactMatch Orphanet:600832 semapv:UnspecifiedMatching +obo:GARD_22420 Non-syndromic anorectal malformation with perineal fistula skos:exactMatch Orphanet:600952 semapv:UnspecifiedMatching +obo:GARD_22421 Non-syndromic anorectal malformation with rectourethral fistula skos:exactMatch Orphanet:600961 semapv:UnspecifiedMatching +obo:GARD_22422 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:exactMatch Orphanet:600966 semapv:UnspecifiedMatching +obo:GARD_22423 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:exactMatch Orphanet:600975 semapv:UnspecifiedMatching +obo:GARD_22424 Non-syndromic anorectal malformation with rectovesical fistula skos:exactMatch Orphanet:600984 semapv:UnspecifiedMatching +obo:GARD_22425 Non-syndromic anorectal malformation with vestibular fistula skos:exactMatch Orphanet:600993 semapv:UnspecifiedMatching +obo:GARD_22426 Non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 semapv:UnspecifiedMatching +obo:GARD_22427 Non-syndromic anorectal malformation without fistula skos:exactMatch Orphanet:601002 semapv:UnspecifiedMatching +obo:GARD_22428 Non-syndromic anorectal malformation with anal stenosis skos:exactMatch Orphanet:601008 semapv:UnspecifiedMatching +obo:GARD_22429 Non-syndromic anorectal malformation with pouch colon skos:exactMatch Orphanet:601013 semapv:UnspecifiedMatching +obo:GARD_22430 Non-syndromic anorectal malformation with rectal atresia skos:exactMatch Orphanet:601018 semapv:UnspecifiedMatching +obo:GARD_22431 Non-syndromic anorectal malformation with rectal stenosis skos:exactMatch Orphanet:601023 semapv:UnspecifiedMatching +obo:GARD_22432 Non-syndromic anorectal malformation with rectovaginal fistula skos:exactMatch Orphanet:601028 semapv:UnspecifiedMatching +obo:GARD_22433 Non-syndromic anorectal malformation with H-type fistula skos:exactMatch Orphanet:601033 semapv:UnspecifiedMatching +obo:GARD_22434 Isolated female hypospadias skos:exactMatch Orphanet:603515 semapv:UnspecifiedMatching +obo:GARD_22435 KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome skos:exactMatch Orphanet:603684 semapv:UnspecifiedMatching +obo:GARD_22436 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch Orphanet:603689 semapv:UnspecifiedMatching +obo:GARD_22437 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch Orphanet:603694 semapv:UnspecifiedMatching +obo:GARD_22438 KLHL7-related disorder skos:exactMatch Orphanet:603699 semapv:UnspecifiedMatching +obo:GARD_22439 Symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch Orphanet:604680 semapv:UnspecifiedMatching +obo:GARD_22440 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 semapv:UnspecifiedMatching +obo:GARD_22441 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 semapv:UnspecifiedMatching +obo:GARD_22442 Granuloma faciale skos:exactMatch Orphanet:615943 semapv:UnspecifiedMatching +obo:GARD_22443 Chronic intervillositis of unknown etiology skos:exactMatch Orphanet:615970 semapv:UnspecifiedMatching +obo:GARD_22444 Rare disorder without a determined diagnosis after full investigation skos:exactMatch Orphanet:616874 semapv:UnspecifiedMatching +obo:GARD_22445 Twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 semapv:UnspecifiedMatching +obo:GARD_22446 Twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 semapv:UnspecifiedMatching +obo:GARD_22447 Selective intrauterine growth restriction skos:exactMatch Orphanet:617301 semapv:UnspecifiedMatching +obo:GARD_22448 Amniotic fluid embolism skos:exactMatch Orphanet:617304 semapv:UnspecifiedMatching +obo:GARD_22449 Rare disorder related to monochorionic twin pregnancy skos:exactMatch Orphanet:617307 semapv:UnspecifiedMatching +obo:GARD_2245 Tetralogy of Fallot skos:exactMatch Orphanet:3303 semapv:UnspecifiedMatching +obo:GARD_2245 Tetralogy of Fallot skos:narrowMatch OMIM:187500 semapv:UnspecifiedMatching +obo:GARD_2245 Tetralogy of Fallot skos:narrowMatch OMIM:618780 semapv:UnspecifiedMatching +obo:GARD_22450 Rare disorder due to unbalanced inter-twin blood transfusion skos:exactMatch Orphanet:617310 semapv:UnspecifiedMatching +obo:GARD_22451 Rare disorder due to inadequate sharing of the placenta skos:exactMatch Orphanet:617313 semapv:UnspecifiedMatching +obo:GARD_22452 Classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 semapv:UnspecifiedMatching +obo:GARD_22453 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 semapv:UnspecifiedMatching +obo:GARD_22454 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 semapv:UnspecifiedMatching +obo:GARD_22455 Hemophilia B Leyden skos:exactMatch Orphanet:617930 semapv:UnspecifiedMatching +obo:GARD_22456 Chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 semapv:UnspecifiedMatching +obo:GARD_22457 Acid sphingomyelinase deficiency skos:exactMatch Orphanet:618899 semapv:UnspecifiedMatching +obo:GARD_22458 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 semapv:UnspecifiedMatching +obo:GARD_22459 Rare hereditary connective tissue disease skos:exactMatch Orphanet:619249 semapv:UnspecifiedMatching +obo:GARD_22460 Narcolepsy skos:exactMatch Orphanet:619284 semapv:UnspecifiedMatching +obo:GARD_22461 Inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 semapv:UnspecifiedMatching +obo:GARD_22462 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 semapv:UnspecifiedMatching +obo:GARD_22463 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 semapv:UnspecifiedMatching +obo:GARD_22464 Immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 semapv:UnspecifiedMatching +obo:GARD_22465 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 semapv:UnspecifiedMatching +obo:GARD_22466 Familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 semapv:UnspecifiedMatching +obo:GARD_22467 CADINS disease skos:exactMatch Orphanet:619972 semapv:UnspecifiedMatching +obo:GARD_22468 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 semapv:UnspecifiedMatching +obo:GARD_22469 Non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 semapv:UnspecifiedMatching +obo:GARD_22470 Non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 semapv:UnspecifiedMatching +obo:GARD_22471 Non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 semapv:UnspecifiedMatching +obo:GARD_22472 Non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 semapv:UnspecifiedMatching +obo:GARD_22473 Non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 semapv:UnspecifiedMatching +obo:GARD_22474 Non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 semapv:UnspecifiedMatching +obo:GARD_22475 Non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 semapv:UnspecifiedMatching +obo:GARD_22476 Non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 semapv:UnspecifiedMatching +obo:GARD_22477 Non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 semapv:UnspecifiedMatching +obo:GARD_22478 Non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 semapv:UnspecifiedMatching +obo:GARD_22479 Non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 semapv:UnspecifiedMatching +obo:GARD_22480 Non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 semapv:UnspecifiedMatching +obo:GARD_22481 Non-syndromic pansynostosis skos:exactMatch Orphanet:620212 semapv:UnspecifiedMatching +obo:GARD_22482 Bartter syndrome type 1 skos:exactMatch Orphanet:620217 semapv:UnspecifiedMatching +obo:GARD_22483 Bartter syndrome type 2 skos:exactMatch Orphanet:620220 semapv:UnspecifiedMatching +obo:GARD_22484 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 semapv:UnspecifiedMatching +obo:GARD_22485 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 semapv:UnspecifiedMatching +obo:GARD_22486 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 semapv:UnspecifiedMatching +obo:GARD_22487 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:exactMatch Orphanet:621758 semapv:UnspecifiedMatching +obo:GARD_22488 Genetic autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:622720 semapv:UnspecifiedMatching +obo:GARD_22489 Rare genetic nevus skos:exactMatch Orphanet:622914 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:132900 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:607086 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:607087 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:609192 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:610168 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:611788 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:613780 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:614816 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:615436 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:615582 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:616166 semapv:UnspecifiedMatching +obo:GARD_2249 Familial thoracic aortic aneurysm and aortic dissection skos:narrowMatch OMIM:617168 semapv:UnspecifiedMatching +obo:GARD_22490 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:exactMatch Orphanet:622925 semapv:UnspecifiedMatching +obo:GARD_22491 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 semapv:UnspecifiedMatching +obo:GARD_22492 Autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 semapv:UnspecifiedMatching +obo:GARD_22493 Paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 semapv:UnspecifiedMatching +obo:GARD_22494 Immune-mediated cerebellar ataxia skos:exactMatch Orphanet:623638 semapv:UnspecifiedMatching +obo:GARD_22495 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 semapv:UnspecifiedMatching +obo:GARD_22496 Body integrity dysphoria skos:exactMatch Orphanet:623789 semapv:UnspecifiedMatching +obo:GARD_22497 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 semapv:UnspecifiedMatching +obo:GARD_22498 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 semapv:UnspecifiedMatching +obo:GARD_22499 Paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 semapv:UnspecifiedMatching +obo:GARD_225 Radial hemimelia skos:exactMatch Orphanet:93321 semapv:UnspecifiedMatching +obo:GARD_2250 Band heterotopia skos:broadMatch Orphanet:99796 semapv:UnspecifiedMatching +obo:GARD_2250 Band heterotopia skos:exactMatch OMIM:600348 semapv:UnspecifiedMatching +obo:GARD_22500 Non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 semapv:UnspecifiedMatching +obo:GARD_22501 Non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 semapv:UnspecifiedMatching +obo:GARD_22502 Postinfectious cerebellitis skos:exactMatch Orphanet:624244 semapv:UnspecifiedMatching +obo:GARD_22503 Non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 semapv:UnspecifiedMatching +obo:GARD_22504 Non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch Orphanet:624268 semapv:UnspecifiedMatching +obo:GARD_22505 Rare teratologic disease skos:exactMatch Orphanet:52662 semapv:UnspecifiedMatching +obo:GARD_22506 Rare hepatic disease skos:exactMatch Orphanet:57146 semapv:UnspecifiedMatching +obo:GARD_22507 Rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 semapv:UnspecifiedMatching +obo:GARD_22508 Rare inborn errors of metabolism skos:exactMatch Orphanet:68367 semapv:UnspecifiedMatching +obo:GARD_22509 Rare infectious disease skos:exactMatch Orphanet:68416 semapv:UnspecifiedMatching +obo:GARD_22510 Rare skin disease skos:exactMatch Orphanet:89826 semapv:UnspecifiedMatching +obo:GARD_22511 Rare bone disease skos:exactMatch Orphanet:93419 semapv:UnspecifiedMatching +obo:GARD_22512 Rare renal disease skos:exactMatch Orphanet:93626 semapv:UnspecifiedMatching +obo:GARD_22513 Rare developmental defect during embryogenesis skos:exactMatch Orphanet:93890 semapv:UnspecifiedMatching +obo:GARD_22514 Rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 semapv:UnspecifiedMatching +obo:GARD_22515 Rare cardiac disease skos:exactMatch Orphanet:97929 semapv:UnspecifiedMatching +obo:GARD_22516 Rare gastroenterologic disease skos:exactMatch Orphanet:97935 semapv:UnspecifiedMatching +obo:GARD_22517 Rare respiratory disease skos:exactMatch Orphanet:97955 semapv:UnspecifiedMatching +obo:GARD_22518 Rare surgical thoracic disease skos:exactMatch Orphanet:97962 semapv:UnspecifiedMatching +obo:GARD_22519 Rare surgical cardiac disease skos:exactMatch Orphanet:97965 semapv:UnspecifiedMatching +obo:GARD_2252 Non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:467 semapv:UnspecifiedMatching +obo:GARD_22520 Rare ophthalmic disorder skos:exactMatch Orphanet:97966 semapv:UnspecifiedMatching +obo:GARD_22521 Rare endocrine disease skos:exactMatch Orphanet:97978 semapv:UnspecifiedMatching +obo:GARD_22522 Rare hematologic disease skos:exactMatch Orphanet:97992 semapv:UnspecifiedMatching +obo:GARD_22523 Rare immune disease skos:exactMatch Orphanet:98004 semapv:UnspecifiedMatching +obo:GARD_22524 Rare neurologic disease skos:exactMatch Orphanet:98006 semapv:UnspecifiedMatching +obo:GARD_22525 Rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 semapv:UnspecifiedMatching +obo:GARD_22526 Rare odontologic disease skos:exactMatch Orphanet:98026 semapv:UnspecifiedMatching +obo:GARD_22527 Rare circulatory system disease skos:exactMatch Orphanet:98028 semapv:UnspecifiedMatching +obo:GARD_22528 Rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 semapv:UnspecifiedMatching +obo:GARD_22529 Rare infertility skos:exactMatch Orphanet:98047 semapv:UnspecifiedMatching +obo:GARD_22530 Rare allergic disease skos:exactMatch Orphanet:98050 semapv:UnspecifiedMatching +obo:GARD_22531 Rare genetic disease skos:exactMatch Orphanet:98053 semapv:UnspecifiedMatching +obo:GARD_22532 Rare urogenital disease skos:exactMatch Orphanet:101433 semapv:UnspecifiedMatching +obo:GARD_22533 Rare disorder due to toxic effects skos:exactMatch Orphanet:108999 semapv:UnspecifiedMatching +obo:GARD_22534 Rare abdominal surgical disease skos:exactMatch Orphanet:165711 semapv:UnspecifiedMatching +obo:GARD_22535 Rare neoplastic disease skos:exactMatch Orphanet:250908 semapv:UnspecifiedMatching +obo:GARD_22536 Rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 semapv:UnspecifiedMatching +obo:GARD_22537 Intellectual developmental disorder, autosomal recessive 1 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22537 Intellectual developmental disorder, autosomal recessive 1 skos:exactMatch OMIM:249500 semapv:UnspecifiedMatching +obo:GARD_22538 Intellectual developmental disorder, autosomal recessive 2 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22538 Intellectual developmental disorder, autosomal recessive 2 skos:exactMatch OMIM:607417 semapv:UnspecifiedMatching +obo:GARD_22539 Intellectual developmental disorder, autosomal recessive 3 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22539 Intellectual developmental disorder, autosomal recessive 3 skos:exactMatch OMIM:608443 semapv:UnspecifiedMatching +obo:GARD_2254 Familial nasal acilia skos:exactMatch Orphanet:922 semapv:UnspecifiedMatching +obo:GARD_22540 Intellectual developmental disorder, autosomal recessive 12 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22540 Intellectual developmental disorder, autosomal recessive 12 skos:exactMatch OMIM:611090 semapv:UnspecifiedMatching +obo:GARD_22541 Intellectual developmental disorder, autosomal recessive 5 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22541 Intellectual developmental disorder, autosomal recessive 5 skos:exactMatch OMIM:611091 semapv:UnspecifiedMatching +obo:GARD_22542 Intellectual developmental disorder, autosomal recessive 6 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22542 Intellectual developmental disorder, autosomal recessive 6 skos:exactMatch OMIM:611092 semapv:UnspecifiedMatching +obo:GARD_22543 Intellectual developmental disorder, autosomal recessive 7 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22543 Intellectual developmental disorder, autosomal recessive 7 skos:exactMatch OMIM:611093 semapv:UnspecifiedMatching +obo:GARD_22544 Intellectual developmental disorder, autosomal recessive 9 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22544 Intellectual developmental disorder, autosomal recessive 9 skos:exactMatch OMIM:611095 semapv:UnspecifiedMatching +obo:GARD_22545 Intellectual developmental disorder, autosomal recessive 10 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22545 Intellectual developmental disorder, autosomal recessive 10 skos:exactMatch OMIM:611096 semapv:UnspecifiedMatching +obo:GARD_22546 Intellectual developmental disorder, autosomal recessive 11 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22546 Intellectual developmental disorder, autosomal recessive 11 skos:exactMatch OMIM:611097 semapv:UnspecifiedMatching +obo:GARD_22547 Intellectual developmental disorder, autosomal recessive 4 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22547 Intellectual developmental disorder, autosomal recessive 4 skos:exactMatch OMIM:611107 semapv:UnspecifiedMatching +obo:GARD_22548 Intellectual developmental disorder, autosomal recessive 13 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22548 Intellectual developmental disorder, autosomal recessive 13 skos:exactMatch OMIM:613192 semapv:UnspecifiedMatching +obo:GARD_22549 Intellectual developmental disorder, autosomal recessive 14 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22549 Intellectual developmental disorder, autosomal recessive 14 skos:exactMatch OMIM:614020 semapv:UnspecifiedMatching +obo:GARD_22550 Rafiq syndrome skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22550 Rafiq syndrome skos:exactMatch OMIM:614202 semapv:UnspecifiedMatching +obo:GARD_22551 Intellectual developmental disorder, autosomal recessive 16 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22551 Intellectual developmental disorder, autosomal recessive 16 skos:exactMatch OMIM:614208 semapv:UnspecifiedMatching +obo:GARD_22552 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22552 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy skos:exactMatch OMIM:614249 semapv:UnspecifiedMatching +obo:GARD_22553 Intellectual developmental disorder, autosomal recessive 31 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22553 Intellectual developmental disorder, autosomal recessive 31 skos:exactMatch OMIM:614329 semapv:UnspecifiedMatching +obo:GARD_22554 Intellectual developmental disorder, autosomal recessive 29 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22554 Intellectual developmental disorder, autosomal recessive 29 skos:exactMatch OMIM:614333 semapv:UnspecifiedMatching +obo:GARD_22555 Intellectual developmental disorder, autosomal recessive 27 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22555 Intellectual developmental disorder, autosomal recessive 27 skos:exactMatch OMIM:614340 semapv:UnspecifiedMatching +obo:GARD_22556 Intellectual developmental disorder, autosomal recessive 33 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22556 Intellectual developmental disorder, autosomal recessive 33 skos:exactMatch OMIM:614341 semapv:UnspecifiedMatching +obo:GARD_22557 Intellectual developmental disorder, autosomal recessive 30 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22557 Intellectual developmental disorder, autosomal recessive 30 skos:exactMatch OMIM:614342 semapv:UnspecifiedMatching +obo:GARD_22558 Intellectual developmental disorder, autosomal recessive 19 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22558 Intellectual developmental disorder, autosomal recessive 19 skos:exactMatch OMIM:614343 semapv:UnspecifiedMatching +obo:GARD_22559 Intellectual developmental disorder, autosomal recessive 23 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22559 Intellectual developmental disorder, autosomal recessive 23 skos:exactMatch OMIM:614344 semapv:UnspecifiedMatching +obo:GARD_2256 Polydactyly of an index finger skos:exactMatch Orphanet:93337 semapv:UnspecifiedMatching +obo:GARD_2256 Polydactyly of an index finger skos:narrowMatch OMIM:174600 semapv:UnspecifiedMatching +obo:GARD_22560 Intellectual developmental disorder, autosomal recessive 24 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22560 Intellectual developmental disorder, autosomal recessive 24 skos:exactMatch OMIM:614345 semapv:UnspecifiedMatching +obo:GARD_22561 Intellectual developmental disorder, autosomal recessive 25 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22561 Intellectual developmental disorder, autosomal recessive 25 skos:exactMatch OMIM:614346 semapv:UnspecifiedMatching +obo:GARD_22562 Intellectual developmental disorder, autosomal recessive 28 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22562 Intellectual developmental disorder, autosomal recessive 28 skos:exactMatch OMIM:614347 semapv:UnspecifiedMatching +obo:GARD_22563 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22563 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly skos:exactMatch OMIM:614499 semapv:UnspecifiedMatching +obo:GARD_22564 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22564 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities skos:exactMatch OMIM:615802 semapv:UnspecifiedMatching +obo:GARD_22565 Intellectual developmental disorder, autosomal recessive 43 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22565 Intellectual developmental disorder, autosomal recessive 43 skos:exactMatch OMIM:615817 semapv:UnspecifiedMatching +obo:GARD_22566 Intellectual developmental disorder, autosomal recessive 44 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22566 Intellectual developmental disorder, autosomal recessive 44 skos:exactMatch OMIM:615942 semapv:UnspecifiedMatching +obo:GARD_22567 Intellectual developmental disorder, autosomal recessive 45 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22567 Intellectual developmental disorder, autosomal recessive 45 skos:exactMatch OMIM:615979 semapv:UnspecifiedMatching +obo:GARD_22568 Intellectual developmental disorder, autosomal recessive 46 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22568 Intellectual developmental disorder, autosomal recessive 46 skos:exactMatch OMIM:616116 semapv:UnspecifiedMatching +obo:GARD_22569 Intellectual developmental disorder, autosomal recessive 47 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22569 Intellectual developmental disorder, autosomal recessive 47 skos:exactMatch OMIM:616193 semapv:UnspecifiedMatching +obo:GARD_2257 Autosomal dominant epilepsy with auditory features skos:exactMatch Orphanet:101046 semapv:UnspecifiedMatching +obo:GARD_2257 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:600512 semapv:UnspecifiedMatching +obo:GARD_2257 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:616436 semapv:UnspecifiedMatching +obo:GARD_2257 Autosomal dominant epilepsy with auditory features skos:narrowMatch OMIM:616461 semapv:UnspecifiedMatching +obo:GARD_22570 Intellectual developmental disorder, autosomal recessive 50 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22570 Intellectual developmental disorder, autosomal recessive 50 skos:exactMatch OMIM:616460 semapv:UnspecifiedMatching +obo:GARD_22571 Intellectual developmental disorder, autosomal recessive 51 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22571 Intellectual developmental disorder, autosomal recessive 51 skos:exactMatch OMIM:616739 semapv:UnspecifiedMatching +obo:GARD_22572 Intellectual developmental disorder, autosomal recessive 52 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22572 Intellectual developmental disorder, autosomal recessive 52 skos:exactMatch OMIM:616887 semapv:UnspecifiedMatching +obo:GARD_22573 Intellectual developmental disorder, autosomal recessive 54 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22573 Intellectual developmental disorder, autosomal recessive 54 skos:exactMatch OMIM:617028 semapv:UnspecifiedMatching +obo:GARD_22574 Intellectual developmental disorder, autosomal recessive 56 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22574 Intellectual developmental disorder, autosomal recessive 56 skos:exactMatch OMIM:617125 semapv:UnspecifiedMatching +obo:GARD_22575 Intellectual developmental disorder, autosomal recessive 57 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22575 Intellectual developmental disorder, autosomal recessive 57 skos:exactMatch OMIM:617188 semapv:UnspecifiedMatching +obo:GARD_22576 Neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22576 Neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:exactMatch OMIM:617709 semapv:UnspecifiedMatching +obo:GARD_22577 Glycosylphosphatidylinositol biosynthesis defect 16 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22577 Glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch OMIM:617816 semapv:UnspecifiedMatching +obo:GARD_22578 Intellectual developmental disorder, autosomal recessive 65 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22578 Intellectual developmental disorder, autosomal recessive 65 skos:exactMatch OMIM:618109 semapv:UnspecifiedMatching +obo:GARD_22579 Intellectual developmental disorder, autosomal recessive 66 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22579 Intellectual developmental disorder, autosomal recessive 66 skos:exactMatch OMIM:618221 semapv:UnspecifiedMatching +obo:GARD_2258 Familial porencephaly skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching +obo:GARD_2258 Familial porencephaly skos:narrowMatch OMIM:175780 semapv:UnspecifiedMatching +obo:GARD_2258 Familial porencephaly skos:narrowMatch OMIM:614483 semapv:UnspecifiedMatching +obo:GARD_22580 Intellectual developmental disorder, autosomal recessive 70 skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22580 Intellectual developmental disorder, autosomal recessive 70 skos:exactMatch OMIM:618402 semapv:UnspecifiedMatching +obo:GARD_22581 Intellectual developmental disorder with short stature and behavioral abnormalities skos:broadMatch Orphanet:88616 semapv:UnspecifiedMatching +obo:GARD_22581 Intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch OMIM:618687 semapv:UnspecifiedMatching +obo:GARD_22582 Deafness, autosomal recessive 2 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22582 Deafness, autosomal recessive 2 skos:exactMatch OMIM:600060 semapv:UnspecifiedMatching +obo:GARD_22583 Deafness, autosomal recessive 3 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22583 Deafness, autosomal recessive 3 skos:exactMatch OMIM:600316 semapv:UnspecifiedMatching +obo:GARD_22584 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22584 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct skos:exactMatch OMIM:600791 semapv:UnspecifiedMatching +obo:GARD_22585 Deafness, autosomal recessive 5 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22585 Deafness, autosomal recessive 5 skos:exactMatch OMIM:600792 semapv:UnspecifiedMatching +obo:GARD_22586 Deafness, autosomal recessive 6 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22586 Deafness, autosomal recessive 6 skos:exactMatch OMIM:600971 semapv:UnspecifiedMatching +obo:GARD_22587 Deafness, autosomal recessive 7 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22587 Deafness, autosomal recessive 7 skos:exactMatch OMIM:600974 semapv:UnspecifiedMatching +obo:GARD_22588 Deafness, autosomal recessive 9 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22588 Deafness, autosomal recessive 9 skos:exactMatch OMIM:601071 semapv:UnspecifiedMatching +obo:GARD_22589 Deafness, autosomal recessive 8 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22589 Deafness, autosomal recessive 8 skos:exactMatch OMIM:601072 semapv:UnspecifiedMatching +obo:GARD_2259 Familial supernumerary nipples skos:exactMatch Orphanet:2456 semapv:UnspecifiedMatching +obo:GARD_2259 Familial supernumerary nipples skos:narrowMatch OMIM:163700 semapv:UnspecifiedMatching +obo:GARD_22590 Deafness, autosomal recessive 12 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22590 Deafness, autosomal recessive 12 skos:exactMatch OMIM:601386 semapv:UnspecifiedMatching +obo:GARD_22591 Deafness, autosomal recessive 15 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22591 Deafness, autosomal recessive 15 skos:exactMatch OMIM:601869 semapv:UnspecifiedMatching +obo:GARD_22592 Deafness, autosomal recessive 18a skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22592 Deafness, autosomal recessive 18a skos:exactMatch OMIM:602092 semapv:UnspecifiedMatching +obo:GARD_22593 Deafness, autosomal recessive 17 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22593 Deafness, autosomal recessive 17 skos:exactMatch OMIM:603010 semapv:UnspecifiedMatching +obo:GARD_22594 Deafness, autosomal recessive 13 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22594 Deafness, autosomal recessive 13 skos:exactMatch OMIM:603098 semapv:UnspecifiedMatching +obo:GARD_22595 Deafness, autosomal recessive 21 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22595 Deafness, autosomal recessive 21 skos:exactMatch OMIM:603629 semapv:UnspecifiedMatching +obo:GARD_22596 Deafness, autosomal recessive 14 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22596 Deafness, autosomal recessive 14 skos:exactMatch OMIM:603678 semapv:UnspecifiedMatching +obo:GARD_22597 Deafness, autosomal recessive 16 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22597 Deafness, autosomal recessive 16 skos:exactMatch OMIM:603720 semapv:UnspecifiedMatching +obo:GARD_22598 Deafness, autosomal recessive 20 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22598 Deafness, autosomal recessive 20 skos:exactMatch OMIM:604060 semapv:UnspecifiedMatching +obo:GARD_22599 Deafness, autosomal recessive 26 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22599 Deafness, autosomal recessive 26 skos:exactMatch OMIM:605428 semapv:UnspecifiedMatching +obo:GARD_226 Rabson-Mendenhall syndrome skos:exactMatch Orphanet:769 semapv:UnspecifiedMatching +obo:GARD_226 Rabson-Mendenhall syndrome skos:narrowMatch OMIM:262190 semapv:UnspecifiedMatching +obo:GARD_22600 Deafness, autosomal recessive 27 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22600 Deafness, autosomal recessive 27 skos:exactMatch OMIM:605818 semapv:UnspecifiedMatching +obo:GARD_22601 Deafness, autosomal recessive 22 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22601 Deafness, autosomal recessive 22 skos:exactMatch OMIM:607039 semapv:UnspecifiedMatching +obo:GARD_22602 Deafness, autosomal recessive 31 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22602 Deafness, autosomal recessive 31 skos:exactMatch OMIM:607084 semapv:UnspecifiedMatching +obo:GARD_22603 Deafness, autosomal recessive 30 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22603 Deafness, autosomal recessive 30 skos:exactMatch OMIM:607101 semapv:UnspecifiedMatching +obo:GARD_22604 Deafness, autosomal recessive 33 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22604 Deafness, autosomal recessive 33 skos:exactMatch OMIM:607239 semapv:UnspecifiedMatching +obo:GARD_22605 Deafness, autosomal recessive 37 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22605 Deafness, autosomal recessive 37 skos:exactMatch OMIM:607821 semapv:UnspecifiedMatching +obo:GARD_22606 Deafness, autosomal recessive 38 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22606 Deafness, autosomal recessive 38 skos:exactMatch OMIM:608219 semapv:UnspecifiedMatching +obo:GARD_22607 Deafness, autosomal recessive 40 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22607 Deafness, autosomal recessive 40 skos:exactMatch OMIM:608264 semapv:UnspecifiedMatching +obo:GARD_22608 Deafness, autosomal recessive 39 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22608 Deafness, autosomal recessive 39 skos:exactMatch OMIM:608265 semapv:UnspecifiedMatching +obo:GARD_22609 Deafness, autosomal recessive 35 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22609 Deafness, autosomal recessive 35 skos:exactMatch OMIM:608565 semapv:UnspecifiedMatching +obo:GARD_22610 Deafness, autosomal recessive 32, with or without immotile sperm skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22610 Deafness, autosomal recessive 32, with or without immotile sperm skos:exactMatch OMIM:608653 semapv:UnspecifiedMatching +obo:GARD_22611 Deafness, autosomal recessive 36, with or without vestibular involvement skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22611 Deafness, autosomal recessive 36, with or without vestibular involvement skos:exactMatch OMIM:609006 semapv:UnspecifiedMatching +obo:GARD_22612 Deafness, autosomal recessive 48 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22612 Deafness, autosomal recessive 48 skos:exactMatch OMIM:609439 semapv:UnspecifiedMatching +obo:GARD_22613 Deafness, autosomal recessive 23 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22613 Deafness, autosomal recessive 23 skos:exactMatch OMIM:609533 semapv:UnspecifiedMatching +obo:GARD_22614 Deafness, autosomal recessive 42 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22614 Deafness, autosomal recessive 42 skos:exactMatch OMIM:609646 semapv:UnspecifiedMatching +obo:GARD_22615 Deafness, autosomal recessive 46 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22615 Deafness, autosomal recessive 46 skos:exactMatch OMIM:609647 semapv:UnspecifiedMatching +obo:GARD_22616 Deafness, autosomal recessive 53 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22616 Deafness, autosomal recessive 53 skos:exactMatch OMIM:609706 semapv:UnspecifiedMatching +obo:GARD_22617 Deafness, autosomal recessive 28 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22617 Deafness, autosomal recessive 28 skos:exactMatch OMIM:609823 semapv:UnspecifiedMatching +obo:GARD_22618 Deafness, autosomal recessive 62 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22618 Deafness, autosomal recessive 62 skos:exactMatch OMIM:610143 semapv:UnspecifiedMatching +obo:GARD_22619 Deafness, autosomal recessive 49 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22619 Deafness, autosomal recessive 49 skos:exactMatch OMIM:610153 semapv:UnspecifiedMatching +obo:GARD_22620 Deafness, autosomal recessive 44 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22620 Deafness, autosomal recessive 44 skos:exactMatch OMIM:610154 semapv:UnspecifiedMatching +obo:GARD_22621 Deafness, autosomal recessive 66 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22621 Deafness, autosomal recessive 66 skos:exactMatch OMIM:610212 semapv:UnspecifiedMatching +obo:GARD_22622 Deafness, autosomal recessive 59 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22622 Deafness, autosomal recessive 59 skos:exactMatch OMIM:610220 semapv:UnspecifiedMatching +obo:GARD_22623 Deafness, autosomal recessive 65 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22623 Deafness, autosomal recessive 65 skos:exactMatch OMIM:610248 semapv:UnspecifiedMatching +obo:GARD_22624 Deafness, autosomal recessive 67 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22624 Deafness, autosomal recessive 67 skos:exactMatch OMIM:610265 semapv:UnspecifiedMatching +obo:GARD_22625 Deafness, autosomal recessive 68 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22625 Deafness, autosomal recessive 68 skos:exactMatch OMIM:610419 semapv:UnspecifiedMatching +obo:GARD_22626 Deafness, autosomal recessive 24 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22626 Deafness, autosomal recessive 24 skos:exactMatch OMIM:611022 semapv:UnspecifiedMatching +obo:GARD_22627 Deafness, autosomal recessive 63 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22627 Deafness, autosomal recessive 63 skos:exactMatch OMIM:611451 semapv:UnspecifiedMatching +obo:GARD_22628 Deafness, autosomal recessive 45 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22628 Deafness, autosomal recessive 45 skos:exactMatch OMIM:612433 semapv:UnspecifiedMatching +obo:GARD_22629 Deafness, autosomal recessive 1b skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22629 Deafness, autosomal recessive 1b skos:exactMatch OMIM:612645 semapv:UnspecifiedMatching +obo:GARD_22630 Deafness, autosomal recessive 71 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22630 Deafness, autosomal recessive 71 skos:exactMatch OMIM:612789 semapv:UnspecifiedMatching +obo:GARD_22631 Deafness, autosomal recessive 77 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22631 Deafness, autosomal recessive 77 skos:exactMatch OMIM:613079 semapv:UnspecifiedMatching +obo:GARD_22632 Deafness, autosomal recessive 25 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22632 Deafness, autosomal recessive 25 skos:exactMatch OMIM:613285 semapv:UnspecifiedMatching +obo:GARD_22633 Deafness, autosomal recessive 79 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22633 Deafness, autosomal recessive 79 skos:exactMatch OMIM:613307 semapv:UnspecifiedMatching +obo:GARD_22634 Deafness, autosomal recessive 84a skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22634 Deafness, autosomal recessive 84a skos:exactMatch OMIM:613391 semapv:UnspecifiedMatching +obo:GARD_22635 Deafness, autosomal recessive 85 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22635 Deafness, autosomal recessive 85 skos:exactMatch OMIM:613392 semapv:UnspecifiedMatching +obo:GARD_22636 Deafness, autosomal recessive 91 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22636 Deafness, autosomal recessive 91 skos:exactMatch OMIM:613453 semapv:UnspecifiedMatching +obo:GARD_22637 Deafness, autosomal recessive 83 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22637 Deafness, autosomal recessive 83 skos:exactMatch OMIM:613685 semapv:UnspecifiedMatching +obo:GARD_22638 Deafness, autosomal recessive 74 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22638 Deafness, autosomal recessive 74 skos:exactMatch OMIM:613718 semapv:UnspecifiedMatching +obo:GARD_22639 Deafness, autosomal recessive 61 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22639 Deafness, autosomal recessive 61 skos:exactMatch OMIM:613865 semapv:UnspecifiedMatching +obo:GARD_22640 Deafness, autosomal recessive 89 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22640 Deafness, autosomal recessive 89 skos:exactMatch OMIM:613916 semapv:UnspecifiedMatching +obo:GARD_22641 Deafness, autosomal recessive 29 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22641 Deafness, autosomal recessive 29 skos:exactMatch OMIM:614035 semapv:UnspecifiedMatching +obo:GARD_22642 Deafness, autosomal recessive 96 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22642 Deafness, autosomal recessive 96 skos:exactMatch OMIM:614414 semapv:UnspecifiedMatching +obo:GARD_22643 Deafness, autosomal recessive 86 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22643 Deafness, autosomal recessive 86 skos:exactMatch OMIM:614617 semapv:UnspecifiedMatching +obo:GARD_22644 Deafness, autosomal recessive 98 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22644 Deafness, autosomal recessive 98 skos:exactMatch OMIM:614861 semapv:UnspecifiedMatching +obo:GARD_22645 Deafness, autosomal recessive 93 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22645 Deafness, autosomal recessive 93 skos:exactMatch OMIM:614899 semapv:UnspecifiedMatching +obo:GARD_22646 Deafness, autosomal recessive 70 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22646 Deafness, autosomal recessive 70 skos:exactMatch OMIM:614934 semapv:UnspecifiedMatching +obo:GARD_22647 Deafness, autosomal recessive 84b skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22647 Deafness, autosomal recessive 84b skos:exactMatch OMIM:614944 semapv:UnspecifiedMatching +obo:GARD_22648 Deafness, autosomal recessive 18b skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22648 Deafness, autosomal recessive 18b skos:exactMatch OMIM:614945 semapv:UnspecifiedMatching +obo:GARD_22649 Deafness, autosomal recessive 88 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22649 Deafness, autosomal recessive 88 skos:exactMatch OMIM:615429 semapv:UnspecifiedMatching +obo:GARD_22650 Deafness, autosomal recessive 76 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22650 Deafness, autosomal recessive 76 skos:exactMatch OMIM:615540 semapv:UnspecifiedMatching +obo:GARD_22651 Deafness, autosomal recessive 101 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22651 Deafness, autosomal recessive 101 skos:exactMatch OMIM:615837 semapv:UnspecifiedMatching +obo:GARD_22652 Deafness, autosomal recessive 102 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22652 Deafness, autosomal recessive 102 skos:exactMatch OMIM:615974 semapv:UnspecifiedMatching +obo:GARD_22653 Deafness, autosomal recessive 103 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22653 Deafness, autosomal recessive 103 skos:exactMatch OMIM:616042 semapv:UnspecifiedMatching +obo:GARD_22654 Deafness, autosomal recessive 104 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22654 Deafness, autosomal recessive 104 skos:exactMatch OMIM:616515 semapv:UnspecifiedMatching +obo:GARD_22655 Deafness, autosomal recessive 97 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22655 Deafness, autosomal recessive 97 skos:exactMatch OMIM:616705 semapv:UnspecifiedMatching +obo:GARD_22656 Deafness, autosomal recessive 106 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22656 Deafness, autosomal recessive 106 skos:exactMatch OMIM:617637 semapv:UnspecifiedMatching +obo:GARD_22657 Deafness, autosomal recessive 107 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22657 Deafness, autosomal recessive 107 skos:exactMatch OMIM:617639 semapv:UnspecifiedMatching +obo:GARD_22658 Deafness, autosomal recessive 108 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22658 Deafness, autosomal recessive 108 skos:exactMatch OMIM:617654 semapv:UnspecifiedMatching +obo:GARD_22659 Deafness, autosomal recessive 111 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22659 Deafness, autosomal recessive 111 skos:exactMatch OMIM:618145 semapv:UnspecifiedMatching +obo:GARD_22660 Deafness, autosomal recessive 100 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22660 Deafness, autosomal recessive 100 skos:exactMatch OMIM:618422 semapv:UnspecifiedMatching +obo:GARD_22661 Deafness, autosomal recessive 94 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22661 Deafness, autosomal recessive 94 skos:exactMatch OMIM:618434 semapv:UnspecifiedMatching +obo:GARD_22662 Deafness, autosomal recessive 114 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22662 Deafness, autosomal recessive 114 skos:exactMatch OMIM:618456 semapv:UnspecifiedMatching +obo:GARD_22663 Deafness, autosomal recessive 99 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22663 Deafness, autosomal recessive 99 skos:exactMatch OMIM:618481 semapv:UnspecifiedMatching +obo:GARD_22664 Deafness, autosomal recessive 116 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22664 Deafness, autosomal recessive 116 skos:exactMatch OMIM:619093 semapv:UnspecifiedMatching +obo:GARD_22665 Deafness, autosomal recessive 117 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_22665 Deafness, autosomal recessive 117 skos:exactMatch OMIM:619174 semapv:UnspecifiedMatching +obo:GARD_22666 Intellectual developmental disorder, x-linked 23 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22666 Intellectual developmental disorder, x-linked 23 skos:exactMatch OMIM:300046 semapv:UnspecifiedMatching +obo:GARD_22667 Intellectual developmental disorder, x-linked 20 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22667 Intellectual developmental disorder, x-linked 20 skos:exactMatch OMIM:300047 semapv:UnspecifiedMatching +obo:GARD_22668 Intellectual developmental disorder, x-linked 50 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22668 Intellectual developmental disorder, x-linked 50 skos:exactMatch OMIM:300115 semapv:UnspecifiedMatching +obo:GARD_22669 Intellectual developmental disorder, x-linked 21 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22669 Intellectual developmental disorder, x-linked 21 skos:exactMatch OMIM:300143 semapv:UnspecifiedMatching +obo:GARD_22670 Intellectual developmental disorder, x-linked 58 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22670 Intellectual developmental disorder, x-linked 58 skos:exactMatch OMIM:300210 semapv:UnspecifiedMatching +obo:GARD_22671 Intellectual developmental disorder, x-linked 72 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22671 Intellectual developmental disorder, x-linked 72 skos:exactMatch OMIM:300271 semapv:UnspecifiedMatching +obo:GARD_22672 Intellectual developmental disorder, x-linked 53 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22672 Intellectual developmental disorder, x-linked 53 skos:exactMatch OMIM:300324 semapv:UnspecifiedMatching +obo:GARD_22673 Intellectual developmental disorder, x-linked 73 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22673 Intellectual developmental disorder, x-linked 73 skos:exactMatch OMIM:300355 semapv:UnspecifiedMatching +obo:GARD_22674 Intellectual developmental disorder, x-linked 42 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22674 Intellectual developmental disorder, x-linked 42 skos:exactMatch OMIM:300372 semapv:UnspecifiedMatching +obo:GARD_22675 Intellectual developmental disorder, x-linked 2 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22675 Intellectual developmental disorder, x-linked 2 skos:exactMatch OMIM:300428 semapv:UnspecifiedMatching +obo:GARD_22676 Intellectual developmental disorder, x-linked 81 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22676 Intellectual developmental disorder, x-linked 81 skos:exactMatch OMIM:300433 semapv:UnspecifiedMatching +obo:GARD_22677 Intellectual developmental disorder, x-linked 46 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22677 Intellectual developmental disorder, x-linked 46 skos:exactMatch OMIM:300436 semapv:UnspecifiedMatching +obo:GARD_22678 Intellectual developmental disorder, x-linked 77 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22678 Intellectual developmental disorder, x-linked 77 skos:exactMatch OMIM:300454 semapv:UnspecifiedMatching +obo:GARD_22679 Intellectual developmental disorder, x-linked 45 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22679 Intellectual developmental disorder, x-linked 45 skos:exactMatch OMIM:300498 semapv:UnspecifiedMatching +obo:GARD_2268 Fanconi-Bickel syndrome skos:exactMatch Orphanet:2088 semapv:UnspecifiedMatching +obo:GARD_2268 Fanconi-Bickel syndrome skos:narrowMatch OMIM:227810 semapv:UnspecifiedMatching +obo:GARD_22680 Intellectual developmental disorder, x-linked 84 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22680 Intellectual developmental disorder, x-linked 84 skos:exactMatch OMIM:300505 semapv:UnspecifiedMatching +obo:GARD_22681 Mental retardation, x-linked 82 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22681 Mental retardation, x-linked 82 skos:exactMatch OMIM:300518 semapv:UnspecifiedMatching +obo:GARD_22682 Intellectual developmental disorder, x-linked 30 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22682 Intellectual developmental disorder, x-linked 30 skos:exactMatch OMIM:300558 semapv:UnspecifiedMatching +obo:GARD_22683 Chromosome xp11.22 duplication syndrome skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22683 Chromosome xp11.22 duplication syndrome skos:exactMatch OMIM:300705 semapv:UnspecifiedMatching +obo:GARD_22684 Intellectual developmental disorder, x-linked 95 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22684 Intellectual developmental disorder, x-linked 95 skos:exactMatch OMIM:300716 semapv:UnspecifiedMatching +obo:GARD_22685 Intellectual developmental disorder, x-linked 96 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22685 Intellectual developmental disorder, x-linked 96 skos:exactMatch OMIM:300802 semapv:UnspecifiedMatching +obo:GARD_22686 Intellectual developmental disorder, x-linked 97 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22686 Intellectual developmental disorder, x-linked 97 skos:exactMatch OMIM:300803 semapv:UnspecifiedMatching +obo:GARD_22687 Intellectual developmental disorder, x-linked 19 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22687 Intellectual developmental disorder, x-linked 19 skos:exactMatch OMIM:300844 semapv:UnspecifiedMatching +obo:GARD_22688 Mental retardation, x-linked 89 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22688 Mental retardation, x-linked 89 skos:exactMatch OMIM:300848 semapv:UnspecifiedMatching +obo:GARD_22689 Intellectual developmental disorder, x-linked 41 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22689 Intellectual developmental disorder, x-linked 41 skos:exactMatch OMIM:300849 semapv:UnspecifiedMatching +obo:GARD_22690 Intellectual developmental disorder, x-linked 90 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22690 Intellectual developmental disorder, x-linked 90 skos:exactMatch OMIM:300850 semapv:UnspecifiedMatching +obo:GARD_22691 Mental retardation, x-linked 92 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22691 Mental retardation, x-linked 92 skos:exactMatch OMIM:300851 semapv:UnspecifiedMatching +obo:GARD_22692 Mental retardation, x-linked 88 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22692 Mental retardation, x-linked 88 skos:exactMatch OMIM:300852 semapv:UnspecifiedMatching +obo:GARD_22693 Intellectual developmental disorder, x-linked 99 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22693 Intellectual developmental disorder, x-linked 99 skos:exactMatch OMIM:300919 semapv:UnspecifiedMatching +obo:GARD_22694 Intellectual developmental disorder, x-linked 101 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22694 Intellectual developmental disorder, x-linked 101 skos:exactMatch OMIM:300928 semapv:UnspecifiedMatching +obo:GARD_22695 Tonne-kalscheuer syndrome skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22695 Tonne-kalscheuer syndrome skos:exactMatch OMIM:300978 semapv:UnspecifiedMatching +obo:GARD_22696 Intellectual developmental disorder, x-linked 104 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22696 Intellectual developmental disorder, x-linked 104 skos:exactMatch OMIM:300983 semapv:UnspecifiedMatching +obo:GARD_22697 Intellectual developmental disorder, x-linked 105 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22697 Intellectual developmental disorder, x-linked 105 skos:exactMatch OMIM:300984 semapv:UnspecifiedMatching +obo:GARD_22698 Intellectual developmental disorder, x-linked 107 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22698 Intellectual developmental disorder, x-linked 107 skos:exactMatch OMIM:301013 semapv:UnspecifiedMatching +obo:GARD_22699 Intellectual developmental disorder, x-linked 1 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22699 Intellectual developmental disorder, x-linked 1 skos:exactMatch OMIM:309530 semapv:UnspecifiedMatching +obo:GARD_22700 Intellectual developmental disorder, x-linked 9 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_22700 Intellectual developmental disorder, x-linked 9 skos:exactMatch OMIM:309549 semapv:UnspecifiedMatching +obo:GARD_2276 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch Orphanet:2064 semapv:UnspecifiedMatching +obo:GARD_2276 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:narrowMatch OMIM:192800 semapv:UnspecifiedMatching +obo:GARD_2279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch Orphanet:1192 semapv:UnspecifiedMatching +obo:GARD_2279 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:narrowMatch OMIM:209010 semapv:UnspecifiedMatching +obo:GARD_2285 Gollop-Wolfgang complex skos:exactMatch Orphanet:1986 semapv:UnspecifiedMatching +obo:GARD_2285 Gollop-Wolfgang complex skos:narrowMatch OMIM:228250 semapv:UnspecifiedMatching +obo:GARD_2286 Femur-fibula-ulna complex skos:exactMatch Orphanet:2019 semapv:UnspecifiedMatching +obo:GARD_2286 Femur-fibula-ulna complex skos:narrowMatch OMIM:228200 semapv:UnspecifiedMatching +obo:GARD_2287 Ataxia-photosensitivity-short stature syndrome skos:exactMatch Orphanet:1184 semapv:UnspecifiedMatching +obo:GARD_229 Gómez-López-Hernández syndrome skos:exactMatch Orphanet:1532 semapv:UnspecifiedMatching +obo:GARD_229 Gómez-López-Hernández syndrome skos:narrowMatch OMIM:601853 semapv:UnspecifiedMatching +obo:GARD_2293 Fetal akinesia syndrome, x-linked skos:broadMatch Orphanet:994 semapv:UnspecifiedMatching +obo:GARD_2293 Fetal akinesia syndrome, x-linked skos:exactMatch OMIM:300073 semapv:UnspecifiedMatching +obo:GARD_2294 Aminopterin/methotrexate embryofetopathy skos:exactMatch Orphanet:1908 semapv:UnspecifiedMatching +obo:GARD_2295 Fetal and neonatal alloimmune thrombocytopenia skos:exactMatch Orphanet:853 semapv:UnspecifiedMatching +obo:GARD_23 Blepharophimosis-ptosis-epicanthus inversus syndrome skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching +obo:GARD_23 Blepharophimosis-ptosis-epicanthus inversus syndrome skos:narrowMatch OMIM:110100 semapv:UnspecifiedMatching +obo:GARD_230 Microcephaly-deafness-intellectual disability syndrome skos:exactMatch Orphanet:2533 semapv:UnspecifiedMatching +obo:GARD_230 Microcephaly-deafness-intellectual disability syndrome skos:narrowMatch OMIM:156620 semapv:UnspecifiedMatching +obo:GARD_2303 Indomethacin embryofetopathy skos:exactMatch Orphanet:1909 semapv:UnspecifiedMatching +obo:GARD_2304 Fetal iodine syndrome skos:exactMatch Orphanet:1910 semapv:UnspecifiedMatching +obo:GARD_2304 Fetal iodine syndrome skos:narrowMatch OMIM:228355 semapv:UnspecifiedMatching +obo:GARD_2305 Congenital left ventricular aneurysm skos:exactMatch Orphanet:1055 semapv:UnspecifiedMatching +obo:GARD_2308 Fetal minoxidil syndrome skos:exactMatch Orphanet:1918 semapv:UnspecifiedMatching +obo:GARD_231 CACH syndrome skos:exactMatch Orphanet:135 semapv:UnspecifiedMatching +obo:GARD_231 CACH syndrome skos:narrowMatch OMIM:603896 semapv:UnspecifiedMatching +obo:GARD_231 CACH syndrome skos:narrowMatch OMIM:615889 semapv:UnspecifiedMatching +obo:GARD_2313 Thalidomide embryopathy skos:exactMatch Orphanet:3312 semapv:UnspecifiedMatching +obo:GARD_2317 FG syndrome type 1 skos:exactMatch Orphanet:93932 semapv:UnspecifiedMatching +obo:GARD_2317 FG syndrome type 1 skos:narrowMatch OMIM:305450 semapv:UnspecifiedMatching +obo:GARD_232 Medullary sponge kidney skos:exactMatch Orphanet:1309 semapv:UnspecifiedMatching +obo:GARD_2320 Congenital fibrinogen deficiency skos:exactMatch Orphanet:335 semapv:UnspecifiedMatching +obo:GARD_2320 Congenital fibrinogen deficiency skos:narrowMatch OMIM:202400 semapv:UnspecifiedMatching +obo:GARD_2320 Congenital fibrinogen deficiency skos:narrowMatch OMIM:616004 semapv:UnspecifiedMatching +obo:GARD_2321 Fibrochondrogenesis skos:exactMatch Orphanet:2021 semapv:UnspecifiedMatching +obo:GARD_2321 Fibrochondrogenesis skos:narrowMatch OMIM:228520 semapv:UnspecifiedMatching +obo:GARD_2321 Fibrochondrogenesis skos:narrowMatch OMIM:614524 semapv:UnspecifiedMatching +obo:GARD_2322 Birt-Hogg-Dubé syndrome skos:exactMatch Orphanet:122 semapv:UnspecifiedMatching +obo:GARD_2322 Birt-Hogg-Dubé syndrome skos:narrowMatch OMIM:135150 semapv:UnspecifiedMatching +obo:GARD_2324 Gingival fibromatosis-hypertrichosis syndrome skos:exactMatch Orphanet:2026 semapv:UnspecifiedMatching +obo:GARD_2324 Gingival fibromatosis-hypertrichosis syndrome skos:narrowMatch OMIM:135400 semapv:UnspecifiedMatching +obo:GARD_2327 Fibrosarcoma skos:exactMatch Orphanet:2030 semapv:UnspecifiedMatching +obo:GARD_2331 Fibular aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:1118 semapv:UnspecifiedMatching +obo:GARD_2331 Fibular aplasia-ectrodactyly syndrome skos:narrowMatch OMIM:113310 semapv:UnspecifiedMatching +obo:GARD_2336 Absence of fingerprints-congenital milia syndrome skos:exactMatch Orphanet:1658 semapv:UnspecifiedMatching +obo:GARD_2336 Absence of fingerprints-congenital milia syndrome skos:narrowMatch OMIM:129200 semapv:UnspecifiedMatching +obo:GARD_2339 AGel amyloidosis skos:exactMatch Orphanet:85448 semapv:UnspecifiedMatching +obo:GARD_2339 AGel amyloidosis skos:narrowMatch OMIM:105120 semapv:UnspecifiedMatching +obo:GARD_234 D-glyceric aciduria skos:exactMatch Orphanet:941 semapv:UnspecifiedMatching +obo:GARD_234 D-glyceric aciduria skos:narrowMatch OMIM:220120 semapv:UnspecifiedMatching +obo:GARD_2342 Spastic paraplegia-nephritis-deafness syndrome skos:exactMatch Orphanet:2820 semapv:UnspecifiedMatching +obo:GARD_2342 Spastic paraplegia-nephritis-deafness syndrome skos:narrowMatch OMIM:182690 semapv:UnspecifiedMatching +obo:GARD_2344 Paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch Orphanet:2824 semapv:UnspecifiedMatching +obo:GARD_2344 Paraplegia-intellectual disability-hyperkeratosis syndrome skos:narrowMatch OMIM:309560 semapv:UnspecifiedMatching +obo:GARD_2346 FLOTCH syndrome skos:exactMatch Orphanet:2045 semapv:UnspecifiedMatching +obo:GARD_2347 Flynn-Aird syndrome skos:exactMatch Orphanet:2047 semapv:UnspecifiedMatching +obo:GARD_2347 Flynn-Aird syndrome skos:narrowMatch OMIM:136300 semapv:UnspecifiedMatching +obo:GARD_2351 Foix-Chavany-Marie syndrome skos:exactMatch Orphanet:2048 semapv:UnspecifiedMatching +obo:GARD_2356 Follicular lymphoma skos:exactMatch Orphanet:545 semapv:UnspecifiedMatching +obo:GARD_2356 Follicular lymphoma skos:narrowMatch OMIM:613024 semapv:UnspecifiedMatching +obo:GARD_236 Hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch Orphanet:2186 semapv:UnspecifiedMatching +obo:GARD_2362 Cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching +obo:GARD_2362 Cardiospondylocarpofacial syndrome skos:narrowMatch OMIM:157800 semapv:UnspecifiedMatching +obo:GARD_2365 Fowler urethral sphincter dysfunction syndrome skos:exactMatch Orphanet:2795 semapv:UnspecifiedMatching +obo:GARD_237 Dahlberg-Borer-Newcomer syndrome skos:exactMatch Orphanet:1563 semapv:UnspecifiedMatching +obo:GARD_237 Dahlberg-Borer-Newcomer syndrome skos:narrowMatch OMIM:247410 semapv:UnspecifiedMatching +obo:GARD_2375 Frasier syndrome skos:exactMatch Orphanet:347 semapv:UnspecifiedMatching +obo:GARD_2375 Frasier syndrome skos:narrowMatch OMIM:136680 semapv:UnspecifiedMatching +obo:GARD_2378 FRAXE intellectual disability skos:exactMatch Orphanet:100973 semapv:UnspecifiedMatching +obo:GARD_2378 FRAXE intellectual disability skos:narrowMatch OMIM:309548 semapv:UnspecifiedMatching +obo:GARD_238 Odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch Orphanet:2724 semapv:UnspecifiedMatching +obo:GARD_238 Odontomatosis-aortae esophagus stenosis syndrome skos:narrowMatch OMIM:164330 semapv:UnspecifiedMatching +obo:GARD_2380 Osteochondrosis of the metatarsal bone skos:exactMatch Orphanet:564003 semapv:UnspecifiedMatching +obo:GARD_2381 Odontotrichomelic syndrome skos:exactMatch Orphanet:2723 semapv:UnspecifiedMatching +obo:GARD_2381 Odontotrichomelic syndrome skos:narrowMatch OMIM:273400 semapv:UnspecifiedMatching +obo:GARD_2384 14q22q23 microdeletion syndrome skos:exactMatch Orphanet:264200 semapv:UnspecifiedMatching +obo:GARD_2384 14q22q23 microdeletion syndrome skos:narrowMatch OMIM:609640 semapv:UnspecifiedMatching +obo:GARD_239 Say-Barber-Miller syndrome skos:exactMatch Orphanet:3132 semapv:UnspecifiedMatching +obo:GARD_239 Say-Barber-Miller syndrome skos:narrowMatch OMIM:251240 semapv:UnspecifiedMatching +obo:GARD_2390 Frontofacionasal dysplasia skos:exactMatch Orphanet:1791 semapv:UnspecifiedMatching +obo:GARD_2390 Frontofacionasal dysplasia skos:narrowMatch OMIM:229400 semapv:UnspecifiedMatching +obo:GARD_2392 Frontonasal dysplasia skos:exactMatch Orphanet:250 semapv:UnspecifiedMatching +obo:GARD_2397 Diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch Orphanet:2141 semapv:UnspecifiedMatching +obo:GARD_2397 Diaphragmatic defect-limb deficiency-skull defect syndrome skos:narrowMatch OMIM:601163 semapv:UnspecifiedMatching +obo:GARD_2400 Fructose-1,6-bisphosphatase deficiency skos:exactMatch Orphanet:348 semapv:UnspecifiedMatching +obo:GARD_2400 Fructose-1,6-bisphosphatase deficiency skos:narrowMatch OMIM:229700 semapv:UnspecifiedMatching +obo:GARD_2408 Upper limb mesomelic dysplasia skos:exactMatch Orphanet:2497 semapv:UnspecifiedMatching +obo:GARD_2408 Upper limb mesomelic dysplasia skos:narrowMatch OMIM:191440 semapv:UnspecifiedMatching +obo:GARD_2409 Fryns-Smeets-Thiry syndrome skos:exactMatch Orphanet:2058 semapv:UnspecifiedMatching +obo:GARD_241 Scalp defects-postaxial polydactyly syndrome skos:exactMatch Orphanet:1003 semapv:UnspecifiedMatching +obo:GARD_241 Scalp defects-postaxial polydactyly syndrome skos:narrowMatch OMIM:181250 semapv:UnspecifiedMatching +obo:GARD_2410 Fuhrmann syndrome skos:exactMatch Orphanet:2854 semapv:UnspecifiedMatching +obo:GARD_2410 Fuhrmann syndrome skos:narrowMatch OMIM:228930 semapv:UnspecifiedMatching +obo:GARD_2417 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch Orphanet:2579 semapv:UnspecifiedMatching +obo:GARD_2417 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:narrowMatch OMIM:158500 semapv:UnspecifiedMatching +obo:GARD_2418 Furuncular myiasis skos:exactMatch Orphanet:591 semapv:UnspecifiedMatching +obo:GARD_2419 Fused mandibular incisors skos:exactMatch Orphanet:2287 semapv:UnspecifiedMatching +obo:GARD_2419 Fused mandibular incisors skos:narrowMatch OMIM:147251 semapv:UnspecifiedMatching +obo:GARD_2422 Galactokinase deficiency skos:exactMatch Orphanet:79237 semapv:UnspecifiedMatching +obo:GARD_2422 Galactokinase deficiency skos:narrowMatch OMIM:230200 semapv:UnspecifiedMatching +obo:GARD_2424 Galactosemia skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +obo:GARD_2424 Galactosemia skos:narrowMatch OMIM:230200 semapv:UnspecifiedMatching +obo:GARD_2424 Galactosemia skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +obo:GARD_2424 Galactosemia skos:narrowMatch OMIM:230400 semapv:UnspecifiedMatching +obo:GARD_2427 Growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch Orphanet:3035 semapv:UnspecifiedMatching +obo:GARD_2427 Growth delay-hydrocephaly-lung hypoplasia syndrome skos:narrowMatch OMIM:236640 semapv:UnspecifiedMatching +obo:GARD_2428 Cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching +obo:GARD_2428 Cystathioninuria skos:narrowMatch OMIM:219500 semapv:UnspecifiedMatching +obo:GARD_2429 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:exactMatch Orphanet:353 semapv:UnspecifiedMatching +obo:GARD_2429 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 skos:narrowMatch OMIM:253700 semapv:UnspecifiedMatching +obo:GARD_243 Trigonocephaly-short stature-developmental delay syndrome skos:exactMatch Orphanet:3369 semapv:UnspecifiedMatching +obo:GARD_243 Trigonocephaly-short stature-developmental delay syndrome skos:narrowMatch OMIM:314320 semapv:UnspecifiedMatching +obo:GARD_2430 Ganglioglioma skos:exactMatch Orphanet:251949 semapv:UnspecifiedMatching +obo:GARD_2431 GM1 gangliosidosis type 3 skos:exactMatch Orphanet:79257 semapv:UnspecifiedMatching +obo:GARD_2431 GM1 gangliosidosis type 3 skos:narrowMatch OMIM:230650 semapv:UnspecifiedMatching +obo:GARD_2432 X-linked Alport syndrome-diffuse leiomyomatosis skos:exactMatch Orphanet:1018 semapv:UnspecifiedMatching +obo:GARD_2432 X-linked Alport syndrome-diffuse leiomyomatosis skos:narrowMatch OMIM:150700 semapv:UnspecifiedMatching +obo:GARD_2432 X-linked Alport syndrome-diffuse leiomyomatosis skos:narrowMatch OMIM:308940 semapv:UnspecifiedMatching +obo:GARD_2436 Ménétrier disease skos:exactMatch Orphanet:2494 semapv:UnspecifiedMatching +obo:GARD_2436 Ménétrier disease skos:narrowMatch OMIM:137280 semapv:UnspecifiedMatching +obo:GARD_2437 Gastroenteropancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:100092 semapv:UnspecifiedMatching +obo:GARD_2438 Gastrocutaneous syndrome skos:exactMatch Orphanet:2069 semapv:UnspecifiedMatching +obo:GARD_2438 Gastrocutaneous syndrome skos:narrowMatch OMIM:137270 semapv:UnspecifiedMatching +obo:GARD_2441 Gaucher disease type 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching +obo:GARD_2441 Gaucher disease type 1 skos:narrowMatch OMIM:230800 semapv:UnspecifiedMatching +obo:GARD_2442 Gaucher disease type 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching +obo:GARD_2442 Gaucher disease type 2 skos:narrowMatch OMIM:230900 semapv:UnspecifiedMatching +obo:GARD_2443 Gaucher disease type 3 skos:exactMatch Orphanet:77261 semapv:UnspecifiedMatching +obo:GARD_2443 Gaucher disease type 3 skos:narrowMatch OMIM:231000 semapv:UnspecifiedMatching +obo:GARD_2449 Geleophysic dysplasia skos:exactMatch Orphanet:2623 semapv:UnspecifiedMatching +obo:GARD_2449 Geleophysic dysplasia skos:narrowMatch OMIM:231050 semapv:UnspecifiedMatching +obo:GARD_2449 Geleophysic dysplasia skos:narrowMatch OMIM:614185 semapv:UnspecifiedMatching +obo:GARD_2449 Geleophysic dysplasia skos:narrowMatch OMIM:617809 semapv:UnspecifiedMatching +obo:GARD_2451 Gemignani syndrome skos:exactMatch Orphanet:2074 semapv:UnspecifiedMatching +obo:GARD_2452 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome skos:exactMatch Orphanet:2084 semapv:UnspecifiedMatching +obo:GARD_2452 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome skos:narrowMatch OMIM:608328 semapv:UnspecifiedMatching +obo:GARD_2454 Holoprosencephaly-craniosynostosis syndrome skos:exactMatch Orphanet:2163 semapv:UnspecifiedMatching +obo:GARD_2454 Holoprosencephaly-craniosynostosis syndrome skos:narrowMatch OMIM:601370 semapv:UnspecifiedMatching +obo:GARD_2456 Mycobacterium tuberculosis, susceptibility to skos:broadMatch Orphanet:3389 semapv:UnspecifiedMatching +obo:GARD_2456 Mycobacterium tuberculosis, susceptibility to skos:exactMatch OMIM:607948 semapv:UnspecifiedMatching +obo:GARD_246 Schisis association skos:exactMatch Orphanet:63862 semapv:UnspecifiedMatching +obo:GARD_2460 Genitopalatocardiac syndrome skos:exactMatch Orphanet:2075 semapv:UnspecifiedMatching +obo:GARD_2460 Genitopalatocardiac syndrome skos:narrowMatch OMIM:231060 semapv:UnspecifiedMatching +obo:GARD_2462 German syndrome skos:exactMatch Orphanet:2077 semapv:UnspecifiedMatching +obo:GARD_2462 German syndrome skos:narrowMatch OMIM:231080 semapv:UnspecifiedMatching +obo:GARD_2469 Large congenital melanocytic nevus skos:exactMatch Orphanet:626 semapv:UnspecifiedMatching +obo:GARD_2469 Large congenital melanocytic nevus skos:narrowMatch OMIM:137550 semapv:UnspecifiedMatching +obo:GARD_247 SCARF syndrome skos:exactMatch Orphanet:3134 semapv:UnspecifiedMatching +obo:GARD_247 SCARF syndrome skos:narrowMatch OMIM:312830 semapv:UnspecifiedMatching +obo:GARD_2470 Bernard-Soulier syndrome skos:exactMatch Orphanet:274 semapv:UnspecifiedMatching +obo:GARD_2470 Bernard-Soulier syndrome skos:narrowMatch OMIM:153670 semapv:UnspecifiedMatching +obo:GARD_2470 Bernard-Soulier syndrome skos:narrowMatch OMIM:231200 semapv:UnspecifiedMatching +obo:GARD_2474 Fibromatosis, gingival, 2 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +obo:GARD_2474 Fibromatosis, gingival, 2 skos:exactMatch OMIM:605544 semapv:UnspecifiedMatching +obo:GARD_2475 Fibromatosis, gingival, 4 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +obo:GARD_2475 Fibromatosis, gingival, 4 skos:exactMatch OMIM:611010 semapv:UnspecifiedMatching +obo:GARD_2478 Glanzmann thrombasthenia skos:exactMatch Orphanet:849 semapv:UnspecifiedMatching +obo:GARD_2478 Glanzmann thrombasthenia skos:narrowMatch OMIM:273800 semapv:UnspecifiedMatching +obo:GARD_2478 Glanzmann thrombasthenia skos:narrowMatch OMIM:619267 semapv:UnspecifiedMatching +obo:GARD_248 Cataract-deafness-hypogonadism syndrome skos:exactMatch Orphanet:1383 semapv:UnspecifiedMatching +obo:GARD_2483 Glaucoma-sleep apnea syndrome skos:exactMatch Orphanet:2085 semapv:UnspecifiedMatching +obo:GARD_2483 Glaucoma-sleep apnea syndrome skos:narrowMatch OMIM:137763 semapv:UnspecifiedMatching +obo:GARD_2485 Congenital glaucoma skos:exactMatch Orphanet:98976 semapv:UnspecifiedMatching +obo:GARD_2485 Congenital glaucoma skos:narrowMatch OMIM:231300 semapv:UnspecifiedMatching +obo:GARD_2485 Congenital glaucoma skos:narrowMatch OMIM:600975 semapv:UnspecifiedMatching +obo:GARD_2485 Congenital glaucoma skos:narrowMatch OMIM:613085 semapv:UnspecifiedMatching +obo:GARD_2485 Congenital glaucoma skos:narrowMatch OMIM:613086 semapv:UnspecifiedMatching +obo:GARD_2485 Congenital glaucoma skos:narrowMatch OMIM:617272 semapv:UnspecifiedMatching +obo:GARD_2486 Pediatric-onset glaucoma of genetic origin skos:exactMatch Orphanet:359 semapv:UnspecifiedMatching +obo:GARD_249 Craniodiaphyseal dysplasia, autosomal dominant skos:broadMatch Orphanet:1513 semapv:UnspecifiedMatching +obo:GARD_249 Craniodiaphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:122860 semapv:UnspecifiedMatching +obo:GARD_2490 Glaucoma 3, primary infantile, b skos:broadMatch Orphanet:98976 semapv:UnspecifiedMatching +obo:GARD_2490 Glaucoma 3, primary infantile, b skos:exactMatch OMIM:600975 semapv:UnspecifiedMatching +obo:GARD_2491 Glioblastoma skos:exactMatch Orphanet:360 semapv:UnspecifiedMatching +obo:GARD_2491 Glioblastoma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +obo:GARD_2491 Glioblastoma skos:narrowMatch OMIM:613029 semapv:UnspecifiedMatching +obo:GARD_2492 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:broadMatch Orphanet:69735 semapv:UnspecifiedMatching +obo:GARD_2492 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch OMIM:137940 semapv:UnspecifiedMatching +obo:GARD_2496 Glucagonoma skos:exactMatch Orphanet:97280 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:exactMatch Orphanet:361 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:202200 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:202355 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:607398 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:609197 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:614736 semapv:UnspecifiedMatching +obo:GARD_2498 Familial glucocorticoid deficiency skos:narrowMatch OMIM:617825 semapv:UnspecifiedMatching +obo:GARD_2499 Generalized glucocorticoid resistance syndrome skos:exactMatch Orphanet:786 semapv:UnspecifiedMatching +obo:GARD_2499 Generalized glucocorticoid resistance syndrome skos:narrowMatch OMIM:615962 semapv:UnspecifiedMatching +obo:GARD_250 Schwartz-Jampel syndrome skos:exactMatch Orphanet:800 semapv:UnspecifiedMatching +obo:GARD_250 Schwartz-Jampel syndrome skos:narrowMatch OMIM:255800 semapv:UnspecifiedMatching +obo:GARD_2513 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 semapv:UnspecifiedMatching +obo:GARD_2513 Glycogen storage disease due to hepatic glycogen synthase deficiency skos:narrowMatch OMIM:240600 semapv:UnspecifiedMatching +obo:GARD_2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib skos:exactMatch Orphanet:79259 semapv:UnspecifiedMatching +obo:GARD_2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib skos:narrowMatch OMIM:232220 semapv:UnspecifiedMatching +obo:GARD_2515 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib skos:narrowMatch OMIM:232240 semapv:UnspecifiedMatching +obo:GARD_2520 Glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch Orphanet:367 semapv:UnspecifiedMatching +obo:GARD_2520 Glycogen storage disease due to glycogen branching enzyme deficiency skos:narrowMatch OMIM:232500 semapv:UnspecifiedMatching +obo:GARD_2520 Glycogen storage disease due to glycogen branching enzyme deficiency skos:narrowMatch OMIM:263570 semapv:UnspecifiedMatching +obo:GARD_2521 Sandhoff disease skos:exactMatch Orphanet:796 semapv:UnspecifiedMatching +obo:GARD_2521 Sandhoff disease skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +obo:GARD_2523 GMS syndrome skos:exactMatch Orphanet:2090 semapv:UnspecifiedMatching +obo:GARD_2523 GMS syndrome skos:narrowMatch OMIM:138770 semapv:UnspecifiedMatching +obo:GARD_2541 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch Orphanet:1770 semapv:UnspecifiedMatching +obo:GARD_2541 XY type gonadal dysgenesis-associated anomalies syndrome skos:narrowMatch OMIM:233430 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:narrowMatch OMIM:233400 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:narrowMatch OMIM:614129 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:narrowMatch OMIM:614926 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:narrowMatch OMIM:615300 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:narrowMatch OMIM:616138 semapv:UnspecifiedMatching +obo:GARD_2542 Perrault syndrome skos:narrowMatch OMIM:617565 semapv:UnspecifiedMatching +obo:GARD_2546 Gonococcal conjunctivitis skos:exactMatch Orphanet:1482 semapv:UnspecifiedMatching +obo:GARD_2549 Goodman syndrome skos:exactMatch Orphanet:65798 semapv:UnspecifiedMatching +obo:GARD_2549 Goodman syndrome skos:narrowMatch OMIM:201020 semapv:UnspecifiedMatching +obo:GARD_2551 Anti-glomerular basement membrane disease skos:exactMatch Orphanet:375 semapv:UnspecifiedMatching +obo:GARD_2551 Anti-glomerular basement membrane disease skos:narrowMatch OMIM:233450 semapv:UnspecifiedMatching +obo:GARD_2553 Gordon syndrome skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching +obo:GARD_2553 Gordon syndrome skos:narrowMatch OMIM:114300 semapv:UnspecifiedMatching +obo:GARD_2557 Cystic hamartoma of lung and kidney skos:exactMatch Orphanet:2111 semapv:UnspecifiedMatching +obo:GARD_2559 Grant syndrome skos:exactMatch Orphanet:2097 semapv:UnspecifiedMatching +obo:GARD_2559 Grant syndrome skos:narrowMatch OMIM:138930 semapv:UnspecifiedMatching +obo:GARD_2562 Gray platelet syndrome skos:exactMatch Orphanet:721 semapv:UnspecifiedMatching +obo:GARD_2562 Gray platelet syndrome skos:narrowMatch OMIM:139090 semapv:UnspecifiedMatching +obo:GARD_2562 Gray platelet syndrome skos:narrowMatch OMIM:187900 semapv:UnspecifiedMatching +obo:GARD_2566 Griscelli syndrome type 1 skos:exactMatch Orphanet:79476 semapv:UnspecifiedMatching +obo:GARD_2566 Griscelli syndrome type 1 skos:narrowMatch OMIM:214450 semapv:UnspecifiedMatching +obo:GARD_2568 Deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch Orphanet:3217 semapv:UnspecifiedMatching +obo:GARD_2568 Deafness-small bowel diverticulosis-neuropathy syndrome skos:narrowMatch OMIM:221400 semapv:UnspecifiedMatching +obo:GARD_257 Intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch Orphanet:3041 semapv:UnspecifiedMatching +obo:GARD_257 Intellectual disability-balding-patella luxation-acromicria syndrome skos:narrowMatch OMIM:300977 semapv:UnspecifiedMatching +obo:GARD_2572 Myhre syndrome skos:exactMatch Orphanet:2588 semapv:UnspecifiedMatching +obo:GARD_2572 Myhre syndrome skos:narrowMatch OMIM:139210 semapv:UnspecifiedMatching +obo:GARD_2576 Grubben-de Cock-Borghgraef syndrome skos:exactMatch Orphanet:2101 semapv:UnspecifiedMatching +obo:GARD_2576 Grubben-de Cock-Borghgraef syndrome skos:narrowMatch OMIM:233810 semapv:UnspecifiedMatching +obo:GARD_2578 Guanidinoacetate methyltransferase deficiency skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching +obo:GARD_2578 Guanidinoacetate methyltransferase deficiency skos:narrowMatch OMIM:612736 semapv:UnspecifiedMatching +obo:GARD_2579 Osteopetrosis, autosomal recessive 1 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +obo:GARD_2579 Osteopetrosis, autosomal recessive 1 skos:exactMatch OMIM:259700 semapv:UnspecifiedMatching +obo:GARD_258 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch Orphanet:2252 semapv:UnspecifiedMatching +obo:GARD_258 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:narrowMatch OMIM:179250 semapv:UnspecifiedMatching +obo:GARD_2580 X-linked corneal dermoid skos:exactMatch Orphanet:1661 semapv:UnspecifiedMatching +obo:GARD_2580 X-linked corneal dermoid skos:narrowMatch OMIM:304730 semapv:UnspecifiedMatching +obo:GARD_2586 Hall-Riggs syndrome skos:exactMatch Orphanet:2107 semapv:UnspecifiedMatching +obo:GARD_2586 Hall-Riggs syndrome skos:narrowMatch OMIM:234250 semapv:UnspecifiedMatching +obo:GARD_2589 Digital extensor muscle aplasia-polyneuropathy skos:exactMatch Orphanet:2926 semapv:UnspecifiedMatching +obo:GARD_2589 Digital extensor muscle aplasia-polyneuropathy skos:narrowMatch OMIM:207740 semapv:UnspecifiedMatching +obo:GARD_259 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:exactMatch Orphanet:3145 semapv:UnspecifiedMatching +obo:GARD_259 Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome skos:narrowMatch OMIM:221995 semapv:UnspecifiedMatching +obo:GARD_2593 Emery-Nelson syndrome skos:exactMatch Orphanet:1927 semapv:UnspecifiedMatching +obo:GARD_2593 Emery-Nelson syndrome skos:narrowMatch OMIM:139750 semapv:UnspecifiedMatching +obo:GARD_2594 Hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching +obo:GARD_2594 Hand-foot-genital syndrome skos:narrowMatch OMIM:140000 semapv:UnspecifiedMatching +obo:GARD_2597 Extensor tendons of finger anomalies skos:exactMatch Orphanet:3294 semapv:UnspecifiedMatching +obo:GARD_2597 Extensor tendons of finger anomalies skos:narrowMatch OMIM:187390 semapv:UnspecifiedMatching +obo:GARD_2598 Parana hard skin syndrome skos:exactMatch Orphanet:2812 semapv:UnspecifiedMatching +obo:GARD_2598 Parana hard skin syndrome skos:narrowMatch OMIM:260530 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:236670 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:253280 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:253800 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:613150 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:613153 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:613154 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:614643 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:614830 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615041 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615181 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615249 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:615287 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:616538 semapv:UnspecifiedMatching +obo:GARD_2599 Walker-Warburg syndrome skos:narrowMatch OMIM:618135 semapv:UnspecifiedMatching +obo:GARD_26 Cat-eye syndrome skos:exactMatch Orphanet:195 semapv:UnspecifiedMatching +obo:GARD_26 Cat-eye syndrome skos:narrowMatch OMIM:115470 semapv:UnspecifiedMatching +obo:GARD_2600 Early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch Orphanet:1177 semapv:UnspecifiedMatching +obo:GARD_2600 Early-onset cerebellar ataxia with retained tendon reflexes skos:narrowMatch OMIM:212895 semapv:UnspecifiedMatching +obo:GARD_2601 Harrod syndrome skos:exactMatch Orphanet:2115 semapv:UnspecifiedMatching +obo:GARD_2601 Harrod syndrome skos:narrowMatch OMIM:601095 semapv:UnspecifiedMatching +obo:GARD_2605 Short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch Orphanet:2994 semapv:UnspecifiedMatching +obo:GARD_2605 Short stature-craniofacial anomalies-genital hypoplasia syndrome skos:narrowMatch OMIM:177980 semapv:UnspecifiedMatching +obo:GARD_2610 Progressive familial heart block, type ib skos:broadMatch Orphanet:871 semapv:UnspecifiedMatching +obo:GARD_2610 Progressive familial heart block, type ib skos:exactMatch OMIM:604559 semapv:UnspecifiedMatching +obo:GARD_2613 Heart defects-limb shortening syndrome skos:exactMatch Orphanet:1354 semapv:UnspecifiedMatching +obo:GARD_2613 Heart defects-limb shortening syndrome skos:narrowMatch OMIM:212135 semapv:UnspecifiedMatching +obo:GARD_2614 Heart-hand syndrome type 3 skos:exactMatch Orphanet:1342 semapv:UnspecifiedMatching +obo:GARD_2614 Heart-hand syndrome type 3 skos:narrowMatch OMIM:140450 semapv:UnspecifiedMatching +obo:GARD_262 NARP syndrome skos:exactMatch Orphanet:644 semapv:UnspecifiedMatching +obo:GARD_262 NARP syndrome skos:narrowMatch OMIM:551500 semapv:UnspecifiedMatching +obo:GARD_2620 HEC syndrome skos:exactMatch Orphanet:2119 semapv:UnspecifiedMatching +obo:GARD_2620 HEC syndrome skos:narrowMatch OMIM:600559 semapv:UnspecifiedMatching +obo:GARD_2621 Trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:3377 semapv:UnspecifiedMatching +obo:GARD_2621 Trismus-pseudocamptodactyly syndrome skos:narrowMatch OMIM:158300 semapv:UnspecifiedMatching +obo:GARD_2622 FATCO syndrome skos:exactMatch Orphanet:2492 semapv:UnspecifiedMatching +obo:GARD_2627 Hemangiopericytoma, malignant skos:broadMatch Orphanet:2126 semapv:UnspecifiedMatching +obo:GARD_2627 Hemangiopericytoma, malignant skos:exactMatch OMIM:234820 semapv:UnspecifiedMatching +obo:GARD_2630 Isolated hemihyperplasia skos:exactMatch Orphanet:2128 semapv:UnspecifiedMatching +obo:GARD_2630 Isolated hemihyperplasia skos:narrowMatch OMIM:235000 semapv:UnspecifiedMatching +obo:GARD_2633 Bencze syndrome skos:exactMatch Orphanet:1241 semapv:UnspecifiedMatching +obo:GARD_2633 Bencze syndrome skos:narrowMatch OMIM:141350 semapv:UnspecifiedMatching +obo:GARD_2637 Hemimegalencephaly skos:exactMatch Orphanet:99802 semapv:UnspecifiedMatching +obo:GARD_2638 Migraine, familial hemiplegic, 1 skos:broadMatch Orphanet:569 semapv:UnspecifiedMatching +obo:GARD_2638 Migraine, familial hemiplegic, 1 skos:exactMatch OMIM:141500 semapv:UnspecifiedMatching +obo:GARD_264 Lowry-Wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching +obo:GARD_264 Lowry-Wood syndrome skos:narrowMatch OMIM:226960 semapv:UnspecifiedMatching +obo:GARD_2640 Hemoglobin C disease skos:exactMatch Orphanet:2132 semapv:UnspecifiedMatching +obo:GARD_2641 Hemoglobin E disease skos:exactMatch Orphanet:2133 semapv:UnspecifiedMatching +obo:GARD_2642 Lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch Orphanet:1046 semapv:UnspecifiedMatching +obo:GARD_2642 Lethal hemolytic anemia-genital anomalies syndrome skos:narrowMatch OMIM:600461 semapv:UnspecifiedMatching +obo:GARD_265 Trichodental syndrome skos:exactMatch Orphanet:3351 semapv:UnspecifiedMatching +obo:GARD_265 Trichodental syndrome skos:narrowMatch OMIM:601453 semapv:UnspecifiedMatching +obo:GARD_2650 Heparin-induced thrombocytopenia skos:exactMatch Orphanet:3325 semapv:UnspecifiedMatching +obo:GARD_2651 Hepatic cystic hamartoma skos:exactMatch Orphanet:386 semapv:UnspecifiedMatching +obo:GARD_2657 Hepatoblastoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching +obo:GARD_2657 Hepatoblastoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +obo:GARD_2658 Tyrosinemia type 1 skos:exactMatch Orphanet:882 semapv:UnspecifiedMatching +obo:GARD_2658 Tyrosinemia type 1 skos:narrowMatch OMIM:276700 semapv:UnspecifiedMatching +obo:GARD_2659 Hereditary methemoglobinemia skos:exactMatch Orphanet:621 semapv:UnspecifiedMatching +obo:GARD_2659 Hereditary methemoglobinemia skos:narrowMatch OMIM:250700 semapv:UnspecifiedMatching +obo:GARD_2659 Hereditary methemoglobinemia skos:narrowMatch OMIM:250790 semapv:UnspecifiedMatching +obo:GARD_2659 Hereditary methemoglobinemia skos:narrowMatch OMIM:250800 semapv:UnspecifiedMatching +obo:GARD_267 Keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching +obo:GARD_267 Keipert syndrome skos:narrowMatch OMIM:301026 semapv:UnspecifiedMatching +obo:GARD_2682 Hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch Orphanet:1808 semapv:UnspecifiedMatching +obo:GARD_2682 Hidrotic ectodermal dysplasia, Christianson-Fourie type skos:narrowMatch OMIM:601375 semapv:UnspecifiedMatching +obo:GARD_2684 Congenital high-molecular-weight kininogen deficiency skos:exactMatch Orphanet:483 semapv:UnspecifiedMatching +obo:GARD_2684 Congenital high-molecular-weight kininogen deficiency skos:narrowMatch OMIM:228960 semapv:UnspecifiedMatching +obo:GARD_269 IVIC syndrome skos:exactMatch Orphanet:2307 semapv:UnspecifiedMatching +obo:GARD_269 IVIC syndrome skos:narrowMatch OMIM:147750 semapv:UnspecifiedMatching +obo:GARD_2690 Hip dysplasia, Beukes type skos:exactMatch Orphanet:2114 semapv:UnspecifiedMatching +obo:GARD_2690 Hip dysplasia, Beukes type skos:narrowMatch OMIM:142669 semapv:UnspecifiedMatching +obo:GARD_2695 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch Orphanet:2151 semapv:UnspecifiedMatching +obo:GARD_27 Cat-scratch disease skos:exactMatch Orphanet:50839 semapv:UnspecifiedMatching +obo:GARD_270 Nicolaides-Baraitser syndrome skos:exactMatch Orphanet:3051 semapv:UnspecifiedMatching +obo:GARD_270 Nicolaides-Baraitser syndrome skos:narrowMatch OMIM:601358 semapv:UnspecifiedMatching +obo:GARD_2700 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch Orphanet:2150 semapv:UnspecifiedMatching +obo:GARD_2700 Hirschsprung disease-type D brachydactyly syndrome skos:narrowMatch OMIM:306980 semapv:UnspecifiedMatching +obo:GARD_2706 His bundle tachycardia skos:exactMatch Orphanet:3283 semapv:UnspecifiedMatching +obo:GARD_2708 Histidinuria-renal tubular defect syndrome skos:exactMatch Orphanet:2158 semapv:UnspecifiedMatching +obo:GARD_2708 Histidinuria-renal tubular defect syndrome skos:narrowMatch OMIM:235830 semapv:UnspecifiedMatching +obo:GARD_2712 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch Orphanet:35701 semapv:UnspecifiedMatching +obo:GARD_2712 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:narrowMatch OMIM:605911 semapv:UnspecifiedMatching +obo:GARD_2714 Hodgkin lymphoma skos:exactMatch Orphanet:98293 semapv:UnspecifiedMatching +obo:GARD_272 VACTERL with hydrocephalus skos:exactMatch Orphanet:3412 semapv:UnspecifiedMatching +obo:GARD_272 VACTERL with hydrocephalus skos:narrowMatch OMIM:276950 semapv:UnspecifiedMatching +obo:GARD_272 VACTERL with hydrocephalus skos:narrowMatch OMIM:314390 semapv:UnspecifiedMatching +obo:GARD_2721 Holocarboxylase synthetase deficiency skos:exactMatch Orphanet:79242 semapv:UnspecifiedMatching +obo:GARD_2721 Holocarboxylase synthetase deficiency skos:narrowMatch OMIM:253270 semapv:UnspecifiedMatching +obo:GARD_2722 Holoprosencephaly-caudal dysgenesis syndrome skos:exactMatch Orphanet:2165 semapv:UnspecifiedMatching +obo:GARD_2725 Hartsfield syndrome skos:exactMatch Orphanet:2117 semapv:UnspecifiedMatching +obo:GARD_2725 Hartsfield syndrome skos:narrowMatch OMIM:615465 semapv:UnspecifiedMatching +obo:GARD_2727 Holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch Orphanet:3186 semapv:UnspecifiedMatching +obo:GARD_2727 Holoprosencephaly-radial heart renal anomalies syndrome skos:narrowMatch OMIM:184705 semapv:UnspecifiedMatching +obo:GARD_2728 Holzgreve syndrome skos:exactMatch Orphanet:2167 semapv:UnspecifiedMatching +obo:GARD_2728 Holzgreve syndrome skos:narrowMatch OMIM:236110 semapv:UnspecifiedMatching +obo:GARD_273 Wrinkly skin syndrome skos:exactMatch Orphanet:2834 semapv:UnspecifiedMatching +obo:GARD_273 Wrinkly skin syndrome skos:narrowMatch OMIM:278250 semapv:UnspecifiedMatching +obo:GARD_2734 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch Orphanet:395 semapv:UnspecifiedMatching +obo:GARD_2734 Homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:narrowMatch OMIM:236250 semapv:UnspecifiedMatching +obo:GARD_274 X-linked immunoneurologic disorder skos:exactMatch Orphanet:2571 semapv:UnspecifiedMatching +obo:GARD_274 X-linked immunoneurologic disorder skos:narrowMatch OMIM:300076 semapv:UnspecifiedMatching +obo:GARD_2742 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch Orphanet:1352 semapv:UnspecifiedMatching +obo:GARD_2742 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:narrowMatch OMIM:600123 semapv:UnspecifiedMatching +obo:GARD_2748 Humero-radial synostosis skos:exactMatch Orphanet:3265 semapv:UnspecifiedMatching +obo:GARD_2748 Humero-radial synostosis skos:narrowMatch OMIM:143050 semapv:UnspecifiedMatching +obo:GARD_2748 Humero-radial synostosis skos:narrowMatch OMIM:236400 semapv:UnspecifiedMatching +obo:GARD_2749 Humero-radio-ulnar synostosis skos:exactMatch Orphanet:3266 semapv:UnspecifiedMatching +obo:GARD_2750 Humerus trochlea aplasia skos:exactMatch Orphanet:3383 semapv:UnspecifiedMatching +obo:GARD_2750 Humerus trochlea aplasia skos:narrowMatch OMIM:191000 semapv:UnspecifiedMatching +obo:GARD_2754 Hunter-McAlpine syndrome skos:exactMatch Orphanet:97340 semapv:UnspecifiedMatching +obo:GARD_2754 Hunter-McAlpine syndrome skos:narrowMatch OMIM:601379 semapv:UnspecifiedMatching +obo:GARD_2756 Trigonocephaly-broad thumbs syndrome skos:exactMatch Orphanet:3365 semapv:UnspecifiedMatching +obo:GARD_276 Hypogonadotropic hypogonadism 12 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_276 Hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch OMIM:614841 semapv:UnspecifiedMatching +obo:GARD_2764 Cystic echinococcosis skos:exactMatch Orphanet:400 semapv:UnspecifiedMatching +obo:GARD_2765 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch Orphanet:2898 semapv:UnspecifiedMatching +obo:GARD_2765 X-linked intellectual disability-plagiocephaly syndrome skos:narrowMatch OMIM:300064 semapv:UnspecifiedMatching +obo:GARD_277 Pilodental dysplasia-refractive errors syndrome skos:exactMatch Orphanet:2892 semapv:UnspecifiedMatching +obo:GARD_277 Pilodental dysplasia-refractive errors syndrome skos:narrowMatch OMIM:262020 semapv:UnspecifiedMatching +obo:GARD_2775 Hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch Orphanet:2183 semapv:UnspecifiedMatching +obo:GARD_2783 Hydrops fetalis skos:exactMatch Orphanet:1041 semapv:UnspecifiedMatching +obo:GARD_2783 Hydrops fetalis skos:narrowMatch OMIM:236750 semapv:UnspecifiedMatching +obo:GARD_2787 Hymenolepiasis skos:exactMatch Orphanet:401 semapv:UnspecifiedMatching +obo:GARD_2788 Hyperimmunoglobulinemia D with periodic fever skos:exactMatch Orphanet:343 semapv:UnspecifiedMatching +obo:GARD_2788 Hyperimmunoglobulinemia D with periodic fever skos:narrowMatch OMIM:260920 semapv:UnspecifiedMatching +obo:GARD_2789 Familial hyperaldosteronism type II skos:exactMatch Orphanet:404 semapv:UnspecifiedMatching +obo:GARD_2789 Familial hyperaldosteronism type II skos:narrowMatch OMIM:605635 semapv:UnspecifiedMatching +obo:GARD_2790 Familial hyperaldosteronism type I skos:exactMatch Orphanet:403 semapv:UnspecifiedMatching +obo:GARD_2790 Familial hyperaldosteronism type I skos:narrowMatch OMIM:103900 semapv:UnspecifiedMatching +obo:GARD_2791 Transient familial neonatal hyperbilirubinemia skos:exactMatch Orphanet:2312 semapv:UnspecifiedMatching +obo:GARD_2791 Transient familial neonatal hyperbilirubinemia skos:narrowMatch OMIM:237900 semapv:UnspecifiedMatching +obo:GARD_2793 Dubin-Johnson syndrome skos:exactMatch Orphanet:234 semapv:UnspecifiedMatching +obo:GARD_2793 Dubin-Johnson syndrome skos:narrowMatch OMIM:237500 semapv:UnspecifiedMatching +obo:GARD_2796 Familial hypocalciuric hypercalcemia type 1 skos:exactMatch Orphanet:93372 semapv:UnspecifiedMatching +obo:GARD_2796 Familial hypocalciuric hypercalcemia type 1 skos:narrowMatch OMIM:145980 semapv:UnspecifiedMatching +obo:GARD_28 Catel-Manzke syndrome skos:exactMatch Orphanet:1388 semapv:UnspecifiedMatching +obo:GARD_28 Catel-Manzke syndrome skos:narrowMatch OMIM:616145 semapv:UnspecifiedMatching +obo:GARD_280 Hidrotic ectodermal dysplasia, Halal type skos:exactMatch Orphanet:1809 semapv:UnspecifiedMatching +obo:GARD_2804 Hypereosinophilic syndrome skos:exactMatch Orphanet:168956 semapv:UnspecifiedMatching +obo:GARD_2806 Hereditary hyperferritinemia-cataract syndrome skos:exactMatch Orphanet:163 semapv:UnspecifiedMatching +obo:GARD_2806 Hereditary hyperferritinemia-cataract syndrome skos:narrowMatch OMIM:600886 semapv:UnspecifiedMatching +obo:GARD_2807 Isolated glycerol kinase deficiency skos:exactMatch Orphanet:408 semapv:UnspecifiedMatching +obo:GARD_2807 Isolated glycerol kinase deficiency skos:narrowMatch OMIM:307030 semapv:UnspecifiedMatching +obo:GARD_2816 Combined immunodeficiency due to DOCK8 deficiency skos:exactMatch Orphanet:217390 semapv:UnspecifiedMatching +obo:GARD_2816 Combined immunodeficiency due to DOCK8 deficiency skos:narrowMatch OMIM:243700 semapv:UnspecifiedMatching +obo:GARD_2818 Hyperinsulinism due to glucokinase deficiency skos:exactMatch Orphanet:79299 semapv:UnspecifiedMatching +obo:GARD_2818 Hyperinsulinism due to glucokinase deficiency skos:narrowMatch OMIM:602485 semapv:UnspecifiedMatching +obo:GARD_282 Lethal osteosclerotic bone dysplasia skos:exactMatch Orphanet:1832 semapv:UnspecifiedMatching +obo:GARD_282 Lethal osteosclerotic bone dysplasia skos:narrowMatch OMIM:259775 semapv:UnspecifiedMatching +obo:GARD_2824 Hyperkeratosis lenticularis perstans skos:exactMatch Orphanet:409 semapv:UnspecifiedMatching +obo:GARD_2824 Hyperkeratosis lenticularis perstans skos:narrowMatch OMIM:144150 semapv:UnspecifiedMatching +obo:GARD_2826 Epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2199 semapv:UnspecifiedMatching +obo:GARD_2826 Epidermolytic palmoplantar keratoderma skos:narrowMatch OMIM:144200 semapv:UnspecifiedMatching +obo:GARD_2828 Hyperlysinemia skos:exactMatch Orphanet:2203 semapv:UnspecifiedMatching +obo:GARD_2828 Hyperlysinemia skos:narrowMatch OMIM:238700 semapv:UnspecifiedMatching +obo:GARD_2828 Hyperlysinemia skos:narrowMatch OMIM:238710 semapv:UnspecifiedMatching +obo:GARD_2830 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch Orphanet:415 semapv:UnspecifiedMatching +obo:GARD_2830 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:narrowMatch OMIM:238970 semapv:UnspecifiedMatching +obo:GARD_2831 Juvenile Paget disease skos:exactMatch Orphanet:2801 semapv:UnspecifiedMatching +obo:GARD_2831 Juvenile Paget disease skos:narrowMatch OMIM:239000 semapv:UnspecifiedMatching +obo:GARD_2833 Hyperostosis corticalis generalisata skos:exactMatch Orphanet:3416 semapv:UnspecifiedMatching +obo:GARD_2833 Hyperostosis corticalis generalisata skos:narrowMatch OMIM:239100 semapv:UnspecifiedMatching +obo:GARD_2835 Primary hyperoxaluria type 1 skos:exactMatch Orphanet:93598 semapv:UnspecifiedMatching +obo:GARD_2835 Primary hyperoxaluria type 1 skos:narrowMatch OMIM:259900 semapv:UnspecifiedMatching +obo:GARD_2836 Primary hyperoxaluria type 2 skos:exactMatch Orphanet:93599 semapv:UnspecifiedMatching +obo:GARD_2836 Primary hyperoxaluria type 2 skos:narrowMatch OMIM:260000 semapv:UnspecifiedMatching +obo:GARD_2837 Familial primary hyperparathyroidism skos:exactMatch Orphanet:2207 semapv:UnspecifiedMatching +obo:GARD_2838 Neonatal severe primary hyperparathyroidism skos:exactMatch Orphanet:417 semapv:UnspecifiedMatching +obo:GARD_2838 Neonatal severe primary hyperparathyroidism skos:narrowMatch OMIM:239200 semapv:UnspecifiedMatching +obo:GARD_2838 Neonatal severe primary hyperparathyroidism skos:narrowMatch OMIM:618188 semapv:UnspecifiedMatching +obo:GARD_284 Lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching +obo:GARD_284 Lymphedema-atrial septal defects-facial changes syndrome skos:narrowMatch OMIM:601927 semapv:UnspecifiedMatching +obo:GARD_2843 Pterin-4 alpha-carbinolamine dehydratase deficiency skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching +obo:GARD_2843 Pterin-4 alpha-carbinolamine dehydratase deficiency skos:narrowMatch OMIM:264070 semapv:UnspecifiedMatching +obo:GARD_2844 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 semapv:UnspecifiedMatching +obo:GARD_2844 GTP cyclohydrolase I deficiency skos:narrowMatch OMIM:233910 semapv:UnspecifiedMatching +obo:GARD_2847 Hyperprolinemia type 1 skos:exactMatch Orphanet:419 semapv:UnspecifiedMatching +obo:GARD_2847 Hyperprolinemia type 1 skos:narrowMatch OMIM:239500 semapv:UnspecifiedMatching +obo:GARD_2856 Maternal hyperthermia-induced birth defects skos:exactMatch Orphanet:2216 semapv:UnspecifiedMatching +obo:GARD_2858 Familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch Orphanet:424 semapv:UnspecifiedMatching +obo:GARD_2858 Familial hyperthyroidism due to mutations in TSH receptor skos:narrowMatch OMIM:609152 semapv:UnspecifiedMatching +obo:GARD_2863 X-linked congenital generalized hypertrichosis skos:exactMatch Orphanet:79495 semapv:UnspecifiedMatching +obo:GARD_2863 X-linked congenital generalized hypertrichosis skos:narrowMatch OMIM:307150 semapv:UnspecifiedMatching +obo:GARD_2864 Acquired hypertrichosis lanuginosa skos:exactMatch Orphanet:2221 semapv:UnspecifiedMatching +obo:GARD_2865 Hypertrichosis lanuginosa congenita skos:exactMatch Orphanet:2222 semapv:UnspecifiedMatching +obo:GARD_2865 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:145700 semapv:UnspecifiedMatching +obo:GARD_2865 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:145701 semapv:UnspecifiedMatching +obo:GARD_2865 Hypertrichosis lanuginosa congenita skos:narrowMatch OMIM:307150 semapv:UnspecifiedMatching +obo:GARD_287 Hypertelorism-hypospadias-polysyndactyly syndrome skos:exactMatch Orphanet:2211 semapv:UnspecifiedMatching +obo:GARD_287 Hypertelorism-hypospadias-polysyndactyly syndrome skos:narrowMatch OMIM:239710 semapv:UnspecifiedMatching +obo:GARD_2871 Hypertryptophanemia skos:exactMatch Orphanet:2224 semapv:UnspecifiedMatching +obo:GARD_2871 Hypertryptophanemia skos:narrowMatch OMIM:600627 semapv:UnspecifiedMatching +obo:GARD_2872 Apolipoprotein A-I deficiency skos:exactMatch Orphanet:425 semapv:UnspecifiedMatching +obo:GARD_2872 Apolipoprotein A-I deficiency skos:narrowMatch OMIM:604091 semapv:UnspecifiedMatching +obo:GARD_2872 Apolipoprotein A-I deficiency skos:narrowMatch OMIM:618463 semapv:UnspecifiedMatching +obo:GARD_2876 Hypobetalipoproteinemia, familial, 1 skos:broadMatch Orphanet:14 semapv:UnspecifiedMatching +obo:GARD_2876 Hypobetalipoproteinemia, familial, 1 skos:exactMatch OMIM:615558 semapv:UnspecifiedMatching +obo:GARD_2877 Autosomal dominant hypocalcemia skos:exactMatch Orphanet:428 semapv:UnspecifiedMatching +obo:GARD_2877 Autosomal dominant hypocalcemia skos:narrowMatch OMIM:601198 semapv:UnspecifiedMatching +obo:GARD_2877 Autosomal dominant hypocalcemia skos:narrowMatch OMIM:615361 semapv:UnspecifiedMatching +obo:GARD_2878 Familial hypocalciuric hypercalcemia type 3 skos:exactMatch Orphanet:101050 semapv:UnspecifiedMatching +obo:GARD_2878 Familial hypocalciuric hypercalcemia type 3 skos:narrowMatch OMIM:600740 semapv:UnspecifiedMatching +obo:GARD_288 Hallermann-Streiff syndrome skos:exactMatch Orphanet:2108 semapv:UnspecifiedMatching +obo:GARD_288 Hallermann-Streiff syndrome skos:narrowMatch OMIM:234100 semapv:UnspecifiedMatching +obo:GARD_2882 Achondrogenesis skos:exactMatch Orphanet:932 semapv:UnspecifiedMatching +obo:GARD_2882 Achondrogenesis skos:narrowMatch OMIM:200600 semapv:UnspecifiedMatching +obo:GARD_2882 Achondrogenesis skos:narrowMatch OMIM:200610 semapv:UnspecifiedMatching +obo:GARD_2882 Achondrogenesis skos:narrowMatch OMIM:600972 semapv:UnspecifiedMatching +obo:GARD_2887 Familial hypofibrinogenemia skos:exactMatch Orphanet:101041 semapv:UnspecifiedMatching +obo:GARD_2887 Familial hypofibrinogenemia skos:narrowMatch OMIM:202400 semapv:UnspecifiedMatching +obo:GARD_2897 Hypogonadotropic hypogonadism 7 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_2897 Hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch OMIM:146110 semapv:UnspecifiedMatching +obo:GARD_29 CHARGE syndrome skos:exactMatch Orphanet:138 semapv:UnspecifiedMatching +obo:GARD_29 CHARGE syndrome skos:narrowMatch OMIM:214800 semapv:UnspecifiedMatching +obo:GARD_290 Hallermann-Streiff-like syndrome skos:exactMatch Orphanet:2109 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:115200 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:302045 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:600884 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601154 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601493 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:601494 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604145 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604288 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:604765 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:605582 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:606685 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:607482 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:608569 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:609909 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:609915 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611407 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611615 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611878 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611879 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:611880 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:612158 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:612877 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613122 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613172 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613252 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613286 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613424 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613426 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613642 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613694 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613697 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:613881 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:614672 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615184 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615235 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615248 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615373 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615396 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:615916 semapv:UnspecifiedMatching +obo:GARD_2905 Familial isolated dilated cardiomyopathy skos:narrowMatch OMIM:618189 semapv:UnspecifiedMatching +obo:GARD_2906 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement skos:exactMatch Orphanet:31043 semapv:UnspecifiedMatching +obo:GARD_2906 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement skos:narrowMatch OMIM:248250 semapv:UnspecifiedMatching +obo:GARD_2907 Hypomandibular faciocranial dysostosis skos:exactMatch Orphanet:1790 semapv:UnspecifiedMatching +obo:GARD_2907 Hypomandibular faciocranial dysostosis skos:narrowMatch OMIM:241310 semapv:UnspecifiedMatching +obo:GARD_2908 Müllerian duct anomalies-limb anomalies syndrome skos:exactMatch Orphanet:2491 semapv:UnspecifiedMatching +obo:GARD_2908 Müllerian duct anomalies-limb anomalies syndrome skos:narrowMatch OMIM:146160 semapv:UnspecifiedMatching +obo:GARD_2910 Familial isolated hypoparathyroidism skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +obo:GARD_2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:146200 semapv:UnspecifiedMatching +obo:GARD_2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:307700 semapv:UnspecifiedMatching +obo:GARD_2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:601198 semapv:UnspecifiedMatching +obo:GARD_2910 Familial isolated hypoparathyroidism skos:narrowMatch OMIM:615361 semapv:UnspecifiedMatching +obo:GARD_2911 Hypoparathyroidism-sensorineural deafness-renal disease syndrome skos:exactMatch Orphanet:2237 semapv:UnspecifiedMatching +obo:GARD_2911 Hypoparathyroidism-sensorineural deafness-renal disease syndrome skos:narrowMatch OMIM:146255 semapv:UnspecifiedMatching +obo:GARD_2914 Hypoparathyroidism, x-linked skos:broadMatch Orphanet:2239 semapv:UnspecifiedMatching +obo:GARD_2914 Hypoparathyroidism, x-linked skos:exactMatch OMIM:307700 semapv:UnspecifiedMatching +obo:GARD_292 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch Orphanet:2269 semapv:UnspecifiedMatching +obo:GARD_292 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:narrowMatch OMIM:242510 semapv:UnspecifiedMatching +obo:GARD_2922 Hypoplastic right heart syndrome skos:exactMatch Orphanet:98723 semapv:UnspecifiedMatching +obo:GARD_2926 Congenital factor II deficiency skos:exactMatch Orphanet:325 semapv:UnspecifiedMatching +obo:GARD_2926 Congenital factor II deficiency skos:narrowMatch OMIM:613679 semapv:UnspecifiedMatching +obo:GARD_2928 Hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch Orphanet:2261 semapv:UnspecifiedMatching +obo:GARD_2928 Hypospadias-intellectual disability, Goldblatt type syndrome skos:narrowMatch OMIM:241760 semapv:UnspecifiedMatching +obo:GARD_2930 Schilbach-Rott syndrome skos:exactMatch Orphanet:2353 semapv:UnspecifiedMatching +obo:GARD_2930 Schilbach-Rott syndrome skos:narrowMatch OMIM:164220 semapv:UnspecifiedMatching +obo:GARD_2943 Hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:206428 semapv:UnspecifiedMatching +obo:GARD_2945 ICF syndrome skos:exactMatch Orphanet:2268 semapv:UnspecifiedMatching +obo:GARD_2945 ICF syndrome skos:narrowMatch OMIM:242860 semapv:UnspecifiedMatching +obo:GARD_2945 ICF syndrome skos:narrowMatch OMIM:614069 semapv:UnspecifiedMatching +obo:GARD_2945 ICF syndrome skos:narrowMatch OMIM:616910 semapv:UnspecifiedMatching +obo:GARD_2945 ICF syndrome skos:narrowMatch OMIM:616911 semapv:UnspecifiedMatching +obo:GARD_2946 Keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:broadMatch Orphanet:477 semapv:UnspecifiedMatching +obo:GARD_2946 Keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch OMIM:242150 semapv:UnspecifiedMatching +obo:GARD_2952 Ichthyosis follicularis-alopecia-photophobia syndrome skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching +obo:GARD_2952 Ichthyosis follicularis-alopecia-photophobia syndrome skos:narrowMatch OMIM:308205 semapv:UnspecifiedMatching +obo:GARD_2952 Ichthyosis follicularis-alopecia-photophobia syndrome skos:narrowMatch OMIM:619016 semapv:UnspecifiedMatching +obo:GARD_2954 Ichthyosis hystrix of Curth-Macklin skos:exactMatch Orphanet:79503 semapv:UnspecifiedMatching +obo:GARD_2954 Ichthyosis hystrix of Curth-Macklin skos:narrowMatch OMIM:146590 semapv:UnspecifiedMatching +obo:GARD_296 Short tarsus-absence of lower eyelashes syndrome skos:exactMatch Orphanet:2832 semapv:UnspecifiedMatching +obo:GARD_296 Short tarsus-absence of lower eyelashes syndrome skos:narrowMatch OMIM:600269 semapv:UnspecifiedMatching +obo:GARD_2960 Ichthyosis-oral and digital anomalies syndrome skos:exactMatch Orphanet:2272 semapv:UnspecifiedMatching +obo:GARD_2960 Ichthyosis-oral and digital anomalies syndrome skos:narrowMatch OMIM:258840 semapv:UnspecifiedMatching +obo:GARD_2966 Superficial epidermolytic ichthyosis skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching +obo:GARD_2966 Superficial epidermolytic ichthyosis skos:narrowMatch OMIM:146800 semapv:UnspecifiedMatching +obo:GARD_2978 Anterior segment dysgenesis 3 skos:broadMatch Orphanet:91483 semapv:UnspecifiedMatching +obo:GARD_2978 Anterior segment dysgenesis 3 skos:broadMatch Orphanet:98978 semapv:UnspecifiedMatching +obo:GARD_2978 Anterior segment dysgenesis 3 skos:exactMatch OMIM:601631 semapv:UnspecifiedMatching +obo:GARD_298 Hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch Orphanet:2410 semapv:UnspecifiedMatching +obo:GARD_298 Hypergonadotropic hypogonadism-cataract syndrome skos:narrowMatch OMIM:240950 semapv:UnspecifiedMatching +obo:GARD_2981 Ciliary dyskinesia with defective radial spokes skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_2981 Ciliary dyskinesia with defective radial spokes skos:exactMatch OMIM:242670 semapv:UnspecifiedMatching +obo:GARD_2982 Ciliary dyskinesia with excessively long cilia skos:broadMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_2982 Ciliary dyskinesia with excessively long cilia skos:exactMatch OMIM:242680 semapv:UnspecifiedMatching +obo:GARD_2984 Immune deficiency, familial variable skos:broadMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_2984 Immune deficiency, familial variable skos:exactMatch OMIM:146830 semapv:UnspecifiedMatching +obo:GARD_2988 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch Orphanet:935 semapv:UnspecifiedMatching +obo:GARD_2988 Short-limb skeletal dysplasia with severe combined immunodeficiency skos:narrowMatch OMIM:200900 semapv:UnspecifiedMatching +obo:GARD_2989 Imperforate oropharynx-costovertebral anomalies syndrome skos:exactMatch Orphanet:2759 semapv:UnspecifiedMatching +obo:GARD_299 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch Orphanet:231556 semapv:UnspecifiedMatching +obo:GARD_299 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:narrowMatch OMIM:226440 semapv:UnspecifiedMatching +obo:GARD_2995 Early-onset progressive encephalopathy with migrant continuous myoclonus skos:exactMatch Orphanet:1943 semapv:UnspecifiedMatching +obo:GARD_2998 Infantile myofibromatosis skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching +obo:GARD_2998 Infantile myofibromatosis skos:narrowMatch OMIM:228550 semapv:UnspecifiedMatching +obo:GARD_2998 Infantile myofibromatosis skos:narrowMatch OMIM:615293 semapv:UnspecifiedMatching +obo:GARD_3 Ablepharon macrostomia syndrome skos:exactMatch Orphanet:920 semapv:UnspecifiedMatching +obo:GARD_3 Ablepharon macrostomia syndrome skos:narrowMatch OMIM:200110 semapv:UnspecifiedMatching +obo:GARD_3002 Infantile spasms-broad thumbs syndrome skos:exactMatch Orphanet:3173 semapv:UnspecifiedMatching +obo:GARD_3006 Hereditary sensory and autonomic neuropathy type 4 skos:exactMatch Orphanet:642 semapv:UnspecifiedMatching +obo:GARD_3006 Hereditary sensory and autonomic neuropathy type 4 skos:narrowMatch OMIM:256800 semapv:UnspecifiedMatching +obo:GARD_3007 Mosaic variegated aneuploidy syndrome skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching +obo:GARD_3007 Mosaic variegated aneuploidy syndrome skos:narrowMatch OMIM:257300 semapv:UnspecifiedMatching +obo:GARD_3007 Mosaic variegated aneuploidy syndrome skos:narrowMatch OMIM:614114 semapv:UnspecifiedMatching +obo:GARD_3007 Mosaic variegated aneuploidy syndrome skos:narrowMatch OMIM:617598 semapv:UnspecifiedMatching +obo:GARD_3008 Insulin-resistance syndrome type A skos:exactMatch Orphanet:2297 semapv:UnspecifiedMatching +obo:GARD_3008 Insulin-resistance syndrome type A skos:narrowMatch OMIM:610549 semapv:UnspecifiedMatching +obo:GARD_3009 Insulin-resistance syndrome type B skos:exactMatch Orphanet:2298 semapv:UnspecifiedMatching +obo:GARD_3010 Insulinoma skos:exactMatch Orphanet:97279 semapv:UnspecifiedMatching +obo:GARD_3012 Internal carotid absence skos:exactMatch Orphanet:981 semapv:UnspecifiedMatching +obo:GARD_3013 Multiple intestinal atresia skos:exactMatch Orphanet:2300 semapv:UnspecifiedMatching +obo:GARD_3013 Multiple intestinal atresia skos:narrowMatch OMIM:243150 semapv:UnspecifiedMatching +obo:GARD_3017 Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked skos:broadMatch Orphanet:2301 semapv:UnspecifiedMatching +obo:GARD_3017 Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked skos:exactMatch OMIM:300048 semapv:UnspecifiedMatching +obo:GARD_302 Kostmann syndrome skos:exactMatch Orphanet:99749 semapv:UnspecifiedMatching +obo:GARD_302 Kostmann syndrome skos:narrowMatch OMIM:610738 semapv:UnspecifiedMatching +obo:GARD_3020 Cerebral arteriovenous malformation skos:exactMatch Orphanet:46724 semapv:UnspecifiedMatching +obo:GARD_3020 Cerebral arteriovenous malformation skos:narrowMatch OMIM:108010 semapv:UnspecifiedMatching +obo:GARD_3024 Congenital intrinsic factor deficiency skos:exactMatch Orphanet:332 semapv:UnspecifiedMatching +obo:GARD_3024 Congenital intrinsic factor deficiency skos:narrowMatch OMIM:243320 semapv:UnspecifiedMatching +obo:GARD_3024 Congenital intrinsic factor deficiency skos:narrowMatch OMIM:261000 semapv:UnspecifiedMatching +obo:GARD_3026 Anterior segment dysgenesis 4 skos:broadMatch Orphanet:91483 semapv:UnspecifiedMatching +obo:GARD_3026 Anterior segment dysgenesis 4 skos:exactMatch OMIM:137600 semapv:UnspecifiedMatching +obo:GARD_3030 Coxopodopatellar syndrome skos:exactMatch Orphanet:1509 semapv:UnspecifiedMatching +obo:GARD_3030 Coxopodopatellar syndrome skos:narrowMatch OMIM:147891 semapv:UnspecifiedMatching +obo:GARD_3033 Isosporiasis skos:exactMatch Orphanet:472 semapv:UnspecifiedMatching +obo:GARD_304 Blau syndrome skos:exactMatch Orphanet:90340 semapv:UnspecifiedMatching +obo:GARD_304 Blau syndrome skos:narrowMatch OMIM:186580 semapv:UnspecifiedMatching +obo:GARD_3045 CLN2 disease skos:exactMatch Orphanet:228349 semapv:UnspecifiedMatching +obo:GARD_3045 CLN2 disease skos:narrowMatch OMIM:204500 semapv:UnspecifiedMatching +obo:GARD_3047 Spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch Orphanet:93314 semapv:UnspecifiedMatching +obo:GARD_3047 Spondylometaphyseal dysplasia, Kozlowski type skos:narrowMatch OMIM:184252 semapv:UnspecifiedMatching +obo:GARD_3048 Jervell and Lange-Nielsen syndrome skos:exactMatch Orphanet:90647 semapv:UnspecifiedMatching +obo:GARD_3048 Jervell and Lange-Nielsen syndrome skos:narrowMatch OMIM:220400 semapv:UnspecifiedMatching +obo:GARD_3048 Jervell and Lange-Nielsen syndrome skos:narrowMatch OMIM:612347 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:exactMatch Orphanet:474 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:208500 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:611263 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:613819 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:614376 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:615630 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:615633 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:616300 semapv:UnspecifiedMatching +obo:GARD_3049 Jeune syndrome skos:narrowMatch OMIM:617088 semapv:UnspecifiedMatching +obo:GARD_305 Conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch Orphanet:3236 semapv:UnspecifiedMatching +obo:GARD_305 Conductive deafness-ptosis-skeletal anomalies syndrome skos:narrowMatch OMIM:221320 semapv:UnspecifiedMatching +obo:GARD_3051 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch Orphanet:1112 semapv:UnspecifiedMatching +obo:GARD_3051 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:narrowMatch OMIM:207620 semapv:UnspecifiedMatching +obo:GARD_3053 Arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch Orphanet:1485 semapv:UnspecifiedMatching +obo:GARD_3053 Arthrogryposis-hyperkeratosis syndrome, lethal form skos:narrowMatch OMIM:208158 semapv:UnspecifiedMatching +obo:GARD_3054 Familial articular hypermobility syndrome skos:exactMatch Orphanet:2295 semapv:UnspecifiedMatching +obo:GARD_3054 Familial articular hypermobility syndrome skos:narrowMatch OMIM:147900 semapv:UnspecifiedMatching +obo:GARD_3056 Gingival fibromatosis-progressive deafness syndrome skos:exactMatch Orphanet:2027 semapv:UnspecifiedMatching +obo:GARD_3056 Gingival fibromatosis-progressive deafness syndrome skos:narrowMatch OMIM:135550 semapv:UnspecifiedMatching +obo:GARD_306 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:exactMatch Orphanet:2848 semapv:UnspecifiedMatching +obo:GARD_306 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:narrowMatch OMIM:208250 semapv:UnspecifiedMatching +obo:GARD_3060 Juberg-Hayward syndrome skos:exactMatch Orphanet:2319 semapv:UnspecifiedMatching +obo:GARD_3060 Juberg-Hayward syndrome skos:narrowMatch OMIM:216100 semapv:UnspecifiedMatching +obo:GARD_3062 Jung syndrome skos:exactMatch Orphanet:2321 semapv:UnspecifiedMatching +obo:GARD_3062 Jung syndrome skos:narrowMatch OMIM:601427 semapv:UnspecifiedMatching +obo:GARD_3065 Juvenile polyposis syndrome skos:exactMatch Orphanet:2929 semapv:UnspecifiedMatching +obo:GARD_3065 Juvenile polyposis syndrome skos:narrowMatch OMIM:174900 semapv:UnspecifiedMatching +obo:GARD_3065 Juvenile polyposis syndrome skos:narrowMatch OMIM:175050 semapv:UnspecifiedMatching +obo:GARD_3065 Juvenile polyposis syndrome skos:narrowMatch OMIM:612242 semapv:UnspecifiedMatching +obo:GARD_3066 Hypotrichosis with juvenile macular degeneration skos:exactMatch Orphanet:1573 semapv:UnspecifiedMatching +obo:GARD_3066 Hypotrichosis with juvenile macular degeneration skos:narrowMatch OMIM:601553 semapv:UnspecifiedMatching +obo:GARD_3068 Juvenile temporal arteritis skos:exactMatch Orphanet:26137 semapv:UnspecifiedMatching +obo:GARD_307 Jacobsen syndrome skos:exactMatch Orphanet:2308 semapv:UnspecifiedMatching +obo:GARD_307 Jacobsen syndrome skos:narrowMatch OMIM:147791 semapv:UnspecifiedMatching +obo:GARD_3070 Hypogonadotropic hypogonadism 2 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_3070 Hypogonadotropic hypogonadism 2 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_3070 Hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch OMIM:147950 semapv:UnspecifiedMatching +obo:GARD_3071 Hypogonadotropic hypogonadism 1 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_3071 Hypogonadotropic hypogonadism 1 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_3071 Hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch OMIM:308700 semapv:UnspecifiedMatching +obo:GARD_3073 Hypogonadotropic hypogonadism 3 with or without anosmia skos:broadMatch Orphanet:432 semapv:UnspecifiedMatching +obo:GARD_3073 Hypogonadotropic hypogonadism 3 with or without anosmia skos:broadMatch Orphanet:478 semapv:UnspecifiedMatching +obo:GARD_3073 Hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch OMIM:244200 semapv:UnspecifiedMatching +obo:GARD_3074 Mesomelic dysplasia, Kantaputra type skos:exactMatch Orphanet:1836 semapv:UnspecifiedMatching +obo:GARD_3074 Mesomelic dysplasia, Kantaputra type skos:narrowMatch OMIM:156232 semapv:UnspecifiedMatching +obo:GARD_3074 Mesomelic dysplasia, Kantaputra type skos:narrowMatch OMIM:613681 semapv:UnspecifiedMatching +obo:GARD_3075 Acrocraniofacial dysostosis skos:exactMatch Orphanet:949 semapv:UnspecifiedMatching +obo:GARD_3075 Acrocraniofacial dysostosis skos:narrowMatch OMIM:201050 semapv:UnspecifiedMatching +obo:GARD_3077 Kaposiform hemangioendothelioma skos:exactMatch Orphanet:2122 semapv:UnspecifiedMatching +obo:GARD_3078 Kapur-Toriello syndrome skos:exactMatch Orphanet:2328 semapv:UnspecifiedMatching +obo:GARD_3078 Kapur-Toriello syndrome skos:narrowMatch OMIM:244300 semapv:UnspecifiedMatching +obo:GARD_3084 Oculocerebrofacial syndrome, Kaufman type skos:exactMatch Orphanet:2707 semapv:UnspecifiedMatching +obo:GARD_3084 Oculocerebrofacial syndrome, Kaufman type skos:narrowMatch OMIM:244450 semapv:UnspecifiedMatching +obo:GARD_3086 PAGOD syndrome skos:exactMatch Orphanet:991 semapv:UnspecifiedMatching +obo:GARD_3086 PAGOD syndrome skos:narrowMatch OMIM:202660 semapv:UnspecifiedMatching +obo:GARD_3089 Autosomal dominant keratitis skos:exactMatch Orphanet:2334 semapv:UnspecifiedMatching +obo:GARD_3089 Autosomal dominant keratitis skos:narrowMatch OMIM:148190 semapv:UnspecifiedMatching +obo:GARD_3090 Multiple self-healing squamous epithelioma skos:exactMatch Orphanet:65748 semapv:UnspecifiedMatching +obo:GARD_3090 Multiple self-healing squamous epithelioma skos:narrowMatch OMIM:132800 semapv:UnspecifiedMatching +obo:GARD_3092 Keratoderma hereditarium mutilans skos:exactMatch Orphanet:494 semapv:UnspecifiedMatching +obo:GARD_3092 Keratoderma hereditarium mutilans skos:narrowMatch OMIM:124500 semapv:UnspecifiedMatching +obo:GARD_3094 Palmoplantar keratoderma-deafness syndrome skos:exactMatch Orphanet:2202 semapv:UnspecifiedMatching +obo:GARD_3094 Palmoplantar keratoderma-deafness syndrome skos:narrowMatch OMIM:148350 semapv:UnspecifiedMatching +obo:GARD_3095 Palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch Orphanet:2201 semapv:UnspecifiedMatching +obo:GARD_3095 Palmoplantar keratoderma-spastic paralysis syndrome skos:narrowMatch OMIM:148360 semapv:UnspecifiedMatching +obo:GARD_3096 Transgrediens et progrediens palmoplantar keratoderma skos:exactMatch Orphanet:495 semapv:UnspecifiedMatching +obo:GARD_3096 Transgrediens et progrediens palmoplantar keratoderma skos:narrowMatch OMIM:133200 semapv:UnspecifiedMatching +obo:GARD_3098 Focal palmoplantar and gingival keratoderma skos:exactMatch Orphanet:2200 semapv:UnspecifiedMatching +obo:GARD_3098 Focal palmoplantar and gingival keratoderma skos:narrowMatch OMIM:148730 semapv:UnspecifiedMatching +obo:GARD_3099 Keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch Orphanet:2339 semapv:UnspecifiedMatching +obo:GARD_3099 Keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:narrowMatch OMIM:308830 semapv:UnspecifiedMatching +obo:GARD_31 Serpiginous choroiditis skos:exactMatch Orphanet:35686 semapv:UnspecifiedMatching +obo:GARD_310 CHIME syndrome skos:exactMatch Orphanet:3474 semapv:UnspecifiedMatching +obo:GARD_310 CHIME syndrome skos:narrowMatch OMIM:280000 semapv:UnspecifiedMatching +obo:GARD_3100 Papillon-Lefèvre syndrome skos:exactMatch Orphanet:678 semapv:UnspecifiedMatching +obo:GARD_3100 Papillon-Lefèvre syndrome skos:narrowMatch OMIM:245000 semapv:UnspecifiedMatching +obo:GARD_3102 Palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch Orphanet:2198 semapv:UnspecifiedMatching +obo:GARD_3102 Palmoplantar keratoderma-esophageal carcinoma syndrome skos:narrowMatch OMIM:148500 semapv:UnspecifiedMatching +obo:GARD_3103 Punctate palmoplantar keratoderma type 1 skos:exactMatch Orphanet:79501 semapv:UnspecifiedMatching +obo:GARD_3103 Punctate palmoplantar keratoderma type 1 skos:narrowMatch OMIM:148600 semapv:UnspecifiedMatching +obo:GARD_3103 Punctate palmoplantar keratoderma type 1 skos:narrowMatch OMIM:614936 semapv:UnspecifiedMatching +obo:GARD_3105 Tyrosinemia type 2 skos:exactMatch Orphanet:28378 semapv:UnspecifiedMatching +obo:GARD_3105 Tyrosinemia type 2 skos:narrowMatch OMIM:276600 semapv:UnspecifiedMatching +obo:GARD_3109 Kerion celsi skos:exactMatch Orphanet:499 semapv:UnspecifiedMatching +obo:GARD_3112 Anaplastic large cell lymphoma skos:exactMatch Orphanet:98841 semapv:UnspecifiedMatching +obo:GARD_3113 KID syndrome skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching +obo:GARD_3113 KID syndrome skos:narrowMatch OMIM:148210 semapv:UnspecifiedMatching +obo:GARD_3113 KID syndrome skos:narrowMatch OMIM:242150 semapv:UnspecifiedMatching +obo:GARD_3113 KID syndrome skos:narrowMatch OMIM:602540 semapv:UnspecifiedMatching +obo:GARD_3117 Kleine-Levin syndrome skos:exactMatch Orphanet:33543 semapv:UnspecifiedMatching +obo:GARD_3117 Kleine-Levin syndrome skos:narrowMatch OMIM:148840 semapv:UnspecifiedMatching +obo:GARD_3118 Hallux varus-preaxial polysyndactyly syndrome skos:exactMatch Orphanet:2110 semapv:UnspecifiedMatching +obo:GARD_3118 Hallux varus-preaxial polysyndactyly syndrome skos:narrowMatch OMIM:234280 semapv:UnspecifiedMatching +obo:GARD_312 Robinow syndrome skos:exactMatch Orphanet:97360 semapv:UnspecifiedMatching +obo:GARD_312 Robinow syndrome skos:narrowMatch OMIM:180700 semapv:UnspecifiedMatching +obo:GARD_312 Robinow syndrome skos:narrowMatch OMIM:268310 semapv:UnspecifiedMatching +obo:GARD_312 Robinow syndrome skos:narrowMatch OMIM:616331 semapv:UnspecifiedMatching +obo:GARD_312 Robinow syndrome skos:narrowMatch OMIM:616894 semapv:UnspecifiedMatching +obo:GARD_3122 Angioosteohypertrophic syndrome skos:exactMatch Orphanet:2346 semapv:UnspecifiedMatching +obo:GARD_3122 Angioosteohypertrophic syndrome skos:narrowMatch OMIM:149000 semapv:UnspecifiedMatching +obo:GARD_3122 Angioosteohypertrophic syndrome skos:narrowMatch OMIM:608354 semapv:UnspecifiedMatching +obo:GARD_3124 Lethal Kniest-like dysplasia skos:exactMatch Orphanet:2347 semapv:UnspecifiedMatching +obo:GARD_3124 Lethal Kniest-like dysplasia skos:narrowMatch OMIM:245190 semapv:UnspecifiedMatching +obo:GARD_3125 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:exactMatch Orphanet:2698 semapv:UnspecifiedMatching +obo:GARD_3125 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome skos:narrowMatch OMIM:149200 semapv:UnspecifiedMatching +obo:GARD_3126 Familial partial lipodystrophy, Dunnigan type skos:exactMatch Orphanet:2348 semapv:UnspecifiedMatching +obo:GARD_3126 Familial partial lipodystrophy, Dunnigan type skos:narrowMatch OMIM:151660 semapv:UnspecifiedMatching +obo:GARD_3128 Amelocerebrohypohidrotic syndrome skos:exactMatch Orphanet:1946 semapv:UnspecifiedMatching +obo:GARD_3128 Amelocerebrohypohidrotic syndrome skos:narrowMatch OMIM:226750 semapv:UnspecifiedMatching +obo:GARD_3129 Hereditary hyperekplexia skos:exactMatch Orphanet:3197 semapv:UnspecifiedMatching +obo:GARD_3129 Hereditary hyperekplexia skos:narrowMatch OMIM:149400 semapv:UnspecifiedMatching +obo:GARD_3129 Hereditary hyperekplexia skos:narrowMatch OMIM:614618 semapv:UnspecifiedMatching +obo:GARD_3129 Hereditary hyperekplexia skos:narrowMatch OMIM:614619 semapv:UnspecifiedMatching +obo:GARD_3129 Hereditary hyperekplexia skos:narrowMatch OMIM:618011 semapv:UnspecifiedMatching +obo:GARD_314 Saccharopinuria skos:exactMatch Orphanet:3124 semapv:UnspecifiedMatching +obo:GARD_314 Saccharopinuria skos:narrowMatch OMIM:268700 semapv:UnspecifiedMatching +obo:GARD_3141 Intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch Orphanet:3082 semapv:UnspecifiedMatching +obo:GARD_3150 Kuskokwim syndrome skos:exactMatch Orphanet:1149 semapv:UnspecifiedMatching +obo:GARD_3150 Kuskokwim syndrome skos:narrowMatch OMIM:259450 semapv:UnspecifiedMatching +obo:GARD_3159 Glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch Orphanet:2364 semapv:UnspecifiedMatching +obo:GARD_3159 Glycogen storage disease due to lactate dehydrogenase deficiency skos:narrowMatch OMIM:612933 semapv:UnspecifiedMatching +obo:GARD_3159 Glycogen storage disease due to lactate dehydrogenase deficiency skos:narrowMatch OMIM:614128 semapv:UnspecifiedMatching +obo:GARD_3160 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch Orphanet:284426 semapv:UnspecifiedMatching +obo:GARD_3160 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:narrowMatch OMIM:612933 semapv:UnspecifiedMatching +obo:GARD_3161 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch Orphanet:284435 semapv:UnspecifiedMatching +obo:GARD_3161 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:narrowMatch OMIM:614128 semapv:UnspecifiedMatching +obo:GARD_3163 Fatal infantile lactic acidosis with methylmalonic aciduria skos:exactMatch Orphanet:17 semapv:UnspecifiedMatching +obo:GARD_3163 Fatal infantile lactic acidosis with methylmalonic aciduria skos:narrowMatch OMIM:245400 semapv:UnspecifiedMatching +obo:GARD_3169 Lambert syndrome skos:exactMatch Orphanet:1296 semapv:UnspecifiedMatching +obo:GARD_3169 Lambert syndrome skos:narrowMatch OMIM:245550 semapv:UnspecifiedMatching +obo:GARD_3170 Ichthyosis, congenital, autosomal recessive 1 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_3170 Ichthyosis, congenital, autosomal recessive 1 skos:exactMatch OMIM:242300 semapv:UnspecifiedMatching +obo:GARD_3178 Diffuse large B-cell lymphoma skos:exactMatch Orphanet:544 semapv:UnspecifiedMatching +obo:GARD_3181 Lethal Larsen-like syndrome skos:exactMatch Orphanet:2371 semapv:UnspecifiedMatching +obo:GARD_3181 Lethal Larsen-like syndrome skos:narrowMatch OMIM:245650 semapv:UnspecifiedMatching +obo:GARD_3188 Laryngotracheoesophageal cleft skos:exactMatch Orphanet:2004 semapv:UnspecifiedMatching +obo:GARD_3188 Laryngotracheoesophageal cleft skos:narrowMatch OMIM:215800 semapv:UnspecifiedMatching +obo:GARD_319 Sacrococcygeal teratoma skos:exactMatch Orphanet:494421 semapv:UnspecifiedMatching +obo:GARD_3191 Laryngocele skos:exactMatch Orphanet:2372 semapv:UnspecifiedMatching +obo:GARD_3194 Larynx atresia skos:exactMatch Orphanet:1202 semapv:UnspecifiedMatching +obo:GARD_3194 Larynx atresia skos:narrowMatch OMIM:150300 semapv:UnspecifiedMatching +obo:GARD_3195 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch Orphanet:505 semapv:UnspecifiedMatching +obo:GARD_3196 Retinal cone dystrophy 1 skos:broadMatch Orphanet:1871 semapv:UnspecifiedMatching +obo:GARD_3196 Retinal cone dystrophy 1 skos:exactMatch OMIM:180020 semapv:UnspecifiedMatching +obo:GARD_320 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch Orphanet:2256 semapv:UnspecifiedMatching +obo:GARD_320 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:narrowMatch OMIM:228940 semapv:UnspecifiedMatching +obo:GARD_3203 Early-onset parkinsonism-intellectual disability syndrome skos:exactMatch Orphanet:2379 semapv:UnspecifiedMatching +obo:GARD_3203 Early-onset parkinsonism-intellectual disability syndrome skos:narrowMatch OMIM:311510 semapv:UnspecifiedMatching +obo:GARD_321 Nail-patella-like renal disease skos:exactMatch Orphanet:2613 semapv:UnspecifiedMatching +obo:GARD_321 Nail-patella-like renal disease skos:narrowMatch OMIM:256020 semapv:UnspecifiedMatching +obo:GARD_3212 Branchio-oculo-facial syndrome skos:exactMatch Orphanet:1297 semapv:UnspecifiedMatching +obo:GARD_3212 Branchio-oculo-facial syndrome skos:narrowMatch OMIM:113620 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:exactMatch Orphanet:3156 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:266900 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:606995 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:606996 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:609254 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:610189 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:613615 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:614845 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:616307 semapv:UnspecifiedMatching +obo:GARD_322 Senior-Loken syndrome skos:narrowMatch OMIM:616629 semapv:UnspecifiedMatching +obo:GARD_3223 Lenz-Majewski hyperostotic dwarfism skos:exactMatch Orphanet:2658 semapv:UnspecifiedMatching +obo:GARD_3223 Lenz-Majewski hyperostotic dwarfism skos:narrowMatch OMIM:151050 semapv:UnspecifiedMatching +obo:GARD_3224 Léri-Weill dyschondrosteosis skos:exactMatch Orphanet:240 semapv:UnspecifiedMatching +obo:GARD_3224 Léri-Weill dyschondrosteosis skos:narrowMatch OMIM:127300 semapv:UnspecifiedMatching +obo:GARD_3227 Lethal congenital contracture syndrome type 1 skos:exactMatch Orphanet:1486 semapv:UnspecifiedMatching +obo:GARD_3227 Lethal congenital contracture syndrome type 1 skos:narrowMatch OMIM:253310 semapv:UnspecifiedMatching +obo:GARD_3228 Maple syrup urine disease skos:exactMatch Orphanet:511 semapv:UnspecifiedMatching +obo:GARD_3228 Maple syrup urine disease skos:narrowMatch OMIM:248600 semapv:UnspecifiedMatching +obo:GARD_3228 Maple syrup urine disease skos:narrowMatch OMIM:615135 semapv:UnspecifiedMatching +obo:GARD_3230 Metachromatic leukodystrophy skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching +obo:GARD_3230 Metachromatic leukodystrophy skos:narrowMatch OMIM:156310 semapv:UnspecifiedMatching +obo:GARD_3230 Metachromatic leukodystrophy skos:narrowMatch OMIM:249900 semapv:UnspecifiedMatching +obo:GARD_3230 Metachromatic leukodystrophy skos:narrowMatch OMIM:250100 semapv:UnspecifiedMatching +obo:GARD_3231 Ravine syndrome skos:exactMatch Orphanet:99852 semapv:UnspecifiedMatching +obo:GARD_3232 Leukoencephalopathy-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:2386 semapv:UnspecifiedMatching +obo:GARD_3236 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch Orphanet:2743 semapv:UnspecifiedMatching +obo:GARD_3236 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:narrowMatch OMIM:165150 semapv:UnspecifiedMatching +obo:GARD_324 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch Orphanet:2230 semapv:UnspecifiedMatching +obo:GARD_3242 Autosomal dominant popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching +obo:GARD_3242 Autosomal dominant popliteal pterygium syndrome skos:narrowMatch OMIM:119500 semapv:UnspecifiedMatching +obo:GARD_3244 Leydig cell hypoplasia skos:exactMatch Orphanet:755 semapv:UnspecifiedMatching +obo:GARD_3244 Leydig cell hypoplasia skos:narrowMatch OMIM:238320 semapv:UnspecifiedMatching +obo:GARD_3247 Lichen planopilaris skos:exactMatch Orphanet:525 semapv:UnspecifiedMatching +obo:GARD_3248 Lichtenstein syndrome skos:exactMatch Orphanet:2390 semapv:UnspecifiedMatching +obo:GARD_3248 Lichtenstein syndrome skos:narrowMatch OMIM:246550 semapv:UnspecifiedMatching +obo:GARD_325 Twin to twin transfusion syndrome skos:exactMatch Orphanet:95431 semapv:UnspecifiedMatching +obo:GARD_3251 Limb body wall complex skos:exactMatch Orphanet:2369 semapv:UnspecifiedMatching +obo:GARD_3252 Distal limb deficiencies-micrognathia syndrome skos:exactMatch Orphanet:1307 semapv:UnspecifiedMatching +obo:GARD_3252 Distal limb deficiencies-micrognathia syndrome skos:narrowMatch OMIM:246560 semapv:UnspecifiedMatching +obo:GARD_3259 Linear verrucous nevus syndrome skos:exactMatch Orphanet:2611 semapv:UnspecifiedMatching +obo:GARD_3262 Neutral lipid storage disease skos:exactMatch Orphanet:165 semapv:UnspecifiedMatching +obo:GARD_3263 Pyruvate dehydrogenase E3 deficiency skos:exactMatch Orphanet:2394 semapv:UnspecifiedMatching +obo:GARD_3263 Pyruvate dehydrogenase E3 deficiency skos:narrowMatch OMIM:246900 semapv:UnspecifiedMatching +obo:GARD_3268 Lipoid proteinosis skos:exactMatch Orphanet:530 semapv:UnspecifiedMatching +obo:GARD_3268 Lipoid proteinosis skos:narrowMatch OMIM:247100 semapv:UnspecifiedMatching +obo:GARD_3277 Cobblestone lissencephaly skos:exactMatch Orphanet:51577 semapv:UnspecifiedMatching +obo:GARD_3283 Loiasis skos:exactMatch Orphanet:2404 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:192500 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:600919 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:603830 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:611818 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:611819 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:611820 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:612955 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:613485 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:613688 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:613693 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:613695 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:616247 semapv:UnspecifiedMatching +obo:GARD_3284 Romano-Ward syndrome skos:narrowMatch OMIM:616249 semapv:UnspecifiedMatching +obo:GARD_3285 Long qt syndrome 2 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_3285 Long qt syndrome 2 skos:exactMatch OMIM:613688 semapv:UnspecifiedMatching +obo:GARD_3286 Long qt syndrome 3 skos:broadMatch Orphanet:101016 semapv:UnspecifiedMatching +obo:GARD_3286 Long qt syndrome 3 skos:exactMatch OMIM:603830 semapv:UnspecifiedMatching +obo:GARD_3287 Loose anagen syndrome skos:exactMatch Orphanet:168 semapv:UnspecifiedMatching +obo:GARD_3287 Loose anagen syndrome skos:narrowMatch OMIM:600628 semapv:UnspecifiedMatching +obo:GARD_329 Wells syndrome skos:exactMatch Orphanet:901 semapv:UnspecifiedMatching +obo:GARD_3295 Oculocerebrorenal syndrome of Lowe skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching +obo:GARD_3295 Oculocerebrorenal syndrome of Lowe skos:narrowMatch OMIM:309000 semapv:UnspecifiedMatching +obo:GARD_330 Wiedemann-Rautenstrauch syndrome skos:exactMatch Orphanet:3455 semapv:UnspecifiedMatching +obo:GARD_330 Wiedemann-Rautenstrauch syndrome skos:narrowMatch OMIM:264090 semapv:UnspecifiedMatching +obo:GARD_3300 Lowry-MacLean syndrome skos:exactMatch Orphanet:2409 semapv:UnspecifiedMatching +obo:GARD_3300 Lowry-MacLean syndrome skos:narrowMatch OMIM:600252 semapv:UnspecifiedMatching +obo:GARD_3303 Cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch Orphanet:2575 semapv:UnspecifiedMatching +obo:GARD_3303 Cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:narrowMatch OMIM:219721 semapv:UnspecifiedMatching +obo:GARD_3307 Lujan-Fryns syndrome skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching +obo:GARD_3307 Lujan-Fryns syndrome skos:narrowMatch OMIM:300676 semapv:UnspecifiedMatching +obo:GARD_3307 Lujan-Fryns syndrome skos:narrowMatch OMIM:300799 semapv:UnspecifiedMatching +obo:GARD_3307 Lujan-Fryns syndrome skos:narrowMatch OMIM:309520 semapv:UnspecifiedMatching +obo:GARD_331 Yunis-Varon syndrome skos:exactMatch Orphanet:3472 semapv:UnspecifiedMatching +obo:GARD_331 Yunis-Varon syndrome skos:narrowMatch OMIM:216340 semapv:UnspecifiedMatching +obo:GARD_3314 Cerebellar ataxia-hypogonadism syndrome skos:exactMatch Orphanet:1173 semapv:UnspecifiedMatching +obo:GARD_3314 Cerebellar ataxia-hypogonadism syndrome skos:narrowMatch OMIM:212840 semapv:UnspecifiedMatching +obo:GARD_3314 Cerebellar ataxia-hypogonadism syndrome skos:narrowMatch OMIM:605672 semapv:UnspecifiedMatching +obo:GARD_3318 Hennekam syndrome skos:exactMatch Orphanet:2136 semapv:UnspecifiedMatching +obo:GARD_3318 Hennekam syndrome skos:narrowMatch OMIM:235510 semapv:UnspecifiedMatching +obo:GARD_3318 Hennekam syndrome skos:narrowMatch OMIM:616006 semapv:UnspecifiedMatching +obo:GARD_3318 Hennekam syndrome skos:narrowMatch OMIM:618154 semapv:UnspecifiedMatching +obo:GARD_3319 Lymphangioleiomyomatosis skos:exactMatch Orphanet:538 semapv:UnspecifiedMatching +obo:GARD_3319 Lymphangioleiomyomatosis skos:narrowMatch OMIM:606690 semapv:UnspecifiedMatching +obo:GARD_332 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome skos:exactMatch Orphanet:1555 semapv:UnspecifiedMatching +obo:GARD_332 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome skos:narrowMatch OMIM:123790 semapv:UnspecifiedMatching +obo:GARD_3321 Lymphatic filariasis skos:exactMatch Orphanet:2035 semapv:UnspecifiedMatching +obo:GARD_3324 Meige disease skos:exactMatch Orphanet:90186 semapv:UnspecifiedMatching +obo:GARD_3324 Meige disease skos:narrowMatch OMIM:153200 semapv:UnspecifiedMatching +obo:GARD_3328 Lymphatic malformation 1 skos:broadMatch Orphanet:79452 semapv:UnspecifiedMatching +obo:GARD_3328 Lymphatic malformation 1 skos:exactMatch OMIM:153100 semapv:UnspecifiedMatching +obo:GARD_333 Lymphedema-distichiasis syndrome skos:exactMatch Orphanet:33001 semapv:UnspecifiedMatching +obo:GARD_333 Lymphedema-distichiasis syndrome skos:narrowMatch OMIM:153400 semapv:UnspecifiedMatching +obo:GARD_3335 Lysinuric protein intolerance skos:exactMatch Orphanet:470 semapv:UnspecifiedMatching +obo:GARD_3335 Lysinuric protein intolerance skos:narrowMatch OMIM:222700 semapv:UnspecifiedMatching +obo:GARD_334 Dyschromatosis symmetrica hereditaria skos:exactMatch Orphanet:41 semapv:UnspecifiedMatching +obo:GARD_334 Dyschromatosis symmetrica hereditaria skos:narrowMatch OMIM:127400 semapv:UnspecifiedMatching +obo:GARD_3342 Macroglossia skos:exactMatch Orphanet:156207 semapv:UnspecifiedMatching +obo:GARD_3343 Beckwith-Wiedemann syndrome skos:exactMatch Orphanet:116 semapv:UnspecifiedMatching +obo:GARD_3343 Beckwith-Wiedemann syndrome skos:narrowMatch OMIM:130650 semapv:UnspecifiedMatching +obo:GARD_3347 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch Orphanet:2435 semapv:UnspecifiedMatching +obo:GARD_3348 Blepharophimosis-intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 semapv:UnspecifiedMatching +obo:GARD_3348 Blepharophimosis-intellectual disability syndrome, Ohdo type skos:narrowMatch OMIM:249620 semapv:UnspecifiedMatching +obo:GARD_3350 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:exactMatch Orphanet:34528 semapv:UnspecifiedMatching +obo:GARD_3350 Autosomal dominant primary hypomagnesemia with hypocalciuria skos:narrowMatch OMIM:154020 semapv:UnspecifiedMatching +obo:GARD_336 Autosomal recessive spastic paraplegia type 23 skos:exactMatch Orphanet:101003 semapv:UnspecifiedMatching +obo:GARD_336 Autosomal recessive spastic paraplegia type 23 skos:narrowMatch OMIM:270750 semapv:UnspecifiedMatching +obo:GARD_3361 Multiple pterygium-malignant hyperthermia syndrome skos:exactMatch Orphanet:2215 semapv:UnspecifiedMatching +obo:GARD_3361 Multiple pterygium-malignant hyperthermia syndrome skos:narrowMatch OMIM:217150 semapv:UnspecifiedMatching +obo:GARD_3363 Malignant hyperthermia, susceptibility to, 1 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_3363 Malignant hyperthermia, susceptibility to, 1 skos:exactMatch OMIM:145600 semapv:UnspecifiedMatching +obo:GARD_3364 Malignant hyperthermia, susceptibility to, 2 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_3364 Malignant hyperthermia, susceptibility to, 2 skos:exactMatch OMIM:154275 semapv:UnspecifiedMatching +obo:GARD_3365 Malignant hyperthermia, susceptibility to, 3 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_3365 Malignant hyperthermia, susceptibility to, 3 skos:exactMatch OMIM:154276 semapv:UnspecifiedMatching +obo:GARD_3366 Malignant hyperthermia, susceptibility to, 4 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_3366 Malignant hyperthermia, susceptibility to, 4 skos:exactMatch OMIM:600467 semapv:UnspecifiedMatching +obo:GARD_3367 Malignant hyperthermia, susceptibility to, 5 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_3367 Malignant hyperthermia, susceptibility to, 5 skos:exactMatch OMIM:601887 semapv:UnspecifiedMatching +obo:GARD_3368 Malignant hyperthermia, susceptibility to, 6 skos:broadMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_3368 Malignant hyperthermia, susceptibility to, 6 skos:exactMatch OMIM:601888 semapv:UnspecifiedMatching +obo:GARD_3371 Malonic aciduria skos:exactMatch Orphanet:943 semapv:UnspecifiedMatching +obo:GARD_3371 Malonic aciduria skos:narrowMatch OMIM:248360 semapv:UnspecifiedMatching +obo:GARD_3373 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2229 semapv:UnspecifiedMatching +obo:GARD_3373 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:narrowMatch OMIM:212112 semapv:UnspecifiedMatching +obo:GARD_3374 Mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch Orphanet:90153 semapv:UnspecifiedMatching +obo:GARD_3374 Mandibuloacral dysplasia with type A lipodystrophy skos:narrowMatch OMIM:248370 semapv:UnspecifiedMatching +obo:GARD_3378 Lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch Orphanet:1120 semapv:UnspecifiedMatching +obo:GARD_3378 Lung agenesis-heart defect-thumb anomalies syndrome skos:narrowMatch OMIM:601612 semapv:UnspecifiedMatching +obo:GARD_3382 Van den Ende-Gupta syndrome skos:exactMatch Orphanet:2460 semapv:UnspecifiedMatching +obo:GARD_3382 Van den Ende-Gupta syndrome skos:narrowMatch OMIM:600920 semapv:UnspecifiedMatching +obo:GARD_3388 Marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch Orphanet:2463 semapv:UnspecifiedMatching +obo:GARD_3388 Marfanoid habitus-autosomal recessive intellectual disability syndrome skos:narrowMatch OMIM:248770 semapv:UnspecifiedMatching +obo:GARD_3390 Marie Unna hereditary hypotrichosis skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching +obo:GARD_3390 Marie Unna hereditary hypotrichosis skos:narrowMatch OMIM:146550 semapv:UnspecifiedMatching +obo:GARD_3390 Marie Unna hereditary hypotrichosis skos:narrowMatch OMIM:612841 semapv:UnspecifiedMatching +obo:GARD_3395 Oculotrichoanal syndrome skos:exactMatch Orphanet:2717 semapv:UnspecifiedMatching +obo:GARD_3395 Oculotrichoanal syndrome skos:narrowMatch OMIM:248450 semapv:UnspecifiedMatching +obo:GARD_3396 Osteocraniostenosis skos:exactMatch Orphanet:2763 semapv:UnspecifiedMatching +obo:GARD_3396 Osteocraniostenosis skos:narrowMatch OMIM:602361 semapv:UnspecifiedMatching +obo:GARD_3399 Lethal recessive chondrodysplasia skos:exactMatch Orphanet:1423 semapv:UnspecifiedMatching +obo:GARD_3401 Marfanoid syndrome, De Silva type skos:exactMatch Orphanet:2464 semapv:UnspecifiedMatching +obo:GARD_3401 Marfanoid syndrome, De Silva type skos:narrowMatch OMIM:223330 semapv:UnspecifiedMatching +obo:GARD_3406 Cataract-intellectual disability-hypogonadism syndrome skos:exactMatch Orphanet:1387 semapv:UnspecifiedMatching +obo:GARD_3406 Cataract-intellectual disability-hypogonadism syndrome skos:narrowMatch OMIM:212720 semapv:UnspecifiedMatching +obo:GARD_3409 Hennekam-Beemer syndrome skos:exactMatch Orphanet:2135 semapv:UnspecifiedMatching +obo:GARD_3409 Hennekam-Beemer syndrome skos:narrowMatch OMIM:248910 semapv:UnspecifiedMatching +obo:GARD_341 Young syndrome skos:exactMatch Orphanet:3471 semapv:UnspecifiedMatching +obo:GARD_341 Young syndrome skos:narrowMatch OMIM:279000 semapv:UnspecifiedMatching +obo:GARD_3413 Maternal phenylketonuria skos:exactMatch Orphanet:2209 semapv:UnspecifiedMatching +obo:GARD_3413 Maternal phenylketonuria skos:narrowMatch OMIM:261600 semapv:UnspecifiedMatching +obo:GARD_3418 Maturity-onset diabetes of the young, type 1 skos:broadMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_3418 Maturity-onset diabetes of the young, type 1 skos:exactMatch OMIM:125850 semapv:UnspecifiedMatching +obo:GARD_3424 McDonough syndrome skos:exactMatch Orphanet:2471 semapv:UnspecifiedMatching +obo:GARD_3424 McDonough syndrome skos:narrowMatch OMIM:248950 semapv:UnspecifiedMatching +obo:GARD_3426 Familial scaphocephaly syndrome, McGillivray type skos:exactMatch Orphanet:168624 semapv:UnspecifiedMatching +obo:GARD_3426 Familial scaphocephaly syndrome, McGillivray type skos:narrowMatch OMIM:609579 semapv:UnspecifiedMatching +obo:GARD_3427 McKusick-Kaufman syndrome skos:exactMatch Orphanet:2473 semapv:UnspecifiedMatching +obo:GARD_3427 McKusick-Kaufman syndrome skos:narrowMatch OMIM:236700 semapv:UnspecifiedMatching +obo:GARD_343 Pontocerebellar hypoplasia type 4 skos:exactMatch Orphanet:166063 semapv:UnspecifiedMatching +obo:GARD_343 Pontocerebellar hypoplasia type 4 skos:narrowMatch OMIM:225753 semapv:UnspecifiedMatching +obo:GARD_3430 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch Orphanet:2001 semapv:UnspecifiedMatching +obo:GARD_3430 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:narrowMatch OMIM:601165 semapv:UnspecifiedMatching +obo:GARD_3432 Meacham syndrome skos:exactMatch Orphanet:3097 semapv:UnspecifiedMatching +obo:GARD_3432 Meacham syndrome skos:narrowMatch OMIM:608978 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:exactMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:249000 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:603194 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:607361 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:609345 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:611134 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:611561 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:612284 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:613885 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:614209 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:615397 semapv:UnspecifiedMatching +obo:GARD_3436 Meckel syndrome skos:narrowMatch OMIM:617562 semapv:UnspecifiedMatching +obo:GARD_3438 Dysraphism-cleft lip/palate-limb reduction defects syndrome skos:exactMatch Orphanet:2476 semapv:UnspecifiedMatching +obo:GARD_3439 Pai syndrome skos:exactMatch Orphanet:1993 semapv:UnspecifiedMatching +obo:GARD_3439 Pai syndrome skos:narrowMatch OMIM:155145 semapv:UnspecifiedMatching +obo:GARD_344 Holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch Orphanet:2166 semapv:UnspecifiedMatching +obo:GARD_344 Holoprosencephaly-postaxial polydactyly syndrome skos:narrowMatch OMIM:264480 semapv:UnspecifiedMatching +obo:GARD_3440 Median nodule of the upper lip skos:exactMatch Orphanet:2699 semapv:UnspecifiedMatching +obo:GARD_3440 Median nodule of the upper lip skos:narrowMatch OMIM:151630 semapv:UnspecifiedMatching +obo:GARD_3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch Orphanet:2241 semapv:UnspecifiedMatching +obo:GARD_3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:narrowMatch OMIM:249210 semapv:UnspecifiedMatching +obo:GARD_3442 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:narrowMatch OMIM:619351 semapv:UnspecifiedMatching +obo:GARD_3443 Familial visceral myopathy skos:exactMatch Orphanet:2604 semapv:UnspecifiedMatching +obo:GARD_3443 Familial visceral myopathy skos:narrowMatch OMIM:155310 semapv:UnspecifiedMatching +obo:GARD_3443 Familial visceral myopathy skos:narrowMatch OMIM:619350 semapv:UnspecifiedMatching +obo:GARD_3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch Orphanet:2478 semapv:UnspecifiedMatching +obo:GARD_3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:604004 semapv:UnspecifiedMatching +obo:GARD_3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:613925 semapv:UnspecifiedMatching +obo:GARD_3445 Megalencephalic leukoencephalopathy with subcortical cysts skos:narrowMatch OMIM:613926 semapv:UnspecifiedMatching +obo:GARD_3448 Megalocornea-intellectual disability syndrome skos:exactMatch Orphanet:2479 semapv:UnspecifiedMatching +obo:GARD_3448 Megalocornea-intellectual disability syndrome skos:narrowMatch OMIM:249310 semapv:UnspecifiedMatching +obo:GARD_3449 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch Orphanet:3038 semapv:UnspecifiedMatching +obo:GARD_3449 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:narrowMatch OMIM:182875 semapv:UnspecifiedMatching +obo:GARD_345 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch Orphanet:3055 semapv:UnspecifiedMatching +obo:GARD_3451 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:exactMatch Orphanet:2196 semapv:UnspecifiedMatching +obo:GARD_3451 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement skos:narrowMatch OMIM:248190 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:exactMatch Orphanet:3322 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:305000 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:613989 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:613990 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:615190 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:616353 semapv:UnspecifiedMatching +obo:GARD_346 Hoyeraal-Hreidarsson syndrome skos:narrowMatch OMIM:616553 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:exactMatch Orphanet:618 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:155600 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:155601 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:155700 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:608035 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:609048 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:613099 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:613972 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:615134 semapv:UnspecifiedMatching +obo:GARD_3460 Familial melanoma skos:narrowMatch OMIM:615848 semapv:UnspecifiedMatching +obo:GARD_3462 Melhem-Fahl syndrome skos:exactMatch Orphanet:2482 semapv:UnspecifiedMatching +obo:GARD_347 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch Orphanet:2255 semapv:UnspecifiedMatching +obo:GARD_347 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:narrowMatch OMIM:600001 semapv:UnspecifiedMatching +obo:GARD_3475 Myelomeningocele skos:exactMatch Orphanet:93969 semapv:UnspecifiedMatching +obo:GARD_348 Yolk sac tumor skos:exactMatch Orphanet:876 semapv:UnspecifiedMatching +obo:GARD_348 Yolk sac tumor skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +obo:GARD_3480 Cerebrooculonasal syndrome skos:exactMatch Orphanet:66625 semapv:UnspecifiedMatching +obo:GARD_3480 Cerebrooculonasal syndrome skos:narrowMatch OMIM:605627 semapv:UnspecifiedMatching +obo:GARD_3482 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:exactMatch Orphanet:1236 semapv:UnspecifiedMatching +obo:GARD_3485 Intellectual disability, Buenos-Aires type skos:exactMatch Orphanet:3079 semapv:UnspecifiedMatching +obo:GARD_3485 Intellectual disability, Buenos-Aires type skos:narrowMatch OMIM:249630 semapv:UnspecifiedMatching +obo:GARD_3491 Hernández-Aguirre Negrete syndrome skos:exactMatch Orphanet:2139 semapv:UnspecifiedMatching +obo:GARD_35 Tetrasomy 18p skos:exactMatch Orphanet:3307 semapv:UnspecifiedMatching +obo:GARD_35 Tetrasomy 18p skos:narrowMatch OMIM:614290 semapv:UnspecifiedMatching +obo:GARD_350 Skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch Orphanet:1858 semapv:UnspecifiedMatching +obo:GARD_350 Skeletal dysplasia-epilepsy-short stature syndrome skos:narrowMatch OMIM:601187 semapv:UnspecifiedMatching +obo:GARD_3505 Severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch Orphanet:404473 semapv:UnspecifiedMatching +obo:GARD_3505 Severe intellectual disability-progressive spastic diplegia syndrome skos:narrowMatch OMIM:615075 semapv:UnspecifiedMatching +obo:GARD_3506 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch Orphanet:3077 semapv:UnspecifiedMatching +obo:GARD_3506 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:narrowMatch OMIM:300055 semapv:UnspecifiedMatching +obo:GARD_351 Dacryocystitis-osteopoikilosis syndrome skos:exactMatch Orphanet:1562 semapv:UnspecifiedMatching +obo:GARD_351 Dacryocystitis-osteopoikilosis syndrome skos:narrowMatch OMIM:166705 semapv:UnspecifiedMatching +obo:GARD_3514 Intellectual disability-short stature-hypertelorism syndrome skos:exactMatch Orphanet:3074 semapv:UnspecifiedMatching +obo:GARD_3519 Metaphyseal acroscyphodysplasia skos:exactMatch Orphanet:1240 semapv:UnspecifiedMatching +obo:GARD_3519 Metaphyseal acroscyphodysplasia skos:narrowMatch OMIM:250215 semapv:UnspecifiedMatching +obo:GARD_3520 X-linked skeletal dysplasia-intellectual disability syndrome skos:exactMatch Orphanet:1436 semapv:UnspecifiedMatching +obo:GARD_3520 X-linked skeletal dysplasia-intellectual disability syndrome skos:narrowMatch OMIM:309620 semapv:UnspecifiedMatching +obo:GARD_3521 Intellectual disability-hypotonic facies syndrome, x-linked, 1 skos:broadMatch Orphanet:847 semapv:UnspecifiedMatching +obo:GARD_3521 Intellectual disability-hypotonic facies syndrome, x-linked, 1 skos:exactMatch OMIM:309580 semapv:UnspecifiedMatching +obo:GARD_3523 Intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch Orphanet:1891 semapv:UnspecifiedMatching +obo:GARD_3523 Intellectual disability-spasticity-ectrodactyly syndrome skos:narrowMatch OMIM:246555 semapv:UnspecifiedMatching +obo:GARD_3524 Mietens syndrome skos:exactMatch Orphanet:2557 semapv:UnspecifiedMatching +obo:GARD_3524 Mietens syndrome skos:narrowMatch OMIM:249600 semapv:UnspecifiedMatching +obo:GARD_3530 Intellectual disability, Wolff type skos:exactMatch Orphanet:3080 semapv:UnspecifiedMatching +obo:GARD_3530 Intellectual disability, Wolff type skos:narrowMatch OMIM:277990 semapv:UnspecifiedMatching +obo:GARD_3531 Monoamine oxidase A deficiency skos:exactMatch Orphanet:3057 semapv:UnspecifiedMatching +obo:GARD_3531 Monoamine oxidase A deficiency skos:narrowMatch OMIM:300615 semapv:UnspecifiedMatching +obo:GARD_3537 Atkin-Flaitz syndrome skos:exactMatch Orphanet:1193 semapv:UnspecifiedMatching +obo:GARD_3537 Atkin-Flaitz syndrome skos:narrowMatch OMIM:300431 semapv:UnspecifiedMatching +obo:GARD_354 Osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch Orphanet:2324 semapv:UnspecifiedMatching +obo:GARD_354 Osteopenia-intellectual disability-sparse hair syndrome skos:narrowMatch OMIM:259690 semapv:UnspecifiedMatching +obo:GARD_3552 Mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch Orphanet:2631 semapv:UnspecifiedMatching +obo:GARD_3552 Mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:narrowMatch OMIM:249710 semapv:UnspecifiedMatching +obo:GARD_3553 Langer mesomelic dysplasia skos:exactMatch Orphanet:2632 semapv:UnspecifiedMatching +obo:GARD_3553 Langer mesomelic dysplasia skos:narrowMatch OMIM:249700 semapv:UnspecifiedMatching +obo:GARD_3554 Mesomelic dysplasia, Nievergelt type skos:exactMatch Orphanet:2633 semapv:UnspecifiedMatching +obo:GARD_3554 Mesomelic dysplasia, Nievergelt type skos:narrowMatch OMIM:163400 semapv:UnspecifiedMatching +obo:GARD_3555 Mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch Orphanet:2634 semapv:UnspecifiedMatching +obo:GARD_3555 Mesomelic dwarfism, Reinhardt-Pfeiffer type skos:narrowMatch OMIM:191400 semapv:UnspecifiedMatching +obo:GARD_3559 Syndactyly type 8 skos:exactMatch Orphanet:2498 semapv:UnspecifiedMatching +obo:GARD_3559 Syndactyly type 8 skos:narrowMatch OMIM:309630 semapv:UnspecifiedMatching +obo:GARD_3560 Metachondromatosis skos:exactMatch Orphanet:2499 semapv:UnspecifiedMatching +obo:GARD_3560 Metachondromatosis skos:narrowMatch OMIM:156250 semapv:UnspecifiedMatching +obo:GARD_3562 Metaphyseal anadysplasia skos:exactMatch Orphanet:1040 semapv:UnspecifiedMatching +obo:GARD_3562 Metaphyseal anadysplasia skos:narrowMatch OMIM:602111 semapv:UnspecifiedMatching +obo:GARD_3562 Metaphyseal anadysplasia skos:narrowMatch OMIM:613073 semapv:UnspecifiedMatching +obo:GARD_3563 Metaphyseal chondrodysplasia, Spahr type skos:exactMatch Orphanet:2501 semapv:UnspecifiedMatching +obo:GARD_3563 Metaphyseal chondrodysplasia, Spahr type skos:narrowMatch OMIM:250400 semapv:UnspecifiedMatching +obo:GARD_3566 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch Orphanet:2502 semapv:UnspecifiedMatching +obo:GARD_3566 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:narrowMatch OMIM:250420 semapv:UnspecifiedMatching +obo:GARD_3568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch Orphanet:2504 semapv:UnspecifiedMatching +obo:GARD_3568 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:narrowMatch OMIM:156510 semapv:UnspecifiedMatching +obo:GARD_3571 Metatropic dysplasia skos:exactMatch Orphanet:2635 semapv:UnspecifiedMatching +obo:GARD_3571 Metatropic dysplasia skos:narrowMatch OMIM:156530 semapv:UnspecifiedMatching +obo:GARD_3573 Methimazole embryofetopathy skos:exactMatch Orphanet:1923 semapv:UnspecifiedMatching +obo:GARD_3575 Fetal methylmercury syndrome skos:exactMatch Orphanet:1917 semapv:UnspecifiedMatching +obo:GARD_3576 Methylcobalamin deficiency type cblE skos:exactMatch Orphanet:2169 semapv:UnspecifiedMatching +obo:GARD_3576 Methylcobalamin deficiency type cblE skos:narrowMatch OMIM:236270 semapv:UnspecifiedMatching +obo:GARD_3577 Methylcobalamin deficiency type cblG skos:exactMatch Orphanet:2170 semapv:UnspecifiedMatching +obo:GARD_3577 Methylcobalamin deficiency type cblG skos:narrowMatch OMIM:250940 semapv:UnspecifiedMatching +obo:GARD_3579 Methylmalonic acidemia with homocystinuria skos:exactMatch Orphanet:26 semapv:UnspecifiedMatching +obo:GARD_3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277380 semapv:UnspecifiedMatching +obo:GARD_3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277400 semapv:UnspecifiedMatching +obo:GARD_3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +obo:GARD_3579 Methylmalonic acidemia with homocystinuria skos:narrowMatch OMIM:614857 semapv:UnspecifiedMatching +obo:GARD_358 W syndrome skos:exactMatch Orphanet:2804 semapv:UnspecifiedMatching +obo:GARD_358 W syndrome skos:narrowMatch OMIM:311450 semapv:UnspecifiedMatching +obo:GARD_3582 Methylmalonic acidemia with homocystinuria, type cblD skos:exactMatch Orphanet:79283 semapv:UnspecifiedMatching +obo:GARD_3582 Methylmalonic acidemia with homocystinuria, type cblD skos:narrowMatch OMIM:277410 semapv:UnspecifiedMatching +obo:GARD_3584 Methylmalonic acidemia with homocystinuria type cblF skos:exactMatch Orphanet:79284 semapv:UnspecifiedMatching +obo:GARD_3584 Methylmalonic acidemia with homocystinuria type cblF skos:narrowMatch OMIM:277380 semapv:UnspecifiedMatching +obo:GARD_3586 Vitamin B12-unresponsive methylmalonic acidemia skos:exactMatch Orphanet:27 semapv:UnspecifiedMatching +obo:GARD_3586 Vitamin B12-unresponsive methylmalonic acidemia skos:narrowMatch OMIM:251000 semapv:UnspecifiedMatching +obo:GARD_3588 Mevalonic aciduria skos:exactMatch Orphanet:29 semapv:UnspecifiedMatching +obo:GARD_3588 Mevalonic aciduria skos:narrowMatch OMIM:610377 semapv:UnspecifiedMatching +obo:GARD_3589 Multiple benign circumferential skin creases on limbs skos:exactMatch Orphanet:2505 semapv:UnspecifiedMatching +obo:GARD_3589 Multiple benign circumferential skin creases on limbs skos:narrowMatch OMIM:156610 semapv:UnspecifiedMatching +obo:GARD_3589 Multiple benign circumferential skin creases on limbs skos:narrowMatch OMIM:616734 semapv:UnspecifiedMatching +obo:GARD_359 Cranioectodermal dysplasia skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching +obo:GARD_359 Cranioectodermal dysplasia skos:narrowMatch OMIM:218330 semapv:UnspecifiedMatching +obo:GARD_359 Cranioectodermal dysplasia skos:narrowMatch OMIM:613610 semapv:UnspecifiedMatching +obo:GARD_359 Cranioectodermal dysplasia skos:narrowMatch OMIM:614099 semapv:UnspecifiedMatching +obo:GARD_359 Cranioectodermal dysplasia skos:narrowMatch OMIM:614378 semapv:UnspecifiedMatching +obo:GARD_359 Cranioectodermal dysplasia skos:narrowMatch OMIM:617102 semapv:UnspecifiedMatching +obo:GARD_3596 Microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch Orphanet:2511 semapv:UnspecifiedMatching +obo:GARD_3596 Microbrachycephaly-ptosis-cleft lip syndrome skos:narrowMatch OMIM:268850 semapv:UnspecifiedMatching +obo:GARD_360 Abruzzo-Erickson syndrome skos:exactMatch Orphanet:921 semapv:UnspecifiedMatching +obo:GARD_360 Abruzzo-Erickson syndrome skos:narrowMatch OMIM:302905 semapv:UnspecifiedMatching +obo:GARD_3602 Microcephalic primordial dwarfism, Toriello type skos:exactMatch Orphanet:2643 semapv:UnspecifiedMatching +obo:GARD_3602 Microcephalic primordial dwarfism, Toriello type skos:narrowMatch OMIM:251190 semapv:UnspecifiedMatching +obo:GARD_3603 Isolated congenital microcephaly skos:exactMatch Orphanet:199642 semapv:UnspecifiedMatching +obo:GARD_3604 Microcephaly-albinism-digital anomalies syndrome skos:exactMatch Orphanet:2513 semapv:UnspecifiedMatching +obo:GARD_3604 Microcephaly-albinism-digital anomalies syndrome skos:narrowMatch OMIM:203340 semapv:UnspecifiedMatching +obo:GARD_3605 Autosomal dominant primary microcephaly skos:exactMatch Orphanet:2514 semapv:UnspecifiedMatching +obo:GARD_3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:156580 semapv:UnspecifiedMatching +obo:GARD_3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:616311 semapv:UnspecifiedMatching +obo:GARD_3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:617520 semapv:UnspecifiedMatching +obo:GARD_3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:619179 semapv:UnspecifiedMatching +obo:GARD_3605 Autosomal dominant primary microcephaly skos:narrowMatch OMIM:619180 semapv:UnspecifiedMatching +obo:GARD_3607 Microcephaly-brain defect-spasticity-hypernatremia syndrome skos:exactMatch Orphanet:2523 semapv:UnspecifiedMatching +obo:GARD_3609 Microcephaly-cardiomyopathy syndrome skos:exactMatch Orphanet:2515 semapv:UnspecifiedMatching +obo:GARD_3609 Microcephaly-cardiomyopathy syndrome skos:narrowMatch OMIM:251220 semapv:UnspecifiedMatching +obo:GARD_361 Acalvaria skos:exactMatch Orphanet:945 semapv:UnspecifiedMatching +obo:GARD_3610 Microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch Orphanet:2522 semapv:UnspecifiedMatching +obo:GARD_3610 Microcephaly-cervical spine fusion anomalies syndrome skos:narrowMatch OMIM:251250 semapv:UnspecifiedMatching +obo:GARD_3615 Microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch Orphanet:2172 semapv:UnspecifiedMatching +obo:GARD_3615 Microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:narrowMatch OMIM:248760 semapv:UnspecifiedMatching +obo:GARD_3617 Mikati-Najjar-Sahli syndrome skos:exactMatch Orphanet:2558 semapv:UnspecifiedMatching +obo:GARD_3622 Microcephaly-lymphedema-chorioretinopathy syndrome skos:exactMatch Orphanet:2526 semapv:UnspecifiedMatching +obo:GARD_3622 Microcephaly-lymphedema-chorioretinopathy syndrome skos:narrowMatch OMIM:152950 semapv:UnspecifiedMatching +obo:GARD_3627 Microcephaly-microcornea syndrome, Seemanova type skos:exactMatch Orphanet:2528 semapv:UnspecifiedMatching +obo:GARD_363 Acatalasemia skos:exactMatch Orphanet:926 semapv:UnspecifiedMatching +obo:GARD_363 Acatalasemia skos:narrowMatch OMIM:614097 semapv:UnspecifiedMatching +obo:GARD_3635 Congenital microcoria skos:exactMatch Orphanet:566 semapv:UnspecifiedMatching +obo:GARD_3635 Congenital microcoria skos:narrowMatch OMIM:156600 semapv:UnspecifiedMatching +obo:GARD_3637 Microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch Orphanet:2536 semapv:UnspecifiedMatching +obo:GARD_3637 Microcornea-glaucoma-absent frontal sinuses syndrome skos:narrowMatch OMIM:156700 semapv:UnspecifiedMatching +obo:GARD_364 Isolated arrhinia skos:exactMatch Orphanet:1134 semapv:UnspecifiedMatching +obo:GARD_3640 Microgastria-limb reduction defect syndrome skos:exactMatch Orphanet:2538 semapv:UnspecifiedMatching +obo:GARD_3640 Microgastria-limb reduction defect syndrome skos:narrowMatch OMIM:156810 semapv:UnspecifiedMatching +obo:GARD_3643 Autosomal dominant omodysplasia skos:exactMatch Orphanet:93328 semapv:UnspecifiedMatching +obo:GARD_3643 Autosomal dominant omodysplasia skos:narrowMatch OMIM:164745 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:exactMatch Orphanet:98938 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:251505 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:300345 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:601186 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:605738 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:610092 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:611638 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:613703 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:614497 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:615145 semapv:UnspecifiedMatching +obo:GARD_3644 Colobomatous microphthalmia skos:narrowMatch OMIM:616428 semapv:UnspecifiedMatching +obo:GARD_3645 Microphthalmia with brain and digit anomalies skos:exactMatch Orphanet:139471 semapv:UnspecifiedMatching +obo:GARD_3645 Microphthalmia with brain and digit anomalies skos:narrowMatch OMIM:607932 semapv:UnspecifiedMatching +obo:GARD_365 Aromatase deficiency skos:exactMatch Orphanet:91 semapv:UnspecifiedMatching +obo:GARD_365 Aromatase deficiency skos:narrowMatch OMIM:613546 semapv:UnspecifiedMatching +obo:GARD_3650 Microphthalmia-microtia-fetal akinesia syndrome skos:exactMatch Orphanet:2547 semapv:UnspecifiedMatching +obo:GARD_3652 Microscopic polyangiitis skos:exactMatch Orphanet:727 semapv:UnspecifiedMatching +obo:GARD_3653 Oculoauriculovertebral spectrum with radial defects skos:exactMatch Orphanet:2549 semapv:UnspecifiedMatching +obo:GARD_3653 Oculoauriculovertebral spectrum with radial defects skos:narrowMatch OMIM:141400 semapv:UnspecifiedMatching +obo:GARD_3655 Microsporidiosis skos:exactMatch Orphanet:2552 semapv:UnspecifiedMatching +obo:GARD_3659 Microphthalmia with linear skin defects syndrome skos:exactMatch Orphanet:2556 semapv:UnspecifiedMatching +obo:GARD_3659 Microphthalmia with linear skin defects syndrome skos:narrowMatch OMIM:300887 semapv:UnspecifiedMatching +obo:GARD_3659 Microphthalmia with linear skin defects syndrome skos:narrowMatch OMIM:300952 semapv:UnspecifiedMatching +obo:GARD_3659 Microphthalmia with linear skin defects syndrome skos:narrowMatch OMIM:309801 semapv:UnspecifiedMatching +obo:GARD_3668 Miller Fisher syndrome skos:exactMatch Orphanet:98919 semapv:UnspecifiedMatching +obo:GARD_3669 Miller-Dieker syndrome skos:exactMatch Orphanet:531 semapv:UnspecifiedMatching +obo:GARD_3669 Miller-Dieker syndrome skos:narrowMatch OMIM:247200 semapv:UnspecifiedMatching +obo:GARD_3671 Mitochondrial DNA-associated Leigh syndrome skos:exactMatch Orphanet:255210 semapv:UnspecifiedMatching +obo:GARD_3671 Mitochondrial DNA-associated Leigh syndrome skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +obo:GARD_3672 Non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch Orphanet:90031 semapv:UnspecifiedMatching +obo:GARD_3672 Non-spherocytic hemolytic anemia due to hexokinase deficiency skos:narrowMatch OMIM:235700 semapv:UnspecifiedMatching +obo:GARD_368 Laryngo-onycho-cutaneous syndrome skos:exactMatch Orphanet:2407 semapv:UnspecifiedMatching +obo:GARD_368 Laryngo-onycho-cutaneous syndrome skos:narrowMatch OMIM:245660 semapv:UnspecifiedMatching +obo:GARD_3681 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch Orphanet:1933 semapv:UnspecifiedMatching +obo:GARD_3681 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:narrowMatch OMIM:612073 semapv:UnspecifiedMatching +obo:GARD_3682 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch Orphanet:2597 semapv:UnspecifiedMatching +obo:GARD_3682 Mitochondrial myopathy-lactic acidosis-deafness syndrome skos:narrowMatch OMIM:251950 semapv:UnspecifiedMatching +obo:GARD_3684 Mitochondrial trifunctional protein deficiency skos:exactMatch Orphanet:746 semapv:UnspecifiedMatching +obo:GARD_3684 Mitochondrial trifunctional protein deficiency skos:narrowMatch OMIM:609015 semapv:UnspecifiedMatching +obo:GARD_3685 Mitral atresia skos:exactMatch Orphanet:1205 semapv:UnspecifiedMatching +obo:GARD_3687 Familial mitral valve prolapse skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching +obo:GARD_3687 Familial mitral valve prolapse skos:narrowMatch OMIM:157700 semapv:UnspecifiedMatching +obo:GARD_3687 Familial mitral valve prolapse skos:narrowMatch OMIM:607829 semapv:UnspecifiedMatching +obo:GARD_3687 Familial mitral valve prolapse skos:narrowMatch OMIM:610840 semapv:UnspecifiedMatching +obo:GARD_3688 Mitral valve prolapse 1 skos:broadMatch Orphanet:741 semapv:UnspecifiedMatching +obo:GARD_3688 Mitral valve prolapse 1 skos:exactMatch OMIM:157700 semapv:UnspecifiedMatching +obo:GARD_369 Xq21 microdeletion syndrome skos:exactMatch Orphanet:1435 semapv:UnspecifiedMatching +obo:GARD_369 Xq21 microdeletion syndrome skos:narrowMatch OMIM:303110 semapv:UnspecifiedMatching +obo:GARD_3690 Melorheostosis with osteopoikilosis skos:exactMatch Orphanet:1879 semapv:UnspecifiedMatching +obo:GARD_3692 Syndromic microphthalmia type 5 skos:exactMatch Orphanet:178364 semapv:UnspecifiedMatching +obo:GARD_3692 Syndromic microphthalmia type 5 skos:narrowMatch OMIM:610125 semapv:UnspecifiedMatching +obo:GARD_3693 MMEP syndrome skos:exactMatch Orphanet:3434 semapv:UnspecifiedMatching +obo:GARD_3693 MMEP syndrome skos:narrowMatch OMIM:601349 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:125850 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:125851 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:600496 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:606391 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:606392 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:606394 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:609812 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:610508 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:612225 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:613370 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:613375 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:616329 semapv:UnspecifiedMatching +obo:GARD_3697 MODY skos:narrowMatch OMIM:616511 semapv:UnspecifiedMatching +obo:GARD_3698 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2560 semapv:UnspecifiedMatching +obo:GARD_3699 Fryns syndrome skos:exactMatch Orphanet:2059 semapv:UnspecifiedMatching +obo:GARD_3699 Fryns syndrome skos:narrowMatch OMIM:229850 semapv:UnspecifiedMatching +obo:GARD_37 Partial deletion of the short arm of chromosome 3 skos:exactMatch Orphanet:261875 semapv:UnspecifiedMatching +obo:GARD_370 Cholestasis-lymphedema syndrome skos:exactMatch Orphanet:1414 semapv:UnspecifiedMatching +obo:GARD_370 Cholestasis-lymphedema syndrome skos:narrowMatch OMIM:214900 semapv:UnspecifiedMatching +obo:GARD_3701 Orofaciodigital syndrome type 2 skos:exactMatch Orphanet:2751 semapv:UnspecifiedMatching +obo:GARD_3701 Orofaciodigital syndrome type 2 skos:narrowMatch OMIM:252100 semapv:UnspecifiedMatching +obo:GARD_3704 Choroidal atrophy-alopecia syndrome skos:exactMatch Orphanet:1433 semapv:UnspecifiedMatching +obo:GARD_3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch Orphanet:99732 semapv:UnspecifiedMatching +obo:GARD_3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:narrowMatch OMIM:252150 semapv:UnspecifiedMatching +obo:GARD_3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:narrowMatch OMIM:252160 semapv:UnspecifiedMatching +obo:GARD_3705 Sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:narrowMatch OMIM:615501 semapv:UnspecifiedMatching +obo:GARD_3707 Tetramelic monodactyly skos:exactMatch Orphanet:2564 semapv:UnspecifiedMatching +obo:GARD_3707 Tetramelic monodactyly skos:narrowMatch OMIM:187510 semapv:UnspecifiedMatching +obo:GARD_371 Qazi-Markouizos syndrome skos:exactMatch Orphanet:3010 semapv:UnspecifiedMatching +obo:GARD_371 Qazi-Markouizos syndrome skos:narrowMatch OMIM:600096 semapv:UnspecifiedMatching +obo:GARD_3711 Distal monosomy 10q skos:exactMatch Orphanet:96148 semapv:UnspecifiedMatching +obo:GARD_3711 Distal monosomy 10q skos:narrowMatch OMIM:609625 semapv:UnspecifiedMatching +obo:GARD_372 Neurofibromatosis-Noonan syndrome skos:exactMatch Orphanet:638 semapv:UnspecifiedMatching +obo:GARD_372 Neurofibromatosis-Noonan syndrome skos:narrowMatch OMIM:601321 semapv:UnspecifiedMatching +obo:GARD_373 Quinquaud folliculitis decalvans skos:exactMatch Orphanet:346 semapv:UnspecifiedMatching +obo:GARD_3738 1q41q42 microdeletion syndrome skos:exactMatch Orphanet:250999 semapv:UnspecifiedMatching +obo:GARD_3738 1q41q42 microdeletion syndrome skos:narrowMatch OMIM:612530 semapv:UnspecifiedMatching +obo:GARD_374 Pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch Orphanet:2835 semapv:UnspecifiedMatching +obo:GARD_374 Pectus excavatum-macrocephaly-dysplastic nails syndrome skos:narrowMatch OMIM:600399 semapv:UnspecifiedMatching +obo:GARD_3746 2q24 microdeletion syndrome skos:exactMatch Orphanet:1617 semapv:UnspecifiedMatching +obo:GARD_375 Cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 semapv:UnspecifiedMatching +obo:GARD_375 Cleft lip/palate-ectodermal dysplasia syndrome skos:narrowMatch OMIM:225060 semapv:UnspecifiedMatching +obo:GARD_3750 Distal monosomy 3p skos:exactMatch Orphanet:1620 semapv:UnspecifiedMatching +obo:GARD_3750 Distal monosomy 3p skos:narrowMatch OMIM:613792 semapv:UnspecifiedMatching +obo:GARD_376 Acheiropodia skos:exactMatch Orphanet:931 semapv:UnspecifiedMatching +obo:GARD_376 Acheiropodia skos:narrowMatch OMIM:200500 semapv:UnspecifiedMatching +obo:GARD_3764 6q25 microdeletion syndrome skos:exactMatch Orphanet:251056 semapv:UnspecifiedMatching +obo:GARD_3764 6q25 microdeletion syndrome skos:narrowMatch OMIM:612863 semapv:UnspecifiedMatching +obo:GARD_3765 Familial monosomy 7 syndrome skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching +obo:GARD_3765 Familial monosomy 7 syndrome skos:narrowMatch OMIM:252270 semapv:UnspecifiedMatching +obo:GARD_3765 Familial monosomy 7 syndrome skos:narrowMatch OMIM:619041 semapv:UnspecifiedMatching +obo:GARD_3769 8p23.1 microdeletion syndrome skos:exactMatch Orphanet:251071 semapv:UnspecifiedMatching +obo:GARD_377 Congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:exactMatch Orphanet:973 semapv:UnspecifiedMatching +obo:GARD_377 Congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:narrowMatch OMIM:102650 semapv:UnspecifiedMatching +obo:GARD_3773 Monosomy 9p skos:exactMatch Orphanet:261112 semapv:UnspecifiedMatching +obo:GARD_3773 Monosomy 9p skos:narrowMatch OMIM:158170 semapv:UnspecifiedMatching +obo:GARD_378 Johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 semapv:UnspecifiedMatching +obo:GARD_378 Johnson neuroectodermal syndrome skos:narrowMatch OMIM:147770 semapv:UnspecifiedMatching +obo:GARD_3785 Mucopolysaccharidosis type 4A skos:exactMatch Orphanet:309297 semapv:UnspecifiedMatching +obo:GARD_3785 Mucopolysaccharidosis type 4A skos:narrowMatch OMIM:253000 semapv:UnspecifiedMatching +obo:GARD_3786 Mucopolysaccharidosis type 4B skos:exactMatch Orphanet:309310 semapv:UnspecifiedMatching +obo:GARD_3786 Mucopolysaccharidosis type 4B skos:narrowMatch OMIM:253010 semapv:UnspecifiedMatching +obo:GARD_3787 VIPoma skos:exactMatch Orphanet:97282 semapv:UnspecifiedMatching +obo:GARD_3788 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome skos:exactMatch Orphanet:2570 semapv:UnspecifiedMatching +obo:GARD_3788 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome skos:narrowMatch OMIM:306990 semapv:UnspecifiedMatching +obo:GARD_379 Renal tubular dysgenesis skos:exactMatch Orphanet:3033 semapv:UnspecifiedMatching +obo:GARD_379 Renal tubular dysgenesis skos:narrowMatch OMIM:267430 semapv:UnspecifiedMatching +obo:GARD_3791 Peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch Orphanet:2400 semapv:UnspecifiedMatching +obo:GARD_3791 Peripheral motor neuropathy-dysautonomia syndrome skos:narrowMatch OMIM:252320 semapv:UnspecifiedMatching +obo:GARD_3793 Mounier-Kühn syndrome skos:exactMatch Orphanet:3347 semapv:UnspecifiedMatching +obo:GARD_3793 Mounier-Kühn syndrome skos:narrowMatch OMIM:275300 semapv:UnspecifiedMatching +obo:GARD_3795 Spastic ataxia-corneal dystrophy syndrome skos:exactMatch Orphanet:2572 semapv:UnspecifiedMatching +obo:GARD_3795 Spastic ataxia-corneal dystrophy syndrome skos:narrowMatch OMIM:271320 semapv:UnspecifiedMatching +obo:GARD_380 Knobloch syndrome skos:exactMatch Orphanet:1571 semapv:UnspecifiedMatching +obo:GARD_380 Knobloch syndrome skos:narrowMatch OMIM:267750 semapv:UnspecifiedMatching +obo:GARD_3806 Mucolipidosis type III skos:exactMatch Orphanet:577 semapv:UnspecifiedMatching +obo:GARD_3806 Mucolipidosis type III skos:narrowMatch OMIM:252600 semapv:UnspecifiedMatching +obo:GARD_3806 Mucolipidosis type III skos:narrowMatch OMIM:252605 semapv:UnspecifiedMatching +obo:GARD_3807 Mucopolysaccharidosis type 3 skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +obo:GARD_3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252900 semapv:UnspecifiedMatching +obo:GARD_3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252920 semapv:UnspecifiedMatching +obo:GARD_3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252930 semapv:UnspecifiedMatching +obo:GARD_3807 Mucopolysaccharidosis type 3 skos:narrowMatch OMIM:252940 semapv:UnspecifiedMatching +obo:GARD_381 Arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch Orphanet:1129 semapv:UnspecifiedMatching +obo:GARD_3818 Multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch Orphanet:2774 semapv:UnspecifiedMatching +obo:GARD_3818 Multicentric carpo-tarsal osteolysis with or without nephropathy skos:narrowMatch OMIM:166300 semapv:UnspecifiedMatching +obo:GARD_3824 Multiple carboxylase deficiency skos:exactMatch Orphanet:148 semapv:UnspecifiedMatching +obo:GARD_3829 Multiple endocrine neoplasia type 1 skos:exactMatch Orphanet:652 semapv:UnspecifiedMatching +obo:GARD_3829 Multiple endocrine neoplasia type 1 skos:narrowMatch OMIM:131100 semapv:UnspecifiedMatching +obo:GARD_383 Albers-Schönberg osteopetrosis skos:exactMatch Orphanet:53 semapv:UnspecifiedMatching +obo:GARD_383 Albers-Schönberg osteopetrosis skos:narrowMatch OMIM:166600 semapv:UnspecifiedMatching +obo:GARD_3830 Multiple endocrine neoplasia type 2 skos:exactMatch Orphanet:653 semapv:UnspecifiedMatching +obo:GARD_3830 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:155240 semapv:UnspecifiedMatching +obo:GARD_3830 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:162300 semapv:UnspecifiedMatching +obo:GARD_3830 Multiple endocrine neoplasia type 2 skos:narrowMatch OMIM:171400 semapv:UnspecifiedMatching +obo:GARD_3834 Lethal multiple pterygium syndrome skos:exactMatch Orphanet:33108 semapv:UnspecifiedMatching +obo:GARD_3834 Lethal multiple pterygium syndrome skos:narrowMatch OMIM:253290 semapv:UnspecifiedMatching +obo:GARD_3836 Multiple synostoses syndrome skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching +obo:GARD_3836 Multiple synostoses syndrome skos:narrowMatch OMIM:186500 semapv:UnspecifiedMatching +obo:GARD_3836 Multiple synostoses syndrome skos:narrowMatch OMIM:610017 semapv:UnspecifiedMatching +obo:GARD_3836 Multiple synostoses syndrome skos:narrowMatch OMIM:612961 semapv:UnspecifiedMatching +obo:GARD_384 ADULT syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching +obo:GARD_384 ADULT syndrome skos:narrowMatch OMIM:103285 semapv:UnspecifiedMatching +obo:GARD_3843 Laminin subunit alpha 2-related congenital muscular dystrophy skos:exactMatch Orphanet:258 semapv:UnspecifiedMatching +obo:GARD_3843 Laminin subunit alpha 2-related congenital muscular dystrophy skos:narrowMatch OMIM:607855 semapv:UnspecifiedMatching +obo:GARD_3843 Laminin subunit alpha 2-related congenital muscular dystrophy skos:narrowMatch OMIM:618138 semapv:UnspecifiedMatching +obo:GARD_3844 TRIM32-related limb-girdle muscular dystrophy R8 skos:exactMatch Orphanet:1878 semapv:UnspecifiedMatching +obo:GARD_3844 TRIM32-related limb-girdle muscular dystrophy R8 skos:narrowMatch OMIM:254110 semapv:UnspecifiedMatching +obo:GARD_385 Zimmermann-Laband syndrome skos:exactMatch Orphanet:3473 semapv:UnspecifiedMatching +obo:GARD_385 Zimmermann-Laband syndrome skos:narrowMatch OMIM:135500 semapv:UnspecifiedMatching +obo:GARD_385 Zimmermann-Laband syndrome skos:narrowMatch OMIM:616455 semapv:UnspecifiedMatching +obo:GARD_385 Zimmermann-Laband syndrome skos:narrowMatch OMIM:618658 semapv:UnspecifiedMatching +obo:GARD_3851 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:exactMatch Orphanet:119 semapv:UnspecifiedMatching +obo:GARD_3851 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 skos:narrowMatch OMIM:604286 semapv:UnspecifiedMatching +obo:GARD_3856 Becker nevus syndrome skos:exactMatch Orphanet:64755 semapv:UnspecifiedMatching +obo:GARD_3856 Becker nevus syndrome skos:narrowMatch OMIM:604919 semapv:UnspecifiedMatching +obo:GARD_3858 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:exactMatch Orphanet:715 semapv:UnspecifiedMatching +obo:GARD_3858 Glycogen storage disease due to muscle phosphorylase kinase deficiency skos:narrowMatch OMIM:300559 semapv:UnspecifiedMatching +obo:GARD_386 Tetraamelia-multiple malformations syndrome skos:exactMatch Orphanet:3301 semapv:UnspecifiedMatching +obo:GARD_386 Tetraamelia-multiple malformations syndrome skos:narrowMatch OMIM:273395 semapv:UnspecifiedMatching +obo:GARD_386 Tetraamelia-multiple malformations syndrome skos:narrowMatch OMIM:618021 semapv:UnspecifiedMatching +obo:GARD_3862 Mycetoma skos:exactMatch Orphanet:2583 semapv:UnspecifiedMatching +obo:GARD_3863 Classic mycosis fungoides skos:exactMatch Orphanet:2584 semapv:UnspecifiedMatching +obo:GARD_3863 Classic mycosis fungoides skos:narrowMatch OMIM:254400 semapv:UnspecifiedMatching +obo:GARD_3865 Ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 semapv:UnspecifiedMatching +obo:GARD_3865 Ataxia-pancytopenia syndrome skos:narrowMatch OMIM:159550 semapv:UnspecifiedMatching +obo:GARD_3868 Myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching +obo:GARD_3868 Myeloperoxidase deficiency skos:narrowMatch OMIM:254600 semapv:UnspecifiedMatching +obo:GARD_387 Combined immunodeficiency due to ZAP70 deficiency skos:exactMatch Orphanet:911 semapv:UnspecifiedMatching +obo:GARD_387 Combined immunodeficiency due to ZAP70 deficiency skos:narrowMatch OMIM:269840 semapv:UnspecifiedMatching +obo:GARD_3872 Progressive myoclonic epilepsy type 6 skos:exactMatch Orphanet:280620 semapv:UnspecifiedMatching +obo:GARD_3872 Progressive myoclonic epilepsy type 6 skos:narrowMatch OMIM:614018 semapv:UnspecifiedMatching +obo:GARD_3873 Myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch Orphanet:2589 semapv:UnspecifiedMatching +obo:GARD_3873 Myoclonus-cerebellar ataxia-deafness syndrome skos:narrowMatch OMIM:159800 semapv:UnspecifiedMatching +obo:GARD_3875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch Orphanet:2590 semapv:UnspecifiedMatching +obo:GARD_3875 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:narrowMatch OMIM:159950 semapv:UnspecifiedMatching +obo:GARD_3876 Progressive myoclonic epilepsy type 1 skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching +obo:GARD_3876 Progressive myoclonic epilepsy type 1 skos:narrowMatch OMIM:254800 semapv:UnspecifiedMatching +obo:GARD_3876 Progressive myoclonic epilepsy type 1 skos:narrowMatch OMIM:310370 semapv:UnspecifiedMatching +obo:GARD_3876 Progressive myoclonic epilepsy type 1 skos:narrowMatch OMIM:612437 semapv:UnspecifiedMatching +obo:GARD_3879 Myoglobinuria, recurrent skos:broadMatch Orphanet:99845 semapv:UnspecifiedMatching +obo:GARD_3879 Myoglobinuria, recurrent skos:exactMatch OMIM:550500 semapv:UnspecifiedMatching +obo:GARD_3881 Myopathy and diabetes mellitus skos:exactMatch Orphanet:2596 semapv:UnspecifiedMatching +obo:GARD_3881 Myopathy and diabetes mellitus skos:narrowMatch OMIM:500002 semapv:UnspecifiedMatching +obo:GARD_3884 Tubular aggregate myopathy skos:exactMatch Orphanet:2593 semapv:UnspecifiedMatching +obo:GARD_3884 Tubular aggregate myopathy skos:narrowMatch OMIM:160565 semapv:UnspecifiedMatching +obo:GARD_3884 Tubular aggregate myopathy skos:narrowMatch OMIM:615883 semapv:UnspecifiedMatching +obo:GARD_3885 Mitochondrial myopathy and sideroblastic anemia skos:exactMatch Orphanet:2598 semapv:UnspecifiedMatching +obo:GARD_3885 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:500011 semapv:UnspecifiedMatching +obo:GARD_3885 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:600462 semapv:UnspecifiedMatching +obo:GARD_3885 Mitochondrial myopathy and sideroblastic anemia skos:narrowMatch OMIM:613561 semapv:UnspecifiedMatching +obo:GARD_3889 Carey-Fineman-Ziter syndrome skos:exactMatch Orphanet:1358 semapv:UnspecifiedMatching +obo:GARD_3889 Carey-Fineman-Ziter syndrome skos:narrowMatch OMIM:254940 semapv:UnspecifiedMatching +obo:GARD_3892 X-linked myopathy with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching +obo:GARD_3892 X-linked myopathy with excessive autophagy skos:narrowMatch OMIM:310440 semapv:UnspecifiedMatching +obo:GARD_3896 Inclusion body myositis skos:exactMatch Orphanet:611 semapv:UnspecifiedMatching +obo:GARD_3896 Inclusion body myositis skos:narrowMatch OMIM:147421 semapv:UnspecifiedMatching +obo:GARD_39 WT limb-blood syndrome skos:exactMatch Orphanet:3466 semapv:UnspecifiedMatching +obo:GARD_39 WT limb-blood syndrome skos:narrowMatch OMIM:194350 semapv:UnspecifiedMatching +obo:GARD_390 Endosteal hyperostosis, Worth type skos:exactMatch Orphanet:2790 semapv:UnspecifiedMatching +obo:GARD_390 Endosteal hyperostosis, Worth type skos:narrowMatch OMIM:144750 semapv:UnspecifiedMatching +obo:GARD_3902 N syndrome skos:exactMatch Orphanet:2608 semapv:UnspecifiedMatching +obo:GARD_3902 N syndrome skos:narrowMatch OMIM:310465 semapv:UnspecifiedMatching +obo:GARD_3903 Alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch Orphanet:79281 semapv:UnspecifiedMatching +obo:GARD_3903 Alpha-N-acetylgalactosaminidase deficiency type 3 skos:narrowMatch OMIM:609241 semapv:UnspecifiedMatching +obo:GARD_3904 Nijmegen breakage syndrome skos:exactMatch Orphanet:647 semapv:UnspecifiedMatching +obo:GARD_3904 Nijmegen breakage syndrome skos:narrowMatch OMIM:251260 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:252010 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:301020 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:301021 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618222 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618224 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618225 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618226 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618228 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618229 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618230 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618232 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618233 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618234 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618236 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618237 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618238 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618240 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618241 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618242 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618245 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618246 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618250 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618251 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618253 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:618776 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:619003 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:619170 semapv:UnspecifiedMatching +obo:GARD_3908 Isolated complex I deficiency skos:narrowMatch OMIM:619272 semapv:UnspecifiedMatching +obo:GARD_3909 Methemoglobin reductase deficiency skos:broadMatch Orphanet:621 semapv:UnspecifiedMatching +obo:GARD_3909 Methemoglobin reductase deficiency skos:exactMatch OMIM:250700 semapv:UnspecifiedMatching +obo:GARD_391 Osteomesopyknosis skos:exactMatch Orphanet:2777 semapv:UnspecifiedMatching +obo:GARD_391 Osteomesopyknosis skos:narrowMatch OMIM:166450 semapv:UnspecifiedMatching +obo:GARD_3912 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch Orphanet:69087 semapv:UnspecifiedMatching +obo:GARD_3912 Naegeli-Franceschetti-Jadassohn syndrome skos:narrowMatch OMIM:161000 semapv:UnspecifiedMatching +obo:GARD_3916 Proteasome-associated autoinflammatory syndrome 1 skos:broadMatch Orphanet:324977 semapv:UnspecifiedMatching +obo:GARD_3916 Proteasome-associated autoinflammatory syndrome 1 skos:exactMatch OMIM:256040 semapv:UnspecifiedMatching +obo:GARD_3919 Isolated growth hormone deficiency type IB skos:exactMatch Orphanet:231671 semapv:UnspecifiedMatching +obo:GARD_3919 Isolated growth hormone deficiency type IB skos:narrowMatch OMIM:612781 semapv:UnspecifiedMatching +obo:GARD_3919 Isolated growth hormone deficiency type IB skos:narrowMatch OMIM:618157 semapv:UnspecifiedMatching +obo:GARD_3921 Isolated growth hormone deficiency type III skos:exactMatch Orphanet:231692 semapv:UnspecifiedMatching +obo:GARD_3921 Isolated growth hormone deficiency type III skos:narrowMatch OMIM:300123 semapv:UnspecifiedMatching +obo:GARD_3921 Isolated growth hormone deficiency type III skos:narrowMatch OMIM:307200 semapv:UnspecifiedMatching +obo:GARD_3924 Growth hormone insensitivity syndrome skos:exactMatch Orphanet:181393 semapv:UnspecifiedMatching +obo:GARD_3927 Nasopalpebral lipoma-coloboma syndrome skos:exactMatch Orphanet:2399 semapv:UnspecifiedMatching +obo:GARD_3927 Nasopalpebral lipoma-coloboma syndrome skos:narrowMatch OMIM:167730 semapv:UnspecifiedMatching +obo:GARD_3928 Neuronal intestinal pseudoobstruction skos:exactMatch Orphanet:99811 semapv:UnspecifiedMatching +obo:GARD_3928 Neuronal intestinal pseudoobstruction skos:narrowMatch OMIM:243185 semapv:UnspecifiedMatching +obo:GARD_3929 Nathalie syndrome skos:exactMatch Orphanet:2663 semapv:UnspecifiedMatching +obo:GARD_3929 Nathalie syndrome skos:narrowMatch OMIM:255990 semapv:UnspecifiedMatching +obo:GARD_393 Tungiasis skos:exactMatch Orphanet:879 semapv:UnspecifiedMatching +obo:GARD_3931 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85408 semapv:UnspecifiedMatching +obo:GARD_3936 Perlman syndrome skos:exactMatch Orphanet:2849 semapv:UnspecifiedMatching +obo:GARD_3936 Perlman syndrome skos:narrowMatch OMIM:267000 semapv:UnspecifiedMatching +obo:GARD_394 Radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch Orphanet:3268 semapv:UnspecifiedMatching +obo:GARD_394 Radioulnar synostosis-microcephaly-scoliosis syndrome skos:narrowMatch OMIM:603438 semapv:UnspecifiedMatching +obo:GARD_3940 Nephropathy-deafness-hyperparathyroidism syndrome skos:exactMatch Orphanet:2668 semapv:UnspecifiedMatching +obo:GARD_3940 Nephropathy-deafness-hyperparathyroidism syndrome skos:narrowMatch OMIM:256120 semapv:UnspecifiedMatching +obo:GARD_3943 Nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch Orphanet:2669 semapv:UnspecifiedMatching +obo:GARD_3943 Nephrosis-deafness-urinary tract-digital malformations syndrome skos:narrowMatch OMIM:256200 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:256370 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:301028 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:600995 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:603278 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:603965 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:607832 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:610725 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:612551 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:613237 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:614131 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:614196 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615244 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615573 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:615861 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616002 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616032 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616220 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616730 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616892 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:616893 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618176 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618177 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618178 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:618179 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619155 semapv:UnspecifiedMatching +obo:GARD_3946 Genetic steroid-resistant nephrotic syndrome skos:narrowMatch OMIM:619201 semapv:UnspecifiedMatching +obo:GARD_3947 Congenital isolated hyperinsulinism skos:exactMatch Orphanet:657 semapv:UnspecifiedMatching +obo:GARD_3948 Tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch Orphanet:3350 semapv:UnspecifiedMatching +obo:GARD_3948 Tremor-nystagmus-duodenal ulcer syndrome skos:narrowMatch OMIM:190310 semapv:UnspecifiedMatching +obo:GARD_3949 Neuhauser-Eichner-Opitz syndrome skos:exactMatch Orphanet:2672 semapv:UnspecifiedMatching +obo:GARD_3949 Neuhauser-Eichner-Opitz syndrome skos:narrowMatch OMIM:130950 semapv:UnspecifiedMatching +obo:GARD_395 Retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch Orphanet:1574 semapv:UnspecifiedMatching +obo:GARD_395 Retinal degeneration-nanophthalmos-glaucoma syndrome skos:narrowMatch OMIM:267760 semapv:UnspecifiedMatching +obo:GARD_3953 Galactosialidosis skos:exactMatch Orphanet:351 semapv:UnspecifiedMatching +obo:GARD_3953 Galactosialidosis skos:narrowMatch OMIM:256540 semapv:UnspecifiedMatching +obo:GARD_3955 Amyotrophy, hereditary neuralgic skos:broadMatch Orphanet:2901 semapv:UnspecifiedMatching +obo:GARD_3955 Amyotrophy, hereditary neuralgic skos:exactMatch OMIM:162100 semapv:UnspecifiedMatching +obo:GARD_3956 Choreoacanthocytosis skos:exactMatch Orphanet:2388 semapv:UnspecifiedMatching +obo:GARD_3956 Choreoacanthocytosis skos:narrowMatch OMIM:200150 semapv:UnspecifiedMatching +obo:GARD_3957 Infantile neuroaxonal dystrophy skos:exactMatch Orphanet:35069 semapv:UnspecifiedMatching +obo:GARD_3957 Infantile neuroaxonal dystrophy skos:narrowMatch OMIM:256600 semapv:UnspecifiedMatching +obo:GARD_3957 Infantile neuroaxonal dystrophy skos:narrowMatch OMIM:610217 semapv:UnspecifiedMatching +obo:GARD_396 Tularemia skos:exactMatch Orphanet:3392 semapv:UnspecifiedMatching +obo:GARD_3964 Neurofaciodigitorenal syndrome skos:exactMatch Orphanet:2673 semapv:UnspecifiedMatching +obo:GARD_3964 Neurofaciodigitorenal syndrome skos:narrowMatch OMIM:256690 semapv:UnspecifiedMatching +obo:GARD_3967 Neurofibromatosis type 6 skos:exactMatch Orphanet:2678 semapv:UnspecifiedMatching +obo:GARD_3967 Neurofibromatosis type 6 skos:narrowMatch OMIM:114030 semapv:UnspecifiedMatching +obo:GARD_3971 Neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 semapv:UnspecifiedMatching +obo:GARD_3971 Neuronal intranuclear inclusion disease skos:narrowMatch OMIM:603472 semapv:UnspecifiedMatching +obo:GARD_3972 Navajo neurohepatopathy skos:exactMatch Orphanet:255229 semapv:UnspecifiedMatching +obo:GARD_3972 Navajo neurohepatopathy skos:narrowMatch OMIM:256810 semapv:UnspecifiedMatching +obo:GARD_3973 Charcot-Marie-Tooth disease type 4D skos:exactMatch Orphanet:99950 semapv:UnspecifiedMatching +obo:GARD_3973 Charcot-Marie-Tooth disease type 4D skos:narrowMatch OMIM:601455 semapv:UnspecifiedMatching +obo:GARD_3976 Hereditary sensory and autonomic neuropathy type 2 skos:exactMatch Orphanet:970 semapv:UnspecifiedMatching +obo:GARD_3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:201300 semapv:UnspecifiedMatching +obo:GARD_3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:243000 semapv:UnspecifiedMatching +obo:GARD_3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:613115 semapv:UnspecifiedMatching +obo:GARD_3976 Hereditary sensory and autonomic neuropathy type 2 skos:narrowMatch OMIM:614213 semapv:UnspecifiedMatching +obo:GARD_3979 Neutral lipid storage disease with ichthyosis skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching +obo:GARD_3979 Neutral lipid storage disease with ichthyosis skos:narrowMatch OMIM:275630 semapv:UnspecifiedMatching +obo:GARD_3981 X-linked severe congenital neutropenia skos:exactMatch Orphanet:86788 semapv:UnspecifiedMatching +obo:GARD_3981 X-linked severe congenital neutropenia skos:narrowMatch OMIM:300299 semapv:UnspecifiedMatching +obo:GARD_3982 Neutropenia-monocytopenia-deafness syndrome skos:exactMatch Orphanet:2690 semapv:UnspecifiedMatching +obo:GARD_3986 Familial multiple nevi flammei skos:exactMatch Orphanet:624 semapv:UnspecifiedMatching +obo:GARD_3986 Familial multiple nevi flammei skos:narrowMatch OMIM:163000 semapv:UnspecifiedMatching +obo:GARD_399 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 semapv:UnspecifiedMatching +obo:GARD_399 46,XX testicular disorder of sex development skos:narrowMatch OMIM:278850 semapv:UnspecifiedMatching +obo:GARD_399 46,XX testicular disorder of sex development skos:narrowMatch OMIM:300833 semapv:UnspecifiedMatching +obo:GARD_399 46,XX testicular disorder of sex development skos:narrowMatch OMIM:400045 semapv:UnspecifiedMatching +obo:GARD_3994 Night blindness-skeletal anomalies-dysmorphism syndrome skos:exactMatch Orphanet:1390 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:163500 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:257270 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:300071 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:310500 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:610427 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:610444 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:610445 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:613216 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:613830 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:614565 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:615058 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:616389 semapv:UnspecifiedMatching +obo:GARD_3995 Congenital stationary night blindness skos:narrowMatch OMIM:617024 semapv:UnspecifiedMatching +obo:GARD_3999 Ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch Orphanet:1884 semapv:UnspecifiedMatching +obo:GARD_400 GAPO syndrome skos:exactMatch Orphanet:2067 semapv:UnspecifiedMatching +obo:GARD_400 GAPO syndrome skos:narrowMatch OMIM:230740 semapv:UnspecifiedMatching +obo:GARD_4001 Noma skos:exactMatch Orphanet:2700 semapv:UnspecifiedMatching +obo:GARD_4003 Maternally-inherited diabetes and deafness skos:exactMatch Orphanet:225 semapv:UnspecifiedMatching +obo:GARD_4003 Maternally-inherited diabetes and deafness skos:narrowMatch OMIM:520000 semapv:UnspecifiedMatching +obo:GARD_4010 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:exactMatch Orphanet:1947 semapv:UnspecifiedMatching +obo:GARD_4010 Progressive epilepsy-intellectual disability syndrome, Finnish type skos:narrowMatch OMIM:610003 semapv:UnspecifiedMatching +obo:GARD_4011 Familial LCAT deficiency skos:exactMatch Orphanet:79293 semapv:UnspecifiedMatching +obo:GARD_4011 Familial LCAT deficiency skos:narrowMatch OMIM:245900 semapv:UnspecifiedMatching +obo:GARD_4014 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch Orphanet:2703 semapv:UnspecifiedMatching +obo:GARD_4017 Occipital horn syndrome skos:exactMatch Orphanet:198 semapv:UnspecifiedMatching +obo:GARD_4017 Occipital horn syndrome skos:narrowMatch OMIM:304150 semapv:UnspecifiedMatching +obo:GARD_4018 Primary tethered cord syndrome skos:exactMatch Orphanet:268861 semapv:UnspecifiedMatching +obo:GARD_402 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:broadMatch Orphanet:1215 semapv:UnspecifiedMatching +obo:GARD_402 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:exactMatch OMIM:165199 semapv:UnspecifiedMatching +obo:GARD_4031 Oculoauriculofrontonasal syndrome skos:exactMatch Orphanet:398156 semapv:UnspecifiedMatching +obo:GARD_4031 Oculoauriculofrontonasal syndrome skos:narrowMatch OMIM:601452 semapv:UnspecifiedMatching +obo:GARD_4034 Oculocerebral hypopigmentation syndrome, Preus type skos:exactMatch Orphanet:2720 semapv:UnspecifiedMatching +obo:GARD_4034 Oculocerebral hypopigmentation syndrome, Preus type skos:narrowMatch OMIM:257790 semapv:UnspecifiedMatching +obo:GARD_4037 Oculocutaneous albinism type 1 skos:exactMatch Orphanet:352731 semapv:UnspecifiedMatching +obo:GARD_4037 Oculocutaneous albinism type 1 skos:narrowMatch OMIM:203100 semapv:UnspecifiedMatching +obo:GARD_4037 Oculocutaneous albinism type 1 skos:narrowMatch OMIM:606952 semapv:UnspecifiedMatching +obo:GARD_4038 Oculocutaneous albinism type 2 skos:exactMatch Orphanet:79432 semapv:UnspecifiedMatching +obo:GARD_4038 Oculocutaneous albinism type 2 skos:narrowMatch OMIM:203200 semapv:UnspecifiedMatching +obo:GARD_4039 Oculocutaneous albinism type 3 skos:exactMatch Orphanet:79433 semapv:UnspecifiedMatching +obo:GARD_4039 Oculocutaneous albinism type 3 skos:narrowMatch OMIM:203290 semapv:UnspecifiedMatching +obo:GARD_404 Osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch Orphanet:2786 semapv:UnspecifiedMatching +obo:GARD_404 Osteoporosis-oculocutaneous hypopigmentation syndrome skos:narrowMatch OMIM:601220 semapv:UnspecifiedMatching +obo:GARD_4046 Oculomaxillofacial dysostosis skos:exactMatch Orphanet:1794 semapv:UnspecifiedMatching +obo:GARD_4047 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 semapv:UnspecifiedMatching +obo:GARD_4047 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome skos:narrowMatch OMIM:108145 semapv:UnspecifiedMatching +obo:GARD_4049 3mc syndrome 1 skos:broadMatch Orphanet:293843 semapv:UnspecifiedMatching +obo:GARD_4049 3mc syndrome 1 skos:exactMatch OMIM:257920 semapv:UnspecifiedMatching +obo:GARD_405 Subaortic stenosis-short stature syndrome skos:exactMatch Orphanet:3191 semapv:UnspecifiedMatching +obo:GARD_405 Subaortic stenosis-short stature syndrome skos:narrowMatch OMIM:271960 semapv:UnspecifiedMatching +obo:GARD_4050 Severe oculo-renal-cerebellar syndrome skos:exactMatch Orphanet:2715 semapv:UnspecifiedMatching +obo:GARD_4050 Severe oculo-renal-cerebellar syndrome skos:narrowMatch OMIM:257970 semapv:UnspecifiedMatching +obo:GARD_4051 Odonto-onycho dysplasia-alopecia syndrome skos:exactMatch Orphanet:2722 semapv:UnspecifiedMatching +obo:GARD_4053 Odontomicronychial dysplasia skos:exactMatch Orphanet:1811 semapv:UnspecifiedMatching +obo:GARD_4053 Odontomicronychial dysplasia skos:narrowMatch OMIM:601319 semapv:UnspecifiedMatching +obo:GARD_4054 Odonto-onycho-dermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching +obo:GARD_4054 Odonto-onycho-dermal dysplasia skos:narrowMatch OMIM:257980 semapv:UnspecifiedMatching +obo:GARD_406 Foveal hypoplasia-presenile cataract syndrome skos:exactMatch Orphanet:2253 semapv:UnspecifiedMatching +obo:GARD_406 Foveal hypoplasia-presenile cataract syndrome skos:narrowMatch OMIM:136520 semapv:UnspecifiedMatching +obo:GARD_4060 Orofaciodigital syndrome type 8 skos:exactMatch Orphanet:2755 semapv:UnspecifiedMatching +obo:GARD_4060 Orofaciodigital syndrome type 8 skos:narrowMatch OMIM:300484 semapv:UnspecifiedMatching +obo:GARD_4061 Orofaciodigital syndrome type 10 skos:exactMatch Orphanet:2756 semapv:UnspecifiedMatching +obo:GARD_4061 Orofaciodigital syndrome type 10 skos:narrowMatch OMIM:165590 semapv:UnspecifiedMatching +obo:GARD_4062 Infantile-onset spinocerebellar ataxia skos:exactMatch Orphanet:1186 semapv:UnspecifiedMatching +obo:GARD_4062 Infantile-onset spinocerebellar ataxia skos:narrowMatch OMIM:271245 semapv:UnspecifiedMatching +obo:GARD_4064 Okamoto syndrome skos:exactMatch Orphanet:2729 semapv:UnspecifiedMatching +obo:GARD_4064 Okamoto syndrome skos:narrowMatch OMIM:604916 semapv:UnspecifiedMatching +obo:GARD_4065 Postaxial tetramelic oligodactyly skos:exactMatch Orphanet:2730 semapv:UnspecifiedMatching +obo:GARD_4065 Postaxial tetramelic oligodactyly skos:narrowMatch OMIM:176240 semapv:UnspecifiedMatching +obo:GARD_4066 Oligomeganephronia skos:exactMatch Orphanet:2260 semapv:UnspecifiedMatching +obo:GARD_4069 Oliver syndrome skos:exactMatch Orphanet:2920 semapv:UnspecifiedMatching +obo:GARD_4069 Oliver syndrome skos:narrowMatch OMIM:258200 semapv:UnspecifiedMatching +obo:GARD_407 Ermine phenotype skos:exactMatch Orphanet:999 semapv:UnspecifiedMatching +obo:GARD_407 Ermine phenotype skos:narrowMatch OMIM:227010 semapv:UnspecifiedMatching +obo:GARD_4070 Olivopontocerebellar atrophy-deafness syndrome skos:exactMatch Orphanet:2732 semapv:UnspecifiedMatching +obo:GARD_4071 Spinocerebellar ataxia type 1 skos:exactMatch Orphanet:98755 semapv:UnspecifiedMatching +obo:GARD_4071 Spinocerebellar ataxia type 1 skos:narrowMatch OMIM:164400 semapv:UnspecifiedMatching +obo:GARD_4072 Spinocerebellar ataxia type 2 skos:exactMatch Orphanet:98756 semapv:UnspecifiedMatching +obo:GARD_4072 Spinocerebellar ataxia type 2 skos:narrowMatch OMIM:183090 semapv:UnspecifiedMatching +obo:GARD_4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:exactMatch Orphanet:659 semapv:UnspecifiedMatching +obo:GARD_4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:300918 semapv:UnspecifiedMatching +obo:GARD_4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:614594 semapv:UnspecifiedMatching +obo:GARD_4075 Mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:narrowMatch OMIM:619208 semapv:UnspecifiedMatching +obo:GARD_4076 Autosomal recessive omodysplasia skos:exactMatch Orphanet:93329 semapv:UnspecifiedMatching +obo:GARD_4076 Autosomal recessive omodysplasia skos:narrowMatch OMIM:258315 semapv:UnspecifiedMatching +obo:GARD_4079 Lethal omphalocele-cleft palate syndrome skos:exactMatch Orphanet:2736 semapv:UnspecifiedMatching +obo:GARD_4079 Lethal omphalocele-cleft palate syndrome skos:narrowMatch OMIM:258320 semapv:UnspecifiedMatching +obo:GARD_408 Short stature due to growth hormone qualitative anomaly skos:exactMatch Orphanet:629 semapv:UnspecifiedMatching +obo:GARD_408 Short stature due to growth hormone qualitative anomaly skos:narrowMatch OMIM:262650 semapv:UnspecifiedMatching +obo:GARD_4080 Cloacal exstrophy skos:exactMatch Orphanet:93929 semapv:UnspecifiedMatching +obo:GARD_4080 Cloacal exstrophy skos:narrowMatch OMIM:258040 semapv:UnspecifiedMatching +obo:GARD_4081 Omphalomesenteric cyst skos:exactMatch Orphanet:490 semapv:UnspecifiedMatching +obo:GARD_4083 Cooks syndrome skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching +obo:GARD_4083 Cooks syndrome skos:narrowMatch OMIM:106995 semapv:UnspecifiedMatching +obo:GARD_4085 Poikiloderma with neutropenia skos:exactMatch Orphanet:221046 semapv:UnspecifiedMatching +obo:GARD_4085 Poikiloderma with neutropenia skos:narrowMatch OMIM:604173 semapv:UnspecifiedMatching +obo:GARD_409 Pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2798 semapv:UnspecifiedMatching +obo:GARD_409 Pachygyria-intellectual disability-epilepsy syndrome skos:narrowMatch OMIM:600176 semapv:UnspecifiedMatching +obo:GARD_4098 Opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching +obo:GARD_4098 Opsismodysplasia skos:narrowMatch OMIM:258480 semapv:UnspecifiedMatching +obo:GARD_4106 Renal coloboma syndrome skos:exactMatch Orphanet:1475 semapv:UnspecifiedMatching +obo:GARD_4106 Renal coloboma syndrome skos:narrowMatch OMIM:120330 semapv:UnspecifiedMatching +obo:GARD_4107 Optic pathway glioma skos:exactMatch Orphanet:2086 semapv:UnspecifiedMatching +obo:GARD_411 Sanjad-Sakati syndrome skos:exactMatch Orphanet:2323 semapv:UnspecifiedMatching +obo:GARD_411 Sanjad-Sakati syndrome skos:narrowMatch OMIM:241410 semapv:UnspecifiedMatching +obo:GARD_4116 Oromandibular-limb hypogenesis syndrome skos:exactMatch Orphanet:2749 semapv:UnspecifiedMatching +obo:GARD_4118 Orofaciodigital syndrome type 11 skos:exactMatch Orphanet:141000 semapv:UnspecifiedMatching +obo:GARD_4118 Orofaciodigital syndrome type 11 skos:narrowMatch OMIM:612913 semapv:UnspecifiedMatching +obo:GARD_4119 X-linked intellectual disability, Shashi type skos:exactMatch Orphanet:85286 semapv:UnspecifiedMatching +obo:GARD_4119 X-linked intellectual disability, Shashi type skos:narrowMatch OMIM:300238 semapv:UnspecifiedMatching +obo:GARD_412 Cheilitis glandularis skos:exactMatch Orphanet:1221 semapv:UnspecifiedMatching +obo:GARD_412 Cheilitis glandularis skos:narrowMatch OMIM:118330 semapv:UnspecifiedMatching +obo:GARD_4120 Orofaciodigital syndrome type 5 skos:exactMatch Orphanet:2919 semapv:UnspecifiedMatching +obo:GARD_4120 Orofaciodigital syndrome type 5 skos:narrowMatch OMIM:174300 semapv:UnspecifiedMatching +obo:GARD_4121 Orofaciodigital syndrome type 1 skos:exactMatch Orphanet:2750 semapv:UnspecifiedMatching +obo:GARD_4121 Orofaciodigital syndrome type 1 skos:narrowMatch OMIM:311200 semapv:UnspecifiedMatching +obo:GARD_4129 OSLAM syndrome skos:exactMatch Orphanet:2760 semapv:UnspecifiedMatching +obo:GARD_4129 OSLAM syndrome skos:narrowMatch OMIM:165660 semapv:UnspecifiedMatching +obo:GARD_413 Geroderma osteodysplastica skos:exactMatch Orphanet:2078 semapv:UnspecifiedMatching +obo:GARD_413 Geroderma osteodysplastica skos:narrowMatch OMIM:231070 semapv:UnspecifiedMatching +obo:GARD_4130 Otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:1427 semapv:UnspecifiedMatching +obo:GARD_4130 Otospondylomegaepiphyseal dysplasia skos:narrowMatch OMIM:215150 semapv:UnspecifiedMatching +obo:GARD_4131 Thiemann disease, familial form skos:exactMatch Orphanet:3314 semapv:UnspecifiedMatching +obo:GARD_4131 Thiemann disease, familial form skos:narrowMatch OMIM:165700 semapv:UnspecifiedMatching +obo:GARD_4133 Familial osteochondritis dissecans skos:exactMatch Orphanet:251262 semapv:UnspecifiedMatching +obo:GARD_4133 Familial osteochondritis dissecans skos:narrowMatch OMIM:165800 semapv:UnspecifiedMatching +obo:GARD_4136 Familial osteodysplasia, Anderson type skos:exactMatch Orphanet:2769 semapv:UnspecifiedMatching +obo:GARD_4136 Familial osteodysplasia, Anderson type skos:narrowMatch OMIM:259250 semapv:UnspecifiedMatching +obo:GARD_4139 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch Orphanet:2772 semapv:UnspecifiedMatching +obo:GARD_4139 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:narrowMatch OMIM:259410 semapv:UnspecifiedMatching +obo:GARD_414 Bamforth-Lazarus syndrome skos:exactMatch Orphanet:1226 semapv:UnspecifiedMatching +obo:GARD_414 Bamforth-Lazarus syndrome skos:narrowMatch OMIM:241850 semapv:UnspecifiedMatching +obo:GARD_4142 Osteoglosphonic dysplasia skos:exactMatch Orphanet:2645 semapv:UnspecifiedMatching +obo:GARD_4142 Osteoglosphonic dysplasia skos:narrowMatch OMIM:166250 semapv:UnspecifiedMatching +obo:GARD_4148 Osteopathia striata-cranial sclerosis syndrome skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching +obo:GARD_4148 Osteopathia striata-cranial sclerosis syndrome skos:narrowMatch OMIM:300373 semapv:UnspecifiedMatching +obo:GARD_415 Pseudoprogeria syndrome skos:exactMatch Orphanet:2985 semapv:UnspecifiedMatching +obo:GARD_415 Pseudoprogeria syndrome skos:narrowMatch OMIM:200130 semapv:UnspecifiedMatching +obo:GARD_4151 Autosomal dominant osteopetrosis type 1 skos:exactMatch Orphanet:2783 semapv:UnspecifiedMatching +obo:GARD_4151 Autosomal dominant osteopetrosis type 1 skos:narrowMatch OMIM:607634 semapv:UnspecifiedMatching +obo:GARD_4153 Osteopetrosis, autosomal recessive 5 skos:broadMatch Orphanet:85179 semapv:UnspecifiedMatching +obo:GARD_4153 Osteopetrosis, autosomal recessive 5 skos:exactMatch OMIM:259720 semapv:UnspecifiedMatching +obo:GARD_4154 Osteopetrosis with renal tubular acidosis skos:exactMatch Orphanet:2785 semapv:UnspecifiedMatching +obo:GARD_4154 Osteopetrosis with renal tubular acidosis skos:narrowMatch OMIM:259730 semapv:UnspecifiedMatching +obo:GARD_4154 Osteopetrosis with renal tubular acidosis skos:narrowMatch OMIM:267200 semapv:UnspecifiedMatching +obo:GARD_4155 Osteopetrosis and related disorders skos:exactMatch Orphanet:2781 semapv:UnspecifiedMatching +obo:GARD_4156 Intermediate osteopetrosis skos:exactMatch Orphanet:210110 semapv:UnspecifiedMatching +obo:GARD_4156 Intermediate osteopetrosis skos:narrowMatch OMIM:611497 semapv:UnspecifiedMatching +obo:GARD_4157 Osteopetrosis, autosomal recessive 2 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +obo:GARD_4157 Osteopetrosis, autosomal recessive 2 skos:exactMatch OMIM:259710 semapv:UnspecifiedMatching +obo:GARD_4160 Osteoporosis-pseudoglioma syndrome skos:exactMatch Orphanet:2788 semapv:UnspecifiedMatching +obo:GARD_4160 Osteoporosis-pseudoglioma syndrome skos:narrowMatch OMIM:259770 semapv:UnspecifiedMatching +obo:GARD_4163 Foix-Alajouanine syndrome skos:exactMatch Orphanet:79093 semapv:UnspecifiedMatching +obo:GARD_4166 Heart defect-tongue hamartoma-polysyndactyly syndrome skos:exactMatch Orphanet:1338 semapv:UnspecifiedMatching +obo:GARD_4166 Heart defect-tongue hamartoma-polysyndactyly syndrome skos:narrowMatch OMIM:217085 semapv:UnspecifiedMatching +obo:GARD_4168 Otodental syndrome skos:exactMatch Orphanet:2791 semapv:UnspecifiedMatching +obo:GARD_4168 Otodental syndrome skos:narrowMatch OMIM:166750 semapv:UnspecifiedMatching +obo:GARD_4169 Otofaciocervical syndrome skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching +obo:GARD_4169 Otofaciocervical syndrome skos:narrowMatch OMIM:166780 semapv:UnspecifiedMatching +obo:GARD_4169 Otofaciocervical syndrome skos:narrowMatch OMIM:615560 semapv:UnspecifiedMatching +obo:GARD_4170 Otoonychoperoneal syndrome skos:exactMatch Orphanet:2793 semapv:UnspecifiedMatching +obo:GARD_4170 Otoonychoperoneal syndrome skos:narrowMatch OMIM:259780 semapv:UnspecifiedMatching +obo:GARD_4176 Benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch Orphanet:1179 semapv:UnspecifiedMatching +obo:GARD_4176 Benign paroxysmal tonic upgaze of childhood with ataxia skos:narrowMatch OMIM:168885 semapv:UnspecifiedMatching +obo:GARD_418 Pentosuria skos:exactMatch Orphanet:2843 semapv:UnspecifiedMatching +obo:GARD_418 Pentosuria skos:narrowMatch OMIM:260800 semapv:UnspecifiedMatching +obo:GARD_4183 Overhydrated hereditary stomatocytosis skos:exactMatch Orphanet:3203 semapv:UnspecifiedMatching +obo:GARD_4183 Overhydrated hereditary stomatocytosis skos:narrowMatch OMIM:185000 semapv:UnspecifiedMatching +obo:GARD_4189 Epiphyseal stippling-osteoclastic hyperplasia syndrome skos:exactMatch Orphanet:1952 semapv:UnspecifiedMatching +obo:GARD_4189 Epiphyseal stippling-osteoclastic hyperplasia syndrome skos:narrowMatch OMIM:167220 semapv:UnspecifiedMatching +obo:GARD_4192 Extramammary Paget disease skos:exactMatch Orphanet:2800 semapv:UnspecifiedMatching +obo:GARD_4192 Extramammary Paget disease skos:narrowMatch OMIM:167300 semapv:UnspecifiedMatching +obo:GARD_4199 Hydrocephaly-low insertion umbilicus syndrome skos:exactMatch Orphanet:2184 semapv:UnspecifiedMatching +obo:GARD_42 Tetrasomy 9p skos:exactMatch Orphanet:3310 semapv:UnspecifiedMatching +obo:GARD_420 Mismatch repair cancer syndrome 1 skos:broadMatch Orphanet:252202 semapv:UnspecifiedMatching +obo:GARD_420 Mismatch repair cancer syndrome 1 skos:exactMatch OMIM:276300 semapv:UnspecifiedMatching +obo:GARD_4203 Partial pancreatic agenesis skos:exactMatch Orphanet:2805 semapv:UnspecifiedMatching +obo:GARD_4203 Partial pancreatic agenesis skos:narrowMatch OMIM:167755 semapv:UnspecifiedMatching +obo:GARD_4203 Partial pancreatic agenesis skos:narrowMatch OMIM:260370 semapv:UnspecifiedMatching +obo:GARD_4203 Partial pancreatic agenesis skos:narrowMatch OMIM:615935 semapv:UnspecifiedMatching +obo:GARD_4204 Adenoma of pancreas skos:exactMatch Orphanet:93292 semapv:UnspecifiedMatching +obo:GARD_4206 Familial pancreatic carcinoma skos:exactMatch Orphanet:1333 semapv:UnspecifiedMatching +obo:GARD_4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:260350 semapv:UnspecifiedMatching +obo:GARD_4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:606856 semapv:UnspecifiedMatching +obo:GARD_4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:613347 semapv:UnspecifiedMatching +obo:GARD_4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:613348 semapv:UnspecifiedMatching +obo:GARD_4206 Familial pancreatic carcinoma skos:narrowMatch OMIM:614320 semapv:UnspecifiedMatching +obo:GARD_4210 Pancreatoblastoma skos:exactMatch Orphanet:677 semapv:UnspecifiedMatching +obo:GARD_4213 Polyostotic fibrous dysplasia skos:exactMatch Orphanet:93276 semapv:UnspecifiedMatching +obo:GARD_4214 Papilloma of choroid plexus skos:exactMatch Orphanet:2807 semapv:UnspecifiedMatching +obo:GARD_4214 Papilloma of choroid plexus skos:narrowMatch OMIM:260500 semapv:UnspecifiedMatching +obo:GARD_4219 Autosomal dominant spastic paraplegia type 17 skos:exactMatch Orphanet:100998 semapv:UnspecifiedMatching +obo:GARD_4219 Autosomal dominant spastic paraplegia type 17 skos:narrowMatch OMIM:270685 semapv:UnspecifiedMatching +obo:GARD_4222 Parastremmatic dwarfism skos:exactMatch Orphanet:2646 semapv:UnspecifiedMatching +obo:GARD_4222 Parastremmatic dwarfism skos:narrowMatch OMIM:168400 semapv:UnspecifiedMatching +obo:GARD_4223 PARC syndrome skos:exactMatch Orphanet:2825 semapv:UnspecifiedMatching +obo:GARD_4223 PARC syndrome skos:narrowMatch OMIM:600331 semapv:UnspecifiedMatching +obo:GARD_4224 Paris-Trousseau thrombocytopenia skos:exactMatch Orphanet:851 semapv:UnspecifiedMatching +obo:GARD_4224 Paris-Trousseau thrombocytopenia skos:narrowMatch OMIM:188025 semapv:UnspecifiedMatching +obo:GARD_4224 Paris-Trousseau thrombocytopenia skos:narrowMatch OMIM:617443 semapv:UnspecifiedMatching +obo:GARD_4227 Idiopathic ventricular fibrillation, non Brugada type skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching +obo:GARD_4227 Idiopathic ventricular fibrillation, non Brugada type skos:narrowMatch OMIM:603829 semapv:UnspecifiedMatching +obo:GARD_4227 Idiopathic ventricular fibrillation, non Brugada type skos:narrowMatch OMIM:612956 semapv:UnspecifiedMatching +obo:GARD_4228 Neuralgic amyotrophy skos:exactMatch Orphanet:2901 semapv:UnspecifiedMatching +obo:GARD_4228 Neuralgic amyotrophy skos:narrowMatch OMIM:162100 semapv:UnspecifiedMatching +obo:GARD_4229 Partial atrioventricular septal defect skos:exactMatch Orphanet:1330 semapv:UnspecifiedMatching +obo:GARD_4235 Partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching +obo:GARD_4235 Partington syndrome skos:narrowMatch OMIM:309510 semapv:UnspecifiedMatching +obo:GARD_4236 Fetal parvovirus syndrome skos:exactMatch Orphanet:295 semapv:UnspecifiedMatching +obo:GARD_4238 Blepharonasofacial malformation syndrome skos:exactMatch Orphanet:1252 semapv:UnspecifiedMatching +obo:GARD_4238 Blepharonasofacial malformation syndrome skos:narrowMatch OMIM:110050 semapv:UnspecifiedMatching +obo:GARD_424 XK aprosencephaly syndrome skos:exactMatch Orphanet:3469 semapv:UnspecifiedMatching +obo:GARD_424 XK aprosencephaly syndrome skos:narrowMatch OMIM:207770 semapv:UnspecifiedMatching +obo:GARD_425 Tufted angioma skos:exactMatch Orphanet:1063 semapv:UnspecifiedMatching +obo:GARD_425 Tufted angioma skos:narrowMatch OMIM:607859 semapv:UnspecifiedMatching +obo:GARD_4259 Pseudoleprechaunism syndrome, Patterson type skos:exactMatch Orphanet:2976 semapv:UnspecifiedMatching +obo:GARD_4259 Pseudoleprechaunism syndrome, Patterson type skos:narrowMatch OMIM:169170 semapv:UnspecifiedMatching +obo:GARD_4260 Patterson-Stevenson-Fontaine syndrome skos:exactMatch Orphanet:2439 semapv:UnspecifiedMatching +obo:GARD_4260 Patterson-Stevenson-Fontaine syndrome skos:narrowMatch OMIM:183700 semapv:UnspecifiedMatching +obo:GARD_4261 Oligoarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85410 semapv:UnspecifiedMatching +obo:GARD_4264 PEHO syndrome skos:exactMatch Orphanet:2836 semapv:UnspecifiedMatching +obo:GARD_4264 PEHO syndrome skos:narrowMatch OMIM:260565 semapv:UnspecifiedMatching +obo:GARD_4265 Pelizaeus-Merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching +obo:GARD_4265 Pelizaeus-Merzbacher disease skos:narrowMatch OMIM:213900 semapv:UnspecifiedMatching +obo:GARD_4265 Pelizaeus-Merzbacher disease skos:narrowMatch OMIM:312080 semapv:UnspecifiedMatching +obo:GARD_4266 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation skos:exactMatch Orphanet:280293 semapv:UnspecifiedMatching +obo:GARD_4266 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation skos:narrowMatch OMIM:260600 semapv:UnspecifiedMatching +obo:GARD_4269 Pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch Orphanet:2840 semapv:UnspecifiedMatching +obo:GARD_4269 Pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:narrowMatch OMIM:602484 semapv:UnspecifiedMatching +obo:GARD_427 Ptosis-vocal cord paralysis syndrome skos:exactMatch Orphanet:2997 semapv:UnspecifiedMatching +obo:GARD_427 Ptosis-vocal cord paralysis syndrome skos:narrowMatch OMIM:193240 semapv:UnspecifiedMatching +obo:GARD_4270 Pemphigus vulgaris, familial skos:broadMatch Orphanet:704 semapv:UnspecifiedMatching +obo:GARD_4270 Pemphigus vulgaris, familial skos:exactMatch OMIM:169610 semapv:UnspecifiedMatching +obo:GARD_4271 Pendred syndrome skos:exactMatch Orphanet:705 semapv:UnspecifiedMatching +obo:GARD_4271 Pendred syndrome skos:narrowMatch OMIM:274600 semapv:UnspecifiedMatching +obo:GARD_4272 Penile agenesis skos:exactMatch Orphanet:49 semapv:UnspecifiedMatching +obo:GARD_4273 Penoscrotal transposition skos:exactMatch Orphanet:2842 semapv:UnspecifiedMatching +obo:GARD_4276 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch Orphanet:363665 semapv:UnspecifiedMatching +obo:GARD_4276 Acroosteolysis-keloid-like lesions-premature aging syndrome skos:narrowMatch OMIM:601812 semapv:UnspecifiedMatching +obo:GARD_4278 Phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:broadMatch Orphanet:2880 semapv:UnspecifiedMatching +obo:GARD_4278 Phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMatch OMIM:261680 semapv:UnspecifiedMatching +obo:GARD_4279 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:broadMatch Orphanet:2880 semapv:UnspecifiedMatching +obo:GARD_4279 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:exactMatch OMIM:261650 semapv:UnspecifiedMatching +obo:GARD_428 Craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch Orphanet:1521 semapv:UnspecifiedMatching +obo:GARD_429 Constriction rings syndrome skos:exactMatch Orphanet:295000 semapv:UnspecifiedMatching +obo:GARD_429 Constriction rings syndrome skos:narrowMatch OMIM:217100 semapv:UnspecifiedMatching +obo:GARD_4291 Alopecia-intellectual disability syndrome 2 skos:broadMatch Orphanet:2850 semapv:UnspecifiedMatching +obo:GARD_4291 Alopecia-intellectual disability syndrome 2 skos:exactMatch OMIM:610422 semapv:UnspecifiedMatching +obo:GARD_4299 Autosomal recessive distal osteolysis syndrome skos:exactMatch Orphanet:2776 semapv:UnspecifiedMatching +obo:GARD_4299 Autosomal recessive distal osteolysis syndrome skos:narrowMatch OMIM:259610 semapv:UnspecifiedMatching +obo:GARD_43 Mosaic trisomy 9 skos:exactMatch Orphanet:99776 semapv:UnspecifiedMatching +obo:GARD_4302 Mesomelia-synostoses syndrome skos:exactMatch Orphanet:2496 semapv:UnspecifiedMatching +obo:GARD_4302 Mesomelia-synostoses syndrome skos:narrowMatch OMIM:600383 semapv:UnspecifiedMatching +obo:GARD_4303 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch Orphanet:3224 semapv:UnspecifiedMatching +obo:GARD_4304 Preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch Orphanet:2921 semapv:UnspecifiedMatching +obo:GARD_4305 Pfeiffer-Palm-Teller syndrome skos:exactMatch Orphanet:2871 semapv:UnspecifiedMatching +obo:GARD_4305 Pfeiffer-Palm-Teller syndrome skos:narrowMatch OMIM:261560 semapv:UnspecifiedMatching +obo:GARD_431 Microtia skos:exactMatch Orphanet:83463 semapv:UnspecifiedMatching +obo:GARD_431 Microtia skos:narrowMatch OMIM:128800 semapv:UnspecifiedMatching +obo:GARD_431 Microtia skos:narrowMatch OMIM:600674 semapv:UnspecifiedMatching +obo:GARD_4311 Phakomatosis pigmentokeratotica skos:exactMatch Orphanet:2874 semapv:UnspecifiedMatching +obo:GARD_4312 Phakomatosis pigmentovascularis skos:exactMatch Orphanet:2875 semapv:UnspecifiedMatching +obo:GARD_4315 Phenobarbital embryopathy skos:exactMatch Orphanet:1919 semapv:UnspecifiedMatching +obo:GARD_4319 Dihydropteridine reductase deficiency skos:exactMatch Orphanet:226 semapv:UnspecifiedMatching +obo:GARD_4319 Dihydropteridine reductase deficiency skos:narrowMatch OMIM:261630 semapv:UnspecifiedMatching +obo:GARD_4323 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch Orphanet:2878 semapv:UnspecifiedMatching +obo:GARD_4323 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:narrowMatch OMIM:171480 semapv:UnspecifiedMatching +obo:GARD_4329 PGM1-CDG skos:exactMatch Orphanet:319646 semapv:UnspecifiedMatching +obo:GARD_4329 PGM1-CDG skos:narrowMatch OMIM:614921 semapv:UnspecifiedMatching +obo:GARD_433 Apparent mineralocorticoid excess skos:exactMatch Orphanet:320 semapv:UnspecifiedMatching +obo:GARD_433 Apparent mineralocorticoid excess skos:narrowMatch OMIM:218030 semapv:UnspecifiedMatching +obo:GARD_4331 PGM3-CDG skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching +obo:GARD_4331 PGM3-CDG skos:narrowMatch OMIM:615816 semapv:UnspecifiedMatching +obo:GARD_4337 Phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:3222 semapv:UnspecifiedMatching +obo:GARD_4337 Phosphoribosylpyrophosphate synthetase superactivity skos:narrowMatch OMIM:300661 semapv:UnspecifiedMatching +obo:GARD_434 Hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 semapv:UnspecifiedMatching +obo:GARD_434 Hydrocephalus with stenosis of the aqueduct of Sylvius skos:narrowMatch OMIM:307000 semapv:UnspecifiedMatching +obo:GARD_4344 Piebaldism skos:exactMatch Orphanet:2884 semapv:UnspecifiedMatching +obo:GARD_4344 Piebaldism skos:narrowMatch OMIM:172800 semapv:UnspecifiedMatching +obo:GARD_4346 Autosomal dominant cerebellar ataxia skos:exactMatch Orphanet:99 semapv:UnspecifiedMatching +obo:GARD_4347 Isolated Pierre Robin syndrome skos:exactMatch Orphanet:718 semapv:UnspecifiedMatching +obo:GARD_4347 Isolated Pierre Robin syndrome skos:narrowMatch OMIM:261800 semapv:UnspecifiedMatching +obo:GARD_435 Cleft lip-retinopathy syndrome skos:exactMatch Orphanet:1995 semapv:UnspecifiedMatching +obo:GARD_4357 Late-onset retinal degeneration skos:exactMatch Orphanet:67042 semapv:UnspecifiedMatching +obo:GARD_4357 Late-onset retinal degeneration skos:narrowMatch OMIM:605670 semapv:UnspecifiedMatching +obo:GARD_4358 Severe combined immunodeficiency due to FOXN1 deficiency skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching +obo:GARD_4358 Severe combined immunodeficiency due to FOXN1 deficiency skos:narrowMatch OMIM:601705 semapv:UnspecifiedMatching +obo:GARD_4358 Severe combined immunodeficiency due to FOXN1 deficiency skos:narrowMatch OMIM:618806 semapv:UnspecifiedMatching +obo:GARD_4359 Ringed hair disease skos:exactMatch Orphanet:169 semapv:UnspecifiedMatching +obo:GARD_4359 Ringed hair disease skos:narrowMatch OMIM:180600 semapv:UnspecifiedMatching +obo:GARD_436 Adult-onset Still disease skos:exactMatch Orphanet:829 semapv:UnspecifiedMatching +obo:GARD_4361 Pili torti skos:exactMatch Orphanet:2889 semapv:UnspecifiedMatching +obo:GARD_4361 Pili torti skos:narrowMatch OMIM:261900 semapv:UnspecifiedMatching +obo:GARD_4362 Pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch Orphanet:2891 semapv:UnspecifiedMatching +obo:GARD_4362 Pili torti-developmental delay-neurological abnormalities syndrome skos:narrowMatch OMIM:261990 semapv:UnspecifiedMatching +obo:GARD_4364 Pili torti-onychodysplasia syndrome skos:exactMatch Orphanet:2890 semapv:UnspecifiedMatching +obo:GARD_4365 Ophthalmomandibulomelic dysplasia skos:exactMatch Orphanet:2741 semapv:UnspecifiedMatching +obo:GARD_4365 Ophthalmomandibulomelic dysplasia skos:narrowMatch OMIM:164900 semapv:UnspecifiedMatching +obo:GARD_4369 Trichodermodysplasia-dental alterations syndrome skos:exactMatch Orphanet:3353 semapv:UnspecifiedMatching +obo:GARD_4372 Pitt-Hopkins syndrome skos:exactMatch Orphanet:2896 semapv:UnspecifiedMatching +obo:GARD_4372 Pitt-Hopkins syndrome skos:narrowMatch OMIM:610954 semapv:UnspecifiedMatching +obo:GARD_4375 Thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch Orphanet:1078 semapv:UnspecifiedMatching +obo:GARD_4375 Thumb stiffness-brachydactyly-intellectual disability syndrome skos:narrowMatch OMIM:188201 semapv:UnspecifiedMatching +obo:GARD_438 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:exactMatch Orphanet:62 semapv:UnspecifiedMatching +obo:GARD_438 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 skos:narrowMatch OMIM:608099 semapv:UnspecifiedMatching +obo:GARD_4380 Hypoplasminogenemia skos:exactMatch Orphanet:722 semapv:UnspecifiedMatching +obo:GARD_4380 Hypoplasminogenemia skos:narrowMatch OMIM:217090 semapv:UnspecifiedMatching +obo:GARD_4381 Congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch Orphanet:465 semapv:UnspecifiedMatching +obo:GARD_4381 Congenital plasminogen activator inhibitor type 1 deficiency skos:narrowMatch OMIM:613329 semapv:UnspecifiedMatching +obo:GARD_4382 Platyspondylic dysplasia, Torrance type skos:exactMatch Orphanet:85166 semapv:UnspecifiedMatching +obo:GARD_4382 Platyspondylic dysplasia, Torrance type skos:narrowMatch OMIM:151210 semapv:UnspecifiedMatching +obo:GARD_4386 Pneumocystosis skos:exactMatch Orphanet:723 semapv:UnspecifiedMatching +obo:GARD_4391 Kindler epidermolysis bullosa skos:exactMatch Orphanet:2908 semapv:UnspecifiedMatching +obo:GARD_4392 Rothmund-Thomson syndrome skos:exactMatch Orphanet:2909 semapv:UnspecifiedMatching +obo:GARD_4392 Rothmund-Thomson syndrome skos:narrowMatch OMIM:268400 semapv:UnspecifiedMatching +obo:GARD_44 Haim-Munk syndrome skos:exactMatch Orphanet:2342 semapv:UnspecifiedMatching +obo:GARD_44 Haim-Munk syndrome skos:narrowMatch OMIM:245010 semapv:UnspecifiedMatching +obo:GARD_4410 Non-syndromic polydactyly skos:exactMatch Orphanet:2913 semapv:UnspecifiedMatching +obo:GARD_4410 Non-syndromic polydactyly skos:narrowMatch OMIM:603596 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:277170 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:300804 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:614815 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:615665 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:617127 semapv:UnspecifiedMatching +obo:GARD_4412 Orofaciodigital syndrome type 6 skos:narrowMatch OMIM:618763 semapv:UnspecifiedMatching +obo:GARD_4413 Polydactyly-myopia syndrome skos:exactMatch Orphanet:2917 semapv:UnspecifiedMatching +obo:GARD_4413 Polydactyly-myopia syndrome skos:narrowMatch OMIM:174310 semapv:UnspecifiedMatching +obo:GARD_4414 Polydactyly, postaxial, type a1 skos:broadMatch Orphanet:93334 semapv:UnspecifiedMatching +obo:GARD_4414 Polydactyly, postaxial, type a1 skos:exactMatch OMIM:174200 semapv:UnspecifiedMatching +obo:GARD_4417 Polydactyly of a biphalangeal thumb skos:exactMatch Orphanet:93339 semapv:UnspecifiedMatching +obo:GARD_4417 Polydactyly of a biphalangeal thumb skos:narrowMatch OMIM:174400 semapv:UnspecifiedMatching +obo:GARD_4421 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching +obo:GARD_4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:604772 semapv:UnspecifiedMatching +obo:GARD_4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:611938 semapv:UnspecifiedMatching +obo:GARD_4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:614021 semapv:UnspecifiedMatching +obo:GARD_4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:614916 semapv:UnspecifiedMatching +obo:GARD_4421 Catecholaminergic polymorphic ventricular tachycardia skos:narrowMatch OMIM:615441 semapv:UnspecifiedMatching +obo:GARD_4424 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:exactMatch Orphanet:2928 semapv:UnspecifiedMatching +obo:GARD_4427 Cronkhite-Canada syndrome skos:exactMatch Orphanet:2930 semapv:UnspecifiedMatching +obo:GARD_4427 Cronkhite-Canada syndrome skos:narrowMatch OMIM:175500 semapv:UnspecifiedMatching +obo:GARD_4428 Polysyndactyly-cardiac malformation syndrome skos:exactMatch Orphanet:2934 semapv:UnspecifiedMatching +obo:GARD_4428 Polysyndactyly-cardiac malformation syndrome skos:narrowMatch OMIM:263630 semapv:UnspecifiedMatching +obo:GARD_4434 Syndactyly type 4 skos:exactMatch Orphanet:93405 semapv:UnspecifiedMatching +obo:GARD_4434 Syndactyly type 4 skos:narrowMatch OMIM:186200 semapv:UnspecifiedMatching +obo:GARD_4436 Bartsocas-Papas syndrome skos:exactMatch Orphanet:1234 semapv:UnspecifiedMatching +obo:GARD_4436 Bartsocas-Papas syndrome skos:narrowMatch OMIM:263650 semapv:UnspecifiedMatching +obo:GARD_4436 Bartsocas-Papas syndrome skos:narrowMatch OMIM:619339 semapv:UnspecifiedMatching +obo:GARD_4437 Porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch Orphanet:2941 semapv:UnspecifiedMatching +obo:GARD_4437 Porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:narrowMatch OMIM:601322 semapv:UnspecifiedMatching +obo:GARD_4438 Porokeratosis of Mibelli skos:exactMatch Orphanet:735 semapv:UnspecifiedMatching +obo:GARD_4438 Porokeratosis of Mibelli skos:narrowMatch OMIM:175800 semapv:UnspecifiedMatching +obo:GARD_4438 Porokeratosis of Mibelli skos:narrowMatch OMIM:175900 semapv:UnspecifiedMatching +obo:GARD_4439 Punctate palmoplantar keratoderma type 2 skos:exactMatch Orphanet:79502 semapv:UnspecifiedMatching +obo:GARD_4439 Punctate palmoplantar keratoderma type 2 skos:narrowMatch OMIM:175860 semapv:UnspecifiedMatching +obo:GARD_4446 Congenital erythropoietic porphyria skos:exactMatch Orphanet:79277 semapv:UnspecifiedMatching +obo:GARD_4446 Congenital erythropoietic porphyria skos:narrowMatch OMIM:263700 semapv:UnspecifiedMatching +obo:GARD_4454 Postpoliomyelitis syndrome skos:exactMatch Orphanet:2942 semapv:UnspecifiedMatching +obo:GARD_4457 Posterior uveitis skos:exactMatch Orphanet:280892 semapv:UnspecifiedMatching +obo:GARD_4459 Potassium-aggravated myotonia skos:exactMatch Orphanet:612 semapv:UnspecifiedMatching +obo:GARD_4459 Potassium-aggravated myotonia skos:narrowMatch OMIM:608390 semapv:UnspecifiedMatching +obo:GARD_4465 PHAVER syndrome skos:exactMatch Orphanet:2876 semapv:UnspecifiedMatching +obo:GARD_4465 PHAVER syndrome skos:narrowMatch OMIM:261575 semapv:UnspecifiedMatching +obo:GARD_4470 Guttmacher syndrome skos:exactMatch Orphanet:2957 semapv:UnspecifiedMatching +obo:GARD_4470 Guttmacher syndrome skos:narrowMatch OMIM:176305 semapv:UnspecifiedMatching +obo:GARD_4475 Familial male-limited precocious puberty skos:exactMatch Orphanet:3000 semapv:UnspecifiedMatching +obo:GARD_4475 Familial male-limited precocious puberty skos:narrowMatch OMIM:176410 semapv:UnspecifiedMatching +obo:GARD_4477 Congenital prekallikrein deficiency skos:exactMatch Orphanet:749 semapv:UnspecifiedMatching +obo:GARD_4477 Congenital prekallikrein deficiency skos:narrowMatch OMIM:612423 semapv:UnspecifiedMatching +obo:GARD_448 Vici syndrome skos:exactMatch Orphanet:1493 semapv:UnspecifiedMatching +obo:GARD_448 Vici syndrome skos:narrowMatch OMIM:242840 semapv:UnspecifiedMatching +obo:GARD_4482 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome skos:exactMatch Orphanet:2958 semapv:UnspecifiedMatching +obo:GARD_4482 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome skos:narrowMatch OMIM:309610 semapv:UnspecifiedMatching +obo:GARD_4483 Griscelli syndrome type 2 skos:exactMatch Orphanet:79477 semapv:UnspecifiedMatching +obo:GARD_4483 Griscelli syndrome type 2 skos:narrowMatch OMIM:607624 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:215518 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:215520 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:242670 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:242680 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:244400 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:300991 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:606763 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:608644 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:608646 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:608647 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:610852 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:611884 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612274 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612444 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612518 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612649 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:612650 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:613193 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:613807 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:613808 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614017 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614679 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614874 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:614935 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615067 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615294 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615444 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615451 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615481 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615482 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615500 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615504 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615505 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:615872 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:616037 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:616481 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:616726 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:617091 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:617092 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:617577 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618063 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618449 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618695 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618781 semapv:UnspecifiedMatching +obo:GARD_4484 Primary ciliary dyskinesia skos:narrowMatch OMIM:618801 semapv:UnspecifiedMatching +obo:GARD_4485 Juvenile primary lateral sclerosis skos:exactMatch Orphanet:247604 semapv:UnspecifiedMatching +obo:GARD_4485 Juvenile primary lateral sclerosis skos:narrowMatch OMIM:606353 semapv:UnspecifiedMatching +obo:GARD_4488 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome skos:exactMatch Orphanet:3042 semapv:UnspecifiedMatching +obo:GARD_4488 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome skos:narrowMatch OMIM:259050 semapv:UnspecifiedMatching +obo:GARD_4494 Progeria-short stature-pigmented nevi syndrome skos:exactMatch Orphanet:2959 semapv:UnspecifiedMatching +obo:GARD_4494 Progeria-short stature-pigmented nevi syndrome skos:narrowMatch OMIM:176690 semapv:UnspecifiedMatching +obo:GARD_4497 Progeroid syndrome, Petty type skos:exactMatch Orphanet:2963 semapv:UnspecifiedMatching +obo:GARD_4497 Progeroid syndrome, Petty type skos:narrowMatch OMIM:612289 semapv:UnspecifiedMatching +obo:GARD_45 Congenital varicella syndrome skos:exactMatch Orphanet:291 semapv:UnspecifiedMatching +obo:GARD_4500 Acromelanosis skos:exactMatch Orphanet:39 semapv:UnspecifiedMatching +obo:GARD_4503 Progressive external ophthalmoplegia skos:exactMatch Orphanet:520820 semapv:UnspecifiedMatching +obo:GARD_4504 Deafness, x-linked 2 skos:broadMatch Orphanet:90641 semapv:UnspecifiedMatching +obo:GARD_4504 Deafness, x-linked 2 skos:exactMatch OMIM:304400 semapv:UnspecifiedMatching +obo:GARD_4507 Atypical progressive supranuclear palsy syndrome skos:exactMatch Orphanet:99750 semapv:UnspecifiedMatching +obo:GARD_4507 Atypical progressive supranuclear palsy syndrome skos:narrowMatch OMIM:260540 semapv:UnspecifiedMatching +obo:GARD_4508 Prolactinoma skos:exactMatch Orphanet:2965 semapv:UnspecifiedMatching +obo:GARD_4509 Proliferating trichilemmal cyst skos:exactMatch Orphanet:492 semapv:UnspecifiedMatching +obo:GARD_4513 Properdin deficiency skos:exactMatch Orphanet:2966 semapv:UnspecifiedMatching +obo:GARD_4513 Properdin deficiency skos:narrowMatch OMIM:312060 semapv:UnspecifiedMatching +obo:GARD_4518 Aprosencephaly cerebellar dysgenesis skos:exactMatch Orphanet:1126 semapv:UnspecifiedMatching +obo:GARD_4518 Aprosencephaly cerebellar dysgenesis skos:narrowMatch OMIM:601374 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:176807 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:300147 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:300704 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:601518 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:602759 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:603688 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:608656 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:608658 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:609299 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:609558 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:610321 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:610997 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:611100 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:611868 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:611928 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:611955 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:611958 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:611959 semapv:UnspecifiedMatching +obo:GARD_4520 Familial prostate cancer skos:narrowMatch OMIM:614731 semapv:UnspecifiedMatching +obo:GARD_4522 Transcobalamin I deficiency skos:exactMatch Orphanet:2967 semapv:UnspecifiedMatching +obo:GARD_4522 Transcobalamin I deficiency skos:narrowMatch OMIM:193090 semapv:UnspecifiedMatching +obo:GARD_4527 Autosomal erythropoietic protoporphyria skos:exactMatch Orphanet:79278 semapv:UnspecifiedMatching +obo:GARD_4527 Autosomal erythropoietic protoporphyria skos:narrowMatch OMIM:177000 semapv:UnspecifiedMatching +obo:GARD_4528 Corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching +obo:GARD_4528 Corpus callosum agenesis-abnormal genitalia syndrome skos:narrowMatch OMIM:300004 semapv:UnspecifiedMatching +obo:GARD_453 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch Orphanet:90301 semapv:UnspecifiedMatching +obo:GARD_453 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:narrowMatch OMIM:200170 semapv:UnspecifiedMatching +obo:GARD_4531 Proximal spinal muscular atrophy skos:exactMatch Orphanet:70 semapv:UnspecifiedMatching +obo:GARD_4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253300 semapv:UnspecifiedMatching +obo:GARD_4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253400 semapv:UnspecifiedMatching +obo:GARD_4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:253550 semapv:UnspecifiedMatching +obo:GARD_4531 Proximal spinal muscular atrophy skos:narrowMatch OMIM:271150 semapv:UnspecifiedMatching +obo:GARD_4536 Pseudopelade of Brocq skos:exactMatch Orphanet:129 semapv:UnspecifiedMatching +obo:GARD_4539 Bifunctional enzyme deficiency skos:exactMatch Orphanet:300 semapv:UnspecifiedMatching +obo:GARD_4539 Bifunctional enzyme deficiency skos:narrowMatch OMIM:261515 semapv:UnspecifiedMatching +obo:GARD_454 Accessory pancreas skos:exactMatch Orphanet:674 semapv:UnspecifiedMatching +obo:GARD_4540 Pseudoachondroplasia skos:exactMatch Orphanet:750 semapv:UnspecifiedMatching +obo:GARD_4540 Pseudoachondroplasia skos:narrowMatch OMIM:177170 semapv:UnspecifiedMatching +obo:GARD_4543 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch Orphanet:2971 semapv:UnspecifiedMatching +obo:GARD_4543 Peroxisomal acyl-CoA oxidase deficiency skos:narrowMatch OMIM:264470 semapv:UnspecifiedMatching +obo:GARD_4544 Pseudoaminopterin syndrome skos:exactMatch Orphanet:221120 semapv:UnspecifiedMatching +obo:GARD_4544 Pseudoaminopterin syndrome skos:narrowMatch OMIM:600325 semapv:UnspecifiedMatching +obo:GARD_455 Achalasia, familial esophageal skos:broadMatch Orphanet:930 semapv:UnspecifiedMatching +obo:GARD_455 Achalasia, familial esophageal skos:exactMatch OMIM:200400 semapv:UnspecifiedMatching +obo:GARD_4550 Disorder of sex development-intellectual disability syndrome skos:exactMatch Orphanet:2983 semapv:UnspecifiedMatching +obo:GARD_4550 Disorder of sex development-intellectual disability syndrome skos:narrowMatch OMIM:600122 semapv:UnspecifiedMatching +obo:GARD_4552 Generalized pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171876 semapv:UnspecifiedMatching +obo:GARD_4552 Generalized pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:264350 semapv:UnspecifiedMatching +obo:GARD_4553 Pseudohypoaldosteronism type 2 skos:exactMatch Orphanet:757 semapv:UnspecifiedMatching +obo:GARD_4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:145260 semapv:UnspecifiedMatching +obo:GARD_4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614491 semapv:UnspecifiedMatching +obo:GARD_4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614492 semapv:UnspecifiedMatching +obo:GARD_4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614495 semapv:UnspecifiedMatching +obo:GARD_4553 Pseudohypoaldosteronism type 2 skos:narrowMatch OMIM:614496 semapv:UnspecifiedMatching +obo:GARD_4559 Acrootoocular syndrome skos:exactMatch Orphanet:2980 semapv:UnspecifiedMatching +obo:GARD_4559 Acrootoocular syndrome skos:narrowMatch OMIM:264475 semapv:UnspecifiedMatching +obo:GARD_456 Achalasia-microcephaly syndrome skos:exactMatch Orphanet:929 semapv:UnspecifiedMatching +obo:GARD_456 Achalasia-microcephaly syndrome skos:narrowMatch OMIM:200450 semapv:UnspecifiedMatching +obo:GARD_4561 Idiopathic intracranial hypertension skos:exactMatch Orphanet:238624 semapv:UnspecifiedMatching +obo:GARD_4561 Idiopathic intracranial hypertension skos:narrowMatch OMIM:243200 semapv:UnspecifiedMatching +obo:GARD_4568 Pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch Orphanet:2988 semapv:UnspecifiedMatching +obo:GARD_4568 Pterygium colli-intellectual disability-digital anomalies syndrome skos:narrowMatch OMIM:600159 semapv:UnspecifiedMatching +obo:GARD_4569 Familial pterygium of the conjunctiva skos:exactMatch Orphanet:2989 semapv:UnspecifiedMatching +obo:GARD_4569 Familial pterygium of the conjunctiva skos:narrowMatch OMIM:178000 semapv:UnspecifiedMatching +obo:GARD_457 Triple A syndrome skos:exactMatch Orphanet:869 semapv:UnspecifiedMatching +obo:GARD_457 Triple A syndrome skos:narrowMatch OMIM:231550 semapv:UnspecifiedMatching +obo:GARD_457 Triple A syndrome skos:narrowMatch OMIM:615510 semapv:UnspecifiedMatching +obo:GARD_4570 Antecubital pterygium syndrome skos:exactMatch Orphanet:2987 semapv:UnspecifiedMatching +obo:GARD_4570 Antecubital pterygium syndrome skos:narrowMatch OMIM:178200 semapv:UnspecifiedMatching +obo:GARD_4573 X-linked lethal multiple pterygium syndrome skos:exactMatch Orphanet:79447 semapv:UnspecifiedMatching +obo:GARD_4573 X-linked lethal multiple pterygium syndrome skos:narrowMatch OMIM:312150 semapv:UnspecifiedMatching +obo:GARD_4577 Ptosis-strabismus-ectopic pupils syndrome skos:exactMatch Orphanet:2999 semapv:UnspecifiedMatching +obo:GARD_4577 Ptosis-strabismus-ectopic pupils syndrome skos:narrowMatch OMIM:178330 semapv:UnspecifiedMatching +obo:GARD_458 Spondylometaphyseal dysplasia, A4 type skos:exactMatch Orphanet:168555 semapv:UnspecifiedMatching +obo:GARD_458 Spondylometaphyseal dysplasia, A4 type skos:narrowMatch OMIM:609052 semapv:UnspecifiedMatching +obo:GARD_4582 Hereditary pulmonary alveolar proteinosis skos:exactMatch Orphanet:264675 semapv:UnspecifiedMatching +obo:GARD_4582 Hereditary pulmonary alveolar proteinosis skos:narrowMatch OMIM:300770 semapv:UnspecifiedMatching +obo:GARD_4582 Hereditary pulmonary alveolar proteinosis skos:narrowMatch OMIM:614370 semapv:UnspecifiedMatching +obo:GARD_4584 Pulmonary arteriovenous malformation skos:exactMatch Orphanet:2038 semapv:UnspecifiedMatching +obo:GARD_4584 Pulmonary arteriovenous malformation skos:narrowMatch OMIM:265140 semapv:UnspecifiedMatching +obo:GARD_4586 Abnormal origin of right or left pulmonary artery from the aorta skos:exactMatch Orphanet:99050 semapv:UnspecifiedMatching +obo:GARD_4588 Pulmonary atresia with ventricular septal defect skos:exactMatch Orphanet:1207 semapv:UnspecifiedMatching +obo:GARD_4588 Pulmonary atresia with ventricular septal defect skos:narrowMatch OMIM:178370 semapv:UnspecifiedMatching +obo:GARD_4589 Peripheral pulmonary stenosis skos:exactMatch Orphanet:99084 semapv:UnspecifiedMatching +obo:GARD_459 Achondrogenesis type 1A skos:exactMatch Orphanet:93299 semapv:UnspecifiedMatching +obo:GARD_459 Achondrogenesis type 1A skos:narrowMatch OMIM:200600 semapv:UnspecifiedMatching +obo:GARD_4593 Congenital pulmonary sequestration skos:exactMatch Orphanet:3161 semapv:UnspecifiedMatching +obo:GARD_4594 Supravalvular pulmonary stenosis skos:exactMatch Orphanet:3192 semapv:UnspecifiedMatching +obo:GARD_4597 Pulmonary valve agenesis skos:exactMatch Orphanet:982 semapv:UnspecifiedMatching +obo:GARD_4598 Congenital pulmonary veins atresia or stenosis skos:exactMatch Orphanet:3188 semapv:UnspecifiedMatching +obo:GARD_4599 Congenital pulmonary venous return anomaly skos:exactMatch Orphanet:3090 semapv:UnspecifiedMatching +obo:GARD_460 Achondrogenesis type 1B skos:exactMatch Orphanet:93298 semapv:UnspecifiedMatching +obo:GARD_460 Achondrogenesis type 1B skos:narrowMatch OMIM:600972 semapv:UnspecifiedMatching +obo:GARD_4600 Pulmonary atresia-intact ventricular septum syndrome skos:exactMatch Orphanet:1208 semapv:UnspecifiedMatching +obo:GARD_4600 Pulmonary atresia-intact ventricular septum syndrome skos:narrowMatch OMIM:265150 semapv:UnspecifiedMatching +obo:GARD_4603 Punctate acrokeratoderma freckle-like pigmentation skos:exactMatch Orphanet:99710 semapv:UnspecifiedMatching +obo:GARD_4606 Purine nucleoside phosphorylase deficiency skos:exactMatch Orphanet:760 semapv:UnspecifiedMatching +obo:GARD_4606 Purine nucleoside phosphorylase deficiency skos:narrowMatch OMIM:613179 semapv:UnspecifiedMatching +obo:GARD_4607 Immune-mediated thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 semapv:UnspecifiedMatching +obo:GARD_4610 Pyknoachondrogenesis skos:exactMatch Orphanet:3003 semapv:UnspecifiedMatching +obo:GARD_4610 Pyknoachondrogenesis skos:narrowMatch OMIM:265880 semapv:UnspecifiedMatching +obo:GARD_4611 Pycnodysostosis skos:exactMatch Orphanet:763 semapv:UnspecifiedMatching +obo:GARD_4611 Pycnodysostosis skos:narrowMatch OMIM:265800 semapv:UnspecifiedMatching +obo:GARD_4612 Pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatching +obo:GARD_4612 Pyle disease skos:narrowMatch OMIM:265900 semapv:UnspecifiedMatching +obo:GARD_4614 Pyomyositis skos:exactMatch Orphanet:764 semapv:UnspecifiedMatching +obo:GARD_4620 Pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch Orphanet:79243 semapv:UnspecifiedMatching +obo:GARD_4620 Pyruvate dehydrogenase E1-alpha deficiency skos:narrowMatch OMIM:312170 semapv:UnspecifiedMatching +obo:GARD_4627 Radial ray hypoplasia-choanal atresia syndrome skos:exactMatch Orphanet:3026 semapv:UnspecifiedMatching +obo:GARD_4627 Radial ray hypoplasia-choanal atresia syndrome skos:narrowMatch OMIM:179270 semapv:UnspecifiedMatching +obo:GARD_4628 Oculofaciocardiodental syndrome skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching +obo:GARD_4628 Oculofaciocardiodental syndrome skos:narrowMatch OMIM:300166 semapv:UnspecifiedMatching +obo:GARD_4633 Absent radius-anogenital anomalies syndrome skos:exactMatch Orphanet:3016 semapv:UnspecifiedMatching +obo:GARD_4633 Absent radius-anogenital anomalies syndrome skos:narrowMatch OMIM:312190 semapv:UnspecifiedMatching +obo:GARD_4634 Leukocyte adhesion deficiency type II skos:exactMatch Orphanet:99843 semapv:UnspecifiedMatching +obo:GARD_4634 Leukocyte adhesion deficiency type II skos:narrowMatch OMIM:266265 semapv:UnspecifiedMatching +obo:GARD_4635 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome skos:exactMatch Orphanet:3018 semapv:UnspecifiedMatching +obo:GARD_4635 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome skos:narrowMatch OMIM:277175 semapv:UnspecifiedMatching +obo:GARD_4636 Ramos-Arroyo syndrome skos:exactMatch Orphanet:1051 semapv:UnspecifiedMatching +obo:GARD_4636 Ramos-Arroyo syndrome skos:narrowMatch OMIM:122430 semapv:UnspecifiedMatching +obo:GARD_4637 RAPADILINO syndrome skos:exactMatch Orphanet:3021 semapv:UnspecifiedMatching +obo:GARD_4637 RAPADILINO syndrome skos:narrowMatch OMIM:266280 semapv:UnspecifiedMatching +obo:GARD_4638 External auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch Orphanet:3023 semapv:UnspecifiedMatching +obo:GARD_4638 External auditory canal atresia-vertical talus-hypertelorism syndrome skos:narrowMatch OMIM:133705 semapv:UnspecifiedMatching +obo:GARD_4641 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch Orphanet:2278 semapv:UnspecifiedMatching +obo:GARD_4641 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:narrowMatch OMIM:242530 semapv:UnspecifiedMatching +obo:GARD_4644 Ataxia-deafness-intellectual disability syndrome skos:exactMatch Orphanet:1188 semapv:UnspecifiedMatching +obo:GARD_4644 Ataxia-deafness-intellectual disability syndrome skos:narrowMatch OMIM:208850 semapv:UnspecifiedMatching +obo:GARD_4647 Complex regional pain syndrome skos:exactMatch Orphanet:83452 semapv:UnspecifiedMatching +obo:GARD_4647 Complex regional pain syndrome skos:narrowMatch OMIM:604335 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:exactMatch Orphanet:772 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:202370 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:266510 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:601539 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614863 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614867 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614871 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614873 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614877 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614885 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:614920 semapv:UnspecifiedMatching +obo:GARD_4648 Infantile Refsum disease skos:narrowMatch OMIM:617370 semapv:UnspecifiedMatching +obo:GARD_465 Isovaleric acidemia skos:exactMatch Orphanet:33 semapv:UnspecifiedMatching +obo:GARD_465 Isovaleric acidemia skos:narrowMatch OMIM:243500 semapv:UnspecifiedMatching +obo:GARD_4655 Renal caliceal diverticuli-deafness syndrome skos:exactMatch Orphanet:2838 semapv:UnspecifiedMatching +obo:GARD_4665 NPHP3-related Meckel-like syndrome skos:exactMatch Orphanet:3032 semapv:UnspecifiedMatching +obo:GARD_4665 NPHP3-related Meckel-like syndrome skos:narrowMatch OMIM:267010 semapv:UnspecifiedMatching +obo:GARD_4666 Autosomal recessive distal renal tubular acidosis skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching +obo:GARD_4666 Autosomal recessive distal renal tubular acidosis skos:narrowMatch OMIM:267300 semapv:UnspecifiedMatching +obo:GARD_4666 Autosomal recessive distal renal tubular acidosis skos:narrowMatch OMIM:602722 semapv:UnspecifiedMatching +obo:GARD_4667 Distal renal tubular acidosis skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +obo:GARD_4667 Distal renal tubular acidosis skos:narrowMatch OMIM:179800 semapv:UnspecifiedMatching +obo:GARD_4667 Distal renal tubular acidosis skos:narrowMatch OMIM:267300 semapv:UnspecifiedMatching +obo:GARD_4667 Distal renal tubular acidosis skos:narrowMatch OMIM:602722 semapv:UnspecifiedMatching +obo:GARD_4667 Distal renal tubular acidosis skos:narrowMatch OMIM:611590 semapv:UnspecifiedMatching +obo:GARD_4668 Autosomal dominant distal renal tubular acidosis skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching +obo:GARD_4668 Autosomal dominant distal renal tubular acidosis skos:narrowMatch OMIM:179800 semapv:UnspecifiedMatching +obo:GARD_467 Propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching +obo:GARD_467 Propionic acidemia skos:narrowMatch OMIM:606054 semapv:UnspecifiedMatching +obo:GARD_4680 X-linked retinal dysplasia skos:exactMatch Orphanet:1852 semapv:UnspecifiedMatching +obo:GARD_4680 X-linked retinal dysplasia skos:narrowMatch OMIM:312550 semapv:UnspecifiedMatching +obo:GARD_4683 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome skos:exactMatch Orphanet:3085 semapv:UnspecifiedMatching +obo:GARD_4683 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome skos:narrowMatch OMIM:268020 semapv:UnspecifiedMatching +obo:GARD_4684 Retinitis pigmentosa-deafness syndrome skos:broadMatch Orphanet:231183 semapv:UnspecifiedMatching +obo:GARD_4684 Retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 semapv:UnspecifiedMatching +obo:GARD_469 Pyramidal molars-abnormal upper lip syndrome skos:exactMatch Orphanet:2561 semapv:UnspecifiedMatching +obo:GARD_469 Pyramidal molars-abnormal upper lip syndrome skos:narrowMatch OMIM:200970 semapv:UnspecifiedMatching +obo:GARD_4690 X-linked retinoschisis skos:exactMatch Orphanet:792 semapv:UnspecifiedMatching +obo:GARD_4690 X-linked retinoschisis skos:narrowMatch OMIM:312700 semapv:UnspecifiedMatching +obo:GARD_4694 Atypical Rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +obo:GARD_4694 Atypical Rett syndrome skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +obo:GARD_4694 Atypical Rett syndrome skos:narrowMatch OMIM:312750 semapv:UnspecifiedMatching +obo:GARD_4694 Atypical Rett syndrome skos:narrowMatch OMIM:613454 semapv:UnspecifiedMatching +obo:GARD_4694 Atypical Rett syndrome skos:narrowMatch OMIM:617903 semapv:UnspecifiedMatching +obo:GARD_4694 Atypical Rett syndrome skos:narrowMatch OMIM:617904 semapv:UnspecifiedMatching +obo:GARD_4695 Revesz syndrome skos:exactMatch Orphanet:3088 semapv:UnspecifiedMatching +obo:GARD_4695 Revesz syndrome skos:narrowMatch OMIM:268130 semapv:UnspecifiedMatching +obo:GARD_4697 Reynolds syndrome skos:exactMatch Orphanet:779 semapv:UnspecifiedMatching +obo:GARD_4697 Reynolds syndrome skos:narrowMatch OMIM:613471 semapv:UnspecifiedMatching +obo:GARD_47 Crigler-Najjar syndrome type 1 skos:exactMatch Orphanet:79234 semapv:UnspecifiedMatching +obo:GARD_47 Crigler-Najjar syndrome type 1 skos:narrowMatch OMIM:218800 semapv:UnspecifiedMatching +obo:GARD_4701 Alveolar rhabdomyosarcoma skos:exactMatch Orphanet:99756 semapv:UnspecifiedMatching +obo:GARD_4701 Alveolar rhabdomyosarcoma skos:narrowMatch OMIM:268220 semapv:UnspecifiedMatching +obo:GARD_4702 Embryonal rhabdomyosarcoma skos:exactMatch Orphanet:99757 semapv:UnspecifiedMatching +obo:GARD_4702 Embryonal rhabdomyosarcoma skos:narrowMatch OMIM:268210 semapv:UnspecifiedMatching +obo:GARD_4703 Rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch Orphanet:2831 semapv:UnspecifiedMatching +obo:GARD_4703 Rhizomelic dysplasia, Patterson-Lowry type skos:narrowMatch OMIM:601438 semapv:UnspecifiedMatching +obo:GARD_4704 Polymyalgia rheumatica skos:exactMatch Orphanet:93569 semapv:UnspecifiedMatching +obo:GARD_4705 Rhizomelic syndrome, Urbach type skos:exactMatch Orphanet:3098 semapv:UnspecifiedMatching +obo:GARD_4705 Rhizomelic syndrome, Urbach type skos:narrowMatch OMIM:268250 semapv:UnspecifiedMatching +obo:GARD_4709 Richieri Costa-da Silva syndrome skos:exactMatch Orphanet:3101 semapv:UnspecifiedMatching +obo:GARD_4709 Richieri Costa-da Silva syndrome skos:narrowMatch OMIM:255710 semapv:UnspecifiedMatching +obo:GARD_4718 Richieri Costa-Pereira syndrome skos:exactMatch Orphanet:3102 semapv:UnspecifiedMatching +obo:GARD_4718 Richieri Costa-Pereira syndrome skos:narrowMatch OMIM:268305 semapv:UnspecifiedMatching +obo:GARD_4721 Isolated right ventricular hypoplasia skos:exactMatch Orphanet:439 semapv:UnspecifiedMatching +obo:GARD_4721 Isolated right ventricular hypoplasia skos:narrowMatch OMIM:277200 semapv:UnspecifiedMatching +obo:GARD_4722 8q22.1 microdeletion syndrome skos:exactMatch Orphanet:178303 semapv:UnspecifiedMatching +obo:GARD_4722 8q22.1 microdeletion syndrome skos:narrowMatch OMIM:608156 semapv:UnspecifiedMatching +obo:GARD_4723 Rigid spine syndrome skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching +obo:GARD_4723 Rigid spine syndrome skos:narrowMatch OMIM:602771 semapv:UnspecifiedMatching +obo:GARD_4724 Ring chromosome 17 syndrome skos:exactMatch Orphanet:1441 semapv:UnspecifiedMatching +obo:GARD_4729 Robin sequence-oligodactyly syndrome skos:exactMatch Orphanet:3104 semapv:UnspecifiedMatching +obo:GARD_4729 Robin sequence-oligodactyly syndrome skos:narrowMatch OMIM:172880 semapv:UnspecifiedMatching +obo:GARD_4730 Robinow-sorauf syndrome skos:broadMatch Orphanet:794 semapv:UnspecifiedMatching +obo:GARD_4730 Robinow-sorauf syndrome skos:exactMatch OMIM:180750 semapv:UnspecifiedMatching +obo:GARD_4732 Autosomal dominant deafness-onychodystrophy syndrome skos:exactMatch Orphanet:79499 semapv:UnspecifiedMatching +obo:GARD_4732 Autosomal dominant deafness-onychodystrophy syndrome skos:narrowMatch OMIM:124480 semapv:UnspecifiedMatching +obo:GARD_4733 Roch-Leri mesosomatous lipomatosis skos:exactMatch Orphanet:529 semapv:UnspecifiedMatching +obo:GARD_4737 Mayer-Rokitansky-Küster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 semapv:UnspecifiedMatching +obo:GARD_4737 Mayer-Rokitansky-Küster-Hauser syndrome type 1 skos:narrowMatch OMIM:277000 semapv:UnspecifiedMatching +obo:GARD_4738 Rombo syndrome skos:exactMatch Orphanet:3110 semapv:UnspecifiedMatching +obo:GARD_4738 Rombo syndrome skos:narrowMatch OMIM:180730 semapv:UnspecifiedMatching +obo:GARD_4740 Ulna metaphyseal dysplasia syndrome skos:exactMatch Orphanet:1837 semapv:UnspecifiedMatching +obo:GARD_4740 Ulna metaphyseal dysplasia syndrome skos:narrowMatch OMIM:191420 semapv:UnspecifiedMatching +obo:GARD_4741 Roussy-Lévy syndrome skos:exactMatch Orphanet:3115 semapv:UnspecifiedMatching +obo:GARD_4741 Roussy-Lévy syndrome skos:narrowMatch OMIM:180800 semapv:UnspecifiedMatching +obo:GARD_4744 Congenital rubella syndrome skos:exactMatch Orphanet:290 semapv:UnspecifiedMatching +obo:GARD_4748 Ruvalcaba syndrome skos:exactMatch Orphanet:3121 semapv:UnspecifiedMatching +obo:GARD_4748 Ruvalcaba syndrome skos:narrowMatch OMIM:180870 semapv:UnspecifiedMatching +obo:GARD_475 Acquired prothrombin deficiency skos:exactMatch Orphanet:26348 semapv:UnspecifiedMatching +obo:GARD_4752 Kousseff syndrome skos:exactMatch Orphanet:2351 semapv:UnspecifiedMatching +obo:GARD_4754 Salla disease skos:exactMatch Orphanet:309334 semapv:UnspecifiedMatching +obo:GARD_4754 Salla disease skos:narrowMatch OMIM:604369 semapv:UnspecifiedMatching +obo:GARD_476 Acquired ichthyosis skos:exactMatch Orphanet:454 semapv:UnspecifiedMatching +obo:GARD_4767 Benign schwannoma skos:exactMatch Orphanet:252164 semapv:UnspecifiedMatching +obo:GARD_4768 Schwannomatosis skos:exactMatch Orphanet:93921 semapv:UnspecifiedMatching +obo:GARD_4768 Schwannomatosis skos:narrowMatch OMIM:162091 semapv:UnspecifiedMatching +obo:GARD_4768 Schwannomatosis skos:narrowMatch OMIM:162260 semapv:UnspecifiedMatching +obo:GARD_4768 Schwannomatosis skos:narrowMatch OMIM:615670 semapv:UnspecifiedMatching +obo:GARD_4769 Congenital muscular dystrophy, Ullrich type skos:exactMatch Orphanet:75840 semapv:UnspecifiedMatching +obo:GARD_4769 Congenital muscular dystrophy, Ullrich type skos:narrowMatch OMIM:254090 semapv:UnspecifiedMatching +obo:GARD_4769 Congenital muscular dystrophy, Ullrich type skos:narrowMatch OMIM:616470 semapv:UnspecifiedMatching +obo:GARD_4771 Sclerosteosis skos:exactMatch Orphanet:3152 semapv:UnspecifiedMatching +obo:GARD_4771 Sclerosteosis skos:narrowMatch OMIM:269500 semapv:UnspecifiedMatching +obo:GARD_4771 Sclerosteosis skos:narrowMatch OMIM:614305 semapv:UnspecifiedMatching +obo:GARD_4774 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:exactMatch Orphanet:832 semapv:UnspecifiedMatching +obo:GARD_4774 Succinyl-CoA:3-oxoacid CoA transferase deficiency skos:narrowMatch OMIM:245050 semapv:UnspecifiedMatching +obo:GARD_4775 Aarskog-Scott syndrome skos:exactMatch Orphanet:915 semapv:UnspecifiedMatching +obo:GARD_4775 Aarskog-Scott syndrome skos:narrowMatch OMIM:100050 semapv:UnspecifiedMatching +obo:GARD_4775 Aarskog-Scott syndrome skos:narrowMatch OMIM:305400 semapv:UnspecifiedMatching +obo:GARD_4776 Craniodigital-intellectual disability syndrome skos:exactMatch Orphanet:1514 semapv:UnspecifiedMatching +obo:GARD_4777 Scott syndrome skos:exactMatch Orphanet:806 semapv:UnspecifiedMatching +obo:GARD_4777 Scott syndrome skos:narrowMatch OMIM:262890 semapv:UnspecifiedMatching +obo:GARD_4778 Facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch Orphanet:1778 semapv:UnspecifiedMatching +obo:GARD_4792 Testicular seminomatous germ cell tumor skos:exactMatch Orphanet:842 semapv:UnspecifiedMatching +obo:GARD_4792 Testicular seminomatous germ cell tumor skos:narrowMatch OMIM:273300 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:220110 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619046 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619048 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619051 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619052 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619053 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619054 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619055 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619058 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619059 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619060 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619061 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619062 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619063 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619064 semapv:UnspecifiedMatching +obo:GARD_48 Isolated cytochrome C oxidase deficiency skos:narrowMatch OMIM:619355 semapv:UnspecifiedMatching +obo:GARD_480 Acro-renal-mandibular syndrome skos:exactMatch Orphanet:958 semapv:UnspecifiedMatching +obo:GARD_480 Acro-renal-mandibular syndrome skos:narrowMatch OMIM:200980 semapv:UnspecifiedMatching +obo:GARD_4815 Spontaneous periodic hypothermia skos:exactMatch Orphanet:29822 semapv:UnspecifiedMatching +obo:GARD_4818 Shigellosis skos:exactMatch Orphanet:810 semapv:UnspecifiedMatching +obo:GARD_4822 Short chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26792 semapv:UnspecifiedMatching +obo:GARD_4822 Short chain acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:201470 semapv:UnspecifiedMatching +obo:GARD_4832 Short rib-polydactyly syndrome, Beemer-Langer type skos:exactMatch Orphanet:93268 semapv:UnspecifiedMatching +obo:GARD_4832 Short rib-polydactyly syndrome, Beemer-Langer type skos:narrowMatch OMIM:269860 semapv:UnspecifiedMatching +obo:GARD_4833 Short rib-polydactyly syndrome, Majewski type skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching +obo:GARD_4833 Short rib-polydactyly syndrome, Majewski type skos:narrowMatch OMIM:263520 semapv:UnspecifiedMatching +obo:GARD_4833 Short rib-polydactyly syndrome, Majewski type skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +obo:GARD_4834 Short rib-polydactyly syndrome, Saldino-Noonan type skos:exactMatch Orphanet:93270 semapv:UnspecifiedMatching +obo:GARD_4834 Short rib-polydactyly syndrome, Saldino-Noonan type skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +obo:GARD_4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching +obo:GARD_4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:613091 semapv:UnspecifiedMatching +obo:GARD_4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:614091 semapv:UnspecifiedMatching +obo:GARD_4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:615503 semapv:UnspecifiedMatching +obo:GARD_4835 Short rib-polydactyly syndrome, Verma-Naumoff type skos:narrowMatch OMIM:615633 semapv:UnspecifiedMatching +obo:GARD_4838 Short stature, Brussels type skos:exactMatch Orphanet:2867 semapv:UnspecifiedMatching +obo:GARD_4838 Short stature, Brussels type skos:narrowMatch OMIM:601350 semapv:UnspecifiedMatching +obo:GARD_484 Acrofrontofacionasal dysostosis skos:exactMatch Orphanet:1784 semapv:UnspecifiedMatching +obo:GARD_484 Acrofrontofacionasal dysostosis skos:narrowMatch OMIM:201180 semapv:UnspecifiedMatching +obo:GARD_4841 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch Orphanet:2866 semapv:UnspecifiedMatching +obo:GARD_4856 Short stature-wormian bones-dextrocardia syndrome skos:exactMatch Orphanet:2863 semapv:UnspecifiedMatching +obo:GARD_4856 Short stature-wormian bones-dextrocardia syndrome skos:narrowMatch OMIM:185120 semapv:UnspecifiedMatching +obo:GARD_4861 Shprintzen-Goldberg syndrome skos:exactMatch Orphanet:2462 semapv:UnspecifiedMatching +obo:GARD_4861 Shprintzen-Goldberg syndrome skos:narrowMatch OMIM:182212 semapv:UnspecifiedMatching +obo:GARD_4863 Shwachman-Diamond syndrome skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching +obo:GARD_4863 Shwachman-Diamond syndrome skos:narrowMatch OMIM:260400 semapv:UnspecifiedMatching +obo:GARD_4863 Shwachman-Diamond syndrome skos:narrowMatch OMIM:617941 semapv:UnspecifiedMatching +obo:GARD_4865 Sialuria skos:exactMatch Orphanet:3166 semapv:UnspecifiedMatching +obo:GARD_4865 Sialuria skos:narrowMatch OMIM:269921 semapv:UnspecifiedMatching +obo:GARD_4867 Siegler-Brewer-Carey syndrome skos:exactMatch Orphanet:3167 semapv:UnspecifiedMatching +obo:GARD_4869 Sillence syndrome skos:exactMatch Orphanet:3168 semapv:UnspecifiedMatching +obo:GARD_4869 Sillence syndrome skos:narrowMatch OMIM:113450 semapv:UnspecifiedMatching +obo:GARD_4870 Silver-Russell syndrome skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching +obo:GARD_4870 Silver-Russell syndrome skos:narrowMatch OMIM:180860 semapv:UnspecifiedMatching +obo:GARD_4870 Silver-Russell syndrome skos:narrowMatch OMIM:312780 semapv:UnspecifiedMatching +obo:GARD_4870 Silver-Russell syndrome skos:narrowMatch OMIM:616489 semapv:UnspecifiedMatching +obo:GARD_4873 Flat face-microstomia-ear anomaly syndrome skos:exactMatch Orphanet:1968 semapv:UnspecifiedMatching +obo:GARD_4873 Flat face-microstomia-ear anomaly syndrome skos:narrowMatch OMIM:182150 semapv:UnspecifiedMatching +obo:GARD_4877 Solitary median maxillary central incisor skos:broadMatch Orphanet:280200 semapv:UnspecifiedMatching +obo:GARD_4877 Solitary median maxillary central incisor skos:exactMatch OMIM:147250 semapv:UnspecifiedMatching +obo:GARD_4879 Progressive familial heart block, type ii skos:broadMatch Orphanet:871 semapv:UnspecifiedMatching +obo:GARD_4879 Progressive familial heart block, type ii skos:exactMatch OMIM:140400 semapv:UnspecifiedMatching +obo:GARD_4880 Sinus node disease and myopia skos:broadMatch Orphanet:166282 semapv:UnspecifiedMatching +obo:GARD_4880 Sinus node disease and myopia skos:exactMatch OMIM:182190 semapv:UnspecifiedMatching +obo:GARD_4881 Multiple endocrine neoplasia type 2A skos:exactMatch Orphanet:247698 semapv:UnspecifiedMatching +obo:GARD_4881 Multiple endocrine neoplasia type 2A skos:narrowMatch OMIM:171400 semapv:UnspecifiedMatching +obo:GARD_4883 Situs inversus totalis skos:exactMatch Orphanet:101063 semapv:UnspecifiedMatching +obo:GARD_4886 Mononen-Karnes-Senac syndrome skos:exactMatch Orphanet:2565 semapv:UnspecifiedMatching +obo:GARD_4886 Mononen-Karnes-Senac syndrome skos:narrowMatch OMIM:301940 semapv:UnspecifiedMatching +obo:GARD_4891 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:exactMatch Orphanet:83629 semapv:UnspecifiedMatching +obo:GARD_4891 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome skos:narrowMatch OMIM:300232 semapv:UnspecifiedMatching +obo:GARD_4898 Soft tissue sarcoma skos:exactMatch Orphanet:3394 semapv:UnspecifiedMatching +obo:GARD_4899 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch Orphanet:2234 semapv:UnspecifiedMatching +obo:GARD_4899 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:narrowMatch OMIM:307500 semapv:UnspecifiedMatching +obo:GARD_49 De Barsy syndrome skos:exactMatch Orphanet:2962 semapv:UnspecifiedMatching +obo:GARD_49 De Barsy syndrome skos:narrowMatch OMIM:219150 semapv:UnspecifiedMatching +obo:GARD_49 De Barsy syndrome skos:narrowMatch OMIM:614438 semapv:UnspecifiedMatching +obo:GARD_4900 Somatostatinoma skos:exactMatch Orphanet:97283 semapv:UnspecifiedMatching +obo:GARD_4905 Congenital heart defect-round face-developmental delay syndrome skos:exactMatch Orphanet:1355 semapv:UnspecifiedMatching +obo:GARD_4905 Congenital heart defect-round face-developmental delay syndrome skos:narrowMatch OMIM:270460 semapv:UnspecifiedMatching +obo:GARD_491 Acrodysplasia scoliosis skos:exactMatch Orphanet:2956 semapv:UnspecifiedMatching +obo:GARD_4910 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:exactMatch Orphanet:98 semapv:UnspecifiedMatching +obo:GARD_4910 Autosomal recessive spastic ataxia of Charlevoix-Saguenay skos:narrowMatch OMIM:270550 semapv:UnspecifiedMatching +obo:GARD_4914 Infantile-onset ascending hereditary spastic paralysis skos:exactMatch Orphanet:293168 semapv:UnspecifiedMatching +obo:GARD_4914 Infantile-onset ascending hereditary spastic paralysis skos:narrowMatch OMIM:607225 semapv:UnspecifiedMatching +obo:GARD_4918 Spastic paraplegia-precocious puberty syndrome skos:exactMatch Orphanet:2826 semapv:UnspecifiedMatching +obo:GARD_4918 Spastic paraplegia-precocious puberty syndrome skos:narrowMatch OMIM:182820 semapv:UnspecifiedMatching +obo:GARD_4919 Autosomal recessive spastic paraplegia type 11 skos:exactMatch Orphanet:2822 semapv:UnspecifiedMatching +obo:GARD_4919 Autosomal recessive spastic paraplegia type 11 skos:narrowMatch OMIM:604360 semapv:UnspecifiedMatching +obo:GARD_4921 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch Orphanet:2821 semapv:UnspecifiedMatching +obo:GARD_4921 Spastic paraplegia-neuropathy-poikiloderma syndrome skos:narrowMatch OMIM:182815 semapv:UnspecifiedMatching +obo:GARD_4922 Autosomal recessive spastic paraplegia type 18 skos:exactMatch Orphanet:209951 semapv:UnspecifiedMatching +obo:GARD_4922 Autosomal recessive spastic paraplegia type 18 skos:narrowMatch OMIM:611225 semapv:UnspecifiedMatching +obo:GARD_4923 Spastic paraplegia type 2 skos:exactMatch Orphanet:99015 semapv:UnspecifiedMatching +obo:GARD_4923 Spastic paraplegia type 2 skos:narrowMatch OMIM:312920 semapv:UnspecifiedMatching +obo:GARD_4924 Autosomal recessive spastic paraplegia type 39 skos:exactMatch Orphanet:139480 semapv:UnspecifiedMatching +obo:GARD_4924 Autosomal recessive spastic paraplegia type 39 skos:narrowMatch OMIM:612020 semapv:UnspecifiedMatching +obo:GARD_4925 Autosomal dominant spastic paraplegia type 4 skos:exactMatch Orphanet:100985 semapv:UnspecifiedMatching +obo:GARD_4925 Autosomal dominant spastic paraplegia type 4 skos:narrowMatch OMIM:182601 semapv:UnspecifiedMatching +obo:GARD_4926 Autosomal recessive spastic paraplegia type 5A skos:exactMatch Orphanet:100986 semapv:UnspecifiedMatching +obo:GARD_4926 Autosomal recessive spastic paraplegia type 5A skos:narrowMatch OMIM:270800 semapv:UnspecifiedMatching +obo:GARD_4927 Spastic paraplegia type 7 skos:exactMatch Orphanet:99013 semapv:UnspecifiedMatching +obo:GARD_4927 Spastic paraplegia type 7 skos:narrowMatch OMIM:607259 semapv:UnspecifiedMatching +obo:GARD_4928 Autosomal dominant spastic paraplegia type 6 skos:exactMatch Orphanet:100988 semapv:UnspecifiedMatching +obo:GARD_4928 Autosomal dominant spastic paraplegia type 6 skos:narrowMatch OMIM:600363 semapv:UnspecifiedMatching +obo:GARD_4931 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch Orphanet:2818 semapv:UnspecifiedMatching +obo:GARD_4931 Spastic paraplegia-glaucoma-intellectual disability syndrome skos:narrowMatch OMIM:270850 semapv:UnspecifiedMatching +obo:GARD_4932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch Orphanet:3011 semapv:UnspecifiedMatching +obo:GARD_4932 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:narrowMatch OMIM:270950 semapv:UnspecifiedMatching +obo:GARD_4936 Weill-Marchesani syndrome skos:exactMatch Orphanet:3449 semapv:UnspecifiedMatching +obo:GARD_4936 Weill-Marchesani syndrome skos:narrowMatch OMIM:277600 semapv:UnspecifiedMatching +obo:GARD_4936 Weill-Marchesani syndrome skos:narrowMatch OMIM:608328 semapv:UnspecifiedMatching +obo:GARD_4936 Weill-Marchesani syndrome skos:narrowMatch OMIM:614819 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204200 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:204500 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:600143 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:609055 semapv:UnspecifiedMatching +obo:GARD_4938 Juvenile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:610127 semapv:UnspecifiedMatching +obo:GARD_494 Acrofacial dysostosis, Catania type skos:exactMatch Orphanet:1786 semapv:UnspecifiedMatching +obo:GARD_494 Acrofacial dysostosis, Catania type skos:narrowMatch OMIM:101805 semapv:UnspecifiedMatching +obo:GARD_4940 Spina bifida-hypospadias syndrome skos:exactMatch Orphanet:3176 semapv:UnspecifiedMatching +obo:GARD_4942 Spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch Orphanet:1217 semapv:UnspecifiedMatching +obo:GARD_4945 Proximal spinal muscular atrophy type 2 skos:exactMatch Orphanet:83418 semapv:UnspecifiedMatching +obo:GARD_4945 Proximal spinal muscular atrophy type 2 skos:narrowMatch OMIM:253550 semapv:UnspecifiedMatching +obo:GARD_4947 Spinal muscular atrophy with congenital bone fractures 1 skos:broadMatch Orphanet:486811 semapv:UnspecifiedMatching +obo:GARD_4947 Spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch OMIM:616866 semapv:UnspecifiedMatching +obo:GARD_4950 Spinocerebellar ataxia type 30 skos:exactMatch Orphanet:211017 semapv:UnspecifiedMatching +obo:GARD_4950 Spinocerebellar ataxia type 30 skos:narrowMatch OMIM:613371 semapv:UnspecifiedMatching +obo:GARD_4952 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:exactMatch Orphanet:95434 semapv:UnspecifiedMatching +obo:GARD_4952 Autosomal recessive cerebellar ataxia-movement disorder syndrome skos:narrowMatch OMIM:607317 semapv:UnspecifiedMatching +obo:GARD_4953 Spinocerebellar ataxia type 5 skos:exactMatch Orphanet:98766 semapv:UnspecifiedMatching +obo:GARD_4953 Spinocerebellar ataxia type 5 skos:narrowMatch OMIM:600224 semapv:UnspecifiedMatching +obo:GARD_4954 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch Orphanet:284332 semapv:UnspecifiedMatching +obo:GARD_4954 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:narrowMatch OMIM:608029 semapv:UnspecifiedMatching +obo:GARD_4955 Spinocerebellar ataxia type 7 skos:exactMatch Orphanet:94147 semapv:UnspecifiedMatching +obo:GARD_4955 Spinocerebellar ataxia type 7 skos:narrowMatch OMIM:164500 semapv:UnspecifiedMatching +obo:GARD_4956 Spinocerebellar ataxia type 8 skos:exactMatch Orphanet:98760 semapv:UnspecifiedMatching +obo:GARD_4956 Spinocerebellar ataxia type 8 skos:narrowMatch OMIM:608768 semapv:UnspecifiedMatching +obo:GARD_4958 Spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch Orphanet:1185 semapv:UnspecifiedMatching +obo:GARD_4958 Spinocerebellar ataxia-dysmorphism syndrome skos:narrowMatch OMIM:271270 semapv:UnspecifiedMatching +obo:GARD_496 Acrofacial dysostosis, Rodríguez type skos:exactMatch Orphanet:1788 semapv:UnspecifiedMatching +obo:GARD_496 Acrofacial dysostosis, Rodríguez type skos:narrowMatch OMIM:201170 semapv:UnspecifiedMatching +obo:GARD_4963 Splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch Orphanet:2063 semapv:UnspecifiedMatching +obo:GARD_4963 Splenogonadal fusion-limb defects-micrognathia syndrome skos:narrowMatch OMIM:183300 semapv:UnspecifiedMatching +obo:GARD_4967 Karsch-Neugebauer syndrome skos:exactMatch Orphanet:2329 semapv:UnspecifiedMatching +obo:GARD_4967 Karsch-Neugebauer syndrome skos:narrowMatch OMIM:183800 semapv:UnspecifiedMatching +obo:GARD_4969 Czeizel-Losonci syndrome skos:exactMatch Orphanet:2437 semapv:UnspecifiedMatching +obo:GARD_4969 Czeizel-Losonci syndrome skos:narrowMatch OMIM:183802 semapv:UnspecifiedMatching +obo:GARD_497 Acrofacial dysostosis, Weyers type skos:exactMatch Orphanet:952 semapv:UnspecifiedMatching +obo:GARD_497 Acrofacial dysostosis, Weyers type skos:narrowMatch OMIM:193530 semapv:UnspecifiedMatching +obo:GARD_4970 SPONASTRIME dysplasia skos:exactMatch Orphanet:93357 semapv:UnspecifiedMatching +obo:GARD_4970 SPONASTRIME dysplasia skos:narrowMatch OMIM:271510 semapv:UnspecifiedMatching +obo:GARD_4972 Spondylocamptodactyly syndrome skos:exactMatch Orphanet:3180 semapv:UnspecifiedMatching +obo:GARD_4972 Spondylocamptodactyly syndrome skos:narrowMatch OMIM:600000 semapv:UnspecifiedMatching +obo:GARD_4973 Spondylocostal dysostosis 3, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +obo:GARD_4973 Spondylocostal dysostosis 3, autosomal recessive skos:exactMatch OMIM:609813 semapv:UnspecifiedMatching +obo:GARD_4974 Spondylocarpotarsal synostosis skos:exactMatch Orphanet:3275 semapv:UnspecifiedMatching +obo:GARD_4974 Spondylocarpotarsal synostosis skos:narrowMatch OMIM:272460 semapv:UnspecifiedMatching +obo:GARD_4976 Spondylocostal dysostosis 4, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +obo:GARD_4976 Spondylocostal dysostosis 4, autosomal recessive skos:exactMatch OMIM:613686 semapv:UnspecifiedMatching +obo:GARD_4977 Brachyolmia type 1, toledo type skos:broadMatch Orphanet:448242 semapv:UnspecifiedMatching +obo:GARD_4977 Brachyolmia type 1, toledo type skos:exactMatch OMIM:271630 semapv:UnspecifiedMatching +obo:GARD_4978 Spondyloenchondrodysplasia skos:exactMatch Orphanet:1855 semapv:UnspecifiedMatching +obo:GARD_4979 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:93349 semapv:UnspecifiedMatching +obo:GARD_4979 X-linked spondyloepimetaphyseal dysplasia skos:narrowMatch OMIM:300106 semapv:UnspecifiedMatching +obo:GARD_498 Nager syndrome skos:exactMatch Orphanet:245 semapv:UnspecifiedMatching +obo:GARD_498 Nager syndrome skos:narrowMatch OMIM:154400 semapv:UnspecifiedMatching +obo:GARD_4980 Spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch Orphanet:93352 semapv:UnspecifiedMatching +obo:GARD_4980 Spondyloepimetaphyseal dysplasia, Shohat type skos:narrowMatch OMIM:602557 semapv:UnspecifiedMatching +obo:GARD_4982 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch Orphanet:93359 semapv:UnspecifiedMatching +obo:GARD_4982 Spondyloepimetaphyseal dysplasia with joint laxity skos:narrowMatch OMIM:271640 semapv:UnspecifiedMatching +obo:GARD_4982 Spondyloepimetaphyseal dysplasia with joint laxity skos:narrowMatch OMIM:618395 semapv:UnspecifiedMatching +obo:GARD_4984 Schimke immuno-osseous dysplasia skos:exactMatch Orphanet:1830 semapv:UnspecifiedMatching +obo:GARD_4984 Schimke immuno-osseous dysplasia skos:narrowMatch OMIM:242900 semapv:UnspecifiedMatching +obo:GARD_4985 Spondyloepiphyseal dysplasia tarda, x-linked skos:broadMatch Orphanet:93284 semapv:UnspecifiedMatching +obo:GARD_4985 Spondyloepiphyseal dysplasia tarda, x-linked skos:exactMatch OMIM:313400 semapv:UnspecifiedMatching +obo:GARD_4987 Spondyloepiphyseal dysplasia congenita skos:exactMatch Orphanet:94068 semapv:UnspecifiedMatching +obo:GARD_4987 Spondyloepiphyseal dysplasia congenita skos:narrowMatch OMIM:183900 semapv:UnspecifiedMatching +obo:GARD_499 Acrofacial dysostosis, Palagonia type skos:exactMatch Orphanet:1787 semapv:UnspecifiedMatching +obo:GARD_499 Acrofacial dysostosis, Palagonia type skos:narrowMatch OMIM:601829 semapv:UnspecifiedMatching +obo:GARD_4991 Spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch Orphanet:93315 semapv:UnspecifiedMatching +obo:GARD_4991 Spondylometaphyseal dysplasia, 'corner fracture' type skos:narrowMatch OMIM:184255 semapv:UnspecifiedMatching +obo:GARD_4993 Spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch Orphanet:93317 semapv:UnspecifiedMatching +obo:GARD_4993 Spondylometaphyseal dysplasia, Sedaghatian type skos:narrowMatch OMIM:250220 semapv:UnspecifiedMatching +obo:GARD_4994 Spondyloperipheral dysplasia-short ulna syndrome skos:exactMatch Orphanet:1856 semapv:UnspecifiedMatching +obo:GARD_4994 Spondyloperipheral dysplasia-short ulna syndrome skos:narrowMatch OMIM:271700 semapv:UnspecifiedMatching +obo:GARD_4997 Familial spontaneous pneumothorax skos:exactMatch Orphanet:2903 semapv:UnspecifiedMatching +obo:GARD_4997 Familial spontaneous pneumothorax skos:narrowMatch OMIM:173600 semapv:UnspecifiedMatching +obo:GARD_5 Abetalipoproteinemia skos:exactMatch Orphanet:14 semapv:UnspecifiedMatching +obo:GARD_5 Abetalipoproteinemia skos:narrowMatch OMIM:200100 semapv:UnspecifiedMatching +obo:GARD_5 Abetalipoproteinemia skos:narrowMatch OMIM:605019 semapv:UnspecifiedMatching +obo:GARD_5 Abetalipoproteinemia skos:narrowMatch OMIM:615558 semapv:UnspecifiedMatching +obo:GARD_5003 Sebocystomatosis skos:exactMatch Orphanet:841 semapv:UnspecifiedMatching +obo:GARD_5003 Sebocystomatosis skos:narrowMatch OMIM:184500 semapv:UnspecifiedMatching +obo:GARD_5004 Steatocystoma multiplex-natal teeth syndrome skos:exactMatch Orphanet:3184 semapv:UnspecifiedMatching +obo:GARD_5004 Steatocystoma multiplex-natal teeth syndrome skos:narrowMatch OMIM:184510 semapv:UnspecifiedMatching +obo:GARD_5012 Sternal cleft skos:exactMatch Orphanet:2017 semapv:UnspecifiedMatching +obo:GARD_5015 Steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch Orphanet:3196 semapv:UnspecifiedMatching +obo:GARD_5018 Stickler syndrome type 1 skos:exactMatch Orphanet:90653 semapv:UnspecifiedMatching +obo:GARD_5018 Stickler syndrome type 1 skos:narrowMatch OMIM:108300 semapv:UnspecifiedMatching +obo:GARD_5018 Stickler syndrome type 1 skos:narrowMatch OMIM:609508 semapv:UnspecifiedMatching +obo:GARD_5020 Stickler syndrome type 2 skos:exactMatch Orphanet:90654 semapv:UnspecifiedMatching +obo:GARD_5020 Stickler syndrome type 2 skos:narrowMatch OMIM:604841 semapv:UnspecifiedMatching +obo:GARD_5021 Autosomal dominant otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:166100 semapv:UnspecifiedMatching +obo:GARD_5021 Autosomal dominant otospondylomegaepiphyseal dysplasia skos:narrowMatch OMIM:184840 semapv:UnspecifiedMatching +obo:GARD_5023 Stiff person spectrum disorder skos:exactMatch Orphanet:3198 semapv:UnspecifiedMatching +obo:GARD_5023 Stiff person spectrum disorder skos:narrowMatch OMIM:184850 semapv:UnspecifiedMatching +obo:GARD_5025 Stiff skin syndrome skos:exactMatch Orphanet:2833 semapv:UnspecifiedMatching +obo:GARD_5025 Stiff skin syndrome skos:narrowMatch OMIM:184900 semapv:UnspecifiedMatching +obo:GARD_5025 Stiff skin syndrome skos:narrowMatch OMIM:228020 semapv:UnspecifiedMatching +obo:GARD_5026 Stimmler syndrome skos:exactMatch Orphanet:3199 semapv:UnspecifiedMatching +obo:GARD_5026 Stimmler syndrome skos:narrowMatch OMIM:202900 semapv:UnspecifiedMatching +obo:GARD_5027 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch Orphanet:2972 semapv:UnspecifiedMatching +obo:GARD_5027 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:narrowMatch OMIM:273050 semapv:UnspecifiedMatching +obo:GARD_5029 Arthrogryposis-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3200 semapv:UnspecifiedMatching +obo:GARD_5029 Arthrogryposis-ectodermal dysplasia syndrome skos:narrowMatch OMIM:601701 semapv:UnspecifiedMatching +obo:GARD_5034 Alpha delta granule deficiency skos:exactMatch Orphanet:734 semapv:UnspecifiedMatching +obo:GARD_5034 Alpha delta granule deficiency skos:narrowMatch OMIM:185050 semapv:UnspecifiedMatching +obo:GARD_5036 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:exactMatch Orphanet:1277 semapv:UnspecifiedMatching +obo:GARD_504 Spondylometaphyseal dysplasia, Schmidt type skos:exactMatch Orphanet:93316 semapv:UnspecifiedMatching +obo:GARD_504 Spondylometaphyseal dysplasia, Schmidt type skos:narrowMatch OMIM:184253 semapv:UnspecifiedMatching +obo:GARD_5040 Infantile bilateral striatal necrosis skos:exactMatch Orphanet:1576 semapv:UnspecifiedMatching +obo:GARD_5040 Infantile bilateral striatal necrosis skos:narrowMatch OMIM:271930 semapv:UnspecifiedMatching +obo:GARD_5040 Infantile bilateral striatal necrosis skos:narrowMatch OMIM:500003 semapv:UnspecifiedMatching +obo:GARD_5041 Autosomal dominant spastic paraplegia type 3 skos:exactMatch Orphanet:100984 semapv:UnspecifiedMatching +obo:GARD_5041 Autosomal dominant spastic paraplegia type 3 skos:narrowMatch OMIM:182600 semapv:UnspecifiedMatching +obo:GARD_5045 Stüve-Wiedemann syndrome skos:exactMatch Orphanet:3206 semapv:UnspecifiedMatching +obo:GARD_5045 Stüve-Wiedemann syndrome skos:narrowMatch OMIM:601559 semapv:UnspecifiedMatching +obo:GARD_5049 Classic lissencephaly skos:exactMatch Orphanet:102009 semapv:UnspecifiedMatching +obo:GARD_5050 Subependymal nodular heterotopia skos:exactMatch Orphanet:101030 semapv:UnspecifiedMatching +obo:GARD_5051 Subpulmonary stenosis skos:exactMatch Orphanet:3190 semapv:UnspecifiedMatching +obo:GARD_5053 Isolated succinate-CoQ reductase deficiency skos:exactMatch Orphanet:3208 semapv:UnspecifiedMatching +obo:GARD_5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:252011 semapv:UnspecifiedMatching +obo:GARD_5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619166 semapv:UnspecifiedMatching +obo:GARD_5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619167 semapv:UnspecifiedMatching +obo:GARD_5053 Isolated succinate-CoQ reductase deficiency skos:narrowMatch OMIM:619224 semapv:UnspecifiedMatching +obo:GARD_5058 Sugarman brachydactyly skos:exactMatch Orphanet:498602 semapv:UnspecifiedMatching +obo:GARD_5058 Sugarman brachydactyly skos:narrowMatch OMIM:272150 semapv:UnspecifiedMatching +obo:GARD_506 Acromesomelic dysplasia, Hunter-Thompson type skos:exactMatch Orphanet:968 semapv:UnspecifiedMatching +obo:GARD_506 Acromesomelic dysplasia, Hunter-Thompson type skos:narrowMatch OMIM:201250 semapv:UnspecifiedMatching +obo:GARD_5061 Multiple sulfatase deficiency skos:exactMatch Orphanet:585 semapv:UnspecifiedMatching +obo:GARD_5061 Multiple sulfatase deficiency skos:narrowMatch OMIM:272200 semapv:UnspecifiedMatching +obo:GARD_5062 Isolated sulfite oxidase deficiency skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching +obo:GARD_5062 Isolated sulfite oxidase deficiency skos:narrowMatch OMIM:272300 semapv:UnspecifiedMatching +obo:GARD_5066 Microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch Orphanet:85275 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:154230 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:233420 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:300018 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:400044 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:612965 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:613080 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:613762 semapv:UnspecifiedMatching +obo:GARD_5068 46,XY complete gonadal dysgenesis skos:narrowMatch OMIM:616425 semapv:UnspecifiedMatching +obo:GARD_507 Acromesomelic dysplasia, Maroteaux type skos:exactMatch Orphanet:40 semapv:UnspecifiedMatching +obo:GARD_507 Acromesomelic dysplasia, Maroteaux type skos:narrowMatch OMIM:602875 semapv:UnspecifiedMatching +obo:GARD_5070 Symmetrical thalamic calcifications skos:exactMatch Orphanet:1314 semapv:UnspecifiedMatching +obo:GARD_5074 Distal symphalangism skos:exactMatch Orphanet:3248 semapv:UnspecifiedMatching +obo:GARD_5074 Distal symphalangism skos:narrowMatch OMIM:185700 semapv:UnspecifiedMatching +obo:GARD_5077 Symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 semapv:UnspecifiedMatching +obo:GARD_5077 Symphalangism with multiple anomalies of hands and feet skos:narrowMatch OMIM:185750 semapv:UnspecifiedMatching +obo:GARD_508 Hajdu-Cheney syndrome skos:exactMatch Orphanet:955 semapv:UnspecifiedMatching +obo:GARD_508 Hajdu-Cheney syndrome skos:narrowMatch OMIM:102400 semapv:UnspecifiedMatching +obo:GARD_508 Hajdu-Cheney syndrome skos:narrowMatch OMIM:102500 semapv:UnspecifiedMatching +obo:GARD_5081 Syndactyly type 1 skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching +obo:GARD_5081 Syndactyly type 1 skos:narrowMatch OMIM:185900 semapv:UnspecifiedMatching +obo:GARD_5081 Syndactyly type 1 skos:narrowMatch OMIM:609815 semapv:UnspecifiedMatching +obo:GARD_5084 Cenani-Lenz syndrome skos:exactMatch Orphanet:3258 semapv:UnspecifiedMatching +obo:GARD_5084 Cenani-Lenz syndrome skos:narrowMatch OMIM:212780 semapv:UnspecifiedMatching +obo:GARD_5087 Syndactyly type 2 skos:exactMatch Orphanet:93403 semapv:UnspecifiedMatching +obo:GARD_5087 Syndactyly type 2 skos:narrowMatch OMIM:186000 semapv:UnspecifiedMatching +obo:GARD_5087 Syndactyly type 2 skos:narrowMatch OMIM:608180 semapv:UnspecifiedMatching +obo:GARD_5087 Syndactyly type 2 skos:narrowMatch OMIM:610234 semapv:UnspecifiedMatching +obo:GARD_5088 Syndactyly type 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching +obo:GARD_5088 Syndactyly type 3 skos:narrowMatch OMIM:186100 semapv:UnspecifiedMatching +obo:GARD_5089 Syndactyly type 5 skos:exactMatch Orphanet:93406 semapv:UnspecifiedMatching +obo:GARD_5089 Syndactyly type 5 skos:narrowMatch OMIM:186300 semapv:UnspecifiedMatching +obo:GARD_5090 Syndactyly-polydactyly-ear lobe syndrome skos:exactMatch Orphanet:3259 semapv:UnspecifiedMatching +obo:GARD_5090 Syndactyly-polydactyly-ear lobe syndrome skos:narrowMatch OMIM:186350 semapv:UnspecifiedMatching +obo:GARD_5091 Syngnathia-cleft palate syndrome skos:exactMatch Orphanet:3263 semapv:UnspecifiedMatching +obo:GARD_5092 Dobrow syndrome skos:exactMatch Orphanet:3262 semapv:UnspecifiedMatching +obo:GARD_5100 Syringocystadenoma papilliferum skos:exactMatch Orphanet:840 semapv:UnspecifiedMatching +obo:GARD_5104 Systemic primary carnitine deficiency skos:exactMatch Orphanet:158 semapv:UnspecifiedMatching +obo:GARD_5104 Systemic primary carnitine deficiency skos:narrowMatch OMIM:212140 semapv:UnspecifiedMatching +obo:GARD_5116 Thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 semapv:UnspecifiedMatching +obo:GARD_5116 Thrombocytopenia-absent radius syndrome skos:narrowMatch OMIM:274000 semapv:UnspecifiedMatching +obo:GARD_512 Acropectorovertebral dysplasia skos:exactMatch Orphanet:957 semapv:UnspecifiedMatching +obo:GARD_512 Acropectorovertebral dysplasia skos:narrowMatch OMIM:102510 semapv:UnspecifiedMatching +obo:GARD_5120 Microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch Orphanet:2636 semapv:UnspecifiedMatching +obo:GARD_5120 Microcephalic osteodysplastic primordial dwarfism types I and III skos:narrowMatch OMIM:210710 semapv:UnspecifiedMatching +obo:GARD_5120 Microcephalic osteodysplastic primordial dwarfism types I and III skos:narrowMatch OMIM:210730 semapv:UnspecifiedMatching +obo:GARD_5121 Otopalatodigital syndrome type 1 skos:exactMatch Orphanet:90650 semapv:UnspecifiedMatching +obo:GARD_5121 Otopalatodigital syndrome type 1 skos:narrowMatch OMIM:311300 semapv:UnspecifiedMatching +obo:GARD_5123 Anonychia-microcephaly syndrome skos:exactMatch Orphanet:1094 semapv:UnspecifiedMatching +obo:GARD_5123 Anonychia-microcephaly syndrome skos:narrowMatch OMIM:607214 semapv:UnspecifiedMatching +obo:GARD_5124 Autosomal recessive faciodigitogenital syndrome skos:exactMatch Orphanet:1974 semapv:UnspecifiedMatching +obo:GARD_5124 Autosomal recessive faciodigitogenital syndrome skos:narrowMatch OMIM:227330 semapv:UnspecifiedMatching +obo:GARD_5125 Teebi-Shaltout syndrome skos:exactMatch Orphanet:3291 semapv:UnspecifiedMatching +obo:GARD_5125 Teebi-Shaltout syndrome skos:narrowMatch OMIM:272950 semapv:UnspecifiedMatching +obo:GARD_5126 Trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch Orphanet:3368 semapv:UnspecifiedMatching +obo:GARD_5126 Trigonocephaly-bifid nose-acral anomalies syndrome skos:narrowMatch OMIM:275595 semapv:UnspecifiedMatching +obo:GARD_5128 Tel Hashomer camptodactyly syndrome skos:exactMatch Orphanet:3292 semapv:UnspecifiedMatching +obo:GARD_5128 Tel Hashomer camptodactyly syndrome skos:narrowMatch OMIM:211960 semapv:UnspecifiedMatching +obo:GARD_5133 Piebald trait-neurologic defects syndrome skos:exactMatch Orphanet:2885 semapv:UnspecifiedMatching +obo:GARD_5133 Piebald trait-neurologic defects syndrome skos:narrowMatch OMIM:172850 semapv:UnspecifiedMatching +obo:GARD_5135 Familial temporal lobe epilepsy skos:exactMatch Orphanet:98819 semapv:UnspecifiedMatching +obo:GARD_5135 Familial temporal lobe epilepsy skos:narrowMatch OMIM:608096 semapv:UnspecifiedMatching +obo:GARD_5135 Familial temporal lobe epilepsy skos:narrowMatch OMIM:611631 semapv:UnspecifiedMatching +obo:GARD_5138 Frank-Ter Haar syndrome skos:exactMatch Orphanet:137834 semapv:UnspecifiedMatching +obo:GARD_5138 Frank-Ter Haar syndrome skos:narrowMatch OMIM:249420 semapv:UnspecifiedMatching +obo:GARD_514 Acrorenal syndrome skos:exactMatch Orphanet:971 semapv:UnspecifiedMatching +obo:GARD_514 Acrorenal syndrome skos:narrowMatch OMIM:102520 semapv:UnspecifiedMatching +obo:GARD_514 Acrorenal syndrome skos:narrowMatch OMIM:201310 semapv:UnspecifiedMatching +obo:GARD_5140 Embryonal carcinoma skos:exactMatch Orphanet:180226 semapv:UnspecifiedMatching +obo:GARD_5144 Tetanus skos:exactMatch Orphanet:3299 semapv:UnspecifiedMatching +obo:GARD_5148 Tetra-amelia skos:exactMatch Orphanet:294971 semapv:UnspecifiedMatching +obo:GARD_5151 Tetraploidy skos:exactMatch Orphanet:3305 semapv:UnspecifiedMatching +obo:GARD_5153 Inverted duplicated chromosome 15 syndrome skos:exactMatch Orphanet:3306 semapv:UnspecifiedMatching +obo:GARD_5158 Thakker-Donnai syndrome skos:exactMatch Orphanet:1780 semapv:UnspecifiedMatching +obo:GARD_5158 Thakker-Donnai syndrome skos:narrowMatch OMIM:227255 semapv:UnspecifiedMatching +obo:GARD_5170 Progressive deafness with stapes fixation skos:exactMatch Orphanet:3235 semapv:UnspecifiedMatching +obo:GARD_5170 Progressive deafness with stapes fixation skos:narrowMatch OMIM:601449 semapv:UnspecifiedMatching +obo:GARD_5175 Thomas syndrome skos:exactMatch Orphanet:3316 semapv:UnspecifiedMatching +obo:GARD_5176 X-linked thrombocytopenia with normal platelets skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching +obo:GARD_5176 X-linked thrombocytopenia with normal platelets skos:narrowMatch OMIM:313900 semapv:UnspecifiedMatching +obo:GARD_5177 Hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch Orphanet:2031 semapv:UnspecifiedMatching +obo:GARD_5177 Hepatic fibrosis-renal cysts-intellectual disability syndrome skos:narrowMatch OMIM:213010 semapv:UnspecifiedMatching +obo:GARD_5180 Thoracic dysplasia-hydrocephalus syndrome skos:exactMatch Orphanet:1861 semapv:UnspecifiedMatching +obo:GARD_5180 Thoracic dysplasia-hydrocephalus syndrome skos:narrowMatch OMIM:273730 semapv:UnspecifiedMatching +obo:GARD_5181 Thoraco-abdominal enteric duplication skos:exactMatch Orphanet:1759 semapv:UnspecifiedMatching +obo:GARD_5184 Thoracolaryngopelvic dysplasia skos:exactMatch Orphanet:3317 semapv:UnspecifiedMatching +obo:GARD_5184 Thoracolaryngopelvic dysplasia skos:narrowMatch OMIM:187760 semapv:UnspecifiedMatching +obo:GARD_5184 Thoracolaryngopelvic dysplasia skos:narrowMatch OMIM:187770 semapv:UnspecifiedMatching +obo:GARD_5186 KRT1-related diffuse nonepidermolytic keratoderma skos:exactMatch Orphanet:530838 semapv:UnspecifiedMatching +obo:GARD_5186 KRT1-related diffuse nonepidermolytic keratoderma skos:narrowMatch OMIM:600962 semapv:UnspecifiedMatching +obo:GARD_5188 Stormorken-Sjaastad-Langslet syndrome skos:exactMatch Orphanet:3204 semapv:UnspecifiedMatching +obo:GARD_5188 Stormorken-Sjaastad-Langslet syndrome skos:narrowMatch OMIM:185070 semapv:UnspecifiedMatching +obo:GARD_519 Idiopathic acute eosinophilic pneumonia skos:exactMatch Orphanet:724 semapv:UnspecifiedMatching +obo:GARD_5191 Thrombocytopenia 2 skos:broadMatch Orphanet:168629 semapv:UnspecifiedMatching +obo:GARD_5191 Thrombocytopenia 2 skos:exactMatch OMIM:188000 semapv:UnspecifiedMatching +obo:GARD_5194 Immune thrombocytopenia skos:exactMatch Orphanet:3002 semapv:UnspecifiedMatching +obo:GARD_5194 Immune thrombocytopenia skos:narrowMatch OMIM:188030 semapv:UnspecifiedMatching +obo:GARD_5195 Familial thrombomodulin anomalies skos:exactMatch Orphanet:3324 semapv:UnspecifiedMatching +obo:GARD_5199 Thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch Orphanet:2251 semapv:UnspecifiedMatching +obo:GARD_5199 Thumb deformity-alopecia-pigmentation anomaly syndrome skos:narrowMatch OMIM:188150 semapv:UnspecifiedMatching +obo:GARD_5201 Thymic epithelial neoplasm skos:exactMatch Orphanet:3398 semapv:UnspecifiedMatching +obo:GARD_5202 Thymic-renal-anal-lung dysplasia skos:exactMatch Orphanet:3326 semapv:UnspecifiedMatching +obo:GARD_5202 Thymic-renal-anal-lung dysplasia skos:narrowMatch OMIM:274265 semapv:UnspecifiedMatching +obo:GARD_5204 Familial thyroglossal duct cyst skos:exactMatch Orphanet:93953 semapv:UnspecifiedMatching +obo:GARD_5204 Familial thyroglossal duct cyst skos:narrowMatch OMIM:188455 semapv:UnspecifiedMatching +obo:GARD_5206 Thyroid cancer, nonmedullary, 2 skos:broadMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_5206 Thyroid cancer, nonmedullary, 2 skos:exactMatch OMIM:188470 semapv:UnspecifiedMatching +obo:GARD_521 Sweet syndrome skos:exactMatch Orphanet:3243 semapv:UnspecifiedMatching +obo:GARD_521 Sweet syndrome skos:narrowMatch OMIM:608068 semapv:UnspecifiedMatching +obo:GARD_5210 Absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch Orphanet:3328 semapv:UnspecifiedMatching +obo:GARD_5210 Absent tibia-polydactyly-arachnoid cyst syndrome skos:narrowMatch OMIM:601027 semapv:UnspecifiedMatching +obo:GARD_5216 Tick-borne encephalitis skos:exactMatch Orphanet:297 semapv:UnspecifiedMatching +obo:GARD_522 Acute lymphoblastic leukemia skos:exactMatch Orphanet:513 semapv:UnspecifiedMatching +obo:GARD_522 Acute lymphoblastic leukemia skos:narrowMatch OMIM:247640 semapv:UnspecifiedMatching +obo:GARD_522 Acute lymphoblastic leukemia skos:narrowMatch OMIM:613065 semapv:UnspecifiedMatching +obo:GARD_522 Acute lymphoblastic leukemia skos:narrowMatch OMIM:613067 semapv:UnspecifiedMatching +obo:GARD_5221 Hereditary neuropathy with liability to pressure palsies skos:exactMatch Orphanet:640 semapv:UnspecifiedMatching +obo:GARD_5221 Hereditary neuropathy with liability to pressure palsies skos:narrowMatch OMIM:162500 semapv:UnspecifiedMatching +obo:GARD_5225 Toriello-Carey syndrome skos:exactMatch Orphanet:3338 semapv:UnspecifiedMatching +obo:GARD_5225 Toriello-Carey syndrome skos:narrowMatch OMIM:217980 semapv:UnspecifiedMatching +obo:GARD_5230 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch Orphanet:3341 semapv:UnspecifiedMatching +obo:GARD_5230 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:narrowMatch OMIM:314300 semapv:UnspecifiedMatching +obo:GARD_5231 Skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:293165 semapv:UnspecifiedMatching +obo:GARD_5231 Skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:narrowMatch OMIM:607655 semapv:UnspecifiedMatching +obo:GARD_5232 Weismann-Netter syndrome skos:exactMatch Orphanet:3344 semapv:UnspecifiedMatching +obo:GARD_5232 Weismann-Netter syndrome skos:narrowMatch OMIM:112350 semapv:UnspecifiedMatching +obo:GARD_5233 Tracheal agenesis skos:exactMatch Orphanet:3346 semapv:UnspecifiedMatching +obo:GARD_5235 Tracheobronchopathia osteochondroplastica skos:exactMatch Orphanet:3348 semapv:UnspecifiedMatching +obo:GARD_5235 Tracheobronchopathia osteochondroplastica skos:narrowMatch OMIM:189961 semapv:UnspecifiedMatching +obo:GARD_5237 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching +obo:GARD_5237 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome skos:narrowMatch OMIM:615710 semapv:UnspecifiedMatching +obo:GARD_5238 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch Orphanet:3052 semapv:UnspecifiedMatching +obo:GARD_5238 X-linked intellectual disability-seizures-psoriasis syndrome skos:narrowMatch OMIM:309480 semapv:UnspecifiedMatching +obo:GARD_524 Acute megakaryoblastic leukemia skos:exactMatch Orphanet:518 semapv:UnspecifiedMatching +obo:GARD_5243 Autosomal dominant optic atrophy plus syndrome skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching +obo:GARD_5243 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:125250 semapv:UnspecifiedMatching +obo:GARD_5243 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:165199 semapv:UnspecifiedMatching +obo:GARD_5243 Autosomal dominant optic atrophy plus syndrome skos:narrowMatch OMIM:616648 semapv:UnspecifiedMatching +obo:GARD_525 Acute monoblastic/monocytic leukemia skos:exactMatch Orphanet:514 semapv:UnspecifiedMatching +obo:GARD_5250 Trichinellosis skos:exactMatch Orphanet:863 semapv:UnspecifiedMatching +obo:GARD_5258 Syndromic diarrhea skos:exactMatch Orphanet:84064 semapv:UnspecifiedMatching +obo:GARD_5258 Syndromic diarrhea skos:narrowMatch OMIM:222470 semapv:UnspecifiedMatching +obo:GARD_5258 Syndromic diarrhea skos:narrowMatch OMIM:614602 semapv:UnspecifiedMatching +obo:GARD_526 Acute myeloblastic leukemia without maturation skos:exactMatch Orphanet:98833 semapv:UnspecifiedMatching +obo:GARD_5261 Trichodysplasia-xeroderma syndrome skos:exactMatch Orphanet:3361 semapv:UnspecifiedMatching +obo:GARD_5261 Trichodysplasia-xeroderma syndrome skos:narrowMatch OMIM:190360 semapv:UnspecifiedMatching +obo:GARD_5263 Trichofolliculoma skos:exactMatch Orphanet:864 semapv:UnspecifiedMatching +obo:GARD_5266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch Orphanet:3363 semapv:UnspecifiedMatching +obo:GARD_5266 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:narrowMatch OMIM:275400 semapv:UnspecifiedMatching +obo:GARD_5267 Trichoodontoonychial dysplasia skos:exactMatch Orphanet:3355 semapv:UnspecifiedMatching +obo:GARD_5267 Trichoodontoonychial dysplasia skos:narrowMatch OMIM:275450 semapv:UnspecifiedMatching +obo:GARD_527 Acute myeloblastic leukemia with maturation skos:exactMatch Orphanet:98834 semapv:UnspecifiedMatching +obo:GARD_5270 Trichothiodystrophy 1, photosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_5270 Trichothiodystrophy 1, photosensitive skos:exactMatch OMIM:601675 semapv:UnspecifiedMatching +obo:GARD_5271 Trichothiodystrophy 4, nonphotosensitive skos:broadMatch Orphanet:33364 semapv:UnspecifiedMatching +obo:GARD_5271 Trichothiodystrophy 4, nonphotosensitive skos:exactMatch OMIM:234050 semapv:UnspecifiedMatching +obo:GARD_5274 Tricuspid atresia skos:exactMatch Orphanet:1209 semapv:UnspecifiedMatching +obo:GARD_5274 Tricuspid atresia skos:narrowMatch OMIM:605067 semapv:UnspecifiedMatching +obo:GARD_5279 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch Orphanet:2995 semapv:UnspecifiedMatching +obo:GARD_5279 Baraitser-Winter cerebrofrontofacial syndrome skos:narrowMatch OMIM:243310 semapv:UnspecifiedMatching +obo:GARD_5279 Baraitser-Winter cerebrofrontofacial syndrome skos:narrowMatch OMIM:614583 semapv:UnspecifiedMatching +obo:GARD_5286 Triopia skos:exactMatch Orphanet:3374 semapv:UnspecifiedMatching +obo:GARD_5287 Triose phosphate-isomerase deficiency skos:exactMatch Orphanet:868 semapv:UnspecifiedMatching +obo:GARD_5287 Triose phosphate-isomerase deficiency skos:narrowMatch OMIM:615512 semapv:UnspecifiedMatching +obo:GARD_5289 Polydactyly of a triphalangeal thumb skos:exactMatch Orphanet:93336 semapv:UnspecifiedMatching +obo:GARD_5289 Polydactyly of a triphalangeal thumb skos:narrowMatch OMIM:174500 semapv:UnspecifiedMatching +obo:GARD_529 Acute myelomonocytic leukemia skos:exactMatch Orphanet:517 semapv:UnspecifiedMatching +obo:GARD_5290 Triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch Orphanet:2947 semapv:UnspecifiedMatching +obo:GARD_5290 Triphalangeal thumbs-brachyectrodactyly syndrome skos:narrowMatch OMIM:190680 semapv:UnspecifiedMatching +obo:GARD_5295 Triploidy skos:exactMatch Orphanet:3376 semapv:UnspecifiedMatching +obo:GARD_5299 Trisomy 10p skos:exactMatch Orphanet:171929 semapv:UnspecifiedMatching +obo:GARD_5304 Mosaic trisomy 12 skos:exactMatch Orphanet:1698 semapv:UnspecifiedMatching +obo:GARD_5305 Trisomy 12p skos:exactMatch Orphanet:1699 semapv:UnspecifiedMatching +obo:GARD_5313 Mosaic trisomy 15 skos:exactMatch Orphanet:1706 semapv:UnspecifiedMatching +obo:GARD_5317 Mosaic trisomy 17 skos:exactMatch Orphanet:1711 semapv:UnspecifiedMatching +obo:GARD_5318 Trisomy 17p skos:exactMatch Orphanet:261290 semapv:UnspecifiedMatching +obo:GARD_5323 Trisomy 18p skos:exactMatch Orphanet:1715 semapv:UnspecifiedMatching +obo:GARD_5331 Mosaic trisomy 2 skos:exactMatch Orphanet:1723 semapv:UnspecifiedMatching +obo:GARD_5333 Trisomy 20p skos:exactMatch Orphanet:261318 semapv:UnspecifiedMatching +obo:GARD_5342 Mosaic trisomy 3 skos:exactMatch Orphanet:100071 semapv:UnspecifiedMatching +obo:GARD_5354 Mosaic trisomy 7 skos:exactMatch Orphanet:1747 semapv:UnspecifiedMatching +obo:GARD_5359 Mosaic trisomy 8 skos:exactMatch Orphanet:96061 semapv:UnspecifiedMatching +obo:GARD_536 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch Orphanet:98829 semapv:UnspecifiedMatching +obo:GARD_5362 Trisomy 8q skos:exactMatch Orphanet:1752 semapv:UnspecifiedMatching +obo:GARD_5372 Autosomal recessive spastic paraplegia type 20 skos:exactMatch Orphanet:101000 semapv:UnspecifiedMatching +obo:GARD_5372 Autosomal recessive spastic paraplegia type 20 skos:narrowMatch OMIM:275900 semapv:UnspecifiedMatching +obo:GARD_538 Acute promyelocytic leukemia skos:exactMatch Orphanet:520 semapv:UnspecifiedMatching +obo:GARD_538 Acute promyelocytic leukemia skos:narrowMatch OMIM:612376 semapv:UnspecifiedMatching +obo:GARD_5388 Transient tyrosinemia of the newborn skos:exactMatch Orphanet:3402 semapv:UnspecifiedMatching +obo:GARD_5392 Galactose epimerase deficiency skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching +obo:GARD_5392 Galactose epimerase deficiency skos:narrowMatch OMIM:230350 semapv:UnspecifiedMatching +obo:GARD_5393 Uhl anomaly skos:exactMatch Orphanet:3403 semapv:UnspecifiedMatching +obo:GARD_5393 Uhl anomaly skos:narrowMatch OMIM:107970 semapv:UnspecifiedMatching +obo:GARD_5394 Ulbright-Hodes syndrome skos:exactMatch Orphanet:3404 semapv:UnspecifiedMatching +obo:GARD_5394 Ulbright-Hodes syndrome skos:narrowMatch OMIM:266910 semapv:UnspecifiedMatching +obo:GARD_5395 Ulerythema ophryogenesis skos:exactMatch Orphanet:3406 semapv:UnspecifiedMatching +obo:GARD_5395 Ulerythema ophryogenesis skos:narrowMatch OMIM:604093 semapv:UnspecifiedMatching +obo:GARD_5398 Ulna hypoplasia-intellectual disability syndrome skos:exactMatch Orphanet:2249 semapv:UnspecifiedMatching +obo:GARD_5398 Ulna hypoplasia-intellectual disability syndrome skos:narrowMatch OMIM:276821 semapv:UnspecifiedMatching +obo:GARD_54 Duodenal atresia skos:exactMatch Orphanet:1203 semapv:UnspecifiedMatching +obo:GARD_54 Duodenal atresia skos:narrowMatch OMIM:223400 semapv:UnspecifiedMatching +obo:GARD_540 Medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:42 semapv:UnspecifiedMatching +obo:GARD_540 Medium chain acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:201450 semapv:UnspecifiedMatching +obo:GARD_5400 Ulnar hypoplasia-split foot syndrome skos:exactMatch Orphanet:1122 semapv:UnspecifiedMatching +obo:GARD_5400 Ulnar hypoplasia-split foot syndrome skos:narrowMatch OMIM:314360 semapv:UnspecifiedMatching +obo:GARD_5403 Umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch Orphanet:3405 semapv:UnspecifiedMatching +obo:GARD_5404 Uncombable hair syndrome skos:exactMatch Orphanet:1410 semapv:UnspecifiedMatching +obo:GARD_5404 Uncombable hair syndrome skos:narrowMatch OMIM:191480 semapv:UnspecifiedMatching +obo:GARD_5404 Uncombable hair syndrome skos:narrowMatch OMIM:617251 semapv:UnspecifiedMatching +obo:GARD_5404 Uncombable hair syndrome skos:narrowMatch OMIM:617252 semapv:UnspecifiedMatching +obo:GARD_5408 17q11 microdeletion syndrome skos:exactMatch Orphanet:97685 semapv:UnspecifiedMatching +obo:GARD_5408 17q11 microdeletion syndrome skos:narrowMatch OMIM:613675 semapv:UnspecifiedMatching +obo:GARD_5409 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96334 semapv:UnspecifiedMatching +obo:GARD_5409 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 skos:narrowMatch OMIM:608149 semapv:UnspecifiedMatching +obo:GARD_5421 Upington disease skos:exactMatch Orphanet:3408 semapv:UnspecifiedMatching +obo:GARD_5421 Upington disease skos:narrowMatch OMIM:191520 semapv:UnspecifiedMatching +obo:GARD_5425 Urachal cyst skos:exactMatch Orphanet:488 semapv:UnspecifiedMatching +obo:GARD_5426 Urban-Rogers-Meyer syndrome skos:exactMatch Orphanet:3409 semapv:UnspecifiedMatching +obo:GARD_5426 Urban-Rogers-Meyer syndrome skos:narrowMatch OMIM:264010 semapv:UnspecifiedMatching +obo:GARD_5427 Hereditary mucoepithelial dysplasia skos:exactMatch Orphanet:1839 semapv:UnspecifiedMatching +obo:GARD_5427 Hereditary mucoepithelial dysplasia skos:narrowMatch OMIM:158310 semapv:UnspecifiedMatching +obo:GARD_5429 Hereditary orotic aciduria skos:exactMatch Orphanet:30 semapv:UnspecifiedMatching +obo:GARD_5429 Hereditary orotic aciduria skos:narrowMatch OMIM:258900 semapv:UnspecifiedMatching +obo:GARD_5430 Müllerian derivatives-lymphangiectasia-polydactyly syndrome skos:exactMatch Orphanet:1655 semapv:UnspecifiedMatching +obo:GARD_5430 Müllerian derivatives-lymphangiectasia-polydactyly syndrome skos:narrowMatch OMIM:235255 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:exactMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:276900 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:276904 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:601067 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:602083 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:602097 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:606943 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:612632 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:614869 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:614990 semapv:UnspecifiedMatching +obo:GARD_5435 Usher syndrome type 1 skos:narrowMatch OMIM:618632 semapv:UnspecifiedMatching +obo:GARD_5436 Usher syndrome, type i skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_5436 Usher syndrome, type i skos:exactMatch OMIM:276900 semapv:UnspecifiedMatching +obo:GARD_5437 Usher syndrome, type ic skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_5437 Usher syndrome, type ic skos:exactMatch OMIM:276904 semapv:UnspecifiedMatching +obo:GARD_5438 Usher syndrome, type id skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_5438 Usher syndrome, type id skos:exactMatch OMIM:601067 semapv:UnspecifiedMatching +obo:GARD_5439 Usher syndrome, type ie skos:broadMatch Orphanet:231169 semapv:UnspecifiedMatching +obo:GARD_5439 Usher syndrome, type ie skos:exactMatch OMIM:602097 semapv:UnspecifiedMatching +obo:GARD_5440 Usher syndrome type 2 skos:exactMatch Orphanet:231178 semapv:UnspecifiedMatching +obo:GARD_5440 Usher syndrome type 2 skos:narrowMatch OMIM:276901 semapv:UnspecifiedMatching +obo:GARD_5440 Usher syndrome type 2 skos:narrowMatch OMIM:605472 semapv:UnspecifiedMatching +obo:GARD_5440 Usher syndrome type 2 skos:narrowMatch OMIM:611383 semapv:UnspecifiedMatching +obo:GARD_5442 Usher syndrome type 3 skos:exactMatch Orphanet:231183 semapv:UnspecifiedMatching +obo:GARD_5442 Usher syndrome type 3 skos:narrowMatch OMIM:276902 semapv:UnspecifiedMatching +obo:GARD_5442 Usher syndrome type 3 skos:narrowMatch OMIM:500004 semapv:UnspecifiedMatching +obo:GARD_5442 Usher syndrome type 3 skos:narrowMatch OMIM:614504 semapv:UnspecifiedMatching +obo:GARD_5443 VACTERL/VATER association skos:exactMatch Orphanet:887 semapv:UnspecifiedMatching +obo:GARD_5443 VACTERL/VATER association skos:narrowMatch OMIM:192350 semapv:UnspecifiedMatching +obo:GARD_5445 Mayer-Rokitansky-Küster-Hauser syndrome skos:exactMatch Orphanet:3109 semapv:UnspecifiedMatching +obo:GARD_5445 Mayer-Rokitansky-Küster-Hauser syndrome skos:narrowMatch OMIM:277000 semapv:UnspecifiedMatching +obo:GARD_5445 Mayer-Rokitansky-Küster-Hauser syndrome skos:narrowMatch OMIM:601076 semapv:UnspecifiedMatching +obo:GARD_5447 Fetal valproate spectrum disorder skos:exactMatch Orphanet:1906 semapv:UnspecifiedMatching +obo:GARD_5447 Fetal valproate spectrum disorder skos:narrowMatch OMIM:609442 semapv:UnspecifiedMatching +obo:GARD_5453 Van den Bosch syndrome skos:exactMatch Orphanet:3417 semapv:UnspecifiedMatching +obo:GARD_5453 Van den Bosch syndrome skos:narrowMatch OMIM:314500 semapv:UnspecifiedMatching +obo:GARD_5456 Cerebrofacioarticular syndrome skos:exactMatch Orphanet:314679 semapv:UnspecifiedMatching +obo:GARD_5456 Cerebrofacioarticular syndrome skos:narrowMatch OMIM:601390 semapv:UnspecifiedMatching +obo:GARD_5456 Cerebrofacioarticular syndrome skos:narrowMatch OMIM:615546 semapv:UnspecifiedMatching +obo:GARD_546 Adenine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:976 semapv:UnspecifiedMatching +obo:GARD_546 Adenine phosphoribosyltransferase deficiency skos:narrowMatch OMIM:614723 semapv:UnspecifiedMatching +obo:GARD_5461 Congenital bilateral absence of vas deferens skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching +obo:GARD_5461 Congenital bilateral absence of vas deferens skos:narrowMatch OMIM:277180 semapv:UnspecifiedMatching +obo:GARD_5461 Congenital bilateral absence of vas deferens skos:narrowMatch OMIM:300985 semapv:UnspecifiedMatching +obo:GARD_5467 Vein of Galen aneurysmal malformation skos:exactMatch Orphanet:1053 semapv:UnspecifiedMatching +obo:GARD_5467 Vein of Galen aneurysmal malformation skos:narrowMatch OMIM:618196 semapv:UnspecifiedMatching +obo:GARD_5469 Velo-facial-skeletal syndrome skos:exactMatch Orphanet:3424 semapv:UnspecifiedMatching +obo:GARD_5469 Velo-facial-skeletal syndrome skos:narrowMatch OMIM:600736 semapv:UnspecifiedMatching +obo:GARD_547 Adenosine monophosphate deaminase deficiency skos:exactMatch Orphanet:45 semapv:UnspecifiedMatching +obo:GARD_547 Adenosine monophosphate deaminase deficiency skos:narrowMatch OMIM:612874 semapv:UnspecifiedMatching +obo:GARD_547 Adenosine monophosphate deaminase deficiency skos:narrowMatch OMIM:615511 semapv:UnspecifiedMatching +obo:GARD_5470 Congenital velopharyngeal incompetence skos:exactMatch Orphanet:2291 semapv:UnspecifiedMatching +obo:GARD_5470 Congenital velopharyngeal incompetence skos:narrowMatch OMIM:167500 semapv:UnspecifiedMatching +obo:GARD_5472 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome skos:exactMatch Orphanet:3201 semapv:UnspecifiedMatching +obo:GARD_5472 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome skos:narrowMatch OMIM:192445 semapv:UnspecifiedMatching +obo:GARD_5476 Congenitally uncorrected transposition of the great arteries skos:exactMatch Orphanet:860 semapv:UnspecifiedMatching +obo:GARD_5476 Congenitally uncorrected transposition of the great arteries skos:narrowMatch OMIM:608808 semapv:UnspecifiedMatching +obo:GARD_5476 Congenitally uncorrected transposition of the great arteries skos:narrowMatch OMIM:613854 semapv:UnspecifiedMatching +obo:GARD_5478 Brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:2899 semapv:UnspecifiedMatching +obo:GARD_5478 Brachyolmia-amelogenesis imperfecta syndrome skos:narrowMatch OMIM:601216 semapv:UnspecifiedMatching +obo:GARD_5481 Microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch Orphanet:2551 semapv:UnspecifiedMatching +obo:GARD_5481 Microspherophakia-metaphyseal dysplasia syndrome skos:narrowMatch OMIM:157151 semapv:UnspecifiedMatching +obo:GARD_5482 Verloove Vanhorick-Brubakk syndrome skos:exactMatch Orphanet:3429 semapv:UnspecifiedMatching +obo:GARD_5482 Verloove Vanhorick-Brubakk syndrome skos:narrowMatch OMIM:215850 semapv:UnspecifiedMatching +obo:GARD_5484 Inflammatory linear verrucous epidermal nevus skos:exactMatch Orphanet:79466 semapv:UnspecifiedMatching +obo:GARD_5485 Acanthokeratolytic verrucous nevus skos:exactMatch Orphanet:79468 semapv:UnspecifiedMatching +obo:GARD_5488 Congenital vertical talus skos:exactMatch Orphanet:178382 semapv:UnspecifiedMatching +obo:GARD_5488 Congenital vertical talus skos:narrowMatch OMIM:192950 semapv:UnspecifiedMatching +obo:GARD_5490 Microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch Orphanet:3433 semapv:UnspecifiedMatching +obo:GARD_5494 Viral hemorrhagic fever skos:exactMatch Orphanet:341 semapv:UnspecifiedMatching +obo:GARD_5495 Malignant Sertoli-Leydig cell tumor of the ovary skos:exactMatch Orphanet:99916 semapv:UnspecifiedMatching +obo:GARD_5496 Oculogastrointestinal muscular dystrophy skos:exactMatch Orphanet:1876 semapv:UnspecifiedMatching +obo:GARD_5496 Oculogastrointestinal muscular dystrophy skos:narrowMatch OMIM:277320 semapv:UnspecifiedMatching +obo:GARD_550 Adenylosuccinate lyase deficiency skos:exactMatch Orphanet:46 semapv:UnspecifiedMatching +obo:GARD_550 Adenylosuccinate lyase deficiency skos:narrowMatch OMIM:103050 semapv:UnspecifiedMatching +obo:GARD_5500 Vitamin B12-responsive methylmalonic acidemia type cblA skos:exactMatch Orphanet:79310 semapv:UnspecifiedMatching +obo:GARD_5500 Vitamin B12-responsive methylmalonic acidemia type cblA skos:narrowMatch OMIM:251100 semapv:UnspecifiedMatching +obo:GARD_5507 Autosomal dominant vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 semapv:UnspecifiedMatching +obo:GARD_5507 Autosomal dominant vitreoretinochoroidopathy skos:narrowMatch OMIM:193220 semapv:UnspecifiedMatching +obo:GARD_5508 Very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26793 semapv:UnspecifiedMatching +obo:GARD_5508 Very long chain acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:201475 semapv:UnspecifiedMatching +obo:GARD_5509 Laryngeal abductor paralysis skos:exactMatch Orphanet:2808 semapv:UnspecifiedMatching +obo:GARD_5509 Laryngeal abductor paralysis skos:narrowMatch OMIM:150260 semapv:UnspecifiedMatching +obo:GARD_5513 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch Orphanet:2578 semapv:UnspecifiedMatching +obo:GARD_5513 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:narrowMatch OMIM:601076 semapv:UnspecifiedMatching +obo:GARD_5518 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch Orphanet:2180 semapv:UnspecifiedMatching +obo:GARD_5518 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:narrowMatch OMIM:600991 semapv:UnspecifiedMatching +obo:GARD_5519 Waardenburg syndrome type 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching +obo:GARD_5519 Waardenburg syndrome type 1 skos:narrowMatch OMIM:193500 semapv:UnspecifiedMatching +obo:GARD_5520 Waardenburg syndrome type 2 skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching +obo:GARD_5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:193510 semapv:UnspecifiedMatching +obo:GARD_5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:600193 semapv:UnspecifiedMatching +obo:GARD_5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:606662 semapv:UnspecifiedMatching +obo:GARD_5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:608890 semapv:UnspecifiedMatching +obo:GARD_5520 Waardenburg syndrome type 2 skos:narrowMatch OMIM:611584 semapv:UnspecifiedMatching +obo:GARD_5522 Waardenburg syndrome, type 2b skos:broadMatch Orphanet:895 semapv:UnspecifiedMatching +obo:GARD_5522 Waardenburg syndrome, type 2b skos:exactMatch OMIM:600193 semapv:UnspecifiedMatching +obo:GARD_5523 Waardenburg syndrome type 3 skos:exactMatch Orphanet:896 semapv:UnspecifiedMatching +obo:GARD_5523 Waardenburg syndrome type 3 skos:narrowMatch OMIM:148820 semapv:UnspecifiedMatching +obo:GARD_5524 Waardenburg-Shah syndrome skos:exactMatch Orphanet:897 semapv:UnspecifiedMatching +obo:GARD_5524 Waardenburg-Shah syndrome skos:narrowMatch OMIM:277580 semapv:UnspecifiedMatching +obo:GARD_5524 Waardenburg-Shah syndrome skos:narrowMatch OMIM:613265 semapv:UnspecifiedMatching +obo:GARD_5524 Waardenburg-Shah syndrome skos:narrowMatch OMIM:613266 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:148820 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:193500 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:193510 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:600193 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:606662 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:608890 semapv:UnspecifiedMatching +obo:GARD_5525 Waardenburg syndrome skos:narrowMatch OMIM:611584 semapv:UnspecifiedMatching +obo:GARD_5528 WAGR syndrome skos:exactMatch Orphanet:893 semapv:UnspecifiedMatching +obo:GARD_5528 WAGR syndrome skos:narrowMatch OMIM:194072 semapv:UnspecifiedMatching +obo:GARD_5528 WAGR syndrome skos:narrowMatch OMIM:612469 semapv:UnspecifiedMatching +obo:GARD_5530 Aniridia-intellectual disability syndrome skos:exactMatch Orphanet:1068 semapv:UnspecifiedMatching +obo:GARD_5532 Cleidorhizomelic syndrome skos:exactMatch Orphanet:1453 semapv:UnspecifiedMatching +obo:GARD_5532 Cleidorhizomelic syndrome skos:narrowMatch OMIM:119650 semapv:UnspecifiedMatching +obo:GARD_5534 Micro syndrome skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching +obo:GARD_5534 Micro syndrome skos:narrowMatch OMIM:600118 semapv:UnspecifiedMatching +obo:GARD_5534 Micro syndrome skos:narrowMatch OMIM:614222 semapv:UnspecifiedMatching +obo:GARD_5534 Micro syndrome skos:narrowMatch OMIM:614225 semapv:UnspecifiedMatching +obo:GARD_5534 Micro syndrome skos:narrowMatch OMIM:615663 semapv:UnspecifiedMatching +obo:GARD_5535 Deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch Orphanet:3214 semapv:UnspecifiedMatching +obo:GARD_5535 Deaf blind hypopigmentation syndrome, Yemenite type skos:narrowMatch OMIM:601706 semapv:UnspecifiedMatching +obo:GARD_5538 Craniosynostosis, Boston type skos:exactMatch Orphanet:1541 semapv:UnspecifiedMatching +obo:GARD_5538 Craniosynostosis, Boston type skos:narrowMatch OMIM:604757 semapv:UnspecifiedMatching +obo:GARD_5539 Acromelic frontonasal dysplasia skos:exactMatch Orphanet:1827 semapv:UnspecifiedMatching +obo:GARD_5539 Acromelic frontonasal dysplasia skos:narrowMatch OMIM:603671 semapv:UnspecifiedMatching +obo:GARD_5545 Weaver-Williams syndrome skos:exactMatch Orphanet:3448 semapv:UnspecifiedMatching +obo:GARD_555 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:95702 semapv:UnspecifiedMatching +obo:GARD_555 X-linked adrenal hypoplasia congenita skos:narrowMatch OMIM:202155 semapv:UnspecifiedMatching +obo:GARD_555 X-linked adrenal hypoplasia congenita skos:narrowMatch OMIM:300200 semapv:UnspecifiedMatching +obo:GARD_5552 Distal myopathy, Welander type skos:exactMatch Orphanet:603 semapv:UnspecifiedMatching +obo:GARD_5552 Distal myopathy, Welander type skos:narrowMatch OMIM:604454 semapv:UnspecifiedMatching +obo:GARD_5554 Cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch Orphanet:1373 semapv:UnspecifiedMatching +obo:GARD_5554 Cataract-aberrant oral frenula-growth delay syndrome skos:narrowMatch OMIM:115645 semapv:UnspecifiedMatching +obo:GARD_5555 Spastic paraparesis-deafness syndrome skos:exactMatch Orphanet:2815 semapv:UnspecifiedMatching +obo:GARD_5555 Spastic paraparesis-deafness syndrome skos:narrowMatch OMIM:312910 semapv:UnspecifiedMatching +obo:GARD_5560 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch Orphanet:3207 semapv:UnspecifiedMatching +obo:GARD_5562 Osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch Orphanet:2779 semapv:UnspecifiedMatching +obo:GARD_5565 Wiedemann-Steiner syndrome skos:exactMatch Orphanet:319182 semapv:UnspecifiedMatching +obo:GARD_5565 Wiedemann-Steiner syndrome skos:narrowMatch OMIM:605130 semapv:UnspecifiedMatching +obo:GARD_5569 Wildervanck syndrome skos:exactMatch Orphanet:3456 semapv:UnspecifiedMatching +obo:GARD_5569 Wildervanck syndrome skos:narrowMatch OMIM:314600 semapv:UnspecifiedMatching +obo:GARD_5573 Acquired von Willebrand syndrome skos:exactMatch Orphanet:99147 semapv:UnspecifiedMatching +obo:GARD_5575 Prader-Willi syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching +obo:GARD_5575 Prader-Willi syndrome skos:narrowMatch OMIM:176270 semapv:UnspecifiedMatching +obo:GARD_5575 Prader-Willi syndrome skos:narrowMatch OMIM:615547 semapv:UnspecifiedMatching +obo:GARD_5576 Denys-Drash syndrome skos:exactMatch Orphanet:220 semapv:UnspecifiedMatching +obo:GARD_5576 Denys-Drash syndrome skos:narrowMatch OMIM:194080 semapv:UnspecifiedMatching +obo:GARD_5579 Wilson-Turner syndrome skos:exactMatch Orphanet:3459 semapv:UnspecifiedMatching +obo:GARD_5579 Wilson-Turner syndrome skos:narrowMatch OMIM:309585 semapv:UnspecifiedMatching +obo:GARD_558 Adrenocortical carcinoma skos:exactMatch Orphanet:1501 semapv:UnspecifiedMatching +obo:GARD_558 Adrenocortical carcinoma skos:narrowMatch OMIM:202300 semapv:UnspecifiedMatching +obo:GARD_5584 Curry-Jones syndrome skos:exactMatch Orphanet:1553 semapv:UnspecifiedMatching +obo:GARD_5584 Curry-Jones syndrome skos:narrowMatch OMIM:601707 semapv:UnspecifiedMatching +obo:GARD_5587 Hypodontia-dysplasia of nails syndrome skos:exactMatch Orphanet:2228 semapv:UnspecifiedMatching +obo:GARD_5587 Hypodontia-dysplasia of nails syndrome skos:narrowMatch OMIM:189500 semapv:UnspecifiedMatching +obo:GARD_5589 Wolcott-Rallison syndrome skos:exactMatch Orphanet:1667 semapv:UnspecifiedMatching +obo:GARD_5589 Wolcott-Rallison syndrome skos:narrowMatch OMIM:226980 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:exactMatch Orphanet:44 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:202370 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:266510 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:601539 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614863 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614867 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614871 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614873 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614877 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614885 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:614920 semapv:UnspecifiedMatching +obo:GARD_559 Neonatal adrenoleukodystrophy skos:narrowMatch OMIM:617370 semapv:UnspecifiedMatching +obo:GARD_5592 Woodhouse-Sakati syndrome skos:exactMatch Orphanet:3464 semapv:UnspecifiedMatching +obo:GARD_5592 Woodhouse-Sakati syndrome skos:narrowMatch OMIM:241080 semapv:UnspecifiedMatching +obo:GARD_5593 Intrauterine growth retardation with increased mitomycin c sensitivity skos:broadMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_5593 Intrauterine growth retardation with increased mitomycin c sensitivity skos:exactMatch OMIM:600546 semapv:UnspecifiedMatching +obo:GARD_5595 Carvajal syndrome skos:exactMatch Orphanet:65282 semapv:UnspecifiedMatching +obo:GARD_5595 Carvajal syndrome skos:narrowMatch OMIM:605676 semapv:UnspecifiedMatching +obo:GARD_5595 Carvajal syndrome skos:narrowMatch OMIM:615821 semapv:UnspecifiedMatching +obo:GARD_5597 Woolly hair skos:exactMatch Orphanet:170 semapv:UnspecifiedMatching +obo:GARD_5597 Woolly hair skos:narrowMatch OMIM:194300 semapv:UnspecifiedMatching +obo:GARD_5597 Woolly hair skos:narrowMatch OMIM:278150 semapv:UnspecifiedMatching +obo:GARD_5597 Woolly hair skos:narrowMatch OMIM:604379 semapv:UnspecifiedMatching +obo:GARD_5597 Woolly hair skos:narrowMatch OMIM:615896 semapv:UnspecifiedMatching +obo:GARD_5597 Woolly hair skos:narrowMatch OMIM:616760 semapv:UnspecifiedMatching +obo:GARD_5598 Worster-Drought syndrome skos:exactMatch Orphanet:3465 semapv:UnspecifiedMatching +obo:GARD_5598 Worster-Drought syndrome skos:narrowMatch OMIM:185480 semapv:UnspecifiedMatching +obo:GARD_5611 Severe X-linked intellectual disability, Gustavson type skos:exactMatch Orphanet:3078 semapv:UnspecifiedMatching +obo:GARD_5611 Severe X-linked intellectual disability, Gustavson type skos:narrowMatch OMIM:309555 semapv:UnspecifiedMatching +obo:GARD_5613 Intellectual developmental disorder, x-linked 63 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_5613 Intellectual developmental disorder, x-linked 63 skos:exactMatch OMIM:300387 semapv:UnspecifiedMatching +obo:GARD_5614 Intellectual developmental disorder, x-linked 29 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_5614 Intellectual developmental disorder, x-linked 29 skos:exactMatch OMIM:300419 semapv:UnspecifiedMatching +obo:GARD_5615 X-linked intellectual disability, Snyder type skos:exactMatch Orphanet:3063 semapv:UnspecifiedMatching +obo:GARD_5615 X-linked intellectual disability, Snyder type skos:narrowMatch OMIM:309583 semapv:UnspecifiedMatching +obo:GARD_5617 Allan-Herndon-Dudley syndrome skos:exactMatch Orphanet:59 semapv:UnspecifiedMatching +obo:GARD_5617 Allan-Herndon-Dudley syndrome skos:narrowMatch OMIM:300523 semapv:UnspecifiedMatching +obo:GARD_5618 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch Orphanet:276 semapv:UnspecifiedMatching +obo:GARD_5618 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:narrowMatch OMIM:300400 semapv:UnspecifiedMatching +obo:GARD_562 Adrenomyodystrophy skos:exactMatch Orphanet:977 semapv:UnspecifiedMatching +obo:GARD_562 Adrenomyodystrophy skos:narrowMatch OMIM:300270 semapv:UnspecifiedMatching +obo:GARD_5620 Xanthinuria type II skos:exactMatch Orphanet:93602 semapv:UnspecifiedMatching +obo:GARD_5620 Xanthinuria type II skos:narrowMatch OMIM:603592 semapv:UnspecifiedMatching +obo:GARD_5621 Xanthinuria type I skos:exactMatch Orphanet:93601 semapv:UnspecifiedMatching +obo:GARD_5621 Xanthinuria type I skos:narrowMatch OMIM:278300 semapv:UnspecifiedMatching +obo:GARD_5622 Cerebrotendinous xanthomatosis skos:exactMatch Orphanet:909 semapv:UnspecifiedMatching +obo:GARD_5622 Cerebrotendinous xanthomatosis skos:narrowMatch OMIM:213700 semapv:UnspecifiedMatching +obo:GARD_5623 Dehydrated hereditary stomatocytosis skos:exactMatch Orphanet:3202 semapv:UnspecifiedMatching +obo:GARD_5623 Dehydrated hereditary stomatocytosis skos:narrowMatch OMIM:194380 semapv:UnspecifiedMatching +obo:GARD_5623 Dehydrated hereditary stomatocytosis skos:narrowMatch OMIM:616689 semapv:UnspecifiedMatching +obo:GARD_5624 Xeroderma pigmentosum, complementation group a skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_5624 Xeroderma pigmentosum, complementation group a skos:exactMatch OMIM:278700 semapv:UnspecifiedMatching +obo:GARD_5625 Xeroderma pigmentosum, complementation group b skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +obo:GARD_5625 Xeroderma pigmentosum, complementation group b skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_5625 Xeroderma pigmentosum, complementation group b skos:exactMatch OMIM:610651 semapv:UnspecifiedMatching +obo:GARD_5626 Xeroderma pigmentosum, complementation group c skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_5626 Xeroderma pigmentosum, complementation group c skos:exactMatch OMIM:278720 semapv:UnspecifiedMatching +obo:GARD_5627 Xeroderma pigmentosum, complementation group e skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_5627 Xeroderma pigmentosum, complementation group e skos:exactMatch OMIM:278740 semapv:UnspecifiedMatching +obo:GARD_5628 Xeroderma pigmentosum, complementation group f skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +obo:GARD_5628 Xeroderma pigmentosum, complementation group f skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_5628 Xeroderma pigmentosum, complementation group f skos:exactMatch OMIM:278760 semapv:UnspecifiedMatching +obo:GARD_5629 Xeroderma pigmentosum, complementation group g skos:broadMatch Orphanet:1466 semapv:UnspecifiedMatching +obo:GARD_5629 Xeroderma pigmentosum, complementation group g skos:broadMatch Orphanet:220295 semapv:UnspecifiedMatching +obo:GARD_5629 Xeroderma pigmentosum, complementation group g skos:broadMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_5629 Xeroderma pigmentosum, complementation group g skos:exactMatch OMIM:278780 semapv:UnspecifiedMatching +obo:GARD_5630 Xeroderma pigmentosum variant skos:exactMatch Orphanet:90342 semapv:UnspecifiedMatching +obo:GARD_5630 Xeroderma pigmentosum variant skos:narrowMatch OMIM:278750 semapv:UnspecifiedMatching +obo:GARD_564 Proximal spinal muscular atrophy type 4 skos:exactMatch Orphanet:83420 semapv:UnspecifiedMatching +obo:GARD_564 Proximal spinal muscular atrophy type 4 skos:narrowMatch OMIM:271150 semapv:UnspecifiedMatching +obo:GARD_5642 Aase-Smith syndrome skos:exactMatch Orphanet:916 semapv:UnspecifiedMatching +obo:GARD_5642 Aase-Smith syndrome skos:narrowMatch OMIM:147800 semapv:UnspecifiedMatching +obo:GARD_5643 Dentatorubral pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching +obo:GARD_5643 Dentatorubral pallidoluysian atrophy skos:narrowMatch OMIM:125370 semapv:UnspecifiedMatching +obo:GARD_5644 Cardiomyopathy, dilated, 1e skos:broadMatch Orphanet:154 semapv:UnspecifiedMatching +obo:GARD_5644 Cardiomyopathy, dilated, 1e skos:exactMatch OMIM:601154 semapv:UnspecifiedMatching +obo:GARD_5648 Photosensitive epilepsy skos:exactMatch Orphanet:166409 semapv:UnspecifiedMatching +obo:GARD_5648 Photosensitive epilepsy skos:narrowMatch OMIM:132100 semapv:UnspecifiedMatching +obo:GARD_5648 Photosensitive epilepsy skos:narrowMatch OMIM:609572 semapv:UnspecifiedMatching +obo:GARD_5648 Photosensitive epilepsy skos:narrowMatch OMIM:609573 semapv:UnspecifiedMatching +obo:GARD_5653 Gliosarcoma skos:exactMatch Orphanet:251576 semapv:UnspecifiedMatching +obo:GARD_5654 Alveolar soft tissue sarcoma skos:exactMatch Orphanet:163699 semapv:UnspecifiedMatching +obo:GARD_5654 Alveolar soft tissue sarcoma skos:narrowMatch OMIM:606243 semapv:UnspecifiedMatching +obo:GARD_5657 PFAPA syndrome skos:exactMatch Orphanet:42642 semapv:UnspecifiedMatching +obo:GARD_5658 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch Orphanet:90795 semapv:UnspecifiedMatching +obo:GARD_5658 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:narrowMatch OMIM:202010 semapv:UnspecifiedMatching +obo:GARD_5659 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 semapv:UnspecifiedMatching +obo:GARD_5659 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:narrowMatch OMIM:264300 semapv:UnspecifiedMatching +obo:GARD_5661 D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79315 semapv:UnspecifiedMatching +obo:GARD_5661 D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:600721 semapv:UnspecifiedMatching +obo:GARD_5661 D-2-hydroxyglutaric aciduria skos:narrowMatch OMIM:613657 semapv:UnspecifiedMatching +obo:GARD_5662 3-hydroxyisobutyric aciduria skos:exactMatch Orphanet:939 semapv:UnspecifiedMatching +obo:GARD_5662 3-hydroxyisobutyric aciduria skos:narrowMatch OMIM:236795 semapv:UnspecifiedMatching +obo:GARD_5663 3-methylglutaconic aciduria type 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching +obo:GARD_5663 3-methylglutaconic aciduria type 3 skos:narrowMatch OMIM:258501 semapv:UnspecifiedMatching +obo:GARD_5665 3-methylcrotonyl-coa carboxylase 1 deficiency skos:broadMatch Orphanet:6 semapv:UnspecifiedMatching +obo:GARD_5665 3-methylcrotonyl-coa carboxylase 1 deficiency skos:exactMatch OMIM:210200 semapv:UnspecifiedMatching +obo:GARD_5666 3C syndrome skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching +obo:GARD_5666 3C syndrome skos:narrowMatch OMIM:220210 semapv:UnspecifiedMatching +obo:GARD_5666 3C syndrome skos:narrowMatch OMIM:300963 semapv:UnspecifiedMatching +obo:GARD_5666 3C syndrome skos:narrowMatch OMIM:619135 semapv:UnspecifiedMatching +obo:GARD_5667 3M syndrome skos:exactMatch Orphanet:2616 semapv:UnspecifiedMatching +obo:GARD_5667 3M syndrome skos:narrowMatch OMIM:273750 semapv:UnspecifiedMatching +obo:GARD_5667 3M syndrome skos:narrowMatch OMIM:612921 semapv:UnspecifiedMatching +obo:GARD_5667 3M syndrome skos:narrowMatch OMIM:614205 semapv:UnspecifiedMatching +obo:GARD_5668 Hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching +obo:GARD_5668 Hawkinsinuria skos:narrowMatch OMIM:140350 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:233300 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:300510 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:614324 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:618078 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:618117 semapv:UnspecifiedMatching +obo:GARD_5671 46,XX gonadal dysgenesis skos:narrowMatch OMIM:618723 semapv:UnspecifiedMatching +obo:GARD_5672 Trisomy X skos:exactMatch Orphanet:3375 semapv:UnspecifiedMatching +obo:GARD_5674 47,XYY syndrome skos:exactMatch Orphanet:8 semapv:UnspecifiedMatching +obo:GARD_5676 48,XXXY syndrome skos:exactMatch Orphanet:96263 semapv:UnspecifiedMatching +obo:GARD_5677 48,XXYY syndrome skos:exactMatch Orphanet:10 semapv:UnspecifiedMatching +obo:GARD_5678 Pentasomy X skos:exactMatch Orphanet:11 semapv:UnspecifiedMatching +obo:GARD_5679 49,XXXXY syndrome skos:exactMatch Orphanet:96264 semapv:UnspecifiedMatching +obo:GARD_5680 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 semapv:UnspecifiedMatching +obo:GARD_5680 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:narrowMatch OMIM:264600 semapv:UnspecifiedMatching +obo:GARD_5681 5-oxoprolinase deficiency skos:exactMatch Orphanet:33572 semapv:UnspecifiedMatching +obo:GARD_5681 5-oxoprolinase deficiency skos:narrowMatch OMIM:260005 semapv:UnspecifiedMatching +obo:GARD_5682 6-pyruvoyl-tetrahydropterin synthase deficiency skos:exactMatch Orphanet:13 semapv:UnspecifiedMatching +obo:GARD_5682 6-pyruvoyl-tetrahydropterin synthase deficiency skos:narrowMatch OMIM:261640 semapv:UnspecifiedMatching +obo:GARD_5683 Smith-Lemli-Opitz syndrome skos:exactMatch Orphanet:818 semapv:UnspecifiedMatching +obo:GARD_5683 Smith-Lemli-Opitz syndrome skos:narrowMatch OMIM:270400 semapv:UnspecifiedMatching +obo:GARD_5686 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:exactMatch Orphanet:371 semapv:UnspecifiedMatching +obo:GARD_5686 Glycogen storage disease due to muscle phosphofructokinase deficiency skos:narrowMatch OMIM:232800 semapv:UnspecifiedMatching +obo:GARD_5688 Temtamy syndrome skos:exactMatch Orphanet:1777 semapv:UnspecifiedMatching +obo:GARD_5688 Temtamy syndrome skos:narrowMatch OMIM:218340 semapv:UnspecifiedMatching +obo:GARD_5691 Refsum disease skos:exactMatch Orphanet:773 semapv:UnspecifiedMatching +obo:GARD_5691 Refsum disease skos:narrowMatch OMIM:266500 semapv:UnspecifiedMatching +obo:GARD_5691 Refsum disease skos:narrowMatch OMIM:614879 semapv:UnspecifiedMatching +obo:GARD_5692 Partial androgen insensitivity syndrome skos:exactMatch Orphanet:90797 semapv:UnspecifiedMatching +obo:GARD_5692 Partial androgen insensitivity syndrome skos:narrowMatch OMIM:312300 semapv:UnspecifiedMatching +obo:GARD_5693 Reactive arthritis skos:exactMatch Orphanet:29207 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:180100 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:180104 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:180105 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:180210 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:268000 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:268025 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:268060 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:300029 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:300155 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:300424 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:300605 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:312600 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:312612 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:400004 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:600059 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:600105 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:600132 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:600138 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:600852 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:601414 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:601718 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:602594 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:602772 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:604232 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:604393 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:606068 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:607921 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:608133 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:608380 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:609913 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:609923 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:610282 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:610359 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:610599 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:611131 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:612095 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:612165 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:612572 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:612712 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:612943 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613194 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613341 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613428 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613464 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613575 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613581 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613582 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613617 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613660 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613731 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613750 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613756 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613758 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613767 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613769 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613794 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613801 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613809 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613810 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613827 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613861 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613862 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:613983 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:614180 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:614181 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:614494 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:614500 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:615233 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:615434 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:615565 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:615725 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:615780 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:615922 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:616188 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:616394 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:616469 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:616544 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:616562 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:617023 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:617123 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:617304 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:617433 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:617460 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:617781 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618173 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618195 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618220 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618345 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618613 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618697 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618826 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:618955 semapv:UnspecifiedMatching +obo:GARD_5694 Retinitis pigmentosa skos:narrowMatch OMIM:619007 semapv:UnspecifiedMatching +obo:GARD_5695 Retinopathy of prematurity skos:exactMatch Orphanet:90050 semapv:UnspecifiedMatching +obo:GARD_5695 Retinopathy of prematurity skos:narrowMatch OMIM:133780 semapv:UnspecifiedMatching +obo:GARD_5696 Rett syndrome skos:exactMatch Orphanet:778 semapv:UnspecifiedMatching +obo:GARD_5696 Rett syndrome skos:narrowMatch OMIM:312750 semapv:UnspecifiedMatching +obo:GARD_5697 Fibrosclerosis, multifocal skos:broadMatch Orphanet:49041 semapv:UnspecifiedMatching +obo:GARD_5697 Fibrosclerosis, multifocal skos:exactMatch OMIM:228800 semapv:UnspecifiedMatching +obo:GARD_5699 Rheumatic fever skos:exactMatch Orphanet:3099 semapv:UnspecifiedMatching +obo:GARD_5699 Rheumatic fever skos:narrowMatch OMIM:268240 semapv:UnspecifiedMatching +obo:GARD_5701 Axenfeld-Rieger syndrome skos:exactMatch Orphanet:782 semapv:UnspecifiedMatching +obo:GARD_5701 Axenfeld-Rieger syndrome skos:narrowMatch OMIM:180500 semapv:UnspecifiedMatching +obo:GARD_5701 Axenfeld-Rieger syndrome skos:narrowMatch OMIM:601499 semapv:UnspecifiedMatching +obo:GARD_5701 Axenfeld-Rieger syndrome skos:narrowMatch OMIM:602482 semapv:UnspecifiedMatching +obo:GARD_5708 Idiopathic achalasia skos:exactMatch Orphanet:930 semapv:UnspecifiedMatching +obo:GARD_5708 Idiopathic achalasia skos:narrowMatch OMIM:200400 semapv:UnspecifiedMatching +obo:GARD_5714 Glycogen storage disease due to acid maltase deficiency skos:exactMatch Orphanet:365 semapv:UnspecifiedMatching +obo:GARD_5714 Glycogen storage disease due to acid maltase deficiency skos:narrowMatch OMIM:232300 semapv:UnspecifiedMatching +obo:GARD_5721 Acrocallosal syndrome skos:exactMatch Orphanet:36 semapv:UnspecifiedMatching +obo:GARD_5721 Acrocallosal syndrome skos:narrowMatch OMIM:200990 semapv:UnspecifiedMatching +obo:GARD_5723 Acrodermatitis enteropathica skos:exactMatch Orphanet:37 semapv:UnspecifiedMatching +obo:GARD_5723 Acrodermatitis enteropathica skos:narrowMatch OMIM:201100 semapv:UnspecifiedMatching +obo:GARD_5724 Acrodysostosis skos:exactMatch Orphanet:950 semapv:UnspecifiedMatching +obo:GARD_5724 Acrodysostosis skos:narrowMatch OMIM:101800 semapv:UnspecifiedMatching +obo:GARD_5724 Acrodysostosis skos:narrowMatch OMIM:614613 semapv:UnspecifiedMatching +obo:GARD_5725 Acromegaly skos:exactMatch Orphanet:963 semapv:UnspecifiedMatching +obo:GARD_5725 Acromegaly skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +obo:GARD_5725 Acromegaly skos:narrowMatch OMIM:300943 semapv:UnspecifiedMatching +obo:GARD_5727 Congenital isolated ACTH deficiency skos:exactMatch Orphanet:199296 semapv:UnspecifiedMatching +obo:GARD_5727 Congenital isolated ACTH deficiency skos:narrowMatch OMIM:201400 semapv:UnspecifiedMatching +obo:GARD_5728 Actinomycosis skos:exactMatch Orphanet:457095 semapv:UnspecifiedMatching +obo:GARD_5732 Acute intermittent porphyria skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching +obo:GARD_5732 Acute intermittent porphyria skos:narrowMatch OMIM:176000 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:narrowMatch OMIM:100300 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:narrowMatch OMIM:614219 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:narrowMatch OMIM:614814 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:narrowMatch OMIM:615297 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:narrowMatch OMIM:616028 semapv:UnspecifiedMatching +obo:GARD_5739 Adams-Oliver syndrome skos:narrowMatch OMIM:616589 semapv:UnspecifiedMatching +obo:GARD_5740 Addison disease skos:exactMatch Orphanet:85138 semapv:UnspecifiedMatching +obo:GARD_5740 Addison disease skos:narrowMatch OMIM:103230 semapv:UnspecifiedMatching +obo:GARD_5740 Addison disease skos:narrowMatch OMIM:240200 semapv:UnspecifiedMatching +obo:GARD_5747 Ameloblastoma skos:exactMatch Orphanet:314419 semapv:UnspecifiedMatching +obo:GARD_5748 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 semapv:UnspecifiedMatching +obo:GARD_5748 Severe combined immunodeficiency due to adenosine deaminase deficiency skos:narrowMatch OMIM:102700 semapv:UnspecifiedMatching +obo:GARD_5749 Holmes-Adie syndrome skos:exactMatch Orphanet:454718 semapv:UnspecifiedMatching +obo:GARD_5749 Holmes-Adie syndrome skos:narrowMatch OMIM:103100 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:exactMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:114100 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:225750 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610181 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610329 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:610333 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:612952 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:615010 semapv:UnspecifiedMatching +obo:GARD_575 Aicardi-Goutières syndrome skos:narrowMatch OMIM:615846 semapv:UnspecifiedMatching +obo:GARD_5750 Adiposis dolorosa skos:exactMatch Orphanet:36397 semapv:UnspecifiedMatching +obo:GARD_5750 Adiposis dolorosa skos:narrowMatch OMIM:103200 semapv:UnspecifiedMatching +obo:GARD_5758 X-linked adrenoleukodystrophy skos:exactMatch Orphanet:43 semapv:UnspecifiedMatching +obo:GARD_5758 X-linked adrenoleukodystrophy skos:narrowMatch OMIM:300100 semapv:UnspecifiedMatching +obo:GARD_5758 X-linked adrenoleukodystrophy skos:narrowMatch OMIM:302700 semapv:UnspecifiedMatching +obo:GARD_5761 Familial afibrinogenemia skos:exactMatch Orphanet:98880 semapv:UnspecifiedMatching +obo:GARD_5761 Familial afibrinogenemia skos:narrowMatch OMIM:202400 semapv:UnspecifiedMatching +obo:GARD_5764 Aicardi syndrome skos:exactMatch Orphanet:50 semapv:UnspecifiedMatching +obo:GARD_5764 Aicardi syndrome skos:narrowMatch OMIM:304050 semapv:UnspecifiedMatching +obo:GARD_5770 Pseudohypoparathyroidism with Albright hereditary osteodystrophy skos:exactMatch Orphanet:457059 semapv:UnspecifiedMatching +obo:GARD_5774 Alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching +obo:GARD_5774 Alexander disease skos:narrowMatch OMIM:203450 semapv:UnspecifiedMatching +obo:GARD_5775 Alkaptonuria skos:exactMatch Orphanet:56 semapv:UnspecifiedMatching +obo:GARD_5775 Alkaptonuria skos:narrowMatch OMIM:203500 semapv:UnspecifiedMatching +obo:GARD_5783 Alpers-Huttenlocher syndrome skos:exactMatch Orphanet:726 semapv:UnspecifiedMatching +obo:GARD_5783 Alpers-Huttenlocher syndrome skos:narrowMatch OMIM:203700 semapv:UnspecifiedMatching +obo:GARD_5784 Alpha-1-antitrypsin deficiency skos:exactMatch Orphanet:60 semapv:UnspecifiedMatching +obo:GARD_5784 Alpha-1-antitrypsin deficiency skos:narrowMatch OMIM:613490 semapv:UnspecifiedMatching +obo:GARD_5785 Alport syndrome skos:exactMatch Orphanet:63 semapv:UnspecifiedMatching +obo:GARD_5785 Alport syndrome skos:narrowMatch OMIM:104200 semapv:UnspecifiedMatching +obo:GARD_5785 Alport syndrome skos:narrowMatch OMIM:203780 semapv:UnspecifiedMatching +obo:GARD_5785 Alport syndrome skos:narrowMatch OMIM:301050 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:105400 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:205250 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:300857 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:600795 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:606070 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:606640 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608030 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608031 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:608627 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:611895 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:612069 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:612577 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:613435 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:613954 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:614808 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:615426 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:615515 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:616208 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:616437 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:617839 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:617892 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:619133 semapv:UnspecifiedMatching +obo:GARD_5786 Amyotrophic lateral sclerosis skos:narrowMatch OMIM:619141 semapv:UnspecifiedMatching +obo:GARD_5787 Alström syndrome skos:exactMatch Orphanet:64 semapv:UnspecifiedMatching +obo:GARD_5787 Alström syndrome skos:narrowMatch OMIM:203800 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:exactMatch Orphanet:88661 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:104500 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:104510 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:104530 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:130900 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:204650 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:204700 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:301200 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:301201 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:612529 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:613211 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:614832 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:615887 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:616221 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:616270 semapv:UnspecifiedMatching +obo:GARD_5791 Amelogenesis imperfecta skos:narrowMatch OMIM:617217 semapv:UnspecifiedMatching +obo:GARD_5797 AL amyloidosis skos:exactMatch Orphanet:85443 semapv:UnspecifiedMatching +obo:GARD_5797 AL amyloidosis skos:narrowMatch OMIM:254500 semapv:UnspecifiedMatching +obo:GARD_5802 Otopalatodigital syndrome type 2 skos:exactMatch Orphanet:90652 semapv:UnspecifiedMatching +obo:GARD_5802 Otopalatodigital syndrome type 2 skos:narrowMatch OMIM:304120 semapv:UnspecifiedMatching +obo:GARD_5803 Androgen insensitivity syndrome skos:exactMatch Orphanet:754 semapv:UnspecifiedMatching +obo:GARD_5808 Isolated anencephaly/exencephaly skos:exactMatch Orphanet:1048 semapv:UnspecifiedMatching +obo:GARD_5808 Isolated anencephaly/exencephaly skos:narrowMatch OMIM:206500 semapv:UnspecifiedMatching +obo:GARD_5810 Angelman syndrome skos:exactMatch Orphanet:72 semapv:UnspecifiedMatching +obo:GARD_5810 Angelman syndrome skos:narrowMatch OMIM:105830 semapv:UnspecifiedMatching +obo:GARD_5816 Isolated aniridia skos:exactMatch Orphanet:250923 semapv:UnspecifiedMatching +obo:GARD_5816 Isolated aniridia skos:narrowMatch OMIM:106210 semapv:UnspecifiedMatching +obo:GARD_5816 Isolated aniridia skos:narrowMatch OMIM:617141 semapv:UnspecifiedMatching +obo:GARD_5816 Isolated aniridia skos:narrowMatch OMIM:617142 semapv:UnspecifiedMatching +obo:GARD_5818 Anodontia skos:exactMatch Orphanet:99797 semapv:UnspecifiedMatching +obo:GARD_5818 Anodontia skos:narrowMatch OMIM:206780 semapv:UnspecifiedMatching +obo:GARD_5819 Testicular agenesis skos:exactMatch Orphanet:325124 semapv:UnspecifiedMatching +obo:GARD_5824 Antiphospholipid syndrome skos:exactMatch Orphanet:80 semapv:UnspecifiedMatching +obo:GARD_5826 Antley-Bixler syndrome skos:exactMatch Orphanet:83 semapv:UnspecifiedMatching +obo:GARD_5826 Antley-Bixler syndrome skos:narrowMatch OMIM:207410 semapv:UnspecifiedMatching +obo:GARD_5828 Aorta coarctation skos:exactMatch Orphanet:1457 semapv:UnspecifiedMatching +obo:GARD_5828 Aorta coarctation skos:narrowMatch OMIM:120000 semapv:UnspecifiedMatching +obo:GARD_583 Short stature-webbed neck-heart disease syndrome skos:exactMatch Orphanet:2865 semapv:UnspecifiedMatching +obo:GARD_5833 Apert syndrome skos:exactMatch Orphanet:87 semapv:UnspecifiedMatching +obo:GARD_5833 Apert syndrome skos:narrowMatch OMIM:101200 semapv:UnspecifiedMatching +obo:GARD_5835 Aplasia cutis congenita skos:exactMatch Orphanet:1114 semapv:UnspecifiedMatching +obo:GARD_5835 Aplasia cutis congenita skos:narrowMatch OMIM:107600 semapv:UnspecifiedMatching +obo:GARD_5835 Aplasia cutis congenita skos:narrowMatch OMIM:600360 semapv:UnspecifiedMatching +obo:GARD_5836 Idiopathic aplastic anemia skos:exactMatch Orphanet:88 semapv:UnspecifiedMatching +obo:GARD_5836 Idiopathic aplastic anemia skos:narrowMatch OMIM:609135 semapv:UnspecifiedMatching +obo:GARD_5836 Idiopathic aplastic anemia skos:narrowMatch OMIM:614742 semapv:UnspecifiedMatching +obo:GARD_5836 Idiopathic aplastic anemia skos:narrowMatch OMIM:614743 semapv:UnspecifiedMatching +obo:GARD_5839 Arachnoiditis skos:exactMatch Orphanet:137817 semapv:UnspecifiedMatching +obo:GARD_5839 Arachnoiditis skos:narrowMatch OMIM:182950 semapv:UnspecifiedMatching +obo:GARD_584 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch Orphanet:2153 semapv:UnspecifiedMatching +obo:GARD_584 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:narrowMatch OMIM:235760 semapv:UnspecifiedMatching +obo:GARD_5840 Argininemia skos:exactMatch Orphanet:90 semapv:UnspecifiedMatching +obo:GARD_5840 Argininemia skos:narrowMatch OMIM:207800 semapv:UnspecifiedMatching +obo:GARD_5843 Argininosuccinic aciduria skos:exactMatch Orphanet:23 semapv:UnspecifiedMatching +obo:GARD_5843 Argininosuccinic aciduria skos:narrowMatch OMIM:207900 semapv:UnspecifiedMatching +obo:GARD_5847 Arrhythmogenic right ventricular cardiomyopathy skos:exactMatch Orphanet:247 semapv:UnspecifiedMatching +obo:GARD_5852 Asbestos intoxication skos:exactMatch Orphanet:2302 semapv:UnspecifiedMatching +obo:GARD_5853 Asherman syndrome skos:exactMatch Orphanet:137686 semapv:UnspecifiedMatching +obo:GARD_5854 Aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:UnspecifiedMatching +obo:GARD_5854 Aspartylglucosaminuria skos:narrowMatch OMIM:208400 semapv:UnspecifiedMatching +obo:GARD_5856 Aspergillosis skos:exactMatch Orphanet:1163 semapv:UnspecifiedMatching +obo:GARD_5856 Aspergillosis skos:narrowMatch OMIM:614079 semapv:UnspecifiedMatching +obo:GARD_5860 Anaplastic astrocytoma skos:exactMatch Orphanet:251589 semapv:UnspecifiedMatching +obo:GARD_5862 Ataxia-telangiectasia skos:exactMatch Orphanet:100 semapv:UnspecifiedMatching +obo:GARD_5862 Ataxia-telangiectasia skos:narrowMatch OMIM:208900 semapv:UnspecifiedMatching +obo:GARD_5862 Ataxia-telangiectasia skos:narrowMatch OMIM:208910 semapv:UnspecifiedMatching +obo:GARD_5864 Alpha-thalassemia-X-linked intellectual disability syndrome skos:exactMatch Orphanet:847 semapv:UnspecifiedMatching +obo:GARD_5864 Alpha-thalassemia-X-linked intellectual disability syndrome skos:narrowMatch OMIM:301040 semapv:UnspecifiedMatching +obo:GARD_5864 Alpha-thalassemia-X-linked intellectual disability syndrome skos:narrowMatch OMIM:309580 semapv:UnspecifiedMatching +obo:GARD_5865 Atrial septal defect, ostium secundum type skos:exactMatch Orphanet:99103 semapv:UnspecifiedMatching +obo:GARD_5865 Atrial septal defect, ostium secundum type skos:narrowMatch OMIM:611363 semapv:UnspecifiedMatching +obo:GARD_5865 Atrial septal defect, ostium secundum type skos:narrowMatch OMIM:614089 semapv:UnspecifiedMatching +obo:GARD_5865 Atrial septal defect, ostium secundum type skos:narrowMatch OMIM:614430 semapv:UnspecifiedMatching +obo:GARD_5867 Localized lipodystrophy skos:exactMatch Orphanet:79088 semapv:UnspecifiedMatching +obo:GARD_587 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch Orphanet:2773 semapv:UnspecifiedMatching +obo:GARD_5870 Autoimmune hemolytic anemia skos:exactMatch Orphanet:98375 semapv:UnspecifiedMatching +obo:GARD_5871 Autoimmune hepatitis skos:exactMatch Orphanet:2137 semapv:UnspecifiedMatching +obo:GARD_5878 Babesiosis skos:exactMatch Orphanet:108 semapv:UnspecifiedMatching +obo:GARD_588 Alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch Orphanet:2007 semapv:UnspecifiedMatching +obo:GARD_588 Alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:narrowMatch OMIM:203000 semapv:UnspecifiedMatching +obo:GARD_5885 Baló concentric sclerosis skos:exactMatch Orphanet:228165 semapv:UnspecifiedMatching +obo:GARD_5887 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch Orphanet:109 semapv:UnspecifiedMatching +obo:GARD_5887 Bannayan-Riley-Ruvalcaba syndrome skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +obo:GARD_589 Albinism-deafness syndrome skos:exactMatch Orphanet:998 semapv:UnspecifiedMatching +obo:GARD_589 Albinism-deafness syndrome skos:narrowMatch OMIM:300700 semapv:UnspecifiedMatching +obo:GARD_5890 Barth syndrome skos:exactMatch Orphanet:111 semapv:UnspecifiedMatching +obo:GARD_5890 Barth syndrome skos:narrowMatch OMIM:302060 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:241200 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:300971 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:601198 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:601678 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:602522 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:607364 semapv:UnspecifiedMatching +obo:GARD_5893 Bartter syndrome skos:narrowMatch OMIM:613090 semapv:UnspecifiedMatching +obo:GARD_5897 CLN3 disease skos:exactMatch Orphanet:228346 semapv:UnspecifiedMatching +obo:GARD_5897 CLN3 disease skos:narrowMatch OMIM:204200 semapv:UnspecifiedMatching +obo:GARD_5898 Congenital myopathy skos:exactMatch Orphanet:97245 semapv:UnspecifiedMatching +obo:GARD_5899 Congenital contractural arachnodactyly skos:exactMatch Orphanet:115 semapv:UnspecifiedMatching +obo:GARD_5899 Congenital contractural arachnodactyly skos:narrowMatch OMIM:121050 semapv:UnspecifiedMatching +obo:GARD_59 Spinocerebellar ataxia type 34 skos:exactMatch Orphanet:1955 semapv:UnspecifiedMatching +obo:GARD_59 Spinocerebellar ataxia type 34 skos:narrowMatch OMIM:133190 semapv:UnspecifiedMatching +obo:GARD_5900 Becker muscular dystrophy skos:exactMatch Orphanet:98895 semapv:UnspecifiedMatching +obo:GARD_5900 Becker muscular dystrophy skos:narrowMatch OMIM:159050 semapv:UnspecifiedMatching +obo:GARD_5900 Becker muscular dystrophy skos:narrowMatch OMIM:300376 semapv:UnspecifiedMatching +obo:GARD_5907 Diffuse astrocytoma skos:exactMatch Orphanet:251595 semapv:UnspecifiedMatching +obo:GARD_5913 Mucous membrane pemphigoid skos:exactMatch Orphanet:46486 semapv:UnspecifiedMatching +obo:GARD_5913 Mucous membrane pemphigoid skos:narrowMatch OMIM:164185 semapv:UnspecifiedMatching +obo:GARD_592 Ocular albinism with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching +obo:GARD_592 Ocular albinism with late-onset sensorineural deafness skos:narrowMatch OMIM:300650 semapv:UnspecifiedMatching +obo:GARD_5926 Birdshot chorioretinopathy skos:exactMatch Orphanet:179 semapv:UnspecifiedMatching +obo:GARD_5926 Birdshot chorioretinopathy skos:narrowMatch OMIM:605808 semapv:UnspecifiedMatching +obo:GARD_5939 Blue diaper syndrome skos:exactMatch Orphanet:94086 semapv:UnspecifiedMatching +obo:GARD_5939 Blue diaper syndrome skos:narrowMatch OMIM:211000 semapv:UnspecifiedMatching +obo:GARD_594 Oculocutaneous albinism type 1B skos:exactMatch Orphanet:79434 semapv:UnspecifiedMatching +obo:GARD_594 Oculocutaneous albinism type 1B skos:narrowMatch OMIM:606952 semapv:UnspecifiedMatching +obo:GARD_5940 Blue rubber bleb nevus skos:exactMatch Orphanet:1059 semapv:UnspecifiedMatching +obo:GARD_5940 Blue rubber bleb nevus skos:narrowMatch OMIM:112200 semapv:UnspecifiedMatching +obo:GARD_5950 Bowen-Conradi syndrome skos:exactMatch Orphanet:1270 semapv:UnspecifiedMatching +obo:GARD_5950 Bowen-Conradi syndrome skos:narrowMatch OMIM:211180 semapv:UnspecifiedMatching +obo:GARD_5961 Bronchiolitis obliterans with obstructive pulmonary disease skos:exactMatch Orphanet:1303 semapv:UnspecifiedMatching +obo:GARD_5962 Bronchopulmonary dysplasia skos:exactMatch Orphanet:70589 semapv:UnspecifiedMatching +obo:GARD_5966 Brucellosis skos:exactMatch Orphanet:1304 semapv:UnspecifiedMatching +obo:GARD_5968 Budd-Chiari syndrome skos:exactMatch Orphanet:131 semapv:UnspecifiedMatching +obo:GARD_5968 Budd-Chiari syndrome skos:narrowMatch OMIM:600880 semapv:UnspecifiedMatching +obo:GARD_5969 Buerger disease skos:exactMatch Orphanet:36258 semapv:UnspecifiedMatching +obo:GARD_5969 Buerger disease skos:narrowMatch OMIM:211480 semapv:UnspecifiedMatching +obo:GARD_5972 Bullous pemphigoid skos:exactMatch Orphanet:703 semapv:UnspecifiedMatching +obo:GARD_5973 Burkitt lymphoma skos:exactMatch Orphanet:543 semapv:UnspecifiedMatching +obo:GARD_5973 Burkitt lymphoma skos:narrowMatch OMIM:113970 semapv:UnspecifiedMatching +obo:GARD_5974 Burning mouth syndrome skos:exactMatch Orphanet:353253 semapv:UnspecifiedMatching +obo:GARD_5975 Scleredema skos:exactMatch Orphanet:352763 semapv:UnspecifiedMatching +obo:GARD_5978 C syndrome skos:exactMatch Orphanet:1308 semapv:UnspecifiedMatching +obo:GARD_5978 C syndrome skos:narrowMatch OMIM:211750 semapv:UnspecifiedMatching +obo:GARD_5979 Hereditary angioedema skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching +obo:GARD_5979 Hereditary angioedema skos:narrowMatch OMIM:106100 semapv:UnspecifiedMatching +obo:GARD_5979 Hereditary angioedema skos:narrowMatch OMIM:610618 semapv:UnspecifiedMatching +obo:GARD_5980 Calciphylaxis skos:exactMatch Orphanet:280062 semapv:UnspecifiedMatching +obo:GARD_5984 Canavan disease skos:exactMatch Orphanet:141 semapv:UnspecifiedMatching +obo:GARD_5984 Canavan disease skos:narrowMatch OMIM:271900 semapv:UnspecifiedMatching +obo:GARD_599 Fetal alcohol syndrome skos:exactMatch Orphanet:1915 semapv:UnspecifiedMatching +obo:GARD_5993 Osteopetrosis, autosomal recessive 4 skos:broadMatch Orphanet:667 semapv:UnspecifiedMatching +obo:GARD_5993 Osteopetrosis, autosomal recessive 4 skos:exactMatch OMIM:611490 semapv:UnspecifiedMatching +obo:GARD_5994 Carcinoid syndrome skos:exactMatch Orphanet:100093 semapv:UnspecifiedMatching +obo:GARD_6 Acromesomelic dysplasia skos:exactMatch Orphanet:93437 semapv:UnspecifiedMatching +obo:GARD_60 Iridocorneal endothelial syndrome skos:exactMatch Orphanet:64734 semapv:UnspecifiedMatching +obo:GARD_600 Glycogen storage disease due to aldolase A deficiency skos:exactMatch Orphanet:57 semapv:UnspecifiedMatching +obo:GARD_600 Glycogen storage disease due to aldolase A deficiency skos:narrowMatch OMIM:611881 semapv:UnspecifiedMatching +obo:GARD_6001 Carnosinase deficiency skos:exactMatch Orphanet:1361 semapv:UnspecifiedMatching +obo:GARD_6001 Carnosinase deficiency skos:narrowMatch OMIM:212200 semapv:UnspecifiedMatching +obo:GARD_6002 Caroli disease skos:exactMatch Orphanet:53035 semapv:UnspecifiedMatching +obo:GARD_6002 Caroli disease skos:narrowMatch OMIM:600643 semapv:UnspecifiedMatching +obo:GARD_6003 Carpenter syndrome skos:exactMatch Orphanet:65759 semapv:UnspecifiedMatching +obo:GARD_6003 Carpenter syndrome skos:narrowMatch OMIM:201000 semapv:UnspecifiedMatching +obo:GARD_6003 Carpenter syndrome skos:narrowMatch OMIM:614976 semapv:UnspecifiedMatching +obo:GARD_6005 Unicentric Castleman disease skos:exactMatch Orphanet:93685 semapv:UnspecifiedMatching +obo:GARD_6007 Caudal regression syndrome skos:exactMatch Orphanet:3027 semapv:UnspecifiedMatching +obo:GARD_6007 Caudal regression syndrome skos:narrowMatch OMIM:600145 semapv:UnspecifiedMatching +obo:GARD_6010 Macrocystic lymphatic malformation skos:exactMatch Orphanet:79489 semapv:UnspecifiedMatching +obo:GARD_6011 Bilateral perisylvian polymicrogyria skos:exactMatch Orphanet:98889 semapv:UnspecifiedMatching +obo:GARD_6011 Bilateral perisylvian polymicrogyria skos:narrowMatch OMIM:300388 semapv:UnspecifiedMatching +obo:GARD_6011 Bilateral perisylvian polymicrogyria skos:narrowMatch OMIM:615752 semapv:UnspecifiedMatching +obo:GARD_6011 Bilateral perisylvian polymicrogyria skos:narrowMatch OMIM:616531 semapv:UnspecifiedMatching +obo:GARD_6014 Central core disease skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching +obo:GARD_6014 Central core disease skos:narrowMatch OMIM:117000 semapv:UnspecifiedMatching +obo:GARD_6015 Central diabetes insipidus skos:exactMatch Orphanet:178029 semapv:UnspecifiedMatching +obo:GARD_6015 Central diabetes insipidus skos:narrowMatch OMIM:125700 semapv:UnspecifiedMatching +obo:GARD_6015 Central diabetes insipidus skos:narrowMatch OMIM:304900 semapv:UnspecifiedMatching +obo:GARD_602 Allergic bronchopulmonary aspergillosis skos:exactMatch Orphanet:1164 semapv:UnspecifiedMatching +obo:GARD_602 Allergic bronchopulmonary aspergillosis skos:narrowMatch OMIM:103920 semapv:UnspecifiedMatching +obo:GARD_6026 Cerebrocostomandibular syndrome skos:exactMatch Orphanet:1393 semapv:UnspecifiedMatching +obo:GARD_6026 Cerebrocostomandibular syndrome skos:narrowMatch OMIM:117650 semapv:UnspecifiedMatching +obo:GARD_6027 COFS syndrome skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching +obo:GARD_6027 COFS syndrome skos:narrowMatch OMIM:214150 semapv:UnspecifiedMatching +obo:GARD_6027 COFS syndrome skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +obo:GARD_6027 COFS syndrome skos:narrowMatch OMIM:610756 semapv:UnspecifiedMatching +obo:GARD_6027 COFS syndrome skos:narrowMatch OMIM:610758 semapv:UnspecifiedMatching +obo:GARD_6027 COFS syndrome skos:narrowMatch OMIM:616570 semapv:UnspecifiedMatching +obo:GARD_6033 Chandler syndrome skos:exactMatch Orphanet:98979 semapv:UnspecifiedMatching +obo:GARD_6034 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy skos:exactMatch Orphanet:166 semapv:UnspecifiedMatching +obo:GARD_6035 Chédiak-Higashi syndrome skos:exactMatch Orphanet:167 semapv:UnspecifiedMatching +obo:GARD_6035 Chédiak-Higashi syndrome skos:narrowMatch OMIM:214500 semapv:UnspecifiedMatching +obo:GARD_6036 Cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching +obo:GARD_6036 Cherubism skos:narrowMatch OMIM:118400 semapv:UnspecifiedMatching +obo:GARD_6038 Chikungunya skos:exactMatch Orphanet:324625 semapv:UnspecifiedMatching +obo:GARD_6039 CHILD syndrome skos:exactMatch Orphanet:139 semapv:UnspecifiedMatching +obo:GARD_6039 CHILD syndrome skos:narrowMatch OMIM:308050 semapv:UnspecifiedMatching +obo:GARD_604 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching +obo:GARD_604 Autosomal dominant palmoplantar keratoderma and congenital alopecia skos:narrowMatch OMIM:104100 semapv:UnspecifiedMatching +obo:GARD_6040 Childhood disintegrative disorder skos:exactMatch Orphanet:168782 semapv:UnspecifiedMatching +obo:GARD_6043 Cholera skos:exactMatch Orphanet:173 semapv:UnspecifiedMatching +obo:GARD_6048 Chondrocalcinosis 1 skos:broadMatch Orphanet:1416 semapv:UnspecifiedMatching +obo:GARD_6048 Chondrocalcinosis 1 skos:exactMatch OMIM:600668 semapv:UnspecifiedMatching +obo:GARD_6049 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch Orphanet:309789 semapv:UnspecifiedMatching +obo:GARD_6049 Rhizomelic chondrodysplasia punctata type 1 skos:narrowMatch OMIM:215100 semapv:UnspecifiedMatching +obo:GARD_605 Alopecia-contractures-dwarfism-intellectual disability syndrome skos:exactMatch Orphanet:1005 semapv:UnspecifiedMatching +obo:GARD_605 Alopecia-contractures-dwarfism-intellectual disability syndrome skos:narrowMatch OMIM:203550 semapv:UnspecifiedMatching +obo:GARD_6055 Chondrosarcoma skos:exactMatch Orphanet:55880 semapv:UnspecifiedMatching +obo:GARD_6055 Chondrosarcoma skos:narrowMatch OMIM:215300 semapv:UnspecifiedMatching +obo:GARD_606 Moynahan syndrome skos:exactMatch Orphanet:2574 semapv:UnspecifiedMatching +obo:GARD_606 Moynahan syndrome skos:narrowMatch OMIM:203600 semapv:UnspecifiedMatching +obo:GARD_6061 Choroideremia skos:exactMatch Orphanet:180 semapv:UnspecifiedMatching +obo:GARD_6061 Choroideremia skos:narrowMatch OMIM:303100 semapv:UnspecifiedMatching +obo:GARD_6064 Chromophobe renal cell carcinoma skos:exactMatch Orphanet:319303 semapv:UnspecifiedMatching +obo:GARD_6069 Ring chromosome 13 syndrome skos:exactMatch Orphanet:96176 semapv:UnspecifiedMatching +obo:GARD_607 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch Orphanet:1008 semapv:UnspecifiedMatching +obo:GARD_607 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:narrowMatch OMIM:104130 semapv:UnspecifiedMatching +obo:GARD_6072 Ring chromosome 14 syndrome skos:exactMatch Orphanet:1440 semapv:UnspecifiedMatching +obo:GARD_6072 Ring chromosome 14 syndrome skos:narrowMatch OMIM:616606 semapv:UnspecifiedMatching +obo:GARD_6077 Ring chromosome 18 syndrome skos:exactMatch Orphanet:1442 semapv:UnspecifiedMatching +obo:GARD_6082 1p36 deletion syndrome skos:exactMatch Orphanet:1606 semapv:UnspecifiedMatching +obo:GARD_6082 1p36 deletion syndrome skos:narrowMatch OMIM:607872 semapv:UnspecifiedMatching +obo:GARD_6082 1p36 deletion syndrome skos:narrowMatch OMIM:616975 semapv:UnspecifiedMatching +obo:GARD_6083 Ring chromosome 21 syndrome skos:exactMatch Orphanet:1445 semapv:UnspecifiedMatching +obo:GARD_6085 Mosaic trisomy 22 skos:exactMatch Orphanet:96068 semapv:UnspecifiedMatching +obo:GARD_6091 Trisomy 4p skos:exactMatch Orphanet:1738 semapv:UnspecifiedMatching +obo:GARD_6093 Trisomy 5p skos:exactMatch Orphanet:1742 semapv:UnspecifiedMatching +obo:GARD_6095 Ring chromosome 6 syndrome skos:exactMatch Orphanet:1448 semapv:UnspecifiedMatching +obo:GARD_61 Femoral-facial syndrome skos:exactMatch Orphanet:1988 semapv:UnspecifiedMatching +obo:GARD_61 Femoral-facial syndrome skos:narrowMatch OMIM:134780 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:narrowMatch OMIM:233690 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:narrowMatch OMIM:233700 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:narrowMatch OMIM:233710 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:narrowMatch OMIM:306400 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:narrowMatch OMIM:613960 semapv:UnspecifiedMatching +obo:GARD_6100 Chronic granulomatous disease skos:narrowMatch OMIM:618935 semapv:UnspecifiedMatching +obo:GARD_6102 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:2932 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:exactMatch Orphanet:67038 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:109543 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:151400 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:609630 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612557 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612558 semapv:UnspecifiedMatching +obo:GARD_6104 B-cell chronic lymphocytic leukemia skos:narrowMatch OMIM:612559 semapv:UnspecifiedMatching +obo:GARD_6105 Chronic myeloid leukemia skos:exactMatch Orphanet:521 semapv:UnspecifiedMatching +obo:GARD_6105 Chronic myeloid leukemia skos:narrowMatch OMIM:608232 semapv:UnspecifiedMatching +obo:GARD_6107 Neutropenia, lethal congenital, with eosinophilia skos:broadMatch Orphanet:486 semapv:UnspecifiedMatching +obo:GARD_6107 Neutropenia, lethal congenital, with eosinophilia skos:exactMatch OMIM:257100 semapv:UnspecifiedMatching +obo:GARD_6108 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching +obo:GARD_6108 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis skos:narrowMatch OMIM:259680 semapv:UnspecifiedMatching +obo:GARD_6111 Eosinophilic granulomatosis with polyangiitis skos:exactMatch Orphanet:183 semapv:UnspecifiedMatching +obo:GARD_6114 Citrullinemia type I skos:exactMatch Orphanet:247525 semapv:UnspecifiedMatching +obo:GARD_6114 Citrullinemia type I skos:narrowMatch OMIM:215700 semapv:UnspecifiedMatching +obo:GARD_6118 Cleidocranial dysplasia skos:exactMatch Orphanet:1452 semapv:UnspecifiedMatching +obo:GARD_6118 Cleidocranial dysplasia skos:narrowMatch OMIM:119600 semapv:UnspecifiedMatching +obo:GARD_6118 Cleidocranial dysplasia skos:narrowMatch OMIM:216330 semapv:UnspecifiedMatching +obo:GARD_612 Alopecia-intellectual disability syndrome skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching +obo:GARD_612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:203650 semapv:UnspecifiedMatching +obo:GARD_612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:610422 semapv:UnspecifiedMatching +obo:GARD_612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:613930 semapv:UnspecifiedMatching +obo:GARD_612 Alopecia-intellectual disability syndrome skos:narrowMatch OMIM:618840 semapv:UnspecifiedMatching +obo:GARD_6121 Coats disease skos:exactMatch Orphanet:190 semapv:UnspecifiedMatching +obo:GARD_6121 Coats disease skos:narrowMatch OMIM:300216 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:133540 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:214150 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:216400 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:610756 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:610758 semapv:UnspecifiedMatching +obo:GARD_6122 Cockayne syndrome skos:narrowMatch OMIM:616570 semapv:UnspecifiedMatching +obo:GARD_6123 Coffin-Lowry syndrome skos:exactMatch Orphanet:192 semapv:UnspecifiedMatching +obo:GARD_6123 Coffin-Lowry syndrome skos:narrowMatch OMIM:303600 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:135900 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:614607 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:614608 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:614609 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:615866 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:616938 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:617808 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618027 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618362 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618506 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:618779 semapv:UnspecifiedMatching +obo:GARD_6124 Coffin-Siris syndrome skos:narrowMatch OMIM:619325 semapv:UnspecifiedMatching +obo:GARD_6125 Cogan-Reese syndrome skos:exactMatch Orphanet:98980 semapv:UnspecifiedMatching +obo:GARD_6126 Cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching +obo:GARD_6126 Cohen syndrome skos:narrowMatch OMIM:216550 semapv:UnspecifiedMatching +obo:GARD_613 Alopecia totalis skos:exactMatch Orphanet:700 semapv:UnspecifiedMatching +obo:GARD_613 Alopecia totalis skos:narrowMatch OMIM:104000 semapv:UnspecifiedMatching +obo:GARD_613 Alopecia totalis skos:narrowMatch OMIM:300042 semapv:UnspecifiedMatching +obo:GARD_613 Alopecia totalis skos:narrowMatch OMIM:610753 semapv:UnspecifiedMatching +obo:GARD_6130 Cold agglutinin disease skos:exactMatch Orphanet:56425 semapv:UnspecifiedMatching +obo:GARD_614 Alopecia universalis skos:exactMatch Orphanet:701 semapv:UnspecifiedMatching +obo:GARD_614 Alopecia universalis skos:narrowMatch OMIM:104000 semapv:UnspecifiedMatching +obo:GARD_614 Alopecia universalis skos:narrowMatch OMIM:203655 semapv:UnspecifiedMatching +obo:GARD_614 Alopecia universalis skos:narrowMatch OMIM:610753 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:146830 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:240500 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:607594 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:613493 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:613494 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:613495 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:613496 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:614699 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:615577 semapv:UnspecifiedMatching +obo:GARD_6140 Common variable immunodeficiency skos:narrowMatch OMIM:616576 semapv:UnspecifiedMatching +obo:GARD_6145 Cone-rod dystrophy 2 skos:broadMatch Orphanet:1872 semapv:UnspecifiedMatching +obo:GARD_6145 Cone-rod dystrophy 2 skos:exactMatch OMIM:120970 semapv:UnspecifiedMatching +obo:GARD_6148 Hereditary thrombophilia due to congenital antithrombin deficiency skos:exactMatch Orphanet:82 semapv:UnspecifiedMatching +obo:GARD_6148 Hereditary thrombophilia due to congenital antithrombin deficiency skos:narrowMatch OMIM:613118 semapv:UnspecifiedMatching +obo:GARD_6161 Congenital fiber-type disproportion myopathy skos:exactMatch Orphanet:2020 semapv:UnspecifiedMatching +obo:GARD_6161 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:255310 semapv:UnspecifiedMatching +obo:GARD_6161 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:300580 semapv:UnspecifiedMatching +obo:GARD_6161 Congenital fiber-type disproportion myopathy skos:narrowMatch OMIM:617760 semapv:UnspecifiedMatching +obo:GARD_6164 Congenital heart block skos:exactMatch Orphanet:60041 semapv:UnspecifiedMatching +obo:GARD_6164 Congenital heart block skos:narrowMatch OMIM:234700 semapv:UnspecifiedMatching +obo:GARD_6168 Polycystic kidney disease 4 with or without polycystic liver disease skos:broadMatch Orphanet:731 semapv:UnspecifiedMatching +obo:GARD_6168 Polycystic kidney disease 4 with or without polycystic liver disease skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching +obo:GARD_6169 Hepatoerythropoietic porphyria skos:exactMatch Orphanet:95159 semapv:UnspecifiedMatching +obo:GARD_6169 Hepatoerythropoietic porphyria skos:narrowMatch OMIM:176100 semapv:UnspecifiedMatching +obo:GARD_617 Oxoglutaric aciduria skos:exactMatch Orphanet:31 semapv:UnspecifiedMatching +obo:GARD_617 Oxoglutaric aciduria skos:narrowMatch OMIM:203740 semapv:UnspecifiedMatching +obo:GARD_6176 Myotonia congenita, autosomal dominant skos:broadMatch Orphanet:614 semapv:UnspecifiedMatching +obo:GARD_6176 Myotonia congenita, autosomal dominant skos:exactMatch OMIM:160800 semapv:UnspecifiedMatching +obo:GARD_6189 X-linked dominant chondrodysplasia punctata skos:exactMatch Orphanet:35173 semapv:UnspecifiedMatching +obo:GARD_6189 X-linked dominant chondrodysplasia punctata skos:narrowMatch OMIM:302960 semapv:UnspecifiedMatching +obo:GARD_6194 Triatrial heart skos:exactMatch Orphanet:1463 semapv:UnspecifiedMatching +obo:GARD_6196 Congenital hereditary endothelial dystrophy type II skos:exactMatch Orphanet:293603 semapv:UnspecifiedMatching +obo:GARD_6196 Congenital hereditary endothelial dystrophy type II skos:narrowMatch OMIM:217700 semapv:UnspecifiedMatching +obo:GARD_62 Filippi syndrome skos:exactMatch Orphanet:3255 semapv:UnspecifiedMatching +obo:GARD_62 Filippi syndrome skos:narrowMatch OMIM:272440 semapv:UnspecifiedMatching +obo:GARD_6202 Cowden syndrome skos:exactMatch Orphanet:201 semapv:UnspecifiedMatching +obo:GARD_6202 Cowden syndrome skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +obo:GARD_6202 Cowden syndrome skos:narrowMatch OMIM:615107 semapv:UnspecifiedMatching +obo:GARD_6202 Cowden syndrome skos:narrowMatch OMIM:615108 semapv:UnspecifiedMatching +obo:GARD_6202 Cowden syndrome skos:narrowMatch OMIM:615109 semapv:UnspecifiedMatching +obo:GARD_6202 Cowden syndrome skos:narrowMatch OMIM:616858 semapv:UnspecifiedMatching +obo:GARD_6205 Cramp-fasciculation syndrome skos:exactMatch Orphanet:581271 semapv:UnspecifiedMatching +obo:GARD_6206 Crouzon syndrome skos:exactMatch Orphanet:207 semapv:UnspecifiedMatching +obo:GARD_6206 Crouzon syndrome skos:narrowMatch OMIM:123500 semapv:UnspecifiedMatching +obo:GARD_6209 Craniosynostosis skos:exactMatch Orphanet:1531 semapv:UnspecifiedMatching +obo:GARD_621 Alpha-thalassemia skos:exactMatch Orphanet:846 semapv:UnspecifiedMatching +obo:GARD_621 Alpha-thalassemia skos:narrowMatch OMIM:604131 semapv:UnspecifiedMatching +obo:GARD_6213 Monosomy 5p skos:exactMatch Orphanet:281 semapv:UnspecifiedMatching +obo:GARD_6213 Monosomy 5p skos:narrowMatch OMIM:123450 semapv:UnspecifiedMatching +obo:GARD_6217 Simple cryoglobulinemia skos:exactMatch Orphanet:91139 semapv:UnspecifiedMatching +obo:GARD_6218 Cryptococcosis skos:exactMatch Orphanet:1546 semapv:UnspecifiedMatching +obo:GARD_6224 Cushing syndrome skos:exactMatch Orphanet:553 semapv:UnspecifiedMatching +obo:GARD_6225 Rare cutaneous lupus erythematosus skos:exactMatch Orphanet:535 semapv:UnspecifiedMatching +obo:GARD_6226 Primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:171901 semapv:UnspecifiedMatching +obo:GARD_6227 Cutis laxa skos:exactMatch Orphanet:209 semapv:UnspecifiedMatching +obo:GARD_6228 Cutis marmorata telangiectatica congenita skos:exactMatch Orphanet:1556 semapv:UnspecifiedMatching +obo:GARD_6228 Cutis marmorata telangiectatica congenita skos:narrowMatch OMIM:219250 semapv:UnspecifiedMatching +obo:GARD_6229 Cyclic neutropenia skos:exactMatch Orphanet:2686 semapv:UnspecifiedMatching +obo:GARD_6229 Cyclic neutropenia skos:narrowMatch OMIM:162800 semapv:UnspecifiedMatching +obo:GARD_6233 Cystic fibrosis skos:exactMatch Orphanet:586 semapv:UnspecifiedMatching +obo:GARD_6233 Cystic fibrosis skos:narrowMatch OMIM:219700 semapv:UnspecifiedMatching +obo:GARD_6236 Cystinosis skos:exactMatch Orphanet:213 semapv:UnspecifiedMatching +obo:GARD_6236 Cystinosis skos:narrowMatch OMIM:219750 semapv:UnspecifiedMatching +obo:GARD_6236 Cystinosis skos:narrowMatch OMIM:219800 semapv:UnspecifiedMatching +obo:GARD_6236 Cystinosis skos:narrowMatch OMIM:219900 semapv:UnspecifiedMatching +obo:GARD_6237 Cystinuria skos:exactMatch Orphanet:214 semapv:UnspecifiedMatching +obo:GARD_6237 Cystinuria skos:narrowMatch OMIM:220100 semapv:UnspecifiedMatching +obo:GARD_624 Autosomal dominant Alport syndrome skos:exactMatch Orphanet:88918 semapv:UnspecifiedMatching +obo:GARD_624 Autosomal dominant Alport syndrome skos:narrowMatch OMIM:104200 semapv:UnspecifiedMatching +obo:GARD_6242 Isolated Dandy-Walker malformation skos:exactMatch Orphanet:217 semapv:UnspecifiedMatching +obo:GARD_6242 Isolated Dandy-Walker malformation skos:narrowMatch OMIM:220200 semapv:UnspecifiedMatching +obo:GARD_6243 Darier disease skos:exactMatch Orphanet:218 semapv:UnspecifiedMatching +obo:GARD_6243 Darier disease skos:narrowMatch OMIM:124200 semapv:UnspecifiedMatching +obo:GARD_6249 Malignant atrophic papulosis skos:exactMatch Orphanet:679 semapv:UnspecifiedMatching +obo:GARD_6249 Malignant atrophic papulosis skos:narrowMatch OMIM:602248 semapv:UnspecifiedMatching +obo:GARD_625 Autosomal recessive Alport syndrome skos:exactMatch Orphanet:88919 semapv:UnspecifiedMatching +obo:GARD_625 Autosomal recessive Alport syndrome skos:narrowMatch OMIM:203780 semapv:UnspecifiedMatching +obo:GARD_6254 Dengue fever skos:exactMatch Orphanet:99828 semapv:UnspecifiedMatching +obo:GARD_6254 Dengue fever skos:narrowMatch OMIM:614371 semapv:UnspecifiedMatching +obo:GARD_6258 Dentinogenesis imperfecta skos:exactMatch Orphanet:49042 semapv:UnspecifiedMatching +obo:GARD_6263 Dermatomyositis skos:exactMatch Orphanet:221 semapv:UnspecifiedMatching +obo:GARD_6265 Desmoplastic small round cell tumor skos:exactMatch Orphanet:83469 semapv:UnspecifiedMatching +obo:GARD_6267 Neuromyelitis optica spectrum disorder skos:exactMatch Orphanet:71211 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:105650 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:300946 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:606129 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:606164 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:610629 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612527 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612528 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612561 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612562 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:612563 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:613308 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:613309 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:614900 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:615550 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:615909 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:617408 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:617409 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:618310 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:618312 semapv:UnspecifiedMatching +obo:GARD_6274 Blackfan-Diamond anemia skos:narrowMatch OMIM:618313 semapv:UnspecifiedMatching +obo:GARD_6275 Diastrophic dysplasia skos:exactMatch Orphanet:628 semapv:UnspecifiedMatching +obo:GARD_6275 Diastrophic dysplasia skos:narrowMatch OMIM:222600 semapv:UnspecifiedMatching +obo:GARD_6276 Diencephalic syndrome skos:exactMatch Orphanet:1672 semapv:UnspecifiedMatching +obo:GARD_6286 Dracunculiasis skos:exactMatch Orphanet:231 semapv:UnspecifiedMatching +obo:GARD_6288 Duane retraction syndrome skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching +obo:GARD_6288 Duane retraction syndrome skos:narrowMatch OMIM:126800 semapv:UnspecifiedMatching +obo:GARD_6288 Duane retraction syndrome skos:narrowMatch OMIM:604356 semapv:UnspecifiedMatching +obo:GARD_6288 Duane retraction syndrome skos:narrowMatch OMIM:616219 semapv:UnspecifiedMatching +obo:GARD_6288 Duane retraction syndrome skos:narrowMatch OMIM:617041 semapv:UnspecifiedMatching +obo:GARD_6290 Dubowitz syndrome skos:exactMatch Orphanet:235 semapv:UnspecifiedMatching +obo:GARD_6290 Dubowitz syndrome skos:narrowMatch OMIM:223370 semapv:UnspecifiedMatching +obo:GARD_6291 Duchenne muscular dystrophy skos:exactMatch Orphanet:98896 semapv:UnspecifiedMatching +obo:GARD_6291 Duchenne muscular dystrophy skos:narrowMatch OMIM:310200 semapv:UnspecifiedMatching +obo:GARD_6295 Dyggve-Melchior-Clausen disease skos:exactMatch Orphanet:239 semapv:UnspecifiedMatching +obo:GARD_6295 Dyggve-Melchior-Clausen disease skos:narrowMatch OMIM:223800 semapv:UnspecifiedMatching +obo:GARD_6295 Dyggve-Melchior-Clausen disease skos:narrowMatch OMIM:304950 semapv:UnspecifiedMatching +obo:GARD_6299 Dyskeratosis congenita, autosomal dominant 1 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_6299 Dyskeratosis congenita, autosomal dominant 1 skos:exactMatch OMIM:127550 semapv:UnspecifiedMatching +obo:GARD_6300 Dyskeratosis congenita, autosomal recessive 1 skos:broadMatch Orphanet:1775 semapv:UnspecifiedMatching +obo:GARD_6300 Dyskeratosis congenita, autosomal recessive 1 skos:exactMatch OMIM:224230 semapv:UnspecifiedMatching +obo:GARD_6308 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form skos:exactMatch Orphanet:79408 semapv:UnspecifiedMatching +obo:GARD_6308 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form skos:narrowMatch OMIM:226600 semapv:UnspecifiedMatching +obo:GARD_6309 Eales disease skos:exactMatch Orphanet:40923 semapv:UnspecifiedMatching +obo:GARD_6313 Ebstein malformation of the tricuspid valve skos:exactMatch Orphanet:1880 semapv:UnspecifiedMatching +obo:GARD_6313 Ebstein malformation of the tricuspid valve skos:narrowMatch OMIM:224700 semapv:UnspecifiedMatching +obo:GARD_6317 Ectodermal dysplasia syndrome skos:exactMatch Orphanet:79373 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:exactMatch Orphanet:2440 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:183600 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:225300 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:246560 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:313350 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:605289 semapv:UnspecifiedMatching +obo:GARD_6319 Isolated split hand-split foot malformation skos:narrowMatch OMIM:606708 semapv:UnspecifiedMatching +obo:GARD_6321 Trisomy 18 skos:exactMatch Orphanet:3380 semapv:UnspecifiedMatching +obo:GARD_6322 Ehlers-Danlos syndrome skos:exactMatch Orphanet:98249 semapv:UnspecifiedMatching +obo:GARD_6323 Eisenmenger syndrome skos:exactMatch Orphanet:97214 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:181350 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:300696 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:310300 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612998 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:612999 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:614302 semapv:UnspecifiedMatching +obo:GARD_6329 Emery-Dreifuss muscular dystrophy skos:narrowMatch OMIM:616516 semapv:UnspecifiedMatching +obo:GARD_6332 Encephalitis lethargica skos:exactMatch Orphanet:83600 semapv:UnspecifiedMatching +obo:GARD_6333 Isolated encephalocele skos:exactMatch Orphanet:199647 semapv:UnspecifiedMatching +obo:GARD_6336 Endocardial fibroelastosis skos:exactMatch Orphanet:2022 semapv:UnspecifiedMatching +obo:GARD_6336 Endocardial fibroelastosis skos:narrowMatch OMIM:226000 semapv:UnspecifiedMatching +obo:GARD_6337 Infective endocarditis skos:exactMatch Orphanet:570762 semapv:UnspecifiedMatching +obo:GARD_6339 Endometrial stromal sarcoma skos:exactMatch Orphanet:213711 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:179900 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:204000 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:204100 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:604232 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:604393 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:604537 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:608553 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:610612 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:611755 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:612712 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:613341 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:613826 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:613829 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:613835 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:613837 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:613843 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:614186 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:615360 semapv:UnspecifiedMatching +obo:GARD_634 Leber congenital amaurosis skos:narrowMatch OMIM:618513 semapv:UnspecifiedMatching +obo:GARD_635 Leber congenital amaurosis 1 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_635 Leber congenital amaurosis 1 skos:exactMatch OMIM:204000 semapv:UnspecifiedMatching +obo:GARD_6351 Eosinophilic fasciitis skos:exactMatch Orphanet:3165 semapv:UnspecifiedMatching +obo:GARD_6351 Eosinophilic fasciitis skos:narrowMatch OMIM:226350 semapv:UnspecifiedMatching +obo:GARD_6353 Ependymoma skos:exactMatch Orphanet:251636 semapv:UnspecifiedMatching +obo:GARD_6357 Epidermodysplasia verruciformis skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching +obo:GARD_6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:226400 semapv:UnspecifiedMatching +obo:GARD_6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:305350 semapv:UnspecifiedMatching +obo:GARD_6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618231 semapv:UnspecifiedMatching +obo:GARD_6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618267 semapv:UnspecifiedMatching +obo:GARD_6357 Epidermodysplasia verruciformis skos:narrowMatch OMIM:618309 semapv:UnspecifiedMatching +obo:GARD_636 Leber congenital amaurosis 2 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_636 Leber congenital amaurosis 2 skos:exactMatch OMIM:204100 semapv:UnspecifiedMatching +obo:GARD_6360 Epidermolysis bullosa acquisita skos:exactMatch Orphanet:46487 semapv:UnspecifiedMatching +obo:GARD_6369 Erdheim-Chester disease skos:exactMatch Orphanet:35687 semapv:UnspecifiedMatching +obo:GARD_637 Amaurosis-hypertrichosis syndrome skos:exactMatch Orphanet:1021 semapv:UnspecifiedMatching +obo:GARD_637 Amaurosis-hypertrichosis syndrome skos:narrowMatch OMIM:204110 semapv:UnspecifiedMatching +obo:GARD_6377 Primary erythromelalgia skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching +obo:GARD_6377 Primary erythromelalgia skos:narrowMatch OMIM:133020 semapv:UnspecifiedMatching +obo:GARD_6381 Esophageal atresia skos:exactMatch Orphanet:1199 semapv:UnspecifiedMatching +obo:GARD_6381 Esophageal atresia skos:narrowMatch OMIM:189960 semapv:UnspecifiedMatching +obo:GARD_6383 Carcinoma of esophagus skos:exactMatch Orphanet:70482 semapv:UnspecifiedMatching +obo:GARD_6386 Cryoglobulinemic vasculitis skos:exactMatch Orphanet:91138 semapv:UnspecifiedMatching +obo:GARD_6386 Cryoglobulinemic vasculitis skos:narrowMatch OMIM:123550 semapv:UnspecifiedMatching +obo:GARD_6389 Evans syndrome skos:exactMatch Orphanet:1959 semapv:UnspecifiedMatching +obo:GARD_6390 Skeletal Ewing sarcoma skos:exactMatch Orphanet:319 semapv:UnspecifiedMatching +obo:GARD_6390 Skeletal Ewing sarcoma skos:narrowMatch OMIM:612219 semapv:UnspecifiedMatching +obo:GARD_6398 Bladder exstrophy skos:exactMatch Orphanet:93930 semapv:UnspecifiedMatching +obo:GARD_6398 Bladder exstrophy skos:narrowMatch OMIM:600057 semapv:UnspecifiedMatching +obo:GARD_64 Fountain syndrome skos:exactMatch Orphanet:3219 semapv:UnspecifiedMatching +obo:GARD_64 Fountain syndrome skos:narrowMatch OMIM:229120 semapv:UnspecifiedMatching +obo:GARD_640 Congenital amegakaryocytic thrombocytopenia skos:exactMatch Orphanet:3319 semapv:UnspecifiedMatching +obo:GARD_640 Congenital amegakaryocytic thrombocytopenia skos:narrowMatch OMIM:604498 semapv:UnspecifiedMatching +obo:GARD_6400 Fabry disease skos:exactMatch Orphanet:324 semapv:UnspecifiedMatching +obo:GARD_6400 Fabry disease skos:narrowMatch OMIM:301500 semapv:UnspecifiedMatching +obo:GARD_6404 Congenital factor X deficiency skos:exactMatch Orphanet:328 semapv:UnspecifiedMatching +obo:GARD_6404 Congenital factor X deficiency skos:narrowMatch OMIM:227600 semapv:UnspecifiedMatching +obo:GARD_6405 Acquired hemophilia A skos:exactMatch Orphanet:599480 semapv:UnspecifiedMatching +obo:GARD_6406 Bilateral striopallidodentate calcinosis skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching +obo:GARD_6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:213600 semapv:UnspecifiedMatching +obo:GARD_6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:615007 semapv:UnspecifiedMatching +obo:GARD_6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:615483 semapv:UnspecifiedMatching +obo:GARD_6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:616413 semapv:UnspecifiedMatching +obo:GARD_6406 Bilateral striopallidodentate calcinosis skos:narrowMatch OMIM:618824 semapv:UnspecifiedMatching +obo:GARD_6408 Familial adenomatous polyposis skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching +obo:GARD_6408 Familial adenomatous polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +obo:GARD_6414 Familial chylomicronemia syndrome skos:exactMatch Orphanet:444490 semapv:UnspecifiedMatching +obo:GARD_6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:118830 semapv:UnspecifiedMatching +obo:GARD_6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:207750 semapv:UnspecifiedMatching +obo:GARD_6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:238600 semapv:UnspecifiedMatching +obo:GARD_6414 Familial chylomicronemia syndrome skos:narrowMatch OMIM:615947 semapv:UnspecifiedMatching +obo:GARD_6421 Familial Mediterranean fever skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching +obo:GARD_6421 Familial Mediterranean fever skos:narrowMatch OMIM:134610 semapv:UnspecifiedMatching +obo:GARD_6421 Familial Mediterranean fever skos:narrowMatch OMIM:249100 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:exactMatch Orphanet:84 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:227645 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:227646 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:227650 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:300514 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:600901 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:603467 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:609053 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:609054 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:610832 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:613390 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:613951 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:614082 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:614083 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:615272 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:616435 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:617243 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:617244 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:617247 semapv:UnspecifiedMatching +obo:GARD_6425 Fanconi anemia skos:narrowMatch OMIM:617883 semapv:UnspecifiedMatching +obo:GARD_6426 Farber disease skos:exactMatch Orphanet:333 semapv:UnspecifiedMatching +obo:GARD_6426 Farber disease skos:narrowMatch OMIM:228000 semapv:UnspecifiedMatching +obo:GARD_6427 Farmer's lung disease skos:exactMatch Orphanet:99906 semapv:UnspecifiedMatching +obo:GARD_6429 Fatal familial insomnia skos:exactMatch Orphanet:466 semapv:UnspecifiedMatching +obo:GARD_6429 Fatal familial insomnia skos:narrowMatch OMIM:600072 semapv:UnspecifiedMatching +obo:GARD_6435 Fetal hydantoin syndrome skos:exactMatch Orphanet:1912 semapv:UnspecifiedMatching +obo:GARD_6444 Fibrous dysplasia of bone skos:exactMatch Orphanet:249 semapv:UnspecifiedMatching +obo:GARD_6445 Fibrodysplasia ossificans progressiva skos:exactMatch Orphanet:337 semapv:UnspecifiedMatching +obo:GARD_6445 Fibrodysplasia ossificans progressiva skos:narrowMatch OMIM:135100 semapv:UnspecifiedMatching +obo:GARD_6447 Severe primary trimethylaminuria skos:exactMatch Orphanet:468726 semapv:UnspecifiedMatching +obo:GARD_6447 Severe primary trimethylaminuria skos:narrowMatch OMIM:602079 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:exactMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:104500 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:104530 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:204650 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:301201 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:616221 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:616270 semapv:UnspecifiedMatching +obo:GARD_645 Hypoplastic amelogenesis imperfecta skos:narrowMatch OMIM:617297 semapv:UnspecifiedMatching +obo:GARD_6450 Fish-eye disease skos:exactMatch Orphanet:79292 semapv:UnspecifiedMatching +obo:GARD_6450 Fish-eye disease skos:narrowMatch OMIM:136120 semapv:UnspecifiedMatching +obo:GARD_6455 Floating-Harbor syndrome skos:exactMatch Orphanet:2044 semapv:UnspecifiedMatching +obo:GARD_6455 Floating-Harbor syndrome skos:narrowMatch OMIM:136140 semapv:UnspecifiedMatching +obo:GARD_6457 Focal dermal hypoplasia skos:exactMatch Orphanet:2092 semapv:UnspecifiedMatching +obo:GARD_6457 Focal dermal hypoplasia skos:narrowMatch OMIM:305600 semapv:UnspecifiedMatching +obo:GARD_646 Enamel-renal syndrome skos:exactMatch Orphanet:1031 semapv:UnspecifiedMatching +obo:GARD_646 Enamel-renal syndrome skos:narrowMatch OMIM:204690 semapv:UnspecifiedMatching +obo:GARD_6464 Fragile X syndrome skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching +obo:GARD_6464 Fragile X syndrome skos:narrowMatch OMIM:300624 semapv:UnspecifiedMatching +obo:GARD_6464 Fragile X syndrome skos:narrowMatch OMIM:311360 semapv:UnspecifiedMatching +obo:GARD_6465 Fraser syndrome skos:exactMatch Orphanet:2052 semapv:UnspecifiedMatching +obo:GARD_6465 Fraser syndrome skos:narrowMatch OMIM:219000 semapv:UnspecifiedMatching +obo:GARD_6465 Fraser syndrome skos:narrowMatch OMIM:617666 semapv:UnspecifiedMatching +obo:GARD_6465 Fraser syndrome skos:narrowMatch OMIM:617667 semapv:UnspecifiedMatching +obo:GARD_6466 Freeman-Sheldon syndrome skos:exactMatch Orphanet:2053 semapv:UnspecifiedMatching +obo:GARD_6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:193700 semapv:UnspecifiedMatching +obo:GARD_6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:277720 semapv:UnspecifiedMatching +obo:GARD_6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:616266 semapv:UnspecifiedMatching +obo:GARD_6466 Freeman-Sheldon syndrome skos:narrowMatch OMIM:618436 semapv:UnspecifiedMatching +obo:GARD_6468 Friedreich ataxia skos:exactMatch Orphanet:95 semapv:UnspecifiedMatching +obo:GARD_6468 Friedreich ataxia skos:narrowMatch OMIM:229300 semapv:UnspecifiedMatching +obo:GARD_6468 Friedreich ataxia skos:narrowMatch OMIM:601992 semapv:UnspecifiedMatching +obo:GARD_647 Amelo-onycho-hypohidrotic syndrome skos:exactMatch Orphanet:1028 semapv:UnspecifiedMatching +obo:GARD_647 Amelo-onycho-hypohidrotic syndrome skos:narrowMatch OMIM:104570 semapv:UnspecifiedMatching +obo:GARD_6471 Essential fructosuria skos:exactMatch Orphanet:2056 semapv:UnspecifiedMatching +obo:GARD_6471 Essential fructosuria skos:narrowMatch OMIM:229800 semapv:UnspecifiedMatching +obo:GARD_6473 Fucosidosis skos:exactMatch Orphanet:349 semapv:UnspecifiedMatching +obo:GARD_6473 Fucosidosis skos:narrowMatch OMIM:230000 semapv:UnspecifiedMatching +obo:GARD_6475 Congenital muscular dystrophy, Fukuyama type skos:exactMatch Orphanet:272 semapv:UnspecifiedMatching +obo:GARD_6475 Congenital muscular dystrophy, Fukuyama type skos:narrowMatch OMIM:253800 semapv:UnspecifiedMatching +obo:GARD_6476 Fumaric aciduria skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching +obo:GARD_6476 Fumaric aciduria skos:narrowMatch OMIM:606812 semapv:UnspecifiedMatching +obo:GARD_6479 GM1 gangliosidosis type 1 skos:exactMatch Orphanet:79255 semapv:UnspecifiedMatching +obo:GARD_6479 GM1 gangliosidosis type 1 skos:narrowMatch OMIM:230500 semapv:UnspecifiedMatching +obo:GARD_6481 Autoerythrocyte sensitization syndrome skos:exactMatch Orphanet:324636 semapv:UnspecifiedMatching +obo:GARD_6482 Gardner syndrome skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching +obo:GARD_6482 Gardner syndrome skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +obo:GARD_6485 MALT lymphoma skos:exactMatch Orphanet:52417 semapv:UnspecifiedMatching +obo:GARD_6485 MALT lymphoma skos:narrowMatch OMIM:137245 semapv:UnspecifiedMatching +obo:GARD_6497 Pemphigoid gestationis skos:exactMatch Orphanet:63275 semapv:UnspecifiedMatching +obo:GARD_6498 Gestational trophoblastic neoplasm skos:exactMatch Orphanet:59305 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:exactMatch Orphanet:2065 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:251300 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:301006 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:617729 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:617730 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:617731 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:618347 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:618348 semapv:UnspecifiedMatching +obo:GARD_65 Galloway-Mowat syndrome skos:narrowMatch OMIM:618349 semapv:UnspecifiedMatching +obo:GARD_6500 Giant axonal neuropathy skos:exactMatch Orphanet:643 semapv:UnspecifiedMatching +obo:GARD_6500 Giant axonal neuropathy skos:narrowMatch OMIM:256850 semapv:UnspecifiedMatching +obo:GARD_6506 Pituitary gigantism skos:exactMatch Orphanet:99725 semapv:UnspecifiedMatching +obo:GARD_6506 Pituitary gigantism skos:narrowMatch OMIM:102200 semapv:UnspecifiedMatching +obo:GARD_6509 Fibromatosis, gingival, 1 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +obo:GARD_6509 Fibromatosis, gingival, 1 skos:exactMatch OMIM:135300 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:exactMatch Orphanet:182067 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:607248 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:613028 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:613029 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:613030 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:613031 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:613032 semapv:UnspecifiedMatching +obo:GARD_6513 Glial tumor skos:narrowMatch OMIM:613033 semapv:UnspecifiedMatching +obo:GARD_6514 Gliomatosis cerebri skos:exactMatch Orphanet:251582 semapv:UnspecifiedMatching +obo:GARD_6519 Glossopharyngeal neuralgia skos:exactMatch Orphanet:221098 semapv:UnspecifiedMatching +obo:GARD_6520 Class I glucose-6-phosphate dehydrogenase deficiency skos:exactMatch Orphanet:466026 semapv:UnspecifiedMatching +obo:GARD_6520 Class I glucose-6-phosphate dehydrogenase deficiency skos:narrowMatch OMIM:300908 semapv:UnspecifiedMatching +obo:GARD_6521 Glucose-galactose malabsorption skos:exactMatch Orphanet:35710 semapv:UnspecifiedMatching +obo:GARD_6521 Glucose-galactose malabsorption skos:narrowMatch OMIM:606824 semapv:UnspecifiedMatching +obo:GARD_6522 Glutaryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:25 semapv:UnspecifiedMatching +obo:GARD_6522 Glutaryl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:231670 semapv:UnspecifiedMatching +obo:GARD_6523 Multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26791 semapv:UnspecifiedMatching +obo:GARD_6523 Multiple acyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:231680 semapv:UnspecifiedMatching +obo:GARD_6528 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:exactMatch Orphanet:368 semapv:UnspecifiedMatching +obo:GARD_6528 Glycogen storage disease due to muscle glycogen phosphorylase deficiency skos:narrowMatch OMIM:232600 semapv:UnspecifiedMatching +obo:GARD_6529 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:exactMatch Orphanet:369 semapv:UnspecifiedMatching +obo:GARD_6529 Glycogen storage disease due to liver glycogen phosphorylase deficiency skos:narrowMatch OMIM:232700 semapv:UnspecifiedMatching +obo:GARD_654 Beta-mercaptolactate cysteine disulfiduria skos:exactMatch Orphanet:1035 semapv:UnspecifiedMatching +obo:GARD_654 Beta-mercaptolactate cysteine disulfiduria skos:narrowMatch OMIM:249650 semapv:UnspecifiedMatching +obo:GARD_6542 Gorham-Stout disease skos:exactMatch Orphanet:73 semapv:UnspecifiedMatching +obo:GARD_6542 Gorham-Stout disease skos:narrowMatch OMIM:123880 semapv:UnspecifiedMatching +obo:GARD_6543 Acrogeria skos:exactMatch Orphanet:2500 semapv:UnspecifiedMatching +obo:GARD_6543 Acrogeria skos:narrowMatch OMIM:201200 semapv:UnspecifiedMatching +obo:GARD_6544 Acute graft versus host disease skos:exactMatch Orphanet:99920 semapv:UnspecifiedMatching +obo:GARD_6550 Greig cephalopolysyndactyly syndrome skos:exactMatch Orphanet:380 semapv:UnspecifiedMatching +obo:GARD_6550 Greig cephalopolysyndactyly syndrome skos:narrowMatch OMIM:175700 semapv:UnspecifiedMatching +obo:GARD_6554 Guillain-Barré syndrome skos:exactMatch Orphanet:2103 semapv:UnspecifiedMatching +obo:GARD_6556 Gyrate atrophy of choroid and retina skos:exactMatch Orphanet:414 semapv:UnspecifiedMatching +obo:GARD_6556 Gyrate atrophy of choroid and retina skos:narrowMatch OMIM:258870 semapv:UnspecifiedMatching +obo:GARD_6558 Congenital factor XII deficiency skos:exactMatch Orphanet:330 semapv:UnspecifiedMatching +obo:GARD_6558 Congenital factor XII deficiency skos:narrowMatch OMIM:234000 semapv:UnspecifiedMatching +obo:GARD_6559 Familial benign chronic pemphigus skos:exactMatch Orphanet:2841 semapv:UnspecifiedMatching +obo:GARD_6559 Familial benign chronic pemphigus skos:narrowMatch OMIM:169600 semapv:UnspecifiedMatching +obo:GARD_6560 Classic hairy cell leukemia skos:exactMatch Orphanet:58017 semapv:UnspecifiedMatching +obo:GARD_6564 Pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching +obo:GARD_6564 Pantothenate kinase-associated neurodegeneration skos:narrowMatch OMIM:234200 semapv:UnspecifiedMatching +obo:GARD_6568 Harlequin ichthyosis skos:exactMatch Orphanet:457 semapv:UnspecifiedMatching +obo:GARD_6568 Harlequin ichthyosis skos:narrowMatch OMIM:242500 semapv:UnspecifiedMatching +obo:GARD_6569 Hartnup disease skos:exactMatch Orphanet:2116 semapv:UnspecifiedMatching +obo:GARD_6569 Hartnup disease skos:narrowMatch OMIM:234500 semapv:UnspecifiedMatching +obo:GARD_6571 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching +obo:GARD_6571 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:narrowMatch OMIM:106260 semapv:UnspecifiedMatching +obo:GARD_6584 Sickle cell-hemoglobin C disease syndrome skos:exactMatch Orphanet:251365 semapv:UnspecifiedMatching +obo:GARD_6588 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch Orphanet:90038 semapv:UnspecifiedMatching +obo:GARD_6588 Shiga toxin-associated hemolytic uremic syndrome skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:267700 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:603552 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:603553 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:608898 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:613101 semapv:UnspecifiedMatching +obo:GARD_6589 Familial hemophagocytic lymphohistiocytosis skos:narrowMatch OMIM:618998 semapv:UnspecifiedMatching +obo:GARD_6591 Hemophilia A skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching +obo:GARD_6591 Hemophilia A skos:narrowMatch OMIM:306700 semapv:UnspecifiedMatching +obo:GARD_6594 Essential thrombocythemia skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching +obo:GARD_6594 Essential thrombocythemia skos:narrowMatch OMIM:187950 semapv:UnspecifiedMatching +obo:GARD_6594 Essential thrombocythemia skos:narrowMatch OMIM:601977 semapv:UnspecifiedMatching +obo:GARD_6594 Essential thrombocythemia skos:narrowMatch OMIM:614521 semapv:UnspecifiedMatching +obo:GARD_66 Gorlin-Chaudhry-Moss syndrome skos:exactMatch Orphanet:2095 semapv:UnspecifiedMatching +obo:GARD_66 Gorlin-Chaudhry-Moss syndrome skos:narrowMatch OMIM:612289 semapv:UnspecifiedMatching +obo:GARD_6608 Adult hepatocellular carcinoma skos:exactMatch Orphanet:210159 semapv:UnspecifiedMatching +obo:GARD_6608 Adult hepatocellular carcinoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +obo:GARD_6611 Hereditary amyloidosis skos:exactMatch Orphanet:444116 semapv:UnspecifiedMatching +obo:GARD_6618 CLN9 disease skos:exactMatch Orphanet:228357 semapv:UnspecifiedMatching +obo:GARD_6618 CLN9 disease skos:narrowMatch OMIM:609055 semapv:UnspecifiedMatching +obo:GARD_6619 Hereditary coproporphyria skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching +obo:GARD_6619 Hereditary coproporphyria skos:narrowMatch OMIM:121300 semapv:UnspecifiedMatching +obo:GARD_6621 Hereditary elliptocytosis skos:exactMatch Orphanet:288 semapv:UnspecifiedMatching +obo:GARD_6621 Hereditary elliptocytosis skos:narrowMatch OMIM:130600 semapv:UnspecifiedMatching +obo:GARD_6621 Hereditary elliptocytosis skos:narrowMatch OMIM:235370 semapv:UnspecifiedMatching +obo:GARD_6621 Hereditary elliptocytosis skos:narrowMatch OMIM:611804 semapv:UnspecifiedMatching +obo:GARD_6621 Hereditary elliptocytosis skos:narrowMatch OMIM:617948 semapv:UnspecifiedMatching +obo:GARD_6622 Hereditary fructose intolerance skos:exactMatch Orphanet:469 semapv:UnspecifiedMatching +obo:GARD_6622 Hereditary fructose intolerance skos:narrowMatch OMIM:229600 semapv:UnspecifiedMatching +obo:GARD_6626 Hereditary hemorrhagic telangiectasia skos:exactMatch Orphanet:774 semapv:UnspecifiedMatching +obo:GARD_6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:187300 semapv:UnspecifiedMatching +obo:GARD_6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:600376 semapv:UnspecifiedMatching +obo:GARD_6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:601101 semapv:UnspecifiedMatching +obo:GARD_6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:610655 semapv:UnspecifiedMatching +obo:GARD_6626 Hereditary hemorrhagic telangiectasia skos:narrowMatch OMIM:615506 semapv:UnspecifiedMatching +obo:GARD_6632 Hereditary chronic pancreatitis skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching +obo:GARD_6632 Hereditary chronic pancreatitis skos:narrowMatch OMIM:167800 semapv:UnspecifiedMatching +obo:GARD_6635 Hereditary sensory and autonomic neuropathy type 1 skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching +obo:GARD_6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:162400 semapv:UnspecifiedMatching +obo:GARD_6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:613640 semapv:UnspecifiedMatching +obo:GARD_6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:613708 semapv:UnspecifiedMatching +obo:GARD_6635 Hereditary sensory and autonomic neuropathy type 1 skos:narrowMatch OMIM:615632 semapv:UnspecifiedMatching +obo:GARD_6637 Hereditary spastic paraplegia skos:exactMatch Orphanet:685 semapv:UnspecifiedMatching +obo:GARD_6639 Hereditary spherocytosis skos:exactMatch Orphanet:822 semapv:UnspecifiedMatching +obo:GARD_6639 Hereditary spherocytosis skos:narrowMatch OMIM:182900 semapv:UnspecifiedMatching +obo:GARD_6639 Hereditary spherocytosis skos:narrowMatch OMIM:270970 semapv:UnspecifiedMatching +obo:GARD_6639 Hereditary spherocytosis skos:narrowMatch OMIM:612653 semapv:UnspecifiedMatching +obo:GARD_6639 Hereditary spherocytosis skos:narrowMatch OMIM:612690 semapv:UnspecifiedMatching +obo:GARD_6639 Hereditary spherocytosis skos:narrowMatch OMIM:616649 semapv:UnspecifiedMatching +obo:GARD_664 Anaplastic thyroid carcinoma skos:exactMatch Orphanet:142 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:203300 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:608233 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614072 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614073 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614074 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614075 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614076 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614077 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:614171 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:617050 semapv:UnspecifiedMatching +obo:GARD_6643 Hermansky-Pudlak syndrome skos:narrowMatch OMIM:619172 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:exactMatch Orphanet:1930 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:610551 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:613002 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:614849 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:614850 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:616532 semapv:UnspecifiedMatching +obo:GARD_6649 Herpes simplex virus encephalitis skos:narrowMatch OMIM:617900 semapv:UnspecifiedMatching +obo:GARD_6657 Chronic hiccup skos:exactMatch Orphanet:396 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:exactMatch Orphanet:388 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:142623 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:600155 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:600156 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:606874 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:606875 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:608462 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:611644 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:613711 semapv:UnspecifiedMatching +obo:GARD_6660 Hirschsprung disease skos:narrowMatch OMIM:613712 semapv:UnspecifiedMatching +obo:GARD_6661 Histidinemia skos:exactMatch Orphanet:2157 semapv:UnspecifiedMatching +obo:GARD_6661 Histidinemia skos:narrowMatch OMIM:235800 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:142945 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:142946 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:147250 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:157170 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:236100 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:605934 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:609408 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:609637 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:610828 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:610829 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:612530 semapv:UnspecifiedMatching +obo:GARD_6665 Holoprosencephaly skos:narrowMatch OMIM:614226 semapv:UnspecifiedMatching +obo:GARD_6666 Holt-Oram syndrome skos:exactMatch Orphanet:392 semapv:UnspecifiedMatching +obo:GARD_6666 Holt-Oram syndrome skos:narrowMatch OMIM:142900 semapv:UnspecifiedMatching +obo:GARD_6667 Classic homocystinuria skos:exactMatch Orphanet:394 semapv:UnspecifiedMatching +obo:GARD_6667 Classic homocystinuria skos:narrowMatch OMIM:236200 semapv:UnspecifiedMatching +obo:GARD_6670 Congenital Horner syndrome skos:exactMatch Orphanet:91413 semapv:UnspecifiedMatching +obo:GARD_6670 Congenital Horner syndrome skos:narrowMatch OMIM:143000 semapv:UnspecifiedMatching +obo:GARD_6675 Mucopolysaccharidosis type 2 skos:exactMatch Orphanet:580 semapv:UnspecifiedMatching +obo:GARD_6675 Mucopolysaccharidosis type 2 skos:narrowMatch OMIM:309900 semapv:UnspecifiedMatching +obo:GARD_6677 Huntington disease skos:exactMatch Orphanet:399 semapv:UnspecifiedMatching +obo:GARD_6677 Huntington disease skos:narrowMatch OMIM:143100 semapv:UnspecifiedMatching +obo:GARD_668 X-linked sideroblastic anemia and spinocerebellar ataxia skos:exactMatch Orphanet:2802 semapv:UnspecifiedMatching +obo:GARD_668 X-linked sideroblastic anemia and spinocerebellar ataxia skos:narrowMatch OMIM:301310 semapv:UnspecifiedMatching +obo:GARD_6681 Hydranencephaly skos:exactMatch Orphanet:2177 semapv:UnspecifiedMatching +obo:GARD_6682 Congenital hydrocephalus skos:exactMatch Orphanet:2185 semapv:UnspecifiedMatching +obo:GARD_6682 Congenital hydrocephalus skos:narrowMatch OMIM:236600 semapv:UnspecifiedMatching +obo:GARD_6682 Congenital hydrocephalus skos:narrowMatch OMIM:615219 semapv:UnspecifiedMatching +obo:GARD_6683 Hydrolethalus skos:exactMatch Orphanet:2189 semapv:UnspecifiedMatching +obo:GARD_6683 Hydrolethalus skos:narrowMatch OMIM:236680 semapv:UnspecifiedMatching +obo:GARD_6683 Hydrolethalus skos:narrowMatch OMIM:614120 semapv:UnspecifiedMatching +obo:GARD_670 Aneurysm of sinus of Valsalva skos:exactMatch Orphanet:1054 semapv:UnspecifiedMatching +obo:GARD_6703 Dysbetalipoproteinemia skos:exactMatch Orphanet:412 semapv:UnspecifiedMatching +obo:GARD_6703 Dysbetalipoproteinemia skos:narrowMatch OMIM:617347 semapv:UnspecifiedMatching +obo:GARD_6704 Familial apolipoprotein A5 deficiency skos:exactMatch Orphanet:530849 semapv:UnspecifiedMatching +obo:GARD_6704 Familial apolipoprotein A5 deficiency skos:narrowMatch OMIM:144650 semapv:UnspecifiedMatching +obo:GARD_671 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch Orphanet:63442 semapv:UnspecifiedMatching +obo:GARD_671 Angel-shaped phalango-epiphyseal dysplasia skos:narrowMatch OMIM:105835 semapv:UnspecifiedMatching +obo:GARD_6710 Hyperprolinemia type 2 skos:exactMatch Orphanet:79101 semapv:UnspecifiedMatching +obo:GARD_6710 Hyperprolinemia type 2 skos:narrowMatch OMIM:239510 semapv:UnspecifiedMatching +obo:GARD_6724 Hypochondroplasia skos:exactMatch Orphanet:429 semapv:UnspecifiedMatching +obo:GARD_6724 Hypochondroplasia skos:narrowMatch OMIM:146000 semapv:UnspecifiedMatching +obo:GARD_6725 Hypocomplementemic urticarial vasculitis skos:exactMatch Orphanet:36412 semapv:UnspecifiedMatching +obo:GARD_6729 Hypokalemic periodic paralysis skos:exactMatch Orphanet:681 semapv:UnspecifiedMatching +obo:GARD_6729 Hypokalemic periodic paralysis skos:narrowMatch OMIM:170400 semapv:UnspecifiedMatching +obo:GARD_6729 Hypokalemic periodic paralysis skos:narrowMatch OMIM:613345 semapv:UnspecifiedMatching +obo:GARD_6734 Hypophosphatasia skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching +obo:GARD_6734 Hypophosphatasia skos:narrowMatch OMIM:146300 semapv:UnspecifiedMatching +obo:GARD_6734 Hypophosphatasia skos:narrowMatch OMIM:241500 semapv:UnspecifiedMatching +obo:GARD_6734 Hypophosphatasia skos:narrowMatch OMIM:241510 semapv:UnspecifiedMatching +obo:GARD_6735 Hypophosphatemic rickets skos:exactMatch Orphanet:437 semapv:UnspecifiedMatching +obo:GARD_6737 Panhypopituitarism, x-linked skos:broadMatch Orphanet:90695 semapv:UnspecifiedMatching +obo:GARD_6737 Panhypopituitarism, x-linked skos:exactMatch OMIM:312000 semapv:UnspecifiedMatching +obo:GARD_6739 Hypoplastic left heart syndrome skos:exactMatch Orphanet:2248 semapv:UnspecifiedMatching +obo:GARD_6739 Hypoplastic left heart syndrome skos:narrowMatch OMIM:241550 semapv:UnspecifiedMatching +obo:GARD_6739 Hypoplastic left heart syndrome skos:narrowMatch OMIM:614435 semapv:UnspecifiedMatching +obo:GARD_6749 Mucolipidosis type II skos:exactMatch Orphanet:576 semapv:UnspecifiedMatching +obo:GARD_6749 Mucolipidosis type II skos:narrowMatch OMIM:252500 semapv:UnspecifiedMatching +obo:GARD_6757 Idiopathic pulmonary artery dilatation skos:exactMatch Orphanet:1676 semapv:UnspecifiedMatching +obo:GARD_676 Hereditary neurocutaneous malformation skos:exactMatch Orphanet:1062 semapv:UnspecifiedMatching +obo:GARD_676 Hereditary neurocutaneous malformation skos:narrowMatch OMIM:106070 semapv:UnspecifiedMatching +obo:GARD_6760 Idiopathic juvenile osteoporosis skos:exactMatch Orphanet:85193 semapv:UnspecifiedMatching +obo:GARD_6760 Idiopathic juvenile osteoporosis skos:narrowMatch OMIM:259750 semapv:UnspecifiedMatching +obo:GARD_6760 Idiopathic juvenile osteoporosis skos:narrowMatch OMIM:615221 semapv:UnspecifiedMatching +obo:GARD_6763 Idiopathic pulmonary hemosiderosis skos:exactMatch Orphanet:99931 semapv:UnspecifiedMatching +obo:GARD_6763 Idiopathic pulmonary hemosiderosis skos:narrowMatch OMIM:178550 semapv:UnspecifiedMatching +obo:GARD_6763 Idiopathic pulmonary hemosiderosis skos:narrowMatch OMIM:235500 semapv:UnspecifiedMatching +obo:GARD_6778 Incontinentia pigmenti skos:exactMatch Orphanet:464 semapv:UnspecifiedMatching +obo:GARD_6778 Incontinentia pigmenti skos:narrowMatch OMIM:308300 semapv:UnspecifiedMatching +obo:GARD_6779 Infantile apnea skos:exactMatch Orphanet:70590 semapv:UnspecifiedMatching +obo:GARD_6791 Fuchs heterochromic iridocyclitis skos:exactMatch Orphanet:263479 semapv:UnspecifiedMatching +obo:GARD_6793 Isaacs syndrome skos:exactMatch Orphanet:84142 semapv:UnspecifiedMatching +obo:GARD_6795 Right sided atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching +obo:GARD_6795 Right sided atrial isomerism skos:narrowMatch OMIM:208530 semapv:UnspecifiedMatching +obo:GARD_6796 Jackson-Weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching +obo:GARD_6796 Jackson-Weiss syndrome skos:narrowMatch OMIM:123150 semapv:UnspecifiedMatching +obo:GARD_6797 Japanese encephalitis skos:exactMatch Orphanet:79139 semapv:UnspecifiedMatching +obo:GARD_6798 Autosomal recessive spondylocostal dysostosis skos:exactMatch Orphanet:2311 semapv:UnspecifiedMatching +obo:GARD_6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:277300 semapv:UnspecifiedMatching +obo:GARD_6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:608681 semapv:UnspecifiedMatching +obo:GARD_6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:609813 semapv:UnspecifiedMatching +obo:GARD_6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:613686 semapv:UnspecifiedMatching +obo:GARD_6798 Autosomal recessive spondylocostal dysostosis skos:narrowMatch OMIM:616566 semapv:UnspecifiedMatching +obo:GARD_68 Hypoglossia-hypodactyly syndrome skos:exactMatch Orphanet:989 semapv:UnspecifiedMatching +obo:GARD_68 Hypoglossia-hypodactyly syndrome skos:narrowMatch OMIM:103300 semapv:UnspecifiedMatching +obo:GARD_6800 Autosomal dominant hyper-IgE syndrome skos:exactMatch Orphanet:2314 semapv:UnspecifiedMatching +obo:GARD_6800 Autosomal dominant hyper-IgE syndrome skos:narrowMatch OMIM:147060 semapv:UnspecifiedMatching +obo:GARD_6801 Spinocerebellar ataxia type 3 skos:exactMatch Orphanet:98757 semapv:UnspecifiedMatching +obo:GARD_6801 Spinocerebellar ataxia type 3 skos:narrowMatch OMIM:109150 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:213300 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:610688 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:612291 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:614173 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:614464 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:614615 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:614970 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:615636 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:616490 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:616654 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:616781 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:616784 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:617120 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:617121 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:617622 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:617761 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:618161 semapv:UnspecifiedMatching +obo:GARD_6802 Joubert syndrome skos:narrowMatch OMIM:619185 semapv:UnspecifiedMatching +obo:GARD_6805 Juvenile dermatomyositis skos:exactMatch Orphanet:93672 semapv:UnspecifiedMatching +obo:GARD_6807 Infantile systemic hyalinosis skos:exactMatch Orphanet:2176 semapv:UnspecifiedMatching +obo:GARD_6807 Infantile systemic hyalinosis skos:narrowMatch OMIM:228600 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:exactMatch Orphanet:307 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:254770 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:604827 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:607628 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:607682 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:608816 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:611136 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:611364 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:613060 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:614280 semapv:UnspecifiedMatching +obo:GARD_6808 Juvenile myoclonic epilepsy skos:narrowMatch OMIM:617924 semapv:UnspecifiedMatching +obo:GARD_6810 Kabuki syndrome skos:exactMatch Orphanet:2322 semapv:UnspecifiedMatching +obo:GARD_6810 Kabuki syndrome skos:narrowMatch OMIM:147920 semapv:UnspecifiedMatching +obo:GARD_6810 Kabuki syndrome skos:narrowMatch OMIM:300867 semapv:UnspecifiedMatching +obo:GARD_6814 Kaposi sarcoma skos:exactMatch Orphanet:33276 semapv:UnspecifiedMatching +obo:GARD_6814 Kaposi sarcoma skos:narrowMatch OMIM:148000 semapv:UnspecifiedMatching +obo:GARD_6816 Kawasaki disease skos:exactMatch Orphanet:2331 semapv:UnspecifiedMatching +obo:GARD_6816 Kawasaki disease skos:narrowMatch OMIM:611775 semapv:UnspecifiedMatching +obo:GARD_6817 Kearns-Sayre syndrome skos:exactMatch Orphanet:480 semapv:UnspecifiedMatching +obo:GARD_6817 Kearns-Sayre syndrome skos:narrowMatch OMIM:530000 semapv:UnspecifiedMatching +obo:GARD_6818 Kennedy disease skos:exactMatch Orphanet:481 semapv:UnspecifiedMatching +obo:GARD_6818 Kennedy disease skos:narrowMatch OMIM:313200 semapv:UnspecifiedMatching +obo:GARD_6821 Muir-Torre syndrome skos:exactMatch Orphanet:587 semapv:UnspecifiedMatching +obo:GARD_6821 Muir-Torre syndrome skos:narrowMatch OMIM:158320 semapv:UnspecifiedMatching +obo:GARD_6829 Keratosis follicularis spinulosa decalvans skos:exactMatch Orphanet:2340 semapv:UnspecifiedMatching +obo:GARD_6829 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:308800 semapv:UnspecifiedMatching +obo:GARD_6829 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:604093 semapv:UnspecifiedMatching +obo:GARD_6829 Keratosis follicularis spinulosa decalvans skos:narrowMatch OMIM:612843 semapv:UnspecifiedMatching +obo:GARD_683 Angiostrongyliasis skos:exactMatch Orphanet:74 semapv:UnspecifiedMatching +obo:GARD_6830 Bilirubin encephalopathy skos:exactMatch Orphanet:415286 semapv:UnspecifiedMatching +obo:GARD_6834 Kikuchi-Fujimoto disease skos:exactMatch Orphanet:50918 semapv:UnspecifiedMatching +obo:GARD_6835 Kimura disease skos:exactMatch Orphanet:482 semapv:UnspecifiedMatching +obo:GARD_6840 Klüver-Bucy syndrome skos:exactMatch Orphanet:157823 semapv:UnspecifiedMatching +obo:GARD_6841 Kniest dysplasia skos:exactMatch Orphanet:485 semapv:UnspecifiedMatching +obo:GARD_6841 Kniest dysplasia skos:narrowMatch OMIM:156550 semapv:UnspecifiedMatching +obo:GARD_6842 Osteochondrosis of the tarsal bone skos:exactMatch Orphanet:563991 semapv:UnspecifiedMatching +obo:GARD_6844 Krabbe disease skos:exactMatch Orphanet:487 semapv:UnspecifiedMatching +obo:GARD_6844 Krabbe disease skos:narrowMatch OMIM:245200 semapv:UnspecifiedMatching +obo:GARD_6844 Krabbe disease skos:narrowMatch OMIM:611722 semapv:UnspecifiedMatching +obo:GARD_6845 CLN4A disease skos:exactMatch Orphanet:228340 semapv:UnspecifiedMatching +obo:GARD_6845 CLN4A disease skos:narrowMatch OMIM:204300 semapv:UnspecifiedMatching +obo:GARD_6848 Lacrimoauriculodentodigital syndrome skos:exactMatch Orphanet:2363 semapv:UnspecifiedMatching +obo:GARD_6848 Lacrimoauriculodentodigital syndrome skos:narrowMatch OMIM:149730 semapv:UnspecifiedMatching +obo:GARD_685 Aniridia-absent patella syndrome skos:exactMatch Orphanet:1069 semapv:UnspecifiedMatching +obo:GARD_685 Aniridia-absent patella syndrome skos:narrowMatch OMIM:106220 semapv:UnspecifiedMatching +obo:GARD_6851 Lambert-Eaton myasthenic syndrome skos:exactMatch Orphanet:43393 semapv:UnspecifiedMatching +obo:GARD_6855 Landau-Kleffner syndrome skos:exactMatch Orphanet:98818 semapv:UnspecifiedMatching +obo:GARD_6855 Landau-Kleffner syndrome skos:narrowMatch OMIM:245570 semapv:UnspecifiedMatching +obo:GARD_6858 Langerhans cell histiocytosis skos:exactMatch Orphanet:389 semapv:UnspecifiedMatching +obo:GARD_6858 Langerhans cell histiocytosis skos:narrowMatch OMIM:604856 semapv:UnspecifiedMatching +obo:GARD_6859 Laron syndrome skos:exactMatch Orphanet:633 semapv:UnspecifiedMatching +obo:GARD_6859 Laron syndrome skos:narrowMatch OMIM:262500 semapv:UnspecifiedMatching +obo:GARD_6860 Larsen syndrome skos:exactMatch Orphanet:503 semapv:UnspecifiedMatching +obo:GARD_6860 Larsen syndrome skos:narrowMatch OMIM:150250 semapv:UnspecifiedMatching +obo:GARD_6865 Congenital laryngomalacia skos:exactMatch Orphanet:2373 semapv:UnspecifiedMatching +obo:GARD_6865 Congenital laryngomalacia skos:narrowMatch OMIM:150280 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:209900 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:600151 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:605231 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615981 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615982 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615983 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615984 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615985 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615986 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615987 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615988 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615989 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615990 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615991 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615992 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615993 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615994 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615995 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:615996 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:617119 semapv:UnspecifiedMatching +obo:GARD_6866 Bardet-Biedl syndrome skos:narrowMatch OMIM:617406 semapv:UnspecifiedMatching +obo:GARD_6867 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:5 semapv:UnspecifiedMatching +obo:GARD_6867 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:609016 semapv:UnspecifiedMatching +obo:GARD_6870 Leber hereditary optic neuropathy skos:exactMatch Orphanet:104 semapv:UnspecifiedMatching +obo:GARD_6870 Leber hereditary optic neuropathy skos:narrowMatch OMIM:308905 semapv:UnspecifiedMatching +obo:GARD_6870 Leber hereditary optic neuropathy skos:narrowMatch OMIM:535000 semapv:UnspecifiedMatching +obo:GARD_6873 Ledderhose disease skos:exactMatch Orphanet:199251 semapv:UnspecifiedMatching +obo:GARD_6874 Legg-Calvé-Perthes disease skos:exactMatch Orphanet:2380 semapv:UnspecifiedMatching +obo:GARD_6874 Legg-Calvé-Perthes disease skos:narrowMatch OMIM:150600 semapv:UnspecifiedMatching +obo:GARD_6876 Legionnaires disease skos:exactMatch Orphanet:549 semapv:UnspecifiedMatching +obo:GARD_6877 Leigh syndrome skos:exactMatch Orphanet:506 semapv:UnspecifiedMatching +obo:GARD_6877 Leigh syndrome skos:narrowMatch OMIM:256000 semapv:UnspecifiedMatching +obo:GARD_6878 Erythroderma desquamativum skos:exactMatch Orphanet:314 semapv:UnspecifiedMatching +obo:GARD_6878 Erythroderma desquamativum skos:narrowMatch OMIM:609536 semapv:UnspecifiedMatching +obo:GARD_6880 Leiomyosarcoma skos:exactMatch Orphanet:64720 semapv:UnspecifiedMatching +obo:GARD_6881 Leishmaniasis skos:exactMatch Orphanet:507 semapv:UnspecifiedMatching +obo:GARD_6881 Leishmaniasis skos:narrowMatch OMIM:608207 semapv:UnspecifiedMatching +obo:GARD_6882 Lemierre syndrome skos:exactMatch Orphanet:137839 semapv:UnspecifiedMatching +obo:GARD_6885 Leprechaunism skos:exactMatch Orphanet:508 semapv:UnspecifiedMatching +obo:GARD_6885 Leprechaunism skos:narrowMatch OMIM:246200 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:narrowMatch OMIM:246300 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:narrowMatch OMIM:607572 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:narrowMatch OMIM:609888 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:narrowMatch OMIM:610988 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:narrowMatch OMIM:613223 semapv:UnspecifiedMatching +obo:GARD_6886 Leprosy skos:narrowMatch OMIM:613407 semapv:UnspecifiedMatching +obo:GARD_689 Aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch Orphanet:1067 semapv:UnspecifiedMatching +obo:GARD_6893 Leukocyte adhesion deficiency type I skos:exactMatch Orphanet:99842 semapv:UnspecifiedMatching +obo:GARD_6893 Leukocyte adhesion deficiency type I skos:narrowMatch OMIM:116920 semapv:UnspecifiedMatching +obo:GARD_6895 Leukodystrophy skos:exactMatch Orphanet:68356 semapv:UnspecifiedMatching +obo:GARD_69 Hantavirus pulmonary syndrome skos:exactMatch Orphanet:319247 semapv:UnspecifiedMatching +obo:GARD_690 Aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch Orphanet:1064 semapv:UnspecifiedMatching +obo:GARD_690 Aniridia-renal agenesis-psychomotor retardation syndrome skos:narrowMatch OMIM:206750 semapv:UnspecifiedMatching +obo:GARD_6901 Lhermitte-Duclos disease skos:exactMatch Orphanet:65285 semapv:UnspecifiedMatching +obo:GARD_6901 Lhermitte-Duclos disease skos:narrowMatch OMIM:158350 semapv:UnspecifiedMatching +obo:GARD_6902 Li-Fraumeni syndrome skos:exactMatch Orphanet:524 semapv:UnspecifiedMatching +obo:GARD_6902 Li-Fraumeni syndrome skos:narrowMatch OMIM:151623 semapv:UnspecifiedMatching +obo:GARD_6902 Li-Fraumeni syndrome skos:narrowMatch OMIM:609265 semapv:UnspecifiedMatching +obo:GARD_6906 Light chain deposition disease skos:exactMatch Orphanet:93558 semapv:UnspecifiedMatching +obo:GARD_6907 Limb-girdle muscular dystrophy skos:exactMatch Orphanet:263 semapv:UnspecifiedMatching +obo:GARD_6913 Liposarcoma skos:exactMatch Orphanet:69078 semapv:UnspecifiedMatching +obo:GARD_6913 Liposarcoma skos:narrowMatch OMIM:613488 semapv:UnspecifiedMatching +obo:GARD_6914 Lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch Orphanet:2148 semapv:UnspecifiedMatching +obo:GARD_6914 Lissencephaly type 1 due to doublecortin gene mutation skos:narrowMatch OMIM:300067 semapv:UnspecifiedMatching +obo:GARD_6915 Listeriosis skos:exactMatch Orphanet:533 semapv:UnspecifiedMatching +obo:GARD_6919 Locked-in syndrome skos:exactMatch Orphanet:2406 semapv:UnspecifiedMatching +obo:GARD_693 Anisakiasis skos:exactMatch Orphanet:1070 semapv:UnspecifiedMatching +obo:GARD_6940 Jessner lymphocytic infiltration of the skin skos:exactMatch Orphanet:33314 semapv:UnspecifiedMatching +obo:GARD_6943 Lymphomatoid granulomatosis skos:exactMatch Orphanet:86869 semapv:UnspecifiedMatching +obo:GARD_6944 Lymphomatoid papulosis skos:exactMatch Orphanet:98842 semapv:UnspecifiedMatching +obo:GARD_6950 Megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 semapv:UnspecifiedMatching +obo:GARD_6950 Megalencephaly-capillary malformation-polymicrogyria syndrome skos:narrowMatch OMIM:602501 semapv:UnspecifiedMatching +obo:GARD_6951 Macrodactyly of toes skos:exactMatch Orphanet:295047 semapv:UnspecifiedMatching +obo:GARD_6953 Macular corneal dystrophy skos:exactMatch Orphanet:98969 semapv:UnspecifiedMatching +obo:GARD_6953 Macular corneal dystrophy skos:narrowMatch OMIM:217800 semapv:UnspecifiedMatching +obo:GARD_6956 Sporadic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:204 semapv:UnspecifiedMatching +obo:GARD_6956 Sporadic Creutzfeldt-Jakob disease skos:narrowMatch OMIM:123400 semapv:UnspecifiedMatching +obo:GARD_6957 Multiple symmetric lipomatosis skos:exactMatch Orphanet:2398 semapv:UnspecifiedMatching +obo:GARD_6957 Multiple symmetric lipomatosis skos:narrowMatch OMIM:151800 semapv:UnspecifiedMatching +obo:GARD_6958 Maffucci syndrome skos:exactMatch Orphanet:163634 semapv:UnspecifiedMatching +obo:GARD_6958 Maffucci syndrome skos:narrowMatch OMIM:614569 semapv:UnspecifiedMatching +obo:GARD_6959 Mal de débarquement skos:exactMatch Orphanet:210272 semapv:UnspecifiedMatching +obo:GARD_696 Ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch Orphanet:1072 semapv:UnspecifiedMatching +obo:GARD_696 Ankyloblepharon filiforme adnatum-cleft palate syndrome skos:narrowMatch OMIM:106250 semapv:UnspecifiedMatching +obo:GARD_6960 Malakoplakia skos:exactMatch Orphanet:556 semapv:UnspecifiedMatching +obo:GARD_6961 Malaria skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching +obo:GARD_6961 Malaria skos:narrowMatch OMIM:611162 semapv:UnspecifiedMatching +obo:GARD_6963 Undifferentiated pleomorphic sarcoma skos:exactMatch Orphanet:2023 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:145600 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:154275 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:154276 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:600467 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:601887 semapv:UnspecifiedMatching +obo:GARD_6964 Malignant hyperthermia of anesthesia skos:narrowMatch OMIM:601888 semapv:UnspecifiedMatching +obo:GARD_6968 Alpha-mannosidosis skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching +obo:GARD_6968 Alpha-mannosidosis skos:narrowMatch OMIM:248500 semapv:UnspecifiedMatching +obo:GARD_6969 Mantle cell lymphoma skos:exactMatch Orphanet:52416 semapv:UnspecifiedMatching +obo:GARD_697 Ankyloblepharon filiforme adnatum-imperforate anus syndrome skos:exactMatch Orphanet:1074 semapv:UnspecifiedMatching +obo:GARD_6971 Marchiafava-Bignami disease skos:exactMatch Orphanet:221074 semapv:UnspecifiedMatching +obo:GARD_6972 Marcus-Gunn syndrome skos:exactMatch Orphanet:91412 semapv:UnspecifiedMatching +obo:GARD_6972 Marcus-Gunn syndrome skos:narrowMatch OMIM:154600 semapv:UnspecifiedMatching +obo:GARD_6973 Marden-Walker syndrome skos:exactMatch Orphanet:2461 semapv:UnspecifiedMatching +obo:GARD_6973 Marden-Walker syndrome skos:narrowMatch OMIM:248700 semapv:UnspecifiedMatching +obo:GARD_6975 Marfan syndrome type 1 skos:exactMatch Orphanet:284963 semapv:UnspecifiedMatching +obo:GARD_6975 Marfan syndrome type 1 skos:narrowMatch OMIM:154700 semapv:UnspecifiedMatching +obo:GARD_6984 Marshall syndrome skos:exactMatch Orphanet:560 semapv:UnspecifiedMatching +obo:GARD_6984 Marshall syndrome skos:narrowMatch OMIM:154780 semapv:UnspecifiedMatching +obo:GARD_6985 Marshall-Smith syndrome skos:exactMatch Orphanet:561 semapv:UnspecifiedMatching +obo:GARD_6985 Marshall-Smith syndrome skos:narrowMatch OMIM:602535 semapv:UnspecifiedMatching +obo:GARD_6986 MASA syndrome skos:exactMatch Orphanet:2466 semapv:UnspecifiedMatching +obo:GARD_6986 MASA syndrome skos:narrowMatch OMIM:303350 semapv:UnspecifiedMatching +obo:GARD_6987 Mastocytosis skos:exactMatch Orphanet:98292 semapv:UnspecifiedMatching +obo:GARD_6987 Mastocytosis skos:narrowMatch OMIM:154800 semapv:UnspecifiedMatching +obo:GARD_6992 Maxillonasal dysplasia skos:exactMatch Orphanet:1248 semapv:UnspecifiedMatching +obo:GARD_6992 Maxillonasal dysplasia skos:narrowMatch OMIM:155050 semapv:UnspecifiedMatching +obo:GARD_6995 McCune-Albright syndrome skos:exactMatch Orphanet:562 semapv:UnspecifiedMatching +obo:GARD_6995 McCune-Albright syndrome skos:narrowMatch OMIM:174800 semapv:UnspecifiedMatching +obo:GARD_6996 Cartilage-hair hypoplasia skos:exactMatch Orphanet:175 semapv:UnspecifiedMatching +obo:GARD_6996 Cartilage-hair hypoplasia skos:narrowMatch OMIM:250250 semapv:UnspecifiedMatching +obo:GARD_6996 Cartilage-hair hypoplasia skos:narrowMatch OMIM:250460 semapv:UnspecifiedMatching +obo:GARD_7 Acromicric dysplasia skos:exactMatch Orphanet:969 semapv:UnspecifiedMatching +obo:GARD_7 Acromicric dysplasia skos:narrowMatch OMIM:102370 semapv:UnspecifiedMatching +obo:GARD_70 Kasabach-Merritt syndrome skos:exactMatch Orphanet:2330 semapv:UnspecifiedMatching +obo:GARD_70 Kasabach-Merritt syndrome skos:narrowMatch OMIM:141000 semapv:UnspecifiedMatching +obo:GARD_7002 MUC1-related autosomal dominant tubulointerstitial kidney disease skos:exactMatch Orphanet:88949 semapv:UnspecifiedMatching +obo:GARD_7002 MUC1-related autosomal dominant tubulointerstitial kidney disease skos:narrowMatch OMIM:174000 semapv:UnspecifiedMatching +obo:GARD_7004 Medullary thyroid carcinoma skos:exactMatch Orphanet:1332 semapv:UnspecifiedMatching +obo:GARD_7005 Medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching +obo:GARD_7005 Medulloblastoma skos:narrowMatch OMIM:155255 semapv:UnspecifiedMatching +obo:GARD_7006 Imerslund-Gräsbeck syndrome skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching +obo:GARD_7006 Imerslund-Gräsbeck syndrome skos:narrowMatch OMIM:261100 semapv:UnspecifiedMatching +obo:GARD_7006 Imerslund-Gräsbeck syndrome skos:narrowMatch OMIM:618882 semapv:UnspecifiedMatching +obo:GARD_7008 Blepharospasm-oromandibular dystonia syndrome skos:exactMatch Orphanet:93964 semapv:UnspecifiedMatching +obo:GARD_7009 MELAS skos:exactMatch Orphanet:550 semapv:UnspecifiedMatching +obo:GARD_7009 MELAS skos:narrowMatch OMIM:540000 semapv:UnspecifiedMatching +obo:GARD_701 Dental ankylosis skos:exactMatch Orphanet:1077 semapv:UnspecifiedMatching +obo:GARD_7010 Melkersson-Rosenthal syndrome skos:exactMatch Orphanet:2483 semapv:UnspecifiedMatching +obo:GARD_7010 Melkersson-Rosenthal syndrome skos:narrowMatch OMIM:155900 semapv:UnspecifiedMatching +obo:GARD_7011 Melnick-Needles syndrome skos:exactMatch Orphanet:2484 semapv:UnspecifiedMatching +obo:GARD_7011 Melnick-Needles syndrome skos:narrowMatch OMIM:309350 semapv:UnspecifiedMatching +obo:GARD_7015 Meningioma skos:exactMatch Orphanet:2495 semapv:UnspecifiedMatching +obo:GARD_7015 Meningioma skos:narrowMatch OMIM:606190 semapv:UnspecifiedMatching +obo:GARD_7021 Mercury poisoning skos:exactMatch Orphanet:330021 semapv:UnspecifiedMatching +obo:GARD_7026 Pleural mesothelioma skos:exactMatch Orphanet:50251 semapv:UnspecifiedMatching +obo:GARD_7026 Pleural mesothelioma skos:narrowMatch OMIM:156240 semapv:UnspecifiedMatching +obo:GARD_7029 Metaphyseal chondrodysplasia, Schmid type skos:exactMatch Orphanet:174 semapv:UnspecifiedMatching +obo:GARD_7029 Metaphyseal chondrodysplasia, Schmid type skos:narrowMatch OMIM:156500 semapv:UnspecifiedMatching +obo:GARD_7035 Multiple osteochondromas skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching +obo:GARD_7035 Multiple osteochondromas skos:narrowMatch OMIM:133700 semapv:UnspecifiedMatching +obo:GARD_7035 Multiple osteochondromas skos:narrowMatch OMIM:133701 semapv:UnspecifiedMatching +obo:GARD_7035 Multiple osteochondromas skos:narrowMatch OMIM:600209 semapv:UnspecifiedMatching +obo:GARD_7039 Microvillus inclusion disease skos:exactMatch Orphanet:2290 semapv:UnspecifiedMatching +obo:GARD_7039 Microvillus inclusion disease skos:narrowMatch OMIM:251850 semapv:UnspecifiedMatching +obo:GARD_7041 Extranodal nasal NK/T cell lymphoma skos:exactMatch Orphanet:86879 semapv:UnspecifiedMatching +obo:GARD_7043 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch Orphanet:79078 semapv:UnspecifiedMatching +obo:GARD_705 Annular pancreas skos:exactMatch Orphanet:675 semapv:UnspecifiedMatching +obo:GARD_705 Annular pancreas skos:narrowMatch OMIM:167750 semapv:UnspecifiedMatching +obo:GARD_7051 Mixed connective tissue disease skos:exactMatch Orphanet:809 semapv:UnspecifiedMatching +obo:GARD_7058 Localized scleroderma skos:exactMatch Orphanet:90289 semapv:UnspecifiedMatching +obo:GARD_7064 Moyamoya disease skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching +obo:GARD_7064 Moyamoya disease skos:narrowMatch OMIM:252350 semapv:UnspecifiedMatching +obo:GARD_7064 Moyamoya disease skos:narrowMatch OMIM:607151 semapv:UnspecifiedMatching +obo:GARD_7064 Moyamoya disease skos:narrowMatch OMIM:608796 semapv:UnspecifiedMatching +obo:GARD_7064 Moyamoya disease skos:narrowMatch OMIM:614042 semapv:UnspecifiedMatching +obo:GARD_7065 Mucopolysaccharidosis skos:exactMatch Orphanet:79213 semapv:UnspecifiedMatching +obo:GARD_7071 Sanfilippo syndrome type A skos:exactMatch Orphanet:79269 semapv:UnspecifiedMatching +obo:GARD_7071 Sanfilippo syndrome type A skos:narrowMatch OMIM:252900 semapv:UnspecifiedMatching +obo:GARD_7072 Sanfilippo syndrome type B skos:exactMatch Orphanet:79270 semapv:UnspecifiedMatching +obo:GARD_7072 Sanfilippo syndrome type B skos:narrowMatch OMIM:252920 semapv:UnspecifiedMatching +obo:GARD_7073 Sanfilippo syndrome type C skos:exactMatch Orphanet:79271 semapv:UnspecifiedMatching +obo:GARD_7073 Sanfilippo syndrome type C skos:narrowMatch OMIM:252930 semapv:UnspecifiedMatching +obo:GARD_7074 Sanfilippo syndrome type D skos:exactMatch Orphanet:79272 semapv:UnspecifiedMatching +obo:GARD_7074 Sanfilippo syndrome type D skos:narrowMatch OMIM:252940 semapv:UnspecifiedMatching +obo:GARD_7079 Multiple system atrophy skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching +obo:GARD_7079 Multiple system atrophy skos:narrowMatch OMIM:146500 semapv:UnspecifiedMatching +obo:GARD_7095 Mucopolysaccharidosis type 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching +obo:GARD_7095 Mucopolysaccharidosis type 6 skos:narrowMatch OMIM:253200 semapv:UnspecifiedMatching +obo:GARD_7096 Mucopolysaccharidosis type 7 skos:exactMatch Orphanet:584 semapv:UnspecifiedMatching +obo:GARD_7096 Mucopolysaccharidosis type 7 skos:narrowMatch OMIM:253220 semapv:UnspecifiedMatching +obo:GARD_7097 Muenke syndrome skos:exactMatch Orphanet:53271 semapv:UnspecifiedMatching +obo:GARD_7097 Muenke syndrome skos:narrowMatch OMIM:602849 semapv:UnspecifiedMatching +obo:GARD_710 Anonychia-onychodystrophy syndrome skos:exactMatch Orphanet:90390 semapv:UnspecifiedMatching +obo:GARD_710 Anonychia-onychodystrophy syndrome skos:narrowMatch OMIM:107000 semapv:UnspecifiedMatching +obo:GARD_710 Anonychia-onychodystrophy syndrome skos:narrowMatch OMIM:614149 semapv:UnspecifiedMatching +obo:GARD_7100 Müllerian aplasia skos:exactMatch Orphanet:73217 semapv:UnspecifiedMatching +obo:GARD_7103 Multicentric reticulohistiocytosis skos:exactMatch Orphanet:139436 semapv:UnspecifiedMatching +obo:GARD_7108 Multiple myeloma skos:exactMatch Orphanet:29073 semapv:UnspecifiedMatching +obo:GARD_7108 Multiple myeloma skos:narrowMatch OMIM:254500 semapv:UnspecifiedMatching +obo:GARD_7111 Autosomal recessive multiple pterygium syndrome skos:exactMatch Orphanet:2990 semapv:UnspecifiedMatching +obo:GARD_7111 Autosomal recessive multiple pterygium syndrome skos:narrowMatch OMIM:265000 semapv:UnspecifiedMatching +obo:GARD_7111 Autosomal recessive multiple pterygium syndrome skos:narrowMatch OMIM:618469 semapv:UnspecifiedMatching +obo:GARD_7122 Myasthenia gravis skos:exactMatch Orphanet:589 semapv:UnspecifiedMatching +obo:GARD_7122 Myasthenia gravis skos:narrowMatch OMIM:159400 semapv:UnspecifiedMatching +obo:GARD_7122 Myasthenia gravis skos:narrowMatch OMIM:254200 semapv:UnspecifiedMatching +obo:GARD_7122 Myasthenia gravis skos:narrowMatch OMIM:607085 semapv:UnspecifiedMatching +obo:GARD_713 Matthew-Wood syndrome skos:exactMatch Orphanet:2470 semapv:UnspecifiedMatching +obo:GARD_713 Matthew-Wood syndrome skos:narrowMatch OMIM:601186 semapv:UnspecifiedMatching +obo:GARD_713 Matthew-Wood syndrome skos:narrowMatch OMIM:615524 semapv:UnspecifiedMatching +obo:GARD_7132 Myelodysplastic syndrome skos:exactMatch Orphanet:52688 semapv:UnspecifiedMatching +obo:GARD_7132 Myelodysplastic syndrome skos:narrowMatch OMIM:614286 semapv:UnspecifiedMatching +obo:GARD_7139 Myoclonus-dystonia syndrome skos:exactMatch Orphanet:36899 semapv:UnspecifiedMatching +obo:GARD_7139 Myoclonus-dystonia syndrome skos:narrowMatch OMIM:159900 semapv:UnspecifiedMatching +obo:GARD_7139 Myoclonus-dystonia syndrome skos:narrowMatch OMIM:616398 semapv:UnspecifiedMatching +obo:GARD_7140 Progressive myoclonic epilepsy skos:exactMatch Orphanet:98261 semapv:UnspecifiedMatching +obo:GARD_7144 MERRF skos:exactMatch Orphanet:551 semapv:UnspecifiedMatching +obo:GARD_7144 MERRF skos:narrowMatch OMIM:545000 semapv:UnspecifiedMatching +obo:GARD_7146 Inflammatory myofibroblastic tumor skos:exactMatch Orphanet:178342 semapv:UnspecifiedMatching +obo:GARD_7148 Hyaline body myopathy skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching +obo:GARD_7148 Hyaline body myopathy skos:narrowMatch OMIM:255160 semapv:UnspecifiedMatching +obo:GARD_7148 Hyaline body myopathy skos:narrowMatch OMIM:608358 semapv:UnspecifiedMatching +obo:GARD_7157 Myxoid/round cell liposarcoma skos:exactMatch Orphanet:99967 semapv:UnspecifiedMatching +obo:GARD_7157 Myxoid/round cell liposarcoma skos:narrowMatch OMIM:613488 semapv:UnspecifiedMatching +obo:GARD_7158 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch Orphanet:927 semapv:UnspecifiedMatching +obo:GARD_7158 Hyperammonemia due to N-acetylglutamate synthase deficiency skos:narrowMatch OMIM:237310 semapv:UnspecifiedMatching +obo:GARD_7160 Nail-patella syndrome skos:exactMatch Orphanet:2614 semapv:UnspecifiedMatching +obo:GARD_7160 Nail-patella syndrome skos:narrowMatch OMIM:161200 semapv:UnspecifiedMatching +obo:GARD_7161 Nance-Horan syndrome skos:exactMatch Orphanet:627 semapv:UnspecifiedMatching +obo:GARD_7161 Nance-Horan syndrome skos:narrowMatch OMIM:302350 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:exactMatch Orphanet:2073 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:161400 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:605841 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:609039 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:612417 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:612851 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:614223 semapv:UnspecifiedMatching +obo:GARD_7162 Narcolepsy type 1 skos:narrowMatch OMIM:614250 semapv:UnspecifiedMatching +obo:GARD_7163 Nasopharyngeal carcinoma skos:exactMatch Orphanet:150 semapv:UnspecifiedMatching +obo:GARD_7163 Nasopharyngeal carcinoma skos:narrowMatch OMIM:161550 semapv:UnspecifiedMatching +obo:GARD_7163 Nasopharyngeal carcinoma skos:narrowMatch OMIM:607107 semapv:UnspecifiedMatching +obo:GARD_7163 Nasopharyngeal carcinoma skos:narrowMatch OMIM:617075 semapv:UnspecifiedMatching +obo:GARD_7166 Gorlin syndrome skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching +obo:GARD_7166 Gorlin syndrome skos:narrowMatch OMIM:109400 semapv:UnspecifiedMatching +obo:GARD_717 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch Orphanet:1101 semapv:UnspecifiedMatching +obo:GARD_7170 Nelson syndrome skos:exactMatch Orphanet:199244 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:161800 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:256030 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609273 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609284 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:609285 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:615731 semapv:UnspecifiedMatching +obo:GARD_7171 Childhood-onset nemaline myopathy skos:narrowMatch OMIM:617336 semapv:UnspecifiedMatching +obo:GARD_7172 Neonatal hemochromatosis skos:exactMatch Orphanet:446 semapv:UnspecifiedMatching +obo:GARD_7172 Neonatal hemochromatosis skos:narrowMatch OMIM:231100 semapv:UnspecifiedMatching +obo:GARD_7178 Nephrogenic diabetes insipidus skos:exactMatch Orphanet:223 semapv:UnspecifiedMatching +obo:GARD_7178 Nephrogenic diabetes insipidus skos:narrowMatch OMIM:125800 semapv:UnspecifiedMatching +obo:GARD_7178 Nephrogenic diabetes insipidus skos:narrowMatch OMIM:304800 semapv:UnspecifiedMatching +obo:GARD_7180 Benign peripheral nerve sheath tumor skos:exactMatch Orphanet:252131 semapv:UnspecifiedMatching +obo:GARD_7182 Netherton syndrome skos:exactMatch Orphanet:634 semapv:UnspecifiedMatching +obo:GARD_7182 Netherton syndrome skos:narrowMatch OMIM:256500 semapv:UnspecifiedMatching +obo:GARD_7183 Sialidosis type 2 skos:exactMatch Orphanet:87876 semapv:UnspecifiedMatching +obo:GARD_7183 Sialidosis type 2 skos:narrowMatch OMIM:256150 semapv:UnspecifiedMatching +obo:GARD_7183 Sialidosis type 2 skos:narrowMatch OMIM:256550 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:exactMatch Orphanet:635 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:256700 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:613013 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:613014 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:613015 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:613016 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:613017 semapv:UnspecifiedMatching +obo:GARD_7185 Neuroblastoma skos:narrowMatch OMIM:616792 semapv:UnspecifiedMatching +obo:GARD_7186 Neurocutaneous melanocytosis skos:exactMatch Orphanet:2481 semapv:UnspecifiedMatching +obo:GARD_7186 Neurocutaneous melanocytosis skos:narrowMatch OMIM:249400 semapv:UnspecifiedMatching +obo:GARD_719 Anophthalmia plus syndrome skos:exactMatch Orphanet:1104 semapv:UnspecifiedMatching +obo:GARD_719 Anophthalmia plus syndrome skos:narrowMatch OMIM:600776 semapv:UnspecifiedMatching +obo:GARD_7190 Alzheimer disease 15 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_7190 Alzheimer disease 15 skos:exactMatch OMIM:604154 semapv:UnspecifiedMatching +obo:GARD_7191 Neurofibroma skos:exactMatch Orphanet:252183 semapv:UnspecifiedMatching +obo:GARD_7193 Neurofibromatosis type 2 skos:exactMatch Orphanet:637 semapv:UnspecifiedMatching +obo:GARD_7193 Neurofibromatosis type 2 skos:narrowMatch OMIM:101000 semapv:UnspecifiedMatching +obo:GARD_7195 Neuroleptic malignant syndrome skos:exactMatch Orphanet:94093 semapv:UnspecifiedMatching +obo:GARD_7201 Thymic aplasia skos:exactMatch Orphanet:83471 semapv:UnspecifiedMatching +obo:GARD_7201 Thymic aplasia skos:narrowMatch OMIM:242700 semapv:UnspecifiedMatching +obo:GARD_7206 Infantile neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:77292 semapv:UnspecifiedMatching +obo:GARD_7206 Infantile neurovisceral acid sphingomyelinase deficiency skos:narrowMatch OMIM:257200 semapv:UnspecifiedMatching +obo:GARD_7207 Niemann-Pick disease type C skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching +obo:GARD_7207 Niemann-Pick disease type C skos:narrowMatch OMIM:257220 semapv:UnspecifiedMatching +obo:GARD_7207 Niemann-Pick disease type C skos:narrowMatch OMIM:607625 semapv:UnspecifiedMatching +obo:GARD_7210 Nocardiosis skos:exactMatch Orphanet:31204 semapv:UnspecifiedMatching +obo:GARD_7219 Glycine encephalopathy skos:exactMatch Orphanet:407 semapv:UnspecifiedMatching +obo:GARD_7219 Glycine encephalopathy skos:narrowMatch OMIM:605899 semapv:UnspecifiedMatching +obo:GARD_722 Microphthalmia with limb anomalies skos:exactMatch Orphanet:1106 semapv:UnspecifiedMatching +obo:GARD_722 Microphthalmia with limb anomalies skos:narrowMatch OMIM:206920 semapv:UnspecifiedMatching +obo:GARD_7220 Milroy disease skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching +obo:GARD_7220 Milroy disease skos:narrowMatch OMIM:153100 semapv:UnspecifiedMatching +obo:GARD_7220 Milroy disease skos:narrowMatch OMIM:611944 semapv:UnspecifiedMatching +obo:GARD_7220 Milroy disease skos:narrowMatch OMIM:613480 semapv:UnspecifiedMatching +obo:GARD_7220 Milroy disease skos:narrowMatch OMIM:615907 semapv:UnspecifiedMatching +obo:GARD_7223 Noonan syndrome 1 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_7223 Noonan syndrome 1 skos:exactMatch OMIM:163950 semapv:UnspecifiedMatching +obo:GARD_7224 Norrie disease skos:exactMatch Orphanet:649 semapv:UnspecifiedMatching +obo:GARD_7224 Norrie disease skos:narrowMatch OMIM:310600 semapv:UnspecifiedMatching +obo:GARD_7226 Lesch-Nyhan syndrome skos:exactMatch Orphanet:510 semapv:UnspecifiedMatching +obo:GARD_7226 Lesch-Nyhan syndrome skos:narrowMatch OMIM:300322 semapv:UnspecifiedMatching +obo:GARD_7226 Lesch-Nyhan syndrome skos:narrowMatch OMIM:308950 semapv:UnspecifiedMatching +obo:GARD_7239 Oculodentodigital dysplasia skos:exactMatch Orphanet:2710 semapv:UnspecifiedMatching +obo:GARD_7239 Oculodentodigital dysplasia skos:narrowMatch OMIM:164200 semapv:UnspecifiedMatching +obo:GARD_7239 Oculodentodigital dysplasia skos:narrowMatch OMIM:257850 semapv:UnspecifiedMatching +obo:GARD_7245 Oculopharyngeal muscular dystrophy skos:exactMatch Orphanet:270 semapv:UnspecifiedMatching +obo:GARD_7245 Oculopharyngeal muscular dystrophy skos:narrowMatch OMIM:164300 semapv:UnspecifiedMatching +obo:GARD_7251 Ollier disease skos:exactMatch Orphanet:296 semapv:UnspecifiedMatching +obo:GARD_7251 Ollier disease skos:narrowMatch OMIM:166000 semapv:UnspecifiedMatching +obo:GARD_7252 Onchocerciasis skos:exactMatch Orphanet:2737 semapv:UnspecifiedMatching +obo:GARD_7264 Oral submucous fibrosis skos:exactMatch Orphanet:357154 semapv:UnspecifiedMatching +obo:GARD_7269 Carbamoyl-phosphate synthetase 1 deficiency skos:exactMatch Orphanet:147 semapv:UnspecifiedMatching +obo:GARD_7269 Carbamoyl-phosphate synthetase 1 deficiency skos:narrowMatch OMIM:237300 semapv:UnspecifiedMatching +obo:GARD_7284 Osteosarcoma skos:exactMatch Orphanet:668 semapv:UnspecifiedMatching +obo:GARD_7284 Osteosarcoma skos:narrowMatch OMIM:259500 semapv:UnspecifiedMatching +obo:GARD_7295 Ovarian cancer skos:exactMatch Orphanet:213500 semapv:UnspecifiedMatching +obo:GARD_7296 Malignant mixed Müllerian tumor of the ovary skos:exactMatch Orphanet:213512 semapv:UnspecifiedMatching +obo:GARD_7299 Pachydermoperiostosis skos:exactMatch Orphanet:2796 semapv:UnspecifiedMatching +obo:GARD_7299 Pachydermoperiostosis skos:narrowMatch OMIM:167100 semapv:UnspecifiedMatching +obo:GARD_7299 Pachydermoperiostosis skos:narrowMatch OMIM:259100 semapv:UnspecifiedMatching +obo:GARD_7299 Pachydermoperiostosis skos:narrowMatch OMIM:614441 semapv:UnspecifiedMatching +obo:GARD_73 X-linked hyper-IgM syndrome skos:exactMatch Orphanet:101088 semapv:UnspecifiedMatching +obo:GARD_73 X-linked hyper-IgM syndrome skos:narrowMatch OMIM:308230 semapv:UnspecifiedMatching +obo:GARD_730 Anti-HLA hyperimmunization skos:exactMatch Orphanet:2194 semapv:UnspecifiedMatching +obo:GARD_7303 Paget disease of the nipple skos:exactMatch Orphanet:180275 semapv:UnspecifiedMatching +obo:GARD_7305 Pallister-Hall syndrome skos:exactMatch Orphanet:672 semapv:UnspecifiedMatching +obo:GARD_7305 Pallister-Hall syndrome skos:narrowMatch OMIM:146510 semapv:UnspecifiedMatching +obo:GARD_731 Congenital alpha2-antiplasmin deficiency skos:exactMatch Orphanet:79 semapv:UnspecifiedMatching +obo:GARD_731 Congenital alpha2-antiplasmin deficiency skos:narrowMatch OMIM:262850 semapv:UnspecifiedMatching +obo:GARD_7312 PANDAS skos:exactMatch Orphanet:66624 semapv:UnspecifiedMatching +obo:GARD_7321 Localized lichen myxedematosus skos:exactMatch Orphanet:86795 semapv:UnspecifiedMatching +obo:GARD_7323 Paracoccidioidomycosis skos:exactMatch Orphanet:73260 semapv:UnspecifiedMatching +obo:GARD_7324 Paragangliomas 1 skos:broadMatch Orphanet:29072 semapv:UnspecifiedMatching +obo:GARD_7324 Paragangliomas 1 skos:exactMatch OMIM:168000 semapv:UnspecifiedMatching +obo:GARD_7325 Paramyotonia congenita of Von Eulenburg skos:exactMatch Orphanet:684 semapv:UnspecifiedMatching +obo:GARD_7325 Paramyotonia congenita of Von Eulenburg skos:narrowMatch OMIM:168300 semapv:UnspecifiedMatching +obo:GARD_7326 Paraneoplastic neurologic syndrome skos:exactMatch Orphanet:36388 semapv:UnspecifiedMatching +obo:GARD_7329 Parathyroid carcinoma skos:exactMatch Orphanet:143 semapv:UnspecifiedMatching +obo:GARD_7329 Parathyroid carcinoma skos:narrowMatch OMIM:608266 semapv:UnspecifiedMatching +obo:GARD_7335 Paroxysmal cold hemoglobinuria skos:exactMatch Orphanet:90035 semapv:UnspecifiedMatching +obo:GARD_7337 Paroxysmal nocturnal hemoglobinuria skos:exactMatch Orphanet:447 semapv:UnspecifiedMatching +obo:GARD_7337 Paroxysmal nocturnal hemoglobinuria skos:narrowMatch OMIM:300818 semapv:UnspecifiedMatching +obo:GARD_7337 Paroxysmal nocturnal hemoglobinuria skos:narrowMatch OMIM:615399 semapv:UnspecifiedMatching +obo:GARD_7338 Progressive hemifacial atrophy skos:exactMatch Orphanet:1214 semapv:UnspecifiedMatching +obo:GARD_7338 Progressive hemifacial atrophy skos:narrowMatch OMIM:141300 semapv:UnspecifiedMatching +obo:GARD_7341 Trisomy 13 skos:exactMatch Orphanet:3378 semapv:UnspecifiedMatching +obo:GARD_7342 Patent ductus arteriosus 1 skos:broadMatch Orphanet:466729 semapv:UnspecifiedMatching +obo:GARD_7342 Patent ductus arteriosus 1 skos:exactMatch OMIM:607411 semapv:UnspecifiedMatching +obo:GARD_7343 Pearson syndrome skos:exactMatch Orphanet:699 semapv:UnspecifiedMatching +obo:GARD_7343 Pearson syndrome skos:narrowMatch OMIM:557000 semapv:UnspecifiedMatching +obo:GARD_7347 Peeling skin syndrome skos:exactMatch Orphanet:817 semapv:UnspecifiedMatching +obo:GARD_735 Antisynthetase syndrome skos:exactMatch Orphanet:81 semapv:UnspecifiedMatching +obo:GARD_7354 Pemphigus foliaceus skos:exactMatch Orphanet:79481 semapv:UnspecifiedMatching +obo:GARD_7355 Pemphigus vulgaris skos:exactMatch Orphanet:704 semapv:UnspecifiedMatching +obo:GARD_7355 Pemphigus vulgaris skos:narrowMatch OMIM:169610 semapv:UnspecifiedMatching +obo:GARD_7359 Pentalogy of Cantrell skos:exactMatch Orphanet:1335 semapv:UnspecifiedMatching +obo:GARD_7359 Pentalogy of Cantrell skos:narrowMatch OMIM:313850 semapv:UnspecifiedMatching +obo:GARD_7360 Polyarteritis nodosa skos:exactMatch Orphanet:767 semapv:UnspecifiedMatching +obo:GARD_7371 Periventricular nodular heterotopia 1 skos:broadMatch Orphanet:98892 semapv:UnspecifiedMatching +obo:GARD_7371 Periventricular nodular heterotopia 1 skos:exactMatch OMIM:300049 semapv:UnspecifiedMatching +obo:GARD_7377 Peters anomaly skos:exactMatch Orphanet:708 semapv:UnspecifiedMatching +obo:GARD_7377 Peters anomaly skos:narrowMatch OMIM:604229 semapv:UnspecifiedMatching +obo:GARD_7377 Peters anomaly skos:narrowMatch OMIM:612968 semapv:UnspecifiedMatching +obo:GARD_7378 Peutz-Jeghers syndrome skos:exactMatch Orphanet:2869 semapv:UnspecifiedMatching +obo:GARD_7378 Peutz-Jeghers syndrome skos:narrowMatch OMIM:175200 semapv:UnspecifiedMatching +obo:GARD_738 Congenital aortopulmonary window skos:exactMatch Orphanet:2037 semapv:UnspecifiedMatching +obo:GARD_7380 Pfeiffer syndrome skos:exactMatch Orphanet:710 semapv:UnspecifiedMatching +obo:GARD_7380 Pfeiffer syndrome skos:narrowMatch OMIM:101600 semapv:UnspecifiedMatching +obo:GARD_7381 Liddle syndrome skos:exactMatch Orphanet:526 semapv:UnspecifiedMatching +obo:GARD_7381 Liddle syndrome skos:narrowMatch OMIM:177200 semapv:UnspecifiedMatching +obo:GARD_7381 Liddle syndrome skos:narrowMatch OMIM:618114 semapv:UnspecifiedMatching +obo:GARD_7381 Liddle syndrome skos:narrowMatch OMIM:618126 semapv:UnspecifiedMatching +obo:GARD_7383 Phenylketonuria skos:exactMatch Orphanet:716 semapv:UnspecifiedMatching +obo:GARD_7383 Phenylketonuria skos:narrowMatch OMIM:261600 semapv:UnspecifiedMatching +obo:GARD_7385 Sporadic pheochromocytoma/secreting paraganglioma skos:exactMatch Orphanet:276621 semapv:UnspecifiedMatching +obo:GARD_7387 Roberts syndrome skos:exactMatch Orphanet:3103 semapv:UnspecifiedMatching +obo:GARD_7387 Roberts syndrome skos:narrowMatch OMIM:268300 semapv:UnspecifiedMatching +obo:GARD_7389 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch Orphanet:713 semapv:UnspecifiedMatching +obo:GARD_7389 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:narrowMatch OMIM:300653 semapv:UnspecifiedMatching +obo:GARD_739 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:1110 semapv:UnspecifiedMatching +obo:GARD_739 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:narrowMatch OMIM:107500 semapv:UnspecifiedMatching +obo:GARD_7392 Behavioral variant of frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching +obo:GARD_7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +obo:GARD_7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +obo:GARD_7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:600795 semapv:UnspecifiedMatching +obo:GARD_7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:616437 semapv:UnspecifiedMatching +obo:GARD_7392 Behavioral variant of frontotemporal dementia skos:narrowMatch OMIM:619132 semapv:UnspecifiedMatching +obo:GARD_7396 Tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 semapv:UnspecifiedMatching +obo:GARD_7399 Isolated growth hormone deficiency type IA skos:exactMatch Orphanet:231662 semapv:UnspecifiedMatching +obo:GARD_7399 Isolated growth hormone deficiency type IA skos:narrowMatch OMIM:262400 semapv:UnspecifiedMatching +obo:GARD_7399 Isolated growth hormone deficiency type IA skos:narrowMatch OMIM:618160 semapv:UnspecifiedMatching +obo:GARD_740 Aortic arch interruption skos:exactMatch Orphanet:2299 semapv:UnspecifiedMatching +obo:GARD_7401 Pityriasis rubra pilaris skos:exactMatch Orphanet:2897 semapv:UnspecifiedMatching +obo:GARD_7401 Pityriasis rubra pilaris skos:narrowMatch OMIM:173200 semapv:UnspecifiedMatching +obo:GARD_7403 Placental site trophoblastic tumor skos:exactMatch Orphanet:99928 semapv:UnspecifiedMatching +obo:GARD_741 Aortic arch defects skos:exactMatch Orphanet:1132 semapv:UnspecifiedMatching +obo:GARD_7411 POEMS syndrome skos:exactMatch Orphanet:2905 semapv:UnspecifiedMatching +obo:GARD_7412 Poland syndrome skos:exactMatch Orphanet:2911 semapv:UnspecifiedMatching +obo:GARD_7412 Poland syndrome skos:narrowMatch OMIM:173800 semapv:UnspecifiedMatching +obo:GARD_7413 Poliomyelitis skos:exactMatch Orphanet:2912 semapv:UnspecifiedMatching +obo:GARD_7415 Cutaneous polyarteritis nodosa skos:exactMatch Orphanet:439729 semapv:UnspecifiedMatching +obo:GARD_7417 Relapsing polychondritis skos:exactMatch Orphanet:728 semapv:UnspecifiedMatching +obo:GARD_7422 Polycythemia vera skos:exactMatch Orphanet:729 semapv:UnspecifiedMatching +obo:GARD_7422 Polycythemia vera skos:narrowMatch OMIM:263300 semapv:UnspecifiedMatching +obo:GARD_7425 Polymyositis skos:exactMatch Orphanet:732 semapv:UnspecifiedMatching +obo:GARD_743 Supravalvular aortic stenosis skos:exactMatch Orphanet:3193 semapv:UnspecifiedMatching +obo:GARD_743 Supravalvular aortic stenosis skos:narrowMatch OMIM:185500 semapv:UnspecifiedMatching +obo:GARD_7430 Porencephaly skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching +obo:GARD_7430 Porencephaly skos:narrowMatch OMIM:175780 semapv:UnspecifiedMatching +obo:GARD_7430 Porencephaly skos:narrowMatch OMIM:614483 semapv:UnspecifiedMatching +obo:GARD_7433 Porphyria cutanea tarda skos:exactMatch Orphanet:101330 semapv:UnspecifiedMatching +obo:GARD_7433 Porphyria cutanea tarda skos:narrowMatch OMIM:176090 semapv:UnspecifiedMatching +obo:GARD_7433 Porphyria cutanea tarda skos:narrowMatch OMIM:176100 semapv:UnspecifiedMatching +obo:GARD_7439 Posterior urethral valve skos:exactMatch Orphanet:93110 semapv:UnspecifiedMatching +obo:GARD_7439 Posterior urethral valve skos:narrowMatch OMIM:618612 semapv:UnspecifiedMatching +obo:GARD_7446 Rare precocious puberty skos:exactMatch Orphanet:95708 semapv:UnspecifiedMatching +obo:GARD_7459 Primary biliary cholangitis skos:exactMatch Orphanet:186 semapv:UnspecifiedMatching +obo:GARD_7459 Primary biliary cholangitis skos:narrowMatch OMIM:109720 semapv:UnspecifiedMatching +obo:GARD_7459 Primary biliary cholangitis skos:narrowMatch OMIM:613007 semapv:UnspecifiedMatching +obo:GARD_7459 Primary biliary cholangitis skos:narrowMatch OMIM:613008 semapv:UnspecifiedMatching +obo:GARD_7459 Primary biliary cholangitis skos:narrowMatch OMIM:614220 semapv:UnspecifiedMatching +obo:GARD_7459 Primary biliary cholangitis skos:narrowMatch OMIM:614221 semapv:UnspecifiedMatching +obo:GARD_7467 Hutchinson-Gilford progeria syndrome skos:exactMatch Orphanet:740 semapv:UnspecifiedMatching +obo:GARD_7467 Hutchinson-Gilford progeria syndrome skos:narrowMatch OMIM:176670 semapv:UnspecifiedMatching +obo:GARD_7468 Progressive multifocal leukoencephalopathy skos:exactMatch Orphanet:217260 semapv:UnspecifiedMatching +obo:GARD_7471 Progressive supranuclear palsy skos:exactMatch Orphanet:683 semapv:UnspecifiedMatching +obo:GARD_7471 Progressive supranuclear palsy skos:narrowMatch OMIM:260540 semapv:UnspecifiedMatching +obo:GARD_7471 Progressive supranuclear palsy skos:narrowMatch OMIM:601104 semapv:UnspecifiedMatching +obo:GARD_7471 Progressive supranuclear palsy skos:narrowMatch OMIM:609454 semapv:UnspecifiedMatching +obo:GARD_7471 Progressive supranuclear palsy skos:narrowMatch OMIM:610898 semapv:UnspecifiedMatching +obo:GARD_7473 Prolidase deficiency skos:exactMatch Orphanet:742 semapv:UnspecifiedMatching +obo:GARD_7473 Prolidase deficiency skos:narrowMatch OMIM:170100 semapv:UnspecifiedMatching +obo:GARD_7475 Proteus syndrome skos:exactMatch Orphanet:744 semapv:UnspecifiedMatching +obo:GARD_7475 Proteus syndrome skos:narrowMatch OMIM:176920 semapv:UnspecifiedMatching +obo:GARD_7479 Prune belly syndrome skos:exactMatch Orphanet:2970 semapv:UnspecifiedMatching +obo:GARD_7479 Prune belly syndrome skos:narrowMatch OMIM:100100 semapv:UnspecifiedMatching +obo:GARD_748 Aphalangy-syndactyly-microcephaly syndrome skos:exactMatch Orphanet:1113 semapv:UnspecifiedMatching +obo:GARD_748 Aphalangy-syndactyly-microcephaly syndrome skos:narrowMatch OMIM:600384 semapv:UnspecifiedMatching +obo:GARD_7482 Butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 semapv:UnspecifiedMatching +obo:GARD_7482 Butyrylcholinesterase deficiency skos:narrowMatch OMIM:617936 semapv:UnspecifiedMatching +obo:GARD_7486 Pseudohypoparathyroidism type 1A skos:exactMatch Orphanet:79443 semapv:UnspecifiedMatching +obo:GARD_7486 Pseudohypoparathyroidism type 1A skos:narrowMatch OMIM:103580 semapv:UnspecifiedMatching +obo:GARD_7488 Pseudomyxoma peritonei skos:exactMatch Orphanet:26790 semapv:UnspecifiedMatching +obo:GARD_7499 Autoimmune pulmonary alveolar proteinosis skos:exactMatch Orphanet:747 semapv:UnspecifiedMatching +obo:GARD_7499 Autoimmune pulmonary alveolar proteinosis skos:narrowMatch OMIM:610910 semapv:UnspecifiedMatching +obo:GARD_7501 Pulmonary arterial hypertension skos:exactMatch Orphanet:182090 semapv:UnspecifiedMatching +obo:GARD_7503 Punctate inner choroidopathy skos:exactMatch Orphanet:580951 semapv:UnspecifiedMatching +obo:GARD_7510 Pyoderma gangrenosum skos:exactMatch Orphanet:48104 semapv:UnspecifiedMatching +obo:GARD_7512 Pyruvate carboxylase deficiency skos:exactMatch Orphanet:3008 semapv:UnspecifiedMatching +obo:GARD_7512 Pyruvate carboxylase deficiency skos:narrowMatch OMIM:266150 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:245348 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:245349 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:246900 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:312170 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:608782 semapv:UnspecifiedMatching +obo:GARD_7513 Pyruvate dehydrogenase deficiency skos:narrowMatch OMIM:614111 semapv:UnspecifiedMatching +obo:GARD_7514 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching +obo:GARD_7514 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:narrowMatch OMIM:266200 semapv:UnspecifiedMatching +obo:GARD_7515 Q fever skos:exactMatch Orphanet:781 semapv:UnspecifiedMatching +obo:GARD_7516 Rabies skos:exactMatch Orphanet:770 semapv:UnspecifiedMatching +obo:GARD_7523 Ramon syndrome skos:exactMatch Orphanet:3019 semapv:UnspecifiedMatching +obo:GARD_7523 Ramon syndrome skos:narrowMatch OMIM:266270 semapv:UnspecifiedMatching +obo:GARD_7525 Ramsay Hunt syndrome skos:exactMatch Orphanet:3020 semapv:UnspecifiedMatching +obo:GARD_753 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch Orphanet:1116 semapv:UnspecifiedMatching +obo:GARD_753 Aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:narrowMatch OMIM:207731 semapv:UnspecifiedMatching +obo:GARD_7548 Familial renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching +obo:GARD_7548 Familial renal glucosuria skos:narrowMatch OMIM:233100 semapv:UnspecifiedMatching +obo:GARD_7552 Primary renal tubular acidosis skos:exactMatch Orphanet:314822 semapv:UnspecifiedMatching +obo:GARD_756 Aplasia cutis-myopia syndrome skos:exactMatch Orphanet:1117 semapv:UnspecifiedMatching +obo:GARD_756 Aplasia cutis-myopia syndrome skos:narrowMatch OMIM:601075 semapv:UnspecifiedMatching +obo:GARD_7563 Retinoblastoma skos:exactMatch Orphanet:790 semapv:UnspecifiedMatching +obo:GARD_7563 Retinoblastoma skos:narrowMatch OMIM:180200 semapv:UnspecifiedMatching +obo:GARD_7570 Reye syndrome skos:exactMatch Orphanet:3096 semapv:UnspecifiedMatching +obo:GARD_7572 Rhabdoid tumor skos:exactMatch Orphanet:69077 semapv:UnspecifiedMatching +obo:GARD_7572 Rhabdoid tumor skos:narrowMatch OMIM:609322 semapv:UnspecifiedMatching +obo:GARD_7572 Rhabdoid tumor skos:narrowMatch OMIM:613325 semapv:UnspecifiedMatching +obo:GARD_7581 Familial dysautonomia skos:exactMatch Orphanet:1764 semapv:UnspecifiedMatching +obo:GARD_7581 Familial dysautonomia skos:narrowMatch OMIM:223900 semapv:UnspecifiedMatching +obo:GARD_7585 Rocky Mountain spotted fever skos:exactMatch Orphanet:83311 semapv:UnspecifiedMatching +obo:GARD_7588 Rosaï-Dorfman disease skos:exactMatch Orphanet:158014 semapv:UnspecifiedMatching +obo:GARD_759 Familial apolipoprotein C-II deficiency skos:exactMatch Orphanet:309020 semapv:UnspecifiedMatching +obo:GARD_759 Familial apolipoprotein C-II deficiency skos:narrowMatch OMIM:207750 semapv:UnspecifiedMatching +obo:GARD_7593 Rubinstein-Taybi syndrome skos:exactMatch Orphanet:783 semapv:UnspecifiedMatching +obo:GARD_7593 Rubinstein-Taybi syndrome skos:narrowMatch OMIM:180849 semapv:UnspecifiedMatching +obo:GARD_7593 Rubinstein-Taybi syndrome skos:narrowMatch OMIM:610543 semapv:UnspecifiedMatching +obo:GARD_7593 Rubinstein-Taybi syndrome skos:narrowMatch OMIM:613684 semapv:UnspecifiedMatching +obo:GARD_7598 Saethre-Chotzen syndrome skos:exactMatch Orphanet:794 semapv:UnspecifiedMatching +obo:GARD_7598 Saethre-Chotzen syndrome skos:narrowMatch OMIM:101400 semapv:UnspecifiedMatching +obo:GARD_7598 Saethre-Chotzen syndrome skos:narrowMatch OMIM:180750 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:129490 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:224900 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:300291 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:305100 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:612132 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614940 semapv:UnspecifiedMatching +obo:GARD_76 Hypohidrotic ectodermal dysplasia skos:narrowMatch OMIM:614941 semapv:UnspecifiedMatching +obo:GARD_7604 Sandhoff disease, infantile form skos:exactMatch Orphanet:309155 semapv:UnspecifiedMatching +obo:GARD_7604 Sandhoff disease, infantile form skos:narrowMatch OMIM:268800 semapv:UnspecifiedMatching +obo:GARD_7606 SAPHO syndrome skos:exactMatch Orphanet:793 semapv:UnspecifiedMatching +obo:GARD_7607 Sarcoidosis skos:exactMatch Orphanet:797 semapv:UnspecifiedMatching +obo:GARD_7607 Sarcoidosis skos:narrowMatch OMIM:181000 semapv:UnspecifiedMatching +obo:GARD_7607 Sarcoidosis skos:narrowMatch OMIM:612387 semapv:UnspecifiedMatching +obo:GARD_7607 Sarcoidosis skos:narrowMatch OMIM:612388 semapv:UnspecifiedMatching +obo:GARD_7608 X-linked scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:431272 semapv:UnspecifiedMatching +obo:GARD_7608 X-linked scapuloperoneal muscular dystrophy skos:narrowMatch OMIM:300695 semapv:UnspecifiedMatching +obo:GARD_7610 Familial Scheuermann disease skos:exactMatch Orphanet:3135 semapv:UnspecifiedMatching +obo:GARD_7610 Familial Scheuermann disease skos:narrowMatch OMIM:181440 semapv:UnspecifiedMatching +obo:GARD_7611 Autoimmune polyendocrinopathy type 2 skos:exactMatch Orphanet:3143 semapv:UnspecifiedMatching +obo:GARD_7611 Autoimmune polyendocrinopathy type 2 skos:narrowMatch OMIM:269200 semapv:UnspecifiedMatching +obo:GARD_7615 Scleromyxedema skos:exactMatch Orphanet:167635 semapv:UnspecifiedMatching +obo:GARD_7617 Kuru skos:exactMatch Orphanet:454745 semapv:UnspecifiedMatching +obo:GARD_7617 Kuru skos:narrowMatch OMIM:245300 semapv:UnspecifiedMatching +obo:GARD_7627 Septo-optic dysplasia spectrum skos:exactMatch Orphanet:3157 semapv:UnspecifiedMatching +obo:GARD_7627 Septo-optic dysplasia spectrum skos:narrowMatch OMIM:182230 semapv:UnspecifiedMatching +obo:GARD_7628 Severe combined immunodeficiency skos:exactMatch Orphanet:183660 semapv:UnspecifiedMatching +obo:GARD_7629 Sézary syndrome skos:exactMatch Orphanet:3162 semapv:UnspecifiedMatching +obo:GARD_7630 Sheehan syndrome skos:exactMatch Orphanet:91355 semapv:UnspecifiedMatching +obo:GARD_7633 SHORT syndrome skos:exactMatch Orphanet:3163 semapv:UnspecifiedMatching +obo:GARD_7633 SHORT syndrome skos:narrowMatch OMIM:269880 semapv:UnspecifiedMatching +obo:GARD_7639 Sialidosis type 1 skos:exactMatch Orphanet:812 semapv:UnspecifiedMatching +obo:GARD_7639 Sialidosis type 1 skos:narrowMatch OMIM:256550 semapv:UnspecifiedMatching +obo:GARD_764 Arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch Orphanet:1130 semapv:UnspecifiedMatching +obo:GARD_7649 Simpson-Golabi-Behmel syndrome skos:exactMatch Orphanet:373 semapv:UnspecifiedMatching +obo:GARD_7649 Simpson-Golabi-Behmel syndrome skos:narrowMatch OMIM:312870 semapv:UnspecifiedMatching +obo:GARD_7652 Sirenomelia skos:exactMatch Orphanet:3169 semapv:UnspecifiedMatching +obo:GARD_7652 Sirenomelia skos:narrowMatch OMIM:600145 semapv:UnspecifiedMatching +obo:GARD_7653 Sitosterolemia skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching +obo:GARD_7653 Sitosterolemia skos:narrowMatch OMIM:210250 semapv:UnspecifiedMatching +obo:GARD_7653 Sitosterolemia skos:narrowMatch OMIM:618666 semapv:UnspecifiedMatching +obo:GARD_7654 Sjögren-Larsson syndrome skos:exactMatch Orphanet:816 semapv:UnspecifiedMatching +obo:GARD_7654 Sjögren-Larsson syndrome skos:narrowMatch OMIM:270200 semapv:UnspecifiedMatching +obo:GARD_7664 Sneddon syndrome skos:exactMatch Orphanet:820 semapv:UnspecifiedMatching +obo:GARD_7664 Sneddon syndrome skos:narrowMatch OMIM:182410 semapv:UnspecifiedMatching +obo:GARD_7672 Sphingolipidosis skos:exactMatch Orphanet:79225 semapv:UnspecifiedMatching +obo:GARD_7673 Isolated spina bifida skos:exactMatch Orphanet:823 semapv:UnspecifiedMatching +obo:GARD_7673 Isolated spina bifida skos:narrowMatch OMIM:182940 semapv:UnspecifiedMatching +obo:GARD_7673 Isolated spina bifida skos:narrowMatch OMIM:301410 semapv:UnspecifiedMatching +obo:GARD_7673 Isolated spina bifida skos:narrowMatch OMIM:601634 semapv:UnspecifiedMatching +obo:GARD_7687 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:253 semapv:UnspecifiedMatching +obo:GARD_7690 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching +obo:GARD_7690 Gerstmann-Straussler-Scheinker syndrome skos:narrowMatch OMIM:137440 semapv:UnspecifiedMatching +obo:GARD_7692 Sporotrichosis skos:exactMatch Orphanet:826 semapv:UnspecifiedMatching +obo:GARD_7693 Sprengel deformity skos:exactMatch Orphanet:3181 semapv:UnspecifiedMatching +obo:GARD_7693 Sprengel deformity skos:narrowMatch OMIM:184400 semapv:UnspecifiedMatching +obo:GARD_7695 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching +obo:GARD_7695 Succinic semialdehyde dehydrogenase deficiency skos:narrowMatch OMIM:271980 semapv:UnspecifiedMatching +obo:GARD_770 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching +obo:GARD_770 Aromatic L-amino acid decarboxylase deficiency skos:narrowMatch OMIM:608643 semapv:UnspecifiedMatching +obo:GARD_7700 Stevens-Johnson syndrome skos:exactMatch Orphanet:36426 semapv:UnspecifiedMatching +obo:GARD_7700 Stevens-Johnson syndrome skos:narrowMatch OMIM:608579 semapv:UnspecifiedMatching +obo:GARD_7706 Sturge-Weber syndrome skos:exactMatch Orphanet:3205 semapv:UnspecifiedMatching +obo:GARD_7706 Sturge-Weber syndrome skos:narrowMatch OMIM:185300 semapv:UnspecifiedMatching +obo:GARD_7708 Subacute sclerosing leukoencephalitis skos:exactMatch Orphanet:2806 semapv:UnspecifiedMatching +obo:GARD_7708 Subacute sclerosing leukoencephalitis skos:narrowMatch OMIM:260470 semapv:UnspecifiedMatching +obo:GARD_7710 Congenital sucrase-isomaltase deficiency skos:exactMatch Orphanet:35122 semapv:UnspecifiedMatching +obo:GARD_7710 Congenital sucrase-isomaltase deficiency skos:narrowMatch OMIM:222900 semapv:UnspecifiedMatching +obo:GARD_7712 Superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 semapv:UnspecifiedMatching +obo:GARD_7713 Susac syndrome skos:exactMatch Orphanet:838 semapv:UnspecifiedMatching +obo:GARD_7716 Sydenham chorea skos:exactMatch Orphanet:306731 semapv:UnspecifiedMatching +obo:GARD_7721 Synovial sarcoma skos:exactMatch Orphanet:3273 semapv:UnspecifiedMatching +obo:GARD_7721 Synovial sarcoma skos:narrowMatch OMIM:300813 semapv:UnspecifiedMatching +obo:GARD_7725 Syringomyelia skos:exactMatch Orphanet:3280 semapv:UnspecifiedMatching +obo:GARD_7725 Syringomyelia skos:narrowMatch OMIM:186700 semapv:UnspecifiedMatching +obo:GARD_7730 Takayasu arteritis skos:exactMatch Orphanet:3287 semapv:UnspecifiedMatching +obo:GARD_7730 Takayasu arteritis skos:narrowMatch OMIM:207600 semapv:UnspecifiedMatching +obo:GARD_7731 Tangier disease skos:exactMatch Orphanet:31150 semapv:UnspecifiedMatching +obo:GARD_7731 Tangier disease skos:narrowMatch OMIM:205400 semapv:UnspecifiedMatching +obo:GARD_7737 Tay-Sachs disease skos:exactMatch Orphanet:845 semapv:UnspecifiedMatching +obo:GARD_7737 Tay-Sachs disease skos:narrowMatch OMIM:272800 semapv:UnspecifiedMatching +obo:GARD_774 Arterial tortuosity syndrome skos:exactMatch Orphanet:3342 semapv:UnspecifiedMatching +obo:GARD_774 Arterial tortuosity syndrome skos:narrowMatch OMIM:208050 semapv:UnspecifiedMatching +obo:GARD_7743 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:exactMatch Orphanet:95455 semapv:UnspecifiedMatching +obo:GARD_7743 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum skos:narrowMatch OMIM:608579 semapv:UnspecifiedMatching +obo:GARD_7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch Orphanet:238583 semapv:UnspecifiedMatching +obo:GARD_7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:233910 semapv:UnspecifiedMatching +obo:GARD_7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:261630 semapv:UnspecifiedMatching +obo:GARD_7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:261640 semapv:UnspecifiedMatching +obo:GARD_7751 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:narrowMatch OMIM:264070 semapv:UnspecifiedMatching +obo:GARD_7754 Tetrasomy X skos:exactMatch Orphanet:9 semapv:UnspecifiedMatching +obo:GARD_7759 Thoracic outlet syndrome skos:exactMatch Orphanet:97330 semapv:UnspecifiedMatching +obo:GARD_777 Arthrogryposis multiplex congenita skos:exactMatch Orphanet:1037 semapv:UnspecifiedMatching +obo:GARD_7772 Tietz syndrome skos:exactMatch Orphanet:42665 semapv:UnspecifiedMatching +obo:GARD_7772 Tietz syndrome skos:narrowMatch OMIM:103500 semapv:UnspecifiedMatching +obo:GARD_7777 Tolosa-Hunt syndrome skos:exactMatch Orphanet:64686 semapv:UnspecifiedMatching +obo:GARD_7784 Townes-Brocks syndrome skos:exactMatch Orphanet:857 semapv:UnspecifiedMatching +obo:GARD_7784 Townes-Brocks syndrome skos:narrowMatch OMIM:107480 semapv:UnspecifiedMatching +obo:GARD_7784 Townes-Brocks syndrome skos:narrowMatch OMIM:617466 semapv:UnspecifiedMatching +obo:GARD_7793 Transient erythroblastopenia of childhood skos:exactMatch Orphanet:98871 semapv:UnspecifiedMatching +obo:GARD_7793 Transient erythroblastopenia of childhood skos:narrowMatch OMIM:227050 semapv:UnspecifiedMatching +obo:GARD_7795 Transposition of the great arteries skos:exactMatch Orphanet:216675 semapv:UnspecifiedMatching +obo:GARD_7799 Tricho-dento-osseous syndrome skos:exactMatch Orphanet:3352 semapv:UnspecifiedMatching +obo:GARD_7799 Tricho-dento-osseous syndrome skos:narrowMatch OMIM:190320 semapv:UnspecifiedMatching +obo:GARD_7800 Trichorhinophalangeal syndrome, type i skos:broadMatch Orphanet:77258 semapv:UnspecifiedMatching +obo:GARD_7800 Trichorhinophalangeal syndrome, type i skos:exactMatch OMIM:190350 semapv:UnspecifiedMatching +obo:GARD_7801 Trichorhinophalangeal syndrome type 2 skos:exactMatch Orphanet:502 semapv:UnspecifiedMatching +obo:GARD_7801 Trichorhinophalangeal syndrome type 2 skos:narrowMatch OMIM:150230 semapv:UnspecifiedMatching +obo:GARD_7802 Trichorhinophalangeal syndrome, type iii skos:broadMatch Orphanet:77258 semapv:UnspecifiedMatching +obo:GARD_7802 Trichorhinophalangeal syndrome, type iii skos:exactMatch OMIM:190351 semapv:UnspecifiedMatching +obo:GARD_7805 Trigeminal neuralgia skos:exactMatch Orphanet:221091 semapv:UnspecifiedMatching +obo:GARD_7805 Trigeminal neuralgia skos:narrowMatch OMIM:190400 semapv:UnspecifiedMatching +obo:GARD_7826 African trypanosomiasis skos:exactMatch Orphanet:3385 semapv:UnspecifiedMatching +obo:GARD_7827 Tuberculosis skos:exactMatch Orphanet:3389 semapv:UnspecifiedMatching +obo:GARD_7827 Tuberculosis skos:narrowMatch OMIM:607948 semapv:UnspecifiedMatching +obo:GARD_7828 Tuberculous meningitis skos:exactMatch Orphanet:499004 semapv:UnspecifiedMatching +obo:GARD_7830 Tuberous sclerosis complex skos:exactMatch Orphanet:805 semapv:UnspecifiedMatching +obo:GARD_7830 Tuberous sclerosis complex skos:narrowMatch OMIM:191100 semapv:UnspecifiedMatching +obo:GARD_7830 Tuberous sclerosis complex skos:narrowMatch OMIM:613254 semapv:UnspecifiedMatching +obo:GARD_7831 Turner syndrome skos:exactMatch Orphanet:881 semapv:UnspecifiedMatching +obo:GARD_7837 Disorder of urea cycle metabolism and ammonia detoxification skos:exactMatch Orphanet:79167 semapv:UnspecifiedMatching +obo:GARD_784 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch Orphanet:1144 semapv:UnspecifiedMatching +obo:GARD_784 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:narrowMatch OMIM:108200 semapv:UnspecifiedMatching +obo:GARD_7842 Cutaneous mastocytosis skos:exactMatch Orphanet:66646 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:276900 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:276901 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:276902 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:276904 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:500004 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:601067 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:602083 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:602097 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:605472 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:606943 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:611383 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:612632 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:614504 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:614869 semapv:UnspecifiedMatching +obo:GARD_7843 Usher syndrome skos:narrowMatch OMIM:614990 semapv:UnspecifiedMatching +obo:GARD_7846 Van der woude syndrome 2 skos:broadMatch Orphanet:888 semapv:UnspecifiedMatching +obo:GARD_7846 Van der woude syndrome 2 skos:exactMatch OMIM:606713 semapv:UnspecifiedMatching +obo:GARD_7848 Porphyria variegata skos:exactMatch Orphanet:79473 semapv:UnspecifiedMatching +obo:GARD_7848 Porphyria variegata skos:narrowMatch OMIM:176200 semapv:UnspecifiedMatching +obo:GARD_7851 Cutaneous small vessel vasculitis skos:exactMatch Orphanet:889 semapv:UnspecifiedMatching +obo:GARD_7854 Vernal keratoconjunctivitis skos:exactMatch Orphanet:70476 semapv:UnspecifiedMatching +obo:GARD_7855 Von Hippel-Lindau disease skos:exactMatch Orphanet:892 semapv:UnspecifiedMatching +obo:GARD_7855 Von Hippel-Lindau disease skos:narrowMatch OMIM:193300 semapv:UnspecifiedMatching +obo:GARD_7857 Hemophagocytic syndrome associated with an infection skos:exactMatch Orphanet:158048 semapv:UnspecifiedMatching +obo:GARD_786 Distal arthrogryposis skos:exactMatch Orphanet:97120 semapv:UnspecifiedMatching +obo:GARD_7860 Pseudopseudohypoparathyroidism skos:exactMatch Orphanet:79445 semapv:UnspecifiedMatching +obo:GARD_7860 Pseudopseudohypoparathyroidism skos:narrowMatch OMIM:612463 semapv:UnspecifiedMatching +obo:GARD_7862 Vogt-Koyanagi-Harada disease skos:exactMatch Orphanet:3437 semapv:UnspecifiedMatching +obo:GARD_7864 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia skos:exactMatch Orphanet:79258 semapv:UnspecifiedMatching +obo:GARD_7864 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia skos:narrowMatch OMIM:232200 semapv:UnspecifiedMatching +obo:GARD_7866 Neurofibromatosis type 1 skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching +obo:GARD_7866 Neurofibromatosis type 1 skos:narrowMatch OMIM:162200 semapv:UnspecifiedMatching +obo:GARD_7866 Neurofibromatosis type 1 skos:narrowMatch OMIM:162210 semapv:UnspecifiedMatching +obo:GARD_7866 Neurofibromatosis type 1 skos:narrowMatch OMIM:613675 semapv:UnspecifiedMatching +obo:GARD_7867 Von Willebrand disease skos:exactMatch Orphanet:903 semapv:UnspecifiedMatching +obo:GARD_7867 Von Willebrand disease skos:narrowMatch OMIM:193400 semapv:UnspecifiedMatching +obo:GARD_7867 Von Willebrand disease skos:narrowMatch OMIM:277480 semapv:UnspecifiedMatching +obo:GARD_7867 Von Willebrand disease skos:narrowMatch OMIM:314560 semapv:UnspecifiedMatching +obo:GARD_7867 Von Willebrand disease skos:narrowMatch OMIM:613554 semapv:UnspecifiedMatching +obo:GARD_787 Distal arthrogryposis type 1 skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching +obo:GARD_787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:108120 semapv:UnspecifiedMatching +obo:GARD_787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:126050 semapv:UnspecifiedMatching +obo:GARD_787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:614335 semapv:UnspecifiedMatching +obo:GARD_787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:618435 semapv:UnspecifiedMatching +obo:GARD_787 Distal arthrogryposis type 1 skos:narrowMatch OMIM:619110 semapv:UnspecifiedMatching +obo:GARD_7871 Wagner disease skos:exactMatch Orphanet:898 semapv:UnspecifiedMatching +obo:GARD_7871 Wagner disease skos:narrowMatch OMIM:143200 semapv:UnspecifiedMatching +obo:GARD_7872 Waldenström macroglobulinemia skos:exactMatch Orphanet:33226 semapv:UnspecifiedMatching +obo:GARD_7872 Waldenström macroglobulinemia skos:narrowMatch OMIM:153600 semapv:UnspecifiedMatching +obo:GARD_7872 Waldenström macroglobulinemia skos:narrowMatch OMIM:610430 semapv:UnspecifiedMatching +obo:GARD_7873 Primary intestinal lymphangiectasia skos:exactMatch Orphanet:90362 semapv:UnspecifiedMatching +obo:GARD_7873 Primary intestinal lymphangiectasia skos:narrowMatch OMIM:152800 semapv:UnspecifiedMatching +obo:GARD_7876 Autoimmune hemolytic anemia, warm type skos:exactMatch Orphanet:90033 semapv:UnspecifiedMatching +obo:GARD_7878 Weaver syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching +obo:GARD_7878 Weaver syndrome skos:narrowMatch OMIM:277590 semapv:UnspecifiedMatching +obo:GARD_7878 Weaver syndrome skos:narrowMatch OMIM:617561 semapv:UnspecifiedMatching +obo:GARD_7878 Weaver syndrome skos:narrowMatch OMIM:618786 semapv:UnspecifiedMatching +obo:GARD_7879 Nodular non-suppurative panniculitis skos:exactMatch Orphanet:33577 semapv:UnspecifiedMatching +obo:GARD_7880 Granulomatosis with polyangiitis skos:exactMatch Orphanet:900 semapv:UnspecifiedMatching +obo:GARD_7880 Granulomatosis with polyangiitis skos:narrowMatch OMIM:608710 semapv:UnspecifiedMatching +obo:GARD_7881 Leptospirosis skos:exactMatch Orphanet:509 semapv:UnspecifiedMatching +obo:GARD_7883 Proximal spinal muscular atrophy type 1 skos:exactMatch Orphanet:83330 semapv:UnspecifiedMatching +obo:GARD_7883 Proximal spinal muscular atrophy type 1 skos:narrowMatch OMIM:253300 semapv:UnspecifiedMatching +obo:GARD_7885 Werner syndrome skos:exactMatch Orphanet:902 semapv:UnspecifiedMatching +obo:GARD_7885 Werner syndrome skos:narrowMatch OMIM:277700 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:613477 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:613722 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:615006 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:616139 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:616341 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:617065 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:617929 semapv:UnspecifiedMatching +obo:GARD_7887 Infantile spasms syndrome skos:narrowMatch OMIM:618298 semapv:UnspecifiedMatching +obo:GARD_7888 Western equine encephalitis skos:exactMatch Orphanet:83593 semapv:UnspecifiedMatching +obo:GARD_7889 Whipple disease skos:exactMatch Orphanet:3452 semapv:UnspecifiedMatching +obo:GARD_7890 Intellectual disability-developmental delay-contractures syndrome skos:exactMatch Orphanet:3454 semapv:UnspecifiedMatching +obo:GARD_7890 Intellectual disability-developmental delay-contractures syndrome skos:narrowMatch OMIM:314580 semapv:UnspecifiedMatching +obo:GARD_7891 Williams syndrome skos:exactMatch Orphanet:904 semapv:UnspecifiedMatching +obo:GARD_7891 Williams syndrome skos:narrowMatch OMIM:194050 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:narrowMatch OMIM:194070 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:narrowMatch OMIM:194071 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:narrowMatch OMIM:194090 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:narrowMatch OMIM:601363 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:narrowMatch OMIM:601583 semapv:UnspecifiedMatching +obo:GARD_7892 Nephroblastoma skos:narrowMatch OMIM:616806 semapv:UnspecifiedMatching +obo:GARD_7893 Wilson disease skos:exactMatch Orphanet:905 semapv:UnspecifiedMatching +obo:GARD_7893 Wilson disease skos:narrowMatch OMIM:277900 semapv:UnspecifiedMatching +obo:GARD_7894 Winchester syndrome skos:broadMatch Orphanet:371428 semapv:UnspecifiedMatching +obo:GARD_7894 Winchester syndrome skos:exactMatch OMIM:277950 semapv:UnspecifiedMatching +obo:GARD_7895 Wiskott-Aldrich syndrome skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching +obo:GARD_7895 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:301000 semapv:UnspecifiedMatching +obo:GARD_7895 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:600903 semapv:UnspecifiedMatching +obo:GARD_7895 Wiskott-Aldrich syndrome skos:narrowMatch OMIM:614493 semapv:UnspecifiedMatching +obo:GARD_7896 Wolf-Hirschhorn syndrome skos:exactMatch Orphanet:280 semapv:UnspecifiedMatching +obo:GARD_7896 Wolf-Hirschhorn syndrome skos:narrowMatch OMIM:194190 semapv:UnspecifiedMatching +obo:GARD_7898 Wolfram syndrome skos:exactMatch Orphanet:3463 semapv:UnspecifiedMatching +obo:GARD_7898 Wolfram syndrome skos:narrowMatch OMIM:222300 semapv:UnspecifiedMatching +obo:GARD_7898 Wolfram syndrome skos:narrowMatch OMIM:598500 semapv:UnspecifiedMatching +obo:GARD_7898 Wolfram syndrome skos:narrowMatch OMIM:604928 semapv:UnspecifiedMatching +obo:GARD_7899 Wolman disease skos:exactMatch Orphanet:75233 semapv:UnspecifiedMatching +obo:GARD_7899 Wolman disease skos:narrowMatch OMIM:278000 semapv:UnspecifiedMatching +obo:GARD_79 Metaphyseal chondrodysplasia, Jansen type skos:exactMatch Orphanet:33067 semapv:UnspecifiedMatching +obo:GARD_79 Metaphyseal chondrodysplasia, Jansen type skos:narrowMatch OMIM:156400 semapv:UnspecifiedMatching +obo:GARD_790 Neurogenic arthrogryposis multiplex congenita skos:exactMatch Orphanet:1143 semapv:UnspecifiedMatching +obo:GARD_790 Neurogenic arthrogryposis multiplex congenita skos:narrowMatch OMIM:208100 semapv:UnspecifiedMatching +obo:GARD_7900 Wyburn-Mason syndrome skos:exactMatch Orphanet:53719 semapv:UnspecifiedMatching +obo:GARD_7904 Recessive X-linked ichthyosis skos:exactMatch Orphanet:461 semapv:UnspecifiedMatching +obo:GARD_7904 Recessive X-linked ichthyosis skos:narrowMatch OMIM:300001 semapv:UnspecifiedMatching +obo:GARD_7904 Recessive X-linked ichthyosis skos:narrowMatch OMIM:308100 semapv:UnspecifiedMatching +obo:GARD_7906 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch Orphanet:538931 semapv:UnspecifiedMatching +obo:GARD_7906 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:narrowMatch OMIM:308240 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278700 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278720 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278730 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278740 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278760 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:278780 semapv:UnspecifiedMatching +obo:GARD_7910 Xeroderma pigmentosum skos:narrowMatch OMIM:610651 semapv:UnspecifiedMatching +obo:GARD_7914 Yellow fever skos:exactMatch Orphanet:99829 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:exactMatch Orphanet:912 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:214100 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:214110 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614859 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614862 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614866 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614870 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614872 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614876 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614882 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614883 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614886 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:614887 semapv:UnspecifiedMatching +obo:GARD_7917 Zellweger syndrome skos:narrowMatch OMIM:617370 semapv:UnspecifiedMatching +obo:GARD_7918 Zollinger-Ellison syndrome skos:exactMatch Orphanet:913 semapv:UnspecifiedMatching +obo:GARD_792 Arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch Orphanet:1150 semapv:UnspecifiedMatching +obo:GARD_792 Arthrogryposis multiplex congenita-whistling face syndrome skos:narrowMatch OMIM:208155 semapv:UnspecifiedMatching +obo:GARD_7922 Muscular dystrophy skos:exactMatch Orphanet:98473 semapv:UnspecifiedMatching +obo:GARD_794 Arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch Orphanet:2697 semapv:UnspecifiedMatching +obo:GARD_794 Arthrogryposis-renal dysfunction-cholestasis syndrome skos:narrowMatch OMIM:208085 semapv:UnspecifiedMatching +obo:GARD_794 Arthrogryposis-renal dysfunction-cholestasis syndrome skos:narrowMatch OMIM:613404 semapv:UnspecifiedMatching +obo:GARD_80 Johanson-Blizzard syndrome skos:exactMatch Orphanet:2315 semapv:UnspecifiedMatching +obo:GARD_80 Johanson-Blizzard syndrome skos:narrowMatch OMIM:243800 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:exactMatch Orphanet:98722 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:narrowMatch OMIM:600309 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:narrowMatch OMIM:606215 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:narrowMatch OMIM:606217 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:narrowMatch OMIM:614430 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:narrowMatch OMIM:614474 semapv:UnspecifiedMatching +obo:GARD_802 Atrioventricular septal defect skos:narrowMatch OMIM:615779 semapv:UnspecifiedMatching +obo:GARD_804 Alagille syndrome skos:exactMatch Orphanet:52 semapv:UnspecifiedMatching +obo:GARD_804 Alagille syndrome skos:narrowMatch OMIM:118450 semapv:UnspecifiedMatching +obo:GARD_804 Alagille syndrome skos:narrowMatch OMIM:610205 semapv:UnspecifiedMatching +obo:GARD_806 Spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch Orphanet:2819 semapv:UnspecifiedMatching +obo:GARD_809 Balantidiasis skos:exactMatch Orphanet:1223 semapv:UnspecifiedMatching +obo:GARD_81 Intellectual developmental disorder, x-linked, syndromic, turner type skos:broadMatch Orphanet:528084 semapv:UnspecifiedMatching +obo:GARD_81 Intellectual developmental disorder, x-linked, syndromic, turner type skos:exactMatch OMIM:309590 semapv:UnspecifiedMatching +obo:GARD_812 Bangstad syndrome skos:exactMatch Orphanet:1227 semapv:UnspecifiedMatching +obo:GARD_812 Bangstad syndrome skos:narrowMatch OMIM:210740 semapv:UnspecifiedMatching +obo:GARD_813 Banki syndrome skos:exactMatch Orphanet:1228 semapv:UnspecifiedMatching +obo:GARD_813 Banki syndrome skos:narrowMatch OMIM:109300 semapv:UnspecifiedMatching +obo:GARD_816 Orofaciodigital syndrome type 4 skos:exactMatch Orphanet:2753 semapv:UnspecifiedMatching +obo:GARD_816 Orofaciodigital syndrome type 4 skos:narrowMatch OMIM:258860 semapv:UnspecifiedMatching +obo:GARD_8169 IgG4-related mesenteritis skos:exactMatch Orphanet:238593 semapv:UnspecifiedMatching +obo:GARD_8173 Achondroplasia skos:exactMatch Orphanet:15 semapv:UnspecifiedMatching +obo:GARD_8173 Achondroplasia skos:narrowMatch OMIM:100800 semapv:UnspecifiedMatching +obo:GARD_8174 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch Orphanet:1547 semapv:UnspecifiedMatching +obo:GARD_8174 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:narrowMatch OMIM:123560 semapv:UnspecifiedMatching +obo:GARD_8178 Hypotrichosis 7 skos:broadMatch Orphanet:170 semapv:UnspecifiedMatching +obo:GARD_8178 Hypotrichosis 7 skos:broadMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_8178 Hypotrichosis 7 skos:exactMatch OMIM:604379 semapv:UnspecifiedMatching +obo:GARD_8182 Proximal symphalangism skos:exactMatch Orphanet:3250 semapv:UnspecifiedMatching +obo:GARD_8182 Proximal symphalangism skos:narrowMatch OMIM:185800 semapv:UnspecifiedMatching +obo:GARD_8182 Proximal symphalangism skos:narrowMatch OMIM:615298 semapv:UnspecifiedMatching +obo:GARD_8189 Conotruncal heart malformations skos:exactMatch Orphanet:2445 semapv:UnspecifiedMatching +obo:GARD_8189 Conotruncal heart malformations skos:narrowMatch OMIM:217095 semapv:UnspecifiedMatching +obo:GARD_819 Barber-Say syndrome skos:exactMatch Orphanet:1231 semapv:UnspecifiedMatching +obo:GARD_819 Barber-Say syndrome skos:narrowMatch OMIM:209885 semapv:UnspecifiedMatching +obo:GARD_8194 Cysticercosis skos:exactMatch Orphanet:1560 semapv:UnspecifiedMatching +obo:GARD_8195 Strongyloidiasis skos:exactMatch Orphanet:76 semapv:UnspecifiedMatching +obo:GARD_8197 Smith-Magenis syndrome skos:exactMatch Orphanet:819 semapv:UnspecifiedMatching +obo:GARD_8197 Smith-Magenis syndrome skos:narrowMatch OMIM:182290 semapv:UnspecifiedMatching +obo:GARD_8198 Omenn syndrome skos:exactMatch Orphanet:39041 semapv:UnspecifiedMatching +obo:GARD_8198 Omenn syndrome skos:narrowMatch OMIM:603554 semapv:UnspecifiedMatching +obo:GARD_82 KBG syndrome skos:exactMatch Orphanet:2332 semapv:UnspecifiedMatching +obo:GARD_82 KBG syndrome skos:narrowMatch OMIM:148050 semapv:UnspecifiedMatching +obo:GARD_820 Bardet-biedl syndrome 1 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_820 Bardet-biedl syndrome 1 skos:exactMatch OMIM:209900 semapv:UnspecifiedMatching +obo:GARD_8204 Immunoglobulin A vasculitis skos:exactMatch Orphanet:761 semapv:UnspecifiedMatching +obo:GARD_8206 Congenital generalized hypertrichosis, Ambras type skos:exactMatch Orphanet:1023 semapv:UnspecifiedMatching +obo:GARD_8206 Congenital generalized hypertrichosis, Ambras type skos:narrowMatch OMIM:145701 semapv:UnspecifiedMatching +obo:GARD_8207 Pineocytoma skos:exactMatch Orphanet:251912 semapv:UnspecifiedMatching +obo:GARD_8208 Tropical spastic paraparesis skos:exactMatch Orphanet:289326 semapv:UnspecifiedMatching +obo:GARD_8208 Tropical spastic paraparesis skos:narrowMatch OMIM:159580 semapv:UnspecifiedMatching +obo:GARD_821 Bardet-biedl syndrome 2 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_821 Bardet-biedl syndrome 2 skos:exactMatch OMIM:615981 semapv:UnspecifiedMatching +obo:GARD_8214 Lafora disease skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching +obo:GARD_8214 Lafora disease skos:narrowMatch OMIM:254780 semapv:UnspecifiedMatching +obo:GARD_8216 Mansonelliasis skos:exactMatch Orphanet:2459 semapv:UnspecifiedMatching +obo:GARD_822 Bardet-biedl syndrome 3 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_822 Bardet-biedl syndrome 3 skos:exactMatch OMIM:600151 semapv:UnspecifiedMatching +obo:GARD_8223 B-cell prolymphocytic leukemia skos:exactMatch Orphanet:86852 semapv:UnspecifiedMatching +obo:GARD_8225 Chronic myelomonocytic leukemia skos:exactMatch Orphanet:98823 semapv:UnspecifiedMatching +obo:GARD_823 Bardet-biedl syndrome 4 skos:broadMatch Orphanet:110 semapv:UnspecifiedMatching +obo:GARD_823 Bardet-biedl syndrome 4 skos:exactMatch OMIM:615982 semapv:UnspecifiedMatching +obo:GARD_8231 Non-Langerhans cell histiocytosis skos:exactMatch Orphanet:157987 semapv:UnspecifiedMatching +obo:GARD_8232 Hemangioblastoma skos:exactMatch Orphanet:252054 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:narrowMatch OMIM:230800 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:narrowMatch OMIM:230900 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:narrowMatch OMIM:231000 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:narrowMatch OMIM:231005 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:narrowMatch OMIM:608013 semapv:UnspecifiedMatching +obo:GARD_8233 Gaucher disease skos:narrowMatch OMIM:610539 semapv:UnspecifiedMatching +obo:GARD_8234 Felty syndrome skos:exactMatch Orphanet:47612 semapv:UnspecifiedMatching +obo:GARD_8234 Felty syndrome skos:narrowMatch OMIM:134750 semapv:UnspecifiedMatching +obo:GARD_8238 Choroid plexus carcinoma skos:exactMatch Orphanet:251899 semapv:UnspecifiedMatching +obo:GARD_8238 Choroid plexus carcinoma skos:narrowMatch OMIM:260500 semapv:UnspecifiedMatching +obo:GARD_824 Immunodeficiency by defective expression of MHC class II skos:exactMatch Orphanet:572 semapv:UnspecifiedMatching +obo:GARD_824 Immunodeficiency by defective expression of MHC class II skos:narrowMatch OMIM:209920 semapv:UnspecifiedMatching +obo:GARD_8240 Hypersensitivity pneumonitis, familial skos:broadMatch Orphanet:99908 semapv:UnspecifiedMatching +obo:GARD_8240 Hypersensitivity pneumonitis, familial skos:exactMatch OMIM:145300 semapv:UnspecifiedMatching +obo:GARD_8241 Sea-blue histiocytosis skos:exactMatch Orphanet:158029 semapv:UnspecifiedMatching +obo:GARD_8241 Sea-blue histiocytosis skos:narrowMatch OMIM:269600 semapv:UnspecifiedMatching +obo:GARD_8249 Acquired idiopathic sideroblastic anemia skos:exactMatch Orphanet:75564 semapv:UnspecifiedMatching +obo:GARD_8254 Omsk hemorrhagic fever skos:exactMatch Orphanet:319266 semapv:UnspecifiedMatching +obo:GARD_8257 Kyasanur forest disease skos:exactMatch Orphanet:319254 semapv:UnspecifiedMatching +obo:GARD_8259 Plummer-Vinson syndrome skos:exactMatch Orphanet:54028 semapv:UnspecifiedMatching +obo:GARD_826 Frontometaphyseal dysplasia skos:exactMatch Orphanet:1826 semapv:UnspecifiedMatching +obo:GARD_826 Frontometaphyseal dysplasia skos:narrowMatch OMIM:305620 semapv:UnspecifiedMatching +obo:GARD_826 Frontometaphyseal dysplasia skos:narrowMatch OMIM:617137 semapv:UnspecifiedMatching +obo:GARD_8270 Muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch Orphanet:2349 semapv:UnspecifiedMatching +obo:GARD_8275 Keratolytic winter erythema skos:exactMatch Orphanet:50943 semapv:UnspecifiedMatching +obo:GARD_8275 Keratolytic winter erythema skos:narrowMatch OMIM:148370 semapv:UnspecifiedMatching +obo:GARD_8282 Hereditary amyloidosis with primary renal involvement skos:exactMatch Orphanet:85450 semapv:UnspecifiedMatching +obo:GARD_8282 Hereditary amyloidosis with primary renal involvement skos:narrowMatch OMIM:105200 semapv:UnspecifiedMatching +obo:GARD_8283 Diamond-blackfan anemia 2 skos:broadMatch Orphanet:124 semapv:UnspecifiedMatching +obo:GARD_8283 Diamond-blackfan anemia 2 skos:exactMatch OMIM:606129 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:124000 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615157 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615158 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615159 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615160 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615453 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615824 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:615838 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:616111 semapv:UnspecifiedMatching +obo:GARD_8295 Isolated complex III deficiency skos:narrowMatch OMIM:618775 semapv:UnspecifiedMatching +obo:GARD_83 Autosomal dominant Kenny-Caffey syndrome skos:exactMatch Orphanet:93325 semapv:UnspecifiedMatching +obo:GARD_83 Autosomal dominant Kenny-Caffey syndrome skos:narrowMatch OMIM:127000 semapv:UnspecifiedMatching +obo:GARD_8309 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome skos:exactMatch Orphanet:988 semapv:UnspecifiedMatching +obo:GARD_8309 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome skos:narrowMatch OMIM:188740 semapv:UnspecifiedMatching +obo:GARD_8310 Steinert myotonic dystrophy skos:exactMatch Orphanet:273 semapv:UnspecifiedMatching +obo:GARD_8310 Steinert myotonic dystrophy skos:narrowMatch OMIM:160900 semapv:UnspecifiedMatching +obo:GARD_8312 Pseudo-von Willebrand disease skos:exactMatch Orphanet:52530 semapv:UnspecifiedMatching +obo:GARD_8312 Pseudo-von Willebrand disease skos:narrowMatch OMIM:177820 semapv:UnspecifiedMatching +obo:GARD_8317 Dendritic cell tumor skos:exactMatch Orphanet:98289 semapv:UnspecifiedMatching +obo:GARD_8329 Atelosteogenesis type II skos:exactMatch Orphanet:56304 semapv:UnspecifiedMatching +obo:GARD_8329 Atelosteogenesis type II skos:narrowMatch OMIM:256050 semapv:UnspecifiedMatching +obo:GARD_8331 Mohr-Tranebjaerg syndrome skos:exactMatch Orphanet:52368 semapv:UnspecifiedMatching +obo:GARD_8331 Mohr-Tranebjaerg syndrome skos:narrowMatch OMIM:304700 semapv:UnspecifiedMatching +obo:GARD_8333 Athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching +obo:GARD_8333 Athabaskan brainstem dysgenesis syndrome skos:narrowMatch OMIM:601536 semapv:UnspecifiedMatching +obo:GARD_8334 Amish nemaline myopathy skos:exactMatch Orphanet:98902 semapv:UnspecifiedMatching +obo:GARD_8334 Amish nemaline myopathy skos:narrowMatch OMIM:605355 semapv:UnspecifiedMatching +obo:GARD_8337 IgG4-related mediastinitis skos:exactMatch Orphanet:63999 semapv:UnspecifiedMatching +obo:GARD_8338 PHACE syndrome skos:exactMatch Orphanet:42775 semapv:UnspecifiedMatching +obo:GARD_8338 PHACE syndrome skos:narrowMatch OMIM:140850 semapv:UnspecifiedMatching +obo:GARD_8338 PHACE syndrome skos:narrowMatch OMIM:606519 semapv:UnspecifiedMatching +obo:GARD_8341 Marinesco-Sjögren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching +obo:GARD_8341 Marinesco-Sjögren syndrome skos:narrowMatch OMIM:248800 semapv:UnspecifiedMatching +obo:GARD_8343 Spondylometaphyseal dysplasia, Golden type skos:exactMatch Orphanet:168544 semapv:UnspecifiedMatching +obo:GARD_8343 Spondylometaphyseal dysplasia, Golden type skos:narrowMatch OMIM:313420 semapv:UnspecifiedMatching +obo:GARD_8344 ABri amyloidosis skos:exactMatch Orphanet:97345 semapv:UnspecifiedMatching +obo:GARD_8344 ABri amyloidosis skos:narrowMatch OMIM:176500 semapv:UnspecifiedMatching +obo:GARD_8345 Quebec platelet disorder skos:exactMatch Orphanet:220436 semapv:UnspecifiedMatching +obo:GARD_8345 Quebec platelet disorder skos:narrowMatch OMIM:601709 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:exactMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:204700 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:301200 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:612529 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:613211 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:614832 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:615887 semapv:UnspecifiedMatching +obo:GARD_8349 Hypomaturation amelogenesis imperfecta skos:narrowMatch OMIM:617217 semapv:UnspecifiedMatching +obo:GARD_835 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch Orphanet:1875 semapv:UnspecifiedMatching +obo:GARD_835 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:narrowMatch OMIM:254000 semapv:UnspecifiedMatching +obo:GARD_836 Epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch Orphanet:1948 semapv:UnspecifiedMatching +obo:GARD_836 Epilepsy-microcephaly-skeletal dysplasia syndrome skos:narrowMatch OMIM:601352 semapv:UnspecifiedMatching +obo:GARD_8360 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch Orphanet:85332 semapv:UnspecifiedMatching +obo:GARD_8360 X-linked intellectual disability-retinitis pigmentosa syndrome skos:narrowMatch OMIM:300578 semapv:UnspecifiedMatching +obo:GARD_8367 Autosomal recessive Kenny-Caffey syndrome skos:exactMatch Orphanet:93324 semapv:UnspecifiedMatching +obo:GARD_8367 Autosomal recessive Kenny-Caffey syndrome skos:narrowMatch OMIM:244460 semapv:UnspecifiedMatching +obo:GARD_8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching +obo:GARD_8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:narrowMatch OMIM:220111 semapv:UnspecifiedMatching +obo:GARD_8370 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:narrowMatch OMIM:619065 semapv:UnspecifiedMatching +obo:GARD_8378 Autosomal recessive polycystic kidney disease skos:exactMatch Orphanet:731 semapv:UnspecifiedMatching +obo:GARD_8378 Autosomal recessive polycystic kidney disease skos:narrowMatch OMIM:263200 semapv:UnspecifiedMatching +obo:GARD_8378 Autosomal recessive polycystic kidney disease skos:narrowMatch OMIM:617610 semapv:UnspecifiedMatching +obo:GARD_838 Bazex-Dupré-Christol syndrome skos:exactMatch Orphanet:113 semapv:UnspecifiedMatching +obo:GARD_838 Bazex-Dupré-Christol syndrome skos:narrowMatch OMIM:301845 semapv:UnspecifiedMatching +obo:GARD_8380 Generalized arterial calcification of infancy skos:exactMatch Orphanet:51608 semapv:UnspecifiedMatching +obo:GARD_8380 Generalized arterial calcification of infancy skos:narrowMatch OMIM:208000 semapv:UnspecifiedMatching +obo:GARD_8380 Generalized arterial calcification of infancy skos:narrowMatch OMIM:614473 semapv:UnspecifiedMatching +obo:GARD_8387 3-hydroxy-3-methylglutaric aciduria skos:exactMatch Orphanet:20 semapv:UnspecifiedMatching +obo:GARD_8387 3-hydroxy-3-methylglutaric aciduria skos:narrowMatch OMIM:246450 semapv:UnspecifiedMatching +obo:GARD_8391 Ornithine transcarbamylase deficiency skos:exactMatch Orphanet:664 semapv:UnspecifiedMatching +obo:GARD_8391 Ornithine transcarbamylase deficiency skos:narrowMatch OMIM:311250 semapv:UnspecifiedMatching +obo:GARD_8397 Brain demyelination due to methionine adenosyltransferase deficiency skos:exactMatch Orphanet:168598 semapv:UnspecifiedMatching +obo:GARD_8397 Brain demyelination due to methionine adenosyltransferase deficiency skos:narrowMatch OMIM:250850 semapv:UnspecifiedMatching +obo:GARD_84 Lipodystrophy, congenital generalized, type 1 skos:broadMatch Orphanet:528 semapv:UnspecifiedMatching +obo:GARD_84 Lipodystrophy, congenital generalized, type 1 skos:exactMatch OMIM:608594 semapv:UnspecifiedMatching +obo:GARD_8406 Spermatogenic failure, x-linked, 1 skos:broadMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_8406 Spermatogenic failure, x-linked, 1 skos:exactMatch OMIM:305700 semapv:UnspecifiedMatching +obo:GARD_8407 Feingold syndrome skos:exactMatch Orphanet:1305 semapv:UnspecifiedMatching +obo:GARD_8407 Feingold syndrome skos:narrowMatch OMIM:164280 semapv:UnspecifiedMatching +obo:GARD_8407 Feingold syndrome skos:narrowMatch OMIM:614326 semapv:UnspecifiedMatching +obo:GARD_8410 Postaxial acrofacial dysostosis skos:exactMatch Orphanet:246 semapv:UnspecifiedMatching +obo:GARD_8410 Postaxial acrofacial dysostosis skos:narrowMatch OMIM:263750 semapv:UnspecifiedMatching +obo:GARD_8414 Van der Woude syndrome skos:exactMatch Orphanet:888 semapv:UnspecifiedMatching +obo:GARD_8414 Van der Woude syndrome skos:narrowMatch OMIM:119300 semapv:UnspecifiedMatching +obo:GARD_8414 Van der Woude syndrome skos:narrowMatch OMIM:604547 semapv:UnspecifiedMatching +obo:GARD_8414 Van der Woude syndrome skos:narrowMatch OMIM:606713 semapv:UnspecifiedMatching +obo:GARD_8416 Focal facial dermal dysplasia skos:exactMatch Orphanet:398166 semapv:UnspecifiedMatching +obo:GARD_8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:136500 semapv:UnspecifiedMatching +obo:GARD_8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:227260 semapv:UnspecifiedMatching +obo:GARD_8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:614973 semapv:UnspecifiedMatching +obo:GARD_8416 Focal facial dermal dysplasia skos:narrowMatch OMIM:614974 semapv:UnspecifiedMatching +obo:GARD_8417 Renal cell carcinoma 4 skos:broadMatch Orphanet:217071 semapv:UnspecifiedMatching +obo:GARD_8419 Isolated optic nerve hypoplasia/aplasia skos:exactMatch Orphanet:137902 semapv:UnspecifiedMatching +obo:GARD_8419 Isolated optic nerve hypoplasia/aplasia skos:narrowMatch OMIM:165550 semapv:UnspecifiedMatching +obo:GARD_842 Ankylosing vertebral hyperostosis with tylosis skos:exactMatch Orphanet:2206 semapv:UnspecifiedMatching +obo:GARD_842 Ankylosing vertebral hyperostosis with tylosis skos:narrowMatch OMIM:106400 semapv:UnspecifiedMatching +obo:GARD_8421 Tetrasomy 12p skos:exactMatch Orphanet:884 semapv:UnspecifiedMatching +obo:GARD_8421 Tetrasomy 12p skos:narrowMatch OMIM:601803 semapv:UnspecifiedMatching +obo:GARD_8422 Peters plus syndrome skos:exactMatch Orphanet:709 semapv:UnspecifiedMatching +obo:GARD_8422 Peters plus syndrome skos:narrowMatch OMIM:261540 semapv:UnspecifiedMatching +obo:GARD_8423 Richards-Rundle syndrome skos:exactMatch Orphanet:1399 semapv:UnspecifiedMatching +obo:GARD_8423 Richards-Rundle syndrome skos:narrowMatch OMIM:245100 semapv:UnspecifiedMatching +obo:GARD_8424 Iminoglycinuria skos:exactMatch Orphanet:42062 semapv:UnspecifiedMatching +obo:GARD_8424 Iminoglycinuria skos:narrowMatch OMIM:242600 semapv:UnspecifiedMatching +obo:GARD_8426 Thyroid hypoplasia skos:exactMatch Orphanet:95720 semapv:UnspecifiedMatching +obo:GARD_8426 Thyroid hypoplasia skos:narrowMatch OMIM:218700 semapv:UnspecifiedMatching +obo:GARD_8426 Thyroid hypoplasia skos:narrowMatch OMIM:225250 semapv:UnspecifiedMatching +obo:GARD_8427 Immunodeficiency by defective expression of MHC class I skos:exactMatch Orphanet:34592 semapv:UnspecifiedMatching +obo:GARD_8427 Immunodeficiency by defective expression of MHC class I skos:narrowMatch OMIM:241600 semapv:UnspecifiedMatching +obo:GARD_8427 Immunodeficiency by defective expression of MHC class I skos:narrowMatch OMIM:604571 semapv:UnspecifiedMatching +obo:GARD_8428 Crane-Heise syndrome skos:exactMatch Orphanet:1512 semapv:UnspecifiedMatching +obo:GARD_8428 Crane-Heise syndrome skos:narrowMatch OMIM:218090 semapv:UnspecifiedMatching +obo:GARD_8432 Native American myopathy skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching +obo:GARD_8432 Native American myopathy skos:narrowMatch OMIM:255995 semapv:UnspecifiedMatching +obo:GARD_8433 King-Denborough syndrome skos:exactMatch Orphanet:99741 semapv:UnspecifiedMatching +obo:GARD_8433 King-Denborough syndrome skos:narrowMatch OMIM:145600 semapv:UnspecifiedMatching +obo:GARD_8435 Persistent Müllerian duct syndrome skos:exactMatch Orphanet:2856 semapv:UnspecifiedMatching +obo:GARD_8435 Persistent Müllerian duct syndrome skos:narrowMatch OMIM:261550 semapv:UnspecifiedMatching +obo:GARD_8436 Frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching +obo:GARD_8436 Frontotemporal dementia skos:narrowMatch OMIM:172700 semapv:UnspecifiedMatching +obo:GARD_8436 Frontotemporal dementia skos:narrowMatch OMIM:600274 semapv:UnspecifiedMatching +obo:GARD_8436 Frontotemporal dementia skos:narrowMatch OMIM:600795 semapv:UnspecifiedMatching +obo:GARD_8436 Frontotemporal dementia skos:narrowMatch OMIM:607485 semapv:UnspecifiedMatching +obo:GARD_8438 Isolated anterior cervical hypertrichosis skos:exactMatch Orphanet:3387 semapv:UnspecifiedMatching +obo:GARD_8438 Isolated anterior cervical hypertrichosis skos:narrowMatch OMIM:600457 semapv:UnspecifiedMatching +obo:GARD_844 Myotonia congenita, autosomal recessive skos:broadMatch Orphanet:614 semapv:UnspecifiedMatching +obo:GARD_844 Myotonia congenita, autosomal recessive skos:exactMatch OMIM:255700 semapv:UnspecifiedMatching +obo:GARD_8449 Keutel syndrome skos:exactMatch Orphanet:85202 semapv:UnspecifiedMatching +obo:GARD_8449 Keutel syndrome skos:narrowMatch OMIM:245150 semapv:UnspecifiedMatching +obo:GARD_8457 Tumor necrosis factor receptor 1 associated periodic syndrome skos:exactMatch Orphanet:32960 semapv:UnspecifiedMatching +obo:GARD_8457 Tumor necrosis factor receptor 1 associated periodic syndrome skos:narrowMatch OMIM:142680 semapv:UnspecifiedMatching +obo:GARD_846 Beemer-Ertbruggen syndrome skos:exactMatch Orphanet:1237 semapv:UnspecifiedMatching +obo:GARD_846 Beemer-Ertbruggen syndrome skos:narrowMatch OMIM:209970 semapv:UnspecifiedMatching +obo:GARD_8466 Autoimmune polyendocrinopathy type 1 skos:exactMatch Orphanet:3453 semapv:UnspecifiedMatching +obo:GARD_8466 Autoimmune polyendocrinopathy type 1 skos:narrowMatch OMIM:240300 semapv:UnspecifiedMatching +obo:GARD_8468 Melanoma and neural system tumor syndrome skos:exactMatch Orphanet:252206 semapv:UnspecifiedMatching +obo:GARD_8468 Melanoma and neural system tumor syndrome skos:narrowMatch OMIM:155755 semapv:UnspecifiedMatching +obo:GARD_8471 X-linked recessive ocular albinism skos:exactMatch Orphanet:54 semapv:UnspecifiedMatching +obo:GARD_8471 X-linked recessive ocular albinism skos:narrowMatch OMIM:300500 semapv:UnspecifiedMatching +obo:GARD_8472 Muckle-Wells syndrome skos:exactMatch Orphanet:575 semapv:UnspecifiedMatching +obo:GARD_8472 Muckle-Wells syndrome skos:narrowMatch OMIM:191900 semapv:UnspecifiedMatching +obo:GARD_8476 Leber plus disease skos:exactMatch Orphanet:99718 semapv:UnspecifiedMatching +obo:GARD_8476 Leber plus disease skos:narrowMatch OMIM:165200 semapv:UnspecifiedMatching +obo:GARD_8476 Leber plus disease skos:narrowMatch OMIM:500001 semapv:UnspecifiedMatching +obo:GARD_8479 Familial multiple discoid fibromas skos:exactMatch Orphanet:538756 semapv:UnspecifiedMatching +obo:GARD_8479 Familial multiple discoid fibromas skos:narrowMatch OMIM:190340 semapv:UnspecifiedMatching +obo:GARD_848 Behçet disease skos:exactMatch Orphanet:117 semapv:UnspecifiedMatching +obo:GARD_848 Behçet disease skos:narrowMatch OMIM:109650 semapv:UnspecifiedMatching +obo:GARD_8480 Autosomal recessive cutis laxa type 1 skos:exactMatch Orphanet:90349 semapv:UnspecifiedMatching +obo:GARD_8480 Autosomal recessive cutis laxa type 1 skos:narrowMatch OMIM:219100 semapv:UnspecifiedMatching +obo:GARD_8480 Autosomal recessive cutis laxa type 1 skos:narrowMatch OMIM:614437 semapv:UnspecifiedMatching +obo:GARD_8485 Acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching +obo:GARD_8485 Acropectoral syndrome skos:narrowMatch OMIM:605967 semapv:UnspecifiedMatching +obo:GARD_8486 Musculocontractural Ehlers-Danlos syndrome skos:exactMatch Orphanet:2953 semapv:UnspecifiedMatching +obo:GARD_8486 Musculocontractural Ehlers-Danlos syndrome skos:narrowMatch OMIM:601776 semapv:UnspecifiedMatching +obo:GARD_8486 Musculocontractural Ehlers-Danlos syndrome skos:narrowMatch OMIM:615539 semapv:UnspecifiedMatching +obo:GARD_8487 Infantile digital fibromatosis skos:exactMatch Orphanet:199267 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:exactMatch Orphanet:319487 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:188470 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:188550 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:603386 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:603744 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:606240 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:616534 semapv:UnspecifiedMatching +obo:GARD_8488 Familial papillary or follicular thyroid carcinoma skos:narrowMatch OMIM:616535 semapv:UnspecifiedMatching +obo:GARD_8491 Meningioma, radiation-induced skos:broadMatch Orphanet:2495 semapv:UnspecifiedMatching +obo:GARD_8491 Meningioma, radiation-induced skos:exactMatch OMIM:606190 semapv:UnspecifiedMatching +obo:GARD_8495 African iron overload skos:exactMatch Orphanet:139507 semapv:UnspecifiedMatching +obo:GARD_8495 African iron overload skos:narrowMatch OMIM:601195 semapv:UnspecifiedMatching +obo:GARD_8497 Usher syndrome, type iic skos:broadMatch Orphanet:231178 semapv:UnspecifiedMatching +obo:GARD_8497 Usher syndrome, type iic skos:exactMatch OMIM:605472 semapv:UnspecifiedMatching +obo:GARD_85 Thanatophoric dysplasia skos:exactMatch Orphanet:2655 semapv:UnspecifiedMatching +obo:GARD_85 Thanatophoric dysplasia skos:narrowMatch OMIM:156830 semapv:UnspecifiedMatching +obo:GARD_85 Thanatophoric dysplasia skos:narrowMatch OMIM:187600 semapv:UnspecifiedMatching +obo:GARD_85 Thanatophoric dysplasia skos:narrowMatch OMIM:187601 semapv:UnspecifiedMatching +obo:GARD_8501 White sponge nevus skos:exactMatch Orphanet:171723 semapv:UnspecifiedMatching +obo:GARD_8501 White sponge nevus skos:narrowMatch OMIM:193900 semapv:UnspecifiedMatching +obo:GARD_8501 White sponge nevus skos:narrowMatch OMIM:615785 semapv:UnspecifiedMatching +obo:GARD_8505 X-linked Ehlers-Danlos syndrome skos:exactMatch Orphanet:75497 semapv:UnspecifiedMatching +obo:GARD_8507 Classical-like Ehlers-Danlos syndrome type 1 skos:exactMatch Orphanet:230839 semapv:UnspecifiedMatching +obo:GARD_8507 Classical-like Ehlers-Danlos syndrome type 1 skos:narrowMatch OMIM:606408 semapv:UnspecifiedMatching +obo:GARD_8509 AREDYLD syndrome skos:exactMatch Orphanet:1133 semapv:UnspecifiedMatching +obo:GARD_8509 AREDYLD syndrome skos:narrowMatch OMIM:207780 semapv:UnspecifiedMatching +obo:GARD_8517 Huriez syndrome skos:exactMatch Orphanet:384 semapv:UnspecifiedMatching +obo:GARD_8517 Huriez syndrome skos:narrowMatch OMIM:181600 semapv:UnspecifiedMatching +obo:GARD_8520 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome skos:exactMatch Orphanet:1568 semapv:UnspecifiedMatching +obo:GARD_8520 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome skos:narrowMatch OMIM:304340 semapv:UnspecifiedMatching +obo:GARD_8521 Infantile-onset X-linked spinal muscular atrophy skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching +obo:GARD_8521 Infantile-onset X-linked spinal muscular atrophy skos:narrowMatch OMIM:301830 semapv:UnspecifiedMatching +obo:GARD_8526 Diffuse panbronchiolitis skos:exactMatch Orphanet:171700 semapv:UnspecifiedMatching +obo:GARD_8526 Diffuse panbronchiolitis skos:narrowMatch OMIM:604809 semapv:UnspecifiedMatching +obo:GARD_8527 Pulmonary venoocclusive disease 2, autosomal recessive skos:broadMatch Orphanet:199241 semapv:UnspecifiedMatching +obo:GARD_8527 Pulmonary venoocclusive disease 2, autosomal recessive skos:exactMatch OMIM:234810 semapv:UnspecifiedMatching +obo:GARD_8528 HELLP syndrome skos:exactMatch Orphanet:244242 semapv:UnspecifiedMatching +obo:GARD_8529 Macrodactyly of fingers skos:exactMatch Orphanet:295044 semapv:UnspecifiedMatching +obo:GARD_853 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:exactMatch Orphanet:100978 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:108420 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:258150 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:270960 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:305700 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:309120 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:613957 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615081 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615413 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615841 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:615842 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:616950 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617706 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617707 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:617960 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618086 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618110 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:618115 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:619108 semapv:UnspecifiedMatching +obo:GARD_8530 Male infertility with azoospermia or oligozoospermia due to single gene mutation skos:narrowMatch OMIM:619202 semapv:UnspecifiedMatching +obo:GARD_8531 3mc syndrome 3 skos:broadMatch Orphanet:293843 semapv:UnspecifiedMatching +obo:GARD_8531 3mc syndrome 3 skos:exactMatch OMIM:248340 semapv:UnspecifiedMatching +obo:GARD_8532 Attenuated familial adenomatous polyposis skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching +obo:GARD_8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:175100 semapv:UnspecifiedMatching +obo:GARD_8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:608456 semapv:UnspecifiedMatching +obo:GARD_8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:612591 semapv:UnspecifiedMatching +obo:GARD_8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:615083 semapv:UnspecifiedMatching +obo:GARD_8532 Attenuated familial adenomatous polyposis skos:narrowMatch OMIM:616415 semapv:UnspecifiedMatching +obo:GARD_8533 Hereditary nonpolyposis colon cancer skos:exactMatch Orphanet:443909 semapv:UnspecifiedMatching +obo:GARD_8535 Congenital central hypoventilation syndrome skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching +obo:GARD_8535 Congenital central hypoventilation syndrome skos:narrowMatch OMIM:209880 semapv:UnspecifiedMatching +obo:GARD_8538 46,XY disorder of sex development skos:exactMatch Orphanet:98085 semapv:UnspecifiedMatching +obo:GARD_8539 Urocanic aciduria skos:exactMatch Orphanet:210128 semapv:UnspecifiedMatching +obo:GARD_8539 Urocanic aciduria skos:narrowMatch OMIM:276880 semapv:UnspecifiedMatching +obo:GARD_8541 Primary progressive aphasia skos:exactMatch Orphanet:95432 semapv:UnspecifiedMatching +obo:GARD_8542 Chondrodysplasia punctata skos:exactMatch Orphanet:93442 semapv:UnspecifiedMatching +obo:GARD_8547 Gitelman syndrome skos:exactMatch Orphanet:358 semapv:UnspecifiedMatching +obo:GARD_8547 Gitelman syndrome skos:narrowMatch OMIM:263800 semapv:UnspecifiedMatching +obo:GARD_8548 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch Orphanet:98856 semapv:UnspecifiedMatching +obo:GARD_8548 Charcot-Marie-Tooth disease type 2B1 skos:narrowMatch OMIM:605588 semapv:UnspecifiedMatching +obo:GARD_8549 Moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching +obo:GARD_8549 Moebius syndrome skos:narrowMatch OMIM:157900 semapv:UnspecifiedMatching +obo:GARD_8550 Dermatopathia pigmentosa reticularis skos:exactMatch Orphanet:86920 semapv:UnspecifiedMatching +obo:GARD_8550 Dermatopathia pigmentosa reticularis skos:narrowMatch OMIM:125595 semapv:UnspecifiedMatching +obo:GARD_8553 Infantile convulsions and choreoathetosis skos:exactMatch Orphanet:31709 semapv:UnspecifiedMatching +obo:GARD_8553 Infantile convulsions and choreoathetosis skos:narrowMatch OMIM:602066 semapv:UnspecifiedMatching +obo:GARD_8555 Dense deposit disease skos:exactMatch Orphanet:93571 semapv:UnspecifiedMatching +obo:GARD_8555 Dense deposit disease skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_8557 Intellectual developmental disorder, x-linked 14 skos:broadMatch Orphanet:777 semapv:UnspecifiedMatching +obo:GARD_8557 Intellectual developmental disorder, x-linked 14 skos:exactMatch OMIM:300062 semapv:UnspecifiedMatching +obo:GARD_8559 Wilms tumor 2 skos:broadMatch Orphanet:654 semapv:UnspecifiedMatching +obo:GARD_8559 Wilms tumor 2 skos:exactMatch OMIM:194071 semapv:UnspecifiedMatching +obo:GARD_856 Seizures, benign familial infantile, 1 skos:broadMatch Orphanet:306 semapv:UnspecifiedMatching +obo:GARD_856 Seizures, benign familial infantile, 1 skos:exactMatch OMIM:601764 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:210600 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:600546 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:606744 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:613676 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:613823 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:615807 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:616051 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:616171 semapv:UnspecifiedMatching +obo:GARD_8562 Seckel syndrome skos:narrowMatch OMIM:616777 semapv:UnspecifiedMatching +obo:GARD_8563 Primary orthostatic tremor skos:exactMatch Orphanet:238606 semapv:UnspecifiedMatching +obo:GARD_857 Benign familial infantile epilepsy skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching +obo:GARD_857 Benign familial infantile epilepsy skos:narrowMatch OMIM:601764 semapv:UnspecifiedMatching +obo:GARD_857 Benign familial infantile epilepsy skos:narrowMatch OMIM:605751 semapv:UnspecifiedMatching +obo:GARD_857 Benign familial infantile epilepsy skos:narrowMatch OMIM:607745 semapv:UnspecifiedMatching +obo:GARD_857 Benign familial infantile epilepsy skos:narrowMatch OMIM:612627 semapv:UnspecifiedMatching +obo:GARD_857 Benign familial infantile epilepsy skos:narrowMatch OMIM:617080 semapv:UnspecifiedMatching +obo:GARD_8570 Steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch Orphanet:83601 semapv:UnspecifiedMatching +obo:GARD_8573 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:exactMatch Orphanet:219 semapv:UnspecifiedMatching +obo:GARD_8573 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 skos:narrowMatch OMIM:601287 semapv:UnspecifiedMatching +obo:GARD_8574 Dysferlin-related limb-girdle muscular dystrophy R2 skos:exactMatch Orphanet:268 semapv:UnspecifiedMatching +obo:GARD_8574 Dysferlin-related limb-girdle muscular dystrophy R2 skos:narrowMatch OMIM:253601 semapv:UnspecifiedMatching +obo:GARD_8577 Panuveitis skos:exactMatch Orphanet:280898 semapv:UnspecifiedMatching +obo:GARD_8578 Parkinson disease 3, autosomal dominant skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_8578 Parkinson disease 3, autosomal dominant skos:exactMatch OMIM:602404 semapv:UnspecifiedMatching +obo:GARD_8580 Vitamin K antagonist embryofetopathy skos:exactMatch Orphanet:1914 semapv:UnspecifiedMatching +obo:GARD_8583 Isolated hereditary congenital facial paralysis skos:exactMatch Orphanet:306527 semapv:UnspecifiedMatching +obo:GARD_8583 Isolated hereditary congenital facial paralysis skos:narrowMatch OMIM:601471 semapv:UnspecifiedMatching +obo:GARD_8585 Cantú syndrome skos:exactMatch Orphanet:1517 semapv:UnspecifiedMatching +obo:GARD_8585 Cantú syndrome skos:narrowMatch OMIM:239850 semapv:UnspecifiedMatching +obo:GARD_8586 Cardiocranial syndrome, Pfeiffer type skos:exactMatch Orphanet:2872 semapv:UnspecifiedMatching +obo:GARD_8586 Cardiocranial syndrome, Pfeiffer type skos:narrowMatch OMIM:218450 semapv:UnspecifiedMatching +obo:GARD_8588 Hypercholesterolemia, familial, 2 skos:broadMatch Orphanet:391665 semapv:UnspecifiedMatching +obo:GARD_8588 Hypercholesterolemia, familial, 2 skos:exactMatch OMIM:144010 semapv:UnspecifiedMatching +obo:GARD_8591 X-linked visceral heterotaxy 1 skos:broadMatch Orphanet:450 semapv:UnspecifiedMatching +obo:GARD_8591 X-linked visceral heterotaxy 1 skos:relatedMatch OMIM:306955 semapv:UnspecifiedMatching +obo:GARD_8592 Spinal muscular atrophy with respiratory distress type 1 skos:exactMatch Orphanet:98920 semapv:UnspecifiedMatching +obo:GARD_8592 Spinal muscular atrophy with respiratory distress type 1 skos:narrowMatch OMIM:604320 semapv:UnspecifiedMatching +obo:GARD_8593 Morgagni-Stewart-Morel syndrome skos:exactMatch Orphanet:77296 semapv:UnspecifiedMatching +obo:GARD_8593 Morgagni-Stewart-Morel syndrome skos:narrowMatch OMIM:144800 semapv:UnspecifiedMatching +obo:GARD_8595 Ataxia with vitamin E deficiency skos:exactMatch Orphanet:96 semapv:UnspecifiedMatching +obo:GARD_8595 Ataxia with vitamin E deficiency skos:narrowMatch OMIM:277460 semapv:UnspecifiedMatching +obo:GARD_8598 Gastrointestinal stromal tumor skos:exactMatch Orphanet:44890 semapv:UnspecifiedMatching +obo:GARD_8598 Gastrointestinal stromal tumor skos:narrowMatch OMIM:175510 semapv:UnspecifiedMatching +obo:GARD_8598 Gastrointestinal stromal tumor skos:narrowMatch OMIM:606764 semapv:UnspecifiedMatching +obo:GARD_86 Chudley-McCullough syndrome skos:exactMatch Orphanet:314597 semapv:UnspecifiedMatching +obo:GARD_86 Chudley-McCullough syndrome skos:narrowMatch OMIM:604213 semapv:UnspecifiedMatching +obo:GARD_860 Cryptorchidism-arachnodactyly-intellectual disability syndrome skos:exactMatch Orphanet:1548 semapv:UnspecifiedMatching +obo:GARD_8600 Saldino-Mainzer syndrome skos:exactMatch Orphanet:140969 semapv:UnspecifiedMatching +obo:GARD_8600 Saldino-Mainzer syndrome skos:narrowMatch OMIM:266920 semapv:UnspecifiedMatching +obo:GARD_8600 Saldino-Mainzer syndrome skos:narrowMatch OMIM:615630 semapv:UnspecifiedMatching +obo:GARD_8605 Acquired angioedema skos:exactMatch Orphanet:91385 semapv:UnspecifiedMatching +obo:GARD_8605 Acquired angioedema skos:narrowMatch OMIM:300909 semapv:UnspecifiedMatching +obo:GARD_8606 Amish lethal microcephaly skos:exactMatch Orphanet:99742 semapv:UnspecifiedMatching +obo:GARD_8606 Amish lethal microcephaly skos:narrowMatch OMIM:607196 semapv:UnspecifiedMatching +obo:GARD_8609 Idiopathic pulmonary fibrosis skos:exactMatch Orphanet:2032 semapv:UnspecifiedMatching +obo:GARD_8609 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:178500 semapv:UnspecifiedMatching +obo:GARD_8609 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:616371 semapv:UnspecifiedMatching +obo:GARD_8609 Idiopathic pulmonary fibrosis skos:narrowMatch OMIM:616373 semapv:UnspecifiedMatching +obo:GARD_8610 Harlequin syndrome skos:exactMatch Orphanet:199282 semapv:UnspecifiedMatching +obo:GARD_8614 Sickle cell anemia skos:exactMatch Orphanet:232 semapv:UnspecifiedMatching +obo:GARD_8614 Sickle cell anemia skos:narrowMatch OMIM:603903 semapv:UnspecifiedMatching +obo:GARD_8616 Systemic mastocytosis skos:exactMatch Orphanet:2467 semapv:UnspecifiedMatching +obo:GARD_8618 Primary myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatching +obo:GARD_8618 Primary myelofibrosis skos:narrowMatch OMIM:254450 semapv:UnspecifiedMatching +obo:GARD_8621 Uveal melanoma skos:exactMatch Orphanet:39044 semapv:UnspecifiedMatching +obo:GARD_8621 Uveal melanoma skos:narrowMatch OMIM:155720 semapv:UnspecifiedMatching +obo:GARD_8621 Uveal melanoma skos:narrowMatch OMIM:606660 semapv:UnspecifiedMatching +obo:GARD_8621 Uveal melanoma skos:narrowMatch OMIM:606661 semapv:UnspecifiedMatching +obo:GARD_8622 Good syndrome skos:exactMatch Orphanet:169105 semapv:UnspecifiedMatching +obo:GARD_8623 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome skos:exactMatch Orphanet:2521 semapv:UnspecifiedMatching +obo:GARD_8625 Reticular dysgenesis skos:exactMatch Orphanet:33355 semapv:UnspecifiedMatching +obo:GARD_8625 Reticular dysgenesis skos:narrowMatch OMIM:267500 semapv:UnspecifiedMatching +obo:GARD_8631 Monosomy 18p skos:exactMatch Orphanet:1598 semapv:UnspecifiedMatching +obo:GARD_8631 Monosomy 18p skos:narrowMatch OMIM:146390 semapv:UnspecifiedMatching +obo:GARD_8638 Acute leukemia of ambiguous lineage skos:exactMatch Orphanet:86851 semapv:UnspecifiedMatching +obo:GARD_8638 Acute leukemia of ambiguous lineage skos:narrowMatch OMIM:601626 semapv:UnspecifiedMatching +obo:GARD_8639 Acute disseminated encephalomyelitis skos:exactMatch Orphanet:83597 semapv:UnspecifiedMatching +obo:GARD_8640 Acute zonal occult outer retinopathy skos:exactMatch Orphanet:284454 semapv:UnspecifiedMatching +obo:GARD_8644 Congenital alveolar capillary dysplasia skos:exactMatch Orphanet:210122 semapv:UnspecifiedMatching +obo:GARD_8644 Congenital alveolar capillary dysplasia skos:narrowMatch OMIM:265380 semapv:UnspecifiedMatching +obo:GARD_8653 Erythema elevatum diutinum skos:exactMatch Orphanet:90000 semapv:UnspecifiedMatching +obo:GARD_8659 Fibular hemimelia skos:exactMatch Orphanet:93323 semapv:UnspecifiedMatching +obo:GARD_8660 Gerstmann syndrome skos:exactMatch Orphanet:221117 semapv:UnspecifiedMatching +obo:GARD_8661 Gastroschisis skos:exactMatch Orphanet:2368 semapv:UnspecifiedMatching +obo:GARD_8661 Gastroschisis skos:narrowMatch OMIM:230750 semapv:UnspecifiedMatching +obo:GARD_8663 Auriculoosteodysplasia skos:exactMatch Orphanet:114 semapv:UnspecifiedMatching +obo:GARD_8663 Auriculoosteodysplasia skos:narrowMatch OMIM:109000 semapv:UnspecifiedMatching +obo:GARD_867 Chronic beryllium disease skos:exactMatch Orphanet:133 semapv:UnspecifiedMatching +obo:GARD_8672 Kleefstra syndrome skos:exactMatch Orphanet:261494 semapv:UnspecifiedMatching +obo:GARD_8672 Kleefstra syndrome skos:narrowMatch OMIM:610253 semapv:UnspecifiedMatching +obo:GARD_8683 Crigler-Najjar syndrome type 2 skos:exactMatch Orphanet:79235 semapv:UnspecifiedMatching +obo:GARD_8683 Crigler-Najjar syndrome type 2 skos:narrowMatch OMIM:606785 semapv:UnspecifiedMatching +obo:GARD_8686 Autoimmune lymphoproliferative syndrome skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching +obo:GARD_8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:601859 semapv:UnspecifiedMatching +obo:GARD_8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:603909 semapv:UnspecifiedMatching +obo:GARD_8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:615559 semapv:UnspecifiedMatching +obo:GARD_8686 Autoimmune lymphoproliferative syndrome skos:narrowMatch OMIM:618534 semapv:UnspecifiedMatching +obo:GARD_8689 Severe immune-mediated enteropathy skos:exactMatch Orphanet:94075 semapv:UnspecifiedMatching +obo:GARD_869 Beta-mannosidosis skos:exactMatch Orphanet:118 semapv:UnspecifiedMatching +obo:GARD_869 Beta-mannosidosis skos:narrowMatch OMIM:248510 semapv:UnspecifiedMatching +obo:GARD_8692 Whooping cough skos:exactMatch Orphanet:1489 semapv:UnspecifiedMatching +obo:GARD_8694 Osteogenesis imperfecta type 1 skos:exactMatch Orphanet:216796 semapv:UnspecifiedMatching +obo:GARD_8694 Osteogenesis imperfecta type 1 skos:narrowMatch OMIM:166200 semapv:UnspecifiedMatching +obo:GARD_8694 Osteogenesis imperfecta type 1 skos:narrowMatch OMIM:166230 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:259420 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:610915 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:610968 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:613848 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:613982 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:614856 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:615220 semapv:UnspecifiedMatching +obo:GARD_8695 Osteogenesis imperfecta type 3 skos:narrowMatch OMIM:616229 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:exactMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:166220 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:259440 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:610682 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:610968 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:613849 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:613982 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:615066 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:615220 semapv:UnspecifiedMatching +obo:GARD_8696 Osteogenesis imperfecta type 4 skos:narrowMatch OMIM:616507 semapv:UnspecifiedMatching +obo:GARD_8698 Gnathodiaphyseal dysplasia skos:exactMatch Orphanet:53697 semapv:UnspecifiedMatching +obo:GARD_8698 Gnathodiaphyseal dysplasia skos:narrowMatch OMIM:166260 semapv:UnspecifiedMatching +obo:GARD_8699 Osteogenesis imperfecta type 5 skos:exactMatch Orphanet:216828 semapv:UnspecifiedMatching +obo:GARD_8699 Osteogenesis imperfecta type 5 skos:narrowMatch OMIM:610967 semapv:UnspecifiedMatching +obo:GARD_87 Microphthalmia, Lenz type skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching +obo:GARD_87 Microphthalmia, Lenz type skos:narrowMatch OMIM:300166 semapv:UnspecifiedMatching +obo:GARD_87 Microphthalmia, Lenz type skos:narrowMatch OMIM:309800 semapv:UnspecifiedMatching +obo:GARD_8700 Osteogenesis imperfecta, type vi skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_8700 Osteogenesis imperfecta, type vi skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_8700 Osteogenesis imperfecta, type vi skos:exactMatch OMIM:613982 semapv:UnspecifiedMatching +obo:GARD_8701 Osteogenesis imperfecta, type vii skos:broadMatch Orphanet:216804 semapv:UnspecifiedMatching +obo:GARD_8701 Osteogenesis imperfecta, type vii skos:broadMatch Orphanet:216812 semapv:UnspecifiedMatching +obo:GARD_8701 Osteogenesis imperfecta, type vii skos:broadMatch Orphanet:216820 semapv:UnspecifiedMatching +obo:GARD_8701 Osteogenesis imperfecta, type vii skos:exactMatch OMIM:610682 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:exactMatch Orphanet:2134 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:235400 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:609814 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612922 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612923 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612924 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612925 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:612926 semapv:UnspecifiedMatching +obo:GARD_8702 Atypical hemolytic uremic syndrome skos:narrowMatch OMIM:615008 semapv:UnspecifiedMatching +obo:GARD_8703 Primary angiitis of the central nervous system skos:exactMatch Orphanet:140989 semapv:UnspecifiedMatching +obo:GARD_8707 Tibial hemimelia skos:exactMatch Orphanet:93322 semapv:UnspecifiedMatching +obo:GARD_8707 Tibial hemimelia skos:narrowMatch OMIM:275220 semapv:UnspecifiedMatching +obo:GARD_8709 Patella aplasia/hypoplasia skos:exactMatch Orphanet:86789 semapv:UnspecifiedMatching +obo:GARD_8709 Patella aplasia/hypoplasia skos:narrowMatch OMIM:168860 semapv:UnspecifiedMatching +obo:GARD_871 Beta-thalassemia skos:exactMatch Orphanet:848 semapv:UnspecifiedMatching +obo:GARD_871 Beta-thalassemia skos:narrowMatch OMIM:603902 semapv:UnspecifiedMatching +obo:GARD_871 Beta-thalassemia skos:narrowMatch OMIM:613985 semapv:UnspecifiedMatching +obo:GARD_8711 Spheroid body myopathy skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching +obo:GARD_8711 Spheroid body myopathy skos:narrowMatch OMIM:182920 semapv:UnspecifiedMatching +obo:GARD_8713 Achondrogenesis type 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching +obo:GARD_8713 Achondrogenesis type 2 skos:narrowMatch OMIM:200610 semapv:UnspecifiedMatching +obo:GARD_8717 Odontochondrodysplasia skos:exactMatch Orphanet:166272 semapv:UnspecifiedMatching +obo:GARD_8717 Odontochondrodysplasia skos:narrowMatch OMIM:184260 semapv:UnspecifiedMatching +obo:GARD_8719 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch Orphanet:168552 semapv:UnspecifiedMatching +obo:GARD_8719 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:narrowMatch OMIM:607543 semapv:UnspecifiedMatching +obo:GARD_872 Beta-ketothiolase deficiency skos:exactMatch Orphanet:134 semapv:UnspecifiedMatching +obo:GARD_872 Beta-ketothiolase deficiency skos:narrowMatch OMIM:203750 semapv:UnspecifiedMatching +obo:GARD_8720 Axial spondylometaphyseal dysplasia skos:exactMatch Orphanet:168549 semapv:UnspecifiedMatching +obo:GARD_8720 Axial spondylometaphyseal dysplasia skos:narrowMatch OMIM:602271 semapv:UnspecifiedMatching +obo:GARD_8721 Paroxysmal kinesigenic dyskinesia skos:exactMatch Orphanet:98809 semapv:UnspecifiedMatching +obo:GARD_8721 Paroxysmal kinesigenic dyskinesia skos:narrowMatch OMIM:128200 semapv:UnspecifiedMatching +obo:GARD_8721 Paroxysmal kinesigenic dyskinesia skos:narrowMatch OMIM:611031 semapv:UnspecifiedMatching +obo:GARD_8722 Paroxysmal non-kinesigenic dyskinesia skos:exactMatch Orphanet:98810 semapv:UnspecifiedMatching +obo:GARD_8722 Paroxysmal non-kinesigenic dyskinesia skos:narrowMatch OMIM:118800 semapv:UnspecifiedMatching +obo:GARD_8722 Paroxysmal non-kinesigenic dyskinesia skos:narrowMatch OMIM:611147 semapv:UnspecifiedMatching +obo:GARD_8723 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:exactMatch Orphanet:86841 semapv:UnspecifiedMatching +obo:GARD_8723 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality skos:narrowMatch OMIM:153550 semapv:UnspecifiedMatching +obo:GARD_873 Bethlem myopathy skos:exactMatch Orphanet:610 semapv:UnspecifiedMatching +obo:GARD_873 Bethlem myopathy skos:narrowMatch OMIM:158810 semapv:UnspecifiedMatching +obo:GARD_873 Bethlem myopathy skos:narrowMatch OMIM:616471 semapv:UnspecifiedMatching +obo:GARD_8732 Hemophilia B skos:exactMatch Orphanet:98879 semapv:UnspecifiedMatching +obo:GARD_8732 Hemophilia B skos:narrowMatch OMIM:306900 semapv:UnspecifiedMatching +obo:GARD_8735 Childhood-onset hypophosphatasia skos:exactMatch Orphanet:247667 semapv:UnspecifiedMatching +obo:GARD_8735 Childhood-onset hypophosphatasia skos:narrowMatch OMIM:241510 semapv:UnspecifiedMatching +obo:GARD_8737 Idiopathic hypersomnia skos:exactMatch Orphanet:33208 semapv:UnspecifiedMatching +obo:GARD_8743 Meckel syndrome, type 2 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_8743 Meckel syndrome, type 2 skos:exactMatch OMIM:603194 semapv:UnspecifiedMatching +obo:GARD_8744 Meckel syndrome, type 3 skos:broadMatch Orphanet:564 semapv:UnspecifiedMatching +obo:GARD_8744 Meckel syndrome, type 3 skos:exactMatch OMIM:607361 semapv:UnspecifiedMatching +obo:GARD_8754 Greenberg dysplasia skos:exactMatch Orphanet:1426 semapv:UnspecifiedMatching +obo:GARD_8754 Greenberg dysplasia skos:narrowMatch OMIM:215140 semapv:UnspecifiedMatching +obo:GARD_8755 Arrhinia-choanal atresia-microphthalmia syndrome skos:exactMatch Orphanet:1135 semapv:UnspecifiedMatching +obo:GARD_8755 Arrhinia-choanal atresia-microphthalmia syndrome skos:narrowMatch OMIM:603457 semapv:UnspecifiedMatching +obo:GARD_8756 Lethal ataxia with deafness and optic atrophy skos:exactMatch Orphanet:1187 semapv:UnspecifiedMatching +obo:GARD_8756 Lethal ataxia with deafness and optic atrophy skos:narrowMatch OMIM:301835 semapv:UnspecifiedMatching +obo:GARD_8757 Pleuropulmonary blastoma skos:exactMatch Orphanet:64742 semapv:UnspecifiedMatching +obo:GARD_8757 Pleuropulmonary blastoma skos:narrowMatch OMIM:601200 semapv:UnspecifiedMatching +obo:GARD_8759 Ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 semapv:UnspecifiedMatching +obo:GARD_88 Leri pleonosteosis skos:exactMatch Orphanet:2900 semapv:UnspecifiedMatching +obo:GARD_88 Leri pleonosteosis skos:narrowMatch OMIM:151200 semapv:UnspecifiedMatching +obo:GARD_882 Biemond syndrome type 2 skos:exactMatch Orphanet:141333 semapv:UnspecifiedMatching +obo:GARD_882 Biemond syndrome type 2 skos:narrowMatch OMIM:210350 semapv:UnspecifiedMatching +obo:GARD_884 Bifid nose skos:exactMatch Orphanet:2695 semapv:UnspecifiedMatching +obo:GARD_884 Bifid nose skos:narrowMatch OMIM:109740 semapv:UnspecifiedMatching +obo:GARD_884 Bifid nose skos:narrowMatch OMIM:210400 semapv:UnspecifiedMatching +obo:GARD_893 Fallot complex-intellectual disability-growth delay syndrome skos:exactMatch Orphanet:3304 semapv:UnspecifiedMatching +obo:GARD_893 Fallot complex-intellectual disability-growth delay syndrome skos:narrowMatch OMIM:601127 semapv:UnspecifiedMatching +obo:GARD_894 Biotinidase deficiency skos:exactMatch Orphanet:79241 semapv:UnspecifiedMatching +obo:GARD_894 Biotinidase deficiency skos:narrowMatch OMIM:253260 semapv:UnspecifiedMatching +obo:GARD_895 Microcephalic primordial dwarfism, Montreal type skos:exactMatch Orphanet:2617 semapv:UnspecifiedMatching +obo:GARD_895 Microcephalic primordial dwarfism, Montreal type skos:narrowMatch OMIM:210700 semapv:UnspecifiedMatching +obo:GARD_897 Hypertelorism-microtia-facial clefting syndrome skos:exactMatch Orphanet:2213 semapv:UnspecifiedMatching +obo:GARD_897 Hypertelorism-microtia-facial clefting syndrome skos:narrowMatch OMIM:239800 semapv:UnspecifiedMatching +obo:GARD_905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch Orphanet:2057 semapv:UnspecifiedMatching +obo:GARD_905 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:narrowMatch OMIM:210745 semapv:UnspecifiedMatching +obo:GARD_9118 Primary Fanconi renotubular syndrome skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching +obo:GARD_9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:134600 semapv:UnspecifiedMatching +obo:GARD_9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:613388 semapv:UnspecifiedMatching +obo:GARD_9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:615605 semapv:UnspecifiedMatching +obo:GARD_9118 Primary Fanconi renotubular syndrome skos:narrowMatch OMIM:618913 semapv:UnspecifiedMatching +obo:GARD_9119 Pulmonary agenesis skos:exactMatch Orphanet:984 semapv:UnspecifiedMatching +obo:GARD_912 Blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch Orphanet:1259 semapv:UnspecifiedMatching +obo:GARD_912 Blepharoptosis-myopia-ectopia lentis syndrome skos:narrowMatch OMIM:110150 semapv:UnspecifiedMatching +obo:GARD_9124 Treacher-Collins syndrome skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching +obo:GARD_9124 Treacher-Collins syndrome skos:narrowMatch OMIM:154500 semapv:UnspecifiedMatching +obo:GARD_9124 Treacher-Collins syndrome skos:narrowMatch OMIM:248390 semapv:UnspecifiedMatching +obo:GARD_9124 Treacher-Collins syndrome skos:narrowMatch OMIM:613717 semapv:UnspecifiedMatching +obo:GARD_9124 Treacher-Collins syndrome skos:narrowMatch OMIM:618939 semapv:UnspecifiedMatching +obo:GARD_9125 Treacher collins syndrome 3 skos:broadMatch Orphanet:861 semapv:UnspecifiedMatching +obo:GARD_9125 Treacher collins syndrome 3 skos:exactMatch OMIM:248390 semapv:UnspecifiedMatching +obo:GARD_9126 Agnathia-holoprosencephaly-situs inversus syndrome skos:exactMatch Orphanet:990 semapv:UnspecifiedMatching +obo:GARD_9126 Agnathia-holoprosencephaly-situs inversus syndrome skos:narrowMatch OMIM:202650 semapv:UnspecifiedMatching +obo:GARD_9128 Idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 semapv:UnspecifiedMatching +obo:GARD_9138 Congenital muscular dystrophy skos:exactMatch Orphanet:97242 semapv:UnspecifiedMatching +obo:GARD_914 Blomstrand lethal chondrodysplasia skos:exactMatch Orphanet:50945 semapv:UnspecifiedMatching +obo:GARD_914 Blomstrand lethal chondrodysplasia skos:narrowMatch OMIM:215045 semapv:UnspecifiedMatching +obo:GARD_9142 Eosinophilic gastroenteritis skos:exactMatch Orphanet:2070 semapv:UnspecifiedMatching +obo:GARD_9145 Renal pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171871 semapv:UnspecifiedMatching +obo:GARD_9145 Renal pseudohypoaldosteronism type 1 skos:narrowMatch OMIM:177735 semapv:UnspecifiedMatching +obo:GARD_9146 Cardiofaciocutaneous syndrome skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching +obo:GARD_9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:115150 semapv:UnspecifiedMatching +obo:GARD_9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:615278 semapv:UnspecifiedMatching +obo:GARD_9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:615279 semapv:UnspecifiedMatching +obo:GARD_9146 Cardiofaciocutaneous syndrome skos:narrowMatch OMIM:615280 semapv:UnspecifiedMatching +obo:GARD_9149 Retinitis pigmentosa 1 skos:broadMatch Orphanet:791 semapv:UnspecifiedMatching +obo:GARD_9149 Retinitis pigmentosa 1 skos:exactMatch OMIM:180100 semapv:UnspecifiedMatching +obo:GARD_915 Bloom syndrome skos:exactMatch Orphanet:125 semapv:UnspecifiedMatching +obo:GARD_915 Bloom syndrome skos:narrowMatch OMIM:210900 semapv:UnspecifiedMatching +obo:GARD_9151 3-methylcrotonyl-coa carboxylase 2 deficiency skos:broadMatch Orphanet:6 semapv:UnspecifiedMatching +obo:GARD_9151 3-methylcrotonyl-coa carboxylase 2 deficiency skos:exactMatch OMIM:210210 semapv:UnspecifiedMatching +obo:GARD_9152 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch Orphanet:90791 semapv:UnspecifiedMatching +obo:GARD_9152 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:narrowMatch OMIM:201810 semapv:UnspecifiedMatching +obo:GARD_9156 Syndromic X-linked intellectual disability 7 skos:exactMatch Orphanet:85274 semapv:UnspecifiedMatching +obo:GARD_9156 Syndromic X-linked intellectual disability 7 skos:narrowMatch OMIM:300218 semapv:UnspecifiedMatching +obo:GARD_9157 X-linked intellectual disability, Abidi type skos:exactMatch Orphanet:85273 semapv:UnspecifiedMatching +obo:GARD_9157 X-linked intellectual disability, Abidi type skos:narrowMatch OMIM:300262 semapv:UnspecifiedMatching +obo:GARD_9158 Brody myopathy skos:exactMatch Orphanet:53347 semapv:UnspecifiedMatching +obo:GARD_9158 Brody myopathy skos:narrowMatch OMIM:601003 semapv:UnspecifiedMatching +obo:GARD_9159 46,xy sex reversal 2 skos:broadMatch Orphanet:242 semapv:UnspecifiedMatching +obo:GARD_9159 46,xy sex reversal 2 skos:broadMatch Orphanet:251510 semapv:UnspecifiedMatching +obo:GARD_9159 46,xy sex reversal 2 skos:exactMatch OMIM:300018 semapv:UnspecifiedMatching +obo:GARD_916 Blount disease skos:exactMatch Orphanet:2768 semapv:UnspecifiedMatching +obo:GARD_916 Blount disease skos:narrowMatch OMIM:188700 semapv:UnspecifiedMatching +obo:GARD_916 Blount disease skos:narrowMatch OMIM:259200 semapv:UnspecifiedMatching +obo:GARD_9161 Alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch Orphanet:79280 semapv:UnspecifiedMatching +obo:GARD_9161 Alpha-N-acetylgalactosaminidase deficiency type 2 skos:narrowMatch OMIM:609242 semapv:UnspecifiedMatching +obo:GARD_9163 Roifman syndrome skos:exactMatch Orphanet:353298 semapv:UnspecifiedMatching +obo:GARD_9163 Roifman syndrome skos:narrowMatch OMIM:616651 semapv:UnspecifiedMatching +obo:GARD_9164 Rippling muscle disease skos:exactMatch Orphanet:97238 semapv:UnspecifiedMatching +obo:GARD_9164 Rippling muscle disease skos:narrowMatch OMIM:600332 semapv:UnspecifiedMatching +obo:GARD_9164 Rippling muscle disease skos:narrowMatch OMIM:606072 semapv:UnspecifiedMatching +obo:GARD_9165 Rippling muscle disease 1 skos:broadMatch Orphanet:97238 semapv:UnspecifiedMatching +obo:GARD_9165 Rippling muscle disease 1 skos:exactMatch OMIM:600332 semapv:UnspecifiedMatching +obo:GARD_9166 Deafness, autosomal dominant 24 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_9166 Deafness, autosomal dominant 24 skos:exactMatch OMIM:606282 semapv:UnspecifiedMatching +obo:GARD_9167 Deafness, autosomal dominant 22 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_9167 Deafness, autosomal dominant 22 skos:exactMatch OMIM:606346 semapv:UnspecifiedMatching +obo:GARD_9168 Familial expansile osteolysis skos:exactMatch Orphanet:85195 semapv:UnspecifiedMatching +obo:GARD_9168 Familial expansile osteolysis skos:narrowMatch OMIM:174810 semapv:UnspecifiedMatching +obo:GARD_9169 ADan amyloidosis skos:exactMatch Orphanet:97346 semapv:UnspecifiedMatching +obo:GARD_9169 ADan amyloidosis skos:narrowMatch OMIM:117300 semapv:UnspecifiedMatching +obo:GARD_917 Blue cone monochromatism skos:exactMatch Orphanet:16 semapv:UnspecifiedMatching +obo:GARD_917 Blue cone monochromatism skos:narrowMatch OMIM:303700 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:278150 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:604379 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:605389 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:607903 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:614237 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:614238 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:615059 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:615885 semapv:UnspecifiedMatching +obo:GARD_9170 Hypotrichosis simplex skos:narrowMatch OMIM:618275 semapv:UnspecifiedMatching +obo:GARD_9172 Palmoplantar keratoderma i, striate, focal, or diffuse skos:broadMatch Orphanet:50942 semapv:UnspecifiedMatching +obo:GARD_9172 Palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch OMIM:148700 semapv:UnspecifiedMatching +obo:GARD_9173 Keratosis palmoplantaris striata iii skos:broadMatch Orphanet:50942 semapv:UnspecifiedMatching +obo:GARD_9173 Keratosis palmoplantaris striata iii skos:exactMatch OMIM:607654 semapv:UnspecifiedMatching +obo:GARD_9174 Kufor-Rakeb syndrome skos:exactMatch Orphanet:306674 semapv:UnspecifiedMatching +obo:GARD_9174 Kufor-Rakeb syndrome skos:narrowMatch OMIM:606693 semapv:UnspecifiedMatching +obo:GARD_9175 Parkinsonian-pyramidal syndrome skos:exactMatch Orphanet:171695 semapv:UnspecifiedMatching +obo:GARD_9175 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:168100 semapv:UnspecifiedMatching +obo:GARD_9175 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:168601 semapv:UnspecifiedMatching +obo:GARD_9175 Parkinsonian-pyramidal syndrome skos:narrowMatch OMIM:260300 semapv:UnspecifiedMatching +obo:GARD_9176 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 semapv:UnspecifiedMatching +obo:GARD_9176 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:narrowMatch OMIM:604416 semapv:UnspecifiedMatching +obo:GARD_9177 Lethal congenital contracture syndrome type 2 skos:exactMatch Orphanet:137776 semapv:UnspecifiedMatching +obo:GARD_9177 Lethal congenital contracture syndrome type 2 skos:narrowMatch OMIM:607598 semapv:UnspecifiedMatching +obo:GARD_9178 MEHMO syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching +obo:GARD_9178 MEHMO syndrome skos:narrowMatch OMIM:300148 semapv:UnspecifiedMatching +obo:GARD_9179 North Carolina macular dystrophy skos:exactMatch Orphanet:75327 semapv:UnspecifiedMatching +obo:GARD_9179 North Carolina macular dystrophy skos:narrowMatch OMIM:136550 semapv:UnspecifiedMatching +obo:GARD_918 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch Orphanet:1292 semapv:UnspecifiedMatching +obo:GARD_918 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:narrowMatch OMIM:113477 semapv:UnspecifiedMatching +obo:GARD_9180 Primary membranous glomerulonephritis skos:exactMatch Orphanet:97560 semapv:UnspecifiedMatching +obo:GARD_9180 Primary membranous glomerulonephritis skos:narrowMatch OMIM:614692 semapv:UnspecifiedMatching +obo:GARD_9181 Familial abdominal aortic aneurysm skos:exactMatch Orphanet:86 semapv:UnspecifiedMatching +obo:GARD_9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:100070 semapv:UnspecifiedMatching +obo:GARD_9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:609782 semapv:UnspecifiedMatching +obo:GARD_9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:611891 semapv:UnspecifiedMatching +obo:GARD_9181 Familial abdominal aortic aneurysm skos:narrowMatch OMIM:614375 semapv:UnspecifiedMatching +obo:GARD_9182 Okihiro syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching +obo:GARD_9182 Okihiro syndrome skos:narrowMatch OMIM:607323 semapv:UnspecifiedMatching +obo:GARD_9184 Progressive pseudorheumatoid arthropathy of childhood skos:exactMatch Orphanet:1159 semapv:UnspecifiedMatching +obo:GARD_9184 Progressive pseudorheumatoid arthropathy of childhood skos:narrowMatch OMIM:208230 semapv:UnspecifiedMatching +obo:GARD_9185 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching +obo:GARD_9185 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:narrowMatch OMIM:209950 semapv:UnspecifiedMatching +obo:GARD_9189 Charcot-Marie-Tooth disease type 1D skos:exactMatch Orphanet:101084 semapv:UnspecifiedMatching +obo:GARD_9189 Charcot-Marie-Tooth disease type 1D skos:narrowMatch OMIM:607678 semapv:UnspecifiedMatching +obo:GARD_9190 Charcot-Marie-Tooth disease type 1E skos:exactMatch Orphanet:90658 semapv:UnspecifiedMatching +obo:GARD_9190 Charcot-Marie-Tooth disease type 1E skos:narrowMatch OMIM:118300 semapv:UnspecifiedMatching +obo:GARD_9191 Charcot-Marie-Tooth disease type 1F skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching +obo:GARD_9191 Charcot-Marie-Tooth disease type 1F skos:narrowMatch OMIM:607734 semapv:UnspecifiedMatching +obo:GARD_9192 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:exactMatch Orphanet:99936 semapv:UnspecifiedMatching +obo:GARD_9192 Autosomal dominant Charcot-Marie-Tooth disease type 2B skos:narrowMatch OMIM:600882 semapv:UnspecifiedMatching +obo:GARD_9193 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:exactMatch Orphanet:99939 semapv:UnspecifiedMatching +obo:GARD_9193 Autosomal dominant Charcot-Marie-Tooth disease type 2E skos:narrowMatch OMIM:607684 semapv:UnspecifiedMatching +obo:GARD_9194 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:exactMatch Orphanet:99940 semapv:UnspecifiedMatching +obo:GARD_9194 Autosomal dominant Charcot-Marie-Tooth disease type 2F skos:narrowMatch OMIM:606595 semapv:UnspecifiedMatching +obo:GARD_9195 Autosomal dominant Charcot-Marie-Tooth disease type 2G skos:exactMatch Orphanet:99941 semapv:UnspecifiedMatching +obo:GARD_9196 Charcot-Marie-Tooth disease type 2H skos:exactMatch Orphanet:101102 semapv:UnspecifiedMatching +obo:GARD_9196 Charcot-Marie-Tooth disease type 2H skos:narrowMatch OMIM:607731 semapv:UnspecifiedMatching +obo:GARD_9197 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:exactMatch Orphanet:99942 semapv:UnspecifiedMatching +obo:GARD_9197 Autosomal dominant Charcot-Marie-Tooth disease type 2I skos:narrowMatch OMIM:607677 semapv:UnspecifiedMatching +obo:GARD_9198 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:exactMatch Orphanet:99943 semapv:UnspecifiedMatching +obo:GARD_9198 Autosomal dominant Charcot-Marie-Tooth disease type 2J skos:narrowMatch OMIM:607736 semapv:UnspecifiedMatching +obo:GARD_9199 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch Orphanet:99944 semapv:UnspecifiedMatching +obo:GARD_9199 Autosomal dominant Charcot-Marie-Tooth disease type 2K skos:narrowMatch OMIM:607831 semapv:UnspecifiedMatching +obo:GARD_92 Mal de Meleda skos:exactMatch Orphanet:87503 semapv:UnspecifiedMatching +obo:GARD_92 Mal de Meleda skos:narrowMatch OMIM:248300 semapv:UnspecifiedMatching +obo:GARD_9200 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching +obo:GARD_9200 Charcot-Marie-Tooth disease type 4B2 skos:narrowMatch OMIM:604563 semapv:UnspecifiedMatching +obo:GARD_9201 Charcot-Marie-Tooth disease type 4C skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching +obo:GARD_9201 Charcot-Marie-Tooth disease type 4C skos:narrowMatch OMIM:601596 semapv:UnspecifiedMatching +obo:GARD_9203 Charcot-Marie-Tooth disease type 4E skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching +obo:GARD_9203 Charcot-Marie-Tooth disease type 4E skos:narrowMatch OMIM:605253 semapv:UnspecifiedMatching +obo:GARD_9204 Dejerine-Sottas syndrome skos:exactMatch Orphanet:64748 semapv:UnspecifiedMatching +obo:GARD_9204 Dejerine-Sottas syndrome skos:narrowMatch OMIM:145900 semapv:UnspecifiedMatching +obo:GARD_9204 Dejerine-Sottas syndrome skos:narrowMatch OMIM:618184 semapv:UnspecifiedMatching +obo:GARD_9206 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F skos:exactMatch Orphanet:352670 semapv:UnspecifiedMatching +obo:GARD_9206 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F skos:narrowMatch OMIM:615185 semapv:UnspecifiedMatching +obo:GARD_9207 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:exactMatch Orphanet:100046 semapv:UnspecifiedMatching +obo:GARD_9207 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D skos:narrowMatch OMIM:607791 semapv:UnspecifiedMatching +obo:GARD_9208 Hereditary motor and sensory neuropathy type 5 skos:exactMatch Orphanet:64751 semapv:UnspecifiedMatching +obo:GARD_9208 Hereditary motor and sensory neuropathy type 5 skos:narrowMatch OMIM:600361 semapv:UnspecifiedMatching +obo:GARD_9210 Thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 semapv:UnspecifiedMatching +obo:GARD_9210 Thiamine-responsive megaloblastic anemia syndrome skos:narrowMatch OMIM:249270 semapv:UnspecifiedMatching +obo:GARD_9212 Phocomelia, Schinzel type skos:exactMatch Orphanet:2879 semapv:UnspecifiedMatching +obo:GARD_9212 Phocomelia, Schinzel type skos:narrowMatch OMIM:276820 semapv:UnspecifiedMatching +obo:GARD_9217 Lymphedema-cerebral arteriovenous anomaly syndrome skos:exactMatch Orphanet:86914 semapv:UnspecifiedMatching +obo:GARD_9217 Lymphedema-cerebral arteriovenous anomaly syndrome skos:narrowMatch OMIM:152900 semapv:UnspecifiedMatching +obo:GARD_922 Bone dysplasia, lethal Holmgren type skos:exactMatch Orphanet:1842 semapv:UnspecifiedMatching +obo:GARD_922 Bone dysplasia, lethal Holmgren type skos:narrowMatch OMIM:211120 semapv:UnspecifiedMatching +obo:GARD_9225 Tarsal-carpal coalition syndrome skos:exactMatch Orphanet:1412 semapv:UnspecifiedMatching +obo:GARD_9225 Tarsal-carpal coalition syndrome skos:narrowMatch OMIM:186400 semapv:UnspecifiedMatching +obo:GARD_9225 Tarsal-carpal coalition syndrome skos:narrowMatch OMIM:186570 semapv:UnspecifiedMatching +obo:GARD_9228 Renal agenesis skos:exactMatch Orphanet:411709 semapv:UnspecifiedMatching +obo:GARD_9228 Renal agenesis skos:narrowMatch OMIM:191830 semapv:UnspecifiedMatching +obo:GARD_9228 Renal agenesis skos:narrowMatch OMIM:615721 semapv:UnspecifiedMatching +obo:GARD_9232 Arnold-Chiari malformation type II skos:exactMatch Orphanet:1136 semapv:UnspecifiedMatching +obo:GARD_9232 Arnold-Chiari malformation type II skos:narrowMatch OMIM:207950 semapv:UnspecifiedMatching +obo:GARD_9233 Arnold-Chiari malformation type I skos:exactMatch Orphanet:268882 semapv:UnspecifiedMatching +obo:GARD_9233 Arnold-Chiari malformation type I skos:narrowMatch OMIM:118420 semapv:UnspecifiedMatching +obo:GARD_9237 Severe acute respiratory syndrome skos:exactMatch Orphanet:140896 semapv:UnspecifiedMatching +obo:GARD_9239 Parkinson-dementia complex of Guam skos:exactMatch Orphanet:90020 semapv:UnspecifiedMatching +obo:GARD_9239 Parkinson-dementia complex of Guam skos:narrowMatch OMIM:105500 semapv:UnspecifiedMatching +obo:GARD_9242 Familial advanced sleep-phase syndrome skos:exactMatch Orphanet:164736 semapv:UnspecifiedMatching +obo:GARD_9242 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:604348 semapv:UnspecifiedMatching +obo:GARD_9242 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:615224 semapv:UnspecifiedMatching +obo:GARD_9242 Familial advanced sleep-phase syndrome skos:narrowMatch OMIM:616882 semapv:UnspecifiedMatching +obo:GARD_9247 Primary effusion lymphoma skos:exactMatch Orphanet:48686 semapv:UnspecifiedMatching +obo:GARD_9252 Tubulointerstitial nephritis and uveitis syndrome skos:exactMatch Orphanet:91500 semapv:UnspecifiedMatching +obo:GARD_9252 Tubulointerstitial nephritis and uveitis syndrome skos:narrowMatch OMIM:607665 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:300672 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:308350 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:609304 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:612164 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:613402 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:613721 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:615473 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:616341 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617276 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617350 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617389 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617391 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617493 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:617599 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:618548 semapv:UnspecifiedMatching +obo:GARD_9255 Early infantile epileptic encephalopathy skos:narrowMatch OMIM:619340 semapv:UnspecifiedMatching +obo:GARD_9257 SUNCT syndrome skos:exactMatch Orphanet:57145 semapv:UnspecifiedMatching +obo:GARD_9258 Perineural cyst skos:exactMatch Orphanet:65250 semapv:UnspecifiedMatching +obo:GARD_9265 Classic glucose transporter type 1 deficiency syndrome skos:exactMatch Orphanet:71277 semapv:UnspecifiedMatching +obo:GARD_9265 Classic glucose transporter type 1 deficiency syndrome skos:narrowMatch OMIM:606777 semapv:UnspecifiedMatching +obo:GARD_9266 Cutaneous neuroendocrine carcinoma skos:exactMatch Orphanet:79140 semapv:UnspecifiedMatching +obo:GARD_9268 Glomerulopathy with fibronectin deposits 1 skos:broadMatch Orphanet:84090 semapv:UnspecifiedMatching +obo:GARD_9268 Glomerulopathy with fibronectin deposits 1 skos:exactMatch OMIM:137950 semapv:UnspecifiedMatching +obo:GARD_9275 Thiel-Behnke corneal dystrophy skos:exactMatch Orphanet:98960 semapv:UnspecifiedMatching +obo:GARD_9275 Thiel-Behnke corneal dystrophy skos:narrowMatch OMIM:602082 semapv:UnspecifiedMatching +obo:GARD_9276 Reis-Bücklers corneal dystrophy skos:exactMatch Orphanet:98961 semapv:UnspecifiedMatching +obo:GARD_9276 Reis-Bücklers corneal dystrophy skos:narrowMatch OMIM:608470 semapv:UnspecifiedMatching +obo:GARD_9277 Schnyder corneal dystrophy skos:exactMatch Orphanet:98967 semapv:UnspecifiedMatching +obo:GARD_9277 Schnyder corneal dystrophy skos:narrowMatch OMIM:121800 semapv:UnspecifiedMatching +obo:GARD_9278 Granular corneal dystrophy type II skos:exactMatch Orphanet:98963 semapv:UnspecifiedMatching +obo:GARD_9278 Granular corneal dystrophy type II skos:narrowMatch OMIM:607541 semapv:UnspecifiedMatching +obo:GARD_9279 Formiminoglutamic aciduria skos:exactMatch Orphanet:51208 semapv:UnspecifiedMatching +obo:GARD_9279 Formiminoglutamic aciduria skos:narrowMatch OMIM:229100 semapv:UnspecifiedMatching +obo:GARD_9280 Cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch Orphanet:1415 semapv:UnspecifiedMatching +obo:GARD_9281 Familial atypical multiple mole melanoma syndrome skos:exactMatch Orphanet:404560 semapv:UnspecifiedMatching +obo:GARD_9281 Familial atypical multiple mole melanoma syndrome skos:narrowMatch OMIM:155600 semapv:UnspecifiedMatching +obo:GARD_9281 Familial atypical multiple mole melanoma syndrome skos:narrowMatch OMIM:606719 semapv:UnspecifiedMatching +obo:GARD_9282 White platelet syndrome skos:exactMatch Orphanet:370131 semapv:UnspecifiedMatching +obo:GARD_9283 Ataxia-oculomotor apraxia type 1 skos:exactMatch Orphanet:1168 semapv:UnspecifiedMatching +obo:GARD_9283 Ataxia-oculomotor apraxia type 1 skos:narrowMatch OMIM:208920 semapv:UnspecifiedMatching +obo:GARD_9285 Amoebic keratitis skos:exactMatch Orphanet:67043 semapv:UnspecifiedMatching +obo:GARD_9287 Atelosteogenesis type I skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching +obo:GARD_9287 Atelosteogenesis type I skos:narrowMatch OMIM:108720 semapv:UnspecifiedMatching +obo:GARD_9288 X-linked intellectual disability, Schimke type skos:exactMatch Orphanet:85285 semapv:UnspecifiedMatching +obo:GARD_9288 X-linked intellectual disability, Schimke type skos:narrowMatch OMIM:312840 semapv:UnspecifiedMatching +obo:GARD_9292 Microphthalmia-brain atrophy syndrome skos:exactMatch Orphanet:77299 semapv:UnspecifiedMatching +obo:GARD_9292 Microphthalmia-brain atrophy syndrome skos:narrowMatch OMIM:611222 semapv:UnspecifiedMatching +obo:GARD_9294 Timothy syndrome skos:exactMatch Orphanet:65283 semapv:UnspecifiedMatching +obo:GARD_9294 Timothy syndrome skos:narrowMatch OMIM:601005 semapv:UnspecifiedMatching +obo:GARD_9294 Timothy syndrome skos:narrowMatch OMIM:618447 semapv:UnspecifiedMatching +obo:GARD_9295 Thanatophoric dysplasia type 1 skos:exactMatch Orphanet:1860 semapv:UnspecifiedMatching +obo:GARD_9295 Thanatophoric dysplasia type 1 skos:narrowMatch OMIM:187600 semapv:UnspecifiedMatching +obo:GARD_9296 Autosomal recessive spastic paraplegia type 24 skos:exactMatch Orphanet:101004 semapv:UnspecifiedMatching +obo:GARD_9296 Autosomal recessive spastic paraplegia type 24 skos:narrowMatch OMIM:607584 semapv:UnspecifiedMatching +obo:GARD_9297 WHIM syndrome skos:exactMatch Orphanet:51636 semapv:UnspecifiedMatching +obo:GARD_9297 WHIM syndrome skos:narrowMatch OMIM:193670 semapv:UnspecifiedMatching +obo:GARD_9298 Pyridoxine-dependent epilepsy skos:exactMatch Orphanet:3006 semapv:UnspecifiedMatching +obo:GARD_9298 Pyridoxine-dependent epilepsy skos:narrowMatch OMIM:266100 semapv:UnspecifiedMatching +obo:GARD_9298 Pyridoxine-dependent epilepsy skos:narrowMatch OMIM:617290 semapv:UnspecifiedMatching +obo:GARD_9299 Acute ackee fruit intoxication skos:exactMatch Orphanet:73423 semapv:UnspecifiedMatching +obo:GARD_93 Monilethrix skos:exactMatch Orphanet:573 semapv:UnspecifiedMatching +obo:GARD_93 Monilethrix skos:narrowMatch OMIM:158000 semapv:UnspecifiedMatching +obo:GARD_9304 Cholangiocarcinoma skos:exactMatch Orphanet:70567 semapv:UnspecifiedMatching +obo:GARD_9304 Cholangiocarcinoma skos:narrowMatch OMIM:615619 semapv:UnspecifiedMatching +obo:GARD_9316 Neuroendocrine neoplasm skos:exactMatch Orphanet:877 semapv:UnspecifiedMatching +obo:GARD_9318 Primary central nervous system lymphoma skos:exactMatch Orphanet:46135 semapv:UnspecifiedMatching +obo:GARD_9319 Myeloproliferative neoplasm skos:exactMatch Orphanet:98274 semapv:UnspecifiedMatching +obo:GARD_932 Böök syndrome skos:exactMatch Orphanet:1262 semapv:UnspecifiedMatching +obo:GARD_932 Böök syndrome skos:narrowMatch OMIM:112300 semapv:UnspecifiedMatching +obo:GARD_9325 Extragonadal germ cell tumor skos:exactMatch Orphanet:363579 semapv:UnspecifiedMatching +obo:GARD_933 Boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching +obo:GARD_933 Boomerang dysplasia skos:narrowMatch OMIM:112310 semapv:UnspecifiedMatching +obo:GARD_9330 Malignant germ cell tumor of ovary skos:exactMatch Orphanet:35807 semapv:UnspecifiedMatching +obo:GARD_9330 Malignant germ cell tumor of ovary skos:narrowMatch OMIM:603737 semapv:UnspecifiedMatching +obo:GARD_9331 Pediatric hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching +obo:GARD_9331 Pediatric hepatocellular carcinoma skos:narrowMatch OMIM:114550 semapv:UnspecifiedMatching +obo:GARD_9344 Small cell lung cancer skos:exactMatch Orphanet:70573 semapv:UnspecifiedMatching +obo:GARD_9344 Small cell lung cancer skos:narrowMatch OMIM:182280 semapv:UnspecifiedMatching +obo:GARD_9348 Vaginal carcinoma skos:exactMatch Orphanet:180247 semapv:UnspecifiedMatching +obo:GARD_9349 Vulvar carcinoma skos:exactMatch Orphanet:494418 semapv:UnspecifiedMatching +obo:GARD_9351 Myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98275 semapv:UnspecifiedMatching +obo:GARD_936 Borjeson-Forssman-Lehmann syndrome skos:exactMatch Orphanet:127 semapv:UnspecifiedMatching +obo:GARD_936 Borjeson-Forssman-Lehmann syndrome skos:narrowMatch OMIM:301900 semapv:UnspecifiedMatching +obo:GARD_9362 Malignant epithelial tumor of ovary skos:exactMatch Orphanet:398934 semapv:UnspecifiedMatching +obo:GARD_9363 Borderline epithelial tumor of ovary skos:exactMatch Orphanet:206473 semapv:UnspecifiedMatching +obo:GARD_9364 Rare tumor of pancreas skos:exactMatch Orphanet:180824 semapv:UnspecifiedMatching +obo:GARD_9366 Malignant tumor of penis skos:exactMatch Orphanet:398043 semapv:UnspecifiedMatching +obo:GARD_9369 Pineoblastoma skos:exactMatch Orphanet:251909 semapv:UnspecifiedMatching +obo:GARD_9371 Pituitary carcinoma skos:exactMatch Orphanet:300385 semapv:UnspecifiedMatching +obo:GARD_9373 Plasma cell leukemia skos:exactMatch Orphanet:454714 semapv:UnspecifiedMatching +obo:GARD_9376 Upper tract urothelial carcinoma skos:exactMatch Orphanet:598216 semapv:UnspecifiedMatching +obo:GARD_938 Tricho-retino-dento-digital syndrome skos:exactMatch Orphanet:1264 semapv:UnspecifiedMatching +obo:GARD_938 Tricho-retino-dento-digital syndrome skos:narrowMatch OMIM:191482 semapv:UnspecifiedMatching +obo:GARD_94 Mucolipidosis type IV skos:exactMatch Orphanet:578 semapv:UnspecifiedMatching +obo:GARD_94 Mucolipidosis type IV skos:narrowMatch OMIM:252650 semapv:UnspecifiedMatching +obo:GARD_9400 Tako-Tsubo cardiomyopathy skos:exactMatch Orphanet:66529 semapv:UnspecifiedMatching +obo:GARD_9404 Phyllodes tumor of the prostate skos:exactMatch Orphanet:498228 semapv:UnspecifiedMatching +obo:GARD_9412 X-linked cerebral adrenoleukodystrophy skos:exactMatch Orphanet:139396 semapv:UnspecifiedMatching +obo:GARD_9412 X-linked cerebral adrenoleukodystrophy skos:narrowMatch OMIM:300100 semapv:UnspecifiedMatching +obo:GARD_9418 Cochleosaccular degeneration-cataract syndrome skos:exactMatch Orphanet:3233 semapv:UnspecifiedMatching +obo:GARD_9418 Cochleosaccular degeneration-cataract syndrome skos:narrowMatch OMIM:120040 semapv:UnspecifiedMatching +obo:GARD_942 Diphyllobothriasis skos:exactMatch Orphanet:128 semapv:UnspecifiedMatching +obo:GARD_9420 Pierson syndrome skos:exactMatch Orphanet:2670 semapv:UnspecifiedMatching +obo:GARD_9420 Pierson syndrome skos:narrowMatch OMIM:609049 semapv:UnspecifiedMatching +obo:GARD_9428 Thyroid carcinoma, hurthle cell skos:broadMatch Orphanet:146 semapv:UnspecifiedMatching +obo:GARD_9428 Thyroid carcinoma, hurthle cell skos:exactMatch OMIM:607464 semapv:UnspecifiedMatching +obo:GARD_9429 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch Orphanet:309796 semapv:UnspecifiedMatching +obo:GARD_9429 Rhizomelic chondrodysplasia punctata type 2 skos:narrowMatch OMIM:222765 semapv:UnspecifiedMatching +obo:GARD_943 Botulism skos:exactMatch Orphanet:1267 semapv:UnspecifiedMatching +obo:GARD_9430 Congenital thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93583 semapv:UnspecifiedMatching +obo:GARD_9430 Congenital thrombotic thrombocytopenic purpura skos:narrowMatch OMIM:274150 semapv:UnspecifiedMatching +obo:GARD_9433 Organic aciduria skos:exactMatch Orphanet:289899 semapv:UnspecifiedMatching +obo:GARD_9435 Hermansky-pudlak syndrome 2 skos:broadMatch Orphanet:183678 semapv:UnspecifiedMatching +obo:GARD_9435 Hermansky-pudlak syndrome 2 skos:exactMatch OMIM:608233 semapv:UnspecifiedMatching +obo:GARD_944 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch Orphanet:1180 semapv:UnspecifiedMatching +obo:GARD_944 Ataxia-hypogonadism-choroidal dystrophy syndrome skos:narrowMatch OMIM:215470 semapv:UnspecifiedMatching +obo:GARD_9441 Temple-Baraitser syndrome skos:exactMatch Orphanet:420561 semapv:UnspecifiedMatching +obo:GARD_9441 Temple-Baraitser syndrome skos:narrowMatch OMIM:611816 semapv:UnspecifiedMatching +obo:GARD_9442 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:exactMatch Orphanet:366 semapv:UnspecifiedMatching +obo:GARD_9442 Glycogen storage disease due to glycogen debranching enzyme deficiency skos:narrowMatch OMIM:232400 semapv:UnspecifiedMatching +obo:GARD_9443 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch Orphanet:85165 semapv:UnspecifiedMatching +obo:GARD_9443 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:narrowMatch OMIM:616482 semapv:UnspecifiedMatching +obo:GARD_9444 Marburg hemorrhagic fever skos:exactMatch Orphanet:99826 semapv:UnspecifiedMatching +obo:GARD_9447 Infantile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79263 semapv:UnspecifiedMatching +obo:GARD_9447 Infantile neuronal ceroid lipofuscinosis skos:narrowMatch OMIM:256730 semapv:UnspecifiedMatching +obo:GARD_9448 Camptodactyly of fingers skos:exactMatch Orphanet:295016 semapv:UnspecifiedMatching +obo:GARD_9448 Camptodactyly of fingers skos:narrowMatch OMIM:114200 semapv:UnspecifiedMatching +obo:GARD_9449 Waterhouse-Friderichsen syndrome skos:exactMatch Orphanet:100067 semapv:UnspecifiedMatching +obo:GARD_9450 Familial juvenile hypertrophy of the breast skos:exactMatch Orphanet:180176 semapv:UnspecifiedMatching +obo:GARD_9450 Familial juvenile hypertrophy of the breast skos:narrowMatch OMIM:113670 semapv:UnspecifiedMatching +obo:GARD_9452 Pilomatrixoma skos:exactMatch Orphanet:91414 semapv:UnspecifiedMatching +obo:GARD_9452 Pilomatrixoma skos:narrowMatch OMIM:132600 semapv:UnspecifiedMatching +obo:GARD_9453 Andersen-Tawil syndrome skos:exactMatch Orphanet:37553 semapv:UnspecifiedMatching +obo:GARD_9453 Andersen-Tawil syndrome skos:narrowMatch OMIM:170390 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:243910 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:608091 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:610188 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:612285 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:614424 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:614465 semapv:UnspecifiedMatching +obo:GARD_9455 Joubert syndrome with oculorenal defect skos:narrowMatch OMIM:614844 semapv:UnspecifiedMatching +obo:GARD_9456 X-linked sideroblastic anemia skos:exactMatch Orphanet:75563 semapv:UnspecifiedMatching +obo:GARD_9456 X-linked sideroblastic anemia skos:narrowMatch OMIM:300751 semapv:UnspecifiedMatching +obo:GARD_9457 Isolated polycystic liver disease skos:exactMatch Orphanet:2924 semapv:UnspecifiedMatching +obo:GARD_9457 Isolated polycystic liver disease skos:narrowMatch OMIM:174050 semapv:UnspecifiedMatching +obo:GARD_9457 Isolated polycystic liver disease skos:narrowMatch OMIM:617004 semapv:UnspecifiedMatching +obo:GARD_9458 Loeys-dietz syndrome 1 skos:broadMatch Orphanet:60030 semapv:UnspecifiedMatching +obo:GARD_9458 Loeys-dietz syndrome 1 skos:exactMatch OMIM:609192 semapv:UnspecifiedMatching +obo:GARD_9463 Pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 semapv:UnspecifiedMatching +obo:GARD_9463 Pseudodiastrophic dysplasia skos:narrowMatch OMIM:264180 semapv:UnspecifiedMatching +obo:GARD_9465 Alzheimer disease, familial, 1 skos:broadMatch Orphanet:1020 semapv:UnspecifiedMatching +obo:GARD_9465 Alzheimer disease, familial, 1 skos:exactMatch OMIM:104300 semapv:UnspecifiedMatching +obo:GARD_9472 Anaplastic oligodendroglioma skos:exactMatch Orphanet:251630 semapv:UnspecifiedMatching +obo:GARD_9472 Anaplastic oligodendroglioma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +obo:GARD_9472 Anaplastic oligodendroglioma skos:narrowMatch OMIM:616568 semapv:UnspecifiedMatching +obo:GARD_9474 Melorheostosis skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching +obo:GARD_9474 Melorheostosis skos:narrowMatch OMIM:155950 semapv:UnspecifiedMatching +obo:GARD_9479 Vitamin B12-responsive methylmalonic acidemia type cblB skos:exactMatch Orphanet:79311 semapv:UnspecifiedMatching +obo:GARD_9479 Vitamin B12-responsive methylmalonic acidemia type cblB skos:narrowMatch OMIM:251110 semapv:UnspecifiedMatching +obo:GARD_9481 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch Orphanet:88924 semapv:UnspecifiedMatching +obo:GARD_9481 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:narrowMatch OMIM:600273 semapv:UnspecifiedMatching +obo:GARD_9484 Superficial siderosis skos:exactMatch Orphanet:247245 semapv:UnspecifiedMatching +obo:GARD_9485 Glaucoma 1, open angle, a skos:broadMatch Orphanet:98977 semapv:UnspecifiedMatching +obo:GARD_9485 Glaucoma 1, open angle, a skos:exactMatch OMIM:137750 semapv:UnspecifiedMatching +obo:GARD_9486 Isolated congenital anosmia skos:exactMatch Orphanet:88620 semapv:UnspecifiedMatching +obo:GARD_9486 Isolated congenital anosmia skos:narrowMatch OMIM:107200 semapv:UnspecifiedMatching +obo:GARD_9487 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch Orphanet:2674 semapv:UnspecifiedMatching +obo:GARD_9487 Cyprus facial-neuromusculoskeletal syndrome skos:narrowMatch OMIM:123853 semapv:UnspecifiedMatching +obo:GARD_9489 Isolated congenital breast hypoplasia/aplasia skos:exactMatch Orphanet:180188 semapv:UnspecifiedMatching +obo:GARD_9489 Isolated congenital breast hypoplasia/aplasia skos:narrowMatch OMIM:113700 semapv:UnspecifiedMatching +obo:GARD_9489 Isolated congenital breast hypoplasia/aplasia skos:narrowMatch OMIM:616001 semapv:UnspecifiedMatching +obo:GARD_9491 Leber congenital amaurosis 9 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_9491 Leber congenital amaurosis 9 skos:exactMatch OMIM:608553 semapv:UnspecifiedMatching +obo:GARD_9492 Cataract 35 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +obo:GARD_9492 Cataract 35 skos:exactMatch OMIM:609376 semapv:UnspecifiedMatching +obo:GARD_9493 GNE myopathy skos:exactMatch Orphanet:602 semapv:UnspecifiedMatching +obo:GARD_9493 GNE myopathy skos:narrowMatch OMIM:605820 semapv:UnspecifiedMatching +obo:GARD_9493 GNE myopathy skos:narrowMatch OMIM:617158 semapv:UnspecifiedMatching +obo:GARD_9494 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching +obo:GARD_9494 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:narrowMatch OMIM:605637 semapv:UnspecifiedMatching +obo:GARD_9495 Amelogenesis imperfecta, hypomaturation type, iia1 skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_9495 Amelogenesis imperfecta, hypomaturation type, iia1 skos:exactMatch OMIM:204700 semapv:UnspecifiedMatching +obo:GARD_9496 Hereditary renal hypouricemia skos:exactMatch Orphanet:94088 semapv:UnspecifiedMatching +obo:GARD_9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:220150 semapv:UnspecifiedMatching +obo:GARD_9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:242050 semapv:UnspecifiedMatching +obo:GARD_9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:307830 semapv:UnspecifiedMatching +obo:GARD_9496 Hereditary renal hypouricemia skos:narrowMatch OMIM:612076 semapv:UnspecifiedMatching +obo:GARD_9499 Aceruloplasminemia skos:exactMatch Orphanet:48818 semapv:UnspecifiedMatching +obo:GARD_9499 Aceruloplasminemia skos:narrowMatch OMIM:604290 semapv:UnspecifiedMatching +obo:GARD_95 Mulibrey nanism skos:exactMatch Orphanet:2576 semapv:UnspecifiedMatching +obo:GARD_95 Mulibrey nanism skos:narrowMatch OMIM:253250 semapv:UnspecifiedMatching +obo:GARD_9501 Hereditary geniospasm skos:exactMatch Orphanet:53372 semapv:UnspecifiedMatching +obo:GARD_9501 Hereditary geniospasm skos:narrowMatch OMIM:190100 semapv:UnspecifiedMatching +obo:GARD_9504 Porokeratosis 4, disseminated superficial actinic type skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_9504 Porokeratosis 4, disseminated superficial actinic type skos:exactMatch OMIM:607728 semapv:UnspecifiedMatching +obo:GARD_9505 Porokeratosis 3, multiple types skos:broadMatch Orphanet:735 semapv:UnspecifiedMatching +obo:GARD_9505 Porokeratosis 3, multiple types skos:broadMatch Orphanet:79152 semapv:UnspecifiedMatching +obo:GARD_9505 Porokeratosis 3, multiple types skos:exactMatch OMIM:175900 semapv:UnspecifiedMatching +obo:GARD_9506 Craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch Orphanet:85199 semapv:UnspecifiedMatching +obo:GARD_9506 Craniosynostosis-anal anomalies-porokeratosis syndrome skos:narrowMatch OMIM:603116 semapv:UnspecifiedMatching +obo:GARD_9508 Cerulean cataract skos:exactMatch Orphanet:98989 semapv:UnspecifiedMatching +obo:GARD_9508 Cerulean cataract skos:narrowMatch OMIM:115660 semapv:UnspecifiedMatching +obo:GARD_9508 Cerulean cataract skos:narrowMatch OMIM:614422 semapv:UnspecifiedMatching +obo:GARD_9509 Renpenning syndrome skos:exactMatch Orphanet:3242 semapv:UnspecifiedMatching +obo:GARD_9509 Renpenning syndrome skos:narrowMatch OMIM:309500 semapv:UnspecifiedMatching +obo:GARD_9511 Histiocytoid cardiomyopathy skos:exactMatch Orphanet:137675 semapv:UnspecifiedMatching +obo:GARD_9511 Histiocytoid cardiomyopathy skos:narrowMatch OMIM:212080 semapv:UnspecifiedMatching +obo:GARD_9511 Histiocytoid cardiomyopathy skos:narrowMatch OMIM:500000 semapv:UnspecifiedMatching +obo:GARD_9514 Phyllodes tumor of the breast skos:exactMatch Orphanet:180261 semapv:UnspecifiedMatching +obo:GARD_9517 Bilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97364 semapv:UnspecifiedMatching +obo:GARD_9525 Coccidioidomycosis skos:exactMatch Orphanet:228123 semapv:UnspecifiedMatching +obo:GARD_9528 Cyclosporosis skos:exactMatch Orphanet:210 semapv:UnspecifiedMatching +obo:GARD_953 Congenital bowing of long bones skos:exactMatch Orphanet:2292 semapv:UnspecifiedMatching +obo:GARD_953 Congenital bowing of long bones skos:narrowMatch OMIM:211355 semapv:UnspecifiedMatching +obo:GARD_953 Congenital bowing of long bones skos:narrowMatch OMIM:264050 semapv:UnspecifiedMatching +obo:GARD_9534 Chronic Epstein-Barr virus infection syndrome skos:exactMatch Orphanet:2566 semapv:UnspecifiedMatching +obo:GARD_9534 Chronic Epstein-Barr virus infection syndrome skos:narrowMatch OMIM:226990 semapv:UnspecifiedMatching +obo:GARD_9535 Familial cold urticaria skos:exactMatch Orphanet:47045 semapv:UnspecifiedMatching +obo:GARD_9535 Familial cold urticaria skos:narrowMatch OMIM:120100 semapv:UnspecifiedMatching +obo:GARD_9535 Familial cold urticaria skos:narrowMatch OMIM:616115 semapv:UnspecifiedMatching +obo:GARD_9546 Melioidosis skos:exactMatch Orphanet:31202 semapv:UnspecifiedMatching +obo:GARD_9546 Melioidosis skos:narrowMatch OMIM:615557 semapv:UnspecifiedMatching +obo:GARD_955 Branchioskeletogenital syndrome skos:exactMatch Orphanet:1299 semapv:UnspecifiedMatching +obo:GARD_955 Branchioskeletogenital syndrome skos:narrowMatch OMIM:211380 semapv:UnspecifiedMatching +obo:GARD_9550 Variant Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576370 semapv:UnspecifiedMatching +obo:GARD_9553 Post-transplant lymphoproliferative disease skos:exactMatch Orphanet:70568 semapv:UnspecifiedMatching +obo:GARD_9557 Rat-bite fever skos:exactMatch Orphanet:31205 semapv:UnspecifiedMatching +obo:GARD_9558 Autosomal dominant severe congenital neutropenia skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching +obo:GARD_9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:202700 semapv:UnspecifiedMatching +obo:GARD_9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:257100 semapv:UnspecifiedMatching +obo:GARD_9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:613107 semapv:UnspecifiedMatching +obo:GARD_9558 Autosomal dominant severe congenital neutropenia skos:narrowMatch OMIM:618752 semapv:UnspecifiedMatching +obo:GARD_9560 Bacterial toxic-shock syndrome skos:exactMatch Orphanet:36234 semapv:UnspecifiedMatching +obo:GARD_9564 Typhoid skos:exactMatch Orphanet:99745 semapv:UnspecifiedMatching +obo:GARD_9568 IgG4-related retroperitoneal fibrosis skos:exactMatch Orphanet:49041 semapv:UnspecifiedMatching +obo:GARD_9568 IgG4-related retroperitoneal fibrosis skos:narrowMatch OMIM:228800 semapv:UnspecifiedMatching +obo:GARD_9569 Dermatofibrosarcoma protuberans skos:exactMatch Orphanet:31112 semapv:UnspecifiedMatching +obo:GARD_9569 Dermatofibrosarcoma protuberans skos:narrowMatch OMIM:607907 semapv:UnspecifiedMatching +obo:GARD_957 SPECC1L-related hypertelorism syndrome skos:exactMatch Orphanet:1519 semapv:UnspecifiedMatching +obo:GARD_957 SPECC1L-related hypertelorism syndrome skos:narrowMatch OMIM:145420 semapv:UnspecifiedMatching +obo:GARD_9571 Hereditary clear cell renal cell carcinoma skos:exactMatch Orphanet:422526 semapv:UnspecifiedMatching +obo:GARD_9571 Hereditary clear cell renal cell carcinoma skos:narrowMatch OMIM:144700 semapv:UnspecifiedMatching +obo:GARD_9572 Papillary renal cell carcinoma skos:exactMatch Orphanet:319298 semapv:UnspecifiedMatching +obo:GARD_9573 Collecting duct carcinoma skos:exactMatch Orphanet:247203 semapv:UnspecifiedMatching +obo:GARD_9574 Clear cell renal carcinoma skos:exactMatch Orphanet:319276 semapv:UnspecifiedMatching +obo:GARD_9578 Acute fatty liver of pregnancy skos:exactMatch Orphanet:243367 semapv:UnspecifiedMatching +obo:GARD_958 Aymé-Gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching +obo:GARD_958 Aymé-Gripp syndrome skos:narrowMatch OMIM:601088 semapv:UnspecifiedMatching +obo:GARD_958 Aymé-Gripp syndrome skos:narrowMatch OMIM:601353 semapv:UnspecifiedMatching +obo:GARD_9581 Autosomal recessive spastic paraplegia type 15 skos:exactMatch Orphanet:100996 semapv:UnspecifiedMatching +obo:GARD_9581 Autosomal recessive spastic paraplegia type 15 skos:narrowMatch OMIM:270700 semapv:UnspecifiedMatching +obo:GARD_9582 Autosomal recessive spastic paraplegia type 25 skos:exactMatch Orphanet:101005 semapv:UnspecifiedMatching +obo:GARD_9582 Autosomal recessive spastic paraplegia type 25 skos:narrowMatch OMIM:608220 semapv:UnspecifiedMatching +obo:GARD_9583 Autosomal dominant spastic paraplegia type 9A skos:exactMatch Orphanet:447753 semapv:UnspecifiedMatching +obo:GARD_9583 Autosomal dominant spastic paraplegia type 9A skos:narrowMatch OMIM:601162 semapv:UnspecifiedMatching +obo:GARD_9585 X-linked spastic paraplegia type 16 skos:exactMatch Orphanet:100997 semapv:UnspecifiedMatching +obo:GARD_9585 X-linked spastic paraplegia type 16 skos:narrowMatch OMIM:300266 semapv:UnspecifiedMatching +obo:GARD_9586 Autosomal dominant spastic paraplegia type 12 skos:exactMatch Orphanet:100993 semapv:UnspecifiedMatching +obo:GARD_9586 Autosomal dominant spastic paraplegia type 12 skos:narrowMatch OMIM:604805 semapv:UnspecifiedMatching +obo:GARD_9587 Autosomal recessive spastic paraplegia type 26 skos:exactMatch Orphanet:101006 semapv:UnspecifiedMatching +obo:GARD_9587 Autosomal recessive spastic paraplegia type 26 skos:narrowMatch OMIM:609195 semapv:UnspecifiedMatching +obo:GARD_9588 Autosomal dominant spastic paraplegia type 19 skos:exactMatch Orphanet:100999 semapv:UnspecifiedMatching +obo:GARD_9588 Autosomal dominant spastic paraplegia type 19 skos:narrowMatch OMIM:607152 semapv:UnspecifiedMatching +obo:GARD_9589 Autosomal recessive spastic paraplegia type 14 skos:exactMatch Orphanet:100995 semapv:UnspecifiedMatching +obo:GARD_9589 Autosomal recessive spastic paraplegia type 14 skos:narrowMatch OMIM:605229 semapv:UnspecifiedMatching +obo:GARD_9590 Autosomal dominant spastic paraplegia type 10 skos:exactMatch Orphanet:100991 semapv:UnspecifiedMatching +obo:GARD_9590 Autosomal dominant spastic paraplegia type 10 skos:narrowMatch OMIM:604187 semapv:UnspecifiedMatching +obo:GARD_9591 Autosomal dominant spastic paraplegia type 8 skos:exactMatch Orphanet:100989 semapv:UnspecifiedMatching +obo:GARD_9591 Autosomal dominant spastic paraplegia type 8 skos:narrowMatch OMIM:603563 semapv:UnspecifiedMatching +obo:GARD_9595 Congenital atransferrinemia skos:exactMatch Orphanet:1195 semapv:UnspecifiedMatching +obo:GARD_9595 Congenital atransferrinemia skos:narrowMatch OMIM:209300 semapv:UnspecifiedMatching +obo:GARD_9598 Basal ganglia calcification, idiopathic, childhood-onset skos:broadMatch Orphanet:51 semapv:UnspecifiedMatching +obo:GARD_9598 Basal ganglia calcification, idiopathic, childhood-onset skos:exactMatch OMIM:114100 semapv:UnspecifiedMatching +obo:GARD_960 Brachydactylous dwarfism, Mseleni type skos:exactMatch Orphanet:2619 semapv:UnspecifiedMatching +obo:GARD_960 Brachydactylous dwarfism, Mseleni type skos:narrowMatch OMIM:613342 semapv:UnspecifiedMatching +obo:GARD_9602 Familial paroxysmal ataxia skos:exactMatch Orphanet:97 semapv:UnspecifiedMatching +obo:GARD_9602 Familial paroxysmal ataxia skos:narrowMatch OMIM:108500 semapv:UnspecifiedMatching +obo:GARD_9611 Spinocerebellar ataxia type 13 skos:exactMatch Orphanet:98768 semapv:UnspecifiedMatching +obo:GARD_9611 Spinocerebellar ataxia type 13 skos:narrowMatch OMIM:605259 semapv:UnspecifiedMatching +obo:GARD_9615 Giant cell arteritis skos:exactMatch Orphanet:397 semapv:UnspecifiedMatching +obo:GARD_9615 Giant cell arteritis skos:narrowMatch OMIM:187360 semapv:UnspecifiedMatching +obo:GARD_9616 Autosomal dominant spastic paraplegia type 13 skos:exactMatch Orphanet:100994 semapv:UnspecifiedMatching +obo:GARD_9616 Autosomal dominant spastic paraplegia type 13 skos:narrowMatch OMIM:605280 semapv:UnspecifiedMatching +obo:GARD_9620 Acute erythroid leukemia skos:exactMatch Orphanet:318 semapv:UnspecifiedMatching +obo:GARD_9620 Acute erythroid leukemia skos:narrowMatch OMIM:133180 semapv:UnspecifiedMatching +obo:GARD_9621 Polyembryoma skos:exactMatch Orphanet:180229 semapv:UnspecifiedMatching +obo:GARD_9626 Axenfeld-rieger syndrome, type 3 skos:broadMatch Orphanet:782 semapv:UnspecifiedMatching +obo:GARD_9626 Axenfeld-rieger syndrome, type 3 skos:broadMatch Orphanet:91483 semapv:UnspecifiedMatching +obo:GARD_9626 Axenfeld-rieger syndrome, type 3 skos:broadMatch Orphanet:98978 semapv:UnspecifiedMatching +obo:GARD_9626 Axenfeld-rieger syndrome, type 3 skos:exactMatch OMIM:602482 semapv:UnspecifiedMatching +obo:GARD_9628 Rapid-onset dystonia-parkinsonism skos:exactMatch Orphanet:71517 semapv:UnspecifiedMatching +obo:GARD_9628 Rapid-onset dystonia-parkinsonism skos:narrowMatch OMIM:128235 semapv:UnspecifiedMatching +obo:GARD_9630 Primary dystonia, DYT6 type skos:exactMatch Orphanet:98806 semapv:UnspecifiedMatching +obo:GARD_9630 Primary dystonia, DYT6 type skos:narrowMatch OMIM:602629 semapv:UnspecifiedMatching +obo:GARD_9631 Torsion dystonia with onset in infancy skos:broadMatch Orphanet:256 semapv:UnspecifiedMatching +obo:GARD_9631 Torsion dystonia with onset in infancy skos:exactMatch OMIM:602554 semapv:UnspecifiedMatching +obo:GARD_9632 Odontoleukodystrophy skos:exactMatch Orphanet:77295 semapv:UnspecifiedMatching +obo:GARD_9632 Odontoleukodystrophy skos:narrowMatch OMIM:607694 semapv:UnspecifiedMatching +obo:GARD_9633 Fundus dystrophy, pseudoinflammatory, recessive form skos:broadMatch Orphanet:59181 semapv:UnspecifiedMatching +obo:GARD_9633 Fundus dystrophy, pseudoinflammatory, recessive form skos:exactMatch OMIM:264420 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:208150 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:300073 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618388 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618389 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618393 semapv:UnspecifiedMatching +obo:GARD_9634 Fetal akinesia deformation sequence skos:narrowMatch OMIM:618975 semapv:UnspecifiedMatching +obo:GARD_9635 Pruritic urticarial papules and plaques of pregnancy skos:exactMatch Orphanet:64745 semapv:UnspecifiedMatching +obo:GARD_9635 Pruritic urticarial papules and plaques of pregnancy skos:narrowMatch OMIM:178995 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:exactMatch Orphanet:33110 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:601495 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:612692 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613500 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613501 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613502 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:613506 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:615214 semapv:UnspecifiedMatching +obo:GARD_9640 Autosomal agammaglobulinemia skos:narrowMatch OMIM:616941 semapv:UnspecifiedMatching +obo:GARD_9642 Parkinson disease 2, autosomal recessive juvenile skos:broadMatch Orphanet:2828 semapv:UnspecifiedMatching +obo:GARD_9642 Parkinson disease 2, autosomal recessive juvenile skos:exactMatch OMIM:600116 semapv:UnspecifiedMatching +obo:GARD_9643 Pseudoxanthoma elasticum skos:exactMatch Orphanet:758 semapv:UnspecifiedMatching +obo:GARD_9643 Pseudoxanthoma elasticum skos:narrowMatch OMIM:177850 semapv:UnspecifiedMatching +obo:GARD_9643 Pseudoxanthoma elasticum skos:narrowMatch OMIM:264800 semapv:UnspecifiedMatching +obo:GARD_9647 Gelatinous drop-like corneal dystrophy skos:exactMatch Orphanet:98957 semapv:UnspecifiedMatching +obo:GARD_9647 Gelatinous drop-like corneal dystrophy skos:narrowMatch OMIM:204870 semapv:UnspecifiedMatching +obo:GARD_9649 Achromatopsia 2 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +obo:GARD_9649 Achromatopsia 2 skos:exactMatch OMIM:216900 semapv:UnspecifiedMatching +obo:GARD_9650 Achromatopsia 3 skos:broadMatch Orphanet:49382 semapv:UnspecifiedMatching +obo:GARD_9650 Achromatopsia 3 skos:exactMatch OMIM:262300 semapv:UnspecifiedMatching +obo:GARD_9652 Oncogenic osteomalacia skos:exactMatch Orphanet:352540 semapv:UnspecifiedMatching +obo:GARD_9654 Hydroa vacciniforme skos:exactMatch Orphanet:330058 semapv:UnspecifiedMatching +obo:GARD_9657 Anauxetic dysplasia skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching +obo:GARD_9657 Anauxetic dysplasia skos:narrowMatch OMIM:607095 semapv:UnspecifiedMatching +obo:GARD_9657 Anauxetic dysplasia skos:narrowMatch OMIM:617396 semapv:UnspecifiedMatching +obo:GARD_9657 Anauxetic dysplasia skos:narrowMatch OMIM:618853 semapv:UnspecifiedMatching +obo:GARD_9659 Bartter syndrome type 3 skos:exactMatch Orphanet:93605 semapv:UnspecifiedMatching +obo:GARD_9659 Bartter syndrome type 3 skos:narrowMatch OMIM:607364 semapv:UnspecifiedMatching +obo:GARD_966 Brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch Orphanet:1275 semapv:UnspecifiedMatching +obo:GARD_966 Brachydactyly-elbow wrist dysplasia syndrome skos:narrowMatch OMIM:186550 semapv:UnspecifiedMatching +obo:GARD_9661 Leber congenital amaurosis 3 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_9661 Leber congenital amaurosis 3 skos:exactMatch OMIM:604232 semapv:UnspecifiedMatching +obo:GARD_9662 Leber congenital amaurosis 4 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_9662 Leber congenital amaurosis 4 skos:exactMatch OMIM:604393 semapv:UnspecifiedMatching +obo:GARD_9665 Gynandroblastoma skos:exactMatch Orphanet:99914 semapv:UnspecifiedMatching +obo:GARD_967 Brachydactyly-arterial hypertension syndrome skos:exactMatch Orphanet:1276 semapv:UnspecifiedMatching +obo:GARD_967 Brachydactyly-arterial hypertension syndrome skos:narrowMatch OMIM:112410 semapv:UnspecifiedMatching +obo:GARD_9670 Congenital factor XI deficiency skos:exactMatch Orphanet:329 semapv:UnspecifiedMatching +obo:GARD_9670 Congenital factor XI deficiency skos:narrowMatch OMIM:612416 semapv:UnspecifiedMatching +obo:GARD_9673 Mowat-Wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching +obo:GARD_9673 Mowat-Wilson syndrome skos:narrowMatch OMIM:235730 semapv:UnspecifiedMatching +obo:GARD_9675 Isotretinoin-like syndrome skos:exactMatch Orphanet:2306 semapv:UnspecifiedMatching +obo:GARD_9675 Isotretinoin-like syndrome skos:narrowMatch OMIM:243440 semapv:UnspecifiedMatching +obo:GARD_9676 Miyoshi myopathy skos:exactMatch Orphanet:45448 semapv:UnspecifiedMatching +obo:GARD_9676 Miyoshi myopathy skos:narrowMatch OMIM:254130 semapv:UnspecifiedMatching +obo:GARD_9676 Miyoshi myopathy skos:narrowMatch OMIM:613318 semapv:UnspecifiedMatching +obo:GARD_9677 Granular corneal dystrophy type I skos:exactMatch Orphanet:98962 semapv:UnspecifiedMatching +obo:GARD_9677 Granular corneal dystrophy type I skos:narrowMatch OMIM:121900 semapv:UnspecifiedMatching +obo:GARD_9678 Lattice corneal dystrophy type I skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching +obo:GARD_9678 Lattice corneal dystrophy type I skos:narrowMatch OMIM:122200 semapv:UnspecifiedMatching +obo:GARD_9678 Lattice corneal dystrophy type I skos:narrowMatch OMIM:608471 semapv:UnspecifiedMatching +obo:GARD_9679 Temtamy preaxial brachydactyly syndrome skos:exactMatch Orphanet:363417 semapv:UnspecifiedMatching +obo:GARD_9679 Temtamy preaxial brachydactyly syndrome skos:narrowMatch OMIM:605282 semapv:UnspecifiedMatching +obo:GARD_968 Brachydactyly-long thumb syndrome skos:exactMatch Orphanet:2946 semapv:UnspecifiedMatching +obo:GARD_968 Brachydactyly-long thumb syndrome skos:narrowMatch OMIM:112430 semapv:UnspecifiedMatching +obo:GARD_9681 RHYNS syndrome skos:exactMatch Orphanet:140976 semapv:UnspecifiedMatching +obo:GARD_9681 RHYNS syndrome skos:narrowMatch OMIM:602152 semapv:UnspecifiedMatching +obo:GARD_9682 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch Orphanet:309803 semapv:UnspecifiedMatching +obo:GARD_9682 Rhizomelic chondrodysplasia punctata type 3 skos:narrowMatch OMIM:600121 semapv:UnspecifiedMatching +obo:GARD_9683 Chylomicron retention disease skos:exactMatch Orphanet:71 semapv:UnspecifiedMatching +obo:GARD_9683 Chylomicron retention disease skos:narrowMatch OMIM:246700 semapv:UnspecifiedMatching +obo:GARD_9684 Sandifer syndrome skos:exactMatch Orphanet:71272 semapv:UnspecifiedMatching +obo:GARD_9687 Schistosomiasis skos:exactMatch Orphanet:1247 semapv:UnspecifiedMatching +obo:GARD_9687 Schistosomiasis skos:narrowMatch OMIM:181460 semapv:UnspecifiedMatching +obo:GARD_9688 Meesmann corneal dystrophy skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching +obo:GARD_9688 Meesmann corneal dystrophy skos:narrowMatch OMIM:122100 semapv:UnspecifiedMatching +obo:GARD_9688 Meesmann corneal dystrophy skos:narrowMatch OMIM:618767 semapv:UnspecifiedMatching +obo:GARD_9689 Myasthenic syndrome, congenital, 6, presynaptic skos:broadMatch Orphanet:98914 semapv:UnspecifiedMatching +obo:GARD_9689 Myasthenic syndrome, congenital, 6, presynaptic skos:exactMatch OMIM:254210 semapv:UnspecifiedMatching +obo:GARD_9690 Kienbock disease skos:exactMatch Orphanet:97332 semapv:UnspecifiedMatching +obo:GARD_9692 Congenital patella dislocation skos:exactMatch Orphanet:295036 semapv:UnspecifiedMatching +obo:GARD_9694 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching +obo:GARD_9694 Junctional epidermolysis bullosa with pyloric atresia skos:narrowMatch OMIM:226730 semapv:UnspecifiedMatching +obo:GARD_9696 Ring dermoid of cornea skos:exactMatch Orphanet:91481 semapv:UnspecifiedMatching +obo:GARD_9696 Ring dermoid of cornea skos:narrowMatch OMIM:180550 semapv:UnspecifiedMatching +obo:GARD_9697 Monomelic amyotrophy skos:exactMatch Orphanet:65684 semapv:UnspecifiedMatching +obo:GARD_9697 Monomelic amyotrophy skos:narrowMatch OMIM:602440 semapv:UnspecifiedMatching +obo:GARD_9698 Recombinant 8 syndrome skos:exactMatch Orphanet:96167 semapv:UnspecifiedMatching +obo:GARD_9698 Recombinant 8 syndrome skos:narrowMatch OMIM:179613 semapv:UnspecifiedMatching +obo:GARD_9701 Spinal intradural arachnoid cysts skos:broadMatch Orphanet:2356 semapv:UnspecifiedMatching +obo:GARD_9701 Spinal intradural arachnoid cysts skos:exactMatch OMIM:182990 semapv:UnspecifiedMatching +obo:GARD_9703 Spondylocostal dysostosis 2, autosomal recessive skos:broadMatch Orphanet:2311 semapv:UnspecifiedMatching +obo:GARD_9703 Spondylocostal dysostosis 2, autosomal recessive skos:exactMatch OMIM:608681 semapv:UnspecifiedMatching +obo:GARD_9704 X-linked intellectual disability, Siderius type skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching +obo:GARD_9704 X-linked intellectual disability, Siderius type skos:narrowMatch OMIM:300263 semapv:UnspecifiedMatching +obo:GARD_9705 Ectodermal dysplasia-skin fragility syndrome skos:exactMatch Orphanet:158668 semapv:UnspecifiedMatching +obo:GARD_9705 Ectodermal dysplasia-skin fragility syndrome skos:narrowMatch OMIM:604536 semapv:UnspecifiedMatching +obo:GARD_9706 Snowflake vitreoretinal degeneration skos:exactMatch Orphanet:91496 semapv:UnspecifiedMatching +obo:GARD_9706 Snowflake vitreoretinal degeneration skos:narrowMatch OMIM:193230 semapv:UnspecifiedMatching +obo:GARD_9707 Familial cylindromatosis skos:exactMatch Orphanet:211 semapv:UnspecifiedMatching +obo:GARD_9707 Familial cylindromatosis skos:narrowMatch OMIM:132700 semapv:UnspecifiedMatching +obo:GARD_971 Brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch Orphanet:1246 semapv:UnspecifiedMatching +obo:GARD_971 Brachydactyly-nystagmus-cerebellar ataxia syndrome skos:narrowMatch OMIM:113400 semapv:UnspecifiedMatching +obo:GARD_9711 Lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching +obo:GARD_9711 Lathosterolosis skos:narrowMatch OMIM:607330 semapv:UnspecifiedMatching +obo:GARD_9715 Griscelli syndrome type 3 skos:exactMatch Orphanet:79478 semapv:UnspecifiedMatching +obo:GARD_9715 Griscelli syndrome type 3 skos:narrowMatch OMIM:609227 semapv:UnspecifiedMatching +obo:GARD_972 Brachydactyly-preaxial hallux varus syndrome skos:exactMatch Orphanet:1278 semapv:UnspecifiedMatching +obo:GARD_972 Brachydactyly-preaxial hallux varus syndrome skos:narrowMatch OMIM:112450 semapv:UnspecifiedMatching +obo:GARD_9723 Ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch Orphanet:1883 semapv:UnspecifiedMatching +obo:GARD_9723 Ectodermal dysplasia-sensorineural deafness syndrome skos:narrowMatch OMIM:224800 semapv:UnspecifiedMatching +obo:GARD_9725 Nephrogenic systemic fibrosis skos:exactMatch Orphanet:137617 semapv:UnspecifiedMatching +obo:GARD_9726 Deafness, autosomal dominant 17 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_9726 Deafness, autosomal dominant 17 skos:exactMatch OMIM:603622 semapv:UnspecifiedMatching +obo:GARD_9728 Proximal myotonic myopathy skos:exactMatch Orphanet:606 semapv:UnspecifiedMatching +obo:GARD_9728 Proximal myotonic myopathy skos:narrowMatch OMIM:602668 semapv:UnspecifiedMatching +obo:GARD_9729 Autosomal dominant spastic paraplegia type 29 skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching +obo:GARD_9729 Autosomal dominant spastic paraplegia type 29 skos:narrowMatch OMIM:609727 semapv:UnspecifiedMatching +obo:GARD_9730 Glycogen storage disease due to LAMP-2 deficiency skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching +obo:GARD_9730 Glycogen storage disease due to LAMP-2 deficiency skos:narrowMatch OMIM:300257 semapv:UnspecifiedMatching +obo:GARD_9732 Epithelial basement membrane dystrophy skos:exactMatch Orphanet:98956 semapv:UnspecifiedMatching +obo:GARD_9732 Epithelial basement membrane dystrophy skos:narrowMatch OMIM:121820 semapv:UnspecifiedMatching +obo:GARD_9733 Ichthyosis, congenital, autosomal recessive 4a skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_9733 Ichthyosis, congenital, autosomal recessive 4a skos:exactMatch OMIM:601277 semapv:UnspecifiedMatching +obo:GARD_9734 Ichthyosis, congenital, autosomal recessive 5 skos:broadMatch Orphanet:313 semapv:UnspecifiedMatching +obo:GARD_9734 Ichthyosis, congenital, autosomal recessive 5 skos:exactMatch OMIM:604777 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:exactMatch Orphanet:79394 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:242100 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:606545 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:612281 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615022 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615023 semapv:UnspecifiedMatching +obo:GARD_9736 Congenital non-bullous ichthyosiform erythroderma skos:narrowMatch OMIM:615024 semapv:UnspecifiedMatching +obo:GARD_9737 Epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch Orphanet:79397 semapv:UnspecifiedMatching +obo:GARD_9737 Epidermolysis bullosa simplex with mottled pigmentation skos:narrowMatch OMIM:131960 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:exactMatch Orphanet:334 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:607554 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:608583 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:608988 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:611493 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:611494 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:611819 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:612201 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:612240 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:613055 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:613120 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:613980 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:614022 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:614049 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:614050 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:615377 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:615378 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:615770 semapv:UnspecifiedMatching +obo:GARD_9740 Familial atrial fibrillation skos:narrowMatch OMIM:617280 semapv:UnspecifiedMatching +obo:GARD_9741 Neurological conditions associated with aminoacylase 1 deficiency skos:exactMatch Orphanet:137754 semapv:UnspecifiedMatching +obo:GARD_9741 Neurological conditions associated with aminoacylase 1 deficiency skos:narrowMatch OMIM:609924 semapv:UnspecifiedMatching +obo:GARD_9742 Ankylostomiasis skos:exactMatch Orphanet:78 semapv:UnspecifiedMatching +obo:GARD_9744 Atrophoderma vermiculata skos:exactMatch Orphanet:79100 semapv:UnspecifiedMatching +obo:GARD_9744 Atrophoderma vermiculata skos:narrowMatch OMIM:209700 semapv:UnspecifiedMatching +obo:GARD_9744 Atrophoderma vermiculata skos:narrowMatch OMIM:604093 semapv:UnspecifiedMatching +obo:GARD_9748 Systemic sclerosis skos:exactMatch Orphanet:90291 semapv:UnspecifiedMatching +obo:GARD_9748 Systemic sclerosis skos:narrowMatch OMIM:181750 semapv:UnspecifiedMatching +obo:GARD_9749 Limited systemic sclerosis skos:exactMatch Orphanet:220407 semapv:UnspecifiedMatching +obo:GARD_9751 Diffuse cutaneous systemic sclerosis skos:exactMatch Orphanet:220393 semapv:UnspecifiedMatching +obo:GARD_9755 Infantile nephropathic cystinosis skos:exactMatch Orphanet:411629 semapv:UnspecifiedMatching +obo:GARD_9755 Infantile nephropathic cystinosis skos:narrowMatch OMIM:219800 semapv:UnspecifiedMatching +obo:GARD_9756 Ocular cystinosis skos:exactMatch Orphanet:411641 semapv:UnspecifiedMatching +obo:GARD_9756 Ocular cystinosis skos:narrowMatch OMIM:219750 semapv:UnspecifiedMatching +obo:GARD_9758 Familial hypocalciuric hypercalcemia type 2 skos:exactMatch Orphanet:101049 semapv:UnspecifiedMatching +obo:GARD_9758 Familial hypocalciuric hypercalcemia type 2 skos:narrowMatch OMIM:145981 semapv:UnspecifiedMatching +obo:GARD_9759 Leukonychia totalis skos:exactMatch Orphanet:2387 semapv:UnspecifiedMatching +obo:GARD_9759 Leukonychia totalis skos:narrowMatch OMIM:151600 semapv:UnspecifiedMatching +obo:GARD_9761 Isolated congenital onychodysplasia skos:exactMatch Orphanet:79144 semapv:UnspecifiedMatching +obo:GARD_9761 Isolated congenital onychodysplasia skos:narrowMatch OMIM:605779 semapv:UnspecifiedMatching +obo:GARD_9762 Potocki-Shaffer syndrome skos:exactMatch Orphanet:52022 semapv:UnspecifiedMatching +obo:GARD_9762 Potocki-Shaffer syndrome skos:narrowMatch OMIM:601224 semapv:UnspecifiedMatching +obo:GARD_9766 Morvan syndrome skos:exactMatch Orphanet:83467 semapv:UnspecifiedMatching +obo:GARD_9767 Necrotizing enterocolitis skos:exactMatch Orphanet:391673 semapv:UnspecifiedMatching +obo:GARD_9769 Oligoastrocytoma skos:exactMatch Orphanet:251656 semapv:UnspecifiedMatching +obo:GARD_9775 Dowling-Degos disease skos:exactMatch Orphanet:79145 semapv:UnspecifiedMatching +obo:GARD_9775 Dowling-Degos disease skos:narrowMatch OMIM:179850 semapv:UnspecifiedMatching +obo:GARD_9775 Dowling-Degos disease skos:narrowMatch OMIM:615327 semapv:UnspecifiedMatching +obo:GARD_9775 Dowling-Degos disease skos:narrowMatch OMIM:615674 semapv:UnspecifiedMatching +obo:GARD_9775 Dowling-Degos disease skos:narrowMatch OMIM:615696 semapv:UnspecifiedMatching +obo:GARD_9778 CANOMAD syndrome skos:exactMatch Orphanet:71279 semapv:UnspecifiedMatching +obo:GARD_978 Brachydactyly type A1 skos:exactMatch Orphanet:93388 semapv:UnspecifiedMatching +obo:GARD_978 Brachydactyly type A1 skos:narrowMatch OMIM:112500 semapv:UnspecifiedMatching +obo:GARD_978 Brachydactyly type A1 skos:narrowMatch OMIM:607004 semapv:UnspecifiedMatching +obo:GARD_978 Brachydactyly type A1 skos:narrowMatch OMIM:615072 semapv:UnspecifiedMatching +obo:GARD_978 Brachydactyly type A1 skos:narrowMatch OMIM:616849 semapv:UnspecifiedMatching +obo:GARD_9781 Proximal Xq28 duplication syndrome skos:exactMatch Orphanet:1762 semapv:UnspecifiedMatching +obo:GARD_9781 Proximal Xq28 duplication syndrome skos:narrowMatch OMIM:300260 semapv:UnspecifiedMatching +obo:GARD_9781 Proximal Xq28 duplication syndrome skos:narrowMatch OMIM:300815 semapv:UnspecifiedMatching +obo:GARD_9787 Parkes Weber syndrome skos:exactMatch Orphanet:90307 semapv:UnspecifiedMatching +obo:GARD_9787 Parkes Weber syndrome skos:narrowMatch OMIM:608354 semapv:UnspecifiedMatching +obo:GARD_9789 Rare lymphatic malformation skos:exactMatch Orphanet:2415 semapv:UnspecifiedMatching +obo:GARD_979 Brachydactyly type A2 skos:exactMatch Orphanet:93396 semapv:UnspecifiedMatching +obo:GARD_979 Brachydactyly type A2 skos:narrowMatch OMIM:112600 semapv:UnspecifiedMatching +obo:GARD_9791 Epiphyseal dysplasia, multiple, 2 skos:broadMatch Orphanet:166002 semapv:UnspecifiedMatching +obo:GARD_9791 Epiphyseal dysplasia, multiple, 2 skos:exactMatch OMIM:600204 semapv:UnspecifiedMatching +obo:GARD_9792 Epiphyseal dysplasia, multiple, 3 skos:broadMatch Orphanet:166002 semapv:UnspecifiedMatching +obo:GARD_9792 Epiphyseal dysplasia, multiple, 3 skos:exactMatch OMIM:600969 semapv:UnspecifiedMatching +obo:GARD_9793 Multiple epiphyseal dysplasia type 4 skos:exactMatch Orphanet:93307 semapv:UnspecifiedMatching +obo:GARD_9793 Multiple epiphyseal dysplasia type 4 skos:narrowMatch OMIM:226900 semapv:UnspecifiedMatching +obo:GARD_9794 Multiple epiphyseal dysplasia type 5 skos:exactMatch Orphanet:93311 semapv:UnspecifiedMatching +obo:GARD_9794 Multiple epiphyseal dysplasia type 5 skos:narrowMatch OMIM:607078 semapv:UnspecifiedMatching +obo:GARD_9795 Naxos disease skos:exactMatch Orphanet:34217 semapv:UnspecifiedMatching +obo:GARD_9795 Naxos disease skos:narrowMatch OMIM:601214 semapv:UnspecifiedMatching +obo:GARD_9796 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:exactMatch Orphanet:275517 semapv:UnspecifiedMatching +obo:GARD_9796 Autoimmune lymphoproliferative syndrome with recurrent viral infections skos:narrowMatch OMIM:607271 semapv:UnspecifiedMatching +obo:GARD_9797 Dianzani autoimmune lymphoproliferative disease skos:exactMatch Orphanet:275523 semapv:UnspecifiedMatching +obo:GARD_9797 Dianzani autoimmune lymphoproliferative disease skos:narrowMatch OMIM:605233 semapv:UnspecifiedMatching +obo:GARD_9798 Auriculocondylar syndrome skos:exactMatch Orphanet:137888 semapv:UnspecifiedMatching +obo:GARD_9798 Auriculocondylar syndrome skos:narrowMatch OMIM:602483 semapv:UnspecifiedMatching +obo:GARD_9798 Auriculocondylar syndrome skos:narrowMatch OMIM:612798 semapv:UnspecifiedMatching +obo:GARD_9798 Auriculocondylar syndrome skos:narrowMatch OMIM:614669 semapv:UnspecifiedMatching +obo:GARD_9798 Auriculocondylar syndrome skos:narrowMatch OMIM:615706 semapv:UnspecifiedMatching +obo:GARD_9799 Familial cutaneous collagenoma skos:exactMatch Orphanet:53296 semapv:UnspecifiedMatching +obo:GARD_9799 Familial cutaneous collagenoma skos:narrowMatch OMIM:115250 semapv:UnspecifiedMatching +obo:GARD_9802 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch Orphanet:79306 semapv:UnspecifiedMatching +obo:GARD_9802 Progressive familial intrahepatic cholestasis type 1 skos:narrowMatch OMIM:211600 semapv:UnspecifiedMatching +obo:GARD_9803 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch Orphanet:480483 semapv:UnspecifiedMatching +obo:GARD_9803 Progressive familial intrahepatic cholestasis type 4 skos:narrowMatch OMIM:615878 semapv:UnspecifiedMatching +obo:GARD_9804 Intrahepatic cholestasis of pregnancy skos:exactMatch Orphanet:69665 semapv:UnspecifiedMatching +obo:GARD_9804 Intrahepatic cholestasis of pregnancy skos:narrowMatch OMIM:147480 semapv:UnspecifiedMatching +obo:GARD_9804 Intrahepatic cholestasis of pregnancy skos:narrowMatch OMIM:614972 semapv:UnspecifiedMatching +obo:GARD_9806 Vibratory urticaria skos:exactMatch Orphanet:493342 semapv:UnspecifiedMatching +obo:GARD_9806 Vibratory urticaria skos:narrowMatch OMIM:125630 semapv:UnspecifiedMatching +obo:GARD_9808 Pilocytic astrocytoma skos:exactMatch Orphanet:251612 semapv:UnspecifiedMatching +obo:GARD_9809 Enteropathy-associated T-cell lymphoma skos:exactMatch Orphanet:86880 semapv:UnspecifiedMatching +obo:GARD_9810 Dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch Orphanet:156731 semapv:UnspecifiedMatching +obo:GARD_9810 Dyssegmental dysplasia, Rolland-Desbuquois type skos:narrowMatch OMIM:224400 semapv:UnspecifiedMatching +obo:GARD_9811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch Orphanet:3044 semapv:UnspecifiedMatching +obo:GARD_9811 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:narrowMatch OMIM:249599 semapv:UnspecifiedMatching +obo:GARD_9812 T-cell large granular lymphocyte leukemia skos:exactMatch Orphanet:86872 semapv:UnspecifiedMatching +obo:GARD_9813 Congenital bile acid synthesis defect type 1 skos:exactMatch Orphanet:79301 semapv:UnspecifiedMatching +obo:GARD_9813 Congenital bile acid synthesis defect type 1 skos:narrowMatch OMIM:607765 semapv:UnspecifiedMatching +obo:GARD_9814 Tukel syndrome skos:broadMatch Orphanet:45358 semapv:UnspecifiedMatching +obo:GARD_9814 Tukel syndrome skos:exactMatch OMIM:609428 semapv:UnspecifiedMatching +obo:GARD_9817 Autosomal dominant dopa-responsive dystonia skos:exactMatch Orphanet:98808 semapv:UnspecifiedMatching +obo:GARD_9817 Autosomal dominant dopa-responsive dystonia skos:narrowMatch OMIM:128230 semapv:UnspecifiedMatching +obo:GARD_9818 Developmental malformations-deafness-dystonia syndrome skos:exactMatch Orphanet:79107 semapv:UnspecifiedMatching +obo:GARD_9818 Developmental malformations-deafness-dystonia syndrome skos:narrowMatch OMIM:607371 semapv:UnspecifiedMatching +obo:GARD_9820 Catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:464343 semapv:UnspecifiedMatching +obo:GARD_9821 Pattern dystrophy skos:exactMatch Orphanet:63454 semapv:UnspecifiedMatching +obo:GARD_9826 PMM2-CDG skos:exactMatch Orphanet:79318 semapv:UnspecifiedMatching +obo:GARD_9826 PMM2-CDG skos:narrowMatch OMIM:212065 semapv:UnspecifiedMatching +obo:GARD_9827 ALG3-CDG skos:exactMatch Orphanet:79321 semapv:UnspecifiedMatching +obo:GARD_9827 ALG3-CDG skos:narrowMatch OMIM:601110 semapv:UnspecifiedMatching +obo:GARD_9828 MGAT2-CDG skos:exactMatch Orphanet:79329 semapv:UnspecifiedMatching +obo:GARD_9828 MGAT2-CDG skos:narrowMatch OMIM:212066 semapv:UnspecifiedMatching +obo:GARD_9829 ALG6-CDG skos:exactMatch Orphanet:79320 semapv:UnspecifiedMatching +obo:GARD_9829 ALG6-CDG skos:narrowMatch OMIM:603147 semapv:UnspecifiedMatching +obo:GARD_983 Brachydactyly type A6 skos:exactMatch Orphanet:93382 semapv:UnspecifiedMatching +obo:GARD_983 Brachydactyly type A6 skos:narrowMatch OMIM:112910 semapv:UnspecifiedMatching +obo:GARD_9830 MPI-CDG skos:exactMatch Orphanet:79319 semapv:UnspecifiedMatching +obo:GARD_9830 MPI-CDG skos:narrowMatch OMIM:602579 semapv:UnspecifiedMatching +obo:GARD_9831 DPM1-CDG skos:exactMatch Orphanet:79322 semapv:UnspecifiedMatching +obo:GARD_9831 DPM1-CDG skos:narrowMatch OMIM:608799 semapv:UnspecifiedMatching +obo:GARD_9832 MPDU1-CDG skos:exactMatch Orphanet:79323 semapv:UnspecifiedMatching +obo:GARD_9832 MPDU1-CDG skos:narrowMatch OMIM:609180 semapv:UnspecifiedMatching +obo:GARD_9833 ALG12-CDG skos:exactMatch Orphanet:79324 semapv:UnspecifiedMatching +obo:GARD_9833 ALG12-CDG skos:narrowMatch OMIM:607143 semapv:UnspecifiedMatching +obo:GARD_9834 ALG8-CDG skos:exactMatch Orphanet:79325 semapv:UnspecifiedMatching +obo:GARD_9834 ALG8-CDG skos:narrowMatch OMIM:608104 semapv:UnspecifiedMatching +obo:GARD_9835 Emanuel syndrome skos:exactMatch Orphanet:96170 semapv:UnspecifiedMatching +obo:GARD_9835 Emanuel syndrome skos:narrowMatch OMIM:609029 semapv:UnspecifiedMatching +obo:GARD_9836 ALG2-CDG skos:exactMatch Orphanet:79326 semapv:UnspecifiedMatching +obo:GARD_9836 ALG2-CDG skos:narrowMatch OMIM:607906 semapv:UnspecifiedMatching +obo:GARD_9837 DPAGT1-CDG skos:exactMatch Orphanet:86309 semapv:UnspecifiedMatching +obo:GARD_9837 DPAGT1-CDG skos:narrowMatch OMIM:608093 semapv:UnspecifiedMatching +obo:GARD_9838 ALG1-CDG skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching +obo:GARD_9838 ALG1-CDG skos:narrowMatch OMIM:608540 semapv:UnspecifiedMatching +obo:GARD_9839 ALG9-CDG skos:exactMatch Orphanet:79328 semapv:UnspecifiedMatching +obo:GARD_9839 ALG9-CDG skos:narrowMatch OMIM:263210 semapv:UnspecifiedMatching +obo:GARD_9839 ALG9-CDG skos:narrowMatch OMIM:608776 semapv:UnspecifiedMatching +obo:GARD_984 Brachydactyly type A7 skos:exactMatch Orphanet:93397 semapv:UnspecifiedMatching +obo:GARD_9841 B4GALT1-CDG skos:exactMatch Orphanet:79332 semapv:UnspecifiedMatching +obo:GARD_9841 B4GALT1-CDG skos:narrowMatch OMIM:607091 semapv:UnspecifiedMatching +obo:GARD_9842 COG7-CDG skos:exactMatch Orphanet:79333 semapv:UnspecifiedMatching +obo:GARD_9842 COG7-CDG skos:narrowMatch OMIM:608779 semapv:UnspecifiedMatching +obo:GARD_9843 Primary familial polycythemia skos:exactMatch Orphanet:90042 semapv:UnspecifiedMatching +obo:GARD_9843 Primary familial polycythemia skos:narrowMatch OMIM:133100 semapv:UnspecifiedMatching +obo:GARD_9844 Microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch Orphanet:2637 semapv:UnspecifiedMatching +obo:GARD_9844 Microcephalic osteodysplastic primordial dwarfism type II skos:narrowMatch OMIM:210720 semapv:UnspecifiedMatching +obo:GARD_9846 Heart-hand syndrome, Slovenian type skos:exactMatch Orphanet:168796 semapv:UnspecifiedMatching +obo:GARD_9846 Heart-hand syndrome, Slovenian type skos:narrowMatch OMIM:610140 semapv:UnspecifiedMatching +obo:GARD_9847 Heart-hand syndrome type 2 skos:exactMatch Orphanet:1350 semapv:UnspecifiedMatching +obo:GARD_9848 Congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch Orphanet:71278 semapv:UnspecifiedMatching +obo:GARD_9848 Congenital brain dysgenesis due to glutamine synthetase deficiency skos:narrowMatch OMIM:610015 semapv:UnspecifiedMatching +obo:GARD_9849 Goldberg-Shprintzen megacolon syndrome skos:exactMatch Orphanet:66629 semapv:UnspecifiedMatching +obo:GARD_9849 Goldberg-Shprintzen megacolon syndrome skos:narrowMatch OMIM:609460 semapv:UnspecifiedMatching +obo:GARD_985 Brachydactyly type B skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching +obo:GARD_985 Brachydactyly type B skos:narrowMatch OMIM:113000 semapv:UnspecifiedMatching +obo:GARD_985 Brachydactyly type B skos:narrowMatch OMIM:611377 semapv:UnspecifiedMatching +obo:GARD_9850 Omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch Orphanet:3164 semapv:UnspecifiedMatching +obo:GARD_9850 Omphalocele syndrome, Shprintzen-Goldberg type skos:narrowMatch OMIM:182210 semapv:UnspecifiedMatching +obo:GARD_986 Brachydactyly type C skos:exactMatch Orphanet:93384 semapv:UnspecifiedMatching +obo:GARD_986 Brachydactyly type C skos:narrowMatch OMIM:113100 semapv:UnspecifiedMatching +obo:GARD_9863 Synostoses, tarsal, carpal, and digital skos:broadMatch Orphanet:1412 semapv:UnspecifiedMatching +obo:GARD_9863 Synostoses, tarsal, carpal, and digital skos:exactMatch OMIM:186400 semapv:UnspecifiedMatching +obo:GARD_9866 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 semapv:UnspecifiedMatching +obo:GARD_9866 Spondyloepimetaphyseal dysplasia with multiple dislocations skos:narrowMatch OMIM:603546 semapv:UnspecifiedMatching +obo:GARD_9867 Spinocerebellar ataxia type 14 skos:exactMatch Orphanet:98763 semapv:UnspecifiedMatching +obo:GARD_9867 Spinocerebellar ataxia type 14 skos:narrowMatch OMIM:605361 semapv:UnspecifiedMatching +obo:GARD_987 Brachydactyly type E skos:exactMatch Orphanet:93387 semapv:UnspecifiedMatching +obo:GARD_987 Brachydactyly type E skos:narrowMatch OMIM:113300 semapv:UnspecifiedMatching +obo:GARD_987 Brachydactyly type E skos:narrowMatch OMIM:613382 semapv:UnspecifiedMatching +obo:GARD_9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:71212 semapv:UnspecifiedMatching +obo:GARD_9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:231530 semapv:UnspecifiedMatching +obo:GARD_9870 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:narrowMatch OMIM:609975 semapv:UnspecifiedMatching +obo:GARD_9873 Lateral meningocele syndrome skos:exactMatch Orphanet:2789 semapv:UnspecifiedMatching +obo:GARD_9873 Lateral meningocele syndrome skos:narrowMatch OMIM:130720 semapv:UnspecifiedMatching +obo:GARD_9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:broadMatch Orphanet:275872 semapv:UnspecifiedMatching +obo:GARD_9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:broadMatch Orphanet:803 semapv:UnspecifiedMatching +obo:GARD_9874 Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:exactMatch OMIM:608030 semapv:UnspecifiedMatching +obo:GARD_9876 Aortic aneurysm, familial thoracic 4 skos:broadMatch Orphanet:91387 semapv:UnspecifiedMatching +obo:GARD_9876 Aortic aneurysm, familial thoracic 4 skos:exactMatch OMIM:132900 semapv:UnspecifiedMatching +obo:GARD_9879 Fibular aplasia-complex brachydactyly syndrome skos:exactMatch Orphanet:2639 semapv:UnspecifiedMatching +obo:GARD_9879 Fibular aplasia-complex brachydactyly syndrome skos:narrowMatch OMIM:228900 semapv:UnspecifiedMatching +obo:GARD_9882 Hyperandrogenism due to cortisone reductase deficiency skos:exactMatch Orphanet:168588 semapv:UnspecifiedMatching +obo:GARD_9882 Hyperandrogenism due to cortisone reductase deficiency skos:narrowMatch OMIM:604931 semapv:UnspecifiedMatching +obo:GARD_9882 Hyperandrogenism due to cortisone reductase deficiency skos:narrowMatch OMIM:614662 semapv:UnspecifiedMatching +obo:GARD_9884 Juvenile myelomonocytic leukemia skos:exactMatch Orphanet:86834 semapv:UnspecifiedMatching +obo:GARD_9884 Juvenile myelomonocytic leukemia skos:narrowMatch OMIM:607785 semapv:UnspecifiedMatching +obo:GARD_9885 Noonan syndrome 3 skos:broadMatch Orphanet:648 semapv:UnspecifiedMatching +obo:GARD_9885 Noonan syndrome 3 skos:exactMatch OMIM:609942 semapv:UnspecifiedMatching +obo:GARD_9886 Ichthyosis-prematurity syndrome skos:exactMatch Orphanet:88621 semapv:UnspecifiedMatching +obo:GARD_9886 Ichthyosis-prematurity syndrome skos:narrowMatch OMIM:608649 semapv:UnspecifiedMatching +obo:GARD_9887 Benign concentric annular macular dystrophy skos:exactMatch Orphanet:251287 semapv:UnspecifiedMatching +obo:GARD_9887 Benign concentric annular macular dystrophy skos:narrowMatch OMIM:153870 semapv:UnspecifiedMatching +obo:GARD_9888 Pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching +obo:GARD_9888 Pyruvate dehydrogenase phosphatase deficiency skos:narrowMatch OMIM:608782 semapv:UnspecifiedMatching +obo:GARD_9890 Autosomal dominant optic atrophy, classic form skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching +obo:GARD_9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:165500 semapv:UnspecifiedMatching +obo:GARD_9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:605293 semapv:UnspecifiedMatching +obo:GARD_9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:610708 semapv:UnspecifiedMatching +obo:GARD_9890 Autosomal dominant optic atrophy, classic form skos:narrowMatch OMIM:618977 semapv:UnspecifiedMatching +obo:GARD_9892 Cataract 18 skos:broadMatch Orphanet:98991 semapv:UnspecifiedMatching +obo:GARD_9892 Cataract 18 skos:exactMatch OMIM:610019 semapv:UnspecifiedMatching +obo:GARD_9895 Myasthenic syndrome, congenital, 2a, slow-channel skos:broadMatch Orphanet:98913 semapv:UnspecifiedMatching +obo:GARD_9895 Myasthenic syndrome, congenital, 2a, slow-channel skos:exactMatch OMIM:616313 semapv:UnspecifiedMatching +obo:GARD_9898 Posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:88628 semapv:UnspecifiedMatching +obo:GARD_9898 Posterior column ataxia-retinitis pigmentosa syndrome skos:narrowMatch OMIM:609033 semapv:UnspecifiedMatching +obo:GARD_990 Brachydactyly type A4 skos:exactMatch Orphanet:93394 semapv:UnspecifiedMatching +obo:GARD_990 Brachydactyly type A4 skos:narrowMatch OMIM:112800 semapv:UnspecifiedMatching +obo:GARD_9900 Congenital pulmonary lymphangiectasia skos:exactMatch Orphanet:2414 semapv:UnspecifiedMatching +obo:GARD_9900 Congenital pulmonary lymphangiectasia skos:narrowMatch OMIM:265300 semapv:UnspecifiedMatching +obo:GARD_9901 Telangiectasia, hereditary hemorrhagic, type 2 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +obo:GARD_9901 Telangiectasia, hereditary hemorrhagic, type 2 skos:exactMatch OMIM:600376 semapv:UnspecifiedMatching +obo:GARD_9902 Telangiectasia, hereditary hemorrhagic, type 3 skos:broadMatch Orphanet:774 semapv:UnspecifiedMatching +obo:GARD_9902 Telangiectasia, hereditary hemorrhagic, type 3 skos:exactMatch OMIM:601101 semapv:UnspecifiedMatching +obo:GARD_9903 Polysyndactyly skos:exactMatch Orphanet:93338 semapv:UnspecifiedMatching +obo:GARD_9903 Polysyndactyly skos:narrowMatch OMIM:174700 semapv:UnspecifiedMatching +obo:GARD_9904 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch Orphanet:75325 semapv:UnspecifiedMatching +obo:GARD_9904 Osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:narrowMatch OMIM:609993 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:exactMatch Orphanet:144 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:120435 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:609310 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:613244 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:614331 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:614337 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:614350 semapv:UnspecifiedMatching +obo:GARD_9905 Lynch syndrome skos:narrowMatch OMIM:614385 semapv:UnspecifiedMatching +obo:GARD_9907 Amyopathic dermatomyositis skos:broadMatch Orphanet:221 semapv:UnspecifiedMatching +obo:GARD_9909 Arthrogryposis, distal, type 2b1 skos:broadMatch Orphanet:1147 semapv:UnspecifiedMatching +obo:GARD_9909 Arthrogryposis, distal, type 2b1 skos:exactMatch OMIM:601680 semapv:UnspecifiedMatching +obo:GARD_9910 Lethal acantholytic erosive disorder skos:exactMatch Orphanet:158687 semapv:UnspecifiedMatching +obo:GARD_9910 Lethal acantholytic erosive disorder skos:narrowMatch OMIM:609638 semapv:UnspecifiedMatching +obo:GARD_9911 Fibromatosis, gingival, 3 skos:broadMatch Orphanet:2024 semapv:UnspecifiedMatching +obo:GARD_9911 Fibromatosis, gingival, 3 skos:exactMatch OMIM:609955 semapv:UnspecifiedMatching +obo:GARD_9912 Lennox-Gastaut syndrome skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +obo:GARD_9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:615369 semapv:UnspecifiedMatching +obo:GARD_9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:616346 semapv:UnspecifiedMatching +obo:GARD_9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:617113 semapv:UnspecifiedMatching +obo:GARD_9912 Lennox-Gastaut syndrome skos:narrowMatch OMIM:618141 semapv:UnspecifiedMatching +obo:GARD_9914 Glomerulopathy with fibronectin deposits 2 skos:broadMatch Orphanet:84090 semapv:UnspecifiedMatching +obo:GARD_9914 Glomerulopathy with fibronectin deposits 2 skos:exactMatch OMIM:601894 semapv:UnspecifiedMatching +obo:GARD_9916 Multiple synostoses syndrome 2 skos:broadMatch Orphanet:3237 semapv:UnspecifiedMatching +obo:GARD_9916 Multiple synostoses syndrome 2 skos:exactMatch OMIM:610017 semapv:UnspecifiedMatching +obo:GARD_9918 Deafness, autosomal recessive 51 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_9918 Deafness, autosomal recessive 51 skos:exactMatch OMIM:609941 semapv:UnspecifiedMatching +obo:GARD_9919 Deafness, autosomal recessive 55 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_9919 Deafness, autosomal recessive 55 skos:exactMatch OMIM:609952 semapv:UnspecifiedMatching +obo:GARD_992 Oculoosteocutaneous syndrome skos:exactMatch Orphanet:2713 semapv:UnspecifiedMatching +obo:GARD_992 Oculoosteocutaneous syndrome skos:narrowMatch OMIM:211370 semapv:UnspecifiedMatching +obo:GARD_9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching +obo:GARD_9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:narrowMatch OMIM:603041 semapv:UnspecifiedMatching +obo:GARD_9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:narrowMatch OMIM:612075 semapv:UnspecifiedMatching +obo:GARD_9920 Mitochondrial neurogastrointestinal encephalomyopathy skos:narrowMatch OMIM:613662 semapv:UnspecifiedMatching +obo:GARD_9921 Nasu-Hakola disease skos:exactMatch Orphanet:2770 semapv:UnspecifiedMatching +obo:GARD_9921 Nasu-Hakola disease skos:narrowMatch OMIM:221770 semapv:UnspecifiedMatching +obo:GARD_9921 Nasu-Hakola disease skos:narrowMatch OMIM:618193 semapv:UnspecifiedMatching +obo:GARD_9922 Hemophagocytic lymphohistiocytosis, familial, 2 skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +obo:GARD_9922 Hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch OMIM:603553 semapv:UnspecifiedMatching +obo:GARD_9928 Hemophagocytic lymphohistiocytosis, familial, 3 skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +obo:GARD_9928 Hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch OMIM:608898 semapv:UnspecifiedMatching +obo:GARD_9929 Hemophagocytic lymphohistiocytosis, familial, 4 skos:broadMatch Orphanet:540 semapv:UnspecifiedMatching +obo:GARD_9929 Hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch OMIM:603552 semapv:UnspecifiedMatching +obo:GARD_9931 Hyperinsulinism-hyperammonemia syndrome skos:exactMatch Orphanet:35878 semapv:UnspecifiedMatching +obo:GARD_9931 Hyperinsulinism-hyperammonemia syndrome skos:narrowMatch OMIM:606762 semapv:UnspecifiedMatching +obo:GARD_9932 Exercise-induced hyperinsulinism skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching +obo:GARD_9932 Exercise-induced hyperinsulinism skos:narrowMatch OMIM:610021 semapv:UnspecifiedMatching +obo:GARD_9933 Deafness, autosomal dominant 3a skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_9933 Deafness, autosomal dominant 3a skos:exactMatch OMIM:601544 semapv:UnspecifiedMatching +obo:GARD_9934 Deafness, autosomal dominant 53 skos:broadMatch Orphanet:90635 semapv:UnspecifiedMatching +obo:GARD_9934 Deafness, autosomal dominant 53 skos:exactMatch OMIM:609965 semapv:UnspecifiedMatching +obo:GARD_9935 Deafness, autosomal recessive 47 skos:broadMatch Orphanet:90636 semapv:UnspecifiedMatching +obo:GARD_9935 Deafness, autosomal recessive 47 skos:exactMatch OMIM:609946 semapv:UnspecifiedMatching +obo:GARD_9936 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching +obo:GARD_9936 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:narrowMatch OMIM:300291 semapv:UnspecifiedMatching +obo:GARD_9936 Hypohidrotic ectodermal dysplasia with immunodeficiency skos:narrowMatch OMIM:612132 semapv:UnspecifiedMatching +obo:GARD_9937 Myopia 6 skos:broadMatch Orphanet:98619 semapv:UnspecifiedMatching +obo:GARD_9937 Myopia 6 skos:exactMatch OMIM:608908 semapv:UnspecifiedMatching +obo:GARD_994 Spondyloepiphyseal dysplasia, Maroteaux type skos:exactMatch Orphanet:263482 semapv:UnspecifiedMatching +obo:GARD_994 Spondyloepiphyseal dysplasia, Maroteaux type skos:narrowMatch OMIM:184095 semapv:UnspecifiedMatching +obo:GARD_9940 CEDNIK syndrome skos:exactMatch Orphanet:66631 semapv:UnspecifiedMatching +obo:GARD_9940 CEDNIK syndrome skos:narrowMatch OMIM:609528 semapv:UnspecifiedMatching +obo:GARD_9941 Facioscapulohumeral dystrophy skos:exactMatch Orphanet:269 semapv:UnspecifiedMatching +obo:GARD_9941 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:158900 semapv:UnspecifiedMatching +obo:GARD_9941 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:158901 semapv:UnspecifiedMatching +obo:GARD_9941 Facioscapulohumeral dystrophy skos:narrowMatch OMIM:600416 semapv:UnspecifiedMatching +obo:GARD_9943 Amelogenesis imperfecta, type ie skos:broadMatch Orphanet:100033 semapv:UnspecifiedMatching +obo:GARD_9943 Amelogenesis imperfecta, type ie skos:exactMatch OMIM:301200 semapv:UnspecifiedMatching +obo:GARD_9944 Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 skos:broadMatch Orphanet:100031 semapv:UnspecifiedMatching +obo:GARD_9944 Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 skos:exactMatch OMIM:301201 semapv:UnspecifiedMatching +obo:GARD_9947 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:137831 semapv:UnspecifiedMatching +obo:GARD_9947 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:narrowMatch OMIM:300486 semapv:UnspecifiedMatching +obo:GARD_995 Brachyolmia type 1, hobaek type skos:broadMatch Orphanet:448242 semapv:UnspecifiedMatching +obo:GARD_995 Brachyolmia type 1, hobaek type skos:exactMatch OMIM:271530 semapv:UnspecifiedMatching +obo:GARD_9950 Spinocerebellar ataxia type 23 skos:exactMatch Orphanet:101108 semapv:UnspecifiedMatching +obo:GARD_9950 Spinocerebellar ataxia type 23 skos:narrowMatch OMIM:610245 semapv:UnspecifiedMatching +obo:GARD_9951 Spinocerebellar ataxia type 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching +obo:GARD_9951 Spinocerebellar ataxia type 28 skos:narrowMatch OMIM:610246 semapv:UnspecifiedMatching +obo:GARD_9952 Congenital primary aphakia skos:exactMatch Orphanet:83461 semapv:UnspecifiedMatching +obo:GARD_9952 Congenital primary aphakia skos:narrowMatch OMIM:610256 semapv:UnspecifiedMatching +obo:GARD_9953 Oligodendroglioma skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching +obo:GARD_9953 Oligodendroglioma skos:narrowMatch OMIM:137800 semapv:UnspecifiedMatching +obo:GARD_9953 Oligodendroglioma skos:narrowMatch OMIM:616568 semapv:UnspecifiedMatching +obo:GARD_9959 West-Nile encephalitis skos:exactMatch Orphanet:83476 semapv:UnspecifiedMatching +obo:GARD_9959 West-Nile encephalitis skos:narrowMatch OMIM:610379 semapv:UnspecifiedMatching +obo:GARD_9963 Spinocerebellar ataxia type 27 skos:exactMatch Orphanet:98764 semapv:UnspecifiedMatching +obo:GARD_9963 Spinocerebellar ataxia type 27 skos:narrowMatch OMIM:609307 semapv:UnspecifiedMatching +obo:GARD_9964 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch Orphanet:97234 semapv:UnspecifiedMatching +obo:GARD_9964 Glycogen storage disease due to phosphoglycerate mutase deficiency skos:narrowMatch OMIM:261670 semapv:UnspecifiedMatching +obo:GARD_9965 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching +obo:GARD_9965 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:narrowMatch OMIM:610293 semapv:UnspecifiedMatching +obo:GARD_9966 Duane retraction syndrome 2 skos:broadMatch Orphanet:233 semapv:UnspecifiedMatching +obo:GARD_9966 Duane retraction syndrome 2 skos:exactMatch OMIM:604356 semapv:UnspecifiedMatching +obo:GARD_9970 Spinocerebellar ataxia type 4 skos:exactMatch Orphanet:98765 semapv:UnspecifiedMatching +obo:GARD_9970 Spinocerebellar ataxia type 4 skos:narrowMatch OMIM:600223 semapv:UnspecifiedMatching +obo:GARD_9971 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:exactMatch Orphanet:95433 semapv:UnspecifiedMatching +obo:GARD_9971 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome skos:narrowMatch OMIM:271250 semapv:UnspecifiedMatching +obo:GARD_9975 Spinocerebellar ataxia type 31 skos:exactMatch Orphanet:217012 semapv:UnspecifiedMatching +obo:GARD_9975 Spinocerebellar ataxia type 31 skos:narrowMatch OMIM:117210 semapv:UnspecifiedMatching +obo:GARD_9976 Spinocerebellar ataxia type 18 skos:exactMatch Orphanet:98771 semapv:UnspecifiedMatching +obo:GARD_9976 Spinocerebellar ataxia type 18 skos:narrowMatch OMIM:607458 semapv:UnspecifiedMatching +obo:GARD_9977 CAMOS syndrome skos:exactMatch Orphanet:83472 semapv:UnspecifiedMatching +obo:GARD_998 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch Orphanet:1538 semapv:UnspecifiedMatching +obo:GARD_998 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:narrowMatch OMIM:123155 semapv:UnspecifiedMatching +obo:GARD_9980 X-linked spinocerebellar ataxia type 4 skos:exactMatch Orphanet:85292 semapv:UnspecifiedMatching +obo:GARD_9980 X-linked spinocerebellar ataxia type 4 skos:narrowMatch OMIM:301840 semapv:UnspecifiedMatching +obo:GARD_9981 X-linked spinocerebellar ataxia type 3 skos:exactMatch Orphanet:85297 semapv:UnspecifiedMatching +obo:GARD_9981 X-linked spinocerebellar ataxia type 3 skos:narrowMatch OMIM:301790 semapv:UnspecifiedMatching +obo:GARD_9983 Leber congenital amaurosis 5 skos:broadMatch Orphanet:65 semapv:UnspecifiedMatching +obo:GARD_9983 Leber congenital amaurosis 5 skos:exactMatch OMIM:604537 semapv:UnspecifiedMatching +obo:GARD_9984 X-linked intellectual disability, Miles-Carpenter type skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching +obo:GARD_9984 X-linked intellectual disability, Miles-Carpenter type skos:narrowMatch OMIM:314580 semapv:UnspecifiedMatching +obo:GARD_9987 Severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch Orphanet:275 semapv:UnspecifiedMatching +obo:GARD_9987 Severe combined immunodeficiency due to DCLRE1C deficiency skos:narrowMatch OMIM:602450 semapv:UnspecifiedMatching +obo:GARD_9989 Mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch Orphanet:90154 semapv:UnspecifiedMatching +obo:GARD_9989 Mandibuloacral dysplasia with type B lipodystrophy skos:narrowMatch OMIM:608612 semapv:UnspecifiedMatching +obo:GARD_9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching +obo:GARD_9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:130070 semapv:UnspecifiedMatching +obo:GARD_9991 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome skos:narrowMatch OMIM:615349 semapv:UnspecifiedMatching +obo:GARD_9993 Riboflavin transporter deficiency skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching +obo:GARD_9993 Riboflavin transporter deficiency skos:narrowMatch OMIM:211500 semapv:UnspecifiedMatching +obo:GARD_9993 Riboflavin transporter deficiency skos:narrowMatch OMIM:211530 semapv:UnspecifiedMatching +obo:GARD_9993 Riboflavin transporter deficiency skos:narrowMatch OMIM:614707 semapv:UnspecifiedMatching +obo:GARD_9994 Clark-Baraitser syndrome skos:exactMatch Orphanet:600731 semapv:UnspecifiedMatching +obo:GARD_9994 Clark-Baraitser syndrome skos:narrowMatch OMIM:617752 semapv:UnspecifiedMatching +obo:GARD_9995 Spinocerebellar ataxia type 26 skos:exactMatch Orphanet:101112 semapv:UnspecifiedMatching +obo:GARD_9995 Spinocerebellar ataxia type 26 skos:narrowMatch OMIM:609306 semapv:UnspecifiedMatching +obo:GARD_9996 Spinocerebellar ataxia type 25 skos:exactMatch Orphanet:101111 semapv:UnspecifiedMatching +obo:GARD_9996 Spinocerebellar ataxia type 25 skos:narrowMatch OMIM:608703 semapv:UnspecifiedMatching +obo:GARD_9997 Spinocerebellar ataxia type 20 skos:exactMatch Orphanet:101110 semapv:UnspecifiedMatching +obo:GARD_9997 Spinocerebellar ataxia type 20 skos:narrowMatch OMIM:608687 semapv:UnspecifiedMatching +obo:GARD_9998 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:exactMatch Orphanet:70595 semapv:UnspecifiedMatching +obo:GARD_9998 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome skos:narrowMatch OMIM:607459 semapv:UnspecifiedMatching +obo:GARD_9999 Spinocerebellar ataxia type 21 skos:exactMatch Orphanet:98773 semapv:UnspecifiedMatching +obo:GARD_9999 Spinocerebellar ataxia type 21 skos:narrowMatch OMIM:607454 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index e2e55058..e68cb658 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/59eed594-404e-40e1-b0f6-49f667f578cd +# mapping_set_id: https://w3id.org/sssom/mappings/54958876-ad10-4b71-a196-e4022b995340 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 5d5e95ef..0dd79347 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/77fc6ba9-3d98-45cb-8747-e4a21cf6beae +# mapping_set_id: https://w3id.org/sssom/mappings/54265bb7-d705-4425-b6a2-1a813cc28755 diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 12727b5c..a6852903 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/00f4aae1-d0dd-4902-a5ca-758705da51fe +# mapping_set_id: https://w3id.org/sssom/mappings/786e2753-4cf7-458c-9406-2500129faa60 subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 9d498ae8..0b745ecc 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -1,10 +1,11 @@ -# creator_id: https://orcid.org/0000-0002-2906-7319 +# creator_id: +# - https://orcid.org/0000-0002-2906-7319 # curie_map: # OMIM: https://omim.org/entry/ +# Orphanet: http://www.orpha.net/ORDO/Orphanet_ # UMLS: http://linkedlifedata.com/resource/umls/id/ -# hgnc: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ +# hgnc.symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ # ncbigene: https://www.ncbi.nlm.nih.gov/gene/ -# orphanet.ordo: http://www.orpha.net/ORDO/Orphanet_ # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# @@ -17,274 +18,386 @@ # command `make ../mappings/omim.sssom.tsv` from within `src/ontology`. ' # mapping_set_id: http://purl.obolibrary.org/obo/mondo/sources/mappings/omim.sssom.tsv subject_id subject_label predicate_id object_id mapping_justification +OMIM:100100 prune belly syndrome skos:exactMatch Orphanet:2970 semapv:UnspecifiedMatching OMIM:100100 prune belly syndrome skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching -OMIM:100100 prune belly syndrome skos:exactMatch orphanet.ordo:2970 semapv:UnspecifiedMatching -OMIM:100640 ALDH1A1 skos:exactMatch hgnc:ALDH1A1 semapv:UnspecifiedMatching +OMIM:100640 ALDH1A1 skos:exactMatch hgnc.symbol:402 semapv:UnspecifiedMatching +OMIM:100640 ALDH1A1 skos:exactMatch hgnc.symbol:ALDH1A1 semapv:UnspecifiedMatching OMIM:100640 ALDH1A1 skos:exactMatch ncbigene:216 semapv:UnspecifiedMatching -OMIM:100650 ALDH2 skos:exactMatch hgnc:ALDH2 semapv:UnspecifiedMatching +OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:404 semapv:UnspecifiedMatching +OMIM:100650 ALDH2 skos:exactMatch hgnc.symbol:ALDH2 semapv:UnspecifiedMatching OMIM:100650 ALDH2 skos:exactMatch ncbigene:217 semapv:UnspecifiedMatching -OMIM:100660 ALDH3A1 skos:exactMatch hgnc:ALDH3A1 semapv:UnspecifiedMatching +OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:405 semapv:UnspecifiedMatching +OMIM:100660 ALDH3A1 skos:exactMatch hgnc.symbol:ALDH3A1 semapv:UnspecifiedMatching OMIM:100660 ALDH3A1 skos:exactMatch ncbigene:218 semapv:UnspecifiedMatching -OMIM:100670 ALDH1B1 skos:exactMatch hgnc:ALDH1B1 semapv:UnspecifiedMatching +OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:407 semapv:UnspecifiedMatching +OMIM:100670 ALDH1B1 skos:exactMatch hgnc.symbol:ALDH1B1 semapv:UnspecifiedMatching OMIM:100670 ALDH1B1 skos:exactMatch ncbigene:219 semapv:UnspecifiedMatching -OMIM:100678 ACAT2 skos:exactMatch hgnc:ACAT2 semapv:UnspecifiedMatching +OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:94 semapv:UnspecifiedMatching +OMIM:100678 ACAT2 skos:exactMatch hgnc.symbol:ACAT2 semapv:UnspecifiedMatching OMIM:100678 ACAT2 skos:exactMatch ncbigene:39 semapv:UnspecifiedMatching -OMIM:100690 CHRNA1 skos:exactMatch hgnc:CHRNA1 semapv:UnspecifiedMatching +OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:1955 semapv:UnspecifiedMatching +OMIM:100690 CHRNA1 skos:exactMatch hgnc.symbol:CHRNA1 semapv:UnspecifiedMatching OMIM:100690 CHRNA1 skos:exactMatch ncbigene:1134 semapv:UnspecifiedMatching -OMIM:100710 CHRNB1 skos:exactMatch hgnc:CHRNB1 semapv:UnspecifiedMatching +OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:1961 semapv:UnspecifiedMatching +OMIM:100710 CHRNB1 skos:exactMatch hgnc.symbol:CHRNB1 semapv:UnspecifiedMatching OMIM:100710 CHRNB1 skos:exactMatch ncbigene:1140 semapv:UnspecifiedMatching -OMIM:100720 CHRND skos:exactMatch hgnc:CHRND semapv:UnspecifiedMatching +OMIM:100720 CHRND skos:exactMatch hgnc.symbol:1965 semapv:UnspecifiedMatching +OMIM:100720 CHRND skos:exactMatch hgnc.symbol:CHRND semapv:UnspecifiedMatching OMIM:100720 CHRND skos:exactMatch ncbigene:1144 semapv:UnspecifiedMatching -OMIM:100725 CHRNE skos:exactMatch hgnc:CHRNE semapv:UnspecifiedMatching +OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:1966 semapv:UnspecifiedMatching +OMIM:100725 CHRNE skos:exactMatch hgnc.symbol:CHRNE semapv:UnspecifiedMatching OMIM:100725 CHRNE skos:exactMatch ncbigene:1145 semapv:UnspecifiedMatching -OMIM:100730 CHRNG skos:exactMatch hgnc:CHRNG semapv:UnspecifiedMatching +OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:1967 semapv:UnspecifiedMatching +OMIM:100730 CHRNG skos:exactMatch hgnc.symbol:CHRNG semapv:UnspecifiedMatching OMIM:100730 CHRNG skos:exactMatch ncbigene:1146 semapv:UnspecifiedMatching -OMIM:100740 ACHE skos:exactMatch hgnc:ACHE semapv:UnspecifiedMatching +OMIM:100740 ACHE skos:exactMatch hgnc.symbol:108 semapv:UnspecifiedMatching +OMIM:100740 ACHE skos:exactMatch hgnc.symbol:ACHE semapv:UnspecifiedMatching OMIM:100740 ACHE skos:exactMatch ncbigene:43 semapv:UnspecifiedMatching -OMIM:100790 ASCL1 skos:exactMatch hgnc:ASCL1 semapv:UnspecifiedMatching +OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:738 semapv:UnspecifiedMatching +OMIM:100790 ASCL1 skos:exactMatch hgnc.symbol:ASCL1 semapv:UnspecifiedMatching OMIM:100790 ASCL1 skos:exactMatch ncbigene:429 semapv:UnspecifiedMatching OMIM:100850 ACO2 skos:exactMatch UMLS:C1412127 semapv:UnspecifiedMatching OMIM:100850 ACO2 skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching OMIM:100850 ACO2 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching -OMIM:100850 ACO2 skos:exactMatch hgnc:ACO2 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:118 semapv:UnspecifiedMatching +OMIM:100850 ACO2 skos:exactMatch hgnc.symbol:ACO2 semapv:UnspecifiedMatching OMIM:100850 ACO2 skos:exactMatch ncbigene:50 semapv:UnspecifiedMatching -OMIM:100880 ACO1 skos:exactMatch hgnc:ACO1 semapv:UnspecifiedMatching +OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:117 semapv:UnspecifiedMatching +OMIM:100880 ACO1 skos:exactMatch hgnc.symbol:ACO1 semapv:UnspecifiedMatching OMIM:100880 ACO1 skos:exactMatch ncbigene:48 semapv:UnspecifiedMatching -OMIM:102480 ACR skos:exactMatch hgnc:ACR semapv:UnspecifiedMatching +OMIM:102480 ACR skos:exactMatch hgnc.symbol:126 semapv:UnspecifiedMatching +OMIM:102480 ACR skos:exactMatch hgnc.symbol:ACR semapv:UnspecifiedMatching OMIM:102480 ACR skos:exactMatch ncbigene:49 semapv:UnspecifiedMatching -OMIM:102525 ACRV1 skos:exactMatch hgnc:ACRV1 semapv:UnspecifiedMatching +OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:127 semapv:UnspecifiedMatching +OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:ACRV1 semapv:UnspecifiedMatching OMIM:102525 ACRV1 skos:exactMatch ncbigene:56 semapv:UnspecifiedMatching -OMIM:102540 ACTC1 skos:exactMatch hgnc:ACTC1 semapv:UnspecifiedMatching +OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:143 semapv:UnspecifiedMatching +OMIM:102540 ACTC1 skos:exactMatch hgnc.symbol:ACTC1 semapv:UnspecifiedMatching OMIM:102540 ACTC1 skos:exactMatch ncbigene:70 semapv:UnspecifiedMatching -OMIM:102545 ACTG2 skos:exactMatch hgnc:ACTG2 semapv:UnspecifiedMatching +OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:145 semapv:UnspecifiedMatching +OMIM:102545 ACTG2 skos:exactMatch hgnc.symbol:ACTG2 semapv:UnspecifiedMatching OMIM:102545 ACTG2 skos:exactMatch ncbigene:72 semapv:UnspecifiedMatching -OMIM:102560 ACTG1 skos:exactMatch hgnc:ACTG1 semapv:UnspecifiedMatching +OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:144 semapv:UnspecifiedMatching +OMIM:102560 ACTG1 skos:exactMatch hgnc.symbol:ACTG1 semapv:UnspecifiedMatching OMIM:102560 ACTG1 skos:exactMatch ncbigene:71 semapv:UnspecifiedMatching -OMIM:102565 FLNC skos:exactMatch hgnc:FLNC semapv:UnspecifiedMatching +OMIM:102565 FLNC skos:exactMatch hgnc.symbol:3756 semapv:UnspecifiedMatching +OMIM:102565 FLNC skos:exactMatch hgnc.symbol:FLNC semapv:UnspecifiedMatching OMIM:102565 FLNC skos:exactMatch ncbigene:2318 semapv:UnspecifiedMatching -OMIM:102573 ACTN2 skos:exactMatch hgnc:ACTN2 semapv:UnspecifiedMatching +OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:164 semapv:UnspecifiedMatching +OMIM:102573 ACTN2 skos:exactMatch hgnc.symbol:ACTN2 semapv:UnspecifiedMatching OMIM:102573 ACTN2 skos:exactMatch ncbigene:88 semapv:UnspecifiedMatching -OMIM:102574 ACTN3 skos:exactMatch hgnc:ACTN3 semapv:UnspecifiedMatching +OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:165 semapv:UnspecifiedMatching +OMIM:102574 ACTN3 skos:exactMatch hgnc.symbol:ACTN3 semapv:UnspecifiedMatching OMIM:102574 ACTN3 skos:exactMatch ncbigene:89 semapv:UnspecifiedMatching -OMIM:102575 ACTN1 skos:exactMatch hgnc:ACTN1 semapv:UnspecifiedMatching +OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:163 semapv:UnspecifiedMatching +OMIM:102575 ACTN1 skos:exactMatch hgnc.symbol:ACTN1 semapv:UnspecifiedMatching OMIM:102575 ACTN1 skos:exactMatch ncbigene:87 semapv:UnspecifiedMatching -OMIM:102576 ACVR1 skos:exactMatch hgnc:ACVR1 semapv:UnspecifiedMatching +OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:171 semapv:UnspecifiedMatching +OMIM:102576 ACVR1 skos:exactMatch hgnc.symbol:ACVR1 semapv:UnspecifiedMatching OMIM:102576 ACVR1 skos:exactMatch ncbigene:90 semapv:UnspecifiedMatching -OMIM:102577 RFC4 skos:exactMatch hgnc:RFC4 semapv:UnspecifiedMatching +OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:9972 semapv:UnspecifiedMatching +OMIM:102577 RFC4 skos:exactMatch hgnc.symbol:RFC4 semapv:UnspecifiedMatching OMIM:102577 RFC4 skos:exactMatch ncbigene:5984 semapv:UnspecifiedMatching -OMIM:102578 PML skos:exactMatch hgnc:PML semapv:UnspecifiedMatching +OMIM:102578 PML skos:exactMatch hgnc.symbol:9113 semapv:UnspecifiedMatching +OMIM:102578 PML skos:exactMatch hgnc.symbol:PML semapv:UnspecifiedMatching OMIM:102578 PML skos:exactMatch ncbigene:5371 semapv:UnspecifiedMatching OMIM:102579 RFC1 skos:exactMatch UMLS:C1419348 semapv:UnspecifiedMatching OMIM:102579 RFC1 skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching -OMIM:102579 RFC1 skos:exactMatch hgnc:RFC1 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:9969 semapv:UnspecifiedMatching +OMIM:102579 RFC1 skos:exactMatch hgnc.symbol:RFC1 semapv:UnspecifiedMatching OMIM:102579 RFC1 skos:exactMatch ncbigene:5981 semapv:UnspecifiedMatching -OMIM:102581 ACVR2A skos:exactMatch hgnc:ACVR2A semapv:UnspecifiedMatching +OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:173 semapv:UnspecifiedMatching +OMIM:102581 ACVR2A skos:exactMatch hgnc.symbol:ACVR2A semapv:UnspecifiedMatching OMIM:102581 ACVR2A skos:exactMatch ncbigene:92 semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch UMLS:C1367307 semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch UMLS:C4014795 semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching -OMIM:102582 STAT3 skos:exactMatch hgnc:STAT3 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch hgnc.symbol:11364 semapv:UnspecifiedMatching +OMIM:102582 STAT3 skos:exactMatch hgnc.symbol:STAT3 semapv:UnspecifiedMatching OMIM:102582 STAT3 skos:exactMatch ncbigene:6774 semapv:UnspecifiedMatching -OMIM:102593 AOAH skos:exactMatch hgnc:AOAH semapv:UnspecifiedMatching +OMIM:102593 AOAH skos:exactMatch hgnc.symbol:548 semapv:UnspecifiedMatching +OMIM:102593 AOAH skos:exactMatch hgnc.symbol:AOAH semapv:UnspecifiedMatching OMIM:102593 AOAH skos:exactMatch ncbigene:313 semapv:UnspecifiedMatching -OMIM:102595 ACYP2 skos:exactMatch hgnc:ACYP2 semapv:UnspecifiedMatching +OMIM:102595 ACYP2 skos:exactMatch hgnc.symbol:180 semapv:UnspecifiedMatching +OMIM:102595 ACYP2 skos:exactMatch hgnc.symbol:ACYP2 semapv:UnspecifiedMatching OMIM:102595 ACYP2 skos:exactMatch ncbigene:98 semapv:UnspecifiedMatching -OMIM:102600 APRT skos:exactMatch hgnc:APRT semapv:UnspecifiedMatching +OMIM:102600 APRT skos:exactMatch hgnc.symbol:626 semapv:UnspecifiedMatching +OMIM:102600 APRT skos:exactMatch hgnc.symbol:APRT semapv:UnspecifiedMatching OMIM:102600 APRT skos:exactMatch ncbigene:353 semapv:UnspecifiedMatching -OMIM:102610 ACTA1 skos:exactMatch hgnc:ACTA1 semapv:UnspecifiedMatching +OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:129 semapv:UnspecifiedMatching +OMIM:102610 ACTA1 skos:exactMatch hgnc.symbol:ACTA1 semapv:UnspecifiedMatching OMIM:102610 ACTA1 skos:exactMatch ncbigene:58 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch UMLS:C1412137 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch UMLS:C2673186 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch UMLS:C3279690 semapv:UnspecifiedMatching -OMIM:102620 ACTA2 skos:exactMatch hgnc:ACTA2 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:130 semapv:UnspecifiedMatching +OMIM:102620 ACTA2 skos:exactMatch hgnc.symbol:ACTA2 semapv:UnspecifiedMatching OMIM:102620 ACTA2 skos:exactMatch ncbigene:59 semapv:UnspecifiedMatching -OMIM:102630 ACTB skos:exactMatch hgnc:ACTB semapv:UnspecifiedMatching +OMIM:102630 ACTB skos:exactMatch hgnc.symbol:132 semapv:UnspecifiedMatching +OMIM:102630 ACTB skos:exactMatch hgnc.symbol:ACTB semapv:UnspecifiedMatching OMIM:102630 ACTB skos:exactMatch ncbigene:60 semapv:UnspecifiedMatching -OMIM:102642 SOAT1 skos:exactMatch hgnc:SOAT1 semapv:UnspecifiedMatching +OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:11177 semapv:UnspecifiedMatching +OMIM:102642 SOAT1 skos:exactMatch hgnc.symbol:SOAT1 semapv:UnspecifiedMatching OMIM:102642 SOAT1 skos:exactMatch ncbigene:6646 semapv:UnspecifiedMatching -OMIM:102645 APEH skos:exactMatch hgnc:APEH semapv:UnspecifiedMatching +OMIM:102645 APEH skos:exactMatch hgnc.symbol:586 semapv:UnspecifiedMatching +OMIM:102645 APEH skos:exactMatch hgnc.symbol:APEH semapv:UnspecifiedMatching OMIM:102645 APEH skos:exactMatch ncbigene:327 semapv:UnspecifiedMatching -OMIM:102670 MADCAM1 skos:exactMatch hgnc:MADCAM1 semapv:UnspecifiedMatching +OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:6765 semapv:UnspecifiedMatching +OMIM:102670 MADCAM1 skos:exactMatch hgnc.symbol:MADCAM1 semapv:UnspecifiedMatching OMIM:102670 MADCAM1 skos:exactMatch ncbigene:8174 semapv:UnspecifiedMatching -OMIM:102680 ADD1 skos:exactMatch hgnc:ADD1 semapv:UnspecifiedMatching +OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:243 semapv:UnspecifiedMatching +OMIM:102680 ADD1 skos:exactMatch hgnc.symbol:ADD1 semapv:UnspecifiedMatching OMIM:102680 ADD1 skos:exactMatch ncbigene:118 semapv:UnspecifiedMatching OMIM:102681 ADD2 skos:exactMatch UMLS:C1412231 semapv:UnspecifiedMatching -OMIM:102681 ADD2 skos:exactMatch hgnc:ADD2 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:244 semapv:UnspecifiedMatching +OMIM:102681 ADD2 skos:exactMatch hgnc.symbol:ADD2 semapv:UnspecifiedMatching OMIM:102681 ADD2 skos:exactMatch ncbigene:119 semapv:UnspecifiedMatching -OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc:AAVS1 semapv:UnspecifiedMatching +OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:22 semapv:UnspecifiedMatching +OMIM:102699 adeno-associated virus integration site 1 skos:exactMatch hgnc.symbol:AAVS1 semapv:UnspecifiedMatching +OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 semapv:UnspecifiedMatching OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C0392607 semapv:UnspecifiedMatching OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch UMLS:C1863236 semapv:UnspecifiedMatching -OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency skos:exactMatch orphanet.ordo:277 semapv:UnspecifiedMatching -OMIM:102720 DPP4 skos:exactMatch hgnc:DPP4 semapv:UnspecifiedMatching +OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:3009 semapv:UnspecifiedMatching +OMIM:102720 DPP4 skos:exactMatch hgnc.symbol:DPP4 semapv:UnspecifiedMatching OMIM:102720 DPP4 skos:exactMatch ncbigene:1803 semapv:UnspecifiedMatching -OMIM:102750 ADK skos:exactMatch hgnc:ADK semapv:UnspecifiedMatching +OMIM:102750 ADK skos:exactMatch hgnc.symbol:257 semapv:UnspecifiedMatching +OMIM:102750 ADK skos:exactMatch hgnc.symbol:ADK semapv:UnspecifiedMatching OMIM:102750 ADK skos:exactMatch ncbigene:132 semapv:UnspecifiedMatching -OMIM:102770 AMPD1 skos:exactMatch hgnc:AMPD1 semapv:UnspecifiedMatching +OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:468 semapv:UnspecifiedMatching +OMIM:102770 AMPD1 skos:exactMatch hgnc.symbol:AMPD1 semapv:UnspecifiedMatching OMIM:102770 AMPD1 skos:exactMatch ncbigene:270 semapv:UnspecifiedMatching -OMIM:102771 AMPD2 skos:exactMatch hgnc:AMPD2 semapv:UnspecifiedMatching +OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:469 semapv:UnspecifiedMatching +OMIM:102771 AMPD2 skos:exactMatch hgnc.symbol:AMPD2 semapv:UnspecifiedMatching OMIM:102771 AMPD2 skos:exactMatch ncbigene:271 semapv:UnspecifiedMatching -OMIM:102772 AMPD3 skos:exactMatch hgnc:AMPD3 semapv:UnspecifiedMatching +OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:470 semapv:UnspecifiedMatching +OMIM:102772 AMPD3 skos:exactMatch hgnc.symbol:AMPD3 semapv:UnspecifiedMatching OMIM:102772 AMPD3 skos:exactMatch ncbigene:272 semapv:UnspecifiedMatching -OMIM:102775 ADORA1 skos:exactMatch hgnc:ADORA1 semapv:UnspecifiedMatching +OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:262 semapv:UnspecifiedMatching +OMIM:102775 ADORA1 skos:exactMatch hgnc.symbol:ADORA1 semapv:UnspecifiedMatching OMIM:102775 ADORA1 skos:exactMatch ncbigene:134 semapv:UnspecifiedMatching -OMIM:102776 ADORA2A skos:exactMatch hgnc:ADORA2A semapv:UnspecifiedMatching +OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:263 semapv:UnspecifiedMatching +OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:ADORA2A semapv:UnspecifiedMatching OMIM:102776 ADORA2A skos:exactMatch ncbigene:135 semapv:UnspecifiedMatching OMIM:102900 adenosine triphosphate, elevated, of erythrocytes skos:exactMatch UMLS:C1863224 semapv:UnspecifiedMatching OMIM:102910 ATP5F1B skos:exactMatch UMLS:C1412653 semapv:UnspecifiedMatching -OMIM:102910 ATP5F1B skos:exactMatch hgnc:ATP5F1B semapv:UnspecifiedMatching +OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:830 semapv:UnspecifiedMatching +OMIM:102910 ATP5F1B skos:exactMatch hgnc.symbol:ATP5F1B semapv:UnspecifiedMatching OMIM:102910 ATP5F1B skos:exactMatch ncbigene:506 semapv:UnspecifiedMatching -OMIM:102980 ADCYAP1 skos:exactMatch hgnc:ADCYAP1 semapv:UnspecifiedMatching +OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:241 semapv:UnspecifiedMatching +OMIM:102980 ADCYAP1 skos:exactMatch hgnc.symbol:ADCYAP1 semapv:UnspecifiedMatching OMIM:102980 ADCYAP1 skos:exactMatch ncbigene:116 semapv:UnspecifiedMatching -OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc:ADCYAP1R1 semapv:UnspecifiedMatching +OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:242 semapv:UnspecifiedMatching +OMIM:102981 ADCYAP1R1 skos:exactMatch hgnc.symbol:ADCYAP1R1 semapv:UnspecifiedMatching OMIM:102981 ADCYAP1R1 skos:exactMatch ncbigene:117 semapv:UnspecifiedMatching -OMIM:103000 AK1 skos:exactMatch hgnc:AK1 semapv:UnspecifiedMatching +OMIM:103000 AK1 skos:exactMatch hgnc.symbol:361 semapv:UnspecifiedMatching +OMIM:103000 AK1 skos:exactMatch hgnc.symbol:AK1 semapv:UnspecifiedMatching OMIM:103000 AK1 skos:exactMatch ncbigene:203 semapv:UnspecifiedMatching -OMIM:103020 AK2 skos:exactMatch hgnc:AK2 semapv:UnspecifiedMatching +OMIM:103020 AK2 skos:exactMatch hgnc.symbol:362 semapv:UnspecifiedMatching +OMIM:103020 AK2 skos:exactMatch hgnc.symbol:AK2 semapv:UnspecifiedMatching OMIM:103020 AK2 skos:exactMatch ncbigene:204 semapv:UnspecifiedMatching -OMIM:103030 AK4 skos:exactMatch hgnc:AK4 semapv:UnspecifiedMatching +OMIM:103030 AK4 skos:exactMatch hgnc.symbol:363 semapv:UnspecifiedMatching +OMIM:103030 AK4 skos:exactMatch hgnc.symbol:AK4 semapv:UnspecifiedMatching OMIM:103030 AK4 skos:exactMatch ncbigene:205 semapv:UnspecifiedMatching -OMIM:103060 ADSS skos:exactMatch hgnc:ADSS2 semapv:UnspecifiedMatching +OMIM:103060 ADSS skos:exactMatch hgnc.symbol:292 semapv:UnspecifiedMatching +OMIM:103060 ADSS skos:exactMatch hgnc.symbol:ADSS2 semapv:UnspecifiedMatching OMIM:103060 ADSS skos:exactMatch ncbigene:159 semapv:UnspecifiedMatching -OMIM:103070 ADCY8 skos:exactMatch hgnc:ADCY8 semapv:UnspecifiedMatching +OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:239 semapv:UnspecifiedMatching +OMIM:103070 ADCY8 skos:exactMatch hgnc.symbol:ADCY8 semapv:UnspecifiedMatching OMIM:103070 ADCY8 skos:exactMatch ncbigene:114 semapv:UnspecifiedMatching -OMIM:103071 ADCY2 skos:exactMatch hgnc:ADCY2 semapv:UnspecifiedMatching +OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:233 semapv:UnspecifiedMatching +OMIM:103071 ADCY2 skos:exactMatch hgnc.symbol:ADCY2 semapv:UnspecifiedMatching OMIM:103071 ADCY2 skos:exactMatch ncbigene:108 semapv:UnspecifiedMatching -OMIM:103072 ADCY1 skos:exactMatch hgnc:ADCY1 semapv:UnspecifiedMatching +OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:232 semapv:UnspecifiedMatching +OMIM:103072 ADCY1 skos:exactMatch hgnc.symbol:ADCY1 semapv:UnspecifiedMatching OMIM:103072 ADCY1 skos:exactMatch ncbigene:107 semapv:UnspecifiedMatching +OMIM:103100 adie pupil skos:exactMatch Orphanet:454718 semapv:UnspecifiedMatching OMIM:103100 adie pupil skos:exactMatch UMLS:C0001519 semapv:UnspecifiedMatching OMIM:103100 adie pupil skos:exactMatch UMLS:C0040416 semapv:UnspecifiedMatching -OMIM:103100 adie pupil skos:exactMatch orphanet.ordo:454718 semapv:UnspecifiedMatching OMIM:103180 ARF1 skos:exactMatch UMLS:C1412504 semapv:UnspecifiedMatching OMIM:103180 ARF1 skos:exactMatch UMLS:C4748602 semapv:UnspecifiedMatching -OMIM:103180 ARF1 skos:exactMatch hgnc:ARF1 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:652 semapv:UnspecifiedMatching +OMIM:103180 ARF1 skos:exactMatch hgnc.symbol:ARF1 semapv:UnspecifiedMatching OMIM:103180 ARF1 skos:exactMatch ncbigene:375 semapv:UnspecifiedMatching -OMIM:103188 ARF5 skos:exactMatch hgnc:ARF5 semapv:UnspecifiedMatching +OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:658 semapv:UnspecifiedMatching +OMIM:103188 ARF5 skos:exactMatch hgnc.symbol:ARF5 semapv:UnspecifiedMatching OMIM:103188 ARF5 skos:exactMatch ncbigene:381 semapv:UnspecifiedMatching -OMIM:103190 ARF3 skos:exactMatch hgnc:ARF3 semapv:UnspecifiedMatching +OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:654 semapv:UnspecifiedMatching +OMIM:103190 ARF3 skos:exactMatch hgnc.symbol:ARF3 semapv:UnspecifiedMatching OMIM:103190 ARF3 skos:exactMatch ncbigene:377 semapv:UnspecifiedMatching -OMIM:103195 PLIN2 skos:exactMatch hgnc:PLIN2 semapv:UnspecifiedMatching +OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:248 semapv:UnspecifiedMatching +OMIM:103195 PLIN2 skos:exactMatch hgnc.symbol:PLIN2 semapv:UnspecifiedMatching OMIM:103195 PLIN2 skos:exactMatch ncbigene:123 semapv:UnspecifiedMatching OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1335833 semapv:UnspecifiedMatching OMIM:103220 SLC25A4 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching OMIM:103220 SLC25A4 skos:exactMatch UMLS:C3809443 semapv:UnspecifiedMatching OMIM:103220 SLC25A4 skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching -OMIM:103220 SLC25A4 skos:exactMatch hgnc:SLC25A4 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:10990 semapv:UnspecifiedMatching +OMIM:103220 SLC25A4 skos:exactMatch hgnc.symbol:SLC25A4 semapv:UnspecifiedMatching OMIM:103220 SLC25A4 skos:exactMatch ncbigene:291 semapv:UnspecifiedMatching -OMIM:103260 FDX1 skos:exactMatch hgnc:FDX1 semapv:UnspecifiedMatching +OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:3638 semapv:UnspecifiedMatching +OMIM:103260 FDX1 skos:exactMatch hgnc.symbol:FDX1 semapv:UnspecifiedMatching OMIM:103260 FDX1 skos:exactMatch ncbigene:2230 semapv:UnspecifiedMatching -OMIM:103270 FDXR skos:exactMatch hgnc:FDXR semapv:UnspecifiedMatching +OMIM:103270 FDXR skos:exactMatch hgnc.symbol:3642 semapv:UnspecifiedMatching +OMIM:103270 FDXR skos:exactMatch hgnc.symbol:FDXR semapv:UnspecifiedMatching OMIM:103270 FDXR skos:exactMatch ncbigene:2232 semapv:UnspecifiedMatching -OMIM:103275 ADM skos:exactMatch hgnc:ADM semapv:UnspecifiedMatching +OMIM:103275 ADM skos:exactMatch hgnc.symbol:259 semapv:UnspecifiedMatching +OMIM:103275 ADM skos:exactMatch hgnc.symbol:ADM semapv:UnspecifiedMatching OMIM:103275 ADM skos:exactMatch ncbigene:133 semapv:UnspecifiedMatching -OMIM:103280 H19 skos:exactMatch hgnc:H19 semapv:UnspecifiedMatching +OMIM:103280 H19 skos:exactMatch hgnc.symbol:4713 semapv:UnspecifiedMatching +OMIM:103280 H19 skos:exactMatch hgnc.symbol:H19 semapv:UnspecifiedMatching OMIM:103280 H19 skos:exactMatch ncbigene:283120 semapv:UnspecifiedMatching +OMIM:103285 adult syndrome skos:exactMatch Orphanet:978 semapv:UnspecifiedMatching OMIM:103285 adult syndrome skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching -OMIM:103285 adult syndrome skos:exactMatch orphanet.ordo:978 semapv:UnspecifiedMatching OMIM:103320 AGRN skos:exactMatch UMLS:C1412285 semapv:UnspecifiedMatching OMIM:103320 AGRN skos:exactMatch UMLS:C3808739 semapv:UnspecifiedMatching -OMIM:103320 AGRN skos:exactMatch hgnc:AGRN semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch hgnc.symbol:329 semapv:UnspecifiedMatching +OMIM:103320 AGRN skos:exactMatch hgnc.symbol:AGRN semapv:UnspecifiedMatching OMIM:103320 AGRN skos:exactMatch ncbigene:375790 semapv:UnspecifiedMatching -OMIM:103390 AHNAK skos:exactMatch hgnc:AHNAK semapv:UnspecifiedMatching +OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:347 semapv:UnspecifiedMatching +OMIM:103390 AHNAK skos:exactMatch hgnc.symbol:AHNAK semapv:UnspecifiedMatching OMIM:103390 AHNAK skos:exactMatch ncbigene:79026 semapv:UnspecifiedMatching +OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch Orphanet:42665 semapv:UnspecifiedMatching OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching -OMIM:103500 tietz albinism-deafness syndrome skos:exactMatch orphanet.ordo:42665 semapv:UnspecifiedMatching -OMIM:103600 ALB skos:exactMatch hgnc:ALB semapv:UnspecifiedMatching +OMIM:103600 ALB skos:exactMatch hgnc.symbol:399 semapv:UnspecifiedMatching +OMIM:103600 ALB skos:exactMatch hgnc.symbol:ALB semapv:UnspecifiedMatching OMIM:103600 ALB skos:exactMatch ncbigene:213 semapv:UnspecifiedMatching -OMIM:103700 ADH1A skos:exactMatch hgnc:ADH1A semapv:UnspecifiedMatching +OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:249 semapv:UnspecifiedMatching +OMIM:103700 ADH1A skos:exactMatch hgnc.symbol:ADH1A semapv:UnspecifiedMatching OMIM:103700 ADH1A skos:exactMatch ncbigene:124 semapv:UnspecifiedMatching -OMIM:103710 ADH5 skos:exactMatch hgnc:ADH5 semapv:UnspecifiedMatching +OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:253 semapv:UnspecifiedMatching +OMIM:103710 ADH5 skos:exactMatch hgnc.symbol:ADH5 semapv:UnspecifiedMatching OMIM:103710 ADH5 skos:exactMatch ncbigene:128 semapv:UnspecifiedMatching -OMIM:103720 ADH1B skos:exactMatch hgnc:ADH1B semapv:UnspecifiedMatching +OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:250 semapv:UnspecifiedMatching +OMIM:103720 ADH1B skos:exactMatch hgnc.symbol:ADH1B semapv:UnspecifiedMatching OMIM:103720 ADH1B skos:exactMatch ncbigene:125 semapv:UnspecifiedMatching -OMIM:103730 ADH1C skos:exactMatch hgnc:ADH1C semapv:UnspecifiedMatching +OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:251 semapv:UnspecifiedMatching +OMIM:103730 ADH1C skos:exactMatch hgnc.symbol:ADH1C semapv:UnspecifiedMatching OMIM:103730 ADH1C skos:exactMatch ncbigene:126 semapv:UnspecifiedMatching -OMIM:103735 ADH6 skos:exactMatch hgnc:ADH6 semapv:UnspecifiedMatching +OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:255 semapv:UnspecifiedMatching +OMIM:103735 ADH6 skos:exactMatch hgnc.symbol:ADH6 semapv:UnspecifiedMatching OMIM:103735 ADH6 skos:exactMatch ncbigene:130 semapv:UnspecifiedMatching -OMIM:103740 ADH4 skos:exactMatch hgnc:ADH4 semapv:UnspecifiedMatching +OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:252 semapv:UnspecifiedMatching +OMIM:103740 ADH4 skos:exactMatch hgnc.symbol:ADH4 semapv:UnspecifiedMatching OMIM:103740 ADH4 skos:exactMatch ncbigene:127 semapv:UnspecifiedMatching OMIM:103780 alcohol dependence skos:exactMatch UMLS:C0001973 semapv:UnspecifiedMatching -OMIM:103830 AKR1A1 skos:exactMatch hgnc:AKR1A1 semapv:UnspecifiedMatching +OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:380 semapv:UnspecifiedMatching +OMIM:103830 AKR1A1 skos:exactMatch hgnc.symbol:AKR1A1 semapv:UnspecifiedMatching OMIM:103830 AKR1A1 skos:exactMatch ncbigene:10327 semapv:UnspecifiedMatching -OMIM:103850 ALDOA skos:exactMatch hgnc:ALDOA semapv:UnspecifiedMatching +OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:414 semapv:UnspecifiedMatching +OMIM:103850 ALDOA skos:exactMatch hgnc.symbol:ALDOA semapv:UnspecifiedMatching OMIM:103850 ALDOA skos:exactMatch ncbigene:226 semapv:UnspecifiedMatching -OMIM:103870 ALDOC skos:exactMatch hgnc:ALDOC semapv:UnspecifiedMatching +OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:418 semapv:UnspecifiedMatching +OMIM:103870 ALDOC skos:exactMatch hgnc.symbol:ALDOC semapv:UnspecifiedMatching OMIM:103870 ALDOC skos:exactMatch ncbigene:230 semapv:UnspecifiedMatching -OMIM:103880 AKR1B1 skos:exactMatch hgnc:AKR1B1 semapv:UnspecifiedMatching +OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:381 semapv:UnspecifiedMatching +OMIM:103880 AKR1B1 skos:exactMatch hgnc.symbol:AKR1B1 semapv:UnspecifiedMatching OMIM:103880 AKR1B1 skos:exactMatch ncbigene:231 semapv:UnspecifiedMatching -OMIM:103950 A2M skos:exactMatch hgnc:A2M semapv:UnspecifiedMatching +OMIM:103950 A2M skos:exactMatch hgnc.symbol:7 semapv:UnspecifiedMatching +OMIM:103950 A2M skos:exactMatch hgnc.symbol:A2M semapv:UnspecifiedMatching OMIM:103950 A2M skos:exactMatch ncbigene:2 semapv:UnspecifiedMatching +OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch UMLS:C3151468 semapv:UnspecifiedMatching -OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch orphanet.ordo:1010 semapv:UnspecifiedMatching -OMIM:104145 AFM skos:exactMatch hgnc:AFM semapv:UnspecifiedMatching +OMIM:104145 AFM skos:exactMatch hgnc.symbol:316 semapv:UnspecifiedMatching +OMIM:104145 AFM skos:exactMatch hgnc.symbol:AFM semapv:UnspecifiedMatching OMIM:104145 AFM skos:exactMatch ncbigene:173 semapv:UnspecifiedMatching -OMIM:104150 AFP skos:exactMatch hgnc:AFP semapv:UnspecifiedMatching +OMIM:104150 AFP skos:exactMatch hgnc.symbol:317 semapv:UnspecifiedMatching +OMIM:104150 AFP skos:exactMatch hgnc.symbol:AFP semapv:UnspecifiedMatching OMIM:104150 AFP skos:exactMatch ncbigene:174 semapv:UnspecifiedMatching OMIM:104155 ZFHX3 skos:exactMatch UMLS:C1412611 semapv:UnspecifiedMatching OMIM:104155 ZFHX3 skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching -OMIM:104155 ZFHX3 skos:exactMatch hgnc:ZFHX3 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:777 semapv:UnspecifiedMatching +OMIM:104155 ZFHX3 skos:exactMatch hgnc.symbol:ZFHX3 semapv:UnspecifiedMatching OMIM:104155 ZFHX3 skos:exactMatch ncbigene:463 semapv:UnspecifiedMatching -OMIM:104160 GANAB skos:exactMatch hgnc:GANAB semapv:UnspecifiedMatching +OMIM:104160 GANAB skos:exactMatch hgnc.symbol:4138 semapv:UnspecifiedMatching +OMIM:104160 GANAB skos:exactMatch hgnc.symbol:GANAB semapv:UnspecifiedMatching OMIM:104160 GANAB skos:exactMatch ncbigene:23193 semapv:UnspecifiedMatching -OMIM:104170 NAGA skos:exactMatch hgnc:NAGA semapv:UnspecifiedMatching +OMIM:104170 NAGA skos:exactMatch hgnc.symbol:7631 semapv:UnspecifiedMatching +OMIM:104170 NAGA skos:exactMatch hgnc.symbol:NAGA semapv:UnspecifiedMatching OMIM:104170 NAGA skos:exactMatch ncbigene:4668 semapv:UnspecifiedMatching -OMIM:104175 GGTA1P skos:exactMatch hgnc:GGTA1 semapv:UnspecifiedMatching +OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:4253 semapv:UnspecifiedMatching +OMIM:104175 GGTA1P skos:exactMatch hgnc.symbol:GGTA1 semapv:UnspecifiedMatching OMIM:104175 GGTA1P skos:exactMatch ncbigene:2681 semapv:UnspecifiedMatching -OMIM:104180 GANC skos:exactMatch hgnc:GANC semapv:UnspecifiedMatching +OMIM:104180 GANC skos:exactMatch hgnc.symbol:4139 semapv:UnspecifiedMatching +OMIM:104180 GANC skos:exactMatch hgnc.symbol:GANC semapv:UnspecifiedMatching OMIM:104180 GANC skos:exactMatch ncbigene:2595 semapv:UnspecifiedMatching -OMIM:104210 ADRA2A skos:exactMatch hgnc:ADRA2A semapv:UnspecifiedMatching +OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:281 semapv:UnspecifiedMatching +OMIM:104210 ADRA2A skos:exactMatch hgnc.symbol:ADRA2A semapv:UnspecifiedMatching OMIM:104210 ADRA2A skos:exactMatch ncbigene:150 semapv:UnspecifiedMatching -OMIM:104219 ADRA1D skos:exactMatch hgnc:ADRA1D semapv:UnspecifiedMatching +OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:280 semapv:UnspecifiedMatching +OMIM:104219 ADRA1D skos:exactMatch hgnc.symbol:ADRA1D semapv:UnspecifiedMatching OMIM:104219 ADRA1D skos:exactMatch ncbigene:146 semapv:UnspecifiedMatching -OMIM:104220 ADRA1B skos:exactMatch hgnc:ADRA1B semapv:UnspecifiedMatching +OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:278 semapv:UnspecifiedMatching +OMIM:104220 ADRA1B skos:exactMatch hgnc.symbol:ADRA1B semapv:UnspecifiedMatching OMIM:104220 ADRA1B skos:exactMatch ncbigene:147 semapv:UnspecifiedMatching -OMIM:104221 ADRA1A skos:exactMatch hgnc:ADRA1A semapv:UnspecifiedMatching +OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:277 semapv:UnspecifiedMatching +OMIM:104221 ADRA1A skos:exactMatch hgnc.symbol:ADRA1A semapv:UnspecifiedMatching OMIM:104221 ADRA1A skos:exactMatch ncbigene:148 semapv:UnspecifiedMatching -OMIM:104225 LRPAP1 skos:exactMatch hgnc:LRPAP1 semapv:UnspecifiedMatching +OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:6701 semapv:UnspecifiedMatching +OMIM:104225 LRPAP1 skos:exactMatch hgnc.symbol:LRPAP1 semapv:UnspecifiedMatching OMIM:104225 LRPAP1 skos:exactMatch ncbigene:4043 semapv:UnspecifiedMatching -OMIM:104230 FUT4 skos:exactMatch hgnc:FUT4 semapv:UnspecifiedMatching +OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:4015 semapv:UnspecifiedMatching +OMIM:104230 FUT4 skos:exactMatch hgnc.symbol:FUT4 semapv:UnspecifiedMatching OMIM:104230 FUT4 skos:exactMatch ncbigene:2526 semapv:UnspecifiedMatching -OMIM:104240 ST3GAL4 skos:exactMatch hgnc:ST3GAL4 semapv:UnspecifiedMatching +OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:10864 semapv:UnspecifiedMatching +OMIM:104240 ST3GAL4 skos:exactMatch hgnc.symbol:ST3GAL4 semapv:UnspecifiedMatching OMIM:104240 ST3GAL4 skos:exactMatch ncbigene:6484 semapv:UnspecifiedMatching -OMIM:104250 ADRA2C skos:exactMatch hgnc:ADRA2C semapv:UnspecifiedMatching +OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:283 semapv:UnspecifiedMatching +OMIM:104250 ADRA2C skos:exactMatch hgnc.symbol:ADRA2C semapv:UnspecifiedMatching OMIM:104250 ADRA2C skos:exactMatch ncbigene:152 semapv:UnspecifiedMatching -OMIM:104260 ADRA2B skos:exactMatch hgnc:ADRA2B semapv:UnspecifiedMatching +OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:282 semapv:UnspecifiedMatching +OMIM:104260 ADRA2B skos:exactMatch hgnc.symbol:ADRA2B semapv:UnspecifiedMatching OMIM:104260 ADRA2B skos:exactMatch ncbigene:151 semapv:UnspecifiedMatching +OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C0002395 semapv:UnspecifiedMatching OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1541844 semapv:UnspecifiedMatching OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching -OMIM:104300 alzheimer disease, familial, 1 skos:exactMatch orphanet.ordo:1020 semapv:UnspecifiedMatching +OMIM:104310 alzheimer disease 2 skos:exactMatch Orphanet:1020 semapv:UnspecifiedMatching OMIM:104310 alzheimer disease 2 skos:exactMatch UMLS:C1863051 semapv:UnspecifiedMatching -OMIM:104310 alzheimer disease 2 skos:exactMatch orphanet.ordo:1020 semapv:UnspecifiedMatching -OMIM:104311 PSEN1 skos:exactMatch hgnc:PSEN1 semapv:UnspecifiedMatching +OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:9508 semapv:UnspecifiedMatching +OMIM:104311 PSEN1 skos:exactMatch hgnc.symbol:PSEN1 semapv:UnspecifiedMatching OMIM:104311 PSEN1 skos:exactMatch ncbigene:5663 semapv:UnspecifiedMatching -OMIM:104610 ABP1 skos:exactMatch hgnc:AOC1 semapv:UnspecifiedMatching +OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:80 semapv:UnspecifiedMatching +OMIM:104610 ABP1 skos:exactMatch hgnc.symbol:AOC1 semapv:UnspecifiedMatching OMIM:104610 ABP1 skos:exactMatch ncbigene:26 semapv:UnspecifiedMatching -OMIM:104613 CCT6A skos:exactMatch hgnc:CCT6A semapv:UnspecifiedMatching +OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:1620 semapv:UnspecifiedMatching +OMIM:104613 CCT6A skos:exactMatch hgnc.symbol:CCT6A semapv:UnspecifiedMatching OMIM:104613 CCT6A skos:exactMatch ncbigene:908 semapv:UnspecifiedMatching -OMIM:104614 SLC3A1 skos:exactMatch hgnc:SLC3A1 semapv:UnspecifiedMatching +OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:11025 semapv:UnspecifiedMatching +OMIM:104614 SLC3A1 skos:exactMatch hgnc.symbol:SLC3A1 semapv:UnspecifiedMatching OMIM:104614 SLC3A1 skos:exactMatch ncbigene:6519 semapv:UnspecifiedMatching -OMIM:104615 SLC7A1 skos:exactMatch hgnc:SLC7A1 semapv:UnspecifiedMatching +OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:11057 semapv:UnspecifiedMatching +OMIM:104615 SLC7A1 skos:exactMatch hgnc.symbol:SLC7A1 semapv:UnspecifiedMatching OMIM:104615 SLC7A1 skos:exactMatch ncbigene:6541 semapv:UnspecifiedMatching -OMIM:104620 ACY1 skos:exactMatch hgnc:ACY1 semapv:UnspecifiedMatching +OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:177 semapv:UnspecifiedMatching +OMIM:104620 ACY1 skos:exactMatch hgnc.symbol:ACY1 semapv:UnspecifiedMatching OMIM:104620 ACY1 skos:exactMatch ncbigene:95 semapv:UnspecifiedMatching -OMIM:104640 AREG skos:exactMatch hgnc:AREG semapv:UnspecifiedMatching +OMIM:104640 AREG skos:exactMatch hgnc.symbol:651 semapv:UnspecifiedMatching +OMIM:104640 AREG skos:exactMatch hgnc.symbol:AREG semapv:UnspecifiedMatching OMIM:104640 AREG skos:exactMatch ncbigene:374 semapv:UnspecifiedMatching -OMIM:104650 AMY2A skos:exactMatch hgnc:AMY2A semapv:UnspecifiedMatching +OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:477 semapv:UnspecifiedMatching +OMIM:104650 AMY2A skos:exactMatch hgnc.symbol:AMY2A semapv:UnspecifiedMatching OMIM:104650 AMY2A skos:exactMatch ncbigene:279 semapv:UnspecifiedMatching -OMIM:104660 AMY2B skos:exactMatch hgnc:AMY2B semapv:UnspecifiedMatching +OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:478 semapv:UnspecifiedMatching +OMIM:104660 AMY2B skos:exactMatch hgnc.symbol:AMY2B semapv:UnspecifiedMatching OMIM:104660 AMY2B skos:exactMatch ncbigene:280 semapv:UnspecifiedMatching -OMIM:104700 AMY1A skos:exactMatch hgnc:AMY1A semapv:UnspecifiedMatching +OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:474 semapv:UnspecifiedMatching +OMIM:104700 AMY1A skos:exactMatch hgnc.symbol:AMY1A semapv:UnspecifiedMatching OMIM:104700 AMY1A skos:exactMatch ncbigene:276 semapv:UnspecifiedMatching -OMIM:104701 AMY1B skos:exactMatch hgnc:AMY1B semapv:UnspecifiedMatching +OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:475 semapv:UnspecifiedMatching +OMIM:104701 AMY1B skos:exactMatch hgnc.symbol:AMY1B semapv:UnspecifiedMatching OMIM:104701 AMY1B skos:exactMatch ncbigene:277 semapv:UnspecifiedMatching -OMIM:104702 AMY1C skos:exactMatch hgnc:AMY1C semapv:UnspecifiedMatching +OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:476 semapv:UnspecifiedMatching +OMIM:104702 AMY1C skos:exactMatch hgnc.symbol:AMY1C semapv:UnspecifiedMatching OMIM:104702 AMY1C skos:exactMatch ncbigene:278 semapv:UnspecifiedMatching -OMIM:104750 SAA1 skos:exactMatch hgnc:SAA1 semapv:UnspecifiedMatching +OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:10513 semapv:UnspecifiedMatching +OMIM:104750 SAA1 skos:exactMatch hgnc.symbol:SAA1 semapv:UnspecifiedMatching OMIM:104750 SAA1 skos:exactMatch ncbigene:6288 semapv:UnspecifiedMatching -OMIM:104751 SAA2 skos:exactMatch hgnc:SAA2 semapv:UnspecifiedMatching +OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:10514 semapv:UnspecifiedMatching +OMIM:104751 SAA2 skos:exactMatch hgnc.symbol:SAA2 semapv:UnspecifiedMatching OMIM:104751 SAA2 skos:exactMatch ncbigene:6289 semapv:UnspecifiedMatching -OMIM:104752 SAA4 skos:exactMatch hgnc:SAA4 semapv:UnspecifiedMatching +OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:10516 semapv:UnspecifiedMatching +OMIM:104752 SAA4 skos:exactMatch hgnc.symbol:SAA4 semapv:UnspecifiedMatching OMIM:104752 SAA4 skos:exactMatch ncbigene:6291 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C1364818 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C1863052 semapv:UnspecifiedMatching @@ -298,91 +411,120 @@ OMIM:104760 APP skos:exactMatch UMLS:C3888309 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C4015784 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C4015785 semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch UMLS:C4015786 semapv:UnspecifiedMatching -OMIM:104760 APP skos:exactMatch hgnc:APP semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch hgnc.symbol:620 semapv:UnspecifiedMatching +OMIM:104760 APP skos:exactMatch hgnc.symbol:APP semapv:UnspecifiedMatching OMIM:104760 APP skos:exactMatch ncbigene:351 semapv:UnspecifiedMatching -OMIM:104770 APCS skos:exactMatch hgnc:APCS semapv:UnspecifiedMatching +OMIM:104770 APCS skos:exactMatch hgnc.symbol:584 semapv:UnspecifiedMatching +OMIM:104770 APCS skos:exactMatch hgnc.symbol:APCS semapv:UnspecifiedMatching OMIM:104770 APCS skos:exactMatch ncbigene:325 semapv:UnspecifiedMatching -OMIM:104775 APLP1 skos:exactMatch hgnc:APLP1 semapv:UnspecifiedMatching +OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:597 semapv:UnspecifiedMatching +OMIM:104775 APLP1 skos:exactMatch hgnc.symbol:APLP1 semapv:UnspecifiedMatching OMIM:104775 APLP1 skos:exactMatch ncbigene:333 semapv:UnspecifiedMatching -OMIM:104776 APLP2 skos:exactMatch hgnc:APLP2 semapv:UnspecifiedMatching +OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:598 semapv:UnspecifiedMatching +OMIM:104776 APLP2 skos:exactMatch hgnc.symbol:APLP2 semapv:UnspecifiedMatching OMIM:104776 APLP2 skos:exactMatch ncbigene:334 semapv:UnspecifiedMatching +OMIM:105120 amyloidosis, finnish iia skos:exactMatch Orphanet:85448 semapv:UnspecifiedMatching OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C0936273 semapv:UnspecifiedMatching OMIM:105120 amyloidosis, finnish iia skos:exactMatch UMLS:C1622345 semapv:UnspecifiedMatching -OMIM:105120 amyloidosis, finnish iia skos:exactMatch orphanet.ordo:85448 semapv:UnspecifiedMatching +OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching -OMIM:105400 amyotrophic lateral sclerosis 1 skos:exactMatch orphanet.ordo:803 semapv:UnspecifiedMatching +OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching -OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch orphanet.ordo:275872 semapv:UnspecifiedMatching -OMIM:105590 ALK skos:exactMatch hgnc:ALK semapv:UnspecifiedMatching +OMIM:105590 ALK skos:exactMatch hgnc.symbol:427 semapv:UnspecifiedMatching +OMIM:105590 ALK skos:exactMatch hgnc.symbol:ALK semapv:UnspecifiedMatching OMIM:105590 ALK skos:exactMatch ncbigene:238 semapv:UnspecifiedMatching +OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching -OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch orphanet.ordo:231160 semapv:UnspecifiedMatching -OMIM:105850 ANG skos:exactMatch hgnc:ANG semapv:UnspecifiedMatching +OMIM:105850 ANG skos:exactMatch hgnc.symbol:483 semapv:UnspecifiedMatching +OMIM:105850 ANG skos:exactMatch hgnc.symbol:ANG semapv:UnspecifiedMatching OMIM:105850 ANG skos:exactMatch ncbigene:283 semapv:UnspecifiedMatching -OMIM:106150 AGT skos:exactMatch hgnc:AGT semapv:UnspecifiedMatching +OMIM:106150 AGT skos:exactMatch hgnc.symbol:333 semapv:UnspecifiedMatching +OMIM:106150 AGT skos:exactMatch hgnc.symbol:AGT semapv:UnspecifiedMatching OMIM:106150 AGT skos:exactMatch ncbigene:183 semapv:UnspecifiedMatching OMIM:106165 AGTR1 skos:exactMatch UMLS:C0266313 semapv:UnspecifiedMatching OMIM:106165 AGTR1 skos:exactMatch UMLS:C1439284 semapv:UnspecifiedMatching OMIM:106165 AGTR1 skos:exactMatch UMLS:C3837652 semapv:UnspecifiedMatching -OMIM:106165 AGTR1 skos:exactMatch hgnc:AGTR1 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:336 semapv:UnspecifiedMatching +OMIM:106165 AGTR1 skos:exactMatch hgnc.symbol:AGTR1 semapv:UnspecifiedMatching OMIM:106165 AGTR1 skos:exactMatch ncbigene:185 semapv:UnspecifiedMatching -OMIM:106180 ACE skos:exactMatch hgnc:ACE semapv:UnspecifiedMatching +OMIM:106180 ACE skos:exactMatch hgnc.symbol:2707 semapv:UnspecifiedMatching +OMIM:106180 ACE skos:exactMatch hgnc.symbol:ACE semapv:UnspecifiedMatching OMIM:106180 ACE skos:exactMatch ncbigene:1636 semapv:UnspecifiedMatching +OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch Orphanet:468666 semapv:UnspecifiedMatching OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch UMLS:C1862871 semapv:UnspecifiedMatching -OMIM:106190 anhidrosis, isolated, with normal sweat glands skos:exactMatch orphanet.ordo:468666 semapv:UnspecifiedMatching -OMIM:106195 SLC4A3 skos:exactMatch hgnc:SLC4A3 semapv:UnspecifiedMatching +OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:11029 semapv:UnspecifiedMatching +OMIM:106195 SLC4A3 skos:exactMatch hgnc.symbol:SLC4A3 semapv:UnspecifiedMatching OMIM:106195 SLC4A3 skos:exactMatch ncbigene:6508 semapv:UnspecifiedMatching +OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching -OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch orphanet.ordo:1071 semapv:UnspecifiedMatching OMIM:106300 spondyloarthropathy, susceptibility to, 1 skos:exactMatch UMLS:C1862852 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch UMLS:C1412403 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch UMLS:C1833154 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch UMLS:C1970119 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:106410 ANK2 skos:exactMatch hgnc:ANK2 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:493 semapv:UnspecifiedMatching +OMIM:106410 ANK2 skos:exactMatch hgnc.symbol:ANK2 semapv:UnspecifiedMatching OMIM:106410 ANK2 skos:exactMatch ncbigene:287 semapv:UnspecifiedMatching -OMIM:106490 ANXA3 skos:exactMatch hgnc:ANXA3 semapv:UnspecifiedMatching +OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:541 semapv:UnspecifiedMatching +OMIM:106490 ANXA3 skos:exactMatch hgnc.symbol:ANXA3 semapv:UnspecifiedMatching OMIM:106490 ANXA3 skos:exactMatch ncbigene:306 semapv:UnspecifiedMatching -OMIM:106491 ANXA4 skos:exactMatch hgnc:ANXA4 semapv:UnspecifiedMatching +OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:542 semapv:UnspecifiedMatching +OMIM:106491 ANXA4 skos:exactMatch hgnc.symbol:ANXA4 semapv:UnspecifiedMatching OMIM:106491 ANXA4 skos:exactMatch ncbigene:307 semapv:UnspecifiedMatching +OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch Orphanet:1487 semapv:UnspecifiedMatching OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch UMLS:C1862841 semapv:UnspecifiedMatching -OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges skos:exactMatch orphanet.ordo:1487 semapv:UnspecifiedMatching OMIM:107260 antigen msk41 identified by monoclonal antibody e3 skos:exactMatch UMLS:C1862836 semapv:UnspecifiedMatching OMIM:107265 CD19 skos:exactMatch UMLS:C1413206 semapv:UnspecifiedMatching OMIM:107265 CD19 skos:exactMatch UMLS:C3150738 semapv:UnspecifiedMatching -OMIM:107265 CD19 skos:exactMatch hgnc:CD19 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch hgnc.symbol:1633 semapv:UnspecifiedMatching +OMIM:107265 CD19 skos:exactMatch hgnc.symbol:CD19 semapv:UnspecifiedMatching OMIM:107265 CD19 skos:exactMatch ncbigene:930 semapv:UnspecifiedMatching -OMIM:107266 CD22 skos:exactMatch hgnc:CD22 semapv:UnspecifiedMatching +OMIM:107266 CD22 skos:exactMatch hgnc.symbol:1643 semapv:UnspecifiedMatching +OMIM:107266 CD22 skos:exactMatch hgnc.symbol:CD22 semapv:UnspecifiedMatching OMIM:107266 CD22 skos:exactMatch ncbigene:933 semapv:UnspecifiedMatching -OMIM:107269 CD44 skos:exactMatch hgnc:CD44 semapv:UnspecifiedMatching +OMIM:107269 CD44 skos:exactMatch hgnc.symbol:1681 semapv:UnspecifiedMatching +OMIM:107269 CD44 skos:exactMatch hgnc.symbol:CD44 semapv:UnspecifiedMatching OMIM:107269 CD44 skos:exactMatch ncbigene:960 semapv:UnspecifiedMatching -OMIM:107270 CD38 skos:exactMatch hgnc:CD38 semapv:UnspecifiedMatching +OMIM:107270 CD38 skos:exactMatch hgnc.symbol:1667 semapv:UnspecifiedMatching +OMIM:107270 CD38 skos:exactMatch hgnc.symbol:CD38 semapv:UnspecifiedMatching OMIM:107270 CD38 skos:exactMatch ncbigene:952 semapv:UnspecifiedMatching -OMIM:107271 CD59 skos:exactMatch hgnc:CD59 semapv:UnspecifiedMatching +OMIM:107271 CD59 skos:exactMatch hgnc.symbol:1689 semapv:UnspecifiedMatching +OMIM:107271 CD59 skos:exactMatch hgnc.symbol:CD59 semapv:UnspecifiedMatching OMIM:107271 CD59 skos:exactMatch ncbigene:966 semapv:UnspecifiedMatching -OMIM:107272 CD72 skos:exactMatch hgnc:CD72 semapv:UnspecifiedMatching +OMIM:107272 CD72 skos:exactMatch hgnc.symbol:1696 semapv:UnspecifiedMatching +OMIM:107272 CD72 skos:exactMatch hgnc.symbol:CD72 semapv:UnspecifiedMatching OMIM:107272 CD72 skos:exactMatch ncbigene:971 semapv:UnspecifiedMatching -OMIM:107273 CD69 skos:exactMatch hgnc:CD69 semapv:UnspecifiedMatching +OMIM:107273 CD69 skos:exactMatch hgnc.symbol:1694 semapv:UnspecifiedMatching +OMIM:107273 CD69 skos:exactMatch hgnc.symbol:CD69 semapv:UnspecifiedMatching OMIM:107273 CD69 skos:exactMatch ncbigene:969 semapv:UnspecifiedMatching -OMIM:107280 SERPINA3 skos:exactMatch hgnc:SERPINA3 semapv:UnspecifiedMatching +OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:16 semapv:UnspecifiedMatching +OMIM:107280 SERPINA3 skos:exactMatch hgnc.symbol:SERPINA3 semapv:UnspecifiedMatching OMIM:107280 SERPINA3 skos:exactMatch ncbigene:12 semapv:UnspecifiedMatching -OMIM:107285 SLPI skos:exactMatch hgnc:SLPI semapv:UnspecifiedMatching +OMIM:107285 SLPI skos:exactMatch hgnc.symbol:11092 semapv:UnspecifiedMatching +OMIM:107285 SLPI skos:exactMatch hgnc.symbol:SLPI semapv:UnspecifiedMatching OMIM:107285 SLPI skos:exactMatch ncbigene:6590 semapv:UnspecifiedMatching -OMIM:107300 SERPINC1 skos:exactMatch hgnc:SERPINC1 semapv:UnspecifiedMatching +OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:775 semapv:UnspecifiedMatching +OMIM:107300 SERPINC1 skos:exactMatch hgnc.symbol:SERPINC1 semapv:UnspecifiedMatching OMIM:107300 SERPINC1 skos:exactMatch ncbigene:462 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch UMLS:C1420232 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching -OMIM:107310 SLC9A1 skos:exactMatch hgnc:SLC9A1 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:11071 semapv:UnspecifiedMatching +OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:SLC9A1 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch ncbigene:6548 semapv:UnspecifiedMatching -OMIM:107323 ALDH7A1 skos:exactMatch hgnc:ALDH7A1 semapv:UnspecifiedMatching +OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:877 semapv:UnspecifiedMatching +OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:ALDH7A1 semapv:UnspecifiedMatching OMIM:107323 ALDH7A1 skos:exactMatch ncbigene:501 semapv:UnspecifiedMatching -OMIM:107325 POLR1G skos:exactMatch hgnc:POLR1G semapv:UnspecifiedMatching +OMIM:107325 POLR1G skos:exactMatch hgnc.symbol:24219 semapv:UnspecifiedMatching +OMIM:107325 POLR1G skos:exactMatch hgnc.symbol:POLR1G semapv:UnspecifiedMatching OMIM:107325 POLR1G skos:exactMatch ncbigene:10849 semapv:UnspecifiedMatching -OMIM:107400 SERPINA1 skos:exactMatch hgnc:SERPINA1 semapv:UnspecifiedMatching +OMIM:107400 SERPINA1 skos:exactMatch hgnc.symbol:8941 semapv:UnspecifiedMatching +OMIM:107400 SERPINA1 skos:exactMatch hgnc.symbol:SERPINA1 semapv:UnspecifiedMatching OMIM:107400 SERPINA1 skos:exactMatch ncbigene:5265 semapv:UnspecifiedMatching -OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc:SERPINA2 semapv:UnspecifiedMatching -OMIM:107450 IFNAR1 skos:exactMatch hgnc:IFNAR1 semapv:UnspecifiedMatching +OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc.symbol:8985 semapv:UnspecifiedMatching +OMIM:107410 serpin peptidase inhibitor, clade a, member 2, pseudogene skos:exactMatch hgnc.symbol:SERPINA2 semapv:UnspecifiedMatching +OMIM:107450 IFNAR1 skos:exactMatch hgnc.symbol:5432 semapv:UnspecifiedMatching +OMIM:107450 IFNAR1 skos:exactMatch hgnc.symbol:IFNAR1 semapv:UnspecifiedMatching OMIM:107450 IFNAR1 skos:exactMatch ncbigene:3454 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1334083 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching @@ -391,11 +533,14 @@ OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching -OMIM:107470 IFNGR1 skos:exactMatch hgnc:IFNGR1 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:5439 semapv:UnspecifiedMatching +OMIM:107470 IFNGR1 skos:exactMatch hgnc.symbol:IFNGR1 semapv:UnspecifiedMatching OMIM:107470 IFNGR1 skos:exactMatch ncbigene:3459 semapv:UnspecifiedMatching -OMIM:107580 TFAP2A skos:exactMatch hgnc:TFAP2A semapv:UnspecifiedMatching +OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:11742 semapv:UnspecifiedMatching +OMIM:107580 TFAP2A skos:exactMatch hgnc.symbol:TFAP2A semapv:UnspecifiedMatching OMIM:107580 TFAP2A skos:exactMatch ncbigene:7020 semapv:UnspecifiedMatching -OMIM:107670 APOA2 skos:exactMatch hgnc:APOA2 semapv:UnspecifiedMatching +OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:601 semapv:UnspecifiedMatching +OMIM:107670 APOA2 skos:exactMatch hgnc.symbol:APOA2 semapv:UnspecifiedMatching OMIM:107670 APOA2 skos:exactMatch ncbigene:336 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C0268389 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C0342608 semapv:UnspecifiedMatching @@ -418,17 +563,23 @@ OMIM:107680 APOA1 skos:exactMatch UMLS:C4017420 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C4017713 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C5231502 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch UMLS:C5231503 semapv:UnspecifiedMatching -OMIM:107680 APOA1 skos:exactMatch hgnc:APOA1 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:600 semapv:UnspecifiedMatching +OMIM:107680 APOA1 skos:exactMatch hgnc.symbol:APOA1 semapv:UnspecifiedMatching OMIM:107680 APOA1 skos:exactMatch ncbigene:335 semapv:UnspecifiedMatching -OMIM:107690 APOA4 skos:exactMatch hgnc:APOA4 semapv:UnspecifiedMatching +OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:602 semapv:UnspecifiedMatching +OMIM:107690 APOA4 skos:exactMatch hgnc.symbol:APOA4 semapv:UnspecifiedMatching OMIM:107690 APOA4 skos:exactMatch ncbigene:337 semapv:UnspecifiedMatching -OMIM:107710 APOC1 skos:exactMatch hgnc:APOC1 semapv:UnspecifiedMatching +OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:607 semapv:UnspecifiedMatching +OMIM:107710 APOC1 skos:exactMatch hgnc.symbol:APOC1 semapv:UnspecifiedMatching OMIM:107710 APOC1 skos:exactMatch ncbigene:341 semapv:UnspecifiedMatching -OMIM:107720 APOC3 skos:exactMatch hgnc:APOC3 semapv:UnspecifiedMatching +OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:610 semapv:UnspecifiedMatching +OMIM:107720 APOC3 skos:exactMatch hgnc.symbol:APOC3 semapv:UnspecifiedMatching OMIM:107720 APOC3 skos:exactMatch ncbigene:345 semapv:UnspecifiedMatching -OMIM:107730 APOB skos:exactMatch hgnc:APOB semapv:UnspecifiedMatching +OMIM:107730 APOB skos:exactMatch hgnc.symbol:603 semapv:UnspecifiedMatching +OMIM:107730 APOB skos:exactMatch hgnc.symbol:APOB semapv:UnspecifiedMatching OMIM:107730 APOB skos:exactMatch ncbigene:338 semapv:UnspecifiedMatching -OMIM:107740 APOD skos:exactMatch hgnc:APOD semapv:UnspecifiedMatching +OMIM:107740 APOD skos:exactMatch hgnc.symbol:612 semapv:UnspecifiedMatching +OMIM:107740 APOD skos:exactMatch hgnc.symbol:APOD semapv:UnspecifiedMatching OMIM:107740 APOD skos:exactMatch ncbigene:347 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C0036489 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C1412481 semapv:UnspecifiedMatching @@ -464,125 +615,165 @@ OMIM:107741 APOE skos:exactMatch UMLS:C5231510 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C5231555 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C5231556 semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch UMLS:C5231557 semapv:UnspecifiedMatching -OMIM:107741 APOE skos:exactMatch hgnc:APOE semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch hgnc.symbol:613 semapv:UnspecifiedMatching +OMIM:107741 APOE skos:exactMatch hgnc.symbol:APOE semapv:UnspecifiedMatching OMIM:107741 APOE skos:exactMatch ncbigene:348 semapv:UnspecifiedMatching -OMIM:107748 APEX1 skos:exactMatch hgnc:APEX1 semapv:UnspecifiedMatching +OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:587 semapv:UnspecifiedMatching +OMIM:107748 APEX1 skos:exactMatch hgnc.symbol:APEX1 semapv:UnspecifiedMatching OMIM:107748 APEX1 skos:exactMatch ncbigene:328 semapv:UnspecifiedMatching OMIM:107750 arbitrary restriction polymorphism 1 skos:exactMatch UMLS:C1862555 semapv:UnspecifiedMatching -OMIM:107760 APOF skos:exactMatch hgnc:APOF semapv:UnspecifiedMatching +OMIM:107760 APOF skos:exactMatch hgnc.symbol:615 semapv:UnspecifiedMatching +OMIM:107760 APOF skos:exactMatch hgnc.symbol:APOF semapv:UnspecifiedMatching OMIM:107760 APOF skos:exactMatch ncbigene:319 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch UMLS:C0263428 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch UMLS:C1416912 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:107770 LRP1 skos:exactMatch hgnc:LRP1 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:6692 semapv:UnspecifiedMatching +OMIM:107770 LRP1 skos:exactMatch hgnc.symbol:LRP1 semapv:UnspecifiedMatching OMIM:107770 LRP1 skos:exactMatch ncbigene:4035 semapv:UnspecifiedMatching OMIM:107773 NR2F2 skos:exactMatch UMLS:C1417834 semapv:UnspecifiedMatching OMIM:107773 NR2F2 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching OMIM:107773 NR2F2 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching -OMIM:107773 NR2F2 skos:exactMatch hgnc:NR2F2 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:7976 semapv:UnspecifiedMatching +OMIM:107773 NR2F2 skos:exactMatch hgnc.symbol:NR2F2 semapv:UnspecifiedMatching OMIM:107773 NR2F2 skos:exactMatch ncbigene:7026 semapv:UnspecifiedMatching -OMIM:107776 AQP1 skos:exactMatch hgnc:AQP1 semapv:UnspecifiedMatching +OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:633 semapv:UnspecifiedMatching +OMIM:107776 AQP1 skos:exactMatch hgnc.symbol:AQP1 semapv:UnspecifiedMatching OMIM:107776 AQP1 skos:exactMatch ncbigene:358 semapv:UnspecifiedMatching -OMIM:107777 AQP2 skos:exactMatch hgnc:AQP2 semapv:UnspecifiedMatching +OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:634 semapv:UnspecifiedMatching +OMIM:107777 AQP2 skos:exactMatch hgnc.symbol:AQP2 semapv:UnspecifiedMatching OMIM:107777 AQP2 skos:exactMatch ncbigene:359 semapv:UnspecifiedMatching -OMIM:107820 RARS1 skos:exactMatch hgnc:RARS1 semapv:UnspecifiedMatching +OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:9870 semapv:UnspecifiedMatching +OMIM:107820 RARS1 skos:exactMatch hgnc.symbol:RARS1 semapv:UnspecifiedMatching OMIM:107820 RARS1 skos:exactMatch ncbigene:5917 semapv:UnspecifiedMatching -OMIM:107830 ARG2 skos:exactMatch hgnc:ARG2 semapv:UnspecifiedMatching +OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:664 semapv:UnspecifiedMatching +OMIM:107830 ARG2 skos:exactMatch hgnc.symbol:ARG2 semapv:UnspecifiedMatching OMIM:107830 ARG2 skos:exactMatch ncbigene:384 semapv:UnspecifiedMatching -OMIM:107910 CYP19A1 skos:exactMatch hgnc:CYP19A1 semapv:UnspecifiedMatching +OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:2594 semapv:UnspecifiedMatching +OMIM:107910 CYP19A1 skos:exactMatch hgnc.symbol:CYP19A1 semapv:UnspecifiedMatching OMIM:107910 CYP19A1 skos:exactMatch ncbigene:1588 semapv:UnspecifiedMatching OMIM:107930 DDC skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching OMIM:107930 DDC skos:exactMatch UMLS:C1413943 semapv:UnspecifiedMatching -OMIM:107930 DDC skos:exactMatch hgnc:DDC semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch hgnc.symbol:2719 semapv:UnspecifiedMatching +OMIM:107930 DDC skos:exactMatch hgnc.symbol:DDC semapv:UnspecifiedMatching OMIM:107930 DDC skos:exactMatch ncbigene:1644 semapv:UnspecifiedMatching OMIM:107940 ARRB1 skos:exactMatch UMLS:C1332117 semapv:UnspecifiedMatching -OMIM:107940 ARRB1 skos:exactMatch hgnc:ARRB1 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:711 semapv:UnspecifiedMatching +OMIM:107940 ARRB1 skos:exactMatch hgnc.symbol:ARRB1 semapv:UnspecifiedMatching OMIM:107940 ARRB1 skos:exactMatch ncbigene:408 semapv:UnspecifiedMatching -OMIM:107941 ARRB2 skos:exactMatch hgnc:ARRB2 semapv:UnspecifiedMatching +OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:712 semapv:UnspecifiedMatching +OMIM:107941 ARRB2 skos:exactMatch hgnc.symbol:ARRB2 semapv:UnspecifiedMatching OMIM:107941 ARRB2 skos:exactMatch ncbigene:409 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293888 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293899 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching +OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch Orphanet:3403 semapv:UnspecifiedMatching OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch UMLS:C1862511 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch orphanet.ordo:217656 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch orphanet.ordo:293888 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch orphanet.ordo:293899 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch orphanet.ordo:293910 semapv:UnspecifiedMatching -OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 skos:exactMatch orphanet.ordo:3403 semapv:UnspecifiedMatching +OMIM:108010 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 semapv:UnspecifiedMatching OMIM:108010 arteriovenous malformations of the brain skos:exactMatch UMLS:C0917804 semapv:UnspecifiedMatching -OMIM:108010 arteriovenous malformations of the brain skos:exactMatch orphanet.ordo:46724 semapv:UnspecifiedMatching OMIM:108100 arthritis, sacroiliac skos:exactMatch UMLS:C0748473 semapv:UnspecifiedMatching +OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C0220662 semapv:UnspecifiedMatching OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch UMLS:C5193002 semapv:UnspecifiedMatching -OMIM:108120 arthrogryposis, distal, iia 1a skos:exactMatch orphanet.ordo:1146 semapv:UnspecifiedMatching -OMIM:108330 CYP1A1 skos:exactMatch hgnc:CYP1A1 semapv:UnspecifiedMatching +OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:2595 semapv:UnspecifiedMatching +OMIM:108330 CYP1A1 skos:exactMatch hgnc.symbol:CYP1A1 semapv:UnspecifiedMatching OMIM:108330 CYP1A1 skos:exactMatch ncbigene:1543 semapv:UnspecifiedMatching -OMIM:108345 NAT1 skos:exactMatch hgnc:NAT1 semapv:UnspecifiedMatching +OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:7645 semapv:UnspecifiedMatching +OMIM:108345 NAT1 skos:exactMatch hgnc.symbol:NAT1 semapv:UnspecifiedMatching OMIM:108345 NAT1 skos:exactMatch ncbigene:9 semapv:UnspecifiedMatching -OMIM:108355 GRB2 skos:exactMatch hgnc:GRB2 semapv:UnspecifiedMatching +OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:4566 semapv:UnspecifiedMatching +OMIM:108355 GRB2 skos:exactMatch hgnc.symbol:GRB2 semapv:UnspecifiedMatching OMIM:108355 GRB2 skos:exactMatch ncbigene:2885 semapv:UnspecifiedMatching -OMIM:108360 ASGR1 skos:exactMatch hgnc:ASGR1 semapv:UnspecifiedMatching +OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:742 semapv:UnspecifiedMatching +OMIM:108360 ASGR1 skos:exactMatch hgnc.symbol:ASGR1 semapv:UnspecifiedMatching OMIM:108360 ASGR1 skos:exactMatch ncbigene:432 semapv:UnspecifiedMatching -OMIM:108361 ASGR2 skos:exactMatch hgnc:ASGR2 semapv:UnspecifiedMatching +OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:743 semapv:UnspecifiedMatching +OMIM:108361 ASGR2 skos:exactMatch hgnc.symbol:ASGR2 semapv:UnspecifiedMatching OMIM:108361 ASGR2 skos:exactMatch ncbigene:433 semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch UMLS:C1412588 semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching -OMIM:108370 ASNS skos:exactMatch hgnc:ASNS semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch hgnc.symbol:753 semapv:UnspecifiedMatching +OMIM:108370 ASNS skos:exactMatch hgnc.symbol:ASNS semapv:UnspecifiedMatching OMIM:108370 ASNS skos:exactMatch ncbigene:440 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch UMLS:C1384524 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching -OMIM:108410 NARS1 skos:exactMatch hgnc:NARS1 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:7643 semapv:UnspecifiedMatching +OMIM:108410 NARS1 skos:exactMatch hgnc.symbol:NARS1 semapv:UnspecifiedMatching OMIM:108410 NARS1 skos:exactMatch ncbigene:4677 semapv:UnspecifiedMatching +OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch Orphanet:1190 semapv:UnspecifiedMatching OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch UMLS:C0265283 semapv:UnspecifiedMatching -OMIM:108720 atelosteogenesis, iia 1 skos:exactMatch orphanet.ordo:1190 semapv:UnspecifiedMatching +OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching -OMIM:108721 atelosteogenesis, iia 3 skos:exactMatch orphanet.ordo:56305 semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch UMLS:C1412125 semapv:UnspecifiedMatching -OMIM:108728 ACLY skos:exactMatch hgnc:ACLY semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch hgnc.symbol:115 semapv:UnspecifiedMatching +OMIM:108728 ACLY skos:exactMatch hgnc.symbol:ACLY semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch ncbigene:47 semapv:UnspecifiedMatching OMIM:108729 ATP5F1C skos:exactMatch UMLS:C1412656 semapv:UnspecifiedMatching -OMIM:108729 ATP5F1C skos:exactMatch hgnc:ATP5F1C semapv:UnspecifiedMatching +OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:833 semapv:UnspecifiedMatching +OMIM:108729 ATP5F1C skos:exactMatch hgnc.symbol:ATP5F1C semapv:UnspecifiedMatching OMIM:108729 ATP5F1C skos:exactMatch ncbigene:509 semapv:UnspecifiedMatching -OMIM:108730 ATP2A1 skos:exactMatch hgnc:ATP2A1 semapv:UnspecifiedMatching +OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:811 semapv:UnspecifiedMatching +OMIM:108730 ATP2A1 skos:exactMatch hgnc.symbol:ATP2A1 semapv:UnspecifiedMatching OMIM:108730 ATP2A1 skos:exactMatch ncbigene:487 semapv:UnspecifiedMatching -OMIM:108731 ATP2B1 skos:exactMatch hgnc:ATP2B1 semapv:UnspecifiedMatching +OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:814 semapv:UnspecifiedMatching +OMIM:108731 ATP2B1 skos:exactMatch hgnc.symbol:ATP2B1 semapv:UnspecifiedMatching OMIM:108731 ATP2B1 skos:exactMatch ncbigene:490 semapv:UnspecifiedMatching -OMIM:108732 ATP2B4 skos:exactMatch hgnc:ATP2B4 semapv:UnspecifiedMatching +OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:817 semapv:UnspecifiedMatching +OMIM:108732 ATP2B4 skos:exactMatch hgnc.symbol:ATP2B4 semapv:UnspecifiedMatching OMIM:108732 ATP2B4 skos:exactMatch ncbigene:493 semapv:UnspecifiedMatching -OMIM:108733 ATP2B2 skos:exactMatch hgnc:ATP2B2 semapv:UnspecifiedMatching +OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:815 semapv:UnspecifiedMatching +OMIM:108733 ATP2B2 skos:exactMatch hgnc.symbol:ATP2B2 semapv:UnspecifiedMatching OMIM:108733 ATP2B2 skos:exactMatch ncbigene:491 semapv:UnspecifiedMatching -OMIM:108740 ATP2A2 skos:exactMatch hgnc:ATP2A2 semapv:UnspecifiedMatching +OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:812 semapv:UnspecifiedMatching +OMIM:108740 ATP2A2 skos:exactMatch hgnc.symbol:ATP2A2 semapv:UnspecifiedMatching OMIM:108740 ATP2A2 skos:exactMatch ncbigene:488 semapv:UnspecifiedMatching -OMIM:108745 ATP6V0C skos:exactMatch hgnc:ATP6V0C semapv:UnspecifiedMatching +OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:855 semapv:UnspecifiedMatching +OMIM:108745 ATP6V0C skos:exactMatch hgnc.symbol:ATP6V0C semapv:UnspecifiedMatching OMIM:108745 ATP6V0C skos:exactMatch ncbigene:527 semapv:UnspecifiedMatching OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C1412677 semapv:UnspecifiedMatching OMIM:108746 ATP6V1E1 skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching -OMIM:108746 ATP6V1E1 skos:exactMatch hgnc:ATP6V1E1 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:857 semapv:UnspecifiedMatching +OMIM:108746 ATP6V1E1 skos:exactMatch hgnc.symbol:ATP6V1E1 semapv:UnspecifiedMatching OMIM:108746 ATP6V1E1 skos:exactMatch ncbigene:529 semapv:UnspecifiedMatching -OMIM:108780 NPPA skos:exactMatch hgnc:NPPA semapv:UnspecifiedMatching +OMIM:108780 NPPA skos:exactMatch hgnc.symbol:7939 semapv:UnspecifiedMatching +OMIM:108780 NPPA skos:exactMatch hgnc.symbol:NPPA semapv:UnspecifiedMatching OMIM:108780 NPPA skos:exactMatch ncbigene:4878 semapv:UnspecifiedMatching -OMIM:108960 NPR1 skos:exactMatch hgnc:NPR1 semapv:UnspecifiedMatching +OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:7943 semapv:UnspecifiedMatching +OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:NPR1 semapv:UnspecifiedMatching OMIM:108960 NPR1 skos:exactMatch ncbigene:4881 semapv:UnspecifiedMatching -OMIM:108961 NPR2 skos:exactMatch hgnc:NPR2 semapv:UnspecifiedMatching +OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:7944 semapv:UnspecifiedMatching +OMIM:108961 NPR2 skos:exactMatch hgnc.symbol:NPR2 semapv:UnspecifiedMatching OMIM:108961 NPR2 skos:exactMatch ncbigene:4882 semapv:UnspecifiedMatching -OMIM:108962 NPR3 skos:exactMatch hgnc:NPR3 semapv:UnspecifiedMatching +OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:7945 semapv:UnspecifiedMatching +OMIM:108962 NPR3 skos:exactMatch hgnc.symbol:NPR3 semapv:UnspecifiedMatching OMIM:108962 NPR3 skos:exactMatch ncbigene:4883 semapv:UnspecifiedMatching +OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch Orphanet:86813 semapv:UnspecifiedMatching OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching -OMIM:108985 sveinsson chorioretinal atrophy skos:exactMatch orphanet.ordo:86813 semapv:UnspecifiedMatching OMIM:108990 attached cell antigen 28.3.7 skos:exactMatch UMLS:C1417160 semapv:UnspecifiedMatching -OMIM:109090 SSB skos:exactMatch hgnc:SSB semapv:UnspecifiedMatching +OMIM:109090 SSB skos:exactMatch hgnc.symbol:11316 semapv:UnspecifiedMatching +OMIM:109090 SSB skos:exactMatch hgnc.symbol:SSB semapv:UnspecifiedMatching OMIM:109090 SSB skos:exactMatch ncbigene:6741 semapv:UnspecifiedMatching -OMIM:109091 CALR skos:exactMatch hgnc:CALR semapv:UnspecifiedMatching +OMIM:109091 CALR skos:exactMatch hgnc.symbol:1455 semapv:UnspecifiedMatching +OMIM:109091 CALR skos:exactMatch hgnc.symbol:CALR semapv:UnspecifiedMatching OMIM:109091 CALR skos:exactMatch ncbigene:811 semapv:UnspecifiedMatching OMIM:109092 TRIM21 skos:exactMatch UMLS:C1540056 semapv:UnspecifiedMatching -OMIM:109092 TRIM21 skos:exactMatch hgnc:TRIM21 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:11312 semapv:UnspecifiedMatching +OMIM:109092 TRIM21 skos:exactMatch hgnc.symbol:TRIM21 semapv:UnspecifiedMatching OMIM:109092 TRIM21 skos:exactMatch ncbigene:6737 semapv:UnspecifiedMatching OMIM:109135 AXL skos:exactMatch UMLS:C0812237 semapv:UnspecifiedMatching -OMIM:109135 AXL skos:exactMatch hgnc:AXL semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch hgnc.symbol:905 semapv:UnspecifiedMatching +OMIM:109135 AXL skos:exactMatch hgnc.symbol:AXL semapv:UnspecifiedMatching OMIM:109135 AXL skos:exactMatch ncbigene:558 semapv:UnspecifiedMatching -OMIM:109170 LST1 skos:exactMatch hgnc:LST1 semapv:UnspecifiedMatching +OMIM:109170 LST1 skos:exactMatch hgnc.symbol:14189 semapv:UnspecifiedMatching +OMIM:109170 LST1 skos:exactMatch hgnc.symbol:LST1 semapv:UnspecifiedMatching OMIM:109170 LST1 skos:exactMatch ncbigene:7940 semapv:UnspecifiedMatching -OMIM:109190 SLC1A5 skos:exactMatch hgnc:SLC1A5 semapv:UnspecifiedMatching +OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:10943 semapv:UnspecifiedMatching +OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:SLC1A5 semapv:UnspecifiedMatching OMIM:109190 SLC1A5 skos:exactMatch ncbigene:6510 semapv:UnspecifiedMatching -OMIM:109195 BPI skos:exactMatch hgnc:BPI semapv:UnspecifiedMatching +OMIM:109195 BPI skos:exactMatch hgnc.symbol:1095 semapv:UnspecifiedMatching +OMIM:109195 BPI skos:exactMatch hgnc.symbol:BPI semapv:UnspecifiedMatching OMIM:109195 BPI skos:exactMatch ncbigene:671 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1420193 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching @@ -613,154 +804,202 @@ OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225644 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225645 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C4225646 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching -OMIM:109270 SLC4A1 skos:exactMatch hgnc:SLC4A1 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:11027 semapv:UnspecifiedMatching +OMIM:109270 SLC4A1 skos:exactMatch hgnc.symbol:SLC4A1 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch ncbigene:6521 semapv:UnspecifiedMatching -OMIM:109280 SLC4A2 skos:exactMatch hgnc:SLC4A2 semapv:UnspecifiedMatching +OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:11028 semapv:UnspecifiedMatching +OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:SLC4A2 semapv:UnspecifiedMatching OMIM:109280 SLC4A2 skos:exactMatch ncbigene:6522 semapv:UnspecifiedMatching +OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching -OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch orphanet.ordo:377 semapv:UnspecifiedMatching -OMIM:109480 BSG skos:exactMatch hgnc:BSG semapv:UnspecifiedMatching +OMIM:109480 BSG skos:exactMatch hgnc.symbol:1116 semapv:UnspecifiedMatching +OMIM:109480 BSG skos:exactMatch hgnc.symbol:BSG semapv:UnspecifiedMatching OMIM:109480 BSG skos:exactMatch ncbigene:682 semapv:UnspecifiedMatching -OMIM:109530 CD48 skos:exactMatch hgnc:CD48 semapv:UnspecifiedMatching +OMIM:109530 CD48 skos:exactMatch hgnc.symbol:1683 semapv:UnspecifiedMatching +OMIM:109530 CD48 skos:exactMatch hgnc.symbol:CD48 semapv:UnspecifiedMatching OMIM:109530 CD48 skos:exactMatch ncbigene:962 semapv:UnspecifiedMatching -OMIM:109535 CD40 skos:exactMatch hgnc:CD40 semapv:UnspecifiedMatching +OMIM:109535 CD40 skos:exactMatch hgnc.symbol:11919 semapv:UnspecifiedMatching +OMIM:109535 CD40 skos:exactMatch hgnc.symbol:CD40 semapv:UnspecifiedMatching OMIM:109535 CD40 skos:exactMatch ncbigene:958 semapv:UnspecifiedMatching -OMIM:109545 TNFRSF17 skos:exactMatch hgnc:TNFRSF17 semapv:UnspecifiedMatching +OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:11913 semapv:UnspecifiedMatching +OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:TNFRSF17 semapv:UnspecifiedMatching OMIM:109545 TNFRSF17 skos:exactMatch ncbigene:608 semapv:UnspecifiedMatching -OMIM:109560 BCL3 skos:exactMatch hgnc:BCL3 semapv:UnspecifiedMatching +OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:998 semapv:UnspecifiedMatching +OMIM:109560 BCL3 skos:exactMatch hgnc.symbol:BCL3 semapv:UnspecifiedMatching OMIM:109560 BCL3 skos:exactMatch ncbigene:602 semapv:UnspecifiedMatching -OMIM:109565 BCL6 skos:exactMatch hgnc:BCL6 semapv:UnspecifiedMatching +OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:1001 semapv:UnspecifiedMatching +OMIM:109565 BCL6 skos:exactMatch hgnc.symbol:BCL6 semapv:UnspecifiedMatching OMIM:109565 BCL6 skos:exactMatch ncbigene:604 semapv:UnspecifiedMatching OMIM:109580 BTG1 skos:exactMatch UMLS:C1439347 semapv:UnspecifiedMatching -OMIM:109580 BTG1 skos:exactMatch hgnc:BTG1 semapv:UnspecifiedMatching +OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:1130 semapv:UnspecifiedMatching +OMIM:109580 BTG1 skos:exactMatch hgnc.symbol:BTG1 semapv:UnspecifiedMatching OMIM:109580 BTG1 skos:exactMatch ncbigene:694 semapv:UnspecifiedMatching -OMIM:109610 TSPO skos:exactMatch hgnc:TSPO semapv:UnspecifiedMatching +OMIM:109610 TSPO skos:exactMatch hgnc.symbol:1158 semapv:UnspecifiedMatching +OMIM:109610 TSPO skos:exactMatch hgnc.symbol:TSPO semapv:UnspecifiedMatching OMIM:109610 TSPO skos:exactMatch ncbigene:706 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C1439273 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C1821417 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C2676080 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching -OMIM:109630 ADRB1 skos:exactMatch hgnc:ADRB1 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:285 semapv:UnspecifiedMatching +OMIM:109630 ADRB1 skos:exactMatch hgnc.symbol:ADRB1 semapv:UnspecifiedMatching OMIM:109630 ADRB1 skos:exactMatch ncbigene:153 semapv:UnspecifiedMatching -OMIM:109635 GRK2 skos:exactMatch hgnc:GRK2 semapv:UnspecifiedMatching +OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:289 semapv:UnspecifiedMatching +OMIM:109635 GRK2 skos:exactMatch hgnc.symbol:GRK2 semapv:UnspecifiedMatching OMIM:109635 GRK2 skos:exactMatch ncbigene:156 semapv:UnspecifiedMatching -OMIM:109636 ADRBK2 skos:exactMatch hgnc:GRK3 semapv:UnspecifiedMatching +OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:290 semapv:UnspecifiedMatching +OMIM:109636 ADRBK2 skos:exactMatch hgnc.symbol:GRK3 semapv:UnspecifiedMatching OMIM:109636 ADRBK2 skos:exactMatch ncbigene:157 semapv:UnspecifiedMatching OMIM:109640 beta-glycerol phosphatase skos:exactMatch UMLS:C1415192 semapv:UnspecifiedMatching -OMIM:109675 ST6GAL1 skos:exactMatch hgnc:ST6GAL1 semapv:UnspecifiedMatching +OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:10860 semapv:UnspecifiedMatching +OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:ST6GAL1 semapv:UnspecifiedMatching OMIM:109675 ST6GAL1 skos:exactMatch ncbigene:6480 semapv:UnspecifiedMatching -OMIM:109684 HSD17B1 skos:exactMatch hgnc:HSD17B1 semapv:UnspecifiedMatching +OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:5210 semapv:UnspecifiedMatching +OMIM:109684 HSD17B1 skos:exactMatch hgnc.symbol:HSD17B1 semapv:UnspecifiedMatching OMIM:109684 HSD17B1 skos:exactMatch ncbigene:3292 semapv:UnspecifiedMatching -OMIM:109685 HSD17B2 skos:exactMatch hgnc:HSD17B2 semapv:UnspecifiedMatching +OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:5211 semapv:UnspecifiedMatching +OMIM:109685 HSD17B2 skos:exactMatch hgnc.symbol:HSD17B2 semapv:UnspecifiedMatching OMIM:109685 HSD17B2 skos:exactMatch ncbigene:3294 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch UMLS:C1367657 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch UMLS:C1862282 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch UMLS:C3835585 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch UMLS:C5193154 semapv:UnspecifiedMatching -OMIM:109690 ADRB2 skos:exactMatch hgnc:ADRB2 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:286 semapv:UnspecifiedMatching +OMIM:109690 ADRB2 skos:exactMatch hgnc.symbol:ADRB2 semapv:UnspecifiedMatching OMIM:109690 ADRB2 skos:exactMatch ncbigene:154 semapv:UnspecifiedMatching -OMIM:109691 ADRB3 skos:exactMatch hgnc:ADRB3 semapv:UnspecifiedMatching +OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:288 semapv:UnspecifiedMatching +OMIM:109691 ADRB3 skos:exactMatch hgnc.symbol:ADRB3 semapv:UnspecifiedMatching OMIM:109691 ADRB3 skos:exactMatch ncbigene:155 semapv:UnspecifiedMatching -OMIM:109700 B2M skos:exactMatch hgnc:B2M semapv:UnspecifiedMatching +OMIM:109700 B2M skos:exactMatch hgnc.symbol:914 semapv:UnspecifiedMatching +OMIM:109700 B2M skos:exactMatch hgnc.symbol:B2M semapv:UnspecifiedMatching OMIM:109700 B2M skos:exactMatch ncbigene:567 semapv:UnspecifiedMatching OMIM:109710 B2MR skos:exactMatch UMLS:C1412710 semapv:UnspecifiedMatching -OMIM:109710 B2MR skos:exactMatch hgnc:B2MR semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch hgnc.symbol:915 semapv:UnspecifiedMatching +OMIM:109710 B2MR skos:exactMatch hgnc.symbol:B2MR semapv:UnspecifiedMatching OMIM:109710 B2MR skos:exactMatch ncbigene:568 semapv:UnspecifiedMatching -OMIM:109715 HSD3B1 skos:exactMatch hgnc:HSD3B1 semapv:UnspecifiedMatching +OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:5217 semapv:UnspecifiedMatching +OMIM:109715 HSD3B1 skos:exactMatch hgnc.symbol:HSD3B1 semapv:UnspecifiedMatching OMIM:109715 HSD3B1 skos:exactMatch ncbigene:3283 semapv:UnspecifiedMatching -OMIM:109750 BLVRA skos:exactMatch hgnc:BLVRA semapv:UnspecifiedMatching +OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:1062 semapv:UnspecifiedMatching +OMIM:109750 BLVRA skos:exactMatch hgnc.symbol:BLVRA semapv:UnspecifiedMatching OMIM:109750 BLVRA skos:exactMatch ncbigene:644 semapv:UnspecifiedMatching -OMIM:109760 HTR1A skos:exactMatch hgnc:HTR1A semapv:UnspecifiedMatching +OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:5286 semapv:UnspecifiedMatching +OMIM:109760 HTR1A skos:exactMatch hgnc.symbol:HTR1A semapv:UnspecifiedMatching OMIM:109760 HTR1A skos:exactMatch ncbigene:3350 semapv:UnspecifiedMatching -OMIM:109770 CEACAM1 skos:exactMatch hgnc:CEACAM1 semapv:UnspecifiedMatching +OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:1814 semapv:UnspecifiedMatching +OMIM:109770 CEACAM1 skos:exactMatch hgnc.symbol:CEACAM1 semapv:UnspecifiedMatching OMIM:109770 CEACAM1 skos:exactMatch ncbigene:634 semapv:UnspecifiedMatching OMIM:109780 bkm DNA skos:exactMatch UMLS:C1862276 semapv:UnspecifiedMatching OMIM:109800 bladder cancer skos:exactMatch UMLS:C0005684 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:126 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572354 semapv:UnspecifiedMatching +OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch Orphanet:572361 semapv:UnspecifiedMatching OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch UMLS:C0220663 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch orphanet.ordo:126 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch orphanet.ordo:572354 semapv:UnspecifiedMatching -OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus skos:exactMatch orphanet.ordo:572361 semapv:UnspecifiedMatching -OMIM:110300 ABO skos:exactMatch hgnc:ABO semapv:UnspecifiedMatching +OMIM:110300 ABO skos:exactMatch hgnc.symbol:79 semapv:UnspecifiedMatching +OMIM:110300 ABO skos:exactMatch hgnc.symbol:ABO semapv:UnspecifiedMatching OMIM:110300 ABO skos:exactMatch ncbigene:28 semapv:UnspecifiedMatching -OMIM:110600 ART4 skos:exactMatch hgnc:ART4 semapv:UnspecifiedMatching +OMIM:110600 ART4 skos:exactMatch hgnc.symbol:726 semapv:UnspecifiedMatching +OMIM:110600 ART4 skos:exactMatch hgnc.symbol:ART4 semapv:UnspecifiedMatching OMIM:110600 ART4 skos:exactMatch ncbigene:420 semapv:UnspecifiedMatching -OMIM:110750 GYPC skos:exactMatch hgnc:GYPC semapv:UnspecifiedMatching +OMIM:110750 GYPC skos:exactMatch hgnc.symbol:4704 semapv:UnspecifiedMatching +OMIM:110750 GYPC skos:exactMatch hgnc.symbol:GYPC semapv:UnspecifiedMatching OMIM:110750 GYPC skos:exactMatch ncbigene:2995 semapv:UnspecifiedMatching OMIM:111100 FUT3 skos:exactMatch UMLS:C1414864 semapv:UnspecifiedMatching OMIM:111100 FUT3 skos:exactMatch UMLS:C4015916 semapv:UnspecifiedMatching -OMIM:111100 FUT3 skos:exactMatch hgnc:FUT3 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:4014 semapv:UnspecifiedMatching +OMIM:111100 FUT3 skos:exactMatch hgnc.symbol:FUT3 semapv:UnspecifiedMatching OMIM:111100 FUT3 skos:exactMatch ncbigene:2525 semapv:UnspecifiedMatching OMIM:111300 blood group, mn skos:exactMatch UMLS:C0026327 semapv:UnspecifiedMatching OMIM:111400 blood group, p1pk system skos:exactMatch UMLS:C3549485 semapv:UnspecifiedMatching -OMIM:111680 RHD skos:exactMatch hgnc:RHD semapv:UnspecifiedMatching +OMIM:111680 RHD skos:exactMatch hgnc.symbol:10009 semapv:UnspecifiedMatching +OMIM:111680 RHD skos:exactMatch hgnc.symbol:RHD semapv:UnspecifiedMatching OMIM:111680 RHD skos:exactMatch ncbigene:6007 semapv:UnspecifiedMatching -OMIM:111700 RHCE skos:exactMatch hgnc:RHCE semapv:UnspecifiedMatching +OMIM:111700 RHCE skos:exactMatch hgnc.symbol:10008 semapv:UnspecifiedMatching +OMIM:111700 RHCE skos:exactMatch hgnc.symbol:RHCE semapv:UnspecifiedMatching OMIM:111700 RHCE skos:exactMatch ncbigene:6006 semapv:UnspecifiedMatching -OMIM:111730 B4GALNT2 skos:exactMatch hgnc:B4GALNT2 semapv:UnspecifiedMatching +OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:24136 semapv:UnspecifiedMatching +OMIM:111730 B4GALNT2 skos:exactMatch hgnc.symbol:B4GALNT2 semapv:UnspecifiedMatching OMIM:111730 B4GALNT2 skos:exactMatch ncbigene:124872 semapv:UnspecifiedMatching -OMIM:112203 CD80 skos:exactMatch hgnc:CD80 semapv:UnspecifiedMatching +OMIM:112203 CD80 skos:exactMatch hgnc.symbol:1700 semapv:UnspecifiedMatching +OMIM:112203 CD80 skos:exactMatch hgnc.symbol:CD80 semapv:UnspecifiedMatching OMIM:112203 CD80 skos:exactMatch ncbigene:941 semapv:UnspecifiedMatching -OMIM:112205 CD79A skos:exactMatch hgnc:CD79A semapv:UnspecifiedMatching +OMIM:112205 CD79A skos:exactMatch hgnc.symbol:1698 semapv:UnspecifiedMatching +OMIM:112205 CD79A skos:exactMatch hgnc.symbol:CD79A semapv:UnspecifiedMatching OMIM:112205 CD79A skos:exactMatch ncbigene:973 semapv:UnspecifiedMatching OMIM:112210 MS4A1 skos:exactMatch UMLS:C1417326 semapv:UnspecifiedMatching OMIM:112210 MS4A1 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching -OMIM:112210 MS4A1 skos:exactMatch hgnc:MS4A1 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:7315 semapv:UnspecifiedMatching +OMIM:112210 MS4A1 skos:exactMatch hgnc.symbol:MS4A1 semapv:UnspecifiedMatching OMIM:112210 MS4A1 skos:exactMatch ncbigene:931 semapv:UnspecifiedMatching +OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch Orphanet:85182 semapv:UnspecifiedMatching OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch UMLS:C1862177 semapv:UnspecifiedMatching -OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch orphanet.ordo:85182 semapv:UnspecifiedMatching OMIM:112260 BGLAP skos:exactMatch UMLS:C1412791 semapv:UnspecifiedMatching -OMIM:112260 BGLAP skos:exactMatch hgnc:BGLAP semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:1043 semapv:UnspecifiedMatching +OMIM:112260 BGLAP skos:exactMatch hgnc.symbol:BGLAP semapv:UnspecifiedMatching OMIM:112260 BGLAP skos:exactMatch ncbigene:632 semapv:UnspecifiedMatching -OMIM:112261 BMP2 skos:exactMatch hgnc:BMP2 semapv:UnspecifiedMatching +OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:1069 semapv:UnspecifiedMatching +OMIM:112261 BMP2 skos:exactMatch hgnc.symbol:BMP2 semapv:UnspecifiedMatching OMIM:112261 BMP2 skos:exactMatch ncbigene:650 semapv:UnspecifiedMatching -OMIM:112262 BMP4 skos:exactMatch hgnc:BMP4 semapv:UnspecifiedMatching +OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:1071 semapv:UnspecifiedMatching +OMIM:112262 BMP4 skos:exactMatch hgnc.symbol:BMP4 semapv:UnspecifiedMatching OMIM:112262 BMP4 skos:exactMatch ncbigene:652 semapv:UnspecifiedMatching -OMIM:112263 BMP3 skos:exactMatch hgnc:BMP3 semapv:UnspecifiedMatching +OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:1070 semapv:UnspecifiedMatching +OMIM:112263 BMP3 skos:exactMatch hgnc.symbol:BMP3 semapv:UnspecifiedMatching OMIM:112263 BMP3 skos:exactMatch ncbigene:651 semapv:UnspecifiedMatching OMIM:112264 BMP1 skos:exactMatch UMLS:C1412804 semapv:UnspecifiedMatching OMIM:112264 BMP1 skos:exactMatch UMLS:C3553887 semapv:UnspecifiedMatching -OMIM:112264 BMP1 skos:exactMatch hgnc:BMP1 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:1067 semapv:UnspecifiedMatching +OMIM:112264 BMP1 skos:exactMatch hgnc.symbol:BMP1 semapv:UnspecifiedMatching OMIM:112264 BMP1 skos:exactMatch ncbigene:649 semapv:UnspecifiedMatching -OMIM:112265 BMP5 skos:exactMatch hgnc:BMP5 semapv:UnspecifiedMatching +OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:1072 semapv:UnspecifiedMatching +OMIM:112265 BMP5 skos:exactMatch hgnc.symbol:BMP5 semapv:UnspecifiedMatching OMIM:112265 BMP5 skos:exactMatch ncbigene:653 semapv:UnspecifiedMatching -OMIM:112266 BMP6 skos:exactMatch hgnc:BMP6 semapv:UnspecifiedMatching +OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:1073 semapv:UnspecifiedMatching +OMIM:112266 BMP6 skos:exactMatch hgnc.symbol:BMP6 semapv:UnspecifiedMatching OMIM:112266 BMP6 skos:exactMatch ncbigene:654 semapv:UnspecifiedMatching -OMIM:112267 BMP7 skos:exactMatch hgnc:BMP7 semapv:UnspecifiedMatching +OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:1074 semapv:UnspecifiedMatching +OMIM:112267 BMP7 skos:exactMatch hgnc.symbol:BMP7 semapv:UnspecifiedMatching OMIM:112267 BMP7 skos:exactMatch ncbigene:655 semapv:UnspecifiedMatching +OMIM:112310 boomerang dysplasia skos:exactMatch Orphanet:1263 semapv:UnspecifiedMatching OMIM:112310 boomerang dysplasia skos:exactMatch UMLS:C0432201 semapv:UnspecifiedMatching -OMIM:112310 boomerang dysplasia skos:exactMatch orphanet.ordo:1263 semapv:UnspecifiedMatching +OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:572385 semapv:UnspecifiedMatching +OMIM:113000 brachydactyly, iia b1 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching OMIM:113000 brachydactyly, iia b1 skos:exactMatch UMLS:C1862112 semapv:UnspecifiedMatching -OMIM:113000 brachydactyly, iia b1 skos:exactMatch orphanet.ordo:572385 semapv:UnspecifiedMatching -OMIM:113000 brachydactyly, iia b1 skos:exactMatch orphanet.ordo:93383 semapv:UnspecifiedMatching +OMIM:113100 brachydactyly, iia c skos:exactMatch Orphanet:93384 semapv:UnspecifiedMatching OMIM:113100 brachydactyly, iia c skos:exactMatch UMLS:C1862103 semapv:UnspecifiedMatching -OMIM:113100 brachydactyly, iia c skos:exactMatch orphanet.ordo:93384 semapv:UnspecifiedMatching OMIM:113200 brachydactyly, iia d skos:exactMatch UMLS:C0220664 semapv:UnspecifiedMatching +OMIM:113300 brachydactyly, iia e1 skos:exactMatch Orphanet:93387 semapv:UnspecifiedMatching OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C1862102 semapv:UnspecifiedMatching OMIM:113300 brachydactyly, iia e1 skos:exactMatch UMLS:C4315392 semapv:UnspecifiedMatching -OMIM:113300 brachydactyly, iia e1 skos:exactMatch orphanet.ordo:93387 semapv:UnspecifiedMatching +OMIM:113500 brachyolmia iia 3 skos:exactMatch Orphanet:93304 semapv:UnspecifiedMatching OMIM:113500 brachyolmia iia 3 skos:exactMatch UMLS:C0432227 semapv:UnspecifiedMatching -OMIM:113500 brachyolmia iia 3 skos:exactMatch orphanet.ordo:93304 semapv:UnspecifiedMatching -OMIM:113503 BDKRB2 skos:exactMatch hgnc:BDKRB2 semapv:UnspecifiedMatching +OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:1030 semapv:UnspecifiedMatching +OMIM:113503 BDKRB2 skos:exactMatch hgnc.symbol:BDKRB2 semapv:UnspecifiedMatching OMIM:113503 BDKRB2 skos:exactMatch ncbigene:624 semapv:UnspecifiedMatching OMIM:113505 BDNF skos:exactMatch UMLS:C1332408 semapv:UnspecifiedMatching OMIM:113505 BDNF skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:113505 BDNF skos:exactMatch UMLS:C4694116 semapv:UnspecifiedMatching -OMIM:113505 BDNF skos:exactMatch hgnc:BDNF semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch hgnc.symbol:1033 semapv:UnspecifiedMatching +OMIM:113505 BDNF skos:exactMatch hgnc.symbol:BDNF semapv:UnspecifiedMatching OMIM:113505 BDNF skos:exactMatch ncbigene:627 semapv:UnspecifiedMatching OMIM:113508 YWHAH skos:exactMatch UMLS:C1421562 semapv:UnspecifiedMatching -OMIM:113508 YWHAH skos:exactMatch hgnc:YWHAH semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:12853 semapv:UnspecifiedMatching +OMIM:113508 YWHAH skos:exactMatch hgnc.symbol:YWHAH semapv:UnspecifiedMatching OMIM:113508 YWHAH skos:exactMatch ncbigene:7533 semapv:UnspecifiedMatching -OMIM:113520 BCAT1 skos:exactMatch hgnc:BCAT1 semapv:UnspecifiedMatching +OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:976 semapv:UnspecifiedMatching +OMIM:113520 BCAT1 skos:exactMatch hgnc.symbol:BCAT1 semapv:UnspecifiedMatching OMIM:113520 BCAT1 skos:exactMatch ncbigene:586 semapv:UnspecifiedMatching OMIM:113530 BCAT2 skos:exactMatch UMLS:C1412752 semapv:UnspecifiedMatching OMIM:113530 BCAT2 skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching -OMIM:113530 BCAT2 skos:exactMatch hgnc:BCAT2 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:977 semapv:UnspecifiedMatching +OMIM:113530 BCAT2 skos:exactMatch hgnc.symbol:BCAT2 semapv:UnspecifiedMatching OMIM:113530 BCAT2 skos:exactMatch ncbigene:587 semapv:UnspecifiedMatching +OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch Orphanet:180176 semapv:UnspecifiedMatching OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch UMLS:C0405471 semapv:UnspecifiedMatching -OMIM:113670 hypertrophy of the breast, juvenile skos:exactMatch orphanet.ordo:180176 semapv:UnspecifiedMatching OMIM:113703 RPL13 skos:exactMatch UMLS:C1335636 semapv:UnspecifiedMatching OMIM:113703 RPL13 skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching -OMIM:113703 RPL13 skos:exactMatch hgnc:RPL13 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:10303 semapv:UnspecifiedMatching +OMIM:113703 RPL13 skos:exactMatch hgnc.symbol:RPL13 semapv:UnspecifiedMatching OMIM:113703 RPL13 skos:exactMatch ncbigene:6137 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C0376571 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C2676676 semapv:UnspecifiedMatching @@ -768,445 +1007,604 @@ OMIM:113705 BRCA1 skos:exactMatch UMLS:C3280442 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C3469525 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch UMLS:C4554406 semapv:UnspecifiedMatching -OMIM:113705 BRCA1 skos:exactMatch hgnc:BRCA1 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:1100 semapv:UnspecifiedMatching +OMIM:113705 BRCA1 skos:exactMatch hgnc.symbol:BRCA1 semapv:UnspecifiedMatching OMIM:113705 BRCA1 skos:exactMatch ncbigene:672 semapv:UnspecifiedMatching -OMIM:113710 TFF1 skos:exactMatch hgnc:TFF1 semapv:UnspecifiedMatching +OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:11755 semapv:UnspecifiedMatching +OMIM:113710 TFF1 skos:exactMatch hgnc.symbol:TFF1 semapv:UnspecifiedMatching OMIM:113710 TFF1 skos:exactMatch ncbigene:7031 semapv:UnspecifiedMatching OMIM:113725 POU4F2 skos:exactMatch UMLS:C1418766 semapv:UnspecifiedMatching -OMIM:113725 POU4F2 skos:exactMatch hgnc:POU4F2 semapv:UnspecifiedMatching +OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:9219 semapv:UnspecifiedMatching +OMIM:113725 POU4F2 skos:exactMatch hgnc.symbol:POU4F2 semapv:UnspecifiedMatching OMIM:113725 POU4F2 skos:exactMatch ncbigene:5458 semapv:UnspecifiedMatching -OMIM:113730 UCP1 skos:exactMatch hgnc:UCP1 semapv:UnspecifiedMatching +OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:12517 semapv:UnspecifiedMatching +OMIM:113730 UCP1 skos:exactMatch hgnc.symbol:UCP1 semapv:UnspecifiedMatching OMIM:113730 UCP1 skos:exactMatch ncbigene:7350 semapv:UnspecifiedMatching OMIM:113810 DST skos:exactMatch UMLS:C1539312 semapv:UnspecifiedMatching OMIM:113810 DST skos:exactMatch UMLS:C3539003 semapv:UnspecifiedMatching OMIM:113810 DST skos:exactMatch UMLS:C3809470 semapv:UnspecifiedMatching -OMIM:113810 DST skos:exactMatch hgnc:DST semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch hgnc.symbol:1090 semapv:UnspecifiedMatching +OMIM:113810 DST skos:exactMatch hgnc.symbol:DST semapv:UnspecifiedMatching OMIM:113810 DST skos:exactMatch ncbigene:667 semapv:UnspecifiedMatching -OMIM:113811 COL17A1 skos:exactMatch hgnc:COL17A1 semapv:UnspecifiedMatching +OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:2194 semapv:UnspecifiedMatching +OMIM:113811 COL17A1 skos:exactMatch hgnc.symbol:COL17A1 semapv:UnspecifiedMatching OMIM:113811 COL17A1 skos:exactMatch ncbigene:1308 semapv:UnspecifiedMatching OMIM:113955 bungarotoxin, alpha, receptor for skos:exactMatch UMLS:C3888101 semapv:UnspecifiedMatching +OMIM:113970 burkitt lymphoma skos:exactMatch Orphanet:543 semapv:UnspecifiedMatching OMIM:113970 burkitt lymphoma skos:exactMatch UMLS:C0006413 semapv:UnspecifiedMatching -OMIM:113970 burkitt lymphoma skos:exactMatch orphanet.ordo:543 semapv:UnspecifiedMatching -OMIM:113995 C5AR1 skos:exactMatch hgnc:C5AR1 semapv:UnspecifiedMatching +OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:1338 semapv:UnspecifiedMatching +OMIM:113995 C5AR1 skos:exactMatch hgnc.symbol:C5AR1 semapv:UnspecifiedMatching OMIM:113995 C5AR1 skos:exactMatch ncbigene:728 semapv:UnspecifiedMatching +OMIM:114000 caffey disease skos:exactMatch Orphanet:1310 semapv:UnspecifiedMatching OMIM:114000 caffey disease skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching -OMIM:114000 caffey disease skos:exactMatch orphanet.ordo:1310 semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch UMLS:C1413078 semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch UMLS:C4225320 semapv:UnspecifiedMatching -OMIM:114010 CAD skos:exactMatch hgnc:CAD semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch hgnc.symbol:1424 semapv:UnspecifiedMatching +OMIM:114010 CAD skos:exactMatch hgnc.symbol:CAD semapv:UnspecifiedMatching OMIM:114010 CAD skos:exactMatch ncbigene:790 semapv:UnspecifiedMatching -OMIM:114019 CDH15 skos:exactMatch hgnc:CDH15 semapv:UnspecifiedMatching +OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:1754 semapv:UnspecifiedMatching +OMIM:114019 CDH15 skos:exactMatch hgnc.symbol:CDH15 semapv:UnspecifiedMatching OMIM:114019 CDH15 skos:exactMatch ncbigene:1013 semapv:UnspecifiedMatching OMIM:114020 CDH2 skos:exactMatch UMLS:C1413277 semapv:UnspecifiedMatching OMIM:114020 CDH2 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching OMIM:114020 CDH2 skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching -OMIM:114020 CDH2 skos:exactMatch hgnc:CDH2 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:1759 semapv:UnspecifiedMatching +OMIM:114020 CDH2 skos:exactMatch hgnc.symbol:CDH2 semapv:UnspecifiedMatching OMIM:114020 CDH2 skos:exactMatch ncbigene:1000 semapv:UnspecifiedMatching -OMIM:114021 CDH3 skos:exactMatch hgnc:CDH3 semapv:UnspecifiedMatching +OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:1762 semapv:UnspecifiedMatching +OMIM:114021 CDH3 skos:exactMatch hgnc.symbol:CDH3 semapv:UnspecifiedMatching OMIM:114021 CDH3 skos:exactMatch ncbigene:1001 semapv:UnspecifiedMatching -OMIM:114025 CTNNA2 skos:exactMatch hgnc:CTNNA2 semapv:UnspecifiedMatching +OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:2510 semapv:UnspecifiedMatching +OMIM:114025 CTNNA2 skos:exactMatch hgnc.symbol:CTNNA2 semapv:UnspecifiedMatching OMIM:114025 CTNNA2 skos:exactMatch ncbigene:1496 semapv:UnspecifiedMatching -OMIM:114050 CALB1 skos:exactMatch hgnc:CALB1 semapv:UnspecifiedMatching +OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:1434 semapv:UnspecifiedMatching +OMIM:114050 CALB1 skos:exactMatch hgnc.symbol:CALB1 semapv:UnspecifiedMatching OMIM:114050 CALB1 skos:exactMatch ncbigene:793 semapv:UnspecifiedMatching -OMIM:114051 CALB2 skos:exactMatch hgnc:CALB2 semapv:UnspecifiedMatching +OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:1435 semapv:UnspecifiedMatching +OMIM:114051 CALB2 skos:exactMatch hgnc.symbol:CALB2 semapv:UnspecifiedMatching OMIM:114051 CALB2 skos:exactMatch ncbigene:794 semapv:UnspecifiedMatching -OMIM:114070 ANXA6 skos:exactMatch hgnc:ANXA6 semapv:UnspecifiedMatching +OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:544 semapv:UnspecifiedMatching +OMIM:114070 ANXA6 skos:exactMatch hgnc.symbol:ANXA6 semapv:UnspecifiedMatching OMIM:114070 ANXA6 skos:exactMatch ncbigene:309 semapv:UnspecifiedMatching OMIM:114078 CAMK2A skos:exactMatch UMLS:C1413099 semapv:UnspecifiedMatching OMIM:114078 CAMK2A skos:exactMatch UMLS:C4540481 semapv:UnspecifiedMatching OMIM:114078 CAMK2A skos:exactMatch UMLS:C4748167 semapv:UnspecifiedMatching -OMIM:114078 CAMK2A skos:exactMatch hgnc:CAMK2A semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:1460 semapv:UnspecifiedMatching +OMIM:114078 CAMK2A skos:exactMatch hgnc.symbol:CAMK2A semapv:UnspecifiedMatching OMIM:114078 CAMK2A skos:exactMatch ncbigene:815 semapv:UnspecifiedMatching -OMIM:114080 CAMK4 skos:exactMatch hgnc:CAMK4 semapv:UnspecifiedMatching +OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:1464 semapv:UnspecifiedMatching +OMIM:114080 CAMK4 skos:exactMatch hgnc.symbol:CAMK4 semapv:UnspecifiedMatching OMIM:114080 CAMK4 skos:exactMatch ncbigene:814 semapv:UnspecifiedMatching -OMIM:114085 S100A10 skos:exactMatch hgnc:S100A10 semapv:UnspecifiedMatching +OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:10487 semapv:UnspecifiedMatching +OMIM:114085 S100A10 skos:exactMatch hgnc.symbol:S100A10 semapv:UnspecifiedMatching OMIM:114085 S100A10 skos:exactMatch ncbigene:6281 semapv:UnspecifiedMatching -OMIM:114090 CAST skos:exactMatch hgnc:CAST semapv:UnspecifiedMatching +OMIM:114090 CAST skos:exactMatch hgnc.symbol:1515 semapv:UnspecifiedMatching +OMIM:114090 CAST skos:exactMatch hgnc.symbol:CAST semapv:UnspecifiedMatching OMIM:114090 CAST skos:exactMatch ncbigene:831 semapv:UnspecifiedMatching -OMIM:114105 PPP3CA skos:exactMatch hgnc:PPP3CA semapv:UnspecifiedMatching +OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:9314 semapv:UnspecifiedMatching +OMIM:114105 PPP3CA skos:exactMatch hgnc.symbol:PPP3CA semapv:UnspecifiedMatching OMIM:114105 PPP3CA skos:exactMatch ncbigene:5530 semapv:UnspecifiedMatching -OMIM:114106 PPP3CB skos:exactMatch hgnc:PPP3CB semapv:UnspecifiedMatching +OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:9315 semapv:UnspecifiedMatching +OMIM:114106 PPP3CB skos:exactMatch hgnc.symbol:PPP3CB semapv:UnspecifiedMatching OMIM:114106 PPP3CB skos:exactMatch ncbigene:5532 semapv:UnspecifiedMatching -OMIM:114107 PPP3CC skos:exactMatch hgnc:PPP3CC semapv:UnspecifiedMatching +OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:9316 semapv:UnspecifiedMatching +OMIM:114107 PPP3CC skos:exactMatch hgnc.symbol:PPP3CC semapv:UnspecifiedMatching OMIM:114107 PPP3CC skos:exactMatch ncbigene:5533 semapv:UnspecifiedMatching -OMIM:114110 S100A6 skos:exactMatch hgnc:S100A6 semapv:UnspecifiedMatching +OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:10496 semapv:UnspecifiedMatching +OMIM:114110 S100A6 skos:exactMatch hgnc.symbol:S100A6 semapv:UnspecifiedMatching OMIM:114110 S100A6 skos:exactMatch ncbigene:6277 semapv:UnspecifiedMatching -OMIM:114130 CALCA skos:exactMatch hgnc:CALCA semapv:UnspecifiedMatching +OMIM:114130 CALCA skos:exactMatch hgnc.symbol:1437 semapv:UnspecifiedMatching +OMIM:114130 CALCA skos:exactMatch hgnc.symbol:CALCA semapv:UnspecifiedMatching OMIM:114130 CALCA skos:exactMatch ncbigene:796 semapv:UnspecifiedMatching -OMIM:114131 CALCR skos:exactMatch hgnc:CALCR semapv:UnspecifiedMatching +OMIM:114131 CALCR skos:exactMatch hgnc.symbol:1440 semapv:UnspecifiedMatching +OMIM:114131 CALCR skos:exactMatch hgnc.symbol:CALCR semapv:UnspecifiedMatching OMIM:114131 CALCR skos:exactMatch ncbigene:799 semapv:UnspecifiedMatching -OMIM:114160 CALCB skos:exactMatch hgnc:CALCB semapv:UnspecifiedMatching +OMIM:114160 CALCB skos:exactMatch hgnc.symbol:1438 semapv:UnspecifiedMatching +OMIM:114160 CALCB skos:exactMatch hgnc.symbol:CALCB semapv:UnspecifiedMatching OMIM:114160 CALCB skos:exactMatch ncbigene:797 semapv:UnspecifiedMatching -OMIM:114170 CAPNS1 skos:exactMatch hgnc:CAPNS1 semapv:UnspecifiedMatching +OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:1481 semapv:UnspecifiedMatching +OMIM:114170 CAPNS1 skos:exactMatch hgnc.symbol:CAPNS1 semapv:UnspecifiedMatching OMIM:114170 CAPNS1 skos:exactMatch ncbigene:826 semapv:UnspecifiedMatching OMIM:114180 CALM1 skos:exactMatch UMLS:C1332659 semapv:UnspecifiedMatching OMIM:114180 CALM1 skos:exactMatch UMLS:C3554047 semapv:UnspecifiedMatching OMIM:114180 CALM1 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching -OMIM:114180 CALM1 skos:exactMatch hgnc:CALM1 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:1442 semapv:UnspecifiedMatching +OMIM:114180 CALM1 skos:exactMatch hgnc.symbol:CALM1 semapv:UnspecifiedMatching OMIM:114180 CALM1 skos:exactMatch ncbigene:801 semapv:UnspecifiedMatching OMIM:114182 CALM2 skos:exactMatch UMLS:C1413089 semapv:UnspecifiedMatching OMIM:114182 CALM2 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching -OMIM:114182 CALM2 skos:exactMatch hgnc:CALM2 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:1445 semapv:UnspecifiedMatching +OMIM:114182 CALM2 skos:exactMatch hgnc.symbol:CALM2 semapv:UnspecifiedMatching OMIM:114182 CALM2 skos:exactMatch ncbigene:805 semapv:UnspecifiedMatching OMIM:114183 CALM3 skos:exactMatch UMLS:C1413093 semapv:UnspecifiedMatching OMIM:114183 CALM3 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching OMIM:114183 CALM3 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching -OMIM:114183 CALM3 skos:exactMatch hgnc:CALM3 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:1449 semapv:UnspecifiedMatching +OMIM:114183 CALM3 skos:exactMatch hgnc.symbol:CALM3 semapv:UnspecifiedMatching OMIM:114183 CALM3 skos:exactMatch ncbigene:808 semapv:UnspecifiedMatching -OMIM:114184 CALML3 skos:exactMatch hgnc:CALML3 semapv:UnspecifiedMatching +OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:1452 semapv:UnspecifiedMatching +OMIM:114184 CALML3 skos:exactMatch hgnc.symbol:CALML3 semapv:UnspecifiedMatching OMIM:114184 CALML3 skos:exactMatch ncbigene:810 semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch UMLS:C1424497 semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching -OMIM:114190 CALCRL skos:exactMatch hgnc:CALCRL semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:16709 semapv:UnspecifiedMatching +OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:CALCRL semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch ncbigene:10203 semapv:UnspecifiedMatching -OMIM:114204 CACNA2D1 skos:exactMatch hgnc:CACNA2D1 semapv:UnspecifiedMatching +OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:1399 semapv:UnspecifiedMatching +OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:CACNA2D1 semapv:UnspecifiedMatching OMIM:114204 CACNA2D1 skos:exactMatch ncbigene:781 semapv:UnspecifiedMatching OMIM:114205 CACNA1C skos:exactMatch UMLS:C1413057 semapv:UnspecifiedMatching OMIM:114205 CACNA1C skos:exactMatch UMLS:C1832916 semapv:UnspecifiedMatching OMIM:114205 CACNA1C skos:exactMatch UMLS:C2678478 semapv:UnspecifiedMatching -OMIM:114205 CACNA1C skos:exactMatch hgnc:CACNA1C semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:1390 semapv:UnspecifiedMatching +OMIM:114205 CACNA1C skos:exactMatch hgnc.symbol:CACNA1C semapv:UnspecifiedMatching OMIM:114205 CACNA1C skos:exactMatch ncbigene:775 semapv:UnspecifiedMatching -OMIM:114206 CACNA1D skos:exactMatch hgnc:CACNA1D semapv:UnspecifiedMatching +OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:1391 semapv:UnspecifiedMatching +OMIM:114206 CACNA1D skos:exactMatch hgnc.symbol:CACNA1D semapv:UnspecifiedMatching OMIM:114206 CACNA1D skos:exactMatch ncbigene:776 semapv:UnspecifiedMatching -OMIM:114207 CACNB1 skos:exactMatch hgnc:CACNB1 semapv:UnspecifiedMatching +OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:1401 semapv:UnspecifiedMatching +OMIM:114207 CACNB1 skos:exactMatch hgnc.symbol:CACNB1 semapv:UnspecifiedMatching OMIM:114207 CACNB1 skos:exactMatch ncbigene:782 semapv:UnspecifiedMatching -OMIM:114208 CACNA1S skos:exactMatch hgnc:CACNA1S semapv:UnspecifiedMatching +OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:1397 semapv:UnspecifiedMatching +OMIM:114208 CACNA1S skos:exactMatch hgnc.symbol:CACNA1S semapv:UnspecifiedMatching OMIM:114208 CACNA1S skos:exactMatch ncbigene:779 semapv:UnspecifiedMatching -OMIM:114209 CACNG1 skos:exactMatch hgnc:CACNG1 semapv:UnspecifiedMatching +OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:1405 semapv:UnspecifiedMatching +OMIM:114209 CACNG1 skos:exactMatch hgnc.symbol:CACNG1 semapv:UnspecifiedMatching OMIM:114209 CACNG1 skos:exactMatch ncbigene:786 semapv:UnspecifiedMatching -OMIM:114210 S100A4 skos:exactMatch hgnc:S100A4 semapv:UnspecifiedMatching +OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:10494 semapv:UnspecifiedMatching +OMIM:114210 S100A4 skos:exactMatch hgnc.symbol:S100A4 semapv:UnspecifiedMatching OMIM:114210 S100A4 skos:exactMatch ncbigene:6275 semapv:UnspecifiedMatching -OMIM:114212 CAPS skos:exactMatch hgnc:CAPS semapv:UnspecifiedMatching +OMIM:114212 CAPS skos:exactMatch hgnc.symbol:1487 semapv:UnspecifiedMatching +OMIM:114212 CAPS skos:exactMatch hgnc.symbol:CAPS semapv:UnspecifiedMatching OMIM:114212 CAPS skos:exactMatch ncbigene:828 semapv:UnspecifiedMatching -OMIM:114213 CALD1 skos:exactMatch hgnc:CALD1 semapv:UnspecifiedMatching +OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:1441 semapv:UnspecifiedMatching +OMIM:114213 CALD1 skos:exactMatch hgnc.symbol:CALD1 semapv:UnspecifiedMatching OMIM:114213 CALD1 skos:exactMatch ncbigene:800 semapv:UnspecifiedMatching -OMIM:114217 CANX skos:exactMatch hgnc:CANX semapv:UnspecifiedMatching +OMIM:114217 CANX skos:exactMatch hgnc.symbol:1473 semapv:UnspecifiedMatching +OMIM:114217 CANX skos:exactMatch hgnc.symbol:CANX semapv:UnspecifiedMatching OMIM:114217 CANX skos:exactMatch ncbigene:821 semapv:UnspecifiedMatching -OMIM:114220 CAPN1 skos:exactMatch hgnc:CAPN1 semapv:UnspecifiedMatching +OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:1476 semapv:UnspecifiedMatching +OMIM:114220 CAPN1 skos:exactMatch hgnc.symbol:CAPN1 semapv:UnspecifiedMatching OMIM:114220 CAPN1 skos:exactMatch ncbigene:823 semapv:UnspecifiedMatching -OMIM:114230 CAPN2 skos:exactMatch hgnc:CAPN2 semapv:UnspecifiedMatching +OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:1479 semapv:UnspecifiedMatching +OMIM:114230 CAPN2 skos:exactMatch hgnc.symbol:CAPN2 semapv:UnspecifiedMatching OMIM:114230 CAPN2 skos:exactMatch ncbigene:824 semapv:UnspecifiedMatching -OMIM:114240 CAPN3 skos:exactMatch hgnc:CAPN3 semapv:UnspecifiedMatching +OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:1480 semapv:UnspecifiedMatching +OMIM:114240 CAPN3 skos:exactMatch hgnc.symbol:CAPN3 semapv:UnspecifiedMatching OMIM:114240 CAPN3 skos:exactMatch ncbigene:825 semapv:UnspecifiedMatching -OMIM:114250 CASQ1 skos:exactMatch hgnc:CASQ1 semapv:UnspecifiedMatching +OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:1512 semapv:UnspecifiedMatching +OMIM:114250 CASQ1 skos:exactMatch hgnc.symbol:CASQ1 semapv:UnspecifiedMatching OMIM:114250 CASQ1 skos:exactMatch ncbigene:844 semapv:UnspecifiedMatching -OMIM:114251 CASQ2 skos:exactMatch hgnc:CASQ2 semapv:UnspecifiedMatching +OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:1513 semapv:UnspecifiedMatching +OMIM:114251 CASQ2 skos:exactMatch hgnc.symbol:CASQ2 semapv:UnspecifiedMatching OMIM:114251 CASQ2 skos:exactMatch ncbigene:845 semapv:UnspecifiedMatching -OMIM:114280 CDW52 skos:exactMatch hgnc:CD52 semapv:UnspecifiedMatching +OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:1804 semapv:UnspecifiedMatching +OMIM:114280 CDW52 skos:exactMatch hgnc.symbol:CD52 semapv:UnspecifiedMatching OMIM:114280 CDW52 skos:exactMatch ncbigene:1043 semapv:UnspecifiedMatching +OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch Orphanet:376 semapv:UnspecifiedMatching OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch UMLS:C0220666 semapv:UnspecifiedMatching -OMIM:114300 arthrogryposis, distal, iia 3 skos:exactMatch orphanet.ordo:376 semapv:UnspecifiedMatching -OMIM:114350 NUP214 skos:exactMatch hgnc:NUP214 semapv:UnspecifiedMatching +OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:8064 semapv:UnspecifiedMatching +OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:NUP214 semapv:UnspecifiedMatching OMIM:114350 NUP214 skos:exactMatch ncbigene:8021 semapv:UnspecifiedMatching +OMIM:114480 breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch UMLS:C0006142 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching -OMIM:114480 breast cancer skos:exactMatch orphanet.ordo:227535 semapv:UnspecifiedMatching OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching OMIM:114500 colorectal cancer skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:210159 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:33402 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:449 semapv:UnspecifiedMatching +OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:UnspecifiedMatching OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C2239176 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch orphanet.ordo:210159 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch orphanet.ordo:33402 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch orphanet.ordo:449 semapv:UnspecifiedMatching -OMIM:114550 hepatocellular carcinoma skos:exactMatch orphanet.ordo:88673 semapv:UnspecifiedMatching OMIM:114610 CNR1 skos:exactMatch UMLS:C1413554 semapv:UnspecifiedMatching -OMIM:114610 CNR1 skos:exactMatch hgnc:CNR1 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:2159 semapv:UnspecifiedMatching +OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:CNR1 semapv:UnspecifiedMatching OMIM:114610 CNR1 skos:exactMatch ncbigene:1268 semapv:UnspecifiedMatching -OMIM:114750 CA3 skos:exactMatch hgnc:CA3 semapv:UnspecifiedMatching +OMIM:114750 CA3 skos:exactMatch hgnc.symbol:1374 semapv:UnspecifiedMatching +OMIM:114750 CA3 skos:exactMatch hgnc.symbol:CA3 semapv:UnspecifiedMatching OMIM:114750 CA3 skos:exactMatch ncbigene:761 semapv:UnspecifiedMatching -OMIM:114760 CA4 skos:exactMatch hgnc:CA4 semapv:UnspecifiedMatching +OMIM:114760 CA4 skos:exactMatch hgnc.symbol:1375 semapv:UnspecifiedMatching +OMIM:114760 CA4 skos:exactMatch hgnc.symbol:CA4 semapv:UnspecifiedMatching OMIM:114760 CA4 skos:exactMatch ncbigene:762 semapv:UnspecifiedMatching -OMIM:114761 CA5A skos:exactMatch hgnc:CA5A semapv:UnspecifiedMatching +OMIM:114761 CA5A skos:exactMatch hgnc.symbol:1377 semapv:UnspecifiedMatching +OMIM:114761 CA5A skos:exactMatch hgnc.symbol:CA5A semapv:UnspecifiedMatching OMIM:114761 CA5A skos:exactMatch ncbigene:763 semapv:UnspecifiedMatching -OMIM:114770 CA7 skos:exactMatch hgnc:CA7 semapv:UnspecifiedMatching +OMIM:114770 CA7 skos:exactMatch hgnc.symbol:1381 semapv:UnspecifiedMatching +OMIM:114770 CA7 skos:exactMatch hgnc.symbol:CA7 semapv:UnspecifiedMatching OMIM:114770 CA7 skos:exactMatch ncbigene:766 semapv:UnspecifiedMatching -OMIM:114780 CA6 skos:exactMatch hgnc:CA6 semapv:UnspecifiedMatching +OMIM:114780 CA6 skos:exactMatch hgnc.symbol:1380 semapv:UnspecifiedMatching +OMIM:114780 CA6 skos:exactMatch hgnc.symbol:CA6 semapv:UnspecifiedMatching OMIM:114780 CA6 skos:exactMatch ncbigene:765 semapv:UnspecifiedMatching -OMIM:114800 CA1 skos:exactMatch hgnc:CA1 semapv:UnspecifiedMatching +OMIM:114800 CA1 skos:exactMatch hgnc.symbol:1368 semapv:UnspecifiedMatching +OMIM:114800 CA1 skos:exactMatch hgnc.symbol:CA1 semapv:UnspecifiedMatching OMIM:114800 CA1 skos:exactMatch ncbigene:759 semapv:UnspecifiedMatching -OMIM:114815 CA8 skos:exactMatch hgnc:CA8 semapv:UnspecifiedMatching +OMIM:114815 CA8 skos:exactMatch hgnc.symbol:1382 semapv:UnspecifiedMatching +OMIM:114815 CA8 skos:exactMatch hgnc.symbol:CA8 semapv:UnspecifiedMatching OMIM:114815 CA8 skos:exactMatch ncbigene:767 semapv:UnspecifiedMatching OMIM:114830 CBR1 skos:exactMatch UMLS:C1413154 semapv:UnspecifiedMatching -OMIM:114830 CBR1 skos:exactMatch hgnc:CBR1 semapv:UnspecifiedMatching +OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:1548 semapv:UnspecifiedMatching +OMIM:114830 CBR1 skos:exactMatch hgnc.symbol:CBR1 semapv:UnspecifiedMatching OMIM:114830 CBR1 skos:exactMatch ncbigene:873 semapv:UnspecifiedMatching -OMIM:114835 CES1 skos:exactMatch hgnc:CES1 semapv:UnspecifiedMatching +OMIM:114835 CES1 skos:exactMatch hgnc.symbol:1863 semapv:UnspecifiedMatching +OMIM:114835 CES1 skos:exactMatch hgnc.symbol:CES1 semapv:UnspecifiedMatching OMIM:114835 CES1 skos:exactMatch ncbigene:1066 semapv:UnspecifiedMatching -OMIM:114840 CEL skos:exactMatch hgnc:CEL semapv:UnspecifiedMatching +OMIM:114840 CEL skos:exactMatch hgnc.symbol:1848 semapv:UnspecifiedMatching +OMIM:114840 CEL skos:exactMatch hgnc.symbol:CEL semapv:UnspecifiedMatching OMIM:114840 CEL skos:exactMatch ncbigene:1056 semapv:UnspecifiedMatching -OMIM:114850 CPA1 skos:exactMatch hgnc:CPA1 semapv:UnspecifiedMatching +OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:2296 semapv:UnspecifiedMatching +OMIM:114850 CPA1 skos:exactMatch hgnc.symbol:CPA1 semapv:UnspecifiedMatching OMIM:114850 CPA1 skos:exactMatch ncbigene:1357 semapv:UnspecifiedMatching -OMIM:114851 CPA3 skos:exactMatch hgnc:CPA3 semapv:UnspecifiedMatching +OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:2298 semapv:UnspecifiedMatching +OMIM:114851 CPA3 skos:exactMatch hgnc.symbol:CPA3 semapv:UnspecifiedMatching OMIM:114851 CPA3 skos:exactMatch ncbigene:1359 semapv:UnspecifiedMatching -OMIM:114852 CPB1 skos:exactMatch hgnc:CPB1 semapv:UnspecifiedMatching +OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:2299 semapv:UnspecifiedMatching +OMIM:114852 CPB1 skos:exactMatch hgnc.symbol:CPB1 semapv:UnspecifiedMatching OMIM:114852 CPB1 skos:exactMatch ncbigene:1360 semapv:UnspecifiedMatching -OMIM:114855 CPE skos:exactMatch hgnc:CPE semapv:UnspecifiedMatching +OMIM:114855 CPE skos:exactMatch hgnc.symbol:2303 semapv:UnspecifiedMatching +OMIM:114855 CPE skos:exactMatch hgnc.symbol:CPE semapv:UnspecifiedMatching OMIM:114855 CPE skos:exactMatch ncbigene:1363 semapv:UnspecifiedMatching -OMIM:114860 CPM skos:exactMatch hgnc:CPM semapv:UnspecifiedMatching +OMIM:114860 CPM skos:exactMatch hgnc.symbol:2311 semapv:UnspecifiedMatching +OMIM:114860 CPM skos:exactMatch hgnc.symbol:CPM semapv:UnspecifiedMatching OMIM:114860 CPM skos:exactMatch ncbigene:1368 semapv:UnspecifiedMatching -OMIM:114890 CEACAM5 skos:exactMatch hgnc:CEACAM5 semapv:UnspecifiedMatching +OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:1817 semapv:UnspecifiedMatching +OMIM:114890 CEACAM5 skos:exactMatch hgnc.symbol:CEACAM5 semapv:UnspecifiedMatching OMIM:114890 CEACAM5 skos:exactMatch ncbigene:1048 semapv:UnspecifiedMatching +OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching -OMIM:115150 cardiofaciocutaneous syndrome 1 skos:exactMatch orphanet.ordo:1340 semapv:UnspecifiedMatching +OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch Orphanet:300751 semapv:UnspecifiedMatching OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch UMLS:C1449563 semapv:UnspecifiedMatching -OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch orphanet.ordo:154 semapv:UnspecifiedMatching -OMIM:115200 cardiomyopathy, dilated, 1a skos:exactMatch orphanet.ordo:300751 semapv:UnspecifiedMatching +OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch Orphanet:199285 semapv:UnspecifiedMatching OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch UMLS:C2676023 semapv:UnspecifiedMatching -OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant skos:exactMatch orphanet.ordo:199285 semapv:UnspecifiedMatching -OMIM:115435 HAPLN1 skos:exactMatch hgnc:HAPLN1 semapv:UnspecifiedMatching +OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:2380 semapv:UnspecifiedMatching +OMIM:115435 HAPLN1 skos:exactMatch hgnc.symbol:HAPLN1 semapv:UnspecifiedMatching OMIM:115435 HAPLN1 skos:exactMatch ncbigene:1404 semapv:UnspecifiedMatching -OMIM:115437 MATN1 skos:exactMatch hgnc:MATN1 semapv:UnspecifiedMatching +OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:6907 semapv:UnspecifiedMatching +OMIM:115437 MATN1 skos:exactMatch hgnc.symbol:MATN1 semapv:UnspecifiedMatching OMIM:115437 MATN1 skos:exactMatch ncbigene:4146 semapv:UnspecifiedMatching -OMIM:115440 CSNK2A1 skos:exactMatch hgnc:CSNK2A1 semapv:UnspecifiedMatching +OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:2457 semapv:UnspecifiedMatching +OMIM:115440 CSNK2A1 skos:exactMatch hgnc.symbol:CSNK2A1 semapv:UnspecifiedMatching OMIM:115440 CSNK2A1 skos:exactMatch ncbigene:1457 semapv:UnspecifiedMatching OMIM:115441 CSNK2B skos:exactMatch UMLS:C1413762 semapv:UnspecifiedMatching OMIM:115441 CSNK2B skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching -OMIM:115441 CSNK2B skos:exactMatch hgnc:CSNK2B semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:2460 semapv:UnspecifiedMatching +OMIM:115441 CSNK2B skos:exactMatch hgnc.symbol:CSNK2B semapv:UnspecifiedMatching OMIM:115441 CSNK2B skos:exactMatch ncbigene:1460 semapv:UnspecifiedMatching -OMIM:115442 CSNK2A2 skos:exactMatch hgnc:CSNK2A2 semapv:UnspecifiedMatching +OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:2459 semapv:UnspecifiedMatching +OMIM:115442 CSNK2A2 skos:exactMatch hgnc.symbol:CSNK2A2 semapv:UnspecifiedMatching OMIM:115442 CSNK2A2 skos:exactMatch ncbigene:1459 semapv:UnspecifiedMatching -OMIM:115450 CSN1 skos:exactMatch hgnc:CSN1S1 semapv:UnspecifiedMatching +OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:2445 semapv:UnspecifiedMatching +OMIM:115450 CSN1 skos:exactMatch hgnc.symbol:CSN1S1 semapv:UnspecifiedMatching OMIM:115450 CSN1 skos:exactMatch ncbigene:1446 semapv:UnspecifiedMatching -OMIM:115460 CSN2 skos:exactMatch hgnc:CSN2 semapv:UnspecifiedMatching +OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:2447 semapv:UnspecifiedMatching +OMIM:115460 CSN2 skos:exactMatch hgnc.symbol:CSN2 semapv:UnspecifiedMatching OMIM:115460 CSN2 skos:exactMatch ncbigene:1447 semapv:UnspecifiedMatching -OMIM:115500 CAT skos:exactMatch hgnc:CAT semapv:UnspecifiedMatching +OMIM:115500 CAT skos:exactMatch hgnc.symbol:1516 semapv:UnspecifiedMatching +OMIM:115500 CAT skos:exactMatch hgnc.symbol:CAT semapv:UnspecifiedMatching OMIM:115500 CAT skos:exactMatch ncbigene:847 semapv:UnspecifiedMatching -OMIM:115501 TYRP1 skos:exactMatch hgnc:TYRP1 semapv:UnspecifiedMatching +OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:12450 semapv:UnspecifiedMatching +OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:TYRP1 semapv:UnspecifiedMatching OMIM:115501 TYRP1 skos:exactMatch ncbigene:7306 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98984 semapv:UnspecifiedMatching +OMIM:116300 cataract 30, multiple types skos:exactMatch Orphanet:98992 semapv:UnspecifiedMatching OMIM:116300 cataract 30, multiple types skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch orphanet.ordo:98984 semapv:UnspecifiedMatching -OMIM:116300 cataract 30, multiple types skos:exactMatch orphanet.ordo:98992 semapv:UnspecifiedMatching -OMIM:116790 COMT skos:exactMatch hgnc:COMT semapv:UnspecifiedMatching +OMIM:116790 COMT skos:exactMatch hgnc.symbol:2228 semapv:UnspecifiedMatching +OMIM:116790 COMT skos:exactMatch hgnc.symbol:COMT semapv:UnspecifiedMatching OMIM:116790 COMT skos:exactMatch ncbigene:1312 semapv:UnspecifiedMatching +OMIM:116800 cataract 5, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C1861821 semapv:UnspecifiedMatching OMIM:116800 cataract 5, multiple types skos:exactMatch UMLS:C3888417 semapv:UnspecifiedMatching -OMIM:116800 cataract 5, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:116805 CTNNA1 skos:exactMatch hgnc:CTNNA1 semapv:UnspecifiedMatching +OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:2509 semapv:UnspecifiedMatching +OMIM:116805 CTNNA1 skos:exactMatch hgnc.symbol:CTNNA1 semapv:UnspecifiedMatching OMIM:116805 CTNNA1 skos:exactMatch ncbigene:1495 semapv:UnspecifiedMatching -OMIM:116806 CTNNB1 skos:exactMatch hgnc:CTNNB1 semapv:UnspecifiedMatching +OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:2514 semapv:UnspecifiedMatching +OMIM:116806 CTNNB1 skos:exactMatch hgnc.symbol:CTNNB1 semapv:UnspecifiedMatching OMIM:116806 CTNNB1 skos:exactMatch ncbigene:1499 semapv:UnspecifiedMatching -OMIM:116810 CTSB skos:exactMatch hgnc:CTSB semapv:UnspecifiedMatching +OMIM:116810 CTSB skos:exactMatch hgnc.symbol:2527 semapv:UnspecifiedMatching +OMIM:116810 CTSB skos:exactMatch hgnc.symbol:CTSB semapv:UnspecifiedMatching OMIM:116810 CTSB skos:exactMatch ncbigene:1508 semapv:UnspecifiedMatching -OMIM:116820 CTSH skos:exactMatch hgnc:CTSH semapv:UnspecifiedMatching +OMIM:116820 CTSH skos:exactMatch hgnc.symbol:2535 semapv:UnspecifiedMatching +OMIM:116820 CTSH skos:exactMatch hgnc.symbol:CTSH semapv:UnspecifiedMatching OMIM:116820 CTSH skos:exactMatch ncbigene:1512 semapv:UnspecifiedMatching -OMIM:116830 CTSG skos:exactMatch hgnc:CTSG semapv:UnspecifiedMatching +OMIM:116830 CTSG skos:exactMatch hgnc.symbol:2532 semapv:UnspecifiedMatching +OMIM:116830 CTSG skos:exactMatch hgnc.symbol:CTSG semapv:UnspecifiedMatching OMIM:116830 CTSG skos:exactMatch ncbigene:1511 semapv:UnspecifiedMatching -OMIM:116831 GZMH skos:exactMatch hgnc:GZMH semapv:UnspecifiedMatching +OMIM:116831 GZMH skos:exactMatch hgnc.symbol:4710 semapv:UnspecifiedMatching +OMIM:116831 GZMH skos:exactMatch hgnc.symbol:GZMH semapv:UnspecifiedMatching OMIM:116831 GZMH skos:exactMatch ncbigene:2999 semapv:UnspecifiedMatching -OMIM:116840 CTSD skos:exactMatch hgnc:CTSD semapv:UnspecifiedMatching +OMIM:116840 CTSD skos:exactMatch hgnc.symbol:2529 semapv:UnspecifiedMatching +OMIM:116840 CTSD skos:exactMatch hgnc.symbol:CTSD semapv:UnspecifiedMatching OMIM:116840 CTSD skos:exactMatch ncbigene:1509 semapv:UnspecifiedMatching -OMIM:116845 CTSS skos:exactMatch hgnc:CTSS semapv:UnspecifiedMatching +OMIM:116845 CTSS skos:exactMatch hgnc.symbol:2545 semapv:UnspecifiedMatching +OMIM:116845 CTSS skos:exactMatch hgnc.symbol:CTSS semapv:UnspecifiedMatching OMIM:116845 CTSS skos:exactMatch ncbigene:1520 semapv:UnspecifiedMatching +OMIM:116860 cerebral cavernous malformations skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C1366911 semapv:UnspecifiedMatching OMIM:116860 cerebral cavernous malformations skos:exactMatch UMLS:C2919945 semapv:UnspecifiedMatching -OMIM:116860 cerebral cavernous malformations skos:exactMatch orphanet.ordo:221061 semapv:UnspecifiedMatching -OMIM:116880 CTSL skos:exactMatch hgnc:CTSL semapv:UnspecifiedMatching +OMIM:116880 CTSL skos:exactMatch hgnc.symbol:2537 semapv:UnspecifiedMatching +OMIM:116880 CTSL skos:exactMatch hgnc.symbol:CTSL semapv:UnspecifiedMatching OMIM:116880 CTSL skos:exactMatch ncbigene:1514 semapv:UnspecifiedMatching -OMIM:116890 CTSE skos:exactMatch hgnc:CTSE semapv:UnspecifiedMatching +OMIM:116890 CTSE skos:exactMatch hgnc.symbol:2530 semapv:UnspecifiedMatching +OMIM:116890 CTSE skos:exactMatch hgnc.symbol:CTSE semapv:UnspecifiedMatching OMIM:116890 CTSE skos:exactMatch ncbigene:1510 semapv:UnspecifiedMatching -OMIM:116896 CUX1 skos:exactMatch hgnc:CUX1 semapv:UnspecifiedMatching +OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:2557 semapv:UnspecifiedMatching +OMIM:116896 CUX1 skos:exactMatch hgnc.symbol:CUX1 semapv:UnspecifiedMatching OMIM:116896 CUX1 skos:exactMatch ncbigene:1523 semapv:UnspecifiedMatching -OMIM:116897 CEBPA skos:exactMatch hgnc:CEBPA semapv:UnspecifiedMatching +OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:1833 semapv:UnspecifiedMatching +OMIM:116897 CEBPA skos:exactMatch hgnc.symbol:CEBPA semapv:UnspecifiedMatching OMIM:116897 CEBPA skos:exactMatch ncbigene:1050 semapv:UnspecifiedMatching -OMIM:116898 CEBPD skos:exactMatch hgnc:CEBPD semapv:UnspecifiedMatching +OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:1835 semapv:UnspecifiedMatching +OMIM:116898 CEBPD skos:exactMatch hgnc.symbol:CEBPD semapv:UnspecifiedMatching OMIM:116898 CEBPD skos:exactMatch ncbigene:1052 semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch UMLS:C0249197 semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch UMLS:C4015938 semapv:UnspecifiedMatching -OMIM:116899 CDKN1A skos:exactMatch hgnc:CDKN1A semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:1784 semapv:UnspecifiedMatching +OMIM:116899 CDKN1A skos:exactMatch hgnc.symbol:CDKN1A semapv:UnspecifiedMatching OMIM:116899 CDKN1A skos:exactMatch ncbigene:1026 semapv:UnspecifiedMatching -OMIM:116900 CKS1B skos:exactMatch hgnc:CKS1B semapv:UnspecifiedMatching +OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:19083 semapv:UnspecifiedMatching +OMIM:116900 CKS1B skos:exactMatch hgnc.symbol:CKS1B semapv:UnspecifiedMatching OMIM:116900 CKS1B skos:exactMatch ncbigene:1163 semapv:UnspecifiedMatching -OMIM:116901 CKS2 skos:exactMatch hgnc:CKS2 semapv:UnspecifiedMatching +OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:2000 semapv:UnspecifiedMatching +OMIM:116901 CKS2 skos:exactMatch hgnc.symbol:CKS2 semapv:UnspecifiedMatching OMIM:116901 CKS2 skos:exactMatch ncbigene:1164 semapv:UnspecifiedMatching +OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:2968 semapv:UnspecifiedMatching +OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch Orphanet:99842 semapv:UnspecifiedMatching OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch UMLS:C0398738 semapv:UnspecifiedMatching -OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch orphanet.ordo:2968 semapv:UnspecifiedMatching -OMIM:116920 leukocyte adhesion deficiency, iia 1 skos:exactMatch orphanet.ordo:99842 semapv:UnspecifiedMatching -OMIM:116930 NCAM1 skos:exactMatch hgnc:NCAM1 semapv:UnspecifiedMatching +OMIM:116930 NCAM1 skos:exactMatch hgnc.symbol:7656 semapv:UnspecifiedMatching +OMIM:116930 NCAM1 skos:exactMatch hgnc.symbol:NCAM1 semapv:UnspecifiedMatching OMIM:116930 NCAM1 skos:exactMatch ncbigene:4684 semapv:UnspecifiedMatching -OMIM:116940 CDK1 skos:exactMatch hgnc:CDK1 semapv:UnspecifiedMatching +OMIM:116940 CDK1 skos:exactMatch hgnc.symbol:1722 semapv:UnspecifiedMatching +OMIM:116940 CDK1 skos:exactMatch hgnc.symbol:CDK1 semapv:UnspecifiedMatching OMIM:116940 CDK1 skos:exactMatch ncbigene:983 semapv:UnspecifiedMatching OMIM:116945 MCM2 skos:exactMatch UMLS:C1334489 semapv:UnspecifiedMatching OMIM:116945 MCM2 skos:exactMatch UMLS:C4310775 semapv:UnspecifiedMatching -OMIM:116945 MCM2 skos:exactMatch hgnc:MCM2 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch hgnc.symbol:6944 semapv:UnspecifiedMatching +OMIM:116945 MCM2 skos:exactMatch hgnc.symbol:MCM2 semapv:UnspecifiedMatching OMIM:116945 MCM2 skos:exactMatch ncbigene:4171 semapv:UnspecifiedMatching -OMIM:116946 CDC27 skos:exactMatch hgnc:CDC27 semapv:UnspecifiedMatching +OMIM:116946 CDC27 skos:exactMatch hgnc.symbol:1728 semapv:UnspecifiedMatching +OMIM:116946 CDC27 skos:exactMatch hgnc.symbol:CDC27 semapv:UnspecifiedMatching OMIM:116946 CDC27 skos:exactMatch ncbigene:996 semapv:UnspecifiedMatching -OMIM:116947 CDC25A skos:exactMatch hgnc:CDC25A semapv:UnspecifiedMatching +OMIM:116947 CDC25A skos:exactMatch hgnc.symbol:1725 semapv:UnspecifiedMatching +OMIM:116947 CDC25A skos:exactMatch hgnc.symbol:CDC25A semapv:UnspecifiedMatching OMIM:116947 CDC25A skos:exactMatch ncbigene:993 semapv:UnspecifiedMatching -OMIM:116948 CDC34 skos:exactMatch hgnc:CDC34 semapv:UnspecifiedMatching +OMIM:116948 CDC34 skos:exactMatch hgnc.symbol:1734 semapv:UnspecifiedMatching +OMIM:116948 CDC34 skos:exactMatch hgnc.symbol:CDC34 semapv:UnspecifiedMatching OMIM:116948 CDC34 skos:exactMatch ncbigene:997 semapv:UnspecifiedMatching -OMIM:116949 CDC25B skos:exactMatch hgnc:CDC25B semapv:UnspecifiedMatching +OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:1726 semapv:UnspecifiedMatching +OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:CDC25B semapv:UnspecifiedMatching OMIM:116949 CDC25B skos:exactMatch ncbigene:994 semapv:UnspecifiedMatching -OMIM:116951 CDK11A skos:exactMatch hgnc:CDK11A semapv:UnspecifiedMatching +OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:1730 semapv:UnspecifiedMatching +OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:CDK11A semapv:UnspecifiedMatching OMIM:116951 CDK11A skos:exactMatch ncbigene:728642 semapv:UnspecifiedMatching OMIM:116952 CDC42 skos:exactMatch UMLS:C1366537 semapv:UnspecifiedMatching OMIM:116952 CDC42 skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching -OMIM:116952 CDC42 skos:exactMatch hgnc:CDC42 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch hgnc.symbol:1736 semapv:UnspecifiedMatching +OMIM:116952 CDC42 skos:exactMatch hgnc.symbol:CDC42 semapv:UnspecifiedMatching OMIM:116952 CDC42 skos:exactMatch ncbigene:998 semapv:UnspecifiedMatching -OMIM:116953 CDK2 skos:exactMatch hgnc:CDK2 semapv:UnspecifiedMatching +OMIM:116953 CDK2 skos:exactMatch hgnc.symbol:1771 semapv:UnspecifiedMatching +OMIM:116953 CDK2 skos:exactMatch hgnc.symbol:CDK2 semapv:UnspecifiedMatching OMIM:116953 CDK2 skos:exactMatch ncbigene:1017 semapv:UnspecifiedMatching -OMIM:116955 CNBP skos:exactMatch hgnc:CNBP semapv:UnspecifiedMatching +OMIM:116955 CNBP skos:exactMatch hgnc.symbol:13164 semapv:UnspecifiedMatching +OMIM:116955 CNBP skos:exactMatch hgnc.symbol:CNBP semapv:UnspecifiedMatching OMIM:116955 CNBP skos:exactMatch ncbigene:7555 semapv:UnspecifiedMatching -OMIM:116957 RBL1 skos:exactMatch hgnc:RBL1 semapv:UnspecifiedMatching +OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:9893 semapv:UnspecifiedMatching +OMIM:116957 RBL1 skos:exactMatch hgnc.symbol:RBL1 semapv:UnspecifiedMatching OMIM:116957 RBL1 skos:exactMatch ncbigene:5933 semapv:UnspecifiedMatching -OMIM:116960 MORF4 skos:exactMatch hgnc:MORF4 semapv:UnspecifiedMatching +OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:15773 semapv:UnspecifiedMatching +OMIM:116960 MORF4 skos:exactMatch hgnc.symbol:MORF4 semapv:UnspecifiedMatching OMIM:116960 MORF4 skos:exactMatch ncbigene:10934 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:178145 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:597 semapv:UnspecifiedMatching +OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch orphanet.ordo:178145 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch orphanet.ordo:597 semapv:UnspecifiedMatching -OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch orphanet.ordo:598 semapv:UnspecifiedMatching -OMIM:117139 CENPA skos:exactMatch hgnc:CENPA semapv:UnspecifiedMatching +OMIM:117139 CENPA skos:exactMatch hgnc.symbol:1851 semapv:UnspecifiedMatching +OMIM:117139 CENPA skos:exactMatch hgnc.symbol:CENPA semapv:UnspecifiedMatching OMIM:117139 CENPA skos:exactMatch ncbigene:1058 semapv:UnspecifiedMatching OMIM:117140 CENPB skos:exactMatch UMLS:C1413339 semapv:UnspecifiedMatching -OMIM:117140 CENPB skos:exactMatch hgnc:CENPB semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch hgnc.symbol:1852 semapv:UnspecifiedMatching +OMIM:117140 CENPB skos:exactMatch hgnc.symbol:CENPB semapv:UnspecifiedMatching OMIM:117140 CENPB skos:exactMatch ncbigene:1059 semapv:UnspecifiedMatching -OMIM:117141 CENPC1 skos:exactMatch hgnc:CENPC semapv:UnspecifiedMatching +OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:1854 semapv:UnspecifiedMatching +OMIM:117141 CENPC1 skos:exactMatch hgnc.symbol:CENPC semapv:UnspecifiedMatching OMIM:117141 CENPC1 skos:exactMatch ncbigene:1060 semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch UMLS:C1413342 semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch UMLS:C4015080 semapv:UnspecifiedMatching -OMIM:117143 CENPE skos:exactMatch hgnc:CENPE semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch hgnc.symbol:1856 semapv:UnspecifiedMatching +OMIM:117143 CENPE skos:exactMatch hgnc.symbol:CENPE semapv:UnspecifiedMatching OMIM:117143 CENPE skos:exactMatch ncbigene:1062 semapv:UnspecifiedMatching +OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch Orphanet:217012 semapv:UnspecifiedMatching OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch UMLS:C1861736 semapv:UnspecifiedMatching -OMIM:117210 spinocerebellar ataxia 31 skos:exactMatch orphanet.ordo:217012 semapv:UnspecifiedMatching -OMIM:117340 CDR2 skos:exactMatch hgnc:CDR2 semapv:UnspecifiedMatching +OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:1799 semapv:UnspecifiedMatching +OMIM:117340 CDR2 skos:exactMatch hgnc.symbol:CDR2 semapv:UnspecifiedMatching OMIM:117340 CDR2 skos:exactMatch ncbigene:1039 semapv:UnspecifiedMatching +OMIM:117550 sotos syndrome skos:exactMatch Orphanet:821 semapv:UnspecifiedMatching OMIM:117550 sotos syndrome skos:exactMatch UMLS:C0175695 semapv:UnspecifiedMatching OMIM:117550 sotos syndrome skos:exactMatch UMLS:C4551477 semapv:UnspecifiedMatching -OMIM:117550 sotos syndrome skos:exactMatch orphanet.ordo:821 semapv:UnspecifiedMatching -OMIM:117700 CP skos:exactMatch hgnc:CP semapv:UnspecifiedMatching +OMIM:117700 CP skos:exactMatch hgnc.symbol:2295 semapv:UnspecifiedMatching +OMIM:117700 CP skos:exactMatch hgnc.symbol:CP semapv:UnspecifiedMatching OMIM:117700 CP skos:exactMatch ncbigene:1356 semapv:UnspecifiedMatching -OMIM:118190 HSPD1 skos:exactMatch hgnc:HSPD1 semapv:UnspecifiedMatching +OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:5261 semapv:UnspecifiedMatching +OMIM:118190 HSPD1 skos:exactMatch hgnc.symbol:HSPD1 semapv:UnspecifiedMatching OMIM:118190 HSPD1 skos:exactMatch ncbigene:3329 semapv:UnspecifiedMatching +OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch Orphanet:101082 semapv:UnspecifiedMatching OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0007959 semapv:UnspecifiedMatching OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0270912 semapv:UnspecifiedMatching OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch UMLS:C0751036 semapv:UnspecifiedMatching -OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b skos:exactMatch orphanet.ordo:101082 semapv:UnspecifiedMatching +OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch Orphanet:101081 semapv:UnspecifiedMatching OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching -OMIM:118220 charcot-marie-tooth disease, demyelinating, iia 1a skos:exactMatch orphanet.ordo:101081 semapv:UnspecifiedMatching +OMIM:118400 cherubism skos:exactMatch Orphanet:184 semapv:UnspecifiedMatching OMIM:118400 cherubism skos:exactMatch UMLS:C0008029 semapv:UnspecifiedMatching -OMIM:118400 cherubism skos:exactMatch orphanet.ordo:184 semapv:UnspecifiedMatching OMIM:118423 CHN1 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching OMIM:118423 CHN1 skos:exactMatch UMLS:C1413396 semapv:UnspecifiedMatching -OMIM:118423 CHN1 skos:exactMatch hgnc:CHN1 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:1943 semapv:UnspecifiedMatching +OMIM:118423 CHN1 skos:exactMatch hgnc.symbol:CHN1 semapv:UnspecifiedMatching OMIM:118423 CHN1 skos:exactMatch ncbigene:1123 semapv:UnspecifiedMatching -OMIM:118425 CLCN1 skos:exactMatch hgnc:CLCN1 semapv:UnspecifiedMatching +OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:2019 semapv:UnspecifiedMatching +OMIM:118425 CLCN1 skos:exactMatch hgnc.symbol:CLCN1 semapv:UnspecifiedMatching OMIM:118425 CLCN1 skos:exactMatch ncbigene:1180 semapv:UnspecifiedMatching -OMIM:118440 CCK skos:exactMatch hgnc:CCK semapv:UnspecifiedMatching +OMIM:118440 CCK skos:exactMatch hgnc.symbol:1569 semapv:UnspecifiedMatching +OMIM:118440 CCK skos:exactMatch hgnc.symbol:CCK semapv:UnspecifiedMatching OMIM:118440 CCK skos:exactMatch ncbigene:885 semapv:UnspecifiedMatching -OMIM:118444 CCKAR skos:exactMatch hgnc:CCKAR semapv:UnspecifiedMatching +OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:1570 semapv:UnspecifiedMatching +OMIM:118444 CCKAR skos:exactMatch hgnc.symbol:CCKAR semapv:UnspecifiedMatching OMIM:118444 CCKAR skos:exactMatch ncbigene:886 semapv:UnspecifiedMatching -OMIM:118445 CCKBR skos:exactMatch hgnc:CCKBR semapv:UnspecifiedMatching +OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:1571 semapv:UnspecifiedMatching +OMIM:118445 CCKBR skos:exactMatch hgnc.symbol:CCKBR semapv:UnspecifiedMatching OMIM:118445 CCKBR skos:exactMatch ncbigene:887 semapv:UnspecifiedMatching -OMIM:118455 CYP7A1 skos:exactMatch hgnc:CYP7A1 semapv:UnspecifiedMatching +OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:2651 semapv:UnspecifiedMatching +OMIM:118455 CYP7A1 skos:exactMatch hgnc.symbol:CYP7A1 semapv:UnspecifiedMatching OMIM:118455 CYP7A1 skos:exactMatch ncbigene:1581 semapv:UnspecifiedMatching -OMIM:118470 CETP skos:exactMatch hgnc:CETP semapv:UnspecifiedMatching +OMIM:118470 CETP skos:exactMatch hgnc.symbol:1869 semapv:UnspecifiedMatching +OMIM:118470 CETP skos:exactMatch hgnc.symbol:CETP semapv:UnspecifiedMatching OMIM:118470 CETP skos:exactMatch ncbigene:1071 semapv:UnspecifiedMatching -OMIM:118485 CYP11A1 skos:exactMatch hgnc:CYP11A1 semapv:UnspecifiedMatching +OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:2590 semapv:UnspecifiedMatching +OMIM:118485 CYP11A1 skos:exactMatch hgnc.symbol:CYP11A1 semapv:UnspecifiedMatching OMIM:118485 CYP11A1 skos:exactMatch ncbigene:1583 semapv:UnspecifiedMatching -OMIM:118490 CHAT skos:exactMatch hgnc:CHAT semapv:UnspecifiedMatching +OMIM:118490 CHAT skos:exactMatch hgnc.symbol:1912 semapv:UnspecifiedMatching +OMIM:118490 CHAT skos:exactMatch hgnc.symbol:CHAT semapv:UnspecifiedMatching OMIM:118490 CHAT skos:exactMatch ncbigene:1103 semapv:UnspecifiedMatching -OMIM:118491 CHKA skos:exactMatch hgnc:CHKA semapv:UnspecifiedMatching +OMIM:118491 CHKA skos:exactMatch hgnc.symbol:1937 semapv:UnspecifiedMatching +OMIM:118491 CHKA skos:exactMatch hgnc.symbol:CHKA semapv:UnspecifiedMatching OMIM:118491 CHKA skos:exactMatch ncbigene:1119 semapv:UnspecifiedMatching OMIM:118493 CHRM2 skos:exactMatch UMLS:C1413400 semapv:UnspecifiedMatching -OMIM:118493 CHRM2 skos:exactMatch hgnc:CHRM2 semapv:UnspecifiedMatching +OMIM:118493 CHRM2 skos:exactMatch hgnc.symbol:1951 semapv:UnspecifiedMatching +OMIM:118493 CHRM2 skos:exactMatch hgnc.symbol:CHRM2 semapv:UnspecifiedMatching OMIM:118493 CHRM2 skos:exactMatch ncbigene:1129 semapv:UnspecifiedMatching OMIM:118494 CHRM3 skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching OMIM:118494 CHRM3 skos:exactMatch UMLS:C1332759 semapv:UnspecifiedMatching -OMIM:118494 CHRM3 skos:exactMatch hgnc:CHRM3 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch hgnc.symbol:1952 semapv:UnspecifiedMatching +OMIM:118494 CHRM3 skos:exactMatch hgnc.symbol:CHRM3 semapv:UnspecifiedMatching OMIM:118494 CHRM3 skos:exactMatch ncbigene:1131 semapv:UnspecifiedMatching -OMIM:118495 CHRM4 skos:exactMatch hgnc:CHRM4 semapv:UnspecifiedMatching +OMIM:118495 CHRM4 skos:exactMatch hgnc.symbol:1953 semapv:UnspecifiedMatching +OMIM:118495 CHRM4 skos:exactMatch hgnc.symbol:CHRM4 semapv:UnspecifiedMatching OMIM:118495 CHRM4 skos:exactMatch ncbigene:1132 semapv:UnspecifiedMatching -OMIM:118496 CHRM5 skos:exactMatch hgnc:CHRM5 semapv:UnspecifiedMatching +OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:1954 semapv:UnspecifiedMatching +OMIM:118496 CHRM5 skos:exactMatch hgnc.symbol:CHRM5 semapv:UnspecifiedMatching OMIM:118496 CHRM5 skos:exactMatch ncbigene:1133 semapv:UnspecifiedMatching -OMIM:118502 CHRNA2 skos:exactMatch hgnc:CHRNA2 semapv:UnspecifiedMatching +OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:1956 semapv:UnspecifiedMatching +OMIM:118502 CHRNA2 skos:exactMatch hgnc.symbol:CHRNA2 semapv:UnspecifiedMatching OMIM:118502 CHRNA2 skos:exactMatch ncbigene:1135 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1413403 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C2677571 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching -OMIM:118503 CHRNA3 skos:exactMatch hgnc:CHRNA3 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:1957 semapv:UnspecifiedMatching +OMIM:118503 CHRNA3 skos:exactMatch hgnc.symbol:CHRNA3 semapv:UnspecifiedMatching OMIM:118503 CHRNA3 skos:exactMatch ncbigene:1136 semapv:UnspecifiedMatching -OMIM:118504 CHRNA4 skos:exactMatch hgnc:CHRNA4 semapv:UnspecifiedMatching +OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:1958 semapv:UnspecifiedMatching +OMIM:118504 CHRNA4 skos:exactMatch hgnc.symbol:CHRNA4 semapv:UnspecifiedMatching OMIM:118504 CHRNA4 skos:exactMatch ncbigene:1137 semapv:UnspecifiedMatching -OMIM:118505 CHRNA5 skos:exactMatch hgnc:CHRNA5 semapv:UnspecifiedMatching +OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:1959 semapv:UnspecifiedMatching +OMIM:118505 CHRNA5 skos:exactMatch hgnc.symbol:CHRNA5 semapv:UnspecifiedMatching OMIM:118505 CHRNA5 skos:exactMatch ncbigene:1138 semapv:UnspecifiedMatching -OMIM:118507 CHRNB2 skos:exactMatch hgnc:CHRNB2 semapv:UnspecifiedMatching +OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:1962 semapv:UnspecifiedMatching +OMIM:118507 CHRNB2 skos:exactMatch hgnc.symbol:CHRNB2 semapv:UnspecifiedMatching OMIM:118507 CHRNB2 skos:exactMatch ncbigene:1141 semapv:UnspecifiedMatching -OMIM:118508 CHRNB3 skos:exactMatch hgnc:CHRNB3 semapv:UnspecifiedMatching +OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:1963 semapv:UnspecifiedMatching +OMIM:118508 CHRNB3 skos:exactMatch hgnc.symbol:CHRNB3 semapv:UnspecifiedMatching OMIM:118508 CHRNB3 skos:exactMatch ncbigene:1142 semapv:UnspecifiedMatching -OMIM:118509 CHRNB4 skos:exactMatch hgnc:CHRNB4 semapv:UnspecifiedMatching +OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:1964 semapv:UnspecifiedMatching +OMIM:118509 CHRNB4 skos:exactMatch hgnc.symbol:CHRNB4 semapv:UnspecifiedMatching OMIM:118509 CHRNB4 skos:exactMatch ncbigene:1143 semapv:UnspecifiedMatching -OMIM:118510 CHRM1 skos:exactMatch hgnc:CHRM1 semapv:UnspecifiedMatching +OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:1950 semapv:UnspecifiedMatching +OMIM:118510 CHRM1 skos:exactMatch hgnc.symbol:CHRM1 semapv:UnspecifiedMatching OMIM:118510 CHRM1 skos:exactMatch ncbigene:1128 semapv:UnspecifiedMatching OMIM:118511 CHRNA7 skos:exactMatch UMLS:C1413406 semapv:UnspecifiedMatching -OMIM:118511 CHRNA7 skos:exactMatch hgnc:CHRNA7 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:1960 semapv:UnspecifiedMatching +OMIM:118511 CHRNA7 skos:exactMatch hgnc.symbol:CHRNA7 semapv:UnspecifiedMatching OMIM:118511 CHRNA7 skos:exactMatch ncbigene:1139 semapv:UnspecifiedMatching +OMIM:118600 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching OMIM:118600 chondrocalcinosis 2 skos:exactMatch UMLS:C0856830 semapv:UnspecifiedMatching -OMIM:118600 chondrocalcinosis 2 skos:exactMatch orphanet.ordo:1416 semapv:UnspecifiedMatching -OMIM:118661 VCAN skos:exactMatch hgnc:VCAN semapv:UnspecifiedMatching +OMIM:118661 VCAN skos:exactMatch hgnc.symbol:2464 semapv:UnspecifiedMatching +OMIM:118661 VCAN skos:exactMatch hgnc.symbol:VCAN semapv:UnspecifiedMatching OMIM:118661 VCAN skos:exactMatch ncbigene:1462 semapv:UnspecifiedMatching +OMIM:118700 chorea, benign hereditary skos:exactMatch Orphanet:1429 semapv:UnspecifiedMatching OMIM:118700 chorea, benign hereditary skos:exactMatch UMLS:C0393584 semapv:UnspecifiedMatching -OMIM:118700 chorea, benign hereditary skos:exactMatch orphanet.ordo:1429 semapv:UnspecifiedMatching +OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch Orphanet:98810 semapv:UnspecifiedMatching OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching -OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch orphanet.ordo:98810 semapv:UnspecifiedMatching -OMIM:118820 CSH2 skos:exactMatch hgnc:CSH2 semapv:UnspecifiedMatching +OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:2441 semapv:UnspecifiedMatching +OMIM:118820 CSH2 skos:exactMatch hgnc.symbol:CSH2 semapv:UnspecifiedMatching OMIM:118820 CSH2 skos:exactMatch ncbigene:1443 semapv:UnspecifiedMatching -OMIM:118825 CHML skos:exactMatch hgnc:CHML semapv:UnspecifiedMatching +OMIM:118825 CHML skos:exactMatch hgnc.symbol:1941 semapv:UnspecifiedMatching +OMIM:118825 CHML skos:exactMatch hgnc.symbol:CHML semapv:UnspecifiedMatching OMIM:118825 CHML skos:exactMatch ncbigene:1122 semapv:UnspecifiedMatching -OMIM:118850 CGA skos:exactMatch hgnc:CGA semapv:UnspecifiedMatching +OMIM:118850 CGA skos:exactMatch hgnc.symbol:1885 semapv:UnspecifiedMatching +OMIM:118850 CGA skos:exactMatch hgnc.symbol:CGA semapv:UnspecifiedMatching OMIM:118850 CGA skos:exactMatch ncbigene:1081 semapv:UnspecifiedMatching -OMIM:118860 CGB skos:exactMatch hgnc:CGB3 semapv:UnspecifiedMatching +OMIM:118860 CGB skos:exactMatch hgnc.symbol:1886 semapv:UnspecifiedMatching +OMIM:118860 CGB skos:exactMatch hgnc.symbol:CGB3 semapv:UnspecifiedMatching OMIM:118860 CGB skos:exactMatch ncbigene:1082 semapv:UnspecifiedMatching -OMIM:118888 CTRL skos:exactMatch hgnc:CTRL semapv:UnspecifiedMatching +OMIM:118888 CTRL skos:exactMatch hgnc.symbol:2524 semapv:UnspecifiedMatching +OMIM:118888 CTRL skos:exactMatch hgnc.symbol:CTRL semapv:UnspecifiedMatching OMIM:118888 CTRL skos:exactMatch ncbigene:1506 semapv:UnspecifiedMatching -OMIM:118890 CTRB1 skos:exactMatch hgnc:CTRB1 semapv:UnspecifiedMatching +OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:2521 semapv:UnspecifiedMatching +OMIM:118890 CTRB1 skos:exactMatch hgnc.symbol:CTRB1 semapv:UnspecifiedMatching OMIM:118890 CTRB1 skos:exactMatch ncbigene:1504 semapv:UnspecifiedMatching -OMIM:118910 CHGA skos:exactMatch hgnc:CHGA semapv:UnspecifiedMatching +OMIM:118910 CHGA skos:exactMatch hgnc.symbol:1929 semapv:UnspecifiedMatching +OMIM:118910 CHGA skos:exactMatch hgnc.symbol:CHGA semapv:UnspecifiedMatching OMIM:118910 CHGA skos:exactMatch ncbigene:1113 semapv:UnspecifiedMatching -OMIM:118920 CHGB skos:exactMatch hgnc:CHGB semapv:UnspecifiedMatching +OMIM:118920 CHGB skos:exactMatch hgnc.symbol:1930 semapv:UnspecifiedMatching +OMIM:118920 CHGB skos:exactMatch hgnc.symbol:CHGB semapv:UnspecifiedMatching OMIM:118920 CHGB skos:exactMatch ncbigene:1114 semapv:UnspecifiedMatching -OMIM:118930 SCG2 skos:exactMatch hgnc:SCG2 semapv:UnspecifiedMatching +OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:10575 semapv:UnspecifiedMatching +OMIM:118930 SCG2 skos:exactMatch hgnc.symbol:SCG2 semapv:UnspecifiedMatching OMIM:118930 SCG2 skos:exactMatch ncbigene:7857 semapv:UnspecifiedMatching -OMIM:118938 CMA1 skos:exactMatch hgnc:CMA1 semapv:UnspecifiedMatching +OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:2097 semapv:UnspecifiedMatching +OMIM:118938 CMA1 skos:exactMatch hgnc.symbol:CMA1 semapv:UnspecifiedMatching OMIM:118938 CMA1 skos:exactMatch ncbigene:1215 semapv:UnspecifiedMatching -OMIM:118943 chymosin pseudogene skos:exactMatch hgnc:CYMP semapv:UnspecifiedMatching -OMIM:118945 CNTF skos:exactMatch hgnc:CNTF semapv:UnspecifiedMatching +OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:2588 semapv:UnspecifiedMatching +OMIM:118943 chymosin pseudogene skos:exactMatch hgnc.symbol:CYMP semapv:UnspecifiedMatching +OMIM:118945 CNTF skos:exactMatch hgnc.symbol:2169 semapv:UnspecifiedMatching +OMIM:118945 CNTF skos:exactMatch hgnc.symbol:CNTF semapv:UnspecifiedMatching OMIM:118945 CNTF skos:exactMatch ncbigene:1270 semapv:UnspecifiedMatching -OMIM:118946 CNTFR skos:exactMatch hgnc:CNTFR semapv:UnspecifiedMatching +OMIM:118946 CNTFR skos:exactMatch hgnc.symbol:2170 semapv:UnspecifiedMatching +OMIM:118946 CNTFR skos:exactMatch hgnc.symbol:CNTFR semapv:UnspecifiedMatching OMIM:118946 CNTFR skos:exactMatch ncbigene:1271 semapv:UnspecifiedMatching OMIM:118950 CS skos:exactMatch UMLS:C1413745 semapv:UnspecifiedMatching -OMIM:118950 CS skos:exactMatch hgnc:CS semapv:UnspecifiedMatching +OMIM:118950 CS skos:exactMatch hgnc.symbol:2422 semapv:UnspecifiedMatching +OMIM:118950 CS skos:exactMatch hgnc.symbol:CS semapv:UnspecifiedMatching OMIM:118950 CS skos:exactMatch ncbigene:1431 semapv:UnspecifiedMatching -OMIM:118955 CLTC skos:exactMatch hgnc:CLTC semapv:UnspecifiedMatching +OMIM:118955 CLTC skos:exactMatch hgnc.symbol:2092 semapv:UnspecifiedMatching +OMIM:118955 CLTC skos:exactMatch hgnc.symbol:CLTC semapv:UnspecifiedMatching OMIM:118955 CLTC skos:exactMatch ncbigene:1213 semapv:UnspecifiedMatching -OMIM:118960 CLTA skos:exactMatch hgnc:CLTA semapv:UnspecifiedMatching +OMIM:118960 CLTA skos:exactMatch hgnc.symbol:2090 semapv:UnspecifiedMatching +OMIM:118960 CLTA skos:exactMatch hgnc.symbol:CLTA semapv:UnspecifiedMatching OMIM:118960 CLTA skos:exactMatch ncbigene:1211 semapv:UnspecifiedMatching -OMIM:118970 CLTB skos:exactMatch hgnc:CLTB semapv:UnspecifiedMatching +OMIM:118970 CLTB skos:exactMatch hgnc.symbol:2091 semapv:UnspecifiedMatching +OMIM:118970 CLTB skos:exactMatch hgnc.symbol:CLTB semapv:UnspecifiedMatching OMIM:118970 CLTB skos:exactMatch ncbigene:1212 semapv:UnspecifiedMatching -OMIM:118990 ITPRID2 skos:exactMatch hgnc:ITPRID2 semapv:UnspecifiedMatching +OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:11319 semapv:UnspecifiedMatching +OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:ITPRID2 semapv:UnspecifiedMatching OMIM:118990 ITPRID2 skos:exactMatch ncbigene:6744 semapv:UnspecifiedMatching +OMIM:119500 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching OMIM:119500 popliteal pterygium syndrome skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching -OMIM:119500 popliteal pterygium syndrome skos:exactMatch orphanet.ordo:1300 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:119530 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch orphanet.ordo:141291 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch orphanet.ordo:199302 semapv:UnspecifiedMatching -OMIM:119530 orofacial cleft 1 skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching +OMIM:119900 digital clubbing, isolated congenital skos:exactMatch Orphanet:217059 semapv:UnspecifiedMatching OMIM:119900 digital clubbing, isolated congenital skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching -OMIM:119900 digital clubbing, isolated congenital skos:exactMatch orphanet.ordo:217059 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C1332774 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746547 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746745 semapv:UnspecifiedMatching -OMIM:120070 COL4A3 skos:exactMatch hgnc:COL4A3 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:2204 semapv:UnspecifiedMatching +OMIM:120070 COL4A3 skos:exactMatch hgnc.symbol:COL4A3 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch ncbigene:1285 semapv:UnspecifiedMatching -OMIM:120090 COL4A2 skos:exactMatch hgnc:COL4A2 semapv:UnspecifiedMatching +OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:2203 semapv:UnspecifiedMatching +OMIM:120090 COL4A2 skos:exactMatch hgnc.symbol:COL4A2 semapv:UnspecifiedMatching OMIM:120090 COL4A2 skos:exactMatch ncbigene:1284 semapv:UnspecifiedMatching -OMIM:120105 CLPS skos:exactMatch hgnc:CLPS semapv:UnspecifiedMatching +OMIM:120105 CLPS skos:exactMatch hgnc.symbol:2085 semapv:UnspecifiedMatching +OMIM:120105 CLPS skos:exactMatch hgnc.symbol:CLPS semapv:UnspecifiedMatching OMIM:120105 CLPS skos:exactMatch ncbigene:1208 semapv:UnspecifiedMatching -OMIM:120110 COL10A1 skos:exactMatch hgnc:COL10A1 semapv:UnspecifiedMatching +OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:2185 semapv:UnspecifiedMatching +OMIM:120110 COL10A1 skos:exactMatch hgnc.symbol:COL10A1 semapv:UnspecifiedMatching OMIM:120110 COL10A1 skos:exactMatch ncbigene:1300 semapv:UnspecifiedMatching -OMIM:120120 COL7A1 skos:exactMatch hgnc:COL7A1 semapv:UnspecifiedMatching +OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:2214 semapv:UnspecifiedMatching +OMIM:120120 COL7A1 skos:exactMatch hgnc.symbol:COL7A1 semapv:UnspecifiedMatching OMIM:120120 COL7A1 skos:exactMatch ncbigene:1294 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C1413582 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C1867327 semapv:UnspecifiedMatching @@ -1215,9 +1613,11 @@ OMIM:120130 COL4A1 skos:exactMatch UMLS:C3281105 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193157 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C5193158 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch UMLS:C5231411 semapv:UnspecifiedMatching -OMIM:120130 COL4A1 skos:exactMatch hgnc:COL4A1 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:2202 semapv:UnspecifiedMatching +OMIM:120130 COL4A1 skos:exactMatch hgnc.symbol:COL4A1 semapv:UnspecifiedMatching OMIM:120130 COL4A1 skos:exactMatch ncbigene:1282 semapv:UnspecifiedMatching -OMIM:120131 COL4A4 skos:exactMatch hgnc:COL4A4 semapv:UnspecifiedMatching +OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:2206 semapv:UnspecifiedMatching +OMIM:120131 COL4A4 skos:exactMatch hgnc.symbol:COL4A4 semapv:UnspecifiedMatching OMIM:120131 COL4A4 skos:exactMatch ncbigene:1286 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C0023234 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching @@ -1237,7 +1637,8 @@ OMIM:120140 COL2A1 skos:exactMatch UMLS:C2020284 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C2745959 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C4225640 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch UMLS:C4551562 semapv:UnspecifiedMatching -OMIM:120140 COL2A1 skos:exactMatch hgnc:COL2A1 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:2200 semapv:UnspecifiedMatching +OMIM:120140 COL2A1 skos:exactMatch hgnc.symbol:COL2A1 semapv:UnspecifiedMatching OMIM:120140 COL2A1 skos:exactMatch ncbigene:1280 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0020497 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C0023931 semapv:UnspecifiedMatching @@ -1254,7 +1655,8 @@ OMIM:120150 COL1A1 skos:exactMatch UMLS:C4015952 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C4225429 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching -OMIM:120150 COL1A1 skos:exactMatch hgnc:COL1A1 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:2197 semapv:UnspecifiedMatching +OMIM:120150 COL1A1 skos:exactMatch hgnc.symbol:COL1A1 semapv:UnspecifiedMatching OMIM:120150 COL1A1 skos:exactMatch ncbigene:1277 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C0029458 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C0268358 semapv:UnspecifiedMatching @@ -1268,96 +1670,134 @@ OMIM:120160 COL1A2 skos:exactMatch UMLS:C4303789 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310980 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C4310981 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching -OMIM:120160 COL1A2 skos:exactMatch hgnc:COL1A2 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:2198 semapv:UnspecifiedMatching +OMIM:120160 COL1A2 skos:exactMatch hgnc.symbol:COL1A2 semapv:UnspecifiedMatching OMIM:120160 COL1A2 skos:exactMatch ncbigene:1278 semapv:UnspecifiedMatching -OMIM:120165 COL19A1 skos:exactMatch hgnc:COL19A1 semapv:UnspecifiedMatching +OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:2196 semapv:UnspecifiedMatching +OMIM:120165 COL19A1 skos:exactMatch hgnc.symbol:COL19A1 semapv:UnspecifiedMatching OMIM:120165 COL19A1 skos:exactMatch ncbigene:1310 semapv:UnspecifiedMatching -OMIM:120180 COL3A1 skos:exactMatch hgnc:COL3A1 semapv:UnspecifiedMatching +OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:2201 semapv:UnspecifiedMatching +OMIM:120180 COL3A1 skos:exactMatch hgnc.symbol:COL3A1 semapv:UnspecifiedMatching OMIM:120180 COL3A1 skos:exactMatch ncbigene:1281 semapv:UnspecifiedMatching -OMIM:120190 COL5A2 skos:exactMatch hgnc:COL5A2 semapv:UnspecifiedMatching +OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:2210 semapv:UnspecifiedMatching +OMIM:120190 COL5A2 skos:exactMatch hgnc.symbol:COL5A2 semapv:UnspecifiedMatching OMIM:120190 COL5A2 skos:exactMatch ncbigene:1290 semapv:UnspecifiedMatching -OMIM:120210 COL9A1 skos:exactMatch hgnc:COL9A1 semapv:UnspecifiedMatching +OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:2217 semapv:UnspecifiedMatching +OMIM:120210 COL9A1 skos:exactMatch hgnc.symbol:COL9A1 semapv:UnspecifiedMatching OMIM:120210 COL9A1 skos:exactMatch ncbigene:1297 semapv:UnspecifiedMatching -OMIM:120215 COL5A1 skos:exactMatch hgnc:COL5A1 semapv:UnspecifiedMatching +OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:2209 semapv:UnspecifiedMatching +OMIM:120215 COL5A1 skos:exactMatch hgnc.symbol:COL5A1 semapv:UnspecifiedMatching OMIM:120215 COL5A1 skos:exactMatch ncbigene:1289 semapv:UnspecifiedMatching -OMIM:120216 COL5A3 skos:exactMatch hgnc:COL5A3 semapv:UnspecifiedMatching +OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:14864 semapv:UnspecifiedMatching +OMIM:120216 COL5A3 skos:exactMatch hgnc.symbol:COL5A3 semapv:UnspecifiedMatching OMIM:120216 COL5A3 skos:exactMatch ncbigene:50509 semapv:UnspecifiedMatching -OMIM:120220 COL6A1 skos:exactMatch hgnc:COL6A1 semapv:UnspecifiedMatching +OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:2211 semapv:UnspecifiedMatching +OMIM:120220 COL6A1 skos:exactMatch hgnc.symbol:COL6A1 semapv:UnspecifiedMatching OMIM:120220 COL6A1 skos:exactMatch ncbigene:1291 semapv:UnspecifiedMatching -OMIM:120240 COL6A2 skos:exactMatch hgnc:COL6A2 semapv:UnspecifiedMatching +OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:2212 semapv:UnspecifiedMatching +OMIM:120240 COL6A2 skos:exactMatch hgnc.symbol:COL6A2 semapv:UnspecifiedMatching OMIM:120240 COL6A2 skos:exactMatch ncbigene:1292 semapv:UnspecifiedMatching -OMIM:120250 COL6A3 skos:exactMatch hgnc:COL6A3 semapv:UnspecifiedMatching +OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:2213 semapv:UnspecifiedMatching +OMIM:120250 COL6A3 skos:exactMatch hgnc.symbol:COL6A3 semapv:UnspecifiedMatching OMIM:120250 COL6A3 skos:exactMatch ncbigene:1293 semapv:UnspecifiedMatching -OMIM:120251 COL8A1 skos:exactMatch hgnc:COL8A1 semapv:UnspecifiedMatching +OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:2215 semapv:UnspecifiedMatching +OMIM:120251 COL8A1 skos:exactMatch hgnc.symbol:COL8A1 semapv:UnspecifiedMatching OMIM:120251 COL8A1 skos:exactMatch ncbigene:1295 semapv:UnspecifiedMatching -OMIM:120252 COL8A2 skos:exactMatch hgnc:COL8A2 semapv:UnspecifiedMatching +OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:2216 semapv:UnspecifiedMatching +OMIM:120252 COL8A2 skos:exactMatch hgnc.symbol:COL8A2 semapv:UnspecifiedMatching OMIM:120252 COL8A2 skos:exactMatch ncbigene:1296 semapv:UnspecifiedMatching -OMIM:120260 COL9A2 skos:exactMatch hgnc:COL9A2 semapv:UnspecifiedMatching +OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:2218 semapv:UnspecifiedMatching +OMIM:120260 COL9A2 skos:exactMatch hgnc.symbol:COL9A2 semapv:UnspecifiedMatching OMIM:120260 COL9A2 skos:exactMatch ncbigene:1298 semapv:UnspecifiedMatching -OMIM:120270 COL9A3 skos:exactMatch hgnc:COL9A3 semapv:UnspecifiedMatching +OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:2219 semapv:UnspecifiedMatching +OMIM:120270 COL9A3 skos:exactMatch hgnc.symbol:COL9A3 semapv:UnspecifiedMatching OMIM:120270 COL9A3 skos:exactMatch ncbigene:1299 semapv:UnspecifiedMatching -OMIM:120280 COL11A1 skos:exactMatch hgnc:COL11A1 semapv:UnspecifiedMatching +OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:2186 semapv:UnspecifiedMatching +OMIM:120280 COL11A1 skos:exactMatch hgnc.symbol:COL11A1 semapv:UnspecifiedMatching OMIM:120280 COL11A1 skos:exactMatch ncbigene:1301 semapv:UnspecifiedMatching -OMIM:120290 COL11A2 skos:exactMatch hgnc:COL11A2 semapv:UnspecifiedMatching +OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:2187 semapv:UnspecifiedMatching +OMIM:120290 COL11A2 skos:exactMatch hgnc.symbol:COL11A2 semapv:UnspecifiedMatching OMIM:120290 COL11A2 skos:exactMatch ncbigene:1302 semapv:UnspecifiedMatching -OMIM:120320 COL12A1 skos:exactMatch hgnc:COL12A1 semapv:UnspecifiedMatching +OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:2188 semapv:UnspecifiedMatching +OMIM:120320 COL12A1 skos:exactMatch hgnc.symbol:COL12A1 semapv:UnspecifiedMatching OMIM:120320 COL12A1 skos:exactMatch ncbigene:1303 semapv:UnspecifiedMatching -OMIM:120324 COL14A1 skos:exactMatch hgnc:COL14A1 semapv:UnspecifiedMatching +OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:2191 semapv:UnspecifiedMatching +OMIM:120324 COL14A1 skos:exactMatch hgnc.symbol:COL14A1 semapv:UnspecifiedMatching OMIM:120324 COL14A1 skos:exactMatch ncbigene:7373 semapv:UnspecifiedMatching -OMIM:120325 COL15A1 skos:exactMatch hgnc:COL15A1 semapv:UnspecifiedMatching +OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:2192 semapv:UnspecifiedMatching +OMIM:120325 COL15A1 skos:exactMatch hgnc.symbol:COL15A1 semapv:UnspecifiedMatching OMIM:120325 COL15A1 skos:exactMatch ncbigene:1306 semapv:UnspecifiedMatching -OMIM:120326 COL16A1 skos:exactMatch hgnc:COL16A1 semapv:UnspecifiedMatching +OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:2193 semapv:UnspecifiedMatching +OMIM:120326 COL16A1 skos:exactMatch hgnc.symbol:COL16A1 semapv:UnspecifiedMatching OMIM:120326 COL16A1 skos:exactMatch ncbigene:1307 semapv:UnspecifiedMatching OMIM:120328 COL18A1 skos:exactMatch UMLS:C1332771 semapv:UnspecifiedMatching OMIM:120328 COL18A1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching OMIM:120328 COL18A1 skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching -OMIM:120328 COL18A1 skos:exactMatch hgnc:COL18A1 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch hgnc.symbol:2195 semapv:UnspecifiedMatching +OMIM:120328 COL18A1 skos:exactMatch hgnc.symbol:COL18A1 semapv:UnspecifiedMatching OMIM:120328 COL18A1 skos:exactMatch ncbigene:80781 semapv:UnspecifiedMatching -OMIM:120340 COL1AR skos:exactMatch hgnc:COL1AR semapv:UnspecifiedMatching +OMIM:120340 COL1AR skos:exactMatch hgnc.symbol:2199 semapv:UnspecifiedMatching +OMIM:120340 COL1AR skos:exactMatch hgnc.symbol:COL1AR semapv:UnspecifiedMatching OMIM:120340 COL1AR skos:exactMatch ncbigene:1279 semapv:UnspecifiedMatching -OMIM:120350 COL13A1 skos:exactMatch hgnc:COL13A1 semapv:UnspecifiedMatching +OMIM:120350 COL13A1 skos:exactMatch hgnc.symbol:2190 semapv:UnspecifiedMatching +OMIM:120350 COL13A1 skos:exactMatch hgnc.symbol:COL13A1 semapv:UnspecifiedMatching OMIM:120350 COL13A1 skos:exactMatch ncbigene:1305 semapv:UnspecifiedMatching -OMIM:120353 MMP1 skos:exactMatch hgnc:MMP1 semapv:UnspecifiedMatching +OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:7155 semapv:UnspecifiedMatching +OMIM:120353 MMP1 skos:exactMatch hgnc.symbol:MMP1 semapv:UnspecifiedMatching OMIM:120353 MMP1 skos:exactMatch ncbigene:4312 semapv:UnspecifiedMatching -OMIM:120355 MMP8 skos:exactMatch hgnc:MMP8 semapv:UnspecifiedMatching +OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:7175 semapv:UnspecifiedMatching +OMIM:120355 MMP8 skos:exactMatch hgnc.symbol:MMP8 semapv:UnspecifiedMatching OMIM:120355 MMP8 skos:exactMatch ncbigene:4317 semapv:UnspecifiedMatching OMIM:120360 MMP2 skos:exactMatch UMLS:C1334522 semapv:UnspecifiedMatching OMIM:120360 MMP2 skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching -OMIM:120360 MMP2 skos:exactMatch hgnc:MMP2 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:7166 semapv:UnspecifiedMatching +OMIM:120360 MMP2 skos:exactMatch hgnc.symbol:MMP2 semapv:UnspecifiedMatching OMIM:120360 MMP2 skos:exactMatch ncbigene:4313 semapv:UnspecifiedMatching -OMIM:120361 MMP9 skos:exactMatch hgnc:MMP9 semapv:UnspecifiedMatching +OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:7176 semapv:UnspecifiedMatching +OMIM:120361 MMP9 skos:exactMatch hgnc.symbol:MMP9 semapv:UnspecifiedMatching OMIM:120361 MMP9 skos:exactMatch ncbigene:4318 semapv:UnspecifiedMatching -OMIM:120420 CSF1 skos:exactMatch hgnc:CSF1 semapv:UnspecifiedMatching +OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:2432 semapv:UnspecifiedMatching +OMIM:120420 CSF1 skos:exactMatch hgnc.symbol:CSF1 semapv:UnspecifiedMatching OMIM:120420 CSF1 skos:exactMatch ncbigene:1435 semapv:UnspecifiedMatching +OMIM:120435 lynch syndrome 1 skos:exactMatch Orphanet:144 semapv:UnspecifiedMatching OMIM:120435 lynch syndrome 1 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching -OMIM:120435 lynch syndrome 1 skos:exactMatch orphanet.ordo:144 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C0879389 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C1333991 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C4015969 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching -OMIM:120436 MLH1 skos:exactMatch hgnc:MLH1 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:7127 semapv:UnspecifiedMatching +OMIM:120436 MLH1 skos:exactMatch hgnc.symbol:MLH1 semapv:UnspecifiedMatching OMIM:120436 MLH1 skos:exactMatch ncbigene:4292 semapv:UnspecifiedMatching -OMIM:120470 DCC skos:exactMatch hgnc:DCC semapv:UnspecifiedMatching +OMIM:120470 DCC skos:exactMatch hgnc.symbol:2701 semapv:UnspecifiedMatching +OMIM:120470 DCC skos:exactMatch hgnc.symbol:DCC semapv:UnspecifiedMatching OMIM:120470 DCC skos:exactMatch ncbigene:1630 semapv:UnspecifiedMatching -OMIM:120520 MME skos:exactMatch hgnc:MME semapv:UnspecifiedMatching +OMIM:120520 MME skos:exactMatch hgnc.symbol:7154 semapv:UnspecifiedMatching +OMIM:120520 MME skos:exactMatch hgnc.symbol:MME semapv:UnspecifiedMatching OMIM:120520 MME skos:exactMatch ncbigene:4311 semapv:UnspecifiedMatching -OMIM:120550 C1QA skos:exactMatch hgnc:C1QA semapv:UnspecifiedMatching +OMIM:120550 C1QA skos:exactMatch hgnc.symbol:1241 semapv:UnspecifiedMatching +OMIM:120550 C1QA skos:exactMatch hgnc.symbol:C1QA semapv:UnspecifiedMatching OMIM:120550 C1QA skos:exactMatch ncbigene:712 semapv:UnspecifiedMatching -OMIM:120570 C1QB skos:exactMatch hgnc:C1QB semapv:UnspecifiedMatching +OMIM:120570 C1QB skos:exactMatch hgnc.symbol:1242 semapv:UnspecifiedMatching +OMIM:120570 C1QB skos:exactMatch hgnc.symbol:C1QB semapv:UnspecifiedMatching OMIM:120570 C1QB skos:exactMatch ncbigene:713 semapv:UnspecifiedMatching -OMIM:120575 C1QC skos:exactMatch hgnc:C1QC semapv:UnspecifiedMatching +OMIM:120575 C1QC skos:exactMatch hgnc.symbol:1245 semapv:UnspecifiedMatching +OMIM:120575 C1QC skos:exactMatch hgnc.symbol:C1QC semapv:UnspecifiedMatching OMIM:120575 C1QC skos:exactMatch ncbigene:714 semapv:UnspecifiedMatching -OMIM:120577 C1QR1 skos:exactMatch hgnc:CD93 semapv:UnspecifiedMatching +OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:15855 semapv:UnspecifiedMatching +OMIM:120577 C1QR1 skos:exactMatch hgnc.symbol:CD93 semapv:UnspecifiedMatching OMIM:120577 C1QR1 skos:exactMatch ncbigene:22918 semapv:UnspecifiedMatching -OMIM:120580 C1S skos:exactMatch hgnc:C1S semapv:UnspecifiedMatching +OMIM:120580 C1S skos:exactMatch hgnc.symbol:1247 semapv:UnspecifiedMatching +OMIM:120580 C1S skos:exactMatch hgnc.symbol:C1S semapv:UnspecifiedMatching OMIM:120580 C1S skos:exactMatch ncbigene:716 semapv:UnspecifiedMatching OMIM:120620 CR1 skos:exactMatch UMLS:C1413694 semapv:UnspecifiedMatching OMIM:120620 CR1 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching -OMIM:120620 CR1 skos:exactMatch hgnc:CR1 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch hgnc.symbol:2334 semapv:UnspecifiedMatching +OMIM:120620 CR1 skos:exactMatch hgnc.symbol:CR1 semapv:UnspecifiedMatching OMIM:120620 CR1 skos:exactMatch ncbigene:1378 semapv:UnspecifiedMatching -OMIM:120650 CR2 skos:exactMatch hgnc:CR2 semapv:UnspecifiedMatching +OMIM:120650 CR2 skos:exactMatch hgnc.symbol:2336 semapv:UnspecifiedMatching +OMIM:120650 CR2 skos:exactMatch hgnc.symbol:CR2 semapv:UnspecifiedMatching OMIM:120650 CR2 skos:exactMatch ncbigene:1380 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C1332655 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C1332656 semapv:UnspecifiedMatching @@ -1365,40 +1805,54 @@ OMIM:120700 C3 skos:exactMatch UMLS:C2752037 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C4015971 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C4015972 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch UMLS:C4017429 semapv:UnspecifiedMatching -OMIM:120700 C3 skos:exactMatch hgnc:C3 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch hgnc.symbol:1318 semapv:UnspecifiedMatching +OMIM:120700 C3 skos:exactMatch hgnc.symbol:C3 semapv:UnspecifiedMatching OMIM:120700 C3 skos:exactMatch ncbigene:718 semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch UMLS:C1412999 semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch UMLS:C3280642 semapv:UnspecifiedMatching -OMIM:120810 C4A skos:exactMatch hgnc:C4A semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch hgnc.symbol:1323 semapv:UnspecifiedMatching +OMIM:120810 C4A skos:exactMatch hgnc.symbol:C4A semapv:UnspecifiedMatching OMIM:120810 C4A skos:exactMatch ncbigene:720 semapv:UnspecifiedMatching OMIM:120820 C4B skos:exactMatch UMLS:C1413000 semapv:UnspecifiedMatching -OMIM:120820 C4B skos:exactMatch hgnc:C4B semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch hgnc.symbol:1324 semapv:UnspecifiedMatching +OMIM:120820 C4B skos:exactMatch hgnc.symbol:C4B semapv:UnspecifiedMatching OMIM:120820 C4B skos:exactMatch ncbigene:721 semapv:UnspecifiedMatching -OMIM:120830 C4BPA skos:exactMatch hgnc:C4BPA semapv:UnspecifiedMatching +OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:1325 semapv:UnspecifiedMatching +OMIM:120830 C4BPA skos:exactMatch hgnc.symbol:C4BPA semapv:UnspecifiedMatching OMIM:120830 C4BPA skos:exactMatch ncbigene:722 semapv:UnspecifiedMatching -OMIM:120831 C4BPB skos:exactMatch hgnc:C4BPB semapv:UnspecifiedMatching +OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:1328 semapv:UnspecifiedMatching +OMIM:120831 C4BPB skos:exactMatch hgnc.symbol:C4BPB semapv:UnspecifiedMatching OMIM:120831 C4BPB skos:exactMatch ncbigene:725 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch UMLS:C0343047 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch UMLS:C1367710 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch UMLS:C3810402 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:120900 C5 skos:exactMatch hgnc:C5 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch hgnc.symbol:1331 semapv:UnspecifiedMatching +OMIM:120900 C5 skos:exactMatch hgnc.symbol:C5 semapv:UnspecifiedMatching OMIM:120900 C5 skos:exactMatch ncbigene:727 semapv:UnspecifiedMatching -OMIM:120920 CD46 skos:exactMatch hgnc:CD46 semapv:UnspecifiedMatching +OMIM:120920 CD46 skos:exactMatch hgnc.symbol:6953 semapv:UnspecifiedMatching +OMIM:120920 CD46 skos:exactMatch hgnc.symbol:CD46 semapv:UnspecifiedMatching OMIM:120920 CD46 skos:exactMatch ncbigene:4179 semapv:UnspecifiedMatching -OMIM:120930 C8G skos:exactMatch hgnc:C8G semapv:UnspecifiedMatching +OMIM:120930 C8G skos:exactMatch hgnc.symbol:1354 semapv:UnspecifiedMatching +OMIM:120930 C8G skos:exactMatch hgnc.symbol:C8G semapv:UnspecifiedMatching OMIM:120930 C8G skos:exactMatch ncbigene:733 semapv:UnspecifiedMatching -OMIM:120940 C9 skos:exactMatch hgnc:C9 semapv:UnspecifiedMatching +OMIM:120940 C9 skos:exactMatch hgnc.symbol:1358 semapv:UnspecifiedMatching +OMIM:120940 C9 skos:exactMatch hgnc.symbol:C9 semapv:UnspecifiedMatching OMIM:120940 C9 skos:exactMatch ncbigene:735 semapv:UnspecifiedMatching -OMIM:120950 C8A skos:exactMatch hgnc:C8A semapv:UnspecifiedMatching +OMIM:120950 C8A skos:exactMatch hgnc.symbol:1352 semapv:UnspecifiedMatching +OMIM:120950 C8A skos:exactMatch hgnc.symbol:C8A semapv:UnspecifiedMatching OMIM:120950 C8A skos:exactMatch ncbigene:731 semapv:UnspecifiedMatching -OMIM:120960 C8B skos:exactMatch hgnc:C8B semapv:UnspecifiedMatching +OMIM:120960 C8B skos:exactMatch hgnc.symbol:1353 semapv:UnspecifiedMatching +OMIM:120960 C8B skos:exactMatch hgnc.symbol:C8B semapv:UnspecifiedMatching OMIM:120960 C8B skos:exactMatch ncbigene:732 semapv:UnspecifiedMatching -OMIM:120980 ITGAM skos:exactMatch hgnc:ITGAM semapv:UnspecifiedMatching +OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:6149 semapv:UnspecifiedMatching +OMIM:120980 ITGAM skos:exactMatch hgnc.symbol:ITGAM semapv:UnspecifiedMatching OMIM:120980 ITGAM skos:exactMatch ncbigene:3684 semapv:UnspecifiedMatching -OMIM:121009 CCN2 skos:exactMatch hgnc:CCN2 semapv:UnspecifiedMatching +OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:2500 semapv:UnspecifiedMatching +OMIM:121009 CCN2 skos:exactMatch hgnc.symbol:CCN2 semapv:UnspecifiedMatching OMIM:121009 CCN2 skos:exactMatch ncbigene:1490 semapv:UnspecifiedMatching -OMIM:121010 PPBP skos:exactMatch hgnc:PPBP semapv:UnspecifiedMatching +OMIM:121010 PPBP skos:exactMatch hgnc.symbol:9240 semapv:UnspecifiedMatching +OMIM:121010 PPBP skos:exactMatch hgnc.symbol:PPBP semapv:UnspecifiedMatching OMIM:121010 PPBP skos:exactMatch ncbigene:5473 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching @@ -1411,68 +1865,86 @@ OMIM:121011 GJB2 skos:exactMatch UMLS:C2673760 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C2673761 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch UMLS:C5394556 semapv:UnspecifiedMatching -OMIM:121011 GJB2 skos:exactMatch hgnc:GJB2 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:4284 semapv:UnspecifiedMatching +OMIM:121011 GJB2 skos:exactMatch hgnc.symbol:GJB2 semapv:UnspecifiedMatching OMIM:121011 GJB2 skos:exactMatch ncbigene:2706 semapv:UnspecifiedMatching -OMIM:121012 GJA4 skos:exactMatch hgnc:GJA4 semapv:UnspecifiedMatching +OMIM:121012 GJA4 skos:exactMatch hgnc.symbol:4278 semapv:UnspecifiedMatching +OMIM:121012 GJA4 skos:exactMatch hgnc.symbol:GJA4 semapv:UnspecifiedMatching OMIM:121012 GJA4 skos:exactMatch ncbigene:2701 semapv:UnspecifiedMatching -OMIM:121013 GJA5 skos:exactMatch hgnc:GJA5 semapv:UnspecifiedMatching +OMIM:121013 GJA5 skos:exactMatch hgnc.symbol:4279 semapv:UnspecifiedMatching +OMIM:121013 GJA5 skos:exactMatch hgnc.symbol:GJA5 semapv:UnspecifiedMatching OMIM:121013 GJA5 skos:exactMatch ncbigene:2702 semapv:UnspecifiedMatching -OMIM:121014 GJA1 skos:exactMatch hgnc:GJA1 semapv:UnspecifiedMatching +OMIM:121014 GJA1 skos:exactMatch hgnc.symbol:4274 semapv:UnspecifiedMatching +OMIM:121014 GJA1 skos:exactMatch hgnc.symbol:GJA1 semapv:UnspecifiedMatching OMIM:121014 GJA1 skos:exactMatch ncbigene:2697 semapv:UnspecifiedMatching -OMIM:121015 GJA3 skos:exactMatch hgnc:GJA3 semapv:UnspecifiedMatching +OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:4277 semapv:UnspecifiedMatching +OMIM:121015 GJA3 skos:exactMatch hgnc.symbol:GJA3 semapv:UnspecifiedMatching OMIM:121015 GJA3 skos:exactMatch ncbigene:2700 semapv:UnspecifiedMatching +OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch Orphanet:1949 semapv:UnspecifiedMatching OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching -OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch orphanet.ordo:1949 semapv:UnspecifiedMatching +OMIM:121300 coproporphyria, hereditary skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching OMIM:121300 coproporphyria, hereditary skos:exactMatch UMLS:C0162531 semapv:UnspecifiedMatching -OMIM:121300 coproporphyria, hereditary skos:exactMatch orphanet.ordo:79273 semapv:UnspecifiedMatching -OMIM:121360 CBFB skos:exactMatch hgnc:CBFB semapv:UnspecifiedMatching +OMIM:121360 CBFB skos:exactMatch hgnc.symbol:1539 semapv:UnspecifiedMatching +OMIM:121360 CBFB skos:exactMatch hgnc.symbol:CBFB semapv:UnspecifiedMatching OMIM:121360 CBFB skos:exactMatch ncbigene:865 semapv:UnspecifiedMatching +OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch Orphanet:98956 semapv:UnspecifiedMatching OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching -OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch orphanet.ordo:98956 semapv:UnspecifiedMatching +OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch Orphanet:98962 semapv:UnspecifiedMatching OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching -OMIM:121900 corneal dystrophy, groenouw iia 1 skos:exactMatch orphanet.ordo:98962 semapv:UnspecifiedMatching +OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C0339277 semapv:UnspecifiedMatching OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching -OMIM:122100 corneal dystrophy, meesmann, 1 skos:exactMatch orphanet.ordo:98954 semapv:UnspecifiedMatching +OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching -OMIM:122200 corneal dystrophy, lattice iia 1 skos:exactMatch orphanet.ordo:98964 semapv:UnspecifiedMatching +OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching -OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch orphanet.ordo:199 semapv:UnspecifiedMatching -OMIM:122500 SERPINA6 skos:exactMatch hgnc:SERPINA6 semapv:UnspecifiedMatching +OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:1540 semapv:UnspecifiedMatching +OMIM:122500 SERPINA6 skos:exactMatch hgnc.symbol:SERPINA6 semapv:UnspecifiedMatching OMIM:122500 SERPINA6 skos:exactMatch ncbigene:866 semapv:UnspecifiedMatching -OMIM:122559 CRHBP skos:exactMatch hgnc:CRHBP semapv:UnspecifiedMatching +OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:2356 semapv:UnspecifiedMatching +OMIM:122559 CRHBP skos:exactMatch hgnc.symbol:CRHBP semapv:UnspecifiedMatching OMIM:122559 CRHBP skos:exactMatch ncbigene:1393 semapv:UnspecifiedMatching -OMIM:122560 CRH skos:exactMatch hgnc:CRH semapv:UnspecifiedMatching +OMIM:122560 CRH skos:exactMatch hgnc.symbol:2355 semapv:UnspecifiedMatching +OMIM:122560 CRH skos:exactMatch hgnc.symbol:CRH semapv:UnspecifiedMatching OMIM:122560 CRH skos:exactMatch ncbigene:1392 semapv:UnspecifiedMatching -OMIM:122561 CRHR1 skos:exactMatch hgnc:CRHR1 semapv:UnspecifiedMatching +OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:2357 semapv:UnspecifiedMatching +OMIM:122561 CRHR1 skos:exactMatch hgnc.symbol:CRHR1 semapv:UnspecifiedMatching OMIM:122561 CRHR1 skos:exactMatch ncbigene:1394 semapv:UnspecifiedMatching +OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch Orphanet:1797 semapv:UnspecifiedMatching OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching -OMIM:122600 spondylocostal dysostosis 5 skos:exactMatch orphanet.ordo:1797 semapv:UnspecifiedMatching OMIM:122700 coumarin resistance skos:exactMatch UMLS:C0750384 semapv:UnspecifiedMatching -OMIM:122720 CYP2A6 skos:exactMatch hgnc:CYP2A6 semapv:UnspecifiedMatching +OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:2610 semapv:UnspecifiedMatching +OMIM:122720 CYP2A6 skos:exactMatch hgnc.symbol:CYP2A6 semapv:UnspecifiedMatching OMIM:122720 CYP2A6 skos:exactMatch ncbigene:1548 semapv:UnspecifiedMatching +OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 semapv:UnspecifiedMatching OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch UMLS:C1852510 semapv:UnspecifiedMatching -OMIM:122880 craniofacial-deafness-hand syndrome skos:exactMatch orphanet.ordo:1529 semapv:UnspecifiedMatching +OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:1522 semapv:UnspecifiedMatching OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch UMLS:C1852502 semapv:UnspecifiedMatching -OMIM:123000 craniometaphyseal dysplasia, autosomal dominant skos:exactMatch orphanet.ordo:1522 semapv:UnspecifiedMatching -OMIM:123101 MSX2 skos:exactMatch hgnc:MSX2 semapv:UnspecifiedMatching +OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:7392 semapv:UnspecifiedMatching +OMIM:123101 MSX2 skos:exactMatch hgnc.symbol:MSX2 semapv:UnspecifiedMatching OMIM:123101 MSX2 skos:exactMatch ncbigene:4488 semapv:UnspecifiedMatching +OMIM:123150 jackson-weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching OMIM:123150 jackson-weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching -OMIM:123150 jackson-weiss syndrome skos:exactMatch orphanet.ordo:1540 semapv:UnspecifiedMatching -OMIM:123260 CRP skos:exactMatch hgnc:CRP semapv:UnspecifiedMatching +OMIM:123260 CRP skos:exactMatch hgnc.symbol:2367 semapv:UnspecifiedMatching +OMIM:123260 CRP skos:exactMatch hgnc.symbol:CRP semapv:UnspecifiedMatching OMIM:123260 CRP skos:exactMatch ncbigene:1401 semapv:UnspecifiedMatching -OMIM:123280 CKB skos:exactMatch hgnc:CKB semapv:UnspecifiedMatching +OMIM:123280 CKB skos:exactMatch hgnc.symbol:1991 semapv:UnspecifiedMatching +OMIM:123280 CKB skos:exactMatch hgnc.symbol:CKB semapv:UnspecifiedMatching OMIM:123280 CKB skos:exactMatch ncbigene:1152 semapv:UnspecifiedMatching -OMIM:123290 CKMT1B skos:exactMatch hgnc:CKMT1B semapv:UnspecifiedMatching +OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:1995 semapv:UnspecifiedMatching +OMIM:123290 CKMT1B skos:exactMatch hgnc.symbol:CKMT1B semapv:UnspecifiedMatching OMIM:123290 CKMT1B skos:exactMatch ncbigene:1159 semapv:UnspecifiedMatching -OMIM:123295 CKMT2 skos:exactMatch hgnc:CKMT2 semapv:UnspecifiedMatching +OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:1996 semapv:UnspecifiedMatching +OMIM:123295 CKMT2 skos:exactMatch hgnc.symbol:CKMT2 semapv:UnspecifiedMatching OMIM:123295 CKMT2 skos:exactMatch ncbigene:1160 semapv:UnspecifiedMatching -OMIM:123310 CKM skos:exactMatch hgnc:CKM semapv:UnspecifiedMatching +OMIM:123310 CKM skos:exactMatch hgnc.symbol:1994 semapv:UnspecifiedMatching +OMIM:123310 CKM skos:exactMatch hgnc.symbol:CKM semapv:UnspecifiedMatching OMIM:123310 CKM skos:exactMatch ncbigene:1158 semapv:UnspecifiedMatching +OMIM:123450 cri-du-chat syndrome skos:exactMatch Orphanet:281 semapv:UnspecifiedMatching OMIM:123450 cri-du-chat syndrome skos:exactMatch UMLS:C0010314 semapv:UnspecifiedMatching -OMIM:123450 cri-du-chat syndrome skos:exactMatch orphanet.ordo:281 semapv:UnspecifiedMatching -OMIM:123580 CRYAA skos:exactMatch hgnc:CRYAA semapv:UnspecifiedMatching +OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:2388 semapv:UnspecifiedMatching +OMIM:123580 CRYAA skos:exactMatch hgnc.symbol:CRYAA semapv:UnspecifiedMatching OMIM:123580 CRYAA skos:exactMatch ncbigene:1409 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C0302254 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C1439328 semapv:UnspecifiedMatching @@ -1481,115 +1953,162 @@ OMIM:123590 CRYAB skos:exactMatch UMLS:C3151236 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C3554649 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C4015991 semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch UMLS:C4015992 semapv:UnspecifiedMatching -OMIM:123590 CRYAB skos:exactMatch hgnc:CRYAB semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:2389 semapv:UnspecifiedMatching +OMIM:123590 CRYAB skos:exactMatch hgnc.symbol:CRYAB semapv:UnspecifiedMatching OMIM:123590 CRYAB skos:exactMatch ncbigene:1410 semapv:UnspecifiedMatching -OMIM:123610 CRYBA1 skos:exactMatch hgnc:CRYBA1 semapv:UnspecifiedMatching +OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:2394 semapv:UnspecifiedMatching +OMIM:123610 CRYBA1 skos:exactMatch hgnc.symbol:CRYBA1 semapv:UnspecifiedMatching OMIM:123610 CRYBA1 skos:exactMatch ncbigene:1411 semapv:UnspecifiedMatching -OMIM:123620 CRYBB2 skos:exactMatch hgnc:CRYBB2 semapv:UnspecifiedMatching +OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:2398 semapv:UnspecifiedMatching +OMIM:123620 CRYBB2 skos:exactMatch hgnc.symbol:CRYBB2 semapv:UnspecifiedMatching OMIM:123620 CRYBB2 skos:exactMatch ncbigene:1415 semapv:UnspecifiedMatching -OMIM:123630 CRYBB3 skos:exactMatch hgnc:CRYBB3 semapv:UnspecifiedMatching +OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:2400 semapv:UnspecifiedMatching +OMIM:123630 CRYBB3 skos:exactMatch hgnc.symbol:CRYBB3 semapv:UnspecifiedMatching OMIM:123630 CRYBB3 skos:exactMatch ncbigene:1417 semapv:UnspecifiedMatching -OMIM:123631 CRYBA4 skos:exactMatch hgnc:CRYBA4 semapv:UnspecifiedMatching +OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:2396 semapv:UnspecifiedMatching +OMIM:123631 CRYBA4 skos:exactMatch hgnc.symbol:CRYBA4 semapv:UnspecifiedMatching OMIM:123631 CRYBA4 skos:exactMatch ncbigene:1413 semapv:UnspecifiedMatching -OMIM:123660 CRYGA skos:exactMatch hgnc:CRYGA semapv:UnspecifiedMatching +OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:2408 semapv:UnspecifiedMatching +OMIM:123660 CRYGA skos:exactMatch hgnc.symbol:CRYGA semapv:UnspecifiedMatching OMIM:123660 CRYGA skos:exactMatch ncbigene:1418 semapv:UnspecifiedMatching -OMIM:123670 CRYGB skos:exactMatch hgnc:CRYGB semapv:UnspecifiedMatching +OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:2409 semapv:UnspecifiedMatching +OMIM:123670 CRYGB skos:exactMatch hgnc.symbol:CRYGB semapv:UnspecifiedMatching OMIM:123670 CRYGB skos:exactMatch ncbigene:1419 semapv:UnspecifiedMatching -OMIM:123680 CRYGC skos:exactMatch hgnc:CRYGC semapv:UnspecifiedMatching +OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:2410 semapv:UnspecifiedMatching +OMIM:123680 CRYGC skos:exactMatch hgnc.symbol:CRYGC semapv:UnspecifiedMatching OMIM:123680 CRYGC skos:exactMatch ncbigene:1420 semapv:UnspecifiedMatching -OMIM:123690 CRYGD skos:exactMatch hgnc:CRYGD semapv:UnspecifiedMatching +OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:2411 semapv:UnspecifiedMatching +OMIM:123690 CRYGD skos:exactMatch hgnc.symbol:CRYGD semapv:UnspecifiedMatching OMIM:123690 CRYGD skos:exactMatch ncbigene:1421 semapv:UnspecifiedMatching -OMIM:123691 CRYZ skos:exactMatch hgnc:CRYZ semapv:UnspecifiedMatching +OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:2419 semapv:UnspecifiedMatching +OMIM:123691 CRYZ skos:exactMatch hgnc.symbol:CRYZ semapv:UnspecifiedMatching OMIM:123691 CRYZ skos:exactMatch ncbigene:1429 semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch UMLS:C1418396 semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch UMLS:C1837073 semapv:UnspecifiedMatching -OMIM:123695 PCYT1A skos:exactMatch hgnc:PCYT1A semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:8754 semapv:UnspecifiedMatching +OMIM:123695 PCYT1A skos:exactMatch hgnc.symbol:PCYT1A semapv:UnspecifiedMatching OMIM:123695 PCYT1A skos:exactMatch ncbigene:5130 semapv:UnspecifiedMatching -OMIM:123730 CRYGS skos:exactMatch hgnc:CRYGS semapv:UnspecifiedMatching +OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:2417 semapv:UnspecifiedMatching +OMIM:123730 CRYGS skos:exactMatch hgnc.symbol:CRYGS semapv:UnspecifiedMatching OMIM:123730 CRYGS skos:exactMatch ncbigene:1427 semapv:UnspecifiedMatching -OMIM:123740 CRYM skos:exactMatch hgnc:CRYM semapv:UnspecifiedMatching +OMIM:123740 CRYM skos:exactMatch hgnc.symbol:2418 semapv:UnspecifiedMatching +OMIM:123740 CRYM skos:exactMatch hgnc.symbol:CRYM semapv:UnspecifiedMatching OMIM:123740 CRYM skos:exactMatch ncbigene:1428 semapv:UnspecifiedMatching +OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 semapv:UnspecifiedMatching OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch UMLS:C1852406 semapv:UnspecifiedMatching -OMIM:123790 beare-stevenson cutis gyrata syndrome skos:exactMatch orphanet.ordo:1555 semapv:UnspecifiedMatching -OMIM:123803 ATF1 skos:exactMatch hgnc:ATF1 semapv:UnspecifiedMatching +OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:783 semapv:UnspecifiedMatching +OMIM:123803 ATF1 skos:exactMatch hgnc.symbol:ATF1 semapv:UnspecifiedMatching OMIM:123803 ATF1 skos:exactMatch ncbigene:466 semapv:UnspecifiedMatching OMIM:123805 PDE3A skos:exactMatch UMLS:C1418418 semapv:UnspecifiedMatching OMIM:123805 PDE3A skos:exactMatch UMLS:C1862170 semapv:UnspecifiedMatching -OMIM:123805 PDE3A skos:exactMatch hgnc:PDE3A semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:8778 semapv:UnspecifiedMatching +OMIM:123805 PDE3A skos:exactMatch hgnc.symbol:PDE3A semapv:UnspecifiedMatching OMIM:123805 PDE3A skos:exactMatch ncbigene:5139 semapv:UnspecifiedMatching -OMIM:123810 CREB1 skos:exactMatch hgnc:CREB1 semapv:UnspecifiedMatching +OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:2345 semapv:UnspecifiedMatching +OMIM:123810 CREB1 skos:exactMatch hgnc.symbol:CREB1 semapv:UnspecifiedMatching OMIM:123810 CREB1 skos:exactMatch ncbigene:1385 semapv:UnspecifiedMatching -OMIM:123811 ATF2 skos:exactMatch hgnc:ATF2 semapv:UnspecifiedMatching +OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:784 semapv:UnspecifiedMatching +OMIM:123811 ATF2 skos:exactMatch hgnc.symbol:ATF2 semapv:UnspecifiedMatching OMIM:123811 ATF2 skos:exactMatch ncbigene:1386 semapv:UnspecifiedMatching -OMIM:123812 CREM skos:exactMatch hgnc:CREM semapv:UnspecifiedMatching +OMIM:123812 CREM skos:exactMatch hgnc.symbol:2352 semapv:UnspecifiedMatching +OMIM:123812 CREM skos:exactMatch hgnc.symbol:CREM semapv:UnspecifiedMatching OMIM:123812 CREM skos:exactMatch ncbigene:1390 semapv:UnspecifiedMatching -OMIM:123825 CNGA1 skos:exactMatch hgnc:CNGA1 semapv:UnspecifiedMatching +OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:2148 semapv:UnspecifiedMatching +OMIM:123825 CNGA1 skos:exactMatch hgnc.symbol:CNGA1 semapv:UnspecifiedMatching OMIM:123825 CNGA1 skos:exactMatch ncbigene:1259 semapv:UnspecifiedMatching -OMIM:123828 CDK3 skos:exactMatch hgnc:CDK3 semapv:UnspecifiedMatching +OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:1772 semapv:UnspecifiedMatching +OMIM:123828 CDK3 skos:exactMatch hgnc.symbol:CDK3 semapv:UnspecifiedMatching OMIM:123828 CDK3 skos:exactMatch ncbigene:1018 semapv:UnspecifiedMatching -OMIM:123829 CDK4 skos:exactMatch hgnc:CDK4 semapv:UnspecifiedMatching +OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:1773 semapv:UnspecifiedMatching +OMIM:123829 CDK4 skos:exactMatch hgnc.symbol:CDK4 semapv:UnspecifiedMatching OMIM:123829 CDK4 skos:exactMatch ncbigene:1019 semapv:UnspecifiedMatching OMIM:123830 CNP skos:exactMatch UMLS:C1413553 semapv:UnspecifiedMatching OMIM:123830 CNP skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching -OMIM:123830 CNP skos:exactMatch hgnc:CNP semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch hgnc.symbol:2158 semapv:UnspecifiedMatching +OMIM:123830 CNP skos:exactMatch hgnc.symbol:CNP semapv:UnspecifiedMatching OMIM:123830 CNP skos:exactMatch ncbigene:1267 semapv:UnspecifiedMatching -OMIM:123831 CDK5 skos:exactMatch hgnc:CDK5 semapv:UnspecifiedMatching +OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:1774 semapv:UnspecifiedMatching +OMIM:123831 CDK5 skos:exactMatch hgnc.symbol:CDK5 semapv:UnspecifiedMatching OMIM:123831 CDK5 skos:exactMatch ncbigene:1020 semapv:UnspecifiedMatching -OMIM:123832 CDKN3 skos:exactMatch hgnc:CDKN3 semapv:UnspecifiedMatching +OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:1791 semapv:UnspecifiedMatching +OMIM:123832 CDKN3 skos:exactMatch hgnc.symbol:CDKN3 semapv:UnspecifiedMatching OMIM:123832 CDKN3 skos:exactMatch ncbigene:1033 semapv:UnspecifiedMatching OMIM:123833 CCND2 skos:exactMatch UMLS:C1413173 semapv:UnspecifiedMatching OMIM:123833 CCND2 skos:exactMatch UMLS:C4014742 semapv:UnspecifiedMatching -OMIM:123833 CCND2 skos:exactMatch hgnc:CCND2 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:1583 semapv:UnspecifiedMatching +OMIM:123833 CCND2 skos:exactMatch hgnc.symbol:CCND2 semapv:UnspecifiedMatching OMIM:123833 CCND2 skos:exactMatch ncbigene:894 semapv:UnspecifiedMatching -OMIM:123834 CCND3 skos:exactMatch hgnc:CCND3 semapv:UnspecifiedMatching +OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:1585 semapv:UnspecifiedMatching +OMIM:123834 CCND3 skos:exactMatch hgnc.symbol:CCND3 semapv:UnspecifiedMatching OMIM:123834 CCND3 skos:exactMatch ncbigene:896 semapv:UnspecifiedMatching -OMIM:123835 CCNA2 skos:exactMatch hgnc:CCNA2 semapv:UnspecifiedMatching +OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:1578 semapv:UnspecifiedMatching +OMIM:123835 CCNA2 skos:exactMatch hgnc.symbol:CCNA2 semapv:UnspecifiedMatching OMIM:123835 CCNA2 skos:exactMatch ncbigene:890 semapv:UnspecifiedMatching -OMIM:123836 CCNB1 skos:exactMatch hgnc:CCNB1 semapv:UnspecifiedMatching +OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:1579 semapv:UnspecifiedMatching +OMIM:123836 CCNB1 skos:exactMatch hgnc.symbol:CCNB1 semapv:UnspecifiedMatching OMIM:123836 CCNB1 skos:exactMatch ncbigene:891 semapv:UnspecifiedMatching -OMIM:123837 CCNE1 skos:exactMatch hgnc:CCNE1 semapv:UnspecifiedMatching +OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:1589 semapv:UnspecifiedMatching +OMIM:123837 CCNE1 skos:exactMatch hgnc.symbol:CCNE1 semapv:UnspecifiedMatching OMIM:123837 CCNE1 skos:exactMatch ncbigene:898 semapv:UnspecifiedMatching -OMIM:123838 CCNC skos:exactMatch hgnc:CCNC semapv:UnspecifiedMatching +OMIM:123838 CCNC skos:exactMatch hgnc.symbol:1581 semapv:UnspecifiedMatching +OMIM:123838 CCNC skos:exactMatch hgnc.symbol:CCNC semapv:UnspecifiedMatching OMIM:123838 CCNC skos:exactMatch ncbigene:892 semapv:UnspecifiedMatching -OMIM:123840 PPIA skos:exactMatch hgnc:PPIA semapv:UnspecifiedMatching +OMIM:123840 PPIA skos:exactMatch hgnc.symbol:9253 semapv:UnspecifiedMatching +OMIM:123840 PPIA skos:exactMatch hgnc.symbol:PPIA semapv:UnspecifiedMatching OMIM:123840 PPIA skos:exactMatch ncbigene:5478 semapv:UnspecifiedMatching -OMIM:123841 PPIB skos:exactMatch hgnc:PPIB semapv:UnspecifiedMatching +OMIM:123841 PPIB skos:exactMatch hgnc.symbol:9255 semapv:UnspecifiedMatching +OMIM:123841 PPIB skos:exactMatch hgnc.symbol:PPIB semapv:UnspecifiedMatching OMIM:123841 PPIB skos:exactMatch ncbigene:5479 semapv:UnspecifiedMatching -OMIM:123842 PPIC skos:exactMatch hgnc:PPIC semapv:UnspecifiedMatching +OMIM:123842 PPIC skos:exactMatch hgnc.symbol:9256 semapv:UnspecifiedMatching +OMIM:123842 PPIC skos:exactMatch hgnc.symbol:PPIC semapv:UnspecifiedMatching OMIM:123842 PPIC skos:exactMatch ncbigene:5480 semapv:UnspecifiedMatching -OMIM:123855 CST1 skos:exactMatch hgnc:CST1 semapv:UnspecifiedMatching +OMIM:123855 CST1 skos:exactMatch hgnc.symbol:2473 semapv:UnspecifiedMatching +OMIM:123855 CST1 skos:exactMatch hgnc.symbol:CST1 semapv:UnspecifiedMatching OMIM:123855 CST1 skos:exactMatch ncbigene:1469 semapv:UnspecifiedMatching -OMIM:123856 CST2 skos:exactMatch hgnc:CST2 semapv:UnspecifiedMatching +OMIM:123856 CST2 skos:exactMatch hgnc.symbol:2474 semapv:UnspecifiedMatching +OMIM:123856 CST2 skos:exactMatch hgnc.symbol:CST2 semapv:UnspecifiedMatching OMIM:123856 CST2 skos:exactMatch ncbigene:1470 semapv:UnspecifiedMatching -OMIM:123857 CST4 skos:exactMatch hgnc:CST4 semapv:UnspecifiedMatching +OMIM:123857 CST4 skos:exactMatch hgnc.symbol:2476 semapv:UnspecifiedMatching +OMIM:123857 CST4 skos:exactMatch hgnc.symbol:CST4 semapv:UnspecifiedMatching OMIM:123857 CST4 skos:exactMatch ncbigene:1472 semapv:UnspecifiedMatching -OMIM:123858 CST5 skos:exactMatch hgnc:CST5 semapv:UnspecifiedMatching +OMIM:123858 CST5 skos:exactMatch hgnc.symbol:2477 semapv:UnspecifiedMatching +OMIM:123858 CST5 skos:exactMatch hgnc.symbol:CST5 semapv:UnspecifiedMatching OMIM:123858 CST5 skos:exactMatch ncbigene:1473 semapv:UnspecifiedMatching OMIM:123859 CARS1 skos:exactMatch UMLS:C1413126 semapv:UnspecifiedMatching OMIM:123859 CARS1 skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching -OMIM:123859 CARS1 skos:exactMatch hgnc:CARS1 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:1493 semapv:UnspecifiedMatching +OMIM:123859 CARS1 skos:exactMatch hgnc.symbol:CARS1 semapv:UnspecifiedMatching OMIM:123859 CARS1 skos:exactMatch ncbigene:833 semapv:UnspecifiedMatching -OMIM:123860 CTPS1 skos:exactMatch hgnc:CTPS1 semapv:UnspecifiedMatching +OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:2519 semapv:UnspecifiedMatching +OMIM:123860 CTPS1 skos:exactMatch hgnc.symbol:CTPS1 semapv:UnspecifiedMatching OMIM:123860 CTPS1 skos:exactMatch ncbigene:1503 semapv:UnspecifiedMatching OMIM:123864 COX4I1 skos:exactMatch UMLS:C1413634 semapv:UnspecifiedMatching OMIM:123864 COX4I1 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching -OMIM:123864 COX4I1 skos:exactMatch hgnc:COX4I1 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:2265 semapv:UnspecifiedMatching +OMIM:123864 COX4I1 skos:exactMatch hgnc.symbol:COX4I1 semapv:UnspecifiedMatching OMIM:123864 COX4I1 skos:exactMatch ncbigene:1327 semapv:UnspecifiedMatching -OMIM:123866 COX5B skos:exactMatch hgnc:COX5B semapv:UnspecifiedMatching +OMIM:123866 COX5B skos:exactMatch hgnc.symbol:2269 semapv:UnspecifiedMatching +OMIM:123866 COX5B skos:exactMatch hgnc.symbol:COX5B semapv:UnspecifiedMatching OMIM:123866 COX5B skos:exactMatch ncbigene:1329 semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch UMLS:C1413661 semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching -OMIM:123870 COX8A skos:exactMatch hgnc:COX8A semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch hgnc.symbol:2294 semapv:UnspecifiedMatching +OMIM:123870 COX8A skos:exactMatch hgnc.symbol:COX8A semapv:UnspecifiedMatching OMIM:123870 COX8A skos:exactMatch ncbigene:1351 semapv:UnspecifiedMatching -OMIM:123875 CRIP1 skos:exactMatch hgnc:CRIP1 semapv:UnspecifiedMatching +OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:2360 semapv:UnspecifiedMatching +OMIM:123875 CRIP1 skos:exactMatch hgnc.symbol:CRIP1 semapv:UnspecifiedMatching OMIM:123875 CRIP1 skos:exactMatch ncbigene:1396 semapv:UnspecifiedMatching -OMIM:123876 CSRP1 skos:exactMatch hgnc:CSRP1 semapv:UnspecifiedMatching +OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:2469 semapv:UnspecifiedMatching +OMIM:123876 CSRP1 skos:exactMatch hgnc.symbol:CSRP1 semapv:UnspecifiedMatching OMIM:123876 CSRP1 skos:exactMatch ncbigene:1465 semapv:UnspecifiedMatching -OMIM:123885 S100A8 skos:exactMatch hgnc:S100A8 semapv:UnspecifiedMatching +OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:10498 semapv:UnspecifiedMatching +OMIM:123885 S100A8 skos:exactMatch hgnc.symbol:S100A8 semapv:UnspecifiedMatching OMIM:123885 S100A8 skos:exactMatch ncbigene:6279 semapv:UnspecifiedMatching -OMIM:123886 S100A9 skos:exactMatch hgnc:S100A9 semapv:UnspecifiedMatching +OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:10499 semapv:UnspecifiedMatching +OMIM:123886 S100A9 skos:exactMatch hgnc.symbol:S100A9 semapv:UnspecifiedMatching OMIM:123886 S100A9 skos:exactMatch ncbigene:6280 semapv:UnspecifiedMatching -OMIM:123889 IL10RB skos:exactMatch hgnc:IL10RB semapv:UnspecifiedMatching +OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:5965 semapv:UnspecifiedMatching +OMIM:123889 IL10RB skos:exactMatch hgnc.symbol:IL10RB semapv:UnspecifiedMatching OMIM:123889 IL10RB skos:exactMatch ncbigene:3588 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C1332802 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C1833450 semapv:UnspecifiedMatching @@ -1598,453 +2117,614 @@ OMIM:123890 CTLA4 skos:exactMatch UMLS:C1857845 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C4015214 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch UMLS:C5436965 semapv:UnspecifiedMatching -OMIM:123890 CTLA4 skos:exactMatch hgnc:CTLA4 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:2505 semapv:UnspecifiedMatching +OMIM:123890 CTLA4 skos:exactMatch hgnc.symbol:CTLA4 semapv:UnspecifiedMatching OMIM:123890 CTLA4 skos:exactMatch ncbigene:1493 semapv:UnspecifiedMatching -OMIM:123900 EZR skos:exactMatch hgnc:EZR semapv:UnspecifiedMatching +OMIM:123900 EZR skos:exactMatch hgnc.symbol:12691 semapv:UnspecifiedMatching +OMIM:123900 EZR skos:exactMatch hgnc.symbol:EZR semapv:UnspecifiedMatching OMIM:123900 EZR skos:exactMatch ncbigene:7430 semapv:UnspecifiedMatching -OMIM:123910 GZMB skos:exactMatch hgnc:GZMB semapv:UnspecifiedMatching +OMIM:123910 GZMB skos:exactMatch hgnc.symbol:4709 semapv:UnspecifiedMatching +OMIM:123910 GZMB skos:exactMatch hgnc.symbol:GZMB semapv:UnspecifiedMatching OMIM:123910 GZMB skos:exactMatch ncbigene:3002 semapv:UnspecifiedMatching -OMIM:123920 CDA skos:exactMatch hgnc:CDA semapv:UnspecifiedMatching +OMIM:123920 CDA skos:exactMatch hgnc.symbol:1712 semapv:UnspecifiedMatching +OMIM:123920 CDA skos:exactMatch hgnc.symbol:CDA semapv:UnspecifiedMatching OMIM:123920 CDA skos:exactMatch ncbigene:978 semapv:UnspecifiedMatching -OMIM:123930 CYP2B6 skos:exactMatch hgnc:CYP2B6 semapv:UnspecifiedMatching +OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:2615 semapv:UnspecifiedMatching +OMIM:123930 CYP2B6 skos:exactMatch hgnc.symbol:CYP2B6 semapv:UnspecifiedMatching OMIM:123930 CYP2B6 skos:exactMatch ncbigene:1555 semapv:UnspecifiedMatching -OMIM:123940 KRT4 skos:exactMatch hgnc:KRT4 semapv:UnspecifiedMatching +OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:6441 semapv:UnspecifiedMatching +OMIM:123940 KRT4 skos:exactMatch hgnc.symbol:KRT4 semapv:UnspecifiedMatching OMIM:123940 KRT4 skos:exactMatch ncbigene:3851 semapv:UnspecifiedMatching -OMIM:123970 CYCS skos:exactMatch hgnc:CYCS semapv:UnspecifiedMatching +OMIM:123970 CYCS skos:exactMatch hgnc.symbol:19986 semapv:UnspecifiedMatching +OMIM:123970 CYCS skos:exactMatch hgnc.symbol:CYCS semapv:UnspecifiedMatching OMIM:123970 CYCS skos:exactMatch ncbigene:54205 semapv:UnspecifiedMatching -OMIM:123980 CYC1 skos:exactMatch hgnc:CYC1 semapv:UnspecifiedMatching +OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:2579 semapv:UnspecifiedMatching +OMIM:123980 CYC1 skos:exactMatch hgnc.symbol:CYC1 semapv:UnspecifiedMatching OMIM:123980 CYC1 skos:exactMatch ncbigene:1537 semapv:UnspecifiedMatching -OMIM:123995 COX7A1 skos:exactMatch hgnc:COX7A1 semapv:UnspecifiedMatching +OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:2287 semapv:UnspecifiedMatching +OMIM:123995 COX7A1 skos:exactMatch hgnc.symbol:COX7A1 semapv:UnspecifiedMatching OMIM:123995 COX7A1 skos:exactMatch ncbigene:1346 semapv:UnspecifiedMatching -OMIM:123996 COX7A2 skos:exactMatch hgnc:COX7A2 semapv:UnspecifiedMatching +OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:2288 semapv:UnspecifiedMatching +OMIM:123996 COX7A2 skos:exactMatch hgnc.symbol:COX7A2 semapv:UnspecifiedMatching OMIM:123996 COX7A2 skos:exactMatch ncbigene:1347 semapv:UnspecifiedMatching -OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc:COX7A2P2 semapv:UnspecifiedMatching +OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:2290 semapv:UnspecifiedMatching +OMIM:123997 cytochrome c oxidase, subunit 7a2, pseudogene 2 skos:exactMatch hgnc.symbol:COX7A2P2 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching +OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254902 semapv:UnspecifiedMatching OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching -OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch orphanet.ordo:1460 semapv:UnspecifiedMatching -OMIM:124000 mitochondrial complex 3 deficiency, nuclear iia 1 skos:exactMatch orphanet.ordo:254902 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch UMLS:C1176140 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4016007 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch UMLS:C4017437 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching -OMIM:124010 CYP3A4 skos:exactMatch hgnc:CYP3A4 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:2637 semapv:UnspecifiedMatching +OMIM:124010 CYP3A4 skos:exactMatch hgnc.symbol:CYP3A4 semapv:UnspecifiedMatching OMIM:124010 CYP3A4 skos:exactMatch ncbigene:1576 semapv:UnspecifiedMatching -OMIM:124015 POR skos:exactMatch hgnc:POR semapv:UnspecifiedMatching +OMIM:124015 POR skos:exactMatch hgnc.symbol:9208 semapv:UnspecifiedMatching +OMIM:124015 POR skos:exactMatch hgnc.symbol:POR semapv:UnspecifiedMatching OMIM:124015 POR skos:exactMatch ncbigene:5447 semapv:UnspecifiedMatching -OMIM:124020 CYP2C19 skos:exactMatch hgnc:CYP2C19 semapv:UnspecifiedMatching +OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:2621 semapv:UnspecifiedMatching +OMIM:124020 CYP2C19 skos:exactMatch hgnc.symbol:CYP2C19 semapv:UnspecifiedMatching OMIM:124020 CYP2C19 skos:exactMatch ncbigene:1557 semapv:UnspecifiedMatching -OMIM:124030 CYP2D6 skos:exactMatch hgnc:CYP2D6 semapv:UnspecifiedMatching +OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:2625 semapv:UnspecifiedMatching +OMIM:124030 CYP2D6 skos:exactMatch hgnc.symbol:CYP2D6 semapv:UnspecifiedMatching OMIM:124030 CYP2D6 skos:exactMatch ncbigene:1565 semapv:UnspecifiedMatching -OMIM:124040 CYP2E1 skos:exactMatch hgnc:CYP2E1 semapv:UnspecifiedMatching +OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:2631 semapv:UnspecifiedMatching +OMIM:124040 CYP2E1 skos:exactMatch hgnc.symbol:CYP2E1 semapv:UnspecifiedMatching OMIM:124040 CYP2E1 skos:exactMatch ncbigene:1571 semapv:UnspecifiedMatching -OMIM:124050 DAO skos:exactMatch hgnc:DAO semapv:UnspecifiedMatching +OMIM:124050 DAO skos:exactMatch hgnc.symbol:2671 semapv:UnspecifiedMatching +OMIM:124050 DAO skos:exactMatch hgnc.symbol:DAO semapv:UnspecifiedMatching OMIM:124050 DAO skos:exactMatch ncbigene:1610 semapv:UnspecifiedMatching -OMIM:124060 CYP1A2 skos:exactMatch hgnc:CYP1A2 semapv:UnspecifiedMatching +OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:2596 semapv:UnspecifiedMatching +OMIM:124060 CYP1A2 skos:exactMatch hgnc.symbol:CYP1A2 semapv:UnspecifiedMatching OMIM:124060 CYP1A2 skos:exactMatch ncbigene:1544 semapv:UnspecifiedMatching -OMIM:124070 CYP2F1 skos:exactMatch hgnc:CYP2F1 semapv:UnspecifiedMatching +OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:2632 semapv:UnspecifiedMatching +OMIM:124070 CYP2F1 skos:exactMatch hgnc.symbol:CYP2F1 semapv:UnspecifiedMatching OMIM:124070 CYP2F1 skos:exactMatch ncbigene:1572 semapv:UnspecifiedMatching -OMIM:124075 CYP4B1 skos:exactMatch hgnc:CYP4B1 semapv:UnspecifiedMatching +OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:2644 semapv:UnspecifiedMatching +OMIM:124075 CYP4B1 skos:exactMatch hgnc.symbol:CYP4B1 semapv:UnspecifiedMatching OMIM:124075 CYP4B1 skos:exactMatch ncbigene:1580 semapv:UnspecifiedMatching -OMIM:124080 CYP11B2 skos:exactMatch hgnc:CYP11B2 semapv:UnspecifiedMatching +OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:2592 semapv:UnspecifiedMatching +OMIM:124080 CYP11B2 skos:exactMatch hgnc.symbol:CYP11B2 semapv:UnspecifiedMatching OMIM:124080 CYP11B2 skos:exactMatch ncbigene:1585 semapv:UnspecifiedMatching OMIM:124089 COX6B1 skos:exactMatch UMLS:C1539128 semapv:UnspecifiedMatching OMIM:124089 COX6B1 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching -OMIM:124089 COX6B1 skos:exactMatch hgnc:COX6B1 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:2280 semapv:UnspecifiedMatching +OMIM:124089 COX6B1 skos:exactMatch hgnc.symbol:COX6B1 semapv:UnspecifiedMatching OMIM:124089 COX6B1 skos:exactMatch ncbigene:1340 semapv:UnspecifiedMatching -OMIM:124090 COX6C skos:exactMatch hgnc:COX6C semapv:UnspecifiedMatching +OMIM:124090 COX6C skos:exactMatch hgnc.symbol:2285 semapv:UnspecifiedMatching +OMIM:124090 COX6C skos:exactMatch hgnc.symbol:COX6C semapv:UnspecifiedMatching OMIM:124090 COX6C skos:exactMatch ncbigene:1345 semapv:UnspecifiedMatching -OMIM:124092 IL10 skos:exactMatch hgnc:IL10 semapv:UnspecifiedMatching +OMIM:124092 IL10 skos:exactMatch hgnc.symbol:5962 semapv:UnspecifiedMatching +OMIM:124092 IL10 skos:exactMatch hgnc.symbol:IL10 semapv:UnspecifiedMatching OMIM:124092 IL10 skos:exactMatch ncbigene:3586 semapv:UnspecifiedMatching -OMIM:124095 CSK skos:exactMatch hgnc:CSK semapv:UnspecifiedMatching +OMIM:124095 CSK skos:exactMatch hgnc.symbol:2444 semapv:UnspecifiedMatching +OMIM:124095 CSK skos:exactMatch hgnc.symbol:CSK semapv:UnspecifiedMatching OMIM:124095 CSK skos:exactMatch ncbigene:1445 semapv:UnspecifiedMatching OMIM:124097 DBP skos:exactMatch UMLS:C1413924 semapv:UnspecifiedMatching -OMIM:124097 DBP skos:exactMatch hgnc:DBP semapv:UnspecifiedMatching +OMIM:124097 DBP skos:exactMatch hgnc.symbol:2697 semapv:UnspecifiedMatching +OMIM:124097 DBP skos:exactMatch hgnc.symbol:DBP semapv:UnspecifiedMatching OMIM:124097 DBP skos:exactMatch ncbigene:1628 semapv:UnspecifiedMatching -OMIM:124450 DDO skos:exactMatch hgnc:DDO semapv:UnspecifiedMatching +OMIM:124450 DDO skos:exactMatch hgnc.symbol:2727 semapv:UnspecifiedMatching +OMIM:124450 DDO skos:exactMatch hgnc.symbol:DDO semapv:UnspecifiedMatching OMIM:124450 DDO skos:exactMatch ncbigene:8528 semapv:UnspecifiedMatching +OMIM:124500 vohwinkel syndrome skos:exactMatch Orphanet:494 semapv:UnspecifiedMatching OMIM:124500 vohwinkel syndrome skos:exactMatch UMLS:C0265964 semapv:UnspecifiedMatching -OMIM:124500 vohwinkel syndrome skos:exactMatch orphanet.ordo:494 semapv:UnspecifiedMatching +OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch Orphanet:494444 semapv:UnspecifiedMatching OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching -OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia skos:exactMatch orphanet.ordo:494444 semapv:UnspecifiedMatching -OMIM:125220 DEFA1 skos:exactMatch hgnc:DEFA1 semapv:UnspecifiedMatching +OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:2761 semapv:UnspecifiedMatching +OMIM:125220 DEFA1 skos:exactMatch hgnc.symbol:DEFA1 semapv:UnspecifiedMatching OMIM:125220 DEFA1 skos:exactMatch ncbigene:1667 semapv:UnspecifiedMatching -OMIM:125240 CD55 skos:exactMatch hgnc:CD55 semapv:UnspecifiedMatching +OMIM:125240 CD55 skos:exactMatch hgnc.symbol:2665 semapv:UnspecifiedMatching +OMIM:125240 CD55 skos:exactMatch hgnc.symbol:CD55 semapv:UnspecifiedMatching OMIM:125240 CD55 skos:exactMatch ncbigene:1604 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:1215 semapv:UnspecifiedMatching +OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch Orphanet:3212 semapv:UnspecifiedMatching OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching -OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch orphanet.ordo:1215 semapv:UnspecifiedMatching -OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch orphanet.ordo:3212 semapv:UnspecifiedMatching -OMIM:125255 DCN skos:exactMatch hgnc:DCN semapv:UnspecifiedMatching +OMIM:125255 DCN skos:exactMatch hgnc.symbol:2705 semapv:UnspecifiedMatching +OMIM:125255 DCN skos:exactMatch hgnc.symbol:DCN semapv:UnspecifiedMatching OMIM:125255 DCN skos:exactMatch ncbigene:1634 semapv:UnspecifiedMatching -OMIM:125263 SULT2A1 skos:exactMatch hgnc:SULT2A1 semapv:UnspecifiedMatching +OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:11458 semapv:UnspecifiedMatching +OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:SULT2A1 semapv:UnspecifiedMatching OMIM:125263 SULT2A1 skos:exactMatch ncbigene:6822 semapv:UnspecifiedMatching -OMIM:125264 DEK skos:exactMatch hgnc:DEK semapv:UnspecifiedMatching +OMIM:125264 DEK skos:exactMatch hgnc.symbol:2768 semapv:UnspecifiedMatching +OMIM:125264 DEK skos:exactMatch hgnc.symbol:DEK semapv:UnspecifiedMatching OMIM:125264 DEK skos:exactMatch ncbigene:7913 semapv:UnspecifiedMatching -OMIM:125265 REEP5 skos:exactMatch hgnc:REEP5 semapv:UnspecifiedMatching +OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:30077 semapv:UnspecifiedMatching +OMIM:125265 REEP5 skos:exactMatch hgnc.symbol:REEP5 semapv:UnspecifiedMatching OMIM:125265 REEP5 skos:exactMatch ncbigene:7905 semapv:UnspecifiedMatching -OMIM:125270 ALAD skos:exactMatch hgnc:ALAD semapv:UnspecifiedMatching +OMIM:125270 ALAD skos:exactMatch hgnc.symbol:395 semapv:UnspecifiedMatching +OMIM:125270 ALAD skos:exactMatch hgnc.symbol:ALAD semapv:UnspecifiedMatching OMIM:125270 ALAD skos:exactMatch ncbigene:210 semapv:UnspecifiedMatching -OMIM:125290 ALAS1 skos:exactMatch hgnc:ALAS1 semapv:UnspecifiedMatching +OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:396 semapv:UnspecifiedMatching +OMIM:125290 ALAS1 skos:exactMatch hgnc.symbol:ALAS1 semapv:UnspecifiedMatching OMIM:125290 ALAS1 skos:exactMatch ncbigene:211 semapv:UnspecifiedMatching -OMIM:125305 EPB49 skos:exactMatch hgnc:DMTN semapv:UnspecifiedMatching +OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:3382 semapv:UnspecifiedMatching +OMIM:125305 EPB49 skos:exactMatch hgnc.symbol:DMTN semapv:UnspecifiedMatching OMIM:125305 EPB49 skos:exactMatch ncbigene:2039 semapv:UnspecifiedMatching +OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch Orphanet:136 semapv:UnspecifiedMatching OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C0751587 semapv:UnspecifiedMatching OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching -OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 skos:exactMatch orphanet.ordo:136 semapv:UnspecifiedMatching +OMIM:125350 failure of tooth eruption, primary skos:exactMatch Orphanet:412206 semapv:UnspecifiedMatching OMIM:125350 failure of tooth eruption, primary skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching -OMIM:125350 failure of tooth eruption, primary skos:exactMatch orphanet.ordo:412206 semapv:UnspecifiedMatching +OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 semapv:UnspecifiedMatching OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C2931846 semapv:UnspecifiedMatching -OMIM:125370 dentatorubral-pallidoluysian atrophy skos:exactMatch orphanet.ordo:101 semapv:UnspecifiedMatching -OMIM:125450 DCK skos:exactMatch hgnc:DCK semapv:UnspecifiedMatching +OMIM:125450 DCK skos:exactMatch hgnc.symbol:2704 semapv:UnspecifiedMatching +OMIM:125450 DCK skos:exactMatch hgnc.symbol:DCK semapv:UnspecifiedMatching OMIM:125450 DCK skos:exactMatch ncbigene:1633 semapv:UnspecifiedMatching OMIM:125480 major affective disorder 1 skos:exactMatch UMLS:C1852197 semapv:UnspecifiedMatching -OMIM:125485 DSPP skos:exactMatch hgnc:DSPP semapv:UnspecifiedMatching +OMIM:125485 DSPP skos:exactMatch hgnc.symbol:3054 semapv:UnspecifiedMatching +OMIM:125485 DSPP skos:exactMatch hgnc.symbol:DSPP semapv:UnspecifiedMatching OMIM:125485 DSPP skos:exactMatch ncbigene:1834 semapv:UnspecifiedMatching -OMIM:125505 DNASE1 skos:exactMatch hgnc:DNASE1 semapv:UnspecifiedMatching +OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:2956 semapv:UnspecifiedMatching +OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:DNASE1 semapv:UnspecifiedMatching OMIM:125505 DNASE1 skos:exactMatch ncbigene:1773 semapv:UnspecifiedMatching -OMIM:125597 DPT skos:exactMatch hgnc:DPT semapv:UnspecifiedMatching +OMIM:125597 DPT skos:exactMatch hgnc.symbol:3011 semapv:UnspecifiedMatching +OMIM:125597 DPT skos:exactMatch hgnc.symbol:DPT semapv:UnspecifiedMatching OMIM:125597 DPT skos:exactMatch ncbigene:1805 semapv:UnspecifiedMatching -OMIM:125643 DSC1 skos:exactMatch hgnc:DSC1 semapv:UnspecifiedMatching +OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:3035 semapv:UnspecifiedMatching +OMIM:125643 DSC1 skos:exactMatch hgnc.symbol:DSC1 semapv:UnspecifiedMatching OMIM:125643 DSC1 skos:exactMatch ncbigene:1823 semapv:UnspecifiedMatching -OMIM:125645 DSC2 skos:exactMatch hgnc:DSC2 semapv:UnspecifiedMatching +OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:3036 semapv:UnspecifiedMatching +OMIM:125645 DSC2 skos:exactMatch hgnc.symbol:DSC2 semapv:UnspecifiedMatching OMIM:125645 DSC2 skos:exactMatch ncbigene:1824 semapv:UnspecifiedMatching -OMIM:125647 DSP skos:exactMatch hgnc:DSP semapv:UnspecifiedMatching +OMIM:125647 DSP skos:exactMatch hgnc.symbol:3052 semapv:UnspecifiedMatching +OMIM:125647 DSP skos:exactMatch hgnc.symbol:DSP semapv:UnspecifiedMatching OMIM:125647 DSP skos:exactMatch ncbigene:1832 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch UMLS:C1413980 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch UMLS:C1867005 semapv:UnspecifiedMatching -OMIM:125660 DES skos:exactMatch hgnc:DES semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch hgnc.symbol:2770 semapv:UnspecifiedMatching +OMIM:125660 DES skos:exactMatch hgnc.symbol:DES semapv:UnspecifiedMatching OMIM:125660 DES skos:exactMatch ncbigene:1674 semapv:UnspecifiedMatching -OMIM:125670 DSG1 skos:exactMatch hgnc:DSG1 semapv:UnspecifiedMatching +OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:3048 semapv:UnspecifiedMatching +OMIM:125670 DSG1 skos:exactMatch hgnc.symbol:DSG1 semapv:UnspecifiedMatching OMIM:125670 DSG1 skos:exactMatch ncbigene:1828 semapv:UnspecifiedMatching -OMIM:125671 DSG2 skos:exactMatch hgnc:DSG2 semapv:UnspecifiedMatching +OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:3049 semapv:UnspecifiedMatching +OMIM:125671 DSG2 skos:exactMatch hgnc.symbol:DSG2 semapv:UnspecifiedMatching OMIM:125671 DSG2 skos:exactMatch ncbigene:1829 semapv:UnspecifiedMatching +OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching -OMIM:125851 maturity-onset diabetes of the young, iia 2 skos:exactMatch orphanet.ordo:552 semapv:UnspecifiedMatching OMIM:125852 iia 1 diabetes mellitus 2 skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching OMIM:125853 iia 2 diabetes mellitus skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching -OMIM:125855 DGKA skos:exactMatch hgnc:DGKA semapv:UnspecifiedMatching +OMIM:125855 DGKA skos:exactMatch hgnc.symbol:2849 semapv:UnspecifiedMatching +OMIM:125855 DGKA skos:exactMatch hgnc.symbol:DGKA semapv:UnspecifiedMatching OMIM:125855 DGKA skos:exactMatch ncbigene:1606 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch UMLS:C0919428 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch UMLS:C2675718 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch UMLS:C2675719 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch UMLS:C2675722 semapv:UnspecifiedMatching -OMIM:125860 NQO1 skos:exactMatch hgnc:NQO1 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:2874 semapv:UnspecifiedMatching +OMIM:125860 NQO1 skos:exactMatch hgnc.symbol:NQO1 semapv:UnspecifiedMatching OMIM:125860 NQO1 skos:exactMatch ncbigene:1728 semapv:UnspecifiedMatching -OMIM:125950 DBI skos:exactMatch hgnc:DBI semapv:UnspecifiedMatching +OMIM:125950 DBI skos:exactMatch hgnc.symbol:2690 semapv:UnspecifiedMatching +OMIM:125950 DBI skos:exactMatch hgnc.symbol:DBI semapv:UnspecifiedMatching OMIM:125950 DBI skos:exactMatch ncbigene:1622 semapv:UnspecifiedMatching -OMIM:126060 DHFR skos:exactMatch hgnc:DHFR semapv:UnspecifiedMatching +OMIM:126060 DHFR skos:exactMatch hgnc.symbol:2861 semapv:UnspecifiedMatching +OMIM:126060 DHFR skos:exactMatch hgnc.symbol:DHFR semapv:UnspecifiedMatching OMIM:126060 DHFR skos:exactMatch ncbigene:1719 semapv:UnspecifiedMatching -OMIM:126063 DLST skos:exactMatch hgnc:DLST semapv:UnspecifiedMatching +OMIM:126063 DLST skos:exactMatch hgnc.symbol:2911 semapv:UnspecifiedMatching +OMIM:126063 DLST skos:exactMatch hgnc.symbol:DLST semapv:UnspecifiedMatching OMIM:126063 DLST skos:exactMatch ncbigene:1743 semapv:UnspecifiedMatching -OMIM:126064 DHODH skos:exactMatch hgnc:DHODH semapv:UnspecifiedMatching +OMIM:126064 DHODH skos:exactMatch hgnc.symbol:2867 semapv:UnspecifiedMatching +OMIM:126064 DHODH skos:exactMatch hgnc.symbol:DHODH semapv:UnspecifiedMatching OMIM:126064 DHODH skos:exactMatch ncbigene:1723 semapv:UnspecifiedMatching -OMIM:126065 CYP24A1 skos:exactMatch hgnc:CYP24A1 semapv:UnspecifiedMatching +OMIM:126065 CYP24A1 skos:exactMatch hgnc.symbol:2602 semapv:UnspecifiedMatching +OMIM:126065 CYP24A1 skos:exactMatch hgnc.symbol:CYP24A1 semapv:UnspecifiedMatching OMIM:126065 CYP24A1 skos:exactMatch ncbigene:1591 semapv:UnspecifiedMatching -OMIM:126090 PCBD1 skos:exactMatch hgnc:PCBD1 semapv:UnspecifiedMatching +OMIM:126090 PCBD1 skos:exactMatch hgnc.symbol:8646 semapv:UnspecifiedMatching +OMIM:126090 PCBD1 skos:exactMatch hgnc.symbol:PCBD1 semapv:UnspecifiedMatching OMIM:126090 PCBD1 skos:exactMatch ncbigene:5092 semapv:UnspecifiedMatching -OMIM:126110 ARNT skos:exactMatch hgnc:ARNT semapv:UnspecifiedMatching +OMIM:126110 ARNT skos:exactMatch hgnc.symbol:700 semapv:UnspecifiedMatching +OMIM:126110 ARNT skos:exactMatch hgnc.symbol:ARNT semapv:UnspecifiedMatching OMIM:126110 ARNT skos:exactMatch ncbigene:405 semapv:UnspecifiedMatching OMIM:126141 DPP6 skos:exactMatch UMLS:C1414142 semapv:UnspecifiedMatching OMIM:126141 DPP6 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching OMIM:126141 DPP6 skos:exactMatch UMLS:C4225375 semapv:UnspecifiedMatching -OMIM:126141 DPP6 skos:exactMatch hgnc:DPP6 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:3010 semapv:UnspecifiedMatching +OMIM:126141 DPP6 skos:exactMatch hgnc.symbol:DPP6 semapv:UnspecifiedMatching OMIM:126141 DPP6 skos:exactMatch ncbigene:1804 semapv:UnspecifiedMatching -OMIM:126150 HBEGF skos:exactMatch hgnc:HBEGF semapv:UnspecifiedMatching +OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:3059 semapv:UnspecifiedMatching +OMIM:126150 HBEGF skos:exactMatch hgnc.symbol:HBEGF semapv:UnspecifiedMatching OMIM:126150 HBEGF skos:exactMatch ncbigene:1839 semapv:UnspecifiedMatching OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C1868685 semapv:UnspecifiedMatching OMIM:126200 multiple sclerosis, susceptibility to skos:exactMatch UMLS:C3888106 semapv:UnspecifiedMatching -OMIM:126255 DLX2 skos:exactMatch hgnc:DLX2 semapv:UnspecifiedMatching +OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:2915 semapv:UnspecifiedMatching +OMIM:126255 DLX2 skos:exactMatch hgnc.symbol:DLX2 semapv:UnspecifiedMatching OMIM:126255 DLX2 skos:exactMatch ncbigene:1746 semapv:UnspecifiedMatching OMIM:126330 DNCM skos:exactMatch ncbigene:1784 semapv:UnspecifiedMatching -OMIM:126335 GADD45A skos:exactMatch hgnc:GADD45A semapv:UnspecifiedMatching +OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:4095 semapv:UnspecifiedMatching +OMIM:126335 GADD45A skos:exactMatch hgnc.symbol:GADD45A semapv:UnspecifiedMatching OMIM:126335 GADD45A skos:exactMatch ncbigene:1647 semapv:UnspecifiedMatching OMIM:126337 DDIT3 skos:exactMatch UMLS:C1413947 semapv:UnspecifiedMatching -OMIM:126337 DDIT3 skos:exactMatch hgnc:DDIT3 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:2726 semapv:UnspecifiedMatching +OMIM:126337 DDIT3 skos:exactMatch hgnc.symbol:DDIT3 semapv:UnspecifiedMatching OMIM:126337 DDIT3 skos:exactMatch ncbigene:1649 semapv:UnspecifiedMatching -OMIM:126340 ERCC2 skos:exactMatch hgnc:ERCC2 semapv:UnspecifiedMatching +OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:3434 semapv:UnspecifiedMatching +OMIM:126340 ERCC2 skos:exactMatch hgnc.symbol:ERCC2 semapv:UnspecifiedMatching OMIM:126340 ERCC2 skos:exactMatch ncbigene:2068 semapv:UnspecifiedMatching -OMIM:126350 DNASE2 skos:exactMatch hgnc:DNASE2 semapv:UnspecifiedMatching +OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:2960 semapv:UnspecifiedMatching +OMIM:126350 DNASE2 skos:exactMatch hgnc.symbol:DNASE2 semapv:UnspecifiedMatching OMIM:126350 DNASE2 skos:exactMatch ncbigene:1777 semapv:UnspecifiedMatching -OMIM:126375 DNMT1 skos:exactMatch hgnc:DNMT1 semapv:UnspecifiedMatching +OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:2976 semapv:UnspecifiedMatching +OMIM:126375 DNMT1 skos:exactMatch hgnc.symbol:DNMT1 semapv:UnspecifiedMatching OMIM:126375 DNMT1 skos:exactMatch ncbigene:1786 semapv:UnspecifiedMatching -OMIM:126380 ERCC1 skos:exactMatch hgnc:ERCC1 semapv:UnspecifiedMatching +OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:3433 semapv:UnspecifiedMatching +OMIM:126380 ERCC1 skos:exactMatch hgnc.symbol:ERCC1 semapv:UnspecifiedMatching OMIM:126380 ERCC1 skos:exactMatch ncbigene:2067 semapv:UnspecifiedMatching -OMIM:126391 LIG1 skos:exactMatch hgnc:LIG1 semapv:UnspecifiedMatching +OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:6598 semapv:UnspecifiedMatching +OMIM:126391 LIG1 skos:exactMatch hgnc.symbol:LIG1 semapv:UnspecifiedMatching OMIM:126391 LIG1 skos:exactMatch ncbigene:3978 semapv:UnspecifiedMatching -OMIM:126420 TOP1 skos:exactMatch hgnc:TOP1 semapv:UnspecifiedMatching +OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:11986 semapv:UnspecifiedMatching +OMIM:126420 TOP1 skos:exactMatch hgnc.symbol:TOP1 semapv:UnspecifiedMatching OMIM:126420 TOP1 skos:exactMatch ncbigene:7150 semapv:UnspecifiedMatching -OMIM:126430 TOP2A skos:exactMatch hgnc:TOP2A semapv:UnspecifiedMatching +OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:11989 semapv:UnspecifiedMatching +OMIM:126430 TOP2A skos:exactMatch hgnc.symbol:TOP2A semapv:UnspecifiedMatching OMIM:126430 TOP2A skos:exactMatch ncbigene:7153 semapv:UnspecifiedMatching -OMIM:126431 TOP2B skos:exactMatch hgnc:TOP2B semapv:UnspecifiedMatching +OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:11990 semapv:UnspecifiedMatching +OMIM:126431 TOP2B skos:exactMatch hgnc.symbol:TOP2B semapv:UnspecifiedMatching OMIM:126431 TOP2B skos:exactMatch ncbigene:7155 semapv:UnspecifiedMatching -OMIM:126449 DRD1 skos:exactMatch hgnc:DRD1 semapv:UnspecifiedMatching +OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:3020 semapv:UnspecifiedMatching +OMIM:126449 DRD1 skos:exactMatch hgnc.symbol:DRD1 semapv:UnspecifiedMatching OMIM:126449 DRD1 skos:exactMatch ncbigene:1812 semapv:UnspecifiedMatching -OMIM:126450 DRD2 skos:exactMatch hgnc:DRD2 semapv:UnspecifiedMatching +OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:3023 semapv:UnspecifiedMatching +OMIM:126450 DRD2 skos:exactMatch hgnc.symbol:DRD2 semapv:UnspecifiedMatching OMIM:126450 DRD2 skos:exactMatch ncbigene:1813 semapv:UnspecifiedMatching -OMIM:126451 DRD3 skos:exactMatch hgnc:DRD3 semapv:UnspecifiedMatching +OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:3024 semapv:UnspecifiedMatching +OMIM:126451 DRD3 skos:exactMatch hgnc.symbol:DRD3 semapv:UnspecifiedMatching OMIM:126451 DRD3 skos:exactMatch ncbigene:1814 semapv:UnspecifiedMatching -OMIM:126452 DRD4 skos:exactMatch hgnc:DRD4 semapv:UnspecifiedMatching +OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:3025 semapv:UnspecifiedMatching +OMIM:126452 DRD4 skos:exactMatch hgnc.symbol:DRD4 semapv:UnspecifiedMatching OMIM:126452 DRD4 skos:exactMatch ncbigene:1815 semapv:UnspecifiedMatching -OMIM:126453 DRD5 skos:exactMatch hgnc:DRD5 semapv:UnspecifiedMatching +OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:3026 semapv:UnspecifiedMatching +OMIM:126453 DRD5 skos:exactMatch hgnc.symbol:DRD5 semapv:UnspecifiedMatching OMIM:126453 DRD5 skos:exactMatch ncbigene:1816 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch UMLS:C1420213 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch UMLS:C4747621 semapv:UnspecifiedMatching -OMIM:126455 SLC6A3 skos:exactMatch hgnc:SLC6A3 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:11049 semapv:UnspecifiedMatching +OMIM:126455 SLC6A3 skos:exactMatch hgnc.symbol:SLC6A3 semapv:UnspecifiedMatching OMIM:126455 SLC6A3 skos:exactMatch ncbigene:6531 semapv:UnspecifiedMatching +OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1832174 semapv:UnspecifiedMatching OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch UMLS:C1852020 semapv:UnspecifiedMatching -OMIM:126600 doyne honeycomb retinal dystrophy skos:exactMatch orphanet.ordo:75376 semapv:UnspecifiedMatching OMIM:126650 SLC26A3 skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching OMIM:126650 SLC26A3 skos:exactMatch UMLS:C1335836 semapv:UnspecifiedMatching -OMIM:126650 SLC26A3 skos:exactMatch hgnc:SLC26A3 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:3018 semapv:UnspecifiedMatching +OMIM:126650 SLC26A3 skos:exactMatch hgnc.symbol:SLC26A3 semapv:UnspecifiedMatching OMIM:126650 SLC26A3 skos:exactMatch ncbigene:1811 semapv:UnspecifiedMatching -OMIM:126660 DBN1 skos:exactMatch hgnc:DBN1 semapv:UnspecifiedMatching +OMIM:126660 DBN1 skos:exactMatch hgnc.symbol:2695 semapv:UnspecifiedMatching +OMIM:126660 DBN1 skos:exactMatch hgnc.symbol:DBN1 semapv:UnspecifiedMatching OMIM:126660 DBN1 skos:exactMatch ncbigene:1627 semapv:UnspecifiedMatching +OMIM:126700 basal laminar drusen skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching OMIM:126700 basal laminar drusen skos:exactMatch UMLS:C0730295 semapv:UnspecifiedMatching -OMIM:126700 basal laminar drusen skos:exactMatch orphanet.ordo:75376 semapv:UnspecifiedMatching OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching +OMIM:128230 dystonia, dopa-responsive skos:exactMatch Orphanet:98808 semapv:UnspecifiedMatching OMIM:128230 dystonia, dopa-responsive skos:exactMatch UMLS:C1851920 semapv:UnspecifiedMatching -OMIM:128230 dystonia, dopa-responsive skos:exactMatch orphanet.ordo:98808 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch UMLS:C1413902 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch UMLS:C3151184 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch UMLS:C4225291 semapv:UnspecifiedMatching -OMIM:128239 DAG1 skos:exactMatch hgnc:DAG1 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:2666 semapv:UnspecifiedMatching +OMIM:128239 DAG1 skos:exactMatch hgnc.symbol:DAG1 semapv:UnspecifiedMatching OMIM:128239 DAG1 skos:exactMatch ncbigene:1605 semapv:UnspecifiedMatching -OMIM:128240 UTRN skos:exactMatch hgnc:UTRN semapv:UnspecifiedMatching +OMIM:128240 UTRN skos:exactMatch hgnc.symbol:12635 semapv:UnspecifiedMatching +OMIM:128240 UTRN skos:exactMatch hgnc.symbol:UTRN semapv:UnspecifiedMatching OMIM:128240 UTRN skos:exactMatch ncbigene:7402 semapv:UnspecifiedMatching -OMIM:128260 SNRPE skos:exactMatch hgnc:SNRPE semapv:UnspecifiedMatching +OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:11161 semapv:UnspecifiedMatching +OMIM:128260 SNRPE skos:exactMatch hgnc.symbol:SNRPE semapv:UnspecifiedMatching OMIM:128260 SNRPE skos:exactMatch ncbigene:6635 semapv:UnspecifiedMatching -OMIM:128990 EGR1 skos:exactMatch hgnc:EGR1 semapv:UnspecifiedMatching +OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:3238 semapv:UnspecifiedMatching +OMIM:128990 EGR1 skos:exactMatch hgnc.symbol:EGR1 semapv:UnspecifiedMatching OMIM:128990 EGR1 skos:exactMatch ncbigene:1958 semapv:UnspecifiedMatching -OMIM:128992 EGR4 skos:exactMatch hgnc:EGR4 semapv:UnspecifiedMatching +OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:3241 semapv:UnspecifiedMatching +OMIM:128992 EGR4 skos:exactMatch hgnc.symbol:EGR4 semapv:UnspecifiedMatching OMIM:128992 EGR4 skos:exactMatch ncbigene:1961 semapv:UnspecifiedMatching -OMIM:129010 EGR2 skos:exactMatch hgnc:EGR2 semapv:UnspecifiedMatching +OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:3239 semapv:UnspecifiedMatching +OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:EGR2 semapv:UnspecifiedMatching OMIM:129010 EGR2 skos:exactMatch ncbigene:1959 semapv:UnspecifiedMatching -OMIM:129190 NT5E skos:exactMatch hgnc:NT5E semapv:UnspecifiedMatching +OMIM:129190 NT5E skos:exactMatch hgnc.symbol:8021 semapv:UnspecifiedMatching +OMIM:129190 NT5E skos:exactMatch hgnc.symbol:NT5E semapv:UnspecifiedMatching OMIM:129190 NT5E skos:exactMatch ncbigene:4907 semapv:UnspecifiedMatching +OMIM:129200 basan syndrome skos:exactMatch Orphanet:1658 semapv:UnspecifiedMatching OMIM:129200 basan syndrome skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching -OMIM:129200 basan syndrome skos:exactMatch orphanet.ordo:1658 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:129400 rapp-hodgkin syndrome skos:exactMatch Orphanet:3022 semapv:UnspecifiedMatching OMIM:129400 rapp-hodgkin syndrome skos:exactMatch UMLS:C1785148 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch orphanet.ordo:141291 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch orphanet.ordo:199302 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching -OMIM:129400 rapp-hodgkin syndrome skos:exactMatch orphanet.ordo:3022 semapv:UnspecifiedMatching +OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch Orphanet:1899 semapv:UnspecifiedMatching OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch UMLS:C4551623 semapv:UnspecifiedMatching -OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 skos:exactMatch orphanet.ordo:1899 semapv:UnspecifiedMatching +OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch Orphanet:75392 semapv:UnspecifiedMatching OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C0268347 semapv:UnspecifiedMatching OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch UMLS:C4551499 semapv:UnspecifiedMatching -OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 skos:exactMatch orphanet.ordo:75392 semapv:UnspecifiedMatching -OMIM:130120 CELA1 skos:exactMatch hgnc:CELA1 semapv:UnspecifiedMatching +OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:3308 semapv:UnspecifiedMatching +OMIM:130120 CELA1 skos:exactMatch hgnc.symbol:CELA1 semapv:UnspecifiedMatching OMIM:130120 CELA1 skos:exactMatch ncbigene:1990 semapv:UnspecifiedMatching -OMIM:130130 ELANE skos:exactMatch hgnc:ELANE semapv:UnspecifiedMatching +OMIM:130130 ELANE skos:exactMatch hgnc.symbol:3309 semapv:UnspecifiedMatching +OMIM:130130 ELANE skos:exactMatch hgnc.symbol:ELANE semapv:UnspecifiedMatching OMIM:130130 ELANE skos:exactMatch ncbigene:1991 semapv:UnspecifiedMatching -OMIM:130135 SERPINB1 skos:exactMatch hgnc:SERPINB1 semapv:UnspecifiedMatching +OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:3311 semapv:UnspecifiedMatching +OMIM:130135 SERPINB1 skos:exactMatch hgnc.symbol:SERPINB1 semapv:UnspecifiedMatching OMIM:130135 SERPINB1 skos:exactMatch ncbigene:1992 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch UMLS:C0003499 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch UMLS:C1414382 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching -OMIM:130160 ELN skos:exactMatch hgnc:ELN semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch hgnc.symbol:3327 semapv:UnspecifiedMatching +OMIM:130160 ELN skos:exactMatch hgnc.symbol:ELN semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch ncbigene:2006 semapv:UnspecifiedMatching -OMIM:130410 ETFB skos:exactMatch hgnc:ETFB semapv:UnspecifiedMatching +OMIM:130410 ETFB skos:exactMatch hgnc.symbol:3482 semapv:UnspecifiedMatching +OMIM:130410 ETFB skos:exactMatch hgnc.symbol:ETFB semapv:UnspecifiedMatching OMIM:130410 ETFB skos:exactMatch ncbigene:2109 semapv:UnspecifiedMatching -OMIM:130500 EPB41 skos:exactMatch hgnc:EPB41 semapv:UnspecifiedMatching +OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:3377 semapv:UnspecifiedMatching +OMIM:130500 EPB41 skos:exactMatch hgnc.symbol:EPB41 semapv:UnspecifiedMatching OMIM:130500 EPB41 skos:exactMatch ncbigene:2035 semapv:UnspecifiedMatching -OMIM:130590 EEF1A1 skos:exactMatch hgnc:EEF1A1 semapv:UnspecifiedMatching +OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:3189 semapv:UnspecifiedMatching +OMIM:130590 EEF1A1 skos:exactMatch hgnc.symbol:EEF1A1 semapv:UnspecifiedMatching OMIM:130590 EEF1A1 skos:exactMatch ncbigene:1915 semapv:UnspecifiedMatching -OMIM:130592 EEF1D skos:exactMatch hgnc:EEF1D semapv:UnspecifiedMatching +OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:3211 semapv:UnspecifiedMatching +OMIM:130592 EEF1D skos:exactMatch hgnc.symbol:EEF1D semapv:UnspecifiedMatching OMIM:130592 EEF1D skos:exactMatch ncbigene:1936 semapv:UnspecifiedMatching -OMIM:130593 EEF1G skos:exactMatch hgnc:EEF1G semapv:UnspecifiedMatching +OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:3213 semapv:UnspecifiedMatching +OMIM:130593 EEF1G skos:exactMatch hgnc.symbol:EEF1G semapv:UnspecifiedMatching OMIM:130593 EEF1G skos:exactMatch ncbigene:1937 semapv:UnspecifiedMatching -OMIM:130610 EEF2 skos:exactMatch hgnc:EEF2 semapv:UnspecifiedMatching +OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:3214 semapv:UnspecifiedMatching +OMIM:130610 EEF2 skos:exactMatch hgnc.symbol:EEF2 semapv:UnspecifiedMatching OMIM:130610 EEF2 skos:exactMatch ncbigene:1938 semapv:UnspecifiedMatching -OMIM:130620 RPS14 skos:exactMatch hgnc:RPS14 semapv:UnspecifiedMatching +OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:10387 semapv:UnspecifiedMatching +OMIM:130620 RPS14 skos:exactMatch hgnc.symbol:RPS14 semapv:UnspecifiedMatching OMIM:130620 RPS14 skos:exactMatch ncbigene:6208 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:116 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:231120 semapv:UnspecifiedMatching +OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch Orphanet:238613 semapv:UnspecifiedMatching OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C0004903 semapv:UnspecifiedMatching OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch UMLS:C1851719 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch orphanet.ordo:116 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch orphanet.ordo:231120 semapv:UnspecifiedMatching -OMIM:130650 beckwith-wiedemann syndrome skos:exactMatch orphanet.ordo:238613 semapv:UnspecifiedMatching -OMIM:130660 EMILIN1 skos:exactMatch hgnc:EMILIN1 semapv:UnspecifiedMatching +OMIM:130660 EMILIN1 skos:exactMatch hgnc.symbol:19880 semapv:UnspecifiedMatching +OMIM:130660 EMILIN1 skos:exactMatch hgnc.symbol:EMILIN1 semapv:UnspecifiedMatching OMIM:130660 EMILIN1 skos:exactMatch ncbigene:11117 semapv:UnspecifiedMatching +OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch Orphanet:2672 semapv:UnspecifiedMatching OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch UMLS:C1851708 semapv:UnspecifiedMatching -OMIM:130950 encephalopathy, recurrent, of childhood skos:exactMatch orphanet.ordo:2672 semapv:UnspecifiedMatching -OMIM:131170 ERV3 skos:exactMatch hgnc:ERV3-1 semapv:UnspecifiedMatching +OMIM:131170 ERV3 skos:exactMatch hgnc.symbol:3454 semapv:UnspecifiedMatching +OMIM:131170 ERV3 skos:exactMatch hgnc.symbol:ERV3-1 semapv:UnspecifiedMatching OMIM:131170 ERV3 skos:exactMatch ncbigene:2086 semapv:UnspecifiedMatching OMIM:131190 endogenous retroviral pol-like sequence-1 skos:exactMatch UMLS:C1414445 semapv:UnspecifiedMatching -OMIM:131195 ENG skos:exactMatch hgnc:ENG semapv:UnspecifiedMatching +OMIM:131195 ENG skos:exactMatch hgnc.symbol:3349 semapv:UnspecifiedMatching +OMIM:131195 ENG skos:exactMatch hgnc.symbol:ENG semapv:UnspecifiedMatching OMIM:131195 ENG skos:exactMatch ncbigene:2022 semapv:UnspecifiedMatching -OMIM:131210 SELE skos:exactMatch hgnc:SELE semapv:UnspecifiedMatching +OMIM:131210 SELE skos:exactMatch hgnc.symbol:10718 semapv:UnspecifiedMatching +OMIM:131210 SELE skos:exactMatch hgnc.symbol:SELE semapv:UnspecifiedMatching OMIM:131210 SELE skos:exactMatch ncbigene:6401 semapv:UnspecifiedMatching -OMIM:131220 FGF1 skos:exactMatch hgnc:FGF1 semapv:UnspecifiedMatching +OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:3665 semapv:UnspecifiedMatching +OMIM:131220 FGF1 skos:exactMatch hgnc.symbol:FGF1 semapv:UnspecifiedMatching OMIM:131220 FGF1 skos:exactMatch ncbigene:2246 semapv:UnspecifiedMatching -OMIM:131222 TYMP skos:exactMatch hgnc:TYMP semapv:UnspecifiedMatching +OMIM:131222 TYMP skos:exactMatch hgnc.symbol:3148 semapv:UnspecifiedMatching +OMIM:131222 TYMP skos:exactMatch hgnc.symbol:TYMP semapv:UnspecifiedMatching OMIM:131222 TYMP skos:exactMatch ncbigene:1890 semapv:UnspecifiedMatching -OMIM:131230 ANXA5 skos:exactMatch hgnc:ANXA5 semapv:UnspecifiedMatching +OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:543 semapv:UnspecifiedMatching +OMIM:131230 ANXA5 skos:exactMatch hgnc.symbol:ANXA5 semapv:UnspecifiedMatching OMIM:131230 ANXA5 skos:exactMatch ncbigene:308 semapv:UnspecifiedMatching -OMIM:131235 KDELR1 skos:exactMatch hgnc:KDELR1 semapv:UnspecifiedMatching +OMIM:131235 KDELR1 skos:exactMatch hgnc.symbol:6304 semapv:UnspecifiedMatching +OMIM:131235 KDELR1 skos:exactMatch hgnc.symbol:KDELR1 semapv:UnspecifiedMatching OMIM:131235 KDELR1 skos:exactMatch ncbigene:10945 semapv:UnspecifiedMatching OMIM:131240 EDN1 skos:exactMatch UMLS:C1414260 semapv:UnspecifiedMatching OMIM:131240 EDN1 skos:exactMatch UMLS:C2748545 semapv:UnspecifiedMatching OMIM:131240 EDN1 skos:exactMatch UMLS:C3810332 semapv:UnspecifiedMatching OMIM:131240 EDN1 skos:exactMatch UMLS:C5436939 semapv:UnspecifiedMatching -OMIM:131240 EDN1 skos:exactMatch hgnc:EDN1 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch hgnc.symbol:3176 semapv:UnspecifiedMatching +OMIM:131240 EDN1 skos:exactMatch hgnc.symbol:EDN1 semapv:UnspecifiedMatching OMIM:131240 EDN1 skos:exactMatch ncbigene:1906 semapv:UnspecifiedMatching OMIM:131241 EDN2 skos:exactMatch UMLS:C1333329 semapv:UnspecifiedMatching -OMIM:131241 EDN2 skos:exactMatch hgnc:EDN2 semapv:UnspecifiedMatching +OMIM:131241 EDN2 skos:exactMatch hgnc.symbol:3177 semapv:UnspecifiedMatching +OMIM:131241 EDN2 skos:exactMatch hgnc.symbol:EDN2 semapv:UnspecifiedMatching OMIM:131241 EDN2 skos:exactMatch ncbigene:1907 semapv:UnspecifiedMatching -OMIM:131242 EDN3 skos:exactMatch hgnc:EDN3 semapv:UnspecifiedMatching +OMIM:131242 EDN3 skos:exactMatch hgnc.symbol:3178 semapv:UnspecifiedMatching +OMIM:131242 EDN3 skos:exactMatch hgnc.symbol:EDN3 semapv:UnspecifiedMatching OMIM:131242 EDN3 skos:exactMatch ncbigene:1908 semapv:UnspecifiedMatching -OMIM:131243 EDNRA skos:exactMatch hgnc:EDNRA semapv:UnspecifiedMatching +OMIM:131243 EDNRA skos:exactMatch hgnc.symbol:3179 semapv:UnspecifiedMatching +OMIM:131243 EDNRA skos:exactMatch hgnc.symbol:EDNRA semapv:UnspecifiedMatching OMIM:131243 EDNRA skos:exactMatch ncbigene:1909 semapv:UnspecifiedMatching -OMIM:131244 EDNRB skos:exactMatch hgnc:EDNRB semapv:UnspecifiedMatching +OMIM:131244 EDNRB skos:exactMatch hgnc.symbol:3180 semapv:UnspecifiedMatching +OMIM:131244 EDNRB skos:exactMatch hgnc.symbol:EDNRB semapv:UnspecifiedMatching OMIM:131244 EDNRB skos:exactMatch ncbigene:1910 semapv:UnspecifiedMatching -OMIM:131290 EN1 skos:exactMatch hgnc:EN1 semapv:UnspecifiedMatching +OMIM:131290 EN1 skos:exactMatch hgnc.symbol:3342 semapv:UnspecifiedMatching +OMIM:131290 EN1 skos:exactMatch hgnc.symbol:EN1 semapv:UnspecifiedMatching OMIM:131290 EN1 skos:exactMatch ncbigene:2019 semapv:UnspecifiedMatching -OMIM:131310 EN2 skos:exactMatch hgnc:EN2 semapv:UnspecifiedMatching +OMIM:131310 EN2 skos:exactMatch hgnc.symbol:3343 semapv:UnspecifiedMatching +OMIM:131310 EN2 skos:exactMatch hgnc.symbol:EN2 semapv:UnspecifiedMatching OMIM:131310 EN2 skos:exactMatch ncbigene:2020 semapv:UnspecifiedMatching -OMIM:131320 GATA3 skos:exactMatch hgnc:GATA3 semapv:UnspecifiedMatching +OMIM:131320 GATA3 skos:exactMatch hgnc.symbol:4172 semapv:UnspecifiedMatching +OMIM:131320 GATA3 skos:exactMatch hgnc.symbol:GATA3 semapv:UnspecifiedMatching OMIM:131320 GATA3 skos:exactMatch ncbigene:2625 semapv:UnspecifiedMatching -OMIM:131330 PENK skos:exactMatch hgnc:PENK semapv:UnspecifiedMatching +OMIM:131330 PENK skos:exactMatch hgnc.symbol:8831 semapv:UnspecifiedMatching +OMIM:131330 PENK skos:exactMatch hgnc.symbol:PENK semapv:UnspecifiedMatching OMIM:131330 PENK skos:exactMatch ncbigene:5179 semapv:UnspecifiedMatching -OMIM:131340 PDYN skos:exactMatch hgnc:PDYN semapv:UnspecifiedMatching +OMIM:131340 PDYN skos:exactMatch hgnc.symbol:8820 semapv:UnspecifiedMatching +OMIM:131340 PDYN skos:exactMatch hgnc.symbol:PDYN semapv:UnspecifiedMatching OMIM:131340 PDYN skos:exactMatch ncbigene:5173 semapv:UnspecifiedMatching -OMIM:131360 ENO2 skos:exactMatch hgnc:ENO2 semapv:UnspecifiedMatching +OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:3353 semapv:UnspecifiedMatching +OMIM:131360 ENO2 skos:exactMatch hgnc.symbol:ENO2 semapv:UnspecifiedMatching OMIM:131360 ENO2 skos:exactMatch ncbigene:2026 semapv:UnspecifiedMatching -OMIM:131370 ENO3 skos:exactMatch hgnc:ENO3 semapv:UnspecifiedMatching +OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:3354 semapv:UnspecifiedMatching +OMIM:131370 ENO3 skos:exactMatch hgnc.symbol:ENO3 semapv:UnspecifiedMatching OMIM:131370 ENO3 skos:exactMatch ncbigene:2027 semapv:UnspecifiedMatching -OMIM:131375 ENO4 skos:exactMatch hgnc:ENO4 semapv:UnspecifiedMatching +OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:31670 semapv:UnspecifiedMatching +OMIM:131375 ENO4 skos:exactMatch hgnc.symbol:ENO4 semapv:UnspecifiedMatching OMIM:131375 ENO4 skos:exactMatch ncbigene:387712 semapv:UnspecifiedMatching -OMIM:131390 NID1 skos:exactMatch hgnc:NID1 semapv:UnspecifiedMatching +OMIM:131390 NID1 skos:exactMatch hgnc.symbol:7821 semapv:UnspecifiedMatching +OMIM:131390 NID1 skos:exactMatch hgnc.symbol:NID1 semapv:UnspecifiedMatching OMIM:131390 NID1 skos:exactMatch ncbigene:4811 semapv:UnspecifiedMatching -OMIM:131398 RNASE3 skos:exactMatch hgnc:RNASE3 semapv:UnspecifiedMatching +OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:10046 semapv:UnspecifiedMatching +OMIM:131398 RNASE3 skos:exactMatch hgnc.symbol:RNASE3 semapv:UnspecifiedMatching OMIM:131398 RNASE3 skos:exactMatch ncbigene:6037 semapv:UnspecifiedMatching -OMIM:131399 EPX skos:exactMatch hgnc:EPX semapv:UnspecifiedMatching +OMIM:131399 EPX skos:exactMatch hgnc.symbol:3423 semapv:UnspecifiedMatching +OMIM:131399 EPX skos:exactMatch hgnc.symbol:EPX semapv:UnspecifiedMatching OMIM:131399 EPX skos:exactMatch ncbigene:8288 semapv:UnspecifiedMatching -OMIM:131410 RNASE2 skos:exactMatch hgnc:RNASE2 semapv:UnspecifiedMatching +OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:10045 semapv:UnspecifiedMatching +OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:RNASE2 semapv:UnspecifiedMatching OMIM:131410 RNASE2 skos:exactMatch ncbigene:6036 semapv:UnspecifiedMatching -OMIM:131530 EGF skos:exactMatch hgnc:EGF semapv:UnspecifiedMatching +OMIM:131530 EGF skos:exactMatch hgnc.symbol:3229 semapv:UnspecifiedMatching +OMIM:131530 EGF skos:exactMatch hgnc.symbol:EGF semapv:UnspecifiedMatching OMIM:131530 EGF skos:exactMatch ncbigene:1950 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C1414313 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C1851577 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C4016032 semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch UMLS:C4016033 semapv:UnspecifiedMatching -OMIM:131550 EGFR skos:exactMatch hgnc:EGFR semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch hgnc.symbol:3236 semapv:UnspecifiedMatching +OMIM:131550 EGFR skos:exactMatch hgnc.symbol:EGFR semapv:UnspecifiedMatching OMIM:131550 EGFR skos:exactMatch ncbigene:1956 semapv:UnspecifiedMatching -OMIM:131560 FLOT2 skos:exactMatch hgnc:FLOT2 semapv:UnspecifiedMatching +OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:3758 semapv:UnspecifiedMatching +OMIM:131560 FLOT2 skos:exactMatch hgnc.symbol:FLOT2 semapv:UnspecifiedMatching OMIM:131560 FLOT2 skos:exactMatch ncbigene:2319 semapv:UnspecifiedMatching +OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch Orphanet:79410 semapv:UnspecifiedMatching OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch UMLS:C0432321 semapv:UnspecifiedMatching -OMIM:131850 epidermolysis bullosa dystrophica, pretibial skos:exactMatch orphanet.ordo:79410 semapv:UnspecifiedMatching -OMIM:132350 STX2 skos:exactMatch hgnc:STX2 semapv:UnspecifiedMatching +OMIM:132350 STX2 skos:exactMatch hgnc.symbol:3403 semapv:UnspecifiedMatching +OMIM:132350 STX2 skos:exactMatch hgnc.symbol:STX2 semapv:UnspecifiedMatching OMIM:132350 STX2 skos:exactMatch ncbigene:2054 semapv:UnspecifiedMatching +OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch Orphanet:166011 semapv:UnspecifiedMatching OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch UMLS:C1851536 semapv:UnspecifiedMatching -OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness skos:exactMatch orphanet.ordo:166011 semapv:UnspecifiedMatching +OMIM:132600 pilomatrixoma skos:exactMatch Orphanet:91414 semapv:UnspecifiedMatching OMIM:132600 pilomatrixoma skos:exactMatch UMLS:C0206711 semapv:UnspecifiedMatching -OMIM:132600 pilomatrixoma skos:exactMatch orphanet.ordo:91414 semapv:UnspecifiedMatching -OMIM:132810 EPHX1 skos:exactMatch hgnc:EPHX1 semapv:UnspecifiedMatching +OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:3401 semapv:UnspecifiedMatching +OMIM:132810 EPHX1 skos:exactMatch hgnc.symbol:EPHX1 semapv:UnspecifiedMatching OMIM:132810 EPHX1 skos:exactMatch ncbigene:2052 semapv:UnspecifiedMatching -OMIM:132811 EPHX2 skos:exactMatch hgnc:EPHX2 semapv:UnspecifiedMatching +OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:3402 semapv:UnspecifiedMatching +OMIM:132811 EPHX2 skos:exactMatch hgnc.symbol:EPHX2 semapv:UnspecifiedMatching OMIM:132811 EPHX2 skos:exactMatch ncbigene:2053 semapv:UnspecifiedMatching -OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc:EBVS1 semapv:UnspecifiedMatching -OMIM:132880 NR2F6 skos:exactMatch hgnc:NR2F6 semapv:UnspecifiedMatching +OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:3143 semapv:UnspecifiedMatching +OMIM:132850 epstein-barr virus insertion site 1 skos:exactMatch hgnc.symbol:EBVS1 semapv:UnspecifiedMatching +OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:7977 semapv:UnspecifiedMatching +OMIM:132880 NR2F6 skos:exactMatch hgnc.symbol:NR2F6 semapv:UnspecifiedMatching OMIM:132880 NR2F6 skos:exactMatch ncbigene:2063 semapv:UnspecifiedMatching -OMIM:132890 NR2F1 skos:exactMatch hgnc:NR2F1 semapv:UnspecifiedMatching +OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:7975 semapv:UnspecifiedMatching +OMIM:132890 NR2F1 skos:exactMatch hgnc.symbol:NR2F1 semapv:UnspecifiedMatching OMIM:132890 NR2F1 skos:exactMatch ncbigene:7025 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:306577 semapv:UnspecifiedMatching +OMIM:133020 erythermalgia, primary skos:exactMatch Orphanet:90026 semapv:UnspecifiedMatching OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching OMIM:133020 erythermalgia, primary skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch orphanet.ordo:306577 semapv:UnspecifiedMatching -OMIM:133020 erythermalgia, primary skos:exactMatch orphanet.ordo:90026 semapv:UnspecifiedMatching -OMIM:133090 STOM skos:exactMatch hgnc:STOM semapv:UnspecifiedMatching +OMIM:133090 STOM skos:exactMatch hgnc.symbol:3383 semapv:UnspecifiedMatching +OMIM:133090 STOM skos:exactMatch hgnc.symbol:STOM semapv:UnspecifiedMatching OMIM:133090 STOM skos:exactMatch ncbigene:2040 semapv:UnspecifiedMatching -OMIM:133170 EPO skos:exactMatch hgnc:EPO semapv:UnspecifiedMatching +OMIM:133170 EPO skos:exactMatch hgnc.symbol:3415 semapv:UnspecifiedMatching +OMIM:133170 EPO skos:exactMatch hgnc.symbol:EPO semapv:UnspecifiedMatching OMIM:133170 EPO skos:exactMatch ncbigene:2056 semapv:UnspecifiedMatching -OMIM:133171 EPOR skos:exactMatch hgnc:EPOR semapv:UnspecifiedMatching +OMIM:133171 EPOR skos:exactMatch hgnc.symbol:3416 semapv:UnspecifiedMatching +OMIM:133171 EPOR skos:exactMatch hgnc.symbol:EPOR semapv:UnspecifiedMatching OMIM:133171 EPOR skos:exactMatch ncbigene:2057 semapv:UnspecifiedMatching -OMIM:133220 ESA4 skos:exactMatch hgnc:ESA4 semapv:UnspecifiedMatching +OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:3462 semapv:UnspecifiedMatching +OMIM:133220 ESA4 skos:exactMatch hgnc.symbol:ESA4 semapv:UnspecifiedMatching OMIM:133220 ESA4 skos:exactMatch ncbigene:2090 semapv:UnspecifiedMatching -OMIM:133280 ESD skos:exactMatch hgnc:ESD semapv:UnspecifiedMatching +OMIM:133280 ESD skos:exactMatch hgnc.symbol:3465 semapv:UnspecifiedMatching +OMIM:133280 ESD skos:exactMatch hgnc.symbol:ESD semapv:UnspecifiedMatching OMIM:133280 ESD skos:exactMatch ncbigene:2098 semapv:UnspecifiedMatching -OMIM:133290 ESB3 skos:exactMatch hgnc:ESB3 semapv:UnspecifiedMatching +OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:3464 semapv:UnspecifiedMatching +OMIM:133290 ESB3 skos:exactMatch hgnc.symbol:ESB3 semapv:UnspecifiedMatching OMIM:133290 ESB3 skos:exactMatch ncbigene:2097 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C1414461 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C3809250 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C4016037 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch UMLS:C4016038 semapv:UnspecifiedMatching -OMIM:133430 ESR1 skos:exactMatch hgnc:ESR1 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:3467 semapv:UnspecifiedMatching +OMIM:133430 ESR1 skos:exactMatch hgnc.symbol:ESR1 semapv:UnspecifiedMatching OMIM:133430 ESR1 skos:exactMatch ncbigene:2099 semapv:UnspecifiedMatching -OMIM:133435 RUNX1T1 skos:exactMatch hgnc:RUNX1T1 semapv:UnspecifiedMatching +OMIM:133435 RUNX1T1 skos:exactMatch hgnc.symbol:1535 semapv:UnspecifiedMatching +OMIM:133435 RUNX1T1 skos:exactMatch hgnc.symbol:RUNX1T1 semapv:UnspecifiedMatching OMIM:133435 RUNX1T1 skos:exactMatch ncbigene:862 semapv:UnspecifiedMatching -OMIM:133440 EIF4E skos:exactMatch hgnc:EIF4E semapv:UnspecifiedMatching +OMIM:133440 EIF4E skos:exactMatch hgnc.symbol:3287 semapv:UnspecifiedMatching +OMIM:133440 EIF4E skos:exactMatch hgnc.symbol:EIF4E semapv:UnspecifiedMatching OMIM:133440 EIF4E skos:exactMatch ncbigene:1977 semapv:UnspecifiedMatching -OMIM:133450 EWSR1 skos:exactMatch hgnc:EWSR1 semapv:UnspecifiedMatching +OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:3508 semapv:UnspecifiedMatching +OMIM:133450 EWSR1 skos:exactMatch hgnc.symbol:EWSR1 semapv:UnspecifiedMatching OMIM:133450 EWSR1 skos:exactMatch ncbigene:2130 semapv:UnspecifiedMatching -OMIM:133510 ERCC3 skos:exactMatch hgnc:ERCC3 semapv:UnspecifiedMatching +OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:3435 semapv:UnspecifiedMatching +OMIM:133510 ERCC3 skos:exactMatch hgnc.symbol:ERCC3 semapv:UnspecifiedMatching OMIM:133510 ERCC3 skos:exactMatch ncbigene:2071 semapv:UnspecifiedMatching -OMIM:133520 ERCC4 skos:exactMatch hgnc:ERCC4 semapv:UnspecifiedMatching +OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:3436 semapv:UnspecifiedMatching +OMIM:133520 ERCC4 skos:exactMatch hgnc.symbol:ERCC4 semapv:UnspecifiedMatching OMIM:133520 ERCC4 skos:exactMatch ncbigene:2072 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C1333359 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C1851443 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch UMLS:C4016040 semapv:UnspecifiedMatching -OMIM:133530 ERCC5 skos:exactMatch hgnc:ERCC5 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:3437 semapv:UnspecifiedMatching +OMIM:133530 ERCC5 skos:exactMatch hgnc.symbol:ERCC5 semapv:UnspecifiedMatching OMIM:133530 ERCC5 skos:exactMatch ncbigene:2073 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90321 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90322 semapv:UnspecifiedMatching +OMIM:133540 Cockayne syndrome B skos:exactMatch Orphanet:90324 semapv:UnspecifiedMatching OMIM:133540 Cockayne syndrome B skos:exactMatch UMLS:C0751038 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch orphanet.ordo:191 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch orphanet.ordo:90321 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch orphanet.ordo:90322 semapv:UnspecifiedMatching -OMIM:133540 Cockayne syndrome B skos:exactMatch orphanet.ordo:90324 semapv:UnspecifiedMatching -OMIM:133550 SLC1A1 skos:exactMatch hgnc:SLC1A1 semapv:UnspecifiedMatching +OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:10939 semapv:UnspecifiedMatching +OMIM:133550 SLC1A1 skos:exactMatch hgnc.symbol:SLC1A1 semapv:UnspecifiedMatching OMIM:133550 SLC1A1 skos:exactMatch ncbigene:6505 semapv:UnspecifiedMatching +OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching -OMIM:133700 exostoses, multiple, iia 1 skos:exactMatch orphanet.ordo:321 semapv:UnspecifiedMatching +OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch Orphanet:321 semapv:UnspecifiedMatching OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching -OMIM:133701 exostoses, multiple, iia 2 skos:exactMatch orphanet.ordo:321 semapv:UnspecifiedMatching -OMIM:134350 CFD skos:exactMatch hgnc:CFD semapv:UnspecifiedMatching +OMIM:134350 CFD skos:exactMatch hgnc.symbol:2771 semapv:UnspecifiedMatching +OMIM:134350 CFD skos:exactMatch hgnc.symbol:CFD semapv:UnspecifiedMatching OMIM:134350 CFD skos:exactMatch ncbigene:1675 semapv:UnspecifiedMatching -OMIM:134370 CFH skos:exactMatch hgnc:CFH semapv:UnspecifiedMatching +OMIM:134370 CFH skos:exactMatch hgnc.symbol:4883 semapv:UnspecifiedMatching +OMIM:134370 CFH skos:exactMatch hgnc.symbol:CFH semapv:UnspecifiedMatching OMIM:134370 CFH skos:exactMatch ncbigene:3075 semapv:UnspecifiedMatching -OMIM:134371 CFHR1 skos:exactMatch hgnc:CFHR1 semapv:UnspecifiedMatching +OMIM:134371 CFHR1 skos:exactMatch hgnc.symbol:4888 semapv:UnspecifiedMatching +OMIM:134371 CFHR1 skos:exactMatch hgnc.symbol:CFHR1 semapv:UnspecifiedMatching OMIM:134371 CFHR1 skos:exactMatch ncbigene:3078 semapv:UnspecifiedMatching OMIM:134390 F3 skos:exactMatch UMLS:C1333522 semapv:UnspecifiedMatching -OMIM:134390 F3 skos:exactMatch hgnc:F3 semapv:UnspecifiedMatching +OMIM:134390 F3 skos:exactMatch hgnc.symbol:3541 semapv:UnspecifiedMatching +OMIM:134390 F3 skos:exactMatch hgnc.symbol:F3 semapv:UnspecifiedMatching OMIM:134390 F3 skos:exactMatch ncbigene:2152 semapv:UnspecifiedMatching -OMIM:134570 F13A1 skos:exactMatch hgnc:F13A1 semapv:UnspecifiedMatching +OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:3531 semapv:UnspecifiedMatching +OMIM:134570 F13A1 skos:exactMatch hgnc.symbol:F13A1 semapv:UnspecifiedMatching OMIM:134570 F13A1 skos:exactMatch ncbigene:2162 semapv:UnspecifiedMatching -OMIM:134580 F13B skos:exactMatch hgnc:F13B semapv:UnspecifiedMatching +OMIM:134580 F13B skos:exactMatch hgnc.symbol:3534 semapv:UnspecifiedMatching +OMIM:134580 F13B skos:exactMatch hgnc.symbol:F13B semapv:UnspecifiedMatching OMIM:134580 F13B skos:exactMatch ncbigene:2165 semapv:UnspecifiedMatching +OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C0341703 semapv:UnspecifiedMatching OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching -OMIM:134600 fanconi renotubular syndrome 1 skos:exactMatch orphanet.ordo:3337 semapv:UnspecifiedMatching +OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching -OMIM:134610 familial mediterranean fever, autosomal dominant skos:exactMatch orphanet.ordo:342 semapv:UnspecifiedMatching -OMIM:134629 FDPS skos:exactMatch hgnc:FDPS semapv:UnspecifiedMatching +OMIM:134629 FDPS skos:exactMatch hgnc.symbol:3631 semapv:UnspecifiedMatching +OMIM:134629 FDPS skos:exactMatch hgnc.symbol:FDPS semapv:UnspecifiedMatching OMIM:134629 FDPS skos:exactMatch ncbigene:2224 semapv:UnspecifiedMatching -OMIM:134635 FNTA skos:exactMatch hgnc:FNTA semapv:UnspecifiedMatching +OMIM:134635 FNTA skos:exactMatch hgnc.symbol:3782 semapv:UnspecifiedMatching +OMIM:134635 FNTA skos:exactMatch hgnc.symbol:FNTA semapv:UnspecifiedMatching OMIM:134635 FNTA skos:exactMatch ncbigene:2339 semapv:UnspecifiedMatching -OMIM:134636 FNTB skos:exactMatch hgnc:FNTB semapv:UnspecifiedMatching +OMIM:134636 FNTB skos:exactMatch hgnc.symbol:3785 semapv:UnspecifiedMatching +OMIM:134636 FNTB skos:exactMatch hgnc.symbol:FNTB semapv:UnspecifiedMatching OMIM:134636 FNTB skos:exactMatch ncbigene:2342 semapv:UnspecifiedMatching -OMIM:134637 FAS skos:exactMatch hgnc:FAS semapv:UnspecifiedMatching +OMIM:134637 FAS skos:exactMatch hgnc.symbol:11920 semapv:UnspecifiedMatching +OMIM:134637 FAS skos:exactMatch hgnc.symbol:FAS semapv:UnspecifiedMatching OMIM:134637 FAS skos:exactMatch ncbigene:355 semapv:UnspecifiedMatching -OMIM:134638 FASLG skos:exactMatch hgnc:FASLG semapv:UnspecifiedMatching +OMIM:134638 FASLG skos:exactMatch hgnc.symbol:11936 semapv:UnspecifiedMatching +OMIM:134638 FASLG skos:exactMatch hgnc.symbol:FASLG semapv:UnspecifiedMatching OMIM:134638 FASLG skos:exactMatch ncbigene:356 semapv:UnspecifiedMatching -OMIM:134640 FABP2 skos:exactMatch hgnc:FABP2 semapv:UnspecifiedMatching +OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:3556 semapv:UnspecifiedMatching +OMIM:134640 FABP2 skos:exactMatch hgnc.symbol:FABP2 semapv:UnspecifiedMatching OMIM:134640 FABP2 skos:exactMatch ncbigene:2169 semapv:UnspecifiedMatching -OMIM:134650 FABP1 skos:exactMatch hgnc:FABP1 semapv:UnspecifiedMatching +OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:3555 semapv:UnspecifiedMatching +OMIM:134650 FABP1 skos:exactMatch hgnc.symbol:FABP1 semapv:UnspecifiedMatching OMIM:134650 FABP1 skos:exactMatch ncbigene:2168 semapv:UnspecifiedMatching -OMIM:134651 FABP3 skos:exactMatch hgnc:FABP3 semapv:UnspecifiedMatching +OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:3557 semapv:UnspecifiedMatching +OMIM:134651 FABP3 skos:exactMatch hgnc.symbol:FABP3 semapv:UnspecifiedMatching OMIM:134651 FABP3 skos:exactMatch ncbigene:2170 semapv:UnspecifiedMatching -OMIM:134660 GSTP1 skos:exactMatch hgnc:GSTP1 semapv:UnspecifiedMatching +OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:4638 semapv:UnspecifiedMatching +OMIM:134660 GSTP1 skos:exactMatch hgnc.symbol:GSTP1 semapv:UnspecifiedMatching OMIM:134660 GSTP1 skos:exactMatch ncbigene:2950 semapv:UnspecifiedMatching -OMIM:134690 FAU skos:exactMatch hgnc:FAU semapv:UnspecifiedMatching +OMIM:134690 FAU skos:exactMatch hgnc.symbol:3597 semapv:UnspecifiedMatching +OMIM:134690 FAU skos:exactMatch hgnc.symbol:FAU semapv:UnspecifiedMatching OMIM:134690 FAU skos:exactMatch ncbigene:2197 semapv:UnspecifiedMatching -OMIM:134770 FTH1 skos:exactMatch hgnc:FTH1 semapv:UnspecifiedMatching +OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:3976 semapv:UnspecifiedMatching +OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:FTH1 semapv:UnspecifiedMatching OMIM:134770 FTH1 skos:exactMatch ncbigene:2495 semapv:UnspecifiedMatching -OMIM:134790 FTL skos:exactMatch hgnc:FTL semapv:UnspecifiedMatching +OMIM:134790 FTL skos:exactMatch hgnc.symbol:3999 semapv:UnspecifiedMatching +OMIM:134790 FTL skos:exactMatch hgnc.symbol:FTL semapv:UnspecifiedMatching OMIM:134790 FTL skos:exactMatch ncbigene:2512 semapv:UnspecifiedMatching -OMIM:134795 FBL skos:exactMatch hgnc:FBL semapv:UnspecifiedMatching +OMIM:134795 FBL skos:exactMatch hgnc.symbol:3599 semapv:UnspecifiedMatching +OMIM:134795 FBL skos:exactMatch hgnc.symbol:FBL semapv:UnspecifiedMatching OMIM:134795 FBL skos:exactMatch ncbigene:2091 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C0024796 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C0265287 semapv:UnspecifiedMatching @@ -2064,312 +2744,413 @@ OMIM:134797 FBN1 skos:exactMatch UMLS:C4016057 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016059 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4016060 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch UMLS:C4310796 semapv:UnspecifiedMatching -OMIM:134797 FBN1 skos:exactMatch hgnc:FBN1 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:3603 semapv:UnspecifiedMatching +OMIM:134797 FBN1 skos:exactMatch hgnc.symbol:FBN1 semapv:UnspecifiedMatching OMIM:134797 FBN1 skos:exactMatch ncbigene:2200 semapv:UnspecifiedMatching -OMIM:134820 FGA skos:exactMatch hgnc:FGA semapv:UnspecifiedMatching +OMIM:134820 FGA skos:exactMatch hgnc.symbol:3661 semapv:UnspecifiedMatching +OMIM:134820 FGA skos:exactMatch hgnc.symbol:FGA semapv:UnspecifiedMatching OMIM:134820 FGA skos:exactMatch ncbigene:2243 semapv:UnspecifiedMatching -OMIM:134830 FGB skos:exactMatch hgnc:FGB semapv:UnspecifiedMatching +OMIM:134830 FGB skos:exactMatch hgnc.symbol:3662 semapv:UnspecifiedMatching +OMIM:134830 FGB skos:exactMatch hgnc.symbol:FGB semapv:UnspecifiedMatching OMIM:134830 FGB skos:exactMatch ncbigene:2244 semapv:UnspecifiedMatching -OMIM:134850 FGG skos:exactMatch hgnc:FGG semapv:UnspecifiedMatching +OMIM:134850 FGG skos:exactMatch hgnc.symbol:3694 semapv:UnspecifiedMatching +OMIM:134850 FGG skos:exactMatch hgnc.symbol:FGG semapv:UnspecifiedMatching OMIM:134850 FGG skos:exactMatch ncbigene:2266 semapv:UnspecifiedMatching -OMIM:134920 FGF2 skos:exactMatch hgnc:FGF2 semapv:UnspecifiedMatching +OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:3676 semapv:UnspecifiedMatching +OMIM:134920 FGF2 skos:exactMatch hgnc.symbol:FGF2 semapv:UnspecifiedMatching OMIM:134920 FGF2 skos:exactMatch ncbigene:2247 semapv:UnspecifiedMatching -OMIM:134921 FGF6 skos:exactMatch hgnc:FGF6 semapv:UnspecifiedMatching +OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:3684 semapv:UnspecifiedMatching +OMIM:134921 FGF6 skos:exactMatch hgnc.symbol:FGF6 semapv:UnspecifiedMatching OMIM:134921 FGF6 skos:exactMatch ncbigene:2251 semapv:UnspecifiedMatching -OMIM:134934 FGFR3 skos:exactMatch hgnc:FGFR3 semapv:UnspecifiedMatching +OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:3690 semapv:UnspecifiedMatching +OMIM:134934 FGFR3 skos:exactMatch hgnc.symbol:FGFR3 semapv:UnspecifiedMatching OMIM:134934 FGFR3 skos:exactMatch ncbigene:2261 semapv:UnspecifiedMatching -OMIM:134935 FGFR4 skos:exactMatch hgnc:FGFR4 semapv:UnspecifiedMatching +OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:3691 semapv:UnspecifiedMatching +OMIM:134935 FGFR4 skos:exactMatch hgnc.symbol:FGFR4 semapv:UnspecifiedMatching OMIM:134935 FGFR4 skos:exactMatch ncbigene:2264 semapv:UnspecifiedMatching +OMIM:135290 desmoid disease, hereditary skos:exactMatch Orphanet:873 semapv:UnspecifiedMatching OMIM:135290 desmoid disease, hereditary skos:exactMatch UMLS:C1851124 semapv:UnspecifiedMatching -OMIM:135290 desmoid disease, hereditary skos:exactMatch orphanet.ordo:873 semapv:UnspecifiedMatching -OMIM:135600 FN1 skos:exactMatch hgnc:FN1 semapv:UnspecifiedMatching +OMIM:135600 FN1 skos:exactMatch hgnc.symbol:3778 semapv:UnspecifiedMatching +OMIM:135600 FN1 skos:exactMatch hgnc.symbol:FN1 semapv:UnspecifiedMatching OMIM:135600 FN1 skos:exactMatch ncbigene:2335 semapv:UnspecifiedMatching -OMIM:135620 ITGA5 skos:exactMatch hgnc:ITGA5 semapv:UnspecifiedMatching +OMIM:135620 ITGA5 skos:exactMatch hgnc.symbol:6141 semapv:UnspecifiedMatching +OMIM:135620 ITGA5 skos:exactMatch hgnc.symbol:ITGA5 semapv:UnspecifiedMatching OMIM:135620 ITGA5 skos:exactMatch ncbigene:3678 semapv:UnspecifiedMatching -OMIM:135630 ITGB1 skos:exactMatch hgnc:ITGB1 semapv:UnspecifiedMatching +OMIM:135630 ITGB1 skos:exactMatch hgnc.symbol:6153 semapv:UnspecifiedMatching +OMIM:135630 ITGB1 skos:exactMatch hgnc.symbol:ITGB1 semapv:UnspecifiedMatching OMIM:135630 ITGB1 skos:exactMatch ncbigene:3688 semapv:UnspecifiedMatching +OMIM:135750 laurin-sandrow syndrome skos:exactMatch Orphanet:2378 semapv:UnspecifiedMatching OMIM:135750 laurin-sandrow syndrome skos:exactMatch UMLS:C1851100 semapv:UnspecifiedMatching -OMIM:135750 laurin-sandrow syndrome skos:exactMatch orphanet.ordo:2378 semapv:UnspecifiedMatching -OMIM:135820 FBLN1 skos:exactMatch hgnc:FBLN1 semapv:UnspecifiedMatching +OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:3600 semapv:UnspecifiedMatching +OMIM:135820 FBLN1 skos:exactMatch hgnc.symbol:FBLN1 semapv:UnspecifiedMatching OMIM:135820 FBLN1 skos:exactMatch ncbigene:2192 semapv:UnspecifiedMatching -OMIM:135821 FBLN2 skos:exactMatch hgnc:FBLN2 semapv:UnspecifiedMatching +OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:3601 semapv:UnspecifiedMatching +OMIM:135821 FBLN2 skos:exactMatch hgnc.symbol:FBLN2 semapv:UnspecifiedMatching OMIM:135821 FBLN2 skos:exactMatch ncbigene:2199 semapv:UnspecifiedMatching +OMIM:135900 coffin-siris syndrome 1 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C0265338 semapv:UnspecifiedMatching OMIM:135900 coffin-siris syndrome 1 skos:exactMatch UMLS:C3281201 semapv:UnspecifiedMatching -OMIM:135900 coffin-siris syndrome 1 skos:exactMatch orphanet.ordo:1465 semapv:UnspecifiedMatching -OMIM:135940 FLG skos:exactMatch hgnc:FLG semapv:UnspecifiedMatching +OMIM:135940 FLG skos:exactMatch hgnc.symbol:3748 semapv:UnspecifiedMatching +OMIM:135940 FLG skos:exactMatch hgnc.symbol:FLG semapv:UnspecifiedMatching OMIM:135940 FLG skos:exactMatch ncbigene:2312 semapv:UnspecifiedMatching -OMIM:136130 FMO1 skos:exactMatch hgnc:FMO1 semapv:UnspecifiedMatching +OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:3769 semapv:UnspecifiedMatching +OMIM:136130 FMO1 skos:exactMatch hgnc.symbol:FMO1 semapv:UnspecifiedMatching OMIM:136130 FMO1 skos:exactMatch ncbigene:2326 semapv:UnspecifiedMatching -OMIM:136131 FMO4 skos:exactMatch hgnc:FMO4 semapv:UnspecifiedMatching +OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:3772 semapv:UnspecifiedMatching +OMIM:136131 FMO4 skos:exactMatch hgnc.symbol:FMO4 semapv:UnspecifiedMatching OMIM:136131 FMO4 skos:exactMatch ncbigene:2329 semapv:UnspecifiedMatching -OMIM:136132 FMO3 skos:exactMatch hgnc:FMO3 semapv:UnspecifiedMatching +OMIM:136132 FMO3 skos:exactMatch hgnc.symbol:3771 semapv:UnspecifiedMatching +OMIM:136132 FMO3 skos:exactMatch hgnc.symbol:FMO3 semapv:UnspecifiedMatching OMIM:136132 FMO3 skos:exactMatch ncbigene:2328 semapv:UnspecifiedMatching -OMIM:136350 FGFR1 skos:exactMatch hgnc:FGFR1 semapv:UnspecifiedMatching +OMIM:136350 FGFR1 skos:exactMatch hgnc.symbol:3688 semapv:UnspecifiedMatching +OMIM:136350 FGFR1 skos:exactMatch hgnc.symbol:FGFR1 semapv:UnspecifiedMatching OMIM:136350 FGFR1 skos:exactMatch ncbigene:2260 semapv:UnspecifiedMatching -OMIM:136351 FLT3 skos:exactMatch hgnc:FLT3 semapv:UnspecifiedMatching +OMIM:136351 FLT3 skos:exactMatch hgnc.symbol:3765 semapv:UnspecifiedMatching +OMIM:136351 FLT3 skos:exactMatch hgnc.symbol:FLT3 semapv:UnspecifiedMatching OMIM:136351 FLT3 skos:exactMatch ncbigene:2322 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch UMLS:C1333569 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch UMLS:C4016109 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching -OMIM:136352 FLT4 skos:exactMatch hgnc:FLT4 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:3767 semapv:UnspecifiedMatching +OMIM:136352 FLT4 skos:exactMatch hgnc.symbol:FLT4 semapv:UnspecifiedMatching OMIM:136352 FLT4 skos:exactMatch ncbigene:2324 semapv:UnspecifiedMatching OMIM:136425 FOLR2 skos:exactMatch UMLS:C1414664 semapv:UnspecifiedMatching -OMIM:136425 FOLR2 skos:exactMatch hgnc:FOLR2 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:3793 semapv:UnspecifiedMatching +OMIM:136425 FOLR2 skos:exactMatch hgnc.symbol:FOLR2 semapv:UnspecifiedMatching OMIM:136425 FOLR2 skos:exactMatch ncbigene:2350 semapv:UnspecifiedMatching OMIM:136430 FOLR1 skos:exactMatch UMLS:C1414662 semapv:UnspecifiedMatching OMIM:136430 FOLR1 skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching -OMIM:136430 FOLR1 skos:exactMatch hgnc:FOLR1 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:3791 semapv:UnspecifiedMatching +OMIM:136430 FOLR1 skos:exactMatch hgnc.symbol:FOLR1 semapv:UnspecifiedMatching OMIM:136430 FOLR1 skos:exactMatch ncbigene:2348 semapv:UnspecifiedMatching -OMIM:136435 FSHR skos:exactMatch hgnc:FSHR semapv:UnspecifiedMatching +OMIM:136435 FSHR skos:exactMatch hgnc.symbol:3969 semapv:UnspecifiedMatching +OMIM:136435 FSHR skos:exactMatch hgnc.symbol:FSHR semapv:UnspecifiedMatching OMIM:136435 FSHR skos:exactMatch ncbigene:2492 semapv:UnspecifiedMatching -OMIM:136440 KDSR skos:exactMatch hgnc:KDSR semapv:UnspecifiedMatching +OMIM:136440 KDSR skos:exactMatch hgnc.symbol:4021 semapv:UnspecifiedMatching +OMIM:136440 KDSR skos:exactMatch hgnc.symbol:KDSR semapv:UnspecifiedMatching OMIM:136440 KDSR skos:exactMatch ncbigene:2531 semapv:UnspecifiedMatching OMIM:136470 FST skos:exactMatch UMLS:C1414830 semapv:UnspecifiedMatching OMIM:136470 FST skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:136470 FST skos:exactMatch hgnc:FST semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch hgnc.symbol:3971 semapv:UnspecifiedMatching +OMIM:136470 FST skos:exactMatch hgnc.symbol:FST semapv:UnspecifiedMatching OMIM:136470 FST skos:exactMatch ncbigene:10468 semapv:UnspecifiedMatching -OMIM:136510 FPGS skos:exactMatch hgnc:FPGS semapv:UnspecifiedMatching +OMIM:136510 FPGS skos:exactMatch hgnc.symbol:3824 semapv:UnspecifiedMatching +OMIM:136510 FPGS skos:exactMatch hgnc.symbol:FPGS semapv:UnspecifiedMatching OMIM:136510 FPGS skos:exactMatch ncbigene:2356 semapv:UnspecifiedMatching -OMIM:136515 FOSL1 skos:exactMatch hgnc:FOSL1 semapv:UnspecifiedMatching +OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:13718 semapv:UnspecifiedMatching +OMIM:136515 FOSL1 skos:exactMatch hgnc.symbol:FOSL1 semapv:UnspecifiedMatching OMIM:136515 FOSL1 skos:exactMatch ncbigene:8061 semapv:UnspecifiedMatching -OMIM:136530 FSHB skos:exactMatch hgnc:FSHB semapv:UnspecifiedMatching +OMIM:136530 FSHB skos:exactMatch hgnc.symbol:3964 semapv:UnspecifiedMatching +OMIM:136530 FSHB skos:exactMatch hgnc.symbol:FSHB semapv:UnspecifiedMatching OMIM:136530 FSHB skos:exactMatch ncbigene:2488 semapv:UnspecifiedMatching -OMIM:136533 FOXO1A skos:exactMatch hgnc:FOXO1 semapv:UnspecifiedMatching +OMIM:136533 FOXO1A skos:exactMatch hgnc.symbol:3819 semapv:UnspecifiedMatching +OMIM:136533 FOXO1A skos:exactMatch hgnc.symbol:FOXO1 semapv:UnspecifiedMatching OMIM:136533 FOXO1A skos:exactMatch ncbigene:2308 semapv:UnspecifiedMatching -OMIM:136535 FMN1 skos:exactMatch hgnc:FMN1 semapv:UnspecifiedMatching +OMIM:136535 FMN1 skos:exactMatch hgnc.symbol:3768 semapv:UnspecifiedMatching +OMIM:136535 FMN1 skos:exactMatch hgnc.symbol:FMN1 semapv:UnspecifiedMatching OMIM:136535 FMN1 skos:exactMatch ncbigene:342184 semapv:UnspecifiedMatching OMIM:136537 FPR1 skos:exactMatch UMLS:C1333574 semapv:UnspecifiedMatching OMIM:136537 FPR1 skos:exactMatch UMLS:C5394557 semapv:UnspecifiedMatching -OMIM:136537 FPR1 skos:exactMatch hgnc:FPR1 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:3826 semapv:UnspecifiedMatching +OMIM:136537 FPR1 skos:exactMatch hgnc.symbol:FPR1 semapv:UnspecifiedMatching OMIM:136537 FPR1 skos:exactMatch ncbigene:2357 semapv:UnspecifiedMatching -OMIM:136538 FPR2 skos:exactMatch hgnc:FPR2 semapv:UnspecifiedMatching +OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:3827 semapv:UnspecifiedMatching +OMIM:136538 FPR2 skos:exactMatch hgnc.symbol:FPR2 semapv:UnspecifiedMatching OMIM:136538 FPR2 skos:exactMatch ncbigene:2358 semapv:UnspecifiedMatching -OMIM:136539 FPR3 skos:exactMatch hgnc:FPR3 semapv:UnspecifiedMatching +OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:3828 semapv:UnspecifiedMatching +OMIM:136539 FPR3 skos:exactMatch hgnc.symbol:FPR3 semapv:UnspecifiedMatching OMIM:136539 FPR3 skos:exactMatch ncbigene:2359 semapv:UnspecifiedMatching +OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch Orphanet:75327 semapv:UnspecifiedMatching OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching -OMIM:136550 macular dystrophy, retinal, 1, north carolina iia skos:exactMatch orphanet.ordo:75327 semapv:UnspecifiedMatching +OMIM:136760 frontonasal dysplasia 1 skos:exactMatch Orphanet:391474 semapv:UnspecifiedMatching OMIM:136760 frontonasal dysplasia 1 skos:exactMatch UMLS:C1876203 semapv:UnspecifiedMatching -OMIM:136760 frontonasal dysplasia 1 skos:exactMatch orphanet.ordo:391474 semapv:UnspecifiedMatching -OMIM:136820 FUCA2 skos:exactMatch hgnc:FUCA2 semapv:UnspecifiedMatching +OMIM:136820 FUCA2 skos:exactMatch hgnc.symbol:4008 semapv:UnspecifiedMatching +OMIM:136820 FUCA2 skos:exactMatch hgnc.symbol:FUCA2 semapv:UnspecifiedMatching OMIM:136820 FUCA2 skos:exactMatch ncbigene:2519 semapv:UnspecifiedMatching -OMIM:136835 FUT5 skos:exactMatch hgnc:FUT5 semapv:UnspecifiedMatching +OMIM:136835 FUT5 skos:exactMatch hgnc.symbol:4016 semapv:UnspecifiedMatching +OMIM:136835 FUT5 skos:exactMatch hgnc.symbol:FUT5 semapv:UnspecifiedMatching OMIM:136835 FUT5 skos:exactMatch ncbigene:2527 semapv:UnspecifiedMatching -OMIM:136836 FUT6 skos:exactMatch hgnc:FUT6 semapv:UnspecifiedMatching +OMIM:136836 FUT6 skos:exactMatch hgnc.symbol:4017 semapv:UnspecifiedMatching +OMIM:136836 FUT6 skos:exactMatch hgnc.symbol:FUT6 semapv:UnspecifiedMatching OMIM:136836 FUT6 skos:exactMatch ncbigene:2528 semapv:UnspecifiedMatching OMIM:136850 FH skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching OMIM:136850 FH skos:exactMatch UMLS:C1366530 semapv:UnspecifiedMatching OMIM:136850 FH skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching -OMIM:136850 FH skos:exactMatch hgnc:FH semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch hgnc.symbol:3700 semapv:UnspecifiedMatching +OMIM:136850 FH skos:exactMatch hgnc.symbol:FH semapv:UnspecifiedMatching OMIM:136850 FH skos:exactMatch ncbigene:2271 semapv:UnspecifiedMatching -OMIM:136950 FURIN skos:exactMatch hgnc:FURIN semapv:UnspecifiedMatching +OMIM:136950 FURIN skos:exactMatch hgnc.symbol:8568 semapv:UnspecifiedMatching +OMIM:136950 FURIN skos:exactMatch hgnc.symbol:FURIN semapv:UnspecifiedMatching OMIM:136950 FURIN skos:exactMatch ncbigene:5045 semapv:UnspecifiedMatching OMIM:137010 FEA skos:exactMatch ncbigene:7959 semapv:UnspecifiedMatching -OMIM:137020 GFUS skos:exactMatch hgnc:GFUS semapv:UnspecifiedMatching +OMIM:137020 GFUS skos:exactMatch hgnc.symbol:12390 semapv:UnspecifiedMatching +OMIM:137020 GFUS skos:exactMatch hgnc.symbol:GFUS semapv:UnspecifiedMatching OMIM:137020 GFUS skos:exactMatch ncbigene:7264 semapv:UnspecifiedMatching -OMIM:137025 FYN skos:exactMatch hgnc:FYN semapv:UnspecifiedMatching +OMIM:137025 FYN skos:exactMatch hgnc.symbol:4037 semapv:UnspecifiedMatching +OMIM:137025 FYN skos:exactMatch hgnc.symbol:FYN semapv:UnspecifiedMatching OMIM:137025 FYN skos:exactMatch ncbigene:2534 semapv:UnspecifiedMatching -OMIM:137026 GRK4 skos:exactMatch hgnc:GRK4 semapv:UnspecifiedMatching +OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:4543 semapv:UnspecifiedMatching +OMIM:137026 GRK4 skos:exactMatch hgnc.symbol:GRK4 semapv:UnspecifiedMatching OMIM:137026 GRK4 skos:exactMatch ncbigene:2868 semapv:UnspecifiedMatching -OMIM:137028 GALK2 skos:exactMatch hgnc:GALK2 semapv:UnspecifiedMatching +OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:4119 semapv:UnspecifiedMatching +OMIM:137028 GALK2 skos:exactMatch hgnc.symbol:GALK2 semapv:UnspecifiedMatching OMIM:137028 GALK2 skos:exactMatch ncbigene:2585 semapv:UnspecifiedMatching OMIM:137030 GALM skos:exactMatch UMLS:C1428343 semapv:UnspecifiedMatching OMIM:137030 GALM skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching -OMIM:137030 GALM skos:exactMatch hgnc:GALM semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch hgnc.symbol:24063 semapv:UnspecifiedMatching +OMIM:137030 GALM skos:exactMatch hgnc.symbol:GALM semapv:UnspecifiedMatching OMIM:137030 GALM skos:exactMatch ncbigene:130589 semapv:UnspecifiedMatching -OMIM:137035 GAL skos:exactMatch hgnc:GAL semapv:UnspecifiedMatching +OMIM:137035 GAL skos:exactMatch hgnc.symbol:4114 semapv:UnspecifiedMatching +OMIM:137035 GAL skos:exactMatch hgnc.symbol:GAL semapv:UnspecifiedMatching OMIM:137035 GAL skos:exactMatch ncbigene:51083 semapv:UnspecifiedMatching -OMIM:137060 B4GALT1 skos:exactMatch hgnc:B4GALT1 semapv:UnspecifiedMatching +OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:924 semapv:UnspecifiedMatching +OMIM:137060 B4GALT1 skos:exactMatch hgnc.symbol:B4GALT1 semapv:UnspecifiedMatching OMIM:137060 B4GALT1 skos:exactMatch ncbigene:2683 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch UMLS:C1414860 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch UMLS:C1842675 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch UMLS:C2750729 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch UMLS:C3539195 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch UMLS:C4016110 semapv:UnspecifiedMatching -OMIM:137070 FUS skos:exactMatch hgnc:FUS semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch hgnc.symbol:4010 semapv:UnspecifiedMatching +OMIM:137070 FUS skos:exactMatch hgnc.symbol:FUS semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch ncbigene:2521 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch UMLS:C1414909 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch UMLS:C4016111 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching -OMIM:137140 GABRA2 skos:exactMatch hgnc:GABRA2 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:4076 semapv:UnspecifiedMatching +OMIM:137140 GABRA2 skos:exactMatch hgnc.symbol:GABRA2 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch ncbigene:2555 semapv:UnspecifiedMatching OMIM:137141 GABRA4 skos:exactMatch UMLS:C1414911 semapv:UnspecifiedMatching -OMIM:137141 GABRA4 skos:exactMatch hgnc:GABRA4 semapv:UnspecifiedMatching +OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:4078 semapv:UnspecifiedMatching +OMIM:137141 GABRA4 skos:exactMatch hgnc.symbol:GABRA4 semapv:UnspecifiedMatching OMIM:137141 GABRA4 skos:exactMatch ncbigene:2557 semapv:UnspecifiedMatching OMIM:137142 GABRA5 skos:exactMatch UMLS:C1414912 semapv:UnspecifiedMatching OMIM:137142 GABRA5 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching -OMIM:137142 GABRA5 skos:exactMatch hgnc:GABRA5 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:4079 semapv:UnspecifiedMatching +OMIM:137142 GABRA5 skos:exactMatch hgnc.symbol:GABRA5 semapv:UnspecifiedMatching OMIM:137142 GABRA5 skos:exactMatch ncbigene:2558 semapv:UnspecifiedMatching -OMIM:137143 GABRA6 skos:exactMatch hgnc:GABRA6 semapv:UnspecifiedMatching +OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:4080 semapv:UnspecifiedMatching +OMIM:137143 GABRA6 skos:exactMatch hgnc.symbol:GABRA6 semapv:UnspecifiedMatching OMIM:137143 GABRA6 skos:exactMatch ncbigene:2559 semapv:UnspecifiedMatching -OMIM:137150 ABAT skos:exactMatch hgnc:ABAT semapv:UnspecifiedMatching +OMIM:137150 ABAT skos:exactMatch hgnc.symbol:23 semapv:UnspecifiedMatching +OMIM:137150 ABAT skos:exactMatch hgnc.symbol:ABAT semapv:UnspecifiedMatching OMIM:137150 ABAT skos:exactMatch ncbigene:18 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C1414908 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C1970160 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C2749942 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch UMLS:C4013473 semapv:UnspecifiedMatching -OMIM:137160 GABRA1 skos:exactMatch hgnc:GABRA1 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:4075 semapv:UnspecifiedMatching +OMIM:137160 GABRA1 skos:exactMatch hgnc.symbol:GABRA1 semapv:UnspecifiedMatching OMIM:137160 GABRA1 skos:exactMatch ncbigene:2554 semapv:UnspecifiedMatching -OMIM:137161 GABRR1 skos:exactMatch hgnc:GABRR1 semapv:UnspecifiedMatching +OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:4090 semapv:UnspecifiedMatching +OMIM:137161 GABRR1 skos:exactMatch hgnc.symbol:GABRR1 semapv:UnspecifiedMatching OMIM:137161 GABRR1 skos:exactMatch ncbigene:2569 semapv:UnspecifiedMatching -OMIM:137162 GABRR2 skos:exactMatch hgnc:GABRR2 semapv:UnspecifiedMatching +OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:4091 semapv:UnspecifiedMatching +OMIM:137162 GABRR2 skos:exactMatch hgnc.symbol:GABRR2 semapv:UnspecifiedMatching OMIM:137162 GABRR2 skos:exactMatch ncbigene:2570 semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch UMLS:C1414917 semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch UMLS:C2751603 semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch UMLS:C2751604 semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch UMLS:C3150399 semapv:UnspecifiedMatching -OMIM:137163 GABRD skos:exactMatch hgnc:GABRD semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch hgnc.symbol:4084 semapv:UnspecifiedMatching +OMIM:137163 GABRD skos:exactMatch hgnc.symbol:GABRD semapv:UnspecifiedMatching OMIM:137163 GABRD skos:exactMatch ncbigene:2563 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C1414920 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C1858674 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C1969810 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching -OMIM:137164 GABRG2 skos:exactMatch hgnc:GABRG2 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:4087 semapv:UnspecifiedMatching +OMIM:137164 GABRG2 skos:exactMatch hgnc.symbol:GABRG2 semapv:UnspecifiedMatching OMIM:137164 GABRG2 skos:exactMatch ncbigene:2566 semapv:UnspecifiedMatching OMIM:137165 SLC6A1 skos:exactMatch UMLS:C1420206 semapv:UnspecifiedMatching OMIM:137165 SLC6A1 skos:exactMatch UMLS:C4085238 semapv:UnspecifiedMatching -OMIM:137165 SLC6A1 skos:exactMatch hgnc:SLC6A1 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:11042 semapv:UnspecifiedMatching +OMIM:137165 SLC6A1 skos:exactMatch hgnc.symbol:SLC6A1 semapv:UnspecifiedMatching OMIM:137165 SLC6A1 skos:exactMatch ncbigene:6529 semapv:UnspecifiedMatching -OMIM:137166 GABRG1 skos:exactMatch hgnc:GABRG1 semapv:UnspecifiedMatching +OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:4086 semapv:UnspecifiedMatching +OMIM:137166 GABRG1 skos:exactMatch hgnc.symbol:GABRG1 semapv:UnspecifiedMatching OMIM:137166 GABRG1 skos:exactMatch ncbigene:2565 semapv:UnspecifiedMatching -OMIM:137167 GGCX skos:exactMatch hgnc:GGCX semapv:UnspecifiedMatching +OMIM:137167 GGCX skos:exactMatch hgnc.symbol:4247 semapv:UnspecifiedMatching +OMIM:137167 GGCX skos:exactMatch hgnc.symbol:GGCX semapv:UnspecifiedMatching OMIM:137167 GGCX skos:exactMatch ncbigene:2677 semapv:UnspecifiedMatching -OMIM:137168 GGT5 skos:exactMatch hgnc:GGT5 semapv:UnspecifiedMatching +OMIM:137168 GGT5 skos:exactMatch hgnc.symbol:4260 semapv:UnspecifiedMatching +OMIM:137168 GGT5 skos:exactMatch hgnc.symbol:GGT5 semapv:UnspecifiedMatching OMIM:137168 GGT5 skos:exactMatch ncbigene:2687 semapv:UnspecifiedMatching -OMIM:137170 GGCT skos:exactMatch hgnc:GGCT semapv:UnspecifiedMatching +OMIM:137170 GGCT skos:exactMatch hgnc.symbol:21705 semapv:UnspecifiedMatching +OMIM:137170 GGCT skos:exactMatch hgnc.symbol:GGCT semapv:UnspecifiedMatching OMIM:137170 GGCT skos:exactMatch ncbigene:79017 semapv:UnspecifiedMatching -OMIM:137181 GGT2 skos:exactMatch hgnc:GGT2P semapv:UnspecifiedMatching +OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:4251 semapv:UnspecifiedMatching +OMIM:137181 GGT2 skos:exactMatch hgnc.symbol:GGT2P semapv:UnspecifiedMatching OMIM:137181 GGT2 skos:exactMatch ncbigene:728441 semapv:UnspecifiedMatching OMIM:137190 GABRB1 skos:exactMatch UMLS:C1414914 semapv:UnspecifiedMatching OMIM:137190 GABRB1 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching -OMIM:137190 GABRB1 skos:exactMatch hgnc:GABRB1 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:4081 semapv:UnspecifiedMatching +OMIM:137190 GABRB1 skos:exactMatch hgnc.symbol:GABRB1 semapv:UnspecifiedMatching OMIM:137190 GABRB1 skos:exactMatch ncbigene:2560 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch UMLS:C1414916 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch UMLS:C2677087 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching -OMIM:137192 GABRB3 skos:exactMatch hgnc:GABRB3 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:4083 semapv:UnspecifiedMatching +OMIM:137192 GABRB3 skos:exactMatch hgnc.symbol:GABRB3 semapv:UnspecifiedMatching OMIM:137192 GABRB3 skos:exactMatch ncbigene:2562 semapv:UnspecifiedMatching +OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch Orphanet:324442 semapv:UnspecifiedMatching OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch UMLS:C0242287 semapv:UnspecifiedMatching -OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive skos:exactMatch orphanet.ordo:324442 semapv:UnspecifiedMatching OMIM:137207 LRRC32 skos:exactMatch UMLS:C1537607 semapv:UnspecifiedMatching OMIM:137207 LRRC32 skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching -OMIM:137207 LRRC32 skos:exactMatch hgnc:LRRC32 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:4161 semapv:UnspecifiedMatching +OMIM:137207 LRRC32 skos:exactMatch hgnc.symbol:LRRC32 semapv:UnspecifiedMatching OMIM:137207 LRRC32 skos:exactMatch ncbigene:2615 semapv:UnspecifiedMatching -OMIM:137216 ATP4A skos:exactMatch hgnc:ATP4A semapv:UnspecifiedMatching +OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:819 semapv:UnspecifiedMatching +OMIM:137216 ATP4A skos:exactMatch hgnc.symbol:ATP4A semapv:UnspecifiedMatching OMIM:137216 ATP4A skos:exactMatch ncbigene:495 semapv:UnspecifiedMatching -OMIM:137217 ATP4B skos:exactMatch hgnc:ATP4B semapv:UnspecifiedMatching +OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:820 semapv:UnspecifiedMatching +OMIM:137217 ATP4B skos:exactMatch hgnc.symbol:ATP4B semapv:UnspecifiedMatching OMIM:137217 ATP4B skos:exactMatch ncbigene:496 semapv:UnspecifiedMatching -OMIM:137240 GIP skos:exactMatch hgnc:GIP semapv:UnspecifiedMatching +OMIM:137240 GIP skos:exactMatch hgnc.symbol:4270 semapv:UnspecifiedMatching +OMIM:137240 GIP skos:exactMatch hgnc.symbol:GIP semapv:UnspecifiedMatching OMIM:137240 GIP skos:exactMatch ncbigene:2695 semapv:UnspecifiedMatching OMIM:137241 GIPR skos:exactMatch UMLS:C1333675 semapv:UnspecifiedMatching -OMIM:137241 GIPR skos:exactMatch hgnc:GIPR semapv:UnspecifiedMatching +OMIM:137241 GIPR skos:exactMatch hgnc.symbol:4271 semapv:UnspecifiedMatching +OMIM:137241 GIPR skos:exactMatch hgnc.symbol:GIPR semapv:UnspecifiedMatching OMIM:137241 GIPR skos:exactMatch ncbigene:2696 semapv:UnspecifiedMatching -OMIM:137250 GAST skos:exactMatch hgnc:GAST semapv:UnspecifiedMatching +OMIM:137250 GAST skos:exactMatch hgnc.symbol:4164 semapv:UnspecifiedMatching +OMIM:137250 GAST skos:exactMatch hgnc.symbol:GAST semapv:UnspecifiedMatching OMIM:137250 GAST skos:exactMatch ncbigene:2520 semapv:UnspecifiedMatching -OMIM:137260 GRP skos:exactMatch hgnc:GRP semapv:UnspecifiedMatching +OMIM:137260 GRP skos:exactMatch hgnc.symbol:4605 semapv:UnspecifiedMatching +OMIM:137260 GRP skos:exactMatch hgnc.symbol:GRP semapv:UnspecifiedMatching OMIM:137260 GRP skos:exactMatch ncbigene:2922 semapv:UnspecifiedMatching +OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch Orphanet:2494 semapv:UnspecifiedMatching OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C0017155 semapv:UnspecifiedMatching OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch UMLS:C2936660 semapv:UnspecifiedMatching -OMIM:137280 gastritis, familial giant hypertrophic skos:exactMatch orphanet.ordo:2494 semapv:UnspecifiedMatching -OMIM:137290 TACSTD2 skos:exactMatch hgnc:TACSTD2 semapv:UnspecifiedMatching +OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:11530 semapv:UnspecifiedMatching +OMIM:137290 TACSTD2 skos:exactMatch hgnc.symbol:TACSTD2 semapv:UnspecifiedMatching OMIM:137290 TACSTD2 skos:exactMatch ncbigene:4070 semapv:UnspecifiedMatching -OMIM:137295 GATA2 skos:exactMatch hgnc:GATA2 semapv:UnspecifiedMatching +OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:4171 semapv:UnspecifiedMatching +OMIM:137295 GATA2 skos:exactMatch hgnc.symbol:GATA2 semapv:UnspecifiedMatching OMIM:137295 GATA2 skos:exactMatch ncbigene:2624 semapv:UnspecifiedMatching -OMIM:137350 GSN skos:exactMatch hgnc:GSN semapv:UnspecifiedMatching +OMIM:137350 GSN skos:exactMatch hgnc.symbol:4620 semapv:UnspecifiedMatching +OMIM:137350 GSN skos:exactMatch hgnc.symbol:GSN semapv:UnspecifiedMatching OMIM:137350 GSN skos:exactMatch ncbigene:2934 semapv:UnspecifiedMatching +OMIM:137440 gerstmann-straussler disease skos:exactMatch Orphanet:356 semapv:UnspecifiedMatching OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching OMIM:137440 gerstmann-straussler disease skos:exactMatch UMLS:C2931022 semapv:UnspecifiedMatching -OMIM:137440 gerstmann-straussler disease skos:exactMatch orphanet.ordo:356 semapv:UnspecifiedMatching OMIM:137570 SLC20A1 skos:exactMatch UMLS:C1456395 semapv:UnspecifiedMatching -OMIM:137570 SLC20A1 skos:exactMatch hgnc:SLC20A1 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:10946 semapv:UnspecifiedMatching +OMIM:137570 SLC20A1 skos:exactMatch hgnc.symbol:SLC20A1 semapv:UnspecifiedMatching OMIM:137570 SLC20A1 skos:exactMatch ncbigene:6574 semapv:UnspecifiedMatching OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C0339573 semapv:UnspecifiedMatching OMIM:137760 glaucoma, primary open angle skos:exactMatch UMLS:C1842026 semapv:UnspecifiedMatching -OMIM:137780 GFAP skos:exactMatch hgnc:GFAP semapv:UnspecifiedMatching +OMIM:137780 GFAP skos:exactMatch hgnc.symbol:4235 semapv:UnspecifiedMatching +OMIM:137780 GFAP skos:exactMatch hgnc.symbol:GFAP semapv:UnspecifiedMatching OMIM:137780 GFAP skos:exactMatch ncbigene:2670 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:182067 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251627 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:251630 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:301 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:360 semapv:UnspecifiedMatching +OMIM:137800 glioma susceptibility 1 skos:exactMatch Orphanet:94 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1621958 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C1842010 semapv:UnspecifiedMatching OMIM:137800 glioma susceptibility 1 skos:exactMatch UMLS:C2750850 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch orphanet.ordo:182067 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch orphanet.ordo:251627 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch orphanet.ordo:251630 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch orphanet.ordo:301 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch orphanet.ordo:360 semapv:UnspecifiedMatching -OMIM:137800 glioma susceptibility 1 skos:exactMatch orphanet.ordo:94 semapv:UnspecifiedMatching +OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 semapv:UnspecifiedMatching OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C1841989 semapv:UnspecifiedMatching OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching -OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch orphanet.ordo:69735 semapv:UnspecifiedMatching -OMIM:137960 MPV17 skos:exactMatch hgnc:MPV17 semapv:UnspecifiedMatching +OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:7224 semapv:UnspecifiedMatching +OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:MPV17 semapv:UnspecifiedMatching OMIM:137960 MPV17 skos:exactMatch ncbigene:4358 semapv:UnspecifiedMatching OMIM:138030 GCG skos:exactMatch UMLS:C1333664 semapv:UnspecifiedMatching -OMIM:138030 GCG skos:exactMatch hgnc:GCG semapv:UnspecifiedMatching +OMIM:138030 GCG skos:exactMatch hgnc.symbol:4191 semapv:UnspecifiedMatching +OMIM:138030 GCG skos:exactMatch hgnc.symbol:GCG semapv:UnspecifiedMatching OMIM:138030 GCG skos:exactMatch ncbigene:2641 semapv:UnspecifiedMatching -OMIM:138032 GLP1R skos:exactMatch hgnc:GLP1R semapv:UnspecifiedMatching +OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:4324 semapv:UnspecifiedMatching +OMIM:138032 GLP1R skos:exactMatch hgnc.symbol:GLP1R semapv:UnspecifiedMatching OMIM:138032 GLP1R skos:exactMatch ncbigene:2740 semapv:UnspecifiedMatching OMIM:138033 GCGR skos:exactMatch UMLS:C1415011 semapv:UnspecifiedMatching OMIM:138033 GCGR skos:exactMatch UMLS:C5394558 semapv:UnspecifiedMatching -OMIM:138033 GCGR skos:exactMatch hgnc:GCGR semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch hgnc.symbol:4192 semapv:UnspecifiedMatching +OMIM:138033 GCGR skos:exactMatch hgnc.symbol:GCGR semapv:UnspecifiedMatching OMIM:138033 GCGR skos:exactMatch ncbigene:2642 semapv:UnspecifiedMatching -OMIM:138040 NR3C1 skos:exactMatch hgnc:NR3C1 semapv:UnspecifiedMatching +OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:7978 semapv:UnspecifiedMatching +OMIM:138040 NR3C1 skos:exactMatch hgnc.symbol:NR3C1 semapv:UnspecifiedMatching OMIM:138040 NR3C1 skos:exactMatch ncbigene:2908 semapv:UnspecifiedMatching -OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc:NR3C1P1 semapv:UnspecifiedMatching +OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:4592 semapv:UnspecifiedMatching +OMIM:138060 glucocorticoid receptor-like 1 skos:exactMatch hgnc.symbol:NR3C1P1 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C0342277 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C1415014 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C1865290 semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching -OMIM:138079 GCK skos:exactMatch hgnc:GCK semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch hgnc.symbol:4195 semapv:UnspecifiedMatching +OMIM:138079 GCK skos:exactMatch hgnc.symbol:GCK semapv:UnspecifiedMatching OMIM:138079 GCK skos:exactMatch ncbigene:2645 semapv:UnspecifiedMatching -OMIM:138090 H6PD skos:exactMatch hgnc:H6PD semapv:UnspecifiedMatching +OMIM:138090 H6PD skos:exactMatch hgnc.symbol:4795 semapv:UnspecifiedMatching +OMIM:138090 H6PD skos:exactMatch hgnc.symbol:H6PD semapv:UnspecifiedMatching OMIM:138090 H6PD skos:exactMatch ncbigene:9563 semapv:UnspecifiedMatching -OMIM:138120 HSPA5 skos:exactMatch hgnc:HSPA5 semapv:UnspecifiedMatching +OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:5238 semapv:UnspecifiedMatching +OMIM:138120 HSPA5 skos:exactMatch hgnc.symbol:HSPA5 semapv:UnspecifiedMatching OMIM:138120 HSPA5 skos:exactMatch ncbigene:3309 semapv:UnspecifiedMatching -OMIM:138130 GLUD1 skos:exactMatch hgnc:GLUD1 semapv:UnspecifiedMatching +OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:4335 semapv:UnspecifiedMatching +OMIM:138130 GLUD1 skos:exactMatch hgnc.symbol:GLUD1 semapv:UnspecifiedMatching OMIM:138130 GLUD1 skos:exactMatch ncbigene:2746 semapv:UnspecifiedMatching -OMIM:138140 SLC2A1 skos:exactMatch hgnc:SLC2A1 semapv:UnspecifiedMatching +OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:11005 semapv:UnspecifiedMatching +OMIM:138140 SLC2A1 skos:exactMatch hgnc.symbol:SLC2A1 semapv:UnspecifiedMatching OMIM:138140 SLC2A1 skos:exactMatch ncbigene:6513 semapv:UnspecifiedMatching OMIM:138150 GOT2 skos:exactMatch UMLS:C1415182 semapv:UnspecifiedMatching OMIM:138150 GOT2 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching -OMIM:138150 GOT2 skos:exactMatch hgnc:GOT2 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:4433 semapv:UnspecifiedMatching +OMIM:138150 GOT2 skos:exactMatch hgnc.symbol:GOT2 semapv:UnspecifiedMatching OMIM:138150 GOT2 skos:exactMatch ncbigene:2806 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch UMLS:C1420172 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3495427 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:138160 SLC2A2 skos:exactMatch hgnc:SLC2A2 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:11006 semapv:UnspecifiedMatching +OMIM:138160 SLC2A2 skos:exactMatch hgnc.symbol:SLC2A2 semapv:UnspecifiedMatching OMIM:138160 SLC2A2 skos:exactMatch ncbigene:6514 semapv:UnspecifiedMatching -OMIM:138170 SLC2A3 skos:exactMatch hgnc:SLC2A3 semapv:UnspecifiedMatching +OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:11007 semapv:UnspecifiedMatching +OMIM:138170 SLC2A3 skos:exactMatch hgnc.symbol:SLC2A3 semapv:UnspecifiedMatching OMIM:138170 SLC2A3 skos:exactMatch ncbigene:6515 semapv:UnspecifiedMatching -OMIM:138180 GOT1 skos:exactMatch hgnc:GOT1 semapv:UnspecifiedMatching +OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:4432 semapv:UnspecifiedMatching +OMIM:138180 GOT1 skos:exactMatch hgnc.symbol:GOT1 semapv:UnspecifiedMatching OMIM:138180 GOT1 skos:exactMatch ncbigene:2805 semapv:UnspecifiedMatching -OMIM:138190 SLC2A4 skos:exactMatch hgnc:SLC2A4 semapv:UnspecifiedMatching +OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:11009 semapv:UnspecifiedMatching +OMIM:138190 SLC2A4 skos:exactMatch hgnc.symbol:SLC2A4 semapv:UnspecifiedMatching OMIM:138190 SLC2A4 skos:exactMatch ncbigene:6517 semapv:UnspecifiedMatching -OMIM:138200 GPT skos:exactMatch hgnc:GPT semapv:UnspecifiedMatching +OMIM:138200 GPT skos:exactMatch hgnc.symbol:4552 semapv:UnspecifiedMatching +OMIM:138200 GPT skos:exactMatch hgnc.symbol:GPT semapv:UnspecifiedMatching OMIM:138200 GPT skos:exactMatch ncbigene:2875 semapv:UnspecifiedMatching OMIM:138210 GPT2 skos:exactMatch UMLS:C1512213 semapv:UnspecifiedMatching OMIM:138210 GPT2 skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching -OMIM:138210 GPT2 skos:exactMatch hgnc:GPT2 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:18062 semapv:UnspecifiedMatching +OMIM:138210 GPT2 skos:exactMatch hgnc.symbol:GPT2 semapv:UnspecifiedMatching OMIM:138210 GPT2 skos:exactMatch ncbigene:84706 semapv:UnspecifiedMatching -OMIM:138230 SLC2A5 skos:exactMatch hgnc:SLC2A5 semapv:UnspecifiedMatching +OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:11010 semapv:UnspecifiedMatching +OMIM:138230 SLC2A5 skos:exactMatch hgnc.symbol:SLC2A5 semapv:UnspecifiedMatching OMIM:138230 SLC2A5 skos:exactMatch ncbigene:6518 semapv:UnspecifiedMatching -OMIM:138243 GRIK3 skos:exactMatch hgnc:GRIK3 semapv:UnspecifiedMatching +OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:4581 semapv:UnspecifiedMatching +OMIM:138243 GRIK3 skos:exactMatch hgnc.symbol:GRIK3 semapv:UnspecifiedMatching OMIM:138243 GRIK3 skos:exactMatch ncbigene:2899 semapv:UnspecifiedMatching OMIM:138244 GRIK2 skos:exactMatch UMLS:C1415294 semapv:UnspecifiedMatching OMIM:138244 GRIK2 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching -OMIM:138244 GRIK2 skos:exactMatch hgnc:GRIK2 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:4580 semapv:UnspecifiedMatching +OMIM:138244 GRIK2 skos:exactMatch hgnc.symbol:GRIK2 semapv:UnspecifiedMatching OMIM:138244 GRIK2 skos:exactMatch ncbigene:2898 semapv:UnspecifiedMatching -OMIM:138245 GRIK1 skos:exactMatch hgnc:GRIK1 semapv:UnspecifiedMatching +OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:4579 semapv:UnspecifiedMatching +OMIM:138245 GRIK1 skos:exactMatch hgnc.symbol:GRIK1 semapv:UnspecifiedMatching OMIM:138245 GRIK1 skos:exactMatch ncbigene:2897 semapv:UnspecifiedMatching -OMIM:138246 GRIA4 skos:exactMatch hgnc:GRIA4 semapv:UnspecifiedMatching +OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:4574 semapv:UnspecifiedMatching +OMIM:138246 GRIA4 skos:exactMatch hgnc.symbol:GRIA4 semapv:UnspecifiedMatching OMIM:138246 GRIA4 skos:exactMatch ncbigene:2893 semapv:UnspecifiedMatching OMIM:138247 GRIA2 skos:exactMatch UMLS:C1415288 semapv:UnspecifiedMatching OMIM:138247 GRIA2 skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching -OMIM:138247 GRIA2 skos:exactMatch hgnc:GRIA2 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:4572 semapv:UnspecifiedMatching +OMIM:138247 GRIA2 skos:exactMatch hgnc.symbol:GRIA2 semapv:UnspecifiedMatching OMIM:138247 GRIA2 skos:exactMatch ncbigene:2891 semapv:UnspecifiedMatching -OMIM:138248 GRIA1 skos:exactMatch hgnc:GRIA1 semapv:UnspecifiedMatching +OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:4571 semapv:UnspecifiedMatching +OMIM:138248 GRIA1 skos:exactMatch hgnc.symbol:GRIA1 semapv:UnspecifiedMatching OMIM:138248 GRIA1 skos:exactMatch ncbigene:2890 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C1415298 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693959 semapv:UnspecifiedMatching @@ -2379,116 +3160,164 @@ OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693962 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693963 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693964 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch UMLS:C4693965 semapv:UnspecifiedMatching -OMIM:138249 GRIN1 skos:exactMatch hgnc:GRIN1 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:4584 semapv:UnspecifiedMatching +OMIM:138249 GRIN1 skos:exactMatch hgnc.symbol:GRIN1 semapv:UnspecifiedMatching OMIM:138249 GRIN1 skos:exactMatch ncbigene:2902 semapv:UnspecifiedMatching -OMIM:138250 ALDH18A1 skos:exactMatch hgnc:ALDH18A1 semapv:UnspecifiedMatching +OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:9722 semapv:UnspecifiedMatching +OMIM:138250 ALDH18A1 skos:exactMatch hgnc.symbol:ALDH18A1 semapv:UnspecifiedMatching OMIM:138250 ALDH18A1 skos:exactMatch ncbigene:5832 semapv:UnspecifiedMatching -OMIM:138251 GRINA skos:exactMatch hgnc:GRINA semapv:UnspecifiedMatching +OMIM:138251 GRINA skos:exactMatch hgnc.symbol:4589 semapv:UnspecifiedMatching +OMIM:138251 GRINA skos:exactMatch hgnc.symbol:GRINA semapv:UnspecifiedMatching OMIM:138251 GRINA skos:exactMatch ncbigene:2907 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C1415300 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch UMLS:C4540533 semapv:UnspecifiedMatching -OMIM:138252 GRIN2B skos:exactMatch hgnc:GRIN2B semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:4586 semapv:UnspecifiedMatching +OMIM:138252 GRIN2B skos:exactMatch hgnc.symbol:GRIN2B semapv:UnspecifiedMatching OMIM:138252 GRIN2B skos:exactMatch ncbigene:2904 semapv:UnspecifiedMatching -OMIM:138253 GRIN2A skos:exactMatch hgnc:GRIN2A semapv:UnspecifiedMatching +OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:4585 semapv:UnspecifiedMatching +OMIM:138253 GRIN2A skos:exactMatch hgnc.symbol:GRIN2A semapv:UnspecifiedMatching OMIM:138253 GRIN2A skos:exactMatch ncbigene:2903 semapv:UnspecifiedMatching -OMIM:138254 GRIN2C skos:exactMatch hgnc:GRIN2C semapv:UnspecifiedMatching +OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:4587 semapv:UnspecifiedMatching +OMIM:138254 GRIN2C skos:exactMatch hgnc.symbol:GRIN2C semapv:UnspecifiedMatching OMIM:138254 GRIN2C skos:exactMatch ncbigene:2905 semapv:UnspecifiedMatching OMIM:138275 GAD2 skos:exactMatch UMLS:C1414926 semapv:UnspecifiedMatching -OMIM:138275 GAD2 skos:exactMatch hgnc:GAD2 semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:4093 semapv:UnspecifiedMatching +OMIM:138275 GAD2 skos:exactMatch hgnc.symbol:GAD2 semapv:UnspecifiedMatching OMIM:138275 GAD2 skos:exactMatch ncbigene:2572 semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch UMLS:C1415112 semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch UMLS:C5193080 semapv:UnspecifiedMatching -OMIM:138280 GLS skos:exactMatch hgnc:GLS semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch hgnc.symbol:4331 semapv:UnspecifiedMatching +OMIM:138280 GLS skos:exactMatch hgnc.symbol:GLS semapv:UnspecifiedMatching OMIM:138280 GLS skos:exactMatch ncbigene:2744 semapv:UnspecifiedMatching -OMIM:138290 GLUL skos:exactMatch hgnc:GLUL semapv:UnspecifiedMatching +OMIM:138290 GLUL skos:exactMatch hgnc.symbol:4341 semapv:UnspecifiedMatching +OMIM:138290 GLUL skos:exactMatch hgnc.symbol:GLUL semapv:UnspecifiedMatching OMIM:138290 GLUL skos:exactMatch ncbigene:2752 semapv:UnspecifiedMatching -OMIM:138292 GFPT1 skos:exactMatch hgnc:GFPT1 semapv:UnspecifiedMatching +OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:4241 semapv:UnspecifiedMatching +OMIM:138292 GFPT1 skos:exactMatch hgnc.symbol:GFPT1 semapv:UnspecifiedMatching OMIM:138292 GFPT1 skos:exactMatch ncbigene:2673 semapv:UnspecifiedMatching -OMIM:138295 EPRS1 skos:exactMatch hgnc:EPRS1 semapv:UnspecifiedMatching +OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:3418 semapv:UnspecifiedMatching +OMIM:138295 EPRS1 skos:exactMatch hgnc.symbol:EPRS1 semapv:UnspecifiedMatching OMIM:138295 EPRS1 skos:exactMatch ncbigene:2058 semapv:UnspecifiedMatching -OMIM:138297 ENPEP skos:exactMatch hgnc:ENPEP semapv:UnspecifiedMatching +OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:3355 semapv:UnspecifiedMatching +OMIM:138297 ENPEP skos:exactMatch hgnc.symbol:ENPEP semapv:UnspecifiedMatching OMIM:138297 ENPEP skos:exactMatch ncbigene:2028 semapv:UnspecifiedMatching -OMIM:138300 GSR skos:exactMatch hgnc:GSR semapv:UnspecifiedMatching +OMIM:138300 GSR skos:exactMatch hgnc.symbol:4623 semapv:UnspecifiedMatching +OMIM:138300 GSR skos:exactMatch hgnc.symbol:GSR semapv:UnspecifiedMatching OMIM:138300 GSR skos:exactMatch ncbigene:2936 semapv:UnspecifiedMatching -OMIM:138319 GPX2 skos:exactMatch hgnc:GPX2 semapv:UnspecifiedMatching +OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:4554 semapv:UnspecifiedMatching +OMIM:138319 GPX2 skos:exactMatch hgnc.symbol:GPX2 semapv:UnspecifiedMatching OMIM:138319 GPX2 skos:exactMatch ncbigene:2877 semapv:UnspecifiedMatching -OMIM:138320 GPX1 skos:exactMatch hgnc:GPX1 semapv:UnspecifiedMatching +OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:4553 semapv:UnspecifiedMatching +OMIM:138320 GPX1 skos:exactMatch hgnc.symbol:GPX1 semapv:UnspecifiedMatching OMIM:138320 GPX1 skos:exactMatch ncbigene:2876 semapv:UnspecifiedMatching -OMIM:138321 GPX3 skos:exactMatch hgnc:GPX3 semapv:UnspecifiedMatching +OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:4555 semapv:UnspecifiedMatching +OMIM:138321 GPX3 skos:exactMatch hgnc.symbol:GPX3 semapv:UnspecifiedMatching OMIM:138321 GPX3 skos:exactMatch ncbigene:2878 semapv:UnspecifiedMatching -OMIM:138322 GPX4 skos:exactMatch hgnc:GPX4 semapv:UnspecifiedMatching +OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:4556 semapv:UnspecifiedMatching +OMIM:138322 GPX4 skos:exactMatch hgnc.symbol:GPX4 semapv:UnspecifiedMatching OMIM:138322 GPX4 skos:exactMatch ncbigene:2879 semapv:UnspecifiedMatching -OMIM:138330 MGST1 skos:exactMatch hgnc:MGST1 semapv:UnspecifiedMatching +OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:7061 semapv:UnspecifiedMatching +OMIM:138330 MGST1 skos:exactMatch hgnc.symbol:MGST1 semapv:UnspecifiedMatching OMIM:138330 MGST1 skos:exactMatch ncbigene:4257 semapv:UnspecifiedMatching -OMIM:138333 GSTM4 skos:exactMatch hgnc:GSTM4 semapv:UnspecifiedMatching +OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:4636 semapv:UnspecifiedMatching +OMIM:138333 GSTM4 skos:exactMatch hgnc.symbol:GSTM4 semapv:UnspecifiedMatching OMIM:138333 GSTM4 skos:exactMatch ncbigene:2948 semapv:UnspecifiedMatching -OMIM:138350 GSTM1 skos:exactMatch hgnc:GSTM1 semapv:UnspecifiedMatching +OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:4632 semapv:UnspecifiedMatching +OMIM:138350 GSTM1 skos:exactMatch hgnc.symbol:GSTM1 semapv:UnspecifiedMatching OMIM:138350 GSTM1 skos:exactMatch ncbigene:2944 semapv:UnspecifiedMatching -OMIM:138359 GSTA1 skos:exactMatch hgnc:GSTA1 semapv:UnspecifiedMatching +OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:4626 semapv:UnspecifiedMatching +OMIM:138359 GSTA1 skos:exactMatch hgnc.symbol:GSTA1 semapv:UnspecifiedMatching OMIM:138359 GSTA1 skos:exactMatch ncbigene:2938 semapv:UnspecifiedMatching -OMIM:138360 GSTA2 skos:exactMatch hgnc:GSTA2 semapv:UnspecifiedMatching +OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:4627 semapv:UnspecifiedMatching +OMIM:138360 GSTA2 skos:exactMatch hgnc.symbol:GSTA2 semapv:UnspecifiedMatching OMIM:138360 GSTA2 skos:exactMatch ncbigene:2939 semapv:UnspecifiedMatching -OMIM:138380 GSTM2 skos:exactMatch hgnc:GSTM2 semapv:UnspecifiedMatching +OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:4634 semapv:UnspecifiedMatching +OMIM:138380 GSTM2 skos:exactMatch hgnc.symbol:GSTM2 semapv:UnspecifiedMatching OMIM:138380 GSTM2 skos:exactMatch ncbigene:2946 semapv:UnspecifiedMatching -OMIM:138385 GSTM5 skos:exactMatch hgnc:GSTM5 semapv:UnspecifiedMatching +OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:4637 semapv:UnspecifiedMatching +OMIM:138385 GSTM5 skos:exactMatch hgnc.symbol:GSTM5 semapv:UnspecifiedMatching OMIM:138385 GSTM5 skos:exactMatch ncbigene:2949 semapv:UnspecifiedMatching -OMIM:138390 GSTM3 skos:exactMatch hgnc:GSTM3 semapv:UnspecifiedMatching +OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:4635 semapv:UnspecifiedMatching +OMIM:138390 GSTM3 skos:exactMatch hgnc.symbol:GSTM3 semapv:UnspecifiedMatching OMIM:138390 GSTM3 skos:exactMatch ncbigene:2947 semapv:UnspecifiedMatching -OMIM:138400 GAPDH skos:exactMatch hgnc:GAPDH semapv:UnspecifiedMatching +OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:4141 semapv:UnspecifiedMatching +OMIM:138400 GAPDH skos:exactMatch hgnc.symbol:GAPDH semapv:UnspecifiedMatching OMIM:138400 GAPDH skos:exactMatch ncbigene:2597 semapv:UnspecifiedMatching -OMIM:138420 GPD1 skos:exactMatch hgnc:GPD1 semapv:UnspecifiedMatching +OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:4455 semapv:UnspecifiedMatching +OMIM:138420 GPD1 skos:exactMatch hgnc.symbol:GPD1 semapv:UnspecifiedMatching OMIM:138420 GPD1 skos:exactMatch ncbigene:2819 semapv:UnspecifiedMatching -OMIM:138430 GPD2 skos:exactMatch hgnc:GPD2 semapv:UnspecifiedMatching +OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:4456 semapv:UnspecifiedMatching +OMIM:138430 GPD2 skos:exactMatch hgnc.symbol:GPD2 semapv:UnspecifiedMatching OMIM:138430 GPD2 skos:exactMatch ncbigene:2820 semapv:UnspecifiedMatching -OMIM:138440 GART skos:exactMatch hgnc:GART semapv:UnspecifiedMatching +OMIM:138440 GART skos:exactMatch hgnc.symbol:4163 semapv:UnspecifiedMatching +OMIM:138440 GART skos:exactMatch hgnc.symbol:GART semapv:UnspecifiedMatching OMIM:138440 GART skos:exactMatch ncbigene:2618 semapv:UnspecifiedMatching OMIM:138450 SHMT2 skos:exactMatch UMLS:C1420040 semapv:UnspecifiedMatching OMIM:138450 SHMT2 skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching -OMIM:138450 SHMT2 skos:exactMatch hgnc:SHMT2 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:10852 semapv:UnspecifiedMatching +OMIM:138450 SHMT2 skos:exactMatch hgnc.symbol:SHMT2 semapv:UnspecifiedMatching OMIM:138450 SHMT2 skos:exactMatch ncbigene:6472 semapv:UnspecifiedMatching -OMIM:138470 CFB skos:exactMatch hgnc:CFB semapv:UnspecifiedMatching +OMIM:138470 CFB skos:exactMatch hgnc.symbol:1037 semapv:UnspecifiedMatching +OMIM:138470 CFB skos:exactMatch hgnc.symbol:CFB semapv:UnspecifiedMatching OMIM:138470 CFB skos:exactMatch ncbigene:629 semapv:UnspecifiedMatching OMIM:138480 SLC25A32 skos:exactMatch UMLS:C1822742 semapv:UnspecifiedMatching OMIM:138480 SLC25A32 skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching -OMIM:138480 SLC25A32 skos:exactMatch hgnc:SLC25A32 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:29683 semapv:UnspecifiedMatching +OMIM:138480 SLC25A32 skos:exactMatch hgnc.symbol:SLC25A32 semapv:UnspecifiedMatching OMIM:138480 SLC25A32 skos:exactMatch ncbigene:81034 semapv:UnspecifiedMatching -OMIM:138491 GLRA1 skos:exactMatch hgnc:GLRA1 semapv:UnspecifiedMatching +OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:4326 semapv:UnspecifiedMatching +OMIM:138491 GLRA1 skos:exactMatch hgnc.symbol:GLRA1 semapv:UnspecifiedMatching OMIM:138491 GLRA1 skos:exactMatch ncbigene:2741 semapv:UnspecifiedMatching -OMIM:138492 GLRB skos:exactMatch hgnc:GLRB semapv:UnspecifiedMatching +OMIM:138492 GLRB skos:exactMatch hgnc.symbol:4329 semapv:UnspecifiedMatching +OMIM:138492 GLRB skos:exactMatch hgnc.symbol:GLRB semapv:UnspecifiedMatching OMIM:138492 GLRB skos:exactMatch ncbigene:2743 semapv:UnspecifiedMatching -OMIM:138550 PYGB skos:exactMatch hgnc:PYGB semapv:UnspecifiedMatching +OMIM:138550 PYGB skos:exactMatch hgnc.symbol:9723 semapv:UnspecifiedMatching +OMIM:138550 PYGB skos:exactMatch hgnc.symbol:PYGB semapv:UnspecifiedMatching OMIM:138550 PYGB skos:exactMatch ncbigene:5834 semapv:UnspecifiedMatching -OMIM:138570 GYS1 skos:exactMatch hgnc:GYS1 semapv:UnspecifiedMatching +OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:4706 semapv:UnspecifiedMatching +OMIM:138570 GYS1 skos:exactMatch hgnc.symbol:GYS1 semapv:UnspecifiedMatching OMIM:138570 GYS1 skos:exactMatch ncbigene:2997 semapv:UnspecifiedMatching -OMIM:138571 GYS2 skos:exactMatch hgnc:GYS2 semapv:UnspecifiedMatching +OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:4707 semapv:UnspecifiedMatching +OMIM:138571 GYS2 skos:exactMatch hgnc.symbol:GYS2 semapv:UnspecifiedMatching OMIM:138571 GYS2 skos:exactMatch ncbigene:2998 semapv:UnspecifiedMatching -OMIM:138590 GYPE skos:exactMatch hgnc:GYPE semapv:UnspecifiedMatching +OMIM:138590 GYPE skos:exactMatch hgnc.symbol:4705 semapv:UnspecifiedMatching +OMIM:138590 GYPE skos:exactMatch hgnc.symbol:GYPE semapv:UnspecifiedMatching OMIM:138590 GYPE skos:exactMatch ncbigene:2996 semapv:UnspecifiedMatching -OMIM:138600 ORM1 skos:exactMatch hgnc:ORM1 semapv:UnspecifiedMatching +OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:8498 semapv:UnspecifiedMatching +OMIM:138600 ORM1 skos:exactMatch hgnc.symbol:ORM1 semapv:UnspecifiedMatching OMIM:138600 ORM1 skos:exactMatch ncbigene:5004 semapv:UnspecifiedMatching -OMIM:138610 ORM2 skos:exactMatch hgnc:ORM2 semapv:UnspecifiedMatching +OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:8499 semapv:UnspecifiedMatching +OMIM:138610 ORM2 skos:exactMatch hgnc.symbol:ORM2 semapv:UnspecifiedMatching OMIM:138610 ORM2 skos:exactMatch ncbigene:5005 semapv:UnspecifiedMatching -OMIM:138670 A1BG skos:exactMatch hgnc:A1BG semapv:UnspecifiedMatching +OMIM:138670 A1BG skos:exactMatch hgnc.symbol:5 semapv:UnspecifiedMatching +OMIM:138670 A1BG skos:exactMatch hgnc.symbol:A1BG semapv:UnspecifiedMatching OMIM:138670 A1BG skos:exactMatch ncbigene:1 semapv:UnspecifiedMatching -OMIM:138680 AHSG skos:exactMatch hgnc:AHSG semapv:UnspecifiedMatching +OMIM:138680 AHSG skos:exactMatch hgnc.symbol:349 semapv:UnspecifiedMatching +OMIM:138680 AHSG skos:exactMatch hgnc.symbol:AHSG semapv:UnspecifiedMatching OMIM:138680 AHSG skos:exactMatch ncbigene:197 semapv:UnspecifiedMatching -OMIM:138700 APOH skos:exactMatch hgnc:APOH semapv:UnspecifiedMatching +OMIM:138700 APOH skos:exactMatch hgnc.symbol:616 semapv:UnspecifiedMatching +OMIM:138700 APOH skos:exactMatch hgnc.symbol:APOH semapv:UnspecifiedMatching OMIM:138700 APOH skos:exactMatch ncbigene:350 semapv:UnspecifiedMatching -OMIM:138720 GP1BB skos:exactMatch hgnc:GP1BB semapv:UnspecifiedMatching +OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:4440 semapv:UnspecifiedMatching +OMIM:138720 GP1BB skos:exactMatch hgnc.symbol:GP1BB semapv:UnspecifiedMatching OMIM:138720 GP1BB skos:exactMatch ncbigene:2812 semapv:UnspecifiedMatching -OMIM:138750 GLO1 skos:exactMatch hgnc:GLO1 semapv:UnspecifiedMatching +OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:4323 semapv:UnspecifiedMatching +OMIM:138750 GLO1 skos:exactMatch hgnc.symbol:GLO1 semapv:UnspecifiedMatching OMIM:138750 GLO1 skos:exactMatch ncbigene:2739 semapv:UnspecifiedMatching -OMIM:138760 HAGH skos:exactMatch hgnc:HAGH semapv:UnspecifiedMatching +OMIM:138760 HAGH skos:exactMatch hgnc.symbol:4805 semapv:UnspecifiedMatching +OMIM:138760 HAGH skos:exactMatch hgnc.symbol:HAGH semapv:UnspecifiedMatching OMIM:138760 HAGH skos:exactMatch ncbigene:3029 semapv:UnspecifiedMatching +OMIM:138770 gms syndrome skos:exactMatch Orphanet:2090 semapv:UnspecifiedMatching OMIM:138770 gms syndrome skos:exactMatch UMLS:C1841854 semapv:UnspecifiedMatching -OMIM:138770 gms syndrome skos:exactMatch orphanet.ordo:2090 semapv:UnspecifiedMatching -OMIM:138850 GNRHR skos:exactMatch hgnc:GNRHR semapv:UnspecifiedMatching +OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:4421 semapv:UnspecifiedMatching +OMIM:138850 GNRHR skos:exactMatch hgnc.symbol:GNRHR semapv:UnspecifiedMatching OMIM:138850 GNRHR skos:exactMatch ncbigene:2798 semapv:UnspecifiedMatching -OMIM:138890 GSC skos:exactMatch hgnc:GSC semapv:UnspecifiedMatching +OMIM:138890 GSC skos:exactMatch hgnc.symbol:4612 semapv:UnspecifiedMatching +OMIM:138890 GSC skos:exactMatch hgnc.symbol:GSC semapv:UnspecifiedMatching OMIM:138890 GSC skos:exactMatch ncbigene:145258 semapv:UnspecifiedMatching OMIM:138900 uric acid concentration, serum, quantitative trait locus 1 skos:exactMatch UMLS:C1841837 semapv:UnspecifiedMatching OMIM:138945 GRN skos:exactMatch UMLS:C0282513 semapv:UnspecifiedMatching @@ -2496,180 +3325,253 @@ OMIM:138945 GRN skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching OMIM:138945 GRN skos:exactMatch UMLS:C1415311 semapv:UnspecifiedMatching OMIM:138945 GRN skos:exactMatch UMLS:C3539123 semapv:UnspecifiedMatching OMIM:138945 GRN skos:exactMatch UMLS:C4016134 semapv:UnspecifiedMatching -OMIM:138945 GRN skos:exactMatch hgnc:GRN semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch hgnc.symbol:4601 semapv:UnspecifiedMatching +OMIM:138945 GRN skos:exactMatch hgnc.symbol:GRN semapv:UnspecifiedMatching OMIM:138945 GRN skos:exactMatch ncbigene:2896 semapv:UnspecifiedMatching -OMIM:138960 CSF2 skos:exactMatch hgnc:CSF2 semapv:UnspecifiedMatching +OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:2434 semapv:UnspecifiedMatching +OMIM:138960 CSF2 skos:exactMatch hgnc.symbol:CSF2 semapv:UnspecifiedMatching OMIM:138960 CSF2 skos:exactMatch ncbigene:1437 semapv:UnspecifiedMatching -OMIM:138965 CXCL6 skos:exactMatch hgnc:CXCL6 semapv:UnspecifiedMatching +OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:10643 semapv:UnspecifiedMatching +OMIM:138965 CXCL6 skos:exactMatch hgnc.symbol:CXCL6 semapv:UnspecifiedMatching OMIM:138965 CXCL6 skos:exactMatch ncbigene:6372 semapv:UnspecifiedMatching -OMIM:138970 CSF3 skos:exactMatch hgnc:CSF3 semapv:UnspecifiedMatching +OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:2438 semapv:UnspecifiedMatching +OMIM:138970 CSF3 skos:exactMatch hgnc.symbol:CSF3 semapv:UnspecifiedMatching OMIM:138970 CSF3 skos:exactMatch ncbigene:1440 semapv:UnspecifiedMatching -OMIM:138971 CSF3R skos:exactMatch hgnc:CSF3R semapv:UnspecifiedMatching +OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:2439 semapv:UnspecifiedMatching +OMIM:138971 CSF3R skos:exactMatch hgnc.symbol:CSF3R semapv:UnspecifiedMatching OMIM:138971 CSF3R skos:exactMatch ncbigene:1441 semapv:UnspecifiedMatching -OMIM:138972 CEBPG skos:exactMatch hgnc:CEBPG semapv:UnspecifiedMatching +OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:1837 semapv:UnspecifiedMatching +OMIM:138972 CEBPG skos:exactMatch hgnc.symbol:CEBPG semapv:UnspecifiedMatching OMIM:138972 CEBPG skos:exactMatch ncbigene:1054 semapv:UnspecifiedMatching -OMIM:138981 CSF2RB skos:exactMatch hgnc:CSF2RB semapv:UnspecifiedMatching +OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:2436 semapv:UnspecifiedMatching +OMIM:138981 CSF2RB skos:exactMatch hgnc.symbol:CSF2RB semapv:UnspecifiedMatching OMIM:138981 CSF2RB skos:exactMatch ncbigene:1439 semapv:UnspecifiedMatching -OMIM:139080 SLC25A16 skos:exactMatch hgnc:SLC25A16 semapv:UnspecifiedMatching +OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:10986 semapv:UnspecifiedMatching +OMIM:139080 SLC25A16 skos:exactMatch hgnc.symbol:SLC25A16 semapv:UnspecifiedMatching OMIM:139080 SLC25A16 skos:exactMatch ncbigene:8034 semapv:UnspecifiedMatching -OMIM:139110 CXCL2 skos:exactMatch hgnc:CXCL2 semapv:UnspecifiedMatching +OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:4603 semapv:UnspecifiedMatching +OMIM:139110 CXCL2 skos:exactMatch hgnc.symbol:CXCL2 semapv:UnspecifiedMatching OMIM:139110 CXCL2 skos:exactMatch ncbigene:2920 semapv:UnspecifiedMatching -OMIM:139111 CXCL3 skos:exactMatch hgnc:CXCL3 semapv:UnspecifiedMatching +OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:4604 semapv:UnspecifiedMatching +OMIM:139111 CXCL3 skos:exactMatch hgnc.symbol:CXCL3 semapv:UnspecifiedMatching OMIM:139111 CXCL3 skos:exactMatch ncbigene:2921 semapv:UnspecifiedMatching -OMIM:139130 GNB3 skos:exactMatch hgnc:GNB3 semapv:UnspecifiedMatching +OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:4400 semapv:UnspecifiedMatching +OMIM:139130 GNB3 skos:exactMatch hgnc.symbol:GNB3 semapv:UnspecifiedMatching OMIM:139130 GNB3 skos:exactMatch ncbigene:2784 semapv:UnspecifiedMatching -OMIM:139139 NR4A1 skos:exactMatch hgnc:NR4A1 semapv:UnspecifiedMatching +OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:7980 semapv:UnspecifiedMatching +OMIM:139139 NR4A1 skos:exactMatch hgnc.symbol:NR4A1 semapv:UnspecifiedMatching OMIM:139139 NR4A1 skos:exactMatch ncbigene:3164 semapv:UnspecifiedMatching OMIM:139150 RASA1 skos:exactMatch UMLS:C1419277 semapv:UnspecifiedMatching OMIM:139150 RASA1 skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching OMIM:139150 RASA1 skos:exactMatch UMLS:C4747394 semapv:UnspecifiedMatching -OMIM:139150 RASA1 skos:exactMatch hgnc:RASA1 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:9871 semapv:UnspecifiedMatching +OMIM:139150 RASA1 skos:exactMatch hgnc.symbol:RASA1 semapv:UnspecifiedMatching OMIM:139150 RASA1 skos:exactMatch ncbigene:5921 semapv:UnspecifiedMatching -OMIM:139160 GNAZ skos:exactMatch hgnc:GNAZ semapv:UnspecifiedMatching +OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:4395 semapv:UnspecifiedMatching +OMIM:139160 GNAZ skos:exactMatch hgnc.symbol:GNAZ semapv:UnspecifiedMatching OMIM:139160 GNAZ skos:exactMatch ncbigene:2781 semapv:UnspecifiedMatching -OMIM:139180 GNAI2P1 skos:exactMatch hgnc:GNAI2P1 semapv:UnspecifiedMatching +OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:4386 semapv:UnspecifiedMatching +OMIM:139180 GNAI2P1 skos:exactMatch hgnc.symbol:GNAI2P1 semapv:UnspecifiedMatching OMIM:139180 GNAI2P1 skos:exactMatch ncbigene:2772 semapv:UnspecifiedMatching -OMIM:139185 GAS1 skos:exactMatch hgnc:GAS1 semapv:UnspecifiedMatching +OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:4165 semapv:UnspecifiedMatching +OMIM:139185 GAS1 skos:exactMatch hgnc.symbol:GAS1 semapv:UnspecifiedMatching OMIM:139185 GAS1 skos:exactMatch ncbigene:2619 semapv:UnspecifiedMatching -OMIM:139190 GHRH skos:exactMatch hgnc:GHRH semapv:UnspecifiedMatching +OMIM:139190 GHRH skos:exactMatch hgnc.symbol:4265 semapv:UnspecifiedMatching +OMIM:139190 GHRH skos:exactMatch hgnc.symbol:GHRH semapv:UnspecifiedMatching OMIM:139190 GHRH skos:exactMatch ncbigene:2691 semapv:UnspecifiedMatching -OMIM:139191 GHRHR skos:exactMatch hgnc:GHRHR semapv:UnspecifiedMatching +OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:4266 semapv:UnspecifiedMatching +OMIM:139191 GHRHR skos:exactMatch hgnc.symbol:GHRHR semapv:UnspecifiedMatching OMIM:139191 GHRHR skos:exactMatch ncbigene:2692 semapv:UnspecifiedMatching -OMIM:139200 GC skos:exactMatch hgnc:GC semapv:UnspecifiedMatching +OMIM:139200 GC skos:exactMatch hgnc.symbol:4187 semapv:UnspecifiedMatching +OMIM:139200 GC skos:exactMatch hgnc.symbol:GC semapv:UnspecifiedMatching OMIM:139200 GC skos:exactMatch ncbigene:2638 semapv:UnspecifiedMatching +OMIM:139210 myhre syndrome skos:exactMatch Orphanet:2588 semapv:UnspecifiedMatching OMIM:139210 myhre syndrome skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching -OMIM:139210 myhre syndrome skos:exactMatch orphanet.ordo:2588 semapv:UnspecifiedMatching -OMIM:139240 GH2 skos:exactMatch hgnc:GH2 semapv:UnspecifiedMatching +OMIM:139240 GH2 skos:exactMatch hgnc.symbol:4262 semapv:UnspecifiedMatching +OMIM:139240 GH2 skos:exactMatch hgnc.symbol:GH2 semapv:UnspecifiedMatching OMIM:139240 GH2 skos:exactMatch ncbigene:2689 semapv:UnspecifiedMatching -OMIM:139250 GH1 skos:exactMatch hgnc:GH1 semapv:UnspecifiedMatching +OMIM:139250 GH1 skos:exactMatch hgnc.symbol:4261 semapv:UnspecifiedMatching +OMIM:139250 GH1 skos:exactMatch hgnc.symbol:GH1 semapv:UnspecifiedMatching OMIM:139250 GH1 skos:exactMatch ncbigene:2688 semapv:UnspecifiedMatching -OMIM:139255 MT3 skos:exactMatch hgnc:MT3 semapv:UnspecifiedMatching +OMIM:139255 MT3 skos:exactMatch hgnc.symbol:7408 semapv:UnspecifiedMatching +OMIM:139255 MT3 skos:exactMatch hgnc.symbol:MT3 semapv:UnspecifiedMatching OMIM:139255 MT3 skos:exactMatch ncbigene:4504 semapv:UnspecifiedMatching -OMIM:139259 GSPT1 skos:exactMatch hgnc:GSPT1 semapv:UnspecifiedMatching +OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:4621 semapv:UnspecifiedMatching +OMIM:139259 GSPT1 skos:exactMatch hgnc.symbol:GSPT1 semapv:UnspecifiedMatching OMIM:139259 GSPT1 skos:exactMatch ncbigene:2935 semapv:UnspecifiedMatching -OMIM:139260 GDA skos:exactMatch hgnc:GDA semapv:UnspecifiedMatching +OMIM:139260 GDA skos:exactMatch hgnc.symbol:4212 semapv:UnspecifiedMatching +OMIM:139260 GDA skos:exactMatch hgnc.symbol:GDA semapv:UnspecifiedMatching OMIM:139260 GDA skos:exactMatch ncbigene:9615 semapv:UnspecifiedMatching OMIM:139265 GMPR skos:exactMatch UMLS:C1415135 semapv:UnspecifiedMatching OMIM:139265 GMPR skos:exactMatch UMLS:C4016138 semapv:UnspecifiedMatching -OMIM:139265 GMPR skos:exactMatch hgnc:GMPR semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch hgnc.symbol:4376 semapv:UnspecifiedMatching +OMIM:139265 GMPR skos:exactMatch hgnc.symbol:GMPR semapv:UnspecifiedMatching OMIM:139265 GMPR skos:exactMatch ncbigene:2766 semapv:UnspecifiedMatching -OMIM:139270 GUK1 skos:exactMatch hgnc:GUK1 semapv:UnspecifiedMatching +OMIM:139270 GUK1 skos:exactMatch hgnc.symbol:4693 semapv:UnspecifiedMatching +OMIM:139270 GUK1 skos:exactMatch hgnc.symbol:GUK1 semapv:UnspecifiedMatching OMIM:139270 GUK1 skos:exactMatch ncbigene:2987 semapv:UnspecifiedMatching -OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc:GUK2 semapv:UnspecifiedMatching -OMIM:139310 GNAI1 skos:exactMatch hgnc:GNAI1 semapv:UnspecifiedMatching +OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc.symbol:4694 semapv:UnspecifiedMatching +OMIM:139280 guanylate kinase 2 skos:exactMatch hgnc.symbol:GUK2 semapv:UnspecifiedMatching +OMIM:139310 GNAI1 skos:exactMatch hgnc.symbol:4384 semapv:UnspecifiedMatching +OMIM:139310 GNAI1 skos:exactMatch hgnc.symbol:GNAI1 semapv:UnspecifiedMatching OMIM:139310 GNAI1 skos:exactMatch ncbigene:2770 semapv:UnspecifiedMatching OMIM:139311 GNAO1 skos:exactMatch UMLS:C1415146 semapv:UnspecifiedMatching OMIM:139311 GNAO1 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching OMIM:139311 GNAO1 skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching -OMIM:139311 GNAO1 skos:exactMatch hgnc:GNAO1 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch hgnc.symbol:4389 semapv:UnspecifiedMatching +OMIM:139311 GNAO1 skos:exactMatch hgnc.symbol:GNAO1 semapv:UnspecifiedMatching OMIM:139311 GNAO1 skos:exactMatch ncbigene:2775 semapv:UnspecifiedMatching -OMIM:139312 GNAL skos:exactMatch hgnc:GNAL semapv:UnspecifiedMatching +OMIM:139312 GNAL skos:exactMatch hgnc.symbol:4388 semapv:UnspecifiedMatching +OMIM:139312 GNAL skos:exactMatch hgnc.symbol:GNAL semapv:UnspecifiedMatching OMIM:139312 GNAL skos:exactMatch ncbigene:2774 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch UMLS:C1415138 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch UMLS:C3809243 semapv:UnspecifiedMatching -OMIM:139313 GNA11 skos:exactMatch hgnc:GNA11 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:4379 semapv:UnspecifiedMatching +OMIM:139313 GNA11 skos:exactMatch hgnc.symbol:GNA11 semapv:UnspecifiedMatching OMIM:139313 GNA11 skos:exactMatch ncbigene:2767 semapv:UnspecifiedMatching -OMIM:139314 GNA15 skos:exactMatch hgnc:GNA15 semapv:UnspecifiedMatching +OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:4383 semapv:UnspecifiedMatching +OMIM:139314 GNA15 skos:exactMatch hgnc.symbol:GNA15 semapv:UnspecifiedMatching OMIM:139314 GNA15 skos:exactMatch ncbigene:2769 semapv:UnspecifiedMatching -OMIM:139320 GNAS skos:exactMatch hgnc:GNAS semapv:UnspecifiedMatching +OMIM:139320 GNAS skos:exactMatch hgnc.symbol:4392 semapv:UnspecifiedMatching +OMIM:139320 GNAS skos:exactMatch hgnc.symbol:GNAS semapv:UnspecifiedMatching OMIM:139320 GNAS skos:exactMatch ncbigene:2778 semapv:UnspecifiedMatching -OMIM:139330 GNAT1 skos:exactMatch hgnc:GNAT1 semapv:UnspecifiedMatching +OMIM:139330 GNAT1 skos:exactMatch hgnc.symbol:4393 semapv:UnspecifiedMatching +OMIM:139330 GNAT1 skos:exactMatch hgnc.symbol:GNAT1 semapv:UnspecifiedMatching OMIM:139330 GNAT1 skos:exactMatch ncbigene:2779 semapv:UnspecifiedMatching -OMIM:139340 GNAT2 skos:exactMatch hgnc:GNAT2 semapv:UnspecifiedMatching +OMIM:139340 GNAT2 skos:exactMatch hgnc.symbol:4394 semapv:UnspecifiedMatching +OMIM:139340 GNAT2 skos:exactMatch hgnc.symbol:GNAT2 semapv:UnspecifiedMatching OMIM:139340 GNAT2 skos:exactMatch ncbigene:2780 semapv:UnspecifiedMatching -OMIM:139350 KRT1 skos:exactMatch hgnc:KRT1 semapv:UnspecifiedMatching +OMIM:139350 KRT1 skos:exactMatch hgnc.symbol:6412 semapv:UnspecifiedMatching +OMIM:139350 KRT1 skos:exactMatch hgnc.symbol:KRT1 semapv:UnspecifiedMatching OMIM:139350 KRT1 skos:exactMatch ncbigene:3848 semapv:UnspecifiedMatching -OMIM:139360 GNAI2 skos:exactMatch hgnc:GNAI2 semapv:UnspecifiedMatching +OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:4385 semapv:UnspecifiedMatching +OMIM:139360 GNAI2 skos:exactMatch hgnc.symbol:GNAI2 semapv:UnspecifiedMatching OMIM:139360 GNAI2 skos:exactMatch ncbigene:2771 semapv:UnspecifiedMatching -OMIM:139370 GNAI3 skos:exactMatch hgnc:GNAI3 semapv:UnspecifiedMatching +OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:4387 semapv:UnspecifiedMatching +OMIM:139370 GNAI3 skos:exactMatch hgnc.symbol:GNAI3 semapv:UnspecifiedMatching OMIM:139370 GNAI3 skos:exactMatch ncbigene:2773 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C1333687 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C4016619 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C4310774 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch UMLS:C4310990 semapv:UnspecifiedMatching -OMIM:139380 GNB1 skos:exactMatch hgnc:GNB1 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:4396 semapv:UnspecifiedMatching +OMIM:139380 GNB1 skos:exactMatch hgnc.symbol:GNB1 semapv:UnspecifiedMatching OMIM:139380 GNB1 skos:exactMatch ncbigene:2782 semapv:UnspecifiedMatching -OMIM:139390 GNB2 skos:exactMatch hgnc:GNB2 semapv:UnspecifiedMatching +OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:4398 semapv:UnspecifiedMatching +OMIM:139390 GNB2 skos:exactMatch hgnc.symbol:GNB2 semapv:UnspecifiedMatching OMIM:139390 GNB2 skos:exactMatch ncbigene:2783 semapv:UnspecifiedMatching -OMIM:139391 GNGT2 skos:exactMatch hgnc:GNGT2 semapv:UnspecifiedMatching +OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:4412 semapv:UnspecifiedMatching +OMIM:139391 GNGT2 skos:exactMatch hgnc.symbol:GNGT2 semapv:UnspecifiedMatching OMIM:139391 GNGT2 skos:exactMatch ncbigene:2793 semapv:UnspecifiedMatching -OMIM:139392 GUCA2A skos:exactMatch hgnc:GUCA2A semapv:UnspecifiedMatching +OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:4682 semapv:UnspecifiedMatching +OMIM:139392 GUCA2A skos:exactMatch hgnc.symbol:GUCA2A semapv:UnspecifiedMatching OMIM:139392 GUCA2A skos:exactMatch ncbigene:2980 semapv:UnspecifiedMatching -OMIM:139395 GNAT3 skos:exactMatch hgnc:GNAT3 semapv:UnspecifiedMatching +OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:22800 semapv:UnspecifiedMatching +OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:GNAT3 semapv:UnspecifiedMatching OMIM:139395 GNAT3 skos:exactMatch ncbigene:346562 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch hgnc:GUCY1A1 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:4685 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:GUCY1A1 semapv:UnspecifiedMatching OMIM:139396 GUCY1A3 skos:exactMatch ncbigene:2982 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch hgnc:GUCY1B1 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:4687 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatching OMIM:139397 GUCY1B3 skos:exactMatch ncbigene:2983 semapv:UnspecifiedMatching OMIM:139605 HES1 skos:exactMatch UMLS:C1415725 semapv:UnspecifiedMatching -OMIM:139605 HES1 skos:exactMatch hgnc:HES1 semapv:UnspecifiedMatching +OMIM:139605 HES1 skos:exactMatch hgnc.symbol:5192 semapv:UnspecifiedMatching +OMIM:139605 HES1 skos:exactMatch hgnc.symbol:HES1 semapv:UnspecifiedMatching OMIM:139605 HES1 skos:exactMatch ncbigene:3280 semapv:UnspecifiedMatching +OMIM:140000 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching OMIM:140000 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching -OMIM:140000 hand-foot-genital syndrome skos:exactMatch orphanet.ordo:2438 semapv:UnspecifiedMatching OMIM:140050 GZMA skos:exactMatch UMLS:C1415379 semapv:UnspecifiedMatching -OMIM:140050 GZMA skos:exactMatch hgnc:GZMA semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch hgnc.symbol:4708 semapv:UnspecifiedMatching +OMIM:140050 GZMA skos:exactMatch hgnc.symbol:GZMA semapv:UnspecifiedMatching OMIM:140050 GZMA skos:exactMatch ncbigene:3001 semapv:UnspecifiedMatching -OMIM:140100 HP skos:exactMatch hgnc:HP semapv:UnspecifiedMatching +OMIM:140100 HP skos:exactMatch hgnc.symbol:5141 semapv:UnspecifiedMatching +OMIM:140100 HP skos:exactMatch hgnc.symbol:HP semapv:UnspecifiedMatching OMIM:140100 HP skos:exactMatch ncbigene:3240 semapv:UnspecifiedMatching -OMIM:140210 HPR skos:exactMatch hgnc:HPR semapv:UnspecifiedMatching +OMIM:140210 HPR skos:exactMatch hgnc.symbol:5156 semapv:UnspecifiedMatching +OMIM:140210 HPR skos:exactMatch hgnc.symbol:HPR semapv:UnspecifiedMatching OMIM:140210 HPR skos:exactMatch ncbigene:3250 semapv:UnspecifiedMatching +OMIM:140350 hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching OMIM:140350 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching -OMIM:140350 hawkinsinuria skos:exactMatch orphanet.ordo:2118 semapv:UnspecifiedMatching -OMIM:140550 HSPA1A skos:exactMatch hgnc:HSPA1A semapv:UnspecifiedMatching +OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:5232 semapv:UnspecifiedMatching +OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:HSPA1A semapv:UnspecifiedMatching OMIM:140550 HSPA1A skos:exactMatch ncbigene:3303 semapv:UnspecifiedMatching -OMIM:140555 HSPA6 skos:exactMatch hgnc:HSPA6 semapv:UnspecifiedMatching +OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:5239 semapv:UnspecifiedMatching +OMIM:140555 HSPA6 skos:exactMatch hgnc.symbol:HSPA6 semapv:UnspecifiedMatching OMIM:140555 HSPA6 skos:exactMatch ncbigene:3310 semapv:UnspecifiedMatching OMIM:140556 HSPA7 skos:exactMatch UMLS:C1415763 semapv:UnspecifiedMatching -OMIM:140556 HSPA7 skos:exactMatch hgnc:HSPA7 semapv:UnspecifiedMatching +OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:5240 semapv:UnspecifiedMatching +OMIM:140556 HSPA7 skos:exactMatch hgnc.symbol:HSPA7 semapv:UnspecifiedMatching OMIM:140556 HSPA7 skos:exactMatch ncbigene:3311 semapv:UnspecifiedMatching OMIM:140559 HSPA1L skos:exactMatch UMLS:C1415757 semapv:UnspecifiedMatching -OMIM:140559 HSPA1L skos:exactMatch hgnc:HSPA1L semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:5234 semapv:UnspecifiedMatching +OMIM:140559 HSPA1L skos:exactMatch hgnc.symbol:HSPA1L semapv:UnspecifiedMatching OMIM:140559 HSPA1L skos:exactMatch ncbigene:3305 semapv:UnspecifiedMatching -OMIM:140560 HSPA2 skos:exactMatch hgnc:HSPA2 semapv:UnspecifiedMatching +OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:5235 semapv:UnspecifiedMatching +OMIM:140560 HSPA2 skos:exactMatch hgnc.symbol:HSPA2 semapv:UnspecifiedMatching OMIM:140560 HSPA2 skos:exactMatch ncbigene:3306 semapv:UnspecifiedMatching -OMIM:140571 HSP90AA1 skos:exactMatch hgnc:HSP90AA1 semapv:UnspecifiedMatching +OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:5253 semapv:UnspecifiedMatching +OMIM:140571 HSP90AA1 skos:exactMatch hgnc.symbol:HSP90AA1 semapv:UnspecifiedMatching OMIM:140571 HSP90AA1 skos:exactMatch ncbigene:3320 semapv:UnspecifiedMatching -OMIM:140572 HSP90AB1 skos:exactMatch hgnc:HSP90AB1 semapv:UnspecifiedMatching +OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:5258 semapv:UnspecifiedMatching +OMIM:140572 HSP90AB1 skos:exactMatch hgnc.symbol:HSP90AB1 semapv:UnspecifiedMatching OMIM:140572 HSP90AB1 skos:exactMatch ncbigene:3326 semapv:UnspecifiedMatching -OMIM:140575 HSP90AA2P skos:exactMatch hgnc:HSP90AA2P semapv:UnspecifiedMatching +OMIM:140575 HSP90AA2P skos:exactMatch hgnc.symbol:5256 semapv:UnspecifiedMatching +OMIM:140575 HSP90AA2P skos:exactMatch hgnc.symbol:HSP90AA2P semapv:UnspecifiedMatching OMIM:140575 HSP90AA2P skos:exactMatch ncbigene:3324 semapv:UnspecifiedMatching -OMIM:140580 HSF1 skos:exactMatch hgnc:HSF1 semapv:UnspecifiedMatching +OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:5224 semapv:UnspecifiedMatching +OMIM:140580 HSF1 skos:exactMatch hgnc.symbol:HSF1 semapv:UnspecifiedMatching OMIM:140580 HSF1 skos:exactMatch ncbigene:3297 semapv:UnspecifiedMatching -OMIM:140581 HSF2 skos:exactMatch hgnc:HSF2 semapv:UnspecifiedMatching +OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:5225 semapv:UnspecifiedMatching +OMIM:140581 HSF2 skos:exactMatch hgnc.symbol:HSF2 semapv:UnspecifiedMatching OMIM:140581 HSF2 skos:exactMatch ncbigene:3298 semapv:UnspecifiedMatching -OMIM:140750 ST5 skos:exactMatch hgnc:DENND2B semapv:UnspecifiedMatching +OMIM:140750 ST5 skos:exactMatch hgnc.symbol:11350 semapv:UnspecifiedMatching +OMIM:140750 ST5 skos:exactMatch hgnc.symbol:DENND2B semapv:UnspecifiedMatching OMIM:140750 ST5 skos:exactMatch ncbigene:6764 semapv:UnspecifiedMatching OMIM:141180 NCKAP1L skos:exactMatch UMLS:C1826388 semapv:UnspecifiedMatching OMIM:141180 NCKAP1L skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching -OMIM:141180 NCKAP1L skos:exactMatch hgnc:NCKAP1L semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:4862 semapv:UnspecifiedMatching +OMIM:141180 NCKAP1L skos:exactMatch hgnc.symbol:NCKAP1L semapv:UnspecifiedMatching OMIM:141180 NCKAP1L skos:exactMatch ncbigene:3071 semapv:UnspecifiedMatching -OMIM:141250 HMOX1 skos:exactMatch hgnc:HMOX1 semapv:UnspecifiedMatching +OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:5013 semapv:UnspecifiedMatching +OMIM:141250 HMOX1 skos:exactMatch hgnc.symbol:HMOX1 semapv:UnspecifiedMatching OMIM:141250 HMOX1 skos:exactMatch ncbigene:3162 semapv:UnspecifiedMatching -OMIM:141251 HMOX2 skos:exactMatch hgnc:HMOX2 semapv:UnspecifiedMatching +OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:5014 semapv:UnspecifiedMatching +OMIM:141251 HMOX2 skos:exactMatch hgnc.symbol:HMOX2 semapv:UnspecifiedMatching OMIM:141251 HMOX2 skos:exactMatch ncbigene:3163 semapv:UnspecifiedMatching +OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch UMLS:C1832884 semapv:UnspecifiedMatching -OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch orphanet.ordo:569 semapv:UnspecifiedMatching -OMIM:141800 HBA1 skos:exactMatch hgnc:HBA1 semapv:UnspecifiedMatching +OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:4823 semapv:UnspecifiedMatching +OMIM:141800 HBA1 skos:exactMatch hgnc.symbol:HBA1 semapv:UnspecifiedMatching OMIM:141800 HBA1 skos:exactMatch ncbigene:3039 semapv:UnspecifiedMatching -OMIM:141850 HBA2 skos:exactMatch hgnc:HBA2 semapv:UnspecifiedMatching +OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:4824 semapv:UnspecifiedMatching +OMIM:141850 HBA2 skos:exactMatch hgnc.symbol:HBA2 semapv:UnspecifiedMatching OMIM:141850 HBA2 skos:exactMatch ncbigene:3040 semapv:UnspecifiedMatching -OMIM:141900 HBB skos:exactMatch hgnc:HBB semapv:UnspecifiedMatching +OMIM:141900 HBB skos:exactMatch hgnc.symbol:4827 semapv:UnspecifiedMatching +OMIM:141900 HBB skos:exactMatch hgnc.symbol:HBB semapv:UnspecifiedMatching OMIM:141900 HBB skos:exactMatch ncbigene:3043 semapv:UnspecifiedMatching -OMIM:142000 HBD skos:exactMatch hgnc:HBD semapv:UnspecifiedMatching +OMIM:142000 HBD skos:exactMatch hgnc.symbol:4829 semapv:UnspecifiedMatching +OMIM:142000 HBD skos:exactMatch hgnc.symbol:HBD semapv:UnspecifiedMatching OMIM:142000 HBD skos:exactMatch ncbigene:3045 semapv:UnspecifiedMatching -OMIM:142100 HBE1 skos:exactMatch hgnc:HBE1 semapv:UnspecifiedMatching +OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:4830 semapv:UnspecifiedMatching +OMIM:142100 HBE1 skos:exactMatch hgnc.symbol:HBE1 semapv:UnspecifiedMatching OMIM:142100 HBE1 skos:exactMatch ncbigene:3046 semapv:UnspecifiedMatching -OMIM:142200 HBG1 skos:exactMatch hgnc:HBG1 semapv:UnspecifiedMatching +OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:4831 semapv:UnspecifiedMatching +OMIM:142200 HBG1 skos:exactMatch hgnc.symbol:HBG1 semapv:UnspecifiedMatching OMIM:142200 HBG1 skos:exactMatch ncbigene:3047 semapv:UnspecifiedMatching -OMIM:142210 HIST1H1D skos:exactMatch hgnc:H1-3 semapv:UnspecifiedMatching +OMIM:142210 HIST1H1D skos:exactMatch hgnc.symbol:4717 semapv:UnspecifiedMatching +OMIM:142210 HIST1H1D skos:exactMatch hgnc.symbol:H1-3 semapv:UnspecifiedMatching OMIM:142210 HIST1H1D skos:exactMatch ncbigene:3007 semapv:UnspecifiedMatching -OMIM:142220 HIST1H1E skos:exactMatch hgnc:H1-4 semapv:UnspecifiedMatching +OMIM:142220 HIST1H1E skos:exactMatch hgnc.symbol:4718 semapv:UnspecifiedMatching +OMIM:142220 HIST1H1E skos:exactMatch hgnc.symbol:H1-4 semapv:UnspecifiedMatching OMIM:142220 HIST1H1E skos:exactMatch ncbigene:3008 semapv:UnspecifiedMatching -OMIM:142230 CD34 skos:exactMatch hgnc:CD34 semapv:UnspecifiedMatching +OMIM:142230 CD34 skos:exactMatch hgnc.symbol:1662 semapv:UnspecifiedMatching +OMIM:142230 CD34 skos:exactMatch hgnc.symbol:CD34 semapv:UnspecifiedMatching OMIM:142230 CD34 skos:exactMatch ncbigene:947 semapv:UnspecifiedMatching -OMIM:142240 HBQ1 skos:exactMatch hgnc:HBQ1 semapv:UnspecifiedMatching +OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:4833 semapv:UnspecifiedMatching +OMIM:142240 HBQ1 skos:exactMatch hgnc.symbol:HBQ1 semapv:UnspecifiedMatching OMIM:142240 HBQ1 skos:exactMatch ncbigene:3049 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C0019025 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C1415486 semapv:UnspecifiedMatching @@ -2715,21 +3617,29 @@ OMIM:142250 HBG2 skos:exactMatch UMLS:C4285228 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285229 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4285230 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch UMLS:C4310970 semapv:UnspecifiedMatching -OMIM:142250 HBG2 skos:exactMatch hgnc:HBG2 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:4832 semapv:UnspecifiedMatching +OMIM:142250 HBG2 skos:exactMatch hgnc.symbol:HBG2 semapv:UnspecifiedMatching OMIM:142250 HBG2 skos:exactMatch ncbigene:3048 semapv:UnspecifiedMatching -OMIM:142290 HPX skos:exactMatch hgnc:HPX semapv:UnspecifiedMatching +OMIM:142290 HPX skos:exactMatch hgnc.symbol:5171 semapv:UnspecifiedMatching +OMIM:142290 HPX skos:exactMatch hgnc.symbol:HPX semapv:UnspecifiedMatching OMIM:142290 HPX skos:exactMatch ncbigene:3263 semapv:UnspecifiedMatching -OMIM:142310 HBZ skos:exactMatch hgnc:HBZ semapv:UnspecifiedMatching +OMIM:142310 HBZ skos:exactMatch hgnc.symbol:4835 semapv:UnspecifiedMatching +OMIM:142310 HBZ skos:exactMatch hgnc.symbol:HBZ semapv:UnspecifiedMatching OMIM:142310 HBZ skos:exactMatch ncbigene:3050 semapv:UnspecifiedMatching -OMIM:142360 HCF2 skos:exactMatch hgnc:SERPIND1 semapv:UnspecifiedMatching +OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:4838 semapv:UnspecifiedMatching +OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:SERPIND1 semapv:UnspecifiedMatching OMIM:142360 HCF2 skos:exactMatch ncbigene:3053 semapv:UnspecifiedMatching -OMIM:142370 HCK skos:exactMatch hgnc:HCK semapv:UnspecifiedMatching +OMIM:142370 HCK skos:exactMatch hgnc.symbol:4840 semapv:UnspecifiedMatching +OMIM:142370 HCK skos:exactMatch hgnc.symbol:HCK semapv:UnspecifiedMatching OMIM:142370 HCK skos:exactMatch ncbigene:3055 semapv:UnspecifiedMatching -OMIM:142385 HLF skos:exactMatch hgnc:HLF semapv:UnspecifiedMatching +OMIM:142385 HLF skos:exactMatch hgnc.symbol:4977 semapv:UnspecifiedMatching +OMIM:142385 HLF skos:exactMatch hgnc.symbol:HLF semapv:UnspecifiedMatching OMIM:142385 HLF skos:exactMatch ncbigene:3131 semapv:UnspecifiedMatching -OMIM:142408 MST1 skos:exactMatch hgnc:MST1 semapv:UnspecifiedMatching +OMIM:142408 MST1 skos:exactMatch hgnc.symbol:7380 semapv:UnspecifiedMatching +OMIM:142408 MST1 skos:exactMatch hgnc.symbol:MST1 semapv:UnspecifiedMatching OMIM:142408 MST1 skos:exactMatch ncbigene:4485 semapv:UnspecifiedMatching -OMIM:142409 HGF skos:exactMatch hgnc:HGF semapv:UnspecifiedMatching +OMIM:142409 HGF skos:exactMatch hgnc.symbol:4893 semapv:UnspecifiedMatching +OMIM:142409 HGF skos:exactMatch hgnc.symbol:HGF semapv:UnspecifiedMatching OMIM:142409 HGF skos:exactMatch ncbigene:3082 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C1266042 semapv:UnspecifiedMatching @@ -2740,497 +3650,686 @@ OMIM:142410 HNF1A skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C3276902 semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:142410 HNF1A skos:exactMatch hgnc:HNF1A semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:11621 semapv:UnspecifiedMatching +OMIM:142410 HNF1A skos:exactMatch hgnc.symbol:HNF1A semapv:UnspecifiedMatching OMIM:142410 HNF1A skos:exactMatch ncbigene:6927 semapv:UnspecifiedMatching -OMIM:142440 HPN skos:exactMatch hgnc:HPN semapv:UnspecifiedMatching +OMIM:142440 HPN skos:exactMatch hgnc.symbol:5155 semapv:UnspecifiedMatching +OMIM:142440 HPN skos:exactMatch hgnc.symbol:HPN semapv:UnspecifiedMatching OMIM:142440 HPN skos:exactMatch ncbigene:3249 semapv:UnspecifiedMatching -OMIM:142445 NRG1 skos:exactMatch hgnc:NRG1 semapv:UnspecifiedMatching +OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:7997 semapv:UnspecifiedMatching +OMIM:142445 NRG1 skos:exactMatch hgnc.symbol:NRG1 semapv:UnspecifiedMatching OMIM:142445 NRG1 skos:exactMatch ncbigene:3084 semapv:UnspecifiedMatching -OMIM:142460 SDC2 skos:exactMatch hgnc:SDC2 semapv:UnspecifiedMatching +OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:10659 semapv:UnspecifiedMatching +OMIM:142460 SDC2 skos:exactMatch hgnc.symbol:SDC2 semapv:UnspecifiedMatching OMIM:142460 SDC2 skos:exactMatch ncbigene:6383 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch UMLS:C1415793 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch UMLS:C4551479 semapv:UnspecifiedMatching -OMIM:142461 HSPG2 skos:exactMatch hgnc:HSPG2 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:5273 semapv:UnspecifiedMatching +OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:HSPG2 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch ncbigene:3339 semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch UMLS:C1422269 semapv:UnspecifiedMatching -OMIM:142560 DDX39B skos:exactMatch hgnc:DDX39B semapv:UnspecifiedMatching +OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:13917 semapv:UnspecifiedMatching +OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:DDX39B semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch ncbigene:7919 semapv:UnspecifiedMatching -OMIM:142570 HK3 skos:exactMatch hgnc:HK3 semapv:UnspecifiedMatching +OMIM:142570 HK3 skos:exactMatch hgnc.symbol:4925 semapv:UnspecifiedMatching +OMIM:142570 HK3 skos:exactMatch hgnc.symbol:HK3 semapv:UnspecifiedMatching OMIM:142570 HK3 skos:exactMatch ncbigene:3101 semapv:UnspecifiedMatching -OMIM:142580 PRRC2A skos:exactMatch hgnc:PRRC2A semapv:UnspecifiedMatching +OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:13918 semapv:UnspecifiedMatching +OMIM:142580 PRRC2A skos:exactMatch hgnc.symbol:PRRC2A semapv:UnspecifiedMatching OMIM:142580 PRRC2A skos:exactMatch ncbigene:7916 semapv:UnspecifiedMatching -OMIM:142590 BAG6 skos:exactMatch hgnc:BAG6 semapv:UnspecifiedMatching +OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:13919 semapv:UnspecifiedMatching +OMIM:142590 BAG6 skos:exactMatch hgnc.symbol:BAG6 semapv:UnspecifiedMatching OMIM:142590 BAG6 skos:exactMatch ncbigene:7917 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C1415554 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C1854449 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C3150343 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C4479526 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch UMLS:C5231404 semapv:UnspecifiedMatching -OMIM:142600 HK1 skos:exactMatch hgnc:HK1 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch hgnc.symbol:4922 semapv:UnspecifiedMatching +OMIM:142600 HK1 skos:exactMatch hgnc.symbol:HK1 semapv:UnspecifiedMatching OMIM:142600 HK1 skos:exactMatch ncbigene:3098 semapv:UnspecifiedMatching -OMIM:142610 GPANK1 skos:exactMatch hgnc:GPANK1 semapv:UnspecifiedMatching +OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:13920 semapv:UnspecifiedMatching +OMIM:142610 GPANK1 skos:exactMatch hgnc.symbol:GPANK1 semapv:UnspecifiedMatching OMIM:142610 GPANK1 skos:exactMatch ncbigene:7918 semapv:UnspecifiedMatching OMIM:142620 ABHD16A skos:exactMatch UMLS:C1422273 semapv:UnspecifiedMatching -OMIM:142620 ABHD16A skos:exactMatch hgnc:ABHD16A semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:13921 semapv:UnspecifiedMatching +OMIM:142620 ABHD16A skos:exactMatch hgnc.symbol:ABHD16A semapv:UnspecifiedMatching OMIM:142620 ABHD16A skos:exactMatch ncbigene:7920 semapv:UnspecifiedMatching -OMIM:142622 HPCA skos:exactMatch hgnc:HPCA semapv:UnspecifiedMatching +OMIM:142622 HPCA skos:exactMatch hgnc.symbol:5144 semapv:UnspecifiedMatching +OMIM:142622 HPCA skos:exactMatch hgnc.symbol:HPCA semapv:UnspecifiedMatching OMIM:142622 HPCA skos:exactMatch ncbigene:3208 semapv:UnspecifiedMatching -OMIM:142640 HRG skos:exactMatch hgnc:HRG semapv:UnspecifiedMatching +OMIM:142640 HRG skos:exactMatch hgnc.symbol:5181 semapv:UnspecifiedMatching +OMIM:142640 HRG skos:exactMatch hgnc.symbol:HRG semapv:UnspecifiedMatching OMIM:142640 HRG skos:exactMatch ncbigene:3273 semapv:UnspecifiedMatching +OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch Orphanet:32960 semapv:UnspecifiedMatching OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching -OMIM:142680 periodic fever, familial, autosomal dominant skos:exactMatch orphanet.ordo:32960 semapv:UnspecifiedMatching -OMIM:142695 HDLBP skos:exactMatch hgnc:HDLBP semapv:UnspecifiedMatching +OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:4857 semapv:UnspecifiedMatching +OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:HDLBP semapv:UnspecifiedMatching OMIM:142695 HDLBP skos:exactMatch ncbigene:3069 semapv:UnspecifiedMatching -OMIM:142701 HTN1 skos:exactMatch hgnc:HTN1 semapv:UnspecifiedMatching +OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:5283 semapv:UnspecifiedMatching +OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:HTN1 semapv:UnspecifiedMatching OMIM:142701 HTN1 skos:exactMatch ncbigene:3346 semapv:UnspecifiedMatching -OMIM:142702 HTN3 skos:exactMatch hgnc:HTN3 semapv:UnspecifiedMatching +OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:5284 semapv:UnspecifiedMatching +OMIM:142702 HTN3 skos:exactMatch hgnc.symbol:HTN3 semapv:UnspecifiedMatching OMIM:142702 HTN3 skos:exactMatch ncbigene:3347 semapv:UnspecifiedMatching -OMIM:142703 HRH2 skos:exactMatch hgnc:HRH2 semapv:UnspecifiedMatching +OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:5183 semapv:UnspecifiedMatching +OMIM:142703 HRH2 skos:exactMatch hgnc.symbol:HRH2 semapv:UnspecifiedMatching OMIM:142703 HRH2 skos:exactMatch ncbigene:3274 semapv:UnspecifiedMatching -OMIM:142704 HDC skos:exactMatch hgnc:HDC semapv:UnspecifiedMatching +OMIM:142704 HDC skos:exactMatch hgnc.symbol:4855 semapv:UnspecifiedMatching +OMIM:142704 HDC skos:exactMatch hgnc.symbol:HDC semapv:UnspecifiedMatching OMIM:142704 HDC skos:exactMatch ncbigene:3067 semapv:UnspecifiedMatching -OMIM:142705 HRC skos:exactMatch hgnc:HRC semapv:UnspecifiedMatching +OMIM:142705 HRC skos:exactMatch hgnc.symbol:5178 semapv:UnspecifiedMatching +OMIM:142705 HRC skos:exactMatch hgnc.symbol:HRC semapv:UnspecifiedMatching OMIM:142705 HRC skos:exactMatch ncbigene:3270 semapv:UnspecifiedMatching -OMIM:142708 H1F0 skos:exactMatch hgnc:H1-0 semapv:UnspecifiedMatching +OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:4714 semapv:UnspecifiedMatching +OMIM:142708 H1F0 skos:exactMatch hgnc.symbol:H1-0 semapv:UnspecifiedMatching OMIM:142708 H1F0 skos:exactMatch ncbigene:3005 semapv:UnspecifiedMatching -OMIM:142709 HIST1H1A skos:exactMatch hgnc:H1-1 semapv:UnspecifiedMatching +OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:4715 semapv:UnspecifiedMatching +OMIM:142709 HIST1H1A skos:exactMatch hgnc.symbol:H1-1 semapv:UnspecifiedMatching OMIM:142709 HIST1H1A skos:exactMatch ncbigene:3024 semapv:UnspecifiedMatching -OMIM:142710 HIST1H1C skos:exactMatch hgnc:H1-2 semapv:UnspecifiedMatching +OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:4716 semapv:UnspecifiedMatching +OMIM:142710 HIST1H1C skos:exactMatch hgnc.symbol:H1-2 semapv:UnspecifiedMatching OMIM:142710 HIST1H1C skos:exactMatch ncbigene:3006 semapv:UnspecifiedMatching -OMIM:142711 HIST1H1B skos:exactMatch hgnc:H1-5 semapv:UnspecifiedMatching +OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:4719 semapv:UnspecifiedMatching +OMIM:142711 HIST1H1B skos:exactMatch hgnc.symbol:H1-5 semapv:UnspecifiedMatching OMIM:142711 HIST1H1B skos:exactMatch ncbigene:3009 semapv:UnspecifiedMatching -OMIM:142712 HIST1H1T skos:exactMatch hgnc:H1-6 semapv:UnspecifiedMatching +OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:4720 semapv:UnspecifiedMatching +OMIM:142712 HIST1H1T skos:exactMatch hgnc.symbol:H1-6 semapv:UnspecifiedMatching OMIM:142712 HIST1H1T skos:exactMatch ncbigene:3010 semapv:UnspecifiedMatching -OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc:H2AC18 semapv:UnspecifiedMatching +OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:4736 semapv:UnspecifiedMatching +OMIM:142720 HIST2H2AA3 skos:exactMatch hgnc.symbol:H2AC18 semapv:UnspecifiedMatching OMIM:142720 HIST2H2AA3 skos:exactMatch ncbigene:8337 semapv:UnspecifiedMatching -OMIM:142750 H4C14 skos:exactMatch hgnc:H4C14 semapv:UnspecifiedMatching +OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:4794 semapv:UnspecifiedMatching +OMIM:142750 H4C14 skos:exactMatch hgnc.symbol:H4C14 semapv:UnspecifiedMatching OMIM:142750 H4C14 skos:exactMatch ncbigene:8370 semapv:UnspecifiedMatching OMIM:142763 H2AZ1 skos:exactMatch UMLS:C1415408 semapv:UnspecifiedMatching -OMIM:142763 H2AZ1 skos:exactMatch hgnc:H2AZ1 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:4741 semapv:UnspecifiedMatching +OMIM:142763 H2AZ1 skos:exactMatch hgnc.symbol:H2AZ1 semapv:UnspecifiedMatching OMIM:142763 H2AZ1 skos:exactMatch ncbigene:3015 semapv:UnspecifiedMatching -OMIM:142765 RFX2 skos:exactMatch hgnc:RFX2 semapv:UnspecifiedMatching +OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:9983 semapv:UnspecifiedMatching +OMIM:142765 RFX2 skos:exactMatch hgnc.symbol:RFX2 semapv:UnspecifiedMatching OMIM:142765 RFX2 skos:exactMatch ncbigene:5990 semapv:UnspecifiedMatching -OMIM:142780 HIST2H3C skos:exactMatch hgnc:H3C14 semapv:UnspecifiedMatching +OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:20503 semapv:UnspecifiedMatching +OMIM:142780 HIST2H3C skos:exactMatch hgnc.symbol:H3C14 semapv:UnspecifiedMatching OMIM:142780 HIST2H3C skos:exactMatch ncbigene:126961 semapv:UnspecifiedMatching -OMIM:142790 CD74 skos:exactMatch hgnc:CD74 semapv:UnspecifiedMatching +OMIM:142790 CD74 skos:exactMatch hgnc.symbol:1697 semapv:UnspecifiedMatching +OMIM:142790 CD74 skos:exactMatch hgnc.symbol:CD74 semapv:UnspecifiedMatching OMIM:142790 CD74 skos:exactMatch ncbigene:972 semapv:UnspecifiedMatching -OMIM:142800 HLA-A skos:exactMatch hgnc:HLA-A semapv:UnspecifiedMatching +OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:4931 semapv:UnspecifiedMatching +OMIM:142800 HLA-A skos:exactMatch hgnc.symbol:HLA-A semapv:UnspecifiedMatching OMIM:142800 HLA-A skos:exactMatch ncbigene:3105 semapv:UnspecifiedMatching -OMIM:142810 HARS1 skos:exactMatch hgnc:HARS1 semapv:UnspecifiedMatching +OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:4816 semapv:UnspecifiedMatching +OMIM:142810 HARS1 skos:exactMatch hgnc.symbol:HARS1 semapv:UnspecifiedMatching OMIM:142810 HARS1 skos:exactMatch ncbigene:3035 semapv:UnspecifiedMatching -OMIM:142830 HLA-B skos:exactMatch hgnc:HLA-B semapv:UnspecifiedMatching +OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:4932 semapv:UnspecifiedMatching +OMIM:142830 HLA-B skos:exactMatch hgnc.symbol:HLA-B semapv:UnspecifiedMatching OMIM:142830 HLA-B skos:exactMatch ncbigene:3106 semapv:UnspecifiedMatching -OMIM:142840 HLA-C skos:exactMatch hgnc:HLA-C semapv:UnspecifiedMatching +OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:4933 semapv:UnspecifiedMatching +OMIM:142840 HLA-C skos:exactMatch hgnc.symbol:HLA-C semapv:UnspecifiedMatching OMIM:142840 HLA-C skos:exactMatch ncbigene:3107 semapv:UnspecifiedMatching -OMIM:142855 HLA-DMA skos:exactMatch hgnc:HLA-DMA semapv:UnspecifiedMatching +OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:4934 semapv:UnspecifiedMatching +OMIM:142855 HLA-DMA skos:exactMatch hgnc.symbol:HLA-DMA semapv:UnspecifiedMatching OMIM:142855 HLA-DMA skos:exactMatch ncbigene:3108 semapv:UnspecifiedMatching -OMIM:142856 HLA-DMB skos:exactMatch hgnc:HLA-DMB semapv:UnspecifiedMatching +OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:4935 semapv:UnspecifiedMatching +OMIM:142856 HLA-DMB skos:exactMatch hgnc.symbol:HLA-DMB semapv:UnspecifiedMatching OMIM:142856 HLA-DMB skos:exactMatch ncbigene:3109 semapv:UnspecifiedMatching -OMIM:142857 HLA-DRB1 skos:exactMatch hgnc:HLA-DRB1 semapv:UnspecifiedMatching +OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:4948 semapv:UnspecifiedMatching +OMIM:142857 HLA-DRB1 skos:exactMatch hgnc.symbol:HLA-DRB1 semapv:UnspecifiedMatching OMIM:142857 HLA-DRB1 skos:exactMatch ncbigene:3123 semapv:UnspecifiedMatching -OMIM:142858 HLA-DPB1 skos:exactMatch hgnc:HLA-DPB1 semapv:UnspecifiedMatching +OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:4940 semapv:UnspecifiedMatching +OMIM:142858 HLA-DPB1 skos:exactMatch hgnc.symbol:HLA-DPB1 semapv:UnspecifiedMatching OMIM:142858 HLA-DPB1 skos:exactMatch ncbigene:3115 semapv:UnspecifiedMatching -OMIM:142860 HLA-DRA skos:exactMatch hgnc:HLA-DRA semapv:UnspecifiedMatching +OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:4947 semapv:UnspecifiedMatching +OMIM:142860 HLA-DRA skos:exactMatch hgnc.symbol:HLA-DRA semapv:UnspecifiedMatching OMIM:142860 HLA-DRA skos:exactMatch ncbigene:3122 semapv:UnspecifiedMatching -OMIM:142871 HLA-G skos:exactMatch hgnc:HLA-G semapv:UnspecifiedMatching +OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:4964 semapv:UnspecifiedMatching +OMIM:142871 HLA-G skos:exactMatch hgnc.symbol:HLA-G semapv:UnspecifiedMatching OMIM:142871 HLA-G skos:exactMatch ncbigene:3135 semapv:UnspecifiedMatching -OMIM:142880 HLA-DPA1 skos:exactMatch hgnc:HLA-DPA1 semapv:UnspecifiedMatching +OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:4938 semapv:UnspecifiedMatching +OMIM:142880 HLA-DPA1 skos:exactMatch hgnc.symbol:HLA-DPA1 semapv:UnspecifiedMatching OMIM:142880 HLA-DPA1 skos:exactMatch ncbigene:3113 semapv:UnspecifiedMatching -OMIM:142910 HMGCR skos:exactMatch hgnc:HMGCR semapv:UnspecifiedMatching +OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:5006 semapv:UnspecifiedMatching +OMIM:142910 HMGCR skos:exactMatch hgnc.symbol:HMGCR semapv:UnspecifiedMatching OMIM:142910 HMGCR skos:exactMatch ncbigene:3156 semapv:UnspecifiedMatching -OMIM:142930 HLA-DNA skos:exactMatch hgnc:HLA-DOA semapv:UnspecifiedMatching +OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:4936 semapv:UnspecifiedMatching +OMIM:142930 HLA-DNA skos:exactMatch hgnc.symbol:HLA-DOA semapv:UnspecifiedMatching OMIM:142930 HLA-DNA skos:exactMatch ncbigene:3111 semapv:UnspecifiedMatching -OMIM:142940 HMGCS1 skos:exactMatch hgnc:HMGCS1 semapv:UnspecifiedMatching +OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:5007 semapv:UnspecifiedMatching +OMIM:142940 HMGCS1 skos:exactMatch hgnc.symbol:HMGCS1 semapv:UnspecifiedMatching OMIM:142940 HMGCS1 skos:exactMatch ncbigene:3157 semapv:UnspecifiedMatching -OMIM:142950 HOXA7 skos:exactMatch hgnc:HOXA7 semapv:UnspecifiedMatching +OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:5108 semapv:UnspecifiedMatching +OMIM:142950 HOXA7 skos:exactMatch hgnc.symbol:HOXA7 semapv:UnspecifiedMatching OMIM:142950 HOXA7 skos:exactMatch ncbigene:3204 semapv:UnspecifiedMatching -OMIM:142951 HOXA6 skos:exactMatch hgnc:HOXA6 semapv:UnspecifiedMatching +OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:5107 semapv:UnspecifiedMatching +OMIM:142951 HOXA6 skos:exactMatch hgnc.symbol:HOXA6 semapv:UnspecifiedMatching OMIM:142951 HOXA6 skos:exactMatch ncbigene:3203 semapv:UnspecifiedMatching -OMIM:142952 HOXA5 skos:exactMatch hgnc:HOXA5 semapv:UnspecifiedMatching +OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:5106 semapv:UnspecifiedMatching +OMIM:142952 HOXA5 skos:exactMatch hgnc.symbol:HOXA5 semapv:UnspecifiedMatching OMIM:142952 HOXA5 skos:exactMatch ncbigene:3202 semapv:UnspecifiedMatching -OMIM:142953 HOXA4 skos:exactMatch hgnc:HOXA4 semapv:UnspecifiedMatching +OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:5105 semapv:UnspecifiedMatching +OMIM:142953 HOXA4 skos:exactMatch hgnc.symbol:HOXA4 semapv:UnspecifiedMatching OMIM:142953 HOXA4 skos:exactMatch ncbigene:3201 semapv:UnspecifiedMatching -OMIM:142954 HOXA3 skos:exactMatch hgnc:HOXA3 semapv:UnspecifiedMatching +OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:5104 semapv:UnspecifiedMatching +OMIM:142954 HOXA3 skos:exactMatch hgnc.symbol:HOXA3 semapv:UnspecifiedMatching OMIM:142954 HOXA3 skos:exactMatch ncbigene:3200 semapv:UnspecifiedMatching OMIM:142955 HOXA1 skos:exactMatch UMLS:C1415653 semapv:UnspecifiedMatching OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching OMIM:142955 HOXA1 skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching -OMIM:142955 HOXA1 skos:exactMatch hgnc:HOXA1 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:5099 semapv:UnspecifiedMatching +OMIM:142955 HOXA1 skos:exactMatch hgnc.symbol:HOXA1 semapv:UnspecifiedMatching OMIM:142955 HOXA1 skos:exactMatch ncbigene:3198 semapv:UnspecifiedMatching -OMIM:142956 HOXA9 skos:exactMatch hgnc:HOXA9 semapv:UnspecifiedMatching +OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:5109 semapv:UnspecifiedMatching +OMIM:142956 HOXA9 skos:exactMatch hgnc.symbol:HOXA9 semapv:UnspecifiedMatching OMIM:142956 HOXA9 skos:exactMatch ncbigene:3205 semapv:UnspecifiedMatching -OMIM:142957 HOXA10 skos:exactMatch hgnc:HOXA10 semapv:UnspecifiedMatching +OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:5100 semapv:UnspecifiedMatching +OMIM:142957 HOXA10 skos:exactMatch hgnc.symbol:HOXA10 semapv:UnspecifiedMatching OMIM:142957 HOXA10 skos:exactMatch ncbigene:3206 semapv:UnspecifiedMatching -OMIM:142958 HOXA11 skos:exactMatch hgnc:HOXA11 semapv:UnspecifiedMatching +OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:5101 semapv:UnspecifiedMatching +OMIM:142958 HOXA11 skos:exactMatch hgnc.symbol:HOXA11 semapv:UnspecifiedMatching OMIM:142958 HOXA11 skos:exactMatch ncbigene:3207 semapv:UnspecifiedMatching -OMIM:142959 HOXA13 skos:exactMatch hgnc:HOXA13 semapv:UnspecifiedMatching +OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:5102 semapv:UnspecifiedMatching +OMIM:142959 HOXA13 skos:exactMatch hgnc.symbol:HOXA13 semapv:UnspecifiedMatching OMIM:142959 HOXA13 skos:exactMatch ncbigene:3209 semapv:UnspecifiedMatching -OMIM:142960 HOXB5 skos:exactMatch hgnc:HOXB5 semapv:UnspecifiedMatching +OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:5116 semapv:UnspecifiedMatching +OMIM:142960 HOXB5 skos:exactMatch hgnc.symbol:HOXB5 semapv:UnspecifiedMatching OMIM:142960 HOXB5 skos:exactMatch ncbigene:3215 semapv:UnspecifiedMatching -OMIM:142961 HOXB6 skos:exactMatch hgnc:HOXB6 semapv:UnspecifiedMatching +OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:5117 semapv:UnspecifiedMatching +OMIM:142961 HOXB6 skos:exactMatch hgnc.symbol:HOXB6 semapv:UnspecifiedMatching OMIM:142961 HOXB6 skos:exactMatch ncbigene:3216 semapv:UnspecifiedMatching -OMIM:142962 HOXB7 skos:exactMatch hgnc:HOXB7 semapv:UnspecifiedMatching +OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:5118 semapv:UnspecifiedMatching +OMIM:142962 HOXB7 skos:exactMatch hgnc.symbol:HOXB7 semapv:UnspecifiedMatching OMIM:142962 HOXB7 skos:exactMatch ncbigene:3217 semapv:UnspecifiedMatching -OMIM:142963 HOXB8 skos:exactMatch hgnc:HOXB8 semapv:UnspecifiedMatching +OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:5119 semapv:UnspecifiedMatching +OMIM:142963 HOXB8 skos:exactMatch hgnc.symbol:HOXB8 semapv:UnspecifiedMatching OMIM:142963 HOXB8 skos:exactMatch ncbigene:3218 semapv:UnspecifiedMatching -OMIM:142964 HOXB9 skos:exactMatch hgnc:HOXB9 semapv:UnspecifiedMatching +OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:5120 semapv:UnspecifiedMatching +OMIM:142964 HOXB9 skos:exactMatch hgnc.symbol:HOXB9 semapv:UnspecifiedMatching OMIM:142964 HOXB9 skos:exactMatch ncbigene:3219 semapv:UnspecifiedMatching -OMIM:142965 HOXB4 skos:exactMatch hgnc:HOXB4 semapv:UnspecifiedMatching +OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:5115 semapv:UnspecifiedMatching +OMIM:142965 HOXB4 skos:exactMatch hgnc.symbol:HOXB4 semapv:UnspecifiedMatching OMIM:142965 HOXB4 skos:exactMatch ncbigene:3214 semapv:UnspecifiedMatching -OMIM:142966 HOXB3 skos:exactMatch hgnc:HOXB3 semapv:UnspecifiedMatching +OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:5114 semapv:UnspecifiedMatching +OMIM:142966 HOXB3 skos:exactMatch hgnc.symbol:HOXB3 semapv:UnspecifiedMatching OMIM:142966 HOXB3 skos:exactMatch ncbigene:3213 semapv:UnspecifiedMatching -OMIM:142967 HOXB2 skos:exactMatch hgnc:HOXB2 semapv:UnspecifiedMatching +OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:5113 semapv:UnspecifiedMatching +OMIM:142967 HOXB2 skos:exactMatch hgnc.symbol:HOXB2 semapv:UnspecifiedMatching OMIM:142967 HOXB2 skos:exactMatch ncbigene:3212 semapv:UnspecifiedMatching -OMIM:142968 HOXB1 skos:exactMatch hgnc:HOXB1 semapv:UnspecifiedMatching +OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:5111 semapv:UnspecifiedMatching +OMIM:142968 HOXB1 skos:exactMatch hgnc.symbol:HOXB1 semapv:UnspecifiedMatching OMIM:142968 HOXB1 skos:exactMatch ncbigene:3211 semapv:UnspecifiedMatching -OMIM:142970 HOXC8 skos:exactMatch hgnc:HOXC8 semapv:UnspecifiedMatching +OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:5129 semapv:UnspecifiedMatching +OMIM:142970 HOXC8 skos:exactMatch hgnc.symbol:HOXC8 semapv:UnspecifiedMatching OMIM:142970 HOXC8 skos:exactMatch ncbigene:3224 semapv:UnspecifiedMatching -OMIM:142971 HOXC9 skos:exactMatch hgnc:HOXC9 semapv:UnspecifiedMatching +OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:5130 semapv:UnspecifiedMatching +OMIM:142971 HOXC9 skos:exactMatch hgnc.symbol:HOXC9 semapv:UnspecifiedMatching OMIM:142971 HOXC9 skos:exactMatch ncbigene:3225 semapv:UnspecifiedMatching -OMIM:142972 HOXC6 skos:exactMatch hgnc:HOXC6 semapv:UnspecifiedMatching +OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:5128 semapv:UnspecifiedMatching +OMIM:142972 HOXC6 skos:exactMatch hgnc.symbol:HOXC6 semapv:UnspecifiedMatching OMIM:142972 HOXC6 skos:exactMatch ncbigene:3223 semapv:UnspecifiedMatching -OMIM:142973 HOXC5 skos:exactMatch hgnc:HOXC5 semapv:UnspecifiedMatching +OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:5127 semapv:UnspecifiedMatching +OMIM:142973 HOXC5 skos:exactMatch hgnc.symbol:HOXC5 semapv:UnspecifiedMatching OMIM:142973 HOXC5 skos:exactMatch ncbigene:3222 semapv:UnspecifiedMatching -OMIM:142974 HOXC4 skos:exactMatch hgnc:HOXC4 semapv:UnspecifiedMatching +OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:5126 semapv:UnspecifiedMatching +OMIM:142974 HOXC4 skos:exactMatch hgnc.symbol:HOXC4 semapv:UnspecifiedMatching OMIM:142974 HOXC4 skos:exactMatch ncbigene:3221 semapv:UnspecifiedMatching -OMIM:142975 HOXC12 skos:exactMatch hgnc:HOXC12 semapv:UnspecifiedMatching +OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:5124 semapv:UnspecifiedMatching +OMIM:142975 HOXC12 skos:exactMatch hgnc.symbol:HOXC12 semapv:UnspecifiedMatching OMIM:142975 HOXC12 skos:exactMatch ncbigene:3228 semapv:UnspecifiedMatching -OMIM:142976 HOXC13 skos:exactMatch hgnc:HOXC13 semapv:UnspecifiedMatching +OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:5125 semapv:UnspecifiedMatching +OMIM:142976 HOXC13 skos:exactMatch hgnc.symbol:HOXC13 semapv:UnspecifiedMatching OMIM:142976 HOXC13 skos:exactMatch ncbigene:3229 semapv:UnspecifiedMatching -OMIM:142980 HOXD3 skos:exactMatch hgnc:HOXD3 semapv:UnspecifiedMatching +OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:5137 semapv:UnspecifiedMatching +OMIM:142980 HOXD3 skos:exactMatch hgnc.symbol:HOXD3 semapv:UnspecifiedMatching OMIM:142980 HOXD3 skos:exactMatch ncbigene:3232 semapv:UnspecifiedMatching -OMIM:142981 HOXD4 skos:exactMatch hgnc:HOXD4 semapv:UnspecifiedMatching +OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:5138 semapv:UnspecifiedMatching +OMIM:142981 HOXD4 skos:exactMatch hgnc.symbol:HOXD4 semapv:UnspecifiedMatching OMIM:142981 HOXD4 skos:exactMatch ncbigene:3233 semapv:UnspecifiedMatching -OMIM:142982 HOXD9 skos:exactMatch hgnc:HOXD9 semapv:UnspecifiedMatching +OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:5140 semapv:UnspecifiedMatching +OMIM:142982 HOXD9 skos:exactMatch hgnc.symbol:HOXD9 semapv:UnspecifiedMatching OMIM:142982 HOXD9 skos:exactMatch ncbigene:3235 semapv:UnspecifiedMatching -OMIM:142983 MSX1 skos:exactMatch hgnc:MSX1 semapv:UnspecifiedMatching +OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:7391 semapv:UnspecifiedMatching +OMIM:142983 MSX1 skos:exactMatch hgnc.symbol:MSX1 semapv:UnspecifiedMatching OMIM:142983 MSX1 skos:exactMatch ncbigene:4487 semapv:UnspecifiedMatching -OMIM:142984 HOXD10 skos:exactMatch hgnc:HOXD10 semapv:UnspecifiedMatching +OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:5133 semapv:UnspecifiedMatching +OMIM:142984 HOXD10 skos:exactMatch hgnc.symbol:HOXD10 semapv:UnspecifiedMatching OMIM:142984 HOXD10 skos:exactMatch ncbigene:3236 semapv:UnspecifiedMatching -OMIM:142985 HOXD8 skos:exactMatch hgnc:HOXD8 semapv:UnspecifiedMatching +OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:5139 semapv:UnspecifiedMatching +OMIM:142985 HOXD8 skos:exactMatch hgnc.symbol:HOXD8 semapv:UnspecifiedMatching OMIM:142985 HOXD8 skos:exactMatch ncbigene:3234 semapv:UnspecifiedMatching -OMIM:142986 HOXD11 skos:exactMatch hgnc:HOXD11 semapv:UnspecifiedMatching +OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:5134 semapv:UnspecifiedMatching +OMIM:142986 HOXD11 skos:exactMatch hgnc.symbol:HOXD11 semapv:UnspecifiedMatching OMIM:142986 HOXD11 skos:exactMatch ncbigene:3237 semapv:UnspecifiedMatching -OMIM:142987 HOXD1 skos:exactMatch hgnc:HOXD1 semapv:UnspecifiedMatching +OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:5132 semapv:UnspecifiedMatching +OMIM:142987 HOXD1 skos:exactMatch hgnc.symbol:HOXD1 semapv:UnspecifiedMatching OMIM:142987 HOXD1 skos:exactMatch ncbigene:3231 semapv:UnspecifiedMatching -OMIM:142988 HOXD12 skos:exactMatch hgnc:HOXD12 semapv:UnspecifiedMatching +OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:5135 semapv:UnspecifiedMatching +OMIM:142988 HOXD12 skos:exactMatch hgnc.symbol:HOXD12 semapv:UnspecifiedMatching OMIM:142988 HOXD12 skos:exactMatch ncbigene:3238 semapv:UnspecifiedMatching -OMIM:142989 HOXD13 skos:exactMatch hgnc:HOXD13 semapv:UnspecifiedMatching +OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:5136 semapv:UnspecifiedMatching +OMIM:142989 HOXD13 skos:exactMatch hgnc.symbol:HOXD13 semapv:UnspecifiedMatching OMIM:142989 HOXD13 skos:exactMatch ncbigene:3239 semapv:UnspecifiedMatching -OMIM:142991 EVX2 skos:exactMatch hgnc:EVX2 semapv:UnspecifiedMatching +OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:3507 semapv:UnspecifiedMatching +OMIM:142991 EVX2 skos:exactMatch hgnc.symbol:EVX2 semapv:UnspecifiedMatching OMIM:142991 EVX2 skos:exactMatch ncbigene:344191 semapv:UnspecifiedMatching -OMIM:142992 HMX1 skos:exactMatch hgnc:HMX1 semapv:UnspecifiedMatching +OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:5017 semapv:UnspecifiedMatching +OMIM:142992 HMX1 skos:exactMatch hgnc.symbol:HMX1 semapv:UnspecifiedMatching OMIM:142992 HMX1 skos:exactMatch ncbigene:3166 semapv:UnspecifiedMatching -OMIM:142993 VSX2 skos:exactMatch hgnc:VSX2 semapv:UnspecifiedMatching +OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:1975 semapv:UnspecifiedMatching +OMIM:142993 VSX2 skos:exactMatch hgnc.symbol:VSX2 semapv:UnspecifiedMatching OMIM:142993 VSX2 skos:exactMatch ncbigene:338917 semapv:UnspecifiedMatching -OMIM:142994 MNX1 skos:exactMatch hgnc:MNX1 semapv:UnspecifiedMatching +OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:4979 semapv:UnspecifiedMatching +OMIM:142994 MNX1 skos:exactMatch hgnc.symbol:MNX1 semapv:UnspecifiedMatching OMIM:142994 MNX1 skos:exactMatch ncbigene:3110 semapv:UnspecifiedMatching -OMIM:142995 HLX skos:exactMatch hgnc:HLX semapv:UnspecifiedMatching +OMIM:142995 HLX skos:exactMatch hgnc.symbol:4978 semapv:UnspecifiedMatching +OMIM:142995 HLX skos:exactMatch hgnc.symbol:HLX semapv:UnspecifiedMatching OMIM:142995 HLX skos:exactMatch ncbigene:3142 semapv:UnspecifiedMatching -OMIM:142996 EVX1 skos:exactMatch hgnc:EVX1 semapv:UnspecifiedMatching +OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:3506 semapv:UnspecifiedMatching +OMIM:142996 EVX1 skos:exactMatch hgnc.symbol:EVX1 semapv:UnspecifiedMatching OMIM:142996 EVX1 skos:exactMatch ncbigene:2128 semapv:UnspecifiedMatching -OMIM:143010 HLA-E skos:exactMatch hgnc:HLA-E semapv:UnspecifiedMatching +OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:4962 semapv:UnspecifiedMatching +OMIM:143010 HLA-E skos:exactMatch hgnc.symbol:HLA-E semapv:UnspecifiedMatching OMIM:143010 HLA-E skos:exactMatch ncbigene:3133 semapv:UnspecifiedMatching -OMIM:143023 RASSF7 skos:exactMatch hgnc:RASSF7 semapv:UnspecifiedMatching +OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:1166 semapv:UnspecifiedMatching +OMIM:143023 RASSF7 skos:exactMatch hgnc.symbol:RASSF7 semapv:UnspecifiedMatching OMIM:143023 RASSF7 skos:exactMatch ncbigene:8045 semapv:UnspecifiedMatching -OMIM:143024 GNL1 skos:exactMatch hgnc:GNL1 semapv:UnspecifiedMatching +OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:4413 semapv:UnspecifiedMatching +OMIM:143024 GNL1 skos:exactMatch hgnc.symbol:GNL1 semapv:UnspecifiedMatching OMIM:143024 GNL1 skos:exactMatch ncbigene:2794 semapv:UnspecifiedMatching -OMIM:143025 HRES1 skos:exactMatch hgnc:HRES1 semapv:UnspecifiedMatching +OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:5180 semapv:UnspecifiedMatching +OMIM:143025 HRES1 skos:exactMatch hgnc.symbol:HRES1 semapv:UnspecifiedMatching OMIM:143025 HRES1 skos:exactMatch ncbigene:3272 semapv:UnspecifiedMatching OMIM:143030 CD9 skos:exactMatch UMLS:C1413246 semapv:UnspecifiedMatching -OMIM:143030 CD9 skos:exactMatch hgnc:CD9 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch hgnc.symbol:1709 semapv:UnspecifiedMatching +OMIM:143030 CD9 skos:exactMatch hgnc.symbol:CD9 semapv:UnspecifiedMatching OMIM:143030 CD9 skos:exactMatch ncbigene:928 semapv:UnspecifiedMatching -OMIM:143054 HIVEP2 skos:exactMatch hgnc:HIVEP2 semapv:UnspecifiedMatching +OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:4921 semapv:UnspecifiedMatching +OMIM:143054 HIVEP2 skos:exactMatch hgnc.symbol:HIVEP2 semapv:UnspecifiedMatching OMIM:143054 HIVEP2 skos:exactMatch ncbigene:3097 semapv:UnspecifiedMatching -OMIM:143055 CCNT1 skos:exactMatch hgnc:CCNT1 semapv:UnspecifiedMatching +OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:1599 semapv:UnspecifiedMatching +OMIM:143055 CCNT1 skos:exactMatch hgnc.symbol:CCNT1 semapv:UnspecifiedMatching OMIM:143055 CCNT1 skos:exactMatch ncbigene:904 semapv:UnspecifiedMatching -OMIM:143089 HTLF skos:exactMatch hgnc:FOXN2 semapv:UnspecifiedMatching -OMIM:143089 HTLF skos:exactMatch ncbigene:3344 semapv:UnspecifiedMatching +OMIM:143089 FOXN2 skos:exactMatch hgnc.symbol:5281 semapv:UnspecifiedMatching +OMIM:143089 FOXN2 skos:exactMatch hgnc.symbol:FOXN2 semapv:UnspecifiedMatching +OMIM:143089 FOXN2 skos:exactMatch ncbigene:3344 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch Orphanet:248111 semapv:UnspecifiedMatching +OMIM:143100 huntington disease skos:exactMatch Orphanet:399 semapv:UnspecifiedMatching OMIM:143100 huntington disease skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching -OMIM:143100 huntington disease skos:exactMatch orphanet.ordo:248111 semapv:UnspecifiedMatching -OMIM:143100 huntington disease skos:exactMatch orphanet.ordo:399 semapv:UnspecifiedMatching OMIM:143110 HLA-F skos:exactMatch UMLS:C1415586 semapv:UnspecifiedMatching -OMIM:143110 HLA-F skos:exactMatch hgnc:HLA-F semapv:UnspecifiedMatching +OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:4963 semapv:UnspecifiedMatching +OMIM:143110 HLA-F skos:exactMatch hgnc.symbol:HLA-F semapv:UnspecifiedMatching OMIM:143110 HLA-F skos:exactMatch ncbigene:3134 semapv:UnspecifiedMatching -OMIM:143170 MEA1 skos:exactMatch hgnc:MEA1 semapv:UnspecifiedMatching +OMIM:143170 MEA1 skos:exactMatch hgnc.symbol:6986 semapv:UnspecifiedMatching +OMIM:143170 MEA1 skos:exactMatch hgnc.symbol:MEA1 semapv:UnspecifiedMatching OMIM:143170 MEA1 skos:exactMatch ncbigene:4201 semapv:UnspecifiedMatching -OMIM:143450 HADHB skos:exactMatch hgnc:HADHB semapv:UnspecifiedMatching +OMIM:143450 HADHB skos:exactMatch hgnc.symbol:4803 semapv:UnspecifiedMatching +OMIM:143450 HADHB skos:exactMatch hgnc.symbol:HADHB semapv:UnspecifiedMatching OMIM:143450 HADHB skos:exactMatch ncbigene:3032 semapv:UnspecifiedMatching -OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc:HTOR semapv:UnspecifiedMatching +OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc.symbol:5285 semapv:UnspecifiedMatching +OMIM:143460 5-hydroxytryptamine oxygenase regulator skos:exactMatch hgnc.symbol:HTOR semapv:UnspecifiedMatching OMIM:143465 attention deficit-hyperactivity disorder skos:exactMatch UMLS:C1263846 semapv:UnspecifiedMatching +OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C0745103 semapv:UnspecifiedMatching OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch UMLS:C3276941 semapv:UnspecifiedMatching -OMIM:143890 hypercholesterolemia, familial, 1 skos:exactMatch orphanet.ordo:391665 semapv:UnspecifiedMatching +OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch Orphanet:391665 semapv:UnspecifiedMatching OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C1704417 semapv:UnspecifiedMatching OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch UMLS:C3888316 semapv:UnspecifiedMatching -OMIM:144010 hypercholesterolemia, familial, 2 skos:exactMatch orphanet.ordo:391665 semapv:UnspecifiedMatching +OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch Orphanet:422526 semapv:UnspecifiedMatching OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0007134 semapv:UnspecifiedMatching OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C0279702 semapv:UnspecifiedMatching OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch UMLS:C2750825 semapv:UnspecifiedMatching -OMIM:144700 renal cell carcinoma, nonpapillary skos:exactMatch orphanet.ordo:422526 semapv:UnspecifiedMatching +OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch Orphanet:2790 semapv:UnspecifiedMatching OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch UMLS:C0432273 semapv:UnspecifiedMatching -OMIM:144750 endosteal hyperostosis, autosomal dominant skos:exactMatch orphanet.ordo:2790 semapv:UnspecifiedMatching +OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch Orphanet:1519 semapv:UnspecifiedMatching OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch UMLS:C0796179 semapv:UnspecifiedMatching -OMIM:145420 teebi hypertelorism syndrome 1 skos:exactMatch orphanet.ordo:1519 semapv:UnspecifiedMatching -OMIM:145505 ACSM3 skos:exactMatch hgnc:ACSM3 semapv:UnspecifiedMatching +OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:10522 semapv:UnspecifiedMatching +OMIM:145505 ACSM3 skos:exactMatch hgnc.symbol:ACSM3 semapv:UnspecifiedMatching OMIM:145505 ACSM3 skos:exactMatch ncbigene:6296 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:165994 semapv:UnspecifiedMatching +OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch Orphanet:566243 semapv:UnspecifiedMatching OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch UMLS:C1840364 semapv:UnspecifiedMatching -OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch orphanet.ordo:165994 semapv:UnspecifiedMatching -OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch orphanet.ordo:566243 semapv:UnspecifiedMatching +OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch Orphanet:64748 semapv:UnspecifiedMatching OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch UMLS:C0011195 semapv:UnspecifiedMatching -OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch orphanet.ordo:64748 semapv:UnspecifiedMatching +OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching +OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch Orphanet:93372 semapv:UnspecifiedMatching OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch UMLS:C0342637 semapv:UnspecifiedMatching -OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch orphanet.ordo:405 semapv:UnspecifiedMatching -OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 skos:exactMatch orphanet.ordo:93372 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:101049 semapv:UnspecifiedMatching +OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch Orphanet:405 semapv:UnspecifiedMatching OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch UMLS:C1840347 semapv:UnspecifiedMatching -OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch orphanet.ordo:101049 semapv:UnspecifiedMatching -OMIM:145981 hypocalciuric hypercalcemia, familial, iia 2 skos:exactMatch orphanet.ordo:405 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:189466 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch Orphanet:2239 semapv:UnspecifiedMatching OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch orphanet.ordo:189466 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch orphanet.ordo:2238 semapv:UnspecifiedMatching -OMIM:146200 hypoparathyroidism, familial isolated, 1 skos:exactMatch orphanet.ordo:2239 semapv:UnspecifiedMatching +OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch Orphanet:2237 semapv:UnspecifiedMatching OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch UMLS:C1840333 semapv:UnspecifiedMatching -OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome skos:exactMatch orphanet.ordo:2237 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247676 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247685 semapv:UnspecifiedMatching +OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching OMIM:146300 hypophosphatasia, adult skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch orphanet.ordo:247676 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch orphanet.ordo:247685 semapv:UnspecifiedMatching -OMIM:146300 hypophosphatasia, adult skos:exactMatch orphanet.ordo:436 semapv:UnspecifiedMatching +OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching -OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch orphanet.ordo:102 semapv:UnspecifiedMatching +OMIM:146550 hypotrichosis 4 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching OMIM:146550 hypotrichosis 4 skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching -OMIM:146550 hypotrichosis 4 skos:exactMatch orphanet.ordo:444 semapv:UnspecifiedMatching -OMIM:146630 ICAM2 skos:exactMatch hgnc:ICAM2 semapv:UnspecifiedMatching +OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:5345 semapv:UnspecifiedMatching +OMIM:146630 ICAM2 skos:exactMatch hgnc.symbol:ICAM2 semapv:UnspecifiedMatching OMIM:146630 ICAM2 skos:exactMatch ncbigene:3384 semapv:UnspecifiedMatching -OMIM:146631 ICAM3 skos:exactMatch hgnc:ICAM3 semapv:UnspecifiedMatching +OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:5346 semapv:UnspecifiedMatching +OMIM:146631 ICAM3 skos:exactMatch hgnc.symbol:ICAM3 semapv:UnspecifiedMatching OMIM:146631 ICAM3 skos:exactMatch ncbigene:3385 semapv:UnspecifiedMatching -OMIM:146640 ITIH2 skos:exactMatch hgnc:ITIH2 semapv:UnspecifiedMatching +OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:6167 semapv:UnspecifiedMatching +OMIM:146640 ITIH2 skos:exactMatch hgnc.symbol:ITIH2 semapv:UnspecifiedMatching OMIM:146640 ITIH2 skos:exactMatch ncbigene:3698 semapv:UnspecifiedMatching -OMIM:146650 ITIH3 skos:exactMatch hgnc:ITIH3 semapv:UnspecifiedMatching +OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:6168 semapv:UnspecifiedMatching +OMIM:146650 ITIH3 skos:exactMatch hgnc.symbol:ITIH3 semapv:UnspecifiedMatching OMIM:146650 ITIH3 skos:exactMatch ncbigene:3699 semapv:UnspecifiedMatching -OMIM:146660 IL7 skos:exactMatch hgnc:IL7 semapv:UnspecifiedMatching +OMIM:146660 IL7 skos:exactMatch hgnc.symbol:6023 semapv:UnspecifiedMatching +OMIM:146660 IL7 skos:exactMatch hgnc.symbol:IL7 semapv:UnspecifiedMatching OMIM:146660 IL7 skos:exactMatch ncbigene:3574 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch UMLS:C1334123 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch UMLS:C1837028 semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:146661 IL7R skos:exactMatch hgnc:IL7R semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch hgnc.symbol:6024 semapv:UnspecifiedMatching +OMIM:146661 IL7R skos:exactMatch hgnc.symbol:IL7R semapv:UnspecifiedMatching OMIM:146661 IL7R skos:exactMatch ncbigene:3575 semapv:UnspecifiedMatching OMIM:146680 IDE skos:exactMatch UMLS:C1415875 semapv:UnspecifiedMatching -OMIM:146680 IDE skos:exactMatch hgnc:IDE semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch hgnc.symbol:5381 semapv:UnspecifiedMatching +OMIM:146680 IDE skos:exactMatch hgnc.symbol:IDE semapv:UnspecifiedMatching OMIM:146680 IDE skos:exactMatch ncbigene:3416 semapv:UnspecifiedMatching -OMIM:146690 IMPDH1 skos:exactMatch hgnc:IMPDH1 semapv:UnspecifiedMatching +OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:6052 semapv:UnspecifiedMatching +OMIM:146690 IMPDH1 skos:exactMatch hgnc.symbol:IMPDH1 semapv:UnspecifiedMatching OMIM:146690 IMPDH1 skos:exactMatch ncbigene:3614 semapv:UnspecifiedMatching -OMIM:146691 IMPDH2 skos:exactMatch hgnc:IMPDH2 semapv:UnspecifiedMatching +OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:6053 semapv:UnspecifiedMatching +OMIM:146691 IMPDH2 skos:exactMatch hgnc.symbol:IMPDH2 semapv:UnspecifiedMatching OMIM:146691 IMPDH2 skos:exactMatch ncbigene:3615 semapv:UnspecifiedMatching OMIM:146700 ichthyosis vulgaris skos:exactMatch UMLS:C0079584 semapv:UnspecifiedMatching -OMIM:146710 IL2RB skos:exactMatch hgnc:IL2RB semapv:UnspecifiedMatching +OMIM:146710 IL2RB skos:exactMatch hgnc.symbol:6009 semapv:UnspecifiedMatching +OMIM:146710 IL2RB skos:exactMatch hgnc.symbol:IL2RB semapv:UnspecifiedMatching OMIM:146710 IL2RB skos:exactMatch ncbigene:3560 semapv:UnspecifiedMatching -OMIM:146730 IGFBP1 skos:exactMatch hgnc:IGFBP1 semapv:UnspecifiedMatching +OMIM:146730 IGFBP1 skos:exactMatch hgnc.symbol:5469 semapv:UnspecifiedMatching +OMIM:146730 IGFBP1 skos:exactMatch hgnc.symbol:IGFBP1 semapv:UnspecifiedMatching OMIM:146730 IGFBP1 skos:exactMatch ncbigene:3484 semapv:UnspecifiedMatching -OMIM:146731 IGFBP2 skos:exactMatch hgnc:IGFBP2 semapv:UnspecifiedMatching +OMIM:146731 IGFBP2 skos:exactMatch hgnc.symbol:5471 semapv:UnspecifiedMatching +OMIM:146731 IGFBP2 skos:exactMatch hgnc.symbol:IGFBP2 semapv:UnspecifiedMatching OMIM:146731 IGFBP2 skos:exactMatch ncbigene:3485 semapv:UnspecifiedMatching -OMIM:146732 IGFBP3 skos:exactMatch hgnc:IGFBP3 semapv:UnspecifiedMatching +OMIM:146732 IGFBP3 skos:exactMatch hgnc.symbol:5472 semapv:UnspecifiedMatching +OMIM:146732 IGFBP3 skos:exactMatch hgnc.symbol:IGFBP3 semapv:UnspecifiedMatching OMIM:146732 IGFBP3 skos:exactMatch ncbigene:3486 semapv:UnspecifiedMatching -OMIM:146733 IGFBP4 skos:exactMatch hgnc:IGFBP4 semapv:UnspecifiedMatching +OMIM:146733 IGFBP4 skos:exactMatch hgnc.symbol:5473 semapv:UnspecifiedMatching +OMIM:146733 IGFBP4 skos:exactMatch hgnc.symbol:IGFBP4 semapv:UnspecifiedMatching OMIM:146733 IGFBP4 skos:exactMatch ncbigene:3487 semapv:UnspecifiedMatching -OMIM:146734 IGFBP5 skos:exactMatch hgnc:IGFBP5 semapv:UnspecifiedMatching +OMIM:146734 IGFBP5 skos:exactMatch hgnc.symbol:5474 semapv:UnspecifiedMatching +OMIM:146734 IGFBP5 skos:exactMatch hgnc.symbol:IGFBP5 semapv:UnspecifiedMatching OMIM:146734 IGFBP5 skos:exactMatch ncbigene:3488 semapv:UnspecifiedMatching -OMIM:146735 IGFBP6 skos:exactMatch hgnc:IGFBP6 semapv:UnspecifiedMatching +OMIM:146735 IGFBP6 skos:exactMatch hgnc.symbol:5475 semapv:UnspecifiedMatching +OMIM:146735 IGFBP6 skos:exactMatch hgnc.symbol:IGFBP6 semapv:UnspecifiedMatching OMIM:146735 IGFBP6 skos:exactMatch ncbigene:3489 semapv:UnspecifiedMatching -OMIM:146738 INSL3 skos:exactMatch hgnc:INSL3 semapv:UnspecifiedMatching +OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:6086 semapv:UnspecifiedMatching +OMIM:146738 INSL3 skos:exactMatch hgnc.symbol:INSL3 semapv:UnspecifiedMatching OMIM:146738 INSL3 skos:exactMatch ncbigene:3640 semapv:UnspecifiedMatching OMIM:146740 FCGR3A skos:exactMatch UMLS:C1414555 semapv:UnspecifiedMatching OMIM:146740 FCGR3A skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching -OMIM:146740 FCGR3A skos:exactMatch hgnc:FCGR3A semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:3619 semapv:UnspecifiedMatching +OMIM:146740 FCGR3A skos:exactMatch hgnc.symbol:FCGR3A semapv:UnspecifiedMatching OMIM:146740 FCGR3A skos:exactMatch ncbigene:2214 semapv:UnspecifiedMatching +OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch Orphanet:313 semapv:UnspecifiedMatching OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching -OMIM:146750 ichthyosis, lamellar, autosomal dominant skos:exactMatch orphanet.ordo:313 semapv:UnspecifiedMatching OMIM:146760 FCGR1A skos:exactMatch UMLS:C1414550 semapv:UnspecifiedMatching OMIM:146760 FCGR1A skos:exactMatch UMLS:C4016211 semapv:UnspecifiedMatching OMIM:146760 FCGR1A skos:exactMatch UMLS:C4017539 semapv:UnspecifiedMatching -OMIM:146760 FCGR1A skos:exactMatch hgnc:FCGR1A semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch hgnc.symbol:3613 semapv:UnspecifiedMatching +OMIM:146760 FCGR1A skos:exactMatch hgnc.symbol:FCGR1A semapv:UnspecifiedMatching OMIM:146760 FCGR1A skos:exactMatch ncbigene:2209 semapv:UnspecifiedMatching -OMIM:146770 IGLL1 skos:exactMatch hgnc:IGLL1 semapv:UnspecifiedMatching +OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:5870 semapv:UnspecifiedMatching +OMIM:146770 IGLL1 skos:exactMatch hgnc.symbol:IGLL1 semapv:UnspecifiedMatching OMIM:146770 IGLL1 skos:exactMatch ncbigene:3543 semapv:UnspecifiedMatching -OMIM:146780 IGKDEL skos:exactMatch hgnc:IGKDEL semapv:UnspecifiedMatching +OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:5717 semapv:UnspecifiedMatching +OMIM:146780 IGKDEL skos:exactMatch hgnc.symbol:IGKDEL semapv:UnspecifiedMatching OMIM:146780 IGKDEL skos:exactMatch ncbigene:3515 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C1414553 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C1840270 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C1970029 semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch UMLS:C4016213 semapv:UnspecifiedMatching -OMIM:146790 FCGR2A skos:exactMatch hgnc:FCGR2A semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:3616 semapv:UnspecifiedMatching +OMIM:146790 FCGR2A skos:exactMatch hgnc.symbol:FCGR2A semapv:UnspecifiedMatching OMIM:146790 FCGR2A skos:exactMatch ncbigene:2212 semapv:UnspecifiedMatching +OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching -OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch orphanet.ordo:455 semapv:UnspecifiedMatching -OMIM:146880 HLA-DQA1 skos:exactMatch hgnc:HLA-DQA1 semapv:UnspecifiedMatching +OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:4942 semapv:UnspecifiedMatching +OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:HLA-DQA1 semapv:UnspecifiedMatching OMIM:146880 HLA-DQA1 skos:exactMatch ncbigene:3117 semapv:UnspecifiedMatching -OMIM:146900 IGHA1 skos:exactMatch hgnc:IGHA1 semapv:UnspecifiedMatching +OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:5478 semapv:UnspecifiedMatching +OMIM:146900 IGHA1 skos:exactMatch hgnc.symbol:IGHA1 semapv:UnspecifiedMatching OMIM:146900 IGHA1 skos:exactMatch ncbigene:3493 semapv:UnspecifiedMatching -OMIM:146910 IGHD@ skos:exactMatch hgnc:IGH semapv:UnspecifiedMatching +OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching +OMIM:146910 IGHD@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:146910 IGHD@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching -OMIM:146920 ADAR skos:exactMatch hgnc:ADAR semapv:UnspecifiedMatching +OMIM:146920 ADAR skos:exactMatch hgnc.symbol:225 semapv:UnspecifiedMatching +OMIM:146920 ADAR skos:exactMatch hgnc.symbol:ADAR semapv:UnspecifiedMatching OMIM:146920 ADAR skos:exactMatch ncbigene:103 semapv:UnspecifiedMatching -OMIM:146928 CXCR2 skos:exactMatch hgnc:CXCR2 semapv:UnspecifiedMatching +OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:6027 semapv:UnspecifiedMatching +OMIM:146928 CXCR2 skos:exactMatch hgnc.symbol:CXCR2 semapv:UnspecifiedMatching OMIM:146928 CXCR2 skos:exactMatch ncbigene:3579 semapv:UnspecifiedMatching -OMIM:146929 CXCR1 skos:exactMatch hgnc:CXCR1 semapv:UnspecifiedMatching +OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:6026 semapv:UnspecifiedMatching +OMIM:146929 CXCR1 skos:exactMatch hgnc.symbol:CXCR1 semapv:UnspecifiedMatching OMIM:146929 CXCR1 skos:exactMatch ncbigene:3577 semapv:UnspecifiedMatching -OMIM:146930 CXCL8 skos:exactMatch hgnc:CXCL8 semapv:UnspecifiedMatching +OMIM:146930 CXCL8 skos:exactMatch hgnc.symbol:6025 semapv:UnspecifiedMatching +OMIM:146930 CXCL8 skos:exactMatch hgnc.symbol:CXCL8 semapv:UnspecifiedMatching OMIM:146930 CXCL8 skos:exactMatch ncbigene:3576 semapv:UnspecifiedMatching OMIM:146931 IL9 skos:exactMatch UMLS:C1334127 semapv:UnspecifiedMatching -OMIM:146931 IL9 skos:exactMatch hgnc:IL9 semapv:UnspecifiedMatching +OMIM:146931 IL9 skos:exactMatch hgnc.symbol:6029 semapv:UnspecifiedMatching +OMIM:146931 IL9 skos:exactMatch hgnc.symbol:IL9 semapv:UnspecifiedMatching OMIM:146931 IL9 skos:exactMatch ncbigene:3578 semapv:UnspecifiedMatching -OMIM:146933 IL10RA skos:exactMatch hgnc:IL10RA semapv:UnspecifiedMatching +OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:5964 semapv:UnspecifiedMatching +OMIM:146933 IL10RA skos:exactMatch hgnc.symbol:IL10RA semapv:UnspecifiedMatching OMIM:146933 IL10RA skos:exactMatch ncbigene:3587 semapv:UnspecifiedMatching OMIM:146970 IGKJ@ skos:exactMatch ncbigene:7842 semapv:UnspecifiedMatching OMIM:146980 IGKV@ skos:exactMatch ncbigene:3519 semapv:UnspecifiedMatching -OMIM:147000 IGHA2 skos:exactMatch hgnc:IGHA2 semapv:UnspecifiedMatching +OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:5479 semapv:UnspecifiedMatching +OMIM:147000 IGHA2 skos:exactMatch hgnc.symbol:IGHA2 semapv:UnspecifiedMatching OMIM:147000 IGHA2 skos:exactMatch ncbigene:3494 semapv:UnspecifiedMatching -OMIM:147010 IGHJ@ skos:exactMatch hgnc:IGH semapv:UnspecifiedMatching +OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching +OMIM:147010 IGHJ@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:147010 IGHJ@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching -OMIM:147020 IGHM skos:exactMatch hgnc:IGHM semapv:UnspecifiedMatching +OMIM:147020 IGHM skos:exactMatch hgnc.symbol:5541 semapv:UnspecifiedMatching +OMIM:147020 IGHM skos:exactMatch hgnc.symbol:IGHM semapv:UnspecifiedMatching OMIM:147020 IGHM skos:exactMatch ncbigene:3507 semapv:UnspecifiedMatching -OMIM:147040 IFIT2 skos:exactMatch hgnc:IFIT2 semapv:UnspecifiedMatching +OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:5409 semapv:UnspecifiedMatching +OMIM:147040 IFIT2 skos:exactMatch hgnc.symbol:IFIT2 semapv:UnspecifiedMatching OMIM:147040 IFIT2 skos:exactMatch ncbigene:3433 semapv:UnspecifiedMatching -OMIM:147045 FCAR skos:exactMatch hgnc:FCAR semapv:UnspecifiedMatching +OMIM:147045 FCAR skos:exactMatch hgnc.symbol:3608 semapv:UnspecifiedMatching +OMIM:147045 FCAR skos:exactMatch hgnc.symbol:FCAR semapv:UnspecifiedMatching OMIM:147045 FCAR skos:exactMatch ncbigene:2204 semapv:UnspecifiedMatching +OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch Orphanet:2314 semapv:UnspecifiedMatching OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C2936739 semapv:UnspecifiedMatching OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C3887645 semapv:UnspecifiedMatching OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching -OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch orphanet.ordo:2314 semapv:UnspecifiedMatching -OMIM:147070 IGHV@ skos:exactMatch hgnc:IGH semapv:UnspecifiedMatching +OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching +OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:147070 IGHV@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch UMLS:C1415978 semapv:UnspecifiedMatching -OMIM:147100 IGHG1 skos:exactMatch hgnc:IGHG1 semapv:UnspecifiedMatching +OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:5525 semapv:UnspecifiedMatching +OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:IGHG1 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch ncbigene:3500 semapv:UnspecifiedMatching -OMIM:147110 IGHG2 skos:exactMatch hgnc:IGHG2 semapv:UnspecifiedMatching +OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:5526 semapv:UnspecifiedMatching +OMIM:147110 IGHG2 skos:exactMatch hgnc.symbol:IGHG2 semapv:UnspecifiedMatching OMIM:147110 IGHG2 skos:exactMatch ncbigene:3501 semapv:UnspecifiedMatching -OMIM:147120 IGHG3 skos:exactMatch hgnc:IGHG3 semapv:UnspecifiedMatching +OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:5527 semapv:UnspecifiedMatching +OMIM:147120 IGHG3 skos:exactMatch hgnc.symbol:IGHG3 semapv:UnspecifiedMatching OMIM:147120 IGHG3 skos:exactMatch ncbigene:3502 semapv:UnspecifiedMatching -OMIM:147130 IGHG4 skos:exactMatch hgnc:IGHG4 semapv:UnspecifiedMatching +OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:5528 semapv:UnspecifiedMatching +OMIM:147130 IGHG4 skos:exactMatch hgnc.symbol:IGHG4 semapv:UnspecifiedMatching OMIM:147130 IGHG4 skos:exactMatch ncbigene:3503 semapv:UnspecifiedMatching -OMIM:147138 MS4A2 skos:exactMatch hgnc:MS4A2 semapv:UnspecifiedMatching +OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:7316 semapv:UnspecifiedMatching +OMIM:147138 MS4A2 skos:exactMatch hgnc.symbol:MS4A2 semapv:UnspecifiedMatching OMIM:147138 MS4A2 skos:exactMatch ncbigene:2206 semapv:UnspecifiedMatching -OMIM:147139 FCER1G skos:exactMatch hgnc:FCER1G semapv:UnspecifiedMatching +OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:3611 semapv:UnspecifiedMatching +OMIM:147139 FCER1G skos:exactMatch hgnc.symbol:FCER1G semapv:UnspecifiedMatching OMIM:147139 FCER1G skos:exactMatch ncbigene:2207 semapv:UnspecifiedMatching -OMIM:147140 FCER1A skos:exactMatch hgnc:FCER1A semapv:UnspecifiedMatching +OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:3609 semapv:UnspecifiedMatching +OMIM:147140 FCER1A skos:exactMatch hgnc.symbol:FCER1A semapv:UnspecifiedMatching OMIM:147140 FCER1A skos:exactMatch ncbigene:2205 semapv:UnspecifiedMatching -OMIM:147141 TCF3 skos:exactMatch hgnc:TCF3 semapv:UnspecifiedMatching +OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:11633 semapv:UnspecifiedMatching +OMIM:147141 TCF3 skos:exactMatch hgnc.symbol:TCF3 semapv:UnspecifiedMatching OMIM:147141 TCF3 skos:exactMatch ncbigene:6929 semapv:UnspecifiedMatching -OMIM:147150 MX1 skos:exactMatch hgnc:MX1 semapv:UnspecifiedMatching +OMIM:147150 MX1 skos:exactMatch hgnc.symbol:7532 semapv:UnspecifiedMatching +OMIM:147150 MX1 skos:exactMatch hgnc.symbol:MX1 semapv:UnspecifiedMatching OMIM:147150 MX1 skos:exactMatch ncbigene:4599 semapv:UnspecifiedMatching -OMIM:147170 IGHD skos:exactMatch hgnc:IGHD semapv:UnspecifiedMatching +OMIM:147170 IGHD skos:exactMatch hgnc.symbol:5480 semapv:UnspecifiedMatching +OMIM:147170 IGHD skos:exactMatch hgnc.symbol:IGHD semapv:UnspecifiedMatching OMIM:147170 IGHD skos:exactMatch ncbigene:3495 semapv:UnspecifiedMatching -OMIM:147180 IGHE skos:exactMatch hgnc:IGHE semapv:UnspecifiedMatching +OMIM:147180 IGHE skos:exactMatch hgnc.symbol:5522 semapv:UnspecifiedMatching +OMIM:147180 IGHE skos:exactMatch hgnc.symbol:IGHE semapv:UnspecifiedMatching OMIM:147180 IGHE skos:exactMatch ncbigene:3497 semapv:UnspecifiedMatching OMIM:147183 RBPJ skos:exactMatch UMLS:C1416171 semapv:UnspecifiedMatching OMIM:147183 RBPJ skos:exactMatch UMLS:C3553748 semapv:UnspecifiedMatching -OMIM:147183 RBPJ skos:exactMatch hgnc:RBPJ semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:5724 semapv:UnspecifiedMatching +OMIM:147183 RBPJ skos:exactMatch hgnc.symbol:RBPJ semapv:UnspecifiedMatching OMIM:147183 RBPJ skos:exactMatch ncbigene:3516 semapv:UnspecifiedMatching -OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc:IGKV1OR2-108 semapv:UnspecifiedMatching +OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:5767 semapv:UnspecifiedMatching +OMIM:147185 IGKV1OR2108 skos:exactMatch hgnc.symbol:IGKV1OR2-108 semapv:UnspecifiedMatching OMIM:147185 IGKV1OR2108 skos:exactMatch ncbigene:28862 semapv:UnspecifiedMatching -OMIM:147200 IGKC skos:exactMatch hgnc:IGKC semapv:UnspecifiedMatching +OMIM:147200 IGKC skos:exactMatch hgnc.symbol:5716 semapv:UnspecifiedMatching +OMIM:147200 IGKC skos:exactMatch hgnc.symbol:IGKC semapv:UnspecifiedMatching OMIM:147200 IGKC skos:exactMatch ncbigene:3514 semapv:UnspecifiedMatching -OMIM:147220 IGLC1 skos:exactMatch hgnc:IGLC1 semapv:UnspecifiedMatching +OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:5855 semapv:UnspecifiedMatching +OMIM:147220 IGLC1 skos:exactMatch hgnc.symbol:IGLC1 semapv:UnspecifiedMatching OMIM:147220 IGLC1 skos:exactMatch ncbigene:3537 semapv:UnspecifiedMatching OMIM:147230 IGLJ@ skos:exactMatch ncbigene:8217 semapv:UnspecifiedMatching OMIM:147240 IGLV@ skos:exactMatch ncbigene:3546 semapv:UnspecifiedMatching -OMIM:147245 CD79B skos:exactMatch hgnc:CD79B semapv:UnspecifiedMatching +OMIM:147245 CD79B skos:exactMatch hgnc.symbol:1699 semapv:UnspecifiedMatching +OMIM:147245 CD79B skos:exactMatch hgnc.symbol:CD79B semapv:UnspecifiedMatching OMIM:147245 CD79B skos:exactMatch ncbigene:974 semapv:UnspecifiedMatching -OMIM:147263 INPP1 skos:exactMatch hgnc:INPP1 semapv:UnspecifiedMatching +OMIM:147263 INPP1 skos:exactMatch hgnc.symbol:6071 semapv:UnspecifiedMatching +OMIM:147263 INPP1 skos:exactMatch hgnc.symbol:INPP1 semapv:UnspecifiedMatching OMIM:147263 INPP1 skos:exactMatch ncbigene:3628 semapv:UnspecifiedMatching -OMIM:147264 INPP5B skos:exactMatch hgnc:INPP5B semapv:UnspecifiedMatching +OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:6077 semapv:UnspecifiedMatching +OMIM:147264 INPP5B skos:exactMatch hgnc.symbol:INPP5B semapv:UnspecifiedMatching OMIM:147264 INPP5B skos:exactMatch ncbigene:3633 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch UMLS:C0431401 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch UMLS:C1334148 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch UMLS:C1847725 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch UMLS:C1861732 semapv:UnspecifiedMatching -OMIM:147265 ITPR1 skos:exactMatch hgnc:ITPR1 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:6180 semapv:UnspecifiedMatching +OMIM:147265 ITPR1 skos:exactMatch hgnc.symbol:ITPR1 semapv:UnspecifiedMatching OMIM:147265 ITPR1 skos:exactMatch ncbigene:3708 semapv:UnspecifiedMatching -OMIM:147267 ITPR3 skos:exactMatch hgnc:ITPR3 semapv:UnspecifiedMatching +OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:6182 semapv:UnspecifiedMatching +OMIM:147267 ITPR3 skos:exactMatch hgnc.symbol:ITPR3 semapv:UnspecifiedMatching OMIM:147267 ITPR3 skos:exactMatch ncbigene:3710 semapv:UnspecifiedMatching -OMIM:147270 ITIH1 skos:exactMatch hgnc:ITIH1 semapv:UnspecifiedMatching +OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:6166 semapv:UnspecifiedMatching +OMIM:147270 ITIH1 skos:exactMatch hgnc.symbol:ITIH1 semapv:UnspecifiedMatching OMIM:147270 ITIH1 skos:exactMatch ncbigene:3697 semapv:UnspecifiedMatching -OMIM:147280 IGF2R skos:exactMatch hgnc:IGF2R semapv:UnspecifiedMatching +OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:5467 semapv:UnspecifiedMatching +OMIM:147280 IGF2R skos:exactMatch hgnc.symbol:IGF2R semapv:UnspecifiedMatching OMIM:147280 IGF2R skos:exactMatch ncbigene:3482 semapv:UnspecifiedMatching -OMIM:147290 INHBA skos:exactMatch hgnc:INHBA semapv:UnspecifiedMatching +OMIM:147290 INHBA skos:exactMatch hgnc.symbol:6066 semapv:UnspecifiedMatching +OMIM:147290 INHBA skos:exactMatch hgnc.symbol:INHBA semapv:UnspecifiedMatching OMIM:147290 INHBA skos:exactMatch ncbigene:3624 semapv:UnspecifiedMatching -OMIM:147310 CXCL10 skos:exactMatch hgnc:CXCL10 semapv:UnspecifiedMatching +OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:10637 semapv:UnspecifiedMatching +OMIM:147310 CXCL10 skos:exactMatch hgnc.symbol:CXCL10 semapv:UnspecifiedMatching OMIM:147310 CXCL10 skos:exactMatch ncbigene:3627 semapv:UnspecifiedMatching -OMIM:147360 IVL skos:exactMatch hgnc:IVL semapv:UnspecifiedMatching +OMIM:147360 IVL skos:exactMatch hgnc.symbol:6187 semapv:UnspecifiedMatching +OMIM:147360 IVL skos:exactMatch hgnc.symbol:IVL semapv:UnspecifiedMatching OMIM:147360 IVL skos:exactMatch ncbigene:3713 semapv:UnspecifiedMatching OMIM:147370 IGF1R skos:exactMatch UMLS:C1334088 semapv:UnspecifiedMatching OMIM:147370 IGF1R skos:exactMatch UMLS:C1849157 semapv:UnspecifiedMatching -OMIM:147370 IGF1R skos:exactMatch hgnc:IGF1R semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:5465 semapv:UnspecifiedMatching +OMIM:147370 IGF1R skos:exactMatch hgnc.symbol:IGF1R semapv:UnspecifiedMatching OMIM:147370 IGF1R skos:exactMatch ncbigene:3480 semapv:UnspecifiedMatching -OMIM:147380 INHA skos:exactMatch hgnc:INHA semapv:UnspecifiedMatching +OMIM:147380 INHA skos:exactMatch hgnc.symbol:6065 semapv:UnspecifiedMatching +OMIM:147380 INHA skos:exactMatch hgnc.symbol:INHA semapv:UnspecifiedMatching OMIM:147380 INHA skos:exactMatch ncbigene:3623 semapv:UnspecifiedMatching -OMIM:147390 INHBB skos:exactMatch hgnc:INHBB semapv:UnspecifiedMatching +OMIM:147390 INHBB skos:exactMatch hgnc.symbol:6067 semapv:UnspecifiedMatching +OMIM:147390 INHBB skos:exactMatch hgnc.symbol:INHBB semapv:UnspecifiedMatching OMIM:147390 INHBB skos:exactMatch ncbigene:3625 semapv:UnspecifiedMatching OMIM:147430 marsili syndrome skos:exactMatch UMLS:C1840219 semapv:UnspecifiedMatching OMIM:147430 marsili syndrome skos:exactMatch UMLS:C4538468 semapv:UnspecifiedMatching -OMIM:147435 IDO1 skos:exactMatch hgnc:IDO1 semapv:UnspecifiedMatching +OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:6059 semapv:UnspecifiedMatching +OMIM:147435 IDO1 skos:exactMatch hgnc.symbol:IDO1 semapv:UnspecifiedMatching OMIM:147435 IDO1 skos:exactMatch ncbigene:3620 semapv:UnspecifiedMatching -OMIM:147440 IGF1 skos:exactMatch hgnc:IGF1 semapv:UnspecifiedMatching +OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:5464 semapv:UnspecifiedMatching +OMIM:147440 IGF1 skos:exactMatch hgnc.symbol:IGF1 semapv:UnspecifiedMatching OMIM:147440 IGF1 skos:exactMatch ncbigene:3479 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch UMLS:C1420306 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch UMLS:C1862939 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch UMLS:C3542025 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch UMLS:C5231422 semapv:UnspecifiedMatching -OMIM:147450 SOD1 skos:exactMatch hgnc:SOD1 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:11179 semapv:UnspecifiedMatching +OMIM:147450 SOD1 skos:exactMatch hgnc.symbol:SOD1 semapv:UnspecifiedMatching OMIM:147450 SOD1 skos:exactMatch ncbigene:6647 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch UMLS:C1420307 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch UMLS:C2675128 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch UMLS:C4016223 semapv:UnspecifiedMatching -OMIM:147460 SOD2 skos:exactMatch hgnc:SOD2 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:11180 semapv:UnspecifiedMatching +OMIM:147460 SOD2 skos:exactMatch hgnc.symbol:SOD2 semapv:UnspecifiedMatching OMIM:147460 SOD2 skos:exactMatch ncbigene:6648 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch UMLS:C1334091 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch UMLS:C4016224 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching -OMIM:147470 IGF2 skos:exactMatch hgnc:IGF2 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:5466 semapv:UnspecifiedMatching +OMIM:147470 IGF2 skos:exactMatch hgnc.symbol:IGF2 semapv:UnspecifiedMatching OMIM:147470 IGF2 skos:exactMatch ncbigene:3481 semapv:UnspecifiedMatching -OMIM:147485 IPP skos:exactMatch hgnc:IPP semapv:UnspecifiedMatching +OMIM:147485 IPP skos:exactMatch hgnc.symbol:6108 semapv:UnspecifiedMatching +OMIM:147485 IPP skos:exactMatch hgnc.symbol:IPP semapv:UnspecifiedMatching OMIM:147485 IPP skos:exactMatch ncbigene:3652 semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch UMLS:C0342800 semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch UMLS:C1416514 semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching -OMIM:147520 ITPA skos:exactMatch hgnc:ITPA semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch hgnc.symbol:6176 semapv:UnspecifiedMatching +OMIM:147520 ITPA skos:exactMatch hgnc.symbol:ITPA semapv:UnspecifiedMatching OMIM:147520 ITPA skos:exactMatch ncbigene:3704 semapv:UnspecifiedMatching -OMIM:147521 ITPKA skos:exactMatch hgnc:ITPKA semapv:UnspecifiedMatching +OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:6178 semapv:UnspecifiedMatching +OMIM:147521 ITPKA skos:exactMatch hgnc.symbol:ITPKA semapv:UnspecifiedMatching OMIM:147521 ITPKA skos:exactMatch ncbigene:3706 semapv:UnspecifiedMatching -OMIM:147522 ITPKB skos:exactMatch hgnc:ITPKB semapv:UnspecifiedMatching +OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:6179 semapv:UnspecifiedMatching +OMIM:147522 ITPKB skos:exactMatch hgnc.symbol:ITPKB semapv:UnspecifiedMatching OMIM:147522 ITPKB skos:exactMatch ncbigene:3707 semapv:UnspecifiedMatching -OMIM:147545 IRS1 skos:exactMatch hgnc:IRS1 semapv:UnspecifiedMatching +OMIM:147545 IRS1 skos:exactMatch hgnc.symbol:6125 semapv:UnspecifiedMatching +OMIM:147545 IRS1 skos:exactMatch hgnc.symbol:IRS1 semapv:UnspecifiedMatching OMIM:147545 IRS1 skos:exactMatch ncbigene:3667 semapv:UnspecifiedMatching -OMIM:147553 IFNW1 skos:exactMatch hgnc:IFNW1 semapv:UnspecifiedMatching +OMIM:147553 IFNW1 skos:exactMatch hgnc.symbol:5448 semapv:UnspecifiedMatching +OMIM:147553 IFNW1 skos:exactMatch hgnc.symbol:IFNW1 semapv:UnspecifiedMatching OMIM:147553 IFNW1 skos:exactMatch ncbigene:3467 semapv:UnspecifiedMatching -OMIM:147556 ITGA6 skos:exactMatch hgnc:ITGA6 semapv:UnspecifiedMatching +OMIM:147556 ITGA6 skos:exactMatch hgnc.symbol:6142 semapv:UnspecifiedMatching +OMIM:147556 ITGA6 skos:exactMatch hgnc.symbol:ITGA6 semapv:UnspecifiedMatching OMIM:147556 ITGA6 skos:exactMatch ncbigene:3655 semapv:UnspecifiedMatching -OMIM:147557 ITGB4 skos:exactMatch hgnc:ITGB4 semapv:UnspecifiedMatching +OMIM:147557 ITGB4 skos:exactMatch hgnc.symbol:6158 semapv:UnspecifiedMatching +OMIM:147557 ITGB4 skos:exactMatch hgnc.symbol:ITGB4 semapv:UnspecifiedMatching OMIM:147557 ITGB4 skos:exactMatch ncbigene:3691 semapv:UnspecifiedMatching -OMIM:147558 ITGB6 skos:exactMatch hgnc:ITGB6 semapv:UnspecifiedMatching +OMIM:147558 ITGB6 skos:exactMatch hgnc.symbol:6161 semapv:UnspecifiedMatching +OMIM:147558 ITGB6 skos:exactMatch hgnc.symbol:ITGB6 semapv:UnspecifiedMatching OMIM:147558 ITGB6 skos:exactMatch ncbigene:3694 semapv:UnspecifiedMatching -OMIM:147559 ITGB7 skos:exactMatch hgnc:ITGB7 semapv:UnspecifiedMatching +OMIM:147559 ITGB7 skos:exactMatch hgnc.symbol:6162 semapv:UnspecifiedMatching +OMIM:147559 ITGB7 skos:exactMatch hgnc.symbol:ITGB7 semapv:UnspecifiedMatching OMIM:147559 ITGB7 skos:exactMatch ncbigene:3695 semapv:UnspecifiedMatching -OMIM:147561 ITGB5 skos:exactMatch hgnc:ITGB5 semapv:UnspecifiedMatching +OMIM:147561 ITGB5 skos:exactMatch hgnc.symbol:6160 semapv:UnspecifiedMatching +OMIM:147561 ITGB5 skos:exactMatch hgnc.symbol:ITGB5 semapv:UnspecifiedMatching OMIM:147561 ITGB5 skos:exactMatch ncbigene:3693 semapv:UnspecifiedMatching -OMIM:147562 IFNA2 skos:exactMatch hgnc:IFNA2 semapv:UnspecifiedMatching +OMIM:147562 IFNA2 skos:exactMatch hgnc.symbol:5423 semapv:UnspecifiedMatching +OMIM:147562 IFNA2 skos:exactMatch hgnc.symbol:IFNA2 semapv:UnspecifiedMatching OMIM:147562 IFNA2 skos:exactMatch ncbigene:3440 semapv:UnspecifiedMatching -OMIM:147563 IBSP skos:exactMatch hgnc:IBSP semapv:UnspecifiedMatching +OMIM:147563 IBSP skos:exactMatch hgnc.symbol:5341 semapv:UnspecifiedMatching +OMIM:147563 IBSP skos:exactMatch hgnc.symbol:IBSP semapv:UnspecifiedMatching OMIM:147563 IBSP skos:exactMatch ncbigene:3381 semapv:UnspecifiedMatching -OMIM:147564 IFNA4 skos:exactMatch hgnc:IFNA4 semapv:UnspecifiedMatching +OMIM:147564 IFNA4 skos:exactMatch hgnc.symbol:5425 semapv:UnspecifiedMatching +OMIM:147564 IFNA4 skos:exactMatch hgnc.symbol:IFNA4 semapv:UnspecifiedMatching OMIM:147564 IFNA4 skos:exactMatch ncbigene:3441 semapv:UnspecifiedMatching -OMIM:147565 IFNA5 skos:exactMatch hgnc:IFNA5 semapv:UnspecifiedMatching +OMIM:147565 IFNA5 skos:exactMatch hgnc.symbol:5426 semapv:UnspecifiedMatching +OMIM:147565 IFNA5 skos:exactMatch hgnc.symbol:IFNA5 semapv:UnspecifiedMatching OMIM:147565 IFNA5 skos:exactMatch ncbigene:3442 semapv:UnspecifiedMatching -OMIM:147566 IFNA6 skos:exactMatch hgnc:IFNA6 semapv:UnspecifiedMatching +OMIM:147566 IFNA6 skos:exactMatch hgnc.symbol:5427 semapv:UnspecifiedMatching +OMIM:147566 IFNA6 skos:exactMatch hgnc.symbol:IFNA6 semapv:UnspecifiedMatching OMIM:147566 IFNA6 skos:exactMatch ncbigene:3443 semapv:UnspecifiedMatching -OMIM:147567 IFNA7 skos:exactMatch hgnc:IFNA7 semapv:UnspecifiedMatching +OMIM:147567 IFNA7 skos:exactMatch hgnc.symbol:5428 semapv:UnspecifiedMatching +OMIM:147567 IFNA7 skos:exactMatch hgnc.symbol:IFNA7 semapv:UnspecifiedMatching OMIM:147567 IFNA7 skos:exactMatch ncbigene:3444 semapv:UnspecifiedMatching -OMIM:147568 IFNA8 skos:exactMatch hgnc:IFNA8 semapv:UnspecifiedMatching +OMIM:147568 IFNA8 skos:exactMatch hgnc.symbol:5429 semapv:UnspecifiedMatching +OMIM:147568 IFNA8 skos:exactMatch hgnc.symbol:IFNA8 semapv:UnspecifiedMatching OMIM:147568 IFNA8 skos:exactMatch ncbigene:3445 semapv:UnspecifiedMatching OMIM:147569 IFNGR2 skos:exactMatch UMLS:C1334084 semapv:UnspecifiedMatching OMIM:147569 IFNGR2 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching -OMIM:147569 IFNGR2 skos:exactMatch hgnc:IFNGR2 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:5440 semapv:UnspecifiedMatching +OMIM:147569 IFNGR2 skos:exactMatch hgnc.symbol:IFNGR2 semapv:UnspecifiedMatching OMIM:147569 IFNGR2 skos:exactMatch ncbigene:3460 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C1334085 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching @@ -3239,35 +4338,50 @@ OMIM:147570 IFNG skos:exactMatch UMLS:C2750389 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C2750460 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C4016227 semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching -OMIM:147570 IFNG skos:exactMatch hgnc:IFNG semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch hgnc.symbol:5438 semapv:UnspecifiedMatching +OMIM:147570 IFNG skos:exactMatch hgnc.symbol:IFNG semapv:UnspecifiedMatching OMIM:147570 IFNG skos:exactMatch ncbigene:3458 semapv:UnspecifiedMatching -OMIM:147571 ISG15 skos:exactMatch hgnc:ISG15 semapv:UnspecifiedMatching +OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:4053 semapv:UnspecifiedMatching +OMIM:147571 ISG15 skos:exactMatch hgnc.symbol:ISG15 semapv:UnspecifiedMatching OMIM:147571 ISG15 skos:exactMatch ncbigene:9636 semapv:UnspecifiedMatching -OMIM:147572 IFI6 skos:exactMatch hgnc:IFI6 semapv:UnspecifiedMatching +OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:4054 semapv:UnspecifiedMatching +OMIM:147572 IFI6 skos:exactMatch hgnc.symbol:IFI6 semapv:UnspecifiedMatching OMIM:147572 IFI6 skos:exactMatch ncbigene:2537 semapv:UnspecifiedMatching -OMIM:147573 IFNR skos:exactMatch hgnc:IFNR semapv:UnspecifiedMatching +OMIM:147573 IFNR skos:exactMatch hgnc.symbol:5447 semapv:UnspecifiedMatching +OMIM:147573 IFNR skos:exactMatch hgnc.symbol:IFNR semapv:UnspecifiedMatching OMIM:147573 IFNR skos:exactMatch ncbigene:3466 semapv:UnspecifiedMatching -OMIM:147574 IRF9 skos:exactMatch hgnc:IRF9 semapv:UnspecifiedMatching +OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:6131 semapv:UnspecifiedMatching +OMIM:147574 IRF9 skos:exactMatch hgnc.symbol:IRF9 semapv:UnspecifiedMatching OMIM:147574 IRF9 skos:exactMatch ncbigene:10379 semapv:UnspecifiedMatching -OMIM:147575 IRF1 skos:exactMatch hgnc:IRF1 semapv:UnspecifiedMatching +OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:6116 semapv:UnspecifiedMatching +OMIM:147575 IRF1 skos:exactMatch hgnc.symbol:IRF1 semapv:UnspecifiedMatching OMIM:147575 IRF1 skos:exactMatch ncbigene:3659 semapv:UnspecifiedMatching -OMIM:147576 IRF2 skos:exactMatch hgnc:IRF2 semapv:UnspecifiedMatching +OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:6117 semapv:UnspecifiedMatching +OMIM:147576 IRF2 skos:exactMatch hgnc.symbol:IRF2 semapv:UnspecifiedMatching OMIM:147576 IRF2 skos:exactMatch ncbigene:3660 semapv:UnspecifiedMatching -OMIM:147577 IFNA10 skos:exactMatch hgnc:IFNA10 semapv:UnspecifiedMatching +OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:5418 semapv:UnspecifiedMatching +OMIM:147577 IFNA10 skos:exactMatch hgnc.symbol:IFNA10 semapv:UnspecifiedMatching OMIM:147577 IFNA10 skos:exactMatch ncbigene:3446 semapv:UnspecifiedMatching -OMIM:147578 IFNA13 skos:exactMatch hgnc:IFNA13 semapv:UnspecifiedMatching +OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:5419 semapv:UnspecifiedMatching +OMIM:147578 IFNA13 skos:exactMatch hgnc.symbol:IFNA13 semapv:UnspecifiedMatching OMIM:147578 IFNA13 skos:exactMatch ncbigene:3447 semapv:UnspecifiedMatching -OMIM:147579 IFNA14 skos:exactMatch hgnc:IFNA14 semapv:UnspecifiedMatching +OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:5420 semapv:UnspecifiedMatching +OMIM:147579 IFNA14 skos:exactMatch hgnc.symbol:IFNA14 semapv:UnspecifiedMatching OMIM:147579 IFNA14 skos:exactMatch ncbigene:3448 semapv:UnspecifiedMatching -OMIM:147580 IFNA16 skos:exactMatch hgnc:IFNA16 semapv:UnspecifiedMatching +OMIM:147580 IFNA16 skos:exactMatch hgnc.symbol:5421 semapv:UnspecifiedMatching +OMIM:147580 IFNA16 skos:exactMatch hgnc.symbol:IFNA16 semapv:UnspecifiedMatching OMIM:147580 IFNA16 skos:exactMatch ncbigene:3449 semapv:UnspecifiedMatching -OMIM:147582 IREB2 skos:exactMatch hgnc:IREB2 semapv:UnspecifiedMatching +OMIM:147582 IREB2 skos:exactMatch hgnc.symbol:6115 semapv:UnspecifiedMatching +OMIM:147582 IREB2 skos:exactMatch hgnc.symbol:IREB2 semapv:UnspecifiedMatching OMIM:147582 IREB2 skos:exactMatch ncbigene:3658 semapv:UnspecifiedMatching -OMIM:147583 IFNA17 skos:exactMatch hgnc:IFNA17 semapv:UnspecifiedMatching +OMIM:147583 IFNA17 skos:exactMatch hgnc.symbol:5422 semapv:UnspecifiedMatching +OMIM:147583 IFNA17 skos:exactMatch hgnc.symbol:IFNA17 semapv:UnspecifiedMatching OMIM:147583 IFNA17 skos:exactMatch ncbigene:3451 semapv:UnspecifiedMatching -OMIM:147584 IFNA21 skos:exactMatch hgnc:IFNA21 semapv:UnspecifiedMatching +OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:5424 semapv:UnspecifiedMatching +OMIM:147584 IFNA21 skos:exactMatch hgnc.symbol:IFNA21 semapv:UnspecifiedMatching OMIM:147584 IFNA21 skos:exactMatch ncbigene:3452 semapv:UnspecifiedMatching -OMIM:147586 IFI16 skos:exactMatch hgnc:IFI16 semapv:UnspecifiedMatching +OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:5395 semapv:UnspecifiedMatching +OMIM:147586 IFI16 skos:exactMatch hgnc.symbol:IFI16 semapv:UnspecifiedMatching OMIM:147586 IFI16 skos:exactMatch ncbigene:3428 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C1334122 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C1840138 semapv:UnspecifiedMatching @@ -3277,18 +4391,23 @@ OMIM:147620 IL6 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C3837968 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C4016228 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch UMLS:C4016229 semapv:UnspecifiedMatching -OMIM:147620 IL6 skos:exactMatch hgnc:IL6 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch hgnc.symbol:6018 semapv:UnspecifiedMatching +OMIM:147620 IL6 skos:exactMatch hgnc.symbol:IL6 semapv:UnspecifiedMatching OMIM:147620 IL6 skos:exactMatch ncbigene:3569 semapv:UnspecifiedMatching -OMIM:147625 ICA1 skos:exactMatch hgnc:ICA1 semapv:UnspecifiedMatching +OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:5343 semapv:UnspecifiedMatching +OMIM:147625 ICA1 skos:exactMatch hgnc.symbol:ICA1 semapv:UnspecifiedMatching OMIM:147625 ICA1 skos:exactMatch ncbigene:3382 semapv:UnspecifiedMatching OMIM:147630 insulinomatosis and diabetes mellitus skos:exactMatch UMLS:C1578917 semapv:UnspecifiedMatching -OMIM:147640 IFNB1 skos:exactMatch hgnc:IFNB1 semapv:UnspecifiedMatching +OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:5434 semapv:UnspecifiedMatching +OMIM:147640 IFNB1 skos:exactMatch hgnc.symbol:IFNB1 semapv:UnspecifiedMatching OMIM:147640 IFNB1 skos:exactMatch ncbigene:3456 semapv:UnspecifiedMatching OMIM:147650 IDH2 skos:exactMatch UMLS:C1415877 semapv:UnspecifiedMatching OMIM:147650 IDH2 skos:exactMatch UMLS:C3150909 semapv:UnspecifiedMatching -OMIM:147650 IDH2 skos:exactMatch hgnc:IDH2 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:5383 semapv:UnspecifiedMatching +OMIM:147650 IDH2 skos:exactMatch hgnc.symbol:IDH2 semapv:UnspecifiedMatching OMIM:147650 IDH2 skos:exactMatch ncbigene:3418 semapv:UnspecifiedMatching -OMIM:147660 IFNA1 skos:exactMatch hgnc:IFNA1 semapv:UnspecifiedMatching +OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:5417 semapv:UnspecifiedMatching +OMIM:147660 IFNA1 skos:exactMatch hgnc.symbol:IFNA1 semapv:UnspecifiedMatching OMIM:147660 IFNA1 skos:exactMatch ncbigene:3439 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C0021655 semapv:UnspecifiedMatching @@ -3299,61 +4418,79 @@ OMIM:147670 INSR skos:exactMatch UMLS:C0854110 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C1334133 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C1864952 semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:147670 INSR skos:exactMatch hgnc:INSR semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch hgnc.symbol:6091 semapv:UnspecifiedMatching +OMIM:147670 INSR skos:exactMatch hgnc.symbol:INSR semapv:UnspecifiedMatching OMIM:147670 INSR skos:exactMatch ncbigene:3643 semapv:UnspecifiedMatching -OMIM:147671 INSRR skos:exactMatch hgnc:INSRR semapv:UnspecifiedMatching +OMIM:147671 INSRR skos:exactMatch hgnc.symbol:6093 semapv:UnspecifiedMatching +OMIM:147671 INSRR skos:exactMatch hgnc.symbol:INSRR semapv:UnspecifiedMatching OMIM:147671 INSRR skos:exactMatch ncbigene:3645 semapv:UnspecifiedMatching -OMIM:147678 CASP1 skos:exactMatch hgnc:CASP1 semapv:UnspecifiedMatching +OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:1499 semapv:UnspecifiedMatching +OMIM:147678 CASP1 skos:exactMatch hgnc.symbol:CASP1 semapv:UnspecifiedMatching OMIM:147678 CASP1 skos:exactMatch ncbigene:834 semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C1416402 semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C2675112 semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C2748507 semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch UMLS:C4016230 semapv:UnspecifiedMatching -OMIM:147679 IL1RN skos:exactMatch hgnc:IL1RN semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:6000 semapv:UnspecifiedMatching +OMIM:147679 IL1RN skos:exactMatch hgnc.symbol:IL1RN semapv:UnspecifiedMatching OMIM:147679 IL1RN skos:exactMatch ncbigene:3557 semapv:UnspecifiedMatching -OMIM:147680 IL2 skos:exactMatch hgnc:IL2 semapv:UnspecifiedMatching +OMIM:147680 IL2 skos:exactMatch hgnc.symbol:6001 semapv:UnspecifiedMatching +OMIM:147680 IL2 skos:exactMatch hgnc.symbol:IL2 semapv:UnspecifiedMatching OMIM:147680 IL2 skos:exactMatch ncbigene:3558 semapv:UnspecifiedMatching -OMIM:147681 IL11 skos:exactMatch hgnc:IL11 semapv:UnspecifiedMatching +OMIM:147681 IL11 skos:exactMatch hgnc.symbol:5966 semapv:UnspecifiedMatching +OMIM:147681 IL11 skos:exactMatch hgnc.symbol:IL11 semapv:UnspecifiedMatching OMIM:147681 IL11 skos:exactMatch ncbigene:3589 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch UMLS:C1334103 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch UMLS:C1869116 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch UMLS:C4017540 semapv:UnspecifiedMatching -OMIM:147683 IL13 skos:exactMatch hgnc:IL13 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch hgnc.symbol:5973 semapv:UnspecifiedMatching +OMIM:147683 IL13 skos:exactMatch hgnc.symbol:IL13 semapv:UnspecifiedMatching OMIM:147683 IL13 skos:exactMatch ncbigene:3596 semapv:UnspecifiedMatching -OMIM:147685 FOXK2 skos:exactMatch hgnc:FOXK2 semapv:UnspecifiedMatching +OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:6036 semapv:UnspecifiedMatching +OMIM:147685 FOXK2 skos:exactMatch hgnc.symbol:FOXK2 semapv:UnspecifiedMatching OMIM:147685 FOXK2 skos:exactMatch ncbigene:3607 semapv:UnspecifiedMatching -OMIM:147690 IFIT1 skos:exactMatch hgnc:IFIT1 semapv:UnspecifiedMatching +OMIM:147690 IFIT1 skos:exactMatch hgnc.symbol:5407 semapv:UnspecifiedMatching +OMIM:147690 IFIT1 skos:exactMatch hgnc.symbol:IFIT1 semapv:UnspecifiedMatching OMIM:147690 IFIT1 skos:exactMatch ncbigene:3434 semapv:UnspecifiedMatching -OMIM:147700 IDH1 skos:exactMatch hgnc:IDH1 semapv:UnspecifiedMatching +OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:5382 semapv:UnspecifiedMatching +OMIM:147700 IDH1 skos:exactMatch hgnc.symbol:IDH1 semapv:UnspecifiedMatching OMIM:147700 IDH1 skos:exactMatch ncbigene:3417 semapv:UnspecifiedMatching -OMIM:147720 IL1B skos:exactMatch hgnc:IL1B semapv:UnspecifiedMatching +OMIM:147720 IL1B skos:exactMatch hgnc.symbol:5992 semapv:UnspecifiedMatching +OMIM:147720 IL1B skos:exactMatch hgnc.symbol:IL1B semapv:UnspecifiedMatching OMIM:147720 IL1B skos:exactMatch ncbigene:3553 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch UMLS:C1334114 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch UMLS:C1853392 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch UMLS:C5436940 semapv:UnspecifiedMatching -OMIM:147730 IL2RA skos:exactMatch hgnc:IL2RA semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:6008 semapv:UnspecifiedMatching +OMIM:147730 IL2RA skos:exactMatch hgnc.symbol:IL2RA semapv:UnspecifiedMatching OMIM:147730 IL2RA skos:exactMatch ncbigene:3559 semapv:UnspecifiedMatching -OMIM:147740 IL3 skos:exactMatch hgnc:IL3 semapv:UnspecifiedMatching +OMIM:147740 IL3 skos:exactMatch hgnc.symbol:6011 semapv:UnspecifiedMatching +OMIM:147740 IL3 skos:exactMatch hgnc.symbol:IL3 semapv:UnspecifiedMatching OMIM:147740 IL3 skos:exactMatch ncbigene:3562 semapv:UnspecifiedMatching +OMIM:147750 ivic syndrome skos:exactMatch Orphanet:2307 semapv:UnspecifiedMatching OMIM:147750 ivic syndrome skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching -OMIM:147750 ivic syndrome skos:exactMatch orphanet.ordo:2307 semapv:UnspecifiedMatching -OMIM:147760 IL1A skos:exactMatch hgnc:IL1A semapv:UnspecifiedMatching +OMIM:147760 IL1A skos:exactMatch hgnc.symbol:5991 semapv:UnspecifiedMatching +OMIM:147760 IL1A skos:exactMatch hgnc.symbol:IL1A semapv:UnspecifiedMatching OMIM:147760 IL1A skos:exactMatch ncbigene:3552 semapv:UnspecifiedMatching +OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 semapv:UnspecifiedMatching OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch UMLS:C0796002 semapv:UnspecifiedMatching -OMIM:147770 johnson neuroectodermal syndrome skos:exactMatch orphanet.ordo:2316 semapv:UnspecifiedMatching OMIM:147780 IL4 skos:exactMatch UMLS:C1334119 semapv:UnspecifiedMatching -OMIM:147780 IL4 skos:exactMatch hgnc:IL4 semapv:UnspecifiedMatching +OMIM:147780 IL4 skos:exactMatch hgnc.symbol:6014 semapv:UnspecifiedMatching +OMIM:147780 IL4 skos:exactMatch hgnc.symbol:IL4 semapv:UnspecifiedMatching OMIM:147780 IL4 skos:exactMatch ncbigene:3565 semapv:UnspecifiedMatching -OMIM:147781 IL4R skos:exactMatch hgnc:IL4R semapv:UnspecifiedMatching +OMIM:147781 IL4R skos:exactMatch hgnc.symbol:6015 semapv:UnspecifiedMatching +OMIM:147781 IL4R skos:exactMatch hgnc.symbol:IL4R semapv:UnspecifiedMatching OMIM:147781 IL4R skos:exactMatch ncbigene:3566 semapv:UnspecifiedMatching -OMIM:147790 JCHAIN skos:exactMatch hgnc:JCHAIN semapv:UnspecifiedMatching +OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:5713 semapv:UnspecifiedMatching +OMIM:147790 JCHAIN skos:exactMatch hgnc.symbol:JCHAIN semapv:UnspecifiedMatching OMIM:147790 JCHAIN skos:exactMatch ncbigene:3512 semapv:UnspecifiedMatching +OMIM:147791 jacobsen syndrome skos:exactMatch Orphanet:2308 semapv:UnspecifiedMatching OMIM:147791 jacobsen syndrome skos:exactMatch UMLS:C0795841 semapv:UnspecifiedMatching -OMIM:147791 jacobsen syndrome skos:exactMatch orphanet.ordo:2308 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch UMLS:C1334290 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching -OMIM:147795 JAK1 skos:exactMatch hgnc:JAK1 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:6190 semapv:UnspecifiedMatching +OMIM:147795 JAK1 skos:exactMatch hgnc.symbol:JAK1 semapv:UnspecifiedMatching OMIM:147795 JAK1 skos:exactMatch ncbigene:3716 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C1334291 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching @@ -3364,52 +4501,70 @@ OMIM:147796 JAK2 skos:exactMatch UMLS:C3281125 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C3838644 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C4016233 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch UMLS:C4016234 semapv:UnspecifiedMatching -OMIM:147796 JAK2 skos:exactMatch hgnc:JAK2 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:6192 semapv:UnspecifiedMatching +OMIM:147796 JAK2 skos:exactMatch hgnc.symbol:JAK2 semapv:UnspecifiedMatching OMIM:147796 JAK2 skos:exactMatch ncbigene:3717 semapv:UnspecifiedMatching -OMIM:147810 IL1R1 skos:exactMatch hgnc:IL1R1 semapv:UnspecifiedMatching +OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:5993 semapv:UnspecifiedMatching +OMIM:147810 IL1R1 skos:exactMatch hgnc.symbol:IL1R1 semapv:UnspecifiedMatching OMIM:147810 IL1R1 skos:exactMatch ncbigene:3554 semapv:UnspecifiedMatching OMIM:147811 IL1R2 skos:exactMatch UMLS:C1416396 semapv:UnspecifiedMatching -OMIM:147811 IL1R2 skos:exactMatch hgnc:IL1R2 semapv:UnspecifiedMatching +OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:5994 semapv:UnspecifiedMatching +OMIM:147811 IL1R2 skos:exactMatch hgnc.symbol:IL1R2 semapv:UnspecifiedMatching OMIM:147811 IL1R2 skos:exactMatch ncbigene:7850 semapv:UnspecifiedMatching -OMIM:147840 ICAM1 skos:exactMatch hgnc:ICAM1 semapv:UnspecifiedMatching +OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:5344 semapv:UnspecifiedMatching +OMIM:147840 ICAM1 skos:exactMatch hgnc.symbol:ICAM1 semapv:UnspecifiedMatching OMIM:147840 ICAM1 skos:exactMatch ncbigene:3383 semapv:UnspecifiedMatching -OMIM:147850 IL5 skos:exactMatch hgnc:IL5 semapv:UnspecifiedMatching +OMIM:147850 IL5 skos:exactMatch hgnc.symbol:6016 semapv:UnspecifiedMatching +OMIM:147850 IL5 skos:exactMatch hgnc.symbol:IL5 semapv:UnspecifiedMatching OMIM:147850 IL5 skos:exactMatch ncbigene:3567 semapv:UnspecifiedMatching -OMIM:147851 IL5RA skos:exactMatch hgnc:IL5RA semapv:UnspecifiedMatching +OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:6017 semapv:UnspecifiedMatching +OMIM:147851 IL5RA skos:exactMatch hgnc.symbol:IL5RA semapv:UnspecifiedMatching OMIM:147851 IL5RA skos:exactMatch ncbigene:3568 semapv:UnspecifiedMatching -OMIM:147870 WNT2 skos:exactMatch hgnc:WNT2 semapv:UnspecifiedMatching +OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:12780 semapv:UnspecifiedMatching +OMIM:147870 WNT2 skos:exactMatch hgnc.symbol:WNT2 semapv:UnspecifiedMatching OMIM:147870 WNT2 skos:exactMatch ncbigene:7472 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C1416409 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C3540094 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C3553493 semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching -OMIM:147880 IL6R skos:exactMatch hgnc:IL6R semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch hgnc.symbol:6019 semapv:UnspecifiedMatching +OMIM:147880 IL6R skos:exactMatch hgnc.symbol:IL6R semapv:UnspecifiedMatching OMIM:147880 IL6R skos:exactMatch ncbigene:3570 semapv:UnspecifiedMatching -OMIM:147890 MX2 skos:exactMatch hgnc:MX2 semapv:UnspecifiedMatching +OMIM:147890 MX2 skos:exactMatch hgnc.symbol:7533 semapv:UnspecifiedMatching +OMIM:147890 MX2 skos:exactMatch hgnc.symbol:MX2 semapv:UnspecifiedMatching OMIM:147890 MX2 skos:exactMatch ncbigene:4600 semapv:UnspecifiedMatching +OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch Orphanet:1509 semapv:UnspecifiedMatching OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch UMLS:C1868581 semapv:UnspecifiedMatching -OMIM:147891 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension skos:exactMatch orphanet.ordo:1509 semapv:UnspecifiedMatching -OMIM:147892 DIO1 skos:exactMatch hgnc:DIO1 semapv:UnspecifiedMatching +OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:2883 semapv:UnspecifiedMatching +OMIM:147892 DIO1 skos:exactMatch hgnc.symbol:DIO1 semapv:UnspecifiedMatching OMIM:147892 DIO1 skos:exactMatch ncbigene:1733 semapv:UnspecifiedMatching -OMIM:147910 KLK1 skos:exactMatch hgnc:KLK1 semapv:UnspecifiedMatching +OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:6357 semapv:UnspecifiedMatching +OMIM:147910 KLK1 skos:exactMatch hgnc.symbol:KLK1 semapv:UnspecifiedMatching OMIM:147910 KLK1 skos:exactMatch ncbigene:3816 semapv:UnspecifiedMatching -OMIM:147935 SERPINA4 skos:exactMatch hgnc:SERPINA4 semapv:UnspecifiedMatching +OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:8948 semapv:UnspecifiedMatching +OMIM:147935 SERPINA4 skos:exactMatch hgnc.symbol:SERPINA4 semapv:UnspecifiedMatching OMIM:147935 SERPINA4 skos:exactMatch ncbigene:5267 semapv:UnspecifiedMatching -OMIM:147940 IAPP skos:exactMatch hgnc:IAPP semapv:UnspecifiedMatching +OMIM:147940 IAPP skos:exactMatch hgnc.symbol:5329 semapv:UnspecifiedMatching +OMIM:147940 IAPP skos:exactMatch hgnc.symbol:IAPP semapv:UnspecifiedMatching OMIM:147940 IAPP skos:exactMatch ncbigene:3375 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:432 semapv:UnspecifiedMatching +OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch UMLS:C1563720 semapv:UnspecifiedMatching -OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch orphanet.ordo:432 semapv:UnspecifiedMatching -OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch orphanet.ordo:478 semapv:UnspecifiedMatching -OMIM:147960 KLK2 skos:exactMatch hgnc:KLK2 semapv:UnspecifiedMatching +OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:6363 semapv:UnspecifiedMatching +OMIM:147960 KLK2 skos:exactMatch hgnc.symbol:KLK2 semapv:UnspecifiedMatching OMIM:147960 KLK2 skos:exactMatch ncbigene:3817 semapv:UnspecifiedMatching -OMIM:148020 KRT19 skos:exactMatch hgnc:KRT19 semapv:UnspecifiedMatching +OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:6436 semapv:UnspecifiedMatching +OMIM:148020 KRT19 skos:exactMatch hgnc.symbol:KRT19 semapv:UnspecifiedMatching OMIM:148020 KRT19 skos:exactMatch ncbigene:3880 semapv:UnspecifiedMatching -OMIM:148021 KRTAP5-9 skos:exactMatch hgnc:KRTAP5-9 semapv:UnspecifiedMatching +OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:23604 semapv:UnspecifiedMatching +OMIM:148021 KRTAP5-9 skos:exactMatch hgnc.symbol:KRTAP5-9 semapv:UnspecifiedMatching OMIM:148021 KRTAP5-9 skos:exactMatch ncbigene:3846 semapv:UnspecifiedMatching -OMIM:148022 KRTAP5-1 skos:exactMatch hgnc:KRTAP5-1 semapv:UnspecifiedMatching +OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:23596 semapv:UnspecifiedMatching +OMIM:148022 KRTAP5-1 skos:exactMatch hgnc.symbol:KRTAP5-1 semapv:UnspecifiedMatching OMIM:148022 KRTAP5-1 skos:exactMatch ncbigene:387264 semapv:UnspecifiedMatching -OMIM:148030 KRT15 skos:exactMatch hgnc:KRT15 semapv:UnspecifiedMatching +OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:6421 semapv:UnspecifiedMatching +OMIM:148030 KRT15 skos:exactMatch hgnc.symbol:KRT15 semapv:UnspecifiedMatching OMIM:148030 KRT15 skos:exactMatch ncbigene:3866 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C0079295 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C0079299 semapv:UnspecifiedMatching @@ -3421,79 +4576,106 @@ OMIM:148040 KRT5 skos:exactMatch UMLS:C3715082 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C4016235 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C4016236 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch UMLS:C4552092 semapv:UnspecifiedMatching -OMIM:148040 KRT5 skos:exactMatch hgnc:KRT5 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:6442 semapv:UnspecifiedMatching +OMIM:148040 KRT5 skos:exactMatch hgnc.symbol:KRT5 semapv:UnspecifiedMatching OMIM:148040 KRT5 skos:exactMatch ncbigene:3852 semapv:UnspecifiedMatching OMIM:148041 KRT6A skos:exactMatch UMLS:C1416743 semapv:UnspecifiedMatching OMIM:148041 KRT6A skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching -OMIM:148041 KRT6A skos:exactMatch hgnc:KRT6A semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:6443 semapv:UnspecifiedMatching +OMIM:148041 KRT6A skos:exactMatch hgnc.symbol:KRT6A semapv:UnspecifiedMatching OMIM:148041 KRT6A skos:exactMatch ncbigene:3853 semapv:UnspecifiedMatching OMIM:148042 KRT6B skos:exactMatch UMLS:C1416744 semapv:UnspecifiedMatching OMIM:148042 KRT6B skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching -OMIM:148042 KRT6B skos:exactMatch hgnc:KRT6B semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:6444 semapv:UnspecifiedMatching +OMIM:148042 KRT6B skos:exactMatch hgnc.symbol:KRT6B semapv:UnspecifiedMatching OMIM:148042 KRT6B skos:exactMatch ncbigene:3854 semapv:UnspecifiedMatching OMIM:148043 KRT3 skos:exactMatch UMLS:C1416740 semapv:UnspecifiedMatching OMIM:148043 KRT3 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching -OMIM:148043 KRT3 skos:exactMatch hgnc:KRT3 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:6440 semapv:UnspecifiedMatching +OMIM:148043 KRT3 skos:exactMatch hgnc.symbol:KRT3 semapv:UnspecifiedMatching OMIM:148043 KRT3 skos:exactMatch ncbigene:3850 semapv:UnspecifiedMatching -OMIM:148059 KRT7 skos:exactMatch hgnc:KRT7 semapv:UnspecifiedMatching +OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:6445 semapv:UnspecifiedMatching +OMIM:148059 KRT7 skos:exactMatch hgnc.symbol:KRT7 semapv:UnspecifiedMatching OMIM:148059 KRT7 skos:exactMatch ncbigene:3855 semapv:UnspecifiedMatching -OMIM:148060 KRT8 skos:exactMatch hgnc:KRT8 semapv:UnspecifiedMatching +OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:6446 semapv:UnspecifiedMatching +OMIM:148060 KRT8 skos:exactMatch hgnc.symbol:KRT8 semapv:UnspecifiedMatching OMIM:148060 KRT8 skos:exactMatch ncbigene:3856 semapv:UnspecifiedMatching OMIM:148065 KRT13 skos:exactMatch UMLS:C1416716 semapv:UnspecifiedMatching OMIM:148065 KRT13 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching -OMIM:148065 KRT13 skos:exactMatch hgnc:KRT13 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:6415 semapv:UnspecifiedMatching +OMIM:148065 KRT13 skos:exactMatch hgnc.symbol:KRT13 semapv:UnspecifiedMatching OMIM:148065 KRT13 skos:exactMatch ncbigene:3860 semapv:UnspecifiedMatching -OMIM:148066 KRT14 skos:exactMatch hgnc:KRT14 semapv:UnspecifiedMatching +OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:6416 semapv:UnspecifiedMatching +OMIM:148066 KRT14 skos:exactMatch hgnc.symbol:KRT14 semapv:UnspecifiedMatching OMIM:148066 KRT14 skos:exactMatch ncbigene:3861 semapv:UnspecifiedMatching -OMIM:148067 KRT16 skos:exactMatch hgnc:KRT16 semapv:UnspecifiedMatching +OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:6423 semapv:UnspecifiedMatching +OMIM:148067 KRT16 skos:exactMatch hgnc.symbol:KRT16 semapv:UnspecifiedMatching OMIM:148067 KRT16 skos:exactMatch ncbigene:3868 semapv:UnspecifiedMatching -OMIM:148069 KRT17 skos:exactMatch hgnc:KRT17 semapv:UnspecifiedMatching +OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:6427 semapv:UnspecifiedMatching +OMIM:148069 KRT17 skos:exactMatch hgnc.symbol:KRT17 semapv:UnspecifiedMatching OMIM:148069 KRT17 skos:exactMatch ncbigene:3872 semapv:UnspecifiedMatching -OMIM:148070 KRT18 skos:exactMatch hgnc:KRT18 semapv:UnspecifiedMatching +OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:6430 semapv:UnspecifiedMatching +OMIM:148070 KRT18 skos:exactMatch hgnc.symbol:KRT18 semapv:UnspecifiedMatching OMIM:148070 KRT18 skos:exactMatch ncbigene:3875 semapv:UnspecifiedMatching -OMIM:148080 KRT10 skos:exactMatch hgnc:KRT10 semapv:UnspecifiedMatching +OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:6413 semapv:UnspecifiedMatching +OMIM:148080 KRT10 skos:exactMatch hgnc.symbol:KRT10 semapv:UnspecifiedMatching OMIM:148080 KRT10 skos:exactMatch ncbigene:3858 semapv:UnspecifiedMatching OMIM:148180 FGF7 skos:exactMatch UMLS:C0919507 semapv:UnspecifiedMatching -OMIM:148180 FGF7 skos:exactMatch hgnc:FGF7 semapv:UnspecifiedMatching +OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:3685 semapv:UnspecifiedMatching +OMIM:148180 FGF7 skos:exactMatch hgnc.symbol:FGF7 semapv:UnspecifiedMatching OMIM:148180 FGF7 skos:exactMatch ncbigene:2252 semapv:UnspecifiedMatching +OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch UMLS:C0265336 semapv:UnspecifiedMatching -OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant skos:exactMatch orphanet.ordo:477 semapv:UnspecifiedMatching -OMIM:148760 KIF11 skos:exactMatch hgnc:KIF11 semapv:UnspecifiedMatching +OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:6388 semapv:UnspecifiedMatching +OMIM:148760 KIF11 skos:exactMatch hgnc.symbol:KIF11 semapv:UnspecifiedMatching OMIM:148760 KIF11 skos:exactMatch ncbigene:3832 semapv:UnspecifiedMatching OMIM:149100 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching +OMIM:149200 bart-pumphrey syndrome skos:exactMatch Orphanet:2698 semapv:UnspecifiedMatching OMIM:149200 bart-pumphrey syndrome skos:exactMatch UMLS:C0266004 semapv:UnspecifiedMatching -OMIM:149200 bart-pumphrey syndrome skos:exactMatch orphanet.ordo:2698 semapv:UnspecifiedMatching +OMIM:149400 hyperekplexia 1 skos:exactMatch Orphanet:3197 semapv:UnspecifiedMatching OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C1835614 semapv:UnspecifiedMatching OMIM:149400 hyperekplexia 1 skos:exactMatch UMLS:C4551954 semapv:UnspecifiedMatching -OMIM:149400 hyperekplexia 1 skos:exactMatch orphanet.ordo:3197 semapv:UnspecifiedMatching -OMIM:149750 LALBA skos:exactMatch hgnc:LALBA semapv:UnspecifiedMatching +OMIM:149750 LALBA skos:exactMatch hgnc.symbol:6480 semapv:UnspecifiedMatching +OMIM:149750 LALBA skos:exactMatch hgnc.symbol:LALBA semapv:UnspecifiedMatching OMIM:149750 LALBA skos:exactMatch ncbigene:3906 semapv:UnspecifiedMatching -OMIM:150000 LDHA skos:exactMatch hgnc:LDHA semapv:UnspecifiedMatching +OMIM:150000 LDHA skos:exactMatch hgnc.symbol:6535 semapv:UnspecifiedMatching +OMIM:150000 LDHA skos:exactMatch hgnc.symbol:LDHA semapv:UnspecifiedMatching OMIM:150000 LDHA skos:exactMatch ncbigene:3939 semapv:UnspecifiedMatching -OMIM:150100 LDHB skos:exactMatch hgnc:LDHB semapv:UnspecifiedMatching +OMIM:150100 LDHB skos:exactMatch hgnc.symbol:6541 semapv:UnspecifiedMatching +OMIM:150100 LDHB skos:exactMatch hgnc.symbol:LDHB semapv:UnspecifiedMatching OMIM:150100 LDHB skos:exactMatch ncbigene:3945 semapv:UnspecifiedMatching -OMIM:150150 LDHC skos:exactMatch hgnc:LDHC semapv:UnspecifiedMatching +OMIM:150150 LDHC skos:exactMatch hgnc.symbol:6544 semapv:UnspecifiedMatching +OMIM:150150 LDHC skos:exactMatch hgnc.symbol:LDHC semapv:UnspecifiedMatching OMIM:150150 LDHC skos:exactMatch ncbigene:3948 semapv:UnspecifiedMatching OMIM:150200 CSH1 skos:exactMatch UMLS:C1413752 semapv:UnspecifiedMatching -OMIM:150200 CSH1 skos:exactMatch hgnc:CSH1 semapv:UnspecifiedMatching +OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:2440 semapv:UnspecifiedMatching +OMIM:150200 CSH1 skos:exactMatch hgnc.symbol:CSH1 semapv:UnspecifiedMatching OMIM:150200 CSH1 skos:exactMatch ncbigene:1442 semapv:UnspecifiedMatching -OMIM:150205 LPO skos:exactMatch hgnc:LPO semapv:UnspecifiedMatching +OMIM:150205 LPO skos:exactMatch hgnc.symbol:6678 semapv:UnspecifiedMatching +OMIM:150205 LPO skos:exactMatch hgnc.symbol:LPO semapv:UnspecifiedMatching OMIM:150205 LPO skos:exactMatch ncbigene:4025 semapv:UnspecifiedMatching -OMIM:150210 LTF skos:exactMatch hgnc:LTF semapv:UnspecifiedMatching +OMIM:150210 LTF skos:exactMatch hgnc.symbol:6720 semapv:UnspecifiedMatching +OMIM:150210 LTF skos:exactMatch hgnc.symbol:LTF semapv:UnspecifiedMatching OMIM:150210 LTF skos:exactMatch ncbigene:4057 semapv:UnspecifiedMatching +OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch Orphanet:502 semapv:UnspecifiedMatching OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch UMLS:C0023003 semapv:UnspecifiedMatching -OMIM:150230 trichorhinophalangeal syndrome, iia 2 skos:exactMatch orphanet.ordo:502 semapv:UnspecifiedMatching -OMIM:150240 LAMB1 skos:exactMatch hgnc:LAMB1 semapv:UnspecifiedMatching +OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:6486 semapv:UnspecifiedMatching +OMIM:150240 LAMB1 skos:exactMatch hgnc.symbol:LAMB1 semapv:UnspecifiedMatching OMIM:150240 LAMB1 skos:exactMatch ncbigene:3912 semapv:UnspecifiedMatching -OMIM:150290 LAMC1 skos:exactMatch hgnc:LAMC1 semapv:UnspecifiedMatching +OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:6492 semapv:UnspecifiedMatching +OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:LAMC1 semapv:UnspecifiedMatching OMIM:150290 LAMC1 skos:exactMatch ncbigene:3915 semapv:UnspecifiedMatching -OMIM:150292 LAMC2 skos:exactMatch hgnc:LAMC2 semapv:UnspecifiedMatching +OMIM:150292 LAMC2 skos:exactMatch hgnc.symbol:6493 semapv:UnspecifiedMatching +OMIM:150292 LAMC2 skos:exactMatch hgnc.symbol:LAMC2 semapv:UnspecifiedMatching OMIM:150292 LAMC2 skos:exactMatch ncbigene:3918 semapv:UnspecifiedMatching -OMIM:150310 LAMB3 skos:exactMatch hgnc:LAMB3 semapv:UnspecifiedMatching +OMIM:150310 LAMB3 skos:exactMatch hgnc.symbol:6490 semapv:UnspecifiedMatching +OMIM:150310 LAMB3 skos:exactMatch hgnc.symbol:LAMB3 semapv:UnspecifiedMatching OMIM:150310 LAMB3 skos:exactMatch ncbigene:3914 semapv:UnspecifiedMatching -OMIM:150320 LAMA1 skos:exactMatch hgnc:LAMA1 semapv:UnspecifiedMatching +OMIM:150320 LAMA1 skos:exactMatch hgnc.symbol:6481 semapv:UnspecifiedMatching +OMIM:150320 LAMA1 skos:exactMatch hgnc.symbol:LAMA1 semapv:UnspecifiedMatching OMIM:150320 LAMA1 skos:exactMatch ncbigene:284217 semapv:UnspecifiedMatching -OMIM:150325 LAMB2 skos:exactMatch hgnc:LAMB2 semapv:UnspecifiedMatching +OMIM:150325 LAMB2 skos:exactMatch hgnc.symbol:6487 semapv:UnspecifiedMatching +OMIM:150325 LAMB2 skos:exactMatch hgnc.symbol:LAMB2 semapv:UnspecifiedMatching OMIM:150325 LAMB2 skos:exactMatch ncbigene:3913 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C0033300 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching @@ -3510,347 +4692,470 @@ OMIM:150330 LMNA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C4016241 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C4016243 semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch UMLS:C5399785 semapv:UnspecifiedMatching -OMIM:150330 LMNA skos:exactMatch hgnc:LMNA semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch hgnc.symbol:6636 semapv:UnspecifiedMatching +OMIM:150330 LMNA skos:exactMatch hgnc.symbol:LMNA semapv:UnspecifiedMatching OMIM:150330 LMNA skos:exactMatch ncbigene:4000 semapv:UnspecifiedMatching -OMIM:150340 LMNB1 skos:exactMatch hgnc:LMNB1 semapv:UnspecifiedMatching +OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:6637 semapv:UnspecifiedMatching +OMIM:150340 LMNB1 skos:exactMatch hgnc.symbol:LMNB1 semapv:UnspecifiedMatching OMIM:150340 LMNB1 skos:exactMatch ncbigene:4001 semapv:UnspecifiedMatching OMIM:150341 LMNB2 skos:exactMatch UMLS:C1416878 semapv:UnspecifiedMatching OMIM:150341 LMNB2 skos:exactMatch UMLS:C3887501 semapv:UnspecifiedMatching OMIM:150341 LMNB2 skos:exactMatch UMLS:C4225289 semapv:UnspecifiedMatching -OMIM:150341 LMNB2 skos:exactMatch hgnc:LMNB2 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:6638 semapv:UnspecifiedMatching +OMIM:150341 LMNB2 skos:exactMatch hgnc.symbol:LMNB2 semapv:UnspecifiedMatching OMIM:150341 LMNB2 skos:exactMatch ncbigene:84823 semapv:UnspecifiedMatching -OMIM:150370 RPSA skos:exactMatch hgnc:RPSA semapv:UnspecifiedMatching +OMIM:150370 RPSA skos:exactMatch hgnc.symbol:6502 semapv:UnspecifiedMatching +OMIM:150370 RPSA skos:exactMatch hgnc.symbol:RPSA semapv:UnspecifiedMatching OMIM:150370 RPSA skos:exactMatch ncbigene:3921 semapv:UnspecifiedMatching -OMIM:150390 LTBP1 skos:exactMatch hgnc:LTBP1 semapv:UnspecifiedMatching +OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:6714 semapv:UnspecifiedMatching +OMIM:150390 LTBP1 skos:exactMatch hgnc.symbol:LTBP1 semapv:UnspecifiedMatching OMIM:150390 LTBP1 skos:exactMatch ncbigene:4052 semapv:UnspecifiedMatching OMIM:150550 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching -OMIM:150570 LGALS1 skos:exactMatch hgnc:LGALS1 semapv:UnspecifiedMatching +OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:6561 semapv:UnspecifiedMatching +OMIM:150570 LGALS1 skos:exactMatch hgnc.symbol:LGALS1 semapv:UnspecifiedMatching OMIM:150570 LGALS1 skos:exactMatch ncbigene:3956 semapv:UnspecifiedMatching -OMIM:150571 LGALS2 skos:exactMatch hgnc:LGALS2 semapv:UnspecifiedMatching +OMIM:150571 LGALS2 skos:exactMatch hgnc.symbol:6562 semapv:UnspecifiedMatching +OMIM:150571 LGALS2 skos:exactMatch hgnc.symbol:LGALS2 semapv:UnspecifiedMatching OMIM:150571 LGALS2 skos:exactMatch ncbigene:3957 semapv:UnspecifiedMatching OMIM:150699 leiomyoma, uterine skos:exactMatch UMLS:C0042133 semapv:UnspecifiedMatching +OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 semapv:UnspecifiedMatching OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS:C1708350 semapv:UnspecifiedMatching -OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch orphanet.ordo:523 semapv:UnspecifiedMatching +OMIM:151100 leopard syndrome 1 skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C0175704 semapv:UnspecifiedMatching OMIM:151100 leopard syndrome 1 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching -OMIM:151100 leopard syndrome 1 skos:exactMatch orphanet.ordo:500 semapv:UnspecifiedMatching +OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch Orphanet:85166 semapv:UnspecifiedMatching OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch UMLS:C1835437 semapv:UnspecifiedMatching -OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia skos:exactMatch orphanet.ordo:85166 semapv:UnspecifiedMatching -OMIM:151290 B3GAT1 skos:exactMatch hgnc:B3GAT1 semapv:UnspecifiedMatching +OMIM:151290 B3GAT1 skos:exactMatch hgnc.symbol:921 semapv:UnspecifiedMatching +OMIM:151290 B3GAT1 skos:exactMatch hgnc.symbol:B3GAT1 semapv:UnspecifiedMatching OMIM:151290 B3GAT1 skos:exactMatch ncbigene:27087 semapv:UnspecifiedMatching -OMIM:151300 LNPEP skos:exactMatch hgnc:LNPEP semapv:UnspecifiedMatching +OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:6656 semapv:UnspecifiedMatching +OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:LNPEP semapv:UnspecifiedMatching OMIM:151300 LNPEP skos:exactMatch ncbigene:4012 semapv:UnspecifiedMatching OMIM:151310 LEUT skos:exactMatch ncbigene:3343 semapv:UnspecifiedMatching OMIM:151350 LARS1 skos:exactMatch UMLS:C1416799 semapv:UnspecifiedMatching OMIM:151350 LARS1 skos:exactMatch UMLS:C3809522 semapv:UnspecifiedMatching -OMIM:151350 LARS1 skos:exactMatch hgnc:LARS1 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch hgnc.symbol:6512 semapv:UnspecifiedMatching +OMIM:151350 LARS1 skos:exactMatch hgnc.symbol:LARS1 semapv:UnspecifiedMatching OMIM:151350 LARS1 skos:exactMatch ncbigene:51520 semapv:UnspecifiedMatching -OMIM:151385 RUNX1 skos:exactMatch hgnc:RUNX1 semapv:UnspecifiedMatching +OMIM:151385 RUNX1 skos:exactMatch hgnc.symbol:10471 semapv:UnspecifiedMatching +OMIM:151385 RUNX1 skos:exactMatch hgnc.symbol:RUNX1 semapv:UnspecifiedMatching OMIM:151385 RUNX1 skos:exactMatch ncbigene:861 semapv:UnspecifiedMatching OMIM:151410 BCR skos:exactMatch UMLS:C0812385 semapv:UnspecifiedMatching -OMIM:151410 BCR skos:exactMatch hgnc:BCR semapv:UnspecifiedMatching +OMIM:151410 BCR skos:exactMatch hgnc.symbol:1014 semapv:UnspecifiedMatching +OMIM:151410 BCR skos:exactMatch hgnc.symbol:BCR semapv:UnspecifiedMatching OMIM:151410 BCR skos:exactMatch ncbigene:613 semapv:UnspecifiedMatching -OMIM:151430 BCL2 skos:exactMatch hgnc:BCL2 semapv:UnspecifiedMatching +OMIM:151430 BCL2 skos:exactMatch hgnc.symbol:990 semapv:UnspecifiedMatching +OMIM:151430 BCL2 skos:exactMatch hgnc.symbol:BCL2 semapv:UnspecifiedMatching OMIM:151430 BCL2 skos:exactMatch ncbigene:596 semapv:UnspecifiedMatching -OMIM:151440 LYL1 skos:exactMatch hgnc:LYL1 semapv:UnspecifiedMatching +OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:6734 semapv:UnspecifiedMatching +OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:LYL1 semapv:UnspecifiedMatching OMIM:151440 LYL1 skos:exactMatch ncbigene:4066 semapv:UnspecifiedMatching OMIM:151441 BCL5 skos:exactMatch ncbigene:603 semapv:UnspecifiedMatching -OMIM:151442 STMN1 skos:exactMatch hgnc:STMN1 semapv:UnspecifiedMatching +OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:6510 semapv:UnspecifiedMatching +OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:STMN1 semapv:UnspecifiedMatching OMIM:151442 STMN1 skos:exactMatch ncbigene:3925 semapv:UnspecifiedMatching -OMIM:151443 LIFR skos:exactMatch hgnc:LIFR semapv:UnspecifiedMatching +OMIM:151443 LIFR skos:exactMatch hgnc.symbol:6597 semapv:UnspecifiedMatching +OMIM:151443 LIFR skos:exactMatch hgnc.symbol:LIFR semapv:UnspecifiedMatching OMIM:151443 LIFR skos:exactMatch ncbigene:3977 semapv:UnspecifiedMatching -OMIM:151445 FCER2 skos:exactMatch hgnc:FCER2 semapv:UnspecifiedMatching +OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:3612 semapv:UnspecifiedMatching +OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:FCER2 semapv:UnspecifiedMatching OMIM:151445 FCER2 skos:exactMatch ncbigene:2208 semapv:UnspecifiedMatching -OMIM:151460 PTPRC skos:exactMatch hgnc:PTPRC semapv:UnspecifiedMatching +OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:9666 semapv:UnspecifiedMatching +OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:PTPRC semapv:UnspecifiedMatching OMIM:151460 PTPRC skos:exactMatch ncbigene:5788 semapv:UnspecifiedMatching -OMIM:151510 ITGAX skos:exactMatch hgnc:ITGAX semapv:UnspecifiedMatching +OMIM:151510 ITGAX skos:exactMatch hgnc.symbol:6152 semapv:UnspecifiedMatching +OMIM:151510 ITGAX skos:exactMatch hgnc.symbol:ITGAX semapv:UnspecifiedMatching OMIM:151510 ITGAX skos:exactMatch ncbigene:3687 semapv:UnspecifiedMatching -OMIM:151520 LTK skos:exactMatch hgnc:LTK semapv:UnspecifiedMatching +OMIM:151520 LTK skos:exactMatch hgnc.symbol:6721 semapv:UnspecifiedMatching +OMIM:151520 LTK skos:exactMatch hgnc.symbol:LTK semapv:UnspecifiedMatching OMIM:151520 LTK skos:exactMatch ncbigene:4058 semapv:UnspecifiedMatching -OMIM:151523 CD37 skos:exactMatch hgnc:CD37 semapv:UnspecifiedMatching +OMIM:151523 CD37 skos:exactMatch hgnc.symbol:1666 semapv:UnspecifiedMatching +OMIM:151523 CD37 skos:exactMatch hgnc.symbol:CD37 semapv:UnspecifiedMatching OMIM:151523 CD37 skos:exactMatch ncbigene:951 semapv:UnspecifiedMatching -OMIM:151525 CD53 skos:exactMatch hgnc:CD53 semapv:UnspecifiedMatching +OMIM:151525 CD53 skos:exactMatch hgnc.symbol:1686 semapv:UnspecifiedMatching +OMIM:151525 CD53 skos:exactMatch hgnc.symbol:CD53 semapv:UnspecifiedMatching OMIM:151525 CD53 skos:exactMatch ncbigene:963 semapv:UnspecifiedMatching -OMIM:151530 ANPEP skos:exactMatch hgnc:ANPEP semapv:UnspecifiedMatching +OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:500 semapv:UnspecifiedMatching +OMIM:151530 ANPEP skos:exactMatch hgnc.symbol:ANPEP semapv:UnspecifiedMatching OMIM:151530 ANPEP skos:exactMatch ncbigene:290 semapv:UnspecifiedMatching -OMIM:151570 LTA4H skos:exactMatch hgnc:LTA4H semapv:UnspecifiedMatching +OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:6710 semapv:UnspecifiedMatching +OMIM:151570 LTA4H skos:exactMatch hgnc.symbol:LTA4H semapv:UnspecifiedMatching OMIM:151570 LTA4H skos:exactMatch ncbigene:4048 semapv:UnspecifiedMatching +OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch Orphanet:2387 semapv:UnspecifiedMatching OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch UMLS:C0544855 semapv:UnspecifiedMatching -OMIM:151600 nail disorder, nonsyndromic congenital, 3 skos:exactMatch orphanet.ordo:2387 semapv:UnspecifiedMatching -OMIM:151625 LGTN skos:exactMatch hgnc:LGTN semapv:UnspecifiedMatching +OMIM:151625 LGTN skos:exactMatch hgnc.symbol:39494 semapv:UnspecifiedMatching +OMIM:151625 LGTN skos:exactMatch hgnc.symbol:LGTN semapv:UnspecifiedMatching OMIM:151625 LGTN skos:exactMatch ncbigene:100529141 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch UMLS:C1416867 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch UMLS:C2675071 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch UMLS:C3151466 semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:151670 LIPC skos:exactMatch hgnc:LIPC semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch hgnc.symbol:6619 semapv:UnspecifiedMatching +OMIM:151670 LIPC skos:exactMatch hgnc.symbol:LIPC semapv:UnspecifiedMatching OMIM:151670 LIPC skos:exactMatch ncbigene:3990 semapv:UnspecifiedMatching -OMIM:151675 LCN1 skos:exactMatch hgnc:LCN1 semapv:UnspecifiedMatching +OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:6525 semapv:UnspecifiedMatching +OMIM:151675 LCN1 skos:exactMatch hgnc.symbol:LCN1 semapv:UnspecifiedMatching OMIM:151675 LCN1 skos:exactMatch ncbigene:3933 semapv:UnspecifiedMatching -OMIM:151690 ANXA1 skos:exactMatch hgnc:ANXA1 semapv:UnspecifiedMatching +OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:533 semapv:UnspecifiedMatching +OMIM:151690 ANXA1 skos:exactMatch hgnc.symbol:ANXA1 semapv:UnspecifiedMatching OMIM:151690 ANXA1 skos:exactMatch ncbigene:301 semapv:UnspecifiedMatching -OMIM:151740 ANXA2 skos:exactMatch hgnc:ANXA2 semapv:UnspecifiedMatching +OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:537 semapv:UnspecifiedMatching +OMIM:151740 ANXA2 skos:exactMatch hgnc.symbol:ANXA2 semapv:UnspecifiedMatching OMIM:151740 ANXA2 skos:exactMatch ncbigene:302 semapv:UnspecifiedMatching -OMIM:151750 LIPE skos:exactMatch hgnc:LIPE semapv:UnspecifiedMatching +OMIM:151750 LIPE skos:exactMatch hgnc.symbol:6621 semapv:UnspecifiedMatching +OMIM:151750 LIPE skos:exactMatch hgnc.symbol:LIPE semapv:UnspecifiedMatching OMIM:151750 LIPE skos:exactMatch ncbigene:3991 semapv:UnspecifiedMatching +OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch Orphanet:2398 semapv:UnspecifiedMatching OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch UMLS:C0023804 semapv:UnspecifiedMatching -OMIM:151800 lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy skos:exactMatch orphanet.ordo:2398 semapv:UnspecifiedMatching -OMIM:151990 LBP skos:exactMatch hgnc:LBP semapv:UnspecifiedMatching +OMIM:151990 LBP skos:exactMatch hgnc.symbol:6517 semapv:UnspecifiedMatching +OMIM:151990 LBP skos:exactMatch hgnc.symbol:LBP semapv:UnspecifiedMatching OMIM:151990 LBP skos:exactMatch ncbigene:3929 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C0065058 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C1835362 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C4016245 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C4016246 semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch UMLS:C5436941 semapv:UnspecifiedMatching -OMIM:152200 LPA skos:exactMatch hgnc:LPA semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch hgnc.symbol:6667 semapv:UnspecifiedMatching +OMIM:152200 LPA skos:exactMatch hgnc.symbol:LPA semapv:UnspecifiedMatching OMIM:152200 LPA skos:exactMatch ncbigene:4018 semapv:UnspecifiedMatching -OMIM:152310 TFPI skos:exactMatch hgnc:TFPI semapv:UnspecifiedMatching +OMIM:152310 TFPI skos:exactMatch hgnc.symbol:11760 semapv:UnspecifiedMatching +OMIM:152310 TFPI skos:exactMatch hgnc.symbol:TFPI semapv:UnspecifiedMatching OMIM:152310 TFPI skos:exactMatch ncbigene:7035 semapv:UnspecifiedMatching -OMIM:152390 ALOX5 skos:exactMatch hgnc:ALOX5 semapv:UnspecifiedMatching +OMIM:152390 ALOX5 skos:exactMatch hgnc.symbol:435 semapv:UnspecifiedMatching +OMIM:152390 ALOX5 skos:exactMatch hgnc.symbol:ALOX5 semapv:UnspecifiedMatching OMIM:152390 ALOX5 skos:exactMatch ncbigene:240 semapv:UnspecifiedMatching -OMIM:152391 ALOX12 skos:exactMatch hgnc:ALOX12 semapv:UnspecifiedMatching +OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:429 semapv:UnspecifiedMatching +OMIM:152391 ALOX12 skos:exactMatch hgnc.symbol:ALOX12 semapv:UnspecifiedMatching OMIM:152391 ALOX12 skos:exactMatch ncbigene:239 semapv:UnspecifiedMatching OMIM:152392 ALOX15 skos:exactMatch UMLS:C1332082 semapv:UnspecifiedMatching OMIM:152392 ALOX15 skos:exactMatch UMLS:C5193165 semapv:UnspecifiedMatching -OMIM:152392 ALOX15 skos:exactMatch hgnc:ALOX15 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:433 semapv:UnspecifiedMatching +OMIM:152392 ALOX15 skos:exactMatch hgnc.symbol:ALOX15 semapv:UnspecifiedMatching OMIM:152392 ALOX15 skos:exactMatch ncbigene:246 semapv:UnspecifiedMatching OMIM:152424 locus control region, beta skos:exactMatch ncbigene:109580095 semapv:UnspecifiedMatching -OMIM:152425 ACSL1 skos:exactMatch hgnc:ACSL1 semapv:UnspecifiedMatching +OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:3569 semapv:UnspecifiedMatching +OMIM:152425 ACSL1 skos:exactMatch hgnc.symbol:ACSL1 semapv:UnspecifiedMatching OMIM:152425 ACSL1 skos:exactMatch ncbigene:2180 semapv:UnspecifiedMatching -OMIM:152427 KCNH2 skos:exactMatch hgnc:KCNH2 semapv:UnspecifiedMatching +OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:6251 semapv:UnspecifiedMatching +OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:KCNH2 semapv:UnspecifiedMatching OMIM:152427 KCNH2 skos:exactMatch ncbigene:3757 semapv:UnspecifiedMatching -OMIM:152445 LOR skos:exactMatch hgnc:LORICRIN semapv:UnspecifiedMatching +OMIM:152445 LOR skos:exactMatch hgnc.symbol:6663 semapv:UnspecifiedMatching +OMIM:152445 LOR skos:exactMatch hgnc.symbol:LORICRIN semapv:UnspecifiedMatching OMIM:152445 LOR skos:exactMatch ncbigene:4014 semapv:UnspecifiedMatching -OMIM:152690 XRCC6 skos:exactMatch hgnc:XRCC6 semapv:UnspecifiedMatching +OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:4055 semapv:UnspecifiedMatching +OMIM:152690 XRCC6 skos:exactMatch hgnc.symbol:XRCC6 semapv:UnspecifiedMatching OMIM:152690 XRCC6 skos:exactMatch ncbigene:2547 semapv:UnspecifiedMatching OMIM:152700 systemic lupus erythematosus skos:exactMatch UMLS:C0024141 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch UMLS:C1415169 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch UMLS:C4016249 semapv:UnspecifiedMatching -OMIM:152760 GNRH1 skos:exactMatch hgnc:GNRH1 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:4419 semapv:UnspecifiedMatching +OMIM:152760 GNRH1 skos:exactMatch hgnc.symbol:GNRH1 semapv:UnspecifiedMatching OMIM:152760 GNRH1 skos:exactMatch ncbigene:2796 semapv:UnspecifiedMatching -OMIM:152780 LHB skos:exactMatch hgnc:LHB semapv:UnspecifiedMatching +OMIM:152780 LHB skos:exactMatch hgnc.symbol:6584 semapv:UnspecifiedMatching +OMIM:152780 LHB skos:exactMatch hgnc.symbol:LHB semapv:UnspecifiedMatching OMIM:152780 LHB skos:exactMatch ncbigene:3972 semapv:UnspecifiedMatching -OMIM:152790 LHCGR skos:exactMatch hgnc:LHCGR semapv:UnspecifiedMatching +OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:6585 semapv:UnspecifiedMatching +OMIM:152790 LHCGR skos:exactMatch hgnc.symbol:LHCGR semapv:UnspecifiedMatching OMIM:152790 LHCGR skos:exactMatch ncbigene:3973 semapv:UnspecifiedMatching +OMIM:153100 lymphatic malformation 1 skos:exactMatch Orphanet:79452 semapv:UnspecifiedMatching OMIM:153100 lymphatic malformation 1 skos:exactMatch UMLS:C1704423 semapv:UnspecifiedMatching -OMIM:153100 lymphatic malformation 1 skos:exactMatch orphanet.ordo:79452 semapv:UnspecifiedMatching -OMIM:153240 SELL skos:exactMatch hgnc:SELL semapv:UnspecifiedMatching +OMIM:153240 SELL skos:exactMatch hgnc.symbol:10720 semapv:UnspecifiedMatching +OMIM:153240 SELL skos:exactMatch hgnc.symbol:SELL semapv:UnspecifiedMatching OMIM:153240 SELL skos:exactMatch ncbigene:6402 semapv:UnspecifiedMatching -OMIM:153243 TNFRSF8 skos:exactMatch hgnc:TNFRSF8 semapv:UnspecifiedMatching +OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:11923 semapv:UnspecifiedMatching +OMIM:153243 TNFRSF8 skos:exactMatch hgnc.symbol:TNFRSF8 semapv:UnspecifiedMatching OMIM:153243 TNFRSF8 skos:exactMatch ncbigene:943 semapv:UnspecifiedMatching -OMIM:153245 LEF1 skos:exactMatch hgnc:LEF1 semapv:UnspecifiedMatching +OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:6551 semapv:UnspecifiedMatching +OMIM:153245 LEF1 skos:exactMatch hgnc.symbol:LEF1 semapv:UnspecifiedMatching OMIM:153245 LEF1 skos:exactMatch ncbigene:51176 semapv:UnspecifiedMatching -OMIM:153310 CLC skos:exactMatch hgnc:CLC semapv:UnspecifiedMatching +OMIM:153310 CLC skos:exactMatch hgnc.symbol:2014 semapv:UnspecifiedMatching +OMIM:153310 CLC skos:exactMatch hgnc.symbol:CLC semapv:UnspecifiedMatching OMIM:153310 CLC skos:exactMatch ncbigene:1178 semapv:UnspecifiedMatching -OMIM:153330 LAMP1 skos:exactMatch hgnc:LAMP1 semapv:UnspecifiedMatching +OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:6499 semapv:UnspecifiedMatching +OMIM:153330 LAMP1 skos:exactMatch hgnc.symbol:LAMP1 semapv:UnspecifiedMatching OMIM:153330 LAMP1 skos:exactMatch ncbigene:3916 semapv:UnspecifiedMatching -OMIM:153337 LAG3 skos:exactMatch hgnc:LAG3 semapv:UnspecifiedMatching +OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:6476 semapv:UnspecifiedMatching +OMIM:153337 LAG3 skos:exactMatch hgnc.symbol:LAG3 semapv:UnspecifiedMatching OMIM:153337 LAG3 skos:exactMatch ncbigene:3902 semapv:UnspecifiedMatching -OMIM:153340 CD5 skos:exactMatch hgnc:CD5 semapv:UnspecifiedMatching +OMIM:153340 CD5 skos:exactMatch hgnc.symbol:1685 semapv:UnspecifiedMatching +OMIM:153340 CD5 skos:exactMatch hgnc.symbol:CD5 semapv:UnspecifiedMatching OMIM:153340 CD5 skos:exactMatch ncbigene:921 semapv:UnspecifiedMatching -OMIM:153370 ITGAL skos:exactMatch hgnc:ITGAL semapv:UnspecifiedMatching +OMIM:153370 ITGAL skos:exactMatch hgnc.symbol:6148 semapv:UnspecifiedMatching +OMIM:153370 ITGAL skos:exactMatch hgnc.symbol:ITGAL semapv:UnspecifiedMatching OMIM:153370 ITGAL skos:exactMatch ncbigene:3683 semapv:UnspecifiedMatching OMIM:153380 lymphocyte cytosol polypeptide, 20-kd skos:exactMatch ncbigene:7938 semapv:UnspecifiedMatching -OMIM:153390 LCK skos:exactMatch hgnc:LCK semapv:UnspecifiedMatching +OMIM:153390 LCK skos:exactMatch hgnc.symbol:6524 semapv:UnspecifiedMatching +OMIM:153390 LCK skos:exactMatch hgnc.symbol:LCK semapv:UnspecifiedMatching OMIM:153390 LCK skos:exactMatch ncbigene:3932 semapv:UnspecifiedMatching OMIM:153420 CD58 skos:exactMatch UMLS:C1332715 semapv:UnspecifiedMatching -OMIM:153420 CD58 skos:exactMatch hgnc:CD58 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch hgnc.symbol:1688 semapv:UnspecifiedMatching +OMIM:153420 CD58 skos:exactMatch hgnc.symbol:CD58 semapv:UnspecifiedMatching OMIM:153420 CD58 skos:exactMatch ncbigene:965 semapv:UnspecifiedMatching -OMIM:153430 LCP1 skos:exactMatch hgnc:LCP1 semapv:UnspecifiedMatching +OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:6528 semapv:UnspecifiedMatching +OMIM:153430 LCP1 skos:exactMatch hgnc.symbol:LCP1 semapv:UnspecifiedMatching OMIM:153430 LCP1 skos:exactMatch ncbigene:3936 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch UMLS:C1416925 semapv:UnspecifiedMatching -OMIM:153432 LSP1 skos:exactMatch hgnc:LSP1 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:6707 semapv:UnspecifiedMatching +OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:LSP1 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch ncbigene:4046 semapv:UnspecifiedMatching OMIM:153435 LAKL skos:exactMatch ncbigene:3905 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C0812308 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C1835223 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C2750103 semapv:UnspecifiedMatching -OMIM:153440 LTA skos:exactMatch hgnc:LTA semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch hgnc.symbol:6709 semapv:UnspecifiedMatching +OMIM:153440 LTA skos:exactMatch hgnc.symbol:LTA semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch ncbigene:4049 semapv:UnspecifiedMatching -OMIM:153450 LYZ skos:exactMatch hgnc:LYZ semapv:UnspecifiedMatching +OMIM:153450 LYZ skos:exactMatch hgnc.symbol:6740 semapv:UnspecifiedMatching +OMIM:153450 LYZ skos:exactMatch hgnc.symbol:LYZ semapv:UnspecifiedMatching OMIM:153450 LYZ skos:exactMatch ncbigene:4069 semapv:UnspecifiedMatching -OMIM:153454 PLOD1 skos:exactMatch hgnc:PLOD1 semapv:UnspecifiedMatching +OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:9081 semapv:UnspecifiedMatching +OMIM:153454 PLOD1 skos:exactMatch hgnc.symbol:PLOD1 semapv:UnspecifiedMatching OMIM:153454 PLOD1 skos:exactMatch ncbigene:5351 semapv:UnspecifiedMatching OMIM:153455 LOX skos:exactMatch UMLS:C1334349 semapv:UnspecifiedMatching OMIM:153455 LOX skos:exactMatch UMLS:C4016254 semapv:UnspecifiedMatching OMIM:153455 LOX skos:exactMatch UMLS:C4284414 semapv:UnspecifiedMatching -OMIM:153455 LOX skos:exactMatch hgnc:LOX semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch hgnc.symbol:6664 semapv:UnspecifiedMatching +OMIM:153455 LOX skos:exactMatch hgnc.symbol:LOX semapv:UnspecifiedMatching OMIM:153455 LOX skos:exactMatch ncbigene:4015 semapv:UnspecifiedMatching -OMIM:153456 LOXL1 skos:exactMatch hgnc:LOXL1 semapv:UnspecifiedMatching +OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:6665 semapv:UnspecifiedMatching +OMIM:153456 LOXL1 skos:exactMatch hgnc.symbol:LOXL1 semapv:UnspecifiedMatching OMIM:153456 LOXL1 skos:exactMatch ncbigene:4016 semapv:UnspecifiedMatching +OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch Orphanet:33226 semapv:UnspecifiedMatching OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch UMLS:C1835192 semapv:UnspecifiedMatching -OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 skos:exactMatch orphanet.ordo:33226 semapv:UnspecifiedMatching -OMIM:153615 CAPG skos:exactMatch hgnc:CAPG semapv:UnspecifiedMatching +OMIM:153615 CAPG skos:exactMatch hgnc.symbol:1474 semapv:UnspecifiedMatching +OMIM:153615 CAPG skos:exactMatch hgnc.symbol:CAPG semapv:UnspecifiedMatching OMIM:153615 CAPG skos:exactMatch ncbigene:822 semapv:UnspecifiedMatching -OMIM:153618 MRC1 skos:exactMatch hgnc:MRC1 semapv:UnspecifiedMatching +OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:7228 semapv:UnspecifiedMatching +OMIM:153618 MRC1 skos:exactMatch hgnc.symbol:MRC1 semapv:UnspecifiedMatching OMIM:153618 MRC1 skos:exactMatch ncbigene:4360 semapv:UnspecifiedMatching OMIM:153619 LGALS3 skos:exactMatch UMLS:C1416831 semapv:UnspecifiedMatching -OMIM:153619 LGALS3 skos:exactMatch hgnc:LGALS3 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:6563 semapv:UnspecifiedMatching +OMIM:153619 LGALS3 skos:exactMatch hgnc.symbol:LGALS3 semapv:UnspecifiedMatching OMIM:153619 LGALS3 skos:exactMatch ncbigene:3958 semapv:UnspecifiedMatching -OMIM:153620 MIF skos:exactMatch hgnc:MIF semapv:UnspecifiedMatching +OMIM:153620 MIF skos:exactMatch hgnc.symbol:7097 semapv:UnspecifiedMatching +OMIM:153620 MIF skos:exactMatch hgnc.symbol:MIF semapv:UnspecifiedMatching OMIM:153620 MIF skos:exactMatch ncbigene:4282 semapv:UnspecifiedMatching -OMIM:153622 MSR1 skos:exactMatch hgnc:MSR1 semapv:UnspecifiedMatching +OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:7376 semapv:UnspecifiedMatching +OMIM:153622 MSR1 skos:exactMatch hgnc.symbol:MSR1 semapv:UnspecifiedMatching OMIM:153622 MSR1 skos:exactMatch ncbigene:4481 semapv:UnspecifiedMatching -OMIM:153634 CD68 skos:exactMatch hgnc:CD68 semapv:UnspecifiedMatching +OMIM:153634 CD68 skos:exactMatch hgnc.symbol:1693 semapv:UnspecifiedMatching +OMIM:153634 CD68 skos:exactMatch hgnc.symbol:CD68 semapv:UnspecifiedMatching OMIM:153634 CD68 skos:exactMatch ncbigene:968 semapv:UnspecifiedMatching OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching -OMIM:154030 YBX1 skos:exactMatch hgnc:YBX1 semapv:UnspecifiedMatching +OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:8014 semapv:UnspecifiedMatching +OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:YBX1 semapv:UnspecifiedMatching OMIM:154030 YBX1 skos:exactMatch ncbigene:4904 semapv:UnspecifiedMatching -OMIM:154040 NELFE skos:exactMatch hgnc:NELFE semapv:UnspecifiedMatching +OMIM:154040 NELFE skos:exactMatch hgnc.symbol:13974 semapv:UnspecifiedMatching +OMIM:154040 NELFE skos:exactMatch hgnc.symbol:NELFE semapv:UnspecifiedMatching OMIM:154040 NELFE skos:exactMatch ncbigene:7936 semapv:UnspecifiedMatching -OMIM:154045 LIM2 skos:exactMatch hgnc:LIM2 semapv:UnspecifiedMatching +OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:6610 semapv:UnspecifiedMatching +OMIM:154045 LIM2 skos:exactMatch hgnc.symbol:LIM2 semapv:UnspecifiedMatching OMIM:154045 LIM2 skos:exactMatch ncbigene:3982 semapv:UnspecifiedMatching -OMIM:154050 MIP skos:exactMatch hgnc:MIP semapv:UnspecifiedMatching +OMIM:154050 MIP skos:exactMatch hgnc.symbol:7103 semapv:UnspecifiedMatching +OMIM:154050 MIP skos:exactMatch hgnc.symbol:MIP semapv:UnspecifiedMatching OMIM:154050 MIP skos:exactMatch ncbigene:4284 semapv:UnspecifiedMatching OMIM:154100 MDH2 skos:exactMatch UMLS:C1417088 semapv:UnspecifiedMatching OMIM:154100 MDH2 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching -OMIM:154100 MDH2 skos:exactMatch hgnc:MDH2 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:6971 semapv:UnspecifiedMatching +OMIM:154100 MDH2 skos:exactMatch hgnc.symbol:MDH2 semapv:UnspecifiedMatching OMIM:154100 MDH2 skos:exactMatch ncbigene:4191 semapv:UnspecifiedMatching OMIM:154200 MDH1 skos:exactMatch UMLS:C1417087 semapv:UnspecifiedMatching OMIM:154200 MDH1 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching -OMIM:154200 MDH1 skos:exactMatch hgnc:MDH1 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:6970 semapv:UnspecifiedMatching +OMIM:154200 MDH1 skos:exactMatch hgnc.symbol:MDH1 semapv:UnspecifiedMatching OMIM:154200 MDH1 skos:exactMatch ncbigene:4190 semapv:UnspecifiedMatching -OMIM:154235 MAK skos:exactMatch hgnc:MAK semapv:UnspecifiedMatching +OMIM:154235 MAK skos:exactMatch hgnc.symbol:6816 semapv:UnspecifiedMatching +OMIM:154235 MAK skos:exactMatch hgnc.symbol:MAK semapv:UnspecifiedMatching OMIM:154235 MAK skos:exactMatch ncbigene:4117 semapv:UnspecifiedMatching -OMIM:154250 ME1 skos:exactMatch hgnc:ME1 semapv:UnspecifiedMatching +OMIM:154250 ME1 skos:exactMatch hgnc.symbol:6983 semapv:UnspecifiedMatching +OMIM:154250 ME1 skos:exactMatch hgnc.symbol:ME1 semapv:UnspecifiedMatching OMIM:154250 ME1 skos:exactMatch ncbigene:4199 semapv:UnspecifiedMatching -OMIM:154270 ME2 skos:exactMatch hgnc:ME2 semapv:UnspecifiedMatching +OMIM:154270 ME2 skos:exactMatch hgnc.symbol:6984 semapv:UnspecifiedMatching +OMIM:154270 ME2 skos:exactMatch hgnc.symbol:ME2 semapv:UnspecifiedMatching OMIM:154270 ME2 skos:exactMatch ncbigene:4200 semapv:UnspecifiedMatching OMIM:154280 SAI1 skos:exactMatch ncbigene:6298 semapv:UnspecifiedMatching -OMIM:154360 MGAM skos:exactMatch hgnc:MGAM semapv:UnspecifiedMatching +OMIM:154360 MGAM skos:exactMatch hgnc.symbol:7043 semapv:UnspecifiedMatching +OMIM:154360 MGAM skos:exactMatch hgnc.symbol:MGAM semapv:UnspecifiedMatching OMIM:154360 MGAM skos:exactMatch ncbigene:8972 semapv:UnspecifiedMatching -OMIM:154365 PSMC2 skos:exactMatch hgnc:PSMC2 semapv:UnspecifiedMatching +OMIM:154365 PSMC2 skos:exactMatch hgnc.symbol:9548 semapv:UnspecifiedMatching +OMIM:154365 PSMC2 skos:exactMatch hgnc.symbol:PSMC2 semapv:UnspecifiedMatching OMIM:154365 PSMC2 skos:exactMatch ncbigene:5701 semapv:UnspecifiedMatching +OMIM:154500 treacher collins syndrome 1 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching OMIM:154500 treacher collins syndrome 1 skos:exactMatch UMLS:C0242387 semapv:UnspecifiedMatching -OMIM:154500 treacher collins syndrome 1 skos:exactMatch orphanet.ordo:861 semapv:UnspecifiedMatching -OMIM:154540 M6PR skos:exactMatch hgnc:M6PR semapv:UnspecifiedMatching +OMIM:154540 M6PR skos:exactMatch hgnc.symbol:6752 semapv:UnspecifiedMatching +OMIM:154540 M6PR skos:exactMatch hgnc.symbol:M6PR semapv:UnspecifiedMatching OMIM:154540 M6PR skos:exactMatch ncbigene:4074 semapv:UnspecifiedMatching -OMIM:154545 MBL2 skos:exactMatch hgnc:MBL2 semapv:UnspecifiedMatching +OMIM:154545 MBL2 skos:exactMatch hgnc.symbol:6922 semapv:UnspecifiedMatching +OMIM:154545 MBL2 skos:exactMatch hgnc.symbol:MBL2 semapv:UnspecifiedMatching OMIM:154545 MBL2 skos:exactMatch ncbigene:4153 semapv:UnspecifiedMatching -OMIM:154550 MPI skos:exactMatch hgnc:MPI semapv:UnspecifiedMatching +OMIM:154550 MPI skos:exactMatch hgnc.symbol:7216 semapv:UnspecifiedMatching +OMIM:154550 MPI skos:exactMatch hgnc.symbol:MPI semapv:UnspecifiedMatching OMIM:154550 MPI skos:exactMatch ncbigene:4351 semapv:UnspecifiedMatching -OMIM:154580 MAN2C1 skos:exactMatch hgnc:MAN2C1 semapv:UnspecifiedMatching +OMIM:154580 MAN2C1 skos:exactMatch hgnc.symbol:6827 semapv:UnspecifiedMatching +OMIM:154580 MAN2C1 skos:exactMatch hgnc.symbol:MAN2C1 semapv:UnspecifiedMatching OMIM:154580 MAN2C1 skos:exactMatch ncbigene:4123 semapv:UnspecifiedMatching -OMIM:154582 MAN2A1 skos:exactMatch hgnc:MAN2A1 semapv:UnspecifiedMatching +OMIM:154582 MAN2A1 skos:exactMatch hgnc.symbol:6824 semapv:UnspecifiedMatching +OMIM:154582 MAN2A1 skos:exactMatch hgnc.symbol:MAN2A1 semapv:UnspecifiedMatching OMIM:154582 MAN2A1 skos:exactMatch ncbigene:4124 semapv:UnspecifiedMatching +OMIM:154780 marshall syndrome skos:exactMatch Orphanet:560 semapv:UnspecifiedMatching OMIM:154780 marshall syndrome skos:exactMatch UMLS:C0265235 semapv:UnspecifiedMatching -OMIM:154780 marshall syndrome skos:exactMatch orphanet.ordo:560 semapv:UnspecifiedMatching -OMIM:154790 PI5 skos:exactMatch hgnc:SERPINB5 semapv:UnspecifiedMatching +OMIM:154790 PI5 skos:exactMatch hgnc.symbol:8949 semapv:UnspecifiedMatching +OMIM:154790 PI5 skos:exactMatch hgnc.symbol:SERPINB5 semapv:UnspecifiedMatching OMIM:154790 PI5 skos:exactMatch ncbigene:5268 semapv:UnspecifiedMatching -OMIM:154870 MGP skos:exactMatch hgnc:MGP semapv:UnspecifiedMatching +OMIM:154870 MGP skos:exactMatch hgnc.symbol:7060 semapv:UnspecifiedMatching +OMIM:154870 MGP skos:exactMatch hgnc.symbol:MGP semapv:UnspecifiedMatching OMIM:154870 MGP skos:exactMatch ncbigene:4256 semapv:UnspecifiedMatching -OMIM:154950 MAX skos:exactMatch hgnc:MAX semapv:UnspecifiedMatching +OMIM:154950 MAX skos:exactMatch hgnc.symbol:6913 semapv:UnspecifiedMatching +OMIM:154950 MAX skos:exactMatch hgnc.symbol:MAX semapv:UnspecifiedMatching OMIM:154950 MAX skos:exactMatch ncbigene:4149 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 semapv:UnspecifiedMatching +OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:850 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0340978 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0398641 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C0403445 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1842035 semapv:UnspecifiedMatching OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch UMLS:C1854520 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch orphanet.ordo:182050 semapv:UnspecifiedMatching -OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch orphanet.ordo:850 semapv:UnspecifiedMatching -OMIM:155120 ADAM11 skos:exactMatch hgnc:ADAM11 semapv:UnspecifiedMatching +OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:189 semapv:UnspecifiedMatching +OMIM:155120 ADAM11 skos:exactMatch hgnc.symbol:ADAM11 semapv:UnspecifiedMatching OMIM:155120 ADAM11 skos:exactMatch ncbigene:4185 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251858 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251863 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:251867 semapv:UnspecifiedMatching +OMIM:155255 medulloblastoma skos:exactMatch Orphanet:616 semapv:UnspecifiedMatching OMIM:155255 medulloblastoma skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching OMIM:155255 medulloblastoma skos:exactMatch UMLS:C1334970 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch orphanet.ordo:251858 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch orphanet.ordo:251863 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch orphanet.ordo:251867 semapv:UnspecifiedMatching -OMIM:155255 medulloblastoma skos:exactMatch orphanet.ordo:616 semapv:UnspecifiedMatching -OMIM:155540 MC3R skos:exactMatch hgnc:MC3R semapv:UnspecifiedMatching +OMIM:155540 MC3R skos:exactMatch hgnc.symbol:6931 semapv:UnspecifiedMatching +OMIM:155540 MC3R skos:exactMatch hgnc.symbol:MC3R semapv:UnspecifiedMatching OMIM:155540 MC3R skos:exactMatch ncbigene:4159 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C1417064 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C5193151 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C5193166 semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch UMLS:C5193167 semapv:UnspecifiedMatching -OMIM:155541 MC4R skos:exactMatch hgnc:MC4R semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch hgnc.symbol:6932 semapv:UnspecifiedMatching +OMIM:155541 MC4R skos:exactMatch hgnc.symbol:MC4R semapv:UnspecifiedMatching OMIM:155541 MC4R skos:exactMatch ncbigene:4160 semapv:UnspecifiedMatching OMIM:155550 PMEL skos:exactMatch UMLS:C1420066 semapv:UnspecifiedMatching -OMIM:155550 PMEL skos:exactMatch hgnc:PMEL semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch hgnc.symbol:10880 semapv:UnspecifiedMatching +OMIM:155550 PMEL skos:exactMatch hgnc.symbol:PMEL semapv:UnspecifiedMatching OMIM:155550 PMEL skos:exactMatch ncbigene:6490 semapv:UnspecifiedMatching -OMIM:155555 MC1R skos:exactMatch hgnc:MC1R semapv:UnspecifiedMatching +OMIM:155555 MC1R skos:exactMatch hgnc.symbol:6929 semapv:UnspecifiedMatching +OMIM:155555 MC1R skos:exactMatch hgnc.symbol:MC1R semapv:UnspecifiedMatching OMIM:155555 MC1R skos:exactMatch ncbigene:4157 semapv:UnspecifiedMatching -OMIM:155730 CXCL1 skos:exactMatch hgnc:CXCL1 semapv:UnspecifiedMatching +OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:4602 semapv:UnspecifiedMatching +OMIM:155730 CXCL1 skos:exactMatch hgnc.symbol:CXCL1 semapv:UnspecifiedMatching OMIM:155730 CXCL1 skos:exactMatch ncbigene:2919 semapv:UnspecifiedMatching -OMIM:155735 MCAM skos:exactMatch hgnc:MCAM semapv:UnspecifiedMatching +OMIM:155735 MCAM skos:exactMatch hgnc.symbol:6934 semapv:UnspecifiedMatching +OMIM:155735 MCAM skos:exactMatch hgnc.symbol:MCAM semapv:UnspecifiedMatching OMIM:155735 MCAM skos:exactMatch ncbigene:4162 semapv:UnspecifiedMatching -OMIM:155740 CD63 skos:exactMatch hgnc:CD63 semapv:UnspecifiedMatching +OMIM:155740 CD63 skos:exactMatch hgnc.symbol:1692 semapv:UnspecifiedMatching +OMIM:155740 CD63 skos:exactMatch hgnc.symbol:CD63 semapv:UnspecifiedMatching OMIM:155740 CD63 skos:exactMatch ncbigene:967 semapv:UnspecifiedMatching -OMIM:155750 MELTF skos:exactMatch hgnc:MELTF semapv:UnspecifiedMatching +OMIM:155750 MELTF skos:exactMatch hgnc.symbol:7037 semapv:UnspecifiedMatching +OMIM:155750 MELTF skos:exactMatch hgnc.symbol:MELTF semapv:UnspecifiedMatching OMIM:155750 MELTF skos:exactMatch ncbigene:4241 semapv:UnspecifiedMatching -OMIM:155760 ACAN skos:exactMatch hgnc:ACAN semapv:UnspecifiedMatching +OMIM:155760 ACAN skos:exactMatch hgnc.symbol:319 semapv:UnspecifiedMatching +OMIM:155760 ACAN skos:exactMatch hgnc.symbol:ACAN semapv:UnspecifiedMatching OMIM:155760 ACAN skos:exactMatch ncbigene:176 semapv:UnspecifiedMatching +OMIM:155950 melorheostosis, isolated skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching OMIM:155950 melorheostosis, isolated skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching -OMIM:155950 melorheostosis, isolated skos:exactMatch orphanet.ordo:2485 semapv:UnspecifiedMatching -OMIM:155970 MOX2 skos:exactMatch hgnc:CD200 semapv:UnspecifiedMatching +OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:7203 semapv:UnspecifiedMatching +OMIM:155970 MOX2 skos:exactMatch hgnc.symbol:CD200 semapv:UnspecifiedMatching OMIM:155970 MOX2 skos:exactMatch ncbigene:4345 semapv:UnspecifiedMatching OMIM:156100 MN1 skos:exactMatch UMLS:C1417217 semapv:UnspecifiedMatching OMIM:156100 MN1 skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching -OMIM:156100 MN1 skos:exactMatch hgnc:MN1 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch hgnc.symbol:7180 semapv:UnspecifiedMatching +OMIM:156100 MN1 skos:exactMatch hgnc.symbol:MN1 semapv:UnspecifiedMatching OMIM:156100 MN1 skos:exactMatch ncbigene:4330 semapv:UnspecifiedMatching -OMIM:156225 LAMA2 skos:exactMatch hgnc:LAMA2 semapv:UnspecifiedMatching +OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:6482 semapv:UnspecifiedMatching +OMIM:156225 LAMA2 skos:exactMatch hgnc.symbol:LAMA2 semapv:UnspecifiedMatching OMIM:156225 LAMA2 skos:exactMatch ncbigene:3908 semapv:UnspecifiedMatching +OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch UMLS:C1835007 semapv:UnspecifiedMatching -OMIM:156310 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a skos:exactMatch orphanet.ordo:512 semapv:UnspecifiedMatching -OMIM:156349 MT1B skos:exactMatch hgnc:MT1B semapv:UnspecifiedMatching +OMIM:156349 MT1B skos:exactMatch hgnc.symbol:7394 semapv:UnspecifiedMatching +OMIM:156349 MT1B skos:exactMatch hgnc.symbol:MT1B semapv:UnspecifiedMatching OMIM:156349 MT1B skos:exactMatch ncbigene:4490 semapv:UnspecifiedMatching -OMIM:156350 MT1A skos:exactMatch hgnc:MT1A semapv:UnspecifiedMatching +OMIM:156350 MT1A skos:exactMatch hgnc.symbol:7393 semapv:UnspecifiedMatching +OMIM:156350 MT1A skos:exactMatch hgnc.symbol:MT1A semapv:UnspecifiedMatching OMIM:156350 MT1A skos:exactMatch ncbigene:4489 semapv:UnspecifiedMatching -OMIM:156351 MT1E skos:exactMatch hgnc:MT1E semapv:UnspecifiedMatching +OMIM:156351 MT1E skos:exactMatch hgnc.symbol:7397 semapv:UnspecifiedMatching +OMIM:156351 MT1E skos:exactMatch hgnc.symbol:MT1E semapv:UnspecifiedMatching OMIM:156351 MT1E skos:exactMatch ncbigene:4493 semapv:UnspecifiedMatching -OMIM:156352 MT1F skos:exactMatch hgnc:MT1F semapv:UnspecifiedMatching +OMIM:156352 MT1F skos:exactMatch hgnc.symbol:7398 semapv:UnspecifiedMatching +OMIM:156352 MT1F skos:exactMatch hgnc.symbol:MT1F semapv:UnspecifiedMatching OMIM:156352 MT1F skos:exactMatch ncbigene:4494 semapv:UnspecifiedMatching -OMIM:156353 MT1G skos:exactMatch hgnc:MT1G semapv:UnspecifiedMatching +OMIM:156353 MT1G skos:exactMatch hgnc.symbol:7399 semapv:UnspecifiedMatching +OMIM:156353 MT1G skos:exactMatch hgnc.symbol:MT1G semapv:UnspecifiedMatching OMIM:156353 MT1G skos:exactMatch ncbigene:4495 semapv:UnspecifiedMatching -OMIM:156354 MT1H skos:exactMatch hgnc:MT1H semapv:UnspecifiedMatching +OMIM:156354 MT1H skos:exactMatch hgnc.symbol:7400 semapv:UnspecifiedMatching +OMIM:156354 MT1H skos:exactMatch hgnc.symbol:MT1H semapv:UnspecifiedMatching OMIM:156354 MT1H skos:exactMatch ncbigene:4496 semapv:UnspecifiedMatching -OMIM:156355 MT1IP skos:exactMatch hgnc:MT1IP semapv:UnspecifiedMatching +OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:7401 semapv:UnspecifiedMatching +OMIM:156355 MT1IP skos:exactMatch hgnc.symbol:MT1IP semapv:UnspecifiedMatching OMIM:156355 MT1IP skos:exactMatch ncbigene:644314 semapv:UnspecifiedMatching -OMIM:156356 MT1JP skos:exactMatch hgnc:MT1JP semapv:UnspecifiedMatching +OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:7402 semapv:UnspecifiedMatching +OMIM:156356 MT1JP skos:exactMatch hgnc.symbol:MT1JP semapv:UnspecifiedMatching OMIM:156356 MT1JP skos:exactMatch ncbigene:4498 semapv:UnspecifiedMatching -OMIM:156357 MT1K skos:exactMatch hgnc:MT1M semapv:UnspecifiedMatching +OMIM:156357 MT1K skos:exactMatch hgnc.symbol:14296 semapv:UnspecifiedMatching +OMIM:156357 MT1K skos:exactMatch hgnc.symbol:MT1M semapv:UnspecifiedMatching OMIM:156357 MT1K skos:exactMatch ncbigene:4499 semapv:UnspecifiedMatching -OMIM:156358 MT1LP skos:exactMatch hgnc:MT1L semapv:UnspecifiedMatching +OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:7404 semapv:UnspecifiedMatching +OMIM:156358 MT1LP skos:exactMatch hgnc.symbol:MT1L semapv:UnspecifiedMatching OMIM:156358 MT1LP skos:exactMatch ncbigene:4500 semapv:UnspecifiedMatching -OMIM:156359 MT1X skos:exactMatch hgnc:MT1X semapv:UnspecifiedMatching +OMIM:156359 MT1X skos:exactMatch hgnc.symbol:7405 semapv:UnspecifiedMatching +OMIM:156359 MT1X skos:exactMatch hgnc.symbol:MT1X semapv:UnspecifiedMatching OMIM:156359 MT1X skos:exactMatch ncbigene:4501 semapv:UnspecifiedMatching -OMIM:156360 MT2A skos:exactMatch hgnc:MT2A semapv:UnspecifiedMatching +OMIM:156360 MT2A skos:exactMatch hgnc.symbol:7406 semapv:UnspecifiedMatching +OMIM:156360 MT2A skos:exactMatch hgnc.symbol:MT2A semapv:UnspecifiedMatching OMIM:156360 MT2A skos:exactMatch ncbigene:4502 semapv:UnspecifiedMatching -OMIM:156490 NME1 skos:exactMatch hgnc:NME1 semapv:UnspecifiedMatching +OMIM:156490 NME1 skos:exactMatch hgnc.symbol:7849 semapv:UnspecifiedMatching +OMIM:156490 NME1 skos:exactMatch hgnc.symbol:NME1 semapv:UnspecifiedMatching OMIM:156490 NME1 skos:exactMatch ncbigene:4830 semapv:UnspecifiedMatching -OMIM:156491 NME2 skos:exactMatch hgnc:NME2 semapv:UnspecifiedMatching +OMIM:156491 NME2 skos:exactMatch hgnc.symbol:7850 semapv:UnspecifiedMatching +OMIM:156491 NME2 skos:exactMatch hgnc.symbol:NME2 semapv:UnspecifiedMatching OMIM:156491 NME2 skos:exactMatch ncbigene:4831 semapv:UnspecifiedMatching -OMIM:156535 MBD1 skos:exactMatch hgnc:MBD1 semapv:UnspecifiedMatching +OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:6916 semapv:UnspecifiedMatching +OMIM:156535 MBD1 skos:exactMatch hgnc.symbol:MBD1 semapv:UnspecifiedMatching OMIM:156535 MBD1 skos:exactMatch ncbigene:4152 semapv:UnspecifiedMatching -OMIM:156540 MTAP skos:exactMatch hgnc:MTAP semapv:UnspecifiedMatching +OMIM:156540 MTAP skos:exactMatch hgnc.symbol:7413 semapv:UnspecifiedMatching +OMIM:156540 MTAP skos:exactMatch hgnc.symbol:MTAP semapv:UnspecifiedMatching OMIM:156540 MTAP skos:exactMatch ncbigene:4507 semapv:UnspecifiedMatching +OMIM:156550 kniest dysplasia skos:exactMatch Orphanet:485 semapv:UnspecifiedMatching OMIM:156550 kniest dysplasia skos:exactMatch UMLS:C0265279 semapv:UnspecifiedMatching -OMIM:156550 kniest dysplasia skos:exactMatch orphanet.ordo:485 semapv:UnspecifiedMatching -OMIM:156560 MARS1 skos:exactMatch hgnc:MARS1 semapv:UnspecifiedMatching +OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:6898 semapv:UnspecifiedMatching +OMIM:156560 MARS1 skos:exactMatch hgnc.symbol:MARS1 semapv:UnspecifiedMatching OMIM:156560 MARS1 skos:exactMatch ncbigene:4141 semapv:UnspecifiedMatching -OMIM:156565 MPG skos:exactMatch hgnc:MPG semapv:UnspecifiedMatching +OMIM:156565 MPG skos:exactMatch hgnc.symbol:7211 semapv:UnspecifiedMatching +OMIM:156565 MPG skos:exactMatch hgnc.symbol:MPG semapv:UnspecifiedMatching OMIM:156565 MPG skos:exactMatch ncbigene:4350 semapv:UnspecifiedMatching -OMIM:156569 MGMT skos:exactMatch hgnc:MGMT semapv:UnspecifiedMatching +OMIM:156569 MGMT skos:exactMatch hgnc.symbol:7059 semapv:UnspecifiedMatching +OMIM:156569 MGMT skos:exactMatch hgnc.symbol:MGMT semapv:UnspecifiedMatching OMIM:156569 MGMT skos:exactMatch ncbigene:4255 semapv:UnspecifiedMatching -OMIM:156570 MTR skos:exactMatch hgnc:MTR semapv:UnspecifiedMatching +OMIM:156570 MTR skos:exactMatch hgnc.symbol:7468 semapv:UnspecifiedMatching +OMIM:156570 MTR skos:exactMatch hgnc.symbol:MTR semapv:UnspecifiedMatching OMIM:156570 MTR skos:exactMatch ncbigene:4548 semapv:UnspecifiedMatching -OMIM:156790 MFAP2 skos:exactMatch hgnc:MFAP2 semapv:UnspecifiedMatching +OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:7033 semapv:UnspecifiedMatching +OMIM:156790 MFAP2 skos:exactMatch hgnc.symbol:MFAP2 semapv:UnspecifiedMatching OMIM:156790 MFAP2 skos:exactMatch ncbigene:4237 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch UMLS:C0391816 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch UMLS:C1417172 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch UMLS:C4310625 semapv:UnspecifiedMatching -OMIM:156845 MITF skos:exactMatch hgnc:MITF semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch hgnc.symbol:7105 semapv:UnspecifiedMatching +OMIM:156845 MITF skos:exactMatch hgnc.symbol:MITF semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch ncbigene:4286 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch UMLS:C1417004 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching -OMIM:157129 MAP1B skos:exactMatch hgnc:MAP1B semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:6836 semapv:UnspecifiedMatching +OMIM:157129 MAP1B skos:exactMatch hgnc.symbol:MAP1B semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch ncbigene:4131 semapv:UnspecifiedMatching -OMIM:157130 MAP2 skos:exactMatch hgnc:MAP2 semapv:UnspecifiedMatching +OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:6839 semapv:UnspecifiedMatching +OMIM:157130 MAP2 skos:exactMatch hgnc.symbol:MAP2 semapv:UnspecifiedMatching OMIM:157130 MAP2 skos:exactMatch ncbigene:4133 semapv:UnspecifiedMatching -OMIM:157132 MAP4 skos:exactMatch hgnc:MAP4 semapv:UnspecifiedMatching +OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:6862 semapv:UnspecifiedMatching +OMIM:157132 MAP4 skos:exactMatch hgnc.symbol:MAP4 semapv:UnspecifiedMatching OMIM:157132 MAP4 skos:exactMatch ncbigene:4134 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C0236642 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching @@ -3858,80 +5163,109 @@ OMIM:157140 MAPT skos:exactMatch UMLS:C1446659 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C1850077 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch UMLS:C4551863 semapv:UnspecifiedMatching -OMIM:157140 MAPT skos:exactMatch hgnc:MAPT semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch hgnc.symbol:6893 semapv:UnspecifiedMatching +OMIM:157140 MAPT skos:exactMatch hgnc.symbol:MAPT semapv:UnspecifiedMatching OMIM:157140 MAPT skos:exactMatch ncbigene:4137 semapv:UnspecifiedMatching -OMIM:157145 MSMB skos:exactMatch hgnc:MSMB semapv:UnspecifiedMatching +OMIM:157145 MSMB skos:exactMatch hgnc.symbol:7372 semapv:UnspecifiedMatching +OMIM:157145 MSMB skos:exactMatch hgnc.symbol:MSMB semapv:UnspecifiedMatching OMIM:157145 MSMB skos:exactMatch ncbigene:4477 semapv:UnspecifiedMatching -OMIM:157147 MTTP skos:exactMatch hgnc:MTTP semapv:UnspecifiedMatching +OMIM:157147 MTTP skos:exactMatch hgnc.symbol:7467 semapv:UnspecifiedMatching +OMIM:157147 MTTP skos:exactMatch hgnc.symbol:MTTP semapv:UnspecifiedMatching OMIM:157147 MTTP skos:exactMatch ncbigene:4547 semapv:UnspecifiedMatching OMIM:157560 minisatellite 33.6 skos:exactMatch UMLS:C1834872 semapv:UnspecifiedMatching OMIM:157570 minisatellite 33.15 skos:exactMatch UMLS:C1834871 semapv:UnspecifiedMatching +OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch UMLS:C1834846 semapv:UnspecifiedMatching -OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:exactMatch orphanet.ordo:254892 semapv:UnspecifiedMatching -OMIM:157655 NDUFS1 skos:exactMatch hgnc:NDUFS1 semapv:UnspecifiedMatching +OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:7707 semapv:UnspecifiedMatching +OMIM:157655 NDUFS1 skos:exactMatch hgnc.symbol:NDUFS1 semapv:UnspecifiedMatching OMIM:157655 NDUFS1 skos:exactMatch ncbigene:4719 semapv:UnspecifiedMatching -OMIM:157660 RMRP skos:exactMatch hgnc:RMRP semapv:UnspecifiedMatching +OMIM:157660 RMRP skos:exactMatch hgnc.symbol:10031 semapv:UnspecifiedMatching +OMIM:157660 RMRP skos:exactMatch hgnc.symbol:RMRP semapv:UnspecifiedMatching OMIM:157660 RMRP skos:exactMatch ncbigene:6023 semapv:UnspecifiedMatching -OMIM:157680 CDC25C skos:exactMatch hgnc:CDC25C semapv:UnspecifiedMatching +OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:1727 semapv:UnspecifiedMatching +OMIM:157680 CDC25C skos:exactMatch hgnc.symbol:CDC25C semapv:UnspecifiedMatching OMIM:157680 CDC25C skos:exactMatch ncbigene:995 semapv:UnspecifiedMatching +OMIM:157700 mitral valve prolapse 1 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C0340364 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C1834819 semapv:UnspecifiedMatching -OMIM:157700 mitral valve prolapse 1 skos:exactMatch orphanet.ordo:741 semapv:UnspecifiedMatching +OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching -OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch orphanet.ordo:3238 semapv:UnspecifiedMatching +OMIM:157900 moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching OMIM:157900 moebius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching -OMIM:157900 moebius syndrome skos:exactMatch orphanet.ordo:570 semapv:UnspecifiedMatching -OMIM:157970 PSMD7 skos:exactMatch hgnc:PSMD7 semapv:UnspecifiedMatching +OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:9565 semapv:UnspecifiedMatching +OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:PSMD7 semapv:UnspecifiedMatching OMIM:157970 PSMD7 skos:exactMatch ncbigene:5713 semapv:UnspecifiedMatching -OMIM:158070 SLC3A2 skos:exactMatch hgnc:SLC3A2 semapv:UnspecifiedMatching +OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:11026 semapv:UnspecifiedMatching +OMIM:158070 SLC3A2 skos:exactMatch hgnc.symbol:SLC3A2 semapv:UnspecifiedMatching OMIM:158070 SLC3A2 skos:exactMatch ncbigene:6520 semapv:UnspecifiedMatching -OMIM:158105 CCL2 skos:exactMatch hgnc:CCL2 semapv:UnspecifiedMatching +OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:10618 semapv:UnspecifiedMatching +OMIM:158105 CCL2 skos:exactMatch hgnc.symbol:CCL2 semapv:UnspecifiedMatching OMIM:158105 CCL2 skos:exactMatch ncbigene:6347 semapv:UnspecifiedMatching -OMIM:158106 CCL7 skos:exactMatch hgnc:CCL7 semapv:UnspecifiedMatching +OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:10634 semapv:UnspecifiedMatching +OMIM:158106 CCL7 skos:exactMatch hgnc.symbol:CCL7 semapv:UnspecifiedMatching OMIM:158106 CCL7 skos:exactMatch ncbigene:6354 semapv:UnspecifiedMatching -OMIM:158120 CD14 skos:exactMatch hgnc:CD14 semapv:UnspecifiedMatching +OMIM:158120 CD14 skos:exactMatch hgnc.symbol:1628 semapv:UnspecifiedMatching +OMIM:158120 CD14 skos:exactMatch hgnc.symbol:CD14 semapv:UnspecifiedMatching OMIM:158120 CD14 skos:exactMatch ncbigene:929 semapv:UnspecifiedMatching +OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 semapv:UnspecifiedMatching OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch UMLS:C0795830 semapv:UnspecifiedMatching -OMIM:158170 chromosome 9p deletion syndrome skos:exactMatch orphanet.ordo:261112 semapv:UnspecifiedMatching -OMIM:158270 MLN skos:exactMatch hgnc:MLN semapv:UnspecifiedMatching +OMIM:158270 MLN skos:exactMatch hgnc.symbol:7141 semapv:UnspecifiedMatching +OMIM:158270 MLN skos:exactMatch hgnc.symbol:MLN semapv:UnspecifiedMatching OMIM:158270 MLN skos:exactMatch ncbigene:4295 semapv:UnspecifiedMatching +OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch Orphanet:1839 semapv:UnspecifiedMatching OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching -OMIM:158310 mucoepithelial dysplasia, hereditary skos:exactMatch orphanet.ordo:1839 semapv:UnspecifiedMatching -OMIM:158340 MUC1 skos:exactMatch hgnc:MUC1 semapv:UnspecifiedMatching +OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:7508 semapv:UnspecifiedMatching +OMIM:158340 MUC1 skos:exactMatch hgnc.symbol:MUC1 semapv:UnspecifiedMatching OMIM:158340 MUC1 skos:exactMatch ncbigene:4582 semapv:UnspecifiedMatching OMIM:158343 ABCC1 skos:exactMatch UMLS:C0919458 semapv:UnspecifiedMatching OMIM:158343 ABCC1 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching -OMIM:158343 ABCC1 skos:exactMatch hgnc:ABCC1 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:51 semapv:UnspecifiedMatching +OMIM:158343 ABCC1 skos:exactMatch hgnc.symbol:ABCC1 semapv:UnspecifiedMatching OMIM:158343 ABCC1 skos:exactMatch ncbigene:4363 semapv:UnspecifiedMatching -OMIM:158370 MUC2 skos:exactMatch hgnc:MUC2 semapv:UnspecifiedMatching +OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:7512 semapv:UnspecifiedMatching +OMIM:158370 MUC2 skos:exactMatch hgnc.symbol:MUC2 semapv:UnspecifiedMatching OMIM:158370 MUC2 skos:exactMatch ncbigene:4583 semapv:UnspecifiedMatching -OMIM:158371 MUC3A skos:exactMatch hgnc:MUC3A semapv:UnspecifiedMatching +OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:7513 semapv:UnspecifiedMatching +OMIM:158371 MUC3A skos:exactMatch hgnc.symbol:MUC3A semapv:UnspecifiedMatching OMIM:158371 MUC3A skos:exactMatch ncbigene:4584 semapv:UnspecifiedMatching -OMIM:158372 MUC4 skos:exactMatch hgnc:MUC4 semapv:UnspecifiedMatching +OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:7514 semapv:UnspecifiedMatching +OMIM:158372 MUC4 skos:exactMatch hgnc.symbol:MUC4 semapv:UnspecifiedMatching OMIM:158372 MUC4 skos:exactMatch ncbigene:4585 semapv:UnspecifiedMatching -OMIM:158373 MUC5AC skos:exactMatch hgnc:MUC5AC semapv:UnspecifiedMatching +OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:7515 semapv:UnspecifiedMatching +OMIM:158373 MUC5AC skos:exactMatch hgnc.symbol:MUC5AC semapv:UnspecifiedMatching OMIM:158373 MUC5AC skos:exactMatch ncbigene:4586 semapv:UnspecifiedMatching -OMIM:158374 MUC6 skos:exactMatch hgnc:MUC6 semapv:UnspecifiedMatching +OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:7517 semapv:UnspecifiedMatching +OMIM:158374 MUC6 skos:exactMatch hgnc.symbol:MUC6 semapv:UnspecifiedMatching OMIM:158374 MUC6 skos:exactMatch ncbigene:4588 semapv:UnspecifiedMatching -OMIM:158375 MUC7 skos:exactMatch hgnc:MUC7 semapv:UnspecifiedMatching +OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:7518 semapv:UnspecifiedMatching +OMIM:158375 MUC7 skos:exactMatch hgnc.symbol:MUC7 semapv:UnspecifiedMatching OMIM:158375 MUC7 skos:exactMatch ncbigene:4589 semapv:UnspecifiedMatching -OMIM:158378 SLC20A2 skos:exactMatch hgnc:SLC20A2 semapv:UnspecifiedMatching +OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:10947 semapv:UnspecifiedMatching +OMIM:158378 SLC20A2 skos:exactMatch hgnc.symbol:SLC20A2 semapv:UnspecifiedMatching OMIM:158378 SLC20A2 skos:exactMatch ncbigene:6575 semapv:UnspecifiedMatching -OMIM:158380 EVI2A skos:exactMatch hgnc:EVI2A semapv:UnspecifiedMatching +OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:3499 semapv:UnspecifiedMatching +OMIM:158380 EVI2A skos:exactMatch hgnc.symbol:EVI2A semapv:UnspecifiedMatching OMIM:158380 EVI2A skos:exactMatch ncbigene:2123 semapv:UnspecifiedMatching -OMIM:158381 EVI2B skos:exactMatch hgnc:EVI2B semapv:UnspecifiedMatching +OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:3500 semapv:UnspecifiedMatching +OMIM:158381 EVI2B skos:exactMatch hgnc.symbol:EVI2B semapv:UnspecifiedMatching OMIM:158381 EVI2B skos:exactMatch ncbigene:2124 semapv:UnspecifiedMatching -OMIM:159350 MCC skos:exactMatch hgnc:MCC semapv:UnspecifiedMatching +OMIM:159350 MCC skos:exactMatch hgnc.symbol:6935 semapv:UnspecifiedMatching +OMIM:159350 MCC skos:exactMatch hgnc.symbol:MCC semapv:UnspecifiedMatching OMIM:159350 MCC skos:exactMatch ncbigene:4163 semapv:UnspecifiedMatching -OMIM:159405 MYBL1 skos:exactMatch hgnc:MYBL1 semapv:UnspecifiedMatching +OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:7547 semapv:UnspecifiedMatching +OMIM:159405 MYBL1 skos:exactMatch hgnc.symbol:MYBL1 semapv:UnspecifiedMatching OMIM:159405 MYBL1 skos:exactMatch ncbigene:4603 semapv:UnspecifiedMatching -OMIM:159430 MBP skos:exactMatch hgnc:MBP semapv:UnspecifiedMatching +OMIM:159430 MBP skos:exactMatch hgnc.symbol:6925 semapv:UnspecifiedMatching +OMIM:159430 MBP skos:exactMatch hgnc.symbol:MBP semapv:UnspecifiedMatching OMIM:159430 MBP skos:exactMatch ncbigene:4155 semapv:UnspecifiedMatching -OMIM:159440 MPZ skos:exactMatch hgnc:MPZ semapv:UnspecifiedMatching +OMIM:159440 MPZ skos:exactMatch hgnc.symbol:7225 semapv:UnspecifiedMatching +OMIM:159440 MPZ skos:exactMatch hgnc.symbol:MPZ semapv:UnspecifiedMatching OMIM:159440 MPZ skos:exactMatch ncbigene:4359 semapv:UnspecifiedMatching -OMIM:159460 MAG skos:exactMatch hgnc:MAG semapv:UnspecifiedMatching +OMIM:159460 MAG skos:exactMatch hgnc.symbol:6783 semapv:UnspecifiedMatching +OMIM:159460 MAG skos:exactMatch hgnc.symbol:MAG semapv:UnspecifiedMatching OMIM:159460 MAG skos:exactMatch ncbigene:4099 semapv:UnspecifiedMatching -OMIM:159465 MOG skos:exactMatch hgnc:MOG semapv:UnspecifiedMatching +OMIM:159465 MOG skos:exactMatch hgnc.symbol:7197 semapv:UnspecifiedMatching +OMIM:159465 MOG skos:exactMatch hgnc.symbol:MOG semapv:UnspecifiedMatching OMIM:159465 MOG skos:exactMatch ncbigene:4340 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C0812295 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C1327915 semapv:UnspecifiedMatching @@ -3939,51 +5273,66 @@ OMIM:159530 MPL skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C3277190 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C4016267 semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch UMLS:C4016268 semapv:UnspecifiedMatching -OMIM:159530 MPL skos:exactMatch hgnc:MPL semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch hgnc.symbol:7217 semapv:UnspecifiedMatching +OMIM:159530 MPL skos:exactMatch hgnc.symbol:MPL semapv:UnspecifiedMatching OMIM:159530 MPL skos:exactMatch ncbigene:4352 semapv:UnspecifiedMatching -OMIM:159540 LIF skos:exactMatch hgnc:LIF semapv:UnspecifiedMatching +OMIM:159540 LIF skos:exactMatch hgnc.symbol:6596 semapv:UnspecifiedMatching +OMIM:159540 LIF skos:exactMatch hgnc.symbol:LIF semapv:UnspecifiedMatching OMIM:159540 LIF skos:exactMatch ncbigene:3976 semapv:UnspecifiedMatching +OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 semapv:UnspecifiedMatching OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching -OMIM:159550 ataxia-pancytopenia syndrome skos:exactMatch orphanet.ordo:2585 semapv:UnspecifiedMatching OMIM:159552 MCL1 skos:exactMatch UMLS:C1366587 semapv:UnspecifiedMatching OMIM:159552 MCL1 skos:exactMatch UMLS:C1834590 semapv:UnspecifiedMatching -OMIM:159552 MCL1 skos:exactMatch hgnc:MCL1 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:6943 semapv:UnspecifiedMatching +OMIM:159552 MCL1 skos:exactMatch hgnc.symbol:MCL1 semapv:UnspecifiedMatching OMIM:159552 MCL1 skos:exactMatch ncbigene:4170 semapv:UnspecifiedMatching -OMIM:159553 MNDA skos:exactMatch hgnc:MNDA semapv:UnspecifiedMatching +OMIM:159553 MNDA skos:exactMatch hgnc.symbol:7183 semapv:UnspecifiedMatching +OMIM:159553 MNDA skos:exactMatch hgnc.symbol:MNDA semapv:UnspecifiedMatching OMIM:159553 MNDA skos:exactMatch ncbigene:4332 semapv:UnspecifiedMatching OMIM:159555 KMT2A skos:exactMatch UMLS:C0919528 semapv:UnspecifiedMatching OMIM:159555 KMT2A skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching -OMIM:159555 KMT2A skos:exactMatch hgnc:KMT2A semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:7132 semapv:UnspecifiedMatching +OMIM:159555 KMT2A skos:exactMatch hgnc.symbol:KMT2A semapv:UnspecifiedMatching OMIM:159555 KMT2A skos:exactMatch ncbigene:4297 semapv:UnspecifiedMatching OMIM:159556 MLLT1 skos:exactMatch UMLS:C1334513 semapv:UnspecifiedMatching -OMIM:159556 MLLT1 skos:exactMatch hgnc:MLLT1 semapv:UnspecifiedMatching +OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:7134 semapv:UnspecifiedMatching +OMIM:159556 MLLT1 skos:exactMatch hgnc.symbol:MLLT1 semapv:UnspecifiedMatching OMIM:159556 MLLT1 skos:exactMatch ncbigene:4298 semapv:UnspecifiedMatching -OMIM:159557 AFF1 skos:exactMatch hgnc:AFF1 semapv:UnspecifiedMatching +OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:7135 semapv:UnspecifiedMatching +OMIM:159557 AFF1 skos:exactMatch hgnc.symbol:AFF1 semapv:UnspecifiedMatching OMIM:159557 AFF1 skos:exactMatch ncbigene:4299 semapv:UnspecifiedMatching OMIM:159558 MLLT3 skos:exactMatch UMLS:C1334515 semapv:UnspecifiedMatching -OMIM:159558 MLLT3 skos:exactMatch hgnc:MLLT3 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:7136 semapv:UnspecifiedMatching +OMIM:159558 MLLT3 skos:exactMatch hgnc.symbol:MLLT3 semapv:UnspecifiedMatching OMIM:159558 MLLT3 skos:exactMatch ncbigene:4300 semapv:UnspecifiedMatching -OMIM:159559 AFDN skos:exactMatch hgnc:AFDN semapv:UnspecifiedMatching +OMIM:159559 AFDN skos:exactMatch hgnc.symbol:7137 semapv:UnspecifiedMatching +OMIM:159559 AFDN skos:exactMatch hgnc.symbol:AFDN semapv:UnspecifiedMatching OMIM:159559 AFDN skos:exactMatch ncbigene:4301 semapv:UnspecifiedMatching -OMIM:159590 CD33 skos:exactMatch hgnc:CD33 semapv:UnspecifiedMatching +OMIM:159590 CD33 skos:exactMatch hgnc.symbol:1659 semapv:UnspecifiedMatching +OMIM:159590 CD33 skos:exactMatch hgnc.symbol:CD33 semapv:UnspecifiedMatching OMIM:159590 CD33 skos:exactMatch ncbigene:945 semapv:UnspecifiedMatching +OMIM:159900 dystonia 11, myoclonic skos:exactMatch Orphanet:36899 semapv:UnspecifiedMatching OMIM:159900 dystonia 11, myoclonic skos:exactMatch UMLS:C1834570 semapv:UnspecifiedMatching -OMIM:159900 dystonia 11, myoclonic skos:exactMatch orphanet.ordo:36899 semapv:UnspecifiedMatching OMIM:159970 MYOD1 skos:exactMatch UMLS:C1417574 semapv:UnspecifiedMatching OMIM:159970 MYOD1 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching -OMIM:159970 MYOD1 skos:exactMatch hgnc:MYOD1 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:7611 semapv:UnspecifiedMatching +OMIM:159970 MYOD1 skos:exactMatch hgnc.symbol:MYOD1 semapv:UnspecifiedMatching OMIM:159970 MYOD1 skos:exactMatch ncbigene:4654 semapv:UnspecifiedMatching -OMIM:159980 MYOG skos:exactMatch hgnc:MYOG semapv:UnspecifiedMatching +OMIM:159980 MYOG skos:exactMatch hgnc.symbol:7612 semapv:UnspecifiedMatching +OMIM:159980 MYOG skos:exactMatch hgnc.symbol:MYOG semapv:UnspecifiedMatching OMIM:159980 MYOG skos:exactMatch ncbigene:4656 semapv:UnspecifiedMatching -OMIM:159990 MYF5 skos:exactMatch hgnc:MYF5 semapv:UnspecifiedMatching +OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:7565 semapv:UnspecifiedMatching +OMIM:159990 MYF5 skos:exactMatch hgnc.symbol:MYF5 semapv:UnspecifiedMatching OMIM:159990 MYF5 skos:exactMatch ncbigene:4617 semapv:UnspecifiedMatching -OMIM:159991 MYF6 skos:exactMatch hgnc:MYF6 semapv:UnspecifiedMatching +OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:7566 semapv:UnspecifiedMatching +OMIM:159991 MYF6 skos:exactMatch hgnc.symbol:MYF6 semapv:UnspecifiedMatching OMIM:159991 MYF6 skos:exactMatch ncbigene:4618 semapv:UnspecifiedMatching -OMIM:160000 MB skos:exactMatch hgnc:MB semapv:UnspecifiedMatching +OMIM:160000 MB skos:exactMatch hgnc.symbol:6915 semapv:UnspecifiedMatching +OMIM:160000 MB skos:exactMatch hgnc.symbol:MB semapv:UnspecifiedMatching OMIM:160000 MB skos:exactMatch ncbigene:4151 semapv:UnspecifiedMatching +OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:37612 semapv:UnspecifiedMatching +OMIM:160120 episodic ataxia, iia 1 skos:exactMatch Orphanet:972 semapv:UnspecifiedMatching OMIM:160120 episodic ataxia, iia 1 skos:exactMatch UMLS:C1719788 semapv:UnspecifiedMatching -OMIM:160120 episodic ataxia, iia 1 skos:exactMatch orphanet.ordo:37612 semapv:UnspecifiedMatching -OMIM:160120 episodic ataxia, iia 1 skos:exactMatch orphanet.ordo:972 semapv:UnspecifiedMatching OMIM:160700 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C1417541 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching @@ -3991,30 +5340,39 @@ OMIM:160710 MYH6 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C3279790 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C3279791 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C4016269 semapv:UnspecifiedMatching -OMIM:160710 MYH6 skos:exactMatch hgnc:MYH6 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:7576 semapv:UnspecifiedMatching +OMIM:160710 MYH6 skos:exactMatch hgnc.symbol:MYH6 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch ncbigene:4624 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C0265224 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C1417538 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C5193098 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching -OMIM:160720 MYH3 skos:exactMatch hgnc:MYH3 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:7573 semapv:UnspecifiedMatching +OMIM:160720 MYH3 skos:exactMatch hgnc.symbol:MYH3 semapv:UnspecifiedMatching OMIM:160720 MYH3 skos:exactMatch ncbigene:4621 semapv:UnspecifiedMatching -OMIM:160730 MYH1 skos:exactMatch hgnc:MYH1 semapv:UnspecifiedMatching +OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:7567 semapv:UnspecifiedMatching +OMIM:160730 MYH1 skos:exactMatch hgnc.symbol:MYH1 semapv:UnspecifiedMatching OMIM:160730 MYH1 skos:exactMatch ncbigene:4619 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch UMLS:C1417537 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching -OMIM:160740 MYH2 skos:exactMatch hgnc:MYH2 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:7572 semapv:UnspecifiedMatching +OMIM:160740 MYH2 skos:exactMatch hgnc.symbol:MYH2 semapv:UnspecifiedMatching OMIM:160740 MYH2 skos:exactMatch ncbigene:4620 semapv:UnspecifiedMatching -OMIM:160741 MYH8 skos:exactMatch hgnc:MYH8 semapv:UnspecifiedMatching +OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:7578 semapv:UnspecifiedMatching +OMIM:160741 MYH8 skos:exactMatch hgnc.symbol:MYH8 semapv:UnspecifiedMatching OMIM:160741 MYH8 skos:exactMatch ncbigene:4626 semapv:UnspecifiedMatching -OMIM:160742 MYH4 skos:exactMatch hgnc:MYH4 semapv:UnspecifiedMatching +OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:7574 semapv:UnspecifiedMatching +OMIM:160742 MYH4 skos:exactMatch hgnc.symbol:MYH4 semapv:UnspecifiedMatching OMIM:160742 MYH4 skos:exactMatch ncbigene:4622 semapv:UnspecifiedMatching -OMIM:160745 MYH11 skos:exactMatch hgnc:MYH11 semapv:UnspecifiedMatching +OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:7569 semapv:UnspecifiedMatching +OMIM:160745 MYH11 skos:exactMatch hgnc.symbol:MYH11 semapv:UnspecifiedMatching OMIM:160745 MYH11 skos:exactMatch ncbigene:4629 semapv:UnspecifiedMatching -OMIM:160760 MYH7 skos:exactMatch hgnc:MYH7 semapv:UnspecifiedMatching +OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:7577 semapv:UnspecifiedMatching +OMIM:160760 MYH7 skos:exactMatch hgnc.symbol:MYH7 semapv:UnspecifiedMatching OMIM:160760 MYH7 skos:exactMatch ncbigene:4625 semapv:UnspecifiedMatching -OMIM:160770 MYL4 skos:exactMatch hgnc:MYL4 semapv:UnspecifiedMatching +OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:7585 semapv:UnspecifiedMatching +OMIM:160770 MYL4 skos:exactMatch hgnc.symbol:MYL4 semapv:UnspecifiedMatching OMIM:160770 MYL4 skos:exactMatch ncbigene:4635 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C1417544 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C1863659 semapv:UnspecifiedMatching @@ -4022,248 +5380,338 @@ OMIM:160775 MYH9 skos:exactMatch UMLS:C4693968 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C4693969 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C4693970 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch UMLS:C5200934 semapv:UnspecifiedMatching -OMIM:160775 MYH9 skos:exactMatch hgnc:MYH9 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:7579 semapv:UnspecifiedMatching +OMIM:160775 MYH9 skos:exactMatch hgnc.symbol:MYH9 semapv:UnspecifiedMatching OMIM:160775 MYH9 skos:exactMatch ncbigene:4627 semapv:UnspecifiedMatching OMIM:160776 MYH10 skos:exactMatch UMLS:C1417535 semapv:UnspecifiedMatching OMIM:160776 MYH10 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:160776 MYH10 skos:exactMatch hgnc:MYH10 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:7568 semapv:UnspecifiedMatching +OMIM:160776 MYH10 skos:exactMatch hgnc.symbol:MYH10 semapv:UnspecifiedMatching OMIM:160776 MYH10 skos:exactMatch ncbigene:4628 semapv:UnspecifiedMatching -OMIM:160777 MYO5A skos:exactMatch hgnc:MYO5A semapv:UnspecifiedMatching +OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:7602 semapv:UnspecifiedMatching +OMIM:160777 MYO5A skos:exactMatch hgnc.symbol:MYO5A semapv:UnspecifiedMatching OMIM:160777 MYO5A skos:exactMatch ncbigene:4644 semapv:UnspecifiedMatching -OMIM:160780 MYL1 skos:exactMatch hgnc:MYL1 semapv:UnspecifiedMatching +OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:7582 semapv:UnspecifiedMatching +OMIM:160780 MYL1 skos:exactMatch hgnc.symbol:MYL1 semapv:UnspecifiedMatching OMIM:160780 MYL1 skos:exactMatch ncbigene:4632 semapv:UnspecifiedMatching -OMIM:160781 MYL2 skos:exactMatch hgnc:MYL2 semapv:UnspecifiedMatching +OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:7583 semapv:UnspecifiedMatching +OMIM:160781 MYL2 skos:exactMatch hgnc.symbol:MYL2 semapv:UnspecifiedMatching OMIM:160781 MYL2 skos:exactMatch ncbigene:4633 semapv:UnspecifiedMatching -OMIM:160782 MYL5 skos:exactMatch hgnc:MYL5 semapv:UnspecifiedMatching +OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:7586 semapv:UnspecifiedMatching +OMIM:160782 MYL5 skos:exactMatch hgnc.symbol:MYL5 semapv:UnspecifiedMatching OMIM:160782 MYL5 skos:exactMatch ncbigene:4636 semapv:UnspecifiedMatching -OMIM:160790 MYL3 skos:exactMatch hgnc:MYL3 semapv:UnspecifiedMatching +OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:7584 semapv:UnspecifiedMatching +OMIM:160790 MYL3 skos:exactMatch hgnc.symbol:MYL3 semapv:UnspecifiedMatching OMIM:160790 MYL3 skos:exactMatch ncbigene:4634 semapv:UnspecifiedMatching -OMIM:160793 MYBPC2 skos:exactMatch hgnc:MYBPC2 semapv:UnspecifiedMatching +OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:7550 semapv:UnspecifiedMatching +OMIM:160793 MYBPC2 skos:exactMatch hgnc.symbol:MYBPC2 semapv:UnspecifiedMatching OMIM:160793 MYBPC2 skos:exactMatch ncbigene:4606 semapv:UnspecifiedMatching -OMIM:160794 MYBPC1 skos:exactMatch hgnc:MYBPC1 semapv:UnspecifiedMatching +OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:7549 semapv:UnspecifiedMatching +OMIM:160794 MYBPC1 skos:exactMatch hgnc.symbol:MYBPC1 semapv:UnspecifiedMatching OMIM:160794 MYBPC1 skos:exactMatch ncbigene:4604 semapv:UnspecifiedMatching -OMIM:160795 MYBPH skos:exactMatch hgnc:MYBPH semapv:UnspecifiedMatching +OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:7552 semapv:UnspecifiedMatching +OMIM:160795 MYBPH skos:exactMatch hgnc.symbol:MYBPH semapv:UnspecifiedMatching OMIM:160795 MYBPH skos:exactMatch ncbigene:4608 semapv:UnspecifiedMatching +OMIM:160900 myotonic dystrophy 1 skos:exactMatch Orphanet:273 semapv:UnspecifiedMatching OMIM:160900 myotonic dystrophy 1 skos:exactMatch UMLS:C3250443 semapv:UnspecifiedMatching -OMIM:160900 myotonic dystrophy 1 skos:exactMatch orphanet.ordo:273 semapv:UnspecifiedMatching -OMIM:160993 NMT1 skos:exactMatch hgnc:NMT1 semapv:UnspecifiedMatching +OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:7857 semapv:UnspecifiedMatching +OMIM:160993 NMT1 skos:exactMatch hgnc.symbol:NMT1 semapv:UnspecifiedMatching OMIM:160993 NMT1 skos:exactMatch ncbigene:4836 semapv:UnspecifiedMatching -OMIM:160994 HNRNPM skos:exactMatch hgnc:HNRNPM semapv:UnspecifiedMatching +OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:5046 semapv:UnspecifiedMatching +OMIM:160994 HNRNPM skos:exactMatch hgnc.symbol:HNRNPM semapv:UnspecifiedMatching OMIM:160994 HNRNPM skos:exactMatch ncbigene:4670 semapv:UnspecifiedMatching -OMIM:160995 MGAT1 skos:exactMatch hgnc:MGAT1 semapv:UnspecifiedMatching +OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:7044 semapv:UnspecifiedMatching +OMIM:160995 MGAT1 skos:exactMatch hgnc.symbol:MGAT1 semapv:UnspecifiedMatching OMIM:160995 MGAT1 skos:exactMatch ncbigene:4245 semapv:UnspecifiedMatching -OMIM:160998 NQO2 skos:exactMatch hgnc:NQO2 semapv:UnspecifiedMatching +OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:7856 semapv:UnspecifiedMatching +OMIM:160998 NQO2 skos:exactMatch hgnc.symbol:NQO2 semapv:UnspecifiedMatching OMIM:160998 NQO2 skos:exactMatch ncbigene:4835 semapv:UnspecifiedMatching -OMIM:161015 NDUFV1 skos:exactMatch hgnc:NDUFV1 semapv:UnspecifiedMatching +OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:7716 semapv:UnspecifiedMatching +OMIM:161015 NDUFV1 skos:exactMatch hgnc.symbol:NDUFV1 semapv:UnspecifiedMatching OMIM:161015 NDUFV1 skos:exactMatch ncbigene:4723 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:280654 semapv:UnspecifiedMatching +OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch Orphanet:79153 semapv:UnspecifiedMatching OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching -OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch orphanet.ordo:280654 semapv:UnspecifiedMatching -OMIM:161050 nail disorder, nonsyndromic congenital, 1 skos:exactMatch orphanet.ordo:79153 semapv:UnspecifiedMatching +OMIM:161200 nail-patella syndrome skos:exactMatch Orphanet:2614 semapv:UnspecifiedMatching OMIM:161200 nail-patella syndrome skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching -OMIM:161200 nail-patella syndrome skos:exactMatch orphanet.ordo:2614 semapv:UnspecifiedMatching -OMIM:161555 KLRC1 skos:exactMatch hgnc:KLRC1 semapv:UnspecifiedMatching +OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:6374 semapv:UnspecifiedMatching +OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:KLRC1 semapv:UnspecifiedMatching OMIM:161555 KLRC1 skos:exactMatch ncbigene:3821 semapv:UnspecifiedMatching OMIM:161560 IL12A skos:exactMatch UMLS:C1334101 semapv:UnspecifiedMatching -OMIM:161560 IL12A skos:exactMatch hgnc:IL12A semapv:UnspecifiedMatching +OMIM:161560 IL12A skos:exactMatch hgnc.symbol:5969 semapv:UnspecifiedMatching +OMIM:161560 IL12A skos:exactMatch hgnc.symbol:IL12A semapv:UnspecifiedMatching OMIM:161560 IL12A skos:exactMatch ncbigene:3592 semapv:UnspecifiedMatching -OMIM:161561 IL12B skos:exactMatch hgnc:IL12B semapv:UnspecifiedMatching +OMIM:161561 IL12B skos:exactMatch hgnc.symbol:5970 semapv:UnspecifiedMatching +OMIM:161561 IL12B skos:exactMatch hgnc.symbol:IL12B semapv:UnspecifiedMatching OMIM:161561 IL12B skos:exactMatch ncbigene:3593 semapv:UnspecifiedMatching -OMIM:161565 NKTR skos:exactMatch hgnc:NKTR semapv:UnspecifiedMatching +OMIM:161565 NKTR skos:exactMatch hgnc.symbol:7833 semapv:UnspecifiedMatching +OMIM:161565 NKTR skos:exactMatch hgnc.symbol:NKTR semapv:UnspecifiedMatching OMIM:161565 NKTR skos:exactMatch ncbigene:4820 semapv:UnspecifiedMatching -OMIM:161650 NEB skos:exactMatch hgnc:NEB semapv:UnspecifiedMatching +OMIM:161650 NEB skos:exactMatch hgnc.symbol:7720 semapv:UnspecifiedMatching +OMIM:161650 NEB skos:exactMatch hgnc.symbol:NEB semapv:UnspecifiedMatching OMIM:161650 NEB skos:exactMatch ncbigene:4703 semapv:UnspecifiedMatching -OMIM:162010 NGFR skos:exactMatch hgnc:NGFR semapv:UnspecifiedMatching +OMIM:162010 NGFR skos:exactMatch hgnc.symbol:7809 semapv:UnspecifiedMatching +OMIM:162010 NGFR skos:exactMatch hgnc.symbol:NGFR semapv:UnspecifiedMatching OMIM:162010 NGFR skos:exactMatch ncbigene:4804 semapv:UnspecifiedMatching -OMIM:162030 NGF skos:exactMatch hgnc:NGF semapv:UnspecifiedMatching +OMIM:162030 NGF skos:exactMatch hgnc.symbol:7808 semapv:UnspecifiedMatching +OMIM:162030 NGF skos:exactMatch hgnc.symbol:NGF semapv:UnspecifiedMatching OMIM:162030 NGF skos:exactMatch ncbigene:4803 semapv:UnspecifiedMatching -OMIM:162060 GAP43 skos:exactMatch hgnc:GAP43 semapv:UnspecifiedMatching +OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:4140 semapv:UnspecifiedMatching +OMIM:162060 GAP43 skos:exactMatch hgnc.symbol:GAP43 semapv:UnspecifiedMatching OMIM:162060 GAP43 skos:exactMatch ncbigene:2596 semapv:UnspecifiedMatching -OMIM:162080 NRL skos:exactMatch hgnc:NRL semapv:UnspecifiedMatching +OMIM:162080 NRL skos:exactMatch hgnc.symbol:8002 semapv:UnspecifiedMatching +OMIM:162080 NRL skos:exactMatch hgnc.symbol:NRL semapv:UnspecifiedMatching OMIM:162080 NRL skos:exactMatch ncbigene:4901 semapv:UnspecifiedMatching -OMIM:162095 PTN skos:exactMatch hgnc:PTN semapv:UnspecifiedMatching +OMIM:162095 PTN skos:exactMatch hgnc.symbol:9630 semapv:UnspecifiedMatching +OMIM:162095 PTN skos:exactMatch hgnc.symbol:PTN semapv:UnspecifiedMatching OMIM:162095 PTN skos:exactMatch ncbigene:5764 semapv:UnspecifiedMatching -OMIM:162096 MDK skos:exactMatch hgnc:MDK semapv:UnspecifiedMatching +OMIM:162096 MDK skos:exactMatch hgnc.symbol:6972 semapv:UnspecifiedMatching +OMIM:162096 MDK skos:exactMatch hgnc.symbol:MDK semapv:UnspecifiedMatching OMIM:162096 MDK skos:exactMatch ncbigene:4192 semapv:UnspecifiedMatching -OMIM:162150 PCSK1 skos:exactMatch hgnc:PCSK1 semapv:UnspecifiedMatching +OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:8743 semapv:UnspecifiedMatching +OMIM:162150 PCSK1 skos:exactMatch hgnc.symbol:PCSK1 semapv:UnspecifiedMatching OMIM:162150 PCSK1 skos:exactMatch ncbigene:5122 semapv:UnspecifiedMatching -OMIM:162151 PCSK2 skos:exactMatch hgnc:PCSK2 semapv:UnspecifiedMatching +OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:8744 semapv:UnspecifiedMatching +OMIM:162151 PCSK2 skos:exactMatch hgnc.symbol:PCSK2 semapv:UnspecifiedMatching OMIM:162151 PCSK2 skos:exactMatch ncbigene:5126 semapv:UnspecifiedMatching +OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:363700 semapv:UnspecifiedMatching +OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching -OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch orphanet.ordo:363700 semapv:UnspecifiedMatching -OMIM:162200 neurofibromatosis, iia 1 skos:exactMatch orphanet.ordo:636 semapv:UnspecifiedMatching -OMIM:162230 NEFH skos:exactMatch hgnc:NEFH semapv:UnspecifiedMatching +OMIM:162230 NEFH skos:exactMatch hgnc.symbol:7737 semapv:UnspecifiedMatching +OMIM:162230 NEFH skos:exactMatch hgnc.symbol:NEFH semapv:UnspecifiedMatching OMIM:162230 NEFH skos:exactMatch ncbigene:4744 semapv:UnspecifiedMatching -OMIM:162250 NEFM skos:exactMatch hgnc:NEFM semapv:UnspecifiedMatching +OMIM:162250 NEFM skos:exactMatch hgnc.symbol:7734 semapv:UnspecifiedMatching +OMIM:162250 NEFM skos:exactMatch hgnc.symbol:NEFM semapv:UnspecifiedMatching OMIM:162250 NEFM skos:exactMatch ncbigene:4741 semapv:UnspecifiedMatching -OMIM:162280 NEFL skos:exactMatch hgnc:NEFL semapv:UnspecifiedMatching +OMIM:162280 NEFL skos:exactMatch hgnc.symbol:7739 semapv:UnspecifiedMatching +OMIM:162280 NEFL skos:exactMatch hgnc.symbol:NEFL semapv:UnspecifiedMatching OMIM:162280 NEFL skos:exactMatch ncbigene:4747 semapv:UnspecifiedMatching -OMIM:162320 TAC1 skos:exactMatch hgnc:TAC1 semapv:UnspecifiedMatching +OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:11517 semapv:UnspecifiedMatching +OMIM:162320 TAC1 skos:exactMatch hgnc.symbol:TAC1 semapv:UnspecifiedMatching OMIM:162320 TAC1 skos:exactMatch ncbigene:6863 semapv:UnspecifiedMatching -OMIM:162321 TACR2 skos:exactMatch hgnc:TACR2 semapv:UnspecifiedMatching +OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:11527 semapv:UnspecifiedMatching +OMIM:162321 TACR2 skos:exactMatch hgnc.symbol:TACR2 semapv:UnspecifiedMatching OMIM:162321 TACR2 skos:exactMatch ncbigene:6865 semapv:UnspecifiedMatching -OMIM:162323 TACR1 skos:exactMatch hgnc:TACR1 semapv:UnspecifiedMatching +OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:11526 semapv:UnspecifiedMatching +OMIM:162323 TACR1 skos:exactMatch hgnc.symbol:TACR1 semapv:UnspecifiedMatching OMIM:162323 TACR1 skos:exactMatch ncbigene:6869 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch UMLS:C1420564 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch UMLS:C3553843 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch UMLS:C4016274 semapv:UnspecifiedMatching -OMIM:162330 TAC3 skos:exactMatch hgnc:TAC3 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:11521 semapv:UnspecifiedMatching +OMIM:162330 TAC3 skos:exactMatch hgnc.symbol:TAC3 semapv:UnspecifiedMatching OMIM:162330 TAC3 skos:exactMatch ncbigene:6866 semapv:UnspecifiedMatching -OMIM:162332 TACR3 skos:exactMatch hgnc:TACR3 semapv:UnspecifiedMatching +OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:11528 semapv:UnspecifiedMatching +OMIM:162332 TACR3 skos:exactMatch hgnc.symbol:TACR3 semapv:UnspecifiedMatching OMIM:162332 TACR3 skos:exactMatch ncbigene:6870 semapv:UnspecifiedMatching -OMIM:162340 NMB skos:exactMatch hgnc:NMB semapv:UnspecifiedMatching +OMIM:162340 NMB skos:exactMatch hgnc.symbol:7842 semapv:UnspecifiedMatching +OMIM:162340 NMB skos:exactMatch hgnc.symbol:NMB semapv:UnspecifiedMatching OMIM:162340 NMB skos:exactMatch ncbigene:4828 semapv:UnspecifiedMatching -OMIM:162341 NMBR skos:exactMatch hgnc:NMBR semapv:UnspecifiedMatching +OMIM:162341 NMBR skos:exactMatch hgnc.symbol:7843 semapv:UnspecifiedMatching +OMIM:162341 NMBR skos:exactMatch hgnc.symbol:NMBR semapv:UnspecifiedMatching OMIM:162341 NMBR skos:exactMatch ncbigene:4829 semapv:UnspecifiedMatching -OMIM:162360 NHLH1 skos:exactMatch hgnc:NHLH1 semapv:UnspecifiedMatching +OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:7817 semapv:UnspecifiedMatching +OMIM:162360 NHLH1 skos:exactMatch hgnc.symbol:NHLH1 semapv:UnspecifiedMatching OMIM:162360 NHLH1 skos:exactMatch ncbigene:4807 semapv:UnspecifiedMatching -OMIM:162361 NHLH2 skos:exactMatch hgnc:NHLH2 semapv:UnspecifiedMatching +OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:7818 semapv:UnspecifiedMatching +OMIM:162361 NHLH2 skos:exactMatch hgnc.symbol:NHLH2 semapv:UnspecifiedMatching OMIM:162361 NHLH2 skos:exactMatch ncbigene:4808 semapv:UnspecifiedMatching +OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C0020071 semapv:UnspecifiedMatching OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching -OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a skos:exactMatch orphanet.ordo:36386 semapv:UnspecifiedMatching -OMIM:162640 NPY skos:exactMatch hgnc:NPY semapv:UnspecifiedMatching +OMIM:162640 NPY skos:exactMatch hgnc.symbol:7955 semapv:UnspecifiedMatching +OMIM:162640 NPY skos:exactMatch hgnc.symbol:NPY semapv:UnspecifiedMatching OMIM:162640 NPY skos:exactMatch ncbigene:4852 semapv:UnspecifiedMatching -OMIM:162641 NPY1R skos:exactMatch hgnc:NPY1R semapv:UnspecifiedMatching +OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:7956 semapv:UnspecifiedMatching +OMIM:162641 NPY1R skos:exactMatch hgnc.symbol:NPY1R semapv:UnspecifiedMatching OMIM:162641 NPY1R skos:exactMatch ncbigene:4886 semapv:UnspecifiedMatching -OMIM:162642 NPY2R skos:exactMatch hgnc:NPY2R semapv:UnspecifiedMatching +OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:7957 semapv:UnspecifiedMatching +OMIM:162642 NPY2R skos:exactMatch hgnc.symbol:NPY2R semapv:UnspecifiedMatching OMIM:162642 NPY2R skos:exactMatch ncbigene:4887 semapv:UnspecifiedMatching -OMIM:162643 CXCR4 skos:exactMatch hgnc:CXCR4 semapv:UnspecifiedMatching +OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:2561 semapv:UnspecifiedMatching +OMIM:162643 CXCR4 skos:exactMatch hgnc.symbol:CXCR4 semapv:UnspecifiedMatching OMIM:162643 CXCR4 skos:exactMatch ncbigene:7852 semapv:UnspecifiedMatching -OMIM:162650 NTS skos:exactMatch hgnc:NTS semapv:UnspecifiedMatching +OMIM:162650 NTS skos:exactMatch hgnc.symbol:8038 semapv:UnspecifiedMatching +OMIM:162650 NTS skos:exactMatch hgnc.symbol:NTS semapv:UnspecifiedMatching OMIM:162650 NTS skos:exactMatch ncbigene:4922 semapv:UnspecifiedMatching OMIM:162651 NTSR1 skos:exactMatch UMLS:C1417870 semapv:UnspecifiedMatching -OMIM:162651 NTSR1 skos:exactMatch hgnc:NTSR1 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:8039 semapv:UnspecifiedMatching +OMIM:162651 NTSR1 skos:exactMatch hgnc.symbol:NTSR1 semapv:UnspecifiedMatching OMIM:162651 NTSR1 skos:exactMatch ncbigene:4923 semapv:UnspecifiedMatching -OMIM:162660 NTF3 skos:exactMatch hgnc:NTF3 semapv:UnspecifiedMatching +OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:8023 semapv:UnspecifiedMatching +OMIM:162660 NTF3 skos:exactMatch hgnc.symbol:NTF3 semapv:UnspecifiedMatching OMIM:162660 NTF3 skos:exactMatch ncbigene:4908 semapv:UnspecifiedMatching -OMIM:162662 NTF4 skos:exactMatch hgnc:NTF4 semapv:UnspecifiedMatching +OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:8024 semapv:UnspecifiedMatching +OMIM:162662 NTF4 skos:exactMatch hgnc.symbol:NTF4 semapv:UnspecifiedMatching OMIM:162662 NTF4 skos:exactMatch ncbigene:4909 semapv:UnspecifiedMatching -OMIM:162815 NAZC skos:exactMatch hgnc:AZU1 semapv:UnspecifiedMatching +OMIM:162815 NAZC skos:exactMatch hgnc.symbol:913 semapv:UnspecifiedMatching +OMIM:162815 NAZC skos:exactMatch hgnc.symbol:AZU1 semapv:UnspecifiedMatching OMIM:162815 NAZC skos:exactMatch ncbigene:566 semapv:UnspecifiedMatching -OMIM:162860 CD177 skos:exactMatch hgnc:CD177 semapv:UnspecifiedMatching +OMIM:162860 CD177 skos:exactMatch hgnc.symbol:30072 semapv:UnspecifiedMatching +OMIM:162860 CD177 skos:exactMatch hgnc.symbol:CD177 semapv:UnspecifiedMatching OMIM:162860 CD177 skos:exactMatch ncbigene:57126 semapv:UnspecifiedMatching +OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch Orphanet:2612 semapv:UnspecifiedMatching OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch UMLS:C4552097 semapv:UnspecifiedMatching -OMIM:163200 schimmelpenning-feuerstein-mims syndrome skos:exactMatch orphanet.ordo:2612 semapv:UnspecifiedMatching -OMIM:163260 NFE2L1 skos:exactMatch hgnc:NFE2L1 semapv:UnspecifiedMatching +OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:7781 semapv:UnspecifiedMatching +OMIM:163260 NFE2L1 skos:exactMatch hgnc.symbol:NFE2L1 semapv:UnspecifiedMatching OMIM:163260 NFE2L1 skos:exactMatch ncbigene:4779 semapv:UnspecifiedMatching -OMIM:163729 NOS3 skos:exactMatch hgnc:NOS3 semapv:UnspecifiedMatching +OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:7876 semapv:UnspecifiedMatching +OMIM:163729 NOS3 skos:exactMatch hgnc.symbol:NOS3 semapv:UnspecifiedMatching OMIM:163729 NOS3 skos:exactMatch ncbigene:4846 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch UMLS:C1417760 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch UMLS:C1970030 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:163730 NOS2 skos:exactMatch hgnc:NOS2 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:7873 semapv:UnspecifiedMatching +OMIM:163730 NOS2 skos:exactMatch hgnc.symbol:NOS2 semapv:UnspecifiedMatching OMIM:163730 NOS2 skos:exactMatch ncbigene:4843 semapv:UnspecifiedMatching -OMIM:163731 NOS1 skos:exactMatch hgnc:NOS1 semapv:UnspecifiedMatching +OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:7872 semapv:UnspecifiedMatching +OMIM:163731 NOS1 skos:exactMatch hgnc.symbol:NOS1 semapv:UnspecifiedMatching OMIM:163731 NOS1 skos:exactMatch ncbigene:4842 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C0752347 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C1420276 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C1854182 semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch UMLS:C1868595 semapv:UnspecifiedMatching -OMIM:163890 SNCA skos:exactMatch hgnc:SNCA semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch hgnc.symbol:11138 semapv:UnspecifiedMatching +OMIM:163890 SNCA skos:exactMatch hgnc.symbol:SNCA semapv:UnspecifiedMatching OMIM:163890 SNCA skos:exactMatch ncbigene:6622 semapv:UnspecifiedMatching -OMIM:163905 HMGB1 skos:exactMatch hgnc:HMGB1 semapv:UnspecifiedMatching +OMIM:163905 HMGB1 skos:exactMatch hgnc.symbol:4983 semapv:UnspecifiedMatching +OMIM:163905 HMGB1 skos:exactMatch hgnc.symbol:HMGB1 semapv:UnspecifiedMatching OMIM:163905 HMGB1 skos:exactMatch ncbigene:3146 semapv:UnspecifiedMatching -OMIM:163906 HMGB2 skos:exactMatch hgnc:HMGB2 semapv:UnspecifiedMatching +OMIM:163906 HMGB2 skos:exactMatch hgnc.symbol:5000 semapv:UnspecifiedMatching +OMIM:163906 HMGB2 skos:exactMatch hgnc.symbol:HMGB2 semapv:UnspecifiedMatching OMIM:163906 HMGB2 skos:exactMatch ncbigene:3148 semapv:UnspecifiedMatching -OMIM:163910 HMGN2 skos:exactMatch hgnc:HMGN2 semapv:UnspecifiedMatching +OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:4986 semapv:UnspecifiedMatching +OMIM:163910 HMGN2 skos:exactMatch hgnc.symbol:HMGN2 semapv:UnspecifiedMatching OMIM:163910 HMGN2 skos:exactMatch ncbigene:3151 semapv:UnspecifiedMatching -OMIM:163920 HMGN1 skos:exactMatch hgnc:HMGN1 semapv:UnspecifiedMatching +OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:4984 semapv:UnspecifiedMatching +OMIM:163920 HMGN1 skos:exactMatch hgnc.symbol:HMGN1 semapv:UnspecifiedMatching OMIM:163920 HMGN1 skos:exactMatch ncbigene:3150 semapv:UnspecifiedMatching +OMIM:163950 noonan syndrome 1 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C0041409 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C1527404 semapv:UnspecifiedMatching OMIM:163950 noonan syndrome 1 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching -OMIM:163950 noonan syndrome 1 skos:exactMatch orphanet.ordo:648 semapv:UnspecifiedMatching -OMIM:163970 SLC6A2 skos:exactMatch hgnc:SLC6A2 semapv:UnspecifiedMatching +OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:11048 semapv:UnspecifiedMatching +OMIM:163970 SLC6A2 skos:exactMatch hgnc.symbol:SLC6A2 semapv:UnspecifiedMatching OMIM:163970 SLC6A2 skos:exactMatch ncbigene:6530 semapv:UnspecifiedMatching -OMIM:163980 CEACAM6 skos:exactMatch hgnc:CEACAM6 semapv:UnspecifiedMatching +OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:1818 semapv:UnspecifiedMatching +OMIM:163980 CEACAM6 skos:exactMatch hgnc.symbol:CEACAM6 semapv:UnspecifiedMatching OMIM:163980 CEACAM6 skos:exactMatch ncbigene:4680 semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch UMLS:C1417707 semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching -OMIM:164005 NFIX skos:exactMatch hgnc:NFIX semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch hgnc.symbol:7788 semapv:UnspecifiedMatching +OMIM:164005 NFIX skos:exactMatch hgnc.symbol:NFIX semapv:UnspecifiedMatching OMIM:164005 NFIX skos:exactMatch ncbigene:4784 semapv:UnspecifiedMatching OMIM:164008 NFKBIA skos:exactMatch UMLS:C1334877 semapv:UnspecifiedMatching OMIM:164008 NFKBIA skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching -OMIM:164008 NFKBIA skos:exactMatch hgnc:NFKBIA semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:7797 semapv:UnspecifiedMatching +OMIM:164008 NFKBIA skos:exactMatch hgnc.symbol:NFKBIA semapv:UnspecifiedMatching OMIM:164008 NFKBIA skos:exactMatch ncbigene:4792 semapv:UnspecifiedMatching -OMIM:164009 NUMA1 skos:exactMatch hgnc:NUMA1 semapv:UnspecifiedMatching +OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:8059 semapv:UnspecifiedMatching +OMIM:164009 NUMA1 skos:exactMatch hgnc.symbol:NUMA1 semapv:UnspecifiedMatching OMIM:164009 NUMA1 skos:exactMatch ncbigene:4926 semapv:UnspecifiedMatching OMIM:164010 CHMP1A skos:exactMatch UMLS:C1418385 semapv:UnspecifiedMatching OMIM:164010 CHMP1A skos:exactMatch UMLS:C3554209 semapv:UnspecifiedMatching -OMIM:164010 CHMP1A skos:exactMatch hgnc:CHMP1A semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:8740 semapv:UnspecifiedMatching +OMIM:164010 CHMP1A skos:exactMatch hgnc.symbol:CHMP1A semapv:UnspecifiedMatching OMIM:164010 CHMP1A skos:exactMatch ncbigene:5119 semapv:UnspecifiedMatching OMIM:164011 NFKB1 skos:exactMatch UMLS:C1417708 semapv:UnspecifiedMatching OMIM:164011 NFKB1 skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching -OMIM:164011 NFKB1 skos:exactMatch hgnc:NFKB1 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:7794 semapv:UnspecifiedMatching +OMIM:164011 NFKB1 skos:exactMatch hgnc.symbol:NFKB1 semapv:UnspecifiedMatching OMIM:164011 NFKB1 skos:exactMatch ncbigene:4790 semapv:UnspecifiedMatching OMIM:164012 NFKB2 skos:exactMatch UMLS:C0812286 semapv:UnspecifiedMatching OMIM:164012 NFKB2 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching -OMIM:164012 NFKB2 skos:exactMatch hgnc:NFKB2 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:7795 semapv:UnspecifiedMatching +OMIM:164012 NFKB2 skos:exactMatch hgnc.symbol:NFKB2 semapv:UnspecifiedMatching OMIM:164012 NFKB2 skos:exactMatch ncbigene:4791 semapv:UnspecifiedMatching -OMIM:164013 NFRKB skos:exactMatch hgnc:NFRKB semapv:UnspecifiedMatching +OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:7802 semapv:UnspecifiedMatching +OMIM:164013 NFRKB skos:exactMatch hgnc.symbol:NFRKB semapv:UnspecifiedMatching OMIM:164013 NFRKB skos:exactMatch ncbigene:4798 semapv:UnspecifiedMatching OMIM:164014 RELA skos:exactMatch UMLS:C1335610 semapv:UnspecifiedMatching OMIM:164014 RELA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:164014 RELA skos:exactMatch UMLS:C4748997 semapv:UnspecifiedMatching -OMIM:164014 RELA skos:exactMatch hgnc:RELA semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch hgnc.symbol:9955 semapv:UnspecifiedMatching +OMIM:164014 RELA skos:exactMatch hgnc.symbol:RELA semapv:UnspecifiedMatching OMIM:164014 RELA skos:exactMatch ncbigene:5970 semapv:UnspecifiedMatching -OMIM:164015 MATR3 skos:exactMatch hgnc:MATR3 semapv:UnspecifiedMatching +OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:6912 semapv:UnspecifiedMatching +OMIM:164015 MATR3 skos:exactMatch hgnc.symbol:MATR3 semapv:UnspecifiedMatching OMIM:164015 MATR3 skos:exactMatch ncbigene:9782 semapv:UnspecifiedMatching -OMIM:164017 HNRNPA1 skos:exactMatch hgnc:HNRNPA1 semapv:UnspecifiedMatching +OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:5031 semapv:UnspecifiedMatching +OMIM:164017 HNRNPA1 skos:exactMatch hgnc.symbol:HNRNPA1 semapv:UnspecifiedMatching OMIM:164017 HNRNPA1 skos:exactMatch ncbigene:3178 semapv:UnspecifiedMatching OMIM:164020 HNRNPC skos:exactMatch UMLS:C1415637 semapv:UnspecifiedMatching -OMIM:164020 HNRNPC skos:exactMatch hgnc:HNRNPC semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:5035 semapv:UnspecifiedMatching +OMIM:164020 HNRNPC skos:exactMatch hgnc.symbol:HNRNPC semapv:UnspecifiedMatching OMIM:164020 HNRNPC skos:exactMatch ncbigene:3183 semapv:UnspecifiedMatching -OMIM:164031 NOP2 skos:exactMatch hgnc:NOP2 semapv:UnspecifiedMatching +OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:7867 semapv:UnspecifiedMatching +OMIM:164031 NOP2 skos:exactMatch hgnc.symbol:NOP2 semapv:UnspecifiedMatching OMIM:164031 NOP2 skos:exactMatch ncbigene:4839 semapv:UnspecifiedMatching -OMIM:164035 NCL skos:exactMatch hgnc:NCL semapv:UnspecifiedMatching +OMIM:164035 NCL skos:exactMatch hgnc.symbol:7667 semapv:UnspecifiedMatching +OMIM:164035 NCL skos:exactMatch hgnc.symbol:NCL semapv:UnspecifiedMatching OMIM:164035 NCL skos:exactMatch ncbigene:4691 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch UMLS:C1334894 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:164040 NPM1 skos:exactMatch hgnc:NPM1 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:7910 semapv:UnspecifiedMatching +OMIM:164040 NPM1 skos:exactMatch hgnc.symbol:NPM1 semapv:UnspecifiedMatching OMIM:164040 NPM1 skos:exactMatch ncbigene:4869 semapv:UnspecifiedMatching -OMIM:164050 PNP skos:exactMatch hgnc:PNP semapv:UnspecifiedMatching +OMIM:164050 PNP skos:exactMatch hgnc.symbol:7892 semapv:UnspecifiedMatching +OMIM:164050 PNP skos:exactMatch hgnc.symbol:PNP semapv:UnspecifiedMatching OMIM:164050 PNP skos:exactMatch ncbigene:4860 semapv:UnspecifiedMatching -OMIM:164060 NAP1L1 skos:exactMatch hgnc:NAP1L1 semapv:UnspecifiedMatching +OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:7637 semapv:UnspecifiedMatching +OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:NAP1L1 semapv:UnspecifiedMatching OMIM:164060 NAP1L1 skos:exactMatch ncbigene:4673 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C1416825 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C3554224 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C4016279 semapv:UnspecifiedMatching -OMIM:164160 LEP skos:exactMatch hgnc:LEP semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch hgnc.symbol:6553 semapv:UnspecifiedMatching +OMIM:164160 LEP skos:exactMatch hgnc.symbol:LEP semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch ncbigene:3952 semapv:UnspecifiedMatching -OMIM:164175 POU2F1 skos:exactMatch hgnc:POU2F1 semapv:UnspecifiedMatching +OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:9212 semapv:UnspecifiedMatching +OMIM:164175 POU2F1 skos:exactMatch hgnc.symbol:POU2F1 semapv:UnspecifiedMatching OMIM:164175 POU2F1 skos:exactMatch ncbigene:5451 semapv:UnspecifiedMatching -OMIM:164176 POU2F2 skos:exactMatch hgnc:POU2F2 semapv:UnspecifiedMatching +OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:9213 semapv:UnspecifiedMatching +OMIM:164176 POU2F2 skos:exactMatch hgnc.symbol:POU2F2 semapv:UnspecifiedMatching OMIM:164176 POU2F2 skos:exactMatch ncbigene:5452 semapv:UnspecifiedMatching -OMIM:164177 POU5F1 skos:exactMatch hgnc:POU5F1 semapv:UnspecifiedMatching +OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:9221 semapv:UnspecifiedMatching +OMIM:164177 POU5F1 skos:exactMatch hgnc.symbol:POU5F1 semapv:UnspecifiedMatching OMIM:164177 POU5F1 skos:exactMatch ncbigene:5460 semapv:UnspecifiedMatching +OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C1834014 semapv:UnspecifiedMatching OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch UMLS:C5231388 semapv:UnspecifiedMatching -OMIM:164310 oculopharyngodistal myopathy 1 skos:exactMatch orphanet.ordo:98897 semapv:UnspecifiedMatching -OMIM:164320 OBP2A skos:exactMatch hgnc:OBP2A semapv:UnspecifiedMatching +OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:23380 semapv:UnspecifiedMatching +OMIM:164320 OBP2A skos:exactMatch hgnc.symbol:OBP2A semapv:UnspecifiedMatching OMIM:164320 OBP2A skos:exactMatch ncbigene:29991 semapv:UnspecifiedMatching -OMIM:164340 OMP skos:exactMatch hgnc:OMP semapv:UnspecifiedMatching +OMIM:164340 OMP skos:exactMatch hgnc.symbol:8136 semapv:UnspecifiedMatching +OMIM:164340 OMP skos:exactMatch hgnc.symbol:OMP semapv:UnspecifiedMatching OMIM:164340 OMP skos:exactMatch ncbigene:4975 semapv:UnspecifiedMatching -OMIM:164342 OR1D2 skos:exactMatch hgnc:OR1D2 semapv:UnspecifiedMatching +OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:8183 semapv:UnspecifiedMatching +OMIM:164342 OR1D2 skos:exactMatch hgnc.symbol:OR1D2 semapv:UnspecifiedMatching OMIM:164342 OR1D2 skos:exactMatch ncbigene:4991 semapv:UnspecifiedMatching -OMIM:164343 EBF1 skos:exactMatch hgnc:EBF1 semapv:UnspecifiedMatching +OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:3126 semapv:UnspecifiedMatching +OMIM:164343 EBF1 skos:exactMatch hgnc.symbol:EBF1 semapv:UnspecifiedMatching OMIM:164343 EBF1 skos:exactMatch ncbigene:1879 semapv:UnspecifiedMatching -OMIM:164345 OMG skos:exactMatch hgnc:OMG semapv:UnspecifiedMatching +OMIM:164345 OMG skos:exactMatch hgnc.symbol:8135 semapv:UnspecifiedMatching +OMIM:164345 OMG skos:exactMatch hgnc.symbol:OMG semapv:UnspecifiedMatching OMIM:164345 OMG skos:exactMatch ncbigene:4974 semapv:UnspecifiedMatching -OMIM:164350 OAS1 skos:exactMatch hgnc:OAS1 semapv:UnspecifiedMatching +OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:8086 semapv:UnspecifiedMatching +OMIM:164350 OAS1 skos:exactMatch hgnc.symbol:OAS1 semapv:UnspecifiedMatching OMIM:164350 OAS1 skos:exactMatch ncbigene:4938 semapv:UnspecifiedMatching OMIM:164360 ATP5F1A skos:exactMatch UMLS:C1412647 semapv:UnspecifiedMatching OMIM:164360 ATP5F1A skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching OMIM:164360 ATP5F1A skos:exactMatch UMLS:C4015062 semapv:UnspecifiedMatching -OMIM:164360 ATP5F1A skos:exactMatch hgnc:ATP5F1A semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:823 semapv:UnspecifiedMatching +OMIM:164360 ATP5F1A skos:exactMatch hgnc.symbol:ATP5F1A semapv:UnspecifiedMatching OMIM:164360 ATP5F1A skos:exactMatch ncbigene:498 semapv:UnspecifiedMatching OMIM:164690 ABL2 skos:exactMatch UMLS:C0812381 semapv:UnspecifiedMatching -OMIM:164690 ABL2 skos:exactMatch hgnc:ABL2 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:77 semapv:UnspecifiedMatching +OMIM:164690 ABL2 skos:exactMatch hgnc.symbol:ABL2 semapv:UnspecifiedMatching OMIM:164690 ABL2 skos:exactMatch ncbigene:27 semapv:UnspecifiedMatching -OMIM:164720 ETS1 skos:exactMatch hgnc:ETS1 semapv:UnspecifiedMatching +OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:3488 semapv:UnspecifiedMatching +OMIM:164720 ETS1 skos:exactMatch hgnc.symbol:ETS1 semapv:UnspecifiedMatching OMIM:164720 ETS1 skos:exactMatch ncbigene:2113 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch UMLS:C0812228 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching @@ -4271,13 +5719,17 @@ OMIM:164730 AKT1 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch UMLS:C3277233 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch UMLS:C3554519 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching -OMIM:164730 AKT1 skos:exactMatch hgnc:AKT1 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:391 semapv:UnspecifiedMatching +OMIM:164730 AKT1 skos:exactMatch hgnc.symbol:AKT1 semapv:UnspecifiedMatching OMIM:164730 AKT1 skos:exactMatch ncbigene:207 semapv:UnspecifiedMatching -OMIM:164731 AKT2 skos:exactMatch hgnc:AKT2 semapv:UnspecifiedMatching +OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:392 semapv:UnspecifiedMatching +OMIM:164731 AKT2 skos:exactMatch hgnc.symbol:AKT2 semapv:UnspecifiedMatching OMIM:164731 AKT2 skos:exactMatch ncbigene:208 semapv:UnspecifiedMatching -OMIM:164740 ETS2 skos:exactMatch hgnc:ETS2 semapv:UnspecifiedMatching +OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:3489 semapv:UnspecifiedMatching +OMIM:164740 ETS2 skos:exactMatch hgnc.symbol:ETS2 semapv:UnspecifiedMatching OMIM:164740 ETS2 skos:exactMatch ncbigene:2114 semapv:UnspecifiedMatching -OMIM:164755 VIS1 skos:exactMatch hgnc:VIS1 semapv:UnspecifiedMatching +OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:12696 semapv:UnspecifiedMatching +OMIM:164755 VIS1 skos:exactMatch hgnc.symbol:VIS1 semapv:UnspecifiedMatching OMIM:164755 VIS1 skos:exactMatch ncbigene:7435 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C0812241 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C1275081 semapv:UnspecifiedMatching @@ -4293,41 +5745,57 @@ OMIM:164757 BRAF skos:exactMatch UMLS:C3837430 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch UMLS:C4016284 semapv:UnspecifiedMatching -OMIM:164757 BRAF skos:exactMatch hgnc:BRAF semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch hgnc.symbol:1097 semapv:UnspecifiedMatching +OMIM:164757 BRAF skos:exactMatch hgnc.symbol:BRAF semapv:UnspecifiedMatching OMIM:164757 BRAF skos:exactMatch ncbigene:673 semapv:UnspecifiedMatching -OMIM:164760 RAF1 skos:exactMatch hgnc:RAF1 semapv:UnspecifiedMatching +OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:9829 semapv:UnspecifiedMatching +OMIM:164760 RAF1 skos:exactMatch hgnc.symbol:RAF1 semapv:UnspecifiedMatching OMIM:164760 RAF1 skos:exactMatch ncbigene:5894 semapv:UnspecifiedMatching -OMIM:164761 RET skos:exactMatch hgnc:RET semapv:UnspecifiedMatching +OMIM:164761 RET skos:exactMatch hgnc.symbol:9967 semapv:UnspecifiedMatching +OMIM:164761 RET skos:exactMatch hgnc.symbol:RET semapv:UnspecifiedMatching OMIM:164761 RET skos:exactMatch ncbigene:5979 semapv:UnspecifiedMatching -OMIM:164762 CRK skos:exactMatch hgnc:CRK semapv:UnspecifiedMatching +OMIM:164762 CRK skos:exactMatch hgnc.symbol:2362 semapv:UnspecifiedMatching +OMIM:164762 CRK skos:exactMatch hgnc.symbol:CRK semapv:UnspecifiedMatching OMIM:164762 CRK skos:exactMatch ncbigene:1398 semapv:UnspecifiedMatching -OMIM:164765 CTTN skos:exactMatch hgnc:CTTN semapv:UnspecifiedMatching +OMIM:164765 CTTN skos:exactMatch hgnc.symbol:3338 semapv:UnspecifiedMatching +OMIM:164765 CTTN skos:exactMatch hgnc.symbol:CTTN semapv:UnspecifiedMatching OMIM:164765 CTTN skos:exactMatch ncbigene:2017 semapv:UnspecifiedMatching -OMIM:164770 CSF1R skos:exactMatch hgnc:CSF1R semapv:UnspecifiedMatching +OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:2433 semapv:UnspecifiedMatching +OMIM:164770 CSF1R skos:exactMatch hgnc.symbol:CSF1R semapv:UnspecifiedMatching OMIM:164770 CSF1R skos:exactMatch ncbigene:1436 semapv:UnspecifiedMatching OMIM:164772 FOSB skos:exactMatch UMLS:C1333571 semapv:UnspecifiedMatching -OMIM:164772 FOSB skos:exactMatch hgnc:FOSB semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch hgnc.symbol:3797 semapv:UnspecifiedMatching +OMIM:164772 FOSB skos:exactMatch hgnc.symbol:FOSB semapv:UnspecifiedMatching OMIM:164772 FOSB skos:exactMatch ncbigene:2354 semapv:UnspecifiedMatching -OMIM:164780 SKI skos:exactMatch hgnc:SKI semapv:UnspecifiedMatching +OMIM:164780 SKI skos:exactMatch hgnc.symbol:10896 semapv:UnspecifiedMatching +OMIM:164780 SKI skos:exactMatch hgnc.symbol:SKI semapv:UnspecifiedMatching OMIM:164780 SKI skos:exactMatch ncbigene:6497 semapv:UnspecifiedMatching -OMIM:164785 MDM2 skos:exactMatch hgnc:MDM2 semapv:UnspecifiedMatching +OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:6973 semapv:UnspecifiedMatching +OMIM:164785 MDM2 skos:exactMatch hgnc.symbol:MDM2 semapv:UnspecifiedMatching OMIM:164785 MDM2 skos:exactMatch ncbigene:4193 semapv:UnspecifiedMatching -OMIM:164790 NRAS skos:exactMatch hgnc:NRAS semapv:UnspecifiedMatching +OMIM:164790 NRAS skos:exactMatch hgnc.symbol:7989 semapv:UnspecifiedMatching +OMIM:164790 NRAS skos:exactMatch hgnc.symbol:NRAS semapv:UnspecifiedMatching OMIM:164790 NRAS skos:exactMatch ncbigene:4893 semapv:UnspecifiedMatching -OMIM:164795 OCM skos:exactMatch hgnc:OCM semapv:UnspecifiedMatching +OMIM:164795 OCM skos:exactMatch hgnc.symbol:8105 semapv:UnspecifiedMatching +OMIM:164795 OCM skos:exactMatch hgnc.symbol:OCM semapv:UnspecifiedMatching OMIM:164795 OCM skos:exactMatch ncbigene:654231 semapv:UnspecifiedMatching OMIM:164810 FOS skos:exactMatch UMLS:C0087140 semapv:UnspecifiedMatching -OMIM:164810 FOS skos:exactMatch hgnc:FOS semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch hgnc.symbol:3796 semapv:UnspecifiedMatching +OMIM:164810 FOS skos:exactMatch hgnc.symbol:FOS semapv:UnspecifiedMatching OMIM:164810 FOS skos:exactMatch ncbigene:2353 semapv:UnspecifiedMatching -OMIM:164820 WNT1 skos:exactMatch hgnc:WNT1 semapv:UnspecifiedMatching +OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:12774 semapv:UnspecifiedMatching +OMIM:164820 WNT1 skos:exactMatch hgnc.symbol:WNT1 semapv:UnspecifiedMatching OMIM:164820 WNT1 skos:exactMatch ncbigene:7471 semapv:UnspecifiedMatching OMIM:164831 BMI1 skos:exactMatch UMLS:C1826623 semapv:UnspecifiedMatching -OMIM:164831 BMI1 skos:exactMatch hgnc:BMI1 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:1066 semapv:UnspecifiedMatching +OMIM:164831 BMI1 skos:exactMatch hgnc.symbol:BMI1 semapv:UnspecifiedMatching OMIM:164831 BMI1 skos:exactMatch ncbigene:648 semapv:UnspecifiedMatching -OMIM:164840 MYCN skos:exactMatch hgnc:MYCN semapv:UnspecifiedMatching +OMIM:164840 MYCN skos:exactMatch hgnc.symbol:7559 semapv:UnspecifiedMatching +OMIM:164840 MYCN skos:exactMatch hgnc.symbol:MYCN semapv:UnspecifiedMatching OMIM:164840 MYCN skos:exactMatch ncbigene:4613 semapv:UnspecifiedMatching OMIM:164850 MYCL skos:exactMatch UMLS:C0812289 semapv:UnspecifiedMatching -OMIM:164850 MYCL skos:exactMatch hgnc:MYCL semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch hgnc.symbol:7555 semapv:UnspecifiedMatching +OMIM:164850 MYCL skos:exactMatch hgnc.symbol:MYCL semapv:UnspecifiedMatching OMIM:164850 MYCL skos:exactMatch ncbigene:4610 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C1336839 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C1417123 semapv:UnspecifiedMatching @@ -4336,307 +5804,423 @@ OMIM:164860 MET skos:exactMatch UMLS:C4016289 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4016290 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4084709 semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch UMLS:C4085248 semapv:UnspecifiedMatching -OMIM:164860 MET skos:exactMatch hgnc:MET semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch hgnc.symbol:7029 semapv:UnspecifiedMatching +OMIM:164860 MET skos:exactMatch hgnc.symbol:MET semapv:UnspecifiedMatching OMIM:164860 MET skos:exactMatch ncbigene:4233 semapv:UnspecifiedMatching -OMIM:164870 ERBB2 skos:exactMatch hgnc:ERBB2 semapv:UnspecifiedMatching +OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:3430 semapv:UnspecifiedMatching +OMIM:164870 ERBB2 skos:exactMatch hgnc.symbol:ERBB2 semapv:UnspecifiedMatching OMIM:164870 ERBB2 skos:exactMatch ncbigene:2064 semapv:UnspecifiedMatching -OMIM:164873 ETV3 skos:exactMatch hgnc:ETV3 semapv:UnspecifiedMatching +OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:3492 semapv:UnspecifiedMatching +OMIM:164873 ETV3 skos:exactMatch hgnc.symbol:ETV3 semapv:UnspecifiedMatching OMIM:164873 ETV3 skos:exactMatch ncbigene:2117 semapv:UnspecifiedMatching -OMIM:164874 FOXG1 skos:exactMatch hgnc:FOXG1 semapv:UnspecifiedMatching +OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:3811 semapv:UnspecifiedMatching +OMIM:164874 FOXG1 skos:exactMatch hgnc.symbol:FOXG1 semapv:UnspecifiedMatching OMIM:164874 FOXG1 skos:exactMatch ncbigene:2290 semapv:UnspecifiedMatching -OMIM:164875 VAV1 skos:exactMatch hgnc:VAV1 semapv:UnspecifiedMatching +OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:12657 semapv:UnspecifiedMatching +OMIM:164875 VAV1 skos:exactMatch hgnc.symbol:VAV1 semapv:UnspecifiedMatching OMIM:164875 VAV1 skos:exactMatch ncbigene:7409 semapv:UnspecifiedMatching -OMIM:164880 YES1 skos:exactMatch hgnc:YES1 semapv:UnspecifiedMatching +OMIM:164880 YES1 skos:exactMatch hgnc.symbol:12841 semapv:UnspecifiedMatching +OMIM:164880 YES1 skos:exactMatch hgnc.symbol:YES1 semapv:UnspecifiedMatching OMIM:164880 YES1 skos:exactMatch ncbigene:7525 semapv:UnspecifiedMatching OMIM:164910 REL skos:exactMatch UMLS:C0035018 semapv:UnspecifiedMatching -OMIM:164910 REL skos:exactMatch hgnc:REL semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch hgnc.symbol:9954 semapv:UnspecifiedMatching +OMIM:164910 REL skos:exactMatch hgnc.symbol:REL semapv:UnspecifiedMatching OMIM:164910 REL skos:exactMatch ncbigene:5966 semapv:UnspecifiedMatching -OMIM:164920 KIT skos:exactMatch hgnc:KIT semapv:UnspecifiedMatching +OMIM:164920 KIT skos:exactMatch hgnc.symbol:6342 semapv:UnspecifiedMatching +OMIM:164920 KIT skos:exactMatch hgnc.symbol:KIT semapv:UnspecifiedMatching OMIM:164920 KIT skos:exactMatch ncbigene:3815 semapv:UnspecifiedMatching OMIM:164940 FGR skos:exactMatch UMLS:C0919478 semapv:UnspecifiedMatching OMIM:164940 FGR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:164940 FGR skos:exactMatch hgnc:FGR semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch hgnc.symbol:3697 semapv:UnspecifiedMatching +OMIM:164940 FGR skos:exactMatch hgnc.symbol:FGR semapv:UnspecifiedMatching OMIM:164940 FGR skos:exactMatch ncbigene:2268 semapv:UnspecifiedMatching -OMIM:164950 FGF3 skos:exactMatch hgnc:FGF3 semapv:UnspecifiedMatching +OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:3681 semapv:UnspecifiedMatching +OMIM:164950 FGF3 skos:exactMatch hgnc.symbol:FGF3 semapv:UnspecifiedMatching OMIM:164950 FGF3 skos:exactMatch ncbigene:2248 semapv:UnspecifiedMatching -OMIM:164951 NOTCH4 skos:exactMatch hgnc:NOTCH4 semapv:UnspecifiedMatching +OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:7884 semapv:UnspecifiedMatching +OMIM:164951 NOTCH4 skos:exactMatch hgnc.symbol:NOTCH4 semapv:UnspecifiedMatching OMIM:164951 NOTCH4 skos:exactMatch ncbigene:4855 semapv:UnspecifiedMatching OMIM:164953 LPSA skos:exactMatch ncbigene:8177 semapv:UnspecifiedMatching -OMIM:164958 CCN3 skos:exactMatch hgnc:CCN3 semapv:UnspecifiedMatching +OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:7885 semapv:UnspecifiedMatching +OMIM:164958 CCN3 skos:exactMatch hgnc.symbol:CCN3 semapv:UnspecifiedMatching OMIM:164958 CCN3 skos:exactMatch ncbigene:4856 semapv:UnspecifiedMatching -OMIM:164960 PIM1 skos:exactMatch hgnc:PIM1 semapv:UnspecifiedMatching +OMIM:164960 PIM1 skos:exactMatch hgnc.symbol:8986 semapv:UnspecifiedMatching +OMIM:164960 PIM1 skos:exactMatch hgnc.symbol:PIM1 semapv:UnspecifiedMatching OMIM:164960 PIM1 skos:exactMatch ncbigene:5292 semapv:UnspecifiedMatching -OMIM:164975 WNT5A skos:exactMatch hgnc:WNT5A semapv:UnspecifiedMatching +OMIM:164975 WNT5A skos:exactMatch hgnc.symbol:12784 semapv:UnspecifiedMatching +OMIM:164975 WNT5A skos:exactMatch hgnc.symbol:WNT5A semapv:UnspecifiedMatching OMIM:164975 WNT5A skos:exactMatch ncbigene:7474 semapv:UnspecifiedMatching -OMIM:164980 FGF4 skos:exactMatch hgnc:FGF4 semapv:UnspecifiedMatching +OMIM:164980 FGF4 skos:exactMatch hgnc.symbol:3682 semapv:UnspecifiedMatching +OMIM:164980 FGF4 skos:exactMatch hgnc.symbol:FGF4 semapv:UnspecifiedMatching OMIM:164980 FGF4 skos:exactMatch ncbigene:2249 semapv:UnspecifiedMatching -OMIM:165020 ROS1 skos:exactMatch hgnc:ROS1 semapv:UnspecifiedMatching +OMIM:165020 ROS1 skos:exactMatch hgnc.symbol:10261 semapv:UnspecifiedMatching +OMIM:165020 ROS1 skos:exactMatch hgnc.symbol:ROS1 semapv:UnspecifiedMatching OMIM:165020 ROS1 skos:exactMatch ncbigene:6098 semapv:UnspecifiedMatching -OMIM:165040 RAB8A skos:exactMatch hgnc:RAB8A semapv:UnspecifiedMatching +OMIM:165040 RAB8A skos:exactMatch hgnc.symbol:7007 semapv:UnspecifiedMatching +OMIM:165040 RAB8A skos:exactMatch hgnc.symbol:RAB8A semapv:UnspecifiedMatching OMIM:165040 RAB8A skos:exactMatch ncbigene:4218 semapv:UnspecifiedMatching -OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc:TRU-TCA1-1 semapv:UnspecifiedMatching +OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:12348 semapv:UnspecifiedMatching +OMIM:165060 TRU-TCA1-1 skos:exactMatch hgnc.symbol:TRU-TCA1-1 semapv:UnspecifiedMatching OMIM:165060 TRU-TCA1-1 skos:exactMatch ncbigene:7234 semapv:UnspecifiedMatching -OMIM:165070 FLT1 skos:exactMatch hgnc:FLT1 semapv:UnspecifiedMatching +OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:3763 semapv:UnspecifiedMatching +OMIM:165070 FLT1 skos:exactMatch hgnc.symbol:FLT1 semapv:UnspecifiedMatching OMIM:165070 FLT1 skos:exactMatch ncbigene:2321 semapv:UnspecifiedMatching -OMIM:165080 ERG skos:exactMatch hgnc:ERG semapv:UnspecifiedMatching +OMIM:165080 ERG skos:exactMatch hgnc.symbol:3446 semapv:UnspecifiedMatching +OMIM:165080 ERG skos:exactMatch hgnc.symbol:ERG semapv:UnspecifiedMatching OMIM:165080 ERG skos:exactMatch ncbigene:2078 semapv:UnspecifiedMatching -OMIM:165090 RRAS skos:exactMatch hgnc:RRAS semapv:UnspecifiedMatching +OMIM:165090 RRAS skos:exactMatch hgnc.symbol:10447 semapv:UnspecifiedMatching +OMIM:165090 RRAS skos:exactMatch hgnc.symbol:RRAS semapv:UnspecifiedMatching OMIM:165090 RRAS skos:exactMatch ncbigene:6237 semapv:UnspecifiedMatching -OMIM:165095 OSM skos:exactMatch hgnc:OSM semapv:UnspecifiedMatching +OMIM:165095 OSM skos:exactMatch hgnc.symbol:8506 semapv:UnspecifiedMatching +OMIM:165095 OSM skos:exactMatch hgnc.symbol:OSM semapv:UnspecifiedMatching OMIM:165095 OSM skos:exactMatch ncbigene:5008 semapv:UnspecifiedMatching -OMIM:165110 SEA skos:exactMatch hgnc:SEA semapv:UnspecifiedMatching +OMIM:165110 SEA skos:exactMatch hgnc.symbol:SEA semapv:UnspecifiedMatching OMIM:165110 SEA skos:exactMatch ncbigene:6395 semapv:UnspecifiedMatching -OMIM:165120 LYN skos:exactMatch hgnc:LYN semapv:UnspecifiedMatching +OMIM:165120 LYN skos:exactMatch hgnc.symbol:6735 semapv:UnspecifiedMatching +OMIM:165120 LYN skos:exactMatch hgnc.symbol:LYN semapv:UnspecifiedMatching OMIM:165120 LYN skos:exactMatch ncbigene:4067 semapv:UnspecifiedMatching -OMIM:165140 PVT1 skos:exactMatch hgnc:PVT1 semapv:UnspecifiedMatching +OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:9709 semapv:UnspecifiedMatching +OMIM:165140 PVT1 skos:exactMatch hgnc.symbol:PVT1 semapv:UnspecifiedMatching OMIM:165140 PVT1 skos:exactMatch ncbigene:5820 semapv:UnspecifiedMatching -OMIM:165160 JUN skos:exactMatch hgnc:JUN semapv:UnspecifiedMatching +OMIM:165160 JUN skos:exactMatch hgnc.symbol:6204 semapv:UnspecifiedMatching +OMIM:165160 JUN skos:exactMatch hgnc.symbol:JUN semapv:UnspecifiedMatching OMIM:165160 JUN skos:exactMatch ncbigene:3725 semapv:UnspecifiedMatching -OMIM:165161 JUNB skos:exactMatch hgnc:JUNB semapv:UnspecifiedMatching +OMIM:165161 JUNB skos:exactMatch hgnc.symbol:6205 semapv:UnspecifiedMatching +OMIM:165161 JUNB skos:exactMatch hgnc.symbol:JUNB semapv:UnspecifiedMatching OMIM:165161 JUNB skos:exactMatch ncbigene:3726 semapv:UnspecifiedMatching -OMIM:165162 JUND skos:exactMatch hgnc:JUND semapv:UnspecifiedMatching +OMIM:165162 JUND skos:exactMatch hgnc.symbol:6206 semapv:UnspecifiedMatching +OMIM:165162 JUND skos:exactMatch hgnc.symbol:JUND semapv:UnspecifiedMatching OMIM:165162 JUND skos:exactMatch ncbigene:3727 semapv:UnspecifiedMatching -OMIM:165170 SPI1 skos:exactMatch hgnc:SPI1 semapv:UnspecifiedMatching +OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:11241 semapv:UnspecifiedMatching +OMIM:165170 SPI1 skos:exactMatch hgnc.symbol:SPI1 semapv:UnspecifiedMatching OMIM:165170 SPI1 skos:exactMatch ncbigene:6688 semapv:UnspecifiedMatching -OMIM:165180 MAS1 skos:exactMatch hgnc:MAS1 semapv:UnspecifiedMatching +OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:6899 semapv:UnspecifiedMatching +OMIM:165180 MAS1 skos:exactMatch hgnc.symbol:MAS1 semapv:UnspecifiedMatching OMIM:165180 MAS1 skos:exactMatch ncbigene:4142 semapv:UnspecifiedMatching -OMIM:165190 FGF5 skos:exactMatch hgnc:FGF5 semapv:UnspecifiedMatching +OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:3683 semapv:UnspecifiedMatching +OMIM:165190 FGF5 skos:exactMatch hgnc.symbol:FGF5 semapv:UnspecifiedMatching OMIM:165190 FGF5 skos:exactMatch ncbigene:2250 semapv:UnspecifiedMatching -OMIM:165195 OPRD1 skos:exactMatch hgnc:OPRD1 semapv:UnspecifiedMatching +OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:8153 semapv:UnspecifiedMatching +OMIM:165195 OPRD1 skos:exactMatch hgnc.symbol:OPRD1 semapv:UnspecifiedMatching OMIM:165195 OPRD1 skos:exactMatch ncbigene:4985 semapv:UnspecifiedMatching -OMIM:165196 OPRK1 skos:exactMatch hgnc:OPRK1 semapv:UnspecifiedMatching +OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:8154 semapv:UnspecifiedMatching +OMIM:165196 OPRK1 skos:exactMatch hgnc.symbol:OPRK1 semapv:UnspecifiedMatching OMIM:165196 OPRK1 skos:exactMatch ncbigene:4986 semapv:UnspecifiedMatching -OMIM:165215 MECOM skos:exactMatch hgnc:MECOM semapv:UnspecifiedMatching +OMIM:165215 MECOM skos:exactMatch hgnc.symbol:3498 semapv:UnspecifiedMatching +OMIM:165215 MECOM skos:exactMatch hgnc.symbol:MECOM semapv:UnspecifiedMatching OMIM:165215 MECOM skos:exactMatch ncbigene:2122 semapv:UnspecifiedMatching -OMIM:165220 GLI1 skos:exactMatch hgnc:GLI1 semapv:UnspecifiedMatching +OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:4317 semapv:UnspecifiedMatching +OMIM:165220 GLI1 skos:exactMatch hgnc.symbol:GLI1 semapv:UnspecifiedMatching OMIM:165220 GLI1 skos:exactMatch ncbigene:2735 semapv:UnspecifiedMatching -OMIM:165230 GLI2 skos:exactMatch hgnc:GLI2 semapv:UnspecifiedMatching +OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:4318 semapv:UnspecifiedMatching +OMIM:165230 GLI2 skos:exactMatch hgnc.symbol:GLI2 semapv:UnspecifiedMatching OMIM:165230 GLI2 skos:exactMatch ncbigene:2736 semapv:UnspecifiedMatching -OMIM:165240 GLI3 skos:exactMatch hgnc:GLI3 semapv:UnspecifiedMatching +OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:4319 semapv:UnspecifiedMatching +OMIM:165240 GLI3 skos:exactMatch hgnc.symbol:GLI3 semapv:UnspecifiedMatching OMIM:165240 GLI3 skos:exactMatch ncbigene:2737 semapv:UnspecifiedMatching -OMIM:165250 ZNF875 skos:exactMatch hgnc:ZNF875 semapv:UnspecifiedMatching +OMIM:165250 ZNF875 skos:exactMatch hgnc.symbol:4928 semapv:UnspecifiedMatching +OMIM:165250 ZNF875 skos:exactMatch hgnc.symbol:ZNF875 semapv:UnspecifiedMatching OMIM:165250 ZNF875 skos:exactMatch ncbigene:284459 semapv:UnspecifiedMatching -OMIM:165260 ZSCAN22 skos:exactMatch hgnc:ZSCAN22 semapv:UnspecifiedMatching +OMIM:165260 ZSCAN22 skos:exactMatch hgnc.symbol:4929 semapv:UnspecifiedMatching +OMIM:165260 ZSCAN22 skos:exactMatch hgnc.symbol:ZSCAN22 semapv:UnspecifiedMatching OMIM:165260 ZSCAN22 skos:exactMatch ncbigene:342945 semapv:UnspecifiedMatching -OMIM:165270 ZBTB48 skos:exactMatch hgnc:ZBTB48 semapv:UnspecifiedMatching +OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:4930 semapv:UnspecifiedMatching +OMIM:165270 ZBTB48 skos:exactMatch hgnc.symbol:ZBTB48 semapv:UnspecifiedMatching OMIM:165270 ZBTB48 skos:exactMatch ncbigene:3104 semapv:UnspecifiedMatching -OMIM:165280 GLI4 skos:exactMatch hgnc:GLI4 semapv:UnspecifiedMatching +OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:4320 semapv:UnspecifiedMatching +OMIM:165280 GLI4 skos:exactMatch hgnc.symbol:GLI4 semapv:UnspecifiedMatching OMIM:165280 GLI4 skos:exactMatch ncbigene:2738 semapv:UnspecifiedMatching +OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch Orphanet:67036 semapv:UnspecifiedMatching OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching -OMIM:165300 optic atrophy 3, autosomal dominant skos:exactMatch orphanet.ordo:67036 semapv:UnspecifiedMatching -OMIM:165330 WNT3 skos:exactMatch hgnc:WNT3 semapv:UnspecifiedMatching +OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:12782 semapv:UnspecifiedMatching +OMIM:165330 WNT3 skos:exactMatch hgnc.symbol:WNT3 semapv:UnspecifiedMatching OMIM:165330 WNT3 skos:exactMatch ncbigene:7473 semapv:UnspecifiedMatching -OMIM:165340 SKIL skos:exactMatch hgnc:SKIL semapv:UnspecifiedMatching +OMIM:165340 SKIL skos:exactMatch hgnc.symbol:10897 semapv:UnspecifiedMatching +OMIM:165340 SKIL skos:exactMatch hgnc.symbol:SKIL semapv:UnspecifiedMatching OMIM:165340 SKIL skos:exactMatch ncbigene:6498 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C0349639 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C0812242 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C4016300 semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch UMLS:C4016301 semapv:UnspecifiedMatching -OMIM:165360 CBL skos:exactMatch hgnc:CBL semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch hgnc.symbol:1541 semapv:UnspecifiedMatching +OMIM:165360 CBL skos:exactMatch hgnc.symbol:CBL semapv:UnspecifiedMatching OMIM:165360 CBL skos:exactMatch ncbigene:867 semapv:UnspecifiedMatching -OMIM:165370 RHOB skos:exactMatch hgnc:RHOB semapv:UnspecifiedMatching +OMIM:165370 RHOB skos:exactMatch hgnc.symbol:668 semapv:UnspecifiedMatching +OMIM:165370 RHOB skos:exactMatch hgnc.symbol:RHOB semapv:UnspecifiedMatching OMIM:165370 RHOB skos:exactMatch ncbigene:388 semapv:UnspecifiedMatching -OMIM:165380 RHOC skos:exactMatch hgnc:RHOC semapv:UnspecifiedMatching +OMIM:165380 RHOC skos:exactMatch hgnc.symbol:669 semapv:UnspecifiedMatching +OMIM:165380 RHOC skos:exactMatch hgnc.symbol:RHOC semapv:UnspecifiedMatching OMIM:165380 RHOC skos:exactMatch ncbigene:389 semapv:UnspecifiedMatching OMIM:165390 RHOA skos:exactMatch UMLS:C0812234 semapv:UnspecifiedMatching OMIM:165390 RHOA skos:exactMatch UMLS:C5231517 semapv:UnspecifiedMatching -OMIM:165390 RHOA skos:exactMatch hgnc:RHOA semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch hgnc.symbol:667 semapv:UnspecifiedMatching +OMIM:165390 RHOA skos:exactMatch hgnc.symbol:RHOA semapv:UnspecifiedMatching OMIM:165390 RHOA skos:exactMatch ncbigene:387 semapv:UnspecifiedMatching +OMIM:165500 optic atrophy 1 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching OMIM:165500 optic atrophy 1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching -OMIM:165500 optic atrophy 1 skos:exactMatch orphanet.ordo:98673 semapv:UnspecifiedMatching OMIM:165510 optic atrophy 13 with retinal and foveal abnormalities skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch UMLS:C1417932 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch UMLS:C1417933 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch UMLS:C5436942 semapv:UnspecifiedMatching -OMIM:165640 ODC1 skos:exactMatch hgnc:ODC1 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:8109 semapv:UnspecifiedMatching +OMIM:165640 ODC1 skos:exactMatch hgnc.symbol:ODC1 semapv:UnspecifiedMatching OMIM:165640 ODC1 skos:exactMatch ncbigene:4953 semapv:UnspecifiedMatching +OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:251262 semapv:UnspecifiedMatching +OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:435804 semapv:UnspecifiedMatching OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch UMLS:C3665488 semapv:UnspecifiedMatching -OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch orphanet.ordo:251262 semapv:UnspecifiedMatching -OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch orphanet.ordo:435804 semapv:UnspecifiedMatching +OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch Orphanet:2774 semapv:UnspecifiedMatching OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching -OMIM:166300 multicentric carpotarsal osteolysis syndrome skos:exactMatch orphanet.ordo:2774 semapv:UnspecifiedMatching -OMIM:166490 SPP1 skos:exactMatch hgnc:SPP1 semapv:UnspecifiedMatching +OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:11255 semapv:UnspecifiedMatching +OMIM:166490 SPP1 skos:exactMatch hgnc.symbol:SPP1 semapv:UnspecifiedMatching OMIM:166490 SPP1 skos:exactMatch ncbigene:6696 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:1306 semapv:UnspecifiedMatching +OMIM:166700 buschke-ollendorff syndrome skos:exactMatch Orphanet:166119 semapv:UnspecifiedMatching OMIM:166700 buschke-ollendorff syndrome skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching -OMIM:166700 buschke-ollendorff syndrome skos:exactMatch orphanet.ordo:1306 semapv:UnspecifiedMatching -OMIM:166700 buschke-ollendorff syndrome skos:exactMatch orphanet.ordo:166119 semapv:UnspecifiedMatching +OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch UMLS:C3714941 semapv:UnspecifiedMatching -OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch orphanet.ordo:2792 semapv:UnspecifiedMatching -OMIM:166945 NBR1 skos:exactMatch hgnc:NBR1 semapv:UnspecifiedMatching +OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:6746 semapv:UnspecifiedMatching +OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:NBR1 semapv:UnspecifiedMatching OMIM:166945 NBR1 skos:exactMatch ncbigene:4077 semapv:UnspecifiedMatching -OMIM:167040 OSBP skos:exactMatch hgnc:OSBP semapv:UnspecifiedMatching +OMIM:167040 OSBP skos:exactMatch hgnc.symbol:8503 semapv:UnspecifiedMatching +OMIM:167040 OSBP skos:exactMatch hgnc.symbol:OSBP semapv:UnspecifiedMatching OMIM:167040 OSBP skos:exactMatch ncbigene:5007 semapv:UnspecifiedMatching -OMIM:167050 OXT skos:exactMatch hgnc:OXT semapv:UnspecifiedMatching +OMIM:167050 OXT skos:exactMatch hgnc.symbol:8528 semapv:UnspecifiedMatching +OMIM:167050 OXT skos:exactMatch hgnc.symbol:OXT semapv:UnspecifiedMatching OMIM:167050 OXT skos:exactMatch ncbigene:5020 semapv:UnspecifiedMatching -OMIM:167055 OXTR skos:exactMatch hgnc:OXTR semapv:UnspecifiedMatching +OMIM:167055 OXTR skos:exactMatch hgnc.symbol:8529 semapv:UnspecifiedMatching +OMIM:167055 OXTR skos:exactMatch hgnc.symbol:OXTR semapv:UnspecifiedMatching OMIM:167055 OXTR skos:exactMatch ncbigene:5021 semapv:UnspecifiedMatching +OMIM:167200 pachyonychia congenita 1 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching OMIM:167200 pachyonychia congenita 1 skos:exactMatch UMLS:C1706595 semapv:UnspecifiedMatching -OMIM:167200 pachyonychia congenita 1 skos:exactMatch orphanet.ordo:2309 semapv:UnspecifiedMatching +OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch Orphanet:52430 semapv:UnspecifiedMatching OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C1833662 semapv:UnspecifiedMatching OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch UMLS:C4551951 semapv:UnspecifiedMatching -OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 skos:exactMatch orphanet.ordo:52430 semapv:UnspecifiedMatching -OMIM:167405 PCSK6 skos:exactMatch hgnc:PCSK6 semapv:UnspecifiedMatching +OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:8569 semapv:UnspecifiedMatching +OMIM:167405 PCSK6 skos:exactMatch hgnc.symbol:PCSK6 semapv:UnspecifiedMatching OMIM:167405 PCSK6 skos:exactMatch ncbigene:5046 semapv:UnspecifiedMatching -OMIM:167409 PAX2 skos:exactMatch hgnc:PAX2 semapv:UnspecifiedMatching +OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:8616 semapv:UnspecifiedMatching +OMIM:167409 PAX2 skos:exactMatch hgnc.symbol:PAX2 semapv:UnspecifiedMatching OMIM:167409 PAX2 skos:exactMatch ncbigene:5076 semapv:UnspecifiedMatching -OMIM:167410 PAX7 skos:exactMatch hgnc:PAX7 semapv:UnspecifiedMatching +OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:8621 semapv:UnspecifiedMatching +OMIM:167410 PAX7 skos:exactMatch hgnc.symbol:PAX7 semapv:UnspecifiedMatching OMIM:167410 PAX7 skos:exactMatch ncbigene:5081 semapv:UnspecifiedMatching -OMIM:167411 PAX1 skos:exactMatch hgnc:PAX1 semapv:UnspecifiedMatching +OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:8615 semapv:UnspecifiedMatching +OMIM:167411 PAX1 skos:exactMatch hgnc.symbol:PAX1 semapv:UnspecifiedMatching OMIM:167411 PAX1 skos:exactMatch ncbigene:5075 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C1418275 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C2677132 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch UMLS:C4016306 semapv:UnspecifiedMatching -OMIM:167413 PAX4 skos:exactMatch hgnc:PAX4 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:8618 semapv:UnspecifiedMatching +OMIM:167413 PAX4 skos:exactMatch hgnc.symbol:PAX4 semapv:UnspecifiedMatching OMIM:167413 PAX4 skos:exactMatch ncbigene:5078 semapv:UnspecifiedMatching OMIM:167414 PAX5 skos:exactMatch UMLS:C1335193 semapv:UnspecifiedMatching OMIM:167414 PAX5 skos:exactMatch UMLS:C2751104 semapv:UnspecifiedMatching OMIM:167414 PAX5 skos:exactMatch UMLS:C3809874 semapv:UnspecifiedMatching -OMIM:167414 PAX5 skos:exactMatch hgnc:PAX5 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:8619 semapv:UnspecifiedMatching +OMIM:167414 PAX5 skos:exactMatch hgnc.symbol:PAX5 semapv:UnspecifiedMatching OMIM:167414 PAX5 skos:exactMatch ncbigene:5079 semapv:UnspecifiedMatching -OMIM:167415 PAX8 skos:exactMatch hgnc:PAX8 semapv:UnspecifiedMatching +OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:8622 semapv:UnspecifiedMatching +OMIM:167415 PAX8 skos:exactMatch hgnc.symbol:PAX8 semapv:UnspecifiedMatching OMIM:167415 PAX8 skos:exactMatch ncbigene:7849 semapv:UnspecifiedMatching OMIM:167416 PAX9 skos:exactMatch UMLS:C1418278 semapv:UnspecifiedMatching OMIM:167416 PAX9 skos:exactMatch UMLS:C1970291 semapv:UnspecifiedMatching -OMIM:167416 PAX9 skos:exactMatch hgnc:PAX9 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:8623 semapv:UnspecifiedMatching +OMIM:167416 PAX9 skos:exactMatch hgnc.symbol:PAX9 semapv:UnspecifiedMatching OMIM:167416 PAX9 skos:exactMatch ncbigene:5083 semapv:UnspecifiedMatching -OMIM:167420 PRRX1 skos:exactMatch hgnc:PRRX1 semapv:UnspecifiedMatching +OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:9142 semapv:UnspecifiedMatching +OMIM:167420 PRRX1 skos:exactMatch hgnc.symbol:PRRX1 semapv:UnspecifiedMatching OMIM:167420 PRRX1 skos:exactMatch ncbigene:5396 semapv:UnspecifiedMatching -OMIM:167770 REG1A skos:exactMatch hgnc:REG1A semapv:UnspecifiedMatching +OMIM:167770 REG1A skos:exactMatch hgnc.symbol:9951 semapv:UnspecifiedMatching +OMIM:167770 REG1A skos:exactMatch hgnc.symbol:REG1A semapv:UnspecifiedMatching OMIM:167770 REG1A skos:exactMatch ncbigene:5967 semapv:UnspecifiedMatching -OMIM:167771 REG1B skos:exactMatch hgnc:REG1B semapv:UnspecifiedMatching +OMIM:167771 REG1B skos:exactMatch hgnc.symbol:9952 semapv:UnspecifiedMatching +OMIM:167771 REG1B skos:exactMatch hgnc.symbol:REG1B semapv:UnspecifiedMatching OMIM:167771 REG1B skos:exactMatch ncbigene:5968 semapv:UnspecifiedMatching -OMIM:167780 PPY skos:exactMatch hgnc:PPY semapv:UnspecifiedMatching +OMIM:167780 PPY skos:exactMatch hgnc.symbol:9327 semapv:UnspecifiedMatching +OMIM:167780 PPY skos:exactMatch hgnc.symbol:PPY semapv:UnspecifiedMatching OMIM:167780 PPY skos:exactMatch ncbigene:5539 semapv:UnspecifiedMatching -OMIM:167790 SPINK1 skos:exactMatch hgnc:SPINK1 semapv:UnspecifiedMatching +OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:11244 semapv:UnspecifiedMatching +OMIM:167790 SPINK1 skos:exactMatch hgnc.symbol:SPINK1 semapv:UnspecifiedMatching OMIM:167790 SPINK1 skos:exactMatch ncbigene:6690 semapv:UnspecifiedMatching +OMIM:167800 pancreatitis, hereditary skos:exactMatch Orphanet:676 semapv:UnspecifiedMatching OMIM:167800 pancreatitis, hereditary skos:exactMatch UMLS:C0238339 semapv:UnspecifiedMatching -OMIM:167800 pancreatitis, hereditary skos:exactMatch orphanet.ordo:676 semapv:UnspecifiedMatching -OMIM:167805 REG3A skos:exactMatch hgnc:REG3A semapv:UnspecifiedMatching +OMIM:167805 REG3A skos:exactMatch hgnc.symbol:8601 semapv:UnspecifiedMatching +OMIM:167805 REG3A skos:exactMatch hgnc.symbol:REG3A semapv:UnspecifiedMatching OMIM:167805 REG3A skos:exactMatch ncbigene:5068 semapv:UnspecifiedMatching -OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc:HPV18I1 semapv:UnspecifiedMatching -OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc:HPV18I2 semapv:UnspecifiedMatching +OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:5166 semapv:UnspecifiedMatching +OMIM:167959 human papillomavirus iia 18 integration site 1 skos:exactMatch hgnc.symbol:HPV18I1 semapv:UnspecifiedMatching +OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:5167 semapv:UnspecifiedMatching +OMIM:167960 human papillomavirus iia 18 integration site 2 skos:exactMatch hgnc.symbol:HPV18I2 semapv:UnspecifiedMatching OMIM:168360 ELAVL4 skos:exactMatch UMLS:C1414374 semapv:UnspecifiedMatching -OMIM:168360 ELAVL4 skos:exactMatch hgnc:ELAVL4 semapv:UnspecifiedMatching +OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:3315 semapv:UnspecifiedMatching +OMIM:168360 ELAVL4 skos:exactMatch hgnc.symbol:ELAVL4 semapv:UnspecifiedMatching OMIM:168360 ELAVL4 skos:exactMatch ncbigene:1996 semapv:UnspecifiedMatching -OMIM:168440 PTMS skos:exactMatch hgnc:PTMS semapv:UnspecifiedMatching +OMIM:168440 PTMS skos:exactMatch hgnc.symbol:9629 semapv:UnspecifiedMatching +OMIM:168440 PTMS skos:exactMatch hgnc.symbol:PTMS semapv:UnspecifiedMatching OMIM:168440 PTMS skos:exactMatch ncbigene:5763 semapv:UnspecifiedMatching OMIM:168450 PTH skos:exactMatch UMLS:C0221002 semapv:UnspecifiedMatching OMIM:168450 PTH skos:exactMatch UMLS:C1419072 semapv:UnspecifiedMatching OMIM:168450 PTH skos:exactMatch UMLS:C5241444 semapv:UnspecifiedMatching -OMIM:168450 PTH skos:exactMatch hgnc:PTH semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch hgnc.symbol:9606 semapv:UnspecifiedMatching +OMIM:168450 PTH skos:exactMatch hgnc.symbol:PTH semapv:UnspecifiedMatching OMIM:168450 PTH skos:exactMatch ncbigene:5741 semapv:UnspecifiedMatching -OMIM:168461 CCND1 skos:exactMatch hgnc:CCND1 semapv:UnspecifiedMatching +OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:1582 semapv:UnspecifiedMatching +OMIM:168461 CCND1 skos:exactMatch hgnc.symbol:CCND1 semapv:UnspecifiedMatching OMIM:168461 CCND1 skos:exactMatch ncbigene:595 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C0265295 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C1419073 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C1852222 semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch UMLS:C1859148 semapv:UnspecifiedMatching -OMIM:168468 PTH1R skos:exactMatch hgnc:PTH1R semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:9608 semapv:UnspecifiedMatching +OMIM:168468 PTH1R skos:exactMatch hgnc.symbol:PTH1R semapv:UnspecifiedMatching OMIM:168468 PTH1R skos:exactMatch ncbigene:5745 semapv:UnspecifiedMatching -OMIM:168470 PTHLH skos:exactMatch hgnc:PTHLH semapv:UnspecifiedMatching +OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:9607 semapv:UnspecifiedMatching +OMIM:168470 PTHLH skos:exactMatch hgnc.symbol:PTHLH semapv:UnspecifiedMatching OMIM:168470 PTHLH skos:exactMatch ncbigene:5744 semapv:UnspecifiedMatching OMIM:168600 parkinson disease, late-onset skos:exactMatch UMLS:C3160718 semapv:UnspecifiedMatching +OMIM:168605 perry syndrome skos:exactMatch Orphanet:178509 semapv:UnspecifiedMatching OMIM:168605 perry syndrome skos:exactMatch UMLS:C1868594 semapv:UnspecifiedMatching -OMIM:168605 perry syndrome skos:exactMatch orphanet.ordo:178509 semapv:UnspecifiedMatching -OMIM:168730 PRH1 skos:exactMatch hgnc:PRH1 semapv:UnspecifiedMatching +OMIM:168730 PRH1 skos:exactMatch hgnc.symbol:9366 semapv:UnspecifiedMatching +OMIM:168730 PRH1 skos:exactMatch hgnc.symbol:PRH1 semapv:UnspecifiedMatching OMIM:168730 PRH1 skos:exactMatch ncbigene:5554 semapv:UnspecifiedMatching -OMIM:168790 PRH2 skos:exactMatch hgnc:PRH2 semapv:UnspecifiedMatching +OMIM:168790 PRH2 skos:exactMatch hgnc.symbol:9367 semapv:UnspecifiedMatching +OMIM:168790 PRH2 skos:exactMatch hgnc.symbol:PRH2 semapv:UnspecifiedMatching OMIM:168790 PRH2 skos:exactMatch ncbigene:5555 semapv:UnspecifiedMatching -OMIM:168810 PRB2 skos:exactMatch hgnc:PRB2 semapv:UnspecifiedMatching +OMIM:168810 PRB2 skos:exactMatch hgnc.symbol:9338 semapv:UnspecifiedMatching +OMIM:168810 PRB2 skos:exactMatch hgnc.symbol:PRB2 semapv:UnspecifiedMatching OMIM:168810 PRB2 skos:exactMatch ncbigene:653247 semapv:UnspecifiedMatching -OMIM:168820 PON1 skos:exactMatch hgnc:PON1 semapv:UnspecifiedMatching +OMIM:168820 PON1 skos:exactMatch hgnc.symbol:9204 semapv:UnspecifiedMatching +OMIM:168820 PON1 skos:exactMatch hgnc.symbol:PON1 semapv:UnspecifiedMatching OMIM:168820 PON1 skos:exactMatch ncbigene:5444 semapv:UnspecifiedMatching -OMIM:168840 PRB3 skos:exactMatch hgnc:PRB3 semapv:UnspecifiedMatching +OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:9339 semapv:UnspecifiedMatching +OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:PRB3 semapv:UnspecifiedMatching OMIM:168840 PRB3 skos:exactMatch ncbigene:5544 semapv:UnspecifiedMatching -OMIM:168890 PVALB skos:exactMatch hgnc:PVALB semapv:UnspecifiedMatching +OMIM:168890 PVALB skos:exactMatch hgnc.symbol:9704 semapv:UnspecifiedMatching +OMIM:168890 PVALB skos:exactMatch hgnc.symbol:PVALB semapv:UnspecifiedMatching OMIM:168890 PVALB skos:exactMatch ncbigene:5816 semapv:UnspecifiedMatching -OMIM:169190 CDK18 skos:exactMatch hgnc:CDK18 semapv:UnspecifiedMatching +OMIM:169190 CDK18 skos:exactMatch hgnc.symbol:8751 semapv:UnspecifiedMatching +OMIM:169190 CDK18 skos:exactMatch hgnc.symbol:CDK18 semapv:UnspecifiedMatching OMIM:169190 CDK18 skos:exactMatch ncbigene:5129 semapv:UnspecifiedMatching -OMIM:169615 DSG3 skos:exactMatch hgnc:DSG3 semapv:UnspecifiedMatching +OMIM:169615 DSG3 skos:exactMatch hgnc.symbol:3050 semapv:UnspecifiedMatching +OMIM:169615 DSG3 skos:exactMatch hgnc.symbol:DSG3 semapv:UnspecifiedMatching OMIM:169615 DSG3 skos:exactMatch ncbigene:1830 semapv:UnspecifiedMatching -OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc:PGA3 semapv:UnspecifiedMatching -OMIM:169720 PGA4 skos:exactMatch hgnc:PGA4 semapv:UnspecifiedMatching +OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc.symbol:8885 semapv:UnspecifiedMatching +OMIM:169710 pepsinogen 3, group 1 skos:exactMatch hgnc.symbol:PGA3 semapv:UnspecifiedMatching +OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:8886 semapv:UnspecifiedMatching +OMIM:169720 PGA4 skos:exactMatch hgnc.symbol:PGA4 semapv:UnspecifiedMatching OMIM:169720 PGA4 skos:exactMatch ncbigene:643847 semapv:UnspecifiedMatching -OMIM:169730 PGA5 skos:exactMatch hgnc:PGA5 semapv:UnspecifiedMatching +OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:8887 semapv:UnspecifiedMatching +OMIM:169730 PGA5 skos:exactMatch hgnc.symbol:PGA5 semapv:UnspecifiedMatching OMIM:169730 PGA5 skos:exactMatch ncbigene:5222 semapv:UnspecifiedMatching -OMIM:169740 PGC skos:exactMatch hgnc:PGC semapv:UnspecifiedMatching +OMIM:169740 PGC skos:exactMatch hgnc.symbol:8890 semapv:UnspecifiedMatching +OMIM:169740 PGC skos:exactMatch hgnc.symbol:PGC semapv:UnspecifiedMatching OMIM:169740 PGC skos:exactMatch ncbigene:5225 semapv:UnspecifiedMatching -OMIM:169800 CNDP2 skos:exactMatch hgnc:CNDP2 semapv:UnspecifiedMatching +OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:24437 semapv:UnspecifiedMatching +OMIM:169800 CNDP2 skos:exactMatch hgnc.symbol:CNDP2 semapv:UnspecifiedMatching OMIM:169800 CNDP2 skos:exactMatch ncbigene:55748 semapv:UnspecifiedMatching -OMIM:169900 PEPB skos:exactMatch hgnc:PEPB semapv:UnspecifiedMatching +OMIM:169900 PEPB skos:exactMatch hgnc.symbol:8838 semapv:UnspecifiedMatching +OMIM:169900 PEPB skos:exactMatch hgnc.symbol:PEPB semapv:UnspecifiedMatching OMIM:169900 PEPB skos:exactMatch ncbigene:5182 semapv:UnspecifiedMatching -OMIM:170000 PEPC skos:exactMatch hgnc:PEPC semapv:UnspecifiedMatching +OMIM:170000 PEPC skos:exactMatch hgnc.symbol:8839 semapv:UnspecifiedMatching +OMIM:170000 PEPC skos:exactMatch hgnc.symbol:PEPC semapv:UnspecifiedMatching OMIM:170000 PEPC skos:exactMatch ncbigene:5183 semapv:UnspecifiedMatching -OMIM:170200 PEPE skos:exactMatch hgnc:PEPE semapv:UnspecifiedMatching +OMIM:170200 PEPE skos:exactMatch hgnc.symbol:8841 semapv:UnspecifiedMatching +OMIM:170200 PEPE skos:exactMatch hgnc.symbol:PEPE semapv:UnspecifiedMatching OMIM:170200 PEPE skos:exactMatch ncbigene:5185 semapv:UnspecifiedMatching -OMIM:170250 LAP3 skos:exactMatch hgnc:LAP3 semapv:UnspecifiedMatching +OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:18449 semapv:UnspecifiedMatching +OMIM:170250 LAP3 skos:exactMatch hgnc.symbol:LAP3 semapv:UnspecifiedMatching OMIM:170250 LAP3 skos:exactMatch ncbigene:51056 semapv:UnspecifiedMatching -OMIM:170260 TAP1 skos:exactMatch hgnc:TAP1 semapv:UnspecifiedMatching +OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:43 semapv:UnspecifiedMatching +OMIM:170260 TAP1 skos:exactMatch hgnc.symbol:TAP1 semapv:UnspecifiedMatching OMIM:170260 TAP1 skos:exactMatch ncbigene:6890 semapv:UnspecifiedMatching -OMIM:170261 TAP2 skos:exactMatch hgnc:TAP2 semapv:UnspecifiedMatching +OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:44 semapv:UnspecifiedMatching +OMIM:170261 TAP2 skos:exactMatch hgnc.symbol:TAP2 semapv:UnspecifiedMatching OMIM:170261 TAP2 skos:exactMatch ncbigene:6891 semapv:UnspecifiedMatching -OMIM:170270 PAM skos:exactMatch hgnc:PAM semapv:UnspecifiedMatching +OMIM:170270 PAM skos:exactMatch hgnc.symbol:8596 semapv:UnspecifiedMatching +OMIM:170270 PAM skos:exactMatch hgnc.symbol:PAM semapv:UnspecifiedMatching OMIM:170270 PAM skos:exactMatch ncbigene:5066 semapv:UnspecifiedMatching -OMIM:170280 PRF1 skos:exactMatch hgnc:PRF1 semapv:UnspecifiedMatching +OMIM:170280 PRF1 skos:exactMatch hgnc.symbol:9360 semapv:UnspecifiedMatching +OMIM:170280 PRF1 skos:exactMatch hgnc.symbol:PRF1 semapv:UnspecifiedMatching OMIM:170280 PRF1 skos:exactMatch ncbigene:5551 semapv:UnspecifiedMatching -OMIM:170285 NUP85 skos:exactMatch hgnc:NUP85 semapv:UnspecifiedMatching +OMIM:170285 NUP85 skos:exactMatch hgnc.symbol:8734 semapv:UnspecifiedMatching +OMIM:170285 NUP85 skos:exactMatch hgnc.symbol:NUP85 semapv:UnspecifiedMatching OMIM:170285 NUP85 skos:exactMatch ncbigene:79902 semapv:UnspecifiedMatching -OMIM:170290 PLIN1 skos:exactMatch hgnc:PLIN1 semapv:UnspecifiedMatching +OMIM:170290 PLIN1 skos:exactMatch hgnc.symbol:9076 semapv:UnspecifiedMatching +OMIM:170290 PLIN1 skos:exactMatch hgnc.symbol:PLIN1 semapv:UnspecifiedMatching OMIM:170290 PLIN1 skos:exactMatch ncbigene:5346 semapv:UnspecifiedMatching -OMIM:170710 PRPH skos:exactMatch hgnc:PRPH semapv:UnspecifiedMatching +OMIM:170710 PRPH skos:exactMatch hgnc.symbol:9461 semapv:UnspecifiedMatching +OMIM:170710 PRPH skos:exactMatch hgnc.symbol:PRPH semapv:UnspecifiedMatching OMIM:170710 PRPH skos:exactMatch ncbigene:5630 semapv:UnspecifiedMatching -OMIM:170715 PMP2 skos:exactMatch hgnc:PMP2 semapv:UnspecifiedMatching +OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:9117 semapv:UnspecifiedMatching +OMIM:170715 PMP2 skos:exactMatch hgnc.symbol:PMP2 semapv:UnspecifiedMatching OMIM:170715 PMP2 skos:exactMatch ncbigene:5375 semapv:UnspecifiedMatching -OMIM:170993 PEX2 skos:exactMatch hgnc:PEX2 semapv:UnspecifiedMatching +OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:9717 semapv:UnspecifiedMatching +OMIM:170993 PEX2 skos:exactMatch hgnc.symbol:PEX2 semapv:UnspecifiedMatching OMIM:170993 PEX2 skos:exactMatch ncbigene:5828 semapv:UnspecifiedMatching -OMIM:170995 ABCD3 skos:exactMatch hgnc:ABCD3 semapv:UnspecifiedMatching +OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:67 semapv:UnspecifiedMatching +OMIM:170995 ABCD3 skos:exactMatch hgnc.symbol:ABCD3 semapv:UnspecifiedMatching OMIM:170995 ABCD3 skos:exactMatch ncbigene:5825 semapv:UnspecifiedMatching -OMIM:170998 PPARA skos:exactMatch hgnc:PPARA semapv:UnspecifiedMatching +OMIM:170998 PPARA skos:exactMatch hgnc.symbol:9232 semapv:UnspecifiedMatching +OMIM:170998 PPARA skos:exactMatch hgnc.symbol:PPARA semapv:UnspecifiedMatching OMIM:170998 PPARA skos:exactMatch ncbigene:5465 semapv:UnspecifiedMatching OMIM:171050 ABCB1 skos:exactMatch UMLS:C0376622 semapv:UnspecifiedMatching OMIM:171050 ABCB1 skos:exactMatch UMLS:C1861502 semapv:UnspecifiedMatching OMIM:171050 ABCB1 skos:exactMatch UMLS:C4016315 semapv:UnspecifiedMatching OMIM:171050 ABCB1 skos:exactMatch UMLS:C4016316 semapv:UnspecifiedMatching -OMIM:171050 ABCB1 skos:exactMatch hgnc:ABCB1 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch hgnc.symbol:40 semapv:UnspecifiedMatching +OMIM:171050 ABCB1 skos:exactMatch hgnc.symbol:ABCB1 semapv:UnspecifiedMatching OMIM:171050 ABCB1 skos:exactMatch ncbigene:5243 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C1412071 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C1865643 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C2609268 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch UMLS:C3550019 semapv:UnspecifiedMatching -OMIM:171060 ABCB4 skos:exactMatch hgnc:ABCB4 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:45 semapv:UnspecifiedMatching +OMIM:171060 ABCB4 skos:exactMatch hgnc.symbol:ABCB4 semapv:UnspecifiedMatching OMIM:171060 ABCB4 skos:exactMatch ncbigene:5244 semapv:UnspecifiedMatching -OMIM:171150 SULT1A1 skos:exactMatch hgnc:SULT1A1 semapv:UnspecifiedMatching +OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:11453 semapv:UnspecifiedMatching +OMIM:171150 SULT1A1 skos:exactMatch hgnc.symbol:SULT1A1 semapv:UnspecifiedMatching OMIM:171150 SULT1A1 skos:exactMatch ncbigene:6817 semapv:UnspecifiedMatching -OMIM:171190 PNMT skos:exactMatch hgnc:PNMT semapv:UnspecifiedMatching +OMIM:171190 PNMT skos:exactMatch hgnc.symbol:9160 semapv:UnspecifiedMatching +OMIM:171190 PNMT skos:exactMatch hgnc.symbol:PNMT semapv:UnspecifiedMatching OMIM:171190 PNMT skos:exactMatch ncbigene:5409 semapv:UnspecifiedMatching +OMIM:171300 pheochromocytoma skos:exactMatch Orphanet:29072 semapv:UnspecifiedMatching OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching OMIM:171300 pheochromocytoma skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching -OMIM:171300 pheochromocytoma skos:exactMatch orphanet.ordo:29072 semapv:UnspecifiedMatching -OMIM:171490 PDC skos:exactMatch hgnc:PDC semapv:UnspecifiedMatching +OMIM:171490 PDC skos:exactMatch hgnc.symbol:8759 semapv:UnspecifiedMatching +OMIM:171490 PDC skos:exactMatch hgnc.symbol:PDC semapv:UnspecifiedMatching OMIM:171490 PDC skos:exactMatch ncbigene:5132 semapv:UnspecifiedMatching OMIM:171500 ACP1 skos:exactMatch UMLS:C1412131 semapv:UnspecifiedMatching OMIM:171500 ACP1 skos:exactMatch UMLS:C4016317 semapv:UnspecifiedMatching -OMIM:171500 ACP1 skos:exactMatch hgnc:ACP1 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:122 semapv:UnspecifiedMatching +OMIM:171500 ACP1 skos:exactMatch hgnc.symbol:ACP1 semapv:UnspecifiedMatching OMIM:171500 ACP1 skos:exactMatch ncbigene:52 semapv:UnspecifiedMatching -OMIM:171640 ACP5 skos:exactMatch hgnc:ACP5 semapv:UnspecifiedMatching +OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:124 semapv:UnspecifiedMatching +OMIM:171640 ACP5 skos:exactMatch hgnc.symbol:ACP5 semapv:UnspecifiedMatching OMIM:171640 ACP5 skos:exactMatch ncbigene:54 semapv:UnspecifiedMatching -OMIM:171650 ACP2 skos:exactMatch hgnc:ACP2 semapv:UnspecifiedMatching +OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:123 semapv:UnspecifiedMatching +OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:ACP2 semapv:UnspecifiedMatching OMIM:171650 ACP2 skos:exactMatch ncbigene:53 semapv:UnspecifiedMatching -OMIM:171740 ALPI skos:exactMatch hgnc:ALPI semapv:UnspecifiedMatching +OMIM:171740 ALPI skos:exactMatch hgnc.symbol:437 semapv:UnspecifiedMatching +OMIM:171740 ALPI skos:exactMatch hgnc.symbol:ALPI semapv:UnspecifiedMatching OMIM:171740 ALPI skos:exactMatch ncbigene:248 semapv:UnspecifiedMatching -OMIM:171760 ALPL skos:exactMatch hgnc:ALPL semapv:UnspecifiedMatching +OMIM:171760 ALPL skos:exactMatch hgnc.symbol:438 semapv:UnspecifiedMatching +OMIM:171760 ALPL skos:exactMatch hgnc.symbol:ALPL semapv:UnspecifiedMatching OMIM:171760 ALPL skos:exactMatch ncbigene:249 semapv:UnspecifiedMatching -OMIM:171790 ACPP skos:exactMatch hgnc:ACP3 semapv:UnspecifiedMatching +OMIM:171790 ACPP skos:exactMatch hgnc.symbol:125 semapv:UnspecifiedMatching +OMIM:171790 ACPP skos:exactMatch hgnc.symbol:ACP3 semapv:UnspecifiedMatching OMIM:171790 ACPP skos:exactMatch ncbigene:55 semapv:UnspecifiedMatching -OMIM:171800 ALPP skos:exactMatch hgnc:ALPP semapv:UnspecifiedMatching +OMIM:171800 ALPP skos:exactMatch hgnc.symbol:439 semapv:UnspecifiedMatching +OMIM:171800 ALPP skos:exactMatch hgnc.symbol:ALPP semapv:UnspecifiedMatching OMIM:171800 ALPP skos:exactMatch ncbigene:250 semapv:UnspecifiedMatching -OMIM:171810 ALPPL2 skos:exactMatch hgnc:ALPG semapv:UnspecifiedMatching +OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:441 semapv:UnspecifiedMatching +OMIM:171810 ALPPL2 skos:exactMatch hgnc.symbol:ALPG semapv:UnspecifiedMatching OMIM:171810 ALPPL2 skos:exactMatch ncbigene:251 semapv:UnspecifiedMatching -OMIM:171833 PIK3R1 skos:exactMatch hgnc:PIK3R1 semapv:UnspecifiedMatching +OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:8979 semapv:UnspecifiedMatching +OMIM:171833 PIK3R1 skos:exactMatch hgnc.symbol:PIK3R1 semapv:UnspecifiedMatching OMIM:171833 PIK3R1 skos:exactMatch ncbigene:5295 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1335212 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching @@ -4652,86 +6236,121 @@ OMIM:171834 PIK3CA skos:exactMatch UMLS:C3554518 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749056 semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch UMLS:C4749057 semapv:UnspecifiedMatching -OMIM:171834 PIK3CA skos:exactMatch hgnc:PIK3CA semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:8975 semapv:UnspecifiedMatching +OMIM:171834 PIK3CA skos:exactMatch hgnc.symbol:PIK3CA semapv:UnspecifiedMatching OMIM:171834 PIK3CA skos:exactMatch ncbigene:5290 semapv:UnspecifiedMatching -OMIM:171835 PFKFB2 skos:exactMatch hgnc:PFKFB2 semapv:UnspecifiedMatching +OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:8873 semapv:UnspecifiedMatching +OMIM:171835 PFKFB2 skos:exactMatch hgnc.symbol:PFKFB2 semapv:UnspecifiedMatching OMIM:171835 PFKFB2 skos:exactMatch ncbigene:5208 semapv:UnspecifiedMatching OMIM:171840 PFKP skos:exactMatch UMLS:C1418493 semapv:UnspecifiedMatching -OMIM:171840 PFKP skos:exactMatch hgnc:PFKP semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch hgnc.symbol:8878 semapv:UnspecifiedMatching +OMIM:171840 PFKP skos:exactMatch hgnc.symbol:PFKP semapv:UnspecifiedMatching OMIM:171840 PFKP skos:exactMatch ncbigene:5214 semapv:UnspecifiedMatching -OMIM:171860 PFKL skos:exactMatch hgnc:PFKL semapv:UnspecifiedMatching +OMIM:171860 PFKL skos:exactMatch hgnc.symbol:8876 semapv:UnspecifiedMatching +OMIM:171860 PFKL skos:exactMatch hgnc.symbol:PFKL semapv:UnspecifiedMatching OMIM:171860 PFKL skos:exactMatch ncbigene:5211 semapv:UnspecifiedMatching OMIM:171885 PDE7A skos:exactMatch UMLS:C1418431 semapv:UnspecifiedMatching -OMIM:171885 PDE7A skos:exactMatch hgnc:PDE7A semapv:UnspecifiedMatching +OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:8791 semapv:UnspecifiedMatching +OMIM:171885 PDE7A skos:exactMatch hgnc.symbol:PDE7A semapv:UnspecifiedMatching OMIM:171885 PDE7A skos:exactMatch ncbigene:5150 semapv:UnspecifiedMatching -OMIM:171890 PDE1A skos:exactMatch hgnc:PDE1A semapv:UnspecifiedMatching +OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:8774 semapv:UnspecifiedMatching +OMIM:171890 PDE1A skos:exactMatch hgnc.symbol:PDE1A semapv:UnspecifiedMatching OMIM:171890 PDE1A skos:exactMatch ncbigene:5136 semapv:UnspecifiedMatching -OMIM:171891 PDE1B skos:exactMatch hgnc:PDE1B semapv:UnspecifiedMatching +OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:8775 semapv:UnspecifiedMatching +OMIM:171891 PDE1B skos:exactMatch hgnc.symbol:PDE1B semapv:UnspecifiedMatching OMIM:171891 PDE1B skos:exactMatch ncbigene:5153 semapv:UnspecifiedMatching -OMIM:171900 PGM1 skos:exactMatch hgnc:PGM1 semapv:UnspecifiedMatching +OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:8905 semapv:UnspecifiedMatching +OMIM:171900 PGM1 skos:exactMatch hgnc.symbol:PGM1 semapv:UnspecifiedMatching OMIM:171900 PGM1 skos:exactMatch ncbigene:5236 semapv:UnspecifiedMatching -OMIM:172000 PGM2 skos:exactMatch hgnc:PGM2 semapv:UnspecifiedMatching +OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:8906 semapv:UnspecifiedMatching +OMIM:172000 PGM2 skos:exactMatch hgnc.symbol:PGM2 semapv:UnspecifiedMatching OMIM:172000 PGM2 skos:exactMatch ncbigene:55276 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch UMLS:C1418518 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching -OMIM:172100 PGM3 skos:exactMatch hgnc:PGM3 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:8907 semapv:UnspecifiedMatching +OMIM:172100 PGM3 skos:exactMatch hgnc.symbol:PGM3 semapv:UnspecifiedMatching OMIM:172100 PGM3 skos:exactMatch ncbigene:5238 semapv:UnspecifiedMatching -OMIM:172200 PGD skos:exactMatch hgnc:PGD semapv:UnspecifiedMatching +OMIM:172200 PGD skos:exactMatch hgnc.symbol:8891 semapv:UnspecifiedMatching +OMIM:172200 PGD skos:exactMatch hgnc.symbol:PGD semapv:UnspecifiedMatching OMIM:172200 PGD skos:exactMatch ncbigene:5226 semapv:UnspecifiedMatching -OMIM:172250 PGAM1 skos:exactMatch hgnc:PGAM1 semapv:UnspecifiedMatching +OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:8888 semapv:UnspecifiedMatching +OMIM:172250 PGAM1 skos:exactMatch hgnc.symbol:PGAM1 semapv:UnspecifiedMatching OMIM:172250 PGAM1 skos:exactMatch ncbigene:5223 semapv:UnspecifiedMatching -OMIM:172270 PGK2 skos:exactMatch hgnc:PGK2 semapv:UnspecifiedMatching +OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:8898 semapv:UnspecifiedMatching +OMIM:172270 PGK2 skos:exactMatch hgnc.symbol:PGK2 semapv:UnspecifiedMatching OMIM:172270 PGK2 skos:exactMatch ncbigene:5232 semapv:UnspecifiedMatching -OMIM:172280 PGP skos:exactMatch hgnc:PGP semapv:UnspecifiedMatching +OMIM:172280 PGP skos:exactMatch hgnc.symbol:8909 semapv:UnspecifiedMatching +OMIM:172280 PGP skos:exactMatch hgnc.symbol:PGP semapv:UnspecifiedMatching OMIM:172280 PGP skos:exactMatch ncbigene:283871 semapv:UnspecifiedMatching -OMIM:172400 GPI skos:exactMatch hgnc:GPI semapv:UnspecifiedMatching +OMIM:172400 GPI skos:exactMatch hgnc.symbol:4458 semapv:UnspecifiedMatching +OMIM:172400 GPI skos:exactMatch hgnc.symbol:GPI semapv:UnspecifiedMatching OMIM:172400 GPI skos:exactMatch ncbigene:2821 semapv:UnspecifiedMatching -OMIM:172405 PLN skos:exactMatch hgnc:PLN semapv:UnspecifiedMatching +OMIM:172405 PLN skos:exactMatch hgnc.symbol:9080 semapv:UnspecifiedMatching +OMIM:172405 PLN skos:exactMatch hgnc.symbol:PLN semapv:UnspecifiedMatching OMIM:172405 PLN skos:exactMatch ncbigene:5350 semapv:UnspecifiedMatching -OMIM:172410 PLA2G1B skos:exactMatch hgnc:PLA2G1B semapv:UnspecifiedMatching +OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:9030 semapv:UnspecifiedMatching +OMIM:172410 PLA2G1B skos:exactMatch hgnc.symbol:PLA2G1B semapv:UnspecifiedMatching OMIM:172410 PLA2G1B skos:exactMatch ncbigene:5319 semapv:UnspecifiedMatching -OMIM:172411 PLA2G2A skos:exactMatch hgnc:PLA2G2A semapv:UnspecifiedMatching +OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:9031 semapv:UnspecifiedMatching +OMIM:172411 PLA2G2A skos:exactMatch hgnc.symbol:PLA2G2A semapv:UnspecifiedMatching OMIM:172411 PLA2G2A skos:exactMatch ncbigene:5320 semapv:UnspecifiedMatching -OMIM:172420 PLCG1 skos:exactMatch hgnc:PLCG1 semapv:UnspecifiedMatching +OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:9065 semapv:UnspecifiedMatching +OMIM:172420 PLCG1 skos:exactMatch hgnc.symbol:PLCG1 semapv:UnspecifiedMatching OMIM:172420 PLCG1 skos:exactMatch ncbigene:5335 semapv:UnspecifiedMatching -OMIM:172425 PLTP skos:exactMatch hgnc:PLTP semapv:UnspecifiedMatching +OMIM:172425 PLTP skos:exactMatch hgnc.symbol:9093 semapv:UnspecifiedMatching +OMIM:172425 PLTP skos:exactMatch hgnc.symbol:PLTP semapv:UnspecifiedMatching OMIM:172425 PLTP skos:exactMatch ncbigene:5360 semapv:UnspecifiedMatching -OMIM:172430 ENO1 skos:exactMatch hgnc:ENO1 semapv:UnspecifiedMatching +OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:3350 semapv:UnspecifiedMatching +OMIM:172430 ENO1 skos:exactMatch hgnc.symbol:ENO1 semapv:UnspecifiedMatching OMIM:172430 ENO1 skos:exactMatch ncbigene:2023 semapv:UnspecifiedMatching -OMIM:172439 PAICS skos:exactMatch hgnc:PAICS semapv:UnspecifiedMatching +OMIM:172439 PAICS skos:exactMatch hgnc.symbol:8587 semapv:UnspecifiedMatching +OMIM:172439 PAICS skos:exactMatch hgnc.symbol:PAICS semapv:UnspecifiedMatching OMIM:172439 PAICS skos:exactMatch ncbigene:10606 semapv:UnspecifiedMatching -OMIM:172450 PPAT skos:exactMatch hgnc:PPAT semapv:UnspecifiedMatching +OMIM:172450 PPAT skos:exactMatch hgnc.symbol:9238 semapv:UnspecifiedMatching +OMIM:172450 PPAT skos:exactMatch hgnc.symbol:PPAT semapv:UnspecifiedMatching OMIM:172450 PPAT skos:exactMatch ncbigene:5471 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C1417420 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016262 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4016322 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540543 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch UMLS:C4540670 semapv:UnspecifiedMatching -OMIM:172460 MTHFD1 skos:exactMatch hgnc:MTHFD1 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:7432 semapv:UnspecifiedMatching +OMIM:172460 MTHFD1 skos:exactMatch hgnc.symbol:MTHFD1 semapv:UnspecifiedMatching OMIM:172460 MTHFD1 skos:exactMatch ncbigene:4522 semapv:UnspecifiedMatching -OMIM:172470 PHKG1 skos:exactMatch hgnc:PHKG1 semapv:UnspecifiedMatching +OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:8930 semapv:UnspecifiedMatching +OMIM:172470 PHKG1 skos:exactMatch hgnc.symbol:PHKG1 semapv:UnspecifiedMatching OMIM:172470 PHKG1 skos:exactMatch ncbigene:5260 semapv:UnspecifiedMatching -OMIM:172471 PHKG2 skos:exactMatch hgnc:PHKG2 semapv:UnspecifiedMatching +OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:8931 semapv:UnspecifiedMatching +OMIM:172471 PHKG2 skos:exactMatch hgnc.symbol:PHKG2 semapv:UnspecifiedMatching OMIM:172471 PHKG2 skos:exactMatch ncbigene:5261 semapv:UnspecifiedMatching -OMIM:172480 PSPH skos:exactMatch hgnc:PSPH semapv:UnspecifiedMatching +OMIM:172480 PSPH skos:exactMatch hgnc.symbol:9577 semapv:UnspecifiedMatching +OMIM:172480 PSPH skos:exactMatch hgnc.symbol:PSPH semapv:UnspecifiedMatching OMIM:172480 PSPH skos:exactMatch ncbigene:5723 semapv:UnspecifiedMatching -OMIM:172490 PHKB skos:exactMatch hgnc:PHKB semapv:UnspecifiedMatching +OMIM:172490 PHKB skos:exactMatch hgnc.symbol:8927 semapv:UnspecifiedMatching +OMIM:172490 PHKB skos:exactMatch hgnc.symbol:PHKB semapv:UnspecifiedMatching OMIM:172490 PHKB skos:exactMatch ncbigene:5257 semapv:UnspecifiedMatching -OMIM:172860 SERPINF1 skos:exactMatch hgnc:SERPINF1 semapv:UnspecifiedMatching +OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:8824 semapv:UnspecifiedMatching +OMIM:172860 SERPINF1 skos:exactMatch hgnc.symbol:SERPINF1 semapv:UnspecifiedMatching OMIM:172860 SERPINF1 skos:exactMatch ncbigene:5176 semapv:UnspecifiedMatching OMIM:173110 POU1F1 skos:exactMatch UMLS:C1418759 semapv:UnspecifiedMatching OMIM:173110 POU1F1 skos:exactMatch UMLS:C2751608 semapv:UnspecifiedMatching -OMIM:173110 POU1F1 skos:exactMatch hgnc:POU1F1 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:9210 semapv:UnspecifiedMatching +OMIM:173110 POU1F1 skos:exactMatch hgnc.symbol:POU1F1 semapv:UnspecifiedMatching OMIM:173110 POU1F1 skos:exactMatch ncbigene:5449 semapv:UnspecifiedMatching -OMIM:173120 SGNE1 skos:exactMatch hgnc:SCG5 semapv:UnspecifiedMatching +OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:10816 semapv:UnspecifiedMatching +OMIM:173120 SGNE1 skos:exactMatch hgnc.symbol:SCG5 semapv:UnspecifiedMatching OMIM:173120 SGNE1 skos:exactMatch ncbigene:6447 semapv:UnspecifiedMatching -OMIM:173310 PAEP skos:exactMatch hgnc:PAEP semapv:UnspecifiedMatching +OMIM:173310 PAEP skos:exactMatch hgnc.symbol:8573 semapv:UnspecifiedMatching +OMIM:173310 PAEP skos:exactMatch hgnc.symbol:PAEP semapv:UnspecifiedMatching OMIM:173310 PAEP skos:exactMatch ncbigene:5047 semapv:UnspecifiedMatching -OMIM:173320 RNH1 skos:exactMatch hgnc:RNH1 semapv:UnspecifiedMatching +OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:10074 semapv:UnspecifiedMatching +OMIM:173320 RNH1 skos:exactMatch hgnc.symbol:RNH1 semapv:UnspecifiedMatching OMIM:173320 RNH1 skos:exactMatch ncbigene:6050 semapv:UnspecifiedMatching -OMIM:173321 SERPINB6 skos:exactMatch hgnc:SERPINB6 semapv:UnspecifiedMatching +OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:8950 semapv:UnspecifiedMatching +OMIM:173321 SERPINB6 skos:exactMatch hgnc.symbol:SERPINB6 semapv:UnspecifiedMatching OMIM:173321 SERPINB6 skos:exactMatch ncbigene:5269 semapv:UnspecifiedMatching -OMIM:173325 JUP skos:exactMatch hgnc:JUP semapv:UnspecifiedMatching +OMIM:173325 JUP skos:exactMatch hgnc.symbol:6207 semapv:UnspecifiedMatching +OMIM:173325 JUP skos:exactMatch hgnc.symbol:JUP semapv:UnspecifiedMatching OMIM:173325 JUP skos:exactMatch ncbigene:3728 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C1414407 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C1852091 semapv:UnspecifiedMatching @@ -4741,128 +6360,170 @@ OMIM:173335 ENPP1 skos:exactMatch UMLS:C3809781 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch UMLS:C5436943 semapv:UnspecifiedMatching -OMIM:173335 ENPP1 skos:exactMatch hgnc:ENPP1 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:3356 semapv:UnspecifiedMatching +OMIM:173335 ENPP1 skos:exactMatch hgnc.symbol:ENPP1 semapv:UnspecifiedMatching OMIM:173335 ENPP1 skos:exactMatch ncbigene:5167 semapv:UnspecifiedMatching -OMIM:173340 PLGLB1 skos:exactMatch hgnc:PLGLB1 semapv:UnspecifiedMatching +OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:9072 semapv:UnspecifiedMatching +OMIM:173340 PLGLB1 skos:exactMatch hgnc.symbol:PLGLB1 semapv:UnspecifiedMatching OMIM:173340 PLGLB1 skos:exactMatch ncbigene:5343 semapv:UnspecifiedMatching -OMIM:173350 PLG skos:exactMatch hgnc:PLG semapv:UnspecifiedMatching +OMIM:173350 PLG skos:exactMatch hgnc.symbol:9071 semapv:UnspecifiedMatching +OMIM:173350 PLG skos:exactMatch hgnc.symbol:PLG semapv:UnspecifiedMatching OMIM:173350 PLG skos:exactMatch ncbigene:5340 semapv:UnspecifiedMatching -OMIM:173360 SERPINE1 skos:exactMatch hgnc:SERPINE1 semapv:UnspecifiedMatching +OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:8583 semapv:UnspecifiedMatching +OMIM:173360 SERPINE1 skos:exactMatch hgnc.symbol:SERPINE1 semapv:UnspecifiedMatching OMIM:173360 SERPINE1 skos:exactMatch ncbigene:5054 semapv:UnspecifiedMatching -OMIM:173370 PLAT skos:exactMatch hgnc:PLAT semapv:UnspecifiedMatching +OMIM:173370 PLAT skos:exactMatch hgnc.symbol:9051 semapv:UnspecifiedMatching +OMIM:173370 PLAT skos:exactMatch hgnc.symbol:PLAT semapv:UnspecifiedMatching OMIM:173370 PLAT skos:exactMatch ncbigene:5327 semapv:UnspecifiedMatching -OMIM:173390 SERPINB2 skos:exactMatch hgnc:SERPINB2 semapv:UnspecifiedMatching +OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:8584 semapv:UnspecifiedMatching +OMIM:173390 SERPINB2 skos:exactMatch hgnc.symbol:SERPINB2 semapv:UnspecifiedMatching OMIM:173390 SERPINB2 skos:exactMatch ncbigene:5055 semapv:UnspecifiedMatching -OMIM:173391 PLAUR skos:exactMatch hgnc:PLAUR semapv:UnspecifiedMatching +OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:9053 semapv:UnspecifiedMatching +OMIM:173391 PLAUR skos:exactMatch hgnc.symbol:PLAUR semapv:UnspecifiedMatching OMIM:173391 PLAUR skos:exactMatch ncbigene:5329 semapv:UnspecifiedMatching -OMIM:173393 PTAFR skos:exactMatch hgnc:PTAFR semapv:UnspecifiedMatching +OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:9582 semapv:UnspecifiedMatching +OMIM:173393 PTAFR skos:exactMatch hgnc.symbol:PTAFR semapv:UnspecifiedMatching OMIM:173393 PTAFR skos:exactMatch ncbigene:5724 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C1335202 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C1866182 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C3554321 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching -OMIM:173410 PDGFRB skos:exactMatch hgnc:PDGFRB semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:8804 semapv:UnspecifiedMatching +OMIM:173410 PDGFRB skos:exactMatch hgnc.symbol:PDGFRB semapv:UnspecifiedMatching OMIM:173410 PDGFRB skos:exactMatch ncbigene:5159 semapv:UnspecifiedMatching -OMIM:173430 PDGFA skos:exactMatch hgnc:PDGFA semapv:UnspecifiedMatching +OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:8799 semapv:UnspecifiedMatching +OMIM:173430 PDGFA skos:exactMatch hgnc.symbol:PDGFA semapv:UnspecifiedMatching OMIM:173430 PDGFA skos:exactMatch ncbigene:5154 semapv:UnspecifiedMatching -OMIM:173445 PECAM1 skos:exactMatch hgnc:PECAM1 semapv:UnspecifiedMatching +OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:8823 semapv:UnspecifiedMatching +OMIM:173445 PECAM1 skos:exactMatch hgnc.symbol:PECAM1 semapv:UnspecifiedMatching OMIM:173445 PECAM1 skos:exactMatch ncbigene:5175 semapv:UnspecifiedMatching -OMIM:173460 PF4 skos:exactMatch hgnc:PF4 semapv:UnspecifiedMatching +OMIM:173460 PF4 skos:exactMatch hgnc.symbol:8861 semapv:UnspecifiedMatching +OMIM:173460 PF4 skos:exactMatch hgnc.symbol:PF4 semapv:UnspecifiedMatching OMIM:173460 PF4 skos:exactMatch ncbigene:5196 semapv:UnspecifiedMatching -OMIM:173461 PF4V1 skos:exactMatch hgnc:PF4V1 semapv:UnspecifiedMatching +OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:8862 semapv:UnspecifiedMatching +OMIM:173461 PF4V1 skos:exactMatch hgnc.symbol:PF4V1 semapv:UnspecifiedMatching OMIM:173461 PF4V1 skos:exactMatch ncbigene:5197 semapv:UnspecifiedMatching -OMIM:173470 ITGB3 skos:exactMatch hgnc:ITGB3 semapv:UnspecifiedMatching +OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:6156 semapv:UnspecifiedMatching +OMIM:173470 ITGB3 skos:exactMatch hgnc.symbol:ITGB3 semapv:UnspecifiedMatching OMIM:173470 ITGB3 skos:exactMatch ncbigene:3690 semapv:UnspecifiedMatching -OMIM:173490 PDGFRA skos:exactMatch hgnc:PDGFRA semapv:UnspecifiedMatching +OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:8803 semapv:UnspecifiedMatching +OMIM:173490 PDGFRA skos:exactMatch hgnc.symbol:PDGFRA semapv:UnspecifiedMatching OMIM:173490 PDGFRA skos:exactMatch ncbigene:5156 semapv:UnspecifiedMatching -OMIM:173510 CD36 skos:exactMatch hgnc:CD36 semapv:UnspecifiedMatching +OMIM:173510 CD36 skos:exactMatch hgnc.symbol:1663 semapv:UnspecifiedMatching +OMIM:173510 CD36 skos:exactMatch hgnc.symbol:CD36 semapv:UnspecifiedMatching OMIM:173510 CD36 skos:exactMatch ncbigene:948 semapv:UnspecifiedMatching -OMIM:173511 GP5 skos:exactMatch hgnc:GP5 semapv:UnspecifiedMatching +OMIM:173511 GP5 skos:exactMatch hgnc.symbol:4443 semapv:UnspecifiedMatching +OMIM:173511 GP5 skos:exactMatch hgnc.symbol:GP5 semapv:UnspecifiedMatching OMIM:173511 GP5 skos:exactMatch ncbigene:2814 semapv:UnspecifiedMatching -OMIM:173515 GP9 skos:exactMatch hgnc:GP9 semapv:UnspecifiedMatching +OMIM:173515 GP9 skos:exactMatch hgnc.symbol:4444 semapv:UnspecifiedMatching +OMIM:173515 GP9 skos:exactMatch hgnc.symbol:GP9 semapv:UnspecifiedMatching OMIM:173515 GP9 skos:exactMatch ncbigene:2815 semapv:UnspecifiedMatching -OMIM:173570 PLEK skos:exactMatch hgnc:PLEK semapv:UnspecifiedMatching +OMIM:173570 PLEK skos:exactMatch hgnc.symbol:9070 semapv:UnspecifiedMatching +OMIM:173570 PLEK skos:exactMatch hgnc.symbol:PLEK semapv:UnspecifiedMatching OMIM:173570 PLEK skos:exactMatch ncbigene:5341 semapv:UnspecifiedMatching -OMIM:173610 SELP skos:exactMatch hgnc:SELP semapv:UnspecifiedMatching +OMIM:173610 SELP skos:exactMatch hgnc.symbol:10721 semapv:UnspecifiedMatching +OMIM:173610 SELP skos:exactMatch hgnc.symbol:SELP semapv:UnspecifiedMatching OMIM:173610 SELP skos:exactMatch ncbigene:6403 semapv:UnspecifiedMatching -OMIM:173850 PVR skos:exactMatch hgnc:PVR semapv:UnspecifiedMatching +OMIM:173850 PVR skos:exactMatch hgnc.symbol:9705 semapv:UnspecifiedMatching +OMIM:173850 PVR skos:exactMatch hgnc.symbol:PVR semapv:UnspecifiedMatching OMIM:173850 PVR skos:exactMatch ncbigene:5817 semapv:UnspecifiedMatching OMIM:173870 PARP1 skos:exactMatch UMLS:C1538577 semapv:UnspecifiedMatching -OMIM:173870 PARP1 skos:exactMatch hgnc:PARP1 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:270 semapv:UnspecifiedMatching +OMIM:173870 PARP1 skos:exactMatch hgnc.symbol:PARP1 semapv:UnspecifiedMatching OMIM:173870 PARP1 skos:exactMatch ncbigene:142 semapv:UnspecifiedMatching -OMIM:173880 PIGR skos:exactMatch hgnc:PIGR semapv:UnspecifiedMatching +OMIM:173880 PIGR skos:exactMatch hgnc.symbol:8968 semapv:UnspecifiedMatching +OMIM:173880 PIGR skos:exactMatch hgnc.symbol:PIGR semapv:UnspecifiedMatching OMIM:173880 PIGR skos:exactMatch ncbigene:5284 semapv:UnspecifiedMatching -OMIM:173910 PKD2 skos:exactMatch hgnc:PKD2 semapv:UnspecifiedMatching +OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:9009 semapv:UnspecifiedMatching +OMIM:173910 PKD2 skos:exactMatch hgnc.symbol:PKD2 semapv:UnspecifiedMatching OMIM:173910 PKD2 skos:exactMatch ncbigene:5311 semapv:UnspecifiedMatching +OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch Orphanet:2919 semapv:UnspecifiedMatching OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching -OMIM:174300 orofaciodigital syndrome 5 skos:exactMatch orphanet.ordo:2919 semapv:UnspecifiedMatching -OMIM:174760 POLB skos:exactMatch hgnc:POLB semapv:UnspecifiedMatching +OMIM:174760 POLB skos:exactMatch hgnc.symbol:9174 semapv:UnspecifiedMatching +OMIM:174760 POLB skos:exactMatch hgnc.symbol:POLB semapv:UnspecifiedMatching OMIM:174760 POLB skos:exactMatch ncbigene:5423 semapv:UnspecifiedMatching -OMIM:174761 POLD1 skos:exactMatch hgnc:POLD1 semapv:UnspecifiedMatching +OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:9175 semapv:UnspecifiedMatching +OMIM:174761 POLD1 skos:exactMatch hgnc.symbol:POLD1 semapv:UnspecifiedMatching OMIM:174761 POLD1 skos:exactMatch ncbigene:5424 semapv:UnspecifiedMatching -OMIM:174762 POLE skos:exactMatch hgnc:POLE semapv:UnspecifiedMatching +OMIM:174762 POLE skos:exactMatch hgnc.symbol:9177 semapv:UnspecifiedMatching +OMIM:174762 POLE skos:exactMatch hgnc.symbol:POLE semapv:UnspecifiedMatching OMIM:174762 POLE skos:exactMatch ncbigene:5426 semapv:UnspecifiedMatching -OMIM:174763 POLG skos:exactMatch hgnc:POLG semapv:UnspecifiedMatching +OMIM:174763 POLG skos:exactMatch hgnc.symbol:9179 semapv:UnspecifiedMatching +OMIM:174763 POLG skos:exactMatch hgnc.symbol:POLG semapv:UnspecifiedMatching OMIM:174763 POLG skos:exactMatch ncbigene:5428 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:247806 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:733 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:79665 semapv:UnspecifiedMatching +OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch Orphanet:99818 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2673218 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2674616 semapv:UnspecifiedMatching OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch UMLS:C2713442 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch orphanet.ordo:220460 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch orphanet.ordo:247806 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch orphanet.ordo:733 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch orphanet.ordo:79665 semapv:UnspecifiedMatching -OMIM:175100 familial adenomatous polyposis 1 skos:exactMatch orphanet.ordo:99818 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 semapv:UnspecifiedMatching +OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C2675650 semapv:UnspecifiedMatching OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4551998 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch orphanet.ordo:2940 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch orphanet.ordo:36383 semapv:UnspecifiedMatching -OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch orphanet.ordo:99810 semapv:UnspecifiedMatching +OMIM:176000 porphyria, acute intermittent skos:exactMatch Orphanet:79276 semapv:UnspecifiedMatching OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C0268322 semapv:UnspecifiedMatching OMIM:176000 porphyria, acute intermittent skos:exactMatch UMLS:C2936779 semapv:UnspecifiedMatching -OMIM:176000 porphyria, acute intermittent skos:exactMatch orphanet.ordo:79276 semapv:UnspecifiedMatching -OMIM:176256 KCNC2 skos:exactMatch hgnc:KCNC2 semapv:UnspecifiedMatching +OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:6234 semapv:UnspecifiedMatching +OMIM:176256 KCNC2 skos:exactMatch hgnc.symbol:KCNC2 semapv:UnspecifiedMatching OMIM:176256 KCNC2 skos:exactMatch ncbigene:3747 semapv:UnspecifiedMatching -OMIM:176257 KCNA6 skos:exactMatch hgnc:KCNA6 semapv:UnspecifiedMatching +OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:6225 semapv:UnspecifiedMatching +OMIM:176257 KCNA6 skos:exactMatch hgnc.symbol:KCNA6 semapv:UnspecifiedMatching OMIM:176257 KCNA6 skos:exactMatch ncbigene:3742 semapv:UnspecifiedMatching -OMIM:176258 KCNC1 skos:exactMatch hgnc:KCNC1 semapv:UnspecifiedMatching +OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:6233 semapv:UnspecifiedMatching +OMIM:176258 KCNC1 skos:exactMatch hgnc.symbol:KCNC1 semapv:UnspecifiedMatching OMIM:176258 KCNC1 skos:exactMatch ncbigene:3746 semapv:UnspecifiedMatching -OMIM:176260 KCNA1 skos:exactMatch hgnc:KCNA1 semapv:UnspecifiedMatching +OMIM:176260 KCNA1 skos:exactMatch hgnc.symbol:6218 semapv:UnspecifiedMatching +OMIM:176260 KCNA1 skos:exactMatch hgnc.symbol:KCNA1 semapv:UnspecifiedMatching OMIM:176260 KCNA1 skos:exactMatch ncbigene:3736 semapv:UnspecifiedMatching -OMIM:176261 KCNE1 skos:exactMatch hgnc:KCNE1 semapv:UnspecifiedMatching +OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:6240 semapv:UnspecifiedMatching +OMIM:176261 KCNE1 skos:exactMatch hgnc.symbol:KCNE1 semapv:UnspecifiedMatching OMIM:176261 KCNE1 skos:exactMatch ncbigene:3753 semapv:UnspecifiedMatching OMIM:176262 KCNA2 skos:exactMatch UMLS:C1416545 semapv:UnspecifiedMatching OMIM:176262 KCNA2 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching -OMIM:176262 KCNA2 skos:exactMatch hgnc:KCNA2 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:6220 semapv:UnspecifiedMatching +OMIM:176262 KCNA2 skos:exactMatch hgnc.symbol:KCNA2 semapv:UnspecifiedMatching OMIM:176262 KCNA2 skos:exactMatch ncbigene:3737 semapv:UnspecifiedMatching -OMIM:176263 KCNA3 skos:exactMatch hgnc:KCNA3 semapv:UnspecifiedMatching +OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:6221 semapv:UnspecifiedMatching +OMIM:176263 KCNA3 skos:exactMatch hgnc.symbol:KCNA3 semapv:UnspecifiedMatching OMIM:176263 KCNA3 skos:exactMatch ncbigene:3738 semapv:UnspecifiedMatching -OMIM:176264 KCNC3 skos:exactMatch hgnc:KCNC3 semapv:UnspecifiedMatching +OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:6235 semapv:UnspecifiedMatching +OMIM:176264 KCNC3 skos:exactMatch hgnc.symbol:KCNC3 semapv:UnspecifiedMatching OMIM:176264 KCNC3 skos:exactMatch ncbigene:3748 semapv:UnspecifiedMatching -OMIM:176265 KCNC4 skos:exactMatch hgnc:KCNC4 semapv:UnspecifiedMatching +OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:6236 semapv:UnspecifiedMatching +OMIM:176265 KCNC4 skos:exactMatch hgnc.symbol:KCNC4 semapv:UnspecifiedMatching OMIM:176265 KCNC4 skos:exactMatch ncbigene:3749 semapv:UnspecifiedMatching -OMIM:176266 KCNA4 skos:exactMatch hgnc:KCNA4 semapv:UnspecifiedMatching +OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:6222 semapv:UnspecifiedMatching +OMIM:176266 KCNA4 skos:exactMatch hgnc.symbol:KCNA4 semapv:UnspecifiedMatching OMIM:176266 KCNA4 skos:exactMatch ncbigene:3739 semapv:UnspecifiedMatching -OMIM:176267 KCNA5 skos:exactMatch hgnc:KCNA5 semapv:UnspecifiedMatching +OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:6224 semapv:UnspecifiedMatching +OMIM:176267 KCNA5 skos:exactMatch hgnc.symbol:KCNA5 semapv:UnspecifiedMatching OMIM:176267 KCNA5 skos:exactMatch ncbigene:3741 semapv:UnspecifiedMatching -OMIM:176268 KCNA7 skos:exactMatch hgnc:KCNA7 semapv:UnspecifiedMatching +OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:6226 semapv:UnspecifiedMatching +OMIM:176268 KCNA7 skos:exactMatch hgnc.symbol:KCNA7 semapv:UnspecifiedMatching OMIM:176268 KCNA7 skos:exactMatch ncbigene:3743 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177907 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:177910 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching +OMIM:176270 prader-willi syndrome skos:exactMatch Orphanet:98754 semapv:UnspecifiedMatching OMIM:176270 prader-willi syndrome skos:exactMatch UMLS:C0032897 semapv:UnspecifiedMatching OMIM:176270 prader-willi syndrome skos:exactMatch UMLS:C1867858 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch orphanet.ordo:177907 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch orphanet.ordo:177910 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch orphanet.ordo:739 semapv:UnspecifiedMatching -OMIM:176270 prader-willi syndrome skos:exactMatch orphanet.ordo:98754 semapv:UnspecifiedMatching OMIM:176290 DLK1 skos:exactMatch UMLS:C1414069 semapv:UnspecifiedMatching -OMIM:176290 DLK1 skos:exactMatch hgnc:DLK1 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:2907 semapv:UnspecifiedMatching +OMIM:176290 DLK1 skos:exactMatch hgnc.symbol:DLK1 semapv:UnspecifiedMatching OMIM:176290 DLK1 skos:exactMatch ncbigene:8788 semapv:UnspecifiedMatching -OMIM:176300 TTR skos:exactMatch hgnc:TTR semapv:UnspecifiedMatching +OMIM:176300 TTR skos:exactMatch hgnc.symbol:12405 semapv:UnspecifiedMatching +OMIM:176300 TTR skos:exactMatch hgnc.symbol:TTR semapv:UnspecifiedMatching OMIM:176300 TTR skos:exactMatch ncbigene:7276 semapv:UnspecifiedMatching +OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch Orphanet:2957 semapv:UnspecifiedMatching OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch UMLS:C1867801 semapv:UnspecifiedMatching -OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias skos:exactMatch orphanet.ordo:2957 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C1418285 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C1418287 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C4539968 semapv:UnspecifiedMatching @@ -4870,46 +6531,66 @@ OMIM:176310 PBX1 skos:exactMatch UMLS:C4540544 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C4693971 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C4693972 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch UMLS:C4693973 semapv:UnspecifiedMatching -OMIM:176310 PBX1 skos:exactMatch hgnc:PBX1 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:8632 semapv:UnspecifiedMatching +OMIM:176310 PBX1 skos:exactMatch hgnc.symbol:PBX1 semapv:UnspecifiedMatching OMIM:176310 PBX1 skos:exactMatch ncbigene:5087 semapv:UnspecifiedMatching -OMIM:176311 PBX2 skos:exactMatch hgnc:PBX2 semapv:UnspecifiedMatching +OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:8633 semapv:UnspecifiedMatching +OMIM:176311 PBX2 skos:exactMatch hgnc.symbol:PBX2 semapv:UnspecifiedMatching OMIM:176311 PBX2 skos:exactMatch ncbigene:5089 semapv:UnspecifiedMatching -OMIM:176312 PBX3 skos:exactMatch hgnc:PBX3 semapv:UnspecifiedMatching +OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:8634 semapv:UnspecifiedMatching +OMIM:176312 PBX3 skos:exactMatch hgnc.symbol:PBX3 semapv:UnspecifiedMatching OMIM:176312 PBX3 skos:exactMatch ncbigene:5090 semapv:UnspecifiedMatching -OMIM:176385 PAPPA skos:exactMatch hgnc:PAPPA semapv:UnspecifiedMatching +OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:8602 semapv:UnspecifiedMatching +OMIM:176385 PAPPA skos:exactMatch hgnc.symbol:PAPPA semapv:UnspecifiedMatching OMIM:176385 PAPPA skos:exactMatch ncbigene:5069 semapv:UnspecifiedMatching -OMIM:176390 PSG1 skos:exactMatch hgnc:PSG1 semapv:UnspecifiedMatching +OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:9514 semapv:UnspecifiedMatching +OMIM:176390 PSG1 skos:exactMatch hgnc.symbol:PSG1 semapv:UnspecifiedMatching OMIM:176390 PSG1 skos:exactMatch ncbigene:5669 semapv:UnspecifiedMatching -OMIM:176391 PSG2 skos:exactMatch hgnc:PSG2 semapv:UnspecifiedMatching +OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:9519 semapv:UnspecifiedMatching +OMIM:176391 PSG2 skos:exactMatch hgnc.symbol:PSG2 semapv:UnspecifiedMatching OMIM:176391 PSG2 skos:exactMatch ncbigene:5670 semapv:UnspecifiedMatching -OMIM:176392 PSG3 skos:exactMatch hgnc:PSG3 semapv:UnspecifiedMatching +OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:9520 semapv:UnspecifiedMatching +OMIM:176392 PSG3 skos:exactMatch hgnc.symbol:PSG3 semapv:UnspecifiedMatching OMIM:176392 PSG3 skos:exactMatch ncbigene:5671 semapv:UnspecifiedMatching -OMIM:176393 PSG4 skos:exactMatch hgnc:PSG4 semapv:UnspecifiedMatching +OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:9521 semapv:UnspecifiedMatching +OMIM:176393 PSG4 skos:exactMatch hgnc.symbol:PSG4 semapv:UnspecifiedMatching OMIM:176393 PSG4 skos:exactMatch ncbigene:5672 semapv:UnspecifiedMatching -OMIM:176394 PSG5 skos:exactMatch hgnc:PSG5 semapv:UnspecifiedMatching +OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:9522 semapv:UnspecifiedMatching +OMIM:176394 PSG5 skos:exactMatch hgnc.symbol:PSG5 semapv:UnspecifiedMatching OMIM:176394 PSG5 skos:exactMatch ncbigene:5673 semapv:UnspecifiedMatching -OMIM:176395 PSG6 skos:exactMatch hgnc:PSG6 semapv:UnspecifiedMatching +OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:9523 semapv:UnspecifiedMatching +OMIM:176395 PSG6 skos:exactMatch hgnc.symbol:PSG6 semapv:UnspecifiedMatching OMIM:176395 PSG6 skos:exactMatch ncbigene:5675 semapv:UnspecifiedMatching -OMIM:176396 PSG7 skos:exactMatch hgnc:PSG7 semapv:UnspecifiedMatching +OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:9524 semapv:UnspecifiedMatching +OMIM:176396 PSG7 skos:exactMatch hgnc.symbol:PSG7 semapv:UnspecifiedMatching OMIM:176396 PSG7 skos:exactMatch ncbigene:5676 semapv:UnspecifiedMatching -OMIM:176397 PSG8 skos:exactMatch hgnc:PSG8 semapv:UnspecifiedMatching +OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:9525 semapv:UnspecifiedMatching +OMIM:176397 PSG8 skos:exactMatch hgnc.symbol:PSG8 semapv:UnspecifiedMatching OMIM:176397 PSG8 skos:exactMatch ncbigene:440533 semapv:UnspecifiedMatching -OMIM:176398 PSG9 skos:exactMatch hgnc:PSG9 semapv:UnspecifiedMatching +OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:9526 semapv:UnspecifiedMatching +OMIM:176398 PSG9 skos:exactMatch hgnc.symbol:PSG9 semapv:UnspecifiedMatching OMIM:176398 PSG9 skos:exactMatch ncbigene:5678 semapv:UnspecifiedMatching OMIM:176399 PSG10P skos:exactMatch UMLS:C1418992 semapv:UnspecifiedMatching -OMIM:176399 PSG10P skos:exactMatch hgnc:PSG10P semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:9515 semapv:UnspecifiedMatching +OMIM:176399 PSG10P skos:exactMatch hgnc.symbol:PSG10P semapv:UnspecifiedMatching OMIM:176399 PSG10P skos:exactMatch ncbigene:653492 semapv:UnspecifiedMatching -OMIM:176401 PSG11 skos:exactMatch hgnc:PSG11 semapv:UnspecifiedMatching +OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:9516 semapv:UnspecifiedMatching +OMIM:176401 PSG11 skos:exactMatch hgnc.symbol:PSG11 semapv:UnspecifiedMatching OMIM:176401 PSG11 skos:exactMatch ncbigene:5680 semapv:UnspecifiedMatching -OMIM:176420 PZP skos:exactMatch hgnc:PZP semapv:UnspecifiedMatching +OMIM:176420 PZP skos:exactMatch hgnc.symbol:9750 semapv:UnspecifiedMatching +OMIM:176420 PZP skos:exactMatch hgnc.symbol:PZP semapv:UnspecifiedMatching OMIM:176420 PZP skos:exactMatch ncbigene:5858 semapv:UnspecifiedMatching -OMIM:176590 PFN2 skos:exactMatch hgnc:PFN2 semapv:UnspecifiedMatching +OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:8882 semapv:UnspecifiedMatching +OMIM:176590 PFN2 skos:exactMatch hgnc.symbol:PFN2 semapv:UnspecifiedMatching OMIM:176590 PFN2 skos:exactMatch ncbigene:5217 semapv:UnspecifiedMatching -OMIM:176610 PFN1 skos:exactMatch hgnc:PFN1 semapv:UnspecifiedMatching +OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:8881 semapv:UnspecifiedMatching +OMIM:176610 PFN1 skos:exactMatch hgnc.symbol:PFN1 semapv:UnspecifiedMatching OMIM:176610 PFN1 skos:exactMatch ncbigene:5216 semapv:UnspecifiedMatching -OMIM:176635 PRIM1 skos:exactMatch hgnc:PRIM1 semapv:UnspecifiedMatching +OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:9369 semapv:UnspecifiedMatching +OMIM:176635 PRIM1 skos:exactMatch hgnc.symbol:PRIM1 semapv:UnspecifiedMatching OMIM:176635 PRIM1 skos:exactMatch ncbigene:5557 semapv:UnspecifiedMatching -OMIM:176636 PRIM2A skos:exactMatch hgnc:PRIM2 semapv:UnspecifiedMatching +OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:9370 semapv:UnspecifiedMatching +OMIM:176636 PRIM2A skos:exactMatch hgnc.symbol:PRIM2 semapv:UnspecifiedMatching OMIM:176636 PRIM2A skos:exactMatch ncbigene:5558 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C0017495 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C0022336 semapv:UnspecifiedMatching @@ -4923,94 +6604,129 @@ OMIM:176640 PRNP skos:exactMatch UMLS:C3805618 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C4016337 semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch UMLS:C4016338 semapv:UnspecifiedMatching -OMIM:176640 PRNP skos:exactMatch hgnc:PRNP semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch hgnc.symbol:9449 semapv:UnspecifiedMatching +OMIM:176640 PRNP skos:exactMatch hgnc.symbol:PRNP semapv:UnspecifiedMatching OMIM:176640 PRNP skos:exactMatch ncbigene:5621 semapv:UnspecifiedMatching -OMIM:176705 PHB skos:exactMatch hgnc:PHB1 semapv:UnspecifiedMatching +OMIM:176705 PHB skos:exactMatch hgnc.symbol:8912 semapv:UnspecifiedMatching +OMIM:176705 PHB skos:exactMatch hgnc.symbol:PHB1 semapv:UnspecifiedMatching OMIM:176705 PHB skos:exactMatch ncbigene:5245 semapv:UnspecifiedMatching -OMIM:176710 P4HA1 skos:exactMatch hgnc:P4HA1 semapv:UnspecifiedMatching +OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:8546 semapv:UnspecifiedMatching +OMIM:176710 P4HA1 skos:exactMatch hgnc.symbol:P4HA1 semapv:UnspecifiedMatching OMIM:176710 P4HA1 skos:exactMatch ncbigene:5033 semapv:UnspecifiedMatching -OMIM:176720 PIP skos:exactMatch hgnc:PIP semapv:UnspecifiedMatching +OMIM:176720 PIP skos:exactMatch hgnc.symbol:8993 semapv:UnspecifiedMatching +OMIM:176720 PIP skos:exactMatch hgnc.symbol:PIP semapv:UnspecifiedMatching OMIM:176720 PIP skos:exactMatch ncbigene:5304 semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch UMLS:C0342283 semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch UMLS:C1337112 semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch UMLS:C1852092 semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch UMLS:C3150617 semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching -OMIM:176730 INS skos:exactMatch hgnc:INS semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch hgnc.symbol:6081 semapv:UnspecifiedMatching +OMIM:176730 INS skos:exactMatch hgnc.symbol:INS semapv:UnspecifiedMatching OMIM:176730 INS skos:exactMatch ncbigene:3630 semapv:UnspecifiedMatching -OMIM:176740 PCNA skos:exactMatch hgnc:PCNA semapv:UnspecifiedMatching +OMIM:176740 PCNA skos:exactMatch hgnc.symbol:8729 semapv:UnspecifiedMatching +OMIM:176740 PCNA skos:exactMatch hgnc.symbol:PCNA semapv:UnspecifiedMatching OMIM:176740 PCNA skos:exactMatch ncbigene:5111 semapv:UnspecifiedMatching -OMIM:176741 MKI67 skos:exactMatch hgnc:MKI67 semapv:UnspecifiedMatching +OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:7107 semapv:UnspecifiedMatching +OMIM:176741 MKI67 skos:exactMatch hgnc.symbol:MKI67 semapv:UnspecifiedMatching OMIM:176741 MKI67 skos:exactMatch ncbigene:4288 semapv:UnspecifiedMatching -OMIM:176760 PRL skos:exactMatch hgnc:PRL semapv:UnspecifiedMatching +OMIM:176760 PRL skos:exactMatch hgnc.symbol:9445 semapv:UnspecifiedMatching +OMIM:176760 PRL skos:exactMatch hgnc.symbol:PRL semapv:UnspecifiedMatching OMIM:176760 PRL skos:exactMatch ncbigene:5617 semapv:UnspecifiedMatching -OMIM:176761 PRLR skos:exactMatch hgnc:PRLR semapv:UnspecifiedMatching +OMIM:176761 PRLR skos:exactMatch hgnc.symbol:9446 semapv:UnspecifiedMatching +OMIM:176761 PRLR skos:exactMatch hgnc.symbol:PRLR semapv:UnspecifiedMatching OMIM:176761 PRLR skos:exactMatch ncbigene:5618 semapv:UnspecifiedMatching -OMIM:176763 PRDX1 skos:exactMatch hgnc:PRDX1 semapv:UnspecifiedMatching +OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:9352 semapv:UnspecifiedMatching +OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:PRDX1 semapv:UnspecifiedMatching OMIM:176763 PRDX1 skos:exactMatch ncbigene:5052 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0205990 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C1868686 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C2752090 semapv:UnspecifiedMatching -OMIM:176785 PRCP skos:exactMatch hgnc:PRCP semapv:UnspecifiedMatching +OMIM:176785 PRCP skos:exactMatch hgnc.symbol:9344 semapv:UnspecifiedMatching +OMIM:176785 PRCP skos:exactMatch hgnc.symbol:PRCP semapv:UnspecifiedMatching OMIM:176785 PRCP skos:exactMatch ncbigene:5547 semapv:UnspecifiedMatching -OMIM:176790 P4HB skos:exactMatch hgnc:P4HB semapv:UnspecifiedMatching +OMIM:176790 P4HB skos:exactMatch hgnc.symbol:8548 semapv:UnspecifiedMatching +OMIM:176790 P4HB skos:exactMatch hgnc.symbol:P4HB semapv:UnspecifiedMatching OMIM:176790 P4HB skos:exactMatch ncbigene:5034 semapv:UnspecifiedMatching -OMIM:176793 PMCHL1 skos:exactMatch hgnc:PMCHL1 semapv:UnspecifiedMatching +OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:9110 semapv:UnspecifiedMatching +OMIM:176793 PMCHL1 skos:exactMatch hgnc.symbol:PMCHL1 semapv:UnspecifiedMatching OMIM:176793 PMCHL1 skos:exactMatch ncbigene:5369 semapv:UnspecifiedMatching -OMIM:176794 PMCHL2 skos:exactMatch hgnc:PMCHL2 semapv:UnspecifiedMatching +OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:9111 semapv:UnspecifiedMatching +OMIM:176794 PMCHL2 skos:exactMatch hgnc.symbol:PMCHL2 semapv:UnspecifiedMatching OMIM:176794 PMCHL2 skos:exactMatch ncbigene:5370 semapv:UnspecifiedMatching -OMIM:176795 PMCH skos:exactMatch hgnc:PMCH semapv:UnspecifiedMatching +OMIM:176795 PMCH skos:exactMatch hgnc.symbol:9109 semapv:UnspecifiedMatching +OMIM:176795 PMCH skos:exactMatch hgnc.symbol:PMCH semapv:UnspecifiedMatching OMIM:176795 PMCH skos:exactMatch ncbigene:5367 semapv:UnspecifiedMatching -OMIM:176797 ZBTB16 skos:exactMatch hgnc:ZBTB16 semapv:UnspecifiedMatching +OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:12930 semapv:UnspecifiedMatching +OMIM:176797 ZBTB16 skos:exactMatch hgnc.symbol:ZBTB16 semapv:UnspecifiedMatching OMIM:176797 ZBTB16 skos:exactMatch ncbigene:7704 semapv:UnspecifiedMatching -OMIM:176801 PSAP skos:exactMatch hgnc:PSAP semapv:UnspecifiedMatching +OMIM:176801 PSAP skos:exactMatch hgnc.symbol:9498 semapv:UnspecifiedMatching +OMIM:176801 PSAP skos:exactMatch hgnc.symbol:PSAP semapv:UnspecifiedMatching OMIM:176801 PSAP skos:exactMatch ncbigene:5660 semapv:UnspecifiedMatching -OMIM:176802 PTGER1 skos:exactMatch hgnc:PTGER1 semapv:UnspecifiedMatching +OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:9593 semapv:UnspecifiedMatching +OMIM:176802 PTGER1 skos:exactMatch hgnc.symbol:PTGER1 semapv:UnspecifiedMatching OMIM:176802 PTGER1 skos:exactMatch ncbigene:5731 semapv:UnspecifiedMatching -OMIM:176803 PTGDS skos:exactMatch hgnc:PTGDS semapv:UnspecifiedMatching +OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:9592 semapv:UnspecifiedMatching +OMIM:176803 PTGDS skos:exactMatch hgnc.symbol:PTGDS semapv:UnspecifiedMatching OMIM:176803 PTGDS skos:exactMatch ncbigene:5730 semapv:UnspecifiedMatching -OMIM:176804 PTGER2 skos:exactMatch hgnc:PTGER2 semapv:UnspecifiedMatching +OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:9594 semapv:UnspecifiedMatching +OMIM:176804 PTGER2 skos:exactMatch hgnc.symbol:PTGER2 semapv:UnspecifiedMatching OMIM:176804 PTGER2 skos:exactMatch ncbigene:5732 semapv:UnspecifiedMatching -OMIM:176805 PTGS1 skos:exactMatch hgnc:PTGS1 semapv:UnspecifiedMatching +OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:9604 semapv:UnspecifiedMatching +OMIM:176805 PTGS1 skos:exactMatch hgnc.symbol:PTGS1 semapv:UnspecifiedMatching OMIM:176805 PTGS1 skos:exactMatch ncbigene:5742 semapv:UnspecifiedMatching -OMIM:176806 PTGER3 skos:exactMatch hgnc:PTGER3 semapv:UnspecifiedMatching +OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:9595 semapv:UnspecifiedMatching +OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:PTGER3 semapv:UnspecifiedMatching OMIM:176806 PTGER3 skos:exactMatch ncbigene:5733 semapv:UnspecifiedMatching +OMIM:176807 prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching OMIM:176807 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching -OMIM:176807 prostate cancer skos:exactMatch orphanet.ordo:1331 semapv:UnspecifiedMatching -OMIM:176820 KLK3 skos:exactMatch hgnc:KLK3 semapv:UnspecifiedMatching +OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:6364 semapv:UnspecifiedMatching +OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:KLK3 semapv:UnspecifiedMatching OMIM:176820 KLK3 skos:exactMatch ncbigene:354 semapv:UnspecifiedMatching -OMIM:176830 POMC skos:exactMatch hgnc:POMC semapv:UnspecifiedMatching +OMIM:176830 POMC skos:exactMatch hgnc.symbol:9201 semapv:UnspecifiedMatching +OMIM:176830 POMC skos:exactMatch hgnc.symbol:POMC semapv:UnspecifiedMatching OMIM:176830 POMC skos:exactMatch ncbigene:5443 semapv:UnspecifiedMatching -OMIM:176842 PSMA2 skos:exactMatch hgnc:PSMA2 semapv:UnspecifiedMatching +OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:9531 semapv:UnspecifiedMatching +OMIM:176842 PSMA2 skos:exactMatch hgnc.symbol:PSMA2 semapv:UnspecifiedMatching OMIM:176842 PSMA2 skos:exactMatch ncbigene:5683 semapv:UnspecifiedMatching -OMIM:176843 PSMA3 skos:exactMatch hgnc:PSMA3 semapv:UnspecifiedMatching +OMIM:176843 PSMA3 skos:exactMatch hgnc.symbol:9532 semapv:UnspecifiedMatching +OMIM:176843 PSMA3 skos:exactMatch hgnc.symbol:PSMA3 semapv:UnspecifiedMatching OMIM:176843 PSMA3 skos:exactMatch ncbigene:5684 semapv:UnspecifiedMatching -OMIM:176844 PSMA5 skos:exactMatch hgnc:PSMA5 semapv:UnspecifiedMatching +OMIM:176844 PSMA5 skos:exactMatch hgnc.symbol:9534 semapv:UnspecifiedMatching +OMIM:176844 PSMA5 skos:exactMatch hgnc.symbol:PSMA5 semapv:UnspecifiedMatching OMIM:176844 PSMA5 skos:exactMatch ncbigene:5686 semapv:UnspecifiedMatching -OMIM:176846 PSMA4 skos:exactMatch hgnc:PSMA4 semapv:UnspecifiedMatching +OMIM:176846 PSMA4 skos:exactMatch hgnc.symbol:9533 semapv:UnspecifiedMatching +OMIM:176846 PSMA4 skos:exactMatch hgnc.symbol:PSMA4 semapv:UnspecifiedMatching OMIM:176846 PSMA4 skos:exactMatch ncbigene:5685 semapv:UnspecifiedMatching -OMIM:176847 PSMB10 skos:exactMatch hgnc:PSMB10 semapv:UnspecifiedMatching +OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:9538 semapv:UnspecifiedMatching +OMIM:176847 PSMB10 skos:exactMatch hgnc.symbol:PSMB10 semapv:UnspecifiedMatching OMIM:176847 PSMB10 skos:exactMatch ncbigene:5699 semapv:UnspecifiedMatching -OMIM:176851 PCMT1 skos:exactMatch hgnc:PCMT1 semapv:UnspecifiedMatching +OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:8728 semapv:UnspecifiedMatching +OMIM:176851 PCMT1 skos:exactMatch hgnc.symbol:PCMT1 semapv:UnspecifiedMatching OMIM:176851 PCMT1 skos:exactMatch ncbigene:5110 semapv:UnspecifiedMatching OMIM:176870 AMBP skos:exactMatch UMLS:C0077906 semapv:UnspecifiedMatching OMIM:176870 AMBP skos:exactMatch UMLS:C1412376 semapv:UnspecifiedMatching -OMIM:176870 AMBP skos:exactMatch hgnc:AMBP semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch hgnc.symbol:453 semapv:UnspecifiedMatching +OMIM:176870 AMBP skos:exactMatch hgnc.symbol:AMBP semapv:UnspecifiedMatching OMIM:176870 AMBP skos:exactMatch ncbigene:259 semapv:UnspecifiedMatching OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C1539341 semapv:UnspecifiedMatching OMIM:176871 EIF2AK2 skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching -OMIM:176871 EIF2AK2 skos:exactMatch hgnc:EIF2AK2 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:9437 semapv:UnspecifiedMatching +OMIM:176871 EIF2AK2 skos:exactMatch hgnc.symbol:EIF2AK2 semapv:UnspecifiedMatching OMIM:176871 EIF2AK2 skos:exactMatch ncbigene:5610 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch UMLS:C1334474 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch UMLS:C5394559 semapv:UnspecifiedMatching -OMIM:176872 MAP2K1 skos:exactMatch hgnc:MAP2K1 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:6840 semapv:UnspecifiedMatching +OMIM:176872 MAP2K1 skos:exactMatch hgnc.symbol:MAP2K1 semapv:UnspecifiedMatching OMIM:176872 MAP2K1 skos:exactMatch ncbigene:5604 semapv:UnspecifiedMatching -OMIM:176873 CDK11B skos:exactMatch hgnc:CDK11B semapv:UnspecifiedMatching +OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:1729 semapv:UnspecifiedMatching +OMIM:176873 CDK11B skos:exactMatch hgnc.symbol:CDK11B semapv:UnspecifiedMatching OMIM:176873 CDK11B skos:exactMatch ncbigene:984 semapv:UnspecifiedMatching OMIM:176875 PPP1CA skos:exactMatch UMLS:C1335240 semapv:UnspecifiedMatching -OMIM:176875 PPP1CA skos:exactMatch hgnc:PPP1CA semapv:UnspecifiedMatching +OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:9281 semapv:UnspecifiedMatching +OMIM:176875 PPP1CA skos:exactMatch hgnc.symbol:PPP1CA semapv:UnspecifiedMatching OMIM:176875 PPP1CA skos:exactMatch ncbigene:5499 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C0028326 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C0410530 semapv:UnspecifiedMatching @@ -5018,212 +6734,302 @@ OMIM:176876 PTPN11 skos:exactMatch UMLS:C1335280 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C4016288 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551484 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch UMLS:C4551602 semapv:UnspecifiedMatching -OMIM:176876 PTPN11 skos:exactMatch hgnc:PTPN11 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:9644 semapv:UnspecifiedMatching +OMIM:176876 PTPN11 skos:exactMatch hgnc.symbol:PTPN11 semapv:UnspecifiedMatching OMIM:176876 PTPN11 skos:exactMatch ncbigene:5781 semapv:UnspecifiedMatching -OMIM:176877 PTPN3 skos:exactMatch hgnc:PTPN3 semapv:UnspecifiedMatching +OMIM:176877 PTPN3 skos:exactMatch hgnc.symbol:9655 semapv:UnspecifiedMatching +OMIM:176877 PTPN3 skos:exactMatch hgnc.symbol:PTPN3 semapv:UnspecifiedMatching OMIM:176877 PTPN3 skos:exactMatch ncbigene:5774 semapv:UnspecifiedMatching -OMIM:176878 PTPN4 skos:exactMatch hgnc:PTPN4 semapv:UnspecifiedMatching +OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:9656 semapv:UnspecifiedMatching +OMIM:176878 PTPN4 skos:exactMatch hgnc.symbol:PTPN4 semapv:UnspecifiedMatching OMIM:176878 PTPN4 skos:exactMatch ncbigene:5775 semapv:UnspecifiedMatching -OMIM:176879 PTPN5 skos:exactMatch hgnc:PTPN5 semapv:UnspecifiedMatching +OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:9657 semapv:UnspecifiedMatching +OMIM:176879 PTPN5 skos:exactMatch hgnc.symbol:PTPN5 semapv:UnspecifiedMatching OMIM:176879 PTPN5 skos:exactMatch ncbigene:84867 semapv:UnspecifiedMatching -OMIM:176880 PROS1 skos:exactMatch hgnc:PROS1 semapv:UnspecifiedMatching +OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:9456 semapv:UnspecifiedMatching +OMIM:176880 PROS1 skos:exactMatch hgnc.symbol:PROS1 semapv:UnspecifiedMatching OMIM:176880 PROS1 skos:exactMatch ncbigene:5627 semapv:UnspecifiedMatching -OMIM:176882 PTPRB skos:exactMatch hgnc:PTPRB semapv:UnspecifiedMatching +OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:9665 semapv:UnspecifiedMatching +OMIM:176882 PTPRB skos:exactMatch hgnc.symbol:PTPRB semapv:UnspecifiedMatching OMIM:176882 PTPRB skos:exactMatch ncbigene:5787 semapv:UnspecifiedMatching -OMIM:176883 PTPN6 skos:exactMatch hgnc:PTPN6 semapv:UnspecifiedMatching +OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:9658 semapv:UnspecifiedMatching +OMIM:176883 PTPN6 skos:exactMatch hgnc.symbol:PTPN6 semapv:UnspecifiedMatching OMIM:176883 PTPN6 skos:exactMatch ncbigene:5777 semapv:UnspecifiedMatching -OMIM:176884 PTPRA skos:exactMatch hgnc:PTPRA semapv:UnspecifiedMatching +OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:9664 semapv:UnspecifiedMatching +OMIM:176884 PTPRA skos:exactMatch hgnc.symbol:PTPRA semapv:UnspecifiedMatching OMIM:176884 PTPRA skos:exactMatch ncbigene:5786 semapv:UnspecifiedMatching -OMIM:176885 PTPN1 skos:exactMatch hgnc:PTPN1 semapv:UnspecifiedMatching +OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:9642 semapv:UnspecifiedMatching +OMIM:176885 PTPN1 skos:exactMatch hgnc.symbol:PTPN1 semapv:UnspecifiedMatching OMIM:176885 PTPN1 skos:exactMatch ncbigene:5770 semapv:UnspecifiedMatching -OMIM:176886 PTPRG skos:exactMatch hgnc:PTPRG semapv:UnspecifiedMatching +OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:9671 semapv:UnspecifiedMatching +OMIM:176886 PTPRG skos:exactMatch hgnc.symbol:PTPRG semapv:UnspecifiedMatching OMIM:176886 PTPRG skos:exactMatch ncbigene:5793 semapv:UnspecifiedMatching OMIM:176887 PTPN2 skos:exactMatch UMLS:C1419100 semapv:UnspecifiedMatching -OMIM:176887 PTPN2 skos:exactMatch hgnc:PTPN2 semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:9650 semapv:UnspecifiedMatching +OMIM:176887 PTPN2 skos:exactMatch hgnc.symbol:PTPN2 semapv:UnspecifiedMatching OMIM:176887 PTPN2 skos:exactMatch ncbigene:5771 semapv:UnspecifiedMatching -OMIM:176888 PTPRM skos:exactMatch hgnc:PTPRM semapv:UnspecifiedMatching +OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:9675 semapv:UnspecifiedMatching +OMIM:176888 PTPRM skos:exactMatch hgnc.symbol:PTPRM semapv:UnspecifiedMatching OMIM:176888 PTPRM skos:exactMatch ncbigene:5797 semapv:UnspecifiedMatching -OMIM:176889 PTPN7 skos:exactMatch hgnc:PTPN7 semapv:UnspecifiedMatching +OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:9659 semapv:UnspecifiedMatching +OMIM:176889 PTPN7 skos:exactMatch hgnc.symbol:PTPN7 semapv:UnspecifiedMatching OMIM:176889 PTPN7 skos:exactMatch ncbigene:5778 semapv:UnspecifiedMatching -OMIM:176891 PTPRZ1 skos:exactMatch hgnc:PTPRZ1 semapv:UnspecifiedMatching +OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:9685 semapv:UnspecifiedMatching +OMIM:176891 PTPRZ1 skos:exactMatch hgnc.symbol:PTPRZ1 semapv:UnspecifiedMatching OMIM:176891 PTPRZ1 skos:exactMatch ncbigene:5803 semapv:UnspecifiedMatching OMIM:176892 PRKACB skos:exactMatch UMLS:C1418902 semapv:UnspecifiedMatching OMIM:176892 PRKACB skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching -OMIM:176892 PRKACB skos:exactMatch hgnc:PRKACB semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:9381 semapv:UnspecifiedMatching +OMIM:176892 PRKACB skos:exactMatch hgnc.symbol:PRKACB semapv:UnspecifiedMatching OMIM:176892 PRKACB skos:exactMatch ncbigene:5567 semapv:UnspecifiedMatching -OMIM:176893 PRKACG skos:exactMatch hgnc:PRKACG semapv:UnspecifiedMatching +OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:9382 semapv:UnspecifiedMatching +OMIM:176893 PRKACG skos:exactMatch hgnc.symbol:PRKACG semapv:UnspecifiedMatching OMIM:176893 PRKACG skos:exactMatch ncbigene:5568 semapv:UnspecifiedMatching -OMIM:176894 PRKG1 skos:exactMatch hgnc:PRKG1 semapv:UnspecifiedMatching +OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:9414 semapv:UnspecifiedMatching +OMIM:176894 PRKG1 skos:exactMatch hgnc.symbol:PRKG1 semapv:UnspecifiedMatching OMIM:176894 PRKG1 skos:exactMatch ncbigene:5592 semapv:UnspecifiedMatching -OMIM:176895 PROZ skos:exactMatch hgnc:PROZ semapv:UnspecifiedMatching +OMIM:176895 PROZ skos:exactMatch hgnc.symbol:9460 semapv:UnspecifiedMatching +OMIM:176895 PROZ skos:exactMatch hgnc.symbol:PROZ semapv:UnspecifiedMatching OMIM:176895 PROZ skos:exactMatch ncbigene:8858 semapv:UnspecifiedMatching -OMIM:176910 PRKAR2A skos:exactMatch hgnc:PRKAR2A semapv:UnspecifiedMatching +OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:9391 semapv:UnspecifiedMatching +OMIM:176910 PRKAR2A skos:exactMatch hgnc.symbol:PRKAR2A semapv:UnspecifiedMatching OMIM:176910 PRKAR2A skos:exactMatch ncbigene:5576 semapv:UnspecifiedMatching -OMIM:176911 PRKAR1B skos:exactMatch hgnc:PRKAR1B semapv:UnspecifiedMatching +OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:9390 semapv:UnspecifiedMatching +OMIM:176911 PRKAR1B skos:exactMatch hgnc.symbol:PRKAR1B semapv:UnspecifiedMatching OMIM:176911 PRKAR1B skos:exactMatch ncbigene:5575 semapv:UnspecifiedMatching -OMIM:176912 PRKAR2B skos:exactMatch hgnc:PRKAR2B semapv:UnspecifiedMatching +OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:9392 semapv:UnspecifiedMatching +OMIM:176912 PRKAR2B skos:exactMatch hgnc.symbol:PRKAR2B semapv:UnspecifiedMatching OMIM:176912 PRKAR2B skos:exactMatch ncbigene:5577 semapv:UnspecifiedMatching OMIM:176914 PPP1CC skos:exactMatch UMLS:C1418821 semapv:UnspecifiedMatching -OMIM:176914 PPP1CC skos:exactMatch hgnc:PPP1CC semapv:UnspecifiedMatching +OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:9283 semapv:UnspecifiedMatching +OMIM:176914 PPP1CC skos:exactMatch hgnc.symbol:PPP1CC semapv:UnspecifiedMatching OMIM:176914 PPP1CC skos:exactMatch ncbigene:5501 semapv:UnspecifiedMatching -OMIM:176915 PPP2CA skos:exactMatch hgnc:PPP2CA semapv:UnspecifiedMatching +OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:9299 semapv:UnspecifiedMatching +OMIM:176915 PPP2CA skos:exactMatch hgnc.symbol:PPP2CA semapv:UnspecifiedMatching OMIM:176915 PPP2CA skos:exactMatch ncbigene:5515 semapv:UnspecifiedMatching -OMIM:176916 PPP2CB skos:exactMatch hgnc:PPP2CB semapv:UnspecifiedMatching +OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:9300 semapv:UnspecifiedMatching +OMIM:176916 PPP2CB skos:exactMatch hgnc.symbol:PPP2CB semapv:UnspecifiedMatching OMIM:176916 PPP2CB skos:exactMatch ncbigene:5516 semapv:UnspecifiedMatching -OMIM:176930 F2 skos:exactMatch hgnc:F2 semapv:UnspecifiedMatching +OMIM:176930 F2 skos:exactMatch hgnc.symbol:3535 semapv:UnspecifiedMatching +OMIM:176930 F2 skos:exactMatch hgnc.symbol:F2 semapv:UnspecifiedMatching OMIM:176930 F2 skos:exactMatch ncbigene:2147 semapv:UnspecifiedMatching -OMIM:176940 S100A1 skos:exactMatch hgnc:S100A1 semapv:UnspecifiedMatching +OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:10486 semapv:UnspecifiedMatching +OMIM:176940 S100A1 skos:exactMatch hgnc.symbol:S100A1 semapv:UnspecifiedMatching OMIM:176940 S100A1 skos:exactMatch ncbigene:6271 semapv:UnspecifiedMatching -OMIM:176941 TYK2 skos:exactMatch hgnc:TYK2 semapv:UnspecifiedMatching +OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:12440 semapv:UnspecifiedMatching +OMIM:176941 TYK2 skos:exactMatch hgnc.symbol:TYK2 semapv:UnspecifiedMatching OMIM:176941 TYK2 skos:exactMatch ncbigene:7297 semapv:UnspecifiedMatching -OMIM:176942 FER skos:exactMatch hgnc:FER semapv:UnspecifiedMatching +OMIM:176942 FER skos:exactMatch hgnc.symbol:3655 semapv:UnspecifiedMatching +OMIM:176942 FER skos:exactMatch hgnc.symbol:FER semapv:UnspecifiedMatching OMIM:176942 FER skos:exactMatch ncbigene:2241 semapv:UnspecifiedMatching -OMIM:176943 FGFR2 skos:exactMatch hgnc:FGFR2 semapv:UnspecifiedMatching +OMIM:176943 FGFR2 skos:exactMatch hgnc.symbol:3689 semapv:UnspecifiedMatching +OMIM:176943 FGFR2 skos:exactMatch hgnc.symbol:FGFR2 semapv:UnspecifiedMatching OMIM:176943 FGFR2 skos:exactMatch ncbigene:2263 semapv:UnspecifiedMatching -OMIM:176945 EPHA8 skos:exactMatch hgnc:EPHA8 semapv:UnspecifiedMatching +OMIM:176945 EPHA8 skos:exactMatch hgnc.symbol:3391 semapv:UnspecifiedMatching +OMIM:176945 EPHA8 skos:exactMatch hgnc.symbol:EPHA8 semapv:UnspecifiedMatching OMIM:176945 EPHA8 skos:exactMatch ncbigene:2046 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch UMLS:C1333337 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016347 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016348 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch UMLS:C4016349 semapv:UnspecifiedMatching -OMIM:176946 EPHA2 skos:exactMatch hgnc:EPHA2 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:3386 semapv:UnspecifiedMatching +OMIM:176946 EPHA2 skos:exactMatch hgnc.symbol:EPHA2 semapv:UnspecifiedMatching OMIM:176946 EPHA2 skos:exactMatch ncbigene:1969 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch UMLS:C1421567 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch UMLS:C2931299 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch UMLS:C4310768 semapv:UnspecifiedMatching -OMIM:176947 ZAP70 skos:exactMatch hgnc:ZAP70 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:12858 semapv:UnspecifiedMatching +OMIM:176947 ZAP70 skos:exactMatch hgnc.symbol:ZAP70 semapv:UnspecifiedMatching OMIM:176947 ZAP70 skos:exactMatch ncbigene:7535 semapv:UnspecifiedMatching OMIM:176948 MAPK1 skos:exactMatch UMLS:C1366882 semapv:UnspecifiedMatching OMIM:176948 MAPK1 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching -OMIM:176948 MAPK1 skos:exactMatch hgnc:MAPK1 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:6871 semapv:UnspecifiedMatching +OMIM:176948 MAPK1 skos:exactMatch hgnc.symbol:MAPK1 semapv:UnspecifiedMatching OMIM:176948 MAPK1 skos:exactMatch ncbigene:5594 semapv:UnspecifiedMatching -OMIM:176949 MAPK4 skos:exactMatch hgnc:MAPK4 semapv:UnspecifiedMatching +OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:6878 semapv:UnspecifiedMatching +OMIM:176949 MAPK4 skos:exactMatch hgnc.symbol:MAPK4 semapv:UnspecifiedMatching OMIM:176949 MAPK4 skos:exactMatch ncbigene:5596 semapv:UnspecifiedMatching -OMIM:176960 PRKCA skos:exactMatch hgnc:PRKCA semapv:UnspecifiedMatching +OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:9393 semapv:UnspecifiedMatching +OMIM:176960 PRKCA skos:exactMatch hgnc.symbol:PRKCA semapv:UnspecifiedMatching OMIM:176960 PRKCA skos:exactMatch ncbigene:5578 semapv:UnspecifiedMatching OMIM:176970 PRKCB skos:exactMatch UMLS:C1418913 semapv:UnspecifiedMatching -OMIM:176970 PRKCB skos:exactMatch hgnc:PRKCB semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:9395 semapv:UnspecifiedMatching +OMIM:176970 PRKCB skos:exactMatch hgnc.symbol:PRKCB semapv:UnspecifiedMatching OMIM:176970 PRKCB skos:exactMatch ncbigene:5579 semapv:UnspecifiedMatching -OMIM:176975 PRKCE skos:exactMatch hgnc:PRKCE semapv:UnspecifiedMatching +OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:9401 semapv:UnspecifiedMatching +OMIM:176975 PRKCE skos:exactMatch hgnc.symbol:PRKCE semapv:UnspecifiedMatching OMIM:176975 PRKCE skos:exactMatch ncbigene:5581 semapv:UnspecifiedMatching -OMIM:176977 PRKCD skos:exactMatch hgnc:PRKCD semapv:UnspecifiedMatching +OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:9399 semapv:UnspecifiedMatching +OMIM:176977 PRKCD skos:exactMatch hgnc.symbol:PRKCD semapv:UnspecifiedMatching OMIM:176977 PRKCD skos:exactMatch ncbigene:5580 semapv:UnspecifiedMatching -OMIM:176980 PRKCG skos:exactMatch hgnc:PRKCG semapv:UnspecifiedMatching +OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:9402 semapv:UnspecifiedMatching +OMIM:176980 PRKCG skos:exactMatch hgnc.symbol:PRKCG semapv:UnspecifiedMatching OMIM:176980 PRKCG skos:exactMatch ncbigene:5582 semapv:UnspecifiedMatching -OMIM:176981 RACK1 skos:exactMatch hgnc:RACK1 semapv:UnspecifiedMatching +OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:4399 semapv:UnspecifiedMatching +OMIM:176981 RACK1 skos:exactMatch hgnc.symbol:RACK1 semapv:UnspecifiedMatching OMIM:176981 RACK1 skos:exactMatch ncbigene:10399 semapv:UnspecifiedMatching -OMIM:176982 PRKCZ skos:exactMatch hgnc:PRKCZ semapv:UnspecifiedMatching +OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:9412 semapv:UnspecifiedMatching +OMIM:176982 PRKCZ skos:exactMatch hgnc.symbol:PRKCZ semapv:UnspecifiedMatching OMIM:176982 PRKCZ skos:exactMatch ncbigene:5590 semapv:UnspecifiedMatching -OMIM:176990 S100B skos:exactMatch hgnc:S100B semapv:UnspecifiedMatching +OMIM:176990 S100B skos:exactMatch hgnc.symbol:10500 semapv:UnspecifiedMatching +OMIM:176990 S100B skos:exactMatch hgnc.symbol:S100B semapv:UnspecifiedMatching OMIM:176990 S100B skos:exactMatch ncbigene:6285 semapv:UnspecifiedMatching -OMIM:176991 S100A5 skos:exactMatch hgnc:S100A5 semapv:UnspecifiedMatching +OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:10495 semapv:UnspecifiedMatching +OMIM:176991 S100A5 skos:exactMatch hgnc.symbol:S100A5 semapv:UnspecifiedMatching OMIM:176991 S100A5 skos:exactMatch ncbigene:6276 semapv:UnspecifiedMatching -OMIM:176992 S100A3 skos:exactMatch hgnc:S100A3 semapv:UnspecifiedMatching +OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:10493 semapv:UnspecifiedMatching +OMIM:176992 S100A3 skos:exactMatch hgnc.symbol:S100A3 semapv:UnspecifiedMatching OMIM:176992 S100A3 skos:exactMatch ncbigene:6274 semapv:UnspecifiedMatching -OMIM:176993 S100A2 skos:exactMatch hgnc:S100A2 semapv:UnspecifiedMatching +OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:10492 semapv:UnspecifiedMatching +OMIM:176993 S100A2 skos:exactMatch hgnc.symbol:S100A2 semapv:UnspecifiedMatching OMIM:176993 S100A2 skos:exactMatch ncbigene:6273 semapv:UnspecifiedMatching -OMIM:177010 SERPINE2 skos:exactMatch hgnc:SERPINE2 semapv:UnspecifiedMatching +OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:8951 semapv:UnspecifiedMatching +OMIM:177010 SERPINE2 skos:exactMatch hgnc.symbol:SERPINE2 semapv:UnspecifiedMatching OMIM:177010 SERPINE2 skos:exactMatch ncbigene:5270 semapv:UnspecifiedMatching -OMIM:177015 PSKH1 skos:exactMatch hgnc:PSKH1 semapv:UnspecifiedMatching +OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:9529 semapv:UnspecifiedMatching +OMIM:177015 PSKH1 skos:exactMatch hgnc.symbol:PSKH1 semapv:UnspecifiedMatching OMIM:177015 PSKH1 skos:exactMatch ncbigene:5681 semapv:UnspecifiedMatching -OMIM:177020 PRTN3 skos:exactMatch hgnc:PRTN3 semapv:UnspecifiedMatching +OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:9495 semapv:UnspecifiedMatching +OMIM:177020 PRTN3 skos:exactMatch hgnc.symbol:PRTN3 semapv:UnspecifiedMatching OMIM:177020 PRTN3 skos:exactMatch ncbigene:5657 semapv:UnspecifiedMatching -OMIM:177040 SRGN skos:exactMatch hgnc:SRGN semapv:UnspecifiedMatching +OMIM:177040 SRGN skos:exactMatch hgnc.symbol:9361 semapv:UnspecifiedMatching +OMIM:177040 SRGN skos:exactMatch hgnc.symbol:SRGN semapv:UnspecifiedMatching OMIM:177040 SRGN skos:exactMatch ncbigene:5552 semapv:UnspecifiedMatching -OMIM:177045 PSMB9 skos:exactMatch hgnc:PSMB9 semapv:UnspecifiedMatching +OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:9546 semapv:UnspecifiedMatching +OMIM:177045 PSMB9 skos:exactMatch hgnc.symbol:PSMB9 semapv:UnspecifiedMatching OMIM:177045 PSMB9 skos:exactMatch ncbigene:5698 semapv:UnspecifiedMatching -OMIM:177046 PSMB8 skos:exactMatch hgnc:PSMB8 semapv:UnspecifiedMatching +OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:9545 semapv:UnspecifiedMatching +OMIM:177046 PSMB8 skos:exactMatch hgnc.symbol:PSMB8 semapv:UnspecifiedMatching OMIM:177046 PSMB8 skos:exactMatch ncbigene:5696 semapv:UnspecifiedMatching -OMIM:177060 PRKCSH skos:exactMatch hgnc:PRKCSH semapv:UnspecifiedMatching +OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:9411 semapv:UnspecifiedMatching +OMIM:177060 PRKCSH skos:exactMatch hgnc.symbol:PRKCSH semapv:UnspecifiedMatching OMIM:177060 PRKCSH skos:exactMatch ncbigene:5589 semapv:UnspecifiedMatching -OMIM:177061 MARCKS skos:exactMatch hgnc:MARCKS semapv:UnspecifiedMatching +OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:6759 semapv:UnspecifiedMatching +OMIM:177061 MARCKS skos:exactMatch hgnc.symbol:MARCKS semapv:UnspecifiedMatching OMIM:177061 MARCKS skos:exactMatch ncbigene:4082 semapv:UnspecifiedMatching -OMIM:177070 EPB42 skos:exactMatch hgnc:EPB42 semapv:UnspecifiedMatching +OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:3381 semapv:UnspecifiedMatching +OMIM:177070 EPB42 skos:exactMatch hgnc.symbol:EPB42 semapv:UnspecifiedMatching OMIM:177070 EPB42 skos:exactMatch ncbigene:2038 semapv:UnspecifiedMatching -OMIM:177075 MAF skos:exactMatch hgnc:MAF semapv:UnspecifiedMatching +OMIM:177075 MAF skos:exactMatch hgnc.symbol:6776 semapv:UnspecifiedMatching +OMIM:177075 MAF skos:exactMatch hgnc.symbol:MAF semapv:UnspecifiedMatching OMIM:177075 MAF skos:exactMatch ncbigene:4094 semapv:UnspecifiedMatching -OMIM:177400 BCHE skos:exactMatch hgnc:BCHE semapv:UnspecifiedMatching +OMIM:177400 BCHE skos:exactMatch hgnc.symbol:983 semapv:UnspecifiedMatching +OMIM:177400 BCHE skos:exactMatch hgnc.symbol:BCHE semapv:UnspecifiedMatching OMIM:177400 BCHE skos:exactMatch ncbigene:590 semapv:UnspecifiedMatching OMIM:177900 psoriasis 1, susceptibility to skos:exactMatch UMLS:C1867449 semapv:UnspecifiedMatching +OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch Orphanet:65743 semapv:UnspecifiedMatching OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching -OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch orphanet.ordo:65743 semapv:UnspecifiedMatching -OMIM:178620 SFTPC skos:exactMatch hgnc:SFTPC semapv:UnspecifiedMatching +OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:10802 semapv:UnspecifiedMatching +OMIM:178620 SFTPC skos:exactMatch hgnc.symbol:SFTPC semapv:UnspecifiedMatching OMIM:178620 SFTPC skos:exactMatch ncbigene:6440 semapv:UnspecifiedMatching -OMIM:178630 SFTPA1 skos:exactMatch hgnc:SFTPA1 semapv:UnspecifiedMatching +OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:10798 semapv:UnspecifiedMatching +OMIM:178630 SFTPA1 skos:exactMatch hgnc.symbol:SFTPA1 semapv:UnspecifiedMatching OMIM:178630 SFTPA1 skos:exactMatch ncbigene:653509 semapv:UnspecifiedMatching -OMIM:178635 SFTPD skos:exactMatch hgnc:SFTPD semapv:UnspecifiedMatching +OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:10803 semapv:UnspecifiedMatching +OMIM:178635 SFTPD skos:exactMatch hgnc.symbol:SFTPD semapv:UnspecifiedMatching OMIM:178635 SFTPD skos:exactMatch ncbigene:6441 semapv:UnspecifiedMatching -OMIM:178640 SFTPB skos:exactMatch hgnc:SFTPB semapv:UnspecifiedMatching +OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:10801 semapv:UnspecifiedMatching +OMIM:178640 SFTPB skos:exactMatch hgnc.symbol:SFTPB semapv:UnspecifiedMatching OMIM:178640 SFTPB skos:exactMatch ncbigene:6439 semapv:UnspecifiedMatching -OMIM:178642 SFTPA2 skos:exactMatch hgnc:SFTPA2 semapv:UnspecifiedMatching +OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:10799 semapv:UnspecifiedMatching +OMIM:178642 SFTPA2 skos:exactMatch hgnc.symbol:SFTPA2 semapv:UnspecifiedMatching OMIM:178642 SFTPA2 skos:exactMatch ncbigene:729238 semapv:UnspecifiedMatching -OMIM:178990 MMP7 skos:exactMatch hgnc:MMP7 semapv:UnspecifiedMatching +OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:7174 semapv:UnspecifiedMatching +OMIM:178990 MMP7 skos:exactMatch hgnc.symbol:MMP7 semapv:UnspecifiedMatching OMIM:178990 MMP7 skos:exactMatch ncbigene:4316 semapv:UnspecifiedMatching -OMIM:179020 PDXK skos:exactMatch hgnc:PDXK semapv:UnspecifiedMatching +OMIM:179020 PDXK skos:exactMatch hgnc.symbol:8819 semapv:UnspecifiedMatching +OMIM:179020 PDXK skos:exactMatch hgnc.symbol:PDXK semapv:UnspecifiedMatching OMIM:179020 PDXK skos:exactMatch ncbigene:8566 semapv:UnspecifiedMatching -OMIM:179030 PPA1 skos:exactMatch hgnc:PPA1 semapv:UnspecifiedMatching +OMIM:179030 PPA1 skos:exactMatch hgnc.symbol:9226 semapv:UnspecifiedMatching +OMIM:179030 PPA1 skos:exactMatch hgnc.symbol:PPA1 semapv:UnspecifiedMatching OMIM:179030 PPA1 skos:exactMatch ncbigene:5464 semapv:UnspecifiedMatching -OMIM:179035 PYCR1 skos:exactMatch hgnc:PYCR1 semapv:UnspecifiedMatching +OMIM:179035 PYCR1 skos:exactMatch hgnc.symbol:9721 semapv:UnspecifiedMatching +OMIM:179035 PYCR1 skos:exactMatch hgnc.symbol:PYCR1 semapv:UnspecifiedMatching OMIM:179035 PYCR1 skos:exactMatch ncbigene:5831 semapv:UnspecifiedMatching -OMIM:179050 PKM skos:exactMatch hgnc:PKM semapv:UnspecifiedMatching +OMIM:179050 PKM skos:exactMatch hgnc.symbol:9021 semapv:UnspecifiedMatching +OMIM:179050 PKM skos:exactMatch hgnc.symbol:PKM semapv:UnspecifiedMatching OMIM:179050 PKM skos:exactMatch ncbigene:5315 semapv:UnspecifiedMatching OMIM:179060 PDHB skos:exactMatch UMLS:C1418439 semapv:UnspecifiedMatching OMIM:179060 PDHB skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching -OMIM:179060 PDHB skos:exactMatch hgnc:PDHB semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch hgnc.symbol:8808 semapv:UnspecifiedMatching +OMIM:179060 PDHB skos:exactMatch hgnc.symbol:PDHB semapv:UnspecifiedMatching OMIM:179060 PDHB skos:exactMatch ncbigene:5162 semapv:UnspecifiedMatching -OMIM:179061 PDHA2 skos:exactMatch hgnc:PDHA2 semapv:UnspecifiedMatching +OMIM:179061 PDHA2 skos:exactMatch hgnc.symbol:8807 semapv:UnspecifiedMatching +OMIM:179061 PDHA2 skos:exactMatch hgnc.symbol:PDHA2 semapv:UnspecifiedMatching OMIM:179061 PDHA2 skos:exactMatch ncbigene:5161 semapv:UnspecifiedMatching -OMIM:179080 RABGGTB skos:exactMatch hgnc:RABGGTB semapv:UnspecifiedMatching +OMIM:179080 RABGGTB skos:exactMatch hgnc.symbol:9796 semapv:UnspecifiedMatching +OMIM:179080 RABGGTB skos:exactMatch hgnc.symbol:RABGGTB semapv:UnspecifiedMatching OMIM:179080 RABGGTB skos:exactMatch ncbigene:5876 semapv:UnspecifiedMatching -OMIM:179095 UBE2B skos:exactMatch hgnc:UBE2B semapv:UnspecifiedMatching +OMIM:179095 UBE2B skos:exactMatch hgnc.symbol:12473 semapv:UnspecifiedMatching +OMIM:179095 UBE2B skos:exactMatch hgnc.symbol:UBE2B semapv:UnspecifiedMatching OMIM:179095 UBE2B skos:exactMatch ncbigene:7320 semapv:UnspecifiedMatching +OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch Orphanet:3269 semapv:UnspecifiedMatching OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching -OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to skos:exactMatch orphanet.ordo:3269 semapv:UnspecifiedMatching -OMIM:179410 RDX skos:exactMatch hgnc:RDX semapv:UnspecifiedMatching +OMIM:179410 RDX skos:exactMatch hgnc.symbol:9944 semapv:UnspecifiedMatching +OMIM:179410 RDX skos:exactMatch hgnc.symbol:RDX semapv:UnspecifiedMatching OMIM:179410 RDX skos:exactMatch ncbigene:5962 semapv:UnspecifiedMatching -OMIM:179490 RAB3A skos:exactMatch hgnc:RAB3A semapv:UnspecifiedMatching +OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:9777 semapv:UnspecifiedMatching +OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:RAB3A semapv:UnspecifiedMatching OMIM:179490 RAB3A skos:exactMatch ncbigene:5864 semapv:UnspecifiedMatching -OMIM:179502 RAP1GDS1 skos:exactMatch hgnc:RAP1GDS1 semapv:UnspecifiedMatching +OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:9859 semapv:UnspecifiedMatching +OMIM:179502 RAP1GDS1 skos:exactMatch hgnc.symbol:RAP1GDS1 semapv:UnspecifiedMatching OMIM:179502 RAP1GDS1 skos:exactMatch ncbigene:5910 semapv:UnspecifiedMatching OMIM:179503 RRAD skos:exactMatch UMLS:C0919455 semapv:UnspecifiedMatching OMIM:179503 RRAD skos:exactMatch UMLS:C1867391 semapv:UnspecifiedMatching -OMIM:179503 RRAD skos:exactMatch hgnc:RRAD semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch hgnc.symbol:10446 semapv:UnspecifiedMatching +OMIM:179503 RRAD skos:exactMatch hgnc.symbol:RRAD semapv:UnspecifiedMatching OMIM:179503 RRAD skos:exactMatch ncbigene:6236 semapv:UnspecifiedMatching OMIM:179505 RHOG skos:exactMatch UMLS:C1412519 semapv:UnspecifiedMatching -OMIM:179505 RHOG skos:exactMatch hgnc:RHOG semapv:UnspecifiedMatching +OMIM:179505 RHOG skos:exactMatch hgnc.symbol:672 semapv:UnspecifiedMatching +OMIM:179505 RHOG skos:exactMatch hgnc.symbol:RHOG semapv:UnspecifiedMatching OMIM:179505 RHOG skos:exactMatch ncbigene:391 semapv:UnspecifiedMatching -OMIM:179508 RAB1 skos:exactMatch hgnc:RAB1A semapv:UnspecifiedMatching +OMIM:179508 RAB1 skos:exactMatch hgnc.symbol:9758 semapv:UnspecifiedMatching +OMIM:179508 RAB1 skos:exactMatch hgnc.symbol:RAB1A semapv:UnspecifiedMatching OMIM:179508 RAB1 skos:exactMatch ncbigene:5861 semapv:UnspecifiedMatching -OMIM:179509 RAB2 skos:exactMatch hgnc:RAB2A semapv:UnspecifiedMatching +OMIM:179509 RAB2 skos:exactMatch hgnc.symbol:9763 semapv:UnspecifiedMatching +OMIM:179509 RAB2 skos:exactMatch hgnc.symbol:RAB2A semapv:UnspecifiedMatching OMIM:179509 RAB2 skos:exactMatch ncbigene:5862 semapv:UnspecifiedMatching -OMIM:179510 RAB3B skos:exactMatch hgnc:RAB3B semapv:UnspecifiedMatching +OMIM:179510 RAB3B skos:exactMatch hgnc.symbol:9778 semapv:UnspecifiedMatching +OMIM:179510 RAB3B skos:exactMatch hgnc.symbol:RAB3B semapv:UnspecifiedMatching OMIM:179510 RAB3B skos:exactMatch ncbigene:5865 semapv:UnspecifiedMatching -OMIM:179511 RAB4A skos:exactMatch hgnc:RAB4A semapv:UnspecifiedMatching +OMIM:179511 RAB4A skos:exactMatch hgnc.symbol:9781 semapv:UnspecifiedMatching +OMIM:179511 RAB4A skos:exactMatch hgnc.symbol:RAB4A semapv:UnspecifiedMatching OMIM:179511 RAB4A skos:exactMatch ncbigene:5867 semapv:UnspecifiedMatching -OMIM:179512 RAB5A skos:exactMatch hgnc:RAB5A semapv:UnspecifiedMatching +OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:9783 semapv:UnspecifiedMatching +OMIM:179512 RAB5A skos:exactMatch hgnc.symbol:RAB5A semapv:UnspecifiedMatching OMIM:179512 RAB5A skos:exactMatch ncbigene:5868 semapv:UnspecifiedMatching -OMIM:179513 RAB6A skos:exactMatch hgnc:RAB6A semapv:UnspecifiedMatching +OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:9786 semapv:UnspecifiedMatching +OMIM:179513 RAB6A skos:exactMatch hgnc.symbol:RAB6A semapv:UnspecifiedMatching OMIM:179513 RAB6A skos:exactMatch ncbigene:5870 semapv:UnspecifiedMatching -OMIM:179514 RAB5B skos:exactMatch hgnc:RAB5B semapv:UnspecifiedMatching +OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:9784 semapv:UnspecifiedMatching +OMIM:179514 RAB5B skos:exactMatch hgnc.symbol:RAB5B semapv:UnspecifiedMatching OMIM:179514 RAB5B skos:exactMatch ncbigene:5869 semapv:UnspecifiedMatching -OMIM:179520 RAP1A skos:exactMatch hgnc:RAP1A semapv:UnspecifiedMatching +OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:9855 semapv:UnspecifiedMatching +OMIM:179520 RAP1A skos:exactMatch hgnc.symbol:RAP1A semapv:UnspecifiedMatching OMIM:179520 RAP1A skos:exactMatch ncbigene:5906 semapv:UnspecifiedMatching -OMIM:179530 RAP1B skos:exactMatch hgnc:RAP1B semapv:UnspecifiedMatching +OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:9857 semapv:UnspecifiedMatching +OMIM:179530 RAP1B skos:exactMatch hgnc.symbol:RAP1B semapv:UnspecifiedMatching OMIM:179530 RAP1B skos:exactMatch ncbigene:5908 semapv:UnspecifiedMatching OMIM:179540 RAP2A skos:exactMatch UMLS:C1419269 semapv:UnspecifiedMatching -OMIM:179540 RAP2A skos:exactMatch hgnc:RAP2A semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:9861 semapv:UnspecifiedMatching +OMIM:179540 RAP2A skos:exactMatch hgnc.symbol:RAP2A semapv:UnspecifiedMatching OMIM:179540 RAP2A skos:exactMatch ncbigene:5911 semapv:UnspecifiedMatching OMIM:179541 RAP2B skos:exactMatch UMLS:C1419270 semapv:UnspecifiedMatching -OMIM:179541 RAP2B skos:exactMatch hgnc:RAP2B semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:9862 semapv:UnspecifiedMatching +OMIM:179541 RAP2B skos:exactMatch hgnc.symbol:RAP2B semapv:UnspecifiedMatching OMIM:179541 RAP2B skos:exactMatch ncbigene:5912 semapv:UnspecifiedMatching OMIM:179550 RALA skos:exactMatch UMLS:C0812284 semapv:UnspecifiedMatching -OMIM:179550 RALA skos:exactMatch hgnc:RALA semapv:UnspecifiedMatching +OMIM:179550 RALA skos:exactMatch hgnc.symbol:9839 semapv:UnspecifiedMatching +OMIM:179550 RALA skos:exactMatch hgnc.symbol:RALA semapv:UnspecifiedMatching OMIM:179550 RALA skos:exactMatch ncbigene:5898 semapv:UnspecifiedMatching -OMIM:179551 RALB skos:exactMatch hgnc:RALB semapv:UnspecifiedMatching +OMIM:179551 RALB skos:exactMatch hgnc.symbol:9840 semapv:UnspecifiedMatching +OMIM:179551 RALB skos:exactMatch hgnc.symbol:RALB semapv:UnspecifiedMatching OMIM:179551 RALB skos:exactMatch ncbigene:5899 semapv:UnspecifiedMatching -OMIM:179555 RSU1 skos:exactMatch hgnc:RSU1 semapv:UnspecifiedMatching +OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:10464 semapv:UnspecifiedMatching +OMIM:179555 RSU1 skos:exactMatch hgnc.symbol:RSU1 semapv:UnspecifiedMatching OMIM:179555 RSU1 skos:exactMatch ncbigene:6251 semapv:UnspecifiedMatching -OMIM:179590 PTPRF skos:exactMatch hgnc:PTPRF semapv:UnspecifiedMatching +OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:9670 semapv:UnspecifiedMatching +OMIM:179590 PTPRF skos:exactMatch hgnc.symbol:PTPRF semapv:UnspecifiedMatching OMIM:179590 PTPRF skos:exactMatch ncbigene:5792 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C1826711 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C1842475 semapv:UnspecifiedMatching @@ -5233,250 +7039,348 @@ OMIM:179605 PRPH2 skos:exactMatch UMLS:C2751290 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C4013102 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C4016358 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch UMLS:C4551999 semapv:UnspecifiedMatching -OMIM:179605 PRPH2 skos:exactMatch hgnc:PRPH2 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:9942 semapv:UnspecifiedMatching +OMIM:179605 PRPH2 skos:exactMatch hgnc.symbol:PRPH2 semapv:UnspecifiedMatching OMIM:179605 PRPH2 skos:exactMatch ncbigene:5961 semapv:UnspecifiedMatching -OMIM:179610 EPHA1 skos:exactMatch hgnc:EPHA1 semapv:UnspecifiedMatching +OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:3385 semapv:UnspecifiedMatching +OMIM:179610 EPHA1 skos:exactMatch hgnc.symbol:EPHA1 semapv:UnspecifiedMatching OMIM:179610 EPHA1 skos:exactMatch ncbigene:2041 semapv:UnspecifiedMatching -OMIM:179611 EPHA3 skos:exactMatch hgnc:EPHA3 semapv:UnspecifiedMatching +OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:3387 semapv:UnspecifiedMatching +OMIM:179611 EPHA3 skos:exactMatch hgnc.symbol:EPHA3 semapv:UnspecifiedMatching OMIM:179611 EPHA3 skos:exactMatch ncbigene:2042 semapv:UnspecifiedMatching +OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch Orphanet:96167 semapv:UnspecifiedMatching OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch UMLS:C0795822 semapv:UnspecifiedMatching -OMIM:179613 recombinant chromosome 8 syndrome skos:exactMatch orphanet.ordo:96167 semapv:UnspecifiedMatching -OMIM:179615 RAG1 skos:exactMatch hgnc:RAG1 semapv:UnspecifiedMatching +OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:9831 semapv:UnspecifiedMatching +OMIM:179615 RAG1 skos:exactMatch hgnc.symbol:RAG1 semapv:UnspecifiedMatching OMIM:179615 RAG1 skos:exactMatch ncbigene:5896 semapv:UnspecifiedMatching -OMIM:179616 RAG2 skos:exactMatch hgnc:RAG2 semapv:UnspecifiedMatching +OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:9832 semapv:UnspecifiedMatching +OMIM:179616 RAG2 skos:exactMatch hgnc.symbol:RAG2 semapv:UnspecifiedMatching OMIM:179616 RAG2 skos:exactMatch ncbigene:5897 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C1419240 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C3281089 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C4016360 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching -OMIM:179617 RAD51 skos:exactMatch hgnc:RAD51 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:9817 semapv:UnspecifiedMatching +OMIM:179617 RAD51 skos:exactMatch hgnc.symbol:RAD51 semapv:UnspecifiedMatching OMIM:179617 RAD51 skos:exactMatch ncbigene:5888 semapv:UnspecifiedMatching OMIM:179618 RCVRN skos:exactMatch UMLS:C1419326 semapv:UnspecifiedMatching -OMIM:179618 RCVRN skos:exactMatch hgnc:RCVRN semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:9937 semapv:UnspecifiedMatching +OMIM:179618 RCVRN skos:exactMatch hgnc.symbol:RCVRN semapv:UnspecifiedMatching OMIM:179618 RCVRN skos:exactMatch ncbigene:5957 semapv:UnspecifiedMatching -OMIM:179710 RCC1 skos:exactMatch hgnc:RCC1 semapv:UnspecifiedMatching +OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:1913 semapv:UnspecifiedMatching +OMIM:179710 RCC1 skos:exactMatch hgnc.symbol:RCC1 semapv:UnspecifiedMatching OMIM:179710 RCC1 skos:exactMatch ncbigene:1104 semapv:UnspecifiedMatching -OMIM:179730 RLN1 skos:exactMatch hgnc:RLN1 semapv:UnspecifiedMatching +OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:10026 semapv:UnspecifiedMatching +OMIM:179730 RLN1 skos:exactMatch hgnc.symbol:RLN1 semapv:UnspecifiedMatching OMIM:179730 RLN1 skos:exactMatch ncbigene:6013 semapv:UnspecifiedMatching -OMIM:179740 RLN2 skos:exactMatch hgnc:RLN2 semapv:UnspecifiedMatching +OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:10027 semapv:UnspecifiedMatching +OMIM:179740 RLN2 skos:exactMatch hgnc.symbol:RLN2 semapv:UnspecifiedMatching OMIM:179740 RLN2 skos:exactMatch ncbigene:6019 semapv:UnspecifiedMatching -OMIM:179755 PRCC skos:exactMatch hgnc:PRCC semapv:UnspecifiedMatching +OMIM:179755 PRCC skos:exactMatch hgnc.symbol:9343 semapv:UnspecifiedMatching +OMIM:179755 PRCC skos:exactMatch hgnc.symbol:PRCC semapv:UnspecifiedMatching OMIM:179755 PRCC skos:exactMatch ncbigene:5546 semapv:UnspecifiedMatching -OMIM:179780 DPEP1 skos:exactMatch hgnc:DPEP1 semapv:UnspecifiedMatching +OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:3002 semapv:UnspecifiedMatching +OMIM:179780 DPEP1 skos:exactMatch hgnc.symbol:DPEP1 semapv:UnspecifiedMatching OMIM:179780 DPEP1 skos:exactMatch ncbigene:1800 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch Orphanet:93608 semapv:UnspecifiedMatching OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch orphanet.ordo:18 semapv:UnspecifiedMatching -OMIM:179800 renal tubular acidosis, distal, 1 skos:exactMatch orphanet.ordo:93608 semapv:UnspecifiedMatching -OMIM:179820 REN skos:exactMatch hgnc:REN semapv:UnspecifiedMatching +OMIM:179820 REN skos:exactMatch hgnc.symbol:9958 semapv:UnspecifiedMatching +OMIM:179820 REN skos:exactMatch hgnc.symbol:REN semapv:UnspecifiedMatching OMIM:179820 REN skos:exactMatch ncbigene:5972 semapv:UnspecifiedMatching -OMIM:179835 RPA1 skos:exactMatch hgnc:RPA1 semapv:UnspecifiedMatching +OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:10289 semapv:UnspecifiedMatching +OMIM:179835 RPA1 skos:exactMatch hgnc.symbol:RPA1 semapv:UnspecifiedMatching OMIM:179835 RPA1 skos:exactMatch ncbigene:6117 semapv:UnspecifiedMatching -OMIM:179836 RPA2 skos:exactMatch hgnc:RPA2 semapv:UnspecifiedMatching +OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:10290 semapv:UnspecifiedMatching +OMIM:179836 RPA2 skos:exactMatch hgnc.symbol:RPA2 semapv:UnspecifiedMatching OMIM:179836 RPA2 skos:exactMatch ncbigene:6118 semapv:UnspecifiedMatching -OMIM:179837 RPA3 skos:exactMatch hgnc:RPA3 semapv:UnspecifiedMatching +OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:10291 semapv:UnspecifiedMatching +OMIM:179837 RPA3 skos:exactMatch hgnc.symbol:RPA3 semapv:UnspecifiedMatching OMIM:179837 RPA3 skos:exactMatch ncbigene:6119 semapv:UnspecifiedMatching -OMIM:179838 CLIP1 skos:exactMatch hgnc:CLIP1 semapv:UnspecifiedMatching +OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:10461 semapv:UnspecifiedMatching +OMIM:179838 CLIP1 skos:exactMatch hgnc.symbol:CLIP1 semapv:UnspecifiedMatching OMIM:179838 CLIP1 skos:exactMatch ncbigene:6249 semapv:UnspecifiedMatching -OMIM:180040 RD3 skos:exactMatch hgnc:RD3 semapv:UnspecifiedMatching +OMIM:180040 RD3 skos:exactMatch hgnc.symbol:19689 semapv:UnspecifiedMatching +OMIM:180040 RD3 skos:exactMatch hgnc.symbol:RD3 semapv:UnspecifiedMatching OMIM:180040 RD3 skos:exactMatch ncbigene:343035 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C1419622 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C1859844 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C3151086 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching -OMIM:180069 RPE65 skos:exactMatch hgnc:RPE65 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch hgnc.symbol:10294 semapv:UnspecifiedMatching +OMIM:180069 RPE65 skos:exactMatch hgnc.symbol:RPE65 semapv:UnspecifiedMatching OMIM:180069 RPE65 skos:exactMatch ncbigene:6121 semapv:UnspecifiedMatching OMIM:180071 PDE6A skos:exactMatch UMLS:C1418425 semapv:UnspecifiedMatching OMIM:180071 PDE6A skos:exactMatch UMLS:C3151139 semapv:UnspecifiedMatching -OMIM:180071 PDE6A skos:exactMatch hgnc:PDE6A semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch hgnc.symbol:8785 semapv:UnspecifiedMatching +OMIM:180071 PDE6A skos:exactMatch hgnc.symbol:PDE6A semapv:UnspecifiedMatching OMIM:180071 PDE6A skos:exactMatch ncbigene:5145 semapv:UnspecifiedMatching OMIM:180072 PDE6B skos:exactMatch UMLS:C1418426 semapv:UnspecifiedMatching OMIM:180072 PDE6B skos:exactMatch UMLS:C1876182 semapv:UnspecifiedMatching OMIM:180072 PDE6B skos:exactMatch UMLS:C3151107 semapv:UnspecifiedMatching -OMIM:180072 PDE6B skos:exactMatch hgnc:PDE6B semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch hgnc.symbol:8786 semapv:UnspecifiedMatching +OMIM:180072 PDE6B skos:exactMatch hgnc.symbol:PDE6B semapv:UnspecifiedMatching OMIM:180072 PDE6B skos:exactMatch ncbigene:5158 semapv:UnspecifiedMatching OMIM:180073 PDE6G skos:exactMatch UMLS:C1418429 semapv:UnspecifiedMatching OMIM:180073 PDE6G skos:exactMatch UMLS:C3150821 semapv:UnspecifiedMatching -OMIM:180073 PDE6G skos:exactMatch hgnc:PDE6G semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch hgnc.symbol:8789 semapv:UnspecifiedMatching +OMIM:180073 PDE6G skos:exactMatch hgnc.symbol:PDE6G semapv:UnspecifiedMatching OMIM:180073 PDE6G skos:exactMatch ncbigene:5148 semapv:UnspecifiedMatching -OMIM:180090 RLBP1 skos:exactMatch hgnc:RLBP1 semapv:UnspecifiedMatching +OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:10024 semapv:UnspecifiedMatching +OMIM:180090 RLBP1 skos:exactMatch hgnc.symbol:RLBP1 semapv:UnspecifiedMatching OMIM:180090 RLBP1 skos:exactMatch ncbigene:6017 semapv:UnspecifiedMatching -OMIM:180190 RARG skos:exactMatch hgnc:RARG semapv:UnspecifiedMatching +OMIM:180190 RARG skos:exactMatch hgnc.symbol:9866 semapv:UnspecifiedMatching +OMIM:180190 RARG skos:exactMatch hgnc.symbol:RARG semapv:UnspecifiedMatching OMIM:180190 RARG skos:exactMatch ncbigene:5916 semapv:UnspecifiedMatching -OMIM:180201 ARID4A skos:exactMatch hgnc:ARID4A semapv:UnspecifiedMatching +OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:9885 semapv:UnspecifiedMatching +OMIM:180201 ARID4A skos:exactMatch hgnc.symbol:ARID4A semapv:UnspecifiedMatching OMIM:180201 ARID4A skos:exactMatch ncbigene:5926 semapv:UnspecifiedMatching -OMIM:180202 KDM5A skos:exactMatch hgnc:KDM5A semapv:UnspecifiedMatching +OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:9886 semapv:UnspecifiedMatching +OMIM:180202 KDM5A skos:exactMatch hgnc.symbol:KDM5A semapv:UnspecifiedMatching OMIM:180202 KDM5A skos:exactMatch ncbigene:5927 semapv:UnspecifiedMatching -OMIM:180203 RBL2 skos:exactMatch hgnc:RBL2 semapv:UnspecifiedMatching +OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:9894 semapv:UnspecifiedMatching +OMIM:180203 RBL2 skos:exactMatch hgnc.symbol:RBL2 semapv:UnspecifiedMatching OMIM:180203 RBL2 skos:exactMatch ncbigene:5934 semapv:UnspecifiedMatching +OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch UMLS:C1867261 semapv:UnspecifiedMatching -OMIM:180210 retinopathy, pericentral pigmentary, dominant skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching -OMIM:180220 RARB skos:exactMatch hgnc:RARB semapv:UnspecifiedMatching +OMIM:180220 RARB skos:exactMatch hgnc.symbol:9865 semapv:UnspecifiedMatching +OMIM:180220 RARB skos:exactMatch hgnc.symbol:RARB semapv:UnspecifiedMatching OMIM:180220 RARB skos:exactMatch ncbigene:5915 semapv:UnspecifiedMatching -OMIM:180230 CRABP1 skos:exactMatch hgnc:CRABP1 semapv:UnspecifiedMatching +OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:2338 semapv:UnspecifiedMatching +OMIM:180230 CRABP1 skos:exactMatch hgnc.symbol:CRABP1 semapv:UnspecifiedMatching OMIM:180230 CRABP1 skos:exactMatch ncbigene:1381 semapv:UnspecifiedMatching -OMIM:180231 CRABP2 skos:exactMatch hgnc:CRABP2 semapv:UnspecifiedMatching +OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:2339 semapv:UnspecifiedMatching +OMIM:180231 CRABP2 skos:exactMatch hgnc.symbol:CRABP2 semapv:UnspecifiedMatching OMIM:180231 CRABP2 skos:exactMatch ncbigene:1382 semapv:UnspecifiedMatching OMIM:180240 RARA skos:exactMatch UMLS:C1366536 semapv:UnspecifiedMatching OMIM:180240 RARA skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:180240 RARA skos:exactMatch hgnc:RARA semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch hgnc.symbol:9864 semapv:UnspecifiedMatching +OMIM:180240 RARA skos:exactMatch hgnc.symbol:RARA semapv:UnspecifiedMatching OMIM:180240 RARA skos:exactMatch ncbigene:5914 semapv:UnspecifiedMatching -OMIM:180245 RXRA skos:exactMatch hgnc:RXRA semapv:UnspecifiedMatching +OMIM:180245 RXRA skos:exactMatch hgnc.symbol:10477 semapv:UnspecifiedMatching +OMIM:180245 RXRA skos:exactMatch hgnc.symbol:RXRA semapv:UnspecifiedMatching OMIM:180245 RXRA skos:exactMatch ncbigene:6256 semapv:UnspecifiedMatching -OMIM:180246 RXRB skos:exactMatch hgnc:RXRB semapv:UnspecifiedMatching +OMIM:180246 RXRB skos:exactMatch hgnc.symbol:10478 semapv:UnspecifiedMatching +OMIM:180246 RXRB skos:exactMatch hgnc.symbol:RXRB semapv:UnspecifiedMatching OMIM:180246 RXRB skos:exactMatch ncbigene:6257 semapv:UnspecifiedMatching -OMIM:180247 RXRG skos:exactMatch hgnc:RXRG semapv:UnspecifiedMatching +OMIM:180247 RXRG skos:exactMatch hgnc.symbol:10479 semapv:UnspecifiedMatching +OMIM:180247 RXRG skos:exactMatch hgnc.symbol:RXRG semapv:UnspecifiedMatching OMIM:180247 RXRG skos:exactMatch ncbigene:6258 semapv:UnspecifiedMatching -OMIM:180250 RBP4 skos:exactMatch hgnc:RBP4 semapv:UnspecifiedMatching +OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:9922 semapv:UnspecifiedMatching +OMIM:180250 RBP4 skos:exactMatch hgnc.symbol:RBP4 semapv:UnspecifiedMatching OMIM:180250 RBP4 skos:exactMatch ncbigene:5950 semapv:UnspecifiedMatching -OMIM:180260 RBP1 skos:exactMatch hgnc:RBP1 semapv:UnspecifiedMatching +OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:9919 semapv:UnspecifiedMatching +OMIM:180260 RBP1 skos:exactMatch hgnc.symbol:RBP1 semapv:UnspecifiedMatching OMIM:180260 RBP1 skos:exactMatch ncbigene:5947 semapv:UnspecifiedMatching -OMIM:180280 RBP2 skos:exactMatch hgnc:RBP2 semapv:UnspecifiedMatching +OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:9920 semapv:UnspecifiedMatching +OMIM:180280 RBP2 skos:exactMatch hgnc.symbol:RBP2 semapv:UnspecifiedMatching OMIM:180280 RBP2 skos:exactMatch ncbigene:5948 semapv:UnspecifiedMatching -OMIM:180290 RBP3 skos:exactMatch hgnc:RBP3 semapv:UnspecifiedMatching +OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:9921 semapv:UnspecifiedMatching +OMIM:180290 RBP3 skos:exactMatch hgnc.symbol:RBP3 semapv:UnspecifiedMatching OMIM:180290 RBP3 skos:exactMatch ncbigene:5949 semapv:UnspecifiedMatching -OMIM:180297 RHAG skos:exactMatch hgnc:RHAG semapv:UnspecifiedMatching +OMIM:180297 RHAG skos:exactMatch hgnc.symbol:10006 semapv:UnspecifiedMatching +OMIM:180297 RHAG skos:exactMatch hgnc.symbol:RHAG semapv:UnspecifiedMatching OMIM:180297 RHAG skos:exactMatch ncbigene:6005 semapv:UnspecifiedMatching OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C0003873 semapv:UnspecifiedMatching OMIM:180300 rheumatoid arthritis skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching -OMIM:180370 TST skos:exactMatch hgnc:TST semapv:UnspecifiedMatching +OMIM:180370 TST skos:exactMatch hgnc.symbol:12388 semapv:UnspecifiedMatching +OMIM:180370 TST skos:exactMatch hgnc.symbol:TST semapv:UnspecifiedMatching OMIM:180370 TST skos:exactMatch ncbigene:7263 semapv:UnspecifiedMatching -OMIM:180380 RHO skos:exactMatch hgnc:RHO semapv:UnspecifiedMatching +OMIM:180380 RHO skos:exactMatch hgnc.symbol:10012 semapv:UnspecifiedMatching +OMIM:180380 RHO skos:exactMatch hgnc.symbol:RHO semapv:UnspecifiedMatching OMIM:180380 RHO skos:exactMatch ncbigene:6010 semapv:UnspecifiedMatching -OMIM:180381 GRK1 skos:exactMatch hgnc:GRK1 semapv:UnspecifiedMatching +OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:10013 semapv:UnspecifiedMatching +OMIM:180381 GRK1 skos:exactMatch hgnc.symbol:GRK1 semapv:UnspecifiedMatching OMIM:180381 GRK1 skos:exactMatch ncbigene:6011 semapv:UnspecifiedMatching -OMIM:180385 LMO2 skos:exactMatch hgnc:LMO2 semapv:UnspecifiedMatching +OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:6642 semapv:UnspecifiedMatching +OMIM:180385 LMO2 skos:exactMatch hgnc.symbol:LMO2 semapv:UnspecifiedMatching OMIM:180385 LMO2 skos:exactMatch ncbigene:4005 semapv:UnspecifiedMatching -OMIM:180386 LMO3 skos:exactMatch hgnc:LMO3 semapv:UnspecifiedMatching +OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:6643 semapv:UnspecifiedMatching +OMIM:180386 LMO3 skos:exactMatch hgnc.symbol:LMO3 semapv:UnspecifiedMatching OMIM:180386 LMO3 skos:exactMatch ncbigene:55885 semapv:UnspecifiedMatching OMIM:180390 RRM2 skos:exactMatch UMLS:C1335649 semapv:UnspecifiedMatching -OMIM:180390 RRM2 skos:exactMatch hgnc:RRM2 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:10452 semapv:UnspecifiedMatching +OMIM:180390 RRM2 skos:exactMatch hgnc.symbol:RRM2 semapv:UnspecifiedMatching OMIM:180390 RRM2 skos:exactMatch ncbigene:6241 semapv:UnspecifiedMatching OMIM:180410 RRM1 skos:exactMatch UMLS:C1335648 semapv:UnspecifiedMatching -OMIM:180410 RRM1 skos:exactMatch hgnc:RRM1 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:10451 semapv:UnspecifiedMatching +OMIM:180410 RRM1 skos:exactMatch hgnc.symbol:RRM1 semapv:UnspecifiedMatching OMIM:180410 RRM1 skos:exactMatch ncbigene:6240 semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch UMLS:C1291609 semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch UMLS:C1419625 semapv:UnspecifiedMatching -OMIM:180430 RPIA skos:exactMatch hgnc:RPIA semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch hgnc.symbol:10297 semapv:UnspecifiedMatching +OMIM:180430 RPIA skos:exactMatch hgnc.symbol:RPIA semapv:UnspecifiedMatching OMIM:180430 RPIA skos:exactMatch ncbigene:22934 semapv:UnspecifiedMatching -OMIM:180435 RNASEL skos:exactMatch hgnc:RNASEL semapv:UnspecifiedMatching +OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:10050 semapv:UnspecifiedMatching +OMIM:180435 RNASEL skos:exactMatch hgnc.symbol:RNASEL semapv:UnspecifiedMatching OMIM:180435 RNASEL skos:exactMatch ncbigene:6041 semapv:UnspecifiedMatching -OMIM:180440 RNASE1 skos:exactMatch hgnc:RNASE1 semapv:UnspecifiedMatching +OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:10044 semapv:UnspecifiedMatching +OMIM:180440 RNASE1 skos:exactMatch hgnc.symbol:RNASE1 semapv:UnspecifiedMatching OMIM:180440 RNASE1 skos:exactMatch ncbigene:6035 semapv:UnspecifiedMatching -OMIM:180450 RNR1 skos:exactMatch hgnc:RNR1 semapv:UnspecifiedMatching +OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:10082 semapv:UnspecifiedMatching +OMIM:180450 RNR1 skos:exactMatch hgnc.symbol:RNR1 semapv:UnspecifiedMatching OMIM:180450 RNR1 skos:exactMatch ncbigene:6052 semapv:UnspecifiedMatching -OMIM:180451 RNR2 skos:exactMatch hgnc:RNR2 semapv:UnspecifiedMatching +OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:10083 semapv:UnspecifiedMatching +OMIM:180451 RNR2 skos:exactMatch hgnc.symbol:RNR2 semapv:UnspecifiedMatching OMIM:180451 RNR2 skos:exactMatch ncbigene:6053 semapv:UnspecifiedMatching -OMIM:180452 RNR3 skos:exactMatch hgnc:RNR3 semapv:UnspecifiedMatching +OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:10084 semapv:UnspecifiedMatching +OMIM:180452 RNR3 skos:exactMatch hgnc.symbol:RNR3 semapv:UnspecifiedMatching OMIM:180452 RNR3 skos:exactMatch ncbigene:6054 semapv:UnspecifiedMatching -OMIM:180453 RNR4 skos:exactMatch hgnc:RNR4 semapv:UnspecifiedMatching +OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:10085 semapv:UnspecifiedMatching +OMIM:180453 RNR4 skos:exactMatch hgnc.symbol:RNR4 semapv:UnspecifiedMatching OMIM:180453 RNR4 skos:exactMatch ncbigene:6055 semapv:UnspecifiedMatching -OMIM:180454 RNR5 skos:exactMatch hgnc:RNR5 semapv:UnspecifiedMatching +OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:10086 semapv:UnspecifiedMatching +OMIM:180454 RNR5 skos:exactMatch hgnc.symbol:RNR5 semapv:UnspecifiedMatching OMIM:180454 RNR5 skos:exactMatch ncbigene:6056 semapv:UnspecifiedMatching -OMIM:180460 RPS6 skos:exactMatch hgnc:RPS6 semapv:UnspecifiedMatching +OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:10429 semapv:UnspecifiedMatching +OMIM:180460 RPS6 skos:exactMatch hgnc.symbol:RPS6 semapv:UnspecifiedMatching OMIM:180460 RPS6 skos:exactMatch ncbigene:6194 semapv:UnspecifiedMatching -OMIM:180463 RPS20A skos:exactMatch hgnc:RPS20P3 semapv:UnspecifiedMatching +OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:10406 semapv:UnspecifiedMatching +OMIM:180463 RPS20A skos:exactMatch hgnc.symbol:RPS20P3 semapv:UnspecifiedMatching OMIM:180463 RPS20A skos:exactMatch ncbigene:6225 semapv:UnspecifiedMatching -OMIM:180464 RPS20B skos:exactMatch hgnc:RPS20P4 semapv:UnspecifiedMatching +OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:10407 semapv:UnspecifiedMatching +OMIM:180464 RPS20B skos:exactMatch hgnc.symbol:RPS20P4 semapv:UnspecifiedMatching OMIM:180464 RPS20B skos:exactMatch ncbigene:6226 semapv:UnspecifiedMatching -OMIM:180465 RPS25 skos:exactMatch hgnc:RPS25 semapv:UnspecifiedMatching +OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:10413 semapv:UnspecifiedMatching +OMIM:180465 RPS25 skos:exactMatch hgnc.symbol:RPS25 semapv:UnspecifiedMatching OMIM:180465 RPS25 skos:exactMatch ncbigene:6230 semapv:UnspecifiedMatching -OMIM:180466 RPL19 skos:exactMatch hgnc:RPL19 semapv:UnspecifiedMatching +OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:10312 semapv:UnspecifiedMatching +OMIM:180466 RPL19 skos:exactMatch hgnc.symbol:RPL19 semapv:UnspecifiedMatching OMIM:180466 RPL19 skos:exactMatch ncbigene:6143 semapv:UnspecifiedMatching -OMIM:180467 RPL30 skos:exactMatch hgnc:RPL30 semapv:UnspecifiedMatching +OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:10333 semapv:UnspecifiedMatching +OMIM:180467 RPL30 skos:exactMatch hgnc.symbol:RPL30 semapv:UnspecifiedMatching OMIM:180467 RPL30 skos:exactMatch ncbigene:6156 semapv:UnspecifiedMatching -OMIM:180468 RPL35A skos:exactMatch hgnc:RPL35A semapv:UnspecifiedMatching +OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:10345 semapv:UnspecifiedMatching +OMIM:180468 RPL35A skos:exactMatch hgnc.symbol:RPL35A semapv:UnspecifiedMatching OMIM:180468 RPL35A skos:exactMatch ncbigene:6165 semapv:UnspecifiedMatching -OMIM:180469 RPL36AL skos:exactMatch hgnc:RPL36AL semapv:UnspecifiedMatching +OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:10346 semapv:UnspecifiedMatching +OMIM:180469 RPL36AL skos:exactMatch hgnc.symbol:RPL36AL semapv:UnspecifiedMatching OMIM:180469 RPL36AL skos:exactMatch ncbigene:6166 semapv:UnspecifiedMatching OMIM:180470 RPN1 skos:exactMatch UMLS:C1419697 semapv:UnspecifiedMatching -OMIM:180470 RPN1 skos:exactMatch hgnc:RPN1 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:10381 semapv:UnspecifiedMatching +OMIM:180470 RPN1 skos:exactMatch hgnc.symbol:RPN1 semapv:UnspecifiedMatching OMIM:180470 RPN1 skos:exactMatch ncbigene:6184 semapv:UnspecifiedMatching -OMIM:180471 RPS11 skos:exactMatch hgnc:RPS11 semapv:UnspecifiedMatching +OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:10384 semapv:UnspecifiedMatching +OMIM:180471 RPS11 skos:exactMatch hgnc.symbol:RPS11 semapv:UnspecifiedMatching OMIM:180471 RPS11 skos:exactMatch ncbigene:6205 semapv:UnspecifiedMatching -OMIM:180472 RPS17 skos:exactMatch hgnc:RPS17 semapv:UnspecifiedMatching +OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:10397 semapv:UnspecifiedMatching +OMIM:180472 RPS17 skos:exactMatch hgnc.symbol:RPS17 semapv:UnspecifiedMatching OMIM:180472 RPS17 skos:exactMatch ncbigene:6218 semapv:UnspecifiedMatching -OMIM:180473 RPS18 skos:exactMatch hgnc:RPS18 semapv:UnspecifiedMatching +OMIM:180473 RPS18 skos:exactMatch hgnc.symbol:10401 semapv:UnspecifiedMatching +OMIM:180473 RPS18 skos:exactMatch hgnc.symbol:RPS18 semapv:UnspecifiedMatching OMIM:180473 RPS18 skos:exactMatch ncbigene:6222 semapv:UnspecifiedMatching -OMIM:180474 RPL22 skos:exactMatch hgnc:RPL22 semapv:UnspecifiedMatching +OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:10315 semapv:UnspecifiedMatching +OMIM:180474 RPL22 skos:exactMatch hgnc.symbol:RPL22 semapv:UnspecifiedMatching OMIM:180474 RPL22 skos:exactMatch ncbigene:6146 semapv:UnspecifiedMatching -OMIM:180475 RPL12 skos:exactMatch hgnc:RPL12 semapv:UnspecifiedMatching +OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:10302 semapv:UnspecifiedMatching +OMIM:180475 RPL12 skos:exactMatch hgnc.symbol:RPL12 semapv:UnspecifiedMatching OMIM:180475 RPL12 skos:exactMatch ncbigene:6136 semapv:UnspecifiedMatching -OMIM:180476 RPS13 skos:exactMatch hgnc:RPS13 semapv:UnspecifiedMatching +OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:10386 semapv:UnspecifiedMatching +OMIM:180476 RPS13 skos:exactMatch hgnc.symbol:RPS13 semapv:UnspecifiedMatching OMIM:180476 RPS13 skos:exactMatch ncbigene:6207 semapv:UnspecifiedMatching -OMIM:180477 RPS21 skos:exactMatch hgnc:RPS21 semapv:UnspecifiedMatching +OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:10409 semapv:UnspecifiedMatching +OMIM:180477 RPS21 skos:exactMatch hgnc.symbol:RPS21 semapv:UnspecifiedMatching OMIM:180477 RPS21 skos:exactMatch ncbigene:6227 semapv:UnspecifiedMatching -OMIM:180478 RPS3A skos:exactMatch hgnc:RPS3A semapv:UnspecifiedMatching +OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:10421 semapv:UnspecifiedMatching +OMIM:180478 RPS3A skos:exactMatch hgnc.symbol:RPS3A semapv:UnspecifiedMatching OMIM:180478 RPS3A skos:exactMatch ncbigene:6189 semapv:UnspecifiedMatching -OMIM:180479 RPL4 skos:exactMatch hgnc:RPL4 semapv:UnspecifiedMatching +OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:10353 semapv:UnspecifiedMatching +OMIM:180479 RPL4 skos:exactMatch hgnc.symbol:RPL4 semapv:UnspecifiedMatching OMIM:180479 RPL4 skos:exactMatch ncbigene:6124 semapv:UnspecifiedMatching -OMIM:180480 RPE skos:exactMatch hgnc:RPE semapv:UnspecifiedMatching +OMIM:180480 RPE skos:exactMatch hgnc.symbol:10293 semapv:UnspecifiedMatching +OMIM:180480 RPE skos:exactMatch hgnc.symbol:RPE semapv:UnspecifiedMatching OMIM:180480 RPE skos:exactMatch ncbigene:6120 semapv:UnspecifiedMatching -OMIM:180490 RPN2 skos:exactMatch hgnc:RPN2 semapv:UnspecifiedMatching +OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:10382 semapv:UnspecifiedMatching +OMIM:180490 RPN2 skos:exactMatch hgnc.symbol:RPN2 semapv:UnspecifiedMatching OMIM:180490 RPN2 skos:exactMatch ncbigene:6185 semapv:UnspecifiedMatching -OMIM:180510 RPLP0 skos:exactMatch hgnc:RPLP0 semapv:UnspecifiedMatching +OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:10371 semapv:UnspecifiedMatching +OMIM:180510 RPLP0 skos:exactMatch hgnc.symbol:RPLP0 semapv:UnspecifiedMatching OMIM:180510 RPLP0 skos:exactMatch ncbigene:6175 semapv:UnspecifiedMatching -OMIM:180520 RPLP1 skos:exactMatch hgnc:RPLP1 semapv:UnspecifiedMatching +OMIM:180520 RPLP1 skos:exactMatch hgnc.symbol:10372 semapv:UnspecifiedMatching +OMIM:180520 RPLP1 skos:exactMatch hgnc.symbol:RPLP1 semapv:UnspecifiedMatching OMIM:180520 RPLP1 skos:exactMatch ncbigene:6176 semapv:UnspecifiedMatching -OMIM:180530 RPLP2 skos:exactMatch hgnc:RPLP2 semapv:UnspecifiedMatching +OMIM:180530 RPLP2 skos:exactMatch hgnc.symbol:10377 semapv:UnspecifiedMatching +OMIM:180530 RPLP2 skos:exactMatch hgnc.symbol:RPLP2 semapv:UnspecifiedMatching OMIM:180530 RPLP2 skos:exactMatch ncbigene:6181 semapv:UnspecifiedMatching -OMIM:180535 RPS15 skos:exactMatch hgnc:RPS15 semapv:UnspecifiedMatching +OMIM:180535 RPS15 skos:exactMatch hgnc.symbol:10388 semapv:UnspecifiedMatching +OMIM:180535 RPS15 skos:exactMatch hgnc.symbol:RPS15 semapv:UnspecifiedMatching OMIM:180535 RPS15 skos:exactMatch ncbigene:6209 semapv:UnspecifiedMatching +OMIM:180550 ring dermoid of cornea skos:exactMatch Orphanet:91481 semapv:UnspecifiedMatching OMIM:180550 ring dermoid of cornea skos:exactMatch UMLS:C1867155 semapv:UnspecifiedMatching -OMIM:180550 ring dermoid of cornea skos:exactMatch orphanet.ordo:91481 semapv:UnspecifiedMatching -OMIM:180610 RLF skos:exactMatch hgnc:RLF semapv:UnspecifiedMatching +OMIM:180610 RLF skos:exactMatch hgnc.symbol:10025 semapv:UnspecifiedMatching +OMIM:180610 RLF skos:exactMatch hgnc.symbol:RLF semapv:UnspecifiedMatching OMIM:180610 RLF skos:exactMatch ncbigene:6018 semapv:UnspecifiedMatching -OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc:TRX-CAT2-1 semapv:UnspecifiedMatching +OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc.symbol:12322 semapv:UnspecifiedMatching +OMIM:180620 TRX-CAT2-1 skos:exactMatch hgnc.symbol:TRX-CAT2-1 semapv:UnspecifiedMatching OMIM:180620 TRX-CAT2-1 skos:exactMatch ncbigene:7212 semapv:UnspecifiedMatching -OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc:TRX-CAT1-2 semapv:UnspecifiedMatching +OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:12318 semapv:UnspecifiedMatching +OMIM:180621 TRX-CAT1-2 skos:exactMatch hgnc.symbol:TRX-CAT1-2 semapv:UnspecifiedMatching OMIM:180621 TRX-CAT1-2 skos:exactMatch ncbigene:7210 semapv:UnspecifiedMatching OMIM:180630 DDX5 skos:exactMatch UMLS:C1413963 semapv:UnspecifiedMatching -OMIM:180630 DDX5 skos:exactMatch hgnc:DDX5 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:2746 semapv:UnspecifiedMatching +OMIM:180630 DDX5 skos:exactMatch hgnc.symbol:DDX5 semapv:UnspecifiedMatching OMIM:180630 DDX5 skos:exactMatch ncbigene:1655 semapv:UnspecifiedMatching OMIM:180640 TRE-TTC3-1 skos:exactMatch UMLS:C1421113 semapv:UnspecifiedMatching -OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc:TRE-TTC3-1 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:12265 semapv:UnspecifiedMatching +OMIM:180640 TRE-TTC3-1 skos:exactMatch hgnc.symbol:TRE-TTC3-1 semapv:UnspecifiedMatching OMIM:180640 TRE-TTC3-1 skos:exactMatch ncbigene:7193 semapv:UnspecifiedMatching -OMIM:180645 SNORA73A skos:exactMatch hgnc:SNORA73A semapv:UnspecifiedMatching +OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:10115 semapv:UnspecifiedMatching +OMIM:180645 SNORA73A skos:exactMatch hgnc.symbol:SNORA73A semapv:UnspecifiedMatching OMIM:180645 SNORA73A skos:exactMatch ncbigene:6080 semapv:UnspecifiedMatching -OMIM:180646 SNORA62 skos:exactMatch hgnc:SNORA62 semapv:UnspecifiedMatching +OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:10107 semapv:UnspecifiedMatching +OMIM:180646 SNORA62 skos:exactMatch hgnc.symbol:SNORA62 semapv:UnspecifiedMatching OMIM:180646 SNORA62 skos:exactMatch ncbigene:6044 semapv:UnspecifiedMatching -OMIM:180647 SNORA63 skos:exactMatch hgnc:SNORA63 semapv:UnspecifiedMatching +OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:10106 semapv:UnspecifiedMatching +OMIM:180647 SNORA63 skos:exactMatch hgnc.symbol:SNORA63 semapv:UnspecifiedMatching OMIM:180647 SNORA63 skos:exactMatch ncbigene:6043 semapv:UnspecifiedMatching OMIM:180660 POLR2A skos:exactMatch UMLS:C1335231 semapv:UnspecifiedMatching OMIM:180660 POLR2A skos:exactMatch UMLS:C5231423 semapv:UnspecifiedMatching -OMIM:180660 POLR2A skos:exactMatch hgnc:POLR2A semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:9187 semapv:UnspecifiedMatching +OMIM:180660 POLR2A skos:exactMatch hgnc.symbol:POLR2A semapv:UnspecifiedMatching OMIM:180660 POLR2A skos:exactMatch ncbigene:5430 semapv:UnspecifiedMatching -OMIM:180661 POLR2B skos:exactMatch hgnc:POLR2B semapv:UnspecifiedMatching +OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:9188 semapv:UnspecifiedMatching +OMIM:180661 POLR2B skos:exactMatch hgnc.symbol:POLR2B semapv:UnspecifiedMatching OMIM:180661 POLR2B skos:exactMatch ncbigene:5431 semapv:UnspecifiedMatching -OMIM:180662 POLR2I skos:exactMatch hgnc:POLR2I semapv:UnspecifiedMatching +OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:9196 semapv:UnspecifiedMatching +OMIM:180662 POLR2I skos:exactMatch hgnc.symbol:POLR2I semapv:UnspecifiedMatching OMIM:180662 POLR2I skos:exactMatch ncbigene:5438 semapv:UnspecifiedMatching -OMIM:180663 POLR2C skos:exactMatch hgnc:POLR2C semapv:UnspecifiedMatching +OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:9189 semapv:UnspecifiedMatching +OMIM:180663 POLR2C skos:exactMatch hgnc.symbol:POLR2C semapv:UnspecifiedMatching OMIM:180663 POLR2C skos:exactMatch ncbigene:5432 semapv:UnspecifiedMatching -OMIM:180664 POLR2E skos:exactMatch hgnc:POLR2E semapv:UnspecifiedMatching +OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:9192 semapv:UnspecifiedMatching +OMIM:180664 POLR2E skos:exactMatch hgnc.symbol:POLR2E semapv:UnspecifiedMatching OMIM:180664 POLR2E skos:exactMatch ncbigene:5434 semapv:UnspecifiedMatching OMIM:180680 RNU1A skos:exactMatch UMLS:C1419475 semapv:UnspecifiedMatching -OMIM:180680 RNU1A skos:exactMatch hgnc:RNU1-4 semapv:UnspecifiedMatching +OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:10128 semapv:UnspecifiedMatching +OMIM:180680 RNU1A skos:exactMatch hgnc.symbol:RNU1-4 semapv:UnspecifiedMatching OMIM:180680 RNU1A skos:exactMatch ncbigene:6060 semapv:UnspecifiedMatching -OMIM:180690 RNU2-1 skos:exactMatch hgnc:RNU2-1 semapv:UnspecifiedMatching +OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:10142 semapv:UnspecifiedMatching +OMIM:180690 RNU2-1 skos:exactMatch hgnc.symbol:RNU2-1 semapv:UnspecifiedMatching OMIM:180690 RNU2-1 skos:exactMatch ncbigene:6066 semapv:UnspecifiedMatching -OMIM:180691 RNU5A-1 skos:exactMatch hgnc:RNU5A-1 semapv:UnspecifiedMatching +OMIM:180691 RNU5A-1 skos:exactMatch hgnc.symbol:10211 semapv:UnspecifiedMatching +OMIM:180691 RNU5A-1 skos:exactMatch hgnc.symbol:RNU5A-1 semapv:UnspecifiedMatching OMIM:180691 RNU5A-1 skos:exactMatch ncbigene:26831 semapv:UnspecifiedMatching OMIM:180692 RNU6-1 skos:exactMatch UMLS:C1419574 semapv:UnspecifiedMatching -OMIM:180692 RNU6-1 skos:exactMatch hgnc:RNU6-1 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:10227 semapv:UnspecifiedMatching +OMIM:180692 RNU6-1 skos:exactMatch hgnc.symbol:RNU6-1 semapv:UnspecifiedMatching OMIM:180692 RNU6-1 skos:exactMatch ncbigene:26827 semapv:UnspecifiedMatching -OMIM:180710 SNORD3A skos:exactMatch hgnc:SNORD3A semapv:UnspecifiedMatching +OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:33189 semapv:UnspecifiedMatching +OMIM:180710 SNORD3A skos:exactMatch hgnc.symbol:SNORD3A semapv:UnspecifiedMatching OMIM:180710 SNORD3A skos:exactMatch ncbigene:780851 semapv:UnspecifiedMatching -OMIM:180721 ROM1 skos:exactMatch hgnc:ROM1 semapv:UnspecifiedMatching +OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:10254 semapv:UnspecifiedMatching +OMIM:180721 ROM1 skos:exactMatch hgnc.symbol:ROM1 semapv:UnspecifiedMatching OMIM:180721 ROM1 skos:exactMatch ncbigene:6094 semapv:UnspecifiedMatching OMIM:180740 SNRNP70 skos:exactMatch UMLS:C1420282 semapv:UnspecifiedMatching -OMIM:180740 SNRNP70 skos:exactMatch hgnc:SNRNP70 semapv:UnspecifiedMatching +OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:11150 semapv:UnspecifiedMatching +OMIM:180740 SNRNP70 skos:exactMatch hgnc.symbol:SNRNP70 semapv:UnspecifiedMatching OMIM:180740 SNRNP70 skos:exactMatch ncbigene:6625 semapv:UnspecifiedMatching +OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch Orphanet:3115 semapv:UnspecifiedMatching OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching -OMIM:180800 roussy-levy hereditary areflexic dystasia skos:exactMatch orphanet.ordo:3115 semapv:UnspecifiedMatching +OMIM:180860 silver-russell syndrome 1 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C0175693 semapv:UnspecifiedMatching OMIM:180860 silver-russell syndrome 1 skos:exactMatch UMLS:C5393125 semapv:UnspecifiedMatching -OMIM:180860 silver-russell syndrome 1 skos:exactMatch orphanet.ordo:813 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C1419778 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C1840365 semapv:UnspecifiedMatching @@ -5484,133 +7388,190 @@ OMIM:180901 RYR1 skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C2930980 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch UMLS:C4016368 semapv:UnspecifiedMatching -OMIM:180901 RYR1 skos:exactMatch hgnc:RYR1 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch hgnc.symbol:10483 semapv:UnspecifiedMatching +OMIM:180901 RYR1 skos:exactMatch hgnc.symbol:RYR1 semapv:UnspecifiedMatching OMIM:180901 RYR1 skos:exactMatch ncbigene:6261 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch UMLS:C1419779 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch UMLS:C1832931 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch UMLS:C4016369 semapv:UnspecifiedMatching -OMIM:180902 RYR2 skos:exactMatch hgnc:RYR2 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:10484 semapv:UnspecifiedMatching +OMIM:180902 RYR2 skos:exactMatch hgnc.symbol:RYR2 semapv:UnspecifiedMatching OMIM:180902 RYR2 skos:exactMatch ncbigene:6262 semapv:UnspecifiedMatching -OMIM:180903 RYR3 skos:exactMatch hgnc:RYR3 semapv:UnspecifiedMatching +OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:10485 semapv:UnspecifiedMatching +OMIM:180903 RYR3 skos:exactMatch hgnc.symbol:RYR3 semapv:UnspecifiedMatching OMIM:180903 RYR3 skos:exactMatch ncbigene:6263 semapv:UnspecifiedMatching OMIM:180950 salivary substance, clostridium botulinum iia skos:exactMatch UMLS:C1867056 semapv:UnspecifiedMatching -OMIM:180960 AHCY skos:exactMatch hgnc:AHCY semapv:UnspecifiedMatching +OMIM:180960 AHCY skos:exactMatch hgnc.symbol:343 semapv:UnspecifiedMatching +OMIM:180960 AHCY skos:exactMatch hgnc.symbol:AHCY semapv:UnspecifiedMatching OMIM:180960 AHCY skos:exactMatch ncbigene:191 semapv:UnspecifiedMatching -OMIM:180980 AMD1 skos:exactMatch hgnc:AMD1 semapv:UnspecifiedMatching +OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:457 semapv:UnspecifiedMatching +OMIM:180980 AMD1 skos:exactMatch hgnc.symbol:AMD1 semapv:UnspecifiedMatching OMIM:180980 AMD1 skos:exactMatch ncbigene:262 semapv:UnspecifiedMatching -OMIM:180989 PRB1 skos:exactMatch hgnc:PRB1 semapv:UnspecifiedMatching +OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:9337 semapv:UnspecifiedMatching +OMIM:180989 PRB1 skos:exactMatch hgnc.symbol:PRB1 semapv:UnspecifiedMatching OMIM:180989 PRB1 skos:exactMatch ncbigene:5542 semapv:UnspecifiedMatching -OMIM:180990 PRB4 skos:exactMatch hgnc:PRB4 semapv:UnspecifiedMatching +OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:9340 semapv:UnspecifiedMatching +OMIM:180990 PRB4 skos:exactMatch hgnc.symbol:PRB4 semapv:UnspecifiedMatching OMIM:180990 PRB4 skos:exactMatch ncbigene:5545 semapv:UnspecifiedMatching -OMIM:181031 SAG skos:exactMatch hgnc:SAG semapv:UnspecifiedMatching +OMIM:181031 SAG skos:exactMatch hgnc.symbol:10521 semapv:UnspecifiedMatching +OMIM:181031 SAG skos:exactMatch hgnc.symbol:SAG semapv:UnspecifiedMatching OMIM:181031 SAG skos:exactMatch ncbigene:6295 semapv:UnspecifiedMatching -OMIM:181035 TSPAN31 skos:exactMatch hgnc:TSPAN31 semapv:UnspecifiedMatching +OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:10539 semapv:UnspecifiedMatching +OMIM:181035 TSPAN31 skos:exactMatch hgnc.symbol:TSPAN31 semapv:UnspecifiedMatching OMIM:181035 TSPAN31 skos:exactMatch ncbigene:6302 semapv:UnspecifiedMatching OMIM:181500 schizophrenia skos:exactMatch UMLS:C0036341 semapv:UnspecifiedMatching OMIM:181500 schizophrenia skos:exactMatch UMLS:C4538533 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch UMLS:C1420065 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching -OMIM:181590 STIL skos:exactMatch hgnc:STIL semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch hgnc.symbol:10879 semapv:UnspecifiedMatching +OMIM:181590 STIL skos:exactMatch hgnc.symbol:STIL semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch ncbigene:6491 semapv:UnspecifiedMatching OMIM:182090 SSAV1 skos:exactMatch ncbigene:6739 semapv:UnspecifiedMatching -OMIM:182098 SCTR skos:exactMatch hgnc:SCTR semapv:UnspecifiedMatching +OMIM:182098 SCTR skos:exactMatch hgnc.symbol:10608 semapv:UnspecifiedMatching +OMIM:182098 SCTR skos:exactMatch hgnc.symbol:SCTR semapv:UnspecifiedMatching OMIM:182098 SCTR skos:exactMatch ncbigene:6344 semapv:UnspecifiedMatching -OMIM:182099 SCT skos:exactMatch hgnc:SCT semapv:UnspecifiedMatching +OMIM:182099 SCT skos:exactMatch hgnc.symbol:10607 semapv:UnspecifiedMatching +OMIM:182099 SCT skos:exactMatch hgnc.symbol:SCT semapv:UnspecifiedMatching OMIM:182099 SCT skos:exactMatch ncbigene:6343 semapv:UnspecifiedMatching -OMIM:182100 FUT2 skos:exactMatch hgnc:FUT2 semapv:UnspecifiedMatching +OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:4013 semapv:UnspecifiedMatching +OMIM:182100 FUT2 skos:exactMatch hgnc.symbol:FUT2 semapv:UnspecifiedMatching OMIM:182100 FUT2 skos:exactMatch ncbigene:2524 semapv:UnspecifiedMatching -OMIM:182115 CYTH1 skos:exactMatch hgnc:CYTH1 semapv:UnspecifiedMatching +OMIM:182115 CYTH1 skos:exactMatch hgnc.symbol:9501 semapv:UnspecifiedMatching +OMIM:182115 CYTH1 skos:exactMatch hgnc.symbol:CYTH1 semapv:UnspecifiedMatching OMIM:182115 CYTH1 skos:exactMatch ncbigene:9267 semapv:UnspecifiedMatching -OMIM:182120 SPARC skos:exactMatch hgnc:SPARC semapv:UnspecifiedMatching +OMIM:182120 SPARC skos:exactMatch hgnc.symbol:11219 semapv:UnspecifiedMatching +OMIM:182120 SPARC skos:exactMatch hgnc.symbol:SPARC semapv:UnspecifiedMatching OMIM:182120 SPARC skos:exactMatch ncbigene:6678 semapv:UnspecifiedMatching -OMIM:182125 SPR skos:exactMatch hgnc:SPR semapv:UnspecifiedMatching +OMIM:182125 SPR skos:exactMatch hgnc.symbol:11257 semapv:UnspecifiedMatching +OMIM:182125 SPR skos:exactMatch hgnc.symbol:SPR semapv:UnspecifiedMatching OMIM:182125 SPR skos:exactMatch ncbigene:6697 semapv:UnspecifiedMatching -OMIM:182128 SDS skos:exactMatch hgnc:SDS semapv:UnspecifiedMatching +OMIM:182128 SDS skos:exactMatch hgnc.symbol:10691 semapv:UnspecifiedMatching +OMIM:182128 SDS skos:exactMatch hgnc.symbol:SDS semapv:UnspecifiedMatching OMIM:182128 SDS skos:exactMatch ncbigene:10993 semapv:UnspecifiedMatching -OMIM:182131 HTR1B skos:exactMatch hgnc:HTR1B semapv:UnspecifiedMatching +OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:5287 semapv:UnspecifiedMatching +OMIM:182131 HTR1B skos:exactMatch hgnc.symbol:HTR1B semapv:UnspecifiedMatching OMIM:182131 HTR1B skos:exactMatch ncbigene:3351 semapv:UnspecifiedMatching -OMIM:182132 HTR1E skos:exactMatch hgnc:HTR1E semapv:UnspecifiedMatching +OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:5291 semapv:UnspecifiedMatching +OMIM:182132 HTR1E skos:exactMatch hgnc.symbol:HTR1E semapv:UnspecifiedMatching OMIM:182132 HTR1E skos:exactMatch ncbigene:3354 semapv:UnspecifiedMatching -OMIM:182133 HTR1D skos:exactMatch hgnc:HTR1D semapv:UnspecifiedMatching +OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:5289 semapv:UnspecifiedMatching +OMIM:182133 HTR1D skos:exactMatch hgnc.symbol:HTR1D semapv:UnspecifiedMatching OMIM:182133 HTR1D skos:exactMatch ncbigene:3352 semapv:UnspecifiedMatching -OMIM:182134 HTR1F skos:exactMatch hgnc:HTR1F semapv:UnspecifiedMatching +OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:5292 semapv:UnspecifiedMatching +OMIM:182134 HTR1F skos:exactMatch hgnc.symbol:HTR1F semapv:UnspecifiedMatching OMIM:182134 HTR1F skos:exactMatch ncbigene:3355 semapv:UnspecifiedMatching -OMIM:182135 HTR2A skos:exactMatch hgnc:HTR2A semapv:UnspecifiedMatching +OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:5293 semapv:UnspecifiedMatching +OMIM:182135 HTR2A skos:exactMatch hgnc.symbol:HTR2A semapv:UnspecifiedMatching OMIM:182135 HTR2A skos:exactMatch ncbigene:3356 semapv:UnspecifiedMatching -OMIM:182137 HTR7 skos:exactMatch hgnc:HTR7 semapv:UnspecifiedMatching +OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:5302 semapv:UnspecifiedMatching +OMIM:182137 HTR7 skos:exactMatch hgnc.symbol:HTR7 semapv:UnspecifiedMatching OMIM:182137 HTR7 skos:exactMatch ncbigene:3363 semapv:UnspecifiedMatching -OMIM:182138 SLC6A4 skos:exactMatch hgnc:SLC6A4 semapv:UnspecifiedMatching +OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:11050 semapv:UnspecifiedMatching +OMIM:182138 SLC6A4 skos:exactMatch hgnc.symbol:SLC6A4 semapv:UnspecifiedMatching OMIM:182138 SLC6A4 skos:exactMatch ncbigene:6532 semapv:UnspecifiedMatching -OMIM:182139 HTR3A skos:exactMatch hgnc:HTR3A semapv:UnspecifiedMatching +OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:5297 semapv:UnspecifiedMatching +OMIM:182139 HTR3A skos:exactMatch hgnc.symbol:HTR3A semapv:UnspecifiedMatching OMIM:182139 HTR3A skos:exactMatch ncbigene:3359 semapv:UnspecifiedMatching -OMIM:182140 SEMG1 skos:exactMatch hgnc:SEMG1 semapv:UnspecifiedMatching +OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:10742 semapv:UnspecifiedMatching +OMIM:182140 SEMG1 skos:exactMatch hgnc.symbol:SEMG1 semapv:UnspecifiedMatching OMIM:182140 SEMG1 skos:exactMatch ncbigene:6406 semapv:UnspecifiedMatching -OMIM:182141 SEMG2 skos:exactMatch hgnc:SEMG2 semapv:UnspecifiedMatching +OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:10743 semapv:UnspecifiedMatching +OMIM:182141 SEMG2 skos:exactMatch hgnc.symbol:SEMG2 semapv:UnspecifiedMatching OMIM:182141 SEMG2 skos:exactMatch ncbigene:6407 semapv:UnspecifiedMatching -OMIM:182144 SHMT1 skos:exactMatch hgnc:SHMT1 semapv:UnspecifiedMatching +OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:10850 semapv:UnspecifiedMatching +OMIM:182144 SHMT1 skos:exactMatch hgnc.symbol:SHMT1 semapv:UnspecifiedMatching OMIM:182144 SHMT1 skos:exactMatch ncbigene:6470 semapv:UnspecifiedMatching -OMIM:182160 SPN skos:exactMatch hgnc:SPN semapv:UnspecifiedMatching +OMIM:182160 SPN skos:exactMatch hgnc.symbol:11249 semapv:UnspecifiedMatching +OMIM:182160 SPN skos:exactMatch hgnc.symbol:SPN semapv:UnspecifiedMatching OMIM:182160 SPN skos:exactMatch ncbigene:6693 semapv:UnspecifiedMatching -OMIM:182175 SRP19 skos:exactMatch hgnc:SRP19 semapv:UnspecifiedMatching +OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:11300 semapv:UnspecifiedMatching +OMIM:182175 SRP19 skos:exactMatch hgnc.symbol:SRP19 semapv:UnspecifiedMatching OMIM:182175 SRP19 skos:exactMatch ncbigene:6728 semapv:UnspecifiedMatching -OMIM:182180 SRPRA skos:exactMatch hgnc:SRPRA semapv:UnspecifiedMatching +OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:11307 semapv:UnspecifiedMatching +OMIM:182180 SRPRA skos:exactMatch hgnc.symbol:SRPRA semapv:UnspecifiedMatching OMIM:182180 SRPRA skos:exactMatch ncbigene:6734 semapv:UnspecifiedMatching -OMIM:182205 SHBG skos:exactMatch hgnc:SHBG semapv:UnspecifiedMatching +OMIM:182205 SHBG skos:exactMatch hgnc.symbol:10839 semapv:UnspecifiedMatching +OMIM:182205 SHBG skos:exactMatch hgnc.symbol:SHBG semapv:UnspecifiedMatching OMIM:182205 SHBG skos:exactMatch ncbigene:6462 semapv:UnspecifiedMatching -OMIM:182257 PI3 skos:exactMatch hgnc:PI3 semapv:UnspecifiedMatching +OMIM:182257 PI3 skos:exactMatch hgnc.symbol:8947 semapv:UnspecifiedMatching +OMIM:182257 PI3 skos:exactMatch hgnc.symbol:PI3 semapv:UnspecifiedMatching OMIM:182257 PI3 skos:exactMatch ncbigene:5266 semapv:UnspecifiedMatching -OMIM:182265 SPRR1A skos:exactMatch hgnc:SPRR1A semapv:UnspecifiedMatching +OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:11259 semapv:UnspecifiedMatching +OMIM:182265 SPRR1A skos:exactMatch hgnc.symbol:SPRR1A semapv:UnspecifiedMatching OMIM:182265 SPRR1A skos:exactMatch ncbigene:6698 semapv:UnspecifiedMatching -OMIM:182266 SPRR1B skos:exactMatch hgnc:SPRR1B semapv:UnspecifiedMatching +OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:11260 semapv:UnspecifiedMatching +OMIM:182266 SPRR1B skos:exactMatch hgnc.symbol:SPRR1B semapv:UnspecifiedMatching OMIM:182266 SPRR1B skos:exactMatch ncbigene:6699 semapv:UnspecifiedMatching -OMIM:182267 SPRR2A skos:exactMatch hgnc:SPRR2A semapv:UnspecifiedMatching +OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:11261 semapv:UnspecifiedMatching +OMIM:182267 SPRR2A skos:exactMatch hgnc.symbol:SPRR2A semapv:UnspecifiedMatching OMIM:182267 SPRR2A skos:exactMatch ncbigene:6700 semapv:UnspecifiedMatching -OMIM:182268 SPRR2B skos:exactMatch hgnc:SPRR2B semapv:UnspecifiedMatching +OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:11262 semapv:UnspecifiedMatching +OMIM:182268 SPRR2B skos:exactMatch hgnc.symbol:SPRR2B semapv:UnspecifiedMatching OMIM:182268 SPRR2B skos:exactMatch ncbigene:6701 semapv:UnspecifiedMatching -OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc:SPRR2C semapv:UnspecifiedMatching -OMIM:182271 SPRR3 skos:exactMatch hgnc:SPRR3 semapv:UnspecifiedMatching +OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:11263 semapv:UnspecifiedMatching +OMIM:182269 small proline-rich protein 2c, pseudogene skos:exactMatch hgnc.symbol:SPRR2C semapv:UnspecifiedMatching +OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:11268 semapv:UnspecifiedMatching +OMIM:182271 SPRR3 skos:exactMatch hgnc.symbol:SPRR3 semapv:UnspecifiedMatching OMIM:182271 SPRR3 skos:exactMatch ncbigene:6707 semapv:UnspecifiedMatching -OMIM:182279 SNRPN skos:exactMatch hgnc:SNRPN semapv:UnspecifiedMatching +OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:11164 semapv:UnspecifiedMatching +OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:SNRPN semapv:UnspecifiedMatching OMIM:182279 SNRPN skos:exactMatch ncbigene:6638 semapv:UnspecifiedMatching -OMIM:182281 CCL1 skos:exactMatch hgnc:CCL1 semapv:UnspecifiedMatching +OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:10609 semapv:UnspecifiedMatching +OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:CCL1 semapv:UnspecifiedMatching OMIM:182281 CCL1 skos:exactMatch ncbigene:6346 semapv:UnspecifiedMatching -OMIM:182282 SNRPB skos:exactMatch hgnc:SNRPB semapv:UnspecifiedMatching +OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:11153 semapv:UnspecifiedMatching +OMIM:182282 SNRPB skos:exactMatch hgnc.symbol:SNRPB semapv:UnspecifiedMatching OMIM:182282 SNRPB skos:exactMatch ncbigene:6628 semapv:UnspecifiedMatching -OMIM:182283 CCL3 skos:exactMatch hgnc:CCL3 semapv:UnspecifiedMatching +OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:10627 semapv:UnspecifiedMatching +OMIM:182283 CCL3 skos:exactMatch hgnc.symbol:CCL3 semapv:UnspecifiedMatching OMIM:182283 CCL3 skos:exactMatch ncbigene:6348 semapv:UnspecifiedMatching -OMIM:182284 CCL4 skos:exactMatch hgnc:CCL4 semapv:UnspecifiedMatching +OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:10630 semapv:UnspecifiedMatching +OMIM:182284 CCL4 skos:exactMatch hgnc.symbol:CCL4 semapv:UnspecifiedMatching OMIM:182284 CCL4 skos:exactMatch ncbigene:6351 semapv:UnspecifiedMatching -OMIM:182285 SNRPA skos:exactMatch hgnc:SNRPA semapv:UnspecifiedMatching +OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:11151 semapv:UnspecifiedMatching +OMIM:182285 SNRPA skos:exactMatch hgnc.symbol:SNRPA semapv:UnspecifiedMatching OMIM:182285 SNRPA skos:exactMatch ncbigene:6626 semapv:UnspecifiedMatching -OMIM:182305 SLC8A1 skos:exactMatch hgnc:SLC8A1 semapv:UnspecifiedMatching +OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:11068 semapv:UnspecifiedMatching +OMIM:182305 SLC8A1 skos:exactMatch hgnc.symbol:SLC8A1 semapv:UnspecifiedMatching OMIM:182305 SLC8A1 skos:exactMatch ncbigene:6546 semapv:UnspecifiedMatching OMIM:182307 SLC9A3 skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching OMIM:182307 SLC9A3 skos:exactMatch UMLS:C1420234 semapv:UnspecifiedMatching -OMIM:182307 SLC9A3 skos:exactMatch hgnc:SLC9A3 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:11073 semapv:UnspecifiedMatching +OMIM:182307 SLC9A3 skos:exactMatch hgnc.symbol:SLC9A3 semapv:UnspecifiedMatching OMIM:182307 SLC9A3 skos:exactMatch ncbigene:6550 semapv:UnspecifiedMatching -OMIM:182308 SLC17A1 skos:exactMatch hgnc:SLC17A1 semapv:UnspecifiedMatching +OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:10929 semapv:UnspecifiedMatching +OMIM:182308 SLC17A1 skos:exactMatch hgnc.symbol:SLC17A1 semapv:UnspecifiedMatching OMIM:182308 SLC17A1 skos:exactMatch ncbigene:6568 semapv:UnspecifiedMatching -OMIM:182309 SLC34A1 skos:exactMatch hgnc:SLC34A1 semapv:UnspecifiedMatching +OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:11019 semapv:UnspecifiedMatching +OMIM:182309 SLC34A1 skos:exactMatch hgnc.symbol:SLC34A1 semapv:UnspecifiedMatching OMIM:182309 SLC34A1 skos:exactMatch ncbigene:6569 semapv:UnspecifiedMatching -OMIM:182310 ATP1A1 skos:exactMatch hgnc:ATP1A1 semapv:UnspecifiedMatching +OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:799 semapv:UnspecifiedMatching +OMIM:182310 ATP1A1 skos:exactMatch hgnc.symbol:ATP1A1 semapv:UnspecifiedMatching OMIM:182310 ATP1A1 skos:exactMatch ncbigene:476 semapv:UnspecifiedMatching -OMIM:182330 ATP1B1 skos:exactMatch hgnc:ATP1B1 semapv:UnspecifiedMatching +OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:804 semapv:UnspecifiedMatching +OMIM:182330 ATP1B1 skos:exactMatch hgnc.symbol:ATP1B1 semapv:UnspecifiedMatching OMIM:182330 ATP1B1 skos:exactMatch ncbigene:481 semapv:UnspecifiedMatching -OMIM:182331 ATP1B2 skos:exactMatch hgnc:ATP1B2 semapv:UnspecifiedMatching +OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:805 semapv:UnspecifiedMatching +OMIM:182331 ATP1B2 skos:exactMatch hgnc.symbol:ATP1B2 semapv:UnspecifiedMatching OMIM:182331 ATP1B2 skos:exactMatch ncbigene:482 semapv:UnspecifiedMatching -OMIM:182340 ATP1A2 skos:exactMatch hgnc:ATP1A2 semapv:UnspecifiedMatching +OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:800 semapv:UnspecifiedMatching +OMIM:182340 ATP1A2 skos:exactMatch hgnc.symbol:ATP1A2 semapv:UnspecifiedMatching OMIM:182340 ATP1A2 skos:exactMatch ncbigene:477 semapv:UnspecifiedMatching -OMIM:182350 ATP1A3 skos:exactMatch hgnc:ATP1A3 semapv:UnspecifiedMatching +OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:801 semapv:UnspecifiedMatching +OMIM:182350 ATP1A3 skos:exactMatch hgnc.symbol:ATP1A3 semapv:UnspecifiedMatching OMIM:182350 ATP1A3 skos:exactMatch ncbigene:478 semapv:UnspecifiedMatching -OMIM:182360 ATP12A skos:exactMatch hgnc:ATP12A semapv:UnspecifiedMatching +OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:13816 semapv:UnspecifiedMatching +OMIM:182360 ATP12A skos:exactMatch hgnc.symbol:ATP12A semapv:UnspecifiedMatching OMIM:182360 ATP12A skos:exactMatch ncbigene:479 semapv:UnspecifiedMatching -OMIM:182380 SLC5A1 skos:exactMatch hgnc:SLC5A1 semapv:UnspecifiedMatching +OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:11036 semapv:UnspecifiedMatching +OMIM:182380 SLC5A1 skos:exactMatch hgnc.symbol:SLC5A1 semapv:UnspecifiedMatching OMIM:182380 SLC5A1 skos:exactMatch ncbigene:6523 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch UMLS:C1420201 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch UMLS:C4016376 semapv:UnspecifiedMatching -OMIM:182381 SLC5A2 skos:exactMatch hgnc:SLC5A2 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:11037 semapv:UnspecifiedMatching +OMIM:182381 SLC5A2 skos:exactMatch hgnc.symbol:SLC5A2 semapv:UnspecifiedMatching OMIM:182381 SLC5A2 skos:exactMatch ncbigene:6524 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C1419856 semapv:UnspecifiedMatching @@ -5618,61 +7579,79 @@ OMIM:182389 SCN1A skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch UMLS:C4016377 semapv:UnspecifiedMatching -OMIM:182389 SCN1A skos:exactMatch hgnc:SCN1A semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:10585 semapv:UnspecifiedMatching +OMIM:182389 SCN1A skos:exactMatch hgnc.symbol:SCN1A semapv:UnspecifiedMatching OMIM:182389 SCN1A skos:exactMatch ncbigene:6323 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C1419858 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching -OMIM:182390 SCN2A skos:exactMatch hgnc:SCN2A semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:10588 semapv:UnspecifiedMatching +OMIM:182390 SCN2A skos:exactMatch hgnc.symbol:SCN2A semapv:UnspecifiedMatching OMIM:182390 SCN2A skos:exactMatch ncbigene:6326 semapv:UnspecifiedMatching OMIM:182391 SCN3A skos:exactMatch UMLS:C1419861 semapv:UnspecifiedMatching OMIM:182391 SCN3A skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching OMIM:182391 SCN3A skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching -OMIM:182391 SCN3A skos:exactMatch hgnc:SCN3A semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:10590 semapv:UnspecifiedMatching +OMIM:182391 SCN3A skos:exactMatch hgnc.symbol:SCN3A semapv:UnspecifiedMatching OMIM:182391 SCN3A skos:exactMatch ncbigene:6328 semapv:UnspecifiedMatching OMIM:182392 SCN7A skos:exactMatch UMLS:C1419865 semapv:UnspecifiedMatching -OMIM:182392 SCN7A skos:exactMatch hgnc:SCN7A semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:10594 semapv:UnspecifiedMatching +OMIM:182392 SCN7A skos:exactMatch hgnc.symbol:SCN7A semapv:UnspecifiedMatching OMIM:182392 SCN7A skos:exactMatch ncbigene:6332 semapv:UnspecifiedMatching -OMIM:182396 SLC10A1 skos:exactMatch hgnc:SLC10A1 semapv:UnspecifiedMatching +OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:10905 semapv:UnspecifiedMatching +OMIM:182396 SLC10A1 skos:exactMatch hgnc.symbol:SLC10A1 semapv:UnspecifiedMatching OMIM:182396 SLC10A1 skos:exactMatch ncbigene:6554 semapv:UnspecifiedMatching -OMIM:182450 SST skos:exactMatch hgnc:SST semapv:UnspecifiedMatching +OMIM:182450 SST skos:exactMatch hgnc.symbol:11329 semapv:UnspecifiedMatching +OMIM:182450 SST skos:exactMatch hgnc.symbol:SST semapv:UnspecifiedMatching OMIM:182450 SST skos:exactMatch ncbigene:6750 semapv:UnspecifiedMatching -OMIM:182451 SSTR1 skos:exactMatch hgnc:SSTR1 semapv:UnspecifiedMatching +OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:11330 semapv:UnspecifiedMatching +OMIM:182451 SSTR1 skos:exactMatch hgnc.symbol:SSTR1 semapv:UnspecifiedMatching OMIM:182451 SSTR1 skos:exactMatch ncbigene:6751 semapv:UnspecifiedMatching -OMIM:182452 SSTR2 skos:exactMatch hgnc:SSTR2 semapv:UnspecifiedMatching +OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:11331 semapv:UnspecifiedMatching +OMIM:182452 SSTR2 skos:exactMatch hgnc.symbol:SSTR2 semapv:UnspecifiedMatching OMIM:182452 SSTR2 skos:exactMatch ncbigene:6752 semapv:UnspecifiedMatching -OMIM:182453 SSTR3 skos:exactMatch hgnc:SSTR3 semapv:UnspecifiedMatching +OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:11332 semapv:UnspecifiedMatching +OMIM:182453 SSTR3 skos:exactMatch hgnc.symbol:SSTR3 semapv:UnspecifiedMatching OMIM:182453 SSTR3 skos:exactMatch ncbigene:6753 semapv:UnspecifiedMatching -OMIM:182454 SSTR4 skos:exactMatch hgnc:SSTR4 semapv:UnspecifiedMatching +OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:11333 semapv:UnspecifiedMatching +OMIM:182454 SSTR4 skos:exactMatch hgnc.symbol:SSTR4 semapv:UnspecifiedMatching OMIM:182454 SSTR4 skos:exactMatch ncbigene:6754 semapv:UnspecifiedMatching OMIM:182455 SSTR5 skos:exactMatch UMLS:C1335870 semapv:UnspecifiedMatching OMIM:182455 SSTR5 skos:exactMatch UMLS:C5436944 semapv:UnspecifiedMatching -OMIM:182455 SSTR5 skos:exactMatch hgnc:SSTR5 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:11334 semapv:UnspecifiedMatching +OMIM:182455 SSTR5 skos:exactMatch hgnc.symbol:SSTR5 semapv:UnspecifiedMatching OMIM:182455 SSTR5 skos:exactMatch ncbigene:6755 semapv:UnspecifiedMatching -OMIM:182465 SON skos:exactMatch hgnc:SON semapv:UnspecifiedMatching +OMIM:182465 SON skos:exactMatch hgnc.symbol:11183 semapv:UnspecifiedMatching +OMIM:182465 SON skos:exactMatch hgnc.symbol:SON semapv:UnspecifiedMatching OMIM:182465 SON skos:exactMatch ncbigene:6651 semapv:UnspecifiedMatching OMIM:182500 SORD skos:exactMatch UMLS:C1420311 semapv:UnspecifiedMatching OMIM:182500 SORD skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching -OMIM:182500 SORD skos:exactMatch hgnc:SORD semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch hgnc.symbol:11184 semapv:UnspecifiedMatching +OMIM:182500 SORD skos:exactMatch hgnc.symbol:SORD semapv:UnspecifiedMatching OMIM:182500 SORD skos:exactMatch ncbigene:6652 semapv:UnspecifiedMatching -OMIM:182520 SRI skos:exactMatch hgnc:SRI semapv:UnspecifiedMatching +OMIM:182520 SRI skos:exactMatch hgnc.symbol:11292 semapv:UnspecifiedMatching +OMIM:182520 SRI skos:exactMatch hgnc.symbol:SRI semapv:UnspecifiedMatching OMIM:182520 SRI skos:exactMatch ncbigene:6717 semapv:UnspecifiedMatching OMIM:182530 SOS1 skos:exactMatch UMLS:C1420314 semapv:UnspecifiedMatching OMIM:182530 SOS1 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching OMIM:182530 SOS1 skos:exactMatch UMLS:C4551558 semapv:UnspecifiedMatching -OMIM:182530 SOS1 skos:exactMatch hgnc:SOS1 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:11187 semapv:UnspecifiedMatching +OMIM:182530 SOS1 skos:exactMatch hgnc.symbol:SOS1 semapv:UnspecifiedMatching OMIM:182530 SOS1 skos:exactMatch ncbigene:6654 semapv:UnspecifiedMatching -OMIM:182590 TFF2 skos:exactMatch hgnc:TFF2 semapv:UnspecifiedMatching +OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:11756 semapv:UnspecifiedMatching +OMIM:182590 TFF2 skos:exactMatch hgnc.symbol:TFF2 semapv:UnspecifiedMatching OMIM:182590 TFF2 skos:exactMatch ncbigene:7032 semapv:UnspecifiedMatching +OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch Orphanet:100984 semapv:UnspecifiedMatching OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch UMLS:C2931355 semapv:UnspecifiedMatching -OMIM:182600 spastic paraplegia 3, autosomal dominant skos:exactMatch orphanet.ordo:100984 semapv:UnspecifiedMatching -OMIM:182790 SPTBN1 skos:exactMatch hgnc:SPTBN1 semapv:UnspecifiedMatching +OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:11275 semapv:UnspecifiedMatching +OMIM:182790 SPTBN1 skos:exactMatch hgnc.symbol:SPTBN1 semapv:UnspecifiedMatching OMIM:182790 SPTBN1 skos:exactMatch ncbigene:6711 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch UMLS:C1420386 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching -OMIM:182810 SPTAN1 skos:exactMatch hgnc:SPTAN1 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:11273 semapv:UnspecifiedMatching +OMIM:182810 SPTAN1 skos:exactMatch hgnc.symbol:SPTAN1 semapv:UnspecifiedMatching OMIM:182810 SPTAN1 skos:exactMatch ncbigene:6709 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C0520739 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C1420385 semapv:UnspecifiedMatching @@ -5680,276 +7659,387 @@ OMIM:182860 SPTA1 skos:exactMatch UMLS:C1851741 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C4016379 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310960 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch UMLS:C4310961 semapv:UnspecifiedMatching -OMIM:182860 SPTA1 skos:exactMatch hgnc:SPTA1 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:11272 semapv:UnspecifiedMatching +OMIM:182860 SPTA1 skos:exactMatch hgnc.symbol:SPTA1 semapv:UnspecifiedMatching OMIM:182860 SPTA1 skos:exactMatch ncbigene:6708 semapv:UnspecifiedMatching -OMIM:182870 SPTB skos:exactMatch hgnc:SPTB semapv:UnspecifiedMatching +OMIM:182870 SPTB skos:exactMatch hgnc.symbol:11274 semapv:UnspecifiedMatching +OMIM:182870 SPTB skos:exactMatch hgnc.symbol:SPTB semapv:UnspecifiedMatching OMIM:182870 SPTB skos:exactMatch ncbigene:6710 semapv:UnspecifiedMatching -OMIM:182878 ODF1 skos:exactMatch hgnc:ODF1 semapv:UnspecifiedMatching +OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:8113 semapv:UnspecifiedMatching +OMIM:182878 ODF1 skos:exactMatch hgnc.symbol:ODF1 semapv:UnspecifiedMatching OMIM:182878 ODF1 skos:exactMatch ncbigene:4956 semapv:UnspecifiedMatching -OMIM:182880 PRM1 skos:exactMatch hgnc:PRM1 semapv:UnspecifiedMatching +OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:9447 semapv:UnspecifiedMatching +OMIM:182880 PRM1 skos:exactMatch hgnc.symbol:PRM1 semapv:UnspecifiedMatching OMIM:182880 PRM1 skos:exactMatch ncbigene:5619 semapv:UnspecifiedMatching -OMIM:182888 ZP2 skos:exactMatch hgnc:ZP2 semapv:UnspecifiedMatching +OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:13188 semapv:UnspecifiedMatching +OMIM:182888 ZP2 skos:exactMatch hgnc.symbol:ZP2 semapv:UnspecifiedMatching OMIM:182888 ZP2 skos:exactMatch ncbigene:7783 semapv:UnspecifiedMatching -OMIM:182889 ZP3 skos:exactMatch hgnc:ZP3 semapv:UnspecifiedMatching +OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:13189 semapv:UnspecifiedMatching +OMIM:182889 ZP3 skos:exactMatch hgnc.symbol:ZP3 semapv:UnspecifiedMatching OMIM:182889 ZP3 skos:exactMatch ncbigene:7784 semapv:UnspecifiedMatching -OMIM:182890 PRM2 skos:exactMatch hgnc:PRM2 semapv:UnspecifiedMatching +OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:9448 semapv:UnspecifiedMatching +OMIM:182890 PRM2 skos:exactMatch hgnc.symbol:PRM2 semapv:UnspecifiedMatching OMIM:182890 PRM2 skos:exactMatch ncbigene:5620 semapv:UnspecifiedMatching -OMIM:182891 SRM skos:exactMatch hgnc:SRM semapv:UnspecifiedMatching +OMIM:182891 SRM skos:exactMatch hgnc.symbol:11296 semapv:UnspecifiedMatching +OMIM:182891 SRM skos:exactMatch hgnc.symbol:SRM semapv:UnspecifiedMatching OMIM:182891 SRM skos:exactMatch ncbigene:6723 semapv:UnspecifiedMatching +OMIM:182920 skos:exactMatch Orphanet:268129 semapv:UnspecifiedMatching OMIM:182920 skos:exactMatch UMLS:C1866785 semapv:UnspecifiedMatching -OMIM:182920 skos:exactMatch orphanet.ordo:268129 semapv:UnspecifiedMatching +OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 semapv:UnspecifiedMatching OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch UMLS:C1866784 semapv:UnspecifiedMatching -OMIM:182960 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch orphanet.ordo:139518 semapv:UnspecifiedMatching +OMIM:183600 split-hand/foot malformation 1 skos:exactMatch Orphanet:2440 semapv:UnspecifiedMatching OMIM:183600 split-hand/foot malformation 1 skos:exactMatch UMLS:C2931019 semapv:UnspecifiedMatching -OMIM:183600 split-hand/foot malformation 1 skos:exactMatch orphanet.ordo:2440 semapv:UnspecifiedMatching -OMIM:184420 FDFT1 skos:exactMatch hgnc:FDFT1 semapv:UnspecifiedMatching +OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:3629 semapv:UnspecifiedMatching +OMIM:184420 FDFT1 skos:exactMatch hgnc.symbol:FDFT1 semapv:UnspecifiedMatching OMIM:184420 FDFT1 skos:exactMatch ncbigene:2222 semapv:UnspecifiedMatching OMIM:184429 SOX2 skos:exactMatch UMLS:C1420322 semapv:UnspecifiedMatching OMIM:184429 SOX2 skos:exactMatch UMLS:C1859773 semapv:UnspecifiedMatching OMIM:184429 SOX2 skos:exactMatch UMLS:C1859774 semapv:UnspecifiedMatching -OMIM:184429 SOX2 skos:exactMatch hgnc:SOX2 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:11195 semapv:UnspecifiedMatching +OMIM:184429 SOX2 skos:exactMatch hgnc.symbol:SOX2 semapv:UnspecifiedMatching OMIM:184429 SOX2 skos:exactMatch ncbigene:6657 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch UMLS:C1420327 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch UMLS:C4760583 semapv:UnspecifiedMatching -OMIM:184430 SOX4 skos:exactMatch hgnc:SOX4 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:11200 semapv:UnspecifiedMatching +OMIM:184430 SOX4 skos:exactMatch hgnc.symbol:SOX4 semapv:UnspecifiedMatching OMIM:184430 SOX4 skos:exactMatch ncbigene:6659 semapv:UnspecifiedMatching -OMIM:184470 STATH skos:exactMatch hgnc:STATH semapv:UnspecifiedMatching +OMIM:184470 STATH skos:exactMatch hgnc.symbol:11369 semapv:UnspecifiedMatching +OMIM:184470 STATH skos:exactMatch hgnc.symbol:STATH semapv:UnspecifiedMatching OMIM:184470 STATH skos:exactMatch ncbigene:6779 semapv:UnspecifiedMatching -OMIM:184600 CSTA skos:exactMatch hgnc:CSTA semapv:UnspecifiedMatching +OMIM:184600 CSTA skos:exactMatch hgnc.symbol:2481 semapv:UnspecifiedMatching +OMIM:184600 CSTA skos:exactMatch hgnc.symbol:CSTA semapv:UnspecifiedMatching OMIM:184600 CSTA skos:exactMatch ncbigene:1475 semapv:UnspecifiedMatching -OMIM:184745 KITLG skos:exactMatch hgnc:KITLG semapv:UnspecifiedMatching +OMIM:184745 KITLG skos:exactMatch hgnc.symbol:6343 semapv:UnspecifiedMatching +OMIM:184745 KITLG skos:exactMatch hgnc.symbol:KITLG semapv:UnspecifiedMatching OMIM:184745 KITLG skos:exactMatch ncbigene:4254 semapv:UnspecifiedMatching -OMIM:184753 SRD5A1 skos:exactMatch hgnc:SRD5A1 semapv:UnspecifiedMatching +OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:11284 semapv:UnspecifiedMatching +OMIM:184753 SRD5A1 skos:exactMatch hgnc.symbol:SRD5A1 semapv:UnspecifiedMatching OMIM:184753 SRD5A1 skos:exactMatch ncbigene:6715 semapv:UnspecifiedMatching -OMIM:184755 SCP2 skos:exactMatch hgnc:SCP2 semapv:UnspecifiedMatching +OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:10606 semapv:UnspecifiedMatching +OMIM:184755 SCP2 skos:exactMatch hgnc.symbol:SCP2 semapv:UnspecifiedMatching OMIM:184755 SCP2 skos:exactMatch ncbigene:6342 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch UMLS:C1274795 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch UMLS:C1420398 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching -OMIM:184756 SREBF1 skos:exactMatch hgnc:SREBF1 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:11289 semapv:UnspecifiedMatching +OMIM:184756 SREBF1 skos:exactMatch hgnc.symbol:SREBF1 semapv:UnspecifiedMatching OMIM:184756 SREBF1 skos:exactMatch ncbigene:6720 semapv:UnspecifiedMatching -OMIM:184757 NR5A1 skos:exactMatch hgnc:NR5A1 semapv:UnspecifiedMatching +OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:7983 semapv:UnspecifiedMatching +OMIM:184757 NR5A1 skos:exactMatch hgnc.symbol:NR5A1 semapv:UnspecifiedMatching OMIM:184757 NR5A1 skos:exactMatch ncbigene:2516 semapv:UnspecifiedMatching -OMIM:185250 MMP3 skos:exactMatch hgnc:MMP3 semapv:UnspecifiedMatching +OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:7173 semapv:UnspecifiedMatching +OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:MMP3 semapv:UnspecifiedMatching OMIM:185250 MMP3 skos:exactMatch ncbigene:4314 semapv:UnspecifiedMatching -OMIM:185260 MMP10 skos:exactMatch hgnc:MMP10 semapv:UnspecifiedMatching +OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:7156 semapv:UnspecifiedMatching +OMIM:185260 MMP10 skos:exactMatch hgnc.symbol:MMP10 semapv:UnspecifiedMatching OMIM:185260 MMP10 skos:exactMatch ncbigene:4319 semapv:UnspecifiedMatching -OMIM:185261 MMP11 skos:exactMatch hgnc:MMP11 semapv:UnspecifiedMatching +OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:7157 semapv:UnspecifiedMatching +OMIM:185261 MMP11 skos:exactMatch hgnc.symbol:MMP11 semapv:UnspecifiedMatching OMIM:185261 MMP11 skos:exactMatch ncbigene:4320 semapv:UnspecifiedMatching +OMIM:185300 sturge-weber syndrome skos:exactMatch Orphanet:3205 semapv:UnspecifiedMatching OMIM:185300 sturge-weber syndrome skos:exactMatch UMLS:C0038505 semapv:UnspecifiedMatching -OMIM:185300 sturge-weber syndrome skos:exactMatch orphanet.ordo:3205 semapv:UnspecifiedMatching -OMIM:185430 CLU skos:exactMatch hgnc:CLU semapv:UnspecifiedMatching +OMIM:185430 CLU skos:exactMatch hgnc.symbol:2095 semapv:UnspecifiedMatching +OMIM:185430 CLU skos:exactMatch hgnc.symbol:CLU semapv:UnspecifiedMatching OMIM:185430 CLU skos:exactMatch ncbigene:1191 semapv:UnspecifiedMatching OMIM:185440 ST2 skos:exactMatch ncbigene:6761 semapv:UnspecifiedMatching -OMIM:185470 SDHB skos:exactMatch hgnc:SDHB semapv:UnspecifiedMatching +OMIM:185470 SDHB skos:exactMatch hgnc.symbol:10681 semapv:UnspecifiedMatching +OMIM:185470 SDHB skos:exactMatch hgnc.symbol:SDHB semapv:UnspecifiedMatching OMIM:185470 SDHB skos:exactMatch ncbigene:6390 semapv:UnspecifiedMatching -OMIM:185490 SOD3 skos:exactMatch hgnc:SOD3 semapv:UnspecifiedMatching +OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:11181 semapv:UnspecifiedMatching +OMIM:185490 SOD3 skos:exactMatch hgnc.symbol:SOD3 semapv:UnspecifiedMatching OMIM:185490 SOD3 skos:exactMatch ncbigene:6649 semapv:UnspecifiedMatching -OMIM:185535 EPCAM skos:exactMatch hgnc:EPCAM semapv:UnspecifiedMatching +OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:11529 semapv:UnspecifiedMatching +OMIM:185535 EPCAM skos:exactMatch hgnc.symbol:EPCAM semapv:UnspecifiedMatching OMIM:185535 EPCAM skos:exactMatch ncbigene:4072 semapv:UnspecifiedMatching -OMIM:185605 SYT1 skos:exactMatch hgnc:SYT1 semapv:UnspecifiedMatching +OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:11509 semapv:UnspecifiedMatching +OMIM:185605 SYT1 skos:exactMatch hgnc.symbol:SYT1 semapv:UnspecifiedMatching OMIM:185605 SYT1 skos:exactMatch ncbigene:6857 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch UMLS:C1420527 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch UMLS:C4225246 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching -OMIM:185620 SURF1 skos:exactMatch hgnc:SURF1 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:11474 semapv:UnspecifiedMatching +OMIM:185620 SURF1 skos:exactMatch hgnc.symbol:SURF1 semapv:UnspecifiedMatching OMIM:185620 SURF1 skos:exactMatch ncbigene:6834 semapv:UnspecifiedMatching -OMIM:185630 SURF2 skos:exactMatch hgnc:SURF2 semapv:UnspecifiedMatching +OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:11475 semapv:UnspecifiedMatching +OMIM:185630 SURF2 skos:exactMatch hgnc.symbol:SURF2 semapv:UnspecifiedMatching OMIM:185630 SURF2 skos:exactMatch ncbigene:6835 semapv:UnspecifiedMatching -OMIM:185640 RPL7A skos:exactMatch hgnc:RPL7A semapv:UnspecifiedMatching +OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:10364 semapv:UnspecifiedMatching +OMIM:185640 RPL7A skos:exactMatch hgnc.symbol:RPL7A semapv:UnspecifiedMatching OMIM:185640 RPL7A skos:exactMatch ncbigene:6130 semapv:UnspecifiedMatching -OMIM:185641 MED22 skos:exactMatch hgnc:MED22 semapv:UnspecifiedMatching +OMIM:185641 MED22 skos:exactMatch hgnc.symbol:11477 semapv:UnspecifiedMatching +OMIM:185641 MED22 skos:exactMatch hgnc.symbol:MED22 semapv:UnspecifiedMatching OMIM:185641 MED22 skos:exactMatch ncbigene:6837 semapv:UnspecifiedMatching -OMIM:185642 SURF6 skos:exactMatch hgnc:SURF6 semapv:UnspecifiedMatching +OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:11478 semapv:UnspecifiedMatching +OMIM:185642 SURF6 skos:exactMatch hgnc.symbol:SURF6 semapv:UnspecifiedMatching OMIM:185642 SURF6 skos:exactMatch ncbigene:6838 semapv:UnspecifiedMatching -OMIM:185660 SURF4 skos:exactMatch hgnc:SURF4 semapv:UnspecifiedMatching +OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:11476 semapv:UnspecifiedMatching +OMIM:185660 SURF4 skos:exactMatch hgnc.symbol:SURF4 semapv:UnspecifiedMatching OMIM:185660 SURF4 skos:exactMatch ncbigene:6836 semapv:UnspecifiedMatching +OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 semapv:UnspecifiedMatching OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch UMLS:C1861391 semapv:UnspecifiedMatching -OMIM:185750 symphalangism with multiple anomalies of hands and feet skos:exactMatch orphanet.ordo:3246 semapv:UnspecifiedMatching -OMIM:185860 SV2A skos:exactMatch hgnc:SV2A semapv:UnspecifiedMatching +OMIM:185860 SV2A skos:exactMatch hgnc.symbol:20566 semapv:UnspecifiedMatching +OMIM:185860 SV2A skos:exactMatch hgnc.symbol:SV2A semapv:UnspecifiedMatching OMIM:185860 SV2A skos:exactMatch ncbigene:9900 semapv:UnspecifiedMatching -OMIM:185861 SV2B skos:exactMatch hgnc:SV2B semapv:UnspecifiedMatching +OMIM:185861 SV2B skos:exactMatch hgnc.symbol:16874 semapv:UnspecifiedMatching +OMIM:185861 SV2B skos:exactMatch hgnc.symbol:SV2B semapv:UnspecifiedMatching OMIM:185861 SV2B skos:exactMatch ncbigene:9899 semapv:UnspecifiedMatching -OMIM:185880 VAMP1 skos:exactMatch hgnc:VAMP1 semapv:UnspecifiedMatching +OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:12642 semapv:UnspecifiedMatching +OMIM:185880 VAMP1 skos:exactMatch hgnc.symbol:VAMP1 semapv:UnspecifiedMatching OMIM:185880 VAMP1 skos:exactMatch ncbigene:6843 semapv:UnspecifiedMatching OMIM:185881 VAMP2 skos:exactMatch UMLS:C1421419 semapv:UnspecifiedMatching OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231518 semapv:UnspecifiedMatching OMIM:185881 VAMP2 skos:exactMatch UMLS:C5231519 semapv:UnspecifiedMatching -OMIM:185881 VAMP2 skos:exactMatch hgnc:VAMP2 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:12643 semapv:UnspecifiedMatching +OMIM:185881 VAMP2 skos:exactMatch hgnc.symbol:VAMP2 semapv:UnspecifiedMatching OMIM:185881 VAMP2 skos:exactMatch ncbigene:6844 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:1527 semapv:UnspecifiedMatching +OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch Orphanet:93402 semapv:UnspecifiedMatching OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch UMLS:C1861380 semapv:UnspecifiedMatching -OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch orphanet.ordo:1527 semapv:UnspecifiedMatching -OMIM:185900 chromosome 2q35 duplication syndrome skos:exactMatch orphanet.ordo:93402 semapv:UnspecifiedMatching +OMIM:186100 syndactyly, iia 3 skos:exactMatch Orphanet:93404 semapv:UnspecifiedMatching OMIM:186100 syndactyly, iia 3 skos:exactMatch UMLS:C1861366 semapv:UnspecifiedMatching -OMIM:186100 syndactyly, iia 3 skos:exactMatch orphanet.ordo:93404 semapv:UnspecifiedMatching -OMIM:186355 SDC1 skos:exactMatch hgnc:SDC1 semapv:UnspecifiedMatching +OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:10658 semapv:UnspecifiedMatching +OMIM:186355 SDC1 skos:exactMatch hgnc.symbol:SDC1 semapv:UnspecifiedMatching OMIM:186355 SDC1 skos:exactMatch ncbigene:6382 semapv:UnspecifiedMatching -OMIM:186357 SDC3 skos:exactMatch hgnc:SDC3 semapv:UnspecifiedMatching +OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:10660 semapv:UnspecifiedMatching +OMIM:186357 SDC3 skos:exactMatch hgnc.symbol:SDC3 semapv:UnspecifiedMatching OMIM:186357 SDC3 skos:exactMatch ncbigene:9672 semapv:UnspecifiedMatching -OMIM:186360 ANXA7 skos:exactMatch hgnc:ANXA7 semapv:UnspecifiedMatching +OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:545 semapv:UnspecifiedMatching +OMIM:186360 ANXA7 skos:exactMatch hgnc.symbol:ANXA7 semapv:UnspecifiedMatching OMIM:186360 ANXA7 skos:exactMatch ncbigene:310 semapv:UnspecifiedMatching -OMIM:186590 STX1A skos:exactMatch hgnc:STX1A semapv:UnspecifiedMatching +OMIM:186590 STX1A skos:exactMatch hgnc.symbol:11433 semapv:UnspecifiedMatching +OMIM:186590 STX1A skos:exactMatch hgnc.symbol:STX1A semapv:UnspecifiedMatching OMIM:186590 STX1A skos:exactMatch ncbigene:6804 semapv:UnspecifiedMatching -OMIM:186591 STX4 skos:exactMatch hgnc:STX4 semapv:UnspecifiedMatching +OMIM:186591 STX4 skos:exactMatch hgnc.symbol:11439 semapv:UnspecifiedMatching +OMIM:186591 STX4 skos:exactMatch hgnc.symbol:STX4 semapv:UnspecifiedMatching OMIM:186591 STX4 skos:exactMatch ncbigene:6810 semapv:UnspecifiedMatching -OMIM:186711 CD27 skos:exactMatch hgnc:CD27 semapv:UnspecifiedMatching +OMIM:186711 CD27 skos:exactMatch hgnc.symbol:11922 semapv:UnspecifiedMatching +OMIM:186711 CD27 skos:exactMatch hgnc.symbol:CD27 semapv:UnspecifiedMatching OMIM:186711 CD27 skos:exactMatch ncbigene:939 semapv:UnspecifiedMatching -OMIM:186720 CD6 skos:exactMatch hgnc:CD6 semapv:UnspecifiedMatching +OMIM:186720 CD6 skos:exactMatch hgnc.symbol:1691 semapv:UnspecifiedMatching +OMIM:186720 CD6 skos:exactMatch hgnc.symbol:CD6 semapv:UnspecifiedMatching OMIM:186720 CD6 skos:exactMatch ncbigene:923 semapv:UnspecifiedMatching -OMIM:186730 CD8B skos:exactMatch hgnc:CD8B semapv:UnspecifiedMatching +OMIM:186730 CD8B skos:exactMatch hgnc.symbol:1707 semapv:UnspecifiedMatching +OMIM:186730 CD8B skos:exactMatch hgnc.symbol:CD8B semapv:UnspecifiedMatching OMIM:186730 CD8B skos:exactMatch ncbigene:926 semapv:UnspecifiedMatching -OMIM:186740 CD3G skos:exactMatch hgnc:CD3G semapv:UnspecifiedMatching +OMIM:186740 CD3G skos:exactMatch hgnc.symbol:1675 semapv:UnspecifiedMatching +OMIM:186740 CD3G skos:exactMatch hgnc.symbol:CD3G semapv:UnspecifiedMatching OMIM:186740 CD3G skos:exactMatch ncbigene:917 semapv:UnspecifiedMatching -OMIM:186745 TLN1 skos:exactMatch hgnc:TLN1 semapv:UnspecifiedMatching +OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:11845 semapv:UnspecifiedMatching +OMIM:186745 TLN1 skos:exactMatch hgnc.symbol:TLN1 semapv:UnspecifiedMatching OMIM:186745 TLN1 skos:exactMatch ncbigene:7094 semapv:UnspecifiedMatching -OMIM:186760 CD28 skos:exactMatch hgnc:CD28 semapv:UnspecifiedMatching +OMIM:186760 CD28 skos:exactMatch hgnc.symbol:1653 semapv:UnspecifiedMatching +OMIM:186760 CD28 skos:exactMatch hgnc.symbol:CD28 semapv:UnspecifiedMatching OMIM:186760 CD28 skos:exactMatch ncbigene:940 semapv:UnspecifiedMatching -OMIM:186770 TLX1 skos:exactMatch hgnc:TLX1 semapv:UnspecifiedMatching +OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:5056 semapv:UnspecifiedMatching +OMIM:186770 TLX1 skos:exactMatch hgnc.symbol:TLX1 semapv:UnspecifiedMatching OMIM:186770 TLX1 skos:exactMatch ncbigene:3195 semapv:UnspecifiedMatching -OMIM:186780 CD247 skos:exactMatch hgnc:CD247 semapv:UnspecifiedMatching +OMIM:186780 CD247 skos:exactMatch hgnc.symbol:1677 semapv:UnspecifiedMatching +OMIM:186780 CD247 skos:exactMatch hgnc.symbol:CD247 semapv:UnspecifiedMatching OMIM:186780 CD247 skos:exactMatch ncbigene:919 semapv:UnspecifiedMatching -OMIM:186790 CD3D skos:exactMatch hgnc:CD3D semapv:UnspecifiedMatching +OMIM:186790 CD3D skos:exactMatch hgnc.symbol:1673 semapv:UnspecifiedMatching +OMIM:186790 CD3D skos:exactMatch hgnc.symbol:CD3D semapv:UnspecifiedMatching OMIM:186790 CD3D skos:exactMatch ncbigene:915 semapv:UnspecifiedMatching -OMIM:186810 TRDC skos:exactMatch hgnc:TRDC semapv:UnspecifiedMatching +OMIM:186810 TRDC skos:exactMatch hgnc.symbol:12253 semapv:UnspecifiedMatching +OMIM:186810 TRDC skos:exactMatch hgnc.symbol:TRDC semapv:UnspecifiedMatching OMIM:186810 TRDC skos:exactMatch ncbigene:28526 semapv:UnspecifiedMatching -OMIM:186820 CD7 skos:exactMatch hgnc:CD7 semapv:UnspecifiedMatching +OMIM:186820 CD7 skos:exactMatch hgnc.symbol:1695 semapv:UnspecifiedMatching +OMIM:186820 CD7 skos:exactMatch hgnc.symbol:CD7 semapv:UnspecifiedMatching OMIM:186820 CD7 skos:exactMatch ncbigene:924 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch UMLS:C1332711 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch UMLS:C3810127 semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch UMLS:C3810128 semapv:UnspecifiedMatching -OMIM:186830 CD3E skos:exactMatch hgnc:CD3E semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch hgnc.symbol:1674 semapv:UnspecifiedMatching +OMIM:186830 CD3E skos:exactMatch hgnc.symbol:CD3E semapv:UnspecifiedMatching OMIM:186830 CD3E skos:exactMatch ncbigene:916 semapv:UnspecifiedMatching -OMIM:186845 CD81 skos:exactMatch hgnc:CD81 semapv:UnspecifiedMatching +OMIM:186845 CD81 skos:exactMatch hgnc.symbol:1701 semapv:UnspecifiedMatching +OMIM:186845 CD81 skos:exactMatch hgnc.symbol:CD81 semapv:UnspecifiedMatching OMIM:186845 CD81 skos:exactMatch ncbigene:975 semapv:UnspecifiedMatching -OMIM:186852 PSMC3 skos:exactMatch hgnc:PSMC3 semapv:UnspecifiedMatching +OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:9549 semapv:UnspecifiedMatching +OMIM:186852 PSMC3 skos:exactMatch hgnc.symbol:PSMC3 semapv:UnspecifiedMatching OMIM:186852 PSMC3 skos:exactMatch ncbigene:5702 semapv:UnspecifiedMatching -OMIM:186854 SLC6A6 skos:exactMatch hgnc:SLC6A6 semapv:UnspecifiedMatching +OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:11052 semapv:UnspecifiedMatching +OMIM:186854 SLC6A6 skos:exactMatch hgnc.symbol:SLC6A6 semapv:UnspecifiedMatching OMIM:186854 SLC6A6 skos:exactMatch ncbigene:6533 semapv:UnspecifiedMatching -OMIM:186855 TAL2 skos:exactMatch hgnc:TAL2 semapv:UnspecifiedMatching +OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:11557 semapv:UnspecifiedMatching +OMIM:186855 TAL2 skos:exactMatch hgnc.symbol:TAL2 semapv:UnspecifiedMatching OMIM:186855 TAL2 skos:exactMatch ncbigene:6887 semapv:UnspecifiedMatching OMIM:186860 TCL4 skos:exactMatch ncbigene:6946 semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch UMLS:C1420886 semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch UMLS:C3809332 semapv:UnspecifiedMatching -OMIM:186880 TRAC skos:exactMatch hgnc:TRAC semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch hgnc.symbol:12029 semapv:UnspecifiedMatching +OMIM:186880 TRAC skos:exactMatch hgnc.symbol:TRAC semapv:UnspecifiedMatching OMIM:186880 TRAC skos:exactMatch ncbigene:28755 semapv:UnspecifiedMatching -OMIM:186910 CD8A skos:exactMatch hgnc:CD8A semapv:UnspecifiedMatching +OMIM:186910 CD8A skos:exactMatch hgnc.symbol:1706 semapv:UnspecifiedMatching +OMIM:186910 CD8A skos:exactMatch hgnc.symbol:CD8A semapv:UnspecifiedMatching OMIM:186910 CD8A skos:exactMatch ncbigene:925 semapv:UnspecifiedMatching -OMIM:186921 LMO1 skos:exactMatch hgnc:LMO1 semapv:UnspecifiedMatching +OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:6641 semapv:UnspecifiedMatching +OMIM:186921 LMO1 skos:exactMatch hgnc.symbol:LMO1 semapv:UnspecifiedMatching OMIM:186921 LMO1 skos:exactMatch ncbigene:4004 semapv:UnspecifiedMatching -OMIM:186930 TRBC1 skos:exactMatch hgnc:TRBC1 semapv:UnspecifiedMatching +OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:12156 semapv:UnspecifiedMatching +OMIM:186930 TRBC1 skos:exactMatch hgnc.symbol:TRBC1 semapv:UnspecifiedMatching OMIM:186930 TRBC1 skos:exactMatch ncbigene:28639 semapv:UnspecifiedMatching -OMIM:186940 CD4 skos:exactMatch hgnc:CD4 semapv:UnspecifiedMatching +OMIM:186940 CD4 skos:exactMatch hgnc.symbol:1678 semapv:UnspecifiedMatching +OMIM:186940 CD4 skos:exactMatch hgnc.symbol:CD4 semapv:UnspecifiedMatching OMIM:186940 CD4 skos:exactMatch ncbigene:920 semapv:UnspecifiedMatching -OMIM:186945 FKBP1A skos:exactMatch hgnc:FKBP1A semapv:UnspecifiedMatching +OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:3711 semapv:UnspecifiedMatching +OMIM:186945 FKBP1A skos:exactMatch hgnc.symbol:FKBP1A semapv:UnspecifiedMatching OMIM:186945 FKBP1A skos:exactMatch ncbigene:2280 semapv:UnspecifiedMatching -OMIM:186946 FKBP2 skos:exactMatch hgnc:FKBP2 semapv:UnspecifiedMatching +OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:3718 semapv:UnspecifiedMatching +OMIM:186946 FKBP2 skos:exactMatch hgnc.symbol:FKBP2 semapv:UnspecifiedMatching OMIM:186946 FKBP2 skos:exactMatch ncbigene:2286 semapv:UnspecifiedMatching -OMIM:186947 FKBP3 skos:exactMatch hgnc:FKBP3 semapv:UnspecifiedMatching +OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:3719 semapv:UnspecifiedMatching +OMIM:186947 FKBP3 skos:exactMatch hgnc.symbol:FKBP3 semapv:UnspecifiedMatching OMIM:186947 FKBP3 skos:exactMatch ncbigene:2287 semapv:UnspecifiedMatching -OMIM:186960 TCL1A skos:exactMatch hgnc:TCL1A semapv:UnspecifiedMatching +OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:11648 semapv:UnspecifiedMatching +OMIM:186960 TCL1A skos:exactMatch hgnc.symbol:TCL1A semapv:UnspecifiedMatching OMIM:186960 TCL1A skos:exactMatch ncbigene:8115 semapv:UnspecifiedMatching -OMIM:186970 TRGC1 skos:exactMatch hgnc:TRGC1 semapv:UnspecifiedMatching +OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:12275 semapv:UnspecifiedMatching +OMIM:186970 TRGC1 skos:exactMatch hgnc.symbol:TRGC1 semapv:UnspecifiedMatching OMIM:186970 TRGC1 skos:exactMatch ncbigene:6966 semapv:UnspecifiedMatching -OMIM:186973 ITK skos:exactMatch hgnc:ITK semapv:UnspecifiedMatching +OMIM:186973 ITK skos:exactMatch hgnc.symbol:6171 semapv:UnspecifiedMatching +OMIM:186973 ITK skos:exactMatch hgnc.symbol:ITK semapv:UnspecifiedMatching OMIM:186973 ITK skos:exactMatch ncbigene:3702 semapv:UnspecifiedMatching OMIM:186975 TCTE1 skos:exactMatch UMLS:C1420661 semapv:UnspecifiedMatching -OMIM:186975 TCTE1 skos:exactMatch hgnc:TCTE1 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:11693 semapv:UnspecifiedMatching +OMIM:186975 TCTE1 skos:exactMatch hgnc.symbol:TCTE1 semapv:UnspecifiedMatching OMIM:186975 TCTE1 skos:exactMatch ncbigene:202500 semapv:UnspecifiedMatching -OMIM:186977 TCTE3 skos:exactMatch hgnc:DYNLT2 semapv:UnspecifiedMatching +OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:11695 semapv:UnspecifiedMatching +OMIM:186977 TCTE3 skos:exactMatch hgnc.symbol:DYNLT2 semapv:UnspecifiedMatching OMIM:186977 TCTE3 skos:exactMatch ncbigene:6991 semapv:UnspecifiedMatching -OMIM:186980 TCP1 skos:exactMatch hgnc:TCP1 semapv:UnspecifiedMatching +OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:11655 semapv:UnspecifiedMatching +OMIM:186980 TCP1 skos:exactMatch hgnc.symbol:TCP1 semapv:UnspecifiedMatching OMIM:186980 TCP1 skos:exactMatch ncbigene:6950 semapv:UnspecifiedMatching -OMIM:186982 TCP11 skos:exactMatch hgnc:TCP11 semapv:UnspecifiedMatching +OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:11658 semapv:UnspecifiedMatching +OMIM:186982 TCP11 skos:exactMatch hgnc.symbol:TCP11 semapv:UnspecifiedMatching OMIM:186982 TCP11 skos:exactMatch ncbigene:6954 semapv:UnspecifiedMatching -OMIM:186990 CD2 skos:exactMatch hgnc:CD2 semapv:UnspecifiedMatching +OMIM:186990 CD2 skos:exactMatch hgnc.symbol:1639 semapv:UnspecifiedMatching +OMIM:186990 CD2 skos:exactMatch hgnc.symbol:CD2 semapv:UnspecifiedMatching OMIM:186990 CD2 skos:exactMatch ncbigene:914 semapv:UnspecifiedMatching -OMIM:187011 CCL5 skos:exactMatch hgnc:CCL5 semapv:UnspecifiedMatching +OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:10632 semapv:UnspecifiedMatching +OMIM:187011 CCL5 skos:exactMatch hgnc.symbol:CCL5 semapv:UnspecifiedMatching OMIM:187011 CCL5 skos:exactMatch ncbigene:6352 semapv:UnspecifiedMatching -OMIM:187020 TCP10 skos:exactMatch hgnc:TCP10L3 semapv:UnspecifiedMatching +OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:11656 semapv:UnspecifiedMatching +OMIM:187020 TCP10 skos:exactMatch hgnc.symbol:TCP10L3 semapv:UnspecifiedMatching OMIM:187020 TCP10 skos:exactMatch ncbigene:6953 semapv:UnspecifiedMatching -OMIM:187040 TAL1 skos:exactMatch hgnc:TAL1 semapv:UnspecifiedMatching +OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:11556 semapv:UnspecifiedMatching +OMIM:187040 TAL1 skos:exactMatch hgnc.symbol:TAL1 semapv:UnspecifiedMatching OMIM:187040 TAL1 skos:exactMatch ncbigene:6886 semapv:UnspecifiedMatching -OMIM:187270 TERT skos:exactMatch hgnc:TERT semapv:UnspecifiedMatching +OMIM:187270 TERT skos:exactMatch hgnc.symbol:11730 semapv:UnspecifiedMatching +OMIM:187270 TERT skos:exactMatch hgnc.symbol:TERT semapv:UnspecifiedMatching OMIM:187270 TERT skos:exactMatch ncbigene:7015 semapv:UnspecifiedMatching -OMIM:187280 POLR3D skos:exactMatch hgnc:POLR3D semapv:UnspecifiedMatching +OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:1080 semapv:UnspecifiedMatching +OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:POLR3D semapv:UnspecifiedMatching OMIM:187280 POLR3D skos:exactMatch ncbigene:661 semapv:UnspecifiedMatching -OMIM:187380 TNC skos:exactMatch hgnc:TNC semapv:UnspecifiedMatching +OMIM:187380 TNC skos:exactMatch hgnc.symbol:5318 semapv:UnspecifiedMatching +OMIM:187380 TNC skos:exactMatch hgnc.symbol:TNC semapv:UnspecifiedMatching OMIM:187380 TNC skos:exactMatch ncbigene:3371 semapv:UnspecifiedMatching -OMIM:187395 TDGF1 skos:exactMatch hgnc:CRIPTO semapv:UnspecifiedMatching +OMIM:187395 TDGF1 skos:exactMatch hgnc.symbol:CRIPTO semapv:UnspecifiedMatching OMIM:187395 TDGF1 skos:exactMatch ncbigene:6997 semapv:UnspecifiedMatching -OMIM:187410 DNTT skos:exactMatch hgnc:DNTT semapv:UnspecifiedMatching +OMIM:187410 DNTT skos:exactMatch hgnc.symbol:2983 semapv:UnspecifiedMatching +OMIM:187410 DNTT skos:exactMatch hgnc.symbol:DNTT semapv:UnspecifiedMatching OMIM:187410 DNTT skos:exactMatch ncbigene:1791 semapv:UnspecifiedMatching -OMIM:187430 CRISP2 skos:exactMatch hgnc:CRISP2 semapv:UnspecifiedMatching +OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:12024 semapv:UnspecifiedMatching +OMIM:187430 CRISP2 skos:exactMatch hgnc.symbol:CRISP2 semapv:UnspecifiedMatching OMIM:187430 CRISP2 skos:exactMatch ncbigene:7180 semapv:UnspecifiedMatching -OMIM:187520 CLEC3B skos:exactMatch hgnc:CLEC3B semapv:UnspecifiedMatching +OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:11891 semapv:UnspecifiedMatching +OMIM:187520 CLEC3B skos:exactMatch hgnc.symbol:CLEC3B semapv:UnspecifiedMatching OMIM:187520 CLEC3B skos:exactMatch ncbigene:7123 semapv:UnspecifiedMatching -OMIM:187680 TPMT skos:exactMatch hgnc:TPMT semapv:UnspecifiedMatching +OMIM:187680 TPMT skos:exactMatch hgnc.symbol:12014 semapv:UnspecifiedMatching +OMIM:187680 TPMT skos:exactMatch hgnc.symbol:TPMT semapv:UnspecifiedMatching OMIM:187680 TPMT skos:exactMatch ncbigene:7172 semapv:UnspecifiedMatching -OMIM:187700 TXN skos:exactMatch hgnc:TXN semapv:UnspecifiedMatching +OMIM:187700 TXN skos:exactMatch hgnc.symbol:12435 semapv:UnspecifiedMatching +OMIM:187700 TXN skos:exactMatch hgnc.symbol:TXN semapv:UnspecifiedMatching OMIM:187700 TXN skos:exactMatch ncbigene:7295 semapv:UnspecifiedMatching -OMIM:187790 TARS1 skos:exactMatch hgnc:TARS1 semapv:UnspecifiedMatching +OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:11572 semapv:UnspecifiedMatching +OMIM:187790 TARS1 skos:exactMatch hgnc.symbol:TARS1 semapv:UnspecifiedMatching OMIM:187790 TARS1 skos:exactMatch ncbigene:6897 semapv:UnspecifiedMatching -OMIM:187930 F2R skos:exactMatch hgnc:F2R semapv:UnspecifiedMatching +OMIM:187930 F2R skos:exactMatch hgnc.symbol:3537 semapv:UnspecifiedMatching +OMIM:187930 F2R skos:exactMatch hgnc.symbol:F2R semapv:UnspecifiedMatching OMIM:187930 F2R skos:exactMatch ncbigene:2149 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching +OMIM:187950 thrombocythemia 1 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching OMIM:187950 thrombocythemia 1 skos:exactMatch UMLS:C3277671 semapv:UnspecifiedMatching -OMIM:187950 thrombocythemia 1 skos:exactMatch orphanet.ordo:3318 semapv:UnspecifiedMatching -OMIM:187950 thrombocythemia 1 skos:exactMatch orphanet.ordo:71493 semapv:UnspecifiedMatching -OMIM:188035 PPBPL1 skos:exactMatch hgnc:PPBPP1 semapv:UnspecifiedMatching +OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:9241 semapv:UnspecifiedMatching +OMIM:188035 PPBPL1 skos:exactMatch hgnc.symbol:PPBPP1 semapv:UnspecifiedMatching OMIM:188035 PPBPL1 skos:exactMatch ncbigene:728045 semapv:UnspecifiedMatching -OMIM:188040 THBD skos:exactMatch hgnc:THBD semapv:UnspecifiedMatching +OMIM:188040 THBD skos:exactMatch hgnc.symbol:11784 semapv:UnspecifiedMatching +OMIM:188040 THBD skos:exactMatch hgnc.symbol:THBD semapv:UnspecifiedMatching OMIM:188040 THBD skos:exactMatch ncbigene:7056 semapv:UnspecifiedMatching -OMIM:188060 THBS1 skos:exactMatch hgnc:THBS1 semapv:UnspecifiedMatching +OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:11785 semapv:UnspecifiedMatching +OMIM:188060 THBS1 skos:exactMatch hgnc.symbol:THBS1 semapv:UnspecifiedMatching OMIM:188060 THBS1 skos:exactMatch ncbigene:7057 semapv:UnspecifiedMatching -OMIM:188061 THBS2 skos:exactMatch hgnc:THBS2 semapv:UnspecifiedMatching +OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:11786 semapv:UnspecifiedMatching +OMIM:188061 THBS2 skos:exactMatch hgnc.symbol:THBS2 semapv:UnspecifiedMatching OMIM:188061 THBS2 skos:exactMatch ncbigene:7058 semapv:UnspecifiedMatching -OMIM:188062 THBS3 skos:exactMatch hgnc:THBS3 semapv:UnspecifiedMatching +OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:11787 semapv:UnspecifiedMatching +OMIM:188062 THBS3 skos:exactMatch hgnc.symbol:THBS3 semapv:UnspecifiedMatching OMIM:188062 THBS3 skos:exactMatch ncbigene:7059 semapv:UnspecifiedMatching -OMIM:188070 TBXA2R skos:exactMatch hgnc:TBXA2R semapv:UnspecifiedMatching +OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:11608 semapv:UnspecifiedMatching +OMIM:188070 TBXA2R skos:exactMatch hgnc.symbol:TBXA2R semapv:UnspecifiedMatching OMIM:188070 TBXA2R skos:exactMatch ncbigene:6915 semapv:UnspecifiedMatching -OMIM:188230 THY1 skos:exactMatch hgnc:THY1 semapv:UnspecifiedMatching +OMIM:188230 THY1 skos:exactMatch hgnc.symbol:11801 semapv:UnspecifiedMatching +OMIM:188230 THY1 skos:exactMatch hgnc.symbol:THY1 semapv:UnspecifiedMatching OMIM:188230 THY1 skos:exactMatch ncbigene:7070 semapv:UnspecifiedMatching -OMIM:188250 TK2 skos:exactMatch hgnc:TK2 semapv:UnspecifiedMatching +OMIM:188250 TK2 skos:exactMatch hgnc.symbol:11831 semapv:UnspecifiedMatching +OMIM:188250 TK2 skos:exactMatch hgnc.symbol:TK2 semapv:UnspecifiedMatching OMIM:188250 TK2 skos:exactMatch ncbigene:7084 semapv:UnspecifiedMatching -OMIM:188300 TK1 skos:exactMatch hgnc:TK1 semapv:UnspecifiedMatching +OMIM:188300 TK1 skos:exactMatch hgnc.symbol:11830 semapv:UnspecifiedMatching +OMIM:188300 TK1 skos:exactMatch hgnc.symbol:TK1 semapv:UnspecifiedMatching OMIM:188300 TK1 skos:exactMatch ncbigene:7083 semapv:UnspecifiedMatching -OMIM:188340 CD1C skos:exactMatch hgnc:CD1C semapv:UnspecifiedMatching +OMIM:188340 CD1C skos:exactMatch hgnc.symbol:1636 semapv:UnspecifiedMatching +OMIM:188340 CD1C skos:exactMatch hgnc.symbol:CD1C semapv:UnspecifiedMatching OMIM:188340 CD1C skos:exactMatch ncbigene:911 semapv:UnspecifiedMatching -OMIM:188345 DTYMK skos:exactMatch hgnc:DTYMK semapv:UnspecifiedMatching +OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:3061 semapv:UnspecifiedMatching +OMIM:188345 DTYMK skos:exactMatch hgnc.symbol:DTYMK semapv:UnspecifiedMatching OMIM:188345 DTYMK skos:exactMatch ncbigene:1841 semapv:UnspecifiedMatching -OMIM:188350 TYMS skos:exactMatch hgnc:TYMS semapv:UnspecifiedMatching +OMIM:188350 TYMS skos:exactMatch hgnc.symbol:12441 semapv:UnspecifiedMatching +OMIM:188350 TYMS skos:exactMatch hgnc.symbol:TYMS semapv:UnspecifiedMatching OMIM:188350 TYMS skos:exactMatch ncbigene:7298 semapv:UnspecifiedMatching -OMIM:188360 CD1B skos:exactMatch hgnc:CD1B semapv:UnspecifiedMatching +OMIM:188360 CD1B skos:exactMatch hgnc.symbol:1635 semapv:UnspecifiedMatching +OMIM:188360 CD1B skos:exactMatch hgnc.symbol:CD1B semapv:UnspecifiedMatching OMIM:188360 CD1B skos:exactMatch ncbigene:910 semapv:UnspecifiedMatching -OMIM:188370 CD1A skos:exactMatch hgnc:CD1A semapv:UnspecifiedMatching +OMIM:188370 CD1A skos:exactMatch hgnc.symbol:1634 semapv:UnspecifiedMatching +OMIM:188370 CD1A skos:exactMatch hgnc.symbol:CD1A semapv:UnspecifiedMatching OMIM:188370 CD1A skos:exactMatch ncbigene:909 semapv:UnspecifiedMatching -OMIM:188380 TMPO skos:exactMatch hgnc:TMPO semapv:UnspecifiedMatching +OMIM:188380 TMPO skos:exactMatch hgnc.symbol:11875 semapv:UnspecifiedMatching +OMIM:188380 TMPO skos:exactMatch hgnc.symbol:TMPO semapv:UnspecifiedMatching OMIM:188380 TMPO skos:exactMatch ncbigene:7112 semapv:UnspecifiedMatching -OMIM:188390 PTMA skos:exactMatch hgnc:PTMA semapv:UnspecifiedMatching +OMIM:188390 PTMA skos:exactMatch hgnc.symbol:9623 semapv:UnspecifiedMatching +OMIM:188390 PTMA skos:exactMatch hgnc.symbol:PTMA semapv:UnspecifiedMatching OMIM:188390 PTMA skos:exactMatch ncbigene:5757 semapv:UnspecifiedMatching -OMIM:188399 TMSB10 skos:exactMatch hgnc:TMSB10 semapv:UnspecifiedMatching +OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:11879 semapv:UnspecifiedMatching +OMIM:188399 TMSB10 skos:exactMatch hgnc.symbol:TMSB10 semapv:UnspecifiedMatching OMIM:188399 TMSB10 skos:exactMatch ncbigene:9168 semapv:UnspecifiedMatching +OMIM:188400 digeorge syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching OMIM:188400 digeorge syndrome skos:exactMatch UMLS:C1414025 semapv:UnspecifiedMatching -OMIM:188400 digeorge syndrome skos:exactMatch orphanet.ordo:567 semapv:UnspecifiedMatching -OMIM:188410 CD1D skos:exactMatch hgnc:CD1D semapv:UnspecifiedMatching +OMIM:188410 CD1D skos:exactMatch hgnc.symbol:1637 semapv:UnspecifiedMatching +OMIM:188410 CD1D skos:exactMatch hgnc.symbol:CD1D semapv:UnspecifiedMatching OMIM:188410 CD1D skos:exactMatch ncbigene:912 semapv:UnspecifiedMatching -OMIM:188411 CD1E skos:exactMatch hgnc:CD1E semapv:UnspecifiedMatching +OMIM:188411 CD1E skos:exactMatch hgnc.symbol:1638 semapv:UnspecifiedMatching +OMIM:188411 CD1E skos:exactMatch hgnc.symbol:CD1E semapv:UnspecifiedMatching OMIM:188411 CD1E skos:exactMatch ncbigene:913 semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C0342194 semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C1420709 semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C1842444 semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:188450 TG skos:exactMatch hgnc:TG semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch hgnc.symbol:11764 semapv:UnspecifiedMatching +OMIM:188450 TG skos:exactMatch hgnc.symbol:TG semapv:UnspecifiedMatching OMIM:188450 TG skos:exactMatch ncbigene:7038 semapv:UnspecifiedMatching -OMIM:188540 TSHB skos:exactMatch hgnc:TSHB semapv:UnspecifiedMatching +OMIM:188540 TSHB skos:exactMatch hgnc.symbol:12372 semapv:UnspecifiedMatching +OMIM:188540 TSHB skos:exactMatch hgnc.symbol:TSHB semapv:UnspecifiedMatching OMIM:188540 TSHB skos:exactMatch ncbigene:7252 semapv:UnspecifiedMatching -OMIM:188545 TRHR skos:exactMatch hgnc:TRHR semapv:UnspecifiedMatching +OMIM:188545 TRHR skos:exactMatch hgnc.symbol:12299 semapv:UnspecifiedMatching +OMIM:188545 TRHR skos:exactMatch hgnc.symbol:TRHR semapv:UnspecifiedMatching OMIM:188545 TRHR skos:exactMatch ncbigene:7201 semapv:UnspecifiedMatching -OMIM:188595 TEF skos:exactMatch hgnc:TEF semapv:UnspecifiedMatching +OMIM:188595 TEF skos:exactMatch hgnc.symbol:11722 semapv:UnspecifiedMatching +OMIM:188595 TEF skos:exactMatch hgnc.symbol:TEF semapv:UnspecifiedMatching OMIM:188595 TEF skos:exactMatch ncbigene:7008 semapv:UnspecifiedMatching -OMIM:188825 TIMP2 skos:exactMatch hgnc:TIMP2 semapv:UnspecifiedMatching +OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:11821 semapv:UnspecifiedMatching +OMIM:188825 TIMP2 skos:exactMatch hgnc.symbol:TIMP2 semapv:UnspecifiedMatching OMIM:188825 TIMP2 skos:exactMatch ncbigene:7077 semapv:UnspecifiedMatching -OMIM:188826 TIMP3 skos:exactMatch hgnc:TIMP3 semapv:UnspecifiedMatching +OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:11822 semapv:UnspecifiedMatching +OMIM:188826 TIMP3 skos:exactMatch hgnc.symbol:TIMP3 semapv:UnspecifiedMatching OMIM:188826 TIMP3 skos:exactMatch ncbigene:7078 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C0406810 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C1418907 semapv:UnspecifiedMatching @@ -5959,107 +8049,151 @@ OMIM:188830 PRKAR1A skos:exactMatch UMLS:C2931787 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016392 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016393 semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch UMLS:C4016394 semapv:UnspecifiedMatching -OMIM:188830 PRKAR1A skos:exactMatch hgnc:PRKAR1A semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:9388 semapv:UnspecifiedMatching +OMIM:188830 PRKAR1A skos:exactMatch hgnc.symbol:PRKAR1A semapv:UnspecifiedMatching OMIM:188830 PRKAR1A skos:exactMatch ncbigene:5573 semapv:UnspecifiedMatching -OMIM:188840 TTN skos:exactMatch hgnc:TTN semapv:UnspecifiedMatching +OMIM:188840 TTN skos:exactMatch hgnc.symbol:12403 semapv:UnspecifiedMatching +OMIM:188840 TTN skos:exactMatch hgnc.symbol:TTN semapv:UnspecifiedMatching OMIM:188840 TTN skos:exactMatch ncbigene:7273 semapv:UnspecifiedMatching -OMIM:188855 GNLY skos:exactMatch hgnc:GNLY semapv:UnspecifiedMatching +OMIM:188855 GNLY skos:exactMatch hgnc.symbol:4414 semapv:UnspecifiedMatching +OMIM:188855 GNLY skos:exactMatch hgnc.symbol:GNLY semapv:UnspecifiedMatching OMIM:188855 GNLY skos:exactMatch ncbigene:10578 semapv:UnspecifiedMatching -OMIM:188860 MAL skos:exactMatch hgnc:MAL semapv:UnspecifiedMatching +OMIM:188860 MAL skos:exactMatch hgnc.symbol:6817 semapv:UnspecifiedMatching +OMIM:188860 MAL skos:exactMatch hgnc.symbol:MAL semapv:UnspecifiedMatching OMIM:188860 MAL skos:exactMatch ncbigene:4118 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch UMLS:C5239945 semapv:UnspecifiedMatching -OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc:TRN-GTT2-7 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:54714 semapv:UnspecifiedMatching +OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:TRN-GTT2-7 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch ncbigene:7214 semapv:UnspecifiedMatching -OMIM:189889 TFCP2 skos:exactMatch hgnc:TFCP2 semapv:UnspecifiedMatching +OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:11748 semapv:UnspecifiedMatching +OMIM:189889 TFCP2 skos:exactMatch hgnc.symbol:TFCP2 semapv:UnspecifiedMatching OMIM:189889 TFCP2 skos:exactMatch ncbigene:7024 semapv:UnspecifiedMatching -OMIM:189901 TCF9 skos:exactMatch hgnc:GCFC2 semapv:UnspecifiedMatching +OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:1317 semapv:UnspecifiedMatching +OMIM:189901 TCF9 skos:exactMatch hgnc.symbol:GCFC2 semapv:UnspecifiedMatching OMIM:189901 TCF9 skos:exactMatch ncbigene:6936 semapv:UnspecifiedMatching -OMIM:189902 TFDP1 skos:exactMatch hgnc:TFDP1 semapv:UnspecifiedMatching +OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:11749 semapv:UnspecifiedMatching +OMIM:189902 TFDP1 skos:exactMatch hgnc.symbol:TFDP1 semapv:UnspecifiedMatching OMIM:189902 TFDP1 skos:exactMatch ncbigene:7027 semapv:UnspecifiedMatching -OMIM:189903 NFYA skos:exactMatch hgnc:NFYA semapv:UnspecifiedMatching +OMIM:189903 NFYA skos:exactMatch hgnc.symbol:7804 semapv:UnspecifiedMatching +OMIM:189903 NFYA skos:exactMatch hgnc.symbol:NFYA semapv:UnspecifiedMatching OMIM:189903 NFYA skos:exactMatch ncbigene:4800 semapv:UnspecifiedMatching -OMIM:189904 NFYB skos:exactMatch hgnc:NFYB semapv:UnspecifiedMatching +OMIM:189904 NFYB skos:exactMatch hgnc.symbol:7805 semapv:UnspecifiedMatching +OMIM:189904 NFYB skos:exactMatch hgnc.symbol:NFYB semapv:UnspecifiedMatching OMIM:189904 NFYB skos:exactMatch ncbigene:4801 semapv:UnspecifiedMatching -OMIM:189905 TCN1 skos:exactMatch hgnc:TCN1 semapv:UnspecifiedMatching +OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:11652 semapv:UnspecifiedMatching +OMIM:189905 TCN1 skos:exactMatch hgnc.symbol:TCN1 semapv:UnspecifiedMatching OMIM:189905 TCN1 skos:exactMatch ncbigene:6947 semapv:UnspecifiedMatching -OMIM:189906 SP1 skos:exactMatch hgnc:SP1 semapv:UnspecifiedMatching +OMIM:189906 SP1 skos:exactMatch hgnc.symbol:11205 semapv:UnspecifiedMatching +OMIM:189906 SP1 skos:exactMatch hgnc.symbol:SP1 semapv:UnspecifiedMatching OMIM:189906 SP1 skos:exactMatch ncbigene:6667 semapv:UnspecifiedMatching -OMIM:189907 HNF1B skos:exactMatch hgnc:HNF1B semapv:UnspecifiedMatching +OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:11630 semapv:UnspecifiedMatching +OMIM:189907 HNF1B skos:exactMatch hgnc.symbol:HNF1B semapv:UnspecifiedMatching OMIM:189907 HNF1B skos:exactMatch ncbigene:6928 semapv:UnspecifiedMatching -OMIM:189908 TCF7 skos:exactMatch hgnc:TCF7 semapv:UnspecifiedMatching +OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:11639 semapv:UnspecifiedMatching +OMIM:189908 TCF7 skos:exactMatch hgnc.symbol:TCF7 semapv:UnspecifiedMatching OMIM:189908 TCF7 skos:exactMatch ncbigene:6932 semapv:UnspecifiedMatching -OMIM:189909 ZEB1 skos:exactMatch hgnc:ZEB1 semapv:UnspecifiedMatching +OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:11642 semapv:UnspecifiedMatching +OMIM:189909 ZEB1 skos:exactMatch hgnc.symbol:ZEB1 semapv:UnspecifiedMatching OMIM:189909 ZEB1 skos:exactMatch ncbigene:6935 semapv:UnspecifiedMatching -OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc:TRS-AGA2-3 semapv:UnspecifiedMatching +OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:16293 semapv:UnspecifiedMatching +OMIM:189910 TRS-AGA2-3 skos:exactMatch hgnc.symbol:TRS-AGA2-3 semapv:UnspecifiedMatching OMIM:189910 TRS-AGA2-3 skos:exactMatch ncbigene:23437 semapv:UnspecifiedMatching OMIM:189911 TRG-CCC1-1 skos:exactMatch UMLS:C3891582 semapv:UnspecifiedMatching -OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc:TRG-CCC1-1 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:38580 semapv:UnspecifiedMatching +OMIM:189911 TRG-CCC1-1 skos:exactMatch hgnc.symbol:TRG-CCC1-1 semapv:UnspecifiedMatching OMIM:189911 TRG-CCC1-1 skos:exactMatch ncbigene:7195 semapv:UnspecifiedMatching OMIM:189912 TRP-TGG3-1 skos:exactMatch UMLS:C1421167 semapv:UnspecifiedMatching -OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc:TRP-TGG3-1 semapv:UnspecifiedMatching +OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:12332 semapv:UnspecifiedMatching +OMIM:189912 TRP-TGG3-1 skos:exactMatch hgnc.symbol:TRP-TGG3-1 semapv:UnspecifiedMatching OMIM:189912 TRP-TGG3-1 skos:exactMatch ncbigene:7219 semapv:UnspecifiedMatching -OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc:TRT-TGT6-1 semapv:UnspecifiedMatching +OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:12350 semapv:UnspecifiedMatching +OMIM:189913 TRT-TGT6-1 skos:exactMatch hgnc.symbol:TRT-TGT6-1 semapv:UnspecifiedMatching OMIM:189913 TRT-TGT6-1 skos:exactMatch ncbigene:7236 semapv:UnspecifiedMatching OMIM:189918 TRK-TTT3-5 skos:exactMatch UMLS:C1421153 semapv:UnspecifiedMatching -OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc:TRK-TTT3-5 semapv:UnspecifiedMatching +OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:12314 semapv:UnspecifiedMatching +OMIM:189918 TRK-TTT3-5 skos:exactMatch hgnc.symbol:TRK-TTT3-5 semapv:UnspecifiedMatching OMIM:189918 TRK-TTT3-5 skos:exactMatch ncbigene:7206 semapv:UnspecifiedMatching -OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc:TRQ-CTG1-5 semapv:UnspecifiedMatching +OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:12341 semapv:UnspecifiedMatching +OMIM:189919 TRQ-CTG1-5 skos:exactMatch hgnc.symbol:TRQ-CTG1-5 semapv:UnspecifiedMatching OMIM:189919 TRQ-CTG1-5 skos:exactMatch ncbigene:7228 semapv:UnspecifiedMatching OMIM:189920 TRL-TAG1-1 skos:exactMatch UMLS:C1421155 semapv:UnspecifiedMatching -OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc:TRL-TAG1-1 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:12316 semapv:UnspecifiedMatching +OMIM:189920 TRL-TAG1-1 skos:exactMatch hgnc.symbol:TRL-TAG1-1 semapv:UnspecifiedMatching OMIM:189920 TRL-TAG1-1 skos:exactMatch ncbigene:7208 semapv:UnspecifiedMatching -OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc:TRV-AAC1-4 semapv:UnspecifiedMatching +OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:12353 semapv:UnspecifiedMatching +OMIM:189921 TRV-AAC1-4 skos:exactMatch hgnc.symbol:TRV-AAC1-4 semapv:UnspecifiedMatching OMIM:189921 TRV-AAC1-4 skos:exactMatch ncbigene:7239 semapv:UnspecifiedMatching -OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc:TRQ-TTG1-1 semapv:UnspecifiedMatching +OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:12342 semapv:UnspecifiedMatching +OMIM:189923 TRQ-TTG1-1 skos:exactMatch hgnc.symbol:TRQ-TTG1-1 semapv:UnspecifiedMatching OMIM:189923 TRQ-TTG1-1 skos:exactMatch ncbigene:7229 semapv:UnspecifiedMatching OMIM:189930 TRP-AGG2-5 skos:exactMatch UMLS:C1421165 semapv:UnspecifiedMatching -OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc:TRP-AGG2-5 semapv:UnspecifiedMatching +OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:12330 semapv:UnspecifiedMatching +OMIM:189930 TRP-AGG2-5 skos:exactMatch hgnc.symbol:TRP-AGG2-5 semapv:UnspecifiedMatching OMIM:189930 TRP-AGG2-5 skos:exactMatch ncbigene:7217 semapv:UnspecifiedMatching OMIM:189931 TRP-AGG2-6 skos:exactMatch UMLS:C1421166 semapv:UnspecifiedMatching -OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc:TRP-AGG2-6 semapv:UnspecifiedMatching +OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:12331 semapv:UnspecifiedMatching +OMIM:189931 TRP-AGG2-6 skos:exactMatch hgnc.symbol:TRP-AGG2-6 semapv:UnspecifiedMatching OMIM:189931 TRP-AGG2-6 skos:exactMatch ncbigene:7218 semapv:UnspecifiedMatching OMIM:189932 TRL-AAG2-3 skos:exactMatch UMLS:C1421154 semapv:UnspecifiedMatching -OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc:TRL-AAG2-3 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:12315 semapv:UnspecifiedMatching +OMIM:189932 TRL-AAG2-3 skos:exactMatch hgnc.symbol:TRL-AAG2-3 semapv:UnspecifiedMatching OMIM:189932 TRL-AAG2-3 skos:exactMatch ncbigene:7207 semapv:UnspecifiedMatching -OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc:TRT-TGT3-1 semapv:UnspecifiedMatching +OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:12351 semapv:UnspecifiedMatching +OMIM:189933 TRT-TGT3-1 skos:exactMatch hgnc.symbol:TRT-TGT3-1 semapv:UnspecifiedMatching OMIM:189933 TRT-TGT3-1 skos:exactMatch ncbigene:7237 semapv:UnspecifiedMatching -OMIM:189940 TPR skos:exactMatch hgnc:TPR semapv:UnspecifiedMatching +OMIM:189940 TPR skos:exactMatch hgnc.symbol:12017 semapv:UnspecifiedMatching +OMIM:189940 TPR skos:exactMatch hgnc.symbol:TPR semapv:UnspecifiedMatching OMIM:189940 TPR skos:exactMatch ncbigene:7175 semapv:UnspecifiedMatching -OMIM:189962 GTF2E1 skos:exactMatch hgnc:GTF2E1 semapv:UnspecifiedMatching +OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:4650 semapv:UnspecifiedMatching +OMIM:189962 GTF2E1 skos:exactMatch hgnc.symbol:GTF2E1 semapv:UnspecifiedMatching OMIM:189962 GTF2E1 skos:exactMatch ncbigene:2960 semapv:UnspecifiedMatching -OMIM:189963 GTF2B skos:exactMatch hgnc:GTF2B semapv:UnspecifiedMatching +OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:4648 semapv:UnspecifiedMatching +OMIM:189963 GTF2B skos:exactMatch hgnc.symbol:GTF2B semapv:UnspecifiedMatching OMIM:189963 GTF2B skos:exactMatch ncbigene:2959 semapv:UnspecifiedMatching -OMIM:189964 GTF2E2 skos:exactMatch hgnc:GTF2E2 semapv:UnspecifiedMatching +OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:4651 semapv:UnspecifiedMatching +OMIM:189964 GTF2E2 skos:exactMatch hgnc.symbol:GTF2E2 semapv:UnspecifiedMatching OMIM:189964 GTF2E2 skos:exactMatch ncbigene:2961 semapv:UnspecifiedMatching -OMIM:189965 CEBPB skos:exactMatch hgnc:CEBPB semapv:UnspecifiedMatching +OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:1834 semapv:UnspecifiedMatching +OMIM:189965 CEBPB skos:exactMatch hgnc.symbol:CEBPB semapv:UnspecifiedMatching OMIM:189965 CEBPB skos:exactMatch ncbigene:1051 semapv:UnspecifiedMatching OMIM:189967 TEAD1 skos:exactMatch UMLS:C1420679 semapv:UnspecifiedMatching OMIM:189967 TEAD1 skos:exactMatch UMLS:C1862382 semapv:UnspecifiedMatching -OMIM:189967 TEAD1 skos:exactMatch hgnc:TEAD1 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch hgnc.symbol:11714 semapv:UnspecifiedMatching +OMIM:189967 TEAD1 skos:exactMatch hgnc.symbol:TEAD1 semapv:UnspecifiedMatching OMIM:189967 TEAD1 skos:exactMatch ncbigene:7003 semapv:UnspecifiedMatching -OMIM:189968 GTF2F1 skos:exactMatch hgnc:GTF2F1 semapv:UnspecifiedMatching +OMIM:189968 GTF2F1 skos:exactMatch hgnc.symbol:4652 semapv:UnspecifiedMatching +OMIM:189968 GTF2F1 skos:exactMatch hgnc.symbol:GTF2F1 semapv:UnspecifiedMatching OMIM:189968 GTF2F1 skos:exactMatch ncbigene:2962 semapv:UnspecifiedMatching -OMIM:189969 GTF2F2 skos:exactMatch hgnc:GTF2F2 semapv:UnspecifiedMatching +OMIM:189969 GTF2F2 skos:exactMatch hgnc.symbol:4653 semapv:UnspecifiedMatching +OMIM:189969 GTF2F2 skos:exactMatch hgnc.symbol:GTF2F2 semapv:UnspecifiedMatching OMIM:189969 GTF2F2 skos:exactMatch ncbigene:2963 semapv:UnspecifiedMatching -OMIM:189970 GNGT1 skos:exactMatch hgnc:GNGT1 semapv:UnspecifiedMatching +OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:4411 semapv:UnspecifiedMatching +OMIM:189970 GNGT1 skos:exactMatch hgnc.symbol:GNGT1 semapv:UnspecifiedMatching OMIM:189970 GNGT1 skos:exactMatch ncbigene:2792 semapv:UnspecifiedMatching -OMIM:189971 E2F1 skos:exactMatch hgnc:E2F1 semapv:UnspecifiedMatching +OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:3113 semapv:UnspecifiedMatching +OMIM:189971 E2F1 skos:exactMatch hgnc.symbol:E2F1 semapv:UnspecifiedMatching OMIM:189971 E2F1 skos:exactMatch ncbigene:1869 semapv:UnspecifiedMatching -OMIM:189972 GTF2H1 skos:exactMatch hgnc:GTF2H1 semapv:UnspecifiedMatching +OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:4655 semapv:UnspecifiedMatching +OMIM:189972 GTF2H1 skos:exactMatch hgnc.symbol:GTF2H1 semapv:UnspecifiedMatching OMIM:189972 GTF2H1 skos:exactMatch ncbigene:2965 semapv:UnspecifiedMatching -OMIM:189973 ELF1 skos:exactMatch hgnc:ELF1 semapv:UnspecifiedMatching +OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:3316 semapv:UnspecifiedMatching +OMIM:189973 ELF1 skos:exactMatch hgnc.symbol:ELF1 semapv:UnspecifiedMatching OMIM:189973 ELF1 skos:exactMatch ncbigene:1997 semapv:UnspecifiedMatching OMIM:189980 ABL1 skos:exactMatch UMLS:C1412097 semapv:UnspecifiedMatching OMIM:189980 ABL1 skos:exactMatch UMLS:C4016396 semapv:UnspecifiedMatching OMIM:189980 ABL1 skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching OMIM:189980 ABL1 skos:exactMatch UMLS:C5193173 semapv:UnspecifiedMatching -OMIM:189980 ABL1 skos:exactMatch hgnc:ABL1 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch hgnc.symbol:76 semapv:UnspecifiedMatching +OMIM:189980 ABL1 skos:exactMatch hgnc.symbol:ABL1 semapv:UnspecifiedMatching OMIM:189980 ABL1 skos:exactMatch ncbigene:25 semapv:UnspecifiedMatching -OMIM:189990 MYB skos:exactMatch hgnc:MYB semapv:UnspecifiedMatching +OMIM:189990 MYB skos:exactMatch hgnc.symbol:7545 semapv:UnspecifiedMatching +OMIM:189990 MYB skos:exactMatch hgnc.symbol:MYB semapv:UnspecifiedMatching OMIM:189990 MYB skos:exactMatch ncbigene:4602 semapv:UnspecifiedMatching -OMIM:190000 TF skos:exactMatch hgnc:TF semapv:UnspecifiedMatching +OMIM:190000 TF skos:exactMatch hgnc.symbol:11740 semapv:UnspecifiedMatching +OMIM:190000 TF skos:exactMatch hgnc.symbol:TF semapv:UnspecifiedMatching OMIM:190000 TF skos:exactMatch ncbigene:7018 semapv:UnspecifiedMatching -OMIM:190010 TFRC skos:exactMatch hgnc:TFRC semapv:UnspecifiedMatching +OMIM:190010 TFRC skos:exactMatch hgnc.symbol:11763 semapv:UnspecifiedMatching +OMIM:190010 TFRC skos:exactMatch hgnc.symbol:TFRC semapv:UnspecifiedMatching OMIM:190010 TFRC skos:exactMatch ncbigene:7037 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C0079471 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching @@ -6075,13 +8209,17 @@ OMIM:190020 HRAS skos:exactMatch UMLS:C4017653 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C4225656 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C4225657 semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch UMLS:C4479707 semapv:UnspecifiedMatching -OMIM:190020 HRAS skos:exactMatch hgnc:HRAS semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch hgnc.symbol:5173 semapv:UnspecifiedMatching +OMIM:190020 HRAS skos:exactMatch hgnc.symbol:HRAS semapv:UnspecifiedMatching OMIM:190020 HRAS skos:exactMatch ncbigene:3265 semapv:UnspecifiedMatching -OMIM:190030 FES skos:exactMatch hgnc:FES semapv:UnspecifiedMatching +OMIM:190030 FES skos:exactMatch hgnc.symbol:3657 semapv:UnspecifiedMatching +OMIM:190030 FES skos:exactMatch hgnc.symbol:FES semapv:UnspecifiedMatching OMIM:190030 FES skos:exactMatch ncbigene:2242 semapv:UnspecifiedMatching -OMIM:190040 PDGFB skos:exactMatch hgnc:PDGFB semapv:UnspecifiedMatching +OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:8800 semapv:UnspecifiedMatching +OMIM:190040 PDGFB skos:exactMatch hgnc.symbol:PDGFB semapv:UnspecifiedMatching OMIM:190040 PDGFB skos:exactMatch ncbigene:5155 semapv:UnspecifiedMatching -OMIM:190060 MOS skos:exactMatch hgnc:MOS semapv:UnspecifiedMatching +OMIM:190060 MOS skos:exactMatch hgnc.symbol:7199 semapv:UnspecifiedMatching +OMIM:190060 MOS skos:exactMatch hgnc.symbol:MOS semapv:UnspecifiedMatching OMIM:190060 MOS skos:exactMatch ncbigene:4342 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C1537502 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching @@ -6102,140 +8240,189 @@ OMIM:190070 KRAS skos:exactMatch UMLS:C4016404 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4016405 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C4693979 semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch UMLS:C5193174 semapv:UnspecifiedMatching -OMIM:190070 KRAS skos:exactMatch hgnc:KRAS semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch hgnc.symbol:6407 semapv:UnspecifiedMatching +OMIM:190070 KRAS skos:exactMatch hgnc.symbol:KRAS semapv:UnspecifiedMatching OMIM:190070 KRAS skos:exactMatch ncbigene:3845 semapv:UnspecifiedMatching OMIM:190080 MYC skos:exactMatch UMLS:C0086661 semapv:UnspecifiedMatching OMIM:190080 MYC skos:exactMatch UMLS:C5193175 semapv:UnspecifiedMatching -OMIM:190080 MYC skos:exactMatch hgnc:MYC semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch hgnc.symbol:7553 semapv:UnspecifiedMatching +OMIM:190080 MYC skos:exactMatch hgnc.symbol:MYC semapv:UnspecifiedMatching OMIM:190080 MYC skos:exactMatch ncbigene:4609 semapv:UnspecifiedMatching -OMIM:190090 SRC skos:exactMatch hgnc:SRC semapv:UnspecifiedMatching +OMIM:190090 SRC skos:exactMatch hgnc.symbol:11283 semapv:UnspecifiedMatching +OMIM:190090 SRC skos:exactMatch hgnc.symbol:SRC semapv:UnspecifiedMatching OMIM:190090 SRC skos:exactMatch ncbigene:6714 semapv:UnspecifiedMatching -OMIM:190120 THRA skos:exactMatch hgnc:THRA semapv:UnspecifiedMatching +OMIM:190120 THRA skos:exactMatch hgnc.symbol:11796 semapv:UnspecifiedMatching +OMIM:190120 THRA skos:exactMatch hgnc.symbol:THRA semapv:UnspecifiedMatching OMIM:190120 THRA skos:exactMatch ncbigene:7067 semapv:UnspecifiedMatching -OMIM:190151 ERBB3 skos:exactMatch hgnc:ERBB3 semapv:UnspecifiedMatching +OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:3431 semapv:UnspecifiedMatching +OMIM:190151 ERBB3 skos:exactMatch hgnc.symbol:ERBB3 semapv:UnspecifiedMatching OMIM:190151 ERBB3 skos:exactMatch ncbigene:2065 semapv:UnspecifiedMatching -OMIM:190160 THRB skos:exactMatch hgnc:THRB semapv:UnspecifiedMatching +OMIM:190160 THRB skos:exactMatch hgnc.symbol:11799 semapv:UnspecifiedMatching +OMIM:190160 THRB skos:exactMatch hgnc.symbol:THRB semapv:UnspecifiedMatching OMIM:190160 THRB skos:exactMatch ncbigene:7068 semapv:UnspecifiedMatching OMIM:190170 TGFA skos:exactMatch UMLS:C1336620 semapv:UnspecifiedMatching -OMIM:190170 TGFA skos:exactMatch hgnc:TGFA semapv:UnspecifiedMatching +OMIM:190170 TGFA skos:exactMatch hgnc.symbol:11765 semapv:UnspecifiedMatching +OMIM:190170 TGFA skos:exactMatch hgnc.symbol:TGFA semapv:UnspecifiedMatching OMIM:190170 TGFA skos:exactMatch ncbigene:7039 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C0011989 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C1366557 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C1968974 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C4016407 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch UMLS:C4748708 semapv:UnspecifiedMatching -OMIM:190180 TGFB1 skos:exactMatch hgnc:TGFB1 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:11766 semapv:UnspecifiedMatching +OMIM:190180 TGFB1 skos:exactMatch hgnc.symbol:TGFB1 semapv:UnspecifiedMatching OMIM:190180 TGFB1 skos:exactMatch ncbigene:7040 semapv:UnspecifiedMatching -OMIM:190181 TGFBR1 skos:exactMatch hgnc:TGFBR1 semapv:UnspecifiedMatching +OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:11772 semapv:UnspecifiedMatching +OMIM:190181 TGFBR1 skos:exactMatch hgnc.symbol:TGFBR1 semapv:UnspecifiedMatching OMIM:190181 TGFBR1 skos:exactMatch ncbigene:7046 semapv:UnspecifiedMatching -OMIM:190182 TGFBR2 skos:exactMatch hgnc:TGFBR2 semapv:UnspecifiedMatching +OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:11773 semapv:UnspecifiedMatching +OMIM:190182 TGFBR2 skos:exactMatch hgnc.symbol:TGFBR2 semapv:UnspecifiedMatching OMIM:190182 TGFBR2 skos:exactMatch ncbigene:7048 semapv:UnspecifiedMatching OMIM:190195 TGM1 skos:exactMatch UMLS:C1420713 semapv:UnspecifiedMatching OMIM:190195 TGM1 skos:exactMatch UMLS:C4016409 semapv:UnspecifiedMatching OMIM:190195 TGM1 skos:exactMatch UMLS:C4551630 semapv:UnspecifiedMatching -OMIM:190195 TGM1 skos:exactMatch hgnc:TGM1 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:11777 semapv:UnspecifiedMatching +OMIM:190195 TGM1 skos:exactMatch hgnc.symbol:TGM1 semapv:UnspecifiedMatching OMIM:190195 TGM1 skos:exactMatch ncbigene:7051 semapv:UnspecifiedMatching -OMIM:190196 TGM2 skos:exactMatch hgnc:TGM2 semapv:UnspecifiedMatching +OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:11778 semapv:UnspecifiedMatching +OMIM:190196 TGM2 skos:exactMatch hgnc.symbol:TGM2 semapv:UnspecifiedMatching OMIM:190196 TGM2 skos:exactMatch ncbigene:7052 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch UMLS:C1413560 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch UMLS:C3809374 semapv:UnspecifiedMatching -OMIM:190197 CNTN2 skos:exactMatch hgnc:CNTN2 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:2172 semapv:UnspecifiedMatching +OMIM:190197 CNTN2 skos:exactMatch hgnc.symbol:CNTN2 semapv:UnspecifiedMatching OMIM:190197 CNTN2 skos:exactMatch ncbigene:6900 semapv:UnspecifiedMatching OMIM:190198 NOTCH1 skos:exactMatch UMLS:C1334889 semapv:UnspecifiedMatching OMIM:190198 NOTCH1 skos:exactMatch UMLS:C3887892 semapv:UnspecifiedMatching OMIM:190198 NOTCH1 skos:exactMatch UMLS:C4014970 semapv:UnspecifiedMatching -OMIM:190198 NOTCH1 skos:exactMatch hgnc:NOTCH1 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:7881 semapv:UnspecifiedMatching +OMIM:190198 NOTCH1 skos:exactMatch hgnc.symbol:NOTCH1 semapv:UnspecifiedMatching OMIM:190198 NOTCH1 skos:exactMatch ncbigene:4851 semapv:UnspecifiedMatching -OMIM:190220 TGFB2 skos:exactMatch hgnc:TGFB2 semapv:UnspecifiedMatching +OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:11768 semapv:UnspecifiedMatching +OMIM:190220 TGFB2 skos:exactMatch hgnc.symbol:TGFB2 semapv:UnspecifiedMatching OMIM:190220 TGFB2 skos:exactMatch ncbigene:7042 semapv:UnspecifiedMatching -OMIM:190230 TGFB3 skos:exactMatch hgnc:TGFB3 semapv:UnspecifiedMatching +OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:11769 semapv:UnspecifiedMatching +OMIM:190230 TGFB3 skos:exactMatch hgnc.symbol:TGFB3 semapv:UnspecifiedMatching OMIM:190230 TGFB3 skos:exactMatch ncbigene:7043 semapv:UnspecifiedMatching -OMIM:190231 TNP1 skos:exactMatch hgnc:TNP1 semapv:UnspecifiedMatching +OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:11951 semapv:UnspecifiedMatching +OMIM:190231 TNP1 skos:exactMatch hgnc.symbol:TNP1 semapv:UnspecifiedMatching OMIM:190231 TNP1 skos:exactMatch ncbigene:7141 semapv:UnspecifiedMatching -OMIM:190232 TNP2 skos:exactMatch hgnc:TNP2 semapv:UnspecifiedMatching +OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:11952 semapv:UnspecifiedMatching +OMIM:190232 TNP2 skos:exactMatch hgnc.symbol:TNP2 semapv:UnspecifiedMatching OMIM:190232 TNP2 skos:exactMatch ncbigene:7142 semapv:UnspecifiedMatching OMIM:190300 tremor, hereditary essential, 1 skos:exactMatch UMLS:C1860861 semapv:UnspecifiedMatching OMIM:190315 SLC25A1 skos:exactMatch UMLS:C1420150 semapv:UnspecifiedMatching OMIM:190315 SLC25A1 skos:exactMatch UMLS:C2746066 semapv:UnspecifiedMatching OMIM:190315 SLC25A1 skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching -OMIM:190315 SLC25A1 skos:exactMatch hgnc:SLC25A1 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:10979 semapv:UnspecifiedMatching +OMIM:190315 SLC25A1 skos:exactMatch hgnc.symbol:SLC25A1 semapv:UnspecifiedMatching OMIM:190315 SLC25A1 skos:exactMatch ncbigene:6576 semapv:UnspecifiedMatching +OMIM:190330 trichomegaly skos:exactMatch Orphanet:411788 semapv:UnspecifiedMatching OMIM:190330 trichomegaly skos:exactMatch UMLS:C0854699 semapv:UnspecifiedMatching -OMIM:190330 trichomegaly skos:exactMatch orphanet.ordo:411788 semapv:UnspecifiedMatching +OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching -OMIM:190350 trichorhinophalangeal syndrome, iia 1 skos:exactMatch orphanet.ordo:77258 semapv:UnspecifiedMatching +OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch Orphanet:77258 semapv:UnspecifiedMatching OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching -OMIM:190351 trichorhinophalangeal syndrome, iia 3 skos:exactMatch orphanet.ordo:77258 semapv:UnspecifiedMatching -OMIM:190370 TCHH skos:exactMatch hgnc:TCHH semapv:UnspecifiedMatching +OMIM:190370 TCHH skos:exactMatch hgnc.symbol:11791 semapv:UnspecifiedMatching +OMIM:190370 TCHH skos:exactMatch hgnc.symbol:TCHH semapv:UnspecifiedMatching OMIM:190370 TCHH skos:exactMatch ncbigene:7062 semapv:UnspecifiedMatching -OMIM:190450 TPI1 skos:exactMatch hgnc:TPI1 semapv:UnspecifiedMatching +OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:12009 semapv:UnspecifiedMatching +OMIM:190450 TPI1 skos:exactMatch hgnc.symbol:TPI1 semapv:UnspecifiedMatching OMIM:190450 TPI1 skos:exactMatch ncbigene:7167 semapv:UnspecifiedMatching -OMIM:190470 TPP2 skos:exactMatch hgnc:TPP2 semapv:UnspecifiedMatching +OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:12016 semapv:UnspecifiedMatching +OMIM:190470 TPP2 skos:exactMatch hgnc.symbol:TPP2 semapv:UnspecifiedMatching OMIM:190470 TPP2 skos:exactMatch ncbigene:7174 semapv:UnspecifiedMatching -OMIM:190700 ZFP36 skos:exactMatch hgnc:ZFP36 semapv:UnspecifiedMatching +OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:12862 semapv:UnspecifiedMatching +OMIM:190700 ZFP36 skos:exactMatch hgnc.symbol:ZFP36 semapv:UnspecifiedMatching OMIM:190700 ZFP36 skos:exactMatch ncbigene:7538 semapv:UnspecifiedMatching -OMIM:190920 TPBG skos:exactMatch hgnc:TPBG semapv:UnspecifiedMatching +OMIM:190920 TPBG skos:exactMatch hgnc.symbol:12004 semapv:UnspecifiedMatching +OMIM:190920 TPBG skos:exactMatch hgnc.symbol:TPBG semapv:UnspecifiedMatching OMIM:190920 TPBG skos:exactMatch ncbigene:7162 semapv:UnspecifiedMatching -OMIM:190930 TMOD1 skos:exactMatch hgnc:TMOD1 semapv:UnspecifiedMatching +OMIM:190930 TMOD1 skos:exactMatch hgnc.symbol:11871 semapv:UnspecifiedMatching +OMIM:190930 TMOD1 skos:exactMatch hgnc.symbol:TMOD1 semapv:UnspecifiedMatching OMIM:190930 TMOD1 skos:exactMatch ncbigene:7111 semapv:UnspecifiedMatching -OMIM:190990 TPM2 skos:exactMatch hgnc:TPM2 semapv:UnspecifiedMatching +OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:12011 semapv:UnspecifiedMatching +OMIM:190990 TPM2 skos:exactMatch hgnc.symbol:TPM2 semapv:UnspecifiedMatching OMIM:190990 TPM2 skos:exactMatch ncbigene:7169 semapv:UnspecifiedMatching -OMIM:191010 TPM1 skos:exactMatch hgnc:TPM1 semapv:UnspecifiedMatching +OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:12010 semapv:UnspecifiedMatching +OMIM:191010 TPM1 skos:exactMatch hgnc.symbol:TPM1 semapv:UnspecifiedMatching OMIM:191010 TPM1 skos:exactMatch ncbigene:7168 semapv:UnspecifiedMatching -OMIM:191030 TPM3 skos:exactMatch hgnc:TPM3 semapv:UnspecifiedMatching +OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:12012 semapv:UnspecifiedMatching +OMIM:191030 TPM3 skos:exactMatch hgnc.symbol:TPM3 semapv:UnspecifiedMatching OMIM:191030 TPM3 skos:exactMatch ncbigene:7170 semapv:UnspecifiedMatching -OMIM:191039 TNNC2 skos:exactMatch hgnc:TNNC2 semapv:UnspecifiedMatching +OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:11944 semapv:UnspecifiedMatching +OMIM:191039 TNNC2 skos:exactMatch hgnc.symbol:TNNC2 semapv:UnspecifiedMatching OMIM:191039 TNNC2 skos:exactMatch ncbigene:7125 semapv:UnspecifiedMatching -OMIM:191040 TNNC1 skos:exactMatch hgnc:TNNC1 semapv:UnspecifiedMatching +OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:11943 semapv:UnspecifiedMatching +OMIM:191040 TNNC1 skos:exactMatch hgnc.symbol:TNNC1 semapv:UnspecifiedMatching OMIM:191040 TNNC1 skos:exactMatch ncbigene:7134 semapv:UnspecifiedMatching OMIM:191041 TNNT1 skos:exactMatch UMLS:C1420827 semapv:UnspecifiedMatching OMIM:191041 TNNT1 skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching -OMIM:191041 TNNT1 skos:exactMatch hgnc:TNNT1 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:11948 semapv:UnspecifiedMatching +OMIM:191041 TNNT1 skos:exactMatch hgnc.symbol:TNNT1 semapv:UnspecifiedMatching OMIM:191041 TNNT1 skos:exactMatch ncbigene:7138 semapv:UnspecifiedMatching -OMIM:191042 TNNI1 skos:exactMatch hgnc:TNNI1 semapv:UnspecifiedMatching +OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:11945 semapv:UnspecifiedMatching +OMIM:191042 TNNI1 skos:exactMatch hgnc.symbol:TNNI1 semapv:UnspecifiedMatching OMIM:191042 TNNI1 skos:exactMatch ncbigene:7135 semapv:UnspecifiedMatching -OMIM:191043 TNNI2 skos:exactMatch hgnc:TNNI2 semapv:UnspecifiedMatching +OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:11946 semapv:UnspecifiedMatching +OMIM:191043 TNNI2 skos:exactMatch hgnc.symbol:TNNI2 semapv:UnspecifiedMatching OMIM:191043 TNNI2 skos:exactMatch ncbigene:7136 semapv:UnspecifiedMatching -OMIM:191044 TNNI3 skos:exactMatch hgnc:TNNI3 semapv:UnspecifiedMatching +OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:11947 semapv:UnspecifiedMatching +OMIM:191044 TNNI3 skos:exactMatch hgnc.symbol:TNNI3 semapv:UnspecifiedMatching OMIM:191044 TNNI3 skos:exactMatch ncbigene:7137 semapv:UnspecifiedMatching -OMIM:191045 TNNT2 skos:exactMatch hgnc:TNNT2 semapv:UnspecifiedMatching +OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:11949 semapv:UnspecifiedMatching +OMIM:191045 TNNT2 skos:exactMatch hgnc.symbol:TNNT2 semapv:UnspecifiedMatching OMIM:191045 TNNT2 skos:exactMatch ncbigene:7139 semapv:UnspecifiedMatching OMIM:191050 WARS1 skos:exactMatch UMLS:C1421476 semapv:UnspecifiedMatching OMIM:191050 WARS1 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching -OMIM:191050 WARS1 skos:exactMatch hgnc:WARS1 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:12729 semapv:UnspecifiedMatching +OMIM:191050 WARS1 skos:exactMatch hgnc.symbol:WARS1 semapv:UnspecifiedMatching OMIM:191050 WARS1 skos:exactMatch ncbigene:7453 semapv:UnspecifiedMatching -OMIM:191060 TPH1 skos:exactMatch hgnc:TPH1 semapv:UnspecifiedMatching +OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:12008 semapv:UnspecifiedMatching +OMIM:191060 TPH1 skos:exactMatch hgnc.symbol:TPH1 semapv:UnspecifiedMatching OMIM:191060 TPH1 skos:exactMatch ncbigene:7166 semapv:UnspecifiedMatching -OMIM:191070 TDO2 skos:exactMatch hgnc:TDO2 semapv:UnspecifiedMatching +OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:11708 semapv:UnspecifiedMatching +OMIM:191070 TDO2 skos:exactMatch hgnc.symbol:TDO2 semapv:UnspecifiedMatching OMIM:191070 TDO2 skos:exactMatch ncbigene:6999 semapv:UnspecifiedMatching -OMIM:191080 TPSAB1 skos:exactMatch hgnc:TPSAB1 semapv:UnspecifiedMatching +OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:12019 semapv:UnspecifiedMatching +OMIM:191080 TPSAB1 skos:exactMatch hgnc.symbol:TPSAB1 semapv:UnspecifiedMatching OMIM:191080 TPSAB1 skos:exactMatch ncbigene:7177 semapv:UnspecifiedMatching -OMIM:191081 TPSB2 skos:exactMatch hgnc:TPSB2 semapv:UnspecifiedMatching +OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:14120 semapv:UnspecifiedMatching +OMIM:191081 TPSB2 skos:exactMatch hgnc.symbol:TPSB2 semapv:UnspecifiedMatching OMIM:191081 TPSB2 skos:exactMatch ncbigene:64499 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch UMLS:C0694895 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch UMLS:C1847648 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch UMLS:C1860707 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:191092 TSC2 skos:exactMatch hgnc:TSC2 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:12363 semapv:UnspecifiedMatching +OMIM:191092 TSC2 skos:exactMatch hgnc.symbol:TSC2 semapv:UnspecifiedMatching OMIM:191092 TSC2 skos:exactMatch ncbigene:7249 semapv:UnspecifiedMatching -OMIM:191110 TUBA4A skos:exactMatch hgnc:TUBA4A semapv:UnspecifiedMatching +OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:12407 semapv:UnspecifiedMatching +OMIM:191110 TUBA4A skos:exactMatch hgnc.symbol:TUBA4A semapv:UnspecifiedMatching OMIM:191110 TUBA4A skos:exactMatch ncbigene:7277 semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch UMLS:C1421231 semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch UMLS:C4014283 semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch UMLS:C4551592 semapv:UnspecifiedMatching -OMIM:191130 TUBB skos:exactMatch hgnc:TUBB semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch hgnc.symbol:20778 semapv:UnspecifiedMatching +OMIM:191130 TUBB skos:exactMatch hgnc.symbol:TUBB semapv:UnspecifiedMatching OMIM:191130 TUBB skos:exactMatch ncbigene:203068 semapv:UnspecifiedMatching -OMIM:191135 TUBG1 skos:exactMatch hgnc:TUBG1 semapv:UnspecifiedMatching +OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:12417 semapv:UnspecifiedMatching +OMIM:191135 TUBG1 skos:exactMatch hgnc.symbol:TUBG1 semapv:UnspecifiedMatching OMIM:191135 TUBG1 skos:exactMatch ncbigene:7283 semapv:UnspecifiedMatching -OMIM:191155 TM4SF1 skos:exactMatch hgnc:TM4SF1 semapv:UnspecifiedMatching +OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:11853 semapv:UnspecifiedMatching +OMIM:191155 TM4SF1 skos:exactMatch hgnc.symbol:TM4SF1 semapv:UnspecifiedMatching OMIM:191155 TM4SF1 skos:exactMatch ncbigene:4071 semapv:UnspecifiedMatching -OMIM:191160 TNF skos:exactMatch hgnc:TNF semapv:UnspecifiedMatching +OMIM:191160 TNF skos:exactMatch hgnc.symbol:11892 semapv:UnspecifiedMatching +OMIM:191160 TNF skos:exactMatch hgnc.symbol:TNF semapv:UnspecifiedMatching OMIM:191160 TNF skos:exactMatch ncbigene:7124 semapv:UnspecifiedMatching -OMIM:191161 TNFAIP1 skos:exactMatch hgnc:TNFAIP1 semapv:UnspecifiedMatching +OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:11894 semapv:UnspecifiedMatching +OMIM:191161 TNFAIP1 skos:exactMatch hgnc.symbol:TNFAIP1 semapv:UnspecifiedMatching OMIM:191161 TNFAIP1 skos:exactMatch ncbigene:7126 semapv:UnspecifiedMatching -OMIM:191163 TNFAIP3 skos:exactMatch hgnc:TNFAIP3 semapv:UnspecifiedMatching +OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:11896 semapv:UnspecifiedMatching +OMIM:191163 TNFAIP3 skos:exactMatch hgnc.symbol:TNFAIP3 semapv:UnspecifiedMatching OMIM:191163 TNFAIP3 skos:exactMatch ncbigene:7128 semapv:UnspecifiedMatching -OMIM:191164 EFNA1 skos:exactMatch hgnc:EFNA1 semapv:UnspecifiedMatching +OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:3221 semapv:UnspecifiedMatching +OMIM:191164 EFNA1 skos:exactMatch hgnc.symbol:EFNA1 semapv:UnspecifiedMatching OMIM:191164 EFNA1 skos:exactMatch ncbigene:1942 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C0007102 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C0009402 semapv:UnspecifiedMatching @@ -6258,101 +8445,139 @@ OMIM:191170 TP53 skos:exactMatch UMLS:C4016282 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C4016419 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C4748488 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch UMLS:C4749067 semapv:UnspecifiedMatching -OMIM:191170 TP53 skos:exactMatch hgnc:TP53 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch hgnc.symbol:11998 semapv:UnspecifiedMatching +OMIM:191170 TP53 skos:exactMatch hgnc.symbol:TP53 semapv:UnspecifiedMatching OMIM:191170 TP53 skos:exactMatch ncbigene:7157 semapv:UnspecifiedMatching -OMIM:191175 HSP90B1 skos:exactMatch hgnc:HSP90B1 semapv:UnspecifiedMatching +OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:12028 semapv:UnspecifiedMatching +OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:HSP90B1 semapv:UnspecifiedMatching OMIM:191175 HSP90B1 skos:exactMatch ncbigene:7184 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1363984 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching -OMIM:191190 TNFRSF1A skos:exactMatch hgnc:TNFRSF1A semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:11916 semapv:UnspecifiedMatching +OMIM:191190 TNFRSF1A skos:exactMatch hgnc.symbol:TNFRSF1A semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch ncbigene:7132 semapv:UnspecifiedMatching -OMIM:191191 TNFRSF1B skos:exactMatch hgnc:TNFRSF1B semapv:UnspecifiedMatching +OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:11917 semapv:UnspecifiedMatching +OMIM:191191 TNFRSF1B skos:exactMatch hgnc.symbol:TNFRSF1B semapv:UnspecifiedMatching OMIM:191191 TNFRSF1B skos:exactMatch ncbigene:7133 semapv:UnspecifiedMatching -OMIM:191195 MAP3K8 skos:exactMatch hgnc:MAP3K8 semapv:UnspecifiedMatching +OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:6860 semapv:UnspecifiedMatching +OMIM:191195 MAP3K8 skos:exactMatch hgnc.symbol:MAP3K8 semapv:UnspecifiedMatching OMIM:191195 MAP3K8 skos:exactMatch ncbigene:1326 semapv:UnspecifiedMatching -OMIM:191270 tyrosinase-like skos:exactMatch hgnc:TYRL semapv:UnspecifiedMatching -OMIM:191275 DCT skos:exactMatch hgnc:DCT semapv:UnspecifiedMatching +OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:12443 semapv:UnspecifiedMatching +OMIM:191270 tyrosinase-like skos:exactMatch hgnc.symbol:TYRL semapv:UnspecifiedMatching +OMIM:191275 DCT skos:exactMatch hgnc.symbol:2709 semapv:UnspecifiedMatching +OMIM:191275 DCT skos:exactMatch hgnc.symbol:DCT semapv:UnspecifiedMatching OMIM:191275 DCT skos:exactMatch ncbigene:1638 semapv:UnspecifiedMatching -OMIM:191290 TH skos:exactMatch hgnc:TH semapv:UnspecifiedMatching +OMIM:191290 TH skos:exactMatch hgnc.symbol:11782 semapv:UnspecifiedMatching +OMIM:191290 TH skos:exactMatch hgnc.symbol:TH semapv:UnspecifiedMatching OMIM:191290 TH skos:exactMatch ncbigene:7054 semapv:UnspecifiedMatching OMIM:191305 BLK skos:exactMatch UMLS:C1332419 semapv:UnspecifiedMatching OMIM:191305 BLK skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching -OMIM:191305 BLK skos:exactMatch hgnc:BLK semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch hgnc.symbol:1057 semapv:UnspecifiedMatching +OMIM:191305 BLK skos:exactMatch hgnc.symbol:BLK semapv:UnspecifiedMatching OMIM:191305 BLK skos:exactMatch ncbigene:640 semapv:UnspecifiedMatching -OMIM:191306 KDR skos:exactMatch hgnc:KDR semapv:UnspecifiedMatching +OMIM:191306 KDR skos:exactMatch hgnc.symbol:6307 semapv:UnspecifiedMatching +OMIM:191306 KDR skos:exactMatch hgnc.symbol:KDR semapv:UnspecifiedMatching OMIM:191306 KDR skos:exactMatch ncbigene:3791 semapv:UnspecifiedMatching -OMIM:191311 DDR2 skos:exactMatch hgnc:DDR2 semapv:UnspecifiedMatching +OMIM:191311 DDR2 skos:exactMatch hgnc.symbol:2731 semapv:UnspecifiedMatching +OMIM:191311 DDR2 skos:exactMatch hgnc.symbol:DDR2 semapv:UnspecifiedMatching OMIM:191311 DDR2 skos:exactMatch ncbigene:4921 semapv:UnspecifiedMatching OMIM:191315 NTRK1 skos:exactMatch UMLS:C0020074 semapv:UnspecifiedMatching OMIM:191315 NTRK1 skos:exactMatch UMLS:C0919487 semapv:UnspecifiedMatching OMIM:191315 NTRK1 skos:exactMatch UMLS:C1833921 semapv:UnspecifiedMatching -OMIM:191315 NTRK1 skos:exactMatch hgnc:NTRK1 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch hgnc.symbol:8031 semapv:UnspecifiedMatching +OMIM:191315 NTRK1 skos:exactMatch hgnc.symbol:NTRK1 semapv:UnspecifiedMatching OMIM:191315 NTRK1 skos:exactMatch ncbigene:4914 semapv:UnspecifiedMatching -OMIM:191316 NTRK3 skos:exactMatch hgnc:NTRK3 semapv:UnspecifiedMatching +OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:8033 semapv:UnspecifiedMatching +OMIM:191316 NTRK3 skos:exactMatch hgnc.symbol:NTRK3 semapv:UnspecifiedMatching OMIM:191316 NTRK3 skos:exactMatch ncbigene:4916 semapv:UnspecifiedMatching -OMIM:191317 U2AF1 skos:exactMatch hgnc:U2AF1 semapv:UnspecifiedMatching +OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:12453 semapv:UnspecifiedMatching +OMIM:191317 U2AF1 skos:exactMatch hgnc.symbol:U2AF1 semapv:UnspecifiedMatching OMIM:191317 U2AF1 skos:exactMatch ncbigene:7307 semapv:UnspecifiedMatching -OMIM:191318 U2AF2 skos:exactMatch hgnc:U2AF2 semapv:UnspecifiedMatching +OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:23156 semapv:UnspecifiedMatching +OMIM:191318 U2AF2 skos:exactMatch hgnc.symbol:U2AF2 semapv:UnspecifiedMatching OMIM:191318 U2AF2 skos:exactMatch ncbigene:11338 semapv:UnspecifiedMatching -OMIM:191321 UBA52 skos:exactMatch hgnc:UBA52 semapv:UnspecifiedMatching +OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:12458 semapv:UnspecifiedMatching +OMIM:191321 UBA52 skos:exactMatch hgnc.symbol:UBA52 semapv:UnspecifiedMatching OMIM:191321 UBA52 skos:exactMatch ncbigene:7311 semapv:UnspecifiedMatching -OMIM:191325 UBA7 skos:exactMatch hgnc:UBA7 semapv:UnspecifiedMatching +OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:12471 semapv:UnspecifiedMatching +OMIM:191325 UBA7 skos:exactMatch hgnc.symbol:UBA7 semapv:UnspecifiedMatching OMIM:191325 UBA7 skos:exactMatch ncbigene:7318 semapv:UnspecifiedMatching OMIM:191327 UQCRFS1 skos:exactMatch UMLS:C1421371 semapv:UnspecifiedMatching OMIM:191327 UQCRFS1 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching -OMIM:191327 UQCRFS1 skos:exactMatch hgnc:UQCRFS1 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:12587 semapv:UnspecifiedMatching +OMIM:191327 UQCRFS1 skos:exactMatch hgnc.symbol:UQCRFS1 semapv:UnspecifiedMatching OMIM:191327 UQCRFS1 skos:exactMatch ncbigene:7386 semapv:UnspecifiedMatching -OMIM:191328 UQCRC1 skos:exactMatch hgnc:UQCRC1 semapv:UnspecifiedMatching +OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:12585 semapv:UnspecifiedMatching +OMIM:191328 UQCRC1 skos:exactMatch hgnc.symbol:UQCRC1 semapv:UnspecifiedMatching OMIM:191328 UQCRC1 skos:exactMatch ncbigene:7384 semapv:UnspecifiedMatching -OMIM:191329 UQCRC2 skos:exactMatch hgnc:UQCRC2 semapv:UnspecifiedMatching +OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:12586 semapv:UnspecifiedMatching +OMIM:191329 UQCRC2 skos:exactMatch hgnc.symbol:UQCRC2 semapv:UnspecifiedMatching OMIM:191329 UQCRC2 skos:exactMatch ncbigene:7385 semapv:UnspecifiedMatching -OMIM:191330 UQCRB skos:exactMatch hgnc:UQCRB semapv:UnspecifiedMatching +OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:12582 semapv:UnspecifiedMatching +OMIM:191330 UQCRB skos:exactMatch hgnc.symbol:UQCRB semapv:UnspecifiedMatching OMIM:191330 UQCRB skos:exactMatch ncbigene:7381 semapv:UnspecifiedMatching -OMIM:191339 UBB skos:exactMatch hgnc:UBB semapv:UnspecifiedMatching +OMIM:191339 UBB skos:exactMatch hgnc.symbol:12463 semapv:UnspecifiedMatching +OMIM:191339 UBB skos:exactMatch hgnc.symbol:UBB semapv:UnspecifiedMatching OMIM:191339 UBB skos:exactMatch ncbigene:7314 semapv:UnspecifiedMatching -OMIM:191340 UBC skos:exactMatch hgnc:UBC semapv:UnspecifiedMatching +OMIM:191340 UBC skos:exactMatch hgnc.symbol:12468 semapv:UnspecifiedMatching +OMIM:191340 UBC skos:exactMatch hgnc.symbol:UBC semapv:UnspecifiedMatching OMIM:191340 UBC skos:exactMatch ncbigene:7316 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch UMLS:C1421309 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch UMLS:C3150899 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch UMLS:C3809665 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:191342 UCHL1 skos:exactMatch hgnc:UCHL1 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:12513 semapv:UnspecifiedMatching +OMIM:191342 UCHL1 skos:exactMatch hgnc.symbol:UCHL1 semapv:UnspecifiedMatching OMIM:191342 UCHL1 skos:exactMatch ncbigene:7345 semapv:UnspecifiedMatching -OMIM:191343 RPS27A skos:exactMatch hgnc:RPS27A semapv:UnspecifiedMatching +OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:10417 semapv:UnspecifiedMatching +OMIM:191343 RPS27A skos:exactMatch hgnc.symbol:RPS27A semapv:UnspecifiedMatching OMIM:191343 RPS27A skos:exactMatch ncbigene:6233 semapv:UnspecifiedMatching -OMIM:191350 DPAGT1 skos:exactMatch hgnc:DPAGT1 semapv:UnspecifiedMatching +OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:2995 semapv:UnspecifiedMatching +OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:DPAGT1 semapv:UnspecifiedMatching OMIM:191350 DPAGT1 skos:exactMatch ncbigene:1798 semapv:UnspecifiedMatching -OMIM:191510 CSDE1 skos:exactMatch hgnc:CSDE1 semapv:UnspecifiedMatching +OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:29905 semapv:UnspecifiedMatching +OMIM:191510 CSDE1 skos:exactMatch hgnc.symbol:CSDE1 semapv:UnspecifiedMatching OMIM:191510 CSDE1 skos:exactMatch ncbigene:7812 semapv:UnspecifiedMatching -OMIM:191523 USF1 skos:exactMatch hgnc:USF1 semapv:UnspecifiedMatching +OMIM:191523 USF1 skos:exactMatch hgnc.symbol:12593 semapv:UnspecifiedMatching +OMIM:191523 USF1 skos:exactMatch hgnc.symbol:USF1 semapv:UnspecifiedMatching OMIM:191523 USF1 skos:exactMatch ncbigene:7391 semapv:UnspecifiedMatching -OMIM:191525 UNG skos:exactMatch hgnc:UNG semapv:UnspecifiedMatching +OMIM:191525 UNG skos:exactMatch hgnc.symbol:12572 semapv:UnspecifiedMatching +OMIM:191525 UNG skos:exactMatch hgnc.symbol:UNG semapv:UnspecifiedMatching OMIM:191525 UNG skos:exactMatch ncbigene:7374 semapv:UnspecifiedMatching -OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc:UOX semapv:UnspecifiedMatching -OMIM:191710 CMPK1 skos:exactMatch hgnc:CMPK1 semapv:UnspecifiedMatching +OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:12575 semapv:UnspecifiedMatching +OMIM:191540 urate oxidase, pseudogene skos:exactMatch hgnc.symbol:UOX semapv:UnspecifiedMatching +OMIM:191710 CMPK1 skos:exactMatch hgnc.symbol:18170 semapv:UnspecifiedMatching +OMIM:191710 CMPK1 skos:exactMatch hgnc.symbol:CMPK1 semapv:UnspecifiedMatching OMIM:191710 CMPK1 skos:exactMatch ncbigene:51727 semapv:UnspecifiedMatching -OMIM:191720 NT5C skos:exactMatch hgnc:NT5C semapv:UnspecifiedMatching +OMIM:191720 NT5C skos:exactMatch hgnc.symbol:17144 semapv:UnspecifiedMatching +OMIM:191720 NT5C skos:exactMatch hgnc.symbol:NT5C semapv:UnspecifiedMatching OMIM:191720 NT5C skos:exactMatch ncbigene:30833 semapv:UnspecifiedMatching -OMIM:191730 UPP1 skos:exactMatch hgnc:UPP1 semapv:UnspecifiedMatching +OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:12576 semapv:UnspecifiedMatching +OMIM:191730 UPP1 skos:exactMatch hgnc.symbol:UPP1 semapv:UnspecifiedMatching OMIM:191730 UPP1 skos:exactMatch ncbigene:7378 semapv:UnspecifiedMatching -OMIM:191740 UGT1A1 skos:exactMatch hgnc:UGT1A1 semapv:UnspecifiedMatching +OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:12530 semapv:UnspecifiedMatching +OMIM:191740 UGT1A1 skos:exactMatch hgnc.symbol:UGT1A1 semapv:UnspecifiedMatching OMIM:191740 UGT1A1 skos:exactMatch ncbigene:54658 semapv:UnspecifiedMatching OMIM:191760 UGP2 skos:exactMatch UMLS:C1421321 semapv:UnspecifiedMatching OMIM:191760 UGP2 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching -OMIM:191760 UGP2 skos:exactMatch hgnc:UGP2 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:12527 semapv:UnspecifiedMatching +OMIM:191760 UGP2 skos:exactMatch hgnc.symbol:UGP2 semapv:UnspecifiedMatching OMIM:191760 UGP2 skos:exactMatch ncbigene:7360 semapv:UnspecifiedMatching OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C0403645 semapv:UnspecifiedMatching OMIM:191800 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut skos:exactMatch UMLS:C5231389 semapv:UnspecifiedMatching -OMIM:191840 PLAU skos:exactMatch hgnc:PLAU semapv:UnspecifiedMatching +OMIM:191840 PLAU skos:exactMatch hgnc.symbol:9052 semapv:UnspecifiedMatching +OMIM:191840 PLAU skos:exactMatch hgnc.symbol:PLAU semapv:UnspecifiedMatching OMIM:191840 PLAU skos:exactMatch ncbigene:5328 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C1421351 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C1835934 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C1859040 semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch UMLS:C4551496 semapv:UnspecifiedMatching -OMIM:191845 UMOD skos:exactMatch hgnc:UMOD semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch hgnc.symbol:12559 semapv:UnspecifiedMatching +OMIM:191845 UMOD skos:exactMatch hgnc.symbol:UMOD semapv:UnspecifiedMatching OMIM:191845 UMOD skos:exactMatch ncbigene:7369 semapv:UnspecifiedMatching -OMIM:192020 SCGB1A1 skos:exactMatch hgnc:SCGB1A1 semapv:UnspecifiedMatching +OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:12523 semapv:UnspecifiedMatching +OMIM:192020 SCGB1A1 skos:exactMatch hgnc.symbol:SCGB1A1 semapv:UnspecifiedMatching OMIM:192020 SCGB1A1 skos:exactMatch ncbigene:7356 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C0694872 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C1708349 semapv:UnspecifiedMatching @@ -6363,883 +8588,991 @@ OMIM:192090 CDH1 skos:exactMatch UMLS:C4016426 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C4016427 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C4016428 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch UMLS:C4551988 semapv:UnspecifiedMatching -OMIM:192090 CDH1 skos:exactMatch hgnc:CDH1 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:1748 semapv:UnspecifiedMatching +OMIM:192090 CDH1 skos:exactMatch hgnc.symbol:CDH1 semapv:UnspecifiedMatching OMIM:192090 CDH1 skos:exactMatch ncbigene:999 semapv:UnspecifiedMatching -OMIM:192130 ATP6V0A1 skos:exactMatch hgnc:ATP6V0A1 semapv:UnspecifiedMatching +OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:865 semapv:UnspecifiedMatching +OMIM:192130 ATP6V0A1 skos:exactMatch hgnc.symbol:ATP6V0A1 semapv:UnspecifiedMatching OMIM:192130 ATP6V0A1 skos:exactMatch ncbigene:535 semapv:UnspecifiedMatching OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C1412673 semapv:UnspecifiedMatching OMIM:192132 ATP6V1B1 skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching -OMIM:192132 ATP6V1B1 skos:exactMatch hgnc:ATP6V1B1 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:853 semapv:UnspecifiedMatching +OMIM:192132 ATP6V1B1 skos:exactMatch hgnc.symbol:ATP6V1B1 semapv:UnspecifiedMatching OMIM:192132 ATP6V1B1 skos:exactMatch ncbigene:525 semapv:UnspecifiedMatching -OMIM:192150 VARS1 skos:exactMatch hgnc:VARS1 semapv:UnspecifiedMatching +OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:12651 semapv:UnspecifiedMatching +OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:VARS1 semapv:UnspecifiedMatching OMIM:192150 VARS1 skos:exactMatch ncbigene:7407 semapv:UnspecifiedMatching -OMIM:192225 VCAM1 skos:exactMatch hgnc:VCAM1 semapv:UnspecifiedMatching +OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:12663 semapv:UnspecifiedMatching +OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:VCAM1 semapv:UnspecifiedMatching OMIM:192225 VCAM1 skos:exactMatch ncbigene:7412 semapv:UnspecifiedMatching -OMIM:192240 VEGFA skos:exactMatch hgnc:VEGFA semapv:UnspecifiedMatching +OMIM:192240 VEGFA skos:exactMatch hgnc.symbol:12680 semapv:UnspecifiedMatching +OMIM:192240 VEGFA skos:exactMatch hgnc.symbol:VEGFA semapv:UnspecifiedMatching OMIM:192240 VEGFA skos:exactMatch ncbigene:7422 semapv:UnspecifiedMatching -OMIM:192320 VIP skos:exactMatch hgnc:VIP semapv:UnspecifiedMatching +OMIM:192320 VIP skos:exactMatch hgnc.symbol:12693 semapv:UnspecifiedMatching +OMIM:192320 VIP skos:exactMatch hgnc.symbol:VIP semapv:UnspecifiedMatching OMIM:192320 VIP skos:exactMatch ncbigene:7432 semapv:UnspecifiedMatching OMIM:192321 VIPR1 skos:exactMatch UMLS:C1336936 semapv:UnspecifiedMatching -OMIM:192321 VIPR1 skos:exactMatch hgnc:VIPR1 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:12694 semapv:UnspecifiedMatching +OMIM:192321 VIPR1 skos:exactMatch hgnc.symbol:VIPR1 semapv:UnspecifiedMatching OMIM:192321 VIPR1 skos:exactMatch ncbigene:7433 semapv:UnspecifiedMatching -OMIM:192340 AVP skos:exactMatch hgnc:AVP semapv:UnspecifiedMatching +OMIM:192340 AVP skos:exactMatch hgnc.symbol:894 semapv:UnspecifiedMatching +OMIM:192340 AVP skos:exactMatch hgnc.symbol:AVP semapv:UnspecifiedMatching OMIM:192340 AVP skos:exactMatch ncbigene:551 semapv:UnspecifiedMatching +OMIM:192430 velocardiofacial syndrome skos:exactMatch Orphanet:567 semapv:UnspecifiedMatching OMIM:192430 velocardiofacial syndrome skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching -OMIM:192430 velocardiofacial syndrome skos:exactMatch orphanet.ordo:567 semapv:UnspecifiedMatching +OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch Orphanet:3201 semapv:UnspecifiedMatching OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch UMLS:C1860471 semapv:UnspecifiedMatching -OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence skos:exactMatch orphanet.ordo:3201 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +OMIM:192500 long qt syndrome 1 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C3277700 semapv:UnspecifiedMatching OMIM:192500 long qt syndrome 1 skos:exactMatch UMLS:C4551647 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch orphanet.ordo:101016 semapv:UnspecifiedMatching -OMIM:192500 long qt syndrome 1 skos:exactMatch orphanet.ordo:768 semapv:UnspecifiedMatching OMIM:192968 ITGA1 skos:exactMatch UMLS:C1442490 semapv:UnspecifiedMatching -OMIM:192968 ITGA1 skos:exactMatch hgnc:ITGA1 semapv:UnspecifiedMatching +OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:6134 semapv:UnspecifiedMatching +OMIM:192968 ITGA1 skos:exactMatch hgnc.symbol:ITGA1 semapv:UnspecifiedMatching OMIM:192968 ITGA1 skos:exactMatch ncbigene:3672 semapv:UnspecifiedMatching -OMIM:192974 ITGA2 skos:exactMatch hgnc:ITGA2 semapv:UnspecifiedMatching +OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:6137 semapv:UnspecifiedMatching +OMIM:192974 ITGA2 skos:exactMatch hgnc.symbol:ITGA2 semapv:UnspecifiedMatching OMIM:192974 ITGA2 skos:exactMatch ncbigene:3673 semapv:UnspecifiedMatching -OMIM:192975 ITGA4 skos:exactMatch hgnc:ITGA4 semapv:UnspecifiedMatching +OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:6140 semapv:UnspecifiedMatching +OMIM:192975 ITGA4 skos:exactMatch hgnc.symbol:ITGA4 semapv:UnspecifiedMatching OMIM:192975 ITGA4 skos:exactMatch ncbigene:3676 semapv:UnspecifiedMatching -OMIM:192977 VLDLR skos:exactMatch hgnc:VLDLR semapv:UnspecifiedMatching +OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:12698 semapv:UnspecifiedMatching +OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:VLDLR semapv:UnspecifiedMatching OMIM:192977 VLDLR skos:exactMatch ncbigene:7436 semapv:UnspecifiedMatching -OMIM:193001 SLC18A2 skos:exactMatch hgnc:SLC18A2 semapv:UnspecifiedMatching +OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:10935 semapv:UnspecifiedMatching +OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:SLC18A2 semapv:UnspecifiedMatching OMIM:193001 SLC18A2 skos:exactMatch ncbigene:6571 semapv:UnspecifiedMatching -OMIM:193002 SLC18A1 skos:exactMatch hgnc:SLC18A1 semapv:UnspecifiedMatching +OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:10934 semapv:UnspecifiedMatching +OMIM:193002 SLC18A1 skos:exactMatch hgnc.symbol:SLC18A1 semapv:UnspecifiedMatching OMIM:193002 SLC18A1 skos:exactMatch ncbigene:6570 semapv:UnspecifiedMatching -OMIM:193040 VIL1 skos:exactMatch hgnc:VIL1 semapv:UnspecifiedMatching +OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:12690 semapv:UnspecifiedMatching +OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:VIL1 semapv:UnspecifiedMatching OMIM:193040 VIL1 skos:exactMatch ncbigene:7429 semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C1421451 semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C3805411 semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C4479666 semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch UMLS:C4479667 semapv:UnspecifiedMatching -OMIM:193060 VIM skos:exactMatch hgnc:VIM semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch hgnc.symbol:12692 semapv:UnspecifiedMatching +OMIM:193060 VIM skos:exactMatch hgnc.symbol:VIM semapv:UnspecifiedMatching OMIM:193060 VIM skos:exactMatch ncbigene:7431 semapv:UnspecifiedMatching -OMIM:193065 VCL skos:exactMatch hgnc:VCL semapv:UnspecifiedMatching +OMIM:193065 VCL skos:exactMatch hgnc.symbol:12665 semapv:UnspecifiedMatching +OMIM:193065 VCL skos:exactMatch hgnc.symbol:VCL semapv:UnspecifiedMatching OMIM:193065 VCL skos:exactMatch ncbigene:7414 semapv:UnspecifiedMatching -OMIM:193067 FLI1 skos:exactMatch hgnc:FLI1 semapv:UnspecifiedMatching +OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:3749 semapv:UnspecifiedMatching +OMIM:193067 FLI1 skos:exactMatch hgnc.symbol:FLI1 semapv:UnspecifiedMatching OMIM:193067 FLI1 skos:exactMatch ncbigene:2313 semapv:UnspecifiedMatching +OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch Orphanet:89937 semapv:UnspecifiedMatching OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch UMLS:C0342642 semapv:UnspecifiedMatching -OMIM:193100 hypophosphatemic rickets, autosomal dominant skos:exactMatch orphanet.ordo:89937 semapv:UnspecifiedMatching -OMIM:193190 VTN skos:exactMatch hgnc:VTN semapv:UnspecifiedMatching +OMIM:193190 VTN skos:exactMatch hgnc.symbol:12724 semapv:UnspecifiedMatching +OMIM:193190 VTN skos:exactMatch hgnc.symbol:VTN semapv:UnspecifiedMatching OMIM:193190 VTN skos:exactMatch ncbigene:7448 semapv:UnspecifiedMatching -OMIM:193210 ITGAV skos:exactMatch hgnc:ITGAV semapv:UnspecifiedMatching +OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:6150 semapv:UnspecifiedMatching +OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:ITGAV semapv:UnspecifiedMatching OMIM:193210 ITGAV skos:exactMatch ncbigene:3685 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:263347 semapv:UnspecifiedMatching +OMIM:193220 vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 semapv:UnspecifiedMatching OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching OMIM:193220 vitreoretinochoroidopathy skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching -OMIM:193220 vitreoretinochoroidopathy skos:exactMatch orphanet.ordo:263347 semapv:UnspecifiedMatching -OMIM:193220 vitreoretinochoroidopathy skos:exactMatch orphanet.ordo:3086 semapv:UnspecifiedMatching -OMIM:193245 VDAC2 skos:exactMatch hgnc:VDAC2 semapv:UnspecifiedMatching +OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:12672 semapv:UnspecifiedMatching +OMIM:193245 VDAC2 skos:exactMatch hgnc.symbol:VDAC2 semapv:UnspecifiedMatching OMIM:193245 VDAC2 skos:exactMatch ncbigene:7417 semapv:UnspecifiedMatching +OMIM:193300 von hippel-lindau syndrome skos:exactMatch Orphanet:892 semapv:UnspecifiedMatching OMIM:193300 von hippel-lindau syndrome skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching -OMIM:193300 von hippel-lindau syndrome skos:exactMatch orphanet.ordo:892 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch Orphanet:894 semapv:UnspecifiedMatching OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch UMLS:C1847800 semapv:UnspecifiedMatching -OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch orphanet.ordo:3440 semapv:UnspecifiedMatching -OMIM:193500 waardenburg syndrome, iia 1 skos:exactMatch orphanet.ordo:894 semapv:UnspecifiedMatching +OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch UMLS:C1860339 semapv:UnspecifiedMatching -OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch orphanet.ordo:3440 semapv:UnspecifiedMatching -OMIM:193510 waardenburg syndrome, iia 2a skos:exactMatch orphanet.ordo:895 semapv:UnspecifiedMatching -OMIM:193525 WEE1 skos:exactMatch hgnc:WEE1 semapv:UnspecifiedMatching +OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:12761 semapv:UnspecifiedMatching +OMIM:193525 WEE1 skos:exactMatch hgnc.symbol:WEE1 semapv:UnspecifiedMatching OMIM:193525 WEE1 skos:exactMatch ncbigene:7465 semapv:UnspecifiedMatching +OMIM:194050 williams-beuren syndrome skos:exactMatch Orphanet:904 semapv:UnspecifiedMatching OMIM:194050 williams-beuren syndrome skos:exactMatch UMLS:C0175702 semapv:UnspecifiedMatching -OMIM:194050 williams-beuren syndrome skos:exactMatch orphanet.ordo:904 semapv:UnspecifiedMatching +OMIM:194070 wilms tumor 1 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching OMIM:194070 wilms tumor 1 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching -OMIM:194070 wilms tumor 1 skos:exactMatch orphanet.ordo:654 semapv:UnspecifiedMatching OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch UMLS:C0043202 semapv:UnspecifiedMatching -OMIM:194355 XBP1 skos:exactMatch hgnc:XBP1 semapv:UnspecifiedMatching +OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:12801 semapv:UnspecifiedMatching +OMIM:194355 XBP1 skos:exactMatch hgnc.symbol:XBP1 semapv:UnspecifiedMatching OMIM:194355 XBP1 skos:exactMatch ncbigene:7494 semapv:UnspecifiedMatching -OMIM:194360 XRCC1 skos:exactMatch hgnc:XRCC1 semapv:UnspecifiedMatching +OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:12828 semapv:UnspecifiedMatching +OMIM:194360 XRCC1 skos:exactMatch hgnc.symbol:XRCC1 semapv:UnspecifiedMatching OMIM:194360 XRCC1 skos:exactMatch ncbigene:7515 semapv:UnspecifiedMatching -OMIM:194363 XRCC4 skos:exactMatch hgnc:XRCC4 semapv:UnspecifiedMatching +OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:12831 semapv:UnspecifiedMatching +OMIM:194363 XRCC4 skos:exactMatch hgnc.symbol:XRCC4 semapv:UnspecifiedMatching OMIM:194363 XRCC4 skos:exactMatch ncbigene:7518 semapv:UnspecifiedMatching -OMIM:194364 XRCC5 skos:exactMatch hgnc:XRCC5 semapv:UnspecifiedMatching +OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:12833 semapv:UnspecifiedMatching +OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:XRCC5 semapv:UnspecifiedMatching OMIM:194364 XRCC5 skos:exactMatch ncbigene:7520 semapv:UnspecifiedMatching OMIM:194450 yeast factor skos:exactMatch UMLS:C1860230 semapv:UnspecifiedMatching -OMIM:194460 AZGP1 skos:exactMatch hgnc:AZGP1 semapv:UnspecifiedMatching +OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:910 semapv:UnspecifiedMatching +OMIM:194460 AZGP1 skos:exactMatch hgnc.symbol:AZGP1 semapv:UnspecifiedMatching OMIM:194460 AZGP1 skos:exactMatch ncbigene:563 semapv:UnspecifiedMatching -OMIM:194480 ZFP3 skos:exactMatch hgnc:ZFP3 semapv:UnspecifiedMatching +OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:12861 semapv:UnspecifiedMatching +OMIM:194480 ZFP3 skos:exactMatch hgnc.symbol:ZFP3 semapv:UnspecifiedMatching OMIM:194480 ZFP3 skos:exactMatch ncbigene:124961 semapv:UnspecifiedMatching OMIM:194490 zinc finger protein 1 skos:exactMatch UMLS:C1421587 semapv:UnspecifiedMatching -OMIM:194500 ZNF2 skos:exactMatch hgnc:ZNF2 semapv:UnspecifiedMatching +OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:12991 semapv:UnspecifiedMatching +OMIM:194500 ZNF2 skos:exactMatch hgnc.symbol:ZNF2 semapv:UnspecifiedMatching OMIM:194500 ZNF2 skos:exactMatch ncbigene:7549 semapv:UnspecifiedMatching -OMIM:194510 ZNF3 skos:exactMatch hgnc:ZNF3 semapv:UnspecifiedMatching +OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:13089 semapv:UnspecifiedMatching +OMIM:194510 ZNF3 skos:exactMatch hgnc.symbol:ZNF3 semapv:UnspecifiedMatching OMIM:194510 ZNF3 skos:exactMatch ncbigene:7551 semapv:UnspecifiedMatching -OMIM:194521 ZNF33A skos:exactMatch hgnc:ZNF33A semapv:UnspecifiedMatching +OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:13096 semapv:UnspecifiedMatching +OMIM:194521 ZNF33A skos:exactMatch hgnc.symbol:ZNF33A semapv:UnspecifiedMatching OMIM:194521 ZNF33A skos:exactMatch ncbigene:7581 semapv:UnspecifiedMatching -OMIM:194522 ZNF33B skos:exactMatch hgnc:ZNF33B semapv:UnspecifiedMatching +OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:13097 semapv:UnspecifiedMatching +OMIM:194522 ZNF33B skos:exactMatch hgnc.symbol:ZNF33B semapv:UnspecifiedMatching OMIM:194522 ZNF33B skos:exactMatch ncbigene:7582 semapv:UnspecifiedMatching -OMIM:194524 ZNF18 skos:exactMatch hgnc:ZNF18 semapv:UnspecifiedMatching +OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:12969 semapv:UnspecifiedMatching +OMIM:194524 ZNF18 skos:exactMatch hgnc.symbol:ZNF18 semapv:UnspecifiedMatching OMIM:194524 ZNF18 skos:exactMatch ncbigene:7566 semapv:UnspecifiedMatching -OMIM:194525 ZNF19 skos:exactMatch hgnc:ZNF19 semapv:UnspecifiedMatching +OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:12981 semapv:UnspecifiedMatching +OMIM:194525 ZNF19 skos:exactMatch hgnc.symbol:ZNF19 semapv:UnspecifiedMatching OMIM:194525 ZNF19 skos:exactMatch ncbigene:7567 semapv:UnspecifiedMatching -OMIM:194526 ZNF34 skos:exactMatch hgnc:ZNF34 semapv:UnspecifiedMatching +OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:13098 semapv:UnspecifiedMatching +OMIM:194526 ZNF34 skos:exactMatch hgnc.symbol:ZNF34 semapv:UnspecifiedMatching OMIM:194526 ZNF34 skos:exactMatch ncbigene:80778 semapv:UnspecifiedMatching -OMIM:194527 ZNF23 skos:exactMatch hgnc:ZNF23 semapv:UnspecifiedMatching +OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:13023 semapv:UnspecifiedMatching +OMIM:194527 ZNF23 skos:exactMatch hgnc.symbol:ZNF23 semapv:UnspecifiedMatching OMIM:194527 ZNF23 skos:exactMatch ncbigene:7571 semapv:UnspecifiedMatching -OMIM:194528 ZNF25 skos:exactMatch hgnc:ZNF25 semapv:UnspecifiedMatching +OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:13043 semapv:UnspecifiedMatching +OMIM:194528 ZNF25 skos:exactMatch hgnc.symbol:ZNF25 semapv:UnspecifiedMatching OMIM:194528 ZNF25 skos:exactMatch ncbigene:219749 semapv:UnspecifiedMatching -OMIM:194529 ZNF22 skos:exactMatch hgnc:ZNF22 semapv:UnspecifiedMatching +OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:13012 semapv:UnspecifiedMatching +OMIM:194529 ZNF22 skos:exactMatch hgnc.symbol:ZNF22 semapv:UnspecifiedMatching OMIM:194529 ZNF22 skos:exactMatch ncbigene:7570 semapv:UnspecifiedMatching -OMIM:194531 ZNF7 skos:exactMatch hgnc:ZNF7 semapv:UnspecifiedMatching +OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:13139 semapv:UnspecifiedMatching +OMIM:194531 ZNF7 skos:exactMatch hgnc.symbol:ZNF7 semapv:UnspecifiedMatching OMIM:194531 ZNF7 skos:exactMatch ncbigene:7553 semapv:UnspecifiedMatching -OMIM:194532 ZNF8 skos:exactMatch hgnc:ZNF8 semapv:UnspecifiedMatching +OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:13154 semapv:UnspecifiedMatching +OMIM:194532 ZNF8 skos:exactMatch hgnc.symbol:ZNF8 semapv:UnspecifiedMatching OMIM:194532 ZNF8 skos:exactMatch ncbigene:7554 semapv:UnspecifiedMatching -OMIM:194533 ZNF35 skos:exactMatch hgnc:ZNF35 semapv:UnspecifiedMatching +OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:13099 semapv:UnspecifiedMatching +OMIM:194533 ZNF35 skos:exactMatch hgnc.symbol:ZNF35 semapv:UnspecifiedMatching OMIM:194533 ZNF35 skos:exactMatch ncbigene:7584 semapv:UnspecifiedMatching -OMIM:194534 ZNF24 skos:exactMatch hgnc:ZNF24 semapv:UnspecifiedMatching +OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:13032 semapv:UnspecifiedMatching +OMIM:194534 ZNF24 skos:exactMatch hgnc.symbol:ZNF24 semapv:UnspecifiedMatching OMIM:194534 ZNF24 skos:exactMatch ncbigene:7572 semapv:UnspecifiedMatching -OMIM:194535 ZNF29P skos:exactMatch hgnc:ZNF29P semapv:UnspecifiedMatching +OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:13080 semapv:UnspecifiedMatching +OMIM:194535 ZNF29P skos:exactMatch hgnc.symbol:ZNF29P semapv:UnspecifiedMatching OMIM:194535 ZNF29P skos:exactMatch ncbigene:7577 semapv:UnspecifiedMatching -OMIM:194536 ZNF12 skos:exactMatch hgnc:ZNF12 semapv:UnspecifiedMatching +OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:12902 semapv:UnspecifiedMatching +OMIM:194536 ZNF12 skos:exactMatch hgnc.symbol:ZNF12 semapv:UnspecifiedMatching OMIM:194536 ZNF12 skos:exactMatch ncbigene:7559 semapv:UnspecifiedMatching -OMIM:194537 ZNF26 skos:exactMatch hgnc:ZNF26 semapv:UnspecifiedMatching +OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:13053 semapv:UnspecifiedMatching +OMIM:194537 ZNF26 skos:exactMatch hgnc.symbol:ZNF26 semapv:UnspecifiedMatching OMIM:194537 ZNF26 skos:exactMatch ncbigene:7574 semapv:UnspecifiedMatching -OMIM:194538 ZNF10 skos:exactMatch hgnc:ZNF10 semapv:UnspecifiedMatching +OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:12879 semapv:UnspecifiedMatching +OMIM:194538 ZNF10 skos:exactMatch hgnc.symbol:ZNF10 semapv:UnspecifiedMatching OMIM:194538 ZNF10 skos:exactMatch ncbigene:7556 semapv:UnspecifiedMatching -OMIM:194539 ZNF32 skos:exactMatch hgnc:ZNF32 semapv:UnspecifiedMatching +OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:13095 semapv:UnspecifiedMatching +OMIM:194539 ZNF32 skos:exactMatch hgnc.symbol:ZNF32 semapv:UnspecifiedMatching OMIM:194539 ZNF32 skos:exactMatch ncbigene:7580 semapv:UnspecifiedMatching -OMIM:194540 HIVEP1 skos:exactMatch hgnc:HIVEP1 semapv:UnspecifiedMatching +OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:4920 semapv:UnspecifiedMatching +OMIM:194540 HIVEP1 skos:exactMatch hgnc.symbol:HIVEP1 semapv:UnspecifiedMatching OMIM:194540 HIVEP1 skos:exactMatch ncbigene:3096 semapv:UnspecifiedMatching -OMIM:194541 ZBTB25 skos:exactMatch hgnc:ZBTB25 semapv:UnspecifiedMatching +OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:13112 semapv:UnspecifiedMatching +OMIM:194541 ZBTB25 skos:exactMatch hgnc.symbol:ZBTB25 semapv:UnspecifiedMatching OMIM:194541 ZBTB25 skos:exactMatch ncbigene:7597 semapv:UnspecifiedMatching -OMIM:194542 ZNF44 skos:exactMatch hgnc:ZNF44 semapv:UnspecifiedMatching +OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:13110 semapv:UnspecifiedMatching +OMIM:194542 ZNF44 skos:exactMatch hgnc.symbol:ZNF44 semapv:UnspecifiedMatching OMIM:194542 ZNF44 skos:exactMatch ncbigene:51710 semapv:UnspecifiedMatching -OMIM:194543 ZNF69 skos:exactMatch hgnc:ZNF69 semapv:UnspecifiedMatching +OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:13138 semapv:UnspecifiedMatching +OMIM:194543 ZNF69 skos:exactMatch hgnc.symbol:ZNF69 semapv:UnspecifiedMatching OMIM:194543 ZNF69 skos:exactMatch ncbigene:7620 semapv:UnspecifiedMatching -OMIM:194544 ZNF70 skos:exactMatch hgnc:ZNF70 semapv:UnspecifiedMatching +OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:13140 semapv:UnspecifiedMatching +OMIM:194544 ZNF70 skos:exactMatch hgnc.symbol:ZNF70 semapv:UnspecifiedMatching OMIM:194544 ZNF70 skos:exactMatch ncbigene:7621 semapv:UnspecifiedMatching -OMIM:194545 ZNF71 skos:exactMatch hgnc:ZNF71 semapv:UnspecifiedMatching +OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:13141 semapv:UnspecifiedMatching +OMIM:194545 ZNF71 skos:exactMatch hgnc.symbol:ZNF71 semapv:UnspecifiedMatching OMIM:194545 ZNF71 skos:exactMatch ncbigene:58491 semapv:UnspecifiedMatching -OMIM:194546 ZNF72 skos:exactMatch hgnc:ZNF72P semapv:UnspecifiedMatching +OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:13142 semapv:UnspecifiedMatching +OMIM:194546 ZNF72 skos:exactMatch hgnc.symbol:ZNF72P semapv:UnspecifiedMatching OMIM:194546 ZNF72 skos:exactMatch ncbigene:100287084 semapv:UnspecifiedMatching -OMIM:194547 ZNF73 skos:exactMatch hgnc:ZNF73P semapv:UnspecifiedMatching +OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:13143 semapv:UnspecifiedMatching +OMIM:194547 ZNF73 skos:exactMatch hgnc.symbol:ZNF73P semapv:UnspecifiedMatching OMIM:194547 ZNF73 skos:exactMatch ncbigene:105379427 semapv:UnspecifiedMatching -OMIM:194548 ZNF74 skos:exactMatch hgnc:ZNF74 semapv:UnspecifiedMatching +OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:13144 semapv:UnspecifiedMatching +OMIM:194548 ZNF74 skos:exactMatch hgnc.symbol:ZNF74 semapv:UnspecifiedMatching OMIM:194548 ZNF74 skos:exactMatch ncbigene:7625 semapv:UnspecifiedMatching -OMIM:194549 ZNF76 skos:exactMatch hgnc:ZNF76 semapv:UnspecifiedMatching +OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:13149 semapv:UnspecifiedMatching +OMIM:194549 ZNF76 skos:exactMatch hgnc.symbol:ZNF76 semapv:UnspecifiedMatching OMIM:194549 ZNF76 skos:exactMatch ncbigene:7629 semapv:UnspecifiedMatching -OMIM:194550 MZF1 skos:exactMatch hgnc:MZF1 semapv:UnspecifiedMatching +OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:13108 semapv:UnspecifiedMatching +OMIM:194550 MZF1 skos:exactMatch hgnc.symbol:MZF1 semapv:UnspecifiedMatching OMIM:194550 MZF1 skos:exactMatch ncbigene:7593 semapv:UnspecifiedMatching -OMIM:194551 ZNF77 skos:exactMatch hgnc:ZNF77 semapv:UnspecifiedMatching +OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:13150 semapv:UnspecifiedMatching +OMIM:194551 ZNF77 skos:exactMatch hgnc.symbol:ZNF77 semapv:UnspecifiedMatching OMIM:194551 ZNF77 skos:exactMatch ncbigene:58492 semapv:UnspecifiedMatching -OMIM:194552 ZNF79 skos:exactMatch hgnc:ZNF79 semapv:UnspecifiedMatching +OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:13153 semapv:UnspecifiedMatching +OMIM:194552 ZNF79 skos:exactMatch hgnc.symbol:ZNF79 semapv:UnspecifiedMatching OMIM:194552 ZNF79 skos:exactMatch ncbigene:7633 semapv:UnspecifiedMatching -OMIM:194553 ZNF80 skos:exactMatch hgnc:ZNF80 semapv:UnspecifiedMatching +OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:13155 semapv:UnspecifiedMatching +OMIM:194553 ZNF80 skos:exactMatch hgnc.symbol:ZNF80 semapv:UnspecifiedMatching OMIM:194553 ZNF80 skos:exactMatch ncbigene:7634 semapv:UnspecifiedMatching -OMIM:194554 ZNF45 skos:exactMatch hgnc:ZNF45 semapv:UnspecifiedMatching +OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:13111 semapv:UnspecifiedMatching +OMIM:194554 ZNF45 skos:exactMatch hgnc.symbol:ZNF45 semapv:UnspecifiedMatching OMIM:194554 ZNF45 skos:exactMatch ncbigene:7596 semapv:UnspecifiedMatching -OMIM:194555 ZNF224 skos:exactMatch hgnc:ZNF224 semapv:UnspecifiedMatching +OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:13017 semapv:UnspecifiedMatching +OMIM:194555 ZNF224 skos:exactMatch hgnc.symbol:ZNF224 semapv:UnspecifiedMatching OMIM:194555 ZNF224 skos:exactMatch ncbigene:7767 semapv:UnspecifiedMatching -OMIM:194556 ZNF14 skos:exactMatch hgnc:ZNF14 semapv:UnspecifiedMatching +OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:12924 semapv:UnspecifiedMatching +OMIM:194556 ZNF14 skos:exactMatch hgnc.symbol:ZNF14 semapv:UnspecifiedMatching OMIM:194556 ZNF14 skos:exactMatch ncbigene:7561 semapv:UnspecifiedMatching -OMIM:194557 ZNF20 skos:exactMatch hgnc:ZNF20 semapv:UnspecifiedMatching +OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:12992 semapv:UnspecifiedMatching +OMIM:194557 ZNF20 skos:exactMatch hgnc.symbol:ZNF20 semapv:UnspecifiedMatching OMIM:194557 ZNF20 skos:exactMatch ncbigene:7568 semapv:UnspecifiedMatching -OMIM:194558 ZNF83 skos:exactMatch hgnc:ZNF83 semapv:UnspecifiedMatching +OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:13158 semapv:UnspecifiedMatching +OMIM:194558 ZNF83 skos:exactMatch hgnc.symbol:ZNF83 semapv:UnspecifiedMatching OMIM:194558 ZNF83 skos:exactMatch ncbigene:55769 semapv:UnspecifiedMatching -OMIM:194624 ZNF117 skos:exactMatch hgnc:ZNF117 semapv:UnspecifiedMatching +OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:12897 semapv:UnspecifiedMatching +OMIM:194624 ZNF117 skos:exactMatch hgnc.symbol:ZNF117 semapv:UnspecifiedMatching OMIM:194624 ZNF117 skos:exactMatch ncbigene:51351 semapv:UnspecifiedMatching -OMIM:194628 ZNF121 skos:exactMatch hgnc:ZNF121 semapv:UnspecifiedMatching +OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:12904 semapv:UnspecifiedMatching +OMIM:194628 ZNF121 skos:exactMatch hgnc.symbol:ZNF121 semapv:UnspecifiedMatching OMIM:194628 ZNF121 skos:exactMatch ncbigene:7675 semapv:UnspecifiedMatching -OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc:ZNF123P semapv:UnspecifiedMatching -OMIM:194631 ZNF124 skos:exactMatch hgnc:ZNF124 semapv:UnspecifiedMatching +OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:12906 semapv:UnspecifiedMatching +OMIM:194630 zinc finger protein 123, pseudogene skos:exactMatch hgnc.symbol:ZNF123P semapv:UnspecifiedMatching +OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:12907 semapv:UnspecifiedMatching +OMIM:194631 ZNF124 skos:exactMatch hgnc.symbol:ZNF124 semapv:UnspecifiedMatching OMIM:194631 ZNF124 skos:exactMatch ncbigene:7678 semapv:UnspecifiedMatching -OMIM:194648 ZNF141 skos:exactMatch hgnc:ZNF141 semapv:UnspecifiedMatching +OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:12926 semapv:UnspecifiedMatching +OMIM:194648 ZNF141 skos:exactMatch hgnc.symbol:ZNF141 semapv:UnspecifiedMatching OMIM:194648 ZNF141 skos:exactMatch ncbigene:7700 semapv:UnspecifiedMatching OMIM:195000 ZP1 skos:exactMatch UMLS:C1421864 semapv:UnspecifiedMatching OMIM:195000 ZP1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching -OMIM:195000 ZP1 skos:exactMatch hgnc:ZP1 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:13187 semapv:UnspecifiedMatching +OMIM:195000 ZP1 skos:exactMatch hgnc.symbol:ZP1 semapv:UnspecifiedMatching OMIM:195000 ZP1 skos:exactMatch ncbigene:22917 semapv:UnspecifiedMatching -OMIM:200350 ACACA skos:exactMatch hgnc:ACACA semapv:UnspecifiedMatching +OMIM:200350 ACACA skos:exactMatch hgnc.symbol:84 semapv:UnspecifiedMatching +OMIM:200350 ACACA skos:exactMatch hgnc.symbol:ACACA semapv:UnspecifiedMatching OMIM:200350 ACACA skos:exactMatch ncbigene:31 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:932 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93296 semapv:UnspecifiedMatching +OMIM:200610 achondrogenesis, iia 2 skos:exactMatch Orphanet:93297 semapv:UnspecifiedMatching OMIM:200610 achondrogenesis, iia 2 skos:exactMatch UMLS:C0220685 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch orphanet.ordo:932 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch orphanet.ordo:93296 semapv:UnspecifiedMatching -OMIM:200610 achondrogenesis, iia 2 skos:exactMatch orphanet.ordo:93297 semapv:UnspecifiedMatching +OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:418 semapv:UnspecifiedMatching +OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 semapv:UnspecifiedMatching OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch UMLS:C2936858 semapv:UnspecifiedMatching -OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch orphanet.ordo:418 semapv:UnspecifiedMatching -OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency skos:exactMatch orphanet.ordo:90794 semapv:UnspecifiedMatching +OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch UMLS:C1859966 semapv:UnspecifiedMatching -OMIM:202700 neutropenia, severe congenital, 1, autosomal dominant skos:exactMatch orphanet.ordo:486 semapv:UnspecifiedMatching +OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching +OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching -OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch orphanet.ordo:231500 semapv:UnspecifiedMatching -OMIM:203300 hermansky-pudlak syndrome 1 skos:exactMatch orphanet.ordo:79430 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:363717 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:363722 semapv:UnspecifiedMatching +OMIM:203450 alexander disease skos:exactMatch Orphanet:58 semapv:UnspecifiedMatching OMIM:203450 alexander disease skos:exactMatch UMLS:C0270726 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch orphanet.ordo:363717 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch orphanet.ordo:363722 semapv:UnspecifiedMatching -OMIM:203450 alexander disease skos:exactMatch orphanet.ordo:58 semapv:UnspecifiedMatching +OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C1859878 semapv:UnspecifiedMatching OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch UMLS:C4551986 semapv:UnspecifiedMatching -OMIM:203650 alopecia-intellectual disability syndrome 1 skos:exactMatch orphanet.ordo:2850 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:228346 semapv:UnspecifiedMatching +OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching -OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch orphanet.ordo:228346 semapv:UnspecifiedMatching -OMIM:204200 ceroid lipofuscinosis, neuronal, 3 skos:exactMatch orphanet.ordo:79264 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:228340 semapv:UnspecifiedMatching +OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching -OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch orphanet.ordo:228340 semapv:UnspecifiedMatching -OMIM:204300 ceroid lipofuscinosis, neuronal, 6b (kufs type) skos:exactMatch orphanet.ordo:79262 semapv:UnspecifiedMatching +OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch Orphanet:300605 semapv:UnspecifiedMatching OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching -OMIM:205100 amyotrophic lateral sclerosis 2, juvenile skos:exactMatch orphanet.ordo:300605 semapv:UnspecifiedMatching +OMIM:207800 argininemia skos:exactMatch Orphanet:90 semapv:UnspecifiedMatching OMIM:207800 argininemia skos:exactMatch UMLS:C0268548 semapv:UnspecifiedMatching -OMIM:207800 argininemia skos:exactMatch orphanet.ordo:90 semapv:UnspecifiedMatching +OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch Orphanet:51608 semapv:UnspecifiedMatching OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C1859727 semapv:UnspecifiedMatching OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch UMLS:C4551985 semapv:UnspecifiedMatching -OMIM:208000 arterial calcification, generalized, of infancy, 1 skos:exactMatch orphanet.ordo:51608 semapv:UnspecifiedMatching +OMIM:208050 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 semapv:UnspecifiedMatching OMIM:208050 arterial tortuosity syndrome skos:exactMatch UMLS:C1859726 semapv:UnspecifiedMatching -OMIM:208050 arterial tortuosity syndrome skos:exactMatch orphanet.ordo:3342 semapv:UnspecifiedMatching OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies skos:exactMatch UMLS:C1859723 semapv:UnspecifiedMatching +OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch Orphanet:1143 semapv:UnspecifiedMatching OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C1859721 semapv:UnspecifiedMatching OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching -OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic iia skos:exactMatch orphanet.ordo:1143 semapv:UnspecifiedMatching +OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch UMLS:C1276035 semapv:UnspecifiedMatching -OMIM:208150 fetal akinesia deformation sequence 1 skos:exactMatch orphanet.ordo:994 semapv:UnspecifiedMatching +OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch Orphanet:1159 semapv:UnspecifiedMatching OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch UMLS:C0432215 semapv:UnspecifiedMatching -OMIM:208230 progressive pseudorheumatoid dysplasia skos:exactMatch orphanet.ordo:1159 semapv:UnspecifiedMatching +OMIM:208400 aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:UnspecifiedMatching OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C2931840 semapv:UnspecifiedMatching -OMIM:208400 aspartylglucosaminuria skos:exactMatch orphanet.ordo:93 semapv:UnspecifiedMatching +OMIM:208530 right atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C0175707 semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching -OMIM:208530 right atrial isomerism skos:exactMatch orphanet.ordo:97548 semapv:UnspecifiedMatching +OMIM:208900 ataxia-telangiectasia skos:exactMatch Orphanet:100 semapv:UnspecifiedMatching OMIM:208900 ataxia-telangiectasia skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching -OMIM:208900 ataxia-telangiectasia skos:exactMatch orphanet.ordo:100 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C0004352 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C1510586 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching +OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch orphanet.ordo:661 semapv:UnspecifiedMatching -OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch orphanet.ordo:99803 semapv:UnspecifiedMatching -OMIM:209901 BBS1 skos:exactMatch hgnc:BBS1 semapv:UnspecifiedMatching +OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:966 semapv:UnspecifiedMatching +OMIM:209901 BBS1 skos:exactMatch hgnc.symbol:BBS1 semapv:UnspecifiedMatching OMIM:209901 BBS1 skos:exactMatch ncbigene:582 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:319569 semapv:UnspecifiedMatching +OMIM:209950 immunodeficiency 27a skos:exactMatch Orphanet:99898 semapv:UnspecifiedMatching OMIM:209950 immunodeficiency 27a skos:exactMatch UMLS:C4011949 semapv:UnspecifiedMatching -OMIM:209950 immunodeficiency 27a skos:exactMatch orphanet.ordo:319569 semapv:UnspecifiedMatching -OMIM:209950 immunodeficiency 27a skos:exactMatch orphanet.ordo:99898 semapv:UnspecifiedMatching OMIM:210000 behr syndrome skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:101022 semapv:UnspecifiedMatching +OMIM:210250 sitosterolemia 1 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C0342907 semapv:UnspecifiedMatching OMIM:210250 sitosterolemia 1 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch orphanet.ordo:101022 semapv:UnspecifiedMatching -OMIM:210250 sitosterolemia 1 skos:exactMatch orphanet.ordo:2882 semapv:UnspecifiedMatching +OMIM:210600 seckel syndrome 1 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching OMIM:210600 seckel syndrome 1 skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching -OMIM:210600 seckel syndrome 1 skos:exactMatch orphanet.ordo:808 semapv:UnspecifiedMatching +OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch Orphanet:2636 semapv:UnspecifiedMatching OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching -OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 skos:exactMatch orphanet.ordo:2636 semapv:UnspecifiedMatching -OMIM:211100 FUT1 skos:exactMatch hgnc:FUT1 semapv:UnspecifiedMatching +OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:4012 semapv:UnspecifiedMatching +OMIM:211100 FUT1 skos:exactMatch hgnc.symbol:FUT1 semapv:UnspecifiedMatching OMIM:211100 FUT1 skos:exactMatch ncbigene:2523 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching +OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C1876187 semapv:UnspecifiedMatching OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch UMLS:C4692564 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch orphanet.ordo:306661 semapv:UnspecifiedMatching -OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:exactMatch orphanet.ordo:53715 semapv:UnspecifiedMatching +OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch Orphanet:1327 semapv:UnspecifiedMatching OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch UMLS:C1859359 semapv:UnspecifiedMatching -OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 skos:exactMatch orphanet.ordo:1327 semapv:UnspecifiedMatching +OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch Orphanet:79318 semapv:UnspecifiedMatching OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching -OMIM:212065 congenital disorder of glycosylation, iia ia skos:exactMatch orphanet.ordo:79318 semapv:UnspecifiedMatching +OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch Orphanet:79329 semapv:UnspecifiedMatching OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch UMLS:C2931008 semapv:UnspecifiedMatching -OMIM:212066 congenital disorder of glycosylation, iia iia skos:exactMatch orphanet.ordo:79329 semapv:UnspecifiedMatching +OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch Orphanet:158 semapv:UnspecifiedMatching OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching -OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch orphanet.ordo:158 semapv:UnspecifiedMatching +OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching -OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching OMIM:212750 celiac disease, susceptibility to, 1 skos:exactMatch UMLS:C1859310 semapv:UnspecifiedMatching +OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch Orphanet:2246 semapv:UnspecifiedMatching OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching -OMIM:213000 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch orphanet.ordo:2246 semapv:UnspecifiedMatching +OMIM:213300 joubert syndrome 1 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C0431399 semapv:UnspecifiedMatching OMIM:213300 joubert syndrome 1 skos:exactMatch UMLS:C4551568 semapv:UnspecifiedMatching -OMIM:213300 joubert syndrome 1 skos:exactMatch orphanet.ordo:475 semapv:UnspecifiedMatching +OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch UMLS:C4551624 semapv:UnspecifiedMatching -OMIM:213600 basal ganglia calcification, idiopathic, 1 skos:exactMatch orphanet.ordo:1980 semapv:UnspecifiedMatching +OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch Orphanet:1394 semapv:UnspecifiedMatching OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching -OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch orphanet.ordo:1394 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching +OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching -OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch orphanet.ordo:1466 semapv:UnspecifiedMatching -OMIM:214150 cerebrooculofacioskeletal syndrome 1 skos:exactMatch orphanet.ordo:191 semapv:UnspecifiedMatching +OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch Orphanet:99948 semapv:UnspecifiedMatching OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch UMLS:C1859198 semapv:UnspecifiedMatching -OMIM:214400 charcot-marie-tooth disease, iia 4a skos:exactMatch orphanet.ordo:99948 semapv:UnspecifiedMatching +OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch Orphanet:53689 semapv:UnspecifiedMatching OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching -OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch orphanet.ordo:53689 semapv:UnspecifiedMatching +OMIM:215300 chondrosarcoma skos:exactMatch Orphanet:55880 semapv:UnspecifiedMatching OMIM:215300 chondrosarcoma skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching -OMIM:215300 chondrosarcoma skos:exactMatch orphanet.ordo:55880 semapv:UnspecifiedMatching +OMIM:216340 yunis-varon syndrome skos:exactMatch Orphanet:3472 semapv:UnspecifiedMatching OMIM:216340 yunis-varon syndrome skos:exactMatch UMLS:C1857663 semapv:UnspecifiedMatching -OMIM:216340 yunis-varon syndrome skos:exactMatch orphanet.ordo:3472 semapv:UnspecifiedMatching +OMIM:216360 coach syndrome 1 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C1857662 semapv:UnspecifiedMatching OMIM:216360 coach syndrome 1 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching -OMIM:216360 coach syndrome 1 skos:exactMatch orphanet.ordo:1454 semapv:UnspecifiedMatching +OMIM:216550 cohen syndrome skos:exactMatch Orphanet:193 semapv:UnspecifiedMatching OMIM:216550 cohen syndrome skos:exactMatch UMLS:C0265223 semapv:UnspecifiedMatching -OMIM:216550 cohen syndrome skos:exactMatch orphanet.ordo:193 semapv:UnspecifiedMatching -OMIM:217030 CFI skos:exactMatch hgnc:CFI semapv:UnspecifiedMatching +OMIM:217030 CFI skos:exactMatch hgnc.symbol:5394 semapv:UnspecifiedMatching +OMIM:217030 CFI skos:exactMatch hgnc.symbol:CFI semapv:UnspecifiedMatching OMIM:217030 CFI skos:exactMatch ncbigene:3426 semapv:UnspecifiedMatching -OMIM:217050 C6 skos:exactMatch hgnc:C6 semapv:UnspecifiedMatching +OMIM:217050 C6 skos:exactMatch hgnc.symbol:1339 semapv:UnspecifiedMatching +OMIM:217050 C6 skos:exactMatch hgnc.symbol:C6 semapv:UnspecifiedMatching OMIM:217050 C6 skos:exactMatch ncbigene:729 semapv:UnspecifiedMatching OMIM:217070 C7 skos:exactMatch UMLS:C1413019 semapv:UnspecifiedMatching OMIM:217070 C7 skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching OMIM:217070 C7 skos:exactMatch UMLS:C4017564 semapv:UnspecifiedMatching -OMIM:217070 C7 skos:exactMatch hgnc:C7 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch hgnc.symbol:1346 semapv:UnspecifiedMatching +OMIM:217070 C7 skos:exactMatch hgnc.symbol:C7 semapv:UnspecifiedMatching OMIM:217070 C7 skos:exactMatch ncbigene:730 semapv:UnspecifiedMatching +OMIM:217080 jalili syndrome skos:exactMatch Orphanet:1873 semapv:UnspecifiedMatching OMIM:217080 jalili syndrome skos:exactMatch UMLS:C3495589 semapv:UnspecifiedMatching -OMIM:217080 jalili syndrome skos:exactMatch orphanet.ordo:1873 semapv:UnspecifiedMatching +OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch Orphanet:1338 semapv:UnspecifiedMatching OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching -OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch orphanet.ordo:1338 semapv:UnspecifiedMatching +OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch Orphanet:1490 semapv:UnspecifiedMatching OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch UMLS:C1857572 semapv:UnspecifiedMatching -OMIM:217400 corneal dystrophy and perceptive deafness skos:exactMatch orphanet.ordo:1490 semapv:UnspecifiedMatching +OMIM:218040 costello syndrome skos:exactMatch Orphanet:3071 semapv:UnspecifiedMatching OMIM:218040 costello syndrome skos:exactMatch UMLS:C0587248 semapv:UnspecifiedMatching OMIM:218040 costello syndrome skos:exactMatch UMLS:C1968782 semapv:UnspecifiedMatching -OMIM:218040 costello syndrome skos:exactMatch orphanet.ordo:3071 semapv:UnspecifiedMatching +OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching -OMIM:218330 cranioectodermal dysplasia 1 skos:exactMatch orphanet.ordo:1515 semapv:UnspecifiedMatching +OMIM:219500 cystathioninuria skos:exactMatch Orphanet:212 semapv:UnspecifiedMatching OMIM:219500 cystathioninuria skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching OMIM:219500 cystathioninuria skos:exactMatch UMLS:C3495552 semapv:UnspecifiedMatching -OMIM:219500 cystathioninuria skos:exactMatch orphanet.ordo:212 semapv:UnspecifiedMatching +OMIM:219700 cystic fibrosis skos:exactMatch Orphanet:586 semapv:UnspecifiedMatching OMIM:219700 cystic fibrosis skos:exactMatch UMLS:C0010674 semapv:UnspecifiedMatching -OMIM:219700 cystic fibrosis skos:exactMatch orphanet.ordo:586 semapv:UnspecifiedMatching +OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C0268237 semapv:UnspecifiedMatching OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching -OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching -OMIM:220111 mitochondrial complex 4 deficiency, nuclear iia 5 skos:exactMatch orphanet.ordo:70472 semapv:UnspecifiedMatching +OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C4551776 semapv:UnspecifiedMatching -OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch orphanet.ordo:7 semapv:UnspecifiedMatching OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C0011854 semapv:UnspecifiedMatching OMIM:222100 iia 1 diabetes mellitus skos:exactMatch UMLS:C5435660 semapv:UnspecifiedMatching -OMIM:222745 DECR1 skos:exactMatch hgnc:DECR1 semapv:UnspecifiedMatching +OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:2753 semapv:UnspecifiedMatching +OMIM:222745 DECR1 skos:exactMatch hgnc.symbol:DECR1 semapv:UnspecifiedMatching OMIM:222745 DECR1 skos:exactMatch ncbigene:1666 semapv:UnspecifiedMatching +OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch Orphanet:38874 semapv:UnspecifiedMatching OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch UMLS:C3495551 semapv:UnspecifiedMatching -OMIM:222748 dihydropyrimidinase deficiency skos:exactMatch orphanet.ordo:38874 semapv:UnspecifiedMatching +OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch Orphanet:714 semapv:UnspecifiedMatching OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching -OMIM:222800 erythrocytosis, familial, 8 skos:exactMatch orphanet.ordo:714 semapv:UnspecifiedMatching +OMIM:223360 orthostatic hypotension 1 skos:exactMatch Orphanet:230 semapv:UnspecifiedMatching OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C0342687 semapv:UnspecifiedMatching OMIM:223360 orthostatic hypotension 1 skos:exactMatch UMLS:C4746777 semapv:UnspecifiedMatching -OMIM:223360 orthostatic hypotension 1 skos:exactMatch orphanet.ordo:230 semapv:UnspecifiedMatching +OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch Orphanet:239 semapv:UnspecifiedMatching OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch UMLS:C0265286 semapv:UnspecifiedMatching -OMIM:223800 dyggve-melchior-clausen disease skos:exactMatch orphanet.ordo:239 semapv:UnspecifiedMatching +OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch Orphanet:1764 semapv:UnspecifiedMatching OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching -OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 skos:exactMatch orphanet.ordo:1764 semapv:UnspecifiedMatching +OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch Orphanet:1865 semapv:UnspecifiedMatching OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch UMLS:C1857100 semapv:UnspecifiedMatching -OMIM:224410 dyssegmental dysplasia, silverman-handmaker iia skos:exactMatch orphanet.ordo:1865 semapv:UnspecifiedMatching +OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch Orphanet:50944 semapv:UnspecifiedMatching OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching -OMIM:224750 schopf-schulz-passarge syndrome skos:exactMatch orphanet.ordo:50944 semapv:UnspecifiedMatching OMIM:225000 rosselli-gulienetti syndrome skos:exactMatch UMLS:C0796139 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching +OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 semapv:UnspecifiedMatching OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C1833538 semapv:UnspecifiedMatching OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch UMLS:C2931488 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch orphanet.ordo:141291 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch orphanet.ordo:199302 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching -OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch orphanet.ordo:3253 semapv:UnspecifiedMatching +OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch Orphanet:1897 semapv:UnspecifiedMatching OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch UMLS:C1857041 semapv:UnspecifiedMatching -OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch orphanet.ordo:1897 semapv:UnspecifiedMatching +OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch Orphanet:221126 semapv:UnspecifiedMatching OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C1856972 semapv:UnspecifiedMatching OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch UMLS:C3203738 semapv:UnspecifiedMatching -OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch orphanet.ordo:221126 semapv:UnspecifiedMatching +OMIM:226200 enterokinase deficiency skos:exactMatch Orphanet:168601 semapv:UnspecifiedMatching OMIM:226200 enterokinase deficiency skos:exactMatch UMLS:C0268416 semapv:UnspecifiedMatching -OMIM:226200 enterokinase deficiency skos:exactMatch orphanet.ordo:168601 semapv:UnspecifiedMatching +OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch Orphanet:566175 semapv:UnspecifiedMatching OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch UMLS:C4538570 semapv:UnspecifiedMatching -OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy skos:exactMatch orphanet.ordo:566175 semapv:UnspecifiedMatching +OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch Orphanet:79404 semapv:UnspecifiedMatching OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch UMLS:C0079683 semapv:UnspecifiedMatching -OMIM:226700 epidermolysis bullosa, junctional 1b, severe skos:exactMatch orphanet.ordo:79404 semapv:UnspecifiedMatching +OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch Orphanet:79403 semapv:UnspecifiedMatching OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch UMLS:C1856934 semapv:UnspecifiedMatching -OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia skos:exactMatch orphanet.ordo:79403 semapv:UnspecifiedMatching +OMIM:226960 lowry-wood syndrome skos:exactMatch Orphanet:1824 semapv:UnspecifiedMatching OMIM:226960 lowry-wood syndrome skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching -OMIM:226960 lowry-wood syndrome skos:exactMatch orphanet.ordo:1824 semapv:UnspecifiedMatching +OMIM:227400 factor 5 deficiency skos:exactMatch Orphanet:326 semapv:UnspecifiedMatching OMIM:227400 factor 5 deficiency skos:exactMatch UMLS:C0015499 semapv:UnspecifiedMatching -OMIM:227400 factor 5 deficiency skos:exactMatch orphanet.ordo:326 semapv:UnspecifiedMatching +OMIM:228000 farber lipogranulomatosis skos:exactMatch Orphanet:333 semapv:UnspecifiedMatching OMIM:228000 farber lipogranulomatosis skos:exactMatch UMLS:C0268255 semapv:UnspecifiedMatching -OMIM:228000 farber lipogranulomatosis skos:exactMatch orphanet.ordo:333 semapv:UnspecifiedMatching +OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch Orphanet:2591 semapv:UnspecifiedMatching OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C0432284 semapv:UnspecifiedMatching OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch UMLS:C4551572 semapv:UnspecifiedMatching -OMIM:228550 myofibromatosis, infantile, 1 skos:exactMatch orphanet.ordo:2591 semapv:UnspecifiedMatching +OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch Orphanet:2639 semapv:UnspecifiedMatching OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch UMLS:C1856738 semapv:UnspecifiedMatching -OMIM:228900 acromesomelic dysplasia 2b skos:exactMatch orphanet.ordo:2639 semapv:UnspecifiedMatching -OMIM:229000 KLKB1 skos:exactMatch hgnc:KLKB1 semapv:UnspecifiedMatching +OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:6371 semapv:UnspecifiedMatching +OMIM:229000 KLKB1 skos:exactMatch hgnc.symbol:KLKB1 semapv:UnspecifiedMatching OMIM:229000 KLKB1 skos:exactMatch ncbigene:3818 semapv:UnspecifiedMatching +OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch Orphanet:51208 semapv:UnspecifiedMatching OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching -OMIM:229100 glutamate formiminotransferase deficiency skos:exactMatch orphanet.ordo:51208 semapv:UnspecifiedMatching +OMIM:229600 fructose intolerance, hereditary skos:exactMatch Orphanet:469 semapv:UnspecifiedMatching OMIM:229600 fructose intolerance, hereditary skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching -OMIM:229600 fructose intolerance, hereditary skos:exactMatch orphanet.ordo:469 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230200 galactosemia 2 skos:exactMatch Orphanet:79237 semapv:UnspecifiedMatching OMIM:230200 galactosemia 2 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch orphanet.ordo:352 semapv:UnspecifiedMatching -OMIM:230200 galactosemia 2 skos:exactMatch orphanet.ordo:79237 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308473 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:308487 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230350 galactosemia 3 skos:exactMatch Orphanet:79238 semapv:UnspecifiedMatching OMIM:230350 galactosemia 3 skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch orphanet.ordo:308473 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch orphanet.ordo:308487 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch orphanet.ordo:352 semapv:UnspecifiedMatching -OMIM:230350 galactosemia 3 skos:exactMatch orphanet.ordo:79238 semapv:UnspecifiedMatching +OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching +OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching OMIM:230400 galactosemia 1 skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching -OMIM:230400 galactosemia 1 skos:exactMatch orphanet.ordo:352 semapv:UnspecifiedMatching -OMIM:230400 galactosemia 1 skos:exactMatch orphanet.ordo:79239 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:230800 gaucher disease, iia 1 skos:exactMatch Orphanet:77259 semapv:UnspecifiedMatching OMIM:230800 gaucher disease, iia 1 skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching -OMIM:230800 gaucher disease, iia 1 skos:exactMatch orphanet.ordo:355 semapv:UnspecifiedMatching -OMIM:230800 gaucher disease, iia 1 skos:exactMatch orphanet.ordo:77259 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:230900 gaucher disease, iia 2 skos:exactMatch Orphanet:77260 semapv:UnspecifiedMatching OMIM:230900 gaucher disease, iia 2 skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch orphanet.ordo:355 semapv:UnspecifiedMatching -OMIM:230900 gaucher disease, iia 2 skos:exactMatch orphanet.ordo:77260 semapv:UnspecifiedMatching +OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:231000 gaucher disease, iia 3 skos:exactMatch Orphanet:77261 semapv:UnspecifiedMatching OMIM:231000 gaucher disease, iia 3 skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching -OMIM:231000 gaucher disease, iia 3 skos:exactMatch orphanet.ordo:355 semapv:UnspecifiedMatching -OMIM:231000 gaucher disease, iia 3 skos:exactMatch orphanet.ordo:77261 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:2072 semapv:UnspecifiedMatching +OMIM:231005 gaucher disease, iia 3c skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching OMIM:231005 gaucher disease, iia 3c skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch orphanet.ordo:2072 semapv:UnspecifiedMatching -OMIM:231005 gaucher disease, iia 3c skos:exactMatch orphanet.ordo:355 semapv:UnspecifiedMatching +OMIM:231070 geroderma osteodysplasticum skos:exactMatch Orphanet:2078 semapv:UnspecifiedMatching OMIM:231070 geroderma osteodysplasticum skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching -OMIM:231070 geroderma osteodysplasticum skos:exactMatch orphanet.ordo:2078 semapv:UnspecifiedMatching +OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 semapv:UnspecifiedMatching OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch UMLS:C1856465 semapv:UnspecifiedMatching -OMIM:231095 ghosal hematodiaphyseal dysplasia skos:exactMatch orphanet.ordo:1802 semapv:UnspecifiedMatching -OMIM:231675 ETFDH skos:exactMatch hgnc:ETFDH semapv:UnspecifiedMatching +OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:3483 semapv:UnspecifiedMatching +OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:ETFDH semapv:UnspecifiedMatching OMIM:231675 ETFDH skos:exactMatch ncbigene:2110 semapv:UnspecifiedMatching OMIM:231970 gluteal muscles, absence of skos:exactMatch UMLS:C1856398 semapv:UnspecifiedMatching OMIM:232000 PCCA skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching OMIM:232000 PCCA skos:exactMatch UMLS:C1418303 semapv:UnspecifiedMatching -OMIM:232000 PCCA skos:exactMatch hgnc:PCCA semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch hgnc.symbol:8653 semapv:UnspecifiedMatching +OMIM:232000 PCCA skos:exactMatch hgnc.symbol:PCCA semapv:UnspecifiedMatching OMIM:232000 PCCA skos:exactMatch ncbigene:5095 semapv:UnspecifiedMatching OMIM:232050 PCCB skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching OMIM:232050 PCCB skos:exactMatch UMLS:C1418304 semapv:UnspecifiedMatching -OMIM:232050 PCCB skos:exactMatch hgnc:PCCB semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch hgnc.symbol:8654 semapv:UnspecifiedMatching +OMIM:232050 PCCB skos:exactMatch hgnc.symbol:PCCB semapv:UnspecifiedMatching OMIM:232050 PCCB skos:exactMatch ncbigene:5096 semapv:UnspecifiedMatching +OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching +OMIM:232200 glycogen storage disease ia skos:exactMatch Orphanet:79258 semapv:UnspecifiedMatching OMIM:232200 glycogen storage disease ia skos:exactMatch UMLS:C2919796 semapv:UnspecifiedMatching -OMIM:232200 glycogen storage disease ia skos:exactMatch orphanet.ordo:364 semapv:UnspecifiedMatching -OMIM:232200 glycogen storage disease ia skos:exactMatch orphanet.ordo:79258 semapv:UnspecifiedMatching +OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:364 semapv:UnspecifiedMatching +OMIM:232220 glycogen storage disease ib skos:exactMatch Orphanet:79259 semapv:UnspecifiedMatching OMIM:232220 glycogen storage disease ib skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching -OMIM:232220 glycogen storage disease ib skos:exactMatch orphanet.ordo:364 semapv:UnspecifiedMatching -OMIM:232220 glycogen storage disease ib skos:exactMatch orphanet.ordo:79259 semapv:UnspecifiedMatching +OMIM:232300 glycogen storage disease 2 skos:exactMatch Orphanet:365 semapv:UnspecifiedMatching OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C0017921 semapv:UnspecifiedMatching OMIM:232300 glycogen storage disease 2 skos:exactMatch UMLS:C2931347 semapv:UnspecifiedMatching -OMIM:232300 glycogen storage disease 2 skos:exactMatch orphanet.ordo:365 semapv:UnspecifiedMatching +OMIM:232400 glycogen storage disease 3 skos:exactMatch Orphanet:366 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C0017922 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968739 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968740 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968741 semapv:UnspecifiedMatching OMIM:232400 glycogen storage disease 3 skos:exactMatch UMLS:C1968742 semapv:UnspecifiedMatching -OMIM:232400 glycogen storage disease 3 skos:exactMatch orphanet.ordo:366 semapv:UnspecifiedMatching +OMIM:232700 glycogen storage disease 6 skos:exactMatch Orphanet:369 semapv:UnspecifiedMatching OMIM:232700 glycogen storage disease 6 skos:exactMatch UMLS:C0017925 semapv:UnspecifiedMatching -OMIM:232700 glycogen storage disease 6 skos:exactMatch orphanet.ordo:369 semapv:UnspecifiedMatching +OMIM:233100 renal glucosuria skos:exactMatch Orphanet:69076 semapv:UnspecifiedMatching OMIM:233100 renal glucosuria skos:exactMatch UMLS:C0017980 semapv:UnspecifiedMatching -OMIM:233100 renal glucosuria skos:exactMatch orphanet.ordo:69076 semapv:UnspecifiedMatching +OMIM:233420 46,xy sex reversal 7 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching OMIM:233420 46,xy sex reversal 7 skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching -OMIM:233420 46,xy sex reversal 7 skos:exactMatch orphanet.ordo:242 semapv:UnspecifiedMatching +OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching -OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 skos:exactMatch orphanet.ordo:379 semapv:UnspecifiedMatching +OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching -OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 skos:exactMatch orphanet.ordo:379 semapv:UnspecifiedMatching +OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching -OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 skos:exactMatch orphanet.ordo:379 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:157850 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216866 semapv:UnspecifiedMatching +OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch Orphanet:216873 semapv:UnspecifiedMatching OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch UMLS:C0018523 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch orphanet.ordo:157850 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch orphanet.ordo:216866 semapv:UnspecifiedMatching -OMIM:234200 neurodegeneration with brain iron accumulation 1 skos:exactMatch orphanet.ordo:216873 semapv:UnspecifiedMatching +OMIM:234500 hartnup disorder skos:exactMatch Orphanet:2116 semapv:UnspecifiedMatching OMIM:234500 hartnup disorder skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching -OMIM:234500 hartnup disorder skos:exactMatch orphanet.ordo:2116 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching +OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261552 semapv:UnspecifiedMatching OMIM:235730 mowat-wilson syndrome skos:exactMatch UMLS:C1856113 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch orphanet.ordo:2152 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch orphanet.ordo:261537 semapv:UnspecifiedMatching -OMIM:235730 mowat-wilson syndrome skos:exactMatch orphanet.ordo:261552 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch Orphanet:2162 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0078982 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0266667 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching -OMIM:236100 holoprosencephaly 1 skos:exactMatch orphanet.ordo:2162 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C0265221 semapv:UnspecifiedMatching OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch orphanet.ordo:588 semapv:UnspecifiedMatching -OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 skos:exactMatch orphanet.ordo:899 semapv:UnspecifiedMatching OMIM:236690 hydrocephalus, normal-pressure, 1 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:1041 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:163596 semapv:UnspecifiedMatching +OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch Orphanet:363999 semapv:UnspecifiedMatching OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch UMLS:C0455988 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch orphanet.ordo:1041 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch orphanet.ordo:163596 semapv:UnspecifiedMatching -OMIM:236750 hydrops fetalis, nonimmune skos:exactMatch orphanet.ordo:363999 semapv:UnspecifiedMatching +OMIM:236800 hydroxykynureninuria skos:exactMatch Orphanet:79155 semapv:UnspecifiedMatching OMIM:236800 hydroxykynureninuria skos:exactMatch UMLS:C0268474 semapv:UnspecifiedMatching -OMIM:236800 hydroxykynureninuria skos:exactMatch orphanet.ordo:79155 semapv:UnspecifiedMatching -OMIM:238300 GLDC skos:exactMatch hgnc:GLDC semapv:UnspecifiedMatching +OMIM:238300 GLDC skos:exactMatch hgnc.symbol:4313 semapv:UnspecifiedMatching +OMIM:238300 GLDC skos:exactMatch hgnc.symbol:GLDC semapv:UnspecifiedMatching OMIM:238300 GLDC skos:exactMatch ncbigene:2731 semapv:UnspecifiedMatching -OMIM:238310 AMT skos:exactMatch hgnc:AMT semapv:UnspecifiedMatching +OMIM:238310 AMT skos:exactMatch hgnc.symbol:473 semapv:UnspecifiedMatching +OMIM:238310 AMT skos:exactMatch hgnc.symbol:AMT semapv:UnspecifiedMatching OMIM:238310 AMT skos:exactMatch ncbigene:275 semapv:UnspecifiedMatching -OMIM:238330 GCSH skos:exactMatch hgnc:GCSH semapv:UnspecifiedMatching +OMIM:238330 GCSH skos:exactMatch hgnc.symbol:4208 semapv:UnspecifiedMatching +OMIM:238330 GCSH skos:exactMatch hgnc.symbol:GCSH semapv:UnspecifiedMatching OMIM:238330 GCSH skos:exactMatch ncbigene:2653 semapv:UnspecifiedMatching -OMIM:238331 DLD skos:exactMatch hgnc:DLD semapv:UnspecifiedMatching +OMIM:238331 DLD skos:exactMatch hgnc.symbol:2898 semapv:UnspecifiedMatching +OMIM:238331 DLD skos:exactMatch hgnc.symbol:DLD semapv:UnspecifiedMatching OMIM:238331 DLD skos:exactMatch ncbigene:1738 semapv:UnspecifiedMatching +OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch Orphanet:2203 semapv:UnspecifiedMatching OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching -OMIM:238700 hyperlysinemia, iia 1 skos:exactMatch orphanet.ordo:2203 semapv:UnspecifiedMatching +OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch Orphanet:415 semapv:UnspecifiedMatching OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch UMLS:C0268540 semapv:UnspecifiedMatching -OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch orphanet.ordo:415 semapv:UnspecifiedMatching -OMIM:240400 hypoascorbemia skos:exactMatch hgnc:GULOP semapv:UnspecifiedMatching +OMIM:240400 hypoascorbemia skos:exactMatch hgnc.symbol:4695 semapv:UnspecifiedMatching +OMIM:240400 hypoascorbemia skos:exactMatch hgnc.symbol:GULOP semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247623 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:247651 semapv:UnspecifiedMatching +OMIM:241500 hypophosphatasia, infantile skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching OMIM:241500 hypophosphatasia, infantile skos:exactMatch UMLS:C0268412 semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch orphanet.ordo:247623 semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch orphanet.ordo:247651 semapv:UnspecifiedMatching -OMIM:241500 hypophosphatasia, infantile skos:exactMatch orphanet.ordo:436 semapv:UnspecifiedMatching +OMIM:241800 pallister-hall-like syndrome skos:exactMatch Orphanet:2113 semapv:UnspecifiedMatching OMIM:241800 pallister-hall-like syndrome skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching -OMIM:241800 pallister-hall-like syndrome skos:exactMatch orphanet.ordo:2113 semapv:UnspecifiedMatching +OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching -OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch orphanet.ordo:477 semapv:UnspecifiedMatching +OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch Orphanet:83471 semapv:UnspecifiedMatching OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C0152094 semapv:UnspecifiedMatching OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C1744558 semapv:UnspecifiedMatching OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching -OMIM:242700 t-cell immunodeficiency with thymic aplasia skos:exactMatch orphanet.ordo:83471 semapv:UnspecifiedMatching OMIM:243305 INVS skos:exactMatch UMLS:C1425144 semapv:UnspecifiedMatching OMIM:243305 INVS skos:exactMatch UMLS:C1865872 semapv:UnspecifiedMatching -OMIM:243305 INVS skos:exactMatch hgnc:INVS semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch hgnc.symbol:17870 semapv:UnspecifiedMatching +OMIM:243305 INVS skos:exactMatch hgnc.symbol:INVS semapv:UnspecifiedMatching OMIM:243305 INVS skos:exactMatch ncbigene:27130 semapv:UnspecifiedMatching +OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch Orphanet:2995 semapv:UnspecifiedMatching OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1853623 semapv:UnspecifiedMatching OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch UMLS:C1855722 semapv:UnspecifiedMatching -OMIM:243310 baraitser-winter syndrome 1 skos:exactMatch orphanet.ordo:2995 semapv:UnspecifiedMatching +OMIM:243910 arima syndrome skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching OMIM:243910 arima syndrome skos:exactMatch UMLS:C1855675 semapv:UnspecifiedMatching -OMIM:243910 arima syndrome skos:exactMatch orphanet.ordo:2318 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching +OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch Orphanet:98861 semapv:UnspecifiedMatching OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4317124 semapv:UnspecifiedMatching OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551720 semapv:UnspecifiedMatching OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch UMLS:C4551906 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch orphanet.ordo:244 semapv:UnspecifiedMatching -OMIM:244400 ciliary dyskinesia, primary, 1 skos:exactMatch orphanet.ordo:98861 semapv:UnspecifiedMatching +OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch Orphanet:832 semapv:UnspecifiedMatching OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch UMLS:C0342792 semapv:UnspecifiedMatching -OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch orphanet.ordo:832 semapv:UnspecifiedMatching OMIM:245450 d-lactic aciduria with gout skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching +OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 semapv:UnspecifiedMatching OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C1855548 semapv:UnspecifiedMatching OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching -OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive skos:exactMatch orphanet.ordo:220465 semapv:UnspecifiedMatching +OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch Orphanet:284139 semapv:UnspecifiedMatching OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching -OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects skos:exactMatch orphanet.ordo:284139 semapv:UnspecifiedMatching OMIM:246530 LTC4S skos:exactMatch UMLS:C1416932 semapv:UnspecifiedMatching -OMIM:246530 LTC4S skos:exactMatch hgnc:LTC4S semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:6719 semapv:UnspecifiedMatching +OMIM:246530 LTC4S skos:exactMatch hgnc.symbol:LTC4S semapv:UnspecifiedMatching OMIM:246530 LTC4S skos:exactMatch ncbigene:4056 semapv:UnspecifiedMatching -OMIM:246600 PNLIP skos:exactMatch hgnc:PNLIP semapv:UnspecifiedMatching +OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:9155 semapv:UnspecifiedMatching +OMIM:246600 PNLIP skos:exactMatch hgnc.symbol:PNLIP semapv:UnspecifiedMatching OMIM:246600 PNLIP skos:exactMatch ncbigene:5406 semapv:UnspecifiedMatching -OMIM:247980 LIPB skos:exactMatch hgnc:LIPB semapv:UnspecifiedMatching +OMIM:247980 LIPB skos:exactMatch hgnc.symbol:6618 semapv:UnspecifiedMatching +OMIM:247980 LIPB skos:exactMatch hgnc.symbol:LIPB semapv:UnspecifiedMatching OMIM:247980 LIPB skos:exactMatch ncbigene:3989 semapv:UnspecifiedMatching +OMIM:248200 stargardt disease 1 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C1855465 semapv:UnspecifiedMatching OMIM:248200 stargardt disease 1 skos:exactMatch UMLS:C4282180 semapv:UnspecifiedMatching -OMIM:248200 stargardt disease 1 skos:exactMatch orphanet.ordo:827 semapv:UnspecifiedMatching +OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch Orphanet:943 semapv:UnspecifiedMatching OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching -OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch orphanet.ordo:943 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309282 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:309288 semapv:UnspecifiedMatching +OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch Orphanet:61 semapv:UnspecifiedMatching OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch UMLS:C0024748 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch orphanet.ordo:309282 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch orphanet.ordo:309288 semapv:UnspecifiedMatching -OMIM:248500 mannosidosis, alpha b, lysosomal skos:exactMatch orphanet.ordo:61 semapv:UnspecifiedMatching -OMIM:248610 DBT skos:exactMatch hgnc:DBT semapv:UnspecifiedMatching +OMIM:248610 DBT skos:exactMatch hgnc.symbol:2698 semapv:UnspecifiedMatching +OMIM:248610 DBT skos:exactMatch hgnc.symbol:DBT semapv:UnspecifiedMatching OMIM:248610 DBT skos:exactMatch ncbigene:1629 semapv:UnspecifiedMatching -OMIM:248611 BCKDHB skos:exactMatch hgnc:BCKDHB semapv:UnspecifiedMatching +OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:987 semapv:UnspecifiedMatching +OMIM:248611 BCKDHB skos:exactMatch hgnc.symbol:BCKDHB semapv:UnspecifiedMatching OMIM:248611 BCKDHB skos:exactMatch ncbigene:594 semapv:UnspecifiedMatching +OMIM:248800 marinesco-sjogren syndrome skos:exactMatch Orphanet:559 semapv:UnspecifiedMatching OMIM:248800 marinesco-sjogren syndrome skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching -OMIM:248800 marinesco-sjogren syndrome skos:exactMatch orphanet.ordo:559 semapv:UnspecifiedMatching +OMIM:248900 mast syndrome skos:exactMatch Orphanet:101001 semapv:UnspecifiedMatching OMIM:248900 mast syndrome skos:exactMatch UMLS:C1855346 semapv:UnspecifiedMatching -OMIM:248900 mast syndrome skos:exactMatch orphanet.ordo:101001 semapv:UnspecifiedMatching +OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch Orphanet:2135 semapv:UnspecifiedMatching OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch UMLS:C3151493 semapv:UnspecifiedMatching -OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia skos:exactMatch orphanet.ordo:2135 semapv:UnspecifiedMatching +OMIM:249000 meckel syndrome, iia 1 skos:exactMatch Orphanet:564 semapv:UnspecifiedMatching OMIM:249000 meckel syndrome, iia 1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching -OMIM:249000 meckel syndrome, iia 1 skos:exactMatch orphanet.ordo:564 semapv:UnspecifiedMatching +OMIM:249100 familial mediterranean fever skos:exactMatch Orphanet:342 semapv:UnspecifiedMatching OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching OMIM:249100 familial mediterranean fever skos:exactMatch UMLS:C5399837 semapv:UnspecifiedMatching -OMIM:249100 familial mediterranean fever skos:exactMatch orphanet.ordo:342 semapv:UnspecifiedMatching +OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 semapv:UnspecifiedMatching OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch UMLS:C0342287 semapv:UnspecifiedMatching -OMIM:249270 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch orphanet.ordo:49827 semapv:UnspecifiedMatching +OMIM:249700 langer mesomelic dysplasia skos:exactMatch Orphanet:2632 semapv:UnspecifiedMatching OMIM:249700 langer mesomelic dysplasia skos:exactMatch UMLS:C0432230 semapv:UnspecifiedMatching -OMIM:249700 langer mesomelic dysplasia skos:exactMatch orphanet.ordo:2632 semapv:UnspecifiedMatching +OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch Orphanet:512 semapv:UnspecifiedMatching OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch UMLS:C0268262 semapv:UnspecifiedMatching -OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch orphanet.ordo:512 semapv:UnspecifiedMatching +OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch Orphanet:93317 semapv:UnspecifiedMatching OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch UMLS:C1855229 semapv:UnspecifiedMatching -OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia skos:exactMatch orphanet.ordo:93317 semapv:UnspecifiedMatching +OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch Orphanet:67046 semapv:UnspecifiedMatching OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching -OMIM:250950 3-methylglutaconic aciduria, iia 1 skos:exactMatch orphanet.ordo:67046 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:27 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:289916 semapv:UnspecifiedMatching +OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch Orphanet:79312 semapv:UnspecifiedMatching OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch UMLS:C1855114 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch orphanet.ordo:27 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch orphanet.ordo:289916 semapv:UnspecifiedMatching -OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency skos:exactMatch orphanet.ordo:79312 semapv:UnspecifiedMatching -OMIM:251170 MVK skos:exactMatch hgnc:MVK semapv:UnspecifiedMatching +OMIM:251170 MVK skos:exactMatch hgnc.symbol:7530 semapv:UnspecifiedMatching +OMIM:251170 MVK skos:exactMatch hgnc.symbol:MVK semapv:UnspecifiedMatching OMIM:251170 MVK skos:exactMatch ncbigene:4598 semapv:UnspecifiedMatching +OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching -OMIM:251200 microcephaly 1, primary, autosomal recessive skos:exactMatch orphanet.ordo:2512 semapv:UnspecifiedMatching +OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch Orphanet:1229 semapv:UnspecifiedMatching OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C3489725 semapv:UnspecifiedMatching OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch UMLS:C4552078 semapv:UnspecifiedMatching -OMIM:251290 pseudo-torch syndrome 1 skos:exactMatch orphanet.ordo:1229 semapv:UnspecifiedMatching +OMIM:251450 desbuquois dysplasia 1 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C0432242 semapv:UnspecifiedMatching OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching -OMIM:251450 desbuquois dysplasia 1 skos:exactMatch orphanet.ordo:1425 semapv:UnspecifiedMatching OMIM:251900 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy skos:exactMatch UMLS:C5193007 semapv:UnspecifiedMatching +OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch Orphanet:2597 semapv:UnspecifiedMatching OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch UMLS:C1855033 semapv:UnspecifiedMatching -OMIM:251950 mitochondrial myopathy with lactic acidosis skos:exactMatch orphanet.ordo:2597 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching +OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching -OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch orphanet.ordo:255241 semapv:UnspecifiedMatching -OMIM:252010 mitochondrial complex 1 deficiency, nuclear iia 1 skos:exactMatch orphanet.ordo:2609 semapv:UnspecifiedMatching +OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch Orphanet:3208 semapv:UnspecifiedMatching OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch UMLS:C1855008 semapv:UnspecifiedMatching -OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 skos:exactMatch orphanet.ordo:3208 semapv:UnspecifiedMatching +OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C1854978 semapv:UnspecifiedMatching OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching -OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch orphanet.ordo:495930 semapv:UnspecifiedMatching OMIM:252800 IDUA skos:exactMatch UMLS:C0026708 semapv:UnspecifiedMatching OMIM:252800 IDUA skos:exactMatch UMLS:C0086431 semapv:UnspecifiedMatching OMIM:252800 IDUA skos:exactMatch UMLS:C0086795 semapv:UnspecifiedMatching OMIM:252800 IDUA skos:exactMatch UMLS:C1442485 semapv:UnspecifiedMatching OMIM:252800 IDUA skos:exactMatch UMLS:C4016443 semapv:UnspecifiedMatching -OMIM:252800 IDUA skos:exactMatch hgnc:IDUA semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch hgnc.symbol:5391 semapv:UnspecifiedMatching +OMIM:252800 IDUA skos:exactMatch hgnc.symbol:IDUA semapv:UnspecifiedMatching OMIM:252800 IDUA skos:exactMatch ncbigene:3425 semapv:UnspecifiedMatching +OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch Orphanet:79269 semapv:UnspecifiedMatching OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch UMLS:C0086647 semapv:UnspecifiedMatching -OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch orphanet.ordo:581 semapv:UnspecifiedMatching -OMIM:252900 mucopolysaccharidosis, iia 3a skos:exactMatch orphanet.ordo:79269 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch Orphanet:79270 semapv:UnspecifiedMatching OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch UMLS:C0086648 semapv:UnspecifiedMatching -OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch orphanet.ordo:581 semapv:UnspecifiedMatching -OMIM:252920 mucopolysaccharidosis, iia 3b skos:exactMatch orphanet.ordo:79270 semapv:UnspecifiedMatching +OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch Orphanet:79271 semapv:UnspecifiedMatching OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch UMLS:C0086649 semapv:UnspecifiedMatching -OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch orphanet.ordo:581 semapv:UnspecifiedMatching -OMIM:252930 mucopolysaccharidosis, iia 3c skos:exactMatch orphanet.ordo:79271 semapv:UnspecifiedMatching +OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:581 semapv:UnspecifiedMatching +OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch Orphanet:79272 semapv:UnspecifiedMatching OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch UMLS:C0086650 semapv:UnspecifiedMatching -OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch orphanet.ordo:581 semapv:UnspecifiedMatching -OMIM:252940 mucopolysaccharidosis, iia 3d skos:exactMatch orphanet.ordo:79272 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:309297 semapv:UnspecifiedMatching +OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch UMLS:C0086651 semapv:UnspecifiedMatching -OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch orphanet.ordo:309297 semapv:UnspecifiedMatching -OMIM:253000 mucopolysaccharidosis, iia 4a skos:exactMatch orphanet.ordo:582 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:309310 semapv:UnspecifiedMatching +OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch Orphanet:582 semapv:UnspecifiedMatching OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch UMLS:C0086652 semapv:UnspecifiedMatching -OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch orphanet.ordo:309310 semapv:UnspecifiedMatching -OMIM:253010 mucopolysaccharidosis, iia 4b skos:exactMatch orphanet.ordo:582 semapv:UnspecifiedMatching +OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch Orphanet:583 semapv:UnspecifiedMatching OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching -OMIM:253200 mucopolysaccharidosis, iia 6 skos:exactMatch orphanet.ordo:583 semapv:UnspecifiedMatching +OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch Orphanet:584 semapv:UnspecifiedMatching OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch UMLS:C0085132 semapv:UnspecifiedMatching -OMIM:253220 mucopolysaccharidosis, iia 7 skos:exactMatch orphanet.ordo:584 semapv:UnspecifiedMatching +OMIM:253260 biotinidase deficiency skos:exactMatch Orphanet:79241 semapv:UnspecifiedMatching OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching OMIM:253260 biotinidase deficiency skos:exactMatch UMLS:C1854698 semapv:UnspecifiedMatching -OMIM:253260 biotinidase deficiency skos:exactMatch orphanet.ordo:79241 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching -OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch orphanet.ordo:588 semapv:UnspecifiedMatching -OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 skos:exactMatch orphanet.ordo:899 semapv:UnspecifiedMatching +OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch Orphanet:267 semapv:UnspecifiedMatching OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch UMLS:C1869123 semapv:UnspecifiedMatching -OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 skos:exactMatch orphanet.ordo:267 semapv:UnspecifiedMatching +OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch Orphanet:268 semapv:UnspecifiedMatching OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching -OMIM:253601 muscular dystrophy, limb-girdle, autosomal recessive 2 skos:exactMatch orphanet.ordo:268 semapv:UnspecifiedMatching +OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch Orphanet:1878 semapv:UnspecifiedMatching OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch UMLS:C0270968 semapv:UnspecifiedMatching -OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 skos:exactMatch orphanet.ordo:1878 semapv:UnspecifiedMatching +OMIM:254450 myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatching OMIM:254450 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching -OMIM:254450 myelofibrosis skos:exactMatch orphanet.ordo:824 semapv:UnspecifiedMatching +OMIM:254600 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching OMIM:254600 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching -OMIM:254600 myeloperoxidase deficiency skos:exactMatch orphanet.ordo:2587 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch orphanet.ordo:501 semapv:UnspecifiedMatching +OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching -OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch orphanet.ordo:308 semapv:UnspecifiedMatching +OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch UMLS:C1850709 semapv:UnspecifiedMatching -OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch orphanet.ordo:53698 semapv:UnspecifiedMatching +OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch Orphanet:169186 semapv:UnspecifiedMatching OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching -OMIM:255200 myopathy, centronuclear, 2 skos:exactMatch orphanet.ordo:169186 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching -OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch orphanet.ordo:598 semapv:UnspecifiedMatching -OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch orphanet.ordo:98905 semapv:UnspecifiedMatching +OMIM:255995 congenital myopathy 13 skos:exactMatch Orphanet:168572 semapv:UnspecifiedMatching OMIM:255995 congenital myopathy 13 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching -OMIM:255995 congenital myopathy 13 skos:exactMatch orphanet.ordo:168572 semapv:UnspecifiedMatching +OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch Orphanet:2613 semapv:UnspecifiedMatching OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching -OMIM:256020 focal segmental glomerulosclerosis 10 skos:exactMatch orphanet.ordo:2613 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch Orphanet:228360 semapv:UnspecifiedMatching OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching -OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch orphanet.ordo:168491 semapv:UnspecifiedMatching -OMIM:256731 ceroid lipofuscinosis, neuronal, 5 skos:exactMatch orphanet.ordo:228360 semapv:UnspecifiedMatching +OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch Orphanet:643 semapv:UnspecifiedMatching OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch UMLS:C5200933 semapv:UnspecifiedMatching -OMIM:256850 giant axonal neuropathy 1, autosomal recessive skos:exactMatch orphanet.ordo:643 semapv:UnspecifiedMatching OMIM:257150 neutrophil actin dysfunction skos:exactMatch UMLS:C1850380 semapv:UnspecifiedMatching +OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C0220756 semapv:UnspecifiedMatching OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching -OMIM:257220 niemann-pick disease, iia c1 skos:exactMatch orphanet.ordo:646 semapv:UnspecifiedMatching +OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch UMLS:C1850343 semapv:UnspecifiedMatching -OMIM:257300 mosaic variegated aneuploidy syndrome 1 skos:exactMatch orphanet.ordo:1052 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:2506 semapv:UnspecifiedMatching +OMIM:257920 3mc syndrome 1 skos:exactMatch Orphanet:293843 semapv:UnspecifiedMatching OMIM:257920 3mc syndrome 1 skos:exactMatch UMLS:C0796059 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch orphanet.ordo:2506 semapv:UnspecifiedMatching -OMIM:257920 3mc syndrome 1 skos:exactMatch orphanet.ordo:293843 semapv:UnspecifiedMatching +OMIM:257980 odontoonychodermal dysplasia skos:exactMatch Orphanet:2721 semapv:UnspecifiedMatching OMIM:257980 odontoonychodermal dysplasia skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching -OMIM:257980 odontoonychodermal dysplasia skos:exactMatch orphanet.ordo:2721 semapv:UnspecifiedMatching +OMIM:258040 oeis complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching +OMIM:258040 oeis complex skos:exactMatch Orphanet:93929 semapv:UnspecifiedMatching OMIM:258040 oeis complex skos:exactMatch UMLS:C1850321 semapv:UnspecifiedMatching -OMIM:258040 oeis complex skos:exactMatch orphanet.ordo:322 semapv:UnspecifiedMatching -OMIM:258040 oeis complex skos:exactMatch orphanet.ordo:93929 semapv:UnspecifiedMatching +OMIM:258150 spermatogenic failure 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching OMIM:258150 spermatogenic failure 1 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching -OMIM:258150 spermatogenic failure 1 skos:exactMatch orphanet.ordo:399805 semapv:UnspecifiedMatching +OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch Orphanet:254886 semapv:UnspecifiedMatching OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch UMLS:C4225153 semapv:UnspecifiedMatching -OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch orphanet.ordo:254886 semapv:UnspecifiedMatching +OMIM:258480 opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching OMIM:258480 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching -OMIM:258480 opsismodysplasia skos:exactMatch orphanet.ordo:2746 semapv:UnspecifiedMatching +OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching -OMIM:258501 3-methylglutaconic aciduria, iia 3 skos:exactMatch orphanet.ordo:67047 semapv:UnspecifiedMatching +OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch Orphanet:141007 semapv:UnspecifiedMatching OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch UMLS:C0796102 semapv:UnspecifiedMatching -OMIM:258865 orofaciodigital syndrome 9 skos:exactMatch orphanet.ordo:141007 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:1525 semapv:UnspecifiedMatching +OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch Orphanet:2796 semapv:UnspecifiedMatching OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C0029411 semapv:UnspecifiedMatching OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch orphanet.ordo:1525 semapv:UnspecifiedMatching -OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:exactMatch orphanet.ordo:2796 semapv:UnspecifiedMatching +OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch UMLS:C1850155 semapv:UnspecifiedMatching -OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy skos:exactMatch orphanet.ordo:371428 semapv:UnspecifiedMatching +OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch Orphanet:324964 semapv:UnspecifiedMatching OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch UMLS:C0410422 semapv:UnspecifiedMatching -OMIM:259680 chronic recurrent multifocal osteomyelitis 3 skos:exactMatch orphanet.ordo:324964 semapv:UnspecifiedMatching +OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch Orphanet:2785 semapv:UnspecifiedMatching OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch UMLS:C0345407 semapv:UnspecifiedMatching -OMIM:259730 osteopetrosis, autosomal recessive 3 skos:exactMatch orphanet.ordo:2785 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching +OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch Orphanet:93598 semapv:UnspecifiedMatching OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch UMLS:C0268164 semapv:UnspecifiedMatching -OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch orphanet.ordo:416 semapv:UnspecifiedMatching -OMIM:259900 hyperoxaluria, primary, iia 1 skos:exactMatch orphanet.ordo:93598 semapv:UnspecifiedMatching +OMIM:260350 pancreatic cancer skos:exactMatch Orphanet:1333 semapv:UnspecifiedMatching OMIM:260350 pancreatic cancer skos:exactMatch UMLS:C0235974 semapv:UnspecifiedMatching -OMIM:260350 pancreatic cancer skos:exactMatch orphanet.ordo:1333 semapv:UnspecifiedMatching +OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch Orphanet:811 semapv:UnspecifiedMatching OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C0272170 semapv:UnspecifiedMatching OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch UMLS:C4692625 semapv:UnspecifiedMatching -OMIM:260400 shwachman-diamond syndrome 1 skos:exactMatch orphanet.ordo:811 semapv:UnspecifiedMatching +OMIM:261000 intrinsic factor deficiency skos:exactMatch Orphanet:332 semapv:UnspecifiedMatching OMIM:261000 intrinsic factor deficiency skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching -OMIM:261000 intrinsic factor deficiency skos:exactMatch orphanet.ordo:332 semapv:UnspecifiedMatching +OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4016819 semapv:UnspecifiedMatching OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching -OMIM:261100 imerslund-grasbeck syndrome 1 skos:exactMatch orphanet.ordo:35858 semapv:UnspecifiedMatching +OMIM:261600 phenylketonuria skos:exactMatch Orphanet:2209 semapv:UnspecifiedMatching +OMIM:261600 phenylketonuria skos:exactMatch Orphanet:716 semapv:UnspecifiedMatching OMIM:261600 phenylketonuria skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching -OMIM:261600 phenylketonuria skos:exactMatch orphanet.ordo:2209 semapv:UnspecifiedMatching -OMIM:261600 phenylketonuria skos:exactMatch orphanet.ordo:716 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:90695 semapv:UnspecifiedMatching +OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch Orphanet:95494 semapv:UnspecifiedMatching OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0242343 semapv:UnspecifiedMatching OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching -OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch orphanet.ordo:90695 semapv:UnspecifiedMatching -OMIM:262600 pituitary hormone deficiency, combined, 2 skos:exactMatch orphanet.ordo:95494 semapv:UnspecifiedMatching +OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching -OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch orphanet.ordo:238557 semapv:UnspecifiedMatching +OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch UMLS:C0024507 semapv:UnspecifiedMatching -OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch orphanet.ordo:93269 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:1578 semapv:UnspecifiedMatching +OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch Orphanet:238583 semapv:UnspecifiedMatching OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch UMLS:C1849700 semapv:UnspecifiedMatching -OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch orphanet.ordo:1578 semapv:UnspecifiedMatching -OMIM:264070 hyperphenylalaninemia, bh4-deficient, d skos:exactMatch orphanet.ordo:238583 semapv:UnspecifiedMatching +OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch Orphanet:3455 semapv:UnspecifiedMatching OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch UMLS:C0406586 semapv:UnspecifiedMatching -OMIM:264090 wiedemann-rautenstrauch syndrome skos:exactMatch orphanet.ordo:3455 semapv:UnspecifiedMatching +OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 semapv:UnspecifiedMatching OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch UMLS:C0432206 semapv:UnspecifiedMatching -OMIM:264180 pseudodiastrophic dysplasia skos:exactMatch orphanet.ordo:85174 semapv:UnspecifiedMatching +OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch Orphanet:2971 semapv:UnspecifiedMatching OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching -OMIM:264470 peroxisomal acyl-coa oxidase deficiency skos:exactMatch orphanet.ordo:2971 semapv:UnspecifiedMatching +OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch Orphanet:2166 semapv:UnspecifiedMatching OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch UMLS:C1849649 semapv:UnspecifiedMatching -OMIM:264480 pseudotrisomy 13 syndrome skos:exactMatch orphanet.ordo:2166 semapv:UnspecifiedMatching +OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch UMLS:C0268689 semapv:UnspecifiedMatching -OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a skos:exactMatch orphanet.ordo:289157 semapv:UnspecifiedMatching -OMIM:264900 F11 skos:exactMatch hgnc:F11 semapv:UnspecifiedMatching +OMIM:264900 F11 skos:exactMatch hgnc.symbol:3529 semapv:UnspecifiedMatching +OMIM:264900 F11 skos:exactMatch hgnc.symbol:F11 semapv:UnspecifiedMatching OMIM:264900 F11 skos:exactMatch ncbigene:2160 semapv:UnspecifiedMatching +OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch Orphanet:2414 semapv:UnspecifiedMatching OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch UMLS:C1849554 semapv:UnspecifiedMatching -OMIM:265300 lymphangiectasia, pulmonary, congenital skos:exactMatch orphanet.ordo:2414 semapv:UnspecifiedMatching +OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 semapv:UnspecifiedMatching OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching -OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch orphanet.ordo:210122 semapv:UnspecifiedMatching +OMIM:265900 pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatching OMIM:265900 pyle disease skos:exactMatch UMLS:C0265294 semapv:UnspecifiedMatching -OMIM:265900 pyle disease skos:exactMatch orphanet.ordo:3005 semapv:UnspecifiedMatching +OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch orphanet.ordo:766 semapv:UnspecifiedMatching OMIM:266600 inflammatory bowel disease (crohn disease) 1 skos:exactMatch UMLS:C0010346 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C0403554 semapv:UnspecifiedMatching OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch UMLS:C4016429 semapv:UnspecifiedMatching -OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch orphanet.ordo:18 semapv:UnspecifiedMatching -OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:exactMatch orphanet.ordo:402041 semapv:UnspecifiedMatching +OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C0272199 semapv:UnspecifiedMatching OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C4551514 semapv:UnspecifiedMatching -OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch orphanet.ordo:540 semapv:UnspecifiedMatching +OMIM:267750 knobloch syndrome 1 skos:exactMatch Orphanet:1571 semapv:UnspecifiedMatching OMIM:267750 knobloch syndrome 1 skos:exactMatch UMLS:C1849409 semapv:UnspecifiedMatching OMIM:267750 knobloch syndrome 1 skos:exactMatch UMLS:C4551775 semapv:UnspecifiedMatching -OMIM:267750 knobloch syndrome 1 skos:exactMatch orphanet.ordo:1571 semapv:UnspecifiedMatching +OMIM:268000 retinitis pigmentosa skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:268000 retinitis pigmentosa skos:exactMatch UMLS:C0035334 semapv:UnspecifiedMatching -OMIM:268000 retinitis pigmentosa skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching +OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch Orphanet:3087 semapv:UnspecifiedMatching OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch UMLS:C1849399 semapv:UnspecifiedMatching -OMIM:268040 retinohepatoendocrinologic syndrome skos:exactMatch orphanet.ordo:3087 semapv:UnspecifiedMatching +OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch Orphanet:3084 semapv:UnspecifiedMatching OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch UMLS:C0796072 semapv:UnspecifiedMatching -OMIM:268050 mirhosseini-holmes-walton syndrome skos:exactMatch orphanet.ordo:3084 semapv:UnspecifiedMatching +OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch Orphanet:3103 semapv:UnspecifiedMatching OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch UMLS:C0392475 semapv:UnspecifiedMatching -OMIM:268300 roberts-sc phocomelia syndrome skos:exactMatch orphanet.ordo:3103 semapv:UnspecifiedMatching +OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch Orphanet:3102 semapv:UnspecifiedMatching OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch UMLS:C1849348 semapv:UnspecifiedMatching -OMIM:268305 robin sequence with cleft mandible and limb anomalies skos:exactMatch orphanet.ordo:3102 semapv:UnspecifiedMatching +OMIM:268700 saccharopinuria skos:exactMatch Orphanet:3124 semapv:UnspecifiedMatching OMIM:268700 saccharopinuria skos:exactMatch UMLS:C0268556 semapv:UnspecifiedMatching -OMIM:268700 saccharopinuria skos:exactMatch orphanet.ordo:3124 semapv:UnspecifiedMatching +OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch Orphanet:93268 semapv:UnspecifiedMatching OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch UMLS:C0432198 semapv:UnspecifiedMatching -OMIM:269860 short-rib thoracic dysplasia 12 skos:exactMatch orphanet.ordo:93268 semapv:UnspecifiedMatching +OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C0037221 semapv:UnspecifiedMatching OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch UMLS:C3495537 semapv:UnspecifiedMatching -OMIM:270100 heterotaxy, visceral, 5, autosomal skos:exactMatch orphanet.ordo:450 semapv:UnspecifiedMatching +OMIM:270150 sjogren syndrome skos:exactMatch Orphanet:289390 semapv:UnspecifiedMatching OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C0086981 semapv:UnspecifiedMatching OMIM:270150 sjogren syndrome skos:exactMatch UMLS:C1527336 semapv:UnspecifiedMatching -OMIM:270150 sjogren syndrome skos:exactMatch orphanet.ordo:289390 semapv:UnspecifiedMatching +OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch Orphanet:100998 semapv:UnspecifiedMatching OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching -OMIM:270685 spastic paraplegia 17, autosomal dominant skos:exactMatch orphanet.ordo:100998 semapv:UnspecifiedMatching +OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch Orphanet:100986 semapv:UnspecifiedMatching OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching -OMIM:270800 spastic paraplegia 5a, autosomal recessive skos:exactMatch orphanet.ordo:100986 semapv:UnspecifiedMatching +OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch Orphanet:93357 semapv:UnspecifiedMatching OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch UMLS:C1300260 semapv:UnspecifiedMatching -OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia skos:exactMatch orphanet.ordo:93357 semapv:UnspecifiedMatching +OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch Orphanet:93359 semapv:UnspecifiedMatching OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch UMLS:C0432243 semapv:UnspecifiedMatching -OMIM:271640 spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures skos:exactMatch orphanet.ordo:93359 semapv:UnspecifiedMatching +OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch Orphanet:93358 semapv:UnspecifiedMatching OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch UMLS:C1849011 semapv:UnspecifiedMatching -OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia skos:exactMatch orphanet.ordo:93358 semapv:UnspecifiedMatching +OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 semapv:UnspecifiedMatching OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching -OMIM:271980 succinic semialdehyde dehydrogenase deficiency skos:exactMatch orphanet.ordo:22 semapv:UnspecifiedMatching +OMIM:272200 multiple sulfatase deficiency skos:exactMatch Orphanet:585 semapv:UnspecifiedMatching OMIM:272200 multiple sulfatase deficiency skos:exactMatch UMLS:C0268263 semapv:UnspecifiedMatching -OMIM:272200 multiple sulfatase deficiency skos:exactMatch orphanet.ordo:585 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:833 semapv:UnspecifiedMatching +OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching -OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch orphanet.ordo:833 semapv:UnspecifiedMatching -OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch orphanet.ordo:99731 semapv:UnspecifiedMatching +OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1832409 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1848947 semapv:UnspecifiedMatching -OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch orphanet.ordo:157820 semapv:UnspecifiedMatching +OMIM:272950 teebi-shaltout syndrome skos:exactMatch Orphanet:3291 semapv:UnspecifiedMatching OMIM:272950 teebi-shaltout syndrome skos:exactMatch UMLS:C1848912 semapv:UnspecifiedMatching -OMIM:272950 teebi-shaltout syndrome skos:exactMatch orphanet.ordo:3291 semapv:UnspecifiedMatching +OMIM:273250 46,xy sex reversal 11 skos:exactMatch Orphanet:983 semapv:UnspecifiedMatching OMIM:273250 46,xy sex reversal 11 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching -OMIM:273250 46,xy sex reversal 11 skos:exactMatch orphanet.ordo:983 semapv:UnspecifiedMatching +OMIM:273900 thrombocytopenia 3 skos:exactMatch Orphanet:168629 semapv:UnspecifiedMatching +OMIM:273900 thrombocytopenia 3 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching OMIM:273900 thrombocytopenia 3 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching -OMIM:273900 thrombocytopenia 3 skos:exactMatch orphanet.ordo:168629 semapv:UnspecifiedMatching -OMIM:273900 thrombocytopenia 3 skos:exactMatch orphanet.ordo:268322 semapv:UnspecifiedMatching +OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 semapv:UnspecifiedMatching OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch UMLS:C0175703 semapv:UnspecifiedMatching -OMIM:274000 thrombocytopenia-absent radius syndrome skos:exactMatch orphanet.ordo:3320 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:54057 semapv:UnspecifiedMatching +OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch Orphanet:93583 semapv:UnspecifiedMatching OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch UMLS:C1956258 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch orphanet.ordo:54057 semapv:UnspecifiedMatching -OMIM:274150 thrombotic thrombocytopenic purpura, hereditary skos:exactMatch orphanet.ordo:93583 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch UMLS:C1420620 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch UMLS:C4016444 semapv:UnspecifiedMatching -OMIM:274180 TBXAS1 skos:exactMatch hgnc:TBXAS1 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:11609 semapv:UnspecifiedMatching +OMIM:274180 TBXAS1 skos:exactMatch hgnc.symbol:TBXAS1 semapv:UnspecifiedMatching OMIM:274180 TBXAS1 skos:exactMatch ncbigene:6916 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494547 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:494550 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500464 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500478 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:500481 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502363 semapv:UnspecifiedMatching +OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch Orphanet:502366 semapv:UnspecifiedMatching OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch UMLS:C1168401 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:494547 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:494550 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:500464 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:500478 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:500481 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:502363 semapv:UnspecifiedMatching -OMIM:275355 squamous cell carcinoma, head and neck skos:exactMatch orphanet.ordo:502366 semapv:UnspecifiedMatching -OMIM:275360 TREH skos:exactMatch hgnc:TREH semapv:UnspecifiedMatching +OMIM:275360 TREH skos:exactMatch hgnc.symbol:12266 semapv:UnspecifiedMatching +OMIM:275360 TREH skos:exactMatch hgnc.symbol:TREH semapv:UnspecifiedMatching OMIM:275360 TREH skos:exactMatch ncbigene:11181 semapv:UnspecifiedMatching +OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch Orphanet:3363 semapv:UnspecifiedMatching OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch UMLS:C1848745 semapv:UnspecifiedMatching -OMIM:275400 oliver-mcfarlane syndrome skos:exactMatch orphanet.ordo:3363 semapv:UnspecifiedMatching +OMIM:275630 chanarin-dorfman syndrome skos:exactMatch Orphanet:98907 semapv:UnspecifiedMatching OMIM:275630 chanarin-dorfman syndrome skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching -OMIM:275630 chanarin-dorfman syndrome skos:exactMatch orphanet.ordo:98907 semapv:UnspecifiedMatching -OMIM:276000 PRSS1 skos:exactMatch hgnc:PRSS1 semapv:UnspecifiedMatching +OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:9475 semapv:UnspecifiedMatching +OMIM:276000 PRSS1 skos:exactMatch hgnc.symbol:PRSS1 semapv:UnspecifiedMatching OMIM:276000 PRSS1 skos:exactMatch ncbigene:5644 semapv:UnspecifiedMatching +OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C0265325 semapv:UnspecifiedMatching OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch UMLS:C5399763 semapv:UnspecifiedMatching -OMIM:276300 mismatch repair cancer syndrome 1 skos:exactMatch orphanet.ordo:252202 semapv:UnspecifiedMatching +OMIM:276600 tyrosinemia, iia 2 skos:exactMatch Orphanet:28378 semapv:UnspecifiedMatching OMIM:276600 tyrosinemia, iia 2 skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching -OMIM:276600 tyrosinemia, iia 2 skos:exactMatch orphanet.ordo:28378 semapv:UnspecifiedMatching +OMIM:276700 tyrosinemia, iia 1 skos:exactMatch Orphanet:882 semapv:UnspecifiedMatching OMIM:276700 tyrosinemia, iia 1 skos:exactMatch UMLS:C0268490 semapv:UnspecifiedMatching -OMIM:276700 tyrosinemia, iia 1 skos:exactMatch orphanet.ordo:882 semapv:UnspecifiedMatching +OMIM:276710 tyrosinemia, iia 3 skos:exactMatch Orphanet:69723 semapv:UnspecifiedMatching OMIM:276710 tyrosinemia, iia 3 skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching -OMIM:276710 tyrosinemia, iia 3 skos:exactMatch orphanet.ordo:69723 semapv:UnspecifiedMatching +OMIM:276901 usher syndrome, iia 2a skos:exactMatch Orphanet:231178 semapv:UnspecifiedMatching +OMIM:276901 usher syndrome, iia 2a skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching OMIM:276901 usher syndrome, iia 2a skos:exactMatch UMLS:C1848634 semapv:UnspecifiedMatching -OMIM:276901 usher syndrome, iia 2a skos:exactMatch orphanet.ordo:231178 semapv:UnspecifiedMatching -OMIM:276901 usher syndrome, iia 2a skos:exactMatch orphanet.ordo:886 semapv:UnspecifiedMatching -OMIM:276903 MYO7A skos:exactMatch hgnc:MYO7A semapv:UnspecifiedMatching +OMIM:276903 MYO7A skos:exactMatch hgnc.symbol:7606 semapv:UnspecifiedMatching +OMIM:276903 MYO7A skos:exactMatch hgnc.symbol:MYO7A semapv:UnspecifiedMatching OMIM:276903 MYO7A skos:exactMatch ncbigene:4647 semapv:UnspecifiedMatching +OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:231169 semapv:UnspecifiedMatching +OMIM:276904 usher syndrome, iia 1c skos:exactMatch Orphanet:886 semapv:UnspecifiedMatching OMIM:276904 usher syndrome, iia 1c skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching -OMIM:276904 usher syndrome, iia 1c skos:exactMatch orphanet.ordo:231169 semapv:UnspecifiedMatching -OMIM:276904 usher syndrome, iia 1c skos:exactMatch orphanet.ordo:886 semapv:UnspecifiedMatching OMIM:277100 valinemia skos:exactMatch UMLS:C0268573 semapv:UnspecifiedMatching +OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch Orphanet:48 semapv:UnspecifiedMatching OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C0403814 semapv:UnspecifiedMatching OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch UMLS:C5393224 semapv:UnspecifiedMatching -OMIM:277180 vas deferens, congenital bilateral aplasia of skos:exactMatch orphanet.ordo:48 semapv:UnspecifiedMatching +OMIM:277590 weaver syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching OMIM:277590 weaver syndrome skos:exactMatch UMLS:C0265210 semapv:UnspecifiedMatching -OMIM:277590 weaver syndrome skos:exactMatch orphanet.ordo:3447 semapv:UnspecifiedMatching +OMIM:277900 wilson disease skos:exactMatch Orphanet:905 semapv:UnspecifiedMatching OMIM:277900 wilson disease skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching -OMIM:277900 wilson disease skos:exactMatch orphanet.ordo:905 semapv:UnspecifiedMatching +OMIM:277950 winchester syndrome skos:exactMatch Orphanet:371428 semapv:UnspecifiedMatching OMIM:277950 winchester syndrome skos:exactMatch UMLS:C0432289 semapv:UnspecifiedMatching -OMIM:277950 winchester syndrome skos:exactMatch orphanet.ordo:371428 semapv:UnspecifiedMatching +OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching -OMIM:278720 xeroderma pigmentosum, complementation group c skos:exactMatch orphanet.ordo:910 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:1466 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:191 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:220295 semapv:UnspecifiedMatching +OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch Orphanet:910 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C0268141 semapv:UnspecifiedMatching OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch UMLS:C1968561 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch orphanet.ordo:1466 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch orphanet.ordo:191 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch orphanet.ordo:220295 semapv:UnspecifiedMatching -OMIM:278780 xeroderma pigmentosum, complementation group g skos:exactMatch orphanet.ordo:910 semapv:UnspecifiedMatching -OMIM:300002 ARSD skos:exactMatch hgnc:ARSD semapv:UnspecifiedMatching +OMIM:300002 ARSD skos:exactMatch hgnc.symbol:717 semapv:UnspecifiedMatching +OMIM:300002 ARSD skos:exactMatch hgnc.symbol:ARSD semapv:UnspecifiedMatching OMIM:300002 ARSD skos:exactMatch ncbigene:414 semapv:UnspecifiedMatching -OMIM:300003 ARSF skos:exactMatch hgnc:ARSF semapv:UnspecifiedMatching +OMIM:300003 ARSF skos:exactMatch hgnc.symbol:721 semapv:UnspecifiedMatching +OMIM:300003 ARSF skos:exactMatch hgnc.symbol:ARSF semapv:UnspecifiedMatching OMIM:300003 ARSF skos:exactMatch ncbigene:416 semapv:UnspecifiedMatching +OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch Orphanet:2508 semapv:UnspecifiedMatching OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching -OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia skos:exactMatch orphanet.ordo:2508 semapv:UnspecifiedMatching -OMIM:300005 MECP2 skos:exactMatch hgnc:MECP2 semapv:UnspecifiedMatching +OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:6990 semapv:UnspecifiedMatching +OMIM:300005 MECP2 skos:exactMatch hgnc.symbol:MECP2 semapv:UnspecifiedMatching OMIM:300005 MECP2 skos:exactMatch ncbigene:4204 semapv:UnspecifiedMatching OMIM:300006 CETN2 skos:exactMatch UMLS:C1413351 semapv:UnspecifiedMatching -OMIM:300006 CETN2 skos:exactMatch hgnc:CETN2 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:1867 semapv:UnspecifiedMatching +OMIM:300006 CETN2 skos:exactMatch hgnc.symbol:CETN2 semapv:UnspecifiedMatching OMIM:300006 CETN2 skos:exactMatch ncbigene:1069 semapv:UnspecifiedMatching OMIM:300007 IL9R skos:exactMatch UMLS:C1416413 semapv:UnspecifiedMatching -OMIM:300007 IL9R skos:exactMatch hgnc:IL9R semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch hgnc.symbol:6030 semapv:UnspecifiedMatching +OMIM:300007 IL9R skos:exactMatch hgnc.symbol:IL9R semapv:UnspecifiedMatching OMIM:300007 IL9R skos:exactMatch ncbigene:3581 semapv:UnspecifiedMatching -OMIM:300008 CLCN5 skos:exactMatch hgnc:CLCN5 semapv:UnspecifiedMatching +OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:2023 semapv:UnspecifiedMatching +OMIM:300008 CLCN5 skos:exactMatch hgnc.symbol:CLCN5 semapv:UnspecifiedMatching OMIM:300008 CLCN5 skos:exactMatch ncbigene:1184 semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch UMLS:C0268353 semapv:UnspecifiedMatching @@ -7247,20 +9580,26 @@ OMIM:300011 ATP7A skos:exactMatch UMLS:C1412688 semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch UMLS:C1845359 semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch UMLS:C4016446 semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch UMLS:C4016447 semapv:UnspecifiedMatching -OMIM:300011 ATP7A skos:exactMatch hgnc:ATP7A semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch hgnc.symbol:869 semapv:UnspecifiedMatching +OMIM:300011 ATP7A skos:exactMatch hgnc.symbol:ATP7A semapv:UnspecifiedMatching OMIM:300011 ATP7A skos:exactMatch ncbigene:538 semapv:UnspecifiedMatching -OMIM:300012 SMARCA1 skos:exactMatch hgnc:SMARCA1 semapv:UnspecifiedMatching +OMIM:300012 SMARCA1 skos:exactMatch hgnc.symbol:11097 semapv:UnspecifiedMatching +OMIM:300012 SMARCA1 skos:exactMatch hgnc.symbol:SMARCA1 semapv:UnspecifiedMatching OMIM:300012 SMARCA1 skos:exactMatch ncbigene:6594 semapv:UnspecifiedMatching OMIM:300013 NAA10 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching OMIM:300013 NAA10 skos:exactMatch UMLS:C1538918 semapv:UnspecifiedMatching OMIM:300013 NAA10 skos:exactMatch UMLS:C3275447 semapv:UnspecifiedMatching -OMIM:300013 NAA10 skos:exactMatch hgnc:NAA10 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch hgnc.symbol:18704 semapv:UnspecifiedMatching +OMIM:300013 NAA10 skos:exactMatch hgnc.symbol:NAA10 semapv:UnspecifiedMatching OMIM:300013 NAA10 skos:exactMatch ncbigene:8260 semapv:UnspecifiedMatching -OMIM:300014 ATP2B3 skos:exactMatch hgnc:ATP2B3 semapv:UnspecifiedMatching +OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:816 semapv:UnspecifiedMatching +OMIM:300014 ATP2B3 skos:exactMatch hgnc.symbol:ATP2B3 semapv:UnspecifiedMatching OMIM:300014 ATP2B3 skos:exactMatch ncbigene:492 semapv:UnspecifiedMatching -OMIM:300015 ASMT skos:exactMatch hgnc:ASMT semapv:UnspecifiedMatching +OMIM:300015 ASMT skos:exactMatch hgnc.symbol:750 semapv:UnspecifiedMatching +OMIM:300015 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching OMIM:300015 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching -OMIM:300016 MAGEA1 skos:exactMatch hgnc:MAGEA1 semapv:UnspecifiedMatching +OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:6796 semapv:UnspecifiedMatching +OMIM:300016 MAGEA1 skos:exactMatch hgnc.symbol:MAGEA1 semapv:UnspecifiedMatching OMIM:300016 MAGEA1 skos:exactMatch ncbigene:4100 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C0025237 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C0262436 semapv:UnspecifiedMatching @@ -7277,234 +9616,330 @@ OMIM:300017 FLNA skos:exactMatch UMLS:C4016451 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C4225601 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C4225602 semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch UMLS:C4281559 semapv:UnspecifiedMatching -OMIM:300017 FLNA skos:exactMatch hgnc:FLNA semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch hgnc.symbol:3754 semapv:UnspecifiedMatching +OMIM:300017 FLNA skos:exactMatch hgnc.symbol:FLNA semapv:UnspecifiedMatching OMIM:300017 FLNA skos:exactMatch ncbigene:2316 semapv:UnspecifiedMatching OMIM:300019 HCFC1 skos:exactMatch UMLS:C0796208 semapv:UnspecifiedMatching OMIM:300019 HCFC1 skos:exactMatch UMLS:C1415493 semapv:UnspecifiedMatching -OMIM:300019 HCFC1 skos:exactMatch hgnc:HCFC1 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:4839 semapv:UnspecifiedMatching +OMIM:300019 HCFC1 skos:exactMatch hgnc.symbol:HCFC1 semapv:UnspecifiedMatching OMIM:300019 HCFC1 skos:exactMatch ncbigene:3054 semapv:UnspecifiedMatching -OMIM:300022 PLXNA3 skos:exactMatch hgnc:PLXNA3 semapv:UnspecifiedMatching +OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:9101 semapv:UnspecifiedMatching +OMIM:300022 PLXNA3 skos:exactMatch hgnc.symbol:PLXNA3 semapv:UnspecifiedMatching OMIM:300022 PLXNA3 skos:exactMatch ncbigene:55558 semapv:UnspecifiedMatching -OMIM:300023 ARHGAP4 skos:exactMatch hgnc:ARHGAP4 semapv:UnspecifiedMatching +OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:674 semapv:UnspecifiedMatching +OMIM:300023 ARHGAP4 skos:exactMatch hgnc.symbol:ARHGAP4 semapv:UnspecifiedMatching OMIM:300023 ARHGAP4 skos:exactMatch ncbigene:393 semapv:UnspecifiedMatching -OMIM:300024 ZNF157 skos:exactMatch hgnc:ZNF157 semapv:UnspecifiedMatching +OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:12942 semapv:UnspecifiedMatching +OMIM:300024 ZNF157 skos:exactMatch hgnc.symbol:ZNF157 semapv:UnspecifiedMatching OMIM:300024 ZNF157 skos:exactMatch ncbigene:7712 semapv:UnspecifiedMatching -OMIM:300025 CDX4 skos:exactMatch hgnc:CDX4 semapv:UnspecifiedMatching +OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:1808 semapv:UnspecifiedMatching +OMIM:300025 CDX4 skos:exactMatch hgnc.symbol:CDX4 semapv:UnspecifiedMatching OMIM:300025 CDX4 skos:exactMatch ncbigene:1046 semapv:UnspecifiedMatching -OMIM:300026 NAP1L2 skos:exactMatch hgnc:NAP1L2 semapv:UnspecifiedMatching +OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:7638 semapv:UnspecifiedMatching +OMIM:300026 NAP1L2 skos:exactMatch hgnc.symbol:NAP1L2 semapv:UnspecifiedMatching OMIM:300026 NAP1L2 skos:exactMatch ncbigene:4674 semapv:UnspecifiedMatching -OMIM:300027 RBM3 skos:exactMatch hgnc:RBM3 semapv:UnspecifiedMatching +OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:9900 semapv:UnspecifiedMatching +OMIM:300027 RBM3 skos:exactMatch hgnc.symbol:RBM3 semapv:UnspecifiedMatching OMIM:300027 RBM3 skos:exactMatch ncbigene:5935 semapv:UnspecifiedMatching -OMIM:300028 ZRSR2 skos:exactMatch hgnc:ZRSR2 semapv:UnspecifiedMatching +OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:23019 semapv:UnspecifiedMatching +OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:ZRSR2 semapv:UnspecifiedMatching OMIM:300028 ZRSR2 skos:exactMatch ncbigene:8233 semapv:UnspecifiedMatching -OMIM:300031 FAM11A skos:exactMatch hgnc:TMEM185A semapv:UnspecifiedMatching +OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:17125 semapv:UnspecifiedMatching +OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:TMEM185A semapv:UnspecifiedMatching OMIM:300031 FAM11A skos:exactMatch ncbigene:84548 semapv:UnspecifiedMatching -OMIM:300032 ATRX skos:exactMatch hgnc:ATRX semapv:UnspecifiedMatching +OMIM:300032 ATRX skos:exactMatch hgnc.symbol:886 semapv:UnspecifiedMatching +OMIM:300032 ATRX skos:exactMatch hgnc.symbol:ATRX semapv:UnspecifiedMatching OMIM:300032 ATRX skos:exactMatch ncbigene:546 semapv:UnspecifiedMatching -OMIM:300033 FOXO4 skos:exactMatch hgnc:FOXO4 semapv:UnspecifiedMatching +OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:7139 semapv:UnspecifiedMatching +OMIM:300033 FOXO4 skos:exactMatch hgnc.symbol:FOXO4 semapv:UnspecifiedMatching OMIM:300033 FOXO4 skos:exactMatch ncbigene:4303 semapv:UnspecifiedMatching -OMIM:300034 AGTR2 skos:exactMatch hgnc:AGTR2 semapv:UnspecifiedMatching +OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:338 semapv:UnspecifiedMatching +OMIM:300034 AGTR2 skos:exactMatch hgnc.symbol:AGTR2 semapv:UnspecifiedMatching OMIM:300034 AGTR2 skos:exactMatch ncbigene:186 semapv:UnspecifiedMatching -OMIM:300035 EFNB1 skos:exactMatch hgnc:EFNB1 semapv:UnspecifiedMatching +OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:3226 semapv:UnspecifiedMatching +OMIM:300035 EFNB1 skos:exactMatch hgnc.symbol:EFNB1 semapv:UnspecifiedMatching OMIM:300035 EFNB1 skos:exactMatch ncbigene:1947 semapv:UnspecifiedMatching OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1420219 semapv:UnspecifiedMatching OMIM:300036 SLC6A8 skos:exactMatch UMLS:C1845862 semapv:UnspecifiedMatching -OMIM:300036 SLC6A8 skos:exactMatch hgnc:SLC6A8 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:11055 semapv:UnspecifiedMatching +OMIM:300036 SLC6A8 skos:exactMatch hgnc.symbol:SLC6A8 semapv:UnspecifiedMatching OMIM:300036 SLC6A8 skos:exactMatch ncbigene:6535 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch UMLS:C1415195 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch UMLS:C4016454 semapv:UnspecifiedMatching -OMIM:300037 GPC3 skos:exactMatch hgnc:GPC3 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:4451 semapv:UnspecifiedMatching +OMIM:300037 GPC3 skos:exactMatch hgnc.symbol:GPC3 semapv:UnspecifiedMatching OMIM:300037 GPC3 skos:exactMatch ncbigene:2719 semapv:UnspecifiedMatching -OMIM:300038 P2RY4 skos:exactMatch hgnc:P2RY4 semapv:UnspecifiedMatching +OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:8542 semapv:UnspecifiedMatching +OMIM:300038 P2RY4 skos:exactMatch hgnc.symbol:P2RY4 semapv:UnspecifiedMatching OMIM:300038 P2RY4 skos:exactMatch ncbigene:5030 semapv:UnspecifiedMatching -OMIM:300039 POU3F4 skos:exactMatch hgnc:POU3F4 semapv:UnspecifiedMatching +OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:9217 semapv:UnspecifiedMatching +OMIM:300039 POU3F4 skos:exactMatch hgnc.symbol:POU3F4 semapv:UnspecifiedMatching OMIM:300039 POU3F4 skos:exactMatch ncbigene:5456 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C1822777 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C5394560 semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch UMLS:C5394561 semapv:UnspecifiedMatching -OMIM:300040 SMC1A skos:exactMatch hgnc:SMC1A semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:11111 semapv:UnspecifiedMatching +OMIM:300040 SMC1A skos:exactMatch hgnc.symbol:SMC1A semapv:UnspecifiedMatching OMIM:300040 SMC1A skos:exactMatch ncbigene:8243 semapv:UnspecifiedMatching -OMIM:300041 GUCY2F skos:exactMatch hgnc:GUCY2F semapv:UnspecifiedMatching +OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:4691 semapv:UnspecifiedMatching +OMIM:300041 GUCY2F skos:exactMatch hgnc.symbol:GUCY2F semapv:UnspecifiedMatching OMIM:300041 GUCY2F skos:exactMatch ncbigene:2986 semapv:UnspecifiedMatching -OMIM:300044 TKTL1 skos:exactMatch hgnc:TKTL1 semapv:UnspecifiedMatching +OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:11835 semapv:UnspecifiedMatching +OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:TKTL1 semapv:UnspecifiedMatching OMIM:300044 TKTL1 skos:exactMatch ncbigene:8277 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching +OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1845235 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C1848213 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch UMLS:C4551969 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch orphanet.ordo:2149 semapv:UnspecifiedMatching -OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch orphanet.ordo:98892 semapv:UnspecifiedMatching -OMIM:300050 USP11 skos:exactMatch hgnc:USP11 semapv:UnspecifiedMatching +OMIM:300050 USP11 skos:exactMatch hgnc.symbol:12609 semapv:UnspecifiedMatching +OMIM:300050 USP11 skos:exactMatch hgnc.symbol:USP11 semapv:UnspecifiedMatching OMIM:300050 USP11 skos:exactMatch ncbigene:8237 semapv:UnspecifiedMatching -OMIM:300051 GPM6B skos:exactMatch hgnc:GPM6B semapv:UnspecifiedMatching +OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:4461 semapv:UnspecifiedMatching +OMIM:300051 GPM6B skos:exactMatch hgnc.symbol:GPM6B semapv:UnspecifiedMatching OMIM:300051 GPM6B skos:exactMatch ncbigene:2824 semapv:UnspecifiedMatching -OMIM:300052 DRP2 skos:exactMatch hgnc:DRP2 semapv:UnspecifiedMatching +OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:3032 semapv:UnspecifiedMatching +OMIM:300052 DRP2 skos:exactMatch hgnc.symbol:DRP2 semapv:UnspecifiedMatching OMIM:300052 DRP2 skos:exactMatch ncbigene:1821 semapv:UnspecifiedMatching -OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc:VAMP7 semapv:UnspecifiedMatching +OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:11486 semapv:UnspecifiedMatching +OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:VAMP7 semapv:UnspecifiedMatching OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch ncbigene:6845 semapv:UnspecifiedMatching -OMIM:300056 HCCS skos:exactMatch hgnc:HCCS semapv:UnspecifiedMatching +OMIM:300056 HCCS skos:exactMatch hgnc.symbol:4837 semapv:UnspecifiedMatching +OMIM:300056 HCCS skos:exactMatch hgnc.symbol:HCCS semapv:UnspecifiedMatching OMIM:300056 HCCS skos:exactMatch ncbigene:3052 semapv:UnspecifiedMatching -OMIM:300059 TMEM187 skos:exactMatch hgnc:TMEM187 semapv:UnspecifiedMatching +OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:13705 semapv:UnspecifiedMatching +OMIM:300059 TMEM187 skos:exactMatch hgnc.symbol:TMEM187 semapv:UnspecifiedMatching OMIM:300059 TMEM187 skos:exactMatch ncbigene:8269 semapv:UnspecifiedMatching -OMIM:300060 LAGE3 skos:exactMatch hgnc:LAGE3 semapv:UnspecifiedMatching +OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:26058 semapv:UnspecifiedMatching +OMIM:300060 LAGE3 skos:exactMatch hgnc.symbol:LAGE3 semapv:UnspecifiedMatching OMIM:300060 LAGE3 skos:exactMatch ncbigene:8270 semapv:UnspecifiedMatching -OMIM:300061 ZMYM3 skos:exactMatch hgnc:ZMYM3 semapv:UnspecifiedMatching +OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:13054 semapv:UnspecifiedMatching +OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:ZMYM3 semapv:UnspecifiedMatching OMIM:300061 ZMYM3 skos:exactMatch ncbigene:9203 semapv:UnspecifiedMatching -OMIM:300065 CENPI skos:exactMatch hgnc:CENPI semapv:UnspecifiedMatching +OMIM:300065 CENPI skos:exactMatch hgnc.symbol:3968 semapv:UnspecifiedMatching +OMIM:300065 CENPI skos:exactMatch hgnc.symbol:CENPI semapv:UnspecifiedMatching OMIM:300065 CENPI skos:exactMatch ncbigene:2491 semapv:UnspecifiedMatching -OMIM:300070 FGF13 skos:exactMatch hgnc:FGF13 semapv:UnspecifiedMatching +OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:3670 semapv:UnspecifiedMatching +OMIM:300070 FGF13 skos:exactMatch hgnc.symbol:FGF13 semapv:UnspecifiedMatching OMIM:300070 FGF13 skos:exactMatch ncbigene:2258 semapv:UnspecifiedMatching -OMIM:300072 USP9X skos:exactMatch hgnc:USP9X semapv:UnspecifiedMatching +OMIM:300072 USP9X skos:exactMatch hgnc.symbol:12632 semapv:UnspecifiedMatching +OMIM:300072 USP9X skos:exactMatch hgnc.symbol:USP9X semapv:UnspecifiedMatching OMIM:300072 USP9X skos:exactMatch ncbigene:8239 semapv:UnspecifiedMatching -OMIM:300074 XCE skos:exactMatch hgnc:XCE semapv:UnspecifiedMatching +OMIM:300074 XCE skos:exactMatch hgnc.symbol:12804 semapv:UnspecifiedMatching +OMIM:300074 XCE skos:exactMatch hgnc.symbol:XCE semapv:UnspecifiedMatching OMIM:300074 XCE skos:exactMatch ncbigene:7497 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0265252 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C0796225 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C1419744 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch UMLS:C4016455 semapv:UnspecifiedMatching -OMIM:300075 RPS6KA3 skos:exactMatch hgnc:RPS6KA3 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:10432 semapv:UnspecifiedMatching +OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:RPS6KA3 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch ncbigene:6197 semapv:UnspecifiedMatching -OMIM:300078 NDUFA1 skos:exactMatch hgnc:NDUFA1 semapv:UnspecifiedMatching +OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:7683 semapv:UnspecifiedMatching +OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:NDUFA1 semapv:UnspecifiedMatching OMIM:300078 NDUFA1 skos:exactMatch ncbigene:4694 semapv:UnspecifiedMatching -OMIM:300079 XIAP skos:exactMatch hgnc:XIAP semapv:UnspecifiedMatching +OMIM:300079 XIAP skos:exactMatch hgnc.symbol:592 semapv:UnspecifiedMatching +OMIM:300079 XIAP skos:exactMatch hgnc.symbol:XIAP semapv:UnspecifiedMatching OMIM:300079 XIAP skos:exactMatch ncbigene:331 semapv:UnspecifiedMatching OMIM:300080 RBM10 skos:exactMatch UMLS:C1419296 semapv:UnspecifiedMatching OMIM:300080 RBM10 skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching -OMIM:300080 RBM10 skos:exactMatch hgnc:RBM10 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:9896 semapv:UnspecifiedMatching +OMIM:300080 RBM10 skos:exactMatch hgnc.symbol:RBM10 semapv:UnspecifiedMatching OMIM:300080 RBM10 skos:exactMatch ncbigene:8241 semapv:UnspecifiedMatching -OMIM:300081 DNASE1L1 skos:exactMatch hgnc:DNASE1L1 semapv:UnspecifiedMatching +OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:2957 semapv:UnspecifiedMatching +OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:DNASE1L1 semapv:UnspecifiedMatching OMIM:300081 DNASE1L1 skos:exactMatch ncbigene:1774 semapv:UnspecifiedMatching -OMIM:300083 PRKX skos:exactMatch hgnc:PRKX semapv:UnspecifiedMatching +OMIM:300083 PRKX skos:exactMatch hgnc.symbol:9441 semapv:UnspecifiedMatching +OMIM:300083 PRKX skos:exactMatch hgnc.symbol:PRKX semapv:UnspecifiedMatching OMIM:300083 PRKX skos:exactMatch ncbigene:5613 semapv:UnspecifiedMatching -OMIM:300084 NONO skos:exactMatch hgnc:NONO semapv:UnspecifiedMatching +OMIM:300084 NONO skos:exactMatch hgnc.symbol:7871 semapv:UnspecifiedMatching +OMIM:300084 NONO skos:exactMatch hgnc.symbol:NONO semapv:UnspecifiedMatching OMIM:300084 NONO skos:exactMatch ncbigene:4841 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch UMLS:C1415216 semapv:UnspecifiedMatching -OMIM:300086 LPAR4 skos:exactMatch hgnc:LPAR4 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:4478 semapv:UnspecifiedMatching +OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:LPAR4 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch ncbigene:2846 semapv:UnspecifiedMatching +OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:101039 semapv:UnspecifiedMatching +OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching -OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch orphanet.ordo:101039 semapv:UnspecifiedMatching -OMIM:300088 developmental and epileptic encephalopathy 9 skos:exactMatch orphanet.ordo:2076 semapv:UnspecifiedMatching -OMIM:300089 IDH3G skos:exactMatch hgnc:IDH3G semapv:UnspecifiedMatching +OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:5386 semapv:UnspecifiedMatching +OMIM:300089 IDH3G skos:exactMatch hgnc.symbol:IDH3G semapv:UnspecifiedMatching OMIM:300089 IDH3G skos:exactMatch ncbigene:3421 semapv:UnspecifiedMatching -OMIM:300090 SSR4 skos:exactMatch hgnc:SSR4 semapv:UnspecifiedMatching +OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:11326 semapv:UnspecifiedMatching +OMIM:300090 SSR4 skos:exactMatch hgnc.symbol:SSR4 semapv:UnspecifiedMatching OMIM:300090 SSR4 skos:exactMatch ncbigene:6748 semapv:UnspecifiedMatching -OMIM:300091 FIGF skos:exactMatch hgnc:VEGFD semapv:UnspecifiedMatching +OMIM:300091 FIGF skos:exactMatch hgnc.symbol:3708 semapv:UnspecifiedMatching +OMIM:300091 FIGF skos:exactMatch hgnc.symbol:VEGFD semapv:UnspecifiedMatching OMIM:300091 FIGF skos:exactMatch ncbigene:2277 semapv:UnspecifiedMatching -OMIM:300092 TEX28 skos:exactMatch hgnc:TEX28 semapv:UnspecifiedMatching +OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:2563 semapv:UnspecifiedMatching +OMIM:300092 TEX28 skos:exactMatch hgnc.symbol:TEX28 semapv:UnspecifiedMatching OMIM:300092 TEX28 skos:exactMatch ncbigene:1527 semapv:UnspecifiedMatching -OMIM:300093 GABRE skos:exactMatch hgnc:GABRE semapv:UnspecifiedMatching +OMIM:300093 GABRE skos:exactMatch hgnc.symbol:4085 semapv:UnspecifiedMatching +OMIM:300093 GABRE skos:exactMatch hgnc.symbol:GABRE semapv:UnspecifiedMatching OMIM:300093 GABRE skos:exactMatch ncbigene:2564 semapv:UnspecifiedMatching -OMIM:300095 SLC16A2 skos:exactMatch hgnc:SLC16A2 semapv:UnspecifiedMatching +OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:10923 semapv:UnspecifiedMatching +OMIM:300095 SLC16A2 skos:exactMatch hgnc.symbol:SLC16A2 semapv:UnspecifiedMatching OMIM:300095 SLC16A2 skos:exactMatch ncbigene:6567 semapv:UnspecifiedMatching -OMIM:300096 TSPAN7 skos:exactMatch hgnc:TSPAN7 semapv:UnspecifiedMatching +OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:11854 semapv:UnspecifiedMatching +OMIM:300096 TSPAN7 skos:exactMatch hgnc.symbol:TSPAN7 semapv:UnspecifiedMatching OMIM:300096 TSPAN7 skos:exactMatch ncbigene:7102 semapv:UnspecifiedMatching -OMIM:300097 MAGEB1 skos:exactMatch hgnc:MAGEB1 semapv:UnspecifiedMatching +OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:6808 semapv:UnspecifiedMatching +OMIM:300097 MAGEB1 skos:exactMatch hgnc.symbol:MAGEB1 semapv:UnspecifiedMatching OMIM:300097 MAGEB1 skos:exactMatch ncbigene:4112 semapv:UnspecifiedMatching -OMIM:300098 MAGEB2 skos:exactMatch hgnc:MAGEB2 semapv:UnspecifiedMatching +OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:6809 semapv:UnspecifiedMatching +OMIM:300098 MAGEB2 skos:exactMatch hgnc.symbol:MAGEB2 semapv:UnspecifiedMatching OMIM:300098 MAGEB2 skos:exactMatch ncbigene:4113 semapv:UnspecifiedMatching -OMIM:300101 BMX skos:exactMatch hgnc:BMX semapv:UnspecifiedMatching +OMIM:300101 BMX skos:exactMatch hgnc.symbol:1079 semapv:UnspecifiedMatching +OMIM:300101 BMX skos:exactMatch hgnc.symbol:BMX semapv:UnspecifiedMatching OMIM:300101 BMX skos:exactMatch ncbigene:660 semapv:UnspecifiedMatching OMIM:300102 PNPLA4 skos:exactMatch UMLS:C1538687 semapv:UnspecifiedMatching OMIM:300102 PNPLA4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:300102 PNPLA4 skos:exactMatch hgnc:PNPLA4 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:24887 semapv:UnspecifiedMatching +OMIM:300102 PNPLA4 skos:exactMatch hgnc.symbol:PNPLA4 semapv:UnspecifiedMatching OMIM:300102 PNPLA4 skos:exactMatch ncbigene:8228 semapv:UnspecifiedMatching -OMIM:300103 SHROOM2 skos:exactMatch hgnc:SHROOM2 semapv:UnspecifiedMatching +OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:630 semapv:UnspecifiedMatching +OMIM:300103 SHROOM2 skos:exactMatch hgnc.symbol:SHROOM2 semapv:UnspecifiedMatching OMIM:300103 SHROOM2 skos:exactMatch ncbigene:357 semapv:UnspecifiedMatching -OMIM:300104 GDI1 skos:exactMatch hgnc:GDI1 semapv:UnspecifiedMatching +OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:4226 semapv:UnspecifiedMatching +OMIM:300104 GDI1 skos:exactMatch hgnc.symbol:GDI1 semapv:UnspecifiedMatching OMIM:300104 GDI1 skos:exactMatch ncbigene:2664 semapv:UnspecifiedMatching -OMIM:300105 SMS skos:exactMatch hgnc:SMS semapv:UnspecifiedMatching +OMIM:300105 SMS skos:exactMatch hgnc.symbol:11123 semapv:UnspecifiedMatching +OMIM:300105 SMS skos:exactMatch hgnc.symbol:SMS semapv:UnspecifiedMatching OMIM:300105 SMS skos:exactMatch ncbigene:6611 semapv:UnspecifiedMatching -OMIM:300107 BRS3 skos:exactMatch hgnc:BRS3 semapv:UnspecifiedMatching +OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:1113 semapv:UnspecifiedMatching +OMIM:300107 BRS3 skos:exactMatch hgnc.symbol:BRS3 semapv:UnspecifiedMatching OMIM:300107 BRS3 skos:exactMatch ncbigene:680 semapv:UnspecifiedMatching -OMIM:300108 DIAPH2 skos:exactMatch hgnc:DIAPH2 semapv:UnspecifiedMatching +OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:2877 semapv:UnspecifiedMatching +OMIM:300108 DIAPH2 skos:exactMatch hgnc.symbol:DIAPH2 semapv:UnspecifiedMatching OMIM:300108 DIAPH2 skos:exactMatch ncbigene:1730 semapv:UnspecifiedMatching -OMIM:300109 PPEF1 skos:exactMatch hgnc:PPEF1 semapv:UnspecifiedMatching +OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:9243 semapv:UnspecifiedMatching +OMIM:300109 PPEF1 skos:exactMatch hgnc.symbol:PPEF1 semapv:UnspecifiedMatching OMIM:300109 PPEF1 skos:exactMatch ncbigene:5475 semapv:UnspecifiedMatching -OMIM:300110 CACNA1F skos:exactMatch hgnc:CACNA1F semapv:UnspecifiedMatching +OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:1393 semapv:UnspecifiedMatching +OMIM:300110 CACNA1F skos:exactMatch hgnc.symbol:CACNA1F semapv:UnspecifiedMatching OMIM:300110 CACNA1F skos:exactMatch ncbigene:778 semapv:UnspecifiedMatching -OMIM:300111 PRICKLE3 skos:exactMatch hgnc:PRICKLE3 semapv:UnspecifiedMatching +OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:6645 semapv:UnspecifiedMatching +OMIM:300111 PRICKLE3 skos:exactMatch hgnc.symbol:PRICKLE3 semapv:UnspecifiedMatching OMIM:300111 PRICKLE3 skos:exactMatch ncbigene:4007 semapv:UnspecifiedMatching -OMIM:300112 PLP2 skos:exactMatch hgnc:PLP2 semapv:UnspecifiedMatching +OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:9087 semapv:UnspecifiedMatching +OMIM:300112 PLP2 skos:exactMatch hgnc.symbol:PLP2 semapv:UnspecifiedMatching OMIM:300112 PLP2 skos:exactMatch ncbigene:5355 semapv:UnspecifiedMatching -OMIM:300116 MTCP1 skos:exactMatch hgnc:MTCP1 semapv:UnspecifiedMatching +OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:7423 semapv:UnspecifiedMatching +OMIM:300116 MTCP1 skos:exactMatch hgnc.symbol:MTCP1 semapv:UnspecifiedMatching OMIM:300116 MTCP1 skos:exactMatch ncbigene:4515 semapv:UnspecifiedMatching -OMIM:300117 NAP1L3 skos:exactMatch hgnc:NAP1L3 semapv:UnspecifiedMatching +OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:7639 semapv:UnspecifiedMatching +OMIM:300117 NAP1L3 skos:exactMatch hgnc.symbol:NAP1L3 semapv:UnspecifiedMatching OMIM:300117 NAP1L3 skos:exactMatch ncbigene:4675 semapv:UnspecifiedMatching -OMIM:300118 ARHGAP6 skos:exactMatch hgnc:ARHGAP6 semapv:UnspecifiedMatching +OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:676 semapv:UnspecifiedMatching +OMIM:300118 ARHGAP6 skos:exactMatch hgnc.symbol:ARHGAP6 semapv:UnspecifiedMatching OMIM:300118 ARHGAP6 skos:exactMatch ncbigene:395 semapv:UnspecifiedMatching -OMIM:300119 IL13RA1 skos:exactMatch hgnc:IL13RA1 semapv:UnspecifiedMatching +OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:5974 semapv:UnspecifiedMatching +OMIM:300119 IL13RA1 skos:exactMatch hgnc.symbol:IL13RA1 semapv:UnspecifiedMatching OMIM:300119 IL13RA1 skos:exactMatch ncbigene:3597 semapv:UnspecifiedMatching -OMIM:300120 MAMLD1 skos:exactMatch hgnc:MAMLD1 semapv:UnspecifiedMatching +OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:2568 semapv:UnspecifiedMatching +OMIM:300120 MAMLD1 skos:exactMatch hgnc.symbol:MAMLD1 semapv:UnspecifiedMatching OMIM:300120 MAMLD1 skos:exactMatch ncbigene:10046 semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch UMLS:C1413938 semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch UMLS:C1848070 semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch UMLS:C4551968 semapv:UnspecifiedMatching -OMIM:300121 DCX skos:exactMatch hgnc:DCX semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch hgnc.symbol:2714 semapv:UnspecifiedMatching +OMIM:300121 DCX skos:exactMatch hgnc.symbol:DCX semapv:UnspecifiedMatching OMIM:300121 DCX skos:exactMatch ncbigene:1641 semapv:UnspecifiedMatching -OMIM:300124 GTPBP6 skos:exactMatch hgnc:GTPBP6 semapv:UnspecifiedMatching +OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:30189 semapv:UnspecifiedMatching +OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:GTPBP6 semapv:UnspecifiedMatching OMIM:300124 GTPBP6 skos:exactMatch ncbigene:8225 semapv:UnspecifiedMatching -OMIM:300126 DKC1 skos:exactMatch hgnc:DKC1 semapv:UnspecifiedMatching +OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:2890 semapv:UnspecifiedMatching +OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:DKC1 semapv:UnspecifiedMatching OMIM:300126 DKC1 skos:exactMatch ncbigene:1736 semapv:UnspecifiedMatching -OMIM:300127 OPHN1 skos:exactMatch hgnc:OPHN1 semapv:UnspecifiedMatching +OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:8148 semapv:UnspecifiedMatching +OMIM:300127 OPHN1 skos:exactMatch hgnc.symbol:OPHN1 semapv:UnspecifiedMatching OMIM:300127 OPHN1 skos:exactMatch ncbigene:4983 semapv:UnspecifiedMatching -OMIM:300128 KDM6A skos:exactMatch hgnc:KDM6A semapv:UnspecifiedMatching +OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:12637 semapv:UnspecifiedMatching +OMIM:300128 KDM6A skos:exactMatch hgnc.symbol:KDM6A semapv:UnspecifiedMatching OMIM:300128 KDM6A skos:exactMatch ncbigene:7403 semapv:UnspecifiedMatching -OMIM:300130 IL13RA2 skos:exactMatch hgnc:IL13RA2 semapv:UnspecifiedMatching +OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:5975 semapv:UnspecifiedMatching +OMIM:300130 IL13RA2 skos:exactMatch hgnc.symbol:IL13RA2 semapv:UnspecifiedMatching OMIM:300130 IL13RA2 skos:exactMatch ncbigene:3598 semapv:UnspecifiedMatching -OMIM:300131 PLS3 skos:exactMatch hgnc:PLS3 semapv:UnspecifiedMatching +OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:9091 semapv:UnspecifiedMatching +OMIM:300131 PLS3 skos:exactMatch hgnc.symbol:PLS3 semapv:UnspecifiedMatching OMIM:300131 PLS3 skos:exactMatch ncbigene:5358 semapv:UnspecifiedMatching -OMIM:300132 TRO skos:exactMatch hgnc:TRO semapv:UnspecifiedMatching +OMIM:300132 TRO skos:exactMatch hgnc.symbol:12326 semapv:UnspecifiedMatching +OMIM:300132 TRO skos:exactMatch hgnc.symbol:TRO semapv:UnspecifiedMatching OMIM:300132 TRO skos:exactMatch ncbigene:7216 semapv:UnspecifiedMatching -OMIM:300133 VBP1 skos:exactMatch hgnc:VBP1 semapv:UnspecifiedMatching +OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:12662 semapv:UnspecifiedMatching +OMIM:300133 VBP1 skos:exactMatch hgnc.symbol:VBP1 semapv:UnspecifiedMatching OMIM:300133 VBP1 skos:exactMatch ncbigene:7411 semapv:UnspecifiedMatching -OMIM:300134 DUSP9 skos:exactMatch hgnc:DUSP9 semapv:UnspecifiedMatching +OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:3076 semapv:UnspecifiedMatching +OMIM:300134 DUSP9 skos:exactMatch hgnc.symbol:DUSP9 semapv:UnspecifiedMatching OMIM:300134 DUSP9 skos:exactMatch ncbigene:1852 semapv:UnspecifiedMatching -OMIM:300135 ABCB7 skos:exactMatch hgnc:ABCB7 semapv:UnspecifiedMatching +OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:48 semapv:UnspecifiedMatching +OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:ABCB7 semapv:UnspecifiedMatching OMIM:300135 ABCB7 skos:exactMatch ncbigene:22 semapv:UnspecifiedMatching OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching -OMIM:300137 IGSF1 skos:exactMatch hgnc:IGSF1 semapv:UnspecifiedMatching +OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:5948 semapv:UnspecifiedMatching +OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:IGSF1 semapv:UnspecifiedMatching OMIM:300137 IGSF1 skos:exactMatch ncbigene:3547 semapv:UnspecifiedMatching -OMIM:300138 CLIC2 skos:exactMatch hgnc:CLIC2 semapv:UnspecifiedMatching +OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:2063 semapv:UnspecifiedMatching +OMIM:300138 CLIC2 skos:exactMatch hgnc.symbol:CLIC2 semapv:UnspecifiedMatching OMIM:300138 CLIC2 skos:exactMatch ncbigene:1193 semapv:UnspecifiedMatching -OMIM:300139 IGBP1 skos:exactMatch hgnc:IGBP1 semapv:UnspecifiedMatching +OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:5461 semapv:UnspecifiedMatching +OMIM:300139 IGBP1 skos:exactMatch hgnc.symbol:IGBP1 semapv:UnspecifiedMatching OMIM:300139 IGBP1 skos:exactMatch ncbigene:3476 semapv:UnspecifiedMatching -OMIM:300142 PAK3 skos:exactMatch hgnc:PAK3 semapv:UnspecifiedMatching +OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:8592 semapv:UnspecifiedMatching +OMIM:300142 PAK3 skos:exactMatch hgnc.symbol:PAK3 semapv:UnspecifiedMatching OMIM:300142 PAK3 skos:exactMatch ncbigene:5063 semapv:UnspecifiedMatching -OMIM:300144 GLUD2 skos:exactMatch hgnc:GLUD2 semapv:UnspecifiedMatching +OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:4336 semapv:UnspecifiedMatching +OMIM:300144 GLUD2 skos:exactMatch hgnc.symbol:GLUD2 semapv:UnspecifiedMatching OMIM:300144 GLUD2 skos:exactMatch ncbigene:2747 semapv:UnspecifiedMatching -OMIM:300145 XPNPEP2 skos:exactMatch hgnc:XPNPEP2 semapv:UnspecifiedMatching +OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:12823 semapv:UnspecifiedMatching +OMIM:300145 XPNPEP2 skos:exactMatch hgnc.symbol:XPNPEP2 semapv:UnspecifiedMatching OMIM:300145 XPNPEP2 skos:exactMatch ncbigene:7512 semapv:UnspecifiedMatching -OMIM:300146 CAPN6 skos:exactMatch hgnc:CAPN6 semapv:UnspecifiedMatching +OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:1483 semapv:UnspecifiedMatching +OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:CAPN6 semapv:UnspecifiedMatching OMIM:300146 CAPN6 skos:exactMatch ncbigene:827 semapv:UnspecifiedMatching +OMIM:300148 mehmo syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching OMIM:300148 mehmo syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching -OMIM:300148 mehmo syndrome skos:exactMatch orphanet.ordo:85282 semapv:UnspecifiedMatching -OMIM:300149 CITED1 skos:exactMatch hgnc:CITED1 semapv:UnspecifiedMatching +OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:1986 semapv:UnspecifiedMatching +OMIM:300149 CITED1 skos:exactMatch hgnc.symbol:CITED1 semapv:UnspecifiedMatching OMIM:300149 CITED1 skos:exactMatch ncbigene:4435 semapv:UnspecifiedMatching -OMIM:300150 SLC25A5 skos:exactMatch hgnc:SLC25A5 semapv:UnspecifiedMatching +OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:10991 semapv:UnspecifiedMatching +OMIM:300150 SLC25A5 skos:exactMatch hgnc.symbol:SLC25A5 semapv:UnspecifiedMatching OMIM:300150 SLC25A5 skos:exactMatch ncbigene:292 semapv:UnspecifiedMatching -OMIM:300151 SLC25A6 skos:exactMatch hgnc:SLC25A6 semapv:UnspecifiedMatching +OMIM:300151 SLC25A6 skos:exactMatch hgnc.symbol:10992 semapv:UnspecifiedMatching +OMIM:300151 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching OMIM:300151 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching -OMIM:300152 MAGEB3 skos:exactMatch hgnc:MAGEB3 semapv:UnspecifiedMatching +OMIM:300152 MAGEB3 skos:exactMatch hgnc.symbol:6810 semapv:UnspecifiedMatching +OMIM:300152 MAGEB3 skos:exactMatch hgnc.symbol:MAGEB3 semapv:UnspecifiedMatching OMIM:300152 MAGEB3 skos:exactMatch ncbigene:4114 semapv:UnspecifiedMatching -OMIM:300153 MAGEB4 skos:exactMatch hgnc:MAGEB4 semapv:UnspecifiedMatching +OMIM:300153 MAGEB4 skos:exactMatch hgnc.symbol:6811 semapv:UnspecifiedMatching +OMIM:300153 MAGEB4 skos:exactMatch hgnc.symbol:MAGEB4 semapv:UnspecifiedMatching OMIM:300153 MAGEB4 skos:exactMatch ncbigene:4115 semapv:UnspecifiedMatching -OMIM:300154 ESX1L skos:exactMatch hgnc:ESX1 semapv:UnspecifiedMatching +OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:14865 semapv:UnspecifiedMatching +OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:ESX1 semapv:UnspecifiedMatching OMIM:300154 ESX1L skos:exactMatch ncbigene:80712 semapv:UnspecifiedMatching -OMIM:300156 CTAG1B skos:exactMatch hgnc:CTAG1B semapv:UnspecifiedMatching +OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:2491 semapv:UnspecifiedMatching +OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:CTAG1B semapv:UnspecifiedMatching OMIM:300156 CTAG1B skos:exactMatch ncbigene:1485 semapv:UnspecifiedMatching -OMIM:300157 ACSL4 skos:exactMatch hgnc:ACSL4 semapv:UnspecifiedMatching +OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:3571 semapv:UnspecifiedMatching +OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:ACSL4 semapv:UnspecifiedMatching OMIM:300157 ACSL4 skos:exactMatch ncbigene:2182 semapv:UnspecifiedMatching -OMIM:300159 TMSB4X skos:exactMatch hgnc:TMSB4X semapv:UnspecifiedMatching +OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:11881 semapv:UnspecifiedMatching +OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:TMSB4X semapv:UnspecifiedMatching OMIM:300159 TMSB4X skos:exactMatch ncbigene:7114 semapv:UnspecifiedMatching OMIM:300160 DDX3X skos:exactMatch UMLS:C1413962 semapv:UnspecifiedMatching OMIM:300160 DDX3X skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching -OMIM:300160 DDX3X skos:exactMatch hgnc:DDX3X semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch hgnc.symbol:2745 semapv:UnspecifiedMatching +OMIM:300160 DDX3X skos:exactMatch hgnc.symbol:DDX3X semapv:UnspecifiedMatching OMIM:300160 DDX3X skos:exactMatch ncbigene:1654 semapv:UnspecifiedMatching -OMIM:300161 EIF2S3 skos:exactMatch hgnc:EIF2S3 semapv:UnspecifiedMatching +OMIM:300161 EIF2S3 skos:exactMatch hgnc.symbol:3267 semapv:UnspecifiedMatching +OMIM:300161 EIF2S3 skos:exactMatch hgnc.symbol:EIF2S3 semapv:UnspecifiedMatching OMIM:300161 EIF2S3 skos:exactMatch ncbigene:1968 semapv:UnspecifiedMatching -OMIM:300162 ASMTL skos:exactMatch hgnc:ASMTL semapv:UnspecifiedMatching +OMIM:300162 ASMTL skos:exactMatch hgnc.symbol:751 semapv:UnspecifiedMatching +OMIM:300162 ASMTL skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching OMIM:300162 ASMTL skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching OMIM:300163 FHL1 skos:exactMatch UMLS:C1414612 semapv:UnspecifiedMatching OMIM:300163 FHL1 skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching @@ -7513,20 +9948,25 @@ OMIM:300163 FHL1 skos:exactMatch UMLS:C2678061 semapv:UnspecifiedMatching OMIM:300163 FHL1 skos:exactMatch UMLS:C2749106 semapv:UnspecifiedMatching OMIM:300163 FHL1 skos:exactMatch UMLS:C4225599 semapv:UnspecifiedMatching OMIM:300163 FHL1 skos:exactMatch UMLS:C4225600 semapv:UnspecifiedMatching -OMIM:300163 FHL1 skos:exactMatch hgnc:FHL1 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch hgnc.symbol:3702 semapv:UnspecifiedMatching +OMIM:300163 FHL1 skos:exactMatch hgnc.symbol:FHL1 semapv:UnspecifiedMatching OMIM:300163 FHL1 skos:exactMatch ncbigene:2273 semapv:UnspecifiedMatching -OMIM:300164 INE1 skos:exactMatch hgnc:INE1 semapv:UnspecifiedMatching +OMIM:300164 INE1 skos:exactMatch hgnc.symbol:6060 semapv:UnspecifiedMatching +OMIM:300164 INE1 skos:exactMatch hgnc.symbol:INE1 semapv:UnspecifiedMatching OMIM:300164 INE1 skos:exactMatch ncbigene:8552 semapv:UnspecifiedMatching -OMIM:300165 INE2 skos:exactMatch hgnc:INE2 semapv:UnspecifiedMatching +OMIM:300165 INE2 skos:exactMatch hgnc.symbol:6061 semapv:UnspecifiedMatching +OMIM:300165 INE2 skos:exactMatch hgnc.symbol:INE2 semapv:UnspecifiedMatching OMIM:300165 INE2 skos:exactMatch ncbigene:8551 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 semapv:UnspecifiedMatching +OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch UMLS:C1846265 semapv:UnspecifiedMatching -OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch orphanet.ordo:2712 semapv:UnspecifiedMatching -OMIM:300166 microphthalmia, syndromic 2 skos:exactMatch orphanet.ordo:568 semapv:UnspecifiedMatching -OMIM:300167 HEPH skos:exactMatch hgnc:HEPH semapv:UnspecifiedMatching +OMIM:300167 HEPH skos:exactMatch hgnc.symbol:4866 semapv:UnspecifiedMatching +OMIM:300167 HEPH skos:exactMatch hgnc.symbol:HEPH semapv:UnspecifiedMatching OMIM:300167 HEPH skos:exactMatch ncbigene:9843 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch UMLS:C1415196 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching -OMIM:300168 GPC4 skos:exactMatch hgnc:GPC4 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:4452 semapv:UnspecifiedMatching +OMIM:300168 GPC4 skos:exactMatch hgnc.symbol:GPC4 semapv:UnspecifiedMatching OMIM:300168 GPC4 skos:exactMatch ncbigene:2239 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C1826618 semapv:UnspecifiedMatching @@ -7534,144 +9974,201 @@ OMIM:300169 AIFM1 skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C1846148 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C3151753 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch UMLS:C5231520 semapv:UnspecifiedMatching -OMIM:300169 AIFM1 skos:exactMatch hgnc:AIFM1 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:8768 semapv:UnspecifiedMatching +OMIM:300169 AIFM1 skos:exactMatch hgnc.symbol:AIFM1 semapv:UnspecifiedMatching OMIM:300169 AIFM1 skos:exactMatch ncbigene:9131 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch UMLS:C1413833 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch UMLS:C1510460 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch UMLS:C2749019 semapv:UnspecifiedMatching -OMIM:300170 OFD1 skos:exactMatch hgnc:OFD1 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:2567 semapv:UnspecifiedMatching +OMIM:300170 OFD1 skos:exactMatch hgnc.symbol:OFD1 semapv:UnspecifiedMatching OMIM:300170 OFD1 skos:exactMatch ncbigene:8481 semapv:UnspecifiedMatching -OMIM:300171 MTMR1 skos:exactMatch hgnc:MTMR1 semapv:UnspecifiedMatching +OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:7449 semapv:UnspecifiedMatching +OMIM:300171 MTMR1 skos:exactMatch hgnc.symbol:MTMR1 semapv:UnspecifiedMatching OMIM:300171 MTMR1 skos:exactMatch ncbigene:8776 semapv:UnspecifiedMatching -OMIM:300172 CASK skos:exactMatch hgnc:CASK semapv:UnspecifiedMatching +OMIM:300172 CASK skos:exactMatch hgnc.symbol:1497 semapv:UnspecifiedMatching +OMIM:300172 CASK skos:exactMatch hgnc.symbol:CASK semapv:UnspecifiedMatching OMIM:300172 CASK skos:exactMatch ncbigene:8573 semapv:UnspecifiedMatching -OMIM:300173 MAGEA2 skos:exactMatch hgnc:MAGEA2 semapv:UnspecifiedMatching +OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:6800 semapv:UnspecifiedMatching +OMIM:300173 MAGEA2 skos:exactMatch hgnc.symbol:MAGEA2 semapv:UnspecifiedMatching OMIM:300173 MAGEA2 skos:exactMatch ncbigene:4101 semapv:UnspecifiedMatching -OMIM:300174 MAGEA3 skos:exactMatch hgnc:MAGEA3 semapv:UnspecifiedMatching +OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:6801 semapv:UnspecifiedMatching +OMIM:300174 MAGEA3 skos:exactMatch hgnc.symbol:MAGEA3 semapv:UnspecifiedMatching OMIM:300174 MAGEA3 skos:exactMatch ncbigene:4102 semapv:UnspecifiedMatching -OMIM:300175 MAGEA4 skos:exactMatch hgnc:MAGEA4 semapv:UnspecifiedMatching +OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:6802 semapv:UnspecifiedMatching +OMIM:300175 MAGEA4 skos:exactMatch hgnc.symbol:MAGEA4 semapv:UnspecifiedMatching OMIM:300175 MAGEA4 skos:exactMatch ncbigene:4103 semapv:UnspecifiedMatching -OMIM:300176 MAGEA6 skos:exactMatch hgnc:MAGEA6 semapv:UnspecifiedMatching +OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:6804 semapv:UnspecifiedMatching +OMIM:300176 MAGEA6 skos:exactMatch hgnc.symbol:MAGEA6 semapv:UnspecifiedMatching OMIM:300176 MAGEA6 skos:exactMatch ncbigene:4105 semapv:UnspecifiedMatching -OMIM:300177 MAGEA12 skos:exactMatch hgnc:MAGEA12 semapv:UnspecifiedMatching +OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:6799 semapv:UnspecifiedMatching +OMIM:300177 MAGEA12 skos:exactMatch hgnc.symbol:MAGEA12 semapv:UnspecifiedMatching OMIM:300177 MAGEA12 skos:exactMatch ncbigene:4111 semapv:UnspecifiedMatching -OMIM:300178 ZBED1 skos:exactMatch hgnc:ZBED1 semapv:UnspecifiedMatching +OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:447 semapv:UnspecifiedMatching +OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:ZBED1 semapv:UnspecifiedMatching OMIM:300178 ZBED1 skos:exactMatch ncbigene:9189 semapv:UnspecifiedMatching -OMIM:300180 ARSL skos:exactMatch hgnc:ARSL semapv:UnspecifiedMatching +OMIM:300180 ARSL skos:exactMatch hgnc.symbol:719 semapv:UnspecifiedMatching +OMIM:300180 ARSL skos:exactMatch hgnc.symbol:ARSL semapv:UnspecifiedMatching OMIM:300180 ARSL skos:exactMatch ncbigene:415 semapv:UnspecifiedMatching -OMIM:300181 TSIX skos:exactMatch hgnc:TSIX semapv:UnspecifiedMatching +OMIM:300181 TSIX skos:exactMatch hgnc.symbol:12377 semapv:UnspecifiedMatching +OMIM:300181 TSIX skos:exactMatch hgnc.symbol:TSIX semapv:UnspecifiedMatching OMIM:300181 TSIX skos:exactMatch ncbigene:9383 semapv:UnspecifiedMatching -OMIM:300182 MED14 skos:exactMatch hgnc:MED14 semapv:UnspecifiedMatching +OMIM:300182 MED14 skos:exactMatch hgnc.symbol:2370 semapv:UnspecifiedMatching +OMIM:300182 MED14 skos:exactMatch hgnc.symbol:MED14 semapv:UnspecifiedMatching OMIM:300182 MED14 skos:exactMatch ncbigene:9282 semapv:UnspecifiedMatching -OMIM:300185 AKAP4 skos:exactMatch hgnc:AKAP4 semapv:UnspecifiedMatching +OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:374 semapv:UnspecifiedMatching +OMIM:300185 AKAP4 skos:exactMatch hgnc.symbol:AKAP4 semapv:UnspecifiedMatching OMIM:300185 AKAP4 skos:exactMatch ncbigene:8852 semapv:UnspecifiedMatching -OMIM:300186 EIF1AX skos:exactMatch hgnc:EIF1AX semapv:UnspecifiedMatching +OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:3250 semapv:UnspecifiedMatching +OMIM:300186 EIF1AX skos:exactMatch hgnc.symbol:EIF1AX semapv:UnspecifiedMatching OMIM:300186 EIF1AX skos:exactMatch ncbigene:1964 semapv:UnspecifiedMatching -OMIM:300187 SRPX skos:exactMatch hgnc:SRPX semapv:UnspecifiedMatching +OMIM:300187 SRPX skos:exactMatch hgnc.symbol:11309 semapv:UnspecifiedMatching +OMIM:300187 SRPX skos:exactMatch hgnc.symbol:SRPX semapv:UnspecifiedMatching OMIM:300187 SRPX skos:exactMatch ncbigene:8406 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C0220769 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C1537677 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching -OMIM:300188 MED12 skos:exactMatch hgnc:MED12 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch hgnc.symbol:11957 semapv:UnspecifiedMatching +OMIM:300188 MED12 skos:exactMatch hgnc.symbol:MED12 semapv:UnspecifiedMatching OMIM:300188 MED12 skos:exactMatch ncbigene:9968 semapv:UnspecifiedMatching -OMIM:300189 DLG3 skos:exactMatch hgnc:DLG3 semapv:UnspecifiedMatching +OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:2902 semapv:UnspecifiedMatching +OMIM:300189 DLG3 skos:exactMatch hgnc.symbol:DLG3 semapv:UnspecifiedMatching OMIM:300189 DLG3 skos:exactMatch ncbigene:1741 semapv:UnspecifiedMatching -OMIM:300190 SH3BGRL skos:exactMatch hgnc:SH3BGRL semapv:UnspecifiedMatching +OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:10823 semapv:UnspecifiedMatching +OMIM:300190 SH3BGRL skos:exactMatch hgnc.symbol:SH3BGRL semapv:UnspecifiedMatching OMIM:300190 SH3BGRL skos:exactMatch ncbigene:6451 semapv:UnspecifiedMatching -OMIM:300191 TSPAN6 skos:exactMatch hgnc:TSPAN6 semapv:UnspecifiedMatching +OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:11858 semapv:UnspecifiedMatching +OMIM:300191 TSPAN6 skos:exactMatch hgnc.symbol:TSPAN6 semapv:UnspecifiedMatching OMIM:300191 TSPAN6 skos:exactMatch ncbigene:7105 semapv:UnspecifiedMatching -OMIM:300192 SSX2 skos:exactMatch hgnc:SSX2 semapv:UnspecifiedMatching +OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:11336 semapv:UnspecifiedMatching +OMIM:300192 SSX2 skos:exactMatch hgnc.symbol:SSX2 semapv:UnspecifiedMatching OMIM:300192 SSX2 skos:exactMatch ncbigene:6757 semapv:UnspecifiedMatching -OMIM:300193 HMGB3 skos:exactMatch hgnc:HMGB3 semapv:UnspecifiedMatching +OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:5004 semapv:UnspecifiedMatching +OMIM:300193 HMGB3 skos:exactMatch hgnc.symbol:HMGB3 semapv:UnspecifiedMatching OMIM:300193 HMGB3 skos:exactMatch ncbigene:3149 semapv:UnspecifiedMatching +OMIM:300194 amme complex skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching OMIM:300194 amme complex skos:exactMatch UMLS:C1846242 semapv:UnspecifiedMatching -OMIM:300194 amme complex skos:exactMatch orphanet.ordo:86818 semapv:UnspecifiedMatching -OMIM:300195 AMMECR1 skos:exactMatch hgnc:AMMECR1 semapv:UnspecifiedMatching +OMIM:300195 AMMECR1 skos:exactMatch hgnc.symbol:467 semapv:UnspecifiedMatching +OMIM:300195 AMMECR1 skos:exactMatch hgnc.symbol:AMMECR1 semapv:UnspecifiedMatching OMIM:300195 AMMECR1 skos:exactMatch ncbigene:9949 semapv:UnspecifiedMatching -OMIM:300196 TBL1X skos:exactMatch hgnc:TBL1X semapv:UnspecifiedMatching +OMIM:300196 TBL1X skos:exactMatch hgnc.symbol:11585 semapv:UnspecifiedMatching +OMIM:300196 TBL1X skos:exactMatch hgnc.symbol:TBL1X semapv:UnspecifiedMatching OMIM:300196 TBL1X skos:exactMatch ncbigene:6907 semapv:UnspecifiedMatching OMIM:300197 ATP6AP1 skos:exactMatch UMLS:C1412687 semapv:UnspecifiedMatching OMIM:300197 ATP6AP1 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching -OMIM:300197 ATP6AP1 skos:exactMatch hgnc:ATP6AP1 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:868 semapv:UnspecifiedMatching +OMIM:300197 ATP6AP1 skos:exactMatch hgnc.symbol:ATP6AP1 semapv:UnspecifiedMatching OMIM:300197 ATP6AP1 skos:exactMatch ncbigene:537 semapv:UnspecifiedMatching -OMIM:300198 GYG2 skos:exactMatch hgnc:GYG2 semapv:UnspecifiedMatching +OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:4700 semapv:UnspecifiedMatching +OMIM:300198 GYG2 skos:exactMatch hgnc.symbol:GYG2 semapv:UnspecifiedMatching OMIM:300198 GYG2 skos:exactMatch ncbigene:8908 semapv:UnspecifiedMatching -OMIM:300199 RBMX skos:exactMatch hgnc:RBMX semapv:UnspecifiedMatching +OMIM:300199 RBMX skos:exactMatch hgnc.symbol:9910 semapv:UnspecifiedMatching +OMIM:300199 RBMX skos:exactMatch hgnc.symbol:RBMX semapv:UnspecifiedMatching OMIM:300199 RBMX skos:exactMatch ncbigene:27316 semapv:UnspecifiedMatching -OMIM:300201 CYSLTR1 skos:exactMatch hgnc:CYSLTR1 semapv:UnspecifiedMatching +OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:17451 semapv:UnspecifiedMatching +OMIM:300201 CYSLTR1 skos:exactMatch hgnc.symbol:CYSLTR1 semapv:UnspecifiedMatching OMIM:300201 CYSLTR1 skos:exactMatch ncbigene:10800 semapv:UnspecifiedMatching -OMIM:300202 TRAPPC2 skos:exactMatch hgnc:TRAPPC2 semapv:UnspecifiedMatching +OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:23068 semapv:UnspecifiedMatching +OMIM:300202 TRAPPC2 skos:exactMatch hgnc.symbol:TRAPPC2 semapv:UnspecifiedMatching OMIM:300202 TRAPPC2 skos:exactMatch ncbigene:6399 semapv:UnspecifiedMatching OMIM:300203 CDKL5 skos:exactMatch UMLS:C1420484 semapv:UnspecifiedMatching OMIM:300203 CDKL5 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching -OMIM:300203 CDKL5 skos:exactMatch hgnc:CDKL5 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch hgnc.symbol:11411 semapv:UnspecifiedMatching +OMIM:300203 CDKL5 skos:exactMatch hgnc.symbol:CDKL5 semapv:UnspecifiedMatching OMIM:300203 CDKL5 skos:exactMatch ncbigene:6792 semapv:UnspecifiedMatching -OMIM:300204 MID2 skos:exactMatch hgnc:MID2 semapv:UnspecifiedMatching +OMIM:300204 MID2 skos:exactMatch hgnc.symbol:7096 semapv:UnspecifiedMatching +OMIM:300204 MID2 skos:exactMatch hgnc.symbol:MID2 semapv:UnspecifiedMatching OMIM:300204 MID2 skos:exactMatch ncbigene:11043 semapv:UnspecifiedMatching -OMIM:300205 EBP skos:exactMatch hgnc:EBP semapv:UnspecifiedMatching +OMIM:300205 EBP skos:exactMatch hgnc.symbol:3133 semapv:UnspecifiedMatching +OMIM:300205 EBP skos:exactMatch hgnc.symbol:EBP semapv:UnspecifiedMatching OMIM:300205 EBP skos:exactMatch ncbigene:10682 semapv:UnspecifiedMatching -OMIM:300206 IL1RAPL1 skos:exactMatch hgnc:IL1RAPL1 semapv:UnspecifiedMatching +OMIM:300206 IL1RAPL1 skos:exactMatch hgnc.symbol:5996 semapv:UnspecifiedMatching +OMIM:300206 IL1RAPL1 skos:exactMatch hgnc.symbol:IL1RAPL1 semapv:UnspecifiedMatching OMIM:300206 IL1RAPL1 skos:exactMatch ncbigene:11141 semapv:UnspecifiedMatching -OMIM:300207 GPR50 skos:exactMatch hgnc:GPR50 semapv:UnspecifiedMatching +OMIM:300207 GPR50 skos:exactMatch hgnc.symbol:4506 semapv:UnspecifiedMatching +OMIM:300207 GPR50 skos:exactMatch hgnc.symbol:GPR50 semapv:UnspecifiedMatching OMIM:300207 GPR50 skos:exactMatch ncbigene:9248 semapv:UnspecifiedMatching OMIM:300208 SCML2 skos:exactMatch UMLS:C1419852 semapv:UnspecifiedMatching -OMIM:300208 SCML2 skos:exactMatch hgnc:SCML2 semapv:UnspecifiedMatching +OMIM:300208 SCML2 skos:exactMatch hgnc.symbol:10581 semapv:UnspecifiedMatching +OMIM:300208 SCML2 skos:exactMatch hgnc.symbol:SCML2 semapv:UnspecifiedMatching OMIM:300208 SCML2 skos:exactMatch ncbigene:10389 semapv:UnspecifiedMatching +OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch Orphanet:79022 semapv:UnspecifiedMatching OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching -OMIM:300209 simpson-golabi-behmel syndrome, iia 2 skos:exactMatch orphanet.ordo:79022 semapv:UnspecifiedMatching -OMIM:300212 RGN skos:exactMatch hgnc:RGN semapv:UnspecifiedMatching +OMIM:300212 RGN skos:exactMatch hgnc.symbol:9989 semapv:UnspecifiedMatching +OMIM:300212 RGN skos:exactMatch hgnc.symbol:RGN semapv:UnspecifiedMatching OMIM:300212 RGN skos:exactMatch ncbigene:9104 semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch hgnc:RTL8C semapv:UnspecifiedMatching +OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:2569 semapv:UnspecifiedMatching +OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:RTL8C semapv:UnspecifiedMatching OMIM:300213 CXX1 skos:exactMatch ncbigene:8933 semapv:UnspecifiedMatching -OMIM:300214 PLXNB3 skos:exactMatch hgnc:PLXNB3 semapv:UnspecifiedMatching +OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:9105 semapv:UnspecifiedMatching +OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:PLXNB3 semapv:UnspecifiedMatching OMIM:300214 PLXNB3 skos:exactMatch ncbigene:5365 semapv:UnspecifiedMatching +OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching -OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch orphanet.ordo:452 semapv:UnspecifiedMatching -OMIM:300217 RAI2 skos:exactMatch hgnc:RAI2 semapv:UnspecifiedMatching +OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:9835 semapv:UnspecifiedMatching +OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:RAI2 semapv:UnspecifiedMatching OMIM:300217 RAI2 skos:exactMatch ncbigene:10742 semapv:UnspecifiedMatching -OMIM:300222 ITM2A skos:exactMatch hgnc:ITM2A semapv:UnspecifiedMatching +OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:6173 semapv:UnspecifiedMatching +OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:ITM2A semapv:UnspecifiedMatching OMIM:300222 ITM2A skos:exactMatch ncbigene:9452 semapv:UnspecifiedMatching -OMIM:300223 MAGEC1 skos:exactMatch hgnc:MAGEC1 semapv:UnspecifiedMatching +OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:6812 semapv:UnspecifiedMatching +OMIM:300223 MAGEC1 skos:exactMatch hgnc.symbol:MAGEC1 semapv:UnspecifiedMatching OMIM:300223 MAGEC1 skos:exactMatch ncbigene:9947 semapv:UnspecifiedMatching -OMIM:300224 MAGED1 skos:exactMatch hgnc:MAGED1 semapv:UnspecifiedMatching +OMIM:300224 MAGED1 skos:exactMatch hgnc.symbol:6813 semapv:UnspecifiedMatching +OMIM:300224 MAGED1 skos:exactMatch hgnc.symbol:MAGED1 semapv:UnspecifiedMatching OMIM:300224 MAGED1 skos:exactMatch ncbigene:9500 semapv:UnspecifiedMatching -OMIM:300225 NOX1 skos:exactMatch hgnc:NOX1 semapv:UnspecifiedMatching +OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:7889 semapv:UnspecifiedMatching +OMIM:300225 NOX1 skos:exactMatch hgnc.symbol:NOX1 semapv:UnspecifiedMatching OMIM:300225 NOX1 skos:exactMatch ncbigene:27035 semapv:UnspecifiedMatching -OMIM:300226 SMPX skos:exactMatch hgnc:SMPX semapv:UnspecifiedMatching +OMIM:300226 SMPX skos:exactMatch hgnc.symbol:11122 semapv:UnspecifiedMatching +OMIM:300226 SMPX skos:exactMatch hgnc.symbol:SMPX semapv:UnspecifiedMatching OMIM:300226 SMPX skos:exactMatch ncbigene:23676 semapv:UnspecifiedMatching OMIM:300227 SCML1 skos:exactMatch UMLS:C1419851 semapv:UnspecifiedMatching -OMIM:300227 SCML1 skos:exactMatch hgnc:SCML1 semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:10580 semapv:UnspecifiedMatching +OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:SCML1 semapv:UnspecifiedMatching OMIM:300227 SCML1 skos:exactMatch ncbigene:6322 semapv:UnspecifiedMatching -OMIM:300229 VCX skos:exactMatch hgnc:VCX semapv:UnspecifiedMatching +OMIM:300229 VCX skos:exactMatch hgnc.symbol:12667 semapv:UnspecifiedMatching +OMIM:300229 VCX skos:exactMatch hgnc.symbol:VCX semapv:UnspecifiedMatching OMIM:300229 VCX skos:exactMatch ncbigene:26609 semapv:UnspecifiedMatching -OMIM:300230 CA5B skos:exactMatch hgnc:CA5B semapv:UnspecifiedMatching +OMIM:300230 CA5B skos:exactMatch hgnc.symbol:1378 semapv:UnspecifiedMatching +OMIM:300230 CA5B skos:exactMatch hgnc.symbol:CA5B semapv:UnspecifiedMatching OMIM:300230 CA5B skos:exactMatch ncbigene:11238 semapv:UnspecifiedMatching -OMIM:300231 SLC9A6 skos:exactMatch hgnc:SLC9A6 semapv:UnspecifiedMatching +OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:11079 semapv:UnspecifiedMatching +OMIM:300231 SLC9A6 skos:exactMatch hgnc.symbol:SLC9A6 semapv:UnspecifiedMatching OMIM:300231 SLC9A6 skos:exactMatch ncbigene:10479 semapv:UnspecifiedMatching -OMIM:300234 UXT skos:exactMatch hgnc:UXT semapv:UnspecifiedMatching +OMIM:300234 UXT skos:exactMatch hgnc.symbol:12641 semapv:UnspecifiedMatching +OMIM:300234 UXT skos:exactMatch hgnc.symbol:UXT semapv:UnspecifiedMatching OMIM:300234 UXT skos:exactMatch ncbigene:8409 semapv:UnspecifiedMatching -OMIM:300235 ZXDA skos:exactMatch hgnc:ZXDA semapv:UnspecifiedMatching +OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:13198 semapv:UnspecifiedMatching +OMIM:300235 ZXDA skos:exactMatch hgnc.symbol:ZXDA semapv:UnspecifiedMatching OMIM:300235 ZXDA skos:exactMatch ncbigene:7789 semapv:UnspecifiedMatching -OMIM:300236 ZXDB skos:exactMatch hgnc:ZXDB semapv:UnspecifiedMatching +OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:13199 semapv:UnspecifiedMatching +OMIM:300236 ZXDB skos:exactMatch hgnc.symbol:ZXDB semapv:UnspecifiedMatching OMIM:300236 ZXDB skos:exactMatch ncbigene:158586 semapv:UnspecifiedMatching -OMIM:300237 TCEAL1 skos:exactMatch hgnc:TCEAL1 semapv:UnspecifiedMatching +OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:11616 semapv:UnspecifiedMatching +OMIM:300237 TCEAL1 skos:exactMatch hgnc.symbol:TCEAL1 semapv:UnspecifiedMatching OMIM:300237 TCEAL1 skos:exactMatch ncbigene:9338 semapv:UnspecifiedMatching -OMIM:300239 EGFL6 skos:exactMatch hgnc:EGFL6 semapv:UnspecifiedMatching +OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:3235 semapv:UnspecifiedMatching +OMIM:300239 EGFL6 skos:exactMatch hgnc.symbol:EGFL6 semapv:UnspecifiedMatching OMIM:300239 EGFL6 skos:exactMatch ncbigene:25975 semapv:UnspecifiedMatching -OMIM:300241 GPR34 skos:exactMatch hgnc:GPR34 semapv:UnspecifiedMatching +OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:4490 semapv:UnspecifiedMatching +OMIM:300241 GPR34 skos:exactMatch hgnc.symbol:GPR34 semapv:UnspecifiedMatching OMIM:300241 GPR34 skos:exactMatch ncbigene:2857 semapv:UnspecifiedMatching -OMIM:300242 SLC25A14 skos:exactMatch hgnc:SLC25A14 semapv:UnspecifiedMatching +OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:10984 semapv:UnspecifiedMatching +OMIM:300242 SLC25A14 skos:exactMatch hgnc.symbol:SLC25A14 semapv:UnspecifiedMatching OMIM:300242 SLC25A14 skos:exactMatch ncbigene:9016 semapv:UnspecifiedMatching +OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch Orphanet:85278 semapv:UnspecifiedMatching OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch UMLS:C2678194 semapv:UnspecifiedMatching -OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia skos:exactMatch orphanet.ordo:85278 semapv:UnspecifiedMatching +OMIM:300244 terminal osseous dysplasia skos:exactMatch Orphanet:88630 semapv:UnspecifiedMatching OMIM:300244 terminal osseous dysplasia skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching -OMIM:300244 terminal osseous dysplasia skos:exactMatch orphanet.ordo:88630 semapv:UnspecifiedMatching -OMIM:300246 PCDH11X skos:exactMatch hgnc:PCDH11X semapv:UnspecifiedMatching +OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:8656 semapv:UnspecifiedMatching +OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:PCDH11X semapv:UnspecifiedMatching OMIM:300246 PCDH11X skos:exactMatch ncbigene:27328 semapv:UnspecifiedMatching -OMIM:300247 BMP15 skos:exactMatch hgnc:BMP15 semapv:UnspecifiedMatching +OMIM:300247 BMP15 skos:exactMatch hgnc.symbol:1068 semapv:UnspecifiedMatching +OMIM:300247 BMP15 skos:exactMatch hgnc.symbol:BMP15 semapv:UnspecifiedMatching OMIM:300247 BMP15 skos:exactMatch ncbigene:9210 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C1416380 semapv:UnspecifiedMatching @@ -7680,242 +10177,335 @@ OMIM:300248 IKBKG skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C4749069 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C5394562 semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch UMLS:C5394563 semapv:UnspecifiedMatching -OMIM:300248 IKBKG skos:exactMatch hgnc:IKBKG semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:5961 semapv:UnspecifiedMatching +OMIM:300248 IKBKG skos:exactMatch hgnc.symbol:IKBKG semapv:UnspecifiedMatching OMIM:300248 IKBKG skos:exactMatch ncbigene:8517 semapv:UnspecifiedMatching OMIM:300249 TIMM17B skos:exactMatch UMLS:C1424892 semapv:UnspecifiedMatching -OMIM:300249 TIMM17B skos:exactMatch hgnc:TIMM17B semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:17310 semapv:UnspecifiedMatching +OMIM:300249 TIMM17B skos:exactMatch hgnc.symbol:TIMM17B semapv:UnspecifiedMatching OMIM:300249 TIMM17B skos:exactMatch ncbigene:10245 semapv:UnspecifiedMatching -OMIM:300252 PIN4 skos:exactMatch hgnc:PIN4 semapv:UnspecifiedMatching +OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:8992 semapv:UnspecifiedMatching +OMIM:300252 PIN4 skos:exactMatch hgnc.symbol:PIN4 semapv:UnspecifiedMatching OMIM:300252 PIN4 skos:exactMatch ncbigene:5303 semapv:UnspecifiedMatching -OMIM:300253 GPR173 skos:exactMatch hgnc:GPR173 semapv:UnspecifiedMatching +OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:18186 semapv:UnspecifiedMatching +OMIM:300253 GPR173 skos:exactMatch hgnc.symbol:GPR173 semapv:UnspecifiedMatching OMIM:300253 GPR173 skos:exactMatch ncbigene:54328 semapv:UnspecifiedMatching -OMIM:300254 SUV39H1 skos:exactMatch hgnc:SUV39H1 semapv:UnspecifiedMatching +OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:11479 semapv:UnspecifiedMatching +OMIM:300254 SUV39H1 skos:exactMatch hgnc.symbol:SUV39H1 semapv:UnspecifiedMatching OMIM:300254 SUV39H1 skos:exactMatch ncbigene:6839 semapv:UnspecifiedMatching -OMIM:300255 OGT skos:exactMatch hgnc:OGT semapv:UnspecifiedMatching +OMIM:300255 OGT skos:exactMatch hgnc.symbol:8127 semapv:UnspecifiedMatching +OMIM:300255 OGT skos:exactMatch hgnc.symbol:OGT semapv:UnspecifiedMatching OMIM:300255 OGT skos:exactMatch ncbigene:8473 semapv:UnspecifiedMatching -OMIM:300256 HSD17B10 skos:exactMatch hgnc:HSD17B10 semapv:UnspecifiedMatching +OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:4800 semapv:UnspecifiedMatching +OMIM:300256 HSD17B10 skos:exactMatch hgnc.symbol:HSD17B10 semapv:UnspecifiedMatching OMIM:300256 HSD17B10 skos:exactMatch ncbigene:3028 semapv:UnspecifiedMatching +OMIM:300257 danon disease skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching OMIM:300257 danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching -OMIM:300257 danon disease skos:exactMatch orphanet.ordo:34587 semapv:UnspecifiedMatching +OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching -OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield iia skos:exactMatch orphanet.ordo:85276 semapv:UnspecifiedMatching +OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching -OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius iia skos:exactMatch orphanet.ordo:85287 semapv:UnspecifiedMatching -OMIM:300264 UBQLN2 skos:exactMatch hgnc:UBQLN2 semapv:UnspecifiedMatching +OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:12509 semapv:UnspecifiedMatching +OMIM:300264 UBQLN2 skos:exactMatch hgnc.symbol:UBQLN2 semapv:UnspecifiedMatching OMIM:300264 UBQLN2 skos:exactMatch ncbigene:29978 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C1421583 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch UMLS:C4016468 semapv:UnspecifiedMatching -OMIM:300265 ZIC3 skos:exactMatch hgnc:ZIC3 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:12874 semapv:UnspecifiedMatching +OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:ZIC3 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch ncbigene:7547 semapv:UnspecifiedMatching -OMIM:300267 ARHGEF6 skos:exactMatch hgnc:ARHGEF6 semapv:UnspecifiedMatching +OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:685 semapv:UnspecifiedMatching +OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:ARHGEF6 semapv:UnspecifiedMatching OMIM:300267 ARHGEF6 skos:exactMatch ncbigene:9459 semapv:UnspecifiedMatching -OMIM:300269 HDAC8 skos:exactMatch hgnc:HDAC8 semapv:UnspecifiedMatching +OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:13315 semapv:UnspecifiedMatching +OMIM:300269 HDAC8 skos:exactMatch hgnc.symbol:HDAC8 semapv:UnspecifiedMatching OMIM:300269 HDAC8 skos:exactMatch ncbigene:55869 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch UMLS:C1333895 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch UMLS:C3275476 semapv:UnspecifiedMatching -OMIM:300272 HDAC6 skos:exactMatch hgnc:HDAC6 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:14064 semapv:UnspecifiedMatching +OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:HDAC6 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch ncbigene:10013 semapv:UnspecifiedMatching -OMIM:300275 NSDHL skos:exactMatch hgnc:NSDHL semapv:UnspecifiedMatching +OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:13398 semapv:UnspecifiedMatching +OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:NSDHL semapv:UnspecifiedMatching OMIM:300275 NSDHL skos:exactMatch ncbigene:50814 semapv:UnspecifiedMatching -OMIM:300276 EDA2R skos:exactMatch hgnc:EDA2R semapv:UnspecifiedMatching +OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:17756 semapv:UnspecifiedMatching +OMIM:300276 EDA2R skos:exactMatch hgnc.symbol:EDA2R semapv:UnspecifiedMatching OMIM:300276 EDA2R skos:exactMatch ncbigene:60401 semapv:UnspecifiedMatching -OMIM:300277 IL1RAPL2 skos:exactMatch hgnc:IL1RAPL2 semapv:UnspecifiedMatching +OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:5997 semapv:UnspecifiedMatching +OMIM:300277 IL1RAPL2 skos:exactMatch hgnc.symbol:IL1RAPL2 semapv:UnspecifiedMatching OMIM:300277 IL1RAPL2 skos:exactMatch ncbigene:26280 semapv:UnspecifiedMatching -OMIM:300278 NYX skos:exactMatch hgnc:NYX semapv:UnspecifiedMatching +OMIM:300278 NYX skos:exactMatch hgnc.symbol:8082 semapv:UnspecifiedMatching +OMIM:300278 NYX skos:exactMatch hgnc.symbol:NYX semapv:UnspecifiedMatching OMIM:300278 NYX skos:exactMatch ncbigene:60506 semapv:UnspecifiedMatching OMIM:300280 uruguay faciocardiomusculoskeletal syndrome skos:exactMatch UMLS:C1846010 semapv:UnspecifiedMatching -OMIM:300281 KCND1 skos:exactMatch hgnc:KCND1 semapv:UnspecifiedMatching +OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:6237 semapv:UnspecifiedMatching +OMIM:300281 KCND1 skos:exactMatch hgnc.symbol:KCND1 semapv:UnspecifiedMatching OMIM:300281 KCND1 skos:exactMatch ncbigene:3750 semapv:UnspecifiedMatching -OMIM:300282 ENOX2 skos:exactMatch hgnc:ENOX2 semapv:UnspecifiedMatching +OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:2259 semapv:UnspecifiedMatching +OMIM:300282 ENOX2 skos:exactMatch hgnc.symbol:ENOX2 semapv:UnspecifiedMatching OMIM:300282 ENOX2 skos:exactMatch ncbigene:10495 semapv:UnspecifiedMatching -OMIM:300283 IRAK1 skos:exactMatch hgnc:IRAK1 semapv:UnspecifiedMatching +OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:6112 semapv:UnspecifiedMatching +OMIM:300283 IRAK1 skos:exactMatch hgnc.symbol:IRAK1 semapv:UnspecifiedMatching OMIM:300283 IRAK1 skos:exactMatch ncbigene:3654 semapv:UnspecifiedMatching -OMIM:300284 RAB9 skos:exactMatch hgnc:RAB9A semapv:UnspecifiedMatching +OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:9792 semapv:UnspecifiedMatching +OMIM:300284 RAB9 skos:exactMatch hgnc.symbol:RAB9A semapv:UnspecifiedMatching OMIM:300284 RAB9 skos:exactMatch ncbigene:9367 semapv:UnspecifiedMatching -OMIM:300285 RAB9B skos:exactMatch hgnc:RAB9B semapv:UnspecifiedMatching +OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:14090 semapv:UnspecifiedMatching +OMIM:300285 RAB9B skos:exactMatch hgnc.symbol:RAB9B semapv:UnspecifiedMatching OMIM:300285 RAB9B skos:exactMatch ncbigene:51209 semapv:UnspecifiedMatching OMIM:300286 KLF8 skos:exactMatch UMLS:C1416663 semapv:UnspecifiedMatching -OMIM:300286 KLF8 skos:exactMatch hgnc:KLF8 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:6351 semapv:UnspecifiedMatching +OMIM:300286 KLF8 skos:exactMatch hgnc.symbol:KLF8 semapv:UnspecifiedMatching OMIM:300286 KLF8 skos:exactMatch ncbigene:11279 semapv:UnspecifiedMatching -OMIM:300287 PAGE4 skos:exactMatch hgnc:PAGE4 semapv:UnspecifiedMatching +OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:4108 semapv:UnspecifiedMatching +OMIM:300287 PAGE4 skos:exactMatch hgnc.symbol:PAGE4 semapv:UnspecifiedMatching OMIM:300287 PAGE4 skos:exactMatch ncbigene:9506 semapv:UnspecifiedMatching -OMIM:300288 PAGE1 skos:exactMatch hgnc:PAGE1 semapv:UnspecifiedMatching +OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:4107 semapv:UnspecifiedMatching +OMIM:300288 PAGE1 skos:exactMatch hgnc.symbol:PAGE1 semapv:UnspecifiedMatching OMIM:300288 PAGE1 skos:exactMatch ncbigene:8712 semapv:UnspecifiedMatching -OMIM:300289 XAGE1B skos:exactMatch hgnc:XAGE1B semapv:UnspecifiedMatching +OMIM:300289 XAGE1B skos:exactMatch hgnc.symbol:25400 semapv:UnspecifiedMatching +OMIM:300289 XAGE1B skos:exactMatch hgnc.symbol:XAGE1B semapv:UnspecifiedMatching OMIM:300289 XAGE1B skos:exactMatch ncbigene:653067 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:69088 semapv:UnspecifiedMatching +OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1845919 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846006 semapv:UnspecifiedMatching OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch UMLS:C1846008 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch orphanet.ordo:238468 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch orphanet.ordo:69088 semapv:UnspecifiedMatching -OMIM:300291 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch orphanet.ordo:98813 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch UMLS:C0342288 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch UMLS:C1416467 semapv:UnspecifiedMatching -OMIM:300292 FOXP3 skos:exactMatch hgnc:FOXP3 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:6106 semapv:UnspecifiedMatching +OMIM:300292 FOXP3 skos:exactMatch hgnc.symbol:FOXP3 semapv:UnspecifiedMatching OMIM:300292 FOXP3 skos:exactMatch ncbigene:50943 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C1423501 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3806745 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C3887525 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C4746956 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching -OMIM:300294 MBTPS2 skos:exactMatch hgnc:MBTPS2 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:15455 semapv:UnspecifiedMatching +OMIM:300294 MBTPS2 skos:exactMatch hgnc.symbol:MBTPS2 semapv:UnspecifiedMatching OMIM:300294 MBTPS2 skos:exactMatch ncbigene:51360 semapv:UnspecifiedMatching -OMIM:300295 PIM2 skos:exactMatch hgnc:PIM2 semapv:UnspecifiedMatching +OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:8987 semapv:UnspecifiedMatching +OMIM:300295 PIM2 skos:exactMatch hgnc.symbol:PIM2 semapv:UnspecifiedMatching OMIM:300295 PIM2 skos:exactMatch ncbigene:11040 semapv:UnspecifiedMatching -OMIM:300296 PLAC1 skos:exactMatch hgnc:PLAC1 semapv:UnspecifiedMatching +OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:9044 semapv:UnspecifiedMatching +OMIM:300296 PLAC1 skos:exactMatch hgnc.symbol:PLAC1 semapv:UnspecifiedMatching OMIM:300296 PLAC1 skos:exactMatch ncbigene:10761 semapv:UnspecifiedMatching -OMIM:300297 APLN skos:exactMatch hgnc:APLN semapv:UnspecifiedMatching +OMIM:300297 APLN skos:exactMatch hgnc.symbol:16665 semapv:UnspecifiedMatching +OMIM:300297 APLN skos:exactMatch hgnc.symbol:APLN semapv:UnspecifiedMatching OMIM:300297 APLN skos:exactMatch ncbigene:8862 semapv:UnspecifiedMatching -OMIM:300298 UPF3B skos:exactMatch hgnc:UPF3B semapv:UnspecifiedMatching +OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:20439 semapv:UnspecifiedMatching +OMIM:300298 UPF3B skos:exactMatch hgnc.symbol:UPF3B semapv:UnspecifiedMatching OMIM:300298 UPF3B skos:exactMatch ncbigene:65109 semapv:UnspecifiedMatching -OMIM:300300 BTK skos:exactMatch hgnc:BTK semapv:UnspecifiedMatching +OMIM:300300 BTK skos:exactMatch hgnc.symbol:1133 semapv:UnspecifiedMatching +OMIM:300300 BTK skos:exactMatch hgnc.symbol:BTK semapv:UnspecifiedMatching OMIM:300300 BTK skos:exactMatch ncbigene:695 semapv:UnspecifiedMatching -OMIM:300302 DYNLT3 skos:exactMatch hgnc:DYNLT3 semapv:UnspecifiedMatching +OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:11694 semapv:UnspecifiedMatching +OMIM:300302 DYNLT3 skos:exactMatch hgnc.symbol:DYNLT3 semapv:UnspecifiedMatching OMIM:300302 DYNLT3 skos:exactMatch ncbigene:6990 semapv:UnspecifiedMatching -OMIM:300303 RPS6KA6 skos:exactMatch hgnc:RPS6KA6 semapv:UnspecifiedMatching +OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:10435 semapv:UnspecifiedMatching +OMIM:300303 RPS6KA6 skos:exactMatch hgnc.symbol:RPS6KA6 semapv:UnspecifiedMatching OMIM:300303 RPS6KA6 skos:exactMatch ncbigene:27330 semapv:UnspecifiedMatching -OMIM:300304 CUL4B skos:exactMatch hgnc:CUL4B semapv:UnspecifiedMatching +OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:2555 semapv:UnspecifiedMatching +OMIM:300304 CUL4B skos:exactMatch hgnc.symbol:CUL4B semapv:UnspecifiedMatching OMIM:300304 CUL4B skos:exactMatch ncbigene:8450 semapv:UnspecifiedMatching -OMIM:300305 SPANXA1 skos:exactMatch hgnc:SPANXA1 semapv:UnspecifiedMatching +OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:11218 semapv:UnspecifiedMatching +OMIM:300305 SPANXA1 skos:exactMatch hgnc.symbol:SPANXA1 semapv:UnspecifiedMatching OMIM:300305 SPANXA1 skos:exactMatch ncbigene:30014 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1420611 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1844830 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1844831 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch UMLS:C1844862 semapv:UnspecifiedMatching -OMIM:300307 TBX22 skos:exactMatch hgnc:TBX22 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:11600 semapv:UnspecifiedMatching +OMIM:300307 TBX22 skos:exactMatch hgnc.symbol:TBX22 semapv:UnspecifiedMatching OMIM:300307 TBX22 skos:exactMatch ncbigene:50945 semapv:UnspecifiedMatching -OMIM:300308 FTHL17 skos:exactMatch hgnc:FTHL17 semapv:UnspecifiedMatching +OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:3987 semapv:UnspecifiedMatching +OMIM:300308 FTHL17 skos:exactMatch hgnc.symbol:FTHL17 semapv:UnspecifiedMatching OMIM:300308 FTHL17 skos:exactMatch ncbigene:53940 semapv:UnspecifiedMatching -OMIM:300309 USP26 skos:exactMatch hgnc:USP26 semapv:UnspecifiedMatching +OMIM:300309 USP26 skos:exactMatch hgnc.symbol:13485 semapv:UnspecifiedMatching +OMIM:300309 USP26 skos:exactMatch hgnc.symbol:USP26 semapv:UnspecifiedMatching OMIM:300309 USP26 skos:exactMatch ncbigene:83844 semapv:UnspecifiedMatching -OMIM:300311 TEX11 skos:exactMatch hgnc:TEX11 semapv:UnspecifiedMatching +OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:11733 semapv:UnspecifiedMatching +OMIM:300311 TEX11 skos:exactMatch hgnc.symbol:TEX11 semapv:UnspecifiedMatching OMIM:300311 TEX11 skos:exactMatch ncbigene:56159 semapv:UnspecifiedMatching -OMIM:300312 TEX13A skos:exactMatch hgnc:TEX13A semapv:UnspecifiedMatching +OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:11735 semapv:UnspecifiedMatching +OMIM:300312 TEX13A skos:exactMatch hgnc.symbol:TEX13A semapv:UnspecifiedMatching OMIM:300312 TEX13A skos:exactMatch ncbigene:56157 semapv:UnspecifiedMatching -OMIM:300313 TEX13B skos:exactMatch hgnc:TEX13B semapv:UnspecifiedMatching +OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:11736 semapv:UnspecifiedMatching +OMIM:300313 TEX13B skos:exactMatch hgnc.symbol:TEX13B semapv:UnspecifiedMatching OMIM:300313 TEX13B skos:exactMatch ncbigene:56156 semapv:UnspecifiedMatching OMIM:300314 TAF7L skos:exactMatch UMLS:C1420574 semapv:UnspecifiedMatching -OMIM:300314 TAF7L skos:exactMatch hgnc:TAF7L semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:11548 semapv:UnspecifiedMatching +OMIM:300314 TAF7L skos:exactMatch hgnc.symbol:TAF7L semapv:UnspecifiedMatching OMIM:300314 TAF7L skos:exactMatch ncbigene:54457 semapv:UnspecifiedMatching -OMIM:300315 NXF2 skos:exactMatch hgnc:NXF2 semapv:UnspecifiedMatching +OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:8072 semapv:UnspecifiedMatching +OMIM:300315 NXF2 skos:exactMatch hgnc.symbol:NXF2 semapv:UnspecifiedMatching OMIM:300315 NXF2 skos:exactMatch ncbigene:56001 semapv:UnspecifiedMatching -OMIM:300316 NXF3 skos:exactMatch hgnc:NXF3 semapv:UnspecifiedMatching +OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:8073 semapv:UnspecifiedMatching +OMIM:300316 NXF3 skos:exactMatch hgnc.symbol:NXF3 semapv:UnspecifiedMatching OMIM:300316 NXF3 skos:exactMatch ncbigene:56000 semapv:UnspecifiedMatching -OMIM:300317 REPS2 skos:exactMatch hgnc:REPS2 semapv:UnspecifiedMatching +OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:9963 semapv:UnspecifiedMatching +OMIM:300317 REPS2 skos:exactMatch hgnc.symbol:REPS2 semapv:UnspecifiedMatching OMIM:300317 REPS2 skos:exactMatch ncbigene:9185 semapv:UnspecifiedMatching -OMIM:300318 NXF4 skos:exactMatch hgnc:NXF4 semapv:UnspecifiedMatching +OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:8074 semapv:UnspecifiedMatching +OMIM:300318 NXF4 skos:exactMatch hgnc.symbol:NXF4 semapv:UnspecifiedMatching OMIM:300318 NXF4 skos:exactMatch ncbigene:55999 semapv:UnspecifiedMatching -OMIM:300319 NXF5 skos:exactMatch hgnc:NXF5 semapv:UnspecifiedMatching +OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:8075 semapv:UnspecifiedMatching +OMIM:300319 NXF5 skos:exactMatch hgnc.symbol:NXF5 semapv:UnspecifiedMatching OMIM:300319 NXF5 skos:exactMatch ncbigene:55998 semapv:UnspecifiedMatching -OMIM:300320 NXT2 skos:exactMatch hgnc:NXT2 semapv:UnspecifiedMatching +OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:18151 semapv:UnspecifiedMatching +OMIM:300320 NXT2 skos:exactMatch hgnc.symbol:NXT2 semapv:UnspecifiedMatching OMIM:300320 NXT2 skos:exactMatch ncbigene:55916 semapv:UnspecifiedMatching +OMIM:300322 lesch-nyhan syndrome skos:exactMatch Orphanet:510 semapv:UnspecifiedMatching OMIM:300322 lesch-nyhan syndrome skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching -OMIM:300322 lesch-nyhan syndrome skos:exactMatch orphanet.ordo:510 semapv:UnspecifiedMatching +OMIM:300323 hyperuricemia, hprt-related skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching OMIM:300323 hyperuricemia, hprt-related skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching -OMIM:300323 hyperuricemia, hprt-related skos:exactMatch orphanet.ordo:79233 semapv:UnspecifiedMatching -OMIM:300325 SSX3 skos:exactMatch hgnc:SSX3 semapv:UnspecifiedMatching +OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:11337 semapv:UnspecifiedMatching +OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:SSX3 semapv:UnspecifiedMatching OMIM:300325 SSX3 skos:exactMatch ncbigene:10214 semapv:UnspecifiedMatching -OMIM:300326 SSX4 skos:exactMatch hgnc:SSX4 semapv:UnspecifiedMatching +OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:11338 semapv:UnspecifiedMatching +OMIM:300326 SSX4 skos:exactMatch hgnc.symbol:SSX4 semapv:UnspecifiedMatching OMIM:300326 SSX4 skos:exactMatch ncbigene:6759 semapv:UnspecifiedMatching -OMIM:300327 SSX5 skos:exactMatch hgnc:SSX5 semapv:UnspecifiedMatching +OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:11339 semapv:UnspecifiedMatching +OMIM:300327 SSX5 skos:exactMatch hgnc.symbol:SSX5 semapv:UnspecifiedMatching OMIM:300327 SSX5 skos:exactMatch ncbigene:6758 semapv:UnspecifiedMatching -OMIM:300328 KCNE1L skos:exactMatch hgnc:KCNE5 semapv:UnspecifiedMatching +OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:6241 semapv:UnspecifiedMatching +OMIM:300328 KCNE1L skos:exactMatch hgnc.symbol:KCNE5 semapv:UnspecifiedMatching OMIM:300328 KCNE1L skos:exactMatch ncbigene:23630 semapv:UnspecifiedMatching -OMIM:300329 ZBTB33 skos:exactMatch hgnc:ZBTB33 semapv:UnspecifiedMatching +OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:16682 semapv:UnspecifiedMatching +OMIM:300329 ZBTB33 skos:exactMatch hgnc.symbol:ZBTB33 semapv:UnspecifiedMatching OMIM:300329 ZBTB33 skos:exactMatch ncbigene:10009 semapv:UnspecifiedMatching -OMIM:300330 SPANXC skos:exactMatch hgnc:SPANXC semapv:UnspecifiedMatching +OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:14331 semapv:UnspecifiedMatching +OMIM:300330 SPANXC skos:exactMatch hgnc.symbol:SPANXC semapv:UnspecifiedMatching OMIM:300330 SPANXC skos:exactMatch ncbigene:64663 semapv:UnspecifiedMatching -OMIM:300332 ITGB1BP2 skos:exactMatch hgnc:ITGB1BP2 semapv:UnspecifiedMatching +OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:6154 semapv:UnspecifiedMatching +OMIM:300332 ITGB1BP2 skos:exactMatch hgnc.symbol:ITGB1BP2 semapv:UnspecifiedMatching OMIM:300332 ITGB1BP2 skos:exactMatch ncbigene:26548 semapv:UnspecifiedMatching -OMIM:300333 RAB33A skos:exactMatch hgnc:RAB33A semapv:UnspecifiedMatching +OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:9773 semapv:UnspecifiedMatching +OMIM:300333 RAB33A skos:exactMatch hgnc.symbol:RAB33A semapv:UnspecifiedMatching OMIM:300333 RAB33A skos:exactMatch ncbigene:9363 semapv:UnspecifiedMatching OMIM:300334 TRPC5 skos:exactMatch UMLS:C1421172 semapv:UnspecifiedMatching -OMIM:300334 TRPC5 skos:exactMatch hgnc:TRPC5 semapv:UnspecifiedMatching +OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:12337 semapv:UnspecifiedMatching +OMIM:300334 TRPC5 skos:exactMatch hgnc.symbol:TRPC5 semapv:UnspecifiedMatching OMIM:300334 TRPC5 skos:exactMatch ncbigene:7224 semapv:UnspecifiedMatching OMIM:300335 ACE2 skos:exactMatch UMLS:C1422064 semapv:UnspecifiedMatching -OMIM:300335 ACE2 skos:exactMatch hgnc:ACE2 semapv:UnspecifiedMatching +OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:13557 semapv:UnspecifiedMatching +OMIM:300335 ACE2 skos:exactMatch hgnc.symbol:ACE2 semapv:UnspecifiedMatching OMIM:300335 ACE2 skos:exactMatch ncbigene:59272 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch UMLS:C1422546 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch UMLS:C1845540 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch UMLS:C3151708 semapv:UnspecifiedMatching -OMIM:300336 NLGN3 skos:exactMatch hgnc:NLGN3 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:14289 semapv:UnspecifiedMatching +OMIM:300336 NLGN3 skos:exactMatch hgnc.symbol:NLGN3 semapv:UnspecifiedMatching OMIM:300336 NLGN3 skos:exactMatch ncbigene:54413 semapv:UnspecifiedMatching -OMIM:300338 CNGA2 skos:exactMatch hgnc:CNGA2 semapv:UnspecifiedMatching +OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:2149 semapv:UnspecifiedMatching +OMIM:300338 CNGA2 skos:exactMatch hgnc.symbol:CNGA2 semapv:UnspecifiedMatching OMIM:300338 CNGA2 skos:exactMatch ncbigene:1260 semapv:UnspecifiedMatching -OMIM:300339 PPP2R3B skos:exactMatch hgnc:PPP2R3B semapv:UnspecifiedMatching +OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:13417 semapv:UnspecifiedMatching +OMIM:300339 PPP2R3B skos:exactMatch hgnc.symbol:PPP2R3B semapv:UnspecifiedMatching OMIM:300339 PPP2R3B skos:exactMatch ncbigene:28227 semapv:UnspecifiedMatching -OMIM:300340 MAGEA5 skos:exactMatch hgnc:MAGEA5P semapv:UnspecifiedMatching +OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:6803 semapv:UnspecifiedMatching +OMIM:300340 MAGEA5 skos:exactMatch hgnc.symbol:MAGEA5P semapv:UnspecifiedMatching OMIM:300340 MAGEA5 skos:exactMatch ncbigene:4104 semapv:UnspecifiedMatching -OMIM:300341 MAGEA8 skos:exactMatch hgnc:MAGEA8 semapv:UnspecifiedMatching +OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:6806 semapv:UnspecifiedMatching +OMIM:300341 MAGEA8 skos:exactMatch hgnc.symbol:MAGEA8 semapv:UnspecifiedMatching OMIM:300341 MAGEA8 skos:exactMatch ncbigene:4107 semapv:UnspecifiedMatching -OMIM:300342 MAGEA9 skos:exactMatch hgnc:MAGEA9 semapv:UnspecifiedMatching +OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:6807 semapv:UnspecifiedMatching +OMIM:300342 MAGEA9 skos:exactMatch hgnc.symbol:MAGEA9 semapv:UnspecifiedMatching OMIM:300342 MAGEA9 skos:exactMatch ncbigene:4108 semapv:UnspecifiedMatching -OMIM:300343 MAGEA10 skos:exactMatch hgnc:MAGEA10 semapv:UnspecifiedMatching +OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:6797 semapv:UnspecifiedMatching +OMIM:300343 MAGEA10 skos:exactMatch hgnc.symbol:MAGEA10 semapv:UnspecifiedMatching OMIM:300343 MAGEA10 skos:exactMatch ncbigene:4109 semapv:UnspecifiedMatching -OMIM:300344 MAGEA11 skos:exactMatch hgnc:MAGEA11 semapv:UnspecifiedMatching +OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:6798 semapv:UnspecifiedMatching +OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:MAGEA11 semapv:UnspecifiedMatching OMIM:300344 MAGEA11 skos:exactMatch ncbigene:4110 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch UMLS:C1415794 semapv:UnspecifiedMatching -OMIM:300346 HTATSF1 skos:exactMatch hgnc:HTATSF1 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:5276 semapv:UnspecifiedMatching +OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:HTATSF1 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch ncbigene:27336 semapv:UnspecifiedMatching -OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc:DIAPH2-AS1 semapv:UnspecifiedMatching +OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:16972 semapv:UnspecifiedMatching +OMIM:300347 DIAPH2AS1 skos:exactMatch hgnc.symbol:DIAPH2-AS1 semapv:UnspecifiedMatching OMIM:300347 DIAPH2AS1 skos:exactMatch ncbigene:10824 semapv:UnspecifiedMatching -OMIM:300348 KLHL4 skos:exactMatch hgnc:KLHL4 semapv:UnspecifiedMatching +OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:6355 semapv:UnspecifiedMatching +OMIM:300348 KLHL4 skos:exactMatch hgnc.symbol:KLHL4 semapv:UnspecifiedMatching OMIM:300348 KLHL4 skos:exactMatch ncbigene:56062 semapv:UnspecifiedMatching -OMIM:300349 GABRQ skos:exactMatch hgnc:GABRQ semapv:UnspecifiedMatching +OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:14454 semapv:UnspecifiedMatching +OMIM:300349 GABRQ skos:exactMatch hgnc.symbol:GABRQ semapv:UnspecifiedMatching OMIM:300349 GABRQ skos:exactMatch ncbigene:55879 semapv:UnspecifiedMatching -OMIM:300350 CHRDL1 skos:exactMatch hgnc:CHRDL1 semapv:UnspecifiedMatching +OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:29861 semapv:UnspecifiedMatching +OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:CHRDL1 semapv:UnspecifiedMatching OMIM:300350 CHRDL1 skos:exactMatch ncbigene:91851 semapv:UnspecifiedMatching -OMIM:300353 VSIG4 skos:exactMatch hgnc:VSIG4 semapv:UnspecifiedMatching +OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:17032 semapv:UnspecifiedMatching +OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:VSIG4 semapv:UnspecifiedMatching OMIM:300353 VSIG4 skos:exactMatch ncbigene:11326 semapv:UnspecifiedMatching -OMIM:300356 TIMM8A skos:exactMatch hgnc:TIMM8A semapv:UnspecifiedMatching +OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:11817 semapv:UnspecifiedMatching +OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:TIMM8A semapv:UnspecifiedMatching OMIM:300356 TIMM8A skos:exactMatch ncbigene:1678 semapv:UnspecifiedMatching -OMIM:300357 CRLF2 skos:exactMatch hgnc:CRLF2 semapv:UnspecifiedMatching +OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:14281 semapv:UnspecifiedMatching +OMIM:300357 CRLF2 skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching OMIM:300357 CRLF2 skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching -OMIM:300358 WNK3 skos:exactMatch hgnc:WNK3 semapv:UnspecifiedMatching +OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:14543 semapv:UnspecifiedMatching +OMIM:300358 WNK3 skos:exactMatch hgnc.symbol:WNK3 semapv:UnspecifiedMatching OMIM:300358 WNK3 skos:exactMatch ncbigene:65267 semapv:UnspecifiedMatching -OMIM:300359 SAGE1 skos:exactMatch hgnc:SAGE1 semapv:UnspecifiedMatching +OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:30369 semapv:UnspecifiedMatching +OMIM:300359 SAGE1 skos:exactMatch hgnc.symbol:SAGE1 semapv:UnspecifiedMatching OMIM:300359 SAGE1 skos:exactMatch ncbigene:55511 semapv:UnspecifiedMatching -OMIM:300361 NGFRAP1 skos:exactMatch hgnc:BEX3 semapv:UnspecifiedMatching +OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:13388 semapv:UnspecifiedMatching +OMIM:300361 NGFRAP1 skos:exactMatch hgnc.symbol:BEX3 semapv:UnspecifiedMatching OMIM:300361 NGFRAP1 skos:exactMatch ncbigene:27018 semapv:UnspecifiedMatching OMIM:300362 ARMCX1 skos:exactMatch UMLS:C1538939 semapv:UnspecifiedMatching -OMIM:300362 ARMCX1 skos:exactMatch hgnc:ARMCX1 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:18073 semapv:UnspecifiedMatching +OMIM:300362 ARMCX1 skos:exactMatch hgnc.symbol:ARMCX1 semapv:UnspecifiedMatching OMIM:300362 ARMCX1 skos:exactMatch ncbigene:51309 semapv:UnspecifiedMatching OMIM:300363 ARMCX2 skos:exactMatch UMLS:C1538940 semapv:UnspecifiedMatching -OMIM:300363 ARMCX2 skos:exactMatch hgnc:ARMCX2 semapv:UnspecifiedMatching +OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:16869 semapv:UnspecifiedMatching +OMIM:300363 ARMCX2 skos:exactMatch hgnc.symbol:ARMCX2 semapv:UnspecifiedMatching OMIM:300363 ARMCX2 skos:exactMatch ncbigene:9823 semapv:UnspecifiedMatching OMIM:300364 ARMCX3 skos:exactMatch UMLS:C1538941 semapv:UnspecifiedMatching -OMIM:300364 ARMCX3 skos:exactMatch hgnc:ARMCX3 semapv:UnspecifiedMatching +OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:24065 semapv:UnspecifiedMatching +OMIM:300364 ARMCX3 skos:exactMatch hgnc.symbol:ARMCX3 semapv:UnspecifiedMatching OMIM:300364 ARMCX3 skos:exactMatch ncbigene:51566 semapv:UnspecifiedMatching OMIM:300365 TLR7 skos:exactMatch UMLS:C1336639 semapv:UnspecifiedMatching OMIM:300365 TLR7 skos:exactMatch UMLS:C5436946 semapv:UnspecifiedMatching -OMIM:300365 TLR7 skos:exactMatch hgnc:TLR7 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:15631 semapv:UnspecifiedMatching +OMIM:300365 TLR7 skos:exactMatch hgnc.symbol:TLR7 semapv:UnspecifiedMatching OMIM:300365 TLR7 skos:exactMatch ncbigene:51284 semapv:UnspecifiedMatching -OMIM:300366 TLR8 skos:exactMatch hgnc:TLR8 semapv:UnspecifiedMatching +OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:15632 semapv:UnspecifiedMatching +OMIM:300366 TLR8 skos:exactMatch hgnc.symbol:TLR8 semapv:UnspecifiedMatching OMIM:300366 TLR8 skos:exactMatch ncbigene:51311 semapv:UnspecifiedMatching -OMIM:300368 SLC9A7 skos:exactMatch hgnc:SLC9A7 semapv:UnspecifiedMatching +OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:17123 semapv:UnspecifiedMatching +OMIM:300368 SLC9A7 skos:exactMatch hgnc.symbol:SLC9A7 semapv:UnspecifiedMatching OMIM:300368 SLC9A7 skos:exactMatch ncbigene:84679 semapv:UnspecifiedMatching -OMIM:300369 GCNA skos:exactMatch hgnc:GCNA semapv:UnspecifiedMatching +OMIM:300369 GCNA skos:exactMatch hgnc.symbol:15805 semapv:UnspecifiedMatching +OMIM:300369 GCNA skos:exactMatch hgnc.symbol:GCNA semapv:UnspecifiedMatching OMIM:300369 GCNA skos:exactMatch ncbigene:93953 semapv:UnspecifiedMatching -OMIM:300370 TREX2 skos:exactMatch hgnc:TREX2 semapv:UnspecifiedMatching +OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:12270 semapv:UnspecifiedMatching +OMIM:300370 TREX2 skos:exactMatch hgnc.symbol:TREX2 semapv:UnspecifiedMatching OMIM:300370 TREX2 skos:exactMatch ncbigene:11219 semapv:UnspecifiedMatching -OMIM:300371 ABCD1 skos:exactMatch hgnc:ABCD1 semapv:UnspecifiedMatching +OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:61 semapv:UnspecifiedMatching +OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:ABCD1 semapv:UnspecifiedMatching OMIM:300371 ABCD1 skos:exactMatch ncbigene:215 semapv:UnspecifiedMatching +OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching -OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch orphanet.ordo:2780 semapv:UnspecifiedMatching -OMIM:300374 SH3KBP1 skos:exactMatch hgnc:SH3KBP1 semapv:UnspecifiedMatching +OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:13867 semapv:UnspecifiedMatching +OMIM:300374 SH3KBP1 skos:exactMatch hgnc.symbol:SH3KBP1 semapv:UnspecifiedMatching OMIM:300374 SH3KBP1 skos:exactMatch ncbigene:30011 semapv:UnspecifiedMatching -OMIM:300375 CHST7 skos:exactMatch hgnc:CHST7 semapv:UnspecifiedMatching +OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:13817 semapv:UnspecifiedMatching +OMIM:300375 CHST7 skos:exactMatch hgnc.symbol:CHST7 semapv:UnspecifiedMatching OMIM:300375 CHST7 skos:exactMatch ncbigene:56548 semapv:UnspecifiedMatching -OMIM:300377 DMD skos:exactMatch hgnc:DMD semapv:UnspecifiedMatching +OMIM:300377 DMD skos:exactMatch hgnc.symbol:2928 semapv:UnspecifiedMatching +OMIM:300377 DMD skos:exactMatch hgnc.symbol:DMD semapv:UnspecifiedMatching OMIM:300377 DMD skos:exactMatch ncbigene:1756 semapv:UnspecifiedMatching -OMIM:300379 RLIM skos:exactMatch hgnc:RLIM semapv:UnspecifiedMatching +OMIM:300379 RLIM skos:exactMatch hgnc.symbol:13429 semapv:UnspecifiedMatching +OMIM:300379 RLIM skos:exactMatch hgnc.symbol:RLIM semapv:UnspecifiedMatching OMIM:300379 RLIM skos:exactMatch ncbigene:51132 semapv:UnspecifiedMatching -OMIM:300380 CTPS2 skos:exactMatch hgnc:CTPS2 semapv:UnspecifiedMatching +OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:2520 semapv:UnspecifiedMatching +OMIM:300380 CTPS2 skos:exactMatch hgnc.symbol:CTPS2 semapv:UnspecifiedMatching OMIM:300380 CTPS2 skos:exactMatch ncbigene:56474 semapv:UnspecifiedMatching -OMIM:300381 ZNF185 skos:exactMatch hgnc:ZNF185 semapv:UnspecifiedMatching +OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:12976 semapv:UnspecifiedMatching +OMIM:300381 ZNF185 skos:exactMatch hgnc.symbol:ZNF185 semapv:UnspecifiedMatching OMIM:300381 ZNF185 skos:exactMatch ncbigene:7739 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C0796124 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching @@ -7925,34 +10515,48 @@ OMIM:300382 ARX skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C1846172 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:300382 ARX skos:exactMatch hgnc:ARX semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch hgnc.symbol:18060 semapv:UnspecifiedMatching +OMIM:300382 ARX skos:exactMatch hgnc.symbol:ARX semapv:UnspecifiedMatching OMIM:300382 ARX skos:exactMatch ncbigene:170302 semapv:UnspecifiedMatching -OMIM:300383 CFP skos:exactMatch hgnc:CFP semapv:UnspecifiedMatching +OMIM:300383 CFP skos:exactMatch hgnc.symbol:8864 semapv:UnspecifiedMatching +OMIM:300383 CFP skos:exactMatch hgnc.symbol:CFP semapv:UnspecifiedMatching OMIM:300383 CFP skos:exactMatch ncbigene:5199 semapv:UnspecifiedMatching -OMIM:300384 EMD skos:exactMatch hgnc:EMD semapv:UnspecifiedMatching +OMIM:300384 EMD skos:exactMatch hgnc.symbol:3331 semapv:UnspecifiedMatching +OMIM:300384 EMD skos:exactMatch hgnc.symbol:EMD semapv:UnspecifiedMatching OMIM:300384 EMD skos:exactMatch ncbigene:2010 semapv:UnspecifiedMatching -OMIM:300385 NSBP1 skos:exactMatch hgnc:HMGN5 semapv:UnspecifiedMatching +OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:8013 semapv:UnspecifiedMatching +OMIM:300385 NSBP1 skos:exactMatch hgnc.symbol:HMGN5 semapv:UnspecifiedMatching OMIM:300385 NSBP1 skos:exactMatch ncbigene:79366 semapv:UnspecifiedMatching -OMIM:300386 CD40LG skos:exactMatch hgnc:CD40LG semapv:UnspecifiedMatching +OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:11935 semapv:UnspecifiedMatching +OMIM:300386 CD40LG skos:exactMatch hgnc.symbol:CD40LG semapv:UnspecifiedMatching OMIM:300386 CD40LG skos:exactMatch ncbigene:959 semapv:UnspecifiedMatching -OMIM:300390 CHM skos:exactMatch hgnc:CHM semapv:UnspecifiedMatching +OMIM:300390 CHM skos:exactMatch hgnc.symbol:1940 semapv:UnspecifiedMatching +OMIM:300390 CHM skos:exactMatch hgnc.symbol:CHM semapv:UnspecifiedMatching OMIM:300390 CHM skos:exactMatch ncbigene:1121 semapv:UnspecifiedMatching -OMIM:300391 AMELX skos:exactMatch hgnc:AMELX semapv:UnspecifiedMatching +OMIM:300391 AMELX skos:exactMatch hgnc.symbol:461 semapv:UnspecifiedMatching +OMIM:300391 AMELX skos:exactMatch hgnc.symbol:AMELX semapv:UnspecifiedMatching OMIM:300391 AMELX skos:exactMatch ncbigene:265 semapv:UnspecifiedMatching -OMIM:300392 WAS skos:exactMatch hgnc:WAS semapv:UnspecifiedMatching +OMIM:300392 WAS skos:exactMatch hgnc.symbol:12731 semapv:UnspecifiedMatching +OMIM:300392 WAS skos:exactMatch hgnc.symbol:WAS semapv:UnspecifiedMatching OMIM:300392 WAS skos:exactMatch ncbigene:7454 semapv:UnspecifiedMatching -OMIM:300393 GPR101 skos:exactMatch hgnc:GPR101 semapv:UnspecifiedMatching +OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:14963 semapv:UnspecifiedMatching +OMIM:300393 GPR101 skos:exactMatch hgnc.symbol:GPR101 semapv:UnspecifiedMatching OMIM:300393 GPR101 skos:exactMatch ncbigene:83550 semapv:UnspecifiedMatching -OMIM:300394 TAFAZZIN skos:exactMatch hgnc:TAFAZZIN semapv:UnspecifiedMatching +OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:11577 semapv:UnspecifiedMatching +OMIM:300394 TAFAZZIN skos:exactMatch hgnc.symbol:TAFAZZIN semapv:UnspecifiedMatching OMIM:300394 TAFAZZIN skos:exactMatch ncbigene:6901 semapv:UnspecifiedMatching -OMIM:300395 THOC2 skos:exactMatch hgnc:THOC2 semapv:UnspecifiedMatching +OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:19073 semapv:UnspecifiedMatching +OMIM:300395 THOC2 skos:exactMatch hgnc.symbol:THOC2 semapv:UnspecifiedMatching OMIM:300395 THOC2 skos:exactMatch ncbigene:57187 semapv:UnspecifiedMatching -OMIM:300396 CTAG2 skos:exactMatch hgnc:CTAG2 semapv:UnspecifiedMatching +OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:2492 semapv:UnspecifiedMatching +OMIM:300396 CTAG2 skos:exactMatch hgnc.symbol:CTAG2 semapv:UnspecifiedMatching OMIM:300396 CTAG2 skos:exactMatch ncbigene:30848 semapv:UnspecifiedMatching -OMIM:300398 BCAP31 skos:exactMatch hgnc:BCAP31 semapv:UnspecifiedMatching +OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:16695 semapv:UnspecifiedMatching +OMIM:300398 BCAP31 skos:exactMatch hgnc.symbol:BCAP31 semapv:UnspecifiedMatching OMIM:300398 BCAP31 skos:exactMatch ncbigene:10134 semapv:UnspecifiedMatching OMIM:300399 PCSK1N skos:exactMatch UMLS:C1424886 semapv:UnspecifiedMatching -OMIM:300399 PCSK1N skos:exactMatch hgnc:PCSK1N semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:17301 semapv:UnspecifiedMatching +OMIM:300399 PCSK1N skos:exactMatch hgnc.symbol:PCSK1N semapv:UnspecifiedMatching OMIM:300399 PCSK1N skos:exactMatch ncbigene:27344 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C0751604 semapv:UnspecifiedMatching @@ -7961,519 +10565,734 @@ OMIM:300401 PLP1 skos:exactMatch UMLS:C1418654 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C4016483 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch UMLS:C4016484 semapv:UnspecifiedMatching -OMIM:300401 PLP1 skos:exactMatch hgnc:PLP1 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:9086 semapv:UnspecifiedMatching +OMIM:300401 PLP1 skos:exactMatch hgnc.symbol:PLP1 semapv:UnspecifiedMatching OMIM:300401 PLP1 skos:exactMatch ncbigene:5354 semapv:UnspecifiedMatching -OMIM:300402 LDOC1 skos:exactMatch hgnc:LDOC1 semapv:UnspecifiedMatching +OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:6548 semapv:UnspecifiedMatching +OMIM:300402 LDOC1 skos:exactMatch hgnc.symbol:LDOC1 semapv:UnspecifiedMatching OMIM:300402 LDOC1 skos:exactMatch ncbigene:23641 semapv:UnspecifiedMatching -OMIM:300403 NDUFB11 skos:exactMatch hgnc:NDUFB11 semapv:UnspecifiedMatching +OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:20372 semapv:UnspecifiedMatching +OMIM:300403 NDUFB11 skos:exactMatch hgnc.symbol:NDUFB11 semapv:UnspecifiedMatching OMIM:300403 NDUFB11 skos:exactMatch ncbigene:54539 semapv:UnspecifiedMatching -OMIM:300405 RAB40AL skos:exactMatch hgnc:RAB40AL semapv:UnspecifiedMatching +OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:25410 semapv:UnspecifiedMatching +OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:RAB40AL semapv:UnspecifiedMatching OMIM:300405 RAB40AL skos:exactMatch ncbigene:282808 semapv:UnspecifiedMatching -OMIM:300407 PABPC5 skos:exactMatch hgnc:PABPC5 semapv:UnspecifiedMatching +OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:13629 semapv:UnspecifiedMatching +OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:PABPC5 semapv:UnspecifiedMatching OMIM:300407 PABPC5 skos:exactMatch ncbigene:140886 semapv:UnspecifiedMatching -OMIM:300408 GRIPAP1 skos:exactMatch hgnc:GRIPAP1 semapv:UnspecifiedMatching +OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:18706 semapv:UnspecifiedMatching +OMIM:300408 GRIPAP1 skos:exactMatch hgnc.symbol:GRIPAP1 semapv:UnspecifiedMatching OMIM:300408 GRIPAP1 skos:exactMatch ncbigene:56850 semapv:UnspecifiedMatching -OMIM:300409 MORF4L2 skos:exactMatch hgnc:MORF4L2 semapv:UnspecifiedMatching +OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:16849 semapv:UnspecifiedMatching +OMIM:300409 MORF4L2 skos:exactMatch hgnc.symbol:MORF4L2 semapv:UnspecifiedMatching OMIM:300409 MORF4L2 skos:exactMatch ncbigene:9643 semapv:UnspecifiedMatching -OMIM:300410 AMOT skos:exactMatch hgnc:AMOT semapv:UnspecifiedMatching +OMIM:300410 AMOT skos:exactMatch hgnc.symbol:17810 semapv:UnspecifiedMatching +OMIM:300410 AMOT skos:exactMatch hgnc.symbol:AMOT semapv:UnspecifiedMatching OMIM:300410 AMOT skos:exactMatch ncbigene:154796 semapv:UnspecifiedMatching -OMIM:300411 TGIF2LX skos:exactMatch hgnc:TGIF2LX semapv:UnspecifiedMatching +OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:18570 semapv:UnspecifiedMatching +OMIM:300411 TGIF2LX skos:exactMatch hgnc.symbol:TGIF2LX semapv:UnspecifiedMatching OMIM:300411 TGIF2LX skos:exactMatch ncbigene:90316 semapv:UnspecifiedMatching -OMIM:300413 MBNL3 skos:exactMatch hgnc:MBNL3 semapv:UnspecifiedMatching +OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:20564 semapv:UnspecifiedMatching +OMIM:300413 MBNL3 skos:exactMatch hgnc.symbol:MBNL3 semapv:UnspecifiedMatching OMIM:300413 MBNL3 skos:exactMatch ncbigene:55796 semapv:UnspecifiedMatching -OMIM:300414 PHF6 skos:exactMatch hgnc:PHF6 semapv:UnspecifiedMatching +OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:18145 semapv:UnspecifiedMatching +OMIM:300414 PHF6 skos:exactMatch hgnc.symbol:PHF6 semapv:UnspecifiedMatching OMIM:300414 PHF6 skos:exactMatch ncbigene:84295 semapv:UnspecifiedMatching -OMIM:300415 MTM1 skos:exactMatch hgnc:MTM1 semapv:UnspecifiedMatching +OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:7448 semapv:UnspecifiedMatching +OMIM:300415 MTM1 skos:exactMatch hgnc.symbol:MTM1 semapv:UnspecifiedMatching OMIM:300415 MTM1 skos:exactMatch ncbigene:4534 semapv:UnspecifiedMatching -OMIM:300416 XAGE2 skos:exactMatch hgnc:XAGE2 semapv:UnspecifiedMatching +OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:4112 semapv:UnspecifiedMatching +OMIM:300416 XAGE2 skos:exactMatch hgnc.symbol:XAGE2 semapv:UnspecifiedMatching OMIM:300416 XAGE2 skos:exactMatch ncbigene:9502 semapv:UnspecifiedMatching -OMIM:300417 GPRASP1 skos:exactMatch hgnc:GPRASP1 semapv:UnspecifiedMatching +OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:24834 semapv:UnspecifiedMatching +OMIM:300417 GPRASP1 skos:exactMatch hgnc.symbol:GPRASP1 semapv:UnspecifiedMatching OMIM:300417 GPRASP1 skos:exactMatch ncbigene:9737 semapv:UnspecifiedMatching -OMIM:300418 GSPT2 skos:exactMatch hgnc:GSPT2 semapv:UnspecifiedMatching +OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:4622 semapv:UnspecifiedMatching +OMIM:300418 GSPT2 skos:exactMatch hgnc.symbol:GSPT2 semapv:UnspecifiedMatching OMIM:300418 GSPT2 skos:exactMatch ncbigene:23708 semapv:UnspecifiedMatching +OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch UMLS:C0796244 semapv:UnspecifiedMatching -OMIM:300419 intellectual developmental disorder, X-linked 29 skos:exactMatch orphanet.ordo:777 semapv:UnspecifiedMatching -OMIM:300420 PJA1 skos:exactMatch hgnc:PJA1 semapv:UnspecifiedMatching +OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:16648 semapv:UnspecifiedMatching +OMIM:300420 PJA1 skos:exactMatch hgnc.symbol:PJA1 semapv:UnspecifiedMatching OMIM:300420 PJA1 skos:exactMatch ncbigene:64219 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching +OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch Orphanet:93952 semapv:UnspecifiedMatching OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching -OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch orphanet.ordo:2076 semapv:UnspecifiedMatching -OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia skos:exactMatch orphanet.ordo:93952 semapv:UnspecifiedMatching +OMIM:300424 retinitis pigmentosa 23 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:300424 retinitis pigmentosa 23 skos:exactMatch UMLS:C1419610 semapv:UnspecifiedMatching -OMIM:300424 retinitis pigmentosa 23 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching OMIM:300427 NLGN4X skos:exactMatch UMLS:C1136249 semapv:UnspecifiedMatching OMIM:300427 NLGN4X skos:exactMatch UMLS:C1538067 semapv:UnspecifiedMatching OMIM:300427 NLGN4X skos:exactMatch UMLS:C1845539 semapv:UnspecifiedMatching OMIM:300427 NLGN4X skos:exactMatch UMLS:C3151722 semapv:UnspecifiedMatching -OMIM:300427 NLGN4X skos:exactMatch hgnc:NLGN4X semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:14287 semapv:UnspecifiedMatching +OMIM:300427 NLGN4X skos:exactMatch hgnc.symbol:NLGN4X semapv:UnspecifiedMatching OMIM:300427 NLGN4X skos:exactMatch ncbigene:57502 semapv:UnspecifiedMatching OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1422758 semapv:UnspecifiedMatching OMIM:300429 ARHGEF9 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching -OMIM:300429 ARHGEF9 skos:exactMatch hgnc:ARHGEF9 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:14561 semapv:UnspecifiedMatching +OMIM:300429 ARHGEF9 skos:exactMatch hgnc.symbol:ARHGEF9 semapv:UnspecifiedMatching OMIM:300429 ARHGEF9 skos:exactMatch ncbigene:23229 semapv:UnspecifiedMatching +OMIM:300431 atkin-flaitz syndrome skos:exactMatch Orphanet:1193 semapv:UnspecifiedMatching OMIM:300431 atkin-flaitz syndrome skos:exactMatch UMLS:C0796206 semapv:UnspecifiedMatching -OMIM:300431 atkin-flaitz syndrome skos:exactMatch orphanet.ordo:1193 semapv:UnspecifiedMatching -OMIM:300435 PGRMC1 skos:exactMatch hgnc:PGRMC1 semapv:UnspecifiedMatching +OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:16090 semapv:UnspecifiedMatching +OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:PGRMC1 semapv:UnspecifiedMatching OMIM:300435 PGRMC1 skos:exactMatch ncbigene:10857 semapv:UnspecifiedMatching -OMIM:300437 ERAS skos:exactMatch hgnc:ERAS semapv:UnspecifiedMatching +OMIM:300437 ERAS skos:exactMatch hgnc.symbol:5174 semapv:UnspecifiedMatching +OMIM:300437 ERAS skos:exactMatch hgnc.symbol:ERAS semapv:UnspecifiedMatching OMIM:300437 ERAS skos:exactMatch ncbigene:3266 semapv:UnspecifiedMatching -OMIM:300439 RNF128 skos:exactMatch hgnc:RNF128 semapv:UnspecifiedMatching +OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:21153 semapv:UnspecifiedMatching +OMIM:300439 RNF128 skos:exactMatch hgnc.symbol:RNF128 semapv:UnspecifiedMatching OMIM:300439 RNF128 skos:exactMatch ncbigene:79589 semapv:UnspecifiedMatching -OMIM:300440 NKRF skos:exactMatch hgnc:NKRF semapv:UnspecifiedMatching +OMIM:300440 NKRF skos:exactMatch hgnc.symbol:19374 semapv:UnspecifiedMatching +OMIM:300440 NKRF skos:exactMatch hgnc.symbol:NKRF semapv:UnspecifiedMatching OMIM:300440 NKRF skos:exactMatch ncbigene:55922 semapv:UnspecifiedMatching -OMIM:300441 SASH3 skos:exactMatch hgnc:SASH3 semapv:UnspecifiedMatching +OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:15975 semapv:UnspecifiedMatching +OMIM:300441 SASH3 skos:exactMatch hgnc.symbol:SASH3 semapv:UnspecifiedMatching OMIM:300441 SASH3 skos:exactMatch ncbigene:54440 semapv:UnspecifiedMatching -OMIM:300443 SLC7A3 skos:exactMatch hgnc:SLC7A3 semapv:UnspecifiedMatching +OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:11061 semapv:UnspecifiedMatching +OMIM:300443 SLC7A3 skos:exactMatch hgnc.symbol:SLC7A3 semapv:UnspecifiedMatching OMIM:300443 SLC7A3 skos:exactMatch ncbigene:84889 semapv:UnspecifiedMatching -OMIM:300444 SLC6A14 skos:exactMatch hgnc:SLC6A14 semapv:UnspecifiedMatching +OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:11047 semapv:UnspecifiedMatching +OMIM:300444 SLC6A14 skos:exactMatch hgnc.symbol:SLC6A14 semapv:UnspecifiedMatching OMIM:300444 SLC6A14 skos:exactMatch ncbigene:11254 semapv:UnspecifiedMatching -OMIM:300445 H2AB3 skos:exactMatch hgnc:H2AB3 semapv:UnspecifiedMatching +OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:14455 semapv:UnspecifiedMatching +OMIM:300445 H2AB3 skos:exactMatch hgnc.symbol:H2AB3 semapv:UnspecifiedMatching OMIM:300445 H2AB3 skos:exactMatch ncbigene:83740 semapv:UnspecifiedMatching OMIM:300446 RHOXF1 skos:exactMatch UMLS:C1845515 semapv:UnspecifiedMatching -OMIM:300446 RHOXF1 skos:exactMatch hgnc:RHOXF1 semapv:UnspecifiedMatching +OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:29993 semapv:UnspecifiedMatching +OMIM:300446 RHOXF1 skos:exactMatch hgnc.symbol:RHOXF1 semapv:UnspecifiedMatching OMIM:300446 RHOXF1 skos:exactMatch ncbigene:158800 semapv:UnspecifiedMatching OMIM:300447 RHOXF2 skos:exactMatch UMLS:C1845514 semapv:UnspecifiedMatching -OMIM:300447 RHOXF2 skos:exactMatch hgnc:RHOXF2 semapv:UnspecifiedMatching +OMIM:300447 RHOXF2 skos:exactMatch hgnc.symbol:30011 semapv:UnspecifiedMatching +OMIM:300447 RHOXF2 skos:exactMatch hgnc.symbol:RHOXF2 semapv:UnspecifiedMatching OMIM:300447 RHOXF2 skos:exactMatch ncbigene:84528 semapv:UnspecifiedMatching -OMIM:300450 FATE1 skos:exactMatch hgnc:FATE1 semapv:UnspecifiedMatching +OMIM:300450 FATE1 skos:exactMatch hgnc.symbol:24683 semapv:UnspecifiedMatching +OMIM:300450 FATE1 skos:exactMatch hgnc.symbol:FATE1 semapv:UnspecifiedMatching OMIM:300450 FATE1 skos:exactMatch ncbigene:89885 semapv:UnspecifiedMatching -OMIM:300451 EDA skos:exactMatch hgnc:EDA semapv:UnspecifiedMatching +OMIM:300451 EDA skos:exactMatch hgnc.symbol:3157 semapv:UnspecifiedMatching +OMIM:300451 EDA skos:exactMatch hgnc.symbol:EDA semapv:UnspecifiedMatching OMIM:300451 EDA skos:exactMatch ncbigene:1896 semapv:UnspecifiedMatching -OMIM:300452 INGX skos:exactMatch hgnc:INGX semapv:UnspecifiedMatching +OMIM:300452 INGX skos:exactMatch hgnc.symbol:6064 semapv:UnspecifiedMatching +OMIM:300452 INGX skos:exactMatch hgnc.symbol:INGX semapv:UnspecifiedMatching OMIM:300452 INGX skos:exactMatch ncbigene:27160 semapv:UnspecifiedMatching OMIM:300453 FAM50A skos:exactMatch UMLS:C1539454 semapv:UnspecifiedMatching OMIM:300453 FAM50A skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching -OMIM:300453 FAM50A skos:exactMatch hgnc:FAM50A semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:18786 semapv:UnspecifiedMatching +OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:FAM50A semapv:UnspecifiedMatching OMIM:300453 FAM50A skos:exactMatch ncbigene:9130 semapv:UnspecifiedMatching -OMIM:300456 CCNB3 skos:exactMatch hgnc:CCNB3 semapv:UnspecifiedMatching +OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:18709 semapv:UnspecifiedMatching +OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:CCNB3 semapv:UnspecifiedMatching OMIM:300456 CCNB3 skos:exactMatch ncbigene:85417 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch UMLS:C1417725 semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch UMLS:C4049004 semapv:UnspecifiedMatching -OMIM:300457 NHS skos:exactMatch hgnc:NHS semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch hgnc.symbol:7820 semapv:UnspecifiedMatching +OMIM:300457 NHS skos:exactMatch hgnc.symbol:NHS semapv:UnspecifiedMatching OMIM:300457 NHS skos:exactMatch ncbigene:4810 semapv:UnspecifiedMatching -OMIM:300459 TNMD skos:exactMatch hgnc:TNMD semapv:UnspecifiedMatching +OMIM:300459 TNMD skos:exactMatch hgnc.symbol:17757 semapv:UnspecifiedMatching +OMIM:300459 TNMD skos:exactMatch hgnc.symbol:TNMD semapv:UnspecifiedMatching OMIM:300459 TNMD skos:exactMatch ncbigene:64102 semapv:UnspecifiedMatching OMIM:300460 PCDH19 skos:exactMatch UMLS:C1422530 semapv:UnspecifiedMatching OMIM:300460 PCDH19 skos:exactMatch UMLS:C1848137 semapv:UnspecifiedMatching -OMIM:300460 PCDH19 skos:exactMatch hgnc:PCDH19 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:14270 semapv:UnspecifiedMatching +OMIM:300460 PCDH19 skos:exactMatch hgnc.symbol:PCDH19 semapv:UnspecifiedMatching OMIM:300460 PCDH19 skos:exactMatch ncbigene:57526 semapv:UnspecifiedMatching -OMIM:300461 OTC skos:exactMatch hgnc:OTC semapv:UnspecifiedMatching +OMIM:300461 OTC skos:exactMatch hgnc.symbol:8512 semapv:UnspecifiedMatching +OMIM:300461 OTC skos:exactMatch hgnc.symbol:OTC semapv:UnspecifiedMatching OMIM:300461 OTC skos:exactMatch ncbigene:5009 semapv:UnspecifiedMatching -OMIM:300462 AKAP14 skos:exactMatch hgnc:AKAP14 semapv:UnspecifiedMatching +OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:24061 semapv:UnspecifiedMatching +OMIM:300462 AKAP14 skos:exactMatch hgnc.symbol:AKAP14 semapv:UnspecifiedMatching OMIM:300462 AKAP14 skos:exactMatch ncbigene:158798 semapv:UnspecifiedMatching -OMIM:300463 PQBP1 skos:exactMatch hgnc:PQBP1 semapv:UnspecifiedMatching +OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:9330 semapv:UnspecifiedMatching +OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:PQBP1 semapv:UnspecifiedMatching OMIM:300463 PQBP1 skos:exactMatch ncbigene:10084 semapv:UnspecifiedMatching -OMIM:300466 MAGEB5 skos:exactMatch hgnc:MAGEB5 semapv:UnspecifiedMatching +OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:23795 semapv:UnspecifiedMatching +OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:MAGEB5 semapv:UnspecifiedMatching OMIM:300466 MAGEB5 skos:exactMatch ncbigene:347541 semapv:UnspecifiedMatching -OMIM:300467 MAGEB6 skos:exactMatch hgnc:MAGEB6 semapv:UnspecifiedMatching +OMIM:300467 MAGEB6 skos:exactMatch hgnc.symbol:23796 semapv:UnspecifiedMatching +OMIM:300467 MAGEB6 skos:exactMatch hgnc.symbol:MAGEB6 semapv:UnspecifiedMatching OMIM:300467 MAGEB6 skos:exactMatch ncbigene:158809 semapv:UnspecifiedMatching -OMIM:300468 MAGEC2 skos:exactMatch hgnc:MAGEC2 semapv:UnspecifiedMatching +OMIM:300468 MAGEC2 skos:exactMatch hgnc.symbol:13574 semapv:UnspecifiedMatching +OMIM:300468 MAGEC2 skos:exactMatch hgnc.symbol:MAGEC2 semapv:UnspecifiedMatching OMIM:300468 MAGEC2 skos:exactMatch ncbigene:51438 semapv:UnspecifiedMatching -OMIM:300469 MAGEC3 skos:exactMatch hgnc:MAGEC3 semapv:UnspecifiedMatching +OMIM:300469 MAGEC3 skos:exactMatch hgnc.symbol:23798 semapv:UnspecifiedMatching +OMIM:300469 MAGEC3 skos:exactMatch hgnc.symbol:MAGEC3 semapv:UnspecifiedMatching OMIM:300469 MAGEC3 skos:exactMatch ncbigene:139081 semapv:UnspecifiedMatching -OMIM:300470 MAGED2 skos:exactMatch hgnc:MAGED2 semapv:UnspecifiedMatching +OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:16353 semapv:UnspecifiedMatching +OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:MAGED2 semapv:UnspecifiedMatching OMIM:300470 MAGED2 skos:exactMatch ncbigene:10916 semapv:UnspecifiedMatching -OMIM:300473 NR0B1 skos:exactMatch hgnc:NR0B1 semapv:UnspecifiedMatching +OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:7960 semapv:UnspecifiedMatching +OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:NR0B1 semapv:UnspecifiedMatching OMIM:300473 NR0B1 skos:exactMatch ncbigene:190 semapv:UnspecifiedMatching -OMIM:300474 GK skos:exactMatch hgnc:GK semapv:UnspecifiedMatching +OMIM:300474 GK skos:exactMatch hgnc.symbol:4289 semapv:UnspecifiedMatching +OMIM:300474 GK skos:exactMatch hgnc.symbol:GK semapv:UnspecifiedMatching OMIM:300474 GK skos:exactMatch ncbigene:2710 semapv:UnspecifiedMatching -OMIM:300477 FAM9A skos:exactMatch hgnc:FAM9A semapv:UnspecifiedMatching +OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:18403 semapv:UnspecifiedMatching +OMIM:300477 FAM9A skos:exactMatch hgnc.symbol:FAM9A semapv:UnspecifiedMatching OMIM:300477 FAM9A skos:exactMatch ncbigene:171482 semapv:UnspecifiedMatching -OMIM:300478 FAM9B skos:exactMatch hgnc:FAM9B semapv:UnspecifiedMatching +OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:18404 semapv:UnspecifiedMatching +OMIM:300478 FAM9B skos:exactMatch hgnc.symbol:FAM9B semapv:UnspecifiedMatching OMIM:300478 FAM9B skos:exactMatch ncbigene:171483 semapv:UnspecifiedMatching -OMIM:300479 FAM9C skos:exactMatch hgnc:FAM9C semapv:UnspecifiedMatching +OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:18405 semapv:UnspecifiedMatching +OMIM:300479 FAM9C skos:exactMatch hgnc.symbol:FAM9C semapv:UnspecifiedMatching OMIM:300479 FAM9C skos:exactMatch ncbigene:171484 semapv:UnspecifiedMatching -OMIM:300480 TAB3 skos:exactMatch hgnc:TAB3 semapv:UnspecifiedMatching +OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:30681 semapv:UnspecifiedMatching +OMIM:300480 TAB3 skos:exactMatch hgnc.symbol:TAB3 semapv:UnspecifiedMatching OMIM:300480 TAB3 skos:exactMatch ncbigene:257397 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C1413844 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C1970859 semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch UMLS:C4016486 semapv:UnspecifiedMatching -OMIM:300481 CYBB skos:exactMatch hgnc:CYBB semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch hgnc.symbol:2578 semapv:UnspecifiedMatching +OMIM:300481 CYBB skos:exactMatch hgnc.symbol:CYBB semapv:UnspecifiedMatching OMIM:300481 CYBB skos:exactMatch ncbigene:1536 semapv:UnspecifiedMatching -OMIM:300482 GAB3 skos:exactMatch hgnc:GAB3 semapv:UnspecifiedMatching +OMIM:300482 GAB3 skos:exactMatch hgnc.symbol:17515 semapv:UnspecifiedMatching +OMIM:300482 GAB3 skos:exactMatch hgnc.symbol:GAB3 semapv:UnspecifiedMatching OMIM:300482 GAB3 skos:exactMatch ncbigene:139716 semapv:UnspecifiedMatching +OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch Orphanet:2755 semapv:UnspecifiedMatching OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch UMLS:C0152096 semapv:UnspecifiedMatching OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch UMLS:C0796101 semapv:UnspecifiedMatching -OMIM:300484 orofaciodigital syndrome 8 skos:exactMatch orphanet.ordo:2755 semapv:UnspecifiedMatching -OMIM:300485 BCOR skos:exactMatch hgnc:BCOR semapv:UnspecifiedMatching +OMIM:300485 BCOR skos:exactMatch hgnc.symbol:20893 semapv:UnspecifiedMatching +OMIM:300485 BCOR skos:exactMatch hgnc.symbol:BCOR semapv:UnspecifiedMatching OMIM:300485 BCOR skos:exactMatch ncbigene:54880 semapv:UnspecifiedMatching -OMIM:300487 ACTRT1 skos:exactMatch hgnc:ACTRT1 semapv:UnspecifiedMatching +OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:24027 semapv:UnspecifiedMatching +OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:ACTRT1 semapv:UnspecifiedMatching OMIM:300487 ACTRT1 skos:exactMatch ncbigene:139741 semapv:UnspecifiedMatching -OMIM:300490 SH2D1A skos:exactMatch hgnc:SH2D1A semapv:UnspecifiedMatching +OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:10820 semapv:UnspecifiedMatching +OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:SH2D1A semapv:UnspecifiedMatching OMIM:300490 SH2D1A skos:exactMatch ncbigene:4068 semapv:UnspecifiedMatching -OMIM:300492 FAM3A skos:exactMatch hgnc:FAM3A semapv:UnspecifiedMatching +OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:13749 semapv:UnspecifiedMatching +OMIM:300492 FAM3A skos:exactMatch hgnc.symbol:FAM3A semapv:UnspecifiedMatching OMIM:300492 FAM3A skos:exactMatch ncbigene:60343 semapv:UnspecifiedMatching -OMIM:300493 SPANXA2 skos:exactMatch hgnc:SPANXA2 semapv:UnspecifiedMatching +OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:14328 semapv:UnspecifiedMatching +OMIM:300493 SPANXA2 skos:exactMatch hgnc.symbol:SPANXA2 semapv:UnspecifiedMatching OMIM:300493 SPANXA2 skos:exactMatch ncbigene:728712 semapv:UnspecifiedMatching -OMIM:300499 FTSJ1 skos:exactMatch hgnc:FTSJ1 semapv:UnspecifiedMatching +OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:13254 semapv:UnspecifiedMatching +OMIM:300499 FTSJ1 skos:exactMatch hgnc.symbol:FTSJ1 semapv:UnspecifiedMatching OMIM:300499 FTSJ1 skos:exactMatch ncbigene:24140 semapv:UnspecifiedMatching -OMIM:300502 PDHA1 skos:exactMatch hgnc:PDHA1 semapv:UnspecifiedMatching +OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:8806 semapv:UnspecifiedMatching +OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:PDHA1 semapv:UnspecifiedMatching OMIM:300502 PDHA1 skos:exactMatch ncbigene:5160 semapv:UnspecifiedMatching -OMIM:300506 TSC22D3 skos:exactMatch hgnc:TSC22D3 semapv:UnspecifiedMatching +OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:3051 semapv:UnspecifiedMatching +OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:TSC22D3 semapv:UnspecifiedMatching OMIM:300506 TSC22D3 skos:exactMatch ncbigene:1831 semapv:UnspecifiedMatching -OMIM:300507 H2BFWT skos:exactMatch hgnc:H2BW1 semapv:UnspecifiedMatching +OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:27252 semapv:UnspecifiedMatching +OMIM:300507 H2BFWT skos:exactMatch hgnc.symbol:H2BW1 semapv:UnspecifiedMatching OMIM:300507 H2BFWT skos:exactMatch ncbigene:158983 semapv:UnspecifiedMatching OMIM:300508 UTP14A skos:exactMatch UMLS:C1540168 semapv:UnspecifiedMatching -OMIM:300508 UTP14A skos:exactMatch hgnc:UTP14A semapv:UnspecifiedMatching +OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:10665 semapv:UnspecifiedMatching +OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:UTP14A semapv:UnspecifiedMatching OMIM:300508 UTP14A skos:exactMatch ncbigene:10813 semapv:UnspecifiedMatching +OMIM:300510 ovarian dysgenesis 2 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845294 semapv:UnspecifiedMatching OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845295 semapv:UnspecifiedMatching -OMIM:300510 ovarian dysgenesis 2 skos:exactMatch orphanet.ordo:243 semapv:UnspecifiedMatching -OMIM:300512 WDR13 skos:exactMatch hgnc:WDR13 semapv:UnspecifiedMatching +OMIM:300512 WDR13 skos:exactMatch hgnc.symbol:14352 semapv:UnspecifiedMatching +OMIM:300512 WDR13 skos:exactMatch hgnc.symbol:WDR13 semapv:UnspecifiedMatching OMIM:300512 WDR13 skos:exactMatch ncbigene:64743 semapv:UnspecifiedMatching -OMIM:300513 GPR119 skos:exactMatch hgnc:GPR119 semapv:UnspecifiedMatching +OMIM:300513 GPR119 skos:exactMatch hgnc.symbol:19060 semapv:UnspecifiedMatching +OMIM:300513 GPR119 skos:exactMatch hgnc.symbol:GPR119 semapv:UnspecifiedMatching OMIM:300513 GPR119 skos:exactMatch ncbigene:139760 semapv:UnspecifiedMatching -OMIM:300515 FANCB skos:exactMatch hgnc:FANCB semapv:UnspecifiedMatching +OMIM:300515 FANCB skos:exactMatch hgnc.symbol:3583 semapv:UnspecifiedMatching +OMIM:300515 FANCB skos:exactMatch hgnc.symbol:FANCB semapv:UnspecifiedMatching OMIM:300515 FANCB skos:exactMatch ncbigene:2187 semapv:UnspecifiedMatching -OMIM:300516 ATP11C skos:exactMatch hgnc:ATP11C semapv:UnspecifiedMatching +OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:13554 semapv:UnspecifiedMatching +OMIM:300516 ATP11C skos:exactMatch hgnc.symbol:ATP11C semapv:UnspecifiedMatching OMIM:300516 ATP11C skos:exactMatch ncbigene:286410 semapv:UnspecifiedMatching -OMIM:300517 SPIN2B skos:exactMatch hgnc:SPIN2B semapv:UnspecifiedMatching +OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:33147 semapv:UnspecifiedMatching +OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:SPIN2B semapv:UnspecifiedMatching OMIM:300517 SPIN2B skos:exactMatch ncbigene:474343 semapv:UnspecifiedMatching -OMIM:300520 CLDN2 skos:exactMatch hgnc:CLDN2 semapv:UnspecifiedMatching +OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:2041 semapv:UnspecifiedMatching +OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:CLDN2 semapv:UnspecifiedMatching OMIM:300520 CLDN2 skos:exactMatch ncbigene:9075 semapv:UnspecifiedMatching -OMIM:300521 KIF4A skos:exactMatch hgnc:KIF4A semapv:UnspecifiedMatching +OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:13339 semapv:UnspecifiedMatching +OMIM:300521 KIF4A skos:exactMatch hgnc.symbol:KIF4A semapv:UnspecifiedMatching OMIM:300521 KIF4A skos:exactMatch ncbigene:24137 semapv:UnspecifiedMatching -OMIM:300522 IQSEC2 skos:exactMatch hgnc:IQSEC2 semapv:UnspecifiedMatching +OMIM:300522 IQSEC2 skos:exactMatch hgnc.symbol:29059 semapv:UnspecifiedMatching +OMIM:300522 IQSEC2 skos:exactMatch hgnc.symbol:IQSEC2 semapv:UnspecifiedMatching OMIM:300522 IQSEC2 skos:exactMatch ncbigene:23096 semapv:UnspecifiedMatching +OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:280270 semapv:UnspecifiedMatching +OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch Orphanet:59 semapv:UnspecifiedMatching OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch UMLS:C0795889 semapv:UnspecifiedMatching -OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch orphanet.ordo:280270 semapv:UnspecifiedMatching -OMIM:300523 allan-herndon-dudley syndrome skos:exactMatch orphanet.ordo:59 semapv:UnspecifiedMatching -OMIM:300524 NEXMIF skos:exactMatch hgnc:NEXMIF semapv:UnspecifiedMatching +OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:29433 semapv:UnspecifiedMatching +OMIM:300524 NEXMIF skos:exactMatch hgnc.symbol:NEXMIF semapv:UnspecifiedMatching OMIM:300524 NEXMIF skos:exactMatch ncbigene:340533 semapv:UnspecifiedMatching -OMIM:300525 P2RY8 skos:exactMatch hgnc:P2RY8 semapv:UnspecifiedMatching +OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:15524 semapv:UnspecifiedMatching +OMIM:300525 P2RY8 skos:exactMatch hgnc.symbol:P2RY8 semapv:UnspecifiedMatching OMIM:300525 P2RY8 skos:exactMatch ncbigene:286530 semapv:UnspecifiedMatching -OMIM:300526 WDR45 skos:exactMatch hgnc:WDR45 semapv:UnspecifiedMatching +OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:28912 semapv:UnspecifiedMatching +OMIM:300526 WDR45 skos:exactMatch hgnc.symbol:WDR45 semapv:UnspecifiedMatching OMIM:300526 WDR45 skos:exactMatch ncbigene:11152 semapv:UnspecifiedMatching -OMIM:300527 NUDT10 skos:exactMatch hgnc:NUDT10 semapv:UnspecifiedMatching +OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:17621 semapv:UnspecifiedMatching +OMIM:300527 NUDT10 skos:exactMatch hgnc.symbol:NUDT10 semapv:UnspecifiedMatching OMIM:300527 NUDT10 skos:exactMatch ncbigene:170685 semapv:UnspecifiedMatching -OMIM:300528 NUDT11 skos:exactMatch hgnc:NUDT11 semapv:UnspecifiedMatching +OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:18011 semapv:UnspecifiedMatching +OMIM:300528 NUDT11 skos:exactMatch hgnc.symbol:NUDT11 semapv:UnspecifiedMatching OMIM:300528 NUDT11 skos:exactMatch ncbigene:55190 semapv:UnspecifiedMatching -OMIM:300529 P2RY10 skos:exactMatch hgnc:P2RY10 semapv:UnspecifiedMatching +OMIM:300529 P2RY10 skos:exactMatch hgnc.symbol:19906 semapv:UnspecifiedMatching +OMIM:300529 P2RY10 skos:exactMatch hgnc.symbol:P2RY10 semapv:UnspecifiedMatching OMIM:300529 P2RY10 skos:exactMatch ncbigene:27334 semapv:UnspecifiedMatching -OMIM:300531 SPRY3 skos:exactMatch hgnc:SPRY3 semapv:UnspecifiedMatching +OMIM:300531 SPRY3 skos:exactMatch hgnc.symbol:11271 semapv:UnspecifiedMatching +OMIM:300531 SPRY3 skos:exactMatch hgnc.symbol:SPRY3 semapv:UnspecifiedMatching OMIM:300531 SPRY3 skos:exactMatch ncbigene:10251 semapv:UnspecifiedMatching -OMIM:300532 VCX2 skos:exactMatch hgnc:VCX2 semapv:UnspecifiedMatching +OMIM:300532 VCX2 skos:exactMatch hgnc.symbol:18158 semapv:UnspecifiedMatching +OMIM:300532 VCX2 skos:exactMatch hgnc.symbol:VCX2 semapv:UnspecifiedMatching OMIM:300532 VCX2 skos:exactMatch ncbigene:51480 semapv:UnspecifiedMatching -OMIM:300533 VCX3A skos:exactMatch hgnc:VCX3A semapv:UnspecifiedMatching +OMIM:300533 VCX3A skos:exactMatch hgnc.symbol:18159 semapv:UnspecifiedMatching +OMIM:300533 VCX3A skos:exactMatch hgnc.symbol:VCX3A semapv:UnspecifiedMatching OMIM:300533 VCX3A skos:exactMatch ncbigene:51481 semapv:UnspecifiedMatching +OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch Orphanet:85279 semapv:UnspecifiedMatching OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch UMLS:C1845243 semapv:UnspecifiedMatching -OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia skos:exactMatch orphanet.ordo:85279 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch UMLS:C1417931 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching -OMIM:300535 OCRL skos:exactMatch hgnc:OCRL semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch hgnc.symbol:8108 semapv:UnspecifiedMatching +OMIM:300535 OCRL skos:exactMatch hgnc.symbol:OCRL semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch ncbigene:4952 semapv:UnspecifiedMatching -OMIM:300538 AVPR2 skos:exactMatch hgnc:AVPR2 semapv:UnspecifiedMatching +OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:897 semapv:UnspecifiedMatching +OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:AVPR2 semapv:UnspecifiedMatching OMIM:300538 AVPR2 skos:exactMatch ncbigene:554 semapv:UnspecifiedMatching -OMIM:300540 HAUS7 skos:exactMatch hgnc:HAUS7 semapv:UnspecifiedMatching +OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:32979 semapv:UnspecifiedMatching +OMIM:300540 HAUS7 skos:exactMatch hgnc.symbol:HAUS7 semapv:UnspecifiedMatching OMIM:300540 HAUS7 skos:exactMatch ncbigene:55559 semapv:UnspecifiedMatching -OMIM:300541 SSX6 skos:exactMatch hgnc:SSX6P semapv:UnspecifiedMatching +OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:19652 semapv:UnspecifiedMatching +OMIM:300541 SSX6 skos:exactMatch hgnc.symbol:SSX6P semapv:UnspecifiedMatching OMIM:300541 SSX6 skos:exactMatch ncbigene:280657 semapv:UnspecifiedMatching -OMIM:300542 SSX7 skos:exactMatch hgnc:SSX7 semapv:UnspecifiedMatching +OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:19653 semapv:UnspecifiedMatching +OMIM:300542 SSX7 skos:exactMatch hgnc.symbol:SSX7 semapv:UnspecifiedMatching OMIM:300542 SSX7 skos:exactMatch ncbigene:280658 semapv:UnspecifiedMatching -OMIM:300543 SSX8 skos:exactMatch hgnc:SSX8P semapv:UnspecifiedMatching +OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:19654 semapv:UnspecifiedMatching +OMIM:300543 SSX8 skos:exactMatch hgnc.symbol:SSX8P semapv:UnspecifiedMatching OMIM:300543 SSX8 skos:exactMatch ncbigene:280659 semapv:UnspecifiedMatching -OMIM:300544 SSX9 skos:exactMatch hgnc:SSX9P semapv:UnspecifiedMatching +OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:19655 semapv:UnspecifiedMatching +OMIM:300544 SSX9 skos:exactMatch hgnc.symbol:SSX9P semapv:UnspecifiedMatching OMIM:300544 SSX9 skos:exactMatch ncbigene:280660 semapv:UnspecifiedMatching -OMIM:300545 HS6ST2 skos:exactMatch hgnc:HS6ST2 semapv:UnspecifiedMatching +OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:19133 semapv:UnspecifiedMatching +OMIM:300545 HS6ST2 skos:exactMatch hgnc.symbol:HS6ST2 semapv:UnspecifiedMatching OMIM:300545 HS6ST2 skos:exactMatch ncbigene:90161 semapv:UnspecifiedMatching -OMIM:300546 FGD1 skos:exactMatch hgnc:FGD1 semapv:UnspecifiedMatching +OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:3663 semapv:UnspecifiedMatching +OMIM:300546 FGD1 skos:exactMatch hgnc.symbol:FGD1 semapv:UnspecifiedMatching OMIM:300546 FGD1 skos:exactMatch ncbigene:2245 semapv:UnspecifiedMatching OMIM:300547 STK26 skos:exactMatch UMLS:C1845191 semapv:UnspecifiedMatching -OMIM:300547 STK26 skos:exactMatch hgnc:STK26 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch hgnc.symbol:18174 semapv:UnspecifiedMatching +OMIM:300547 STK26 skos:exactMatch hgnc.symbol:STK26 semapv:UnspecifiedMatching OMIM:300547 STK26 skos:exactMatch ncbigene:51765 semapv:UnspecifiedMatching -OMIM:300548 MAGEH1 skos:exactMatch hgnc:MAGEH1 semapv:UnspecifiedMatching +OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:24092 semapv:UnspecifiedMatching +OMIM:300548 MAGEH1 skos:exactMatch hgnc.symbol:MAGEH1 semapv:UnspecifiedMatching OMIM:300548 MAGEH1 skos:exactMatch ncbigene:28986 semapv:UnspecifiedMatching -OMIM:300549 MAGEA2B skos:exactMatch hgnc:MAGEA2B semapv:UnspecifiedMatching +OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:19340 semapv:UnspecifiedMatching +OMIM:300549 MAGEA2B skos:exactMatch hgnc.symbol:MAGEA2B semapv:UnspecifiedMatching OMIM:300549 MAGEA2B skos:exactMatch ncbigene:266740 semapv:UnspecifiedMatching -OMIM:300550 PHEX skos:exactMatch hgnc:PHEX semapv:UnspecifiedMatching +OMIM:300550 PHEX skos:exactMatch hgnc.symbol:8918 semapv:UnspecifiedMatching +OMIM:300550 PHEX skos:exactMatch hgnc.symbol:PHEX semapv:UnspecifiedMatching OMIM:300550 PHEX skos:exactMatch ncbigene:5251 semapv:UnspecifiedMatching -OMIM:300552 MID1 skos:exactMatch hgnc:MID1 semapv:UnspecifiedMatching +OMIM:300552 MID1 skos:exactMatch hgnc.symbol:7095 semapv:UnspecifiedMatching +OMIM:300552 MID1 skos:exactMatch hgnc.symbol:MID1 semapv:UnspecifiedMatching OMIM:300552 MID1 skos:exactMatch ncbigene:4281 semapv:UnspecifiedMatching -OMIM:300553 BRWD3 skos:exactMatch hgnc:BRWD3 semapv:UnspecifiedMatching +OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:17342 semapv:UnspecifiedMatching +OMIM:300553 BRWD3 skos:exactMatch hgnc.symbol:BRWD3 semapv:UnspecifiedMatching OMIM:300553 BRWD3 skos:exactMatch ncbigene:254065 semapv:UnspecifiedMatching +OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching +OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch Orphanet:93622 semapv:UnspecifiedMatching OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch UMLS:C1845168 semapv:UnspecifiedMatching -OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch orphanet.ordo:1652 semapv:UnspecifiedMatching -OMIM:300554 hypophosphatemic rickets, X-linked recessive skos:exactMatch orphanet.ordo:93622 semapv:UnspecifiedMatching +OMIM:300555 dent disease 2 skos:exactMatch Orphanet:1652 semapv:UnspecifiedMatching +OMIM:300555 dent disease 2 skos:exactMatch Orphanet:93623 semapv:UnspecifiedMatching OMIM:300555 dent disease 2 skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching -OMIM:300555 dent disease 2 skos:exactMatch orphanet.ordo:1652 semapv:UnspecifiedMatching -OMIM:300555 dent disease 2 skos:exactMatch orphanet.ordo:93623 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1425435 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C1845543 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C3806722 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching -OMIM:300556 ATP6AP2 skos:exactMatch hgnc:ATP6AP2 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:18305 semapv:UnspecifiedMatching +OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:ATP6AP2 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch ncbigene:10159 semapv:UnspecifiedMatching -OMIM:300560 PHF8 skos:exactMatch hgnc:PHF8 semapv:UnspecifiedMatching +OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:20672 semapv:UnspecifiedMatching +OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:PHF8 semapv:UnspecifiedMatching OMIM:300560 PHF8 skos:exactMatch ncbigene:23133 semapv:UnspecifiedMatching -OMIM:300561 SLITRK2 skos:exactMatch hgnc:SLITRK2 semapv:UnspecifiedMatching +OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:13449 semapv:UnspecifiedMatching +OMIM:300561 SLITRK2 skos:exactMatch hgnc.symbol:SLITRK2 semapv:UnspecifiedMatching OMIM:300561 SLITRK2 skos:exactMatch ncbigene:84631 semapv:UnspecifiedMatching -OMIM:300562 SLITRK4 skos:exactMatch hgnc:SLITRK4 semapv:UnspecifiedMatching +OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:23502 semapv:UnspecifiedMatching +OMIM:300562 SLITRK4 skos:exactMatch hgnc.symbol:SLITRK4 semapv:UnspecifiedMatching OMIM:300562 SLITRK4 skos:exactMatch ncbigene:139065 semapv:UnspecifiedMatching -OMIM:300564 TSPYL2 skos:exactMatch hgnc:TSPYL2 semapv:UnspecifiedMatching +OMIM:300564 TSPYL2 skos:exactMatch hgnc.symbol:24358 semapv:UnspecifiedMatching +OMIM:300564 TSPYL2 skos:exactMatch hgnc.symbol:TSPYL2 semapv:UnspecifiedMatching OMIM:300564 TSPYL2 skos:exactMatch ncbigene:64061 semapv:UnspecifiedMatching -OMIM:300566 LHFPL1 skos:exactMatch hgnc:LHFPL1 semapv:UnspecifiedMatching +OMIM:300566 LHFPL1 skos:exactMatch hgnc.symbol:6587 semapv:UnspecifiedMatching +OMIM:300566 LHFPL1 skos:exactMatch hgnc.symbol:LHFPL1 semapv:UnspecifiedMatching OMIM:300566 LHFPL1 skos:exactMatch ncbigene:340596 semapv:UnspecifiedMatching -OMIM:300567 PGAM4 skos:exactMatch hgnc:PGAM4 semapv:UnspecifiedMatching +OMIM:300567 PGAM4 skos:exactMatch hgnc.symbol:21731 semapv:UnspecifiedMatching +OMIM:300567 PGAM4 skos:exactMatch hgnc.symbol:PGAM4 semapv:UnspecifiedMatching OMIM:300567 PGAM4 skos:exactMatch ncbigene:441531 semapv:UnspecifiedMatching -OMIM:300568 MIR221 skos:exactMatch hgnc:MIR221 semapv:UnspecifiedMatching +OMIM:300568 MIR221 skos:exactMatch hgnc.symbol:31601 semapv:UnspecifiedMatching +OMIM:300568 MIR221 skos:exactMatch hgnc.symbol:MIR221 semapv:UnspecifiedMatching OMIM:300568 MIR221 skos:exactMatch ncbigene:407006 semapv:UnspecifiedMatching -OMIM:300569 MIR222 skos:exactMatch hgnc:MIR222 semapv:UnspecifiedMatching +OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:31602 semapv:UnspecifiedMatching +OMIM:300569 MIR222 skos:exactMatch hgnc.symbol:MIR222 semapv:UnspecifiedMatching OMIM:300569 MIR222 skos:exactMatch ncbigene:407007 semapv:UnspecifiedMatching -OMIM:300570 YY2 skos:exactMatch hgnc:YY2 semapv:UnspecifiedMatching +OMIM:300570 YY2 skos:exactMatch hgnc.symbol:31684 semapv:UnspecifiedMatching +OMIM:300570 YY2 skos:exactMatch hgnc.symbol:YY2 semapv:UnspecifiedMatching OMIM:300570 YY2 skos:exactMatch ncbigene:404281 semapv:UnspecifiedMatching -OMIM:300572 ADGRG2 skos:exactMatch hgnc:ADGRG2 semapv:UnspecifiedMatching +OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:4516 semapv:UnspecifiedMatching +OMIM:300572 ADGRG2 skos:exactMatch hgnc.symbol:ADGRG2 semapv:UnspecifiedMatching OMIM:300572 ADGRG2 skos:exactMatch ncbigene:10149 semapv:UnspecifiedMatching -OMIM:300573 ZNF674 skos:exactMatch hgnc:ZNF674 semapv:UnspecifiedMatching +OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:17625 semapv:UnspecifiedMatching +OMIM:300573 ZNF674 skos:exactMatch hgnc.symbol:ZNF674 semapv:UnspecifiedMatching OMIM:300573 ZNF674 skos:exactMatch ncbigene:641339 semapv:UnspecifiedMatching -OMIM:300574 CXCR3 skos:exactMatch hgnc:CXCR3 semapv:UnspecifiedMatching +OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:4540 semapv:UnspecifiedMatching +OMIM:300574 CXCR3 skos:exactMatch hgnc.symbol:CXCR3 semapv:UnspecifiedMatching OMIM:300574 CXCR3 skos:exactMatch ncbigene:2833 semapv:UnspecifiedMatching -OMIM:300575 RIPPLY1 skos:exactMatch hgnc:RIPPLY1 semapv:UnspecifiedMatching +OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:25117 semapv:UnspecifiedMatching +OMIM:300575 RIPPLY1 skos:exactMatch hgnc.symbol:RIPPLY1 semapv:UnspecifiedMatching OMIM:300575 RIPPLY1 skos:exactMatch ncbigene:92129 semapv:UnspecifiedMatching -OMIM:300576 ZDHHC15 skos:exactMatch hgnc:ZDHHC15 semapv:UnspecifiedMatching +OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:20342 semapv:UnspecifiedMatching +OMIM:300576 ZDHHC15 skos:exactMatch hgnc.symbol:ZDHHC15 semapv:UnspecifiedMatching OMIM:300576 ZDHHC15 skos:exactMatch ncbigene:158866 semapv:UnspecifiedMatching -OMIM:300579 SHROOM4 skos:exactMatch hgnc:SHROOM4 semapv:UnspecifiedMatching +OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:29215 semapv:UnspecifiedMatching +OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:SHROOM4 semapv:UnspecifiedMatching OMIM:300579 SHROOM4 skos:exactMatch ncbigene:57477 semapv:UnspecifiedMatching -OMIM:300583 VGLL1 skos:exactMatch hgnc:VGLL1 semapv:UnspecifiedMatching +OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:20985 semapv:UnspecifiedMatching +OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:VGLL1 semapv:UnspecifiedMatching OMIM:300583 VGLL1 skos:exactMatch ncbigene:51442 semapv:UnspecifiedMatching -OMIM:300585 ZNF673 skos:exactMatch hgnc:KRBOX4 semapv:UnspecifiedMatching +OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:26007 semapv:UnspecifiedMatching +OMIM:300585 ZNF673 skos:exactMatch hgnc.symbol:KRBOX4 semapv:UnspecifiedMatching OMIM:300585 ZNF673 skos:exactMatch ncbigene:55634 semapv:UnspecifiedMatching -OMIM:300586 ARSH skos:exactMatch hgnc:ARSH semapv:UnspecifiedMatching +OMIM:300586 ARSH skos:exactMatch hgnc.symbol:32488 semapv:UnspecifiedMatching +OMIM:300586 ARSH skos:exactMatch hgnc.symbol:ARSH semapv:UnspecifiedMatching OMIM:300586 ARSH skos:exactMatch ncbigene:347527 semapv:UnspecifiedMatching -OMIM:300587 MCTS1 skos:exactMatch hgnc:MCTS1 semapv:UnspecifiedMatching +OMIM:300587 MCTS1 skos:exactMatch hgnc.symbol:23357 semapv:UnspecifiedMatching +OMIM:300587 MCTS1 skos:exactMatch hgnc.symbol:MCTS1 semapv:UnspecifiedMatching OMIM:300587 MCTS1 skos:exactMatch ncbigene:28985 semapv:UnspecifiedMatching -OMIM:300588 TENM1 skos:exactMatch hgnc:TENM1 semapv:UnspecifiedMatching +OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:8117 semapv:UnspecifiedMatching +OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:TENM1 semapv:UnspecifiedMatching OMIM:300588 TENM1 skos:exactMatch ncbigene:10178 semapv:UnspecifiedMatching +OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching -OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch orphanet.ordo:199 semapv:UnspecifiedMatching -OMIM:300592 CT47A11 skos:exactMatch hgnc:CT47A11 semapv:UnspecifiedMatching +OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:27397 semapv:UnspecifiedMatching +OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:CT47A11 semapv:UnspecifiedMatching OMIM:300592 CT47A11 skos:exactMatch ncbigene:255313 semapv:UnspecifiedMatching -OMIM:300593 SPACA5 skos:exactMatch hgnc:SPACA5 semapv:UnspecifiedMatching +OMIM:300593 SPACA5 skos:exactMatch hgnc.symbol:31353 semapv:UnspecifiedMatching +OMIM:300593 SPACA5 skos:exactMatch hgnc.symbol:SPACA5 semapv:UnspecifiedMatching OMIM:300593 SPACA5 skos:exactMatch ncbigene:389852 semapv:UnspecifiedMatching -OMIM:300594 GAGE1 skos:exactMatch hgnc:GAGE1 semapv:UnspecifiedMatching +OMIM:300594 GAGE1 skos:exactMatch hgnc.symbol:4098 semapv:UnspecifiedMatching +OMIM:300594 GAGE1 skos:exactMatch hgnc.symbol:GAGE1 semapv:UnspecifiedMatching OMIM:300594 GAGE1 skos:exactMatch ncbigene:2543 semapv:UnspecifiedMatching -OMIM:300595 GAGE2C skos:exactMatch hgnc:GAGE2C semapv:UnspecifiedMatching +OMIM:300595 GAGE2C skos:exactMatch hgnc.symbol:31958 semapv:UnspecifiedMatching +OMIM:300595 GAGE2C skos:exactMatch hgnc.symbol:GAGE2C semapv:UnspecifiedMatching OMIM:300595 GAGE2C skos:exactMatch ncbigene:2574 semapv:UnspecifiedMatching -OMIM:300597 GAGE4 skos:exactMatch hgnc:GAGE4 semapv:UnspecifiedMatching +OMIM:300597 GAGE4 skos:exactMatch hgnc.symbol:4101 semapv:UnspecifiedMatching +OMIM:300597 GAGE4 skos:exactMatch hgnc.symbol:GAGE4 semapv:UnspecifiedMatching OMIM:300597 GAGE4 skos:exactMatch ncbigene:2576 semapv:UnspecifiedMatching -OMIM:300598 GAGE5 skos:exactMatch hgnc:GAGE5 semapv:UnspecifiedMatching +OMIM:300598 GAGE5 skos:exactMatch hgnc.symbol:4102 semapv:UnspecifiedMatching +OMIM:300598 GAGE5 skos:exactMatch hgnc.symbol:GAGE5 semapv:UnspecifiedMatching OMIM:300598 GAGE5 skos:exactMatch ncbigene:2577 semapv:UnspecifiedMatching -OMIM:300599 GAGE6 skos:exactMatch hgnc:GAGE6 semapv:UnspecifiedMatching +OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:4103 semapv:UnspecifiedMatching +OMIM:300599 GAGE6 skos:exactMatch hgnc.symbol:GAGE6 semapv:UnspecifiedMatching OMIM:300599 GAGE6 skos:exactMatch ncbigene:2578 semapv:UnspecifiedMatching -OMIM:300601 GAGE7 skos:exactMatch hgnc:GAGE7 semapv:UnspecifiedMatching +OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:4104 semapv:UnspecifiedMatching +OMIM:300601 GAGE7 skos:exactMatch hgnc.symbol:GAGE7 semapv:UnspecifiedMatching OMIM:300601 GAGE7 skos:exactMatch ncbigene:2579 semapv:UnspecifiedMatching -OMIM:300603 POF1B skos:exactMatch hgnc:POF1B semapv:UnspecifiedMatching +OMIM:300603 POF1B skos:exactMatch hgnc.symbol:13711 semapv:UnspecifiedMatching +OMIM:300603 POF1B skos:exactMatch hgnc.symbol:POF1B semapv:UnspecifiedMatching OMIM:300603 POF1B skos:exactMatch ncbigene:79983 semapv:UnspecifiedMatching +OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching +OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch UMLS:C1845102 semapv:UnspecifiedMatching -OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch orphanet.ordo:163985 semapv:UnspecifiedMatching -OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch orphanet.ordo:2076 semapv:UnspecifiedMatching OMIM:300608 DACH2 skos:exactMatch UMLS:C1424566 semapv:UnspecifiedMatching -OMIM:300608 DACH2 skos:exactMatch hgnc:DACH2 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:16814 semapv:UnspecifiedMatching +OMIM:300608 DACH2 skos:exactMatch hgnc.symbol:DACH2 semapv:UnspecifiedMatching OMIM:300608 DACH2 skos:exactMatch ncbigene:117154 semapv:UnspecifiedMatching -OMIM:300609 MSL3 skos:exactMatch hgnc:MSL3 semapv:UnspecifiedMatching +OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:7370 semapv:UnspecifiedMatching +OMIM:300609 MSL3 skos:exactMatch hgnc.symbol:MSL3 semapv:UnspecifiedMatching OMIM:300609 MSL3 skos:exactMatch ncbigene:10943 semapv:UnspecifiedMatching -OMIM:300610 HNRNPH2 skos:exactMatch hgnc:HNRNPH2 semapv:UnspecifiedMatching +OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:5042 semapv:UnspecifiedMatching +OMIM:300610 HNRNPH2 skos:exactMatch hgnc.symbol:HNRNPH2 semapv:UnspecifiedMatching OMIM:300610 HNRNPH2 skos:exactMatch ncbigene:3188 semapv:UnspecifiedMatching -OMIM:300611 C1GALT1C1 skos:exactMatch hgnc:C1GALT1C1 semapv:UnspecifiedMatching +OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:24338 semapv:UnspecifiedMatching +OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:C1GALT1C1 semapv:UnspecifiedMatching OMIM:300611 C1GALT1C1 skos:exactMatch ncbigene:29071 semapv:UnspecifiedMatching +OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch Orphanet:139583 semapv:UnspecifiedMatching OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching -OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch orphanet.ordo:139583 semapv:UnspecifiedMatching -OMIM:300616 LUZP4 skos:exactMatch hgnc:LUZP4 semapv:UnspecifiedMatching +OMIM:300616 LUZP4 skos:exactMatch hgnc.symbol:24971 semapv:UnspecifiedMatching +OMIM:300616 LUZP4 skos:exactMatch hgnc.symbol:LUZP4 semapv:UnspecifiedMatching OMIM:300616 LUZP4 skos:exactMatch ncbigene:51213 semapv:UnspecifiedMatching OMIM:300617 BRCC3 skos:exactMatch UMLS:C1826632 semapv:UnspecifiedMatching -OMIM:300617 BRCC3 skos:exactMatch hgnc:BRCC3 semapv:UnspecifiedMatching +OMIM:300617 BRCC3 skos:exactMatch hgnc.symbol:24185 semapv:UnspecifiedMatching +OMIM:300617 BRCC3 skos:exactMatch hgnc.symbol:BRCC3 semapv:UnspecifiedMatching OMIM:300617 BRCC3 skos:exactMatch ncbigene:79184 semapv:UnspecifiedMatching -OMIM:300618 PHF16 skos:exactMatch hgnc:JADE3 semapv:UnspecifiedMatching +OMIM:300618 PHF16 skos:exactMatch hgnc.symbol:22982 semapv:UnspecifiedMatching +OMIM:300618 PHF16 skos:exactMatch hgnc.symbol:JADE3 semapv:UnspecifiedMatching OMIM:300618 PHF16 skos:exactMatch ncbigene:9767 semapv:UnspecifiedMatching -OMIM:300620 VSIG1 skos:exactMatch hgnc:VSIG1 semapv:UnspecifiedMatching +OMIM:300620 VSIG1 skos:exactMatch hgnc.symbol:28675 semapv:UnspecifiedMatching +OMIM:300620 VSIG1 skos:exactMatch hgnc.symbol:VSIG1 semapv:UnspecifiedMatching OMIM:300620 VSIG1 skos:exactMatch ncbigene:340547 semapv:UnspecifiedMatching -OMIM:300621 SPIN2A skos:exactMatch hgnc:SPIN2A semapv:UnspecifiedMatching +OMIM:300621 SPIN2A skos:exactMatch hgnc.symbol:20694 semapv:UnspecifiedMatching +OMIM:300621 SPIN2A skos:exactMatch hgnc.symbol:SPIN2A semapv:UnspecifiedMatching OMIM:300621 SPIN2A skos:exactMatch ncbigene:54466 semapv:UnspecifiedMatching -OMIM:300625 CT83 skos:exactMatch hgnc:CT83 semapv:UnspecifiedMatching +OMIM:300625 CT83 skos:exactMatch hgnc.symbol:33494 semapv:UnspecifiedMatching +OMIM:300625 CT83 skos:exactMatch hgnc.symbol:CT83 semapv:UnspecifiedMatching OMIM:300625 CT83 skos:exactMatch ncbigene:203413 semapv:UnspecifiedMatching -OMIM:300626 ASB11 skos:exactMatch hgnc:ASB11 semapv:UnspecifiedMatching +OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:17186 semapv:UnspecifiedMatching +OMIM:300626 ASB11 skos:exactMatch hgnc.symbol:ASB11 semapv:UnspecifiedMatching OMIM:300626 ASB11 skos:exactMatch ncbigene:140456 semapv:UnspecifiedMatching -OMIM:300627 ZNF449 skos:exactMatch hgnc:ZNF449 semapv:UnspecifiedMatching +OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:21039 semapv:UnspecifiedMatching +OMIM:300627 ZNF449 skos:exactMatch hgnc.symbol:ZNF449 semapv:UnspecifiedMatching OMIM:300627 ZNF449 skos:exactMatch ncbigene:203523 semapv:UnspecifiedMatching -OMIM:300628 FRMD7 skos:exactMatch hgnc:FRMD7 semapv:UnspecifiedMatching +OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:8079 semapv:UnspecifiedMatching +OMIM:300628 FRMD7 skos:exactMatch hgnc.symbol:FRMD7 semapv:UnspecifiedMatching OMIM:300628 FRMD7 skos:exactMatch ncbigene:90167 semapv:UnspecifiedMatching -OMIM:300629 AP1S2 skos:exactMatch hgnc:AP1S2 semapv:UnspecifiedMatching +OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:560 semapv:UnspecifiedMatching +OMIM:300629 AP1S2 skos:exactMatch hgnc.symbol:AP1S2 semapv:UnspecifiedMatching OMIM:300629 AP1S2 skos:exactMatch ncbigene:8905 semapv:UnspecifiedMatching -OMIM:300631 CLTRN skos:exactMatch hgnc:CLTRN semapv:UnspecifiedMatching +OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:29437 semapv:UnspecifiedMatching +OMIM:300631 CLTRN skos:exactMatch hgnc.symbol:CLTRN semapv:UnspecifiedMatching OMIM:300631 CLTRN skos:exactMatch ncbigene:57393 semapv:UnspecifiedMatching -OMIM:300632 PDZD11 skos:exactMatch hgnc:PDZD11 semapv:UnspecifiedMatching +OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:28034 semapv:UnspecifiedMatching +OMIM:300632 PDZD11 skos:exactMatch hgnc.symbol:PDZD11 semapv:UnspecifiedMatching OMIM:300632 PDZD11 skos:exactMatch ncbigene:51248 semapv:UnspecifiedMatching -OMIM:300634 PDZD4 skos:exactMatch hgnc:PDZD4 semapv:UnspecifiedMatching +OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:21167 semapv:UnspecifiedMatching +OMIM:300634 PDZD4 skos:exactMatch hgnc.symbol:PDZD4 semapv:UnspecifiedMatching OMIM:300634 PDZD4 skos:exactMatch ncbigene:57595 semapv:UnspecifiedMatching +OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319605 semapv:UnspecifiedMatching +OMIM:300636 immunodeficiency 33 skos:exactMatch Orphanet:319612 semapv:UnspecifiedMatching OMIM:300636 immunodeficiency 33 skos:exactMatch UMLS:C1970879 semapv:UnspecifiedMatching -OMIM:300636 immunodeficiency 33 skos:exactMatch orphanet.ordo:319605 semapv:UnspecifiedMatching -OMIM:300636 immunodeficiency 33 skos:exactMatch orphanet.ordo:319612 semapv:UnspecifiedMatching -OMIM:300637 GAGE12I skos:exactMatch hgnc:GAGE12I semapv:UnspecifiedMatching +OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:4105 semapv:UnspecifiedMatching +OMIM:300637 GAGE12I skos:exactMatch hgnc.symbol:GAGE12I semapv:UnspecifiedMatching OMIM:300637 GAGE12I skos:exactMatch ncbigene:26748 semapv:UnspecifiedMatching -OMIM:300638 GAGE8 skos:exactMatch hgnc:GAGE8 semapv:UnspecifiedMatching +OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:4106 semapv:UnspecifiedMatching +OMIM:300638 GAGE8 skos:exactMatch hgnc.symbol:GAGE8 semapv:UnspecifiedMatching OMIM:300638 GAGE8 skos:exactMatch ncbigene:100101629 semapv:UnspecifiedMatching -OMIM:300641 SLC25A43 skos:exactMatch hgnc:SLC25A43 semapv:UnspecifiedMatching +OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:30557 semapv:UnspecifiedMatching +OMIM:300641 SLC25A43 skos:exactMatch hgnc.symbol:SLC25A43 semapv:UnspecifiedMatching OMIM:300641 SLC25A43 skos:exactMatch ncbigene:203427 semapv:UnspecifiedMatching -OMIM:300642 SRPX2 skos:exactMatch hgnc:SRPX2 semapv:UnspecifiedMatching +OMIM:300642 SRPX2 skos:exactMatch hgnc.symbol:30668 semapv:UnspecifiedMatching +OMIM:300642 SRPX2 skos:exactMatch hgnc.symbol:SRPX2 semapv:UnspecifiedMatching OMIM:300642 SRPX2 skos:exactMatch ncbigene:27286 semapv:UnspecifiedMatching -OMIM:300644 GLA skos:exactMatch hgnc:GLA semapv:UnspecifiedMatching +OMIM:300644 GLA skos:exactMatch hgnc.symbol:4296 semapv:UnspecifiedMatching +OMIM:300644 GLA skos:exactMatch hgnc.symbol:GLA semapv:UnspecifiedMatching OMIM:300644 GLA skos:exactMatch ncbigene:2717 semapv:UnspecifiedMatching OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C1425540 semapv:UnspecifiedMatching OMIM:300646 ZDHHC9 skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching -OMIM:300646 ZDHHC9 skos:exactMatch hgnc:ZDHHC9 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:18475 semapv:UnspecifiedMatching +OMIM:300646 ZDHHC9 skos:exactMatch hgnc.symbol:ZDHHC9 semapv:UnspecifiedMatching OMIM:300646 ZDHHC9 skos:exactMatch ncbigene:51114 semapv:UnspecifiedMatching -OMIM:300647 AMER1 skos:exactMatch hgnc:AMER1 semapv:UnspecifiedMatching +OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:26837 semapv:UnspecifiedMatching +OMIM:300647 AMER1 skos:exactMatch hgnc.symbol:AMER1 semapv:UnspecifiedMatching OMIM:300647 AMER1 skos:exactMatch ncbigene:139285 semapv:UnspecifiedMatching -OMIM:300648 CT45A1 skos:exactMatch hgnc:CT45A1 semapv:UnspecifiedMatching +OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:33267 semapv:UnspecifiedMatching +OMIM:300648 CT45A1 skos:exactMatch hgnc.symbol:CT45A1 semapv:UnspecifiedMatching OMIM:300648 CT45A1 skos:exactMatch ncbigene:541466 semapv:UnspecifiedMatching -OMIM:300649 SLC38A5 skos:exactMatch hgnc:SLC38A5 semapv:UnspecifiedMatching +OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:18070 semapv:UnspecifiedMatching +OMIM:300649 SLC38A5 skos:exactMatch hgnc.symbol:SLC38A5 semapv:UnspecifiedMatching OMIM:300649 SLC38A5 skos:exactMatch ncbigene:92745 semapv:UnspecifiedMatching +OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching -OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch orphanet.ordo:1000 semapv:UnspecifiedMatching -OMIM:300651 PORCN skos:exactMatch hgnc:PORCN semapv:UnspecifiedMatching +OMIM:300651 PORCN skos:exactMatch hgnc.symbol:17652 semapv:UnspecifiedMatching +OMIM:300651 PORCN skos:exactMatch hgnc.symbol:PORCN semapv:UnspecifiedMatching OMIM:300651 PORCN skos:exactMatch ncbigene:64840 semapv:UnspecifiedMatching -OMIM:300654 FAAH2 skos:exactMatch hgnc:FAAH2 semapv:UnspecifiedMatching +OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:26440 semapv:UnspecifiedMatching +OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:FAAH2 semapv:UnspecifiedMatching OMIM:300654 FAAH2 skos:exactMatch ncbigene:158584 semapv:UnspecifiedMatching -OMIM:300655 KLHL13 skos:exactMatch hgnc:KLHL13 semapv:UnspecifiedMatching +OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:22931 semapv:UnspecifiedMatching +OMIM:300655 KLHL13 skos:exactMatch hgnc.symbol:KLHL13 semapv:UnspecifiedMatching OMIM:300655 KLHL13 skos:exactMatch ncbigene:90293 semapv:UnspecifiedMatching OMIM:300656 UPRT skos:exactMatch UMLS:C1823601 semapv:UnspecifiedMatching -OMIM:300656 UPRT skos:exactMatch hgnc:UPRT semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch hgnc.symbol:28334 semapv:UnspecifiedMatching +OMIM:300656 UPRT skos:exactMatch hgnc.symbol:UPRT semapv:UnspecifiedMatching OMIM:300656 UPRT skos:exactMatch ncbigene:139596 semapv:UnspecifiedMatching -OMIM:300657 CTAG1A skos:exactMatch hgnc:CTAG1A semapv:UnspecifiedMatching +OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:24198 semapv:UnspecifiedMatching +OMIM:300657 CTAG1A skos:exactMatch hgnc.symbol:CTAG1A semapv:UnspecifiedMatching OMIM:300657 CTAG1A skos:exactMatch ncbigene:246100 semapv:UnspecifiedMatching -OMIM:300658 NDP skos:exactMatch hgnc:NDP semapv:UnspecifiedMatching +OMIM:300658 NDP skos:exactMatch hgnc.symbol:7678 semapv:UnspecifiedMatching +OMIM:300658 NDP skos:exactMatch hgnc.symbol:NDP semapv:UnspecifiedMatching OMIM:300658 NDP skos:exactMatch ncbigene:4693 semapv:UnspecifiedMatching -OMIM:300662 SNORA11 skos:exactMatch hgnc:SNORA11 semapv:UnspecifiedMatching +OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:32599 semapv:UnspecifiedMatching +OMIM:300662 SNORA11 skos:exactMatch hgnc.symbol:SNORA11 semapv:UnspecifiedMatching OMIM:300662 SNORA11 skos:exactMatch ncbigene:677799 semapv:UnspecifiedMatching OMIM:300663 ATG4A skos:exactMatch UMLS:C1825494 semapv:UnspecifiedMatching -OMIM:300663 ATG4A skos:exactMatch hgnc:ATG4A semapv:UnspecifiedMatching +OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:16489 semapv:UnspecifiedMatching +OMIM:300663 ATG4A skos:exactMatch hgnc.symbol:ATG4A semapv:UnspecifiedMatching OMIM:300663 ATG4A skos:exactMatch ncbigene:115201 semapv:UnspecifiedMatching -OMIM:300664 SPANXN1 skos:exactMatch hgnc:SPANXN1 semapv:UnspecifiedMatching +OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:33174 semapv:UnspecifiedMatching +OMIM:300664 SPANXN1 skos:exactMatch hgnc.symbol:SPANXN1 semapv:UnspecifiedMatching OMIM:300664 SPANXN1 skos:exactMatch ncbigene:494118 semapv:UnspecifiedMatching -OMIM:300665 SPANXN2 skos:exactMatch hgnc:SPANXN2 semapv:UnspecifiedMatching +OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:33175 semapv:UnspecifiedMatching +OMIM:300665 SPANXN2 skos:exactMatch hgnc.symbol:SPANXN2 semapv:UnspecifiedMatching OMIM:300665 SPANXN2 skos:exactMatch ncbigene:494119 semapv:UnspecifiedMatching -OMIM:300666 SPANXN3 skos:exactMatch hgnc:SPANXN3 semapv:UnspecifiedMatching +OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:33176 semapv:UnspecifiedMatching +OMIM:300666 SPANXN3 skos:exactMatch hgnc.symbol:SPANXN3 semapv:UnspecifiedMatching OMIM:300666 SPANXN3 skos:exactMatch ncbigene:139067 semapv:UnspecifiedMatching -OMIM:300667 SPANXN4 skos:exactMatch hgnc:SPANXN4 semapv:UnspecifiedMatching +OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:33177 semapv:UnspecifiedMatching +OMIM:300667 SPANXN4 skos:exactMatch hgnc.symbol:SPANXN4 semapv:UnspecifiedMatching OMIM:300667 SPANXN4 skos:exactMatch ncbigene:441525 semapv:UnspecifiedMatching -OMIM:300668 SPANXN5 skos:exactMatch hgnc:SPANXN5 semapv:UnspecifiedMatching +OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:33178 semapv:UnspecifiedMatching +OMIM:300668 SPANXN5 skos:exactMatch hgnc.symbol:SPANXN5 semapv:UnspecifiedMatching OMIM:300668 SPANXN5 skos:exactMatch ncbigene:494197 semapv:UnspecifiedMatching -OMIM:300669 SPANXB1 skos:exactMatch hgnc:SPANXB1 semapv:UnspecifiedMatching +OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:14329 semapv:UnspecifiedMatching +OMIM:300669 SPANXB1 skos:exactMatch hgnc.symbol:SPANXB1 semapv:UnspecifiedMatching OMIM:300669 SPANXB1 skos:exactMatch ncbigene:728695 semapv:UnspecifiedMatching -OMIM:300670 SPANXD skos:exactMatch hgnc:SPANXD semapv:UnspecifiedMatching +OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:14332 semapv:UnspecifiedMatching +OMIM:300670 SPANXD skos:exactMatch hgnc.symbol:SPANXD semapv:UnspecifiedMatching OMIM:300670 SPANXD skos:exactMatch ncbigene:64648 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch Orphanet:505652 semapv:UnspecifiedMatching OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch UMLS:C4750718 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch orphanet.ordo:3095 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:300672 developmental and epileptic encephalopathy 2 skos:exactMatch orphanet.ordo:505652 semapv:UnspecifiedMatching -OMIM:300674 MOSPD1 skos:exactMatch hgnc:MOSPD1 semapv:UnspecifiedMatching +OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:25235 semapv:UnspecifiedMatching +OMIM:300674 MOSPD1 skos:exactMatch hgnc.symbol:MOSPD1 semapv:UnspecifiedMatching OMIM:300674 MOSPD1 skos:exactMatch ncbigene:56180 semapv:UnspecifiedMatching -OMIM:300675 PNMA3 skos:exactMatch hgnc:PNMA3 semapv:UnspecifiedMatching +OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:18742 semapv:UnspecifiedMatching +OMIM:300675 PNMA3 skos:exactMatch hgnc.symbol:PNMA3 semapv:UnspecifiedMatching OMIM:300675 PNMA3 skos:exactMatch ncbigene:29944 semapv:UnspecifiedMatching OMIM:300677 TXLNG skos:exactMatch UMLS:C1425616 semapv:UnspecifiedMatching -OMIM:300677 TXLNG skos:exactMatch hgnc:TXLNG semapv:UnspecifiedMatching +OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:18578 semapv:UnspecifiedMatching +OMIM:300677 TXLNG skos:exactMatch hgnc.symbol:TXLNG semapv:UnspecifiedMatching OMIM:300677 TXLNG skos:exactMatch ncbigene:55787 semapv:UnspecifiedMatching -OMIM:300678 DUSP21 skos:exactMatch hgnc:DUSP21 semapv:UnspecifiedMatching +OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:20476 semapv:UnspecifiedMatching +OMIM:300678 DUSP21 skos:exactMatch hgnc.symbol:DUSP21 semapv:UnspecifiedMatching OMIM:300678 DUSP21 skos:exactMatch ncbigene:63904 semapv:UnspecifiedMatching -OMIM:300680 PNCK skos:exactMatch hgnc:PNCK semapv:UnspecifiedMatching +OMIM:300680 PNCK skos:exactMatch hgnc.symbol:13415 semapv:UnspecifiedMatching +OMIM:300680 PNCK skos:exactMatch hgnc.symbol:PNCK semapv:UnspecifiedMatching OMIM:300680 PNCK skos:exactMatch ncbigene:139728 semapv:UnspecifiedMatching -OMIM:300681 DOCK11 skos:exactMatch hgnc:DOCK11 semapv:UnspecifiedMatching +OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:23483 semapv:UnspecifiedMatching +OMIM:300681 DOCK11 skos:exactMatch hgnc.symbol:DOCK11 semapv:UnspecifiedMatching OMIM:300681 DOCK11 skos:exactMatch ncbigene:139818 semapv:UnspecifiedMatching -OMIM:300682 MIR424 skos:exactMatch hgnc:MIR424 semapv:UnspecifiedMatching +OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:31881 semapv:UnspecifiedMatching +OMIM:300682 MIR424 skos:exactMatch hgnc.symbol:MIR424 semapv:UnspecifiedMatching OMIM:300682 MIR424 skos:exactMatch ncbigene:494336 semapv:UnspecifiedMatching -OMIM:300683 SEPT6 skos:exactMatch hgnc:SEPTIN6 semapv:UnspecifiedMatching +OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:15848 semapv:UnspecifiedMatching +OMIM:300683 SEPT6 skos:exactMatch hgnc.symbol:SEPTIN6 semapv:UnspecifiedMatching OMIM:300683 SEPT6 skos:exactMatch ncbigene:23157 semapv:UnspecifiedMatching -OMIM:300684 XKRX skos:exactMatch hgnc:XKRX semapv:UnspecifiedMatching +OMIM:300684 XKRX skos:exactMatch hgnc.symbol:29845 semapv:UnspecifiedMatching +OMIM:300684 XKRX skos:exactMatch hgnc.symbol:XKRX semapv:UnspecifiedMatching OMIM:300684 XKRX skos:exactMatch ncbigene:402415 semapv:UnspecifiedMatching -OMIM:300685 PRRG3 skos:exactMatch hgnc:PRRG3 semapv:UnspecifiedMatching +OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:30798 semapv:UnspecifiedMatching +OMIM:300685 PRRG3 skos:exactMatch hgnc.symbol:PRRG3 semapv:UnspecifiedMatching OMIM:300685 PRRG3 skos:exactMatch ncbigene:79057 semapv:UnspecifiedMatching -OMIM:300686 MIR448 skos:exactMatch hgnc:MIR448 semapv:UnspecifiedMatching +OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:26069 semapv:UnspecifiedMatching +OMIM:300686 MIR448 skos:exactMatch hgnc.symbol:MIR448 semapv:UnspecifiedMatching OMIM:300686 MIR448 skos:exactMatch ncbigene:554212 semapv:UnspecifiedMatching -OMIM:300687 ERCC6L skos:exactMatch hgnc:ERCC6L semapv:UnspecifiedMatching +OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:20794 semapv:UnspecifiedMatching +OMIM:300687 ERCC6L skos:exactMatch hgnc.symbol:ERCC6L semapv:UnspecifiedMatching OMIM:300687 ERCC6L skos:exactMatch ncbigene:54821 semapv:UnspecifiedMatching -OMIM:300688 BCORL1 skos:exactMatch hgnc:BCORL1 semapv:UnspecifiedMatching +OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:25657 semapv:UnspecifiedMatching +OMIM:300688 BCORL1 skos:exactMatch hgnc.symbol:BCORL1 semapv:UnspecifiedMatching OMIM:300688 BCORL1 skos:exactMatch ncbigene:63035 semapv:UnspecifiedMatching -OMIM:300689 STARD8 skos:exactMatch hgnc:STARD8 semapv:UnspecifiedMatching +OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:19161 semapv:UnspecifiedMatching +OMIM:300689 STARD8 skos:exactMatch hgnc.symbol:STARD8 semapv:UnspecifiedMatching OMIM:300689 STARD8 skos:exactMatch ncbigene:9754 semapv:UnspecifiedMatching -OMIM:300690 BEX1 skos:exactMatch hgnc:BEX1 semapv:UnspecifiedMatching +OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:1036 semapv:UnspecifiedMatching +OMIM:300690 BEX1 skos:exactMatch hgnc.symbol:BEX1 semapv:UnspecifiedMatching OMIM:300690 BEX1 skos:exactMatch ncbigene:55859 semapv:UnspecifiedMatching -OMIM:300691 BEX2 skos:exactMatch hgnc:BEX2 semapv:UnspecifiedMatching +OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:30933 semapv:UnspecifiedMatching +OMIM:300691 BEX2 skos:exactMatch hgnc.symbol:BEX2 semapv:UnspecifiedMatching OMIM:300691 BEX2 skos:exactMatch ncbigene:84707 semapv:UnspecifiedMatching -OMIM:300692 BEX4 skos:exactMatch hgnc:BEX4 semapv:UnspecifiedMatching +OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:25475 semapv:UnspecifiedMatching +OMIM:300692 BEX4 skos:exactMatch hgnc.symbol:BEX4 semapv:UnspecifiedMatching OMIM:300692 BEX4 skos:exactMatch ncbigene:56271 semapv:UnspecifiedMatching -OMIM:300693 BEX5 skos:exactMatch hgnc:BEX5 semapv:UnspecifiedMatching +OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:27990 semapv:UnspecifiedMatching +OMIM:300693 BEX5 skos:exactMatch hgnc.symbol:BEX5 semapv:UnspecifiedMatching OMIM:300693 BEX5 skos:exactMatch ncbigene:340542 semapv:UnspecifiedMatching -OMIM:300694 MIR223 skos:exactMatch hgnc:MIR223 semapv:UnspecifiedMatching +OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:31603 semapv:UnspecifiedMatching +OMIM:300694 MIR223 skos:exactMatch hgnc.symbol:MIR223 semapv:UnspecifiedMatching OMIM:300694 MIR223 skos:exactMatch ncbigene:407008 semapv:UnspecifiedMatching OMIM:300697 HUWE1 skos:exactMatch UMLS:C1537395 semapv:UnspecifiedMatching OMIM:300697 HUWE1 skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching -OMIM:300697 HUWE1 skos:exactMatch hgnc:HUWE1 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:30892 semapv:UnspecifiedMatching +OMIM:300697 HUWE1 skos:exactMatch hgnc.symbol:HUWE1 semapv:UnspecifiedMatching OMIM:300697 HUWE1 skos:exactMatch ncbigene:10075 semapv:UnspecifiedMatching -OMIM:300698 TMEM47 skos:exactMatch hgnc:TMEM47 semapv:UnspecifiedMatching +OMIM:300698 TMEM47 skos:exactMatch hgnc.symbol:18515 semapv:UnspecifiedMatching +OMIM:300698 TMEM47 skos:exactMatch hgnc.symbol:TMEM47 semapv:UnspecifiedMatching OMIM:300698 TMEM47 skos:exactMatch ncbigene:83604 semapv:UnspecifiedMatching +OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch Orphanet:364028 semapv:UnspecifiedMatching OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch UMLS:C2678051 semapv:UnspecifiedMatching -OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia skos:exactMatch orphanet.ordo:364028 semapv:UnspecifiedMatching -OMIM:300701 ZCCHC12 skos:exactMatch hgnc:ZCCHC12 semapv:UnspecifiedMatching +OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:27273 semapv:UnspecifiedMatching +OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:ZCCHC12 semapv:UnspecifiedMatching OMIM:300701 ZCCHC12 skos:exactMatch ncbigene:170261 semapv:UnspecifiedMatching -OMIM:300702 MAGED4 skos:exactMatch hgnc:MAGED4 semapv:UnspecifiedMatching +OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:23793 semapv:UnspecifiedMatching +OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:MAGED4 semapv:UnspecifiedMatching OMIM:300702 MAGED4 skos:exactMatch ncbigene:728239 semapv:UnspecifiedMatching -OMIM:300708 CCNQ skos:exactMatch hgnc:CCNQ semapv:UnspecifiedMatching +OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:28434 semapv:UnspecifiedMatching +OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:CCNQ semapv:UnspecifiedMatching OMIM:300708 CCNQ skos:exactMatch ncbigene:92002 semapv:UnspecifiedMatching -OMIM:300713 OTUD5 skos:exactMatch hgnc:OTUD5 semapv:UnspecifiedMatching +OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:25402 semapv:UnspecifiedMatching +OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:OTUD5 semapv:UnspecifiedMatching OMIM:300713 OTUD5 skos:exactMatch ncbigene:55593 semapv:UnspecifiedMatching -OMIM:300714 OTUD6A skos:exactMatch hgnc:OTUD6A semapv:UnspecifiedMatching +OMIM:300714 OTUD6A skos:exactMatch hgnc.symbol:32312 semapv:UnspecifiedMatching +OMIM:300714 OTUD6A skos:exactMatch hgnc.symbol:OTUD6A semapv:UnspecifiedMatching OMIM:300714 OTUD6A skos:exactMatch ncbigene:139562 semapv:UnspecifiedMatching -OMIM:300715 MAGT1 skos:exactMatch hgnc:MAGT1 semapv:UnspecifiedMatching +OMIM:300715 MAGT1 skos:exactMatch hgnc.symbol:28880 semapv:UnspecifiedMatching +OMIM:300715 MAGT1 skos:exactMatch hgnc.symbol:MAGT1 semapv:UnspecifiedMatching OMIM:300715 MAGT1 skos:exactMatch ncbigene:84061 semapv:UnspecifiedMatching +OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch UMLS:C2678034 semapv:UnspecifiedMatching -OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch orphanet.ordo:777 semapv:UnspecifiedMatching -OMIM:300720 GAGE2A skos:exactMatch hgnc:GAGE2A semapv:UnspecifiedMatching +OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:4099 semapv:UnspecifiedMatching +OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:GAGE2A semapv:UnspecifiedMatching OMIM:300720 GAGE2A skos:exactMatch ncbigene:729447 semapv:UnspecifiedMatching -OMIM:300721 MIRLET7F2 skos:exactMatch hgnc:MIRLET7F2 semapv:UnspecifiedMatching +OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:31484 semapv:UnspecifiedMatching +OMIM:300721 MIRLET7F2 skos:exactMatch hgnc.symbol:MIRLET7F2 semapv:UnspecifiedMatching OMIM:300721 MIRLET7F2 skos:exactMatch ncbigene:406889 semapv:UnspecifiedMatching -OMIM:300722 MIR19B2 skos:exactMatch hgnc:MIR19B2 semapv:UnspecifiedMatching +OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:31576 semapv:UnspecifiedMatching +OMIM:300722 MIR19B2 skos:exactMatch hgnc.symbol:MIR19B2 semapv:UnspecifiedMatching OMIM:300722 MIR19B2 skos:exactMatch ncbigene:406981 semapv:UnspecifiedMatching -OMIM:300723 SYTL4 skos:exactMatch hgnc:SYTL4 semapv:UnspecifiedMatching +OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:15588 semapv:UnspecifiedMatching +OMIM:300723 SYTL4 skos:exactMatch hgnc.symbol:SYTL4 semapv:UnspecifiedMatching OMIM:300723 SYTL4 skos:exactMatch ncbigene:94121 semapv:UnspecifiedMatching -OMIM:300724 CNKSR2 skos:exactMatch hgnc:CNKSR2 semapv:UnspecifiedMatching +OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:19701 semapv:UnspecifiedMatching +OMIM:300724 CNKSR2 skos:exactMatch hgnc.symbol:CNKSR2 semapv:UnspecifiedMatching OMIM:300724 CNKSR2 skos:exactMatch ncbigene:22866 semapv:UnspecifiedMatching -OMIM:300725 RRAGB skos:exactMatch hgnc:RRAGB semapv:UnspecifiedMatching +OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:19901 semapv:UnspecifiedMatching +OMIM:300725 RRAGB skos:exactMatch hgnc.symbol:RRAGB semapv:UnspecifiedMatching OMIM:300725 RRAGB skos:exactMatch ncbigene:10325 semapv:UnspecifiedMatching -OMIM:300726 GAGE2B skos:exactMatch hgnc:GAGE2B semapv:UnspecifiedMatching +OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:31957 semapv:UnspecifiedMatching +OMIM:300726 GAGE2B skos:exactMatch hgnc.symbol:GAGE2B semapv:UnspecifiedMatching OMIM:300726 GAGE2B skos:exactMatch ncbigene:645037 semapv:UnspecifiedMatching -OMIM:300727 GAGE12C skos:exactMatch hgnc:GAGE12C semapv:UnspecifiedMatching +OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:28402 semapv:UnspecifiedMatching +OMIM:300727 GAGE12C skos:exactMatch hgnc.symbol:GAGE12C semapv:UnspecifiedMatching OMIM:300727 GAGE12C skos:exactMatch ncbigene:729422 semapv:UnspecifiedMatching -OMIM:300728 GAGE12D skos:exactMatch hgnc:GAGE12D semapv:UnspecifiedMatching +OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:31904 semapv:UnspecifiedMatching +OMIM:300728 GAGE12D skos:exactMatch hgnc.symbol:GAGE12D semapv:UnspecifiedMatching OMIM:300728 GAGE12D skos:exactMatch ncbigene:100132399 semapv:UnspecifiedMatching -OMIM:300729 GAGE12E skos:exactMatch hgnc:GAGE12E semapv:UnspecifiedMatching +OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:31905 semapv:UnspecifiedMatching +OMIM:300729 GAGE12E skos:exactMatch hgnc.symbol:GAGE12E semapv:UnspecifiedMatching OMIM:300729 GAGE12E skos:exactMatch ncbigene:729431 semapv:UnspecifiedMatching -OMIM:300730 GAGE12F skos:exactMatch hgnc:GAGE12F semapv:UnspecifiedMatching +OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:31906 semapv:UnspecifiedMatching +OMIM:300730 GAGE12F skos:exactMatch hgnc.symbol:GAGE12F semapv:UnspecifiedMatching OMIM:300730 GAGE12F skos:exactMatch ncbigene:100008586 semapv:UnspecifiedMatching -OMIM:300731 GAGE12G skos:exactMatch hgnc:GAGE12G semapv:UnspecifiedMatching +OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:31907 semapv:UnspecifiedMatching +OMIM:300731 GAGE12G skos:exactMatch hgnc.symbol:GAGE12G semapv:UnspecifiedMatching OMIM:300731 GAGE12G skos:exactMatch ncbigene:645073 semapv:UnspecifiedMatching -OMIM:300732 GAGE12H skos:exactMatch hgnc:GAGE12H semapv:UnspecifiedMatching +OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:31908 semapv:UnspecifiedMatching +OMIM:300732 GAGE12H skos:exactMatch hgnc.symbol:GAGE12H semapv:UnspecifiedMatching OMIM:300732 GAGE12H skos:exactMatch ncbigene:729442 semapv:UnspecifiedMatching -OMIM:300733 GAGE12J skos:exactMatch hgnc:GAGE12J semapv:UnspecifiedMatching +OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:17778 semapv:UnspecifiedMatching +OMIM:300733 GAGE12J skos:exactMatch hgnc.symbol:GAGE12J semapv:UnspecifiedMatching OMIM:300733 GAGE12J skos:exactMatch ncbigene:729396 semapv:UnspecifiedMatching -OMIM:300734 GAGE13 skos:exactMatch hgnc:GAGE13 semapv:UnspecifiedMatching +OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:29081 semapv:UnspecifiedMatching +OMIM:300734 GAGE13 skos:exactMatch hgnc.symbol:GAGE13 semapv:UnspecifiedMatching OMIM:300734 GAGE13 skos:exactMatch ncbigene:645051 semapv:UnspecifiedMatching -OMIM:300735 GAGE2D skos:exactMatch hgnc:GAGE2D semapv:UnspecifiedMatching +OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:31959 semapv:UnspecifiedMatching +OMIM:300735 GAGE2D skos:exactMatch hgnc.symbol:GAGE2D semapv:UnspecifiedMatching OMIM:300735 GAGE2D skos:exactMatch ncbigene:729408 semapv:UnspecifiedMatching -OMIM:300736 GAGE2E skos:exactMatch hgnc:GAGE2E semapv:UnspecifiedMatching +OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:31960 semapv:UnspecifiedMatching +OMIM:300736 GAGE2E skos:exactMatch hgnc.symbol:GAGE2E semapv:UnspecifiedMatching OMIM:300736 GAGE2E skos:exactMatch ncbigene:26749 semapv:UnspecifiedMatching -OMIM:300737 GAGE10 skos:exactMatch hgnc:GAGE10 semapv:UnspecifiedMatching +OMIM:300737 GAGE10 skos:exactMatch hgnc.symbol:30968 semapv:UnspecifiedMatching +OMIM:300737 GAGE10 skos:exactMatch hgnc.symbol:GAGE10 semapv:UnspecifiedMatching OMIM:300737 GAGE10 skos:exactMatch ncbigene:102724473 semapv:UnspecifiedMatching -OMIM:300738 PAGE2 skos:exactMatch hgnc:PAGE2 semapv:UnspecifiedMatching +OMIM:300738 PAGE2 skos:exactMatch hgnc.symbol:31804 semapv:UnspecifiedMatching +OMIM:300738 PAGE2 skos:exactMatch hgnc.symbol:PAGE2 semapv:UnspecifiedMatching OMIM:300738 PAGE2 skos:exactMatch ncbigene:203569 semapv:UnspecifiedMatching -OMIM:300739 PAGE3 skos:exactMatch hgnc:PAGE3 semapv:UnspecifiedMatching +OMIM:300739 PAGE3 skos:exactMatch hgnc.symbol:4110 semapv:UnspecifiedMatching +OMIM:300739 PAGE3 skos:exactMatch hgnc.symbol:PAGE3 semapv:UnspecifiedMatching OMIM:300739 PAGE3 skos:exactMatch ncbigene:139793 semapv:UnspecifiedMatching -OMIM:300740 XAGE3 skos:exactMatch hgnc:XAGE3 semapv:UnspecifiedMatching +OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:14618 semapv:UnspecifiedMatching +OMIM:300740 XAGE3 skos:exactMatch hgnc.symbol:XAGE3 semapv:UnspecifiedMatching OMIM:300740 XAGE3 skos:exactMatch ncbigene:170626 semapv:UnspecifiedMatching -OMIM:300741 FAM120C skos:exactMatch hgnc:FAM120C semapv:UnspecifiedMatching +OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:16949 semapv:UnspecifiedMatching +OMIM:300741 FAM120C skos:exactMatch hgnc.symbol:FAM120C semapv:UnspecifiedMatching OMIM:300741 FAM120C skos:exactMatch ncbigene:54954 semapv:UnspecifiedMatching -OMIM:300742 XAGE1A skos:exactMatch hgnc:XAGE1A semapv:UnspecifiedMatching +OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:4111 semapv:UnspecifiedMatching +OMIM:300742 XAGE1A skos:exactMatch hgnc.symbol:XAGE1A semapv:UnspecifiedMatching OMIM:300742 XAGE1A skos:exactMatch ncbigene:653220 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C0008533 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C1366464 semapv:UnspecifiedMatching @@ -8483,559 +11302,776 @@ OMIM:300746 F9 skos:exactMatch UMLS:C4016495 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C4016496 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C4016497 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching -OMIM:300746 F9 skos:exactMatch hgnc:F9 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch hgnc.symbol:3551 semapv:UnspecifiedMatching +OMIM:300746 F9 skos:exactMatch hgnc.symbol:F9 semapv:UnspecifiedMatching OMIM:300746 F9 skos:exactMatch ncbigene:2158 semapv:UnspecifiedMatching -OMIM:300747 STS skos:exactMatch hgnc:STS semapv:UnspecifiedMatching +OMIM:300747 STS skos:exactMatch hgnc.symbol:11425 semapv:UnspecifiedMatching +OMIM:300747 STS skos:exactMatch hgnc.symbol:STS semapv:UnspecifiedMatching OMIM:300747 STS skos:exactMatch ncbigene:412 semapv:UnspecifiedMatching -OMIM:300748 GPR82 skos:exactMatch hgnc:GPR82 semapv:UnspecifiedMatching +OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:4533 semapv:UnspecifiedMatching +OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:GPR82 semapv:UnspecifiedMatching OMIM:300748 GPR82 skos:exactMatch ncbigene:27197 semapv:UnspecifiedMatching -OMIM:300753 APOO skos:exactMatch hgnc:APOO semapv:UnspecifiedMatching +OMIM:300753 APOO skos:exactMatch hgnc.symbol:28727 semapv:UnspecifiedMatching +OMIM:300753 APOO skos:exactMatch hgnc.symbol:APOO semapv:UnspecifiedMatching OMIM:300753 APOO skos:exactMatch ncbigene:79135 semapv:UnspecifiedMatching -OMIM:300754 TAF9B skos:exactMatch hgnc:TAF9B semapv:UnspecifiedMatching +OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:17306 semapv:UnspecifiedMatching +OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:TAF9B semapv:UnspecifiedMatching OMIM:300754 TAF9B skos:exactMatch ncbigene:51616 semapv:UnspecifiedMatching -OMIM:300757 RP2 skos:exactMatch hgnc:RP2 semapv:UnspecifiedMatching +OMIM:300757 RP2 skos:exactMatch hgnc.symbol:10274 semapv:UnspecifiedMatching +OMIM:300757 RP2 skos:exactMatch hgnc.symbol:RP2 semapv:UnspecifiedMatching OMIM:300757 RP2 skos:exactMatch ncbigene:6102 semapv:UnspecifiedMatching -OMIM:300759 MAGEE1 skos:exactMatch hgnc:MAGEE1 semapv:UnspecifiedMatching +OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:24934 semapv:UnspecifiedMatching +OMIM:300759 MAGEE1 skos:exactMatch hgnc.symbol:MAGEE1 semapv:UnspecifiedMatching OMIM:300759 MAGEE1 skos:exactMatch ncbigene:57692 semapv:UnspecifiedMatching -OMIM:300760 MAGEE2 skos:exactMatch hgnc:MAGEE2 semapv:UnspecifiedMatching +OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:24935 semapv:UnspecifiedMatching +OMIM:300760 MAGEE2 skos:exactMatch hgnc.symbol:MAGEE2 semapv:UnspecifiedMatching OMIM:300760 MAGEE2 skos:exactMatch ncbigene:139599 semapv:UnspecifiedMatching -OMIM:300761 MAGEB10 skos:exactMatch hgnc:MAGEB10 semapv:UnspecifiedMatching +OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:25377 semapv:UnspecifiedMatching +OMIM:300761 MAGEB10 skos:exactMatch hgnc.symbol:MAGEB10 semapv:UnspecifiedMatching OMIM:300761 MAGEB10 skos:exactMatch ncbigene:139422 semapv:UnspecifiedMatching -OMIM:300762 MAGEB16 skos:exactMatch hgnc:MAGEB16 semapv:UnspecifiedMatching +OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:21188 semapv:UnspecifiedMatching +OMIM:300762 MAGEB16 skos:exactMatch hgnc.symbol:MAGEB16 semapv:UnspecifiedMatching OMIM:300762 MAGEB16 skos:exactMatch ncbigene:139604 semapv:UnspecifiedMatching -OMIM:300763 MAGEB17 skos:exactMatch hgnc:MAGEB17 semapv:UnspecifiedMatching +OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:17418 semapv:UnspecifiedMatching +OMIM:300763 MAGEB17 skos:exactMatch hgnc.symbol:MAGEB17 semapv:UnspecifiedMatching OMIM:300763 MAGEB17 skos:exactMatch ncbigene:645864 semapv:UnspecifiedMatching -OMIM:300764 MAGEA9B skos:exactMatch hgnc:MAGEA9B semapv:UnspecifiedMatching +OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:31909 semapv:UnspecifiedMatching +OMIM:300764 MAGEA9B skos:exactMatch hgnc.symbol:MAGEA9B semapv:UnspecifiedMatching OMIM:300764 MAGEA9B skos:exactMatch ncbigene:728269 semapv:UnspecifiedMatching -OMIM:300765 MAGED4B skos:exactMatch hgnc:MAGED4B semapv:UnspecifiedMatching +OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:22880 semapv:UnspecifiedMatching +OMIM:300765 MAGED4B skos:exactMatch hgnc.symbol:MAGED4B semapv:UnspecifiedMatching OMIM:300765 MAGED4B skos:exactMatch ncbigene:81557 semapv:UnspecifiedMatching OMIM:300766 NKAP skos:exactMatch UMLS:C2239784 semapv:UnspecifiedMatching OMIM:300766 NKAP skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching -OMIM:300766 NKAP skos:exactMatch hgnc:NKAP semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch hgnc.symbol:29873 semapv:UnspecifiedMatching +OMIM:300766 NKAP skos:exactMatch hgnc.symbol:NKAP semapv:UnspecifiedMatching OMIM:300766 NKAP skos:exactMatch ncbigene:79576 semapv:UnspecifiedMatching -OMIM:300767 RPA4 skos:exactMatch hgnc:RPA4 semapv:UnspecifiedMatching +OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:30305 semapv:UnspecifiedMatching +OMIM:300767 RPA4 skos:exactMatch hgnc.symbol:RPA4 semapv:UnspecifiedMatching OMIM:300767 RPA4 skos:exactMatch ncbigene:29935 semapv:UnspecifiedMatching -OMIM:300768 CYLC1 skos:exactMatch hgnc:CYLC1 semapv:UnspecifiedMatching +OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:2582 semapv:UnspecifiedMatching +OMIM:300768 CYLC1 skos:exactMatch hgnc.symbol:CYLC1 semapv:UnspecifiedMatching OMIM:300768 CYLC1 skos:exactMatch ncbigene:1538 semapv:UnspecifiedMatching -OMIM:300769 MIR224 skos:exactMatch hgnc:MIR224 semapv:UnspecifiedMatching +OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:31604 semapv:UnspecifiedMatching +OMIM:300769 MIR224 skos:exactMatch hgnc.symbol:MIR224 semapv:UnspecifiedMatching OMIM:300769 MIR224 skos:exactMatch ncbigene:407009 semapv:UnspecifiedMatching -OMIM:300771 TCEAL7 skos:exactMatch hgnc:TCEAL7 semapv:UnspecifiedMatching +OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:28336 semapv:UnspecifiedMatching +OMIM:300771 TCEAL7 skos:exactMatch hgnc.symbol:TCEAL7 semapv:UnspecifiedMatching OMIM:300771 TCEAL7 skos:exactMatch ncbigene:56849 semapv:UnspecifiedMatching -OMIM:300772 TFDP3 skos:exactMatch hgnc:TFDP3 semapv:UnspecifiedMatching +OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:24603 semapv:UnspecifiedMatching +OMIM:300772 TFDP3 skos:exactMatch hgnc.symbol:TFDP3 semapv:UnspecifiedMatching OMIM:300772 TFDP3 skos:exactMatch ncbigene:51270 semapv:UnspecifiedMatching -OMIM:300773 APEX2 skos:exactMatch hgnc:APEX2 semapv:UnspecifiedMatching +OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:17889 semapv:UnspecifiedMatching +OMIM:300773 APEX2 skos:exactMatch hgnc.symbol:APEX2 semapv:UnspecifiedMatching OMIM:300773 APEX2 skos:exactMatch ncbigene:27301 semapv:UnspecifiedMatching -OMIM:300774 RAB39B skos:exactMatch hgnc:RAB39B semapv:UnspecifiedMatching +OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:16499 semapv:UnspecifiedMatching +OMIM:300774 RAB39B skos:exactMatch hgnc.symbol:RAB39B semapv:UnspecifiedMatching OMIM:300774 RAB39B skos:exactMatch ncbigene:116442 semapv:UnspecifiedMatching -OMIM:300775 ELF4 skos:exactMatch hgnc:ELF4 semapv:UnspecifiedMatching +OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:3319 semapv:UnspecifiedMatching +OMIM:300775 ELF4 skos:exactMatch hgnc.symbol:ELF4 semapv:UnspecifiedMatching OMIM:300775 ELF4 skos:exactMatch ncbigene:2000 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch UMLS:C1823172 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching -OMIM:300776 ALG13 skos:exactMatch hgnc:ALG13 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:30881 semapv:UnspecifiedMatching +OMIM:300776 ALG13 skos:exactMatch hgnc.symbol:ALG13 semapv:UnspecifiedMatching OMIM:300776 ALG13 skos:exactMatch ncbigene:79868 semapv:UnspecifiedMatching -OMIM:300777 TMLHE skos:exactMatch hgnc:TMLHE semapv:UnspecifiedMatching +OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:18308 semapv:UnspecifiedMatching +OMIM:300777 TMLHE skos:exactMatch hgnc.symbol:TMLHE semapv:UnspecifiedMatching OMIM:300777 TMLHE skos:exactMatch ncbigene:55217 semapv:UnspecifiedMatching +OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching -OMIM:300778 corneal dystrophy, lisch epithelial skos:exactMatch orphanet.ordo:98955 semapv:UnspecifiedMatching -OMIM:300780 CT47A1 skos:exactMatch hgnc:CT47A1 semapv:UnspecifiedMatching +OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:33282 semapv:UnspecifiedMatching +OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:CT47A1 semapv:UnspecifiedMatching OMIM:300780 CT47A1 skos:exactMatch ncbigene:728096 semapv:UnspecifiedMatching -OMIM:300781 CT47A2 skos:exactMatch hgnc:CT47A2 semapv:UnspecifiedMatching +OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:33283 semapv:UnspecifiedMatching +OMIM:300781 CT47A2 skos:exactMatch hgnc.symbol:CT47A2 semapv:UnspecifiedMatching OMIM:300781 CT47A2 skos:exactMatch ncbigene:728090 semapv:UnspecifiedMatching -OMIM:300782 CT47A3 skos:exactMatch hgnc:CT47A3 semapv:UnspecifiedMatching +OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:33284 semapv:UnspecifiedMatching +OMIM:300782 CT47A3 skos:exactMatch hgnc.symbol:CT47A3 semapv:UnspecifiedMatching OMIM:300782 CT47A3 skos:exactMatch ncbigene:728082 semapv:UnspecifiedMatching -OMIM:300783 CT47A4 skos:exactMatch hgnc:CT47A4 semapv:UnspecifiedMatching +OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:33285 semapv:UnspecifiedMatching +OMIM:300783 CT47A4 skos:exactMatch hgnc.symbol:CT47A4 semapv:UnspecifiedMatching OMIM:300783 CT47A4 skos:exactMatch ncbigene:728075 semapv:UnspecifiedMatching -OMIM:300784 CT47A5 skos:exactMatch hgnc:CT47A5 semapv:UnspecifiedMatching +OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:33286 semapv:UnspecifiedMatching +OMIM:300784 CT47A5 skos:exactMatch hgnc.symbol:CT47A5 semapv:UnspecifiedMatching OMIM:300784 CT47A5 skos:exactMatch ncbigene:728072 semapv:UnspecifiedMatching -OMIM:300785 CT47A6 skos:exactMatch hgnc:CT47A6 semapv:UnspecifiedMatching +OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:33287 semapv:UnspecifiedMatching +OMIM:300785 CT47A6 skos:exactMatch hgnc.symbol:CT47A6 semapv:UnspecifiedMatching OMIM:300785 CT47A6 skos:exactMatch ncbigene:728062 semapv:UnspecifiedMatching -OMIM:300786 CT47A7 skos:exactMatch hgnc:CT47A7 semapv:UnspecifiedMatching +OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:33288 semapv:UnspecifiedMatching +OMIM:300786 CT47A7 skos:exactMatch hgnc.symbol:CT47A7 semapv:UnspecifiedMatching OMIM:300786 CT47A7 skos:exactMatch ncbigene:653282 semapv:UnspecifiedMatching -OMIM:300787 CT47A8 skos:exactMatch hgnc:CT47A8 semapv:UnspecifiedMatching +OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:33289 semapv:UnspecifiedMatching +OMIM:300787 CT47A8 skos:exactMatch hgnc.symbol:CT47A8 semapv:UnspecifiedMatching OMIM:300787 CT47A8 skos:exactMatch ncbigene:728049 semapv:UnspecifiedMatching -OMIM:300788 CT47A9 skos:exactMatch hgnc:CT47A9 semapv:UnspecifiedMatching +OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:33290 semapv:UnspecifiedMatching +OMIM:300788 CT47A9 skos:exactMatch hgnc.symbol:CT47A9 semapv:UnspecifiedMatching OMIM:300788 CT47A9 skos:exactMatch ncbigene:728042 semapv:UnspecifiedMatching -OMIM:300789 CT47A10 skos:exactMatch hgnc:CT47A10 semapv:UnspecifiedMatching +OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:33291 semapv:UnspecifiedMatching +OMIM:300789 CT47A10 skos:exactMatch hgnc.symbol:CT47A10 semapv:UnspecifiedMatching OMIM:300789 CT47A10 skos:exactMatch ncbigene:728036 semapv:UnspecifiedMatching -OMIM:300790 CT47B1 skos:exactMatch hgnc:CT47B1 semapv:UnspecifiedMatching +OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:33293 semapv:UnspecifiedMatching +OMIM:300790 CT47B1 skos:exactMatch hgnc.symbol:CT47B1 semapv:UnspecifiedMatching OMIM:300790 CT47B1 skos:exactMatch ncbigene:643311 semapv:UnspecifiedMatching -OMIM:300791 NRK skos:exactMatch hgnc:NRK semapv:UnspecifiedMatching +OMIM:300791 NRK skos:exactMatch hgnc.symbol:25391 semapv:UnspecifiedMatching +OMIM:300791 NRK skos:exactMatch hgnc.symbol:NRK semapv:UnspecifiedMatching OMIM:300791 NRK skos:exactMatch ncbigene:203447 semapv:UnspecifiedMatching OMIM:300792 MIR106A skos:exactMatch UMLS:C1537763 semapv:UnspecifiedMatching -OMIM:300792 MIR106A skos:exactMatch hgnc:MIR106A semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:31494 semapv:UnspecifiedMatching +OMIM:300792 MIR106A skos:exactMatch hgnc.symbol:MIR106A semapv:UnspecifiedMatching OMIM:300792 MIR106A skos:exactMatch ncbigene:406899 semapv:UnspecifiedMatching -OMIM:300793 CT45A2 skos:exactMatch hgnc:CT45A2 semapv:UnspecifiedMatching +OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:28400 semapv:UnspecifiedMatching +OMIM:300793 CT45A2 skos:exactMatch hgnc.symbol:CT45A2 semapv:UnspecifiedMatching OMIM:300793 CT45A2 skos:exactMatch ncbigene:728911 semapv:UnspecifiedMatching -OMIM:300794 CT45A3 skos:exactMatch hgnc:CT45A3 semapv:UnspecifiedMatching +OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:33268 semapv:UnspecifiedMatching +OMIM:300794 CT45A3 skos:exactMatch hgnc.symbol:CT45A3 semapv:UnspecifiedMatching OMIM:300794 CT45A3 skos:exactMatch ncbigene:441519 semapv:UnspecifiedMatching -OMIM:300796 CT45A5 skos:exactMatch hgnc:CT45A5 semapv:UnspecifiedMatching +OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:33270 semapv:UnspecifiedMatching +OMIM:300796 CT45A5 skos:exactMatch hgnc.symbol:CT45A5 semapv:UnspecifiedMatching OMIM:300796 CT45A5 skos:exactMatch ncbigene:441521 semapv:UnspecifiedMatching -OMIM:300797 CT45A6 skos:exactMatch hgnc:CT45A6 semapv:UnspecifiedMatching +OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:33271 semapv:UnspecifiedMatching +OMIM:300797 CT45A6 skos:exactMatch hgnc.symbol:CT45A6 semapv:UnspecifiedMatching OMIM:300797 CT45A6 skos:exactMatch ncbigene:541465 semapv:UnspecifiedMatching -OMIM:300798 PHKA2 skos:exactMatch hgnc:PHKA2 semapv:UnspecifiedMatching +OMIM:300798 PHKA2 skos:exactMatch hgnc.symbol:8926 semapv:UnspecifiedMatching +OMIM:300798 PHKA2 skos:exactMatch hgnc.symbol:PHKA2 semapv:UnspecifiedMatching OMIM:300798 PHKA2 skos:exactMatch ncbigene:5256 semapv:UnspecifiedMatching +OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:163953 semapv:UnspecifiedMatching +OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch UMLS:C3275406 semapv:UnspecifiedMatching -OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch orphanet.ordo:163953 semapv:UnspecifiedMatching -OMIM:300799 intellectual developmental disorder, x-linked, syndromic, raymond iia skos:exactMatch orphanet.ordo:776 semapv:UnspecifiedMatching -OMIM:300805 FMR1AS1 skos:exactMatch hgnc:FMR1-AS1 semapv:UnspecifiedMatching +OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:39081 semapv:UnspecifiedMatching +OMIM:300805 FMR1AS1 skos:exactMatch hgnc.symbol:FMR1-AS1 semapv:UnspecifiedMatching OMIM:300805 FMR1AS1 skos:exactMatch ncbigene:100126270 semapv:UnspecifiedMatching -OMIM:300806 AFF2 skos:exactMatch hgnc:AFF2 semapv:UnspecifiedMatching +OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:3776 semapv:UnspecifiedMatching +OMIM:300806 AFF2 skos:exactMatch hgnc.symbol:AFF2 semapv:UnspecifiedMatching OMIM:300806 AFF2 skos:exactMatch ncbigene:2334 semapv:UnspecifiedMatching OMIM:300807 thrombophilia, x-linked, due to factor 9 defect skos:exactMatch UMLS:C2749016 semapv:UnspecifiedMatching -OMIM:300808 GPR143 skos:exactMatch hgnc:GPR143 semapv:UnspecifiedMatching +OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:20145 semapv:UnspecifiedMatching +OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:GPR143 semapv:UnspecifiedMatching OMIM:300808 GPR143 skos:exactMatch ncbigene:4935 semapv:UnspecifiedMatching -OMIM:300810 MIR98 skos:exactMatch hgnc:MIR98 semapv:UnspecifiedMatching +OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:31649 semapv:UnspecifiedMatching +OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:MIR98 semapv:UnspecifiedMatching OMIM:300810 MIR98 skos:exactMatch ncbigene:407054 semapv:UnspecifiedMatching -OMIM:300811 MIR105-1 skos:exactMatch hgnc:MIR105-1 semapv:UnspecifiedMatching +OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:31492 semapv:UnspecifiedMatching +OMIM:300811 MIR105-1 skos:exactMatch hgnc.symbol:MIR105-1 semapv:UnspecifiedMatching OMIM:300811 MIR105-1 skos:exactMatch ncbigene:406897 semapv:UnspecifiedMatching -OMIM:300812 MIR105-2 skos:exactMatch hgnc:MIR105-2 semapv:UnspecifiedMatching +OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:31493 semapv:UnspecifiedMatching +OMIM:300812 MIR105-2 skos:exactMatch hgnc.symbol:MIR105-2 semapv:UnspecifiedMatching OMIM:300812 MIR105-2 skos:exactMatch ncbigene:406898 semapv:UnspecifiedMatching OMIM:300814 nystagmus 6, congenital, X-linked skos:exactMatch UMLS:C3151752 semapv:UnspecifiedMatching -OMIM:300817 EFHC2 skos:exactMatch hgnc:EFHC2 semapv:UnspecifiedMatching +OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:26233 semapv:UnspecifiedMatching +OMIM:300817 EFHC2 skos:exactMatch hgnc.symbol:EFHC2 semapv:UnspecifiedMatching OMIM:300817 EFHC2 skos:exactMatch ncbigene:80258 semapv:UnspecifiedMatching +OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch Orphanet:447 semapv:UnspecifiedMatching OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch UMLS:C3806670 semapv:UnspecifiedMatching -OMIM:300818 paroxysmal nocturnal hemoglobinuria 1 skos:exactMatch orphanet.ordo:447 semapv:UnspecifiedMatching -OMIM:300819 ZNF630 skos:exactMatch hgnc:ZNF630 semapv:UnspecifiedMatching +OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:28855 semapv:UnspecifiedMatching +OMIM:300819 ZNF630 skos:exactMatch hgnc.symbol:ZNF630 semapv:UnspecifiedMatching OMIM:300819 ZNF630 skos:exactMatch ncbigene:57232 semapv:UnspecifiedMatching -OMIM:300820 MAP3K15 skos:exactMatch hgnc:MAP3K15 semapv:UnspecifiedMatching +OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:31689 semapv:UnspecifiedMatching +OMIM:300820 MAP3K15 skos:exactMatch hgnc.symbol:MAP3K15 semapv:UnspecifiedMatching OMIM:300820 MAP3K15 skos:exactMatch ncbigene:389840 semapv:UnspecifiedMatching -OMIM:300821 OPN1MW skos:exactMatch hgnc:OPN1MW semapv:UnspecifiedMatching +OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:4206 semapv:UnspecifiedMatching +OMIM:300821 OPN1MW skos:exactMatch hgnc.symbol:OPN1MW semapv:UnspecifiedMatching OMIM:300821 OPN1MW skos:exactMatch ncbigene:2652 semapv:UnspecifiedMatching -OMIM:300822 OPN1LW skos:exactMatch hgnc:OPN1LW semapv:UnspecifiedMatching +OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:9936 semapv:UnspecifiedMatching +OMIM:300822 OPN1LW skos:exactMatch hgnc.symbol:OPN1LW semapv:UnspecifiedMatching OMIM:300822 OPN1LW skos:exactMatch ncbigene:5956 semapv:UnspecifiedMatching -OMIM:300823 IDS skos:exactMatch hgnc:IDS semapv:UnspecifiedMatching +OMIM:300823 IDS skos:exactMatch hgnc.symbol:5389 semapv:UnspecifiedMatching +OMIM:300823 IDS skos:exactMatch hgnc.symbol:IDS semapv:UnspecifiedMatching OMIM:300823 IDS skos:exactMatch ncbigene:3423 semapv:UnspecifiedMatching OMIM:300824 opn1lw and opn1mw genes, controller of skos:exactMatch ncbigene:107604627 semapv:UnspecifiedMatching -OMIM:300825 RBBP7 skos:exactMatch hgnc:RBBP7 semapv:UnspecifiedMatching +OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:9890 semapv:UnspecifiedMatching +OMIM:300825 RBBP7 skos:exactMatch hgnc.symbol:RBBP7 semapv:UnspecifiedMatching OMIM:300825 RBBP7 skos:exactMatch ncbigene:5931 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C1420449 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching -OMIM:300826 STAG2 skos:exactMatch hgnc:STAG2 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:11355 semapv:UnspecifiedMatching +OMIM:300826 STAG2 skos:exactMatch hgnc.symbol:STAG2 semapv:UnspecifiedMatching OMIM:300826 STAG2 skos:exactMatch ncbigene:10735 semapv:UnspecifiedMatching -OMIM:300827 FGF16 skos:exactMatch hgnc:FGF16 semapv:UnspecifiedMatching +OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:3672 semapv:UnspecifiedMatching +OMIM:300827 FGF16 skos:exactMatch hgnc.symbol:FGF16 semapv:UnspecifiedMatching OMIM:300827 FGF16 skos:exactMatch ncbigene:8823 semapv:UnspecifiedMatching -OMIM:300828 PTCHD1 skos:exactMatch hgnc:PTCHD1 semapv:UnspecifiedMatching +OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:26392 semapv:UnspecifiedMatching +OMIM:300828 PTCHD1 skos:exactMatch hgnc.symbol:PTCHD1 semapv:UnspecifiedMatching OMIM:300828 PTCHD1 skos:exactMatch ncbigene:139411 semapv:UnspecifiedMatching +OMIM:300831 ck syndrome skos:exactMatch Orphanet:251383 semapv:UnspecifiedMatching OMIM:300831 ck syndrome skos:exactMatch UMLS:C3151781 semapv:UnspecifiedMatching -OMIM:300831 ck syndrome skos:exactMatch orphanet.ordo:251383 semapv:UnspecifiedMatching -OMIM:300832 JPX skos:exactMatch hgnc:JPX semapv:UnspecifiedMatching +OMIM:300832 JPX skos:exactMatch hgnc.symbol:37191 semapv:UnspecifiedMatching +OMIM:300832 JPX skos:exactMatch hgnc.symbol:JPX semapv:UnspecifiedMatching OMIM:300832 JPX skos:exactMatch ncbigene:554203 semapv:UnspecifiedMatching +OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch Orphanet:363727 semapv:UnspecifiedMatching OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch UMLS:C3550856 semapv:UnspecifiedMatching -OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities skos:exactMatch orphanet.ordo:363727 semapv:UnspecifiedMatching OMIM:300836 ANOS1 skos:exactMatch UMLS:C1416536 semapv:UnspecifiedMatching OMIM:300836 ANOS1 skos:exactMatch UMLS:C4016502 semapv:UnspecifiedMatching -OMIM:300836 ANOS1 skos:exactMatch hgnc:ANOS1 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:6211 semapv:UnspecifiedMatching +OMIM:300836 ANOS1 skos:exactMatch hgnc.symbol:ANOS1 semapv:UnspecifiedMatching OMIM:300836 ANOS1 skos:exactMatch ncbigene:3730 semapv:UnspecifiedMatching -OMIM:300837 DGKK skos:exactMatch hgnc:DGKK semapv:UnspecifiedMatching +OMIM:300837 DGKK skos:exactMatch hgnc.symbol:32395 semapv:UnspecifiedMatching +OMIM:300837 DGKK skos:exactMatch hgnc.symbol:DGKK semapv:UnspecifiedMatching OMIM:300837 DGKK skos:exactMatch ncbigene:139189 semapv:UnspecifiedMatching -OMIM:300838 FRMPD4 skos:exactMatch hgnc:FRMPD4 semapv:UnspecifiedMatching +OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:29007 semapv:UnspecifiedMatching +OMIM:300838 FRMPD4 skos:exactMatch hgnc.symbol:FRMPD4 semapv:UnspecifiedMatching OMIM:300838 FRMPD4 skos:exactMatch ncbigene:9758 semapv:UnspecifiedMatching -OMIM:300839 RS1 skos:exactMatch hgnc:RS1 semapv:UnspecifiedMatching +OMIM:300839 RS1 skos:exactMatch hgnc.symbol:10457 semapv:UnspecifiedMatching +OMIM:300839 RS1 skos:exactMatch hgnc.symbol:RS1 semapv:UnspecifiedMatching OMIM:300839 RS1 skos:exactMatch ncbigene:6247 semapv:UnspecifiedMatching -OMIM:300840 PRAF2 skos:exactMatch hgnc:PRAF2 semapv:UnspecifiedMatching +OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:28911 semapv:UnspecifiedMatching +OMIM:300840 PRAF2 skos:exactMatch hgnc.symbol:PRAF2 semapv:UnspecifiedMatching OMIM:300840 PRAF2 skos:exactMatch ncbigene:11230 semapv:UnspecifiedMatching -OMIM:300841 F8 skos:exactMatch hgnc:F8 semapv:UnspecifiedMatching +OMIM:300841 F8 skos:exactMatch hgnc.symbol:3546 semapv:UnspecifiedMatching +OMIM:300841 F8 skos:exactMatch hgnc.symbol:F8 semapv:UnspecifiedMatching OMIM:300841 F8 skos:exactMatch ncbigene:2157 semapv:UnspecifiedMatching -OMIM:300846 CD99L2 skos:exactMatch hgnc:CD99L2 semapv:UnspecifiedMatching +OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:18237 semapv:UnspecifiedMatching +OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:CD99L2 semapv:UnspecifiedMatching OMIM:300846 CD99L2 skos:exactMatch ncbigene:83692 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch UMLS:C1824547 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching -OMIM:300859 CCDC22 skos:exactMatch hgnc:CCDC22 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:28909 semapv:UnspecifiedMatching +OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:CCDC22 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch ncbigene:28952 semapv:UnspecifiedMatching -OMIM:300862 ACOT9 skos:exactMatch hgnc:ACOT9 semapv:UnspecifiedMatching +OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:17152 semapv:UnspecifiedMatching +OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:ACOT9 semapv:UnspecifiedMatching OMIM:300862 ACOT9 skos:exactMatch ncbigene:23597 semapv:UnspecifiedMatching -OMIM:300865 MIR503 skos:exactMatch hgnc:MIR503 semapv:UnspecifiedMatching +OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:32138 semapv:UnspecifiedMatching +OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:MIR503 semapv:UnspecifiedMatching OMIM:300865 MIR503 skos:exactMatch ncbigene:574506 semapv:UnspecifiedMatching -OMIM:300866 MIR510 skos:exactMatch hgnc:MIR510 semapv:UnspecifiedMatching +OMIM:300866 MIR510 skos:exactMatch hgnc.symbol:32147 semapv:UnspecifiedMatching +OMIM:300866 MIR510 skos:exactMatch hgnc.symbol:MIR510 semapv:UnspecifiedMatching OMIM:300866 MIR510 skos:exactMatch ncbigene:574515 semapv:UnspecifiedMatching +OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 semapv:UnspecifiedMatching OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching -OMIM:300868 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch orphanet.ordo:300496 semapv:UnspecifiedMatching -OMIM:300871 FUNDC1 skos:exactMatch hgnc:FUNDC1 semapv:UnspecifiedMatching +OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:28746 semapv:UnspecifiedMatching +OMIM:300871 FUNDC1 skos:exactMatch hgnc.symbol:FUNDC1 semapv:UnspecifiedMatching OMIM:300871 FUNDC1 skos:exactMatch ncbigene:139341 semapv:UnspecifiedMatching -OMIM:300873 GNL3L skos:exactMatch hgnc:GNL3L semapv:UnspecifiedMatching +OMIM:300873 GNL3L skos:exactMatch hgnc.symbol:25553 semapv:UnspecifiedMatching +OMIM:300873 GNL3L skos:exactMatch hgnc.symbol:GNL3L semapv:UnspecifiedMatching OMIM:300873 GNL3L skos:exactMatch ncbigene:54552 semapv:UnspecifiedMatching -OMIM:300874 MIR508 skos:exactMatch hgnc:MIR508 semapv:UnspecifiedMatching +OMIM:300874 MIR508 skos:exactMatch hgnc.symbol:32145 semapv:UnspecifiedMatching +OMIM:300874 MIR508 skos:exactMatch hgnc.symbol:MIR508 semapv:UnspecifiedMatching OMIM:300874 MIR508 skos:exactMatch ncbigene:574513 semapv:UnspecifiedMatching -OMIM:300875 MIR509-1 skos:exactMatch hgnc:MIR509-1 semapv:UnspecifiedMatching +OMIM:300875 MIR509-1 skos:exactMatch hgnc.symbol:32146 semapv:UnspecifiedMatching +OMIM:300875 MIR509-1 skos:exactMatch hgnc.symbol:MIR509-1 semapv:UnspecifiedMatching OMIM:300875 MIR509-1 skos:exactMatch ncbigene:574514 semapv:UnspecifiedMatching -OMIM:300876 MIR509-3 skos:exactMatch hgnc:MIR509-3 semapv:UnspecifiedMatching +OMIM:300876 MIR509-3 skos:exactMatch hgnc.symbol:33675 semapv:UnspecifiedMatching +OMIM:300876 MIR509-3 skos:exactMatch hgnc.symbol:MIR509-3 semapv:UnspecifiedMatching OMIM:300876 MIR509-3 skos:exactMatch ncbigene:100126337 semapv:UnspecifiedMatching -OMIM:300877 MIR506 skos:exactMatch hgnc:MIR506 semapv:UnspecifiedMatching +OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:32143 semapv:UnspecifiedMatching +OMIM:300877 MIR506 skos:exactMatch hgnc.symbol:MIR506 semapv:UnspecifiedMatching OMIM:300877 MIR506 skos:exactMatch ncbigene:574511 semapv:UnspecifiedMatching -OMIM:300878 DMRTC1 skos:exactMatch hgnc:DMRTC1 semapv:UnspecifiedMatching +OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:13910 semapv:UnspecifiedMatching +OMIM:300878 DMRTC1 skos:exactMatch hgnc.symbol:DMRTC1 semapv:UnspecifiedMatching OMIM:300878 DMRTC1 skos:exactMatch ncbigene:63947 semapv:UnspecifiedMatching -OMIM:300879 XG skos:exactMatch hgnc:XG semapv:UnspecifiedMatching +OMIM:300879 XG skos:exactMatch hgnc.symbol:12806 semapv:UnspecifiedMatching +OMIM:300879 XG skos:exactMatch hgnc.symbol:XG semapv:UnspecifiedMatching OMIM:300879 XG skos:exactMatch ncbigene:7499 semapv:UnspecifiedMatching -OMIM:300880 PSMD10 skos:exactMatch hgnc:PSMD10 semapv:UnspecifiedMatching +OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:9555 semapv:UnspecifiedMatching +OMIM:300880 PSMD10 skos:exactMatch hgnc.symbol:PSMD10 semapv:UnspecifiedMatching OMIM:300880 PSMD10 skos:exactMatch ncbigene:5716 semapv:UnspecifiedMatching +OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch UMLS:C3550903 semapv:UnspecifiedMatching -OMIM:300882 cornelia lange lange syndrome 5 skos:exactMatch orphanet.ordo:199 semapv:UnspecifiedMatching -OMIM:300883 SNX12 skos:exactMatch hgnc:SNX12 semapv:UnspecifiedMatching +OMIM:300883 SNX12 skos:exactMatch hgnc.symbol:14976 semapv:UnspecifiedMatching +OMIM:300883 SNX12 skos:exactMatch hgnc.symbol:SNX12 semapv:UnspecifiedMatching OMIM:300883 SNX12 skos:exactMatch ncbigene:29934 semapv:UnspecifiedMatching +OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch Orphanet:324422 semapv:UnspecifiedMatching OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch UMLS:C3550904 semapv:UnspecifiedMatching OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch UMLS:C4317295 semapv:UnspecifiedMatching -OMIM:300884 developmental and epileptic encephalopathy 36 skos:exactMatch orphanet.ordo:324422 semapv:UnspecifiedMatching -OMIM:300885 COX7B skos:exactMatch hgnc:COX7B semapv:UnspecifiedMatching +OMIM:300885 COX7B skos:exactMatch hgnc.symbol:2291 semapv:UnspecifiedMatching +OMIM:300885 COX7B skos:exactMatch hgnc.symbol:COX7B semapv:UnspecifiedMatching OMIM:300885 COX7B skos:exactMatch ncbigene:1349 semapv:UnspecifiedMatching +OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch Orphanet:329235 semapv:UnspecifiedMatching OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch UMLS:C3550963 semapv:UnspecifiedMatching -OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch orphanet.ordo:329235 semapv:UnspecifiedMatching -OMIM:300889 ZC3H12B skos:exactMatch hgnc:ZC3H12B semapv:UnspecifiedMatching +OMIM:300889 ZC3H12B skos:exactMatch hgnc.symbol:17407 semapv:UnspecifiedMatching +OMIM:300889 ZC3H12B skos:exactMatch hgnc.symbol:ZC3H12B semapv:UnspecifiedMatching OMIM:300889 ZC3H12B skos:exactMatch ncbigene:340554 semapv:UnspecifiedMatching -OMIM:300890 ASB9 skos:exactMatch hgnc:ASB9 semapv:UnspecifiedMatching +OMIM:300890 ASB9 skos:exactMatch hgnc.symbol:17184 semapv:UnspecifiedMatching +OMIM:300890 ASB9 skos:exactMatch hgnc.symbol:ASB9 semapv:UnspecifiedMatching OMIM:300890 ASB9 skos:exactMatch ncbigene:140462 semapv:UnspecifiedMatching -OMIM:300891 ASB12 skos:exactMatch hgnc:ASB12 semapv:UnspecifiedMatching +OMIM:300891 ASB12 skos:exactMatch hgnc.symbol:19763 semapv:UnspecifiedMatching +OMIM:300891 ASB12 skos:exactMatch hgnc.symbol:ASB12 semapv:UnspecifiedMatching OMIM:300891 ASB12 skos:exactMatch ncbigene:142689 semapv:UnspecifiedMatching -OMIM:300892 LINC00850 skos:exactMatch hgnc:LINC00850 semapv:UnspecifiedMatching +OMIM:300892 LINC00850 skos:exactMatch hgnc.symbol:45092 semapv:UnspecifiedMatching +OMIM:300892 LINC00850 skos:exactMatch hgnc.symbol:LINC00850 semapv:UnspecifiedMatching OMIM:300892 LINC00850 skos:exactMatch ncbigene:101241891 semapv:UnspecifiedMatching -OMIM:300893 MIR502 skos:exactMatch hgnc:MIR502 semapv:UnspecifiedMatching +OMIM:300893 MIR502 skos:exactMatch hgnc.symbol:32136 semapv:UnspecifiedMatching +OMIM:300893 MIR502 skos:exactMatch hgnc.symbol:MIR502 semapv:UnspecifiedMatching OMIM:300893 MIR502 skos:exactMatch ncbigene:574504 semapv:UnspecifiedMatching +OMIM:300895 ohdo syndrome, X-linked skos:exactMatch Orphanet:293707 semapv:UnspecifiedMatching OMIM:300895 ohdo syndrome, X-linked skos:exactMatch UMLS:C3698541 semapv:UnspecifiedMatching -OMIM:300895 ohdo syndrome, X-linked skos:exactMatch orphanet.ordo:293707 semapv:UnspecifiedMatching +OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch Orphanet:356961 semapv:UnspecifiedMatching OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching -OMIM:300896 congenital disorder of glycosylation, iia iim skos:exactMatch orphanet.ordo:356961 semapv:UnspecifiedMatching OMIM:300897 ZC4H2 skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching OMIM:300897 ZC4H2 skos:exactMatch UMLS:C1537464 semapv:UnspecifiedMatching OMIM:300897 ZC4H2 skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching -OMIM:300897 ZC4H2 skos:exactMatch hgnc:ZC4H2 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:24931 semapv:UnspecifiedMatching +OMIM:300897 ZC4H2 skos:exactMatch hgnc.symbol:ZC4H2 semapv:UnspecifiedMatching OMIM:300897 ZC4H2 skos:exactMatch ncbigene:55906 semapv:UnspecifiedMatching -OMIM:300898 CDR1AS skos:exactMatch hgnc:CDR1-AS semapv:UnspecifiedMatching +OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:48926 semapv:UnspecifiedMatching +OMIM:300898 CDR1AS skos:exactMatch hgnc.symbol:CDR1-AS semapv:UnspecifiedMatching OMIM:300898 CDR1AS skos:exactMatch ncbigene:103611090 semapv:UnspecifiedMatching -OMIM:300899 RPL39 skos:exactMatch hgnc:RPL39 semapv:UnspecifiedMatching +OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:10350 semapv:UnspecifiedMatching +OMIM:300899 RPL39 skos:exactMatch hgnc.symbol:RPL39 semapv:UnspecifiedMatching OMIM:300899 RPL39 skos:exactMatch ncbigene:6170 semapv:UnspecifiedMatching -OMIM:300901 XACT skos:exactMatch hgnc:XACT semapv:UnspecifiedMatching +OMIM:300901 XACT skos:exactMatch hgnc.symbol:45056 semapv:UnspecifiedMatching +OMIM:300901 XACT skos:exactMatch hgnc.symbol:XACT semapv:UnspecifiedMatching OMIM:300901 XACT skos:exactMatch ncbigene:105463123 semapv:UnspecifiedMatching -OMIM:300902 RPL36A skos:exactMatch hgnc:RPL36A semapv:UnspecifiedMatching +OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:10359 semapv:UnspecifiedMatching +OMIM:300902 RPL36A skos:exactMatch hgnc.symbol:RPL36A semapv:UnspecifiedMatching OMIM:300902 RPL36A skos:exactMatch ncbigene:6173 semapv:UnspecifiedMatching OMIM:300903 GPR174 skos:exactMatch UMLS:C1539610 semapv:UnspecifiedMatching -OMIM:300903 GPR174 skos:exactMatch hgnc:GPR174 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:30245 semapv:UnspecifiedMatching +OMIM:300903 GPR174 skos:exactMatch hgnc.symbol:GPR174 semapv:UnspecifiedMatching OMIM:300903 GPR174 skos:exactMatch ncbigene:84636 semapv:UnspecifiedMatching -OMIM:300904 IRS4 skos:exactMatch hgnc:IRS4 semapv:UnspecifiedMatching +OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:6128 semapv:UnspecifiedMatching +OMIM:300904 IRS4 skos:exactMatch hgnc.symbol:IRS4 semapv:UnspecifiedMatching OMIM:300904 IRS4 skos:exactMatch ncbigene:8471 semapv:UnspecifiedMatching -OMIM:300906 PDK3 skos:exactMatch hgnc:PDK3 semapv:UnspecifiedMatching +OMIM:300906 PDK3 skos:exactMatch hgnc.symbol:8811 semapv:UnspecifiedMatching +OMIM:300906 PDK3 skos:exactMatch hgnc.symbol:PDK3 semapv:UnspecifiedMatching OMIM:300906 PDK3 skos:exactMatch ncbigene:5165 semapv:UnspecifiedMatching -OMIM:300907 CSTF2 skos:exactMatch hgnc:CSTF2 semapv:UnspecifiedMatching +OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:2484 semapv:UnspecifiedMatching +OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:CSTF2 semapv:UnspecifiedMatching OMIM:300907 CSTF2 skos:exactMatch ncbigene:1478 semapv:UnspecifiedMatching -OMIM:300913 VMA21 skos:exactMatch hgnc:VMA21 semapv:UnspecifiedMatching +OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:22082 semapv:UnspecifiedMatching +OMIM:300913 VMA21 skos:exactMatch hgnc.symbol:VMA21 semapv:UnspecifiedMatching OMIM:300913 VMA21 skos:exactMatch ncbigene:203547 semapv:UnspecifiedMatching -OMIM:300916 PNMA5 skos:exactMatch hgnc:PNMA5 semapv:UnspecifiedMatching +OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:18743 semapv:UnspecifiedMatching +OMIM:300916 PNMA5 skos:exactMatch hgnc.symbol:PNMA5 semapv:UnspecifiedMatching OMIM:300916 PNMA5 skos:exactMatch ncbigene:114824 semapv:UnspecifiedMatching -OMIM:300917 PNMA6A skos:exactMatch hgnc:PNMA6A semapv:UnspecifiedMatching +OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:28248 semapv:UnspecifiedMatching +OMIM:300917 PNMA6A skos:exactMatch hgnc.symbol:PNMA6A semapv:UnspecifiedMatching OMIM:300917 PNMA6A skos:exactMatch ncbigene:84968 semapv:UnspecifiedMatching -OMIM:300920 ATXN3L skos:exactMatch hgnc:ATXN3L semapv:UnspecifiedMatching +OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:24173 semapv:UnspecifiedMatching +OMIM:300920 ATXN3L skos:exactMatch hgnc.symbol:ATXN3L semapv:UnspecifiedMatching OMIM:300920 ATXN3L skos:exactMatch ncbigene:92552 semapv:UnspecifiedMatching -OMIM:300921 BHLHB9 skos:exactMatch hgnc:GPRASP3 semapv:UnspecifiedMatching +OMIM:300921 BHLHB9 skos:exactMatch hgnc.symbol:GPRASP3 semapv:UnspecifiedMatching OMIM:300921 BHLHB9 skos:exactMatch ncbigene:80823 semapv:UnspecifiedMatching -OMIM:300922 CHIC1 skos:exactMatch hgnc:CHIC1 semapv:UnspecifiedMatching +OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:1934 semapv:UnspecifiedMatching +OMIM:300922 CHIC1 skos:exactMatch hgnc.symbol:CHIC1 semapv:UnspecifiedMatching OMIM:300922 CHIC1 skos:exactMatch ncbigene:53344 semapv:UnspecifiedMatching -OMIM:300924 AWAT1 skos:exactMatch hgnc:AWAT1 semapv:UnspecifiedMatching +OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:23252 semapv:UnspecifiedMatching +OMIM:300924 AWAT1 skos:exactMatch hgnc.symbol:AWAT1 semapv:UnspecifiedMatching OMIM:300924 AWAT1 skos:exactMatch ncbigene:158833 semapv:UnspecifiedMatching -OMIM:300925 AWAT2 skos:exactMatch hgnc:AWAT2 semapv:UnspecifiedMatching +OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:23251 semapv:UnspecifiedMatching +OMIM:300925 AWAT2 skos:exactMatch hgnc.symbol:AWAT2 semapv:UnspecifiedMatching OMIM:300925 AWAT2 skos:exactMatch ncbigene:158835 semapv:UnspecifiedMatching -OMIM:300926 DGAT2L6 skos:exactMatch hgnc:DGAT2L6 semapv:UnspecifiedMatching +OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:23250 semapv:UnspecifiedMatching +OMIM:300926 DGAT2L6 skos:exactMatch hgnc.symbol:DGAT2L6 semapv:UnspecifiedMatching OMIM:300926 DGAT2L6 skos:exactMatch ncbigene:347516 semapv:UnspecifiedMatching -OMIM:300927 PRDX4 skos:exactMatch hgnc:PRDX4 semapv:UnspecifiedMatching +OMIM:300927 PRDX4 skos:exactMatch hgnc.symbol:17169 semapv:UnspecifiedMatching +OMIM:300927 PRDX4 skos:exactMatch hgnc.symbol:PRDX4 semapv:UnspecifiedMatching OMIM:300927 PRDX4 skos:exactMatch ncbigene:10549 semapv:UnspecifiedMatching -OMIM:300929 MIR718 skos:exactMatch hgnc:MIR718 semapv:UnspecifiedMatching +OMIM:300929 MIR718 skos:exactMatch hgnc.symbol:37317 semapv:UnspecifiedMatching +OMIM:300929 MIR718 skos:exactMatch hgnc.symbol:MIR718 semapv:UnspecifiedMatching OMIM:300929 MIR718 skos:exactMatch ncbigene:100313781 semapv:UnspecifiedMatching -OMIM:300930 MAP7D3 skos:exactMatch hgnc:MAP7D3 semapv:UnspecifiedMatching +OMIM:300930 MAP7D3 skos:exactMatch hgnc.symbol:25742 semapv:UnspecifiedMatching +OMIM:300930 MAP7D3 skos:exactMatch hgnc.symbol:MAP7D3 semapv:UnspecifiedMatching OMIM:300930 MAP7D3 skos:exactMatch ncbigene:79649 semapv:UnspecifiedMatching -OMIM:300931 PIR skos:exactMatch hgnc:PIR semapv:UnspecifiedMatching +OMIM:300931 PIR skos:exactMatch hgnc.symbol:30048 semapv:UnspecifiedMatching +OMIM:300931 PIR skos:exactMatch hgnc.symbol:PIR semapv:UnspecifiedMatching OMIM:300931 PIR skos:exactMatch ncbigene:8544 semapv:UnspecifiedMatching -OMIM:300933 PIH1D3 skos:exactMatch hgnc:DNAAF6 semapv:UnspecifiedMatching +OMIM:300933 PIH1D3 skos:exactMatch hgnc.symbol:28570 semapv:UnspecifiedMatching +OMIM:300933 PIH1D3 skos:exactMatch hgnc.symbol:DNAAF6 semapv:UnspecifiedMatching OMIM:300933 PIH1D3 skos:exactMatch ncbigene:139212 semapv:UnspecifiedMatching -OMIM:300935 PRRG1 skos:exactMatch hgnc:PRRG1 semapv:UnspecifiedMatching +OMIM:300935 PRRG1 skos:exactMatch hgnc.symbol:9469 semapv:UnspecifiedMatching +OMIM:300935 PRRG1 skos:exactMatch hgnc.symbol:PRRG1 semapv:UnspecifiedMatching OMIM:300935 PRRG1 skos:exactMatch ncbigene:5638 semapv:UnspecifiedMatching -OMIM:300936 FTX skos:exactMatch hgnc:FTX semapv:UnspecifiedMatching +OMIM:300936 FTX skos:exactMatch hgnc.symbol:37190 semapv:UnspecifiedMatching +OMIM:300936 FTX skos:exactMatch hgnc.symbol:FTX semapv:UnspecifiedMatching OMIM:300936 FTX skos:exactMatch ncbigene:100302692 semapv:UnspecifiedMatching -OMIM:300937 ARHGAP36 skos:exactMatch hgnc:ARHGAP36 semapv:UnspecifiedMatching +OMIM:300937 ARHGAP36 skos:exactMatch hgnc.symbol:26388 semapv:UnspecifiedMatching +OMIM:300937 ARHGAP36 skos:exactMatch hgnc.symbol:ARHGAP36 semapv:UnspecifiedMatching OMIM:300937 ARHGAP36 skos:exactMatch ncbigene:158763 semapv:UnspecifiedMatching -OMIM:300938 MXRA5 skos:exactMatch hgnc:MXRA5 semapv:UnspecifiedMatching +OMIM:300938 MXRA5 skos:exactMatch hgnc.symbol:7539 semapv:UnspecifiedMatching +OMIM:300938 MXRA5 skos:exactMatch hgnc.symbol:MXRA5 semapv:UnspecifiedMatching OMIM:300938 MXRA5 skos:exactMatch ncbigene:25878 semapv:UnspecifiedMatching -OMIM:300939 TMSB15A skos:exactMatch hgnc:TMSB15A semapv:UnspecifiedMatching +OMIM:300939 TMSB15A skos:exactMatch hgnc.symbol:30744 semapv:UnspecifiedMatching +OMIM:300939 TMSB15A skos:exactMatch hgnc.symbol:TMSB15A semapv:UnspecifiedMatching OMIM:300939 TMSB15A skos:exactMatch ncbigene:11013 semapv:UnspecifiedMatching -OMIM:300940 GDPD2 skos:exactMatch hgnc:GDPD2 semapv:UnspecifiedMatching +OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:25974 semapv:UnspecifiedMatching +OMIM:300940 GDPD2 skos:exactMatch hgnc.symbol:GDPD2 semapv:UnspecifiedMatching OMIM:300940 GDPD2 skos:exactMatch ncbigene:54857 semapv:UnspecifiedMatching -OMIM:300941 SLC25A53 skos:exactMatch hgnc:SLC25A53 semapv:UnspecifiedMatching +OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:31894 semapv:UnspecifiedMatching +OMIM:300941 SLC25A53 skos:exactMatch hgnc.symbol:SLC25A53 semapv:UnspecifiedMatching OMIM:300941 SLC25A53 skos:exactMatch ncbigene:401612 semapv:UnspecifiedMatching -OMIM:300944 CSAG1 skos:exactMatch hgnc:CSAG1 semapv:UnspecifiedMatching +OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:24294 semapv:UnspecifiedMatching +OMIM:300944 CSAG1 skos:exactMatch hgnc.symbol:CSAG1 semapv:UnspecifiedMatching OMIM:300944 CSAG1 skos:exactMatch ncbigene:158511 semapv:UnspecifiedMatching -OMIM:300945 TSR2 skos:exactMatch hgnc:TSR2 semapv:UnspecifiedMatching +OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:25455 semapv:UnspecifiedMatching +OMIM:300945 TSR2 skos:exactMatch hgnc.symbol:TSR2 semapv:UnspecifiedMatching OMIM:300945 TSR2 skos:exactMatch ncbigene:90121 semapv:UnspecifiedMatching -OMIM:300947 CCDC120 skos:exactMatch hgnc:CCDC120 semapv:UnspecifiedMatching +OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:28910 semapv:UnspecifiedMatching +OMIM:300947 CCDC120 skos:exactMatch hgnc.symbol:CCDC120 semapv:UnspecifiedMatching OMIM:300947 CCDC120 skos:exactMatch ncbigene:90060 semapv:UnspecifiedMatching -OMIM:300948 PCYT1B skos:exactMatch hgnc:PCYT1B semapv:UnspecifiedMatching +OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:8755 semapv:UnspecifiedMatching +OMIM:300948 PCYT1B skos:exactMatch hgnc.symbol:PCYT1B semapv:UnspecifiedMatching OMIM:300948 PCYT1B skos:exactMatch ncbigene:9468 semapv:UnspecifiedMatching -OMIM:300949 FOXR2 skos:exactMatch hgnc:FOXR2 semapv:UnspecifiedMatching +OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:30469 semapv:UnspecifiedMatching +OMIM:300949 FOXR2 skos:exactMatch hgnc.symbol:FOXR2 semapv:UnspecifiedMatching OMIM:300949 FOXR2 skos:exactMatch ncbigene:139628 semapv:UnspecifiedMatching -OMIM:300950 MIR20B skos:exactMatch hgnc:MIR20B semapv:UnspecifiedMatching +OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:32024 semapv:UnspecifiedMatching +OMIM:300950 MIR20B skos:exactMatch hgnc.symbol:MIR20B semapv:UnspecifiedMatching OMIM:300950 MIR20B skos:exactMatch ncbigene:574032 semapv:UnspecifiedMatching OMIM:300951 RNF113A skos:exactMatch UMLS:C1538859 semapv:UnspecifiedMatching OMIM:300951 RNF113A skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching -OMIM:300951 RNF113A skos:exactMatch hgnc:RNF113A semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:12974 semapv:UnspecifiedMatching +OMIM:300951 RNF113A skos:exactMatch hgnc.symbol:RNF113A semapv:UnspecifiedMatching OMIM:300951 RNF113A skos:exactMatch ncbigene:7737 semapv:UnspecifiedMatching +OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch UMLS:C4225420 semapv:UnspecifiedMatching -OMIM:300953 trichothiodystrophy 5, nonphotosensitive skos:exactMatch orphanet.ordo:33364 semapv:UnspecifiedMatching OMIM:300954 EOLA1 skos:exactMatch UMLS:C1824828 semapv:UnspecifiedMatching -OMIM:300954 EOLA1 skos:exactMatch hgnc:EOLA1 semapv:UnspecifiedMatching +OMIM:300954 EOLA1 skos:exactMatch hgnc.symbol:28089 semapv:UnspecifiedMatching +OMIM:300954 EOLA1 skos:exactMatch hgnc.symbol:EOLA1 semapv:UnspecifiedMatching OMIM:300954 EOLA1 skos:exactMatch ncbigene:91966 semapv:UnspecifiedMatching -OMIM:300955 APOOL skos:exactMatch hgnc:APOOL semapv:UnspecifiedMatching +OMIM:300955 APOOL skos:exactMatch hgnc.symbol:24009 semapv:UnspecifiedMatching +OMIM:300955 APOOL skos:exactMatch hgnc.symbol:APOOL semapv:UnspecifiedMatching OMIM:300955 APOOL skos:exactMatch ncbigene:139322 semapv:UnspecifiedMatching -OMIM:300956 BRAFP1 skos:exactMatch hgnc:BRAFP1 semapv:UnspecifiedMatching +OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:18615 semapv:UnspecifiedMatching +OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:BRAFP1 semapv:UnspecifiedMatching OMIM:300956 BRAFP1 skos:exactMatch ncbigene:286494 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796242 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch orphanet.ordo:457240 semapv:UnspecifiedMatching +OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching -OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok iia skos:exactMatch orphanet.ordo:457260 semapv:UnspecifiedMatching -OMIM:300959 DIPK2B skos:exactMatch hgnc:DIPK2B semapv:UnspecifiedMatching +OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:25866 semapv:UnspecifiedMatching +OMIM:300959 DIPK2B skos:exactMatch hgnc.symbol:DIPK2B semapv:UnspecifiedMatching OMIM:300959 DIPK2B skos:exactMatch ncbigene:79742 semapv:UnspecifiedMatching -OMIM:300961 MID1IP1 skos:exactMatch hgnc:MID1IP1 semapv:UnspecifiedMatching +OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:20715 semapv:UnspecifiedMatching +OMIM:300961 MID1IP1 skos:exactMatch hgnc.symbol:MID1IP1 semapv:UnspecifiedMatching OMIM:300961 MID1IP1 skos:exactMatch ncbigene:58526 semapv:UnspecifiedMatching OMIM:300962 GEMIN8 skos:exactMatch UMLS:C1825340 semapv:UnspecifiedMatching -OMIM:300962 GEMIN8 skos:exactMatch hgnc:GEMIN8 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:26044 semapv:UnspecifiedMatching +OMIM:300962 GEMIN8 skos:exactMatch hgnc.symbol:GEMIN8 semapv:UnspecifiedMatching OMIM:300962 GEMIN8 skos:exactMatch ncbigene:54960 semapv:UnspecifiedMatching -OMIM:300964 LAS1L skos:exactMatch hgnc:LAS1L semapv:UnspecifiedMatching +OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:25726 semapv:UnspecifiedMatching +OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:LAS1L semapv:UnspecifiedMatching OMIM:300964 LAS1L skos:exactMatch ncbigene:81887 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch hgnc:RTL9 semapv:UnspecifiedMatching +OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:29245 semapv:UnspecifiedMatching +OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:RTL9 semapv:UnspecifiedMatching OMIM:300965 RGAG1 skos:exactMatch ncbigene:57529 semapv:UnspecifiedMatching -OMIM:300969 GPRASP2 skos:exactMatch hgnc:GPRASP2 semapv:UnspecifiedMatching +OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:25169 semapv:UnspecifiedMatching +OMIM:300969 GPRASP2 skos:exactMatch hgnc.symbol:GPRASP2 semapv:UnspecifiedMatching OMIM:300969 GPRASP2 skos:exactMatch ncbigene:114928 semapv:UnspecifiedMatching -OMIM:300970 MORC4 skos:exactMatch hgnc:MORC4 semapv:UnspecifiedMatching +OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:23485 semapv:UnspecifiedMatching +OMIM:300970 MORC4 skos:exactMatch hgnc.symbol:MORC4 semapv:UnspecifiedMatching OMIM:300970 MORC4 skos:exactMatch ncbigene:79710 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch Orphanet:93604 semapv:UnspecifiedMatching OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch UMLS:C4310820 semapv:UnspecifiedMatching -OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch orphanet.ordo:112 semapv:UnspecifiedMatching -OMIM:300971 bartter syndrome, iia 5, antenatal, transient skos:exactMatch orphanet.ordo:93604 semapv:UnspecifiedMatching OMIM:300972 immunodeficiency 47 skos:exactMatch UMLS:C4310819 semapv:UnspecifiedMatching -OMIM:300973 RHOXF1P1 skos:exactMatch hgnc:RHOXF1P1 semapv:UnspecifiedMatching +OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:51580 semapv:UnspecifiedMatching +OMIM:300973 RHOXF1P1 skos:exactMatch hgnc.symbol:RHOXF1P1 semapv:UnspecifiedMatching OMIM:300973 RHOXF1P1 skos:exactMatch ncbigene:101928941 semapv:UnspecifiedMatching -OMIM:300974 PLCXD1 skos:exactMatch hgnc:PLCXD1 semapv:UnspecifiedMatching +OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:23148 semapv:UnspecifiedMatching +OMIM:300974 PLCXD1 skos:exactMatch hgnc.symbol:PLCXD1 semapv:UnspecifiedMatching OMIM:300974 PLCXD1 skos:exactMatch ncbigene:55344 semapv:UnspecifiedMatching -OMIM:300975 USP27X skos:exactMatch hgnc:USP27X semapv:UnspecifiedMatching +OMIM:300975 USP27X skos:exactMatch hgnc.symbol:13486 semapv:UnspecifiedMatching +OMIM:300975 USP27X skos:exactMatch hgnc.symbol:USP27X semapv:UnspecifiedMatching OMIM:300975 USP27X skos:exactMatch ncbigene:389856 semapv:UnspecifiedMatching -OMIM:300976 FAM46D skos:exactMatch hgnc:TENT5D semapv:UnspecifiedMatching +OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:28399 semapv:UnspecifiedMatching +OMIM:300976 FAM46D skos:exactMatch hgnc.symbol:TENT5D semapv:UnspecifiedMatching OMIM:300976 FAM46D skos:exactMatch ncbigene:169966 semapv:UnspecifiedMatching -OMIM:300980 KLHL15 skos:exactMatch hgnc:KLHL15 semapv:UnspecifiedMatching +OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:29347 semapv:UnspecifiedMatching +OMIM:300980 KLHL15 skos:exactMatch hgnc.symbol:KLHL15 semapv:UnspecifiedMatching OMIM:300980 KLHL15 skos:exactMatch ncbigene:80311 semapv:UnspecifiedMatching -OMIM:300981 VCX3B skos:exactMatch hgnc:VCX3B semapv:UnspecifiedMatching +OMIM:300981 VCX3B skos:exactMatch hgnc.symbol:31838 semapv:UnspecifiedMatching +OMIM:300981 VCX3B skos:exactMatch hgnc.symbol:VCX3B semapv:UnspecifiedMatching OMIM:300981 VCX3B skos:exactMatch ncbigene:425054 semapv:UnspecifiedMatching +OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch Orphanet:86818 semapv:UnspecifiedMatching OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch UMLS:C4310810 semapv:UnspecifiedMatching -OMIM:300990 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch orphanet.ordo:86818 semapv:UnspecifiedMatching -OMIM:300992 NBDY skos:exactMatch hgnc:NBDY semapv:UnspecifiedMatching +OMIM:300992 NBDY skos:exactMatch hgnc.symbol:50713 semapv:UnspecifiedMatching +OMIM:300992 NBDY skos:exactMatch hgnc.symbol:NBDY semapv:UnspecifiedMatching OMIM:300992 NBDY skos:exactMatch ncbigene:550643 semapv:UnspecifiedMatching -OMIM:300993 PASD1 skos:exactMatch hgnc:PASD1 semapv:UnspecifiedMatching +OMIM:300993 PASD1 skos:exactMatch hgnc.symbol:20686 semapv:UnspecifiedMatching +OMIM:300993 PASD1 skos:exactMatch hgnc.symbol:PASD1 semapv:UnspecifiedMatching OMIM:300993 PASD1 skos:exactMatch ncbigene:139135 semapv:UnspecifiedMatching -OMIM:300994 HDX skos:exactMatch hgnc:HDX semapv:UnspecifiedMatching +OMIM:300994 HDX skos:exactMatch hgnc.symbol:26411 semapv:UnspecifiedMatching +OMIM:300994 HDX skos:exactMatch hgnc.symbol:HDX semapv:UnspecifiedMatching OMIM:300994 HDX skos:exactMatch ncbigene:139324 semapv:UnspecifiedMatching -OMIM:300995 KIAA1210 skos:exactMatch hgnc:KIAA1210 semapv:UnspecifiedMatching +OMIM:300995 KIAA1210 skos:exactMatch hgnc.symbol:29218 semapv:UnspecifiedMatching +OMIM:300995 KIAA1210 skos:exactMatch hgnc.symbol:KIAA1210 semapv:UnspecifiedMatching OMIM:300995 KIAA1210 skos:exactMatch ncbigene:57481 semapv:UnspecifiedMatching OMIM:300996 YIPF6 skos:exactMatch UMLS:C1823891 semapv:UnspecifiedMatching -OMIM:300996 YIPF6 skos:exactMatch hgnc:YIPF6 semapv:UnspecifiedMatching +OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:28304 semapv:UnspecifiedMatching +OMIM:300996 YIPF6 skos:exactMatch hgnc.symbol:YIPF6 semapv:UnspecifiedMatching OMIM:300996 YIPF6 skos:exactMatch ncbigene:286451 semapv:UnspecifiedMatching -OMIM:300999 FIRRE skos:exactMatch hgnc:FIRRE semapv:UnspecifiedMatching +OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:49627 semapv:UnspecifiedMatching +OMIM:300999 FIRRE skos:exactMatch hgnc.symbol:FIRRE semapv:UnspecifiedMatching OMIM:300999 FIRRE skos:exactMatch ncbigene:286467 semapv:UnspecifiedMatching +OMIM:301000 wiskott-aldrich syndrome skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching OMIM:301000 wiskott-aldrich syndrome skos:exactMatch UMLS:C0043194 semapv:UnspecifiedMatching -OMIM:301000 wiskott-aldrich syndrome skos:exactMatch orphanet.ordo:906 semapv:UnspecifiedMatching -OMIM:301001 DANT1 skos:exactMatch hgnc:DANT1 semapv:UnspecifiedMatching +OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:50863 semapv:UnspecifiedMatching +OMIM:301001 DANT1 skos:exactMatch hgnc.symbol:DANT1 semapv:UnspecifiedMatching OMIM:301001 DANT1 skos:exactMatch ncbigene:106029310 semapv:UnspecifiedMatching -OMIM:301002 SRPK3 skos:exactMatch hgnc:SRPK3 semapv:UnspecifiedMatching +OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:11402 semapv:UnspecifiedMatching +OMIM:301002 SRPK3 skos:exactMatch hgnc.symbol:SRPK3 semapv:UnspecifiedMatching OMIM:301002 SRPK3 skos:exactMatch ncbigene:26576 semapv:UnspecifiedMatching -OMIM:301003 GPKOW skos:exactMatch hgnc:GPKOW semapv:UnspecifiedMatching +OMIM:301003 GPKOW skos:exactMatch hgnc.symbol:30677 semapv:UnspecifiedMatching +OMIM:301003 GPKOW skos:exactMatch hgnc.symbol:GPKOW semapv:UnspecifiedMatching OMIM:301003 GPKOW skos:exactMatch ncbigene:27238 semapv:UnspecifiedMatching -OMIM:301004 DANT2 skos:exactMatch hgnc:DANT2 semapv:UnspecifiedMatching +OMIM:301004 DANT2 skos:exactMatch hgnc.symbol:50862 semapv:UnspecifiedMatching +OMIM:301004 DANT2 skos:exactMatch hgnc.symbol:DANT2 semapv:UnspecifiedMatching OMIM:301004 DANT2 skos:exactMatch ncbigene:642776 semapv:UnspecifiedMatching -OMIM:301005 FRMPD3 skos:exactMatch hgnc:FRMPD3 semapv:UnspecifiedMatching +OMIM:301005 FRMPD3 skos:exactMatch hgnc.symbol:29382 semapv:UnspecifiedMatching +OMIM:301005 FRMPD3 skos:exactMatch hgnc.symbol:FRMPD3 semapv:UnspecifiedMatching OMIM:301005 FRMPD3 skos:exactMatch ncbigene:84443 semapv:UnspecifiedMatching -OMIM:301007 ZMAT1 skos:exactMatch hgnc:ZMAT1 semapv:UnspecifiedMatching +OMIM:301007 ZMAT1 skos:exactMatch hgnc.symbol:29377 semapv:UnspecifiedMatching +OMIM:301007 ZMAT1 skos:exactMatch hgnc.symbol:ZMAT1 semapv:UnspecifiedMatching OMIM:301007 ZMAT1 skos:exactMatch ncbigene:84460 semapv:UnspecifiedMatching -OMIM:301009 PAGE5 skos:exactMatch hgnc:PAGE5 semapv:UnspecifiedMatching +OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:29992 semapv:UnspecifiedMatching +OMIM:301009 PAGE5 skos:exactMatch hgnc.symbol:PAGE5 semapv:UnspecifiedMatching OMIM:301009 PAGE5 skos:exactMatch ncbigene:90737 semapv:UnspecifiedMatching -OMIM:301011 TMSB15B skos:exactMatch hgnc:TMSB15B semapv:UnspecifiedMatching +OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:28612 semapv:UnspecifiedMatching +OMIM:301011 TMSB15B skos:exactMatch hgnc.symbol:TMSB15B semapv:UnspecifiedMatching OMIM:301011 TMSB15B skos:exactMatch ncbigene:286527 semapv:UnspecifiedMatching -OMIM:301012 STEEP1 skos:exactMatch hgnc:STEEP1 semapv:UnspecifiedMatching +OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:26239 semapv:UnspecifiedMatching +OMIM:301012 STEEP1 skos:exactMatch hgnc.symbol:STEEP1 semapv:UnspecifiedMatching OMIM:301012 STEEP1 skos:exactMatch ncbigene:63932 semapv:UnspecifiedMatching OMIM:301016 RAP2C skos:exactMatch UMLS:C1427380 semapv:UnspecifiedMatching -OMIM:301016 RAP2C skos:exactMatch hgnc:RAP2C semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:21165 semapv:UnspecifiedMatching +OMIM:301016 RAP2C skos:exactMatch hgnc.symbol:RAP2C semapv:UnspecifiedMatching OMIM:301016 RAP2C skos:exactMatch ncbigene:57826 semapv:UnspecifiedMatching -OMIM:301017 PPP1R2C skos:exactMatch hgnc:PPP1R2C semapv:UnspecifiedMatching +OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:16324 semapv:UnspecifiedMatching +OMIM:301017 PPP1R2C skos:exactMatch hgnc.symbol:PPP1R2C semapv:UnspecifiedMatching OMIM:301017 PPP1R2C skos:exactMatch ncbigene:80316 semapv:UnspecifiedMatching -OMIM:301019 KANTR skos:exactMatch hgnc:KANTR semapv:UnspecifiedMatching +OMIM:301019 KANTR skos:exactMatch hgnc.symbol:49510 semapv:UnspecifiedMatching +OMIM:301019 KANTR skos:exactMatch hgnc.symbol:KANTR semapv:UnspecifiedMatching OMIM:301019 KANTR skos:exactMatch ncbigene:102723508 semapv:UnspecifiedMatching OMIM:301022 mullegama-klein-martinez syndrome skos:exactMatch UMLS:C5193008 semapv:UnspecifiedMatching -OMIM:301023 MIR532 skos:exactMatch hgnc:MIR532 semapv:UnspecifiedMatching +OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:32795 semapv:UnspecifiedMatching +OMIM:301023 MIR532 skos:exactMatch hgnc.symbol:MIR532 semapv:UnspecifiedMatching OMIM:301023 MIR532 skos:exactMatch ncbigene:693124 semapv:UnspecifiedMatching OMIM:301024 intellectual developmental disorder, X-linked 108 skos:exactMatch UMLS:C5193009 semapv:UnspecifiedMatching +OMIM:301026 keipert syndrome skos:exactMatch Orphanet:2662 semapv:UnspecifiedMatching OMIM:301026 keipert syndrome skos:exactMatch UMLS:C1850627 semapv:UnspecifiedMatching -OMIM:301026 keipert syndrome skos:exactMatch orphanet.ordo:2662 semapv:UnspecifiedMatching -OMIM:301027 TBC1D8B skos:exactMatch hgnc:TBC1D8B semapv:UnspecifiedMatching +OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:24715 semapv:UnspecifiedMatching +OMIM:301027 TBC1D8B skos:exactMatch hgnc.symbol:TBC1D8B semapv:UnspecifiedMatching OMIM:301027 TBC1D8B skos:exactMatch ncbigene:54885 semapv:UnspecifiedMatching OMIM:301032 basilicata-akhtar syndrome skos:exactMatch UMLS:C5231394 semapv:UnspecifiedMatching -OMIM:301034 DHRSX skos:exactMatch hgnc:DHRSX semapv:UnspecifiedMatching +OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:18399 semapv:UnspecifiedMatching +OMIM:301034 DHRSX skos:exactMatch hgnc.symbol:DHRSX semapv:UnspecifiedMatching OMIM:301034 DHRSX skos:exactMatch ncbigene:207063 semapv:UnspecifiedMatching -OMIM:301036 EZHIP skos:exactMatch hgnc:EZHIP semapv:UnspecifiedMatching +OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:33738 semapv:UnspecifiedMatching +OMIM:301036 EZHIP skos:exactMatch hgnc.symbol:EZHIP semapv:UnspecifiedMatching OMIM:301036 EZHIP skos:exactMatch ncbigene:340602 semapv:UnspecifiedMatching -OMIM:301037 H2AB1 skos:exactMatch hgnc:H2AB1 semapv:UnspecifiedMatching +OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:22516 semapv:UnspecifiedMatching +OMIM:301037 H2AB1 skos:exactMatch hgnc.symbol:H2AB1 semapv:UnspecifiedMatching OMIM:301037 H2AB1 skos:exactMatch ncbigene:474382 semapv:UnspecifiedMatching -OMIM:301038 H2AB2 skos:exactMatch hgnc:H2AB2 semapv:UnspecifiedMatching +OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:18298 semapv:UnspecifiedMatching +OMIM:301038 H2AB2 skos:exactMatch hgnc.symbol:H2AB2 semapv:UnspecifiedMatching OMIM:301038 H2AB2 skos:exactMatch ncbigene:474381 semapv:UnspecifiedMatching OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia skos:exactMatch UMLS:C5393302 semapv:UnspecifiedMatching OMIM:301041 wieacker-wolff syndrome, female-restricted skos:exactMatch UMLS:C5393303 semapv:UnspecifiedMatching OMIM:301042 FUNDC2 skos:exactMatch UMLS:C1539540 semapv:UnspecifiedMatching -OMIM:301042 FUNDC2 skos:exactMatch hgnc:FUNDC2 semapv:UnspecifiedMatching +OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:24925 semapv:UnspecifiedMatching +OMIM:301042 FUNDC2 skos:exactMatch hgnc.symbol:FUNDC2 semapv:UnspecifiedMatching OMIM:301042 FUNDC2 skos:exactMatch ncbigene:65991 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:220386 semapv:UnspecifiedMatching +OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch Orphanet:93925 semapv:UnspecifiedMatching OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch UMLS:C5393308 semapv:UnspecifiedMatching -OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch orphanet.ordo:220386 semapv:UnspecifiedMatching -OMIM:301043 holoprosencephaly 13, X-linked skos:exactMatch orphanet.ordo:93925 semapv:UnspecifiedMatching OMIM:301044 developmental and epileptic encephalopathy 85 with or without midline brain defects skos:exactMatch UMLS:C5393312 semapv:UnspecifiedMatching OMIM:301045 congenital disorder of glycosylation, iia iir skos:exactMatch UMLS:C5393313 semapv:UnspecifiedMatching OMIM:301046 ARMCX4 skos:exactMatch UMLS:C1538942 semapv:UnspecifiedMatching -OMIM:301046 ARMCX4 skos:exactMatch hgnc:ARMCX4 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:28615 semapv:UnspecifiedMatching +OMIM:301046 ARMCX4 skos:exactMatch hgnc.symbol:ARMCX4 semapv:UnspecifiedMatching OMIM:301046 ARMCX4 skos:exactMatch ncbigene:100131755 semapv:UnspecifiedMatching OMIM:301047 ARMCX5 skos:exactMatch UMLS:C1538943 semapv:UnspecifiedMatching -OMIM:301047 ARMCX5 skos:exactMatch hgnc:ARMCX5 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:25772 semapv:UnspecifiedMatching +OMIM:301047 ARMCX5 skos:exactMatch hgnc.symbol:ARMCX5 semapv:UnspecifiedMatching OMIM:301047 ARMCX5 skos:exactMatch ncbigene:64860 semapv:UnspecifiedMatching OMIM:301048 ARMCX6 skos:exactMatch UMLS:C1538944 semapv:UnspecifiedMatching -OMIM:301048 ARMCX6 skos:exactMatch hgnc:ARMCX6 semapv:UnspecifiedMatching +OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:26094 semapv:UnspecifiedMatching +OMIM:301048 ARMCX6 skos:exactMatch hgnc.symbol:ARMCX6 semapv:UnspecifiedMatching OMIM:301048 ARMCX6 skos:exactMatch ncbigene:54470 semapv:UnspecifiedMatching OMIM:301049 TASL skos:exactMatch UMLS:C1539172 semapv:UnspecifiedMatching -OMIM:301049 TASL skos:exactMatch hgnc:TASL semapv:UnspecifiedMatching +OMIM:301049 TASL skos:exactMatch hgnc.symbol:25667 semapv:UnspecifiedMatching +OMIM:301049 TASL skos:exactMatch hgnc.symbol:TASL semapv:UnspecifiedMatching OMIM:301049 TASL skos:exactMatch ncbigene:80231 semapv:UnspecifiedMatching OMIM:301051 immunodeficiency 74, covid19-related, X-linked skos:exactMatch UMLS:C5435745 semapv:UnspecifiedMatching OMIM:301052 warfarin sensitivity, X-linked skos:exactMatch UMLS:C5393318 semapv:UnspecifiedMatching OMIM:301053 MIR505 skos:exactMatch UMLS:C1826059 semapv:UnspecifiedMatching -OMIM:301053 MIR505 skos:exactMatch hgnc:MIR505 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:32140 semapv:UnspecifiedMatching +OMIM:301053 MIR505 skos:exactMatch hgnc.symbol:MIR505 semapv:UnspecifiedMatching OMIM:301053 MIR505 skos:exactMatch ncbigene:574508 semapv:UnspecifiedMatching OMIM:301054 vexas syndrome skos:exactMatch UMLS:C5435753 semapv:UnspecifiedMatching -OMIM:301055 CPXCR1 skos:exactMatch hgnc:CPXCR1 semapv:UnspecifiedMatching +OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:2332 semapv:UnspecifiedMatching +OMIM:301055 CPXCR1 skos:exactMatch hgnc.symbol:CPXCR1 semapv:UnspecifiedMatching OMIM:301055 CPXCR1 skos:exactMatch ncbigene:53336 semapv:UnspecifiedMatching -OMIM:301057 CFAP47 skos:exactMatch hgnc:CFAP47 semapv:UnspecifiedMatching +OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:26708 semapv:UnspecifiedMatching +OMIM:301057 CFAP47 skos:exactMatch hgnc.symbol:CFAP47 semapv:UnspecifiedMatching OMIM:301057 CFAP47 skos:exactMatch ncbigene:286464 semapv:UnspecifiedMatching -OMIM:301061 MTMR8 skos:exactMatch hgnc:MTMR8 semapv:UnspecifiedMatching +OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:16825 semapv:UnspecifiedMatching +OMIM:301061 MTMR8 skos:exactMatch hgnc.symbol:MTMR8 semapv:UnspecifiedMatching OMIM:301061 MTMR8 skos:exactMatch ncbigene:55613 semapv:UnspecifiedMatching -OMIM:301062 MIR766 skos:exactMatch hgnc:MIR766 semapv:UnspecifiedMatching +OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:33139 semapv:UnspecifiedMatching +OMIM:301062 MIR766 skos:exactMatch hgnc.symbol:MIR766 semapv:UnspecifiedMatching OMIM:301062 MIR766 skos:exactMatch ncbigene:768218 semapv:UnspecifiedMatching -OMIM:301063 XAGE5 skos:exactMatch hgnc:XAGE5 semapv:UnspecifiedMatching +OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:30930 semapv:UnspecifiedMatching +OMIM:301063 XAGE5 skos:exactMatch hgnc.symbol:XAGE5 semapv:UnspecifiedMatching OMIM:301063 XAGE5 skos:exactMatch ncbigene:170627 semapv:UnspecifiedMatching -OMIM:301064 MAGEB18 skos:exactMatch hgnc:MAGEB18 semapv:UnspecifiedMatching +OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:28515 semapv:UnspecifiedMatching +OMIM:301064 MAGEB18 skos:exactMatch hgnc.symbol:MAGEB18 semapv:UnspecifiedMatching OMIM:301064 MAGEB18 skos:exactMatch ncbigene:286514 semapv:UnspecifiedMatching -OMIM:301065 RAB40A skos:exactMatch hgnc:RAB40A semapv:UnspecifiedMatching +OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:18283 semapv:UnspecifiedMatching +OMIM:301065 RAB40A skos:exactMatch hgnc.symbol:RAB40A semapv:UnspecifiedMatching OMIM:301065 RAB40A skos:exactMatch ncbigene:142684 semapv:UnspecifiedMatching -OMIM:301067 FAM47C skos:exactMatch hgnc:FAM47C semapv:UnspecifiedMatching +OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:25301 semapv:UnspecifiedMatching +OMIM:301067 FAM47C skos:exactMatch hgnc.symbol:FAM47C semapv:UnspecifiedMatching OMIM:301067 FAM47C skos:exactMatch ncbigene:442444 semapv:UnspecifiedMatching -OMIM:301070 WDR44 skos:exactMatch hgnc:WDR44 semapv:UnspecifiedMatching +OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:30512 semapv:UnspecifiedMatching +OMIM:301070 WDR44 skos:exactMatch hgnc.symbol:WDR44 semapv:UnspecifiedMatching OMIM:301070 WDR44 skos:exactMatch ncbigene:54521 semapv:UnspecifiedMatching -OMIM:301073 ATP1B4 skos:exactMatch hgnc:ATP1B4 semapv:UnspecifiedMatching +OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:808 semapv:UnspecifiedMatching +OMIM:301073 ATP1B4 skos:exactMatch hgnc.symbol:ATP1B4 semapv:UnspecifiedMatching OMIM:301073 ATP1B4 skos:exactMatch ncbigene:23439 semapv:UnspecifiedMatching -OMIM:301079 DDX53 skos:exactMatch hgnc:DDX53 semapv:UnspecifiedMatching +OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:20083 semapv:UnspecifiedMatching +OMIM:301079 DDX53 skos:exactMatch hgnc.symbol:DDX53 semapv:UnspecifiedMatching OMIM:301079 DDX53 skos:exactMatch ncbigene:168400 semapv:UnspecifiedMatching -OMIM:301084 TCEANC skos:exactMatch hgnc:TCEANC semapv:UnspecifiedMatching +OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:28277 semapv:UnspecifiedMatching +OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:TCEANC semapv:UnspecifiedMatching OMIM:301084 TCEANC skos:exactMatch ncbigene:170082 semapv:UnspecifiedMatching -OMIM:301085 ADGRG4 skos:exactMatch hgnc:ADGRG4 semapv:UnspecifiedMatching +OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:18992 semapv:UnspecifiedMatching +OMIM:301085 ADGRG4 skos:exactMatch hgnc.symbol:ADGRG4 semapv:UnspecifiedMatching OMIM:301085 ADGRG4 skos:exactMatch ncbigene:139378 semapv:UnspecifiedMatching -OMIM:301086 MOSPD2 skos:exactMatch hgnc:MOSPD2 semapv:UnspecifiedMatching +OMIM:301086 MOSPD2 skos:exactMatch hgnc.symbol:28381 semapv:UnspecifiedMatching +OMIM:301086 MOSPD2 skos:exactMatch hgnc.symbol:MOSPD2 semapv:UnspecifiedMatching OMIM:301086 MOSPD2 skos:exactMatch ncbigene:158747 semapv:UnspecifiedMatching -OMIM:301087 FGF13AS1 skos:exactMatch hgnc:FGF13-AS1 semapv:UnspecifiedMatching +OMIM:301087 FGF13AS1 skos:exactMatch hgnc.symbol:44264 semapv:UnspecifiedMatching +OMIM:301087 FGF13AS1 skos:exactMatch hgnc.symbol:FGF13-AS1 semapv:UnspecifiedMatching OMIM:301087 FGF13AS1 skos:exactMatch ncbigene:100129662 semapv:UnspecifiedMatching -OMIM:301088 CMC4 skos:exactMatch hgnc:CMC4 semapv:UnspecifiedMatching +OMIM:301088 CMC4 skos:exactMatch hgnc.symbol:35428 semapv:UnspecifiedMatching +OMIM:301088 CMC4 skos:exactMatch hgnc.symbol:CMC4 semapv:UnspecifiedMatching OMIM:301088 CMC4 skos:exactMatch ncbigene:100272147 semapv:UnspecifiedMatching -OMIM:301089 WWC3 skos:exactMatch hgnc:WWC3 semapv:UnspecifiedMatching +OMIM:301089 WWC3 skos:exactMatch hgnc.symbol:29237 semapv:UnspecifiedMatching +OMIM:301089 WWC3 skos:exactMatch hgnc.symbol:WWC3 semapv:UnspecifiedMatching OMIM:301089 WWC3 skos:exactMatch ncbigene:55841 semapv:UnspecifiedMatching -OMIM:301092 MIR92A2 skos:exactMatch hgnc:MIR92A2 semapv:UnspecifiedMatching +OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:31644 semapv:UnspecifiedMatching +OMIM:301092 MIR92A2 skos:exactMatch hgnc.symbol:MIR92A2 semapv:UnspecifiedMatching OMIM:301092 MIR92A2 skos:exactMatch ncbigene:407049 semapv:UnspecifiedMatching -OMIM:301093 NHSL2 skos:exactMatch hgnc:NHSL2 semapv:UnspecifiedMatching +OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:33737 semapv:UnspecifiedMatching +OMIM:301093 NHSL2 skos:exactMatch hgnc.symbol:NHSL2 semapv:UnspecifiedMatching OMIM:301093 NHSL2 skos:exactMatch ncbigene:340527 semapv:UnspecifiedMatching -OMIM:301096 CSAG2 skos:exactMatch hgnc:CSAG2 semapv:UnspecifiedMatching +OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:16847 semapv:UnspecifiedMatching +OMIM:301096 CSAG2 skos:exactMatch hgnc.symbol:CSAG2 semapv:UnspecifiedMatching OMIM:301096 CSAG2 skos:exactMatch ncbigene:102723547 semapv:UnspecifiedMatching -OMIM:301097 CSAG3 skos:exactMatch hgnc:CSAG3 semapv:UnspecifiedMatching +OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:26237 semapv:UnspecifiedMatching +OMIM:301097 CSAG3 skos:exactMatch hgnc.symbol:CSAG3 semapv:UnspecifiedMatching OMIM:301097 CSAG3 skos:exactMatch ncbigene:389903 semapv:UnspecifiedMatching -OMIM:301098 MMGT1 skos:exactMatch hgnc:MMGT1 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:28100 semapv:UnspecifiedMatching +OMIM:301098 MMGT1 skos:exactMatch hgnc.symbol:MMGT1 semapv:UnspecifiedMatching OMIM:301098 MMGT1 skos:exactMatch ncbigene:93380 semapv:UnspecifiedMatching -OMIM:301102 TMEM31 skos:exactMatch hgnc:TMEM31 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:28601 semapv:UnspecifiedMatching +OMIM:301102 TMEM31 skos:exactMatch hgnc.symbol:TMEM31 semapv:UnspecifiedMatching OMIM:301102 TMEM31 skos:exactMatch ncbigene:203562 semapv:UnspecifiedMatching -OMIM:301103 MPC1L skos:exactMatch hgnc:MPC1L semapv:UnspecifiedMatching +OMIM:301103 MPC1L skos:exactMatch hgnc.symbol:44205 semapv:UnspecifiedMatching +OMIM:301103 MPC1L skos:exactMatch hgnc.symbol:MPC1L semapv:UnspecifiedMatching OMIM:301103 MPC1L skos:exactMatch ncbigene:347411 semapv:UnspecifiedMatching -OMIM:301104 PPP1R3F skos:exactMatch hgnc:PPP1R3F semapv:UnspecifiedMatching +OMIM:301104 PPP1R3F skos:exactMatch hgnc.symbol:14944 semapv:UnspecifiedMatching +OMIM:301104 PPP1R3F skos:exactMatch hgnc.symbol:PPP1R3F semapv:UnspecifiedMatching OMIM:301104 PPP1R3F skos:exactMatch ncbigene:89801 semapv:UnspecifiedMatching -OMIM:301105 CT55 skos:exactMatch hgnc:CT55 semapv:UnspecifiedMatching +OMIM:301105 CT55 skos:exactMatch hgnc.symbol:26047 semapv:UnspecifiedMatching +OMIM:301105 CT55 skos:exactMatch hgnc.symbol:CT55 semapv:UnspecifiedMatching OMIM:301105 CT55 skos:exactMatch ncbigene:54967 semapv:UnspecifiedMatching -OMIM:301112 GLOD5 skos:exactMatch hgnc:GLOD5 semapv:UnspecifiedMatching +OMIM:301112 GLOD5 skos:exactMatch hgnc.symbol:33358 semapv:UnspecifiedMatching +OMIM:301112 GLOD5 skos:exactMatch hgnc.symbol:GLOD5 semapv:UnspecifiedMatching OMIM:301112 GLOD5 skos:exactMatch ncbigene:392465 semapv:UnspecifiedMatching -OMIM:301113 SPIN4 skos:exactMatch hgnc:SPIN4 semapv:UnspecifiedMatching +OMIM:301113 SPIN4 skos:exactMatch hgnc.symbol:27040 semapv:UnspecifiedMatching +OMIM:301113 SPIN4 skos:exactMatch hgnc.symbol:SPIN4 semapv:UnspecifiedMatching OMIM:301113 SPIN4 skos:exactMatch ncbigene:139886 semapv:UnspecifiedMatching -OMIM:301300 ALAS2 skos:exactMatch hgnc:ALAS2 semapv:UnspecifiedMatching +OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:397 semapv:UnspecifiedMatching +OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:ALAS2 semapv:UnspecifiedMatching OMIM:301300 ALAS2 skos:exactMatch ncbigene:212 semapv:UnspecifiedMatching +OMIM:301500 fabry disease skos:exactMatch Orphanet:324 semapv:UnspecifiedMatching OMIM:301500 fabry disease skos:exactMatch UMLS:C0002986 semapv:UnspecifiedMatching -OMIM:301500 fabry disease skos:exactMatch orphanet.ordo:324 semapv:UnspecifiedMatching -OMIM:301770 ARR3 skos:exactMatch hgnc:ARR3 semapv:UnspecifiedMatching +OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:710 semapv:UnspecifiedMatching +OMIM:301770 ARR3 skos:exactMatch hgnc.symbol:ARR3 semapv:UnspecifiedMatching OMIM:301770 ARR3 skos:exactMatch ncbigene:407 semapv:UnspecifiedMatching -OMIM:301780 ARSC2 skos:exactMatch hgnc:ARSC2 semapv:UnspecifiedMatching +OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:716 semapv:UnspecifiedMatching +OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:ARSC2 semapv:UnspecifiedMatching OMIM:301780 ARSC2 skos:exactMatch ncbigene:413 semapv:UnspecifiedMatching +OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch Orphanet:1145 semapv:UnspecifiedMatching OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching -OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch orphanet.ordo:1145 semapv:UnspecifiedMatching -OMIM:301870 BGN skos:exactMatch hgnc:BGN semapv:UnspecifiedMatching +OMIM:301870 BGN skos:exactMatch hgnc.symbol:1044 semapv:UnspecifiedMatching +OMIM:301870 BGN skos:exactMatch hgnc.symbol:BGN semapv:UnspecifiedMatching OMIM:301870 BGN skos:exactMatch ncbigene:633 semapv:UnspecifiedMatching +OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch Orphanet:127 semapv:UnspecifiedMatching OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch UMLS:C0265339 semapv:UnspecifiedMatching -OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch orphanet.ordo:127 semapv:UnspecifiedMatching -OMIM:302020 S100G skos:exactMatch hgnc:S100G semapv:UnspecifiedMatching +OMIM:302020 S100G skos:exactMatch hgnc.symbol:1436 semapv:UnspecifiedMatching +OMIM:302020 S100G skos:exactMatch hgnc.symbol:S100G semapv:UnspecifiedMatching OMIM:302020 S100G skos:exactMatch ncbigene:795 semapv:UnspecifiedMatching +OMIM:302350 nance-horan syndrome skos:exactMatch Orphanet:627 semapv:UnspecifiedMatching OMIM:302350 nance-horan syndrome skos:exactMatch UMLS:C0796085 semapv:UnspecifiedMatching -OMIM:302350 nance-horan syndrome skos:exactMatch orphanet.ordo:627 semapv:UnspecifiedMatching -OMIM:302650 CDR1 skos:exactMatch hgnc:CDR1 semapv:UnspecifiedMatching +OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:1798 semapv:UnspecifiedMatching +OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:CDR1 semapv:UnspecifiedMatching OMIM:302650 CDR1 skos:exactMatch ncbigene:1038 semapv:UnspecifiedMatching -OMIM:302910 CLCN4 skos:exactMatch hgnc:CLCN4 semapv:UnspecifiedMatching +OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:2022 semapv:UnspecifiedMatching +OMIM:302910 CLCN4 skos:exactMatch hgnc.symbol:CLCN4 semapv:UnspecifiedMatching OMIM:302910 CLCN4 skos:exactMatch ncbigene:1183 semapv:UnspecifiedMatching -OMIM:303630 COL4A5 skos:exactMatch hgnc:COL4A5 semapv:UnspecifiedMatching +OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:2207 semapv:UnspecifiedMatching +OMIM:303630 COL4A5 skos:exactMatch hgnc.symbol:COL4A5 semapv:UnspecifiedMatching OMIM:303630 COL4A5 skos:exactMatch ncbigene:1287 semapv:UnspecifiedMatching -OMIM:303631 COL4A6 skos:exactMatch hgnc:COL4A6 semapv:UnspecifiedMatching +OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:2208 semapv:UnspecifiedMatching +OMIM:303631 COL4A6 skos:exactMatch hgnc.symbol:COL4A6 semapv:UnspecifiedMatching OMIM:303631 COL4A6 skos:exactMatch ncbigene:1288 semapv:UnspecifiedMatching -OMIM:304040 GJB1 skos:exactMatch hgnc:GJB1 semapv:UnspecifiedMatching +OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:4283 semapv:UnspecifiedMatching +OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:GJB1 semapv:UnspecifiedMatching OMIM:304040 GJB1 skos:exactMatch ncbigene:2705 semapv:UnspecifiedMatching -OMIM:305360 MPP1 skos:exactMatch hgnc:MPP1 semapv:UnspecifiedMatching +OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:7219 semapv:UnspecifiedMatching +OMIM:305360 MPP1 skos:exactMatch hgnc.symbol:MPP1 semapv:UnspecifiedMatching OMIM:305360 MPP1 skos:exactMatch ncbigene:4354 semapv:UnspecifiedMatching -OMIM:305370 TIMP1 skos:exactMatch hgnc:TIMP1 semapv:UnspecifiedMatching +OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:11820 semapv:UnspecifiedMatching +OMIM:305370 TIMP1 skos:exactMatch hgnc.symbol:TIMP1 semapv:UnspecifiedMatching OMIM:305370 TIMP1 skos:exactMatch ncbigene:7076 semapv:UnspecifiedMatching -OMIM:305371 GATA1 skos:exactMatch hgnc:GATA1 semapv:UnspecifiedMatching +OMIM:305371 GATA1 skos:exactMatch hgnc.symbol:4170 semapv:UnspecifiedMatching +OMIM:305371 GATA1 skos:exactMatch hgnc.symbol:GATA1 semapv:UnspecifiedMatching OMIM:305371 GATA1 skos:exactMatch ncbigene:2623 semapv:UnspecifiedMatching -OMIM:305423 F8A1 skos:exactMatch hgnc:F8A1 semapv:UnspecifiedMatching +OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:3547 semapv:UnspecifiedMatching +OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:F8A1 semapv:UnspecifiedMatching OMIM:305423 F8A1 skos:exactMatch ncbigene:8263 semapv:UnspecifiedMatching +OMIM:305600 focal dermal hypoplasia skos:exactMatch Orphanet:2092 semapv:UnspecifiedMatching OMIM:305600 focal dermal hypoplasia skos:exactMatch UMLS:C0016395 semapv:UnspecifiedMatching -OMIM:305600 focal dermal hypoplasia skos:exactMatch orphanet.ordo:2092 semapv:UnspecifiedMatching -OMIM:305660 GABRA3 skos:exactMatch hgnc:GABRA3 semapv:UnspecifiedMatching +OMIM:305660 GABRA3 skos:exactMatch hgnc.symbol:4077 semapv:UnspecifiedMatching +OMIM:305660 GABRA3 skos:exactMatch hgnc.symbol:GABRA3 semapv:UnspecifiedMatching OMIM:305660 GABRA3 skos:exactMatch ncbigene:2556 semapv:UnspecifiedMatching -OMIM:305670 GRPR skos:exactMatch hgnc:GRPR semapv:UnspecifiedMatching +OMIM:305670 GRPR skos:exactMatch hgnc.symbol:4609 semapv:UnspecifiedMatching +OMIM:305670 GRPR skos:exactMatch hgnc.symbol:GRPR semapv:UnspecifiedMatching OMIM:305670 GRPR skos:exactMatch ncbigene:2925 semapv:UnspecifiedMatching +OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch UMLS:C1384583 semapv:UnspecifiedMatching -OMIM:305700 spermatogenic failure, x-linked, 1 skos:exactMatch orphanet.ordo:399805 semapv:UnspecifiedMatching -OMIM:305900 G6PD skos:exactMatch hgnc:G6PD semapv:UnspecifiedMatching +OMIM:305900 G6PD skos:exactMatch hgnc.symbol:4057 semapv:UnspecifiedMatching +OMIM:305900 G6PD skos:exactMatch hgnc.symbol:G6PD semapv:UnspecifiedMatching OMIM:305900 G6PD skos:exactMatch ncbigene:2539 semapv:UnspecifiedMatching OMIM:305915 GRIA3 skos:exactMatch UMLS:C1333710 semapv:UnspecifiedMatching OMIM:305915 GRIA3 skos:exactMatch UMLS:C5436947 semapv:UnspecifiedMatching -OMIM:305915 GRIA3 skos:exactMatch hgnc:GRIA3 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:4573 semapv:UnspecifiedMatching +OMIM:305915 GRIA3 skos:exactMatch hgnc.symbol:GRIA3 semapv:UnspecifiedMatching OMIM:305915 GRIA3 skos:exactMatch ncbigene:2892 semapv:UnspecifiedMatching -OMIM:305990 GLRA2 skos:exactMatch hgnc:GLRA2 semapv:UnspecifiedMatching +OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:4327 semapv:UnspecifiedMatching +OMIM:305990 GLRA2 skos:exactMatch hgnc.symbol:GLRA2 semapv:UnspecifiedMatching OMIM:305990 GLRA2 skos:exactMatch ncbigene:2742 semapv:UnspecifiedMatching +OMIM:306000 glycogen storage disease ixa1 skos:exactMatch Orphanet:264580 semapv:UnspecifiedMatching OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C1844412 semapv:UnspecifiedMatching OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C2748941 semapv:UnspecifiedMatching OMIM:306000 glycogen storage disease ixa1 skos:exactMatch UMLS:C3694531 semapv:UnspecifiedMatching -OMIM:306000 glycogen storage disease ixa1 skos:exactMatch orphanet.ordo:264580 semapv:UnspecifiedMatching -OMIM:306250 CSF2RA skos:exactMatch hgnc:CSF2RA semapv:UnspecifiedMatching +OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching +OMIM:306250 CSF2RA skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching OMIM:306250 CSF2RA skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching +OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch UMLS:C1844376 semapv:UnspecifiedMatching -OMIM:306400 granulomatous disease, chronic, X-linked skos:exactMatch orphanet.ordo:379 semapv:UnspecifiedMatching -OMIM:306480 HDHD1A skos:exactMatch hgnc:PUDP semapv:UnspecifiedMatching +OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:16818 semapv:UnspecifiedMatching +OMIM:306480 HDHD1A skos:exactMatch hgnc.symbol:PUDP semapv:UnspecifiedMatching OMIM:306480 HDHD1A skos:exactMatch ncbigene:8226 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:169802 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:169805 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:169808 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:177926 semapv:UnspecifiedMatching +OMIM:306700 hemophilia a skos:exactMatch Orphanet:98878 semapv:UnspecifiedMatching OMIM:306700 hemophilia a skos:exactMatch UMLS:C0019069 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch orphanet.ordo:169802 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch orphanet.ordo:169805 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch orphanet.ordo:169808 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch orphanet.ordo:177926 semapv:UnspecifiedMatching -OMIM:306700 hemophilia a skos:exactMatch orphanet.ordo:98878 semapv:UnspecifiedMatching +OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C1844020 semapv:UnspecifiedMatching OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch UMLS:C3151867 semapv:UnspecifiedMatching -OMIM:306955 heterotaxy, visceral, 1, X-linked skos:exactMatch orphanet.ordo:450 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C0023374 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C1415701 semapv:UnspecifiedMatching @@ -9070,643 +12106,879 @@ OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311002 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311003 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311004 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch UMLS:C4311005 semapv:UnspecifiedMatching -OMIM:308000 HPRT1 skos:exactMatch hgnc:HPRT1 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:5157 semapv:UnspecifiedMatching +OMIM:308000 HPRT1 skos:exactMatch hgnc.symbol:HPRT1 semapv:UnspecifiedMatching OMIM:308000 HPRT1 skos:exactMatch ncbigene:3251 semapv:UnspecifiedMatching +OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch Orphanet:139 semapv:UnspecifiedMatching OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch UMLS:C0265267 semapv:UnspecifiedMatching -OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects skos:exactMatch orphanet.ordo:139 semapv:UnspecifiedMatching +OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch Orphanet:431 semapv:UnspecifiedMatching OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch UMLS:C1839989 semapv:UnspecifiedMatching -OMIM:308200 ichthyosis and male hypogonadism skos:exactMatch orphanet.ordo:431 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching +OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch Orphanet:85284 semapv:UnspecifiedMatching OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch UMLS:C5399971 semapv:UnspecifiedMatching -OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch orphanet.ordo:2273 semapv:UnspecifiedMatching -OMIM:308205 ifap syndrome 1, with or without bresheck syndrome skos:exactMatch orphanet.ordo:85284 semapv:UnspecifiedMatching +OMIM:308300 incontinentia pigmenti skos:exactMatch Orphanet:464 semapv:UnspecifiedMatching OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C0021171 semapv:UnspecifiedMatching OMIM:308300 incontinentia pigmenti skos:exactMatch UMLS:C2930820 semapv:UnspecifiedMatching -OMIM:308300 incontinentia pigmenti skos:exactMatch orphanet.ordo:464 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3175 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching +OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch Orphanet:364063 semapv:UnspecifiedMatching OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C3463992 semapv:UnspecifiedMatching OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch UMLS:C4552072 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch orphanet.ordo:3175 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:308350 developmental and epileptic encephalopathy 1 skos:exactMatch orphanet.ordo:364063 semapv:UnspecifiedMatching -OMIM:308380 IL2RG skos:exactMatch hgnc:IL2RG semapv:UnspecifiedMatching +OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:6010 semapv:UnspecifiedMatching +OMIM:308380 IL2RG skos:exactMatch hgnc.symbol:IL2RG semapv:UnspecifiedMatching OMIM:308380 IL2RG skos:exactMatch ncbigene:3561 semapv:UnspecifiedMatching -OMIM:308385 IL3RA skos:exactMatch hgnc:IL3RA semapv:UnspecifiedMatching +OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching +OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching OMIM:308385 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching -OMIM:308840 L1CAM skos:exactMatch hgnc:L1CAM semapv:UnspecifiedMatching +OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:6470 semapv:UnspecifiedMatching +OMIM:308840 L1CAM skos:exactMatch hgnc.symbol:L1CAM semapv:UnspecifiedMatching OMIM:308840 L1CAM skos:exactMatch ncbigene:3897 semapv:UnspecifiedMatching OMIM:308960 leukemia, acute, X-linked skos:exactMatch UMLS:C3501854 semapv:UnspecifiedMatching +OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C2713392 semapv:UnspecifiedMatching -OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch orphanet.ordo:534 semapv:UnspecifiedMatching -OMIM:309060 LAMP2 skos:exactMatch hgnc:LAMP2 semapv:UnspecifiedMatching +OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:6501 semapv:UnspecifiedMatching +OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:LAMP2 semapv:UnspecifiedMatching OMIM:309060 LAMP2 skos:exactMatch ncbigene:3920 semapv:UnspecifiedMatching +OMIM:309400 menkes disease skos:exactMatch Orphanet:565 semapv:UnspecifiedMatching OMIM:309400 menkes disease skos:exactMatch UMLS:C0022716 semapv:UnspecifiedMatching -OMIM:309400 menkes disease skos:exactMatch orphanet.ordo:565 semapv:UnspecifiedMatching +OMIM:309510 partington syndrome skos:exactMatch Orphanet:94083 semapv:UnspecifiedMatching OMIM:309510 partington syndrome skos:exactMatch UMLS:C0796250 semapv:UnspecifiedMatching -OMIM:309510 partington syndrome skos:exactMatch orphanet.ordo:94083 semapv:UnspecifiedMatching +OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch Orphanet:776 semapv:UnspecifiedMatching OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch UMLS:C0796022 semapv:UnspecifiedMatching -OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia skos:exactMatch orphanet.ordo:776 semapv:UnspecifiedMatching -OMIM:309550 FMR1 skos:exactMatch hgnc:FMR1 semapv:UnspecifiedMatching +OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:3775 semapv:UnspecifiedMatching +OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:FMR1 semapv:UnspecifiedMatching OMIM:309550 FMR1 skos:exactMatch ncbigene:2332 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching +OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch Orphanet:85328 semapv:UnspecifiedMatching OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C0796003 semapv:UnspecifiedMatching OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C0796272 semapv:UnspecifiedMatching OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch UMLS:C2678046 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching -OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia skos:exactMatch orphanet.ordo:85328 semapv:UnspecifiedMatching +OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch Orphanet:568 semapv:UnspecifiedMatching OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch UMLS:C0796016 semapv:UnspecifiedMatching -OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch orphanet.ordo:568 semapv:UnspecifiedMatching -OMIM:309845 MSN skos:exactMatch hgnc:MSN semapv:UnspecifiedMatching +OMIM:309845 MSN skos:exactMatch hgnc.symbol:7373 semapv:UnspecifiedMatching +OMIM:309845 MSN skos:exactMatch hgnc.symbol:MSN semapv:UnspecifiedMatching OMIM:309845 MSN skos:exactMatch ncbigene:4478 semapv:UnspecifiedMatching -OMIM:309850 MAOA skos:exactMatch hgnc:MAOA semapv:UnspecifiedMatching +OMIM:309850 MAOA skos:exactMatch hgnc.symbol:6833 semapv:UnspecifiedMatching +OMIM:309850 MAOA skos:exactMatch hgnc.symbol:MAOA semapv:UnspecifiedMatching OMIM:309850 MAOA skos:exactMatch ncbigene:4128 semapv:UnspecifiedMatching -OMIM:309860 MAOB skos:exactMatch hgnc:MAOB semapv:UnspecifiedMatching +OMIM:309860 MAOB skos:exactMatch hgnc.symbol:6834 semapv:UnspecifiedMatching +OMIM:309860 MAOB skos:exactMatch hgnc.symbol:MAOB semapv:UnspecifiedMatching OMIM:309860 MAOB skos:exactMatch ncbigene:4129 semapv:UnspecifiedMatching OMIM:309950 muscular dystrophy, hemizygous lethal iia skos:exactMatch UMLS:C1839671 semapv:UnspecifiedMatching -OMIM:310310 MYCL2 skos:exactMatch hgnc:MYCLP1 semapv:UnspecifiedMatching +OMIM:310310 MYCL2 skos:exactMatch hgnc.symbol:7556 semapv:UnspecifiedMatching +OMIM:310310 MYCL2 skos:exactMatch hgnc.symbol:MYCLP1 semapv:UnspecifiedMatching OMIM:310310 MYCL2 skos:exactMatch ncbigene:4611 semapv:UnspecifiedMatching +OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch UMLS:C1839615 semapv:UnspecifiedMatching -OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch orphanet.ordo:25980 semapv:UnspecifiedMatching +OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch Orphanet:101078 semapv:UnspecifiedMatching OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch UMLS:C0795910 semapv:UnspecifiedMatching -OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia skos:exactMatch orphanet.ordo:101078 semapv:UnspecifiedMatching -OMIM:311010 ARAF skos:exactMatch hgnc:ARAF semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch hgnc.symbol:646 semapv:UnspecifiedMatching +OMIM:311010 ARAF skos:exactMatch hgnc.symbol:ARAF semapv:UnspecifiedMatching OMIM:311010 ARAF skos:exactMatch ncbigene:369 semapv:UnspecifiedMatching -OMIM:311030 MCF2 skos:exactMatch hgnc:MCF2 semapv:UnspecifiedMatching +OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:6940 semapv:UnspecifiedMatching +OMIM:311030 MCF2 skos:exactMatch hgnc.symbol:MCF2 semapv:UnspecifiedMatching OMIM:311030 MCF2 skos:exactMatch ncbigene:4168 semapv:UnspecifiedMatching -OMIM:311040 ELK1 skos:exactMatch hgnc:ELK1 semapv:UnspecifiedMatching +OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:3321 semapv:UnspecifiedMatching +OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:ELK1 semapv:UnspecifiedMatching OMIM:311040 ELK1 skos:exactMatch ncbigene:2002 semapv:UnspecifiedMatching -OMIM:311240 TBC1D25 skos:exactMatch hgnc:TBC1D25 semapv:UnspecifiedMatching +OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:8092 semapv:UnspecifiedMatching +OMIM:311240 TBC1D25 skos:exactMatch hgnc.symbol:TBC1D25 semapv:UnspecifiedMatching OMIM:311240 TBC1D25 skos:exactMatch ncbigene:4943 semapv:UnspecifiedMatching +OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch Orphanet:664 semapv:UnspecifiedMatching OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch UMLS:C0268542 semapv:UnspecifiedMatching -OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to skos:exactMatch orphanet.ordo:664 semapv:UnspecifiedMatching +OMIM:311360 premature ovarian failure 1 skos:exactMatch Orphanet:908 semapv:UnspecifiedMatching OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C0085215 semapv:UnspecifiedMatching OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C3494522 semapv:UnspecifiedMatching OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching -OMIM:311360 premature ovarian failure 1 skos:exactMatch orphanet.ordo:908 semapv:UnspecifiedMatching -OMIM:311550 CDK16 skos:exactMatch hgnc:CDK16 semapv:UnspecifiedMatching +OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:8749 semapv:UnspecifiedMatching +OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:CDK16 semapv:UnspecifiedMatching OMIM:311550 CDK16 skos:exactMatch ncbigene:5127 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C0024790 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C1418558 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C1418559 semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch UMLS:C3275508 semapv:UnspecifiedMatching -OMIM:311770 PIGA skos:exactMatch hgnc:PIGA semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch hgnc.symbol:8957 semapv:UnspecifiedMatching +OMIM:311770 PIGA skos:exactMatch hgnc.symbol:PIGA semapv:UnspecifiedMatching OMIM:311770 PIGA skos:exactMatch ncbigene:5277 semapv:UnspecifiedMatching -OMIM:311790 PFKFB1 skos:exactMatch hgnc:PFKFB1 semapv:UnspecifiedMatching +OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:8872 semapv:UnspecifiedMatching +OMIM:311790 PFKFB1 skos:exactMatch hgnc.symbol:PFKFB1 semapv:UnspecifiedMatching OMIM:311790 PFKFB1 skos:exactMatch ncbigene:5207 semapv:UnspecifiedMatching -OMIM:311800 PGK1 skos:exactMatch hgnc:PGK1 semapv:UnspecifiedMatching +OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:8896 semapv:UnspecifiedMatching +OMIM:311800 PGK1 skos:exactMatch hgnc.symbol:PGK1 semapv:UnspecifiedMatching OMIM:311800 PGK1 skos:exactMatch ncbigene:5230 semapv:UnspecifiedMatching -OMIM:311850 PRPS1 skos:exactMatch hgnc:PRPS1 semapv:UnspecifiedMatching +OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:9462 semapv:UnspecifiedMatching +OMIM:311850 PRPS1 skos:exactMatch hgnc.symbol:PRPS1 semapv:UnspecifiedMatching OMIM:311850 PRPS1 skos:exactMatch ncbigene:5631 semapv:UnspecifiedMatching -OMIM:311860 PRPS2 skos:exactMatch hgnc:PRPS2 semapv:UnspecifiedMatching +OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:9465 semapv:UnspecifiedMatching +OMIM:311860 PRPS2 skos:exactMatch hgnc.symbol:PRPS2 semapv:UnspecifiedMatching OMIM:311860 PRPS2 skos:exactMatch ncbigene:5634 semapv:UnspecifiedMatching -OMIM:311870 PHKA1 skos:exactMatch hgnc:PHKA1 semapv:UnspecifiedMatching +OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:8925 semapv:UnspecifiedMatching +OMIM:311870 PHKA1 skos:exactMatch hgnc.symbol:PHKA1 semapv:UnspecifiedMatching OMIM:311870 PHKA1 skos:exactMatch ncbigene:5255 semapv:UnspecifiedMatching +OMIM:311900 tarp syndrome skos:exactMatch Orphanet:2886 semapv:UnspecifiedMatching OMIM:311900 tarp syndrome skos:exactMatch UMLS:C1839463 semapv:UnspecifiedMatching -OMIM:311900 tarp syndrome skos:exactMatch orphanet.ordo:2886 semapv:UnspecifiedMatching -OMIM:312040 POLA1 skos:exactMatch hgnc:POLA1 semapv:UnspecifiedMatching +OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:9173 semapv:UnspecifiedMatching +OMIM:312040 POLA1 skos:exactMatch hgnc.symbol:POLA1 semapv:UnspecifiedMatching OMIM:312040 POLA1 skos:exactMatch ncbigene:5422 semapv:UnspecifiedMatching -OMIM:312070 UBL4A skos:exactMatch hgnc:UBL4A semapv:UnspecifiedMatching +OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:12505 semapv:UnspecifiedMatching +OMIM:312070 UBL4A skos:exactMatch hgnc.symbol:UBL4A semapv:UnspecifiedMatching OMIM:312070 UBL4A skos:exactMatch ncbigene:8266 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280210 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:280234 semapv:UnspecifiedMatching +OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch Orphanet:702 semapv:UnspecifiedMatching OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch UMLS:C0205711 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch orphanet.ordo:280210 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch orphanet.ordo:280234 semapv:UnspecifiedMatching -OMIM:312080 pelizaeus-merzbacher disease skos:exactMatch orphanet.ordo:702 semapv:UnspecifiedMatching -OMIM:312090 SLC10A3 skos:exactMatch hgnc:SLC10A3 semapv:UnspecifiedMatching +OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:22979 semapv:UnspecifiedMatching +OMIM:312090 SLC10A3 skos:exactMatch hgnc.symbol:SLC10A3 semapv:UnspecifiedMatching OMIM:312090 SLC10A3 skos:exactMatch ncbigene:8273 semapv:UnspecifiedMatching -OMIM:312095 AKAP17A skos:exactMatch hgnc:AKAP17A semapv:UnspecifiedMatching +OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:18783 semapv:UnspecifiedMatching +OMIM:312095 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching OMIM:312095 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch Orphanet:79243 semapv:UnspecifiedMatching OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0034345 semapv:UnspecifiedMatching OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C0751597 semapv:UnspecifiedMatching OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch UMLS:C1839413 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch orphanet.ordo:765 semapv:UnspecifiedMatching -OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency skos:exactMatch orphanet.ordo:79243 semapv:UnspecifiedMatching -OMIM:312173 RPL10 skos:exactMatch hgnc:RPL10 semapv:UnspecifiedMatching +OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:10298 semapv:UnspecifiedMatching +OMIM:312173 RPL10 skos:exactMatch hgnc.symbol:RPL10 semapv:UnspecifiedMatching OMIM:312173 RPL10 skos:exactMatch ncbigene:6134 semapv:UnspecifiedMatching -OMIM:312180 UBE2A skos:exactMatch hgnc:UBE2A semapv:UnspecifiedMatching +OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:12472 semapv:UnspecifiedMatching +OMIM:312180 UBE2A skos:exactMatch hgnc.symbol:UBE2A semapv:UnspecifiedMatching OMIM:312180 UBE2A skos:exactMatch ncbigene:7319 semapv:UnspecifiedMatching -OMIM:312420 RENBP skos:exactMatch hgnc:RENBP semapv:UnspecifiedMatching +OMIM:312420 RENBP skos:exactMatch hgnc.symbol:9959 semapv:UnspecifiedMatching +OMIM:312420 RENBP skos:exactMatch hgnc.symbol:RENBP semapv:UnspecifiedMatching OMIM:312420 RENBP skos:exactMatch ncbigene:5973 semapv:UnspecifiedMatching -OMIM:312610 RPGR skos:exactMatch hgnc:RPGR semapv:UnspecifiedMatching +OMIM:312610 RPGR skos:exactMatch hgnc.symbol:10295 semapv:UnspecifiedMatching +OMIM:312610 RPGR skos:exactMatch hgnc.symbol:RPGR semapv:UnspecifiedMatching OMIM:312610 RPGR skos:exactMatch ncbigene:6103 semapv:UnspecifiedMatching +OMIM:312750 rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching +OMIM:312750 rett syndrome skos:exactMatch Orphanet:778 semapv:UnspecifiedMatching OMIM:312750 rett syndrome skos:exactMatch UMLS:C0035372 semapv:UnspecifiedMatching -OMIM:312750 rett syndrome skos:exactMatch orphanet.ordo:3095 semapv:UnspecifiedMatching -OMIM:312750 rett syndrome skos:exactMatch orphanet.ordo:778 semapv:UnspecifiedMatching -OMIM:312760 RPS4X skos:exactMatch hgnc:RPS4X semapv:UnspecifiedMatching +OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:10424 semapv:UnspecifiedMatching +OMIM:312760 RPS4X skos:exactMatch hgnc.symbol:RPS4X semapv:UnspecifiedMatching OMIM:312760 RPS4X skos:exactMatch ncbigene:6191 semapv:UnspecifiedMatching -OMIM:312820 SSX1 skos:exactMatch hgnc:SSX1 semapv:UnspecifiedMatching +OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:11335 semapv:UnspecifiedMatching +OMIM:312820 SSX1 skos:exactMatch hgnc.symbol:SSX1 semapv:UnspecifiedMatching OMIM:312820 SSX1 skos:exactMatch ncbigene:6756 semapv:UnspecifiedMatching -OMIM:312861 HTR2C skos:exactMatch hgnc:HTR2C semapv:UnspecifiedMatching +OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:5295 semapv:UnspecifiedMatching +OMIM:312861 HTR2C skos:exactMatch hgnc.symbol:HTR2C semapv:UnspecifiedMatching OMIM:312861 HTR2C skos:exactMatch ncbigene:3358 semapv:UnspecifiedMatching -OMIM:312865 SHOX skos:exactMatch hgnc:SHOX semapv:UnspecifiedMatching +OMIM:312865 SHOX skos:exactMatch hgnc.symbol:10853 semapv:UnspecifiedMatching +OMIM:312865 SHOX skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching OMIM:312865 SHOX skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching +OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch Orphanet:373 semapv:UnspecifiedMatching OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch UMLS:C0796154 semapv:UnspecifiedMatching -OMIM:312870 simpson-golabi-behmel syndrome, iia 1 skos:exactMatch orphanet.ordo:373 semapv:UnspecifiedMatching -OMIM:313020 SAT1 skos:exactMatch hgnc:SAT1 semapv:UnspecifiedMatching +OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:10540 semapv:UnspecifiedMatching +OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:SAT1 semapv:UnspecifiedMatching OMIM:313020 SAT1 skos:exactMatch ncbigene:6303 semapv:UnspecifiedMatching -OMIM:313430 SOX3 skos:exactMatch hgnc:SOX3 semapv:UnspecifiedMatching +OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:11199 semapv:UnspecifiedMatching +OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:SOX3 semapv:UnspecifiedMatching OMIM:313430 SOX3 skos:exactMatch ncbigene:6658 semapv:UnspecifiedMatching -OMIM:313440 SYN1 skos:exactMatch hgnc:SYN1 semapv:UnspecifiedMatching +OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:11494 semapv:UnspecifiedMatching +OMIM:313440 SYN1 skos:exactMatch hgnc.symbol:SYN1 semapv:UnspecifiedMatching OMIM:313440 SYN1 skos:exactMatch ncbigene:6853 semapv:UnspecifiedMatching -OMIM:313470 CD99 skos:exactMatch hgnc:CD99 semapv:UnspecifiedMatching +OMIM:313470 CD99 skos:exactMatch hgnc.symbol:7082 semapv:UnspecifiedMatching +OMIM:313470 CD99 skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching OMIM:313470 CD99 skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching -OMIM:313475 SYP skos:exactMatch hgnc:SYP semapv:UnspecifiedMatching +OMIM:313475 SYP skos:exactMatch hgnc.symbol:11506 semapv:UnspecifiedMatching +OMIM:313475 SYP skos:exactMatch hgnc.symbol:SYP semapv:UnspecifiedMatching OMIM:313475 SYP skos:exactMatch ncbigene:6855 semapv:UnspecifiedMatching -OMIM:313650 TAF1 skos:exactMatch hgnc:TAF1 semapv:UnspecifiedMatching +OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:11535 semapv:UnspecifiedMatching +OMIM:313650 TAF1 skos:exactMatch hgnc.symbol:TAF1 semapv:UnspecifiedMatching OMIM:313650 TAF1 skos:exactMatch ncbigene:6872 semapv:UnspecifiedMatching -OMIM:313700 AR skos:exactMatch hgnc:AR semapv:UnspecifiedMatching +OMIM:313700 AR skos:exactMatch hgnc.symbol:644 semapv:UnspecifiedMatching +OMIM:313700 AR skos:exactMatch hgnc.symbol:AR semapv:UnspecifiedMatching OMIM:313700 AR skos:exactMatch ncbigene:367 semapv:UnspecifiedMatching +OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching +OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch UMLS:C1839163 semapv:UnspecifiedMatching -OMIM:313900 thrombocytopenia 1 skos:exactMatch orphanet.ordo:268322 semapv:UnspecifiedMatching -OMIM:313900 thrombocytopenia 1 skos:exactMatch orphanet.ordo:852 semapv:UnspecifiedMatching -OMIM:314200 TBG skos:exactMatch hgnc:SERPINA7 semapv:UnspecifiedMatching +OMIM:314200 TBG skos:exactMatch hgnc.symbol:11583 semapv:UnspecifiedMatching +OMIM:314200 TBG skos:exactMatch hgnc.symbol:SERPINA7 semapv:UnspecifiedMatching OMIM:314200 TBG skos:exactMatch ncbigene:6906 semapv:UnspecifiedMatching -OMIM:314310 TFE3 skos:exactMatch hgnc:TFE3 semapv:UnspecifiedMatching +OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:11752 semapv:UnspecifiedMatching +OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:TFE3 semapv:UnspecifiedMatching OMIM:314310 TFE3 skos:exactMatch ncbigene:7030 semapv:UnspecifiedMatching +OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch Orphanet:3369 semapv:UnspecifiedMatching OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch UMLS:C1839125 semapv:UnspecifiedMatching -OMIM:314320 trigonocephaly with short stature and developmental delay skos:exactMatch orphanet.ordo:3369 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch UMLS:C1421268 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch UMLS:C5436948 semapv:UnspecifiedMatching -OMIM:314370 UBA1 skos:exactMatch hgnc:UBA1 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:12469 semapv:UnspecifiedMatching +OMIM:314370 UBA1 skos:exactMatch hgnc.symbol:UBA1 semapv:UnspecifiedMatching OMIM:314370 UBA1 skos:exactMatch ncbigene:7317 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch UMLS:C1420188 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch UMLS:C3806688 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch UMLS:C4016594 semapv:UnspecifiedMatching -OMIM:314375 SLC35A2 skos:exactMatch hgnc:SLC35A2 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:11022 semapv:UnspecifiedMatching +OMIM:314375 SLC35A2 skos:exactMatch hgnc.symbol:SLC35A2 semapv:UnspecifiedMatching OMIM:314375 SLC35A2 skos:exactMatch ncbigene:7355 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:3454 semapv:UnspecifiedMatching +OMIM:314580 wieacker-wolff syndrome skos:exactMatch Orphanet:85283 semapv:UnspecifiedMatching OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C0796200 semapv:UnspecifiedMatching OMIM:314580 wieacker-wolff syndrome skos:exactMatch UMLS:C1839735 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch orphanet.ordo:3454 semapv:UnspecifiedMatching -OMIM:314580 wieacker-wolff syndrome skos:exactMatch orphanet.ordo:85283 semapv:UnspecifiedMatching OMIM:314670 XIST skos:exactMatch UMLS:C1421536 semapv:UnspecifiedMatching OMIM:314670 XIST skos:exactMatch UMLS:C1848138 semapv:UnspecifiedMatching -OMIM:314670 XIST skos:exactMatch hgnc:XIST semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch hgnc.symbol:12810 semapv:UnspecifiedMatching +OMIM:314670 XIST skos:exactMatch hgnc.symbol:XIST semapv:UnspecifiedMatching OMIM:314670 XIST skos:exactMatch ncbigene:7503 semapv:UnspecifiedMatching -OMIM:314690 KDM5C skos:exactMatch hgnc:KDM5C semapv:UnspecifiedMatching +OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:11114 semapv:UnspecifiedMatching +OMIM:314690 KDM5C skos:exactMatch hgnc.symbol:KDM5C semapv:UnspecifiedMatching OMIM:314690 KDM5C skos:exactMatch ncbigene:8242 semapv:UnspecifiedMatching -OMIM:314850 XK skos:exactMatch hgnc:XK semapv:UnspecifiedMatching +OMIM:314850 XK skos:exactMatch hgnc.symbol:12811 semapv:UnspecifiedMatching +OMIM:314850 XK skos:exactMatch hgnc.symbol:XK semapv:UnspecifiedMatching OMIM:314850 XK skos:exactMatch ncbigene:7504 semapv:UnspecifiedMatching -OMIM:314980 ZFX skos:exactMatch hgnc:ZFX semapv:UnspecifiedMatching +OMIM:314980 ZFX skos:exactMatch hgnc.symbol:12869 semapv:UnspecifiedMatching +OMIM:314980 ZFX skos:exactMatch hgnc.symbol:ZFX semapv:UnspecifiedMatching OMIM:314980 ZFX skos:exactMatch ncbigene:7543 semapv:UnspecifiedMatching -OMIM:314990 ZNF711 skos:exactMatch hgnc:ZNF711 semapv:UnspecifiedMatching +OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:13128 semapv:UnspecifiedMatching +OMIM:314990 ZNF711 skos:exactMatch hgnc.symbol:ZNF711 semapv:UnspecifiedMatching OMIM:314990 ZNF711 skos:exactMatch ncbigene:7552 semapv:UnspecifiedMatching -OMIM:314993 ZNF182 skos:exactMatch hgnc:ZNF182 semapv:UnspecifiedMatching +OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:13001 semapv:UnspecifiedMatching +OMIM:314993 ZNF182 skos:exactMatch hgnc.symbol:ZNF182 semapv:UnspecifiedMatching OMIM:314993 ZNF182 skos:exactMatch ncbigene:7569 semapv:UnspecifiedMatching -OMIM:314995 ZNF41 skos:exactMatch hgnc:ZNF41 semapv:UnspecifiedMatching +OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:13107 semapv:UnspecifiedMatching +OMIM:314995 ZNF41 skos:exactMatch hgnc.symbol:ZNF41 semapv:UnspecifiedMatching OMIM:314995 ZNF41 skos:exactMatch ncbigene:7592 semapv:UnspecifiedMatching -OMIM:314997 ZNF75D skos:exactMatch hgnc:ZNF75D semapv:UnspecifiedMatching +OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:13145 semapv:UnspecifiedMatching +OMIM:314997 ZNF75D skos:exactMatch hgnc.symbol:ZNF75D semapv:UnspecifiedMatching OMIM:314997 ZNF75D skos:exactMatch ncbigene:7626 semapv:UnspecifiedMatching -OMIM:314998 ZNF81 skos:exactMatch hgnc:ZNF81 semapv:UnspecifiedMatching +OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:13156 semapv:UnspecifiedMatching +OMIM:314998 ZNF81 skos:exactMatch hgnc.symbol:ZNF81 semapv:UnspecifiedMatching OMIM:314998 ZNF81 skos:exactMatch ncbigene:347344 semapv:UnspecifiedMatching -OMIM:400003 DAZ1 skos:exactMatch hgnc:DAZ1 semapv:UnspecifiedMatching +OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:2682 semapv:UnspecifiedMatching +OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:DAZ1 semapv:UnspecifiedMatching OMIM:400003 DAZ1 skos:exactMatch ncbigene:1617 semapv:UnspecifiedMatching -OMIM:400005 USP9Y skos:exactMatch hgnc:USP9Y semapv:UnspecifiedMatching +OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:12633 semapv:UnspecifiedMatching +OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:USP9Y semapv:UnspecifiedMatching OMIM:400005 USP9Y skos:exactMatch ncbigene:8287 semapv:UnspecifiedMatching OMIM:400006 RBMY1A1 skos:exactMatch UMLS:C1419310 semapv:UnspecifiedMatching -OMIM:400006 RBMY1A1 skos:exactMatch hgnc:RBMY1A1 semapv:UnspecifiedMatching +OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:9912 semapv:UnspecifiedMatching +OMIM:400006 RBMY1A1 skos:exactMatch hgnc.symbol:RBMY1A1 semapv:UnspecifiedMatching OMIM:400006 RBMY1A1 skos:exactMatch ncbigene:5940 semapv:UnspecifiedMatching -OMIM:400008 PRKY skos:exactMatch hgnc:PRKY semapv:UnspecifiedMatching +OMIM:400008 PRKY skos:exactMatch hgnc.symbol:9444 semapv:UnspecifiedMatching +OMIM:400008 PRKY skos:exactMatch hgnc.symbol:PRKY semapv:UnspecifiedMatching OMIM:400008 PRKY skos:exactMatch ncbigene:5616 semapv:UnspecifiedMatching -OMIM:400009 UTY skos:exactMatch hgnc:UTY semapv:UnspecifiedMatching +OMIM:400009 UTY skos:exactMatch hgnc.symbol:12638 semapv:UnspecifiedMatching +OMIM:400009 UTY skos:exactMatch hgnc.symbol:UTY semapv:UnspecifiedMatching OMIM:400009 UTY skos:exactMatch ncbigene:7404 semapv:UnspecifiedMatching OMIM:400010 DDX3Y skos:exactMatch UMLS:C1413926 semapv:UnspecifiedMatching -OMIM:400010 DDX3Y skos:exactMatch hgnc:DDX3Y semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:2699 semapv:UnspecifiedMatching +OMIM:400010 DDX3Y skos:exactMatch hgnc.symbol:DDX3Y semapv:UnspecifiedMatching OMIM:400010 DDX3Y skos:exactMatch ncbigene:8653 semapv:UnspecifiedMatching -OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc:ASMTL semapv:UnspecifiedMatching +OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:751 semapv:UnspecifiedMatching +OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch hgnc.symbol:ASMTL semapv:UnspecifiedMatching OMIM:400011 acetylserotonin methyltransferase-like, Y-linked skos:exactMatch ncbigene:8623 semapv:UnspecifiedMatching -OMIM:400012 VCY skos:exactMatch hgnc:VCY semapv:UnspecifiedMatching +OMIM:400012 VCY skos:exactMatch hgnc.symbol:12668 semapv:UnspecifiedMatching +OMIM:400012 VCY skos:exactMatch hgnc.symbol:VCY semapv:UnspecifiedMatching OMIM:400012 VCY skos:exactMatch ncbigene:9084 semapv:UnspecifiedMatching -OMIM:400013 BPY2 skos:exactMatch hgnc:BPY2 semapv:UnspecifiedMatching +OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:13508 semapv:UnspecifiedMatching +OMIM:400013 BPY2 skos:exactMatch hgnc.symbol:BPY2 semapv:UnspecifiedMatching OMIM:400013 BPY2 skos:exactMatch ncbigene:9083 semapv:UnspecifiedMatching -OMIM:400014 EIF1AY skos:exactMatch hgnc:EIF1AY semapv:UnspecifiedMatching +OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:3252 semapv:UnspecifiedMatching +OMIM:400014 EIF1AY skos:exactMatch hgnc.symbol:EIF1AY semapv:UnspecifiedMatching OMIM:400014 EIF1AY skos:exactMatch ncbigene:9086 semapv:UnspecifiedMatching -OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc:XKRY semapv:UnspecifiedMatching +OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:18571 semapv:UnspecifiedMatching +OMIM:400015 xk-related protein on y chromosome skos:exactMatch hgnc.symbol:XKRY semapv:UnspecifiedMatching OMIM:400015 xk-related protein on y chromosome skos:exactMatch ncbigene:9082 semapv:UnspecifiedMatching OMIM:400016 CDY1 skos:exactMatch UMLS:C1413303 semapv:UnspecifiedMatching -OMIM:400016 CDY1 skos:exactMatch hgnc:CDY1 semapv:UnspecifiedMatching +OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:1809 semapv:UnspecifiedMatching +OMIM:400016 CDY1 skos:exactMatch hgnc.symbol:CDY1 semapv:UnspecifiedMatching OMIM:400016 CDY1 skos:exactMatch ncbigene:9085 semapv:UnspecifiedMatching -OMIM:400017 TMSB4Y skos:exactMatch hgnc:TMSB4Y semapv:UnspecifiedMatching +OMIM:400017 TMSB4Y skos:exactMatch hgnc.symbol:11882 semapv:UnspecifiedMatching +OMIM:400017 TMSB4Y skos:exactMatch hgnc.symbol:TMSB4Y semapv:UnspecifiedMatching OMIM:400017 TMSB4Y skos:exactMatch ncbigene:9087 semapv:UnspecifiedMatching OMIM:400018 CDY2A skos:exactMatch UMLS:C1824691 semapv:UnspecifiedMatching -OMIM:400018 CDY2A skos:exactMatch hgnc:CDY2A semapv:UnspecifiedMatching +OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:1810 semapv:UnspecifiedMatching +OMIM:400018 CDY2A skos:exactMatch hgnc.symbol:CDY2A semapv:UnspecifiedMatching OMIM:400018 CDY2A skos:exactMatch ncbigene:9426 semapv:UnspecifiedMatching -OMIM:400019 PRY skos:exactMatch hgnc:PRY semapv:UnspecifiedMatching +OMIM:400019 PRY skos:exactMatch hgnc.symbol:14024 semapv:UnspecifiedMatching +OMIM:400019 PRY skos:exactMatch hgnc.symbol:PRY semapv:UnspecifiedMatching OMIM:400019 PRY skos:exactMatch ncbigene:9081 semapv:UnspecifiedMatching -OMIM:400020 SHOXY skos:exactMatch hgnc:SHOX semapv:UnspecifiedMatching +OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:10853 semapv:UnspecifiedMatching +OMIM:400020 SHOXY skos:exactMatch hgnc.symbol:SHOX semapv:UnspecifiedMatching OMIM:400020 SHOXY skos:exactMatch ncbigene:6473 semapv:UnspecifiedMatching -OMIM:400022 PCDH11Y skos:exactMatch hgnc:PCDH11Y semapv:UnspecifiedMatching +OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:15813 semapv:UnspecifiedMatching +OMIM:400022 PCDH11Y skos:exactMatch hgnc.symbol:PCDH11Y semapv:UnspecifiedMatching OMIM:400022 PCDH11Y skos:exactMatch ncbigene:83259 semapv:UnspecifiedMatching -OMIM:400023 CRLF2Y skos:exactMatch hgnc:CRLF2 semapv:UnspecifiedMatching +OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:14281 semapv:UnspecifiedMatching +OMIM:400023 CRLF2Y skos:exactMatch hgnc.symbol:CRLF2 semapv:UnspecifiedMatching OMIM:400023 CRLF2Y skos:exactMatch ncbigene:64109 semapv:UnspecifiedMatching -OMIM:400025 TGIF2LY skos:exactMatch hgnc:TGIF2LY semapv:UnspecifiedMatching +OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:18569 semapv:UnspecifiedMatching +OMIM:400025 TGIF2LY skos:exactMatch hgnc.symbol:TGIF2LY semapv:UnspecifiedMatching OMIM:400025 TGIF2LY skos:exactMatch ncbigene:90655 semapv:UnspecifiedMatching -OMIM:400026 DAZ2 skos:exactMatch hgnc:DAZ2 semapv:UnspecifiedMatching +OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:15964 semapv:UnspecifiedMatching +OMIM:400026 DAZ2 skos:exactMatch hgnc.symbol:DAZ2 semapv:UnspecifiedMatching OMIM:400026 DAZ2 skos:exactMatch ncbigene:57055 semapv:UnspecifiedMatching -OMIM:400027 DAZ3 skos:exactMatch hgnc:DAZ3 semapv:UnspecifiedMatching +OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:15965 semapv:UnspecifiedMatching +OMIM:400027 DAZ3 skos:exactMatch hgnc.symbol:DAZ3 semapv:UnspecifiedMatching OMIM:400027 DAZ3 skos:exactMatch ncbigene:57054 semapv:UnspecifiedMatching -OMIM:400028 NLGN4Y skos:exactMatch hgnc:NLGN4Y semapv:UnspecifiedMatching +OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:15529 semapv:UnspecifiedMatching +OMIM:400028 NLGN4Y skos:exactMatch hgnc.symbol:NLGN4Y semapv:UnspecifiedMatching OMIM:400028 NLGN4Y skos:exactMatch ncbigene:22829 semapv:UnspecifiedMatching -OMIM:400029 HSFY skos:exactMatch hgnc:HSFY1 semapv:UnspecifiedMatching +OMIM:400029 HSFY skos:exactMatch hgnc.symbol:18568 semapv:UnspecifiedMatching +OMIM:400029 HSFY skos:exactMatch hgnc.symbol:HSFY1 semapv:UnspecifiedMatching OMIM:400029 HSFY skos:exactMatch ncbigene:86614 semapv:UnspecifiedMatching -OMIM:400030 RPS4Y2 skos:exactMatch hgnc:RPS4Y2 semapv:UnspecifiedMatching +OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:18501 semapv:UnspecifiedMatching +OMIM:400030 RPS4Y2 skos:exactMatch hgnc.symbol:RPS4Y2 semapv:UnspecifiedMatching OMIM:400030 RPS4Y2 skos:exactMatch ncbigene:140032 semapv:UnspecifiedMatching -OMIM:400031 TXLNGY skos:exactMatch hgnc:TXLNGY semapv:UnspecifiedMatching +OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:18473 semapv:UnspecifiedMatching +OMIM:400031 TXLNGY skos:exactMatch hgnc.symbol:TXLNGY semapv:UnspecifiedMatching OMIM:400031 TXLNGY skos:exactMatch ncbigene:246126 semapv:UnspecifiedMatching -OMIM:400033 TBL1Y skos:exactMatch hgnc:TBL1Y semapv:UnspecifiedMatching +OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:18502 semapv:UnspecifiedMatching +OMIM:400033 TBL1Y skos:exactMatch hgnc.symbol:TBL1Y semapv:UnspecifiedMatching OMIM:400033 TBL1Y skos:exactMatch ncbigene:90665 semapv:UnspecifiedMatching -OMIM:400034 CSPG4P1Y skos:exactMatch hgnc:CSPG4P1Y semapv:UnspecifiedMatching +OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:16478 semapv:UnspecifiedMatching +OMIM:400034 CSPG4P1Y skos:exactMatch hgnc.symbol:CSPG4P1Y semapv:UnspecifiedMatching OMIM:400034 CSPG4P1Y skos:exactMatch ncbigene:114758 semapv:UnspecifiedMatching -OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc:GOLGA2P2Y semapv:UnspecifiedMatching +OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:16479 semapv:UnspecifiedMatching +OMIM:400035 GOLGA2P2Y skos:exactMatch hgnc.symbol:GOLGA2P2Y semapv:UnspecifiedMatching OMIM:400035 GOLGA2P2Y skos:exactMatch ncbigene:84559 semapv:UnspecifiedMatching -OMIM:400036 TTTY3 skos:exactMatch hgnc:TTTY3 semapv:UnspecifiedMatching +OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:16480 semapv:UnspecifiedMatching +OMIM:400036 TTTY3 skos:exactMatch hgnc.symbol:TTTY3 semapv:UnspecifiedMatching OMIM:400036 TTTY3 skos:exactMatch ncbigene:114760 semapv:UnspecifiedMatching -OMIM:400037 TTTY4 skos:exactMatch hgnc:TTTY4 semapv:UnspecifiedMatching +OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:16481 semapv:UnspecifiedMatching +OMIM:400037 TTTY4 skos:exactMatch hgnc.symbol:TTTY4 semapv:UnspecifiedMatching OMIM:400037 TTTY4 skos:exactMatch ncbigene:114761 semapv:UnspecifiedMatching -OMIM:400038 TTTY5 skos:exactMatch hgnc:TTTY5 semapv:UnspecifiedMatching +OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:16482 semapv:UnspecifiedMatching +OMIM:400038 TTTY5 skos:exactMatch hgnc.symbol:TTTY5 semapv:UnspecifiedMatching OMIM:400038 TTTY5 skos:exactMatch ncbigene:83863 semapv:UnspecifiedMatching -OMIM:400039 TTTY6 skos:exactMatch hgnc:TTTY6 semapv:UnspecifiedMatching +OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:16483 semapv:UnspecifiedMatching +OMIM:400039 TTTY6 skos:exactMatch hgnc.symbol:TTTY6 semapv:UnspecifiedMatching OMIM:400039 TTTY6 skos:exactMatch ncbigene:84672 semapv:UnspecifiedMatching -OMIM:400040 TTTY17 skos:exactMatch hgnc:TTTY17A semapv:UnspecifiedMatching +OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:18841 semapv:UnspecifiedMatching +OMIM:400040 TTTY17 skos:exactMatch hgnc.symbol:TTTY17A semapv:UnspecifiedMatching OMIM:400040 TTTY17 skos:exactMatch ncbigene:252949 semapv:UnspecifiedMatching -OMIM:400041 PRY2 skos:exactMatch hgnc:PRY2 semapv:UnspecifiedMatching +OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:21504 semapv:UnspecifiedMatching +OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:PRY2 semapv:UnspecifiedMatching OMIM:400041 PRY2 skos:exactMatch ncbigene:442862 semapv:UnspecifiedMatching +OMIM:400044 46,xy sex reversal 1 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748898 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748899 semapv:UnspecifiedMatching -OMIM:400044 46,xy sex reversal 1 skos:exactMatch orphanet.ordo:242 semapv:UnspecifiedMatching +OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:2138 semapv:UnspecifiedMatching +OMIM:400045 46,xx sex reversal 1 skos:exactMatch Orphanet:393 semapv:UnspecifiedMatching OMIM:400045 46,xx sex reversal 1 skos:exactMatch UMLS:C2748895 semapv:UnspecifiedMatching -OMIM:400045 46,xx sex reversal 1 skos:exactMatch orphanet.ordo:2138 semapv:UnspecifiedMatching -OMIM:400045 46,xx sex reversal 1 skos:exactMatch orphanet.ordo:393 semapv:UnspecifiedMatching -OMIM:400048 DAZ4 skos:exactMatch hgnc:DAZ4 semapv:UnspecifiedMatching +OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:15966 semapv:UnspecifiedMatching +OMIM:400048 DAZ4 skos:exactMatch hgnc.symbol:DAZ4 semapv:UnspecifiedMatching OMIM:400048 DAZ4 skos:exactMatch ncbigene:57135 semapv:UnspecifiedMatching -OMIM:400050 VCY1B skos:exactMatch hgnc:VCY1B semapv:UnspecifiedMatching +OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:31751 semapv:UnspecifiedMatching +OMIM:400050 VCY1B skos:exactMatch hgnc.symbol:VCY1B semapv:UnspecifiedMatching OMIM:400050 VCY1B skos:exactMatch ncbigene:353513 semapv:UnspecifiedMatching -OMIM:402500 ASMT skos:exactMatch hgnc:ASMT semapv:UnspecifiedMatching +OMIM:402500 ASMT skos:exactMatch hgnc.symbol:750 semapv:UnspecifiedMatching +OMIM:402500 ASMT skos:exactMatch hgnc.symbol:ASMT semapv:UnspecifiedMatching OMIM:402500 ASMT skos:exactMatch ncbigene:438 semapv:UnspecifiedMatching -OMIM:403000 SLC25A6 skos:exactMatch hgnc:SLC25A6 semapv:UnspecifiedMatching +OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:10992 semapv:UnspecifiedMatching +OMIM:403000 SLC25A6 skos:exactMatch hgnc.symbol:SLC25A6 semapv:UnspecifiedMatching OMIM:403000 SLC25A6 skos:exactMatch ncbigene:293 semapv:UnspecifiedMatching -OMIM:410000 AMELY skos:exactMatch hgnc:AMELY semapv:UnspecifiedMatching +OMIM:410000 AMELY skos:exactMatch hgnc.symbol:462 semapv:UnspecifiedMatching +OMIM:410000 AMELY skos:exactMatch hgnc.symbol:AMELY semapv:UnspecifiedMatching OMIM:410000 AMELY skos:exactMatch ncbigene:266 semapv:UnspecifiedMatching -OMIM:425000 CSF2RY skos:exactMatch hgnc:CSF2RA semapv:UnspecifiedMatching +OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching +OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching OMIM:425000 CSF2RY skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching -OMIM:426000 KDM5D skos:exactMatch hgnc:KDM5D semapv:UnspecifiedMatching +OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:11115 semapv:UnspecifiedMatching +OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:KDM5D semapv:UnspecifiedMatching OMIM:426000 KDM5D skos:exactMatch ncbigene:8284 semapv:UnspecifiedMatching -OMIM:430000 IL3RA skos:exactMatch hgnc:IL3RA semapv:UnspecifiedMatching +OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching +OMIM:430000 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching OMIM:430000 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching -OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc:CD99 semapv:UnspecifiedMatching +OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:7082 semapv:UnspecifiedMatching +OMIM:450000 cd99 antigen, y chromosome skos:exactMatch hgnc.symbol:CD99 semapv:UnspecifiedMatching OMIM:450000 cd99 antigen, y chromosome skos:exactMatch ncbigene:4267 semapv:UnspecifiedMatching -OMIM:465000 AKAP17A skos:exactMatch hgnc:AKAP17A semapv:UnspecifiedMatching +OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:18783 semapv:UnspecifiedMatching +OMIM:465000 AKAP17A skos:exactMatch hgnc.symbol:AKAP17A semapv:UnspecifiedMatching OMIM:465000 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching -OMIM:470000 RPS4Y1 skos:exactMatch hgnc:RPS4Y1 semapv:UnspecifiedMatching +OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:10425 semapv:UnspecifiedMatching +OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:RPS4Y1 semapv:UnspecifiedMatching OMIM:470000 RPS4Y1 skos:exactMatch ncbigene:6192 semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C1420418 semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching -OMIM:480000 SRY skos:exactMatch hgnc:SRY semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch hgnc.symbol:11311 semapv:UnspecifiedMatching +OMIM:480000 SRY skos:exactMatch hgnc.symbol:SRY semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch ncbigene:6736 semapv:UnspecifiedMatching -OMIM:480100 TSPY1 skos:exactMatch hgnc:TSPY1 semapv:UnspecifiedMatching +OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:12381 semapv:UnspecifiedMatching +OMIM:480100 TSPY1 skos:exactMatch hgnc.symbol:TSPY1 semapv:UnspecifiedMatching OMIM:480100 TSPY1 skos:exactMatch ncbigene:7258 semapv:UnspecifiedMatching -OMIM:490000 ZFY skos:exactMatch hgnc:ZFY semapv:UnspecifiedMatching +OMIM:490000 ZFY skos:exactMatch hgnc.symbol:12870 semapv:UnspecifiedMatching +OMIM:490000 ZFY skos:exactMatch hgnc.symbol:ZFY semapv:UnspecifiedMatching OMIM:490000 ZFY skos:exactMatch ncbigene:7544 semapv:UnspecifiedMatching +OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 semapv:UnspecifiedMatching OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch UMLS:C1839028 semapv:UnspecifiedMatching -OMIM:500002 mitochondrial myopathy with diabetes skos:exactMatch orphanet.ordo:2596 semapv:UnspecifiedMatching -OMIM:516000 MTND1 skos:exactMatch hgnc:MT-ND1 semapv:UnspecifiedMatching +OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:7455 semapv:UnspecifiedMatching +OMIM:516000 MTND1 skos:exactMatch hgnc.symbol:MT-ND1 semapv:UnspecifiedMatching OMIM:516000 MTND1 skos:exactMatch ncbigene:4535 semapv:UnspecifiedMatching -OMIM:516001 MTND2 skos:exactMatch hgnc:MT-ND2 semapv:UnspecifiedMatching +OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:7456 semapv:UnspecifiedMatching +OMIM:516001 MTND2 skos:exactMatch hgnc.symbol:MT-ND2 semapv:UnspecifiedMatching OMIM:516001 MTND2 skos:exactMatch ncbigene:4536 semapv:UnspecifiedMatching -OMIM:516002 MTND3 skos:exactMatch hgnc:MT-ND3 semapv:UnspecifiedMatching +OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:7458 semapv:UnspecifiedMatching +OMIM:516002 MTND3 skos:exactMatch hgnc.symbol:MT-ND3 semapv:UnspecifiedMatching OMIM:516002 MTND3 skos:exactMatch ncbigene:4537 semapv:UnspecifiedMatching -OMIM:516003 MTND4 skos:exactMatch hgnc:MT-ND4 semapv:UnspecifiedMatching +OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:7459 semapv:UnspecifiedMatching +OMIM:516003 MTND4 skos:exactMatch hgnc.symbol:MT-ND4 semapv:UnspecifiedMatching OMIM:516003 MTND4 skos:exactMatch ncbigene:4538 semapv:UnspecifiedMatching -OMIM:516004 MTND4L skos:exactMatch hgnc:MT-ND4L semapv:UnspecifiedMatching +OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:7460 semapv:UnspecifiedMatching +OMIM:516004 MTND4L skos:exactMatch hgnc.symbol:MT-ND4L semapv:UnspecifiedMatching OMIM:516004 MTND4L skos:exactMatch ncbigene:4539 semapv:UnspecifiedMatching -OMIM:516005 MTND5 skos:exactMatch hgnc:MT-ND5 semapv:UnspecifiedMatching +OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:7461 semapv:UnspecifiedMatching +OMIM:516005 MTND5 skos:exactMatch hgnc.symbol:MT-ND5 semapv:UnspecifiedMatching OMIM:516005 MTND5 skos:exactMatch ncbigene:4540 semapv:UnspecifiedMatching -OMIM:516006 MTND6 skos:exactMatch hgnc:MT-ND6 semapv:UnspecifiedMatching +OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:7462 semapv:UnspecifiedMatching +OMIM:516006 MTND6 skos:exactMatch hgnc.symbol:MT-ND6 semapv:UnspecifiedMatching OMIM:516006 MTND6 skos:exactMatch ncbigene:4541 semapv:UnspecifiedMatching -OMIM:516020 MTCYB skos:exactMatch hgnc:MT-CYB semapv:UnspecifiedMatching +OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:7427 semapv:UnspecifiedMatching +OMIM:516020 MTCYB skos:exactMatch hgnc.symbol:MT-CYB semapv:UnspecifiedMatching OMIM:516020 MTCYB skos:exactMatch ncbigene:4519 semapv:UnspecifiedMatching -OMIM:516030 MTCO1 skos:exactMatch hgnc:MT-CO1 semapv:UnspecifiedMatching +OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:7419 semapv:UnspecifiedMatching +OMIM:516030 MTCO1 skos:exactMatch hgnc.symbol:MT-CO1 semapv:UnspecifiedMatching OMIM:516030 MTCO1 skos:exactMatch ncbigene:4512 semapv:UnspecifiedMatching -OMIM:516040 MTCO2 skos:exactMatch hgnc:MT-CO2 semapv:UnspecifiedMatching +OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:7421 semapv:UnspecifiedMatching +OMIM:516040 MTCO2 skos:exactMatch hgnc.symbol:MT-CO2 semapv:UnspecifiedMatching OMIM:516040 MTCO2 skos:exactMatch ncbigene:4513 semapv:UnspecifiedMatching -OMIM:516050 MTCO3 skos:exactMatch hgnc:MT-CO3 semapv:UnspecifiedMatching +OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:7422 semapv:UnspecifiedMatching +OMIM:516050 MTCO3 skos:exactMatch hgnc.symbol:MT-CO3 semapv:UnspecifiedMatching OMIM:516050 MTCO3 skos:exactMatch ncbigene:4514 semapv:UnspecifiedMatching -OMIM:516060 MTATP6 skos:exactMatch hgnc:MT-ATP6 semapv:UnspecifiedMatching +OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:7414 semapv:UnspecifiedMatching +OMIM:516060 MTATP6 skos:exactMatch hgnc.symbol:MT-ATP6 semapv:UnspecifiedMatching OMIM:516060 MTATP6 skos:exactMatch ncbigene:4508 semapv:UnspecifiedMatching -OMIM:516070 MTATP8 skos:exactMatch hgnc:MT-ATP8 semapv:UnspecifiedMatching +OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:7415 semapv:UnspecifiedMatching +OMIM:516070 MTATP8 skos:exactMatch hgnc.symbol:MT-ATP8 semapv:UnspecifiedMatching OMIM:516070 MTATP8 skos:exactMatch ncbigene:4509 semapv:UnspecifiedMatching -OMIM:561000 MTRNR1 skos:exactMatch hgnc:MT-RNR1 semapv:UnspecifiedMatching +OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:7470 semapv:UnspecifiedMatching +OMIM:561000 MTRNR1 skos:exactMatch hgnc.symbol:MT-RNR1 semapv:UnspecifiedMatching OMIM:561000 MTRNR1 skos:exactMatch ncbigene:4549 semapv:UnspecifiedMatching -OMIM:561010 MTRNR2 skos:exactMatch hgnc:MT-RNR2 semapv:UnspecifiedMatching +OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:7471 semapv:UnspecifiedMatching +OMIM:561010 MTRNR2 skos:exactMatch hgnc.symbol:MT-RNR2 semapv:UnspecifiedMatching OMIM:561010 MTRNR2 skos:exactMatch ncbigene:4550 semapv:UnspecifiedMatching -OMIM:590000 MTTA skos:exactMatch hgnc:MT-TA semapv:UnspecifiedMatching +OMIM:590000 MTTA skos:exactMatch hgnc.symbol:7475 semapv:UnspecifiedMatching +OMIM:590000 MTTA skos:exactMatch hgnc.symbol:MT-TA semapv:UnspecifiedMatching OMIM:590000 MTTA skos:exactMatch ncbigene:4553 semapv:UnspecifiedMatching -OMIM:590005 MTTR skos:exactMatch hgnc:MT-TR semapv:UnspecifiedMatching +OMIM:590005 MTTR skos:exactMatch hgnc.symbol:7496 semapv:UnspecifiedMatching +OMIM:590005 MTTR skos:exactMatch hgnc.symbol:MT-TR semapv:UnspecifiedMatching OMIM:590005 MTTR skos:exactMatch ncbigene:4573 semapv:UnspecifiedMatching -OMIM:590010 MTTN skos:exactMatch hgnc:MT-TN semapv:UnspecifiedMatching +OMIM:590010 MTTN skos:exactMatch hgnc.symbol:7493 semapv:UnspecifiedMatching +OMIM:590010 MTTN skos:exactMatch hgnc.symbol:MT-TN semapv:UnspecifiedMatching OMIM:590010 MTTN skos:exactMatch ncbigene:4570 semapv:UnspecifiedMatching -OMIM:590015 MTTD skos:exactMatch hgnc:MT-TD semapv:UnspecifiedMatching +OMIM:590015 MTTD skos:exactMatch hgnc.symbol:7478 semapv:UnspecifiedMatching +OMIM:590015 MTTD skos:exactMatch hgnc.symbol:MT-TD semapv:UnspecifiedMatching OMIM:590015 MTTD skos:exactMatch ncbigene:4555 semapv:UnspecifiedMatching -OMIM:590020 MTTC skos:exactMatch hgnc:MT-TC semapv:UnspecifiedMatching +OMIM:590020 MTTC skos:exactMatch hgnc.symbol:7477 semapv:UnspecifiedMatching +OMIM:590020 MTTC skos:exactMatch hgnc.symbol:MT-TC semapv:UnspecifiedMatching OMIM:590020 MTTC skos:exactMatch ncbigene:4511 semapv:UnspecifiedMatching -OMIM:590025 MTTE skos:exactMatch hgnc:MT-TE semapv:UnspecifiedMatching +OMIM:590025 MTTE skos:exactMatch hgnc.symbol:7479 semapv:UnspecifiedMatching +OMIM:590025 MTTE skos:exactMatch hgnc.symbol:MT-TE semapv:UnspecifiedMatching OMIM:590025 MTTE skos:exactMatch ncbigene:4556 semapv:UnspecifiedMatching -OMIM:590030 MTTQ skos:exactMatch hgnc:MT-TQ semapv:UnspecifiedMatching +OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:7495 semapv:UnspecifiedMatching +OMIM:590030 MTTQ skos:exactMatch hgnc.symbol:MT-TQ semapv:UnspecifiedMatching OMIM:590030 MTTQ skos:exactMatch ncbigene:4572 semapv:UnspecifiedMatching -OMIM:590035 MTTG skos:exactMatch hgnc:MT-TG semapv:UnspecifiedMatching +OMIM:590035 MTTG skos:exactMatch hgnc.symbol:7486 semapv:UnspecifiedMatching +OMIM:590035 MTTG skos:exactMatch hgnc.symbol:MT-TG semapv:UnspecifiedMatching OMIM:590035 MTTG skos:exactMatch ncbigene:4563 semapv:UnspecifiedMatching -OMIM:590040 MTTH skos:exactMatch hgnc:MT-TH semapv:UnspecifiedMatching +OMIM:590040 MTTH skos:exactMatch hgnc.symbol:7487 semapv:UnspecifiedMatching +OMIM:590040 MTTH skos:exactMatch hgnc.symbol:MT-TH semapv:UnspecifiedMatching OMIM:590040 MTTH skos:exactMatch ncbigene:4564 semapv:UnspecifiedMatching -OMIM:590045 MTTI skos:exactMatch hgnc:MT-TI semapv:UnspecifiedMatching +OMIM:590045 MTTI skos:exactMatch hgnc.symbol:7488 semapv:UnspecifiedMatching +OMIM:590045 MTTI skos:exactMatch hgnc.symbol:MT-TI semapv:UnspecifiedMatching OMIM:590045 MTTI skos:exactMatch ncbigene:4565 semapv:UnspecifiedMatching -OMIM:590050 MTTL1 skos:exactMatch hgnc:MT-TL1 semapv:UnspecifiedMatching +OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:7490 semapv:UnspecifiedMatching +OMIM:590050 MTTL1 skos:exactMatch hgnc.symbol:MT-TL1 semapv:UnspecifiedMatching OMIM:590050 MTTL1 skos:exactMatch ncbigene:4567 semapv:UnspecifiedMatching -OMIM:590055 MTTL2 skos:exactMatch hgnc:MT-TL2 semapv:UnspecifiedMatching +OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:7491 semapv:UnspecifiedMatching +OMIM:590055 MTTL2 skos:exactMatch hgnc.symbol:MT-TL2 semapv:UnspecifiedMatching OMIM:590055 MTTL2 skos:exactMatch ncbigene:4568 semapv:UnspecifiedMatching -OMIM:590060 MTTK skos:exactMatch hgnc:MT-TK semapv:UnspecifiedMatching +OMIM:590060 MTTK skos:exactMatch hgnc.symbol:7489 semapv:UnspecifiedMatching +OMIM:590060 MTTK skos:exactMatch hgnc.symbol:MT-TK semapv:UnspecifiedMatching OMIM:590060 MTTK skos:exactMatch ncbigene:4566 semapv:UnspecifiedMatching -OMIM:590065 MTTM skos:exactMatch hgnc:MT-TM semapv:UnspecifiedMatching +OMIM:590065 MTTM skos:exactMatch hgnc.symbol:7492 semapv:UnspecifiedMatching +OMIM:590065 MTTM skos:exactMatch hgnc.symbol:MT-TM semapv:UnspecifiedMatching OMIM:590065 MTTM skos:exactMatch ncbigene:4569 semapv:UnspecifiedMatching -OMIM:590070 MTTF skos:exactMatch hgnc:MT-TF semapv:UnspecifiedMatching +OMIM:590070 MTTF skos:exactMatch hgnc.symbol:7481 semapv:UnspecifiedMatching +OMIM:590070 MTTF skos:exactMatch hgnc.symbol:MT-TF semapv:UnspecifiedMatching OMIM:590070 MTTF skos:exactMatch ncbigene:4558 semapv:UnspecifiedMatching -OMIM:590075 MTTP skos:exactMatch hgnc:MT-TP semapv:UnspecifiedMatching +OMIM:590075 MTTP skos:exactMatch hgnc.symbol:7494 semapv:UnspecifiedMatching +OMIM:590075 MTTP skos:exactMatch hgnc.symbol:MT-TP semapv:UnspecifiedMatching OMIM:590075 MTTP skos:exactMatch ncbigene:4571 semapv:UnspecifiedMatching -OMIM:590080 MTTS1 skos:exactMatch hgnc:MT-TS1 semapv:UnspecifiedMatching +OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:7497 semapv:UnspecifiedMatching +OMIM:590080 MTTS1 skos:exactMatch hgnc.symbol:MT-TS1 semapv:UnspecifiedMatching OMIM:590080 MTTS1 skos:exactMatch ncbigene:4574 semapv:UnspecifiedMatching -OMIM:590085 MTTS2 skos:exactMatch hgnc:MT-TS2 semapv:UnspecifiedMatching +OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:7498 semapv:UnspecifiedMatching +OMIM:590085 MTTS2 skos:exactMatch hgnc.symbol:MT-TS2 semapv:UnspecifiedMatching OMIM:590085 MTTS2 skos:exactMatch ncbigene:4575 semapv:UnspecifiedMatching -OMIM:590090 MTTT skos:exactMatch hgnc:MT-TT semapv:UnspecifiedMatching +OMIM:590090 MTTT skos:exactMatch hgnc.symbol:7499 semapv:UnspecifiedMatching +OMIM:590090 MTTT skos:exactMatch hgnc.symbol:MT-TT semapv:UnspecifiedMatching OMIM:590090 MTTT skos:exactMatch ncbigene:4576 semapv:UnspecifiedMatching -OMIM:590095 MTTW skos:exactMatch hgnc:MT-TW semapv:UnspecifiedMatching +OMIM:590095 MTTW skos:exactMatch hgnc.symbol:7501 semapv:UnspecifiedMatching +OMIM:590095 MTTW skos:exactMatch hgnc.symbol:MT-TW semapv:UnspecifiedMatching OMIM:590095 MTTW skos:exactMatch ncbigene:4578 semapv:UnspecifiedMatching -OMIM:590100 MTTY skos:exactMatch hgnc:MT-TY semapv:UnspecifiedMatching +OMIM:590100 MTTY skos:exactMatch hgnc.symbol:7502 semapv:UnspecifiedMatching +OMIM:590100 MTTY skos:exactMatch hgnc.symbol:MT-TY semapv:UnspecifiedMatching OMIM:590100 MTTY skos:exactMatch ncbigene:4579 semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch UMLS:C0023264 semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch UMLS:C1538016 semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch UMLS:C4016634 semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch UMLS:C5435765 semapv:UnspecifiedMatching -OMIM:590105 MTTV skos:exactMatch hgnc:MT-TV semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch hgnc.symbol:7500 semapv:UnspecifiedMatching +OMIM:590105 MTTV skos:exactMatch hgnc.symbol:MT-TV semapv:UnspecifiedMatching OMIM:590105 MTTV skos:exactMatch ncbigene:4577 semapv:UnspecifiedMatching +OMIM:600002 eiken syndrome skos:exactMatch Orphanet:79106 semapv:UnspecifiedMatching OMIM:600002 eiken syndrome skos:exactMatch UMLS:C1838779 semapv:UnspecifiedMatching -OMIM:600002 eiken syndrome skos:exactMatch orphanet.ordo:79106 semapv:UnspecifiedMatching -OMIM:600003 CACNB2 skos:exactMatch hgnc:CACNB2 semapv:UnspecifiedMatching +OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:1402 semapv:UnspecifiedMatching +OMIM:600003 CACNB2 skos:exactMatch hgnc.symbol:CACNB2 semapv:UnspecifiedMatching OMIM:600003 CACNB2 skos:exactMatch ncbigene:783 semapv:UnspecifiedMatching -OMIM:600004 EPHA5 skos:exactMatch hgnc:EPHA5 semapv:UnspecifiedMatching +OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:3389 semapv:UnspecifiedMatching +OMIM:600004 EPHA5 skos:exactMatch hgnc.symbol:EPHA5 semapv:UnspecifiedMatching OMIM:600004 EPHA5 skos:exactMatch ncbigene:2044 semapv:UnspecifiedMatching -OMIM:600005 CIITA skos:exactMatch hgnc:CIITA semapv:UnspecifiedMatching +OMIM:600005 CIITA skos:exactMatch hgnc.symbol:7067 semapv:UnspecifiedMatching +OMIM:600005 CIITA skos:exactMatch hgnc.symbol:CIITA semapv:UnspecifiedMatching OMIM:600005 CIITA skos:exactMatch ncbigene:4261 semapv:UnspecifiedMatching OMIM:600006 RFX1 skos:exactMatch UMLS:C1419359 semapv:UnspecifiedMatching -OMIM:600006 RFX1 skos:exactMatch hgnc:RFX1 semapv:UnspecifiedMatching +OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:9982 semapv:UnspecifiedMatching +OMIM:600006 RFX1 skos:exactMatch hgnc.symbol:RFX1 semapv:UnspecifiedMatching OMIM:600006 RFX1 skos:exactMatch ncbigene:5989 semapv:UnspecifiedMatching -OMIM:600007 FLT3LG skos:exactMatch hgnc:FLT3LG semapv:UnspecifiedMatching +OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:3766 semapv:UnspecifiedMatching +OMIM:600007 FLT3LG skos:exactMatch hgnc.symbol:FLT3LG semapv:UnspecifiedMatching OMIM:600007 FLT3LG skos:exactMatch ncbigene:2323 semapv:UnspecifiedMatching -OMIM:600008 NNMT skos:exactMatch hgnc:NNMT semapv:UnspecifiedMatching +OMIM:600008 NNMT skos:exactMatch hgnc.symbol:7861 semapv:UnspecifiedMatching +OMIM:600008 NNMT skos:exactMatch hgnc.symbol:NNMT semapv:UnspecifiedMatching OMIM:600008 NNMT skos:exactMatch ncbigene:4837 semapv:UnspecifiedMatching -OMIM:600009 IFI27 skos:exactMatch hgnc:IFI27 semapv:UnspecifiedMatching +OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:5397 semapv:UnspecifiedMatching +OMIM:600009 IFI27 skos:exactMatch hgnc.symbol:IFI27 semapv:UnspecifiedMatching OMIM:600009 IFI27 skos:exactMatch ncbigene:3429 semapv:UnspecifiedMatching -OMIM:600010 INSM1 skos:exactMatch hgnc:INSM1 semapv:UnspecifiedMatching +OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:6090 semapv:UnspecifiedMatching +OMIM:600010 INSM1 skos:exactMatch hgnc.symbol:INSM1 semapv:UnspecifiedMatching OMIM:600010 INSM1 skos:exactMatch ncbigene:3642 semapv:UnspecifiedMatching -OMIM:600011 EPHB4 skos:exactMatch hgnc:EPHB4 semapv:UnspecifiedMatching +OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:3395 semapv:UnspecifiedMatching +OMIM:600011 EPHB4 skos:exactMatch hgnc.symbol:EPHB4 semapv:UnspecifiedMatching OMIM:600011 EPHB4 skos:exactMatch ncbigene:2050 semapv:UnspecifiedMatching -OMIM:600012 UBE2L1 skos:exactMatch hgnc:UBE2L1 semapv:UnspecifiedMatching +OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:12486 semapv:UnspecifiedMatching +OMIM:600012 UBE2L1 skos:exactMatch hgnc.symbol:UBE2L1 semapv:UnspecifiedMatching OMIM:600012 UBE2L1 skos:exactMatch ncbigene:283556 semapv:UnspecifiedMatching -OMIM:600013 YY1 skos:exactMatch hgnc:YY1 semapv:UnspecifiedMatching +OMIM:600013 YY1 skos:exactMatch hgnc.symbol:12856 semapv:UnspecifiedMatching +OMIM:600013 YY1 skos:exactMatch hgnc.symbol:YY1 semapv:UnspecifiedMatching OMIM:600013 YY1 skos:exactMatch ncbigene:7528 semapv:UnspecifiedMatching -OMIM:600014 SMARCA2 skos:exactMatch hgnc:SMARCA2 semapv:UnspecifiedMatching +OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:11098 semapv:UnspecifiedMatching +OMIM:600014 SMARCA2 skos:exactMatch hgnc.symbol:SMARCA2 semapv:UnspecifiedMatching OMIM:600014 SMARCA2 skos:exactMatch ncbigene:6595 semapv:UnspecifiedMatching -OMIM:600016 CNTN1 skos:exactMatch hgnc:CNTN1 semapv:UnspecifiedMatching +OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:2171 semapv:UnspecifiedMatching +OMIM:600016 CNTN1 skos:exactMatch hgnc.symbol:CNTN1 semapv:UnspecifiedMatching OMIM:600016 CNTN1 skos:exactMatch ncbigene:1272 semapv:UnspecifiedMatching -OMIM:600017 SDC4 skos:exactMatch hgnc:SDC4 semapv:UnspecifiedMatching +OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:10661 semapv:UnspecifiedMatching +OMIM:600017 SDC4 skos:exactMatch hgnc.symbol:SDC4 semapv:UnspecifiedMatching OMIM:600017 SDC4 skos:exactMatch ncbigene:6385 semapv:UnspecifiedMatching -OMIM:600018 OPRM1 skos:exactMatch hgnc:OPRM1 semapv:UnspecifiedMatching +OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:8156 semapv:UnspecifiedMatching +OMIM:600018 OPRM1 skos:exactMatch hgnc.symbol:OPRM1 semapv:UnspecifiedMatching OMIM:600018 OPRM1 skos:exactMatch ncbigene:4988 semapv:UnspecifiedMatching -OMIM:600019 CYB561 skos:exactMatch hgnc:CYB561 semapv:UnspecifiedMatching +OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:2571 semapv:UnspecifiedMatching +OMIM:600019 CYB561 skos:exactMatch hgnc.symbol:CYB561 semapv:UnspecifiedMatching OMIM:600019 CYB561 skos:exactMatch ncbigene:1534 semapv:UnspecifiedMatching -OMIM:600020 MXI1 skos:exactMatch hgnc:MXI1 semapv:UnspecifiedMatching +OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:7534 semapv:UnspecifiedMatching +OMIM:600020 MXI1 skos:exactMatch hgnc.symbol:MXI1 semapv:UnspecifiedMatching OMIM:600020 MXI1 skos:exactMatch ncbigene:4601 semapv:UnspecifiedMatching -OMIM:600021 MXD1 skos:exactMatch hgnc:MXD1 semapv:UnspecifiedMatching +OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:6761 semapv:UnspecifiedMatching +OMIM:600021 MXD1 skos:exactMatch hgnc.symbol:MXD1 semapv:UnspecifiedMatching OMIM:600021 MXD1 skos:exactMatch ncbigene:4084 semapv:UnspecifiedMatching -OMIM:600022 PTGIR skos:exactMatch hgnc:PTGIR semapv:UnspecifiedMatching +OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:9602 semapv:UnspecifiedMatching +OMIM:600022 PTGIR skos:exactMatch hgnc.symbol:PTGIR semapv:UnspecifiedMatching OMIM:600022 PTGIR skos:exactMatch ncbigene:5739 semapv:UnspecifiedMatching OMIM:600023 CDH11 skos:exactMatch UMLS:C0809936 semapv:UnspecifiedMatching OMIM:600023 CDH11 skos:exactMatch UMLS:C1413269 semapv:UnspecifiedMatching -OMIM:600023 CDH11 skos:exactMatch hgnc:CDH11 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:1750 semapv:UnspecifiedMatching +OMIM:600023 CDH11 skos:exactMatch hgnc.symbol:CDH11 semapv:UnspecifiedMatching OMIM:600023 CDH11 skos:exactMatch ncbigene:1009 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C0030779 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C0748397 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C1416802 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C2931048 semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch UMLS:C4747922 semapv:UnspecifiedMatching -OMIM:600024 LBR skos:exactMatch hgnc:LBR semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch hgnc.symbol:6518 semapv:UnspecifiedMatching +OMIM:600024 LBR skos:exactMatch hgnc.symbol:LBR semapv:UnspecifiedMatching OMIM:600024 LBR skos:exactMatch ncbigene:3930 semapv:UnspecifiedMatching -OMIM:600025 KLC1 skos:exactMatch hgnc:KLC1 semapv:UnspecifiedMatching +OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:6387 semapv:UnspecifiedMatching +OMIM:600025 KLC1 skos:exactMatch hgnc.symbol:KLC1 semapv:UnspecifiedMatching OMIM:600025 KLC1 skos:exactMatch ncbigene:3831 semapv:UnspecifiedMatching -OMIM:600026 SNTB1 skos:exactMatch hgnc:SNTB1 semapv:UnspecifiedMatching +OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:11168 semapv:UnspecifiedMatching +OMIM:600026 SNTB1 skos:exactMatch hgnc.symbol:SNTB1 semapv:UnspecifiedMatching OMIM:600026 SNTB1 skos:exactMatch ncbigene:6641 semapv:UnspecifiedMatching -OMIM:600027 SNTB2 skos:exactMatch hgnc:SNTB2 semapv:UnspecifiedMatching +OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:11169 semapv:UnspecifiedMatching +OMIM:600027 SNTB2 skos:exactMatch hgnc.symbol:SNTB2 semapv:UnspecifiedMatching OMIM:600027 SNTB2 skos:exactMatch ncbigene:6645 semapv:UnspecifiedMatching -OMIM:600028 DLX5 skos:exactMatch hgnc:DLX5 semapv:UnspecifiedMatching +OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:2918 semapv:UnspecifiedMatching +OMIM:600028 DLX5 skos:exactMatch hgnc.symbol:DLX5 semapv:UnspecifiedMatching OMIM:600028 DLX5 skos:exactMatch ncbigene:1749 semapv:UnspecifiedMatching -OMIM:600029 DLX1 skos:exactMatch hgnc:DLX1 semapv:UnspecifiedMatching +OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:2914 semapv:UnspecifiedMatching +OMIM:600029 DLX1 skos:exactMatch hgnc.symbol:DLX1 semapv:UnspecifiedMatching OMIM:600029 DLX1 skos:exactMatch ncbigene:1745 semapv:UnspecifiedMatching -OMIM:600030 DLX6 skos:exactMatch hgnc:DLX6 semapv:UnspecifiedMatching +OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:2919 semapv:UnspecifiedMatching +OMIM:600030 DLX6 skos:exactMatch hgnc.symbol:DLX6 semapv:UnspecifiedMatching OMIM:600030 DLX6 skos:exactMatch ncbigene:1750 semapv:UnspecifiedMatching -OMIM:600031 CHIT1 skos:exactMatch hgnc:CHIT1 semapv:UnspecifiedMatching +OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:1936 semapv:UnspecifiedMatching +OMIM:600031 CHIT1 skos:exactMatch hgnc.symbol:CHIT1 semapv:UnspecifiedMatching OMIM:600031 CHIT1 skos:exactMatch ncbigene:1118 semapv:UnspecifiedMatching -OMIM:600033 TFPI2 skos:exactMatch hgnc:TFPI2 semapv:UnspecifiedMatching +OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:11761 semapv:UnspecifiedMatching +OMIM:600033 TFPI2 skos:exactMatch hgnc.symbol:TFPI2 semapv:UnspecifiedMatching OMIM:600033 TFPI2 skos:exactMatch ncbigene:7980 semapv:UnspecifiedMatching -OMIM:600034 EMX1 skos:exactMatch hgnc:EMX1 semapv:UnspecifiedMatching +OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:3340 semapv:UnspecifiedMatching +OMIM:600034 EMX1 skos:exactMatch hgnc.symbol:EMX1 semapv:UnspecifiedMatching OMIM:600034 EMX1 skos:exactMatch ncbigene:2016 semapv:UnspecifiedMatching -OMIM:600035 EMX2 skos:exactMatch hgnc:EMX2 semapv:UnspecifiedMatching +OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:3341 semapv:UnspecifiedMatching +OMIM:600035 EMX2 skos:exactMatch hgnc.symbol:EMX2 semapv:UnspecifiedMatching OMIM:600035 EMX2 skos:exactMatch ncbigene:2018 semapv:UnspecifiedMatching -OMIM:600036 OTX1 skos:exactMatch hgnc:OTX1 semapv:UnspecifiedMatching +OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:8521 semapv:UnspecifiedMatching +OMIM:600036 OTX1 skos:exactMatch hgnc.symbol:OTX1 semapv:UnspecifiedMatching OMIM:600036 OTX1 skos:exactMatch ncbigene:5013 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C1418202 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C1864690 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C3149814 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C3151440 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch UMLS:C4225589 semapv:UnspecifiedMatching -OMIM:600037 OTX2 skos:exactMatch hgnc:OTX2 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:8522 semapv:UnspecifiedMatching +OMIM:600037 OTX2 skos:exactMatch hgnc.symbol:OTX2 semapv:UnspecifiedMatching OMIM:600037 OTX2 skos:exactMatch ncbigene:5015 semapv:UnspecifiedMatching -OMIM:600038 MATK skos:exactMatch hgnc:MATK semapv:UnspecifiedMatching +OMIM:600038 MATK skos:exactMatch hgnc.symbol:6906 semapv:UnspecifiedMatching +OMIM:600038 MATK skos:exactMatch hgnc.symbol:MATK semapv:UnspecifiedMatching OMIM:600038 MATK skos:exactMatch ncbigene:4145 semapv:UnspecifiedMatching OMIM:600039 BCL2L1 skos:exactMatch UMLS:C1332397 semapv:UnspecifiedMatching -OMIM:600039 BCL2L1 skos:exactMatch hgnc:BCL2L1 semapv:UnspecifiedMatching +OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:992 semapv:UnspecifiedMatching +OMIM:600039 BCL2L1 skos:exactMatch hgnc.symbol:BCL2L1 semapv:UnspecifiedMatching OMIM:600039 BCL2L1 skos:exactMatch ncbigene:598 semapv:UnspecifiedMatching -OMIM:600040 BAX skos:exactMatch hgnc:BAX semapv:UnspecifiedMatching +OMIM:600040 BAX skos:exactMatch hgnc.symbol:959 semapv:UnspecifiedMatching +OMIM:600040 BAX skos:exactMatch hgnc.symbol:BAX semapv:UnspecifiedMatching OMIM:600040 BAX skos:exactMatch ncbigene:581 semapv:UnspecifiedMatching -OMIM:600041 P2RY2 skos:exactMatch hgnc:P2RY2 semapv:UnspecifiedMatching +OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:8541 semapv:UnspecifiedMatching +OMIM:600041 P2RY2 skos:exactMatch hgnc.symbol:P2RY2 semapv:UnspecifiedMatching OMIM:600041 P2RY2 skos:exactMatch ncbigene:5029 semapv:UnspecifiedMatching -OMIM:600042 MC5R skos:exactMatch hgnc:MC5R semapv:UnspecifiedMatching +OMIM:600042 MC5R skos:exactMatch hgnc.symbol:6933 semapv:UnspecifiedMatching +OMIM:600042 MC5R skos:exactMatch hgnc.symbol:MC5R semapv:UnspecifiedMatching OMIM:600042 MC5R skos:exactMatch ncbigene:4161 semapv:UnspecifiedMatching -OMIM:600043 SULT1E1 skos:exactMatch hgnc:SULT1E1 semapv:UnspecifiedMatching +OMIM:600043 SULT1E1 skos:exactMatch hgnc.symbol:11377 semapv:UnspecifiedMatching +OMIM:600043 SULT1E1 skos:exactMatch hgnc.symbol:SULT1E1 semapv:UnspecifiedMatching OMIM:600043 SULT1E1 skos:exactMatch ncbigene:6783 semapv:UnspecifiedMatching -OMIM:600044 THPO skos:exactMatch hgnc:THPO semapv:UnspecifiedMatching +OMIM:600044 THPO skos:exactMatch hgnc.symbol:11795 semapv:UnspecifiedMatching +OMIM:600044 THPO skos:exactMatch hgnc.symbol:THPO semapv:UnspecifiedMatching OMIM:600044 THPO skos:exactMatch ncbigene:7066 semapv:UnspecifiedMatching -OMIM:600045 DDB1 skos:exactMatch hgnc:DDB1 semapv:UnspecifiedMatching +OMIM:600045 DDB1 skos:exactMatch hgnc.symbol:2717 semapv:UnspecifiedMatching +OMIM:600045 DDB1 skos:exactMatch hgnc.symbol:DDB1 semapv:UnspecifiedMatching OMIM:600045 DDB1 skos:exactMatch ncbigene:1642 semapv:UnspecifiedMatching -OMIM:600046 ABCA1 skos:exactMatch hgnc:ABCA1 semapv:UnspecifiedMatching +OMIM:600046 ABCA1 skos:exactMatch hgnc.symbol:29 semapv:UnspecifiedMatching +OMIM:600046 ABCA1 skos:exactMatch hgnc.symbol:ABCA1 semapv:UnspecifiedMatching OMIM:600046 ABCA1 skos:exactMatch ncbigene:19 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch UMLS:C1412061 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394564 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch UMLS:C5394565 semapv:UnspecifiedMatching -OMIM:600047 ABCA2 skos:exactMatch hgnc:ABCA2 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:32 semapv:UnspecifiedMatching +OMIM:600047 ABCA2 skos:exactMatch hgnc.symbol:ABCA2 semapv:UnspecifiedMatching OMIM:600047 ABCA2 skos:exactMatch ncbigene:20 semapv:UnspecifiedMatching -OMIM:600050 MAP3K11 skos:exactMatch hgnc:MAP3K11 semapv:UnspecifiedMatching +OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:6850 semapv:UnspecifiedMatching +OMIM:600050 MAP3K11 skos:exactMatch hgnc.symbol:MAP3K11 semapv:UnspecifiedMatching OMIM:600050 MAP3K11 skos:exactMatch ncbigene:4296 semapv:UnspecifiedMatching OMIM:600051 EPS15 skos:exactMatch UMLS:C1333343 semapv:UnspecifiedMatching -OMIM:600051 EPS15 skos:exactMatch hgnc:EPS15 semapv:UnspecifiedMatching +OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:3419 semapv:UnspecifiedMatching +OMIM:600051 EPS15 skos:exactMatch hgnc.symbol:EPS15 semapv:UnspecifiedMatching OMIM:600051 EPS15 skos:exactMatch ncbigene:2060 semapv:UnspecifiedMatching -OMIM:600052 APLNR skos:exactMatch hgnc:APLNR semapv:UnspecifiedMatching +OMIM:600052 APLNR skos:exactMatch hgnc.symbol:339 semapv:UnspecifiedMatching +OMIM:600052 APLNR skos:exactMatch hgnc.symbol:APLNR semapv:UnspecifiedMatching OMIM:600052 APLNR skos:exactMatch ncbigene:187 semapv:UnspecifiedMatching -OMIM:600053 CNGA3 skos:exactMatch hgnc:CNGA3 semapv:UnspecifiedMatching +OMIM:600053 CNGA3 skos:exactMatch hgnc.symbol:2150 semapv:UnspecifiedMatching +OMIM:600053 CNGA3 skos:exactMatch hgnc.symbol:CNGA3 semapv:UnspecifiedMatching OMIM:600053 CNGA3 skos:exactMatch ncbigene:1261 semapv:UnspecifiedMatching +OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:322 semapv:UnspecifiedMatching +OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch Orphanet:93930 semapv:UnspecifiedMatching OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch UMLS:C1838703 semapv:UnspecifiedMatching -OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch orphanet.ordo:322 semapv:UnspecifiedMatching -OMIM:600057 bladder exstrophy and epispadias complex skos:exactMatch orphanet.ordo:93930 semapv:UnspecifiedMatching -OMIM:600058 TXK skos:exactMatch hgnc:TXK semapv:UnspecifiedMatching +OMIM:600058 TXK skos:exactMatch hgnc.symbol:12434 semapv:UnspecifiedMatching +OMIM:600058 TXK skos:exactMatch hgnc.symbol:TXK semapv:UnspecifiedMatching OMIM:600058 TXK skos:exactMatch ncbigene:7294 semapv:UnspecifiedMatching +OMIM:600059 retinitis pigmentosa 13 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:600059 retinitis pigmentosa 13 skos:exactMatch UMLS:C1838702 semapv:UnspecifiedMatching -OMIM:600059 retinitis pigmentosa 13 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching -OMIM:600061 RAD23A skos:exactMatch hgnc:RAD23A semapv:UnspecifiedMatching +OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:9812 semapv:UnspecifiedMatching +OMIM:600061 RAD23A skos:exactMatch hgnc.symbol:RAD23A semapv:UnspecifiedMatching OMIM:600061 RAD23A skos:exactMatch ncbigene:5886 semapv:UnspecifiedMatching OMIM:600062 RAD23B skos:exactMatch UMLS:C1419237 semapv:UnspecifiedMatching -OMIM:600062 RAD23B skos:exactMatch hgnc:RAD23B semapv:UnspecifiedMatching +OMIM:600062 RAD23B skos:exactMatch hgnc.symbol:9813 semapv:UnspecifiedMatching +OMIM:600062 RAD23B skos:exactMatch hgnc.symbol:RAD23B semapv:UnspecifiedMatching OMIM:600062 RAD23B skos:exactMatch ncbigene:5887 semapv:UnspecifiedMatching -OMIM:600063 TROVE2 skos:exactMatch hgnc:RO60 semapv:UnspecifiedMatching +OMIM:600063 TROVE2 skos:exactMatch hgnc.symbol:11313 semapv:UnspecifiedMatching +OMIM:600063 TROVE2 skos:exactMatch hgnc.symbol:RO60 semapv:UnspecifiedMatching OMIM:600063 TROVE2 skos:exactMatch ncbigene:6738 semapv:UnspecifiedMatching -OMIM:600064 KRTAP11-1 skos:exactMatch hgnc:KRTAP11-1 semapv:UnspecifiedMatching +OMIM:600064 KRTAP11-1 skos:exactMatch hgnc.symbol:18922 semapv:UnspecifiedMatching +OMIM:600064 KRTAP11-1 skos:exactMatch hgnc.symbol:KRTAP11-1 semapv:UnspecifiedMatching OMIM:600064 KRTAP11-1 skos:exactMatch ncbigene:337880 semapv:UnspecifiedMatching -OMIM:600065 ITGB2 skos:exactMatch hgnc:ITGB2 semapv:UnspecifiedMatching +OMIM:600065 ITGB2 skos:exactMatch hgnc.symbol:6155 semapv:UnspecifiedMatching +OMIM:600065 ITGB2 skos:exactMatch hgnc.symbol:ITGB2 semapv:UnspecifiedMatching OMIM:600065 ITGB2 skos:exactMatch ncbigene:3689 semapv:UnspecifiedMatching -OMIM:600066 EPHA6 skos:exactMatch hgnc:EPHA6 semapv:UnspecifiedMatching +OMIM:600066 EPHA6 skos:exactMatch hgnc.symbol:19296 semapv:UnspecifiedMatching +OMIM:600066 EPHA6 skos:exactMatch hgnc.symbol:EPHA6 semapv:UnspecifiedMatching OMIM:600066 EPHA6 skos:exactMatch ncbigene:285220 semapv:UnspecifiedMatching -OMIM:600067 UGT2B4 skos:exactMatch hgnc:UGT2B4 semapv:UnspecifiedMatching +OMIM:600067 UGT2B4 skos:exactMatch hgnc.symbol:12553 semapv:UnspecifiedMatching +OMIM:600067 UGT2B4 skos:exactMatch hgnc.symbol:UGT2B4 semapv:UnspecifiedMatching OMIM:600067 UGT2B4 skos:exactMatch ncbigene:7363 semapv:UnspecifiedMatching -OMIM:600068 UGT2B7 skos:exactMatch hgnc:UGT2B7 semapv:UnspecifiedMatching +OMIM:600068 UGT2B7 skos:exactMatch hgnc.symbol:12554 semapv:UnspecifiedMatching +OMIM:600068 UGT2B7 skos:exactMatch hgnc.symbol:UGT2B7 semapv:UnspecifiedMatching OMIM:600068 UGT2B7 skos:exactMatch ncbigene:7364 semapv:UnspecifiedMatching -OMIM:600069 UGT2B15 skos:exactMatch hgnc:UGT2B15 semapv:UnspecifiedMatching +OMIM:600069 UGT2B15 skos:exactMatch hgnc.symbol:12546 semapv:UnspecifiedMatching +OMIM:600069 UGT2B15 skos:exactMatch hgnc.symbol:UGT2B15 semapv:UnspecifiedMatching OMIM:600069 UGT2B15 skos:exactMatch ncbigene:7366 semapv:UnspecifiedMatching -OMIM:600070 UGT2B10 skos:exactMatch hgnc:UGT2B10 semapv:UnspecifiedMatching +OMIM:600070 UGT2B10 skos:exactMatch hgnc.symbol:12544 semapv:UnspecifiedMatching +OMIM:600070 UGT2B10 skos:exactMatch hgnc.symbol:UGT2B10 semapv:UnspecifiedMatching OMIM:600070 UGT2B10 skos:exactMatch ncbigene:7365 semapv:UnspecifiedMatching -OMIM:600073 LRP2 skos:exactMatch hgnc:LRP2 semapv:UnspecifiedMatching +OMIM:600073 LRP2 skos:exactMatch hgnc.symbol:6694 semapv:UnspecifiedMatching +OMIM:600073 LRP2 skos:exactMatch hgnc.symbol:LRP2 semapv:UnspecifiedMatching OMIM:600073 LRP2 skos:exactMatch ncbigene:4036 semapv:UnspecifiedMatching -OMIM:600074 CD24 skos:exactMatch hgnc:CD24 semapv:UnspecifiedMatching +OMIM:600074 CD24 skos:exactMatch hgnc.symbol:1645 semapv:UnspecifiedMatching +OMIM:600074 CD24 skos:exactMatch hgnc.symbol:CD24 semapv:UnspecifiedMatching OMIM:600074 CD24 skos:exactMatch ncbigene:100133941 semapv:UnspecifiedMatching -OMIM:600075 TBP skos:exactMatch hgnc:TBP semapv:UnspecifiedMatching +OMIM:600075 TBP skos:exactMatch hgnc.symbol:11588 semapv:UnspecifiedMatching +OMIM:600075 TBP skos:exactMatch hgnc.symbol:TBP semapv:UnspecifiedMatching OMIM:600075 TBP skos:exactMatch ncbigene:6908 semapv:UnspecifiedMatching -OMIM:600076 TNS1 skos:exactMatch hgnc:TNS1 semapv:UnspecifiedMatching +OMIM:600076 TNS1 skos:exactMatch hgnc.symbol:11973 semapv:UnspecifiedMatching +OMIM:600076 TNS1 skos:exactMatch hgnc.symbol:TNS1 semapv:UnspecifiedMatching OMIM:600076 TNS1 skos:exactMatch ncbigene:7145 semapv:UnspecifiedMatching -OMIM:600079 PTPN12 skos:exactMatch hgnc:PTPN12 semapv:UnspecifiedMatching +OMIM:600079 PTPN12 skos:exactMatch hgnc.symbol:9645 semapv:UnspecifiedMatching +OMIM:600079 PTPN12 skos:exactMatch hgnc.symbol:PTPN12 semapv:UnspecifiedMatching OMIM:600079 PTPN12 skos:exactMatch ncbigene:5782 semapv:UnspecifiedMatching +OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch Orphanet:289157 semapv:UnspecifiedMatching OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching -OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b skos:exactMatch orphanet.ordo:289157 semapv:UnspecifiedMatching -OMIM:600085 SYK skos:exactMatch hgnc:SYK semapv:UnspecifiedMatching +OMIM:600085 SYK skos:exactMatch hgnc.symbol:11491 semapv:UnspecifiedMatching +OMIM:600085 SYK skos:exactMatch hgnc.symbol:SYK semapv:UnspecifiedMatching OMIM:600085 SYK skos:exactMatch ncbigene:6850 semapv:UnspecifiedMatching -OMIM:600086 ADH7 skos:exactMatch hgnc:ADH7 semapv:UnspecifiedMatching +OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:256 semapv:UnspecifiedMatching +OMIM:600086 ADH7 skos:exactMatch hgnc.symbol:ADH7 semapv:UnspecifiedMatching OMIM:600086 ADH7 skos:exactMatch ncbigene:131 semapv:UnspecifiedMatching -OMIM:600087 TUFT1 skos:exactMatch hgnc:TUFT1 semapv:UnspecifiedMatching +OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:12422 semapv:UnspecifiedMatching +OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:TUFT1 semapv:UnspecifiedMatching OMIM:600087 TUFT1 skos:exactMatch ncbigene:7286 semapv:UnspecifiedMatching +OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching -OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch orphanet.ordo:1422 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch UMLS:C1335647 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch UMLS:C5231432 semapv:UnspecifiedMatching -OMIM:600098 RRAS2 skos:exactMatch hgnc:RRAS2 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:17271 semapv:UnspecifiedMatching +OMIM:600098 RRAS2 skos:exactMatch hgnc.symbol:RRAS2 semapv:UnspecifiedMatching OMIM:600098 RRAS2 skos:exactMatch ncbigene:22800 semapv:UnspecifiedMatching -OMIM:600103 SYT4 skos:exactMatch hgnc:SYT4 semapv:UnspecifiedMatching +OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:11512 semapv:UnspecifiedMatching +OMIM:600103 SYT4 skos:exactMatch hgnc.symbol:SYT4 semapv:UnspecifiedMatching OMIM:600103 SYT4 skos:exactMatch ncbigene:6860 semapv:UnspecifiedMatching -OMIM:600104 SYT2 skos:exactMatch hgnc:SYT2 semapv:UnspecifiedMatching +OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:11510 semapv:UnspecifiedMatching +OMIM:600104 SYT2 skos:exactMatch hgnc.symbol:SYT2 semapv:UnspecifiedMatching OMIM:600104 SYT2 skos:exactMatch ncbigene:127833 semapv:UnspecifiedMatching -OMIM:600106 INPP5A skos:exactMatch hgnc:INPP5A semapv:UnspecifiedMatching +OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:6076 semapv:UnspecifiedMatching +OMIM:600106 INPP5A skos:exactMatch hgnc.symbol:INPP5A semapv:UnspecifiedMatching OMIM:600106 INPP5A skos:exactMatch ncbigene:3632 semapv:UnspecifiedMatching OMIM:600108 MMP13 skos:exactMatch UMLS:C0432225 semapv:UnspecifiedMatching OMIM:600108 MMP13 skos:exactMatch UMLS:C1417202 semapv:UnspecifiedMatching OMIM:600108 MMP13 skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching OMIM:600108 MMP13 skos:exactMatch UMLS:C4016643 semapv:UnspecifiedMatching -OMIM:600108 MMP13 skos:exactMatch hgnc:MMP13 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch hgnc.symbol:7159 semapv:UnspecifiedMatching +OMIM:600108 MMP13 skos:exactMatch hgnc.symbol:MMP13 semapv:UnspecifiedMatching OMIM:600108 MMP13 skos:exactMatch ncbigene:4322 semapv:UnspecifiedMatching -OMIM:600111 SLC1A3 skos:exactMatch hgnc:SLC1A3 semapv:UnspecifiedMatching +OMIM:600111 SLC1A3 skos:exactMatch hgnc.symbol:10941 semapv:UnspecifiedMatching +OMIM:600111 SLC1A3 skos:exactMatch hgnc.symbol:SLC1A3 semapv:UnspecifiedMatching OMIM:600111 SLC1A3 skos:exactMatch ncbigene:6507 semapv:UnspecifiedMatching -OMIM:600112 DYNC1H1 skos:exactMatch hgnc:DYNC1H1 semapv:UnspecifiedMatching +OMIM:600112 DYNC1H1 skos:exactMatch hgnc.symbol:2961 semapv:UnspecifiedMatching +OMIM:600112 DYNC1H1 skos:exactMatch hgnc.symbol:DYNC1H1 semapv:UnspecifiedMatching OMIM:600112 DYNC1H1 skos:exactMatch ncbigene:1778 semapv:UnspecifiedMatching -OMIM:600114 CCT3 skos:exactMatch hgnc:CCT3 semapv:UnspecifiedMatching +OMIM:600114 CCT3 skos:exactMatch hgnc.symbol:1616 semapv:UnspecifiedMatching +OMIM:600114 CCT3 skos:exactMatch hgnc.symbol:CCT3 semapv:UnspecifiedMatching OMIM:600114 CCT3 skos:exactMatch ncbigene:7203 semapv:UnspecifiedMatching -OMIM:600119 SGCA skos:exactMatch hgnc:SGCA semapv:UnspecifiedMatching +OMIM:600119 SGCA skos:exactMatch hgnc.symbol:10805 semapv:UnspecifiedMatching +OMIM:600119 SGCA skos:exactMatch hgnc.symbol:SGCA semapv:UnspecifiedMatching OMIM:600119 SGCA skos:exactMatch ncbigene:6442 semapv:UnspecifiedMatching +OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch Orphanet:1352 semapv:UnspecifiedMatching OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch UMLS:C1838606 semapv:UnspecifiedMatching -OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects skos:exactMatch orphanet.ordo:1352 semapv:UnspecifiedMatching -OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc:HNRNPA2B1 semapv:UnspecifiedMatching +OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:5033 semapv:UnspecifiedMatching +OMIM:600124 HNRNPA2B1 skos:exactMatch hgnc.symbol:HNRNPA2B1 semapv:UnspecifiedMatching OMIM:600124 HNRNPA2B1 skos:exactMatch ncbigene:3181 semapv:UnspecifiedMatching OMIM:600126 PDE4A skos:exactMatch UMLS:C1418420 semapv:UnspecifiedMatching -OMIM:600126 PDE4A skos:exactMatch hgnc:PDE4A semapv:UnspecifiedMatching +OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:8780 semapv:UnspecifiedMatching +OMIM:600126 PDE4A skos:exactMatch hgnc.symbol:PDE4A semapv:UnspecifiedMatching OMIM:600126 PDE4A skos:exactMatch ncbigene:5141 semapv:UnspecifiedMatching OMIM:600127 PDE4B skos:exactMatch UMLS:C1418421 semapv:UnspecifiedMatching -OMIM:600127 PDE4B skos:exactMatch hgnc:PDE4B semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:8781 semapv:UnspecifiedMatching +OMIM:600127 PDE4B skos:exactMatch hgnc.symbol:PDE4B semapv:UnspecifiedMatching OMIM:600127 PDE4B skos:exactMatch ncbigene:5142 semapv:UnspecifiedMatching OMIM:600128 PDE4C skos:exactMatch UMLS:C1418422 semapv:UnspecifiedMatching -OMIM:600128 PDE4C skos:exactMatch hgnc:PDE4C semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:8782 semapv:UnspecifiedMatching +OMIM:600128 PDE4C skos:exactMatch hgnc.symbol:PDE4C semapv:UnspecifiedMatching OMIM:600128 PDE4C skos:exactMatch ncbigene:5143 semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch UMLS:C1418423 semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch UMLS:C4016646 semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch UMLS:C4016647 semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch UMLS:C4016648 semapv:UnspecifiedMatching -OMIM:600129 PDE4D skos:exactMatch hgnc:PDE4D semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:8783 semapv:UnspecifiedMatching +OMIM:600129 PDE4D skos:exactMatch hgnc.symbol:PDE4D semapv:UnspecifiedMatching OMIM:600129 PDE4D skos:exactMatch ncbigene:5144 semapv:UnspecifiedMatching -OMIM:600130 APOBEC1 skos:exactMatch hgnc:APOBEC1 semapv:UnspecifiedMatching +OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:604 semapv:UnspecifiedMatching +OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:APOBEC1 semapv:UnspecifiedMatching OMIM:600130 APOBEC1 skos:exactMatch ncbigene:339 semapv:UnspecifiedMatching -OMIM:600133 LAMA4 skos:exactMatch hgnc:LAMA4 semapv:UnspecifiedMatching +OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:6484 semapv:UnspecifiedMatching +OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:LAMA4 semapv:UnspecifiedMatching OMIM:600133 LAMA4 skos:exactMatch ncbigene:3910 semapv:UnspecifiedMatching OMIM:600135 CTXN1 skos:exactMatch UMLS:C1429080 semapv:UnspecifiedMatching -OMIM:600135 CTXN1 skos:exactMatch hgnc:CTXN1 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:31108 semapv:UnspecifiedMatching +OMIM:600135 CTXN1 skos:exactMatch hgnc.symbol:CTXN1 semapv:UnspecifiedMatching OMIM:600135 CTXN1 skos:exactMatch ncbigene:404217 semapv:UnspecifiedMatching -OMIM:600136 MAP3K9 skos:exactMatch hgnc:MAP3K9 semapv:UnspecifiedMatching +OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:6861 semapv:UnspecifiedMatching +OMIM:600136 MAP3K9 skos:exactMatch hgnc.symbol:MAP3K9 semapv:UnspecifiedMatching OMIM:600136 MAP3K9 skos:exactMatch ncbigene:4293 semapv:UnspecifiedMatching -OMIM:600137 MAP3K10 skos:exactMatch hgnc:MAP3K10 semapv:UnspecifiedMatching +OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:6849 semapv:UnspecifiedMatching +OMIM:600137 MAP3K10 skos:exactMatch hgnc.symbol:MAP3K10 semapv:UnspecifiedMatching OMIM:600137 MAP3K10 skos:exactMatch ncbigene:4294 semapv:UnspecifiedMatching -OMIM:600140 CREBBP skos:exactMatch hgnc:CREBBP semapv:UnspecifiedMatching +OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:2348 semapv:UnspecifiedMatching +OMIM:600140 CREBBP skos:exactMatch hgnc.symbol:CREBBP semapv:UnspecifiedMatching OMIM:600140 CREBBP skos:exactMatch ncbigene:1387 semapv:UnspecifiedMatching -OMIM:600141 HSPE1 skos:exactMatch hgnc:HSPE1 semapv:UnspecifiedMatching +OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:5269 semapv:UnspecifiedMatching +OMIM:600141 HSPE1 skos:exactMatch hgnc.symbol:HSPE1 semapv:UnspecifiedMatching OMIM:600141 HSPE1 skos:exactMatch ncbigene:3336 semapv:UnspecifiedMatching +OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch Orphanet:199354 semapv:UnspecifiedMatching OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch UMLS:C1838577 semapv:UnspecifiedMatching -OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy skos:exactMatch orphanet.ordo:199354 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:228354 semapv:UnspecifiedMatching +OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch Orphanet:79264 semapv:UnspecifiedMatching OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch orphanet.ordo:168491 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch orphanet.ordo:228354 semapv:UnspecifiedMatching -OMIM:600143 ceroid lipofuscinosis, neuronal, 8 skos:exactMatch orphanet.ordo:79264 semapv:UnspecifiedMatching -OMIM:600144 ITPR2 skos:exactMatch hgnc:ITPR2 semapv:UnspecifiedMatching +OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:6181 semapv:UnspecifiedMatching +OMIM:600144 ITPR2 skos:exactMatch hgnc.symbol:ITPR2 semapv:UnspecifiedMatching OMIM:600144 ITPR2 skos:exactMatch ncbigene:3709 semapv:UnspecifiedMatching -OMIM:600147 MEOX1 skos:exactMatch hgnc:MEOX1 semapv:UnspecifiedMatching +OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:7013 semapv:UnspecifiedMatching +OMIM:600147 MEOX1 skos:exactMatch hgnc.symbol:MEOX1 semapv:UnspecifiedMatching OMIM:600147 MEOX1 skos:exactMatch ncbigene:4222 semapv:UnspecifiedMatching -OMIM:600148 GK2 skos:exactMatch hgnc:GK2 semapv:UnspecifiedMatching +OMIM:600148 GK2 skos:exactMatch hgnc.symbol:4291 semapv:UnspecifiedMatching +OMIM:600148 GK2 skos:exactMatch hgnc.symbol:GK2 semapv:UnspecifiedMatching OMIM:600148 GK2 skos:exactMatch ncbigene:2712 semapv:UnspecifiedMatching -OMIM:600149 glycerol kinase 3 pseudogene skos:exactMatch hgnc:GK3 semapv:UnspecifiedMatching +OMIM:600149 glycerol kinase 3 pseudogene skos:exactMatch hgnc.symbol:GK3 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1416602 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C1836173 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4539985 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C4540548 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch UMLS:C5231479 semapv:UnspecifiedMatching -OMIM:600150 KCNMA1 skos:exactMatch hgnc:KCNMA1 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:6284 semapv:UnspecifiedMatching +OMIM:600150 KCNMA1 skos:exactMatch hgnc.symbol:KCNMA1 semapv:UnspecifiedMatching OMIM:600150 KCNMA1 skos:exactMatch ncbigene:3778 semapv:UnspecifiedMatching +OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching -OMIM:600151 bardet-biedl syndrome 3 skos:exactMatch orphanet.ordo:110 semapv:UnspecifiedMatching -OMIM:600152 SEC13 skos:exactMatch hgnc:SEC13 semapv:UnspecifiedMatching +OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:10697 semapv:UnspecifiedMatching +OMIM:600152 SEC13 skos:exactMatch hgnc.symbol:SEC13 semapv:UnspecifiedMatching OMIM:600152 SEC13 skos:exactMatch ncbigene:6396 semapv:UnspecifiedMatching -OMIM:600153 PIGF skos:exactMatch hgnc:PIGF semapv:UnspecifiedMatching +OMIM:600153 PIGF skos:exactMatch hgnc.symbol:8962 semapv:UnspecifiedMatching +OMIM:600153 PIGF skos:exactMatch hgnc.symbol:PIGF semapv:UnspecifiedMatching OMIM:600153 PIGF skos:exactMatch ncbigene:5281 semapv:UnspecifiedMatching -OMIM:600154 PIGH skos:exactMatch hgnc:PIGH semapv:UnspecifiedMatching +OMIM:600154 PIGH skos:exactMatch hgnc.symbol:8964 semapv:UnspecifiedMatching +OMIM:600154 PIGH skos:exactMatch hgnc.symbol:PIGH semapv:UnspecifiedMatching OMIM:600154 PIGH skos:exactMatch ncbigene:5283 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch UMLS:C1412434 semapv:UnspecifiedMatching -OMIM:600157 AP1B1 skos:exactMatch hgnc:AP1B1 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:554 semapv:UnspecifiedMatching +OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:AP1B1 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch ncbigene:162 semapv:UnspecifiedMatching -OMIM:600160 CDKN2A skos:exactMatch hgnc:CDKN2A semapv:UnspecifiedMatching +OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:1787 semapv:UnspecifiedMatching +OMIM:600160 CDKN2A skos:exactMatch hgnc.symbol:CDKN2A semapv:UnspecifiedMatching OMIM:600160 CDKN2A skos:exactMatch ncbigene:1029 semapv:UnspecifiedMatching -OMIM:600161 PWAR1 skos:exactMatch hgnc:PWAR1 semapv:UnspecifiedMatching +OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:30089 semapv:UnspecifiedMatching +OMIM:600161 PWAR1 skos:exactMatch hgnc.symbol:PWAR1 semapv:UnspecifiedMatching OMIM:600161 PWAR1 skos:exactMatch ncbigene:145624 semapv:UnspecifiedMatching -OMIM:600162 PWAR5 skos:exactMatch hgnc:PWAR5 semapv:UnspecifiedMatching +OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:30090 semapv:UnspecifiedMatching +OMIM:600162 PWAR5 skos:exactMatch hgnc.symbol:PWAR5 semapv:UnspecifiedMatching OMIM:600162 PWAR5 skos:exactMatch ncbigene:8123 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C0038644 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C0428908 semapv:UnspecifiedMatching @@ -9725,36 +12997,51 @@ OMIM:600163 SCN5A skos:exactMatch UMLS:C3276240 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C3276241 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C4016652 semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch UMLS:C4551804 semapv:UnspecifiedMatching -OMIM:600163 SCN5A skos:exactMatch hgnc:SCN5A semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:10593 semapv:UnspecifiedMatching +OMIM:600163 SCN5A skos:exactMatch hgnc.symbol:SCN5A semapv:UnspecifiedMatching OMIM:600163 SCN5A skos:exactMatch ncbigene:6331 semapv:UnspecifiedMatching -OMIM:600164 GEM skos:exactMatch hgnc:GEM semapv:UnspecifiedMatching +OMIM:600164 GEM skos:exactMatch hgnc.symbol:4234 semapv:UnspecifiedMatching +OMIM:600164 GEM skos:exactMatch hgnc.symbol:GEM semapv:UnspecifiedMatching OMIM:600164 GEM skos:exactMatch ncbigene:2669 semapv:UnspecifiedMatching -OMIM:600167 HRH1 skos:exactMatch hgnc:HRH1 semapv:UnspecifiedMatching +OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:5182 semapv:UnspecifiedMatching +OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:HRH1 semapv:UnspecifiedMatching OMIM:600167 HRH1 skos:exactMatch ncbigene:3269 semapv:UnspecifiedMatching -OMIM:600168 MST1R skos:exactMatch hgnc:MST1R semapv:UnspecifiedMatching +OMIM:600168 MST1R skos:exactMatch hgnc.symbol:7381 semapv:UnspecifiedMatching +OMIM:600168 MST1R skos:exactMatch hgnc.symbol:MST1R semapv:UnspecifiedMatching OMIM:600168 MST1R skos:exactMatch ncbigene:4486 semapv:UnspecifiedMatching -OMIM:600169 MICA skos:exactMatch hgnc:MICA semapv:UnspecifiedMatching +OMIM:600169 MICA skos:exactMatch hgnc.symbol:7090 semapv:UnspecifiedMatching +OMIM:600169 MICA skos:exactMatch hgnc.symbol:MICA semapv:UnspecifiedMatching OMIM:600169 MICA skos:exactMatch ncbigene:100507436 semapv:UnspecifiedMatching -OMIM:600170 AQP3 skos:exactMatch hgnc:AQP3 semapv:UnspecifiedMatching +OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:636 semapv:UnspecifiedMatching +OMIM:600170 AQP3 skos:exactMatch hgnc.symbol:AQP3 semapv:UnspecifiedMatching OMIM:600170 AQP3 skos:exactMatch ncbigene:360 semapv:UnspecifiedMatching -OMIM:600172 MTF1 skos:exactMatch hgnc:MTF1 semapv:UnspecifiedMatching +OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:7428 semapv:UnspecifiedMatching +OMIM:600172 MTF1 skos:exactMatch hgnc.symbol:MTF1 semapv:UnspecifiedMatching OMIM:600172 MTF1 skos:exactMatch ncbigene:4520 semapv:UnspecifiedMatching -OMIM:600173 JAK3 skos:exactMatch hgnc:JAK3 semapv:UnspecifiedMatching +OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:6193 semapv:UnspecifiedMatching +OMIM:600173 JAK3 skos:exactMatch hgnc.symbol:JAK3 semapv:UnspecifiedMatching OMIM:600173 JAK3 skos:exactMatch ncbigene:3718 semapv:UnspecifiedMatching -OMIM:600174 PITPNA skos:exactMatch hgnc:PITPNA semapv:UnspecifiedMatching +OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:9001 semapv:UnspecifiedMatching +OMIM:600174 PITPNA skos:exactMatch hgnc.symbol:PITPNA semapv:UnspecifiedMatching OMIM:600174 PITPNA skos:exactMatch ncbigene:5306 semapv:UnspecifiedMatching -OMIM:600178 MAP1A skos:exactMatch hgnc:MAP1A semapv:UnspecifiedMatching +OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:6835 semapv:UnspecifiedMatching +OMIM:600178 MAP1A skos:exactMatch hgnc.symbol:MAP1A semapv:UnspecifiedMatching OMIM:600178 MAP1A skos:exactMatch ncbigene:4130 semapv:UnspecifiedMatching -OMIM:600179 GUCY2D skos:exactMatch hgnc:GUCY2D semapv:UnspecifiedMatching +OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:4689 semapv:UnspecifiedMatching +OMIM:600179 GUCY2D skos:exactMatch hgnc.symbol:GUCY2D semapv:UnspecifiedMatching OMIM:600179 GUCY2D skos:exactMatch ncbigene:3000 semapv:UnspecifiedMatching OMIM:600181 LCN2 skos:exactMatch UMLS:C1416806 semapv:UnspecifiedMatching -OMIM:600181 LCN2 skos:exactMatch hgnc:LCN2 semapv:UnspecifiedMatching +OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:6526 semapv:UnspecifiedMatching +OMIM:600181 LCN2 skos:exactMatch hgnc.symbol:LCN2 semapv:UnspecifiedMatching OMIM:600181 LCN2 skos:exactMatch ncbigene:3934 semapv:UnspecifiedMatching -OMIM:600182 SLC7A5 skos:exactMatch hgnc:SLC7A5 semapv:UnspecifiedMatching +OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:11063 semapv:UnspecifiedMatching +OMIM:600182 SLC7A5 skos:exactMatch hgnc.symbol:SLC7A5 semapv:UnspecifiedMatching OMIM:600182 SLC7A5 skos:exactMatch ncbigene:8140 semapv:UnspecifiedMatching -OMIM:600183 DUSP3 skos:exactMatch hgnc:DUSP3 semapv:UnspecifiedMatching +OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:3069 semapv:UnspecifiedMatching +OMIM:600183 DUSP3 skos:exactMatch hgnc.symbol:DUSP3 semapv:UnspecifiedMatching OMIM:600183 DUSP3 skos:exactMatch ncbigene:1845 semapv:UnspecifiedMatching -OMIM:600184 CRAT skos:exactMatch hgnc:CRAT semapv:UnspecifiedMatching +OMIM:600184 CRAT skos:exactMatch hgnc.symbol:2342 semapv:UnspecifiedMatching +OMIM:600184 CRAT skos:exactMatch hgnc.symbol:CRAT semapv:UnspecifiedMatching OMIM:600184 CRAT skos:exactMatch ncbigene:1384 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C0025149 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C0027708 semapv:UnspecifiedMatching @@ -9765,78 +13052,105 @@ OMIM:600185 BRCA2 skos:exactMatch UMLS:C2675520 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C2751641 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C3150546 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:600185 BRCA2 skos:exactMatch hgnc:BRCA2 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:1101 semapv:UnspecifiedMatching +OMIM:600185 BRCA2 skos:exactMatch hgnc.symbol:BRCA2 semapv:UnspecifiedMatching OMIM:600185 BRCA2 skos:exactMatch ncbigene:675 semapv:UnspecifiedMatching -OMIM:600187 EIF5A skos:exactMatch hgnc:EIF5A semapv:UnspecifiedMatching +OMIM:600187 EIF5A skos:exactMatch hgnc.symbol:3300 semapv:UnspecifiedMatching +OMIM:600187 EIF5A skos:exactMatch hgnc.symbol:EIF5A semapv:UnspecifiedMatching OMIM:600187 EIF5A skos:exactMatch ncbigene:1984 semapv:UnspecifiedMatching OMIM:600188 TLE5 skos:exactMatch UMLS:C1412268 semapv:UnspecifiedMatching -OMIM:600188 TLE5 skos:exactMatch hgnc:TLE5 semapv:UnspecifiedMatching +OMIM:600188 TLE5 skos:exactMatch hgnc.symbol:307 semapv:UnspecifiedMatching +OMIM:600188 TLE5 skos:exactMatch hgnc.symbol:TLE5 semapv:UnspecifiedMatching OMIM:600188 TLE5 skos:exactMatch ncbigene:166 semapv:UnspecifiedMatching OMIM:600189 TLE1 skos:exactMatch UMLS:C1420752 semapv:UnspecifiedMatching OMIM:600189 TLE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600189 TLE1 skos:exactMatch hgnc:TLE1 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:11837 semapv:UnspecifiedMatching +OMIM:600189 TLE1 skos:exactMatch hgnc.symbol:TLE1 semapv:UnspecifiedMatching OMIM:600189 TLE1 skos:exactMatch ncbigene:7088 semapv:UnspecifiedMatching OMIM:600190 TLE3 skos:exactMatch UMLS:C1420754 semapv:UnspecifiedMatching -OMIM:600190 TLE3 skos:exactMatch hgnc:TLE3 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:11839 semapv:UnspecifiedMatching +OMIM:600190 TLE3 skos:exactMatch hgnc.symbol:TLE3 semapv:UnspecifiedMatching OMIM:600190 TLE3 skos:exactMatch ncbigene:7090 semapv:UnspecifiedMatching -OMIM:600192 SS18 skos:exactMatch hgnc:SS18 semapv:UnspecifiedMatching +OMIM:600192 SS18 skos:exactMatch hgnc.symbol:11340 semapv:UnspecifiedMatching +OMIM:600192 SS18 skos:exactMatch hgnc.symbol:SS18 semapv:UnspecifiedMatching OMIM:600192 SS18 skos:exactMatch ncbigene:6760 semapv:UnspecifiedMatching -OMIM:600194 KRT2 skos:exactMatch hgnc:KRT2 semapv:UnspecifiedMatching +OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:6439 semapv:UnspecifiedMatching +OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:KRT2 semapv:UnspecifiedMatching OMIM:600194 KRT2 skos:exactMatch ncbigene:3849 semapv:UnspecifiedMatching +OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch Orphanet:2451 semapv:UnspecifiedMatching OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch UMLS:C1838437 semapv:UnspecifiedMatching -OMIM:600195 venous malformations, multiple cutaneous and mucosal skos:exactMatch orphanet.ordo:2451 semapv:UnspecifiedMatching OMIM:600197 MAFK skos:exactMatch UMLS:C1416968 semapv:UnspecifiedMatching -OMIM:600197 MAFK skos:exactMatch hgnc:MAFK semapv:UnspecifiedMatching +OMIM:600197 MAFK skos:exactMatch hgnc.symbol:6782 semapv:UnspecifiedMatching +OMIM:600197 MAFK skos:exactMatch hgnc.symbol:MAFK semapv:UnspecifiedMatching OMIM:600197 MAFK skos:exactMatch ncbigene:7975 semapv:UnspecifiedMatching -OMIM:600201 ASIP skos:exactMatch hgnc:ASIP semapv:UnspecifiedMatching +OMIM:600201 ASIP skos:exactMatch hgnc.symbol:745 semapv:UnspecifiedMatching +OMIM:600201 ASIP skos:exactMatch hgnc.symbol:ASIP semapv:UnspecifiedMatching OMIM:600201 ASIP skos:exactMatch ncbigene:434 semapv:UnspecifiedMatching OMIM:600202 dyslexia, susceptibility to, 2 skos:exactMatch UMLS:C1838436 semapv:UnspecifiedMatching -OMIM:600206 EPS8 skos:exactMatch hgnc:EPS8 semapv:UnspecifiedMatching +OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:3420 semapv:UnspecifiedMatching +OMIM:600206 EPS8 skos:exactMatch hgnc.symbol:EPS8 semapv:UnspecifiedMatching OMIM:600206 EPS8 skos:exactMatch ncbigene:2059 semapv:UnspecifiedMatching -OMIM:600207 HPCAL1 skos:exactMatch hgnc:HPCAL1 semapv:UnspecifiedMatching +OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:5145 semapv:UnspecifiedMatching +OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:HPCAL1 semapv:UnspecifiedMatching OMIM:600207 HPCAL1 skos:exactMatch ncbigene:3241 semapv:UnspecifiedMatching -OMIM:600210 RUNX3 skos:exactMatch hgnc:RUNX3 semapv:UnspecifiedMatching +OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:10473 semapv:UnspecifiedMatching +OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:RUNX3 semapv:UnspecifiedMatching OMIM:600210 RUNX3 skos:exactMatch ncbigene:864 semapv:UnspecifiedMatching -OMIM:600211 RUNX2 skos:exactMatch hgnc:RUNX2 semapv:UnspecifiedMatching +OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:10472 semapv:UnspecifiedMatching +OMIM:600211 RUNX2 skos:exactMatch hgnc.symbol:RUNX2 semapv:UnspecifiedMatching OMIM:600211 RUNX2 skos:exactMatch ncbigene:860 semapv:UnspecifiedMatching -OMIM:600212 FASN skos:exactMatch hgnc:FASN semapv:UnspecifiedMatching +OMIM:600212 FASN skos:exactMatch hgnc.symbol:3594 semapv:UnspecifiedMatching +OMIM:600212 FASN skos:exactMatch hgnc.symbol:FASN semapv:UnspecifiedMatching OMIM:600212 FASN skos:exactMatch ncbigene:2194 semapv:UnspecifiedMatching -OMIM:600214 AGER skos:exactMatch hgnc:AGER semapv:UnspecifiedMatching +OMIM:600214 AGER skos:exactMatch hgnc.symbol:320 semapv:UnspecifiedMatching +OMIM:600214 AGER skos:exactMatch hgnc.symbol:AGER semapv:UnspecifiedMatching OMIM:600214 AGER skos:exactMatch ncbigene:177 semapv:UnspecifiedMatching -OMIM:600215 MFAP1 skos:exactMatch hgnc:MFAP1 semapv:UnspecifiedMatching +OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:7032 semapv:UnspecifiedMatching +OMIM:600215 MFAP1 skos:exactMatch hgnc.symbol:MFAP1 semapv:UnspecifiedMatching OMIM:600215 MFAP1 skos:exactMatch ncbigene:4236 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch UMLS:C1335226 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch UMLS:C3280914 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching -OMIM:600220 PLCG2 skos:exactMatch hgnc:PLCG2 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch hgnc.symbol:9066 semapv:UnspecifiedMatching +OMIM:600220 PLCG2 skos:exactMatch hgnc.symbol:PLCG2 semapv:UnspecifiedMatching OMIM:600220 PLCG2 skos:exactMatch ncbigene:5336 semapv:UnspecifiedMatching -OMIM:600221 TEK skos:exactMatch hgnc:TEK semapv:UnspecifiedMatching +OMIM:600221 TEK skos:exactMatch hgnc.symbol:11724 semapv:UnspecifiedMatching +OMIM:600221 TEK skos:exactMatch hgnc.symbol:TEK semapv:UnspecifiedMatching OMIM:600221 TEK skos:exactMatch ncbigene:7010 semapv:UnspecifiedMatching -OMIM:600222 TIE1 skos:exactMatch hgnc:TIE1 semapv:UnspecifiedMatching +OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:11809 semapv:UnspecifiedMatching +OMIM:600222 TIE1 skos:exactMatch hgnc.symbol:TIE1 semapv:UnspecifiedMatching OMIM:600222 TIE1 skos:exactMatch ncbigene:7075 semapv:UnspecifiedMatching -OMIM:600225 GCH1 skos:exactMatch hgnc:GCH1 semapv:UnspecifiedMatching +OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:4193 semapv:UnspecifiedMatching +OMIM:600225 GCH1 skos:exactMatch hgnc.symbol:GCH1 semapv:UnspecifiedMatching OMIM:600225 GCH1 skos:exactMatch ncbigene:2643 semapv:UnspecifiedMatching -OMIM:600227 CCNF skos:exactMatch hgnc:CCNF semapv:UnspecifiedMatching +OMIM:600227 CCNF skos:exactMatch hgnc.symbol:1591 semapv:UnspecifiedMatching +OMIM:600227 CCNF skos:exactMatch hgnc.symbol:CCNF semapv:UnspecifiedMatching OMIM:600227 CCNF skos:exactMatch ncbigene:899 semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch UMLS:C1419868 semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch UMLS:C2751666 semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch UMLS:C4748292 semapv:UnspecifiedMatching -OMIM:600228 SCNN1A skos:exactMatch hgnc:SCNN1A semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:10599 semapv:UnspecifiedMatching +OMIM:600228 SCNN1A skos:exactMatch hgnc.symbol:SCNN1A semapv:UnspecifiedMatching OMIM:600228 SCNN1A skos:exactMatch ncbigene:6337 semapv:UnspecifiedMatching OMIM:600229 SLC1A4 skos:exactMatch UMLS:C1420122 semapv:UnspecifiedMatching OMIM:600229 SLC1A4 skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching -OMIM:600229 SLC1A4 skos:exactMatch hgnc:SLC1A4 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:10942 semapv:UnspecifiedMatching +OMIM:600229 SLC1A4 skos:exactMatch hgnc.symbol:SLC1A4 semapv:UnspecifiedMatching OMIM:600229 SLC1A4 skos:exactMatch ncbigene:6509 semapv:UnspecifiedMatching OMIM:600230 PLCB3 skos:exactMatch UMLS:C1335225 semapv:UnspecifiedMatching OMIM:600230 PLCB3 skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching -OMIM:600230 PLCB3 skos:exactMatch hgnc:PLCB3 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:9056 semapv:UnspecifiedMatching +OMIM:600230 PLCB3 skos:exactMatch hgnc.symbol:PLCB3 semapv:UnspecifiedMatching OMIM:600230 PLCB3 skos:exactMatch ncbigene:5331 semapv:UnspecifiedMatching -OMIM:600232 GABRB2 skos:exactMatch hgnc:GABRB2 semapv:UnspecifiedMatching +OMIM:600232 GABRB2 skos:exactMatch hgnc.symbol:4082 semapv:UnspecifiedMatching +OMIM:600232 GABRB2 skos:exactMatch hgnc.symbol:GABRB2 semapv:UnspecifiedMatching OMIM:600232 GABRB2 skos:exactMatch ncbigene:2561 semapv:UnspecifiedMatching -OMIM:600233 GABRG3 skos:exactMatch hgnc:GABRG3 semapv:UnspecifiedMatching +OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:4088 semapv:UnspecifiedMatching +OMIM:600233 GABRG3 skos:exactMatch hgnc.symbol:GABRG3 semapv:UnspecifiedMatching OMIM:600233 GABRG3 skos:exactMatch ncbigene:2567 semapv:UnspecifiedMatching -OMIM:600234 HMGCS2 skos:exactMatch hgnc:HMGCS2 semapv:UnspecifiedMatching +OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:5008 semapv:UnspecifiedMatching +OMIM:600234 HMGCS2 skos:exactMatch hgnc.symbol:HMGCS2 semapv:UnspecifiedMatching OMIM:600234 HMGCS2 skos:exactMatch ncbigene:3158 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C1419857 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching @@ -9844,167 +13158,229 @@ OMIM:600235 SCN1B skos:exactMatch UMLS:C2748541 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C2748542 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C3809311 semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching -OMIM:600235 SCN1B skos:exactMatch hgnc:SCN1B semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:10586 semapv:UnspecifiedMatching +OMIM:600235 SCN1B skos:exactMatch hgnc.symbol:SCN1B semapv:UnspecifiedMatching OMIM:600235 SCN1B skos:exactMatch ncbigene:6324 semapv:UnspecifiedMatching -OMIM:600236 CENPF skos:exactMatch hgnc:CENPF semapv:UnspecifiedMatching +OMIM:600236 CENPF skos:exactMatch hgnc.symbol:1857 semapv:UnspecifiedMatching +OMIM:600236 CENPF skos:exactMatch hgnc.symbol:CENPF semapv:UnspecifiedMatching OMIM:600236 CENPF skos:exactMatch ncbigene:1063 semapv:UnspecifiedMatching OMIM:600237 HIRA skos:exactMatch UMLS:C1415549 semapv:UnspecifiedMatching -OMIM:600237 HIRA skos:exactMatch hgnc:HIRA semapv:UnspecifiedMatching +OMIM:600237 HIRA skos:exactMatch hgnc.symbol:4916 semapv:UnspecifiedMatching +OMIM:600237 HIRA skos:exactMatch hgnc.symbol:HIRA semapv:UnspecifiedMatching OMIM:600237 HIRA skos:exactMatch ncbigene:7290 semapv:UnspecifiedMatching -OMIM:600238 TGM3 skos:exactMatch hgnc:TGM3 semapv:UnspecifiedMatching +OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:11779 semapv:UnspecifiedMatching +OMIM:600238 TGM3 skos:exactMatch hgnc.symbol:TGM3 semapv:UnspecifiedMatching OMIM:600238 TGM3 skos:exactMatch ncbigene:7053 semapv:UnspecifiedMatching -OMIM:600239 CMKLR2 skos:exactMatch hgnc:CMKLR2 semapv:UnspecifiedMatching +OMIM:600239 CMKLR2 skos:exactMatch hgnc.symbol:4463 semapv:UnspecifiedMatching +OMIM:600239 CMKLR2 skos:exactMatch hgnc.symbol:CMKLR2 semapv:UnspecifiedMatching OMIM:600239 CMKLR2 skos:exactMatch ncbigene:2825 semapv:UnspecifiedMatching -OMIM:600240 CCR10 skos:exactMatch hgnc:CCR10 semapv:UnspecifiedMatching +OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:4474 semapv:UnspecifiedMatching +OMIM:600240 CCR10 skos:exactMatch hgnc.symbol:CCR10 semapv:UnspecifiedMatching OMIM:600240 CCR10 skos:exactMatch ncbigene:2826 semapv:UnspecifiedMatching -OMIM:600241 GPR3 skos:exactMatch hgnc:GPR3 semapv:UnspecifiedMatching +OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:4484 semapv:UnspecifiedMatching +OMIM:600241 GPR3 skos:exactMatch hgnc.symbol:GPR3 semapv:UnspecifiedMatching OMIM:600241 GPR3 skos:exactMatch ncbigene:2827 semapv:UnspecifiedMatching -OMIM:600242 CCR7 skos:exactMatch hgnc:CCR7 semapv:UnspecifiedMatching +OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:1608 semapv:UnspecifiedMatching +OMIM:600242 CCR7 skos:exactMatch hgnc.symbol:CCR7 semapv:UnspecifiedMatching OMIM:600242 CCR7 skos:exactMatch ncbigene:1236 semapv:UnspecifiedMatching -OMIM:600243 DAD1 skos:exactMatch hgnc:DAD1 semapv:UnspecifiedMatching +OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:2664 semapv:UnspecifiedMatching +OMIM:600243 DAD1 skos:exactMatch hgnc.symbol:DAD1 semapv:UnspecifiedMatching OMIM:600243 DAD1 skos:exactMatch ncbigene:1603 semapv:UnspecifiedMatching -OMIM:600244 PDCD1 skos:exactMatch hgnc:PDCD1 semapv:UnspecifiedMatching +OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:8760 semapv:UnspecifiedMatching +OMIM:600244 PDCD1 skos:exactMatch hgnc.symbol:PDCD1 semapv:UnspecifiedMatching OMIM:600244 PDCD1 skos:exactMatch ncbigene:5133 semapv:UnspecifiedMatching -OMIM:600245 FMOD skos:exactMatch hgnc:FMOD semapv:UnspecifiedMatching +OMIM:600245 FMOD skos:exactMatch hgnc.symbol:3774 semapv:UnspecifiedMatching +OMIM:600245 FMOD skos:exactMatch hgnc.symbol:FMOD semapv:UnspecifiedMatching OMIM:600245 FMOD skos:exactMatch ncbigene:2331 semapv:UnspecifiedMatching -OMIM:600246 ELK4 skos:exactMatch hgnc:ELK4 semapv:UnspecifiedMatching +OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:3326 semapv:UnspecifiedMatching +OMIM:600246 ELK4 skos:exactMatch hgnc.symbol:ELK4 semapv:UnspecifiedMatching OMIM:600246 ELK4 skos:exactMatch ncbigene:2005 semapv:UnspecifiedMatching -OMIM:600247 ELK3 skos:exactMatch hgnc:ELK3 semapv:UnspecifiedMatching +OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:3325 semapv:UnspecifiedMatching +OMIM:600247 ELK3 skos:exactMatch hgnc.symbol:ELK3 semapv:UnspecifiedMatching OMIM:600247 ELK3 skos:exactMatch ncbigene:2004 semapv:UnspecifiedMatching -OMIM:600249 ALDH1L1 skos:exactMatch hgnc:ALDH1L1 semapv:UnspecifiedMatching +OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:3978 semapv:UnspecifiedMatching +OMIM:600249 ALDH1L1 skos:exactMatch hgnc.symbol:ALDH1L1 semapv:UnspecifiedMatching OMIM:600249 ALDH1L1 skos:exactMatch ncbigene:10840 semapv:UnspecifiedMatching -OMIM:600250 XCL1 skos:exactMatch hgnc:XCL1 semapv:UnspecifiedMatching +OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:10645 semapv:UnspecifiedMatching +OMIM:600250 XCL1 skos:exactMatch hgnc.symbol:XCL1 semapv:UnspecifiedMatching OMIM:600250 XCL1 skos:exactMatch ncbigene:6375 semapv:UnspecifiedMatching OMIM:600253 AHR skos:exactMatch UMLS:C0596123 semapv:UnspecifiedMatching OMIM:600253 AHR skos:exactMatch UMLS:C5193041 semapv:UnspecifiedMatching -OMIM:600253 AHR skos:exactMatch hgnc:AHR semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch hgnc.symbol:348 semapv:UnspecifiedMatching +OMIM:600253 AHR skos:exactMatch hgnc.symbol:AHR semapv:UnspecifiedMatching OMIM:600253 AHR skos:exactMatch ncbigene:196 semapv:UnspecifiedMatching -OMIM:600258 PMS1 skos:exactMatch hgnc:PMS1 semapv:UnspecifiedMatching +OMIM:600258 PMS1 skos:exactMatch hgnc.symbol:9121 semapv:UnspecifiedMatching +OMIM:600258 PMS1 skos:exactMatch hgnc.symbol:PMS1 semapv:UnspecifiedMatching OMIM:600258 PMS1 skos:exactMatch ncbigene:5378 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch UMLS:C0879391 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch UMLS:C1838333 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching -OMIM:600259 PMS2 skos:exactMatch hgnc:PMS2 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:9122 semapv:UnspecifiedMatching +OMIM:600259 PMS2 skos:exactMatch hgnc.symbol:PMS2 semapv:UnspecifiedMatching OMIM:600259 PMS2 skos:exactMatch ncbigene:5395 semapv:UnspecifiedMatching OMIM:600262 PTGS2 skos:exactMatch UMLS:C1367485 semapv:UnspecifiedMatching -OMIM:600262 PTGS2 skos:exactMatch hgnc:PTGS2 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:9605 semapv:UnspecifiedMatching +OMIM:600262 PTGS2 skos:exactMatch hgnc.symbol:PTGS2 semapv:UnspecifiedMatching OMIM:600262 PTGS2 skos:exactMatch ncbigene:5743 semapv:UnspecifiedMatching OMIM:600263 helicobacter pylori infection, susceptibility to skos:exactMatch UMLS:C1838332 semapv:UnspecifiedMatching -OMIM:600264 AVPR1B skos:exactMatch hgnc:AVPR1B semapv:UnspecifiedMatching +OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:896 semapv:UnspecifiedMatching +OMIM:600264 AVPR1B skos:exactMatch hgnc.symbol:AVPR1B semapv:UnspecifiedMatching OMIM:600264 AVPR1B skos:exactMatch ncbigene:553 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1420088 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch UMLS:C1864868 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch UMLS:C2936833 semapv:UnspecifiedMatching -OMIM:600266 SLC11A1 skos:exactMatch hgnc:SLC11A1 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:10907 semapv:UnspecifiedMatching +OMIM:600266 SLC11A1 skos:exactMatch hgnc.symbol:SLC11A1 semapv:UnspecifiedMatching OMIM:600266 SLC11A1 skos:exactMatch ncbigene:6556 semapv:UnspecifiedMatching -OMIM:600267 PTPN13 skos:exactMatch hgnc:PTPN13 semapv:UnspecifiedMatching +OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:9646 semapv:UnspecifiedMatching +OMIM:600267 PTPN13 skos:exactMatch hgnc.symbol:PTPN13 semapv:UnspecifiedMatching OMIM:600267 PTPN13 skos:exactMatch ncbigene:5783 semapv:UnspecifiedMatching +OMIM:600268 oculoectodermal syndrome skos:exactMatch Orphanet:3339 semapv:UnspecifiedMatching OMIM:600268 oculoectodermal syndrome skos:exactMatch UMLS:C1838329 semapv:UnspecifiedMatching -OMIM:600268 oculoectodermal syndrome skos:exactMatch orphanet.ordo:3339 semapv:UnspecifiedMatching -OMIM:600270 PCOLCE skos:exactMatch hgnc:PCOLCE semapv:UnspecifiedMatching +OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:8738 semapv:UnspecifiedMatching +OMIM:600270 PCOLCE skos:exactMatch hgnc.symbol:PCOLCE semapv:UnspecifiedMatching OMIM:600270 PCOLCE skos:exactMatch ncbigene:5118 semapv:UnspecifiedMatching -OMIM:600271 DSC3 skos:exactMatch hgnc:DSC3 semapv:UnspecifiedMatching +OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:3037 semapv:UnspecifiedMatching +OMIM:600271 DSC3 skos:exactMatch hgnc.symbol:DSC3 semapv:UnspecifiedMatching OMIM:600271 DSC3 skos:exactMatch ncbigene:1825 semapv:UnspecifiedMatching -OMIM:600272 COIL skos:exactMatch hgnc:COIL semapv:UnspecifiedMatching +OMIM:600272 COIL skos:exactMatch hgnc.symbol:2184 semapv:UnspecifiedMatching +OMIM:600272 COIL skos:exactMatch hgnc.symbol:COIL semapv:UnspecifiedMatching OMIM:600272 COIL skos:exactMatch ncbigene:8161 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100069 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:100070 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:275864 semapv:UnspecifiedMatching +OMIM:600274 frontotemporal dementia skos:exactMatch Orphanet:282 semapv:UnspecifiedMatching OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0338451 semapv:UnspecifiedMatching OMIM:600274 frontotemporal dementia skos:exactMatch UMLS:C0520716 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch orphanet.ordo:100069 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch orphanet.ordo:100070 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch orphanet.ordo:275864 semapv:UnspecifiedMatching -OMIM:600274 frontotemporal dementia skos:exactMatch orphanet.ordo:282 semapv:UnspecifiedMatching -OMIM:600275 NOTCH2 skos:exactMatch hgnc:NOTCH2 semapv:UnspecifiedMatching +OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:7882 semapv:UnspecifiedMatching +OMIM:600275 NOTCH2 skos:exactMatch hgnc.symbol:NOTCH2 semapv:UnspecifiedMatching OMIM:600275 NOTCH2 skos:exactMatch ncbigene:4853 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1417768 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C1851710 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C3809084 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch UMLS:C4551768 semapv:UnspecifiedMatching -OMIM:600276 NOTCH3 skos:exactMatch hgnc:NOTCH3 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:7883 semapv:UnspecifiedMatching +OMIM:600276 NOTCH3 skos:exactMatch hgnc.symbol:NOTCH3 semapv:UnspecifiedMatching OMIM:600276 NOTCH3 skos:exactMatch ncbigene:4854 semapv:UnspecifiedMatching -OMIM:600277 ID3 skos:exactMatch hgnc:ID3 semapv:UnspecifiedMatching +OMIM:600277 ID3 skos:exactMatch hgnc.symbol:5362 semapv:UnspecifiedMatching +OMIM:600277 ID3 skos:exactMatch hgnc.symbol:ID3 semapv:UnspecifiedMatching OMIM:600277 ID3 skos:exactMatch ncbigene:3399 semapv:UnspecifiedMatching -OMIM:600278 RAP1GAP skos:exactMatch hgnc:RAP1GAP semapv:UnspecifiedMatching +OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:9858 semapv:UnspecifiedMatching +OMIM:600278 RAP1GAP skos:exactMatch hgnc.symbol:RAP1GAP semapv:UnspecifiedMatching OMIM:600278 RAP1GAP skos:exactMatch ncbigene:5909 semapv:UnspecifiedMatching -OMIM:600279 PEX19 skos:exactMatch hgnc:PEX19 semapv:UnspecifiedMatching +OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:9713 semapv:UnspecifiedMatching +OMIM:600279 PEX19 skos:exactMatch hgnc.symbol:PEX19 semapv:UnspecifiedMatching OMIM:600279 PEX19 skos:exactMatch ncbigene:5824 semapv:UnspecifiedMatching -OMIM:600280 NUBP1 skos:exactMatch hgnc:NUBP1 semapv:UnspecifiedMatching +OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:8041 semapv:UnspecifiedMatching +OMIM:600280 NUBP1 skos:exactMatch hgnc.symbol:NUBP1 semapv:UnspecifiedMatching OMIM:600280 NUBP1 skos:exactMatch ncbigene:4682 semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch UMLS:C1415629 semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch UMLS:C1852093 semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch UMLS:C4014962 semapv:UnspecifiedMatching -OMIM:600281 HNF4A skos:exactMatch hgnc:HNF4A semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:5024 semapv:UnspecifiedMatching +OMIM:600281 HNF4A skos:exactMatch hgnc.symbol:HNF4A semapv:UnspecifiedMatching OMIM:600281 HNF4A skos:exactMatch ncbigene:3172 semapv:UnspecifiedMatching -OMIM:600282 GRIK4 skos:exactMatch hgnc:GRIK4 semapv:UnspecifiedMatching +OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:4582 semapv:UnspecifiedMatching +OMIM:600282 GRIK4 skos:exactMatch hgnc.symbol:GRIK4 semapv:UnspecifiedMatching OMIM:600282 GRIK4 skos:exactMatch ncbigene:2900 semapv:UnspecifiedMatching -OMIM:600283 GRIK5 skos:exactMatch hgnc:GRIK5 semapv:UnspecifiedMatching +OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:4583 semapv:UnspecifiedMatching +OMIM:600283 GRIK5 skos:exactMatch hgnc.symbol:GRIK5 semapv:UnspecifiedMatching OMIM:600283 GRIK5 skos:exactMatch ncbigene:2901 semapv:UnspecifiedMatching -OMIM:600284 ELL skos:exactMatch hgnc:ELL semapv:UnspecifiedMatching +OMIM:600284 ELL skos:exactMatch hgnc.symbol:23114 semapv:UnspecifiedMatching +OMIM:600284 ELL skos:exactMatch hgnc.symbol:ELL semapv:UnspecifiedMatching OMIM:600284 ELL skos:exactMatch ncbigene:8178 semapv:UnspecifiedMatching -OMIM:600285 ETF1 skos:exactMatch hgnc:ETF1 semapv:UnspecifiedMatching +OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:3477 semapv:UnspecifiedMatching +OMIM:600285 ETF1 skos:exactMatch hgnc.symbol:ETF1 semapv:UnspecifiedMatching OMIM:600285 ETF1 skos:exactMatch ncbigene:2107 semapv:UnspecifiedMatching -OMIM:600286 PI4KA skos:exactMatch hgnc:PI4KA semapv:UnspecifiedMatching +OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:8983 semapv:UnspecifiedMatching +OMIM:600286 PI4KA skos:exactMatch hgnc.symbol:PI4KA semapv:UnspecifiedMatching OMIM:600286 PI4KA skos:exactMatch ncbigene:5297 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch UMLS:C1414988 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching -OMIM:600287 GARS1 skos:exactMatch hgnc:GARS1 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:4162 semapv:UnspecifiedMatching +OMIM:600287 GARS1 skos:exactMatch hgnc.symbol:GARS1 semapv:UnspecifiedMatching OMIM:600287 GARS1 skos:exactMatch ncbigene:2617 semapv:UnspecifiedMatching -OMIM:600288 FOXA2 skos:exactMatch hgnc:FOXA2 semapv:UnspecifiedMatching +OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:5022 semapv:UnspecifiedMatching +OMIM:600288 FOXA2 skos:exactMatch hgnc.symbol:FOXA2 semapv:UnspecifiedMatching OMIM:600288 FOXA2 skos:exactMatch ncbigene:3170 semapv:UnspecifiedMatching -OMIM:600289 MAPK14 skos:exactMatch hgnc:MAPK14 semapv:UnspecifiedMatching +OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:6876 semapv:UnspecifiedMatching +OMIM:600289 MAPK14 skos:exactMatch hgnc.symbol:MAPK14 semapv:UnspecifiedMatching OMIM:600289 MAPK14 skos:exactMatch ncbigene:1432 semapv:UnspecifiedMatching -OMIM:600291 ADCY3 skos:exactMatch hgnc:ADCY3 semapv:UnspecifiedMatching +OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:234 semapv:UnspecifiedMatching +OMIM:600291 ADCY3 skos:exactMatch hgnc.symbol:ADCY3 semapv:UnspecifiedMatching OMIM:600291 ADCY3 skos:exactMatch ncbigene:109 semapv:UnspecifiedMatching -OMIM:600292 ADCY4 skos:exactMatch hgnc:ADCY4 semapv:UnspecifiedMatching +OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:235 semapv:UnspecifiedMatching +OMIM:600292 ADCY4 skos:exactMatch hgnc.symbol:ADCY4 semapv:UnspecifiedMatching OMIM:600292 ADCY4 skos:exactMatch ncbigene:196883 semapv:UnspecifiedMatching -OMIM:600293 ADCY5 skos:exactMatch hgnc:ADCY5 semapv:UnspecifiedMatching +OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:236 semapv:UnspecifiedMatching +OMIM:600293 ADCY5 skos:exactMatch hgnc.symbol:ADCY5 semapv:UnspecifiedMatching OMIM:600293 ADCY5 skos:exactMatch ncbigene:111 semapv:UnspecifiedMatching -OMIM:600294 ADCY6 skos:exactMatch hgnc:ADCY6 semapv:UnspecifiedMatching +OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:237 semapv:UnspecifiedMatching +OMIM:600294 ADCY6 skos:exactMatch hgnc.symbol:ADCY6 semapv:UnspecifiedMatching OMIM:600294 ADCY6 skos:exactMatch ncbigene:112 semapv:UnspecifiedMatching -OMIM:600295 NPPB skos:exactMatch hgnc:NPPB semapv:UnspecifiedMatching +OMIM:600295 NPPB skos:exactMatch hgnc.symbol:7940 semapv:UnspecifiedMatching +OMIM:600295 NPPB skos:exactMatch hgnc.symbol:NPPB semapv:UnspecifiedMatching OMIM:600295 NPPB skos:exactMatch ncbigene:4879 semapv:UnspecifiedMatching -OMIM:600296 NPPC skos:exactMatch hgnc:NPPC semapv:UnspecifiedMatching +OMIM:600296 NPPC skos:exactMatch hgnc.symbol:7941 semapv:UnspecifiedMatching +OMIM:600296 NPPC skos:exactMatch hgnc.symbol:NPPC semapv:UnspecifiedMatching OMIM:600296 NPPC skos:exactMatch ncbigene:4880 semapv:UnspecifiedMatching -OMIM:600297 CDX2 skos:exactMatch hgnc:CDX2 semapv:UnspecifiedMatching +OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:1806 semapv:UnspecifiedMatching +OMIM:600297 CDX2 skos:exactMatch hgnc.symbol:CDX2 semapv:UnspecifiedMatching OMIM:600297 CDX2 skos:exactMatch ncbigene:1045 semapv:UnspecifiedMatching OMIM:600298 LMX1A skos:exactMatch UMLS:C1416889 semapv:UnspecifiedMatching OMIM:600298 LMX1A skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching OMIM:600298 LMX1A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600298 LMX1A skos:exactMatch hgnc:LMX1A semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:6653 semapv:UnspecifiedMatching +OMIM:600298 LMX1A skos:exactMatch hgnc.symbol:LMX1A semapv:UnspecifiedMatching OMIM:600298 LMX1A skos:exactMatch ncbigene:4009 semapv:UnspecifiedMatching -OMIM:600299 PCM1 skos:exactMatch hgnc:PCM1 semapv:UnspecifiedMatching +OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:8727 semapv:UnspecifiedMatching +OMIM:600299 PCM1 skos:exactMatch hgnc.symbol:PCM1 semapv:UnspecifiedMatching OMIM:600299 PCM1 skos:exactMatch ncbigene:5108 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch UMLS:C1420120 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching -OMIM:600300 SLC1A2 skos:exactMatch hgnc:SLC1A2 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:10940 semapv:UnspecifiedMatching +OMIM:600300 SLC1A2 skos:exactMatch hgnc.symbol:SLC1A2 semapv:UnspecifiedMatching OMIM:600300 SLC1A2 skos:exactMatch ncbigene:6506 semapv:UnspecifiedMatching OMIM:600301 ACADSB skos:exactMatch UMLS:C1412109 semapv:UnspecifiedMatching OMIM:600301 ACADSB skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching -OMIM:600301 ACADSB skos:exactMatch hgnc:ACADSB semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:91 semapv:UnspecifiedMatching +OMIM:600301 ACADSB skos:exactMatch hgnc.symbol:ACADSB semapv:UnspecifiedMatching OMIM:600301 ACADSB skos:exactMatch ncbigene:36 semapv:UnspecifiedMatching -OMIM:600303 RAPGEF1 skos:exactMatch hgnc:RAPGEF1 semapv:UnspecifiedMatching +OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:4568 semapv:UnspecifiedMatching +OMIM:600303 RAPGEF1 skos:exactMatch hgnc.symbol:RAPGEF1 semapv:UnspecifiedMatching OMIM:600303 RAPGEF1 skos:exactMatch ncbigene:2889 semapv:UnspecifiedMatching -OMIM:600305 ECI1 skos:exactMatch hgnc:ECI1 semapv:UnspecifiedMatching +OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:2703 semapv:UnspecifiedMatching +OMIM:600305 ECI1 skos:exactMatch hgnc.symbol:ECI1 semapv:UnspecifiedMatching OMIM:600305 ECI1 skos:exactMatch ncbigene:1632 semapv:UnspecifiedMatching -OMIM:600306 PSMB5 skos:exactMatch hgnc:PSMB5 semapv:UnspecifiedMatching +OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:9542 semapv:UnspecifiedMatching +OMIM:600306 PSMB5 skos:exactMatch hgnc.symbol:PSMB5 semapv:UnspecifiedMatching OMIM:600306 PSMB5 skos:exactMatch ncbigene:5693 semapv:UnspecifiedMatching -OMIM:600307 PSMB6 skos:exactMatch hgnc:PSMB6 semapv:UnspecifiedMatching +OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:9543 semapv:UnspecifiedMatching +OMIM:600307 PSMB6 skos:exactMatch hgnc.symbol:PSMB6 semapv:UnspecifiedMatching OMIM:600307 PSMB6 skos:exactMatch ncbigene:5694 semapv:UnspecifiedMatching -OMIM:600308 AQP4 skos:exactMatch hgnc:AQP4 semapv:UnspecifiedMatching +OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:637 semapv:UnspecifiedMatching +OMIM:600308 AQP4 skos:exactMatch hgnc.symbol:AQP4 semapv:UnspecifiedMatching OMIM:600308 AQP4 skos:exactMatch ncbigene:361 semapv:UnspecifiedMatching -OMIM:600310 COMP skos:exactMatch hgnc:COMP semapv:UnspecifiedMatching +OMIM:600310 COMP skos:exactMatch hgnc.symbol:2227 semapv:UnspecifiedMatching +OMIM:600310 COMP skos:exactMatch hgnc.symbol:COMP semapv:UnspecifiedMatching OMIM:600310 COMP skos:exactMatch ncbigene:1311 semapv:UnspecifiedMatching -OMIM:600311 GZMM skos:exactMatch hgnc:GZMM semapv:UnspecifiedMatching +OMIM:600311 GZMM skos:exactMatch hgnc.symbol:4712 semapv:UnspecifiedMatching +OMIM:600311 GZMM skos:exactMatch hgnc.symbol:GZMM semapv:UnspecifiedMatching OMIM:600311 GZMM skos:exactMatch ncbigene:3004 semapv:UnspecifiedMatching -OMIM:600312 NUDT1 skos:exactMatch hgnc:NUDT1 semapv:UnspecifiedMatching +OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:8048 semapv:UnspecifiedMatching +OMIM:600312 NUDT1 skos:exactMatch hgnc.symbol:NUDT1 semapv:UnspecifiedMatching OMIM:600312 NUDT1 skos:exactMatch ncbigene:4521 semapv:UnspecifiedMatching -OMIM:600314 SHB skos:exactMatch hgnc:SHB semapv:UnspecifiedMatching +OMIM:600314 SHB skos:exactMatch hgnc.symbol:10838 semapv:UnspecifiedMatching +OMIM:600314 SHB skos:exactMatch hgnc.symbol:SHB semapv:UnspecifiedMatching OMIM:600314 SHB skos:exactMatch ncbigene:6461 semapv:UnspecifiedMatching -OMIM:600315 TNFRSF4 skos:exactMatch hgnc:TNFRSF4 semapv:UnspecifiedMatching +OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:11918 semapv:UnspecifiedMatching +OMIM:600315 TNFRSF4 skos:exactMatch hgnc.symbol:TNFRSF4 semapv:UnspecifiedMatching OMIM:600315 TNFRSF4 skos:exactMatch ncbigene:7293 semapv:UnspecifiedMatching -OMIM:600317 TPM4 skos:exactMatch hgnc:TPM4 semapv:UnspecifiedMatching +OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:12013 semapv:UnspecifiedMatching +OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:TPM4 semapv:UnspecifiedMatching OMIM:600317 TPM4 skos:exactMatch ncbigene:7171 semapv:UnspecifiedMatching OMIM:600318 iia 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching OMIM:600319 iia 1 diabetes mellitus 4 skos:exactMatch UMLS:C1838261 semapv:UnspecifiedMatching @@ -10012,308 +13388,438 @@ OMIM:600320 iia 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:Unsp OMIM:600321 iia 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch UMLS:C1420270 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch UMLS:C4225364 semapv:UnspecifiedMatching -OMIM:600322 SNAP25 skos:exactMatch hgnc:SNAP25 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:11132 semapv:UnspecifiedMatching +OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:SNAP25 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch ncbigene:6616 semapv:UnspecifiedMatching -OMIM:600323 RGS1 skos:exactMatch hgnc:RGS1 semapv:UnspecifiedMatching +OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:9991 semapv:UnspecifiedMatching +OMIM:600323 RGS1 skos:exactMatch hgnc.symbol:RGS1 semapv:UnspecifiedMatching OMIM:600323 RGS1 skos:exactMatch ncbigene:5996 semapv:UnspecifiedMatching -OMIM:600324 CXCL5 skos:exactMatch hgnc:CXCL5 semapv:UnspecifiedMatching +OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:10642 semapv:UnspecifiedMatching +OMIM:600324 CXCL5 skos:exactMatch hgnc.symbol:CXCL5 semapv:UnspecifiedMatching OMIM:600324 CXCL5 skos:exactMatch ncbigene:6374 semapv:UnspecifiedMatching OMIM:600326 DDX6 skos:exactMatch UMLS:C0812257 semapv:UnspecifiedMatching OMIM:600326 DDX6 skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching -OMIM:600326 DDX6 skos:exactMatch hgnc:DDX6 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:2747 semapv:UnspecifiedMatching +OMIM:600326 DDX6 skos:exactMatch hgnc.symbol:DDX6 semapv:UnspecifiedMatching OMIM:600326 DDX6 skos:exactMatch ncbigene:1656 semapv:UnspecifiedMatching -OMIM:600327 SYT3 skos:exactMatch hgnc:SYT3 semapv:UnspecifiedMatching +OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:11511 semapv:UnspecifiedMatching +OMIM:600327 SYT3 skos:exactMatch hgnc.symbol:SYT3 semapv:UnspecifiedMatching OMIM:600327 SYT3 skos:exactMatch ncbigene:84258 semapv:UnspecifiedMatching OMIM:600328 MLLT6 skos:exactMatch UMLS:C1334517 semapv:UnspecifiedMatching -OMIM:600328 MLLT6 skos:exactMatch hgnc:MLLT6 semapv:UnspecifiedMatching +OMIM:600328 MLLT6 skos:exactMatch hgnc.symbol:7138 semapv:UnspecifiedMatching +OMIM:600328 MLLT6 skos:exactMatch hgnc.symbol:MLLT6 semapv:UnspecifiedMatching OMIM:600328 MLLT6 skos:exactMatch ncbigene:4302 semapv:UnspecifiedMatching -OMIM:600336 SLC18A3 skos:exactMatch hgnc:SLC18A3 semapv:UnspecifiedMatching +OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:10936 semapv:UnspecifiedMatching +OMIM:600336 SLC18A3 skos:exactMatch hgnc.symbol:SLC18A3 semapv:UnspecifiedMatching OMIM:600336 SLC18A3 skos:exactMatch ncbigene:6572 semapv:UnspecifiedMatching -OMIM:600337 BDKRB1 skos:exactMatch hgnc:BDKRB1 semapv:UnspecifiedMatching +OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:1029 semapv:UnspecifiedMatching +OMIM:600337 BDKRB1 skos:exactMatch hgnc.symbol:BDKRB1 semapv:UnspecifiedMatching OMIM:600337 BDKRB1 skos:exactMatch ncbigene:623 semapv:UnspecifiedMatching -OMIM:600338 AADAC skos:exactMatch hgnc:AADAC semapv:UnspecifiedMatching +OMIM:600338 AADAC skos:exactMatch hgnc.symbol:17 semapv:UnspecifiedMatching +OMIM:600338 AADAC skos:exactMatch hgnc.symbol:AADAC semapv:UnspecifiedMatching OMIM:600338 AADAC skos:exactMatch ncbigene:13 semapv:UnspecifiedMatching -OMIM:600339 HDGF skos:exactMatch hgnc:HDGF semapv:UnspecifiedMatching +OMIM:600339 HDGF skos:exactMatch hgnc.symbol:4856 semapv:UnspecifiedMatching +OMIM:600339 HDGF skos:exactMatch hgnc.symbol:HDGF semapv:UnspecifiedMatching OMIM:600339 HDGF skos:exactMatch ncbigene:3068 semapv:UnspecifiedMatching -OMIM:600340 PLLP skos:exactMatch hgnc:PLLP semapv:UnspecifiedMatching +OMIM:600340 PLLP skos:exactMatch hgnc.symbol:18553 semapv:UnspecifiedMatching +OMIM:600340 PLLP skos:exactMatch hgnc.symbol:PLLP semapv:UnspecifiedMatching OMIM:600340 PLLP skos:exactMatch ncbigene:51090 semapv:UnspecifiedMatching -OMIM:600341 TYRO3 skos:exactMatch hgnc:TYRO3 semapv:UnspecifiedMatching +OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:12446 semapv:UnspecifiedMatching +OMIM:600341 TYRO3 skos:exactMatch hgnc.symbol:TYRO3 semapv:UnspecifiedMatching OMIM:600341 TYRO3 skos:exactMatch ncbigene:7301 semapv:UnspecifiedMatching -OMIM:600342 RGR skos:exactMatch hgnc:RGR semapv:UnspecifiedMatching +OMIM:600342 RGR skos:exactMatch hgnc.symbol:9990 semapv:UnspecifiedMatching +OMIM:600342 RGR skos:exactMatch hgnc.symbol:RGR semapv:UnspecifiedMatching OMIM:600342 RGR skos:exactMatch ncbigene:5995 semapv:UnspecifiedMatching -OMIM:600345 BTC skos:exactMatch hgnc:BTC semapv:UnspecifiedMatching +OMIM:600345 BTC skos:exactMatch hgnc.symbol:1121 semapv:UnspecifiedMatching +OMIM:600345 BTC skos:exactMatch hgnc.symbol:BTC semapv:UnspecifiedMatching OMIM:600345 BTC skos:exactMatch ncbigene:685 semapv:UnspecifiedMatching -OMIM:600346 PCGF2 skos:exactMatch hgnc:PCGF2 semapv:UnspecifiedMatching +OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:12929 semapv:UnspecifiedMatching +OMIM:600346 PCGF2 skos:exactMatch hgnc.symbol:PCGF2 semapv:UnspecifiedMatching OMIM:600346 PCGF2 skos:exactMatch ncbigene:7703 semapv:UnspecifiedMatching -OMIM:600347 BCAN skos:exactMatch hgnc:BCAN semapv:UnspecifiedMatching +OMIM:600347 BCAN skos:exactMatch hgnc.symbol:23059 semapv:UnspecifiedMatching +OMIM:600347 BCAN skos:exactMatch hgnc.symbol:BCAN semapv:UnspecifiedMatching OMIM:600347 BCAN skos:exactMatch ncbigene:63827 semapv:UnspecifiedMatching -OMIM:600349 ID1 skos:exactMatch hgnc:ID1 semapv:UnspecifiedMatching +OMIM:600349 ID1 skos:exactMatch hgnc.symbol:5360 semapv:UnspecifiedMatching +OMIM:600349 ID1 skos:exactMatch hgnc.symbol:ID1 semapv:UnspecifiedMatching OMIM:600349 ID1 skos:exactMatch ncbigene:3397 semapv:UnspecifiedMatching -OMIM:600353 S100A7 skos:exactMatch hgnc:S100A7 semapv:UnspecifiedMatching +OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:10497 semapv:UnspecifiedMatching +OMIM:600353 S100A7 skos:exactMatch hgnc.symbol:S100A7 semapv:UnspecifiedMatching OMIM:600353 S100A7 skos:exactMatch ncbigene:6278 semapv:UnspecifiedMatching -OMIM:600354 SMN1 skos:exactMatch hgnc:SMN1 semapv:UnspecifiedMatching +OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:11117 semapv:UnspecifiedMatching +OMIM:600354 SMN1 skos:exactMatch hgnc.symbol:SMN1 semapv:UnspecifiedMatching OMIM:600354 SMN1 skos:exactMatch ncbigene:6606 semapv:UnspecifiedMatching -OMIM:600355 NAIP skos:exactMatch hgnc:NAIP semapv:UnspecifiedMatching +OMIM:600355 NAIP skos:exactMatch hgnc.symbol:7634 semapv:UnspecifiedMatching +OMIM:600355 NAIP skos:exactMatch hgnc.symbol:NAIP semapv:UnspecifiedMatching OMIM:600355 NAIP skos:exactMatch ncbigene:4671 semapv:UnspecifiedMatching -OMIM:600357 RPS8 skos:exactMatch hgnc:RPS8 semapv:UnspecifiedMatching +OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:10441 semapv:UnspecifiedMatching +OMIM:600357 RPS8 skos:exactMatch hgnc.symbol:RPS8 semapv:UnspecifiedMatching OMIM:600357 RPS8 skos:exactMatch ncbigene:6202 semapv:UnspecifiedMatching -OMIM:600358 GMPS skos:exactMatch hgnc:GMPS semapv:UnspecifiedMatching +OMIM:600358 GMPS skos:exactMatch hgnc.symbol:4378 semapv:UnspecifiedMatching +OMIM:600358 GMPS skos:exactMatch hgnc.symbol:GMPS semapv:UnspecifiedMatching OMIM:600358 GMPS skos:exactMatch ncbigene:8833 semapv:UnspecifiedMatching -OMIM:600359 KCNJ1 skos:exactMatch hgnc:KCNJ1 semapv:UnspecifiedMatching +OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:6255 semapv:UnspecifiedMatching +OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:KCNJ1 semapv:UnspecifiedMatching OMIM:600359 KCNJ1 skos:exactMatch ncbigene:3758 semapv:UnspecifiedMatching OMIM:600362 FLII skos:exactMatch UMLS:C1414634 semapv:UnspecifiedMatching -OMIM:600362 FLII skos:exactMatch hgnc:FLII semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch hgnc.symbol:3750 semapv:UnspecifiedMatching +OMIM:600362 FLII skos:exactMatch hgnc.symbol:FLII semapv:UnspecifiedMatching OMIM:600362 FLII skos:exactMatch ncbigene:2314 semapv:UnspecifiedMatching -OMIM:600364 GUCA1A skos:exactMatch hgnc:GUCA1A semapv:UnspecifiedMatching +OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:4678 semapv:UnspecifiedMatching +OMIM:600364 GUCA1A skos:exactMatch hgnc.symbol:GUCA1A semapv:UnspecifiedMatching OMIM:600364 GUCA1A skos:exactMatch ncbigene:2978 semapv:UnspecifiedMatching -OMIM:600365 ABR skos:exactMatch hgnc:ABR semapv:UnspecifiedMatching +OMIM:600365 ABR skos:exactMatch hgnc.symbol:81 semapv:UnspecifiedMatching +OMIM:600365 ABR skos:exactMatch hgnc.symbol:ABR semapv:UnspecifiedMatching OMIM:600365 ABR skos:exactMatch ncbigene:29 semapv:UnspecifiedMatching -OMIM:600366 ISL1 skos:exactMatch hgnc:ISL1 semapv:UnspecifiedMatching +OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:6132 semapv:UnspecifiedMatching +OMIM:600366 ISL1 skos:exactMatch hgnc.symbol:ISL1 semapv:UnspecifiedMatching OMIM:600366 ISL1 skos:exactMatch ncbigene:3670 semapv:UnspecifiedMatching -OMIM:600367 CSTF3 skos:exactMatch hgnc:CSTF3 semapv:UnspecifiedMatching +OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:2485 semapv:UnspecifiedMatching +OMIM:600367 CSTF3 skos:exactMatch hgnc.symbol:CSTF3 semapv:UnspecifiedMatching OMIM:600367 CSTF3 skos:exactMatch ncbigene:1479 semapv:UnspecifiedMatching -OMIM:600369 CSTF1 skos:exactMatch hgnc:CSTF1 semapv:UnspecifiedMatching +OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:2483 semapv:UnspecifiedMatching +OMIM:600369 CSTF1 skos:exactMatch hgnc.symbol:CSTF1 semapv:UnspecifiedMatching OMIM:600369 CSTF1 skos:exactMatch ncbigene:1477 semapv:UnspecifiedMatching OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1420160 semapv:UnspecifiedMatching OMIM:600370 SLC25A3 skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching -OMIM:600370 SLC25A3 skos:exactMatch hgnc:SLC25A3 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:10989 semapv:UnspecifiedMatching +OMIM:600370 SLC25A3 skos:exactMatch hgnc.symbol:SLC25A3 semapv:UnspecifiedMatching OMIM:600370 SLC25A3 skos:exactMatch ncbigene:5250 semapv:UnspecifiedMatching -OMIM:600372 NEDD1 skos:exactMatch hgnc:NEDD1 semapv:UnspecifiedMatching +OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:7723 semapv:UnspecifiedMatching +OMIM:600372 NEDD1 skos:exactMatch hgnc.symbol:NEDD1 semapv:UnspecifiedMatching OMIM:600372 NEDD1 skos:exactMatch ncbigene:121441 semapv:UnspecifiedMatching OMIM:600374 BBS4 skos:exactMatch UMLS:C1412749 semapv:UnspecifiedMatching OMIM:600374 BBS4 skos:exactMatch UMLS:C2936864 semapv:UnspecifiedMatching -OMIM:600374 BBS4 skos:exactMatch hgnc:BBS4 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:969 semapv:UnspecifiedMatching +OMIM:600374 BBS4 skos:exactMatch hgnc.symbol:BBS4 semapv:UnspecifiedMatching OMIM:600374 BBS4 skos:exactMatch ncbigene:585 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch UMLS:C1337031 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch UMLS:C4310651 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching -OMIM:600375 XRCC2 skos:exactMatch hgnc:XRCC2 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:12829 semapv:UnspecifiedMatching +OMIM:600375 XRCC2 skos:exactMatch hgnc.symbol:XRCC2 semapv:UnspecifiedMatching OMIM:600375 XRCC2 skos:exactMatch ncbigene:7516 semapv:UnspecifiedMatching -OMIM:600377 GALR1 skos:exactMatch hgnc:GALR1 semapv:UnspecifiedMatching +OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:4132 semapv:UnspecifiedMatching +OMIM:600377 GALR1 skos:exactMatch hgnc.symbol:GALR1 semapv:UnspecifiedMatching OMIM:600377 GALR1 skos:exactMatch ncbigene:2587 semapv:UnspecifiedMatching -OMIM:600378 IMMT skos:exactMatch hgnc:IMMT semapv:UnspecifiedMatching +OMIM:600378 IMMT skos:exactMatch hgnc.symbol:6047 semapv:UnspecifiedMatching +OMIM:600378 IMMT skos:exactMatch hgnc.symbol:IMMT semapv:UnspecifiedMatching OMIM:600378 IMMT skos:exactMatch ncbigene:10989 semapv:UnspecifiedMatching -OMIM:600379 MYT1 skos:exactMatch hgnc:MYT1 semapv:UnspecifiedMatching +OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:7622 semapv:UnspecifiedMatching +OMIM:600379 MYT1 skos:exactMatch hgnc.symbol:MYT1 semapv:UnspecifiedMatching OMIM:600379 MYT1 skos:exactMatch ncbigene:4661 semapv:UnspecifiedMatching -OMIM:600380 NR1H2 skos:exactMatch hgnc:NR1H2 semapv:UnspecifiedMatching +OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:7965 semapv:UnspecifiedMatching +OMIM:600380 NR1H2 skos:exactMatch hgnc.symbol:NR1H2 semapv:UnspecifiedMatching OMIM:600380 NR1H2 skos:exactMatch ncbigene:7376 semapv:UnspecifiedMatching -OMIM:600381 KTN1 skos:exactMatch hgnc:KTN1 semapv:UnspecifiedMatching +OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:6467 semapv:UnspecifiedMatching +OMIM:600381 KTN1 skos:exactMatch hgnc.symbol:KTN1 semapv:UnspecifiedMatching OMIM:600381 KTN1 skos:exactMatch ncbigene:3895 semapv:UnspecifiedMatching -OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc:DENND4A semapv:UnspecifiedMatching +OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:24321 semapv:UnspecifiedMatching +OMIM:600382 myc promoter-binding protein skos:exactMatch hgnc.symbol:DENND4A semapv:UnspecifiedMatching OMIM:600382 myc promoter-binding protein skos:exactMatch ncbigene:10260 semapv:UnspecifiedMatching -OMIM:600385 ADCY7 skos:exactMatch hgnc:ADCY7 semapv:UnspecifiedMatching +OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:238 semapv:UnspecifiedMatching +OMIM:600385 ADCY7 skos:exactMatch hgnc.symbol:ADCY7 semapv:UnspecifiedMatching OMIM:600385 ADCY7 skos:exactMatch ncbigene:113 semapv:UnspecifiedMatching -OMIM:600386 ID2 skos:exactMatch hgnc:ID2 semapv:UnspecifiedMatching +OMIM:600386 ID2 skos:exactMatch hgnc.symbol:5361 semapv:UnspecifiedMatching +OMIM:600386 ID2 skos:exactMatch hgnc.symbol:ID2 semapv:UnspecifiedMatching OMIM:600386 ID2 skos:exactMatch ncbigene:3398 semapv:UnspecifiedMatching -OMIM:600387 BST1 skos:exactMatch hgnc:BST1 semapv:UnspecifiedMatching +OMIM:600387 BST1 skos:exactMatch hgnc.symbol:1118 semapv:UnspecifiedMatching +OMIM:600387 BST1 skos:exactMatch hgnc.symbol:BST1 semapv:UnspecifiedMatching OMIM:600387 BST1 skos:exactMatch ncbigene:683 semapv:UnspecifiedMatching -OMIM:600388 MEP1A skos:exactMatch hgnc:MEP1A semapv:UnspecifiedMatching +OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:7015 semapv:UnspecifiedMatching +OMIM:600388 MEP1A skos:exactMatch hgnc.symbol:MEP1A semapv:UnspecifiedMatching OMIM:600388 MEP1A skos:exactMatch ncbigene:4224 semapv:UnspecifiedMatching OMIM:600389 MEP1B skos:exactMatch UMLS:C1417118 semapv:UnspecifiedMatching -OMIM:600389 MEP1B skos:exactMatch hgnc:MEP1B semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:7020 semapv:UnspecifiedMatching +OMIM:600389 MEP1B skos:exactMatch hgnc.symbol:MEP1B semapv:UnspecifiedMatching OMIM:600389 MEP1B skos:exactMatch ncbigene:4225 semapv:UnspecifiedMatching -OMIM:600390 USF2 skos:exactMatch hgnc:USF2 semapv:UnspecifiedMatching +OMIM:600390 USF2 skos:exactMatch hgnc.symbol:12594 semapv:UnspecifiedMatching +OMIM:600390 USF2 skos:exactMatch hgnc.symbol:USF2 semapv:UnspecifiedMatching OMIM:600390 USF2 skos:exactMatch ncbigene:7392 semapv:UnspecifiedMatching -OMIM:600391 GCNT1 skos:exactMatch hgnc:GCNT1 semapv:UnspecifiedMatching +OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:4203 semapv:UnspecifiedMatching +OMIM:600391 GCNT1 skos:exactMatch hgnc.symbol:GCNT1 semapv:UnspecifiedMatching OMIM:600391 GCNT1 skos:exactMatch ncbigene:2650 semapv:UnspecifiedMatching -OMIM:600392 RAD52 skos:exactMatch hgnc:RAD52 semapv:UnspecifiedMatching +OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:9824 semapv:UnspecifiedMatching +OMIM:600392 RAD52 skos:exactMatch hgnc.symbol:RAD52 semapv:UnspecifiedMatching OMIM:600392 RAD52 skos:exactMatch ncbigene:5893 semapv:UnspecifiedMatching OMIM:600393 FEN1 skos:exactMatch UMLS:C1414583 semapv:UnspecifiedMatching -OMIM:600393 FEN1 skos:exactMatch hgnc:FEN1 semapv:UnspecifiedMatching +OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:3650 semapv:UnspecifiedMatching +OMIM:600393 FEN1 skos:exactMatch hgnc.symbol:FEN1 semapv:UnspecifiedMatching OMIM:600393 FEN1 skos:exactMatch ncbigene:2237 semapv:UnspecifiedMatching -OMIM:600395 GPC1 skos:exactMatch hgnc:GPC1 semapv:UnspecifiedMatching +OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:4449 semapv:UnspecifiedMatching +OMIM:600395 GPC1 skos:exactMatch hgnc.symbol:GPC1 semapv:UnspecifiedMatching OMIM:600395 GPC1 skos:exactMatch ncbigene:2817 semapv:UnspecifiedMatching OMIM:600396 DHX8 skos:exactMatch UMLS:C1413965 semapv:UnspecifiedMatching -OMIM:600396 DHX8 skos:exactMatch hgnc:DHX8 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:2749 semapv:UnspecifiedMatching +OMIM:600396 DHX8 skos:exactMatch hgnc.symbol:DHX8 semapv:UnspecifiedMatching OMIM:600396 DHX8 skos:exactMatch ncbigene:1659 semapv:UnspecifiedMatching OMIM:600397 KCNB1 skos:exactMatch UMLS:C1416554 semapv:UnspecifiedMatching OMIM:600397 KCNB1 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching -OMIM:600397 KCNB1 skos:exactMatch hgnc:KCNB1 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:6231 semapv:UnspecifiedMatching +OMIM:600397 KCNB1 skos:exactMatch hgnc.symbol:KCNB1 semapv:UnspecifiedMatching OMIM:600397 KCNB1 skos:exactMatch ncbigene:3745 semapv:UnspecifiedMatching -OMIM:600398 ZNF160 skos:exactMatch hgnc:ZNF160 semapv:UnspecifiedMatching +OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:12948 semapv:UnspecifiedMatching +OMIM:600398 ZNF160 skos:exactMatch hgnc.symbol:ZNF160 semapv:UnspecifiedMatching OMIM:600398 ZNF160 skos:exactMatch ncbigene:90338 semapv:UnspecifiedMatching -OMIM:600400 PREP skos:exactMatch hgnc:PREP semapv:UnspecifiedMatching +OMIM:600400 PREP skos:exactMatch hgnc.symbol:9358 semapv:UnspecifiedMatching +OMIM:600400 PREP skos:exactMatch hgnc.symbol:PREP semapv:UnspecifiedMatching OMIM:600400 PREP skos:exactMatch ncbigene:5550 semapv:UnspecifiedMatching -OMIM:600403 FAP skos:exactMatch hgnc:FAP semapv:UnspecifiedMatching +OMIM:600403 FAP skos:exactMatch hgnc.symbol:3590 semapv:UnspecifiedMatching +OMIM:600403 FAP skos:exactMatch hgnc.symbol:FAP semapv:UnspecifiedMatching OMIM:600403 FAP skos:exactMatch ncbigene:2191 semapv:UnspecifiedMatching -OMIM:600404 RFC2 skos:exactMatch hgnc:RFC2 semapv:UnspecifiedMatching +OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:9970 semapv:UnspecifiedMatching +OMIM:600404 RFC2 skos:exactMatch hgnc.symbol:RFC2 semapv:UnspecifiedMatching OMIM:600404 RFC2 skos:exactMatch ncbigene:5982 semapv:UnspecifiedMatching -OMIM:600405 RFC3 skos:exactMatch hgnc:RFC3 semapv:UnspecifiedMatching +OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:9971 semapv:UnspecifiedMatching +OMIM:600405 RFC3 skos:exactMatch hgnc.symbol:RFC3 semapv:UnspecifiedMatching OMIM:600405 RFC3 skos:exactMatch ncbigene:5983 semapv:UnspecifiedMatching -OMIM:600407 RFC5 skos:exactMatch hgnc:RFC5 semapv:UnspecifiedMatching +OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:9973 semapv:UnspecifiedMatching +OMIM:600407 RFC5 skos:exactMatch hgnc.symbol:RFC5 semapv:UnspecifiedMatching OMIM:600407 RFC5 skos:exactMatch ncbigene:5985 semapv:UnspecifiedMatching -OMIM:600408 DDR1 skos:exactMatch hgnc:DDR1 semapv:UnspecifiedMatching +OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:2730 semapv:UnspecifiedMatching +OMIM:600408 DDR1 skos:exactMatch hgnc.symbol:DDR1 semapv:UnspecifiedMatching OMIM:600408 DDR1 skos:exactMatch ncbigene:780 semapv:UnspecifiedMatching -OMIM:600409 PPARD skos:exactMatch hgnc:PPARD semapv:UnspecifiedMatching +OMIM:600409 PPARD skos:exactMatch hgnc.symbol:9235 semapv:UnspecifiedMatching +OMIM:600409 PPARD skos:exactMatch hgnc.symbol:PPARD semapv:UnspecifiedMatching OMIM:600409 PPARD skos:exactMatch ncbigene:5467 semapv:UnspecifiedMatching -OMIM:600410 TNFAIP6 skos:exactMatch hgnc:TNFAIP6 semapv:UnspecifiedMatching +OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:11898 semapv:UnspecifiedMatching +OMIM:600410 TNFAIP6 skos:exactMatch hgnc.symbol:TNFAIP6 semapv:UnspecifiedMatching OMIM:600410 TNFAIP6 skos:exactMatch ncbigene:7130 semapv:UnspecifiedMatching -OMIM:600411 GBP1 skos:exactMatch hgnc:GBP1 semapv:UnspecifiedMatching +OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:4182 semapv:UnspecifiedMatching +OMIM:600411 GBP1 skos:exactMatch hgnc.symbol:GBP1 semapv:UnspecifiedMatching OMIM:600411 GBP1 skos:exactMatch ncbigene:2633 semapv:UnspecifiedMatching -OMIM:600412 GBP2 skos:exactMatch hgnc:GBP2 semapv:UnspecifiedMatching +OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:4183 semapv:UnspecifiedMatching +OMIM:600412 GBP2 skos:exactMatch hgnc.symbol:GBP2 semapv:UnspecifiedMatching OMIM:600412 GBP2 skos:exactMatch ncbigene:2634 semapv:UnspecifiedMatching -OMIM:600413 GBP3 skos:exactMatch hgnc:GBP3 semapv:UnspecifiedMatching +OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:4184 semapv:UnspecifiedMatching +OMIM:600413 GBP3 skos:exactMatch hgnc.symbol:GBP3 semapv:UnspecifiedMatching OMIM:600413 GBP3 skos:exactMatch ncbigene:2635 semapv:UnspecifiedMatching -OMIM:600414 PEX5 skos:exactMatch hgnc:PEX5 semapv:UnspecifiedMatching +OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:9719 semapv:UnspecifiedMatching +OMIM:600414 PEX5 skos:exactMatch hgnc.symbol:PEX5 semapv:UnspecifiedMatching OMIM:600414 PEX5 skos:exactMatch ncbigene:5830 semapv:UnspecifiedMatching -OMIM:600415 TTPA skos:exactMatch hgnc:TTPA semapv:UnspecifiedMatching +OMIM:600415 TTPA skos:exactMatch hgnc.symbol:12404 semapv:UnspecifiedMatching +OMIM:600415 TTPA skos:exactMatch hgnc.symbol:TTPA semapv:UnspecifiedMatching OMIM:600415 TTPA skos:exactMatch ncbigene:7274 semapv:UnspecifiedMatching OMIM:600417 NT5C2 skos:exactMatch UMLS:C1417862 semapv:UnspecifiedMatching OMIM:600417 NT5C2 skos:exactMatch UMLS:C4016664 semapv:UnspecifiedMatching -OMIM:600417 NT5C2 skos:exactMatch hgnc:NT5C2 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:8022 semapv:UnspecifiedMatching +OMIM:600417 NT5C2 skos:exactMatch hgnc.symbol:NT5C2 semapv:UnspecifiedMatching OMIM:600417 NT5C2 skos:exactMatch ncbigene:22978 semapv:UnspecifiedMatching -OMIM:600418 AMPH skos:exactMatch hgnc:AMPH semapv:UnspecifiedMatching +OMIM:600418 AMPH skos:exactMatch hgnc.symbol:471 semapv:UnspecifiedMatching +OMIM:600418 AMPH skos:exactMatch hgnc.symbol:AMPH semapv:UnspecifiedMatching OMIM:600418 AMPH skos:exactMatch ncbigene:273 semapv:UnspecifiedMatching -OMIM:600421 GLRA3 skos:exactMatch hgnc:GLRA3 semapv:UnspecifiedMatching +OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:4328 semapv:UnspecifiedMatching +OMIM:600421 GLRA3 skos:exactMatch hgnc.symbol:GLRA3 semapv:UnspecifiedMatching OMIM:600421 GLRA3 skos:exactMatch ncbigene:8001 semapv:UnspecifiedMatching -OMIM:600422 FABP6 skos:exactMatch hgnc:FABP6 semapv:UnspecifiedMatching +OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:3561 semapv:UnspecifiedMatching +OMIM:600422 FABP6 skos:exactMatch hgnc.symbol:FABP6 semapv:UnspecifiedMatching OMIM:600422 FABP6 skos:exactMatch ncbigene:2172 semapv:UnspecifiedMatching -OMIM:600423 ECE1 skos:exactMatch hgnc:ECE1 semapv:UnspecifiedMatching +OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:3146 semapv:UnspecifiedMatching +OMIM:600423 ECE1 skos:exactMatch hgnc.symbol:ECE1 semapv:UnspecifiedMatching OMIM:600423 ECE1 skos:exactMatch ncbigene:1889 semapv:UnspecifiedMatching -OMIM:600424 SLC19A1 skos:exactMatch hgnc:SLC19A1 semapv:UnspecifiedMatching +OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:10937 semapv:UnspecifiedMatching +OMIM:600424 SLC19A1 skos:exactMatch hgnc.symbol:SLC19A1 semapv:UnspecifiedMatching OMIM:600424 SLC19A1 skos:exactMatch ncbigene:6573 semapv:UnspecifiedMatching -OMIM:600426 E2F2 skos:exactMatch hgnc:E2F2 semapv:UnspecifiedMatching +OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:3114 semapv:UnspecifiedMatching +OMIM:600426 E2F2 skos:exactMatch hgnc.symbol:E2F2 semapv:UnspecifiedMatching OMIM:600426 E2F2 skos:exactMatch ncbigene:1870 semapv:UnspecifiedMatching -OMIM:600427 E2F3 skos:exactMatch hgnc:E2F3 semapv:UnspecifiedMatching +OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:3115 semapv:UnspecifiedMatching +OMIM:600427 E2F3 skos:exactMatch hgnc.symbol:E2F3 semapv:UnspecifiedMatching OMIM:600427 E2F3 skos:exactMatch ncbigene:1871 semapv:UnspecifiedMatching -OMIM:600428 VAV2 skos:exactMatch hgnc:VAV2 semapv:UnspecifiedMatching +OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:12658 semapv:UnspecifiedMatching +OMIM:600428 VAV2 skos:exactMatch hgnc.symbol:VAV2 semapv:UnspecifiedMatching OMIM:600428 VAV2 skos:exactMatch ncbigene:7410 semapv:UnspecifiedMatching -OMIM:600429 GCNT2 skos:exactMatch hgnc:GCNT2 semapv:UnspecifiedMatching +OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:4204 semapv:UnspecifiedMatching +OMIM:600429 GCNT2 skos:exactMatch hgnc.symbol:GCNT2 semapv:UnspecifiedMatching OMIM:600429 GCNT2 skos:exactMatch ncbigene:2651 semapv:UnspecifiedMatching -OMIM:600431 CDKN2B skos:exactMatch hgnc:CDKN2B semapv:UnspecifiedMatching +OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:1788 semapv:UnspecifiedMatching +OMIM:600431 CDKN2B skos:exactMatch hgnc.symbol:CDKN2B semapv:UnspecifiedMatching OMIM:600431 CDKN2B skos:exactMatch ncbigene:1030 semapv:UnspecifiedMatching -OMIM:600432 CBLN1 skos:exactMatch hgnc:CBLN1 semapv:UnspecifiedMatching +OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:1543 semapv:UnspecifiedMatching +OMIM:600432 CBLN1 skos:exactMatch hgnc.symbol:CBLN1 semapv:UnspecifiedMatching OMIM:600432 CBLN1 skos:exactMatch ncbigene:869 semapv:UnspecifiedMatching -OMIM:600433 CBLN2 skos:exactMatch hgnc:CBLN2 semapv:UnspecifiedMatching +OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:1544 semapv:UnspecifiedMatching +OMIM:600433 CBLN2 skos:exactMatch hgnc.symbol:CBLN2 semapv:UnspecifiedMatching OMIM:600433 CBLN2 skos:exactMatch ncbigene:147381 semapv:UnspecifiedMatching -OMIM:600434 FABP4 skos:exactMatch hgnc:FABP4 semapv:UnspecifiedMatching +OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:3559 semapv:UnspecifiedMatching +OMIM:600434 FABP4 skos:exactMatch hgnc.symbol:FABP4 semapv:UnspecifiedMatching OMIM:600434 FABP4 skos:exactMatch ncbigene:2167 semapv:UnspecifiedMatching -OMIM:600435 CTF1 skos:exactMatch hgnc:CTF1 semapv:UnspecifiedMatching +OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:2499 semapv:UnspecifiedMatching +OMIM:600435 CTF1 skos:exactMatch hgnc.symbol:CTF1 semapv:UnspecifiedMatching OMIM:600435 CTF1 skos:exactMatch ncbigene:1489 semapv:UnspecifiedMatching -OMIM:600436 GSTT1 skos:exactMatch hgnc:GSTT1 semapv:UnspecifiedMatching +OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:4641 semapv:UnspecifiedMatching +OMIM:600436 GSTT1 skos:exactMatch hgnc.symbol:GSTT1 semapv:UnspecifiedMatching OMIM:600436 GSTT1 skos:exactMatch ncbigene:2952 semapv:UnspecifiedMatching -OMIM:600437 GSTT2 skos:exactMatch hgnc:GSTT2 semapv:UnspecifiedMatching +OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:4642 semapv:UnspecifiedMatching +OMIM:600437 GSTT2 skos:exactMatch hgnc.symbol:GSTT2 semapv:UnspecifiedMatching OMIM:600437 GSTT2 skos:exactMatch ncbigene:2953 semapv:UnspecifiedMatching OMIM:600438 TFAM skos:exactMatch UMLS:C1420696 semapv:UnspecifiedMatching OMIM:600438 TFAM skos:exactMatch UMLS:C4310690 semapv:UnspecifiedMatching -OMIM:600438 TFAM skos:exactMatch hgnc:TFAM semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch hgnc.symbol:11741 semapv:UnspecifiedMatching +OMIM:600438 TFAM skos:exactMatch hgnc.symbol:TFAM semapv:UnspecifiedMatching OMIM:600438 TFAM skos:exactMatch ncbigene:7019 semapv:UnspecifiedMatching OMIM:600439 SSBP1 skos:exactMatch UMLS:C1420424 semapv:UnspecifiedMatching OMIM:600439 SSBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600439 SSBP1 skos:exactMatch UMLS:C5435585 semapv:UnspecifiedMatching -OMIM:600439 SSBP1 skos:exactMatch hgnc:SSBP1 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch hgnc.symbol:11317 semapv:UnspecifiedMatching +OMIM:600439 SSBP1 skos:exactMatch hgnc.symbol:SSBP1 semapv:UnspecifiedMatching OMIM:600439 SSBP1 skos:exactMatch ncbigene:6742 semapv:UnspecifiedMatching -OMIM:600440 ENDOG skos:exactMatch hgnc:ENDOG semapv:UnspecifiedMatching +OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:3346 semapv:UnspecifiedMatching +OMIM:600440 ENDOG skos:exactMatch hgnc.symbol:ENDOG semapv:UnspecifiedMatching OMIM:600440 ENDOG skos:exactMatch ncbigene:2021 semapv:UnspecifiedMatching -OMIM:600441 GAS6 skos:exactMatch hgnc:GAS6 semapv:UnspecifiedMatching +OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:4168 semapv:UnspecifiedMatching +OMIM:600441 GAS6 skos:exactMatch hgnc.symbol:GAS6 semapv:UnspecifiedMatching OMIM:600441 GAS6 skos:exactMatch ncbigene:2621 semapv:UnspecifiedMatching OMIM:600442 AQP5 skos:exactMatch UMLS:C1412495 semapv:UnspecifiedMatching OMIM:600442 AQP5 skos:exactMatch UMLS:C1838359 semapv:UnspecifiedMatching -OMIM:600442 AQP5 skos:exactMatch hgnc:AQP5 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:638 semapv:UnspecifiedMatching +OMIM:600442 AQP5 skos:exactMatch hgnc.symbol:AQP5 semapv:UnspecifiedMatching OMIM:600442 AQP5 skos:exactMatch ncbigene:362 semapv:UnspecifiedMatching -OMIM:600443 GLRX skos:exactMatch hgnc:GLRX semapv:UnspecifiedMatching +OMIM:600443 GLRX skos:exactMatch hgnc.symbol:4330 semapv:UnspecifiedMatching +OMIM:600443 GLRX skos:exactMatch hgnc.symbol:GLRX semapv:UnspecifiedMatching OMIM:600443 GLRX skos:exactMatch ncbigene:2745 semapv:UnspecifiedMatching -OMIM:600444 SLC5A3 skos:exactMatch hgnc:SLC5A3 semapv:UnspecifiedMatching +OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:11038 semapv:UnspecifiedMatching +OMIM:600444 SLC5A3 skos:exactMatch hgnc.symbol:SLC5A3 semapv:UnspecifiedMatching OMIM:600444 SLC5A3 skos:exactMatch ncbigene:6526 semapv:UnspecifiedMatching -OMIM:600445 ADORA3 skos:exactMatch hgnc:ADORA3 semapv:UnspecifiedMatching +OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:268 semapv:UnspecifiedMatching +OMIM:600445 ADORA3 skos:exactMatch hgnc.symbol:ADORA3 semapv:UnspecifiedMatching OMIM:600445 ADORA3 skos:exactMatch ncbigene:140 semapv:UnspecifiedMatching OMIM:600446 ADORA2B skos:exactMatch UMLS:C1412247 semapv:UnspecifiedMatching -OMIM:600446 ADORA2B skos:exactMatch hgnc:ADORA2B semapv:UnspecifiedMatching +OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:264 semapv:UnspecifiedMatching +OMIM:600446 ADORA2B skos:exactMatch hgnc.symbol:ADORA2B semapv:UnspecifiedMatching OMIM:600446 ADORA2B skos:exactMatch ncbigene:136 semapv:UnspecifiedMatching -OMIM:600447 MAP3K12 skos:exactMatch hgnc:MAP3K12 semapv:UnspecifiedMatching +OMIM:600447 MAP3K12 skos:exactMatch hgnc.symbol:6851 semapv:UnspecifiedMatching +OMIM:600447 MAP3K12 skos:exactMatch hgnc.symbol:MAP3K12 semapv:UnspecifiedMatching OMIM:600447 MAP3K12 skos:exactMatch ncbigene:7786 semapv:UnspecifiedMatching -OMIM:600448 PRKCQ skos:exactMatch hgnc:PRKCQ semapv:UnspecifiedMatching +OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:9410 semapv:UnspecifiedMatching +OMIM:600448 PRKCQ skos:exactMatch hgnc.symbol:PRKCQ semapv:UnspecifiedMatching OMIM:600448 PRKCQ skos:exactMatch ncbigene:5588 semapv:UnspecifiedMatching -OMIM:600449 AKR1C1 skos:exactMatch hgnc:AKR1C1 semapv:UnspecifiedMatching +OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:384 semapv:UnspecifiedMatching +OMIM:600449 AKR1C1 skos:exactMatch hgnc.symbol:AKR1C1 semapv:UnspecifiedMatching OMIM:600449 AKR1C1 skos:exactMatch ncbigene:1645 semapv:UnspecifiedMatching -OMIM:600450 AKR1C2 skos:exactMatch hgnc:AKR1C2 semapv:UnspecifiedMatching +OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:385 semapv:UnspecifiedMatching +OMIM:600450 AKR1C2 skos:exactMatch hgnc.symbol:AKR1C2 semapv:UnspecifiedMatching OMIM:600450 AKR1C2 skos:exactMatch ncbigene:1646 semapv:UnspecifiedMatching -OMIM:600451 AKR1C4 skos:exactMatch hgnc:AKR1C4 semapv:UnspecifiedMatching +OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:387 semapv:UnspecifiedMatching +OMIM:600451 AKR1C4 skos:exactMatch hgnc.symbol:AKR1C4 semapv:UnspecifiedMatching OMIM:600451 AKR1C4 skos:exactMatch ncbigene:1109 semapv:UnspecifiedMatching -OMIM:600453 TRIM25 skos:exactMatch hgnc:TRIM25 semapv:UnspecifiedMatching +OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:12932 semapv:UnspecifiedMatching +OMIM:600453 TRIM25 skos:exactMatch hgnc.symbol:TRIM25 semapv:UnspecifiedMatching OMIM:600453 TRIM25 skos:exactMatch ncbigene:7706 semapv:UnspecifiedMatching -OMIM:600454 RPS3 skos:exactMatch hgnc:RPS3 semapv:UnspecifiedMatching +OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:10420 semapv:UnspecifiedMatching +OMIM:600454 RPS3 skos:exactMatch hgnc.symbol:RPS3 semapv:UnspecifiedMatching OMIM:600454 RPS3 skos:exactMatch ncbigene:6188 semapv:UnspecifiedMatching -OMIM:600455 RNU15A skos:exactMatch hgnc:SNORD15A semapv:UnspecifiedMatching +OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:10114 semapv:UnspecifiedMatching +OMIM:600455 RNU15A skos:exactMatch hgnc.symbol:SNORD15A semapv:UnspecifiedMatching OMIM:600455 RNU15A skos:exactMatch ncbigene:6079 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch UMLS:C1334909 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch UMLS:C3151303 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching -OMIM:600456 NTRK2 skos:exactMatch hgnc:NTRK2 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:8032 semapv:UnspecifiedMatching +OMIM:600456 NTRK2 skos:exactMatch hgnc.symbol:NTRK2 semapv:UnspecifiedMatching OMIM:600456 NTRK2 skos:exactMatch ncbigene:4915 semapv:UnspecifiedMatching -OMIM:600463 ALDH1A3 skos:exactMatch hgnc:ALDH1A3 semapv:UnspecifiedMatching +OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:409 semapv:UnspecifiedMatching +OMIM:600463 ALDH1A3 skos:exactMatch hgnc.symbol:ALDH1A3 semapv:UnspecifiedMatching OMIM:600463 ALDH1A3 skos:exactMatch ncbigene:220 semapv:UnspecifiedMatching -OMIM:600464 ARF6 skos:exactMatch hgnc:ARF6 semapv:UnspecifiedMatching +OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:659 semapv:UnspecifiedMatching +OMIM:600464 ARF6 skos:exactMatch hgnc.symbol:ARF6 semapv:UnspecifiedMatching OMIM:600464 ARF6 skos:exactMatch ncbigene:382 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch UMLS:C1412404 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching -OMIM:600465 ANK3 skos:exactMatch hgnc:ANK3 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:494 semapv:UnspecifiedMatching +OMIM:600465 ANK3 skos:exactMatch hgnc.symbol:ANK3 semapv:UnspecifiedMatching OMIM:600465 ANK3 skos:exactMatch ncbigene:288 semapv:UnspecifiedMatching -OMIM:600466 ALDH3B1 skos:exactMatch hgnc:ALDH3B1 semapv:UnspecifiedMatching +OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:410 semapv:UnspecifiedMatching +OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:ALDH3B1 semapv:UnspecifiedMatching OMIM:600466 ALDH3B1 skos:exactMatch ncbigene:221 semapv:UnspecifiedMatching -OMIM:600469 NCBP1 skos:exactMatch hgnc:NCBP1 semapv:UnspecifiedMatching +OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:7658 semapv:UnspecifiedMatching +OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:NCBP1 semapv:UnspecifiedMatching OMIM:600469 NCBP1 skos:exactMatch ncbigene:4686 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch UMLS:C1421581 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching -OMIM:600470 ZIC1 skos:exactMatch hgnc:ZIC1 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:12872 semapv:UnspecifiedMatching +OMIM:600470 ZIC1 skos:exactMatch hgnc.symbol:ZIC1 semapv:UnspecifiedMatching OMIM:600470 ZIC1 skos:exactMatch ncbigene:7545 semapv:UnspecifiedMatching OMIM:600471 DEFA6 skos:exactMatch UMLS:C1413977 semapv:UnspecifiedMatching -OMIM:600471 DEFA6 skos:exactMatch hgnc:DEFA6 semapv:UnspecifiedMatching +OMIM:600471 DEFA6 skos:exactMatch hgnc.symbol:2765 semapv:UnspecifiedMatching +OMIM:600471 DEFA6 skos:exactMatch hgnc.symbol:DEFA6 semapv:UnspecifiedMatching OMIM:600471 DEFA6 skos:exactMatch ncbigene:1671 semapv:UnspecifiedMatching OMIM:600472 DEFA5 skos:exactMatch UMLS:C1413976 semapv:UnspecifiedMatching -OMIM:600472 DEFA5 skos:exactMatch hgnc:DEFA5 semapv:UnspecifiedMatching +OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:2764 semapv:UnspecifiedMatching +OMIM:600472 DEFA5 skos:exactMatch hgnc.symbol:DEFA5 semapv:UnspecifiedMatching OMIM:600472 DEFA5 skos:exactMatch ncbigene:1670 semapv:UnspecifiedMatching -OMIM:600473 PURA skos:exactMatch hgnc:PURA semapv:UnspecifiedMatching +OMIM:600473 PURA skos:exactMatch hgnc.symbol:9701 semapv:UnspecifiedMatching +OMIM:600473 PURA skos:exactMatch hgnc.symbol:PURA semapv:UnspecifiedMatching OMIM:600473 PURA skos:exactMatch ncbigene:5813 semapv:UnspecifiedMatching -OMIM:600474 CAMP skos:exactMatch hgnc:CAMP semapv:UnspecifiedMatching +OMIM:600474 CAMP skos:exactMatch hgnc.symbol:1472 semapv:UnspecifiedMatching +OMIM:600474 CAMP skos:exactMatch hgnc.symbol:CAMP semapv:UnspecifiedMatching OMIM:600474 CAMP skos:exactMatch ncbigene:820 semapv:UnspecifiedMatching -OMIM:600475 TAF10 skos:exactMatch hgnc:TAF10 semapv:UnspecifiedMatching +OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:11543 semapv:UnspecifiedMatching +OMIM:600475 TAF10 skos:exactMatch hgnc.symbol:TAF10 semapv:UnspecifiedMatching OMIM:600475 TAF10 skos:exactMatch ncbigene:6881 semapv:UnspecifiedMatching -OMIM:600477 SLC9A5 skos:exactMatch hgnc:SLC9A5 semapv:UnspecifiedMatching +OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:11078 semapv:UnspecifiedMatching +OMIM:600477 SLC9A5 skos:exactMatch hgnc.symbol:SLC9A5 semapv:UnspecifiedMatching OMIM:600477 SLC9A5 skos:exactMatch ncbigene:6553 semapv:UnspecifiedMatching -OMIM:600478 SKIC2 skos:exactMatch hgnc:SKIC2 semapv:UnspecifiedMatching +OMIM:600478 SKIC2 skos:exactMatch hgnc.symbol:SKIC2 semapv:UnspecifiedMatching OMIM:600478 SKIC2 skos:exactMatch ncbigene:6499 semapv:UnspecifiedMatching -OMIM:600480 TCF12 skos:exactMatch hgnc:TCF12 semapv:UnspecifiedMatching +OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:11623 semapv:UnspecifiedMatching +OMIM:600480 TCF12 skos:exactMatch hgnc.symbol:TCF12 semapv:UnspecifiedMatching OMIM:600480 TCF12 skos:exactMatch ncbigene:6938 semapv:UnspecifiedMatching -OMIM:600481 SREBF2 skos:exactMatch hgnc:SREBF2 semapv:UnspecifiedMatching +OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:11290 semapv:UnspecifiedMatching +OMIM:600481 SREBF2 skos:exactMatch hgnc.symbol:SREBF2 semapv:UnspecifiedMatching OMIM:600481 SREBF2 skos:exactMatch ncbigene:6721 semapv:UnspecifiedMatching -OMIM:600483 FGF8 skos:exactMatch hgnc:FGF8 semapv:UnspecifiedMatching +OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:3686 semapv:UnspecifiedMatching +OMIM:600483 FGF8 skos:exactMatch hgnc.symbol:FGF8 semapv:UnspecifiedMatching OMIM:600483 FGF8 skos:exactMatch ncbigene:2253 semapv:UnspecifiedMatching -OMIM:600487 PCSK4 skos:exactMatch hgnc:PCSK4 semapv:UnspecifiedMatching +OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:8746 semapv:UnspecifiedMatching +OMIM:600487 PCSK4 skos:exactMatch hgnc.symbol:PCSK4 semapv:UnspecifiedMatching OMIM:600487 PCSK4 skos:exactMatch ncbigene:54760 semapv:UnspecifiedMatching -OMIM:600488 PCSK5 skos:exactMatch hgnc:PCSK5 semapv:UnspecifiedMatching +OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:8747 semapv:UnspecifiedMatching +OMIM:600488 PCSK5 skos:exactMatch hgnc.symbol:PCSK5 semapv:UnspecifiedMatching OMIM:600488 PCSK5 skos:exactMatch ncbigene:5125 semapv:UnspecifiedMatching OMIM:600489 NFATC1 skos:exactMatch UMLS:C1417694 semapv:UnspecifiedMatching -OMIM:600489 NFATC1 skos:exactMatch hgnc:NFATC1 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:7775 semapv:UnspecifiedMatching +OMIM:600489 NFATC1 skos:exactMatch hgnc.symbol:NFATC1 semapv:UnspecifiedMatching OMIM:600489 NFATC1 skos:exactMatch ncbigene:4772 semapv:UnspecifiedMatching OMIM:600490 NFATC2 skos:exactMatch UMLS:C1417695 semapv:UnspecifiedMatching -OMIM:600490 NFATC2 skos:exactMatch hgnc:NFATC2 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:7776 semapv:UnspecifiedMatching +OMIM:600490 NFATC2 skos:exactMatch hgnc.symbol:NFATC2 semapv:UnspecifiedMatching OMIM:600490 NFATC2 skos:exactMatch ncbigene:4773 semapv:UnspecifiedMatching -OMIM:600491 MFAP3 skos:exactMatch hgnc:MFAP3 semapv:UnspecifiedMatching +OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:7034 semapv:UnspecifiedMatching +OMIM:600491 MFAP3 skos:exactMatch hgnc.symbol:MFAP3 semapv:UnspecifiedMatching OMIM:600491 MFAP3 skos:exactMatch ncbigene:4238 semapv:UnspecifiedMatching -OMIM:600492 NFE2L2 skos:exactMatch hgnc:NFE2L2 semapv:UnspecifiedMatching +OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:7782 semapv:UnspecifiedMatching +OMIM:600492 NFE2L2 skos:exactMatch hgnc.symbol:NFE2L2 semapv:UnspecifiedMatching OMIM:600492 NFE2L2 skos:exactMatch ncbigene:4780 semapv:UnspecifiedMatching -OMIM:600493 ADGRE1 skos:exactMatch hgnc:ADGRE1 semapv:UnspecifiedMatching +OMIM:600493 ADGRE1 skos:exactMatch hgnc.symbol:3336 semapv:UnspecifiedMatching +OMIM:600493 ADGRE1 skos:exactMatch hgnc.symbol:ADGRE1 semapv:UnspecifiedMatching OMIM:600493 ADGRE1 skos:exactMatch ncbigene:2015 semapv:UnspecifiedMatching -OMIM:600494 POU3F2 skos:exactMatch hgnc:POU3F2 semapv:UnspecifiedMatching +OMIM:600494 POU3F2 skos:exactMatch hgnc.symbol:9215 semapv:UnspecifiedMatching +OMIM:600494 POU3F2 skos:exactMatch hgnc.symbol:POU3F2 semapv:UnspecifiedMatching OMIM:600494 POU3F2 skos:exactMatch ncbigene:5454 semapv:UnspecifiedMatching -OMIM:600495 EIF4G1 skos:exactMatch hgnc:EIF4G1 semapv:UnspecifiedMatching +OMIM:600495 EIF4G1 skos:exactMatch hgnc.symbol:3296 semapv:UnspecifiedMatching +OMIM:600495 EIF4G1 skos:exactMatch hgnc.symbol:EIF4G1 semapv:UnspecifiedMatching OMIM:600495 EIF4G1 skos:exactMatch ncbigene:1981 semapv:UnspecifiedMatching -OMIM:600497 PRKAA2 skos:exactMatch hgnc:PRKAA2 semapv:UnspecifiedMatching +OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:9377 semapv:UnspecifiedMatching +OMIM:600497 PRKAA2 skos:exactMatch hgnc.symbol:PRKAA2 semapv:UnspecifiedMatching OMIM:600497 PRKAA2 skos:exactMatch ncbigene:5563 semapv:UnspecifiedMatching -OMIM:600502 IGHMBP2 skos:exactMatch hgnc:IGHMBP2 semapv:UnspecifiedMatching +OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:5542 semapv:UnspecifiedMatching +OMIM:600502 IGHMBP2 skos:exactMatch hgnc.symbol:IGHMBP2 semapv:UnspecifiedMatching OMIM:600502 IGHMBP2 skos:exactMatch ncbigene:3508 semapv:UnspecifiedMatching OMIM:600503 SUB1 skos:exactMatch UMLS:C1709390 semapv:UnspecifiedMatching -OMIM:600503 SUB1 skos:exactMatch hgnc:SUB1 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:19985 semapv:UnspecifiedMatching +OMIM:600503 SUB1 skos:exactMatch hgnc.symbol:SUB1 semapv:UnspecifiedMatching OMIM:600503 SUB1 skos:exactMatch ncbigene:10923 semapv:UnspecifiedMatching -OMIM:600504 KCNJ4 skos:exactMatch hgnc:KCNJ4 semapv:UnspecifiedMatching +OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:6265 semapv:UnspecifiedMatching +OMIM:600504 KCNJ4 skos:exactMatch hgnc.symbol:KCNJ4 semapv:UnspecifiedMatching OMIM:600504 KCNJ4 skos:exactMatch ncbigene:3761 semapv:UnspecifiedMatching -OMIM:600505 CSNK1A1 skos:exactMatch hgnc:CSNK1A1 semapv:UnspecifiedMatching +OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:2451 semapv:UnspecifiedMatching +OMIM:600505 CSNK1A1 skos:exactMatch hgnc.symbol:CSNK1A1 semapv:UnspecifiedMatching OMIM:600505 CSNK1A1 skos:exactMatch ncbigene:1452 semapv:UnspecifiedMatching -OMIM:600508 NCK1 skos:exactMatch hgnc:NCK1 semapv:UnspecifiedMatching +OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:7664 semapv:UnspecifiedMatching +OMIM:600508 NCK1 skos:exactMatch hgnc.symbol:NCK1 semapv:UnspecifiedMatching OMIM:600508 NCK1 skos:exactMatch ncbigene:4690 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C0011860 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C0271714 semapv:UnspecifiedMatching @@ -10322,342 +13828,482 @@ OMIM:600509 ABCC8 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C2931832 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch UMLS:C5394566 semapv:UnspecifiedMatching -OMIM:600509 ABCC8 skos:exactMatch hgnc:ABCC8 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:59 semapv:UnspecifiedMatching +OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:ABCC8 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch ncbigene:6833 semapv:UnspecifiedMatching -OMIM:600514 RELN skos:exactMatch hgnc:RELN semapv:UnspecifiedMatching +OMIM:600514 RELN skos:exactMatch hgnc.symbol:9957 semapv:UnspecifiedMatching +OMIM:600514 RELN skos:exactMatch hgnc.symbol:RELN semapv:UnspecifiedMatching OMIM:600514 RELN skos:exactMatch ncbigene:5649 semapv:UnspecifiedMatching OMIM:600515 P2RY12 skos:exactMatch UMLS:C1425330 semapv:UnspecifiedMatching OMIM:600515 P2RY12 skos:exactMatch UMLS:C1853278 semapv:UnspecifiedMatching -OMIM:600515 P2RY12 skos:exactMatch hgnc:P2RY12 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:18124 semapv:UnspecifiedMatching +OMIM:600515 P2RY12 skos:exactMatch hgnc.symbol:P2RY12 semapv:UnspecifiedMatching OMIM:600515 P2RY12 skos:exactMatch ncbigene:64805 semapv:UnspecifiedMatching -OMIM:600516 BAK1 skos:exactMatch hgnc:BAK1 semapv:UnspecifiedMatching +OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:949 semapv:UnspecifiedMatching +OMIM:600516 BAK1 skos:exactMatch hgnc.symbol:BAK1 semapv:UnspecifiedMatching OMIM:600516 BAK1 skos:exactMatch ncbigene:578 semapv:UnspecifiedMatching -OMIM:600517 SERPINB3 skos:exactMatch hgnc:SERPINB3 semapv:UnspecifiedMatching +OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:10569 semapv:UnspecifiedMatching +OMIM:600517 SERPINB3 skos:exactMatch hgnc.symbol:SERPINB3 semapv:UnspecifiedMatching OMIM:600517 SERPINB3 skos:exactMatch ncbigene:6317 semapv:UnspecifiedMatching -OMIM:600518 SERPINB4 skos:exactMatch hgnc:SERPINB4 semapv:UnspecifiedMatching +OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:10570 semapv:UnspecifiedMatching +OMIM:600518 SERPINB4 skos:exactMatch hgnc.symbol:SERPINB4 semapv:UnspecifiedMatching OMIM:600518 SERPINB4 skos:exactMatch ncbigene:6318 semapv:UnspecifiedMatching -OMIM:600519 GTF2A2 skos:exactMatch hgnc:GTF2A2 semapv:UnspecifiedMatching +OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:4647 semapv:UnspecifiedMatching +OMIM:600519 GTF2A2 skos:exactMatch hgnc.symbol:GTF2A2 semapv:UnspecifiedMatching OMIM:600519 GTF2A2 skos:exactMatch ncbigene:2958 semapv:UnspecifiedMatching -OMIM:600520 GTF2A1 skos:exactMatch hgnc:GTF2A1 semapv:UnspecifiedMatching +OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:4646 semapv:UnspecifiedMatching +OMIM:600520 GTF2A1 skos:exactMatch hgnc.symbol:GTF2A1 semapv:UnspecifiedMatching OMIM:600520 GTF2A1 skos:exactMatch ncbigene:2957 semapv:UnspecifiedMatching -OMIM:600521 MASP1 skos:exactMatch hgnc:MASP1 semapv:UnspecifiedMatching +OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:6901 semapv:UnspecifiedMatching +OMIM:600521 MASP1 skos:exactMatch hgnc.symbol:MASP1 semapv:UnspecifiedMatching OMIM:600521 MASP1 skos:exactMatch ncbigene:5648 semapv:UnspecifiedMatching -OMIM:600522 PLA2G4A skos:exactMatch hgnc:PLA2G4A semapv:UnspecifiedMatching +OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:9035 semapv:UnspecifiedMatching +OMIM:600522 PLA2G4A skos:exactMatch hgnc.symbol:PLA2G4A semapv:UnspecifiedMatching OMIM:600522 PLA2G4A skos:exactMatch ncbigene:5321 semapv:UnspecifiedMatching -OMIM:600523 SLC11A2 skos:exactMatch hgnc:SLC11A2 semapv:UnspecifiedMatching +OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:10908 semapv:UnspecifiedMatching +OMIM:600523 SLC11A2 skos:exactMatch hgnc.symbol:SLC11A2 semapv:UnspecifiedMatching OMIM:600523 SLC11A2 skos:exactMatch ncbigene:4891 semapv:UnspecifiedMatching -OMIM:600524 RYK skos:exactMatch hgnc:RYK semapv:UnspecifiedMatching +OMIM:600524 RYK skos:exactMatch hgnc.symbol:10481 semapv:UnspecifiedMatching +OMIM:600524 RYK skos:exactMatch hgnc.symbol:RYK semapv:UnspecifiedMatching OMIM:600524 RYK skos:exactMatch ncbigene:6259 semapv:UnspecifiedMatching -OMIM:600525 DLX3 skos:exactMatch hgnc:DLX3 semapv:UnspecifiedMatching +OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:2916 semapv:UnspecifiedMatching +OMIM:600525 DLX3 skos:exactMatch hgnc.symbol:DLX3 semapv:UnspecifiedMatching OMIM:600525 DLX3 skos:exactMatch ncbigene:1747 semapv:UnspecifiedMatching -OMIM:600526 MARK2 skos:exactMatch hgnc:MARK2 semapv:UnspecifiedMatching +OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:3332 semapv:UnspecifiedMatching +OMIM:600526 MARK2 skos:exactMatch hgnc.symbol:MARK2 semapv:UnspecifiedMatching OMIM:600526 MARK2 skos:exactMatch ncbigene:2011 semapv:UnspecifiedMatching -OMIM:600527 EFNB2 skos:exactMatch hgnc:EFNB2 semapv:UnspecifiedMatching +OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:3227 semapv:UnspecifiedMatching +OMIM:600527 EFNB2 skos:exactMatch hgnc.symbol:EFNB2 semapv:UnspecifiedMatching OMIM:600527 EFNB2 skos:exactMatch ncbigene:1948 semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch UMLS:C1413688 semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch UMLS:C1829703 semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch UMLS:C4749072 semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch UMLS:C4749136 semapv:UnspecifiedMatching -OMIM:600528 CPT1A skos:exactMatch hgnc:CPT1A semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:2328 semapv:UnspecifiedMatching +OMIM:600528 CPT1A skos:exactMatch hgnc.symbol:CPT1A semapv:UnspecifiedMatching OMIM:600528 CPT1A skos:exactMatch ncbigene:1374 semapv:UnspecifiedMatching OMIM:600529 AUH skos:exactMatch UMLS:C0342727 semapv:UnspecifiedMatching OMIM:600529 AUH skos:exactMatch UMLS:C1332121 semapv:UnspecifiedMatching -OMIM:600529 AUH skos:exactMatch hgnc:AUH semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch hgnc.symbol:890 semapv:UnspecifiedMatching +OMIM:600529 AUH skos:exactMatch hgnc.symbol:AUH semapv:UnspecifiedMatching OMIM:600529 AUH skos:exactMatch ncbigene:549 semapv:UnspecifiedMatching -OMIM:600530 SLC9A2 skos:exactMatch hgnc:SLC9A2 semapv:UnspecifiedMatching +OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:11072 semapv:UnspecifiedMatching +OMIM:600530 SLC9A2 skos:exactMatch hgnc.symbol:SLC9A2 semapv:UnspecifiedMatching OMIM:600530 SLC9A2 skos:exactMatch ncbigene:6549 semapv:UnspecifiedMatching -OMIM:600531 SLC9A4 skos:exactMatch hgnc:SLC9A4 semapv:UnspecifiedMatching +OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:11077 semapv:UnspecifiedMatching +OMIM:600531 SLC9A4 skos:exactMatch hgnc.symbol:SLC9A4 semapv:UnspecifiedMatching OMIM:600531 SLC9A4 skos:exactMatch ncbigene:389015 semapv:UnspecifiedMatching -OMIM:600532 NDUFV2 skos:exactMatch hgnc:NDUFV2 semapv:UnspecifiedMatching +OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:7717 semapv:UnspecifiedMatching +OMIM:600532 NDUFV2 skos:exactMatch hgnc.symbol:NDUFV2 semapv:UnspecifiedMatching OMIM:600532 NDUFV2 skos:exactMatch ncbigene:4729 semapv:UnspecifiedMatching -OMIM:600533 VANGL2 skos:exactMatch hgnc:VANGL2 semapv:UnspecifiedMatching +OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:15511 semapv:UnspecifiedMatching +OMIM:600533 VANGL2 skos:exactMatch hgnc.symbol:VANGL2 semapv:UnspecifiedMatching OMIM:600533 VANGL2 skos:exactMatch ncbigene:57216 semapv:UnspecifiedMatching -OMIM:600534 BST2 skos:exactMatch hgnc:BST2 semapv:UnspecifiedMatching +OMIM:600534 BST2 skos:exactMatch hgnc.symbol:1119 semapv:UnspecifiedMatching +OMIM:600534 BST2 skos:exactMatch hgnc.symbol:BST2 semapv:UnspecifiedMatching OMIM:600534 BST2 skos:exactMatch ncbigene:684 semapv:UnspecifiedMatching -OMIM:600535 MEOX2 skos:exactMatch hgnc:MEOX2 semapv:UnspecifiedMatching +OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:7014 semapv:UnspecifiedMatching +OMIM:600535 MEOX2 skos:exactMatch hgnc.symbol:MEOX2 semapv:UnspecifiedMatching OMIM:600535 MEOX2 skos:exactMatch ncbigene:4223 semapv:UnspecifiedMatching -OMIM:600536 ITGA7 skos:exactMatch hgnc:ITGA7 semapv:UnspecifiedMatching +OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:6143 semapv:UnspecifiedMatching +OMIM:600536 ITGA7 skos:exactMatch hgnc.symbol:ITGA7 semapv:UnspecifiedMatching OMIM:600536 ITGA7 skos:exactMatch ncbigene:3679 semapv:UnspecifiedMatching -OMIM:600537 RECQL skos:exactMatch hgnc:RECQL semapv:UnspecifiedMatching +OMIM:600537 RECQL skos:exactMatch hgnc.symbol:9948 semapv:UnspecifiedMatching +OMIM:600537 RECQL skos:exactMatch hgnc.symbol:RECQL semapv:UnspecifiedMatching OMIM:600537 RECQL skos:exactMatch ncbigene:5965 semapv:UnspecifiedMatching -OMIM:600538 PRDX2 skos:exactMatch hgnc:PRDX2 semapv:UnspecifiedMatching +OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:9353 semapv:UnspecifiedMatching +OMIM:600538 PRDX2 skos:exactMatch hgnc.symbol:PRDX2 semapv:UnspecifiedMatching OMIM:600538 PRDX2 skos:exactMatch ncbigene:7001 semapv:UnspecifiedMatching -OMIM:600539 PRKCI skos:exactMatch hgnc:PRKCI semapv:UnspecifiedMatching +OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:9404 semapv:UnspecifiedMatching +OMIM:600539 PRKCI skos:exactMatch hgnc.symbol:PRKCI semapv:UnspecifiedMatching OMIM:600539 PRKCI skos:exactMatch ncbigene:5584 semapv:UnspecifiedMatching -OMIM:600540 SP4 skos:exactMatch hgnc:SP4 semapv:UnspecifiedMatching +OMIM:600540 SP4 skos:exactMatch hgnc.symbol:11209 semapv:UnspecifiedMatching +OMIM:600540 SP4 skos:exactMatch hgnc.symbol:SP4 semapv:UnspecifiedMatching OMIM:600540 SP4 skos:exactMatch ncbigene:6671 semapv:UnspecifiedMatching -OMIM:600541 ETV1 skos:exactMatch hgnc:ETV1 semapv:UnspecifiedMatching +OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:3490 semapv:UnspecifiedMatching +OMIM:600541 ETV1 skos:exactMatch hgnc.symbol:ETV1 semapv:UnspecifiedMatching OMIM:600541 ETV1 skos:exactMatch ncbigene:2115 semapv:UnspecifiedMatching -OMIM:600542 NR4A3 skos:exactMatch hgnc:NR4A3 semapv:UnspecifiedMatching +OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:7982 semapv:UnspecifiedMatching +OMIM:600542 NR4A3 skos:exactMatch hgnc.symbol:NR4A3 semapv:UnspecifiedMatching OMIM:600542 NR4A3 skos:exactMatch ncbigene:8013 semapv:UnspecifiedMatching -OMIM:600543 ERBB4 skos:exactMatch hgnc:ERBB4 semapv:UnspecifiedMatching +OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:3432 semapv:UnspecifiedMatching +OMIM:600543 ERBB4 skos:exactMatch hgnc.symbol:ERBB4 semapv:UnspecifiedMatching OMIM:600543 ERBB4 skos:exactMatch ncbigene:2066 semapv:UnspecifiedMatching -OMIM:600544 SLC15A1 skos:exactMatch hgnc:SLC15A1 semapv:UnspecifiedMatching +OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:10920 semapv:UnspecifiedMatching +OMIM:600544 SLC15A1 skos:exactMatch hgnc.symbol:SLC15A1 semapv:UnspecifiedMatching OMIM:600544 SLC15A1 skos:exactMatch ncbigene:6564 semapv:UnspecifiedMatching -OMIM:600547 CCBL1 skos:exactMatch hgnc:KYAT1 semapv:UnspecifiedMatching +OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:1564 semapv:UnspecifiedMatching +OMIM:600547 CCBL1 skos:exactMatch hgnc.symbol:KYAT1 semapv:UnspecifiedMatching OMIM:600547 CCBL1 skos:exactMatch ncbigene:883 semapv:UnspecifiedMatching -OMIM:600548 HSPA9 skos:exactMatch hgnc:HSPA9 semapv:UnspecifiedMatching +OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:5244 semapv:UnspecifiedMatching +OMIM:600548 HSPA9 skos:exactMatch hgnc.symbol:HSPA9 semapv:UnspecifiedMatching OMIM:600548 HSPA9 skos:exactMatch ncbigene:3313 semapv:UnspecifiedMatching -OMIM:600549 IK skos:exactMatch hgnc:IK semapv:UnspecifiedMatching +OMIM:600549 IK skos:exactMatch hgnc.symbol:5958 semapv:UnspecifiedMatching +OMIM:600549 IK skos:exactMatch hgnc.symbol:IK semapv:UnspecifiedMatching OMIM:600549 IK skos:exactMatch ncbigene:3550 semapv:UnspecifiedMatching -OMIM:600550 CTSO skos:exactMatch hgnc:CTSO semapv:UnspecifiedMatching +OMIM:600550 CTSO skos:exactMatch hgnc.symbol:2542 semapv:UnspecifiedMatching +OMIM:600550 CTSO skos:exactMatch hgnc.symbol:CTSO semapv:UnspecifiedMatching OMIM:600550 CTSO skos:exactMatch ncbigene:1519 semapv:UnspecifiedMatching -OMIM:600551 GPR4 skos:exactMatch hgnc:GPR4 semapv:UnspecifiedMatching +OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:4497 semapv:UnspecifiedMatching +OMIM:600551 GPR4 skos:exactMatch hgnc.symbol:GPR4 semapv:UnspecifiedMatching OMIM:600551 GPR4 skos:exactMatch ncbigene:2828 semapv:UnspecifiedMatching -OMIM:600552 XCR1 skos:exactMatch hgnc:XCR1 semapv:UnspecifiedMatching +OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:1625 semapv:UnspecifiedMatching +OMIM:600552 XCR1 skos:exactMatch hgnc.symbol:XCR1 semapv:UnspecifiedMatching OMIM:600552 XCR1 skos:exactMatch ncbigene:2829 semapv:UnspecifiedMatching -OMIM:600553 GPR6 skos:exactMatch hgnc:GPR6 semapv:UnspecifiedMatching +OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:4515 semapv:UnspecifiedMatching +OMIM:600553 GPR6 skos:exactMatch hgnc.symbol:GPR6 semapv:UnspecifiedMatching OMIM:600553 GPR6 skos:exactMatch ncbigene:2830 semapv:UnspecifiedMatching OMIM:600554 IL15 skos:exactMatch UMLS:C1334105 semapv:UnspecifiedMatching -OMIM:600554 IL15 skos:exactMatch hgnc:IL15 semapv:UnspecifiedMatching +OMIM:600554 IL15 skos:exactMatch hgnc.symbol:5977 semapv:UnspecifiedMatching +OMIM:600554 IL15 skos:exactMatch hgnc.symbol:IL15 semapv:UnspecifiedMatching OMIM:600554 IL15 skos:exactMatch ncbigene:3600 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch UMLS:C1335872 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch UMLS:C3151088 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch UMLS:C4013950 semapv:UnspecifiedMatching -OMIM:600555 STAT1 skos:exactMatch hgnc:STAT1 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:11362 semapv:UnspecifiedMatching +OMIM:600555 STAT1 skos:exactMatch hgnc.symbol:STAT1 semapv:UnspecifiedMatching OMIM:600555 STAT1 skos:exactMatch ncbigene:6772 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch UMLS:C1335873 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch UMLS:C4225260 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching -OMIM:600556 STAT2 skos:exactMatch hgnc:STAT2 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:11363 semapv:UnspecifiedMatching +OMIM:600556 STAT2 skos:exactMatch hgnc.symbol:STAT2 semapv:UnspecifiedMatching OMIM:600556 STAT2 skos:exactMatch ncbigene:6773 semapv:UnspecifiedMatching -OMIM:600558 STAT4 skos:exactMatch hgnc:STAT4 semapv:UnspecifiedMatching +OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:11365 semapv:UnspecifiedMatching +OMIM:600558 STAT4 skos:exactMatch hgnc.symbol:STAT4 semapv:UnspecifiedMatching OMIM:600558 STAT4 skos:exactMatch ncbigene:6775 semapv:UnspecifiedMatching -OMIM:600560 SHC1 skos:exactMatch hgnc:SHC1 semapv:UnspecifiedMatching +OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:10840 semapv:UnspecifiedMatching +OMIM:600560 SHC1 skos:exactMatch hgnc.symbol:SHC1 semapv:UnspecifiedMatching OMIM:600560 SHC1 skos:exactMatch ncbigene:6464 semapv:UnspecifiedMatching -OMIM:600562 CDH12 skos:exactMatch hgnc:CDH12 semapv:UnspecifiedMatching +OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:1751 semapv:UnspecifiedMatching +OMIM:600562 CDH12 skos:exactMatch hgnc.symbol:CDH12 semapv:UnspecifiedMatching OMIM:600562 CDH12 skos:exactMatch ncbigene:1010 semapv:UnspecifiedMatching -OMIM:600563 PTGFR skos:exactMatch hgnc:PTGFR semapv:UnspecifiedMatching +OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:9600 semapv:UnspecifiedMatching +OMIM:600563 PTGFR skos:exactMatch hgnc.symbol:PTGFR semapv:UnspecifiedMatching OMIM:600563 PTGFR skos:exactMatch ncbigene:5737 semapv:UnspecifiedMatching -OMIM:600564 ITIH4 skos:exactMatch hgnc:ITIH4 semapv:UnspecifiedMatching +OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:6169 semapv:UnspecifiedMatching +OMIM:600564 ITIH4 skos:exactMatch hgnc.symbol:ITIH4 semapv:UnspecifiedMatching OMIM:600564 ITIH4 skos:exactMatch ncbigene:3700 semapv:UnspecifiedMatching -OMIM:600565 NRXN1 skos:exactMatch hgnc:NRXN1 semapv:UnspecifiedMatching +OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:8008 semapv:UnspecifiedMatching +OMIM:600565 NRXN1 skos:exactMatch hgnc.symbol:NRXN1 semapv:UnspecifiedMatching OMIM:600565 NRXN1 skos:exactMatch ncbigene:9378 semapv:UnspecifiedMatching -OMIM:600566 NRXN2 skos:exactMatch hgnc:NRXN2 semapv:UnspecifiedMatching +OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:8009 semapv:UnspecifiedMatching +OMIM:600566 NRXN2 skos:exactMatch hgnc.symbol:NRXN2 semapv:UnspecifiedMatching OMIM:600566 NRXN2 skos:exactMatch ncbigene:9379 semapv:UnspecifiedMatching OMIM:600567 NRXN3 skos:exactMatch UMLS:C1417853 semapv:UnspecifiedMatching -OMIM:600567 NRXN3 skos:exactMatch hgnc:NRXN3 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:8010 semapv:UnspecifiedMatching +OMIM:600567 NRXN3 skos:exactMatch hgnc.symbol:NRXN3 semapv:UnspecifiedMatching OMIM:600567 NRXN3 skos:exactMatch ncbigene:9369 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch UMLS:C1422548 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching -OMIM:600568 NLGN1 skos:exactMatch hgnc:NLGN1 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:14291 semapv:UnspecifiedMatching +OMIM:600568 NLGN1 skos:exactMatch hgnc.symbol:NLGN1 semapv:UnspecifiedMatching OMIM:600568 NLGN1 skos:exactMatch ncbigene:22871 semapv:UnspecifiedMatching -OMIM:600570 CLCN2 skos:exactMatch hgnc:CLCN2 semapv:UnspecifiedMatching +OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:2020 semapv:UnspecifiedMatching +OMIM:600570 CLCN2 skos:exactMatch hgnc.symbol:CLCN2 semapv:UnspecifiedMatching OMIM:600570 CLCN2 skos:exactMatch ncbigene:1181 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C1419346 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C3887929 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C4225584 semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch UMLS:C4539942 semapv:UnspecifiedMatching -OMIM:600571 REST skos:exactMatch hgnc:REST semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch hgnc.symbol:9966 semapv:UnspecifiedMatching +OMIM:600571 REST skos:exactMatch hgnc.symbol:REST semapv:UnspecifiedMatching OMIM:600571 REST skos:exactMatch ncbigene:5978 semapv:UnspecifiedMatching -OMIM:600572 SRSF7 skos:exactMatch hgnc:SRSF7 semapv:UnspecifiedMatching +OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:10789 semapv:UnspecifiedMatching +OMIM:600572 SRSF7 skos:exactMatch hgnc.symbol:SRSF7 semapv:UnspecifiedMatching OMIM:600572 SRSF7 skos:exactMatch ncbigene:6432 semapv:UnspecifiedMatching -OMIM:600573 TAF7 skos:exactMatch hgnc:TAF7 semapv:UnspecifiedMatching +OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:11541 semapv:UnspecifiedMatching +OMIM:600573 TAF7 skos:exactMatch hgnc.symbol:TAF7 semapv:UnspecifiedMatching OMIM:600573 TAF7 skos:exactMatch ncbigene:6879 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C1416947 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C1854469 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C3810283 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch UMLS:C4225280 semapv:UnspecifiedMatching -OMIM:600574 LZTR1 skos:exactMatch hgnc:LZTR1 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:6742 semapv:UnspecifiedMatching +OMIM:600574 LZTR1 skos:exactMatch hgnc.symbol:LZTR1 semapv:UnspecifiedMatching OMIM:600574 LZTR1 skos:exactMatch ncbigene:8216 semapv:UnspecifiedMatching -OMIM:600575 TSN skos:exactMatch hgnc:TSN semapv:UnspecifiedMatching +OMIM:600575 TSN skos:exactMatch hgnc.symbol:12379 semapv:UnspecifiedMatching +OMIM:600575 TSN skos:exactMatch hgnc.symbol:TSN semapv:UnspecifiedMatching OMIM:600575 TSN skos:exactMatch ncbigene:7247 semapv:UnspecifiedMatching -OMIM:600576 GATA4 skos:exactMatch hgnc:GATA4 semapv:UnspecifiedMatching +OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:4173 semapv:UnspecifiedMatching +OMIM:600576 GATA4 skos:exactMatch hgnc.symbol:GATA4 semapv:UnspecifiedMatching OMIM:600576 GATA4 skos:exactMatch ncbigene:2626 semapv:UnspecifiedMatching -OMIM:600577 LHX3 skos:exactMatch hgnc:LHX3 semapv:UnspecifiedMatching +OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:6595 semapv:UnspecifiedMatching +OMIM:600577 LHX3 skos:exactMatch hgnc.symbol:LHX3 semapv:UnspecifiedMatching OMIM:600577 LHX3 skos:exactMatch ncbigene:8022 semapv:UnspecifiedMatching -OMIM:600578 OR2H3 skos:exactMatch hgnc:OR2H2 semapv:UnspecifiedMatching +OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:8253 semapv:UnspecifiedMatching +OMIM:600578 OR2H3 skos:exactMatch hgnc.symbol:OR2H2 semapv:UnspecifiedMatching OMIM:600578 OR2H3 skos:exactMatch ncbigene:7932 semapv:UnspecifiedMatching -OMIM:600579 PTPRO skos:exactMatch hgnc:PTPRO semapv:UnspecifiedMatching +OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:9678 semapv:UnspecifiedMatching +OMIM:600579 PTPRO skos:exactMatch hgnc.symbol:PTPRO semapv:UnspecifiedMatching OMIM:600579 PTPRO skos:exactMatch ncbigene:5800 semapv:UnspecifiedMatching -OMIM:600580 CLCN3 skos:exactMatch hgnc:CLCN3 semapv:UnspecifiedMatching +OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:2021 semapv:UnspecifiedMatching +OMIM:600580 CLCN3 skos:exactMatch hgnc.symbol:CLCN3 semapv:UnspecifiedMatching OMIM:600580 CLCN3 skos:exactMatch ncbigene:1182 semapv:UnspecifiedMatching -OMIM:600581 ID4 skos:exactMatch hgnc:ID4 semapv:UnspecifiedMatching +OMIM:600581 ID4 skos:exactMatch hgnc.symbol:5363 semapv:UnspecifiedMatching +OMIM:600581 ID4 skos:exactMatch hgnc.symbol:ID4 semapv:UnspecifiedMatching OMIM:600581 ID4 skos:exactMatch ncbigene:3400 semapv:UnspecifiedMatching -OMIM:600582 ASPH skos:exactMatch hgnc:ASPH semapv:UnspecifiedMatching +OMIM:600582 ASPH skos:exactMatch hgnc.symbol:757 semapv:UnspecifiedMatching +OMIM:600582 ASPH skos:exactMatch hgnc.symbol:ASPH semapv:UnspecifiedMatching OMIM:600582 ASPH skos:exactMatch ncbigene:444 semapv:UnspecifiedMatching -OMIM:600583 TEC skos:exactMatch hgnc:TEC semapv:UnspecifiedMatching +OMIM:600583 TEC skos:exactMatch hgnc.symbol:11719 semapv:UnspecifiedMatching +OMIM:600583 TEC skos:exactMatch hgnc.symbol:TEC semapv:UnspecifiedMatching OMIM:600583 TEC skos:exactMatch ncbigene:7006 semapv:UnspecifiedMatching -OMIM:600584 NKX2-5 skos:exactMatch hgnc:NKX2-5 semapv:UnspecifiedMatching +OMIM:600584 NKX2-5 skos:exactMatch hgnc.symbol:2488 semapv:UnspecifiedMatching +OMIM:600584 NKX2-5 skos:exactMatch hgnc.symbol:NKX2-5 semapv:UnspecifiedMatching OMIM:600584 NKX2-5 skos:exactMatch ncbigene:1482 semapv:UnspecifiedMatching -OMIM:600585 TGM4 skos:exactMatch hgnc:TGM4 semapv:UnspecifiedMatching +OMIM:600585 TGM4 skos:exactMatch hgnc.symbol:11780 semapv:UnspecifiedMatching +OMIM:600585 TGM4 skos:exactMatch hgnc.symbol:TGM4 semapv:UnspecifiedMatching OMIM:600585 TGM4 skos:exactMatch ncbigene:7047 semapv:UnspecifiedMatching -OMIM:600586 ECT2 skos:exactMatch hgnc:ECT2 semapv:UnspecifiedMatching +OMIM:600586 ECT2 skos:exactMatch hgnc.symbol:3155 semapv:UnspecifiedMatching +OMIM:600586 ECT2 skos:exactMatch hgnc.symbol:ECT2 semapv:UnspecifiedMatching OMIM:600586 ECT2 skos:exactMatch ncbigene:1894 semapv:UnspecifiedMatching -OMIM:600587 POMZP3 skos:exactMatch hgnc:POMZP3 semapv:UnspecifiedMatching +OMIM:600587 POMZP3 skos:exactMatch hgnc.symbol:9203 semapv:UnspecifiedMatching +OMIM:600587 POMZP3 skos:exactMatch hgnc.symbol:POMZP3 semapv:UnspecifiedMatching OMIM:600587 POMZP3 skos:exactMatch ncbigene:22932 semapv:UnspecifiedMatching -OMIM:600589 SRF skos:exactMatch hgnc:SRF semapv:UnspecifiedMatching +OMIM:600589 SRF skos:exactMatch hgnc.symbol:11291 semapv:UnspecifiedMatching +OMIM:600589 SRF skos:exactMatch hgnc.symbol:SRF semapv:UnspecifiedMatching OMIM:600589 SRF skos:exactMatch ncbigene:6722 semapv:UnspecifiedMatching -OMIM:600590 PPP1CB skos:exactMatch hgnc:PPP1CB semapv:UnspecifiedMatching +OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:9282 semapv:UnspecifiedMatching +OMIM:600590 PPP1CB skos:exactMatch hgnc.symbol:PPP1CB semapv:UnspecifiedMatching OMIM:600590 PPP1CB skos:exactMatch ncbigene:5500 semapv:UnspecifiedMatching -OMIM:600591 SNAPC1 skos:exactMatch hgnc:SNAPC1 semapv:UnspecifiedMatching +OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:11134 semapv:UnspecifiedMatching +OMIM:600591 SNAPC1 skos:exactMatch hgnc.symbol:SNAPC1 semapv:UnspecifiedMatching OMIM:600591 SNAPC1 skos:exactMatch ncbigene:6617 semapv:UnspecifiedMatching OMIM:600592 MCM7 skos:exactMatch UMLS:C1334494 semapv:UnspecifiedMatching -OMIM:600592 MCM7 skos:exactMatch hgnc:MCM7 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:6950 semapv:UnspecifiedMatching +OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:MCM7 semapv:UnspecifiedMatching OMIM:600592 MCM7 skos:exactMatch ncbigene:4176 semapv:UnspecifiedMatching -OMIM:600594 DGCR2 skos:exactMatch hgnc:DGCR2 semapv:UnspecifiedMatching +OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:2845 semapv:UnspecifiedMatching +OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:DGCR2 semapv:UnspecifiedMatching OMIM:600594 DGCR2 skos:exactMatch ncbigene:9993 semapv:UnspecifiedMatching -OMIM:600595 IFT88 skos:exactMatch hgnc:IFT88 semapv:UnspecifiedMatching +OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:20606 semapv:UnspecifiedMatching +OMIM:600595 IFT88 skos:exactMatch hgnc.symbol:IFT88 semapv:UnspecifiedMatching OMIM:600595 IFT88 skos:exactMatch ncbigene:8100 semapv:UnspecifiedMatching -OMIM:600596 MFAP4 skos:exactMatch hgnc:MFAP4 semapv:UnspecifiedMatching +OMIM:600596 MFAP4 skos:exactMatch hgnc.symbol:7035 semapv:UnspecifiedMatching +OMIM:600596 MFAP4 skos:exactMatch hgnc.symbol:MFAP4 semapv:UnspecifiedMatching OMIM:600596 MFAP4 skos:exactMatch ncbigene:4239 semapv:UnspecifiedMatching -OMIM:600597 PLCL1 skos:exactMatch hgnc:PLCL1 semapv:UnspecifiedMatching +OMIM:600597 PLCL1 skos:exactMatch hgnc.symbol:9063 semapv:UnspecifiedMatching +OMIM:600597 PLCL1 skos:exactMatch hgnc.symbol:PLCL1 semapv:UnspecifiedMatching OMIM:600597 PLCL1 skos:exactMatch ncbigene:5334 semapv:UnspecifiedMatching -OMIM:600599 KLF1 skos:exactMatch hgnc:KLF1 semapv:UnspecifiedMatching +OMIM:600599 KLF1 skos:exactMatch hgnc.symbol:6345 semapv:UnspecifiedMatching +OMIM:600599 KLF1 skos:exactMatch hgnc.symbol:KLF1 semapv:UnspecifiedMatching OMIM:600599 KLF1 skos:exactMatch ncbigene:10661 semapv:UnspecifiedMatching -OMIM:600600 EPHB1 skos:exactMatch hgnc:EPHB1 semapv:UnspecifiedMatching +OMIM:600600 EPHB1 skos:exactMatch hgnc.symbol:3392 semapv:UnspecifiedMatching +OMIM:600600 EPHB1 skos:exactMatch hgnc.symbol:EPHB1 semapv:UnspecifiedMatching OMIM:600600 EPHB1 skos:exactMatch ncbigene:2047 semapv:UnspecifiedMatching -OMIM:600605 MTX1 skos:exactMatch hgnc:MTX1 semapv:UnspecifiedMatching +OMIM:600605 MTX1 skos:exactMatch hgnc.symbol:7504 semapv:UnspecifiedMatching +OMIM:600605 MTX1 skos:exactMatch hgnc.symbol:MTX1 semapv:UnspecifiedMatching OMIM:600605 MTX1 skos:exactMatch ncbigene:4580 semapv:UnspecifiedMatching -OMIM:600607 VPS72 skos:exactMatch hgnc:VPS72 semapv:UnspecifiedMatching +OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:11644 semapv:UnspecifiedMatching +OMIM:600607 VPS72 skos:exactMatch hgnc.symbol:VPS72 semapv:UnspecifiedMatching OMIM:600607 VPS72 skos:exactMatch ncbigene:6944 semapv:UnspecifiedMatching -OMIM:600608 P4HA2 skos:exactMatch hgnc:P4HA2 semapv:UnspecifiedMatching +OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:8547 semapv:UnspecifiedMatching +OMIM:600608 P4HA2 skos:exactMatch hgnc.symbol:P4HA2 semapv:UnspecifiedMatching OMIM:600608 P4HA2 skos:exactMatch ncbigene:8974 semapv:UnspecifiedMatching -OMIM:600609 GABPA skos:exactMatch hgnc:GABPA semapv:UnspecifiedMatching +OMIM:600609 GABPA skos:exactMatch hgnc.symbol:4071 semapv:UnspecifiedMatching +OMIM:600609 GABPA skos:exactMatch hgnc.symbol:GABPA semapv:UnspecifiedMatching OMIM:600609 GABPA skos:exactMatch ncbigene:2551 semapv:UnspecifiedMatching -OMIM:600610 GABPB skos:exactMatch hgnc:GABPB1 semapv:UnspecifiedMatching +OMIM:600610 GABPB skos:exactMatch hgnc.symbol:4074 semapv:UnspecifiedMatching +OMIM:600610 GABPB skos:exactMatch hgnc.symbol:GABPB1 semapv:UnspecifiedMatching OMIM:600610 GABPB skos:exactMatch ncbigene:2553 semapv:UnspecifiedMatching -OMIM:600611 FKBP4 skos:exactMatch hgnc:FKBP4 semapv:UnspecifiedMatching +OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:3720 semapv:UnspecifiedMatching +OMIM:600611 FKBP4 skos:exactMatch hgnc.symbol:FKBP4 semapv:UnspecifiedMatching OMIM:600611 FKBP4 skos:exactMatch ncbigene:2288 semapv:UnspecifiedMatching -OMIM:600613 NBL1 skos:exactMatch hgnc:NBL1 semapv:UnspecifiedMatching +OMIM:600613 NBL1 skos:exactMatch hgnc.symbol:7650 semapv:UnspecifiedMatching +OMIM:600613 NBL1 skos:exactMatch hgnc.symbol:NBL1 semapv:UnspecifiedMatching OMIM:600613 NBL1 skos:exactMatch ncbigene:4681 semapv:UnspecifiedMatching -OMIM:600614 S100P skos:exactMatch hgnc:S100P semapv:UnspecifiedMatching +OMIM:600614 S100P skos:exactMatch hgnc.symbol:10504 semapv:UnspecifiedMatching +OMIM:600614 S100P skos:exactMatch hgnc.symbol:S100P semapv:UnspecifiedMatching OMIM:600614 S100P skos:exactMatch ncbigene:6286 semapv:UnspecifiedMatching -OMIM:600615 LGALS7 skos:exactMatch hgnc:LGALS7 semapv:UnspecifiedMatching +OMIM:600615 LGALS7 skos:exactMatch hgnc.symbol:6568 semapv:UnspecifiedMatching +OMIM:600615 LGALS7 skos:exactMatch hgnc.symbol:LGALS7 semapv:UnspecifiedMatching OMIM:600615 LGALS7 skos:exactMatch ncbigene:3963 semapv:UnspecifiedMatching -OMIM:600616 LUM skos:exactMatch hgnc:LUM semapv:UnspecifiedMatching +OMIM:600616 LUM skos:exactMatch hgnc.symbol:6724 semapv:UnspecifiedMatching +OMIM:600616 LUM skos:exactMatch hgnc.symbol:LUM semapv:UnspecifiedMatching OMIM:600616 LUM skos:exactMatch ncbigene:4060 semapv:UnspecifiedMatching -OMIM:600617 STAR skos:exactMatch hgnc:STAR semapv:UnspecifiedMatching +OMIM:600617 STAR skos:exactMatch hgnc.symbol:11359 semapv:UnspecifiedMatching +OMIM:600617 STAR skos:exactMatch hgnc.symbol:STAR semapv:UnspecifiedMatching OMIM:600617 STAR skos:exactMatch ncbigene:6770 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch UMLS:C0796520 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch UMLS:C4015537 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching -OMIM:600618 ETV6 skos:exactMatch hgnc:ETV6 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:3495 semapv:UnspecifiedMatching +OMIM:600618 ETV6 skos:exactMatch hgnc.symbol:ETV6 semapv:UnspecifiedMatching OMIM:600618 ETV6 skos:exactMatch ncbigene:2120 semapv:UnspecifiedMatching OMIM:600620 FKBP1B skos:exactMatch UMLS:C1414619 semapv:UnspecifiedMatching -OMIM:600620 FKBP1B skos:exactMatch hgnc:FKBP1B semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:3712 semapv:UnspecifiedMatching +OMIM:600620 FKBP1B skos:exactMatch hgnc.symbol:FKBP1B semapv:UnspecifiedMatching OMIM:600620 FKBP1B skos:exactMatch ncbigene:2281 semapv:UnspecifiedMatching -OMIM:600621 STMN2 skos:exactMatch hgnc:STMN2 semapv:UnspecifiedMatching +OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:10577 semapv:UnspecifiedMatching +OMIM:600621 STMN2 skos:exactMatch hgnc.symbol:STMN2 semapv:UnspecifiedMatching OMIM:600621 STMN2 skos:exactMatch ncbigene:11075 semapv:UnspecifiedMatching -OMIM:600623 CD82 skos:exactMatch hgnc:CD82 semapv:UnspecifiedMatching +OMIM:600623 CD82 skos:exactMatch hgnc.symbol:6210 semapv:UnspecifiedMatching +OMIM:600623 CD82 skos:exactMatch hgnc.symbol:CD82 semapv:UnspecifiedMatching OMIM:600623 CD82 skos:exactMatch ncbigene:3732 semapv:UnspecifiedMatching +OMIM:600625 orofacial cleft 11 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C1833563 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C2677434 semapv:UnspecifiedMatching -OMIM:600625 orofacial cleft 11 skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching -OMIM:600626 LGALS3BP skos:exactMatch hgnc:LGALS3BP semapv:UnspecifiedMatching +OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:6564 semapv:UnspecifiedMatching +OMIM:600626 LGALS3BP skos:exactMatch hgnc.symbol:LGALS3BP semapv:UnspecifiedMatching OMIM:600626 LGALS3BP skos:exactMatch ncbigene:3959 semapv:UnspecifiedMatching -OMIM:600629 HLA-DOB skos:exactMatch hgnc:HLA-DOB semapv:UnspecifiedMatching +OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:4937 semapv:UnspecifiedMatching +OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:HLA-DOB semapv:UnspecifiedMatching OMIM:600629 HLA-DOB skos:exactMatch ncbigene:3112 semapv:UnspecifiedMatching -OMIM:600632 OPCML skos:exactMatch hgnc:OPCML semapv:UnspecifiedMatching +OMIM:600632 OPCML skos:exactMatch hgnc.symbol:8143 semapv:UnspecifiedMatching +OMIM:600632 OPCML skos:exactMatch hgnc.symbol:OPCML semapv:UnspecifiedMatching OMIM:600632 OPCML skos:exactMatch ncbigene:4978 semapv:UnspecifiedMatching -OMIM:600633 TFF3 skos:exactMatch hgnc:TFF3 semapv:UnspecifiedMatching +OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:11757 semapv:UnspecifiedMatching +OMIM:600633 TFF3 skos:exactMatch hgnc.symbol:TFF3 semapv:UnspecifiedMatching OMIM:600633 TFF3 skos:exactMatch ncbigene:7033 semapv:UnspecifiedMatching -OMIM:600635 NKX2-1 skos:exactMatch hgnc:NKX2-1 semapv:UnspecifiedMatching +OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:11825 semapv:UnspecifiedMatching +OMIM:600635 NKX2-1 skos:exactMatch hgnc.symbol:NKX2-1 semapv:UnspecifiedMatching OMIM:600635 NKX2-1 skos:exactMatch ncbigene:7080 semapv:UnspecifiedMatching OMIM:600636 CASP3 skos:exactMatch UMLS:C1413132 semapv:UnspecifiedMatching -OMIM:600636 CASP3 skos:exactMatch hgnc:CASP3 semapv:UnspecifiedMatching +OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:1504 semapv:UnspecifiedMatching +OMIM:600636 CASP3 skos:exactMatch hgnc.symbol:CASP3 semapv:UnspecifiedMatching OMIM:600636 CASP3 skos:exactMatch ncbigene:836 semapv:UnspecifiedMatching -OMIM:600637 SLC1A6 skos:exactMatch hgnc:SLC1A6 semapv:UnspecifiedMatching +OMIM:600637 SLC1A6 skos:exactMatch hgnc.symbol:10944 semapv:UnspecifiedMatching +OMIM:600637 SLC1A6 skos:exactMatch hgnc.symbol:SLC1A6 semapv:UnspecifiedMatching OMIM:600637 SLC1A6 skos:exactMatch ncbigene:6511 semapv:UnspecifiedMatching -OMIM:600639 CASP2 skos:exactMatch hgnc:CASP2 semapv:UnspecifiedMatching +OMIM:600639 CASP2 skos:exactMatch hgnc.symbol:1503 semapv:UnspecifiedMatching +OMIM:600639 CASP2 skos:exactMatch hgnc.symbol:CASP2 semapv:UnspecifiedMatching OMIM:600639 CASP2 skos:exactMatch ncbigene:835 semapv:UnspecifiedMatching -OMIM:600641 SULT1A3 skos:exactMatch hgnc:SULT1A3 semapv:UnspecifiedMatching +OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:11455 semapv:UnspecifiedMatching +OMIM:600641 SULT1A3 skos:exactMatch hgnc.symbol:SULT1A3 semapv:UnspecifiedMatching OMIM:600641 SULT1A3 skos:exactMatch ncbigene:6818 semapv:UnspecifiedMatching -OMIM:600642 MYO1G skos:exactMatch hgnc:MYO1G semapv:UnspecifiedMatching +OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:13880 semapv:UnspecifiedMatching +OMIM:600642 MYO1G skos:exactMatch hgnc.symbol:MYO1G semapv:UnspecifiedMatching OMIM:600642 MYO1G skos:exactMatch ncbigene:64005 semapv:UnspecifiedMatching -OMIM:600644 NECTIN1 skos:exactMatch hgnc:NECTIN1 semapv:UnspecifiedMatching +OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:9706 semapv:UnspecifiedMatching +OMIM:600644 NECTIN1 skos:exactMatch hgnc.symbol:NECTIN1 semapv:UnspecifiedMatching OMIM:600644 NECTIN1 skos:exactMatch ncbigene:5818 semapv:UnspecifiedMatching -OMIM:600646 PROCR skos:exactMatch hgnc:PROCR semapv:UnspecifiedMatching +OMIM:600646 PROCR skos:exactMatch hgnc.symbol:9452 semapv:UnspecifiedMatching +OMIM:600646 PROCR skos:exactMatch hgnc.symbol:PROCR semapv:UnspecifiedMatching OMIM:600646 PROCR skos:exactMatch ncbigene:10544 semapv:UnspecifiedMatching -OMIM:600647 HMX2 skos:exactMatch hgnc:HMX2 semapv:UnspecifiedMatching +OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:5018 semapv:UnspecifiedMatching +OMIM:600647 HMX2 skos:exactMatch hgnc.symbol:HMX2 semapv:UnspecifiedMatching OMIM:600647 HMX2 skos:exactMatch ncbigene:3167 semapv:UnspecifiedMatching -OMIM:600650 CPT2 skos:exactMatch hgnc:CPT2 semapv:UnspecifiedMatching +OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:2330 semapv:UnspecifiedMatching +OMIM:600650 CPT2 skos:exactMatch hgnc.symbol:CPT2 semapv:UnspecifiedMatching OMIM:600650 CPT2 skos:exactMatch ncbigene:1376 semapv:UnspecifiedMatching -OMIM:600654 PSME1 skos:exactMatch hgnc:PSME1 semapv:UnspecifiedMatching +OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:9568 semapv:UnspecifiedMatching +OMIM:600654 PSME1 skos:exactMatch hgnc.symbol:PSME1 semapv:UnspecifiedMatching OMIM:600654 PSME1 skos:exactMatch ncbigene:5720 semapv:UnspecifiedMatching -OMIM:600655 EEF1B2 skos:exactMatch hgnc:EEF1B2 semapv:UnspecifiedMatching +OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:3208 semapv:UnspecifiedMatching +OMIM:600655 EEF1B2 skos:exactMatch hgnc.symbol:EEF1B2 semapv:UnspecifiedMatching OMIM:600655 EEF1B2 skos:exactMatch ncbigene:1933 semapv:UnspecifiedMatching -OMIM:600658 PPP5C skos:exactMatch hgnc:PPP5C semapv:UnspecifiedMatching +OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:9322 semapv:UnspecifiedMatching +OMIM:600658 PPP5C skos:exactMatch hgnc.symbol:PPP5C semapv:UnspecifiedMatching OMIM:600658 PPP5C skos:exactMatch ncbigene:5536 semapv:UnspecifiedMatching -OMIM:600659 E2F4 skos:exactMatch hgnc:E2F4 semapv:UnspecifiedMatching +OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:3118 semapv:UnspecifiedMatching +OMIM:600659 E2F4 skos:exactMatch hgnc.symbol:E2F4 semapv:UnspecifiedMatching OMIM:600659 E2F4 skos:exactMatch ncbigene:1874 semapv:UnspecifiedMatching -OMIM:600660 MEF2A skos:exactMatch hgnc:MEF2A semapv:UnspecifiedMatching +OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:6993 semapv:UnspecifiedMatching +OMIM:600660 MEF2A skos:exactMatch hgnc.symbol:MEF2A semapv:UnspecifiedMatching OMIM:600660 MEF2A skos:exactMatch ncbigene:4205 semapv:UnspecifiedMatching -OMIM:600661 MEF2B skos:exactMatch hgnc:MEF2B semapv:UnspecifiedMatching +OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:6995 semapv:UnspecifiedMatching +OMIM:600661 MEF2B skos:exactMatch hgnc.symbol:MEF2B semapv:UnspecifiedMatching OMIM:600661 MEF2B skos:exactMatch ncbigene:100271849 semapv:UnspecifiedMatching -OMIM:600662 MEF2C skos:exactMatch hgnc:MEF2C semapv:UnspecifiedMatching +OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:6996 semapv:UnspecifiedMatching +OMIM:600662 MEF2C skos:exactMatch hgnc.symbol:MEF2C semapv:UnspecifiedMatching OMIM:600662 MEF2C skos:exactMatch ncbigene:4208 semapv:UnspecifiedMatching OMIM:600663 MEF2D skos:exactMatch UMLS:C1417103 semapv:UnspecifiedMatching -OMIM:600663 MEF2D skos:exactMatch hgnc:MEF2D semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:6997 semapv:UnspecifiedMatching +OMIM:600663 MEF2D skos:exactMatch hgnc.symbol:MEF2D semapv:UnspecifiedMatching OMIM:600663 MEF2D skos:exactMatch ncbigene:4209 semapv:UnspecifiedMatching OMIM:600664 CHUK skos:exactMatch UMLS:C1413419 semapv:UnspecifiedMatching OMIM:600664 CHUK skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching -OMIM:600664 CHUK skos:exactMatch hgnc:CHUK semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch hgnc.symbol:1974 semapv:UnspecifiedMatching +OMIM:600664 CHUK skos:exactMatch hgnc.symbol:CHUK semapv:UnspecifiedMatching OMIM:600664 CHUK skos:exactMatch ncbigene:1147 semapv:UnspecifiedMatching -OMIM:600665 MTNR1A skos:exactMatch hgnc:MTNR1A semapv:UnspecifiedMatching +OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:7463 semapv:UnspecifiedMatching +OMIM:600665 MTNR1A skos:exactMatch hgnc.symbol:MTNR1A semapv:UnspecifiedMatching OMIM:600665 MTNR1A skos:exactMatch ncbigene:4543 semapv:UnspecifiedMatching -OMIM:600667 FZD2 skos:exactMatch hgnc:FZD2 semapv:UnspecifiedMatching +OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:4040 semapv:UnspecifiedMatching +OMIM:600667 FZD2 skos:exactMatch hgnc.symbol:FZD2 semapv:UnspecifiedMatching OMIM:600667 FZD2 skos:exactMatch ncbigene:2535 semapv:UnspecifiedMatching +OMIM:600668 chondrocalcinosis 1 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching OMIM:600668 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching -OMIM:600668 chondrocalcinosis 1 skos:exactMatch orphanet.ordo:1416 semapv:UnspecifiedMatching -OMIM:600673 UBTF skos:exactMatch hgnc:UBTF semapv:UnspecifiedMatching +OMIM:600673 UBTF skos:exactMatch hgnc.symbol:12511 semapv:UnspecifiedMatching +OMIM:600673 UBTF skos:exactMatch hgnc.symbol:UBTF semapv:UnspecifiedMatching OMIM:600673 UBTF skos:exactMatch ncbigene:7343 semapv:UnspecifiedMatching -OMIM:600675 XRCC3 skos:exactMatch hgnc:XRCC3 semapv:UnspecifiedMatching +OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:12830 semapv:UnspecifiedMatching +OMIM:600675 XRCC3 skos:exactMatch hgnc.symbol:XRCC3 semapv:UnspecifiedMatching OMIM:600675 XRCC3 skos:exactMatch ncbigene:7517 semapv:UnspecifiedMatching -OMIM:600676 CATR1 skos:exactMatch hgnc:CATR1 semapv:UnspecifiedMatching +OMIM:600676 CATR1 skos:exactMatch hgnc.symbol:1525 semapv:UnspecifiedMatching +OMIM:600676 CATR1 skos:exactMatch hgnc.symbol:CATR1 semapv:UnspecifiedMatching OMIM:600676 CATR1 skos:exactMatch ncbigene:856 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C0879393 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C1833477 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching -OMIM:600678 MSH6 skos:exactMatch hgnc:MSH6 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:7329 semapv:UnspecifiedMatching +OMIM:600678 MSH6 skos:exactMatch hgnc.symbol:MSH6 semapv:UnspecifiedMatching OMIM:600678 MSH6 skos:exactMatch ncbigene:2956 semapv:UnspecifiedMatching -OMIM:600681 KCNJ2 skos:exactMatch hgnc:KCNJ2 semapv:UnspecifiedMatching +OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:6263 semapv:UnspecifiedMatching +OMIM:600681 KCNJ2 skos:exactMatch hgnc.symbol:KCNJ2 semapv:UnspecifiedMatching OMIM:600681 KCNJ2 skos:exactMatch ncbigene:3759 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1420102 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1855577 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016683 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch UMLS:C4016684 semapv:UnspecifiedMatching -OMIM:600682 SLC16A1 skos:exactMatch hgnc:SLC16A1 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:10922 semapv:UnspecifiedMatching +OMIM:600682 SLC16A1 skos:exactMatch hgnc.symbol:SLC16A1 semapv:UnspecifiedMatching OMIM:600682 SLC16A1 skos:exactMatch ncbigene:6566 semapv:UnspecifiedMatching -OMIM:600684 LY9 skos:exactMatch hgnc:LY9 semapv:UnspecifiedMatching +OMIM:600684 LY9 skos:exactMatch hgnc.symbol:6730 semapv:UnspecifiedMatching +OMIM:600684 LY9 skos:exactMatch hgnc.symbol:LY9 semapv:UnspecifiedMatching OMIM:600684 LY9 skos:exactMatch ncbigene:4063 semapv:UnspecifiedMatching OMIM:600685 KPNA2 skos:exactMatch UMLS:C1416700 semapv:UnspecifiedMatching -OMIM:600685 KPNA2 skos:exactMatch hgnc:KPNA2 semapv:UnspecifiedMatching +OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:6395 semapv:UnspecifiedMatching +OMIM:600685 KPNA2 skos:exactMatch hgnc.symbol:KPNA2 semapv:UnspecifiedMatching OMIM:600685 KPNA2 skos:exactMatch ncbigene:3838 semapv:UnspecifiedMatching -OMIM:600686 KPNA1 skos:exactMatch hgnc:KPNA1 semapv:UnspecifiedMatching +OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:6394 semapv:UnspecifiedMatching +OMIM:600686 KPNA1 skos:exactMatch hgnc.symbol:KPNA1 semapv:UnspecifiedMatching OMIM:600686 KPNA1 skos:exactMatch ncbigene:3836 semapv:UnspecifiedMatching -OMIM:600687 TIAM1 skos:exactMatch hgnc:TIAM1 semapv:UnspecifiedMatching +OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:11805 semapv:UnspecifiedMatching +OMIM:600687 TIAM1 skos:exactMatch hgnc.symbol:TIAM1 semapv:UnspecifiedMatching OMIM:600687 TIAM1 skos:exactMatch ncbigene:7074 semapv:UnspecifiedMatching -OMIM:600688 CPA2 skos:exactMatch hgnc:CPA2 semapv:UnspecifiedMatching +OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:2297 semapv:UnspecifiedMatching +OMIM:600688 CPA2 skos:exactMatch hgnc.symbol:CPA2 semapv:UnspecifiedMatching OMIM:600688 CPA2 skos:exactMatch ncbigene:1358 semapv:UnspecifiedMatching -OMIM:600690 TCTA skos:exactMatch hgnc:TCTA semapv:UnspecifiedMatching +OMIM:600690 TCTA skos:exactMatch hgnc.symbol:11692 semapv:UnspecifiedMatching +OMIM:600690 TCTA skos:exactMatch hgnc.symbol:TCTA semapv:UnspecifiedMatching OMIM:600690 TCTA skos:exactMatch ncbigene:6988 semapv:UnspecifiedMatching -OMIM:600691 SLC27A1 skos:exactMatch hgnc:SLC27A1 semapv:UnspecifiedMatching +OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:10995 semapv:UnspecifiedMatching +OMIM:600691 SLC27A1 skos:exactMatch hgnc.symbol:SLC27A1 semapv:UnspecifiedMatching OMIM:600691 SLC27A1 skos:exactMatch ncbigene:376497 semapv:UnspecifiedMatching -OMIM:600692 TNNT3 skos:exactMatch hgnc:TNNT3 semapv:UnspecifiedMatching +OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:11950 semapv:UnspecifiedMatching +OMIM:600692 TNNT3 skos:exactMatch hgnc.symbol:TNNT3 semapv:UnspecifiedMatching OMIM:600692 TNNT3 skos:exactMatch ncbigene:7140 semapv:UnspecifiedMatching OMIM:600693 PTBP1 skos:exactMatch UMLS:C1419054 semapv:UnspecifiedMatching -OMIM:600693 PTBP1 skos:exactMatch hgnc:PTBP1 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:9583 semapv:UnspecifiedMatching +OMIM:600693 PTBP1 skos:exactMatch hgnc.symbol:PTBP1 semapv:UnspecifiedMatching OMIM:600693 PTBP1 skos:exactMatch ncbigene:5725 semapv:UnspecifiedMatching -OMIM:600694 IL6ST skos:exactMatch hgnc:IL6ST semapv:UnspecifiedMatching +OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:6021 semapv:UnspecifiedMatching +OMIM:600694 IL6ST skos:exactMatch hgnc.symbol:IL6ST semapv:UnspecifiedMatching OMIM:600694 IL6ST skos:exactMatch ncbigene:3572 semapv:UnspecifiedMatching -OMIM:600696 ECH1 skos:exactMatch hgnc:ECH1 semapv:UnspecifiedMatching +OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:3149 semapv:UnspecifiedMatching +OMIM:600696 ECH1 skos:exactMatch hgnc.symbol:ECH1 semapv:UnspecifiedMatching OMIM:600696 ECH1 skos:exactMatch ncbigene:1891 semapv:UnspecifiedMatching -OMIM:600697 RBBP5 skos:exactMatch hgnc:RBBP5 semapv:UnspecifiedMatching +OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:9888 semapv:UnspecifiedMatching +OMIM:600697 RBBP5 skos:exactMatch hgnc.symbol:RBBP5 semapv:UnspecifiedMatching OMIM:600697 RBBP5 skos:exactMatch ncbigene:5929 semapv:UnspecifiedMatching OMIM:600698 HMGA2 skos:exactMatch UMLS:C1333906 semapv:UnspecifiedMatching OMIM:600698 HMGA2 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching -OMIM:600698 HMGA2 skos:exactMatch hgnc:HMGA2 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:5009 semapv:UnspecifiedMatching +OMIM:600698 HMGA2 skos:exactMatch hgnc.symbol:HMGA2 semapv:UnspecifiedMatching OMIM:600698 HMGA2 skos:exactMatch ncbigene:8091 semapv:UnspecifiedMatching -OMIM:600700 LPP skos:exactMatch hgnc:LPP semapv:UnspecifiedMatching +OMIM:600700 LPP skos:exactMatch hgnc.symbol:6679 semapv:UnspecifiedMatching +OMIM:600700 LPP skos:exactMatch hgnc.symbol:LPP semapv:UnspecifiedMatching OMIM:600700 LPP skos:exactMatch ncbigene:4026 semapv:UnspecifiedMatching OMIM:600701 HMGA1 skos:exactMatch UMLS:C1333903 semapv:UnspecifiedMatching OMIM:600701 HMGA1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600701 HMGA1 skos:exactMatch hgnc:HMGA1 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:5010 semapv:UnspecifiedMatching +OMIM:600701 HMGA1 skos:exactMatch hgnc.symbol:HMGA1 semapv:UnspecifiedMatching OMIM:600701 HMGA1 skos:exactMatch ncbigene:3159 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C1419866 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C3280415 semapv:UnspecifiedMatching @@ -10665,242 +14311,344 @@ OMIM:600702 SCN8A skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch UMLS:C5193184 semapv:UnspecifiedMatching -OMIM:600702 SCN8A skos:exactMatch hgnc:SCN8A semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:10596 semapv:UnspecifiedMatching +OMIM:600702 SCN8A skos:exactMatch hgnc.symbol:SCN8A semapv:UnspecifiedMatching OMIM:600702 SCN8A skos:exactMatch ncbigene:6334 semapv:UnspecifiedMatching -OMIM:600707 SRP9 skos:exactMatch hgnc:SRP9 semapv:UnspecifiedMatching +OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:11304 semapv:UnspecifiedMatching +OMIM:600707 SRP9 skos:exactMatch hgnc.symbol:SRP9 semapv:UnspecifiedMatching OMIM:600707 SRP9 skos:exactMatch ncbigene:6726 semapv:UnspecifiedMatching -OMIM:600708 SRP14 skos:exactMatch hgnc:SRP14 semapv:UnspecifiedMatching +OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:11299 semapv:UnspecifiedMatching +OMIM:600708 SRP14 skos:exactMatch hgnc.symbol:SRP14 semapv:UnspecifiedMatching OMIM:600708 SRP14 skos:exactMatch ncbigene:6727 semapv:UnspecifiedMatching -OMIM:600709 IARS1 skos:exactMatch hgnc:IARS1 semapv:UnspecifiedMatching +OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:5330 semapv:UnspecifiedMatching +OMIM:600709 IARS1 skos:exactMatch hgnc.symbol:IARS1 semapv:UnspecifiedMatching OMIM:600709 IARS1 skos:exactMatch ncbigene:3376 semapv:UnspecifiedMatching -OMIM:600711 ETV4 skos:exactMatch hgnc:ETV4 semapv:UnspecifiedMatching +OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:3493 semapv:UnspecifiedMatching +OMIM:600711 ETV4 skos:exactMatch hgnc.symbol:ETV4 semapv:UnspecifiedMatching OMIM:600711 ETV4 skos:exactMatch ncbigene:2118 semapv:UnspecifiedMatching -OMIM:600712 HNRNPK skos:exactMatch hgnc:HNRNPK semapv:UnspecifiedMatching +OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:5044 semapv:UnspecifiedMatching +OMIM:600712 HNRNPK skos:exactMatch hgnc.symbol:HNRNPK semapv:UnspecifiedMatching OMIM:600712 HNRNPK skos:exactMatch ncbigene:3190 semapv:UnspecifiedMatching -OMIM:600713 HSD11B1 skos:exactMatch hgnc:HSD11B1 semapv:UnspecifiedMatching +OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:5208 semapv:UnspecifiedMatching +OMIM:600713 HSD11B1 skos:exactMatch hgnc.symbol:HSD11B1 semapv:UnspecifiedMatching OMIM:600713 HSD11B1 skos:exactMatch ncbigene:3290 semapv:UnspecifiedMatching -OMIM:600714 DUSP1 skos:exactMatch hgnc:DUSP1 semapv:UnspecifiedMatching +OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:3064 semapv:UnspecifiedMatching +OMIM:600714 DUSP1 skos:exactMatch hgnc.symbol:DUSP1 semapv:UnspecifiedMatching OMIM:600714 DUSP1 skos:exactMatch ncbigene:1843 semapv:UnspecifiedMatching -OMIM:600715 THBS4 skos:exactMatch hgnc:THBS4 semapv:UnspecifiedMatching +OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:11788 semapv:UnspecifiedMatching +OMIM:600715 THBS4 skos:exactMatch hgnc.symbol:THBS4 semapv:UnspecifiedMatching OMIM:600715 THBS4 skos:exactMatch ncbigene:7060 semapv:UnspecifiedMatching -OMIM:600716 PTPN22 skos:exactMatch hgnc:PTPN22 semapv:UnspecifiedMatching +OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:9652 semapv:UnspecifiedMatching +OMIM:600716 PTPN22 skos:exactMatch hgnc.symbol:PTPN22 semapv:UnspecifiedMatching OMIM:600716 PTPN22 skos:exactMatch ncbigene:26191 semapv:UnspecifiedMatching OMIM:600719 NOS2B skos:exactMatch UMLS:C1417761 semapv:UnspecifiedMatching -OMIM:600719 NOS2B skos:exactMatch hgnc:NOS2P2 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:7874 semapv:UnspecifiedMatching +OMIM:600719 NOS2B skos:exactMatch hgnc.symbol:NOS2P2 semapv:UnspecifiedMatching OMIM:600719 NOS2B skos:exactMatch ncbigene:201288 semapv:UnspecifiedMatching OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch UMLS:C1417762 semapv:UnspecifiedMatching -OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc:NOS2P1 semapv:UnspecifiedMatching -OMIM:600722 PPT1 skos:exactMatch hgnc:PPT1 semapv:UnspecifiedMatching +OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:7875 semapv:UnspecifiedMatching +OMIM:600720 nitric oxide synthase 2 pseudogene 1 skos:exactMatch hgnc.symbol:NOS2P1 semapv:UnspecifiedMatching +OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:9325 semapv:UnspecifiedMatching +OMIM:600722 PPT1 skos:exactMatch hgnc.symbol:PPT1 semapv:UnspecifiedMatching OMIM:600722 PPT1 skos:exactMatch ncbigene:5538 semapv:UnspecifiedMatching -OMIM:600723 MPP2 skos:exactMatch hgnc:MPP2 semapv:UnspecifiedMatching +OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:7220 semapv:UnspecifiedMatching +OMIM:600723 MPP2 skos:exactMatch hgnc.symbol:MPP2 semapv:UnspecifiedMatching OMIM:600723 MPP2 skos:exactMatch ncbigene:4355 semapv:UnspecifiedMatching -OMIM:600724 CNGB1 skos:exactMatch hgnc:CNGB1 semapv:UnspecifiedMatching +OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:2151 semapv:UnspecifiedMatching +OMIM:600724 CNGB1 skos:exactMatch hgnc.symbol:CNGB1 semapv:UnspecifiedMatching OMIM:600724 CNGB1 skos:exactMatch ncbigene:1258 semapv:UnspecifiedMatching -OMIM:600725 SHH skos:exactMatch hgnc:SHH semapv:UnspecifiedMatching +OMIM:600725 SHH skos:exactMatch hgnc.symbol:10848 semapv:UnspecifiedMatching +OMIM:600725 SHH skos:exactMatch hgnc.symbol:SHH semapv:UnspecifiedMatching OMIM:600725 SHH skos:exactMatch ncbigene:6469 semapv:UnspecifiedMatching -OMIM:600726 IHH skos:exactMatch hgnc:IHH semapv:UnspecifiedMatching +OMIM:600726 IHH skos:exactMatch hgnc.symbol:5956 semapv:UnspecifiedMatching +OMIM:600726 IHH skos:exactMatch hgnc.symbol:IHH semapv:UnspecifiedMatching OMIM:600726 IHH skos:exactMatch ncbigene:3549 semapv:UnspecifiedMatching -OMIM:600727 NFIA skos:exactMatch hgnc:NFIA semapv:UnspecifiedMatching +OMIM:600727 NFIA skos:exactMatch hgnc.symbol:7784 semapv:UnspecifiedMatching +OMIM:600727 NFIA skos:exactMatch hgnc.symbol:NFIA semapv:UnspecifiedMatching OMIM:600727 NFIA skos:exactMatch ncbigene:4774 semapv:UnspecifiedMatching -OMIM:600728 NFIB skos:exactMatch hgnc:NFIB semapv:UnspecifiedMatching +OMIM:600728 NFIB skos:exactMatch hgnc.symbol:7785 semapv:UnspecifiedMatching +OMIM:600728 NFIB skos:exactMatch hgnc.symbol:NFIB semapv:UnspecifiedMatching OMIM:600728 NFIB skos:exactMatch ncbigene:4781 semapv:UnspecifiedMatching -OMIM:600729 NFIC skos:exactMatch hgnc:NFIC semapv:UnspecifiedMatching +OMIM:600729 NFIC skos:exactMatch hgnc.symbol:7786 semapv:UnspecifiedMatching +OMIM:600729 NFIC skos:exactMatch hgnc.symbol:NFIC semapv:UnspecifiedMatching OMIM:600729 NFIC skos:exactMatch ncbigene:4782 semapv:UnspecifiedMatching -OMIM:600730 NPBWR1 skos:exactMatch hgnc:NPBWR1 semapv:UnspecifiedMatching +OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:4522 semapv:UnspecifiedMatching +OMIM:600730 NPBWR1 skos:exactMatch hgnc.symbol:NPBWR1 semapv:UnspecifiedMatching OMIM:600730 NPBWR1 skos:exactMatch ncbigene:2831 semapv:UnspecifiedMatching -OMIM:600731 GPR8 skos:exactMatch hgnc:NPBWR2 semapv:UnspecifiedMatching +OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:4530 semapv:UnspecifiedMatching +OMIM:600731 GPR8 skos:exactMatch hgnc.symbol:NPBWR2 semapv:UnspecifiedMatching OMIM:600731 GPR8 skos:exactMatch ncbigene:2832 semapv:UnspecifiedMatching OMIM:600732 ARL4D skos:exactMatch UMLS:C1824202 semapv:UnspecifiedMatching -OMIM:600732 ARL4D skos:exactMatch hgnc:ARL4D semapv:UnspecifiedMatching +OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:656 semapv:UnspecifiedMatching +OMIM:600732 ARL4D skos:exactMatch hgnc.symbol:ARL4D semapv:UnspecifiedMatching OMIM:600732 ARL4D skos:exactMatch ncbigene:379 semapv:UnspecifiedMatching -OMIM:600733 PDX1 skos:exactMatch hgnc:PDX1 semapv:UnspecifiedMatching +OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:6107 semapv:UnspecifiedMatching +OMIM:600733 PDX1 skos:exactMatch hgnc.symbol:PDX1 semapv:UnspecifiedMatching OMIM:600733 PDX1 skos:exactMatch ncbigene:3651 semapv:UnspecifiedMatching -OMIM:600734 KCNJ5 skos:exactMatch hgnc:KCNJ5 semapv:UnspecifiedMatching +OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:6266 semapv:UnspecifiedMatching +OMIM:600734 KCNJ5 skos:exactMatch hgnc.symbol:KCNJ5 semapv:UnspecifiedMatching OMIM:600734 KCNJ5 skos:exactMatch ncbigene:3762 semapv:UnspecifiedMatching -OMIM:600735 IFI35 skos:exactMatch hgnc:IFI35 semapv:UnspecifiedMatching +OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:5399 semapv:UnspecifiedMatching +OMIM:600735 IFI35 skos:exactMatch hgnc.symbol:IFI35 semapv:UnspecifiedMatching OMIM:600735 IFI35 skos:exactMatch ncbigene:3430 semapv:UnspecifiedMatching OMIM:600738 SELPLG skos:exactMatch UMLS:C1419941 semapv:UnspecifiedMatching -OMIM:600738 SELPLG skos:exactMatch hgnc:SELPLG semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:10722 semapv:UnspecifiedMatching +OMIM:600738 SELPLG skos:exactMatch hgnc.symbol:SELPLG semapv:UnspecifiedMatching OMIM:600738 SELPLG skos:exactMatch ncbigene:6404 semapv:UnspecifiedMatching -OMIM:600739 SHCL1 skos:exactMatch hgnc:SHC1P2 semapv:UnspecifiedMatching +OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:10842 semapv:UnspecifiedMatching +OMIM:600739 SHCL1 skos:exactMatch hgnc.symbol:SHC1P2 semapv:UnspecifiedMatching OMIM:600739 SHCL1 skos:exactMatch ncbigene:6466 semapv:UnspecifiedMatching -OMIM:600742 TGFBR3 skos:exactMatch hgnc:TGFBR3 semapv:UnspecifiedMatching +OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:11774 semapv:UnspecifiedMatching +OMIM:600742 TGFBR3 skos:exactMatch hgnc.symbol:TGFBR3 semapv:UnspecifiedMatching OMIM:600742 TGFBR3 skos:exactMatch ncbigene:7049 semapv:UnspecifiedMatching -OMIM:600743 TFAP4 skos:exactMatch hgnc:TFAP4 semapv:UnspecifiedMatching +OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:11745 semapv:UnspecifiedMatching +OMIM:600743 TFAP4 skos:exactMatch hgnc.symbol:TFAP4 semapv:UnspecifiedMatching OMIM:600743 TFAP4 skos:exactMatch ncbigene:7023 semapv:UnspecifiedMatching OMIM:600744 TFEB skos:exactMatch UMLS:C1420699 semapv:UnspecifiedMatching -OMIM:600744 TFEB skos:exactMatch hgnc:TFEB semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch hgnc.symbol:11753 semapv:UnspecifiedMatching +OMIM:600744 TFEB skos:exactMatch hgnc.symbol:TFEB semapv:UnspecifiedMatching OMIM:600744 TFEB skos:exactMatch ncbigene:7942 semapv:UnspecifiedMatching -OMIM:600745 APOC4 skos:exactMatch hgnc:APOC4 semapv:UnspecifiedMatching +OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:611 semapv:UnspecifiedMatching +OMIM:600745 APOC4 skos:exactMatch hgnc.symbol:APOC4 semapv:UnspecifiedMatching OMIM:600745 APOC4 skos:exactMatch ncbigene:346 semapv:UnspecifiedMatching -OMIM:600746 CDX1 skos:exactMatch hgnc:CDX1 semapv:UnspecifiedMatching +OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:1805 semapv:UnspecifiedMatching +OMIM:600746 CDX1 skos:exactMatch hgnc.symbol:CDX1 semapv:UnspecifiedMatching OMIM:600746 CDX1 skos:exactMatch ncbigene:1044 semapv:UnspecifiedMatching OMIM:600747 TBX2 skos:exactMatch UMLS:C1420608 semapv:UnspecifiedMatching OMIM:600747 TBX2 skos:exactMatch UMLS:C4748741 semapv:UnspecifiedMatching -OMIM:600747 TBX2 skos:exactMatch hgnc:TBX2 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:11597 semapv:UnspecifiedMatching +OMIM:600747 TBX2 skos:exactMatch hgnc.symbol:TBX2 semapv:UnspecifiedMatching OMIM:600747 TBX2 skos:exactMatch ncbigene:6909 semapv:UnspecifiedMatching -OMIM:600748 TMBIM6 skos:exactMatch hgnc:TMBIM6 semapv:UnspecifiedMatching +OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:11723 semapv:UnspecifiedMatching +OMIM:600748 TMBIM6 skos:exactMatch hgnc.symbol:TMBIM6 semapv:UnspecifiedMatching OMIM:600748 TMBIM6 skos:exactMatch ncbigene:7009 semapv:UnspecifiedMatching -OMIM:600749 CEBPE skos:exactMatch hgnc:CEBPE semapv:UnspecifiedMatching +OMIM:600749 CEBPE skos:exactMatch hgnc.symbol:1836 semapv:UnspecifiedMatching +OMIM:600749 CEBPE skos:exactMatch hgnc.symbol:CEBPE semapv:UnspecifiedMatching OMIM:600749 CEBPE skos:exactMatch ncbigene:1053 semapv:UnspecifiedMatching -OMIM:600750 NPTX2 skos:exactMatch hgnc:NPTX2 semapv:UnspecifiedMatching +OMIM:600750 NPTX2 skos:exactMatch hgnc.symbol:7953 semapv:UnspecifiedMatching +OMIM:600750 NPTX2 skos:exactMatch hgnc.symbol:NPTX2 semapv:UnspecifiedMatching OMIM:600750 NPTX2 skos:exactMatch ncbigene:4885 semapv:UnspecifiedMatching -OMIM:600751 SIGLEC1 skos:exactMatch hgnc:SIGLEC1 semapv:UnspecifiedMatching +OMIM:600751 SIGLEC1 skos:exactMatch hgnc.symbol:11127 semapv:UnspecifiedMatching +OMIM:600751 SIGLEC1 skos:exactMatch hgnc.symbol:SIGLEC1 semapv:UnspecifiedMatching OMIM:600751 SIGLEC1 skos:exactMatch ncbigene:6614 semapv:UnspecifiedMatching -OMIM:600752 GPR12 skos:exactMatch hgnc:GPR12 semapv:UnspecifiedMatching +OMIM:600752 GPR12 skos:exactMatch hgnc.symbol:4466 semapv:UnspecifiedMatching +OMIM:600752 GPR12 skos:exactMatch hgnc.symbol:GPR12 semapv:UnspecifiedMatching OMIM:600752 GPR12 skos:exactMatch ncbigene:2835 semapv:UnspecifiedMatching -OMIM:600753 GLG1 skos:exactMatch hgnc:GLG1 semapv:UnspecifiedMatching +OMIM:600753 GLG1 skos:exactMatch hgnc.symbol:4316 semapv:UnspecifiedMatching +OMIM:600753 GLG1 skos:exactMatch hgnc.symbol:GLG1 semapv:UnspecifiedMatching OMIM:600753 GLG1 skos:exactMatch ncbigene:2734 semapv:UnspecifiedMatching -OMIM:600754 MMP14 skos:exactMatch hgnc:MMP14 semapv:UnspecifiedMatching +OMIM:600754 MMP14 skos:exactMatch hgnc.symbol:7160 semapv:UnspecifiedMatching +OMIM:600754 MMP14 skos:exactMatch hgnc.symbol:MMP14 semapv:UnspecifiedMatching OMIM:600754 MMP14 skos:exactMatch ncbigene:4323 semapv:UnspecifiedMatching -OMIM:600755 SYN2 skos:exactMatch hgnc:SYN2 semapv:UnspecifiedMatching +OMIM:600755 SYN2 skos:exactMatch hgnc.symbol:11495 semapv:UnspecifiedMatching +OMIM:600755 SYN2 skos:exactMatch hgnc.symbol:SYN2 semapv:UnspecifiedMatching OMIM:600755 SYN2 skos:exactMatch ncbigene:6854 semapv:UnspecifiedMatching -OMIM:600756 PTPA skos:exactMatch hgnc:PTPA semapv:UnspecifiedMatching +OMIM:600756 PTPA skos:exactMatch hgnc.symbol:9308 semapv:UnspecifiedMatching +OMIM:600756 PTPA skos:exactMatch hgnc.symbol:PTPA semapv:UnspecifiedMatching OMIM:600756 PTPA skos:exactMatch ncbigene:5524 semapv:UnspecifiedMatching -OMIM:600758 PTK2 skos:exactMatch hgnc:PTK2 semapv:UnspecifiedMatching +OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:9611 semapv:UnspecifiedMatching +OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:PTK2 semapv:UnspecifiedMatching OMIM:600758 PTK2 skos:exactMatch ncbigene:5747 semapv:UnspecifiedMatching -OMIM:600759 PSEN2 skos:exactMatch hgnc:PSEN2 semapv:UnspecifiedMatching +OMIM:600759 PSEN2 skos:exactMatch hgnc.symbol:9509 semapv:UnspecifiedMatching +OMIM:600759 PSEN2 skos:exactMatch hgnc.symbol:PSEN2 semapv:UnspecifiedMatching OMIM:600759 PSEN2 skos:exactMatch ncbigene:5664 semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch UMLS:C0221043 semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch UMLS:C1419869 semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch UMLS:C2749757 semapv:UnspecifiedMatching -OMIM:600760 SCNN1B skos:exactMatch hgnc:SCNN1B semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:10600 semapv:UnspecifiedMatching +OMIM:600760 SCNN1B skos:exactMatch hgnc.symbol:SCNN1B semapv:UnspecifiedMatching OMIM:600760 SCNN1B skos:exactMatch ncbigene:6338 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C1419871 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C1449843 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C2751324 semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching -OMIM:600761 SCNN1G skos:exactMatch hgnc:SCNN1G semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:10602 semapv:UnspecifiedMatching +OMIM:600761 SCNN1G skos:exactMatch hgnc.symbol:SCNN1G semapv:UnspecifiedMatching OMIM:600761 SCNN1G skos:exactMatch ncbigene:6340 semapv:UnspecifiedMatching OMIM:600762 human papillomavirus e5 central sequence-like 1 skos:exactMatch UMLS:C1415711 semapv:UnspecifiedMatching -OMIM:600763 TPT1 skos:exactMatch hgnc:TPT1 semapv:UnspecifiedMatching +OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:12022 semapv:UnspecifiedMatching +OMIM:600763 TPT1 skos:exactMatch hgnc.symbol:TPT1 semapv:UnspecifiedMatching OMIM:600763 TPT1 skos:exactMatch ncbigene:7178 semapv:UnspecifiedMatching OMIM:600764 MR1 skos:exactMatch UMLS:C1415592 semapv:UnspecifiedMatching -OMIM:600764 MR1 skos:exactMatch hgnc:MR1 semapv:UnspecifiedMatching +OMIM:600764 MR1 skos:exactMatch hgnc.symbol:4975 semapv:UnspecifiedMatching +OMIM:600764 MR1 skos:exactMatch hgnc.symbol:MR1 semapv:UnspecifiedMatching OMIM:600764 MR1 skos:exactMatch ncbigene:3140 semapv:UnspecifiedMatching -OMIM:600767 GDI2 skos:exactMatch hgnc:GDI2 semapv:UnspecifiedMatching +OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:4227 semapv:UnspecifiedMatching +OMIM:600767 GDI2 skos:exactMatch hgnc.symbol:GDI2 semapv:UnspecifiedMatching OMIM:600767 GDI2 skos:exactMatch ncbigene:2665 semapv:UnspecifiedMatching -OMIM:600768 PTPN9 skos:exactMatch hgnc:PTPN9 semapv:UnspecifiedMatching +OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:9661 semapv:UnspecifiedMatching +OMIM:600768 PTPN9 skos:exactMatch hgnc.symbol:PTPN9 semapv:UnspecifiedMatching OMIM:600768 PTPN9 skos:exactMatch ncbigene:5780 semapv:UnspecifiedMatching OMIM:600769 TSPAN8 skos:exactMatch UMLS:C1540088 semapv:UnspecifiedMatching -OMIM:600769 TSPAN8 skos:exactMatch hgnc:TSPAN8 semapv:UnspecifiedMatching +OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:11855 semapv:UnspecifiedMatching +OMIM:600769 TSPAN8 skos:exactMatch hgnc.symbol:TSPAN8 semapv:UnspecifiedMatching OMIM:600769 TSPAN8 skos:exactMatch ncbigene:7103 semapv:UnspecifiedMatching -OMIM:600770 MUC5B skos:exactMatch hgnc:MUC5B semapv:UnspecifiedMatching +OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:7516 semapv:UnspecifiedMatching +OMIM:600770 MUC5B skos:exactMatch hgnc.symbol:MUC5B semapv:UnspecifiedMatching OMIM:600770 MUC5B skos:exactMatch ncbigene:727897 semapv:UnspecifiedMatching -OMIM:600772 TAF11 skos:exactMatch hgnc:TAF11 semapv:UnspecifiedMatching +OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:11544 semapv:UnspecifiedMatching +OMIM:600772 TAF11 skos:exactMatch hgnc.symbol:TAF11 semapv:UnspecifiedMatching OMIM:600772 TAF11 skos:exactMatch ncbigene:6882 semapv:UnspecifiedMatching -OMIM:600773 TAF12 skos:exactMatch hgnc:TAF12 semapv:UnspecifiedMatching +OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:11545 semapv:UnspecifiedMatching +OMIM:600773 TAF12 skos:exactMatch hgnc.symbol:TAF12 semapv:UnspecifiedMatching OMIM:600773 TAF12 skos:exactMatch ncbigene:6883 semapv:UnspecifiedMatching -OMIM:600774 TAF13 skos:exactMatch hgnc:TAF13 semapv:UnspecifiedMatching +OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:11546 semapv:UnspecifiedMatching +OMIM:600774 TAF13 skos:exactMatch hgnc.symbol:TAF13 semapv:UnspecifiedMatching OMIM:600774 TAF13 skos:exactMatch ncbigene:6884 semapv:UnspecifiedMatching -OMIM:600777 TTF1 skos:exactMatch hgnc:TTF1 semapv:UnspecifiedMatching +OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:12397 semapv:UnspecifiedMatching +OMIM:600777 TTF1 skos:exactMatch hgnc.symbol:TTF1 semapv:UnspecifiedMatching OMIM:600777 TTF1 skos:exactMatch ncbigene:7270 semapv:UnspecifiedMatching -OMIM:600778 CDKN1B skos:exactMatch hgnc:CDKN1B semapv:UnspecifiedMatching +OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:1785 semapv:UnspecifiedMatching +OMIM:600778 CDKN1B skos:exactMatch hgnc.symbol:CDKN1B semapv:UnspecifiedMatching OMIM:600778 CDKN1B skos:exactMatch ncbigene:1027 semapv:UnspecifiedMatching -OMIM:600781 PYY skos:exactMatch hgnc:PYY semapv:UnspecifiedMatching +OMIM:600781 PYY skos:exactMatch hgnc.symbol:9748 semapv:UnspecifiedMatching +OMIM:600781 PYY skos:exactMatch hgnc.symbol:PYY semapv:UnspecifiedMatching OMIM:600781 PYY skos:exactMatch ncbigene:5697 semapv:UnspecifiedMatching -OMIM:600782 SYT5 skos:exactMatch hgnc:SYT5 semapv:UnspecifiedMatching +OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:11513 semapv:UnspecifiedMatching +OMIM:600782 SYT5 skos:exactMatch hgnc.symbol:SYT5 semapv:UnspecifiedMatching OMIM:600782 SYT5 skos:exactMatch ncbigene:6861 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch UMLS:C1415474 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching -OMIM:600783 HARS2 skos:exactMatch hgnc:HARS2 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:4817 semapv:UnspecifiedMatching +OMIM:600783 HARS2 skos:exactMatch hgnc.symbol:HARS2 semapv:UnspecifiedMatching OMIM:600783 HARS2 skos:exactMatch ncbigene:23438 semapv:UnspecifiedMatching -OMIM:600784 GZMK skos:exactMatch hgnc:GZMK semapv:UnspecifiedMatching +OMIM:600784 GZMK skos:exactMatch hgnc.symbol:4711 semapv:UnspecifiedMatching +OMIM:600784 GZMK skos:exactMatch hgnc.symbol:GZMK semapv:UnspecifiedMatching OMIM:600784 GZMK skos:exactMatch ncbigene:3003 semapv:UnspecifiedMatching -OMIM:600786 ELOA skos:exactMatch hgnc:ELOA semapv:UnspecifiedMatching +OMIM:600786 ELOA skos:exactMatch hgnc.symbol:11620 semapv:UnspecifiedMatching +OMIM:600786 ELOA skos:exactMatch hgnc.symbol:ELOA semapv:UnspecifiedMatching OMIM:600786 ELOA skos:exactMatch ncbigene:6924 semapv:UnspecifiedMatching -OMIM:600787 ELOB skos:exactMatch hgnc:ELOB semapv:UnspecifiedMatching +OMIM:600787 ELOB skos:exactMatch hgnc.symbol:11619 semapv:UnspecifiedMatching +OMIM:600787 ELOB skos:exactMatch hgnc.symbol:ELOB semapv:UnspecifiedMatching OMIM:600787 ELOB skos:exactMatch ncbigene:6923 semapv:UnspecifiedMatching -OMIM:600788 ELOC skos:exactMatch hgnc:ELOC semapv:UnspecifiedMatching +OMIM:600788 ELOC skos:exactMatch hgnc.symbol:11617 semapv:UnspecifiedMatching +OMIM:600788 ELOC skos:exactMatch hgnc.symbol:ELOC semapv:UnspecifiedMatching OMIM:600788 ELOC skos:exactMatch ncbigene:6921 semapv:UnspecifiedMatching -OMIM:600789 RPL23L skos:exactMatch hgnc:MRPL23 semapv:UnspecifiedMatching +OMIM:600789 RPL23L skos:exactMatch hgnc.symbol:10322 semapv:UnspecifiedMatching +OMIM:600789 RPL23L skos:exactMatch hgnc.symbol:MRPL23 semapv:UnspecifiedMatching OMIM:600789 RPL23L skos:exactMatch ncbigene:6150 semapv:UnspecifiedMatching +OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C1833308 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C5399969 semapv:UnspecifiedMatching -OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch orphanet.ordo:139536 semapv:UnspecifiedMatching -OMIM:600796 SF3A2 skos:exactMatch hgnc:SF3A2 semapv:UnspecifiedMatching +OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:10766 semapv:UnspecifiedMatching +OMIM:600796 SF3A2 skos:exactMatch hgnc.symbol:SF3A2 semapv:UnspecifiedMatching OMIM:600796 SF3A2 skos:exactMatch ncbigene:8175 semapv:UnspecifiedMatching -OMIM:600797 IRS2 skos:exactMatch hgnc:IRS2 semapv:UnspecifiedMatching +OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:6126 semapv:UnspecifiedMatching +OMIM:600797 IRS2 skos:exactMatch hgnc.symbol:IRS2 semapv:UnspecifiedMatching OMIM:600797 IRS2 skos:exactMatch ncbigene:8660 semapv:UnspecifiedMatching -OMIM:600798 NECTIN2 skos:exactMatch hgnc:NECTIN2 semapv:UnspecifiedMatching +OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:9707 semapv:UnspecifiedMatching +OMIM:600798 NECTIN2 skos:exactMatch hgnc.symbol:NECTIN2 semapv:UnspecifiedMatching OMIM:600798 NECTIN2 skos:exactMatch ncbigene:5819 semapv:UnspecifiedMatching -OMIM:600799 BMPR2 skos:exactMatch hgnc:BMPR2 semapv:UnspecifiedMatching +OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:1078 semapv:UnspecifiedMatching +OMIM:600799 BMPR2 skos:exactMatch hgnc.symbol:BMPR2 semapv:UnspecifiedMatching OMIM:600799 BMPR2 skos:exactMatch ncbigene:659 semapv:UnspecifiedMatching -OMIM:600800 NAB1 skos:exactMatch hgnc:NAB1 semapv:UnspecifiedMatching +OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:7626 semapv:UnspecifiedMatching +OMIM:600800 NAB1 skos:exactMatch hgnc.symbol:NAB1 semapv:UnspecifiedMatching OMIM:600800 NAB1 skos:exactMatch ncbigene:4664 semapv:UnspecifiedMatching OMIM:600804 MTNR1B skos:exactMatch UMLS:C1442506 semapv:UnspecifiedMatching OMIM:600804 MTNR1B skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:600804 MTNR1B skos:exactMatch hgnc:MTNR1B semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:7464 semapv:UnspecifiedMatching +OMIM:600804 MTNR1B skos:exactMatch hgnc.symbol:MTNR1B semapv:UnspecifiedMatching OMIM:600804 MTNR1B skos:exactMatch ncbigene:4544 semapv:UnspecifiedMatching -OMIM:600805 LAMA3 skos:exactMatch hgnc:LAMA3 semapv:UnspecifiedMatching +OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:6483 semapv:UnspecifiedMatching +OMIM:600805 LAMA3 skos:exactMatch hgnc.symbol:LAMA3 semapv:UnspecifiedMatching OMIM:600805 LAMA3 skos:exactMatch ncbigene:3909 semapv:UnspecifiedMatching -OMIM:600806 CNN1 skos:exactMatch hgnc:CNN1 semapv:UnspecifiedMatching +OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:2155 semapv:UnspecifiedMatching +OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:CNN1 semapv:UnspecifiedMatching OMIM:600806 CNN1 skos:exactMatch ncbigene:1264 semapv:UnspecifiedMatching -OMIM:600810 PLCB4 skos:exactMatch hgnc:PLCB4 semapv:UnspecifiedMatching +OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:9059 semapv:UnspecifiedMatching +OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:PLCB4 semapv:UnspecifiedMatching OMIM:600810 PLCB4 skos:exactMatch ncbigene:5332 semapv:UnspecifiedMatching -OMIM:600811 DDB2 skos:exactMatch hgnc:DDB2 semapv:UnspecifiedMatching +OMIM:600811 DDB2 skos:exactMatch hgnc.symbol:2718 semapv:UnspecifiedMatching +OMIM:600811 DDB2 skos:exactMatch hgnc.symbol:DDB2 semapv:UnspecifiedMatching OMIM:600811 DDB2 skos:exactMatch ncbigene:1643 semapv:UnspecifiedMatching OMIM:600812 SRSF1 skos:exactMatch UMLS:C1419989 semapv:UnspecifiedMatching -OMIM:600812 SRSF1 skos:exactMatch hgnc:SRSF1 semapv:UnspecifiedMatching +OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:10780 semapv:UnspecifiedMatching +OMIM:600812 SRSF1 skos:exactMatch hgnc.symbol:SRSF1 semapv:UnspecifiedMatching OMIM:600812 SRSF1 skos:exactMatch ncbigene:6426 semapv:UnspecifiedMatching OMIM:600813 SRSF2 skos:exactMatch UMLS:C1419992 semapv:UnspecifiedMatching -OMIM:600813 SRSF2 skos:exactMatch hgnc:SRSF2 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:10783 semapv:UnspecifiedMatching +OMIM:600813 SRSF2 skos:exactMatch hgnc.symbol:SRSF2 semapv:UnspecifiedMatching OMIM:600813 SRSF2 skos:exactMatch ncbigene:6427 semapv:UnspecifiedMatching -OMIM:600814 MRE11 skos:exactMatch hgnc:MRE11 semapv:UnspecifiedMatching +OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:7230 semapv:UnspecifiedMatching +OMIM:600814 MRE11 skos:exactMatch hgnc.symbol:MRE11 semapv:UnspecifiedMatching OMIM:600814 MRE11 skos:exactMatch ncbigene:4361 semapv:UnspecifiedMatching -OMIM:600815 POLD2 skos:exactMatch hgnc:POLD2 semapv:UnspecifiedMatching +OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:9176 semapv:UnspecifiedMatching +OMIM:600815 POLD2 skos:exactMatch hgnc.symbol:POLD2 semapv:UnspecifiedMatching OMIM:600815 POLD2 skos:exactMatch ncbigene:5425 semapv:UnspecifiedMatching -OMIM:600816 HSPA8 skos:exactMatch hgnc:HSPA8 semapv:UnspecifiedMatching +OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:5241 semapv:UnspecifiedMatching +OMIM:600816 HSPA8 skos:exactMatch hgnc.symbol:HSPA8 semapv:UnspecifiedMatching OMIM:600816 HSPA8 skos:exactMatch ncbigene:3312 semapv:UnspecifiedMatching -OMIM:600817 VSNL1 skos:exactMatch hgnc:VSNL1 semapv:UnspecifiedMatching +OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:12722 semapv:UnspecifiedMatching +OMIM:600817 VSNL1 skos:exactMatch hgnc.symbol:VSNL1 semapv:UnspecifiedMatching OMIM:600817 VSNL1 skos:exactMatch ncbigene:7447 semapv:UnspecifiedMatching -OMIM:600818 TAGLN skos:exactMatch hgnc:TAGLN semapv:UnspecifiedMatching +OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:11553 semapv:UnspecifiedMatching +OMIM:600818 TAGLN skos:exactMatch hgnc.symbol:TAGLN semapv:UnspecifiedMatching OMIM:600818 TAGLN skos:exactMatch ncbigene:6876 semapv:UnspecifiedMatching OMIM:600819 FXR1 skos:exactMatch UMLS:C1414872 semapv:UnspecifiedMatching OMIM:600819 FXR1 skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching OMIM:600819 FXR1 skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching -OMIM:600819 FXR1 skos:exactMatch hgnc:FXR1 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:4023 semapv:UnspecifiedMatching +OMIM:600819 FXR1 skos:exactMatch hgnc.symbol:FXR1 semapv:UnspecifiedMatching OMIM:600819 FXR1 skos:exactMatch ncbigene:8087 semapv:UnspecifiedMatching -OMIM:600820 ARCN1 skos:exactMatch hgnc:ARCN1 semapv:UnspecifiedMatching +OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:649 semapv:UnspecifiedMatching +OMIM:600820 ARCN1 skos:exactMatch hgnc.symbol:ARCN1 semapv:UnspecifiedMatching OMIM:600820 ARCN1 skos:exactMatch ncbigene:372 semapv:UnspecifiedMatching -OMIM:600821 AVPR1A skos:exactMatch hgnc:AVPR1A semapv:UnspecifiedMatching +OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:895 semapv:UnspecifiedMatching +OMIM:600821 AVPR1A skos:exactMatch hgnc.symbol:AVPR1A semapv:UnspecifiedMatching OMIM:600821 AVPR1A skos:exactMatch ncbigene:552 semapv:UnspecifiedMatching -OMIM:600822 TAF9 skos:exactMatch hgnc:TAF9 semapv:UnspecifiedMatching +OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:11542 semapv:UnspecifiedMatching +OMIM:600822 TAF9 skos:exactMatch hgnc.symbol:TAF9 semapv:UnspecifiedMatching OMIM:600822 TAF9 skos:exactMatch ncbigene:6880 semapv:UnspecifiedMatching -OMIM:600823 PRSS8 skos:exactMatch hgnc:PRSS8 semapv:UnspecifiedMatching +OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:9491 semapv:UnspecifiedMatching +OMIM:600823 PRSS8 skos:exactMatch hgnc.symbol:PRSS8 semapv:UnspecifiedMatching OMIM:600823 PRSS8 skos:exactMatch ncbigene:5652 semapv:UnspecifiedMatching -OMIM:600824 CSRP3 skos:exactMatch hgnc:CSRP3 semapv:UnspecifiedMatching +OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:2472 semapv:UnspecifiedMatching +OMIM:600824 CSRP3 skos:exactMatch hgnc.symbol:CSRP3 semapv:UnspecifiedMatching OMIM:600824 CSRP3 skos:exactMatch ncbigene:8048 semapv:UnspecifiedMatching -OMIM:600825 RORA skos:exactMatch hgnc:RORA semapv:UnspecifiedMatching +OMIM:600825 RORA skos:exactMatch hgnc.symbol:10258 semapv:UnspecifiedMatching +OMIM:600825 RORA skos:exactMatch hgnc.symbol:RORA semapv:UnspecifiedMatching OMIM:600825 RORA skos:exactMatch ncbigene:6095 semapv:UnspecifiedMatching -OMIM:600826 CSPG3 skos:exactMatch hgnc:NCAN semapv:UnspecifiedMatching +OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:2465 semapv:UnspecifiedMatching +OMIM:600826 CSPG3 skos:exactMatch hgnc.symbol:NCAN semapv:UnspecifiedMatching OMIM:600826 CSPG3 skos:exactMatch ncbigene:1463 semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch UMLS:C1418427 semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch UMLS:C2751308 semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch UMLS:C2751309 semapv:UnspecifiedMatching -OMIM:600827 PDE6C skos:exactMatch hgnc:PDE6C semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:8787 semapv:UnspecifiedMatching +OMIM:600827 PDE6C skos:exactMatch hgnc.symbol:PDE6C semapv:UnspecifiedMatching OMIM:600827 PDE6C skos:exactMatch ncbigene:5146 semapv:UnspecifiedMatching OMIM:600828 ATP5PO skos:exactMatch UMLS:C1412671 semapv:UnspecifiedMatching -OMIM:600828 ATP5PO skos:exactMatch hgnc:ATP5PO semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:850 semapv:UnspecifiedMatching +OMIM:600828 ATP5PO skos:exactMatch hgnc.symbol:ATP5PO semapv:UnspecifiedMatching OMIM:600828 ATP5PO skos:exactMatch ncbigene:539 semapv:UnspecifiedMatching -OMIM:600829 INPPL1 skos:exactMatch hgnc:INPPL1 semapv:UnspecifiedMatching +OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:6080 semapv:UnspecifiedMatching +OMIM:600829 INPPL1 skos:exactMatch hgnc.symbol:INPPL1 semapv:UnspecifiedMatching OMIM:600829 INPPL1 skos:exactMatch ncbigene:3636 semapv:UnspecifiedMatching -OMIM:600830 TRIM26 skos:exactMatch hgnc:TRIM26 semapv:UnspecifiedMatching +OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:12962 semapv:UnspecifiedMatching +OMIM:600830 TRIM26 skos:exactMatch hgnc.symbol:TRIM26 semapv:UnspecifiedMatching OMIM:600830 TRIM26 skos:exactMatch ncbigene:7726 semapv:UnspecifiedMatching -OMIM:600831 DAPK1 skos:exactMatch hgnc:DAPK1 semapv:UnspecifiedMatching +OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:2674 semapv:UnspecifiedMatching +OMIM:600831 DAPK1 skos:exactMatch hgnc.symbol:DAPK1 semapv:UnspecifiedMatching OMIM:600831 DAPK1 skos:exactMatch ncbigene:1612 semapv:UnspecifiedMatching -OMIM:600832 ANP32A skos:exactMatch hgnc:ANP32A semapv:UnspecifiedMatching +OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:13233 semapv:UnspecifiedMatching +OMIM:600832 ANP32A skos:exactMatch hgnc.symbol:ANP32A semapv:UnspecifiedMatching OMIM:600832 ANP32A skos:exactMatch ncbigene:8125 semapv:UnspecifiedMatching -OMIM:600833 ST7 skos:exactMatch hgnc:ST7 semapv:UnspecifiedMatching +OMIM:600833 ST7 skos:exactMatch hgnc.symbol:11351 semapv:UnspecifiedMatching +OMIM:600833 ST7 skos:exactMatch hgnc.symbol:ST7 semapv:UnspecifiedMatching OMIM:600833 ST7 skos:exactMatch ncbigene:7982 semapv:UnspecifiedMatching -OMIM:600834 ZNF165 skos:exactMatch hgnc:ZNF165 semapv:UnspecifiedMatching +OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:12953 semapv:UnspecifiedMatching +OMIM:600834 ZNF165 skos:exactMatch hgnc.symbol:ZNF165 semapv:UnspecifiedMatching OMIM:600834 ZNF165 skos:exactMatch ncbigene:7718 semapv:UnspecifiedMatching -OMIM:600835 CXCL12 skos:exactMatch hgnc:CXCL12 semapv:UnspecifiedMatching +OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:10672 semapv:UnspecifiedMatching +OMIM:600835 CXCL12 skos:exactMatch hgnc.symbol:CXCL12 semapv:UnspecifiedMatching OMIM:600835 CXCL12 skos:exactMatch ncbigene:6387 semapv:UnspecifiedMatching -OMIM:600836 CRYBA2 skos:exactMatch hgnc:CRYBA2 semapv:UnspecifiedMatching +OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:2395 semapv:UnspecifiedMatching +OMIM:600836 CRYBA2 skos:exactMatch hgnc.symbol:CRYBA2 semapv:UnspecifiedMatching OMIM:600836 CRYBA2 skos:exactMatch ncbigene:1412 semapv:UnspecifiedMatching -OMIM:600837 GDNF skos:exactMatch hgnc:GDNF semapv:UnspecifiedMatching +OMIM:600837 GDNF skos:exactMatch hgnc.symbol:4232 semapv:UnspecifiedMatching +OMIM:600837 GDNF skos:exactMatch hgnc.symbol:GDNF semapv:UnspecifiedMatching OMIM:600837 GDNF skos:exactMatch ncbigene:2668 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C1421504 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching @@ -10908,181 +14656,250 @@ OMIM:600838 FOXN1 skos:exactMatch UMLS:C2752083 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394567 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch UMLS:C5394592 semapv:UnspecifiedMatching -OMIM:600838 FOXN1 skos:exactMatch hgnc:FOXN1 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:12765 semapv:UnspecifiedMatching +OMIM:600838 FOXN1 skos:exactMatch hgnc.symbol:FOXN1 semapv:UnspecifiedMatching OMIM:600838 FOXN1 skos:exactMatch ncbigene:8456 semapv:UnspecifiedMatching -OMIM:600839 SLC12A1 skos:exactMatch hgnc:SLC12A1 semapv:UnspecifiedMatching +OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:10910 semapv:UnspecifiedMatching +OMIM:600839 SLC12A1 skos:exactMatch hgnc.symbol:SLC12A1 semapv:UnspecifiedMatching OMIM:600839 SLC12A1 skos:exactMatch ncbigene:6557 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C1420091 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching -OMIM:600840 SLC12A2 skos:exactMatch hgnc:SLC12A2 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:10911 semapv:UnspecifiedMatching +OMIM:600840 SLC12A2 skos:exactMatch hgnc.symbol:SLC12A2 semapv:UnspecifiedMatching OMIM:600840 SLC12A2 skos:exactMatch ncbigene:6558 semapv:UnspecifiedMatching OMIM:600842 GCKR skos:exactMatch UMLS:C1415015 semapv:UnspecifiedMatching OMIM:600842 GCKR skos:exactMatch UMLS:C3150714 semapv:UnspecifiedMatching -OMIM:600842 GCKR skos:exactMatch hgnc:GCKR semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch hgnc.symbol:4196 semapv:UnspecifiedMatching +OMIM:600842 GCKR skos:exactMatch hgnc.symbol:GCKR semapv:UnspecifiedMatching OMIM:600842 GCKR skos:exactMatch ncbigene:2646 semapv:UnspecifiedMatching -OMIM:600843 P2RX3 skos:exactMatch hgnc:P2RX3 semapv:UnspecifiedMatching +OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:8534 semapv:UnspecifiedMatching +OMIM:600843 P2RX3 skos:exactMatch hgnc.symbol:P2RX3 semapv:UnspecifiedMatching OMIM:600843 P2RX3 skos:exactMatch ncbigene:5024 semapv:UnspecifiedMatching -OMIM:600844 P2RX2 skos:exactMatch hgnc:P2RX2 semapv:UnspecifiedMatching +OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:15459 semapv:UnspecifiedMatching +OMIM:600844 P2RX2 skos:exactMatch hgnc.symbol:P2RX2 semapv:UnspecifiedMatching OMIM:600844 P2RX2 skos:exactMatch ncbigene:22953 semapv:UnspecifiedMatching -OMIM:600845 P2RX1 skos:exactMatch hgnc:P2RX1 semapv:UnspecifiedMatching +OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:8533 semapv:UnspecifiedMatching +OMIM:600845 P2RX1 skos:exactMatch hgnc.symbol:P2RX1 semapv:UnspecifiedMatching OMIM:600845 P2RX1 skos:exactMatch ncbigene:5023 semapv:UnspecifiedMatching -OMIM:600846 P2RX4 skos:exactMatch hgnc:P2RX4 semapv:UnspecifiedMatching +OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:8535 semapv:UnspecifiedMatching +OMIM:600846 P2RX4 skos:exactMatch hgnc.symbol:P2RX4 semapv:UnspecifiedMatching OMIM:600846 P2RX4 skos:exactMatch ncbigene:5025 semapv:UnspecifiedMatching -OMIM:600848 NCOR2 skos:exactMatch hgnc:NCOR2 semapv:UnspecifiedMatching +OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:7673 semapv:UnspecifiedMatching +OMIM:600848 NCOR2 skos:exactMatch hgnc.symbol:NCOR2 semapv:UnspecifiedMatching OMIM:600848 NCOR2 skos:exactMatch ncbigene:9612 semapv:UnspecifiedMatching -OMIM:600849 NCOR1 skos:exactMatch hgnc:NCOR1 semapv:UnspecifiedMatching +OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:7672 semapv:UnspecifiedMatching +OMIM:600849 NCOR1 skos:exactMatch hgnc.symbol:NCOR1 semapv:UnspecifiedMatching OMIM:600849 NCOR1 skos:exactMatch ncbigene:9611 semapv:UnspecifiedMatching -OMIM:600853 NDST1 skos:exactMatch hgnc:NDST1 semapv:UnspecifiedMatching +OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:7680 semapv:UnspecifiedMatching +OMIM:600853 NDST1 skos:exactMatch hgnc.symbol:NDST1 semapv:UnspecifiedMatching OMIM:600853 NDST1 skos:exactMatch ncbigene:3340 semapv:UnspecifiedMatching OMIM:600855 DYRK1A skos:exactMatch UMLS:C1414204 semapv:UnspecifiedMatching OMIM:600855 DYRK1A skos:exactMatch UMLS:C3279839 semapv:UnspecifiedMatching -OMIM:600855 DYRK1A skos:exactMatch hgnc:DYRK1A semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:3091 semapv:UnspecifiedMatching +OMIM:600855 DYRK1A skos:exactMatch hgnc.symbol:DYRK1A semapv:UnspecifiedMatching OMIM:600855 DYRK1A skos:exactMatch ncbigene:1859 semapv:UnspecifiedMatching -OMIM:600856 CDKN1C skos:exactMatch hgnc:CDKN1C semapv:UnspecifiedMatching +OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:1786 semapv:UnspecifiedMatching +OMIM:600856 CDKN1C skos:exactMatch hgnc.symbol:CDKN1C semapv:UnspecifiedMatching OMIM:600856 CDKN1C skos:exactMatch ncbigene:1028 semapv:UnspecifiedMatching -OMIM:600857 SDHA skos:exactMatch hgnc:SDHA semapv:UnspecifiedMatching +OMIM:600857 SDHA skos:exactMatch hgnc.symbol:10680 semapv:UnspecifiedMatching +OMIM:600857 SDHA skos:exactMatch hgnc.symbol:SDHA semapv:UnspecifiedMatching OMIM:600857 SDHA skos:exactMatch ncbigene:6389 semapv:UnspecifiedMatching OMIM:600858 cardiomyopathy, familial hypertrophic, 6 skos:exactMatch UMLS:C1833236 semapv:UnspecifiedMatching -OMIM:600859 AIMP2 skos:exactMatch hgnc:AIMP2 semapv:UnspecifiedMatching +OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:20609 semapv:UnspecifiedMatching +OMIM:600859 AIMP2 skos:exactMatch hgnc.symbol:AIMP2 semapv:UnspecifiedMatching OMIM:600859 AIMP2 skos:exactMatch ncbigene:7965 semapv:UnspecifiedMatching -OMIM:600860 GTF3A skos:exactMatch hgnc:GTF3A semapv:UnspecifiedMatching +OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:4662 semapv:UnspecifiedMatching +OMIM:600860 GTF3A skos:exactMatch hgnc.symbol:GTF3A semapv:UnspecifiedMatching OMIM:600860 GTF3A skos:exactMatch ncbigene:2971 semapv:UnspecifiedMatching -OMIM:600861 RGS2 skos:exactMatch hgnc:RGS2 semapv:UnspecifiedMatching +OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:9998 semapv:UnspecifiedMatching +OMIM:600861 RGS2 skos:exactMatch hgnc.symbol:RGS2 semapv:UnspecifiedMatching OMIM:600861 RGS2 skos:exactMatch ncbigene:5997 semapv:UnspecifiedMatching -OMIM:600862 AGFG1 skos:exactMatch hgnc:AGFG1 semapv:UnspecifiedMatching +OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:5175 semapv:UnspecifiedMatching +OMIM:600862 AGFG1 skos:exactMatch hgnc.symbol:AGFG1 semapv:UnspecifiedMatching OMIM:600862 AGFG1 skos:exactMatch ncbigene:3267 semapv:UnspecifiedMatching -OMIM:600863 CSNK1E skos:exactMatch hgnc:CSNK1E semapv:UnspecifiedMatching +OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:2453 semapv:UnspecifiedMatching +OMIM:600863 CSNK1E skos:exactMatch hgnc.symbol:CSNK1E semapv:UnspecifiedMatching OMIM:600863 CSNK1E skos:exactMatch ncbigene:1454 semapv:UnspecifiedMatching -OMIM:600864 CSNK1D skos:exactMatch hgnc:CSNK1D semapv:UnspecifiedMatching +OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:2452 semapv:UnspecifiedMatching +OMIM:600864 CSNK1D skos:exactMatch hgnc.symbol:CSNK1D semapv:UnspecifiedMatching OMIM:600864 CSNK1D skos:exactMatch ncbigene:1453 semapv:UnspecifiedMatching -OMIM:600865 RTN1 skos:exactMatch hgnc:RTN1 semapv:UnspecifiedMatching +OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:10467 semapv:UnspecifiedMatching +OMIM:600865 RTN1 skos:exactMatch hgnc.symbol:RTN1 semapv:UnspecifiedMatching OMIM:600865 RTN1 skos:exactMatch ncbigene:6252 semapv:UnspecifiedMatching -OMIM:600866 PDCD2 skos:exactMatch hgnc:PDCD2 semapv:UnspecifiedMatching +OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:8762 semapv:UnspecifiedMatching +OMIM:600866 PDCD2 skos:exactMatch hgnc.symbol:PDCD2 semapv:UnspecifiedMatching OMIM:600866 PDCD2 skos:exactMatch ncbigene:5134 semapv:UnspecifiedMatching -OMIM:600867 SSR2 skos:exactMatch hgnc:SSR2 semapv:UnspecifiedMatching +OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:11324 semapv:UnspecifiedMatching +OMIM:600867 SSR2 skos:exactMatch hgnc.symbol:SSR2 semapv:UnspecifiedMatching OMIM:600867 SSR2 skos:exactMatch ncbigene:6746 semapv:UnspecifiedMatching -OMIM:600868 SSR1 skos:exactMatch hgnc:SSR1 semapv:UnspecifiedMatching +OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:11323 semapv:UnspecifiedMatching +OMIM:600868 SSR1 skos:exactMatch hgnc.symbol:SSR1 semapv:UnspecifiedMatching OMIM:600868 SSR1 skos:exactMatch ncbigene:6745 semapv:UnspecifiedMatching -OMIM:600869 GRK6 skos:exactMatch hgnc:GRK6 semapv:UnspecifiedMatching +OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:4545 semapv:UnspecifiedMatching +OMIM:600869 GRK6 skos:exactMatch hgnc.symbol:GRK6 semapv:UnspecifiedMatching OMIM:600869 GRK6 skos:exactMatch ncbigene:2870 semapv:UnspecifiedMatching -OMIM:600870 GRK5 skos:exactMatch hgnc:GRK5 semapv:UnspecifiedMatching +OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:4544 semapv:UnspecifiedMatching +OMIM:600870 GRK5 skos:exactMatch hgnc.symbol:GRK5 semapv:UnspecifiedMatching OMIM:600870 GRK5 skos:exactMatch ncbigene:2869 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch UMLS:C1415044 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching -OMIM:600871 GFI1 skos:exactMatch hgnc:GFI1 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:4237 semapv:UnspecifiedMatching +OMIM:600871 GFI1 skos:exactMatch hgnc.symbol:GFI1 semapv:UnspecifiedMatching OMIM:600871 GFI1 skos:exactMatch ncbigene:2672 semapv:UnspecifiedMatching -OMIM:600873 CTBS skos:exactMatch hgnc:CTBS semapv:UnspecifiedMatching +OMIM:600873 CTBS skos:exactMatch hgnc.symbol:2496 semapv:UnspecifiedMatching +OMIM:600873 CTBS skos:exactMatch hgnc.symbol:CTBS semapv:UnspecifiedMatching OMIM:600873 CTBS skos:exactMatch ncbigene:1486 semapv:UnspecifiedMatching -OMIM:600874 GNG5 skos:exactMatch hgnc:GNG5 semapv:UnspecifiedMatching +OMIM:600874 GNG5 skos:exactMatch hgnc.symbol:4408 semapv:UnspecifiedMatching +OMIM:600874 GNG5 skos:exactMatch hgnc.symbol:GNG5 semapv:UnspecifiedMatching OMIM:600874 GNG5 skos:exactMatch ncbigene:2787 semapv:UnspecifiedMatching -OMIM:600875 ACYP1 skos:exactMatch hgnc:ACYP1 semapv:UnspecifiedMatching +OMIM:600875 ACYP1 skos:exactMatch hgnc.symbol:179 semapv:UnspecifiedMatching +OMIM:600875 ACYP1 skos:exactMatch hgnc.symbol:ACYP1 semapv:UnspecifiedMatching OMIM:600875 ACYP1 skos:exactMatch ncbigene:97 semapv:UnspecifiedMatching -OMIM:600876 STX3 skos:exactMatch hgnc:STX3 semapv:UnspecifiedMatching +OMIM:600876 STX3 skos:exactMatch hgnc.symbol:11438 semapv:UnspecifiedMatching +OMIM:600876 STX3 skos:exactMatch hgnc.symbol:STX3 semapv:UnspecifiedMatching OMIM:600876 STX3 skos:exactMatch ncbigene:6809 semapv:UnspecifiedMatching -OMIM:600877 KCNJ6 skos:exactMatch hgnc:KCNJ6 semapv:UnspecifiedMatching +OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:6267 semapv:UnspecifiedMatching +OMIM:600877 KCNJ6 skos:exactMatch hgnc.symbol:KCNJ6 semapv:UnspecifiedMatching OMIM:600877 KCNJ6 skos:exactMatch ncbigene:3763 semapv:UnspecifiedMatching -OMIM:600879 NRF1 skos:exactMatch hgnc:NRF1 semapv:UnspecifiedMatching +OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:7996 semapv:UnspecifiedMatching +OMIM:600879 NRF1 skos:exactMatch hgnc.symbol:NRF1 semapv:UnspecifiedMatching OMIM:600879 NRF1 skos:exactMatch ncbigene:4899 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:441452 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98985 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98991 semapv:UnspecifiedMatching +OMIM:600881 cataract 10, multiple types skos:exactMatch Orphanet:98993 semapv:UnspecifiedMatching OMIM:600881 cataract 10, multiple types skos:exactMatch UMLS:C1833229 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch orphanet.ordo:441452 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch orphanet.ordo:98985 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch orphanet.ordo:98991 semapv:UnspecifiedMatching -OMIM:600881 cataract 10, multiple types skos:exactMatch orphanet.ordo:98993 semapv:UnspecifiedMatching OMIM:600883 iia 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching -OMIM:600887 MSH3 skos:exactMatch hgnc:MSH3 semapv:UnspecifiedMatching +OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:7326 semapv:UnspecifiedMatching +OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:MSH3 semapv:UnspecifiedMatching OMIM:600887 MSH3 skos:exactMatch ncbigene:4437 semapv:UnspecifiedMatching -OMIM:600888 ARHGEF5 skos:exactMatch hgnc:ARHGEF5 semapv:UnspecifiedMatching +OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:13209 semapv:UnspecifiedMatching +OMIM:600888 ARHGEF5 skos:exactMatch hgnc.symbol:ARHGEF5 semapv:UnspecifiedMatching OMIM:600888 ARHGEF5 skos:exactMatch ncbigene:7984 semapv:UnspecifiedMatching -OMIM:600889 CFHR2 skos:exactMatch hgnc:CFHR2 semapv:UnspecifiedMatching +OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:4890 semapv:UnspecifiedMatching +OMIM:600889 CFHR2 skos:exactMatch hgnc.symbol:CFHR2 semapv:UnspecifiedMatching OMIM:600889 CFHR2 skos:exactMatch ncbigene:3080 semapv:UnspecifiedMatching -OMIM:600890 HADHA skos:exactMatch hgnc:HADHA semapv:UnspecifiedMatching +OMIM:600890 HADHA skos:exactMatch hgnc.symbol:4801 semapv:UnspecifiedMatching +OMIM:600890 HADHA skos:exactMatch hgnc.symbol:HADHA semapv:UnspecifiedMatching OMIM:600890 HADHA skos:exactMatch ncbigene:3030 semapv:UnspecifiedMatching OMIM:600892 SIM2 skos:exactMatch UMLS:C1420068 semapv:UnspecifiedMatching -OMIM:600892 SIM2 skos:exactMatch hgnc:SIM2 semapv:UnspecifiedMatching +OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:10883 semapv:UnspecifiedMatching +OMIM:600892 SIM2 skos:exactMatch hgnc.symbol:SIM2 semapv:UnspecifiedMatching OMIM:600892 SIM2 skos:exactMatch ncbigene:6493 semapv:UnspecifiedMatching -OMIM:600895 PRLHR skos:exactMatch hgnc:PRLHR semapv:UnspecifiedMatching +OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:4464 semapv:UnspecifiedMatching +OMIM:600895 PRLHR skos:exactMatch hgnc.symbol:PRLHR semapv:UnspecifiedMatching OMIM:600895 PRLHR skos:exactMatch ncbigene:2834 semapv:UnspecifiedMatching -OMIM:600896 GPR14 skos:exactMatch hgnc:UTS2R semapv:UnspecifiedMatching +OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:4468 semapv:UnspecifiedMatching +OMIM:600896 GPR14 skos:exactMatch hgnc.symbol:UTS2R semapv:UnspecifiedMatching OMIM:600896 GPR14 skos:exactMatch ncbigene:2837 semapv:UnspecifiedMatching -OMIM:600897 GJA8 skos:exactMatch hgnc:GJA8 semapv:UnspecifiedMatching +OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:4281 semapv:UnspecifiedMatching +OMIM:600897 GJA8 skos:exactMatch hgnc.symbol:GJA8 semapv:UnspecifiedMatching OMIM:600897 GJA8 skos:exactMatch ncbigene:2703 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch UMLS:C1420318 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching -OMIM:600898 SOX11 skos:exactMatch hgnc:SOX11 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:11191 semapv:UnspecifiedMatching +OMIM:600898 SOX11 skos:exactMatch hgnc.symbol:SOX11 semapv:UnspecifiedMatching OMIM:600898 SOX11 skos:exactMatch ncbigene:6664 semapv:UnspecifiedMatching OMIM:600899 PRKDC skos:exactMatch UMLS:C1335262 semapv:UnspecifiedMatching OMIM:600899 PRKDC skos:exactMatch UMLS:C4016698 semapv:UnspecifiedMatching OMIM:600899 PRKDC skos:exactMatch UMLS:C4016699 semapv:UnspecifiedMatching -OMIM:600899 PRKDC skos:exactMatch hgnc:PRKDC semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:9413 semapv:UnspecifiedMatching +OMIM:600899 PRKDC skos:exactMatch hgnc.symbol:PRKDC semapv:UnspecifiedMatching OMIM:600899 PRKDC skos:exactMatch ncbigene:5591 semapv:UnspecifiedMatching -OMIM:600900 SGCB skos:exactMatch hgnc:SGCB semapv:UnspecifiedMatching +OMIM:600900 SGCB skos:exactMatch hgnc.symbol:10806 semapv:UnspecifiedMatching +OMIM:600900 SGCB skos:exactMatch hgnc.symbol:SGCB semapv:UnspecifiedMatching OMIM:600900 SGCB skos:exactMatch ncbigene:6443 semapv:UnspecifiedMatching -OMIM:600902 SEPHS1 skos:exactMatch hgnc:SEPHS1 semapv:UnspecifiedMatching +OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:19685 semapv:UnspecifiedMatching +OMIM:600902 SEPHS1 skos:exactMatch hgnc.symbol:SEPHS1 semapv:UnspecifiedMatching OMIM:600902 SEPHS1 skos:exactMatch ncbigene:22929 semapv:UnspecifiedMatching -OMIM:600904 ASTN1 skos:exactMatch hgnc:ASTN1 semapv:UnspecifiedMatching +OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:773 semapv:UnspecifiedMatching +OMIM:600904 ASTN1 skos:exactMatch hgnc.symbol:ASTN1 semapv:UnspecifiedMatching OMIM:600904 ASTN1 skos:exactMatch ncbigene:460 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C1416926 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C4225300 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching -OMIM:600909 LSS skos:exactMatch hgnc:LSS semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch hgnc.symbol:6708 semapv:UnspecifiedMatching +OMIM:600909 LSS skos:exactMatch hgnc.symbol:LSS semapv:UnspecifiedMatching OMIM:600909 LSS skos:exactMatch ncbigene:4047 semapv:UnspecifiedMatching -OMIM:600910 INSL4 skos:exactMatch hgnc:INSL4 semapv:UnspecifiedMatching +OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:6087 semapv:UnspecifiedMatching +OMIM:600910 INSL4 skos:exactMatch hgnc.symbol:INSL4 semapv:UnspecifiedMatching OMIM:600910 INSL4 skos:exactMatch ncbigene:3641 semapv:UnspecifiedMatching -OMIM:600911 MPPED2 skos:exactMatch hgnc:MPPED2 semapv:UnspecifiedMatching +OMIM:600911 MPPED2 skos:exactMatch hgnc.symbol:1180 semapv:UnspecifiedMatching +OMIM:600911 MPPED2 skos:exactMatch hgnc.symbol:MPPED2 semapv:UnspecifiedMatching OMIM:600911 MPPED2 skos:exactMatch ncbigene:744 semapv:UnspecifiedMatching -OMIM:600912 TCF19 skos:exactMatch hgnc:TCF19 semapv:UnspecifiedMatching +OMIM:600912 TCF19 skos:exactMatch hgnc.symbol:11629 semapv:UnspecifiedMatching +OMIM:600912 TCF19 skos:exactMatch hgnc.symbol:TCF19 semapv:UnspecifiedMatching OMIM:600912 TCF19 skos:exactMatch ncbigene:6941 semapv:UnspecifiedMatching -OMIM:600914 SRSF5 skos:exactMatch hgnc:SRSF5 semapv:UnspecifiedMatching +OMIM:600914 SRSF5 skos:exactMatch hgnc.symbol:10787 semapv:UnspecifiedMatching +OMIM:600914 SRSF5 skos:exactMatch hgnc.symbol:SRSF5 semapv:UnspecifiedMatching OMIM:600914 SRSF5 skos:exactMatch ncbigene:6430 semapv:UnspecifiedMatching -OMIM:600915 NES skos:exactMatch hgnc:NES semapv:UnspecifiedMatching +OMIM:600915 NES skos:exactMatch hgnc.symbol:7756 semapv:UnspecifiedMatching +OMIM:600915 NES skos:exactMatch hgnc.symbol:NES semapv:UnspecifiedMatching OMIM:600915 NES skos:exactMatch ncbigene:10763 semapv:UnspecifiedMatching -OMIM:600916 INPP4A skos:exactMatch hgnc:INPP4A semapv:UnspecifiedMatching +OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:6074 semapv:UnspecifiedMatching +OMIM:600916 INPP4A skos:exactMatch hgnc.symbol:INPP4A semapv:UnspecifiedMatching OMIM:600916 INPP4A skos:exactMatch ncbigene:3631 semapv:UnspecifiedMatching -OMIM:600917 PPP1R3A skos:exactMatch hgnc:PPP1R3A semapv:UnspecifiedMatching +OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:9291 semapv:UnspecifiedMatching +OMIM:600917 PPP1R3A skos:exactMatch hgnc.symbol:PPP1R3A semapv:UnspecifiedMatching OMIM:600917 PPP1R3A skos:exactMatch ncbigene:5506 semapv:UnspecifiedMatching OMIM:600921 FGF9 skos:exactMatch UMLS:C1333540 semapv:UnspecifiedMatching OMIM:600921 FGF9 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching -OMIM:600921 FGF9 skos:exactMatch hgnc:FGF9 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:3687 semapv:UnspecifiedMatching +OMIM:600921 FGF9 skos:exactMatch hgnc.symbol:FGF9 semapv:UnspecifiedMatching OMIM:600921 FGF9 skos:exactMatch ncbigene:2254 semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch UMLS:C1334539 semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch UMLS:C1608393 semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching -OMIM:600922 MYLK skos:exactMatch hgnc:MYLK semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch hgnc.symbol:7590 semapv:UnspecifiedMatching +OMIM:600922 MYLK skos:exactMatch hgnc.symbol:MYLK semapv:UnspecifiedMatching OMIM:600922 MYLK skos:exactMatch ncbigene:4638 semapv:UnspecifiedMatching -OMIM:600923 PPOX skos:exactMatch hgnc:PPOX semapv:UnspecifiedMatching +OMIM:600923 PPOX skos:exactMatch hgnc.symbol:9280 semapv:UnspecifiedMatching +OMIM:600923 PPOX skos:exactMatch hgnc.symbol:PPOX semapv:UnspecifiedMatching OMIM:600923 PPOX skos:exactMatch ncbigene:5498 semapv:UnspecifiedMatching OMIM:600924 GFER skos:exactMatch UMLS:C1415043 semapv:UnspecifiedMatching OMIM:600924 GFER skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching -OMIM:600924 GFER skos:exactMatch hgnc:GFER semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch hgnc.symbol:4236 semapv:UnspecifiedMatching +OMIM:600924 GFER skos:exactMatch hgnc.symbol:GFER semapv:UnspecifiedMatching OMIM:600924 GFER skos:exactMatch ncbigene:2671 semapv:UnspecifiedMatching OMIM:600925 PTPRJ skos:exactMatch UMLS:C1335288 semapv:UnspecifiedMatching OMIM:600925 PTPRJ skos:exactMatch UMLS:C3276201 semapv:UnspecifiedMatching -OMIM:600925 PTPRJ skos:exactMatch hgnc:PTPRJ semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch hgnc.symbol:9673 semapv:UnspecifiedMatching +OMIM:600925 PTPRJ skos:exactMatch hgnc.symbol:PTPRJ semapv:UnspecifiedMatching OMIM:600925 PTPRJ skos:exactMatch ncbigene:5795 semapv:UnspecifiedMatching -OMIM:600926 PTPRE skos:exactMatch hgnc:PTPRE semapv:UnspecifiedMatching +OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:9669 semapv:UnspecifiedMatching +OMIM:600926 PTPRE skos:exactMatch hgnc.symbol:PTPRE semapv:UnspecifiedMatching OMIM:600926 PTPRE skos:exactMatch ncbigene:5791 semapv:UnspecifiedMatching -OMIM:600927 CDKN2D skos:exactMatch hgnc:CDKN2D semapv:UnspecifiedMatching +OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:1790 semapv:UnspecifiedMatching +OMIM:600927 CDKN2D skos:exactMatch hgnc.symbol:CDKN2D semapv:UnspecifiedMatching OMIM:600927 CDKN2D skos:exactMatch ncbigene:1032 semapv:UnspecifiedMatching -OMIM:600928 NPRL3 skos:exactMatch hgnc:NPRL3 semapv:UnspecifiedMatching +OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:14124 semapv:UnspecifiedMatching +OMIM:600928 NPRL3 skos:exactMatch hgnc.symbol:NPRL3 semapv:UnspecifiedMatching OMIM:600928 NPRL3 skos:exactMatch ncbigene:8131 semapv:UnspecifiedMatching -OMIM:600929 CRYBB1 skos:exactMatch hgnc:CRYBB1 semapv:UnspecifiedMatching +OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:2397 semapv:UnspecifiedMatching +OMIM:600929 CRYBB1 skos:exactMatch hgnc.symbol:CRYBB1 semapv:UnspecifiedMatching OMIM:600929 CRYBB1 skos:exactMatch ncbigene:1414 semapv:UnspecifiedMatching -OMIM:600930 SPAM1 skos:exactMatch hgnc:SPAM1 semapv:UnspecifiedMatching +OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:11217 semapv:UnspecifiedMatching +OMIM:600930 SPAM1 skos:exactMatch hgnc.symbol:SPAM1 semapv:UnspecifiedMatching OMIM:600930 SPAM1 skos:exactMatch ncbigene:6677 semapv:UnspecifiedMatching -OMIM:600932 KCNJ9 skos:exactMatch hgnc:KCNJ9 semapv:UnspecifiedMatching +OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:6270 semapv:UnspecifiedMatching +OMIM:600932 KCNJ9 skos:exactMatch hgnc.symbol:KCNJ9 semapv:UnspecifiedMatching OMIM:600932 KCNJ9 skos:exactMatch ncbigene:3765 semapv:UnspecifiedMatching -OMIM:600933 F2RL1 skos:exactMatch hgnc:F2RL1 semapv:UnspecifiedMatching +OMIM:600933 F2RL1 skos:exactMatch hgnc.symbol:3538 semapv:UnspecifiedMatching +OMIM:600933 F2RL1 skos:exactMatch hgnc.symbol:F2RL1 semapv:UnspecifiedMatching OMIM:600933 F2RL1 skos:exactMatch ncbigene:2150 semapv:UnspecifiedMatching -OMIM:600934 FOLH1 skos:exactMatch hgnc:FOLH1 semapv:UnspecifiedMatching +OMIM:600934 FOLH1 skos:exactMatch hgnc.symbol:3788 semapv:UnspecifiedMatching +OMIM:600934 FOLH1 skos:exactMatch hgnc.symbol:FOLH1 semapv:UnspecifiedMatching OMIM:600934 FOLH1 skos:exactMatch ncbigene:2346 semapv:UnspecifiedMatching -OMIM:600935 KCNJ8 skos:exactMatch hgnc:KCNJ8 semapv:UnspecifiedMatching +OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:6269 semapv:UnspecifiedMatching +OMIM:600935 KCNJ8 skos:exactMatch hgnc.symbol:KCNJ8 semapv:UnspecifiedMatching OMIM:600935 KCNJ8 skos:exactMatch ncbigene:3764 semapv:UnspecifiedMatching -OMIM:600936 HMMR skos:exactMatch hgnc:HMMR semapv:UnspecifiedMatching +OMIM:600936 HMMR skos:exactMatch hgnc.symbol:5012 semapv:UnspecifiedMatching +OMIM:600936 HMMR skos:exactMatch hgnc.symbol:HMMR semapv:UnspecifiedMatching OMIM:600936 HMMR skos:exactMatch ncbigene:3161 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1416578 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching @@ -11092,21 +14909,29 @@ OMIM:600937 KCNJ11 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C4225365 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch UMLS:C5394568 semapv:UnspecifiedMatching -OMIM:600937 KCNJ11 skos:exactMatch hgnc:KCNJ11 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:6257 semapv:UnspecifiedMatching +OMIM:600937 KCNJ11 skos:exactMatch hgnc.symbol:KCNJ11 semapv:UnspecifiedMatching OMIM:600937 KCNJ11 skos:exactMatch ncbigene:3767 semapv:UnspecifiedMatching -OMIM:600938 RBBP6 skos:exactMatch hgnc:RBBP6 semapv:UnspecifiedMatching +OMIM:600938 RBBP6 skos:exactMatch hgnc.symbol:9889 semapv:UnspecifiedMatching +OMIM:600938 RBBP6 skos:exactMatch hgnc.symbol:RBBP6 semapv:UnspecifiedMatching OMIM:600938 RBBP6 skos:exactMatch ncbigene:5930 semapv:UnspecifiedMatching -OMIM:600939 IL11RA skos:exactMatch hgnc:IL11RA semapv:UnspecifiedMatching +OMIM:600939 IL11RA skos:exactMatch hgnc.symbol:5967 semapv:UnspecifiedMatching +OMIM:600939 IL11RA skos:exactMatch hgnc.symbol:IL11RA semapv:UnspecifiedMatching OMIM:600939 IL11RA skos:exactMatch ncbigene:3590 semapv:UnspecifiedMatching -OMIM:600940 LIG3 skos:exactMatch hgnc:LIG3 semapv:UnspecifiedMatching +OMIM:600940 LIG3 skos:exactMatch hgnc.symbol:6600 semapv:UnspecifiedMatching +OMIM:600940 LIG3 skos:exactMatch hgnc.symbol:LIG3 semapv:UnspecifiedMatching OMIM:600940 LIG3 skos:exactMatch ncbigene:3980 semapv:UnspecifiedMatching -OMIM:600941 BLVRB skos:exactMatch hgnc:BLVRB semapv:UnspecifiedMatching +OMIM:600941 BLVRB skos:exactMatch hgnc.symbol:1063 semapv:UnspecifiedMatching +OMIM:600941 BLVRB skos:exactMatch hgnc.symbol:BLVRB semapv:UnspecifiedMatching OMIM:600941 BLVRB skos:exactMatch ncbigene:645 semapv:UnspecifiedMatching -OMIM:600943 SERPINH1 skos:exactMatch hgnc:SERPINH1 semapv:UnspecifiedMatching +OMIM:600943 SERPINH1 skos:exactMatch hgnc.symbol:1546 semapv:UnspecifiedMatching +OMIM:600943 SERPINH1 skos:exactMatch hgnc.symbol:SERPINH1 semapv:UnspecifiedMatching OMIM:600943 SERPINH1 skos:exactMatch ncbigene:871 semapv:UnspecifiedMatching -OMIM:600944 DHPS skos:exactMatch hgnc:DHPS semapv:UnspecifiedMatching +OMIM:600944 DHPS skos:exactMatch hgnc.symbol:2869 semapv:UnspecifiedMatching +OMIM:600944 DHPS skos:exactMatch hgnc.symbol:DHPS semapv:UnspecifiedMatching OMIM:600944 DHPS skos:exactMatch ncbigene:1725 semapv:UnspecifiedMatching -OMIM:600945 UCN skos:exactMatch hgnc:UCN semapv:UnspecifiedMatching +OMIM:600945 UCN skos:exactMatch hgnc.symbol:12516 semapv:UnspecifiedMatching +OMIM:600945 UCN skos:exactMatch hgnc.symbol:UCN semapv:UnspecifiedMatching OMIM:600945 UCN skos:exactMatch ncbigene:7349 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C0271568 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C1415063 semapv:UnspecifiedMatching @@ -11115,64 +14940,92 @@ OMIM:600946 GHR skos:exactMatch UMLS:C3888131 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C4016705 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C4016706 semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch UMLS:C4016707 semapv:UnspecifiedMatching -OMIM:600946 GHR skos:exactMatch hgnc:GHR semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch hgnc.symbol:4263 semapv:UnspecifiedMatching +OMIM:600946 GHR skos:exactMatch hgnc.symbol:GHR semapv:UnspecifiedMatching OMIM:600946 GHR skos:exactMatch ncbigene:2690 semapv:UnspecifiedMatching -OMIM:600947 HAP1 skos:exactMatch hgnc:HAP1 semapv:UnspecifiedMatching +OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:4812 semapv:UnspecifiedMatching +OMIM:600947 HAP1 skos:exactMatch hgnc.symbol:HAP1 semapv:UnspecifiedMatching OMIM:600947 HAP1 skos:exactMatch ncbigene:9001 semapv:UnspecifiedMatching -OMIM:600948 MOBP skos:exactMatch hgnc:MOBP semapv:UnspecifiedMatching +OMIM:600948 MOBP skos:exactMatch hgnc.symbol:7189 semapv:UnspecifiedMatching +OMIM:600948 MOBP skos:exactMatch hgnc.symbol:MOBP semapv:UnspecifiedMatching OMIM:600948 MOBP skos:exactMatch ncbigene:4336 semapv:UnspecifiedMatching -OMIM:600950 AANAT skos:exactMatch hgnc:AANAT semapv:UnspecifiedMatching +OMIM:600950 AANAT skos:exactMatch hgnc.symbol:19 semapv:UnspecifiedMatching +OMIM:600950 AANAT skos:exactMatch hgnc.symbol:AANAT semapv:UnspecifiedMatching OMIM:600950 AANAT skos:exactMatch ncbigene:15 semapv:UnspecifiedMatching -OMIM:600951 TERF1 skos:exactMatch hgnc:TERF1 semapv:UnspecifiedMatching +OMIM:600951 TERF1 skos:exactMatch hgnc.symbol:11728 semapv:UnspecifiedMatching +OMIM:600951 TERF1 skos:exactMatch hgnc.symbol:TERF1 semapv:UnspecifiedMatching OMIM:600951 TERF1 skos:exactMatch ncbigene:7013 semapv:UnspecifiedMatching OMIM:600953 IL18 skos:exactMatch UMLS:C1334109 semapv:UnspecifiedMatching -OMIM:600953 IL18 skos:exactMatch hgnc:IL18 semapv:UnspecifiedMatching +OMIM:600953 IL18 skos:exactMatch hgnc.symbol:5986 semapv:UnspecifiedMatching +OMIM:600953 IL18 skos:exactMatch hgnc.symbol:IL18 semapv:UnspecifiedMatching OMIM:600953 IL18 skos:exactMatch ncbigene:3606 semapv:UnspecifiedMatching -OMIM:600954 DAP skos:exactMatch hgnc:DAP semapv:UnspecifiedMatching +OMIM:600954 DAP skos:exactMatch hgnc.symbol:2672 semapv:UnspecifiedMatching +OMIM:600954 DAP skos:exactMatch hgnc.symbol:DAP semapv:UnspecifiedMatching OMIM:600954 DAP skos:exactMatch ncbigene:1611 semapv:UnspecifiedMatching -OMIM:600956 AMHR2 skos:exactMatch hgnc:AMHR2 semapv:UnspecifiedMatching +OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:465 semapv:UnspecifiedMatching +OMIM:600956 AMHR2 skos:exactMatch hgnc.symbol:AMHR2 semapv:UnspecifiedMatching OMIM:600956 AMHR2 skos:exactMatch ncbigene:269 semapv:UnspecifiedMatching -OMIM:600957 AMH skos:exactMatch hgnc:AMH semapv:UnspecifiedMatching +OMIM:600957 AMH skos:exactMatch hgnc.symbol:464 semapv:UnspecifiedMatching +OMIM:600957 AMH skos:exactMatch hgnc.symbol:AMH semapv:UnspecifiedMatching OMIM:600957 AMH skos:exactMatch ncbigene:268 semapv:UnspecifiedMatching -OMIM:600958 MYBPC3 skos:exactMatch hgnc:MYBPC3 semapv:UnspecifiedMatching +OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:7551 semapv:UnspecifiedMatching +OMIM:600958 MYBPC3 skos:exactMatch hgnc.symbol:MYBPC3 semapv:UnspecifiedMatching OMIM:600958 MYBPC3 skos:exactMatch ncbigene:4607 semapv:UnspecifiedMatching -OMIM:600959 COPB1 skos:exactMatch hgnc:COPB1 semapv:UnspecifiedMatching +OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:2231 semapv:UnspecifiedMatching +OMIM:600959 COPB1 skos:exactMatch hgnc.symbol:COPB1 semapv:UnspecifiedMatching OMIM:600959 COPB1 skos:exactMatch ncbigene:1315 semapv:UnspecifiedMatching -OMIM:600960 SET skos:exactMatch hgnc:SET semapv:UnspecifiedMatching +OMIM:600960 SET skos:exactMatch hgnc.symbol:10760 semapv:UnspecifiedMatching +OMIM:600960 SET skos:exactMatch hgnc.symbol:SET semapv:UnspecifiedMatching OMIM:600960 SET skos:exactMatch ncbigene:6418 semapv:UnspecifiedMatching -OMIM:600963 SIX5 skos:exactMatch hgnc:SIX5 semapv:UnspecifiedMatching +OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:10891 semapv:UnspecifiedMatching +OMIM:600963 SIX5 skos:exactMatch hgnc.symbol:SIX5 semapv:UnspecifiedMatching OMIM:600963 SIX5 skos:exactMatch ncbigene:147912 semapv:UnspecifiedMatching -OMIM:600966 LLGL1 skos:exactMatch hgnc:LLGL1 semapv:UnspecifiedMatching +OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:6628 semapv:UnspecifiedMatching +OMIM:600966 LLGL1 skos:exactMatch hgnc.symbol:LLGL1 semapv:UnspecifiedMatching OMIM:600966 LLGL1 skos:exactMatch ncbigene:3996 semapv:UnspecifiedMatching -OMIM:600967 E2F5 skos:exactMatch hgnc:E2F5 semapv:UnspecifiedMatching +OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:3119 semapv:UnspecifiedMatching +OMIM:600967 E2F5 skos:exactMatch hgnc.symbol:E2F5 semapv:UnspecifiedMatching OMIM:600967 E2F5 skos:exactMatch ncbigene:1875 semapv:UnspecifiedMatching -OMIM:600968 SLC12A3 skos:exactMatch hgnc:SLC12A3 semapv:UnspecifiedMatching +OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:10912 semapv:UnspecifiedMatching +OMIM:600968 SLC12A3 skos:exactMatch hgnc.symbol:SLC12A3 semapv:UnspecifiedMatching OMIM:600968 SLC12A3 skos:exactMatch ncbigene:6559 semapv:UnspecifiedMatching -OMIM:600970 MYO6 skos:exactMatch hgnc:MYO6 semapv:UnspecifiedMatching +OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:7605 semapv:UnspecifiedMatching +OMIM:600970 MYO6 skos:exactMatch hgnc.symbol:MYO6 semapv:UnspecifiedMatching OMIM:600970 MYO6 skos:exactMatch ncbigene:4646 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch UMLS:C0812278 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:600976 FAT1 skos:exactMatch hgnc:FAT1 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:3595 semapv:UnspecifiedMatching +OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:FAT1 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch ncbigene:2195 semapv:UnspecifiedMatching -OMIM:600978 LTB skos:exactMatch hgnc:LTB semapv:UnspecifiedMatching +OMIM:600978 LTB skos:exactMatch hgnc.symbol:6711 semapv:UnspecifiedMatching +OMIM:600978 LTB skos:exactMatch hgnc.symbol:LTB semapv:UnspecifiedMatching OMIM:600978 LTB skos:exactMatch ncbigene:4050 semapv:UnspecifiedMatching -OMIM:600979 LTBR skos:exactMatch hgnc:LTBR semapv:UnspecifiedMatching +OMIM:600979 LTBR skos:exactMatch hgnc.symbol:6718 semapv:UnspecifiedMatching +OMIM:600979 LTBR skos:exactMatch hgnc.symbol:LTBR semapv:UnspecifiedMatching OMIM:600979 LTBR skos:exactMatch ncbigene:4055 semapv:UnspecifiedMatching -OMIM:600980 DMP1 skos:exactMatch hgnc:DMP1 semapv:UnspecifiedMatching +OMIM:600980 DMP1 skos:exactMatch hgnc.symbol:2932 semapv:UnspecifiedMatching +OMIM:600980 DMP1 skos:exactMatch hgnc.symbol:DMP1 semapv:UnspecifiedMatching OMIM:600980 DMP1 skos:exactMatch ncbigene:1758 semapv:UnspecifiedMatching -OMIM:600981 PGM5 skos:exactMatch hgnc:PGM5 semapv:UnspecifiedMatching +OMIM:600981 PGM5 skos:exactMatch hgnc.symbol:8908 semapv:UnspecifiedMatching +OMIM:600981 PGM5 skos:exactMatch hgnc.symbol:PGM5 semapv:UnspecifiedMatching OMIM:600981 PGM5 skos:exactMatch ncbigene:5239 semapv:UnspecifiedMatching -OMIM:600982 MAP3K1 skos:exactMatch hgnc:MAP3K1 semapv:UnspecifiedMatching +OMIM:600982 MAP3K1 skos:exactMatch hgnc.symbol:6848 semapv:UnspecifiedMatching +OMIM:600982 MAP3K1 skos:exactMatch hgnc.symbol:MAP3K1 semapv:UnspecifiedMatching OMIM:600982 MAP3K1 skos:exactMatch ncbigene:4214 semapv:UnspecifiedMatching -OMIM:600983 NR3C2 skos:exactMatch hgnc:NR3C2 semapv:UnspecifiedMatching +OMIM:600983 NR3C2 skos:exactMatch hgnc.symbol:7979 semapv:UnspecifiedMatching +OMIM:600983 NR3C2 skos:exactMatch hgnc.symbol:NR3C2 semapv:UnspecifiedMatching OMIM:600983 NR3C2 skos:exactMatch ncbigene:4306 semapv:UnspecifiedMatching -OMIM:600984 ATF6B skos:exactMatch hgnc:ATF6B semapv:UnspecifiedMatching +OMIM:600984 ATF6B skos:exactMatch hgnc.symbol:2349 semapv:UnspecifiedMatching +OMIM:600984 ATF6B skos:exactMatch hgnc.symbol:ATF6B semapv:UnspecifiedMatching OMIM:600984 ATF6B skos:exactMatch ncbigene:1388 semapv:UnspecifiedMatching -OMIM:600985 TNXB skos:exactMatch hgnc:TNXB semapv:UnspecifiedMatching +OMIM:600985 TNXB skos:exactMatch hgnc.symbol:11976 semapv:UnspecifiedMatching +OMIM:600985 TNXB skos:exactMatch hgnc.symbol:TNXB semapv:UnspecifiedMatching OMIM:600985 TNXB skos:exactMatch ncbigene:7148 semapv:UnspecifiedMatching -OMIM:600986 TRIM46 skos:exactMatch hgnc:TRIM46 semapv:UnspecifiedMatching +OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:19019 semapv:UnspecifiedMatching +OMIM:600986 TRIM46 skos:exactMatch hgnc.symbol:TRIM46 semapv:UnspecifiedMatching OMIM:600986 TRIM46 skos:exactMatch ncbigene:80128 semapv:UnspecifiedMatching -OMIM:600988 MAN2A2 skos:exactMatch hgnc:MAN2A2 semapv:UnspecifiedMatching +OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:6825 semapv:UnspecifiedMatching +OMIM:600988 MAN2A2 skos:exactMatch hgnc.symbol:MAN2A2 semapv:UnspecifiedMatching OMIM:600988 MAN2A2 skos:exactMatch ncbigene:4122 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C0345893 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C0694891 semapv:UnspecifiedMatching @@ -11180,25 +15033,33 @@ OMIM:600993 SMAD4 skos:exactMatch UMLS:C0796081 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832940 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C1832942 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch UMLS:C3836560 semapv:UnspecifiedMatching -OMIM:600993 SMAD4 skos:exactMatch hgnc:SMAD4 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:6770 semapv:UnspecifiedMatching +OMIM:600993 SMAD4 skos:exactMatch hgnc.symbol:SMAD4 semapv:UnspecifiedMatching OMIM:600993 SMAD4 skos:exactMatch ncbigene:4089 semapv:UnspecifiedMatching -OMIM:600997 EPHB2 skos:exactMatch hgnc:EPHB2 semapv:UnspecifiedMatching +OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:3393 semapv:UnspecifiedMatching +OMIM:600997 EPHB2 skos:exactMatch hgnc.symbol:EPHB2 semapv:UnspecifiedMatching OMIM:600997 EPHB2 skos:exactMatch ncbigene:2048 semapv:UnspecifiedMatching OMIM:600998 GNAQ skos:exactMatch UMLS:C1333685 semapv:UnspecifiedMatching OMIM:600998 GNAQ skos:exactMatch UMLS:C3806954 semapv:UnspecifiedMatching OMIM:600998 GNAQ skos:exactMatch UMLS:C4016711 semapv:UnspecifiedMatching -OMIM:600998 GNAQ skos:exactMatch hgnc:GNAQ semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:4390 semapv:UnspecifiedMatching +OMIM:600998 GNAQ skos:exactMatch hgnc.symbol:GNAQ semapv:UnspecifiedMatching OMIM:600998 GNAQ skos:exactMatch ncbigene:2776 semapv:UnspecifiedMatching -OMIM:600999 MAZ skos:exactMatch hgnc:MAZ semapv:UnspecifiedMatching +OMIM:600999 MAZ skos:exactMatch hgnc.symbol:6914 semapv:UnspecifiedMatching +OMIM:600999 MAZ skos:exactMatch hgnc.symbol:MAZ semapv:UnspecifiedMatching OMIM:600999 MAZ skos:exactMatch ncbigene:4150 semapv:UnspecifiedMatching -OMIM:601002 GSS skos:exactMatch hgnc:GSS semapv:UnspecifiedMatching +OMIM:601002 GSS skos:exactMatch hgnc.symbol:4624 semapv:UnspecifiedMatching +OMIM:601002 GSS skos:exactMatch hgnc.symbol:GSS semapv:UnspecifiedMatching OMIM:601002 GSS skos:exactMatch ncbigene:2937 semapv:UnspecifiedMatching -OMIM:601007 LEPR skos:exactMatch hgnc:LEPR semapv:UnspecifiedMatching +OMIM:601007 LEPR skos:exactMatch hgnc.symbol:6554 semapv:UnspecifiedMatching +OMIM:601007 LEPR skos:exactMatch hgnc.symbol:LEPR semapv:UnspecifiedMatching OMIM:601007 LEPR skos:exactMatch ncbigene:3953 semapv:UnspecifiedMatching -OMIM:601009 TJP1 skos:exactMatch hgnc:TJP1 semapv:UnspecifiedMatching +OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:11827 semapv:UnspecifiedMatching +OMIM:601009 TJP1 skos:exactMatch hgnc.symbol:TJP1 semapv:UnspecifiedMatching OMIM:601009 TJP1 skos:exactMatch ncbigene:7082 semapv:UnspecifiedMatching OMIM:601010 TCF15 skos:exactMatch UMLS:C1420633 semapv:UnspecifiedMatching -OMIM:601010 TCF15 skos:exactMatch hgnc:TCF15 semapv:UnspecifiedMatching +OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:11627 semapv:UnspecifiedMatching +OMIM:601010 TCF15 skos:exactMatch hgnc.symbol:TCF15 semapv:UnspecifiedMatching OMIM:601010 TCF15 skos:exactMatch ncbigene:6939 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C0752124 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C1456413 semapv:UnspecifiedMatching @@ -11208,34 +15069,44 @@ OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832885 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C1832903 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C4016713 semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching -OMIM:601011 CACNA1A skos:exactMatch hgnc:CACNA1A semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:1388 semapv:UnspecifiedMatching +OMIM:601011 CACNA1A skos:exactMatch hgnc.symbol:CACNA1A semapv:UnspecifiedMatching OMIM:601011 CACNA1A skos:exactMatch ncbigene:773 semapv:UnspecifiedMatching OMIM:601012 CACNA1B skos:exactMatch UMLS:C1413056 semapv:UnspecifiedMatching OMIM:601012 CACNA1B skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:601012 CACNA1B skos:exactMatch UMLS:C5193128 semapv:UnspecifiedMatching -OMIM:601012 CACNA1B skos:exactMatch hgnc:CACNA1B semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:1389 semapv:UnspecifiedMatching +OMIM:601012 CACNA1B skos:exactMatch hgnc.symbol:CACNA1B semapv:UnspecifiedMatching OMIM:601012 CACNA1B skos:exactMatch ncbigene:774 semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch UMLS:C1413059 semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching -OMIM:601013 CACNA1E skos:exactMatch hgnc:CACNA1E semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:1392 semapv:UnspecifiedMatching +OMIM:601013 CACNA1E skos:exactMatch hgnc.symbol:CACNA1E semapv:UnspecifiedMatching OMIM:601013 CACNA1E skos:exactMatch ncbigene:777 semapv:UnspecifiedMatching -OMIM:601014 DLG1 skos:exactMatch hgnc:DLG1 semapv:UnspecifiedMatching +OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:2900 semapv:UnspecifiedMatching +OMIM:601014 DLG1 skos:exactMatch hgnc.symbol:DLG1 semapv:UnspecifiedMatching OMIM:601014 DLG1 skos:exactMatch ncbigene:1739 semapv:UnspecifiedMatching OMIM:601015 NPC2 skos:exactMatch UMLS:C1422736 semapv:UnspecifiedMatching OMIM:601015 NPC2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching -OMIM:601015 NPC2 skos:exactMatch hgnc:NPC2 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:14537 semapv:UnspecifiedMatching +OMIM:601015 NPC2 skos:exactMatch hgnc.symbol:NPC2 semapv:UnspecifiedMatching OMIM:601015 NPC2 skos:exactMatch ncbigene:10577 semapv:UnspecifiedMatching -OMIM:601017 SNTA1 skos:exactMatch hgnc:SNTA1 semapv:UnspecifiedMatching +OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:11167 semapv:UnspecifiedMatching +OMIM:601017 SNTA1 skos:exactMatch hgnc.symbol:SNTA1 semapv:UnspecifiedMatching OMIM:601017 SNTA1 skos:exactMatch ncbigene:6640 semapv:UnspecifiedMatching -OMIM:601019 SLC6A9 skos:exactMatch hgnc:SLC6A9 semapv:UnspecifiedMatching +OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:11056 semapv:UnspecifiedMatching +OMIM:601019 SLC6A9 skos:exactMatch hgnc.symbol:SLC6A9 semapv:UnspecifiedMatching OMIM:601019 SLC6A9 skos:exactMatch ncbigene:6536 semapv:UnspecifiedMatching -OMIM:601020 CD86 skos:exactMatch hgnc:CD86 semapv:UnspecifiedMatching +OMIM:601020 CD86 skos:exactMatch hgnc.symbol:1705 semapv:UnspecifiedMatching +OMIM:601020 CD86 skos:exactMatch hgnc.symbol:CD86 semapv:UnspecifiedMatching OMIM:601020 CD86 skos:exactMatch ncbigene:942 semapv:UnspecifiedMatching -OMIM:601021 NUP98 skos:exactMatch hgnc:NUP98 semapv:UnspecifiedMatching +OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:8068 semapv:UnspecifiedMatching +OMIM:601021 NUP98 skos:exactMatch hgnc.symbol:NUP98 semapv:UnspecifiedMatching OMIM:601021 NUP98 skos:exactMatch ncbigene:4928 semapv:UnspecifiedMatching OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1417711 semapv:UnspecifiedMatching OMIM:601022 NFKBIL1 skos:exactMatch UMLS:C1833448 semapv:UnspecifiedMatching -OMIM:601022 NFKBIL1 skos:exactMatch hgnc:NFKBIL1 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:7800 semapv:UnspecifiedMatching +OMIM:601022 NFKBIL1 skos:exactMatch hgnc.symbol:NFKBIL1 semapv:UnspecifiedMatching OMIM:601022 NFKBIL1 skos:exactMatch ncbigene:4795 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C1421437 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C4225244 semapv:UnspecifiedMatching @@ -11244,116 +15115,165 @@ OMIM:601023 VCP skos:exactMatch UMLS:C5436950 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C5436951 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C5436952 semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch UMLS:C5436953 semapv:UnspecifiedMatching -OMIM:601023 VCP skos:exactMatch hgnc:VCP semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch hgnc.symbol:12666 semapv:UnspecifiedMatching +OMIM:601023 VCP skos:exactMatch hgnc.symbol:VCP semapv:UnspecifiedMatching OMIM:601023 VCP skos:exactMatch ncbigene:7415 semapv:UnspecifiedMatching OMIM:601024 AP2M1 skos:exactMatch UMLS:C1412444 semapv:UnspecifiedMatching OMIM:601024 AP2M1 skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching -OMIM:601024 AP2M1 skos:exactMatch hgnc:AP2M1 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:564 semapv:UnspecifiedMatching +OMIM:601024 AP2M1 skos:exactMatch hgnc.symbol:AP2M1 semapv:UnspecifiedMatching OMIM:601024 AP2M1 skos:exactMatch ncbigene:1173 semapv:UnspecifiedMatching -OMIM:601025 AP2B1 skos:exactMatch hgnc:AP2B1 semapv:UnspecifiedMatching +OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:563 semapv:UnspecifiedMatching +OMIM:601025 AP2B1 skos:exactMatch hgnc.symbol:AP2B1 semapv:UnspecifiedMatching OMIM:601025 AP2B1 skos:exactMatch ncbigene:163 semapv:UnspecifiedMatching -OMIM:601026 AP2A1 skos:exactMatch hgnc:AP2A1 semapv:UnspecifiedMatching +OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:561 semapv:UnspecifiedMatching +OMIM:601026 AP2A1 skos:exactMatch hgnc.symbol:AP2A1 semapv:UnspecifiedMatching OMIM:601026 AP2A1 skos:exactMatch ncbigene:160 semapv:UnspecifiedMatching -OMIM:601028 CD47 skos:exactMatch hgnc:CD47 semapv:UnspecifiedMatching +OMIM:601028 CD47 skos:exactMatch hgnc.symbol:1682 semapv:UnspecifiedMatching +OMIM:601028 CD47 skos:exactMatch hgnc.symbol:CD47 semapv:UnspecifiedMatching OMIM:601028 CD47 skos:exactMatch ncbigene:961 semapv:UnspecifiedMatching OMIM:601029 MEST skos:exactMatch UMLS:C1417122 semapv:UnspecifiedMatching -OMIM:601029 MEST skos:exactMatch hgnc:MEST semapv:UnspecifiedMatching +OMIM:601029 MEST skos:exactMatch hgnc.symbol:7028 semapv:UnspecifiedMatching +OMIM:601029 MEST skos:exactMatch hgnc.symbol:MEST semapv:UnspecifiedMatching OMIM:601029 MEST skos:exactMatch ncbigene:4232 semapv:UnspecifiedMatching -OMIM:601030 RNASE4 skos:exactMatch hgnc:RNASE4 semapv:UnspecifiedMatching +OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:10047 semapv:UnspecifiedMatching +OMIM:601030 RNASE4 skos:exactMatch hgnc.symbol:RNASE4 semapv:UnspecifiedMatching OMIM:601030 RNASE4 skos:exactMatch ncbigene:6038 semapv:UnspecifiedMatching -OMIM:601031 RHPN1 skos:exactMatch hgnc:RHPN1 semapv:UnspecifiedMatching +OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:19973 semapv:UnspecifiedMatching +OMIM:601031 RHPN1 skos:exactMatch hgnc.symbol:RHPN1 semapv:UnspecifiedMatching OMIM:601031 RHPN1 skos:exactMatch ncbigene:114822 semapv:UnspecifiedMatching -OMIM:601032 PKN1 skos:exactMatch hgnc:PKN1 semapv:UnspecifiedMatching +OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:9405 semapv:UnspecifiedMatching +OMIM:601032 PKN1 skos:exactMatch hgnc.symbol:PKN1 semapv:UnspecifiedMatching OMIM:601032 PKN1 skos:exactMatch ncbigene:5585 semapv:UnspecifiedMatching -OMIM:601033 LAMA5 skos:exactMatch hgnc:LAMA5 semapv:UnspecifiedMatching +OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:6485 semapv:UnspecifiedMatching +OMIM:601033 LAMA5 skos:exactMatch hgnc.symbol:LAMA5 semapv:UnspecifiedMatching OMIM:601033 LAMA5 skos:exactMatch ncbigene:3911 semapv:UnspecifiedMatching -OMIM:601035 HNRNPH1 skos:exactMatch hgnc:HNRNPH1 semapv:UnspecifiedMatching +OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:5041 semapv:UnspecifiedMatching +OMIM:601035 HNRNPH1 skos:exactMatch hgnc.symbol:HNRNPH1 semapv:UnspecifiedMatching OMIM:601035 HNRNPH1 skos:exactMatch ncbigene:3187 semapv:UnspecifiedMatching -OMIM:601037 HNRNPF skos:exactMatch hgnc:HNRNPF semapv:UnspecifiedMatching +OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:5039 semapv:UnspecifiedMatching +OMIM:601037 HNRNPF skos:exactMatch hgnc.symbol:HNRNPF semapv:UnspecifiedMatching OMIM:601037 HNRNPF skos:exactMatch ncbigene:3185 semapv:UnspecifiedMatching -OMIM:601038 DIO3 skos:exactMatch hgnc:DIO3 semapv:UnspecifiedMatching +OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:2885 semapv:UnspecifiedMatching +OMIM:601038 DIO3 skos:exactMatch hgnc.symbol:DIO3 semapv:UnspecifiedMatching OMIM:601038 DIO3 skos:exactMatch ncbigene:1735 semapv:UnspecifiedMatching -OMIM:601040 SCARB1 skos:exactMatch hgnc:SCARB1 semapv:UnspecifiedMatching +OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:1664 semapv:UnspecifiedMatching +OMIM:601040 SCARB1 skos:exactMatch hgnc.symbol:SCARB1 semapv:UnspecifiedMatching OMIM:601040 SCARB1 skos:exactMatch ncbigene:949 semapv:UnspecifiedMatching OMIM:601041 TLE2 skos:exactMatch UMLS:C1420753 semapv:UnspecifiedMatching -OMIM:601041 TLE2 skos:exactMatch hgnc:TLE2 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:11838 semapv:UnspecifiedMatching +OMIM:601041 TLE2 skos:exactMatch hgnc.symbol:TLE2 semapv:UnspecifiedMatching OMIM:601041 TLE2 skos:exactMatch ncbigene:7089 semapv:UnspecifiedMatching -OMIM:601045 CTNND1 skos:exactMatch hgnc:CTNND1 semapv:UnspecifiedMatching +OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:2515 semapv:UnspecifiedMatching +OMIM:601045 CTNND1 skos:exactMatch hgnc.symbol:CTNND1 semapv:UnspecifiedMatching OMIM:601045 CTNND1 skos:exactMatch ncbigene:1500 semapv:UnspecifiedMatching -OMIM:601046 MMP12 skos:exactMatch hgnc:MMP12 semapv:UnspecifiedMatching +OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:7158 semapv:UnspecifiedMatching +OMIM:601046 MMP12 skos:exactMatch hgnc.symbol:MMP12 semapv:UnspecifiedMatching OMIM:601046 MMP12 skos:exactMatch ncbigene:4321 semapv:UnspecifiedMatching -OMIM:601047 CAV1 skos:exactMatch hgnc:CAV1 semapv:UnspecifiedMatching +OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:1527 semapv:UnspecifiedMatching +OMIM:601047 CAV1 skos:exactMatch hgnc.symbol:CAV1 semapv:UnspecifiedMatching OMIM:601047 CAV1 skos:exactMatch ncbigene:857 semapv:UnspecifiedMatching -OMIM:601048 CAV2 skos:exactMatch hgnc:CAV2 semapv:UnspecifiedMatching +OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:1528 semapv:UnspecifiedMatching +OMIM:601048 CAV2 skos:exactMatch hgnc.symbol:CAV2 semapv:UnspecifiedMatching OMIM:601048 CAV2 skos:exactMatch ncbigene:858 semapv:UnspecifiedMatching -OMIM:601051 MSLN skos:exactMatch hgnc:MSLN semapv:UnspecifiedMatching +OMIM:601051 MSLN skos:exactMatch hgnc.symbol:7371 semapv:UnspecifiedMatching +OMIM:601051 MSLN skos:exactMatch hgnc.symbol:MSLN semapv:UnspecifiedMatching OMIM:601051 MSLN skos:exactMatch ncbigene:10232 semapv:UnspecifiedMatching -OMIM:601052 PIN1 skos:exactMatch hgnc:PIN1 semapv:UnspecifiedMatching +OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:8988 semapv:UnspecifiedMatching +OMIM:601052 PIN1 skos:exactMatch hgnc.symbol:PIN1 semapv:UnspecifiedMatching OMIM:601052 PIN1 skos:exactMatch ncbigene:5300 semapv:UnspecifiedMatching -OMIM:601053 PLXNB1 skos:exactMatch hgnc:PLXNB1 semapv:UnspecifiedMatching +OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:9103 semapv:UnspecifiedMatching +OMIM:601053 PLXNB1 skos:exactMatch hgnc.symbol:PLXNB1 semapv:UnspecifiedMatching OMIM:601053 PLXNB1 skos:exactMatch ncbigene:5364 semapv:UnspecifiedMatching OMIM:601054 PLXNA2 skos:exactMatch UMLS:C1418661 semapv:UnspecifiedMatching -OMIM:601054 PLXNA2 skos:exactMatch hgnc:PLXNA2 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:9100 semapv:UnspecifiedMatching +OMIM:601054 PLXNA2 skos:exactMatch hgnc.symbol:PLXNA2 semapv:UnspecifiedMatching OMIM:601054 PLXNA2 skos:exactMatch ncbigene:5362 semapv:UnspecifiedMatching OMIM:601055 PLXNA1 skos:exactMatch UMLS:C1418660 semapv:UnspecifiedMatching -OMIM:601055 PLXNA1 skos:exactMatch hgnc:PLXNA1 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:9099 semapv:UnspecifiedMatching +OMIM:601055 PLXNA1 skos:exactMatch hgnc.symbol:PLXNA1 semapv:UnspecifiedMatching OMIM:601055 PLXNA1 skos:exactMatch ncbigene:5361 semapv:UnspecifiedMatching -OMIM:601056 BCL2A1 skos:exactMatch hgnc:BCL2A1 semapv:UnspecifiedMatching +OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:991 semapv:UnspecifiedMatching +OMIM:601056 BCL2A1 skos:exactMatch hgnc.symbol:BCL2A1 semapv:UnspecifiedMatching OMIM:601056 BCL2A1 skos:exactMatch ncbigene:597 semapv:UnspecifiedMatching -OMIM:601057 PDCD6 skos:exactMatch hgnc:PDCD6 semapv:UnspecifiedMatching +OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:8765 semapv:UnspecifiedMatching +OMIM:601057 PDCD6 skos:exactMatch hgnc.symbol:PDCD6 semapv:UnspecifiedMatching OMIM:601057 PDCD6 skos:exactMatch ncbigene:10016 semapv:UnspecifiedMatching -OMIM:601058 H3F3B skos:exactMatch hgnc:H3-3B semapv:UnspecifiedMatching +OMIM:601058 H3F3B skos:exactMatch hgnc.symbol:4765 semapv:UnspecifiedMatching +OMIM:601058 H3F3B skos:exactMatch hgnc.symbol:H3-3B semapv:UnspecifiedMatching OMIM:601058 H3F3B skos:exactMatch ncbigene:3021 semapv:UnspecifiedMatching -OMIM:601060 ENPP2 skos:exactMatch hgnc:ENPP2 semapv:UnspecifiedMatching +OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:3357 semapv:UnspecifiedMatching +OMIM:601060 ENPP2 skos:exactMatch hgnc.symbol:ENPP2 semapv:UnspecifiedMatching OMIM:601060 ENPP2 skos:exactMatch ncbigene:5168 semapv:UnspecifiedMatching -OMIM:601061 SNRPD2 skos:exactMatch hgnc:SNRPD2 semapv:UnspecifiedMatching +OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:11159 semapv:UnspecifiedMatching +OMIM:601061 SNRPD2 skos:exactMatch hgnc.symbol:SNRPD2 semapv:UnspecifiedMatching OMIM:601061 SNRPD2 skos:exactMatch ncbigene:6633 semapv:UnspecifiedMatching -OMIM:601062 SNRPD3 skos:exactMatch hgnc:SNRPD3 semapv:UnspecifiedMatching +OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:11160 semapv:UnspecifiedMatching +OMIM:601062 SNRPD3 skos:exactMatch hgnc.symbol:SNRPD3 semapv:UnspecifiedMatching OMIM:601062 SNRPD3 skos:exactMatch ncbigene:6634 semapv:UnspecifiedMatching -OMIM:601063 SNRPD1 skos:exactMatch hgnc:SNRPD1 semapv:UnspecifiedMatching +OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:11158 semapv:UnspecifiedMatching +OMIM:601063 SNRPD1 skos:exactMatch hgnc.symbol:SNRPD1 semapv:UnspecifiedMatching OMIM:601063 SNRPD1 skos:exactMatch ncbigene:6632 semapv:UnspecifiedMatching -OMIM:601064 ZFP36L1 skos:exactMatch hgnc:ZFP36L1 semapv:UnspecifiedMatching +OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:1107 semapv:UnspecifiedMatching +OMIM:601064 ZFP36L1 skos:exactMatch hgnc.symbol:ZFP36L1 semapv:UnspecifiedMatching OMIM:601064 ZFP36L1 skos:exactMatch ncbigene:677 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch UMLS:C1412054 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch UMLS:C2750090 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching -OMIM:601065 AARS1 skos:exactMatch hgnc:AARS1 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:20 semapv:UnspecifiedMatching +OMIM:601065 AARS1 skos:exactMatch hgnc.symbol:AARS1 semapv:UnspecifiedMatching OMIM:601065 AARS1 skos:exactMatch ncbigene:16 semapv:UnspecifiedMatching -OMIM:601066 OXA1L skos:exactMatch hgnc:OXA1L semapv:UnspecifiedMatching +OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:8526 semapv:UnspecifiedMatching +OMIM:601066 OXA1L skos:exactMatch hgnc.symbol:OXA1L semapv:UnspecifiedMatching OMIM:601066 OXA1L skos:exactMatch ncbigene:5018 semapv:UnspecifiedMatching -OMIM:601069 ZNF239 skos:exactMatch hgnc:ZNF239 semapv:UnspecifiedMatching +OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:13031 semapv:UnspecifiedMatching +OMIM:601069 ZNF239 skos:exactMatch hgnc.symbol:ZNF239 semapv:UnspecifiedMatching OMIM:601069 ZNF239 skos:exactMatch ncbigene:8187 semapv:UnspecifiedMatching -OMIM:601070 IL15RA skos:exactMatch hgnc:IL15RA semapv:UnspecifiedMatching +OMIM:601070 IL15RA skos:exactMatch hgnc.symbol:5978 semapv:UnspecifiedMatching +OMIM:601070 IL15RA skos:exactMatch hgnc.symbol:IL15RA semapv:UnspecifiedMatching OMIM:601070 IL15RA skos:exactMatch ncbigene:3601 semapv:UnspecifiedMatching -OMIM:601074 CELF1 skos:exactMatch hgnc:CELF1 semapv:UnspecifiedMatching +OMIM:601074 CELF1 skos:exactMatch hgnc.symbol:2549 semapv:UnspecifiedMatching +OMIM:601074 CELF1 skos:exactMatch hgnc.symbol:CELF1 semapv:UnspecifiedMatching OMIM:601074 CELF1 skos:exactMatch ncbigene:10658 semapv:UnspecifiedMatching -OMIM:601077 KRT31 skos:exactMatch hgnc:KRT31 semapv:UnspecifiedMatching +OMIM:601077 KRT31 skos:exactMatch hgnc.symbol:6448 semapv:UnspecifiedMatching +OMIM:601077 KRT31 skos:exactMatch hgnc.symbol:KRT31 semapv:UnspecifiedMatching OMIM:601077 KRT31 skos:exactMatch ncbigene:3881 semapv:UnspecifiedMatching -OMIM:601078 KRT82 skos:exactMatch hgnc:KRT82 semapv:UnspecifiedMatching +OMIM:601078 KRT82 skos:exactMatch hgnc.symbol:6459 semapv:UnspecifiedMatching +OMIM:601078 KRT82 skos:exactMatch hgnc.symbol:KRT82 semapv:UnspecifiedMatching OMIM:601078 KRT82 skos:exactMatch ncbigene:3888 semapv:UnspecifiedMatching -OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc:ZRSR2P1 semapv:UnspecifiedMatching -OMIM:601080 U2AF1L4 skos:exactMatch hgnc:U2AF1L4 semapv:UnspecifiedMatching +OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc.symbol:12456 semapv:UnspecifiedMatching +OMIM:601079 zrsr2 pseudogene 1 skos:exactMatch hgnc.symbol:ZRSR2P1 semapv:UnspecifiedMatching +OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:23020 semapv:UnspecifiedMatching +OMIM:601080 U2AF1L4 skos:exactMatch hgnc.symbol:U2AF1L4 semapv:UnspecifiedMatching OMIM:601080 U2AF1L4 skos:exactMatch ncbigene:199746 semapv:UnspecifiedMatching -OMIM:601081 ABCD2 skos:exactMatch hgnc:ABCD2 semapv:UnspecifiedMatching +OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:66 semapv:UnspecifiedMatching +OMIM:601081 ABCD2 skos:exactMatch hgnc.symbol:ABCD2 semapv:UnspecifiedMatching OMIM:601081 ABCD2 skos:exactMatch ncbigene:225 semapv:UnspecifiedMatching -OMIM:601082 UBE2H skos:exactMatch hgnc:UBE2H semapv:UnspecifiedMatching +OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:12484 semapv:UnspecifiedMatching +OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:UBE2H semapv:UnspecifiedMatching OMIM:601082 UBE2H skos:exactMatch ncbigene:7328 semapv:UnspecifiedMatching +OMIM:601088 ayme-gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching OMIM:601088 ayme-gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching -OMIM:601088 ayme-gripp syndrome skos:exactMatch orphanet.ordo:1272 semapv:UnspecifiedMatching OMIM:601089 FOXF1 skos:exactMatch UMLS:C0031190 semapv:UnspecifiedMatching OMIM:601089 FOXF1 skos:exactMatch UMLS:C1414677 semapv:UnspecifiedMatching -OMIM:601089 FOXF1 skos:exactMatch hgnc:FOXF1 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:3809 semapv:UnspecifiedMatching +OMIM:601089 FOXF1 skos:exactMatch hgnc.symbol:FOXF1 semapv:UnspecifiedMatching OMIM:601089 FOXF1 skos:exactMatch ncbigene:2294 semapv:UnspecifiedMatching -OMIM:601090 FOXC1 skos:exactMatch hgnc:FOXC1 semapv:UnspecifiedMatching +OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:3800 semapv:UnspecifiedMatching +OMIM:601090 FOXC1 skos:exactMatch hgnc.symbol:FOXC1 semapv:UnspecifiedMatching OMIM:601090 FOXC1 skos:exactMatch ncbigene:2296 semapv:UnspecifiedMatching -OMIM:601091 FOXD1 skos:exactMatch hgnc:FOXD1 semapv:UnspecifiedMatching +OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:3802 semapv:UnspecifiedMatching +OMIM:601091 FOXD1 skos:exactMatch hgnc.symbol:FOXD1 semapv:UnspecifiedMatching OMIM:601091 FOXD1 skos:exactMatch ncbigene:2297 semapv:UnspecifiedMatching -OMIM:601092 FOXD4 skos:exactMatch hgnc:FOXD4 semapv:UnspecifiedMatching +OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:3805 semapv:UnspecifiedMatching +OMIM:601092 FOXD4 skos:exactMatch hgnc.symbol:FOXD4 semapv:UnspecifiedMatching OMIM:601092 FOXD4 skos:exactMatch ncbigene:2298 semapv:UnspecifiedMatching -OMIM:601093 FOXI1 skos:exactMatch hgnc:FOXI1 semapv:UnspecifiedMatching +OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:3815 semapv:UnspecifiedMatching +OMIM:601093 FOXI1 skos:exactMatch hgnc.symbol:FOXI1 semapv:UnspecifiedMatching OMIM:601093 FOXI1 skos:exactMatch ncbigene:2299 semapv:UnspecifiedMatching -OMIM:601094 FOXE3 skos:exactMatch hgnc:FOXE3 semapv:UnspecifiedMatching +OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:3808 semapv:UnspecifiedMatching +OMIM:601094 FOXE3 skos:exactMatch hgnc.symbol:FOXE3 semapv:UnspecifiedMatching OMIM:601094 FOXE3 skos:exactMatch ncbigene:2301 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C0205713 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C0270911 semapv:UnspecifiedMatching @@ -11365,91 +15285,129 @@ OMIM:601097 PMP22 skos:exactMatch UMLS:C3495591 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C4016264 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C4016716 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch UMLS:C4016717 semapv:UnspecifiedMatching -OMIM:601097 PMP22 skos:exactMatch hgnc:PMP22 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:9118 semapv:UnspecifiedMatching +OMIM:601097 PMP22 skos:exactMatch hgnc.symbol:PMP22 semapv:UnspecifiedMatching OMIM:601097 PMP22 skos:exactMatch ncbigene:5376 semapv:UnspecifiedMatching +OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch Orphanet:101083 semapv:UnspecifiedMatching OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching -OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c skos:exactMatch orphanet.ordo:101083 semapv:UnspecifiedMatching -OMIM:601099 SLA skos:exactMatch hgnc:SLA semapv:UnspecifiedMatching +OMIM:601099 SLA skos:exactMatch hgnc.symbol:10902 semapv:UnspecifiedMatching +OMIM:601099 SLA skos:exactMatch hgnc.symbol:SLA semapv:UnspecifiedMatching OMIM:601099 SLA skos:exactMatch ncbigene:6503 semapv:UnspecifiedMatching -OMIM:601100 HSPA13 skos:exactMatch hgnc:HSPA13 semapv:UnspecifiedMatching +OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:11375 semapv:UnspecifiedMatching +OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:HSPA13 semapv:UnspecifiedMatching OMIM:601100 HSPA13 skos:exactMatch ncbigene:6782 semapv:UnspecifiedMatching -OMIM:601102 EIF4A2 skos:exactMatch hgnc:EIF4A2 semapv:UnspecifiedMatching +OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:3284 semapv:UnspecifiedMatching +OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:EIF4A2 semapv:UnspecifiedMatching OMIM:601102 EIF4A2 skos:exactMatch ncbigene:1974 semapv:UnspecifiedMatching -OMIM:601103 MFAP5 skos:exactMatch hgnc:MFAP5 semapv:UnspecifiedMatching +OMIM:601103 MFAP5 skos:exactMatch hgnc.symbol:29673 semapv:UnspecifiedMatching +OMIM:601103 MFAP5 skos:exactMatch hgnc.symbol:MFAP5 semapv:UnspecifiedMatching OMIM:601103 MFAP5 skos:exactMatch ncbigene:8076 semapv:UnspecifiedMatching -OMIM:601105 CTSK skos:exactMatch hgnc:CTSK semapv:UnspecifiedMatching +OMIM:601105 CTSK skos:exactMatch hgnc.symbol:2536 semapv:UnspecifiedMatching +OMIM:601105 CTSK skos:exactMatch hgnc.symbol:CTSK semapv:UnspecifiedMatching OMIM:601105 CTSK skos:exactMatch ncbigene:1513 semapv:UnspecifiedMatching -OMIM:601107 ABCC2 skos:exactMatch hgnc:ABCC2 semapv:UnspecifiedMatching +OMIM:601107 ABCC2 skos:exactMatch hgnc.symbol:53 semapv:UnspecifiedMatching +OMIM:601107 ABCC2 skos:exactMatch hgnc.symbol:ABCC2 semapv:UnspecifiedMatching OMIM:601107 ABCC2 skos:exactMatch ncbigene:1244 semapv:UnspecifiedMatching -OMIM:601109 HTR6 skos:exactMatch hgnc:HTR6 semapv:UnspecifiedMatching +OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:5301 semapv:UnspecifiedMatching +OMIM:601109 HTR6 skos:exactMatch hgnc.symbol:HTR6 semapv:UnspecifiedMatching OMIM:601109 HTR6 skos:exactMatch ncbigene:3362 semapv:UnspecifiedMatching -OMIM:601112 TXNRD1 skos:exactMatch hgnc:TXNRD1 semapv:UnspecifiedMatching +OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:12437 semapv:UnspecifiedMatching +OMIM:601112 TXNRD1 skos:exactMatch hgnc.symbol:TXNRD1 semapv:UnspecifiedMatching OMIM:601112 TXNRD1 skos:exactMatch ncbigene:7296 semapv:UnspecifiedMatching OMIM:601113 HSPA4 skos:exactMatch UMLS:C1415760 semapv:UnspecifiedMatching -OMIM:601113 HSPA4 skos:exactMatch hgnc:HSPA4 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:5237 semapv:UnspecifiedMatching +OMIM:601113 HSPA4 skos:exactMatch hgnc.symbol:HSPA4 semapv:UnspecifiedMatching OMIM:601113 HSPA4 skos:exactMatch ncbigene:3308 semapv:UnspecifiedMatching -OMIM:601114 MPP3 skos:exactMatch hgnc:MPP3 semapv:UnspecifiedMatching +OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:7221 semapv:UnspecifiedMatching +OMIM:601114 MPP3 skos:exactMatch hgnc.symbol:MPP3 semapv:UnspecifiedMatching OMIM:601114 MPP3 skos:exactMatch ncbigene:4356 semapv:UnspecifiedMatching -OMIM:601115 GRM3 skos:exactMatch hgnc:GRM3 semapv:UnspecifiedMatching +OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:4595 semapv:UnspecifiedMatching +OMIM:601115 GRM3 skos:exactMatch hgnc.symbol:GRM3 semapv:UnspecifiedMatching OMIM:601115 GRM3 skos:exactMatch ncbigene:2913 semapv:UnspecifiedMatching -OMIM:601116 GRM8 skos:exactMatch hgnc:GRM8 semapv:UnspecifiedMatching +OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:4600 semapv:UnspecifiedMatching +OMIM:601116 GRM8 skos:exactMatch hgnc.symbol:GRM8 semapv:UnspecifiedMatching OMIM:601116 GRM8 skos:exactMatch ncbigene:2918 semapv:UnspecifiedMatching -OMIM:601117 THOP1 skos:exactMatch hgnc:THOP1 semapv:UnspecifiedMatching +OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:11793 semapv:UnspecifiedMatching +OMIM:601117 THOP1 skos:exactMatch hgnc.symbol:THOP1 semapv:UnspecifiedMatching OMIM:601117 THOP1 skos:exactMatch ncbigene:7064 semapv:UnspecifiedMatching -OMIM:601118 CAMLG skos:exactMatch hgnc:CAMLG semapv:UnspecifiedMatching +OMIM:601118 CAMLG skos:exactMatch hgnc.symbol:1471 semapv:UnspecifiedMatching +OMIM:601118 CAMLG skos:exactMatch hgnc.symbol:CAMLG semapv:UnspecifiedMatching OMIM:601118 CAMLG skos:exactMatch ncbigene:819 semapv:UnspecifiedMatching -OMIM:601119 CLPP skos:exactMatch hgnc:CLPP semapv:UnspecifiedMatching +OMIM:601119 CLPP skos:exactMatch hgnc.symbol:2084 semapv:UnspecifiedMatching +OMIM:601119 CLPP skos:exactMatch hgnc.symbol:CLPP semapv:UnspecifiedMatching OMIM:601119 CLPP skos:exactMatch ncbigene:8192 semapv:UnspecifiedMatching -OMIM:601120 CDH5 skos:exactMatch hgnc:CDH5 semapv:UnspecifiedMatching +OMIM:601120 CDH5 skos:exactMatch hgnc.symbol:1764 semapv:UnspecifiedMatching +OMIM:601120 CDH5 skos:exactMatch hgnc.symbol:CDH5 semapv:UnspecifiedMatching OMIM:601120 CDH5 skos:exactMatch ncbigene:1003 semapv:UnspecifiedMatching -OMIM:601121 PGF skos:exactMatch hgnc:PGF semapv:UnspecifiedMatching +OMIM:601121 PGF skos:exactMatch hgnc.symbol:8893 semapv:UnspecifiedMatching +OMIM:601121 PGF skos:exactMatch hgnc.symbol:PGF semapv:UnspecifiedMatching OMIM:601121 PGF skos:exactMatch ncbigene:5228 semapv:UnspecifiedMatching -OMIM:601122 HTR2B skos:exactMatch hgnc:HTR2B semapv:UnspecifiedMatching +OMIM:601122 HTR2B skos:exactMatch hgnc.symbol:5294 semapv:UnspecifiedMatching +OMIM:601122 HTR2B skos:exactMatch hgnc.symbol:HTR2B semapv:UnspecifiedMatching OMIM:601122 HTR2B skos:exactMatch ncbigene:3357 semapv:UnspecifiedMatching -OMIM:601123 ST8SIA1 skos:exactMatch hgnc:ST8SIA1 semapv:UnspecifiedMatching +OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:10869 semapv:UnspecifiedMatching +OMIM:601123 ST8SIA1 skos:exactMatch hgnc.symbol:ST8SIA1 semapv:UnspecifiedMatching OMIM:601123 ST8SIA1 skos:exactMatch ncbigene:6489 semapv:UnspecifiedMatching -OMIM:601124 SEMA3F skos:exactMatch hgnc:SEMA3F semapv:UnspecifiedMatching +OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:10728 semapv:UnspecifiedMatching +OMIM:601124 SEMA3F skos:exactMatch hgnc.symbol:SEMA3F semapv:UnspecifiedMatching OMIM:601124 SEMA3F skos:exactMatch ncbigene:6405 semapv:UnspecifiedMatching -OMIM:601125 HK2 skos:exactMatch hgnc:HK2 semapv:UnspecifiedMatching +OMIM:601125 HK2 skos:exactMatch hgnc.symbol:4923 semapv:UnspecifiedMatching +OMIM:601125 HK2 skos:exactMatch hgnc.symbol:HK2 semapv:UnspecifiedMatching OMIM:601125 HK2 skos:exactMatch ncbigene:3099 semapv:UnspecifiedMatching -OMIM:601126 TMF1 skos:exactMatch hgnc:TMF1 semapv:UnspecifiedMatching +OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:11870 semapv:UnspecifiedMatching +OMIM:601126 TMF1 skos:exactMatch hgnc.symbol:TMF1 semapv:UnspecifiedMatching OMIM:601126 TMF1 skos:exactMatch ncbigene:7110 semapv:UnspecifiedMatching OMIM:601128 H3F3A skos:exactMatch UMLS:C1415427 semapv:UnspecifiedMatching -OMIM:601128 H3F3A skos:exactMatch hgnc:H3-3A semapv:UnspecifiedMatching +OMIM:601128 H3F3A skos:exactMatch hgnc.symbol:4764 semapv:UnspecifiedMatching +OMIM:601128 H3F3A skos:exactMatch hgnc.symbol:H3-3A semapv:UnspecifiedMatching OMIM:601128 H3F3A skos:exactMatch ncbigene:3020 semapv:UnspecifiedMatching OMIM:601129 CYP2C8 skos:exactMatch UMLS:C1413873 semapv:UnspecifiedMatching OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693948 semapv:UnspecifiedMatching OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693986 semapv:UnspecifiedMatching OMIM:601129 CYP2C8 skos:exactMatch UMLS:C4693987 semapv:UnspecifiedMatching -OMIM:601129 CYP2C8 skos:exactMatch hgnc:CYP2C8 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch hgnc.symbol:2622 semapv:UnspecifiedMatching +OMIM:601129 CYP2C8 skos:exactMatch hgnc.symbol:CYP2C8 semapv:UnspecifiedMatching OMIM:601129 CYP2C8 skos:exactMatch ncbigene:1558 semapv:UnspecifiedMatching -OMIM:601130 CYP2C9 skos:exactMatch hgnc:CYP2C9 semapv:UnspecifiedMatching +OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:2623 semapv:UnspecifiedMatching +OMIM:601130 CYP2C9 skos:exactMatch hgnc.symbol:CYP2C9 semapv:UnspecifiedMatching OMIM:601130 CYP2C9 skos:exactMatch ncbigene:1559 semapv:UnspecifiedMatching -OMIM:601131 CYP2C18 skos:exactMatch hgnc:CYP2C18 semapv:UnspecifiedMatching +OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:2620 semapv:UnspecifiedMatching +OMIM:601131 CYP2C18 skos:exactMatch hgnc.symbol:CYP2C18 semapv:UnspecifiedMatching OMIM:601131 CYP2C18 skos:exactMatch ncbigene:1562 semapv:UnspecifiedMatching -OMIM:601132 KSR1 skos:exactMatch hgnc:KSR1 semapv:UnspecifiedMatching +OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:6465 semapv:UnspecifiedMatching +OMIM:601132 KSR1 skos:exactMatch hgnc.symbol:KSR1 semapv:UnspecifiedMatching OMIM:601132 KSR1 skos:exactMatch ncbigene:8844 semapv:UnspecifiedMatching OMIM:601133 CYP2G1P skos:exactMatch UMLS:C1413879 semapv:UnspecifiedMatching -OMIM:601133 CYP2G1P skos:exactMatch hgnc:CYP2G1P semapv:UnspecifiedMatching +OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:2633 semapv:UnspecifiedMatching +OMIM:601133 CYP2G1P skos:exactMatch hgnc.symbol:CYP2G1P semapv:UnspecifiedMatching OMIM:601133 CYP2G1P skos:exactMatch ncbigene:22952 semapv:UnspecifiedMatching OMIM:601134 STT3A skos:exactMatch UMLS:C1823138 semapv:UnspecifiedMatching OMIM:601134 STT3A skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching -OMIM:601134 STT3A skos:exactMatch hgnc:STT3A semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch hgnc.symbol:6172 semapv:UnspecifiedMatching +OMIM:601134 STT3A skos:exactMatch hgnc.symbol:STT3A semapv:UnspecifiedMatching OMIM:601134 STT3A skos:exactMatch ncbigene:3703 semapv:UnspecifiedMatching -OMIM:601135 GBX2 skos:exactMatch hgnc:GBX2 semapv:UnspecifiedMatching +OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:4186 semapv:UnspecifiedMatching +OMIM:601135 GBX2 skos:exactMatch hgnc.symbol:GBX2 semapv:UnspecifiedMatching OMIM:601135 GBX2 skos:exactMatch ncbigene:2637 semapv:UnspecifiedMatching -OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc:GUCY2EP semapv:UnspecifiedMatching -OMIM:601139 ZNF175 skos:exactMatch hgnc:ZNF175 semapv:UnspecifiedMatching +OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:4690 semapv:UnspecifiedMatching +OMIM:601138 guanylate cyclase 2e, pseudogene skos:exactMatch hgnc.symbol:GUCY2EP semapv:UnspecifiedMatching +OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:12964 semapv:UnspecifiedMatching +OMIM:601139 ZNF175 skos:exactMatch hgnc.symbol:ZNF175 semapv:UnspecifiedMatching OMIM:601139 ZNF175 skos:exactMatch ncbigene:7728 semapv:UnspecifiedMatching -OMIM:601140 PPP1R14B skos:exactMatch hgnc:PPP1R14B semapv:UnspecifiedMatching +OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:9057 semapv:UnspecifiedMatching +OMIM:601140 PPP1R14B skos:exactMatch hgnc.symbol:PPP1R14B semapv:UnspecifiedMatching OMIM:601140 PPP1R14B skos:exactMatch ncbigene:26472 semapv:UnspecifiedMatching -OMIM:601141 KCNAB1 skos:exactMatch hgnc:KCNAB1 semapv:UnspecifiedMatching +OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:6228 semapv:UnspecifiedMatching +OMIM:601141 KCNAB1 skos:exactMatch hgnc.symbol:KCNAB1 semapv:UnspecifiedMatching OMIM:601141 KCNAB1 skos:exactMatch ncbigene:7881 semapv:UnspecifiedMatching -OMIM:601142 KCNAB2 skos:exactMatch hgnc:KCNAB2 semapv:UnspecifiedMatching +OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:6229 semapv:UnspecifiedMatching +OMIM:601142 KCNAB2 skos:exactMatch hgnc.symbol:KCNAB2 semapv:UnspecifiedMatching OMIM:601142 KCNAB2 skos:exactMatch ncbigene:8514 semapv:UnspecifiedMatching -OMIM:601143 DCTN1 skos:exactMatch hgnc:DCTN1 semapv:UnspecifiedMatching +OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:2711 semapv:UnspecifiedMatching +OMIM:601143 DCTN1 skos:exactMatch hgnc.symbol:DCTN1 semapv:UnspecifiedMatching OMIM:601143 DCTN1 skos:exactMatch ncbigene:1639 semapv:UnspecifiedMatching -OMIM:601145 CSTB skos:exactMatch hgnc:CSTB semapv:UnspecifiedMatching +OMIM:601145 CSTB skos:exactMatch hgnc.symbol:2482 semapv:UnspecifiedMatching +OMIM:601145 CSTB skos:exactMatch hgnc.symbol:CSTB semapv:UnspecifiedMatching OMIM:601145 CSTB skos:exactMatch ncbigene:1476 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C0265260 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C1333666 semapv:UnspecifiedMatching @@ -11461,346 +15419,487 @@ OMIM:601146 GDF5 skos:exactMatch UMLS:C2930970 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C3554446 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch UMLS:C4759728 semapv:UnspecifiedMatching -OMIM:601146 GDF5 skos:exactMatch hgnc:GDF5 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:4220 semapv:UnspecifiedMatching +OMIM:601146 GDF5 skos:exactMatch hgnc.symbol:GDF5 semapv:UnspecifiedMatching OMIM:601146 GDF5 skos:exactMatch ncbigene:8200 semapv:UnspecifiedMatching -OMIM:601147 GDF6 skos:exactMatch hgnc:GDF6 semapv:UnspecifiedMatching +OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:4221 semapv:UnspecifiedMatching +OMIM:601147 GDF6 skos:exactMatch hgnc.symbol:GDF6 semapv:UnspecifiedMatching OMIM:601147 GDF6 skos:exactMatch ncbigene:392255 semapv:UnspecifiedMatching -OMIM:601148 SMCP skos:exactMatch hgnc:SMCP semapv:UnspecifiedMatching +OMIM:601148 SMCP skos:exactMatch hgnc.symbol:6962 semapv:UnspecifiedMatching +OMIM:601148 SMCP skos:exactMatch hgnc.symbol:SMCP semapv:UnspecifiedMatching OMIM:601148 SMCP skos:exactMatch ncbigene:4184 semapv:UnspecifiedMatching OMIM:601149 IDH3A skos:exactMatch UMLS:C1415878 semapv:UnspecifiedMatching OMIM:601149 IDH3A skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching -OMIM:601149 IDH3A skos:exactMatch hgnc:IDH3A semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:5384 semapv:UnspecifiedMatching +OMIM:601149 IDH3A skos:exactMatch hgnc.symbol:IDH3A semapv:UnspecifiedMatching OMIM:601149 IDH3A skos:exactMatch ncbigene:3419 semapv:UnspecifiedMatching OMIM:601150 DDX11 skos:exactMatch UMLS:C1413953 semapv:UnspecifiedMatching OMIM:601150 DDX11 skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching -OMIM:601150 DDX11 skos:exactMatch hgnc:DDX11 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:2736 semapv:UnspecifiedMatching +OMIM:601150 DDX11 skos:exactMatch hgnc.symbol:DDX11 semapv:UnspecifiedMatching OMIM:601150 DDX11 skos:exactMatch ncbigene:1663 semapv:UnspecifiedMatching OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch UMLS:C1413954 semapv:UnspecifiedMatching -OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc:DDX12P semapv:UnspecifiedMatching -OMIM:601153 FHIT skos:exactMatch hgnc:FHIT semapv:UnspecifiedMatching +OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:2737 semapv:UnspecifiedMatching +OMIM:601151 dead/h-box helicase 12, pseudogene skos:exactMatch hgnc.symbol:DDX12P semapv:UnspecifiedMatching +OMIM:601153 FHIT skos:exactMatch hgnc.symbol:3701 semapv:UnspecifiedMatching +OMIM:601153 FHIT skos:exactMatch hgnc.symbol:FHIT semapv:UnspecifiedMatching OMIM:601153 FHIT skos:exactMatch ncbigene:2272 semapv:UnspecifiedMatching -OMIM:601155 HMHA1 skos:exactMatch hgnc:ARHGAP45 semapv:UnspecifiedMatching +OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:17102 semapv:UnspecifiedMatching +OMIM:601155 HMHA1 skos:exactMatch hgnc.symbol:ARHGAP45 semapv:UnspecifiedMatching OMIM:601155 HMHA1 skos:exactMatch ncbigene:23526 semapv:UnspecifiedMatching -OMIM:601156 CCL11 skos:exactMatch hgnc:CCL11 semapv:UnspecifiedMatching +OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:10610 semapv:UnspecifiedMatching +OMIM:601156 CCL11 skos:exactMatch hgnc.symbol:CCL11 semapv:UnspecifiedMatching OMIM:601156 CCL11 skos:exactMatch ncbigene:6356 semapv:UnspecifiedMatching -OMIM:601157 DEFA4 skos:exactMatch hgnc:DEFA4 semapv:UnspecifiedMatching +OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:2763 semapv:UnspecifiedMatching +OMIM:601157 DEFA4 skos:exactMatch hgnc.symbol:DEFA4 semapv:UnspecifiedMatching OMIM:601157 DEFA4 skos:exactMatch ncbigene:1669 semapv:UnspecifiedMatching -OMIM:601158 MAPK8 skos:exactMatch hgnc:MAPK8 semapv:UnspecifiedMatching +OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:6881 semapv:UnspecifiedMatching +OMIM:601158 MAPK8 skos:exactMatch hgnc.symbol:MAPK8 semapv:UnspecifiedMatching OMIM:601158 MAPK8 skos:exactMatch ncbigene:5599 semapv:UnspecifiedMatching -OMIM:601159 CCR1 skos:exactMatch hgnc:CCR1 semapv:UnspecifiedMatching +OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:1602 semapv:UnspecifiedMatching +OMIM:601159 CCR1 skos:exactMatch hgnc.symbol:CCR1 semapv:UnspecifiedMatching OMIM:601159 CCR1 skos:exactMatch ncbigene:1230 semapv:UnspecifiedMatching -OMIM:601166 GPR15 skos:exactMatch hgnc:GPR15 semapv:UnspecifiedMatching +OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:4469 semapv:UnspecifiedMatching +OMIM:601166 GPR15 skos:exactMatch hgnc.symbol:GPR15 semapv:UnspecifiedMatching OMIM:601166 GPR15 skos:exactMatch ncbigene:2838 semapv:UnspecifiedMatching -OMIM:601167 P2RY1 skos:exactMatch hgnc:P2RY1 semapv:UnspecifiedMatching +OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:8539 semapv:UnspecifiedMatching +OMIM:601167 P2RY1 skos:exactMatch hgnc.symbol:P2RY1 semapv:UnspecifiedMatching OMIM:601167 P2RY1 skos:exactMatch ncbigene:5028 semapv:UnspecifiedMatching -OMIM:601168 DPYSL3 skos:exactMatch hgnc:DPYSL3 semapv:UnspecifiedMatching +OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:3015 semapv:UnspecifiedMatching +OMIM:601168 DPYSL3 skos:exactMatch hgnc.symbol:DPYSL3 semapv:UnspecifiedMatching OMIM:601168 DPYSL3 skos:exactMatch ncbigene:1809 semapv:UnspecifiedMatching -OMIM:601172 CSPG4 skos:exactMatch hgnc:CSPG4 semapv:UnspecifiedMatching +OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:2466 semapv:UnspecifiedMatching +OMIM:601172 CSPG4 skos:exactMatch hgnc.symbol:CSPG4 semapv:UnspecifiedMatching OMIM:601172 CSPG4 skos:exactMatch ncbigene:1464 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch UMLS:C1412537 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching -OMIM:601175 ARL2 skos:exactMatch hgnc:ARL2 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:693 semapv:UnspecifiedMatching +OMIM:601175 ARL2 skos:exactMatch hgnc.symbol:ARL2 semapv:UnspecifiedMatching OMIM:601175 ARL2 skos:exactMatch ncbigene:402 semapv:UnspecifiedMatching -OMIM:601176 GCLM skos:exactMatch hgnc:GCLM semapv:UnspecifiedMatching +OMIM:601176 GCLM skos:exactMatch hgnc.symbol:4312 semapv:UnspecifiedMatching +OMIM:601176 GCLM skos:exactMatch hgnc.symbol:GCLM semapv:UnspecifiedMatching OMIM:601176 GCLM skos:exactMatch ncbigene:2730 semapv:UnspecifiedMatching -OMIM:601177 ARF4 skos:exactMatch hgnc:ARF4 semapv:UnspecifiedMatching +OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:655 semapv:UnspecifiedMatching +OMIM:601177 ARF4 skos:exactMatch hgnc.symbol:ARF4 semapv:UnspecifiedMatching OMIM:601177 ARF4 skos:exactMatch ncbigene:378 semapv:UnspecifiedMatching -OMIM:601178 CAPRIN1 skos:exactMatch hgnc:CAPRIN1 semapv:UnspecifiedMatching +OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:6743 semapv:UnspecifiedMatching +OMIM:601178 CAPRIN1 skos:exactMatch hgnc.symbol:CAPRIN1 semapv:UnspecifiedMatching OMIM:601178 CAPRIN1 skos:exactMatch ncbigene:4076 semapv:UnspecifiedMatching -OMIM:601179 RAN skos:exactMatch hgnc:RAN semapv:UnspecifiedMatching +OMIM:601179 RAN skos:exactMatch hgnc.symbol:9846 semapv:UnspecifiedMatching +OMIM:601179 RAN skos:exactMatch hgnc.symbol:RAN semapv:UnspecifiedMatching OMIM:601179 RAN skos:exactMatch ncbigene:5901 semapv:UnspecifiedMatching -OMIM:601180 RANBP1 skos:exactMatch hgnc:RANBP1 semapv:UnspecifiedMatching +OMIM:601180 RANBP1 skos:exactMatch hgnc.symbol:9847 semapv:UnspecifiedMatching +OMIM:601180 RANBP1 skos:exactMatch hgnc.symbol:RANBP1 semapv:UnspecifiedMatching OMIM:601180 RANBP1 skos:exactMatch ncbigene:5902 semapv:UnspecifiedMatching -OMIM:601181 RANBP2 skos:exactMatch hgnc:RANBP2 semapv:UnspecifiedMatching +OMIM:601181 RANBP2 skos:exactMatch hgnc.symbol:9848 semapv:UnspecifiedMatching +OMIM:601181 RANBP2 skos:exactMatch hgnc.symbol:RANBP2 semapv:UnspecifiedMatching OMIM:601181 RANBP2 skos:exactMatch ncbigene:5903 semapv:UnspecifiedMatching -OMIM:601182 ORC2 skos:exactMatch hgnc:ORC2 semapv:UnspecifiedMatching +OMIM:601182 ORC2 skos:exactMatch hgnc.symbol:8488 semapv:UnspecifiedMatching +OMIM:601182 ORC2 skos:exactMatch hgnc.symbol:ORC2 semapv:UnspecifiedMatching OMIM:601182 ORC2 skos:exactMatch ncbigene:4999 semapv:UnspecifiedMatching -OMIM:601183 CRIP2 skos:exactMatch hgnc:CRIP2 semapv:UnspecifiedMatching +OMIM:601183 CRIP2 skos:exactMatch hgnc.symbol:2361 semapv:UnspecifiedMatching +OMIM:601183 CRIP2 skos:exactMatch hgnc.symbol:CRIP2 semapv:UnspecifiedMatching OMIM:601183 CRIP2 skos:exactMatch ncbigene:1397 semapv:UnspecifiedMatching -OMIM:601184 DNAJC3 skos:exactMatch hgnc:DNAJC3 semapv:UnspecifiedMatching +OMIM:601184 DNAJC3 skos:exactMatch hgnc.symbol:9439 semapv:UnspecifiedMatching +OMIM:601184 DNAJC3 skos:exactMatch hgnc.symbol:DNAJC3 semapv:UnspecifiedMatching OMIM:601184 DNAJC3 skos:exactMatch ncbigene:5611 semapv:UnspecifiedMatching -OMIM:601185 STC1 skos:exactMatch hgnc:STC1 semapv:UnspecifiedMatching +OMIM:601185 STC1 skos:exactMatch hgnc.symbol:11373 semapv:UnspecifiedMatching +OMIM:601185 STC1 skos:exactMatch hgnc.symbol:STC1 semapv:UnspecifiedMatching OMIM:601185 STC1 skos:exactMatch ncbigene:6781 semapv:UnspecifiedMatching -OMIM:601189 POLR2L skos:exactMatch hgnc:POLR2L semapv:UnspecifiedMatching +OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:9199 semapv:UnspecifiedMatching +OMIM:601189 POLR2L skos:exactMatch hgnc.symbol:POLR2L semapv:UnspecifiedMatching OMIM:601189 POLR2L skos:exactMatch ncbigene:5441 semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch UMLS:C1418430 semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch UMLS:C1864900 semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch UMLS:C3552227 semapv:UnspecifiedMatching -OMIM:601190 PDE6H skos:exactMatch hgnc:PDE6H semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:8790 semapv:UnspecifiedMatching +OMIM:601190 PDE6H skos:exactMatch hgnc.symbol:PDE6H semapv:UnspecifiedMatching OMIM:601190 PDE6H skos:exactMatch ncbigene:5149 semapv:UnspecifiedMatching OMIM:601191 ERH skos:exactMatch UMLS:C1414443 semapv:UnspecifiedMatching -OMIM:601191 ERH skos:exactMatch hgnc:ERH semapv:UnspecifiedMatching +OMIM:601191 ERH skos:exactMatch hgnc.symbol:3447 semapv:UnspecifiedMatching +OMIM:601191 ERH skos:exactMatch hgnc.symbol:ERH semapv:UnspecifiedMatching OMIM:601191 ERH skos:exactMatch ncbigene:2079 semapv:UnspecifiedMatching -OMIM:601192 PLA2G5 skos:exactMatch hgnc:PLA2G5 semapv:UnspecifiedMatching +OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:9038 semapv:UnspecifiedMatching +OMIM:601192 PLA2G5 skos:exactMatch hgnc.symbol:PLA2G5 semapv:UnspecifiedMatching OMIM:601192 PLA2G5 skos:exactMatch ncbigene:5322 semapv:UnspecifiedMatching -OMIM:601193 CRISP1 skos:exactMatch hgnc:CRISP1 semapv:UnspecifiedMatching +OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:304 semapv:UnspecifiedMatching +OMIM:601193 CRISP1 skos:exactMatch hgnc.symbol:CRISP1 semapv:UnspecifiedMatching OMIM:601193 CRISP1 skos:exactMatch ncbigene:167 semapv:UnspecifiedMatching -OMIM:601194 TLR1 skos:exactMatch hgnc:TLR1 semapv:UnspecifiedMatching +OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:11847 semapv:UnspecifiedMatching +OMIM:601194 TLR1 skos:exactMatch hgnc.symbol:TLR1 semapv:UnspecifiedMatching OMIM:601194 TLR1 skos:exactMatch ncbigene:7096 semapv:UnspecifiedMatching -OMIM:601196 PRDM2 skos:exactMatch hgnc:PRDM2 semapv:UnspecifiedMatching +OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:9347 semapv:UnspecifiedMatching +OMIM:601196 PRDM2 skos:exactMatch hgnc.symbol:PRDM2 semapv:UnspecifiedMatching OMIM:601196 PRDM2 skos:exactMatch ncbigene:7799 semapv:UnspecifiedMatching -OMIM:601197 TUB skos:exactMatch hgnc:TUB semapv:UnspecifiedMatching +OMIM:601197 TUB skos:exactMatch hgnc.symbol:12406 semapv:UnspecifiedMatching +OMIM:601197 TUB skos:exactMatch hgnc.symbol:TUB semapv:UnspecifiedMatching OMIM:601197 TUB skos:exactMatch ncbigene:7275 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:112 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:2238 semapv:UnspecifiedMatching +OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch Orphanet:428 semapv:UnspecifiedMatching OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C3715128 semapv:UnspecifiedMatching OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch UMLS:C4048195 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch orphanet.ordo:112 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch orphanet.ordo:2238 semapv:UnspecifiedMatching -OMIM:601198 hypocalcemia, autosomal dominant 1 skos:exactMatch orphanet.ordo:428 semapv:UnspecifiedMatching -OMIM:601199 CASR skos:exactMatch hgnc:CASR semapv:UnspecifiedMatching +OMIM:601199 CASR skos:exactMatch hgnc.symbol:1514 semapv:UnspecifiedMatching +OMIM:601199 CASR skos:exactMatch hgnc.symbol:CASR semapv:UnspecifiedMatching OMIM:601199 CASR skos:exactMatch ncbigene:846 semapv:UnspecifiedMatching OMIM:601201 methylation modifier for class 1 hla skos:exactMatch ncbigene:7795 semapv:UnspecifiedMatching -OMIM:601203 IL1RL1 skos:exactMatch hgnc:IL1RL1 semapv:UnspecifiedMatching +OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:5998 semapv:UnspecifiedMatching +OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:IL1RL1 semapv:UnspecifiedMatching OMIM:601203 IL1RL1 skos:exactMatch ncbigene:9173 semapv:UnspecifiedMatching -OMIM:601204 PTGFRN skos:exactMatch hgnc:PTGFRN semapv:UnspecifiedMatching +OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:9601 semapv:UnspecifiedMatching +OMIM:601204 PTGFRN skos:exactMatch hgnc.symbol:PTGFRN semapv:UnspecifiedMatching OMIM:601204 PTGFRN skos:exactMatch ncbigene:5738 semapv:UnspecifiedMatching -OMIM:601205 SIX1 skos:exactMatch hgnc:SIX1 semapv:UnspecifiedMatching +OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:10887 semapv:UnspecifiedMatching +OMIM:601205 SIX1 skos:exactMatch hgnc.symbol:SIX1 semapv:UnspecifiedMatching OMIM:601205 SIX1 skos:exactMatch ncbigene:6495 semapv:UnspecifiedMatching -OMIM:601206 POU2AF1 skos:exactMatch hgnc:POU2AF1 semapv:UnspecifiedMatching +OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:9211 semapv:UnspecifiedMatching +OMIM:601206 POU2AF1 skos:exactMatch hgnc.symbol:POU2AF1 semapv:UnspecifiedMatching OMIM:601206 POU2AF1 skos:exactMatch ncbigene:5450 semapv:UnspecifiedMatching -OMIM:601207 DGKQ skos:exactMatch hgnc:DGKQ semapv:UnspecifiedMatching +OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:2856 semapv:UnspecifiedMatching +OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:DGKQ semapv:UnspecifiedMatching OMIM:601207 DGKQ skos:exactMatch ncbigene:1609 semapv:UnspecifiedMatching OMIM:601208 iia 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching -OMIM:601209 PCBP1 skos:exactMatch hgnc:PCBP1 semapv:UnspecifiedMatching +OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:8647 semapv:UnspecifiedMatching +OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:PCBP1 semapv:UnspecifiedMatching OMIM:601209 PCBP1 skos:exactMatch ncbigene:5093 semapv:UnspecifiedMatching -OMIM:601210 PCBP2 skos:exactMatch hgnc:PCBP2 semapv:UnspecifiedMatching +OMIM:601210 PCBP2 skos:exactMatch hgnc.symbol:8648 semapv:UnspecifiedMatching +OMIM:601210 PCBP2 skos:exactMatch hgnc.symbol:PCBP2 semapv:UnspecifiedMatching OMIM:601210 PCBP2 skos:exactMatch ncbigene:5094 semapv:UnspecifiedMatching -OMIM:601211 ADGRE5 skos:exactMatch hgnc:ADGRE5 semapv:UnspecifiedMatching +OMIM:601211 ADGRE5 skos:exactMatch hgnc.symbol:1711 semapv:UnspecifiedMatching +OMIM:601211 ADGRE5 skos:exactMatch hgnc.symbol:ADGRE5 semapv:UnspecifiedMatching OMIM:601211 ADGRE5 skos:exactMatch ncbigene:976 semapv:UnspecifiedMatching -OMIM:601212 PTK2B skos:exactMatch hgnc:PTK2B semapv:UnspecifiedMatching +OMIM:601212 PTK2B skos:exactMatch hgnc.symbol:9612 semapv:UnspecifiedMatching +OMIM:601212 PTK2B skos:exactMatch hgnc.symbol:PTK2B semapv:UnspecifiedMatching OMIM:601212 PTK2B skos:exactMatch ncbigene:2185 semapv:UnspecifiedMatching -OMIM:601213 RNS4I skos:exactMatch hgnc:ABCE1 semapv:UnspecifiedMatching +OMIM:601213 RNS4I skos:exactMatch hgnc.symbol:69 semapv:UnspecifiedMatching +OMIM:601213 RNS4I skos:exactMatch hgnc.symbol:ABCE1 semapv:UnspecifiedMatching OMIM:601213 RNS4I skos:exactMatch ncbigene:6059 semapv:UnspecifiedMatching OMIM:601215 ATR skos:exactMatch UMLS:C1332120 semapv:UnspecifiedMatching OMIM:601215 ATR skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching OMIM:601215 ATR skos:exactMatch UMLS:C4551474 semapv:UnspecifiedMatching -OMIM:601215 ATR skos:exactMatch hgnc:ATR semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch hgnc.symbol:882 semapv:UnspecifiedMatching +OMIM:601215 ATR skos:exactMatch hgnc.symbol:ATR semapv:UnspecifiedMatching OMIM:601215 ATR skos:exactMatch ncbigene:545 semapv:UnspecifiedMatching OMIM:601218 ADARB1 skos:exactMatch UMLS:C1412216 semapv:UnspecifiedMatching OMIM:601218 ADARB1 skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching -OMIM:601218 ADARB1 skos:exactMatch hgnc:ADARB1 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:226 semapv:UnspecifiedMatching +OMIM:601218 ADARB1 skos:exactMatch hgnc.symbol:ADARB1 semapv:UnspecifiedMatching OMIM:601218 ADARB1 skos:exactMatch ncbigene:104 semapv:UnspecifiedMatching +OMIM:601224 potocki-shaffer syndrome skos:exactMatch Orphanet:52022 semapv:UnspecifiedMatching OMIM:601224 potocki-shaffer syndrome skos:exactMatch UMLS:C1832588 semapv:UnspecifiedMatching -OMIM:601224 potocki-shaffer syndrome skos:exactMatch orphanet.ordo:52022 semapv:UnspecifiedMatching -OMIM:601225 DVL1L1 skos:exactMatch hgnc:DVL1P1 semapv:UnspecifiedMatching +OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:3085 semapv:UnspecifiedMatching +OMIM:601225 DVL1L1 skos:exactMatch hgnc.symbol:DVL1P1 semapv:UnspecifiedMatching OMIM:601225 DVL1L1 skos:exactMatch ncbigene:8215 semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch UMLS:C1414805 semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch UMLS:C4225259 semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:601231 MTOR skos:exactMatch hgnc:MTOR semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch hgnc.symbol:3942 semapv:UnspecifiedMatching +OMIM:601231 MTOR skos:exactMatch hgnc.symbol:MTOR semapv:UnspecifiedMatching OMIM:601231 MTOR skos:exactMatch ncbigene:2475 semapv:UnspecifiedMatching -OMIM:601232 PIK3CG skos:exactMatch hgnc:PIK3CG semapv:UnspecifiedMatching +OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:8978 semapv:UnspecifiedMatching +OMIM:601232 PIK3CG skos:exactMatch hgnc.symbol:PIK3CG semapv:UnspecifiedMatching OMIM:601232 PIK3CG skos:exactMatch ncbigene:5294 semapv:UnspecifiedMatching -OMIM:601233 INHBC skos:exactMatch hgnc:INHBC semapv:UnspecifiedMatching +OMIM:601233 INHBC skos:exactMatch hgnc.symbol:6068 semapv:UnspecifiedMatching +OMIM:601233 INHBC skos:exactMatch hgnc.symbol:INHBC semapv:UnspecifiedMatching OMIM:601233 INHBC skos:exactMatch ncbigene:3626 semapv:UnspecifiedMatching -OMIM:601234 NACA skos:exactMatch hgnc:NACA semapv:UnspecifiedMatching +OMIM:601234 NACA skos:exactMatch hgnc.symbol:7629 semapv:UnspecifiedMatching +OMIM:601234 NACA skos:exactMatch hgnc.symbol:NACA semapv:UnspecifiedMatching OMIM:601234 NACA skos:exactMatch ncbigene:4666 semapv:UnspecifiedMatching OMIM:601235 DDX10 skos:exactMatch UMLS:C1413952 semapv:UnspecifiedMatching -OMIM:601235 DDX10 skos:exactMatch hgnc:DDX10 semapv:UnspecifiedMatching +OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:2735 semapv:UnspecifiedMatching +OMIM:601235 DDX10 skos:exactMatch hgnc.symbol:DDX10 semapv:UnspecifiedMatching OMIM:601235 DDX10 skos:exactMatch ncbigene:1662 semapv:UnspecifiedMatching -OMIM:601236 DAB2 skos:exactMatch hgnc:DAB2 semapv:UnspecifiedMatching +OMIM:601236 DAB2 skos:exactMatch hgnc.symbol:2662 semapv:UnspecifiedMatching +OMIM:601236 DAB2 skos:exactMatch hgnc.symbol:DAB2 semapv:UnspecifiedMatching OMIM:601236 DAB2 skos:exactMatch ncbigene:1601 semapv:UnspecifiedMatching -OMIM:601237 RNF112 skos:exactMatch hgnc:RNF112 semapv:UnspecifiedMatching +OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:12968 semapv:UnspecifiedMatching +OMIM:601237 RNF112 skos:exactMatch hgnc.symbol:RNF112 semapv:UnspecifiedMatching OMIM:601237 RNF112 skos:exactMatch ncbigene:7732 semapv:UnspecifiedMatching -OMIM:601239 DTNA skos:exactMatch hgnc:DTNA semapv:UnspecifiedMatching +OMIM:601239 DTNA skos:exactMatch hgnc.symbol:3057 semapv:UnspecifiedMatching +OMIM:601239 DTNA skos:exactMatch hgnc.symbol:DTNA semapv:UnspecifiedMatching OMIM:601239 DTNA skos:exactMatch ncbigene:1837 semapv:UnspecifiedMatching OMIM:601240 GAMT skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching OMIM:601240 GAMT skos:exactMatch UMLS:C1414963 semapv:UnspecifiedMatching -OMIM:601240 GAMT skos:exactMatch hgnc:GAMT semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch hgnc.symbol:4136 semapv:UnspecifiedMatching +OMIM:601240 GAMT skos:exactMatch hgnc.symbol:GAMT semapv:UnspecifiedMatching OMIM:601240 GAMT skos:exactMatch ncbigene:2593 semapv:UnspecifiedMatching -OMIM:601241 HDAC1 skos:exactMatch hgnc:HDAC1 semapv:UnspecifiedMatching +OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:4852 semapv:UnspecifiedMatching +OMIM:601241 HDAC1 skos:exactMatch hgnc.symbol:HDAC1 semapv:UnspecifiedMatching OMIM:601241 HDAC1 skos:exactMatch ncbigene:3065 semapv:UnspecifiedMatching -OMIM:601242 MAP1LC3A skos:exactMatch hgnc:MAP1LC3A semapv:UnspecifiedMatching +OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:6838 semapv:UnspecifiedMatching +OMIM:601242 MAP1LC3A skos:exactMatch hgnc.symbol:MAP1LC3A semapv:UnspecifiedMatching OMIM:601242 MAP1LC3A skos:exactMatch ncbigene:84557 semapv:UnspecifiedMatching -OMIM:601243 TOP3A skos:exactMatch hgnc:TOP3A semapv:UnspecifiedMatching +OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:11992 semapv:UnspecifiedMatching +OMIM:601243 TOP3A skos:exactMatch hgnc.symbol:TOP3A semapv:UnspecifiedMatching OMIM:601243 TOP3A skos:exactMatch ncbigene:7156 semapv:UnspecifiedMatching -OMIM:601244 GUCY1A2 skos:exactMatch hgnc:GUCY1A2 semapv:UnspecifiedMatching +OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:4684 semapv:UnspecifiedMatching +OMIM:601244 GUCY1A2 skos:exactMatch hgnc.symbol:GUCY1A2 semapv:UnspecifiedMatching OMIM:601244 GUCY1A2 skos:exactMatch ncbigene:2977 semapv:UnspecifiedMatching -OMIM:601245 CHAF1B skos:exactMatch hgnc:CHAF1B semapv:UnspecifiedMatching +OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:1911 semapv:UnspecifiedMatching +OMIM:601245 CHAF1B skos:exactMatch hgnc.symbol:CHAF1B semapv:UnspecifiedMatching OMIM:601245 CHAF1B skos:exactMatch ncbigene:8208 semapv:UnspecifiedMatching -OMIM:601246 CHAF1A skos:exactMatch hgnc:CHAF1A semapv:UnspecifiedMatching +OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:1910 semapv:UnspecifiedMatching +OMIM:601246 CHAF1A skos:exactMatch hgnc.symbol:CHAF1A semapv:UnspecifiedMatching OMIM:601246 CHAF1A skos:exactMatch ncbigene:10036 semapv:UnspecifiedMatching -OMIM:601247 SOS2 skos:exactMatch hgnc:SOS2 semapv:UnspecifiedMatching +OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:11188 semapv:UnspecifiedMatching +OMIM:601247 SOS2 skos:exactMatch hgnc.symbol:SOS2 semapv:UnspecifiedMatching OMIM:601247 SOS2 skos:exactMatch ncbigene:6655 semapv:UnspecifiedMatching OMIM:601248 BIN1 skos:exactMatch UMLS:C0410204 semapv:UnspecifiedMatching OMIM:601248 BIN1 skos:exactMatch UMLS:C1332412 semapv:UnspecifiedMatching -OMIM:601248 BIN1 skos:exactMatch hgnc:BIN1 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:1052 semapv:UnspecifiedMatching +OMIM:601248 BIN1 skos:exactMatch hgnc.symbol:BIN1 semapv:UnspecifiedMatching OMIM:601248 BIN1 skos:exactMatch ncbigene:274 semapv:UnspecifiedMatching -OMIM:601249 PRPSAP1 skos:exactMatch hgnc:PRPSAP1 semapv:UnspecifiedMatching +OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:9466 semapv:UnspecifiedMatching +OMIM:601249 PRPSAP1 skos:exactMatch hgnc.symbol:PRPSAP1 semapv:UnspecifiedMatching OMIM:601249 PRPSAP1 skos:exactMatch ncbigene:5635 semapv:UnspecifiedMatching -OMIM:601250 MSRA skos:exactMatch hgnc:MSRA semapv:UnspecifiedMatching +OMIM:601250 MSRA skos:exactMatch hgnc.symbol:7377 semapv:UnspecifiedMatching +OMIM:601250 MSRA skos:exactMatch hgnc.symbol:MSRA semapv:UnspecifiedMatching OMIM:601250 MSRA skos:exactMatch ncbigene:4482 semapv:UnspecifiedMatching -OMIM:601252 FCN1 skos:exactMatch hgnc:FCN1 semapv:UnspecifiedMatching +OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:3623 semapv:UnspecifiedMatching +OMIM:601252 FCN1 skos:exactMatch hgnc.symbol:FCN1 semapv:UnspecifiedMatching OMIM:601252 FCN1 skos:exactMatch ncbigene:2219 semapv:UnspecifiedMatching -OMIM:601253 CAV3 skos:exactMatch hgnc:CAV3 semapv:UnspecifiedMatching +OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:1529 semapv:UnspecifiedMatching +OMIM:601253 CAV3 skos:exactMatch hgnc.symbol:CAV3 semapv:UnspecifiedMatching OMIM:601253 CAV3 skos:exactMatch ncbigene:859 semapv:UnspecifiedMatching OMIM:601254 MAP2K6 skos:exactMatch UMLS:C1334475 semapv:UnspecifiedMatching -OMIM:601254 MAP2K6 skos:exactMatch hgnc:MAP2K6 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:6846 semapv:UnspecifiedMatching +OMIM:601254 MAP2K6 skos:exactMatch hgnc.symbol:MAP2K6 semapv:UnspecifiedMatching OMIM:601254 MAP2K6 skos:exactMatch ncbigene:5608 semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch UMLS:C1412698 semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch UMLS:C1835896 semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch UMLS:C3280168 semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching -OMIM:601255 KIF1A skos:exactMatch hgnc:KIF1A semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:888 semapv:UnspecifiedMatching +OMIM:601255 KIF1A skos:exactMatch hgnc.symbol:KIF1A semapv:UnspecifiedMatching OMIM:601255 KIF1A skos:exactMatch ncbigene:547 semapv:UnspecifiedMatching OMIM:601257 DDX1 skos:exactMatch UMLS:C1333209 semapv:UnspecifiedMatching -OMIM:601257 DDX1 skos:exactMatch hgnc:DDX1 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:2734 semapv:UnspecifiedMatching +OMIM:601257 DDX1 skos:exactMatch hgnc.symbol:DDX1 semapv:UnspecifiedMatching OMIM:601257 DDX1 skos:exactMatch ncbigene:1653 semapv:UnspecifiedMatching -OMIM:601258 CYP2J2 skos:exactMatch hgnc:CYP2J2 semapv:UnspecifiedMatching +OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:2634 semapv:UnspecifiedMatching +OMIM:601258 CYP2J2 skos:exactMatch hgnc.symbol:CYP2J2 semapv:UnspecifiedMatching OMIM:601258 CYP2J2 skos:exactMatch ncbigene:1573 semapv:UnspecifiedMatching -OMIM:601259 AMBN skos:exactMatch hgnc:AMBN semapv:UnspecifiedMatching +OMIM:601259 AMBN skos:exactMatch hgnc.symbol:452 semapv:UnspecifiedMatching +OMIM:601259 AMBN skos:exactMatch hgnc.symbol:AMBN semapv:UnspecifiedMatching OMIM:601259 AMBN skos:exactMatch ncbigene:258 semapv:UnspecifiedMatching -OMIM:601260 ZKSCAN1 skos:exactMatch hgnc:ZKSCAN1 semapv:UnspecifiedMatching +OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:13101 semapv:UnspecifiedMatching +OMIM:601260 ZKSCAN1 skos:exactMatch hgnc.symbol:ZKSCAN1 semapv:UnspecifiedMatching OMIM:601260 ZKSCAN1 skos:exactMatch ncbigene:7586 semapv:UnspecifiedMatching -OMIM:601261 ZSCAN21 skos:exactMatch hgnc:ZSCAN21 semapv:UnspecifiedMatching +OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:13104 semapv:UnspecifiedMatching +OMIM:601261 ZSCAN21 skos:exactMatch hgnc.symbol:ZSCAN21 semapv:UnspecifiedMatching OMIM:601261 ZSCAN21 skos:exactMatch ncbigene:7589 semapv:UnspecifiedMatching -OMIM:601262 ZNF16 skos:exactMatch hgnc:ZNF16 semapv:UnspecifiedMatching +OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:12947 semapv:UnspecifiedMatching +OMIM:601262 ZNF16 skos:exactMatch hgnc.symbol:ZNF16 semapv:UnspecifiedMatching OMIM:601262 ZNF16 skos:exactMatch ncbigene:7564 semapv:UnspecifiedMatching -OMIM:601263 MAP2K2 skos:exactMatch hgnc:MAP2K2 semapv:UnspecifiedMatching +OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:6842 semapv:UnspecifiedMatching +OMIM:601263 MAP2K2 skos:exactMatch hgnc.symbol:MAP2K2 semapv:UnspecifiedMatching OMIM:601263 MAP2K2 skos:exactMatch ncbigene:5605 semapv:UnspecifiedMatching -OMIM:601265 NODAL skos:exactMatch hgnc:NODAL semapv:UnspecifiedMatching +OMIM:601265 NODAL skos:exactMatch hgnc.symbol:7865 semapv:UnspecifiedMatching +OMIM:601265 NODAL skos:exactMatch hgnc.symbol:NODAL semapv:UnspecifiedMatching OMIM:601265 NODAL skos:exactMatch ncbigene:4838 semapv:UnspecifiedMatching -OMIM:601266 DUT skos:exactMatch hgnc:DUT semapv:UnspecifiedMatching +OMIM:601266 DUT skos:exactMatch hgnc.symbol:3078 semapv:UnspecifiedMatching +OMIM:601266 DUT skos:exactMatch hgnc.symbol:DUT semapv:UnspecifiedMatching OMIM:601266 DUT skos:exactMatch ncbigene:1854 semapv:UnspecifiedMatching -OMIM:601267 CCR2 skos:exactMatch hgnc:CCR2 semapv:UnspecifiedMatching +OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:1603 semapv:UnspecifiedMatching +OMIM:601267 CCR2 skos:exactMatch hgnc.symbol:CCR2 semapv:UnspecifiedMatching OMIM:601267 CCR2 skos:exactMatch ncbigene:729230 semapv:UnspecifiedMatching -OMIM:601268 CCR3 skos:exactMatch hgnc:CCR3 semapv:UnspecifiedMatching +OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:1604 semapv:UnspecifiedMatching +OMIM:601268 CCR3 skos:exactMatch hgnc.symbol:CCR3 semapv:UnspecifiedMatching OMIM:601268 CCR3 skos:exactMatch ncbigene:1232 semapv:UnspecifiedMatching -OMIM:601269 C1QBP skos:exactMatch hgnc:C1QBP semapv:UnspecifiedMatching +OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:1243 semapv:UnspecifiedMatching +OMIM:601269 C1QBP skos:exactMatch hgnc.symbol:C1QBP semapv:UnspecifiedMatching OMIM:601269 C1QBP skos:exactMatch ncbigene:708 semapv:UnspecifiedMatching -OMIM:601270 CYP4F3 skos:exactMatch hgnc:CYP4F3 semapv:UnspecifiedMatching +OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:2646 semapv:UnspecifiedMatching +OMIM:601270 CYP4F3 skos:exactMatch hgnc.symbol:CYP4F3 semapv:UnspecifiedMatching OMIM:601270 CYP4F3 skos:exactMatch ncbigene:4051 semapv:UnspecifiedMatching -OMIM:601271 GUCA2B skos:exactMatch hgnc:GUCA2B semapv:UnspecifiedMatching +OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:4683 semapv:UnspecifiedMatching +OMIM:601271 GUCA2B skos:exactMatch hgnc.symbol:GUCA2B semapv:UnspecifiedMatching OMIM:601271 GUCA2B skos:exactMatch ncbigene:2981 semapv:UnspecifiedMatching -OMIM:601272 SNX1 skos:exactMatch hgnc:SNX1 semapv:UnspecifiedMatching +OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:11172 semapv:UnspecifiedMatching +OMIM:601272 SNX1 skos:exactMatch hgnc.symbol:SNX1 semapv:UnspecifiedMatching OMIM:601272 SNX1 skos:exactMatch ncbigene:6642 semapv:UnspecifiedMatching -OMIM:601273 CLTCL1 skos:exactMatch hgnc:CLTCL1 semapv:UnspecifiedMatching +OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:2093 semapv:UnspecifiedMatching +OMIM:601273 CLTCL1 skos:exactMatch hgnc.symbol:CLTCL1 semapv:UnspecifiedMatching OMIM:601273 CLTCL1 skos:exactMatch ncbigene:8218 semapv:UnspecifiedMatching -OMIM:601274 PTGR1 skos:exactMatch hgnc:PTGR1 semapv:UnspecifiedMatching +OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:18429 semapv:UnspecifiedMatching +OMIM:601274 PTGR1 skos:exactMatch hgnc.symbol:PTGR1 semapv:UnspecifiedMatching OMIM:601274 PTGR1 skos:exactMatch ncbigene:22949 semapv:UnspecifiedMatching -OMIM:601275 GPM6A skos:exactMatch hgnc:GPM6A semapv:UnspecifiedMatching +OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:4460 semapv:UnspecifiedMatching +OMIM:601275 GPM6A skos:exactMatch hgnc.symbol:GPM6A semapv:UnspecifiedMatching OMIM:601275 GPM6A skos:exactMatch ncbigene:2823 semapv:UnspecifiedMatching -OMIM:601276 ZNF177 skos:exactMatch hgnc:ZNF177 semapv:UnspecifiedMatching +OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:12966 semapv:UnspecifiedMatching +OMIM:601276 ZNF177 skos:exactMatch hgnc.symbol:ZNF177 semapv:UnspecifiedMatching OMIM:601276 ZNF177 skos:exactMatch ncbigene:7730 semapv:UnspecifiedMatching -OMIM:601278 FRG1 skos:exactMatch hgnc:FRG1 semapv:UnspecifiedMatching +OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:3954 semapv:UnspecifiedMatching +OMIM:601278 FRG1 skos:exactMatch hgnc.symbol:FRG1 semapv:UnspecifiedMatching OMIM:601278 FRG1 skos:exactMatch ncbigene:2483 semapv:UnspecifiedMatching -OMIM:601279 DGCR6 skos:exactMatch hgnc:DGCR6 semapv:UnspecifiedMatching +OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:2846 semapv:UnspecifiedMatching +OMIM:601279 DGCR6 skos:exactMatch hgnc.symbol:DGCR6 semapv:UnspecifiedMatching OMIM:601279 DGCR6 skos:exactMatch ncbigene:8214 semapv:UnspecifiedMatching -OMIM:601280 MAB21L1 skos:exactMatch hgnc:MAB21L1 semapv:UnspecifiedMatching +OMIM:601280 MAB21L1 skos:exactMatch hgnc.symbol:6757 semapv:UnspecifiedMatching +OMIM:601280 MAB21L1 skos:exactMatch hgnc.symbol:MAB21L1 semapv:UnspecifiedMatching OMIM:601280 MAB21L1 skos:exactMatch ncbigene:4081 semapv:UnspecifiedMatching -OMIM:601281 SEMA3B skos:exactMatch hgnc:SEMA3B semapv:UnspecifiedMatching +OMIM:601281 SEMA3B skos:exactMatch hgnc.symbol:10724 semapv:UnspecifiedMatching +OMIM:601281 SEMA3B skos:exactMatch hgnc.symbol:SEMA3B semapv:UnspecifiedMatching OMIM:601281 SEMA3B skos:exactMatch ncbigene:7869 semapv:UnspecifiedMatching -OMIM:601282 PLEC skos:exactMatch hgnc:PLEC semapv:UnspecifiedMatching +OMIM:601282 PLEC skos:exactMatch hgnc.symbol:9069 semapv:UnspecifiedMatching +OMIM:601282 PLEC skos:exactMatch hgnc.symbol:PLEC semapv:UnspecifiedMatching OMIM:601282 PLEC skos:exactMatch ncbigene:5339 semapv:UnspecifiedMatching OMIM:601283 iia 2 diabetes mellitus 1 skos:exactMatch UMLS:C1832544 semapv:UnspecifiedMatching OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1366767 semapv:UnspecifiedMatching OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1832529 semapv:UnspecifiedMatching OMIM:601284 ACVRL1 skos:exactMatch UMLS:C1838163 semapv:UnspecifiedMatching -OMIM:601284 ACVRL1 skos:exactMatch hgnc:ACVRL1 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch hgnc.symbol:175 semapv:UnspecifiedMatching +OMIM:601284 ACVRL1 skos:exactMatch hgnc.symbol:ACVRL1 semapv:UnspecifiedMatching OMIM:601284 ACVRL1 skos:exactMatch ncbigene:94 semapv:UnspecifiedMatching -OMIM:601285 SEM1 skos:exactMatch hgnc:SEM1 semapv:UnspecifiedMatching +OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:10845 semapv:UnspecifiedMatching +OMIM:601285 SEM1 skos:exactMatch hgnc.symbol:SEM1 semapv:UnspecifiedMatching OMIM:601285 SEM1 skos:exactMatch ncbigene:7979 semapv:UnspecifiedMatching OMIM:601288 YWHAZ skos:exactMatch UMLS:C1421564 semapv:UnspecifiedMatching OMIM:601288 YWHAZ skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601288 YWHAZ skos:exactMatch hgnc:YWHAZ semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:12855 semapv:UnspecifiedMatching +OMIM:601288 YWHAZ skos:exactMatch hgnc.symbol:YWHAZ semapv:UnspecifiedMatching OMIM:601288 YWHAZ skos:exactMatch ncbigene:7534 semapv:UnspecifiedMatching -OMIM:601289 YWHAB skos:exactMatch hgnc:YWHAB semapv:UnspecifiedMatching +OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:12849 semapv:UnspecifiedMatching +OMIM:601289 YWHAB skos:exactMatch hgnc.symbol:YWHAB semapv:UnspecifiedMatching OMIM:601289 YWHAB skos:exactMatch ncbigene:7529 semapv:UnspecifiedMatching -OMIM:601290 SFN skos:exactMatch hgnc:SFN semapv:UnspecifiedMatching +OMIM:601290 SFN skos:exactMatch hgnc.symbol:10773 semapv:UnspecifiedMatching +OMIM:601290 SFN skos:exactMatch hgnc.symbol:SFN semapv:UnspecifiedMatching OMIM:601290 SFN skos:exactMatch ncbigene:2810 semapv:UnspecifiedMatching -OMIM:601291 UGT8 skos:exactMatch hgnc:UGT8 semapv:UnspecifiedMatching +OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:12555 semapv:UnspecifiedMatching +OMIM:601291 UGT8 skos:exactMatch hgnc.symbol:UGT8 semapv:UnspecifiedMatching OMIM:601291 UGT8 skos:exactMatch ncbigene:7368 semapv:UnspecifiedMatching -OMIM:601292 SULT1A2 skos:exactMatch hgnc:SULT1A2 semapv:UnspecifiedMatching +OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:11454 semapv:UnspecifiedMatching +OMIM:601292 SULT1A2 skos:exactMatch hgnc.symbol:SULT1A2 semapv:UnspecifiedMatching OMIM:601292 SULT1A2 skos:exactMatch ncbigene:6799 semapv:UnspecifiedMatching -OMIM:601293 RHEB skos:exactMatch hgnc:RHEB semapv:UnspecifiedMatching +OMIM:601293 RHEB skos:exactMatch hgnc.symbol:10011 semapv:UnspecifiedMatching +OMIM:601293 RHEB skos:exactMatch hgnc.symbol:RHEB semapv:UnspecifiedMatching OMIM:601293 RHEB skos:exactMatch ncbigene:6009 semapv:UnspecifiedMatching -OMIM:601295 SLC10A2 skos:exactMatch hgnc:SLC10A2 semapv:UnspecifiedMatching +OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:10906 semapv:UnspecifiedMatching +OMIM:601295 SLC10A2 skos:exactMatch hgnc.symbol:SLC10A2 semapv:UnspecifiedMatching OMIM:601295 SLC10A2 skos:exactMatch ncbigene:6555 semapv:UnspecifiedMatching -OMIM:601296 MUSK skos:exactMatch hgnc:MUSK semapv:UnspecifiedMatching +OMIM:601296 MUSK skos:exactMatch hgnc.symbol:7525 semapv:UnspecifiedMatching +OMIM:601296 MUSK skos:exactMatch hgnc.symbol:MUSK semapv:UnspecifiedMatching OMIM:601296 MUSK skos:exactMatch ncbigene:4593 semapv:UnspecifiedMatching -OMIM:601297 SOX15 skos:exactMatch hgnc:SOX15 semapv:UnspecifiedMatching +OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:11196 semapv:UnspecifiedMatching +OMIM:601297 SOX15 skos:exactMatch hgnc.symbol:SOX15 semapv:UnspecifiedMatching OMIM:601297 SOX15 skos:exactMatch ncbigene:6665 semapv:UnspecifiedMatching -OMIM:601299 BMPR1A skos:exactMatch hgnc:BMPR1A semapv:UnspecifiedMatching +OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:1076 semapv:UnspecifiedMatching +OMIM:601299 BMPR1A skos:exactMatch hgnc.symbol:BMPR1A semapv:UnspecifiedMatching OMIM:601299 BMPR1A skos:exactMatch ncbigene:657 semapv:UnspecifiedMatching -OMIM:601300 ACVR1B skos:exactMatch hgnc:ACVR1B semapv:UnspecifiedMatching +OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:172 semapv:UnspecifiedMatching +OMIM:601300 ACVR1B skos:exactMatch hgnc.symbol:ACVR1B semapv:UnspecifiedMatching OMIM:601300 ACVR1B skos:exactMatch ncbigene:91 semapv:UnspecifiedMatching -OMIM:601301 PPIL1 skos:exactMatch hgnc:PPIL1 semapv:UnspecifiedMatching +OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:9260 semapv:UnspecifiedMatching +OMIM:601301 PPIL1 skos:exactMatch hgnc.symbol:PPIL1 semapv:UnspecifiedMatching OMIM:601301 PPIL1 skos:exactMatch ncbigene:51645 semapv:UnspecifiedMatching -OMIM:601302 PPP3R1 skos:exactMatch hgnc:PPP3R1 semapv:UnspecifiedMatching +OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:9317 semapv:UnspecifiedMatching +OMIM:601302 PPP3R1 skos:exactMatch hgnc.symbol:PPP3R1 semapv:UnspecifiedMatching OMIM:601302 PPP3R1 skos:exactMatch ncbigene:5534 semapv:UnspecifiedMatching -OMIM:601303 CKAP1 skos:exactMatch hgnc:TBCB semapv:UnspecifiedMatching +OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:1989 semapv:UnspecifiedMatching +OMIM:601303 CKAP1 skos:exactMatch hgnc.symbol:TBCB semapv:UnspecifiedMatching OMIM:601303 CKAP1 skos:exactMatch ncbigene:1155 semapv:UnspecifiedMatching -OMIM:601304 SNU13 skos:exactMatch hgnc:SNU13 semapv:UnspecifiedMatching +OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:7819 semapv:UnspecifiedMatching +OMIM:601304 SNU13 skos:exactMatch hgnc.symbol:SNU13 semapv:UnspecifiedMatching OMIM:601304 SNU13 skos:exactMatch ncbigene:4809 semapv:UnspecifiedMatching -OMIM:601305 HTR5A skos:exactMatch hgnc:HTR5A semapv:UnspecifiedMatching +OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:5300 semapv:UnspecifiedMatching +OMIM:601305 HTR5A skos:exactMatch hgnc.symbol:HTR5A semapv:UnspecifiedMatching OMIM:601305 HTR5A skos:exactMatch ncbigene:3361 semapv:UnspecifiedMatching -OMIM:601306 HCLS1 skos:exactMatch hgnc:HCLS1 semapv:UnspecifiedMatching +OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:4844 semapv:UnspecifiedMatching +OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:HCLS1 semapv:UnspecifiedMatching OMIM:601306 HCLS1 skos:exactMatch ncbigene:3059 semapv:UnspecifiedMatching -OMIM:601309 PTCH1 skos:exactMatch hgnc:PTCH1 semapv:UnspecifiedMatching +OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:9585 semapv:UnspecifiedMatching +OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:PTCH1 semapv:UnspecifiedMatching OMIM:601309 PTCH1 skos:exactMatch ncbigene:5727 semapv:UnspecifiedMatching -OMIM:601310 CYP4A11 skos:exactMatch hgnc:CYP4A11 semapv:UnspecifiedMatching +OMIM:601310 CYP4A11 skos:exactMatch hgnc.symbol:2642 semapv:UnspecifiedMatching +OMIM:601310 CYP4A11 skos:exactMatch hgnc.symbol:CYP4A11 semapv:UnspecifiedMatching OMIM:601310 CYP4A11 skos:exactMatch ncbigene:1579 semapv:UnspecifiedMatching -OMIM:601311 SOAT2 skos:exactMatch hgnc:SOAT2 semapv:UnspecifiedMatching +OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:11178 semapv:UnspecifiedMatching +OMIM:601311 SOAT2 skos:exactMatch hgnc.symbol:SOAT2 semapv:UnspecifiedMatching OMIM:601311 SOAT2 skos:exactMatch ncbigene:8435 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch UMLS:C1418599 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch UMLS:C3149841 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch UMLS:C4016726 semapv:UnspecifiedMatching -OMIM:601313 PKD1 skos:exactMatch hgnc:PKD1 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:9008 semapv:UnspecifiedMatching +OMIM:601313 PKD1 skos:exactMatch hgnc.symbol:PKD1 semapv:UnspecifiedMatching OMIM:601313 PKD1 skos:exactMatch ncbigene:5310 semapv:UnspecifiedMatching -OMIM:601314 HINT1 skos:exactMatch hgnc:HINT1 semapv:UnspecifiedMatching +OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:4912 semapv:UnspecifiedMatching +OMIM:601314 HINT1 skos:exactMatch hgnc.symbol:HINT1 semapv:UnspecifiedMatching OMIM:601314 HINT1 skos:exactMatch ncbigene:3094 semapv:UnspecifiedMatching OMIM:601318 iia 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching -OMIM:601323 NUCB1 skos:exactMatch hgnc:NUCB1 semapv:UnspecifiedMatching +OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:8043 semapv:UnspecifiedMatching +OMIM:601323 NUCB1 skos:exactMatch hgnc.symbol:NUCB1 semapv:UnspecifiedMatching OMIM:601323 NUCB1 skos:exactMatch ncbigene:4924 semapv:UnspecifiedMatching -OMIM:601324 HNRNPD skos:exactMatch hgnc:HNRNPD semapv:UnspecifiedMatching +OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:5036 semapv:UnspecifiedMatching +OMIM:601324 HNRNPD skos:exactMatch hgnc.symbol:HNRNPD semapv:UnspecifiedMatching OMIM:601324 HNRNPD skos:exactMatch ncbigene:3184 semapv:UnspecifiedMatching -OMIM:601325 CNTN3 skos:exactMatch hgnc:CNTN3 semapv:UnspecifiedMatching +OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:2173 semapv:UnspecifiedMatching +OMIM:601325 CNTN3 skos:exactMatch hgnc.symbol:CNTN3 semapv:UnspecifiedMatching OMIM:601325 CNTN3 skos:exactMatch ncbigene:5067 semapv:UnspecifiedMatching -OMIM:601326 CLDN11 skos:exactMatch hgnc:CLDN11 semapv:UnspecifiedMatching +OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:8514 semapv:UnspecifiedMatching +OMIM:601326 CLDN11 skos:exactMatch hgnc.symbol:CLDN11 semapv:UnspecifiedMatching OMIM:601326 CLDN11 skos:exactMatch ncbigene:5010 semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch UMLS:C1419860 semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch UMLS:C3809312 semapv:UnspecifiedMatching -OMIM:601327 SCN2B skos:exactMatch hgnc:SCN2B semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:10589 semapv:UnspecifiedMatching +OMIM:601327 SCN2B skos:exactMatch hgnc.symbol:SCN2B semapv:UnspecifiedMatching OMIM:601327 SCN2B skos:exactMatch ncbigene:6327 semapv:UnspecifiedMatching OMIM:601328 SCNN1D skos:exactMatch UMLS:C1419870 semapv:UnspecifiedMatching -OMIM:601328 SCNN1D skos:exactMatch hgnc:SCNN1D semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:10601 semapv:UnspecifiedMatching +OMIM:601328 SCNN1D skos:exactMatch hgnc.symbol:SCNN1D semapv:UnspecifiedMatching OMIM:601328 SCNN1D skos:exactMatch ncbigene:6339 semapv:UnspecifiedMatching -OMIM:601329 LIMK1 skos:exactMatch hgnc:LIMK1 semapv:UnspecifiedMatching +OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:6613 semapv:UnspecifiedMatching +OMIM:601329 LIMK1 skos:exactMatch hgnc.symbol:LIMK1 semapv:UnspecifiedMatching OMIM:601329 LIMK1 skos:exactMatch ncbigene:3984 semapv:UnspecifiedMatching -OMIM:601330 GUCY2C skos:exactMatch hgnc:GUCY2C semapv:UnspecifiedMatching +OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:4688 semapv:UnspecifiedMatching +OMIM:601330 GUCY2C skos:exactMatch hgnc.symbol:GUCY2C semapv:UnspecifiedMatching OMIM:601330 GUCY2C skos:exactMatch ncbigene:2984 semapv:UnspecifiedMatching -OMIM:601332 MKX skos:exactMatch hgnc:MKX semapv:UnspecifiedMatching +OMIM:601332 MKX skos:exactMatch hgnc.symbol:23729 semapv:UnspecifiedMatching +OMIM:601332 MKX skos:exactMatch hgnc.symbol:MKX semapv:UnspecifiedMatching OMIM:601332 MKX skos:exactMatch ncbigene:283078 semapv:UnspecifiedMatching OMIM:601333 SUPT6H skos:exactMatch UMLS:C0812269 semapv:UnspecifiedMatching -OMIM:601333 SUPT6H skos:exactMatch hgnc:SUPT6H semapv:UnspecifiedMatching +OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:11470 semapv:UnspecifiedMatching +OMIM:601333 SUPT6H skos:exactMatch hgnc.symbol:SUPT6H semapv:UnspecifiedMatching OMIM:601333 SUPT6H skos:exactMatch ncbigene:6830 semapv:UnspecifiedMatching -OMIM:601334 KLC3 skos:exactMatch hgnc:KLC3 semapv:UnspecifiedMatching +OMIM:601334 KLC3 skos:exactMatch hgnc.symbol:20717 semapv:UnspecifiedMatching +OMIM:601334 KLC3 skos:exactMatch hgnc.symbol:KLC3 semapv:UnspecifiedMatching OMIM:601334 KLC3 skos:exactMatch ncbigene:147700 semapv:UnspecifiedMatching -OMIM:601335 MAP2K4 skos:exactMatch hgnc:MAP2K4 semapv:UnspecifiedMatching +OMIM:601335 MAP2K4 skos:exactMatch hgnc.symbol:6844 semapv:UnspecifiedMatching +OMIM:601335 MAP2K4 skos:exactMatch hgnc.symbol:MAP2K4 semapv:UnspecifiedMatching OMIM:601335 MAP2K4 skos:exactMatch ncbigene:6416 semapv:UnspecifiedMatching -OMIM:601336 MOGS skos:exactMatch hgnc:MOGS semapv:UnspecifiedMatching +OMIM:601336 MOGS skos:exactMatch hgnc.symbol:24862 semapv:UnspecifiedMatching +OMIM:601336 MOGS skos:exactMatch hgnc.symbol:MOGS semapv:UnspecifiedMatching OMIM:601336 MOGS skos:exactMatch ncbigene:7841 semapv:UnspecifiedMatching OMIM:601337 RFX3 skos:exactMatch UMLS:C1419361 semapv:UnspecifiedMatching -OMIM:601337 RFX3 skos:exactMatch hgnc:RFX3 semapv:UnspecifiedMatching +OMIM:601337 RFX3 skos:exactMatch hgnc.symbol:9984 semapv:UnspecifiedMatching +OMIM:601337 RFX3 skos:exactMatch hgnc.symbol:RFX3 semapv:UnspecifiedMatching OMIM:601337 RFX3 skos:exactMatch ncbigene:5991 semapv:UnspecifiedMatching -OMIM:601340 MIA skos:exactMatch hgnc:MIA semapv:UnspecifiedMatching +OMIM:601340 MIA skos:exactMatch hgnc.symbol:7076 semapv:UnspecifiedMatching +OMIM:601340 MIA skos:exactMatch hgnc.symbol:MIA semapv:UnspecifiedMatching OMIM:601340 MIA skos:exactMatch ncbigene:8190 semapv:UnspecifiedMatching -OMIM:601342 CSE1L skos:exactMatch hgnc:CSE1L semapv:UnspecifiedMatching +OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:2431 semapv:UnspecifiedMatching +OMIM:601342 CSE1L skos:exactMatch hgnc.symbol:CSE1L semapv:UnspecifiedMatching OMIM:601342 CSE1L skos:exactMatch ncbigene:1434 semapv:UnspecifiedMatching +OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch Orphanet:1027 semapv:UnspecifiedMatching OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching -OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome skos:exactMatch orphanet.ordo:1027 semapv:UnspecifiedMatching -OMIM:601361 GDF10 skos:exactMatch hgnc:GDF10 semapv:UnspecifiedMatching +OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:4215 semapv:UnspecifiedMatching +OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:GDF10 semapv:UnspecifiedMatching OMIM:601361 GDF10 skos:exactMatch ncbigene:2662 semapv:UnspecifiedMatching -OMIM:601364 CDH13 skos:exactMatch hgnc:CDH13 semapv:UnspecifiedMatching +OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:1753 semapv:UnspecifiedMatching +OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:CDH13 semapv:UnspecifiedMatching OMIM:601364 CDH13 skos:exactMatch ncbigene:1012 semapv:UnspecifiedMatching -OMIM:601365 DVL1 skos:exactMatch hgnc:DVL1 semapv:UnspecifiedMatching +OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:3084 semapv:UnspecifiedMatching +OMIM:601365 DVL1 skos:exactMatch hgnc.symbol:DVL1 semapv:UnspecifiedMatching OMIM:601365 DVL1 skos:exactMatch ncbigene:1855 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch UMLS:C1334468 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601366 SMAD2 skos:exactMatch hgnc:SMAD2 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:6768 semapv:UnspecifiedMatching +OMIM:601366 SMAD2 skos:exactMatch hgnc.symbol:SMAD2 semapv:UnspecifiedMatching OMIM:601366 SMAD2 skos:exactMatch ncbigene:4087 semapv:UnspecifiedMatching -OMIM:601368 DVL3 skos:exactMatch hgnc:DVL3 semapv:UnspecifiedMatching +OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:3087 semapv:UnspecifiedMatching +OMIM:601368 DVL3 skos:exactMatch hgnc.symbol:DVL3 semapv:UnspecifiedMatching OMIM:601368 DVL3 skos:exactMatch ncbigene:1857 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C1332700 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C1835867 semapv:UnspecifiedMatching @@ -11813,187 +15912,263 @@ OMIM:601373 CCR5 skos:exactMatch UMLS:C4016729 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C4016730 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C4016731 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch UMLS:C4017844 semapv:UnspecifiedMatching -OMIM:601373 CCR5 skos:exactMatch hgnc:CCR5 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:1606 semapv:UnspecifiedMatching +OMIM:601373 CCR5 skos:exactMatch hgnc.symbol:CCR5 semapv:UnspecifiedMatching OMIM:601373 CCR5 skos:exactMatch ncbigene:1234 semapv:UnspecifiedMatching -OMIM:601380 EFNA4 skos:exactMatch hgnc:EFNA4 semapv:UnspecifiedMatching +OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:3224 semapv:UnspecifiedMatching +OMIM:601380 EFNA4 skos:exactMatch hgnc.symbol:EFNA4 semapv:UnspecifiedMatching OMIM:601380 EFNA4 skos:exactMatch ncbigene:1945 semapv:UnspecifiedMatching -OMIM:601381 EFNA3 skos:exactMatch hgnc:EFNA3 semapv:UnspecifiedMatching +OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:3223 semapv:UnspecifiedMatching +OMIM:601381 EFNA3 skos:exactMatch hgnc.symbol:EFNA3 semapv:UnspecifiedMatching OMIM:601381 EFNA3 skos:exactMatch ncbigene:1944 semapv:UnspecifiedMatching -OMIM:601383 AQP6 skos:exactMatch hgnc:AQP6 semapv:UnspecifiedMatching +OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:639 semapv:UnspecifiedMatching +OMIM:601383 AQP6 skos:exactMatch hgnc.symbol:AQP6 semapv:UnspecifiedMatching OMIM:601383 AQP6 skos:exactMatch ncbigene:363 semapv:UnspecifiedMatching -OMIM:601384 LY6E skos:exactMatch hgnc:LY6E semapv:UnspecifiedMatching +OMIM:601384 LY6E skos:exactMatch hgnc.symbol:6727 semapv:UnspecifiedMatching +OMIM:601384 LY6E skos:exactMatch hgnc.symbol:LY6E semapv:UnspecifiedMatching OMIM:601384 LY6E skos:exactMatch ncbigene:4061 semapv:UnspecifiedMatching -OMIM:601385 TUSC3 skos:exactMatch hgnc:TUSC3 semapv:UnspecifiedMatching +OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:30242 semapv:UnspecifiedMatching +OMIM:601385 TUSC3 skos:exactMatch hgnc.symbol:TUSC3 semapv:UnspecifiedMatching OMIM:601385 TUSC3 skos:exactMatch ncbigene:7991 semapv:UnspecifiedMatching -OMIM:601387 TSG101 skos:exactMatch hgnc:TSG101 semapv:UnspecifiedMatching +OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:15971 semapv:UnspecifiedMatching +OMIM:601387 TSG101 skos:exactMatch hgnc.symbol:TSG101 semapv:UnspecifiedMatching OMIM:601387 TSG101 skos:exactMatch ncbigene:7251 semapv:UnspecifiedMatching OMIM:601388 iia 1 diabetes mellitus 12 skos:exactMatch UMLS:C1832392 semapv:UnspecifiedMatching -OMIM:601391 CCL13 skos:exactMatch hgnc:CCL13 semapv:UnspecifiedMatching +OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:10611 semapv:UnspecifiedMatching +OMIM:601391 CCL13 skos:exactMatch hgnc.symbol:CCL13 semapv:UnspecifiedMatching OMIM:601391 CCL13 skos:exactMatch ncbigene:6357 semapv:UnspecifiedMatching -OMIM:601392 CCL14 skos:exactMatch hgnc:CCL14 semapv:UnspecifiedMatching +OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:10612 semapv:UnspecifiedMatching +OMIM:601392 CCL14 skos:exactMatch hgnc.symbol:CCL14 semapv:UnspecifiedMatching OMIM:601392 CCL14 skos:exactMatch ncbigene:6358 semapv:UnspecifiedMatching -OMIM:601393 CCL15 skos:exactMatch hgnc:CCL15 semapv:UnspecifiedMatching +OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:10613 semapv:UnspecifiedMatching +OMIM:601393 CCL15 skos:exactMatch hgnc.symbol:CCL15 semapv:UnspecifiedMatching OMIM:601393 CCL15 skos:exactMatch ncbigene:6359 semapv:UnspecifiedMatching -OMIM:601394 CCL16 skos:exactMatch hgnc:CCL16 semapv:UnspecifiedMatching +OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:10614 semapv:UnspecifiedMatching +OMIM:601394 CCL16 skos:exactMatch hgnc.symbol:CCL16 semapv:UnspecifiedMatching OMIM:601394 CCL16 skos:exactMatch ncbigene:6360 semapv:UnspecifiedMatching -OMIM:601395 CCL3L1 skos:exactMatch hgnc:CCL3L1 semapv:UnspecifiedMatching +OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:10628 semapv:UnspecifiedMatching +OMIM:601395 CCL3L1 skos:exactMatch hgnc.symbol:CCL3L1 semapv:UnspecifiedMatching OMIM:601395 CCL3L1 skos:exactMatch ncbigene:6349 semapv:UnspecifiedMatching -OMIM:601396 WNT8B skos:exactMatch hgnc:WNT8B semapv:UnspecifiedMatching +OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:12789 semapv:UnspecifiedMatching +OMIM:601396 WNT8B skos:exactMatch hgnc.symbol:WNT8B semapv:UnspecifiedMatching OMIM:601396 WNT8B skos:exactMatch ncbigene:7479 semapv:UnspecifiedMatching OMIM:601397 TBXT skos:exactMatch UMLS:C1420562 semapv:UnspecifiedMatching OMIM:601397 TBXT skos:exactMatch UMLS:C3810343 semapv:UnspecifiedMatching OMIM:601397 TBXT skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching -OMIM:601397 TBXT skos:exactMatch hgnc:TBXT semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch hgnc.symbol:11515 semapv:UnspecifiedMatching +OMIM:601397 TBXT skos:exactMatch hgnc.symbol:TBXT semapv:UnspecifiedMatching OMIM:601397 TBXT skos:exactMatch ncbigene:6862 semapv:UnspecifiedMatching -OMIM:601398 VEGFB skos:exactMatch hgnc:VEGFB semapv:UnspecifiedMatching +OMIM:601398 VEGFB skos:exactMatch hgnc.symbol:12681 semapv:UnspecifiedMatching +OMIM:601398 VEGFB skos:exactMatch hgnc.symbol:VEGFB semapv:UnspecifiedMatching OMIM:601398 VEGFB skos:exactMatch ncbigene:7423 semapv:UnspecifiedMatching -OMIM:601401 MLF2 skos:exactMatch hgnc:MLF2 semapv:UnspecifiedMatching +OMIM:601401 MLF2 skos:exactMatch hgnc.symbol:7126 semapv:UnspecifiedMatching +OMIM:601401 MLF2 skos:exactMatch hgnc.symbol:MLF2 semapv:UnspecifiedMatching OMIM:601401 MLF2 skos:exactMatch ncbigene:8079 semapv:UnspecifiedMatching -OMIM:601402 MLF1 skos:exactMatch hgnc:MLF1 semapv:UnspecifiedMatching +OMIM:601402 MLF1 skos:exactMatch hgnc.symbol:7125 semapv:UnspecifiedMatching +OMIM:601402 MLF1 skos:exactMatch hgnc.symbol:MLF1 semapv:UnspecifiedMatching OMIM:601402 MLF1 skos:exactMatch ncbigene:4291 semapv:UnspecifiedMatching -OMIM:601403 DOCK1 skos:exactMatch hgnc:DOCK1 semapv:UnspecifiedMatching +OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:2987 semapv:UnspecifiedMatching +OMIM:601403 DOCK1 skos:exactMatch hgnc.symbol:DOCK1 semapv:UnspecifiedMatching OMIM:601403 DOCK1 skos:exactMatch ncbigene:1793 semapv:UnspecifiedMatching -OMIM:601404 GPR68 skos:exactMatch hgnc:GPR68 semapv:UnspecifiedMatching +OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:4519 semapv:UnspecifiedMatching +OMIM:601404 GPR68 skos:exactMatch hgnc.symbol:GPR68 semapv:UnspecifiedMatching OMIM:601404 GPR68 skos:exactMatch ncbigene:8111 semapv:UnspecifiedMatching -OMIM:601405 CTRC skos:exactMatch hgnc:CTRC semapv:UnspecifiedMatching +OMIM:601405 CTRC skos:exactMatch hgnc.symbol:2523 semapv:UnspecifiedMatching +OMIM:601405 CTRC skos:exactMatch hgnc.symbol:CTRC semapv:UnspecifiedMatching OMIM:601405 CTRC skos:exactMatch ncbigene:11330 semapv:UnspecifiedMatching -OMIM:601406 BCL7A skos:exactMatch hgnc:BCL7A semapv:UnspecifiedMatching +OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:1004 semapv:UnspecifiedMatching +OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:BCL7A semapv:UnspecifiedMatching OMIM:601406 BCL7A skos:exactMatch ncbigene:605 semapv:UnspecifiedMatching OMIM:601407 iia 2 diabetes mellitus 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch UMLS:C1421709 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching -OMIM:601408 KAT6A skos:exactMatch hgnc:KAT6A semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:13013 semapv:UnspecifiedMatching +OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:KAT6A semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch ncbigene:7994 semapv:UnspecifiedMatching OMIM:601409 KAT5 skos:exactMatch UMLS:C1333931 semapv:UnspecifiedMatching OMIM:601409 KAT5 skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching -OMIM:601409 KAT5 skos:exactMatch hgnc:KAT5 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:5275 semapv:UnspecifiedMatching +OMIM:601409 KAT5 skos:exactMatch hgnc.symbol:KAT5 semapv:UnspecifiedMatching OMIM:601409 KAT5 skos:exactMatch ncbigene:10524 semapv:UnspecifiedMatching +OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch UMLS:C1832386 semapv:UnspecifiedMatching -OMIM:601410 diabetes mellitus, transient neonatal, 1 skos:exactMatch orphanet.ordo:99886 semapv:UnspecifiedMatching -OMIM:601411 SGCD skos:exactMatch hgnc:SGCD semapv:UnspecifiedMatching +OMIM:601411 SGCD skos:exactMatch hgnc.symbol:10807 semapv:UnspecifiedMatching +OMIM:601411 SGCD skos:exactMatch hgnc.symbol:SGCD semapv:UnspecifiedMatching OMIM:601411 SGCD skos:exactMatch ncbigene:6444 semapv:UnspecifiedMatching +OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch UMLS:C1832379 semapv:UnspecifiedMatching -OMIM:601412 deafness, autosomal dominant 7 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching -OMIM:601413 DIO2 skos:exactMatch hgnc:DIO2 semapv:UnspecifiedMatching +OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:2884 semapv:UnspecifiedMatching +OMIM:601413 DIO2 skos:exactMatch hgnc.symbol:DIO2 semapv:UnspecifiedMatching OMIM:601413 DIO2 skos:exactMatch ncbigene:1734 semapv:UnspecifiedMatching -OMIM:601415 MYBL2 skos:exactMatch hgnc:MYBL2 semapv:UnspecifiedMatching +OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:7548 semapv:UnspecifiedMatching +OMIM:601415 MYBL2 skos:exactMatch hgnc.symbol:MYBL2 semapv:UnspecifiedMatching OMIM:601415 MYBL2 skos:exactMatch ncbigene:4605 semapv:UnspecifiedMatching -OMIM:601416 SLC39A7 skos:exactMatch hgnc:SLC39A7 semapv:UnspecifiedMatching +OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:4927 semapv:UnspecifiedMatching +OMIM:601416 SLC39A7 skos:exactMatch hgnc.symbol:SLC39A7 semapv:UnspecifiedMatching OMIM:601416 SLC39A7 skos:exactMatch ncbigene:7922 semapv:UnspecifiedMatching -OMIM:601417 HSD17B8 skos:exactMatch hgnc:HSD17B8 semapv:UnspecifiedMatching +OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:3554 semapv:UnspecifiedMatching +OMIM:601417 HSD17B8 skos:exactMatch hgnc.symbol:HSD17B8 semapv:UnspecifiedMatching OMIM:601417 HSD17B8 skos:exactMatch ncbigene:7923 semapv:UnspecifiedMatching -OMIM:601418 RRBP1 skos:exactMatch hgnc:RRBP1 semapv:UnspecifiedMatching +OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:10448 semapv:UnspecifiedMatching +OMIM:601418 RRBP1 skos:exactMatch hgnc.symbol:RRBP1 semapv:UnspecifiedMatching OMIM:601418 RRBP1 skos:exactMatch ncbigene:6238 semapv:UnspecifiedMatching +OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch Orphanet:98909 semapv:UnspecifiedMatching OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch UMLS:C1832370 semapv:UnspecifiedMatching -OMIM:601419 myopathy, myofibrillar, 1 skos:exactMatch orphanet.ordo:98909 semapv:UnspecifiedMatching -OMIM:601421 KARS1 skos:exactMatch hgnc:KARS1 semapv:UnspecifiedMatching +OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:6215 semapv:UnspecifiedMatching +OMIM:601421 KARS1 skos:exactMatch hgnc.symbol:KARS1 semapv:UnspecifiedMatching OMIM:601421 KARS1 skos:exactMatch ncbigene:3735 semapv:UnspecifiedMatching -OMIM:601422 LUZP1 skos:exactMatch hgnc:LUZP1 semapv:UnspecifiedMatching +OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:14985 semapv:UnspecifiedMatching +OMIM:601422 LUZP1 skos:exactMatch hgnc.symbol:LUZP1 semapv:UnspecifiedMatching OMIM:601422 LUZP1 skos:exactMatch ncbigene:7798 semapv:UnspecifiedMatching -OMIM:601423 TDG skos:exactMatch hgnc:TDG semapv:UnspecifiedMatching +OMIM:601423 TDG skos:exactMatch hgnc.symbol:11700 semapv:UnspecifiedMatching +OMIM:601423 TDG skos:exactMatch hgnc.symbol:TDG semapv:UnspecifiedMatching OMIM:601423 TDG skos:exactMatch ncbigene:6996 semapv:UnspecifiedMatching -OMIM:601424 OXCT1 skos:exactMatch hgnc:OXCT1 semapv:UnspecifiedMatching +OMIM:601424 OXCT1 skos:exactMatch hgnc.symbol:8527 semapv:UnspecifiedMatching +OMIM:601424 OXCT1 skos:exactMatch hgnc.symbol:OXCT1 semapv:UnspecifiedMatching OMIM:601424 OXCT1 skos:exactMatch ncbigene:5019 semapv:UnspecifiedMatching -OMIM:601425 TCEA1 skos:exactMatch hgnc:TCEA1 semapv:UnspecifiedMatching +OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:11612 semapv:UnspecifiedMatching +OMIM:601425 TCEA1 skos:exactMatch hgnc.symbol:TCEA1 semapv:UnspecifiedMatching OMIM:601425 TCEA1 skos:exactMatch ncbigene:6917 semapv:UnspecifiedMatching -OMIM:601426 NR2C2 skos:exactMatch hgnc:NR2C2 semapv:UnspecifiedMatching +OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:7972 semapv:UnspecifiedMatching +OMIM:601426 NR2C2 skos:exactMatch hgnc.symbol:NR2C2 semapv:UnspecifiedMatching OMIM:601426 NR2C2 skos:exactMatch ncbigene:7182 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C0796021 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1832361 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1846059 semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch UMLS:C1859452 semapv:UnspecifiedMatching -OMIM:601428 RNU4ATAC skos:exactMatch hgnc:RNU4ATAC semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:34016 semapv:UnspecifiedMatching +OMIM:601428 RNU4ATAC skos:exactMatch hgnc.symbol:RNU4ATAC semapv:UnspecifiedMatching OMIM:601428 RNU4ATAC skos:exactMatch ncbigene:100151683 semapv:UnspecifiedMatching -OMIM:601429 RNU6ATAC skos:exactMatch hgnc:RNU6ATAC semapv:UnspecifiedMatching +OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:34017 semapv:UnspecifiedMatching +OMIM:601429 RNU6ATAC skos:exactMatch hgnc.symbol:RNU6ATAC semapv:UnspecifiedMatching OMIM:601429 RNU6ATAC skos:exactMatch ncbigene:100151684 semapv:UnspecifiedMatching -OMIM:601430 UPF1 skos:exactMatch hgnc:UPF1 semapv:UnspecifiedMatching +OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:9962 semapv:UnspecifiedMatching +OMIM:601430 UPF1 skos:exactMatch hgnc.symbol:UPF1 semapv:UnspecifiedMatching OMIM:601430 UPF1 skos:exactMatch ncbigene:5976 semapv:UnspecifiedMatching OMIM:601431 TRA-TGC7-1 skos:exactMatch UMLS:C1420951 semapv:UnspecifiedMatching -OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc:TRA-TGC7-1 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:12098 semapv:UnspecifiedMatching +OMIM:601431 TRA-TGC7-1 skos:exactMatch hgnc.symbol:TRA-TGC7-1 semapv:UnspecifiedMatching OMIM:601431 TRA-TGC7-1 skos:exactMatch ncbigene:7154 semapv:UnspecifiedMatching -OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc:TRR-TCG4-1 semapv:UnspecifiedMatching +OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:12345 semapv:UnspecifiedMatching +OMIM:601432 TRR-TCG4-1 skos:exactMatch hgnc.symbol:TRR-TCG4-1 semapv:UnspecifiedMatching OMIM:601432 TRR-TCG4-1 skos:exactMatch ncbigene:7232 semapv:UnspecifiedMatching -OMIM:601434 SKP1 skos:exactMatch hgnc:SKP1 semapv:UnspecifiedMatching +OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:10899 semapv:UnspecifiedMatching +OMIM:601434 SKP1 skos:exactMatch hgnc.symbol:SKP1 semapv:UnspecifiedMatching OMIM:601434 SKP1 skos:exactMatch ncbigene:6500 semapv:UnspecifiedMatching -OMIM:601435 SKP1P2 skos:exactMatch hgnc:SKP1P2 semapv:UnspecifiedMatching +OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:10900 semapv:UnspecifiedMatching +OMIM:601435 SKP1P2 skos:exactMatch hgnc.symbol:SKP1P2 semapv:UnspecifiedMatching OMIM:601435 SKP1P2 skos:exactMatch ncbigene:728622 semapv:UnspecifiedMatching -OMIM:601436 SKP2 skos:exactMatch hgnc:SKP2 semapv:UnspecifiedMatching +OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:10901 semapv:UnspecifiedMatching +OMIM:601436 SKP2 skos:exactMatch hgnc.symbol:SKP2 semapv:UnspecifiedMatching OMIM:601436 SKP2 skos:exactMatch ncbigene:6502 semapv:UnspecifiedMatching OMIM:601437 FCGRT skos:exactMatch UMLS:C1414557 semapv:UnspecifiedMatching -OMIM:601437 FCGRT skos:exactMatch hgnc:FCGRT semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:3621 semapv:UnspecifiedMatching +OMIM:601437 FCGRT skos:exactMatch hgnc.symbol:FCGRT semapv:UnspecifiedMatching OMIM:601437 FCGRT skos:exactMatch ncbigene:2217 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch UMLS:C0795905 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch UMLS:C1412083 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch UMLS:C3279695 semapv:UnspecifiedMatching -OMIM:601439 ABCC9 skos:exactMatch hgnc:ABCC9 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:60 semapv:UnspecifiedMatching +OMIM:601439 ABCC9 skos:exactMatch hgnc.symbol:ABCC9 semapv:UnspecifiedMatching OMIM:601439 ABCC9 skos:exactMatch ncbigene:10060 semapv:UnspecifiedMatching -OMIM:601440 DGKE skos:exactMatch hgnc:DGKE semapv:UnspecifiedMatching +OMIM:601440 DGKE skos:exactMatch hgnc.symbol:2852 semapv:UnspecifiedMatching +OMIM:601440 DGKE skos:exactMatch hgnc.symbol:DGKE semapv:UnspecifiedMatching OMIM:601440 DGKE skos:exactMatch ncbigene:8526 semapv:UnspecifiedMatching -OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc:DGKZ semapv:UnspecifiedMatching +OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:2857 semapv:UnspecifiedMatching +OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch hgnc.symbol:DGKZ semapv:UnspecifiedMatching OMIM:601441 diacylglycerol kinase, zeta, 104-kd: dgkz skos:exactMatch ncbigene:8525 semapv:UnspecifiedMatching -OMIM:601442 CFL1 skos:exactMatch hgnc:CFL1 semapv:UnspecifiedMatching +OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:1874 semapv:UnspecifiedMatching +OMIM:601442 CFL1 skos:exactMatch hgnc.symbol:CFL1 semapv:UnspecifiedMatching OMIM:601442 CFL1 skos:exactMatch ncbigene:1072 semapv:UnspecifiedMatching -OMIM:601443 CFL2 skos:exactMatch hgnc:CFL2 semapv:UnspecifiedMatching +OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:1875 semapv:UnspecifiedMatching +OMIM:601443 CFL2 skos:exactMatch hgnc.symbol:CFL2 semapv:UnspecifiedMatching OMIM:601443 CFL2 skos:exactMatch ncbigene:1073 semapv:UnspecifiedMatching -OMIM:601444 BLOC1S1 skos:exactMatch hgnc:BLOC1S1 semapv:UnspecifiedMatching +OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:4200 semapv:UnspecifiedMatching +OMIM:601444 BLOC1S1 skos:exactMatch hgnc.symbol:BLOC1S1 semapv:UnspecifiedMatching OMIM:601444 BLOC1S1 skos:exactMatch ncbigene:2647 semapv:UnspecifiedMatching OMIM:601445 NDUFB9 skos:exactMatch UMLS:C1417641 semapv:UnspecifiedMatching OMIM:601445 NDUFB9 skos:exactMatch UMLS:C4748803 semapv:UnspecifiedMatching -OMIM:601445 NDUFB9 skos:exactMatch hgnc:NDUFB9 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:7704 semapv:UnspecifiedMatching +OMIM:601445 NDUFB9 skos:exactMatch hgnc.symbol:NDUFB9 semapv:UnspecifiedMatching OMIM:601445 NDUFB9 skos:exactMatch ncbigene:4715 semapv:UnspecifiedMatching -OMIM:601447 USP5 skos:exactMatch hgnc:USP5 semapv:UnspecifiedMatching +OMIM:601447 USP5 skos:exactMatch hgnc.symbol:12628 semapv:UnspecifiedMatching +OMIM:601447 USP5 skos:exactMatch hgnc.symbol:USP5 semapv:UnspecifiedMatching OMIM:601447 USP5 skos:exactMatch ncbigene:8078 semapv:UnspecifiedMatching -OMIM:601448 NPAT skos:exactMatch hgnc:NPAT semapv:UnspecifiedMatching +OMIM:601448 NPAT skos:exactMatch hgnc.symbol:7896 semapv:UnspecifiedMatching +OMIM:601448 NPAT skos:exactMatch hgnc.symbol:NPAT semapv:UnspecifiedMatching OMIM:601448 NPAT skos:exactMatch ncbigene:4863 semapv:UnspecifiedMatching -OMIM:601456 MMRN1 skos:exactMatch hgnc:MMRN1 semapv:UnspecifiedMatching +OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:7178 semapv:UnspecifiedMatching +OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:MMRN1 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch ncbigene:22915 semapv:UnspecifiedMatching -OMIM:601459 PNOC skos:exactMatch hgnc:PNOC semapv:UnspecifiedMatching +OMIM:601459 PNOC skos:exactMatch hgnc.symbol:9163 semapv:UnspecifiedMatching +OMIM:601459 PNOC skos:exactMatch hgnc.symbol:PNOC semapv:UnspecifiedMatching OMIM:601459 PNOC skos:exactMatch ncbigene:5368 semapv:UnspecifiedMatching -OMIM:601460 SLCO2A1 skos:exactMatch hgnc:SLCO2A1 semapv:UnspecifiedMatching +OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:10955 semapv:UnspecifiedMatching +OMIM:601460 SLCO2A1 skos:exactMatch hgnc.symbol:SLCO2A1 semapv:UnspecifiedMatching OMIM:601460 SLCO2A1 skos:exactMatch ncbigene:6578 semapv:UnspecifiedMatching -OMIM:601461 ATOH1 skos:exactMatch hgnc:ATOH1 semapv:UnspecifiedMatching +OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:797 semapv:UnspecifiedMatching +OMIM:601461 ATOH1 skos:exactMatch hgnc.symbol:ATOH1 semapv:UnspecifiedMatching OMIM:601461 ATOH1 skos:exactMatch ncbigene:474 semapv:UnspecifiedMatching -OMIM:601463 HAS1 skos:exactMatch hgnc:HAS1 semapv:UnspecifiedMatching +OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:4818 semapv:UnspecifiedMatching +OMIM:601463 HAS1 skos:exactMatch hgnc.symbol:HAS1 semapv:UnspecifiedMatching OMIM:601463 HAS1 skos:exactMatch ncbigene:3036 semapv:UnspecifiedMatching -OMIM:601464 AFF3 skos:exactMatch hgnc:AFF3 semapv:UnspecifiedMatching +OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:6473 semapv:UnspecifiedMatching +OMIM:601464 AFF3 skos:exactMatch hgnc.symbol:AFF3 semapv:UnspecifiedMatching OMIM:601464 AFF3 skos:exactMatch ncbigene:3899 semapv:UnspecifiedMatching -OMIM:601465 DGUOK skos:exactMatch hgnc:DGUOK semapv:UnspecifiedMatching +OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:2858 semapv:UnspecifiedMatching +OMIM:601465 DGUOK skos:exactMatch hgnc.symbol:DGUOK semapv:UnspecifiedMatching OMIM:601465 DGUOK skos:exactMatch ncbigene:1716 semapv:UnspecifiedMatching -OMIM:601467 MAD2L1 skos:exactMatch hgnc:MAD2L1 semapv:UnspecifiedMatching +OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:6763 semapv:UnspecifiedMatching +OMIM:601467 MAD2L1 skos:exactMatch hgnc.symbol:MAD2L1 semapv:UnspecifiedMatching OMIM:601467 MAD2L1 skos:exactMatch ncbigene:4085 semapv:UnspecifiedMatching -OMIM:601468 MAT2A skos:exactMatch hgnc:MAT2A semapv:UnspecifiedMatching +OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:6904 semapv:UnspecifiedMatching +OMIM:601468 MAT2A skos:exactMatch hgnc.symbol:MAT2A semapv:UnspecifiedMatching OMIM:601468 MAT2A skos:exactMatch ncbigene:4144 semapv:UnspecifiedMatching -OMIM:601469 PTH2R skos:exactMatch hgnc:PTH2R semapv:UnspecifiedMatching +OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:9609 semapv:UnspecifiedMatching +OMIM:601469 PTH2R skos:exactMatch hgnc.symbol:PTH2R semapv:UnspecifiedMatching OMIM:601469 PTH2R skos:exactMatch ncbigene:5746 semapv:UnspecifiedMatching -OMIM:601470 CX3CR1 skos:exactMatch hgnc:CX3CR1 semapv:UnspecifiedMatching +OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:2558 semapv:UnspecifiedMatching +OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:CX3CR1 semapv:UnspecifiedMatching OMIM:601470 CX3CR1 skos:exactMatch ncbigene:1524 semapv:UnspecifiedMatching +OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching -OMIM:601472 charcot-marie-tooth disease, axonal, iia 2d skos:exactMatch orphanet.ordo:99938 semapv:UnspecifiedMatching -OMIM:601473 ZNF75A skos:exactMatch hgnc:ZNF75A semapv:UnspecifiedMatching +OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:13146 semapv:UnspecifiedMatching +OMIM:601473 ZNF75A skos:exactMatch hgnc.symbol:ZNF75A semapv:UnspecifiedMatching OMIM:601473 ZNF75A skos:exactMatch ncbigene:7627 semapv:UnspecifiedMatching OMIM:601475 PWP2 skos:exactMatch UMLS:C1419145 semapv:UnspecifiedMatching -OMIM:601475 PWP2 skos:exactMatch hgnc:PWP2 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:9711 semapv:UnspecifiedMatching +OMIM:601475 PWP2 skos:exactMatch hgnc.symbol:PWP2 semapv:UnspecifiedMatching OMIM:601475 PWP2 skos:exactMatch ncbigene:5822 semapv:UnspecifiedMatching -OMIM:601476 LAPTM5 skos:exactMatch hgnc:LAPTM5 semapv:UnspecifiedMatching +OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:29612 semapv:UnspecifiedMatching +OMIM:601476 LAPTM5 skos:exactMatch hgnc.symbol:LAPTM5 semapv:UnspecifiedMatching OMIM:601476 LAPTM5 skos:exactMatch ncbigene:7805 semapv:UnspecifiedMatching -OMIM:601478 MYO1A skos:exactMatch hgnc:MYO1A semapv:UnspecifiedMatching +OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:7595 semapv:UnspecifiedMatching +OMIM:601478 MYO1A skos:exactMatch hgnc.symbol:MYO1A semapv:UnspecifiedMatching OMIM:601478 MYO1A skos:exactMatch ncbigene:4640 semapv:UnspecifiedMatching -OMIM:601479 MYO1E skos:exactMatch hgnc:MYO1E semapv:UnspecifiedMatching +OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:7599 semapv:UnspecifiedMatching +OMIM:601479 MYO1E skos:exactMatch hgnc.symbol:MYO1E semapv:UnspecifiedMatching OMIM:601479 MYO1E skos:exactMatch ncbigene:4643 semapv:UnspecifiedMatching -OMIM:601480 MYO1F skos:exactMatch hgnc:MYO1F semapv:UnspecifiedMatching +OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:7600 semapv:UnspecifiedMatching +OMIM:601480 MYO1F skos:exactMatch hgnc.symbol:MYO1F semapv:UnspecifiedMatching OMIM:601480 MYO1F skos:exactMatch ncbigene:4542 semapv:UnspecifiedMatching -OMIM:601481 MYO10 skos:exactMatch hgnc:MYO10 semapv:UnspecifiedMatching +OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:7593 semapv:UnspecifiedMatching +OMIM:601481 MYO10 skos:exactMatch hgnc.symbol:MYO10 semapv:UnspecifiedMatching OMIM:601481 MYO10 skos:exactMatch ncbigene:4651 semapv:UnspecifiedMatching -OMIM:601482 DR1 skos:exactMatch hgnc:DR1 semapv:UnspecifiedMatching +OMIM:601482 DR1 skos:exactMatch hgnc.symbol:3017 semapv:UnspecifiedMatching +OMIM:601482 DR1 skos:exactMatch hgnc.symbol:DR1 semapv:UnspecifiedMatching OMIM:601482 DR1 skos:exactMatch ncbigene:1810 semapv:UnspecifiedMatching -OMIM:601483 PEG3 skos:exactMatch hgnc:PEG3 semapv:UnspecifiedMatching +OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:8826 semapv:UnspecifiedMatching +OMIM:601483 PEG3 skos:exactMatch hgnc.symbol:PEG3 semapv:UnspecifiedMatching OMIM:601483 PEG3 skos:exactMatch ncbigene:5178 semapv:UnspecifiedMatching -OMIM:601484 SELENOP skos:exactMatch hgnc:SELENOP semapv:UnspecifiedMatching +OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:10751 semapv:UnspecifiedMatching +OMIM:601484 SELENOP skos:exactMatch hgnc.symbol:SELENOP semapv:UnspecifiedMatching OMIM:601484 SELENOP skos:exactMatch ncbigene:6414 semapv:UnspecifiedMatching -OMIM:601485 STX1B skos:exactMatch hgnc:STX1B semapv:UnspecifiedMatching +OMIM:601485 STX1B skos:exactMatch hgnc.symbol:18539 semapv:UnspecifiedMatching +OMIM:601485 STX1B skos:exactMatch hgnc.symbol:STX1B semapv:UnspecifiedMatching OMIM:601485 STX1B skos:exactMatch ncbigene:112755 semapv:UnspecifiedMatching -OMIM:601486 DAZL skos:exactMatch hgnc:DAZL semapv:UnspecifiedMatching +OMIM:601486 DAZL skos:exactMatch hgnc.symbol:2685 semapv:UnspecifiedMatching +OMIM:601486 DAZL skos:exactMatch hgnc.symbol:DAZL semapv:UnspecifiedMatching OMIM:601486 DAZL skos:exactMatch ncbigene:1618 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C0028756 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C1335238 semapv:UnspecifiedMatching @@ -12007,240 +16182,332 @@ OMIM:601487 PPARG skos:exactMatch UMLS:C4016737 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C4016738 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C5193186 semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch UMLS:C5436966 semapv:UnspecifiedMatching -OMIM:601487 PPARG skos:exactMatch hgnc:PPARG semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch hgnc.symbol:9236 semapv:UnspecifiedMatching +OMIM:601487 PPARG skos:exactMatch hgnc.symbol:PPARG semapv:UnspecifiedMatching OMIM:601487 PPARG skos:exactMatch ncbigene:5468 semapv:UnspecifiedMatching OMIM:601488 NCF4 skos:exactMatch UMLS:C1417610 semapv:UnspecifiedMatching OMIM:601488 NCF4 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching -OMIM:601488 NCF4 skos:exactMatch hgnc:NCF4 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:7662 semapv:UnspecifiedMatching +OMIM:601488 NCF4 skos:exactMatch hgnc.symbol:NCF4 semapv:UnspecifiedMatching OMIM:601488 NCF4 skos:exactMatch ncbigene:4689 semapv:UnspecifiedMatching OMIM:601489 IGFALS skos:exactMatch UMLS:C1456383 semapv:UnspecifiedMatching OMIM:601489 IGFALS skos:exactMatch UMLS:C3900122 semapv:UnspecifiedMatching -OMIM:601489 IGFALS skos:exactMatch hgnc:IGFALS semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:5468 semapv:UnspecifiedMatching +OMIM:601489 IGFALS skos:exactMatch hgnc.symbol:IGFALS semapv:UnspecifiedMatching OMIM:601489 IGFALS skos:exactMatch ncbigene:3483 semapv:UnspecifiedMatching -OMIM:601490 NFE2 skos:exactMatch hgnc:NFE2 semapv:UnspecifiedMatching +OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:7780 semapv:UnspecifiedMatching +OMIM:601490 NFE2 skos:exactMatch hgnc.symbol:NFE2 semapv:UnspecifiedMatching OMIM:601490 NFE2 skos:exactMatch ncbigene:4778 semapv:UnspecifiedMatching -OMIM:601491 IPW skos:exactMatch hgnc:IPW semapv:UnspecifiedMatching +OMIM:601491 IPW skos:exactMatch hgnc.symbol:6109 semapv:UnspecifiedMatching +OMIM:601491 IPW skos:exactMatch hgnc.symbol:IPW semapv:UnspecifiedMatching OMIM:601491 IPW skos:exactMatch ncbigene:3653 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching +OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch Orphanet:54260 semapv:UnspecifiedMatching OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C1832244 semapv:UnspecifiedMatching OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C3152137 semapv:UnspecifiedMatching OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch UMLS:C4225414 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch orphanet.ordo:154 semapv:UnspecifiedMatching -OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction skos:exactMatch orphanet.ordo:54260 semapv:UnspecifiedMatching -OMIM:601496 GFRA1 skos:exactMatch hgnc:GFRA1 semapv:UnspecifiedMatching +OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:4243 semapv:UnspecifiedMatching +OMIM:601496 GFRA1 skos:exactMatch hgnc.symbol:GFRA1 semapv:UnspecifiedMatching OMIM:601496 GFRA1 skos:exactMatch ncbigene:2674 semapv:UnspecifiedMatching -OMIM:601497 BAG1 skos:exactMatch hgnc:BAG1 semapv:UnspecifiedMatching +OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:937 semapv:UnspecifiedMatching +OMIM:601497 BAG1 skos:exactMatch hgnc.symbol:BAG1 semapv:UnspecifiedMatching OMIM:601497 BAG1 skos:exactMatch ncbigene:573 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C1418478 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C3553936 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C3553937 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch UMLS:C4693988 semapv:UnspecifiedMatching -OMIM:601498 PEX6 skos:exactMatch hgnc:PEX6 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:8859 semapv:UnspecifiedMatching +OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:PEX6 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch ncbigene:5190 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C1364142 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C4310933 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C5435677 semapv:UnspecifiedMatching -OMIM:601500 SMO skos:exactMatch hgnc:SMO semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch hgnc.symbol:11119 semapv:UnspecifiedMatching +OMIM:601500 SMO skos:exactMatch hgnc.symbol:SMO semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch ncbigene:6608 semapv:UnspecifiedMatching -OMIM:601501 VPS35 skos:exactMatch hgnc:VPS35 semapv:UnspecifiedMatching +OMIM:601501 VPS35 skos:exactMatch hgnc.symbol:13487 semapv:UnspecifiedMatching +OMIM:601501 VPS35 skos:exactMatch hgnc.symbol:VPS35 semapv:UnspecifiedMatching OMIM:601501 VPS35 skos:exactMatch ncbigene:55737 semapv:UnspecifiedMatching OMIM:601502 FCGR1B skos:exactMatch UMLS:C1414551 semapv:UnspecifiedMatching -OMIM:601502 FCGR1B skos:exactMatch hgnc:FCGR1BP semapv:UnspecifiedMatching +OMIM:601502 FCGR1B skos:exactMatch hgnc.symbol:3614 semapv:UnspecifiedMatching +OMIM:601502 FCGR1B skos:exactMatch hgnc.symbol:FCGR1BP semapv:UnspecifiedMatching OMIM:601502 FCGR1B skos:exactMatch ncbigene:2210 semapv:UnspecifiedMatching OMIM:601503 FCGR1CP skos:exactMatch UMLS:C1414552 semapv:UnspecifiedMatching -OMIM:601503 FCGR1CP skos:exactMatch hgnc:FCGR1CP semapv:UnspecifiedMatching +OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:3615 semapv:UnspecifiedMatching +OMIM:601503 FCGR1CP skos:exactMatch hgnc.symbol:FCGR1CP semapv:UnspecifiedMatching OMIM:601503 FCGR1CP skos:exactMatch ncbigene:100132417 semapv:UnspecifiedMatching -OMIM:601504 SEC14L1 skos:exactMatch hgnc:SEC14L1 semapv:UnspecifiedMatching +OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:10698 semapv:UnspecifiedMatching +OMIM:601504 SEC14L1 skos:exactMatch hgnc.symbol:SEC14L1 semapv:UnspecifiedMatching OMIM:601504 SEC14L1 skos:exactMatch ncbigene:6397 semapv:UnspecifiedMatching -OMIM:601505 ZNF146 skos:exactMatch hgnc:ZNF146 semapv:UnspecifiedMatching +OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:12931 semapv:UnspecifiedMatching +OMIM:601505 ZNF146 skos:exactMatch hgnc.symbol:ZNF146 semapv:UnspecifiedMatching OMIM:601505 ZNF146 skos:exactMatch ncbigene:7705 semapv:UnspecifiedMatching -OMIM:601506 SEPT2 skos:exactMatch hgnc:SEPTIN2 semapv:UnspecifiedMatching +OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:7729 semapv:UnspecifiedMatching +OMIM:601506 SEPT2 skos:exactMatch hgnc.symbol:SEPTIN2 semapv:UnspecifiedMatching OMIM:601506 SEPT2 skos:exactMatch ncbigene:4735 semapv:UnspecifiedMatching -OMIM:601507 AP3S1 skos:exactMatch hgnc:AP3S1 semapv:UnspecifiedMatching +OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:2013 semapv:UnspecifiedMatching +OMIM:601507 AP3S1 skos:exactMatch hgnc.symbol:AP3S1 semapv:UnspecifiedMatching OMIM:601507 AP3S1 skos:exactMatch ncbigene:1176 semapv:UnspecifiedMatching -OMIM:601509 GGH skos:exactMatch hgnc:GGH semapv:UnspecifiedMatching +OMIM:601509 GGH skos:exactMatch hgnc.symbol:4248 semapv:UnspecifiedMatching +OMIM:601509 GGH skos:exactMatch hgnc.symbol:GGH semapv:UnspecifiedMatching OMIM:601509 GGH skos:exactMatch ncbigene:8836 semapv:UnspecifiedMatching -OMIM:601510 SCAP skos:exactMatch hgnc:SCAP semapv:UnspecifiedMatching +OMIM:601510 SCAP skos:exactMatch hgnc.symbol:30634 semapv:UnspecifiedMatching +OMIM:601510 SCAP skos:exactMatch hgnc.symbol:SCAP semapv:UnspecifiedMatching OMIM:601510 SCAP skos:exactMatch ncbigene:22937 semapv:UnspecifiedMatching OMIM:601511 STAT5A skos:exactMatch UMLS:C1335875 semapv:UnspecifiedMatching -OMIM:601511 STAT5A skos:exactMatch hgnc:STAT5A semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:11366 semapv:UnspecifiedMatching +OMIM:601511 STAT5A skos:exactMatch hgnc.symbol:STAT5A semapv:UnspecifiedMatching OMIM:601511 STAT5A skos:exactMatch ncbigene:6776 semapv:UnspecifiedMatching -OMIM:601512 STAT6 skos:exactMatch hgnc:STAT6 semapv:UnspecifiedMatching +OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:11368 semapv:UnspecifiedMatching +OMIM:601512 STAT6 skos:exactMatch hgnc.symbol:STAT6 semapv:UnspecifiedMatching OMIM:601512 STAT6 skos:exactMatch ncbigene:6778 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch UMLS:C1414597 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching -OMIM:601513 FGF12 skos:exactMatch hgnc:FGF12 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:3668 semapv:UnspecifiedMatching +OMIM:601513 FGF12 skos:exactMatch hgnc.symbol:FGF12 semapv:UnspecifiedMatching OMIM:601513 FGF12 skos:exactMatch ncbigene:2257 semapv:UnspecifiedMatching -OMIM:601514 FGF11 skos:exactMatch hgnc:FGF11 semapv:UnspecifiedMatching +OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:3667 semapv:UnspecifiedMatching +OMIM:601514 FGF11 skos:exactMatch hgnc.symbol:FGF11 semapv:UnspecifiedMatching OMIM:601514 FGF11 skos:exactMatch ncbigene:2256 semapv:UnspecifiedMatching -OMIM:601515 FGF14 skos:exactMatch hgnc:FGF14 semapv:UnspecifiedMatching +OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:3671 semapv:UnspecifiedMatching +OMIM:601515 FGF14 skos:exactMatch hgnc.symbol:FGF14 semapv:UnspecifiedMatching OMIM:601515 FGF14 skos:exactMatch ncbigene:2259 semapv:UnspecifiedMatching -OMIM:601516 SF1 skos:exactMatch hgnc:SF1 semapv:UnspecifiedMatching +OMIM:601516 SF1 skos:exactMatch hgnc.symbol:12950 semapv:UnspecifiedMatching +OMIM:601516 SF1 skos:exactMatch hgnc.symbol:SF1 semapv:UnspecifiedMatching OMIM:601516 SF1 skos:exactMatch ncbigene:7536 semapv:UnspecifiedMatching -OMIM:601517 ATXN2 skos:exactMatch hgnc:ATXN2 semapv:UnspecifiedMatching +OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:10555 semapv:UnspecifiedMatching +OMIM:601517 ATXN2 skos:exactMatch hgnc.symbol:ATXN2 semapv:UnspecifiedMatching OMIM:601517 ATXN2 skos:exactMatch ncbigene:6311 semapv:UnspecifiedMatching OMIM:601519 ATP5ME skos:exactMatch UMLS:C1412667 semapv:UnspecifiedMatching -OMIM:601519 ATP5ME skos:exactMatch hgnc:ATP5ME semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:846 semapv:UnspecifiedMatching +OMIM:601519 ATP5ME skos:exactMatch hgnc.symbol:ATP5ME semapv:UnspecifiedMatching OMIM:601519 ATP5ME skos:exactMatch ncbigene:521 semapv:UnspecifiedMatching -OMIM:601520 CCL17 skos:exactMatch hgnc:CCL17 semapv:UnspecifiedMatching +OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:10615 semapv:UnspecifiedMatching +OMIM:601520 CCL17 skos:exactMatch hgnc.symbol:CCL17 semapv:UnspecifiedMatching OMIM:601520 CCL17 skos:exactMatch ncbigene:6361 semapv:UnspecifiedMatching -OMIM:601521 ESM1 skos:exactMatch hgnc:ESM1 semapv:UnspecifiedMatching +OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:3466 semapv:UnspecifiedMatching +OMIM:601521 ESM1 skos:exactMatch hgnc.symbol:ESM1 semapv:UnspecifiedMatching OMIM:601521 ESM1 skos:exactMatch ncbigene:11082 semapv:UnspecifiedMatching -OMIM:601522 GRB7 skos:exactMatch hgnc:GRB7 semapv:UnspecifiedMatching +OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:4567 semapv:UnspecifiedMatching +OMIM:601522 GRB7 skos:exactMatch hgnc.symbol:GRB7 semapv:UnspecifiedMatching OMIM:601522 GRB7 skos:exactMatch ncbigene:2886 semapv:UnspecifiedMatching OMIM:601523 GRB10 skos:exactMatch UMLS:C1366512 semapv:UnspecifiedMatching -OMIM:601523 GRB10 skos:exactMatch hgnc:GRB10 semapv:UnspecifiedMatching +OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:4564 semapv:UnspecifiedMatching +OMIM:601523 GRB10 skos:exactMatch hgnc.symbol:GRB10 semapv:UnspecifiedMatching OMIM:601523 GRB10 skos:exactMatch ncbigene:2887 semapv:UnspecifiedMatching -OMIM:601524 GRB14 skos:exactMatch hgnc:GRB14 semapv:UnspecifiedMatching +OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:4565 semapv:UnspecifiedMatching +OMIM:601524 GRB14 skos:exactMatch hgnc.symbol:GRB14 semapv:UnspecifiedMatching OMIM:601524 GRB14 skos:exactMatch ncbigene:2888 semapv:UnspecifiedMatching -OMIM:601525 CHI3L1 skos:exactMatch hgnc:CHI3L1 semapv:UnspecifiedMatching +OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:1932 semapv:UnspecifiedMatching +OMIM:601525 CHI3L1 skos:exactMatch hgnc.symbol:CHI3L1 semapv:UnspecifiedMatching OMIM:601525 CHI3L1 skos:exactMatch ncbigene:1116 semapv:UnspecifiedMatching -OMIM:601526 CHI3L2 skos:exactMatch hgnc:CHI3L2 semapv:UnspecifiedMatching +OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:1933 semapv:UnspecifiedMatching +OMIM:601526 CHI3L2 skos:exactMatch hgnc.symbol:CHI3L2 semapv:UnspecifiedMatching OMIM:601526 CHI3L2 skos:exactMatch ncbigene:1117 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch UMLS:C1413127 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching -OMIM:601527 ALX1 skos:exactMatch hgnc:ALX1 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:1494 semapv:UnspecifiedMatching +OMIM:601527 ALX1 skos:exactMatch hgnc.symbol:ALX1 semapv:UnspecifiedMatching OMIM:601527 ALX1 skos:exactMatch ncbigene:8092 semapv:UnspecifiedMatching OMIM:601528 VEGFC skos:exactMatch UMLS:C1336933 semapv:UnspecifiedMatching OMIM:601528 VEGFC skos:exactMatch UMLS:C4747769 semapv:UnspecifiedMatching -OMIM:601528 VEGFC skos:exactMatch hgnc:VEGFC semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:12682 semapv:UnspecifiedMatching +OMIM:601528 VEGFC skos:exactMatch hgnc.symbol:VEGFC semapv:UnspecifiedMatching OMIM:601528 VEGFC skos:exactMatch ncbigene:7424 semapv:UnspecifiedMatching -OMIM:601529 NR2C1 skos:exactMatch hgnc:NR2C1 semapv:UnspecifiedMatching +OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:7971 semapv:UnspecifiedMatching +OMIM:601529 NR2C1 skos:exactMatch hgnc.symbol:NR2C1 semapv:UnspecifiedMatching OMIM:601529 NR2C1 skos:exactMatch ncbigene:7181 semapv:UnspecifiedMatching -OMIM:601530 SQSTM1 skos:exactMatch hgnc:SQSTM1 semapv:UnspecifiedMatching +OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:11280 semapv:UnspecifiedMatching +OMIM:601530 SQSTM1 skos:exactMatch hgnc.symbol:SQSTM1 semapv:UnspecifiedMatching OMIM:601530 SQSTM1 skos:exactMatch ncbigene:8878 semapv:UnspecifiedMatching -OMIM:601531 LTB4R skos:exactMatch hgnc:LTB4R semapv:UnspecifiedMatching +OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:6713 semapv:UnspecifiedMatching +OMIM:601531 LTB4R skos:exactMatch hgnc.symbol:LTB4R semapv:UnspecifiedMatching OMIM:601531 LTB4R skos:exactMatch ncbigene:1241 semapv:UnspecifiedMatching OMIM:601532 CASP6 skos:exactMatch UMLS:C1332665 semapv:UnspecifiedMatching -OMIM:601532 CASP6 skos:exactMatch hgnc:CASP6 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:1507 semapv:UnspecifiedMatching +OMIM:601532 CASP6 skos:exactMatch hgnc.symbol:CASP6 semapv:UnspecifiedMatching OMIM:601532 CASP6 skos:exactMatch ncbigene:839 semapv:UnspecifiedMatching -OMIM:601533 ADAM2 skos:exactMatch hgnc:ADAM2 semapv:UnspecifiedMatching +OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:198 semapv:UnspecifiedMatching +OMIM:601533 ADAM2 skos:exactMatch hgnc.symbol:ADAM2 semapv:UnspecifiedMatching OMIM:601533 ADAM2 skos:exactMatch ncbigene:2515 semapv:UnspecifiedMatching -OMIM:601534 KCNJ3 skos:exactMatch hgnc:KCNJ3 semapv:UnspecifiedMatching +OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:6264 semapv:UnspecifiedMatching +OMIM:601534 KCNJ3 skos:exactMatch hgnc.symbol:KCNJ3 semapv:UnspecifiedMatching OMIM:601534 KCNJ3 skos:exactMatch ncbigene:3760 semapv:UnspecifiedMatching -OMIM:601535 EFNA5 skos:exactMatch hgnc:EFNA5 semapv:UnspecifiedMatching +OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:3225 semapv:UnspecifiedMatching +OMIM:601535 EFNA5 skos:exactMatch hgnc.symbol:EFNA5 semapv:UnspecifiedMatching OMIM:601535 EFNA5 skos:exactMatch ncbigene:1946 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69737 semapv:UnspecifiedMatching +OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch Orphanet:69739 semapv:UnspecifiedMatching OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832215 semapv:UnspecifiedMatching OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch UMLS:C1832216 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch orphanet.ordo:69737 semapv:UnspecifiedMatching -OMIM:601536 athabaskan brainstem dysgenesis syndrome skos:exactMatch orphanet.ordo:69739 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch UMLS:C0878683 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch UMLS:C1418947 semapv:UnspecifiedMatching -OMIM:601538 PROP1 skos:exactMatch hgnc:PROP1 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:9455 semapv:UnspecifiedMatching +OMIM:601538 PROP1 skos:exactMatch hgnc.symbol:PROP1 semapv:UnspecifiedMatching OMIM:601538 PROP1 skos:exactMatch ncbigene:5626 semapv:UnspecifiedMatching -OMIM:601540 BRD2 skos:exactMatch hgnc:BRD2 semapv:UnspecifiedMatching +OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:1103 semapv:UnspecifiedMatching +OMIM:601540 BRD2 skos:exactMatch hgnc.symbol:BRD2 semapv:UnspecifiedMatching OMIM:601540 BRD2 skos:exactMatch ncbigene:6046 semapv:UnspecifiedMatching -OMIM:601541 BRD3 skos:exactMatch hgnc:BRD3 semapv:UnspecifiedMatching +OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:1104 semapv:UnspecifiedMatching +OMIM:601541 BRD3 skos:exactMatch hgnc.symbol:BRD3 semapv:UnspecifiedMatching OMIM:601541 BRD3 skos:exactMatch ncbigene:8019 semapv:UnspecifiedMatching -OMIM:601542 PITX2 skos:exactMatch hgnc:PITX2 semapv:UnspecifiedMatching +OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:9005 semapv:UnspecifiedMatching +OMIM:601542 PITX2 skos:exactMatch hgnc.symbol:PITX2 semapv:UnspecifiedMatching OMIM:601542 PITX2 skos:exactMatch ncbigene:5308 semapv:UnspecifiedMatching +OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch UMLS:C1832187 semapv:UnspecifiedMatching -OMIM:601543 deafness, autosomal dominant 12 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching +OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch UMLS:C2675750 semapv:UnspecifiedMatching -OMIM:601544 deafness, autosomal dominant 3a skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching -OMIM:601545 PAFAH1B1 skos:exactMatch hgnc:PAFAH1B1 semapv:UnspecifiedMatching +OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:8574 semapv:UnspecifiedMatching +OMIM:601545 PAFAH1B1 skos:exactMatch hgnc.symbol:PAFAH1B1 semapv:UnspecifiedMatching OMIM:601545 PAFAH1B1 skos:exactMatch ncbigene:5048 semapv:UnspecifiedMatching -OMIM:601546 PROX1 skos:exactMatch hgnc:PROX1 semapv:UnspecifiedMatching +OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:9459 semapv:UnspecifiedMatching +OMIM:601546 PROX1 skos:exactMatch hgnc.symbol:PROX1 semapv:UnspecifiedMatching OMIM:601546 PROX1 skos:exactMatch ncbigene:5629 semapv:UnspecifiedMatching -OMIM:601548 EFEMP1 skos:exactMatch hgnc:EFEMP1 semapv:UnspecifiedMatching +OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:3218 semapv:UnspecifiedMatching +OMIM:601548 EFEMP1 skos:exactMatch hgnc.symbol:EFEMP1 semapv:UnspecifiedMatching OMIM:601548 EFEMP1 skos:exactMatch ncbigene:2202 semapv:UnspecifiedMatching -OMIM:601554 DYNLT1 skos:exactMatch hgnc:DYNLT1 semapv:UnspecifiedMatching +OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:11697 semapv:UnspecifiedMatching +OMIM:601554 DYNLT1 skos:exactMatch hgnc.symbol:DYNLT1 semapv:UnspecifiedMatching OMIM:601554 DYNLT1 skos:exactMatch ncbigene:6993 semapv:UnspecifiedMatching -OMIM:601555 RND2 skos:exactMatch hgnc:RND2 semapv:UnspecifiedMatching +OMIM:601555 RND2 skos:exactMatch hgnc.symbol:18315 semapv:UnspecifiedMatching +OMIM:601555 RND2 skos:exactMatch hgnc.symbol:RND2 semapv:UnspecifiedMatching OMIM:601555 RND2 skos:exactMatch ncbigene:8153 semapv:UnspecifiedMatching -OMIM:601556 ATXN1 skos:exactMatch hgnc:ATXN1 semapv:UnspecifiedMatching +OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:10548 semapv:UnspecifiedMatching +OMIM:601556 ATXN1 skos:exactMatch hgnc.symbol:ATXN1 semapv:UnspecifiedMatching OMIM:601556 ATXN1 skos:exactMatch ncbigene:6310 semapv:UnspecifiedMatching -OMIM:601557 ACACB skos:exactMatch hgnc:ACACB semapv:UnspecifiedMatching +OMIM:601557 ACACB skos:exactMatch hgnc.symbol:85 semapv:UnspecifiedMatching +OMIM:601557 ACACB skos:exactMatch hgnc.symbol:ACACB semapv:UnspecifiedMatching OMIM:601557 ACACB skos:exactMatch ncbigene:32 semapv:UnspecifiedMatching OMIM:601558 RBPMS skos:exactMatch UMLS:C1426009 semapv:UnspecifiedMatching -OMIM:601558 RBPMS skos:exactMatch hgnc:RBPMS semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:19097 semapv:UnspecifiedMatching +OMIM:601558 RBPMS skos:exactMatch hgnc.symbol:RBPMS semapv:UnspecifiedMatching OMIM:601558 RBPMS skos:exactMatch ncbigene:11030 semapv:UnspecifiedMatching -OMIM:601562 DYNLL1 skos:exactMatch hgnc:DYNLL1 semapv:UnspecifiedMatching +OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:15476 semapv:UnspecifiedMatching +OMIM:601562 DYNLL1 skos:exactMatch hgnc.symbol:DYNLL1 semapv:UnspecifiedMatching OMIM:601562 DYNLL1 skos:exactMatch ncbigene:8655 semapv:UnspecifiedMatching -OMIM:601564 PRSS2 skos:exactMatch hgnc:PRSS2 semapv:UnspecifiedMatching +OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:9483 semapv:UnspecifiedMatching +OMIM:601564 PRSS2 skos:exactMatch hgnc.symbol:PRSS2 semapv:UnspecifiedMatching OMIM:601564 PRSS2 skos:exactMatch ncbigene:5645 semapv:UnspecifiedMatching -OMIM:601565 IRF8 skos:exactMatch hgnc:IRF8 semapv:UnspecifiedMatching +OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:5358 semapv:UnspecifiedMatching +OMIM:601565 IRF8 skos:exactMatch hgnc.symbol:IRF8 semapv:UnspecifiedMatching OMIM:601565 IRF8 skos:exactMatch ncbigene:3394 semapv:UnspecifiedMatching -OMIM:601566 ING1 skos:exactMatch hgnc:ING1 semapv:UnspecifiedMatching +OMIM:601566 ING1 skos:exactMatch hgnc.symbol:6062 semapv:UnspecifiedMatching +OMIM:601566 ING1 skos:exactMatch hgnc.symbol:ING1 semapv:UnspecifiedMatching OMIM:601566 ING1 skos:exactMatch ncbigene:3621 semapv:UnspecifiedMatching -OMIM:601567 LMAN1 skos:exactMatch hgnc:LMAN1 semapv:UnspecifiedMatching +OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:6631 semapv:UnspecifiedMatching +OMIM:601567 LMAN1 skos:exactMatch hgnc.symbol:LMAN1 semapv:UnspecifiedMatching OMIM:601567 LMAN1 skos:exactMatch ncbigene:3998 semapv:UnspecifiedMatching -OMIM:601568 ADD3 skos:exactMatch hgnc:ADD3 semapv:UnspecifiedMatching +OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:245 semapv:UnspecifiedMatching +OMIM:601568 ADD3 skos:exactMatch hgnc.symbol:ADD3 semapv:UnspecifiedMatching OMIM:601568 ADD3 skos:exactMatch ncbigene:120 semapv:UnspecifiedMatching -OMIM:601569 UBE2G1 skos:exactMatch hgnc:UBE2G1 semapv:UnspecifiedMatching +OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:12482 semapv:UnspecifiedMatching +OMIM:601569 UBE2G1 skos:exactMatch hgnc.symbol:UBE2G1 semapv:UnspecifiedMatching OMIM:601569 UBE2G1 skos:exactMatch ncbigene:7326 semapv:UnspecifiedMatching -OMIM:601570 WNT7A skos:exactMatch hgnc:WNT7A semapv:UnspecifiedMatching +OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:12786 semapv:UnspecifiedMatching +OMIM:601570 WNT7A skos:exactMatch hgnc.symbol:WNT7A semapv:UnspecifiedMatching OMIM:601570 WNT7A skos:exactMatch ncbigene:7476 semapv:UnspecifiedMatching -OMIM:601571 CAPZA2 skos:exactMatch hgnc:CAPZA2 semapv:UnspecifiedMatching +OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:1490 semapv:UnspecifiedMatching +OMIM:601571 CAPZA2 skos:exactMatch hgnc.symbol:CAPZA2 semapv:UnspecifiedMatching OMIM:601571 CAPZA2 skos:exactMatch ncbigene:830 semapv:UnspecifiedMatching -OMIM:601572 CAPZB skos:exactMatch hgnc:CAPZB semapv:UnspecifiedMatching +OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:1491 semapv:UnspecifiedMatching +OMIM:601572 CAPZB skos:exactMatch hgnc.symbol:CAPZB semapv:UnspecifiedMatching OMIM:601572 CAPZB skos:exactMatch ncbigene:832 semapv:UnspecifiedMatching -OMIM:601573 EZH2 skos:exactMatch hgnc:EZH2 semapv:UnspecifiedMatching +OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:3527 semapv:UnspecifiedMatching +OMIM:601573 EZH2 skos:exactMatch hgnc.symbol:EZH2 semapv:UnspecifiedMatching OMIM:601573 EZH2 skos:exactMatch ncbigene:2146 semapv:UnspecifiedMatching -OMIM:601574 TAF15 skos:exactMatch hgnc:TAF15 semapv:UnspecifiedMatching +OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:11547 semapv:UnspecifiedMatching +OMIM:601574 TAF15 skos:exactMatch hgnc.symbol:TAF15 semapv:UnspecifiedMatching OMIM:601574 TAF15 skos:exactMatch ncbigene:8148 semapv:UnspecifiedMatching -OMIM:601575 FOSL2 skos:exactMatch hgnc:FOSL2 semapv:UnspecifiedMatching +OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:3798 semapv:UnspecifiedMatching +OMIM:601575 FOSL2 skos:exactMatch hgnc.symbol:FOSL2 semapv:UnspecifiedMatching OMIM:601575 FOSL2 skos:exactMatch ncbigene:2355 semapv:UnspecifiedMatching -OMIM:601576 PTPRS skos:exactMatch hgnc:PTPRS semapv:UnspecifiedMatching +OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:9681 semapv:UnspecifiedMatching +OMIM:601576 PTPRS skos:exactMatch hgnc.symbol:PTPRS semapv:UnspecifiedMatching OMIM:601576 PTPRS skos:exactMatch ncbigene:5802 semapv:UnspecifiedMatching -OMIM:601577 PTPRCAP skos:exactMatch hgnc:PTPRCAP semapv:UnspecifiedMatching +OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:9667 semapv:UnspecifiedMatching +OMIM:601577 PTPRCAP skos:exactMatch hgnc.symbol:PTPRCAP semapv:UnspecifiedMatching OMIM:601577 PTPRCAP skos:exactMatch ncbigene:5790 semapv:UnspecifiedMatching -OMIM:601578 CCNG1 skos:exactMatch hgnc:CCNG1 semapv:UnspecifiedMatching +OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:1592 semapv:UnspecifiedMatching +OMIM:601578 CCNG1 skos:exactMatch hgnc.symbol:CCNG1 semapv:UnspecifiedMatching OMIM:601578 CCNG1 skos:exactMatch ncbigene:900 semapv:UnspecifiedMatching -OMIM:601579 OAZ1 skos:exactMatch hgnc:OAZ1 semapv:UnspecifiedMatching +OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:8095 semapv:UnspecifiedMatching +OMIM:601579 OAZ1 skos:exactMatch hgnc.symbol:OAZ1 semapv:UnspecifiedMatching OMIM:601579 OAZ1 skos:exactMatch ncbigene:4946 semapv:UnspecifiedMatching -OMIM:601580 CAPZA1 skos:exactMatch hgnc:CAPZA1 semapv:UnspecifiedMatching +OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:1488 semapv:UnspecifiedMatching +OMIM:601580 CAPZA1 skos:exactMatch hgnc.symbol:CAPZA1 semapv:UnspecifiedMatching OMIM:601580 CAPZA1 skos:exactMatch ncbigene:829 semapv:UnspecifiedMatching -OMIM:601581 NRCAM skos:exactMatch hgnc:NRCAM semapv:UnspecifiedMatching +OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:7994 semapv:UnspecifiedMatching +OMIM:601581 NRCAM skos:exactMatch hgnc.symbol:NRCAM semapv:UnspecifiedMatching OMIM:601581 NRCAM skos:exactMatch ncbigene:4897 semapv:UnspecifiedMatching -OMIM:601582 INPP5D skos:exactMatch hgnc:INPP5D semapv:UnspecifiedMatching +OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:6079 semapv:UnspecifiedMatching +OMIM:601582 INPP5D skos:exactMatch hgnc.symbol:INPP5D semapv:UnspecifiedMatching OMIM:601582 INPP5D skos:exactMatch ncbigene:3635 semapv:UnspecifiedMatching +OMIM:601583 wilms tumor 5 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching OMIM:601583 wilms tumor 5 skos:exactMatch UMLS:C1832099 semapv:UnspecifiedMatching -OMIM:601583 wilms tumor 5 skos:exactMatch orphanet.ordo:654 semapv:UnspecifiedMatching -OMIM:601584 PTP4A2 skos:exactMatch hgnc:PTP4A2 semapv:UnspecifiedMatching +OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:9635 semapv:UnspecifiedMatching +OMIM:601584 PTP4A2 skos:exactMatch hgnc.symbol:PTP4A2 semapv:UnspecifiedMatching OMIM:601584 PTP4A2 skos:exactMatch ncbigene:8073 semapv:UnspecifiedMatching -OMIM:601585 PTP4A1 skos:exactMatch hgnc:PTP4A1 semapv:UnspecifiedMatching +OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:9634 semapv:UnspecifiedMatching +OMIM:601585 PTP4A1 skos:exactMatch hgnc.symbol:PTP4A1 semapv:UnspecifiedMatching OMIM:601585 PTP4A1 skos:exactMatch ncbigene:7803 semapv:UnspecifiedMatching -OMIM:601586 PTGER4 skos:exactMatch hgnc:PTGER4 semapv:UnspecifiedMatching +OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:9596 semapv:UnspecifiedMatching +OMIM:601586 PTGER4 skos:exactMatch hgnc.symbol:PTGER4 semapv:UnspecifiedMatching OMIM:601586 PTGER4 skos:exactMatch ncbigene:5734 semapv:UnspecifiedMatching -OMIM:601589 RASA2 skos:exactMatch hgnc:RASA2 semapv:UnspecifiedMatching +OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:9872 semapv:UnspecifiedMatching +OMIM:601589 RASA2 skos:exactMatch hgnc.symbol:RASA2 semapv:UnspecifiedMatching OMIM:601589 RASA2 skos:exactMatch ncbigene:5922 semapv:UnspecifiedMatching -OMIM:601590 EVPL skos:exactMatch hgnc:EVPL semapv:UnspecifiedMatching +OMIM:601590 EVPL skos:exactMatch hgnc.symbol:3503 semapv:UnspecifiedMatching +OMIM:601590 EVPL skos:exactMatch hgnc.symbol:EVPL semapv:UnspecifiedMatching OMIM:601590 EVPL skos:exactMatch ncbigene:2125 semapv:UnspecifiedMatching -OMIM:601591 PRKG2 skos:exactMatch hgnc:PRKG2 semapv:UnspecifiedMatching +OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:9416 semapv:UnspecifiedMatching +OMIM:601591 PRKG2 skos:exactMatch hgnc.symbol:PRKG2 semapv:UnspecifiedMatching OMIM:601591 PRKG2 skos:exactMatch ncbigene:5593 semapv:UnspecifiedMatching -OMIM:601592 RAPSN skos:exactMatch hgnc:RAPSN semapv:UnspecifiedMatching +OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:9863 semapv:UnspecifiedMatching +OMIM:601592 RAPSN skos:exactMatch hgnc.symbol:RAPSN semapv:UnspecifiedMatching OMIM:601592 RAPSN skos:exactMatch ncbigene:5913 semapv:UnspecifiedMatching OMIM:601593 BARD1 skos:exactMatch UMLS:C1332381 semapv:UnspecifiedMatching OMIM:601593 BARD1 skos:exactMatch UMLS:C3469522 semapv:UnspecifiedMatching -OMIM:601593 BARD1 skos:exactMatch hgnc:BARD1 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:952 semapv:UnspecifiedMatching +OMIM:601593 BARD1 skos:exactMatch hgnc.symbol:BARD1 semapv:UnspecifiedMatching OMIM:601593 BARD1 skos:exactMatch ncbigene:580 semapv:UnspecifiedMatching -OMIM:601594 JARID2 skos:exactMatch hgnc:JARID2 semapv:UnspecifiedMatching +OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:6196 semapv:UnspecifiedMatching +OMIM:601594 JARID2 skos:exactMatch hgnc.symbol:JARID2 semapv:UnspecifiedMatching OMIM:601594 JARID2 skos:exactMatch ncbigene:3720 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch UMLS:C1416962 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601595 SMAD1 skos:exactMatch hgnc:SMAD1 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:6767 semapv:UnspecifiedMatching +OMIM:601595 SMAD1 skos:exactMatch hgnc.symbol:SMAD1 semapv:UnspecifiedMatching OMIM:601595 SMAD1 skos:exactMatch ncbigene:4086 semapv:UnspecifiedMatching +OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch Orphanet:99949 semapv:UnspecifiedMatching OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching -OMIM:601596 charcot-marie-tooth disease, iia 4c skos:exactMatch orphanet.ordo:99949 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch UMLS:C1366526 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601597 BTG2 skos:exactMatch hgnc:BTG2 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:1131 semapv:UnspecifiedMatching +OMIM:601597 BTG2 skos:exactMatch hgnc.symbol:BTG2 semapv:UnspecifiedMatching OMIM:601597 BTG2 skos:exactMatch ncbigene:7832 semapv:UnspecifiedMatching -OMIM:601598 PTPRD skos:exactMatch hgnc:PTPRD semapv:UnspecifiedMatching +OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:9668 semapv:UnspecifiedMatching +OMIM:601598 PTPRD skos:exactMatch hgnc.symbol:PTPRD semapv:UnspecifiedMatching OMIM:601598 PTPRD skos:exactMatch ncbigene:5789 semapv:UnspecifiedMatching -OMIM:601599 SSPN skos:exactMatch hgnc:SSPN semapv:UnspecifiedMatching +OMIM:601599 SSPN skos:exactMatch hgnc.symbol:11322 semapv:UnspecifiedMatching +OMIM:601599 SSPN skos:exactMatch hgnc.symbol:SSPN semapv:UnspecifiedMatching OMIM:601599 SSPN skos:exactMatch ncbigene:8082 semapv:UnspecifiedMatching -OMIM:601600 ETV5 skos:exactMatch hgnc:ETV5 semapv:UnspecifiedMatching +OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:3494 semapv:UnspecifiedMatching +OMIM:601600 ETV5 skos:exactMatch hgnc.symbol:ETV5 semapv:UnspecifiedMatching OMIM:601600 ETV5 skos:exactMatch ncbigene:2119 semapv:UnspecifiedMatching -OMIM:601601 TFAP2B skos:exactMatch hgnc:TFAP2B semapv:UnspecifiedMatching +OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:11743 semapv:UnspecifiedMatching +OMIM:601601 TFAP2B skos:exactMatch hgnc.symbol:TFAP2B semapv:UnspecifiedMatching OMIM:601601 TFAP2B skos:exactMatch ncbigene:7021 semapv:UnspecifiedMatching -OMIM:601602 TFAP2C skos:exactMatch hgnc:TFAP2C semapv:UnspecifiedMatching +OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:11744 semapv:UnspecifiedMatching +OMIM:601602 TFAP2C skos:exactMatch hgnc.symbol:TFAP2C semapv:UnspecifiedMatching OMIM:601602 TFAP2C skos:exactMatch ncbigene:7022 semapv:UnspecifiedMatching -OMIM:601603 LCP2 skos:exactMatch hgnc:LCP2 semapv:UnspecifiedMatching +OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:6529 semapv:UnspecifiedMatching +OMIM:601603 LCP2 skos:exactMatch hgnc.symbol:LCP2 semapv:UnspecifiedMatching OMIM:601603 LCP2 skos:exactMatch ncbigene:3937 semapv:UnspecifiedMatching -OMIM:601604 IL12RB1 skos:exactMatch hgnc:IL12RB1 semapv:UnspecifiedMatching +OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:5971 semapv:UnspecifiedMatching +OMIM:601604 IL12RB1 skos:exactMatch hgnc.symbol:IL12RB1 semapv:UnspecifiedMatching OMIM:601604 IL12RB1 skos:exactMatch ncbigene:3594 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch UMLS:C0812273 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching @@ -12248,176 +16515,238 @@ OMIM:601607 SMARCB1 skos:exactMatch UMLS:C2750405 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch UMLS:C3553248 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4016745 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch UMLS:C4048809 semapv:UnspecifiedMatching -OMIM:601607 SMARCB1 skos:exactMatch hgnc:SMARCB1 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:11103 semapv:UnspecifiedMatching +OMIM:601607 SMARCB1 skos:exactMatch hgnc.symbol:SMARCB1 semapv:UnspecifiedMatching OMIM:601607 SMARCB1 skos:exactMatch ncbigene:6598 semapv:UnspecifiedMatching -OMIM:601609 HADH skos:exactMatch hgnc:HADH semapv:UnspecifiedMatching +OMIM:601609 HADH skos:exactMatch hgnc.symbol:4799 semapv:UnspecifiedMatching +OMIM:601609 HADH skos:exactMatch hgnc.symbol:HADH semapv:UnspecifiedMatching OMIM:601609 HADH skos:exactMatch ncbigene:3033 semapv:UnspecifiedMatching -OMIM:601610 BTN1A1 skos:exactMatch hgnc:BTN1A1 semapv:UnspecifiedMatching +OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:1135 semapv:UnspecifiedMatching +OMIM:601610 BTN1A1 skos:exactMatch hgnc.symbol:BTN1A1 semapv:UnspecifiedMatching OMIM:601610 BTN1A1 skos:exactMatch ncbigene:696 semapv:UnspecifiedMatching -OMIM:601611 SLC14A2 skos:exactMatch hgnc:SLC14A2 semapv:UnspecifiedMatching +OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:10919 semapv:UnspecifiedMatching +OMIM:601611 SLC14A2 skos:exactMatch hgnc.symbol:SLC14A2 semapv:UnspecifiedMatching OMIM:601611 SLC14A2 skos:exactMatch ncbigene:8170 semapv:UnspecifiedMatching -OMIM:601613 CXCR5 skos:exactMatch hgnc:CXCR5 semapv:UnspecifiedMatching +OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:1060 semapv:UnspecifiedMatching +OMIM:601613 CXCR5 skos:exactMatch hgnc.symbol:CXCR5 semapv:UnspecifiedMatching OMIM:601613 CXCR5 skos:exactMatch ncbigene:643 semapv:UnspecifiedMatching -OMIM:601614 NTN1 skos:exactMatch hgnc:NTN1 semapv:UnspecifiedMatching +OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:8029 semapv:UnspecifiedMatching +OMIM:601614 NTN1 skos:exactMatch hgnc.symbol:NTN1 semapv:UnspecifiedMatching OMIM:601614 NTN1 skos:exactMatch ncbigene:9423 semapv:UnspecifiedMatching -OMIM:601615 ABCA3 skos:exactMatch hgnc:ABCA3 semapv:UnspecifiedMatching +OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:33 semapv:UnspecifiedMatching +OMIM:601615 ABCA3 skos:exactMatch hgnc.symbol:ABCA3 semapv:UnspecifiedMatching OMIM:601615 ABCA3 skos:exactMatch ncbigene:21 semapv:UnspecifiedMatching -OMIM:601617 RDH5 skos:exactMatch hgnc:RDH5 semapv:UnspecifiedMatching +OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:9940 semapv:UnspecifiedMatching +OMIM:601617 RDH5 skos:exactMatch hgnc.symbol:RDH5 semapv:UnspecifiedMatching OMIM:601617 RDH5 skos:exactMatch ncbigene:5959 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch UMLS:C1420321 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch UMLS:C1843004 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching -OMIM:601618 SOX18 skos:exactMatch hgnc:SOX18 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:11194 semapv:UnspecifiedMatching +OMIM:601618 SOX18 skos:exactMatch hgnc.symbol:SOX18 semapv:UnspecifiedMatching OMIM:601618 SOX18 skos:exactMatch ncbigene:54345 semapv:UnspecifiedMatching -OMIM:601619 RALGDS skos:exactMatch hgnc:RALGDS semapv:UnspecifiedMatching +OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:9842 semapv:UnspecifiedMatching +OMIM:601619 RALGDS skos:exactMatch hgnc.symbol:RALGDS semapv:UnspecifiedMatching OMIM:601619 RALGDS skos:exactMatch ncbigene:5900 semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch UMLS:C0265264 semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch UMLS:C1420615 semapv:UnspecifiedMatching -OMIM:601620 TBX5 skos:exactMatch hgnc:TBX5 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:11604 semapv:UnspecifiedMatching +OMIM:601620 TBX5 skos:exactMatch hgnc.symbol:TBX5 semapv:UnspecifiedMatching OMIM:601620 TBX5 skos:exactMatch ncbigene:6910 semapv:UnspecifiedMatching OMIM:601621 TBX3 skos:exactMatch UMLS:C1420613 semapv:UnspecifiedMatching OMIM:601621 TBX3 skos:exactMatch UMLS:C1866994 semapv:UnspecifiedMatching -OMIM:601621 TBX3 skos:exactMatch hgnc:TBX3 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:11602 semapv:UnspecifiedMatching +OMIM:601621 TBX3 skos:exactMatch hgnc.symbol:TBX3 semapv:UnspecifiedMatching OMIM:601621 TBX3 skos:exactMatch ncbigene:6926 semapv:UnspecifiedMatching -OMIM:601622 TWIST1 skos:exactMatch hgnc:TWIST1 semapv:UnspecifiedMatching +OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:12428 semapv:UnspecifiedMatching +OMIM:601622 TWIST1 skos:exactMatch hgnc.symbol:TWIST1 semapv:UnspecifiedMatching OMIM:601622 TWIST1 skos:exactMatch ncbigene:7291 semapv:UnspecifiedMatching OMIM:601623 UBE3A skos:exactMatch UMLS:C0162635 semapv:UnspecifiedMatching OMIM:601623 UBE3A skos:exactMatch UMLS:C1421293 semapv:UnspecifiedMatching -OMIM:601623 UBE3A skos:exactMatch hgnc:UBE3A semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:12496 semapv:UnspecifiedMatching +OMIM:601623 UBE3A skos:exactMatch hgnc.symbol:UBE3A semapv:UnspecifiedMatching OMIM:601623 UBE3A skos:exactMatch ncbigene:7337 semapv:UnspecifiedMatching -OMIM:601624 FCN2 skos:exactMatch hgnc:FCN2 semapv:UnspecifiedMatching +OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:3624 semapv:UnspecifiedMatching +OMIM:601624 FCN2 skos:exactMatch hgnc.symbol:FCN2 semapv:UnspecifiedMatching OMIM:601624 FCN2 skos:exactMatch ncbigene:2220 semapv:UnspecifiedMatching -OMIM:601625 ART1 skos:exactMatch hgnc:ART1 semapv:UnspecifiedMatching +OMIM:601625 ART1 skos:exactMatch hgnc.symbol:723 semapv:UnspecifiedMatching +OMIM:601625 ART1 skos:exactMatch hgnc.symbol:ART1 semapv:UnspecifiedMatching OMIM:601625 ART1 skos:exactMatch ncbigene:417 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:167714 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319465 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:319480 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:519 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:530995 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86845 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86846 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:86851 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98277 semapv:UnspecifiedMatching +OMIM:601626 leukemia, acute myeloid skos:exactMatch Orphanet:98835 semapv:UnspecifiedMatching OMIM:601626 leukemia, acute myeloid skos:exactMatch UMLS:C0023467 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:167714 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:319465 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:319480 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:519 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:530995 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:86845 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:86846 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:86851 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:98277 semapv:UnspecifiedMatching -OMIM:601626 leukemia, acute myeloid skos:exactMatch orphanet.ordo:98835 semapv:UnspecifiedMatching -OMIM:601627 SMN2 skos:exactMatch hgnc:SMN2 semapv:UnspecifiedMatching +OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:11118 semapv:UnspecifiedMatching +OMIM:601627 SMN2 skos:exactMatch hgnc.symbol:SMN2 semapv:UnspecifiedMatching OMIM:601627 SMN2 skos:exactMatch ncbigene:6607 semapv:UnspecifiedMatching -OMIM:601629 PCP4 skos:exactMatch hgnc:PCP4 semapv:UnspecifiedMatching +OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:8742 semapv:UnspecifiedMatching +OMIM:601629 PCP4 skos:exactMatch hgnc.symbol:PCP4 semapv:UnspecifiedMatching OMIM:601629 PCP4 skos:exactMatch ncbigene:5121 semapv:UnspecifiedMatching OMIM:601632 POU4F1 skos:exactMatch UMLS:C1418765 semapv:UnspecifiedMatching -OMIM:601632 POU4F1 skos:exactMatch hgnc:POU4F1 semapv:UnspecifiedMatching +OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:9218 semapv:UnspecifiedMatching +OMIM:601632 POU4F1 skos:exactMatch hgnc.symbol:POU4F1 semapv:UnspecifiedMatching OMIM:601632 POU4F1 skos:exactMatch ncbigene:5457 semapv:UnspecifiedMatching -OMIM:601633 NSF skos:exactMatch hgnc:NSF semapv:UnspecifiedMatching +OMIM:601633 NSF skos:exactMatch hgnc.symbol:8016 semapv:UnspecifiedMatching +OMIM:601633 NSF skos:exactMatch hgnc.symbol:NSF semapv:UnspecifiedMatching OMIM:601633 NSF skos:exactMatch ncbigene:4905 semapv:UnspecifiedMatching -OMIM:601636 HAS2 skos:exactMatch hgnc:HAS2 semapv:UnspecifiedMatching +OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:4819 semapv:UnspecifiedMatching +OMIM:601636 HAS2 skos:exactMatch hgnc.symbol:HAS2 semapv:UnspecifiedMatching OMIM:601636 HAS2 skos:exactMatch ncbigene:3037 semapv:UnspecifiedMatching OMIM:601637 CYP51A1 skos:exactMatch UMLS:C1413892 semapv:UnspecifiedMatching -OMIM:601637 CYP51A1 skos:exactMatch hgnc:CYP51A1 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:2649 semapv:UnspecifiedMatching +OMIM:601637 CYP51A1 skos:exactMatch hgnc.symbol:CYP51A1 semapv:UnspecifiedMatching OMIM:601637 CYP51A1 skos:exactMatch ncbigene:1595 semapv:UnspecifiedMatching -OMIM:601638 ARFIP2 skos:exactMatch hgnc:ARFIP2 semapv:UnspecifiedMatching +OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:17160 semapv:UnspecifiedMatching +OMIM:601638 ARFIP2 skos:exactMatch hgnc.symbol:ARFIP2 semapv:UnspecifiedMatching OMIM:601638 ARFIP2 skos:exactMatch ncbigene:23647 semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch UMLS:C1418901 semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching -OMIM:601639 PRKACA skos:exactMatch hgnc:PRKACA semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:9380 semapv:UnspecifiedMatching +OMIM:601639 PRKACA skos:exactMatch hgnc.symbol:PRKACA semapv:UnspecifiedMatching OMIM:601639 PRKACA skos:exactMatch ncbigene:5566 semapv:UnspecifiedMatching -OMIM:601641 ACOX2 skos:exactMatch hgnc:ACOX2 semapv:UnspecifiedMatching +OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:120 semapv:UnspecifiedMatching +OMIM:601641 ACOX2 skos:exactMatch hgnc.symbol:ACOX2 semapv:UnspecifiedMatching OMIM:601641 ACOX2 skos:exactMatch ncbigene:8309 semapv:UnspecifiedMatching -OMIM:601642 IL12RB2 skos:exactMatch hgnc:IL12RB2 semapv:UnspecifiedMatching +OMIM:601642 IL12RB2 skos:exactMatch hgnc.symbol:5972 semapv:UnspecifiedMatching +OMIM:601642 IL12RB2 skos:exactMatch hgnc.symbol:IL12RB2 semapv:UnspecifiedMatching OMIM:601642 IL12RB2 skos:exactMatch ncbigene:3595 semapv:UnspecifiedMatching -OMIM:601643 PPP2R5A skos:exactMatch hgnc:PPP2R5A semapv:UnspecifiedMatching +OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:9309 semapv:UnspecifiedMatching +OMIM:601643 PPP2R5A skos:exactMatch hgnc.symbol:PPP2R5A semapv:UnspecifiedMatching OMIM:601643 PPP2R5A skos:exactMatch ncbigene:5525 semapv:UnspecifiedMatching -OMIM:601644 PPP2R5B skos:exactMatch hgnc:PPP2R5B semapv:UnspecifiedMatching +OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:9310 semapv:UnspecifiedMatching +OMIM:601644 PPP2R5B skos:exactMatch hgnc.symbol:PPP2R5B semapv:UnspecifiedMatching OMIM:601644 PPP2R5B skos:exactMatch ncbigene:5526 semapv:UnspecifiedMatching -OMIM:601645 PPP2R5C skos:exactMatch hgnc:PPP2R5C semapv:UnspecifiedMatching +OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:9311 semapv:UnspecifiedMatching +OMIM:601645 PPP2R5C skos:exactMatch hgnc.symbol:PPP2R5C semapv:UnspecifiedMatching OMIM:601645 PPP2R5C skos:exactMatch ncbigene:5527 semapv:UnspecifiedMatching -OMIM:601646 PPP2R5D skos:exactMatch hgnc:PPP2R5D semapv:UnspecifiedMatching +OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:9312 semapv:UnspecifiedMatching +OMIM:601646 PPP2R5D skos:exactMatch hgnc.symbol:PPP2R5D semapv:UnspecifiedMatching OMIM:601646 PPP2R5D skos:exactMatch ncbigene:5528 semapv:UnspecifiedMatching -OMIM:601647 PPP2R5E skos:exactMatch hgnc:PPP2R5E semapv:UnspecifiedMatching +OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:9313 semapv:UnspecifiedMatching +OMIM:601647 PPP2R5E skos:exactMatch hgnc.symbol:PPP2R5E semapv:UnspecifiedMatching OMIM:601647 PPP2R5E skos:exactMatch ncbigene:5529 semapv:UnspecifiedMatching -OMIM:601648 PSMD4 skos:exactMatch hgnc:PSMD4 semapv:UnspecifiedMatching +OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:9561 semapv:UnspecifiedMatching +OMIM:601648 PSMD4 skos:exactMatch hgnc.symbol:PSMD4 semapv:UnspecifiedMatching OMIM:601648 PSMD4 skos:exactMatch ncbigene:5710 semapv:UnspecifiedMatching -OMIM:601651 NAP1L4 skos:exactMatch hgnc:NAP1L4 semapv:UnspecifiedMatching +OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:7640 semapv:UnspecifiedMatching +OMIM:601651 NAP1L4 skos:exactMatch hgnc.symbol:NAP1L4 semapv:UnspecifiedMatching OMIM:601651 NAP1L4 skos:exactMatch ncbigene:4676 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C1417573 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C1842028 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C1866550 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C4016749 semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch UMLS:C4016750 semapv:UnspecifiedMatching -OMIM:601652 MYOC skos:exactMatch hgnc:MYOC semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch hgnc.symbol:7610 semapv:UnspecifiedMatching +OMIM:601652 MYOC skos:exactMatch hgnc.symbol:MYOC semapv:UnspecifiedMatching OMIM:601652 MYOC skos:exactMatch ncbigene:4653 semapv:UnspecifiedMatching -OMIM:601653 EYA1 skos:exactMatch hgnc:EYA1 semapv:UnspecifiedMatching +OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:3519 semapv:UnspecifiedMatching +OMIM:601653 EYA1 skos:exactMatch hgnc.symbol:EYA1 semapv:UnspecifiedMatching OMIM:601653 EYA1 skos:exactMatch ncbigene:2138 semapv:UnspecifiedMatching -OMIM:601654 EYA2 skos:exactMatch hgnc:EYA2 semapv:UnspecifiedMatching +OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:3520 semapv:UnspecifiedMatching +OMIM:601654 EYA2 skos:exactMatch hgnc.symbol:EYA2 semapv:UnspecifiedMatching OMIM:601654 EYA2 skos:exactMatch ncbigene:2139 semapv:UnspecifiedMatching -OMIM:601655 EYA3 skos:exactMatch hgnc:EYA3 semapv:UnspecifiedMatching +OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:3521 semapv:UnspecifiedMatching +OMIM:601655 EYA3 skos:exactMatch hgnc.symbol:EYA3 semapv:UnspecifiedMatching OMIM:601655 EYA3 skos:exactMatch ncbigene:2140 semapv:UnspecifiedMatching -OMIM:601656 GATA6 skos:exactMatch hgnc:GATA6 semapv:UnspecifiedMatching +OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:4174 semapv:UnspecifiedMatching +OMIM:601656 GATA6 skos:exactMatch hgnc.symbol:GATA6 semapv:UnspecifiedMatching OMIM:601656 GATA6 skos:exactMatch ncbigene:2627 semapv:UnspecifiedMatching -OMIM:601657 EPYC skos:exactMatch hgnc:EPYC semapv:UnspecifiedMatching +OMIM:601657 EPYC skos:exactMatch hgnc.symbol:3053 semapv:UnspecifiedMatching +OMIM:601657 EPYC skos:exactMatch hgnc.symbol:EPYC semapv:UnspecifiedMatching OMIM:601657 EPYC skos:exactMatch ncbigene:1833 semapv:UnspecifiedMatching -OMIM:601658 OC90 skos:exactMatch hgnc:OC90 semapv:UnspecifiedMatching +OMIM:601658 OC90 skos:exactMatch hgnc.symbol:8100 semapv:UnspecifiedMatching +OMIM:601658 OC90 skos:exactMatch hgnc.symbol:OC90 semapv:UnspecifiedMatching OMIM:601658 OC90 skos:exactMatch ncbigene:729330 semapv:UnspecifiedMatching -OMIM:601659 GATD3A skos:exactMatch hgnc:GATD3 semapv:UnspecifiedMatching +OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:1273 semapv:UnspecifiedMatching +OMIM:601659 GATD3A skos:exactMatch hgnc.symbol:GATD3 semapv:UnspecifiedMatching OMIM:601659 GATD3A skos:exactMatch ncbigene:8209 semapv:UnspecifiedMatching OMIM:601661 UBE2I skos:exactMatch UMLS:C1421283 semapv:UnspecifiedMatching -OMIM:601661 UBE2I skos:exactMatch hgnc:UBE2I semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:12485 semapv:UnspecifiedMatching +OMIM:601661 UBE2I skos:exactMatch hgnc.symbol:UBE2I semapv:UnspecifiedMatching OMIM:601661 UBE2I skos:exactMatch ncbigene:7329 semapv:UnspecifiedMatching -OMIM:601662 ALCAM skos:exactMatch hgnc:ALCAM semapv:UnspecifiedMatching +OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:400 semapv:UnspecifiedMatching +OMIM:601662 ALCAM skos:exactMatch hgnc.symbol:ALCAM semapv:UnspecifiedMatching OMIM:601662 ALCAM skos:exactMatch ncbigene:214 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch UMLS:C1414462 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch UMLS:C4748626 semapv:UnspecifiedMatching -OMIM:601663 ESR2 skos:exactMatch hgnc:ESR2 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:3468 semapv:UnspecifiedMatching +OMIM:601663 ESR2 skos:exactMatch hgnc.symbol:ESR2 semapv:UnspecifiedMatching OMIM:601663 ESR2 skos:exactMatch ncbigene:2100 semapv:UnspecifiedMatching OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1540207 semapv:UnspecifiedMatching OMIM:601664 SNRNP200 skos:exactMatch UMLS:C1835895 semapv:UnspecifiedMatching -OMIM:601664 SNRNP200 skos:exactMatch hgnc:SNRNP200 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:30859 semapv:UnspecifiedMatching +OMIM:601664 SNRNP200 skos:exactMatch hgnc.symbol:SNRNP200 semapv:UnspecifiedMatching OMIM:601664 SNRNP200 skos:exactMatch ncbigene:23020 semapv:UnspecifiedMatching OMIM:601666 iia 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching -OMIM:601667 ANGPT1 skos:exactMatch hgnc:ANGPT1 semapv:UnspecifiedMatching +OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:484 semapv:UnspecifiedMatching +OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:ANGPT1 semapv:UnspecifiedMatching OMIM:601667 ANGPT1 skos:exactMatch ncbigene:284 semapv:UnspecifiedMatching -OMIM:601670 DPF1 skos:exactMatch hgnc:DPF1 semapv:UnspecifiedMatching +OMIM:601670 DPF1 skos:exactMatch hgnc.symbol:20225 semapv:UnspecifiedMatching +OMIM:601670 DPF1 skos:exactMatch hgnc.symbol:DPF1 semapv:UnspecifiedMatching OMIM:601670 DPF1 skos:exactMatch ncbigene:8193 semapv:UnspecifiedMatching -OMIM:601671 DPF2 skos:exactMatch hgnc:DPF2 semapv:UnspecifiedMatching +OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:9964 semapv:UnspecifiedMatching +OMIM:601671 DPF2 skos:exactMatch hgnc.symbol:DPF2 semapv:UnspecifiedMatching OMIM:601671 DPF2 skos:exactMatch ncbigene:5977 semapv:UnspecifiedMatching -OMIM:601672 DPF3 skos:exactMatch hgnc:DPF3 semapv:UnspecifiedMatching +OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:17427 semapv:UnspecifiedMatching +OMIM:601672 DPF3 skos:exactMatch hgnc.symbol:DPF3 semapv:UnspecifiedMatching OMIM:601672 DPF3 skos:exactMatch ncbigene:8110 semapv:UnspecifiedMatching OMIM:601673 ELAVL2 skos:exactMatch UMLS:C1414372 semapv:UnspecifiedMatching -OMIM:601673 ELAVL2 skos:exactMatch hgnc:ELAVL2 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:3313 semapv:UnspecifiedMatching +OMIM:601673 ELAVL2 skos:exactMatch hgnc.symbol:ELAVL2 semapv:UnspecifiedMatching OMIM:601673 ELAVL2 skos:exactMatch ncbigene:1993 semapv:UnspecifiedMatching -OMIM:601674 EZH1 skos:exactMatch hgnc:EZH1 semapv:UnspecifiedMatching +OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:3526 semapv:UnspecifiedMatching +OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:EZH1 semapv:UnspecifiedMatching OMIM:601674 EZH1 skos:exactMatch ncbigene:2145 semapv:UnspecifiedMatching OMIM:601677 NDUFA5 skos:exactMatch UMLS:C1417625 semapv:UnspecifiedMatching -OMIM:601677 NDUFA5 skos:exactMatch hgnc:NDUFA5 semapv:UnspecifiedMatching +OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:7688 semapv:UnspecifiedMatching +OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:NDUFA5 semapv:UnspecifiedMatching OMIM:601677 NDUFA5 skos:exactMatch ncbigene:4698 semapv:UnspecifiedMatching -OMIM:601679 GTF2I skos:exactMatch hgnc:GTF2I semapv:UnspecifiedMatching +OMIM:601679 GTF2I skos:exactMatch hgnc.symbol:4659 semapv:UnspecifiedMatching +OMIM:601679 GTF2I skos:exactMatch hgnc.symbol:GTF2I semapv:UnspecifiedMatching OMIM:601679 GTF2I skos:exactMatch ncbigene:2969 semapv:UnspecifiedMatching -OMIM:601681 PSMC5 skos:exactMatch hgnc:PSMC5 semapv:UnspecifiedMatching +OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:9552 semapv:UnspecifiedMatching +OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:PSMC5 semapv:UnspecifiedMatching OMIM:601681 PSMC5 skos:exactMatch ncbigene:5705 semapv:UnspecifiedMatching -OMIM:601683 COQ7 skos:exactMatch hgnc:COQ7 semapv:UnspecifiedMatching +OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:2244 semapv:UnspecifiedMatching +OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:COQ7 semapv:UnspecifiedMatching OMIM:601683 COQ7 skos:exactMatch ncbigene:10229 semapv:UnspecifiedMatching -OMIM:601684 RPS6KA1 skos:exactMatch hgnc:RPS6KA1 semapv:UnspecifiedMatching +OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:10430 semapv:UnspecifiedMatching +OMIM:601684 RPS6KA1 skos:exactMatch hgnc.symbol:RPS6KA1 semapv:UnspecifiedMatching OMIM:601684 RPS6KA1 skos:exactMatch ncbigene:6195 semapv:UnspecifiedMatching -OMIM:601685 RPS6KA2 skos:exactMatch hgnc:RPS6KA2 semapv:UnspecifiedMatching +OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:10431 semapv:UnspecifiedMatching +OMIM:601685 RPS6KA2 skos:exactMatch hgnc.symbol:RPS6KA2 semapv:UnspecifiedMatching OMIM:601685 RPS6KA2 skos:exactMatch ncbigene:6196 semapv:UnspecifiedMatching -OMIM:601686 TEP1 skos:exactMatch hgnc:TEP1 semapv:UnspecifiedMatching +OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:11726 semapv:UnspecifiedMatching +OMIM:601686 TEP1 skos:exactMatch hgnc.symbol:TEP1 semapv:UnspecifiedMatching OMIM:601686 TEP1 skos:exactMatch ncbigene:7011 semapv:UnspecifiedMatching OMIM:601687 KRT12 skos:exactMatch UMLS:C1416715 semapv:UnspecifiedMatching OMIM:601687 KRT12 skos:exactMatch UMLS:C5231499 semapv:UnspecifiedMatching -OMIM:601687 KRT12 skos:exactMatch hgnc:KRT12 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:6414 semapv:UnspecifiedMatching +OMIM:601687 KRT12 skos:exactMatch hgnc.symbol:KRT12 semapv:UnspecifiedMatching OMIM:601687 KRT12 skos:exactMatch ncbigene:3859 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C0345408 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C1415699 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C2678439 semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch UMLS:C4551679 semapv:UnspecifiedMatching -OMIM:601688 HPGD skos:exactMatch hgnc:HPGD semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch hgnc.symbol:5154 semapv:UnspecifiedMatching +OMIM:601688 HPGD skos:exactMatch hgnc.symbol:HPGD semapv:UnspecifiedMatching OMIM:601688 HPGD skos:exactMatch ncbigene:3248 semapv:UnspecifiedMatching OMIM:601689 TAF4B skos:exactMatch UMLS:C1420572 semapv:UnspecifiedMatching OMIM:601689 TAF4B skos:exactMatch UMLS:C4014449 semapv:UnspecifiedMatching -OMIM:601689 TAF4B skos:exactMatch hgnc:TAF4B semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:11538 semapv:UnspecifiedMatching +OMIM:601689 TAF4B skos:exactMatch hgnc.symbol:TAF4B semapv:UnspecifiedMatching OMIM:601689 TAF4B skos:exactMatch ncbigene:6875 semapv:UnspecifiedMatching -OMIM:601690 PLA2G7 skos:exactMatch hgnc:PLA2G7 semapv:UnspecifiedMatching +OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:9040 semapv:UnspecifiedMatching +OMIM:601690 PLA2G7 skos:exactMatch hgnc.symbol:PLA2G7 semapv:UnspecifiedMatching OMIM:601690 PLA2G7 skos:exactMatch ncbigene:7941 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C0271093 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C1412063 semapv:UnspecifiedMatching @@ -12426,7 +16755,8 @@ OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858080 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C1866422 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch UMLS:C1970573 semapv:UnspecifiedMatching -OMIM:601691 ABCA4 skos:exactMatch hgnc:ABCA4 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:34 semapv:UnspecifiedMatching +OMIM:601691 ABCA4 skos:exactMatch hgnc.symbol:ABCA4 semapv:UnspecifiedMatching OMIM:601691 ABCA4 skos:exactMatch ncbigene:24 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C0339278 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C0521723 semapv:UnspecifiedMatching @@ -12436,64 +16766,87 @@ OMIM:601692 TGFBI skos:exactMatch UMLS:C1562894 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1641846 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1690006 semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching -OMIM:601692 TGFBI skos:exactMatch hgnc:TGFBI semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:11771 semapv:UnspecifiedMatching +OMIM:601692 TGFBI skos:exactMatch hgnc.symbol:TGFBI semapv:UnspecifiedMatching OMIM:601692 TGFBI skos:exactMatch ncbigene:7045 semapv:UnspecifiedMatching -OMIM:601693 UCP2 skos:exactMatch hgnc:UCP2 semapv:UnspecifiedMatching +OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:12518 semapv:UnspecifiedMatching +OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:UCP2 semapv:UnspecifiedMatching OMIM:601693 UCP2 skos:exactMatch ncbigene:7351 semapv:UnspecifiedMatching -OMIM:601695 CSN3 skos:exactMatch hgnc:CSN3 semapv:UnspecifiedMatching +OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:2446 semapv:UnspecifiedMatching +OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:CSN3 semapv:UnspecifiedMatching OMIM:601695 CSN3 skos:exactMatch ncbigene:1448 semapv:UnspecifiedMatching -OMIM:601697 SERPINB8 skos:exactMatch hgnc:SERPINB8 semapv:UnspecifiedMatching +OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:8952 semapv:UnspecifiedMatching +OMIM:601697 SERPINB8 skos:exactMatch hgnc.symbol:SERPINB8 semapv:UnspecifiedMatching OMIM:601697 SERPINB8 skos:exactMatch ncbigene:5271 semapv:UnspecifiedMatching -OMIM:601698 PTPRN2 skos:exactMatch hgnc:PTPRN2 semapv:UnspecifiedMatching +OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:9677 semapv:UnspecifiedMatching +OMIM:601698 PTPRN2 skos:exactMatch hgnc.symbol:PTPRN2 semapv:UnspecifiedMatching OMIM:601698 PTPRN2 skos:exactMatch ncbigene:5799 semapv:UnspecifiedMatching -OMIM:601699 PTGIS skos:exactMatch hgnc:PTGIS semapv:UnspecifiedMatching +OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:9603 semapv:UnspecifiedMatching +OMIM:601699 PTGIS skos:exactMatch hgnc.symbol:PTGIS semapv:UnspecifiedMatching OMIM:601699 PTGIS skos:exactMatch ncbigene:5740 semapv:UnspecifiedMatching -OMIM:601702 ROCK1 skos:exactMatch hgnc:ROCK1 semapv:UnspecifiedMatching +OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:10251 semapv:UnspecifiedMatching +OMIM:601702 ROCK1 skos:exactMatch hgnc.symbol:ROCK1 semapv:UnspecifiedMatching OMIM:601702 ROCK1 skos:exactMatch ncbigene:6093 semapv:UnspecifiedMatching -OMIM:601703 VASP skos:exactMatch hgnc:VASP semapv:UnspecifiedMatching +OMIM:601703 VASP skos:exactMatch hgnc.symbol:12652 semapv:UnspecifiedMatching +OMIM:601703 VASP skos:exactMatch hgnc.symbol:VASP semapv:UnspecifiedMatching OMIM:601703 VASP skos:exactMatch ncbigene:7408 semapv:UnspecifiedMatching -OMIM:601704 CXCL9 skos:exactMatch hgnc:CXCL9 semapv:UnspecifiedMatching +OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:7098 semapv:UnspecifiedMatching +OMIM:601704 CXCL9 skos:exactMatch hgnc.symbol:CXCL9 semapv:UnspecifiedMatching OMIM:601704 CXCL9 skos:exactMatch ncbigene:4283 semapv:UnspecifiedMatching +OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch UMLS:C1866426 semapv:UnspecifiedMatching -OMIM:601705 t-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch orphanet.ordo:169095 semapv:UnspecifiedMatching +OMIM:601707 curry-jones syndrome skos:exactMatch Orphanet:1553 semapv:UnspecifiedMatching OMIM:601707 curry-jones syndrome skos:exactMatch UMLS:C0795915 semapv:UnspecifiedMatching -OMIM:601707 curry-jones syndrome skos:exactMatch orphanet.ordo:1553 semapv:UnspecifiedMatching -OMIM:601710 EIF5 skos:exactMatch hgnc:EIF5 semapv:UnspecifiedMatching +OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:3299 semapv:UnspecifiedMatching +OMIM:601710 EIF5 skos:exactMatch hgnc.symbol:EIF5 semapv:UnspecifiedMatching OMIM:601710 EIF5 skos:exactMatch ncbigene:1983 semapv:UnspecifiedMatching -OMIM:601711 TRAF1 skos:exactMatch hgnc:TRAF1 semapv:UnspecifiedMatching +OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:12031 semapv:UnspecifiedMatching +OMIM:601711 TRAF1 skos:exactMatch hgnc.symbol:TRAF1 semapv:UnspecifiedMatching OMIM:601711 TRAF1 skos:exactMatch ncbigene:7185 semapv:UnspecifiedMatching -OMIM:601712 BIRC2 skos:exactMatch hgnc:BIRC2 semapv:UnspecifiedMatching +OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:590 semapv:UnspecifiedMatching +OMIM:601712 BIRC2 skos:exactMatch hgnc.symbol:BIRC2 semapv:UnspecifiedMatching OMIM:601712 BIRC2 skos:exactMatch ncbigene:329 semapv:UnspecifiedMatching -OMIM:601713 GMFB skos:exactMatch hgnc:GMFB semapv:UnspecifiedMatching +OMIM:601713 GMFB skos:exactMatch hgnc.symbol:4373 semapv:UnspecifiedMatching +OMIM:601713 GMFB skos:exactMatch hgnc.symbol:GMFB semapv:UnspecifiedMatching OMIM:601713 GMFB skos:exactMatch ncbigene:2764 semapv:UnspecifiedMatching -OMIM:601714 TEAD4 skos:exactMatch hgnc:TEAD4 semapv:UnspecifiedMatching +OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:11717 semapv:UnspecifiedMatching +OMIM:601714 TEAD4 skos:exactMatch hgnc.symbol:TEAD4 semapv:UnspecifiedMatching OMIM:601714 TEAD4 skos:exactMatch ncbigene:7004 semapv:UnspecifiedMatching OMIM:601716 STAU1 skos:exactMatch UMLS:C1823131 semapv:UnspecifiedMatching -OMIM:601716 STAU1 skos:exactMatch hgnc:STAU1 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:11370 semapv:UnspecifiedMatching +OMIM:601716 STAU1 skos:exactMatch hgnc.symbol:STAU1 semapv:UnspecifiedMatching OMIM:601716 STAU1 skos:exactMatch ncbigene:6780 semapv:UnspecifiedMatching -OMIM:601717 STXBP2 skos:exactMatch hgnc:STXBP2 semapv:UnspecifiedMatching +OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:11445 semapv:UnspecifiedMatching +OMIM:601717 STXBP2 skos:exactMatch hgnc.symbol:STXBP2 semapv:UnspecifiedMatching OMIM:601717 STXBP2 skos:exactMatch ncbigene:6813 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch UMLS:C1420614 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch UMLS:C1832432 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch UMLS:C1840061 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch UMLS:C5231525 semapv:UnspecifiedMatching -OMIM:601719 TBX4 skos:exactMatch hgnc:TBX4 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:11603 semapv:UnspecifiedMatching +OMIM:601719 TBX4 skos:exactMatch hgnc.symbol:TBX4 semapv:UnspecifiedMatching OMIM:601719 TBX4 skos:exactMatch ncbigene:9496 semapv:UnspecifiedMatching OMIM:601720 KIN skos:exactMatch UMLS:C1416642 semapv:UnspecifiedMatching -OMIM:601720 KIN skos:exactMatch hgnc:KIN semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch hgnc.symbol:6327 semapv:UnspecifiedMatching +OMIM:601720 KIN skos:exactMatch hgnc.symbol:KIN semapv:UnspecifiedMatching OMIM:601720 KIN skos:exactMatch ncbigene:22944 semapv:UnspecifiedMatching -OMIM:601721 BIRC3 skos:exactMatch hgnc:BIRC3 semapv:UnspecifiedMatching +OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:591 semapv:UnspecifiedMatching +OMIM:601721 BIRC3 skos:exactMatch hgnc.symbol:BIRC3 semapv:UnspecifiedMatching OMIM:601721 BIRC3 skos:exactMatch ncbigene:330 semapv:UnspecifiedMatching -OMIM:601723 FZD5 skos:exactMatch hgnc:FZD5 semapv:UnspecifiedMatching +OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:4043 semapv:UnspecifiedMatching +OMIM:601723 FZD5 skos:exactMatch hgnc.symbol:FZD5 semapv:UnspecifiedMatching OMIM:601723 FZD5 skos:exactMatch ncbigene:7855 semapv:UnspecifiedMatching -OMIM:601724 NEUROD1 skos:exactMatch hgnc:NEUROD1 semapv:UnspecifiedMatching +OMIM:601724 NEUROD1 skos:exactMatch hgnc.symbol:7762 semapv:UnspecifiedMatching +OMIM:601724 NEUROD1 skos:exactMatch hgnc.symbol:NEUROD1 semapv:UnspecifiedMatching OMIM:601724 NEUROD1 skos:exactMatch ncbigene:4760 semapv:UnspecifiedMatching OMIM:601725 NEUROD2 skos:exactMatch UMLS:C1417684 semapv:UnspecifiedMatching OMIM:601725 NEUROD2 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching -OMIM:601725 NEUROD2 skos:exactMatch hgnc:NEUROD2 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch hgnc.symbol:7763 semapv:UnspecifiedMatching +OMIM:601725 NEUROD2 skos:exactMatch hgnc.symbol:NEUROD2 semapv:UnspecifiedMatching OMIM:601725 NEUROD2 skos:exactMatch ncbigene:4761 semapv:UnspecifiedMatching -OMIM:601726 NEUROG1 skos:exactMatch hgnc:NEUROG1 semapv:UnspecifiedMatching +OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:7764 semapv:UnspecifiedMatching +OMIM:601726 NEUROG1 skos:exactMatch hgnc.symbol:NEUROG1 semapv:UnspecifiedMatching OMIM:601726 NEUROG1 skos:exactMatch ncbigene:4762 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C0018553 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C0025286 semapv:UnspecifiedMatching @@ -12507,893 +16860,1269 @@ OMIM:601728 PTEN skos:exactMatch UMLS:C4015779 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch UMLS:C4016742 semapv:UnspecifiedMatching -OMIM:601728 PTEN skos:exactMatch hgnc:PTEN semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch hgnc.symbol:9588 semapv:UnspecifiedMatching +OMIM:601728 PTEN skos:exactMatch hgnc.symbol:PTEN semapv:UnspecifiedMatching OMIM:601728 PTEN skos:exactMatch ncbigene:5728 semapv:UnspecifiedMatching -OMIM:601729 TEAD2 skos:exactMatch hgnc:TEAD2 semapv:UnspecifiedMatching +OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:11715 semapv:UnspecifiedMatching +OMIM:601729 TEAD2 skos:exactMatch hgnc.symbol:TEAD2 semapv:UnspecifiedMatching OMIM:601729 TEAD2 skos:exactMatch ncbigene:8463 semapv:UnspecifiedMatching -OMIM:601730 PIGC skos:exactMatch hgnc:PIGC semapv:UnspecifiedMatching +OMIM:601730 PIGC skos:exactMatch hgnc.symbol:8960 semapv:UnspecifiedMatching +OMIM:601730 PIGC skos:exactMatch hgnc.symbol:PIGC semapv:UnspecifiedMatching OMIM:601730 PIGC skos:exactMatch ncbigene:5279 semapv:UnspecifiedMatching OMIM:601731 ATIC skos:exactMatch UMLS:C1412625 semapv:UnspecifiedMatching OMIM:601731 ATIC skos:exactMatch UMLS:C4225570 semapv:UnspecifiedMatching -OMIM:601731 ATIC skos:exactMatch hgnc:ATIC semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch hgnc.symbol:794 semapv:UnspecifiedMatching +OMIM:601731 ATIC skos:exactMatch hgnc.symbol:ATIC semapv:UnspecifiedMatching OMIM:601731 ATIC skos:exactMatch ncbigene:471 semapv:UnspecifiedMatching OMIM:601732 SMARCC1 skos:exactMatch UMLS:C1335845 semapv:UnspecifiedMatching -OMIM:601732 SMARCC1 skos:exactMatch hgnc:SMARCC1 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:11104 semapv:UnspecifiedMatching +OMIM:601732 SMARCC1 skos:exactMatch hgnc.symbol:SMARCC1 semapv:UnspecifiedMatching OMIM:601732 SMARCC1 skos:exactMatch ncbigene:6599 semapv:UnspecifiedMatching -OMIM:601733 MGST2 skos:exactMatch hgnc:MGST2 semapv:UnspecifiedMatching +OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:7063 semapv:UnspecifiedMatching +OMIM:601733 MGST2 skos:exactMatch hgnc.symbol:MGST2 semapv:UnspecifiedMatching OMIM:601733 MGST2 skos:exactMatch ncbigene:4258 semapv:UnspecifiedMatching -OMIM:601734 SMARCC2 skos:exactMatch hgnc:SMARCC2 semapv:UnspecifiedMatching +OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:11105 semapv:UnspecifiedMatching +OMIM:601734 SMARCC2 skos:exactMatch hgnc.symbol:SMARCC2 semapv:UnspecifiedMatching OMIM:601734 SMARCC2 skos:exactMatch ncbigene:6601 semapv:UnspecifiedMatching OMIM:601735 SMARCD1 skos:exactMatch UMLS:C1335847 semapv:UnspecifiedMatching OMIM:601735 SMARCD1 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching -OMIM:601735 SMARCD1 skos:exactMatch hgnc:SMARCD1 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:11106 semapv:UnspecifiedMatching +OMIM:601735 SMARCD1 skos:exactMatch hgnc.symbol:SMARCD1 semapv:UnspecifiedMatching OMIM:601735 SMARCD1 skos:exactMatch ncbigene:6602 semapv:UnspecifiedMatching -OMIM:601736 SMARCD2 skos:exactMatch hgnc:SMARCD2 semapv:UnspecifiedMatching +OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:11107 semapv:UnspecifiedMatching +OMIM:601736 SMARCD2 skos:exactMatch hgnc.symbol:SMARCD2 semapv:UnspecifiedMatching OMIM:601736 SMARCD2 skos:exactMatch ncbigene:6603 semapv:UnspecifiedMatching -OMIM:601737 SMARCD3 skos:exactMatch hgnc:SMARCD3 semapv:UnspecifiedMatching +OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:11108 semapv:UnspecifiedMatching +OMIM:601737 SMARCD3 skos:exactMatch hgnc.symbol:SMARCD3 semapv:UnspecifiedMatching OMIM:601737 SMARCD3 skos:exactMatch ncbigene:6604 semapv:UnspecifiedMatching -OMIM:601738 EXTL1 skos:exactMatch hgnc:EXTL1 semapv:UnspecifiedMatching +OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:3515 semapv:UnspecifiedMatching +OMIM:601738 EXTL1 skos:exactMatch hgnc.symbol:EXTL1 semapv:UnspecifiedMatching OMIM:601738 EXTL1 skos:exactMatch ncbigene:2134 semapv:UnspecifiedMatching -OMIM:601739 MEIS1 skos:exactMatch hgnc:MEIS1 semapv:UnspecifiedMatching +OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:7000 semapv:UnspecifiedMatching +OMIM:601739 MEIS1 skos:exactMatch hgnc.symbol:MEIS1 semapv:UnspecifiedMatching OMIM:601739 MEIS1 skos:exactMatch ncbigene:4211 semapv:UnspecifiedMatching -OMIM:601740 MEIS2 skos:exactMatch hgnc:MEIS2 semapv:UnspecifiedMatching +OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:7001 semapv:UnspecifiedMatching +OMIM:601740 MEIS2 skos:exactMatch hgnc.symbol:MEIS2 semapv:UnspecifiedMatching OMIM:601740 MEIS2 skos:exactMatch ncbigene:4212 semapv:UnspecifiedMatching -OMIM:601741 CUL5 skos:exactMatch hgnc:CUL5 semapv:UnspecifiedMatching +OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:2556 semapv:UnspecifiedMatching +OMIM:601741 CUL5 skos:exactMatch hgnc.symbol:CUL5 semapv:UnspecifiedMatching OMIM:601741 CUL5 skos:exactMatch ncbigene:8065 semapv:UnspecifiedMatching -OMIM:601742 TRIM28 skos:exactMatch hgnc:TRIM28 semapv:UnspecifiedMatching +OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:16384 semapv:UnspecifiedMatching +OMIM:601742 TRIM28 skos:exactMatch hgnc.symbol:TRIM28 semapv:UnspecifiedMatching OMIM:601742 TRIM28 skos:exactMatch ncbigene:10155 semapv:UnspecifiedMatching -OMIM:601743 OSMR skos:exactMatch hgnc:OSMR semapv:UnspecifiedMatching +OMIM:601743 OSMR skos:exactMatch hgnc.symbol:8507 semapv:UnspecifiedMatching +OMIM:601743 OSMR skos:exactMatch hgnc.symbol:OSMR semapv:UnspecifiedMatching OMIM:601743 OSMR skos:exactMatch ncbigene:9180 semapv:UnspecifiedMatching -OMIM:601745 KCNK1 skos:exactMatch hgnc:KCNK1 semapv:UnspecifiedMatching +OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:6272 semapv:UnspecifiedMatching +OMIM:601745 KCNK1 skos:exactMatch hgnc.symbol:KCNK1 semapv:UnspecifiedMatching OMIM:601745 KCNK1 skos:exactMatch ncbigene:3775 semapv:UnspecifiedMatching -OMIM:601746 HYOU1 skos:exactMatch hgnc:HYOU1 semapv:UnspecifiedMatching +OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:16931 semapv:UnspecifiedMatching +OMIM:601746 HYOU1 skos:exactMatch hgnc.symbol:HYOU1 semapv:UnspecifiedMatching OMIM:601746 HYOU1 skos:exactMatch ncbigene:10525 semapv:UnspecifiedMatching -OMIM:601747 TRIM23 skos:exactMatch hgnc:TRIM23 semapv:UnspecifiedMatching +OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:660 semapv:UnspecifiedMatching +OMIM:601747 TRIM23 skos:exactMatch hgnc.symbol:TRIM23 semapv:UnspecifiedMatching OMIM:601747 TRIM23 skos:exactMatch ncbigene:373 semapv:UnspecifiedMatching -OMIM:601748 GTF2H2 skos:exactMatch hgnc:GTF2H2 semapv:UnspecifiedMatching +OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:4656 semapv:UnspecifiedMatching +OMIM:601748 GTF2H2 skos:exactMatch hgnc.symbol:GTF2H2 semapv:UnspecifiedMatching OMIM:601748 GTF2H2 skos:exactMatch ncbigene:2966 semapv:UnspecifiedMatching -OMIM:601749 GLMN skos:exactMatch hgnc:GLMN semapv:UnspecifiedMatching +OMIM:601749 GLMN skos:exactMatch hgnc.symbol:14373 semapv:UnspecifiedMatching +OMIM:601749 GLMN skos:exactMatch hgnc.symbol:GLMN semapv:UnspecifiedMatching OMIM:601749 GLMN skos:exactMatch ncbigene:11146 semapv:UnspecifiedMatching -OMIM:601750 GTF2H3 skos:exactMatch hgnc:GTF2H3 semapv:UnspecifiedMatching +OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:4657 semapv:UnspecifiedMatching +OMIM:601750 GTF2H3 skos:exactMatch hgnc.symbol:GTF2H3 semapv:UnspecifiedMatching OMIM:601750 GTF2H3 skos:exactMatch ncbigene:2967 semapv:UnspecifiedMatching -OMIM:601751 MCHR1 skos:exactMatch hgnc:MCHR1 semapv:UnspecifiedMatching +OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:4479 semapv:UnspecifiedMatching +OMIM:601751 MCHR1 skos:exactMatch hgnc.symbol:MCHR1 semapv:UnspecifiedMatching OMIM:601751 MCHR1 skos:exactMatch ncbigene:2847 semapv:UnspecifiedMatching -OMIM:601752 ENTPD1 skos:exactMatch hgnc:ENTPD1 semapv:UnspecifiedMatching +OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:3363 semapv:UnspecifiedMatching +OMIM:601752 ENTPD1 skos:exactMatch hgnc.symbol:ENTPD1 semapv:UnspecifiedMatching OMIM:601752 ENTPD1 skos:exactMatch ncbigene:953 semapv:UnspecifiedMatching -OMIM:601753 PPID skos:exactMatch hgnc:PPID semapv:UnspecifiedMatching +OMIM:601753 PPID skos:exactMatch hgnc.symbol:9257 semapv:UnspecifiedMatching +OMIM:601753 PPID skos:exactMatch hgnc.symbol:PPID semapv:UnspecifiedMatching OMIM:601753 PPID skos:exactMatch ncbigene:5481 semapv:UnspecifiedMatching -OMIM:601754 UFD1L skos:exactMatch hgnc:UFD1 semapv:UnspecifiedMatching +OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:12520 semapv:UnspecifiedMatching +OMIM:601754 UFD1L skos:exactMatch hgnc.symbol:UFD1 semapv:UnspecifiedMatching OMIM:601754 UFD1L skos:exactMatch ncbigene:7353 semapv:UnspecifiedMatching -OMIM:601755 ESS2 skos:exactMatch hgnc:ESS2 semapv:UnspecifiedMatching +OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:16817 semapv:UnspecifiedMatching +OMIM:601755 ESS2 skos:exactMatch hgnc.symbol:ESS2 semapv:UnspecifiedMatching OMIM:601755 ESS2 skos:exactMatch ncbigene:8220 semapv:UnspecifiedMatching -OMIM:601756 GALNT3 skos:exactMatch hgnc:GALNT3 semapv:UnspecifiedMatching +OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:4125 semapv:UnspecifiedMatching +OMIM:601756 GALNT3 skos:exactMatch hgnc.symbol:GALNT3 semapv:UnspecifiedMatching OMIM:601756 GALNT3 skos:exactMatch ncbigene:2591 semapv:UnspecifiedMatching -OMIM:601757 PEX7 skos:exactMatch hgnc:PEX7 semapv:UnspecifiedMatching +OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:8860 semapv:UnspecifiedMatching +OMIM:601757 PEX7 skos:exactMatch hgnc.symbol:PEX7 semapv:UnspecifiedMatching OMIM:601757 PEX7 skos:exactMatch ncbigene:5191 semapv:UnspecifiedMatching -OMIM:601758 PEX12 skos:exactMatch hgnc:PEX12 semapv:UnspecifiedMatching +OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:8854 semapv:UnspecifiedMatching +OMIM:601758 PEX12 skos:exactMatch hgnc.symbol:PEX12 semapv:UnspecifiedMatching OMIM:601758 PEX12 skos:exactMatch ncbigene:5193 semapv:UnspecifiedMatching -OMIM:601760 GTF2H4 skos:exactMatch hgnc:GTF2H4 semapv:UnspecifiedMatching +OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:4658 semapv:UnspecifiedMatching +OMIM:601760 GTF2H4 skos:exactMatch hgnc.symbol:GTF2H4 semapv:UnspecifiedMatching OMIM:601760 GTF2H4 skos:exactMatch ncbigene:2968 semapv:UnspecifiedMatching -OMIM:601761 CASP7 skos:exactMatch hgnc:CASP7 semapv:UnspecifiedMatching +OMIM:601761 CASP7 skos:exactMatch hgnc.symbol:1508 semapv:UnspecifiedMatching +OMIM:601761 CASP7 skos:exactMatch hgnc.symbol:CASP7 semapv:UnspecifiedMatching OMIM:601761 CASP7 skos:exactMatch ncbigene:840 semapv:UnspecifiedMatching -OMIM:601762 CASP10 skos:exactMatch hgnc:CASP10 semapv:UnspecifiedMatching +OMIM:601762 CASP10 skos:exactMatch hgnc.symbol:1500 semapv:UnspecifiedMatching +OMIM:601762 CASP10 skos:exactMatch hgnc.symbol:CASP10 semapv:UnspecifiedMatching OMIM:601762 CASP10 skos:exactMatch ncbigene:843 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C1332667 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C1846545 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C1968897 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C1969388 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch UMLS:C4016759 semapv:UnspecifiedMatching -OMIM:601763 CASP8 skos:exactMatch hgnc:CASP8 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:1509 semapv:UnspecifiedMatching +OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:CASP8 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch ncbigene:841 semapv:UnspecifiedMatching -OMIM:601766 FZD9 skos:exactMatch hgnc:FZD9 semapv:UnspecifiedMatching +OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:4047 semapv:UnspecifiedMatching +OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:FZD9 semapv:UnspecifiedMatching OMIM:601766 FZD9 skos:exactMatch ncbigene:8326 semapv:UnspecifiedMatching -OMIM:601767 HIP1 skos:exactMatch hgnc:HIP1 semapv:UnspecifiedMatching +OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:4913 semapv:UnspecifiedMatching +OMIM:601767 HIP1 skos:exactMatch hgnc.symbol:HIP1 semapv:UnspecifiedMatching OMIM:601767 HIP1 skos:exactMatch ncbigene:3092 semapv:UnspecifiedMatching -OMIM:601768 SH3GL1 skos:exactMatch hgnc:SH3GL1 semapv:UnspecifiedMatching +OMIM:601768 SH3GL1 skos:exactMatch hgnc.symbol:10830 semapv:UnspecifiedMatching +OMIM:601768 SH3GL1 skos:exactMatch hgnc.symbol:SH3GL1 semapv:UnspecifiedMatching OMIM:601768 SH3GL1 skos:exactMatch ncbigene:6455 semapv:UnspecifiedMatching -OMIM:601769 VDR skos:exactMatch hgnc:VDR semapv:UnspecifiedMatching +OMIM:601769 VDR skos:exactMatch hgnc.symbol:12679 semapv:UnspecifiedMatching +OMIM:601769 VDR skos:exactMatch hgnc.symbol:VDR semapv:UnspecifiedMatching OMIM:601769 VDR skos:exactMatch ncbigene:7421 semapv:UnspecifiedMatching -OMIM:601770 NPY6R skos:exactMatch hgnc:NPY6R semapv:UnspecifiedMatching +OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:7959 semapv:UnspecifiedMatching +OMIM:601770 NPY6R skos:exactMatch hgnc.symbol:NPY6R semapv:UnspecifiedMatching OMIM:601770 NPY6R skos:exactMatch ncbigene:4888 semapv:UnspecifiedMatching -OMIM:601771 CYP1B1 skos:exactMatch hgnc:CYP1B1 semapv:UnspecifiedMatching +OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:2597 semapv:UnspecifiedMatching +OMIM:601771 CYP1B1 skos:exactMatch hgnc.symbol:CYP1B1 semapv:UnspecifiedMatching OMIM:601771 CYP1B1 skos:exactMatch ncbigene:1545 semapv:UnspecifiedMatching -OMIM:601772 H2AFX skos:exactMatch hgnc:H2AX semapv:UnspecifiedMatching +OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:4739 semapv:UnspecifiedMatching +OMIM:601772 H2AFX skos:exactMatch hgnc.symbol:H2AX semapv:UnspecifiedMatching OMIM:601772 H2AFX skos:exactMatch ncbigene:3014 semapv:UnspecifiedMatching -OMIM:601773 PTPRN skos:exactMatch hgnc:PTPRN semapv:UnspecifiedMatching +OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:9676 semapv:UnspecifiedMatching +OMIM:601773 PTPRN skos:exactMatch hgnc.symbol:PTPRN semapv:UnspecifiedMatching OMIM:601773 PTPRN skos:exactMatch ncbigene:5798 semapv:UnspecifiedMatching -OMIM:601774 MGAT5 skos:exactMatch hgnc:MGAT5 semapv:UnspecifiedMatching +OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:7049 semapv:UnspecifiedMatching +OMIM:601774 MGAT5 skos:exactMatch hgnc.symbol:MGAT5 semapv:UnspecifiedMatching OMIM:601774 MGAT5 skos:exactMatch ncbigene:4249 semapv:UnspecifiedMatching -OMIM:601778 POLRMT skos:exactMatch hgnc:POLRMT semapv:UnspecifiedMatching +OMIM:601778 POLRMT skos:exactMatch hgnc.symbol:9200 semapv:UnspecifiedMatching +OMIM:601778 POLRMT skos:exactMatch hgnc.symbol:POLRMT semapv:UnspecifiedMatching OMIM:601778 POLRMT skos:exactMatch ncbigene:5442 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:228363 semapv:UnspecifiedMatching +OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch Orphanet:79262 semapv:UnspecifiedMatching OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch orphanet.ordo:168491 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch orphanet.ordo:228363 semapv:UnspecifiedMatching -OMIM:601780 ceroid lipofuscinosis, neuronal, 6a skos:exactMatch orphanet.ordo:79262 semapv:UnspecifiedMatching -OMIM:601782 TESK1 skos:exactMatch hgnc:TESK1 semapv:UnspecifiedMatching +OMIM:601782 TESK1 skos:exactMatch hgnc.symbol:11731 semapv:UnspecifiedMatching +OMIM:601782 TESK1 skos:exactMatch hgnc.symbol:TESK1 semapv:UnspecifiedMatching OMIM:601782 TESK1 skos:exactMatch ncbigene:7016 semapv:UnspecifiedMatching -OMIM:601783 MAP6 skos:exactMatch hgnc:MAP6 semapv:UnspecifiedMatching +OMIM:601783 MAP6 skos:exactMatch hgnc.symbol:6868 semapv:UnspecifiedMatching +OMIM:601783 MAP6 skos:exactMatch hgnc.symbol:MAP6 semapv:UnspecifiedMatching OMIM:601783 MAP6 skos:exactMatch ncbigene:4135 semapv:UnspecifiedMatching -OMIM:601784 ASIC2 skos:exactMatch hgnc:ASIC2 semapv:UnspecifiedMatching +OMIM:601784 ASIC2 skos:exactMatch hgnc.symbol:99 semapv:UnspecifiedMatching +OMIM:601784 ASIC2 skos:exactMatch hgnc.symbol:ASIC2 semapv:UnspecifiedMatching OMIM:601784 ASIC2 skos:exactMatch ncbigene:40 semapv:UnspecifiedMatching OMIM:601785 PMM2 skos:exactMatch UMLS:C0349653 semapv:UnspecifiedMatching OMIM:601785 PMM2 skos:exactMatch UMLS:C1418674 semapv:UnspecifiedMatching -OMIM:601785 PMM2 skos:exactMatch hgnc:PMM2 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:9115 semapv:UnspecifiedMatching +OMIM:601785 PMM2 skos:exactMatch hgnc.symbol:PMM2 semapv:UnspecifiedMatching OMIM:601785 PMM2 skos:exactMatch ncbigene:5373 semapv:UnspecifiedMatching -OMIM:601786 PMM1 skos:exactMatch hgnc:PMM1 semapv:UnspecifiedMatching +OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:9114 semapv:UnspecifiedMatching +OMIM:601786 PMM1 skos:exactMatch hgnc.symbol:PMM1 semapv:UnspecifiedMatching OMIM:601786 PMM1 skos:exactMatch ncbigene:5372 semapv:UnspecifiedMatching -OMIM:601787 TAF5 skos:exactMatch hgnc:TAF5 semapv:UnspecifiedMatching +OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:11539 semapv:UnspecifiedMatching +OMIM:601787 TAF5 skos:exactMatch hgnc.symbol:TAF5 semapv:UnspecifiedMatching OMIM:601787 TAF5 skos:exactMatch ncbigene:6877 semapv:UnspecifiedMatching -OMIM:601788 MSTN skos:exactMatch hgnc:MSTN semapv:UnspecifiedMatching +OMIM:601788 MSTN skos:exactMatch hgnc.symbol:4223 semapv:UnspecifiedMatching +OMIM:601788 MSTN skos:exactMatch hgnc.symbol:MSTN semapv:UnspecifiedMatching OMIM:601788 MSTN skos:exactMatch ncbigene:2660 semapv:UnspecifiedMatching -OMIM:601789 PEX13 skos:exactMatch hgnc:PEX13 semapv:UnspecifiedMatching +OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:8855 semapv:UnspecifiedMatching +OMIM:601789 PEX13 skos:exactMatch hgnc.symbol:PEX13 semapv:UnspecifiedMatching OMIM:601789 PEX13 skos:exactMatch ncbigene:5194 semapv:UnspecifiedMatching -OMIM:601790 PPYR1 skos:exactMatch hgnc:NPY4R semapv:UnspecifiedMatching +OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:9329 semapv:UnspecifiedMatching +OMIM:601790 PPYR1 skos:exactMatch hgnc.symbol:NPY4R semapv:UnspecifiedMatching OMIM:601790 PPYR1 skos:exactMatch ncbigene:5540 semapv:UnspecifiedMatching -OMIM:601791 PEX14 skos:exactMatch hgnc:PEX14 semapv:UnspecifiedMatching +OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:8856 semapv:UnspecifiedMatching +OMIM:601791 PEX14 skos:exactMatch hgnc.symbol:PEX14 semapv:UnspecifiedMatching OMIM:601791 PEX14 skos:exactMatch ncbigene:5195 semapv:UnspecifiedMatching -OMIM:601792 PPP1R2 skos:exactMatch hgnc:PPP1R2 semapv:UnspecifiedMatching +OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:9288 semapv:UnspecifiedMatching +OMIM:601792 PPP1R2 skos:exactMatch hgnc.symbol:PPP1R2 semapv:UnspecifiedMatching OMIM:601792 PPP1R2 skos:exactMatch ncbigene:5504 semapv:UnspecifiedMatching OMIM:601795 MAPK3 skos:exactMatch UMLS:C1366765 semapv:UnspecifiedMatching -OMIM:601795 MAPK3 skos:exactMatch hgnc:MAPK3 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:6877 semapv:UnspecifiedMatching +OMIM:601795 MAPK3 skos:exactMatch hgnc.symbol:MAPK3 semapv:UnspecifiedMatching OMIM:601795 MAPK3 skos:exactMatch ncbigene:5595 semapv:UnspecifiedMatching -OMIM:601796 TAF4 skos:exactMatch hgnc:TAF4 semapv:UnspecifiedMatching +OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:11537 semapv:UnspecifiedMatching +OMIM:601796 TAF4 skos:exactMatch hgnc.symbol:TAF4 semapv:UnspecifiedMatching OMIM:601796 TAF4 skos:exactMatch ncbigene:6874 semapv:UnspecifiedMatching -OMIM:601797 CRYBG1 skos:exactMatch hgnc:CRYBG1 semapv:UnspecifiedMatching +OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:356 semapv:UnspecifiedMatching +OMIM:601797 CRYBG1 skos:exactMatch hgnc.symbol:CRYBG1 semapv:UnspecifiedMatching OMIM:601797 CRYBG1 skos:exactMatch ncbigene:202 semapv:UnspecifiedMatching -OMIM:601798 GNPDA1 skos:exactMatch hgnc:GNPDA1 semapv:UnspecifiedMatching +OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:4417 semapv:UnspecifiedMatching +OMIM:601798 GNPDA1 skos:exactMatch hgnc.symbol:GNPDA1 semapv:UnspecifiedMatching OMIM:601798 GNPDA1 skos:exactMatch ncbigene:10007 semapv:UnspecifiedMatching -OMIM:601799 PI9 skos:exactMatch hgnc:SERPINB9 semapv:UnspecifiedMatching +OMIM:601799 PI9 skos:exactMatch hgnc.symbol:8955 semapv:UnspecifiedMatching +OMIM:601799 PI9 skos:exactMatch hgnc.symbol:SERPINB9 semapv:UnspecifiedMatching OMIM:601799 PI9 skos:exactMatch ncbigene:5272 semapv:UnspecifiedMatching -OMIM:601801 SP2 skos:exactMatch hgnc:SP2 semapv:UnspecifiedMatching +OMIM:601801 SP2 skos:exactMatch hgnc.symbol:11207 semapv:UnspecifiedMatching +OMIM:601801 SP2 skos:exactMatch hgnc.symbol:SP2 semapv:UnspecifiedMatching OMIM:601801 SP2 skos:exactMatch ncbigene:6668 semapv:UnspecifiedMatching -OMIM:601802 HESX1 skos:exactMatch hgnc:HESX1 semapv:UnspecifiedMatching +OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:4877 semapv:UnspecifiedMatching +OMIM:601802 HESX1 skos:exactMatch hgnc.symbol:HESX1 semapv:UnspecifiedMatching OMIM:601802 HESX1 skos:exactMatch ncbigene:8820 semapv:UnspecifiedMatching -OMIM:601804 SP3 skos:exactMatch hgnc:SP3 semapv:UnspecifiedMatching +OMIM:601804 SP3 skos:exactMatch hgnc.symbol:11208 semapv:UnspecifiedMatching +OMIM:601804 SP3 skos:exactMatch hgnc.symbol:SP3 semapv:UnspecifiedMatching OMIM:601804 SP3 skos:exactMatch ncbigene:6670 semapv:UnspecifiedMatching -OMIM:601805 GPER1 skos:exactMatch hgnc:GPER1 semapv:UnspecifiedMatching +OMIM:601805 GPER1 skos:exactMatch hgnc.symbol:4485 semapv:UnspecifiedMatching +OMIM:601805 GPER1 skos:exactMatch hgnc.symbol:GPER1 semapv:UnspecifiedMatching OMIM:601805 GPER1 skos:exactMatch ncbigene:2852 semapv:UnspecifiedMatching -OMIM:601806 MCM6 skos:exactMatch hgnc:MCM6 semapv:UnspecifiedMatching +OMIM:601806 MCM6 skos:exactMatch hgnc.symbol:6949 semapv:UnspecifiedMatching +OMIM:601806 MCM6 skos:exactMatch hgnc.symbol:MCM6 semapv:UnspecifiedMatching OMIM:601806 MCM6 skos:exactMatch ncbigene:4175 semapv:UnspecifiedMatching -OMIM:601807 MMP19 skos:exactMatch hgnc:MMP19 semapv:UnspecifiedMatching +OMIM:601807 MMP19 skos:exactMatch hgnc.symbol:7165 semapv:UnspecifiedMatching +OMIM:601807 MMP19 skos:exactMatch hgnc.symbol:MMP19 semapv:UnspecifiedMatching OMIM:601807 MMP19 skos:exactMatch ncbigene:4327 semapv:UnspecifiedMatching -OMIM:601810 DNA2 skos:exactMatch hgnc:DNA2 semapv:UnspecifiedMatching +OMIM:601810 DNA2 skos:exactMatch hgnc.symbol:2939 semapv:UnspecifiedMatching +OMIM:601810 DNA2 skos:exactMatch hgnc.symbol:DNA2 semapv:UnspecifiedMatching OMIM:601810 DNA2 skos:exactMatch ncbigene:1763 semapv:UnspecifiedMatching +OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch Orphanet:891 semapv:UnspecifiedMatching OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch UMLS:C1866176 semapv:UnspecifiedMatching -OMIM:601813 exudative vitreoretinopathy 4 skos:exactMatch orphanet.ordo:891 semapv:UnspecifiedMatching -OMIM:601814 FXYD2 skos:exactMatch hgnc:FXYD2 semapv:UnspecifiedMatching +OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:4026 semapv:UnspecifiedMatching +OMIM:601814 FXYD2 skos:exactMatch hgnc.symbol:FXYD2 semapv:UnspecifiedMatching OMIM:601814 FXYD2 skos:exactMatch ncbigene:486 semapv:UnspecifiedMatching +OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch Orphanet:79351 semapv:UnspecifiedMatching OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching -OMIM:601815 phosphoglycerate dehydrogenase deficiency skos:exactMatch orphanet.ordo:79351 semapv:UnspecifiedMatching OMIM:601817 NME3 skos:exactMatch UMLS:C1417742 semapv:UnspecifiedMatching OMIM:601817 NME3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:601817 NME3 skos:exactMatch hgnc:NME3 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch hgnc.symbol:7851 semapv:UnspecifiedMatching +OMIM:601817 NME3 skos:exactMatch hgnc.symbol:NME3 semapv:UnspecifiedMatching OMIM:601817 NME3 skos:exactMatch ncbigene:4832 semapv:UnspecifiedMatching -OMIM:601818 NME4 skos:exactMatch hgnc:NME4 semapv:UnspecifiedMatching +OMIM:601818 NME4 skos:exactMatch hgnc.symbol:7852 semapv:UnspecifiedMatching +OMIM:601818 NME4 skos:exactMatch hgnc.symbol:NME4 semapv:UnspecifiedMatching OMIM:601818 NME4 skos:exactMatch ncbigene:4833 semapv:UnspecifiedMatching -OMIM:601819 BPTF skos:exactMatch hgnc:BPTF semapv:UnspecifiedMatching +OMIM:601819 BPTF skos:exactMatch hgnc.symbol:3581 semapv:UnspecifiedMatching +OMIM:601819 BPTF skos:exactMatch hgnc.symbol:BPTF semapv:UnspecifiedMatching OMIM:601819 BPTF skos:exactMatch ncbigene:2186 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276580 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:276603 semapv:UnspecifiedMatching +OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch Orphanet:79644 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C0027773 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C2931833 semapv:UnspecifiedMatching OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch UMLS:C3888018 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch orphanet.ordo:276580 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch orphanet.ordo:276603 semapv:UnspecifiedMatching -OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch orphanet.ordo:79644 semapv:UnspecifiedMatching -OMIM:601821 RNY1 skos:exactMatch hgnc:RNY1 semapv:UnspecifiedMatching +OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:10242 semapv:UnspecifiedMatching +OMIM:601821 RNY1 skos:exactMatch hgnc.symbol:RNY1 semapv:UnspecifiedMatching OMIM:601821 RNY1 skos:exactMatch ncbigene:6084 semapv:UnspecifiedMatching OMIM:601822 RNY3 skos:exactMatch UMLS:C1419590 semapv:UnspecifiedMatching -OMIM:601822 RNY3 skos:exactMatch hgnc:RNY3 semapv:UnspecifiedMatching +OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:10243 semapv:UnspecifiedMatching +OMIM:601822 RNY3 skos:exactMatch hgnc.symbol:RNY3 semapv:UnspecifiedMatching OMIM:601822 RNY3 skos:exactMatch ncbigene:6085 semapv:UnspecifiedMatching -OMIM:601823 RNY4 skos:exactMatch hgnc:RNY4 semapv:UnspecifiedMatching +OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:10244 semapv:UnspecifiedMatching +OMIM:601823 RNY4 skos:exactMatch hgnc.symbol:RNY4 semapv:UnspecifiedMatching OMIM:601823 RNY4 skos:exactMatch ncbigene:6086 semapv:UnspecifiedMatching -OMIM:601824 RNY5 skos:exactMatch hgnc:RNY5 semapv:UnspecifiedMatching +OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:10248 semapv:UnspecifiedMatching +OMIM:601824 RNY5 skos:exactMatch hgnc.symbol:RNY5 semapv:UnspecifiedMatching OMIM:601824 RNY5 skos:exactMatch ncbigene:6090 semapv:UnspecifiedMatching -OMIM:601825 NDUFS7 skos:exactMatch hgnc:NDUFS7 semapv:UnspecifiedMatching +OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:7714 semapv:UnspecifiedMatching +OMIM:601825 NDUFS7 skos:exactMatch hgnc.symbol:NDUFS7 semapv:UnspecifiedMatching OMIM:601825 NDUFS7 skos:exactMatch ncbigene:374291 semapv:UnspecifiedMatching -OMIM:601826 DGKD skos:exactMatch hgnc:DGKD semapv:UnspecifiedMatching +OMIM:601826 DGKD skos:exactMatch hgnc.symbol:2851 semapv:UnspecifiedMatching +OMIM:601826 DGKD skos:exactMatch hgnc.symbol:DGKD semapv:UnspecifiedMatching OMIM:601826 DGKD skos:exactMatch ncbigene:8527 semapv:UnspecifiedMatching -OMIM:601828 NR4A2 skos:exactMatch hgnc:NR4A2 semapv:UnspecifiedMatching +OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:7981 semapv:UnspecifiedMatching +OMIM:601828 NR4A2 skos:exactMatch hgnc.symbol:NR4A2 semapv:UnspecifiedMatching OMIM:601828 NR4A2 skos:exactMatch ncbigene:4929 semapv:UnspecifiedMatching -OMIM:601831 HIST2H2BE skos:exactMatch hgnc:H2BC21 semapv:UnspecifiedMatching +OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:4760 semapv:UnspecifiedMatching +OMIM:601831 HIST2H2BE skos:exactMatch hgnc.symbol:H2BC21 semapv:UnspecifiedMatching OMIM:601831 HIST2H2BE skos:exactMatch ncbigene:8349 semapv:UnspecifiedMatching -OMIM:601832 RPL29 skos:exactMatch hgnc:RPL29 semapv:UnspecifiedMatching +OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:10331 semapv:UnspecifiedMatching +OMIM:601832 RPL29 skos:exactMatch hgnc.symbol:RPL29 semapv:UnspecifiedMatching OMIM:601832 RPL29 skos:exactMatch ncbigene:6159 semapv:UnspecifiedMatching -OMIM:601833 AIF1 skos:exactMatch hgnc:AIF1 semapv:UnspecifiedMatching +OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:352 semapv:UnspecifiedMatching +OMIM:601833 AIF1 skos:exactMatch hgnc.symbol:AIF1 semapv:UnspecifiedMatching OMIM:601833 AIF1 skos:exactMatch ncbigene:199 semapv:UnspecifiedMatching -OMIM:601834 CCR8 skos:exactMatch hgnc:CCR8 semapv:UnspecifiedMatching +OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:1609 semapv:UnspecifiedMatching +OMIM:601834 CCR8 skos:exactMatch hgnc.symbol:CCR8 semapv:UnspecifiedMatching OMIM:601834 CCR8 skos:exactMatch ncbigene:1237 semapv:UnspecifiedMatching -OMIM:601835 CCR6 skos:exactMatch hgnc:CCR6 semapv:UnspecifiedMatching +OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:1607 semapv:UnspecifiedMatching +OMIM:601835 CCR6 skos:exactMatch hgnc.symbol:CCR6 semapv:UnspecifiedMatching OMIM:601835 CCR6 skos:exactMatch ncbigene:1235 semapv:UnspecifiedMatching -OMIM:601836 KIFAP3 skos:exactMatch hgnc:KIFAP3 semapv:UnspecifiedMatching +OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:17060 semapv:UnspecifiedMatching +OMIM:601836 KIFAP3 skos:exactMatch hgnc.symbol:KIFAP3 semapv:UnspecifiedMatching OMIM:601836 KIFAP3 skos:exactMatch ncbigene:22920 semapv:UnspecifiedMatching -OMIM:601837 LIG4 skos:exactMatch hgnc:LIG4 semapv:UnspecifiedMatching +OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:6601 semapv:UnspecifiedMatching +OMIM:601837 LIG4 skos:exactMatch hgnc.symbol:LIG4 semapv:UnspecifiedMatching OMIM:601837 LIG4 skos:exactMatch ncbigene:3981 semapv:UnspecifiedMatching -OMIM:601838 ITPK1 skos:exactMatch hgnc:ITPK1 semapv:UnspecifiedMatching +OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:6177 semapv:UnspecifiedMatching +OMIM:601838 ITPK1 skos:exactMatch hgnc.symbol:ITPK1 semapv:UnspecifiedMatching OMIM:601838 ITPK1 skos:exactMatch ncbigene:3705 semapv:UnspecifiedMatching -OMIM:601839 EPHB3 skos:exactMatch hgnc:EPHB3 semapv:UnspecifiedMatching +OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:3394 semapv:UnspecifiedMatching +OMIM:601839 EPHB3 skos:exactMatch hgnc.symbol:EPHB3 semapv:UnspecifiedMatching OMIM:601839 EPHB3 skos:exactMatch ncbigene:2049 semapv:UnspecifiedMatching -OMIM:601841 SERPINA5 skos:exactMatch hgnc:SERPINA5 semapv:UnspecifiedMatching +OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:8723 semapv:UnspecifiedMatching +OMIM:601841 SERPINA5 skos:exactMatch hgnc.symbol:SERPINA5 semapv:UnspecifiedMatching OMIM:601841 SERPINA5 skos:exactMatch ncbigene:5104 semapv:UnspecifiedMatching -OMIM:601843 SLC5A5 skos:exactMatch hgnc:SLC5A5 semapv:UnspecifiedMatching +OMIM:601843 SLC5A5 skos:exactMatch hgnc.symbol:11040 semapv:UnspecifiedMatching +OMIM:601843 SLC5A5 skos:exactMatch hgnc.symbol:SLC5A5 semapv:UnspecifiedMatching OMIM:601843 SLC5A5 skos:exactMatch ncbigene:6528 semapv:UnspecifiedMatching -OMIM:601844 WNK4 skos:exactMatch hgnc:WNK4 semapv:UnspecifiedMatching +OMIM:601844 WNK4 skos:exactMatch hgnc.symbol:14544 semapv:UnspecifiedMatching +OMIM:601844 WNK4 skos:exactMatch hgnc.symbol:WNK4 semapv:UnspecifiedMatching OMIM:601844 WNK4 skos:exactMatch ncbigene:65266 semapv:UnspecifiedMatching -OMIM:601845 GSC2 skos:exactMatch hgnc:GSC2 semapv:UnspecifiedMatching +OMIM:601845 GSC2 skos:exactMatch hgnc.symbol:4613 semapv:UnspecifiedMatching +OMIM:601845 GSC2 skos:exactMatch hgnc.symbol:GSC2 semapv:UnspecifiedMatching OMIM:601845 GSC2 skos:exactMatch ncbigene:2928 semapv:UnspecifiedMatching OMIM:601846 myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant skos:exactMatch UMLS:C1866139 semapv:UnspecifiedMatching +OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:172 semapv:UnspecifiedMatching +OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch Orphanet:79304 semapv:UnspecifiedMatching OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch UMLS:C3489789 semapv:UnspecifiedMatching -OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch orphanet.ordo:172 semapv:UnspecifiedMatching -OMIM:601847 cholestasis, progressive familial intrahepatic, 2 skos:exactMatch orphanet.ordo:79304 semapv:UnspecifiedMatching OMIM:601848 TOMM20 skos:exactMatch UMLS:C1427202 semapv:UnspecifiedMatching -OMIM:601848 TOMM20 skos:exactMatch hgnc:TOMM20 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:20947 semapv:UnspecifiedMatching +OMIM:601848 TOMM20 skos:exactMatch hgnc.symbol:TOMM20 semapv:UnspecifiedMatching OMIM:601848 TOMM20 skos:exactMatch ncbigene:9804 semapv:UnspecifiedMatching -OMIM:601851 CLOCK skos:exactMatch hgnc:CLOCK semapv:UnspecifiedMatching +OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:2082 semapv:UnspecifiedMatching +OMIM:601851 CLOCK skos:exactMatch hgnc.symbol:CLOCK semapv:UnspecifiedMatching OMIM:601851 CLOCK skos:exactMatch ncbigene:9575 semapv:UnspecifiedMatching -OMIM:601852 ICAM5 skos:exactMatch hgnc:ICAM5 semapv:UnspecifiedMatching +OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:5348 semapv:UnspecifiedMatching +OMIM:601852 ICAM5 skos:exactMatch hgnc.symbol:ICAM5 semapv:UnspecifiedMatching OMIM:601852 ICAM5 skos:exactMatch ncbigene:7087 semapv:UnspecifiedMatching +OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch Orphanet:1532 semapv:UnspecifiedMatching OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch UMLS:C0795959 semapv:UnspecifiedMatching -OMIM:601853 gomez-lopez-hernandez syndrome skos:exactMatch orphanet.ordo:1532 semapv:UnspecifiedMatching -OMIM:601854 DGKG skos:exactMatch hgnc:DGKG semapv:UnspecifiedMatching +OMIM:601854 DGKG skos:exactMatch hgnc.symbol:2853 semapv:UnspecifiedMatching +OMIM:601854 DGKG skos:exactMatch hgnc.symbol:DGKG semapv:UnspecifiedMatching OMIM:601854 DGKG skos:exactMatch ncbigene:1608 semapv:UnspecifiedMatching -OMIM:601855 ARHGEF1 skos:exactMatch hgnc:ARHGEF1 semapv:UnspecifiedMatching +OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:681 semapv:UnspecifiedMatching +OMIM:601855 ARHGEF1 skos:exactMatch hgnc.symbol:ARHGEF1 semapv:UnspecifiedMatching OMIM:601855 ARHGEF1 skos:exactMatch ncbigene:9138 semapv:UnspecifiedMatching -OMIM:601856 ZNF211 skos:exactMatch hgnc:ZNF211 semapv:UnspecifiedMatching +OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:13003 semapv:UnspecifiedMatching +OMIM:601856 ZNF211 skos:exactMatch hgnc.symbol:ZNF211 semapv:UnspecifiedMatching OMIM:601856 ZNF211 skos:exactMatch ncbigene:10520 semapv:UnspecifiedMatching -OMIM:601858 CLGN skos:exactMatch hgnc:CLGN semapv:UnspecifiedMatching +OMIM:601858 CLGN skos:exactMatch hgnc.symbol:2060 semapv:UnspecifiedMatching +OMIM:601858 CLGN skos:exactMatch hgnc.symbol:CLGN semapv:UnspecifiedMatching OMIM:601858 CLGN skos:exactMatch ncbigene:1047 semapv:UnspecifiedMatching -OMIM:601860 HSD17B4 skos:exactMatch hgnc:HSD17B4 semapv:UnspecifiedMatching +OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:5213 semapv:UnspecifiedMatching +OMIM:601860 HSD17B4 skos:exactMatch hgnc.symbol:HSD17B4 semapv:UnspecifiedMatching OMIM:601860 HSD17B4 skos:exactMatch ncbigene:3295 semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch UMLS:C1419365 semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch UMLS:C1859537 semapv:UnspecifiedMatching -OMIM:601861 RFXAP skos:exactMatch hgnc:RFXAP semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:9988 semapv:UnspecifiedMatching +OMIM:601861 RFXAP skos:exactMatch hgnc.symbol:RFXAP semapv:UnspecifiedMatching OMIM:601861 RFXAP skos:exactMatch ncbigene:5994 semapv:UnspecifiedMatching -OMIM:601863 RFX5 skos:exactMatch hgnc:RFX5 semapv:UnspecifiedMatching +OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:9986 semapv:UnspecifiedMatching +OMIM:601863 RFX5 skos:exactMatch hgnc.symbol:RFX5 semapv:UnspecifiedMatching OMIM:601863 RFX5 skos:exactMatch ncbigene:5993 semapv:UnspecifiedMatching -OMIM:601865 PLOD2 skos:exactMatch hgnc:PLOD2 semapv:UnspecifiedMatching +OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:9082 semapv:UnspecifiedMatching +OMIM:601865 PLOD2 skos:exactMatch hgnc.symbol:PLOD2 semapv:UnspecifiedMatching OMIM:601865 PLOD2 skos:exactMatch ncbigene:5352 semapv:UnspecifiedMatching -OMIM:601866 SEMA4D skos:exactMatch hgnc:SEMA4D semapv:UnspecifiedMatching +OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:10732 semapv:UnspecifiedMatching +OMIM:601866 SEMA4D skos:exactMatch hgnc.symbol:SEMA4D semapv:UnspecifiedMatching OMIM:601866 SEMA4D skos:exactMatch ncbigene:10507 semapv:UnspecifiedMatching -OMIM:601867 ATP1B3 skos:exactMatch hgnc:ATP1B3 semapv:UnspecifiedMatching +OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:806 semapv:UnspecifiedMatching +OMIM:601867 ATP1B3 skos:exactMatch hgnc.symbol:ATP1B3 semapv:UnspecifiedMatching OMIM:601867 ATP1B3 skos:exactMatch ncbigene:483 semapv:UnspecifiedMatching -OMIM:601870 METAP2 skos:exactMatch hgnc:METAP2 semapv:UnspecifiedMatching +OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:16672 semapv:UnspecifiedMatching +OMIM:601870 METAP2 skos:exactMatch hgnc.symbol:METAP2 semapv:UnspecifiedMatching OMIM:601870 METAP2 skos:exactMatch ncbigene:10988 semapv:UnspecifiedMatching -OMIM:601871 CSRP2 skos:exactMatch hgnc:CSRP2 semapv:UnspecifiedMatching +OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:2470 semapv:UnspecifiedMatching +OMIM:601871 CSRP2 skos:exactMatch hgnc.symbol:CSRP2 semapv:UnspecifiedMatching OMIM:601871 CSRP2 skos:exactMatch ncbigene:1466 semapv:UnspecifiedMatching -OMIM:601872 SLC7A2 skos:exactMatch hgnc:SLC7A2 semapv:UnspecifiedMatching +OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:11060 semapv:UnspecifiedMatching +OMIM:601872 SLC7A2 skos:exactMatch hgnc.symbol:SLC7A2 semapv:UnspecifiedMatching OMIM:601872 SLC7A2 skos:exactMatch ncbigene:6542 semapv:UnspecifiedMatching -OMIM:601873 B4GALNT1 skos:exactMatch hgnc:B4GALNT1 semapv:UnspecifiedMatching +OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:4117 semapv:UnspecifiedMatching +OMIM:601873 B4GALNT1 skos:exactMatch hgnc.symbol:B4GALNT1 semapv:UnspecifiedMatching OMIM:601873 B4GALNT1 skos:exactMatch ncbigene:2583 semapv:UnspecifiedMatching -OMIM:601874 ELL2 skos:exactMatch hgnc:ELL2 semapv:UnspecifiedMatching +OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:17064 semapv:UnspecifiedMatching +OMIM:601874 ELL2 skos:exactMatch hgnc.symbol:ELL2 semapv:UnspecifiedMatching OMIM:601874 ELL2 skos:exactMatch ncbigene:22936 semapv:UnspecifiedMatching OMIM:601877 LEFTY2 skos:exactMatch UMLS:C1537561 semapv:UnspecifiedMatching OMIM:601877 LEFTY2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:601877 LEFTY2 skos:exactMatch hgnc:LEFTY2 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:3122 semapv:UnspecifiedMatching +OMIM:601877 LEFTY2 skos:exactMatch hgnc.symbol:LEFTY2 semapv:UnspecifiedMatching OMIM:601877 LEFTY2 skos:exactMatch ncbigene:7044 semapv:UnspecifiedMatching -OMIM:601878 KLF10 skos:exactMatch hgnc:KLF10 semapv:UnspecifiedMatching +OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:11810 semapv:UnspecifiedMatching +OMIM:601878 KLF10 skos:exactMatch hgnc.symbol:KLF10 semapv:UnspecifiedMatching OMIM:601878 KLF10 skos:exactMatch ncbigene:7071 semapv:UnspecifiedMatching -OMIM:601879 LGALS9 skos:exactMatch hgnc:LGALS9 semapv:UnspecifiedMatching +OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:6570 semapv:UnspecifiedMatching +OMIM:601879 LGALS9 skos:exactMatch hgnc.symbol:LGALS9 semapv:UnspecifiedMatching OMIM:601879 LGALS9 skos:exactMatch ncbigene:3965 semapv:UnspecifiedMatching -OMIM:601880 CX3CL1 skos:exactMatch hgnc:CX3CL1 semapv:UnspecifiedMatching +OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:10647 semapv:UnspecifiedMatching +OMIM:601880 CX3CL1 skos:exactMatch hgnc.symbol:CX3CL1 semapv:UnspecifiedMatching OMIM:601880 CX3CL1 skos:exactMatch ncbigene:6376 semapv:UnspecifiedMatching -OMIM:601881 RAX skos:exactMatch hgnc:RAX semapv:UnspecifiedMatching +OMIM:601881 RAX skos:exactMatch hgnc.symbol:18662 semapv:UnspecifiedMatching +OMIM:601881 RAX skos:exactMatch hgnc.symbol:RAX semapv:UnspecifiedMatching OMIM:601881 RAX skos:exactMatch ncbigene:30062 semapv:UnspecifiedMatching -OMIM:601882 DFFA skos:exactMatch hgnc:DFFA semapv:UnspecifiedMatching +OMIM:601882 DFFA skos:exactMatch hgnc.symbol:2772 semapv:UnspecifiedMatching +OMIM:601882 DFFA skos:exactMatch hgnc.symbol:DFFA semapv:UnspecifiedMatching OMIM:601882 DFFA skos:exactMatch ncbigene:1676 semapv:UnspecifiedMatching -OMIM:601883 DFFB skos:exactMatch hgnc:DFFB semapv:UnspecifiedMatching +OMIM:601883 DFFB skos:exactMatch hgnc.symbol:2773 semapv:UnspecifiedMatching +OMIM:601883 DFFB skos:exactMatch hgnc.symbol:DFFB semapv:UnspecifiedMatching OMIM:601883 DFFB skos:exactMatch ncbigene:1677 semapv:UnspecifiedMatching +OMIM:601885 cataract 14, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:601885 cataract 14, multiple types skos:exactMatch UMLS:C1866078 semapv:UnspecifiedMatching -OMIM:601885 cataract 14, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:601886 ASCL2 skos:exactMatch hgnc:ASCL2 semapv:UnspecifiedMatching +OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:739 semapv:UnspecifiedMatching +OMIM:601886 ASCL2 skos:exactMatch hgnc.symbol:ASCL2 semapv:UnspecifiedMatching OMIM:601886 ASCL2 skos:exactMatch ncbigene:430 semapv:UnspecifiedMatching +OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch UMLS:C1866077 semapv:UnspecifiedMatching -OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch orphanet.ordo:423 semapv:UnspecifiedMatching -OMIM:601889 NBEAP1 skos:exactMatch hgnc:NBEAP1 semapv:UnspecifiedMatching +OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:1007 semapv:UnspecifiedMatching +OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:NBEAP1 semapv:UnspecifiedMatching OMIM:601889 NBEAP1 skos:exactMatch ncbigene:606 semapv:UnspecifiedMatching -OMIM:601890 PTK7 skos:exactMatch hgnc:PTK7 semapv:UnspecifiedMatching +OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:9618 semapv:UnspecifiedMatching +OMIM:601890 PTK7 skos:exactMatch hgnc.symbol:PTK7 semapv:UnspecifiedMatching OMIM:601890 PTK7 skos:exactMatch ncbigene:5754 semapv:UnspecifiedMatching -OMIM:601891 CST6 skos:exactMatch hgnc:CST6 semapv:UnspecifiedMatching +OMIM:601891 CST6 skos:exactMatch hgnc.symbol:2478 semapv:UnspecifiedMatching +OMIM:601891 CST6 skos:exactMatch hgnc.symbol:CST6 semapv:UnspecifiedMatching OMIM:601891 CST6 skos:exactMatch ncbigene:1474 semapv:UnspecifiedMatching -OMIM:601892 KPNA3 skos:exactMatch hgnc:KPNA3 semapv:UnspecifiedMatching +OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:6396 semapv:UnspecifiedMatching +OMIM:601892 KPNA3 skos:exactMatch hgnc.symbol:KPNA3 semapv:UnspecifiedMatching OMIM:601892 KPNA3 skos:exactMatch ncbigene:3839 semapv:UnspecifiedMatching OMIM:601893 TRIO skos:exactMatch UMLS:C1336674 semapv:UnspecifiedMatching OMIM:601893 TRIO skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching OMIM:601893 TRIO skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching -OMIM:601893 TRIO skos:exactMatch hgnc:TRIO semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch hgnc.symbol:12303 semapv:UnspecifiedMatching +OMIM:601893 TRIO skos:exactMatch hgnc.symbol:TRIO semapv:UnspecifiedMatching OMIM:601893 TRIO skos:exactMatch ncbigene:7204 semapv:UnspecifiedMatching -OMIM:601895 TRAF2 skos:exactMatch hgnc:TRAF2 semapv:UnspecifiedMatching +OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:12032 semapv:UnspecifiedMatching +OMIM:601895 TRAF2 skos:exactMatch hgnc.symbol:TRAF2 semapv:UnspecifiedMatching OMIM:601895 TRAF2 skos:exactMatch ncbigene:7186 semapv:UnspecifiedMatching -OMIM:601896 TRAF3 skos:exactMatch hgnc:TRAF3 semapv:UnspecifiedMatching +OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:12033 semapv:UnspecifiedMatching +OMIM:601896 TRAF3 skos:exactMatch hgnc.symbol:TRAF3 semapv:UnspecifiedMatching OMIM:601896 TRAF3 skos:exactMatch ncbigene:7187 semapv:UnspecifiedMatching -OMIM:601897 ZNF148 skos:exactMatch hgnc:ZNF148 semapv:UnspecifiedMatching +OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:12933 semapv:UnspecifiedMatching +OMIM:601897 ZNF148 skos:exactMatch hgnc.symbol:ZNF148 semapv:UnspecifiedMatching OMIM:601897 ZNF148 skos:exactMatch ncbigene:7707 semapv:UnspecifiedMatching -OMIM:601898 GHSR skos:exactMatch hgnc:GHSR semapv:UnspecifiedMatching +OMIM:601898 GHSR skos:exactMatch hgnc.symbol:4267 semapv:UnspecifiedMatching +OMIM:601898 GHSR skos:exactMatch hgnc.symbol:GHSR semapv:UnspecifiedMatching OMIM:601898 GHSR skos:exactMatch ncbigene:2693 semapv:UnspecifiedMatching -OMIM:601899 STAM skos:exactMatch hgnc:STAM semapv:UnspecifiedMatching +OMIM:601899 STAM skos:exactMatch hgnc.symbol:11357 semapv:UnspecifiedMatching +OMIM:601899 STAM skos:exactMatch hgnc.symbol:STAM semapv:UnspecifiedMatching OMIM:601899 STAM skos:exactMatch ncbigene:8027 semapv:UnspecifiedMatching -OMIM:601900 IRF4 skos:exactMatch hgnc:IRF4 semapv:UnspecifiedMatching +OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:6119 semapv:UnspecifiedMatching +OMIM:601900 IRF4 skos:exactMatch hgnc.symbol:IRF4 semapv:UnspecifiedMatching OMIM:601900 IRF4 skos:exactMatch ncbigene:3662 semapv:UnspecifiedMatching -OMIM:601901 SLC8A2 skos:exactMatch hgnc:SLC8A2 semapv:UnspecifiedMatching +OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:11069 semapv:UnspecifiedMatching +OMIM:601901 SLC8A2 skos:exactMatch hgnc.symbol:SLC8A2 semapv:UnspecifiedMatching OMIM:601901 SLC8A2 skos:exactMatch ncbigene:6543 semapv:UnspecifiedMatching -OMIM:601902 ORC1 skos:exactMatch hgnc:ORC1 semapv:UnspecifiedMatching +OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:8487 semapv:UnspecifiedMatching +OMIM:601902 ORC1 skos:exactMatch hgnc.symbol:ORC1 semapv:UnspecifiedMatching OMIM:601902 ORC1 skos:exactMatch ncbigene:4998 semapv:UnspecifiedMatching -OMIM:601903 UGT2B17 skos:exactMatch hgnc:UGT2B17 semapv:UnspecifiedMatching +OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:12547 semapv:UnspecifiedMatching +OMIM:601903 UGT2B17 skos:exactMatch hgnc.symbol:UGT2B17 semapv:UnspecifiedMatching OMIM:601903 UGT2B17 skos:exactMatch ncbigene:7367 semapv:UnspecifiedMatching -OMIM:601905 RABGGTA skos:exactMatch hgnc:RABGGTA semapv:UnspecifiedMatching +OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:9795 semapv:UnspecifiedMatching +OMIM:601905 RABGGTA skos:exactMatch hgnc.symbol:RABGGTA semapv:UnspecifiedMatching OMIM:601905 RABGGTA skos:exactMatch ncbigene:5875 semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch UMLS:C1421511 semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch UMLS:C2749665 semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch UMLS:C4310730 semapv:UnspecifiedMatching -OMIM:601906 WNT10B skos:exactMatch hgnc:WNT10B semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:12775 semapv:UnspecifiedMatching +OMIM:601906 WNT10B skos:exactMatch hgnc.symbol:WNT10B semapv:UnspecifiedMatching OMIM:601906 WNT10B skos:exactMatch ncbigene:7480 semapv:UnspecifiedMatching -OMIM:601907 NEO1 skos:exactMatch hgnc:NEO1 semapv:UnspecifiedMatching +OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:7754 semapv:UnspecifiedMatching +OMIM:601907 NEO1 skos:exactMatch hgnc.symbol:NEO1 semapv:UnspecifiedMatching OMIM:601907 NEO1 skos:exactMatch ncbigene:4756 semapv:UnspecifiedMatching -OMIM:601908 GPR20 skos:exactMatch hgnc:GPR20 semapv:UnspecifiedMatching +OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:4475 semapv:UnspecifiedMatching +OMIM:601908 GPR20 skos:exactMatch hgnc.symbol:GPR20 semapv:UnspecifiedMatching OMIM:601908 GPR20 skos:exactMatch ncbigene:2843 semapv:UnspecifiedMatching -OMIM:601909 GPR21 skos:exactMatch hgnc:GPR21 semapv:UnspecifiedMatching +OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:4476 semapv:UnspecifiedMatching +OMIM:601909 GPR21 skos:exactMatch hgnc.symbol:GPR21 semapv:UnspecifiedMatching OMIM:601909 GPR21 skos:exactMatch ncbigene:2844 semapv:UnspecifiedMatching -OMIM:601910 GPR22 skos:exactMatch hgnc:GPR22 semapv:UnspecifiedMatching +OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:4477 semapv:UnspecifiedMatching +OMIM:601910 GPR22 skos:exactMatch hgnc.symbol:GPR22 semapv:UnspecifiedMatching OMIM:601910 GPR22 skos:exactMatch ncbigene:2845 semapv:UnspecifiedMatching -OMIM:601911 DLX4 skos:exactMatch hgnc:DLX4 semapv:UnspecifiedMatching +OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:2917 semapv:UnspecifiedMatching +OMIM:601911 DLX4 skos:exactMatch hgnc.symbol:DLX4 semapv:UnspecifiedMatching OMIM:601911 DLX4 skos:exactMatch ncbigene:1748 semapv:UnspecifiedMatching -OMIM:601912 SUMO1 skos:exactMatch hgnc:SUMO1 semapv:UnspecifiedMatching +OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:12502 semapv:UnspecifiedMatching +OMIM:601912 SUMO1 skos:exactMatch hgnc.symbol:SUMO1 semapv:UnspecifiedMatching OMIM:601912 SUMO1 skos:exactMatch ncbigene:7341 semapv:UnspecifiedMatching -OMIM:601913 GET3 skos:exactMatch hgnc:GET3 semapv:UnspecifiedMatching +OMIM:601913 GET3 skos:exactMatch hgnc.symbol:752 semapv:UnspecifiedMatching +OMIM:601913 GET3 skos:exactMatch hgnc.symbol:GET3 semapv:UnspecifiedMatching OMIM:601913 GET3 skos:exactMatch ncbigene:439 semapv:UnspecifiedMatching -OMIM:601914 PRELP skos:exactMatch hgnc:PRELP semapv:UnspecifiedMatching +OMIM:601914 PRELP skos:exactMatch hgnc.symbol:9357 semapv:UnspecifiedMatching +OMIM:601914 PRELP skos:exactMatch hgnc.symbol:PRELP semapv:UnspecifiedMatching OMIM:601914 PRELP skos:exactMatch ncbigene:5549 semapv:UnspecifiedMatching -OMIM:601915 TIMP4 skos:exactMatch hgnc:TIMP4 semapv:UnspecifiedMatching +OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:11823 semapv:UnspecifiedMatching +OMIM:601915 TIMP4 skos:exactMatch hgnc.symbol:TIMP4 semapv:UnspecifiedMatching OMIM:601915 TIMP4 skos:exactMatch ncbigene:7079 semapv:UnspecifiedMatching -OMIM:601916 MANF skos:exactMatch hgnc:MANF semapv:UnspecifiedMatching +OMIM:601916 MANF skos:exactMatch hgnc.symbol:15461 semapv:UnspecifiedMatching +OMIM:601916 MANF skos:exactMatch hgnc.symbol:MANF semapv:UnspecifiedMatching OMIM:601916 MANF skos:exactMatch ncbigene:7873 semapv:UnspecifiedMatching -OMIM:601917 ALDH3B2 skos:exactMatch hgnc:ALDH3B2 semapv:UnspecifiedMatching +OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:411 semapv:UnspecifiedMatching +OMIM:601917 ALDH3B2 skos:exactMatch hgnc.symbol:ALDH3B2 semapv:UnspecifiedMatching OMIM:601917 ALDH3B2 skos:exactMatch ncbigene:222 semapv:UnspecifiedMatching -OMIM:601918 GDF9 skos:exactMatch hgnc:GDF9 semapv:UnspecifiedMatching +OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:4224 semapv:UnspecifiedMatching +OMIM:601918 GDF9 skos:exactMatch hgnc.symbol:GDF9 semapv:UnspecifiedMatching OMIM:601918 GDF9 skos:exactMatch ncbigene:2661 semapv:UnspecifiedMatching -OMIM:601919 F2RL2 skos:exactMatch hgnc:F2RL2 semapv:UnspecifiedMatching +OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:3539 semapv:UnspecifiedMatching +OMIM:601919 F2RL2 skos:exactMatch hgnc.symbol:F2RL2 semapv:UnspecifiedMatching OMIM:601919 F2RL2 skos:exactMatch ncbigene:2151 semapv:UnspecifiedMatching -OMIM:601920 JAG1 skos:exactMatch hgnc:JAG1 semapv:UnspecifiedMatching +OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:6188 semapv:UnspecifiedMatching +OMIM:601920 JAG1 skos:exactMatch hgnc.symbol:JAG1 semapv:UnspecifiedMatching OMIM:601920 JAG1 skos:exactMatch ncbigene:182 semapv:UnspecifiedMatching -OMIM:601922 ANGPT2 skos:exactMatch hgnc:ANGPT2 semapv:UnspecifiedMatching +OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:485 semapv:UnspecifiedMatching +OMIM:601922 ANGPT2 skos:exactMatch hgnc.symbol:ANGPT2 semapv:UnspecifiedMatching OMIM:601922 ANGPT2 skos:exactMatch ncbigene:285 semapv:UnspecifiedMatching -OMIM:601924 COPA skos:exactMatch hgnc:COPA semapv:UnspecifiedMatching +OMIM:601924 COPA skos:exactMatch hgnc.symbol:2230 semapv:UnspecifiedMatching +OMIM:601924 COPA skos:exactMatch hgnc.symbol:COPA semapv:UnspecifiedMatching OMIM:601924 COPA skos:exactMatch ncbigene:1314 semapv:UnspecifiedMatching -OMIM:601925 ARHGDIA skos:exactMatch hgnc:ARHGDIA semapv:UnspecifiedMatching +OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:678 semapv:UnspecifiedMatching +OMIM:601925 ARHGDIA skos:exactMatch hgnc.symbol:ARHGDIA semapv:UnspecifiedMatching OMIM:601925 ARHGDIA skos:exactMatch ncbigene:396 semapv:UnspecifiedMatching OMIM:601926 THRSP skos:exactMatch UMLS:C1420727 semapv:UnspecifiedMatching -OMIM:601926 THRSP skos:exactMatch hgnc:THRSP semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch hgnc.symbol:11800 semapv:UnspecifiedMatching +OMIM:601926 THRSP skos:exactMatch hgnc.symbol:THRSP semapv:UnspecifiedMatching OMIM:601926 THRSP skos:exactMatch ncbigene:7069 semapv:UnspecifiedMatching +OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch Orphanet:86915 semapv:UnspecifiedMatching OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch UMLS:C2677167 semapv:UnspecifiedMatching -OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies skos:exactMatch orphanet.ordo:86915 semapv:UnspecifiedMatching -OMIM:601928 KRT86 skos:exactMatch hgnc:KRT86 semapv:UnspecifiedMatching +OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:6463 semapv:UnspecifiedMatching +OMIM:601928 KRT86 skos:exactMatch hgnc.symbol:KRT86 semapv:UnspecifiedMatching OMIM:601928 KRT86 skos:exactMatch ncbigene:3892 semapv:UnspecifiedMatching -OMIM:601929 ATP2A3 skos:exactMatch hgnc:ATP2A3 semapv:UnspecifiedMatching +OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:813 semapv:UnspecifiedMatching +OMIM:601929 ATP2A3 skos:exactMatch hgnc.symbol:ATP2A3 semapv:UnspecifiedMatching OMIM:601929 ATP2A3 skos:exactMatch ncbigene:489 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch UMLS:C1538957 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching -OMIM:601930 BNC1 skos:exactMatch hgnc:BNC1 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:1081 semapv:UnspecifiedMatching +OMIM:601930 BNC1 skos:exactMatch hgnc.symbol:BNC1 semapv:UnspecifiedMatching OMIM:601930 BNC1 skos:exactMatch ncbigene:646 semapv:UnspecifiedMatching -OMIM:601931 BCL2L2 skos:exactMatch hgnc:BCL2L2 semapv:UnspecifiedMatching +OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:995 semapv:UnspecifiedMatching +OMIM:601931 BCL2L2 skos:exactMatch hgnc.symbol:BCL2L2 semapv:UnspecifiedMatching OMIM:601931 BCL2L2 skos:exactMatch ncbigene:599 semapv:UnspecifiedMatching -OMIM:601932 MUC8 skos:exactMatch hgnc:MUC8 semapv:UnspecifiedMatching +OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:7519 semapv:UnspecifiedMatching +OMIM:601932 MUC8 skos:exactMatch hgnc.symbol:MUC8 semapv:UnspecifiedMatching OMIM:601932 MUC8 skos:exactMatch ncbigene:100129528 semapv:UnspecifiedMatching -OMIM:601933 CRY1 skos:exactMatch hgnc:CRY1 semapv:UnspecifiedMatching +OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:2384 semapv:UnspecifiedMatching +OMIM:601933 CRY1 skos:exactMatch hgnc.symbol:CRY1 semapv:UnspecifiedMatching OMIM:601933 CRY1 skos:exactMatch ncbigene:1407 semapv:UnspecifiedMatching -OMIM:601934 GPS1 skos:exactMatch hgnc:GPS1 semapv:UnspecifiedMatching +OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:4549 semapv:UnspecifiedMatching +OMIM:601934 GPS1 skos:exactMatch hgnc.symbol:GPS1 semapv:UnspecifiedMatching OMIM:601934 GPS1 skos:exactMatch ncbigene:2873 semapv:UnspecifiedMatching -OMIM:601935 GPS2 skos:exactMatch hgnc:GPS2 semapv:UnspecifiedMatching +OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:4550 semapv:UnspecifiedMatching +OMIM:601935 GPS2 skos:exactMatch hgnc.symbol:GPS2 semapv:UnspecifiedMatching OMIM:601935 GPS2 skos:exactMatch ncbigene:2874 semapv:UnspecifiedMatching -OMIM:601936 PAWR skos:exactMatch hgnc:PAWR semapv:UnspecifiedMatching +OMIM:601936 PAWR skos:exactMatch hgnc.symbol:8614 semapv:UnspecifiedMatching +OMIM:601936 PAWR skos:exactMatch hgnc.symbol:PAWR semapv:UnspecifiedMatching OMIM:601936 PAWR skos:exactMatch ncbigene:5074 semapv:UnspecifiedMatching -OMIM:601937 NCOA3 skos:exactMatch hgnc:NCOA3 semapv:UnspecifiedMatching +OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:7670 semapv:UnspecifiedMatching +OMIM:601937 NCOA3 skos:exactMatch hgnc.symbol:NCOA3 semapv:UnspecifiedMatching OMIM:601937 NCOA3 skos:exactMatch ncbigene:8202 semapv:UnspecifiedMatching -OMIM:601939 SRPK1 skos:exactMatch hgnc:SRPK1 semapv:UnspecifiedMatching +OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:11305 semapv:UnspecifiedMatching +OMIM:601939 SRPK1 skos:exactMatch hgnc.symbol:SRPK1 semapv:UnspecifiedMatching OMIM:601939 SRPK1 skos:exactMatch ncbigene:6732 semapv:UnspecifiedMatching -OMIM:601940 SRSF4 skos:exactMatch hgnc:SRSF4 semapv:UnspecifiedMatching +OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:10786 semapv:UnspecifiedMatching +OMIM:601940 SRSF4 skos:exactMatch hgnc.symbol:SRSF4 semapv:UnspecifiedMatching OMIM:601940 SRSF4 skos:exactMatch ncbigene:6429 semapv:UnspecifiedMatching OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching OMIM:601941 iia 1 diabetes mellitus 6 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching OMIM:601942 iia 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching -OMIM:601943 SRSF9 skos:exactMatch hgnc:SRSF9 semapv:UnspecifiedMatching +OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:10791 semapv:UnspecifiedMatching +OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:SRSF9 semapv:UnspecifiedMatching OMIM:601943 SRSF9 skos:exactMatch ncbigene:8683 semapv:UnspecifiedMatching -OMIM:601944 SRSF6 skos:exactMatch hgnc:SRSF6 semapv:UnspecifiedMatching +OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:10788 semapv:UnspecifiedMatching +OMIM:601944 SRSF6 skos:exactMatch hgnc.symbol:SRSF6 semapv:UnspecifiedMatching OMIM:601944 SRSF6 skos:exactMatch ncbigene:6431 semapv:UnspecifiedMatching -OMIM:601945 SFSWAP skos:exactMatch hgnc:SFSWAP semapv:UnspecifiedMatching +OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:10790 semapv:UnspecifiedMatching +OMIM:601945 SFSWAP skos:exactMatch hgnc.symbol:SFSWAP semapv:UnspecifiedMatching OMIM:601945 SFSWAP skos:exactMatch ncbigene:6433 semapv:UnspecifiedMatching -OMIM:601947 SOX12 skos:exactMatch hgnc:SOX12 semapv:UnspecifiedMatching +OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:11198 semapv:UnspecifiedMatching +OMIM:601947 SOX12 skos:exactMatch hgnc.symbol:SOX12 semapv:UnspecifiedMatching OMIM:601947 SOX12 skos:exactMatch ncbigene:6666 semapv:UnspecifiedMatching -OMIM:601949 CACNB4 skos:exactMatch hgnc:CACNB4 semapv:UnspecifiedMatching +OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:1404 semapv:UnspecifiedMatching +OMIM:601949 CACNB4 skos:exactMatch hgnc.symbol:CACNB4 semapv:UnspecifiedMatching OMIM:601949 CACNB4 skos:exactMatch ncbigene:785 semapv:UnspecifiedMatching -OMIM:601950 ZFPM1 skos:exactMatch hgnc:ZFPM1 semapv:UnspecifiedMatching +OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:19762 semapv:UnspecifiedMatching +OMIM:601950 ZFPM1 skos:exactMatch hgnc.symbol:ZFPM1 semapv:UnspecifiedMatching OMIM:601950 ZFPM1 skos:exactMatch ncbigene:161882 semapv:UnspecifiedMatching -OMIM:601951 CLK1 skos:exactMatch hgnc:CLK1 semapv:UnspecifiedMatching +OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:2068 semapv:UnspecifiedMatching +OMIM:601951 CLK1 skos:exactMatch hgnc.symbol:CLK1 semapv:UnspecifiedMatching OMIM:601951 CLK1 skos:exactMatch ncbigene:1195 semapv:UnspecifiedMatching -OMIM:601953 CCNH skos:exactMatch hgnc:CCNH semapv:UnspecifiedMatching +OMIM:601953 CCNH skos:exactMatch hgnc.symbol:1594 semapv:UnspecifiedMatching +OMIM:601953 CCNH skos:exactMatch hgnc.symbol:CCNH semapv:UnspecifiedMatching OMIM:601953 CCNH skos:exactMatch ncbigene:902 semapv:UnspecifiedMatching -OMIM:601955 CDK7 skos:exactMatch hgnc:CDK7 semapv:UnspecifiedMatching +OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:1778 semapv:UnspecifiedMatching +OMIM:601955 CDK7 skos:exactMatch hgnc.symbol:CDK7 semapv:UnspecifiedMatching OMIM:601955 CDK7 skos:exactMatch ncbigene:1022 semapv:UnspecifiedMatching -OMIM:601956 GFRA2 skos:exactMatch hgnc:GFRA2 semapv:UnspecifiedMatching +OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:4244 semapv:UnspecifiedMatching +OMIM:601956 GFRA2 skos:exactMatch hgnc.symbol:GFRA2 semapv:UnspecifiedMatching OMIM:601956 GFRA2 skos:exactMatch ncbigene:2675 semapv:UnspecifiedMatching -OMIM:601958 CACNB3 skos:exactMatch hgnc:CACNB3 semapv:UnspecifiedMatching +OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:1403 semapv:UnspecifiedMatching +OMIM:601958 CACNB3 skos:exactMatch hgnc.symbol:CACNB3 semapv:UnspecifiedMatching OMIM:601958 CACNB3 skos:exactMatch ncbigene:784 semapv:UnspecifiedMatching -OMIM:601959 NEK4 skos:exactMatch hgnc:NEK4 semapv:UnspecifiedMatching +OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:11399 semapv:UnspecifiedMatching +OMIM:601959 NEK4 skos:exactMatch hgnc.symbol:NEK4 semapv:UnspecifiedMatching OMIM:601959 NEK4 skos:exactMatch ncbigene:6787 semapv:UnspecifiedMatching -OMIM:601960 CCL20 skos:exactMatch hgnc:CCL20 semapv:UnspecifiedMatching +OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:10619 semapv:UnspecifiedMatching +OMIM:601960 CCL20 skos:exactMatch hgnc.symbol:CCL20 semapv:UnspecifiedMatching OMIM:601960 CCL20 skos:exactMatch ncbigene:6364 semapv:UnspecifiedMatching -OMIM:601961 PRMT2 skos:exactMatch hgnc:PRMT2 semapv:UnspecifiedMatching +OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:5186 semapv:UnspecifiedMatching +OMIM:601961 PRMT2 skos:exactMatch hgnc.symbol:PRMT2 semapv:UnspecifiedMatching OMIM:601961 PRMT2 skos:exactMatch ncbigene:3275 semapv:UnspecifiedMatching -OMIM:601962 TAPBP skos:exactMatch hgnc:TAPBP semapv:UnspecifiedMatching +OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:11566 semapv:UnspecifiedMatching +OMIM:601962 TAPBP skos:exactMatch hgnc.symbol:TAPBP semapv:UnspecifiedMatching OMIM:601962 TAPBP skos:exactMatch ncbigene:6892 semapv:UnspecifiedMatching -OMIM:601963 TTC1 skos:exactMatch hgnc:TTC1 semapv:UnspecifiedMatching +OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:12391 semapv:UnspecifiedMatching +OMIM:601963 TTC1 skos:exactMatch hgnc.symbol:TTC1 semapv:UnspecifiedMatching OMIM:601963 TTC1 skos:exactMatch ncbigene:7265 semapv:UnspecifiedMatching -OMIM:601964 DNAJC7 skos:exactMatch hgnc:DNAJC7 semapv:UnspecifiedMatching +OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:12392 semapv:UnspecifiedMatching +OMIM:601964 DNAJC7 skos:exactMatch hgnc.symbol:DNAJC7 semapv:UnspecifiedMatching OMIM:601964 DNAJC7 skos:exactMatch ncbigene:7266 semapv:UnspecifiedMatching -OMIM:601965 S1PR3 skos:exactMatch hgnc:S1PR3 semapv:UnspecifiedMatching +OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:3167 semapv:UnspecifiedMatching +OMIM:601965 S1PR3 skos:exactMatch hgnc.symbol:S1PR3 semapv:UnspecifiedMatching OMIM:601965 S1PR3 skos:exactMatch ncbigene:1903 semapv:UnspecifiedMatching -OMIM:601966 RSC1A1 skos:exactMatch hgnc:RSC1A1 semapv:UnspecifiedMatching +OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:10458 semapv:UnspecifiedMatching +OMIM:601966 RSC1A1 skos:exactMatch hgnc.symbol:RSC1A1 semapv:UnspecifiedMatching OMIM:601966 RSC1A1 skos:exactMatch ncbigene:6248 semapv:UnspecifiedMatching -OMIM:601967 WNT7B skos:exactMatch hgnc:WNT7B semapv:UnspecifiedMatching +OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:12787 semapv:UnspecifiedMatching +OMIM:601967 WNT7B skos:exactMatch hgnc.symbol:WNT7B semapv:UnspecifiedMatching OMIM:601967 WNT7B skos:exactMatch ncbigene:7477 semapv:UnspecifiedMatching -OMIM:601968 WNT2B skos:exactMatch hgnc:WNT2B semapv:UnspecifiedMatching +OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:12781 semapv:UnspecifiedMatching +OMIM:601968 WNT2B skos:exactMatch hgnc.symbol:WNT2B semapv:UnspecifiedMatching OMIM:601968 WNT2B skos:exactMatch ncbigene:7482 semapv:UnspecifiedMatching -OMIM:601969 DMBT1 skos:exactMatch hgnc:DMBT1 semapv:UnspecifiedMatching +OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:2926 semapv:UnspecifiedMatching +OMIM:601969 DMBT1 skos:exactMatch hgnc.symbol:DMBT1 semapv:UnspecifiedMatching OMIM:601969 DMBT1 skos:exactMatch ncbigene:1755 semapv:UnspecifiedMatching OMIM:601970 VIPR2 skos:exactMatch UMLS:C1421452 semapv:UnspecifiedMatching -OMIM:601970 VIPR2 skos:exactMatch hgnc:VIPR2 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:12695 semapv:UnspecifiedMatching +OMIM:601970 VIPR2 skos:exactMatch hgnc.symbol:VIPR2 semapv:UnspecifiedMatching OMIM:601970 VIPR2 skos:exactMatch ncbigene:7434 semapv:UnspecifiedMatching -OMIM:601972 RORB skos:exactMatch hgnc:RORB semapv:UnspecifiedMatching +OMIM:601972 RORB skos:exactMatch hgnc.symbol:10259 semapv:UnspecifiedMatching +OMIM:601972 RORB skos:exactMatch hgnc.symbol:RORB semapv:UnspecifiedMatching OMIM:601972 RORB skos:exactMatch ncbigene:6096 semapv:UnspecifiedMatching -OMIM:601973 RARRES2 skos:exactMatch hgnc:RARRES2 semapv:UnspecifiedMatching +OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:9868 semapv:UnspecifiedMatching +OMIM:601973 RARRES2 skos:exactMatch hgnc.symbol:RARRES2 semapv:UnspecifiedMatching OMIM:601973 RARRES2 skos:exactMatch ncbigene:5919 semapv:UnspecifiedMatching -OMIM:601974 S1PR1 skos:exactMatch hgnc:S1PR1 semapv:UnspecifiedMatching +OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:3165 semapv:UnspecifiedMatching +OMIM:601974 S1PR1 skos:exactMatch hgnc.symbol:S1PR1 semapv:UnspecifiedMatching OMIM:601974 S1PR1 skos:exactMatch ncbigene:1901 semapv:UnspecifiedMatching OMIM:601975 PKP1 skos:exactMatch UMLS:C1418612 semapv:UnspecifiedMatching OMIM:601975 PKP1 skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching -OMIM:601975 PKP1 skos:exactMatch hgnc:PKP1 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:9023 semapv:UnspecifiedMatching +OMIM:601975 PKP1 skos:exactMatch hgnc.symbol:PKP1 semapv:UnspecifiedMatching OMIM:601975 PKP1 skos:exactMatch ncbigene:5317 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:3318 semapv:UnspecifiedMatching +OMIM:601977 thrombocythemia 2 skos:exactMatch Orphanet:71493 semapv:UnspecifiedMatching OMIM:601977 thrombocythemia 2 skos:exactMatch UMLS:C3275998 semapv:UnspecifiedMatching -OMIM:601977 thrombocythemia 2 skos:exactMatch orphanet.ordo:3318 semapv:UnspecifiedMatching -OMIM:601977 thrombocythemia 2 skos:exactMatch orphanet.ordo:71493 semapv:UnspecifiedMatching -OMIM:601978 SIGMAR1 skos:exactMatch hgnc:SIGMAR1 semapv:UnspecifiedMatching +OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:8157 semapv:UnspecifiedMatching +OMIM:601978 SIGMAR1 skos:exactMatch hgnc.symbol:SIGMAR1 semapv:UnspecifiedMatching OMIM:601978 SIGMAR1 skos:exactMatch ncbigene:10280 semapv:UnspecifiedMatching -OMIM:601980 LIPF skos:exactMatch hgnc:LIPF semapv:UnspecifiedMatching +OMIM:601980 LIPF skos:exactMatch hgnc.symbol:6622 semapv:UnspecifiedMatching +OMIM:601980 LIPF skos:exactMatch hgnc.symbol:LIPF semapv:UnspecifiedMatching OMIM:601980 LIPF skos:exactMatch ncbigene:8513 semapv:UnspecifiedMatching -OMIM:601981 RNASE6 skos:exactMatch hgnc:RNASE6 semapv:UnspecifiedMatching +OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:10048 semapv:UnspecifiedMatching +OMIM:601981 RNASE6 skos:exactMatch hgnc.symbol:RNASE6 semapv:UnspecifiedMatching OMIM:601981 RNASE6 skos:exactMatch ncbigene:6039 semapv:UnspecifiedMatching -OMIM:601982 OGG1 skos:exactMatch hgnc:OGG1 semapv:UnspecifiedMatching +OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:8125 semapv:UnspecifiedMatching +OMIM:601982 OGG1 skos:exactMatch hgnc.symbol:OGG1 semapv:UnspecifiedMatching OMIM:601982 OGG1 skos:exactMatch ncbigene:4968 semapv:UnspecifiedMatching -OMIM:601983 MAP4K1 skos:exactMatch hgnc:MAP4K1 semapv:UnspecifiedMatching +OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:6863 semapv:UnspecifiedMatching +OMIM:601983 MAP4K1 skos:exactMatch hgnc.symbol:MAP4K1 semapv:UnspecifiedMatching OMIM:601983 MAP4K1 skos:exactMatch ncbigene:11184 semapv:UnspecifiedMatching -OMIM:601984 NCOA4 skos:exactMatch hgnc:NCOA4 semapv:UnspecifiedMatching +OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:7671 semapv:UnspecifiedMatching +OMIM:601984 NCOA4 skos:exactMatch hgnc.symbol:NCOA4 semapv:UnspecifiedMatching OMIM:601984 NCOA4 skos:exactMatch ncbigene:8031 semapv:UnspecifiedMatching -OMIM:601985 CCDC6 skos:exactMatch hgnc:CCDC6 semapv:UnspecifiedMatching +OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:18782 semapv:UnspecifiedMatching +OMIM:601985 CCDC6 skos:exactMatch hgnc.symbol:CCDC6 semapv:UnspecifiedMatching OMIM:601985 CCDC6 skos:exactMatch ncbigene:8030 semapv:UnspecifiedMatching -OMIM:601987 CPT1B skos:exactMatch hgnc:CPT1B semapv:UnspecifiedMatching +OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:2329 semapv:UnspecifiedMatching +OMIM:601987 CPT1B skos:exactMatch hgnc.symbol:CPT1B semapv:UnspecifiedMatching OMIM:601987 CPT1B skos:exactMatch ncbigene:1375 semapv:UnspecifiedMatching -OMIM:601988 LIMK2 skos:exactMatch hgnc:LIMK2 semapv:UnspecifiedMatching +OMIM:601988 LIMK2 skos:exactMatch hgnc.symbol:6614 semapv:UnspecifiedMatching +OMIM:601988 LIMK2 skos:exactMatch hgnc.symbol:LIMK2 semapv:UnspecifiedMatching OMIM:601988 LIMK2 skos:exactMatch ncbigene:3985 semapv:UnspecifiedMatching -OMIM:601989 S100A13 skos:exactMatch hgnc:S100A13 semapv:UnspecifiedMatching +OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:10490 semapv:UnspecifiedMatching +OMIM:601989 S100A13 skos:exactMatch hgnc.symbol:S100A13 semapv:UnspecifiedMatching OMIM:601989 S100A13 skos:exactMatch ncbigene:6284 semapv:UnspecifiedMatching -OMIM:601990 TP73 skos:exactMatch hgnc:TP73 semapv:UnspecifiedMatching +OMIM:601990 TP73 skos:exactMatch hgnc.symbol:12003 semapv:UnspecifiedMatching +OMIM:601990 TP73 skos:exactMatch hgnc.symbol:TP73 semapv:UnspecifiedMatching OMIM:601990 TP73 skos:exactMatch ncbigene:7161 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C1334891 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394569 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394570 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch UMLS:C5394571 semapv:UnspecifiedMatching -OMIM:601991 NOVA2 skos:exactMatch hgnc:NOVA2 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:7887 semapv:UnspecifiedMatching +OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:NOVA2 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch ncbigene:4858 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch UMLS:C1334867 semapv:UnspecifiedMatching -OMIM:601993 NCOA2 skos:exactMatch hgnc:NCOA2 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:7669 semapv:UnspecifiedMatching +OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:NCOA2 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch ncbigene:10499 semapv:UnspecifiedMatching -OMIM:601995 TNR skos:exactMatch hgnc:TNR semapv:UnspecifiedMatching +OMIM:601995 TNR skos:exactMatch hgnc.symbol:11953 semapv:UnspecifiedMatching +OMIM:601995 TNR skos:exactMatch hgnc.symbol:TNR semapv:UnspecifiedMatching OMIM:601995 TNR skos:exactMatch ncbigene:7143 semapv:UnspecifiedMatching -OMIM:601997 BID skos:exactMatch hgnc:BID semapv:UnspecifiedMatching +OMIM:601997 BID skos:exactMatch hgnc.symbol:1050 semapv:UnspecifiedMatching +OMIM:601997 BID skos:exactMatch hgnc.symbol:BID semapv:UnspecifiedMatching OMIM:601997 BID skos:exactMatch ncbigene:637 semapv:UnspecifiedMatching -OMIM:601998 ESRRA skos:exactMatch hgnc:ESRRA semapv:UnspecifiedMatching +OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:3471 semapv:UnspecifiedMatching +OMIM:601998 ESRRA skos:exactMatch hgnc.symbol:ESRRA semapv:UnspecifiedMatching OMIM:601998 ESRRA skos:exactMatch ncbigene:2101 semapv:UnspecifiedMatching -OMIM:601999 LHX1 skos:exactMatch hgnc:LHX1 semapv:UnspecifiedMatching +OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:6593 semapv:UnspecifiedMatching +OMIM:601999 LHX1 skos:exactMatch hgnc.symbol:LHX1 semapv:UnspecifiedMatching OMIM:601999 LHX1 skos:exactMatch ncbigene:3975 semapv:UnspecifiedMatching OMIM:602000 POLR1B skos:exactMatch UMLS:C1426947 semapv:UnspecifiedMatching OMIM:602000 POLR1B skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching -OMIM:602000 POLR1B skos:exactMatch hgnc:POLR1B semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:20454 semapv:UnspecifiedMatching +OMIM:602000 POLR1B skos:exactMatch hgnc.symbol:POLR1B semapv:UnspecifiedMatching OMIM:602000 POLR1B skos:exactMatch ncbigene:84172 semapv:UnspecifiedMatching -OMIM:602001 NPY5R skos:exactMatch hgnc:NPY5R semapv:UnspecifiedMatching +OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:7958 semapv:UnspecifiedMatching +OMIM:602001 NPY5R skos:exactMatch hgnc.symbol:NPY5R semapv:UnspecifiedMatching OMIM:602001 NPY5R skos:exactMatch ncbigene:4889 semapv:UnspecifiedMatching -OMIM:602002 ZYX skos:exactMatch hgnc:ZYX semapv:UnspecifiedMatching +OMIM:602002 ZYX skos:exactMatch hgnc.symbol:13200 semapv:UnspecifiedMatching +OMIM:602002 ZYX skos:exactMatch hgnc.symbol:ZYX semapv:UnspecifiedMatching OMIM:602002 ZYX skos:exactMatch ncbigene:7791 semapv:UnspecifiedMatching -OMIM:602003 LRMP skos:exactMatch hgnc:IRAG2 semapv:UnspecifiedMatching +OMIM:602003 LRMP skos:exactMatch hgnc.symbol:6690 semapv:UnspecifiedMatching +OMIM:602003 LRMP skos:exactMatch hgnc.symbol:IRAG2 semapv:UnspecifiedMatching OMIM:602003 LRMP skos:exactMatch ncbigene:4033 semapv:UnspecifiedMatching -OMIM:602004 PTK6 skos:exactMatch hgnc:PTK6 semapv:UnspecifiedMatching +OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:9617 semapv:UnspecifiedMatching +OMIM:602004 PTK6 skos:exactMatch hgnc.symbol:PTK6 semapv:UnspecifiedMatching OMIM:602004 PTK6 skos:exactMatch ncbigene:5753 semapv:UnspecifiedMatching OMIM:602005 SORL1 skos:exactMatch UMLS:C1420312 semapv:UnspecifiedMatching -OMIM:602005 SORL1 skos:exactMatch hgnc:SORL1 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:11185 semapv:UnspecifiedMatching +OMIM:602005 SORL1 skos:exactMatch hgnc.symbol:SORL1 semapv:UnspecifiedMatching OMIM:602005 SORL1 skos:exactMatch ncbigene:6653 semapv:UnspecifiedMatching -OMIM:602006 MAPKAPK2 skos:exactMatch hgnc:MAPKAPK2 semapv:UnspecifiedMatching +OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:6887 semapv:UnspecifiedMatching +OMIM:602006 MAPKAPK2 skos:exactMatch hgnc.symbol:MAPKAPK2 semapv:UnspecifiedMatching OMIM:602006 MAPKAPK2 skos:exactMatch ncbigene:9261 semapv:UnspecifiedMatching -OMIM:602007 CRKL skos:exactMatch hgnc:CRKL semapv:UnspecifiedMatching +OMIM:602007 CRKL skos:exactMatch hgnc.symbol:2363 semapv:UnspecifiedMatching +OMIM:602007 CRKL skos:exactMatch hgnc.symbol:CRKL semapv:UnspecifiedMatching OMIM:602007 CRKL skos:exactMatch ncbigene:1399 semapv:UnspecifiedMatching -OMIM:602008 IPO5 skos:exactMatch hgnc:IPO5 semapv:UnspecifiedMatching +OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:6402 semapv:UnspecifiedMatching +OMIM:602008 IPO5 skos:exactMatch hgnc.symbol:IPO5 semapv:UnspecifiedMatching OMIM:602008 IPO5 skos:exactMatch ncbigene:3843 semapv:UnspecifiedMatching OMIM:602009 COX6A2 skos:exactMatch UMLS:C1413648 semapv:UnspecifiedMatching OMIM:602009 COX6A2 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching -OMIM:602009 COX6A2 skos:exactMatch hgnc:COX6A2 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:2279 semapv:UnspecifiedMatching +OMIM:602009 COX6A2 skos:exactMatch hgnc.symbol:COX6A2 semapv:UnspecifiedMatching OMIM:602009 COX6A2 skos:exactMatch ncbigene:1339 semapv:UnspecifiedMatching -OMIM:602010 SRSF11 skos:exactMatch hgnc:SRSF11 semapv:UnspecifiedMatching +OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:10782 semapv:UnspecifiedMatching +OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:SRSF11 semapv:UnspecifiedMatching OMIM:602010 SRSF11 skos:exactMatch ncbigene:9295 semapv:UnspecifiedMatching OMIM:602011 suppressor of tumorigenicity 11 skos:exactMatch UMLS:C1420440 semapv:UnspecifiedMatching -OMIM:602012 ENTPD2 skos:exactMatch hgnc:ENTPD2 semapv:UnspecifiedMatching +OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:3364 semapv:UnspecifiedMatching +OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:ENTPD2 semapv:UnspecifiedMatching OMIM:602012 ENTPD2 skos:exactMatch ncbigene:954 semapv:UnspecifiedMatching -OMIM:602013 POLR2G skos:exactMatch hgnc:POLR2G semapv:UnspecifiedMatching +OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:9194 semapv:UnspecifiedMatching +OMIM:602013 POLR2G skos:exactMatch hgnc.symbol:POLR2G semapv:UnspecifiedMatching OMIM:602013 POLR2G skos:exactMatch ncbigene:5436 semapv:UnspecifiedMatching -OMIM:602015 ODF2 skos:exactMatch hgnc:ODF2 semapv:UnspecifiedMatching +OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:8114 semapv:UnspecifiedMatching +OMIM:602015 ODF2 skos:exactMatch hgnc.symbol:ODF2 semapv:UnspecifiedMatching OMIM:602015 ODF2 skos:exactMatch ncbigene:4957 semapv:UnspecifiedMatching -OMIM:602016 KLF2 skos:exactMatch hgnc:KLF2 semapv:UnspecifiedMatching +OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:6347 semapv:UnspecifiedMatching +OMIM:602016 KLF2 skos:exactMatch hgnc.symbol:KLF2 semapv:UnspecifiedMatching OMIM:602016 KLF2 skos:exactMatch ncbigene:10365 semapv:UnspecifiedMatching -OMIM:602017 PSMB1 skos:exactMatch hgnc:PSMB1 semapv:UnspecifiedMatching +OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:9537 semapv:UnspecifiedMatching +OMIM:602017 PSMB1 skos:exactMatch hgnc.symbol:PSMB1 semapv:UnspecifiedMatching OMIM:602017 PSMB1 skos:exactMatch ncbigene:5689 semapv:UnspecifiedMatching -OMIM:602018 NRTN skos:exactMatch hgnc:NRTN semapv:UnspecifiedMatching +OMIM:602018 NRTN skos:exactMatch hgnc.symbol:8007 semapv:UnspecifiedMatching +OMIM:602018 NRTN skos:exactMatch hgnc.symbol:NRTN semapv:UnspecifiedMatching OMIM:602018 NRTN skos:exactMatch ncbigene:4902 semapv:UnspecifiedMatching -OMIM:602019 SQLE skos:exactMatch hgnc:SQLE semapv:UnspecifiedMatching +OMIM:602019 SQLE skos:exactMatch hgnc.symbol:11279 semapv:UnspecifiedMatching +OMIM:602019 SQLE skos:exactMatch hgnc.symbol:SQLE semapv:UnspecifiedMatching OMIM:602019 SQLE skos:exactMatch ncbigene:6713 semapv:UnspecifiedMatching OMIM:602020 MAFG skos:exactMatch UMLS:C0812300 semapv:UnspecifiedMatching -OMIM:602020 MAFG skos:exactMatch hgnc:MAFG semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch hgnc.symbol:6781 semapv:UnspecifiedMatching +OMIM:602020 MAFG skos:exactMatch hgnc.symbol:MAFG semapv:UnspecifiedMatching OMIM:602020 MAFG skos:exactMatch ncbigene:4097 semapv:UnspecifiedMatching OMIM:602021 PPP1R12A skos:exactMatch UMLS:C1417581 semapv:UnspecifiedMatching OMIM:602021 PPP1R12A skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching -OMIM:602021 PPP1R12A skos:exactMatch hgnc:PPP1R12A semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:7618 semapv:UnspecifiedMatching +OMIM:602021 PPP1R12A skos:exactMatch hgnc.symbol:PPP1R12A semapv:UnspecifiedMatching OMIM:602021 PPP1R12A skos:exactMatch ncbigene:4659 semapv:UnspecifiedMatching -OMIM:602022 MALL skos:exactMatch hgnc:MALL semapv:UnspecifiedMatching +OMIM:602022 MALL skos:exactMatch hgnc.symbol:6818 semapv:UnspecifiedMatching +OMIM:602022 MALL skos:exactMatch hgnc.symbol:MALL semapv:UnspecifiedMatching OMIM:602022 MALL skos:exactMatch ncbigene:7851 semapv:UnspecifiedMatching -OMIM:602023 CLCNKB skos:exactMatch hgnc:CLCNKB semapv:UnspecifiedMatching +OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:2027 semapv:UnspecifiedMatching +OMIM:602023 CLCNKB skos:exactMatch hgnc.symbol:CLCNKB semapv:UnspecifiedMatching OMIM:602023 CLCNKB skos:exactMatch ncbigene:1188 semapv:UnspecifiedMatching -OMIM:602024 CLCNKA skos:exactMatch hgnc:CLCNKA semapv:UnspecifiedMatching +OMIM:602024 CLCNKA skos:exactMatch hgnc.symbol:2026 semapv:UnspecifiedMatching +OMIM:602024 CLCNKA skos:exactMatch hgnc.symbol:CLCNKA semapv:UnspecifiedMatching OMIM:602024 CLCNKA skos:exactMatch ncbigene:1187 semapv:UnspecifiedMatching -OMIM:602026 PHYH skos:exactMatch hgnc:PHYH semapv:UnspecifiedMatching +OMIM:602026 PHYH skos:exactMatch hgnc.symbol:8940 semapv:UnspecifiedMatching +OMIM:602026 PHYH skos:exactMatch hgnc.symbol:PHYH semapv:UnspecifiedMatching OMIM:602026 PHYH skos:exactMatch ncbigene:5264 semapv:UnspecifiedMatching OMIM:602027 TERF2 skos:exactMatch UMLS:C1336605 semapv:UnspecifiedMatching -OMIM:602027 TERF2 skos:exactMatch hgnc:TERF2 semapv:UnspecifiedMatching +OMIM:602027 TERF2 skos:exactMatch hgnc.symbol:11729 semapv:UnspecifiedMatching +OMIM:602027 TERF2 skos:exactMatch hgnc.symbol:TERF2 semapv:UnspecifiedMatching OMIM:602027 TERF2 skos:exactMatch ncbigene:7014 semapv:UnspecifiedMatching OMIM:602030 FUT7 skos:exactMatch UMLS:C1414868 semapv:UnspecifiedMatching -OMIM:602030 FUT7 skos:exactMatch hgnc:FUT7 semapv:UnspecifiedMatching +OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:4018 semapv:UnspecifiedMatching +OMIM:602030 FUT7 skos:exactMatch hgnc.symbol:FUT7 semapv:UnspecifiedMatching OMIM:602030 FUT7 skos:exactMatch ncbigene:2529 semapv:UnspecifiedMatching -OMIM:602031 PGGT1B skos:exactMatch hgnc:PGGT1B semapv:UnspecifiedMatching +OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:8895 semapv:UnspecifiedMatching +OMIM:602031 PGGT1B skos:exactMatch hgnc.symbol:PGGT1B semapv:UnspecifiedMatching OMIM:602031 PGGT1B skos:exactMatch ncbigene:5229 semapv:UnspecifiedMatching -OMIM:602033 EML1 skos:exactMatch hgnc:EML1 semapv:UnspecifiedMatching +OMIM:602033 EML1 skos:exactMatch hgnc.symbol:3330 semapv:UnspecifiedMatching +OMIM:602033 EML1 skos:exactMatch hgnc.symbol:EML1 semapv:UnspecifiedMatching OMIM:602033 EML1 skos:exactMatch ncbigene:2009 semapv:UnspecifiedMatching -OMIM:602034 CRHR2 skos:exactMatch hgnc:CRHR2 semapv:UnspecifiedMatching +OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:2358 semapv:UnspecifiedMatching +OMIM:602034 CRHR2 skos:exactMatch hgnc.symbol:CRHR2 semapv:UnspecifiedMatching OMIM:602034 CRHR2 skos:exactMatch ncbigene:1395 semapv:UnspecifiedMatching OMIM:602035 PPP4C skos:exactMatch UMLS:C1418850 semapv:UnspecifiedMatching -OMIM:602035 PPP4C skos:exactMatch hgnc:PPP4C semapv:UnspecifiedMatching +OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:9319 semapv:UnspecifiedMatching +OMIM:602035 PPP4C skos:exactMatch hgnc.symbol:PPP4C semapv:UnspecifiedMatching OMIM:602035 PPP4C skos:exactMatch ncbigene:5531 semapv:UnspecifiedMatching -OMIM:602037 RHOH skos:exactMatch hgnc:RHOH semapv:UnspecifiedMatching +OMIM:602037 RHOH skos:exactMatch hgnc.symbol:686 semapv:UnspecifiedMatching +OMIM:602037 RHOH skos:exactMatch hgnc.symbol:RHOH semapv:UnspecifiedMatching OMIM:602037 RHOH skos:exactMatch ncbigene:399 semapv:UnspecifiedMatching -OMIM:602038 DUSP8 skos:exactMatch hgnc:DUSP8 semapv:UnspecifiedMatching +OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:3074 semapv:UnspecifiedMatching +OMIM:602038 DUSP8 skos:exactMatch hgnc.symbol:DUSP8 semapv:UnspecifiedMatching OMIM:602038 DUSP8 skos:exactMatch ncbigene:1850 semapv:UnspecifiedMatching -OMIM:602039 EIF3A skos:exactMatch hgnc:EIF3A semapv:UnspecifiedMatching +OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:3271 semapv:UnspecifiedMatching +OMIM:602039 EIF3A skos:exactMatch hgnc.symbol:EIF3A semapv:UnspecifiedMatching OMIM:602039 EIF3A skos:exactMatch ncbigene:8661 semapv:UnspecifiedMatching -OMIM:602040 NCAM2 skos:exactMatch hgnc:NCAM2 semapv:UnspecifiedMatching +OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:7657 semapv:UnspecifiedMatching +OMIM:602040 NCAM2 skos:exactMatch hgnc.symbol:NCAM2 semapv:UnspecifiedMatching OMIM:602040 NCAM2 skos:exactMatch ncbigene:4685 semapv:UnspecifiedMatching -OMIM:602041 NKX3-1 skos:exactMatch hgnc:NKX3-1 semapv:UnspecifiedMatching +OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:7838 semapv:UnspecifiedMatching +OMIM:602041 NKX3-1 skos:exactMatch hgnc.symbol:NKX3-1 semapv:UnspecifiedMatching OMIM:602041 NKX3-1 skos:exactMatch ncbigene:4824 semapv:UnspecifiedMatching -OMIM:602042 GPR18 skos:exactMatch hgnc:GPR18 semapv:UnspecifiedMatching +OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:4472 semapv:UnspecifiedMatching +OMIM:602042 GPR18 skos:exactMatch hgnc.symbol:GPR18 semapv:UnspecifiedMatching OMIM:602042 GPR18 skos:exactMatch ncbigene:2841 semapv:UnspecifiedMatching -OMIM:602043 GPR31 skos:exactMatch hgnc:GPR31 semapv:UnspecifiedMatching +OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:4486 semapv:UnspecifiedMatching +OMIM:602043 GPR31 skos:exactMatch hgnc.symbol:GPR31 semapv:UnspecifiedMatching OMIM:602043 GPR31 skos:exactMatch ncbigene:2853 semapv:UnspecifiedMatching -OMIM:602044 UCP3 skos:exactMatch hgnc:UCP3 semapv:UnspecifiedMatching +OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:12519 semapv:UnspecifiedMatching +OMIM:602044 UCP3 skos:exactMatch hgnc.symbol:UCP3 semapv:UnspecifiedMatching OMIM:602044 UCP3 skos:exactMatch ncbigene:7352 semapv:UnspecifiedMatching -OMIM:602045 RING1 skos:exactMatch hgnc:RING1 semapv:UnspecifiedMatching +OMIM:602045 RING1 skos:exactMatch hgnc.symbol:10018 semapv:UnspecifiedMatching +OMIM:602045 RING1 skos:exactMatch hgnc.symbol:RING1 semapv:UnspecifiedMatching OMIM:602045 RING1 skos:exactMatch ncbigene:6015 semapv:UnspecifiedMatching -OMIM:602046 PDIA3 skos:exactMatch hgnc:PDIA3 semapv:UnspecifiedMatching +OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:4606 semapv:UnspecifiedMatching +OMIM:602046 PDIA3 skos:exactMatch hgnc.symbol:PDIA3 semapv:UnspecifiedMatching OMIM:602046 PDIA3 skos:exactMatch ncbigene:2923 semapv:UnspecifiedMatching OMIM:602047 PDE3B skos:exactMatch UMLS:C1418419 semapv:UnspecifiedMatching -OMIM:602047 PDE3B skos:exactMatch hgnc:PDE3B semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:8779 semapv:UnspecifiedMatching +OMIM:602047 PDE3B skos:exactMatch hgnc.symbol:PDE3B semapv:UnspecifiedMatching OMIM:602047 PDE3B skos:exactMatch ncbigene:5140 semapv:UnspecifiedMatching -OMIM:602048 RAC1 skos:exactMatch hgnc:RAC1 semapv:UnspecifiedMatching +OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:9801 semapv:UnspecifiedMatching +OMIM:602048 RAC1 skos:exactMatch hgnc.symbol:RAC1 semapv:UnspecifiedMatching OMIM:602048 RAC1 skos:exactMatch ncbigene:5879 semapv:UnspecifiedMatching OMIM:602049 RAC2 skos:exactMatch UMLS:C1419228 semapv:UnspecifiedMatching OMIM:602049 RAC2 skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching OMIM:602049 RAC2 skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching OMIM:602049 RAC2 skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching -OMIM:602049 RAC2 skos:exactMatch hgnc:RAC2 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:9802 semapv:UnspecifiedMatching +OMIM:602049 RAC2 skos:exactMatch hgnc.symbol:RAC2 semapv:UnspecifiedMatching OMIM:602049 RAC2 skos:exactMatch ncbigene:5880 semapv:UnspecifiedMatching -OMIM:602050 RAC3 skos:exactMatch hgnc:RAC3 semapv:UnspecifiedMatching +OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:9803 semapv:UnspecifiedMatching +OMIM:602050 RAC3 skos:exactMatch hgnc.symbol:RAC3 semapv:UnspecifiedMatching OMIM:602050 RAC3 skos:exactMatch ncbigene:5881 semapv:UnspecifiedMatching -OMIM:602051 PIN1L skos:exactMatch hgnc:PIN1P1 semapv:UnspecifiedMatching +OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:8989 semapv:UnspecifiedMatching +OMIM:602051 PIN1L skos:exactMatch hgnc.symbol:PIN1P1 semapv:UnspecifiedMatching OMIM:602051 PIN1L skos:exactMatch ncbigene:5301 semapv:UnspecifiedMatching -OMIM:602052 GAK skos:exactMatch hgnc:GAK semapv:UnspecifiedMatching +OMIM:602052 GAK skos:exactMatch hgnc.symbol:4113 semapv:UnspecifiedMatching +OMIM:602052 GAK skos:exactMatch hgnc.symbol:GAK semapv:UnspecifiedMatching OMIM:602052 GAK skos:exactMatch ncbigene:2580 semapv:UnspecifiedMatching -OMIM:602053 KLF6 skos:exactMatch hgnc:KLF6 semapv:UnspecifiedMatching +OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:2235 semapv:UnspecifiedMatching +OMIM:602053 KLF6 skos:exactMatch hgnc.symbol:KLF6 semapv:UnspecifiedMatching OMIM:602053 KLF6 skos:exactMatch ncbigene:1316 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C0012236 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C0220704 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C1420603 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch UMLS:C4016770 semapv:UnspecifiedMatching -OMIM:602054 TBX1 skos:exactMatch hgnc:TBX1 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:11592 semapv:UnspecifiedMatching +OMIM:602054 TBX1 skos:exactMatch hgnc.symbol:TBX1 semapv:UnspecifiedMatching OMIM:602054 TBX1 skos:exactMatch ncbigene:6899 semapv:UnspecifiedMatching OMIM:602055 INSIG1 skos:exactMatch UMLS:C1416450 semapv:UnspecifiedMatching -OMIM:602055 INSIG1 skos:exactMatch hgnc:INSIG1 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:6083 semapv:UnspecifiedMatching +OMIM:602055 INSIG1 skos:exactMatch hgnc.symbol:INSIG1 semapv:UnspecifiedMatching OMIM:602055 INSIG1 skos:exactMatch ncbigene:3638 semapv:UnspecifiedMatching -OMIM:602056 DEFB1 skos:exactMatch hgnc:DEFB1 semapv:UnspecifiedMatching +OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:2766 semapv:UnspecifiedMatching +OMIM:602056 DEFB1 skos:exactMatch hgnc.symbol:DEFB1 semapv:UnspecifiedMatching OMIM:602056 DEFB1 skos:exactMatch ncbigene:1672 semapv:UnspecifiedMatching -OMIM:602058 PI10 skos:exactMatch hgnc:SERPINB10 semapv:UnspecifiedMatching +OMIM:602058 PI10 skos:exactMatch hgnc.symbol:8942 semapv:UnspecifiedMatching +OMIM:602058 PI10 skos:exactMatch hgnc.symbol:SERPINB10 semapv:UnspecifiedMatching OMIM:602058 PI10 skos:exactMatch ncbigene:5273 semapv:UnspecifiedMatching -OMIM:602059 ISLR skos:exactMatch hgnc:ISLR semapv:UnspecifiedMatching +OMIM:602059 ISLR skos:exactMatch hgnc.symbol:6133 semapv:UnspecifiedMatching +OMIM:602059 ISLR skos:exactMatch hgnc.symbol:ISLR semapv:UnspecifiedMatching OMIM:602059 ISLR skos:exactMatch ncbigene:3671 semapv:UnspecifiedMatching OMIM:602060 TMPRSS2 skos:exactMatch UMLS:C1336641 semapv:UnspecifiedMatching -OMIM:602060 TMPRSS2 skos:exactMatch hgnc:TMPRSS2 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:11876 semapv:UnspecifiedMatching +OMIM:602060 TMPRSS2 skos:exactMatch hgnc.symbol:TMPRSS2 semapv:UnspecifiedMatching OMIM:602060 TMPRSS2 skos:exactMatch ncbigene:7113 semapv:UnspecifiedMatching -OMIM:602061 EREG skos:exactMatch hgnc:EREG semapv:UnspecifiedMatching +OMIM:602061 EREG skos:exactMatch hgnc.symbol:3443 semapv:UnspecifiedMatching +OMIM:602061 EREG skos:exactMatch hgnc.symbol:EREG semapv:UnspecifiedMatching OMIM:602061 EREG skos:exactMatch ncbigene:2069 semapv:UnspecifiedMatching -OMIM:602062 NINJ1 skos:exactMatch hgnc:NINJ1 semapv:UnspecifiedMatching +OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:7824 semapv:UnspecifiedMatching +OMIM:602062 NINJ1 skos:exactMatch hgnc.symbol:NINJ1 semapv:UnspecifiedMatching OMIM:602062 NINJ1 skos:exactMatch ncbigene:4814 semapv:UnspecifiedMatching OMIM:602063 TALDO1 skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching OMIM:602063 TALDO1 skos:exactMatch UMLS:C1420580 semapv:UnspecifiedMatching -OMIM:602063 TALDO1 skos:exactMatch hgnc:TALDO1 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:11559 semapv:UnspecifiedMatching +OMIM:602063 TALDO1 skos:exactMatch hgnc.symbol:TALDO1 semapv:UnspecifiedMatching OMIM:602063 TALDO1 skos:exactMatch ncbigene:6888 semapv:UnspecifiedMatching -OMIM:602064 IMPA1 skos:exactMatch hgnc:IMPA1 semapv:UnspecifiedMatching +OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:6050 semapv:UnspecifiedMatching +OMIM:602064 IMPA1 skos:exactMatch hgnc.symbol:IMPA1 semapv:UnspecifiedMatching OMIM:602064 IMPA1 skos:exactMatch ncbigene:3612 semapv:UnspecifiedMatching -OMIM:602065 ADARB2 skos:exactMatch hgnc:ADARB2 semapv:UnspecifiedMatching +OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:227 semapv:UnspecifiedMatching +OMIM:602065 ADARB2 skos:exactMatch hgnc.symbol:ADARB2 semapv:UnspecifiedMatching OMIM:602065 ADARB2 skos:exactMatch ncbigene:105 semapv:UnspecifiedMatching -OMIM:602069 NRP1 skos:exactMatch hgnc:NRP1 semapv:UnspecifiedMatching +OMIM:602069 NRP1 skos:exactMatch hgnc.symbol:8004 semapv:UnspecifiedMatching +OMIM:602069 NRP1 skos:exactMatch hgnc.symbol:NRP1 semapv:UnspecifiedMatching OMIM:602069 NRP1 skos:exactMatch ncbigene:8829 semapv:UnspecifiedMatching -OMIM:602070 NRP2 skos:exactMatch hgnc:NRP2 semapv:UnspecifiedMatching +OMIM:602070 NRP2 skos:exactMatch hgnc.symbol:8005 semapv:UnspecifiedMatching +OMIM:602070 NRP2 skos:exactMatch hgnc.symbol:NRP2 semapv:UnspecifiedMatching OMIM:602070 NRP2 skos:exactMatch ncbigene:8828 semapv:UnspecifiedMatching -OMIM:602072 COX6A1 skos:exactMatch hgnc:COX6A1 semapv:UnspecifiedMatching +OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:2277 semapv:UnspecifiedMatching +OMIM:602072 COX6A1 skos:exactMatch hgnc.symbol:COX6A1 semapv:UnspecifiedMatching OMIM:602072 COX6A1 skos:exactMatch ncbigene:1337 semapv:UnspecifiedMatching -OMIM:602074 DAP3 skos:exactMatch hgnc:DAP3 semapv:UnspecifiedMatching +OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:2673 semapv:UnspecifiedMatching +OMIM:602074 DAP3 skos:exactMatch hgnc.symbol:DAP3 semapv:UnspecifiedMatching OMIM:602074 DAP3 skos:exactMatch ncbigene:7818 semapv:UnspecifiedMatching OMIM:602075 SATB1 skos:exactMatch UMLS:C1419822 semapv:UnspecifiedMatching -OMIM:602075 SATB1 skos:exactMatch hgnc:SATB1 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:10541 semapv:UnspecifiedMatching +OMIM:602075 SATB1 skos:exactMatch hgnc.symbol:SATB1 semapv:UnspecifiedMatching OMIM:602075 SATB1 skos:exactMatch ncbigene:6304 semapv:UnspecifiedMatching -OMIM:602076 TRPV1 skos:exactMatch hgnc:TRPV1 semapv:UnspecifiedMatching +OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:12716 semapv:UnspecifiedMatching +OMIM:602076 TRPV1 skos:exactMatch hgnc.symbol:TRPV1 semapv:UnspecifiedMatching OMIM:602076 TRPV1 skos:exactMatch ncbigene:7442 semapv:UnspecifiedMatching +OMIM:602079 trimethylaminuria skos:exactMatch Orphanet:468726 semapv:UnspecifiedMatching OMIM:602079 trimethylaminuria skos:exactMatch UMLS:C0342739 semapv:UnspecifiedMatching -OMIM:602079 trimethylaminuria skos:exactMatch orphanet.ordo:468726 semapv:UnspecifiedMatching OMIM:602080 paget disease of bone 2, early-onset skos:exactMatch UMLS:C4085251 semapv:UnspecifiedMatching +OMIM:602081 speech-language disorder 1 skos:exactMatch Orphanet:209908 semapv:UnspecifiedMatching OMIM:602081 speech-language disorder 1 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching -OMIM:602081 speech-language disorder 1 skos:exactMatch orphanet.ordo:209908 semapv:UnspecifiedMatching -OMIM:602090 LTBP3 skos:exactMatch hgnc:LTBP3 semapv:UnspecifiedMatching +OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:6716 semapv:UnspecifiedMatching +OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:LTBP3 semapv:UnspecifiedMatching OMIM:602090 LTBP3 skos:exactMatch ncbigene:4054 semapv:UnspecifiedMatching -OMIM:602091 LTBP2 skos:exactMatch hgnc:LTBP2 semapv:UnspecifiedMatching +OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:6715 semapv:UnspecifiedMatching +OMIM:602091 LTBP2 skos:exactMatch hgnc.symbol:LTBP2 semapv:UnspecifiedMatching OMIM:602091 LTBP2 skos:exactMatch ncbigene:4053 semapv:UnspecifiedMatching +OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching -OMIM:602092 deafness, autosomal recessive 18a skos:exactMatch orphanet.ordo:90636 semapv:UnspecifiedMatching -OMIM:602095 SLC30A4 skos:exactMatch hgnc:SLC30A4 semapv:UnspecifiedMatching +OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:11015 semapv:UnspecifiedMatching +OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:SLC30A4 semapv:UnspecifiedMatching OMIM:602095 SLC30A4 skos:exactMatch ncbigene:7782 semapv:UnspecifiedMatching -OMIM:602098 PLK1 skos:exactMatch hgnc:PLK1 semapv:UnspecifiedMatching +OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:9077 semapv:UnspecifiedMatching +OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:PLK1 semapv:UnspecifiedMatching OMIM:602098 PLK1 skos:exactMatch ncbigene:5347 semapv:UnspecifiedMatching -OMIM:602100 PKNOX1 skos:exactMatch hgnc:PKNOX1 semapv:UnspecifiedMatching +OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:9022 semapv:UnspecifiedMatching +OMIM:602100 PKNOX1 skos:exactMatch hgnc.symbol:PKNOX1 semapv:UnspecifiedMatching OMIM:602100 PKNOX1 skos:exactMatch ncbigene:5316 semapv:UnspecifiedMatching -OMIM:602101 CLDN5 skos:exactMatch hgnc:CLDN5 semapv:UnspecifiedMatching +OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:2047 semapv:UnspecifiedMatching +OMIM:602101 CLDN5 skos:exactMatch hgnc.symbol:CLDN5 semapv:UnspecifiedMatching OMIM:602101 CLDN5 skos:exactMatch ncbigene:7122 semapv:UnspecifiedMatching OMIM:602102 SUPT5H skos:exactMatch UMLS:C0812268 semapv:UnspecifiedMatching -OMIM:602102 SUPT5H skos:exactMatch hgnc:SUPT5H semapv:UnspecifiedMatching +OMIM:602102 SUPT5H skos:exactMatch hgnc.symbol:11469 semapv:UnspecifiedMatching +OMIM:602102 SUPT5H skos:exactMatch hgnc.symbol:SUPT5H semapv:UnspecifiedMatching OMIM:602102 SUPT5H skos:exactMatch ncbigene:6829 semapv:UnspecifiedMatching -OMIM:602103 TRAPPC10 skos:exactMatch hgnc:TRAPPC10 semapv:UnspecifiedMatching +OMIM:602103 TRAPPC10 skos:exactMatch hgnc.symbol:11868 semapv:UnspecifiedMatching +OMIM:602103 TRAPPC10 skos:exactMatch hgnc.symbol:TRAPPC10 semapv:UnspecifiedMatching OMIM:602103 TRAPPC10 skos:exactMatch ncbigene:7109 semapv:UnspecifiedMatching -OMIM:602104 SH3BP2 skos:exactMatch hgnc:SH3BP2 semapv:UnspecifiedMatching +OMIM:602104 SH3BP2 skos:exactMatch hgnc.symbol:10825 semapv:UnspecifiedMatching +OMIM:602104 SH3BP2 skos:exactMatch hgnc.symbol:SH3BP2 semapv:UnspecifiedMatching OMIM:602104 SH3BP2 skos:exactMatch ncbigene:6452 semapv:UnspecifiedMatching -OMIM:602105 MSH4 skos:exactMatch hgnc:MSH4 semapv:UnspecifiedMatching +OMIM:602105 MSH4 skos:exactMatch hgnc.symbol:7327 semapv:UnspecifiedMatching +OMIM:602105 MSH4 skos:exactMatch hgnc.symbol:MSH4 semapv:UnspecifiedMatching OMIM:602105 MSH4 skos:exactMatch ncbigene:4438 semapv:UnspecifiedMatching -OMIM:602106 KCNJ15 skos:exactMatch hgnc:KCNJ15 semapv:UnspecifiedMatching +OMIM:602106 KCNJ15 skos:exactMatch hgnc.symbol:6261 semapv:UnspecifiedMatching +OMIM:602106 KCNJ15 skos:exactMatch hgnc.symbol:KCNJ15 semapv:UnspecifiedMatching OMIM:602106 KCNJ15 skos:exactMatch ncbigene:3772 semapv:UnspecifiedMatching -OMIM:602108 MATN2 skos:exactMatch hgnc:MATN2 semapv:UnspecifiedMatching +OMIM:602108 MATN2 skos:exactMatch hgnc.symbol:6908 semapv:UnspecifiedMatching +OMIM:602108 MATN2 skos:exactMatch hgnc.symbol:MATN2 semapv:UnspecifiedMatching OMIM:602108 MATN2 skos:exactMatch ncbigene:4147 semapv:UnspecifiedMatching OMIM:602109 MATN3 skos:exactMatch UMLS:C1417043 semapv:UnspecifiedMatching OMIM:602109 MATN3 skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching OMIM:602109 MATN3 skos:exactMatch UMLS:C1846843 semapv:UnspecifiedMatching OMIM:602109 MATN3 skos:exactMatch UMLS:C3887526 semapv:UnspecifiedMatching -OMIM:602109 MATN3 skos:exactMatch hgnc:MATN3 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch hgnc.symbol:6909 semapv:UnspecifiedMatching +OMIM:602109 MATN3 skos:exactMatch hgnc.symbol:MATN3 semapv:UnspecifiedMatching OMIM:602109 MATN3 skos:exactMatch ncbigene:4148 semapv:UnspecifiedMatching -OMIM:602110 SLC29A2 skos:exactMatch hgnc:SLC29A2 semapv:UnspecifiedMatching +OMIM:602110 SLC29A2 skos:exactMatch hgnc.symbol:11004 semapv:UnspecifiedMatching +OMIM:602110 SLC29A2 skos:exactMatch hgnc.symbol:SLC29A2 semapv:UnspecifiedMatching OMIM:602110 SLC29A2 skos:exactMatch ncbigene:3177 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch Orphanet:1040 semapv:UnspecifiedMatching +OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch Orphanet:93356 semapv:UnspecifiedMatching OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch UMLS:C1865832 semapv:UnspecifiedMatching OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch UMLS:C2748495 semapv:UnspecifiedMatching -OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch orphanet.ordo:1040 semapv:UnspecifiedMatching -OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia skos:exactMatch orphanet.ordo:93356 semapv:UnspecifiedMatching -OMIM:602112 MPPED1 skos:exactMatch hgnc:MPPED1 semapv:UnspecifiedMatching +OMIM:602112 MPPED1 skos:exactMatch hgnc.symbol:1306 semapv:UnspecifiedMatching +OMIM:602112 MPPED1 skos:exactMatch hgnc.symbol:MPPED1 semapv:UnspecifiedMatching OMIM:602112 MPPED1 skos:exactMatch ncbigene:758 semapv:UnspecifiedMatching -OMIM:602113 KMT2D skos:exactMatch hgnc:KMT2D semapv:UnspecifiedMatching +OMIM:602113 KMT2D skos:exactMatch hgnc.symbol:7133 semapv:UnspecifiedMatching +OMIM:602113 KMT2D skos:exactMatch hgnc.symbol:KMT2D semapv:UnspecifiedMatching OMIM:602113 KMT2D skos:exactMatch ncbigene:8085 semapv:UnspecifiedMatching -OMIM:602115 FGF10 skos:exactMatch hgnc:FGF10 semapv:UnspecifiedMatching +OMIM:602115 FGF10 skos:exactMatch hgnc.symbol:3666 semapv:UnspecifiedMatching +OMIM:602115 FGF10 skos:exactMatch hgnc.symbol:FGF10 semapv:UnspecifiedMatching OMIM:602115 FGF10 skos:exactMatch ncbigene:2255 semapv:UnspecifiedMatching -OMIM:602116 YEATS4 skos:exactMatch hgnc:YEATS4 semapv:UnspecifiedMatching +OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:24859 semapv:UnspecifiedMatching +OMIM:602116 YEATS4 skos:exactMatch hgnc.symbol:YEATS4 semapv:UnspecifiedMatching OMIM:602116 YEATS4 skos:exactMatch ncbigene:8089 semapv:UnspecifiedMatching -OMIM:602117 NDN skos:exactMatch hgnc:NDN semapv:UnspecifiedMatching +OMIM:602117 NDN skos:exactMatch hgnc.symbol:7675 semapv:UnspecifiedMatching +OMIM:602117 NDN skos:exactMatch hgnc.symbol:NDN semapv:UnspecifiedMatching OMIM:602117 NDN skos:exactMatch ncbigene:4692 semapv:UnspecifiedMatching -OMIM:602118 CHD1 skos:exactMatch hgnc:CHD1 semapv:UnspecifiedMatching +OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:1915 semapv:UnspecifiedMatching +OMIM:602118 CHD1 skos:exactMatch hgnc.symbol:CHD1 semapv:UnspecifiedMatching OMIM:602118 CHD1 skos:exactMatch ncbigene:1105 semapv:UnspecifiedMatching -OMIM:602119 CHD2 skos:exactMatch hgnc:CHD2 semapv:UnspecifiedMatching +OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:1917 semapv:UnspecifiedMatching +OMIM:602119 CHD2 skos:exactMatch hgnc.symbol:CHD2 semapv:UnspecifiedMatching OMIM:602119 CHD2 skos:exactMatch ncbigene:1106 semapv:UnspecifiedMatching -OMIM:602120 CHD3 skos:exactMatch hgnc:CHD3 semapv:UnspecifiedMatching +OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:1918 semapv:UnspecifiedMatching +OMIM:602120 CHD3 skos:exactMatch hgnc.symbol:CHD3 semapv:UnspecifiedMatching OMIM:602120 CHD3 skos:exactMatch ncbigene:1107 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1414047 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch UMLS:C1852282 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4225261 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch UMLS:C4479674 semapv:UnspecifiedMatching -OMIM:602121 DIAPH1 skos:exactMatch hgnc:DIAPH1 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:2876 semapv:UnspecifiedMatching +OMIM:602121 DIAPH1 skos:exactMatch hgnc.symbol:DIAPH1 semapv:UnspecifiedMatching OMIM:602121 DIAPH1 skos:exactMatch ncbigene:1729 semapv:UnspecifiedMatching -OMIM:602122 SRP72 skos:exactMatch hgnc:SRP72 semapv:UnspecifiedMatching +OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:11303 semapv:UnspecifiedMatching +OMIM:602122 SRP72 skos:exactMatch hgnc.symbol:SRP72 semapv:UnspecifiedMatching OMIM:602122 SRP72 skos:exactMatch ncbigene:6731 semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch UMLS:C1413102 semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching -OMIM:602123 CAMK2G skos:exactMatch hgnc:CAMK2G semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:1463 semapv:UnspecifiedMatching +OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:CAMK2G semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch ncbigene:818 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch UMLS:C1413629 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching -OMIM:602125 COX10 skos:exactMatch hgnc:COX10 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch hgnc.symbol:2260 semapv:UnspecifiedMatching +OMIM:602125 COX10 skos:exactMatch hgnc.symbol:COX10 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch ncbigene:1352 semapv:UnspecifiedMatching -OMIM:602126 ZBTB14 skos:exactMatch hgnc:ZBTB14 semapv:UnspecifiedMatching +OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:12860 semapv:UnspecifiedMatching +OMIM:602126 ZBTB14 skos:exactMatch hgnc.symbol:ZBTB14 semapv:UnspecifiedMatching OMIM:602126 ZBTB14 skos:exactMatch ncbigene:7541 semapv:UnspecifiedMatching -OMIM:602127 SMTN skos:exactMatch hgnc:SMTN semapv:UnspecifiedMatching +OMIM:602127 SMTN skos:exactMatch hgnc.symbol:11126 semapv:UnspecifiedMatching +OMIM:602127 SMTN skos:exactMatch hgnc.symbol:SMTN semapv:UnspecifiedMatching OMIM:602127 SMTN skos:exactMatch ncbigene:6525 semapv:UnspecifiedMatching -OMIM:602128 GAS2L1 skos:exactMatch hgnc:GAS2L1 semapv:UnspecifiedMatching +OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:16955 semapv:UnspecifiedMatching +OMIM:602128 GAS2L1 skos:exactMatch hgnc.symbol:GAS2L1 semapv:UnspecifiedMatching OMIM:602128 GAS2L1 skos:exactMatch ncbigene:10634 semapv:UnspecifiedMatching -OMIM:602129 MYO9B skos:exactMatch hgnc:MYO9B semapv:UnspecifiedMatching +OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:7609 semapv:UnspecifiedMatching +OMIM:602129 MYO9B skos:exactMatch hgnc.symbol:MYO9B semapv:UnspecifiedMatching OMIM:602129 MYO9B skos:exactMatch ncbigene:4650 semapv:UnspecifiedMatching -OMIM:602130 MAPKAPK3 skos:exactMatch hgnc:MAPKAPK3 semapv:UnspecifiedMatching +OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:6888 semapv:UnspecifiedMatching +OMIM:602130 MAPKAPK3 skos:exactMatch hgnc.symbol:MAPKAPK3 semapv:UnspecifiedMatching OMIM:602130 MAPKAPK3 skos:exactMatch ncbigene:7867 semapv:UnspecifiedMatching -OMIM:602131 PHLDA2 skos:exactMatch hgnc:PHLDA2 semapv:UnspecifiedMatching +OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:12385 semapv:UnspecifiedMatching +OMIM:602131 PHLDA2 skos:exactMatch hgnc.symbol:PHLDA2 semapv:UnspecifiedMatching OMIM:602131 PHLDA2 skos:exactMatch ncbigene:7262 semapv:UnspecifiedMatching OMIM:602132 MIA2 skos:exactMatch UMLS:C1425512 semapv:UnspecifiedMatching -OMIM:602132 MIA2 skos:exactMatch hgnc:MIA2 semapv:UnspecifiedMatching +OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:18432 semapv:UnspecifiedMatching +OMIM:602132 MIA2 skos:exactMatch hgnc.symbol:MIA2 semapv:UnspecifiedMatching OMIM:602132 MIA2 skos:exactMatch ncbigene:4253 semapv:UnspecifiedMatching -OMIM:602133 PFAS skos:exactMatch hgnc:PFAS semapv:UnspecifiedMatching +OMIM:602133 PFAS skos:exactMatch hgnc.symbol:8863 semapv:UnspecifiedMatching +OMIM:602133 PFAS skos:exactMatch hgnc.symbol:PFAS semapv:UnspecifiedMatching OMIM:602133 PFAS skos:exactMatch ncbigene:5198 semapv:UnspecifiedMatching -OMIM:602135 DNALI1 skos:exactMatch hgnc:DNALI1 semapv:UnspecifiedMatching +OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:14353 semapv:UnspecifiedMatching +OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:DNALI1 semapv:UnspecifiedMatching OMIM:602135 DNALI1 skos:exactMatch ncbigene:7802 semapv:UnspecifiedMatching -OMIM:602136 PEX1 skos:exactMatch hgnc:PEX1 semapv:UnspecifiedMatching +OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:8850 semapv:UnspecifiedMatching +OMIM:602136 PEX1 skos:exactMatch hgnc.symbol:PEX1 semapv:UnspecifiedMatching OMIM:602136 PEX1 skos:exactMatch ncbigene:5189 semapv:UnspecifiedMatching OMIM:602137 NDUFA2 skos:exactMatch UMLS:C1417622 semapv:UnspecifiedMatching OMIM:602137 NDUFA2 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching -OMIM:602137 NDUFA2 skos:exactMatch hgnc:NDUFA2 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:7685 semapv:UnspecifiedMatching +OMIM:602137 NDUFA2 skos:exactMatch hgnc.symbol:NDUFA2 semapv:UnspecifiedMatching OMIM:602137 NDUFA2 skos:exactMatch ncbigene:4695 semapv:UnspecifiedMatching -OMIM:602138 NDUFA6 skos:exactMatch hgnc:NDUFA6 semapv:UnspecifiedMatching +OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:7690 semapv:UnspecifiedMatching +OMIM:602138 NDUFA6 skos:exactMatch hgnc.symbol:NDUFA6 semapv:UnspecifiedMatching OMIM:602138 NDUFA6 skos:exactMatch ncbigene:4700 semapv:UnspecifiedMatching -OMIM:602139 NDUFA7 skos:exactMatch hgnc:NDUFA7 semapv:UnspecifiedMatching +OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:7691 semapv:UnspecifiedMatching +OMIM:602139 NDUFA7 skos:exactMatch hgnc.symbol:NDUFA7 semapv:UnspecifiedMatching OMIM:602139 NDUFA7 skos:exactMatch ncbigene:4701 semapv:UnspecifiedMatching -OMIM:602140 NDUFB8 skos:exactMatch hgnc:NDUFB8 semapv:UnspecifiedMatching +OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:7703 semapv:UnspecifiedMatching +OMIM:602140 NDUFB8 skos:exactMatch hgnc.symbol:NDUFB8 semapv:UnspecifiedMatching OMIM:602140 NDUFB8 skos:exactMatch ncbigene:4714 semapv:UnspecifiedMatching -OMIM:602141 NDUFS8 skos:exactMatch hgnc:NDUFS8 semapv:UnspecifiedMatching +OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:7715 semapv:UnspecifiedMatching +OMIM:602141 NDUFS8 skos:exactMatch hgnc.symbol:NDUFS8 semapv:UnspecifiedMatching OMIM:602141 NDUFS8 skos:exactMatch ncbigene:4728 semapv:UnspecifiedMatching -OMIM:602142 PLCD1 skos:exactMatch hgnc:PLCD1 semapv:UnspecifiedMatching +OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:9060 semapv:UnspecifiedMatching +OMIM:602142 PLCD1 skos:exactMatch hgnc.symbol:PLCD1 semapv:UnspecifiedMatching OMIM:602142 PLCD1 skos:exactMatch ncbigene:5333 semapv:UnspecifiedMatching -OMIM:602143 TP53BP2 skos:exactMatch hgnc:TP53BP2 semapv:UnspecifiedMatching +OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:12000 semapv:UnspecifiedMatching +OMIM:602143 TP53BP2 skos:exactMatch hgnc.symbol:TP53BP2 semapv:UnspecifiedMatching OMIM:602143 TP53BP2 skos:exactMatch ncbigene:7159 semapv:UnspecifiedMatching -OMIM:602144 BRDT skos:exactMatch hgnc:BRDT semapv:UnspecifiedMatching +OMIM:602144 BRDT skos:exactMatch hgnc.symbol:1105 semapv:UnspecifiedMatching +OMIM:602144 BRDT skos:exactMatch hgnc.symbol:BRDT semapv:UnspecifiedMatching OMIM:602144 BRDT skos:exactMatch ncbigene:676 semapv:UnspecifiedMatching -OMIM:602145 PA2G4 skos:exactMatch hgnc:PA2G4 semapv:UnspecifiedMatching +OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:8550 semapv:UnspecifiedMatching +OMIM:602145 PA2G4 skos:exactMatch hgnc.symbol:PA2G4 semapv:UnspecifiedMatching OMIM:602145 PA2G4 skos:exactMatch ncbigene:5036 semapv:UnspecifiedMatching -OMIM:602146 LHX4 skos:exactMatch hgnc:LHX4 semapv:UnspecifiedMatching +OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:21734 semapv:UnspecifiedMatching +OMIM:602146 LHX4 skos:exactMatch hgnc.symbol:LHX4 semapv:UnspecifiedMatching OMIM:602146 LHX4 skos:exactMatch ncbigene:89884 semapv:UnspecifiedMatching -OMIM:602148 SOX1 skos:exactMatch hgnc:SOX1 semapv:UnspecifiedMatching +OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:11189 semapv:UnspecifiedMatching +OMIM:602148 SOX1 skos:exactMatch hgnc.symbol:SOX1 semapv:UnspecifiedMatching OMIM:602148 SOX1 skos:exactMatch ncbigene:6656 semapv:UnspecifiedMatching -OMIM:602149 PITX1 skos:exactMatch hgnc:PITX1 semapv:UnspecifiedMatching +OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:9004 semapv:UnspecifiedMatching +OMIM:602149 PITX1 skos:exactMatch hgnc.symbol:PITX1 semapv:UnspecifiedMatching OMIM:602149 PITX1 skos:exactMatch ncbigene:5307 semapv:UnspecifiedMatching -OMIM:602150 SNAI2 skos:exactMatch hgnc:SNAI2 semapv:UnspecifiedMatching +OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:11094 semapv:UnspecifiedMatching +OMIM:602150 SNAI2 skos:exactMatch hgnc.symbol:SNAI2 semapv:UnspecifiedMatching OMIM:602150 SNAI2 skos:exactMatch ncbigene:6591 semapv:UnspecifiedMatching -OMIM:602151 DVL2 skos:exactMatch hgnc:DVL2 semapv:UnspecifiedMatching +OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:3086 semapv:UnspecifiedMatching +OMIM:602151 DVL2 skos:exactMatch hgnc.symbol:DVL2 semapv:UnspecifiedMatching OMIM:602151 DVL2 skos:exactMatch ncbigene:1856 semapv:UnspecifiedMatching -OMIM:602153 KRT81 skos:exactMatch hgnc:KRT81 semapv:UnspecifiedMatching +OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:6458 semapv:UnspecifiedMatching +OMIM:602153 KRT81 skos:exactMatch hgnc.symbol:KRT81 semapv:UnspecifiedMatching OMIM:602153 KRT81 skos:exactMatch ncbigene:3887 semapv:UnspecifiedMatching OMIM:602154 noncoding transcript 1n t cells skos:exactMatch ncbigene:7956 semapv:UnspecifiedMatching -OMIM:602155 UBXN8 skos:exactMatch hgnc:UBXN8 semapv:UnspecifiedMatching +OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:30307 semapv:UnspecifiedMatching +OMIM:602155 UBXN8 skos:exactMatch hgnc.symbol:UBXN8 semapv:UnspecifiedMatching OMIM:602155 UBXN8 skos:exactMatch ncbigene:7993 semapv:UnspecifiedMatching -OMIM:602157 NOVA1 skos:exactMatch hgnc:NOVA1 semapv:UnspecifiedMatching +OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:7886 semapv:UnspecifiedMatching +OMIM:602157 NOVA1 skos:exactMatch hgnc.symbol:NOVA1 semapv:UnspecifiedMatching OMIM:602157 NOVA1 skos:exactMatch ncbigene:4857 semapv:UnspecifiedMatching -OMIM:602158 CLNS1A skos:exactMatch hgnc:CLNS1A semapv:UnspecifiedMatching +OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:2080 semapv:UnspecifiedMatching +OMIM:602158 CLNS1A skos:exactMatch hgnc.symbol:CLNS1A semapv:UnspecifiedMatching OMIM:602158 CLNS1A skos:exactMatch ncbigene:1207 semapv:UnspecifiedMatching -OMIM:602159 CORO2A skos:exactMatch hgnc:CORO2A semapv:UnspecifiedMatching +OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:2255 semapv:UnspecifiedMatching +OMIM:602159 CORO2A skos:exactMatch hgnc.symbol:CORO2A semapv:UnspecifiedMatching OMIM:602159 CORO2A skos:exactMatch ncbigene:7464 semapv:UnspecifiedMatching -OMIM:602160 TFDP2 skos:exactMatch hgnc:TFDP2 semapv:UnspecifiedMatching +OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:11751 semapv:UnspecifiedMatching +OMIM:602160 TFDP2 skos:exactMatch hgnc.symbol:TFDP2 semapv:UnspecifiedMatching OMIM:602160 TFDP2 skos:exactMatch ncbigene:7029 semapv:UnspecifiedMatching -OMIM:602161 PSME2 skos:exactMatch hgnc:PSME2 semapv:UnspecifiedMatching +OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:9569 semapv:UnspecifiedMatching +OMIM:602161 PSME2 skos:exactMatch hgnc.symbol:PSME2 semapv:UnspecifiedMatching OMIM:602161 PSME2 skos:exactMatch ncbigene:5721 semapv:UnspecifiedMatching -OMIM:602162 SYCP1 skos:exactMatch hgnc:SYCP1 semapv:UnspecifiedMatching +OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:11487 semapv:UnspecifiedMatching +OMIM:602162 SYCP1 skos:exactMatch hgnc.symbol:SYCP1 semapv:UnspecifiedMatching OMIM:602162 SYCP1 skos:exactMatch ncbigene:6847 semapv:UnspecifiedMatching -OMIM:602163 UBE2E2 skos:exactMatch hgnc:UBE2E2 semapv:UnspecifiedMatching +OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:12478 semapv:UnspecifiedMatching +OMIM:602163 UBE2E2 skos:exactMatch hgnc.symbol:UBE2E2 semapv:UnspecifiedMatching OMIM:602163 UBE2E2 skos:exactMatch ncbigene:7325 semapv:UnspecifiedMatching -OMIM:602164 HTR4 skos:exactMatch hgnc:HTR4 semapv:UnspecifiedMatching +OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:5299 semapv:UnspecifiedMatching +OMIM:602164 HTR4 skos:exactMatch hgnc.symbol:HTR4 semapv:UnspecifiedMatching OMIM:602164 HTR4 skos:exactMatch ncbigene:3360 semapv:UnspecifiedMatching -OMIM:602165 TRIM27 skos:exactMatch hgnc:TRIM27 semapv:UnspecifiedMatching +OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:9975 semapv:UnspecifiedMatching +OMIM:602165 TRIM27 skos:exactMatch hgnc.symbol:TRIM27 semapv:UnspecifiedMatching OMIM:602165 TRIM27 skos:exactMatch ncbigene:5987 semapv:UnspecifiedMatching OMIM:602166 AP3B2 skos:exactMatch UMLS:C1412447 semapv:UnspecifiedMatching OMIM:602166 AP3B2 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching -OMIM:602166 AP3B2 skos:exactMatch hgnc:AP3B2 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:567 semapv:UnspecifiedMatching +OMIM:602166 AP3B2 skos:exactMatch hgnc.symbol:AP3B2 semapv:UnspecifiedMatching OMIM:602166 AP3B2 skos:exactMatch ncbigene:8120 semapv:UnspecifiedMatching -OMIM:602167 ESRRB skos:exactMatch hgnc:ESRRB semapv:UnspecifiedMatching +OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:3473 semapv:UnspecifiedMatching +OMIM:602167 ESRRB skos:exactMatch hgnc.symbol:ESRRB semapv:UnspecifiedMatching OMIM:602167 ESRRB skos:exactMatch ncbigene:2103 semapv:UnspecifiedMatching -OMIM:602168 VRK1 skos:exactMatch hgnc:VRK1 semapv:UnspecifiedMatching +OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:12718 semapv:UnspecifiedMatching +OMIM:602168 VRK1 skos:exactMatch hgnc.symbol:VRK1 semapv:UnspecifiedMatching OMIM:602168 VRK1 skos:exactMatch ncbigene:7443 semapv:UnspecifiedMatching -OMIM:602169 VRK2 skos:exactMatch hgnc:VRK2 semapv:UnspecifiedMatching +OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:12719 semapv:UnspecifiedMatching +OMIM:602169 VRK2 skos:exactMatch hgnc.symbol:VRK2 semapv:UnspecifiedMatching OMIM:602169 VRK2 skos:exactMatch ncbigene:7444 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch UMLS:C1417530 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch UMLS:C3549870 semapv:UnspecifiedMatching -OMIM:602170 MYD88 skos:exactMatch hgnc:MYD88 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:7562 semapv:UnspecifiedMatching +OMIM:602170 MYD88 skos:exactMatch hgnc.symbol:MYD88 semapv:UnspecifiedMatching OMIM:602170 MYD88 skos:exactMatch ncbigene:4615 semapv:UnspecifiedMatching -OMIM:602171 GPA33 skos:exactMatch hgnc:GPA33 semapv:UnspecifiedMatching +OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:4445 semapv:UnspecifiedMatching +OMIM:602171 GPA33 skos:exactMatch hgnc.symbol:GPA33 semapv:UnspecifiedMatching OMIM:602171 GPA33 skos:exactMatch ncbigene:10223 semapv:UnspecifiedMatching -OMIM:602172 CYP8B1 skos:exactMatch hgnc:CYP8B1 semapv:UnspecifiedMatching +OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:2653 semapv:UnspecifiedMatching +OMIM:602172 CYP8B1 skos:exactMatch hgnc.symbol:CYP8B1 semapv:UnspecifiedMatching OMIM:602172 CYP8B1 skos:exactMatch ncbigene:1582 semapv:UnspecifiedMatching -OMIM:602173 SEC62 skos:exactMatch hgnc:SEC62 semapv:UnspecifiedMatching +OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:11846 semapv:UnspecifiedMatching +OMIM:602173 SEC62 skos:exactMatch hgnc.symbol:SEC62 semapv:UnspecifiedMatching OMIM:602173 SEC62 skos:exactMatch ncbigene:7095 semapv:UnspecifiedMatching -OMIM:602174 GPR25 skos:exactMatch hgnc:GPR25 semapv:UnspecifiedMatching +OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:4480 semapv:UnspecifiedMatching +OMIM:602174 GPR25 skos:exactMatch hgnc.symbol:GPR25 semapv:UnspecifiedMatching OMIM:602174 GPR25 skos:exactMatch ncbigene:2848 semapv:UnspecifiedMatching -OMIM:602175 PSMB2 skos:exactMatch hgnc:PSMB2 semapv:UnspecifiedMatching +OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:9539 semapv:UnspecifiedMatching +OMIM:602175 PSMB2 skos:exactMatch hgnc.symbol:PSMB2 semapv:UnspecifiedMatching OMIM:602175 PSMB2 skos:exactMatch ncbigene:5690 semapv:UnspecifiedMatching -OMIM:602176 PSMB3 skos:exactMatch hgnc:PSMB3 semapv:UnspecifiedMatching +OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:9540 semapv:UnspecifiedMatching +OMIM:602176 PSMB3 skos:exactMatch hgnc.symbol:PSMB3 semapv:UnspecifiedMatching OMIM:602176 PSMB3 skos:exactMatch ncbigene:5691 semapv:UnspecifiedMatching -OMIM:602177 PSMB4 skos:exactMatch hgnc:PSMB4 semapv:UnspecifiedMatching +OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:9541 semapv:UnspecifiedMatching +OMIM:602177 PSMB4 skos:exactMatch hgnc.symbol:PSMB4 semapv:UnspecifiedMatching OMIM:602177 PSMB4 skos:exactMatch ncbigene:5692 semapv:UnspecifiedMatching -OMIM:602178 CHAD skos:exactMatch hgnc:CHAD semapv:UnspecifiedMatching +OMIM:602178 CHAD skos:exactMatch hgnc.symbol:1909 semapv:UnspecifiedMatching +OMIM:602178 CHAD skos:exactMatch hgnc.symbol:CHAD semapv:UnspecifiedMatching OMIM:602178 CHAD skos:exactMatch ncbigene:1101 semapv:UnspecifiedMatching -OMIM:602179 HSPB2 skos:exactMatch hgnc:HSPB2 semapv:UnspecifiedMatching +OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:5247 semapv:UnspecifiedMatching +OMIM:602179 HSPB2 skos:exactMatch hgnc.symbol:HSPB2 semapv:UnspecifiedMatching OMIM:602179 HSPB2 skos:exactMatch ncbigene:3316 semapv:UnspecifiedMatching -OMIM:602180 SIPA1 skos:exactMatch hgnc:SIPA1 semapv:UnspecifiedMatching +OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:10885 semapv:UnspecifiedMatching +OMIM:602180 SIPA1 skos:exactMatch hgnc.symbol:SIPA1 semapv:UnspecifiedMatching OMIM:602180 SIPA1 skos:exactMatch ncbigene:6494 semapv:UnspecifiedMatching -OMIM:602181 SND1 skos:exactMatch hgnc:SND1 semapv:UnspecifiedMatching +OMIM:602181 SND1 skos:exactMatch hgnc.symbol:30646 semapv:UnspecifiedMatching +OMIM:602181 SND1 skos:exactMatch hgnc.symbol:SND1 semapv:UnspecifiedMatching OMIM:602181 SND1 skos:exactMatch ncbigene:27044 semapv:UnspecifiedMatching -OMIM:602182 ENPP3 skos:exactMatch hgnc:ENPP3 semapv:UnspecifiedMatching +OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:3358 semapv:UnspecifiedMatching +OMIM:602182 ENPP3 skos:exactMatch hgnc.symbol:ENPP3 semapv:UnspecifiedMatching OMIM:602182 ENPP3 skos:exactMatch ncbigene:5169 semapv:UnspecifiedMatching -OMIM:602183 NKX3-2 skos:exactMatch hgnc:NKX3-2 semapv:UnspecifiedMatching +OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:951 semapv:UnspecifiedMatching +OMIM:602183 NKX3-2 skos:exactMatch hgnc.symbol:NKX3-2 semapv:UnspecifiedMatching OMIM:602183 NKX3-2 skos:exactMatch ncbigene:579 semapv:UnspecifiedMatching -OMIM:602184 NDUFV3 skos:exactMatch hgnc:NDUFV3 semapv:UnspecifiedMatching +OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:7719 semapv:UnspecifiedMatching +OMIM:602184 NDUFV3 skos:exactMatch hgnc.symbol:NDUFV3 semapv:UnspecifiedMatching OMIM:602184 NDUFV3 skos:exactMatch ncbigene:4731 semapv:UnspecifiedMatching -OMIM:602186 VGF skos:exactMatch hgnc:VGF semapv:UnspecifiedMatching +OMIM:602186 VGF skos:exactMatch hgnc.symbol:12684 semapv:UnspecifiedMatching +OMIM:602186 VGF skos:exactMatch hgnc.symbol:VGF semapv:UnspecifiedMatching OMIM:602186 VGF skos:exactMatch ncbigene:7425 semapv:UnspecifiedMatching -OMIM:602187 ZNF195 skos:exactMatch hgnc:ZNF195 semapv:UnspecifiedMatching +OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:12986 semapv:UnspecifiedMatching +OMIM:602187 ZNF195 skos:exactMatch hgnc.symbol:ZNF195 semapv:UnspecifiedMatching OMIM:602187 ZNF195 skos:exactMatch ncbigene:7748 semapv:UnspecifiedMatching -OMIM:602188 EPHA4 skos:exactMatch hgnc:EPHA4 semapv:UnspecifiedMatching +OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:3388 semapv:UnspecifiedMatching +OMIM:602188 EPHA4 skos:exactMatch hgnc.symbol:EPHA4 semapv:UnspecifiedMatching OMIM:602188 EPHA4 skos:exactMatch ncbigene:2043 semapv:UnspecifiedMatching -OMIM:602189 RGS3 skos:exactMatch hgnc:RGS3 semapv:UnspecifiedMatching +OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:9999 semapv:UnspecifiedMatching +OMIM:602189 RGS3 skos:exactMatch hgnc.symbol:RGS3 semapv:UnspecifiedMatching OMIM:602189 RGS3 skos:exactMatch ncbigene:5998 semapv:UnspecifiedMatching -OMIM:602190 EPHA7 skos:exactMatch hgnc:EPHA7 semapv:UnspecifiedMatching +OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:3390 semapv:UnspecifiedMatching +OMIM:602190 EPHA7 skos:exactMatch hgnc.symbol:EPHA7 semapv:UnspecifiedMatching OMIM:602190 EPHA7 skos:exactMatch ncbigene:2045 semapv:UnspecifiedMatching -OMIM:602191 ELF3 skos:exactMatch hgnc:ELF3 semapv:UnspecifiedMatching +OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:3318 semapv:UnspecifiedMatching +OMIM:602191 ELF3 skos:exactMatch hgnc.symbol:ELF3 semapv:UnspecifiedMatching OMIM:602191 ELF3 skos:exactMatch ncbigene:1999 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch UMLS:C0406811 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch UMLS:C1412181 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch UMLS:C4016772 semapv:UnspecifiedMatching -OMIM:602192 ADAM10 skos:exactMatch hgnc:ADAM10 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:188 semapv:UnspecifiedMatching +OMIM:602192 ADAM10 skos:exactMatch hgnc.symbol:ADAM10 semapv:UnspecifiedMatching OMIM:602192 ADAM10 skos:exactMatch ncbigene:102 semapv:UnspecifiedMatching -OMIM:602193 SLC29A1 skos:exactMatch hgnc:SLC29A1 semapv:UnspecifiedMatching +OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:11003 semapv:UnspecifiedMatching +OMIM:602193 SLC29A1 skos:exactMatch hgnc.symbol:SLC29A1 semapv:UnspecifiedMatching OMIM:602193 SLC29A1 skos:exactMatch ncbigene:2030 semapv:UnspecifiedMatching -OMIM:602194 HTRA1 skos:exactMatch hgnc:HTRA1 semapv:UnspecifiedMatching +OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:9476 semapv:UnspecifiedMatching +OMIM:602194 HTRA1 skos:exactMatch hgnc.symbol:HTRA1 semapv:UnspecifiedMatching OMIM:602194 HTRA1 skos:exactMatch ncbigene:5654 semapv:UnspecifiedMatching -OMIM:602195 HSPB1 skos:exactMatch hgnc:HSPB1 semapv:UnspecifiedMatching +OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:5246 semapv:UnspecifiedMatching +OMIM:602195 HSPB1 skos:exactMatch hgnc.symbol:HSPB1 semapv:UnspecifiedMatching OMIM:602195 HSPB1 skos:exactMatch ncbigene:3315 semapv:UnspecifiedMatching -OMIM:602198 CDK2AP1 skos:exactMatch hgnc:CDK2AP1 semapv:UnspecifiedMatching +OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:14002 semapv:UnspecifiedMatching +OMIM:602198 CDK2AP1 skos:exactMatch hgnc.symbol:CDK2AP1 semapv:UnspecifiedMatching OMIM:602198 CDK2AP1 skos:exactMatch ncbigene:8099 semapv:UnspecifiedMatching -OMIM:602201 ECM1 skos:exactMatch hgnc:ECM1 semapv:UnspecifiedMatching +OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:3153 semapv:UnspecifiedMatching +OMIM:602201 ECM1 skos:exactMatch hgnc.symbol:ECM1 semapv:UnspecifiedMatching OMIM:602201 ECM1 skos:exactMatch ncbigene:1893 semapv:UnspecifiedMatching -OMIM:602202 DDOST skos:exactMatch hgnc:DDOST semapv:UnspecifiedMatching +OMIM:602202 DDOST skos:exactMatch hgnc.symbol:2728 semapv:UnspecifiedMatching +OMIM:602202 DDOST skos:exactMatch hgnc.symbol:DDOST semapv:UnspecifiedMatching OMIM:602202 DDOST skos:exactMatch ncbigene:1650 semapv:UnspecifiedMatching -OMIM:602203 SLN skos:exactMatch hgnc:SLN semapv:UnspecifiedMatching +OMIM:602203 SLN skos:exactMatch hgnc.symbol:11089 semapv:UnspecifiedMatching +OMIM:602203 SLN skos:exactMatch hgnc.symbol:SLN semapv:UnspecifiedMatching OMIM:602203 SLN skos:exactMatch ncbigene:6588 semapv:UnspecifiedMatching -OMIM:602204 BICD1 skos:exactMatch hgnc:BICD1 semapv:UnspecifiedMatching +OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:1049 semapv:UnspecifiedMatching +OMIM:602204 BICD1 skos:exactMatch hgnc.symbol:BICD1 semapv:UnspecifiedMatching OMIM:602204 BICD1 skos:exactMatch ncbigene:636 semapv:UnspecifiedMatching -OMIM:602206 RAB17 skos:exactMatch hgnc:RAB17 semapv:UnspecifiedMatching +OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:16523 semapv:UnspecifiedMatching +OMIM:602206 RAB17 skos:exactMatch hgnc.symbol:RAB17 semapv:UnspecifiedMatching OMIM:602206 RAB17 skos:exactMatch ncbigene:64284 semapv:UnspecifiedMatching -OMIM:602207 RAB18 skos:exactMatch hgnc:RAB18 semapv:UnspecifiedMatching +OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:14244 semapv:UnspecifiedMatching +OMIM:602207 RAB18 skos:exactMatch hgnc.symbol:RAB18 semapv:UnspecifiedMatching OMIM:602207 RAB18 skos:exactMatch ncbigene:22931 semapv:UnspecifiedMatching -OMIM:602208 KCNJ10 skos:exactMatch hgnc:KCNJ10 semapv:UnspecifiedMatching +OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:6256 semapv:UnspecifiedMatching +OMIM:602208 KCNJ10 skos:exactMatch hgnc.symbol:KCNJ10 semapv:UnspecifiedMatching OMIM:602208 KCNJ10 skos:exactMatch ncbigene:3766 semapv:UnspecifiedMatching OMIM:602209 RREB1 skos:exactMatch UMLS:C1419758 semapv:UnspecifiedMatching -OMIM:602209 RREB1 skos:exactMatch hgnc:RREB1 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:10449 semapv:UnspecifiedMatching +OMIM:602209 RREB1 skos:exactMatch hgnc.symbol:RREB1 semapv:UnspecifiedMatching OMIM:602209 RREB1 skos:exactMatch ncbigene:6239 semapv:UnspecifiedMatching -OMIM:602210 EIF3E skos:exactMatch hgnc:EIF3E semapv:UnspecifiedMatching +OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:3277 semapv:UnspecifiedMatching +OMIM:602210 EIF3E skos:exactMatch hgnc.symbol:EIF3E semapv:UnspecifiedMatching OMIM:602210 EIF3E skos:exactMatch ncbigene:3646 semapv:UnspecifiedMatching OMIM:602211 FOXD2 skos:exactMatch UMLS:C1414671 semapv:UnspecifiedMatching -OMIM:602211 FOXD2 skos:exactMatch hgnc:FOXD2 semapv:UnspecifiedMatching +OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:3803 semapv:UnspecifiedMatching +OMIM:602211 FOXD2 skos:exactMatch hgnc.symbol:FOXD2 semapv:UnspecifiedMatching OMIM:602211 FOXD2 skos:exactMatch ncbigene:2306 semapv:UnspecifiedMatching -OMIM:602212 SIAH1 skos:exactMatch hgnc:SIAH1 semapv:UnspecifiedMatching +OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:10857 semapv:UnspecifiedMatching +OMIM:602212 SIAH1 skos:exactMatch hgnc.symbol:SIAH1 semapv:UnspecifiedMatching OMIM:602212 SIAH1 skos:exactMatch ncbigene:6477 semapv:UnspecifiedMatching -OMIM:602213 SIAH2 skos:exactMatch hgnc:SIAH2 semapv:UnspecifiedMatching +OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:10858 semapv:UnspecifiedMatching +OMIM:602213 SIAH2 skos:exactMatch hgnc.symbol:SIAH2 semapv:UnspecifiedMatching OMIM:602213 SIAH2 skos:exactMatch ncbigene:6478 semapv:UnspecifiedMatching -OMIM:602214 CSNK1G2 skos:exactMatch hgnc:CSNK1G2 semapv:UnspecifiedMatching +OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:2455 semapv:UnspecifiedMatching +OMIM:602214 CSNK1G2 skos:exactMatch hgnc.symbol:CSNK1G2 semapv:UnspecifiedMatching OMIM:602214 CSNK1G2 skos:exactMatch ncbigene:1455 semapv:UnspecifiedMatching -OMIM:602215 DEFB4A skos:exactMatch hgnc:DEFB4A semapv:UnspecifiedMatching +OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:2767 semapv:UnspecifiedMatching +OMIM:602215 DEFB4A skos:exactMatch hgnc.symbol:DEFB4A semapv:UnspecifiedMatching OMIM:602215 DEFB4A skos:exactMatch ncbigene:1673 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C0031269 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C0694883 semapv:UnspecifiedMatching @@ -13401,1289 +18130,1849 @@ OMIM:602216 STK11 skos:exactMatch UMLS:C3836561 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C4016283 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch UMLS:C4016776 semapv:UnspecifiedMatching -OMIM:602216 STK11 skos:exactMatch hgnc:STK11 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch hgnc.symbol:11389 semapv:UnspecifiedMatching +OMIM:602216 STK11 skos:exactMatch hgnc.symbol:STK11 semapv:UnspecifiedMatching OMIM:602216 STK11 skos:exactMatch ncbigene:6794 semapv:UnspecifiedMatching -OMIM:602217 SDCBP skos:exactMatch hgnc:SDCBP semapv:UnspecifiedMatching +OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:10662 semapv:UnspecifiedMatching +OMIM:602217 SDCBP skos:exactMatch hgnc.symbol:SDCBP semapv:UnspecifiedMatching OMIM:602217 SDCBP skos:exactMatch ncbigene:6386 semapv:UnspecifiedMatching -OMIM:602218 SALL1 skos:exactMatch hgnc:SALL1 semapv:UnspecifiedMatching +OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:10524 semapv:UnspecifiedMatching +OMIM:602218 SALL1 skos:exactMatch hgnc.symbol:SALL1 semapv:UnspecifiedMatching OMIM:602218 SALL1 skos:exactMatch ncbigene:6299 semapv:UnspecifiedMatching -OMIM:602219 SALL2 skos:exactMatch hgnc:SALL2 semapv:UnspecifiedMatching +OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:10526 semapv:UnspecifiedMatching +OMIM:602219 SALL2 skos:exactMatch hgnc.symbol:SALL2 semapv:UnspecifiedMatching OMIM:602219 SALL2 skos:exactMatch ncbigene:6297 semapv:UnspecifiedMatching -OMIM:602220 RASL10A skos:exactMatch hgnc:RASL10A semapv:UnspecifiedMatching +OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:16954 semapv:UnspecifiedMatching +OMIM:602220 RASL10A skos:exactMatch hgnc.symbol:RASL10A semapv:UnspecifiedMatching OMIM:602220 RASL10A skos:exactMatch ncbigene:10633 semapv:UnspecifiedMatching -OMIM:602221 ZMYM2 skos:exactMatch hgnc:ZMYM2 semapv:UnspecifiedMatching +OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:12989 semapv:UnspecifiedMatching +OMIM:602221 ZMYM2 skos:exactMatch hgnc.symbol:ZMYM2 semapv:UnspecifiedMatching OMIM:602221 ZMYM2 skos:exactMatch ncbigene:7750 semapv:UnspecifiedMatching -OMIM:602223 EIF4EBP1 skos:exactMatch hgnc:EIF4EBP1 semapv:UnspecifiedMatching +OMIM:602223 EIF4EBP1 skos:exactMatch hgnc.symbol:3288 semapv:UnspecifiedMatching +OMIM:602223 EIF4EBP1 skos:exactMatch hgnc.symbol:EIF4EBP1 semapv:UnspecifiedMatching OMIM:602223 EIF4EBP1 skos:exactMatch ncbigene:1978 semapv:UnspecifiedMatching -OMIM:602224 EIF4EBP2 skos:exactMatch hgnc:EIF4EBP2 semapv:UnspecifiedMatching +OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:3289 semapv:UnspecifiedMatching +OMIM:602224 EIF4EBP2 skos:exactMatch hgnc.symbol:EIF4EBP2 semapv:UnspecifiedMatching OMIM:602224 EIF4EBP2 skos:exactMatch ncbigene:1979 semapv:UnspecifiedMatching -OMIM:602225 CRX skos:exactMatch hgnc:CRX semapv:UnspecifiedMatching +OMIM:602225 CRX skos:exactMatch hgnc.symbol:2383 semapv:UnspecifiedMatching +OMIM:602225 CRX skos:exactMatch hgnc.symbol:CRX semapv:UnspecifiedMatching OMIM:602225 CRX skos:exactMatch ncbigene:1406 semapv:UnspecifiedMatching -OMIM:602226 CD180 skos:exactMatch hgnc:CD180 semapv:UnspecifiedMatching +OMIM:602226 CD180 skos:exactMatch hgnc.symbol:6726 semapv:UnspecifiedMatching +OMIM:602226 CD180 skos:exactMatch hgnc.symbol:CD180 semapv:UnspecifiedMatching OMIM:602226 CD180 skos:exactMatch ncbigene:4064 semapv:UnspecifiedMatching -OMIM:602227 CCL19 skos:exactMatch hgnc:CCL19 semapv:UnspecifiedMatching +OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:10617 semapv:UnspecifiedMatching +OMIM:602227 CCL19 skos:exactMatch hgnc.symbol:CCL19 semapv:UnspecifiedMatching OMIM:602227 CCL19 skos:exactMatch ncbigene:6363 semapv:UnspecifiedMatching OMIM:602228 TCF7L2 skos:exactMatch UMLS:C1420644 semapv:UnspecifiedMatching OMIM:602228 TCF7L2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:602228 TCF7L2 skos:exactMatch hgnc:TCF7L2 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:11641 semapv:UnspecifiedMatching +OMIM:602228 TCF7L2 skos:exactMatch hgnc.symbol:TCF7L2 semapv:UnspecifiedMatching OMIM:602228 TCF7L2 skos:exactMatch ncbigene:6934 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C1420317 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C1836727 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C2748472 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C2750452 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch UMLS:C4016778 semapv:UnspecifiedMatching -OMIM:602229 SOX10 skos:exactMatch hgnc:SOX10 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:11190 semapv:UnspecifiedMatching +OMIM:602229 SOX10 skos:exactMatch hgnc.symbol:SOX10 semapv:UnspecifiedMatching OMIM:602229 SOX10 skos:exactMatch ncbigene:6663 semapv:UnspecifiedMatching -OMIM:602230 SH3BGR skos:exactMatch hgnc:SH3BGR semapv:UnspecifiedMatching +OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:10822 semapv:UnspecifiedMatching +OMIM:602230 SH3BGR skos:exactMatch hgnc.symbol:SH3BGR semapv:UnspecifiedMatching OMIM:602230 SH3BGR skos:exactMatch ncbigene:6450 semapv:UnspecifiedMatching -OMIM:602231 SUMO3 skos:exactMatch hgnc:SUMO3 semapv:UnspecifiedMatching +OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:11124 semapv:UnspecifiedMatching +OMIM:602231 SUMO3 skos:exactMatch hgnc.symbol:SUMO3 semapv:UnspecifiedMatching OMIM:602231 SUMO3 skos:exactMatch ncbigene:6612 semapv:UnspecifiedMatching -OMIM:602232 KCNQ3 skos:exactMatch hgnc:KCNQ3 semapv:UnspecifiedMatching +OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:6297 semapv:UnspecifiedMatching +OMIM:602232 KCNQ3 skos:exactMatch hgnc.symbol:KCNQ3 semapv:UnspecifiedMatching OMIM:602232 KCNQ3 skos:exactMatch ncbigene:3786 semapv:UnspecifiedMatching -OMIM:602233 APAF1 skos:exactMatch hgnc:APAF1 semapv:UnspecifiedMatching +OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:576 semapv:UnspecifiedMatching +OMIM:602233 APAF1 skos:exactMatch hgnc.symbol:APAF1 semapv:UnspecifiedMatching OMIM:602233 APAF1 skos:exactMatch ncbigene:317 semapv:UnspecifiedMatching -OMIM:602234 CASP9 skos:exactMatch hgnc:CASP9 semapv:UnspecifiedMatching +OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:1511 semapv:UnspecifiedMatching +OMIM:602234 CASP9 skos:exactMatch hgnc.symbol:CASP9 semapv:UnspecifiedMatching OMIM:602234 CASP9 skos:exactMatch ncbigene:842 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C1416614 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3149075 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching -OMIM:602235 KCNQ2 skos:exactMatch hgnc:KCNQ2 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:6296 semapv:UnspecifiedMatching +OMIM:602235 KCNQ2 skos:exactMatch hgnc.symbol:KCNQ2 semapv:UnspecifiedMatching OMIM:602235 KCNQ2 skos:exactMatch ncbigene:3785 semapv:UnspecifiedMatching -OMIM:602238 EXOSC2 skos:exactMatch hgnc:EXOSC2 semapv:UnspecifiedMatching +OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:17097 semapv:UnspecifiedMatching +OMIM:602238 EXOSC2 skos:exactMatch hgnc.symbol:EXOSC2 semapv:UnspecifiedMatching OMIM:602238 EXOSC2 skos:exactMatch ncbigene:23404 semapv:UnspecifiedMatching -OMIM:602239 CYP26A1 skos:exactMatch hgnc:CYP26A1 semapv:UnspecifiedMatching +OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:2603 semapv:UnspecifiedMatching +OMIM:602239 CYP26A1 skos:exactMatch hgnc.symbol:CYP26A1 semapv:UnspecifiedMatching OMIM:602239 CYP26A1 skos:exactMatch ncbigene:1592 semapv:UnspecifiedMatching -OMIM:602240 ZNF192 skos:exactMatch hgnc:ZKSCAN8 semapv:UnspecifiedMatching +OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:12983 semapv:UnspecifiedMatching +OMIM:602240 ZNF192 skos:exactMatch hgnc.symbol:ZKSCAN8 semapv:UnspecifiedMatching OMIM:602240 ZNF192 skos:exactMatch ncbigene:7745 semapv:UnspecifiedMatching -OMIM:602241 MIPEP skos:exactMatch hgnc:MIPEP semapv:UnspecifiedMatching +OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:7104 semapv:UnspecifiedMatching +OMIM:602241 MIPEP skos:exactMatch hgnc.symbol:MIPEP semapv:UnspecifiedMatching OMIM:602241 MIPEP skos:exactMatch ncbigene:4285 semapv:UnspecifiedMatching -OMIM:602242 AP2S1 skos:exactMatch hgnc:AP2S1 semapv:UnspecifiedMatching +OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:565 semapv:UnspecifiedMatching +OMIM:602242 AP2S1 skos:exactMatch hgnc.symbol:AP2S1 semapv:UnspecifiedMatching OMIM:602242 AP2S1 skos:exactMatch ncbigene:1175 semapv:UnspecifiedMatching -OMIM:602243 CD151 skos:exactMatch hgnc:CD151 semapv:UnspecifiedMatching +OMIM:602243 CD151 skos:exactMatch hgnc.symbol:1630 semapv:UnspecifiedMatching +OMIM:602243 CD151 skos:exactMatch hgnc.symbol:CD151 semapv:UnspecifiedMatching OMIM:602243 CD151 skos:exactMatch ncbigene:977 semapv:UnspecifiedMatching -OMIM:602244 DNASE1L3 skos:exactMatch hgnc:DNASE1L3 semapv:UnspecifiedMatching +OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:2959 semapv:UnspecifiedMatching +OMIM:602244 DNASE1L3 skos:exactMatch hgnc.symbol:DNASE1L3 semapv:UnspecifiedMatching OMIM:602244 DNASE1L3 skos:exactMatch ncbigene:1776 semapv:UnspecifiedMatching -OMIM:602245 GTPBP1 skos:exactMatch hgnc:GTPBP1 semapv:UnspecifiedMatching +OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:4669 semapv:UnspecifiedMatching +OMIM:602245 GTPBP1 skos:exactMatch hgnc.symbol:GTPBP1 semapv:UnspecifiedMatching OMIM:602245 GTPBP1 skos:exactMatch ncbigene:9567 semapv:UnspecifiedMatching -OMIM:602246 ZNF193 skos:exactMatch hgnc:ZSCAN9 semapv:UnspecifiedMatching +OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:12984 semapv:UnspecifiedMatching +OMIM:602246 ZNF193 skos:exactMatch hgnc.symbol:ZSCAN9 semapv:UnspecifiedMatching OMIM:602246 ZNF193 skos:exactMatch ncbigene:7746 semapv:UnspecifiedMatching -OMIM:602250 TNFRSF9 skos:exactMatch hgnc:TNFRSF9 semapv:UnspecifiedMatching +OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:11924 semapv:UnspecifiedMatching +OMIM:602250 TNFRSF9 skos:exactMatch hgnc.symbol:TNFRSF9 semapv:UnspecifiedMatching OMIM:602250 TNFRSF9 skos:exactMatch ncbigene:3604 semapv:UnspecifiedMatching OMIM:602251 TIMM10 skos:exactMatch UMLS:C1420738 semapv:UnspecifiedMatching -OMIM:602251 TIMM10 skos:exactMatch hgnc:TIMM10 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:11814 semapv:UnspecifiedMatching +OMIM:602251 TIMM10 skos:exactMatch hgnc.symbol:TIMM10 semapv:UnspecifiedMatching OMIM:602251 TIMM10 skos:exactMatch ncbigene:26519 semapv:UnspecifiedMatching -OMIM:602253 KLF4 skos:exactMatch hgnc:KLF4 semapv:UnspecifiedMatching +OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:6348 semapv:UnspecifiedMatching +OMIM:602253 KLF4 skos:exactMatch hgnc.symbol:KLF4 semapv:UnspecifiedMatching OMIM:602253 KLF4 skos:exactMatch ncbigene:9314 semapv:UnspecifiedMatching -OMIM:602254 SRRD skos:exactMatch hgnc:SRRD semapv:UnspecifiedMatching +OMIM:602254 SRRD skos:exactMatch hgnc.symbol:33910 semapv:UnspecifiedMatching +OMIM:602254 SRRD skos:exactMatch hgnc.symbol:SRRD semapv:UnspecifiedMatching OMIM:602254 SRRD skos:exactMatch ncbigene:402055 semapv:UnspecifiedMatching -OMIM:602255 STK25 skos:exactMatch hgnc:STK25 semapv:UnspecifiedMatching +OMIM:602255 STK25 skos:exactMatch hgnc.symbol:11404 semapv:UnspecifiedMatching +OMIM:602255 STK25 skos:exactMatch hgnc.symbol:STK25 semapv:UnspecifiedMatching OMIM:602255 STK25 skos:exactMatch ncbigene:10494 semapv:UnspecifiedMatching -OMIM:602256 PPEF2 skos:exactMatch hgnc:PPEF2 semapv:UnspecifiedMatching +OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:9244 semapv:UnspecifiedMatching +OMIM:602256 PPEF2 skos:exactMatch hgnc.symbol:PPEF2 semapv:UnspecifiedMatching OMIM:602256 PPEF2 skos:exactMatch ncbigene:5470 semapv:UnspecifiedMatching -OMIM:602257 SCARB2 skos:exactMatch hgnc:SCARB2 semapv:UnspecifiedMatching +OMIM:602257 SCARB2 skos:exactMatch hgnc.symbol:1665 semapv:UnspecifiedMatching +OMIM:602257 SCARB2 skos:exactMatch hgnc.symbol:SCARB2 semapv:UnspecifiedMatching OMIM:602257 SCARB2 skos:exactMatch ncbigene:950 semapv:UnspecifiedMatching -OMIM:602259 TTC3 skos:exactMatch hgnc:TTC3 semapv:UnspecifiedMatching +OMIM:602259 TTC3 skos:exactMatch hgnc.symbol:12393 semapv:UnspecifiedMatching +OMIM:602259 TTC3 skos:exactMatch hgnc.symbol:TTC3 semapv:UnspecifiedMatching OMIM:602259 TTC3 skos:exactMatch ncbigene:7267 semapv:UnspecifiedMatching -OMIM:602260 PER1 skos:exactMatch hgnc:PER1 semapv:UnspecifiedMatching +OMIM:602260 PER1 skos:exactMatch hgnc.symbol:8845 semapv:UnspecifiedMatching +OMIM:602260 PER1 skos:exactMatch hgnc.symbol:PER1 semapv:UnspecifiedMatching OMIM:602260 PER1 skos:exactMatch ncbigene:5187 semapv:UnspecifiedMatching -OMIM:602261 MMP15 skos:exactMatch hgnc:MMP15 semapv:UnspecifiedMatching +OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:7161 semapv:UnspecifiedMatching +OMIM:602261 MMP15 skos:exactMatch hgnc.symbol:MMP15 semapv:UnspecifiedMatching OMIM:602261 MMP15 skos:exactMatch ncbigene:4324 semapv:UnspecifiedMatching -OMIM:602262 MMP16 skos:exactMatch hgnc:MMP16 semapv:UnspecifiedMatching +OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:7162 semapv:UnspecifiedMatching +OMIM:602262 MMP16 skos:exactMatch hgnc.symbol:MMP16 semapv:UnspecifiedMatching OMIM:602262 MMP16 skos:exactMatch ncbigene:4325 semapv:UnspecifiedMatching -OMIM:602264 SPOCK1 skos:exactMatch hgnc:SPOCK1 semapv:UnspecifiedMatching +OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:11251 semapv:UnspecifiedMatching +OMIM:602264 SPOCK1 skos:exactMatch hgnc.symbol:SPOCK1 semapv:UnspecifiedMatching OMIM:602264 SPOCK1 skos:exactMatch ncbigene:6695 semapv:UnspecifiedMatching OMIM:602265 NEDD9 skos:exactMatch UMLS:C1417664 semapv:UnspecifiedMatching -OMIM:602265 NEDD9 skos:exactMatch hgnc:NEDD9 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:7733 semapv:UnspecifiedMatching +OMIM:602265 NEDD9 skos:exactMatch hgnc.symbol:NEDD9 semapv:UnspecifiedMatching OMIM:602265 NEDD9 skos:exactMatch ncbigene:4739 semapv:UnspecifiedMatching -OMIM:602267 ADAM8 skos:exactMatch hgnc:ADAM8 semapv:UnspecifiedMatching +OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:215 semapv:UnspecifiedMatching +OMIM:602267 ADAM8 skos:exactMatch hgnc.symbol:ADAM8 semapv:UnspecifiedMatching OMIM:602267 ADAM8 skos:exactMatch ncbigene:101 semapv:UnspecifiedMatching -OMIM:602268 AOC2 skos:exactMatch hgnc:AOC2 semapv:UnspecifiedMatching +OMIM:602268 AOC2 skos:exactMatch hgnc.symbol:549 semapv:UnspecifiedMatching +OMIM:602268 AOC2 skos:exactMatch hgnc.symbol:AOC2 semapv:UnspecifiedMatching OMIM:602268 AOC2 skos:exactMatch ncbigene:314 semapv:UnspecifiedMatching OMIM:602269 ARVCF skos:exactMatch UMLS:C1412567 semapv:UnspecifiedMatching -OMIM:602269 ARVCF skos:exactMatch hgnc:ARVCF semapv:UnspecifiedMatching +OMIM:602269 ARVCF skos:exactMatch hgnc.symbol:728 semapv:UnspecifiedMatching +OMIM:602269 ARVCF skos:exactMatch hgnc.symbol:ARVCF semapv:UnspecifiedMatching OMIM:602269 ARVCF skos:exactMatch ncbigene:421 semapv:UnspecifiedMatching -OMIM:602270 ATOX1 skos:exactMatch hgnc:ATOX1 semapv:UnspecifiedMatching +OMIM:602270 ATOX1 skos:exactMatch hgnc.symbol:798 semapv:UnspecifiedMatching +OMIM:602270 ATOX1 skos:exactMatch hgnc.symbol:ATOX1 semapv:UnspecifiedMatching OMIM:602270 ATOX1 skos:exactMatch ncbigene:475 semapv:UnspecifiedMatching -OMIM:602272 TCF4 skos:exactMatch hgnc:TCF4 semapv:UnspecifiedMatching +OMIM:602272 TCF4 skos:exactMatch hgnc.symbol:11634 semapv:UnspecifiedMatching +OMIM:602272 TCF4 skos:exactMatch hgnc.symbol:TCF4 semapv:UnspecifiedMatching OMIM:602272 TCF4 skos:exactMatch ncbigene:6925 semapv:UnspecifiedMatching -OMIM:602273 GALNT1 skos:exactMatch hgnc:GALNT1 semapv:UnspecifiedMatching +OMIM:602273 GALNT1 skos:exactMatch hgnc.symbol:4123 semapv:UnspecifiedMatching +OMIM:602273 GALNT1 skos:exactMatch hgnc.symbol:GALNT1 semapv:UnspecifiedMatching OMIM:602273 GALNT1 skos:exactMatch ncbigene:2589 semapv:UnspecifiedMatching OMIM:602274 GALNT2 skos:exactMatch UMLS:C1414952 semapv:UnspecifiedMatching OMIM:602274 GALNT2 skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching -OMIM:602274 GALNT2 skos:exactMatch hgnc:GALNT2 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:4124 semapv:UnspecifiedMatching +OMIM:602274 GALNT2 skos:exactMatch hgnc.symbol:GALNT2 semapv:UnspecifiedMatching OMIM:602274 GALNT2 skos:exactMatch ncbigene:2590 semapv:UnspecifiedMatching -OMIM:602275 GUCA1B skos:exactMatch hgnc:GUCA1B semapv:UnspecifiedMatching +OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:4679 semapv:UnspecifiedMatching +OMIM:602275 GUCA1B skos:exactMatch hgnc.symbol:GUCA1B semapv:UnspecifiedMatching OMIM:602275 GUCA1B skos:exactMatch ncbigene:2979 semapv:UnspecifiedMatching -OMIM:602276 TADA2A skos:exactMatch hgnc:TADA2A semapv:UnspecifiedMatching +OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:11531 semapv:UnspecifiedMatching +OMIM:602276 TADA2A skos:exactMatch hgnc.symbol:TADA2A semapv:UnspecifiedMatching OMIM:602276 TADA2A skos:exactMatch ncbigene:6871 semapv:UnspecifiedMatching -OMIM:602277 ZNF184 skos:exactMatch hgnc:ZNF184 semapv:UnspecifiedMatching +OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:12975 semapv:UnspecifiedMatching +OMIM:602277 ZNF184 skos:exactMatch hgnc.symbol:ZNF184 semapv:UnspecifiedMatching OMIM:602277 ZNF184 skos:exactMatch ncbigene:7738 semapv:UnspecifiedMatching -OMIM:602278 NEDD4 skos:exactMatch hgnc:NEDD4 semapv:UnspecifiedMatching +OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:7727 semapv:UnspecifiedMatching +OMIM:602278 NEDD4 skos:exactMatch hgnc.symbol:NEDD4 semapv:UnspecifiedMatching OMIM:602278 NEDD4 skos:exactMatch ncbigene:4734 semapv:UnspecifiedMatching -OMIM:602279 PABPN1 skos:exactMatch hgnc:PABPN1 semapv:UnspecifiedMatching +OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:8565 semapv:UnspecifiedMatching +OMIM:602279 PABPN1 skos:exactMatch hgnc.symbol:PABPN1 semapv:UnspecifiedMatching OMIM:602279 PABPN1 skos:exactMatch ncbigene:8106 semapv:UnspecifiedMatching -OMIM:602280 TULP1 skos:exactMatch hgnc:TULP1 semapv:UnspecifiedMatching +OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:12423 semapv:UnspecifiedMatching +OMIM:602280 TULP1 skos:exactMatch hgnc.symbol:TULP1 semapv:UnspecifiedMatching OMIM:602280 TULP1 skos:exactMatch ncbigene:7287 semapv:UnspecifiedMatching OMIM:602281 MFGE8 skos:exactMatch UMLS:C1334502 semapv:UnspecifiedMatching -OMIM:602281 MFGE8 skos:exactMatch hgnc:MFGE8 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:7036 semapv:UnspecifiedMatching +OMIM:602281 MFGE8 skos:exactMatch hgnc.symbol:MFGE8 semapv:UnspecifiedMatching OMIM:602281 MFGE8 skos:exactMatch ncbigene:4240 semapv:UnspecifiedMatching -OMIM:602282 LPAR1 skos:exactMatch hgnc:LPAR1 semapv:UnspecifiedMatching +OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:3166 semapv:UnspecifiedMatching +OMIM:602282 LPAR1 skos:exactMatch hgnc.symbol:LPAR1 semapv:UnspecifiedMatching OMIM:602282 LPAR1 skos:exactMatch ncbigene:1902 semapv:UnspecifiedMatching -OMIM:602283 CCL8 skos:exactMatch hgnc:CCL8 semapv:UnspecifiedMatching +OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:10635 semapv:UnspecifiedMatching +OMIM:602283 CCL8 skos:exactMatch hgnc.symbol:CCL8 semapv:UnspecifiedMatching OMIM:602283 CCL8 skos:exactMatch ncbigene:6355 semapv:UnspecifiedMatching -OMIM:602284 BMP8B skos:exactMatch hgnc:BMP8B semapv:UnspecifiedMatching +OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:1075 semapv:UnspecifiedMatching +OMIM:602284 BMP8B skos:exactMatch hgnc.symbol:BMP8B semapv:UnspecifiedMatching OMIM:602284 BMP8B skos:exactMatch ncbigene:656 semapv:UnspecifiedMatching -OMIM:602285 MMP17 skos:exactMatch hgnc:MMP17 semapv:UnspecifiedMatching +OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:7163 semapv:UnspecifiedMatching +OMIM:602285 MMP17 skos:exactMatch hgnc.symbol:MMP17 semapv:UnspecifiedMatching OMIM:602285 MMP17 skos:exactMatch ncbigene:4326 semapv:UnspecifiedMatching OMIM:602286 SC5D skos:exactMatch UMLS:C1419827 semapv:UnspecifiedMatching OMIM:602286 SC5D skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching -OMIM:602286 SC5D skos:exactMatch hgnc:SC5D semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch hgnc.symbol:10547 semapv:UnspecifiedMatching +OMIM:602286 SC5D skos:exactMatch hgnc.symbol:SC5D semapv:UnspecifiedMatching OMIM:602286 SC5D skos:exactMatch ncbigene:6309 semapv:UnspecifiedMatching -OMIM:602287 ERP29 skos:exactMatch hgnc:ERP29 semapv:UnspecifiedMatching +OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:13799 semapv:UnspecifiedMatching +OMIM:602287 ERP29 skos:exactMatch hgnc.symbol:ERP29 semapv:UnspecifiedMatching OMIM:602287 ERP29 skos:exactMatch ncbigene:10961 semapv:UnspecifiedMatching -OMIM:602288 RTKN skos:exactMatch hgnc:RTKN semapv:UnspecifiedMatching +OMIM:602288 RTKN skos:exactMatch hgnc.symbol:10466 semapv:UnspecifiedMatching +OMIM:602288 RTKN skos:exactMatch hgnc.symbol:RTKN semapv:UnspecifiedMatching OMIM:602288 RTKN skos:exactMatch ncbigene:6242 semapv:UnspecifiedMatching -OMIM:602289 DRAP1 skos:exactMatch hgnc:DRAP1 semapv:UnspecifiedMatching +OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:3019 semapv:UnspecifiedMatching +OMIM:602289 DRAP1 skos:exactMatch hgnc.symbol:DRAP1 semapv:UnspecifiedMatching OMIM:602289 DRAP1 skos:exactMatch ncbigene:10589 semapv:UnspecifiedMatching -OMIM:602290 TRIM32 skos:exactMatch hgnc:TRIM32 semapv:UnspecifiedMatching +OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:16380 semapv:UnspecifiedMatching +OMIM:602290 TRIM32 skos:exactMatch hgnc.symbol:TRIM32 semapv:UnspecifiedMatching OMIM:602290 TRIM32 skos:exactMatch ncbigene:22954 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C1414683 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231528 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch UMLS:C5231529 semapv:UnspecifiedMatching -OMIM:602291 FOXJ1 skos:exactMatch hgnc:FOXJ1 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:3816 semapv:UnspecifiedMatching +OMIM:602291 FOXJ1 skos:exactMatch hgnc.symbol:FOXJ1 semapv:UnspecifiedMatching OMIM:602291 FOXJ1 skos:exactMatch ncbigene:2302 semapv:UnspecifiedMatching OMIM:602292 ECHS1 skos:exactMatch UMLS:C1414247 semapv:UnspecifiedMatching OMIM:602292 ECHS1 skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching -OMIM:602292 ECHS1 skos:exactMatch hgnc:ECHS1 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:3151 semapv:UnspecifiedMatching +OMIM:602292 ECHS1 skos:exactMatch hgnc.symbol:ECHS1 semapv:UnspecifiedMatching OMIM:602292 ECHS1 skos:exactMatch ncbigene:1892 semapv:UnspecifiedMatching -OMIM:602293 CIB1 skos:exactMatch hgnc:CIB1 semapv:UnspecifiedMatching +OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:16920 semapv:UnspecifiedMatching +OMIM:602293 CIB1 skos:exactMatch hgnc.symbol:CIB1 semapv:UnspecifiedMatching OMIM:602293 CIB1 skos:exactMatch ncbigene:10519 semapv:UnspecifiedMatching OMIM:602294 FOXA1 skos:exactMatch UMLS:C1415626 semapv:UnspecifiedMatching -OMIM:602294 FOXA1 skos:exactMatch hgnc:FOXA1 semapv:UnspecifiedMatching +OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:5021 semapv:UnspecifiedMatching +OMIM:602294 FOXA1 skos:exactMatch hgnc.symbol:FOXA1 semapv:UnspecifiedMatching OMIM:602294 FOXA1 skos:exactMatch ncbigene:3169 semapv:UnspecifiedMatching -OMIM:602295 FOXA3 skos:exactMatch hgnc:FOXA3 semapv:UnspecifiedMatching +OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:5023 semapv:UnspecifiedMatching +OMIM:602295 FOXA3 skos:exactMatch hgnc.symbol:FOXA3 semapv:UnspecifiedMatching OMIM:602295 FOXA3 skos:exactMatch ncbigene:3171 semapv:UnspecifiedMatching -OMIM:602296 AP4M1 skos:exactMatch hgnc:AP4M1 semapv:UnspecifiedMatching +OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:574 semapv:UnspecifiedMatching +OMIM:602296 AP4M1 skos:exactMatch hgnc.symbol:AP4M1 semapv:UnspecifiedMatching OMIM:602296 AP4M1 skos:exactMatch ncbigene:9179 semapv:UnspecifiedMatching -OMIM:602297 EFNB3 skos:exactMatch hgnc:EFNB3 semapv:UnspecifiedMatching +OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:3228 semapv:UnspecifiedMatching +OMIM:602297 EFNB3 skos:exactMatch hgnc.symbol:EFNB3 semapv:UnspecifiedMatching OMIM:602297 EFNB3 skos:exactMatch ncbigene:1949 semapv:UnspecifiedMatching -OMIM:602298 RAB7 skos:exactMatch hgnc:RAB7A semapv:UnspecifiedMatching +OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:9788 semapv:UnspecifiedMatching +OMIM:602298 RAB7 skos:exactMatch hgnc.symbol:RAB7A semapv:UnspecifiedMatching OMIM:602298 RAB7 skos:exactMatch ncbigene:7879 semapv:UnspecifiedMatching -OMIM:602300 GAL3ST1 skos:exactMatch hgnc:GAL3ST1 semapv:UnspecifiedMatching +OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:24240 semapv:UnspecifiedMatching +OMIM:602300 GAL3ST1 skos:exactMatch hgnc.symbol:GAL3ST1 semapv:UnspecifiedMatching OMIM:602300 GAL3ST1 skos:exactMatch ncbigene:9514 semapv:UnspecifiedMatching -OMIM:602301 KAT2A skos:exactMatch hgnc:KAT2A semapv:UnspecifiedMatching +OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:4201 semapv:UnspecifiedMatching +OMIM:602301 KAT2A skos:exactMatch hgnc.symbol:KAT2A semapv:UnspecifiedMatching OMIM:602301 KAT2A skos:exactMatch ncbigene:2648 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C1415713 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C1859592 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C1859877 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C2750815 semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:602302 HR skos:exactMatch hgnc:HR semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch hgnc.symbol:5172 semapv:UnspecifiedMatching +OMIM:602302 HR skos:exactMatch hgnc.symbol:HR semapv:UnspecifiedMatching OMIM:602302 HR skos:exactMatch ncbigene:55806 semapv:UnspecifiedMatching -OMIM:602303 KAT2B skos:exactMatch hgnc:KAT2B semapv:UnspecifiedMatching +OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:8638 semapv:UnspecifiedMatching +OMIM:602303 KAT2B skos:exactMatch hgnc.symbol:KAT2B semapv:UnspecifiedMatching OMIM:602303 KAT2B skos:exactMatch ncbigene:8850 semapv:UnspecifiedMatching OMIM:602304 NR1D2 skos:exactMatch UMLS:C1417822 semapv:UnspecifiedMatching -OMIM:602304 NR1D2 skos:exactMatch hgnc:NR1D2 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:7963 semapv:UnspecifiedMatching +OMIM:602304 NR1D2 skos:exactMatch hgnc.symbol:NR1D2 semapv:UnspecifiedMatching OMIM:602304 NR1D2 skos:exactMatch ncbigene:9975 semapv:UnspecifiedMatching -OMIM:602306 RGL2 skos:exactMatch hgnc:RGL2 semapv:UnspecifiedMatching +OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:9769 semapv:UnspecifiedMatching +OMIM:602306 RGL2 skos:exactMatch hgnc.symbol:RGL2 semapv:UnspecifiedMatching OMIM:602306 RGL2 skos:exactMatch ncbigene:5863 semapv:UnspecifiedMatching -OMIM:602307 WWP1 skos:exactMatch hgnc:WWP1 semapv:UnspecifiedMatching +OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:17004 semapv:UnspecifiedMatching +OMIM:602307 WWP1 skos:exactMatch hgnc.symbol:WWP1 semapv:UnspecifiedMatching OMIM:602307 WWP1 skos:exactMatch ncbigene:11059 semapv:UnspecifiedMatching -OMIM:602308 WWP2 skos:exactMatch hgnc:WWP2 semapv:UnspecifiedMatching +OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:16804 semapv:UnspecifiedMatching +OMIM:602308 WWP2 skos:exactMatch hgnc.symbol:WWP2 semapv:UnspecifiedMatching OMIM:602308 WWP2 skos:exactMatch ncbigene:11060 semapv:UnspecifiedMatching -OMIM:602309 TULP2 skos:exactMatch hgnc:TULP2 semapv:UnspecifiedMatching +OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:12424 semapv:UnspecifiedMatching +OMIM:602309 TULP2 skos:exactMatch hgnc.symbol:TULP2 semapv:UnspecifiedMatching OMIM:602309 TULP2 skos:exactMatch ncbigene:7288 semapv:UnspecifiedMatching OMIM:602310 RBMS1 skos:exactMatch UMLS:C1419305 semapv:UnspecifiedMatching -OMIM:602310 RBMS1 skos:exactMatch hgnc:RBMS1 semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:9907 semapv:UnspecifiedMatching +OMIM:602310 RBMS1 skos:exactMatch hgnc.symbol:RBMS1 semapv:UnspecifiedMatching OMIM:602310 RBMS1 skos:exactMatch ncbigene:5937 semapv:UnspecifiedMatching -OMIM:602311 AGRP skos:exactMatch hgnc:AGRP semapv:UnspecifiedMatching +OMIM:602311 AGRP skos:exactMatch hgnc.symbol:330 semapv:UnspecifiedMatching +OMIM:602311 AGRP skos:exactMatch hgnc.symbol:AGRP semapv:UnspecifiedMatching OMIM:602311 AGRP skos:exactMatch ncbigene:181 semapv:UnspecifiedMatching -OMIM:602313 OVOL1 skos:exactMatch hgnc:OVOL1 semapv:UnspecifiedMatching +OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:8525 semapv:UnspecifiedMatching +OMIM:602313 OVOL1 skos:exactMatch hgnc.symbol:OVOL1 semapv:UnspecifiedMatching OMIM:602313 OVOL1 skos:exactMatch ncbigene:5017 semapv:UnspecifiedMatching -OMIM:602314 LAD1 skos:exactMatch hgnc:LAD1 semapv:UnspecifiedMatching +OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:6472 semapv:UnspecifiedMatching +OMIM:602314 LAD1 skos:exactMatch hgnc.symbol:LAD1 semapv:UnspecifiedMatching OMIM:602314 LAD1 skos:exactMatch ncbigene:3898 semapv:UnspecifiedMatching -OMIM:602315 MAP2K3 skos:exactMatch hgnc:MAP2K3 semapv:UnspecifiedMatching +OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:6843 semapv:UnspecifiedMatching +OMIM:602315 MAP2K3 skos:exactMatch hgnc.symbol:MAP2K3 semapv:UnspecifiedMatching OMIM:602315 MAP2K3 skos:exactMatch ncbigene:5606 semapv:UnspecifiedMatching -OMIM:602316 PRDX6 skos:exactMatch hgnc:PRDX6 semapv:UnspecifiedMatching +OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:16753 semapv:UnspecifiedMatching +OMIM:602316 PRDX6 skos:exactMatch hgnc.symbol:PRDX6 semapv:UnspecifiedMatching OMIM:602316 PRDX6 skos:exactMatch ncbigene:9588 semapv:UnspecifiedMatching -OMIM:602317 STAC1 skos:exactMatch hgnc:STAC semapv:UnspecifiedMatching +OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:11353 semapv:UnspecifiedMatching +OMIM:602317 STAC1 skos:exactMatch hgnc.symbol:STAC semapv:UnspecifiedMatching OMIM:602317 STAC1 skos:exactMatch ncbigene:6769 semapv:UnspecifiedMatching -OMIM:602318 MTERF1 skos:exactMatch hgnc:MTERF1 semapv:UnspecifiedMatching +OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:21463 semapv:UnspecifiedMatching +OMIM:602318 MTERF1 skos:exactMatch hgnc.symbol:MTERF1 semapv:UnspecifiedMatching OMIM:602318 MTERF1 skos:exactMatch ncbigene:7978 semapv:UnspecifiedMatching -OMIM:602319 NELL1 skos:exactMatch hgnc:NELL1 semapv:UnspecifiedMatching +OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:7750 semapv:UnspecifiedMatching +OMIM:602319 NELL1 skos:exactMatch hgnc.symbol:NELL1 semapv:UnspecifiedMatching OMIM:602319 NELL1 skos:exactMatch ncbigene:4745 semapv:UnspecifiedMatching OMIM:602320 NELL2 skos:exactMatch UMLS:C1417677 semapv:UnspecifiedMatching -OMIM:602320 NELL2 skos:exactMatch hgnc:NELL2 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:7751 semapv:UnspecifiedMatching +OMIM:602320 NELL2 skos:exactMatch hgnc.symbol:NELL2 semapv:UnspecifiedMatching OMIM:602320 NELL2 skos:exactMatch ncbigene:4753 semapv:UnspecifiedMatching -OMIM:602321 GSTK1 skos:exactMatch hgnc:GSTK1 semapv:UnspecifiedMatching +OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:16906 semapv:UnspecifiedMatching +OMIM:602321 GSTK1 skos:exactMatch hgnc.symbol:GSTK1 semapv:UnspecifiedMatching OMIM:602321 GSTK1 skos:exactMatch ncbigene:373156 semapv:UnspecifiedMatching -OMIM:602322 TERC skos:exactMatch hgnc:TERC semapv:UnspecifiedMatching +OMIM:602322 TERC skos:exactMatch hgnc.symbol:11727 semapv:UnspecifiedMatching +OMIM:602322 TERC skos:exactMatch hgnc.symbol:TERC semapv:UnspecifiedMatching OMIM:602322 TERC skos:exactMatch ncbigene:7012 semapv:UnspecifiedMatching -OMIM:602323 KCNJ12 skos:exactMatch hgnc:KCNJ12 semapv:UnspecifiedMatching +OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:6258 semapv:UnspecifiedMatching +OMIM:602323 KCNJ12 skos:exactMatch hgnc.symbol:KCNJ12 semapv:UnspecifiedMatching OMIM:602323 KCNJ12 skos:exactMatch ncbigene:3768 semapv:UnspecifiedMatching -OMIM:602324 HNRNPH3 skos:exactMatch hgnc:HNRNPH3 semapv:UnspecifiedMatching +OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:5043 semapv:UnspecifiedMatching +OMIM:602324 HNRNPH3 skos:exactMatch hgnc.symbol:HNRNPH3 semapv:UnspecifiedMatching OMIM:602324 HNRNPH3 skos:exactMatch ncbigene:3189 semapv:UnspecifiedMatching -OMIM:602325 EIF4G2 skos:exactMatch hgnc:EIF4G2 semapv:UnspecifiedMatching +OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:3297 semapv:UnspecifiedMatching +OMIM:602325 EIF4G2 skos:exactMatch hgnc.symbol:EIF4G2 semapv:UnspecifiedMatching OMIM:602325 EIF4G2 skos:exactMatch ncbigene:1982 semapv:UnspecifiedMatching -OMIM:602326 RPL23A skos:exactMatch hgnc:RPL23A semapv:UnspecifiedMatching +OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:10317 semapv:UnspecifiedMatching +OMIM:602326 RPL23A skos:exactMatch hgnc.symbol:RPL23A semapv:UnspecifiedMatching OMIM:602326 RPL23A skos:exactMatch ncbigene:6147 semapv:UnspecifiedMatching -OMIM:602327 PSD skos:exactMatch hgnc:PSD semapv:UnspecifiedMatching +OMIM:602327 PSD skos:exactMatch hgnc.symbol:9507 semapv:UnspecifiedMatching +OMIM:602327 PSD skos:exactMatch hgnc.symbol:PSD semapv:UnspecifiedMatching OMIM:602327 PSD skos:exactMatch ncbigene:5662 semapv:UnspecifiedMatching OMIM:602329 SEL1L skos:exactMatch UMLS:C1419939 semapv:UnspecifiedMatching -OMIM:602329 SEL1L skos:exactMatch hgnc:SEL1L semapv:UnspecifiedMatching +OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:10717 semapv:UnspecifiedMatching +OMIM:602329 SEL1L skos:exactMatch hgnc.symbol:SEL1L semapv:UnspecifiedMatching OMIM:602329 SEL1L skos:exactMatch ncbigene:6400 semapv:UnspecifiedMatching -OMIM:602330 ABLIM1 skos:exactMatch hgnc:ABLIM1 semapv:UnspecifiedMatching +OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:78 semapv:UnspecifiedMatching +OMIM:602330 ABLIM1 skos:exactMatch hgnc.symbol:ABLIM1 semapv:UnspecifiedMatching OMIM:602330 ABLIM1 skos:exactMatch ncbigene:3983 semapv:UnspecifiedMatching -OMIM:602331 ORC5 skos:exactMatch hgnc:ORC5 semapv:UnspecifiedMatching +OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:8491 semapv:UnspecifiedMatching +OMIM:602331 ORC5 skos:exactMatch hgnc.symbol:ORC5 semapv:UnspecifiedMatching OMIM:602331 ORC5 skos:exactMatch ncbigene:5001 semapv:UnspecifiedMatching -OMIM:602332 NCAPH skos:exactMatch hgnc:NCAPH semapv:UnspecifiedMatching +OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:1112 semapv:UnspecifiedMatching +OMIM:602332 NCAPH skos:exactMatch hgnc.symbol:NCAPH semapv:UnspecifiedMatching OMIM:602332 NCAPH skos:exactMatch ncbigene:23397 semapv:UnspecifiedMatching -OMIM:602333 EMP1 skos:exactMatch hgnc:EMP1 semapv:UnspecifiedMatching +OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:3333 semapv:UnspecifiedMatching +OMIM:602333 EMP1 skos:exactMatch hgnc.symbol:EMP1 semapv:UnspecifiedMatching OMIM:602333 EMP1 skos:exactMatch ncbigene:2012 semapv:UnspecifiedMatching -OMIM:602334 EMP2 skos:exactMatch hgnc:EMP2 semapv:UnspecifiedMatching +OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:3334 semapv:UnspecifiedMatching +OMIM:602334 EMP2 skos:exactMatch hgnc.symbol:EMP2 semapv:UnspecifiedMatching OMIM:602334 EMP2 skos:exactMatch ncbigene:2013 semapv:UnspecifiedMatching -OMIM:602335 EMP3 skos:exactMatch hgnc:EMP3 semapv:UnspecifiedMatching +OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:3335 semapv:UnspecifiedMatching +OMIM:602335 EMP3 skos:exactMatch hgnc.symbol:EMP3 semapv:UnspecifiedMatching OMIM:602335 EMP3 skos:exactMatch ncbigene:2014 semapv:UnspecifiedMatching -OMIM:602336 ROR1 skos:exactMatch hgnc:ROR1 semapv:UnspecifiedMatching +OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:10256 semapv:UnspecifiedMatching +OMIM:602336 ROR1 skos:exactMatch hgnc.symbol:ROR1 semapv:UnspecifiedMatching OMIM:602336 ROR1 skos:exactMatch ncbigene:4919 semapv:UnspecifiedMatching -OMIM:602337 ROR2 skos:exactMatch hgnc:ROR2 semapv:UnspecifiedMatching +OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:10257 semapv:UnspecifiedMatching +OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:ROR2 semapv:UnspecifiedMatching OMIM:602337 ROR2 skos:exactMatch ncbigene:4920 semapv:UnspecifiedMatching -OMIM:602338 PRPF4B skos:exactMatch hgnc:PRPF4B semapv:UnspecifiedMatching +OMIM:602338 PRPF4B skos:exactMatch hgnc.symbol:PRP4K semapv:UnspecifiedMatching OMIM:602338 PRPF4B skos:exactMatch ncbigene:8899 semapv:UnspecifiedMatching -OMIM:602339 SLC15A2 skos:exactMatch hgnc:SLC15A2 semapv:UnspecifiedMatching +OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:10921 semapv:UnspecifiedMatching +OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:SLC15A2 semapv:UnspecifiedMatching OMIM:602339 SLC15A2 skos:exactMatch ncbigene:6565 semapv:UnspecifiedMatching -OMIM:602341 FOXM1 skos:exactMatch hgnc:FOXM1 semapv:UnspecifiedMatching +OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:3818 semapv:UnspecifiedMatching +OMIM:602341 FOXM1 skos:exactMatch hgnc.symbol:FOXM1 semapv:UnspecifiedMatching OMIM:602341 FOXM1 skos:exactMatch ncbigene:2305 semapv:UnspecifiedMatching -OMIM:602343 TRPC1 skos:exactMatch hgnc:TRPC1 semapv:UnspecifiedMatching +OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:12333 semapv:UnspecifiedMatching +OMIM:602343 TRPC1 skos:exactMatch hgnc.symbol:TRPC1 semapv:UnspecifiedMatching OMIM:602343 TRPC1 skos:exactMatch ncbigene:7220 semapv:UnspecifiedMatching -OMIM:602344 PAFAH2 skos:exactMatch hgnc:PAFAH2 semapv:UnspecifiedMatching +OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:8579 semapv:UnspecifiedMatching +OMIM:602344 PAFAH2 skos:exactMatch hgnc.symbol:PAFAH2 semapv:UnspecifiedMatching OMIM:602344 PAFAH2 skos:exactMatch ncbigene:5051 semapv:UnspecifiedMatching -OMIM:602345 TRPC3 skos:exactMatch hgnc:TRPC3 semapv:UnspecifiedMatching +OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:12335 semapv:UnspecifiedMatching +OMIM:602345 TRPC3 skos:exactMatch hgnc.symbol:TRPC3 semapv:UnspecifiedMatching OMIM:602345 TRPC3 skos:exactMatch ncbigene:7222 semapv:UnspecifiedMatching -OMIM:602346 CNTNAP1 skos:exactMatch hgnc:CNTNAP1 semapv:UnspecifiedMatching +OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:8011 semapv:UnspecifiedMatching +OMIM:602346 CNTNAP1 skos:exactMatch hgnc.symbol:CNTNAP1 semapv:UnspecifiedMatching OMIM:602346 CNTNAP1 skos:exactMatch ncbigene:8506 semapv:UnspecifiedMatching -OMIM:602348 SNAPC3 skos:exactMatch hgnc:SNAPC3 semapv:UnspecifiedMatching +OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:11136 semapv:UnspecifiedMatching +OMIM:602348 SNAPC3 skos:exactMatch hgnc.symbol:SNAPC3 semapv:UnspecifiedMatching OMIM:602348 SNAPC3 skos:exactMatch ncbigene:6619 semapv:UnspecifiedMatching -OMIM:602349 NTN3 skos:exactMatch hgnc:NTN3 semapv:UnspecifiedMatching +OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:8030 semapv:UnspecifiedMatching +OMIM:602349 NTN3 skos:exactMatch hgnc.symbol:NTN3 semapv:UnspecifiedMatching OMIM:602349 NTN3 skos:exactMatch ncbigene:4917 semapv:UnspecifiedMatching -OMIM:602350 NRGN skos:exactMatch hgnc:NRGN semapv:UnspecifiedMatching +OMIM:602350 NRGN skos:exactMatch hgnc.symbol:8000 semapv:UnspecifiedMatching +OMIM:602350 NRGN skos:exactMatch hgnc.symbol:NRGN semapv:UnspecifiedMatching OMIM:602350 NRGN skos:exactMatch ncbigene:4900 semapv:UnspecifiedMatching -OMIM:602351 CMKLR1 skos:exactMatch hgnc:CMKLR1 semapv:UnspecifiedMatching +OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:2121 semapv:UnspecifiedMatching +OMIM:602351 CMKLR1 skos:exactMatch hgnc.symbol:CMKLR1 semapv:UnspecifiedMatching OMIM:602351 CMKLR1 skos:exactMatch ncbigene:1240 semapv:UnspecifiedMatching -OMIM:602352 GNRH2 skos:exactMatch hgnc:GNRH2 semapv:UnspecifiedMatching +OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:4420 semapv:UnspecifiedMatching +OMIM:602352 GNRH2 skos:exactMatch hgnc.symbol:GNRH2 semapv:UnspecifiedMatching OMIM:602352 GNRH2 skos:exactMatch ncbigene:2797 semapv:UnspecifiedMatching -OMIM:602353 TGFB1I1 skos:exactMatch hgnc:TGFB1I1 semapv:UnspecifiedMatching +OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:11767 semapv:UnspecifiedMatching +OMIM:602353 TGFB1I1 skos:exactMatch hgnc.symbol:TGFB1I1 semapv:UnspecifiedMatching OMIM:602353 TGFB1I1 skos:exactMatch ncbigene:7041 semapv:UnspecifiedMatching -OMIM:602354 LAT skos:exactMatch hgnc:LAT semapv:UnspecifiedMatching +OMIM:602354 LAT skos:exactMatch hgnc.symbol:18874 semapv:UnspecifiedMatching +OMIM:602354 LAT skos:exactMatch hgnc.symbol:LAT semapv:UnspecifiedMatching OMIM:602354 LAT skos:exactMatch ncbigene:27040 semapv:UnspecifiedMatching OMIM:602355 TRAF6 skos:exactMatch UMLS:C1336666 semapv:UnspecifiedMatching -OMIM:602355 TRAF6 skos:exactMatch hgnc:TRAF6 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:12036 semapv:UnspecifiedMatching +OMIM:602355 TRAF6 skos:exactMatch hgnc.symbol:TRAF6 semapv:UnspecifiedMatching OMIM:602355 TRAF6 skos:exactMatch ncbigene:7189 semapv:UnspecifiedMatching -OMIM:602356 TRAF5 skos:exactMatch hgnc:TRAF5 semapv:UnspecifiedMatching +OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:12035 semapv:UnspecifiedMatching +OMIM:602356 TRAF5 skos:exactMatch hgnc.symbol:TRAF5 semapv:UnspecifiedMatching OMIM:602356 TRAF5 skos:exactMatch ncbigene:7188 semapv:UnspecifiedMatching OMIM:602357 WIPF1 skos:exactMatch UMLS:C1823857 semapv:UnspecifiedMatching OMIM:602357 WIPF1 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching -OMIM:602357 WIPF1 skos:exactMatch hgnc:WIPF1 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:12736 semapv:UnspecifiedMatching +OMIM:602357 WIPF1 skos:exactMatch hgnc.symbol:WIPF1 semapv:UnspecifiedMatching OMIM:602357 WIPF1 skos:exactMatch ncbigene:7456 semapv:UnspecifiedMatching -OMIM:602358 HCRT skos:exactMatch hgnc:HCRT semapv:UnspecifiedMatching +OMIM:602358 HCRT skos:exactMatch hgnc.symbol:4847 semapv:UnspecifiedMatching +OMIM:602358 HCRT skos:exactMatch hgnc.symbol:HCRT semapv:UnspecifiedMatching OMIM:602358 HCRT skos:exactMatch ncbigene:3060 semapv:UnspecifiedMatching -OMIM:602359 FXYD1 skos:exactMatch hgnc:FXYD1 semapv:UnspecifiedMatching +OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:4025 semapv:UnspecifiedMatching +OMIM:602359 FXYD1 skos:exactMatch hgnc.symbol:FXYD1 semapv:UnspecifiedMatching OMIM:602359 FXYD1 skos:exactMatch ncbigene:5348 semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch UMLS:C1414997 semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch UMLS:C2675179 semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch UMLS:C4551503 semapv:UnspecifiedMatching -OMIM:602360 GATM skos:exactMatch hgnc:GATM semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch hgnc.symbol:4175 semapv:UnspecifiedMatching +OMIM:602360 GATM skos:exactMatch hgnc.symbol:GATM semapv:UnspecifiedMatching OMIM:602360 GATM skos:exactMatch ncbigene:2628 semapv:UnspecifiedMatching -OMIM:602362 RANGAP1 skos:exactMatch hgnc:RANGAP1 semapv:UnspecifiedMatching +OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:9854 semapv:UnspecifiedMatching +OMIM:602362 RANGAP1 skos:exactMatch hgnc.symbol:RANGAP1 semapv:UnspecifiedMatching OMIM:602362 RANGAP1 skos:exactMatch ncbigene:5905 semapv:UnspecifiedMatching -OMIM:602364 CTSW skos:exactMatch hgnc:CTSW semapv:UnspecifiedMatching +OMIM:602364 CTSW skos:exactMatch hgnc.symbol:2546 semapv:UnspecifiedMatching +OMIM:602364 CTSW skos:exactMatch hgnc.symbol:CTSW semapv:UnspecifiedMatching OMIM:602364 CTSW skos:exactMatch ncbigene:1521 semapv:UnspecifiedMatching -OMIM:602365 CTSC skos:exactMatch hgnc:CTSC semapv:UnspecifiedMatching +OMIM:602365 CTSC skos:exactMatch hgnc.symbol:2528 semapv:UnspecifiedMatching +OMIM:602365 CTSC skos:exactMatch hgnc.symbol:CTSC semapv:UnspecifiedMatching OMIM:602365 CTSC skos:exactMatch ncbigene:1075 semapv:UnspecifiedMatching OMIM:602366 ILK skos:exactMatch UMLS:C1334128 semapv:UnspecifiedMatching OMIM:602366 ILK skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602366 ILK skos:exactMatch hgnc:ILK semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch hgnc.symbol:6040 semapv:UnspecifiedMatching +OMIM:602366 ILK skos:exactMatch hgnc.symbol:ILK semapv:UnspecifiedMatching OMIM:602366 ILK skos:exactMatch ncbigene:3611 semapv:UnspecifiedMatching -OMIM:602367 NPTX1 skos:exactMatch hgnc:NPTX1 semapv:UnspecifiedMatching +OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:7952 semapv:UnspecifiedMatching +OMIM:602367 NPTX1 skos:exactMatch hgnc.symbol:NPTX1 semapv:UnspecifiedMatching OMIM:602367 NPTX1 skos:exactMatch ncbigene:4884 semapv:UnspecifiedMatching -OMIM:602368 GRID2 skos:exactMatch hgnc:GRID2 semapv:UnspecifiedMatching +OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:4576 semapv:UnspecifiedMatching +OMIM:602368 GRID2 skos:exactMatch hgnc.symbol:GRID2 semapv:UnspecifiedMatching OMIM:602368 GRID2 skos:exactMatch ncbigene:2895 semapv:UnspecifiedMatching -OMIM:602369 CCN1 skos:exactMatch hgnc:CCN1 semapv:UnspecifiedMatching +OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:2654 semapv:UnspecifiedMatching +OMIM:602369 CCN1 skos:exactMatch hgnc.symbol:CCN1 semapv:UnspecifiedMatching OMIM:602369 CCN1 skos:exactMatch ncbigene:3491 semapv:UnspecifiedMatching -OMIM:602370 GML skos:exactMatch hgnc:GML semapv:UnspecifiedMatching +OMIM:602370 GML skos:exactMatch hgnc.symbol:4375 semapv:UnspecifiedMatching +OMIM:602370 GML skos:exactMatch hgnc.symbol:GML semapv:UnspecifiedMatching OMIM:602370 GML skos:exactMatch ncbigene:2765 semapv:UnspecifiedMatching -OMIM:602371 ACSL3 skos:exactMatch hgnc:ACSL3 semapv:UnspecifiedMatching +OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:3570 semapv:UnspecifiedMatching +OMIM:602371 ACSL3 skos:exactMatch hgnc.symbol:ACSL3 semapv:UnspecifiedMatching OMIM:602371 ACSL3 skos:exactMatch ncbigene:2181 semapv:UnspecifiedMatching -OMIM:602372 ZAN skos:exactMatch hgnc:ZAN semapv:UnspecifiedMatching +OMIM:602372 ZAN skos:exactMatch hgnc.symbol:12857 semapv:UnspecifiedMatching +OMIM:602372 ZAN skos:exactMatch hgnc.symbol:ZAN semapv:UnspecifiedMatching OMIM:602372 ZAN skos:exactMatch ncbigene:7455 semapv:UnspecifiedMatching -OMIM:602373 CNN2 skos:exactMatch hgnc:CNN2 semapv:UnspecifiedMatching +OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:2156 semapv:UnspecifiedMatching +OMIM:602373 CNN2 skos:exactMatch hgnc.symbol:CNN2 semapv:UnspecifiedMatching OMIM:602373 CNN2 skos:exactMatch ncbigene:1265 semapv:UnspecifiedMatching -OMIM:602374 CNN3 skos:exactMatch hgnc:CNN3 semapv:UnspecifiedMatching +OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:2157 semapv:UnspecifiedMatching +OMIM:602374 CNN3 skos:exactMatch hgnc.symbol:CNN3 semapv:UnspecifiedMatching OMIM:602374 CNN3 skos:exactMatch ncbigene:1266 semapv:UnspecifiedMatching OMIM:602375 MRPL12 skos:exactMatch UMLS:C1419694 semapv:UnspecifiedMatching OMIM:602375 MRPL12 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching -OMIM:602375 MRPL12 skos:exactMatch hgnc:MRPL12 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:10378 semapv:UnspecifiedMatching +OMIM:602375 MRPL12 skos:exactMatch hgnc.symbol:MRPL12 semapv:UnspecifiedMatching OMIM:602375 MRPL12 skos:exactMatch ncbigene:6182 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1334082 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch UMLS:C1864880 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch UMLS:C4225252 semapv:UnspecifiedMatching -OMIM:602376 IFNAR2 skos:exactMatch hgnc:IFNAR2 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:5433 semapv:UnspecifiedMatching +OMIM:602376 IFNAR2 skos:exactMatch hgnc.symbol:IFNAR2 semapv:UnspecifiedMatching OMIM:602376 IFNAR2 skos:exactMatch ncbigene:3455 semapv:UnspecifiedMatching OMIM:602377 DNM1 skos:exactMatch UMLS:C1414118 semapv:UnspecifiedMatching OMIM:602377 DNM1 skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching -OMIM:602377 DNM1 skos:exactMatch hgnc:DNM1 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:2972 semapv:UnspecifiedMatching +OMIM:602377 DNM1 skos:exactMatch hgnc.symbol:DNM1 semapv:UnspecifiedMatching OMIM:602377 DNM1 skos:exactMatch ncbigene:1759 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch UMLS:C1414120 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch UMLS:C1847902 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch UMLS:C4551952 semapv:UnspecifiedMatching -OMIM:602378 DNM2 skos:exactMatch hgnc:DNM2 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:2974 semapv:UnspecifiedMatching +OMIM:602378 DNM2 skos:exactMatch hgnc.symbol:DNM2 semapv:UnspecifiedMatching OMIM:602378 DNM2 skos:exactMatch ncbigene:1785 semapv:UnspecifiedMatching -OMIM:602380 UPK1B skos:exactMatch hgnc:UPK1B semapv:UnspecifiedMatching +OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:12578 semapv:UnspecifiedMatching +OMIM:602380 UPK1B skos:exactMatch hgnc.symbol:UPK1B semapv:UnspecifiedMatching OMIM:602380 UPK1B skos:exactMatch ncbigene:7348 semapv:UnspecifiedMatching -OMIM:602381 NAB2 skos:exactMatch hgnc:NAB2 semapv:UnspecifiedMatching +OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:7627 semapv:UnspecifiedMatching +OMIM:602381 NAB2 skos:exactMatch hgnc.symbol:NAB2 semapv:UnspecifiedMatching OMIM:602381 NAB2 skos:exactMatch ncbigene:4665 semapv:UnspecifiedMatching -OMIM:602382 PLD1 skos:exactMatch hgnc:PLD1 semapv:UnspecifiedMatching +OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:9067 semapv:UnspecifiedMatching +OMIM:602382 PLD1 skos:exactMatch hgnc.symbol:PLD1 semapv:UnspecifiedMatching OMIM:602382 PLD1 skos:exactMatch ncbigene:5337 semapv:UnspecifiedMatching -OMIM:602383 OGN skos:exactMatch hgnc:OGN semapv:UnspecifiedMatching +OMIM:602383 OGN skos:exactMatch hgnc.symbol:8126 semapv:UnspecifiedMatching +OMIM:602383 OGN skos:exactMatch hgnc.symbol:OGN semapv:UnspecifiedMatching OMIM:602383 OGN skos:exactMatch ncbigene:4969 semapv:UnspecifiedMatching -OMIM:602384 PLD2 skos:exactMatch hgnc:PLD2 semapv:UnspecifiedMatching +OMIM:602384 PLD2 skos:exactMatch hgnc.symbol:9068 semapv:UnspecifiedMatching +OMIM:602384 PLD2 skos:exactMatch hgnc.symbol:PLD2 semapv:UnspecifiedMatching OMIM:602384 PLD2 skos:exactMatch ncbigene:5338 semapv:UnspecifiedMatching -OMIM:602385 SULT1C2 skos:exactMatch hgnc:SULT1C2 semapv:UnspecifiedMatching +OMIM:602385 SULT1C2 skos:exactMatch hgnc.symbol:11456 semapv:UnspecifiedMatching +OMIM:602385 SULT1C2 skos:exactMatch hgnc.symbol:SULT1C2 semapv:UnspecifiedMatching OMIM:602385 SULT1C2 skos:exactMatch ncbigene:6819 semapv:UnspecifiedMatching -OMIM:602386 ZNF212 skos:exactMatch hgnc:ZNF212 semapv:UnspecifiedMatching +OMIM:602386 ZNF212 skos:exactMatch hgnc.symbol:13004 semapv:UnspecifiedMatching +OMIM:602386 ZNF212 skos:exactMatch hgnc.symbol:ZNF212 semapv:UnspecifiedMatching OMIM:602386 ZNF212 skos:exactMatch ncbigene:7988 semapv:UnspecifiedMatching -OMIM:602387 RBMS2 skos:exactMatch hgnc:RBMS2 semapv:UnspecifiedMatching +OMIM:602387 RBMS2 skos:exactMatch hgnc.symbol:9909 semapv:UnspecifiedMatching +OMIM:602387 RBMS2 skos:exactMatch hgnc.symbol:RBMS2 semapv:UnspecifiedMatching OMIM:602387 RBMS2 skos:exactMatch ncbigene:5939 semapv:UnspecifiedMatching -OMIM:602388 SYMPK skos:exactMatch hgnc:SYMPK semapv:UnspecifiedMatching +OMIM:602388 SYMPK skos:exactMatch hgnc.symbol:22935 semapv:UnspecifiedMatching +OMIM:602388 SYMPK skos:exactMatch hgnc.symbol:SYMPK semapv:UnspecifiedMatching OMIM:602388 SYMPK skos:exactMatch ncbigene:8189 semapv:UnspecifiedMatching -OMIM:602389 TUFM skos:exactMatch hgnc:TUFM semapv:UnspecifiedMatching +OMIM:602389 TUFM skos:exactMatch hgnc.symbol:12420 semapv:UnspecifiedMatching +OMIM:602389 TUFM skos:exactMatch hgnc.symbol:TUFM semapv:UnspecifiedMatching OMIM:602389 TUFM skos:exactMatch ncbigene:7284 semapv:UnspecifiedMatching -OMIM:602391 PEMT skos:exactMatch hgnc:PEMT semapv:UnspecifiedMatching +OMIM:602391 PEMT skos:exactMatch hgnc.symbol:8830 semapv:UnspecifiedMatching +OMIM:602391 PEMT skos:exactMatch hgnc.symbol:PEMT semapv:UnspecifiedMatching OMIM:602391 PEMT skos:exactMatch ncbigene:10400 semapv:UnspecifiedMatching -OMIM:602392 HCRTR1 skos:exactMatch hgnc:HCRTR1 semapv:UnspecifiedMatching +OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:4848 semapv:UnspecifiedMatching +OMIM:602392 HCRTR1 skos:exactMatch hgnc.symbol:HCRTR1 semapv:UnspecifiedMatching OMIM:602392 HCRTR1 skos:exactMatch ncbigene:3061 semapv:UnspecifiedMatching -OMIM:602393 HCRTR2 skos:exactMatch hgnc:HCRTR2 semapv:UnspecifiedMatching +OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:4849 semapv:UnspecifiedMatching +OMIM:602393 HCRTR2 skos:exactMatch hgnc.symbol:HCRTR2 semapv:UnspecifiedMatching OMIM:602393 HCRTR2 skos:exactMatch ncbigene:3062 semapv:UnspecifiedMatching -OMIM:602394 NOLC1 skos:exactMatch hgnc:NOLC1 semapv:UnspecifiedMatching +OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:15608 semapv:UnspecifiedMatching +OMIM:602394 NOLC1 skos:exactMatch hgnc.symbol:NOLC1 semapv:UnspecifiedMatching OMIM:602394 NOLC1 skos:exactMatch ncbigene:9221 semapv:UnspecifiedMatching -OMIM:602395 GPAM skos:exactMatch hgnc:GPAM semapv:UnspecifiedMatching +OMIM:602395 GPAM skos:exactMatch hgnc.symbol:24865 semapv:UnspecifiedMatching +OMIM:602395 GPAM skos:exactMatch hgnc.symbol:GPAM semapv:UnspecifiedMatching OMIM:602395 GPAM skos:exactMatch ncbigene:57678 semapv:UnspecifiedMatching -OMIM:602396 ANXA8 skos:exactMatch hgnc:ANXA8 semapv:UnspecifiedMatching +OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:546 semapv:UnspecifiedMatching +OMIM:602396 ANXA8 skos:exactMatch hgnc.symbol:ANXA8 semapv:UnspecifiedMatching OMIM:602396 ANXA8 skos:exactMatch ncbigene:653145 semapv:UnspecifiedMatching -OMIM:602397 ATP8B1 skos:exactMatch hgnc:ATP8B1 semapv:UnspecifiedMatching +OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:3706 semapv:UnspecifiedMatching +OMIM:602397 ATP8B1 skos:exactMatch hgnc.symbol:ATP8B1 semapv:UnspecifiedMatching OMIM:602397 ATP8B1 skos:exactMatch ncbigene:5205 semapv:UnspecifiedMatching OMIM:602399 MAPK12 skos:exactMatch UMLS:C1366897 semapv:UnspecifiedMatching -OMIM:602399 MAPK12 skos:exactMatch hgnc:MAPK12 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:6874 semapv:UnspecifiedMatching +OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:MAPK12 semapv:UnspecifiedMatching OMIM:602399 MAPK12 skos:exactMatch ncbigene:6300 semapv:UnspecifiedMatching -OMIM:602402 FOXC2 skos:exactMatch hgnc:FOXC2 semapv:UnspecifiedMatching +OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:3801 semapv:UnspecifiedMatching +OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:FOXC2 semapv:UnspecifiedMatching OMIM:602402 FOXC2 skos:exactMatch ncbigene:2303 semapv:UnspecifiedMatching -OMIM:602403 BLMH skos:exactMatch hgnc:BLMH semapv:UnspecifiedMatching +OMIM:602403 BLMH skos:exactMatch hgnc.symbol:1059 semapv:UnspecifiedMatching +OMIM:602403 BLMH skos:exactMatch hgnc.symbol:BLMH semapv:UnspecifiedMatching OMIM:602403 BLMH skos:exactMatch ncbigene:642 semapv:UnspecifiedMatching -OMIM:602406 HAND1 skos:exactMatch hgnc:HAND1 semapv:UnspecifiedMatching +OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:4807 semapv:UnspecifiedMatching +OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:HAND1 semapv:UnspecifiedMatching OMIM:602406 HAND1 skos:exactMatch ncbigene:9421 semapv:UnspecifiedMatching OMIM:602407 HAND2 skos:exactMatch UMLS:C1415467 semapv:UnspecifiedMatching -OMIM:602407 HAND2 skos:exactMatch hgnc:HAND2 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:4808 semapv:UnspecifiedMatching +OMIM:602407 HAND2 skos:exactMatch hgnc.symbol:HAND2 semapv:UnspecifiedMatching OMIM:602407 HAND2 skos:exactMatch ncbigene:9464 semapv:UnspecifiedMatching OMIM:602408 NR1D1 skos:exactMatch UMLS:C1417821 semapv:UnspecifiedMatching -OMIM:602408 NR1D1 skos:exactMatch hgnc:NR1D1 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:7962 semapv:UnspecifiedMatching +OMIM:602408 NR1D1 skos:exactMatch hgnc.symbol:NR1D1 semapv:UnspecifiedMatching OMIM:602408 NR1D1 skos:exactMatch ncbigene:9572 semapv:UnspecifiedMatching OMIM:602409 MLLT10 skos:exactMatch UMLS:C1423947 semapv:UnspecifiedMatching -OMIM:602409 MLLT10 skos:exactMatch hgnc:MLLT10 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:16063 semapv:UnspecifiedMatching +OMIM:602409 MLLT10 skos:exactMatch hgnc.symbol:MLLT10 semapv:UnspecifiedMatching OMIM:602409 MLLT10 skos:exactMatch ncbigene:8028 semapv:UnspecifiedMatching -OMIM:602410 BRPF1 skos:exactMatch hgnc:BRPF1 semapv:UnspecifiedMatching +OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:14255 semapv:UnspecifiedMatching +OMIM:602410 BRPF1 skos:exactMatch hgnc.symbol:BRPF1 semapv:UnspecifiedMatching OMIM:602410 BRPF1 skos:exactMatch ncbigene:7862 semapv:UnspecifiedMatching -OMIM:602411 EXTL2 skos:exactMatch hgnc:EXTL2 semapv:UnspecifiedMatching +OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:3516 semapv:UnspecifiedMatching +OMIM:602411 EXTL2 skos:exactMatch hgnc.symbol:EXTL2 semapv:UnspecifiedMatching OMIM:602411 EXTL2 skos:exactMatch ncbigene:2135 semapv:UnspecifiedMatching -OMIM:602412 RPS24 skos:exactMatch hgnc:RPS24 semapv:UnspecifiedMatching +OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:10411 semapv:UnspecifiedMatching +OMIM:602412 RPS24 skos:exactMatch hgnc.symbol:RPS24 semapv:UnspecifiedMatching OMIM:602412 RPS24 skos:exactMatch ncbigene:6229 semapv:UnspecifiedMatching -OMIM:602413 SDHC skos:exactMatch hgnc:SDHC semapv:UnspecifiedMatching +OMIM:602413 SDHC skos:exactMatch hgnc.symbol:10682 semapv:UnspecifiedMatching +OMIM:602413 SDHC skos:exactMatch hgnc.symbol:SDHC semapv:UnspecifiedMatching OMIM:602413 SDHC skos:exactMatch ncbigene:6391 semapv:UnspecifiedMatching OMIM:602414 APBA1 skos:exactMatch UMLS:C1412456 semapv:UnspecifiedMatching -OMIM:602414 APBA1 skos:exactMatch hgnc:APBA1 semapv:UnspecifiedMatching +OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:578 semapv:UnspecifiedMatching +OMIM:602414 APBA1 skos:exactMatch hgnc.symbol:APBA1 semapv:UnspecifiedMatching OMIM:602414 APBA1 skos:exactMatch ncbigene:320 semapv:UnspecifiedMatching -OMIM:602415 DTNB skos:exactMatch hgnc:DTNB semapv:UnspecifiedMatching +OMIM:602415 DTNB skos:exactMatch hgnc.symbol:3058 semapv:UnspecifiedMatching +OMIM:602415 DTNB skos:exactMatch hgnc.symbol:DTNB semapv:UnspecifiedMatching OMIM:602415 DTNB skos:exactMatch ncbigene:1838 semapv:UnspecifiedMatching -OMIM:602416 AP3S2 skos:exactMatch hgnc:AP3S2 semapv:UnspecifiedMatching +OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:571 semapv:UnspecifiedMatching +OMIM:602416 AP3S2 skos:exactMatch hgnc.symbol:AP3S2 semapv:UnspecifiedMatching OMIM:602416 AP3S2 skos:exactMatch ncbigene:10239 semapv:UnspecifiedMatching OMIM:602418 weyers ulnar ray/oligodactyly syndrome skos:exactMatch UMLS:C1865566 semapv:UnspecifiedMatching -OMIM:602419 EGR3 skos:exactMatch hgnc:EGR3 semapv:UnspecifiedMatching +OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:3240 semapv:UnspecifiedMatching +OMIM:602419 EGR3 skos:exactMatch hgnc.symbol:EGR3 semapv:UnspecifiedMatching OMIM:602419 EGR3 skos:exactMatch ncbigene:1960 semapv:UnspecifiedMatching -OMIM:602420 KCNA10 skos:exactMatch hgnc:KCNA10 semapv:UnspecifiedMatching +OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:6219 semapv:UnspecifiedMatching +OMIM:602420 KCNA10 skos:exactMatch hgnc.symbol:KCNA10 semapv:UnspecifiedMatching OMIM:602420 KCNA10 skos:exactMatch ncbigene:3744 semapv:UnspecifiedMatching -OMIM:602421 CFTR skos:exactMatch hgnc:CFTR semapv:UnspecifiedMatching +OMIM:602421 CFTR skos:exactMatch hgnc.symbol:1884 semapv:UnspecifiedMatching +OMIM:602421 CFTR skos:exactMatch hgnc.symbol:CFTR semapv:UnspecifiedMatching OMIM:602421 CFTR skos:exactMatch ncbigene:1080 semapv:UnspecifiedMatching -OMIM:602422 SLBP skos:exactMatch hgnc:SLBP semapv:UnspecifiedMatching +OMIM:602422 SLBP skos:exactMatch hgnc.symbol:10904 semapv:UnspecifiedMatching +OMIM:602422 SLBP skos:exactMatch hgnc.symbol:SLBP semapv:UnspecifiedMatching OMIM:602422 SLBP skos:exactMatch ncbigene:7884 semapv:UnspecifiedMatching -OMIM:602423 NR1H3 skos:exactMatch hgnc:NR1H3 semapv:UnspecifiedMatching +OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:7966 semapv:UnspecifiedMatching +OMIM:602423 NR1H3 skos:exactMatch hgnc.symbol:NR1H3 semapv:UnspecifiedMatching OMIM:602423 NR1H3 skos:exactMatch ncbigene:10062 semapv:UnspecifiedMatching -OMIM:602424 DMRT1 skos:exactMatch hgnc:DMRT1 semapv:UnspecifiedMatching +OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:2934 semapv:UnspecifiedMatching +OMIM:602424 DMRT1 skos:exactMatch hgnc.symbol:DMRT1 semapv:UnspecifiedMatching OMIM:602424 DMRT1 skos:exactMatch ncbigene:1761 semapv:UnspecifiedMatching -OMIM:602425 MAP3K4 skos:exactMatch hgnc:MAP3K4 semapv:UnspecifiedMatching +OMIM:602425 MAP3K4 skos:exactMatch hgnc.symbol:6856 semapv:UnspecifiedMatching +OMIM:602425 MAP3K4 skos:exactMatch hgnc.symbol:MAP3K4 semapv:UnspecifiedMatching OMIM:602425 MAP3K4 skos:exactMatch ncbigene:4216 semapv:UnspecifiedMatching -OMIM:602426 NVL skos:exactMatch hgnc:NVL semapv:UnspecifiedMatching +OMIM:602426 NVL skos:exactMatch hgnc.symbol:8070 semapv:UnspecifiedMatching +OMIM:602426 NVL skos:exactMatch hgnc.symbol:NVL semapv:UnspecifiedMatching OMIM:602426 NVL skos:exactMatch ncbigene:4931 semapv:UnspecifiedMatching OMIM:602427 TBX6 skos:exactMatch UMLS:C1420616 semapv:UnspecifiedMatching OMIM:602427 TBX6 skos:exactMatch UMLS:C4083048 semapv:UnspecifiedMatching -OMIM:602427 TBX6 skos:exactMatch hgnc:TBX6 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch hgnc.symbol:11605 semapv:UnspecifiedMatching +OMIM:602427 TBX6 skos:exactMatch hgnc.symbol:TBX6 semapv:UnspecifiedMatching OMIM:602427 TBX6 skos:exactMatch ncbigene:6911 semapv:UnspecifiedMatching -OMIM:602428 HAS3 skos:exactMatch hgnc:HAS3 semapv:UnspecifiedMatching +OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:4820 semapv:UnspecifiedMatching +OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:HAS3 semapv:UnspecifiedMatching OMIM:602428 HAS3 skos:exactMatch ncbigene:3038 semapv:UnspecifiedMatching -OMIM:602430 ROBO1 skos:exactMatch hgnc:ROBO1 semapv:UnspecifiedMatching +OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:10249 semapv:UnspecifiedMatching +OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:ROBO1 semapv:UnspecifiedMatching OMIM:602430 ROBO1 skos:exactMatch ncbigene:6091 semapv:UnspecifiedMatching -OMIM:602431 ROBO2 skos:exactMatch hgnc:ROBO2 semapv:UnspecifiedMatching +OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:10250 semapv:UnspecifiedMatching +OMIM:602431 ROBO2 skos:exactMatch hgnc.symbol:ROBO2 semapv:UnspecifiedMatching OMIM:602431 ROBO2 skos:exactMatch ncbigene:6092 semapv:UnspecifiedMatching -OMIM:602432 OPTN skos:exactMatch hgnc:OPTN semapv:UnspecifiedMatching +OMIM:602432 OPTN skos:exactMatch hgnc.symbol:17142 semapv:UnspecifiedMatching +OMIM:602432 OPTN skos:exactMatch hgnc.symbol:OPTN semapv:UnspecifiedMatching OMIM:602432 OPTN skos:exactMatch ncbigene:10133 semapv:UnspecifiedMatching -OMIM:602434 AUP1 skos:exactMatch hgnc:AUP1 semapv:UnspecifiedMatching +OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:891 semapv:UnspecifiedMatching +OMIM:602434 AUP1 skos:exactMatch hgnc.symbol:AUP1 semapv:UnspecifiedMatching OMIM:602434 AUP1 skos:exactMatch ncbigene:550 semapv:UnspecifiedMatching -OMIM:602435 PPIE skos:exactMatch hgnc:PPIE semapv:UnspecifiedMatching +OMIM:602435 PPIE skos:exactMatch hgnc.symbol:9258 semapv:UnspecifiedMatching +OMIM:602435 PPIE skos:exactMatch hgnc.symbol:PPIE semapv:UnspecifiedMatching OMIM:602435 PPIE skos:exactMatch ncbigene:10450 semapv:UnspecifiedMatching -OMIM:602436 MICB skos:exactMatch hgnc:MICB semapv:UnspecifiedMatching +OMIM:602436 MICB skos:exactMatch hgnc.symbol:7091 semapv:UnspecifiedMatching +OMIM:602436 MICB skos:exactMatch hgnc.symbol:MICB semapv:UnspecifiedMatching OMIM:602436 MICB skos:exactMatch ncbigene:4277 semapv:UnspecifiedMatching -OMIM:602437 GCHFR skos:exactMatch hgnc:GCHFR semapv:UnspecifiedMatching +OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:4194 semapv:UnspecifiedMatching +OMIM:602437 GCHFR skos:exactMatch hgnc.symbol:GCHFR semapv:UnspecifiedMatching OMIM:602437 GCHFR skos:exactMatch ncbigene:2644 semapv:UnspecifiedMatching -OMIM:602438 HSF4 skos:exactMatch hgnc:HSF4 semapv:UnspecifiedMatching +OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:5227 semapv:UnspecifiedMatching +OMIM:602438 HSF4 skos:exactMatch hgnc.symbol:HSF4 semapv:UnspecifiedMatching OMIM:602438 HSF4 skos:exactMatch ncbigene:3299 semapv:UnspecifiedMatching -OMIM:602441 CISH skos:exactMatch hgnc:CISH semapv:UnspecifiedMatching +OMIM:602441 CISH skos:exactMatch hgnc.symbol:1984 semapv:UnspecifiedMatching +OMIM:602441 CISH skos:exactMatch hgnc.symbol:CISH semapv:UnspecifiedMatching OMIM:602441 CISH skos:exactMatch ncbigene:1154 semapv:UnspecifiedMatching -OMIM:602442 ITSN1 skos:exactMatch hgnc:ITSN1 semapv:UnspecifiedMatching +OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:6183 semapv:UnspecifiedMatching +OMIM:602442 ITSN1 skos:exactMatch hgnc.symbol:ITSN1 semapv:UnspecifiedMatching OMIM:602442 ITSN1 skos:exactMatch ncbigene:6453 semapv:UnspecifiedMatching -OMIM:602443 XPNPEP1 skos:exactMatch hgnc:XPNPEP1 semapv:UnspecifiedMatching +OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:12822 semapv:UnspecifiedMatching +OMIM:602443 XPNPEP1 skos:exactMatch hgnc.symbol:XPNPEP1 semapv:UnspecifiedMatching OMIM:602443 XPNPEP1 skos:exactMatch ncbigene:7511 semapv:UnspecifiedMatching -OMIM:602444 ZNF354A skos:exactMatch hgnc:ZNF354A semapv:UnspecifiedMatching +OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:11628 semapv:UnspecifiedMatching +OMIM:602444 ZNF354A skos:exactMatch hgnc.symbol:ZNF354A semapv:UnspecifiedMatching OMIM:602444 ZNF354A skos:exactMatch ncbigene:6940 semapv:UnspecifiedMatching -OMIM:602445 SERPINI1 skos:exactMatch hgnc:SERPINI1 semapv:UnspecifiedMatching +OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:8943 semapv:UnspecifiedMatching +OMIM:602445 SERPINI1 skos:exactMatch hgnc.symbol:SERPINI1 semapv:UnspecifiedMatching OMIM:602445 SERPINI1 skos:exactMatch ncbigene:5274 semapv:UnspecifiedMatching -OMIM:602446 GPC5 skos:exactMatch hgnc:GPC5 semapv:UnspecifiedMatching +OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:4453 semapv:UnspecifiedMatching +OMIM:602446 GPC5 skos:exactMatch hgnc.symbol:GPC5 semapv:UnspecifiedMatching OMIM:602446 GPC5 skos:exactMatch ncbigene:2262 semapv:UnspecifiedMatching OMIM:602447 PON2 skos:exactMatch UMLS:C1418755 semapv:UnspecifiedMatching OMIM:602447 PON2 skos:exactMatch UMLS:C4016795 semapv:UnspecifiedMatching -OMIM:602447 PON2 skos:exactMatch hgnc:PON2 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch hgnc.symbol:9205 semapv:UnspecifiedMatching +OMIM:602447 PON2 skos:exactMatch hgnc.symbol:PON2 semapv:UnspecifiedMatching OMIM:602447 PON2 skos:exactMatch ncbigene:5445 semapv:UnspecifiedMatching -OMIM:602448 MAP3K5 skos:exactMatch hgnc:MAP3K5 semapv:UnspecifiedMatching +OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:6857 semapv:UnspecifiedMatching +OMIM:602448 MAP3K5 skos:exactMatch hgnc.symbol:MAP3K5 semapv:UnspecifiedMatching OMIM:602448 MAP3K5 skos:exactMatch ncbigene:4217 semapv:UnspecifiedMatching -OMIM:602449 AKAP1 skos:exactMatch hgnc:AKAP1 semapv:UnspecifiedMatching +OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:367 semapv:UnspecifiedMatching +OMIM:602449 AKAP1 skos:exactMatch hgnc.symbol:AKAP1 semapv:UnspecifiedMatching OMIM:602449 AKAP1 skos:exactMatch ncbigene:8165 semapv:UnspecifiedMatching -OMIM:602451 P2RY6 skos:exactMatch hgnc:P2RY6 semapv:UnspecifiedMatching +OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:8543 semapv:UnspecifiedMatching +OMIM:602451 P2RY6 skos:exactMatch hgnc.symbol:P2RY6 semapv:UnspecifiedMatching OMIM:602451 P2RY6 skos:exactMatch ncbigene:5031 semapv:UnspecifiedMatching -OMIM:602452 BUB1 skos:exactMatch hgnc:BUB1 semapv:UnspecifiedMatching +OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:1148 semapv:UnspecifiedMatching +OMIM:602452 BUB1 skos:exactMatch hgnc.symbol:BUB1 semapv:UnspecifiedMatching OMIM:602452 BUB1 skos:exactMatch ncbigene:699 semapv:UnspecifiedMatching -OMIM:602453 ITGAD skos:exactMatch hgnc:ITGAD semapv:UnspecifiedMatching +OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:6146 semapv:UnspecifiedMatching +OMIM:602453 ITGAD skos:exactMatch hgnc.symbol:ITGAD semapv:UnspecifiedMatching OMIM:602453 ITGAD skos:exactMatch ncbigene:3681 semapv:UnspecifiedMatching -OMIM:602454 PTPRU skos:exactMatch hgnc:PTPRU semapv:UnspecifiedMatching +OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:9683 semapv:UnspecifiedMatching +OMIM:602454 PTPRU skos:exactMatch hgnc.symbol:PTPRU semapv:UnspecifiedMatching OMIM:602454 PTPRU skos:exactMatch ncbigene:10076 semapv:UnspecifiedMatching -OMIM:602457 FADD skos:exactMatch hgnc:FADD semapv:UnspecifiedMatching +OMIM:602457 FADD skos:exactMatch hgnc.symbol:3573 semapv:UnspecifiedMatching +OMIM:602457 FADD skos:exactMatch hgnc.symbol:FADD semapv:UnspecifiedMatching OMIM:602457 FADD skos:exactMatch ncbigene:8772 semapv:UnspecifiedMatching -OMIM:602458 SORT1 skos:exactMatch hgnc:SORT1 semapv:UnspecifiedMatching +OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:11186 semapv:UnspecifiedMatching +OMIM:602458 SORT1 skos:exactMatch hgnc.symbol:SORT1 semapv:UnspecifiedMatching OMIM:602458 SORT1 skos:exactMatch ncbigene:6272 semapv:UnspecifiedMatching -OMIM:602460 POU4F3 skos:exactMatch hgnc:POU4F3 semapv:UnspecifiedMatching +OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:9220 semapv:UnspecifiedMatching +OMIM:602460 POU4F3 skos:exactMatch hgnc.symbol:POU4F3 semapv:UnspecifiedMatching OMIM:602460 POU4F3 skos:exactMatch ncbigene:5459 semapv:UnspecifiedMatching -OMIM:602461 PTPNS1 skos:exactMatch hgnc:SIRPA semapv:UnspecifiedMatching +OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:9662 semapv:UnspecifiedMatching +OMIM:602461 PTPNS1 skos:exactMatch hgnc.symbol:SIRPA semapv:UnspecifiedMatching OMIM:602461 PTPNS1 skos:exactMatch ncbigene:140885 semapv:UnspecifiedMatching -OMIM:602462 CRMP1 skos:exactMatch hgnc:CRMP1 semapv:UnspecifiedMatching +OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:2365 semapv:UnspecifiedMatching +OMIM:602462 CRMP1 skos:exactMatch hgnc.symbol:CRMP1 semapv:UnspecifiedMatching OMIM:602462 CRMP1 skos:exactMatch ncbigene:1400 semapv:UnspecifiedMatching -OMIM:602463 DPYSL2 skos:exactMatch hgnc:DPYSL2 semapv:UnspecifiedMatching +OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:3014 semapv:UnspecifiedMatching +OMIM:602463 DPYSL2 skos:exactMatch hgnc.symbol:DPYSL2 semapv:UnspecifiedMatching OMIM:602463 DPYSL2 skos:exactMatch ncbigene:1808 semapv:UnspecifiedMatching -OMIM:602464 TRAF4 skos:exactMatch hgnc:TRAF4 semapv:UnspecifiedMatching +OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:12034 semapv:UnspecifiedMatching +OMIM:602464 TRAF4 skos:exactMatch hgnc.symbol:TRAF4 semapv:UnspecifiedMatching OMIM:602464 TRAF4 skos:exactMatch ncbigene:9618 semapv:UnspecifiedMatching -OMIM:602465 SPRY1 skos:exactMatch hgnc:SPRY1 semapv:UnspecifiedMatching +OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:11269 semapv:UnspecifiedMatching +OMIM:602465 SPRY1 skos:exactMatch hgnc.symbol:SPRY1 semapv:UnspecifiedMatching OMIM:602465 SPRY1 skos:exactMatch ncbigene:10252 semapv:UnspecifiedMatching -OMIM:602466 SPRY2 skos:exactMatch hgnc:SPRY2 semapv:UnspecifiedMatching +OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:11270 semapv:UnspecifiedMatching +OMIM:602466 SPRY2 skos:exactMatch hgnc.symbol:SPRY2 semapv:UnspecifiedMatching OMIM:602466 SPRY2 skos:exactMatch ncbigene:10253 semapv:UnspecifiedMatching -OMIM:602468 PPP1R9A skos:exactMatch hgnc:PPP1R9A semapv:UnspecifiedMatching +OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:14946 semapv:UnspecifiedMatching +OMIM:602468 PPP1R9A skos:exactMatch hgnc.symbol:PPP1R9A semapv:UnspecifiedMatching OMIM:602468 PPP1R9A skos:exactMatch ncbigene:55607 semapv:UnspecifiedMatching -OMIM:602469 FOLR3 skos:exactMatch hgnc:FOLR3 semapv:UnspecifiedMatching +OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:3795 semapv:UnspecifiedMatching +OMIM:602469 FOLR3 skos:exactMatch hgnc.symbol:FOLR3 semapv:UnspecifiedMatching OMIM:602469 FOLR3 skos:exactMatch ncbigene:2352 semapv:UnspecifiedMatching -OMIM:602470 PSCA skos:exactMatch hgnc:PSCA semapv:UnspecifiedMatching +OMIM:602470 PSCA skos:exactMatch hgnc.symbol:9500 semapv:UnspecifiedMatching +OMIM:602470 PSCA skos:exactMatch hgnc.symbol:PSCA semapv:UnspecifiedMatching OMIM:602470 PSCA skos:exactMatch ncbigene:8000 semapv:UnspecifiedMatching -OMIM:602474 PKMYT1 skos:exactMatch hgnc:PKMYT1 semapv:UnspecifiedMatching +OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:29650 semapv:UnspecifiedMatching +OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:PKMYT1 semapv:UnspecifiedMatching OMIM:602474 PKMYT1 skos:exactMatch ncbigene:9088 semapv:UnspecifiedMatching -OMIM:602478 TRDMT1 skos:exactMatch hgnc:TRDMT1 semapv:UnspecifiedMatching +OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:2977 semapv:UnspecifiedMatching +OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:TRDMT1 semapv:UnspecifiedMatching OMIM:602478 TRDMT1 skos:exactMatch ncbigene:1787 semapv:UnspecifiedMatching -OMIM:602479 POU3F1 skos:exactMatch hgnc:POU3F1 semapv:UnspecifiedMatching +OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:9214 semapv:UnspecifiedMatching +OMIM:602479 POU3F1 skos:exactMatch hgnc.symbol:POU3F1 semapv:UnspecifiedMatching OMIM:602479 POU3F1 skos:exactMatch ncbigene:5453 semapv:UnspecifiedMatching OMIM:602480 POU3F3 skos:exactMatch UMLS:C1418763 semapv:UnspecifiedMatching OMIM:602480 POU3F3 skos:exactMatch UMLS:C5231424 semapv:UnspecifiedMatching -OMIM:602480 POU3F3 skos:exactMatch hgnc:POU3F3 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:9216 semapv:UnspecifiedMatching +OMIM:602480 POU3F3 skos:exactMatch hgnc.symbol:POU3F3 semapv:UnspecifiedMatching OMIM:602480 POU3F3 skos:exactMatch ncbigene:5455 semapv:UnspecifiedMatching -OMIM:602486 POP1 skos:exactMatch hgnc:POP1 semapv:UnspecifiedMatching +OMIM:602486 POP1 skos:exactMatch hgnc.symbol:30129 semapv:UnspecifiedMatching +OMIM:602486 POP1 skos:exactMatch hgnc.symbol:POP1 semapv:UnspecifiedMatching OMIM:602486 POP1 skos:exactMatch ncbigene:10940 semapv:UnspecifiedMatching -OMIM:602487 HRSP12 skos:exactMatch hgnc:RIDA semapv:UnspecifiedMatching +OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:16897 semapv:UnspecifiedMatching +OMIM:602487 HRSP12 skos:exactMatch hgnc.symbol:RIDA semapv:UnspecifiedMatching OMIM:602487 HRSP12 skos:exactMatch ncbigene:10247 semapv:UnspecifiedMatching -OMIM:602488 CYTH2 skos:exactMatch hgnc:CYTH2 semapv:UnspecifiedMatching +OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:9502 semapv:UnspecifiedMatching +OMIM:602488 CYTH2 skos:exactMatch hgnc.symbol:CYTH2 semapv:UnspecifiedMatching OMIM:602488 CYTH2 skos:exactMatch ncbigene:9266 semapv:UnspecifiedMatching OMIM:602489 KHDRBS1 skos:exactMatch UMLS:C1425322 semapv:UnspecifiedMatching -OMIM:602489 KHDRBS1 skos:exactMatch hgnc:KHDRBS1 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:18116 semapv:UnspecifiedMatching +OMIM:602489 KHDRBS1 skos:exactMatch hgnc.symbol:KHDRBS1 semapv:UnspecifiedMatching OMIM:602489 KHDRBS1 skos:exactMatch ncbigene:10657 semapv:UnspecifiedMatching -OMIM:602490 NRIP1 skos:exactMatch hgnc:NRIP1 semapv:UnspecifiedMatching +OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:8001 semapv:UnspecifiedMatching +OMIM:602490 NRIP1 skos:exactMatch hgnc.symbol:NRIP1 semapv:UnspecifiedMatching OMIM:602490 NRIP1 skos:exactMatch ncbigene:8204 semapv:UnspecifiedMatching -OMIM:602492 PTX3 skos:exactMatch hgnc:PTX3 semapv:UnspecifiedMatching +OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:9692 semapv:UnspecifiedMatching +OMIM:602492 PTX3 skos:exactMatch hgnc.symbol:PTX3 semapv:UnspecifiedMatching OMIM:602492 PTX3 skos:exactMatch ncbigene:5806 semapv:UnspecifiedMatching -OMIM:602493 UVRAG skos:exactMatch hgnc:UVRAG semapv:UnspecifiedMatching +OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:12640 semapv:UnspecifiedMatching +OMIM:602493 UVRAG skos:exactMatch hgnc.symbol:UVRAG semapv:UnspecifiedMatching OMIM:602493 UVRAG skos:exactMatch ncbigene:7405 semapv:UnspecifiedMatching -OMIM:602494 CCL23 skos:exactMatch hgnc:CCL23 semapv:UnspecifiedMatching +OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:10622 semapv:UnspecifiedMatching +OMIM:602494 CCL23 skos:exactMatch hgnc.symbol:CCL23 semapv:UnspecifiedMatching OMIM:602494 CCL23 skos:exactMatch ncbigene:6368 semapv:UnspecifiedMatching -OMIM:602495 CCL24 skos:exactMatch hgnc:CCL24 semapv:UnspecifiedMatching +OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:10623 semapv:UnspecifiedMatching +OMIM:602495 CCL24 skos:exactMatch hgnc.symbol:CCL24 semapv:UnspecifiedMatching OMIM:602495 CCL24 skos:exactMatch ncbigene:6369 semapv:UnspecifiedMatching -OMIM:602496 MPST skos:exactMatch hgnc:MPST semapv:UnspecifiedMatching +OMIM:602496 MPST skos:exactMatch hgnc.symbol:7223 semapv:UnspecifiedMatching +OMIM:602496 MPST skos:exactMatch hgnc.symbol:MPST semapv:UnspecifiedMatching OMIM:602496 MPST skos:exactMatch ncbigene:4357 semapv:UnspecifiedMatching -OMIM:602498 TFG skos:exactMatch hgnc:TFG semapv:UnspecifiedMatching +OMIM:602498 TFG skos:exactMatch hgnc.symbol:11758 semapv:UnspecifiedMatching +OMIM:602498 TFG skos:exactMatch hgnc.symbol:TFG semapv:UnspecifiedMatching OMIM:602498 TFG skos:exactMatch ncbigene:10342 semapv:UnspecifiedMatching -OMIM:602500 GOLGB1 skos:exactMatch hgnc:GOLGB1 semapv:UnspecifiedMatching +OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:4429 semapv:UnspecifiedMatching +OMIM:602500 GOLGB1 skos:exactMatch hgnc.symbol:GOLGB1 semapv:UnspecifiedMatching OMIM:602500 GOLGB1 skos:exactMatch ncbigene:2804 semapv:UnspecifiedMatching +OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 semapv:UnspecifiedMatching OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch UMLS:C1865285 semapv:UnspecifiedMatching -OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch orphanet.ordo:60040 semapv:UnspecifiedMatching -OMIM:602502 GOLGA1 skos:exactMatch hgnc:GOLGA1 semapv:UnspecifiedMatching +OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:4424 semapv:UnspecifiedMatching +OMIM:602502 GOLGA1 skos:exactMatch hgnc.symbol:GOLGA1 semapv:UnspecifiedMatching OMIM:602502 GOLGA1 skos:exactMatch ncbigene:2800 semapv:UnspecifiedMatching -OMIM:602503 FRAT1 skos:exactMatch hgnc:FRAT1 semapv:UnspecifiedMatching +OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:3944 semapv:UnspecifiedMatching +OMIM:602503 FRAT1 skos:exactMatch hgnc.symbol:FRAT1 semapv:UnspecifiedMatching OMIM:602503 FRAT1 skos:exactMatch ncbigene:10023 semapv:UnspecifiedMatching -OMIM:602504 SHOX2 skos:exactMatch hgnc:SHOX2 semapv:UnspecifiedMatching +OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:10854 semapv:UnspecifiedMatching +OMIM:602504 SHOX2 skos:exactMatch hgnc.symbol:SHOX2 semapv:UnspecifiedMatching OMIM:602504 SHOX2 skos:exactMatch ncbigene:6474 semapv:UnspecifiedMatching -OMIM:602505 PXN skos:exactMatch hgnc:PXN semapv:UnspecifiedMatching +OMIM:602505 PXN skos:exactMatch hgnc.symbol:9718 semapv:UnspecifiedMatching +OMIM:602505 PXN skos:exactMatch hgnc.symbol:PXN semapv:UnspecifiedMatching OMIM:602505 PXN skos:exactMatch ncbigene:5829 semapv:UnspecifiedMatching -OMIM:602507 RNF103 skos:exactMatch hgnc:RNF103 semapv:UnspecifiedMatching +OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:12859 semapv:UnspecifiedMatching +OMIM:602507 RNF103 skos:exactMatch hgnc.symbol:RNF103 semapv:UnspecifiedMatching OMIM:602507 RNF103 skos:exactMatch ncbigene:7844 semapv:UnspecifiedMatching -OMIM:602508 PAFAH1B2 skos:exactMatch hgnc:PAFAH1B2 semapv:UnspecifiedMatching +OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:8575 semapv:UnspecifiedMatching +OMIM:602508 PAFAH1B2 skos:exactMatch hgnc.symbol:PAFAH1B2 semapv:UnspecifiedMatching OMIM:602508 PAFAH1B2 skos:exactMatch ncbigene:5049 semapv:UnspecifiedMatching -OMIM:602509 GOLGA4 skos:exactMatch hgnc:GOLGA4 semapv:UnspecifiedMatching +OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:4427 semapv:UnspecifiedMatching +OMIM:602509 GOLGA4 skos:exactMatch hgnc.symbol:GOLGA4 semapv:UnspecifiedMatching OMIM:602509 GOLGA4 skos:exactMatch ncbigene:2803 semapv:UnspecifiedMatching -OMIM:602510 PTPRH skos:exactMatch hgnc:PTPRH semapv:UnspecifiedMatching +OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:9672 semapv:UnspecifiedMatching +OMIM:602510 PTPRH skos:exactMatch hgnc.symbol:PTPRH semapv:UnspecifiedMatching OMIM:602510 PTPRH skos:exactMatch ncbigene:5794 semapv:UnspecifiedMatching -OMIM:602512 RGS12 skos:exactMatch hgnc:RGS12 semapv:UnspecifiedMatching +OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:9994 semapv:UnspecifiedMatching +OMIM:602512 RGS12 skos:exactMatch hgnc.symbol:RGS12 semapv:UnspecifiedMatching OMIM:602512 RGS12 skos:exactMatch ncbigene:6002 semapv:UnspecifiedMatching -OMIM:602513 RGS14 skos:exactMatch hgnc:RGS14 semapv:UnspecifiedMatching +OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:9996 semapv:UnspecifiedMatching +OMIM:602513 RGS14 skos:exactMatch hgnc.symbol:RGS14 semapv:UnspecifiedMatching OMIM:602513 RGS14 skos:exactMatch ncbigene:10636 semapv:UnspecifiedMatching -OMIM:602514 RGS16 skos:exactMatch hgnc:RGS16 semapv:UnspecifiedMatching +OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:9997 semapv:UnspecifiedMatching +OMIM:602514 RGS16 skos:exactMatch hgnc.symbol:RGS16 semapv:UnspecifiedMatching OMIM:602514 RGS16 skos:exactMatch ncbigene:6004 semapv:UnspecifiedMatching OMIM:602515 GPLD1 skos:exactMatch UMLS:C1415202 semapv:UnspecifiedMatching -OMIM:602515 GPLD1 skos:exactMatch hgnc:GPLD1 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:4459 semapv:UnspecifiedMatching +OMIM:602515 GPLD1 skos:exactMatch hgnc.symbol:GPLD1 semapv:UnspecifiedMatching OMIM:602515 GPLD1 skos:exactMatch ncbigene:2822 semapv:UnspecifiedMatching -OMIM:602516 RGS4 skos:exactMatch hgnc:RGS4 semapv:UnspecifiedMatching +OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:10000 semapv:UnspecifiedMatching +OMIM:602516 RGS4 skos:exactMatch hgnc.symbol:RGS4 semapv:UnspecifiedMatching OMIM:602516 RGS4 skos:exactMatch ncbigene:5999 semapv:UnspecifiedMatching -OMIM:602517 RGS7 skos:exactMatch hgnc:RGS7 semapv:UnspecifiedMatching +OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:10003 semapv:UnspecifiedMatching +OMIM:602517 RGS7 skos:exactMatch hgnc.symbol:RGS7 semapv:UnspecifiedMatching OMIM:602517 RGS7 skos:exactMatch ncbigene:6000 semapv:UnspecifiedMatching -OMIM:602518 LGALS4 skos:exactMatch hgnc:LGALS4 semapv:UnspecifiedMatching +OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:6565 semapv:UnspecifiedMatching +OMIM:602518 LGALS4 skos:exactMatch hgnc.symbol:LGALS4 semapv:UnspecifiedMatching OMIM:602518 LGALS4 skos:exactMatch ncbigene:3960 semapv:UnspecifiedMatching OMIM:602519 USP7 skos:exactMatch UMLS:C1421408 semapv:UnspecifiedMatching OMIM:602519 USP7 skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching -OMIM:602519 USP7 skos:exactMatch hgnc:USP7 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch hgnc.symbol:12630 semapv:UnspecifiedMatching +OMIM:602519 USP7 skos:exactMatch hgnc.symbol:USP7 semapv:UnspecifiedMatching OMIM:602519 USP7 skos:exactMatch ncbigene:7874 semapv:UnspecifiedMatching -OMIM:602520 MAP2K5 skos:exactMatch hgnc:MAP2K5 semapv:UnspecifiedMatching +OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:6845 semapv:UnspecifiedMatching +OMIM:602520 MAP2K5 skos:exactMatch hgnc.symbol:MAP2K5 semapv:UnspecifiedMatching OMIM:602520 MAP2K5 skos:exactMatch ncbigene:5607 semapv:UnspecifiedMatching -OMIM:602521 MAPK7 skos:exactMatch hgnc:MAPK7 semapv:UnspecifiedMatching +OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:6880 semapv:UnspecifiedMatching +OMIM:602521 MAPK7 skos:exactMatch hgnc.symbol:MAPK7 semapv:UnspecifiedMatching OMIM:602521 MAPK7 skos:exactMatch ncbigene:5598 semapv:UnspecifiedMatching -OMIM:602523 DSCAM skos:exactMatch hgnc:DSCAM semapv:UnspecifiedMatching +OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:3039 semapv:UnspecifiedMatching +OMIM:602523 DSCAM skos:exactMatch hgnc.symbol:DSCAM semapv:UnspecifiedMatching OMIM:602523 DSCAM skos:exactMatch ncbigene:1826 semapv:UnspecifiedMatching -OMIM:602524 PDK1 skos:exactMatch hgnc:PDK1 semapv:UnspecifiedMatching +OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:8809 semapv:UnspecifiedMatching +OMIM:602524 PDK1 skos:exactMatch hgnc.symbol:PDK1 semapv:UnspecifiedMatching OMIM:602524 PDK1 skos:exactMatch ncbigene:5163 semapv:UnspecifiedMatching -OMIM:602525 PDK2 skos:exactMatch hgnc:PDK2 semapv:UnspecifiedMatching +OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:8810 semapv:UnspecifiedMatching +OMIM:602525 PDK2 skos:exactMatch hgnc.symbol:PDK2 semapv:UnspecifiedMatching OMIM:602525 PDK2 skos:exactMatch ncbigene:5164 semapv:UnspecifiedMatching -OMIM:602527 PDK4 skos:exactMatch hgnc:PDK4 semapv:UnspecifiedMatching +OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:8812 semapv:UnspecifiedMatching +OMIM:602527 PDK4 skos:exactMatch hgnc.symbol:PDK4 semapv:UnspecifiedMatching OMIM:602527 PDK4 skos:exactMatch ncbigene:5166 semapv:UnspecifiedMatching -OMIM:602528 TUBA3C skos:exactMatch hgnc:TUBA3C semapv:UnspecifiedMatching +OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:12408 semapv:UnspecifiedMatching +OMIM:602528 TUBA3C skos:exactMatch hgnc.symbol:TUBA3C semapv:UnspecifiedMatching OMIM:602528 TUBA3C skos:exactMatch ncbigene:7278 semapv:UnspecifiedMatching -OMIM:602529 TUBA1A skos:exactMatch hgnc:TUBA1A semapv:UnspecifiedMatching +OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:20766 semapv:UnspecifiedMatching +OMIM:602529 TUBA1A skos:exactMatch hgnc.symbol:TUBA1A semapv:UnspecifiedMatching OMIM:602529 TUBA1A skos:exactMatch ncbigene:7846 semapv:UnspecifiedMatching OMIM:602530 TUBA1B skos:exactMatch UMLS:C1865268 semapv:UnspecifiedMatching -OMIM:602530 TUBA1B skos:exactMatch hgnc:TUBA1B semapv:UnspecifiedMatching +OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:18809 semapv:UnspecifiedMatching +OMIM:602530 TUBA1B skos:exactMatch hgnc.symbol:TUBA1B semapv:UnspecifiedMatching OMIM:602530 TUBA1B skos:exactMatch ncbigene:10376 semapv:UnspecifiedMatching +OMIM:602531 grange syndrome skos:exactMatch Orphanet:79094 semapv:UnspecifiedMatching OMIM:602531 grange syndrome skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching -OMIM:602531 grange syndrome skos:exactMatch orphanet.ordo:79094 semapv:UnspecifiedMatching -OMIM:602532 RNF217AS1 skos:exactMatch hgnc:RNF217-AS1 semapv:UnspecifiedMatching +OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:50866 semapv:UnspecifiedMatching +OMIM:602532 RNF217AS1 skos:exactMatch hgnc.symbol:RNF217-AS1 semapv:UnspecifiedMatching OMIM:602532 RNF217AS1 skos:exactMatch ncbigene:7955 semapv:UnspecifiedMatching -OMIM:602533 DJ1 skos:exactMatch hgnc:PARK7 semapv:UnspecifiedMatching +OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:16369 semapv:UnspecifiedMatching +OMIM:602533 DJ1 skos:exactMatch hgnc.symbol:PARK7 semapv:UnspecifiedMatching OMIM:602533 DJ1 skos:exactMatch ncbigene:11315 semapv:UnspecifiedMatching -OMIM:602534 SNAP23 skos:exactMatch hgnc:SNAP23 semapv:UnspecifiedMatching +OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:11131 semapv:UnspecifiedMatching +OMIM:602534 SNAP23 skos:exactMatch hgnc.symbol:SNAP23 semapv:UnspecifiedMatching OMIM:602534 SNAP23 skos:exactMatch ncbigene:8773 semapv:UnspecifiedMatching +OMIM:602535 marshall-smith syndrome skos:exactMatch Orphanet:561 semapv:UnspecifiedMatching OMIM:602535 marshall-smith syndrome skos:exactMatch UMLS:C0265211 semapv:UnspecifiedMatching -OMIM:602535 marshall-smith syndrome skos:exactMatch orphanet.ordo:561 semapv:UnspecifiedMatching -OMIM:602536 RAB3GAP1 skos:exactMatch hgnc:RAB3GAP1 semapv:UnspecifiedMatching +OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:17063 semapv:UnspecifiedMatching +OMIM:602536 RAB3GAP1 skos:exactMatch hgnc.symbol:RAB3GAP1 semapv:UnspecifiedMatching OMIM:602536 RAB3GAP1 skos:exactMatch ncbigene:22930 semapv:UnspecifiedMatching -OMIM:602537 CAPN5 skos:exactMatch hgnc:CAPN5 semapv:UnspecifiedMatching +OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:1482 semapv:UnspecifiedMatching +OMIM:602537 CAPN5 skos:exactMatch hgnc.symbol:CAPN5 semapv:UnspecifiedMatching OMIM:602537 CAPN5 skos:exactMatch ncbigene:726 semapv:UnspecifiedMatching -OMIM:602538 CELF2 skos:exactMatch hgnc:CELF2 semapv:UnspecifiedMatching +OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:2550 semapv:UnspecifiedMatching +OMIM:602538 CELF2 skos:exactMatch hgnc.symbol:CELF2 semapv:UnspecifiedMatching OMIM:602538 CELF2 skos:exactMatch ncbigene:10659 semapv:UnspecifiedMatching -OMIM:602539 MAP3K3 skos:exactMatch hgnc:MAP3K3 semapv:UnspecifiedMatching +OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:6855 semapv:UnspecifiedMatching +OMIM:602539 MAP3K3 skos:exactMatch hgnc.symbol:MAP3K3 semapv:UnspecifiedMatching OMIM:602539 MAP3K3 skos:exactMatch ncbigene:4215 semapv:UnspecifiedMatching +OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch Orphanet:477 semapv:UnspecifiedMatching OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch UMLS:C1865234 semapv:UnspecifiedMatching -OMIM:602540 ichthyosis, hystrix-like, with deafness skos:exactMatch orphanet.ordo:477 semapv:UnspecifiedMatching -OMIM:602542 BTF3 skos:exactMatch hgnc:BTF3 semapv:UnspecifiedMatching +OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:1125 semapv:UnspecifiedMatching +OMIM:602542 BTF3 skos:exactMatch hgnc.symbol:BTF3 semapv:UnspecifiedMatching OMIM:602542 BTF3 skos:exactMatch ncbigene:689 semapv:UnspecifiedMatching -OMIM:602543 BTF3P11 skos:exactMatch hgnc:BTF3P11 semapv:UnspecifiedMatching +OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:1126 semapv:UnspecifiedMatching +OMIM:602543 BTF3P11 skos:exactMatch hgnc.symbol:BTF3P11 semapv:UnspecifiedMatching OMIM:602543 BTF3P11 skos:exactMatch ncbigene:690 semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch UMLS:C1418270 semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch UMLS:C1868675 semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch UMLS:C1969537 semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch UMLS:C3838632 semapv:UnspecifiedMatching -OMIM:602544 PRKN skos:exactMatch hgnc:PRKN semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch hgnc.symbol:8607 semapv:UnspecifiedMatching +OMIM:602544 PRKN skos:exactMatch hgnc.symbol:PRKN semapv:UnspecifiedMatching OMIM:602544 PRKN skos:exactMatch ncbigene:5071 semapv:UnspecifiedMatching -OMIM:602545 PTPRK skos:exactMatch hgnc:PTPRK semapv:UnspecifiedMatching +OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:9674 semapv:UnspecifiedMatching +OMIM:602545 PTPRK skos:exactMatch hgnc.symbol:PTPRK semapv:UnspecifiedMatching OMIM:602545 PTPRK skos:exactMatch ncbigene:5796 semapv:UnspecifiedMatching -OMIM:602546 ST8SIA2 skos:exactMatch hgnc:ST8SIA2 semapv:UnspecifiedMatching +OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:10870 semapv:UnspecifiedMatching +OMIM:602546 ST8SIA2 skos:exactMatch hgnc.symbol:ST8SIA2 semapv:UnspecifiedMatching OMIM:602546 ST8SIA2 skos:exactMatch ncbigene:8128 semapv:UnspecifiedMatching -OMIM:602547 ST8SIA4 skos:exactMatch hgnc:ST8SIA4 semapv:UnspecifiedMatching +OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:10871 semapv:UnspecifiedMatching +OMIM:602547 ST8SIA4 skos:exactMatch hgnc.symbol:ST8SIA4 semapv:UnspecifiedMatching OMIM:602547 ST8SIA4 skos:exactMatch ncbigene:7903 semapv:UnspecifiedMatching -OMIM:602548 OPRL1 skos:exactMatch hgnc:OPRL1 semapv:UnspecifiedMatching +OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:8155 semapv:UnspecifiedMatching +OMIM:602548 OPRL1 skos:exactMatch hgnc.symbol:OPRL1 semapv:UnspecifiedMatching OMIM:602548 OPRL1 skos:exactMatch ncbigene:4987 semapv:UnspecifiedMatching -OMIM:602549 PKN2 skos:exactMatch hgnc:PKN2 semapv:UnspecifiedMatching +OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:9406 semapv:UnspecifiedMatching +OMIM:602549 PKN2 skos:exactMatch hgnc.symbol:PKN2 semapv:UnspecifiedMatching OMIM:602549 PKN2 skos:exactMatch ncbigene:5586 semapv:UnspecifiedMatching OMIM:602550 BMAL1 skos:exactMatch UMLS:C1412544 semapv:UnspecifiedMatching -OMIM:602550 BMAL1 skos:exactMatch hgnc:BMAL1 semapv:UnspecifiedMatching +OMIM:602550 BMAL1 skos:exactMatch hgnc.symbol:BMAL1 semapv:UnspecifiedMatching OMIM:602550 BMAL1 skos:exactMatch ncbigene:406 semapv:UnspecifiedMatching -OMIM:602552 NUP88 skos:exactMatch hgnc:NUP88 semapv:UnspecifiedMatching +OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:8067 semapv:UnspecifiedMatching +OMIM:602552 NUP88 skos:exactMatch hgnc.symbol:NUP88 semapv:UnspecifiedMatching OMIM:602552 NUP88 skos:exactMatch ncbigene:4927 semapv:UnspecifiedMatching +OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch Orphanet:93352 semapv:UnspecifiedMatching OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch UMLS:C1865185 semapv:UnspecifiedMatching -OMIM:602557 spondyloepimetaphyseal dysplasia, shohat iia skos:exactMatch orphanet.ordo:93352 semapv:UnspecifiedMatching -OMIM:602559 XPO1 skos:exactMatch hgnc:XPO1 semapv:UnspecifiedMatching +OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:12825 semapv:UnspecifiedMatching +OMIM:602559 XPO1 skos:exactMatch hgnc.symbol:XPO1 semapv:UnspecifiedMatching OMIM:602559 XPO1 skos:exactMatch ncbigene:7514 semapv:UnspecifiedMatching OMIM:602563 NKX6-1 skos:exactMatch UMLS:C1417738 semapv:UnspecifiedMatching -OMIM:602563 NKX6-1 skos:exactMatch hgnc:NKX6-1 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:7839 semapv:UnspecifiedMatching +OMIM:602563 NKX6-1 skos:exactMatch hgnc.symbol:NKX6-1 semapv:UnspecifiedMatching OMIM:602563 NKX6-1 skos:exactMatch ncbigene:4825 semapv:UnspecifiedMatching -OMIM:602565 CCL25 skos:exactMatch hgnc:CCL25 semapv:UnspecifiedMatching +OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:10624 semapv:UnspecifiedMatching +OMIM:602565 CCL25 skos:exactMatch hgnc.symbol:CCL25 semapv:UnspecifiedMatching OMIM:602565 CCL25 skos:exactMatch ncbigene:6370 semapv:UnspecifiedMatching OMIM:602566 P2RX7 skos:exactMatch UMLS:C1418215 semapv:UnspecifiedMatching -OMIM:602566 P2RX7 skos:exactMatch hgnc:P2RX7 semapv:UnspecifiedMatching +OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:8537 semapv:UnspecifiedMatching +OMIM:602566 P2RX7 skos:exactMatch hgnc.symbol:P2RX7 semapv:UnspecifiedMatching OMIM:602566 P2RX7 skos:exactMatch ncbigene:5027 semapv:UnspecifiedMatching -OMIM:602567 LIMS1 skos:exactMatch hgnc:LIMS1 semapv:UnspecifiedMatching +OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:6616 semapv:UnspecifiedMatching +OMIM:602567 LIMS1 skos:exactMatch hgnc.symbol:LIMS1 semapv:UnspecifiedMatching OMIM:602567 LIMS1 skos:exactMatch ncbigene:3987 semapv:UnspecifiedMatching -OMIM:602568 MTRR skos:exactMatch hgnc:MTRR semapv:UnspecifiedMatching +OMIM:602568 MTRR skos:exactMatch hgnc.symbol:7473 semapv:UnspecifiedMatching +OMIM:602568 MTRR skos:exactMatch hgnc.symbol:MTRR semapv:UnspecifiedMatching OMIM:602568 MTRR skos:exactMatch ncbigene:4552 semapv:UnspecifiedMatching -OMIM:602569 SNCB skos:exactMatch hgnc:SNCB semapv:UnspecifiedMatching +OMIM:602569 SNCB skos:exactMatch hgnc.symbol:11140 semapv:UnspecifiedMatching +OMIM:602569 SNCB skos:exactMatch hgnc.symbol:SNCB semapv:UnspecifiedMatching OMIM:602569 SNCB skos:exactMatch ncbigene:6620 semapv:UnspecifiedMatching -OMIM:602570 JAG2 skos:exactMatch hgnc:JAG2 semapv:UnspecifiedMatching +OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:6189 semapv:UnspecifiedMatching +OMIM:602570 JAG2 skos:exactMatch hgnc.symbol:JAG2 semapv:UnspecifiedMatching OMIM:602570 JAG2 skos:exactMatch ncbigene:3714 semapv:UnspecifiedMatching -OMIM:602571 RBM4 skos:exactMatch hgnc:RBM4 semapv:UnspecifiedMatching +OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:9901 semapv:UnspecifiedMatching +OMIM:602571 RBM4 skos:exactMatch hgnc.symbol:RBM4 semapv:UnspecifiedMatching OMIM:602571 RBM4 skos:exactMatch ncbigene:5936 semapv:UnspecifiedMatching -OMIM:602572 ANXA11 skos:exactMatch hgnc:ANXA11 semapv:UnspecifiedMatching +OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:535 semapv:UnspecifiedMatching +OMIM:602572 ANXA11 skos:exactMatch hgnc.symbol:ANXA11 semapv:UnspecifiedMatching OMIM:602572 ANXA11 skos:exactMatch ncbigene:311 semapv:UnspecifiedMatching -OMIM:602573 ANXA13 skos:exactMatch hgnc:ANXA13 semapv:UnspecifiedMatching +OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:536 semapv:UnspecifiedMatching +OMIM:602573 ANXA13 skos:exactMatch hgnc.symbol:ANXA13 semapv:UnspecifiedMatching OMIM:602573 ANXA13 skos:exactMatch ncbigene:312 semapv:UnspecifiedMatching -OMIM:602574 TECTA skos:exactMatch hgnc:TECTA semapv:UnspecifiedMatching +OMIM:602574 TECTA skos:exactMatch hgnc.symbol:11720 semapv:UnspecifiedMatching +OMIM:602574 TECTA skos:exactMatch hgnc.symbol:TECTA semapv:UnspecifiedMatching OMIM:602574 TECTA skos:exactMatch ncbigene:7007 semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch UMLS:C0027341 semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch UMLS:C0403548 semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch UMLS:C1416890 semapv:UnspecifiedMatching -OMIM:602575 LMX1B skos:exactMatch hgnc:LMX1B semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:6654 semapv:UnspecifiedMatching +OMIM:602575 LMX1B skos:exactMatch hgnc.symbol:LMX1B semapv:UnspecifiedMatching OMIM:602575 LMX1B skos:exactMatch ncbigene:4010 semapv:UnspecifiedMatching OMIM:602576 LFNG skos:exactMatch UMLS:C1416828 semapv:UnspecifiedMatching OMIM:602576 LFNG skos:exactMatch UMLS:C1853296 semapv:UnspecifiedMatching -OMIM:602576 LFNG skos:exactMatch hgnc:LFNG semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch hgnc.symbol:6560 semapv:UnspecifiedMatching +OMIM:602576 LFNG skos:exactMatch hgnc.symbol:LFNG semapv:UnspecifiedMatching OMIM:602576 LFNG skos:exactMatch ncbigene:3955 semapv:UnspecifiedMatching -OMIM:602577 MFNG skos:exactMatch hgnc:MFNG semapv:UnspecifiedMatching +OMIM:602577 MFNG skos:exactMatch hgnc.symbol:7038 semapv:UnspecifiedMatching +OMIM:602577 MFNG skos:exactMatch hgnc.symbol:MFNG semapv:UnspecifiedMatching OMIM:602577 MFNG skos:exactMatch ncbigene:4242 semapv:UnspecifiedMatching -OMIM:602578 RFNG skos:exactMatch hgnc:RFNG semapv:UnspecifiedMatching +OMIM:602578 RFNG skos:exactMatch hgnc.symbol:9974 semapv:UnspecifiedMatching +OMIM:602578 RFNG skos:exactMatch hgnc.symbol:RFNG semapv:UnspecifiedMatching OMIM:602578 RFNG skos:exactMatch ncbigene:5986 semapv:UnspecifiedMatching -OMIM:602580 GOLGA2 skos:exactMatch hgnc:GOLGA2 semapv:UnspecifiedMatching +OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:4425 semapv:UnspecifiedMatching +OMIM:602580 GOLGA2 skos:exactMatch hgnc.symbol:GOLGA2 semapv:UnspecifiedMatching OMIM:602580 GOLGA2 skos:exactMatch ncbigene:2801 semapv:UnspecifiedMatching -OMIM:602581 GOLGA3 skos:exactMatch hgnc:GOLGA3 semapv:UnspecifiedMatching +OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:4426 semapv:UnspecifiedMatching +OMIM:602581 GOLGA3 skos:exactMatch hgnc.symbol:GOLGA3 semapv:UnspecifiedMatching OMIM:602581 GOLGA3 skos:exactMatch ncbigene:2802 semapv:UnspecifiedMatching OMIM:602582 DTX1 skos:exactMatch UMLS:C1333256 semapv:UnspecifiedMatching -OMIM:602582 DTX1 skos:exactMatch hgnc:DTX1 semapv:UnspecifiedMatching +OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:3060 semapv:UnspecifiedMatching +OMIM:602582 DTX1 skos:exactMatch hgnc.symbol:DTX1 semapv:UnspecifiedMatching OMIM:602582 DTX1 skos:exactMatch ncbigene:1840 semapv:UnspecifiedMatching -OMIM:602583 GPR37 skos:exactMatch hgnc:GPR37 semapv:UnspecifiedMatching +OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:4494 semapv:UnspecifiedMatching +OMIM:602583 GPR37 skos:exactMatch hgnc.symbol:GPR37 semapv:UnspecifiedMatching OMIM:602583 GPR37 skos:exactMatch ncbigene:2861 semapv:UnspecifiedMatching -OMIM:602584 RCN2 skos:exactMatch hgnc:RCN2 semapv:UnspecifiedMatching +OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:9935 semapv:UnspecifiedMatching +OMIM:602584 RCN2 skos:exactMatch hgnc.symbol:RCN2 semapv:UnspecifiedMatching OMIM:602584 RCN2 skos:exactMatch ncbigene:5955 semapv:UnspecifiedMatching -OMIM:602587 ACOT7 skos:exactMatch hgnc:ACOT7 semapv:UnspecifiedMatching +OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:24157 semapv:UnspecifiedMatching +OMIM:602587 ACOT7 skos:exactMatch hgnc.symbol:ACOT7 semapv:UnspecifiedMatching OMIM:602587 ACOT7 skos:exactMatch ncbigene:11332 semapv:UnspecifiedMatching -OMIM:602589 FUT8 skos:exactMatch hgnc:FUT8 semapv:UnspecifiedMatching +OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:4019 semapv:UnspecifiedMatching +OMIM:602589 FUT8 skos:exactMatch hgnc.symbol:FUT8 semapv:UnspecifiedMatching OMIM:602589 FUT8 skos:exactMatch ncbigene:2530 semapv:UnspecifiedMatching -OMIM:602590 PAK1 skos:exactMatch hgnc:PAK1 semapv:UnspecifiedMatching +OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:8590 semapv:UnspecifiedMatching +OMIM:602590 PAK1 skos:exactMatch hgnc.symbol:PAK1 semapv:UnspecifiedMatching OMIM:602590 PAK1 skos:exactMatch ncbigene:5058 semapv:UnspecifiedMatching -OMIM:602591 KIF2A skos:exactMatch hgnc:KIF2A semapv:UnspecifiedMatching +OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:6318 semapv:UnspecifiedMatching +OMIM:602591 KIF2A skos:exactMatch hgnc.symbol:KIF2A semapv:UnspecifiedMatching OMIM:602591 KIF2A skos:exactMatch ncbigene:3796 semapv:UnspecifiedMatching -OMIM:602592 CD5L skos:exactMatch hgnc:CD5L semapv:UnspecifiedMatching +OMIM:602592 CD5L skos:exactMatch hgnc.symbol:1690 semapv:UnspecifiedMatching +OMIM:602592 CD5L skos:exactMatch hgnc.symbol:CD5L semapv:UnspecifiedMatching OMIM:602592 CD5L skos:exactMatch ncbigene:922 semapv:UnspecifiedMatching -OMIM:602593 CDSN skos:exactMatch hgnc:CDSN semapv:UnspecifiedMatching +OMIM:602593 CDSN skos:exactMatch hgnc.symbol:1802 semapv:UnspecifiedMatching +OMIM:602593 CDSN skos:exactMatch hgnc.symbol:CDSN semapv:UnspecifiedMatching OMIM:602593 CDSN skos:exactMatch ncbigene:1041 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch UMLS:C1420069 semapv:UnspecifiedMatching -OMIM:602595 GEMIN2 skos:exactMatch hgnc:GEMIN2 semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:10884 semapv:UnspecifiedMatching +OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:GEMIN2 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch ncbigene:8487 semapv:UnspecifiedMatching -OMIM:602597 BCL9 skos:exactMatch hgnc:BCL9 semapv:UnspecifiedMatching +OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:1008 semapv:UnspecifiedMatching +OMIM:602597 BCL9 skos:exactMatch hgnc.symbol:BCL9 semapv:UnspecifiedMatching OMIM:602597 BCL9 skos:exactMatch ncbigene:607 semapv:UnspecifiedMatching -OMIM:602598 HPGDS skos:exactMatch hgnc:HPGDS semapv:UnspecifiedMatching +OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:17890 semapv:UnspecifiedMatching +OMIM:602598 HPGDS skos:exactMatch hgnc.symbol:HPGDS semapv:UnspecifiedMatching OMIM:602598 HPGDS skos:exactMatch ncbigene:27306 semapv:UnspecifiedMatching -OMIM:602600 LRP8 skos:exactMatch hgnc:LRP8 semapv:UnspecifiedMatching +OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:6700 semapv:UnspecifiedMatching +OMIM:602600 LRP8 skos:exactMatch hgnc.symbol:LRP8 semapv:UnspecifiedMatching OMIM:602600 LRP8 skos:exactMatch ncbigene:7804 semapv:UnspecifiedMatching -OMIM:602601 OLR1 skos:exactMatch hgnc:OLR1 semapv:UnspecifiedMatching +OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:8133 semapv:UnspecifiedMatching +OMIM:602601 OLR1 skos:exactMatch hgnc.symbol:OLR1 semapv:UnspecifiedMatching OMIM:602601 OLR1 skos:exactMatch ncbigene:4973 semapv:UnspecifiedMatching -OMIM:602602 SECTM1 skos:exactMatch hgnc:SECTM1 semapv:UnspecifiedMatching +OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:10707 semapv:UnspecifiedMatching +OMIM:602602 SECTM1 skos:exactMatch hgnc.symbol:SECTM1 semapv:UnspecifiedMatching OMIM:602602 SECTM1 skos:exactMatch ncbigene:6398 semapv:UnspecifiedMatching -OMIM:602603 MAGOH skos:exactMatch hgnc:MAGOH semapv:UnspecifiedMatching +OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:6815 semapv:UnspecifiedMatching +OMIM:602603 MAGOH skos:exactMatch hgnc.symbol:MAGOH semapv:UnspecifiedMatching OMIM:602603 MAGOH skos:exactMatch ncbigene:4116 semapv:UnspecifiedMatching -OMIM:602606 CARTPT skos:exactMatch hgnc:CARTPT semapv:UnspecifiedMatching +OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:24323 semapv:UnspecifiedMatching +OMIM:602606 CARTPT skos:exactMatch hgnc.symbol:CARTPT semapv:UnspecifiedMatching OMIM:602606 CARTPT skos:exactMatch ncbigene:9607 semapv:UnspecifiedMatching -OMIM:602607 SLC22A1 skos:exactMatch hgnc:SLC22A1 semapv:UnspecifiedMatching +OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:10963 semapv:UnspecifiedMatching +OMIM:602607 SLC22A1 skos:exactMatch hgnc.symbol:SLC22A1 semapv:UnspecifiedMatching OMIM:602607 SLC22A1 skos:exactMatch ncbigene:6580 semapv:UnspecifiedMatching OMIM:602608 SLC22A2 skos:exactMatch UMLS:C1420137 semapv:UnspecifiedMatching -OMIM:602608 SLC22A2 skos:exactMatch hgnc:SLC22A2 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:10966 semapv:UnspecifiedMatching +OMIM:602608 SLC22A2 skos:exactMatch hgnc.symbol:SLC22A2 semapv:UnspecifiedMatching OMIM:602608 SLC22A2 skos:exactMatch ncbigene:6582 semapv:UnspecifiedMatching -OMIM:602609 PIK3C3 skos:exactMatch hgnc:PIK3C3 semapv:UnspecifiedMatching +OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:8974 semapv:UnspecifiedMatching +OMIM:602609 PIK3C3 skos:exactMatch hgnc.symbol:PIK3C3 semapv:UnspecifiedMatching OMIM:602609 PIK3C3 skos:exactMatch ncbigene:5289 semapv:UnspecifiedMatching -OMIM:602610 PIK3R4 skos:exactMatch hgnc:PIK3R4 semapv:UnspecifiedMatching +OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:8982 semapv:UnspecifiedMatching +OMIM:602610 PIK3R4 skos:exactMatch hgnc.symbol:PIK3R4 semapv:UnspecifiedMatching OMIM:602610 PIK3R4 skos:exactMatch ncbigene:30849 semapv:UnspecifiedMatching -OMIM:602614 MAP3K7 skos:exactMatch hgnc:MAP3K7 semapv:UnspecifiedMatching +OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:6859 semapv:UnspecifiedMatching +OMIM:602614 MAP3K7 skos:exactMatch hgnc.symbol:MAP3K7 semapv:UnspecifiedMatching OMIM:602614 MAP3K7 skos:exactMatch ncbigene:6885 semapv:UnspecifiedMatching -OMIM:602615 TAB1 skos:exactMatch hgnc:TAB1 semapv:UnspecifiedMatching +OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:18157 semapv:UnspecifiedMatching +OMIM:602615 TAB1 skos:exactMatch hgnc.symbol:TAB1 semapv:UnspecifiedMatching OMIM:602615 TAB1 skos:exactMatch ncbigene:10454 semapv:UnspecifiedMatching -OMIM:602616 MGAT2 skos:exactMatch hgnc:MGAT2 semapv:UnspecifiedMatching +OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:7045 semapv:UnspecifiedMatching +OMIM:602616 MGAT2 skos:exactMatch hgnc.symbol:MGAT2 semapv:UnspecifiedMatching OMIM:602616 MGAT2 skos:exactMatch ncbigene:4247 semapv:UnspecifiedMatching -OMIM:602617 FOXE1 skos:exactMatch hgnc:FOXE1 semapv:UnspecifiedMatching +OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:3806 semapv:UnspecifiedMatching +OMIM:602617 FOXE1 skos:exactMatch hgnc.symbol:FOXE1 semapv:UnspecifiedMatching OMIM:602617 FOXE1 skos:exactMatch ncbigene:2304 semapv:UnspecifiedMatching -OMIM:602618 CTBP1 skos:exactMatch hgnc:CTBP1 semapv:UnspecifiedMatching +OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:2494 semapv:UnspecifiedMatching +OMIM:602618 CTBP1 skos:exactMatch hgnc.symbol:CTBP1 semapv:UnspecifiedMatching OMIM:602618 CTBP1 skos:exactMatch ncbigene:1487 semapv:UnspecifiedMatching -OMIM:602619 CTBP2 skos:exactMatch hgnc:CTBP2 semapv:UnspecifiedMatching +OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:2495 semapv:UnspecifiedMatching +OMIM:602619 CTBP2 skos:exactMatch hgnc.symbol:CTBP2 semapv:UnspecifiedMatching OMIM:602619 CTBP2 skos:exactMatch ncbigene:1488 semapv:UnspecifiedMatching -OMIM:602620 LGMN skos:exactMatch hgnc:LGMN semapv:UnspecifiedMatching +OMIM:602620 LGMN skos:exactMatch hgnc.symbol:9472 semapv:UnspecifiedMatching +OMIM:602620 LGMN skos:exactMatch hgnc.symbol:LGMN semapv:UnspecifiedMatching OMIM:602620 LGMN skos:exactMatch ncbigene:5641 semapv:UnspecifiedMatching -OMIM:602621 CXADR skos:exactMatch hgnc:CXADR semapv:UnspecifiedMatching +OMIM:602621 CXADR skos:exactMatch hgnc.symbol:2559 semapv:UnspecifiedMatching +OMIM:602621 CXADR skos:exactMatch hgnc.symbol:CXADR semapv:UnspecifiedMatching OMIM:602621 CXADR skos:exactMatch ncbigene:1525 semapv:UnspecifiedMatching -OMIM:602622 DNASE1L2 skos:exactMatch hgnc:DNASE1L2 semapv:UnspecifiedMatching +OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:2958 semapv:UnspecifiedMatching +OMIM:602622 DNASE1L2 skos:exactMatch hgnc.symbol:DNASE1L2 semapv:UnspecifiedMatching OMIM:602622 DNASE1L2 skos:exactMatch ncbigene:1775 semapv:UnspecifiedMatching -OMIM:602623 FKBP5 skos:exactMatch hgnc:FKBP5 semapv:UnspecifiedMatching +OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:3721 semapv:UnspecifiedMatching +OMIM:602623 FKBP5 skos:exactMatch hgnc.symbol:FKBP5 semapv:UnspecifiedMatching OMIM:602623 FKBP5 skos:exactMatch ncbigene:2289 semapv:UnspecifiedMatching -OMIM:602625 MAGI1 skos:exactMatch hgnc:MAGI1 semapv:UnspecifiedMatching +OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:946 semapv:UnspecifiedMatching +OMIM:602625 MAGI1 skos:exactMatch hgnc.symbol:MAGI1 semapv:UnspecifiedMatching OMIM:602625 MAGI1 skos:exactMatch ncbigene:9223 semapv:UnspecifiedMatching -OMIM:602626 IL1RAP skos:exactMatch hgnc:IL1RAP semapv:UnspecifiedMatching +OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:5995 semapv:UnspecifiedMatching +OMIM:602626 IL1RAP skos:exactMatch hgnc.symbol:IL1RAP semapv:UnspecifiedMatching OMIM:602626 IL1RAP skos:exactMatch ncbigene:3556 semapv:UnspecifiedMatching -OMIM:602627 CDC6 skos:exactMatch hgnc:CDC6 semapv:UnspecifiedMatching +OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:1744 semapv:UnspecifiedMatching +OMIM:602627 CDC6 skos:exactMatch hgnc.symbol:CDC6 semapv:UnspecifiedMatching OMIM:602627 CDC6 skos:exactMatch ncbigene:990 semapv:UnspecifiedMatching -OMIM:602628 FOXN3 skos:exactMatch hgnc:FOXN3 semapv:UnspecifiedMatching +OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:1928 semapv:UnspecifiedMatching +OMIM:602628 FOXN3 skos:exactMatch hgnc.symbol:FOXN3 semapv:UnspecifiedMatching OMIM:602628 FOXN3 skos:exactMatch ncbigene:1112 semapv:UnspecifiedMatching -OMIM:602630 TGIF skos:exactMatch hgnc:TGIF1 semapv:UnspecifiedMatching +OMIM:602630 TGIF skos:exactMatch hgnc.symbol:11776 semapv:UnspecifiedMatching +OMIM:602630 TGIF skos:exactMatch hgnc.symbol:TGIF1 semapv:UnspecifiedMatching OMIM:602630 TGIF skos:exactMatch ncbigene:7050 semapv:UnspecifiedMatching -OMIM:602631 SLC22A18 skos:exactMatch hgnc:SLC22A18 semapv:UnspecifiedMatching +OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:10964 semapv:UnspecifiedMatching +OMIM:602631 SLC22A18 skos:exactMatch hgnc.symbol:SLC22A18 semapv:UnspecifiedMatching OMIM:602631 SLC22A18 skos:exactMatch ncbigene:5002 semapv:UnspecifiedMatching -OMIM:602632 PODXL skos:exactMatch hgnc:PODXL semapv:UnspecifiedMatching +OMIM:602632 PODXL skos:exactMatch hgnc.symbol:9171 semapv:UnspecifiedMatching +OMIM:602632 PODXL skos:exactMatch hgnc.symbol:PODXL semapv:UnspecifiedMatching OMIM:602632 PODXL skos:exactMatch ncbigene:5420 semapv:UnspecifiedMatching -OMIM:602633 FHL2 skos:exactMatch hgnc:FHL2 semapv:UnspecifiedMatching +OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:3703 semapv:UnspecifiedMatching +OMIM:602633 FHL2 skos:exactMatch hgnc.symbol:FHL2 semapv:UnspecifiedMatching OMIM:602633 FHL2 skos:exactMatch ncbigene:2274 semapv:UnspecifiedMatching -OMIM:602634 DNAJB9 skos:exactMatch hgnc:DNAJB9 semapv:UnspecifiedMatching +OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:6968 semapv:UnspecifiedMatching +OMIM:602634 DNAJB9 skos:exactMatch hgnc.symbol:DNAJB9 semapv:UnspecifiedMatching OMIM:602634 DNAJB9 skos:exactMatch ncbigene:4189 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C1422833 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394572 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch UMLS:C5394573 semapv:UnspecifiedMatching -OMIM:602635 DEAF1 skos:exactMatch hgnc:DEAF1 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:14677 semapv:UnspecifiedMatching +OMIM:602635 DEAF1 skos:exactMatch hgnc.symbol:DEAF1 semapv:UnspecifiedMatching OMIM:602635 DEAF1 skos:exactMatch ncbigene:10522 semapv:UnspecifiedMatching -OMIM:602636 PPP1R8 skos:exactMatch hgnc:PPP1R8 semapv:UnspecifiedMatching +OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:9296 semapv:UnspecifiedMatching +OMIM:602636 PPP1R8 skos:exactMatch hgnc.symbol:PPP1R8 semapv:UnspecifiedMatching OMIM:602636 PPP1R8 skos:exactMatch ncbigene:5511 semapv:UnspecifiedMatching -OMIM:602637 SPP2 skos:exactMatch hgnc:SPP2 semapv:UnspecifiedMatching +OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:11256 semapv:UnspecifiedMatching +OMIM:602637 SPP2 skos:exactMatch hgnc.symbol:SPP2 semapv:UnspecifiedMatching OMIM:602637 SPP2 skos:exactMatch ncbigene:6694 semapv:UnspecifiedMatching -OMIM:602638 MCM4 skos:exactMatch hgnc:MCM4 semapv:UnspecifiedMatching +OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:6947 semapv:UnspecifiedMatching +OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:MCM4 semapv:UnspecifiedMatching OMIM:602638 MCM4 skos:exactMatch ncbigene:4173 semapv:UnspecifiedMatching -OMIM:602640 NAALADL1 skos:exactMatch hgnc:NAALADL1 semapv:UnspecifiedMatching +OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:23536 semapv:UnspecifiedMatching +OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:NAALADL1 semapv:UnspecifiedMatching OMIM:602640 NAALADL1 skos:exactMatch ncbigene:10004 semapv:UnspecifiedMatching -OMIM:602641 EIF4A1 skos:exactMatch hgnc:EIF4A1 semapv:UnspecifiedMatching +OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:3282 semapv:UnspecifiedMatching +OMIM:602641 EIF4A1 skos:exactMatch hgnc.symbol:EIF4A1 semapv:UnspecifiedMatching OMIM:602641 EIF4A1 skos:exactMatch ncbigene:1973 semapv:UnspecifiedMatching -OMIM:602642 TNFSF11 skos:exactMatch hgnc:TNFSF11 semapv:UnspecifiedMatching +OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:11926 semapv:UnspecifiedMatching +OMIM:602642 TNFSF11 skos:exactMatch hgnc.symbol:TNFSF11 semapv:UnspecifiedMatching OMIM:602642 TNFSF11 skos:exactMatch ncbigene:8600 semapv:UnspecifiedMatching -OMIM:602643 TNFRSF11B skos:exactMatch hgnc:TNFRSF11B semapv:UnspecifiedMatching +OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:11909 semapv:UnspecifiedMatching +OMIM:602643 TNFRSF11B skos:exactMatch hgnc.symbol:TNFRSF11B semapv:UnspecifiedMatching OMIM:602643 TNFRSF11B skos:exactMatch ncbigene:4982 semapv:UnspecifiedMatching -OMIM:602644 TSPAN4 skos:exactMatch hgnc:TSPAN4 semapv:UnspecifiedMatching +OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:11859 semapv:UnspecifiedMatching +OMIM:602644 TSPAN4 skos:exactMatch hgnc.symbol:TSPAN4 semapv:UnspecifiedMatching OMIM:602644 TSPAN4 skos:exactMatch ncbigene:7106 semapv:UnspecifiedMatching -OMIM:602645 SEMA3C skos:exactMatch hgnc:SEMA3C semapv:UnspecifiedMatching +OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:10725 semapv:UnspecifiedMatching +OMIM:602645 SEMA3C skos:exactMatch hgnc.symbol:SEMA3C semapv:UnspecifiedMatching OMIM:602645 SEMA3C skos:exactMatch ncbigene:10512 semapv:UnspecifiedMatching -OMIM:602646 GPR35 skos:exactMatch hgnc:GPR35 semapv:UnspecifiedMatching +OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:4492 semapv:UnspecifiedMatching +OMIM:602646 GPR35 skos:exactMatch hgnc.symbol:GPR35 semapv:UnspecifiedMatching OMIM:602646 GPR35 skos:exactMatch ncbigene:2859 semapv:UnspecifiedMatching -OMIM:602647 NXF1 skos:exactMatch hgnc:NXF1 semapv:UnspecifiedMatching +OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:8071 semapv:UnspecifiedMatching +OMIM:602647 NXF1 skos:exactMatch hgnc.symbol:NXF1 semapv:UnspecifiedMatching OMIM:602647 NXF1 skos:exactMatch ncbigene:10482 semapv:UnspecifiedMatching -OMIM:602648 ACKR2 skos:exactMatch hgnc:ACKR2 semapv:UnspecifiedMatching +OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:1565 semapv:UnspecifiedMatching +OMIM:602648 ACKR2 skos:exactMatch hgnc.symbol:ACKR2 semapv:UnspecifiedMatching OMIM:602648 ACKR2 skos:exactMatch ncbigene:1238 semapv:UnspecifiedMatching -OMIM:602649 CIRBP skos:exactMatch hgnc:CIRBP semapv:UnspecifiedMatching +OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:1982 semapv:UnspecifiedMatching +OMIM:602649 CIRBP skos:exactMatch hgnc.symbol:CIRBP semapv:UnspecifiedMatching OMIM:602649 CIRBP skos:exactMatch ncbigene:1153 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C1420368 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching -OMIM:602650 SPOP skos:exactMatch hgnc:SPOP semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch hgnc.symbol:11254 semapv:UnspecifiedMatching +OMIM:602650 SPOP skos:exactMatch hgnc.symbol:SPOP semapv:UnspecifiedMatching OMIM:602650 SPOP skos:exactMatch ncbigene:8405 semapv:UnspecifiedMatching -OMIM:602651 NRD1 skos:exactMatch hgnc:NRDC semapv:UnspecifiedMatching +OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:7995 semapv:UnspecifiedMatching +OMIM:602651 NRD1 skos:exactMatch hgnc.symbol:NRDC semapv:UnspecifiedMatching OMIM:602651 NRD1 skos:exactMatch ncbigene:4898 semapv:UnspecifiedMatching -OMIM:602652 KLK6 skos:exactMatch hgnc:KLK6 semapv:UnspecifiedMatching +OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:6367 semapv:UnspecifiedMatching +OMIM:602652 KLK6 skos:exactMatch hgnc.symbol:KLK6 semapv:UnspecifiedMatching OMIM:602652 KLK6 skos:exactMatch ncbigene:5653 semapv:UnspecifiedMatching -OMIM:602653 TECTB skos:exactMatch hgnc:TECTB semapv:UnspecifiedMatching +OMIM:602653 TECTB skos:exactMatch hgnc.symbol:11721 semapv:UnspecifiedMatching +OMIM:602653 TECTB skos:exactMatch hgnc.symbol:TECTB semapv:UnspecifiedMatching OMIM:602653 TECTB skos:exactMatch ncbigene:6975 semapv:UnspecifiedMatching OMIM:602654 FARP1 skos:exactMatch UMLS:C1414533 semapv:UnspecifiedMatching -OMIM:602654 FARP1 skos:exactMatch hgnc:FARP1 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:3591 semapv:UnspecifiedMatching +OMIM:602654 FARP1 skos:exactMatch hgnc.symbol:FARP1 semapv:UnspecifiedMatching OMIM:602654 FARP1 skos:exactMatch ncbigene:10160 semapv:UnspecifiedMatching -OMIM:602655 SLC4A1AP skos:exactMatch hgnc:SLC4A1AP semapv:UnspecifiedMatching +OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:13813 semapv:UnspecifiedMatching +OMIM:602655 SLC4A1AP skos:exactMatch hgnc.symbol:SLC4A1AP semapv:UnspecifiedMatching OMIM:602655 SLC4A1AP skos:exactMatch ncbigene:22950 semapv:UnspecifiedMatching -OMIM:602656 NTHL1 skos:exactMatch hgnc:NTHL1 semapv:UnspecifiedMatching +OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:8028 semapv:UnspecifiedMatching +OMIM:602656 NTHL1 skos:exactMatch hgnc.symbol:NTHL1 semapv:UnspecifiedMatching OMIM:602656 NTHL1 skos:exactMatch ncbigene:4913 semapv:UnspecifiedMatching OMIM:602658 PDE2A skos:exactMatch UMLS:C1418417 semapv:UnspecifiedMatching OMIM:602658 PDE2A skos:exactMatch UMLS:C5436894 semapv:UnspecifiedMatching -OMIM:602658 PDE2A skos:exactMatch hgnc:PDE2A semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:8777 semapv:UnspecifiedMatching +OMIM:602658 PDE2A skos:exactMatch hgnc.symbol:PDE2A semapv:UnspecifiedMatching OMIM:602658 PDE2A skos:exactMatch ncbigene:5138 semapv:UnspecifiedMatching -OMIM:602659 MNAT1 skos:exactMatch hgnc:MNAT1 semapv:UnspecifiedMatching +OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:7181 semapv:UnspecifiedMatching +OMIM:602659 MNAT1 skos:exactMatch hgnc.symbol:MNAT1 semapv:UnspecifiedMatching OMIM:602659 MNAT1 skos:exactMatch ncbigene:4331 semapv:UnspecifiedMatching -OMIM:602660 TUBB4B skos:exactMatch hgnc:TUBB4B semapv:UnspecifiedMatching +OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:20771 semapv:UnspecifiedMatching +OMIM:602660 TUBB4B skos:exactMatch hgnc.symbol:TUBB4B semapv:UnspecifiedMatching OMIM:602660 TUBB4B skos:exactMatch ncbigene:10383 semapv:UnspecifiedMatching -OMIM:602661 TUBB3 skos:exactMatch hgnc:TUBB3 semapv:UnspecifiedMatching +OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:20772 semapv:UnspecifiedMatching +OMIM:602661 TUBB3 skos:exactMatch hgnc.symbol:TUBB3 semapv:UnspecifiedMatching OMIM:602661 TUBB3 skos:exactMatch ncbigene:10381 semapv:UnspecifiedMatching -OMIM:602662 TUBB4A skos:exactMatch hgnc:TUBB4A semapv:UnspecifiedMatching +OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:20774 semapv:UnspecifiedMatching +OMIM:602662 TUBB4A skos:exactMatch hgnc.symbol:TUBB4A semapv:UnspecifiedMatching OMIM:602662 TUBB4A skos:exactMatch ncbigene:10382 semapv:UnspecifiedMatching -OMIM:602663 PRLH skos:exactMatch hgnc:PRLH semapv:UnspecifiedMatching +OMIM:602663 PRLH skos:exactMatch hgnc.symbol:17945 semapv:UnspecifiedMatching +OMIM:602663 PRLH skos:exactMatch hgnc.symbol:PRLH semapv:UnspecifiedMatching OMIM:602663 PRLH skos:exactMatch ncbigene:51052 semapv:UnspecifiedMatching -OMIM:602664 CASP4 skos:exactMatch hgnc:CASP4 semapv:UnspecifiedMatching +OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:1505 semapv:UnspecifiedMatching +OMIM:602664 CASP4 skos:exactMatch hgnc.symbol:CASP4 semapv:UnspecifiedMatching OMIM:602664 CASP4 skos:exactMatch ncbigene:837 semapv:UnspecifiedMatching -OMIM:602665 CASP5 skos:exactMatch hgnc:CASP5 semapv:UnspecifiedMatching +OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:1506 semapv:UnspecifiedMatching +OMIM:602665 CASP5 skos:exactMatch hgnc.symbol:CASP5 semapv:UnspecifiedMatching OMIM:602665 CASP5 skos:exactMatch ncbigene:838 semapv:UnspecifiedMatching -OMIM:602666 MYO15A skos:exactMatch hgnc:MYO15A semapv:UnspecifiedMatching +OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:7594 semapv:UnspecifiedMatching +OMIM:602666 MYO15A skos:exactMatch hgnc.symbol:MYO15A semapv:UnspecifiedMatching OMIM:602666 MYO15A skos:exactMatch ncbigene:51168 semapv:UnspecifiedMatching -OMIM:602667 NBN skos:exactMatch hgnc:NBN semapv:UnspecifiedMatching +OMIM:602667 NBN skos:exactMatch hgnc.symbol:7652 semapv:UnspecifiedMatching +OMIM:602667 NBN skos:exactMatch hgnc.symbol:NBN semapv:UnspecifiedMatching OMIM:602667 NBN skos:exactMatch ncbigene:4683 semapv:UnspecifiedMatching -OMIM:602669 PITX3 skos:exactMatch hgnc:PITX3 semapv:UnspecifiedMatching +OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:9006 semapv:UnspecifiedMatching +OMIM:602669 PITX3 skos:exactMatch hgnc.symbol:PITX3 semapv:UnspecifiedMatching OMIM:602669 PITX3 skos:exactMatch ncbigene:5309 semapv:UnspecifiedMatching -OMIM:602670 POLE2 skos:exactMatch hgnc:POLE2 semapv:UnspecifiedMatching +OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:9178 semapv:UnspecifiedMatching +OMIM:602670 POLE2 skos:exactMatch hgnc.symbol:POLE2 semapv:UnspecifiedMatching OMIM:602670 POLE2 skos:exactMatch ncbigene:5427 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0268146 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch UMLS:C0342749 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch UMLS:C1414895 semapv:UnspecifiedMatching -OMIM:602671 SLC37A4 skos:exactMatch hgnc:SLC37A4 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:4061 semapv:UnspecifiedMatching +OMIM:602671 SLC37A4 skos:exactMatch hgnc.symbol:SLC37A4 semapv:UnspecifiedMatching OMIM:602671 SLC37A4 skos:exactMatch ncbigene:2542 semapv:UnspecifiedMatching -OMIM:602672 RAB13 skos:exactMatch hgnc:RAB13 semapv:UnspecifiedMatching +OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:9762 semapv:UnspecifiedMatching +OMIM:602672 RAB13 skos:exactMatch hgnc.symbol:RAB13 semapv:UnspecifiedMatching OMIM:602672 RAB13 skos:exactMatch ncbigene:5872 semapv:UnspecifiedMatching -OMIM:602673 KLK10 skos:exactMatch hgnc:KLK10 semapv:UnspecifiedMatching +OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:6358 semapv:UnspecifiedMatching +OMIM:602673 KLK10 skos:exactMatch hgnc.symbol:KLK10 semapv:UnspecifiedMatching OMIM:602673 KLK10 skos:exactMatch ncbigene:5655 semapv:UnspecifiedMatching -OMIM:602675 RNPEP skos:exactMatch hgnc:RNPEP semapv:UnspecifiedMatching +OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:10078 semapv:UnspecifiedMatching +OMIM:602675 RNPEP skos:exactMatch hgnc.symbol:RNPEP semapv:UnspecifiedMatching OMIM:602675 RNPEP skos:exactMatch ncbigene:6051 semapv:UnspecifiedMatching OMIM:602676 PDE6D skos:exactMatch UMLS:C1418428 semapv:UnspecifiedMatching OMIM:602676 PDE6D skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching -OMIM:602676 PDE6D skos:exactMatch hgnc:PDE6D semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:8788 semapv:UnspecifiedMatching +OMIM:602676 PDE6D skos:exactMatch hgnc.symbol:PDE6D semapv:UnspecifiedMatching OMIM:602676 PDE6D skos:exactMatch ncbigene:5147 semapv:UnspecifiedMatching -OMIM:602677 RNF5 skos:exactMatch hgnc:RNF5 semapv:UnspecifiedMatching +OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:10068 semapv:UnspecifiedMatching +OMIM:602677 RNF5 skos:exactMatch hgnc.symbol:RNF5 semapv:UnspecifiedMatching OMIM:602677 RNF5 skos:exactMatch ncbigene:6048 semapv:UnspecifiedMatching -OMIM:602678 MARK3 skos:exactMatch hgnc:MARK3 semapv:UnspecifiedMatching +OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:6897 semapv:UnspecifiedMatching +OMIM:602678 MARK3 skos:exactMatch hgnc.symbol:MARK3 semapv:UnspecifiedMatching OMIM:602678 MARK3 skos:exactMatch ncbigene:4140 semapv:UnspecifiedMatching OMIM:602679 PCYT2 skos:exactMatch UMLS:C1418398 semapv:UnspecifiedMatching OMIM:602679 PCYT2 skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching -OMIM:602679 PCYT2 skos:exactMatch hgnc:PCYT2 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:8756 semapv:UnspecifiedMatching +OMIM:602679 PCYT2 skos:exactMatch hgnc.symbol:PCYT2 semapv:UnspecifiedMatching OMIM:602679 PCYT2 skos:exactMatch ncbigene:5833 semapv:UnspecifiedMatching -OMIM:602680 ARHGAP5 skos:exactMatch hgnc:ARHGAP5 semapv:UnspecifiedMatching +OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:675 semapv:UnspecifiedMatching +OMIM:602680 ARHGAP5 skos:exactMatch hgnc.symbol:ARHGAP5 semapv:UnspecifiedMatching OMIM:602680 ARHGAP5 skos:exactMatch ncbigene:394 semapv:UnspecifiedMatching OMIM:602681 FOXO3A skos:exactMatch UMLS:C1333573 semapv:UnspecifiedMatching -OMIM:602681 FOXO3A skos:exactMatch hgnc:FOXO3 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:3821 semapv:UnspecifiedMatching +OMIM:602681 FOXO3A skos:exactMatch hgnc.symbol:FOXO3 semapv:UnspecifiedMatching OMIM:602681 FOXO3A skos:exactMatch ncbigene:2309 semapv:UnspecifiedMatching -OMIM:602682 ADGRB1 skos:exactMatch hgnc:ADGRB1 semapv:UnspecifiedMatching +OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:943 semapv:UnspecifiedMatching +OMIM:602682 ADGRB1 skos:exactMatch hgnc.symbol:ADGRB1 semapv:UnspecifiedMatching OMIM:602682 ADGRB1 skos:exactMatch ncbigene:575 semapv:UnspecifiedMatching -OMIM:602683 ADGRB2 skos:exactMatch hgnc:ADGRB2 semapv:UnspecifiedMatching +OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:944 semapv:UnspecifiedMatching +OMIM:602683 ADGRB2 skos:exactMatch hgnc.symbol:ADGRB2 semapv:UnspecifiedMatching OMIM:602683 ADGRB2 skos:exactMatch ncbigene:576 semapv:UnspecifiedMatching -OMIM:602684 ADGRB3 skos:exactMatch hgnc:ADGRB3 semapv:UnspecifiedMatching +OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:945 semapv:UnspecifiedMatching +OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:ADGRB3 semapv:UnspecifiedMatching OMIM:602684 ADGRB3 skos:exactMatch ncbigene:577 semapv:UnspecifiedMatching -OMIM:602686 MAD1L1 skos:exactMatch hgnc:MAD1L1 semapv:UnspecifiedMatching +OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:6762 semapv:UnspecifiedMatching +OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:MAD1L1 semapv:UnspecifiedMatching OMIM:602686 MAD1L1 skos:exactMatch ncbigene:8379 semapv:UnspecifiedMatching -OMIM:602688 HNRNPAB skos:exactMatch hgnc:HNRNPAB semapv:UnspecifiedMatching +OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:5034 semapv:UnspecifiedMatching +OMIM:602688 HNRNPAB skos:exactMatch hgnc.symbol:HNRNPAB semapv:UnspecifiedMatching OMIM:602688 HNRNPAB skos:exactMatch ncbigene:3182 semapv:UnspecifiedMatching -OMIM:602689 FSCN1 skos:exactMatch hgnc:FSCN1 semapv:UnspecifiedMatching +OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:11148 semapv:UnspecifiedMatching +OMIM:602689 FSCN1 skos:exactMatch hgnc.symbol:FSCN1 semapv:UnspecifiedMatching OMIM:602689 FSCN1 skos:exactMatch ncbigene:6624 semapv:UnspecifiedMatching -OMIM:602690 SDHD skos:exactMatch hgnc:SDHD semapv:UnspecifiedMatching +OMIM:602690 SDHD skos:exactMatch hgnc.symbol:10683 semapv:UnspecifiedMatching +OMIM:602690 SDHD skos:exactMatch hgnc.symbol:SDHD semapv:UnspecifiedMatching OMIM:602690 SDHD skos:exactMatch ncbigene:6392 semapv:UnspecifiedMatching -OMIM:602691 NCOA1 skos:exactMatch hgnc:NCOA1 semapv:UnspecifiedMatching +OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:7668 semapv:UnspecifiedMatching +OMIM:602691 NCOA1 skos:exactMatch hgnc.symbol:NCOA1 semapv:UnspecifiedMatching OMIM:602691 NCOA1 skos:exactMatch ncbigene:8648 semapv:UnspecifiedMatching -OMIM:602692 GLIPR1 skos:exactMatch hgnc:GLIPR1 semapv:UnspecifiedMatching +OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:17001 semapv:UnspecifiedMatching +OMIM:602692 GLIPR1 skos:exactMatch hgnc.symbol:GLIPR1 semapv:UnspecifiedMatching OMIM:602692 GLIPR1 skos:exactMatch ncbigene:11010 semapv:UnspecifiedMatching OMIM:602693 MCM3 skos:exactMatch UMLS:C1334490 semapv:UnspecifiedMatching -OMIM:602693 MCM3 skos:exactMatch hgnc:MCM3 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:6945 semapv:UnspecifiedMatching +OMIM:602693 MCM3 skos:exactMatch hgnc.symbol:MCM3 semapv:UnspecifiedMatching OMIM:602693 MCM3 skos:exactMatch ncbigene:4172 semapv:UnspecifiedMatching OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1417647 semapv:UnspecifiedMatching OMIM:602694 NDUFS4 skos:exactMatch UMLS:C1838979 semapv:UnspecifiedMatching -OMIM:602694 NDUFS4 skos:exactMatch hgnc:NDUFS4 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:7711 semapv:UnspecifiedMatching +OMIM:602694 NDUFS4 skos:exactMatch hgnc.symbol:NDUFS4 semapv:UnspecifiedMatching OMIM:602694 NDUFS4 skos:exactMatch ncbigene:4724 semapv:UnspecifiedMatching -OMIM:602695 TNFSF12 skos:exactMatch hgnc:TNFSF12 semapv:UnspecifiedMatching +OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:11927 semapv:UnspecifiedMatching +OMIM:602695 TNFSF12 skos:exactMatch hgnc.symbol:TNFSF12 semapv:UnspecifiedMatching OMIM:602695 TNFSF12 skos:exactMatch ncbigene:8742 semapv:UnspecifiedMatching -OMIM:602696 MCM5 skos:exactMatch hgnc:MCM5 semapv:UnspecifiedMatching +OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:6948 semapv:UnspecifiedMatching +OMIM:602696 MCM5 skos:exactMatch hgnc.symbol:MCM5 semapv:UnspecifiedMatching OMIM:602696 MCM5 skos:exactMatch ncbigene:4174 semapv:UnspecifiedMatching -OMIM:602697 P2RY11 skos:exactMatch hgnc:P2RY11 semapv:UnspecifiedMatching +OMIM:602697 P2RY11 skos:exactMatch hgnc.symbol:8540 semapv:UnspecifiedMatching +OMIM:602697 P2RY11 skos:exactMatch hgnc.symbol:P2RY11 semapv:UnspecifiedMatching OMIM:602697 P2RY11 skos:exactMatch ncbigene:5032 semapv:UnspecifiedMatching OMIM:602698 NFATC3 skos:exactMatch UMLS:C1417696 semapv:UnspecifiedMatching -OMIM:602698 NFATC3 skos:exactMatch hgnc:NFATC3 semapv:UnspecifiedMatching +OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:7777 semapv:UnspecifiedMatching +OMIM:602698 NFATC3 skos:exactMatch hgnc.symbol:NFATC3 semapv:UnspecifiedMatching OMIM:602698 NFATC3 skos:exactMatch ncbigene:4775 semapv:UnspecifiedMatching OMIM:602699 NFATC4 skos:exactMatch UMLS:C1417697 semapv:UnspecifiedMatching -OMIM:602699 NFATC4 skos:exactMatch hgnc:NFATC4 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:7778 semapv:UnspecifiedMatching +OMIM:602699 NFATC4 skos:exactMatch hgnc.symbol:NFATC4 semapv:UnspecifiedMatching OMIM:602699 NFATC4 skos:exactMatch ncbigene:4776 semapv:UnspecifiedMatching -OMIM:602700 EP300 skos:exactMatch hgnc:EP300 semapv:UnspecifiedMatching +OMIM:602700 EP300 skos:exactMatch hgnc.symbol:3373 semapv:UnspecifiedMatching +OMIM:602700 EP300 skos:exactMatch hgnc.symbol:EP300 semapv:UnspecifiedMatching OMIM:602700 EP300 skos:exactMatch ncbigene:2033 semapv:UnspecifiedMatching -OMIM:602701 SLMAP skos:exactMatch hgnc:SLMAP semapv:UnspecifiedMatching +OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:16643 semapv:UnspecifiedMatching +OMIM:602701 SLMAP skos:exactMatch hgnc.symbol:SLMAP semapv:UnspecifiedMatching OMIM:602701 SLMAP skos:exactMatch ncbigene:7871 semapv:UnspecifiedMatching -OMIM:602702 PLIN3 skos:exactMatch hgnc:PLIN3 semapv:UnspecifiedMatching +OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:16893 semapv:UnspecifiedMatching +OMIM:602702 PLIN3 skos:exactMatch hgnc.symbol:PLIN3 semapv:UnspecifiedMatching OMIM:602702 PLIN3 skos:exactMatch ncbigene:10226 semapv:UnspecifiedMatching -OMIM:602703 KATNB1 skos:exactMatch hgnc:KATNB1 semapv:UnspecifiedMatching +OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:6217 semapv:UnspecifiedMatching +OMIM:602703 KATNB1 skos:exactMatch hgnc.symbol:KATNB1 semapv:UnspecifiedMatching OMIM:602703 KATNB1 skos:exactMatch ncbigene:10300 semapv:UnspecifiedMatching OMIM:602704 MDM4 skos:exactMatch UMLS:C1417089 semapv:UnspecifiedMatching OMIM:602704 MDM4 skos:exactMatch UMLS:C5394274 semapv:UnspecifiedMatching -OMIM:602704 MDM4 skos:exactMatch hgnc:MDM4 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:6974 semapv:UnspecifiedMatching +OMIM:602704 MDM4 skos:exactMatch hgnc.symbol:MDM4 semapv:UnspecifiedMatching OMIM:602704 MDM4 skos:exactMatch ncbigene:4194 semapv:UnspecifiedMatching -OMIM:602705 SYN3 skos:exactMatch hgnc:SYN3 semapv:UnspecifiedMatching +OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:11496 semapv:UnspecifiedMatching +OMIM:602705 SYN3 skos:exactMatch hgnc.symbol:SYN3 semapv:UnspecifiedMatching OMIM:602705 SYN3 skos:exactMatch ncbigene:8224 semapv:UnspecifiedMatching -OMIM:602706 PSMC1 skos:exactMatch hgnc:PSMC1 semapv:UnspecifiedMatching +OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:9547 semapv:UnspecifiedMatching +OMIM:602706 PSMC1 skos:exactMatch hgnc.symbol:PSMC1 semapv:UnspecifiedMatching OMIM:602706 PSMC1 skos:exactMatch ncbigene:5700 semapv:UnspecifiedMatching -OMIM:602707 PSMC4 skos:exactMatch hgnc:PSMC4 semapv:UnspecifiedMatching +OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:9551 semapv:UnspecifiedMatching +OMIM:602707 PSMC4 skos:exactMatch hgnc.symbol:PSMC4 semapv:UnspecifiedMatching OMIM:602707 PSMC4 skos:exactMatch ncbigene:5704 semapv:UnspecifiedMatching -OMIM:602708 PSMC6 skos:exactMatch hgnc:PSMC6 semapv:UnspecifiedMatching +OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:9553 semapv:UnspecifiedMatching +OMIM:602708 PSMC6 skos:exactMatch hgnc.symbol:PSMC6 semapv:UnspecifiedMatching OMIM:602708 PSMC6 skos:exactMatch ncbigene:5706 semapv:UnspecifiedMatching -OMIM:602709 APBB1 skos:exactMatch hgnc:APBB1 semapv:UnspecifiedMatching +OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:581 semapv:UnspecifiedMatching +OMIM:602709 APBB1 skos:exactMatch hgnc.symbol:APBB1 semapv:UnspecifiedMatching OMIM:602709 APBB1 skos:exactMatch ncbigene:322 semapv:UnspecifiedMatching -OMIM:602710 APBB2 skos:exactMatch hgnc:APBB2 semapv:UnspecifiedMatching +OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:582 semapv:UnspecifiedMatching +OMIM:602710 APBB2 skos:exactMatch hgnc.symbol:APBB2 semapv:UnspecifiedMatching OMIM:602710 APBB2 skos:exactMatch ncbigene:323 semapv:UnspecifiedMatching -OMIM:602711 APBB3 skos:exactMatch hgnc:APBB3 semapv:UnspecifiedMatching +OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:20708 semapv:UnspecifiedMatching +OMIM:602711 APBB3 skos:exactMatch hgnc.symbol:APBB3 semapv:UnspecifiedMatching OMIM:602711 APBB3 skos:exactMatch ncbigene:10307 semapv:UnspecifiedMatching OMIM:602712 APBA2 skos:exactMatch UMLS:C1412457 semapv:UnspecifiedMatching -OMIM:602712 APBA2 skos:exactMatch hgnc:APBA2 semapv:UnspecifiedMatching +OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:579 semapv:UnspecifiedMatching +OMIM:602712 APBA2 skos:exactMatch hgnc.symbol:APBA2 semapv:UnspecifiedMatching OMIM:602712 APBA2 skos:exactMatch ncbigene:321 semapv:UnspecifiedMatching -OMIM:602713 ADAM9 skos:exactMatch hgnc:ADAM9 semapv:UnspecifiedMatching +OMIM:602713 ADAM9 skos:exactMatch hgnc.symbol:216 semapv:UnspecifiedMatching +OMIM:602713 ADAM9 skos:exactMatch hgnc.symbol:ADAM9 semapv:UnspecifiedMatching OMIM:602713 ADAM9 skos:exactMatch ncbigene:8754 semapv:UnspecifiedMatching -OMIM:602714 ADAM12 skos:exactMatch hgnc:ADAM12 semapv:UnspecifiedMatching +OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:190 semapv:UnspecifiedMatching +OMIM:602714 ADAM12 skos:exactMatch hgnc.symbol:ADAM12 semapv:UnspecifiedMatching OMIM:602714 ADAM12 skos:exactMatch ncbigene:8038 semapv:UnspecifiedMatching -OMIM:602715 LMOD1 skos:exactMatch hgnc:LMOD1 semapv:UnspecifiedMatching +OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:6647 semapv:UnspecifiedMatching +OMIM:602715 LMOD1 skos:exactMatch hgnc.symbol:LMOD1 semapv:UnspecifiedMatching OMIM:602715 LMOD1 skos:exactMatch ncbigene:25802 semapv:UnspecifiedMatching -OMIM:602716 NPHS1 skos:exactMatch hgnc:NPHS1 semapv:UnspecifiedMatching +OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:7908 semapv:UnspecifiedMatching +OMIM:602716 NPHS1 skos:exactMatch hgnc.symbol:NPHS1 semapv:UnspecifiedMatching OMIM:602716 NPHS1 skos:exactMatch ncbigene:4868 semapv:UnspecifiedMatching OMIM:602717 GRIN2D skos:exactMatch UMLS:C1415302 semapv:UnspecifiedMatching OMIM:602717 GRIN2D skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching -OMIM:602717 GRIN2D skos:exactMatch hgnc:GRIN2D semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:4588 semapv:UnspecifiedMatching +OMIM:602717 GRIN2D skos:exactMatch hgnc.symbol:GRIN2D semapv:UnspecifiedMatching OMIM:602717 GRIN2D skos:exactMatch ncbigene:2906 semapv:UnspecifiedMatching OMIM:602718 TRA2A skos:exactMatch UMLS:C1864500 semapv:UnspecifiedMatching -OMIM:602718 TRA2A skos:exactMatch hgnc:TRA2A semapv:UnspecifiedMatching +OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:16645 semapv:UnspecifiedMatching +OMIM:602718 TRA2A skos:exactMatch hgnc.symbol:TRA2A semapv:UnspecifiedMatching OMIM:602718 TRA2A skos:exactMatch ncbigene:29896 semapv:UnspecifiedMatching OMIM:602719 TRA2B skos:exactMatch UMLS:C1419990 semapv:UnspecifiedMatching -OMIM:602719 TRA2B skos:exactMatch hgnc:TRA2B semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:10781 semapv:UnspecifiedMatching +OMIM:602719 TRA2B skos:exactMatch hgnc.symbol:TRA2B semapv:UnspecifiedMatching OMIM:602719 TRA2B skos:exactMatch ncbigene:6434 semapv:UnspecifiedMatching -OMIM:602720 PON3 skos:exactMatch hgnc:PON3 semapv:UnspecifiedMatching +OMIM:602720 PON3 skos:exactMatch hgnc.symbol:9206 semapv:UnspecifiedMatching +OMIM:602720 PON3 skos:exactMatch hgnc.symbol:PON3 semapv:UnspecifiedMatching OMIM:602720 PON3 skos:exactMatch ncbigene:5446 semapv:UnspecifiedMatching -OMIM:602721 DMC1 skos:exactMatch hgnc:DMC1 semapv:UnspecifiedMatching +OMIM:602721 DMC1 skos:exactMatch hgnc.symbol:2927 semapv:UnspecifiedMatching +OMIM:602721 DMC1 skos:exactMatch hgnc.symbol:DMC1 semapv:UnspecifiedMatching OMIM:602721 DMC1 skos:exactMatch ncbigene:11144 semapv:UnspecifiedMatching +OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch Orphanet:402041 semapv:UnspecifiedMatching OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching -OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch orphanet.ordo:18 semapv:UnspecifiedMatching -OMIM:602722 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:exactMatch orphanet.ordo:402041 semapv:UnspecifiedMatching -OMIM:602724 SEPT5 skos:exactMatch hgnc:SEPTIN5 semapv:UnspecifiedMatching +OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:9164 semapv:UnspecifiedMatching +OMIM:602724 SEPT5 skos:exactMatch hgnc.symbol:SEPTIN5 semapv:UnspecifiedMatching OMIM:602724 SEPT5 skos:exactMatch ncbigene:5413 semapv:UnspecifiedMatching -OMIM:602725 IFRD2 skos:exactMatch hgnc:IFRD2 semapv:UnspecifiedMatching +OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:5457 semapv:UnspecifiedMatching +OMIM:602725 IFRD2 skos:exactMatch hgnc.symbol:IFRD2 semapv:UnspecifiedMatching OMIM:602725 IFRD2 skos:exactMatch ncbigene:7866 semapv:UnspecifiedMatching -OMIM:602726 CLCN6 skos:exactMatch hgnc:CLCN6 semapv:UnspecifiedMatching +OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:2024 semapv:UnspecifiedMatching +OMIM:602726 CLCN6 skos:exactMatch hgnc.symbol:CLCN6 semapv:UnspecifiedMatching OMIM:602726 CLCN6 skos:exactMatch ncbigene:1185 semapv:UnspecifiedMatching -OMIM:602727 CLCN7 skos:exactMatch hgnc:CLCN7 semapv:UnspecifiedMatching +OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:2025 semapv:UnspecifiedMatching +OMIM:602727 CLCN7 skos:exactMatch hgnc.symbol:CLCN7 semapv:UnspecifiedMatching OMIM:602727 CLCN7 skos:exactMatch ncbigene:1186 semapv:UnspecifiedMatching -OMIM:602728 SCARA3 skos:exactMatch hgnc:SCARA3 semapv:UnspecifiedMatching +OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:19000 semapv:UnspecifiedMatching +OMIM:602728 SCARA3 skos:exactMatch hgnc.symbol:SCARA3 semapv:UnspecifiedMatching OMIM:602728 SCARA3 skos:exactMatch ncbigene:51435 semapv:UnspecifiedMatching -OMIM:602729 GABRP skos:exactMatch hgnc:GABRP semapv:UnspecifiedMatching +OMIM:602729 GABRP skos:exactMatch hgnc.symbol:4089 semapv:UnspecifiedMatching +OMIM:602729 GABRP skos:exactMatch hgnc.symbol:GABRP semapv:UnspecifiedMatching OMIM:602729 GABRP skos:exactMatch ncbigene:2568 semapv:UnspecifiedMatching -OMIM:602730 ACVR2B skos:exactMatch hgnc:ACVR2B semapv:UnspecifiedMatching +OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:174 semapv:UnspecifiedMatching +OMIM:602730 ACVR2B skos:exactMatch hgnc.symbol:ACVR2B semapv:UnspecifiedMatching OMIM:602730 ACVR2B skos:exactMatch ncbigene:93 semapv:UnspecifiedMatching OMIM:602731 FYB1 skos:exactMatch UMLS:C1414885 semapv:UnspecifiedMatching OMIM:602731 FYB1 skos:exactMatch UMLS:C2678311 semapv:UnspecifiedMatching -OMIM:602731 FYB1 skos:exactMatch hgnc:FYB1 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:4036 semapv:UnspecifiedMatching +OMIM:602731 FYB1 skos:exactMatch hgnc.symbol:FYB1 semapv:UnspecifiedMatching OMIM:602731 FYB1 skos:exactMatch ncbigene:2533 semapv:UnspecifiedMatching -OMIM:602732 ARHGAP1 skos:exactMatch hgnc:ARHGAP1 semapv:UnspecifiedMatching +OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:673 semapv:UnspecifiedMatching +OMIM:602732 ARHGAP1 skos:exactMatch hgnc.symbol:ARHGAP1 semapv:UnspecifiedMatching OMIM:602732 ARHGAP1 skos:exactMatch ncbigene:392 semapv:UnspecifiedMatching -OMIM:602733 ALDH9A1 skos:exactMatch hgnc:ALDH9A1 semapv:UnspecifiedMatching +OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:412 semapv:UnspecifiedMatching +OMIM:602733 ALDH9A1 skos:exactMatch hgnc.symbol:ALDH9A1 semapv:UnspecifiedMatching OMIM:602733 ALDH9A1 skos:exactMatch ncbigene:223 semapv:UnspecifiedMatching OMIM:602734 PLS1 skos:exactMatch UMLS:C1418657 semapv:UnspecifiedMatching OMIM:602734 PLS1 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching -OMIM:602734 PLS1 skos:exactMatch hgnc:PLS1 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:9090 semapv:UnspecifiedMatching +OMIM:602734 PLS1 skos:exactMatch hgnc.symbol:PLS1 semapv:UnspecifiedMatching OMIM:602734 PLS1 skos:exactMatch ncbigene:5357 semapv:UnspecifiedMatching -OMIM:602735 RCN1 skos:exactMatch hgnc:RCN1 semapv:UnspecifiedMatching +OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:9934 semapv:UnspecifiedMatching +OMIM:602735 RCN1 skos:exactMatch hgnc.symbol:RCN1 semapv:UnspecifiedMatching OMIM:602735 RCN1 skos:exactMatch ncbigene:5954 semapv:UnspecifiedMatching -OMIM:602736 ATP5MC3 skos:exactMatch hgnc:ATP5MC3 semapv:UnspecifiedMatching +OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:843 semapv:UnspecifiedMatching +OMIM:602736 ATP5MC3 skos:exactMatch hgnc.symbol:ATP5MC3 semapv:UnspecifiedMatching OMIM:602736 ATP5MC3 skos:exactMatch ncbigene:518 semapv:UnspecifiedMatching OMIM:602737 CCL21 skos:exactMatch UMLS:C1332684 semapv:UnspecifiedMatching -OMIM:602737 CCL21 skos:exactMatch hgnc:CCL21 semapv:UnspecifiedMatching +OMIM:602737 CCL21 skos:exactMatch hgnc.symbol:10620 semapv:UnspecifiedMatching +OMIM:602737 CCL21 skos:exactMatch hgnc.symbol:CCL21 semapv:UnspecifiedMatching OMIM:602737 CCL21 skos:exactMatch ncbigene:6366 semapv:UnspecifiedMatching -OMIM:602738 KPNB1 skos:exactMatch hgnc:KPNB1 semapv:UnspecifiedMatching +OMIM:602738 KPNB1 skos:exactMatch hgnc.symbol:6400 semapv:UnspecifiedMatching +OMIM:602738 KPNB1 skos:exactMatch hgnc.symbol:KPNB1 semapv:UnspecifiedMatching OMIM:602738 KPNB1 skos:exactMatch ncbigene:3837 semapv:UnspecifiedMatching -OMIM:602739 PRKAA1 skos:exactMatch hgnc:PRKAA1 semapv:UnspecifiedMatching +OMIM:602739 PRKAA1 skos:exactMatch hgnc.symbol:9376 semapv:UnspecifiedMatching +OMIM:602739 PRKAA1 skos:exactMatch hgnc.symbol:PRKAA1 semapv:UnspecifiedMatching OMIM:602739 PRKAA1 skos:exactMatch ncbigene:5562 semapv:UnspecifiedMatching -OMIM:602740 PRKAB1 skos:exactMatch hgnc:PRKAB1 semapv:UnspecifiedMatching +OMIM:602740 PRKAB1 skos:exactMatch hgnc.symbol:9378 semapv:UnspecifiedMatching +OMIM:602740 PRKAB1 skos:exactMatch hgnc.symbol:PRKAB1 semapv:UnspecifiedMatching OMIM:602740 PRKAB1 skos:exactMatch ncbigene:5564 semapv:UnspecifiedMatching -OMIM:602741 PRKAB2 skos:exactMatch hgnc:PRKAB2 semapv:UnspecifiedMatching +OMIM:602741 PRKAB2 skos:exactMatch hgnc.symbol:9379 semapv:UnspecifiedMatching +OMIM:602741 PRKAB2 skos:exactMatch hgnc.symbol:PRKAB2 semapv:UnspecifiedMatching OMIM:602741 PRKAB2 skos:exactMatch ncbigene:5565 semapv:UnspecifiedMatching -OMIM:602742 PRKAG1 skos:exactMatch hgnc:PRKAG1 semapv:UnspecifiedMatching +OMIM:602742 PRKAG1 skos:exactMatch hgnc.symbol:9385 semapv:UnspecifiedMatching +OMIM:602742 PRKAG1 skos:exactMatch hgnc.symbol:PRKAG1 semapv:UnspecifiedMatching OMIM:602742 PRKAG1 skos:exactMatch ncbigene:5571 semapv:UnspecifiedMatching -OMIM:602743 PRKAG2 skos:exactMatch hgnc:PRKAG2 semapv:UnspecifiedMatching +OMIM:602743 PRKAG2 skos:exactMatch hgnc.symbol:9386 semapv:UnspecifiedMatching +OMIM:602743 PRKAG2 skos:exactMatch hgnc.symbol:PRKAG2 semapv:UnspecifiedMatching OMIM:602743 PRKAG2 skos:exactMatch ncbigene:51422 semapv:UnspecifiedMatching -OMIM:602744 GNPAT skos:exactMatch hgnc:GNPAT semapv:UnspecifiedMatching +OMIM:602744 GNPAT skos:exactMatch hgnc.symbol:4416 semapv:UnspecifiedMatching +OMIM:602744 GNPAT skos:exactMatch hgnc.symbol:GNPAT semapv:UnspecifiedMatching OMIM:602744 GNPAT skos:exactMatch ncbigene:8443 semapv:UnspecifiedMatching -OMIM:602745 PIP5K1B skos:exactMatch hgnc:PIP5K1B semapv:UnspecifiedMatching +OMIM:602745 PIP5K1B skos:exactMatch hgnc.symbol:8995 semapv:UnspecifiedMatching +OMIM:602745 PIP5K1B skos:exactMatch hgnc.symbol:PIP5K1B semapv:UnspecifiedMatching OMIM:602745 PIP5K1B skos:exactMatch ncbigene:8395 semapv:UnspecifiedMatching -OMIM:602746 TNFRSF14 skos:exactMatch hgnc:TNFRSF14 semapv:UnspecifiedMatching +OMIM:602746 TNFRSF14 skos:exactMatch hgnc.symbol:11912 semapv:UnspecifiedMatching +OMIM:602746 TNFRSF14 skos:exactMatch hgnc.symbol:TNFRSF14 semapv:UnspecifiedMatching OMIM:602746 TNFRSF14 skos:exactMatch ncbigene:8764 semapv:UnspecifiedMatching -OMIM:602747 DUSP4 skos:exactMatch hgnc:DUSP4 semapv:UnspecifiedMatching +OMIM:602747 DUSP4 skos:exactMatch hgnc.symbol:3070 semapv:UnspecifiedMatching +OMIM:602747 DUSP4 skos:exactMatch hgnc.symbol:DUSP4 semapv:UnspecifiedMatching OMIM:602747 DUSP4 skos:exactMatch ncbigene:1846 semapv:UnspecifiedMatching -OMIM:602748 DUSP6 skos:exactMatch hgnc:DUSP6 semapv:UnspecifiedMatching +OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:3072 semapv:UnspecifiedMatching +OMIM:602748 DUSP6 skos:exactMatch hgnc.symbol:DUSP6 semapv:UnspecifiedMatching OMIM:602748 DUSP6 skos:exactMatch ncbigene:1848 semapv:UnspecifiedMatching -OMIM:602749 DUSP7 skos:exactMatch hgnc:DUSP7 semapv:UnspecifiedMatching +OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:3073 semapv:UnspecifiedMatching +OMIM:602749 DUSP7 skos:exactMatch hgnc.symbol:DUSP7 semapv:UnspecifiedMatching OMIM:602749 DUSP7 skos:exactMatch ncbigene:1849 semapv:UnspecifiedMatching -OMIM:602750 DDT skos:exactMatch hgnc:DDT semapv:UnspecifiedMatching +OMIM:602750 DDT skos:exactMatch hgnc.symbol:2732 semapv:UnspecifiedMatching +OMIM:602750 DDT skos:exactMatch hgnc.symbol:DDT semapv:UnspecifiedMatching OMIM:602750 DDT skos:exactMatch ncbigene:1652 semapv:UnspecifiedMatching -OMIM:602751 BACH1 skos:exactMatch hgnc:BACH1 semapv:UnspecifiedMatching +OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:935 semapv:UnspecifiedMatching +OMIM:602751 BACH1 skos:exactMatch hgnc.symbol:BACH1 semapv:UnspecifiedMatching OMIM:602751 BACH1 skos:exactMatch ncbigene:571 semapv:UnspecifiedMatching -OMIM:602752 RGPD8 skos:exactMatch hgnc:RGPD8 semapv:UnspecifiedMatching +OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:9849 semapv:UnspecifiedMatching +OMIM:602752 RGPD8 skos:exactMatch hgnc.symbol:RGPD8 semapv:UnspecifiedMatching OMIM:602752 RGPD8 skos:exactMatch ncbigene:727851 semapv:UnspecifiedMatching -OMIM:602753 PHOX2A skos:exactMatch hgnc:PHOX2A semapv:UnspecifiedMatching +OMIM:602753 PHOX2A skos:exactMatch hgnc.symbol:691 semapv:UnspecifiedMatching +OMIM:602753 PHOX2A skos:exactMatch hgnc.symbol:PHOX2A semapv:UnspecifiedMatching OMIM:602753 PHOX2A skos:exactMatch ncbigene:401 semapv:UnspecifiedMatching -OMIM:602754 KCNN4 skos:exactMatch hgnc:KCNN4 semapv:UnspecifiedMatching +OMIM:602754 KCNN4 skos:exactMatch hgnc.symbol:6293 semapv:UnspecifiedMatching +OMIM:602754 KCNN4 skos:exactMatch hgnc.symbol:KCNN4 semapv:UnspecifiedMatching OMIM:602754 KCNN4 skos:exactMatch ncbigene:3783 semapv:UnspecifiedMatching -OMIM:602755 CCNB2 skos:exactMatch hgnc:CCNB2 semapv:UnspecifiedMatching +OMIM:602755 CCNB2 skos:exactMatch hgnc.symbol:1580 semapv:UnspecifiedMatching +OMIM:602755 CCNB2 skos:exactMatch hgnc.symbol:CCNB2 semapv:UnspecifiedMatching OMIM:602755 CCNB2 skos:exactMatch ncbigene:9133 semapv:UnspecifiedMatching -OMIM:602756 EFNA2 skos:exactMatch hgnc:EFNA2 semapv:UnspecifiedMatching +OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:3222 semapv:UnspecifiedMatching +OMIM:602756 EFNA2 skos:exactMatch hgnc.symbol:EFNA2 semapv:UnspecifiedMatching OMIM:602756 EFNA2 skos:exactMatch ncbigene:1943 semapv:UnspecifiedMatching -OMIM:602757 EPHB6 skos:exactMatch hgnc:EPHB6 semapv:UnspecifiedMatching +OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:3396 semapv:UnspecifiedMatching +OMIM:602757 EPHB6 skos:exactMatch hgnc.symbol:EPHB6 semapv:UnspecifiedMatching OMIM:602757 EPHB6 skos:exactMatch ncbigene:2051 semapv:UnspecifiedMatching OMIM:602758 PI4KB skos:exactMatch UMLS:C1335216 semapv:UnspecifiedMatching -OMIM:602758 PI4KB skos:exactMatch hgnc:PI4KB semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:8984 semapv:UnspecifiedMatching +OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:PI4KB semapv:UnspecifiedMatching OMIM:602758 PI4KB skos:exactMatch ncbigene:5298 semapv:UnspecifiedMatching -OMIM:602760 KRT32 skos:exactMatch hgnc:KRT32 semapv:UnspecifiedMatching +OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:6449 semapv:UnspecifiedMatching +OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:KRT32 semapv:UnspecifiedMatching OMIM:602760 KRT32 skos:exactMatch ncbigene:3882 semapv:UnspecifiedMatching -OMIM:602761 KRT33A skos:exactMatch hgnc:KRT33A semapv:UnspecifiedMatching +OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:6450 semapv:UnspecifiedMatching +OMIM:602761 KRT33A skos:exactMatch hgnc.symbol:KRT33A semapv:UnspecifiedMatching OMIM:602761 KRT33A skos:exactMatch ncbigene:3883 semapv:UnspecifiedMatching -OMIM:602762 KRT33B skos:exactMatch hgnc:KRT33B semapv:UnspecifiedMatching +OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:6451 semapv:UnspecifiedMatching +OMIM:602762 KRT33B skos:exactMatch hgnc.symbol:KRT33B semapv:UnspecifiedMatching OMIM:602762 KRT33B skos:exactMatch ncbigene:3884 semapv:UnspecifiedMatching -OMIM:602763 KRT34 skos:exactMatch hgnc:KRT34 semapv:UnspecifiedMatching +OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:6452 semapv:UnspecifiedMatching +OMIM:602763 KRT34 skos:exactMatch hgnc.symbol:KRT34 semapv:UnspecifiedMatching OMIM:602763 KRT34 skos:exactMatch ncbigene:3885 semapv:UnspecifiedMatching -OMIM:602764 KRT35 skos:exactMatch hgnc:KRT35 semapv:UnspecifiedMatching +OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:6453 semapv:UnspecifiedMatching +OMIM:602764 KRT35 skos:exactMatch hgnc.symbol:KRT35 semapv:UnspecifiedMatching OMIM:602764 KRT35 skos:exactMatch ncbigene:3886 semapv:UnspecifiedMatching -OMIM:602765 KRT83 skos:exactMatch hgnc:KRT83 semapv:UnspecifiedMatching +OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:6460 semapv:UnspecifiedMatching +OMIM:602765 KRT83 skos:exactMatch hgnc.symbol:KRT83 semapv:UnspecifiedMatching OMIM:602765 KRT83 skos:exactMatch ncbigene:3889 semapv:UnspecifiedMatching -OMIM:602766 KRT84 skos:exactMatch hgnc:KRT84 semapv:UnspecifiedMatching +OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:6461 semapv:UnspecifiedMatching +OMIM:602766 KRT84 skos:exactMatch hgnc.symbol:KRT84 semapv:UnspecifiedMatching OMIM:602766 KRT84 skos:exactMatch ncbigene:3890 semapv:UnspecifiedMatching -OMIM:602767 KRT85 skos:exactMatch hgnc:KRT85 semapv:UnspecifiedMatching +OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:6462 semapv:UnspecifiedMatching +OMIM:602767 KRT85 skos:exactMatch hgnc.symbol:KRT85 semapv:UnspecifiedMatching OMIM:602767 KRT85 skos:exactMatch ncbigene:3891 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch UMLS:C0265343 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch UMLS:C1414071 semapv:UnspecifiedMatching -OMIM:602768 DLL3 skos:exactMatch hgnc:DLL3 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:2909 semapv:UnspecifiedMatching +OMIM:602768 DLL3 skos:exactMatch hgnc.symbol:DLL3 semapv:UnspecifiedMatching OMIM:602768 DLL3 skos:exactMatch ncbigene:10683 semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch UMLS:C1414123 semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch UMLS:C4015936 semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching -OMIM:602769 DNMT3A skos:exactMatch hgnc:DNMT3A semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:2978 semapv:UnspecifiedMatching +OMIM:602769 DNMT3A skos:exactMatch hgnc.symbol:DNMT3A semapv:UnspecifiedMatching OMIM:602769 DNMT3A skos:exactMatch ncbigene:1788 semapv:UnspecifiedMatching -OMIM:602770 CBX2 skos:exactMatch hgnc:CBX2 semapv:UnspecifiedMatching +OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:1552 semapv:UnspecifiedMatching +OMIM:602770 CBX2 skos:exactMatch hgnc.symbol:CBX2 semapv:UnspecifiedMatching OMIM:602770 CBX2 skos:exactMatch ncbigene:84733 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:324604 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:598 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:84132 semapv:UnspecifiedMatching +OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch Orphanet:97244 semapv:UnspecifiedMatching OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch orphanet.ordo:324604 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch orphanet.ordo:598 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch orphanet.ordo:84132 semapv:UnspecifiedMatching -OMIM:602771 congenital myopathy 3 with rigid spine skos:exactMatch orphanet.ordo:97244 semapv:UnspecifiedMatching OMIM:602773 SLC49A4 skos:exactMatch UMLS:C1424449 semapv:UnspecifiedMatching -OMIM:602773 SLC49A4 skos:exactMatch hgnc:SLC49A4 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:16628 semapv:UnspecifiedMatching +OMIM:602773 SLC49A4 skos:exactMatch hgnc.symbol:SLC49A4 semapv:UnspecifiedMatching OMIM:602773 SLC49A4 skos:exactMatch ncbigene:84925 semapv:UnspecifiedMatching -OMIM:602774 RAD51C skos:exactMatch hgnc:RAD51C semapv:UnspecifiedMatching +OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:9820 semapv:UnspecifiedMatching +OMIM:602774 RAD51C skos:exactMatch hgnc.symbol:RAD51C semapv:UnspecifiedMatching OMIM:602774 RAD51C skos:exactMatch ncbigene:5889 semapv:UnspecifiedMatching OMIM:602775 SHOC2 skos:exactMatch UMLS:C1423500 semapv:UnspecifiedMatching OMIM:602775 SHOC2 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching -OMIM:602775 SHOC2 skos:exactMatch hgnc:SHOC2 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:15454 semapv:UnspecifiedMatching +OMIM:602775 SHOC2 skos:exactMatch hgnc.symbol:SHOC2 semapv:UnspecifiedMatching OMIM:602775 SHOC2 skos:exactMatch ncbigene:8036 semapv:UnspecifiedMatching -OMIM:602776 REV3L skos:exactMatch hgnc:REV3L semapv:UnspecifiedMatching +OMIM:602776 REV3L skos:exactMatch hgnc.symbol:9968 semapv:UnspecifiedMatching +OMIM:602776 REV3L skos:exactMatch hgnc.symbol:REV3L semapv:UnspecifiedMatching OMIM:602776 REV3L skos:exactMatch ncbigene:5980 semapv:UnspecifiedMatching -OMIM:602777 SNAPC4 skos:exactMatch hgnc:SNAPC4 semapv:UnspecifiedMatching +OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:11137 semapv:UnspecifiedMatching +OMIM:602777 SNAPC4 skos:exactMatch hgnc.symbol:SNAPC4 semapv:UnspecifiedMatching OMIM:602777 SNAPC4 skos:exactMatch ncbigene:6621 semapv:UnspecifiedMatching -OMIM:602778 NR6A1 skos:exactMatch hgnc:NR6A1 semapv:UnspecifiedMatching +OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:7985 semapv:UnspecifiedMatching +OMIM:602778 NR6A1 skos:exactMatch hgnc.symbol:NR6A1 semapv:UnspecifiedMatching OMIM:602778 NR6A1 skos:exactMatch ncbigene:2649 semapv:UnspecifiedMatching -OMIM:602779 F2RL3 skos:exactMatch hgnc:F2RL3 semapv:UnspecifiedMatching +OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:3540 semapv:UnspecifiedMatching +OMIM:602779 F2RL3 skos:exactMatch hgnc.symbol:F2RL3 semapv:UnspecifiedMatching OMIM:602779 F2RL3 skos:exactMatch ncbigene:9002 semapv:UnspecifiedMatching OMIM:602780 HCN1 skos:exactMatch UMLS:C1415498 semapv:UnspecifiedMatching OMIM:602780 HCN1 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching OMIM:602780 HCN1 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching -OMIM:602780 HCN1 skos:exactMatch hgnc:HCN1 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:4845 semapv:UnspecifiedMatching +OMIM:602780 HCN1 skos:exactMatch hgnc.symbol:HCN1 semapv:UnspecifiedMatching OMIM:602780 HCN1 skos:exactMatch ncbigene:348980 semapv:UnspecifiedMatching -OMIM:602781 HCN2 skos:exactMatch hgnc:HCN2 semapv:UnspecifiedMatching +OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:4846 semapv:UnspecifiedMatching +OMIM:602781 HCN2 skos:exactMatch hgnc.symbol:HCN2 semapv:UnspecifiedMatching OMIM:602781 HCN2 skos:exactMatch ncbigene:610 semapv:UnspecifiedMatching -OMIM:602783 SPG7 skos:exactMatch hgnc:SPG7 semapv:UnspecifiedMatching +OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:11237 semapv:UnspecifiedMatching +OMIM:602783 SPG7 skos:exactMatch hgnc.symbol:SPG7 semapv:UnspecifiedMatching OMIM:602783 SPG7 skos:exactMatch ncbigene:6687 semapv:UnspecifiedMatching -OMIM:602784 CORT skos:exactMatch hgnc:CORT semapv:UnspecifiedMatching +OMIM:602784 CORT skos:exactMatch hgnc.symbol:2257 semapv:UnspecifiedMatching +OMIM:602784 CORT skos:exactMatch hgnc.symbol:CORT semapv:UnspecifiedMatching OMIM:602784 CORT skos:exactMatch ncbigene:1325 semapv:UnspecifiedMatching -OMIM:602785 H1FX skos:exactMatch hgnc:H1-10 semapv:UnspecifiedMatching +OMIM:602785 H1FX skos:exactMatch hgnc.symbol:4722 semapv:UnspecifiedMatching +OMIM:602785 H1FX skos:exactMatch hgnc.symbol:H1-10 semapv:UnspecifiedMatching OMIM:602785 H1FX skos:exactMatch ncbigene:8971 semapv:UnspecifiedMatching -OMIM:602786 HIST1H2AE skos:exactMatch hgnc:H2AC8 semapv:UnspecifiedMatching +OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:4724 semapv:UnspecifiedMatching +OMIM:602786 HIST1H2AE skos:exactMatch hgnc.symbol:H2AC8 semapv:UnspecifiedMatching OMIM:602786 HIST1H2AE skos:exactMatch ncbigene:3012 semapv:UnspecifiedMatching -OMIM:602787 HIST1H2AI skos:exactMatch hgnc:H2AC13 semapv:UnspecifiedMatching +OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:4725 semapv:UnspecifiedMatching +OMIM:602787 HIST1H2AI skos:exactMatch hgnc.symbol:H2AC13 semapv:UnspecifiedMatching OMIM:602787 HIST1H2AI skos:exactMatch ncbigene:8329 semapv:UnspecifiedMatching -OMIM:602788 HIST1H2AK skos:exactMatch hgnc:H2AC15 semapv:UnspecifiedMatching +OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:4726 semapv:UnspecifiedMatching +OMIM:602788 HIST1H2AK skos:exactMatch hgnc.symbol:H2AC15 semapv:UnspecifiedMatching OMIM:602788 HIST1H2AK skos:exactMatch ncbigene:8330 semapv:UnspecifiedMatching -OMIM:602790 FHL3 skos:exactMatch hgnc:FHL3 semapv:UnspecifiedMatching +OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:3704 semapv:UnspecifiedMatching +OMIM:602790 FHL3 skos:exactMatch hgnc.symbol:FHL3 semapv:UnspecifiedMatching OMIM:602790 FHL3 skos:exactMatch ncbigene:2275 semapv:UnspecifiedMatching -OMIM:602791 HIST1H2AJ skos:exactMatch hgnc:H2AC14 semapv:UnspecifiedMatching +OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:4727 semapv:UnspecifiedMatching +OMIM:602791 HIST1H2AJ skos:exactMatch hgnc.symbol:H2AC14 semapv:UnspecifiedMatching OMIM:602791 HIST1H2AJ skos:exactMatch ncbigene:8331 semapv:UnspecifiedMatching -OMIM:602792 HIST1H2AD skos:exactMatch hgnc:H2AC7 semapv:UnspecifiedMatching +OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:4729 semapv:UnspecifiedMatching +OMIM:602792 HIST1H2AD skos:exactMatch hgnc.symbol:H2AC7 semapv:UnspecifiedMatching OMIM:602792 HIST1H2AD skos:exactMatch ncbigene:3013 semapv:UnspecifiedMatching -OMIM:602793 HIST1H2AL skos:exactMatch hgnc:H2AC16 semapv:UnspecifiedMatching +OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:4730 semapv:UnspecifiedMatching +OMIM:602793 HIST1H2AL skos:exactMatch hgnc.symbol:H2AC16 semapv:UnspecifiedMatching OMIM:602793 HIST1H2AL skos:exactMatch ncbigene:8332 semapv:UnspecifiedMatching -OMIM:602794 HIST1H2AC skos:exactMatch hgnc:H2AC6 semapv:UnspecifiedMatching +OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:4733 semapv:UnspecifiedMatching +OMIM:602794 HIST1H2AC skos:exactMatch hgnc.symbol:H2AC6 semapv:UnspecifiedMatching OMIM:602794 HIST1H2AC skos:exactMatch ncbigene:8334 semapv:UnspecifiedMatching -OMIM:602795 HIST1H2AB skos:exactMatch hgnc:H2AC4 semapv:UnspecifiedMatching +OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:4734 semapv:UnspecifiedMatching +OMIM:602795 HIST1H2AB skos:exactMatch hgnc.symbol:H2AC4 semapv:UnspecifiedMatching OMIM:602795 HIST1H2AB skos:exactMatch ncbigene:8335 semapv:UnspecifiedMatching -OMIM:602796 HIST1H2AM skos:exactMatch hgnc:H2AC17 semapv:UnspecifiedMatching +OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:4735 semapv:UnspecifiedMatching +OMIM:602796 HIST1H2AM skos:exactMatch hgnc.symbol:H2AC17 semapv:UnspecifiedMatching OMIM:602796 HIST1H2AM skos:exactMatch ncbigene:8336 semapv:UnspecifiedMatching -OMIM:602797 HIST2H2AC skos:exactMatch hgnc:H2AC20 semapv:UnspecifiedMatching +OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:4738 semapv:UnspecifiedMatching +OMIM:602797 HIST2H2AC skos:exactMatch hgnc.symbol:H2AC20 semapv:UnspecifiedMatching OMIM:602797 HIST2H2AC skos:exactMatch ncbigene:8338 semapv:UnspecifiedMatching -OMIM:602798 HIST1H2BG skos:exactMatch hgnc:H2BC8 semapv:UnspecifiedMatching +OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:4746 semapv:UnspecifiedMatching +OMIM:602798 HIST1H2BG skos:exactMatch hgnc.symbol:H2BC8 semapv:UnspecifiedMatching OMIM:602798 HIST1H2BG skos:exactMatch ncbigene:8339 semapv:UnspecifiedMatching -OMIM:602799 HIST1H2BD skos:exactMatch hgnc:H2BC5 semapv:UnspecifiedMatching +OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:4747 semapv:UnspecifiedMatching +OMIM:602799 HIST1H2BD skos:exactMatch hgnc.symbol:H2BC5 semapv:UnspecifiedMatching OMIM:602799 HIST1H2BD skos:exactMatch ncbigene:3017 semapv:UnspecifiedMatching -OMIM:602800 HIST1H2BL skos:exactMatch hgnc:H2BC13 semapv:UnspecifiedMatching +OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:4748 semapv:UnspecifiedMatching +OMIM:602800 HIST1H2BL skos:exactMatch hgnc.symbol:H2BC13 semapv:UnspecifiedMatching OMIM:602800 HIST1H2BL skos:exactMatch ncbigene:8340 semapv:UnspecifiedMatching -OMIM:602801 HIST1H2BN skos:exactMatch hgnc:H2BC15 semapv:UnspecifiedMatching +OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:4749 semapv:UnspecifiedMatching +OMIM:602801 HIST1H2BN skos:exactMatch hgnc.symbol:H2BC15 semapv:UnspecifiedMatching OMIM:602801 HIST1H2BN skos:exactMatch ncbigene:8341 semapv:UnspecifiedMatching -OMIM:602802 HIST1H2BM skos:exactMatch hgnc:H2BC14 semapv:UnspecifiedMatching +OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:4750 semapv:UnspecifiedMatching +OMIM:602802 HIST1H2BM skos:exactMatch hgnc.symbol:H2BC14 semapv:UnspecifiedMatching OMIM:602802 HIST1H2BM skos:exactMatch ncbigene:8342 semapv:UnspecifiedMatching -OMIM:602803 HIST1H2BB skos:exactMatch hgnc:H2BC3 semapv:UnspecifiedMatching +OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:4751 semapv:UnspecifiedMatching +OMIM:602803 HIST1H2BB skos:exactMatch hgnc.symbol:H2BC3 semapv:UnspecifiedMatching OMIM:602803 HIST1H2BB skos:exactMatch ncbigene:3018 semapv:UnspecifiedMatching -OMIM:602804 HIST1H2BF skos:exactMatch hgnc:H2BC7 semapv:UnspecifiedMatching +OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:4752 semapv:UnspecifiedMatching +OMIM:602804 HIST1H2BF skos:exactMatch hgnc.symbol:H2BC7 semapv:UnspecifiedMatching OMIM:602804 HIST1H2BF skos:exactMatch ncbigene:8343 semapv:UnspecifiedMatching -OMIM:602805 HIST1H2BE skos:exactMatch hgnc:H2BC6 semapv:UnspecifiedMatching +OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:4753 semapv:UnspecifiedMatching +OMIM:602805 HIST1H2BE skos:exactMatch hgnc.symbol:H2BC6 semapv:UnspecifiedMatching OMIM:602805 HIST1H2BE skos:exactMatch ncbigene:8344 semapv:UnspecifiedMatching -OMIM:602806 HIST1H2BH skos:exactMatch hgnc:H2BC9 semapv:UnspecifiedMatching +OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:4755 semapv:UnspecifiedMatching +OMIM:602806 HIST1H2BH skos:exactMatch hgnc.symbol:H2BC9 semapv:UnspecifiedMatching OMIM:602806 HIST1H2BH skos:exactMatch ncbigene:8345 semapv:UnspecifiedMatching -OMIM:602807 HIST1H2BI skos:exactMatch hgnc:H2BC10 semapv:UnspecifiedMatching +OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:4756 semapv:UnspecifiedMatching +OMIM:602807 HIST1H2BI skos:exactMatch hgnc.symbol:H2BC10 semapv:UnspecifiedMatching OMIM:602807 HIST1H2BI skos:exactMatch ncbigene:8346 semapv:UnspecifiedMatching -OMIM:602808 HIST1H2BO skos:exactMatch hgnc:H2BC17 semapv:UnspecifiedMatching +OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:4758 semapv:UnspecifiedMatching +OMIM:602808 HIST1H2BO skos:exactMatch hgnc.symbol:H2BC17 semapv:UnspecifiedMatching OMIM:602808 HIST1H2BO skos:exactMatch ncbigene:8348 semapv:UnspecifiedMatching -OMIM:602809 KIF5B skos:exactMatch hgnc:KIF5B semapv:UnspecifiedMatching +OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:6324 semapv:UnspecifiedMatching +OMIM:602809 KIF5B skos:exactMatch hgnc.symbol:KIF5B semapv:UnspecifiedMatching OMIM:602809 KIF5B skos:exactMatch ncbigene:3799 semapv:UnspecifiedMatching -OMIM:602810 HIST1H3A skos:exactMatch hgnc:H3C1 semapv:UnspecifiedMatching +OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:4766 semapv:UnspecifiedMatching +OMIM:602810 HIST1H3A skos:exactMatch hgnc.symbol:H3C1 semapv:UnspecifiedMatching OMIM:602810 HIST1H3A skos:exactMatch ncbigene:8350 semapv:UnspecifiedMatching -OMIM:602811 HIST1H3D skos:exactMatch hgnc:H3C4 semapv:UnspecifiedMatching +OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:4767 semapv:UnspecifiedMatching +OMIM:602811 HIST1H3D skos:exactMatch hgnc.symbol:H3C4 semapv:UnspecifiedMatching OMIM:602811 HIST1H3D skos:exactMatch ncbigene:8351 semapv:UnspecifiedMatching -OMIM:602812 HIST1H3C skos:exactMatch hgnc:H3C3 semapv:UnspecifiedMatching +OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:4768 semapv:UnspecifiedMatching +OMIM:602812 HIST1H3C skos:exactMatch hgnc.symbol:H3C3 semapv:UnspecifiedMatching OMIM:602812 HIST1H3C skos:exactMatch ncbigene:8352 semapv:UnspecifiedMatching -OMIM:602813 HIST1H3E skos:exactMatch hgnc:H3C6 semapv:UnspecifiedMatching +OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:4769 semapv:UnspecifiedMatching +OMIM:602813 HIST1H3E skos:exactMatch hgnc.symbol:H3C6 semapv:UnspecifiedMatching OMIM:602813 HIST1H3E skos:exactMatch ncbigene:8353 semapv:UnspecifiedMatching -OMIM:602814 HIST1H3I skos:exactMatch hgnc:H3C11 semapv:UnspecifiedMatching +OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:4771 semapv:UnspecifiedMatching +OMIM:602814 HIST1H3I skos:exactMatch hgnc.symbol:H3C11 semapv:UnspecifiedMatching OMIM:602814 HIST1H3I skos:exactMatch ncbigene:8354 semapv:UnspecifiedMatching -OMIM:602815 HIST1H3G skos:exactMatch hgnc:H3C8 semapv:UnspecifiedMatching +OMIM:602815 HIST1H3G skos:exactMatch hgnc.symbol:4772 semapv:UnspecifiedMatching +OMIM:602815 HIST1H3G skos:exactMatch hgnc.symbol:H3C8 semapv:UnspecifiedMatching OMIM:602815 HIST1H3G skos:exactMatch ncbigene:8355 semapv:UnspecifiedMatching -OMIM:602816 HIST1H3F skos:exactMatch hgnc:H3C7 semapv:UnspecifiedMatching +OMIM:602816 HIST1H3F skos:exactMatch hgnc.symbol:4773 semapv:UnspecifiedMatching +OMIM:602816 HIST1H3F skos:exactMatch hgnc.symbol:H3C7 semapv:UnspecifiedMatching OMIM:602816 HIST1H3F skos:exactMatch ncbigene:8968 semapv:UnspecifiedMatching -OMIM:602817 HIST1H3J skos:exactMatch hgnc:H3C12 semapv:UnspecifiedMatching +OMIM:602817 HIST1H3J skos:exactMatch hgnc.symbol:4774 semapv:UnspecifiedMatching +OMIM:602817 HIST1H3J skos:exactMatch hgnc.symbol:H3C12 semapv:UnspecifiedMatching OMIM:602817 HIST1H3J skos:exactMatch ncbigene:8356 semapv:UnspecifiedMatching -OMIM:602818 HIST1H3H skos:exactMatch hgnc:H3C10 semapv:UnspecifiedMatching +OMIM:602818 HIST1H3H skos:exactMatch hgnc.symbol:4775 semapv:UnspecifiedMatching +OMIM:602818 HIST1H3H skos:exactMatch hgnc.symbol:H3C10 semapv:UnspecifiedMatching OMIM:602818 HIST1H3H skos:exactMatch ncbigene:8357 semapv:UnspecifiedMatching -OMIM:602819 HIST1H3B skos:exactMatch hgnc:H3C2 semapv:UnspecifiedMatching +OMIM:602819 HIST1H3B skos:exactMatch hgnc.symbol:4776 semapv:UnspecifiedMatching +OMIM:602819 HIST1H3B skos:exactMatch hgnc.symbol:H3C2 semapv:UnspecifiedMatching OMIM:602819 HIST1H3B skos:exactMatch ncbigene:8358 semapv:UnspecifiedMatching -OMIM:602820 HIST3H3 skos:exactMatch hgnc:H3-4 semapv:UnspecifiedMatching +OMIM:602820 HIST3H3 skos:exactMatch hgnc.symbol:4778 semapv:UnspecifiedMatching +OMIM:602820 HIST3H3 skos:exactMatch hgnc.symbol:H3-4 semapv:UnspecifiedMatching OMIM:602820 HIST3H3 skos:exactMatch ncbigene:8290 semapv:UnspecifiedMatching -OMIM:602821 KIF5A skos:exactMatch hgnc:KIF5A semapv:UnspecifiedMatching +OMIM:602821 KIF5A skos:exactMatch hgnc.symbol:6323 semapv:UnspecifiedMatching +OMIM:602821 KIF5A skos:exactMatch hgnc.symbol:KIF5A semapv:UnspecifiedMatching OMIM:602821 KIF5A skos:exactMatch ncbigene:3798 semapv:UnspecifiedMatching -OMIM:602822 H4C1 skos:exactMatch hgnc:H4C1 semapv:UnspecifiedMatching +OMIM:602822 H4C1 skos:exactMatch hgnc.symbol:4781 semapv:UnspecifiedMatching +OMIM:602822 H4C1 skos:exactMatch hgnc.symbol:H4C1 semapv:UnspecifiedMatching OMIM:602822 H4C1 skos:exactMatch ncbigene:8359 semapv:UnspecifiedMatching -OMIM:602823 H4C4 skos:exactMatch hgnc:H4C4 semapv:UnspecifiedMatching +OMIM:602823 H4C4 skos:exactMatch hgnc.symbol:4782 semapv:UnspecifiedMatching +OMIM:602823 H4C4 skos:exactMatch hgnc.symbol:H4C4 semapv:UnspecifiedMatching OMIM:602823 H4C4 skos:exactMatch ncbigene:8360 semapv:UnspecifiedMatching -OMIM:602824 H4C6 skos:exactMatch hgnc:H4C6 semapv:UnspecifiedMatching +OMIM:602824 H4C6 skos:exactMatch hgnc.symbol:4783 semapv:UnspecifiedMatching +OMIM:602824 H4C6 skos:exactMatch hgnc.symbol:H4C6 semapv:UnspecifiedMatching OMIM:602824 H4C6 skos:exactMatch ncbigene:8361 semapv:UnspecifiedMatching -OMIM:602825 H4C12 skos:exactMatch hgnc:H4C12 semapv:UnspecifiedMatching +OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:4784 semapv:UnspecifiedMatching +OMIM:602825 H4C12 skos:exactMatch hgnc.symbol:H4C12 semapv:UnspecifiedMatching OMIM:602825 H4C12 skos:exactMatch ncbigene:8362 semapv:UnspecifiedMatching -OMIM:602826 H4C11 skos:exactMatch hgnc:H4C11 semapv:UnspecifiedMatching +OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:4785 semapv:UnspecifiedMatching +OMIM:602826 H4C11 skos:exactMatch hgnc.symbol:H4C11 semapv:UnspecifiedMatching OMIM:602826 H4C11 skos:exactMatch ncbigene:8363 semapv:UnspecifiedMatching -OMIM:602827 H4C3 skos:exactMatch hgnc:H4C3 semapv:UnspecifiedMatching +OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:4787 semapv:UnspecifiedMatching +OMIM:602827 H4C3 skos:exactMatch hgnc.symbol:H4C3 semapv:UnspecifiedMatching OMIM:602827 H4C3 skos:exactMatch ncbigene:8364 semapv:UnspecifiedMatching -OMIM:602828 H4C8 skos:exactMatch hgnc:H4C8 semapv:UnspecifiedMatching +OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:4788 semapv:UnspecifiedMatching +OMIM:602828 H4C8 skos:exactMatch hgnc.symbol:H4C8 semapv:UnspecifiedMatching OMIM:602828 H4C8 skos:exactMatch ncbigene:8365 semapv:UnspecifiedMatching -OMIM:602829 H4C2 skos:exactMatch hgnc:H4C2 semapv:UnspecifiedMatching +OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:4789 semapv:UnspecifiedMatching +OMIM:602829 H4C2 skos:exactMatch hgnc.symbol:H4C2 semapv:UnspecifiedMatching OMIM:602829 H4C2 skos:exactMatch ncbigene:8366 semapv:UnspecifiedMatching -OMIM:602830 H4C5 skos:exactMatch hgnc:H4C5 semapv:UnspecifiedMatching +OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:4790 semapv:UnspecifiedMatching +OMIM:602830 H4C5 skos:exactMatch hgnc.symbol:H4C5 semapv:UnspecifiedMatching OMIM:602830 H4C5 skos:exactMatch ncbigene:8367 semapv:UnspecifiedMatching -OMIM:602831 H4C13 skos:exactMatch hgnc:H4C13 semapv:UnspecifiedMatching +OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:4791 semapv:UnspecifiedMatching +OMIM:602831 H4C13 skos:exactMatch hgnc.symbol:H4C13 semapv:UnspecifiedMatching OMIM:602831 H4C13 skos:exactMatch ncbigene:8368 semapv:UnspecifiedMatching -OMIM:602832 H4C7 skos:exactMatch hgnc:H4C7 semapv:UnspecifiedMatching +OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:4792 semapv:UnspecifiedMatching +OMIM:602832 H4C7 skos:exactMatch hgnc.symbol:H4C7 semapv:UnspecifiedMatching OMIM:602832 H4C7 skos:exactMatch ncbigene:8369 semapv:UnspecifiedMatching -OMIM:602833 H4C9 skos:exactMatch hgnc:H4C9 semapv:UnspecifiedMatching +OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:4793 semapv:UnspecifiedMatching +OMIM:602833 H4C9 skos:exactMatch hgnc.symbol:H4C9 semapv:UnspecifiedMatching OMIM:602833 H4C9 skos:exactMatch ncbigene:8294 semapv:UnspecifiedMatching -OMIM:602835 GAS2 skos:exactMatch hgnc:GAS2 semapv:UnspecifiedMatching +OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:4167 semapv:UnspecifiedMatching +OMIM:602835 GAS2 skos:exactMatch hgnc.symbol:GAS2 semapv:UnspecifiedMatching OMIM:602835 GAS2 skos:exactMatch ncbigene:2620 semapv:UnspecifiedMatching -OMIM:602836 P2RX5 skos:exactMatch hgnc:P2RX5 semapv:UnspecifiedMatching +OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:8536 semapv:UnspecifiedMatching +OMIM:602836 P2RX5 skos:exactMatch hgnc.symbol:P2RX5 semapv:UnspecifiedMatching OMIM:602836 P2RX5 skos:exactMatch ncbigene:5026 semapv:UnspecifiedMatching -OMIM:602837 DNAJA1 skos:exactMatch hgnc:DNAJA1 semapv:UnspecifiedMatching +OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:5229 semapv:UnspecifiedMatching +OMIM:602837 DNAJA1 skos:exactMatch hgnc.symbol:DNAJA1 semapv:UnspecifiedMatching OMIM:602837 DNAJA1 skos:exactMatch ncbigene:3301 semapv:UnspecifiedMatching -OMIM:602838 PIK3C2B skos:exactMatch hgnc:PIK3C2B semapv:UnspecifiedMatching +OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:8972 semapv:UnspecifiedMatching +OMIM:602838 PIK3C2B skos:exactMatch hgnc.symbol:PIK3C2B semapv:UnspecifiedMatching OMIM:602838 PIK3C2B skos:exactMatch ncbigene:5287 semapv:UnspecifiedMatching -OMIM:602839 PIK3CD skos:exactMatch hgnc:PIK3CD semapv:UnspecifiedMatching +OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:8977 semapv:UnspecifiedMatching +OMIM:602839 PIK3CD skos:exactMatch hgnc.symbol:PIK3CD semapv:UnspecifiedMatching OMIM:602839 PIK3CD skos:exactMatch ncbigene:5293 semapv:UnspecifiedMatching -OMIM:602840 CD70 skos:exactMatch hgnc:CD70 semapv:UnspecifiedMatching +OMIM:602840 CD70 skos:exactMatch hgnc.symbol:11937 semapv:UnspecifiedMatching +OMIM:602840 CD70 skos:exactMatch hgnc.symbol:CD70 semapv:UnspecifiedMatching OMIM:602840 CD70 skos:exactMatch ncbigene:970 semapv:UnspecifiedMatching -OMIM:602841 AOX1 skos:exactMatch hgnc:AOX1 semapv:UnspecifiedMatching +OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:553 semapv:UnspecifiedMatching +OMIM:602841 AOX1 skos:exactMatch hgnc.symbol:AOX1 semapv:UnspecifiedMatching OMIM:602841 AOX1 skos:exactMatch ncbigene:316 semapv:UnspecifiedMatching OMIM:602842 GMNN skos:exactMatch UMLS:C1333683 semapv:UnspecifiedMatching OMIM:602842 GMNN skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching -OMIM:602842 GMNN skos:exactMatch hgnc:GMNN semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch hgnc.symbol:17493 semapv:UnspecifiedMatching +OMIM:602842 GMNN skos:exactMatch hgnc.symbol:GMNN semapv:UnspecifiedMatching OMIM:602842 GMNN skos:exactMatch ncbigene:51053 semapv:UnspecifiedMatching -OMIM:602843 ARHGDIB skos:exactMatch hgnc:ARHGDIB semapv:UnspecifiedMatching +OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:679 semapv:UnspecifiedMatching +OMIM:602843 ARHGDIB skos:exactMatch hgnc.symbol:ARHGDIB semapv:UnspecifiedMatching OMIM:602843 ARHGDIB skos:exactMatch ncbigene:397 semapv:UnspecifiedMatching -OMIM:602844 ARHGDIG skos:exactMatch hgnc:ARHGDIG semapv:UnspecifiedMatching +OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:680 semapv:UnspecifiedMatching +OMIM:602844 ARHGDIG skos:exactMatch hgnc.symbol:ARHGDIG semapv:UnspecifiedMatching OMIM:602844 ARHGDIG skos:exactMatch ncbigene:398 semapv:UnspecifiedMatching -OMIM:602845 KIF3C skos:exactMatch hgnc:KIF3C semapv:UnspecifiedMatching +OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:6321 semapv:UnspecifiedMatching +OMIM:602845 KIF3C skos:exactMatch hgnc.symbol:KIF3C semapv:UnspecifiedMatching OMIM:602845 KIF3C skos:exactMatch ncbigene:3797 semapv:UnspecifiedMatching -OMIM:602846 UBE2K skos:exactMatch hgnc:UBE2K semapv:UnspecifiedMatching +OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:4914 semapv:UnspecifiedMatching +OMIM:602846 UBE2K skos:exactMatch hgnc.symbol:UBE2K semapv:UnspecifiedMatching OMIM:602846 UBE2K skos:exactMatch ncbigene:3093 semapv:UnspecifiedMatching -OMIM:602847 HIST1H2BC skos:exactMatch hgnc:H2BC4 semapv:UnspecifiedMatching +OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:4757 semapv:UnspecifiedMatching +OMIM:602847 HIST1H2BC skos:exactMatch hgnc.symbol:H2BC4 semapv:UnspecifiedMatching OMIM:602847 HIST1H2BC skos:exactMatch ncbigene:8347 semapv:UnspecifiedMatching -OMIM:602848 BRD8 skos:exactMatch hgnc:BRD8 semapv:UnspecifiedMatching +OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:19874 semapv:UnspecifiedMatching +OMIM:602848 BRD8 skos:exactMatch hgnc.symbol:BRD8 semapv:UnspecifiedMatching OMIM:602848 BRD8 skos:exactMatch ncbigene:10902 semapv:UnspecifiedMatching -OMIM:602850 RNF4 skos:exactMatch hgnc:RNF4 semapv:UnspecifiedMatching +OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:10067 semapv:UnspecifiedMatching +OMIM:602850 RNF4 skos:exactMatch hgnc.symbol:RNF4 semapv:UnspecifiedMatching OMIM:602850 RNF4 skos:exactMatch ncbigene:6047 semapv:UnspecifiedMatching -OMIM:602851 ADGRV1 skos:exactMatch hgnc:ADGRV1 semapv:UnspecifiedMatching +OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:17416 semapv:UnspecifiedMatching +OMIM:602851 ADGRV1 skos:exactMatch hgnc.symbol:ADGRV1 semapv:UnspecifiedMatching OMIM:602851 ADGRV1 skos:exactMatch ncbigene:84059 semapv:UnspecifiedMatching -OMIM:602852 NUDT2 skos:exactMatch hgnc:NUDT2 semapv:UnspecifiedMatching +OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:8049 semapv:UnspecifiedMatching +OMIM:602852 NUDT2 skos:exactMatch hgnc.symbol:NUDT2 semapv:UnspecifiedMatching OMIM:602852 NUDT2 skos:exactMatch ncbigene:318 semapv:UnspecifiedMatching -OMIM:602853 PTPRR skos:exactMatch hgnc:PTPRR semapv:UnspecifiedMatching +OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:9680 semapv:UnspecifiedMatching +OMIM:602853 PTPRR skos:exactMatch hgnc.symbol:PTPRR semapv:UnspecifiedMatching OMIM:602853 PTPRR skos:exactMatch ncbigene:5801 semapv:UnspecifiedMatching -OMIM:602854 PSMA1 skos:exactMatch hgnc:PSMA1 semapv:UnspecifiedMatching +OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:9530 semapv:UnspecifiedMatching +OMIM:602854 PSMA1 skos:exactMatch hgnc.symbol:PSMA1 semapv:UnspecifiedMatching OMIM:602854 PSMA1 skos:exactMatch ncbigene:5682 semapv:UnspecifiedMatching -OMIM:602855 PSMA6 skos:exactMatch hgnc:PSMA6 semapv:UnspecifiedMatching +OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:9535 semapv:UnspecifiedMatching +OMIM:602855 PSMA6 skos:exactMatch hgnc.symbol:PSMA6 semapv:UnspecifiedMatching OMIM:602855 PSMA6 skos:exactMatch ncbigene:5687 semapv:UnspecifiedMatching -OMIM:602856 RGS10 skos:exactMatch hgnc:RGS10 semapv:UnspecifiedMatching +OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:9992 semapv:UnspecifiedMatching +OMIM:602856 RGS10 skos:exactMatch hgnc.symbol:RGS10 semapv:UnspecifiedMatching OMIM:602856 RGS10 skos:exactMatch ncbigene:6001 semapv:UnspecifiedMatching -OMIM:602857 CHN2 skos:exactMatch hgnc:CHN2 semapv:UnspecifiedMatching +OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:1944 semapv:UnspecifiedMatching +OMIM:602857 CHN2 skos:exactMatch hgnc.symbol:CHN2 semapv:UnspecifiedMatching OMIM:602857 CHN2 skos:exactMatch ncbigene:1124 semapv:UnspecifiedMatching -OMIM:602858 DHCR7 skos:exactMatch hgnc:DHCR7 semapv:UnspecifiedMatching +OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:2860 semapv:UnspecifiedMatching +OMIM:602858 DHCR7 skos:exactMatch hgnc.symbol:DHCR7 semapv:UnspecifiedMatching OMIM:602858 DHCR7 skos:exactMatch ncbigene:1717 semapv:UnspecifiedMatching -OMIM:602859 PEX10 skos:exactMatch hgnc:PEX10 semapv:UnspecifiedMatching +OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:8851 semapv:UnspecifiedMatching +OMIM:602859 PEX10 skos:exactMatch hgnc.symbol:PEX10 semapv:UnspecifiedMatching OMIM:602859 PEX10 skos:exactMatch ncbigene:5192 semapv:UnspecifiedMatching -OMIM:602860 BUB1B skos:exactMatch hgnc:BUB1B semapv:UnspecifiedMatching +OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:1149 semapv:UnspecifiedMatching +OMIM:602860 BUB1B skos:exactMatch hgnc.symbol:BUB1B semapv:UnspecifiedMatching OMIM:602860 BUB1B skos:exactMatch ncbigene:701 semapv:UnspecifiedMatching OMIM:602861 PKP2 skos:exactMatch UMLS:C1418613 semapv:UnspecifiedMatching OMIM:602861 PKP2 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching -OMIM:602861 PKP2 skos:exactMatch hgnc:PKP2 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:9024 semapv:UnspecifiedMatching +OMIM:602861 PKP2 skos:exactMatch hgnc.symbol:PKP2 semapv:UnspecifiedMatching OMIM:602861 PKP2 skos:exactMatch ncbigene:5318 semapv:UnspecifiedMatching -OMIM:602862 UAP1 skos:exactMatch hgnc:UAP1 semapv:UnspecifiedMatching +OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:12457 semapv:UnspecifiedMatching +OMIM:602862 UAP1 skos:exactMatch hgnc.symbol:UAP1 semapv:UnspecifiedMatching OMIM:602862 UAP1 skos:exactMatch ncbigene:6675 semapv:UnspecifiedMatching -OMIM:602863 WNT9A skos:exactMatch hgnc:WNT9A semapv:UnspecifiedMatching +OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:12778 semapv:UnspecifiedMatching +OMIM:602863 WNT9A skos:exactMatch hgnc.symbol:WNT9A semapv:UnspecifiedMatching OMIM:602863 WNT9A skos:exactMatch ncbigene:7483 semapv:UnspecifiedMatching -OMIM:602864 WNT9B skos:exactMatch hgnc:WNT9B semapv:UnspecifiedMatching +OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:12779 semapv:UnspecifiedMatching +OMIM:602864 WNT9B skos:exactMatch hgnc.symbol:WNT9B semapv:UnspecifiedMatching OMIM:602864 WNT9B skos:exactMatch ncbigene:7484 semapv:UnspecifiedMatching -OMIM:602865 BRINP1 skos:exactMatch hgnc:BRINP1 semapv:UnspecifiedMatching +OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:2687 semapv:UnspecifiedMatching +OMIM:602865 BRINP1 skos:exactMatch hgnc.symbol:BRINP1 semapv:UnspecifiedMatching OMIM:602865 BRINP1 skos:exactMatch ncbigene:1620 semapv:UnspecifiedMatching -OMIM:602866 ASIC1 skos:exactMatch hgnc:ASIC1 semapv:UnspecifiedMatching +OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:100 semapv:UnspecifiedMatching +OMIM:602866 ASIC1 skos:exactMatch hgnc.symbol:ASIC1 semapv:UnspecifiedMatching OMIM:602866 ASIC1 skos:exactMatch ncbigene:41 semapv:UnspecifiedMatching -OMIM:602867 IGFBP7 skos:exactMatch hgnc:IGFBP7 semapv:UnspecifiedMatching +OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:5476 semapv:UnspecifiedMatching +OMIM:602867 IGFBP7 skos:exactMatch hgnc.symbol:IGFBP7 semapv:UnspecifiedMatching OMIM:602867 IGFBP7 skos:exactMatch ncbigene:3490 semapv:UnspecifiedMatching -OMIM:602868 CDC5L skos:exactMatch hgnc:CDC5L semapv:UnspecifiedMatching +OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:1743 semapv:UnspecifiedMatching +OMIM:602868 CDC5L skos:exactMatch hgnc.symbol:CDC5L semapv:UnspecifiedMatching OMIM:602868 CDC5L skos:exactMatch ncbigene:988 semapv:UnspecifiedMatching OMIM:602869 HNRNPU skos:exactMatch UMLS:C1415649 semapv:UnspecifiedMatching OMIM:602869 HNRNPU skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching -OMIM:602869 HNRNPU skos:exactMatch hgnc:HNRNPU semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:5048 semapv:UnspecifiedMatching +OMIM:602869 HNRNPU skos:exactMatch hgnc.symbol:HNRNPU semapv:UnspecifiedMatching OMIM:602869 HNRNPU skos:exactMatch ncbigene:3192 semapv:UnspecifiedMatching -OMIM:602870 IMPG1 skos:exactMatch hgnc:IMPG1 semapv:UnspecifiedMatching +OMIM:602870 IMPG1 skos:exactMatch hgnc.symbol:6055 semapv:UnspecifiedMatching +OMIM:602870 IMPG1 skos:exactMatch hgnc.symbol:IMPG1 semapv:UnspecifiedMatching OMIM:602870 IMPG1 skos:exactMatch ncbigene:3617 semapv:UnspecifiedMatching -OMIM:602871 PPL skos:exactMatch hgnc:PPL semapv:UnspecifiedMatching +OMIM:602871 PPL skos:exactMatch hgnc.symbol:9273 semapv:UnspecifiedMatching +OMIM:602871 PPL skos:exactMatch hgnc.symbol:PPL semapv:UnspecifiedMatching OMIM:602871 PPL skos:exactMatch ncbigene:5493 semapv:UnspecifiedMatching -OMIM:602872 CLIC1 skos:exactMatch hgnc:CLIC1 semapv:UnspecifiedMatching +OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:2062 semapv:UnspecifiedMatching +OMIM:602872 CLIC1 skos:exactMatch hgnc.symbol:CLIC1 semapv:UnspecifiedMatching OMIM:602872 CLIC1 skos:exactMatch ncbigene:1192 semapv:UnspecifiedMatching -OMIM:602873 NRAP skos:exactMatch hgnc:NRAP semapv:UnspecifiedMatching +OMIM:602873 NRAP skos:exactMatch hgnc.symbol:7988 semapv:UnspecifiedMatching +OMIM:602873 NRAP skos:exactMatch hgnc.symbol:NRAP semapv:UnspecifiedMatching OMIM:602873 NRAP skos:exactMatch ncbigene:4892 semapv:UnspecifiedMatching -OMIM:602874 UGCG skos:exactMatch hgnc:UGCG semapv:UnspecifiedMatching +OMIM:602874 UGCG skos:exactMatch hgnc.symbol:12524 semapv:UnspecifiedMatching +OMIM:602874 UGCG skos:exactMatch hgnc.symbol:UGCG semapv:UnspecifiedMatching OMIM:602874 UGCG skos:exactMatch ncbigene:7357 semapv:UnspecifiedMatching -OMIM:602876 OCLN skos:exactMatch hgnc:OCLN semapv:UnspecifiedMatching +OMIM:602876 OCLN skos:exactMatch hgnc.symbol:8104 semapv:UnspecifiedMatching +OMIM:602876 OCLN skos:exactMatch hgnc.symbol:OCLN semapv:UnspecifiedMatching OMIM:602876 OCLN skos:exactMatch ncbigene:100506658 semapv:UnspecifiedMatching -OMIM:602877 PPP1R7 skos:exactMatch hgnc:PPP1R7 semapv:UnspecifiedMatching +OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:9295 semapv:UnspecifiedMatching +OMIM:602877 PPP1R7 skos:exactMatch hgnc.symbol:PPP1R7 semapv:UnspecifiedMatching OMIM:602877 PPP1R7 skos:exactMatch ncbigene:5510 semapv:UnspecifiedMatching -OMIM:602878 SLC30A3 skos:exactMatch hgnc:SLC30A3 semapv:UnspecifiedMatching +OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:11014 semapv:UnspecifiedMatching +OMIM:602878 SLC30A3 skos:exactMatch hgnc.symbol:SLC30A3 semapv:UnspecifiedMatching OMIM:602878 SLC30A3 skos:exactMatch ncbigene:7781 semapv:UnspecifiedMatching -OMIM:602879 EPB41L1 skos:exactMatch hgnc:EPB41L1 semapv:UnspecifiedMatching +OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:3378 semapv:UnspecifiedMatching +OMIM:602879 EPB41L1 skos:exactMatch hgnc.symbol:EPB41L1 semapv:UnspecifiedMatching OMIM:602879 EPB41L1 skos:exactMatch ncbigene:2036 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching @@ -14691,243 +19980,348 @@ OMIM:602880 GDF1 skos:exactMatch UMLS:C0040761 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C1415031 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch UMLS:C3178806 semapv:UnspecifiedMatching -OMIM:602880 GDF1 skos:exactMatch hgnc:GDF1 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:4214 semapv:UnspecifiedMatching +OMIM:602880 GDF1 skos:exactMatch hgnc.symbol:GDF1 semapv:UnspecifiedMatching OMIM:602880 GDF1 skos:exactMatch ncbigene:2657 semapv:UnspecifiedMatching -OMIM:602881 PHF1 skos:exactMatch hgnc:PHF1 semapv:UnspecifiedMatching +OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:8919 semapv:UnspecifiedMatching +OMIM:602881 PHF1 skos:exactMatch hgnc.symbol:PHF1 semapv:UnspecifiedMatching OMIM:602881 PHF1 skos:exactMatch ncbigene:5252 semapv:UnspecifiedMatching -OMIM:602882 LECT2 skos:exactMatch hgnc:LECT2 semapv:UnspecifiedMatching +OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:6550 semapv:UnspecifiedMatching +OMIM:602882 LECT2 skos:exactMatch hgnc.symbol:LECT2 semapv:UnspecifiedMatching OMIM:602882 LECT2 skos:exactMatch ncbigene:3950 semapv:UnspecifiedMatching -OMIM:602883 SLCO1A2 skos:exactMatch hgnc:SLCO1A2 semapv:UnspecifiedMatching +OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:10956 semapv:UnspecifiedMatching +OMIM:602883 SLCO1A2 skos:exactMatch hgnc.symbol:SLCO1A2 semapv:UnspecifiedMatching OMIM:602883 SLCO1A2 skos:exactMatch ncbigene:6579 semapv:UnspecifiedMatching -OMIM:602884 GMDS skos:exactMatch hgnc:GMDS semapv:UnspecifiedMatching +OMIM:602884 GMDS skos:exactMatch hgnc.symbol:4369 semapv:UnspecifiedMatching +OMIM:602884 GMDS skos:exactMatch hgnc.symbol:GMDS semapv:UnspecifiedMatching OMIM:602884 GMDS skos:exactMatch ncbigene:2762 semapv:UnspecifiedMatching -OMIM:602885 MLNR skos:exactMatch hgnc:MLNR semapv:UnspecifiedMatching +OMIM:602885 MLNR skos:exactMatch hgnc.symbol:4495 semapv:UnspecifiedMatching +OMIM:602885 MLNR skos:exactMatch hgnc.symbol:MLNR semapv:UnspecifiedMatching OMIM:602885 MLNR skos:exactMatch ncbigene:2862 semapv:UnspecifiedMatching -OMIM:602886 GPR39 skos:exactMatch hgnc:GPR39 semapv:UnspecifiedMatching +OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:4496 semapv:UnspecifiedMatching +OMIM:602886 GPR39 skos:exactMatch hgnc.symbol:GPR39 semapv:UnspecifiedMatching OMIM:602886 GPR39 skos:exactMatch ncbigene:2863 semapv:UnspecifiedMatching OMIM:602887 DLG4 skos:exactMatch UMLS:C1333226 semapv:UnspecifiedMatching OMIM:602887 DLG4 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching -OMIM:602887 DLG4 skos:exactMatch hgnc:DLG4 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:2903 semapv:UnspecifiedMatching +OMIM:602887 DLG4 skos:exactMatch hgnc.symbol:DLG4 semapv:UnspecifiedMatching OMIM:602887 DLG4 skos:exactMatch ncbigene:1742 semapv:UnspecifiedMatching -OMIM:602888 BHMT skos:exactMatch hgnc:BHMT semapv:UnspecifiedMatching +OMIM:602888 BHMT skos:exactMatch hgnc.symbol:1047 semapv:UnspecifiedMatching +OMIM:602888 BHMT skos:exactMatch hgnc.symbol:BHMT semapv:UnspecifiedMatching OMIM:602888 BHMT skos:exactMatch ncbigene:635 semapv:UnspecifiedMatching -OMIM:602890 KLRB1 skos:exactMatch hgnc:KLRB1 semapv:UnspecifiedMatching +OMIM:602890 KLRB1 skos:exactMatch hgnc.symbol:6373 semapv:UnspecifiedMatching +OMIM:602890 KLRB1 skos:exactMatch hgnc.symbol:KLRB1 semapv:UnspecifiedMatching OMIM:602890 KLRB1 skos:exactMatch ncbigene:3820 semapv:UnspecifiedMatching -OMIM:602891 KLRC2 skos:exactMatch hgnc:KLRC2 semapv:UnspecifiedMatching +OMIM:602891 KLRC2 skos:exactMatch hgnc.symbol:6375 semapv:UnspecifiedMatching +OMIM:602891 KLRC2 skos:exactMatch hgnc.symbol:KLRC2 semapv:UnspecifiedMatching OMIM:602891 KLRC2 skos:exactMatch ncbigene:3822 semapv:UnspecifiedMatching -OMIM:602892 KLRC3 skos:exactMatch hgnc:KLRC3 semapv:UnspecifiedMatching +OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:6376 semapv:UnspecifiedMatching +OMIM:602892 KLRC3 skos:exactMatch hgnc.symbol:KLRC3 semapv:UnspecifiedMatching OMIM:602892 KLRC3 skos:exactMatch ncbigene:3823 semapv:UnspecifiedMatching -OMIM:602893 KLRC4 skos:exactMatch hgnc:KLRC4 semapv:UnspecifiedMatching +OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:6377 semapv:UnspecifiedMatching +OMIM:602893 KLRC4 skos:exactMatch hgnc.symbol:KLRC4 semapv:UnspecifiedMatching OMIM:602893 KLRC4 skos:exactMatch ncbigene:8302 semapv:UnspecifiedMatching -OMIM:602894 KLRD1 skos:exactMatch hgnc:KLRD1 semapv:UnspecifiedMatching +OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:6378 semapv:UnspecifiedMatching +OMIM:602894 KLRD1 skos:exactMatch hgnc.symbol:KLRD1 semapv:UnspecifiedMatching OMIM:602894 KLRD1 skos:exactMatch ncbigene:3824 semapv:UnspecifiedMatching -OMIM:602895 SAFB skos:exactMatch hgnc:SAFB semapv:UnspecifiedMatching +OMIM:602895 SAFB skos:exactMatch hgnc.symbol:10520 semapv:UnspecifiedMatching +OMIM:602895 SAFB skos:exactMatch hgnc.symbol:SAFB semapv:UnspecifiedMatching OMIM:602895 SAFB skos:exactMatch ncbigene:6294 semapv:UnspecifiedMatching -OMIM:602896 MAPK9 skos:exactMatch hgnc:MAPK9 semapv:UnspecifiedMatching +OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:6886 semapv:UnspecifiedMatching +OMIM:602896 MAPK9 skos:exactMatch hgnc.symbol:MAPK9 semapv:UnspecifiedMatching OMIM:602896 MAPK9 skos:exactMatch ncbigene:5601 semapv:UnspecifiedMatching -OMIM:602897 MAPK10 skos:exactMatch hgnc:MAPK10 semapv:UnspecifiedMatching +OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:6872 semapv:UnspecifiedMatching +OMIM:602897 MAPK10 skos:exactMatch hgnc.symbol:MAPK10 semapv:UnspecifiedMatching OMIM:602897 MAPK10 skos:exactMatch ncbigene:5602 semapv:UnspecifiedMatching -OMIM:602898 MAPK11 skos:exactMatch hgnc:MAPK11 semapv:UnspecifiedMatching +OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:6873 semapv:UnspecifiedMatching +OMIM:602898 MAPK11 skos:exactMatch hgnc.symbol:MAPK11 semapv:UnspecifiedMatching OMIM:602898 MAPK11 skos:exactMatch ncbigene:5600 semapv:UnspecifiedMatching -OMIM:602899 MAPK13 skos:exactMatch hgnc:MAPK13 semapv:UnspecifiedMatching +OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:6875 semapv:UnspecifiedMatching +OMIM:602899 MAPK13 skos:exactMatch hgnc.symbol:MAPK13 semapv:UnspecifiedMatching OMIM:602899 MAPK13 skos:exactMatch ncbigene:5603 semapv:UnspecifiedMatching -OMIM:602900 DNMT3B skos:exactMatch hgnc:DNMT3B semapv:UnspecifiedMatching +OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:2979 semapv:UnspecifiedMatching +OMIM:602900 DNMT3B skos:exactMatch hgnc.symbol:DNMT3B semapv:UnspecifiedMatching OMIM:602900 DNMT3B skos:exactMatch ncbigene:1789 semapv:UnspecifiedMatching -OMIM:602901 TNPO1 skos:exactMatch hgnc:TNPO1 semapv:UnspecifiedMatching +OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:6401 semapv:UnspecifiedMatching +OMIM:602901 TNPO1 skos:exactMatch hgnc.symbol:TNPO1 semapv:UnspecifiedMatching OMIM:602901 TNPO1 skos:exactMatch ncbigene:3842 semapv:UnspecifiedMatching -OMIM:602902 KLF9 skos:exactMatch hgnc:KLF9 semapv:UnspecifiedMatching +OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:1123 semapv:UnspecifiedMatching +OMIM:602902 KLF9 skos:exactMatch hgnc.symbol:KLF9 semapv:UnspecifiedMatching OMIM:602902 KLF9 skos:exactMatch ncbigene:687 semapv:UnspecifiedMatching -OMIM:602903 KLF5 skos:exactMatch hgnc:KLF5 semapv:UnspecifiedMatching +OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:6349 semapv:UnspecifiedMatching +OMIM:602903 KLF5 skos:exactMatch hgnc.symbol:KLF5 semapv:UnspecifiedMatching OMIM:602903 KLF5 skos:exactMatch ncbigene:688 semapv:UnspecifiedMatching -OMIM:602904 MAPK6 skos:exactMatch hgnc:MAPK6 semapv:UnspecifiedMatching +OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:6879 semapv:UnspecifiedMatching +OMIM:602904 MAPK6 skos:exactMatch hgnc.symbol:MAPK6 semapv:UnspecifiedMatching OMIM:602904 MAPK6 skos:exactMatch ncbigene:5597 semapv:UnspecifiedMatching -OMIM:602905 KCNS1 skos:exactMatch hgnc:KCNS1 semapv:UnspecifiedMatching +OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:6300 semapv:UnspecifiedMatching +OMIM:602905 KCNS1 skos:exactMatch hgnc.symbol:KCNS1 semapv:UnspecifiedMatching OMIM:602905 KCNS1 skos:exactMatch ncbigene:3787 semapv:UnspecifiedMatching -OMIM:602906 KCNS2 skos:exactMatch hgnc:KCNS2 semapv:UnspecifiedMatching +OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:6301 semapv:UnspecifiedMatching +OMIM:602906 KCNS2 skos:exactMatch hgnc.symbol:KCNS2 semapv:UnspecifiedMatching OMIM:602906 KCNS2 skos:exactMatch ncbigene:3788 semapv:UnspecifiedMatching OMIM:602907 CETN3 skos:exactMatch UMLS:C1413352 semapv:UnspecifiedMatching -OMIM:602907 CETN3 skos:exactMatch hgnc:CETN3 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:1868 semapv:UnspecifiedMatching +OMIM:602907 CETN3 skos:exactMatch hgnc.symbol:CETN3 semapv:UnspecifiedMatching OMIM:602907 CETN3 skos:exactMatch ncbigene:1070 semapv:UnspecifiedMatching -OMIM:602908 RBBP9 skos:exactMatch hgnc:RBBP9 semapv:UnspecifiedMatching +OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:9892 semapv:UnspecifiedMatching +OMIM:602908 RBBP9 skos:exactMatch hgnc.symbol:RBBP9 semapv:UnspecifiedMatching OMIM:602908 RBBP9 skos:exactMatch ncbigene:10741 semapv:UnspecifiedMatching -OMIM:602909 CLDN4 skos:exactMatch hgnc:CLDN4 semapv:UnspecifiedMatching +OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:2046 semapv:UnspecifiedMatching +OMIM:602909 CLDN4 skos:exactMatch hgnc.symbol:CLDN4 semapv:UnspecifiedMatching OMIM:602909 CLDN4 skos:exactMatch ncbigene:1364 semapv:UnspecifiedMatching -OMIM:602910 CLDN3 skos:exactMatch hgnc:CLDN3 semapv:UnspecifiedMatching +OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:2045 semapv:UnspecifiedMatching +OMIM:602910 CLDN3 skos:exactMatch hgnc.symbol:CLDN3 semapv:UnspecifiedMatching OMIM:602910 CLDN3 skos:exactMatch ncbigene:1365 semapv:UnspecifiedMatching -OMIM:602911 CACNG2 skos:exactMatch hgnc:CACNG2 semapv:UnspecifiedMatching +OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:1406 semapv:UnspecifiedMatching +OMIM:602911 CACNG2 skos:exactMatch hgnc.symbol:CACNG2 semapv:UnspecifiedMatching OMIM:602911 CACNG2 skos:exactMatch ncbigene:10369 semapv:UnspecifiedMatching OMIM:602912 EIF6 skos:exactMatch UMLS:C1416500 semapv:UnspecifiedMatching -OMIM:602912 EIF6 skos:exactMatch hgnc:EIF6 semapv:UnspecifiedMatching +OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:6159 semapv:UnspecifiedMatching +OMIM:602912 EIF6 skos:exactMatch hgnc.symbol:EIF6 semapv:UnspecifiedMatching OMIM:602912 EIF6 skos:exactMatch ncbigene:3692 semapv:UnspecifiedMatching -OMIM:602913 PLK3 skos:exactMatch hgnc:PLK3 semapv:UnspecifiedMatching +OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:2154 semapv:UnspecifiedMatching +OMIM:602913 PLK3 skos:exactMatch hgnc.symbol:PLK3 semapv:UnspecifiedMatching OMIM:602913 PLK3 skos:exactMatch ncbigene:1263 semapv:UnspecifiedMatching -OMIM:602914 AQP9 skos:exactMatch hgnc:AQP9 semapv:UnspecifiedMatching +OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:643 semapv:UnspecifiedMatching +OMIM:602914 AQP9 skos:exactMatch hgnc.symbol:AQP9 semapv:UnspecifiedMatching OMIM:602914 AQP9 skos:exactMatch ncbigene:366 semapv:UnspecifiedMatching -OMIM:602915 GET1 skos:exactMatch hgnc:GET1 semapv:UnspecifiedMatching +OMIM:602915 GET1 skos:exactMatch hgnc.symbol:12790 semapv:UnspecifiedMatching +OMIM:602915 GET1 skos:exactMatch hgnc.symbol:GET1 semapv:UnspecifiedMatching OMIM:602915 GET1 skos:exactMatch ncbigene:7485 semapv:UnspecifiedMatching -OMIM:602916 UBE2E1 skos:exactMatch hgnc:UBE2E1 semapv:UnspecifiedMatching +OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:12477 semapv:UnspecifiedMatching +OMIM:602916 UBE2E1 skos:exactMatch hgnc.symbol:UBE2E1 semapv:UnspecifiedMatching OMIM:602916 UBE2E1 skos:exactMatch ncbigene:7324 semapv:UnspecifiedMatching -OMIM:602917 RCAN1 skos:exactMatch hgnc:RCAN1 semapv:UnspecifiedMatching +OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:3040 semapv:UnspecifiedMatching +OMIM:602917 RCAN1 skos:exactMatch hgnc.symbol:RCAN1 semapv:UnspecifiedMatching OMIM:602917 RCAN1 skos:exactMatch ncbigene:1827 semapv:UnspecifiedMatching OMIM:602918 FARSA skos:exactMatch UMLS:C1414534 semapv:UnspecifiedMatching OMIM:602918 FARSA skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching -OMIM:602918 FARSA skos:exactMatch hgnc:FARSA semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch hgnc.symbol:3592 semapv:UnspecifiedMatching +OMIM:602918 FARSA skos:exactMatch hgnc.symbol:FARSA semapv:UnspecifiedMatching OMIM:602918 FARSA skos:exactMatch ncbigene:2193 semapv:UnspecifiedMatching -OMIM:602919 DOK1 skos:exactMatch hgnc:DOK1 semapv:UnspecifiedMatching +OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:2990 semapv:UnspecifiedMatching +OMIM:602919 DOK1 skos:exactMatch hgnc.symbol:DOK1 semapv:UnspecifiedMatching OMIM:602919 DOK1 skos:exactMatch ncbigene:1796 semapv:UnspecifiedMatching -OMIM:602920 LASP1 skos:exactMatch hgnc:LASP1 semapv:UnspecifiedMatching +OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:6513 semapv:UnspecifiedMatching +OMIM:602920 LASP1 skos:exactMatch hgnc.symbol:LASP1 semapv:UnspecifiedMatching OMIM:602920 LASP1 skos:exactMatch ncbigene:3927 semapv:UnspecifiedMatching -OMIM:602921 PSPN skos:exactMatch hgnc:PSPN semapv:UnspecifiedMatching +OMIM:602921 PSPN skos:exactMatch hgnc.symbol:9579 semapv:UnspecifiedMatching +OMIM:602921 PSPN skos:exactMatch hgnc.symbol:PSPN semapv:UnspecifiedMatching OMIM:602921 PSPN skos:exactMatch ncbigene:5623 semapv:UnspecifiedMatching -OMIM:602923 RBBP4 skos:exactMatch hgnc:RBBP4 semapv:UnspecifiedMatching +OMIM:602923 RBBP4 skos:exactMatch hgnc.symbol:9887 semapv:UnspecifiedMatching +OMIM:602923 RBBP4 skos:exactMatch hgnc.symbol:RBBP4 semapv:UnspecifiedMatching OMIM:602923 RBBP4 skos:exactMatch ncbigene:5928 semapv:UnspecifiedMatching -OMIM:602924 RND3 skos:exactMatch hgnc:RND3 semapv:UnspecifiedMatching +OMIM:602924 RND3 skos:exactMatch hgnc.symbol:671 semapv:UnspecifiedMatching +OMIM:602924 RND3 skos:exactMatch hgnc.symbol:RND3 semapv:UnspecifiedMatching OMIM:602924 RND3 skos:exactMatch ncbigene:390 semapv:UnspecifiedMatching -OMIM:602925 PIK3CB skos:exactMatch hgnc:PIK3CB semapv:UnspecifiedMatching +OMIM:602925 PIK3CB skos:exactMatch hgnc.symbol:8976 semapv:UnspecifiedMatching +OMIM:602925 PIK3CB skos:exactMatch hgnc.symbol:PIK3CB semapv:UnspecifiedMatching OMIM:602925 PIK3CB skos:exactMatch ncbigene:5291 semapv:UnspecifiedMatching OMIM:602926 STXBP1 skos:exactMatch UMLS:C1420506 semapv:UnspecifiedMatching OMIM:602926 STXBP1 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching OMIM:602926 STXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:602926 STXBP1 skos:exactMatch hgnc:STXBP1 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch hgnc.symbol:11444 semapv:UnspecifiedMatching +OMIM:602926 STXBP1 skos:exactMatch hgnc.symbol:STXBP1 semapv:UnspecifiedMatching OMIM:602926 STXBP1 skos:exactMatch ncbigene:6812 semapv:UnspecifiedMatching -OMIM:602927 GPR19 skos:exactMatch hgnc:GPR19 semapv:UnspecifiedMatching +OMIM:602927 GPR19 skos:exactMatch hgnc.symbol:4473 semapv:UnspecifiedMatching +OMIM:602927 GPR19 skos:exactMatch hgnc.symbol:GPR19 semapv:UnspecifiedMatching OMIM:602927 GPR19 skos:exactMatch ncbigene:2842 semapv:UnspecifiedMatching -OMIM:602928 TMOD2 skos:exactMatch hgnc:TMOD2 semapv:UnspecifiedMatching +OMIM:602928 TMOD2 skos:exactMatch hgnc.symbol:11872 semapv:UnspecifiedMatching +OMIM:602928 TMOD2 skos:exactMatch hgnc.symbol:TMOD2 semapv:UnspecifiedMatching OMIM:602928 TMOD2 skos:exactMatch ncbigene:29767 semapv:UnspecifiedMatching -OMIM:602929 VWA5A skos:exactMatch hgnc:VWA5A semapv:UnspecifiedMatching +OMIM:602929 VWA5A skos:exactMatch hgnc.symbol:6658 semapv:UnspecifiedMatching +OMIM:602929 VWA5A skos:exactMatch hgnc.symbol:VWA5A semapv:UnspecifiedMatching OMIM:602929 VWA5A skos:exactMatch ncbigene:4013 semapv:UnspecifiedMatching OMIM:602930 REXO4 skos:exactMatch UMLS:C1826806 semapv:UnspecifiedMatching -OMIM:602930 REXO4 skos:exactMatch hgnc:REXO4 semapv:UnspecifiedMatching +OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:12820 semapv:UnspecifiedMatching +OMIM:602930 REXO4 skos:exactMatch hgnc.symbol:REXO4 semapv:UnspecifiedMatching OMIM:602930 REXO4 skos:exactMatch ncbigene:57109 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C1334469 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C3542024 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C4479677 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch UMLS:C5241445 semapv:UnspecifiedMatching -OMIM:602931 SMAD6 skos:exactMatch hgnc:SMAD6 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:6772 semapv:UnspecifiedMatching +OMIM:602931 SMAD6 skos:exactMatch hgnc.symbol:SMAD6 semapv:UnspecifiedMatching OMIM:602931 SMAD6 skos:exactMatch ncbigene:4091 semapv:UnspecifiedMatching OMIM:602932 SMAD7 skos:exactMatch UMLS:C1334470 semapv:UnspecifiedMatching OMIM:602932 SMAD7 skos:exactMatch UMLS:C2677123 semapv:UnspecifiedMatching -OMIM:602932 SMAD7 skos:exactMatch hgnc:SMAD7 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch hgnc.symbol:6773 semapv:UnspecifiedMatching +OMIM:602932 SMAD7 skos:exactMatch hgnc.symbol:SMAD7 semapv:UnspecifiedMatching OMIM:602932 SMAD7 skos:exactMatch ncbigene:4092 semapv:UnspecifiedMatching -OMIM:602933 TRIP6 skos:exactMatch hgnc:TRIP6 semapv:UnspecifiedMatching +OMIM:602933 TRIP6 skos:exactMatch hgnc.symbol:12311 semapv:UnspecifiedMatching +OMIM:602933 TRIP6 skos:exactMatch hgnc.symbol:TRIP6 semapv:UnspecifiedMatching OMIM:602933 TRIP6 skos:exactMatch ncbigene:7205 semapv:UnspecifiedMatching -OMIM:602934 SDF2 skos:exactMatch hgnc:SDF2 semapv:UnspecifiedMatching +OMIM:602934 SDF2 skos:exactMatch hgnc.symbol:10675 semapv:UnspecifiedMatching +OMIM:602934 SDF2 skos:exactMatch hgnc.symbol:SDF2 semapv:UnspecifiedMatching OMIM:602934 SDF2 skos:exactMatch ncbigene:6388 semapv:UnspecifiedMatching -OMIM:602935 FAAH skos:exactMatch hgnc:FAAH semapv:UnspecifiedMatching +OMIM:602935 FAAH skos:exactMatch hgnc.symbol:3553 semapv:UnspecifiedMatching +OMIM:602935 FAAH skos:exactMatch hgnc.symbol:FAAH semapv:UnspecifiedMatching OMIM:602935 FAAH skos:exactMatch ncbigene:2166 semapv:UnspecifiedMatching -OMIM:602937 CITED2 skos:exactMatch hgnc:CITED2 semapv:UnspecifiedMatching +OMIM:602937 CITED2 skos:exactMatch hgnc.symbol:1987 semapv:UnspecifiedMatching +OMIM:602937 CITED2 skos:exactMatch hgnc.symbol:CITED2 semapv:UnspecifiedMatching OMIM:602937 CITED2 skos:exactMatch ncbigene:10370 semapv:UnspecifiedMatching -OMIM:602938 BAAT skos:exactMatch hgnc:BAAT semapv:UnspecifiedMatching +OMIM:602938 BAAT skos:exactMatch hgnc.symbol:932 semapv:UnspecifiedMatching +OMIM:602938 BAAT skos:exactMatch hgnc.symbol:BAAT semapv:UnspecifiedMatching OMIM:602938 BAAT skos:exactMatch ncbigene:570 semapv:UnspecifiedMatching -OMIM:602939 FOXS1 skos:exactMatch hgnc:FOXS1 semapv:UnspecifiedMatching +OMIM:602939 FOXS1 skos:exactMatch hgnc.symbol:3735 semapv:UnspecifiedMatching +OMIM:602939 FOXS1 skos:exactMatch hgnc.symbol:FOXS1 semapv:UnspecifiedMatching OMIM:602939 FOXS1 skos:exactMatch ncbigene:2307 semapv:UnspecifiedMatching -OMIM:602940 MARCKSL1 skos:exactMatch hgnc:MARCKSL1 semapv:UnspecifiedMatching +OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:7142 semapv:UnspecifiedMatching +OMIM:602940 MARCKSL1 skos:exactMatch hgnc.symbol:MARCKSL1 semapv:UnspecifiedMatching OMIM:602940 MARCKSL1 skos:exactMatch ncbigene:65108 semapv:UnspecifiedMatching OMIM:602941 BCAR1 skos:exactMatch UMLS:C1366459 semapv:UnspecifiedMatching -OMIM:602941 BCAR1 skos:exactMatch hgnc:BCAR1 semapv:UnspecifiedMatching +OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:971 semapv:UnspecifiedMatching +OMIM:602941 BCAR1 skos:exactMatch hgnc.symbol:BCAR1 semapv:UnspecifiedMatching OMIM:602941 BCAR1 skos:exactMatch ncbigene:9564 semapv:UnspecifiedMatching -OMIM:602942 EVI5 skos:exactMatch hgnc:EVI5 semapv:UnspecifiedMatching +OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:3501 semapv:UnspecifiedMatching +OMIM:602942 EVI5 skos:exactMatch hgnc.symbol:EVI5 semapv:UnspecifiedMatching OMIM:602942 EVI5 skos:exactMatch ncbigene:7813 semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch UMLS:C1419603 semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch UMLS:C4225266 semapv:UnspecifiedMatching -OMIM:602943 RORC skos:exactMatch hgnc:RORC semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch hgnc.symbol:10260 semapv:UnspecifiedMatching +OMIM:602943 RORC skos:exactMatch hgnc.symbol:RORC semapv:UnspecifiedMatching OMIM:602943 RORC skos:exactMatch ncbigene:6097 semapv:UnspecifiedMatching -OMIM:602944 E2F6 skos:exactMatch hgnc:E2F6 semapv:UnspecifiedMatching +OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:3120 semapv:UnspecifiedMatching +OMIM:602944 E2F6 skos:exactMatch hgnc.symbol:E2F6 semapv:UnspecifiedMatching OMIM:602944 E2F6 skos:exactMatch ncbigene:1876 semapv:UnspecifiedMatching -OMIM:602945 TADA3 skos:exactMatch hgnc:TADA3 semapv:UnspecifiedMatching +OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:19422 semapv:UnspecifiedMatching +OMIM:602945 TADA3 skos:exactMatch hgnc.symbol:TADA3 semapv:UnspecifiedMatching OMIM:602945 TADA3 skos:exactMatch ncbigene:10474 semapv:UnspecifiedMatching -OMIM:602946 TAF6L skos:exactMatch hgnc:TAF6L semapv:UnspecifiedMatching +OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:17305 semapv:UnspecifiedMatching +OMIM:602946 TAF6L skos:exactMatch hgnc.symbol:TAF6L semapv:UnspecifiedMatching OMIM:602946 TAF6L skos:exactMatch ncbigene:10629 semapv:UnspecifiedMatching OMIM:602947 SUPT3H skos:exactMatch UMLS:C0812266 semapv:UnspecifiedMatching -OMIM:602947 SUPT3H skos:exactMatch hgnc:SUPT3H semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:11466 semapv:UnspecifiedMatching +OMIM:602947 SUPT3H skos:exactMatch hgnc.symbol:SUPT3H semapv:UnspecifiedMatching OMIM:602947 SUPT3H skos:exactMatch ncbigene:8464 semapv:UnspecifiedMatching -OMIM:602948 RAD51B skos:exactMatch hgnc:RAD51B semapv:UnspecifiedMatching +OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:9822 semapv:UnspecifiedMatching +OMIM:602948 RAD51B skos:exactMatch hgnc.symbol:RAD51B semapv:UnspecifiedMatching OMIM:602948 RAD51B skos:exactMatch ncbigene:5890 semapv:UnspecifiedMatching -OMIM:602949 SAP18 skos:exactMatch hgnc:SAP18 semapv:UnspecifiedMatching +OMIM:602949 SAP18 skos:exactMatch hgnc.symbol:10530 semapv:UnspecifiedMatching +OMIM:602949 SAP18 skos:exactMatch hgnc.symbol:SAP18 semapv:UnspecifiedMatching OMIM:602949 SAP18 skos:exactMatch ncbigene:10284 semapv:UnspecifiedMatching -OMIM:602950 PRMT1 skos:exactMatch hgnc:PRMT1 semapv:UnspecifiedMatching +OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:5187 semapv:UnspecifiedMatching +OMIM:602950 PRMT1 skos:exactMatch hgnc.symbol:PRMT1 semapv:UnspecifiedMatching OMIM:602950 PRMT1 skos:exactMatch ncbigene:3276 semapv:UnspecifiedMatching -OMIM:602951 ZFP37 skos:exactMatch hgnc:ZFP37 semapv:UnspecifiedMatching +OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:12863 semapv:UnspecifiedMatching +OMIM:602951 ZFP37 skos:exactMatch hgnc.symbol:ZFP37 semapv:UnspecifiedMatching OMIM:602951 ZFP37 skos:exactMatch ncbigene:7539 semapv:UnspecifiedMatching -OMIM:602952 NSD2 skos:exactMatch hgnc:NSD2 semapv:UnspecifiedMatching +OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:12766 semapv:UnspecifiedMatching +OMIM:602952 NSD2 skos:exactMatch hgnc.symbol:NSD2 semapv:UnspecifiedMatching OMIM:602952 NSD2 skos:exactMatch ncbigene:7468 semapv:UnspecifiedMatching OMIM:602953 HEY1 skos:exactMatch UMLS:C1415524 semapv:UnspecifiedMatching -OMIM:602953 HEY1 skos:exactMatch hgnc:HEY1 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:4880 semapv:UnspecifiedMatching +OMIM:602953 HEY1 skos:exactMatch hgnc.symbol:HEY1 semapv:UnspecifiedMatching OMIM:602953 HEY1 skos:exactMatch ncbigene:23462 semapv:UnspecifiedMatching -OMIM:602954 RAD51D skos:exactMatch hgnc:RAD51D semapv:UnspecifiedMatching +OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:9823 semapv:UnspecifiedMatching +OMIM:602954 RAD51D skos:exactMatch hgnc.symbol:RAD51D semapv:UnspecifiedMatching OMIM:602954 RAD51D skos:exactMatch ncbigene:5892 semapv:UnspecifiedMatching -OMIM:602955 TAF6 skos:exactMatch hgnc:TAF6 semapv:UnspecifiedMatching +OMIM:602955 TAF6 skos:exactMatch hgnc.symbol:11540 semapv:UnspecifiedMatching +OMIM:602955 TAF6 skos:exactMatch hgnc.symbol:TAF6 semapv:UnspecifiedMatching OMIM:602955 TAF6 skos:exactMatch ncbigene:6878 semapv:UnspecifiedMatching -OMIM:602956 FANCG skos:exactMatch hgnc:FANCG semapv:UnspecifiedMatching +OMIM:602956 FANCG skos:exactMatch hgnc.symbol:3588 semapv:UnspecifiedMatching +OMIM:602956 FANCG skos:exactMatch hgnc.symbol:FANCG semapv:UnspecifiedMatching OMIM:602956 FANCG skos:exactMatch ncbigene:2189 semapv:UnspecifiedMatching -OMIM:602957 CCL22 skos:exactMatch hgnc:CCL22 semapv:UnspecifiedMatching +OMIM:602957 CCL22 skos:exactMatch hgnc.symbol:10621 semapv:UnspecifiedMatching +OMIM:602957 CCL22 skos:exactMatch hgnc.symbol:CCL22 semapv:UnspecifiedMatching OMIM:602957 CCL22 skos:exactMatch ncbigene:6367 semapv:UnspecifiedMatching -OMIM:602958 SGK1 skos:exactMatch hgnc:SGK1 semapv:UnspecifiedMatching +OMIM:602958 SGK1 skos:exactMatch hgnc.symbol:10810 semapv:UnspecifiedMatching +OMIM:602958 SGK1 skos:exactMatch hgnc.symbol:SGK1 semapv:UnspecifiedMatching OMIM:602958 SGK1 skos:exactMatch ncbigene:6446 semapv:UnspecifiedMatching OMIM:602959 EEF1A2 skos:exactMatch UMLS:C1414273 semapv:UnspecifiedMatching OMIM:602959 EEF1A2 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching OMIM:602959 EEF1A2 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching -OMIM:602959 EEF1A2 skos:exactMatch hgnc:EEF1A2 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:3192 semapv:UnspecifiedMatching +OMIM:602959 EEF1A2 skos:exactMatch hgnc.symbol:EEF1A2 semapv:UnspecifiedMatching OMIM:602959 EEF1A2 skos:exactMatch ncbigene:1917 semapv:UnspecifiedMatching -OMIM:602961 UBE2D1 skos:exactMatch hgnc:UBE2D1 semapv:UnspecifiedMatching +OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:12474 semapv:UnspecifiedMatching +OMIM:602961 UBE2D1 skos:exactMatch hgnc.symbol:UBE2D1 semapv:UnspecifiedMatching OMIM:602961 UBE2D1 skos:exactMatch ncbigene:7321 semapv:UnspecifiedMatching -OMIM:602962 UBE2D2 skos:exactMatch hgnc:UBE2D2 semapv:UnspecifiedMatching +OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:12475 semapv:UnspecifiedMatching +OMIM:602962 UBE2D2 skos:exactMatch hgnc.symbol:UBE2D2 semapv:UnspecifiedMatching OMIM:602962 UBE2D2 skos:exactMatch ncbigene:7322 semapv:UnspecifiedMatching -OMIM:602963 UBE2D3 skos:exactMatch hgnc:UBE2D3 semapv:UnspecifiedMatching +OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:12476 semapv:UnspecifiedMatching +OMIM:602963 UBE2D3 skos:exactMatch hgnc.symbol:UBE2D3 semapv:UnspecifiedMatching OMIM:602963 UBE2D3 skos:exactMatch ncbigene:7323 semapv:UnspecifiedMatching -OMIM:602964 TSNAX skos:exactMatch hgnc:TSNAX semapv:UnspecifiedMatching +OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:12380 semapv:UnspecifiedMatching +OMIM:602964 TSNAX skos:exactMatch hgnc.symbol:TSNAX semapv:UnspecifiedMatching OMIM:602964 TSNAX skos:exactMatch ncbigene:7257 semapv:UnspecifiedMatching -OMIM:602965 FABP7 skos:exactMatch hgnc:FABP7 semapv:UnspecifiedMatching +OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:3562 semapv:UnspecifiedMatching +OMIM:602965 FABP7 skos:exactMatch hgnc.symbol:FABP7 semapv:UnspecifiedMatching OMIM:602965 FABP7 skos:exactMatch ncbigene:2173 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:602966 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch orphanet.ordo:141291 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch orphanet.ordo:199302 semapv:UnspecifiedMatching -OMIM:602966 orofacial cleft 2 skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching -OMIM:602967 ZNF217 skos:exactMatch hgnc:ZNF217 semapv:UnspecifiedMatching +OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:13009 semapv:UnspecifiedMatching +OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:ZNF217 semapv:UnspecifiedMatching OMIM:602967 ZNF217 skos:exactMatch ncbigene:7764 semapv:UnspecifiedMatching -OMIM:602968 BCAS1 skos:exactMatch hgnc:BCAS1 semapv:UnspecifiedMatching +OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:974 semapv:UnspecifiedMatching +OMIM:602968 BCAS1 skos:exactMatch hgnc.symbol:BCAS1 semapv:UnspecifiedMatching OMIM:602968 BCAS1 skos:exactMatch ncbigene:8537 semapv:UnspecifiedMatching -OMIM:602969 ESRRG skos:exactMatch hgnc:ESRRG semapv:UnspecifiedMatching +OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:3474 semapv:UnspecifiedMatching +OMIM:602969 ESRRG skos:exactMatch hgnc.symbol:ESRRG semapv:UnspecifiedMatching OMIM:602969 ESRRG skos:exactMatch ncbigene:2104 semapv:UnspecifiedMatching -OMIM:602970 KPNA4 skos:exactMatch hgnc:KPNA4 semapv:UnspecifiedMatching +OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:6397 semapv:UnspecifiedMatching +OMIM:602970 KPNA4 skos:exactMatch hgnc.symbol:KPNA4 semapv:UnspecifiedMatching OMIM:602970 KPNA4 skos:exactMatch ncbigene:3840 semapv:UnspecifiedMatching -OMIM:602971 TBCC skos:exactMatch hgnc:TBCC semapv:UnspecifiedMatching +OMIM:602971 TBCC skos:exactMatch hgnc.symbol:11580 semapv:UnspecifiedMatching +OMIM:602971 TBCC skos:exactMatch hgnc.symbol:TBCC semapv:UnspecifiedMatching OMIM:602971 TBCC skos:exactMatch ncbigene:6903 semapv:UnspecifiedMatching -OMIM:602972 PDE8A skos:exactMatch hgnc:PDE8A semapv:UnspecifiedMatching +OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:8793 semapv:UnspecifiedMatching +OMIM:602972 PDE8A skos:exactMatch hgnc.symbol:PDE8A semapv:UnspecifiedMatching OMIM:602972 PDE8A skos:exactMatch ncbigene:5151 semapv:UnspecifiedMatching -OMIM:602973 PDE9A skos:exactMatch hgnc:PDE9A semapv:UnspecifiedMatching +OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:8795 semapv:UnspecifiedMatching +OMIM:602973 PDE9A skos:exactMatch hgnc.symbol:PDE9A semapv:UnspecifiedMatching OMIM:602973 PDE9A skos:exactMatch ncbigene:5152 semapv:UnspecifiedMatching -OMIM:602974 AQP7 skos:exactMatch hgnc:AQP7 semapv:UnspecifiedMatching +OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:640 semapv:UnspecifiedMatching +OMIM:602974 AQP7 skos:exactMatch hgnc.symbol:AQP7 semapv:UnspecifiedMatching OMIM:602974 AQP7 skos:exactMatch ncbigene:364 semapv:UnspecifiedMatching -OMIM:602976 MLX skos:exactMatch hgnc:MLX semapv:UnspecifiedMatching +OMIM:602976 MLX skos:exactMatch hgnc.symbol:11645 semapv:UnspecifiedMatching +OMIM:602976 MLX skos:exactMatch hgnc.symbol:MLX semapv:UnspecifiedMatching OMIM:602976 MLX skos:exactMatch ncbigene:6945 semapv:UnspecifiedMatching -OMIM:602977 GP2 skos:exactMatch hgnc:GP2 semapv:UnspecifiedMatching +OMIM:602977 GP2 skos:exactMatch hgnc.symbol:4441 semapv:UnspecifiedMatching +OMIM:602977 GP2 skos:exactMatch hgnc.symbol:GP2 semapv:UnspecifiedMatching OMIM:602977 GP2 skos:exactMatch ncbigene:2813 semapv:UnspecifiedMatching -OMIM:602978 PHC1 skos:exactMatch hgnc:PHC1 semapv:UnspecifiedMatching +OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:3182 semapv:UnspecifiedMatching +OMIM:602978 PHC1 skos:exactMatch hgnc.symbol:PHC1 semapv:UnspecifiedMatching OMIM:602978 PHC1 skos:exactMatch ncbigene:1911 semapv:UnspecifiedMatching -OMIM:602979 PHC2 skos:exactMatch hgnc:PHC2 semapv:UnspecifiedMatching +OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:3183 semapv:UnspecifiedMatching +OMIM:602979 PHC2 skos:exactMatch hgnc.symbol:PHC2 semapv:UnspecifiedMatching OMIM:602979 PHC2 skos:exactMatch ncbigene:1912 semapv:UnspecifiedMatching -OMIM:602980 SRPK2 skos:exactMatch hgnc:SRPK2 semapv:UnspecifiedMatching +OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:11306 semapv:UnspecifiedMatching +OMIM:602980 SRPK2 skos:exactMatch hgnc.symbol:SRPK2 semapv:UnspecifiedMatching OMIM:602980 SRPK2 skos:exactMatch ncbigene:6733 semapv:UnspecifiedMatching -OMIM:602981 AEBP1 skos:exactMatch hgnc:AEBP1 semapv:UnspecifiedMatching +OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:303 semapv:UnspecifiedMatching +OMIM:602981 AEBP1 skos:exactMatch hgnc.symbol:AEBP1 semapv:UnspecifiedMatching OMIM:602981 AEBP1 skos:exactMatch ncbigene:165 semapv:UnspecifiedMatching -OMIM:602982 KCNN1 skos:exactMatch hgnc:KCNN1 semapv:UnspecifiedMatching +OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:6290 semapv:UnspecifiedMatching +OMIM:602982 KCNN1 skos:exactMatch hgnc.symbol:KCNN1 semapv:UnspecifiedMatching OMIM:602982 KCNN1 skos:exactMatch ncbigene:3780 semapv:UnspecifiedMatching -OMIM:602983 KCNN3 skos:exactMatch hgnc:KCNN3 semapv:UnspecifiedMatching +OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:6292 semapv:UnspecifiedMatching +OMIM:602983 KCNN3 skos:exactMatch hgnc.symbol:KCNN3 semapv:UnspecifiedMatching OMIM:602983 KCNN3 skos:exactMatch ncbigene:3782 semapv:UnspecifiedMatching -OMIM:602984 MED6 skos:exactMatch hgnc:MED6 semapv:UnspecifiedMatching +OMIM:602984 MED6 skos:exactMatch hgnc.symbol:19970 semapv:UnspecifiedMatching +OMIM:602984 MED6 skos:exactMatch hgnc.symbol:MED6 semapv:UnspecifiedMatching OMIM:602984 MED6 skos:exactMatch ncbigene:10001 semapv:UnspecifiedMatching -OMIM:602985 NDUFS2 skos:exactMatch hgnc:NDUFS2 semapv:UnspecifiedMatching +OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:7708 semapv:UnspecifiedMatching +OMIM:602985 NDUFS2 skos:exactMatch hgnc.symbol:NDUFS2 semapv:UnspecifiedMatching OMIM:602985 NDUFS2 skos:exactMatch ncbigene:4720 semapv:UnspecifiedMatching -OMIM:602986 DRG2 skos:exactMatch hgnc:DRG2 semapv:UnspecifiedMatching +OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:3030 semapv:UnspecifiedMatching +OMIM:602986 DRG2 skos:exactMatch hgnc.symbol:DRG2 semapv:UnspecifiedMatching OMIM:602986 DRG2 skos:exactMatch ncbigene:1819 semapv:UnspecifiedMatching -OMIM:602987 PDE1C skos:exactMatch hgnc:PDE1C semapv:UnspecifiedMatching +OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:8776 semapv:UnspecifiedMatching +OMIM:602987 PDE1C skos:exactMatch hgnc.symbol:PDE1C semapv:UnspecifiedMatching OMIM:602987 PDE1C skos:exactMatch ncbigene:5137 semapv:UnspecifiedMatching -OMIM:602988 PCDH7 skos:exactMatch hgnc:PCDH7 semapv:UnspecifiedMatching +OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:8659 semapv:UnspecifiedMatching +OMIM:602988 PCDH7 skos:exactMatch hgnc.symbol:PCDH7 semapv:UnspecifiedMatching OMIM:602988 PCDH7 skos:exactMatch ncbigene:5099 semapv:UnspecifiedMatching -OMIM:602989 CLK2 skos:exactMatch hgnc:CLK2 semapv:UnspecifiedMatching +OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:2069 semapv:UnspecifiedMatching +OMIM:602989 CLK2 skos:exactMatch hgnc.symbol:CLK2 semapv:UnspecifiedMatching OMIM:602989 CLK2 skos:exactMatch ncbigene:1196 semapv:UnspecifiedMatching -OMIM:602990 CLK3 skos:exactMatch hgnc:CLK3 semapv:UnspecifiedMatching +OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:2071 semapv:UnspecifiedMatching +OMIM:602990 CLK3 skos:exactMatch hgnc.symbol:CLK3 semapv:UnspecifiedMatching OMIM:602990 CLK3 skos:exactMatch ncbigene:1198 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C0342282 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C1417753 semapv:UnspecifiedMatching @@ -14935,560 +20329,805 @@ OMIM:602991 NOG skos:exactMatch UMLS:C1861305 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C1866656 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch UMLS:C3714899 semapv:UnspecifiedMatching -OMIM:602991 NOG skos:exactMatch hgnc:NOG semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch hgnc.symbol:7866 semapv:UnspecifiedMatching +OMIM:602991 NOG skos:exactMatch hgnc.symbol:NOG semapv:UnspecifiedMatching OMIM:602991 NOG skos:exactMatch ncbigene:9241 semapv:UnspecifiedMatching -OMIM:602992 LAIR1 skos:exactMatch hgnc:LAIR1 semapv:UnspecifiedMatching +OMIM:602992 LAIR1 skos:exactMatch hgnc.symbol:6477 semapv:UnspecifiedMatching +OMIM:602992 LAIR1 skos:exactMatch hgnc.symbol:LAIR1 semapv:UnspecifiedMatching OMIM:602992 LAIR1 skos:exactMatch ncbigene:3903 semapv:UnspecifiedMatching -OMIM:602993 LAIR2 skos:exactMatch hgnc:LAIR2 semapv:UnspecifiedMatching +OMIM:602993 LAIR2 skos:exactMatch hgnc.symbol:6478 semapv:UnspecifiedMatching +OMIM:602993 LAIR2 skos:exactMatch hgnc.symbol:LAIR2 semapv:UnspecifiedMatching OMIM:602993 LAIR2 skos:exactMatch ncbigene:3904 semapv:UnspecifiedMatching -OMIM:602995 UBE2V1 skos:exactMatch hgnc:UBE2V1 semapv:UnspecifiedMatching +OMIM:602995 UBE2V1 skos:exactMatch hgnc.symbol:12494 semapv:UnspecifiedMatching +OMIM:602995 UBE2V1 skos:exactMatch hgnc.symbol:UBE2V1 semapv:UnspecifiedMatching OMIM:602995 UBE2V1 skos:exactMatch ncbigene:7335 semapv:UnspecifiedMatching -OMIM:602996 IER3 skos:exactMatch hgnc:IER3 semapv:UnspecifiedMatching +OMIM:602996 IER3 skos:exactMatch hgnc.symbol:5392 semapv:UnspecifiedMatching +OMIM:602996 IER3 skos:exactMatch hgnc.symbol:IER3 semapv:UnspecifiedMatching OMIM:602996 IER3 skos:exactMatch ncbigene:8870 semapv:UnspecifiedMatching OMIM:602997 CUBN skos:exactMatch UMLS:C1413823 semapv:UnspecifiedMatching OMIM:602997 CUBN skos:exactMatch UMLS:C4551825 semapv:UnspecifiedMatching OMIM:602997 CUBN skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching -OMIM:602997 CUBN skos:exactMatch hgnc:CUBN semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch hgnc.symbol:2548 semapv:UnspecifiedMatching +OMIM:602997 CUBN skos:exactMatch hgnc.symbol:CUBN semapv:UnspecifiedMatching OMIM:602997 CUBN skos:exactMatch ncbigene:8029 semapv:UnspecifiedMatching -OMIM:602998 SNCG skos:exactMatch hgnc:SNCG semapv:UnspecifiedMatching +OMIM:602998 SNCG skos:exactMatch hgnc.symbol:11141 semapv:UnspecifiedMatching +OMIM:602998 SNCG skos:exactMatch hgnc.symbol:SNCG semapv:UnspecifiedMatching OMIM:602998 SNCG skos:exactMatch ncbigene:6623 semapv:UnspecifiedMatching -OMIM:602999 PPP1R3C skos:exactMatch hgnc:PPP1R3C semapv:UnspecifiedMatching +OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:9293 semapv:UnspecifiedMatching +OMIM:602999 PPP1R3C skos:exactMatch hgnc.symbol:PPP1R3C semapv:UnspecifiedMatching OMIM:602999 PPP1R3C skos:exactMatch ncbigene:5507 semapv:UnspecifiedMatching -OMIM:603000 MRPL58 skos:exactMatch hgnc:MRPL58 semapv:UnspecifiedMatching +OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:5359 semapv:UnspecifiedMatching +OMIM:603000 MRPL58 skos:exactMatch hgnc.symbol:MRPL58 semapv:UnspecifiedMatching OMIM:603000 MRPL58 skos:exactMatch ncbigene:3396 semapv:UnspecifiedMatching -OMIM:603001 UBE2V2 skos:exactMatch hgnc:UBE2V2 semapv:UnspecifiedMatching +OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:12495 semapv:UnspecifiedMatching +OMIM:603001 UBE2V2 skos:exactMatch hgnc.symbol:UBE2V2 semapv:UnspecifiedMatching OMIM:603001 UBE2V2 skos:exactMatch ncbigene:7336 semapv:UnspecifiedMatching -OMIM:603002 TNPO2 skos:exactMatch hgnc:TNPO2 semapv:UnspecifiedMatching +OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:19998 semapv:UnspecifiedMatching +OMIM:603002 TNPO2 skos:exactMatch hgnc.symbol:TNPO2 semapv:UnspecifiedMatching OMIM:603002 TNPO2 skos:exactMatch ncbigene:30000 semapv:UnspecifiedMatching -OMIM:603004 NIPSNAP2 skos:exactMatch hgnc:NIPSNAP2 semapv:UnspecifiedMatching +OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:4179 semapv:UnspecifiedMatching +OMIM:603004 NIPSNAP2 skos:exactMatch hgnc.symbol:NIPSNAP2 semapv:UnspecifiedMatching OMIM:603004 NIPSNAP2 skos:exactMatch ncbigene:2631 semapv:UnspecifiedMatching -OMIM:603005 PAPSS2 skos:exactMatch hgnc:PAPSS2 semapv:UnspecifiedMatching +OMIM:603005 PAPSS2 skos:exactMatch hgnc.symbol:8604 semapv:UnspecifiedMatching +OMIM:603005 PAPSS2 skos:exactMatch hgnc.symbol:PAPSS2 semapv:UnspecifiedMatching OMIM:603005 PAPSS2 skos:exactMatch ncbigene:9060 semapv:UnspecifiedMatching -OMIM:603006 CDH4 skos:exactMatch hgnc:CDH4 semapv:UnspecifiedMatching +OMIM:603006 CDH4 skos:exactMatch hgnc.symbol:1763 semapv:UnspecifiedMatching +OMIM:603006 CDH4 skos:exactMatch hgnc.symbol:CDH4 semapv:UnspecifiedMatching OMIM:603006 CDH4 skos:exactMatch ncbigene:1002 semapv:UnspecifiedMatching -OMIM:603007 CDH6 skos:exactMatch hgnc:CDH6 semapv:UnspecifiedMatching +OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:1765 semapv:UnspecifiedMatching +OMIM:603007 CDH6 skos:exactMatch hgnc.symbol:CDH6 semapv:UnspecifiedMatching OMIM:603007 CDH6 skos:exactMatch ncbigene:1004 semapv:UnspecifiedMatching -OMIM:603008 CDH8 skos:exactMatch hgnc:CDH8 semapv:UnspecifiedMatching +OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:1767 semapv:UnspecifiedMatching +OMIM:603008 CDH8 skos:exactMatch hgnc.symbol:CDH8 semapv:UnspecifiedMatching OMIM:603008 CDH8 skos:exactMatch ncbigene:1006 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch UMLS:C1414209 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch UMLS:C1847532 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch UMLS:C1850889 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch UMLS:C4551973 semapv:UnspecifiedMatching -OMIM:603009 DYSF skos:exactMatch hgnc:DYSF semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch hgnc.symbol:3097 semapv:UnspecifiedMatching +OMIM:603009 DYSF skos:exactMatch hgnc.symbol:DYSF semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch ncbigene:8291 semapv:UnspecifiedMatching -OMIM:603011 SERF1A skos:exactMatch hgnc:SERF1A semapv:UnspecifiedMatching +OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:10755 semapv:UnspecifiedMatching +OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:SERF1A semapv:UnspecifiedMatching OMIM:603011 SERF1A skos:exactMatch ncbigene:8293 semapv:UnspecifiedMatching -OMIM:603012 HSPA1B skos:exactMatch hgnc:HSPA1B semapv:UnspecifiedMatching +OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:5233 semapv:UnspecifiedMatching +OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:HSPA1B semapv:UnspecifiedMatching OMIM:603012 HSPA1B skos:exactMatch ncbigene:3304 semapv:UnspecifiedMatching -OMIM:603014 MAP2K7 skos:exactMatch hgnc:MAP2K7 semapv:UnspecifiedMatching +OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:6847 semapv:UnspecifiedMatching +OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:MAP2K7 semapv:UnspecifiedMatching OMIM:603014 MAP2K7 skos:exactMatch ncbigene:5609 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C1336677 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5193193 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5193194 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5193229 semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching -OMIM:603015 TRRAP skos:exactMatch hgnc:TRRAP semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:12347 semapv:UnspecifiedMatching +OMIM:603015 TRRAP skos:exactMatch hgnc.symbol:TRRAP semapv:UnspecifiedMatching OMIM:603015 TRRAP skos:exactMatch ncbigene:8295 semapv:UnspecifiedMatching -OMIM:603016 CDH19 skos:exactMatch hgnc:CDH19 semapv:UnspecifiedMatching +OMIM:603016 CDH19 skos:exactMatch hgnc.symbol:1758 semapv:UnspecifiedMatching +OMIM:603016 CDH19 skos:exactMatch hgnc.symbol:CDH19 semapv:UnspecifiedMatching OMIM:603016 CDH19 skos:exactMatch ncbigene:28513 semapv:UnspecifiedMatching -OMIM:603017 CDH17 skos:exactMatch hgnc:CDH17 semapv:UnspecifiedMatching +OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:1756 semapv:UnspecifiedMatching +OMIM:603017 CDH17 skos:exactMatch hgnc.symbol:CDH17 semapv:UnspecifiedMatching OMIM:603017 CDH17 skos:exactMatch ncbigene:1015 semapv:UnspecifiedMatching -OMIM:603018 B3GALT2 skos:exactMatch hgnc:B3GALT2 semapv:UnspecifiedMatching +OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:917 semapv:UnspecifiedMatching +OMIM:603018 B3GALT2 skos:exactMatch hgnc.symbol:B3GALT2 semapv:UnspecifiedMatching OMIM:603018 B3GALT2 skos:exactMatch ncbigene:8707 semapv:UnspecifiedMatching -OMIM:603019 CDH18 skos:exactMatch hgnc:CDH18 semapv:UnspecifiedMatching +OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:1757 semapv:UnspecifiedMatching +OMIM:603019 CDH18 skos:exactMatch hgnc.symbol:CDH18 semapv:UnspecifiedMatching OMIM:603019 CDH18 skos:exactMatch ncbigene:1016 semapv:UnspecifiedMatching -OMIM:603020 AFG3L1P skos:exactMatch hgnc:AFG3L1P semapv:UnspecifiedMatching +OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:314 semapv:UnspecifiedMatching +OMIM:603020 AFG3L1P skos:exactMatch hgnc.symbol:AFG3L1P semapv:UnspecifiedMatching OMIM:603020 AFG3L1P skos:exactMatch ncbigene:172 semapv:UnspecifiedMatching -OMIM:603021 MRPS12 skos:exactMatch hgnc:MRPS12 semapv:UnspecifiedMatching +OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:10380 semapv:UnspecifiedMatching +OMIM:603021 MRPS12 skos:exactMatch hgnc.symbol:MRPS12 semapv:UnspecifiedMatching OMIM:603021 MRPS12 skos:exactMatch ncbigene:6183 semapv:UnspecifiedMatching -OMIM:603022 E4F1 skos:exactMatch hgnc:E4F1 semapv:UnspecifiedMatching +OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:3121 semapv:UnspecifiedMatching +OMIM:603022 E4F1 skos:exactMatch hgnc.symbol:E4F1 semapv:UnspecifiedMatching OMIM:603022 E4F1 skos:exactMatch ncbigene:1877 semapv:UnspecifiedMatching -OMIM:603023 IKZF1 skos:exactMatch hgnc:IKZF1 semapv:UnspecifiedMatching +OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:13176 semapv:UnspecifiedMatching +OMIM:603023 IKZF1 skos:exactMatch hgnc.symbol:IKZF1 semapv:UnspecifiedMatching OMIM:603023 IKZF1 skos:exactMatch ncbigene:10320 semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch UMLS:C1420251 semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch UMLS:C3553247 semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch UMLS:C4310916 semapv:UnspecifiedMatching -OMIM:603024 ARID1A skos:exactMatch hgnc:ARID1A semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:11110 semapv:UnspecifiedMatching +OMIM:603024 ARID1A skos:exactMatch hgnc.symbol:ARID1A semapv:UnspecifiedMatching OMIM:603024 ARID1A skos:exactMatch ncbigene:8289 semapv:UnspecifiedMatching -OMIM:603025 PICALM skos:exactMatch hgnc:PICALM semapv:UnspecifiedMatching +OMIM:603025 PICALM skos:exactMatch hgnc.symbol:15514 semapv:UnspecifiedMatching +OMIM:603025 PICALM skos:exactMatch hgnc.symbol:PICALM semapv:UnspecifiedMatching OMIM:603025 PICALM skos:exactMatch ncbigene:8301 semapv:UnspecifiedMatching OMIM:603026 PLAG1 skos:exactMatch UMLS:C1418629 semapv:UnspecifiedMatching OMIM:603026 PLAG1 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching -OMIM:603026 PLAG1 skos:exactMatch hgnc:PLAG1 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:9045 semapv:UnspecifiedMatching +OMIM:603026 PLAG1 skos:exactMatch hgnc.symbol:PLAG1 semapv:UnspecifiedMatching OMIM:603026 PLAG1 skos:exactMatch ncbigene:5324 semapv:UnspecifiedMatching -OMIM:603027 FBP2 skos:exactMatch hgnc:FBP2 semapv:UnspecifiedMatching +OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:3607 semapv:UnspecifiedMatching +OMIM:603027 FBP2 skos:exactMatch hgnc.symbol:FBP2 semapv:UnspecifiedMatching OMIM:603027 FBP2 skos:exactMatch ncbigene:8789 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch UMLS:C1336634 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch UMLS:C1834752 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch UMLS:C1858438 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch UMLS:C1968668 semapv:UnspecifiedMatching -OMIM:603028 TLR2 skos:exactMatch hgnc:TLR2 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:11848 semapv:UnspecifiedMatching +OMIM:603028 TLR2 skos:exactMatch hgnc.symbol:TLR2 semapv:UnspecifiedMatching OMIM:603028 TLR2 skos:exactMatch ncbigene:7097 semapv:UnspecifiedMatching -OMIM:603029 TLR3 skos:exactMatch hgnc:TLR3 semapv:UnspecifiedMatching +OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:11849 semapv:UnspecifiedMatching +OMIM:603029 TLR3 skos:exactMatch hgnc.symbol:TLR3 semapv:UnspecifiedMatching OMIM:603029 TLR3 skos:exactMatch ncbigene:7098 semapv:UnspecifiedMatching OMIM:603030 TLR4 skos:exactMatch UMLS:C1336636 semapv:UnspecifiedMatching OMIM:603030 TLR4 skos:exactMatch UMLS:C4310915 semapv:UnspecifiedMatching -OMIM:603030 TLR4 skos:exactMatch hgnc:TLR4 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:11850 semapv:UnspecifiedMatching +OMIM:603030 TLR4 skos:exactMatch hgnc.symbol:TLR4 semapv:UnspecifiedMatching OMIM:603030 TLR4 skos:exactMatch ncbigene:7099 semapv:UnspecifiedMatching -OMIM:603031 TLR5 skos:exactMatch hgnc:TLR5 semapv:UnspecifiedMatching +OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:11851 semapv:UnspecifiedMatching +OMIM:603031 TLR5 skos:exactMatch hgnc.symbol:TLR5 semapv:UnspecifiedMatching OMIM:603031 TLR5 skos:exactMatch ncbigene:7100 semapv:UnspecifiedMatching -OMIM:603032 SNN skos:exactMatch hgnc:SNN semapv:UnspecifiedMatching +OMIM:603032 SNN skos:exactMatch hgnc.symbol:11149 semapv:UnspecifiedMatching +OMIM:603032 SNN skos:exactMatch hgnc.symbol:SNN semapv:UnspecifiedMatching OMIM:603032 SNN skos:exactMatch ncbigene:8303 semapv:UnspecifiedMatching -OMIM:603033 COLQ skos:exactMatch hgnc:COLQ semapv:UnspecifiedMatching +OMIM:603033 COLQ skos:exactMatch hgnc.symbol:2226 semapv:UnspecifiedMatching +OMIM:603033 COLQ skos:exactMatch hgnc.symbol:COLQ semapv:UnspecifiedMatching OMIM:603033 COLQ skos:exactMatch ncbigene:8292 semapv:UnspecifiedMatching -OMIM:603035 IL16 skos:exactMatch hgnc:IL16 semapv:UnspecifiedMatching +OMIM:603035 IL16 skos:exactMatch hgnc.symbol:5980 semapv:UnspecifiedMatching +OMIM:603035 IL16 skos:exactMatch hgnc.symbol:IL16 semapv:UnspecifiedMatching OMIM:603035 IL16 skos:exactMatch ncbigene:3603 semapv:UnspecifiedMatching -OMIM:603037 LEFTY1 skos:exactMatch hgnc:LEFTY1 semapv:UnspecifiedMatching +OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:6552 semapv:UnspecifiedMatching +OMIM:603037 LEFTY1 skos:exactMatch hgnc.symbol:LEFTY1 semapv:UnspecifiedMatching OMIM:603037 LEFTY1 skos:exactMatch ncbigene:10637 semapv:UnspecifiedMatching -OMIM:603038 SPAG4 skos:exactMatch hgnc:SPAG4 semapv:UnspecifiedMatching +OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:11214 semapv:UnspecifiedMatching +OMIM:603038 SPAG4 skos:exactMatch hgnc.symbol:SPAG4 semapv:UnspecifiedMatching OMIM:603038 SPAG4 skos:exactMatch ncbigene:6676 semapv:UnspecifiedMatching -OMIM:603039 MNT skos:exactMatch hgnc:MNT semapv:UnspecifiedMatching +OMIM:603039 MNT skos:exactMatch hgnc.symbol:7188 semapv:UnspecifiedMatching +OMIM:603039 MNT skos:exactMatch hgnc.symbol:MNT semapv:UnspecifiedMatching OMIM:603039 MNT skos:exactMatch ncbigene:4335 semapv:UnspecifiedMatching +OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C4551995 semapv:UnspecifiedMatching -OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch orphanet.ordo:298 semapv:UnspecifiedMatching -OMIM:603042 SUMO2 skos:exactMatch hgnc:SUMO2 semapv:UnspecifiedMatching +OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:11125 semapv:UnspecifiedMatching +OMIM:603042 SUMO2 skos:exactMatch hgnc.symbol:SUMO2 semapv:UnspecifiedMatching OMIM:603042 SUMO2 skos:exactMatch ncbigene:6613 semapv:UnspecifiedMatching -OMIM:603043 NSMAF skos:exactMatch hgnc:NSMAF semapv:UnspecifiedMatching +OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:8017 semapv:UnspecifiedMatching +OMIM:603043 NSMAF skos:exactMatch hgnc.symbol:NSMAF semapv:UnspecifiedMatching OMIM:603043 NSMAF skos:exactMatch ncbigene:8439 semapv:UnspecifiedMatching -OMIM:603044 PLAGL1 skos:exactMatch hgnc:PLAGL1 semapv:UnspecifiedMatching +OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:9046 semapv:UnspecifiedMatching +OMIM:603044 PLAGL1 skos:exactMatch hgnc.symbol:PLAGL1 semapv:UnspecifiedMatching OMIM:603044 PLAGL1 skos:exactMatch ncbigene:5325 semapv:UnspecifiedMatching -OMIM:603046 RNF139 skos:exactMatch hgnc:RNF139 semapv:UnspecifiedMatching +OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:17023 semapv:UnspecifiedMatching +OMIM:603046 RNF139 skos:exactMatch hgnc.symbol:RNF139 semapv:UnspecifiedMatching OMIM:603046 RNF139 skos:exactMatch ncbigene:11236 semapv:UnspecifiedMatching -OMIM:603048 GPAA1 skos:exactMatch hgnc:GPAA1 semapv:UnspecifiedMatching +OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:4446 semapv:UnspecifiedMatching +OMIM:603048 GPAA1 skos:exactMatch hgnc.symbol:GPAA1 semapv:UnspecifiedMatching OMIM:603048 GPAA1 skos:exactMatch ncbigene:8733 semapv:UnspecifiedMatching -OMIM:603049 TXNL1 skos:exactMatch hgnc:TXNL1 semapv:UnspecifiedMatching +OMIM:603049 TXNL1 skos:exactMatch hgnc.symbol:12436 semapv:UnspecifiedMatching +OMIM:603049 TXNL1 skos:exactMatch hgnc.symbol:TXNL1 semapv:UnspecifiedMatching OMIM:603049 TXNL1 skos:exactMatch ncbigene:9352 semapv:UnspecifiedMatching -OMIM:603050 ABI1 skos:exactMatch hgnc:ABI1 semapv:UnspecifiedMatching +OMIM:603050 ABI1 skos:exactMatch hgnc.symbol:11320 semapv:UnspecifiedMatching +OMIM:603050 ABI1 skos:exactMatch hgnc.symbol:ABI1 semapv:UnspecifiedMatching OMIM:603050 ABI1 skos:exactMatch ncbigene:10006 semapv:UnspecifiedMatching -OMIM:603051 AGPS skos:exactMatch hgnc:AGPS semapv:UnspecifiedMatching +OMIM:603051 AGPS skos:exactMatch hgnc.symbol:327 semapv:UnspecifiedMatching +OMIM:603051 AGPS skos:exactMatch hgnc.symbol:AGPS semapv:UnspecifiedMatching OMIM:603051 AGPS skos:exactMatch ncbigene:8540 semapv:UnspecifiedMatching -OMIM:603052 CPSF4 skos:exactMatch hgnc:CPSF4 semapv:UnspecifiedMatching +OMIM:603052 CPSF4 skos:exactMatch hgnc.symbol:2327 semapv:UnspecifiedMatching +OMIM:603052 CPSF4 skos:exactMatch hgnc.symbol:CPSF4 semapv:UnspecifiedMatching OMIM:603052 CPSF4 skos:exactMatch ncbigene:10898 semapv:UnspecifiedMatching -OMIM:603053 HAT1 skos:exactMatch hgnc:HAT1 semapv:UnspecifiedMatching +OMIM:603053 HAT1 skos:exactMatch hgnc.symbol:4821 semapv:UnspecifiedMatching +OMIM:603053 HAT1 skos:exactMatch hgnc.symbol:HAT1 semapv:UnspecifiedMatching OMIM:603053 HAT1 skos:exactMatch ncbigene:8520 semapv:UnspecifiedMatching -OMIM:603054 GREM1 skos:exactMatch hgnc:GREM1 semapv:UnspecifiedMatching +OMIM:603054 GREM1 skos:exactMatch hgnc.symbol:2001 semapv:UnspecifiedMatching +OMIM:603054 GREM1 skos:exactMatch hgnc.symbol:GREM1 semapv:UnspecifiedMatching OMIM:603054 GREM1 skos:exactMatch ncbigene:26585 semapv:UnspecifiedMatching -OMIM:603055 SKIIP skos:exactMatch hgnc:SNW1 semapv:UnspecifiedMatching +OMIM:603055 SKIIP skos:exactMatch hgnc.symbol:16696 semapv:UnspecifiedMatching +OMIM:603055 SKIIP skos:exactMatch hgnc.symbol:SNW1 semapv:UnspecifiedMatching OMIM:603055 SKIIP skos:exactMatch ncbigene:22938 semapv:UnspecifiedMatching -OMIM:603056 ORC4 skos:exactMatch hgnc:ORC4 semapv:UnspecifiedMatching +OMIM:603056 ORC4 skos:exactMatch hgnc.symbol:8490 semapv:UnspecifiedMatching +OMIM:603056 ORC4 skos:exactMatch hgnc.symbol:ORC4 semapv:UnspecifiedMatching OMIM:603056 ORC4 skos:exactMatch ncbigene:5000 semapv:UnspecifiedMatching -OMIM:603057 DCHS1 skos:exactMatch hgnc:DCHS1 semapv:UnspecifiedMatching +OMIM:603057 DCHS1 skos:exactMatch hgnc.symbol:13681 semapv:UnspecifiedMatching +OMIM:603057 DCHS1 skos:exactMatch hgnc.symbol:DCHS1 semapv:UnspecifiedMatching OMIM:603057 DCHS1 skos:exactMatch ncbigene:8642 semapv:UnspecifiedMatching -OMIM:603058 PCDHGB4 skos:exactMatch hgnc:PCDHGB4 semapv:UnspecifiedMatching +OMIM:603058 PCDHGB4 skos:exactMatch hgnc.symbol:8711 semapv:UnspecifiedMatching +OMIM:603058 PCDHGB4 skos:exactMatch hgnc.symbol:PCDHGB4 semapv:UnspecifiedMatching OMIM:603058 PCDHGB4 skos:exactMatch ncbigene:8641 semapv:UnspecifiedMatching -OMIM:603059 PCDHGA12 skos:exactMatch hgnc:PCDHGA12 semapv:UnspecifiedMatching +OMIM:603059 PCDHGA12 skos:exactMatch hgnc.symbol:8699 semapv:UnspecifiedMatching +OMIM:603059 PCDHGA12 skos:exactMatch hgnc.symbol:PCDHGA12 semapv:UnspecifiedMatching OMIM:603059 PCDHGA12 skos:exactMatch ncbigene:26025 semapv:UnspecifiedMatching -OMIM:603060 KIF1C skos:exactMatch hgnc:KIF1C semapv:UnspecifiedMatching +OMIM:603060 KIF1C skos:exactMatch hgnc.symbol:6317 semapv:UnspecifiedMatching +OMIM:603060 KIF1C skos:exactMatch hgnc.symbol:KIF1C semapv:UnspecifiedMatching OMIM:603060 KIF1C skos:exactMatch ncbigene:10749 semapv:UnspecifiedMatching -OMIM:603061 ENSA skos:exactMatch hgnc:ENSA semapv:UnspecifiedMatching +OMIM:603061 ENSA skos:exactMatch hgnc.symbol:3360 semapv:UnspecifiedMatching +OMIM:603061 ENSA skos:exactMatch hgnc.symbol:ENSA semapv:UnspecifiedMatching OMIM:603061 ENSA skos:exactMatch ncbigene:2029 semapv:UnspecifiedMatching -OMIM:603062 TGOLN2 skos:exactMatch hgnc:TGOLN2 semapv:UnspecifiedMatching +OMIM:603062 TGOLN2 skos:exactMatch hgnc.symbol:15450 semapv:UnspecifiedMatching +OMIM:603062 TGOLN2 skos:exactMatch hgnc.symbol:TGOLN2 semapv:UnspecifiedMatching OMIM:603062 TGOLN2 skos:exactMatch ncbigene:10618 semapv:UnspecifiedMatching -OMIM:603063 BDH1 skos:exactMatch hgnc:BDH1 semapv:UnspecifiedMatching +OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:1027 semapv:UnspecifiedMatching +OMIM:603063 BDH1 skos:exactMatch hgnc.symbol:BDH1 semapv:UnspecifiedMatching OMIM:603063 BDH1 skos:exactMatch ncbigene:622 semapv:UnspecifiedMatching -OMIM:603064 UGT2B11 skos:exactMatch hgnc:UGT2B11 semapv:UnspecifiedMatching +OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:12545 semapv:UnspecifiedMatching +OMIM:603064 UGT2B11 skos:exactMatch hgnc.symbol:UGT2B11 semapv:UnspecifiedMatching OMIM:603064 UGT2B11 skos:exactMatch ncbigene:10720 semapv:UnspecifiedMatching -OMIM:603065 NR1I2 skos:exactMatch hgnc:NR1I2 semapv:UnspecifiedMatching +OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:7968 semapv:UnspecifiedMatching +OMIM:603065 NR1I2 skos:exactMatch hgnc.symbol:NR1I2 semapv:UnspecifiedMatching OMIM:603065 NR1I2 skos:exactMatch ncbigene:8856 semapv:UnspecifiedMatching -OMIM:603066 PLOD3 skos:exactMatch hgnc:PLOD3 semapv:UnspecifiedMatching +OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:9083 semapv:UnspecifiedMatching +OMIM:603066 PLOD3 skos:exactMatch hgnc.symbol:PLOD3 semapv:UnspecifiedMatching OMIM:603066 PLOD3 skos:exactMatch ncbigene:8985 semapv:UnspecifiedMatching -OMIM:603068 DUSP2 skos:exactMatch hgnc:DUSP2 semapv:UnspecifiedMatching +OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:3068 semapv:UnspecifiedMatching +OMIM:603068 DUSP2 skos:exactMatch hgnc.symbol:DUSP2 semapv:UnspecifiedMatching OMIM:603068 DUSP2 skos:exactMatch ncbigene:1844 semapv:UnspecifiedMatching -OMIM:603069 DUSP5 skos:exactMatch hgnc:DUSP5 semapv:UnspecifiedMatching +OMIM:603069 DUSP5 skos:exactMatch hgnc.symbol:3071 semapv:UnspecifiedMatching +OMIM:603069 DUSP5 skos:exactMatch hgnc.symbol:DUSP5 semapv:UnspecifiedMatching OMIM:603069 DUSP5 skos:exactMatch ncbigene:1847 semapv:UnspecifiedMatching -OMIM:603070 RAD51AP1 skos:exactMatch hgnc:RAD51AP1 semapv:UnspecifiedMatching +OMIM:603070 RAD51AP1 skos:exactMatch hgnc.symbol:16956 semapv:UnspecifiedMatching +OMIM:603070 RAD51AP1 skos:exactMatch hgnc.symbol:RAD51AP1 semapv:UnspecifiedMatching OMIM:603070 RAD51AP1 skos:exactMatch ncbigene:10635 semapv:UnspecifiedMatching -OMIM:603071 GPR17 skos:exactMatch hgnc:GPR17 semapv:UnspecifiedMatching +OMIM:603071 GPR17 skos:exactMatch hgnc.symbol:4471 semapv:UnspecifiedMatching +OMIM:603071 GPR17 skos:exactMatch hgnc.symbol:GPR17 semapv:UnspecifiedMatching OMIM:603071 GPR17 skos:exactMatch ncbigene:2840 semapv:UnspecifiedMatching -OMIM:603072 AURKA skos:exactMatch hgnc:AURKA semapv:UnspecifiedMatching +OMIM:603072 AURKA skos:exactMatch hgnc.symbol:11393 semapv:UnspecifiedMatching +OMIM:603072 AURKA skos:exactMatch hgnc.symbol:AURKA semapv:UnspecifiedMatching OMIM:603072 AURKA skos:exactMatch ncbigene:6790 semapv:UnspecifiedMatching -OMIM:603073 ZIC2 skos:exactMatch hgnc:ZIC2 semapv:UnspecifiedMatching +OMIM:603073 ZIC2 skos:exactMatch hgnc.symbol:12873 semapv:UnspecifiedMatching +OMIM:603073 ZIC2 skos:exactMatch hgnc.symbol:ZIC2 semapv:UnspecifiedMatching OMIM:603073 ZIC2 skos:exactMatch ncbigene:7546 semapv:UnspecifiedMatching -OMIM:603074 PAFAH1B3 skos:exactMatch hgnc:PAFAH1B3 semapv:UnspecifiedMatching +OMIM:603074 PAFAH1B3 skos:exactMatch hgnc.symbol:8576 semapv:UnspecifiedMatching +OMIM:603074 PAFAH1B3 skos:exactMatch hgnc.symbol:PAFAH1B3 semapv:UnspecifiedMatching OMIM:603074 PAFAH1B3 skos:exactMatch ncbigene:5050 semapv:UnspecifiedMatching -OMIM:603076 ABCG1 skos:exactMatch hgnc:ABCG1 semapv:UnspecifiedMatching +OMIM:603076 ABCG1 skos:exactMatch hgnc.symbol:73 semapv:UnspecifiedMatching +OMIM:603076 ABCG1 skos:exactMatch hgnc.symbol:ABCG1 semapv:UnspecifiedMatching OMIM:603076 ABCG1 skos:exactMatch ncbigene:9619 semapv:UnspecifiedMatching -OMIM:603078 CHEK1 skos:exactMatch hgnc:CHEK1 semapv:UnspecifiedMatching +OMIM:603078 CHEK1 skos:exactMatch hgnc.symbol:1925 semapv:UnspecifiedMatching +OMIM:603078 CHEK1 skos:exactMatch hgnc.symbol:CHEK1 semapv:UnspecifiedMatching OMIM:603078 CHEK1 skos:exactMatch ncbigene:1111 semapv:UnspecifiedMatching -OMIM:603079 CBX4 skos:exactMatch hgnc:CBX4 semapv:UnspecifiedMatching +OMIM:603079 CBX4 skos:exactMatch hgnc.symbol:1554 semapv:UnspecifiedMatching +OMIM:603079 CBX4 skos:exactMatch hgnc.symbol:CBX4 semapv:UnspecifiedMatching OMIM:603079 CBX4 skos:exactMatch ncbigene:8535 semapv:UnspecifiedMatching -OMIM:603080 SLC6A12 skos:exactMatch hgnc:SLC6A12 semapv:UnspecifiedMatching +OMIM:603080 SLC6A12 skos:exactMatch hgnc.symbol:11045 semapv:UnspecifiedMatching +OMIM:603080 SLC6A12 skos:exactMatch hgnc.symbol:SLC6A12 semapv:UnspecifiedMatching OMIM:603080 SLC6A12 skos:exactMatch ncbigene:6539 semapv:UnspecifiedMatching -OMIM:603081 ADPRH skos:exactMatch hgnc:ADPRH semapv:UnspecifiedMatching +OMIM:603081 ADPRH skos:exactMatch hgnc.symbol:269 semapv:UnspecifiedMatching +OMIM:603081 ADPRH skos:exactMatch hgnc.symbol:ADPRH semapv:UnspecifiedMatching OMIM:603081 ADPRH skos:exactMatch ncbigene:141 semapv:UnspecifiedMatching -OMIM:603083 HNRNPL skos:exactMatch hgnc:HNRNPL semapv:UnspecifiedMatching +OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:5045 semapv:UnspecifiedMatching +OMIM:603083 HNRNPL skos:exactMatch hgnc.symbol:HNRNPL semapv:UnspecifiedMatching OMIM:603083 HNRNPL skos:exactMatch ncbigene:3191 semapv:UnspecifiedMatching -OMIM:603084 DARS1 skos:exactMatch hgnc:DARS1 semapv:UnspecifiedMatching +OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:2678 semapv:UnspecifiedMatching +OMIM:603084 DARS1 skos:exactMatch hgnc.symbol:DARS1 semapv:UnspecifiedMatching OMIM:603084 DARS1 skos:exactMatch ncbigene:1615 semapv:UnspecifiedMatching -OMIM:603085 SLC31A1 skos:exactMatch hgnc:SLC31A1 semapv:UnspecifiedMatching +OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:11016 semapv:UnspecifiedMatching +OMIM:603085 SLC31A1 skos:exactMatch hgnc.symbol:SLC31A1 semapv:UnspecifiedMatching OMIM:603085 SLC31A1 skos:exactMatch ncbigene:1317 semapv:UnspecifiedMatching -OMIM:603086 ART3 skos:exactMatch hgnc:ART3 semapv:UnspecifiedMatching +OMIM:603086 ART3 skos:exactMatch hgnc.symbol:725 semapv:UnspecifiedMatching +OMIM:603086 ART3 skos:exactMatch hgnc.symbol:ART3 semapv:UnspecifiedMatching OMIM:603086 ART3 skos:exactMatch ncbigene:419 semapv:UnspecifiedMatching -OMIM:603088 SLC31A2 skos:exactMatch hgnc:SLC31A2 semapv:UnspecifiedMatching +OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:11017 semapv:UnspecifiedMatching +OMIM:603088 SLC31A2 skos:exactMatch hgnc.symbol:SLC31A2 semapv:UnspecifiedMatching OMIM:603088 SLC31A2 skos:exactMatch ncbigene:1318 semapv:UnspecifiedMatching OMIM:603089 BAP1 skos:exactMatch UMLS:C1332380 semapv:UnspecifiedMatching OMIM:603089 BAP1 skos:exactMatch UMLS:C3280492 semapv:UnspecifiedMatching -OMIM:603089 BAP1 skos:exactMatch hgnc:BAP1 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:950 semapv:UnspecifiedMatching +OMIM:603089 BAP1 skos:exactMatch hgnc.symbol:BAP1 semapv:UnspecifiedMatching OMIM:603089 BAP1 skos:exactMatch ncbigene:8314 semapv:UnspecifiedMatching -OMIM:603090 UCHL3 skos:exactMatch hgnc:UCHL3 semapv:UnspecifiedMatching +OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:12515 semapv:UnspecifiedMatching +OMIM:603090 UCHL3 skos:exactMatch hgnc.symbol:UCHL3 semapv:UnspecifiedMatching OMIM:603090 UCHL3 skos:exactMatch ncbigene:7347 semapv:UnspecifiedMatching -OMIM:603091 USP12 skos:exactMatch hgnc:USP12 semapv:UnspecifiedMatching +OMIM:603091 USP12 skos:exactMatch hgnc.symbol:20485 semapv:UnspecifiedMatching +OMIM:603091 USP12 skos:exactMatch hgnc.symbol:USP12 semapv:UnspecifiedMatching OMIM:603091 USP12 skos:exactMatch ncbigene:219333 semapv:UnspecifiedMatching -OMIM:603092 DUSP11 skos:exactMatch hgnc:DUSP11 semapv:UnspecifiedMatching +OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:3066 semapv:UnspecifiedMatching +OMIM:603092 DUSP11 skos:exactMatch hgnc.symbol:DUSP11 semapv:UnspecifiedMatching OMIM:603092 DUSP11 skos:exactMatch ncbigene:8446 semapv:UnspecifiedMatching -OMIM:603093 B3GALT1 skos:exactMatch hgnc:B3GALT1 semapv:UnspecifiedMatching +OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:916 semapv:UnspecifiedMatching +OMIM:603093 B3GALT1 skos:exactMatch hgnc.symbol:B3GALT1 semapv:UnspecifiedMatching OMIM:603093 B3GALT1 skos:exactMatch ncbigene:8708 semapv:UnspecifiedMatching -OMIM:603094 B3GALNT1 skos:exactMatch hgnc:B3GALNT1 semapv:UnspecifiedMatching +OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:918 semapv:UnspecifiedMatching +OMIM:603094 B3GALNT1 skos:exactMatch hgnc.symbol:B3GALNT1 semapv:UnspecifiedMatching OMIM:603094 B3GALNT1 skos:exactMatch ncbigene:8706 semapv:UnspecifiedMatching -OMIM:603095 B3GALT4 skos:exactMatch hgnc:B3GALT4 semapv:UnspecifiedMatching +OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:919 semapv:UnspecifiedMatching +OMIM:603095 B3GALT4 skos:exactMatch hgnc.symbol:B3GALT4 semapv:UnspecifiedMatching OMIM:603095 B3GALT4 skos:exactMatch ncbigene:8705 semapv:UnspecifiedMatching -OMIM:603097 ATP6V1C1 skos:exactMatch hgnc:ATP6V1C1 semapv:UnspecifiedMatching +OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:856 semapv:UnspecifiedMatching +OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:ATP6V1C1 semapv:UnspecifiedMatching OMIM:603097 ATP6V1C1 skos:exactMatch ncbigene:528 semapv:UnspecifiedMatching -OMIM:603099 AGPAT1 skos:exactMatch hgnc:AGPAT1 semapv:UnspecifiedMatching +OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:324 semapv:UnspecifiedMatching +OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:AGPAT1 semapv:UnspecifiedMatching OMIM:603099 AGPAT1 skos:exactMatch ncbigene:10554 semapv:UnspecifiedMatching -OMIM:603100 AGPAT2 skos:exactMatch hgnc:AGPAT2 semapv:UnspecifiedMatching +OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:325 semapv:UnspecifiedMatching +OMIM:603100 AGPAT2 skos:exactMatch hgnc.symbol:AGPAT2 semapv:UnspecifiedMatching OMIM:603100 AGPAT2 skos:exactMatch ncbigene:10555 semapv:UnspecifiedMatching -OMIM:603101 CPB2 skos:exactMatch hgnc:CPB2 semapv:UnspecifiedMatching +OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:2300 semapv:UnspecifiedMatching +OMIM:603101 CPB2 skos:exactMatch hgnc.symbol:CPB2 semapv:UnspecifiedMatching OMIM:603101 CPB2 skos:exactMatch ncbigene:1361 semapv:UnspecifiedMatching -OMIM:603102 CPD skos:exactMatch hgnc:CPD semapv:UnspecifiedMatching +OMIM:603102 CPD skos:exactMatch hgnc.symbol:2301 semapv:UnspecifiedMatching +OMIM:603102 CPD skos:exactMatch hgnc.symbol:CPD semapv:UnspecifiedMatching OMIM:603102 CPD skos:exactMatch ncbigene:1362 semapv:UnspecifiedMatching -OMIM:603103 CPN1 skos:exactMatch hgnc:CPN1 semapv:UnspecifiedMatching +OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:2312 semapv:UnspecifiedMatching +OMIM:603103 CPN1 skos:exactMatch hgnc.symbol:CPN1 semapv:UnspecifiedMatching OMIM:603103 CPN1 skos:exactMatch ncbigene:1369 semapv:UnspecifiedMatching -OMIM:603104 CPN2 skos:exactMatch hgnc:CPN2 semapv:UnspecifiedMatching +OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:2313 semapv:UnspecifiedMatching +OMIM:603104 CPN2 skos:exactMatch hgnc.symbol:CPN2 semapv:UnspecifiedMatching OMIM:603104 CPN2 skos:exactMatch ncbigene:1370 semapv:UnspecifiedMatching -OMIM:603105 CPZ skos:exactMatch hgnc:CPZ semapv:UnspecifiedMatching +OMIM:603105 CPZ skos:exactMatch hgnc.symbol:2333 semapv:UnspecifiedMatching +OMIM:603105 CPZ skos:exactMatch hgnc.symbol:CPZ semapv:UnspecifiedMatching OMIM:603105 CPZ skos:exactMatch ncbigene:8532 semapv:UnspecifiedMatching -OMIM:603106 NNAT skos:exactMatch hgnc:NNAT semapv:UnspecifiedMatching +OMIM:603106 NNAT skos:exactMatch hgnc.symbol:7860 semapv:UnspecifiedMatching +OMIM:603106 NNAT skos:exactMatch hgnc.symbol:NNAT semapv:UnspecifiedMatching OMIM:603106 NNAT skos:exactMatch ncbigene:4826 semapv:UnspecifiedMatching -OMIM:603107 TCF20 skos:exactMatch hgnc:TCF20 semapv:UnspecifiedMatching +OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:11631 semapv:UnspecifiedMatching +OMIM:603107 TCF20 skos:exactMatch hgnc.symbol:TCF20 semapv:UnspecifiedMatching OMIM:603107 TCF20 skos:exactMatch ncbigene:6942 semapv:UnspecifiedMatching -OMIM:603108 MAPRE1 skos:exactMatch hgnc:MAPRE1 semapv:UnspecifiedMatching +OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:6890 semapv:UnspecifiedMatching +OMIM:603108 MAPRE1 skos:exactMatch hgnc.symbol:MAPRE1 semapv:UnspecifiedMatching OMIM:603108 MAPRE1 skos:exactMatch ncbigene:22919 semapv:UnspecifiedMatching OMIM:603109 SMAD3 skos:exactMatch UMLS:C0919432 semapv:UnspecifiedMatching OMIM:603109 SMAD3 skos:exactMatch UMLS:C3151087 semapv:UnspecifiedMatching -OMIM:603109 SMAD3 skos:exactMatch hgnc:SMAD3 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:6769 semapv:UnspecifiedMatching +OMIM:603109 SMAD3 skos:exactMatch hgnc.symbol:SMAD3 semapv:UnspecifiedMatching OMIM:603109 SMAD3 skos:exactMatch ncbigene:4088 semapv:UnspecifiedMatching OMIM:603110 SMAD5 skos:exactMatch UMLS:C1416963 semapv:UnspecifiedMatching -OMIM:603110 SMAD5 skos:exactMatch hgnc:SMAD5 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:6771 semapv:UnspecifiedMatching +OMIM:603110 SMAD5 skos:exactMatch hgnc.symbol:SMAD5 semapv:UnspecifiedMatching OMIM:603110 SMAD5 skos:exactMatch ncbigene:4090 semapv:UnspecifiedMatching -OMIM:603111 SMARCE1 skos:exactMatch hgnc:SMARCE1 semapv:UnspecifiedMatching +OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:11109 semapv:UnspecifiedMatching +OMIM:603111 SMARCE1 skos:exactMatch hgnc.symbol:SMARCE1 semapv:UnspecifiedMatching OMIM:603111 SMARCE1 skos:exactMatch ncbigene:6605 semapv:UnspecifiedMatching -OMIM:603112 S100A12 skos:exactMatch hgnc:S100A12 semapv:UnspecifiedMatching +OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:10489 semapv:UnspecifiedMatching +OMIM:603112 S100A12 skos:exactMatch hgnc.symbol:S100A12 semapv:UnspecifiedMatching OMIM:603112 S100A12 skos:exactMatch ncbigene:6283 semapv:UnspecifiedMatching -OMIM:603113 PPP2R1B skos:exactMatch hgnc:PPP2R1B semapv:UnspecifiedMatching +OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:9303 semapv:UnspecifiedMatching +OMIM:603113 PPP2R1B skos:exactMatch hgnc.symbol:PPP2R1B semapv:UnspecifiedMatching OMIM:603113 PPP2R1B skos:exactMatch ncbigene:5519 semapv:UnspecifiedMatching -OMIM:603114 S100A11 skos:exactMatch hgnc:S100A11 semapv:UnspecifiedMatching +OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:10488 semapv:UnspecifiedMatching +OMIM:603114 S100A11 skos:exactMatch hgnc.symbol:S100A11 semapv:UnspecifiedMatching OMIM:603114 S100A11 skos:exactMatch ncbigene:6282 semapv:UnspecifiedMatching OMIM:603115 DHX9 skos:exactMatch UMLS:C1413966 semapv:UnspecifiedMatching -OMIM:603115 DHX9 skos:exactMatch hgnc:DHX9 semapv:UnspecifiedMatching +OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:2750 semapv:UnspecifiedMatching +OMIM:603115 DHX9 skos:exactMatch hgnc.symbol:DHX9 semapv:UnspecifiedMatching OMIM:603115 DHX9 skos:exactMatch ncbigene:1660 semapv:UnspecifiedMatching -OMIM:603118 CDH16 skos:exactMatch hgnc:CDH16 semapv:UnspecifiedMatching +OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:1755 semapv:UnspecifiedMatching +OMIM:603118 CDH16 skos:exactMatch hgnc.symbol:CDH16 semapv:UnspecifiedMatching OMIM:603118 CDH16 skos:exactMatch ncbigene:1014 semapv:UnspecifiedMatching -OMIM:603120 QSOX1 skos:exactMatch hgnc:QSOX1 semapv:UnspecifiedMatching +OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:9756 semapv:UnspecifiedMatching +OMIM:603120 QSOX1 skos:exactMatch hgnc.symbol:QSOX1 semapv:UnspecifiedMatching OMIM:603120 QSOX1 skos:exactMatch ncbigene:5768 semapv:UnspecifiedMatching -OMIM:603122 DOCK2 skos:exactMatch hgnc:DOCK2 semapv:UnspecifiedMatching +OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:2988 semapv:UnspecifiedMatching +OMIM:603122 DOCK2 skos:exactMatch hgnc.symbol:DOCK2 semapv:UnspecifiedMatching OMIM:603122 DOCK2 skos:exactMatch ncbigene:1794 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch UMLS:C1414129 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching -OMIM:603123 DOCK3 skos:exactMatch hgnc:DOCK3 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:2989 semapv:UnspecifiedMatching +OMIM:603123 DOCK3 skos:exactMatch hgnc.symbol:DOCK3 semapv:UnspecifiedMatching OMIM:603123 DOCK3 skos:exactMatch ncbigene:1795 semapv:UnspecifiedMatching -OMIM:603124 UBE2G2 skos:exactMatch hgnc:UBE2G2 semapv:UnspecifiedMatching +OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:12483 semapv:UnspecifiedMatching +OMIM:603124 UBE2G2 skos:exactMatch hgnc.symbol:UBE2G2 semapv:UnspecifiedMatching OMIM:603124 UBE2G2 skos:exactMatch ncbigene:7327 semapv:UnspecifiedMatching -OMIM:603125 TPST1 skos:exactMatch hgnc:TPST1 semapv:UnspecifiedMatching +OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:12020 semapv:UnspecifiedMatching +OMIM:603125 TPST1 skos:exactMatch hgnc.symbol:TPST1 semapv:UnspecifiedMatching OMIM:603125 TPST1 skos:exactMatch ncbigene:8460 semapv:UnspecifiedMatching -OMIM:603126 TPST2 skos:exactMatch hgnc:TPST2 semapv:UnspecifiedMatching +OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:12021 semapv:UnspecifiedMatching +OMIM:603126 TPST2 skos:exactMatch hgnc.symbol:TPST2 semapv:UnspecifiedMatching OMIM:603126 TPST2 skos:exactMatch ncbigene:8459 semapv:UnspecifiedMatching -OMIM:603127 GAS7 skos:exactMatch hgnc:GAS7 semapv:UnspecifiedMatching +OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:4169 semapv:UnspecifiedMatching +OMIM:603127 GAS7 skos:exactMatch hgnc.symbol:GAS7 semapv:UnspecifiedMatching OMIM:603127 GAS7 skos:exactMatch ncbigene:8522 semapv:UnspecifiedMatching OMIM:603128 SIM1 skos:exactMatch UMLS:C1420067 semapv:UnspecifiedMatching -OMIM:603128 SIM1 skos:exactMatch hgnc:SIM1 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:10882 semapv:UnspecifiedMatching +OMIM:603128 SIM1 skos:exactMatch hgnc.symbol:SIM1 semapv:UnspecifiedMatching OMIM:603128 SIM1 skos:exactMatch ncbigene:6492 semapv:UnspecifiedMatching -OMIM:603129 LMO4 skos:exactMatch hgnc:LMO4 semapv:UnspecifiedMatching +OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:6644 semapv:UnspecifiedMatching +OMIM:603129 LMO4 skos:exactMatch hgnc.symbol:LMO4 semapv:UnspecifiedMatching OMIM:603129 LMO4 skos:exactMatch ncbigene:8543 semapv:UnspecifiedMatching -OMIM:603130 ATRN skos:exactMatch hgnc:ATRN semapv:UnspecifiedMatching +OMIM:603130 ATRN skos:exactMatch hgnc.symbol:885 semapv:UnspecifiedMatching +OMIM:603130 ATRN skos:exactMatch hgnc.symbol:ATRN semapv:UnspecifiedMatching OMIM:603130 ATRN skos:exactMatch ncbigene:8455 semapv:UnspecifiedMatching -OMIM:603131 PMPCB skos:exactMatch hgnc:PMPCB semapv:UnspecifiedMatching +OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:9119 semapv:UnspecifiedMatching +OMIM:603131 PMPCB skos:exactMatch hgnc.symbol:PMPCB semapv:UnspecifiedMatching OMIM:603131 PMPCB skos:exactMatch ncbigene:9512 semapv:UnspecifiedMatching -OMIM:603132 ZNF189 skos:exactMatch hgnc:ZNF189 semapv:UnspecifiedMatching +OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:12980 semapv:UnspecifiedMatching +OMIM:603132 ZNF189 skos:exactMatch hgnc.symbol:ZNF189 semapv:UnspecifiedMatching OMIM:603132 ZNF189 skos:exactMatch ncbigene:7743 semapv:UnspecifiedMatching -OMIM:603134 CUL1 skos:exactMatch hgnc:CUL1 semapv:UnspecifiedMatching +OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:2551 semapv:UnspecifiedMatching +OMIM:603134 CUL1 skos:exactMatch hgnc.symbol:CUL1 semapv:UnspecifiedMatching OMIM:603134 CUL1 skos:exactMatch ncbigene:8454 semapv:UnspecifiedMatching -OMIM:603135 CUL2 skos:exactMatch hgnc:CUL2 semapv:UnspecifiedMatching +OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:2552 semapv:UnspecifiedMatching +OMIM:603135 CUL2 skos:exactMatch hgnc.symbol:CUL2 semapv:UnspecifiedMatching OMIM:603135 CUL2 skos:exactMatch ncbigene:8453 semapv:UnspecifiedMatching OMIM:603136 CUL3 skos:exactMatch UMLS:C1332811 semapv:UnspecifiedMatching OMIM:603136 CUL3 skos:exactMatch UMLS:C3469606 semapv:UnspecifiedMatching -OMIM:603136 CUL3 skos:exactMatch hgnc:CUL3 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:2553 semapv:UnspecifiedMatching +OMIM:603136 CUL3 skos:exactMatch hgnc.symbol:CUL3 semapv:UnspecifiedMatching OMIM:603136 CUL3 skos:exactMatch ncbigene:8452 semapv:UnspecifiedMatching -OMIM:603137 CUL4A skos:exactMatch hgnc:CUL4A semapv:UnspecifiedMatching +OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:2554 semapv:UnspecifiedMatching +OMIM:603137 CUL4A skos:exactMatch hgnc.symbol:CUL4A semapv:UnspecifiedMatching OMIM:603137 CUL4A skos:exactMatch ncbigene:8451 semapv:UnspecifiedMatching -OMIM:603139 RAD17 skos:exactMatch hgnc:RAD17 semapv:UnspecifiedMatching +OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:9807 semapv:UnspecifiedMatching +OMIM:603139 RAD17 skos:exactMatch hgnc.symbol:RAD17 semapv:UnspecifiedMatching OMIM:603139 RAD17 skos:exactMatch ncbigene:5884 semapv:UnspecifiedMatching -OMIM:603140 PIP4K2A skos:exactMatch hgnc:PIP4K2A semapv:UnspecifiedMatching +OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:8997 semapv:UnspecifiedMatching +OMIM:603140 PIP4K2A skos:exactMatch hgnc.symbol:PIP4K2A semapv:UnspecifiedMatching OMIM:603140 PIP4K2A skos:exactMatch ncbigene:5305 semapv:UnspecifiedMatching -OMIM:603141 PPFIBP1 skos:exactMatch hgnc:PPFIBP1 semapv:UnspecifiedMatching +OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:9249 semapv:UnspecifiedMatching +OMIM:603141 PPFIBP1 skos:exactMatch hgnc.symbol:PPFIBP1 semapv:UnspecifiedMatching OMIM:603141 PPFIBP1 skos:exactMatch ncbigene:8496 semapv:UnspecifiedMatching -OMIM:603142 PPFIBP2 skos:exactMatch hgnc:PPFIBP2 semapv:UnspecifiedMatching +OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:9250 semapv:UnspecifiedMatching +OMIM:603142 PPFIBP2 skos:exactMatch hgnc.symbol:PPFIBP2 semapv:UnspecifiedMatching OMIM:603142 PPFIBP2 skos:exactMatch ncbigene:8495 semapv:UnspecifiedMatching OMIM:603143 PPFIA2 skos:exactMatch UMLS:C1418786 semapv:UnspecifiedMatching -OMIM:603143 PPFIA2 skos:exactMatch hgnc:PPFIA2 semapv:UnspecifiedMatching +OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:9246 semapv:UnspecifiedMatching +OMIM:603143 PPFIA2 skos:exactMatch hgnc.symbol:PPFIA2 semapv:UnspecifiedMatching OMIM:603143 PPFIA2 skos:exactMatch ncbigene:8499 semapv:UnspecifiedMatching -OMIM:603144 PPFIA3 skos:exactMatch hgnc:PPFIA3 semapv:UnspecifiedMatching +OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:9247 semapv:UnspecifiedMatching +OMIM:603144 PPFIA3 skos:exactMatch hgnc.symbol:PPFIA3 semapv:UnspecifiedMatching OMIM:603144 PPFIA3 skos:exactMatch ncbigene:8541 semapv:UnspecifiedMatching -OMIM:603145 PPFIA4 skos:exactMatch hgnc:PPFIA4 semapv:UnspecifiedMatching +OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:9248 semapv:UnspecifiedMatching +OMIM:603145 PPFIA4 skos:exactMatch hgnc.symbol:PPFIA4 semapv:UnspecifiedMatching OMIM:603145 PPFIA4 skos:exactMatch ncbigene:8497 semapv:UnspecifiedMatching -OMIM:603146 PSMD9 skos:exactMatch hgnc:PSMD9 semapv:UnspecifiedMatching +OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:9567 semapv:UnspecifiedMatching +OMIM:603146 PSMD9 skos:exactMatch hgnc.symbol:PSMD9 semapv:UnspecifiedMatching OMIM:603146 PSMD9 skos:exactMatch ncbigene:5715 semapv:UnspecifiedMatching +OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch Orphanet:79320 semapv:UnspecifiedMatching OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching -OMIM:603147 congenital disorder of glycosylation, iia ic skos:exactMatch orphanet.ordo:79320 semapv:UnspecifiedMatching -OMIM:603148 ATF3 skos:exactMatch hgnc:ATF3 semapv:UnspecifiedMatching +OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:785 semapv:UnspecifiedMatching +OMIM:603148 ATF3 skos:exactMatch hgnc.symbol:ATF3 semapv:UnspecifiedMatching OMIM:603148 ATF3 skos:exactMatch ncbigene:467 semapv:UnspecifiedMatching OMIM:603149 IL17A skos:exactMatch UMLS:C1825592 semapv:UnspecifiedMatching -OMIM:603149 IL17A skos:exactMatch hgnc:IL17A semapv:UnspecifiedMatching +OMIM:603149 IL17A skos:exactMatch hgnc.symbol:5981 semapv:UnspecifiedMatching +OMIM:603149 IL17A skos:exactMatch hgnc.symbol:IL17A semapv:UnspecifiedMatching OMIM:603149 IL17A skos:exactMatch ncbigene:3605 semapv:UnspecifiedMatching OMIM:603150 ATP5F1D skos:exactMatch UMLS:C1412658 semapv:UnspecifiedMatching OMIM:603150 ATP5F1D skos:exactMatch UMLS:C4748269 semapv:UnspecifiedMatching -OMIM:603150 ATP5F1D skos:exactMatch hgnc:ATP5F1D semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:837 semapv:UnspecifiedMatching +OMIM:603150 ATP5F1D skos:exactMatch hgnc.symbol:ATP5F1D semapv:UnspecifiedMatching OMIM:603150 ATP5F1D skos:exactMatch ncbigene:513 semapv:UnspecifiedMatching -OMIM:603151 SEPT7 skos:exactMatch hgnc:SEPTIN7 semapv:UnspecifiedMatching +OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:1717 semapv:UnspecifiedMatching +OMIM:603151 SEPT7 skos:exactMatch hgnc.symbol:SEPTIN7 semapv:UnspecifiedMatching OMIM:603151 SEPT7 skos:exactMatch ncbigene:989 semapv:UnspecifiedMatching OMIM:603152 ATP5PF skos:exactMatch UMLS:C1412668 semapv:UnspecifiedMatching -OMIM:603152 ATP5PF skos:exactMatch hgnc:ATP5PF semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:847 semapv:UnspecifiedMatching +OMIM:603152 ATP5PF skos:exactMatch hgnc.symbol:ATP5PF semapv:UnspecifiedMatching OMIM:603152 ATP5PF skos:exactMatch ncbigene:522 semapv:UnspecifiedMatching -OMIM:603153 RAD1 skos:exactMatch hgnc:RAD1 semapv:UnspecifiedMatching +OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:9806 semapv:UnspecifiedMatching +OMIM:603153 RAD1 skos:exactMatch hgnc.symbol:RAD1 semapv:UnspecifiedMatching OMIM:603153 RAD1 skos:exactMatch ncbigene:5810 semapv:UnspecifiedMatching -OMIM:603154 PNN skos:exactMatch hgnc:PNN semapv:UnspecifiedMatching +OMIM:603154 PNN skos:exactMatch hgnc.symbol:9162 semapv:UnspecifiedMatching +OMIM:603154 PNN skos:exactMatch hgnc.symbol:PNN semapv:UnspecifiedMatching OMIM:603154 PNN skos:exactMatch ncbigene:5411 semapv:UnspecifiedMatching -OMIM:603155 PTPN14 skos:exactMatch hgnc:PTPN14 semapv:UnspecifiedMatching +OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:9647 semapv:UnspecifiedMatching +OMIM:603155 PTPN14 skos:exactMatch hgnc.symbol:PTPN14 semapv:UnspecifiedMatching OMIM:603155 PTPN14 skos:exactMatch ncbigene:5784 semapv:UnspecifiedMatching -OMIM:603156 BPHL skos:exactMatch hgnc:BPHL semapv:UnspecifiedMatching +OMIM:603156 BPHL skos:exactMatch hgnc.symbol:1094 semapv:UnspecifiedMatching +OMIM:603156 BPHL skos:exactMatch hgnc.symbol:BPHL semapv:UnspecifiedMatching OMIM:603156 BPHL skos:exactMatch ncbigene:670 semapv:UnspecifiedMatching -OMIM:603157 PIK3R2 skos:exactMatch hgnc:PIK3R2 semapv:UnspecifiedMatching +OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:8980 semapv:UnspecifiedMatching +OMIM:603157 PIK3R2 skos:exactMatch hgnc.symbol:PIK3R2 semapv:UnspecifiedMatching OMIM:603157 PIK3R2 skos:exactMatch ncbigene:5296 semapv:UnspecifiedMatching -OMIM:603158 USP8 skos:exactMatch hgnc:USP8 semapv:UnspecifiedMatching +OMIM:603158 USP8 skos:exactMatch hgnc.symbol:12631 semapv:UnspecifiedMatching +OMIM:603158 USP8 skos:exactMatch hgnc.symbol:USP8 semapv:UnspecifiedMatching OMIM:603158 USP8 skos:exactMatch ncbigene:9101 semapv:UnspecifiedMatching -OMIM:603159 LRP3 skos:exactMatch hgnc:LRP3 semapv:UnspecifiedMatching +OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:6695 semapv:UnspecifiedMatching +OMIM:603159 LRP3 skos:exactMatch hgnc.symbol:LRP3 semapv:UnspecifiedMatching OMIM:603159 LRP3 skos:exactMatch ncbigene:4037 semapv:UnspecifiedMatching -OMIM:603160 ENTPD6 skos:exactMatch hgnc:ENTPD6 semapv:UnspecifiedMatching +OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:3368 semapv:UnspecifiedMatching +OMIM:603160 ENTPD6 skos:exactMatch hgnc.symbol:ENTPD6 semapv:UnspecifiedMatching OMIM:603160 ENTPD6 skos:exactMatch ncbigene:955 semapv:UnspecifiedMatching -OMIM:603161 ENTPD3 skos:exactMatch hgnc:ENTPD3 semapv:UnspecifiedMatching +OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:3365 semapv:UnspecifiedMatching +OMIM:603161 ENTPD3 skos:exactMatch hgnc.symbol:ENTPD3 semapv:UnspecifiedMatching OMIM:603161 ENTPD3 skos:exactMatch ncbigene:956 semapv:UnspecifiedMatching -OMIM:603162 ENTPD5 skos:exactMatch hgnc:ENTPD5 semapv:UnspecifiedMatching +OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:3367 semapv:UnspecifiedMatching +OMIM:603162 ENTPD5 skos:exactMatch hgnc.symbol:ENTPD5 semapv:UnspecifiedMatching OMIM:603162 ENTPD5 skos:exactMatch ncbigene:957 semapv:UnspecifiedMatching -OMIM:603163 SCRG1 skos:exactMatch hgnc:SCRG1 semapv:UnspecifiedMatching +OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:17036 semapv:UnspecifiedMatching +OMIM:603163 SCRG1 skos:exactMatch hgnc.symbol:SCRG1 semapv:UnspecifiedMatching OMIM:603163 SCRG1 skos:exactMatch ncbigene:11341 semapv:UnspecifiedMatching -OMIM:603164 PEX3 skos:exactMatch hgnc:PEX3 semapv:UnspecifiedMatching +OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:8858 semapv:UnspecifiedMatching +OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:PEX3 semapv:UnspecifiedMatching OMIM:603164 PEX3 skos:exactMatch ncbigene:8504 semapv:UnspecifiedMatching -OMIM:603166 MAP4K2 skos:exactMatch hgnc:MAP4K2 semapv:UnspecifiedMatching +OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:6864 semapv:UnspecifiedMatching +OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:MAP4K2 semapv:UnspecifiedMatching OMIM:603166 MAP4K2 skos:exactMatch ncbigene:5871 semapv:UnspecifiedMatching -OMIM:603167 BAD skos:exactMatch hgnc:BAD semapv:UnspecifiedMatching +OMIM:603167 BAD skos:exactMatch hgnc.symbol:936 semapv:UnspecifiedMatching +OMIM:603167 BAD skos:exactMatch hgnc.symbol:BAD semapv:UnspecifiedMatching OMIM:603167 BAD skos:exactMatch ncbigene:572 semapv:UnspecifiedMatching OMIM:603168 ULK1 skos:exactMatch UMLS:C1421350 semapv:UnspecifiedMatching -OMIM:603168 ULK1 skos:exactMatch hgnc:ULK1 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:12558 semapv:UnspecifiedMatching +OMIM:603168 ULK1 skos:exactMatch hgnc.symbol:ULK1 semapv:UnspecifiedMatching OMIM:603168 ULK1 skos:exactMatch ncbigene:8408 semapv:UnspecifiedMatching -OMIM:603169 CTSZ skos:exactMatch hgnc:CTSZ semapv:UnspecifiedMatching +OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:2547 semapv:UnspecifiedMatching +OMIM:603169 CTSZ skos:exactMatch hgnc.symbol:CTSZ semapv:UnspecifiedMatching OMIM:603169 CTSZ skos:exactMatch ncbigene:1522 semapv:UnspecifiedMatching OMIM:603170 TEAD3 skos:exactMatch UMLS:C1420681 semapv:UnspecifiedMatching -OMIM:603170 TEAD3 skos:exactMatch hgnc:TEAD3 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:11716 semapv:UnspecifiedMatching +OMIM:603170 TEAD3 skos:exactMatch hgnc.symbol:TEAD3 semapv:UnspecifiedMatching OMIM:603170 TEAD3 skos:exactMatch ncbigene:7005 semapv:UnspecifiedMatching OMIM:603171 NEDD8 skos:exactMatch UMLS:C1417663 semapv:UnspecifiedMatching -OMIM:603171 NEDD8 skos:exactMatch hgnc:NEDD8 semapv:UnspecifiedMatching +OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:7732 semapv:UnspecifiedMatching +OMIM:603171 NEDD8 skos:exactMatch hgnc.symbol:NEDD8 semapv:UnspecifiedMatching OMIM:603171 NEDD8 skos:exactMatch ncbigene:4738 semapv:UnspecifiedMatching -OMIM:603172 UBA3 skos:exactMatch hgnc:UBA3 semapv:UnspecifiedMatching +OMIM:603172 UBA3 skos:exactMatch hgnc.symbol:12470 semapv:UnspecifiedMatching +OMIM:603172 UBA3 skos:exactMatch hgnc.symbol:UBA3 semapv:UnspecifiedMatching OMIM:603172 UBA3 skos:exactMatch ncbigene:9039 semapv:UnspecifiedMatching -OMIM:603173 UBE2M skos:exactMatch hgnc:UBE2M semapv:UnspecifiedMatching +OMIM:603173 UBE2M skos:exactMatch hgnc.symbol:12491 semapv:UnspecifiedMatching +OMIM:603173 UBE2M skos:exactMatch hgnc.symbol:UBE2M semapv:UnspecifiedMatching OMIM:603173 UBE2M skos:exactMatch ncbigene:9040 semapv:UnspecifiedMatching -OMIM:603177 VAMP8 skos:exactMatch hgnc:VAMP8 semapv:UnspecifiedMatching +OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:12647 semapv:UnspecifiedMatching +OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:VAMP8 semapv:UnspecifiedMatching OMIM:603177 VAMP8 skos:exactMatch ncbigene:8673 semapv:UnspecifiedMatching OMIM:603178 ALDH6A1 skos:exactMatch UMLS:C1417216 semapv:UnspecifiedMatching OMIM:603178 ALDH6A1 skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching -OMIM:603178 ALDH6A1 skos:exactMatch hgnc:ALDH6A1 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch hgnc.symbol:7179 semapv:UnspecifiedMatching +OMIM:603178 ALDH6A1 skos:exactMatch hgnc.symbol:ALDH6A1 semapv:UnspecifiedMatching OMIM:603178 ALDH6A1 skos:exactMatch ncbigene:4329 semapv:UnspecifiedMatching -OMIM:603179 CA9 skos:exactMatch hgnc:CA9 semapv:UnspecifiedMatching +OMIM:603179 CA9 skos:exactMatch hgnc.symbol:1383 semapv:UnspecifiedMatching +OMIM:603179 CA9 skos:exactMatch hgnc.symbol:CA9 semapv:UnspecifiedMatching OMIM:603179 CA9 skos:exactMatch ncbigene:768 semapv:UnspecifiedMatching -OMIM:603180 XPOT skos:exactMatch hgnc:XPOT semapv:UnspecifiedMatching +OMIM:603180 XPOT skos:exactMatch hgnc.symbol:12826 semapv:UnspecifiedMatching +OMIM:603180 XPOT skos:exactMatch hgnc.symbol:XPOT semapv:UnspecifiedMatching OMIM:603180 XPOT skos:exactMatch ncbigene:11260 semapv:UnspecifiedMatching -OMIM:603181 ILF2 skos:exactMatch hgnc:ILF2 semapv:UnspecifiedMatching +OMIM:603181 ILF2 skos:exactMatch hgnc.symbol:6037 semapv:UnspecifiedMatching +OMIM:603181 ILF2 skos:exactMatch hgnc.symbol:ILF2 semapv:UnspecifiedMatching OMIM:603181 ILF2 skos:exactMatch ncbigene:3608 semapv:UnspecifiedMatching -OMIM:603182 ILF3 skos:exactMatch hgnc:ILF3 semapv:UnspecifiedMatching +OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:6038 semapv:UnspecifiedMatching +OMIM:603182 ILF3 skos:exactMatch hgnc.symbol:ILF3 semapv:UnspecifiedMatching OMIM:603182 ILF3 skos:exactMatch ncbigene:3609 semapv:UnspecifiedMatching -OMIM:603183 RTN2 skos:exactMatch hgnc:RTN2 semapv:UnspecifiedMatching +OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:10468 semapv:UnspecifiedMatching +OMIM:603183 RTN2 skos:exactMatch hgnc.symbol:RTN2 semapv:UnspecifiedMatching OMIM:603183 RTN2 skos:exactMatch ncbigene:6253 semapv:UnspecifiedMatching OMIM:603184 CDK8 skos:exactMatch UMLS:C1413289 semapv:UnspecifiedMatching OMIM:603184 CDK8 skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching -OMIM:603184 CDK8 skos:exactMatch hgnc:CDK8 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:1779 semapv:UnspecifiedMatching +OMIM:603184 CDK8 skos:exactMatch hgnc.symbol:CDK8 semapv:UnspecifiedMatching OMIM:603184 CDK8 skos:exactMatch ncbigene:1024 semapv:UnspecifiedMatching -OMIM:603185 NASP skos:exactMatch hgnc:NASP semapv:UnspecifiedMatching +OMIM:603185 NASP skos:exactMatch hgnc.symbol:7644 semapv:UnspecifiedMatching +OMIM:603185 NASP skos:exactMatch hgnc.symbol:NASP semapv:UnspecifiedMatching OMIM:603185 NASP skos:exactMatch ncbigene:4678 semapv:UnspecifiedMatching -OMIM:603186 DAXX skos:exactMatch hgnc:DAXX semapv:UnspecifiedMatching +OMIM:603186 DAXX skos:exactMatch hgnc.symbol:2681 semapv:UnspecifiedMatching +OMIM:603186 DAXX skos:exactMatch hgnc.symbol:DAXX semapv:UnspecifiedMatching OMIM:603186 DAXX skos:exactMatch ncbigene:1616 semapv:UnspecifiedMatching OMIM:603187 CETN1 skos:exactMatch UMLS:C1413350 semapv:UnspecifiedMatching -OMIM:603187 CETN1 skos:exactMatch hgnc:CETN1 semapv:UnspecifiedMatching +OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:1866 semapv:UnspecifiedMatching +OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:CETN1 semapv:UnspecifiedMatching OMIM:603187 CETN1 skos:exactMatch ncbigene:1068 semapv:UnspecifiedMatching -OMIM:603189 STX5 skos:exactMatch hgnc:STX5 semapv:UnspecifiedMatching +OMIM:603189 STX5 skos:exactMatch hgnc.symbol:11440 semapv:UnspecifiedMatching +OMIM:603189 STX5 skos:exactMatch hgnc.symbol:STX5 semapv:UnspecifiedMatching OMIM:603189 STX5 skos:exactMatch ncbigene:6811 semapv:UnspecifiedMatching -OMIM:603190 PRMT3 skos:exactMatch hgnc:PRMT3 semapv:UnspecifiedMatching +OMIM:603190 PRMT3 skos:exactMatch hgnc.symbol:30163 semapv:UnspecifiedMatching +OMIM:603190 PRMT3 skos:exactMatch hgnc.symbol:PRMT3 semapv:UnspecifiedMatching OMIM:603190 PRMT3 skos:exactMatch ncbigene:10196 semapv:UnspecifiedMatching -OMIM:603191 CFAP410 skos:exactMatch hgnc:CFAP410 semapv:UnspecifiedMatching +OMIM:603191 CFAP410 skos:exactMatch hgnc.symbol:1260 semapv:UnspecifiedMatching +OMIM:603191 CFAP410 skos:exactMatch hgnc.symbol:CFAP410 semapv:UnspecifiedMatching OMIM:603191 CFAP410 skos:exactMatch ncbigene:755 semapv:UnspecifiedMatching -OMIM:603192 ATP5G1 skos:exactMatch hgnc:ATP5MC1 semapv:UnspecifiedMatching +OMIM:603192 ATP5G1 skos:exactMatch hgnc.symbol:841 semapv:UnspecifiedMatching +OMIM:603192 ATP5G1 skos:exactMatch hgnc.symbol:ATP5MC1 semapv:UnspecifiedMatching OMIM:603192 ATP5G1 skos:exactMatch ncbigene:516 semapv:UnspecifiedMatching -OMIM:603193 ATP5G2 skos:exactMatch hgnc:ATP5MC2 semapv:UnspecifiedMatching +OMIM:603193 ATP5G2 skos:exactMatch hgnc.symbol:842 semapv:UnspecifiedMatching +OMIM:603193 ATP5G2 skos:exactMatch hgnc.symbol:ATP5MC2 semapv:UnspecifiedMatching OMIM:603193 ATP5G2 skos:exactMatch ncbigene:517 semapv:UnspecifiedMatching -OMIM:603195 GPR32 skos:exactMatch hgnc:GPR32 semapv:UnspecifiedMatching +OMIM:603195 GPR32 skos:exactMatch hgnc.symbol:4487 semapv:UnspecifiedMatching +OMIM:603195 GPR32 skos:exactMatch hgnc.symbol:GPR32 semapv:UnspecifiedMatching OMIM:603195 GPR32 skos:exactMatch ncbigene:2854 semapv:UnspecifiedMatching -OMIM:603196 COCH skos:exactMatch hgnc:COCH semapv:UnspecifiedMatching +OMIM:603196 COCH skos:exactMatch hgnc.symbol:2180 semapv:UnspecifiedMatching +OMIM:603196 COCH skos:exactMatch hgnc.symbol:COCH semapv:UnspecifiedMatching OMIM:603196 COCH skos:exactMatch ncbigene:1690 semapv:UnspecifiedMatching -OMIM:603197 PNPLA6 skos:exactMatch hgnc:PNPLA6 semapv:UnspecifiedMatching +OMIM:603197 PNPLA6 skos:exactMatch hgnc.symbol:16268 semapv:UnspecifiedMatching +OMIM:603197 PNPLA6 skos:exactMatch hgnc.symbol:PNPLA6 semapv:UnspecifiedMatching OMIM:603197 PNPLA6 skos:exactMatch ncbigene:10908 semapv:UnspecifiedMatching -OMIM:603198 CAVIN1 skos:exactMatch hgnc:CAVIN1 semapv:UnspecifiedMatching +OMIM:603198 CAVIN1 skos:exactMatch hgnc.symbol:9688 semapv:UnspecifiedMatching +OMIM:603198 CAVIN1 skos:exactMatch hgnc.symbol:CAVIN1 semapv:UnspecifiedMatching OMIM:603198 CAVIN1 skos:exactMatch ncbigene:284119 semapv:UnspecifiedMatching -OMIM:603199 PATJ skos:exactMatch hgnc:PATJ semapv:UnspecifiedMatching +OMIM:603199 PATJ skos:exactMatch hgnc.symbol:28881 semapv:UnspecifiedMatching +OMIM:603199 PATJ skos:exactMatch hgnc.symbol:PATJ semapv:UnspecifiedMatching OMIM:603199 PATJ skos:exactMatch ncbigene:10207 semapv:UnspecifiedMatching OMIM:603200 RFXANK skos:exactMatch UMLS:C1419364 semapv:UnspecifiedMatching OMIM:603200 RFXANK skos:exactMatch UMLS:C1859535 semapv:UnspecifiedMatching -OMIM:603200 RFXANK skos:exactMatch hgnc:RFXANK semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch hgnc.symbol:9987 semapv:UnspecifiedMatching +OMIM:603200 RFXANK skos:exactMatch hgnc.symbol:RFXANK semapv:UnspecifiedMatching OMIM:603200 RFXANK skos:exactMatch ncbigene:8625 semapv:UnspecifiedMatching -OMIM:603201 ABCB11 skos:exactMatch hgnc:ABCB11 semapv:UnspecifiedMatching +OMIM:603201 ABCB11 skos:exactMatch hgnc.symbol:42 semapv:UnspecifiedMatching +OMIM:603201 ABCB11 skos:exactMatch hgnc.symbol:ABCB11 semapv:UnspecifiedMatching OMIM:603201 ABCB11 skos:exactMatch ncbigene:8647 semapv:UnspecifiedMatching -OMIM:603202 LCT skos:exactMatch hgnc:LCT semapv:UnspecifiedMatching +OMIM:603202 LCT skos:exactMatch hgnc.symbol:6530 semapv:UnspecifiedMatching +OMIM:603202 LCT skos:exactMatch hgnc.symbol:LCT semapv:UnspecifiedMatching OMIM:603202 LCT skos:exactMatch ncbigene:3938 semapv:UnspecifiedMatching -OMIM:603203 CCNG2 skos:exactMatch hgnc:CCNG2 semapv:UnspecifiedMatching +OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:1593 semapv:UnspecifiedMatching +OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:CCNG2 semapv:UnspecifiedMatching OMIM:603203 CCNG2 skos:exactMatch ncbigene:901 semapv:UnspecifiedMatching -OMIM:603205 MORC1 skos:exactMatch hgnc:MORC1 semapv:UnspecifiedMatching +OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:7198 semapv:UnspecifiedMatching +OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:MORC1 semapv:UnspecifiedMatching OMIM:603205 MORC1 skos:exactMatch ncbigene:27136 semapv:UnspecifiedMatching -OMIM:603207 VTI1B skos:exactMatch hgnc:VTI1B semapv:UnspecifiedMatching +OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:17793 semapv:UnspecifiedMatching +OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:VTI1B semapv:UnspecifiedMatching OMIM:603207 VTI1B skos:exactMatch ncbigene:10490 semapv:UnspecifiedMatching -OMIM:603208 KCNJ13 skos:exactMatch hgnc:KCNJ13 semapv:UnspecifiedMatching +OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:6259 semapv:UnspecifiedMatching +OMIM:603208 KCNJ13 skos:exactMatch hgnc.symbol:KCNJ13 semapv:UnspecifiedMatching OMIM:603208 KCNJ13 skos:exactMatch ncbigene:3769 semapv:UnspecifiedMatching -OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc:CMAHP semapv:UnspecifiedMatching +OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:2098 semapv:UnspecifiedMatching +OMIM:603209 cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene skos:exactMatch hgnc.symbol:CMAHP semapv:UnspecifiedMatching OMIM:603210 JRK skos:exactMatch UMLS:C1416531 semapv:UnspecifiedMatching -OMIM:603210 JRK skos:exactMatch hgnc:JRK semapv:UnspecifiedMatching +OMIM:603210 JRK skos:exactMatch hgnc.symbol:6199 semapv:UnspecifiedMatching +OMIM:603210 JRK skos:exactMatch hgnc.symbol:JRK semapv:UnspecifiedMatching OMIM:603210 JRK skos:exactMatch ncbigene:8629 semapv:UnspecifiedMatching -OMIM:603211 JRKL skos:exactMatch hgnc:JRKL semapv:UnspecifiedMatching +OMIM:603211 JRKL skos:exactMatch hgnc.symbol:6200 semapv:UnspecifiedMatching +OMIM:603211 JRKL skos:exactMatch hgnc.symbol:JRKL semapv:UnspecifiedMatching OMIM:603211 JRKL skos:exactMatch ncbigene:8690 semapv:UnspecifiedMatching -OMIM:603212 BFSP2 skos:exactMatch hgnc:BFSP2 semapv:UnspecifiedMatching +OMIM:603212 BFSP2 skos:exactMatch hgnc.symbol:1041 semapv:UnspecifiedMatching +OMIM:603212 BFSP2 skos:exactMatch hgnc.symbol:BFSP2 semapv:UnspecifiedMatching OMIM:603212 BFSP2 skos:exactMatch ncbigene:8419 semapv:UnspecifiedMatching -OMIM:603213 KIF22 skos:exactMatch hgnc:KIF22 semapv:UnspecifiedMatching +OMIM:603213 KIF22 skos:exactMatch hgnc.symbol:6391 semapv:UnspecifiedMatching +OMIM:603213 KIF22 skos:exactMatch hgnc.symbol:KIF22 semapv:UnspecifiedMatching OMIM:603213 KIF22 skos:exactMatch ncbigene:3835 semapv:UnspecifiedMatching -OMIM:603214 ABCD4 skos:exactMatch hgnc:ABCD4 semapv:UnspecifiedMatching +OMIM:603214 ABCD4 skos:exactMatch hgnc.symbol:68 semapv:UnspecifiedMatching +OMIM:603214 ABCD4 skos:exactMatch hgnc.symbol:ABCD4 semapv:UnspecifiedMatching OMIM:603214 ABCD4 skos:exactMatch ncbigene:5826 semapv:UnspecifiedMatching -OMIM:603215 NAPA skos:exactMatch hgnc:NAPA semapv:UnspecifiedMatching +OMIM:603215 NAPA skos:exactMatch hgnc.symbol:7641 semapv:UnspecifiedMatching +OMIM:603215 NAPA skos:exactMatch hgnc.symbol:NAPA semapv:UnspecifiedMatching OMIM:603215 NAPA skos:exactMatch ncbigene:8775 semapv:UnspecifiedMatching -OMIM:603216 NAPG skos:exactMatch hgnc:NAPG semapv:UnspecifiedMatching +OMIM:603216 NAPG skos:exactMatch hgnc.symbol:7642 semapv:UnspecifiedMatching +OMIM:603216 NAPG skos:exactMatch hgnc.symbol:NAPG semapv:UnspecifiedMatching OMIM:603216 NAPG skos:exactMatch ncbigene:8774 semapv:UnspecifiedMatching -OMIM:603217 STX7 skos:exactMatch hgnc:STX7 semapv:UnspecifiedMatching +OMIM:603217 STX7 skos:exactMatch hgnc.symbol:11442 semapv:UnspecifiedMatching +OMIM:603217 STX7 skos:exactMatch hgnc.symbol:STX7 semapv:UnspecifiedMatching OMIM:603217 STX7 skos:exactMatch ncbigene:8417 semapv:UnspecifiedMatching -OMIM:603219 KCNK2 skos:exactMatch hgnc:KCNK2 semapv:UnspecifiedMatching +OMIM:603219 KCNK2 skos:exactMatch hgnc.symbol:6277 semapv:UnspecifiedMatching +OMIM:603219 KCNK2 skos:exactMatch hgnc.symbol:KCNK2 semapv:UnspecifiedMatching OMIM:603219 KCNK2 skos:exactMatch ncbigene:3776 semapv:UnspecifiedMatching OMIM:603220 KCNK3 skos:exactMatch UMLS:C1416596 semapv:UnspecifiedMatching OMIM:603220 KCNK3 skos:exactMatch UMLS:C3809198 semapv:UnspecifiedMatching -OMIM:603220 KCNK3 skos:exactMatch hgnc:KCNK3 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:6278 semapv:UnspecifiedMatching +OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:KCNK3 semapv:UnspecifiedMatching OMIM:603220 KCNK3 skos:exactMatch ncbigene:3777 semapv:UnspecifiedMatching -OMIM:603222 u22 host gene skos:exactMatch hgnc:SNHG1 semapv:UnspecifiedMatching +OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:32688 semapv:UnspecifiedMatching +OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:SNHG1 semapv:UnspecifiedMatching OMIM:603222 u22 host gene skos:exactMatch ncbigene:23642 semapv:UnspecifiedMatching -OMIM:603223 RNU22 skos:exactMatch hgnc:SNORD22 semapv:UnspecifiedMatching +OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:10145 semapv:UnspecifiedMatching +OMIM:603223 RNU22 skos:exactMatch hgnc.symbol:SNORD22 semapv:UnspecifiedMatching OMIM:603223 RNU22 skos:exactMatch ncbigene:9304 semapv:UnspecifiedMatching -OMIM:603224 RNU25 skos:exactMatch hgnc:SNORD25 semapv:UnspecifiedMatching +OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:10147 semapv:UnspecifiedMatching +OMIM:603224 RNU25 skos:exactMatch hgnc.symbol:SNORD25 semapv:UnspecifiedMatching OMIM:603224 RNU25 skos:exactMatch ncbigene:9303 semapv:UnspecifiedMatching -OMIM:603225 RNU26 skos:exactMatch hgnc:SNORD26 semapv:UnspecifiedMatching +OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:10148 semapv:UnspecifiedMatching +OMIM:603225 RNU26 skos:exactMatch hgnc.symbol:SNORD26 semapv:UnspecifiedMatching OMIM:603225 RNU26 skos:exactMatch ncbigene:9302 semapv:UnspecifiedMatching -OMIM:603226 RNU27 skos:exactMatch hgnc:SNORD27 semapv:UnspecifiedMatching +OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:10149 semapv:UnspecifiedMatching +OMIM:603226 RNU27 skos:exactMatch hgnc.symbol:SNORD27 semapv:UnspecifiedMatching OMIM:603226 RNU27 skos:exactMatch ncbigene:9301 semapv:UnspecifiedMatching -OMIM:603227 RNU28 skos:exactMatch hgnc:SNORD28 semapv:UnspecifiedMatching +OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:10150 semapv:UnspecifiedMatching +OMIM:603227 RNU28 skos:exactMatch hgnc.symbol:SNORD28 semapv:UnspecifiedMatching OMIM:603227 RNU28 skos:exactMatch ncbigene:9300 semapv:UnspecifiedMatching -OMIM:603228 RNU29 skos:exactMatch hgnc:SNORD29 semapv:UnspecifiedMatching +OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:10151 semapv:UnspecifiedMatching +OMIM:603228 RNU29 skos:exactMatch hgnc.symbol:SNORD29 semapv:UnspecifiedMatching OMIM:603228 RNU29 skos:exactMatch ncbigene:9297 semapv:UnspecifiedMatching -OMIM:603229 RNU30 skos:exactMatch hgnc:SNORD30 semapv:UnspecifiedMatching +OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:10157 semapv:UnspecifiedMatching +OMIM:603229 RNU30 skos:exactMatch hgnc.symbol:SNORD30 semapv:UnspecifiedMatching OMIM:603229 RNU30 skos:exactMatch ncbigene:9299 semapv:UnspecifiedMatching -OMIM:603230 RNU31 skos:exactMatch hgnc:SNORD31 semapv:UnspecifiedMatching +OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:10158 semapv:UnspecifiedMatching +OMIM:603230 RNU31 skos:exactMatch hgnc.symbol:SNORD31 semapv:UnspecifiedMatching OMIM:603230 RNU31 skos:exactMatch ncbigene:9298 semapv:UnspecifiedMatching -OMIM:603231 ZNF200 skos:exactMatch hgnc:ZNF200 semapv:UnspecifiedMatching +OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:12993 semapv:UnspecifiedMatching +OMIM:603231 ZNF200 skos:exactMatch hgnc.symbol:ZNF200 semapv:UnspecifiedMatching OMIM:603231 ZNF200 skos:exactMatch ncbigene:7752 semapv:UnspecifiedMatching -OMIM:603232 OR1F1 skos:exactMatch hgnc:OR1F1 semapv:UnspecifiedMatching +OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:8194 semapv:UnspecifiedMatching +OMIM:603232 OR1F1 skos:exactMatch hgnc.symbol:OR1F1 semapv:UnspecifiedMatching OMIM:603232 OR1F1 skos:exactMatch ncbigene:4992 semapv:UnspecifiedMatching -OMIM:603234 ABCC6 skos:exactMatch hgnc:ABCC6 semapv:UnspecifiedMatching +OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:57 semapv:UnspecifiedMatching +OMIM:603234 ABCC6 skos:exactMatch hgnc.symbol:ABCC6 semapv:UnspecifiedMatching OMIM:603234 ABCC6 skos:exactMatch ncbigene:368 semapv:UnspecifiedMatching -OMIM:603235 SELENOW skos:exactMatch hgnc:SELENOW semapv:UnspecifiedMatching +OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:10752 semapv:UnspecifiedMatching +OMIM:603235 SELENOW skos:exactMatch hgnc.symbol:SELENOW semapv:UnspecifiedMatching OMIM:603235 SELENOW skos:exactMatch ncbigene:6415 semapv:UnspecifiedMatching -OMIM:603236 MVD skos:exactMatch hgnc:MVD semapv:UnspecifiedMatching +OMIM:603236 MVD skos:exactMatch hgnc.symbol:7529 semapv:UnspecifiedMatching +OMIM:603236 MVD skos:exactMatch hgnc.symbol:MVD semapv:UnspecifiedMatching OMIM:603236 MVD skos:exactMatch ncbigene:4597 semapv:UnspecifiedMatching -OMIM:603237 EPB41L2 skos:exactMatch hgnc:EPB41L2 semapv:UnspecifiedMatching +OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:3379 semapv:UnspecifiedMatching +OMIM:603237 EPB41L2 skos:exactMatch hgnc.symbol:EPB41L2 semapv:UnspecifiedMatching OMIM:603237 EPB41L2 skos:exactMatch ncbigene:2037 semapv:UnspecifiedMatching -OMIM:603238 RNU17D skos:exactMatch hgnc:SNHG3 semapv:UnspecifiedMatching +OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:10118 semapv:UnspecifiedMatching +OMIM:603238 RNU17D skos:exactMatch hgnc.symbol:SNHG3 semapv:UnspecifiedMatching OMIM:603238 RNU17D skos:exactMatch ncbigene:8420 semapv:UnspecifiedMatching -OMIM:603239 SNORA73B skos:exactMatch hgnc:SNORA73B semapv:UnspecifiedMatching +OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:10116 semapv:UnspecifiedMatching +OMIM:603239 SNORA73B skos:exactMatch hgnc.symbol:SNORA73B semapv:UnspecifiedMatching OMIM:603239 SNORA73B skos:exactMatch ncbigene:26768 semapv:UnspecifiedMatching -OMIM:603240 SLC22A18AS skos:exactMatch hgnc:SLC22A18AS semapv:UnspecifiedMatching +OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:10965 semapv:UnspecifiedMatching +OMIM:603240 SLC22A18AS skos:exactMatch hgnc.symbol:SLC22A18AS semapv:UnspecifiedMatching OMIM:603240 SLC22A18AS skos:exactMatch ncbigene:5003 semapv:UnspecifiedMatching -OMIM:603241 LSAMP skos:exactMatch hgnc:LSAMP semapv:UnspecifiedMatching +OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:6705 semapv:UnspecifiedMatching +OMIM:603241 LSAMP skos:exactMatch hgnc.symbol:LSAMP semapv:UnspecifiedMatching OMIM:603241 LSAMP skos:exactMatch ncbigene:4045 semapv:UnspecifiedMatching -OMIM:603242 CLEC2B skos:exactMatch hgnc:CLEC2B semapv:UnspecifiedMatching +OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:2053 semapv:UnspecifiedMatching +OMIM:603242 CLEC2B skos:exactMatch hgnc.symbol:CLEC2B semapv:UnspecifiedMatching OMIM:603242 CLEC2B skos:exactMatch ncbigene:9976 semapv:UnspecifiedMatching -OMIM:603243 AMFR skos:exactMatch hgnc:AMFR semapv:UnspecifiedMatching +OMIM:603243 AMFR skos:exactMatch hgnc.symbol:463 semapv:UnspecifiedMatching +OMIM:603243 AMFR skos:exactMatch hgnc.symbol:AMFR semapv:UnspecifiedMatching OMIM:603243 AMFR skos:exactMatch ncbigene:267 semapv:UnspecifiedMatching -OMIM:603244 HS3ST1 skos:exactMatch hgnc:HS3ST1 semapv:UnspecifiedMatching +OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:5194 semapv:UnspecifiedMatching +OMIM:603244 HS3ST1 skos:exactMatch hgnc.symbol:HS3ST1 semapv:UnspecifiedMatching OMIM:603244 HS3ST1 skos:exactMatch ncbigene:9957 semapv:UnspecifiedMatching -OMIM:603245 NKX2-8 skos:exactMatch hgnc:NKX2-8 semapv:UnspecifiedMatching +OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:16364 semapv:UnspecifiedMatching +OMIM:603245 NKX2-8 skos:exactMatch hgnc.symbol:NKX2-8 semapv:UnspecifiedMatching OMIM:603245 NKX2-8 skos:exactMatch ncbigene:26257 semapv:UnspecifiedMatching -OMIM:603246 GTF3C1 skos:exactMatch hgnc:GTF3C1 semapv:UnspecifiedMatching +OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:4664 semapv:UnspecifiedMatching +OMIM:603246 GTF3C1 skos:exactMatch hgnc.symbol:GTF3C1 semapv:UnspecifiedMatching OMIM:603246 GTF3C1 skos:exactMatch ncbigene:2975 semapv:UnspecifiedMatching -OMIM:603247 SLC27A2 skos:exactMatch hgnc:SLC27A2 semapv:UnspecifiedMatching +OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:10996 semapv:UnspecifiedMatching +OMIM:603247 SLC27A2 skos:exactMatch hgnc.symbol:SLC27A2 semapv:UnspecifiedMatching OMIM:603247 SLC27A2 skos:exactMatch ncbigene:11001 semapv:UnspecifiedMatching -OMIM:603248 BMPR1B skos:exactMatch hgnc:BMPR1B semapv:UnspecifiedMatching +OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:1077 semapv:UnspecifiedMatching +OMIM:603248 BMPR1B skos:exactMatch hgnc.symbol:BMPR1B semapv:UnspecifiedMatching OMIM:603248 BMPR1B skos:exactMatch ncbigene:658 semapv:UnspecifiedMatching -OMIM:603249 NIPSNAP1 skos:exactMatch hgnc:NIPSNAP1 semapv:UnspecifiedMatching +OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:7827 semapv:UnspecifiedMatching +OMIM:603249 NIPSNAP1 skos:exactMatch hgnc.symbol:NIPSNAP1 semapv:UnspecifiedMatching OMIM:603249 NIPSNAP1 skos:exactMatch ncbigene:8508 semapv:UnspecifiedMatching -OMIM:603250 FOXF2 skos:exactMatch hgnc:FOXF2 semapv:UnspecifiedMatching +OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:3810 semapv:UnspecifiedMatching +OMIM:603250 FOXF2 skos:exactMatch hgnc.symbol:FOXF2 semapv:UnspecifiedMatching OMIM:603250 FOXF2 skos:exactMatch ncbigene:2295 semapv:UnspecifiedMatching -OMIM:603251 CDK9 skos:exactMatch hgnc:CDK9 semapv:UnspecifiedMatching +OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:1780 semapv:UnspecifiedMatching +OMIM:603251 CDK9 skos:exactMatch hgnc.symbol:CDK9 semapv:UnspecifiedMatching OMIM:603251 CDK9 skos:exactMatch ncbigene:1025 semapv:UnspecifiedMatching -OMIM:603252 FOXL1 skos:exactMatch hgnc:FOXL1 semapv:UnspecifiedMatching +OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:3817 semapv:UnspecifiedMatching +OMIM:603252 FOXL1 skos:exactMatch hgnc.symbol:FOXL1 semapv:UnspecifiedMatching OMIM:603252 FOXL1 skos:exactMatch ncbigene:2300 semapv:UnspecifiedMatching -OMIM:603253 CST7 skos:exactMatch hgnc:CST7 semapv:UnspecifiedMatching +OMIM:603253 CST7 skos:exactMatch hgnc.symbol:2479 semapv:UnspecifiedMatching +OMIM:603253 CST7 skos:exactMatch hgnc.symbol:CST7 semapv:UnspecifiedMatching OMIM:603253 CST7 skos:exactMatch ncbigene:8530 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch UMLS:C1335843 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch UMLS:C2750074 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch UMLS:C3553249 semapv:UnspecifiedMatching -OMIM:603254 SMARCA4 skos:exactMatch hgnc:SMARCA4 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:11100 semapv:UnspecifiedMatching +OMIM:603254 SMARCA4 skos:exactMatch hgnc.symbol:SMARCA4 semapv:UnspecifiedMatching OMIM:603254 SMARCA4 skos:exactMatch ncbigene:6597 semapv:UnspecifiedMatching -OMIM:603255 NFX1 skos:exactMatch hgnc:NFX1 semapv:UnspecifiedMatching +OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:7803 semapv:UnspecifiedMatching +OMIM:603255 NFX1 skos:exactMatch hgnc.symbol:NFX1 semapv:UnspecifiedMatching OMIM:603255 NFX1 skos:exactMatch ncbigene:4799 semapv:UnspecifiedMatching -OMIM:603256 LRRFIP1 skos:exactMatch hgnc:LRRFIP1 semapv:UnspecifiedMatching +OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:6702 semapv:UnspecifiedMatching +OMIM:603256 LRRFIP1 skos:exactMatch hgnc.symbol:LRRFIP1 semapv:UnspecifiedMatching OMIM:603256 LRRFIP1 skos:exactMatch ncbigene:9208 semapv:UnspecifiedMatching -OMIM:603257 SMARCA3 skos:exactMatch hgnc:HLTF semapv:UnspecifiedMatching +OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:11099 semapv:UnspecifiedMatching +OMIM:603257 SMARCA3 skos:exactMatch hgnc.symbol:HLTF semapv:UnspecifiedMatching OMIM:603257 SMARCA3 skos:exactMatch ncbigene:6596 semapv:UnspecifiedMatching OMIM:603258 IKBKB skos:exactMatch UMLS:C1442489 semapv:UnspecifiedMatching OMIM:603258 IKBKB skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching OMIM:603258 IKBKB skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching -OMIM:603258 IKBKB skos:exactMatch hgnc:IKBKB semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:5960 semapv:UnspecifiedMatching +OMIM:603258 IKBKB skos:exactMatch hgnc.symbol:IKBKB semapv:UnspecifiedMatching OMIM:603258 IKBKB skos:exactMatch ncbigene:3551 semapv:UnspecifiedMatching -OMIM:603260 BARX1 skos:exactMatch hgnc:BARX1 semapv:UnspecifiedMatching +OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:955 semapv:UnspecifiedMatching +OMIM:603260 BARX1 skos:exactMatch hgnc.symbol:BARX1 semapv:UnspecifiedMatching OMIM:603260 BARX1 skos:exactMatch ncbigene:56033 semapv:UnspecifiedMatching -OMIM:603261 PIP4K2B skos:exactMatch hgnc:PIP4K2B semapv:UnspecifiedMatching +OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:8998 semapv:UnspecifiedMatching +OMIM:603261 PIP4K2B skos:exactMatch hgnc.symbol:PIP4K2B semapv:UnspecifiedMatching OMIM:603261 PIP4K2B skos:exactMatch ncbigene:8396 semapv:UnspecifiedMatching -OMIM:603262 PAPSS1 skos:exactMatch hgnc:PAPSS1 semapv:UnspecifiedMatching +OMIM:603262 PAPSS1 skos:exactMatch hgnc.symbol:8603 semapv:UnspecifiedMatching +OMIM:603262 PAPSS1 skos:exactMatch hgnc.symbol:PAPSS1 semapv:UnspecifiedMatching OMIM:603262 PAPSS1 skos:exactMatch ncbigene:9061 semapv:UnspecifiedMatching -OMIM:603263 CA12 skos:exactMatch hgnc:CA12 semapv:UnspecifiedMatching +OMIM:603263 CA12 skos:exactMatch hgnc.symbol:1371 semapv:UnspecifiedMatching +OMIM:603263 CA12 skos:exactMatch hgnc.symbol:CA12 semapv:UnspecifiedMatching OMIM:603263 CA12 skos:exactMatch ncbigene:771 semapv:UnspecifiedMatching -OMIM:603264 RHBDL1 skos:exactMatch hgnc:RHBDL1 semapv:UnspecifiedMatching +OMIM:603264 RHBDL1 skos:exactMatch hgnc.symbol:10007 semapv:UnspecifiedMatching +OMIM:603264 RHBDL1 skos:exactMatch hgnc.symbol:RHBDL1 semapv:UnspecifiedMatching OMIM:603264 RHBDL1 skos:exactMatch ncbigene:9028 semapv:UnspecifiedMatching -OMIM:603265 ARID3A skos:exactMatch hgnc:ARID3A semapv:UnspecifiedMatching +OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:3031 semapv:UnspecifiedMatching +OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:ARID3A semapv:UnspecifiedMatching OMIM:603265 ARID3A skos:exactMatch ncbigene:1820 semapv:UnspecifiedMatching OMIM:603266 iia 1 diabetes mellitus 17 skos:exactMatch UMLS:C1864068 semapv:UnspecifiedMatching OMIM:603267 CAPN15 skos:exactMatch UMLS:C1420309 semapv:UnspecifiedMatching -OMIM:603267 CAPN15 skos:exactMatch hgnc:CAPN15 semapv:UnspecifiedMatching +OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:11182 semapv:UnspecifiedMatching +OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:CAPN15 semapv:UnspecifiedMatching OMIM:603267 CAPN15 skos:exactMatch ncbigene:6650 semapv:UnspecifiedMatching -OMIM:603268 NDST2 skos:exactMatch hgnc:NDST2 semapv:UnspecifiedMatching +OMIM:603268 NDST2 skos:exactMatch hgnc.symbol:7681 semapv:UnspecifiedMatching +OMIM:603268 NDST2 skos:exactMatch hgnc.symbol:NDST2 semapv:UnspecifiedMatching OMIM:603268 NDST2 skos:exactMatch ncbigene:8509 semapv:UnspecifiedMatching -OMIM:603269 SRSF8 skos:exactMatch hgnc:SRSF8 semapv:UnspecifiedMatching +OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:16988 semapv:UnspecifiedMatching +OMIM:603269 SRSF8 skos:exactMatch hgnc.symbol:SRSF8 semapv:UnspecifiedMatching OMIM:603269 SRSF8 skos:exactMatch ncbigene:10929 semapv:UnspecifiedMatching OMIM:603270 ATP5PB skos:exactMatch UMLS:C1412661 semapv:UnspecifiedMatching -OMIM:603270 ATP5PB skos:exactMatch hgnc:ATP5PB semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:840 semapv:UnspecifiedMatching +OMIM:603270 ATP5PB skos:exactMatch hgnc.symbol:ATP5PB semapv:UnspecifiedMatching OMIM:603270 ATP5PB skos:exactMatch ncbigene:515 semapv:UnspecifiedMatching -OMIM:603271 PTPN21 skos:exactMatch hgnc:PTPN21 semapv:UnspecifiedMatching +OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:9651 semapv:UnspecifiedMatching +OMIM:603271 PTPN21 skos:exactMatch hgnc.symbol:PTPN21 semapv:UnspecifiedMatching OMIM:603271 PTPN21 skos:exactMatch ncbigene:11099 semapv:UnspecifiedMatching -OMIM:603272 CNKSR1 skos:exactMatch hgnc:CNKSR1 semapv:UnspecifiedMatching +OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:19700 semapv:UnspecifiedMatching +OMIM:603272 CNKSR1 skos:exactMatch hgnc.symbol:CNKSR1 semapv:UnspecifiedMatching OMIM:603272 CNKSR1 skos:exactMatch ncbigene:10256 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1422009 semapv:UnspecifiedMatching @@ -15498,273 +21137,389 @@ OMIM:603273 TP63 skos:exactMatch UMLS:C1854442 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1858562 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1863204 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching -OMIM:603273 TP63 skos:exactMatch hgnc:TP63 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch hgnc.symbol:15979 semapv:UnspecifiedMatching +OMIM:603273 TP63 skos:exactMatch hgnc.symbol:TP63 semapv:UnspecifiedMatching OMIM:603273 TP63 skos:exactMatch ncbigene:8626 semapv:UnspecifiedMatching -OMIM:603275 PIP5K1A skos:exactMatch hgnc:PIP5K1A semapv:UnspecifiedMatching +OMIM:603275 PIP5K1A skos:exactMatch hgnc.symbol:8994 semapv:UnspecifiedMatching +OMIM:603275 PIP5K1A skos:exactMatch hgnc.symbol:PIP5K1A semapv:UnspecifiedMatching OMIM:603275 PIP5K1A skos:exactMatch ncbigene:8394 semapv:UnspecifiedMatching -OMIM:603276 RGS5 skos:exactMatch hgnc:RGS5 semapv:UnspecifiedMatching +OMIM:603276 RGS5 skos:exactMatch hgnc.symbol:10001 semapv:UnspecifiedMatching +OMIM:603276 RGS5 skos:exactMatch hgnc.symbol:RGS5 semapv:UnspecifiedMatching OMIM:603276 RGS5 skos:exactMatch ncbigene:8490 semapv:UnspecifiedMatching -OMIM:603277 CHD4 skos:exactMatch hgnc:CHD4 semapv:UnspecifiedMatching +OMIM:603277 CHD4 skos:exactMatch hgnc.symbol:1919 semapv:UnspecifiedMatching +OMIM:603277 CHD4 skos:exactMatch hgnc.symbol:CHD4 semapv:UnspecifiedMatching OMIM:603277 CHD4 skos:exactMatch ncbigene:1108 semapv:UnspecifiedMatching +OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch UMLS:C4551527 semapv:UnspecifiedMatching -OMIM:603278 focal segmental glomerulosclerosis 1 skos:exactMatch orphanet.ordo:656 semapv:UnspecifiedMatching -OMIM:603279 ERDA1 skos:exactMatch hgnc:ERDA1 semapv:UnspecifiedMatching +OMIM:603279 ERDA1 skos:exactMatch hgnc.symbol:3442 semapv:UnspecifiedMatching +OMIM:603279 ERDA1 skos:exactMatch hgnc.symbol:ERDA1 semapv:UnspecifiedMatching OMIM:603279 ERDA1 skos:exactMatch ncbigene:9030 semapv:UnspecifiedMatching -OMIM:603281 OASL skos:exactMatch hgnc:OASL semapv:UnspecifiedMatching +OMIM:603281 OASL skos:exactMatch hgnc.symbol:8090 semapv:UnspecifiedMatching +OMIM:603281 OASL skos:exactMatch hgnc.symbol:OASL semapv:UnspecifiedMatching OMIM:603281 OASL skos:exactMatch ncbigene:8638 semapv:UnspecifiedMatching -OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc:ZNF204P semapv:UnspecifiedMatching -OMIM:603283 TRDN skos:exactMatch hgnc:TRDN semapv:UnspecifiedMatching +OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc.symbol:12995 semapv:UnspecifiedMatching +OMIM:603282 zinc finger protein 204 skos:exactMatch hgnc.symbol:ZNF204P semapv:UnspecifiedMatching +OMIM:603283 TRDN skos:exactMatch hgnc.symbol:12261 semapv:UnspecifiedMatching +OMIM:603283 TRDN skos:exactMatch hgnc.symbol:TRDN semapv:UnspecifiedMatching OMIM:603283 TRDN skos:exactMatch ncbigene:10345 semapv:UnspecifiedMatching +OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch Orphanet:221061 semapv:UnspecifiedMatching OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch UMLS:C1864040 semapv:UnspecifiedMatching -OMIM:603285 cerebral cavernous malformations 3 skos:exactMatch orphanet.ordo:221061 semapv:UnspecifiedMatching -OMIM:603286 KISS1 skos:exactMatch hgnc:KISS1 semapv:UnspecifiedMatching +OMIM:603286 KISS1 skos:exactMatch hgnc.symbol:6341 semapv:UnspecifiedMatching +OMIM:603286 KISS1 skos:exactMatch hgnc.symbol:KISS1 semapv:UnspecifiedMatching OMIM:603286 KISS1 skos:exactMatch ncbigene:3814 semapv:UnspecifiedMatching -OMIM:603287 PNPO skos:exactMatch hgnc:PNPO semapv:UnspecifiedMatching +OMIM:603287 PNPO skos:exactMatch hgnc.symbol:30260 semapv:UnspecifiedMatching +OMIM:603287 PNPO skos:exactMatch hgnc.symbol:PNPO semapv:UnspecifiedMatching OMIM:603287 PNPO skos:exactMatch ncbigene:55163 semapv:UnspecifiedMatching -OMIM:603288 KERA skos:exactMatch hgnc:KERA semapv:UnspecifiedMatching +OMIM:603288 KERA skos:exactMatch hgnc.symbol:6309 semapv:UnspecifiedMatching +OMIM:603288 KERA skos:exactMatch hgnc.symbol:KERA semapv:UnspecifiedMatching OMIM:603288 KERA skos:exactMatch ncbigene:11081 semapv:UnspecifiedMatching -OMIM:603289 DAPK3 skos:exactMatch hgnc:DAPK3 semapv:UnspecifiedMatching +OMIM:603289 DAPK3 skos:exactMatch hgnc.symbol:2676 semapv:UnspecifiedMatching +OMIM:603289 DAPK3 skos:exactMatch hgnc.symbol:DAPK3 semapv:UnspecifiedMatching OMIM:603289 DAPK3 skos:exactMatch ncbigene:1613 semapv:UnspecifiedMatching -OMIM:603290 SHANK2 skos:exactMatch hgnc:SHANK2 semapv:UnspecifiedMatching +OMIM:603290 SHANK2 skos:exactMatch hgnc.symbol:14295 semapv:UnspecifiedMatching +OMIM:603290 SHANK2 skos:exactMatch hgnc.symbol:SHANK2 semapv:UnspecifiedMatching OMIM:603290 SHANK2 skos:exactMatch ncbigene:22941 semapv:UnspecifiedMatching -OMIM:603291 BNIP1 skos:exactMatch hgnc:BNIP1 semapv:UnspecifiedMatching +OMIM:603291 BNIP1 skos:exactMatch hgnc.symbol:1082 semapv:UnspecifiedMatching +OMIM:603291 BNIP1 skos:exactMatch hgnc.symbol:BNIP1 semapv:UnspecifiedMatching OMIM:603291 BNIP1 skos:exactMatch ncbigene:662 semapv:UnspecifiedMatching -OMIM:603292 BNIP2 skos:exactMatch hgnc:BNIP2 semapv:UnspecifiedMatching +OMIM:603292 BNIP2 skos:exactMatch hgnc.symbol:1083 semapv:UnspecifiedMatching +OMIM:603292 BNIP2 skos:exactMatch hgnc.symbol:BNIP2 semapv:UnspecifiedMatching OMIM:603292 BNIP2 skos:exactMatch ncbigene:663 semapv:UnspecifiedMatching -OMIM:603293 BNIP3 skos:exactMatch hgnc:BNIP3 semapv:UnspecifiedMatching +OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:1084 semapv:UnspecifiedMatching +OMIM:603293 BNIP3 skos:exactMatch hgnc.symbol:BNIP3 semapv:UnspecifiedMatching OMIM:603293 BNIP3 skos:exactMatch ncbigene:664 semapv:UnspecifiedMatching -OMIM:603294 MCM3AP skos:exactMatch hgnc:MCM3AP semapv:UnspecifiedMatching +OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:6946 semapv:UnspecifiedMatching +OMIM:603294 MCM3AP skos:exactMatch hgnc.symbol:MCM3AP semapv:UnspecifiedMatching OMIM:603294 MCM3AP skos:exactMatch ncbigene:8888 semapv:UnspecifiedMatching OMIM:603295 SMAD9 skos:exactMatch UMLS:C1416964 semapv:UnspecifiedMatching OMIM:603295 SMAD9 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:603295 SMAD9 skos:exactMatch UMLS:C3888002 semapv:UnspecifiedMatching -OMIM:603295 SMAD9 skos:exactMatch hgnc:SMAD9 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:6774 semapv:UnspecifiedMatching +OMIM:603295 SMAD9 skos:exactMatch hgnc.symbol:SMAD9 semapv:UnspecifiedMatching OMIM:603295 SMAD9 skos:exactMatch ncbigene:4093 semapv:UnspecifiedMatching -OMIM:603296 LAMTOR3 skos:exactMatch hgnc:LAMTOR3 semapv:UnspecifiedMatching +OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:15606 semapv:UnspecifiedMatching +OMIM:603296 LAMTOR3 skos:exactMatch hgnc.symbol:LAMTOR3 semapv:UnspecifiedMatching OMIM:603296 LAMTOR3 skos:exactMatch ncbigene:8649 semapv:UnspecifiedMatching -OMIM:603297 DYNC2H1 skos:exactMatch hgnc:DYNC2H1 semapv:UnspecifiedMatching +OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:2962 semapv:UnspecifiedMatching +OMIM:603297 DYNC2H1 skos:exactMatch hgnc.symbol:DYNC2H1 semapv:UnspecifiedMatching OMIM:603297 DYNC2H1 skos:exactMatch ncbigene:79659 semapv:UnspecifiedMatching -OMIM:603298 PPT2 skos:exactMatch hgnc:PPT2 semapv:UnspecifiedMatching +OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:9326 semapv:UnspecifiedMatching +OMIM:603298 PPT2 skos:exactMatch hgnc.symbol:PPT2 semapv:UnspecifiedMatching OMIM:603298 PPT2 skos:exactMatch ncbigene:9374 semapv:UnspecifiedMatching -OMIM:603300 TNFAIP2 skos:exactMatch hgnc:TNFAIP2 semapv:UnspecifiedMatching +OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:11895 semapv:UnspecifiedMatching +OMIM:603300 TNFAIP2 skos:exactMatch hgnc.symbol:TNFAIP2 semapv:UnspecifiedMatching OMIM:603300 TNFAIP2 skos:exactMatch ncbigene:7127 semapv:UnspecifiedMatching -OMIM:603301 KLF11 skos:exactMatch hgnc:KLF11 semapv:UnspecifiedMatching +OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:11811 semapv:UnspecifiedMatching +OMIM:603301 KLF11 skos:exactMatch hgnc.symbol:KLF11 semapv:UnspecifiedMatching OMIM:603301 KLF11 skos:exactMatch ncbigene:8462 semapv:UnspecifiedMatching -OMIM:603302 ADCY9 skos:exactMatch hgnc:ADCY9 semapv:UnspecifiedMatching +OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:240 semapv:UnspecifiedMatching +OMIM:603302 ADCY9 skos:exactMatch hgnc.symbol:ADCY9 semapv:UnspecifiedMatching OMIM:603302 ADCY9 skos:exactMatch ncbigene:115 semapv:UnspecifiedMatching -OMIM:603303 TNKS skos:exactMatch hgnc:TNKS semapv:UnspecifiedMatching +OMIM:603303 TNKS skos:exactMatch hgnc.symbol:11941 semapv:UnspecifiedMatching +OMIM:603303 TNKS skos:exactMatch hgnc.symbol:TNKS semapv:UnspecifiedMatching OMIM:603303 TNKS skos:exactMatch ncbigene:8658 semapv:UnspecifiedMatching -OMIM:603304 IRAK2 skos:exactMatch hgnc:IRAK2 semapv:UnspecifiedMatching +OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:6113 semapv:UnspecifiedMatching +OMIM:603304 IRAK2 skos:exactMatch hgnc.symbol:IRAK2 semapv:UnspecifiedMatching OMIM:603304 IRAK2 skos:exactMatch ncbigene:3656 semapv:UnspecifiedMatching -OMIM:603305 KCNH1 skos:exactMatch hgnc:KCNH1 semapv:UnspecifiedMatching +OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:6250 semapv:UnspecifiedMatching +OMIM:603305 KCNH1 skos:exactMatch hgnc.symbol:KCNH1 semapv:UnspecifiedMatching OMIM:603305 KCNH1 skos:exactMatch ncbigene:3756 semapv:UnspecifiedMatching -OMIM:603306 TCF21 skos:exactMatch hgnc:TCF21 semapv:UnspecifiedMatching +OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:11632 semapv:UnspecifiedMatching +OMIM:603306 TCF21 skos:exactMatch hgnc.symbol:TCF21 semapv:UnspecifiedMatching OMIM:603306 TCF21 skos:exactMatch ncbigene:6943 semapv:UnspecifiedMatching -OMIM:603307 BFSP1 skos:exactMatch hgnc:BFSP1 semapv:UnspecifiedMatching +OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:1040 semapv:UnspecifiedMatching +OMIM:603307 BFSP1 skos:exactMatch hgnc.symbol:BFSP1 semapv:UnspecifiedMatching OMIM:603307 BFSP1 skos:exactMatch ncbigene:631 semapv:UnspecifiedMatching -OMIM:603308 CTSV skos:exactMatch hgnc:CTSV semapv:UnspecifiedMatching +OMIM:603308 CTSV skos:exactMatch hgnc.symbol:2538 semapv:UnspecifiedMatching +OMIM:603308 CTSV skos:exactMatch hgnc.symbol:CTSV semapv:UnspecifiedMatching OMIM:603308 CTSV skos:exactMatch ncbigene:1515 semapv:UnspecifiedMatching -OMIM:603309 CDK13 skos:exactMatch hgnc:CDK13 semapv:UnspecifiedMatching +OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:1733 semapv:UnspecifiedMatching +OMIM:603309 CDK13 skos:exactMatch hgnc.symbol:CDK13 semapv:UnspecifiedMatching OMIM:603309 CDK13 skos:exactMatch ncbigene:8621 semapv:UnspecifiedMatching -OMIM:603310 PDE5A skos:exactMatch hgnc:PDE5A semapv:UnspecifiedMatching +OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:8784 semapv:UnspecifiedMatching +OMIM:603310 PDE5A skos:exactMatch hgnc.symbol:PDE5A semapv:UnspecifiedMatching OMIM:603310 PDE5A skos:exactMatch ncbigene:8654 semapv:UnspecifiedMatching -OMIM:603311 CDC7 skos:exactMatch hgnc:CDC7 semapv:UnspecifiedMatching +OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:1745 semapv:UnspecifiedMatching +OMIM:603311 CDC7 skos:exactMatch hgnc.symbol:CDC7 semapv:UnspecifiedMatching OMIM:603311 CDC7 skos:exactMatch ncbigene:8317 semapv:UnspecifiedMatching -OMIM:603312 BBOX1 skos:exactMatch hgnc:BBOX1 semapv:UnspecifiedMatching +OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:964 semapv:UnspecifiedMatching +OMIM:603312 BBOX1 skos:exactMatch hgnc.symbol:BBOX1 semapv:UnspecifiedMatching OMIM:603312 BBOX1 skos:exactMatch ncbigene:8424 semapv:UnspecifiedMatching OMIM:603313 ALG10B skos:exactMatch UMLS:C1538264 semapv:UnspecifiedMatching OMIM:603313 ALG10B skos:exactMatch UMLS:C4016828 semapv:UnspecifiedMatching -OMIM:603313 ALG10B skos:exactMatch hgnc:ALG10B semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:31088 semapv:UnspecifiedMatching +OMIM:603313 ALG10B skos:exactMatch hgnc.symbol:ALG10B semapv:UnspecifiedMatching OMIM:603313 ALG10B skos:exactMatch ncbigene:144245 semapv:UnspecifiedMatching -OMIM:603314 SLC27A5 skos:exactMatch hgnc:SLC27A5 semapv:UnspecifiedMatching +OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:10999 semapv:UnspecifiedMatching +OMIM:603314 SLC27A5 skos:exactMatch hgnc.symbol:SLC27A5 semapv:UnspecifiedMatching OMIM:603314 SLC27A5 skos:exactMatch ncbigene:10998 semapv:UnspecifiedMatching OMIM:603315 NCS1 skos:exactMatch UMLS:C1414814 semapv:UnspecifiedMatching -OMIM:603315 NCS1 skos:exactMatch hgnc:NCS1 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:3953 semapv:UnspecifiedMatching +OMIM:603315 NCS1 skos:exactMatch hgnc.symbol:NCS1 semapv:UnspecifiedMatching OMIM:603315 NCS1 skos:exactMatch ncbigene:23413 semapv:UnspecifiedMatching -OMIM:603316 CMAS skos:exactMatch hgnc:CMAS semapv:UnspecifiedMatching +OMIM:603316 CMAS skos:exactMatch hgnc.symbol:18290 semapv:UnspecifiedMatching +OMIM:603316 CMAS skos:exactMatch hgnc.symbol:CMAS semapv:UnspecifiedMatching OMIM:603316 CMAS skos:exactMatch ncbigene:55907 semapv:UnspecifiedMatching -OMIM:603317 PTPRQ skos:exactMatch hgnc:PTPRQ semapv:UnspecifiedMatching +OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:9679 semapv:UnspecifiedMatching +OMIM:603317 PTPRQ skos:exactMatch hgnc.symbol:PTPRQ semapv:UnspecifiedMatching OMIM:603317 PTPRQ skos:exactMatch ncbigene:374462 semapv:UnspecifiedMatching -OMIM:603319 ANXA9 skos:exactMatch hgnc:ANXA9 semapv:UnspecifiedMatching +OMIM:603319 ANXA9 skos:exactMatch hgnc.symbol:547 semapv:UnspecifiedMatching +OMIM:603319 ANXA9 skos:exactMatch hgnc.symbol:ANXA9 semapv:UnspecifiedMatching OMIM:603319 ANXA9 skos:exactMatch ncbigene:8416 semapv:UnspecifiedMatching -OMIM:603320 MMP23A skos:exactMatch hgnc:MMP23A semapv:UnspecifiedMatching +OMIM:603320 MMP23A skos:exactMatch hgnc.symbol:7170 semapv:UnspecifiedMatching +OMIM:603320 MMP23A skos:exactMatch hgnc.symbol:MMP23A semapv:UnspecifiedMatching OMIM:603320 MMP23A skos:exactMatch ncbigene:8511 semapv:UnspecifiedMatching -OMIM:603321 MMP23B skos:exactMatch hgnc:MMP23B semapv:UnspecifiedMatching +OMIM:603321 MMP23B skos:exactMatch hgnc.symbol:7171 semapv:UnspecifiedMatching +OMIM:603321 MMP23B skos:exactMatch hgnc.symbol:MMP23B semapv:UnspecifiedMatching OMIM:603321 MMP23B skos:exactMatch ncbigene:8510 semapv:UnspecifiedMatching -OMIM:603322 NDUFB6 skos:exactMatch hgnc:NDUFB6 semapv:UnspecifiedMatching +OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:7701 semapv:UnspecifiedMatching +OMIM:603322 NDUFB6 skos:exactMatch hgnc.symbol:NDUFB6 semapv:UnspecifiedMatching OMIM:603322 NDUFB6 skos:exactMatch ncbigene:4712 semapv:UnspecifiedMatching -OMIM:603324 GJB3 skos:exactMatch hgnc:GJB3 semapv:UnspecifiedMatching +OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:4285 semapv:UnspecifiedMatching +OMIM:603324 GJB3 skos:exactMatch hgnc.symbol:GJB3 semapv:UnspecifiedMatching OMIM:603324 GJB3 skos:exactMatch ncbigene:2707 semapv:UnspecifiedMatching -OMIM:603325 PPP1R9B skos:exactMatch hgnc:PPP1R9B semapv:UnspecifiedMatching +OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:9298 semapv:UnspecifiedMatching +OMIM:603325 PPP1R9B skos:exactMatch hgnc.symbol:PPP1R9B semapv:UnspecifiedMatching OMIM:603325 PPP1R9B skos:exactMatch ncbigene:84687 semapv:UnspecifiedMatching -OMIM:603326 PPP1R3D skos:exactMatch hgnc:PPP1R3D semapv:UnspecifiedMatching +OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:9294 semapv:UnspecifiedMatching +OMIM:603326 PPP1R3D skos:exactMatch hgnc.symbol:PPP1R3D semapv:UnspecifiedMatching OMIM:603326 PPP1R3D skos:exactMatch ncbigene:5509 semapv:UnspecifiedMatching -OMIM:603327 RANBP3 skos:exactMatch hgnc:RANBP3 semapv:UnspecifiedMatching +OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:9850 semapv:UnspecifiedMatching +OMIM:603327 RANBP3 skos:exactMatch hgnc.symbol:RANBP3 semapv:UnspecifiedMatching OMIM:603327 RANBP3 skos:exactMatch ncbigene:8498 semapv:UnspecifiedMatching OMIM:603328 MSI1 skos:exactMatch UMLS:C1417335 semapv:UnspecifiedMatching -OMIM:603328 MSI1 skos:exactMatch hgnc:MSI1 semapv:UnspecifiedMatching +OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:7330 semapv:UnspecifiedMatching +OMIM:603328 MSI1 skos:exactMatch hgnc.symbol:MSI1 semapv:UnspecifiedMatching OMIM:603328 MSI1 skos:exactMatch ncbigene:4440 semapv:UnspecifiedMatching OMIM:603330 DNAH9 skos:exactMatch UMLS:C1414104 semapv:UnspecifiedMatching OMIM:603330 DNAH9 skos:exactMatch UMLS:C4749090 semapv:UnspecifiedMatching -OMIM:603330 DNAH9 skos:exactMatch hgnc:DNAH9 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:2953 semapv:UnspecifiedMatching +OMIM:603330 DNAH9 skos:exactMatch hgnc.symbol:DNAH9 semapv:UnspecifiedMatching OMIM:603330 DNAH9 skos:exactMatch ncbigene:1770 semapv:UnspecifiedMatching -OMIM:603331 DYNC1I2 skos:exactMatch hgnc:DYNC1I2 semapv:UnspecifiedMatching +OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:2964 semapv:UnspecifiedMatching +OMIM:603331 DYNC1I2 skos:exactMatch hgnc.symbol:DYNC1I2 semapv:UnspecifiedMatching OMIM:603331 DYNC1I2 skos:exactMatch ncbigene:1781 semapv:UnspecifiedMatching -OMIM:603332 DNAH1 skos:exactMatch hgnc:DNAH1 semapv:UnspecifiedMatching +OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:2940 semapv:UnspecifiedMatching +OMIM:603332 DNAH1 skos:exactMatch hgnc.symbol:DNAH1 semapv:UnspecifiedMatching OMIM:603332 DNAH1 skos:exactMatch ncbigene:25981 semapv:UnspecifiedMatching OMIM:603333 DNAH2 skos:exactMatch UMLS:C1414099 semapv:UnspecifiedMatching OMIM:603333 DNAH2 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching -OMIM:603333 DNAH2 skos:exactMatch hgnc:DNAH2 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:2948 semapv:UnspecifiedMatching +OMIM:603333 DNAH2 skos:exactMatch hgnc.symbol:DNAH2 semapv:UnspecifiedMatching OMIM:603333 DNAH2 skos:exactMatch ncbigene:146754 semapv:UnspecifiedMatching -OMIM:603334 DNAH3 skos:exactMatch hgnc:DNAH3 semapv:UnspecifiedMatching +OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:2949 semapv:UnspecifiedMatching +OMIM:603334 DNAH3 skos:exactMatch hgnc.symbol:DNAH3 semapv:UnspecifiedMatching OMIM:603334 DNAH3 skos:exactMatch ncbigene:55567 semapv:UnspecifiedMatching -OMIM:603335 DNAH5 skos:exactMatch hgnc:DNAH5 semapv:UnspecifiedMatching +OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:2950 semapv:UnspecifiedMatching +OMIM:603335 DNAH5 skos:exactMatch hgnc.symbol:DNAH5 semapv:UnspecifiedMatching OMIM:603335 DNAH5 skos:exactMatch ncbigene:1767 semapv:UnspecifiedMatching -OMIM:603336 DNAH6 skos:exactMatch hgnc:DNAH6 semapv:UnspecifiedMatching +OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:2951 semapv:UnspecifiedMatching +OMIM:603336 DNAH6 skos:exactMatch hgnc.symbol:DNAH6 semapv:UnspecifiedMatching OMIM:603336 DNAH6 skos:exactMatch ncbigene:1768 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch UMLS:C1414103 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching -OMIM:603337 DNAH8 skos:exactMatch hgnc:DNAH8 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:2952 semapv:UnspecifiedMatching +OMIM:603337 DNAH8 skos:exactMatch hgnc.symbol:DNAH8 semapv:UnspecifiedMatching OMIM:603337 DNAH8 skos:exactMatch ncbigene:1769 semapv:UnspecifiedMatching -OMIM:603339 DNAH11 skos:exactMatch hgnc:DNAH11 semapv:UnspecifiedMatching +OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:2942 semapv:UnspecifiedMatching +OMIM:603339 DNAH11 skos:exactMatch hgnc.symbol:DNAH11 semapv:UnspecifiedMatching OMIM:603339 DNAH11 skos:exactMatch ncbigene:8701 semapv:UnspecifiedMatching -OMIM:603340 DNAH12 skos:exactMatch hgnc:DNAH12 semapv:UnspecifiedMatching +OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:2943 semapv:UnspecifiedMatching +OMIM:603340 DNAH12 skos:exactMatch hgnc.symbol:DNAH12 semapv:UnspecifiedMatching OMIM:603340 DNAH12 skos:exactMatch ncbigene:201625 semapv:UnspecifiedMatching -OMIM:603341 DNAH14 skos:exactMatch hgnc:DNAH14 semapv:UnspecifiedMatching +OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:2945 semapv:UnspecifiedMatching +OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:DNAH14 semapv:UnspecifiedMatching OMIM:603341 DNAH14 skos:exactMatch ncbigene:127602 semapv:UnspecifiedMatching -OMIM:603343 RAE1 skos:exactMatch hgnc:RAE1 semapv:UnspecifiedMatching +OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:9828 semapv:UnspecifiedMatching +OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:RAE1 semapv:UnspecifiedMatching OMIM:603343 RAE1 skos:exactMatch ncbigene:8480 semapv:UnspecifiedMatching -OMIM:603344 USO1 skos:exactMatch hgnc:USO1 semapv:UnspecifiedMatching +OMIM:603344 USO1 skos:exactMatch hgnc.symbol:30904 semapv:UnspecifiedMatching +OMIM:603344 USO1 skos:exactMatch hgnc.symbol:USO1 semapv:UnspecifiedMatching OMIM:603344 USO1 skos:exactMatch ncbigene:8615 semapv:UnspecifiedMatching -OMIM:603345 SLC4A4 skos:exactMatch hgnc:SLC4A4 semapv:UnspecifiedMatching +OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:11030 semapv:UnspecifiedMatching +OMIM:603345 SLC4A4 skos:exactMatch hgnc.symbol:SLC4A4 semapv:UnspecifiedMatching OMIM:603345 SLC4A4 skos:exactMatch ncbigene:8671 semapv:UnspecifiedMatching -OMIM:603346 NPAS1 skos:exactMatch hgnc:NPAS1 semapv:UnspecifiedMatching +OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:7894 semapv:UnspecifiedMatching +OMIM:603346 NPAS1 skos:exactMatch hgnc.symbol:NPAS1 semapv:UnspecifiedMatching OMIM:603346 NPAS1 skos:exactMatch ncbigene:4861 semapv:UnspecifiedMatching -OMIM:603347 NPAS2 skos:exactMatch hgnc:NPAS2 semapv:UnspecifiedMatching +OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:7895 semapv:UnspecifiedMatching +OMIM:603347 NPAS2 skos:exactMatch hgnc.symbol:NPAS2 semapv:UnspecifiedMatching OMIM:603347 NPAS2 skos:exactMatch ncbigene:4862 semapv:UnspecifiedMatching OMIM:603348 HIF1A skos:exactMatch UMLS:C1333897 semapv:UnspecifiedMatching -OMIM:603348 HIF1A skos:exactMatch hgnc:HIF1A semapv:UnspecifiedMatching +OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:4910 semapv:UnspecifiedMatching +OMIM:603348 HIF1A skos:exactMatch hgnc.symbol:HIF1A semapv:UnspecifiedMatching OMIM:603348 HIF1A skos:exactMatch ncbigene:3091 semapv:UnspecifiedMatching -OMIM:603349 EPAS1 skos:exactMatch hgnc:EPAS1 semapv:UnspecifiedMatching +OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:3374 semapv:UnspecifiedMatching +OMIM:603349 EPAS1 skos:exactMatch hgnc.symbol:EPAS1 semapv:UnspecifiedMatching OMIM:603349 EPAS1 skos:exactMatch ncbigene:2034 semapv:UnspecifiedMatching OMIM:603350 OAS2 skos:exactMatch UMLS:C1417913 semapv:UnspecifiedMatching -OMIM:603350 OAS2 skos:exactMatch hgnc:OAS2 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:8087 semapv:UnspecifiedMatching +OMIM:603350 OAS2 skos:exactMatch hgnc.symbol:OAS2 semapv:UnspecifiedMatching OMIM:603350 OAS2 skos:exactMatch ncbigene:4939 semapv:UnspecifiedMatching -OMIM:603351 OAS3 skos:exactMatch hgnc:OAS3 semapv:UnspecifiedMatching +OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:8088 semapv:UnspecifiedMatching +OMIM:603351 OAS3 skos:exactMatch hgnc.symbol:OAS3 semapv:UnspecifiedMatching OMIM:603351 OAS3 skos:exactMatch ncbigene:4940 semapv:UnspecifiedMatching -OMIM:603352 BIRC5 skos:exactMatch hgnc:BIRC5 semapv:UnspecifiedMatching +OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:593 semapv:UnspecifiedMatching +OMIM:603352 BIRC5 skos:exactMatch hgnc.symbol:BIRC5 semapv:UnspecifiedMatching OMIM:603352 BIRC5 skos:exactMatch ncbigene:332 semapv:UnspecifiedMatching -OMIM:603353 SLC4A7 skos:exactMatch hgnc:SLC4A7 semapv:UnspecifiedMatching +OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:11033 semapv:UnspecifiedMatching +OMIM:603353 SLC4A7 skos:exactMatch hgnc.symbol:SLC4A7 semapv:UnspecifiedMatching OMIM:603353 SLC4A7 skos:exactMatch ncbigene:9497 semapv:UnspecifiedMatching -OMIM:603354 GBX1 skos:exactMatch hgnc:GBX1 semapv:UnspecifiedMatching +OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:4185 semapv:UnspecifiedMatching +OMIM:603354 GBX1 skos:exactMatch hgnc.symbol:GBX1 semapv:UnspecifiedMatching OMIM:603354 GBX1 skos:exactMatch ncbigene:2636 semapv:UnspecifiedMatching OMIM:603355 MBTPS1 skos:exactMatch UMLS:C1423502 semapv:UnspecifiedMatching OMIM:603355 MBTPS1 skos:exactMatch UMLS:C5193071 semapv:UnspecifiedMatching -OMIM:603355 MBTPS1 skos:exactMatch hgnc:MBTPS1 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:15456 semapv:UnspecifiedMatching +OMIM:603355 MBTPS1 skos:exactMatch hgnc.symbol:MBTPS1 semapv:UnspecifiedMatching OMIM:603355 MBTPS1 skos:exactMatch ncbigene:8720 semapv:UnspecifiedMatching -OMIM:603356 CD164 skos:exactMatch hgnc:CD164 semapv:UnspecifiedMatching +OMIM:603356 CD164 skos:exactMatch hgnc.symbol:1632 semapv:UnspecifiedMatching +OMIM:603356 CD164 skos:exactMatch hgnc.symbol:CD164 semapv:UnspecifiedMatching OMIM:603356 CD164 skos:exactMatch ncbigene:8763 semapv:UnspecifiedMatching -OMIM:603357 SERPINB7 skos:exactMatch hgnc:SERPINB7 semapv:UnspecifiedMatching +OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:13902 semapv:UnspecifiedMatching +OMIM:603357 SERPINB7 skos:exactMatch hgnc.symbol:SERPINB7 semapv:UnspecifiedMatching OMIM:603357 SERPINB7 skos:exactMatch ncbigene:8710 semapv:UnspecifiedMatching -OMIM:603359 NDUFA8 skos:exactMatch hgnc:NDUFA8 semapv:UnspecifiedMatching +OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:7692 semapv:UnspecifiedMatching +OMIM:603359 NDUFA8 skos:exactMatch hgnc.symbol:NDUFA8 semapv:UnspecifiedMatching OMIM:603359 NDUFA8 skos:exactMatch ncbigene:4702 semapv:UnspecifiedMatching -OMIM:603360 PEX16 skos:exactMatch hgnc:PEX16 semapv:UnspecifiedMatching +OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:8857 semapv:UnspecifiedMatching +OMIM:603360 PEX16 skos:exactMatch hgnc.symbol:PEX16 semapv:UnspecifiedMatching OMIM:603360 PEX16 skos:exactMatch ncbigene:9409 semapv:UnspecifiedMatching -OMIM:603361 TNFRSF6B skos:exactMatch hgnc:TNFRSF6B semapv:UnspecifiedMatching +OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:11921 semapv:UnspecifiedMatching +OMIM:603361 TNFRSF6B skos:exactMatch hgnc.symbol:TNFRSF6B semapv:UnspecifiedMatching OMIM:603361 TNFRSF6B skos:exactMatch ncbigene:8771 semapv:UnspecifiedMatching -OMIM:603362 SH3GL3 skos:exactMatch hgnc:SH3GL3 semapv:UnspecifiedMatching +OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:10832 semapv:UnspecifiedMatching +OMIM:603362 SH3GL3 skos:exactMatch hgnc.symbol:SH3GL3 semapv:UnspecifiedMatching OMIM:603362 SH3GL3 skos:exactMatch ncbigene:6457 semapv:UnspecifiedMatching -OMIM:603363 CGGBP1 skos:exactMatch hgnc:CGGBP1 semapv:UnspecifiedMatching +OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:1888 semapv:UnspecifiedMatching +OMIM:603363 CGGBP1 skos:exactMatch hgnc.symbol:CGGBP1 semapv:UnspecifiedMatching OMIM:603363 CGGBP1 skos:exactMatch ncbigene:8545 semapv:UnspecifiedMatching -OMIM:603364 SRSF3 skos:exactMatch hgnc:SRSF3 semapv:UnspecifiedMatching +OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:10785 semapv:UnspecifiedMatching +OMIM:603364 SRSF3 skos:exactMatch hgnc.symbol:SRSF3 semapv:UnspecifiedMatching OMIM:603364 SRSF3 skos:exactMatch ncbigene:6428 semapv:UnspecifiedMatching -OMIM:603365 HIRIP3 skos:exactMatch hgnc:HIRIP3 semapv:UnspecifiedMatching +OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:4917 semapv:UnspecifiedMatching +OMIM:603365 HIRIP3 skos:exactMatch hgnc.symbol:HIRIP3 semapv:UnspecifiedMatching OMIM:603365 HIRIP3 skos:exactMatch ncbigene:8479 semapv:UnspecifiedMatching -OMIM:603366 TNFRSF25 skos:exactMatch hgnc:TNFRSF25 semapv:UnspecifiedMatching +OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:11910 semapv:UnspecifiedMatching +OMIM:603366 TNFRSF25 skos:exactMatch hgnc.symbol:TNFRSF25 semapv:UnspecifiedMatching OMIM:603366 TNFRSF25 skos:exactMatch ncbigene:8718 semapv:UnspecifiedMatching -OMIM:603368 CDK6 skos:exactMatch hgnc:CDK6 semapv:UnspecifiedMatching +OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:1777 semapv:UnspecifiedMatching +OMIM:603368 CDK6 skos:exactMatch hgnc.symbol:CDK6 semapv:UnspecifiedMatching OMIM:603368 CDK6 skos:exactMatch ncbigene:1021 semapv:UnspecifiedMatching -OMIM:603369 CDKN2C skos:exactMatch hgnc:CDKN2C semapv:UnspecifiedMatching +OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:1789 semapv:UnspecifiedMatching +OMIM:603369 CDKN2C skos:exactMatch hgnc.symbol:CDKN2C semapv:UnspecifiedMatching OMIM:603369 CDKN2C skos:exactMatch ncbigene:1031 semapv:UnspecifiedMatching OMIM:603370 UGDH skos:exactMatch UMLS:C1442771 semapv:UnspecifiedMatching OMIM:603370 UGDH skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching -OMIM:603370 UGDH skos:exactMatch hgnc:UGDH semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch hgnc.symbol:12525 semapv:UnspecifiedMatching +OMIM:603370 UGDH skos:exactMatch hgnc.symbol:UGDH semapv:UnspecifiedMatching OMIM:603370 UGDH skos:exactMatch ncbigene:7358 semapv:UnspecifiedMatching -OMIM:603371 GLE1 skos:exactMatch hgnc:GLE1 semapv:UnspecifiedMatching +OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:4315 semapv:UnspecifiedMatching +OMIM:603371 GLE1 skos:exactMatch hgnc.symbol:GLE1 semapv:UnspecifiedMatching OMIM:603371 GLE1 skos:exactMatch ncbigene:2733 semapv:UnspecifiedMatching -OMIM:603372 TSHR skos:exactMatch hgnc:TSHR semapv:UnspecifiedMatching +OMIM:603372 TSHR skos:exactMatch hgnc.symbol:12373 semapv:UnspecifiedMatching +OMIM:603372 TSHR skos:exactMatch hgnc.symbol:TSHR semapv:UnspecifiedMatching OMIM:603372 TSHR skos:exactMatch ncbigene:7253 semapv:UnspecifiedMatching +OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch Orphanet:99819 semapv:UnspecifiedMatching OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch UMLS:C1863959 semapv:UnspecifiedMatching -OMIM:603373 hyperthyroidism, familial gestational skos:exactMatch orphanet.ordo:99819 semapv:UnspecifiedMatching -OMIM:603375 SMARCA5 skos:exactMatch hgnc:SMARCA5 semapv:UnspecifiedMatching +OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:11101 semapv:UnspecifiedMatching +OMIM:603375 SMARCA5 skos:exactMatch hgnc.symbol:SMARCA5 semapv:UnspecifiedMatching OMIM:603375 SMARCA5 skos:exactMatch ncbigene:8467 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch UMLS:C1420140 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:603377 SLC22A5 skos:exactMatch hgnc:SLC22A5 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:10969 semapv:UnspecifiedMatching +OMIM:603377 SLC22A5 skos:exactMatch hgnc.symbol:SLC22A5 semapv:UnspecifiedMatching OMIM:603377 SLC22A5 skos:exactMatch ncbigene:6584 semapv:UnspecifiedMatching -OMIM:603378 SAP30 skos:exactMatch hgnc:SAP30 semapv:UnspecifiedMatching +OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:10532 semapv:UnspecifiedMatching +OMIM:603378 SAP30 skos:exactMatch hgnc.symbol:SAP30 semapv:UnspecifiedMatching OMIM:603378 SAP30 skos:exactMatch ncbigene:8819 semapv:UnspecifiedMatching -OMIM:603379 IQGAP1 skos:exactMatch hgnc:IQGAP1 semapv:UnspecifiedMatching +OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:6110 semapv:UnspecifiedMatching +OMIM:603379 IQGAP1 skos:exactMatch hgnc.symbol:IQGAP1 semapv:UnspecifiedMatching OMIM:603379 IQGAP1 skos:exactMatch ncbigene:8826 semapv:UnspecifiedMatching -OMIM:603380 LIN7A skos:exactMatch hgnc:LIN7A semapv:UnspecifiedMatching +OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:17787 semapv:UnspecifiedMatching +OMIM:603380 LIN7A skos:exactMatch hgnc.symbol:LIN7A semapv:UnspecifiedMatching OMIM:603380 LIN7A skos:exactMatch ncbigene:8825 semapv:UnspecifiedMatching -OMIM:603381 FLNB skos:exactMatch hgnc:FLNB semapv:UnspecifiedMatching +OMIM:603381 FLNB skos:exactMatch hgnc.symbol:3755 semapv:UnspecifiedMatching +OMIM:603381 FLNB skos:exactMatch hgnc.symbol:FLNB semapv:UnspecifiedMatching OMIM:603381 FLNB skos:exactMatch ncbigene:2317 semapv:UnspecifiedMatching -OMIM:603382 MSH5 skos:exactMatch hgnc:MSH5 semapv:UnspecifiedMatching +OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:7328 semapv:UnspecifiedMatching +OMIM:603382 MSH5 skos:exactMatch hgnc.symbol:MSH5 semapv:UnspecifiedMatching OMIM:603382 MSH5 skos:exactMatch ncbigene:4439 semapv:UnspecifiedMatching OMIM:603383 glaucoma 1, open angle, f skos:exactMatch UMLS:C1863926 semapv:UnspecifiedMatching -OMIM:603384 SYNGAP1 skos:exactMatch hgnc:SYNGAP1 semapv:UnspecifiedMatching +OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:11497 semapv:UnspecifiedMatching +OMIM:603384 SYNGAP1 skos:exactMatch hgnc.symbol:SYNGAP1 semapv:UnspecifiedMatching OMIM:603384 SYNGAP1 skos:exactMatch ncbigene:8831 semapv:UnspecifiedMatching -OMIM:603385 NAE1 skos:exactMatch hgnc:NAE1 semapv:UnspecifiedMatching +OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:621 semapv:UnspecifiedMatching +OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:NAE1 semapv:UnspecifiedMatching OMIM:603385 NAE1 skos:exactMatch ncbigene:8883 semapv:UnspecifiedMatching -OMIM:603390 PDE8B skos:exactMatch hgnc:PDE8B semapv:UnspecifiedMatching +OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:8794 semapv:UnspecifiedMatching +OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:PDE8B semapv:UnspecifiedMatching OMIM:603390 PDE8B skos:exactMatch ncbigene:8622 semapv:UnspecifiedMatching -OMIM:603392 BIK skos:exactMatch hgnc:BIK semapv:UnspecifiedMatching +OMIM:603392 BIK skos:exactMatch hgnc.symbol:1051 semapv:UnspecifiedMatching +OMIM:603392 BIK skos:exactMatch hgnc.symbol:BIK semapv:UnspecifiedMatching OMIM:603392 BIK skos:exactMatch ncbigene:638 semapv:UnspecifiedMatching -OMIM:603395 SPAG1 skos:exactMatch hgnc:SPAG1 semapv:UnspecifiedMatching +OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:11212 semapv:UnspecifiedMatching +OMIM:603395 SPAG1 skos:exactMatch hgnc.symbol:SPAG1 semapv:UnspecifiedMatching OMIM:603395 SPAG1 skos:exactMatch ncbigene:6674 semapv:UnspecifiedMatching -OMIM:603397 ZNF282 skos:exactMatch hgnc:ZNF282 semapv:UnspecifiedMatching +OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:13076 semapv:UnspecifiedMatching +OMIM:603397 ZNF282 skos:exactMatch hgnc.symbol:ZNF282 semapv:UnspecifiedMatching OMIM:603397 ZNF282 skos:exactMatch ncbigene:8427 semapv:UnspecifiedMatching -OMIM:603398 CCN4 skos:exactMatch hgnc:CCN4 semapv:UnspecifiedMatching +OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:12769 semapv:UnspecifiedMatching +OMIM:603398 CCN4 skos:exactMatch hgnc.symbol:CCN4 semapv:UnspecifiedMatching OMIM:603398 CCN4 skos:exactMatch ncbigene:8840 semapv:UnspecifiedMatching -OMIM:603399 CCN5 skos:exactMatch hgnc:CCN5 semapv:UnspecifiedMatching +OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:12770 semapv:UnspecifiedMatching +OMIM:603399 CCN5 skos:exactMatch hgnc.symbol:CCN5 semapv:UnspecifiedMatching OMIM:603399 CCN5 skos:exactMatch ncbigene:8839 semapv:UnspecifiedMatching OMIM:603400 CCN6 skos:exactMatch UMLS:C1421509 semapv:UnspecifiedMatching OMIM:603400 CCN6 skos:exactMatch UMLS:C5436955 semapv:UnspecifiedMatching -OMIM:603400 CCN6 skos:exactMatch hgnc:CCN6 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:12771 semapv:UnspecifiedMatching +OMIM:603400 CCN6 skos:exactMatch hgnc.symbol:CCN6 semapv:UnspecifiedMatching OMIM:603400 CCN6 skos:exactMatch ncbigene:8838 semapv:UnspecifiedMatching -OMIM:603401 AP3B1 skos:exactMatch hgnc:AP3B1 semapv:UnspecifiedMatching +OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:566 semapv:UnspecifiedMatching +OMIM:603401 AP3B1 skos:exactMatch hgnc.symbol:AP3B1 semapv:UnspecifiedMatching OMIM:603401 AP3B1 skos:exactMatch ncbigene:8546 semapv:UnspecifiedMatching -OMIM:603402 ACOX3 skos:exactMatch hgnc:ACOX3 semapv:UnspecifiedMatching +OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:121 semapv:UnspecifiedMatching +OMIM:603402 ACOX3 skos:exactMatch hgnc.symbol:ACOX3 semapv:UnspecifiedMatching OMIM:603402 ACOX3 skos:exactMatch ncbigene:8310 semapv:UnspecifiedMatching OMIM:603403 DHX15 skos:exactMatch UMLS:C1413955 semapv:UnspecifiedMatching -OMIM:603403 DHX15 skos:exactMatch hgnc:DHX15 semapv:UnspecifiedMatching +OMIM:603403 DHX15 skos:exactMatch hgnc.symbol:2738 semapv:UnspecifiedMatching +OMIM:603403 DHX15 skos:exactMatch hgnc.symbol:DHX15 semapv:UnspecifiedMatching OMIM:603403 DHX15 skos:exactMatch ncbigene:1665 semapv:UnspecifiedMatching -OMIM:603404 ZNF169 skos:exactMatch hgnc:ZNF169 semapv:UnspecifiedMatching +OMIM:603404 ZNF169 skos:exactMatch hgnc.symbol:12957 semapv:UnspecifiedMatching +OMIM:603404 ZNF169 skos:exactMatch hgnc.symbol:ZNF169 semapv:UnspecifiedMatching OMIM:603404 ZNF169 skos:exactMatch ncbigene:169841 semapv:UnspecifiedMatching OMIM:603405 DHX16 skos:exactMatch UMLS:C1333208 semapv:UnspecifiedMatching OMIM:603405 DHX16 skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching -OMIM:603405 DHX16 skos:exactMatch hgnc:DHX16 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch hgnc.symbol:2739 semapv:UnspecifiedMatching +OMIM:603405 DHX16 skos:exactMatch hgnc.symbol:DHX16 semapv:UnspecifiedMatching OMIM:603405 DHX16 skos:exactMatch ncbigene:8449 semapv:UnspecifiedMatching -OMIM:603406 TRIM24 skos:exactMatch hgnc:TRIM24 semapv:UnspecifiedMatching +OMIM:603406 TRIM24 skos:exactMatch hgnc.symbol:11812 semapv:UnspecifiedMatching +OMIM:603406 TRIM24 skos:exactMatch hgnc.symbol:TRIM24 semapv:UnspecifiedMatching OMIM:603406 TRIM24 skos:exactMatch ncbigene:8805 semapv:UnspecifiedMatching -OMIM:603407 PABPC4 skos:exactMatch hgnc:PABPC4 semapv:UnspecifiedMatching +OMIM:603407 PABPC4 skos:exactMatch hgnc.symbol:8557 semapv:UnspecifiedMatching +OMIM:603407 PABPC4 skos:exactMatch hgnc.symbol:PABPC4 semapv:UnspecifiedMatching OMIM:603407 PABPC4 skos:exactMatch ncbigene:8761 semapv:UnspecifiedMatching -OMIM:603408 FZD1 skos:exactMatch hgnc:FZD1 semapv:UnspecifiedMatching +OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:4038 semapv:UnspecifiedMatching +OMIM:603408 FZD1 skos:exactMatch hgnc.symbol:FZD1 semapv:UnspecifiedMatching OMIM:603408 FZD1 skos:exactMatch ncbigene:8321 semapv:UnspecifiedMatching OMIM:603409 FZD6 skos:exactMatch UMLS:C0406443 semapv:UnspecifiedMatching OMIM:603409 FZD6 skos:exactMatch UMLS:C1333587 semapv:UnspecifiedMatching -OMIM:603409 FZD6 skos:exactMatch hgnc:FZD6 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:4044 semapv:UnspecifiedMatching +OMIM:603409 FZD6 skos:exactMatch hgnc.symbol:FZD6 semapv:UnspecifiedMatching OMIM:603409 FZD6 skos:exactMatch ncbigene:8323 semapv:UnspecifiedMatching -OMIM:603410 FZD7 skos:exactMatch hgnc:FZD7 semapv:UnspecifiedMatching +OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:4045 semapv:UnspecifiedMatching +OMIM:603410 FZD7 skos:exactMatch hgnc.symbol:FZD7 semapv:UnspecifiedMatching OMIM:603410 FZD7 skos:exactMatch ncbigene:8324 semapv:UnspecifiedMatching -OMIM:603412 CDC42BPA skos:exactMatch hgnc:CDC42BPA semapv:UnspecifiedMatching +OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:1737 semapv:UnspecifiedMatching +OMIM:603412 CDC42BPA skos:exactMatch hgnc.symbol:CDC42BPA semapv:UnspecifiedMatching OMIM:603412 CDC42BPA skos:exactMatch ncbigene:8476 semapv:UnspecifiedMatching -OMIM:603413 TIAL1 skos:exactMatch hgnc:TIAL1 semapv:UnspecifiedMatching +OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:11804 semapv:UnspecifiedMatching +OMIM:603413 TIAL1 skos:exactMatch hgnc.symbol:TIAL1 semapv:UnspecifiedMatching OMIM:603413 TIAL1 skos:exactMatch ncbigene:7073 semapv:UnspecifiedMatching -OMIM:603414 TM7SF2 skos:exactMatch hgnc:TM7SF2 semapv:UnspecifiedMatching +OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:11863 semapv:UnspecifiedMatching +OMIM:603414 TM7SF2 skos:exactMatch hgnc.symbol:TM7SF2 semapv:UnspecifiedMatching OMIM:603414 TM7SF2 skos:exactMatch ncbigene:7108 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C0014805 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C1419867 semapv:UnspecifiedMatching @@ -15773,193 +21528,278 @@ OMIM:603415 SCN9A skos:exactMatch UMLS:C1855739 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C3276706 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C4012054 semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:603415 SCN9A skos:exactMatch hgnc:SCN9A semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:10597 semapv:UnspecifiedMatching +OMIM:603415 SCN9A skos:exactMatch hgnc.symbol:SCN9A semapv:UnspecifiedMatching OMIM:603415 SCN9A skos:exactMatch ncbigene:6335 semapv:UnspecifiedMatching -OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc:RPL21P1 semapv:UnspecifiedMatching -OMIM:603417 RABIF skos:exactMatch hgnc:RABIF semapv:UnspecifiedMatching +OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:10314 semapv:UnspecifiedMatching +OMIM:603416 ribosomal protein l21 pseudogene 1 skos:exactMatch hgnc.symbol:RPL21P1 semapv:UnspecifiedMatching +OMIM:603417 RABIF skos:exactMatch hgnc.symbol:9797 semapv:UnspecifiedMatching +OMIM:603417 RABIF skos:exactMatch hgnc.symbol:RABIF semapv:UnspecifiedMatching OMIM:603417 RABIF skos:exactMatch ncbigene:5877 semapv:UnspecifiedMatching -OMIM:603418 AKR7A2 skos:exactMatch hgnc:AKR7A2 semapv:UnspecifiedMatching +OMIM:603418 AKR7A2 skos:exactMatch hgnc.symbol:389 semapv:UnspecifiedMatching +OMIM:603418 AKR7A2 skos:exactMatch hgnc.symbol:AKR7A2 semapv:UnspecifiedMatching OMIM:603418 AKR7A2 skos:exactMatch ncbigene:8574 semapv:UnspecifiedMatching -OMIM:603419 SGTA skos:exactMatch hgnc:SGTA semapv:UnspecifiedMatching +OMIM:603419 SGTA skos:exactMatch hgnc.symbol:10819 semapv:UnspecifiedMatching +OMIM:603419 SGTA skos:exactMatch hgnc.symbol:SGTA semapv:UnspecifiedMatching OMIM:603419 SGTA skos:exactMatch ncbigene:6449 semapv:UnspecifiedMatching -OMIM:603420 CALU skos:exactMatch hgnc:CALU semapv:UnspecifiedMatching +OMIM:603420 CALU skos:exactMatch hgnc.symbol:1458 semapv:UnspecifiedMatching +OMIM:603420 CALU skos:exactMatch hgnc.symbol:CALU semapv:UnspecifiedMatching OMIM:603420 CALU skos:exactMatch ncbigene:813 semapv:UnspecifiedMatching -OMIM:603421 TMEFF1 skos:exactMatch hgnc:TMEFF1 semapv:UnspecifiedMatching +OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:11866 semapv:UnspecifiedMatching +OMIM:603421 TMEFF1 skos:exactMatch hgnc.symbol:TMEFF1 semapv:UnspecifiedMatching OMIM:603421 TMEFF1 skos:exactMatch ncbigene:8577 semapv:UnspecifiedMatching -OMIM:603422 PDLIM4 skos:exactMatch hgnc:PDLIM4 semapv:UnspecifiedMatching +OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:16501 semapv:UnspecifiedMatching +OMIM:603422 PDLIM4 skos:exactMatch hgnc.symbol:PDLIM4 semapv:UnspecifiedMatching OMIM:603422 PDLIM4 skos:exactMatch ncbigene:8572 semapv:UnspecifiedMatching OMIM:603423 PRDM1 skos:exactMatch UMLS:C1335253 semapv:UnspecifiedMatching -OMIM:603423 PRDM1 skos:exactMatch hgnc:PRDM1 semapv:UnspecifiedMatching +OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:9346 semapv:UnspecifiedMatching +OMIM:603423 PRDM1 skos:exactMatch hgnc.symbol:PRDM1 semapv:UnspecifiedMatching OMIM:603423 PRDM1 skos:exactMatch ncbigene:639 semapv:UnspecifiedMatching -OMIM:603424 PRKRA skos:exactMatch hgnc:PRKRA semapv:UnspecifiedMatching +OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:9438 semapv:UnspecifiedMatching +OMIM:603424 PRKRA skos:exactMatch hgnc.symbol:PRKRA semapv:UnspecifiedMatching OMIM:603424 PRKRA skos:exactMatch ncbigene:8575 semapv:UnspecifiedMatching OMIM:603425 ARL1 skos:exactMatch UMLS:C1412536 semapv:UnspecifiedMatching -OMIM:603425 ARL1 skos:exactMatch hgnc:ARL1 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:692 semapv:UnspecifiedMatching +OMIM:603425 ARL1 skos:exactMatch hgnc.symbol:ARL1 semapv:UnspecifiedMatching OMIM:603425 ARL1 skos:exactMatch ncbigene:400 semapv:UnspecifiedMatching -OMIM:603426 PER2 skos:exactMatch hgnc:PER2 semapv:UnspecifiedMatching +OMIM:603426 PER2 skos:exactMatch hgnc.symbol:8846 semapv:UnspecifiedMatching +OMIM:603426 PER2 skos:exactMatch hgnc.symbol:PER2 semapv:UnspecifiedMatching OMIM:603426 PER2 skos:exactMatch ncbigene:8864 semapv:UnspecifiedMatching -OMIM:603427 PER3 skos:exactMatch hgnc:PER3 semapv:UnspecifiedMatching +OMIM:603427 PER3 skos:exactMatch hgnc.symbol:8847 semapv:UnspecifiedMatching +OMIM:603427 PER3 skos:exactMatch hgnc.symbol:PER3 semapv:UnspecifiedMatching OMIM:603427 PER3 skos:exactMatch ncbigene:8863 semapv:UnspecifiedMatching -OMIM:603428 ZNF207 skos:exactMatch hgnc:ZNF207 semapv:UnspecifiedMatching +OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:12998 semapv:UnspecifiedMatching +OMIM:603428 ZNF207 skos:exactMatch hgnc.symbol:ZNF207 semapv:UnspecifiedMatching OMIM:603428 ZNF207 skos:exactMatch ncbigene:7756 semapv:UnspecifiedMatching -OMIM:603429 ABCF1 skos:exactMatch hgnc:ABCF1 semapv:UnspecifiedMatching +OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:70 semapv:UnspecifiedMatching +OMIM:603429 ABCF1 skos:exactMatch hgnc.symbol:ABCF1 semapv:UnspecifiedMatching OMIM:603429 ABCF1 skos:exactMatch ncbigene:23 semapv:UnspecifiedMatching -OMIM:603430 ZNF202 skos:exactMatch hgnc:ZNF202 semapv:UnspecifiedMatching +OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:12994 semapv:UnspecifiedMatching +OMIM:603430 ZNF202 skos:exactMatch hgnc.symbol:ZNF202 semapv:UnspecifiedMatching OMIM:603430 ZNF202 skos:exactMatch ncbigene:7753 semapv:UnspecifiedMatching -OMIM:603431 EIF4H skos:exactMatch hgnc:EIF4H semapv:UnspecifiedMatching +OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:12741 semapv:UnspecifiedMatching +OMIM:603431 EIF4H skos:exactMatch hgnc.symbol:EIF4H semapv:UnspecifiedMatching OMIM:603431 EIF4H skos:exactMatch ncbigene:7458 semapv:UnspecifiedMatching -OMIM:603432 CLIP2 skos:exactMatch hgnc:CLIP2 semapv:UnspecifiedMatching +OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:2586 semapv:UnspecifiedMatching +OMIM:603432 CLIP2 skos:exactMatch hgnc.symbol:CLIP2 semapv:UnspecifiedMatching OMIM:603432 CLIP2 skos:exactMatch ncbigene:7461 semapv:UnspecifiedMatching -OMIM:603433 ZNF143 skos:exactMatch hgnc:ZNF143 semapv:UnspecifiedMatching +OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:12928 semapv:UnspecifiedMatching +OMIM:603433 ZNF143 skos:exactMatch hgnc.symbol:ZNF143 semapv:UnspecifiedMatching OMIM:603433 ZNF143 skos:exactMatch ncbigene:7702 semapv:UnspecifiedMatching -OMIM:603434 PEA15 skos:exactMatch hgnc:PEA15 semapv:UnspecifiedMatching +OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:8822 semapv:UnspecifiedMatching +OMIM:603434 PEA15 skos:exactMatch hgnc.symbol:PEA15 semapv:UnspecifiedMatching OMIM:603434 PEA15 skos:exactMatch ncbigene:8682 semapv:UnspecifiedMatching -OMIM:603435 GPX5 skos:exactMatch hgnc:GPX5 semapv:UnspecifiedMatching +OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:4557 semapv:UnspecifiedMatching +OMIM:603435 GPX5 skos:exactMatch hgnc.symbol:GPX5 semapv:UnspecifiedMatching OMIM:603435 GPX5 skos:exactMatch ncbigene:2880 semapv:UnspecifiedMatching -OMIM:603436 ZNF205 skos:exactMatch hgnc:ZNF205 semapv:UnspecifiedMatching +OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:12996 semapv:UnspecifiedMatching +OMIM:603436 ZNF205 skos:exactMatch hgnc.symbol:ZNF205 semapv:UnspecifiedMatching OMIM:603436 ZNF205 skos:exactMatch ncbigene:7755 semapv:UnspecifiedMatching -OMIM:603437 YBX3 skos:exactMatch hgnc:YBX3 semapv:UnspecifiedMatching +OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:2428 semapv:UnspecifiedMatching +OMIM:603437 YBX3 skos:exactMatch hgnc.symbol:YBX3 semapv:UnspecifiedMatching OMIM:603437 YBX3 skos:exactMatch ncbigene:8531 semapv:UnspecifiedMatching -OMIM:603440 CDK17 skos:exactMatch hgnc:CDK17 semapv:UnspecifiedMatching +OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:8750 semapv:UnspecifiedMatching +OMIM:603440 CDK17 skos:exactMatch hgnc.symbol:CDK17 semapv:UnspecifiedMatching OMIM:603440 CDK17 skos:exactMatch ncbigene:5128 semapv:UnspecifiedMatching -OMIM:603441 CDKL1 skos:exactMatch hgnc:CDKL1 semapv:UnspecifiedMatching +OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:1781 semapv:UnspecifiedMatching +OMIM:603441 CDKL1 skos:exactMatch hgnc.symbol:CDKL1 semapv:UnspecifiedMatching OMIM:603441 CDKL1 skos:exactMatch ncbigene:8814 semapv:UnspecifiedMatching -OMIM:603442 CDKL2 skos:exactMatch hgnc:CDKL2 semapv:UnspecifiedMatching +OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:1782 semapv:UnspecifiedMatching +OMIM:603442 CDKL2 skos:exactMatch hgnc.symbol:CDKL2 semapv:UnspecifiedMatching OMIM:603442 CDKL2 skos:exactMatch ncbigene:8999 semapv:UnspecifiedMatching -OMIM:603443 VPS52 skos:exactMatch hgnc:VPS52 semapv:UnspecifiedMatching +OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:10518 semapv:UnspecifiedMatching +OMIM:603443 VPS52 skos:exactMatch hgnc.symbol:VPS52 semapv:UnspecifiedMatching OMIM:603443 VPS52 skos:exactMatch ncbigene:6293 semapv:UnspecifiedMatching -OMIM:603444 FUBP1 skos:exactMatch hgnc:FUBP1 semapv:UnspecifiedMatching +OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:4004 semapv:UnspecifiedMatching +OMIM:603444 FUBP1 skos:exactMatch hgnc.symbol:FUBP1 semapv:UnspecifiedMatching OMIM:603444 FUBP1 skos:exactMatch ncbigene:8880 semapv:UnspecifiedMatching -OMIM:603445 KHSRP skos:exactMatch hgnc:KHSRP semapv:UnspecifiedMatching +OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:6316 semapv:UnspecifiedMatching +OMIM:603445 KHSRP skos:exactMatch hgnc.symbol:KHSRP semapv:UnspecifiedMatching OMIM:603445 KHSRP skos:exactMatch ncbigene:8570 semapv:UnspecifiedMatching -OMIM:603447 HRK skos:exactMatch hgnc:HRK semapv:UnspecifiedMatching +OMIM:603447 HRK skos:exactMatch hgnc.symbol:5185 semapv:UnspecifiedMatching +OMIM:603447 HRK skos:exactMatch hgnc.symbol:HRK semapv:UnspecifiedMatching OMIM:603447 HRK skos:exactMatch ncbigene:8739 semapv:UnspecifiedMatching -OMIM:603448 DAB1 skos:exactMatch hgnc:DAB1 semapv:UnspecifiedMatching +OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:2661 semapv:UnspecifiedMatching +OMIM:603448 DAB1 skos:exactMatch hgnc.symbol:DAB1 semapv:UnspecifiedMatching OMIM:603448 DAB1 skos:exactMatch ncbigene:1600 semapv:UnspecifiedMatching -OMIM:603449 RUVBL1 skos:exactMatch hgnc:RUVBL1 semapv:UnspecifiedMatching +OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:10474 semapv:UnspecifiedMatching +OMIM:603449 RUVBL1 skos:exactMatch hgnc.symbol:RUVBL1 semapv:UnspecifiedMatching OMIM:603449 RUVBL1 skos:exactMatch ncbigene:8607 semapv:UnspecifiedMatching -OMIM:603450 LDB2 skos:exactMatch hgnc:LDB2 semapv:UnspecifiedMatching +OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:6533 semapv:UnspecifiedMatching +OMIM:603450 LDB2 skos:exactMatch hgnc.symbol:LDB2 semapv:UnspecifiedMatching OMIM:603450 LDB2 skos:exactMatch ncbigene:9079 semapv:UnspecifiedMatching -OMIM:603451 LDB1 skos:exactMatch hgnc:LDB1 semapv:UnspecifiedMatching +OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:6532 semapv:UnspecifiedMatching +OMIM:603451 LDB1 skos:exactMatch hgnc.symbol:LDB1 semapv:UnspecifiedMatching OMIM:603451 LDB1 skos:exactMatch ncbigene:8861 semapv:UnspecifiedMatching OMIM:603453 RIPK1 skos:exactMatch UMLS:C1335623 semapv:UnspecifiedMatching OMIM:603453 RIPK1 skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching OMIM:603453 RIPK1 skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching -OMIM:603453 RIPK1 skos:exactMatch hgnc:RIPK1 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:10019 semapv:UnspecifiedMatching +OMIM:603453 RIPK1 skos:exactMatch hgnc.symbol:RIPK1 semapv:UnspecifiedMatching OMIM:603453 RIPK1 skos:exactMatch ncbigene:8737 semapv:UnspecifiedMatching -OMIM:603454 CRADD skos:exactMatch hgnc:CRADD semapv:UnspecifiedMatching +OMIM:603454 CRADD skos:exactMatch hgnc.symbol:2340 semapv:UnspecifiedMatching +OMIM:603454 CRADD skos:exactMatch hgnc.symbol:CRADD semapv:UnspecifiedMatching OMIM:603454 CRADD skos:exactMatch ncbigene:8738 semapv:UnspecifiedMatching -OMIM:603455 RIPK2 skos:exactMatch hgnc:RIPK2 semapv:UnspecifiedMatching +OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:10020 semapv:UnspecifiedMatching +OMIM:603455 RIPK2 skos:exactMatch hgnc.symbol:RIPK2 semapv:UnspecifiedMatching OMIM:603455 RIPK2 skos:exactMatch ncbigene:8767 semapv:UnspecifiedMatching -OMIM:603456 DPH2 skos:exactMatch hgnc:DPH2 semapv:UnspecifiedMatching +OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:3004 semapv:UnspecifiedMatching +OMIM:603456 DPH2 skos:exactMatch hgnc.symbol:DPH2 semapv:UnspecifiedMatching OMIM:603456 DPH2 skos:exactMatch ncbigene:1802 semapv:UnspecifiedMatching OMIM:603458 ELAVL3 skos:exactMatch UMLS:C1414373 semapv:UnspecifiedMatching -OMIM:603458 ELAVL3 skos:exactMatch hgnc:ELAVL3 semapv:UnspecifiedMatching +OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:3314 semapv:UnspecifiedMatching +OMIM:603458 ELAVL3 skos:exactMatch hgnc.symbol:ELAVL3 semapv:UnspecifiedMatching OMIM:603458 ELAVL3 skos:exactMatch ncbigene:1995 semapv:UnspecifiedMatching OMIM:603460 CDK5R1 skos:exactMatch UMLS:C1413285 semapv:UnspecifiedMatching -OMIM:603460 CDK5R1 skos:exactMatch hgnc:CDK5R1 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:1775 semapv:UnspecifiedMatching +OMIM:603460 CDK5R1 skos:exactMatch hgnc.symbol:CDK5R1 semapv:UnspecifiedMatching OMIM:603460 CDK5R1 skos:exactMatch ncbigene:8851 semapv:UnspecifiedMatching -OMIM:603461 CDC16 skos:exactMatch hgnc:CDC16 semapv:UnspecifiedMatching +OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:1720 semapv:UnspecifiedMatching +OMIM:603461 CDC16 skos:exactMatch hgnc.symbol:CDC16 semapv:UnspecifiedMatching OMIM:603461 CDC16 skos:exactMatch ncbigene:8881 semapv:UnspecifiedMatching -OMIM:603462 CDC23 skos:exactMatch hgnc:CDC23 semapv:UnspecifiedMatching +OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:1724 semapv:UnspecifiedMatching +OMIM:603462 CDC23 skos:exactMatch hgnc.symbol:CDC23 semapv:UnspecifiedMatching OMIM:603462 CDC23 skos:exactMatch ncbigene:8697 semapv:UnspecifiedMatching -OMIM:603464 CDK10 skos:exactMatch hgnc:CDK10 semapv:UnspecifiedMatching +OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:1770 semapv:UnspecifiedMatching +OMIM:603464 CDK10 skos:exactMatch hgnc.symbol:CDK10 semapv:UnspecifiedMatching OMIM:603464 CDK10 skos:exactMatch ncbigene:8558 semapv:UnspecifiedMatching OMIM:603465 CDC45 skos:exactMatch UMLS:C1332724 semapv:UnspecifiedMatching OMIM:603465 CDC45 skos:exactMatch UMLS:C4310738 semapv:UnspecifiedMatching -OMIM:603465 CDC45 skos:exactMatch hgnc:CDC45 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:1739 semapv:UnspecifiedMatching +OMIM:603465 CDC45 skos:exactMatch hgnc.symbol:CDC45 semapv:UnspecifiedMatching OMIM:603465 CDC45 skos:exactMatch ncbigene:8318 semapv:UnspecifiedMatching OMIM:603466 ELAVL1 skos:exactMatch UMLS:C1414371 semapv:UnspecifiedMatching -OMIM:603466 ELAVL1 skos:exactMatch hgnc:ELAVL1 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:3312 semapv:UnspecifiedMatching +OMIM:603466 ELAVL1 skos:exactMatch hgnc.symbol:ELAVL1 semapv:UnspecifiedMatching OMIM:603466 ELAVL1 skos:exactMatch ncbigene:1994 semapv:UnspecifiedMatching -OMIM:603470 ASS1 skos:exactMatch hgnc:ASS1 semapv:UnspecifiedMatching +OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:758 semapv:UnspecifiedMatching +OMIM:603470 ASS1 skos:exactMatch hgnc.symbol:ASS1 semapv:UnspecifiedMatching OMIM:603470 ASS1 skos:exactMatch ncbigene:445 semapv:UnspecifiedMatching +OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 semapv:UnspecifiedMatching OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching -OMIM:603472 neuronal intranuclear inclusion disease skos:exactMatch orphanet.ordo:2289 semapv:UnspecifiedMatching OMIM:603473 LATS1 skos:exactMatch UMLS:C1367460 semapv:UnspecifiedMatching -OMIM:603473 LATS1 skos:exactMatch hgnc:LATS1 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:6514 semapv:UnspecifiedMatching +OMIM:603473 LATS1 skos:exactMatch hgnc.symbol:LATS1 semapv:UnspecifiedMatching OMIM:603473 LATS1 skos:exactMatch ncbigene:9113 semapv:UnspecifiedMatching -OMIM:603474 RPS19 skos:exactMatch hgnc:RPS19 semapv:UnspecifiedMatching +OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:10402 semapv:UnspecifiedMatching +OMIM:603474 RPS19 skos:exactMatch hgnc.symbol:RPS19 semapv:UnspecifiedMatching OMIM:603474 RPS19 skos:exactMatch ncbigene:6223 semapv:UnspecifiedMatching -OMIM:603475 CHRD skos:exactMatch hgnc:CHRD semapv:UnspecifiedMatching +OMIM:603475 CHRD skos:exactMatch hgnc.symbol:1949 semapv:UnspecifiedMatching +OMIM:603475 CHRD skos:exactMatch hgnc.symbol:CHRD semapv:UnspecifiedMatching OMIM:603475 CHRD skos:exactMatch ncbigene:8646 semapv:UnspecifiedMatching -OMIM:603476 CREBL2 skos:exactMatch hgnc:CREBL2 semapv:UnspecifiedMatching +OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:2350 semapv:UnspecifiedMatching +OMIM:603476 CREBL2 skos:exactMatch hgnc.symbol:CREBL2 semapv:UnspecifiedMatching OMIM:603476 CREBL2 skos:exactMatch ncbigene:1389 semapv:UnspecifiedMatching OMIM:603477 BUD31 skos:exactMatch UMLS:C1823197 semapv:UnspecifiedMatching -OMIM:603477 BUD31 skos:exactMatch hgnc:BUD31 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:29629 semapv:UnspecifiedMatching +OMIM:603477 BUD31 skos:exactMatch hgnc.symbol:BUD31 semapv:UnspecifiedMatching OMIM:603477 BUD31 skos:exactMatch ncbigene:8896 semapv:UnspecifiedMatching -OMIM:603478 USP1 skos:exactMatch hgnc:USP1 semapv:UnspecifiedMatching +OMIM:603478 USP1 skos:exactMatch hgnc.symbol:12607 semapv:UnspecifiedMatching +OMIM:603478 USP1 skos:exactMatch hgnc.symbol:USP1 semapv:UnspecifiedMatching OMIM:603478 USP1 skos:exactMatch ncbigene:7398 semapv:UnspecifiedMatching -OMIM:603479 ECM2 skos:exactMatch hgnc:ECM2 semapv:UnspecifiedMatching +OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:3154 semapv:UnspecifiedMatching +OMIM:603479 ECM2 skos:exactMatch hgnc.symbol:ECM2 semapv:UnspecifiedMatching OMIM:603479 ECM2 skos:exactMatch ncbigene:1842 semapv:UnspecifiedMatching -OMIM:603481 PSMD13 skos:exactMatch hgnc:PSMD13 semapv:UnspecifiedMatching +OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:9558 semapv:UnspecifiedMatching +OMIM:603481 PSMD13 skos:exactMatch hgnc.symbol:PSMD13 semapv:UnspecifiedMatching OMIM:603481 PSMD13 skos:exactMatch ncbigene:5719 semapv:UnspecifiedMatching -OMIM:603482 BTRC skos:exactMatch hgnc:BTRC semapv:UnspecifiedMatching +OMIM:603482 BTRC skos:exactMatch hgnc.symbol:1144 semapv:UnspecifiedMatching +OMIM:603482 BTRC skos:exactMatch hgnc.symbol:BTRC semapv:UnspecifiedMatching OMIM:603482 BTRC skos:exactMatch ncbigene:8945 semapv:UnspecifiedMatching -OMIM:603483 EIF4EBP3 skos:exactMatch hgnc:EIF4EBP3 semapv:UnspecifiedMatching +OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:3290 semapv:UnspecifiedMatching +OMIM:603483 EIF4EBP3 skos:exactMatch hgnc.symbol:EIF4EBP3 semapv:UnspecifiedMatching OMIM:603483 EIF4EBP3 skos:exactMatch ncbigene:8637 semapv:UnspecifiedMatching -OMIM:603484 PRC1 skos:exactMatch hgnc:PRC1 semapv:UnspecifiedMatching +OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:9341 semapv:UnspecifiedMatching +OMIM:603484 PRC1 skos:exactMatch hgnc.symbol:PRC1 semapv:UnspecifiedMatching OMIM:603484 PRC1 skos:exactMatch ncbigene:9055 semapv:UnspecifiedMatching -OMIM:603485 NFS1 skos:exactMatch hgnc:NFS1 semapv:UnspecifiedMatching +OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:15910 semapv:UnspecifiedMatching +OMIM:603485 NFS1 skos:exactMatch hgnc.symbol:NFS1 semapv:UnspecifiedMatching OMIM:603485 NFS1 skos:exactMatch ncbigene:9054 semapv:UnspecifiedMatching -OMIM:603486 USP4 skos:exactMatch hgnc:USP4 semapv:UnspecifiedMatching +OMIM:603486 USP4 skos:exactMatch hgnc.symbol:12627 semapv:UnspecifiedMatching +OMIM:603486 USP4 skos:exactMatch hgnc.symbol:USP4 semapv:UnspecifiedMatching OMIM:603486 USP4 skos:exactMatch ncbigene:7375 semapv:UnspecifiedMatching -OMIM:603487 MYH13 skos:exactMatch hgnc:MYH13 semapv:UnspecifiedMatching +OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:7571 semapv:UnspecifiedMatching +OMIM:603487 MYH13 skos:exactMatch hgnc.symbol:MYH13 semapv:UnspecifiedMatching OMIM:603487 MYH13 skos:exactMatch ncbigene:8735 semapv:UnspecifiedMatching -OMIM:603488 AAMP skos:exactMatch hgnc:AAMP semapv:UnspecifiedMatching +OMIM:603488 AAMP skos:exactMatch hgnc.symbol:18 semapv:UnspecifiedMatching +OMIM:603488 AAMP skos:exactMatch hgnc.symbol:AAMP semapv:UnspecifiedMatching OMIM:603488 AAMP skos:exactMatch ncbigene:14 semapv:UnspecifiedMatching -OMIM:603489 CILP skos:exactMatch hgnc:CILP semapv:UnspecifiedMatching +OMIM:603489 CILP skos:exactMatch hgnc.symbol:1980 semapv:UnspecifiedMatching +OMIM:603489 CILP skos:exactMatch hgnc.symbol:CILP semapv:UnspecifiedMatching OMIM:603489 CILP skos:exactMatch ncbigene:8483 semapv:UnspecifiedMatching -OMIM:603490 WNT4 skos:exactMatch hgnc:WNT4 semapv:UnspecifiedMatching +OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:12783 semapv:UnspecifiedMatching +OMIM:603490 WNT4 skos:exactMatch hgnc.symbol:WNT4 semapv:UnspecifiedMatching OMIM:603490 WNT4 skos:exactMatch ncbigene:54361 semapv:UnspecifiedMatching -OMIM:603491 IGSF3 skos:exactMatch hgnc:IGSF3 semapv:UnspecifiedMatching +OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:5950 semapv:UnspecifiedMatching +OMIM:603491 IGSF3 skos:exactMatch hgnc.symbol:IGSF3 semapv:UnspecifiedMatching OMIM:603491 IGSF3 skos:exactMatch ncbigene:3321 semapv:UnspecifiedMatching -OMIM:603492 SLAMF1 skos:exactMatch hgnc:SLAMF1 semapv:UnspecifiedMatching +OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:10903 semapv:UnspecifiedMatching +OMIM:603492 SLAMF1 skos:exactMatch hgnc.symbol:SLAMF1 semapv:UnspecifiedMatching OMIM:603492 SLAMF1 skos:exactMatch ncbigene:6504 semapv:UnspecifiedMatching -OMIM:603493 KCNK5 skos:exactMatch hgnc:KCNK5 semapv:UnspecifiedMatching +OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:6280 semapv:UnspecifiedMatching +OMIM:603493 KCNK5 skos:exactMatch hgnc.symbol:KCNK5 semapv:UnspecifiedMatching OMIM:603493 KCNK5 skos:exactMatch ncbigene:8645 semapv:UnspecifiedMatching -OMIM:603494 URI1 skos:exactMatch hgnc:URI1 semapv:UnspecifiedMatching +OMIM:603494 URI1 skos:exactMatch hgnc.symbol:13236 semapv:UnspecifiedMatching +OMIM:603494 URI1 skos:exactMatch hgnc.symbol:URI1 semapv:UnspecifiedMatching OMIM:603494 URI1 skos:exactMatch ncbigene:8725 semapv:UnspecifiedMatching OMIM:603495 AURKC skos:exactMatch UMLS:C0403812 semapv:UnspecifiedMatching OMIM:603495 AURKC skos:exactMatch UMLS:C1420465 semapv:UnspecifiedMatching -OMIM:603495 AURKC skos:exactMatch hgnc:AURKC semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch hgnc.symbol:11391 semapv:UnspecifiedMatching +OMIM:603495 AURKC skos:exactMatch hgnc.symbol:AURKC semapv:UnspecifiedMatching OMIM:603495 AURKC skos:exactMatch ncbigene:6795 semapv:UnspecifiedMatching -OMIM:603496 DYRK2 skos:exactMatch hgnc:DYRK2 semapv:UnspecifiedMatching +OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:3093 semapv:UnspecifiedMatching +OMIM:603496 DYRK2 skos:exactMatch hgnc.symbol:DYRK2 semapv:UnspecifiedMatching OMIM:603496 DYRK2 skos:exactMatch ncbigene:8445 semapv:UnspecifiedMatching -OMIM:603497 DYRK3 skos:exactMatch hgnc:DYRK3 semapv:UnspecifiedMatching +OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:3094 semapv:UnspecifiedMatching +OMIM:603497 DYRK3 skos:exactMatch hgnc.symbol:DYRK3 semapv:UnspecifiedMatching OMIM:603497 DYRK3 skos:exactMatch ncbigene:8444 semapv:UnspecifiedMatching -OMIM:603498 SMPD2 skos:exactMatch hgnc:SMPD2 semapv:UnspecifiedMatching +OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:11121 semapv:UnspecifiedMatching +OMIM:603498 SMPD2 skos:exactMatch hgnc.symbol:SMPD2 semapv:UnspecifiedMatching OMIM:603498 SMPD2 skos:exactMatch ncbigene:6610 semapv:UnspecifiedMatching -OMIM:603499 TNFRSF11A skos:exactMatch hgnc:TNFRSF11A semapv:UnspecifiedMatching +OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:11908 semapv:UnspecifiedMatching +OMIM:603499 TNFRSF11A skos:exactMatch hgnc.symbol:TNFRSF11A semapv:UnspecifiedMatching OMIM:603499 TNFRSF11A skos:exactMatch ncbigene:8792 semapv:UnspecifiedMatching -OMIM:603500 TRADD skos:exactMatch hgnc:TRADD semapv:UnspecifiedMatching +OMIM:603500 TRADD skos:exactMatch hgnc.symbol:12030 semapv:UnspecifiedMatching +OMIM:603500 TRADD skos:exactMatch hgnc.symbol:TRADD semapv:UnspecifiedMatching OMIM:603500 TRADD skos:exactMatch ncbigene:8717 semapv:UnspecifiedMatching -OMIM:603501 PARG skos:exactMatch hgnc:PARG semapv:UnspecifiedMatching +OMIM:603501 PARG skos:exactMatch hgnc.symbol:8605 semapv:UnspecifiedMatching +OMIM:603501 PARG skos:exactMatch hgnc.symbol:PARG semapv:UnspecifiedMatching OMIM:603501 PARG skos:exactMatch ncbigene:8505 semapv:UnspecifiedMatching -OMIM:603502 IFRD1 skos:exactMatch hgnc:IFRD1 semapv:UnspecifiedMatching +OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:5456 semapv:UnspecifiedMatching +OMIM:603502 IFRD1 skos:exactMatch hgnc.symbol:IFRD1 semapv:UnspecifiedMatching OMIM:603502 IFRD1 skos:exactMatch ncbigene:3475 semapv:UnspecifiedMatching -OMIM:603503 DPM1 skos:exactMatch hgnc:DPM1 semapv:UnspecifiedMatching +OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:3005 semapv:UnspecifiedMatching +OMIM:603503 DPM1 skos:exactMatch hgnc.symbol:DPM1 semapv:UnspecifiedMatching OMIM:603503 DPM1 skos:exactMatch ncbigene:8813 semapv:UnspecifiedMatching -OMIM:603504 CDC14A skos:exactMatch hgnc:CDC14A semapv:UnspecifiedMatching +OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:1718 semapv:UnspecifiedMatching +OMIM:603504 CDC14A skos:exactMatch hgnc.symbol:CDC14A semapv:UnspecifiedMatching OMIM:603504 CDC14A skos:exactMatch ncbigene:8556 semapv:UnspecifiedMatching -OMIM:603505 CDC14B skos:exactMatch hgnc:CDC14B semapv:UnspecifiedMatching +OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:1719 semapv:UnspecifiedMatching +OMIM:603505 CDC14B skos:exactMatch hgnc.symbol:CDC14B semapv:UnspecifiedMatching OMIM:603505 CDC14B skos:exactMatch ncbigene:8555 semapv:UnspecifiedMatching -OMIM:603506 LRP5 skos:exactMatch hgnc:LRP5 semapv:UnspecifiedMatching +OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:6697 semapv:UnspecifiedMatching +OMIM:603506 LRP5 skos:exactMatch hgnc.symbol:LRP5 semapv:UnspecifiedMatching OMIM:603506 LRP5 skos:exactMatch ncbigene:4041 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch UMLS:C1416918 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch UMLS:C1970440 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch UMLS:C4225231 semapv:UnspecifiedMatching -OMIM:603507 LRP6 skos:exactMatch hgnc:LRP6 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:6698 semapv:UnspecifiedMatching +OMIM:603507 LRP6 skos:exactMatch hgnc.symbol:LRP6 semapv:UnspecifiedMatching OMIM:603507 LRP6 skos:exactMatch ncbigene:4040 semapv:UnspecifiedMatching -OMIM:603508 MYOM1 skos:exactMatch hgnc:MYOM1 semapv:UnspecifiedMatching +OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:7613 semapv:UnspecifiedMatching +OMIM:603508 MYOM1 skos:exactMatch hgnc.symbol:MYOM1 semapv:UnspecifiedMatching OMIM:603508 MYOM1 skos:exactMatch ncbigene:8736 semapv:UnspecifiedMatching -OMIM:603509 MYOM2 skos:exactMatch hgnc:MYOM2 semapv:UnspecifiedMatching +OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:7614 semapv:UnspecifiedMatching +OMIM:603509 MYOM2 skos:exactMatch hgnc.symbol:MYOM2 semapv:UnspecifiedMatching OMIM:603509 MYOM2 skos:exactMatch ncbigene:9172 semapv:UnspecifiedMatching -OMIM:603512 RNGTT skos:exactMatch hgnc:RNGTT semapv:UnspecifiedMatching +OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:10073 semapv:UnspecifiedMatching +OMIM:603512 RNGTT skos:exactMatch hgnc.symbol:RNGTT semapv:UnspecifiedMatching OMIM:603512 RNGTT skos:exactMatch ncbigene:8732 semapv:UnspecifiedMatching -OMIM:603514 RNMT skos:exactMatch hgnc:RNMT semapv:UnspecifiedMatching +OMIM:603514 RNMT skos:exactMatch hgnc.symbol:10075 semapv:UnspecifiedMatching +OMIM:603514 RNMT skos:exactMatch hgnc.symbol:RNMT semapv:UnspecifiedMatching OMIM:603514 RNMT skos:exactMatch ncbigene:8731 semapv:UnspecifiedMatching -OMIM:603515 CSHL1 skos:exactMatch hgnc:CSHL1 semapv:UnspecifiedMatching +OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:2442 semapv:UnspecifiedMatching +OMIM:603515 CSHL1 skos:exactMatch hgnc.symbol:CSHL1 semapv:UnspecifiedMatching OMIM:603515 CSHL1 skos:exactMatch ncbigene:1444 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C1367449 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C3276200 semapv:UnspecifiedMatching @@ -15971,627 +21811,895 @@ OMIM:603517 BCL10 skos:exactMatch UMLS:C4016843 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4016844 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4016845 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch UMLS:C4016846 semapv:UnspecifiedMatching -OMIM:603517 BCL10 skos:exactMatch hgnc:BCL10 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:989 semapv:UnspecifiedMatching +OMIM:603517 BCL10 skos:exactMatch hgnc.symbol:BCL10 semapv:UnspecifiedMatching OMIM:603517 BCL10 skos:exactMatch ncbigene:8915 semapv:UnspecifiedMatching -OMIM:603518 TIA1 skos:exactMatch hgnc:TIA1 semapv:UnspecifiedMatching +OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:11802 semapv:UnspecifiedMatching +OMIM:603518 TIA1 skos:exactMatch hgnc.symbol:TIA1 semapv:UnspecifiedMatching OMIM:603518 TIA1 skos:exactMatch ncbigene:7072 semapv:UnspecifiedMatching -OMIM:603519 SMNDC1 skos:exactMatch hgnc:SMNDC1 semapv:UnspecifiedMatching +OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:16900 semapv:UnspecifiedMatching +OMIM:603519 SMNDC1 skos:exactMatch hgnc.symbol:SMNDC1 semapv:UnspecifiedMatching OMIM:603519 SMNDC1 skos:exactMatch ncbigene:10285 semapv:UnspecifiedMatching -OMIM:603520 SNRPB2 skos:exactMatch hgnc:SNRPB2 semapv:UnspecifiedMatching +OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:11155 semapv:UnspecifiedMatching +OMIM:603520 SNRPB2 skos:exactMatch hgnc.symbol:SNRPB2 semapv:UnspecifiedMatching OMIM:603520 SNRPB2 skos:exactMatch ncbigene:6629 semapv:UnspecifiedMatching -OMIM:603521 SNRPA1 skos:exactMatch hgnc:SNRPA1 semapv:UnspecifiedMatching +OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:11152 semapv:UnspecifiedMatching +OMIM:603521 SNRPA1 skos:exactMatch hgnc.symbol:SNRPA1 semapv:UnspecifiedMatching OMIM:603521 SNRPA1 skos:exactMatch ncbigene:6627 semapv:UnspecifiedMatching -OMIM:603522 SNRPC skos:exactMatch hgnc:SNRPC semapv:UnspecifiedMatching +OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:11157 semapv:UnspecifiedMatching +OMIM:603522 SNRPC skos:exactMatch hgnc.symbol:SNRPC semapv:UnspecifiedMatching OMIM:603522 SNRPC skos:exactMatch ncbigene:6631 semapv:UnspecifiedMatching -OMIM:603524 RCBTB2 skos:exactMatch hgnc:RCBTB2 semapv:UnspecifiedMatching +OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:1914 semapv:UnspecifiedMatching +OMIM:603524 RCBTB2 skos:exactMatch hgnc.symbol:RCBTB2 semapv:UnspecifiedMatching OMIM:603524 RCBTB2 skos:exactMatch ncbigene:1102 semapv:UnspecifiedMatching -OMIM:603525 NMI skos:exactMatch hgnc:NMI semapv:UnspecifiedMatching +OMIM:603525 NMI skos:exactMatch hgnc.symbol:7854 semapv:UnspecifiedMatching +OMIM:603525 NMI skos:exactMatch hgnc.symbol:NMI semapv:UnspecifiedMatching OMIM:603525 NMI skos:exactMatch ncbigene:9111 semapv:UnspecifiedMatching -OMIM:603526 MTA1 skos:exactMatch hgnc:MTA1 semapv:UnspecifiedMatching +OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:7410 semapv:UnspecifiedMatching +OMIM:603526 MTA1 skos:exactMatch hgnc.symbol:MTA1 semapv:UnspecifiedMatching OMIM:603526 MTA1 skos:exactMatch ncbigene:9112 semapv:UnspecifiedMatching -OMIM:603527 DPH1 skos:exactMatch hgnc:DPH1 semapv:UnspecifiedMatching +OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:3003 semapv:UnspecifiedMatching +OMIM:603527 DPH1 skos:exactMatch hgnc.symbol:DPH1 semapv:UnspecifiedMatching OMIM:603527 DPH1 skos:exactMatch ncbigene:1801 semapv:UnspecifiedMatching OMIM:603531 AP1S1 skos:exactMatch UMLS:C1412439 semapv:UnspecifiedMatching OMIM:603531 AP1S1 skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching -OMIM:603531 AP1S1 skos:exactMatch hgnc:AP1S1 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:559 semapv:UnspecifiedMatching +OMIM:603531 AP1S1 skos:exactMatch hgnc.symbol:AP1S1 semapv:UnspecifiedMatching OMIM:603531 AP1S1 skos:exactMatch ncbigene:1174 semapv:UnspecifiedMatching -OMIM:603533 AP1G1 skos:exactMatch hgnc:AP1G1 semapv:UnspecifiedMatching +OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:555 semapv:UnspecifiedMatching +OMIM:603533 AP1G1 skos:exactMatch hgnc.symbol:AP1G1 semapv:UnspecifiedMatching OMIM:603533 AP1G1 skos:exactMatch ncbigene:164 semapv:UnspecifiedMatching -OMIM:603534 AP1G2 skos:exactMatch hgnc:AP1G2 semapv:UnspecifiedMatching +OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:556 semapv:UnspecifiedMatching +OMIM:603534 AP1G2 skos:exactMatch hgnc.symbol:AP1G2 semapv:UnspecifiedMatching OMIM:603534 AP1G2 skos:exactMatch ncbigene:8906 semapv:UnspecifiedMatching -OMIM:603535 AP1M1 skos:exactMatch hgnc:AP1M1 semapv:UnspecifiedMatching +OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:13667 semapv:UnspecifiedMatching +OMIM:603535 AP1M1 skos:exactMatch hgnc.symbol:AP1M1 semapv:UnspecifiedMatching OMIM:603535 AP1M1 skos:exactMatch ncbigene:8907 semapv:UnspecifiedMatching -OMIM:603536 FUBP3 skos:exactMatch hgnc:FUBP3 semapv:UnspecifiedMatching +OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:4005 semapv:UnspecifiedMatching +OMIM:603536 FUBP3 skos:exactMatch hgnc.symbol:FUBP3 semapv:UnspecifiedMatching OMIM:603536 FUBP3 skos:exactMatch ncbigene:8939 semapv:UnspecifiedMatching -OMIM:603537 KCNQ4 skos:exactMatch hgnc:KCNQ4 semapv:UnspecifiedMatching +OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:6298 semapv:UnspecifiedMatching +OMIM:603537 KCNQ4 skos:exactMatch hgnc.symbol:KCNQ4 semapv:UnspecifiedMatching OMIM:603537 KCNQ4 skos:exactMatch ncbigene:9132 semapv:UnspecifiedMatching -OMIM:603538 KMO skos:exactMatch hgnc:KMO semapv:UnspecifiedMatching +OMIM:603538 KMO skos:exactMatch hgnc.symbol:6381 semapv:UnspecifiedMatching +OMIM:603538 KMO skos:exactMatch hgnc.symbol:KMO semapv:UnspecifiedMatching OMIM:603538 KMO skos:exactMatch ncbigene:8564 semapv:UnspecifiedMatching -OMIM:603539 CTSF skos:exactMatch hgnc:CTSF semapv:UnspecifiedMatching +OMIM:603539 CTSF skos:exactMatch hgnc.symbol:2531 semapv:UnspecifiedMatching +OMIM:603539 CTSF skos:exactMatch hgnc.symbol:CTSF semapv:UnspecifiedMatching OMIM:603539 CTSF skos:exactMatch ncbigene:8722 semapv:UnspecifiedMatching OMIM:603540 GABBR1 skos:exactMatch UMLS:C1414904 semapv:UnspecifiedMatching -OMIM:603540 GABBR1 skos:exactMatch hgnc:GABBR1 semapv:UnspecifiedMatching +OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:4070 semapv:UnspecifiedMatching +OMIM:603540 GABBR1 skos:exactMatch hgnc.symbol:GABBR1 semapv:UnspecifiedMatching OMIM:603540 GABBR1 skos:exactMatch ncbigene:2550 semapv:UnspecifiedMatching -OMIM:603541 SNRPF skos:exactMatch hgnc:SNRPF semapv:UnspecifiedMatching +OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:11162 semapv:UnspecifiedMatching +OMIM:603541 SNRPF skos:exactMatch hgnc.symbol:SNRPF semapv:UnspecifiedMatching OMIM:603541 SNRPF skos:exactMatch ncbigene:6636 semapv:UnspecifiedMatching -OMIM:603542 SNRPG skos:exactMatch hgnc:SNRPG semapv:UnspecifiedMatching +OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:11163 semapv:UnspecifiedMatching +OMIM:603542 SNRPG skos:exactMatch hgnc.symbol:SNRPG semapv:UnspecifiedMatching OMIM:603542 SNRPG skos:exactMatch ncbigene:6637 semapv:UnspecifiedMatching +OMIM:603543 limb-mammary syndrome skos:exactMatch Orphanet:69085 semapv:UnspecifiedMatching OMIM:603543 limb-mammary syndrome skos:exactMatch UMLS:C1863753 semapv:UnspecifiedMatching -OMIM:603543 limb-mammary syndrome skos:exactMatch orphanet.ordo:69085 semapv:UnspecifiedMatching -OMIM:603544 CCNK skos:exactMatch hgnc:CCNK semapv:UnspecifiedMatching +OMIM:603544 CCNK skos:exactMatch hgnc.symbol:1596 semapv:UnspecifiedMatching +OMIM:603544 CCNK skos:exactMatch hgnc.symbol:CCNK semapv:UnspecifiedMatching OMIM:603544 CCNK skos:exactMatch ncbigene:8812 semapv:UnspecifiedMatching -OMIM:603547 MBD2 skos:exactMatch hgnc:MBD2 semapv:UnspecifiedMatching +OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:6917 semapv:UnspecifiedMatching +OMIM:603547 MBD2 skos:exactMatch hgnc.symbol:MBD2 semapv:UnspecifiedMatching OMIM:603547 MBD2 skos:exactMatch ncbigene:8932 semapv:UnspecifiedMatching -OMIM:603548 CDS1 skos:exactMatch hgnc:CDS1 semapv:UnspecifiedMatching +OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:1800 semapv:UnspecifiedMatching +OMIM:603548 CDS1 skos:exactMatch hgnc.symbol:CDS1 semapv:UnspecifiedMatching OMIM:603548 CDS1 skos:exactMatch ncbigene:1040 semapv:UnspecifiedMatching -OMIM:603549 CDS2 skos:exactMatch hgnc:CDS2 semapv:UnspecifiedMatching +OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:1801 semapv:UnspecifiedMatching +OMIM:603549 CDS2 skos:exactMatch hgnc.symbol:CDS2 semapv:UnspecifiedMatching OMIM:603549 CDS2 skos:exactMatch ncbigene:8760 semapv:UnspecifiedMatching -OMIM:603550 EYA4 skos:exactMatch hgnc:EYA4 semapv:UnspecifiedMatching +OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:3522 semapv:UnspecifiedMatching +OMIM:603550 EYA4 skos:exactMatch hgnc.symbol:EYA4 semapv:UnspecifiedMatching OMIM:603550 EYA4 skos:exactMatch ncbigene:2070 semapv:UnspecifiedMatching -OMIM:603551 HYAL2 skos:exactMatch hgnc:HYAL2 semapv:UnspecifiedMatching +OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:5321 semapv:UnspecifiedMatching +OMIM:603551 HYAL2 skos:exactMatch hgnc.symbol:HYAL2 semapv:UnspecifiedMatching OMIM:603551 HYAL2 skos:exactMatch ncbigene:8692 semapv:UnspecifiedMatching +OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch UMLS:C1863728 semapv:UnspecifiedMatching -OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 skos:exactMatch orphanet.ordo:540 semapv:UnspecifiedMatching +OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch UMLS:C1863727 semapv:UnspecifiedMatching -OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 skos:exactMatch orphanet.ordo:540 semapv:UnspecifiedMatching +OMIM:603554 omenn syndrome skos:exactMatch Orphanet:39041 semapv:UnspecifiedMatching OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2700553 semapv:UnspecifiedMatching OMIM:603554 omenn syndrome skos:exactMatch UMLS:C2931884 semapv:UnspecifiedMatching -OMIM:603554 omenn syndrome skos:exactMatch orphanet.ordo:39041 semapv:UnspecifiedMatching OMIM:603555 SUPT4H1 skos:exactMatch UMLS:C1420523 semapv:UnspecifiedMatching -OMIM:603555 SUPT4H1 skos:exactMatch hgnc:SUPT4H1 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:11467 semapv:UnspecifiedMatching +OMIM:603555 SUPT4H1 skos:exactMatch hgnc.symbol:SUPT4H1 semapv:UnspecifiedMatching OMIM:603555 SUPT4H1 skos:exactMatch ncbigene:6827 semapv:UnspecifiedMatching -OMIM:603557 MTMR2 skos:exactMatch hgnc:MTMR2 semapv:UnspecifiedMatching +OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:7450 semapv:UnspecifiedMatching +OMIM:603557 MTMR2 skos:exactMatch hgnc.symbol:MTMR2 semapv:UnspecifiedMatching OMIM:603557 MTMR2 skos:exactMatch ncbigene:8898 semapv:UnspecifiedMatching -OMIM:603558 MTMR3 skos:exactMatch hgnc:MTMR3 semapv:UnspecifiedMatching +OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:7451 semapv:UnspecifiedMatching +OMIM:603558 MTMR3 skos:exactMatch hgnc.symbol:MTMR3 semapv:UnspecifiedMatching OMIM:603558 MTMR3 skos:exactMatch ncbigene:8897 semapv:UnspecifiedMatching -OMIM:603559 MTMR4 skos:exactMatch hgnc:MTMR4 semapv:UnspecifiedMatching +OMIM:603559 MTMR4 skos:exactMatch hgnc.symbol:7452 semapv:UnspecifiedMatching +OMIM:603559 MTMR4 skos:exactMatch hgnc.symbol:MTMR4 semapv:UnspecifiedMatching OMIM:603559 MTMR4 skos:exactMatch ncbigene:9110 semapv:UnspecifiedMatching -OMIM:603560 SBF1 skos:exactMatch hgnc:SBF1 semapv:UnspecifiedMatching +OMIM:603560 SBF1 skos:exactMatch hgnc.symbol:10542 semapv:UnspecifiedMatching +OMIM:603560 SBF1 skos:exactMatch hgnc.symbol:SBF1 semapv:UnspecifiedMatching OMIM:603560 SBF1 skos:exactMatch ncbigene:6305 semapv:UnspecifiedMatching -OMIM:603561 MTMR6 skos:exactMatch hgnc:MTMR6 semapv:UnspecifiedMatching +OMIM:603561 MTMR6 skos:exactMatch hgnc.symbol:7453 semapv:UnspecifiedMatching +OMIM:603561 MTMR6 skos:exactMatch hgnc.symbol:MTMR6 semapv:UnspecifiedMatching OMIM:603561 MTMR6 skos:exactMatch ncbigene:9107 semapv:UnspecifiedMatching -OMIM:603562 MTMR7 skos:exactMatch hgnc:MTMR7 semapv:UnspecifiedMatching +OMIM:603562 MTMR7 skos:exactMatch hgnc.symbol:7454 semapv:UnspecifiedMatching +OMIM:603562 MTMR7 skos:exactMatch hgnc.symbol:MTMR7 semapv:UnspecifiedMatching OMIM:603562 MTMR7 skos:exactMatch ncbigene:9108 semapv:UnspecifiedMatching -OMIM:603564 DPM2 skos:exactMatch hgnc:DPM2 semapv:UnspecifiedMatching +OMIM:603564 DPM2 skos:exactMatch hgnc.symbol:3006 semapv:UnspecifiedMatching +OMIM:603564 DPM2 skos:exactMatch hgnc.symbol:DPM2 semapv:UnspecifiedMatching OMIM:603564 DPM2 skos:exactMatch ncbigene:8818 semapv:UnspecifiedMatching -OMIM:603565 GALNT4 skos:exactMatch hgnc:GALNT4 semapv:UnspecifiedMatching +OMIM:603565 GALNT4 skos:exactMatch hgnc.symbol:4126 semapv:UnspecifiedMatching +OMIM:603565 GALNT4 skos:exactMatch hgnc.symbol:GALNT4 semapv:UnspecifiedMatching OMIM:603565 GALNT4 skos:exactMatch ncbigene:8693 semapv:UnspecifiedMatching -OMIM:603566 PIAS1 skos:exactMatch hgnc:PIAS1 semapv:UnspecifiedMatching +OMIM:603566 PIAS1 skos:exactMatch hgnc.symbol:2752 semapv:UnspecifiedMatching +OMIM:603566 PIAS1 skos:exactMatch hgnc.symbol:PIAS1 semapv:UnspecifiedMatching OMIM:603566 PIAS1 skos:exactMatch ncbigene:8554 semapv:UnspecifiedMatching -OMIM:603567 PIAS2 skos:exactMatch hgnc:PIAS2 semapv:UnspecifiedMatching +OMIM:603567 PIAS2 skos:exactMatch hgnc.symbol:17311 semapv:UnspecifiedMatching +OMIM:603567 PIAS2 skos:exactMatch hgnc.symbol:PIAS2 semapv:UnspecifiedMatching OMIM:603567 PIAS2 skos:exactMatch ncbigene:9063 semapv:UnspecifiedMatching -OMIM:603568 RNU73 skos:exactMatch hgnc:SNORD73A semapv:UnspecifiedMatching +OMIM:603568 RNU73 skos:exactMatch hgnc.symbol:10235 semapv:UnspecifiedMatching +OMIM:603568 RNU73 skos:exactMatch hgnc.symbol:SNORD73A semapv:UnspecifiedMatching OMIM:603568 RNU73 skos:exactMatch ncbigene:8944 semapv:UnspecifiedMatching -OMIM:603570 VNN1 skos:exactMatch hgnc:VNN1 semapv:UnspecifiedMatching +OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:12705 semapv:UnspecifiedMatching +OMIM:603570 VNN1 skos:exactMatch hgnc.symbol:VNN1 semapv:UnspecifiedMatching OMIM:603570 VNN1 skos:exactMatch ncbigene:8876 semapv:UnspecifiedMatching -OMIM:603571 VNN2 skos:exactMatch hgnc:VNN2 semapv:UnspecifiedMatching +OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:12706 semapv:UnspecifiedMatching +OMIM:603571 VNN2 skos:exactMatch hgnc.symbol:VNN2 semapv:UnspecifiedMatching OMIM:603571 VNN2 skos:exactMatch ncbigene:8875 semapv:UnspecifiedMatching -OMIM:603573 MBD3 skos:exactMatch hgnc:MBD3 semapv:UnspecifiedMatching +OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:6918 semapv:UnspecifiedMatching +OMIM:603573 MBD3 skos:exactMatch hgnc.symbol:MBD3 semapv:UnspecifiedMatching OMIM:603573 MBD3 skos:exactMatch ncbigene:53615 semapv:UnspecifiedMatching -OMIM:603574 MBD4 skos:exactMatch hgnc:MBD4 semapv:UnspecifiedMatching +OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:6919 semapv:UnspecifiedMatching +OMIM:603574 MBD4 skos:exactMatch hgnc.symbol:MBD4 semapv:UnspecifiedMatching OMIM:603574 MBD4 skos:exactMatch ncbigene:8930 semapv:UnspecifiedMatching OMIM:603575 NME5 skos:exactMatch UMLS:C1417744 semapv:UnspecifiedMatching -OMIM:603575 NME5 skos:exactMatch hgnc:NME5 semapv:UnspecifiedMatching +OMIM:603575 NME5 skos:exactMatch hgnc.symbol:7853 semapv:UnspecifiedMatching +OMIM:603575 NME5 skos:exactMatch hgnc.symbol:NME5 semapv:UnspecifiedMatching OMIM:603575 NME5 skos:exactMatch ncbigene:8382 semapv:UnspecifiedMatching -OMIM:603576 TRPM1 skos:exactMatch hgnc:TRPM1 semapv:UnspecifiedMatching +OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:7146 semapv:UnspecifiedMatching +OMIM:603576 TRPM1 skos:exactMatch hgnc.symbol:TRPM1 semapv:UnspecifiedMatching OMIM:603576 TRPM1 skos:exactMatch ncbigene:4308 semapv:UnspecifiedMatching -OMIM:603577 NOL4 skos:exactMatch hgnc:NOL4 semapv:UnspecifiedMatching +OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:7870 semapv:UnspecifiedMatching +OMIM:603577 NOL4 skos:exactMatch hgnc.symbol:NOL4 semapv:UnspecifiedMatching OMIM:603577 NOL4 skos:exactMatch ncbigene:8715 semapv:UnspecifiedMatching -OMIM:603578 OVGP1 skos:exactMatch hgnc:OVGP1 semapv:UnspecifiedMatching +OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:8524 semapv:UnspecifiedMatching +OMIM:603578 OVGP1 skos:exactMatch hgnc.symbol:OVGP1 semapv:UnspecifiedMatching OMIM:603578 OVGP1 skos:exactMatch ncbigene:5016 semapv:UnspecifiedMatching -OMIM:603579 RIOK3 skos:exactMatch hgnc:RIOK3 semapv:UnspecifiedMatching +OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:11451 semapv:UnspecifiedMatching +OMIM:603579 RIOK3 skos:exactMatch hgnc.symbol:RIOK3 semapv:UnspecifiedMatching OMIM:603579 RIOK3 skos:exactMatch ncbigene:8780 semapv:UnspecifiedMatching -OMIM:603580 PCDH8 skos:exactMatch hgnc:PCDH8 semapv:UnspecifiedMatching +OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:8660 semapv:UnspecifiedMatching +OMIM:603580 PCDH8 skos:exactMatch hgnc.symbol:PCDH8 semapv:UnspecifiedMatching OMIM:603580 PCDH8 skos:exactMatch ncbigene:5100 semapv:UnspecifiedMatching -OMIM:603581 PCDH9 skos:exactMatch hgnc:PCDH9 semapv:UnspecifiedMatching +OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:8661 semapv:UnspecifiedMatching +OMIM:603581 PCDH9 skos:exactMatch hgnc.symbol:PCDH9 semapv:UnspecifiedMatching OMIM:603581 PCDH9 skos:exactMatch ncbigene:5101 semapv:UnspecifiedMatching -OMIM:603582 TOP3B skos:exactMatch hgnc:TOP3B semapv:UnspecifiedMatching +OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:11993 semapv:UnspecifiedMatching +OMIM:603582 TOP3B skos:exactMatch hgnc.symbol:TOP3B semapv:UnspecifiedMatching OMIM:603582 TOP3B skos:exactMatch ncbigene:8940 semapv:UnspecifiedMatching -OMIM:603583 DLG2 skos:exactMatch hgnc:DLG2 semapv:UnspecifiedMatching +OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:2901 semapv:UnspecifiedMatching +OMIM:603583 DLG2 skos:exactMatch hgnc.symbol:DLG2 semapv:UnspecifiedMatching OMIM:603583 DLG2 skos:exactMatch ncbigene:1740 semapv:UnspecifiedMatching OMIM:603584 MADD skos:exactMatch UMLS:C1366909 semapv:UnspecifiedMatching OMIM:603584 MADD skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching OMIM:603584 MADD skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching -OMIM:603584 MADD skos:exactMatch hgnc:MADD semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch hgnc.symbol:6766 semapv:UnspecifiedMatching +OMIM:603584 MADD skos:exactMatch hgnc.symbol:MADD semapv:UnspecifiedMatching OMIM:603584 MADD skos:exactMatch ncbigene:8567 semapv:UnspecifiedMatching OMIM:603589 facial dysmorphism, selective tooth agenesis, and choroid calcification skos:exactMatch UMLS:C1970343 semapv:UnspecifiedMatching OMIM:603590 LARGE1 skos:exactMatch UMLS:C1416798 semapv:UnspecifiedMatching OMIM:603590 LARGE1 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching OMIM:603590 LARGE1 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching -OMIM:603590 LARGE1 skos:exactMatch hgnc:LARGE1 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:6511 semapv:UnspecifiedMatching +OMIM:603590 LARGE1 skos:exactMatch hgnc.symbol:LARGE1 semapv:UnspecifiedMatching OMIM:603590 LARGE1 skos:exactMatch ncbigene:9215 semapv:UnspecifiedMatching -OMIM:603591 USP13 skos:exactMatch hgnc:USP13 semapv:UnspecifiedMatching +OMIM:603591 USP13 skos:exactMatch hgnc.symbol:12611 semapv:UnspecifiedMatching +OMIM:603591 USP13 skos:exactMatch hgnc.symbol:USP13 semapv:UnspecifiedMatching OMIM:603591 USP13 skos:exactMatch ncbigene:8975 semapv:UnspecifiedMatching -OMIM:603593 SLC7A7 skos:exactMatch hgnc:SLC7A7 semapv:UnspecifiedMatching +OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:11065 semapv:UnspecifiedMatching +OMIM:603593 SLC7A7 skos:exactMatch hgnc.symbol:SLC7A7 semapv:UnspecifiedMatching OMIM:603593 SLC7A7 skos:exactMatch ncbigene:9056 semapv:UnspecifiedMatching -OMIM:603594 TNFSF4 skos:exactMatch hgnc:TNFSF4 semapv:UnspecifiedMatching +OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:11934 semapv:UnspecifiedMatching +OMIM:603594 TNFSF4 skos:exactMatch hgnc.symbol:TNFSF4 semapv:UnspecifiedMatching OMIM:603594 TNFSF4 skos:exactMatch ncbigene:7292 semapv:UnspecifiedMatching -OMIM:603597 SOCS1 skos:exactMatch hgnc:SOCS1 semapv:UnspecifiedMatching +OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:19383 semapv:UnspecifiedMatching +OMIM:603597 SOCS1 skos:exactMatch hgnc.symbol:SOCS1 semapv:UnspecifiedMatching OMIM:603597 SOCS1 skos:exactMatch ncbigene:8651 semapv:UnspecifiedMatching -OMIM:603598 TNFSF10 skos:exactMatch hgnc:TNFSF10 semapv:UnspecifiedMatching +OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:11925 semapv:UnspecifiedMatching +OMIM:603598 TNFSF10 skos:exactMatch hgnc.symbol:TNFSF10 semapv:UnspecifiedMatching OMIM:603598 TNFSF10 skos:exactMatch ncbigene:8743 semapv:UnspecifiedMatching OMIM:603599 CFLAR skos:exactMatch UMLS:C1413357 semapv:UnspecifiedMatching -OMIM:603599 CFLAR skos:exactMatch hgnc:CFLAR semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:1876 semapv:UnspecifiedMatching +OMIM:603599 CFLAR skos:exactMatch hgnc.symbol:CFLAR semapv:UnspecifiedMatching OMIM:603599 CFLAR skos:exactMatch ncbigene:8837 semapv:UnspecifiedMatching -OMIM:603601 PIK3C2A skos:exactMatch hgnc:PIK3C2A semapv:UnspecifiedMatching +OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:8971 semapv:UnspecifiedMatching +OMIM:603601 PIK3C2A skos:exactMatch hgnc.symbol:PIK3C2A semapv:UnspecifiedMatching OMIM:603601 PIK3C2A skos:exactMatch ncbigene:5286 semapv:UnspecifiedMatching -OMIM:603602 PLA2G4C skos:exactMatch hgnc:PLA2G4C semapv:UnspecifiedMatching +OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:9037 semapv:UnspecifiedMatching +OMIM:603602 PLA2G4C skos:exactMatch hgnc.symbol:PLA2G4C semapv:UnspecifiedMatching OMIM:603602 PLA2G4C skos:exactMatch ncbigene:8605 semapv:UnspecifiedMatching -OMIM:603603 PLA2G10 skos:exactMatch hgnc:PLA2G10 semapv:UnspecifiedMatching +OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:9029 semapv:UnspecifiedMatching +OMIM:603603 PLA2G10 skos:exactMatch hgnc.symbol:PLA2G10 semapv:UnspecifiedMatching OMIM:603603 PLA2G10 skos:exactMatch ncbigene:8399 semapv:UnspecifiedMatching -OMIM:603604 PLA2G6 skos:exactMatch hgnc:PLA2G6 semapv:UnspecifiedMatching +OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:9039 semapv:UnspecifiedMatching +OMIM:603604 PLA2G6 skos:exactMatch hgnc.symbol:PLA2G6 semapv:UnspecifiedMatching OMIM:603604 PLA2G6 skos:exactMatch ncbigene:8398 semapv:UnspecifiedMatching -OMIM:603605 AIMP1 skos:exactMatch hgnc:AIMP1 semapv:UnspecifiedMatching +OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:10648 semapv:UnspecifiedMatching +OMIM:603605 AIMP1 skos:exactMatch hgnc.symbol:AIMP1 semapv:UnspecifiedMatching OMIM:603605 AIMP1 skos:exactMatch ncbigene:9255 semapv:UnspecifiedMatching -OMIM:603606 RPS6KA4 skos:exactMatch hgnc:RPS6KA4 semapv:UnspecifiedMatching +OMIM:603606 RPS6KA4 skos:exactMatch hgnc.symbol:10433 semapv:UnspecifiedMatching +OMIM:603606 RPS6KA4 skos:exactMatch hgnc.symbol:RPS6KA4 semapv:UnspecifiedMatching OMIM:603606 RPS6KA4 skos:exactMatch ncbigene:8986 semapv:UnspecifiedMatching -OMIM:603607 RPS6KA5 skos:exactMatch hgnc:RPS6KA5 semapv:UnspecifiedMatching +OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:10434 semapv:UnspecifiedMatching +OMIM:603607 RPS6KA5 skos:exactMatch hgnc.symbol:RPS6KA5 semapv:UnspecifiedMatching OMIM:603607 RPS6KA5 skos:exactMatch ncbigene:9252 semapv:UnspecifiedMatching -OMIM:603608 CBR3 skos:exactMatch hgnc:CBR3 semapv:UnspecifiedMatching +OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:1549 semapv:UnspecifiedMatching +OMIM:603608 CBR3 skos:exactMatch hgnc.symbol:CBR3 semapv:UnspecifiedMatching OMIM:603608 CBR3 skos:exactMatch ncbigene:874 semapv:UnspecifiedMatching -OMIM:603609 FPGT skos:exactMatch hgnc:FPGT semapv:UnspecifiedMatching +OMIM:603609 FPGT skos:exactMatch hgnc.symbol:3825 semapv:UnspecifiedMatching +OMIM:603609 FPGT skos:exactMatch hgnc.symbol:FPGT semapv:UnspecifiedMatching OMIM:603609 FPGT skos:exactMatch ncbigene:8790 semapv:UnspecifiedMatching -OMIM:603610 UNC5C skos:exactMatch hgnc:UNC5C semapv:UnspecifiedMatching +OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:12569 semapv:UnspecifiedMatching +OMIM:603610 UNC5C skos:exactMatch hgnc.symbol:UNC5C semapv:UnspecifiedMatching OMIM:603610 UNC5C skos:exactMatch ncbigene:8633 semapv:UnspecifiedMatching -OMIM:603611 TNFRSF10A skos:exactMatch hgnc:TNFRSF10A semapv:UnspecifiedMatching +OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:11904 semapv:UnspecifiedMatching +OMIM:603611 TNFRSF10A skos:exactMatch hgnc.symbol:TNFRSF10A semapv:UnspecifiedMatching OMIM:603611 TNFRSF10A skos:exactMatch ncbigene:8797 semapv:UnspecifiedMatching -OMIM:603612 TNFRSF10B skos:exactMatch hgnc:TNFRSF10B semapv:UnspecifiedMatching +OMIM:603612 TNFRSF10B skos:exactMatch hgnc.symbol:11905 semapv:UnspecifiedMatching +OMIM:603612 TNFRSF10B skos:exactMatch hgnc.symbol:TNFRSF10B semapv:UnspecifiedMatching OMIM:603612 TNFRSF10B skos:exactMatch ncbigene:8795 semapv:UnspecifiedMatching -OMIM:603613 TNFRSF10C skos:exactMatch hgnc:TNFRSF10C semapv:UnspecifiedMatching +OMIM:603613 TNFRSF10C skos:exactMatch hgnc.symbol:11906 semapv:UnspecifiedMatching +OMIM:603613 TNFRSF10C skos:exactMatch hgnc.symbol:TNFRSF10C semapv:UnspecifiedMatching OMIM:603613 TNFRSF10C skos:exactMatch ncbigene:8794 semapv:UnspecifiedMatching -OMIM:603614 TNFRSF10D skos:exactMatch hgnc:TNFRSF10D semapv:UnspecifiedMatching +OMIM:603614 TNFRSF10D skos:exactMatch hgnc.symbol:11907 semapv:UnspecifiedMatching +OMIM:603614 TNFRSF10D skos:exactMatch hgnc.symbol:TNFRSF10D semapv:UnspecifiedMatching OMIM:603614 TNFRSF10D skos:exactMatch ncbigene:8793 semapv:UnspecifiedMatching -OMIM:603615 RAD54L skos:exactMatch hgnc:RAD54L semapv:UnspecifiedMatching +OMIM:603615 RAD54L skos:exactMatch hgnc.symbol:9826 semapv:UnspecifiedMatching +OMIM:603615 RAD54L skos:exactMatch hgnc.symbol:RAD54L semapv:UnspecifiedMatching OMIM:603615 RAD54L skos:exactMatch ncbigene:8438 semapv:UnspecifiedMatching -OMIM:603616 RABEP1 skos:exactMatch hgnc:RABEP1 semapv:UnspecifiedMatching +OMIM:603616 RABEP1 skos:exactMatch hgnc.symbol:17677 semapv:UnspecifiedMatching +OMIM:603616 RABEP1 skos:exactMatch hgnc.symbol:RABEP1 semapv:UnspecifiedMatching OMIM:603616 RABEP1 skos:exactMatch ncbigene:9135 semapv:UnspecifiedMatching -OMIM:603617 SLC24A1 skos:exactMatch hgnc:SLC24A1 semapv:UnspecifiedMatching +OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:10975 semapv:UnspecifiedMatching +OMIM:603617 SLC24A1 skos:exactMatch hgnc.symbol:SLC24A1 semapv:UnspecifiedMatching OMIM:603617 SLC24A1 skos:exactMatch ncbigene:9187 semapv:UnspecifiedMatching -OMIM:603618 CDC20 skos:exactMatch hgnc:CDC20 semapv:UnspecifiedMatching +OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:1723 semapv:UnspecifiedMatching +OMIM:603618 CDC20 skos:exactMatch hgnc.symbol:CDC20 semapv:UnspecifiedMatching OMIM:603618 CDC20 skos:exactMatch ncbigene:991 semapv:UnspecifiedMatching OMIM:603619 FZR1 skos:exactMatch UMLS:C1428414 semapv:UnspecifiedMatching -OMIM:603619 FZR1 skos:exactMatch hgnc:FZR1 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:24824 semapv:UnspecifiedMatching +OMIM:603619 FZR1 skos:exactMatch hgnc.symbol:FZR1 semapv:UnspecifiedMatching OMIM:603619 FZR1 skos:exactMatch ncbigene:51343 semapv:UnspecifiedMatching -OMIM:603620 PSIP1 skos:exactMatch hgnc:PSIP1 semapv:UnspecifiedMatching +OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:9527 semapv:UnspecifiedMatching +OMIM:603620 PSIP1 skos:exactMatch hgnc.symbol:PSIP1 semapv:UnspecifiedMatching OMIM:603620 PSIP1 skos:exactMatch ncbigene:11168 semapv:UnspecifiedMatching -OMIM:603621 FOXH1 skos:exactMatch hgnc:FOXH1 semapv:UnspecifiedMatching +OMIM:603621 FOXH1 skos:exactMatch hgnc.symbol:3814 semapv:UnspecifiedMatching +OMIM:603621 FOXH1 skos:exactMatch hgnc.symbol:FOXH1 semapv:UnspecifiedMatching OMIM:603621 FOXH1 skos:exactMatch ncbigene:8928 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch UMLS:C1337037 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch UMLS:C1842237 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:603623 YARS1 skos:exactMatch hgnc:YARS1 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:12840 semapv:UnspecifiedMatching +OMIM:603623 YARS1 skos:exactMatch hgnc.symbol:YARS1 semapv:UnspecifiedMatching OMIM:603623 YARS1 skos:exactMatch ncbigene:8565 semapv:UnspecifiedMatching -OMIM:603624 RPS2 skos:exactMatch hgnc:RPS2 semapv:UnspecifiedMatching +OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:10404 semapv:UnspecifiedMatching +OMIM:603624 RPS2 skos:exactMatch hgnc.symbol:RPS2 semapv:UnspecifiedMatching OMIM:603624 RPS2 skos:exactMatch ncbigene:6187 semapv:UnspecifiedMatching -OMIM:603625 LY6H skos:exactMatch hgnc:LY6H semapv:UnspecifiedMatching +OMIM:603625 LY6H skos:exactMatch hgnc.symbol:6728 semapv:UnspecifiedMatching +OMIM:603625 LY6H skos:exactMatch hgnc.symbol:LY6H semapv:UnspecifiedMatching OMIM:603625 LY6H skos:exactMatch ncbigene:4062 semapv:UnspecifiedMatching -OMIM:603626 PCDH1 skos:exactMatch hgnc:PCDH1 semapv:UnspecifiedMatching +OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:8655 semapv:UnspecifiedMatching +OMIM:603626 PCDH1 skos:exactMatch hgnc.symbol:PCDH1 semapv:UnspecifiedMatching OMIM:603626 PCDH1 skos:exactMatch ncbigene:5097 semapv:UnspecifiedMatching -OMIM:603627 PCDHGC3 skos:exactMatch hgnc:PCDHGC3 semapv:UnspecifiedMatching +OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:8716 semapv:UnspecifiedMatching +OMIM:603627 PCDHGC3 skos:exactMatch hgnc.symbol:PCDHGC3 semapv:UnspecifiedMatching OMIM:603627 PCDHGC3 skos:exactMatch ncbigene:5098 semapv:UnspecifiedMatching -OMIM:603628 MSC skos:exactMatch hgnc:MSC semapv:UnspecifiedMatching +OMIM:603628 MSC skos:exactMatch hgnc.symbol:7321 semapv:UnspecifiedMatching +OMIM:603628 MSC skos:exactMatch hgnc.symbol:MSC semapv:UnspecifiedMatching OMIM:603628 MSC skos:exactMatch ncbigene:9242 semapv:UnspecifiedMatching -OMIM:603630 RPS5 skos:exactMatch hgnc:RPS5 semapv:UnspecifiedMatching +OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:10426 semapv:UnspecifiedMatching +OMIM:603630 RPS5 skos:exactMatch hgnc.symbol:RPS5 semapv:UnspecifiedMatching OMIM:603630 RPS5 skos:exactMatch ncbigene:6193 semapv:UnspecifiedMatching -OMIM:603631 RPS9 skos:exactMatch hgnc:RPS9 semapv:UnspecifiedMatching +OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:10442 semapv:UnspecifiedMatching +OMIM:603631 RPS9 skos:exactMatch hgnc.symbol:RPS9 semapv:UnspecifiedMatching OMIM:603631 RPS9 skos:exactMatch ncbigene:6203 semapv:UnspecifiedMatching -OMIM:603632 RPS10 skos:exactMatch hgnc:RPS10 semapv:UnspecifiedMatching +OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:10383 semapv:UnspecifiedMatching +OMIM:603632 RPS10 skos:exactMatch hgnc.symbol:RPS10 semapv:UnspecifiedMatching OMIM:603632 RPS10 skos:exactMatch ncbigene:6204 semapv:UnspecifiedMatching -OMIM:603633 RPS29 skos:exactMatch hgnc:RPS29 semapv:UnspecifiedMatching +OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:10419 semapv:UnspecifiedMatching +OMIM:603633 RPS29 skos:exactMatch hgnc.symbol:RPS29 semapv:UnspecifiedMatching OMIM:603633 RPS29 skos:exactMatch ncbigene:6235 semapv:UnspecifiedMatching -OMIM:603634 RPL5 skos:exactMatch hgnc:RPL5 semapv:UnspecifiedMatching +OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:10360 semapv:UnspecifiedMatching +OMIM:603634 RPL5 skos:exactMatch hgnc.symbol:RPL5 semapv:UnspecifiedMatching OMIM:603634 RPL5 skos:exactMatch ncbigene:6125 semapv:UnspecifiedMatching -OMIM:603635 SNORD21 skos:exactMatch hgnc:SNORD21 semapv:UnspecifiedMatching +OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:10144 semapv:UnspecifiedMatching +OMIM:603635 SNORD21 skos:exactMatch hgnc.symbol:SNORD21 semapv:UnspecifiedMatching OMIM:603635 SNORD21 skos:exactMatch ncbigene:6083 semapv:UnspecifiedMatching -OMIM:603636 RPL21 skos:exactMatch hgnc:RPL21 semapv:UnspecifiedMatching +OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:10313 semapv:UnspecifiedMatching +OMIM:603636 RPL21 skos:exactMatch hgnc.symbol:RPL21 semapv:UnspecifiedMatching OMIM:603636 RPL21 skos:exactMatch ncbigene:6144 semapv:UnspecifiedMatching -OMIM:603637 RPL27A skos:exactMatch hgnc:RPL27A semapv:UnspecifiedMatching +OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:10329 semapv:UnspecifiedMatching +OMIM:603637 RPL27A skos:exactMatch hgnc.symbol:RPL27A semapv:UnspecifiedMatching OMIM:603637 RPL27A skos:exactMatch ncbigene:6157 semapv:UnspecifiedMatching -OMIM:603638 RPL28 skos:exactMatch hgnc:RPL28 semapv:UnspecifiedMatching +OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:10330 semapv:UnspecifiedMatching +OMIM:603638 RPL28 skos:exactMatch hgnc.symbol:RPL28 semapv:UnspecifiedMatching OMIM:603638 RPL28 skos:exactMatch ncbigene:6158 semapv:UnspecifiedMatching -OMIM:603639 ADAM17 skos:exactMatch hgnc:ADAM17 semapv:UnspecifiedMatching +OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:195 semapv:UnspecifiedMatching +OMIM:603639 ADAM17 skos:exactMatch hgnc.symbol:ADAM17 semapv:UnspecifiedMatching OMIM:603639 ADAM17 skos:exactMatch ncbigene:6868 semapv:UnspecifiedMatching -OMIM:603640 ADAM19 skos:exactMatch hgnc:ADAM19 semapv:UnspecifiedMatching +OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:197 semapv:UnspecifiedMatching +OMIM:603640 ADAM19 skos:exactMatch hgnc.symbol:ADAM19 semapv:UnspecifiedMatching OMIM:603640 ADAM19 skos:exactMatch ncbigene:8728 semapv:UnspecifiedMatching OMIM:603644 SCO1 skos:exactMatch UMLS:C1419872 semapv:UnspecifiedMatching OMIM:603644 SCO1 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -OMIM:603644 SCO1 skos:exactMatch hgnc:SCO1 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:10603 semapv:UnspecifiedMatching +OMIM:603644 SCO1 skos:exactMatch hgnc.symbol:SCO1 semapv:UnspecifiedMatching OMIM:603644 SCO1 skos:exactMatch ncbigene:6341 semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch UMLS:C1418468 semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching -OMIM:603645 GATB skos:exactMatch hgnc:GATB semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch hgnc.symbol:8849 semapv:UnspecifiedMatching +OMIM:603645 GATB skos:exactMatch hgnc.symbol:GATB semapv:UnspecifiedMatching OMIM:603645 GATB skos:exactMatch ncbigene:5188 semapv:UnspecifiedMatching OMIM:603646 COX15 skos:exactMatch UMLS:C1413632 semapv:UnspecifiedMatching OMIM:603646 COX15 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching -OMIM:603646 COX15 skos:exactMatch hgnc:COX15 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch hgnc.symbol:2263 semapv:UnspecifiedMatching +OMIM:603646 COX15 skos:exactMatch hgnc.symbol:COX15 semapv:UnspecifiedMatching OMIM:603646 COX15 skos:exactMatch ncbigene:1355 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C0266006 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C1412777 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C1864002 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C3541471 semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch UMLS:C4016851 semapv:UnspecifiedMatching -OMIM:603647 BCS1L skos:exactMatch hgnc:BCS1L semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:1020 semapv:UnspecifiedMatching +OMIM:603647 BCS1L skos:exactMatch hgnc.symbol:BCS1L semapv:UnspecifiedMatching OMIM:603647 BCS1L skos:exactMatch ncbigene:617 semapv:UnspecifiedMatching -OMIM:603648 COX11 skos:exactMatch hgnc:COX11 semapv:UnspecifiedMatching +OMIM:603648 COX11 skos:exactMatch hgnc.symbol:2261 semapv:UnspecifiedMatching +OMIM:603648 COX11 skos:exactMatch hgnc.symbol:COX11 semapv:UnspecifiedMatching OMIM:603648 COX11 skos:exactMatch ncbigene:1353 semapv:UnspecifiedMatching -OMIM:603650 BBS5 skos:exactMatch hgnc:BBS5 semapv:UnspecifiedMatching +OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:970 semapv:UnspecifiedMatching +OMIM:603650 BBS5 skos:exactMatch hgnc.symbol:BBS5 semapv:UnspecifiedMatching OMIM:603650 BBS5 skos:exactMatch ncbigene:129880 semapv:UnspecifiedMatching -OMIM:603651 TRPC4 skos:exactMatch hgnc:TRPC4 semapv:UnspecifiedMatching +OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:12336 semapv:UnspecifiedMatching +OMIM:603651 TRPC4 skos:exactMatch hgnc.symbol:TRPC4 semapv:UnspecifiedMatching OMIM:603651 TRPC4 skos:exactMatch ncbigene:7223 semapv:UnspecifiedMatching -OMIM:603652 TRPC6 skos:exactMatch hgnc:TRPC6 semapv:UnspecifiedMatching +OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:12338 semapv:UnspecifiedMatching +OMIM:603652 TRPC6 skos:exactMatch hgnc.symbol:TRPC6 semapv:UnspecifiedMatching OMIM:603652 TRPC6 skos:exactMatch ncbigene:7225 semapv:UnspecifiedMatching -OMIM:603654 SLC16A7 skos:exactMatch hgnc:SLC16A7 semapv:UnspecifiedMatching +OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:10928 semapv:UnspecifiedMatching +OMIM:603654 SLC16A7 skos:exactMatch hgnc.symbol:SLC16A7 semapv:UnspecifiedMatching OMIM:603654 SLC16A7 skos:exactMatch ncbigene:9194 semapv:UnspecifiedMatching -OMIM:603657 VAMP3 skos:exactMatch hgnc:VAMP3 semapv:UnspecifiedMatching +OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:12644 semapv:UnspecifiedMatching +OMIM:603657 VAMP3 skos:exactMatch hgnc.symbol:VAMP3 semapv:UnspecifiedMatching OMIM:603657 VAMP3 skos:exactMatch ncbigene:9341 semapv:UnspecifiedMatching -OMIM:603658 RPS7 skos:exactMatch hgnc:RPS7 semapv:UnspecifiedMatching +OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:10440 semapv:UnspecifiedMatching +OMIM:603658 RPS7 skos:exactMatch hgnc.symbol:RPS7 semapv:UnspecifiedMatching OMIM:603658 RPS7 skos:exactMatch ncbigene:6201 semapv:UnspecifiedMatching -OMIM:603659 GLP2R skos:exactMatch hgnc:GLP2R semapv:UnspecifiedMatching +OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:4325 semapv:UnspecifiedMatching +OMIM:603659 GLP2R skos:exactMatch hgnc.symbol:GLP2R semapv:UnspecifiedMatching OMIM:603659 GLP2R skos:exactMatch ncbigene:9340 semapv:UnspecifiedMatching -OMIM:603660 RPS12 skos:exactMatch hgnc:RPS12 semapv:UnspecifiedMatching +OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:10385 semapv:UnspecifiedMatching +OMIM:603660 RPS12 skos:exactMatch hgnc.symbol:RPS12 semapv:UnspecifiedMatching OMIM:603660 RPS12 skos:exactMatch ncbigene:6206 semapv:UnspecifiedMatching -OMIM:603661 RPL17 skos:exactMatch hgnc:RPL17 semapv:UnspecifiedMatching +OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:10307 semapv:UnspecifiedMatching +OMIM:603661 RPL17 skos:exactMatch hgnc.symbol:RPL17 semapv:UnspecifiedMatching OMIM:603661 RPL17 skos:exactMatch ncbigene:6139 semapv:UnspecifiedMatching -OMIM:603662 RPL23 skos:exactMatch hgnc:RPL23 semapv:UnspecifiedMatching +OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:10316 semapv:UnspecifiedMatching +OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:RPL23 semapv:UnspecifiedMatching OMIM:603662 RPL23 skos:exactMatch ncbigene:9349 semapv:UnspecifiedMatching -OMIM:603665 STC2 skos:exactMatch hgnc:STC2 semapv:UnspecifiedMatching +OMIM:603665 STC2 skos:exactMatch hgnc.symbol:11374 semapv:UnspecifiedMatching +OMIM:603665 STC2 skos:exactMatch hgnc.symbol:STC2 semapv:UnspecifiedMatching OMIM:603665 STC2 skos:exactMatch ncbigene:8614 semapv:UnspecifiedMatching -OMIM:603666 STX16 skos:exactMatch hgnc:STX16 semapv:UnspecifiedMatching +OMIM:603666 STX16 skos:exactMatch hgnc.symbol:11431 semapv:UnspecifiedMatching +OMIM:603666 STX16 skos:exactMatch hgnc.symbol:STX16 semapv:UnspecifiedMatching OMIM:603666 STX16 skos:exactMatch ncbigene:8675 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch UMLS:C1420153 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching -OMIM:603667 SLC25A12 skos:exactMatch hgnc:SLC25A12 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:10982 semapv:UnspecifiedMatching +OMIM:603667 SLC25A12 skos:exactMatch hgnc.symbol:SLC25A12 semapv:UnspecifiedMatching OMIM:603667 SLC25A12 skos:exactMatch ncbigene:8604 semapv:UnspecifiedMatching -OMIM:603668 SCAF11 skos:exactMatch hgnc:SCAF11 semapv:UnspecifiedMatching +OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:10784 semapv:UnspecifiedMatching +OMIM:603668 SCAF11 skos:exactMatch hgnc.symbol:SCAF11 semapv:UnspecifiedMatching OMIM:603668 SCAF11 skos:exactMatch ncbigene:9169 semapv:UnspecifiedMatching -OMIM:603672 CBFA2T2 skos:exactMatch hgnc:CBFA2T2 semapv:UnspecifiedMatching +OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:1536 semapv:UnspecifiedMatching +OMIM:603672 CBFA2T2 skos:exactMatch hgnc.symbol:CBFA2T2 semapv:UnspecifiedMatching OMIM:603672 CBFA2T2 skos:exactMatch ncbigene:9139 semapv:UnspecifiedMatching -OMIM:603673 PTCH2 skos:exactMatch hgnc:PTCH2 semapv:UnspecifiedMatching +OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:9586 semapv:UnspecifiedMatching +OMIM:603673 PTCH2 skos:exactMatch hgnc.symbol:PTCH2 semapv:UnspecifiedMatching OMIM:603673 PTCH2 skos:exactMatch ncbigene:8643 semapv:UnspecifiedMatching -OMIM:603674 RPS15A skos:exactMatch hgnc:RPS15A semapv:UnspecifiedMatching +OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:10389 semapv:UnspecifiedMatching +OMIM:603674 RPS15A skos:exactMatch hgnc.symbol:RPS15A semapv:UnspecifiedMatching OMIM:603674 RPS15A skos:exactMatch ncbigene:6210 semapv:UnspecifiedMatching -OMIM:603675 RPS16 skos:exactMatch hgnc:RPS16 semapv:UnspecifiedMatching +OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:10396 semapv:UnspecifiedMatching +OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:RPS16 semapv:UnspecifiedMatching OMIM:603675 RPS16 skos:exactMatch ncbigene:6217 semapv:UnspecifiedMatching -OMIM:603679 UBE2N skos:exactMatch hgnc:UBE2N semapv:UnspecifiedMatching +OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:12492 semapv:UnspecifiedMatching +OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:UBE2N semapv:UnspecifiedMatching OMIM:603679 UBE2N skos:exactMatch ncbigene:7334 semapv:UnspecifiedMatching -OMIM:603680 ATXN8OS skos:exactMatch hgnc:ATXN8OS semapv:UnspecifiedMatching +OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:10561 semapv:UnspecifiedMatching +OMIM:603680 ATXN8OS skos:exactMatch hgnc.symbol:ATXN8OS semapv:UnspecifiedMatching OMIM:603680 ATXN8OS skos:exactMatch ncbigene:6315 semapv:UnspecifiedMatching -OMIM:603681 OTOF skos:exactMatch hgnc:OTOF semapv:UnspecifiedMatching +OMIM:603681 OTOF skos:exactMatch hgnc.symbol:8515 semapv:UnspecifiedMatching +OMIM:603681 OTOF skos:exactMatch hgnc.symbol:OTOF semapv:UnspecifiedMatching OMIM:603681 OTOF skos:exactMatch ncbigene:9381 semapv:UnspecifiedMatching -OMIM:603682 RPS20 skos:exactMatch hgnc:RPS20 semapv:UnspecifiedMatching +OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:10405 semapv:UnspecifiedMatching +OMIM:603682 RPS20 skos:exactMatch hgnc.symbol:RPS20 semapv:UnspecifiedMatching OMIM:603682 RPS20 skos:exactMatch ncbigene:6224 semapv:UnspecifiedMatching -OMIM:603683 RPS23 skos:exactMatch hgnc:RPS23 semapv:UnspecifiedMatching +OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:10410 semapv:UnspecifiedMatching +OMIM:603683 RPS23 skos:exactMatch hgnc.symbol:RPS23 semapv:UnspecifiedMatching OMIM:603683 RPS23 skos:exactMatch ncbigene:6228 semapv:UnspecifiedMatching -OMIM:603684 LIPG skos:exactMatch hgnc:LIPG semapv:UnspecifiedMatching +OMIM:603684 LIPG skos:exactMatch hgnc.symbol:6623 semapv:UnspecifiedMatching +OMIM:603684 LIPG skos:exactMatch hgnc.symbol:LIPG semapv:UnspecifiedMatching OMIM:603684 LIPG skos:exactMatch ncbigene:9388 semapv:UnspecifiedMatching -OMIM:603685 RPS28 skos:exactMatch hgnc:RPS28 semapv:UnspecifiedMatching +OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:10418 semapv:UnspecifiedMatching +OMIM:603685 RPS28 skos:exactMatch hgnc.symbol:RPS28 semapv:UnspecifiedMatching OMIM:603685 RPS28 skos:exactMatch ncbigene:6234 semapv:UnspecifiedMatching -OMIM:603686 RPL9 skos:exactMatch hgnc:RPL9 semapv:UnspecifiedMatching +OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:10369 semapv:UnspecifiedMatching +OMIM:603686 RPL9 skos:exactMatch hgnc.symbol:RPL9 semapv:UnspecifiedMatching OMIM:603686 RPL9 skos:exactMatch ncbigene:6133 semapv:UnspecifiedMatching -OMIM:603687 ALDH1A2 skos:exactMatch hgnc:ALDH1A2 semapv:UnspecifiedMatching +OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:15472 semapv:UnspecifiedMatching +OMIM:603687 ALDH1A2 skos:exactMatch hgnc.symbol:ALDH1A2 semapv:UnspecifiedMatching OMIM:603687 ALDH1A2 skos:exactMatch ncbigene:8854 semapv:UnspecifiedMatching -OMIM:603690 SLC33A1 skos:exactMatch hgnc:SLC33A1 semapv:UnspecifiedMatching +OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:95 semapv:UnspecifiedMatching +OMIM:603690 SLC33A1 skos:exactMatch hgnc.symbol:SLC33A1 semapv:UnspecifiedMatching OMIM:603690 SLC33A1 skos:exactMatch ncbigene:9197 semapv:UnspecifiedMatching -OMIM:603691 GALR2 skos:exactMatch hgnc:GALR2 semapv:UnspecifiedMatching +OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:4133 semapv:UnspecifiedMatching +OMIM:603691 GALR2 skos:exactMatch hgnc.symbol:GALR2 semapv:UnspecifiedMatching OMIM:603691 GALR2 skos:exactMatch ncbigene:8811 semapv:UnspecifiedMatching -OMIM:603692 GALR3 skos:exactMatch hgnc:GALR3 semapv:UnspecifiedMatching +OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:4134 semapv:UnspecifiedMatching +OMIM:603692 GALR3 skos:exactMatch hgnc.symbol:GALR3 semapv:UnspecifiedMatching OMIM:603692 GALR3 skos:exactMatch ncbigene:8484 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0013069 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch UMLS:C0039685 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1424490 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch UMLS:C1857781 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch UMLS:C4015129 semapv:UnspecifiedMatching -OMIM:603693 ZFPM2 skos:exactMatch hgnc:ZFPM2 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:16700 semapv:UnspecifiedMatching +OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:ZFPM2 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch ncbigene:23414 semapv:UnspecifiedMatching OMIM:603694 iia 2 diabetes mellitus 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching -OMIM:603695 GUCY1B2 skos:exactMatch hgnc:GUCY1B2 semapv:UnspecifiedMatching +OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:4686 semapv:UnspecifiedMatching +OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:GUCY1B2 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch ncbigene:2974 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch hgnc:SEPTIN4 semapv:UnspecifiedMatching +OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:9165 semapv:UnspecifiedMatching +OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:SEPTIN4 semapv:UnspecifiedMatching OMIM:603696 SEPT4 skos:exactMatch ncbigene:5414 semapv:UnspecifiedMatching -OMIM:603697 ALOX15B skos:exactMatch hgnc:ALOX15B semapv:UnspecifiedMatching +OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:434 semapv:UnspecifiedMatching +OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:ALOX15B semapv:UnspecifiedMatching OMIM:603697 ALOX15B skos:exactMatch ncbigene:247 semapv:UnspecifiedMatching -OMIM:603698 GBF1 skos:exactMatch hgnc:GBF1 semapv:UnspecifiedMatching +OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:4181 semapv:UnspecifiedMatching +OMIM:603698 GBF1 skos:exactMatch hgnc.symbol:GBF1 semapv:UnspecifiedMatching OMIM:603698 GBF1 skos:exactMatch ncbigene:8729 semapv:UnspecifiedMatching -OMIM:603699 WNT11 skos:exactMatch hgnc:WNT11 semapv:UnspecifiedMatching +OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:12776 semapv:UnspecifiedMatching +OMIM:603699 WNT11 skos:exactMatch hgnc.symbol:WNT11 semapv:UnspecifiedMatching OMIM:603699 WNT11 skos:exactMatch ncbigene:7481 semapv:UnspecifiedMatching -OMIM:603700 ALOX5AP skos:exactMatch hgnc:ALOX5AP semapv:UnspecifiedMatching +OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:436 semapv:UnspecifiedMatching +OMIM:603700 ALOX5AP skos:exactMatch hgnc.symbol:ALOX5AP semapv:UnspecifiedMatching OMIM:603700 ALOX5AP skos:exactMatch ncbigene:241 semapv:UnspecifiedMatching -OMIM:603701 RPS26 skos:exactMatch hgnc:RPS26 semapv:UnspecifiedMatching +OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:10414 semapv:UnspecifiedMatching +OMIM:603701 RPS26 skos:exactMatch hgnc.symbol:RPS26 semapv:UnspecifiedMatching OMIM:603701 RPS26 skos:exactMatch ncbigene:6231 semapv:UnspecifiedMatching -OMIM:603702 RPS27 skos:exactMatch hgnc:RPS27 semapv:UnspecifiedMatching +OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:10416 semapv:UnspecifiedMatching +OMIM:603702 RPS27 skos:exactMatch hgnc.symbol:RPS27 semapv:UnspecifiedMatching OMIM:603702 RPS27 skos:exactMatch ncbigene:6232 semapv:UnspecifiedMatching -OMIM:603703 RPL6 skos:exactMatch hgnc:RPL6 semapv:UnspecifiedMatching +OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:10362 semapv:UnspecifiedMatching +OMIM:603703 RPL6 skos:exactMatch hgnc.symbol:RPL6 semapv:UnspecifiedMatching OMIM:603703 RPL6 skos:exactMatch ncbigene:6128 semapv:UnspecifiedMatching -OMIM:603704 RPL26 skos:exactMatch hgnc:RPL26 semapv:UnspecifiedMatching +OMIM:603704 RPL26 skos:exactMatch hgnc.symbol:10327 semapv:UnspecifiedMatching +OMIM:603704 RPL26 skos:exactMatch hgnc.symbol:RPL26 semapv:UnspecifiedMatching OMIM:603704 RPL26 skos:exactMatch ncbigene:6154 semapv:UnspecifiedMatching -OMIM:603705 ANGPT4 skos:exactMatch hgnc:ANGPT4 semapv:UnspecifiedMatching +OMIM:603705 ANGPT4 skos:exactMatch hgnc.symbol:487 semapv:UnspecifiedMatching +OMIM:603705 ANGPT4 skos:exactMatch hgnc.symbol:ANGPT4 semapv:UnspecifiedMatching OMIM:603705 ANGPT4 skos:exactMatch ncbigene:51378 semapv:UnspecifiedMatching OMIM:603706 SEMA4F skos:exactMatch UMLS:C1419952 semapv:UnspecifiedMatching -OMIM:603706 SEMA4F skos:exactMatch hgnc:SEMA4F semapv:UnspecifiedMatching +OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:10734 semapv:UnspecifiedMatching +OMIM:603706 SEMA4F skos:exactMatch hgnc.symbol:SEMA4F semapv:UnspecifiedMatching OMIM:603706 SEMA4F skos:exactMatch ncbigene:10505 semapv:UnspecifiedMatching -OMIM:603707 MOCS1 skos:exactMatch hgnc:MOCS1 semapv:UnspecifiedMatching +OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:7190 semapv:UnspecifiedMatching +OMIM:603707 MOCS1 skos:exactMatch hgnc.symbol:MOCS1 semapv:UnspecifiedMatching OMIM:603707 MOCS1 skos:exactMatch ncbigene:4337 semapv:UnspecifiedMatching -OMIM:603708 MOCS2 skos:exactMatch hgnc:MOCS2 semapv:UnspecifiedMatching +OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:7193 semapv:UnspecifiedMatching +OMIM:603708 MOCS2 skos:exactMatch hgnc.symbol:MOCS2 semapv:UnspecifiedMatching OMIM:603708 MOCS2 skos:exactMatch ncbigene:4338 semapv:UnspecifiedMatching OMIM:603709 ADAM22 skos:exactMatch UMLS:C1412192 semapv:UnspecifiedMatching OMIM:603709 ADAM22 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching -OMIM:603709 ADAM22 skos:exactMatch hgnc:ADAM22 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:201 semapv:UnspecifiedMatching +OMIM:603709 ADAM22 skos:exactMatch hgnc.symbol:ADAM22 semapv:UnspecifiedMatching OMIM:603709 ADAM22 skos:exactMatch ncbigene:53616 semapv:UnspecifiedMatching -OMIM:603710 ADAM23 skos:exactMatch hgnc:ADAM23 semapv:UnspecifiedMatching +OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:202 semapv:UnspecifiedMatching +OMIM:603710 ADAM23 skos:exactMatch hgnc.symbol:ADAM23 semapv:UnspecifiedMatching OMIM:603710 ADAM23 skos:exactMatch ncbigene:8745 semapv:UnspecifiedMatching OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1413894 semapv:UnspecifiedMatching OMIM:603711 CYP7B1 skos:exactMatch UMLS:C1849115 semapv:UnspecifiedMatching OMIM:603711 CYP7B1 skos:exactMatch UMLS:C3151147 semapv:UnspecifiedMatching -OMIM:603711 CYP7B1 skos:exactMatch hgnc:CYP7B1 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch hgnc.symbol:2652 semapv:UnspecifiedMatching +OMIM:603711 CYP7B1 skos:exactMatch hgnc.symbol:CYP7B1 semapv:UnspecifiedMatching OMIM:603711 CYP7B1 skos:exactMatch ncbigene:9420 semapv:UnspecifiedMatching -OMIM:603712 ADAM20 skos:exactMatch hgnc:ADAM20 semapv:UnspecifiedMatching +OMIM:603712 ADAM20 skos:exactMatch hgnc.symbol:199 semapv:UnspecifiedMatching +OMIM:603712 ADAM20 skos:exactMatch hgnc.symbol:ADAM20 semapv:UnspecifiedMatching OMIM:603712 ADAM20 skos:exactMatch ncbigene:8748 semapv:UnspecifiedMatching -OMIM:603713 ADAM21 skos:exactMatch hgnc:ADAM21 semapv:UnspecifiedMatching +OMIM:603713 ADAM21 skos:exactMatch hgnc.symbol:200 semapv:UnspecifiedMatching +OMIM:603713 ADAM21 skos:exactMatch hgnc.symbol:ADAM21 semapv:UnspecifiedMatching OMIM:603713 ADAM21 skos:exactMatch ncbigene:8747 semapv:UnspecifiedMatching -OMIM:603714 SIX3 skos:exactMatch hgnc:SIX3 semapv:UnspecifiedMatching +OMIM:603714 SIX3 skos:exactMatch hgnc.symbol:10889 semapv:UnspecifiedMatching +OMIM:603714 SIX3 skos:exactMatch hgnc.symbol:SIX3 semapv:UnspecifiedMatching OMIM:603714 SIX3 skos:exactMatch ncbigene:6496 semapv:UnspecifiedMatching -OMIM:603715 GCM1 skos:exactMatch hgnc:GCM1 semapv:UnspecifiedMatching +OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:4197 semapv:UnspecifiedMatching +OMIM:603715 GCM1 skos:exactMatch hgnc.symbol:GCM1 semapv:UnspecifiedMatching OMIM:603715 GCM1 skos:exactMatch ncbigene:8521 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch UMLS:C1415017 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch UMLS:C4479229 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching -OMIM:603716 GCM2 skos:exactMatch hgnc:GCM2 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:4198 semapv:UnspecifiedMatching +OMIM:603716 GCM2 skos:exactMatch hgnc.symbol:GCM2 semapv:UnspecifiedMatching OMIM:603716 GCM2 skos:exactMatch ncbigene:9247 semapv:UnspecifiedMatching -OMIM:603717 ATP6V0B skos:exactMatch hgnc:ATP6V0B semapv:UnspecifiedMatching +OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:861 semapv:UnspecifiedMatching +OMIM:603717 ATP6V0B skos:exactMatch hgnc.symbol:ATP6V0B semapv:UnspecifiedMatching OMIM:603717 ATP6V0B skos:exactMatch ncbigene:533 semapv:UnspecifiedMatching -OMIM:603718 CLDN1 skos:exactMatch hgnc:CLDN1 semapv:UnspecifiedMatching +OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:2032 semapv:UnspecifiedMatching +OMIM:603718 CLDN1 skos:exactMatch hgnc.symbol:CLDN1 semapv:UnspecifiedMatching OMIM:603718 CLDN1 skos:exactMatch ncbigene:9076 semapv:UnspecifiedMatching -OMIM:603719 BUB3 skos:exactMatch hgnc:BUB3 semapv:UnspecifiedMatching +OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:1151 semapv:UnspecifiedMatching +OMIM:603719 BUB3 skos:exactMatch hgnc.symbol:BUB3 semapv:UnspecifiedMatching OMIM:603719 BUB3 skos:exactMatch ncbigene:9184 semapv:UnspecifiedMatching -OMIM:603721 UBE2L3 skos:exactMatch hgnc:UBE2L3 semapv:UnspecifiedMatching +OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:12488 semapv:UnspecifiedMatching +OMIM:603721 UBE2L3 skos:exactMatch hgnc.symbol:UBE2L3 semapv:UnspecifiedMatching OMIM:603721 UBE2L3 skos:exactMatch ncbigene:7332 semapv:UnspecifiedMatching OMIM:603722 ELP1 skos:exactMatch UMLS:C0013364 semapv:UnspecifiedMatching OMIM:603722 ELP1 skos:exactMatch UMLS:C1416379 semapv:UnspecifiedMatching -OMIM:603722 ELP1 skos:exactMatch hgnc:ELP1 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:5959 semapv:UnspecifiedMatching +OMIM:603722 ELP1 skos:exactMatch hgnc.symbol:ELP1 semapv:UnspecifiedMatching OMIM:603722 ELP1 skos:exactMatch ncbigene:8518 semapv:UnspecifiedMatching -OMIM:603725 FGF17 skos:exactMatch hgnc:FGF17 semapv:UnspecifiedMatching +OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:3673 semapv:UnspecifiedMatching +OMIM:603725 FGF17 skos:exactMatch hgnc.symbol:FGF17 semapv:UnspecifiedMatching OMIM:603725 FGF17 skos:exactMatch ncbigene:8822 semapv:UnspecifiedMatching -OMIM:603726 FGF18 skos:exactMatch hgnc:FGF18 semapv:UnspecifiedMatching +OMIM:603726 FGF18 skos:exactMatch hgnc.symbol:3674 semapv:UnspecifiedMatching +OMIM:603726 FGF18 skos:exactMatch hgnc.symbol:FGF18 semapv:UnspecifiedMatching OMIM:603726 FGF18 skos:exactMatch ncbigene:8817 semapv:UnspecifiedMatching -OMIM:603727 QARS1 skos:exactMatch hgnc:QARS1 semapv:UnspecifiedMatching +OMIM:603727 QARS1 skos:exactMatch hgnc.symbol:9751 semapv:UnspecifiedMatching +OMIM:603727 QARS1 skos:exactMatch hgnc.symbol:QARS1 semapv:UnspecifiedMatching OMIM:603727 QARS1 skos:exactMatch ncbigene:5859 semapv:UnspecifiedMatching OMIM:603728 NUMB skos:exactMatch UMLS:C1417890 semapv:UnspecifiedMatching -OMIM:603728 NUMB skos:exactMatch hgnc:NUMB semapv:UnspecifiedMatching +OMIM:603728 NUMB skos:exactMatch hgnc.symbol:8060 semapv:UnspecifiedMatching +OMIM:603728 NUMB skos:exactMatch hgnc.symbol:NUMB semapv:UnspecifiedMatching OMIM:603728 NUMB skos:exactMatch ncbigene:8650 semapv:UnspecifiedMatching -OMIM:603729 SGPL1 skos:exactMatch hgnc:SGPL1 semapv:UnspecifiedMatching +OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:10817 semapv:UnspecifiedMatching +OMIM:603729 SGPL1 skos:exactMatch hgnc.symbol:SGPL1 semapv:UnspecifiedMatching OMIM:603729 SGPL1 skos:exactMatch ncbigene:8879 semapv:UnspecifiedMatching -OMIM:603730 SPHK1 skos:exactMatch hgnc:SPHK1 semapv:UnspecifiedMatching +OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:11240 semapv:UnspecifiedMatching +OMIM:603730 SPHK1 skos:exactMatch hgnc.symbol:SPHK1 semapv:UnspecifiedMatching OMIM:603730 SPHK1 skos:exactMatch ncbigene:8877 semapv:UnspecifiedMatching -OMIM:603731 CNOT8 skos:exactMatch hgnc:CNOT8 semapv:UnspecifiedMatching +OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:9207 semapv:UnspecifiedMatching +OMIM:603731 CNOT8 skos:exactMatch hgnc.symbol:CNOT8 semapv:UnspecifiedMatching OMIM:603731 CNOT8 skos:exactMatch ncbigene:9337 semapv:UnspecifiedMatching -OMIM:603732 CRY2 skos:exactMatch hgnc:CRY2 semapv:UnspecifiedMatching +OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:2385 semapv:UnspecifiedMatching +OMIM:603732 CRY2 skos:exactMatch hgnc.symbol:CRY2 semapv:UnspecifiedMatching OMIM:603732 CRY2 skos:exactMatch ncbigene:1408 semapv:UnspecifiedMatching -OMIM:603733 SLC43A1 skos:exactMatch hgnc:SLC43A1 semapv:UnspecifiedMatching +OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:9225 semapv:UnspecifiedMatching +OMIM:603733 SLC43A1 skos:exactMatch hgnc.symbol:SLC43A1 semapv:UnspecifiedMatching OMIM:603733 SLC43A1 skos:exactMatch ncbigene:8501 semapv:UnspecifiedMatching -OMIM:603734 IRF3 skos:exactMatch hgnc:IRF3 semapv:UnspecifiedMatching +OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:6118 semapv:UnspecifiedMatching +OMIM:603734 IRF3 skos:exactMatch hgnc.symbol:IRF3 semapv:UnspecifiedMatching OMIM:603734 IRF3 skos:exactMatch ncbigene:3661 semapv:UnspecifiedMatching -OMIM:603735 AOC3 skos:exactMatch hgnc:AOC3 semapv:UnspecifiedMatching +OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:550 semapv:UnspecifiedMatching +OMIM:603735 AOC3 skos:exactMatch hgnc.symbol:AOC3 semapv:UnspecifiedMatching OMIM:603735 AOC3 skos:exactMatch ncbigene:8639 semapv:UnspecifiedMatching +OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch Orphanet:3047 semapv:UnspecifiedMatching OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching -OMIM:603736 ohdo syndrome, sbbys variant skos:exactMatch orphanet.ordo:3047 semapv:UnspecifiedMatching -OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc:BTF3P12 semapv:UnspecifiedMatching -OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc:BTF3P13 semapv:UnspecifiedMatching +OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:1127 semapv:UnspecifiedMatching +OMIM:603738 basic transcription factor 3 pseudogene 12 skos:exactMatch hgnc.symbol:BTF3P12 semapv:UnspecifiedMatching +OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:1128 semapv:UnspecifiedMatching +OMIM:603739 basic transcription factor 3 pseudogene 13 skos:exactMatch hgnc.symbol:BTF3P13 semapv:UnspecifiedMatching OMIM:603740 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia skos:exactMatch UMLS:C1863556 semapv:UnspecifiedMatching -OMIM:603741 ALOX12B skos:exactMatch hgnc:ALOX12B semapv:UnspecifiedMatching +OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:430 semapv:UnspecifiedMatching +OMIM:603741 ALOX12B skos:exactMatch hgnc.symbol:ALOX12B semapv:UnspecifiedMatching OMIM:603741 ALOX12B skos:exactMatch ncbigene:242 semapv:UnspecifiedMatching -OMIM:603742 SLIT1 skos:exactMatch hgnc:SLIT1 semapv:UnspecifiedMatching +OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:11085 semapv:UnspecifiedMatching +OMIM:603742 SLIT1 skos:exactMatch hgnc.symbol:SLIT1 semapv:UnspecifiedMatching OMIM:603742 SLIT1 skos:exactMatch ncbigene:6585 semapv:UnspecifiedMatching -OMIM:603743 APOL1 skos:exactMatch hgnc:APOL1 semapv:UnspecifiedMatching +OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:618 semapv:UnspecifiedMatching +OMIM:603743 APOL1 skos:exactMatch hgnc.symbol:APOL1 semapv:UnspecifiedMatching OMIM:603743 APOL1 skos:exactMatch ncbigene:8542 semapv:UnspecifiedMatching -OMIM:603745 SLIT3 skos:exactMatch hgnc:SLIT3 semapv:UnspecifiedMatching +OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:11087 semapv:UnspecifiedMatching +OMIM:603745 SLIT3 skos:exactMatch hgnc.symbol:SLIT3 semapv:UnspecifiedMatching OMIM:603745 SLIT3 skos:exactMatch ncbigene:6586 semapv:UnspecifiedMatching OMIM:603746 SLIT2 skos:exactMatch UMLS:C1420244 semapv:UnspecifiedMatching -OMIM:603746 SLIT2 skos:exactMatch hgnc:SLIT2 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:11086 semapv:UnspecifiedMatching +OMIM:603746 SLIT2 skos:exactMatch hgnc.symbol:SLIT2 semapv:UnspecifiedMatching OMIM:603746 SLIT2 skos:exactMatch ncbigene:9353 semapv:UnspecifiedMatching -OMIM:603747 TPD52L2 skos:exactMatch hgnc:TPD52L2 semapv:UnspecifiedMatching +OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:12007 semapv:UnspecifiedMatching +OMIM:603747 TPD52L2 skos:exactMatch hgnc.symbol:TPD52L2 semapv:UnspecifiedMatching OMIM:603747 TPD52L2 skos:exactMatch ncbigene:7165 semapv:UnspecifiedMatching OMIM:603749 TRPM2 skos:exactMatch UMLS:C1421174 semapv:UnspecifiedMatching -OMIM:603749 TRPM2 skos:exactMatch hgnc:TRPM2 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:12339 semapv:UnspecifiedMatching +OMIM:603749 TRPM2 skos:exactMatch hgnc.symbol:TRPM2 semapv:UnspecifiedMatching OMIM:603749 TRPM2 skos:exactMatch ncbigene:7226 semapv:UnspecifiedMatching -OMIM:603750 AQP8 skos:exactMatch hgnc:AQP8 semapv:UnspecifiedMatching +OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:642 semapv:UnspecifiedMatching +OMIM:603750 AQP8 skos:exactMatch hgnc.symbol:AQP8 semapv:UnspecifiedMatching OMIM:603750 AQP8 skos:exactMatch ncbigene:343 semapv:UnspecifiedMatching -OMIM:603751 S1PR4 skos:exactMatch hgnc:S1PR4 semapv:UnspecifiedMatching +OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:3170 semapv:UnspecifiedMatching +OMIM:603751 S1PR4 skos:exactMatch hgnc.symbol:S1PR4 semapv:UnspecifiedMatching OMIM:603751 S1PR4 skos:exactMatch ncbigene:8698 semapv:UnspecifiedMatching -OMIM:603752 SLC7A4 skos:exactMatch hgnc:SLC7A4 semapv:UnspecifiedMatching +OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:11062 semapv:UnspecifiedMatching +OMIM:603752 SLC7A4 skos:exactMatch hgnc.symbol:SLC7A4 semapv:UnspecifiedMatching OMIM:603752 SLC7A4 skos:exactMatch ncbigene:6545 semapv:UnspecifiedMatching -OMIM:603753 UBE4A skos:exactMatch hgnc:UBE4A semapv:UnspecifiedMatching +OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:12499 semapv:UnspecifiedMatching +OMIM:603753 UBE4A skos:exactMatch hgnc.symbol:UBE4A semapv:UnspecifiedMatching OMIM:603753 UBE4A skos:exactMatch ncbigene:9354 semapv:UnspecifiedMatching OMIM:603754 KIF3B skos:exactMatch UMLS:C1416635 semapv:UnspecifiedMatching OMIM:603754 KIF3B skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching -OMIM:603754 KIF3B skos:exactMatch hgnc:KIF3B semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:6320 semapv:UnspecifiedMatching +OMIM:603754 KIF3B skos:exactMatch hgnc.symbol:KIF3B semapv:UnspecifiedMatching OMIM:603754 KIF3B skos:exactMatch ncbigene:9371 semapv:UnspecifiedMatching -OMIM:603755 ZFYVE9 skos:exactMatch hgnc:ZFYVE9 semapv:UnspecifiedMatching +OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:6775 semapv:UnspecifiedMatching +OMIM:603755 ZFYVE9 skos:exactMatch hgnc.symbol:ZFYVE9 semapv:UnspecifiedMatching OMIM:603755 ZFYVE9 skos:exactMatch ncbigene:9372 semapv:UnspecifiedMatching -OMIM:603756 ABCG2 skos:exactMatch hgnc:ABCG2 semapv:UnspecifiedMatching +OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:74 semapv:UnspecifiedMatching +OMIM:603756 ABCG2 skos:exactMatch hgnc.symbol:ABCG2 semapv:UnspecifiedMatching OMIM:603756 ABCG2 skos:exactMatch ncbigene:9429 semapv:UnspecifiedMatching -OMIM:603757 CCL18 skos:exactMatch hgnc:CCL18 semapv:UnspecifiedMatching +OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:10616 semapv:UnspecifiedMatching +OMIM:603757 CCL18 skos:exactMatch hgnc.symbol:CCL18 semapv:UnspecifiedMatching OMIM:603757 CCL18 skos:exactMatch ncbigene:6362 semapv:UnspecifiedMatching -OMIM:603758 GSTZ1 skos:exactMatch hgnc:GSTZ1 semapv:UnspecifiedMatching +OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:4643 semapv:UnspecifiedMatching +OMIM:603758 GSTZ1 skos:exactMatch hgnc.symbol:GSTZ1 semapv:UnspecifiedMatching OMIM:603758 GSTZ1 skos:exactMatch ncbigene:2954 semapv:UnspecifiedMatching -OMIM:603759 LHX2 skos:exactMatch hgnc:LHX2 semapv:UnspecifiedMatching +OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:6594 semapv:UnspecifiedMatching +OMIM:603759 LHX2 skos:exactMatch hgnc.symbol:LHX2 semapv:UnspecifiedMatching OMIM:603759 LHX2 skos:exactMatch ncbigene:9355 semapv:UnspecifiedMatching -OMIM:603760 HUS1 skos:exactMatch hgnc:HUS1 semapv:UnspecifiedMatching +OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:5309 semapv:UnspecifiedMatching +OMIM:603760 HUS1 skos:exactMatch hgnc.symbol:HUS1 semapv:UnspecifiedMatching OMIM:603760 HUS1 skos:exactMatch ncbigene:3364 semapv:UnspecifiedMatching -OMIM:603761 RAD9A skos:exactMatch hgnc:RAD9A semapv:UnspecifiedMatching +OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:9827 semapv:UnspecifiedMatching +OMIM:603761 RAD9A skos:exactMatch hgnc.symbol:RAD9A semapv:UnspecifiedMatching OMIM:603761 RAD9A skos:exactMatch ncbigene:5883 semapv:UnspecifiedMatching -OMIM:603762 PRPSAP2 skos:exactMatch hgnc:PRPSAP2 semapv:UnspecifiedMatching +OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:9467 semapv:UnspecifiedMatching +OMIM:603762 PRPSAP2 skos:exactMatch hgnc.symbol:PRPSAP2 semapv:UnspecifiedMatching OMIM:603762 PRPSAP2 skos:exactMatch ncbigene:5636 semapv:UnspecifiedMatching -OMIM:603763 KIFC1 skos:exactMatch hgnc:KIFC1 semapv:UnspecifiedMatching +OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:6389 semapv:UnspecifiedMatching +OMIM:603763 KIFC1 skos:exactMatch hgnc.symbol:KIFC1 semapv:UnspecifiedMatching OMIM:603763 KIFC1 skos:exactMatch ncbigene:3833 semapv:UnspecifiedMatching -OMIM:603764 CDK5R2 skos:exactMatch hgnc:CDK5R2 semapv:UnspecifiedMatching +OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:1776 semapv:UnspecifiedMatching +OMIM:603764 CDK5R2 skos:exactMatch hgnc.symbol:CDK5R2 semapv:UnspecifiedMatching OMIM:603764 CDK5R2 skos:exactMatch ncbigene:8941 semapv:UnspecifiedMatching -OMIM:603765 STX10 skos:exactMatch hgnc:STX10 semapv:UnspecifiedMatching +OMIM:603765 STX10 skos:exactMatch hgnc.symbol:11428 semapv:UnspecifiedMatching +OMIM:603765 STX10 skos:exactMatch hgnc.symbol:STX10 semapv:UnspecifiedMatching OMIM:603765 STX10 skos:exactMatch ncbigene:8677 semapv:UnspecifiedMatching -OMIM:603766 MTIF2 skos:exactMatch hgnc:MTIF2 semapv:UnspecifiedMatching +OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:7441 semapv:UnspecifiedMatching +OMIM:603766 MTIF2 skos:exactMatch hgnc.symbol:MTIF2 semapv:UnspecifiedMatching OMIM:603766 MTIF2 skos:exactMatch ncbigene:4528 semapv:UnspecifiedMatching -OMIM:603767 KLK4 skos:exactMatch hgnc:KLK4 semapv:UnspecifiedMatching +OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:6365 semapv:UnspecifiedMatching +OMIM:603767 KLK4 skos:exactMatch hgnc.symbol:KLK4 semapv:UnspecifiedMatching OMIM:603767 KLK4 skos:exactMatch ncbigene:9622 semapv:UnspecifiedMatching -OMIM:603768 PPP1R12B skos:exactMatch hgnc:PPP1R12B semapv:UnspecifiedMatching +OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:7619 semapv:UnspecifiedMatching +OMIM:603768 PPP1R12B skos:exactMatch hgnc.symbol:PPP1R12B semapv:UnspecifiedMatching OMIM:603768 PPP1R12B skos:exactMatch ncbigene:4660 semapv:UnspecifiedMatching -OMIM:603769 TCL1B skos:exactMatch hgnc:TCL1B semapv:UnspecifiedMatching +OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:11649 semapv:UnspecifiedMatching +OMIM:603769 TCL1B skos:exactMatch hgnc.symbol:TCL1B semapv:UnspecifiedMatching OMIM:603769 TCL1B skos:exactMatch ncbigene:9623 semapv:UnspecifiedMatching -OMIM:603770 PPM1B skos:exactMatch hgnc:PPM1B semapv:UnspecifiedMatching +OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:9276 semapv:UnspecifiedMatching +OMIM:603770 PPM1B skos:exactMatch hgnc.symbol:PPM1B semapv:UnspecifiedMatching OMIM:603770 PPM1B skos:exactMatch ncbigene:5495 semapv:UnspecifiedMatching -OMIM:603771 PPP1R10 skos:exactMatch hgnc:PPP1R10 semapv:UnspecifiedMatching +OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:9284 semapv:UnspecifiedMatching +OMIM:603771 PPP1R10 skos:exactMatch hgnc.symbol:PPP1R10 semapv:UnspecifiedMatching OMIM:603771 PPP1R10 skos:exactMatch ncbigene:5514 semapv:UnspecifiedMatching -OMIM:603772 DYNC1I1 skos:exactMatch hgnc:DYNC1I1 semapv:UnspecifiedMatching +OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:2963 semapv:UnspecifiedMatching +OMIM:603772 DYNC1I1 skos:exactMatch hgnc.symbol:DYNC1I1 semapv:UnspecifiedMatching OMIM:603772 DYNC1I1 skos:exactMatch ncbigene:1780 semapv:UnspecifiedMatching OMIM:603773 COX5A skos:exactMatch UMLS:C1413636 semapv:UnspecifiedMatching OMIM:603773 COX5A skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -OMIM:603773 COX5A skos:exactMatch hgnc:COX5A semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch hgnc.symbol:2267 semapv:UnspecifiedMatching +OMIM:603773 COX5A skos:exactMatch hgnc.symbol:COX5A semapv:UnspecifiedMatching OMIM:603773 COX5A skos:exactMatch ncbigene:9377 semapv:UnspecifiedMatching -OMIM:603774 COX7C skos:exactMatch hgnc:COX7C semapv:UnspecifiedMatching +OMIM:603774 COX7C skos:exactMatch hgnc.symbol:2292 semapv:UnspecifiedMatching +OMIM:603774 COX7C skos:exactMatch hgnc.symbol:COX7C semapv:UnspecifiedMatching OMIM:603774 COX7C skos:exactMatch ncbigene:1350 semapv:UnspecifiedMatching -OMIM:603775 CCNE2 skos:exactMatch hgnc:CCNE2 semapv:UnspecifiedMatching +OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:1590 semapv:UnspecifiedMatching +OMIM:603775 CCNE2 skos:exactMatch hgnc.symbol:CCNE2 semapv:UnspecifiedMatching OMIM:603775 CCNE2 skos:exactMatch ncbigene:9134 semapv:UnspecifiedMatching -OMIM:603777 CER1 skos:exactMatch hgnc:CER1 semapv:UnspecifiedMatching +OMIM:603777 CER1 skos:exactMatch hgnc.symbol:1862 semapv:UnspecifiedMatching +OMIM:603777 CER1 skos:exactMatch hgnc.symbol:CER1 semapv:UnspecifiedMatching OMIM:603777 CER1 skos:exactMatch ncbigene:9350 semapv:UnspecifiedMatching OMIM:603778 CDYL skos:exactMatch UMLS:C1413305 semapv:UnspecifiedMatching -OMIM:603778 CDYL skos:exactMatch hgnc:CDYL semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch hgnc.symbol:1811 semapv:UnspecifiedMatching +OMIM:603778 CDYL skos:exactMatch hgnc.symbol:CDYL semapv:UnspecifiedMatching OMIM:603778 CDYL skos:exactMatch ncbigene:9425 semapv:UnspecifiedMatching OMIM:603779 SNCAIP skos:exactMatch UMLS:C1420277 semapv:UnspecifiedMatching OMIM:603779 SNCAIP skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:603779 SNCAIP skos:exactMatch hgnc:SNCAIP semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:11139 semapv:UnspecifiedMatching +OMIM:603779 SNCAIP skos:exactMatch hgnc.symbol:SNCAIP semapv:UnspecifiedMatching OMIM:603779 SNCAIP skos:exactMatch ncbigene:9627 semapv:UnspecifiedMatching -OMIM:603780 RECQL4 skos:exactMatch hgnc:RECQL4 semapv:UnspecifiedMatching +OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:9949 semapv:UnspecifiedMatching +OMIM:603780 RECQL4 skos:exactMatch hgnc.symbol:RECQL4 semapv:UnspecifiedMatching OMIM:603780 RECQL4 skos:exactMatch ncbigene:9401 semapv:UnspecifiedMatching -OMIM:603781 RECQL5 skos:exactMatch hgnc:RECQL5 semapv:UnspecifiedMatching +OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:9950 semapv:UnspecifiedMatching +OMIM:603781 RECQL5 skos:exactMatch hgnc.symbol:RECQL5 semapv:UnspecifiedMatching OMIM:603781 RECQL5 skos:exactMatch ncbigene:9400 semapv:UnspecifiedMatching -OMIM:603782 CCL4L1 skos:exactMatch hgnc:CCL4L1 semapv:UnspecifiedMatching +OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:10631 semapv:UnspecifiedMatching +OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:CCL4L1 semapv:UnspecifiedMatching OMIM:603782 CCL4L1 skos:exactMatch ncbigene:388372 semapv:UnspecifiedMatching -OMIM:603784 PTTG1IP skos:exactMatch hgnc:PTTG1IP semapv:UnspecifiedMatching +OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:13524 semapv:UnspecifiedMatching +OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:PTTG1IP semapv:UnspecifiedMatching OMIM:603784 PTTG1IP skos:exactMatch ncbigene:754 semapv:UnspecifiedMatching -OMIM:603785 MPDZ skos:exactMatch hgnc:MPDZ semapv:UnspecifiedMatching +OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:7208 semapv:UnspecifiedMatching +OMIM:603785 MPDZ skos:exactMatch hgnc.symbol:MPDZ semapv:UnspecifiedMatching OMIM:603785 MPDZ skos:exactMatch ncbigene:8777 semapv:UnspecifiedMatching +OMIM:603786 stargardt disease 4 skos:exactMatch Orphanet:827 semapv:UnspecifiedMatching OMIM:603786 stargardt disease 4 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching -OMIM:603786 stargardt disease 4 skos:exactMatch orphanet.ordo:827 semapv:UnspecifiedMatching -OMIM:603787 KCNF1 skos:exactMatch hgnc:KCNF1 semapv:UnspecifiedMatching +OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:6246 semapv:UnspecifiedMatching +OMIM:603787 KCNF1 skos:exactMatch hgnc.symbol:KCNF1 semapv:UnspecifiedMatching OMIM:603787 KCNF1 skos:exactMatch ncbigene:3754 semapv:UnspecifiedMatching -OMIM:603788 KCNG1 skos:exactMatch hgnc:KCNG1 semapv:UnspecifiedMatching +OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:6248 semapv:UnspecifiedMatching +OMIM:603788 KCNG1 skos:exactMatch hgnc.symbol:KCNG1 semapv:UnspecifiedMatching OMIM:603788 KCNG1 skos:exactMatch ncbigene:3755 semapv:UnspecifiedMatching -OMIM:603790 SLC23A1 skos:exactMatch hgnc:SLC23A1 semapv:UnspecifiedMatching +OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:10974 semapv:UnspecifiedMatching +OMIM:603790 SLC23A1 skos:exactMatch hgnc.symbol:SLC23A1 semapv:UnspecifiedMatching OMIM:603790 SLC23A1 skos:exactMatch ncbigene:9963 semapv:UnspecifiedMatching -OMIM:603791 SLC23A2 skos:exactMatch hgnc:SLC23A2 semapv:UnspecifiedMatching +OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:10973 semapv:UnspecifiedMatching +OMIM:603791 SLC23A2 skos:exactMatch hgnc.symbol:SLC23A2 semapv:UnspecifiedMatching OMIM:603791 SLC23A2 skos:exactMatch ncbigene:9962 semapv:UnspecifiedMatching OMIM:603794 hydroa vacciniforme, familial skos:exactMatch UMLS:C1863533 semapv:UnspecifiedMatching OMIM:603795 LITAF skos:exactMatch UMLS:C0270913 semapv:UnspecifiedMatching OMIM:603795 LITAF skos:exactMatch UMLS:C1424587 semapv:UnspecifiedMatching -OMIM:603795 LITAF skos:exactMatch hgnc:LITAF semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch hgnc.symbol:16841 semapv:UnspecifiedMatching +OMIM:603795 LITAF skos:exactMatch hgnc.symbol:LITAF semapv:UnspecifiedMatching OMIM:603795 LITAF skos:exactMatch ncbigene:9516 semapv:UnspecifiedMatching -OMIM:603796 KCNE2 skos:exactMatch hgnc:KCNE2 semapv:UnspecifiedMatching +OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:6242 semapv:UnspecifiedMatching +OMIM:603796 KCNE2 skos:exactMatch hgnc.symbol:KCNE2 semapv:UnspecifiedMatching OMIM:603796 KCNE2 skos:exactMatch ncbigene:9992 semapv:UnspecifiedMatching -OMIM:603797 CHST1 skos:exactMatch hgnc:CHST1 semapv:UnspecifiedMatching +OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:1969 semapv:UnspecifiedMatching +OMIM:603797 CHST1 skos:exactMatch hgnc.symbol:CHST1 semapv:UnspecifiedMatching OMIM:603797 CHST1 skos:exactMatch ncbigene:8534 semapv:UnspecifiedMatching OMIM:603798 CHST2 skos:exactMatch UMLS:C1413415 semapv:UnspecifiedMatching -OMIM:603798 CHST2 skos:exactMatch hgnc:CHST2 semapv:UnspecifiedMatching +OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:1970 semapv:UnspecifiedMatching +OMIM:603798 CHST2 skos:exactMatch hgnc.symbol:CHST2 semapv:UnspecifiedMatching OMIM:603798 CHST2 skos:exactMatch ncbigene:9435 semapv:UnspecifiedMatching -OMIM:603799 CHST3 skos:exactMatch hgnc:CHST3 semapv:UnspecifiedMatching +OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:1971 semapv:UnspecifiedMatching +OMIM:603799 CHST3 skos:exactMatch hgnc.symbol:CHST3 semapv:UnspecifiedMatching OMIM:603799 CHST3 skos:exactMatch ncbigene:9469 semapv:UnspecifiedMatching -OMIM:603800 MED21 skos:exactMatch hgnc:MED21 semapv:UnspecifiedMatching +OMIM:603800 MED21 skos:exactMatch hgnc.symbol:11473 semapv:UnspecifiedMatching +OMIM:603800 MED21 skos:exactMatch hgnc.symbol:MED21 semapv:UnspecifiedMatching OMIM:603800 MED21 skos:exactMatch ncbigene:9412 semapv:UnspecifiedMatching -OMIM:603801 NMT2 skos:exactMatch hgnc:NMT2 semapv:UnspecifiedMatching +OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:7858 semapv:UnspecifiedMatching +OMIM:603801 NMT2 skos:exactMatch hgnc.symbol:NMT2 semapv:UnspecifiedMatching OMIM:603801 NMT2 skos:exactMatch ncbigene:9397 semapv:UnspecifiedMatching OMIM:603803 DACH1 skos:exactMatch UMLS:C1413899 semapv:UnspecifiedMatching -OMIM:603803 DACH1 skos:exactMatch hgnc:DACH1 semapv:UnspecifiedMatching +OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:2663 semapv:UnspecifiedMatching +OMIM:603803 DACH1 skos:exactMatch hgnc.symbol:DACH1 semapv:UnspecifiedMatching OMIM:603803 DACH1 skos:exactMatch ncbigene:1602 semapv:UnspecifiedMatching -OMIM:603804 NEURL1 skos:exactMatch hgnc:NEURL1 semapv:UnspecifiedMatching +OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:7761 semapv:UnspecifiedMatching +OMIM:603804 NEURL1 skos:exactMatch hgnc.symbol:NEURL1 semapv:UnspecifiedMatching OMIM:603804 NEURL1 skos:exactMatch ncbigene:9148 semapv:UnspecifiedMatching -OMIM:603805 TGM5 skos:exactMatch hgnc:TGM5 semapv:UnspecifiedMatching +OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:11781 semapv:UnspecifiedMatching +OMIM:603805 TGM5 skos:exactMatch hgnc.symbol:TGM5 semapv:UnspecifiedMatching OMIM:603805 TGM5 skos:exactMatch ncbigene:9333 semapv:UnspecifiedMatching OMIM:603808 MED13 skos:exactMatch UMLS:C1427770 semapv:UnspecifiedMatching OMIM:603808 MED13 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching -OMIM:603808 MED13 skos:exactMatch hgnc:MED13 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch hgnc.symbol:22474 semapv:UnspecifiedMatching +OMIM:603808 MED13 skos:exactMatch hgnc.symbol:MED13 semapv:UnspecifiedMatching OMIM:603808 MED13 skos:exactMatch ncbigene:9969 semapv:UnspecifiedMatching -OMIM:603809 THRAP3 skos:exactMatch hgnc:THRAP3 semapv:UnspecifiedMatching +OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:22964 semapv:UnspecifiedMatching +OMIM:603809 THRAP3 skos:exactMatch hgnc.symbol:THRAP3 semapv:UnspecifiedMatching OMIM:603809 THRAP3 skos:exactMatch ncbigene:9967 semapv:UnspecifiedMatching -OMIM:603810 MED17 skos:exactMatch hgnc:MED17 semapv:UnspecifiedMatching +OMIM:603810 MED17 skos:exactMatch hgnc.symbol:2375 semapv:UnspecifiedMatching +OMIM:603810 MED17 skos:exactMatch hgnc.symbol:MED17 semapv:UnspecifiedMatching OMIM:603810 MED17 skos:exactMatch ncbigene:9440 semapv:UnspecifiedMatching -OMIM:603811 BANF1 skos:exactMatch hgnc:BANF1 semapv:UnspecifiedMatching +OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:17397 semapv:UnspecifiedMatching +OMIM:603811 BANF1 skos:exactMatch hgnc.symbol:BANF1 semapv:UnspecifiedMatching OMIM:603811 BANF1 skos:exactMatch ncbigene:8815 semapv:UnspecifiedMatching -OMIM:603812 DCAF5 skos:exactMatch hgnc:DCAF5 semapv:UnspecifiedMatching +OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:20224 semapv:UnspecifiedMatching +OMIM:603812 DCAF5 skos:exactMatch hgnc.symbol:DCAF5 semapv:UnspecifiedMatching OMIM:603812 DCAF5 skos:exactMatch ncbigene:8816 semapv:UnspecifiedMatching -OMIM:603814 RBX1 skos:exactMatch hgnc:RBX1 semapv:UnspecifiedMatching +OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:9928 semapv:UnspecifiedMatching +OMIM:603814 RBX1 skos:exactMatch hgnc.symbol:RBX1 semapv:UnspecifiedMatching OMIM:603814 RBX1 skos:exactMatch ncbigene:9978 semapv:UnspecifiedMatching -OMIM:603815 KIF25 skos:exactMatch hgnc:KIF25 semapv:UnspecifiedMatching +OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:6390 semapv:UnspecifiedMatching +OMIM:603815 KIF25 skos:exactMatch hgnc.symbol:KIF25 semapv:UnspecifiedMatching OMIM:603815 KIF25 skos:exactMatch ncbigene:3834 semapv:UnspecifiedMatching -OMIM:603816 AXIN1 skos:exactMatch hgnc:AXIN1 semapv:UnspecifiedMatching +OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:903 semapv:UnspecifiedMatching +OMIM:603816 AXIN1 skos:exactMatch hgnc.symbol:AXIN1 semapv:UnspecifiedMatching OMIM:603816 AXIN1 skos:exactMatch ncbigene:8312 semapv:UnspecifiedMatching -OMIM:603817 DDEF2 skos:exactMatch hgnc:ASAP2 semapv:UnspecifiedMatching +OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:2721 semapv:UnspecifiedMatching +OMIM:603817 DDEF2 skos:exactMatch hgnc.symbol:ASAP2 semapv:UnspecifiedMatching OMIM:603817 DDEF2 skos:exactMatch ncbigene:8853 semapv:UnspecifiedMatching -OMIM:603818 NRG2 skos:exactMatch hgnc:NRG2 semapv:UnspecifiedMatching +OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:7998 semapv:UnspecifiedMatching +OMIM:603818 NRG2 skos:exactMatch hgnc.symbol:NRG2 semapv:UnspecifiedMatching OMIM:603818 NRG2 skos:exactMatch ncbigene:9542 semapv:UnspecifiedMatching -OMIM:603819 SRA1 skos:exactMatch hgnc:SRA1 semapv:UnspecifiedMatching +OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:11281 semapv:UnspecifiedMatching +OMIM:603819 SRA1 skos:exactMatch hgnc.symbol:SRA1 semapv:UnspecifiedMatching OMIM:603819 SRA1 skos:exactMatch ncbigene:10011 semapv:UnspecifiedMatching -OMIM:603820 FFAR1 skos:exactMatch hgnc:FFAR1 semapv:UnspecifiedMatching +OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:4498 semapv:UnspecifiedMatching +OMIM:603820 FFAR1 skos:exactMatch hgnc.symbol:FFAR1 semapv:UnspecifiedMatching OMIM:603820 FFAR1 skos:exactMatch ncbigene:2864 semapv:UnspecifiedMatching OMIM:603821 FFAR3 skos:exactMatch UMLS:C1825294 semapv:UnspecifiedMatching -OMIM:603821 FFAR3 skos:exactMatch hgnc:FFAR3 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:4499 semapv:UnspecifiedMatching +OMIM:603821 FFAR3 skos:exactMatch hgnc.symbol:FFAR3 semapv:UnspecifiedMatching OMIM:603821 FFAR3 skos:exactMatch ncbigene:2865 semapv:UnspecifiedMatching -OMIM:603822 GPR42 skos:exactMatch hgnc:GPR42 semapv:UnspecifiedMatching +OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:4500 semapv:UnspecifiedMatching +OMIM:603822 GPR42 skos:exactMatch hgnc.symbol:GPR42 semapv:UnspecifiedMatching OMIM:603822 GPR42 skos:exactMatch ncbigene:2866 semapv:UnspecifiedMatching OMIM:603823 FFAR2 skos:exactMatch UMLS:C1825293 semapv:UnspecifiedMatching -OMIM:603823 FFAR2 skos:exactMatch hgnc:FFAR2 semapv:UnspecifiedMatching +OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:4501 semapv:UnspecifiedMatching +OMIM:603823 FFAR2 skos:exactMatch hgnc.symbol:FFAR2 semapv:UnspecifiedMatching OMIM:603823 FFAR2 skos:exactMatch ncbigene:2867 semapv:UnspecifiedMatching -OMIM:603824 GNE skos:exactMatch hgnc:GNE semapv:UnspecifiedMatching +OMIM:603824 GNE skos:exactMatch hgnc.symbol:23657 semapv:UnspecifiedMatching +OMIM:603824 GNE skos:exactMatch hgnc.symbol:GNE semapv:UnspecifiedMatching OMIM:603824 GNE skos:exactMatch ncbigene:10020 semapv:UnspecifiedMatching -OMIM:603825 HIC1 skos:exactMatch hgnc:HIC1 semapv:UnspecifiedMatching +OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:4909 semapv:UnspecifiedMatching +OMIM:603825 HIC1 skos:exactMatch hgnc.symbol:HIC1 semapv:UnspecifiedMatching OMIM:603825 HIC1 skos:exactMatch ncbigene:3090 semapv:UnspecifiedMatching -OMIM:603826 NR1H4 skos:exactMatch hgnc:NR1H4 semapv:UnspecifiedMatching +OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:7967 semapv:UnspecifiedMatching +OMIM:603826 NR1H4 skos:exactMatch hgnc.symbol:NR1H4 semapv:UnspecifiedMatching OMIM:603826 NR1H4 skos:exactMatch ncbigene:9971 semapv:UnspecifiedMatching -OMIM:603827 BCL2L11 skos:exactMatch hgnc:BCL2L11 semapv:UnspecifiedMatching +OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:994 semapv:UnspecifiedMatching +OMIM:603827 BCL2L11 skos:exactMatch hgnc.symbol:BCL2L11 semapv:UnspecifiedMatching OMIM:603827 BCL2L11 skos:exactMatch ncbigene:10018 semapv:UnspecifiedMatching -OMIM:603831 PDZK1 skos:exactMatch hgnc:PDZK1 semapv:UnspecifiedMatching +OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:8821 semapv:UnspecifiedMatching +OMIM:603831 PDZK1 skos:exactMatch hgnc.symbol:PDZK1 semapv:UnspecifiedMatching OMIM:603831 PDZK1 skos:exactMatch ncbigene:5174 semapv:UnspecifiedMatching -OMIM:603832 NDUFA3 skos:exactMatch hgnc:NDUFA3 semapv:UnspecifiedMatching +OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:7686 semapv:UnspecifiedMatching +OMIM:603832 NDUFA3 skos:exactMatch hgnc.symbol:NDUFA3 semapv:UnspecifiedMatching OMIM:603832 NDUFA3 skos:exactMatch ncbigene:4696 semapv:UnspecifiedMatching OMIM:603833 COXFA4 skos:exactMatch UMLS:C1417624 semapv:UnspecifiedMatching OMIM:603833 COXFA4 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching -OMIM:603833 COXFA4 skos:exactMatch hgnc:NDUFA4 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:7687 semapv:UnspecifiedMatching +OMIM:603833 COXFA4 skos:exactMatch hgnc.symbol:NDUFA4 semapv:UnspecifiedMatching OMIM:603833 COXFA4 skos:exactMatch ncbigene:4697 semapv:UnspecifiedMatching -OMIM:603834 NDUFA9 skos:exactMatch hgnc:NDUFA9 semapv:UnspecifiedMatching +OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:7693 semapv:UnspecifiedMatching +OMIM:603834 NDUFA9 skos:exactMatch hgnc.symbol:NDUFA9 semapv:UnspecifiedMatching OMIM:603834 NDUFA9 skos:exactMatch ncbigene:4704 semapv:UnspecifiedMatching -OMIM:603835 NDUFA10 skos:exactMatch hgnc:NDUFA10 semapv:UnspecifiedMatching +OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:7684 semapv:UnspecifiedMatching +OMIM:603835 NDUFA10 skos:exactMatch hgnc.symbol:NDUFA10 semapv:UnspecifiedMatching OMIM:603835 NDUFA10 skos:exactMatch ncbigene:4705 semapv:UnspecifiedMatching -OMIM:603836 NDUFAB1 skos:exactMatch hgnc:NDUFAB1 semapv:UnspecifiedMatching +OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:7694 semapv:UnspecifiedMatching +OMIM:603836 NDUFAB1 skos:exactMatch hgnc.symbol:NDUFAB1 semapv:UnspecifiedMatching OMIM:603836 NDUFAB1 skos:exactMatch ncbigene:4706 semapv:UnspecifiedMatching -OMIM:603837 NDUFB1 skos:exactMatch hgnc:NDUFB1 semapv:UnspecifiedMatching +OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:7695 semapv:UnspecifiedMatching +OMIM:603837 NDUFB1 skos:exactMatch hgnc.symbol:NDUFB1 semapv:UnspecifiedMatching OMIM:603837 NDUFB1 skos:exactMatch ncbigene:4707 semapv:UnspecifiedMatching -OMIM:603838 NDUFB2 skos:exactMatch hgnc:NDUFB2 semapv:UnspecifiedMatching +OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:7697 semapv:UnspecifiedMatching +OMIM:603838 NDUFB2 skos:exactMatch hgnc.symbol:NDUFB2 semapv:UnspecifiedMatching OMIM:603838 NDUFB2 skos:exactMatch ncbigene:4708 semapv:UnspecifiedMatching -OMIM:603839 NDUFB3 skos:exactMatch hgnc:NDUFB3 semapv:UnspecifiedMatching +OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:7698 semapv:UnspecifiedMatching +OMIM:603839 NDUFB3 skos:exactMatch hgnc.symbol:NDUFB3 semapv:UnspecifiedMatching OMIM:603839 NDUFB3 skos:exactMatch ncbigene:4709 semapv:UnspecifiedMatching -OMIM:603840 NDUFB4 skos:exactMatch hgnc:NDUFB4 semapv:UnspecifiedMatching +OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:7699 semapv:UnspecifiedMatching +OMIM:603840 NDUFB4 skos:exactMatch hgnc.symbol:NDUFB4 semapv:UnspecifiedMatching OMIM:603840 NDUFB4 skos:exactMatch ncbigene:4710 semapv:UnspecifiedMatching -OMIM:603841 NDUFB5 skos:exactMatch hgnc:NDUFB5 semapv:UnspecifiedMatching +OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:7700 semapv:UnspecifiedMatching +OMIM:603841 NDUFB5 skos:exactMatch hgnc.symbol:NDUFB5 semapv:UnspecifiedMatching OMIM:603841 NDUFB5 skos:exactMatch ncbigene:4711 semapv:UnspecifiedMatching -OMIM:603842 NDUFB7 skos:exactMatch hgnc:NDUFB7 semapv:UnspecifiedMatching +OMIM:603842 NDUFB7 skos:exactMatch hgnc.symbol:7702 semapv:UnspecifiedMatching +OMIM:603842 NDUFB7 skos:exactMatch hgnc.symbol:NDUFB7 semapv:UnspecifiedMatching OMIM:603842 NDUFB7 skos:exactMatch ncbigene:4713 semapv:UnspecifiedMatching OMIM:603843 NDUFB10 skos:exactMatch UMLS:C1417633 semapv:UnspecifiedMatching OMIM:603843 NDUFB10 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching -OMIM:603843 NDUFB10 skos:exactMatch hgnc:NDUFB10 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch hgnc.symbol:7696 semapv:UnspecifiedMatching +OMIM:603843 NDUFB10 skos:exactMatch hgnc.symbol:NDUFB10 semapv:UnspecifiedMatching OMIM:603843 NDUFB10 skos:exactMatch ncbigene:4716 semapv:UnspecifiedMatching -OMIM:603844 NDUFC1 skos:exactMatch hgnc:NDUFC1 semapv:UnspecifiedMatching +OMIM:603844 NDUFC1 skos:exactMatch hgnc.symbol:7705 semapv:UnspecifiedMatching +OMIM:603844 NDUFC1 skos:exactMatch hgnc.symbol:NDUFC1 semapv:UnspecifiedMatching OMIM:603844 NDUFC1 skos:exactMatch ncbigene:4717 semapv:UnspecifiedMatching -OMIM:603845 NDUFC2 skos:exactMatch hgnc:NDUFC2 semapv:UnspecifiedMatching +OMIM:603845 NDUFC2 skos:exactMatch hgnc.symbol:7706 semapv:UnspecifiedMatching +OMIM:603845 NDUFC2 skos:exactMatch hgnc.symbol:NDUFC2 semapv:UnspecifiedMatching OMIM:603845 NDUFC2 skos:exactMatch ncbigene:4718 semapv:UnspecifiedMatching -OMIM:603846 NDUFS3 skos:exactMatch hgnc:NDUFS3 semapv:UnspecifiedMatching +OMIM:603846 NDUFS3 skos:exactMatch hgnc.symbol:7710 semapv:UnspecifiedMatching +OMIM:603846 NDUFS3 skos:exactMatch hgnc.symbol:NDUFS3 semapv:UnspecifiedMatching OMIM:603846 NDUFS3 skos:exactMatch ncbigene:4722 semapv:UnspecifiedMatching -OMIM:603847 NDUFS5 skos:exactMatch hgnc:NDUFS5 semapv:UnspecifiedMatching +OMIM:603847 NDUFS5 skos:exactMatch hgnc.symbol:7712 semapv:UnspecifiedMatching +OMIM:603847 NDUFS5 skos:exactMatch hgnc.symbol:NDUFS5 semapv:UnspecifiedMatching OMIM:603847 NDUFS5 skos:exactMatch ncbigene:4725 semapv:UnspecifiedMatching -OMIM:603848 NDUFS6 skos:exactMatch hgnc:NDUFS6 semapv:UnspecifiedMatching +OMIM:603848 NDUFS6 skos:exactMatch hgnc.symbol:7713 semapv:UnspecifiedMatching +OMIM:603848 NDUFS6 skos:exactMatch hgnc.symbol:NDUFS6 semapv:UnspecifiedMatching OMIM:603848 NDUFS6 skos:exactMatch ncbigene:4726 semapv:UnspecifiedMatching -OMIM:603849 NR2E1 skos:exactMatch hgnc:NR2E1 semapv:UnspecifiedMatching +OMIM:603849 NR2E1 skos:exactMatch hgnc.symbol:7973 semapv:UnspecifiedMatching +OMIM:603849 NR2E1 skos:exactMatch hgnc.symbol:NR2E1 semapv:UnspecifiedMatching OMIM:603849 NR2E1 skos:exactMatch ncbigene:7101 semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch UMLS:C1414119 semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch UMLS:C1853139 semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch UMLS:C4310912 semapv:UnspecifiedMatching -OMIM:603850 DNM1L skos:exactMatch hgnc:DNM1L semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch hgnc.symbol:2973 semapv:UnspecifiedMatching +OMIM:603850 DNM1L skos:exactMatch hgnc.symbol:DNM1L semapv:UnspecifiedMatching OMIM:603850 DNM1L skos:exactMatch ncbigene:10059 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C1275808 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C1418697 semapv:UnspecifiedMatching @@ -16599,216 +22707,315 @@ OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859049 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C1859050 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751682 semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch UMLS:C2751683 semapv:UnspecifiedMatching -OMIM:603851 PHOX2B skos:exactMatch hgnc:PHOX2B semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:9143 semapv:UnspecifiedMatching +OMIM:603851 PHOX2B skos:exactMatch hgnc.symbol:PHOX2B semapv:UnspecifiedMatching OMIM:603851 PHOX2B skos:exactMatch ncbigene:8929 semapv:UnspecifiedMatching -OMIM:603852 TSSC4 skos:exactMatch hgnc:TSSC4 semapv:UnspecifiedMatching +OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:12386 semapv:UnspecifiedMatching +OMIM:603852 TSSC4 skos:exactMatch hgnc.symbol:TSSC4 semapv:UnspecifiedMatching OMIM:603852 TSSC4 skos:exactMatch ncbigene:10078 semapv:UnspecifiedMatching -OMIM:603853 TSPAN32 skos:exactMatch hgnc:TSPAN32 semapv:UnspecifiedMatching +OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:13410 semapv:UnspecifiedMatching +OMIM:603853 TSPAN32 skos:exactMatch hgnc.symbol:TSPAN32 semapv:UnspecifiedMatching OMIM:603853 TSPAN32 skos:exactMatch ncbigene:10077 semapv:UnspecifiedMatching -OMIM:603854 RANBP9 skos:exactMatch hgnc:RANBP9 semapv:UnspecifiedMatching +OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:13727 semapv:UnspecifiedMatching +OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:RANBP9 semapv:UnspecifiedMatching OMIM:603854 RANBP9 skos:exactMatch ncbigene:10048 semapv:UnspecifiedMatching -OMIM:603856 MKRN3 skos:exactMatch hgnc:MKRN3 semapv:UnspecifiedMatching +OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:7114 semapv:UnspecifiedMatching +OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:MKRN3 semapv:UnspecifiedMatching OMIM:603856 MKRN3 skos:exactMatch ncbigene:7681 semapv:UnspecifiedMatching OMIM:603857 MKRN3AS skos:exactMatch ncbigene:10108 semapv:UnspecifiedMatching -OMIM:603859 SLC25A13 skos:exactMatch hgnc:SLC25A13 semapv:UnspecifiedMatching +OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:10983 semapv:UnspecifiedMatching +OMIM:603859 SLC25A13 skos:exactMatch hgnc.symbol:SLC25A13 semapv:UnspecifiedMatching OMIM:603859 SLC25A13 skos:exactMatch ncbigene:10165 semapv:UnspecifiedMatching -OMIM:603861 SLC25A15 skos:exactMatch hgnc:SLC25A15 semapv:UnspecifiedMatching +OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:10985 semapv:UnspecifiedMatching +OMIM:603861 SLC25A15 skos:exactMatch hgnc.symbol:SLC25A15 semapv:UnspecifiedMatching OMIM:603861 SLC25A15 skos:exactMatch ncbigene:10166 semapv:UnspecifiedMatching -OMIM:603862 CCNT2 skos:exactMatch hgnc:CCNT2 semapv:UnspecifiedMatching +OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:1600 semapv:UnspecifiedMatching +OMIM:603862 CCNT2 skos:exactMatch hgnc.symbol:CCNT2 semapv:UnspecifiedMatching OMIM:603862 CCNT2 skos:exactMatch ncbigene:905 semapv:UnspecifiedMatching -OMIM:603863 RNF7 skos:exactMatch hgnc:RNF7 semapv:UnspecifiedMatching +OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:10070 semapv:UnspecifiedMatching +OMIM:603863 RNF7 skos:exactMatch hgnc.symbol:RNF7 semapv:UnspecifiedMatching OMIM:603863 RNF7 skos:exactMatch ncbigene:9616 semapv:UnspecifiedMatching -OMIM:603864 CCS skos:exactMatch hgnc:CCS semapv:UnspecifiedMatching +OMIM:603864 CCS skos:exactMatch hgnc.symbol:1613 semapv:UnspecifiedMatching +OMIM:603864 CCS skos:exactMatch hgnc.symbol:CCS semapv:UnspecifiedMatching OMIM:603864 CCS skos:exactMatch ncbigene:9973 semapv:UnspecifiedMatching -OMIM:603865 GFPT2 skos:exactMatch hgnc:GFPT2 semapv:UnspecifiedMatching +OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:4242 semapv:UnspecifiedMatching +OMIM:603865 GFPT2 skos:exactMatch hgnc.symbol:GFPT2 semapv:UnspecifiedMatching OMIM:603865 GFPT2 skos:exactMatch ncbigene:9945 semapv:UnspecifiedMatching -OMIM:603866 PEX11A skos:exactMatch hgnc:PEX11A semapv:UnspecifiedMatching +OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:8852 semapv:UnspecifiedMatching +OMIM:603866 PEX11A skos:exactMatch hgnc.symbol:PEX11A semapv:UnspecifiedMatching OMIM:603866 PEX11A skos:exactMatch ncbigene:8800 semapv:UnspecifiedMatching OMIM:603867 PEX11B skos:exactMatch UMLS:C1418472 semapv:UnspecifiedMatching OMIM:603867 PEX11B skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching -OMIM:603867 PEX11B skos:exactMatch hgnc:PEX11B semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:8853 semapv:UnspecifiedMatching +OMIM:603867 PEX11B skos:exactMatch hgnc.symbol:PEX11B semapv:UnspecifiedMatching OMIM:603867 PEX11B skos:exactMatch ncbigene:8799 semapv:UnspecifiedMatching -OMIM:603868 RAB27A skos:exactMatch hgnc:RAB27A semapv:UnspecifiedMatching +OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:9766 semapv:UnspecifiedMatching +OMIM:603868 RAB27A skos:exactMatch hgnc.symbol:RAB27A semapv:UnspecifiedMatching OMIM:603868 RAB27A skos:exactMatch ncbigene:5873 semapv:UnspecifiedMatching -OMIM:603869 RAB27B skos:exactMatch hgnc:RAB27B semapv:UnspecifiedMatching +OMIM:603869 RAB27B skos:exactMatch hgnc.symbol:9767 semapv:UnspecifiedMatching +OMIM:603869 RAB27B skos:exactMatch hgnc.symbol:RAB27B semapv:UnspecifiedMatching OMIM:603869 RAB27B skos:exactMatch ncbigene:5874 semapv:UnspecifiedMatching -OMIM:603870 CBFA2T3 skos:exactMatch hgnc:CBFA2T3 semapv:UnspecifiedMatching +OMIM:603870 CBFA2T3 skos:exactMatch hgnc.symbol:1537 semapv:UnspecifiedMatching +OMIM:603870 CBFA2T3 skos:exactMatch hgnc.symbol:CBFA2T3 semapv:UnspecifiedMatching OMIM:603870 CBFA2T3 skos:exactMatch ncbigene:863 semapv:UnspecifiedMatching -OMIM:603871 BYSL skos:exactMatch hgnc:BYSL semapv:UnspecifiedMatching +OMIM:603871 BYSL skos:exactMatch hgnc.symbol:1157 semapv:UnspecifiedMatching +OMIM:603871 BYSL skos:exactMatch hgnc.symbol:BYSL semapv:UnspecifiedMatching OMIM:603871 BYSL skos:exactMatch ncbigene:705 semapv:UnspecifiedMatching -OMIM:603872 TROAP skos:exactMatch hgnc:TROAP semapv:UnspecifiedMatching +OMIM:603872 TROAP skos:exactMatch hgnc.symbol:12327 semapv:UnspecifiedMatching +OMIM:603872 TROAP skos:exactMatch hgnc.symbol:TROAP semapv:UnspecifiedMatching OMIM:603872 TROAP skos:exactMatch ncbigene:10024 semapv:UnspecifiedMatching OMIM:603873 PLAA skos:exactMatch UMLS:C1418627 semapv:UnspecifiedMatching OMIM:603873 PLAA skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching -OMIM:603873 PLAA skos:exactMatch hgnc:PLAA semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch hgnc.symbol:9043 semapv:UnspecifiedMatching +OMIM:603873 PLAA skos:exactMatch hgnc.symbol:PLAA semapv:UnspecifiedMatching OMIM:603873 PLAA skos:exactMatch ncbigene:9373 semapv:UnspecifiedMatching -OMIM:603874 ANGPTL1 skos:exactMatch hgnc:ANGPTL1 semapv:UnspecifiedMatching +OMIM:603874 ANGPTL1 skos:exactMatch hgnc.symbol:489 semapv:UnspecifiedMatching +OMIM:603874 ANGPTL1 skos:exactMatch hgnc.symbol:ANGPTL1 semapv:UnspecifiedMatching OMIM:603874 ANGPTL1 skos:exactMatch ncbigene:9068 semapv:UnspecifiedMatching -OMIM:603875 TNFSF8 skos:exactMatch hgnc:TNFSF8 semapv:UnspecifiedMatching +OMIM:603875 TNFSF8 skos:exactMatch hgnc.symbol:11938 semapv:UnspecifiedMatching +OMIM:603875 TNFSF8 skos:exactMatch hgnc.symbol:TNFSF8 semapv:UnspecifiedMatching OMIM:603875 TNFSF8 skos:exactMatch ncbigene:944 semapv:UnspecifiedMatching -OMIM:603876 ADAMTS4 skos:exactMatch hgnc:ADAMTS4 semapv:UnspecifiedMatching +OMIM:603876 ADAMTS4 skos:exactMatch hgnc.symbol:220 semapv:UnspecifiedMatching +OMIM:603876 ADAMTS4 skos:exactMatch hgnc.symbol:ADAMTS4 semapv:UnspecifiedMatching OMIM:603876 ADAMTS4 skos:exactMatch ncbigene:9507 semapv:UnspecifiedMatching -OMIM:603877 SLC16A3 skos:exactMatch hgnc:SLC16A3 semapv:UnspecifiedMatching +OMIM:603877 SLC16A3 skos:exactMatch hgnc.symbol:10924 semapv:UnspecifiedMatching +OMIM:603877 SLC16A3 skos:exactMatch hgnc.symbol:SLC16A3 semapv:UnspecifiedMatching OMIM:603877 SLC16A3 skos:exactMatch ncbigene:9123 semapv:UnspecifiedMatching -OMIM:603878 SLC16A4 skos:exactMatch hgnc:SLC16A4 semapv:UnspecifiedMatching +OMIM:603878 SLC16A4 skos:exactMatch hgnc.symbol:10925 semapv:UnspecifiedMatching +OMIM:603878 SLC16A4 skos:exactMatch hgnc.symbol:SLC16A4 semapv:UnspecifiedMatching OMIM:603878 SLC16A4 skos:exactMatch ncbigene:9122 semapv:UnspecifiedMatching -OMIM:603879 SLC16A5 skos:exactMatch hgnc:SLC16A5 semapv:UnspecifiedMatching +OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:10926 semapv:UnspecifiedMatching +OMIM:603879 SLC16A5 skos:exactMatch hgnc.symbol:SLC16A5 semapv:UnspecifiedMatching OMIM:603879 SLC16A5 skos:exactMatch ncbigene:9121 semapv:UnspecifiedMatching -OMIM:603880 SLC16A6 skos:exactMatch hgnc:SLC16A6 semapv:UnspecifiedMatching +OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:10927 semapv:UnspecifiedMatching +OMIM:603880 SLC16A6 skos:exactMatch hgnc.symbol:SLC16A6 semapv:UnspecifiedMatching OMIM:603880 SLC16A6 skos:exactMatch ncbigene:9120 semapv:UnspecifiedMatching -OMIM:603881 NR1I3 skos:exactMatch hgnc:NR1I3 semapv:UnspecifiedMatching +OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:7969 semapv:UnspecifiedMatching +OMIM:603881 NR1I3 skos:exactMatch hgnc.symbol:NR1I3 semapv:UnspecifiedMatching OMIM:603881 NR1I3 skos:exactMatch ncbigene:9970 semapv:UnspecifiedMatching -OMIM:603882 BAG2 skos:exactMatch hgnc:BAG2 semapv:UnspecifiedMatching +OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:938 semapv:UnspecifiedMatching +OMIM:603882 BAG2 skos:exactMatch hgnc.symbol:BAG2 semapv:UnspecifiedMatching OMIM:603882 BAG2 skos:exactMatch ncbigene:9532 semapv:UnspecifiedMatching -OMIM:603883 BAG3 skos:exactMatch hgnc:BAG3 semapv:UnspecifiedMatching +OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:939 semapv:UnspecifiedMatching +OMIM:603883 BAG3 skos:exactMatch hgnc.symbol:BAG3 semapv:UnspecifiedMatching OMIM:603883 BAG3 skos:exactMatch ncbigene:9531 semapv:UnspecifiedMatching -OMIM:603884 BAG4 skos:exactMatch hgnc:BAG4 semapv:UnspecifiedMatching +OMIM:603884 BAG4 skos:exactMatch hgnc.symbol:940 semapv:UnspecifiedMatching +OMIM:603884 BAG4 skos:exactMatch hgnc.symbol:BAG4 semapv:UnspecifiedMatching OMIM:603884 BAG4 skos:exactMatch ncbigene:9530 semapv:UnspecifiedMatching -OMIM:603885 BAG5 skos:exactMatch hgnc:BAG5 semapv:UnspecifiedMatching +OMIM:603885 BAG5 skos:exactMatch hgnc.symbol:941 semapv:UnspecifiedMatching +OMIM:603885 BAG5 skos:exactMatch hgnc.symbol:BAG5 semapv:UnspecifiedMatching OMIM:603885 BAG5 skos:exactMatch ncbigene:9529 semapv:UnspecifiedMatching -OMIM:603886 ARTN skos:exactMatch hgnc:ARTN semapv:UnspecifiedMatching +OMIM:603886 ARTN skos:exactMatch hgnc.symbol:727 semapv:UnspecifiedMatching +OMIM:603886 ARTN skos:exactMatch hgnc.symbol:ARTN semapv:UnspecifiedMatching OMIM:603886 ARTN skos:exactMatch ncbigene:9048 semapv:UnspecifiedMatching -OMIM:603887 TIMELESS skos:exactMatch hgnc:TIMELESS semapv:UnspecifiedMatching +OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:11813 semapv:UnspecifiedMatching +OMIM:603887 TIMELESS skos:exactMatch hgnc.symbol:TIMELESS semapv:UnspecifiedMatching OMIM:603887 TIMELESS skos:exactMatch ncbigene:8914 semapv:UnspecifiedMatching -OMIM:603888 KCNS3 skos:exactMatch hgnc:KCNS3 semapv:UnspecifiedMatching +OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:6302 semapv:UnspecifiedMatching +OMIM:603888 KCNS3 skos:exactMatch hgnc.symbol:KCNS3 semapv:UnspecifiedMatching OMIM:603888 KCNS3 skos:exactMatch ncbigene:3790 semapv:UnspecifiedMatching -OMIM:603889 SIRPB1 skos:exactMatch hgnc:SIRPB1 semapv:UnspecifiedMatching +OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:15928 semapv:UnspecifiedMatching +OMIM:603889 SIRPB1 skos:exactMatch hgnc.symbol:SIRPB1 semapv:UnspecifiedMatching OMIM:603889 SIRPB1 skos:exactMatch ncbigene:10326 semapv:UnspecifiedMatching -OMIM:603890 UBE2L6 skos:exactMatch hgnc:UBE2L6 semapv:UnspecifiedMatching +OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:12490 semapv:UnspecifiedMatching +OMIM:603890 UBE2L6 skos:exactMatch hgnc.symbol:UBE2L6 semapv:UnspecifiedMatching OMIM:603890 UBE2L6 skos:exactMatch ncbigene:9246 semapv:UnspecifiedMatching -OMIM:603891 FGF19 skos:exactMatch hgnc:FGF19 semapv:UnspecifiedMatching +OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:3675 semapv:UnspecifiedMatching +OMIM:603891 FGF19 skos:exactMatch hgnc.symbol:FGF19 semapv:UnspecifiedMatching OMIM:603891 FGF19 skos:exactMatch ncbigene:9965 semapv:UnspecifiedMatching -OMIM:603892 EFTUD2 skos:exactMatch hgnc:EFTUD2 semapv:UnspecifiedMatching +OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:30858 semapv:UnspecifiedMatching +OMIM:603892 EFTUD2 skos:exactMatch hgnc.symbol:EFTUD2 semapv:UnspecifiedMatching OMIM:603892 EFTUD2 skos:exactMatch ncbigene:9343 semapv:UnspecifiedMatching -OMIM:603893 TANK skos:exactMatch hgnc:TANK semapv:UnspecifiedMatching +OMIM:603893 TANK skos:exactMatch hgnc.symbol:11562 semapv:UnspecifiedMatching +OMIM:603893 TANK skos:exactMatch hgnc.symbol:TANK semapv:UnspecifiedMatching OMIM:603893 TANK skos:exactMatch ncbigene:10010 semapv:UnspecifiedMatching -OMIM:603894 RGS6 skos:exactMatch hgnc:RGS6 semapv:UnspecifiedMatching +OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:10002 semapv:UnspecifiedMatching +OMIM:603894 RGS6 skos:exactMatch hgnc.symbol:RGS6 semapv:UnspecifiedMatching OMIM:603894 RGS6 skos:exactMatch ncbigene:9628 semapv:UnspecifiedMatching -OMIM:603895 RGS11 skos:exactMatch hgnc:RGS11 semapv:UnspecifiedMatching +OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:9993 semapv:UnspecifiedMatching +OMIM:603895 RGS11 skos:exactMatch hgnc.symbol:RGS11 semapv:UnspecifiedMatching OMIM:603895 RGS11 skos:exactMatch ncbigene:8786 semapv:UnspecifiedMatching -OMIM:603897 MATN4 skos:exactMatch hgnc:MATN4 semapv:UnspecifiedMatching +OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:6910 semapv:UnspecifiedMatching +OMIM:603897 MATN4 skos:exactMatch hgnc.symbol:MATN4 semapv:UnspecifiedMatching OMIM:603897 MATN4 skos:exactMatch ncbigene:8785 semapv:UnspecifiedMatching -OMIM:603898 TNFSF18 skos:exactMatch hgnc:TNFSF18 semapv:UnspecifiedMatching +OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:11932 semapv:UnspecifiedMatching +OMIM:603898 TNFSF18 skos:exactMatch hgnc.symbol:TNFSF18 semapv:UnspecifiedMatching OMIM:603898 TNFSF18 skos:exactMatch ncbigene:8995 semapv:UnspecifiedMatching -OMIM:603899 ZNF85 skos:exactMatch hgnc:ZNF85 semapv:UnspecifiedMatching +OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:13160 semapv:UnspecifiedMatching +OMIM:603899 ZNF85 skos:exactMatch hgnc.symbol:ZNF85 semapv:UnspecifiedMatching OMIM:603899 ZNF85 skos:exactMatch ncbigene:7639 semapv:UnspecifiedMatching -OMIM:603900 ZNF174 skos:exactMatch hgnc:ZNF174 semapv:UnspecifiedMatching +OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:12963 semapv:UnspecifiedMatching +OMIM:603900 ZNF174 skos:exactMatch hgnc.symbol:ZNF174 semapv:UnspecifiedMatching OMIM:603900 ZNF174 skos:exactMatch ncbigene:7727 semapv:UnspecifiedMatching -OMIM:603901 ZPR1 skos:exactMatch hgnc:ZPR1 semapv:UnspecifiedMatching +OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:13051 semapv:UnspecifiedMatching +OMIM:603901 ZPR1 skos:exactMatch hgnc.symbol:ZPR1 semapv:UnspecifiedMatching OMIM:603901 ZPR1 skos:exactMatch ncbigene:8882 semapv:UnspecifiedMatching -OMIM:603904 ITM2B skos:exactMatch hgnc:ITM2B semapv:UnspecifiedMatching +OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:6174 semapv:UnspecifiedMatching +OMIM:603904 ITM2B skos:exactMatch hgnc.symbol:ITM2B semapv:UnspecifiedMatching OMIM:603904 ITM2B skos:exactMatch ncbigene:9445 semapv:UnspecifiedMatching -OMIM:603905 TNFRSF18 skos:exactMatch hgnc:TNFRSF18 semapv:UnspecifiedMatching +OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:11914 semapv:UnspecifiedMatching +OMIM:603905 TNFRSF18 skos:exactMatch hgnc.symbol:TNFRSF18 semapv:UnspecifiedMatching OMIM:603905 TNFRSF18 skos:exactMatch ncbigene:8784 semapv:UnspecifiedMatching -OMIM:603906 CLCA1 skos:exactMatch hgnc:CLCA1 semapv:UnspecifiedMatching +OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:2015 semapv:UnspecifiedMatching +OMIM:603906 CLCA1 skos:exactMatch hgnc.symbol:CLCA1 semapv:UnspecifiedMatching OMIM:603906 CLCA1 skos:exactMatch ncbigene:1179 semapv:UnspecifiedMatching OMIM:603907 EIF2S1 skos:exactMatch UMLS:C1414334 semapv:UnspecifiedMatching -OMIM:603907 EIF2S1 skos:exactMatch hgnc:EIF2S1 semapv:UnspecifiedMatching +OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:3265 semapv:UnspecifiedMatching +OMIM:603907 EIF2S1 skos:exactMatch hgnc.symbol:EIF2S1 semapv:UnspecifiedMatching OMIM:603907 EIF2S1 skos:exactMatch ncbigene:1965 semapv:UnspecifiedMatching -OMIM:603908 EIF2S2 skos:exactMatch hgnc:EIF2S2 semapv:UnspecifiedMatching +OMIM:603908 EIF2S2 skos:exactMatch hgnc.symbol:3266 semapv:UnspecifiedMatching +OMIM:603908 EIF2S2 skos:exactMatch hgnc.symbol:EIF2S2 semapv:UnspecifiedMatching OMIM:603908 EIF2S2 skos:exactMatch ncbigene:8894 semapv:UnspecifiedMatching -OMIM:603910 EIF3J skos:exactMatch hgnc:EIF3J semapv:UnspecifiedMatching +OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:3270 semapv:UnspecifiedMatching +OMIM:603910 EIF3J skos:exactMatch hgnc.symbol:EIF3J semapv:UnspecifiedMatching OMIM:603910 EIF3J skos:exactMatch ncbigene:8669 semapv:UnspecifiedMatching -OMIM:603911 EIF3I skos:exactMatch hgnc:EIF3I semapv:UnspecifiedMatching +OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:3272 semapv:UnspecifiedMatching +OMIM:603911 EIF3I skos:exactMatch hgnc.symbol:EIF3I semapv:UnspecifiedMatching OMIM:603911 EIF3I skos:exactMatch ncbigene:8668 semapv:UnspecifiedMatching -OMIM:603912 EIF3H skos:exactMatch hgnc:EIF3H semapv:UnspecifiedMatching +OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:3273 semapv:UnspecifiedMatching +OMIM:603912 EIF3H skos:exactMatch hgnc.symbol:EIF3H semapv:UnspecifiedMatching OMIM:603912 EIF3H skos:exactMatch ncbigene:8667 semapv:UnspecifiedMatching -OMIM:603913 EIF3G skos:exactMatch hgnc:EIF3G semapv:UnspecifiedMatching +OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:3274 semapv:UnspecifiedMatching +OMIM:603913 EIF3G skos:exactMatch hgnc.symbol:EIF3G semapv:UnspecifiedMatching OMIM:603913 EIF3G skos:exactMatch ncbigene:8666 semapv:UnspecifiedMatching -OMIM:603914 EIF3F skos:exactMatch hgnc:EIF3F semapv:UnspecifiedMatching +OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:3275 semapv:UnspecifiedMatching +OMIM:603914 EIF3F skos:exactMatch hgnc.symbol:EIF3F semapv:UnspecifiedMatching OMIM:603914 EIF3F skos:exactMatch ncbigene:8665 semapv:UnspecifiedMatching -OMIM:603915 EIF3D skos:exactMatch hgnc:EIF3D semapv:UnspecifiedMatching +OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:3278 semapv:UnspecifiedMatching +OMIM:603915 EIF3D skos:exactMatch hgnc.symbol:EIF3D semapv:UnspecifiedMatching OMIM:603915 EIF3D skos:exactMatch ncbigene:8664 semapv:UnspecifiedMatching -OMIM:603916 EIF3C skos:exactMatch hgnc:EIF3C semapv:UnspecifiedMatching +OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:3279 semapv:UnspecifiedMatching +OMIM:603916 EIF3C skos:exactMatch hgnc.symbol:EIF3C semapv:UnspecifiedMatching OMIM:603916 EIF3C skos:exactMatch ncbigene:8663 semapv:UnspecifiedMatching -OMIM:603917 EIF3B skos:exactMatch hgnc:EIF3B semapv:UnspecifiedMatching +OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:3280 semapv:UnspecifiedMatching +OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:EIF3B semapv:UnspecifiedMatching OMIM:603917 EIF3B skos:exactMatch ncbigene:8662 semapv:UnspecifiedMatching -OMIM:603919 STK10 skos:exactMatch hgnc:STK10 semapv:UnspecifiedMatching +OMIM:603919 STK10 skos:exactMatch hgnc.symbol:11388 semapv:UnspecifiedMatching +OMIM:603919 STK10 skos:exactMatch hgnc.symbol:STK10 semapv:UnspecifiedMatching OMIM:603919 STK10 skos:exactMatch ncbigene:6793 semapv:UnspecifiedMatching -OMIM:603920 CRYZL1 skos:exactMatch hgnc:CRYZL1 semapv:UnspecifiedMatching +OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:2420 semapv:UnspecifiedMatching +OMIM:603920 CRYZL1 skos:exactMatch hgnc.symbol:CRYZL1 semapv:UnspecifiedMatching OMIM:603920 CRYZL1 skos:exactMatch ncbigene:9946 semapv:UnspecifiedMatching -OMIM:603921 SUCLA2 skos:exactMatch hgnc:SUCLA2 semapv:UnspecifiedMatching +OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:11448 semapv:UnspecifiedMatching +OMIM:603921 SUCLA2 skos:exactMatch hgnc.symbol:SUCLA2 semapv:UnspecifiedMatching OMIM:603921 SUCLA2 skos:exactMatch ncbigene:8803 semapv:UnspecifiedMatching -OMIM:603922 SUCLG2 skos:exactMatch hgnc:SUCLG2 semapv:UnspecifiedMatching +OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:11450 semapv:UnspecifiedMatching +OMIM:603922 SUCLG2 skos:exactMatch hgnc.symbol:SUCLG2 semapv:UnspecifiedMatching OMIM:603922 SUCLG2 skos:exactMatch ncbigene:8801 semapv:UnspecifiedMatching -OMIM:603924 HABP2 skos:exactMatch hgnc:HABP2 semapv:UnspecifiedMatching +OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:4798 semapv:UnspecifiedMatching +OMIM:603924 HABP2 skos:exactMatch hgnc.symbol:HABP2 semapv:UnspecifiedMatching OMIM:603924 HABP2 skos:exactMatch ncbigene:3026 semapv:UnspecifiedMatching -OMIM:603925 SYNGR1 skos:exactMatch hgnc:SYNGR1 semapv:UnspecifiedMatching +OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:11498 semapv:UnspecifiedMatching +OMIM:603925 SYNGR1 skos:exactMatch hgnc.symbol:SYNGR1 semapv:UnspecifiedMatching OMIM:603925 SYNGR1 skos:exactMatch ncbigene:9145 semapv:UnspecifiedMatching -OMIM:603926 SYNGR2 skos:exactMatch hgnc:SYNGR2 semapv:UnspecifiedMatching +OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:11499 semapv:UnspecifiedMatching +OMIM:603926 SYNGR2 skos:exactMatch hgnc.symbol:SYNGR2 semapv:UnspecifiedMatching OMIM:603926 SYNGR2 skos:exactMatch ncbigene:9144 semapv:UnspecifiedMatching -OMIM:603927 SYNGR3 skos:exactMatch hgnc:SYNGR3 semapv:UnspecifiedMatching +OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:11501 semapv:UnspecifiedMatching +OMIM:603927 SYNGR3 skos:exactMatch hgnc.symbol:SYNGR3 semapv:UnspecifiedMatching OMIM:603927 SYNGR3 skos:exactMatch ncbigene:9143 semapv:UnspecifiedMatching -OMIM:603928 EIF4B skos:exactMatch hgnc:EIF4B semapv:UnspecifiedMatching +OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:3285 semapv:UnspecifiedMatching +OMIM:603928 EIF4B skos:exactMatch hgnc.symbol:EIF4B semapv:UnspecifiedMatching OMIM:603928 EIF4B skos:exactMatch ncbigene:1975 semapv:UnspecifiedMatching -OMIM:603929 EIF4G3 skos:exactMatch hgnc:EIF4G3 semapv:UnspecifiedMatching +OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:3298 semapv:UnspecifiedMatching +OMIM:603929 EIF4G3 skos:exactMatch hgnc.symbol:EIF4G3 semapv:UnspecifiedMatching OMIM:603929 EIF4G3 skos:exactMatch ncbigene:8672 semapv:UnspecifiedMatching -OMIM:603930 GPHN skos:exactMatch hgnc:GPHN semapv:UnspecifiedMatching +OMIM:603930 GPHN skos:exactMatch hgnc.symbol:15465 semapv:UnspecifiedMatching +OMIM:603930 GPHN skos:exactMatch hgnc.symbol:GPHN semapv:UnspecifiedMatching OMIM:603930 GPHN skos:exactMatch ncbigene:10243 semapv:UnspecifiedMatching -OMIM:603931 ATP6V0E1 skos:exactMatch hgnc:ATP6V0E1 semapv:UnspecifiedMatching +OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:863 semapv:UnspecifiedMatching +OMIM:603931 ATP6V0E1 skos:exactMatch hgnc.symbol:ATP6V0E1 semapv:UnspecifiedMatching OMIM:603931 ATP6V0E1 skos:exactMatch ncbigene:8992 semapv:UnspecifiedMatching -OMIM:603934 CARM1 skos:exactMatch hgnc:CARM1 semapv:UnspecifiedMatching +OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:23393 semapv:UnspecifiedMatching +OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:CARM1 semapv:UnspecifiedMatching OMIM:603934 CARM1 skos:exactMatch ncbigene:10498 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch UMLS:C1415032 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching -OMIM:603936 GDF11 skos:exactMatch hgnc:GDF11 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:4216 semapv:UnspecifiedMatching +OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:GDF11 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch ncbigene:10220 semapv:UnspecifiedMatching -OMIM:603937 RP1 skos:exactMatch hgnc:RP1 semapv:UnspecifiedMatching +OMIM:603937 RP1 skos:exactMatch hgnc.symbol:10263 semapv:UnspecifiedMatching +OMIM:603937 RP1 skos:exactMatch hgnc.symbol:RP1 semapv:UnspecifiedMatching OMIM:603937 RP1 skos:exactMatch ncbigene:6101 semapv:UnspecifiedMatching -OMIM:603939 KCNK6 skos:exactMatch hgnc:KCNK6 semapv:UnspecifiedMatching +OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:6281 semapv:UnspecifiedMatching +OMIM:603939 KCNK6 skos:exactMatch hgnc.symbol:KCNK6 semapv:UnspecifiedMatching OMIM:603939 KCNK6 skos:exactMatch ncbigene:9424 semapv:UnspecifiedMatching -OMIM:603940 KCNK7 skos:exactMatch hgnc:KCNK7 semapv:UnspecifiedMatching +OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:6282 semapv:UnspecifiedMatching +OMIM:603940 KCNK7 skos:exactMatch hgnc.symbol:KCNK7 semapv:UnspecifiedMatching OMIM:603940 KCNK7 skos:exactMatch ncbigene:10089 semapv:UnspecifiedMatching -OMIM:603941 SLC19A2 skos:exactMatch hgnc:SLC19A2 semapv:UnspecifiedMatching +OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:10938 semapv:UnspecifiedMatching +OMIM:603941 SLC19A2 skos:exactMatch hgnc.symbol:SLC19A2 semapv:UnspecifiedMatching OMIM:603941 SLC19A2 skos:exactMatch ncbigene:10560 semapv:UnspecifiedMatching -OMIM:603942 GYG1 skos:exactMatch hgnc:GYG1 semapv:UnspecifiedMatching +OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:4699 semapv:UnspecifiedMatching +OMIM:603942 GYG1 skos:exactMatch hgnc.symbol:GYG1 semapv:UnspecifiedMatching OMIM:603942 GYG1 skos:exactMatch ncbigene:2992 semapv:UnspecifiedMatching -OMIM:603943 CDO skos:exactMatch hgnc:CDO1 semapv:UnspecifiedMatching +OMIM:603943 CDO skos:exactMatch hgnc.symbol:1795 semapv:UnspecifiedMatching +OMIM:603943 CDO skos:exactMatch hgnc.symbol:CDO1 semapv:UnspecifiedMatching OMIM:603943 CDO skos:exactMatch ncbigene:1036 semapv:UnspecifiedMatching -OMIM:603944 STX6 skos:exactMatch hgnc:STX6 semapv:UnspecifiedMatching +OMIM:603944 STX6 skos:exactMatch hgnc.symbol:11441 semapv:UnspecifiedMatching +OMIM:603944 STX6 skos:exactMatch hgnc.symbol:STX6 semapv:UnspecifiedMatching OMIM:603944 STX6 skos:exactMatch ncbigene:10228 semapv:UnspecifiedMatching -OMIM:603945 EIF2B5 skos:exactMatch hgnc:EIF2B5 semapv:UnspecifiedMatching +OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:3261 semapv:UnspecifiedMatching +OMIM:603945 EIF2B5 skos:exactMatch hgnc.symbol:EIF2B5 semapv:UnspecifiedMatching OMIM:603945 EIF2B5 skos:exactMatch ncbigene:8893 semapv:UnspecifiedMatching -OMIM:603946 HELLS skos:exactMatch hgnc:HELLS semapv:UnspecifiedMatching +OMIM:603946 HELLS skos:exactMatch hgnc.symbol:4861 semapv:UnspecifiedMatching +OMIM:603946 HELLS skos:exactMatch hgnc.symbol:HELLS semapv:UnspecifiedMatching OMIM:603946 HELLS skos:exactMatch ncbigene:3070 semapv:UnspecifiedMatching -OMIM:603947 MTA2 skos:exactMatch hgnc:MTA2 semapv:UnspecifiedMatching +OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:7411 semapv:UnspecifiedMatching +OMIM:603947 MTA2 skos:exactMatch hgnc.symbol:MTA2 semapv:UnspecifiedMatching OMIM:603947 MTA2 skos:exactMatch ncbigene:9219 semapv:UnspecifiedMatching -OMIM:603948 NUP153 skos:exactMatch hgnc:NUP153 semapv:UnspecifiedMatching +OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:8062 semapv:UnspecifiedMatching +OMIM:603948 NUP153 skos:exactMatch hgnc.symbol:NUP153 semapv:UnspecifiedMatching OMIM:603948 NUP153 skos:exactMatch ncbigene:9972 semapv:UnspecifiedMatching -OMIM:603949 RAB7L1 skos:exactMatch hgnc:RAB29 semapv:UnspecifiedMatching +OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:9789 semapv:UnspecifiedMatching +OMIM:603949 RAB7L1 skos:exactMatch hgnc.symbol:RAB29 semapv:UnspecifiedMatching OMIM:603949 RAB7L1 skos:exactMatch ncbigene:8934 semapv:UnspecifiedMatching -OMIM:603950 NDST3 skos:exactMatch hgnc:NDST3 semapv:UnspecifiedMatching +OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:7682 semapv:UnspecifiedMatching +OMIM:603950 NDST3 skos:exactMatch hgnc.symbol:NDST3 semapv:UnspecifiedMatching OMIM:603950 NDST3 skos:exactMatch ncbigene:9348 semapv:UnspecifiedMatching OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1416603 semapv:UnspecifiedMatching OMIM:603951 KCNMB1 skos:exactMatch UMLS:C1837739 semapv:UnspecifiedMatching -OMIM:603951 KCNMB1 skos:exactMatch hgnc:KCNMB1 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:6285 semapv:UnspecifiedMatching +OMIM:603951 KCNMB1 skos:exactMatch hgnc.symbol:KCNMB1 semapv:UnspecifiedMatching OMIM:603951 KCNMB1 skos:exactMatch ncbigene:3779 semapv:UnspecifiedMatching -OMIM:603952 DRG1 skos:exactMatch hgnc:DRG1 semapv:UnspecifiedMatching +OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:3029 semapv:UnspecifiedMatching +OMIM:603952 DRG1 skos:exactMatch hgnc.symbol:DRG1 semapv:UnspecifiedMatching OMIM:603952 DRG1 skos:exactMatch ncbigene:4733 semapv:UnspecifiedMatching -OMIM:603953 KCNJ14 skos:exactMatch hgnc:KCNJ14 semapv:UnspecifiedMatching +OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:6260 semapv:UnspecifiedMatching +OMIM:603953 KCNJ14 skos:exactMatch hgnc.symbol:KCNJ14 semapv:UnspecifiedMatching OMIM:603953 KCNJ14 skos:exactMatch ncbigene:3770 semapv:UnspecifiedMatching OMIM:603954 ZW10 skos:exactMatch UMLS:C1421868 semapv:UnspecifiedMatching -OMIM:603954 ZW10 skos:exactMatch hgnc:ZW10 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:13194 semapv:UnspecifiedMatching +OMIM:603954 ZW10 skos:exactMatch hgnc.symbol:ZW10 semapv:UnspecifiedMatching OMIM:603954 ZW10 skos:exactMatch ncbigene:9183 semapv:UnspecifiedMatching -OMIM:603955 FMO2 skos:exactMatch hgnc:FMO2 semapv:UnspecifiedMatching +OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:3770 semapv:UnspecifiedMatching +OMIM:603955 FMO2 skos:exactMatch hgnc.symbol:FMO2 semapv:UnspecifiedMatching OMIM:603955 FMO2 skos:exactMatch ncbigene:2327 semapv:UnspecifiedMatching -OMIM:603957 FMO5 skos:exactMatch hgnc:FMO5 semapv:UnspecifiedMatching +OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:3773 semapv:UnspecifiedMatching +OMIM:603957 FMO5 skos:exactMatch hgnc.symbol:FMO5 semapv:UnspecifiedMatching OMIM:603957 FMO5 skos:exactMatch ncbigene:2330 semapv:UnspecifiedMatching -OMIM:603958 RFX4 skos:exactMatch hgnc:RFX4 semapv:UnspecifiedMatching +OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:9985 semapv:UnspecifiedMatching +OMIM:603958 RFX4 skos:exactMatch hgnc.symbol:RFX4 semapv:UnspecifiedMatching OMIM:603958 RFX4 skos:exactMatch ncbigene:5992 semapv:UnspecifiedMatching -OMIM:603959 CLDN16 skos:exactMatch hgnc:CLDN16 semapv:UnspecifiedMatching +OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:2037 semapv:UnspecifiedMatching +OMIM:603959 CLDN16 skos:exactMatch hgnc.symbol:CLDN16 semapv:UnspecifiedMatching OMIM:603959 CLDN16 skos:exactMatch ncbigene:10686 semapv:UnspecifiedMatching -OMIM:603960 CCIN skos:exactMatch hgnc:CCIN semapv:UnspecifiedMatching +OMIM:603960 CCIN skos:exactMatch hgnc.symbol:1568 semapv:UnspecifiedMatching +OMIM:603960 CCIN skos:exactMatch hgnc.symbol:CCIN semapv:UnspecifiedMatching OMIM:603960 CCIN skos:exactMatch ncbigene:881 semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch UMLS:C1419942 semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch UMLS:C4016867 semapv:UnspecifiedMatching -OMIM:603961 SEMA3A skos:exactMatch hgnc:SEMA3A semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:10723 semapv:UnspecifiedMatching +OMIM:603961 SEMA3A skos:exactMatch hgnc.symbol:SEMA3A semapv:UnspecifiedMatching OMIM:603961 SEMA3A skos:exactMatch ncbigene:10371 semapv:UnspecifiedMatching -OMIM:603962 RASGRP1 skos:exactMatch hgnc:RASGRP1 semapv:UnspecifiedMatching +OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:9878 semapv:UnspecifiedMatching +OMIM:603962 RASGRP1 skos:exactMatch hgnc.symbol:RASGRP1 semapv:UnspecifiedMatching OMIM:603962 RASGRP1 skos:exactMatch ncbigene:10125 semapv:UnspecifiedMatching -OMIM:603963 ITGA9 skos:exactMatch hgnc:ITGA9 semapv:UnspecifiedMatching +OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:6145 semapv:UnspecifiedMatching +OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:ITGA9 semapv:UnspecifiedMatching OMIM:603963 ITGA9 skos:exactMatch ncbigene:3680 semapv:UnspecifiedMatching -OMIM:603966 AKR1C3 skos:exactMatch hgnc:AKR1C3 semapv:UnspecifiedMatching +OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:386 semapv:UnspecifiedMatching +OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:AKR1C3 semapv:UnspecifiedMatching OMIM:603966 AKR1C3 skos:exactMatch ncbigene:8644 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C0221055 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C0238357 semapv:UnspecifiedMatching @@ -16822,2360 +23029,3377 @@ OMIM:603967 SCN4A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C3280112 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C4016868 semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch UMLS:C4016869 semapv:UnspecifiedMatching -OMIM:603967 SCN4A skos:exactMatch hgnc:SCN4A semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:10591 semapv:UnspecifiedMatching +OMIM:603967 SCN4A skos:exactMatch hgnc.symbol:SCN4A semapv:UnspecifiedMatching OMIM:603967 SCN4A skos:exactMatch ncbigene:6329 semapv:UnspecifiedMatching -OMIM:603968 POLH skos:exactMatch hgnc:POLH semapv:UnspecifiedMatching +OMIM:603968 POLH skos:exactMatch hgnc.symbol:9181 semapv:UnspecifiedMatching +OMIM:603968 POLH skos:exactMatch hgnc.symbol:POLH semapv:UnspecifiedMatching OMIM:603968 POLH skos:exactMatch ncbigene:5429 semapv:UnspecifiedMatching -OMIM:603969 TNFSF13B skos:exactMatch hgnc:TNFSF13B semapv:UnspecifiedMatching +OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:11929 semapv:UnspecifiedMatching +OMIM:603969 TNFSF13B skos:exactMatch hgnc.symbol:TNFSF13B semapv:UnspecifiedMatching OMIM:603969 TNFSF13B skos:exactMatch ncbigene:10673 semapv:UnspecifiedMatching -OMIM:603970 PNMA2 skos:exactMatch hgnc:PNMA2 semapv:UnspecifiedMatching +OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:9159 semapv:UnspecifiedMatching +OMIM:603970 PNMA2 skos:exactMatch hgnc.symbol:PNMA2 semapv:UnspecifiedMatching OMIM:603970 PNMA2 skos:exactMatch ncbigene:10687 semapv:UnspecifiedMatching -OMIM:603971 ZNF91 skos:exactMatch hgnc:ZNF91 semapv:UnspecifiedMatching +OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:13166 semapv:UnspecifiedMatching +OMIM:603971 ZNF91 skos:exactMatch hgnc.symbol:ZNF91 semapv:UnspecifiedMatching OMIM:603971 ZNF91 skos:exactMatch ncbigene:7644 semapv:UnspecifiedMatching -OMIM:603972 ZNF43 skos:exactMatch hgnc:ZNF43 semapv:UnspecifiedMatching +OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:13109 semapv:UnspecifiedMatching +OMIM:603972 ZNF43 skos:exactMatch hgnc.symbol:ZNF43 semapv:UnspecifiedMatching OMIM:603972 ZNF43 skos:exactMatch ncbigene:7594 semapv:UnspecifiedMatching -OMIM:603973 ZNF90 skos:exactMatch hgnc:ZNF90 semapv:UnspecifiedMatching +OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:13165 semapv:UnspecifiedMatching +OMIM:603973 ZNF90 skos:exactMatch hgnc.symbol:ZNF90 semapv:UnspecifiedMatching OMIM:603973 ZNF90 skos:exactMatch ncbigene:7643 semapv:UnspecifiedMatching -OMIM:603974 ZNF92 skos:exactMatch hgnc:ZNF92 semapv:UnspecifiedMatching +OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:13168 semapv:UnspecifiedMatching +OMIM:603974 ZNF92 skos:exactMatch hgnc.symbol:ZNF92 semapv:UnspecifiedMatching OMIM:603974 ZNF92 skos:exactMatch ncbigene:168374 semapv:UnspecifiedMatching -OMIM:603975 ZNF93 skos:exactMatch hgnc:ZNF93 semapv:UnspecifiedMatching +OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:13169 semapv:UnspecifiedMatching +OMIM:603975 ZNF93 skos:exactMatch hgnc.symbol:ZNF93 semapv:UnspecifiedMatching OMIM:603975 ZNF93 skos:exactMatch ncbigene:81931 semapv:UnspecifiedMatching OMIM:603976 zinc finger protein 94 skos:exactMatch UMLS:C1858876 semapv:UnspecifiedMatching -OMIM:603977 ZNF208 skos:exactMatch hgnc:ZNF208 semapv:UnspecifiedMatching +OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:12999 semapv:UnspecifiedMatching +OMIM:603977 ZNF208 skos:exactMatch hgnc.symbol:ZNF208 semapv:UnspecifiedMatching OMIM:603977 ZNF208 skos:exactMatch ncbigene:7757 semapv:UnspecifiedMatching -OMIM:603978 ZSCAN12 skos:exactMatch hgnc:ZSCAN12 semapv:UnspecifiedMatching +OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:13172 semapv:UnspecifiedMatching +OMIM:603978 ZSCAN12 skos:exactMatch hgnc.symbol:ZSCAN12 semapv:UnspecifiedMatching OMIM:603978 ZSCAN12 skos:exactMatch ncbigene:9753 semapv:UnspecifiedMatching OMIM:603979 zinc finger protein 97 skos:exactMatch UMLS:C1421855 semapv:UnspecifiedMatching -OMIM:603980 ZNF98 skos:exactMatch hgnc:ZNF98 semapv:UnspecifiedMatching +OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:13174 semapv:UnspecifiedMatching +OMIM:603980 ZNF98 skos:exactMatch hgnc.symbol:ZNF98 semapv:UnspecifiedMatching OMIM:603980 ZNF98 skos:exactMatch ncbigene:148198 semapv:UnspecifiedMatching -OMIM:603981 ZNF99 skos:exactMatch hgnc:ZNF99 semapv:UnspecifiedMatching +OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:13175 semapv:UnspecifiedMatching +OMIM:603981 ZNF99 skos:exactMatch hgnc.symbol:ZNF99 semapv:UnspecifiedMatching OMIM:603981 ZNF99 skos:exactMatch ncbigene:7652 semapv:UnspecifiedMatching -OMIM:603982 ZNF100 skos:exactMatch hgnc:ZNF100 semapv:UnspecifiedMatching +OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:12880 semapv:UnspecifiedMatching +OMIM:603982 ZNF100 skos:exactMatch hgnc.symbol:ZNF100 semapv:UnspecifiedMatching OMIM:603982 ZNF100 skos:exactMatch ncbigene:163227 semapv:UnspecifiedMatching -OMIM:603983 ZNF101 skos:exactMatch hgnc:ZNF101 semapv:UnspecifiedMatching +OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:12881 semapv:UnspecifiedMatching +OMIM:603983 ZNF101 skos:exactMatch hgnc.symbol:ZNF101 semapv:UnspecifiedMatching OMIM:603983 ZNF101 skos:exactMatch ncbigene:94039 semapv:UnspecifiedMatching -OMIM:603984 ZNF737 skos:exactMatch hgnc:ZNF737 semapv:UnspecifiedMatching +OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:32468 semapv:UnspecifiedMatching +OMIM:603984 ZNF737 skos:exactMatch hgnc.symbol:ZNF737 semapv:UnspecifiedMatching OMIM:603984 ZNF737 skos:exactMatch ncbigene:100129842 semapv:UnspecifiedMatching OMIM:603985 zinc finger protein 103 skos:exactMatch UMLS:C1858873 semapv:UnspecifiedMatching OMIM:603987 zinc finger protein 105 skos:exactMatch UMLS:C1858872 semapv:UnspecifiedMatching OMIM:603988 zinc finger protein 106 skos:exactMatch UMLS:C1858871 semapv:UnspecifiedMatching -OMIM:603989 ZNF107 skos:exactMatch hgnc:ZNF107 semapv:UnspecifiedMatching +OMIM:603989 ZNF107 skos:exactMatch hgnc.symbol:12887 semapv:UnspecifiedMatching +OMIM:603989 ZNF107 skos:exactMatch hgnc.symbol:ZNF107 semapv:UnspecifiedMatching OMIM:603989 ZNF107 skos:exactMatch ncbigene:51427 semapv:UnspecifiedMatching OMIM:603991 zinc finger protein 109 skos:exactMatch UMLS:C1858870 semapv:UnspecifiedMatching OMIM:603992 zinc finger protein 110 skos:exactMatch UMLS:C1858869 semapv:UnspecifiedMatching OMIM:603993 zinc finger protein 111 skos:exactMatch UMLS:C1858868 semapv:UnspecifiedMatching -OMIM:603994 ZNF112 skos:exactMatch hgnc:ZNF112 semapv:UnspecifiedMatching +OMIM:603994 ZNF112 skos:exactMatch hgnc.symbol:12892 semapv:UnspecifiedMatching +OMIM:603994 ZNF112 skos:exactMatch hgnc.symbol:ZNF112 semapv:UnspecifiedMatching OMIM:603994 ZNF112 skos:exactMatch ncbigene:7771 semapv:UnspecifiedMatching OMIM:603995 zinc finger protein 113 skos:exactMatch UMLS:C1858866 semapv:UnspecifiedMatching -OMIM:603996 ZNF114 skos:exactMatch hgnc:ZNF114 semapv:UnspecifiedMatching +OMIM:603996 ZNF114 skos:exactMatch hgnc.symbol:12894 semapv:UnspecifiedMatching +OMIM:603996 ZNF114 skos:exactMatch hgnc.symbol:ZNF114 semapv:UnspecifiedMatching OMIM:603996 ZNF114 skos:exactMatch ncbigene:163071 semapv:UnspecifiedMatching OMIM:603997 zinc finger protein 118 skos:exactMatch UMLS:C1858865 semapv:UnspecifiedMatching OMIM:603998 zinc finger protein 119 skos:exactMatch UMLS:C1858864 semapv:UnspecifiedMatching OMIM:604000 zinc finger protein 122 skos:exactMatch UMLS:C1858862 semapv:UnspecifiedMatching -OMIM:604001 AKAP9 skos:exactMatch hgnc:AKAP9 semapv:UnspecifiedMatching +OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:379 semapv:UnspecifiedMatching +OMIM:604001 AKAP9 skos:exactMatch hgnc.symbol:AKAP9 semapv:UnspecifiedMatching OMIM:604001 AKAP9 skos:exactMatch ncbigene:10142 semapv:UnspecifiedMatching -OMIM:604002 ROCK2 skos:exactMatch hgnc:ROCK2 semapv:UnspecifiedMatching +OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:10252 semapv:UnspecifiedMatching +OMIM:604002 ROCK2 skos:exactMatch hgnc.symbol:ROCK2 semapv:UnspecifiedMatching OMIM:604002 ROCK2 skos:exactMatch ncbigene:9475 semapv:UnspecifiedMatching -OMIM:604003 CLCA2 skos:exactMatch hgnc:CLCA2 semapv:UnspecifiedMatching +OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:2016 semapv:UnspecifiedMatching +OMIM:604003 CLCA2 skos:exactMatch hgnc.symbol:CLCA2 semapv:UnspecifiedMatching OMIM:604003 CLCA2 skos:exactMatch ncbigene:9635 semapv:UnspecifiedMatching -OMIM:604008 PTPRZ2 skos:exactMatch hgnc:PTPRZ2 semapv:UnspecifiedMatching +OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:9686 semapv:UnspecifiedMatching +OMIM:604008 PTPRZ2 skos:exactMatch hgnc.symbol:PTPRZ2 semapv:UnspecifiedMatching OMIM:604008 PTPRZ2 skos:exactMatch ncbigene:5804 semapv:UnspecifiedMatching -OMIM:604009 BAIAP3 skos:exactMatch hgnc:BAIAP3 semapv:UnspecifiedMatching +OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:948 semapv:UnspecifiedMatching +OMIM:604009 BAIAP3 skos:exactMatch hgnc.symbol:BAIAP3 semapv:UnspecifiedMatching OMIM:604009 BAIAP3 skos:exactMatch ncbigene:8938 semapv:UnspecifiedMatching -OMIM:604010 PNMA1 skos:exactMatch hgnc:PNMA1 semapv:UnspecifiedMatching +OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:9158 semapv:UnspecifiedMatching +OMIM:604010 PNMA1 skos:exactMatch hgnc.symbol:PNMA1 semapv:UnspecifiedMatching OMIM:604010 PNMA1 skos:exactMatch ncbigene:9240 semapv:UnspecifiedMatching -OMIM:604011 UNC119 skos:exactMatch hgnc:UNC119 semapv:UnspecifiedMatching +OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:12565 semapv:UnspecifiedMatching +OMIM:604011 UNC119 skos:exactMatch hgnc.symbol:UNC119 semapv:UnspecifiedMatching OMIM:604011 UNC119 skos:exactMatch ncbigene:9094 semapv:UnspecifiedMatching -OMIM:604012 RNU20 skos:exactMatch hgnc:SNORD20 semapv:UnspecifiedMatching +OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:10143 semapv:UnspecifiedMatching +OMIM:604012 RNU20 skos:exactMatch hgnc.symbol:SNORD20 semapv:UnspecifiedMatching OMIM:604012 RNU20 skos:exactMatch ncbigene:6082 semapv:UnspecifiedMatching -OMIM:604013 B4GALT2 skos:exactMatch hgnc:B4GALT2 semapv:UnspecifiedMatching +OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:925 semapv:UnspecifiedMatching +OMIM:604013 B4GALT2 skos:exactMatch hgnc.symbol:B4GALT2 semapv:UnspecifiedMatching OMIM:604013 B4GALT2 skos:exactMatch ncbigene:8704 semapv:UnspecifiedMatching -OMIM:604014 B4GALT3 skos:exactMatch hgnc:B4GALT3 semapv:UnspecifiedMatching +OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:926 semapv:UnspecifiedMatching +OMIM:604014 B4GALT3 skos:exactMatch hgnc.symbol:B4GALT3 semapv:UnspecifiedMatching OMIM:604014 B4GALT3 skos:exactMatch ncbigene:8703 semapv:UnspecifiedMatching -OMIM:604015 B4GALT4 skos:exactMatch hgnc:B4GALT4 semapv:UnspecifiedMatching +OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:927 semapv:UnspecifiedMatching +OMIM:604015 B4GALT4 skos:exactMatch hgnc.symbol:B4GALT4 semapv:UnspecifiedMatching OMIM:604015 B4GALT4 skos:exactMatch ncbigene:8702 semapv:UnspecifiedMatching -OMIM:604016 B4GALT5 skos:exactMatch hgnc:B4GALT5 semapv:UnspecifiedMatching +OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:928 semapv:UnspecifiedMatching +OMIM:604016 B4GALT5 skos:exactMatch hgnc.symbol:B4GALT5 semapv:UnspecifiedMatching OMIM:604016 B4GALT5 skos:exactMatch ncbigene:9334 semapv:UnspecifiedMatching -OMIM:604017 B4GALT6 skos:exactMatch hgnc:B4GALT6 semapv:UnspecifiedMatching +OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:929 semapv:UnspecifiedMatching +OMIM:604017 B4GALT6 skos:exactMatch hgnc.symbol:B4GALT6 semapv:UnspecifiedMatching OMIM:604017 B4GALT6 skos:exactMatch ncbigene:9331 semapv:UnspecifiedMatching OMIM:604018 NUMBL skos:exactMatch UMLS:C1417891 semapv:UnspecifiedMatching -OMIM:604018 NUMBL skos:exactMatch hgnc:NUMBL semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:8061 semapv:UnspecifiedMatching +OMIM:604018 NUMBL skos:exactMatch hgnc.symbol:NUMBL semapv:UnspecifiedMatching OMIM:604018 NUMBL skos:exactMatch ncbigene:9253 semapv:UnspecifiedMatching -OMIM:604019 AGFG2 skos:exactMatch hgnc:AGFG2 semapv:UnspecifiedMatching +OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:5177 semapv:UnspecifiedMatching +OMIM:604019 AGFG2 skos:exactMatch hgnc.symbol:AGFG2 semapv:UnspecifiedMatching OMIM:604019 AGFG2 skos:exactMatch ncbigene:3268 semapv:UnspecifiedMatching OMIM:604020 BSN skos:exactMatch UMLS:C1412829 semapv:UnspecifiedMatching -OMIM:604020 BSN skos:exactMatch hgnc:BSN semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch hgnc.symbol:1117 semapv:UnspecifiedMatching +OMIM:604020 BSN skos:exactMatch hgnc.symbol:BSN semapv:UnspecifiedMatching OMIM:604020 BSN skos:exactMatch ncbigene:8927 semapv:UnspecifiedMatching OMIM:604024 SLC5A6 skos:exactMatch UMLS:C1420205 semapv:UnspecifiedMatching OMIM:604024 SLC5A6 skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching -OMIM:604024 SLC5A6 skos:exactMatch hgnc:SLC5A6 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:11041 semapv:UnspecifiedMatching +OMIM:604024 SLC5A6 skos:exactMatch hgnc.symbol:SLC5A6 semapv:UnspecifiedMatching OMIM:604024 SLC5A6 skos:exactMatch ncbigene:8884 semapv:UnspecifiedMatching -OMIM:604025 AXIN2 skos:exactMatch hgnc:AXIN2 semapv:UnspecifiedMatching +OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:904 semapv:UnspecifiedMatching +OMIM:604025 AXIN2 skos:exactMatch hgnc.symbol:AXIN2 semapv:UnspecifiedMatching OMIM:604025 AXIN2 skos:exactMatch ncbigene:8313 semapv:UnspecifiedMatching -OMIM:604026 GOSR1 skos:exactMatch hgnc:GOSR1 semapv:UnspecifiedMatching +OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:4430 semapv:UnspecifiedMatching +OMIM:604026 GOSR1 skos:exactMatch hgnc.symbol:GOSR1 semapv:UnspecifiedMatching OMIM:604026 GOSR1 skos:exactMatch ncbigene:9527 semapv:UnspecifiedMatching -OMIM:604027 GOSR2 skos:exactMatch hgnc:GOSR2 semapv:UnspecifiedMatching +OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:4431 semapv:UnspecifiedMatching +OMIM:604027 GOSR2 skos:exactMatch hgnc.symbol:GOSR2 semapv:UnspecifiedMatching OMIM:604027 GOSR2 skos:exactMatch ncbigene:9570 semapv:UnspecifiedMatching -OMIM:604028 SEC22C skos:exactMatch hgnc:SEC22C semapv:UnspecifiedMatching +OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:16828 semapv:UnspecifiedMatching +OMIM:604028 SEC22C skos:exactMatch hgnc.symbol:SEC22C semapv:UnspecifiedMatching OMIM:604028 SEC22C skos:exactMatch ncbigene:9117 semapv:UnspecifiedMatching -OMIM:604029 SEC22B skos:exactMatch hgnc:SEC22B semapv:UnspecifiedMatching +OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:10700 semapv:UnspecifiedMatching +OMIM:604029 SEC22B skos:exactMatch hgnc.symbol:SEC22B semapv:UnspecifiedMatching OMIM:604029 SEC22B skos:exactMatch ncbigene:9554 semapv:UnspecifiedMatching -OMIM:604030 PSMB7 skos:exactMatch hgnc:PSMB7 semapv:UnspecifiedMatching +OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:9544 semapv:UnspecifiedMatching +OMIM:604030 PSMB7 skos:exactMatch hgnc.symbol:PSMB7 semapv:UnspecifiedMatching OMIM:604030 PSMB7 skos:exactMatch ncbigene:5695 semapv:UnspecifiedMatching -OMIM:604031 SCD skos:exactMatch hgnc:SCD semapv:UnspecifiedMatching +OMIM:604031 SCD skos:exactMatch hgnc.symbol:10571 semapv:UnspecifiedMatching +OMIM:604031 SCD skos:exactMatch hgnc.symbol:SCD semapv:UnspecifiedMatching OMIM:604031 SCD skos:exactMatch ncbigene:6319 semapv:UnspecifiedMatching -OMIM:604032 EIF2AK3 skos:exactMatch hgnc:EIF2AK3 semapv:UnspecifiedMatching +OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:3255 semapv:UnspecifiedMatching +OMIM:604032 EIF2AK3 skos:exactMatch hgnc.symbol:EIF2AK3 semapv:UnspecifiedMatching OMIM:604032 EIF2AK3 skos:exactMatch ncbigene:9451 semapv:UnspecifiedMatching -OMIM:604033 ERN1 skos:exactMatch hgnc:ERN1 semapv:UnspecifiedMatching +OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:3449 semapv:UnspecifiedMatching +OMIM:604033 ERN1 skos:exactMatch hgnc.symbol:ERN1 semapv:UnspecifiedMatching OMIM:604033 ERN1 skos:exactMatch ncbigene:2081 semapv:UnspecifiedMatching -OMIM:604034 ERN2 skos:exactMatch hgnc:ERN2 semapv:UnspecifiedMatching +OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:16942 semapv:UnspecifiedMatching +OMIM:604034 ERN2 skos:exactMatch hgnc.symbol:ERN2 semapv:UnspecifiedMatching OMIM:604034 ERN2 skos:exactMatch ncbigene:10595 semapv:UnspecifiedMatching -OMIM:604035 CYLC2 skos:exactMatch hgnc:CYLC2 semapv:UnspecifiedMatching +OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:2583 semapv:UnspecifiedMatching +OMIM:604035 CYLC2 skos:exactMatch hgnc.symbol:CYLC2 semapv:UnspecifiedMatching OMIM:604035 CYLC2 skos:exactMatch ncbigene:1539 semapv:UnspecifiedMatching -OMIM:604036 CCNA1 skos:exactMatch hgnc:CCNA1 semapv:UnspecifiedMatching +OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:1577 semapv:UnspecifiedMatching +OMIM:604036 CCNA1 skos:exactMatch hgnc.symbol:CCNA1 semapv:UnspecifiedMatching OMIM:604036 CCNA1 skos:exactMatch ncbigene:8900 semapv:UnspecifiedMatching -OMIM:604037 RAB5C skos:exactMatch hgnc:RAB5C semapv:UnspecifiedMatching +OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:9785 semapv:UnspecifiedMatching +OMIM:604037 RAB5C skos:exactMatch hgnc.symbol:RAB5C semapv:UnspecifiedMatching OMIM:604037 RAB5C skos:exactMatch ncbigene:5878 semapv:UnspecifiedMatching -OMIM:604038 HYAL3 skos:exactMatch hgnc:HYAL3 semapv:UnspecifiedMatching +OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:5322 semapv:UnspecifiedMatching +OMIM:604038 HYAL3 skos:exactMatch hgnc.symbol:HYAL3 semapv:UnspecifiedMatching OMIM:604038 HYAL3 skos:exactMatch ncbigene:8372 semapv:UnspecifiedMatching -OMIM:604039 OGA skos:exactMatch hgnc:OGA semapv:UnspecifiedMatching +OMIM:604039 OGA skos:exactMatch hgnc.symbol:7056 semapv:UnspecifiedMatching +OMIM:604039 OGA skos:exactMatch hgnc.symbol:OGA semapv:UnspecifiedMatching OMIM:604039 OGA skos:exactMatch ncbigene:10724 semapv:UnspecifiedMatching -OMIM:604040 RAD50 skos:exactMatch hgnc:RAD50 semapv:UnspecifiedMatching +OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:9816 semapv:UnspecifiedMatching +OMIM:604040 RAD50 skos:exactMatch hgnc.symbol:RAD50 semapv:UnspecifiedMatching OMIM:604040 RAD50 skos:exactMatch ncbigene:10111 semapv:UnspecifiedMatching -OMIM:604041 MPDU1 skos:exactMatch hgnc:MPDU1 semapv:UnspecifiedMatching +OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:7207 semapv:UnspecifiedMatching +OMIM:604041 MPDU1 skos:exactMatch hgnc.symbol:MPDU1 semapv:UnspecifiedMatching OMIM:604041 MPDU1 skos:exactMatch ncbigene:9526 semapv:UnspecifiedMatching -OMIM:604042 ITGA10 skos:exactMatch hgnc:ITGA10 semapv:UnspecifiedMatching +OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:6135 semapv:UnspecifiedMatching +OMIM:604042 ITGA10 skos:exactMatch hgnc.symbol:ITGA10 semapv:UnspecifiedMatching OMIM:604042 ITGA10 skos:exactMatch ncbigene:8515 semapv:UnspecifiedMatching OMIM:604043 NEK2 skos:exactMatch UMLS:C1417672 semapv:UnspecifiedMatching OMIM:604043 NEK2 skos:exactMatch UMLS:C3809954 semapv:UnspecifiedMatching -OMIM:604043 NEK2 skos:exactMatch hgnc:NEK2 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:7745 semapv:UnspecifiedMatching +OMIM:604043 NEK2 skos:exactMatch hgnc.symbol:NEK2 semapv:UnspecifiedMatching OMIM:604043 NEK2 skos:exactMatch ncbigene:4751 semapv:UnspecifiedMatching -OMIM:604044 NEK3 skos:exactMatch hgnc:NEK3 semapv:UnspecifiedMatching +OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:7746 semapv:UnspecifiedMatching +OMIM:604044 NEK3 skos:exactMatch hgnc.symbol:NEK3 semapv:UnspecifiedMatching OMIM:604044 NEK3 skos:exactMatch ncbigene:4752 semapv:UnspecifiedMatching -OMIM:604045 PRMT5 skos:exactMatch hgnc:PRMT5 semapv:UnspecifiedMatching +OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:10894 semapv:UnspecifiedMatching +OMIM:604045 PRMT5 skos:exactMatch hgnc.symbol:PRMT5 semapv:UnspecifiedMatching OMIM:604045 PRMT5 skos:exactMatch ncbigene:10419 semapv:UnspecifiedMatching -OMIM:604046 OXSR1 skos:exactMatch hgnc:OXSR1 semapv:UnspecifiedMatching +OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:8508 semapv:UnspecifiedMatching +OMIM:604046 OXSR1 skos:exactMatch hgnc.symbol:OXSR1 semapv:UnspecifiedMatching OMIM:604046 OXSR1 skos:exactMatch ncbigene:9943 semapv:UnspecifiedMatching -OMIM:604047 SLC22A13 skos:exactMatch hgnc:SLC22A13 semapv:UnspecifiedMatching +OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:8494 semapv:UnspecifiedMatching +OMIM:604047 SLC22A13 skos:exactMatch hgnc.symbol:SLC22A13 semapv:UnspecifiedMatching OMIM:604047 SLC22A13 skos:exactMatch ncbigene:9390 semapv:UnspecifiedMatching -OMIM:604048 SLC22A14 skos:exactMatch hgnc:SLC22A14 semapv:UnspecifiedMatching +OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:8495 semapv:UnspecifiedMatching +OMIM:604048 SLC22A14 skos:exactMatch hgnc.symbol:SLC22A14 semapv:UnspecifiedMatching OMIM:604048 SLC22A14 skos:exactMatch ncbigene:9389 semapv:UnspecifiedMatching -OMIM:604049 XYLB skos:exactMatch hgnc:XYLB semapv:UnspecifiedMatching +OMIM:604049 XYLB skos:exactMatch hgnc.symbol:12839 semapv:UnspecifiedMatching +OMIM:604049 XYLB skos:exactMatch hgnc.symbol:XYLB semapv:UnspecifiedMatching OMIM:604049 XYLB skos:exactMatch ncbigene:9942 semapv:UnspecifiedMatching -OMIM:604050 DLEC1 skos:exactMatch hgnc:DLEC1 semapv:UnspecifiedMatching +OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:2899 semapv:UnspecifiedMatching +OMIM:604050 DLEC1 skos:exactMatch hgnc.symbol:DLEC1 semapv:UnspecifiedMatching OMIM:604050 DLEC1 skos:exactMatch ncbigene:9940 semapv:UnspecifiedMatching -OMIM:604051 EXOG skos:exactMatch hgnc:EXOG semapv:UnspecifiedMatching +OMIM:604051 EXOG skos:exactMatch hgnc.symbol:3347 semapv:UnspecifiedMatching +OMIM:604051 EXOG skos:exactMatch hgnc.symbol:EXOG semapv:UnspecifiedMatching OMIM:604051 EXOG skos:exactMatch ncbigene:9941 semapv:UnspecifiedMatching -OMIM:604052 TNFSF15 skos:exactMatch hgnc:TNFSF15 semapv:UnspecifiedMatching +OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:11931 semapv:UnspecifiedMatching +OMIM:604052 TNFSF15 skos:exactMatch hgnc.symbol:TNFSF15 semapv:UnspecifiedMatching OMIM:604052 TNFSF15 skos:exactMatch ncbigene:9966 semapv:UnspecifiedMatching -OMIM:604053 BPNT1 skos:exactMatch hgnc:BPNT1 semapv:UnspecifiedMatching +OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:1096 semapv:UnspecifiedMatching +OMIM:604053 BPNT1 skos:exactMatch hgnc.symbol:BPNT1 semapv:UnspecifiedMatching OMIM:604053 BPNT1 skos:exactMatch ncbigene:10380 semapv:UnspecifiedMatching -OMIM:604054 ACAA1 skos:exactMatch hgnc:ACAA1 semapv:UnspecifiedMatching +OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:82 semapv:UnspecifiedMatching +OMIM:604054 ACAA1 skos:exactMatch hgnc.symbol:ACAA1 semapv:UnspecifiedMatching OMIM:604054 ACAA1 skos:exactMatch ncbigene:30 semapv:UnspecifiedMatching -OMIM:604055 IDI1 skos:exactMatch hgnc:IDI1 semapv:UnspecifiedMatching +OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:5387 semapv:UnspecifiedMatching +OMIM:604055 IDI1 skos:exactMatch hgnc.symbol:IDI1 semapv:UnspecifiedMatching OMIM:604055 IDI1 skos:exactMatch ncbigene:3422 semapv:UnspecifiedMatching -OMIM:604056 HS3ST2 skos:exactMatch hgnc:HS3ST2 semapv:UnspecifiedMatching +OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:5195 semapv:UnspecifiedMatching +OMIM:604056 HS3ST2 skos:exactMatch hgnc.symbol:HS3ST2 semapv:UnspecifiedMatching OMIM:604056 HS3ST2 skos:exactMatch ncbigene:9956 semapv:UnspecifiedMatching -OMIM:604057 HS3ST3A1 skos:exactMatch hgnc:HS3ST3A1 semapv:UnspecifiedMatching +OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:5196 semapv:UnspecifiedMatching +OMIM:604057 HS3ST3A1 skos:exactMatch hgnc.symbol:HS3ST3A1 semapv:UnspecifiedMatching OMIM:604057 HS3ST3A1 skos:exactMatch ncbigene:9955 semapv:UnspecifiedMatching -OMIM:604058 HS3ST3B1 skos:exactMatch hgnc:HS3ST3B1 semapv:UnspecifiedMatching +OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:5198 semapv:UnspecifiedMatching +OMIM:604058 HS3ST3B1 skos:exactMatch hgnc.symbol:HS3ST3B1 semapv:UnspecifiedMatching OMIM:604058 HS3ST3B1 skos:exactMatch ncbigene:9953 semapv:UnspecifiedMatching -OMIM:604059 HS3ST4 skos:exactMatch hgnc:HS3ST4 semapv:UnspecifiedMatching +OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:5200 semapv:UnspecifiedMatching +OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:HS3ST4 semapv:UnspecifiedMatching OMIM:604059 HS3ST4 skos:exactMatch ncbigene:9951 semapv:UnspecifiedMatching -OMIM:604061 SEPT9 skos:exactMatch hgnc:SEPTIN9 semapv:UnspecifiedMatching +OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:7323 semapv:UnspecifiedMatching +OMIM:604061 SEPT9 skos:exactMatch hgnc.symbol:SEPTIN9 semapv:UnspecifiedMatching OMIM:604061 SEPT9 skos:exactMatch ncbigene:10801 semapv:UnspecifiedMatching -OMIM:604062 MED16 skos:exactMatch hgnc:MED16 semapv:UnspecifiedMatching +OMIM:604062 MED16 skos:exactMatch hgnc.symbol:17556 semapv:UnspecifiedMatching +OMIM:604062 MED16 skos:exactMatch hgnc.symbol:MED16 semapv:UnspecifiedMatching OMIM:604062 MED16 skos:exactMatch ncbigene:10025 semapv:UnspecifiedMatching -OMIM:604063 ITGA8 skos:exactMatch hgnc:ITGA8 semapv:UnspecifiedMatching +OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:6144 semapv:UnspecifiedMatching +OMIM:604063 ITGA8 skos:exactMatch hgnc.symbol:ITGA8 semapv:UnspecifiedMatching OMIM:604063 ITGA8 skos:exactMatch ncbigene:8516 semapv:UnspecifiedMatching OMIM:604064 ATF4 skos:exactMatch UMLS:C1412617 semapv:UnspecifiedMatching -OMIM:604064 ATF4 skos:exactMatch hgnc:ATF4 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:786 semapv:UnspecifiedMatching +OMIM:604064 ATF4 skos:exactMatch hgnc.symbol:ATF4 semapv:UnspecifiedMatching OMIM:604064 ATF4 skos:exactMatch ncbigene:468 semapv:UnspecifiedMatching -OMIM:604065 CACNA1G skos:exactMatch hgnc:CACNA1G semapv:UnspecifiedMatching +OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:1394 semapv:UnspecifiedMatching +OMIM:604065 CACNA1G skos:exactMatch hgnc.symbol:CACNA1G semapv:UnspecifiedMatching OMIM:604065 CACNA1G skos:exactMatch ncbigene:8913 semapv:UnspecifiedMatching -OMIM:604066 B3GALT5 skos:exactMatch hgnc:B3GALT5 semapv:UnspecifiedMatching +OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:920 semapv:UnspecifiedMatching +OMIM:604066 B3GALT5 skos:exactMatch hgnc.symbol:B3GALT5 semapv:UnspecifiedMatching OMIM:604066 B3GALT5 skos:exactMatch ncbigene:10317 semapv:UnspecifiedMatching -OMIM:604067 RGS9 skos:exactMatch hgnc:RGS9 semapv:UnspecifiedMatching +OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:10004 semapv:UnspecifiedMatching +OMIM:604067 RGS9 skos:exactMatch hgnc.symbol:RGS9 semapv:UnspecifiedMatching OMIM:604067 RGS9 skos:exactMatch ncbigene:8787 semapv:UnspecifiedMatching -OMIM:604068 TPD52 skos:exactMatch hgnc:TPD52 semapv:UnspecifiedMatching +OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:12005 semapv:UnspecifiedMatching +OMIM:604068 TPD52 skos:exactMatch hgnc.symbol:TPD52 semapv:UnspecifiedMatching OMIM:604068 TPD52 skos:exactMatch ncbigene:7163 semapv:UnspecifiedMatching -OMIM:604069 TPD52L1 skos:exactMatch hgnc:TPD52L1 semapv:UnspecifiedMatching +OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:12006 semapv:UnspecifiedMatching +OMIM:604069 TPD52L1 skos:exactMatch hgnc.symbol:TPD52L1 semapv:UnspecifiedMatching OMIM:604069 TPD52L1 skos:exactMatch ncbigene:7164 semapv:UnspecifiedMatching -OMIM:604070 DGKB skos:exactMatch hgnc:DGKB semapv:UnspecifiedMatching +OMIM:604070 DGKB skos:exactMatch hgnc.symbol:2850 semapv:UnspecifiedMatching +OMIM:604070 DGKB skos:exactMatch hgnc.symbol:DGKB semapv:UnspecifiedMatching OMIM:604070 DGKB skos:exactMatch ncbigene:1607 semapv:UnspecifiedMatching -OMIM:604071 DGKH skos:exactMatch hgnc:DGKH semapv:UnspecifiedMatching +OMIM:604071 DGKH skos:exactMatch hgnc.symbol:2854 semapv:UnspecifiedMatching +OMIM:604071 DGKH skos:exactMatch hgnc.symbol:DGKH semapv:UnspecifiedMatching OMIM:604071 DGKH skos:exactMatch ncbigene:160851 semapv:UnspecifiedMatching -OMIM:604072 DGKI skos:exactMatch hgnc:DGKI semapv:UnspecifiedMatching +OMIM:604072 DGKI skos:exactMatch hgnc.symbol:2855 semapv:UnspecifiedMatching +OMIM:604072 DGKI skos:exactMatch hgnc.symbol:DGKI semapv:UnspecifiedMatching OMIM:604072 DGKI skos:exactMatch ncbigene:9162 semapv:UnspecifiedMatching -OMIM:604073 ZNF131 skos:exactMatch hgnc:ZNF131 semapv:UnspecifiedMatching +OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:12915 semapv:UnspecifiedMatching +OMIM:604073 ZNF131 skos:exactMatch hgnc.symbol:ZNF131 semapv:UnspecifiedMatching OMIM:604073 ZNF131 skos:exactMatch ncbigene:7690 semapv:UnspecifiedMatching -OMIM:604074 ZNF132 skos:exactMatch hgnc:ZNF132 semapv:UnspecifiedMatching +OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:12916 semapv:UnspecifiedMatching +OMIM:604074 ZNF132 skos:exactMatch hgnc.symbol:ZNF132 semapv:UnspecifiedMatching OMIM:604074 ZNF132 skos:exactMatch ncbigene:7691 semapv:UnspecifiedMatching -OMIM:604075 ZNF133 skos:exactMatch hgnc:ZNF133 semapv:UnspecifiedMatching +OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:12917 semapv:UnspecifiedMatching +OMIM:604075 ZNF133 skos:exactMatch hgnc.symbol:ZNF133 semapv:UnspecifiedMatching OMIM:604075 ZNF133 skos:exactMatch ncbigene:7692 semapv:UnspecifiedMatching -OMIM:604076 ZNF134 skos:exactMatch hgnc:ZNF134 semapv:UnspecifiedMatching +OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:12918 semapv:UnspecifiedMatching +OMIM:604076 ZNF134 skos:exactMatch hgnc.symbol:ZNF134 semapv:UnspecifiedMatching OMIM:604076 ZNF134 skos:exactMatch ncbigene:7693 semapv:UnspecifiedMatching -OMIM:604077 ZNF135 skos:exactMatch hgnc:ZNF135 semapv:UnspecifiedMatching +OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:12919 semapv:UnspecifiedMatching +OMIM:604077 ZNF135 skos:exactMatch hgnc.symbol:ZNF135 semapv:UnspecifiedMatching OMIM:604077 ZNF135 skos:exactMatch ncbigene:7694 semapv:UnspecifiedMatching -OMIM:604078 ZNF136 skos:exactMatch hgnc:ZNF136 semapv:UnspecifiedMatching +OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:12920 semapv:UnspecifiedMatching +OMIM:604078 ZNF136 skos:exactMatch hgnc.symbol:ZNF136 semapv:UnspecifiedMatching OMIM:604078 ZNF136 skos:exactMatch ncbigene:7695 semapv:UnspecifiedMatching -OMIM:604079 ZNF137 skos:exactMatch hgnc:ZNF137P semapv:UnspecifiedMatching +OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:12921 semapv:UnspecifiedMatching +OMIM:604079 ZNF137 skos:exactMatch hgnc.symbol:ZNF137P semapv:UnspecifiedMatching OMIM:604079 ZNF137 skos:exactMatch ncbigene:7696 semapv:UnspecifiedMatching -OMIM:604080 ZNF138 skos:exactMatch hgnc:ZNF138 semapv:UnspecifiedMatching +OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:12922 semapv:UnspecifiedMatching +OMIM:604080 ZNF138 skos:exactMatch hgnc.symbol:ZNF138 semapv:UnspecifiedMatching OMIM:604080 ZNF138 skos:exactMatch ncbigene:7697 semapv:UnspecifiedMatching -OMIM:604082 ZNF140 skos:exactMatch hgnc:ZNF140 semapv:UnspecifiedMatching +OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:12925 semapv:UnspecifiedMatching +OMIM:604082 ZNF140 skos:exactMatch hgnc.symbol:ZNF140 semapv:UnspecifiedMatching OMIM:604082 ZNF140 skos:exactMatch ncbigene:7699 semapv:UnspecifiedMatching -OMIM:604083 ZNF142 skos:exactMatch hgnc:ZNF142 semapv:UnspecifiedMatching +OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:12927 semapv:UnspecifiedMatching +OMIM:604083 ZNF142 skos:exactMatch hgnc.symbol:ZNF142 semapv:UnspecifiedMatching OMIM:604083 ZNF142 skos:exactMatch ncbigene:7701 semapv:UnspecifiedMatching -OMIM:604084 ZBTB17 skos:exactMatch hgnc:ZBTB17 semapv:UnspecifiedMatching +OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:12936 semapv:UnspecifiedMatching +OMIM:604084 ZBTB17 skos:exactMatch hgnc.symbol:ZBTB17 semapv:UnspecifiedMatching OMIM:604084 ZBTB17 skos:exactMatch ncbigene:7709 semapv:UnspecifiedMatching -OMIM:604085 ZNF154 skos:exactMatch hgnc:ZNF154 semapv:UnspecifiedMatching +OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:12939 semapv:UnspecifiedMatching +OMIM:604085 ZNF154 skos:exactMatch hgnc.symbol:ZNF154 semapv:UnspecifiedMatching OMIM:604085 ZNF154 skos:exactMatch ncbigene:7710 semapv:UnspecifiedMatching -OMIM:604086 ZNF155 skos:exactMatch hgnc:ZNF155 semapv:UnspecifiedMatching +OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:12940 semapv:UnspecifiedMatching +OMIM:604086 ZNF155 skos:exactMatch hgnc.symbol:ZNF155 semapv:UnspecifiedMatching OMIM:604086 ZNF155 skos:exactMatch ncbigene:7711 semapv:UnspecifiedMatching -OMIM:604087 CYP46A1 skos:exactMatch hgnc:CYP46A1 semapv:UnspecifiedMatching +OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:2641 semapv:UnspecifiedMatching +OMIM:604087 CYP46A1 skos:exactMatch hgnc.symbol:CYP46A1 semapv:UnspecifiedMatching OMIM:604087 CYP46A1 skos:exactMatch ncbigene:10858 semapv:UnspecifiedMatching -OMIM:604088 PPP1R17 skos:exactMatch hgnc:PPP1R17 semapv:UnspecifiedMatching +OMIM:604088 PPP1R17 skos:exactMatch hgnc.symbol:16973 semapv:UnspecifiedMatching +OMIM:604088 PPP1R17 skos:exactMatch hgnc.symbol:PPP1R17 semapv:UnspecifiedMatching OMIM:604088 PPP1R17 skos:exactMatch ncbigene:10842 semapv:UnspecifiedMatching -OMIM:604089 HCST skos:exactMatch hgnc:HCST semapv:UnspecifiedMatching +OMIM:604089 HCST skos:exactMatch hgnc.symbol:16977 semapv:UnspecifiedMatching +OMIM:604089 HCST skos:exactMatch hgnc.symbol:HCST semapv:UnspecifiedMatching OMIM:604089 HCST skos:exactMatch ncbigene:10870 semapv:UnspecifiedMatching -OMIM:604090 DLG5 skos:exactMatch hgnc:DLG5 semapv:UnspecifiedMatching +OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:2904 semapv:UnspecifiedMatching +OMIM:604090 DLG5 skos:exactMatch hgnc.symbol:DLG5 semapv:UnspecifiedMatching OMIM:604090 DLG5 skos:exactMatch ncbigene:9231 semapv:UnspecifiedMatching -OMIM:604092 TTK skos:exactMatch hgnc:TTK semapv:UnspecifiedMatching +OMIM:604092 TTK skos:exactMatch hgnc.symbol:12401 semapv:UnspecifiedMatching +OMIM:604092 TTK skos:exactMatch hgnc.symbol:TTK semapv:UnspecifiedMatching OMIM:604092 TTK skos:exactMatch ncbigene:7272 semapv:UnspecifiedMatching -OMIM:604094 MAD2L2 skos:exactMatch hgnc:MAD2L2 semapv:UnspecifiedMatching +OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:6764 semapv:UnspecifiedMatching +OMIM:604094 MAD2L2 skos:exactMatch hgnc.symbol:MAD2L2 semapv:UnspecifiedMatching OMIM:604094 MAD2L2 skos:exactMatch ncbigene:10459 semapv:UnspecifiedMatching -OMIM:604095 EDAR skos:exactMatch hgnc:EDAR semapv:UnspecifiedMatching +OMIM:604095 EDAR skos:exactMatch hgnc.symbol:2895 semapv:UnspecifiedMatching +OMIM:604095 EDAR skos:exactMatch hgnc.symbol:EDAR semapv:UnspecifiedMatching OMIM:604095 EDAR skos:exactMatch ncbigene:10913 semapv:UnspecifiedMatching -OMIM:604096 GRM6 skos:exactMatch hgnc:GRM6 semapv:UnspecifiedMatching +OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:4598 semapv:UnspecifiedMatching +OMIM:604096 GRM6 skos:exactMatch hgnc.symbol:GRM6 semapv:UnspecifiedMatching OMIM:604096 GRM6 skos:exactMatch ncbigene:2916 semapv:UnspecifiedMatching -OMIM:604097 UTS2 skos:exactMatch hgnc:UTS2 semapv:UnspecifiedMatching +OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:12636 semapv:UnspecifiedMatching +OMIM:604097 UTS2 skos:exactMatch hgnc.symbol:UTS2 semapv:UnspecifiedMatching OMIM:604097 UTS2 skos:exactMatch ncbigene:10911 semapv:UnspecifiedMatching -OMIM:604098 SUGT1 skos:exactMatch hgnc:SUGT1 semapv:UnspecifiedMatching +OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:16987 semapv:UnspecifiedMatching +OMIM:604098 SUGT1 skos:exactMatch hgnc.symbol:SUGT1 semapv:UnspecifiedMatching OMIM:604098 SUGT1 skos:exactMatch ncbigene:10910 semapv:UnspecifiedMatching -OMIM:604099 GRM2 skos:exactMatch hgnc:GRM2 semapv:UnspecifiedMatching +OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:4594 semapv:UnspecifiedMatching +OMIM:604099 GRM2 skos:exactMatch hgnc.symbol:GRM2 semapv:UnspecifiedMatching OMIM:604099 GRM2 skos:exactMatch ncbigene:2912 semapv:UnspecifiedMatching -OMIM:604100 GRM4 skos:exactMatch hgnc:GRM4 semapv:UnspecifiedMatching +OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:4596 semapv:UnspecifiedMatching +OMIM:604100 GRM4 skos:exactMatch hgnc.symbol:GRM4 semapv:UnspecifiedMatching OMIM:604100 GRM4 skos:exactMatch ncbigene:2914 semapv:UnspecifiedMatching OMIM:604101 GRM7 skos:exactMatch UMLS:C1415309 semapv:UnspecifiedMatching OMIM:604101 GRM7 skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching -OMIM:604101 GRM7 skos:exactMatch hgnc:GRM7 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:4599 semapv:UnspecifiedMatching +OMIM:604101 GRM7 skos:exactMatch hgnc.symbol:GRM7 semapv:UnspecifiedMatching OMIM:604101 GRM7 skos:exactMatch ncbigene:2917 semapv:UnspecifiedMatching -OMIM:604102 GRM5 skos:exactMatch hgnc:GRM5 semapv:UnspecifiedMatching +OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:4597 semapv:UnspecifiedMatching +OMIM:604102 GRM5 skos:exactMatch hgnc.symbol:GRM5 semapv:UnspecifiedMatching OMIM:604102 GRM5 skos:exactMatch ncbigene:2915 semapv:UnspecifiedMatching -OMIM:604103 MYOT skos:exactMatch hgnc:MYOT semapv:UnspecifiedMatching +OMIM:604103 MYOT skos:exactMatch hgnc.symbol:12399 semapv:UnspecifiedMatching +OMIM:604103 MYOT skos:exactMatch hgnc.symbol:MYOT semapv:UnspecifiedMatching OMIM:604103 MYOT skos:exactMatch ncbigene:9499 semapv:UnspecifiedMatching -OMIM:604104 GMFG skos:exactMatch hgnc:GMFG semapv:UnspecifiedMatching +OMIM:604104 GMFG skos:exactMatch hgnc.symbol:4374 semapv:UnspecifiedMatching +OMIM:604104 GMFG skos:exactMatch hgnc.symbol:GMFG semapv:UnspecifiedMatching OMIM:604104 GMFG skos:exactMatch ncbigene:9535 semapv:UnspecifiedMatching OMIM:604105 SYCP2 skos:exactMatch UMLS:C0403810 semapv:UnspecifiedMatching OMIM:604105 SYCP2 skos:exactMatch UMLS:C1420540 semapv:UnspecifiedMatching -OMIM:604105 SYCP2 skos:exactMatch hgnc:SYCP2 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:11490 semapv:UnspecifiedMatching +OMIM:604105 SYCP2 skos:exactMatch hgnc.symbol:SYCP2 semapv:UnspecifiedMatching OMIM:604105 SYCP2 skos:exactMatch ncbigene:10388 semapv:UnspecifiedMatching OMIM:604106 GPR52 skos:exactMatch UMLS:C1415243 semapv:UnspecifiedMatching -OMIM:604106 GPR52 skos:exactMatch hgnc:GPR52 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:4508 semapv:UnspecifiedMatching +OMIM:604106 GPR52 skos:exactMatch hgnc.symbol:GPR52 semapv:UnspecifiedMatching OMIM:604106 GPR52 skos:exactMatch ncbigene:9293 semapv:UnspecifiedMatching -OMIM:604107 GPR55 skos:exactMatch hgnc:GPR55 semapv:UnspecifiedMatching +OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:4511 semapv:UnspecifiedMatching +OMIM:604107 GPR55 skos:exactMatch hgnc.symbol:GPR55 semapv:UnspecifiedMatching OMIM:604107 GPR55 skos:exactMatch ncbigene:9290 semapv:UnspecifiedMatching -OMIM:604108 MAP7 skos:exactMatch hgnc:MAP7 semapv:UnspecifiedMatching +OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:6869 semapv:UnspecifiedMatching +OMIM:604108 MAP7 skos:exactMatch hgnc.symbol:MAP7 semapv:UnspecifiedMatching OMIM:604108 MAP7 skos:exactMatch ncbigene:9053 semapv:UnspecifiedMatching -OMIM:604109 HHLA1 skos:exactMatch hgnc:HHLA1 semapv:UnspecifiedMatching +OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:4904 semapv:UnspecifiedMatching +OMIM:604109 HHLA1 skos:exactMatch hgnc.symbol:HHLA1 semapv:UnspecifiedMatching OMIM:604109 HHLA1 skos:exactMatch ncbigene:10086 semapv:UnspecifiedMatching -OMIM:604110 ADGRG1 skos:exactMatch hgnc:ADGRG1 semapv:UnspecifiedMatching +OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:4512 semapv:UnspecifiedMatching +OMIM:604110 ADGRG1 skos:exactMatch hgnc.symbol:ADGRG1 semapv:UnspecifiedMatching OMIM:604110 ADGRG1 skos:exactMatch ncbigene:9289 semapv:UnspecifiedMatching -OMIM:604111 KCNAB3 skos:exactMatch hgnc:KCNAB3 semapv:UnspecifiedMatching +OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:6230 semapv:UnspecifiedMatching +OMIM:604111 KCNAB3 skos:exactMatch hgnc.symbol:KCNAB3 semapv:UnspecifiedMatching OMIM:604111 KCNAB3 skos:exactMatch ncbigene:9196 semapv:UnspecifiedMatching -OMIM:604112 SCEL skos:exactMatch hgnc:SCEL semapv:UnspecifiedMatching +OMIM:604112 SCEL skos:exactMatch hgnc.symbol:10573 semapv:UnspecifiedMatching +OMIM:604112 SCEL skos:exactMatch hgnc.symbol:SCEL semapv:UnspecifiedMatching OMIM:604112 SCEL skos:exactMatch ncbigene:8796 semapv:UnspecifiedMatching OMIM:604113 IL18BP skos:exactMatch UMLS:C1416392 semapv:UnspecifiedMatching OMIM:604113 IL18BP skos:exactMatch UMLS:C5231406 semapv:UnspecifiedMatching -OMIM:604113 IL18BP skos:exactMatch hgnc:IL18BP semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:5987 semapv:UnspecifiedMatching +OMIM:604113 IL18BP skos:exactMatch hgnc.symbol:IL18BP semapv:UnspecifiedMatching OMIM:604113 IL18BP skos:exactMatch ncbigene:10068 semapv:UnspecifiedMatching -OMIM:604114 PLCB2 skos:exactMatch hgnc:PLCB2 semapv:UnspecifiedMatching +OMIM:604114 PLCB2 skos:exactMatch hgnc.symbol:9055 semapv:UnspecifiedMatching +OMIM:604114 PLCB2 skos:exactMatch hgnc.symbol:PLCB2 semapv:UnspecifiedMatching OMIM:604114 PLCB2 skos:exactMatch ncbigene:5330 semapv:UnspecifiedMatching -OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc:KCNQ1OT1 semapv:UnspecifiedMatching +OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc.symbol:6295 semapv:UnspecifiedMatching +OMIM:604115 KCNQ1OT1 skos:exactMatch hgnc.symbol:KCNQ1OT1 semapv:UnspecifiedMatching OMIM:604115 KCNQ1OT1 skos:exactMatch ncbigene:10984 semapv:UnspecifiedMatching +OMIM:604116 cone-rod dystrophy 3 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching OMIM:604116 cone-rod dystrophy 3 skos:exactMatch UMLS:C1858806 semapv:UnspecifiedMatching -OMIM:604116 cone-rod dystrophy 3 skos:exactMatch orphanet.ordo:1872 semapv:UnspecifiedMatching +OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch Orphanet:79395 semapv:UnspecifiedMatching OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch UMLS:C1858805 semapv:UnspecifiedMatching -OMIM:604117 vohwinkel syndrome, variant form skos:exactMatch orphanet.ordo:79395 semapv:UnspecifiedMatching -OMIM:604118 RASAL1 skos:exactMatch hgnc:RASAL1 semapv:UnspecifiedMatching +OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:9873 semapv:UnspecifiedMatching +OMIM:604118 RASAL1 skos:exactMatch hgnc.symbol:RASAL1 semapv:UnspecifiedMatching OMIM:604118 RASAL1 skos:exactMatch ncbigene:8437 semapv:UnspecifiedMatching -OMIM:604119 SLC12A4 skos:exactMatch hgnc:SLC12A4 semapv:UnspecifiedMatching +OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:10913 semapv:UnspecifiedMatching +OMIM:604119 SLC12A4 skos:exactMatch hgnc.symbol:SLC12A4 semapv:UnspecifiedMatching OMIM:604119 SLC12A4 skos:exactMatch ncbigene:6560 semapv:UnspecifiedMatching OMIM:604122 PIGB skos:exactMatch UMLS:C1418560 semapv:UnspecifiedMatching OMIM:604122 PIGB skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching -OMIM:604122 PIGB skos:exactMatch hgnc:PIGB semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch hgnc.symbol:8959 semapv:UnspecifiedMatching +OMIM:604122 PIGB skos:exactMatch hgnc.symbol:PIGB semapv:UnspecifiedMatching OMIM:604122 PIGB skos:exactMatch ncbigene:9488 semapv:UnspecifiedMatching -OMIM:604123 RNASEH1 skos:exactMatch hgnc:RNASEH1 semapv:UnspecifiedMatching +OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:18466 semapv:UnspecifiedMatching +OMIM:604123 RNASEH1 skos:exactMatch hgnc.symbol:RNASEH1 semapv:UnspecifiedMatching OMIM:604123 RNASEH1 skos:exactMatch ncbigene:246243 semapv:UnspecifiedMatching -OMIM:604124 RBBP8 skos:exactMatch hgnc:RBBP8 semapv:UnspecifiedMatching +OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:9891 semapv:UnspecifiedMatching +OMIM:604124 RBBP8 skos:exactMatch hgnc.symbol:RBBP8 semapv:UnspecifiedMatching OMIM:604124 RBBP8 skos:exactMatch ncbigene:5932 semapv:UnspecifiedMatching -OMIM:604125 SULT2B1 skos:exactMatch hgnc:SULT2B1 semapv:UnspecifiedMatching +OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:11459 semapv:UnspecifiedMatching +OMIM:604125 SULT2B1 skos:exactMatch hgnc.symbol:SULT2B1 semapv:UnspecifiedMatching OMIM:604125 SULT2B1 skos:exactMatch ncbigene:6820 semapv:UnspecifiedMatching OMIM:604126 SVIL skos:exactMatch UMLS:C1420533 semapv:UnspecifiedMatching OMIM:604126 SVIL skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching -OMIM:604126 SVIL skos:exactMatch hgnc:SVIL semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch hgnc.symbol:11480 semapv:UnspecifiedMatching +OMIM:604126 SVIL skos:exactMatch hgnc.symbol:SVIL semapv:UnspecifiedMatching OMIM:604126 SVIL skos:exactMatch ncbigene:6840 semapv:UnspecifiedMatching OMIM:604127 TBX15 skos:exactMatch UMLS:C1420605 semapv:UnspecifiedMatching OMIM:604127 TBX15 skos:exactMatch UMLS:C1850040 semapv:UnspecifiedMatching -OMIM:604127 TBX15 skos:exactMatch hgnc:TBX15 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:11594 semapv:UnspecifiedMatching +OMIM:604127 TBX15 skos:exactMatch hgnc.symbol:TBX15 semapv:UnspecifiedMatching OMIM:604127 TBX15 skos:exactMatch ncbigene:6913 semapv:UnspecifiedMatching -OMIM:604128 TCEA3 skos:exactMatch hgnc:TCEA3 semapv:UnspecifiedMatching +OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:11615 semapv:UnspecifiedMatching +OMIM:604128 TCEA3 skos:exactMatch hgnc.symbol:TCEA3 semapv:UnspecifiedMatching OMIM:604128 TCEA3 skos:exactMatch ncbigene:6920 semapv:UnspecifiedMatching -OMIM:604130 UTF1 skos:exactMatch hgnc:UTF1 semapv:UnspecifiedMatching +OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:12634 semapv:UnspecifiedMatching +OMIM:604130 UTF1 skos:exactMatch hgnc.symbol:UTF1 semapv:UnspecifiedMatching OMIM:604130 UTF1 skos:exactMatch ncbigene:8433 semapv:UnspecifiedMatching OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1268935 semapv:UnspecifiedMatching OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C1413036 semapv:UnspecifiedMatching OMIM:604134 ADAMTS13 skos:exactMatch UMLS:C5394574 semapv:UnspecifiedMatching -OMIM:604134 ADAMTS13 skos:exactMatch hgnc:ADAMTS13 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:1366 semapv:UnspecifiedMatching +OMIM:604134 ADAMTS13 skos:exactMatch hgnc.symbol:ADAMTS13 semapv:UnspecifiedMatching OMIM:604134 ADAMTS13 skos:exactMatch ncbigene:11093 semapv:UnspecifiedMatching -OMIM:604135 NFE2L3 skos:exactMatch hgnc:NFE2L3 semapv:UnspecifiedMatching +OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:7783 semapv:UnspecifiedMatching +OMIM:604135 NFE2L3 skos:exactMatch hgnc.symbol:NFE2L3 semapv:UnspecifiedMatching OMIM:604135 NFE2L3 skos:exactMatch ncbigene:9603 semapv:UnspecifiedMatching -OMIM:604136 IL24 skos:exactMatch hgnc:IL24 semapv:UnspecifiedMatching +OMIM:604136 IL24 skos:exactMatch hgnc.symbol:11346 semapv:UnspecifiedMatching +OMIM:604136 IL24 skos:exactMatch hgnc.symbol:IL24 semapv:UnspecifiedMatching OMIM:604136 IL24 skos:exactMatch ncbigene:11009 semapv:UnspecifiedMatching -OMIM:604138 GPRC5A skos:exactMatch hgnc:GPRC5A semapv:UnspecifiedMatching +OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:9836 semapv:UnspecifiedMatching +OMIM:604138 GPRC5A skos:exactMatch hgnc.symbol:GPRC5A semapv:UnspecifiedMatching OMIM:604138 GPRC5A skos:exactMatch ncbigene:9052 semapv:UnspecifiedMatching -OMIM:604139 DNAJB2 skos:exactMatch hgnc:DNAJB2 semapv:UnspecifiedMatching +OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:5228 semapv:UnspecifiedMatching +OMIM:604139 DNAJB2 skos:exactMatch hgnc.symbol:DNAJB2 semapv:UnspecifiedMatching OMIM:604139 DNAJB2 skos:exactMatch ncbigene:3300 semapv:UnspecifiedMatching -OMIM:604140 DIDO1 skos:exactMatch hgnc:DIDO1 semapv:UnspecifiedMatching +OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:2680 semapv:UnspecifiedMatching +OMIM:604140 DIDO1 skos:exactMatch hgnc.symbol:DIDO1 semapv:UnspecifiedMatching OMIM:604140 DIDO1 skos:exactMatch ncbigene:11083 semapv:UnspecifiedMatching -OMIM:604141 ARFGEF1 skos:exactMatch hgnc:ARFGEF1 semapv:UnspecifiedMatching +OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:15772 semapv:UnspecifiedMatching +OMIM:604141 ARFGEF1 skos:exactMatch hgnc.symbol:ARFGEF1 semapv:UnspecifiedMatching OMIM:604141 ARFGEF1 skos:exactMatch ncbigene:10565 semapv:UnspecifiedMatching -OMIM:604142 TYROBP skos:exactMatch hgnc:TYROBP semapv:UnspecifiedMatching +OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:12449 semapv:UnspecifiedMatching +OMIM:604142 TYROBP skos:exactMatch hgnc.symbol:TYROBP semapv:UnspecifiedMatching OMIM:604142 TYROBP skos:exactMatch ncbigene:7305 semapv:UnspecifiedMatching OMIM:604143 ESPL1 skos:exactMatch UMLS:C1424597 semapv:UnspecifiedMatching -OMIM:604143 ESPL1 skos:exactMatch hgnc:ESPL1 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:16856 semapv:UnspecifiedMatching +OMIM:604143 ESPL1 skos:exactMatch hgnc.symbol:ESPL1 semapv:UnspecifiedMatching OMIM:604143 ESPL1 skos:exactMatch ncbigene:9700 semapv:UnspecifiedMatching OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C0010691 semapv:UnspecifiedMatching OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch UMLS:C1420228 semapv:UnspecifiedMatching -OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc:SLC7A9 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:11067 semapv:UnspecifiedMatching +OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch hgnc.symbol:SLC7A9 semapv:UnspecifiedMatching OMIM:604144 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 skos:exactMatch ncbigene:11136 semapv:UnspecifiedMatching -OMIM:604146 SYT7 skos:exactMatch hgnc:SYT7 semapv:UnspecifiedMatching +OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:11514 semapv:UnspecifiedMatching +OMIM:604146 SYT7 skos:exactMatch hgnc.symbol:SYT7 semapv:UnspecifiedMatching OMIM:604146 SYT7 skos:exactMatch ncbigene:9066 semapv:UnspecifiedMatching -OMIM:604147 PTTG1 skos:exactMatch hgnc:PTTG1 semapv:UnspecifiedMatching +OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:9690 semapv:UnspecifiedMatching +OMIM:604147 PTTG1 skos:exactMatch hgnc.symbol:PTTG1 semapv:UnspecifiedMatching OMIM:604147 PTTG1 skos:exactMatch ncbigene:9232 semapv:UnspecifiedMatching -OMIM:604148 SLC13A2 skos:exactMatch hgnc:SLC13A2 semapv:UnspecifiedMatching +OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:10917 semapv:UnspecifiedMatching +OMIM:604148 SLC13A2 skos:exactMatch hgnc.symbol:SLC13A2 semapv:UnspecifiedMatching OMIM:604148 SLC13A2 skos:exactMatch ncbigene:9058 semapv:UnspecifiedMatching -OMIM:604149 SGCE skos:exactMatch hgnc:SGCE semapv:UnspecifiedMatching +OMIM:604149 SGCE skos:exactMatch hgnc.symbol:10808 semapv:UnspecifiedMatching +OMIM:604149 SGCE skos:exactMatch hgnc.symbol:SGCE semapv:UnspecifiedMatching OMIM:604149 SGCE skos:exactMatch ncbigene:8910 semapv:UnspecifiedMatching -OMIM:604150 POLR2J skos:exactMatch hgnc:POLR2J semapv:UnspecifiedMatching +OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:9197 semapv:UnspecifiedMatching +OMIM:604150 POLR2J skos:exactMatch hgnc.symbol:POLR2J semapv:UnspecifiedMatching OMIM:604150 POLR2J skos:exactMatch ncbigene:5439 semapv:UnspecifiedMatching -OMIM:604151 UBE2E3 skos:exactMatch hgnc:UBE2E3 semapv:UnspecifiedMatching +OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:12479 semapv:UnspecifiedMatching +OMIM:604151 UBE2E3 skos:exactMatch hgnc.symbol:UBE2E3 semapv:UnspecifiedMatching OMIM:604151 UBE2E3 skos:exactMatch ncbigene:10477 semapv:UnspecifiedMatching -OMIM:604152 OAZ2 skos:exactMatch hgnc:OAZ2 semapv:UnspecifiedMatching +OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:8096 semapv:UnspecifiedMatching +OMIM:604152 OAZ2 skos:exactMatch hgnc.symbol:OAZ2 semapv:UnspecifiedMatching OMIM:604152 OAZ2 skos:exactMatch ncbigene:4947 semapv:UnspecifiedMatching -OMIM:604153 NMUR1 skos:exactMatch hgnc:NMUR1 semapv:UnspecifiedMatching +OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:4518 semapv:UnspecifiedMatching +OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:NMUR1 semapv:UnspecifiedMatching OMIM:604153 NMUR1 skos:exactMatch ncbigene:10316 semapv:UnspecifiedMatching -OMIM:604155 LANCL1 skos:exactMatch hgnc:LANCL1 semapv:UnspecifiedMatching +OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:6508 semapv:UnspecifiedMatching +OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:LANCL1 semapv:UnspecifiedMatching OMIM:604155 LANCL1 skos:exactMatch ncbigene:10314 semapv:UnspecifiedMatching -OMIM:604156 SFRP1 skos:exactMatch hgnc:SFRP1 semapv:UnspecifiedMatching +OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:10776 semapv:UnspecifiedMatching +OMIM:604156 SFRP1 skos:exactMatch hgnc.symbol:SFRP1 semapv:UnspecifiedMatching OMIM:604156 SFRP1 skos:exactMatch ncbigene:6422 semapv:UnspecifiedMatching -OMIM:604157 SFRP2 skos:exactMatch hgnc:SFRP2 semapv:UnspecifiedMatching +OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:10777 semapv:UnspecifiedMatching +OMIM:604157 SFRP2 skos:exactMatch hgnc.symbol:SFRP2 semapv:UnspecifiedMatching OMIM:604157 SFRP2 skos:exactMatch ncbigene:6423 semapv:UnspecifiedMatching -OMIM:604158 SFRP5 skos:exactMatch hgnc:SFRP5 semapv:UnspecifiedMatching +OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:10779 semapv:UnspecifiedMatching +OMIM:604158 SFRP5 skos:exactMatch hgnc.symbol:SFRP5 semapv:UnspecifiedMatching OMIM:604158 SFRP5 skos:exactMatch ncbigene:6425 semapv:UnspecifiedMatching -OMIM:604159 SLC6A5 skos:exactMatch hgnc:SLC6A5 semapv:UnspecifiedMatching +OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:11051 semapv:UnspecifiedMatching +OMIM:604159 SLC6A5 skos:exactMatch hgnc.symbol:SLC6A5 semapv:UnspecifiedMatching OMIM:604159 SLC6A5 skos:exactMatch ncbigene:9152 semapv:UnspecifiedMatching -OMIM:604160 ITGB8 skos:exactMatch hgnc:ITGB8 semapv:UnspecifiedMatching +OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:6163 semapv:UnspecifiedMatching +OMIM:604160 ITGB8 skos:exactMatch hgnc.symbol:ITGB8 semapv:UnspecifiedMatching OMIM:604160 ITGB8 skos:exactMatch ncbigene:3696 semapv:UnspecifiedMatching -OMIM:604161 KISS1R skos:exactMatch hgnc:KISS1R semapv:UnspecifiedMatching +OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:4510 semapv:UnspecifiedMatching +OMIM:604161 KISS1R skos:exactMatch hgnc.symbol:KISS1R semapv:UnspecifiedMatching OMIM:604161 KISS1R skos:exactMatch ncbigene:84634 semapv:UnspecifiedMatching -OMIM:604163 RPL3 skos:exactMatch hgnc:RPL3 semapv:UnspecifiedMatching +OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:10332 semapv:UnspecifiedMatching +OMIM:604163 RPL3 skos:exactMatch hgnc.symbol:RPL3 semapv:UnspecifiedMatching OMIM:604163 RPL3 skos:exactMatch ncbigene:6122 semapv:UnspecifiedMatching -OMIM:604164 ONECUT1 skos:exactMatch hgnc:ONECUT1 semapv:UnspecifiedMatching +OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:8138 semapv:UnspecifiedMatching +OMIM:604164 ONECUT1 skos:exactMatch hgnc.symbol:ONECUT1 semapv:UnspecifiedMatching OMIM:604164 ONECUT1 skos:exactMatch ncbigene:3175 semapv:UnspecifiedMatching -OMIM:604165 SLC25A11 skos:exactMatch hgnc:SLC25A11 semapv:UnspecifiedMatching +OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:10981 semapv:UnspecifiedMatching +OMIM:604165 SLC25A11 skos:exactMatch hgnc.symbol:SLC25A11 semapv:UnspecifiedMatching OMIM:604165 SLC25A11 skos:exactMatch ncbigene:8402 semapv:UnspecifiedMatching -OMIM:604166 RPL7 skos:exactMatch hgnc:RPL7 semapv:UnspecifiedMatching +OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:10363 semapv:UnspecifiedMatching +OMIM:604166 RPL7 skos:exactMatch hgnc.symbol:RPL7 semapv:UnspecifiedMatching OMIM:604166 RPL7 skos:exactMatch ncbigene:6129 semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch UMLS:C1422163 semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch UMLS:C3809686 semapv:UnspecifiedMatching -OMIM:604167 CTCF skos:exactMatch hgnc:CTCF semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch hgnc.symbol:13723 semapv:UnspecifiedMatching +OMIM:604167 CTCF skos:exactMatch hgnc.symbol:CTCF semapv:UnspecifiedMatching OMIM:604167 CTCF skos:exactMatch ncbigene:10664 semapv:UnspecifiedMatching -OMIM:604170 PLSCR1 skos:exactMatch hgnc:PLSCR1 semapv:UnspecifiedMatching +OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:9092 semapv:UnspecifiedMatching +OMIM:604170 PLSCR1 skos:exactMatch hgnc.symbol:PLSCR1 semapv:UnspecifiedMatching OMIM:604170 PLSCR1 skos:exactMatch ncbigene:5359 semapv:UnspecifiedMatching -OMIM:604171 ALYREF skos:exactMatch hgnc:ALYREF semapv:UnspecifiedMatching +OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:19071 semapv:UnspecifiedMatching +OMIM:604171 ALYREF skos:exactMatch hgnc.symbol:ALYREF semapv:UnspecifiedMatching OMIM:604171 ALYREF skos:exactMatch ncbigene:10189 semapv:UnspecifiedMatching +OMIM:604173 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 semapv:UnspecifiedMatching OMIM:604173 poikiloderma with neutropenia skos:exactMatch UMLS:C1858723 semapv:UnspecifiedMatching -OMIM:604173 poikiloderma with neutropenia skos:exactMatch orphanet.ordo:221046 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch UMLS:C1419632 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching -OMIM:604174 RPL15 skos:exactMatch hgnc:RPL15 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:10306 semapv:UnspecifiedMatching +OMIM:604174 RPL15 skos:exactMatch hgnc.symbol:RPL15 semapv:UnspecifiedMatching OMIM:604174 RPL15 skos:exactMatch ncbigene:6138 semapv:UnspecifiedMatching -OMIM:604175 RPL11 skos:exactMatch hgnc:RPL11 semapv:UnspecifiedMatching +OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:10301 semapv:UnspecifiedMatching +OMIM:604175 RPL11 skos:exactMatch hgnc.symbol:RPL11 semapv:UnspecifiedMatching OMIM:604175 RPL11 skos:exactMatch ncbigene:6135 semapv:UnspecifiedMatching -OMIM:604176 SOCS3 skos:exactMatch hgnc:SOCS3 semapv:UnspecifiedMatching +OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:19391 semapv:UnspecifiedMatching +OMIM:604176 SOCS3 skos:exactMatch hgnc.symbol:SOCS3 semapv:UnspecifiedMatching OMIM:604176 SOCS3 skos:exactMatch ncbigene:9021 semapv:UnspecifiedMatching -OMIM:604177 RPL8 skos:exactMatch hgnc:RPL8 semapv:UnspecifiedMatching +OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:10368 semapv:UnspecifiedMatching +OMIM:604177 RPL8 skos:exactMatch hgnc.symbol:RPL8 semapv:UnspecifiedMatching OMIM:604177 RPL8 skos:exactMatch ncbigene:6132 semapv:UnspecifiedMatching -OMIM:604178 RPL18A skos:exactMatch hgnc:RPL18A semapv:UnspecifiedMatching +OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:10311 semapv:UnspecifiedMatching +OMIM:604178 RPL18A skos:exactMatch hgnc.symbol:RPL18A semapv:UnspecifiedMatching OMIM:604178 RPL18A skos:exactMatch ncbigene:6142 semapv:UnspecifiedMatching -OMIM:604179 RPL18 skos:exactMatch hgnc:RPL18 semapv:UnspecifiedMatching +OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:10310 semapv:UnspecifiedMatching +OMIM:604179 RPL18 skos:exactMatch hgnc.symbol:RPL18 semapv:UnspecifiedMatching OMIM:604179 RPL18 skos:exactMatch ncbigene:6141 semapv:UnspecifiedMatching -OMIM:604180 RPL24 skos:exactMatch hgnc:RPL24 semapv:UnspecifiedMatching +OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:10325 semapv:UnspecifiedMatching +OMIM:604180 RPL24 skos:exactMatch hgnc.symbol:RPL24 semapv:UnspecifiedMatching OMIM:604180 RPL24 skos:exactMatch ncbigene:6152 semapv:UnspecifiedMatching -OMIM:604181 RPL37 skos:exactMatch hgnc:RPL37 semapv:UnspecifiedMatching +OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:10347 semapv:UnspecifiedMatching +OMIM:604181 RPL37 skos:exactMatch hgnc.symbol:RPL37 semapv:UnspecifiedMatching OMIM:604181 RPL37 skos:exactMatch ncbigene:6167 semapv:UnspecifiedMatching -OMIM:604182 RPL38 skos:exactMatch hgnc:RPL38 semapv:UnspecifiedMatching +OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:10349 semapv:UnspecifiedMatching +OMIM:604182 RPL38 skos:exactMatch hgnc.symbol:RPL38 semapv:UnspecifiedMatching OMIM:604182 RPL38 skos:exactMatch ncbigene:6169 semapv:UnspecifiedMatching -OMIM:604184 PUNC skos:exactMatch hgnc:IGDCC3 semapv:UnspecifiedMatching +OMIM:604184 PUNC skos:exactMatch hgnc.symbol:9700 semapv:UnspecifiedMatching +OMIM:604184 PUNC skos:exactMatch hgnc.symbol:IGDCC3 semapv:UnspecifiedMatching OMIM:604184 PUNC skos:exactMatch ncbigene:9543 semapv:UnspecifiedMatching -OMIM:604186 CXCL14 skos:exactMatch hgnc:CXCL14 semapv:UnspecifiedMatching +OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:10640 semapv:UnspecifiedMatching +OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:CXCL14 semapv:UnspecifiedMatching OMIM:604186 CXCL14 skos:exactMatch ncbigene:9547 semapv:UnspecifiedMatching -OMIM:604188 SELENBP1 skos:exactMatch hgnc:SELENBP1 semapv:UnspecifiedMatching +OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:10719 semapv:UnspecifiedMatching +OMIM:604188 SELENBP1 skos:exactMatch hgnc.symbol:SELENBP1 semapv:UnspecifiedMatching OMIM:604188 SELENBP1 skos:exactMatch ncbigene:8991 semapv:UnspecifiedMatching -OMIM:604189 DNAJC4 skos:exactMatch hgnc:DNAJC4 semapv:UnspecifiedMatching +OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:5271 semapv:UnspecifiedMatching +OMIM:604189 DNAJC4 skos:exactMatch hgnc.symbol:DNAJC4 semapv:UnspecifiedMatching OMIM:604189 DNAJC4 skos:exactMatch ncbigene:3338 semapv:UnspecifiedMatching -OMIM:604190 SLC22A4 skos:exactMatch hgnc:SLC22A4 semapv:UnspecifiedMatching +OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:10968 semapv:UnspecifiedMatching +OMIM:604190 SLC22A4 skos:exactMatch hgnc.symbol:SLC22A4 semapv:UnspecifiedMatching OMIM:604190 SLC22A4 skos:exactMatch ncbigene:6583 semapv:UnspecifiedMatching -OMIM:604191 ZNF263 skos:exactMatch hgnc:ZNF263 semapv:UnspecifiedMatching +OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:13056 semapv:UnspecifiedMatching +OMIM:604191 ZNF263 skos:exactMatch hgnc.symbol:ZNF263 semapv:UnspecifiedMatching OMIM:604191 ZNF263 skos:exactMatch ncbigene:10127 semapv:UnspecifiedMatching -OMIM:604193 SLC27A3 skos:exactMatch hgnc:SLC27A3 semapv:UnspecifiedMatching +OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:10997 semapv:UnspecifiedMatching +OMIM:604193 SLC27A3 skos:exactMatch hgnc.symbol:SLC27A3 semapv:UnspecifiedMatching OMIM:604193 SLC27A3 skos:exactMatch ncbigene:11000 semapv:UnspecifiedMatching -OMIM:604194 SLC27A4 skos:exactMatch hgnc:SLC27A4 semapv:UnspecifiedMatching +OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:10998 semapv:UnspecifiedMatching +OMIM:604194 SLC27A4 skos:exactMatch hgnc.symbol:SLC27A4 semapv:UnspecifiedMatching OMIM:604194 SLC27A4 skos:exactMatch ncbigene:10999 semapv:UnspecifiedMatching -OMIM:604196 SLC27A6 skos:exactMatch hgnc:SLC27A6 semapv:UnspecifiedMatching +OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:11000 semapv:UnspecifiedMatching +OMIM:604196 SLC27A6 skos:exactMatch hgnc.symbol:SLC27A6 semapv:UnspecifiedMatching OMIM:604196 SLC27A6 skos:exactMatch ncbigene:28965 semapv:UnspecifiedMatching -OMIM:604197 MTHFS skos:exactMatch hgnc:MTHFS semapv:UnspecifiedMatching +OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:7437 semapv:UnspecifiedMatching +OMIM:604197 MTHFS skos:exactMatch hgnc.symbol:MTHFS semapv:UnspecifiedMatching OMIM:604197 MTHFS skos:exactMatch ncbigene:10588 semapv:UnspecifiedMatching -OMIM:604198 RAB11B skos:exactMatch hgnc:RAB11B semapv:UnspecifiedMatching +OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:9761 semapv:UnspecifiedMatching +OMIM:604198 RAB11B skos:exactMatch hgnc.symbol:RAB11B semapv:UnspecifiedMatching OMIM:604198 RAB11B skos:exactMatch ncbigene:9230 semapv:UnspecifiedMatching -OMIM:604199 RAB35 skos:exactMatch hgnc:RAB35 semapv:UnspecifiedMatching +OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:9774 semapv:UnspecifiedMatching +OMIM:604199 RAB35 skos:exactMatch hgnc.symbol:RAB35 semapv:UnspecifiedMatching OMIM:604199 RAB35 skos:exactMatch ncbigene:11021 semapv:UnspecifiedMatching -OMIM:604200 SIGLEC5 skos:exactMatch hgnc:SIGLEC5 semapv:UnspecifiedMatching +OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:10874 semapv:UnspecifiedMatching +OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:SIGLEC5 semapv:UnspecifiedMatching OMIM:604200 SIGLEC5 skos:exactMatch ncbigene:8778 semapv:UnspecifiedMatching -OMIM:604202 SNAP29 skos:exactMatch hgnc:SNAP29 semapv:UnspecifiedMatching +OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:11133 semapv:UnspecifiedMatching +OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:SNAP29 semapv:UnspecifiedMatching OMIM:604202 SNAP29 skos:exactMatch ncbigene:9342 semapv:UnspecifiedMatching -OMIM:604203 STX8 skos:exactMatch hgnc:STX8 semapv:UnspecifiedMatching +OMIM:604203 STX8 skos:exactMatch hgnc.symbol:11443 semapv:UnspecifiedMatching +OMIM:604203 STX8 skos:exactMatch hgnc.symbol:STX8 semapv:UnspecifiedMatching OMIM:604203 STX8 skos:exactMatch ncbigene:9482 semapv:UnspecifiedMatching -OMIM:604204 STX17 skos:exactMatch hgnc:STX17 semapv:UnspecifiedMatching +OMIM:604204 STX17 skos:exactMatch hgnc.symbol:11432 semapv:UnspecifiedMatching +OMIM:604204 STX17 skos:exactMatch hgnc.symbol:STX17 semapv:UnspecifiedMatching OMIM:604204 STX17 skos:exactMatch ncbigene:55014 semapv:UnspecifiedMatching OMIM:604205 CPNE1 skos:exactMatch UMLS:C1413675 semapv:UnspecifiedMatching -OMIM:604205 CPNE1 skos:exactMatch hgnc:CPNE1 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:2314 semapv:UnspecifiedMatching +OMIM:604205 CPNE1 skos:exactMatch hgnc.symbol:CPNE1 semapv:UnspecifiedMatching OMIM:604205 CPNE1 skos:exactMatch ncbigene:8904 semapv:UnspecifiedMatching OMIM:604206 CPNE2 skos:exactMatch UMLS:C1413676 semapv:UnspecifiedMatching -OMIM:604206 CPNE2 skos:exactMatch hgnc:CPNE2 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:2315 semapv:UnspecifiedMatching +OMIM:604206 CPNE2 skos:exactMatch hgnc.symbol:CPNE2 semapv:UnspecifiedMatching OMIM:604206 CPNE2 skos:exactMatch ncbigene:221184 semapv:UnspecifiedMatching OMIM:604207 CPNE3 skos:exactMatch UMLS:C1413677 semapv:UnspecifiedMatching -OMIM:604207 CPNE3 skos:exactMatch hgnc:CPNE3 semapv:UnspecifiedMatching +OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:2316 semapv:UnspecifiedMatching +OMIM:604207 CPNE3 skos:exactMatch hgnc.symbol:CPNE3 semapv:UnspecifiedMatching OMIM:604207 CPNE3 skos:exactMatch ncbigene:8895 semapv:UnspecifiedMatching OMIM:604208 CPNE4 skos:exactMatch UMLS:C1413678 semapv:UnspecifiedMatching -OMIM:604208 CPNE4 skos:exactMatch hgnc:CPNE4 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:2317 semapv:UnspecifiedMatching +OMIM:604208 CPNE4 skos:exactMatch hgnc.symbol:CPNE4 semapv:UnspecifiedMatching OMIM:604208 CPNE4 skos:exactMatch ncbigene:131034 semapv:UnspecifiedMatching OMIM:604209 CPNE5 skos:exactMatch UMLS:C1413679 semapv:UnspecifiedMatching -OMIM:604209 CPNE5 skos:exactMatch hgnc:CPNE5 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:2318 semapv:UnspecifiedMatching +OMIM:604209 CPNE5 skos:exactMatch hgnc.symbol:CPNE5 semapv:UnspecifiedMatching OMIM:604209 CPNE5 skos:exactMatch ncbigene:57699 semapv:UnspecifiedMatching -OMIM:604210 CRB1 skos:exactMatch hgnc:CRB1 semapv:UnspecifiedMatching +OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:2343 semapv:UnspecifiedMatching +OMIM:604210 CRB1 skos:exactMatch hgnc.symbol:CRB1 semapv:UnspecifiedMatching OMIM:604210 CRB1 skos:exactMatch ncbigene:23418 semapv:UnspecifiedMatching -OMIM:604212 PARN skos:exactMatch hgnc:PARN semapv:UnspecifiedMatching +OMIM:604212 PARN skos:exactMatch hgnc.symbol:8609 semapv:UnspecifiedMatching +OMIM:604212 PARN skos:exactMatch hgnc.symbol:PARN semapv:UnspecifiedMatching OMIM:604212 PARN skos:exactMatch ncbigene:5073 semapv:UnspecifiedMatching -OMIM:604214 KRIT1 skos:exactMatch hgnc:KRIT1 semapv:UnspecifiedMatching +OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:1573 semapv:UnspecifiedMatching +OMIM:604214 KRIT1 skos:exactMatch hgnc.symbol:KRIT1 semapv:UnspecifiedMatching OMIM:604214 KRIT1 skos:exactMatch ncbigene:889 semapv:UnspecifiedMatching -OMIM:604215 ING2 skos:exactMatch hgnc:ING2 semapv:UnspecifiedMatching +OMIM:604215 ING2 skos:exactMatch hgnc.symbol:6063 semapv:UnspecifiedMatching +OMIM:604215 ING2 skos:exactMatch hgnc.symbol:ING2 semapv:UnspecifiedMatching OMIM:604215 ING2 skos:exactMatch ncbigene:3622 semapv:UnspecifiedMatching -OMIM:604216 SLC17A4 skos:exactMatch hgnc:SLC17A4 semapv:UnspecifiedMatching +OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:10932 semapv:UnspecifiedMatching +OMIM:604216 SLC17A4 skos:exactMatch hgnc.symbol:SLC17A4 semapv:UnspecifiedMatching OMIM:604216 SLC17A4 skos:exactMatch ncbigene:10050 semapv:UnspecifiedMatching -OMIM:604217 SLC34A2 skos:exactMatch hgnc:SLC34A2 semapv:UnspecifiedMatching +OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:11020 semapv:UnspecifiedMatching +OMIM:604217 SLC34A2 skos:exactMatch hgnc.symbol:SLC34A2 semapv:UnspecifiedMatching OMIM:604217 SLC34A2 skos:exactMatch ncbigene:10568 semapv:UnspecifiedMatching -OMIM:604220 ARPC1A skos:exactMatch hgnc:ARPC1A semapv:UnspecifiedMatching +OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:703 semapv:UnspecifiedMatching +OMIM:604220 ARPC1A skos:exactMatch hgnc.symbol:ARPC1A semapv:UnspecifiedMatching OMIM:604220 ARPC1A skos:exactMatch ncbigene:10552 semapv:UnspecifiedMatching -OMIM:604221 ACTR2 skos:exactMatch hgnc:ACTR2 semapv:UnspecifiedMatching +OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:169 semapv:UnspecifiedMatching +OMIM:604221 ACTR2 skos:exactMatch hgnc.symbol:ACTR2 semapv:UnspecifiedMatching OMIM:604221 ACTR2 skos:exactMatch ncbigene:10097 semapv:UnspecifiedMatching -OMIM:604222 ACTR3 skos:exactMatch hgnc:ACTR3 semapv:UnspecifiedMatching +OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:170 semapv:UnspecifiedMatching +OMIM:604222 ACTR3 skos:exactMatch hgnc.symbol:ACTR3 semapv:UnspecifiedMatching OMIM:604222 ACTR3 skos:exactMatch ncbigene:10096 semapv:UnspecifiedMatching OMIM:604223 ARPC1B skos:exactMatch UMLS:C1412546 semapv:UnspecifiedMatching OMIM:604223 ARPC1B skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching -OMIM:604223 ARPC1B skos:exactMatch hgnc:ARPC1B semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:704 semapv:UnspecifiedMatching +OMIM:604223 ARPC1B skos:exactMatch hgnc.symbol:ARPC1B semapv:UnspecifiedMatching OMIM:604223 ARPC1B skos:exactMatch ncbigene:10095 semapv:UnspecifiedMatching -OMIM:604224 ARPC2 skos:exactMatch hgnc:ARPC2 semapv:UnspecifiedMatching +OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:705 semapv:UnspecifiedMatching +OMIM:604224 ARPC2 skos:exactMatch hgnc.symbol:ARPC2 semapv:UnspecifiedMatching OMIM:604224 ARPC2 skos:exactMatch ncbigene:10109 semapv:UnspecifiedMatching -OMIM:604225 ARPC3 skos:exactMatch hgnc:ARPC3 semapv:UnspecifiedMatching +OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:706 semapv:UnspecifiedMatching +OMIM:604225 ARPC3 skos:exactMatch hgnc.symbol:ARPC3 semapv:UnspecifiedMatching OMIM:604225 ARPC3 skos:exactMatch ncbigene:10094 semapv:UnspecifiedMatching -OMIM:604226 ARPC4 skos:exactMatch hgnc:ARPC4 semapv:UnspecifiedMatching +OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:707 semapv:UnspecifiedMatching +OMIM:604226 ARPC4 skos:exactMatch hgnc.symbol:ARPC4 semapv:UnspecifiedMatching OMIM:604226 ARPC4 skos:exactMatch ncbigene:10093 semapv:UnspecifiedMatching -OMIM:604227 ARPC5 skos:exactMatch hgnc:ARPC5 semapv:UnspecifiedMatching +OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:708 semapv:UnspecifiedMatching +OMIM:604227 ARPC5 skos:exactMatch hgnc.symbol:ARPC5 semapv:UnspecifiedMatching OMIM:604227 ARPC5 skos:exactMatch ncbigene:10092 semapv:UnspecifiedMatching +OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch Orphanet:708 semapv:UnspecifiedMatching OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch UMLS:C4310809 semapv:UnspecifiedMatching -OMIM:604229 anterior segment dysgenesis 5 skos:exactMatch orphanet.ordo:708 semapv:UnspecifiedMatching -OMIM:604230 ADAT1 skos:exactMatch hgnc:ADAT1 semapv:UnspecifiedMatching +OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:228 semapv:UnspecifiedMatching +OMIM:604230 ADAT1 skos:exactMatch hgnc.symbol:ADAT1 semapv:UnspecifiedMatching OMIM:604230 ADAT1 skos:exactMatch ncbigene:23536 semapv:UnspecifiedMatching -OMIM:604231 PTTG2 skos:exactMatch hgnc:PTTG2 semapv:UnspecifiedMatching +OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:9691 semapv:UnspecifiedMatching +OMIM:604231 PTTG2 skos:exactMatch hgnc.symbol:PTTG2 semapv:UnspecifiedMatching OMIM:604231 PTTG2 skos:exactMatch ncbigene:10744 semapv:UnspecifiedMatching +OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch UMLS:C1858672 semapv:UnspecifiedMatching -OMIM:604233 generalized epilepsy with febrile seizures plus, iia 1 skos:exactMatch orphanet.ordo:36387 semapv:UnspecifiedMatching -OMIM:604234 ITGBL1 skos:exactMatch hgnc:ITGBL1 semapv:UnspecifiedMatching +OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:6164 semapv:UnspecifiedMatching +OMIM:604234 ITGBL1 skos:exactMatch hgnc.symbol:ITGBL1 semapv:UnspecifiedMatching OMIM:604234 ITGBL1 skos:exactMatch ncbigene:9358 semapv:UnspecifiedMatching -OMIM:604235 SLC7A8 skos:exactMatch hgnc:SLC7A8 semapv:UnspecifiedMatching +OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:11066 semapv:UnspecifiedMatching +OMIM:604235 SLC7A8 skos:exactMatch hgnc.symbol:SLC7A8 semapv:UnspecifiedMatching OMIM:604235 SLC7A8 skos:exactMatch ncbigene:23428 semapv:UnspecifiedMatching -OMIM:604237 CRLF1 skos:exactMatch hgnc:CRLF1 semapv:UnspecifiedMatching +OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:2364 semapv:UnspecifiedMatching +OMIM:604237 CRLF1 skos:exactMatch hgnc.symbol:CRLF1 semapv:UnspecifiedMatching OMIM:604237 CRLF1 skos:exactMatch ncbigene:9244 semapv:UnspecifiedMatching OMIM:604238 SNAI1 skos:exactMatch UMLS:C1420267 semapv:UnspecifiedMatching -OMIM:604238 SNAI1 skos:exactMatch hgnc:SNAI1 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:11128 semapv:UnspecifiedMatching +OMIM:604238 SNAI1 skos:exactMatch hgnc.symbol:SNAI1 semapv:UnspecifiedMatching OMIM:604238 SNAI1 skos:exactMatch ncbigene:6615 semapv:UnspecifiedMatching -OMIM:604239 PSPHL skos:exactMatch hgnc:PSPHP1 semapv:UnspecifiedMatching +OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:9578 semapv:UnspecifiedMatching +OMIM:604239 PSPHL skos:exactMatch hgnc.symbol:PSPHP1 semapv:UnspecifiedMatching OMIM:604239 PSPHL skos:exactMatch ncbigene:8781 semapv:UnspecifiedMatching -OMIM:604240 TLX2 skos:exactMatch hgnc:TLX2 semapv:UnspecifiedMatching +OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:5057 semapv:UnspecifiedMatching +OMIM:604240 TLX2 skos:exactMatch hgnc.symbol:TLX2 semapv:UnspecifiedMatching OMIM:604240 TLX2 skos:exactMatch ncbigene:3196 semapv:UnspecifiedMatching -OMIM:604241 CD2AP skos:exactMatch hgnc:CD2AP semapv:UnspecifiedMatching +OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:14258 semapv:UnspecifiedMatching +OMIM:604241 CD2AP skos:exactMatch hgnc.symbol:CD2AP semapv:UnspecifiedMatching OMIM:604241 CD2AP skos:exactMatch ncbigene:23607 semapv:UnspecifiedMatching -OMIM:604242 RNF6 skos:exactMatch hgnc:RNF6 semapv:UnspecifiedMatching +OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:10069 semapv:UnspecifiedMatching +OMIM:604242 RNF6 skos:exactMatch hgnc.symbol:RNF6 semapv:UnspecifiedMatching OMIM:604242 RNF6 skos:exactMatch ncbigene:6049 semapv:UnspecifiedMatching -OMIM:604249 RTN3 skos:exactMatch hgnc:RTN3 semapv:UnspecifiedMatching +OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:10469 semapv:UnspecifiedMatching +OMIM:604249 RTN3 skos:exactMatch hgnc.symbol:RTN3 semapv:UnspecifiedMatching OMIM:604249 RTN3 skos:exactMatch ncbigene:10313 semapv:UnspecifiedMatching -OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc:CABIN1 semapv:UnspecifiedMatching +OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:24187 semapv:UnspecifiedMatching +OMIM:604251 calcineurin-binding protein 1 skos:exactMatch hgnc.symbol:CABIN1 semapv:UnspecifiedMatching OMIM:604251 calcineurin-binding protein 1 skos:exactMatch ncbigene:23523 semapv:UnspecifiedMatching -OMIM:604252 BACE1 skos:exactMatch hgnc:BACE1 semapv:UnspecifiedMatching +OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:933 semapv:UnspecifiedMatching +OMIM:604252 BACE1 skos:exactMatch hgnc.symbol:BACE1 semapv:UnspecifiedMatching OMIM:604252 BACE1 skos:exactMatch ncbigene:23621 semapv:UnspecifiedMatching -OMIM:604253 CSNK1G3 skos:exactMatch hgnc:CSNK1G3 semapv:UnspecifiedMatching +OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:2456 semapv:UnspecifiedMatching +OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:CSNK1G3 semapv:UnspecifiedMatching OMIM:604253 CSNK1G3 skos:exactMatch ncbigene:1456 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch UMLS:C1825796 semapv:UnspecifiedMatching -OMIM:604255 LBX1 skos:exactMatch hgnc:LBX1 semapv:UnspecifiedMatching +OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:16960 semapv:UnspecifiedMatching +OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:LBX1 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch ncbigene:10660 semapv:UnspecifiedMatching OMIM:604256 BHLHE40 skos:exactMatch UMLS:C1412793 semapv:UnspecifiedMatching -OMIM:604256 BHLHE40 skos:exactMatch hgnc:BHLHE40 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:1046 semapv:UnspecifiedMatching +OMIM:604256 BHLHE40 skos:exactMatch hgnc.symbol:BHLHE40 semapv:UnspecifiedMatching OMIM:604256 BHLHE40 skos:exactMatch ncbigene:8553 semapv:UnspecifiedMatching OMIM:604258 DLC1 skos:exactMatch UMLS:C1366509 semapv:UnspecifiedMatching OMIM:604258 DLC1 skos:exactMatch UMLS:C1833970 semapv:UnspecifiedMatching -OMIM:604258 DLC1 skos:exactMatch hgnc:DLC1 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:2897 semapv:UnspecifiedMatching +OMIM:604258 DLC1 skos:exactMatch hgnc.symbol:DLC1 semapv:UnspecifiedMatching OMIM:604258 DLC1 skos:exactMatch ncbigene:10395 semapv:UnspecifiedMatching -OMIM:604259 PLXNC1 skos:exactMatch hgnc:PLXNC1 semapv:UnspecifiedMatching +OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:9106 semapv:UnspecifiedMatching +OMIM:604259 PLXNC1 skos:exactMatch hgnc.symbol:PLXNC1 semapv:UnspecifiedMatching OMIM:604259 PLXNC1 skos:exactMatch ncbigene:10154 semapv:UnspecifiedMatching OMIM:604260 STAT5B skos:exactMatch UMLS:C1335876 semapv:UnspecifiedMatching OMIM:604260 STAT5B skos:exactMatch UMLS:C5435698 semapv:UnspecifiedMatching OMIM:604260 STAT5B skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching -OMIM:604260 STAT5B skos:exactMatch hgnc:STAT5B semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:11367 semapv:UnspecifiedMatching +OMIM:604260 STAT5B skos:exactMatch hgnc.symbol:STAT5B semapv:UnspecifiedMatching OMIM:604260 STAT5B skos:exactMatch ncbigene:6777 semapv:UnspecifiedMatching -OMIM:604261 ATG5 skos:exactMatch hgnc:ATG5 semapv:UnspecifiedMatching +OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:589 semapv:UnspecifiedMatching +OMIM:604261 ATG5 skos:exactMatch hgnc.symbol:ATG5 semapv:UnspecifiedMatching OMIM:604261 ATG5 skos:exactMatch ncbigene:9474 semapv:UnspecifiedMatching -OMIM:604262 APBA3 skos:exactMatch hgnc:APBA3 semapv:UnspecifiedMatching +OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:580 semapv:UnspecifiedMatching +OMIM:604262 APBA3 skos:exactMatch hgnc.symbol:APBA3 semapv:UnspecifiedMatching OMIM:604262 APBA3 skos:exactMatch ncbigene:9546 semapv:UnspecifiedMatching -OMIM:604263 PRND skos:exactMatch hgnc:PRND semapv:UnspecifiedMatching +OMIM:604263 PRND skos:exactMatch hgnc.symbol:15748 semapv:UnspecifiedMatching +OMIM:604263 PRND skos:exactMatch hgnc.symbol:PRND semapv:UnspecifiedMatching OMIM:604263 PRND skos:exactMatch ncbigene:23627 semapv:UnspecifiedMatching -OMIM:604264 CELSR3 skos:exactMatch hgnc:CELSR3 semapv:UnspecifiedMatching +OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:3230 semapv:UnspecifiedMatching +OMIM:604264 CELSR3 skos:exactMatch hgnc.symbol:CELSR3 semapv:UnspecifiedMatching OMIM:604264 CELSR3 skos:exactMatch ncbigene:1951 semapv:UnspecifiedMatching -OMIM:604265 CELSR2 skos:exactMatch hgnc:CELSR2 semapv:UnspecifiedMatching +OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:3231 semapv:UnspecifiedMatching +OMIM:604265 CELSR2 skos:exactMatch hgnc.symbol:CELSR2 semapv:UnspecifiedMatching OMIM:604265 CELSR2 skos:exactMatch ncbigene:1952 semapv:UnspecifiedMatching -OMIM:604266 MEGF6 skos:exactMatch hgnc:MEGF6 semapv:UnspecifiedMatching +OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:3232 semapv:UnspecifiedMatching +OMIM:604266 MEGF6 skos:exactMatch hgnc.symbol:MEGF6 semapv:UnspecifiedMatching OMIM:604266 MEGF6 skos:exactMatch ncbigene:1953 semapv:UnspecifiedMatching -OMIM:604267 MEGF8 skos:exactMatch hgnc:MEGF8 semapv:UnspecifiedMatching +OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:3233 semapv:UnspecifiedMatching +OMIM:604267 MEGF8 skos:exactMatch hgnc.symbol:MEGF8 semapv:UnspecifiedMatching OMIM:604267 MEGF8 skos:exactMatch ncbigene:1954 semapv:UnspecifiedMatching -OMIM:604268 MEGF9 skos:exactMatch hgnc:MEGF9 semapv:UnspecifiedMatching +OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:3234 semapv:UnspecifiedMatching +OMIM:604268 MEGF9 skos:exactMatch hgnc.symbol:MEGF9 semapv:UnspecifiedMatching OMIM:604268 MEGF9 skos:exactMatch ncbigene:1955 semapv:UnspecifiedMatching -OMIM:604269 FAT2 skos:exactMatch hgnc:FAT2 semapv:UnspecifiedMatching +OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:3596 semapv:UnspecifiedMatching +OMIM:604269 FAT2 skos:exactMatch hgnc.symbol:FAT2 semapv:UnspecifiedMatching OMIM:604269 FAT2 skos:exactMatch ncbigene:2196 semapv:UnspecifiedMatching -OMIM:604270 LRP4 skos:exactMatch hgnc:LRP4 semapv:UnspecifiedMatching +OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:6696 semapv:UnspecifiedMatching +OMIM:604270 LRP4 skos:exactMatch hgnc.symbol:LRP4 semapv:UnspecifiedMatching OMIM:604270 LRP4 skos:exactMatch ncbigene:4038 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch UMLS:C1419873 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch UMLS:C1837148 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching -OMIM:604272 SCO2 skos:exactMatch hgnc:SCO2 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:10604 semapv:UnspecifiedMatching +OMIM:604272 SCO2 skos:exactMatch hgnc.symbol:SCO2 semapv:UnspecifiedMatching OMIM:604272 SCO2 skos:exactMatch ncbigene:9997 semapv:UnspecifiedMatching OMIM:604274 KLRA1P skos:exactMatch UMLS:C1334309 semapv:UnspecifiedMatching -OMIM:604274 KLRA1P skos:exactMatch hgnc:KLRA1P semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:6372 semapv:UnspecifiedMatching +OMIM:604274 KLRA1P skos:exactMatch hgnc.symbol:KLRA1P semapv:UnspecifiedMatching OMIM:604274 KLRA1P skos:exactMatch ncbigene:10748 semapv:UnspecifiedMatching -OMIM:604275 CTNND2 skos:exactMatch hgnc:CTNND2 semapv:UnspecifiedMatching +OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:2516 semapv:UnspecifiedMatching +OMIM:604275 CTNND2 skos:exactMatch hgnc.symbol:CTNND2 semapv:UnspecifiedMatching OMIM:604275 CTNND2 skos:exactMatch ncbigene:1501 semapv:UnspecifiedMatching -OMIM:604276 PKP4 skos:exactMatch hgnc:PKP4 semapv:UnspecifiedMatching +OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:9026 semapv:UnspecifiedMatching +OMIM:604276 PKP4 skos:exactMatch hgnc.symbol:PKP4 semapv:UnspecifiedMatching OMIM:604276 PKP4 skos:exactMatch ncbigene:8502 semapv:UnspecifiedMatching -OMIM:604277 SPAST skos:exactMatch hgnc:SPAST semapv:UnspecifiedMatching +OMIM:604277 SPAST skos:exactMatch hgnc.symbol:11233 semapv:UnspecifiedMatching +OMIM:604277 SPAST skos:exactMatch hgnc.symbol:SPAST semapv:UnspecifiedMatching OMIM:604277 SPAST skos:exactMatch ncbigene:6683 semapv:UnspecifiedMatching -OMIM:604279 JMY skos:exactMatch hgnc:JMY semapv:UnspecifiedMatching +OMIM:604279 JMY skos:exactMatch hgnc.symbol:28916 semapv:UnspecifiedMatching +OMIM:604279 JMY skos:exactMatch hgnc.symbol:JMY semapv:UnspecifiedMatching OMIM:604279 JMY skos:exactMatch ncbigene:133746 semapv:UnspecifiedMatching OMIM:604280 PLXNA4 skos:exactMatch UMLS:C1826602 semapv:UnspecifiedMatching -OMIM:604280 PLXNA4 skos:exactMatch hgnc:PLXNA4 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:9102 semapv:UnspecifiedMatching +OMIM:604280 PLXNA4 skos:exactMatch hgnc.symbol:PLXNA4 semapv:UnspecifiedMatching OMIM:604280 PLXNA4 skos:exactMatch ncbigene:91584 semapv:UnspecifiedMatching OMIM:604281 DBF4 skos:exactMatch UMLS:C1332118 semapv:UnspecifiedMatching -OMIM:604281 DBF4 skos:exactMatch hgnc:DBF4 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:17364 semapv:UnspecifiedMatching +OMIM:604281 DBF4 skos:exactMatch hgnc.symbol:DBF4 semapv:UnspecifiedMatching OMIM:604281 DBF4 skos:exactMatch ncbigene:10926 semapv:UnspecifiedMatching OMIM:604282 PLXND1 skos:exactMatch UMLS:C1418668 semapv:UnspecifiedMatching -OMIM:604282 PLXND1 skos:exactMatch hgnc:PLXND1 semapv:UnspecifiedMatching +OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:9107 semapv:UnspecifiedMatching +OMIM:604282 PLXND1 skos:exactMatch hgnc.symbol:PLXND1 semapv:UnspecifiedMatching OMIM:604282 PLXND1 skos:exactMatch ncbigene:23129 semapv:UnspecifiedMatching -OMIM:604283 PRG4 skos:exactMatch hgnc:PRG4 semapv:UnspecifiedMatching +OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:9364 semapv:UnspecifiedMatching +OMIM:604283 PRG4 skos:exactMatch hgnc.symbol:PRG4 semapv:UnspecifiedMatching OMIM:604283 PRG4 skos:exactMatch ncbigene:10216 semapv:UnspecifiedMatching -OMIM:604285 AGXT skos:exactMatch hgnc:AGXT semapv:UnspecifiedMatching +OMIM:604285 AGXT skos:exactMatch hgnc.symbol:341 semapv:UnspecifiedMatching +OMIM:604285 AGXT skos:exactMatch hgnc.symbol:AGXT semapv:UnspecifiedMatching OMIM:604285 AGXT skos:exactMatch ncbigene:189 semapv:UnspecifiedMatching -OMIM:604289 RAD54B skos:exactMatch hgnc:RAD54B semapv:UnspecifiedMatching +OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:17228 semapv:UnspecifiedMatching +OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:RAD54B semapv:UnspecifiedMatching OMIM:604289 RAD54B skos:exactMatch ncbigene:25788 semapv:UnspecifiedMatching -OMIM:604293 PLXNB2 skos:exactMatch hgnc:PLXNB2 semapv:UnspecifiedMatching +OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:9104 semapv:UnspecifiedMatching +OMIM:604293 PLXNB2 skos:exactMatch hgnc.symbol:PLXNB2 semapv:UnspecifiedMatching OMIM:604293 PLXNB2 skos:exactMatch ncbigene:23654 semapv:UnspecifiedMatching -OMIM:604294 VAX1 skos:exactMatch hgnc:VAX1 semapv:UnspecifiedMatching +OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:12660 semapv:UnspecifiedMatching +OMIM:604294 VAX1 skos:exactMatch hgnc.symbol:VAX1 semapv:UnspecifiedMatching OMIM:604294 VAX1 skos:exactMatch ncbigene:11023 semapv:UnspecifiedMatching -OMIM:604295 VAX2 skos:exactMatch hgnc:VAX2 semapv:UnspecifiedMatching +OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:12661 semapv:UnspecifiedMatching +OMIM:604295 VAX2 skos:exactMatch hgnc.symbol:VAX2 semapv:UnspecifiedMatching OMIM:604295 VAX2 skos:exactMatch ncbigene:25806 semapv:UnspecifiedMatching -OMIM:604296 GRHPR skos:exactMatch hgnc:GRHPR semapv:UnspecifiedMatching +OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:4570 semapv:UnspecifiedMatching +OMIM:604296 GRHPR skos:exactMatch hgnc.symbol:GRHPR semapv:UnspecifiedMatching OMIM:604296 GRHPR skos:exactMatch ncbigene:9380 semapv:UnspecifiedMatching OMIM:604297 SYNJ1 skos:exactMatch UMLS:C1420552 semapv:UnspecifiedMatching OMIM:604297 SYNJ1 skos:exactMatch UMLS:C3809824 semapv:UnspecifiedMatching OMIM:604297 SYNJ1 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching -OMIM:604297 SYNJ1 skos:exactMatch hgnc:SYNJ1 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:11503 semapv:UnspecifiedMatching +OMIM:604297 SYNJ1 skos:exactMatch hgnc.symbol:SYNJ1 semapv:UnspecifiedMatching OMIM:604297 SYNJ1 skos:exactMatch ncbigene:8867 semapv:UnspecifiedMatching -OMIM:604298 STAP1 skos:exactMatch hgnc:STAP1 semapv:UnspecifiedMatching +OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:24133 semapv:UnspecifiedMatching +OMIM:604298 STAP1 skos:exactMatch hgnc.symbol:STAP1 semapv:UnspecifiedMatching OMIM:604298 STAP1 skos:exactMatch ncbigene:26228 semapv:UnspecifiedMatching -OMIM:604299 APPL1 skos:exactMatch hgnc:APPL1 semapv:UnspecifiedMatching +OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:24035 semapv:UnspecifiedMatching +OMIM:604299 APPL1 skos:exactMatch hgnc.symbol:APPL1 semapv:UnspecifiedMatching OMIM:604299 APPL1 skos:exactMatch ncbigene:26060 semapv:UnspecifiedMatching -OMIM:604300 HACL1 skos:exactMatch hgnc:HACL1 semapv:UnspecifiedMatching +OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:17856 semapv:UnspecifiedMatching +OMIM:604300 HACL1 skos:exactMatch hgnc.symbol:HACL1 semapv:UnspecifiedMatching OMIM:604300 HACL1 skos:exactMatch ncbigene:26061 semapv:UnspecifiedMatching OMIM:604301 oculomedin skos:exactMatch UMLS:C1417927 semapv:UnspecifiedMatching +OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch UMLS:C1858558 semapv:UnspecifiedMatching -OMIM:604302 rheumatoid arthritis, systemic juvenile skos:exactMatch orphanet.ordo:85414 semapv:UnspecifiedMatching -OMIM:604303 ACTL7A skos:exactMatch hgnc:ACTL7A semapv:UnspecifiedMatching +OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:161 semapv:UnspecifiedMatching +OMIM:604303 ACTL7A skos:exactMatch hgnc.symbol:ACTL7A semapv:UnspecifiedMatching OMIM:604303 ACTL7A skos:exactMatch ncbigene:10881 semapv:UnspecifiedMatching -OMIM:604304 ACTL7B skos:exactMatch hgnc:ACTL7B semapv:UnspecifiedMatching +OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:162 semapv:UnspecifiedMatching +OMIM:604304 ACTL7B skos:exactMatch hgnc.symbol:ACTL7B semapv:UnspecifiedMatching OMIM:604304 ACTL7B skos:exactMatch ncbigene:10880 semapv:UnspecifiedMatching -OMIM:604305 HLA-DQB1 skos:exactMatch hgnc:HLA-DQB1 semapv:UnspecifiedMatching +OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:4944 semapv:UnspecifiedMatching +OMIM:604305 HLA-DQB1 skos:exactMatch hgnc.symbol:HLA-DQB1 semapv:UnspecifiedMatching OMIM:604305 HLA-DQB1 skos:exactMatch ncbigene:3119 semapv:UnspecifiedMatching -OMIM:604306 FAIM2 skos:exactMatch hgnc:FAIM2 semapv:UnspecifiedMatching +OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:17067 semapv:UnspecifiedMatching +OMIM:604306 FAIM2 skos:exactMatch hgnc.symbol:FAIM2 semapv:UnspecifiedMatching OMIM:604306 FAIM2 skos:exactMatch ncbigene:23017 semapv:UnspecifiedMatching -OMIM:604309 SLC13A4 skos:exactMatch hgnc:SLC13A4 semapv:UnspecifiedMatching +OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:15827 semapv:UnspecifiedMatching +OMIM:604309 SLC13A4 skos:exactMatch hgnc.symbol:SLC13A4 semapv:UnspecifiedMatching OMIM:604309 SLC13A4 skos:exactMatch ncbigene:26266 semapv:UnspecifiedMatching -OMIM:604310 BLOC1S6 skos:exactMatch hgnc:BLOC1S6 semapv:UnspecifiedMatching +OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:8549 semapv:UnspecifiedMatching +OMIM:604310 BLOC1S6 skos:exactMatch hgnc.symbol:BLOC1S6 semapv:UnspecifiedMatching OMIM:604310 BLOC1S6 skos:exactMatch ncbigene:26258 semapv:UnspecifiedMatching -OMIM:604311 MED1 skos:exactMatch hgnc:MED1 semapv:UnspecifiedMatching +OMIM:604311 MED1 skos:exactMatch hgnc.symbol:9234 semapv:UnspecifiedMatching +OMIM:604311 MED1 skos:exactMatch hgnc.symbol:MED1 semapv:UnspecifiedMatching OMIM:604311 MED1 skos:exactMatch ncbigene:5469 semapv:UnspecifiedMatching -OMIM:604312 CST3 skos:exactMatch hgnc:CST3 semapv:UnspecifiedMatching +OMIM:604312 CST3 skos:exactMatch hgnc.symbol:2475 semapv:UnspecifiedMatching +OMIM:604312 CST3 skos:exactMatch hgnc.symbol:CST3 semapv:UnspecifiedMatching OMIM:604312 CST3 skos:exactMatch ncbigene:1471 semapv:UnspecifiedMatching OMIM:604313 GALK1 skos:exactMatch UMLS:C0268155 semapv:UnspecifiedMatching OMIM:604313 GALK1 skos:exactMatch UMLS:C1414948 semapv:UnspecifiedMatching -OMIM:604313 GALK1 skos:exactMatch hgnc:GALK1 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:4118 semapv:UnspecifiedMatching +OMIM:604313 GALK1 skos:exactMatch hgnc.symbol:GALK1 semapv:UnspecifiedMatching OMIM:604313 GALK1 skos:exactMatch ncbigene:2584 semapv:UnspecifiedMatching -OMIM:604318 GTF2IRD1 skos:exactMatch hgnc:GTF2IRD1 semapv:UnspecifiedMatching +OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:4661 semapv:UnspecifiedMatching +OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:GTF2IRD1 semapv:UnspecifiedMatching OMIM:604318 GTF2IRD1 skos:exactMatch ncbigene:9569 semapv:UnspecifiedMatching -OMIM:604319 TINF2 skos:exactMatch hgnc:TINF2 semapv:UnspecifiedMatching +OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:11824 semapv:UnspecifiedMatching +OMIM:604319 TINF2 skos:exactMatch hgnc.symbol:TINF2 semapv:UnspecifiedMatching OMIM:604319 TINF2 skos:exactMatch ncbigene:26277 semapv:UnspecifiedMatching -OMIM:604322 SLC17A5 skos:exactMatch hgnc:SLC17A5 semapv:UnspecifiedMatching +OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:10933 semapv:UnspecifiedMatching +OMIM:604322 SLC17A5 skos:exactMatch hgnc.symbol:SLC17A5 semapv:UnspecifiedMatching OMIM:604322 SLC17A5 skos:exactMatch ncbigene:26503 semapv:UnspecifiedMatching -OMIM:604323 ABCC3 skos:exactMatch hgnc:ABCC3 semapv:UnspecifiedMatching +OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:54 semapv:UnspecifiedMatching +OMIM:604323 ABCC3 skos:exactMatch hgnc.symbol:ABCC3 semapv:UnspecifiedMatching OMIM:604323 ABCC3 skos:exactMatch ncbigene:8714 semapv:UnspecifiedMatching -OMIM:604325 PPP2R2B skos:exactMatch hgnc:PPP2R2B semapv:UnspecifiedMatching +OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:9305 semapv:UnspecifiedMatching +OMIM:604325 PPP2R2B skos:exactMatch hgnc.symbol:PPP2R2B semapv:UnspecifiedMatching OMIM:604325 PPP2R2B skos:exactMatch ncbigene:5521 semapv:UnspecifiedMatching -OMIM:604327 B4GALT7 skos:exactMatch hgnc:B4GALT7 semapv:UnspecifiedMatching +OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:930 semapv:UnspecifiedMatching +OMIM:604327 B4GALT7 skos:exactMatch hgnc.symbol:B4GALT7 semapv:UnspecifiedMatching OMIM:604327 B4GALT7 skos:exactMatch ncbigene:11285 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch UMLS:C1420432 semapv:UnspecifiedMatching -OMIM:604328 SSRP1 skos:exactMatch hgnc:SSRP1 semapv:UnspecifiedMatching +OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:11327 semapv:UnspecifiedMatching +OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:SSRP1 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch ncbigene:6749 semapv:UnspecifiedMatching -OMIM:604330 GRAP skos:exactMatch hgnc:GRAP semapv:UnspecifiedMatching +OMIM:604330 GRAP skos:exactMatch hgnc.symbol:4562 semapv:UnspecifiedMatching +OMIM:604330 GRAP skos:exactMatch hgnc.symbol:GRAP semapv:UnspecifiedMatching OMIM:604330 GRAP skos:exactMatch ncbigene:10750 semapv:UnspecifiedMatching -OMIM:604331 INTS6 skos:exactMatch hgnc:INTS6 semapv:UnspecifiedMatching +OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:14879 semapv:UnspecifiedMatching +OMIM:604331 INTS6 skos:exactMatch hgnc.symbol:INTS6 semapv:UnspecifiedMatching OMIM:604331 INTS6 skos:exactMatch ncbigene:26512 semapv:UnspecifiedMatching -OMIM:604332 CHIC2 skos:exactMatch hgnc:CHIC2 semapv:UnspecifiedMatching +OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:1935 semapv:UnspecifiedMatching +OMIM:604332 CHIC2 skos:exactMatch hgnc.symbol:CHIC2 semapv:UnspecifiedMatching OMIM:604332 CHIC2 skos:exactMatch ncbigene:26511 semapv:UnspecifiedMatching -OMIM:604333 CIAO1 skos:exactMatch hgnc:CIAO1 semapv:UnspecifiedMatching +OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:14280 semapv:UnspecifiedMatching +OMIM:604333 CIAO1 skos:exactMatch hgnc.symbol:CIAO1 semapv:UnspecifiedMatching OMIM:604333 CIAO1 skos:exactMatch ncbigene:9391 semapv:UnspecifiedMatching -OMIM:604334 USP6 skos:exactMatch hgnc:USP6 semapv:UnspecifiedMatching +OMIM:604334 USP6 skos:exactMatch hgnc.symbol:12629 semapv:UnspecifiedMatching +OMIM:604334 USP6 skos:exactMatch hgnc.symbol:USP6 semapv:UnspecifiedMatching OMIM:604334 USP6 skos:exactMatch ncbigene:9098 semapv:UnspecifiedMatching OMIM:604336 TPTE skos:exactMatch UMLS:C1420883 semapv:UnspecifiedMatching -OMIM:604336 TPTE skos:exactMatch hgnc:TPTE semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch hgnc.symbol:12023 semapv:UnspecifiedMatching +OMIM:604336 TPTE skos:exactMatch hgnc.symbol:TPTE semapv:UnspecifiedMatching OMIM:604336 TPTE skos:exactMatch ncbigene:7179 semapv:UnspecifiedMatching -OMIM:604337 CLCA3P skos:exactMatch hgnc:CLCA3P semapv:UnspecifiedMatching +OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:2017 semapv:UnspecifiedMatching +OMIM:604337 CLCA3P skos:exactMatch hgnc.symbol:CLCA3P semapv:UnspecifiedMatching OMIM:604337 CLCA3P skos:exactMatch ncbigene:9629 semapv:UnspecifiedMatching -OMIM:604344 MAN1A1 skos:exactMatch hgnc:MAN1A1 semapv:UnspecifiedMatching +OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:6821 semapv:UnspecifiedMatching +OMIM:604344 MAN1A1 skos:exactMatch hgnc.symbol:MAN1A1 semapv:UnspecifiedMatching OMIM:604344 MAN1A1 skos:exactMatch ncbigene:4121 semapv:UnspecifiedMatching -OMIM:604345 MAN1A2 skos:exactMatch hgnc:MAN1A2 semapv:UnspecifiedMatching +OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:6822 semapv:UnspecifiedMatching +OMIM:604345 MAN1A2 skos:exactMatch hgnc.symbol:MAN1A2 semapv:UnspecifiedMatching OMIM:604345 MAN1A2 skos:exactMatch ncbigene:10905 semapv:UnspecifiedMatching OMIM:604346 MAN1B1 skos:exactMatch UMLS:C1416994 semapv:UnspecifiedMatching OMIM:604346 MAN1B1 skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching -OMIM:604346 MAN1B1 skos:exactMatch hgnc:MAN1B1 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:6823 semapv:UnspecifiedMatching +OMIM:604346 MAN1B1 skos:exactMatch hgnc.symbol:MAN1B1 semapv:UnspecifiedMatching OMIM:604346 MAN1B1 skos:exactMatch ncbigene:11253 semapv:UnspecifiedMatching -OMIM:604347 ZRANB2 skos:exactMatch hgnc:ZRANB2 semapv:UnspecifiedMatching +OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:13058 semapv:UnspecifiedMatching +OMIM:604347 ZRANB2 skos:exactMatch hgnc.symbol:ZRANB2 semapv:UnspecifiedMatching OMIM:604347 ZRANB2 skos:exactMatch ncbigene:9406 semapv:UnspecifiedMatching -OMIM:604349 LAMC3 skos:exactMatch hgnc:LAMC3 semapv:UnspecifiedMatching +OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:6494 semapv:UnspecifiedMatching +OMIM:604349 LAMC3 skos:exactMatch hgnc.symbol:LAMC3 semapv:UnspecifiedMatching OMIM:604349 LAMC3 skos:exactMatch ncbigene:10319 semapv:UnspecifiedMatching -OMIM:604350 RAB3D skos:exactMatch hgnc:RAB3D semapv:UnspecifiedMatching +OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:9779 semapv:UnspecifiedMatching +OMIM:604350 RAB3D skos:exactMatch hgnc.symbol:RAB3D semapv:UnspecifiedMatching OMIM:604350 RAB3D skos:exactMatch ncbigene:9545 semapv:UnspecifiedMatching -OMIM:604351 PHF2 skos:exactMatch hgnc:PHF2 semapv:UnspecifiedMatching +OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:8920 semapv:UnspecifiedMatching +OMIM:604351 PHF2 skos:exactMatch hgnc.symbol:PHF2 semapv:UnspecifiedMatching OMIM:604351 PHF2 skos:exactMatch ncbigene:5253 semapv:UnspecifiedMatching -OMIM:604353 CHORDC1 skos:exactMatch hgnc:CHORDC1 semapv:UnspecifiedMatching +OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:14525 semapv:UnspecifiedMatching +OMIM:604353 CHORDC1 skos:exactMatch hgnc.symbol:CHORDC1 semapv:UnspecifiedMatching OMIM:604353 CHORDC1 skos:exactMatch ncbigene:26973 semapv:UnspecifiedMatching -OMIM:604354 NUFIP1 skos:exactMatch hgnc:NUFIP1 semapv:UnspecifiedMatching +OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:8057 semapv:UnspecifiedMatching +OMIM:604354 NUFIP1 skos:exactMatch hgnc.symbol:NUFIP1 semapv:UnspecifiedMatching OMIM:604354 NUFIP1 skos:exactMatch ncbigene:26747 semapv:UnspecifiedMatching -OMIM:604355 COPG2 skos:exactMatch hgnc:COPG2 semapv:UnspecifiedMatching +OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:2237 semapv:UnspecifiedMatching +OMIM:604355 COPG2 skos:exactMatch hgnc.symbol:COPG2 semapv:UnspecifiedMatching OMIM:604355 COPG2 skos:exactMatch ncbigene:26958 semapv:UnspecifiedMatching +OMIM:604356 duane retraction syndrome 2 skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching OMIM:604356 duane retraction syndrome 2 skos:exactMatch UMLS:C0751083 semapv:UnspecifiedMatching -OMIM:604356 duane retraction syndrome 2 skos:exactMatch orphanet.ordo:233 semapv:UnspecifiedMatching -OMIM:604357 MAB21L2 skos:exactMatch hgnc:MAB21L2 semapv:UnspecifiedMatching +OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:6758 semapv:UnspecifiedMatching +OMIM:604357 MAB21L2 skos:exactMatch hgnc.symbol:MAB21L2 semapv:UnspecifiedMatching OMIM:604357 MAB21L2 skos:exactMatch ncbigene:10586 semapv:UnspecifiedMatching OMIM:604358 STAG1 skos:exactMatch UMLS:C1420448 semapv:UnspecifiedMatching OMIM:604358 STAG1 skos:exactMatch UMLS:C4539951 semapv:UnspecifiedMatching -OMIM:604358 STAG1 skos:exactMatch hgnc:STAG1 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:11354 semapv:UnspecifiedMatching +OMIM:604358 STAG1 skos:exactMatch hgnc.symbol:STAG1 semapv:UnspecifiedMatching OMIM:604358 STAG1 skos:exactMatch ncbigene:10274 semapv:UnspecifiedMatching -OMIM:604362 LMO7 skos:exactMatch hgnc:LMO7 semapv:UnspecifiedMatching +OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:6646 semapv:UnspecifiedMatching +OMIM:604362 LMO7 skos:exactMatch hgnc.symbol:LMO7 semapv:UnspecifiedMatching OMIM:604362 LMO7 skos:exactMatch ncbigene:4008 semapv:UnspecifiedMatching +OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch Orphanet:98820 semapv:UnspecifiedMatching OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C1858477 semapv:UnspecifiedMatching OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch UMLS:C4551983 semapv:UnspecifiedMatching -OMIM:604364 epilepsy, familial focal, with variable foci 1 skos:exactMatch orphanet.ordo:98820 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C0339512 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C1418946 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C1863534 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch UMLS:C2677516 semapv:UnspecifiedMatching -OMIM:604365 PROM1 skos:exactMatch hgnc:PROM1 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:9454 semapv:UnspecifiedMatching +OMIM:604365 PROM1 skos:exactMatch hgnc.symbol:PROM1 semapv:UnspecifiedMatching OMIM:604365 PROM1 skos:exactMatch ncbigene:8842 semapv:UnspecifiedMatching -OMIM:604366 DNAI1 skos:exactMatch hgnc:DNAI1 semapv:UnspecifiedMatching +OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:2954 semapv:UnspecifiedMatching +OMIM:604366 DNAI1 skos:exactMatch hgnc.symbol:DNAI1 semapv:UnspecifiedMatching OMIM:604366 DNAI1 skos:exactMatch ncbigene:27019 semapv:UnspecifiedMatching -OMIM:604368 GPNMB skos:exactMatch hgnc:GPNMB semapv:UnspecifiedMatching +OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:4462 semapv:UnspecifiedMatching +OMIM:604368 GPNMB skos:exactMatch hgnc.symbol:GPNMB semapv:UnspecifiedMatching OMIM:604368 GPNMB skos:exactMatch ncbigene:10457 semapv:UnspecifiedMatching -OMIM:604371 HHLA2 skos:exactMatch hgnc:HHLA2 semapv:UnspecifiedMatching +OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:4905 semapv:UnspecifiedMatching +OMIM:604371 HHLA2 skos:exactMatch hgnc.symbol:HHLA2 semapv:UnspecifiedMatching OMIM:604371 HHLA2 skos:exactMatch ncbigene:11148 semapv:UnspecifiedMatching -OMIM:604372 HHLA3 skos:exactMatch hgnc:ANKRD13C-DT semapv:UnspecifiedMatching +OMIM:604372 HHLA3 skos:exactMatch hgnc.symbol:ANKRD13C-DT semapv:UnspecifiedMatching OMIM:604372 HHLA3 skos:exactMatch ncbigene:11147 semapv:UnspecifiedMatching -OMIM:604373 CHEK2 skos:exactMatch hgnc:CHEK2 semapv:UnspecifiedMatching +OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:16627 semapv:UnspecifiedMatching +OMIM:604373 CHEK2 skos:exactMatch hgnc.symbol:CHEK2 semapv:UnspecifiedMatching OMIM:604373 CHEK2 skos:exactMatch ncbigene:11200 semapv:UnspecifiedMatching -OMIM:604374 MTL5 skos:exactMatch hgnc:TESMIN semapv:UnspecifiedMatching +OMIM:604374 MTL5 skos:exactMatch hgnc.symbol:7446 semapv:UnspecifiedMatching +OMIM:604374 MTL5 skos:exactMatch hgnc.symbol:TESMIN semapv:UnspecifiedMatching OMIM:604374 MTL5 skos:exactMatch ncbigene:9633 semapv:UnspecifiedMatching -OMIM:604375 HGS skos:exactMatch hgnc:HGS semapv:UnspecifiedMatching +OMIM:604375 HGS skos:exactMatch hgnc.symbol:4897 semapv:UnspecifiedMatching +OMIM:604375 HGS skos:exactMatch hgnc.symbol:HGS semapv:UnspecifiedMatching OMIM:604375 HGS skos:exactMatch ncbigene:9146 semapv:UnspecifiedMatching -OMIM:604376 MPZL1 skos:exactMatch hgnc:MPZL1 semapv:UnspecifiedMatching +OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:7226 semapv:UnspecifiedMatching +OMIM:604376 MPZL1 skos:exactMatch hgnc.symbol:MPZL1 semapv:UnspecifiedMatching OMIM:604376 MPZL1 skos:exactMatch ncbigene:9019 semapv:UnspecifiedMatching +OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C1858424 semapv:UnspecifiedMatching OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching -OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 skos:exactMatch orphanet.ordo:1561 semapv:UnspecifiedMatching OMIM:604378 BECN1 skos:exactMatch UMLS:C1412785 semapv:UnspecifiedMatching -OMIM:604378 BECN1 skos:exactMatch hgnc:BECN1 semapv:UnspecifiedMatching +OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:1034 semapv:UnspecifiedMatching +OMIM:604378 BECN1 skos:exactMatch hgnc.symbol:BECN1 semapv:UnspecifiedMatching OMIM:604378 BECN1 skos:exactMatch ncbigene:8678 semapv:UnspecifiedMatching -OMIM:604383 GFI1B skos:exactMatch hgnc:GFI1B semapv:UnspecifiedMatching +OMIM:604383 GFI1B skos:exactMatch hgnc.symbol:4238 semapv:UnspecifiedMatching +OMIM:604383 GFI1B skos:exactMatch hgnc.symbol:GFI1B semapv:UnspecifiedMatching OMIM:604383 GFI1B skos:exactMatch ncbigene:8328 semapv:UnspecifiedMatching -OMIM:604384 ATP2C1 skos:exactMatch hgnc:ATP2C1 semapv:UnspecifiedMatching +OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:13211 semapv:UnspecifiedMatching +OMIM:604384 ATP2C1 skos:exactMatch hgnc.symbol:ATP2C1 semapv:UnspecifiedMatching OMIM:604384 ATP2C1 skos:exactMatch ncbigene:27032 semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch UMLS:C1419854 semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch UMLS:C3809882 semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch UMLS:C3809899 semapv:UnspecifiedMatching -OMIM:604385 SCN11A skos:exactMatch hgnc:SCN11A semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:10583 semapv:UnspecifiedMatching +OMIM:604385 SCN11A skos:exactMatch hgnc.symbol:SCN11A semapv:UnspecifiedMatching OMIM:604385 SCN11A skos:exactMatch ncbigene:11280 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch UMLS:C0432233 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch UMLS:C1421175 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch UMLS:C1860823 semapv:UnspecifiedMatching -OMIM:604386 TRPS1 skos:exactMatch hgnc:TRPS1 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:12340 semapv:UnspecifiedMatching +OMIM:604386 TRPS1 skos:exactMatch hgnc.symbol:TRPS1 semapv:UnspecifiedMatching OMIM:604386 TRPS1 skos:exactMatch ncbigene:7227 semapv:UnspecifiedMatching -OMIM:604388 GNG4 skos:exactMatch hgnc:GNG4 semapv:UnspecifiedMatching +OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:4407 semapv:UnspecifiedMatching +OMIM:604388 GNG4 skos:exactMatch hgnc.symbol:GNG4 semapv:UnspecifiedMatching OMIM:604388 GNG4 skos:exactMatch ncbigene:2786 semapv:UnspecifiedMatching -OMIM:604389 GNG10 skos:exactMatch hgnc:GNG10 semapv:UnspecifiedMatching +OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:4402 semapv:UnspecifiedMatching +OMIM:604389 GNG10 skos:exactMatch hgnc.symbol:GNG10 semapv:UnspecifiedMatching OMIM:604389 GNG10 skos:exactMatch ncbigene:2790 semapv:UnspecifiedMatching -OMIM:604390 GNG11 skos:exactMatch hgnc:GNG11 semapv:UnspecifiedMatching +OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:4403 semapv:UnspecifiedMatching +OMIM:604390 GNG11 skos:exactMatch hgnc.symbol:GNG11 semapv:UnspecifiedMatching OMIM:604390 GNG11 skos:exactMatch ncbigene:2791 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch UMLS:C1412303 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751763 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch UMLS:C2751764 semapv:UnspecifiedMatching -OMIM:604392 AIPL1 skos:exactMatch hgnc:AIPL1 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:359 semapv:UnspecifiedMatching +OMIM:604392 AIPL1 skos:exactMatch hgnc.symbol:AIPL1 semapv:UnspecifiedMatching OMIM:604392 AIPL1 skos:exactMatch ncbigene:23746 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:65 semapv:UnspecifiedMatching +OMIM:604393 leber congenital amaurosis 4 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:604393 leber congenital amaurosis 4 skos:exactMatch UMLS:C1858386 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch orphanet.ordo:1872 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch orphanet.ordo:65 semapv:UnspecifiedMatching -OMIM:604393 leber congenital amaurosis 4 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching -OMIM:604394 GNA12 skos:exactMatch hgnc:GNA12 semapv:UnspecifiedMatching +OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:4380 semapv:UnspecifiedMatching +OMIM:604394 GNA12 skos:exactMatch hgnc.symbol:GNA12 semapv:UnspecifiedMatching OMIM:604394 GNA12 skos:exactMatch ncbigene:2768 semapv:UnspecifiedMatching -OMIM:604395 MLH3 skos:exactMatch hgnc:MLH3 semapv:UnspecifiedMatching +OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:7128 semapv:UnspecifiedMatching +OMIM:604395 MLH3 skos:exactMatch hgnc.symbol:MLH3 semapv:UnspecifiedMatching OMIM:604395 MLH3 skos:exactMatch ncbigene:27030 semapv:UnspecifiedMatching OMIM:604396 SETDB1 skos:exactMatch UMLS:C1335812 semapv:UnspecifiedMatching -OMIM:604396 SETDB1 skos:exactMatch hgnc:SETDB1 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:10761 semapv:UnspecifiedMatching +OMIM:604396 SETDB1 skos:exactMatch hgnc.symbol:SETDB1 semapv:UnspecifiedMatching OMIM:604396 SETDB1 skos:exactMatch ncbigene:9869 semapv:UnspecifiedMatching -OMIM:604397 GNA14 skos:exactMatch hgnc:GNA14 semapv:UnspecifiedMatching +OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:4382 semapv:UnspecifiedMatching +OMIM:604397 GNA14 skos:exactMatch hgnc.symbol:GNA14 semapv:UnspecifiedMatching OMIM:604397 GNA14 skos:exactMatch ncbigene:9630 semapv:UnspecifiedMatching -OMIM:604398 SCGB2A1 skos:exactMatch hgnc:SCGB2A1 semapv:UnspecifiedMatching +OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:7051 semapv:UnspecifiedMatching +OMIM:604398 SCGB2A1 skos:exactMatch hgnc.symbol:SCGB2A1 semapv:UnspecifiedMatching OMIM:604398 SCGB2A1 skos:exactMatch ncbigene:4246 semapv:UnspecifiedMatching -OMIM:604399 PPP1R1B skos:exactMatch hgnc:PPP1R1B semapv:UnspecifiedMatching +OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:9287 semapv:UnspecifiedMatching +OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:PPP1R1B semapv:UnspecifiedMatching OMIM:604399 PPP1R1B skos:exactMatch ncbigene:84152 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1539863 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching -OMIM:604402 ST3GAL5 skos:exactMatch hgnc:ST3GAL5 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:10872 semapv:UnspecifiedMatching +OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:ST3GAL5 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch ncbigene:8869 semapv:UnspecifiedMatching +OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C1858673 semapv:UnspecifiedMatching OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch UMLS:C2751756 semapv:UnspecifiedMatching -OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 skos:exactMatch orphanet.ordo:36387 semapv:UnspecifiedMatching -OMIM:604404 GPC6 skos:exactMatch hgnc:GPC6 semapv:UnspecifiedMatching +OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:4454 semapv:UnspecifiedMatching +OMIM:604404 GPC6 skos:exactMatch hgnc.symbol:GPC6 semapv:UnspecifiedMatching OMIM:604404 GPC6 skos:exactMatch ncbigene:10082 semapv:UnspecifiedMatching -OMIM:604405 SIGLEC6 skos:exactMatch hgnc:SIGLEC6 semapv:UnspecifiedMatching +OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:10875 semapv:UnspecifiedMatching +OMIM:604405 SIGLEC6 skos:exactMatch hgnc.symbol:SIGLEC6 semapv:UnspecifiedMatching OMIM:604405 SIGLEC6 skos:exactMatch ncbigene:946 semapv:UnspecifiedMatching -OMIM:604406 GNA13 skos:exactMatch hgnc:GNA13 semapv:UnspecifiedMatching +OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:4381 semapv:UnspecifiedMatching +OMIM:604406 GNA13 skos:exactMatch hgnc.symbol:GNA13 semapv:UnspecifiedMatching OMIM:604406 GNA13 skos:exactMatch ncbigene:10672 semapv:UnspecifiedMatching -OMIM:604407 LETM1 skos:exactMatch hgnc:LETM1 semapv:UnspecifiedMatching +OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:6556 semapv:UnspecifiedMatching +OMIM:604407 LETM1 skos:exactMatch hgnc.symbol:LETM1 semapv:UnspecifiedMatching OMIM:604407 LETM1 skos:exactMatch ncbigene:3954 semapv:UnspecifiedMatching -OMIM:604409 GMEB1 skos:exactMatch hgnc:GMEB1 semapv:UnspecifiedMatching +OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:4370 semapv:UnspecifiedMatching +OMIM:604409 GMEB1 skos:exactMatch hgnc.symbol:GMEB1 semapv:UnspecifiedMatching OMIM:604409 GMEB1 skos:exactMatch ncbigene:10691 semapv:UnspecifiedMatching -OMIM:604410 SIGLEC7 skos:exactMatch hgnc:SIGLEC7 semapv:UnspecifiedMatching +OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:10876 semapv:UnspecifiedMatching +OMIM:604410 SIGLEC7 skos:exactMatch hgnc.symbol:SIGLEC7 semapv:UnspecifiedMatching OMIM:604410 SIGLEC7 skos:exactMatch ncbigene:27036 semapv:UnspecifiedMatching OMIM:604411 INCENP skos:exactMatch UMLS:C1416432 semapv:UnspecifiedMatching -OMIM:604411 INCENP skos:exactMatch hgnc:INCENP semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch hgnc.symbol:6058 semapv:UnspecifiedMatching +OMIM:604411 INCENP skos:exactMatch hgnc.symbol:INCENP semapv:UnspecifiedMatching OMIM:604411 INCENP skos:exactMatch ncbigene:3619 semapv:UnspecifiedMatching -OMIM:604412 TCL6 skos:exactMatch hgnc:TCL6 semapv:UnspecifiedMatching +OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:13463 semapv:UnspecifiedMatching +OMIM:604412 TCL6 skos:exactMatch hgnc.symbol:TCL6 semapv:UnspecifiedMatching OMIM:604412 TCL6 skos:exactMatch ncbigene:27004 semapv:UnspecifiedMatching -OMIM:604414 POLR2F skos:exactMatch hgnc:POLR2F semapv:UnspecifiedMatching +OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:9193 semapv:UnspecifiedMatching +OMIM:604414 POLR2F skos:exactMatch hgnc.symbol:POLR2F semapv:UnspecifiedMatching OMIM:604414 POLR2F skos:exactMatch ncbigene:5435 semapv:UnspecifiedMatching -OMIM:604415 STEAP1 skos:exactMatch hgnc:STEAP1 semapv:UnspecifiedMatching +OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:11378 semapv:UnspecifiedMatching +OMIM:604415 STEAP1 skos:exactMatch hgnc.symbol:STEAP1 semapv:UnspecifiedMatching OMIM:604415 STEAP1 skos:exactMatch ncbigene:26872 semapv:UnspecifiedMatching -OMIM:604417 AFF4 skos:exactMatch hgnc:AFF4 semapv:UnspecifiedMatching +OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:17869 semapv:UnspecifiedMatching +OMIM:604417 AFF4 skos:exactMatch hgnc.symbol:AFF4 semapv:UnspecifiedMatching OMIM:604417 AFF4 skos:exactMatch ncbigene:27125 semapv:UnspecifiedMatching -OMIM:604418 GJB6 skos:exactMatch hgnc:GJB6 semapv:UnspecifiedMatching +OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:4288 semapv:UnspecifiedMatching +OMIM:604418 GJB6 skos:exactMatch hgnc.symbol:GJB6 semapv:UnspecifiedMatching OMIM:604418 GJB6 skos:exactMatch ncbigene:10804 semapv:UnspecifiedMatching -OMIM:604419 POLQ skos:exactMatch hgnc:POLQ semapv:UnspecifiedMatching +OMIM:604419 POLQ skos:exactMatch hgnc.symbol:9186 semapv:UnspecifiedMatching +OMIM:604419 POLQ skos:exactMatch hgnc.symbol:POLQ semapv:UnspecifiedMatching OMIM:604419 POLQ skos:exactMatch ncbigene:10721 semapv:UnspecifiedMatching -OMIM:604420 HHEX skos:exactMatch hgnc:HHEX semapv:UnspecifiedMatching +OMIM:604420 HHEX skos:exactMatch hgnc.symbol:4901 semapv:UnspecifiedMatching +OMIM:604420 HHEX skos:exactMatch hgnc.symbol:HHEX semapv:UnspecifiedMatching OMIM:604420 HHEX skos:exactMatch ncbigene:3087 semapv:UnspecifiedMatching -OMIM:604421 PDCL skos:exactMatch hgnc:PDCL semapv:UnspecifiedMatching +OMIM:604421 PDCL skos:exactMatch hgnc.symbol:8770 semapv:UnspecifiedMatching +OMIM:604421 PDCL skos:exactMatch hgnc.symbol:PDCL semapv:UnspecifiedMatching OMIM:604421 PDCL skos:exactMatch ncbigene:5082 semapv:UnspecifiedMatching -OMIM:604422 PNLIPRP1 skos:exactMatch hgnc:PNLIPRP1 semapv:UnspecifiedMatching +OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:9156 semapv:UnspecifiedMatching +OMIM:604422 PNLIPRP1 skos:exactMatch hgnc.symbol:PNLIPRP1 semapv:UnspecifiedMatching OMIM:604422 PNLIPRP1 skos:exactMatch ncbigene:5407 semapv:UnspecifiedMatching -OMIM:604423 PNLIPRP2 skos:exactMatch hgnc:PNLIPRP2 semapv:UnspecifiedMatching +OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:9157 semapv:UnspecifiedMatching +OMIM:604423 PNLIPRP2 skos:exactMatch hgnc.symbol:PNLIPRP2 semapv:UnspecifiedMatching OMIM:604423 PNLIPRP2 skos:exactMatch ncbigene:5408 semapv:UnspecifiedMatching -OMIM:604424 HIPK3 skos:exactMatch hgnc:HIPK3 semapv:UnspecifiedMatching +OMIM:604424 HIPK3 skos:exactMatch hgnc.symbol:4915 semapv:UnspecifiedMatching +OMIM:604424 HIPK3 skos:exactMatch hgnc.symbol:HIPK3 semapv:UnspecifiedMatching OMIM:604424 HIPK3 skos:exactMatch ncbigene:10114 semapv:UnspecifiedMatching -OMIM:604425 LHX8 skos:exactMatch hgnc:LHX8 semapv:UnspecifiedMatching +OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:28838 semapv:UnspecifiedMatching +OMIM:604425 LHX8 skos:exactMatch hgnc.symbol:LHX8 semapv:UnspecifiedMatching OMIM:604425 LHX8 skos:exactMatch ncbigene:431707 semapv:UnspecifiedMatching -OMIM:604426 CYP4F2 skos:exactMatch hgnc:CYP4F2 semapv:UnspecifiedMatching +OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:2645 semapv:UnspecifiedMatching +OMIM:604426 CYP4F2 skos:exactMatch hgnc.symbol:CYP4F2 semapv:UnspecifiedMatching OMIM:604426 CYP4F2 skos:exactMatch ncbigene:8529 semapv:UnspecifiedMatching OMIM:604427 SCN10A skos:exactMatch UMLS:C1419853 semapv:UnspecifiedMatching OMIM:604427 SCN10A skos:exactMatch UMLS:C3809893 semapv:UnspecifiedMatching -OMIM:604427 SCN10A skos:exactMatch hgnc:SCN10A semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:10582 semapv:UnspecifiedMatching +OMIM:604427 SCN10A skos:exactMatch hgnc.symbol:SCN10A semapv:UnspecifiedMatching OMIM:604427 SCN10A skos:exactMatch ncbigene:6336 semapv:UnspecifiedMatching -OMIM:604429 PRRG2 skos:exactMatch hgnc:PRRG2 semapv:UnspecifiedMatching +OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:9470 semapv:UnspecifiedMatching +OMIM:604429 PRRG2 skos:exactMatch hgnc.symbol:PRRG2 semapv:UnspecifiedMatching OMIM:604429 PRRG2 skos:exactMatch ncbigene:5639 semapv:UnspecifiedMatching -OMIM:604430 GNG7 skos:exactMatch hgnc:GNG7 semapv:UnspecifiedMatching +OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:4410 semapv:UnspecifiedMatching +OMIM:604430 GNG7 skos:exactMatch hgnc.symbol:GNG7 semapv:UnspecifiedMatching OMIM:604430 GNG7 skos:exactMatch ncbigene:2788 semapv:UnspecifiedMatching -OMIM:604433 KCNE3 skos:exactMatch hgnc:KCNE3 semapv:UnspecifiedMatching +OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:6243 semapv:UnspecifiedMatching +OMIM:604433 KCNE3 skos:exactMatch hgnc.symbol:KCNE3 semapv:UnspecifiedMatching OMIM:604433 KCNE3 skos:exactMatch ncbigene:10008 semapv:UnspecifiedMatching -OMIM:604434 KLK11 skos:exactMatch hgnc:KLK11 semapv:UnspecifiedMatching +OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:6359 semapv:UnspecifiedMatching +OMIM:604434 KLK11 skos:exactMatch hgnc.symbol:KLK11 semapv:UnspecifiedMatching OMIM:604434 KLK11 skos:exactMatch ncbigene:11012 semapv:UnspecifiedMatching -OMIM:604436 PLPBP skos:exactMatch hgnc:PLPBP semapv:UnspecifiedMatching +OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:9457 semapv:UnspecifiedMatching +OMIM:604436 PLPBP skos:exactMatch hgnc.symbol:PLPBP semapv:UnspecifiedMatching OMIM:604436 PLPBP skos:exactMatch ncbigene:11212 semapv:UnspecifiedMatching -OMIM:604437 SLC38A3 skos:exactMatch hgnc:SLC38A3 semapv:UnspecifiedMatching +OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:18044 semapv:UnspecifiedMatching +OMIM:604437 SLC38A3 skos:exactMatch hgnc.symbol:SLC38A3 semapv:UnspecifiedMatching OMIM:604437 SLC38A3 skos:exactMatch ncbigene:10991 semapv:UnspecifiedMatching -OMIM:604438 KLK7 skos:exactMatch hgnc:KLK7 semapv:UnspecifiedMatching +OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:6368 semapv:UnspecifiedMatching +OMIM:604438 KLK7 skos:exactMatch hgnc.symbol:KLK7 semapv:UnspecifiedMatching OMIM:604438 KLK7 skos:exactMatch ncbigene:5650 semapv:UnspecifiedMatching -OMIM:604439 GAB1 skos:exactMatch hgnc:GAB1 semapv:UnspecifiedMatching +OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:4066 semapv:UnspecifiedMatching +OMIM:604439 GAB1 skos:exactMatch hgnc.symbol:GAB1 semapv:UnspecifiedMatching OMIM:604439 GAB1 skos:exactMatch ncbigene:2549 semapv:UnspecifiedMatching -OMIM:604440 CIDEA skos:exactMatch hgnc:CIDEA semapv:UnspecifiedMatching +OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:1976 semapv:UnspecifiedMatching +OMIM:604440 CIDEA skos:exactMatch hgnc.symbol:CIDEA semapv:UnspecifiedMatching OMIM:604440 CIDEA skos:exactMatch ncbigene:1149 semapv:UnspecifiedMatching -OMIM:604441 CIDEB skos:exactMatch hgnc:CIDEB semapv:UnspecifiedMatching +OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:1977 semapv:UnspecifiedMatching +OMIM:604441 CIDEB skos:exactMatch hgnc.symbol:CIDEB semapv:UnspecifiedMatching OMIM:604441 CIDEB skos:exactMatch ncbigene:27141 semapv:UnspecifiedMatching -OMIM:604443 ACSL6 skos:exactMatch hgnc:ACSL6 semapv:UnspecifiedMatching +OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:16496 semapv:UnspecifiedMatching +OMIM:604443 ACSL6 skos:exactMatch hgnc.symbol:ACSL6 semapv:UnspecifiedMatching OMIM:604443 ACSL6 skos:exactMatch ncbigene:23305 semapv:UnspecifiedMatching OMIM:604444 BAMBI skos:exactMatch UMLS:C1428947 semapv:UnspecifiedMatching -OMIM:604444 BAMBI skos:exactMatch hgnc:BAMBI semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:30251 semapv:UnspecifiedMatching +OMIM:604444 BAMBI skos:exactMatch hgnc.symbol:BAMBI semapv:UnspecifiedMatching OMIM:604444 BAMBI skos:exactMatch ncbigene:25805 semapv:UnspecifiedMatching -OMIM:604445 PI13 skos:exactMatch hgnc:SERPINB13 semapv:UnspecifiedMatching +OMIM:604445 PI13 skos:exactMatch hgnc.symbol:8944 semapv:UnspecifiedMatching +OMIM:604445 PI13 skos:exactMatch hgnc.symbol:SERPINB13 semapv:UnspecifiedMatching OMIM:604445 PI13 skos:exactMatch ncbigene:5275 semapv:UnspecifiedMatching -OMIM:604446 PTER skos:exactMatch hgnc:PTER semapv:UnspecifiedMatching +OMIM:604446 PTER skos:exactMatch hgnc.symbol:9590 semapv:UnspecifiedMatching +OMIM:604446 PTER skos:exactMatch hgnc.symbol:PTER semapv:UnspecifiedMatching OMIM:604446 PTER skos:exactMatch ncbigene:9317 semapv:UnspecifiedMatching -OMIM:604447 GNB5 skos:exactMatch hgnc:GNB5 semapv:UnspecifiedMatching +OMIM:604447 GNB5 skos:exactMatch hgnc.symbol:4401 semapv:UnspecifiedMatching +OMIM:604447 GNB5 skos:exactMatch hgnc.symbol:GNB5 semapv:UnspecifiedMatching OMIM:604447 GNB5 skos:exactMatch ncbigene:10681 semapv:UnspecifiedMatching -OMIM:604448 CYTIP skos:exactMatch hgnc:CYTIP semapv:UnspecifiedMatching +OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:9506 semapv:UnspecifiedMatching +OMIM:604448 CYTIP skos:exactMatch hgnc.symbol:CYTIP semapv:UnspecifiedMatching OMIM:604448 CYTIP skos:exactMatch ncbigene:9595 semapv:UnspecifiedMatching -OMIM:604449 PSMD11 skos:exactMatch hgnc:PSMD11 semapv:UnspecifiedMatching +OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:9556 semapv:UnspecifiedMatching +OMIM:604449 PSMD11 skos:exactMatch hgnc.symbol:PSMD11 semapv:UnspecifiedMatching OMIM:604449 PSMD11 skos:exactMatch ncbigene:5717 semapv:UnspecifiedMatching -OMIM:604450 PSMD12 skos:exactMatch hgnc:PSMD12 semapv:UnspecifiedMatching +OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:9557 semapv:UnspecifiedMatching +OMIM:604450 PSMD12 skos:exactMatch hgnc.symbol:PSMD12 semapv:UnspecifiedMatching OMIM:604450 PSMD12 skos:exactMatch ncbigene:5718 semapv:UnspecifiedMatching -OMIM:604452 PSMD5 skos:exactMatch hgnc:PSMD5 semapv:UnspecifiedMatching +OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:9563 semapv:UnspecifiedMatching +OMIM:604452 PSMD5 skos:exactMatch hgnc.symbol:PSMD5 semapv:UnspecifiedMatching OMIM:604452 PSMD5 skos:exactMatch ncbigene:5711 semapv:UnspecifiedMatching -OMIM:604453 NR5A2 skos:exactMatch hgnc:NR5A2 semapv:UnspecifiedMatching +OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:7984 semapv:UnspecifiedMatching +OMIM:604453 NR5A2 skos:exactMatch hgnc.symbol:NR5A2 semapv:UnspecifiedMatching OMIM:604453 NR5A2 skos:exactMatch ncbigene:2494 semapv:UnspecifiedMatching -OMIM:604455 SARDH skos:exactMatch hgnc:SARDH semapv:UnspecifiedMatching +OMIM:604455 SARDH skos:exactMatch hgnc.symbol:10536 semapv:UnspecifiedMatching +OMIM:604455 SARDH skos:exactMatch hgnc.symbol:SARDH semapv:UnspecifiedMatching OMIM:604455 SARDH skos:exactMatch ncbigene:1757 semapv:UnspecifiedMatching -OMIM:604456 IFITM1 skos:exactMatch hgnc:IFITM1 semapv:UnspecifiedMatching +OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:5412 semapv:UnspecifiedMatching +OMIM:604456 IFITM1 skos:exactMatch hgnc.symbol:IFITM1 semapv:UnspecifiedMatching OMIM:604456 IFITM1 skos:exactMatch ncbigene:8519 semapv:UnspecifiedMatching -OMIM:604457 SP110 skos:exactMatch hgnc:SP110 semapv:UnspecifiedMatching +OMIM:604457 SP110 skos:exactMatch hgnc.symbol:5401 semapv:UnspecifiedMatching +OMIM:604457 SP110 skos:exactMatch hgnc.symbol:SP110 semapv:UnspecifiedMatching OMIM:604457 SP110 skos:exactMatch ncbigene:3431 semapv:UnspecifiedMatching OMIM:604459 IRAK3 skos:exactMatch UMLS:C1334136 semapv:UnspecifiedMatching OMIM:604459 IRAK3 skos:exactMatch UMLS:C4016888 semapv:UnspecifiedMatching -OMIM:604459 IRAK3 skos:exactMatch hgnc:IRAK3 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:17020 semapv:UnspecifiedMatching +OMIM:604459 IRAK3 skos:exactMatch hgnc.symbol:IRAK3 semapv:UnspecifiedMatching OMIM:604459 IRAK3 skos:exactMatch ncbigene:11213 semapv:UnspecifiedMatching -OMIM:604460 FAF1 skos:exactMatch hgnc:FAF1 semapv:UnspecifiedMatching +OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:3578 semapv:UnspecifiedMatching +OMIM:604460 FAF1 skos:exactMatch hgnc.symbol:FAF1 semapv:UnspecifiedMatching OMIM:604460 FAF1 skos:exactMatch ncbigene:11124 semapv:UnspecifiedMatching -OMIM:604461 HPV6AI1 skos:exactMatch hgnc:HPV6AI1 semapv:UnspecifiedMatching +OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:5168 semapv:UnspecifiedMatching +OMIM:604461 HPV6AI1 skos:exactMatch hgnc.symbol:HPV6AI1 semapv:UnspecifiedMatching OMIM:604461 HPV6AI1 skos:exactMatch ncbigene:3259 semapv:UnspecifiedMatching OMIM:604462 SEMA4C skos:exactMatch UMLS:C1419949 semapv:UnspecifiedMatching -OMIM:604462 SEMA4C skos:exactMatch hgnc:SEMA4C semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:10731 semapv:UnspecifiedMatching +OMIM:604462 SEMA4C skos:exactMatch hgnc.symbol:SEMA4C semapv:UnspecifiedMatching OMIM:604462 SEMA4C skos:exactMatch ncbigene:54910 semapv:UnspecifiedMatching -OMIM:604463 CD160 skos:exactMatch hgnc:CD160 semapv:UnspecifiedMatching +OMIM:604463 CD160 skos:exactMatch hgnc.symbol:17013 semapv:UnspecifiedMatching +OMIM:604463 CD160 skos:exactMatch hgnc.symbol:CD160 semapv:UnspecifiedMatching OMIM:604463 CD160 skos:exactMatch ncbigene:11126 semapv:UnspecifiedMatching -OMIM:604464 ITSN2 skos:exactMatch hgnc:ITSN2 semapv:UnspecifiedMatching +OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:6184 semapv:UnspecifiedMatching +OMIM:604464 ITSN2 skos:exactMatch hgnc.symbol:ITSN2 semapv:UnspecifiedMatching OMIM:604464 ITSN2 skos:exactMatch ncbigene:50618 semapv:UnspecifiedMatching -OMIM:604465 SH3GL2 skos:exactMatch hgnc:SH3GL2 semapv:UnspecifiedMatching +OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:10831 semapv:UnspecifiedMatching +OMIM:604465 SH3GL2 skos:exactMatch hgnc.symbol:SH3GL2 semapv:UnspecifiedMatching OMIM:604465 SH3GL2 skos:exactMatch ncbigene:6456 semapv:UnspecifiedMatching -OMIM:604466 METTL1 skos:exactMatch hgnc:METTL1 semapv:UnspecifiedMatching +OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:7030 semapv:UnspecifiedMatching +OMIM:604466 METTL1 skos:exactMatch hgnc.symbol:METTL1 semapv:UnspecifiedMatching OMIM:604466 METTL1 skos:exactMatch ncbigene:4234 semapv:UnspecifiedMatching -OMIM:604467 MMD skos:exactMatch hgnc:MMD semapv:UnspecifiedMatching +OMIM:604467 MMD skos:exactMatch hgnc.symbol:7153 semapv:UnspecifiedMatching +OMIM:604467 MMD skos:exactMatch hgnc.symbol:MMD semapv:UnspecifiedMatching OMIM:604467 MMD skos:exactMatch ncbigene:23531 semapv:UnspecifiedMatching -OMIM:604468 MAP3K6 skos:exactMatch hgnc:MAP3K6 semapv:UnspecifiedMatching +OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:6858 semapv:UnspecifiedMatching +OMIM:604468 MAP3K6 skos:exactMatch hgnc.symbol:MAP3K6 semapv:UnspecifiedMatching OMIM:604468 MAP3K6 skos:exactMatch ncbigene:9064 semapv:UnspecifiedMatching -OMIM:604469 EXOC5 skos:exactMatch hgnc:EXOC5 semapv:UnspecifiedMatching +OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:10696 semapv:UnspecifiedMatching +OMIM:604469 EXOC5 skos:exactMatch hgnc.symbol:EXOC5 semapv:UnspecifiedMatching OMIM:604469 EXOC5 skos:exactMatch ncbigene:10640 semapv:UnspecifiedMatching -OMIM:604470 CD2BP2 skos:exactMatch hgnc:CD2BP2 semapv:UnspecifiedMatching +OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:1656 semapv:UnspecifiedMatching +OMIM:604470 CD2BP2 skos:exactMatch hgnc.symbol:CD2BP2 semapv:UnspecifiedMatching OMIM:604470 CD2BP2 skos:exactMatch ncbigene:10421 semapv:UnspecifiedMatching -OMIM:604471 SLC1A7 skos:exactMatch hgnc:SLC1A7 semapv:UnspecifiedMatching +OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:10945 semapv:UnspecifiedMatching +OMIM:604471 SLC1A7 skos:exactMatch hgnc.symbol:SLC1A7 semapv:UnspecifiedMatching OMIM:604471 SLC1A7 skos:exactMatch ncbigene:6512 semapv:UnspecifiedMatching -OMIM:604472 TNFSF13 skos:exactMatch hgnc:TNFSF13 semapv:UnspecifiedMatching +OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:11928 semapv:UnspecifiedMatching +OMIM:604472 TNFSF13 skos:exactMatch hgnc.symbol:TNFSF13 semapv:UnspecifiedMatching OMIM:604472 TNFSF13 skos:exactMatch ncbigene:8741 semapv:UnspecifiedMatching OMIM:604473 GRM1 skos:exactMatch UMLS:C1333711 semapv:UnspecifiedMatching OMIM:604473 GRM1 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching OMIM:604473 GRM1 skos:exactMatch UMLS:C4521563 semapv:UnspecifiedMatching -OMIM:604473 GRM1 skos:exactMatch hgnc:GRM1 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:4593 semapv:UnspecifiedMatching +OMIM:604473 GRM1 skos:exactMatch hgnc.symbol:GRM1 semapv:UnspecifiedMatching OMIM:604473 GRM1 skos:exactMatch ncbigene:2911 semapv:UnspecifiedMatching -OMIM:604475 RTN4 skos:exactMatch hgnc:RTN4 semapv:UnspecifiedMatching +OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:14085 semapv:UnspecifiedMatching +OMIM:604475 RTN4 skos:exactMatch hgnc.symbol:RTN4 semapv:UnspecifiedMatching OMIM:604475 RTN4 skos:exactMatch ncbigene:57142 semapv:UnspecifiedMatching -OMIM:604477 CBX3 skos:exactMatch hgnc:CBX3 semapv:UnspecifiedMatching +OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:1553 semapv:UnspecifiedMatching +OMIM:604477 CBX3 skos:exactMatch hgnc.symbol:CBX3 semapv:UnspecifiedMatching OMIM:604477 CBX3 skos:exactMatch ncbigene:11335 semapv:UnspecifiedMatching -OMIM:604478 CBX5 skos:exactMatch hgnc:CBX5 semapv:UnspecifiedMatching +OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:1555 semapv:UnspecifiedMatching +OMIM:604478 CBX5 skos:exactMatch hgnc.symbol:CBX5 semapv:UnspecifiedMatching OMIM:604478 CBX5 skos:exactMatch ncbigene:23468 semapv:UnspecifiedMatching -OMIM:604479 SIRT1 skos:exactMatch hgnc:SIRT1 semapv:UnspecifiedMatching +OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:14929 semapv:UnspecifiedMatching +OMIM:604479 SIRT1 skos:exactMatch hgnc.symbol:SIRT1 semapv:UnspecifiedMatching OMIM:604479 SIRT1 skos:exactMatch ncbigene:23411 semapv:UnspecifiedMatching -OMIM:604480 SIRT2 skos:exactMatch hgnc:SIRT2 semapv:UnspecifiedMatching +OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:10886 semapv:UnspecifiedMatching +OMIM:604480 SIRT2 skos:exactMatch hgnc.symbol:SIRT2 semapv:UnspecifiedMatching OMIM:604480 SIRT2 skos:exactMatch ncbigene:22933 semapv:UnspecifiedMatching -OMIM:604481 SIRT3 skos:exactMatch hgnc:SIRT3 semapv:UnspecifiedMatching +OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:14931 semapv:UnspecifiedMatching +OMIM:604481 SIRT3 skos:exactMatch hgnc.symbol:SIRT3 semapv:UnspecifiedMatching OMIM:604481 SIRT3 skos:exactMatch ncbigene:23410 semapv:UnspecifiedMatching -OMIM:604482 SIRT4 skos:exactMatch hgnc:SIRT4 semapv:UnspecifiedMatching +OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:14932 semapv:UnspecifiedMatching +OMIM:604482 SIRT4 skos:exactMatch hgnc.symbol:SIRT4 semapv:UnspecifiedMatching OMIM:604482 SIRT4 skos:exactMatch ncbigene:23409 semapv:UnspecifiedMatching -OMIM:604483 SIRT5 skos:exactMatch hgnc:SIRT5 semapv:UnspecifiedMatching +OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:14933 semapv:UnspecifiedMatching +OMIM:604483 SIRT5 skos:exactMatch hgnc.symbol:SIRT5 semapv:UnspecifiedMatching OMIM:604483 SIRT5 skos:exactMatch ncbigene:23408 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:435819 semapv:UnspecifiedMatching +OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch Orphanet:90117 semapv:UnspecifiedMatching OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch UMLS:C1858338 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch orphanet.ordo:435819 semapv:UnspecifiedMatching -OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia skos:exactMatch orphanet.ordo:90117 semapv:UnspecifiedMatching -OMIM:604485 NR2E3 skos:exactMatch hgnc:NR2E3 semapv:UnspecifiedMatching +OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:7974 semapv:UnspecifiedMatching +OMIM:604485 NR2E3 skos:exactMatch hgnc.symbol:NR2E3 semapv:UnspecifiedMatching OMIM:604485 NR2E3 skos:exactMatch ncbigene:10002 semapv:UnspecifiedMatching -OMIM:604486 PPIF skos:exactMatch hgnc:PPIF semapv:UnspecifiedMatching +OMIM:604486 PPIF skos:exactMatch hgnc.symbol:9259 semapv:UnspecifiedMatching +OMIM:604486 PPIF skos:exactMatch hgnc.symbol:PPIF semapv:UnspecifiedMatching OMIM:604486 PPIF skos:exactMatch ncbigene:10105 semapv:UnspecifiedMatching -OMIM:604487 OTOG skos:exactMatch hgnc:OTOG semapv:UnspecifiedMatching +OMIM:604487 OTOG skos:exactMatch hgnc.symbol:8516 semapv:UnspecifiedMatching +OMIM:604487 OTOG skos:exactMatch hgnc.symbol:OTOG semapv:UnspecifiedMatching OMIM:604487 OTOG skos:exactMatch ncbigene:340990 semapv:UnspecifiedMatching -OMIM:604488 TCAP skos:exactMatch hgnc:TCAP semapv:UnspecifiedMatching +OMIM:604488 TCAP skos:exactMatch hgnc.symbol:11610 semapv:UnspecifiedMatching +OMIM:604488 TCAP skos:exactMatch hgnc.symbol:TCAP semapv:UnspecifiedMatching OMIM:604488 TCAP skos:exactMatch ncbigene:8557 semapv:UnspecifiedMatching -OMIM:604489 AMACR skos:exactMatch hgnc:AMACR semapv:UnspecifiedMatching +OMIM:604489 AMACR skos:exactMatch hgnc.symbol:451 semapv:UnspecifiedMatching +OMIM:604489 AMACR skos:exactMatch hgnc.symbol:AMACR semapv:UnspecifiedMatching OMIM:604489 AMACR skos:exactMatch ncbigene:23600 semapv:UnspecifiedMatching -OMIM:604490 SACS skos:exactMatch hgnc:SACS semapv:UnspecifiedMatching +OMIM:604490 SACS skos:exactMatch hgnc.symbol:10519 semapv:UnspecifiedMatching +OMIM:604490 SACS skos:exactMatch hgnc.symbol:SACS semapv:UnspecifiedMatching OMIM:604490 SACS skos:exactMatch ncbigene:26278 semapv:UnspecifiedMatching OMIM:604491 CBLB skos:exactMatch UMLS:C1332672 semapv:UnspecifiedMatching -OMIM:604491 CBLB skos:exactMatch hgnc:CBLB semapv:UnspecifiedMatching +OMIM:604491 CBLB skos:exactMatch hgnc.symbol:1542 semapv:UnspecifiedMatching +OMIM:604491 CBLB skos:exactMatch hgnc.symbol:CBLB semapv:UnspecifiedMatching OMIM:604491 CBLB skos:exactMatch ncbigene:868 semapv:UnspecifiedMatching OMIM:604492 VDAC1 skos:exactMatch UMLS:C1336930 semapv:UnspecifiedMatching -OMIM:604492 VDAC1 skos:exactMatch hgnc:VDAC1 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:12669 semapv:UnspecifiedMatching +OMIM:604492 VDAC1 skos:exactMatch hgnc.symbol:VDAC1 semapv:UnspecifiedMatching OMIM:604492 VDAC1 skos:exactMatch ncbigene:7416 semapv:UnspecifiedMatching -OMIM:604493 GJB5 skos:exactMatch hgnc:GJB5 semapv:UnspecifiedMatching +OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:4287 semapv:UnspecifiedMatching +OMIM:604493 GJB5 skos:exactMatch hgnc.symbol:GJB5 semapv:UnspecifiedMatching OMIM:604493 GJB5 skos:exactMatch ncbigene:2709 semapv:UnspecifiedMatching -OMIM:604494 IL18R1 skos:exactMatch hgnc:IL18R1 semapv:UnspecifiedMatching +OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:5988 semapv:UnspecifiedMatching +OMIM:604494 IL18R1 skos:exactMatch hgnc.symbol:IL18R1 semapv:UnspecifiedMatching OMIM:604494 IL18R1 skos:exactMatch ncbigene:8809 semapv:UnspecifiedMatching OMIM:604495 NFKBIB skos:exactMatch UMLS:C1417709 semapv:UnspecifiedMatching -OMIM:604495 NFKBIB skos:exactMatch hgnc:NFKBIB semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:7798 semapv:UnspecifiedMatching +OMIM:604495 NFKBIB skos:exactMatch hgnc.symbol:NFKBIB semapv:UnspecifiedMatching OMIM:604495 NFKBIB skos:exactMatch ncbigene:4793 semapv:UnspecifiedMatching -OMIM:604496 NKIRAS1 skos:exactMatch hgnc:NKIRAS1 semapv:UnspecifiedMatching +OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:17899 semapv:UnspecifiedMatching +OMIM:604496 NKIRAS1 skos:exactMatch hgnc.symbol:NKIRAS1 semapv:UnspecifiedMatching OMIM:604496 NKIRAS1 skos:exactMatch ncbigene:28512 semapv:UnspecifiedMatching -OMIM:604497 NKIRAS2 skos:exactMatch hgnc:NKIRAS2 semapv:UnspecifiedMatching +OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:17898 semapv:UnspecifiedMatching +OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:NKIRAS2 semapv:UnspecifiedMatching OMIM:604497 NKIRAS2 skos:exactMatch ncbigene:28511 semapv:UnspecifiedMatching -OMIM:604500 ZNHIT3 skos:exactMatch hgnc:ZNHIT3 semapv:UnspecifiedMatching +OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:12309 semapv:UnspecifiedMatching +OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:ZNHIT3 semapv:UnspecifiedMatching OMIM:604500 ZNHIT3 skos:exactMatch ncbigene:9326 semapv:UnspecifiedMatching -OMIM:604501 TRIP4 skos:exactMatch hgnc:TRIP4 semapv:UnspecifiedMatching +OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:12310 semapv:UnspecifiedMatching +OMIM:604501 TRIP4 skos:exactMatch hgnc.symbol:TRIP4 semapv:UnspecifiedMatching OMIM:604501 TRIP4 skos:exactMatch ncbigene:9325 semapv:UnspecifiedMatching -OMIM:604502 HMGN3 skos:exactMatch hgnc:HMGN3 semapv:UnspecifiedMatching +OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:12312 semapv:UnspecifiedMatching +OMIM:604502 HMGN3 skos:exactMatch hgnc.symbol:HMGN3 semapv:UnspecifiedMatching OMIM:604502 HMGN3 skos:exactMatch ncbigene:9324 semapv:UnspecifiedMatching -OMIM:604503 JMJD1C skos:exactMatch hgnc:JMJD1C semapv:UnspecifiedMatching +OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:12313 semapv:UnspecifiedMatching +OMIM:604503 JMJD1C skos:exactMatch hgnc.symbol:JMJD1C semapv:UnspecifiedMatching OMIM:604503 JMJD1C skos:exactMatch ncbigene:221037 semapv:UnspecifiedMatching -OMIM:604504 TRIP10 skos:exactMatch hgnc:TRIP10 semapv:UnspecifiedMatching +OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:12304 semapv:UnspecifiedMatching +OMIM:604504 TRIP10 skos:exactMatch hgnc.symbol:TRIP10 semapv:UnspecifiedMatching OMIM:604504 TRIP10 skos:exactMatch ncbigene:9322 semapv:UnspecifiedMatching -OMIM:604505 TRIP11 skos:exactMatch hgnc:TRIP11 semapv:UnspecifiedMatching +OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:12305 semapv:UnspecifiedMatching +OMIM:604505 TRIP11 skos:exactMatch hgnc.symbol:TRIP11 semapv:UnspecifiedMatching OMIM:604505 TRIP11 skos:exactMatch ncbigene:9321 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch UMLS:C1421147 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching -OMIM:604506 TRIP12 skos:exactMatch hgnc:TRIP12 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:12306 semapv:UnspecifiedMatching +OMIM:604506 TRIP12 skos:exactMatch hgnc.symbol:TRIP12 semapv:UnspecifiedMatching OMIM:604506 TRIP12 skos:exactMatch ncbigene:9320 semapv:UnspecifiedMatching OMIM:604507 TRIP13 skos:exactMatch UMLS:C1421148 semapv:UnspecifiedMatching OMIM:604507 TRIP13 skos:exactMatch UMLS:C4539839 semapv:UnspecifiedMatching OMIM:604507 TRIP13 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching -OMIM:604507 TRIP13 skos:exactMatch hgnc:TRIP13 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:12307 semapv:UnspecifiedMatching +OMIM:604507 TRIP13 skos:exactMatch hgnc.symbol:TRIP13 semapv:UnspecifiedMatching OMIM:604507 TRIP13 skos:exactMatch ncbigene:9319 semapv:UnspecifiedMatching OMIM:604508 COPS2 skos:exactMatch UMLS:C1539124 semapv:UnspecifiedMatching -OMIM:604508 COPS2 skos:exactMatch hgnc:COPS2 semapv:UnspecifiedMatching +OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:30747 semapv:UnspecifiedMatching +OMIM:604508 COPS2 skos:exactMatch hgnc.symbol:COPS2 semapv:UnspecifiedMatching OMIM:604508 COPS2 skos:exactMatch ncbigene:9318 semapv:UnspecifiedMatching -OMIM:604509 IL18RAP skos:exactMatch hgnc:IL18RAP semapv:UnspecifiedMatching +OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:5989 semapv:UnspecifiedMatching +OMIM:604509 IL18RAP skos:exactMatch hgnc.symbol:IL18RAP semapv:UnspecifiedMatching OMIM:604509 IL18RAP skos:exactMatch ncbigene:8807 semapv:UnspecifiedMatching -OMIM:604510 HYAL4 skos:exactMatch hgnc:HYAL4 semapv:UnspecifiedMatching +OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:5323 semapv:UnspecifiedMatching +OMIM:604510 HYAL4 skos:exactMatch hgnc.symbol:HYAL4 semapv:UnspecifiedMatching OMIM:604510 HYAL4 skos:exactMatch ncbigene:23553 semapv:UnspecifiedMatching -OMIM:604511 CBX1 skos:exactMatch hgnc:CBX1 semapv:UnspecifiedMatching +OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:1551 semapv:UnspecifiedMatching +OMIM:604511 CBX1 skos:exactMatch hgnc.symbol:CBX1 semapv:UnspecifiedMatching OMIM:604511 CBX1 skos:exactMatch ncbigene:10951 semapv:UnspecifiedMatching -OMIM:604512 IL1RL2 skos:exactMatch hgnc:IL1RL2 semapv:UnspecifiedMatching +OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:5999 semapv:UnspecifiedMatching +OMIM:604512 IL1RL2 skos:exactMatch hgnc.symbol:IL1RL2 semapv:UnspecifiedMatching OMIM:604512 IL1RL2 skos:exactMatch ncbigene:8808 semapv:UnspecifiedMatching -OMIM:604513 CD84 skos:exactMatch hgnc:CD84 semapv:UnspecifiedMatching +OMIM:604513 CD84 skos:exactMatch hgnc.symbol:1704 semapv:UnspecifiedMatching +OMIM:604513 CD84 skos:exactMatch hgnc.symbol:CD84 semapv:UnspecifiedMatching OMIM:604513 CD84 skos:exactMatch ncbigene:8832 semapv:UnspecifiedMatching -OMIM:604514 SH2D2A skos:exactMatch hgnc:SH2D2A semapv:UnspecifiedMatching +OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:10821 semapv:UnspecifiedMatching +OMIM:604514 SH2D2A skos:exactMatch hgnc.symbol:SH2D2A semapv:UnspecifiedMatching OMIM:604514 SH2D2A skos:exactMatch ncbigene:9047 semapv:UnspecifiedMatching -OMIM:604515 BLNK skos:exactMatch hgnc:BLNK semapv:UnspecifiedMatching +OMIM:604515 BLNK skos:exactMatch hgnc.symbol:14211 semapv:UnspecifiedMatching +OMIM:604515 BLNK skos:exactMatch hgnc.symbol:BLNK semapv:UnspecifiedMatching OMIM:604515 BLNK skos:exactMatch ncbigene:29760 semapv:UnspecifiedMatching -OMIM:604516 IGSF2 skos:exactMatch hgnc:CD101 semapv:UnspecifiedMatching +OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:5949 semapv:UnspecifiedMatching +OMIM:604516 IGSF2 skos:exactMatch hgnc.symbol:CD101 semapv:UnspecifiedMatching OMIM:604516 IGSF2 skos:exactMatch ncbigene:9398 semapv:UnspecifiedMatching -OMIM:604517 PPARGC1A skos:exactMatch hgnc:PPARGC1A semapv:UnspecifiedMatching +OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:9237 semapv:UnspecifiedMatching +OMIM:604517 PPARGC1A skos:exactMatch hgnc.symbol:PPARGC1A semapv:UnspecifiedMatching OMIM:604517 PPARGC1A skos:exactMatch ncbigene:10891 semapv:UnspecifiedMatching -OMIM:604518 GRAP2 skos:exactMatch hgnc:GRAP2 semapv:UnspecifiedMatching +OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:4563 semapv:UnspecifiedMatching +OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:GRAP2 semapv:UnspecifiedMatching OMIM:604518 GRAP2 skos:exactMatch ncbigene:9402 semapv:UnspecifiedMatching -OMIM:604520 TNFSF14 skos:exactMatch hgnc:TNFSF14 semapv:UnspecifiedMatching +OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:11930 semapv:UnspecifiedMatching +OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:TNFSF14 semapv:UnspecifiedMatching OMIM:604520 TNFSF14 skos:exactMatch ncbigene:8740 semapv:UnspecifiedMatching -OMIM:604521 HAAO skos:exactMatch hgnc:HAAO semapv:UnspecifiedMatching +OMIM:604521 HAAO skos:exactMatch hgnc.symbol:4796 semapv:UnspecifiedMatching +OMIM:604521 HAAO skos:exactMatch hgnc.symbol:HAAO semapv:UnspecifiedMatching OMIM:604521 HAAO skos:exactMatch ncbigene:23498 semapv:UnspecifiedMatching -OMIM:604522 DEFA3 skos:exactMatch hgnc:DEFA3 semapv:UnspecifiedMatching +OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:2762 semapv:UnspecifiedMatching +OMIM:604522 DEFA3 skos:exactMatch hgnc.symbol:DEFA3 semapv:UnspecifiedMatching OMIM:604522 DEFA3 skos:exactMatch ncbigene:1668 semapv:UnspecifiedMatching -OMIM:604523 CELSR1 skos:exactMatch hgnc:CELSR1 semapv:UnspecifiedMatching +OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:1850 semapv:UnspecifiedMatching +OMIM:604523 CELSR1 skos:exactMatch hgnc.symbol:CELSR1 semapv:UnspecifiedMatching OMIM:604523 CELSR1 skos:exactMatch ncbigene:9620 semapv:UnspecifiedMatching -OMIM:604524 LY75 skos:exactMatch hgnc:LY75 semapv:UnspecifiedMatching +OMIM:604524 LY75 skos:exactMatch hgnc.symbol:6729 semapv:UnspecifiedMatching +OMIM:604524 LY75 skos:exactMatch hgnc.symbol:LY75 semapv:UnspecifiedMatching OMIM:604524 LY75 skos:exactMatch ncbigene:4065 semapv:UnspecifiedMatching -OMIM:604525 HRH3 skos:exactMatch hgnc:HRH3 semapv:UnspecifiedMatching +OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:5184 semapv:UnspecifiedMatching +OMIM:604525 HRH3 skos:exactMatch hgnc.symbol:HRH3 semapv:UnspecifiedMatching OMIM:604525 HRH3 skos:exactMatch ncbigene:11255 semapv:UnspecifiedMatching OMIM:604526 IDH3B skos:exactMatch UMLS:C1415879 semapv:UnspecifiedMatching OMIM:604526 IDH3B skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching -OMIM:604526 IDH3B skos:exactMatch hgnc:IDH3B semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:5385 semapv:UnspecifiedMatching +OMIM:604526 IDH3B skos:exactMatch hgnc.symbol:IDH3B semapv:UnspecifiedMatching OMIM:604526 IDH3B skos:exactMatch ncbigene:3420 semapv:UnspecifiedMatching -OMIM:604527 KCNH3 skos:exactMatch hgnc:KCNH3 semapv:UnspecifiedMatching +OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:6252 semapv:UnspecifiedMatching +OMIM:604527 KCNH3 skos:exactMatch hgnc.symbol:KCNH3 semapv:UnspecifiedMatching OMIM:604527 KCNH3 skos:exactMatch ncbigene:23416 semapv:UnspecifiedMatching -OMIM:604528 KCNH4 skos:exactMatch hgnc:KCNH4 semapv:UnspecifiedMatching +OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:6253 semapv:UnspecifiedMatching +OMIM:604528 KCNH4 skos:exactMatch hgnc.symbol:KCNH4 semapv:UnspecifiedMatching OMIM:604528 KCNH4 skos:exactMatch ncbigene:23415 semapv:UnspecifiedMatching OMIM:604529 OTP skos:exactMatch UMLS:C1418198 semapv:UnspecifiedMatching -OMIM:604529 OTP skos:exactMatch hgnc:OTP semapv:UnspecifiedMatching +OMIM:604529 OTP skos:exactMatch hgnc.symbol:8518 semapv:UnspecifiedMatching +OMIM:604529 OTP skos:exactMatch hgnc.symbol:OTP semapv:UnspecifiedMatching OMIM:604529 OTP skos:exactMatch ncbigene:23440 semapv:UnspecifiedMatching -OMIM:604530 NCR1 skos:exactMatch hgnc:NCR1 semapv:UnspecifiedMatching +OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:6731 semapv:UnspecifiedMatching +OMIM:604530 NCR1 skos:exactMatch hgnc.symbol:NCR1 semapv:UnspecifiedMatching OMIM:604530 NCR1 skos:exactMatch ncbigene:9437 semapv:UnspecifiedMatching -OMIM:604531 NCR2 skos:exactMatch hgnc:NCR2 semapv:UnspecifiedMatching +OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:6732 semapv:UnspecifiedMatching +OMIM:604531 NCR2 skos:exactMatch hgnc.symbol:NCR2 semapv:UnspecifiedMatching OMIM:604531 NCR2 skos:exactMatch ncbigene:9436 semapv:UnspecifiedMatching -OMIM:604532 PKD2L1 skos:exactMatch hgnc:PKD2L1 semapv:UnspecifiedMatching +OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:9011 semapv:UnspecifiedMatching +OMIM:604532 PKD2L1 skos:exactMatch hgnc.symbol:PKD2L1 semapv:UnspecifiedMatching OMIM:604532 PKD2L1 skos:exactMatch ncbigene:9033 semapv:UnspecifiedMatching -OMIM:604533 ISG20 skos:exactMatch hgnc:ISG20 semapv:UnspecifiedMatching +OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:6130 semapv:UnspecifiedMatching +OMIM:604533 ISG20 skos:exactMatch hgnc.symbol:ISG20 semapv:UnspecifiedMatching OMIM:604533 ISG20 skos:exactMatch ncbigene:3669 semapv:UnspecifiedMatching -OMIM:604534 CD83 skos:exactMatch hgnc:CD83 semapv:UnspecifiedMatching +OMIM:604534 CD83 skos:exactMatch hgnc.symbol:1703 semapv:UnspecifiedMatching +OMIM:604534 CD83 skos:exactMatch hgnc.symbol:CD83 semapv:UnspecifiedMatching OMIM:604534 CD83 skos:exactMatch ncbigene:9308 semapv:UnspecifiedMatching -OMIM:604535 KIFC3 skos:exactMatch hgnc:KIFC3 semapv:UnspecifiedMatching +OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:6326 semapv:UnspecifiedMatching +OMIM:604535 KIFC3 skos:exactMatch hgnc.symbol:KIFC3 semapv:UnspecifiedMatching OMIM:604535 KIFC3 skos:exactMatch ncbigene:3801 semapv:UnspecifiedMatching +OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch Orphanet:158668 semapv:UnspecifiedMatching OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch UMLS:C1858302 semapv:UnspecifiedMatching -OMIM:604536 ectodermal dysplasia/skin fragility syndrome skos:exactMatch orphanet.ordo:158668 semapv:UnspecifiedMatching -OMIM:604538 KIF2C skos:exactMatch hgnc:KIF2C semapv:UnspecifiedMatching +OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:6393 semapv:UnspecifiedMatching +OMIM:604538 KIF2C skos:exactMatch hgnc.symbol:KIF2C semapv:UnspecifiedMatching OMIM:604538 KIF2C skos:exactMatch ncbigene:11004 semapv:UnspecifiedMatching -OMIM:604539 ADAMTS2 skos:exactMatch hgnc:ADAMTS2 semapv:UnspecifiedMatching +OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:218 semapv:UnspecifiedMatching +OMIM:604539 ADAMTS2 skos:exactMatch hgnc.symbol:ADAMTS2 semapv:UnspecifiedMatching OMIM:604539 ADAMTS2 skos:exactMatch ncbigene:9509 semapv:UnspecifiedMatching -OMIM:604540 KRT36 skos:exactMatch hgnc:KRT36 semapv:UnspecifiedMatching +OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:6454 semapv:UnspecifiedMatching +OMIM:604540 KRT36 skos:exactMatch hgnc.symbol:KRT36 semapv:UnspecifiedMatching OMIM:604540 KRT36 skos:exactMatch ncbigene:8689 semapv:UnspecifiedMatching -OMIM:604541 KRT37 skos:exactMatch hgnc:KRT37 semapv:UnspecifiedMatching +OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:6455 semapv:UnspecifiedMatching +OMIM:604541 KRT37 skos:exactMatch hgnc.symbol:KRT37 semapv:UnspecifiedMatching OMIM:604541 KRT37 skos:exactMatch ncbigene:8688 semapv:UnspecifiedMatching -OMIM:604542 KRT38 skos:exactMatch hgnc:KRT38 semapv:UnspecifiedMatching +OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:6456 semapv:UnspecifiedMatching +OMIM:604542 KRT38 skos:exactMatch hgnc.symbol:KRT38 semapv:UnspecifiedMatching OMIM:604542 KRT38 skos:exactMatch ncbigene:8687 semapv:UnspecifiedMatching -OMIM:604543 LIMD1 skos:exactMatch hgnc:LIMD1 semapv:UnspecifiedMatching +OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:6612 semapv:UnspecifiedMatching +OMIM:604543 LIMD1 skos:exactMatch hgnc.symbol:LIMD1 semapv:UnspecifiedMatching OMIM:604543 LIMD1 skos:exactMatch ncbigene:8994 semapv:UnspecifiedMatching -OMIM:604544 LARS2 skos:exactMatch hgnc:LARS2 semapv:UnspecifiedMatching +OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:17095 semapv:UnspecifiedMatching +OMIM:604544 LARS2 skos:exactMatch hgnc.symbol:LARS2 semapv:UnspecifiedMatching OMIM:604544 LARS2 skos:exactMatch ncbigene:23395 semapv:UnspecifiedMatching -OMIM:604545 KPNA5 skos:exactMatch hgnc:KPNA5 semapv:UnspecifiedMatching +OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:6398 semapv:UnspecifiedMatching +OMIM:604545 KPNA5 skos:exactMatch hgnc.symbol:KPNA5 semapv:UnspecifiedMatching OMIM:604545 KPNA5 skos:exactMatch ncbigene:3841 semapv:UnspecifiedMatching -OMIM:604546 TONSL skos:exactMatch hgnc:TONSL semapv:UnspecifiedMatching +OMIM:604546 TONSL skos:exactMatch hgnc.symbol:7801 semapv:UnspecifiedMatching +OMIM:604546 TONSL skos:exactMatch hgnc.symbol:TONSL semapv:UnspecifiedMatching OMIM:604546 TONSL skos:exactMatch ncbigene:4796 semapv:UnspecifiedMatching OMIM:604548 NFKBIE skos:exactMatch UMLS:C1417710 semapv:UnspecifiedMatching -OMIM:604548 NFKBIE skos:exactMatch hgnc:NFKBIE semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:7799 semapv:UnspecifiedMatching +OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:NFKBIE semapv:UnspecifiedMatching OMIM:604548 NFKBIE skos:exactMatch ncbigene:4794 semapv:UnspecifiedMatching -OMIM:604550 DENR skos:exactMatch hgnc:DENR semapv:UnspecifiedMatching +OMIM:604550 DENR skos:exactMatch hgnc.symbol:2769 semapv:UnspecifiedMatching +OMIM:604550 DENR skos:exactMatch hgnc.symbol:DENR semapv:UnspecifiedMatching OMIM:604550 DENR skos:exactMatch ncbigene:8562 semapv:UnspecifiedMatching -OMIM:604551 CH25H skos:exactMatch hgnc:CH25H semapv:UnspecifiedMatching +OMIM:604551 CH25H skos:exactMatch hgnc.symbol:1907 semapv:UnspecifiedMatching +OMIM:604551 CH25H skos:exactMatch hgnc.symbol:CH25H semapv:UnspecifiedMatching OMIM:604551 CH25H skos:exactMatch ncbigene:9023 semapv:UnspecifiedMatching -OMIM:604552 HGFAC skos:exactMatch hgnc:HGFAC semapv:UnspecifiedMatching +OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:4894 semapv:UnspecifiedMatching +OMIM:604552 HGFAC skos:exactMatch hgnc.symbol:HGFAC semapv:UnspecifiedMatching OMIM:604552 HGFAC skos:exactMatch ncbigene:3083 semapv:UnspecifiedMatching -OMIM:604553 HSBP1 skos:exactMatch hgnc:HSBP1 semapv:UnspecifiedMatching +OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:5203 semapv:UnspecifiedMatching +OMIM:604553 HSBP1 skos:exactMatch hgnc.symbol:HSBP1 semapv:UnspecifiedMatching OMIM:604553 HSBP1 skos:exactMatch ncbigene:3281 semapv:UnspecifiedMatching -OMIM:604554 HSF2BP skos:exactMatch hgnc:HSF2BP semapv:UnspecifiedMatching +OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:5226 semapv:UnspecifiedMatching +OMIM:604554 HSF2BP skos:exactMatch hgnc.symbol:HSF2BP semapv:UnspecifiedMatching OMIM:604554 HSF2BP skos:exactMatch ncbigene:11077 semapv:UnspecifiedMatching -OMIM:604555 CDH10 skos:exactMatch hgnc:CDH10 semapv:UnspecifiedMatching +OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:1749 semapv:UnspecifiedMatching +OMIM:604555 CDH10 skos:exactMatch hgnc.symbol:CDH10 semapv:UnspecifiedMatching OMIM:604555 CDH10 skos:exactMatch ncbigene:1008 semapv:UnspecifiedMatching -OMIM:604556 DYRK1B skos:exactMatch hgnc:DYRK1B semapv:UnspecifiedMatching +OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:3092 semapv:UnspecifiedMatching +OMIM:604556 DYRK1B skos:exactMatch hgnc.symbol:DYRK1B semapv:UnspecifiedMatching OMIM:604556 DYRK1B skos:exactMatch ncbigene:9149 semapv:UnspecifiedMatching -OMIM:604557 ZNF423 skos:exactMatch hgnc:ZNF423 semapv:UnspecifiedMatching +OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:16762 semapv:UnspecifiedMatching +OMIM:604557 ZNF423 skos:exactMatch hgnc.symbol:ZNF423 semapv:UnspecifiedMatching OMIM:604557 ZNF423 skos:exactMatch ncbigene:23090 semapv:UnspecifiedMatching -OMIM:604558 ICOS skos:exactMatch hgnc:ICOS semapv:UnspecifiedMatching +OMIM:604558 ICOS skos:exactMatch hgnc.symbol:5351 semapv:UnspecifiedMatching +OMIM:604558 ICOS skos:exactMatch hgnc.symbol:ICOS semapv:UnspecifiedMatching OMIM:604558 ICOS skos:exactMatch ncbigene:29851 semapv:UnspecifiedMatching -OMIM:604561 MGAT4B skos:exactMatch hgnc:MGAT4B semapv:UnspecifiedMatching +OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:7048 semapv:UnspecifiedMatching +OMIM:604561 MGAT4B skos:exactMatch hgnc.symbol:MGAT4B semapv:UnspecifiedMatching OMIM:604561 MGAT4B skos:exactMatch ncbigene:11282 semapv:UnspecifiedMatching -OMIM:604562 ACIN1 skos:exactMatch hgnc:ACIN1 semapv:UnspecifiedMatching +OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:17066 semapv:UnspecifiedMatching +OMIM:604562 ACIN1 skos:exactMatch hgnc.symbol:ACIN1 semapv:UnspecifiedMatching OMIM:604562 ACIN1 skos:exactMatch ncbigene:22985 semapv:UnspecifiedMatching +OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch Orphanet:99956 semapv:UnspecifiedMatching OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch UMLS:C1858278 semapv:UnspecifiedMatching -OMIM:604563 charcot-marie-tooth disease, iia 4b2 skos:exactMatch orphanet.ordo:99956 semapv:UnspecifiedMatching -OMIM:604564 MGST3 skos:exactMatch hgnc:MGST3 semapv:UnspecifiedMatching +OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:7064 semapv:UnspecifiedMatching +OMIM:604564 MGST3 skos:exactMatch hgnc.symbol:MGST3 semapv:UnspecifiedMatching OMIM:604564 MGST3 skos:exactMatch ncbigene:4259 semapv:UnspecifiedMatching OMIM:604565 ALG5 skos:exactMatch UMLS:C1426822 semapv:UnspecifiedMatching -OMIM:604565 ALG5 skos:exactMatch hgnc:ALG5 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:20266 semapv:UnspecifiedMatching +OMIM:604565 ALG5 skos:exactMatch hgnc.symbol:ALG5 semapv:UnspecifiedMatching OMIM:604565 ALG5 skos:exactMatch ncbigene:29880 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch UMLS:C1427953 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch UMLS:C2930997 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604566 ALG6 skos:exactMatch hgnc:ALG6 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:23157 semapv:UnspecifiedMatching +OMIM:604566 ALG6 skos:exactMatch hgnc.symbol:ALG6 semapv:UnspecifiedMatching OMIM:604566 ALG6 skos:exactMatch ncbigene:29929 semapv:UnspecifiedMatching -OMIM:604567 DOC2A skos:exactMatch hgnc:DOC2A semapv:UnspecifiedMatching +OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:2985 semapv:UnspecifiedMatching +OMIM:604567 DOC2A skos:exactMatch hgnc.symbol:DOC2A semapv:UnspecifiedMatching OMIM:604567 DOC2A skos:exactMatch ncbigene:8448 semapv:UnspecifiedMatching -OMIM:604568 DOC2B skos:exactMatch hgnc:DOC2B semapv:UnspecifiedMatching +OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:2986 semapv:UnspecifiedMatching +OMIM:604568 DOC2B skos:exactMatch hgnc.symbol:DOC2B semapv:UnspecifiedMatching OMIM:604568 DOC2B skos:exactMatch ncbigene:8447 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C1422223 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2677504 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C2750246 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch UMLS:C4552043 semapv:UnspecifiedMatching -OMIM:604569 CNTNAP2 skos:exactMatch hgnc:CNTNAP2 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:13830 semapv:UnspecifiedMatching +OMIM:604569 CNTNAP2 skos:exactMatch hgnc.symbol:CNTNAP2 semapv:UnspecifiedMatching OMIM:604569 CNTNAP2 skos:exactMatch ncbigene:26047 semapv:UnspecifiedMatching -OMIM:604570 SHROOM3 skos:exactMatch hgnc:SHROOM3 semapv:UnspecifiedMatching +OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:30422 semapv:UnspecifiedMatching +OMIM:604570 SHROOM3 skos:exactMatch hgnc.symbol:SHROOM3 semapv:UnspecifiedMatching OMIM:604570 SHROOM3 skos:exactMatch ncbigene:57619 semapv:UnspecifiedMatching -OMIM:604572 DNAJB1 skos:exactMatch hgnc:DNAJB1 semapv:UnspecifiedMatching +OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:5270 semapv:UnspecifiedMatching +OMIM:604572 DNAJB1 skos:exactMatch hgnc.symbol:DNAJB1 semapv:UnspecifiedMatching OMIM:604572 DNAJB1 skos:exactMatch ncbigene:3337 semapv:UnspecifiedMatching OMIM:604573 ATP5MPL skos:exactMatch UMLS:C1412885 semapv:UnspecifiedMatching -OMIM:604573 ATP5MPL skos:exactMatch hgnc:ATP5MJ semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:1188 semapv:UnspecifiedMatching +OMIM:604573 ATP5MPL skos:exactMatch hgnc.symbol:ATP5MJ semapv:UnspecifiedMatching OMIM:604573 ATP5MPL skos:exactMatch ncbigene:9556 semapv:UnspecifiedMatching OMIM:604574 FRRS1L skos:exactMatch UMLS:C1413032 semapv:UnspecifiedMatching OMIM:604574 FRRS1L skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching -OMIM:604574 FRRS1L skos:exactMatch hgnc:FRRS1L semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:1362 semapv:UnspecifiedMatching +OMIM:604574 FRRS1L skos:exactMatch hgnc.symbol:FRRS1L semapv:UnspecifiedMatching OMIM:604574 FRRS1L skos:exactMatch ncbigene:23732 semapv:UnspecifiedMatching -OMIM:604575 ZNHIT2 skos:exactMatch hgnc:ZNHIT2 semapv:UnspecifiedMatching +OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:1177 semapv:UnspecifiedMatching +OMIM:604575 ZNHIT2 skos:exactMatch hgnc.symbol:ZNHIT2 semapv:UnspecifiedMatching OMIM:604575 ZNHIT2 skos:exactMatch ncbigene:741 semapv:UnspecifiedMatching -OMIM:604576 ERG28 skos:exactMatch hgnc:ERG28 semapv:UnspecifiedMatching +OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:1187 semapv:UnspecifiedMatching +OMIM:604576 ERG28 skos:exactMatch hgnc.symbol:ERG28 semapv:UnspecifiedMatching OMIM:604576 ERG28 skos:exactMatch ncbigene:11161 semapv:UnspecifiedMatching -OMIM:604577 BVES skos:exactMatch hgnc:BVES semapv:UnspecifiedMatching +OMIM:604577 BVES skos:exactMatch hgnc.symbol:1152 semapv:UnspecifiedMatching +OMIM:604577 BVES skos:exactMatch hgnc.symbol:BVES semapv:UnspecifiedMatching OMIM:604577 BVES skos:exactMatch ncbigene:11149 semapv:UnspecifiedMatching OMIM:604578 AIM2 skos:exactMatch UMLS:C1332065 semapv:UnspecifiedMatching -OMIM:604578 AIM2 skos:exactMatch hgnc:AIM2 semapv:UnspecifiedMatching +OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:357 semapv:UnspecifiedMatching +OMIM:604578 AIM2 skos:exactMatch hgnc.symbol:AIM2 semapv:UnspecifiedMatching OMIM:604578 AIM2 skos:exactMatch ncbigene:9447 semapv:UnspecifiedMatching -OMIM:604579 FZD4 skos:exactMatch hgnc:FZD4 semapv:UnspecifiedMatching +OMIM:604579 FZD4 skos:exactMatch hgnc.symbol:4042 semapv:UnspecifiedMatching +OMIM:604579 FZD4 skos:exactMatch hgnc.symbol:FZD4 semapv:UnspecifiedMatching OMIM:604579 FZD4 skos:exactMatch ncbigene:8322 semapv:UnspecifiedMatching -OMIM:604580 FBLN5 skos:exactMatch hgnc:FBLN5 semapv:UnspecifiedMatching +OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:3602 semapv:UnspecifiedMatching +OMIM:604580 FBLN5 skos:exactMatch hgnc.symbol:FBLN5 semapv:UnspecifiedMatching OMIM:604580 FBLN5 skos:exactMatch ncbigene:10516 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1412274 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching -OMIM:604581 AFG3L2 skos:exactMatch hgnc:AFG3L2 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:315 semapv:UnspecifiedMatching +OMIM:604581 AFG3L2 skos:exactMatch hgnc.symbol:AFG3L2 semapv:UnspecifiedMatching OMIM:604581 AFG3L2 skos:exactMatch ncbigene:10939 semapv:UnspecifiedMatching -OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc:PALM2AKAP2 semapv:UnspecifiedMatching +OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc.symbol:33529 semapv:UnspecifiedMatching +OMIM:604582 PALM2AKAP2 skos:exactMatch hgnc.symbol:PALM2AKAP2 semapv:UnspecifiedMatching OMIM:604582 PALM2AKAP2 skos:exactMatch ncbigene:445815 semapv:UnspecifiedMatching -OMIM:604583 PDCD5 skos:exactMatch hgnc:PDCD5 semapv:UnspecifiedMatching +OMIM:604583 PDCD5 skos:exactMatch hgnc.symbol:8764 semapv:UnspecifiedMatching +OMIM:604583 PDCD5 skos:exactMatch hgnc.symbol:PDCD5 semapv:UnspecifiedMatching OMIM:604583 PDCD5 skos:exactMatch ncbigene:9141 semapv:UnspecifiedMatching -OMIM:604584 PDGFRL skos:exactMatch hgnc:PDGFRL semapv:UnspecifiedMatching +OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:8805 semapv:UnspecifiedMatching +OMIM:604584 PDGFRL skos:exactMatch hgnc.symbol:PDGFRL semapv:UnspecifiedMatching OMIM:604584 PDGFRL skos:exactMatch ncbigene:5157 semapv:UnspecifiedMatching -OMIM:604585 SP100 skos:exactMatch hgnc:SP100 semapv:UnspecifiedMatching +OMIM:604585 SP100 skos:exactMatch hgnc.symbol:11206 semapv:UnspecifiedMatching +OMIM:604585 SP100 skos:exactMatch hgnc.symbol:SP100 semapv:UnspecifiedMatching OMIM:604585 SP100 skos:exactMatch ncbigene:6672 semapv:UnspecifiedMatching -OMIM:604586 STXBP5 skos:exactMatch hgnc:STXBP5 semapv:UnspecifiedMatching +OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:19665 semapv:UnspecifiedMatching +OMIM:604586 STXBP5 skos:exactMatch hgnc.symbol:STXBP5 semapv:UnspecifiedMatching OMIM:604586 STXBP5 skos:exactMatch ncbigene:134957 semapv:UnspecifiedMatching -OMIM:604587 CALCOCO2 skos:exactMatch hgnc:CALCOCO2 semapv:UnspecifiedMatching +OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:29912 semapv:UnspecifiedMatching +OMIM:604587 CALCOCO2 skos:exactMatch hgnc.symbol:CALCOCO2 semapv:UnspecifiedMatching OMIM:604587 CALCOCO2 skos:exactMatch ncbigene:10241 semapv:UnspecifiedMatching -OMIM:604588 NEK1 skos:exactMatch hgnc:NEK1 semapv:UnspecifiedMatching +OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:7744 semapv:UnspecifiedMatching +OMIM:604588 NEK1 skos:exactMatch hgnc.symbol:NEK1 semapv:UnspecifiedMatching OMIM:604588 NEK1 skos:exactMatch ncbigene:4750 semapv:UnspecifiedMatching -OMIM:604589 BRD1 skos:exactMatch hgnc:BRD1 semapv:UnspecifiedMatching +OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:1102 semapv:UnspecifiedMatching +OMIM:604589 BRD1 skos:exactMatch hgnc.symbol:BRD1 semapv:UnspecifiedMatching OMIM:604589 BRD1 skos:exactMatch ncbigene:23774 semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch UMLS:C1414554 semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching -OMIM:604590 FCGR2B skos:exactMatch hgnc:FCGR2B semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:3618 semapv:UnspecifiedMatching +OMIM:604590 FCGR2B skos:exactMatch hgnc.symbol:FCGR2B semapv:UnspecifiedMatching OMIM:604590 FCGR2B skos:exactMatch ncbigene:2213 semapv:UnspecifiedMatching -OMIM:604591 PEBP1 skos:exactMatch hgnc:PEBP1 semapv:UnspecifiedMatching +OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:8630 semapv:UnspecifiedMatching +OMIM:604591 PEBP1 skos:exactMatch hgnc.symbol:PEBP1 semapv:UnspecifiedMatching OMIM:604591 PEBP1 skos:exactMatch ncbigene:5037 semapv:UnspecifiedMatching -OMIM:604592 TCIRG1 skos:exactMatch hgnc:TCIRG1 semapv:UnspecifiedMatching +OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:11647 semapv:UnspecifiedMatching +OMIM:604592 TCIRG1 skos:exactMatch hgnc.symbol:TCIRG1 semapv:UnspecifiedMatching OMIM:604592 TCIRG1 skos:exactMatch ncbigene:10312 semapv:UnspecifiedMatching -OMIM:604593 KIF5C skos:exactMatch hgnc:KIF5C semapv:UnspecifiedMatching +OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:6325 semapv:UnspecifiedMatching +OMIM:604593 KIF5C skos:exactMatch hgnc.symbol:KIF5C semapv:UnspecifiedMatching OMIM:604593 KIF5C skos:exactMatch ncbigene:3800 semapv:UnspecifiedMatching -OMIM:604594 CRIPT skos:exactMatch hgnc:CRIPT semapv:UnspecifiedMatching +OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:14312 semapv:UnspecifiedMatching +OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:CRIPT semapv:UnspecifiedMatching OMIM:604594 CRIPT skos:exactMatch ncbigene:9419 semapv:UnspecifiedMatching -OMIM:604596 FBXW10B skos:exactMatch hgnc:FBXW10B semapv:UnspecifiedMatching +OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:14379 semapv:UnspecifiedMatching +OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:FBXW10B semapv:UnspecifiedMatching OMIM:604596 FBXW10B skos:exactMatch ncbigene:374286 semapv:UnspecifiedMatching -OMIM:604597 GRIP1 skos:exactMatch hgnc:GRIP1 semapv:UnspecifiedMatching +OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:18708 semapv:UnspecifiedMatching +OMIM:604597 GRIP1 skos:exactMatch hgnc.symbol:GRIP1 semapv:UnspecifiedMatching OMIM:604597 GRIP1 skos:exactMatch ncbigene:23426 semapv:UnspecifiedMatching -OMIM:604598 OSGIN2 skos:exactMatch hgnc:OSGIN2 semapv:UnspecifiedMatching +OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:1355 semapv:UnspecifiedMatching +OMIM:604598 OSGIN2 skos:exactMatch hgnc.symbol:OSGIN2 semapv:UnspecifiedMatching OMIM:604598 OSGIN2 skos:exactMatch ncbigene:734 semapv:UnspecifiedMatching -OMIM:604599 EHMT2 skos:exactMatch hgnc:EHMT2 semapv:UnspecifiedMatching +OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:14129 semapv:UnspecifiedMatching +OMIM:604599 EHMT2 skos:exactMatch hgnc.symbol:EHMT2 semapv:UnspecifiedMatching OMIM:604599 EHMT2 skos:exactMatch ncbigene:10919 semapv:UnspecifiedMatching -OMIM:604600 TRPM5 skos:exactMatch hgnc:TRPM5 semapv:UnspecifiedMatching +OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:14323 semapv:UnspecifiedMatching +OMIM:604600 TRPM5 skos:exactMatch hgnc.symbol:TRPM5 semapv:UnspecifiedMatching OMIM:604600 TRPM5 skos:exactMatch ncbigene:29850 semapv:UnspecifiedMatching -OMIM:604601 MTRF1 skos:exactMatch hgnc:MTRF1 semapv:UnspecifiedMatching +OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:7469 semapv:UnspecifiedMatching +OMIM:604601 MTRF1 skos:exactMatch hgnc.symbol:MTRF1 semapv:UnspecifiedMatching OMIM:604601 MTRF1 skos:exactMatch ncbigene:9617 semapv:UnspecifiedMatching -OMIM:604602 MRRF skos:exactMatch hgnc:MRRF semapv:UnspecifiedMatching +OMIM:604602 MRRF skos:exactMatch hgnc.symbol:7234 semapv:UnspecifiedMatching +OMIM:604602 MRRF skos:exactMatch hgnc.symbol:MRRF semapv:UnspecifiedMatching OMIM:604602 MRRF skos:exactMatch ncbigene:92399 semapv:UnspecifiedMatching OMIM:604603 MYOF skos:exactMatch UMLS:C1414587 semapv:UnspecifiedMatching -OMIM:604603 MYOF skos:exactMatch hgnc:MYOF semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch hgnc.symbol:3656 semapv:UnspecifiedMatching +OMIM:604603 MYOF skos:exactMatch hgnc.symbol:MYOF semapv:UnspecifiedMatching OMIM:604603 MYOF skos:exactMatch ncbigene:26509 semapv:UnspecifiedMatching -OMIM:604604 SLC30A9 skos:exactMatch hgnc:SLC30A9 semapv:UnspecifiedMatching +OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:1329 semapv:UnspecifiedMatching +OMIM:604604 SLC30A9 skos:exactMatch hgnc.symbol:SLC30A9 semapv:UnspecifiedMatching OMIM:604604 SLC30A9 skos:exactMatch ncbigene:10463 semapv:UnspecifiedMatching OMIM:604605 KALRN skos:exactMatch UMLS:C1537432 semapv:UnspecifiedMatching OMIM:604605 KALRN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:604605 KALRN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604605 KALRN skos:exactMatch hgnc:KALRN semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch hgnc.symbol:4814 semapv:UnspecifiedMatching +OMIM:604605 KALRN skos:exactMatch hgnc.symbol:KALRN semapv:UnspecifiedMatching OMIM:604605 KALRN skos:exactMatch ncbigene:8997 semapv:UnspecifiedMatching -OMIM:604606 OBP2B skos:exactMatch hgnc:OBP2B semapv:UnspecifiedMatching +OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:23381 semapv:UnspecifiedMatching +OMIM:604606 OBP2B skos:exactMatch hgnc.symbol:OBP2B semapv:UnspecifiedMatching OMIM:604606 OBP2B skos:exactMatch ncbigene:29989 semapv:UnspecifiedMatching -OMIM:604607 HOXB13 skos:exactMatch hgnc:HOXB13 semapv:UnspecifiedMatching +OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:5112 semapv:UnspecifiedMatching +OMIM:604607 HOXB13 skos:exactMatch hgnc.symbol:HOXB13 semapv:UnspecifiedMatching OMIM:604607 HOXB13 skos:exactMatch ncbigene:10481 semapv:UnspecifiedMatching -OMIM:604609 MUC12 skos:exactMatch hgnc:MUC12 semapv:UnspecifiedMatching +OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:7510 semapv:UnspecifiedMatching +OMIM:604609 MUC12 skos:exactMatch hgnc.symbol:MUC12 semapv:UnspecifiedMatching OMIM:604609 MUC12 skos:exactMatch ncbigene:10071 semapv:UnspecifiedMatching -OMIM:604610 RECQL3 skos:exactMatch hgnc:BLM semapv:UnspecifiedMatching +OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:1058 semapv:UnspecifiedMatching +OMIM:604610 RECQL3 skos:exactMatch hgnc.symbol:BLM semapv:UnspecifiedMatching OMIM:604610 RECQL3 skos:exactMatch ncbigene:641 semapv:UnspecifiedMatching OMIM:604611 RECQL2 skos:exactMatch UMLS:C0043119 semapv:UnspecifiedMatching OMIM:604611 RECQL2 skos:exactMatch UMLS:C1337007 semapv:UnspecifiedMatching -OMIM:604611 RECQL2 skos:exactMatch hgnc:WRN semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:12791 semapv:UnspecifiedMatching +OMIM:604611 RECQL2 skos:exactMatch hgnc.symbol:WRN semapv:UnspecifiedMatching OMIM:604611 RECQL2 skos:exactMatch ncbigene:7486 semapv:UnspecifiedMatching -OMIM:604612 NKX2-2 skos:exactMatch hgnc:NKX2-2 semapv:UnspecifiedMatching +OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:7835 semapv:UnspecifiedMatching +OMIM:604612 NKX2-2 skos:exactMatch hgnc.symbol:NKX2-2 semapv:UnspecifiedMatching OMIM:604612 NKX2-2 skos:exactMatch ncbigene:4821 semapv:UnspecifiedMatching OMIM:604613 TBX18 skos:exactMatch UMLS:C0521619 semapv:UnspecifiedMatching OMIM:604613 TBX18 skos:exactMatch UMLS:C1420606 semapv:UnspecifiedMatching -OMIM:604613 TBX18 skos:exactMatch hgnc:TBX18 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:11595 semapv:UnspecifiedMatching +OMIM:604613 TBX18 skos:exactMatch hgnc.symbol:TBX18 semapv:UnspecifiedMatching OMIM:604613 TBX18 skos:exactMatch ncbigene:9096 semapv:UnspecifiedMatching OMIM:604614 TBX19 skos:exactMatch UMLS:C0271583 semapv:UnspecifiedMatching OMIM:604614 TBX19 skos:exactMatch UMLS:C1420607 semapv:UnspecifiedMatching -OMIM:604614 TBX19 skos:exactMatch hgnc:TBX19 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:11596 semapv:UnspecifiedMatching +OMIM:604614 TBX19 skos:exactMatch hgnc.symbol:TBX19 semapv:UnspecifiedMatching OMIM:604614 TBX19 skos:exactMatch ncbigene:9095 semapv:UnspecifiedMatching OMIM:604615 EOMES skos:exactMatch UMLS:C1414420 semapv:UnspecifiedMatching -OMIM:604615 EOMES skos:exactMatch hgnc:EOMES semapv:UnspecifiedMatching +OMIM:604615 EOMES skos:exactMatch hgnc.symbol:3372 semapv:UnspecifiedMatching +OMIM:604615 EOMES skos:exactMatch hgnc.symbol:EOMES semapv:UnspecifiedMatching OMIM:604615 EOMES skos:exactMatch ncbigene:8320 semapv:UnspecifiedMatching -OMIM:604616 TBR1 skos:exactMatch hgnc:TBR1 semapv:UnspecifiedMatching +OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:11590 semapv:UnspecifiedMatching +OMIM:604616 TBR1 skos:exactMatch hgnc.symbol:TBR1 semapv:UnspecifiedMatching OMIM:604616 TBR1 skos:exactMatch ncbigene:10716 semapv:UnspecifiedMatching -OMIM:604617 NEU3 skos:exactMatch hgnc:NEU3 semapv:UnspecifiedMatching +OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:7760 semapv:UnspecifiedMatching +OMIM:604617 NEU3 skos:exactMatch hgnc.symbol:NEU3 semapv:UnspecifiedMatching OMIM:604617 NEU3 skos:exactMatch ncbigene:10825 semapv:UnspecifiedMatching OMIM:604618 NIT1 skos:exactMatch UMLS:C1417732 semapv:UnspecifiedMatching -OMIM:604618 NIT1 skos:exactMatch hgnc:NIT1 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:7828 semapv:UnspecifiedMatching +OMIM:604618 NIT1 skos:exactMatch hgnc.symbol:NIT1 semapv:UnspecifiedMatching OMIM:604618 NIT1 skos:exactMatch ncbigene:4817 semapv:UnspecifiedMatching -OMIM:604619 LGI1 skos:exactMatch hgnc:LGI1 semapv:UnspecifiedMatching +OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:6572 semapv:UnspecifiedMatching +OMIM:604619 LGI1 skos:exactMatch hgnc.symbol:LGI1 semapv:UnspecifiedMatching OMIM:604619 LGI1 skos:exactMatch ncbigene:9211 semapv:UnspecifiedMatching -OMIM:604620 GPR65 skos:exactMatch hgnc:GPR65 semapv:UnspecifiedMatching +OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:4517 semapv:UnspecifiedMatching +OMIM:604620 GPR65 skos:exactMatch hgnc.symbol:GPR65 semapv:UnspecifiedMatching OMIM:604620 GPR65 skos:exactMatch ncbigene:8477 semapv:UnspecifiedMatching -OMIM:604621 MGAT3 skos:exactMatch hgnc:MGAT3 semapv:UnspecifiedMatching +OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:7046 semapv:UnspecifiedMatching +OMIM:604621 MGAT3 skos:exactMatch hgnc.symbol:MGAT3 semapv:UnspecifiedMatching OMIM:604621 MGAT3 skos:exactMatch ncbigene:4248 semapv:UnspecifiedMatching -OMIM:604623 MGAT4A skos:exactMatch hgnc:MGAT4A semapv:UnspecifiedMatching +OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:7047 semapv:UnspecifiedMatching +OMIM:604623 MGAT4A skos:exactMatch hgnc.symbol:MGAT4A semapv:UnspecifiedMatching OMIM:604623 MGAT4A skos:exactMatch ncbigene:11320 semapv:UnspecifiedMatching -OMIM:604624 HSPB3 skos:exactMatch hgnc:HSPB3 semapv:UnspecifiedMatching +OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:5248 semapv:UnspecifiedMatching +OMIM:604624 HSPB3 skos:exactMatch hgnc.symbol:HSPB3 semapv:UnspecifiedMatching OMIM:604624 HSPB3 skos:exactMatch ncbigene:8988 semapv:UnspecifiedMatching -OMIM:604626 ME3 skos:exactMatch hgnc:ME3 semapv:UnspecifiedMatching +OMIM:604626 ME3 skos:exactMatch hgnc.symbol:6985 semapv:UnspecifiedMatching +OMIM:604626 ME3 skos:exactMatch hgnc.symbol:ME3 semapv:UnspecifiedMatching OMIM:604626 ME3 skos:exactMatch ncbigene:10873 semapv:UnspecifiedMatching -OMIM:604627 IL17B skos:exactMatch hgnc:IL17B semapv:UnspecifiedMatching +OMIM:604627 IL17B skos:exactMatch hgnc.symbol:5982 semapv:UnspecifiedMatching +OMIM:604627 IL17B skos:exactMatch hgnc.symbol:IL17B semapv:UnspecifiedMatching OMIM:604627 IL17B skos:exactMatch ncbigene:27190 semapv:UnspecifiedMatching -OMIM:604628 IL17C skos:exactMatch hgnc:IL17C semapv:UnspecifiedMatching +OMIM:604628 IL17C skos:exactMatch hgnc.symbol:5983 semapv:UnspecifiedMatching +OMIM:604628 IL17C skos:exactMatch hgnc.symbol:IL17C semapv:UnspecifiedMatching OMIM:604628 IL17C skos:exactMatch ncbigene:27189 semapv:UnspecifiedMatching -OMIM:604629 MMP20 skos:exactMatch hgnc:MMP20 semapv:UnspecifiedMatching +OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:7167 semapv:UnspecifiedMatching +OMIM:604629 MMP20 skos:exactMatch hgnc.symbol:MMP20 semapv:UnspecifiedMatching OMIM:604629 MMP20 skos:exactMatch ncbigene:9313 semapv:UnspecifiedMatching -OMIM:604630 NR0B2 skos:exactMatch hgnc:NR0B2 semapv:UnspecifiedMatching +OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:7961 semapv:UnspecifiedMatching +OMIM:604630 NR0B2 skos:exactMatch hgnc.symbol:NR0B2 semapv:UnspecifiedMatching OMIM:604630 NR0B2 skos:exactMatch ncbigene:8431 semapv:UnspecifiedMatching -OMIM:604631 VAT1 skos:exactMatch hgnc:VAT1 semapv:UnspecifiedMatching +OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:16919 semapv:UnspecifiedMatching +OMIM:604631 VAT1 skos:exactMatch hgnc.symbol:VAT1 semapv:UnspecifiedMatching OMIM:604631 VAT1 skos:exactMatch ncbigene:10493 semapv:UnspecifiedMatching -OMIM:604632 VAC14 skos:exactMatch hgnc:VAC14 semapv:UnspecifiedMatching +OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:25507 semapv:UnspecifiedMatching +OMIM:604632 VAC14 skos:exactMatch hgnc.symbol:VAC14 semapv:UnspecifiedMatching OMIM:604632 VAC14 skos:exactMatch ncbigene:55697 semapv:UnspecifiedMatching -OMIM:604633 EFEMP2 skos:exactMatch hgnc:EFEMP2 semapv:UnspecifiedMatching +OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:3219 semapv:UnspecifiedMatching +OMIM:604633 EFEMP2 skos:exactMatch hgnc.symbol:EFEMP2 semapv:UnspecifiedMatching OMIM:604633 EFEMP2 skos:exactMatch ncbigene:30008 semapv:UnspecifiedMatching -OMIM:604634 TAGLN2 skos:exactMatch hgnc:TAGLN2 semapv:UnspecifiedMatching +OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:11554 semapv:UnspecifiedMatching +OMIM:604634 TAGLN2 skos:exactMatch hgnc.symbol:TAGLN2 semapv:UnspecifiedMatching OMIM:604634 TAGLN2 skos:exactMatch ncbigene:8407 semapv:UnspecifiedMatching -OMIM:604635 NXPH2 skos:exactMatch hgnc:NXPH2 semapv:UnspecifiedMatching +OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:8076 semapv:UnspecifiedMatching +OMIM:604635 NXPH2 skos:exactMatch hgnc.symbol:NXPH2 semapv:UnspecifiedMatching OMIM:604635 NXPH2 skos:exactMatch ncbigene:11249 semapv:UnspecifiedMatching -OMIM:604636 NXPH3 skos:exactMatch hgnc:NXPH3 semapv:UnspecifiedMatching +OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:8077 semapv:UnspecifiedMatching +OMIM:604636 NXPH3 skos:exactMatch hgnc.symbol:NXPH3 semapv:UnspecifiedMatching OMIM:604636 NXPH3 skos:exactMatch ncbigene:11248 semapv:UnspecifiedMatching -OMIM:604637 NXPH4 skos:exactMatch hgnc:NXPH4 semapv:UnspecifiedMatching +OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:8078 semapv:UnspecifiedMatching +OMIM:604637 NXPH4 skos:exactMatch hgnc.symbol:NXPH4 semapv:UnspecifiedMatching OMIM:604637 NXPH4 skos:exactMatch ncbigene:11247 semapv:UnspecifiedMatching -OMIM:604638 ACTN4 skos:exactMatch hgnc:ACTN4 semapv:UnspecifiedMatching +OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:166 semapv:UnspecifiedMatching +OMIM:604638 ACTN4 skos:exactMatch hgnc.symbol:ACTN4 semapv:UnspecifiedMatching OMIM:604638 ACTN4 skos:exactMatch ncbigene:81 semapv:UnspecifiedMatching -OMIM:604639 NXPH1 skos:exactMatch hgnc:NXPH1 semapv:UnspecifiedMatching +OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:20693 semapv:UnspecifiedMatching +OMIM:604639 NXPH1 skos:exactMatch hgnc.symbol:NXPH1 semapv:UnspecifiedMatching OMIM:604639 NXPH1 skos:exactMatch ncbigene:30010 semapv:UnspecifiedMatching -OMIM:604640 TLX3 skos:exactMatch hgnc:TLX3 semapv:UnspecifiedMatching +OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:13532 semapv:UnspecifiedMatching +OMIM:604640 TLX3 skos:exactMatch hgnc.symbol:TLX3 semapv:UnspecifiedMatching OMIM:604640 TLX3 skos:exactMatch ncbigene:30012 semapv:UnspecifiedMatching OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C1417024 semapv:UnspecifiedMatching OMIM:604641 MAPK8IP1 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:604641 MAPK8IP1 skos:exactMatch hgnc:MAPK8IP1 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:6882 semapv:UnspecifiedMatching +OMIM:604641 MAPK8IP1 skos:exactMatch hgnc.symbol:MAPK8IP1 semapv:UnspecifiedMatching OMIM:604641 MAPK8IP1 skos:exactMatch ncbigene:9479 semapv:UnspecifiedMatching -OMIM:604642 CA10 skos:exactMatch hgnc:CA10 semapv:UnspecifiedMatching +OMIM:604642 CA10 skos:exactMatch hgnc.symbol:1369 semapv:UnspecifiedMatching +OMIM:604642 CA10 skos:exactMatch hgnc.symbol:CA10 semapv:UnspecifiedMatching OMIM:604642 CA10 skos:exactMatch ncbigene:56934 semapv:UnspecifiedMatching -OMIM:604643 NPFF skos:exactMatch hgnc:NPFF semapv:UnspecifiedMatching +OMIM:604643 NPFF skos:exactMatch hgnc.symbol:7901 semapv:UnspecifiedMatching +OMIM:604643 NPFF skos:exactMatch hgnc.symbol:NPFF semapv:UnspecifiedMatching OMIM:604643 NPFF skos:exactMatch ncbigene:8620 semapv:UnspecifiedMatching -OMIM:604644 CA11 skos:exactMatch hgnc:CA11 semapv:UnspecifiedMatching +OMIM:604644 CA11 skos:exactMatch hgnc.symbol:1370 semapv:UnspecifiedMatching +OMIM:604644 CA11 skos:exactMatch hgnc.symbol:CA11 semapv:UnspecifiedMatching OMIM:604644 CA11 skos:exactMatch ncbigene:770 semapv:UnspecifiedMatching -OMIM:604645 PDE7B skos:exactMatch hgnc:PDE7B semapv:UnspecifiedMatching +OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:8792 semapv:UnspecifiedMatching +OMIM:604645 PDE7B skos:exactMatch hgnc.symbol:PDE7B semapv:UnspecifiedMatching OMIM:604645 PDE7B skos:exactMatch ncbigene:27115 semapv:UnspecifiedMatching -OMIM:604646 NUP50 skos:exactMatch hgnc:NUP50 semapv:UnspecifiedMatching +OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:8065 semapv:UnspecifiedMatching +OMIM:604646 NUP50 skos:exactMatch hgnc.symbol:NUP50 semapv:UnspecifiedMatching OMIM:604646 NUP50 skos:exactMatch ncbigene:10762 semapv:UnspecifiedMatching -OMIM:604647 CALY skos:exactMatch hgnc:CALY semapv:UnspecifiedMatching +OMIM:604647 CALY skos:exactMatch hgnc.symbol:17938 semapv:UnspecifiedMatching +OMIM:604647 CALY skos:exactMatch hgnc.symbol:CALY semapv:UnspecifiedMatching OMIM:604647 CALY skos:exactMatch ncbigene:50632 semapv:UnspecifiedMatching OMIM:604648 TBX10 skos:exactMatch UMLS:C1420604 semapv:UnspecifiedMatching -OMIM:604648 TBX10 skos:exactMatch hgnc:TBX10 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:11593 semapv:UnspecifiedMatching +OMIM:604648 TBX10 skos:exactMatch hgnc.symbol:TBX10 semapv:UnspecifiedMatching OMIM:604648 TBX10 skos:exactMatch ncbigene:347853 semapv:UnspecifiedMatching -OMIM:604649 TBCD skos:exactMatch hgnc:TBCD semapv:UnspecifiedMatching +OMIM:604649 TBCD skos:exactMatch hgnc.symbol:11581 semapv:UnspecifiedMatching +OMIM:604649 TBCD skos:exactMatch hgnc.symbol:TBCD semapv:UnspecifiedMatching OMIM:604649 TBCD skos:exactMatch ncbigene:6904 semapv:UnspecifiedMatching -OMIM:604650 IFIT3 skos:exactMatch hgnc:IFIT3 semapv:UnspecifiedMatching +OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:5411 semapv:UnspecifiedMatching +OMIM:604650 IFIT3 skos:exactMatch hgnc.symbol:IFIT3 semapv:UnspecifiedMatching OMIM:604650 IFIT3 skos:exactMatch ncbigene:3437 semapv:UnspecifiedMatching -OMIM:604651 GDF7 skos:exactMatch hgnc:GDF7 semapv:UnspecifiedMatching +OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:4222 semapv:UnspecifiedMatching +OMIM:604651 GDF7 skos:exactMatch hgnc.symbol:GDF7 semapv:UnspecifiedMatching OMIM:604651 GDF7 skos:exactMatch ncbigene:151449 semapv:UnspecifiedMatching -OMIM:604652 TCF7L1 skos:exactMatch hgnc:TCF7L1 semapv:UnspecifiedMatching +OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:11640 semapv:UnspecifiedMatching +OMIM:604652 TCF7L1 skos:exactMatch hgnc.symbol:TCF7L1 semapv:UnspecifiedMatching OMIM:604652 TCF7L1 skos:exactMatch ncbigene:83439 semapv:UnspecifiedMatching -OMIM:604653 SLC40A1 skos:exactMatch hgnc:SLC40A1 semapv:UnspecifiedMatching +OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:10909 semapv:UnspecifiedMatching +OMIM:604653 SLC40A1 skos:exactMatch hgnc.symbol:SLC40A1 semapv:UnspecifiedMatching OMIM:604653 SLC40A1 skos:exactMatch ncbigene:30061 semapv:UnspecifiedMatching -OMIM:604654 HTR3B skos:exactMatch hgnc:HTR3B semapv:UnspecifiedMatching +OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:5298 semapv:UnspecifiedMatching +OMIM:604654 HTR3B skos:exactMatch hgnc.symbol:HTR3B semapv:UnspecifiedMatching OMIM:604654 HTR3B skos:exactMatch ncbigene:9177 semapv:UnspecifiedMatching -OMIM:604655 MAP3K14 skos:exactMatch hgnc:MAP3K14 semapv:UnspecifiedMatching +OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:6853 semapv:UnspecifiedMatching +OMIM:604655 MAP3K14 skos:exactMatch hgnc.symbol:MAP3K14 semapv:UnspecifiedMatching OMIM:604655 MAP3K14 skos:exactMatch ncbigene:9020 semapv:UnspecifiedMatching -OMIM:604656 FMNL1 skos:exactMatch hgnc:FMNL1 semapv:UnspecifiedMatching +OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:1212 semapv:UnspecifiedMatching +OMIM:604656 FMNL1 skos:exactMatch hgnc.symbol:FMNL1 semapv:UnspecifiedMatching OMIM:604656 FMNL1 skos:exactMatch ncbigene:752 semapv:UnspecifiedMatching -OMIM:604657 TM4SF5 skos:exactMatch hgnc:TM4SF5 semapv:UnspecifiedMatching +OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:11857 semapv:UnspecifiedMatching +OMIM:604657 TM4SF5 skos:exactMatch hgnc.symbol:TM4SF5 semapv:UnspecifiedMatching OMIM:604657 TM4SF5 skos:exactMatch ncbigene:9032 semapv:UnspecifiedMatching -OMIM:604658 TM7SF1 skos:exactMatch hgnc:GPR137B semapv:UnspecifiedMatching +OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:11862 semapv:UnspecifiedMatching +OMIM:604658 TM7SF1 skos:exactMatch hgnc.symbol:GPR137B semapv:UnspecifiedMatching OMIM:604658 TM7SF1 skos:exactMatch ncbigene:7107 semapv:UnspecifiedMatching -OMIM:604659 ERVW1 skos:exactMatch hgnc:ERVW-1 semapv:UnspecifiedMatching +OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:13525 semapv:UnspecifiedMatching +OMIM:604659 ERVW1 skos:exactMatch hgnc.symbol:ERVW-1 semapv:UnspecifiedMatching OMIM:604659 ERVW1 skos:exactMatch ncbigene:30816 semapv:UnspecifiedMatching -OMIM:604660 KCNIP1 skos:exactMatch hgnc:KCNIP1 semapv:UnspecifiedMatching +OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:15521 semapv:UnspecifiedMatching +OMIM:604660 KCNIP1 skos:exactMatch hgnc.symbol:KCNIP1 semapv:UnspecifiedMatching OMIM:604660 KCNIP1 skos:exactMatch ncbigene:30820 semapv:UnspecifiedMatching -OMIM:604661 KCNIP2 skos:exactMatch hgnc:KCNIP2 semapv:UnspecifiedMatching +OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:15522 semapv:UnspecifiedMatching +OMIM:604661 KCNIP2 skos:exactMatch hgnc.symbol:KCNIP2 semapv:UnspecifiedMatching OMIM:604661 KCNIP2 skos:exactMatch ncbigene:30819 semapv:UnspecifiedMatching -OMIM:604662 KCNIP3 skos:exactMatch hgnc:KCNIP3 semapv:UnspecifiedMatching +OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:15523 semapv:UnspecifiedMatching +OMIM:604662 KCNIP3 skos:exactMatch hgnc.symbol:KCNIP3 semapv:UnspecifiedMatching OMIM:604662 KCNIP3 skos:exactMatch ncbigene:30818 semapv:UnspecifiedMatching -OMIM:604663 WNT6 skos:exactMatch hgnc:WNT6 semapv:UnspecifiedMatching +OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:12785 semapv:UnspecifiedMatching +OMIM:604663 WNT6 skos:exactMatch hgnc.symbol:WNT6 semapv:UnspecifiedMatching OMIM:604663 WNT6 skos:exactMatch ncbigene:7475 semapv:UnspecifiedMatching -OMIM:604664 IFI30 skos:exactMatch hgnc:IFI30 semapv:UnspecifiedMatching +OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:5398 semapv:UnspecifiedMatching +OMIM:604664 IFI30 skos:exactMatch hgnc.symbol:IFI30 semapv:UnspecifiedMatching OMIM:604664 IFI30 skos:exactMatch ncbigene:10437 semapv:UnspecifiedMatching -OMIM:604665 COPS3 skos:exactMatch hgnc:COPS3 semapv:UnspecifiedMatching +OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:2239 semapv:UnspecifiedMatching +OMIM:604665 COPS3 skos:exactMatch hgnc.symbol:COPS3 semapv:UnspecifiedMatching OMIM:604665 COPS3 skos:exactMatch ncbigene:8533 semapv:UnspecifiedMatching -OMIM:604666 MAP4K4 skos:exactMatch hgnc:MAP4K4 semapv:UnspecifiedMatching +OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:6866 semapv:UnspecifiedMatching +OMIM:604666 MAP4K4 skos:exactMatch hgnc.symbol:MAP4K4 semapv:UnspecifiedMatching OMIM:604666 MAP4K4 skos:exactMatch ncbigene:9448 semapv:UnspecifiedMatching -OMIM:604667 CADPS skos:exactMatch hgnc:CADPS semapv:UnspecifiedMatching +OMIM:604667 CADPS skos:exactMatch hgnc.symbol:1426 semapv:UnspecifiedMatching +OMIM:604667 CADPS skos:exactMatch hgnc.symbol:CADPS semapv:UnspecifiedMatching OMIM:604667 CADPS skos:exactMatch ncbigene:8618 semapv:UnspecifiedMatching -OMIM:604668 ZNF264 skos:exactMatch hgnc:ZNF264 semapv:UnspecifiedMatching +OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:13057 semapv:UnspecifiedMatching +OMIM:604668 ZNF264 skos:exactMatch hgnc.symbol:ZNF264 semapv:UnspecifiedMatching OMIM:604668 ZNF264 skos:exactMatch ncbigene:9422 semapv:UnspecifiedMatching -OMIM:604669 PKD2L2 skos:exactMatch hgnc:PKD2L2 semapv:UnspecifiedMatching +OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:9012 semapv:UnspecifiedMatching +OMIM:604669 PKD2L2 skos:exactMatch hgnc.symbol:PKD2L2 semapv:UnspecifiedMatching OMIM:604669 PKD2L2 skos:exactMatch ncbigene:27039 semapv:UnspecifiedMatching -OMIM:604670 PKDREJ skos:exactMatch hgnc:PKDREJ semapv:UnspecifiedMatching +OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:9015 semapv:UnspecifiedMatching +OMIM:604670 PKDREJ skos:exactMatch hgnc.symbol:PKDREJ semapv:UnspecifiedMatching OMIM:604670 PKDREJ skos:exactMatch ncbigene:10343 semapv:UnspecifiedMatching -OMIM:604671 JTB skos:exactMatch hgnc:JTB semapv:UnspecifiedMatching +OMIM:604671 JTB skos:exactMatch hgnc.symbol:6201 semapv:UnspecifiedMatching +OMIM:604671 JTB skos:exactMatch hgnc.symbol:JTB semapv:UnspecifiedMatching OMIM:604671 JTB skos:exactMatch ncbigene:10899 semapv:UnspecifiedMatching -OMIM:604672 CD209 skos:exactMatch hgnc:CD209 semapv:UnspecifiedMatching +OMIM:604672 CD209 skos:exactMatch hgnc.symbol:1641 semapv:UnspecifiedMatching +OMIM:604672 CD209 skos:exactMatch hgnc.symbol:CD209 semapv:UnspecifiedMatching OMIM:604672 CD209 skos:exactMatch ncbigene:30835 semapv:UnspecifiedMatching -OMIM:604673 IRAG1 skos:exactMatch hgnc:IRAG1 semapv:UnspecifiedMatching +OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:7237 semapv:UnspecifiedMatching +OMIM:604673 IRAG1 skos:exactMatch hgnc.symbol:IRAG1 semapv:UnspecifiedMatching OMIM:604673 IRAG1 skos:exactMatch ncbigene:10335 semapv:UnspecifiedMatching OMIM:604674 HEY2 skos:exactMatch UMLS:C1415525 semapv:UnspecifiedMatching -OMIM:604674 HEY2 skos:exactMatch hgnc:HEY2 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:4881 semapv:UnspecifiedMatching +OMIM:604674 HEY2 skos:exactMatch hgnc.symbol:HEY2 semapv:UnspecifiedMatching OMIM:604674 HEY2 skos:exactMatch ncbigene:23493 semapv:UnspecifiedMatching -OMIM:604675 PRRX2 skos:exactMatch hgnc:PRRX2 semapv:UnspecifiedMatching +OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:21338 semapv:UnspecifiedMatching +OMIM:604675 PRRX2 skos:exactMatch hgnc.symbol:PRRX2 semapv:UnspecifiedMatching OMIM:604675 PRRX2 skos:exactMatch ncbigene:51450 semapv:UnspecifiedMatching -OMIM:604676 HCP5 skos:exactMatch hgnc:HCP5 semapv:UnspecifiedMatching +OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:21659 semapv:UnspecifiedMatching +OMIM:604676 HCP5 skos:exactMatch hgnc.symbol:HCP5 semapv:UnspecifiedMatching OMIM:604676 HCP5 skos:exactMatch ncbigene:10866 semapv:UnspecifiedMatching -OMIM:604677 CERT1 skos:exactMatch hgnc:CERT1 semapv:UnspecifiedMatching +OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:2205 semapv:UnspecifiedMatching +OMIM:604677 CERT1 skos:exactMatch hgnc.symbol:CERT1 semapv:UnspecifiedMatching OMIM:604677 CERT1 skos:exactMatch ncbigene:10087 semapv:UnspecifiedMatching -OMIM:604678 TM9SF2 skos:exactMatch hgnc:TM9SF2 semapv:UnspecifiedMatching +OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:11865 semapv:UnspecifiedMatching +OMIM:604678 TM9SF2 skos:exactMatch hgnc.symbol:TM9SF2 semapv:UnspecifiedMatching OMIM:604678 TM9SF2 skos:exactMatch ncbigene:9375 semapv:UnspecifiedMatching -OMIM:604679 PABPC1 skos:exactMatch hgnc:PABPC1 semapv:UnspecifiedMatching +OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:8554 semapv:UnspecifiedMatching +OMIM:604679 PABPC1 skos:exactMatch hgnc.symbol:PABPC1 semapv:UnspecifiedMatching OMIM:604679 PABPC1 skos:exactMatch ncbigene:26986 semapv:UnspecifiedMatching -OMIM:604680 PABPC3 skos:exactMatch hgnc:PABPC3 semapv:UnspecifiedMatching +OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:8556 semapv:UnspecifiedMatching +OMIM:604680 PABPC3 skos:exactMatch hgnc.symbol:PABPC3 semapv:UnspecifiedMatching OMIM:604680 PABPC3 skos:exactMatch ncbigene:5042 semapv:UnspecifiedMatching -OMIM:604682 ITGAE skos:exactMatch hgnc:ITGAE semapv:UnspecifiedMatching +OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:6147 semapv:UnspecifiedMatching +OMIM:604682 ITGAE skos:exactMatch hgnc.symbol:ITGAE semapv:UnspecifiedMatching OMIM:604682 ITGAE skos:exactMatch ncbigene:3682 semapv:UnspecifiedMatching -OMIM:604683 KIF3A skos:exactMatch hgnc:KIF3A semapv:UnspecifiedMatching +OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:6319 semapv:UnspecifiedMatching +OMIM:604683 KIF3A skos:exactMatch hgnc.symbol:KIF3A semapv:UnspecifiedMatching OMIM:604683 KIF3A skos:exactMatch ncbigene:11127 semapv:UnspecifiedMatching OMIM:604684 MLLT11 skos:exactMatch UMLS:C1826257 semapv:UnspecifiedMatching -OMIM:604684 MLLT11 skos:exactMatch hgnc:MLLT11 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:16997 semapv:UnspecifiedMatching +OMIM:604684 MLLT11 skos:exactMatch hgnc.symbol:MLLT11 semapv:UnspecifiedMatching OMIM:604684 MLLT11 skos:exactMatch ncbigene:10962 semapv:UnspecifiedMatching -OMIM:604685 HOXA2 skos:exactMatch hgnc:HOXA2 semapv:UnspecifiedMatching +OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:5103 semapv:UnspecifiedMatching +OMIM:604685 HOXA2 skos:exactMatch hgnc.symbol:HOXA2 semapv:UnspecifiedMatching OMIM:604685 HOXA2 skos:exactMatch ncbigene:3199 semapv:UnspecifiedMatching -OMIM:604686 AKAP13 skos:exactMatch hgnc:AKAP13 semapv:UnspecifiedMatching +OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:371 semapv:UnspecifiedMatching +OMIM:604686 AKAP13 skos:exactMatch hgnc.symbol:AKAP13 semapv:UnspecifiedMatching OMIM:604686 AKAP13 skos:exactMatch ncbigene:11214 semapv:UnspecifiedMatching -OMIM:604687 PTGDR skos:exactMatch hgnc:PTGDR semapv:UnspecifiedMatching +OMIM:604687 PTGDR skos:exactMatch hgnc.symbol:9591 semapv:UnspecifiedMatching +OMIM:604687 PTGDR skos:exactMatch hgnc.symbol:PTGDR semapv:UnspecifiedMatching OMIM:604687 PTGDR skos:exactMatch ncbigene:5729 semapv:UnspecifiedMatching -OMIM:604688 AKAP5 skos:exactMatch hgnc:AKAP5 semapv:UnspecifiedMatching +OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:375 semapv:UnspecifiedMatching +OMIM:604688 AKAP5 skos:exactMatch hgnc.symbol:AKAP5 semapv:UnspecifiedMatching OMIM:604688 AKAP5 skos:exactMatch ncbigene:9495 semapv:UnspecifiedMatching -OMIM:604689 AKAP3 skos:exactMatch hgnc:AKAP3 semapv:UnspecifiedMatching +OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:373 semapv:UnspecifiedMatching +OMIM:604689 AKAP3 skos:exactMatch hgnc.symbol:AKAP3 semapv:UnspecifiedMatching OMIM:604689 AKAP3 skos:exactMatch ncbigene:10566 semapv:UnspecifiedMatching -OMIM:604691 AKAP6 skos:exactMatch hgnc:AKAP6 semapv:UnspecifiedMatching +OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:376 semapv:UnspecifiedMatching +OMIM:604691 AKAP6 skos:exactMatch hgnc.symbol:AKAP6 semapv:UnspecifiedMatching OMIM:604691 AKAP6 skos:exactMatch ncbigene:9472 semapv:UnspecifiedMatching -OMIM:604692 AKAP8 skos:exactMatch hgnc:AKAP8 semapv:UnspecifiedMatching +OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:378 semapv:UnspecifiedMatching +OMIM:604692 AKAP8 skos:exactMatch hgnc.symbol:AKAP8 semapv:UnspecifiedMatching OMIM:604692 AKAP8 skos:exactMatch ncbigene:10270 semapv:UnspecifiedMatching -OMIM:604693 AKAP7 skos:exactMatch hgnc:AKAP7 semapv:UnspecifiedMatching +OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:377 semapv:UnspecifiedMatching +OMIM:604693 AKAP7 skos:exactMatch hgnc.symbol:AKAP7 semapv:UnspecifiedMatching OMIM:604693 AKAP7 skos:exactMatch ncbigene:9465 semapv:UnspecifiedMatching -OMIM:604694 AKAP10 skos:exactMatch hgnc:AKAP10 semapv:UnspecifiedMatching +OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:368 semapv:UnspecifiedMatching +OMIM:604694 AKAP10 skos:exactMatch hgnc.symbol:AKAP10 semapv:UnspecifiedMatching OMIM:604694 AKAP10 skos:exactMatch ncbigene:11216 semapv:UnspecifiedMatching OMIM:604695 ARL3 skos:exactMatch UMLS:C1412538 semapv:UnspecifiedMatching OMIM:604695 ARL3 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching OMIM:604695 ARL3 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching -OMIM:604695 ARL3 skos:exactMatch hgnc:ARL3 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:694 semapv:UnspecifiedMatching +OMIM:604695 ARL3 skos:exactMatch hgnc.symbol:ARL3 semapv:UnspecifiedMatching OMIM:604695 ARL3 skos:exactMatch ncbigene:403 semapv:UnspecifiedMatching -OMIM:604696 AKAP11 skos:exactMatch hgnc:AKAP11 semapv:UnspecifiedMatching +OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:369 semapv:UnspecifiedMatching +OMIM:604696 AKAP11 skos:exactMatch hgnc.symbol:AKAP11 semapv:UnspecifiedMatching OMIM:604696 AKAP11 skos:exactMatch ncbigene:11215 semapv:UnspecifiedMatching -OMIM:604697 CCL26 skos:exactMatch hgnc:CCL26 semapv:UnspecifiedMatching +OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:10625 semapv:UnspecifiedMatching +OMIM:604697 CCL26 skos:exactMatch hgnc.symbol:CCL26 semapv:UnspecifiedMatching OMIM:604697 CCL26 skos:exactMatch ncbigene:10344 semapv:UnspecifiedMatching -OMIM:604698 AKAP12 skos:exactMatch hgnc:AKAP12 semapv:UnspecifiedMatching +OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:370 semapv:UnspecifiedMatching +OMIM:604698 AKAP12 skos:exactMatch hgnc.symbol:AKAP12 semapv:UnspecifiedMatching OMIM:604698 AKAP12 skos:exactMatch ncbigene:9590 semapv:UnspecifiedMatching -OMIM:604699 ARFRP1 skos:exactMatch hgnc:ARFRP1 semapv:UnspecifiedMatching +OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:662 semapv:UnspecifiedMatching +OMIM:604699 ARFRP1 skos:exactMatch hgnc.symbol:ARFRP1 semapv:UnspecifiedMatching OMIM:604699 ARFRP1 skos:exactMatch ncbigene:10139 semapv:UnspecifiedMatching -OMIM:604700 TOM1 skos:exactMatch hgnc:TOM1 semapv:UnspecifiedMatching +OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:11982 semapv:UnspecifiedMatching +OMIM:604700 TOM1 skos:exactMatch hgnc.symbol:TOM1 semapv:UnspecifiedMatching OMIM:604700 TOM1 skos:exactMatch ncbigene:10043 semapv:UnspecifiedMatching -OMIM:604701 TOM1L1 skos:exactMatch hgnc:TOM1L1 semapv:UnspecifiedMatching +OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:11983 semapv:UnspecifiedMatching +OMIM:604701 TOM1L1 skos:exactMatch hgnc.symbol:TOM1L1 semapv:UnspecifiedMatching OMIM:604701 TOM1L1 skos:exactMatch ncbigene:10040 semapv:UnspecifiedMatching -OMIM:604702 HMGXB4 skos:exactMatch hgnc:HMGXB4 semapv:UnspecifiedMatching +OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:5003 semapv:UnspecifiedMatching +OMIM:604702 HMGXB4 skos:exactMatch hgnc.symbol:HMGXB4 semapv:UnspecifiedMatching OMIM:604702 HMGXB4 skos:exactMatch ncbigene:10042 semapv:UnspecifiedMatching -OMIM:604704 BCAR3 skos:exactMatch hgnc:BCAR3 semapv:UnspecifiedMatching +OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:973 semapv:UnspecifiedMatching +OMIM:604704 BCAR3 skos:exactMatch hgnc.symbol:BCAR3 semapv:UnspecifiedMatching OMIM:604704 BCAR3 skos:exactMatch ncbigene:8412 semapv:UnspecifiedMatching -OMIM:604705 MERTK skos:exactMatch hgnc:MERTK semapv:UnspecifiedMatching +OMIM:604705 MERTK skos:exactMatch hgnc.symbol:7027 semapv:UnspecifiedMatching +OMIM:604705 MERTK skos:exactMatch hgnc.symbol:MERTK semapv:UnspecifiedMatching OMIM:604705 MERTK skos:exactMatch ncbigene:10461 semapv:UnspecifiedMatching -OMIM:604707 AKR1B10 skos:exactMatch hgnc:AKR1B10 semapv:UnspecifiedMatching +OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:382 semapv:UnspecifiedMatching +OMIM:604707 AKR1B10 skos:exactMatch hgnc.symbol:AKR1B10 semapv:UnspecifiedMatching OMIM:604707 AKR1B10 skos:exactMatch ncbigene:57016 semapv:UnspecifiedMatching -OMIM:604708 NFAT5 skos:exactMatch hgnc:NFAT5 semapv:UnspecifiedMatching +OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:7774 semapv:UnspecifiedMatching +OMIM:604708 NFAT5 skos:exactMatch hgnc.symbol:NFAT5 semapv:UnspecifiedMatching OMIM:604708 NFAT5 skos:exactMatch ncbigene:10725 semapv:UnspecifiedMatching -OMIM:604709 TIAM2 skos:exactMatch hgnc:TIAM2 semapv:UnspecifiedMatching +OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:11806 semapv:UnspecifiedMatching +OMIM:604709 TIAM2 skos:exactMatch hgnc.symbol:TIAM2 semapv:UnspecifiedMatching OMIM:604709 TIAM2 skos:exactMatch ncbigene:26230 semapv:UnspecifiedMatching -OMIM:604710 LTBP4 skos:exactMatch hgnc:LTBP4 semapv:UnspecifiedMatching +OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:6717 semapv:UnspecifiedMatching +OMIM:604710 LTBP4 skos:exactMatch hgnc.symbol:LTBP4 semapv:UnspecifiedMatching OMIM:604710 LTBP4 skos:exactMatch ncbigene:8425 semapv:UnspecifiedMatching -OMIM:604711 UBL3 skos:exactMatch hgnc:UBL3 semapv:UnspecifiedMatching +OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:12504 semapv:UnspecifiedMatching +OMIM:604711 UBL3 skos:exactMatch hgnc.symbol:UBL3 semapv:UnspecifiedMatching OMIM:604711 UBL3 skos:exactMatch ncbigene:5412 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C1424883 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching -OMIM:604712 RRM2B skos:exactMatch hgnc:RRM2B semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:17296 semapv:UnspecifiedMatching +OMIM:604712 RRM2B skos:exactMatch hgnc.symbol:RRM2B semapv:UnspecifiedMatching OMIM:604712 RRM2B skos:exactMatch ncbigene:50484 semapv:UnspecifiedMatching -OMIM:604713 CLEC11A skos:exactMatch hgnc:CLEC11A semapv:UnspecifiedMatching +OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:10576 semapv:UnspecifiedMatching +OMIM:604713 CLEC11A skos:exactMatch hgnc.symbol:CLEC11A semapv:UnspecifiedMatching OMIM:604713 CLEC11A skos:exactMatch ncbigene:6320 semapv:UnspecifiedMatching -OMIM:604714 TSPYL1 skos:exactMatch hgnc:TSPYL1 semapv:UnspecifiedMatching +OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:12382 semapv:UnspecifiedMatching +OMIM:604714 TSPYL1 skos:exactMatch hgnc.symbol:TSPYL1 semapv:UnspecifiedMatching OMIM:604714 TSPYL1 skos:exactMatch ncbigene:7259 semapv:UnspecifiedMatching -OMIM:604716 UGT2A1 skos:exactMatch hgnc:UGT2A1 semapv:UnspecifiedMatching +OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:12542 semapv:UnspecifiedMatching +OMIM:604716 UGT2A1 skos:exactMatch hgnc.symbol:UGT2A1 semapv:UnspecifiedMatching OMIM:604716 UGT2A1 skos:exactMatch ncbigene:10941 semapv:UnspecifiedMatching -OMIM:604718 TTF2 skos:exactMatch hgnc:TTF2 semapv:UnspecifiedMatching +OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:12398 semapv:UnspecifiedMatching +OMIM:604718 TTF2 skos:exactMatch hgnc.symbol:TTF2 semapv:UnspecifiedMatching OMIM:604718 TTF2 skos:exactMatch ncbigene:8458 semapv:UnspecifiedMatching -OMIM:604719 STK16 skos:exactMatch hgnc:STK16 semapv:UnspecifiedMatching +OMIM:604719 STK16 skos:exactMatch hgnc.symbol:11394 semapv:UnspecifiedMatching +OMIM:604719 STK16 skos:exactMatch hgnc.symbol:STK16 semapv:UnspecifiedMatching OMIM:604719 STK16 skos:exactMatch ncbigene:8576 semapv:UnspecifiedMatching -OMIM:604720 TFR2 skos:exactMatch hgnc:TFR2 semapv:UnspecifiedMatching +OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:11762 semapv:UnspecifiedMatching +OMIM:604720 TFR2 skos:exactMatch hgnc.symbol:TFR2 semapv:UnspecifiedMatching OMIM:604720 TFR2 skos:exactMatch ncbigene:7036 semapv:UnspecifiedMatching -OMIM:604721 SH2D3A skos:exactMatch hgnc:SH2D3A semapv:UnspecifiedMatching +OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:16885 semapv:UnspecifiedMatching +OMIM:604721 SH2D3A skos:exactMatch hgnc.symbol:SH2D3A semapv:UnspecifiedMatching OMIM:604721 SH2D3A skos:exactMatch ncbigene:10045 semapv:UnspecifiedMatching -OMIM:604722 SH2D3C skos:exactMatch hgnc:SH2D3C semapv:UnspecifiedMatching +OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:16884 semapv:UnspecifiedMatching +OMIM:604722 SH2D3C skos:exactMatch hgnc.symbol:SH2D3C semapv:UnspecifiedMatching OMIM:604722 SH2D3C skos:exactMatch ncbigene:10044 semapv:UnspecifiedMatching -OMIM:604723 TSFM skos:exactMatch hgnc:TSFM semapv:UnspecifiedMatching +OMIM:604723 TSFM skos:exactMatch hgnc.symbol:12367 semapv:UnspecifiedMatching +OMIM:604723 TSFM skos:exactMatch hgnc.symbol:TSFM semapv:UnspecifiedMatching OMIM:604723 TSFM skos:exactMatch ncbigene:10102 semapv:UnspecifiedMatching -OMIM:604724 HPSE skos:exactMatch hgnc:HPSE semapv:UnspecifiedMatching +OMIM:604724 HPSE skos:exactMatch hgnc.symbol:5164 semapv:UnspecifiedMatching +OMIM:604724 HPSE skos:exactMatch hgnc.symbol:HPSE semapv:UnspecifiedMatching OMIM:604724 HPSE skos:exactMatch ncbigene:10855 semapv:UnspecifiedMatching -OMIM:604725 USP2 skos:exactMatch hgnc:USP2 semapv:UnspecifiedMatching +OMIM:604725 USP2 skos:exactMatch hgnc.symbol:12618 semapv:UnspecifiedMatching +OMIM:604725 USP2 skos:exactMatch hgnc.symbol:USP2 semapv:UnspecifiedMatching OMIM:604725 USP2 skos:exactMatch ncbigene:9099 semapv:UnspecifiedMatching -OMIM:604726 STK17A skos:exactMatch hgnc:STK17A semapv:UnspecifiedMatching +OMIM:604726 STK17A skos:exactMatch hgnc.symbol:11395 semapv:UnspecifiedMatching +OMIM:604726 STK17A skos:exactMatch hgnc.symbol:STK17A semapv:UnspecifiedMatching OMIM:604726 STK17A skos:exactMatch ncbigene:9263 semapv:UnspecifiedMatching -OMIM:604727 STK17B skos:exactMatch hgnc:STK17B semapv:UnspecifiedMatching +OMIM:604727 STK17B skos:exactMatch hgnc.symbol:11396 semapv:UnspecifiedMatching +OMIM:604727 STK17B skos:exactMatch hgnc.symbol:STK17B semapv:UnspecifiedMatching OMIM:604727 STK17B skos:exactMatch ncbigene:9262 semapv:UnspecifiedMatching -OMIM:604728 USP3 skos:exactMatch hgnc:USP3 semapv:UnspecifiedMatching +OMIM:604728 USP3 skos:exactMatch hgnc.symbol:12626 semapv:UnspecifiedMatching +OMIM:604728 USP3 skos:exactMatch hgnc.symbol:USP3 semapv:UnspecifiedMatching OMIM:604728 USP3 skos:exactMatch ncbigene:9960 semapv:UnspecifiedMatching -OMIM:604729 USP21 skos:exactMatch hgnc:USP21 semapv:UnspecifiedMatching +OMIM:604729 USP21 skos:exactMatch hgnc.symbol:12620 semapv:UnspecifiedMatching +OMIM:604729 USP21 skos:exactMatch hgnc.symbol:USP21 semapv:UnspecifiedMatching OMIM:604729 USP21 skos:exactMatch ncbigene:27005 semapv:UnspecifiedMatching -OMIM:604730 TULP3 skos:exactMatch hgnc:TULP3 semapv:UnspecifiedMatching +OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:12425 semapv:UnspecifiedMatching +OMIM:604730 TULP3 skos:exactMatch hgnc.symbol:TULP3 semapv:UnspecifiedMatching OMIM:604730 TULP3 skos:exactMatch ncbigene:7289 semapv:UnspecifiedMatching -OMIM:604731 USP15 skos:exactMatch hgnc:USP15 semapv:UnspecifiedMatching +OMIM:604731 USP15 skos:exactMatch hgnc.symbol:12613 semapv:UnspecifiedMatching +OMIM:604731 USP15 skos:exactMatch hgnc.symbol:USP15 semapv:UnspecifiedMatching OMIM:604731 USP15 skos:exactMatch ncbigene:9958 semapv:UnspecifiedMatching -OMIM:604732 TFEC skos:exactMatch hgnc:TFEC semapv:UnspecifiedMatching +OMIM:604732 TFEC skos:exactMatch hgnc.symbol:11754 semapv:UnspecifiedMatching +OMIM:604732 TFEC skos:exactMatch hgnc.symbol:TFEC semapv:UnspecifiedMatching OMIM:604732 TFEC skos:exactMatch ncbigene:22797 semapv:UnspecifiedMatching -OMIM:604733 WARS2 skos:exactMatch hgnc:WARS2 semapv:UnspecifiedMatching +OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:12730 semapv:UnspecifiedMatching +OMIM:604733 WARS2 skos:exactMatch hgnc.symbol:WARS2 semapv:UnspecifiedMatching OMIM:604733 WARS2 skos:exactMatch ncbigene:10352 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch UMLS:C0272174 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch UMLS:C1421493 semapv:UnspecifiedMatching -OMIM:604734 WDR1 skos:exactMatch hgnc:WDR1 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:12754 semapv:UnspecifiedMatching +OMIM:604734 WDR1 skos:exactMatch hgnc.symbol:WDR1 semapv:UnspecifiedMatching OMIM:604734 WDR1 skos:exactMatch ncbigene:9948 semapv:UnspecifiedMatching -OMIM:604735 USP16 skos:exactMatch hgnc:USP16 semapv:UnspecifiedMatching +OMIM:604735 USP16 skos:exactMatch hgnc.symbol:12614 semapv:UnspecifiedMatching +OMIM:604735 USP16 skos:exactMatch hgnc.symbol:USP16 semapv:UnspecifiedMatching OMIM:604735 USP16 skos:exactMatch ncbigene:10600 semapv:UnspecifiedMatching -OMIM:604736 USP25 skos:exactMatch hgnc:USP25 semapv:UnspecifiedMatching +OMIM:604736 USP25 skos:exactMatch hgnc.symbol:12624 semapv:UnspecifiedMatching +OMIM:604736 USP25 skos:exactMatch hgnc.symbol:USP25 semapv:UnspecifiedMatching OMIM:604736 USP25 skos:exactMatch ncbigene:29761 semapv:UnspecifiedMatching -OMIM:604737 WDR3 skos:exactMatch hgnc:WDR3 semapv:UnspecifiedMatching +OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:12755 semapv:UnspecifiedMatching +OMIM:604737 WDR3 skos:exactMatch hgnc.symbol:WDR3 semapv:UnspecifiedMatching OMIM:604737 WDR3 skos:exactMatch ncbigene:10885 semapv:UnspecifiedMatching -OMIM:604738 CCR9 skos:exactMatch hgnc:CCR9 semapv:UnspecifiedMatching +OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:1610 semapv:UnspecifiedMatching +OMIM:604738 CCR9 skos:exactMatch hgnc.symbol:CCR9 semapv:UnspecifiedMatching OMIM:604738 CCR9 skos:exactMatch ncbigene:10803 semapv:UnspecifiedMatching OMIM:604739 RBM39 skos:exactMatch UMLS:C1826781 semapv:UnspecifiedMatching -OMIM:604739 RBM39 skos:exactMatch hgnc:RBM39 semapv:UnspecifiedMatching +OMIM:604739 RBM39 skos:exactMatch hgnc.symbol:15923 semapv:UnspecifiedMatching +OMIM:604739 RBM39 skos:exactMatch hgnc.symbol:RBM39 semapv:UnspecifiedMatching OMIM:604739 RBM39 skos:exactMatch ncbigene:9584 semapv:UnspecifiedMatching -OMIM:604740 SLC39A1 skos:exactMatch hgnc:SLC39A1 semapv:UnspecifiedMatching +OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:12876 semapv:UnspecifiedMatching +OMIM:604740 SLC39A1 skos:exactMatch hgnc.symbol:SLC39A1 semapv:UnspecifiedMatching OMIM:604740 SLC39A1 skos:exactMatch ncbigene:27173 semapv:UnspecifiedMatching -OMIM:604741 AKR1D1 skos:exactMatch hgnc:AKR1D1 semapv:UnspecifiedMatching +OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:388 semapv:UnspecifiedMatching +OMIM:604741 AKR1D1 skos:exactMatch hgnc.symbol:AKR1D1 semapv:UnspecifiedMatching OMIM:604741 AKR1D1 skos:exactMatch ncbigene:6718 semapv:UnspecifiedMatching -OMIM:604742 DCLK1 skos:exactMatch hgnc:DCLK1 semapv:UnspecifiedMatching +OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:2700 semapv:UnspecifiedMatching +OMIM:604742 DCLK1 skos:exactMatch hgnc.symbol:DCLK1 semapv:UnspecifiedMatching OMIM:604742 DCLK1 skos:exactMatch ncbigene:9201 semapv:UnspecifiedMatching -OMIM:604743 DDAH1 skos:exactMatch hgnc:DDAH1 semapv:UnspecifiedMatching +OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:2715 semapv:UnspecifiedMatching +OMIM:604743 DDAH1 skos:exactMatch hgnc.symbol:DDAH1 semapv:UnspecifiedMatching OMIM:604743 DDAH1 skos:exactMatch ncbigene:23576 semapv:UnspecifiedMatching -OMIM:604744 DDAH2 skos:exactMatch hgnc:DDAH2 semapv:UnspecifiedMatching +OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:2716 semapv:UnspecifiedMatching +OMIM:604744 DDAH2 skos:exactMatch hgnc.symbol:DDAH2 semapv:UnspecifiedMatching OMIM:604744 DDAH2 skos:exactMatch ncbigene:23564 semapv:UnspecifiedMatching -OMIM:604745 TCFL5 skos:exactMatch hgnc:TCFL5 semapv:UnspecifiedMatching +OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:11646 semapv:UnspecifiedMatching +OMIM:604745 TCFL5 skos:exactMatch hgnc.symbol:TCFL5 semapv:UnspecifiedMatching OMIM:604745 TCFL5 skos:exactMatch ncbigene:10732 semapv:UnspecifiedMatching -OMIM:604746 TESK2 skos:exactMatch hgnc:TESK2 semapv:UnspecifiedMatching +OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:11732 semapv:UnspecifiedMatching +OMIM:604746 TESK2 skos:exactMatch hgnc.symbol:TESK2 semapv:UnspecifiedMatching OMIM:604746 TESK2 skos:exactMatch ncbigene:10420 semapv:UnspecifiedMatching -OMIM:604747 SOX14 skos:exactMatch hgnc:SOX14 semapv:UnspecifiedMatching +OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:11193 semapv:UnspecifiedMatching +OMIM:604747 SOX14 skos:exactMatch hgnc.symbol:SOX14 semapv:UnspecifiedMatching OMIM:604747 SOX14 skos:exactMatch ncbigene:8403 semapv:UnspecifiedMatching -OMIM:604748 SOX13 skos:exactMatch hgnc:SOX13 semapv:UnspecifiedMatching +OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:11192 semapv:UnspecifiedMatching +OMIM:604748 SOX13 skos:exactMatch hgnc.symbol:SOX13 semapv:UnspecifiedMatching OMIM:604748 SOX13 skos:exactMatch ncbigene:9580 semapv:UnspecifiedMatching -OMIM:604749 ZNF235 skos:exactMatch hgnc:ZNF235 semapv:UnspecifiedMatching +OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:12866 semapv:UnspecifiedMatching +OMIM:604749 ZNF235 skos:exactMatch hgnc.symbol:ZNF235 semapv:UnspecifiedMatching OMIM:604749 ZNF235 skos:exactMatch ncbigene:9310 semapv:UnspecifiedMatching -OMIM:604750 ZNF234 skos:exactMatch hgnc:ZNF234 semapv:UnspecifiedMatching +OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:13027 semapv:UnspecifiedMatching +OMIM:604750 ZNF234 skos:exactMatch hgnc.symbol:ZNF234 semapv:UnspecifiedMatching OMIM:604750 ZNF234 skos:exactMatch ncbigene:10780 semapv:UnspecifiedMatching -OMIM:604751 ZNF266 skos:exactMatch hgnc:ZNF266 semapv:UnspecifiedMatching +OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:13059 semapv:UnspecifiedMatching +OMIM:604751 ZNF266 skos:exactMatch hgnc.symbol:ZNF266 semapv:UnspecifiedMatching OMIM:604751 ZNF266 skos:exactMatch ncbigene:10781 semapv:UnspecifiedMatching -OMIM:604752 ZNF267 skos:exactMatch hgnc:ZNF267 semapv:UnspecifiedMatching +OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:13060 semapv:UnspecifiedMatching +OMIM:604752 ZNF267 skos:exactMatch hgnc.symbol:ZNF267 semapv:UnspecifiedMatching OMIM:604752 ZNF267 skos:exactMatch ncbigene:10308 semapv:UnspecifiedMatching -OMIM:604753 ZNF268 skos:exactMatch hgnc:ZNF268 semapv:UnspecifiedMatching +OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:13061 semapv:UnspecifiedMatching +OMIM:604753 ZNF268 skos:exactMatch hgnc.symbol:ZNF268 semapv:UnspecifiedMatching OMIM:604753 ZNF268 skos:exactMatch ncbigene:10795 semapv:UnspecifiedMatching -OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc:ZNF271P semapv:UnspecifiedMatching -OMIM:604755 ZNF272 skos:exactMatch hgnc:ZNF460 semapv:UnspecifiedMatching +OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:13065 semapv:UnspecifiedMatching +OMIM:604754 zinc finger protein 271, pseudogene skos:exactMatch hgnc.symbol:ZNF271P semapv:UnspecifiedMatching +OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:21628 semapv:UnspecifiedMatching +OMIM:604755 ZNF272 skos:exactMatch hgnc.symbol:ZNF460 semapv:UnspecifiedMatching OMIM:604755 ZNF272 skos:exactMatch ncbigene:10794 semapv:UnspecifiedMatching -OMIM:604756 ZNF273 skos:exactMatch hgnc:ZNF273 semapv:UnspecifiedMatching +OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:13067 semapv:UnspecifiedMatching +OMIM:604756 ZNF273 skos:exactMatch hgnc.symbol:ZNF273 semapv:UnspecifiedMatching OMIM:604756 ZNF273 skos:exactMatch ncbigene:10793 semapv:UnspecifiedMatching -OMIM:604758 RELB skos:exactMatch hgnc:RELB semapv:UnspecifiedMatching +OMIM:604758 RELB skos:exactMatch hgnc.symbol:9956 semapv:UnspecifiedMatching +OMIM:604758 RELB skos:exactMatch hgnc.symbol:RELB semapv:UnspecifiedMatching OMIM:604758 RELB skos:exactMatch ncbigene:5971 semapv:UnspecifiedMatching -OMIM:604759 SYCP3 skos:exactMatch hgnc:SYCP3 semapv:UnspecifiedMatching +OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:18130 semapv:UnspecifiedMatching +OMIM:604759 SYCP3 skos:exactMatch hgnc.symbol:SYCP3 semapv:UnspecifiedMatching OMIM:604759 SYCP3 skos:exactMatch ncbigene:50511 semapv:UnspecifiedMatching OMIM:604760 ZNF236 skos:exactMatch UMLS:C1421723 semapv:UnspecifiedMatching -OMIM:604760 ZNF236 skos:exactMatch hgnc:ZNF236 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:13028 semapv:UnspecifiedMatching +OMIM:604760 ZNF236 skos:exactMatch hgnc.symbol:ZNF236 semapv:UnspecifiedMatching OMIM:604760 ZNF236 skos:exactMatch ncbigene:7776 semapv:UnspecifiedMatching -OMIM:604761 ZFAND5 skos:exactMatch hgnc:ZFAND5 semapv:UnspecifiedMatching +OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:13008 semapv:UnspecifiedMatching +OMIM:604761 ZFAND5 skos:exactMatch hgnc.symbol:ZFAND5 semapv:UnspecifiedMatching OMIM:604761 ZFAND5 skos:exactMatch ncbigene:7763 semapv:UnspecifiedMatching -OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc:SWAP70 semapv:UnspecifiedMatching +OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:17070 semapv:UnspecifiedMatching +OMIM:604762 switch-associated protein 70 skos:exactMatch hgnc.symbol:SWAP70 semapv:UnspecifiedMatching OMIM:604762 switch-associated protein 70 skos:exactMatch ncbigene:23075 semapv:UnspecifiedMatching -OMIM:604763 ARHGEF12 skos:exactMatch hgnc:ARHGEF12 semapv:UnspecifiedMatching +OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:14193 semapv:UnspecifiedMatching +OMIM:604763 ARHGEF12 skos:exactMatch hgnc.symbol:ARHGEF12 semapv:UnspecifiedMatching OMIM:604763 ARHGEF12 skos:exactMatch ncbigene:23365 semapv:UnspecifiedMatching -OMIM:604764 ZHX1 skos:exactMatch hgnc:ZHX1 semapv:UnspecifiedMatching +OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:12871 semapv:UnspecifiedMatching +OMIM:604764 ZHX1 skos:exactMatch hgnc.symbol:ZHX1 semapv:UnspecifiedMatching OMIM:604764 ZHX1 skos:exactMatch ncbigene:11244 semapv:UnspecifiedMatching +OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch UMLS:C1858154 semapv:UnspecifiedMatching -OMIM:604765 cardiomyopathy, dilated, 1i skos:exactMatch orphanet.ordo:154 semapv:UnspecifiedMatching -OMIM:604766 NPHS2 skos:exactMatch hgnc:NPHS2 semapv:UnspecifiedMatching +OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:13394 semapv:UnspecifiedMatching +OMIM:604766 NPHS2 skos:exactMatch hgnc.symbol:NPHS2 semapv:UnspecifiedMatching OMIM:604766 NPHS2 skos:exactMatch ncbigene:7827 semapv:UnspecifiedMatching -OMIM:604767 DEC1 skos:exactMatch hgnc:DELEC1 semapv:UnspecifiedMatching +OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:23658 semapv:UnspecifiedMatching +OMIM:604767 DEC1 skos:exactMatch hgnc.symbol:DELEC1 semapv:UnspecifiedMatching OMIM:604767 DEC1 skos:exactMatch ncbigene:50514 semapv:UnspecifiedMatching -OMIM:604768 ZNF254 skos:exactMatch hgnc:ZNF254 semapv:UnspecifiedMatching +OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:13047 semapv:UnspecifiedMatching +OMIM:604768 ZNF254 skos:exactMatch hgnc.symbol:ZNF254 semapv:UnspecifiedMatching OMIM:604768 ZNF254 skos:exactMatch ncbigene:9534 semapv:UnspecifiedMatching -OMIM:604769 PRDX3 skos:exactMatch hgnc:PRDX3 semapv:UnspecifiedMatching +OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:9354 semapv:UnspecifiedMatching +OMIM:604769 PRDX3 skos:exactMatch hgnc.symbol:PRDX3 semapv:UnspecifiedMatching OMIM:604769 PRDX3 skos:exactMatch ncbigene:10935 semapv:UnspecifiedMatching -OMIM:604770 ACAA2 skos:exactMatch hgnc:ACAA2 semapv:UnspecifiedMatching +OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:83 semapv:UnspecifiedMatching +OMIM:604770 ACAA2 skos:exactMatch hgnc.symbol:ACAA2 semapv:UnspecifiedMatching OMIM:604770 ACAA2 skos:exactMatch ncbigene:10449 semapv:UnspecifiedMatching +OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch UMLS:C1631597 semapv:UnspecifiedMatching -OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy skos:exactMatch orphanet.ordo:3286 semapv:UnspecifiedMatching -OMIM:604773 ACAD8 skos:exactMatch hgnc:ACAD8 semapv:UnspecifiedMatching +OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:87 semapv:UnspecifiedMatching +OMIM:604773 ACAD8 skos:exactMatch hgnc.symbol:ACAD8 semapv:UnspecifiedMatching OMIM:604773 ACAD8 skos:exactMatch ncbigene:27034 semapv:UnspecifiedMatching -OMIM:604774 ANGPTL3 skos:exactMatch hgnc:ANGPTL3 semapv:UnspecifiedMatching +OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:491 semapv:UnspecifiedMatching +OMIM:604774 ANGPTL3 skos:exactMatch hgnc.symbol:ANGPTL3 semapv:UnspecifiedMatching OMIM:604774 ANGPTL3 skos:exactMatch ncbigene:27329 semapv:UnspecifiedMatching OMIM:604775 TRPA1 skos:exactMatch UMLS:C1412407 semapv:UnspecifiedMatching OMIM:604775 TRPA1 skos:exactMatch UMLS:C3808667 semapv:UnspecifiedMatching -OMIM:604775 TRPA1 skos:exactMatch hgnc:TRPA1 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:497 semapv:UnspecifiedMatching +OMIM:604775 TRPA1 skos:exactMatch hgnc.symbol:TRPA1 semapv:UnspecifiedMatching OMIM:604775 TRPA1 skos:exactMatch ncbigene:8989 semapv:UnspecifiedMatching -OMIM:604776 HLA-DRB5 skos:exactMatch hgnc:HLA-DRB5 semapv:UnspecifiedMatching +OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:4953 semapv:UnspecifiedMatching +OMIM:604776 HLA-DRB5 skos:exactMatch hgnc.symbol:HLA-DRB5 semapv:UnspecifiedMatching OMIM:604776 HLA-DRB5 skos:exactMatch ncbigene:3127 semapv:UnspecifiedMatching -OMIM:604778 ADAM29 skos:exactMatch hgnc:ADAM29 semapv:UnspecifiedMatching +OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:207 semapv:UnspecifiedMatching +OMIM:604778 ADAM29 skos:exactMatch hgnc.symbol:ADAM29 semapv:UnspecifiedMatching OMIM:604778 ADAM29 skos:exactMatch ncbigene:11086 semapv:UnspecifiedMatching -OMIM:604779 ADAM30 skos:exactMatch hgnc:ADAM30 semapv:UnspecifiedMatching +OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:208 semapv:UnspecifiedMatching +OMIM:604779 ADAM30 skos:exactMatch hgnc.symbol:ADAM30 semapv:UnspecifiedMatching OMIM:604779 ADAM30 skos:exactMatch ncbigene:11085 semapv:UnspecifiedMatching OMIM:604780 ABHD5 skos:exactMatch UMLS:C0268238 semapv:UnspecifiedMatching OMIM:604780 ABHD5 skos:exactMatch UMLS:C1427541 semapv:UnspecifiedMatching -OMIM:604780 ABHD5 skos:exactMatch hgnc:ABHD5 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:21396 semapv:UnspecifiedMatching +OMIM:604780 ABHD5 skos:exactMatch hgnc.symbol:ABHD5 semapv:UnspecifiedMatching OMIM:604780 ABHD5 skos:exactMatch ncbigene:51099 semapv:UnspecifiedMatching -OMIM:604782 ASH2L skos:exactMatch hgnc:ASH2L semapv:UnspecifiedMatching +OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:744 semapv:UnspecifiedMatching +OMIM:604782 ASH2L skos:exactMatch hgnc.symbol:ASH2L semapv:UnspecifiedMatching OMIM:604782 ASH2L skos:exactMatch ncbigene:9070 semapv:UnspecifiedMatching -OMIM:604783 CLPTM1 skos:exactMatch hgnc:CLPTM1 semapv:UnspecifiedMatching +OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:2087 semapv:UnspecifiedMatching +OMIM:604783 CLPTM1 skos:exactMatch hgnc.symbol:CLPTM1 semapv:UnspecifiedMatching OMIM:604783 CLPTM1 skos:exactMatch ncbigene:1209 semapv:UnspecifiedMatching -OMIM:604784 TCEA2 skos:exactMatch hgnc:TCEA2 semapv:UnspecifiedMatching +OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:11614 semapv:UnspecifiedMatching +OMIM:604784 TCEA2 skos:exactMatch hgnc.symbol:TCEA2 semapv:UnspecifiedMatching OMIM:604784 TCEA2 skos:exactMatch ncbigene:6919 semapv:UnspecifiedMatching -OMIM:604785 CTNNAL1 skos:exactMatch hgnc:CTNNAL1 semapv:UnspecifiedMatching +OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:2512 semapv:UnspecifiedMatching +OMIM:604785 CTNNAL1 skos:exactMatch hgnc.symbol:CTNNAL1 semapv:UnspecifiedMatching OMIM:604785 CTNNAL1 skos:exactMatch ncbigene:8727 semapv:UnspecifiedMatching OMIM:604786 ARL4A skos:exactMatch UMLS:C1538929 semapv:UnspecifiedMatching -OMIM:604786 ARL4A skos:exactMatch hgnc:ARL4A semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:695 semapv:UnspecifiedMatching +OMIM:604786 ARL4A skos:exactMatch hgnc.symbol:ARL4A semapv:UnspecifiedMatching OMIM:604786 ARL4A skos:exactMatch ncbigene:10124 semapv:UnspecifiedMatching OMIM:604787 ARL4C skos:exactMatch UMLS:C1824201 semapv:UnspecifiedMatching -OMIM:604787 ARL4C skos:exactMatch hgnc:ARL4C semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:698 semapv:UnspecifiedMatching +OMIM:604787 ARL4C skos:exactMatch hgnc.symbol:ARL4C semapv:UnspecifiedMatching OMIM:604787 ARL4C skos:exactMatch ncbigene:10123 semapv:UnspecifiedMatching -OMIM:604788 RUVBL2 skos:exactMatch hgnc:RUVBL2 semapv:UnspecifiedMatching +OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:10475 semapv:UnspecifiedMatching +OMIM:604788 RUVBL2 skos:exactMatch hgnc.symbol:RUVBL2 semapv:UnspecifiedMatching OMIM:604788 RUVBL2 skos:exactMatch ncbigene:10856 semapv:UnspecifiedMatching -OMIM:604789 ITGA11 skos:exactMatch hgnc:ITGA11 semapv:UnspecifiedMatching +OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:6136 semapv:UnspecifiedMatching +OMIM:604789 ITGA11 skos:exactMatch hgnc.symbol:ITGA11 semapv:UnspecifiedMatching OMIM:604789 ITGA11 skos:exactMatch ncbigene:22801 semapv:UnspecifiedMatching -OMIM:604790 TAS2R14 skos:exactMatch hgnc:TAS2R14 semapv:UnspecifiedMatching +OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:14920 semapv:UnspecifiedMatching +OMIM:604790 TAS2R14 skos:exactMatch hgnc.symbol:TAS2R14 semapv:UnspecifiedMatching OMIM:604790 TAS2R14 skos:exactMatch ncbigene:50840 semapv:UnspecifiedMatching -OMIM:604791 TAS2R10 skos:exactMatch hgnc:TAS2R10 semapv:UnspecifiedMatching +OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:14918 semapv:UnspecifiedMatching +OMIM:604791 TAS2R10 skos:exactMatch hgnc.symbol:TAS2R10 semapv:UnspecifiedMatching OMIM:604791 TAS2R10 skos:exactMatch ncbigene:50839 semapv:UnspecifiedMatching -OMIM:604792 TAS2R13 skos:exactMatch hgnc:TAS2R13 semapv:UnspecifiedMatching +OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:14919 semapv:UnspecifiedMatching +OMIM:604792 TAS2R13 skos:exactMatch hgnc.symbol:TAS2R13 semapv:UnspecifiedMatching OMIM:604792 TAS2R13 skos:exactMatch ncbigene:50838 semapv:UnspecifiedMatching -OMIM:604793 TAS2R7 skos:exactMatch hgnc:TAS2R7 semapv:UnspecifiedMatching +OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:14913 semapv:UnspecifiedMatching +OMIM:604793 TAS2R7 skos:exactMatch hgnc.symbol:TAS2R7 semapv:UnspecifiedMatching OMIM:604793 TAS2R7 skos:exactMatch ncbigene:50837 semapv:UnspecifiedMatching -OMIM:604794 TAS2R8 skos:exactMatch hgnc:TAS2R8 semapv:UnspecifiedMatching +OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:14915 semapv:UnspecifiedMatching +OMIM:604794 TAS2R8 skos:exactMatch hgnc.symbol:TAS2R8 semapv:UnspecifiedMatching OMIM:604794 TAS2R8 skos:exactMatch ncbigene:50836 semapv:UnspecifiedMatching -OMIM:604795 TAS2R9 skos:exactMatch hgnc:TAS2R9 semapv:UnspecifiedMatching +OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:14917 semapv:UnspecifiedMatching +OMIM:604795 TAS2R9 skos:exactMatch hgnc.symbol:TAS2R9 semapv:UnspecifiedMatching OMIM:604795 TAS2R9 skos:exactMatch ncbigene:50835 semapv:UnspecifiedMatching -OMIM:604796 TAS2R1 skos:exactMatch hgnc:TAS2R1 semapv:UnspecifiedMatching +OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:14909 semapv:UnspecifiedMatching +OMIM:604796 TAS2R1 skos:exactMatch hgnc.symbol:TAS2R1 semapv:UnspecifiedMatching OMIM:604796 TAS2R1 skos:exactMatch ncbigene:50834 semapv:UnspecifiedMatching -OMIM:604797 APOBEC2 skos:exactMatch hgnc:APOBEC2 semapv:UnspecifiedMatching +OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:605 semapv:UnspecifiedMatching +OMIM:604797 APOBEC2 skos:exactMatch hgnc.symbol:APOBEC2 semapv:UnspecifiedMatching OMIM:604797 APOBEC2 skos:exactMatch ncbigene:10930 semapv:UnspecifiedMatching -OMIM:604798 HOMER1 skos:exactMatch hgnc:HOMER1 semapv:UnspecifiedMatching +OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:17512 semapv:UnspecifiedMatching +OMIM:604798 HOMER1 skos:exactMatch hgnc.symbol:HOMER1 semapv:UnspecifiedMatching OMIM:604798 HOMER1 skos:exactMatch ncbigene:9456 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch UMLS:C1424987 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching -OMIM:604799 HOMER2 skos:exactMatch hgnc:HOMER2 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:17513 semapv:UnspecifiedMatching +OMIM:604799 HOMER2 skos:exactMatch hgnc.symbol:HOMER2 semapv:UnspecifiedMatching OMIM:604799 HOMER2 skos:exactMatch ncbigene:9455 semapv:UnspecifiedMatching -OMIM:604800 HOMER3 skos:exactMatch hgnc:HOMER3 semapv:UnspecifiedMatching +OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:17514 semapv:UnspecifiedMatching +OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:HOMER3 semapv:UnspecifiedMatching OMIM:604800 HOMER3 skos:exactMatch ncbigene:9454 semapv:UnspecifiedMatching +OMIM:604802 huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching OMIM:604802 huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching -OMIM:604802 huntington disease-like 3 skos:exactMatch orphanet.ordo:157946 semapv:UnspecifiedMatching OMIM:604803 DOP1B skos:exactMatch UMLS:C1876213 semapv:UnspecifiedMatching -OMIM:604803 DOP1B skos:exactMatch hgnc:DOP1B semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:1291 semapv:UnspecifiedMatching +OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:DOP1B semapv:UnspecifiedMatching OMIM:604803 DOP1B skos:exactMatch ncbigene:9980 semapv:UnspecifiedMatching -OMIM:604806 FLRT1 skos:exactMatch hgnc:FLRT1 semapv:UnspecifiedMatching +OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:3760 semapv:UnspecifiedMatching +OMIM:604806 FLRT1 skos:exactMatch hgnc.symbol:FLRT1 semapv:UnspecifiedMatching OMIM:604806 FLRT1 skos:exactMatch ncbigene:23769 semapv:UnspecifiedMatching -OMIM:604807 FLRT2 skos:exactMatch hgnc:FLRT2 semapv:UnspecifiedMatching +OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:3761 semapv:UnspecifiedMatching +OMIM:604807 FLRT2 skos:exactMatch hgnc.symbol:FLRT2 semapv:UnspecifiedMatching OMIM:604807 FLRT2 skos:exactMatch ncbigene:23768 semapv:UnspecifiedMatching -OMIM:604808 FLRT3 skos:exactMatch hgnc:FLRT3 semapv:UnspecifiedMatching +OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:3762 semapv:UnspecifiedMatching +OMIM:604808 FLRT3 skos:exactMatch hgnc.symbol:FLRT3 semapv:UnspecifiedMatching OMIM:604808 FLRT3 skos:exactMatch ncbigene:23767 semapv:UnspecifiedMatching -OMIM:604810 LILRA1 skos:exactMatch hgnc:LILRA1 semapv:UnspecifiedMatching +OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:6602 semapv:UnspecifiedMatching +OMIM:604810 LILRA1 skos:exactMatch hgnc.symbol:LILRA1 semapv:UnspecifiedMatching OMIM:604810 LILRA1 skos:exactMatch ncbigene:11024 semapv:UnspecifiedMatching -OMIM:604811 LILRB1 skos:exactMatch hgnc:LILRB1 semapv:UnspecifiedMatching +OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:6605 semapv:UnspecifiedMatching +OMIM:604811 LILRB1 skos:exactMatch hgnc.symbol:LILRB1 semapv:UnspecifiedMatching OMIM:604811 LILRB1 skos:exactMatch ncbigene:10859 semapv:UnspecifiedMatching -OMIM:604812 LILRA2 skos:exactMatch hgnc:LILRA2 semapv:UnspecifiedMatching +OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:6603 semapv:UnspecifiedMatching +OMIM:604812 LILRA2 skos:exactMatch hgnc.symbol:LILRA2 semapv:UnspecifiedMatching OMIM:604812 LILRA2 skos:exactMatch ncbigene:11027 semapv:UnspecifiedMatching -OMIM:604813 COX17 skos:exactMatch hgnc:COX17 semapv:UnspecifiedMatching +OMIM:604813 COX17 skos:exactMatch hgnc.symbol:2264 semapv:UnspecifiedMatching +OMIM:604813 COX17 skos:exactMatch hgnc.symbol:COX17 semapv:UnspecifiedMatching OMIM:604813 COX17 skos:exactMatch ncbigene:10063 semapv:UnspecifiedMatching -OMIM:604814 LILRB5 skos:exactMatch hgnc:LILRB5 semapv:UnspecifiedMatching +OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:6609 semapv:UnspecifiedMatching +OMIM:604814 LILRB5 skos:exactMatch hgnc.symbol:LILRB5 semapv:UnspecifiedMatching OMIM:604814 LILRB5 skos:exactMatch ncbigene:10990 semapv:UnspecifiedMatching -OMIM:604815 LILRB2 skos:exactMatch hgnc:LILRB2 semapv:UnspecifiedMatching +OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:6606 semapv:UnspecifiedMatching +OMIM:604815 LILRB2 skos:exactMatch hgnc.symbol:LILRB2 semapv:UnspecifiedMatching OMIM:604815 LILRB2 skos:exactMatch ncbigene:10288 semapv:UnspecifiedMatching -OMIM:604817 CHST5 skos:exactMatch hgnc:CHST5 semapv:UnspecifiedMatching +OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:1973 semapv:UnspecifiedMatching +OMIM:604817 CHST5 skos:exactMatch hgnc.symbol:CHST5 semapv:UnspecifiedMatching OMIM:604817 CHST5 skos:exactMatch ncbigene:23563 semapv:UnspecifiedMatching -OMIM:604818 LILRA3 skos:exactMatch hgnc:LILRA3 semapv:UnspecifiedMatching +OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:6604 semapv:UnspecifiedMatching +OMIM:604818 LILRA3 skos:exactMatch hgnc.symbol:LILRA3 semapv:UnspecifiedMatching OMIM:604818 LILRA3 skos:exactMatch ncbigene:11026 semapv:UnspecifiedMatching OMIM:604819 PUF60 skos:exactMatch UMLS:C1858105 semapv:UnspecifiedMatching OMIM:604819 PUF60 skos:exactMatch UMLS:C3810023 semapv:UnspecifiedMatching -OMIM:604819 PUF60 skos:exactMatch hgnc:PUF60 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:17042 semapv:UnspecifiedMatching +OMIM:604819 PUF60 skos:exactMatch hgnc.symbol:PUF60 semapv:UnspecifiedMatching OMIM:604819 PUF60 skos:exactMatch ncbigene:22827 semapv:UnspecifiedMatching -OMIM:604820 LILRB3 skos:exactMatch hgnc:LILRB3 semapv:UnspecifiedMatching +OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:6607 semapv:UnspecifiedMatching +OMIM:604820 LILRB3 skos:exactMatch hgnc.symbol:LILRB3 semapv:UnspecifiedMatching OMIM:604820 LILRB3 skos:exactMatch ncbigene:11025 semapv:UnspecifiedMatching -OMIM:604821 LILRB4 skos:exactMatch hgnc:LILRB4 semapv:UnspecifiedMatching +OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:6608 semapv:UnspecifiedMatching +OMIM:604821 LILRB4 skos:exactMatch hgnc.symbol:LILRB4 semapv:UnspecifiedMatching OMIM:604821 LILRB4 skos:exactMatch ncbigene:11006 semapv:UnspecifiedMatching -OMIM:604822 CAPN11 skos:exactMatch hgnc:CAPN11 semapv:UnspecifiedMatching +OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:1478 semapv:UnspecifiedMatching +OMIM:604822 CAPN11 skos:exactMatch hgnc.symbol:CAPN11 semapv:UnspecifiedMatching OMIM:604822 CAPN11 skos:exactMatch ncbigene:11131 semapv:UnspecifiedMatching -OMIM:604823 BARX2 skos:exactMatch hgnc:BARX2 semapv:UnspecifiedMatching +OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:956 semapv:UnspecifiedMatching +OMIM:604823 BARX2 skos:exactMatch hgnc.symbol:BARX2 semapv:UnspecifiedMatching OMIM:604823 BARX2 skos:exactMatch ncbigene:8538 semapv:UnspecifiedMatching -OMIM:604824 KL skos:exactMatch hgnc:KL semapv:UnspecifiedMatching +OMIM:604824 KL skos:exactMatch hgnc.symbol:6344 semapv:UnspecifiedMatching +OMIM:604824 KL skos:exactMatch hgnc.symbol:KL semapv:UnspecifiedMatching OMIM:604824 KL skos:exactMatch ncbigene:9365 semapv:UnspecifiedMatching -OMIM:604825 FEZ1 skos:exactMatch hgnc:FEZ1 semapv:UnspecifiedMatching +OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:3659 semapv:UnspecifiedMatching +OMIM:604825 FEZ1 skos:exactMatch hgnc.symbol:FEZ1 semapv:UnspecifiedMatching OMIM:604825 FEZ1 skos:exactMatch ncbigene:9638 semapv:UnspecifiedMatching -OMIM:604826 FEZ2 skos:exactMatch hgnc:FEZ2 semapv:UnspecifiedMatching +OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:3660 semapv:UnspecifiedMatching +OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:FEZ2 semapv:UnspecifiedMatching OMIM:604826 FEZ2 skos:exactMatch ncbigene:9637 semapv:UnspecifiedMatching -OMIM:604828 XCL2 skos:exactMatch hgnc:XCL2 semapv:UnspecifiedMatching +OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:10646 semapv:UnspecifiedMatching +OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:XCL2 semapv:UnspecifiedMatching OMIM:604828 XCL2 skos:exactMatch ncbigene:6846 semapv:UnspecifiedMatching -OMIM:604829 DSCR4 skos:exactMatch hgnc:DSCR4 semapv:UnspecifiedMatching +OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:3045 semapv:UnspecifiedMatching +OMIM:604829 DSCR4 skos:exactMatch hgnc.symbol:DSCR4 semapv:UnspecifiedMatching OMIM:604829 DSCR4 skos:exactMatch ncbigene:10281 semapv:UnspecifiedMatching -OMIM:604831 EVC skos:exactMatch hgnc:EVC semapv:UnspecifiedMatching +OMIM:604831 EVC skos:exactMatch hgnc.symbol:3497 semapv:UnspecifiedMatching +OMIM:604831 EVC skos:exactMatch hgnc.symbol:EVC semapv:UnspecifiedMatching OMIM:604831 EVC skos:exactMatch ncbigene:2121 semapv:UnspecifiedMatching -OMIM:604832 CA14 skos:exactMatch hgnc:CA14 semapv:UnspecifiedMatching +OMIM:604832 CA14 skos:exactMatch hgnc.symbol:1372 semapv:UnspecifiedMatching +OMIM:604832 CA14 skos:exactMatch hgnc.symbol:CA14 semapv:UnspecifiedMatching OMIM:604832 CA14 skos:exactMatch ncbigene:23632 semapv:UnspecifiedMatching -OMIM:604833 CCL27 skos:exactMatch hgnc:CCL27 semapv:UnspecifiedMatching +OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:10626 semapv:UnspecifiedMatching +OMIM:604833 CCL27 skos:exactMatch hgnc.symbol:CCL27 semapv:UnspecifiedMatching OMIM:604833 CCL27 skos:exactMatch ncbigene:10850 semapv:UnspecifiedMatching -OMIM:604834 TBK1 skos:exactMatch hgnc:TBK1 semapv:UnspecifiedMatching +OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:11584 semapv:UnspecifiedMatching +OMIM:604834 TBK1 skos:exactMatch hgnc.symbol:TBK1 semapv:UnspecifiedMatching OMIM:604834 TBK1 skos:exactMatch ncbigene:29110 semapv:UnspecifiedMatching -OMIM:604835 DUSP12 skos:exactMatch hgnc:DUSP12 semapv:UnspecifiedMatching +OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:3067 semapv:UnspecifiedMatching +OMIM:604835 DUSP12 skos:exactMatch hgnc.symbol:DUSP12 semapv:UnspecifiedMatching OMIM:604835 DUSP12 skos:exactMatch ncbigene:11266 semapv:UnspecifiedMatching -OMIM:604836 CCR4 skos:exactMatch hgnc:CCR4 semapv:UnspecifiedMatching +OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:1605 semapv:UnspecifiedMatching +OMIM:604836 CCR4 skos:exactMatch hgnc.symbol:CCR4 semapv:UnspecifiedMatching OMIM:604836 CCR4 skos:exactMatch ncbigene:1233 semapv:UnspecifiedMatching -OMIM:604837 PTGDR2 skos:exactMatch hgnc:PTGDR2 semapv:UnspecifiedMatching +OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:4502 semapv:UnspecifiedMatching +OMIM:604837 PTGDR2 skos:exactMatch hgnc.symbol:PTGDR2 semapv:UnspecifiedMatching OMIM:604837 PTGDR2 skos:exactMatch ncbigene:11251 semapv:UnspecifiedMatching -OMIM:604838 GPR45 skos:exactMatch hgnc:GPR45 semapv:UnspecifiedMatching +OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:4503 semapv:UnspecifiedMatching +OMIM:604838 GPR45 skos:exactMatch hgnc.symbol:GPR45 semapv:UnspecifiedMatching OMIM:604838 GPR45 skos:exactMatch ncbigene:11250 semapv:UnspecifiedMatching -OMIM:604839 FKBP6 skos:exactMatch hgnc:FKBP6 semapv:UnspecifiedMatching +OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:3722 semapv:UnspecifiedMatching +OMIM:604839 FKBP6 skos:exactMatch hgnc.symbol:FKBP6 semapv:UnspecifiedMatching OMIM:604839 FKBP6 skos:exactMatch ncbigene:8468 semapv:UnspecifiedMatching -OMIM:604840 FKBP8 skos:exactMatch hgnc:FKBP8 semapv:UnspecifiedMatching +OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:3724 semapv:UnspecifiedMatching +OMIM:604840 FKBP8 skos:exactMatch hgnc.symbol:FKBP8 semapv:UnspecifiedMatching OMIM:604840 FKBP8 skos:exactMatch ncbigene:23770 semapv:UnspecifiedMatching -OMIM:604842 SLC22A3 skos:exactMatch hgnc:SLC22A3 semapv:UnspecifiedMatching +OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:10967 semapv:UnspecifiedMatching +OMIM:604842 SLC22A3 skos:exactMatch hgnc.symbol:SLC22A3 semapv:UnspecifiedMatching OMIM:604842 SLC22A3 skos:exactMatch ncbigene:6581 semapv:UnspecifiedMatching -OMIM:604843 SLCO1B1 skos:exactMatch hgnc:SLCO1B1 semapv:UnspecifiedMatching +OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:10959 semapv:UnspecifiedMatching +OMIM:604843 SLCO1B1 skos:exactMatch hgnc.symbol:SLCO1B1 semapv:UnspecifiedMatching OMIM:604843 SLCO1B1 skos:exactMatch ncbigene:10599 semapv:UnspecifiedMatching -OMIM:604844 HS2ST1 skos:exactMatch hgnc:HS2ST1 semapv:UnspecifiedMatching +OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:5193 semapv:UnspecifiedMatching +OMIM:604844 HS2ST1 skos:exactMatch hgnc.symbol:HS2ST1 semapv:UnspecifiedMatching OMIM:604844 HS2ST1 skos:exactMatch ncbigene:9653 semapv:UnspecifiedMatching -OMIM:604845 PCA3 skos:exactMatch hgnc:PCA3 semapv:UnspecifiedMatching +OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:8637 semapv:UnspecifiedMatching +OMIM:604845 PCA3 skos:exactMatch hgnc.symbol:PCA3 semapv:UnspecifiedMatching OMIM:604845 PCA3 skos:exactMatch ncbigene:50652 semapv:UnspecifiedMatching -OMIM:604846 HS6ST1 skos:exactMatch hgnc:HS6ST1 semapv:UnspecifiedMatching +OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:5201 semapv:UnspecifiedMatching +OMIM:604846 HS6ST1 skos:exactMatch hgnc.symbol:HS6ST1 semapv:UnspecifiedMatching OMIM:604846 HS6ST1 skos:exactMatch ncbigene:9394 semapv:UnspecifiedMatching -OMIM:604847 GPR26 skos:exactMatch hgnc:GPR26 semapv:UnspecifiedMatching +OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:4481 semapv:UnspecifiedMatching +OMIM:604847 GPR26 skos:exactMatch hgnc.symbol:GPR26 semapv:UnspecifiedMatching OMIM:604847 GPR26 skos:exactMatch ncbigene:2849 semapv:UnspecifiedMatching -OMIM:604849 TAAR2 skos:exactMatch hgnc:TAAR2 semapv:UnspecifiedMatching +OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:4514 semapv:UnspecifiedMatching +OMIM:604849 TAAR2 skos:exactMatch hgnc.symbol:TAAR2 semapv:UnspecifiedMatching OMIM:604849 TAAR2 skos:exactMatch ncbigene:9287 semapv:UnspecifiedMatching -OMIM:604850 COPS5 skos:exactMatch hgnc:COPS5 semapv:UnspecifiedMatching +OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:2240 semapv:UnspecifiedMatching +OMIM:604850 COPS5 skos:exactMatch hgnc.symbol:COPS5 semapv:UnspecifiedMatching OMIM:604850 COPS5 skos:exactMatch ncbigene:10987 semapv:UnspecifiedMatching -OMIM:604851 GRSF1 skos:exactMatch hgnc:GRSF1 semapv:UnspecifiedMatching +OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:4610 semapv:UnspecifiedMatching +OMIM:604851 GRSF1 skos:exactMatch hgnc.symbol:GRSF1 semapv:UnspecifiedMatching OMIM:604851 GRSF1 skos:exactMatch ncbigene:2926 semapv:UnspecifiedMatching -OMIM:604852 CXCL11 skos:exactMatch hgnc:CXCL11 semapv:UnspecifiedMatching +OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:10638 semapv:UnspecifiedMatching +OMIM:604852 CXCL11 skos:exactMatch hgnc.symbol:CXCL11 semapv:UnspecifiedMatching OMIM:604852 CXCL11 skos:exactMatch ncbigene:6373 semapv:UnspecifiedMatching -OMIM:604853 MRPL28 skos:exactMatch hgnc:MRPL28 semapv:UnspecifiedMatching +OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:14484 semapv:UnspecifiedMatching +OMIM:604853 MRPL28 skos:exactMatch hgnc.symbol:MRPL28 semapv:UnspecifiedMatching OMIM:604853 MRPL28 skos:exactMatch ncbigene:10573 semapv:UnspecifiedMatching -OMIM:604854 INMT skos:exactMatch hgnc:INMT semapv:UnspecifiedMatching +OMIM:604854 INMT skos:exactMatch hgnc.symbol:6069 semapv:UnspecifiedMatching +OMIM:604854 INMT skos:exactMatch hgnc.symbol:INMT semapv:UnspecifiedMatching OMIM:604854 INMT skos:exactMatch ncbigene:11185 semapv:UnspecifiedMatching OMIM:604857 SRP54 skos:exactMatch UMLS:C1420408 semapv:UnspecifiedMatching OMIM:604857 SRP54 skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching -OMIM:604857 SRP54 skos:exactMatch hgnc:SRP54 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:11301 semapv:UnspecifiedMatching +OMIM:604857 SRP54 skos:exactMatch hgnc.symbol:SRP54 semapv:UnspecifiedMatching OMIM:604857 SRP54 skos:exactMatch ncbigene:6729 semapv:UnspecifiedMatching -OMIM:604858 SRP68 skos:exactMatch hgnc:SRP68 semapv:UnspecifiedMatching +OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:11302 semapv:UnspecifiedMatching +OMIM:604858 SRP68 skos:exactMatch hgnc.symbol:SRP68 semapv:UnspecifiedMatching OMIM:604858 SRP68 skos:exactMatch ncbigene:6730 semapv:UnspecifiedMatching -OMIM:604859 LMCD1 skos:exactMatch hgnc:LMCD1 semapv:UnspecifiedMatching +OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:6633 semapv:UnspecifiedMatching +OMIM:604859 LMCD1 skos:exactMatch hgnc.symbol:LMCD1 semapv:UnspecifiedMatching OMIM:604859 LMCD1 skos:exactMatch ncbigene:29995 semapv:UnspecifiedMatching OMIM:604860 MALT1 skos:exactMatch UMLS:C1416991 semapv:UnspecifiedMatching OMIM:604860 MALT1 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching -OMIM:604860 MALT1 skos:exactMatch hgnc:MALT1 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:6819 semapv:UnspecifiedMatching +OMIM:604860 MALT1 skos:exactMatch hgnc.symbol:MALT1 semapv:UnspecifiedMatching OMIM:604860 MALT1 skos:exactMatch ncbigene:10892 semapv:UnspecifiedMatching OMIM:604861 LATS2 skos:exactMatch UMLS:C1334331 semapv:UnspecifiedMatching -OMIM:604861 LATS2 skos:exactMatch hgnc:LATS2 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:6515 semapv:UnspecifiedMatching +OMIM:604861 LATS2 skos:exactMatch hgnc.symbol:LATS2 semapv:UnspecifiedMatching OMIM:604861 LATS2 skos:exactMatch ncbigene:26524 semapv:UnspecifiedMatching -OMIM:604862 CD207 skos:exactMatch hgnc:CD207 semapv:UnspecifiedMatching +OMIM:604862 CD207 skos:exactMatch hgnc.symbol:17935 semapv:UnspecifiedMatching +OMIM:604862 CD207 skos:exactMatch hgnc.symbol:CD207 semapv:UnspecifiedMatching OMIM:604862 CD207 skos:exactMatch ncbigene:50489 semapv:UnspecifiedMatching -OMIM:604863 LRAT skos:exactMatch hgnc:LRAT semapv:UnspecifiedMatching +OMIM:604863 LRAT skos:exactMatch hgnc.symbol:6685 semapv:UnspecifiedMatching +OMIM:604863 LRAT skos:exactMatch hgnc.symbol:LRAT semapv:UnspecifiedMatching OMIM:604863 LRAT skos:exactMatch ncbigene:9227 semapv:UnspecifiedMatching OMIM:604865 KLF7 skos:exactMatch UMLS:C1416662 semapv:UnspecifiedMatching -OMIM:604865 KLF7 skos:exactMatch hgnc:KLF7 semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:6350 semapv:UnspecifiedMatching +OMIM:604865 KLF7 skos:exactMatch hgnc.symbol:KLF7 semapv:UnspecifiedMatching OMIM:604865 KLF7 skos:exactMatch ncbigene:8609 semapv:UnspecifiedMatching -OMIM:604866 PLAGL2 skos:exactMatch hgnc:PLAGL2 semapv:UnspecifiedMatching +OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:9047 semapv:UnspecifiedMatching +OMIM:604866 PLAGL2 skos:exactMatch hgnc.symbol:PLAGL2 semapv:UnspecifiedMatching OMIM:604866 PLAGL2 skos:exactMatch ncbigene:5326 semapv:UnspecifiedMatching -OMIM:604867 TAS2R16 skos:exactMatch hgnc:TAS2R16 semapv:UnspecifiedMatching +OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:14921 semapv:UnspecifiedMatching +OMIM:604867 TAS2R16 skos:exactMatch hgnc.symbol:TAS2R16 semapv:UnspecifiedMatching OMIM:604867 TAS2R16 skos:exactMatch ncbigene:50833 semapv:UnspecifiedMatching -OMIM:604868 TAS2R3 skos:exactMatch hgnc:TAS2R3 semapv:UnspecifiedMatching +OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:14910 semapv:UnspecifiedMatching +OMIM:604868 TAS2R3 skos:exactMatch hgnc.symbol:TAS2R3 semapv:UnspecifiedMatching OMIM:604868 TAS2R3 skos:exactMatch ncbigene:50831 semapv:UnspecifiedMatching -OMIM:604869 TAS2R4 skos:exactMatch hgnc:TAS2R4 semapv:UnspecifiedMatching +OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:14911 semapv:UnspecifiedMatching +OMIM:604869 TAS2R4 skos:exactMatch hgnc.symbol:TAS2R4 semapv:UnspecifiedMatching OMIM:604869 TAS2R4 skos:exactMatch ncbigene:50832 semapv:UnspecifiedMatching -OMIM:604870 MARCO skos:exactMatch hgnc:MARCO semapv:UnspecifiedMatching +OMIM:604870 MARCO skos:exactMatch hgnc.symbol:6895 semapv:UnspecifiedMatching +OMIM:604870 MARCO skos:exactMatch hgnc.symbol:MARCO semapv:UnspecifiedMatching OMIM:604870 MARCO skos:exactMatch ncbigene:8685 semapv:UnspecifiedMatching -OMIM:604871 MMP24 skos:exactMatch hgnc:MMP24 semapv:UnspecifiedMatching +OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:7172 semapv:UnspecifiedMatching +OMIM:604871 MMP24 skos:exactMatch hgnc.symbol:MMP24 semapv:UnspecifiedMatching OMIM:604871 MMP24 skos:exactMatch ncbigene:10893 semapv:UnspecifiedMatching -OMIM:604872 PCSK7 skos:exactMatch hgnc:PCSK7 semapv:UnspecifiedMatching +OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:8748 semapv:UnspecifiedMatching +OMIM:604872 PCSK7 skos:exactMatch hgnc.symbol:PCSK7 semapv:UnspecifiedMatching OMIM:604872 PCSK7 skos:exactMatch ncbigene:9159 semapv:UnspecifiedMatching -OMIM:604873 MPZL2 skos:exactMatch hgnc:MPZL2 semapv:UnspecifiedMatching +OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:3496 semapv:UnspecifiedMatching +OMIM:604873 MPZL2 skos:exactMatch hgnc.symbol:MPZL2 semapv:UnspecifiedMatching OMIM:604873 MPZL2 skos:exactMatch ncbigene:10205 semapv:UnspecifiedMatching -OMIM:604874 KLRG1 skos:exactMatch hgnc:KLRG1 semapv:UnspecifiedMatching +OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:6380 semapv:UnspecifiedMatching +OMIM:604874 KLRG1 skos:exactMatch hgnc.symbol:KLRG1 semapv:UnspecifiedMatching OMIM:604874 KLRG1 skos:exactMatch ncbigene:10219 semapv:UnspecifiedMatching -OMIM:604875 MYO9A skos:exactMatch hgnc:MYO9A semapv:UnspecifiedMatching +OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:7608 semapv:UnspecifiedMatching +OMIM:604875 MYO9A skos:exactMatch hgnc.symbol:MYO9A semapv:UnspecifiedMatching OMIM:604875 MYO9A skos:exactMatch ncbigene:4649 semapv:UnspecifiedMatching -OMIM:604876 RCAN2 skos:exactMatch hgnc:RCAN2 semapv:UnspecifiedMatching +OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:3041 semapv:UnspecifiedMatching +OMIM:604876 RCAN2 skos:exactMatch hgnc.symbol:RCAN2 semapv:UnspecifiedMatching OMIM:604876 RCAN2 skos:exactMatch ncbigene:10231 semapv:UnspecifiedMatching OMIM:604877 MAFF skos:exactMatch UMLS:C1416967 semapv:UnspecifiedMatching -OMIM:604877 MAFF skos:exactMatch hgnc:MAFF semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch hgnc.symbol:6780 semapv:UnspecifiedMatching +OMIM:604877 MAFF skos:exactMatch hgnc.symbol:MAFF semapv:UnspecifiedMatching OMIM:604877 MAFF skos:exactMatch ncbigene:23764 semapv:UnspecifiedMatching -OMIM:604878 SLC12A6 skos:exactMatch hgnc:SLC12A6 semapv:UnspecifiedMatching +OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:10914 semapv:UnspecifiedMatching +OMIM:604878 SLC12A6 skos:exactMatch hgnc.symbol:SLC12A6 semapv:UnspecifiedMatching OMIM:604878 SLC12A6 skos:exactMatch ncbigene:9990 semapv:UnspecifiedMatching -OMIM:604879 SLC12A7 skos:exactMatch hgnc:SLC12A7 semapv:UnspecifiedMatching +OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:10915 semapv:UnspecifiedMatching +OMIM:604879 SLC12A7 skos:exactMatch hgnc.symbol:SLC12A7 semapv:UnspecifiedMatching OMIM:604879 SLC12A7 skos:exactMatch ncbigene:10723 semapv:UnspecifiedMatching OMIM:604881 RPH3AL skos:exactMatch UMLS:C1419624 semapv:UnspecifiedMatching -OMIM:604881 RPH3AL skos:exactMatch hgnc:RPH3AL semapv:UnspecifiedMatching +OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:10296 semapv:UnspecifiedMatching +OMIM:604881 RPH3AL skos:exactMatch hgnc.symbol:RPH3AL semapv:UnspecifiedMatching OMIM:604881 RPH3AL skos:exactMatch ncbigene:9501 semapv:UnspecifiedMatching -OMIM:604882 NEUROG3 skos:exactMatch hgnc:NEUROG3 semapv:UnspecifiedMatching +OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:13806 semapv:UnspecifiedMatching +OMIM:604882 NEUROG3 skos:exactMatch hgnc.symbol:NEUROG3 semapv:UnspecifiedMatching OMIM:604882 NEUROG3 skos:exactMatch ncbigene:50674 semapv:UnspecifiedMatching -OMIM:604883 GTF3C2 skos:exactMatch hgnc:GTF3C2 semapv:UnspecifiedMatching +OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:4665 semapv:UnspecifiedMatching +OMIM:604883 GTF3C2 skos:exactMatch hgnc.symbol:GTF3C2 semapv:UnspecifiedMatching OMIM:604883 GTF3C2 skos:exactMatch ncbigene:2976 semapv:UnspecifiedMatching -OMIM:604884 NEK6 skos:exactMatch hgnc:NEK6 semapv:UnspecifiedMatching +OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:7749 semapv:UnspecifiedMatching +OMIM:604884 NEK6 skos:exactMatch hgnc.symbol:NEK6 semapv:UnspecifiedMatching OMIM:604884 NEK6 skos:exactMatch ncbigene:10783 semapv:UnspecifiedMatching -OMIM:604885 MYBBP1A skos:exactMatch hgnc:MYBBP1A semapv:UnspecifiedMatching +OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:7546 semapv:UnspecifiedMatching +OMIM:604885 MYBBP1A skos:exactMatch hgnc.symbol:MYBBP1A semapv:UnspecifiedMatching OMIM:604885 MYBBP1A skos:exactMatch ncbigene:10514 semapv:UnspecifiedMatching -OMIM:604886 EMC8 skos:exactMatch hgnc:EMC8 semapv:UnspecifiedMatching +OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:7864 semapv:UnspecifiedMatching +OMIM:604886 EMC8 skos:exactMatch hgnc.symbol:EMC8 semapv:UnspecifiedMatching OMIM:604886 EMC8 skos:exactMatch ncbigene:10328 semapv:UnspecifiedMatching -OMIM:604887 MTHFD2 skos:exactMatch hgnc:MTHFD2 semapv:UnspecifiedMatching +OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:7434 semapv:UnspecifiedMatching +OMIM:604887 MTHFD2 skos:exactMatch hgnc.symbol:MTHFD2 semapv:UnspecifiedMatching OMIM:604887 MTHFD2 skos:exactMatch ncbigene:10797 semapv:UnspecifiedMatching -OMIM:604888 GTF3C3 skos:exactMatch hgnc:GTF3C3 semapv:UnspecifiedMatching +OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:4666 semapv:UnspecifiedMatching +OMIM:604888 GTF3C3 skos:exactMatch hgnc.symbol:GTF3C3 semapv:UnspecifiedMatching OMIM:604888 GTF3C3 skos:exactMatch ncbigene:9330 semapv:UnspecifiedMatching -OMIM:604889 NBEA skos:exactMatch hgnc:NBEA semapv:UnspecifiedMatching +OMIM:604889 NBEA skos:exactMatch hgnc.symbol:7648 semapv:UnspecifiedMatching +OMIM:604889 NBEA skos:exactMatch hgnc.symbol:NBEA semapv:UnspecifiedMatching OMIM:604889 NBEA skos:exactMatch ncbigene:26960 semapv:UnspecifiedMatching -OMIM:604890 GTF3C5 skos:exactMatch hgnc:GTF3C5 semapv:UnspecifiedMatching +OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:4668 semapv:UnspecifiedMatching +OMIM:604890 GTF3C5 skos:exactMatch hgnc.symbol:GTF3C5 semapv:UnspecifiedMatching OMIM:604890 GTF3C5 skos:exactMatch ncbigene:9328 semapv:UnspecifiedMatching -OMIM:604891 NCKAP1 skos:exactMatch hgnc:NCKAP1 semapv:UnspecifiedMatching +OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:7666 semapv:UnspecifiedMatching +OMIM:604891 NCKAP1 skos:exactMatch hgnc.symbol:NCKAP1 semapv:UnspecifiedMatching OMIM:604891 NCKAP1 skos:exactMatch ncbigene:10787 semapv:UnspecifiedMatching -OMIM:604892 GTF3C4 skos:exactMatch hgnc:GTF3C4 semapv:UnspecifiedMatching +OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:4667 semapv:UnspecifiedMatching +OMIM:604892 GTF3C4 skos:exactMatch hgnc.symbol:GTF3C4 semapv:UnspecifiedMatching OMIM:604892 GTF3C4 skos:exactMatch ncbigene:9329 semapv:UnspecifiedMatching -OMIM:604893 AIRN skos:exactMatch hgnc:AIRN semapv:UnspecifiedMatching +OMIM:604893 AIRN skos:exactMatch hgnc.symbol:34515 semapv:UnspecifiedMatching +OMIM:604893 AIRN skos:exactMatch hgnc.symbol:AIRN semapv:UnspecifiedMatching OMIM:604893 AIRN skos:exactMatch ncbigene:100271873 semapv:UnspecifiedMatching -OMIM:604894 ONECUT2 skos:exactMatch hgnc:ONECUT2 semapv:UnspecifiedMatching +OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:8139 semapv:UnspecifiedMatching +OMIM:604894 ONECUT2 skos:exactMatch hgnc.symbol:ONECUT2 semapv:UnspecifiedMatching OMIM:604894 ONECUT2 skos:exactMatch ncbigene:9480 semapv:UnspecifiedMatching OMIM:604895 TBX21 skos:exactMatch UMLS:C1420610 semapv:UnspecifiedMatching OMIM:604895 TBX21 skos:exactMatch UMLS:C1858067 semapv:UnspecifiedMatching OMIM:604895 TBX21 skos:exactMatch UMLS:C1876174 semapv:UnspecifiedMatching -OMIM:604895 TBX21 skos:exactMatch hgnc:TBX21 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:11599 semapv:UnspecifiedMatching +OMIM:604895 TBX21 skos:exactMatch hgnc.symbol:TBX21 semapv:UnspecifiedMatching OMIM:604895 TBX21 skos:exactMatch ncbigene:30009 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C0948368 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C1417174 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C1858054 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch UMLS:C4016908 semapv:UnspecifiedMatching -OMIM:604896 MKKS skos:exactMatch hgnc:MKKS semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch hgnc.symbol:7108 semapv:UnspecifiedMatching +OMIM:604896 MKKS skos:exactMatch hgnc.symbol:MKKS semapv:UnspecifiedMatching OMIM:604896 MKKS skos:exactMatch ncbigene:8195 semapv:UnspecifiedMatching -OMIM:604897 PFDN1 skos:exactMatch hgnc:PFDN1 semapv:UnspecifiedMatching +OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:8866 semapv:UnspecifiedMatching +OMIM:604897 PFDN1 skos:exactMatch hgnc.symbol:PFDN1 semapv:UnspecifiedMatching OMIM:604897 PFDN1 skos:exactMatch ncbigene:5201 semapv:UnspecifiedMatching -OMIM:604898 PFDN4 skos:exactMatch hgnc:PFDN4 semapv:UnspecifiedMatching +OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:8868 semapv:UnspecifiedMatching +OMIM:604898 PFDN4 skos:exactMatch hgnc.symbol:PFDN4 semapv:UnspecifiedMatching OMIM:604898 PFDN4 skos:exactMatch ncbigene:5203 semapv:UnspecifiedMatching -OMIM:604899 PFDN5 skos:exactMatch hgnc:PFDN5 semapv:UnspecifiedMatching +OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:8869 semapv:UnspecifiedMatching +OMIM:604899 PFDN5 skos:exactMatch hgnc.symbol:PFDN5 semapv:UnspecifiedMatching OMIM:604899 PFDN5 skos:exactMatch ncbigene:5204 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch UMLS:C1414024 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch UMLS:C4014516 semapv:UnspecifiedMatching -OMIM:604900 DGAT1 skos:exactMatch hgnc:DGAT1 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:2843 semapv:UnspecifiedMatching +OMIM:604900 DGAT1 skos:exactMatch hgnc.symbol:DGAT1 semapv:UnspecifiedMatching OMIM:604900 DGAT1 skos:exactMatch ncbigene:8694 semapv:UnspecifiedMatching -OMIM:604902 BRF1 skos:exactMatch hgnc:BRF1 semapv:UnspecifiedMatching +OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:11551 semapv:UnspecifiedMatching +OMIM:604902 BRF1 skos:exactMatch hgnc.symbol:BRF1 semapv:UnspecifiedMatching OMIM:604902 BRF1 skos:exactMatch ncbigene:2972 semapv:UnspecifiedMatching -OMIM:604903 TAF1A skos:exactMatch hgnc:TAF1A semapv:UnspecifiedMatching +OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:11532 semapv:UnspecifiedMatching +OMIM:604903 TAF1A skos:exactMatch hgnc.symbol:TAF1A semapv:UnspecifiedMatching OMIM:604903 TAF1A skos:exactMatch ncbigene:9015 semapv:UnspecifiedMatching -OMIM:604904 TAF1B skos:exactMatch hgnc:TAF1B semapv:UnspecifiedMatching +OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:11533 semapv:UnspecifiedMatching +OMIM:604904 TAF1B skos:exactMatch hgnc.symbol:TAF1B semapv:UnspecifiedMatching OMIM:604904 TAF1B skos:exactMatch ncbigene:9014 semapv:UnspecifiedMatching -OMIM:604905 TAF1C skos:exactMatch hgnc:TAF1C semapv:UnspecifiedMatching +OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:11534 semapv:UnspecifiedMatching +OMIM:604905 TAF1C skos:exactMatch hgnc.symbol:TAF1C semapv:UnspecifiedMatching OMIM:604905 TAF1C skos:exactMatch ncbigene:9013 semapv:UnspecifiedMatching -OMIM:604907 TNFRSF13B skos:exactMatch hgnc:TNFRSF13B semapv:UnspecifiedMatching +OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:18153 semapv:UnspecifiedMatching +OMIM:604907 TNFRSF13B skos:exactMatch hgnc.symbol:TNFRSF13B semapv:UnspecifiedMatching OMIM:604907 TNFRSF13B skos:exactMatch ncbigene:23495 semapv:UnspecifiedMatching -OMIM:604908 PPP4R1 skos:exactMatch hgnc:PPP4R1 semapv:UnspecifiedMatching +OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:9320 semapv:UnspecifiedMatching +OMIM:604908 PPP4R1 skos:exactMatch hgnc.symbol:PPP4R1 semapv:UnspecifiedMatching OMIM:604908 PPP4R1 skos:exactMatch ncbigene:9989 semapv:UnspecifiedMatching OMIM:604909 CNOT2 skos:exactMatch UMLS:C1417764 semapv:UnspecifiedMatching OMIM:604909 CNOT2 skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching -OMIM:604909 CNOT2 skos:exactMatch hgnc:CNOT2 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:7878 semapv:UnspecifiedMatching +OMIM:604909 CNOT2 skos:exactMatch hgnc.symbol:CNOT2 semapv:UnspecifiedMatching OMIM:604909 CNOT2 skos:exactMatch ncbigene:4848 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch UMLS:C1417765 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching -OMIM:604910 CNOT3 skos:exactMatch hgnc:CNOT3 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:7879 semapv:UnspecifiedMatching +OMIM:604910 CNOT3 skos:exactMatch hgnc.symbol:CNOT3 semapv:UnspecifiedMatching OMIM:604910 CNOT3 skos:exactMatch ncbigene:4849 semapv:UnspecifiedMatching -OMIM:604911 CNOT4 skos:exactMatch hgnc:CNOT4 semapv:UnspecifiedMatching +OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:7880 semapv:UnspecifiedMatching +OMIM:604911 CNOT4 skos:exactMatch hgnc.symbol:CNOT4 semapv:UnspecifiedMatching OMIM:604911 CNOT4 skos:exactMatch ncbigene:4850 semapv:UnspecifiedMatching -OMIM:604912 TAF2 skos:exactMatch hgnc:TAF2 semapv:UnspecifiedMatching +OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:11536 semapv:UnspecifiedMatching +OMIM:604912 TAF2 skos:exactMatch hgnc.symbol:TAF2 semapv:UnspecifiedMatching OMIM:604912 TAF2 skos:exactMatch ncbigene:6873 semapv:UnspecifiedMatching -OMIM:604913 CNOT7 skos:exactMatch hgnc:CNOT7 semapv:UnspecifiedMatching +OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:14101 semapv:UnspecifiedMatching +OMIM:604913 CNOT7 skos:exactMatch hgnc.symbol:CNOT7 semapv:UnspecifiedMatching OMIM:604913 CNOT7 skos:exactMatch ncbigene:29883 semapv:UnspecifiedMatching -OMIM:604914 JMJD6 skos:exactMatch hgnc:JMJD6 semapv:UnspecifiedMatching +OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:19355 semapv:UnspecifiedMatching +OMIM:604914 JMJD6 skos:exactMatch hgnc.symbol:JMJD6 semapv:UnspecifiedMatching OMIM:604914 JMJD6 skos:exactMatch ncbigene:23210 semapv:UnspecifiedMatching -OMIM:604915 MAP3K13 skos:exactMatch hgnc:MAP3K13 semapv:UnspecifiedMatching +OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:6852 semapv:UnspecifiedMatching +OMIM:604915 MAP3K13 skos:exactMatch hgnc.symbol:MAP3K13 semapv:UnspecifiedMatching OMIM:604915 MAP3K13 skos:exactMatch ncbigene:9175 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch UMLS:C1417763 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching -OMIM:604917 CNOT1 skos:exactMatch hgnc:CNOT1 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:7877 semapv:UnspecifiedMatching +OMIM:604917 CNOT1 skos:exactMatch hgnc.symbol:CNOT1 semapv:UnspecifiedMatching OMIM:604917 CNOT1 skos:exactMatch ncbigene:23019 semapv:UnspecifiedMatching -OMIM:604918 PCLO skos:exactMatch hgnc:PCLO semapv:UnspecifiedMatching +OMIM:604918 PCLO skos:exactMatch hgnc.symbol:13406 semapv:UnspecifiedMatching +OMIM:604918 PCLO skos:exactMatch hgnc.symbol:PCLO semapv:UnspecifiedMatching OMIM:604918 PCLO skos:exactMatch ncbigene:27445 semapv:UnspecifiedMatching -OMIM:604921 MAP4K3 skos:exactMatch hgnc:MAP4K3 semapv:UnspecifiedMatching +OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:6865 semapv:UnspecifiedMatching +OMIM:604921 MAP4K3 skos:exactMatch hgnc.symbol:MAP4K3 semapv:UnspecifiedMatching OMIM:604921 MAP4K3 skos:exactMatch ncbigene:8491 semapv:UnspecifiedMatching -OMIM:604923 MAP4K5 skos:exactMatch hgnc:MAP4K5 semapv:UnspecifiedMatching +OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:6867 semapv:UnspecifiedMatching +OMIM:604923 MAP4K5 skos:exactMatch hgnc.symbol:MAP4K5 semapv:UnspecifiedMatching OMIM:604923 MAP4K5 skos:exactMatch ncbigene:11183 semapv:UnspecifiedMatching -OMIM:604924 PHAX skos:exactMatch hgnc:PHAX semapv:UnspecifiedMatching +OMIM:604924 PHAX skos:exactMatch hgnc.symbol:10241 semapv:UnspecifiedMatching +OMIM:604924 PHAX skos:exactMatch hgnc.symbol:PHAX semapv:UnspecifiedMatching OMIM:604924 PHAX skos:exactMatch ncbigene:51808 semapv:UnspecifiedMatching -OMIM:604925 RABAC1 skos:exactMatch hgnc:RABAC1 semapv:UnspecifiedMatching +OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:9794 semapv:UnspecifiedMatching +OMIM:604925 RABAC1 skos:exactMatch hgnc.symbol:RABAC1 semapv:UnspecifiedMatching OMIM:604925 RABAC1 skos:exactMatch ncbigene:10567 semapv:UnspecifiedMatching -OMIM:604927 CTDP1 skos:exactMatch hgnc:CTDP1 semapv:UnspecifiedMatching +OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:2498 semapv:UnspecifiedMatching +OMIM:604927 CTDP1 skos:exactMatch hgnc.symbol:CTDP1 semapv:UnspecifiedMatching OMIM:604927 CTDP1 skos:exactMatch ncbigene:9150 semapv:UnspecifiedMatching -OMIM:604930 NCK2 skos:exactMatch hgnc:NCK2 semapv:UnspecifiedMatching +OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:7665 semapv:UnspecifiedMatching +OMIM:604930 NCK2 skos:exactMatch hgnc.symbol:NCK2 semapv:UnspecifiedMatching OMIM:604930 NCK2 skos:exactMatch ncbigene:8440 semapv:UnspecifiedMatching -OMIM:604932 PKIG skos:exactMatch hgnc:PKIG semapv:UnspecifiedMatching +OMIM:604932 PKIG skos:exactMatch hgnc.symbol:9019 semapv:UnspecifiedMatching +OMIM:604932 PKIG skos:exactMatch hgnc.symbol:PKIG semapv:UnspecifiedMatching OMIM:604932 PKIG skos:exactMatch ncbigene:11142 semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch UMLS:C1417505 semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch UMLS:C1860985 semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch UMLS:C3272841 semapv:UnspecifiedMatching -OMIM:604933 MUTYH skos:exactMatch hgnc:MUTYH semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:7527 semapv:UnspecifiedMatching +OMIM:604933 MUTYH skos:exactMatch hgnc.symbol:MUTYH semapv:UnspecifiedMatching OMIM:604933 MUTYH skos:exactMatch ncbigene:4595 semapv:UnspecifiedMatching -OMIM:604934 TBCE skos:exactMatch hgnc:TBCE semapv:UnspecifiedMatching +OMIM:604934 TBCE skos:exactMatch hgnc.symbol:11582 semapv:UnspecifiedMatching +OMIM:604934 TBCE skos:exactMatch hgnc.symbol:TBCE semapv:UnspecifiedMatching OMIM:604934 TBCE skos:exactMatch ncbigene:6905 semapv:UnspecifiedMatching -OMIM:604935 DMRT2 skos:exactMatch hgnc:DMRT2 semapv:UnspecifiedMatching +OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:2935 semapv:UnspecifiedMatching +OMIM:604935 DMRT2 skos:exactMatch hgnc.symbol:DMRT2 semapv:UnspecifiedMatching OMIM:604935 DMRT2 skos:exactMatch ncbigene:10655 semapv:UnspecifiedMatching -OMIM:604936 KIR2DL1 skos:exactMatch hgnc:KIR2DL1 semapv:UnspecifiedMatching +OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:6329 semapv:UnspecifiedMatching +OMIM:604936 KIR2DL1 skos:exactMatch hgnc.symbol:KIR2DL1 semapv:UnspecifiedMatching OMIM:604936 KIR2DL1 skos:exactMatch ncbigene:3802 semapv:UnspecifiedMatching -OMIM:604937 KIR2DL2 skos:exactMatch hgnc:KIR2DL2 semapv:UnspecifiedMatching +OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:6330 semapv:UnspecifiedMatching +OMIM:604937 KIR2DL2 skos:exactMatch hgnc.symbol:KIR2DL2 semapv:UnspecifiedMatching OMIM:604937 KIR2DL2 skos:exactMatch ncbigene:3803 semapv:UnspecifiedMatching -OMIM:604938 KIR2DL3 skos:exactMatch hgnc:KIR2DL3 semapv:UnspecifiedMatching +OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:6331 semapv:UnspecifiedMatching +OMIM:604938 KIR2DL3 skos:exactMatch hgnc.symbol:KIR2DL3 semapv:UnspecifiedMatching OMIM:604938 KIR2DL3 skos:exactMatch ncbigene:3804 semapv:UnspecifiedMatching -OMIM:604939 PLA2R1 skos:exactMatch hgnc:PLA2R1 semapv:UnspecifiedMatching +OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:9042 semapv:UnspecifiedMatching +OMIM:604939 PLA2R1 skos:exactMatch hgnc.symbol:PLA2R1 semapv:UnspecifiedMatching OMIM:604939 PLA2R1 skos:exactMatch ncbigene:22925 semapv:UnspecifiedMatching -OMIM:604941 PPP2R2A skos:exactMatch hgnc:PPP2R2A semapv:UnspecifiedMatching +OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:9304 semapv:UnspecifiedMatching +OMIM:604941 PPP2R2A skos:exactMatch hgnc.symbol:PPP2R2A semapv:UnspecifiedMatching OMIM:604941 PPP2R2A skos:exactMatch ncbigene:5520 semapv:UnspecifiedMatching -OMIM:604942 SNPH skos:exactMatch hgnc:SNPH semapv:UnspecifiedMatching +OMIM:604942 SNPH skos:exactMatch hgnc.symbol:15931 semapv:UnspecifiedMatching +OMIM:604942 SNPH skos:exactMatch hgnc.symbol:SNPH semapv:UnspecifiedMatching OMIM:604942 SNPH skos:exactMatch ncbigene:9751 semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch UMLS:C1822756 semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch UMLS:C3151230 semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:604943 SLC26A5 skos:exactMatch hgnc:SLC26A5 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:9359 semapv:UnspecifiedMatching +OMIM:604943 SLC26A5 skos:exactMatch hgnc.symbol:SLC26A5 semapv:UnspecifiedMatching OMIM:604943 SLC26A5 skos:exactMatch ncbigene:375611 semapv:UnspecifiedMatching -OMIM:604944 PPP2R3A skos:exactMatch hgnc:PPP2R3A semapv:UnspecifiedMatching +OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:9307 semapv:UnspecifiedMatching +OMIM:604944 PPP2R3A skos:exactMatch hgnc.symbol:PPP2R3A semapv:UnspecifiedMatching OMIM:604944 PPP2R3A skos:exactMatch ncbigene:5523 semapv:UnspecifiedMatching -OMIM:604945 KIR2DL4 skos:exactMatch hgnc:KIR2DL4 semapv:UnspecifiedMatching +OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:6332 semapv:UnspecifiedMatching +OMIM:604945 KIR2DL4 skos:exactMatch hgnc.symbol:KIR2DL4 semapv:UnspecifiedMatching OMIM:604945 KIR2DL4 skos:exactMatch ncbigene:3805 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416652 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C1416654 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch UMLS:C4016912 semapv:UnspecifiedMatching -OMIM:604946 KIR3DL1 skos:exactMatch hgnc:KIR3DL1 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:6338 semapv:UnspecifiedMatching +OMIM:604946 KIR3DL1 skos:exactMatch hgnc.symbol:KIR3DL1 semapv:UnspecifiedMatching OMIM:604946 KIR3DL1 skos:exactMatch ncbigene:3811 semapv:UnspecifiedMatching -OMIM:604947 KIR3DL2 skos:exactMatch hgnc:KIR3DL2 semapv:UnspecifiedMatching +OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:6339 semapv:UnspecifiedMatching +OMIM:604947 KIR3DL2 skos:exactMatch hgnc.symbol:KIR3DL2 semapv:UnspecifiedMatching OMIM:604947 KIR3DL2 skos:exactMatch ncbigene:3812 semapv:UnspecifiedMatching -OMIM:604948 GADD45B skos:exactMatch hgnc:GADD45B semapv:UnspecifiedMatching +OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:4096 semapv:UnspecifiedMatching +OMIM:604948 GADD45B skos:exactMatch hgnc.symbol:GADD45B semapv:UnspecifiedMatching OMIM:604948 GADD45B skos:exactMatch ncbigene:4616 semapv:UnspecifiedMatching -OMIM:604949 GADD45G skos:exactMatch hgnc:GADD45G semapv:UnspecifiedMatching +OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:4097 semapv:UnspecifiedMatching +OMIM:604949 GADD45G skos:exactMatch hgnc.symbol:GADD45G semapv:UnspecifiedMatching OMIM:604949 GADD45G skos:exactMatch ncbigene:10912 semapv:UnspecifiedMatching -OMIM:604950 PHTF1 skos:exactMatch hgnc:PHTF1 semapv:UnspecifiedMatching +OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:8939 semapv:UnspecifiedMatching +OMIM:604950 PHTF1 skos:exactMatch hgnc.symbol:PHTF1 semapv:UnspecifiedMatching OMIM:604950 PHTF1 skos:exactMatch ncbigene:10745 semapv:UnspecifiedMatching -OMIM:604951 PGLS skos:exactMatch hgnc:PGLS semapv:UnspecifiedMatching +OMIM:604951 PGLS skos:exactMatch hgnc.symbol:8903 semapv:UnspecifiedMatching +OMIM:604951 PGLS skos:exactMatch hgnc.symbol:PGLS semapv:UnspecifiedMatching OMIM:604951 PGLS skos:exactMatch ncbigene:25796 semapv:UnspecifiedMatching -OMIM:604952 KIR2DS1 skos:exactMatch hgnc:KIR2DS1 semapv:UnspecifiedMatching +OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:6333 semapv:UnspecifiedMatching +OMIM:604952 KIR2DS1 skos:exactMatch hgnc.symbol:KIR2DS1 semapv:UnspecifiedMatching OMIM:604952 KIR2DS1 skos:exactMatch ncbigene:3806 semapv:UnspecifiedMatching -OMIM:604953 KIR2DS2 skos:exactMatch hgnc:KIR2DS2 semapv:UnspecifiedMatching +OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:6334 semapv:UnspecifiedMatching +OMIM:604953 KIR2DS2 skos:exactMatch hgnc.symbol:KIR2DS2 semapv:UnspecifiedMatching OMIM:604953 KIR2DS2 skos:exactMatch ncbigene:100132285 semapv:UnspecifiedMatching -OMIM:604954 KIR2DS3 skos:exactMatch hgnc:KIR2DS3 semapv:UnspecifiedMatching +OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:6335 semapv:UnspecifiedMatching +OMIM:604954 KIR2DS3 skos:exactMatch hgnc.symbol:KIR2DS3 semapv:UnspecifiedMatching OMIM:604954 KIR2DS3 skos:exactMatch ncbigene:3808 semapv:UnspecifiedMatching -OMIM:604955 KIR2DS4 skos:exactMatch hgnc:KIR2DS4 semapv:UnspecifiedMatching +OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:6336 semapv:UnspecifiedMatching +OMIM:604955 KIR2DS4 skos:exactMatch hgnc.symbol:KIR2DS4 semapv:UnspecifiedMatching OMIM:604955 KIR2DS4 skos:exactMatch ncbigene:3809 semapv:UnspecifiedMatching -OMIM:604956 KIR2DS5 skos:exactMatch hgnc:KIR2DS5 semapv:UnspecifiedMatching +OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:6337 semapv:UnspecifiedMatching +OMIM:604956 KIR2DS5 skos:exactMatch hgnc.symbol:KIR2DS5 semapv:UnspecifiedMatching OMIM:604956 KIR2DS5 skos:exactMatch ncbigene:3810 semapv:UnspecifiedMatching -OMIM:604958 ACTL6A skos:exactMatch hgnc:ACTL6A semapv:UnspecifiedMatching +OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:24124 semapv:UnspecifiedMatching +OMIM:604958 ACTL6A skos:exactMatch hgnc.symbol:ACTL6A semapv:UnspecifiedMatching OMIM:604958 ACTL6A skos:exactMatch ncbigene:86 semapv:UnspecifiedMatching -OMIM:604959 PMAIP1 skos:exactMatch hgnc:PMAIP1 semapv:UnspecifiedMatching +OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:9108 semapv:UnspecifiedMatching +OMIM:604959 PMAIP1 skos:exactMatch hgnc.symbol:PMAIP1 semapv:UnspecifiedMatching OMIM:604959 PMAIP1 skos:exactMatch ncbigene:5366 semapv:UnspecifiedMatching -OMIM:604960 PACSIN2 skos:exactMatch hgnc:PACSIN2 semapv:UnspecifiedMatching +OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:8571 semapv:UnspecifiedMatching +OMIM:604960 PACSIN2 skos:exactMatch hgnc.symbol:PACSIN2 semapv:UnspecifiedMatching OMIM:604960 PACSIN2 skos:exactMatch ncbigene:11252 semapv:UnspecifiedMatching -OMIM:604961 PDE11A skos:exactMatch hgnc:PDE11A semapv:UnspecifiedMatching +OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:8773 semapv:UnspecifiedMatching +OMIM:604961 PDE11A skos:exactMatch hgnc.symbol:PDE11A semapv:UnspecifiedMatching OMIM:604961 PDE11A skos:exactMatch ncbigene:50940 semapv:UnspecifiedMatching -OMIM:604962 TRAT1 skos:exactMatch hgnc:TRAT1 semapv:UnspecifiedMatching +OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:30698 semapv:UnspecifiedMatching +OMIM:604962 TRAT1 skos:exactMatch hgnc.symbol:TRAT1 semapv:UnspecifiedMatching OMIM:604962 TRAT1 skos:exactMatch ncbigene:50852 semapv:UnspecifiedMatching -OMIM:604963 PGLYRP1 skos:exactMatch hgnc:PGLYRP1 semapv:UnspecifiedMatching +OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:8904 semapv:UnspecifiedMatching +OMIM:604963 PGLYRP1 skos:exactMatch hgnc.symbol:PGLYRP1 semapv:UnspecifiedMatching OMIM:604963 PGLYRP1 skos:exactMatch ncbigene:8993 semapv:UnspecifiedMatching -OMIM:604964 SIT1 skos:exactMatch hgnc:SIT1 semapv:UnspecifiedMatching +OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:17710 semapv:UnspecifiedMatching +OMIM:604964 SIT1 skos:exactMatch hgnc.symbol:SIT1 semapv:UnspecifiedMatching OMIM:604964 SIT1 skos:exactMatch ncbigene:27240 semapv:UnspecifiedMatching -OMIM:604965 STK4 skos:exactMatch hgnc:STK4 semapv:UnspecifiedMatching +OMIM:604965 STK4 skos:exactMatch hgnc.symbol:11408 semapv:UnspecifiedMatching +OMIM:604965 STK4 skos:exactMatch hgnc.symbol:STK4 semapv:UnspecifiedMatching OMIM:604965 STK4 skos:exactMatch ncbigene:6789 semapv:UnspecifiedMatching -OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc:PCDHA@ semapv:UnspecifiedMatching -OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc:PCDHB@ semapv:UnspecifiedMatching -OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc:PCDHG@ semapv:UnspecifiedMatching -OMIM:604969 SKAP1 skos:exactMatch hgnc:SKAP1 semapv:UnspecifiedMatching +OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:8662 semapv:UnspecifiedMatching +OMIM:604966 protocadherin-alpha gene cluster skos:exactMatch hgnc.symbol:PCDHA@ semapv:UnspecifiedMatching +OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:8679 semapv:UnspecifiedMatching +OMIM:604967 protocadherin-beta gene cluster skos:exactMatch hgnc.symbol:PCDHB@ semapv:UnspecifiedMatching +OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:8695 semapv:UnspecifiedMatching +OMIM:604968 protocadherin-gamma gene cluster skos:exactMatch hgnc.symbol:PCDHG@ semapv:UnspecifiedMatching +OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:15605 semapv:UnspecifiedMatching +OMIM:604969 SKAP1 skos:exactMatch hgnc.symbol:SKAP1 semapv:UnspecifiedMatching OMIM:604969 SKAP1 skos:exactMatch ncbigene:8631 semapv:UnspecifiedMatching OMIM:604970 AURKB skos:exactMatch UMLS:C1420464 semapv:UnspecifiedMatching -OMIM:604970 AURKB skos:exactMatch hgnc:AURKB semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch hgnc.symbol:11390 semapv:UnspecifiedMatching +OMIM:604970 AURKB skos:exactMatch hgnc.symbol:AURKB semapv:UnspecifiedMatching OMIM:604970 AURKB skos:exactMatch ncbigene:9212 semapv:UnspecifiedMatching -OMIM:604971 MDFI skos:exactMatch hgnc:MDFI semapv:UnspecifiedMatching +OMIM:604971 MDFI skos:exactMatch hgnc.symbol:6967 semapv:UnspecifiedMatching +OMIM:604971 MDFI skos:exactMatch hgnc.symbol:MDFI semapv:UnspecifiedMatching OMIM:604971 MDFI skos:exactMatch ncbigene:4188 semapv:UnspecifiedMatching -OMIM:604972 ORC3 skos:exactMatch hgnc:ORC3 semapv:UnspecifiedMatching +OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:8489 semapv:UnspecifiedMatching +OMIM:604972 ORC3 skos:exactMatch hgnc.symbol:ORC3 semapv:UnspecifiedMatching OMIM:604972 ORC3 skos:exactMatch ncbigene:23595 semapv:UnspecifiedMatching -OMIM:604973 FCN3 skos:exactMatch hgnc:FCN3 semapv:UnspecifiedMatching +OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:3625 semapv:UnspecifiedMatching +OMIM:604973 FCN3 skos:exactMatch hgnc.symbol:FCN3 semapv:UnspecifiedMatching OMIM:604973 FCN3 skos:exactMatch ncbigene:8547 semapv:UnspecifiedMatching -OMIM:604974 SOX21 skos:exactMatch hgnc:SOX21 semapv:UnspecifiedMatching +OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:11197 semapv:UnspecifiedMatching +OMIM:604974 SOX21 skos:exactMatch hgnc.symbol:SOX21 semapv:UnspecifiedMatching OMIM:604974 SOX21 skos:exactMatch ncbigene:11166 semapv:UnspecifiedMatching -OMIM:604975 SOX5 skos:exactMatch hgnc:SOX5 semapv:UnspecifiedMatching +OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:11201 semapv:UnspecifiedMatching +OMIM:604975 SOX5 skos:exactMatch hgnc.symbol:SOX5 semapv:UnspecifiedMatching OMIM:604975 SOX5 skos:exactMatch ncbigene:6660 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch UMLS:C1418906 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching -OMIM:604976 PRKAG3 skos:exactMatch hgnc:PRKAG3 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:9387 semapv:UnspecifiedMatching +OMIM:604976 PRKAG3 skos:exactMatch hgnc.symbol:PRKAG3 semapv:UnspecifiedMatching OMIM:604976 PRKAG3 skos:exactMatch ncbigene:53632 semapv:UnspecifiedMatching -OMIM:604977 STK19 skos:exactMatch hgnc:STK19 semapv:UnspecifiedMatching +OMIM:604977 STK19 skos:exactMatch hgnc.symbol:11398 semapv:UnspecifiedMatching +OMIM:604977 STK19 skos:exactMatch hgnc.symbol:STK19 semapv:UnspecifiedMatching OMIM:604977 STK19 skos:exactMatch ncbigene:8859 semapv:UnspecifiedMatching -OMIM:604978 NUDT21 skos:exactMatch hgnc:NUDT21 semapv:UnspecifiedMatching +OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:13870 semapv:UnspecifiedMatching +OMIM:604978 NUDT21 skos:exactMatch hgnc.symbol:NUDT21 semapv:UnspecifiedMatching OMIM:604978 NUDT21 skos:exactMatch ncbigene:11051 semapv:UnspecifiedMatching -OMIM:604979 CPSF6 skos:exactMatch hgnc:CPSF6 semapv:UnspecifiedMatching +OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:13871 semapv:UnspecifiedMatching +OMIM:604979 CPSF6 skos:exactMatch hgnc.symbol:CPSF6 semapv:UnspecifiedMatching OMIM:604979 CPSF6 skos:exactMatch ncbigene:11052 semapv:UnspecifiedMatching -OMIM:604980 RACGAP1 skos:exactMatch hgnc:RACGAP1 semapv:UnspecifiedMatching +OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:9804 semapv:UnspecifiedMatching +OMIM:604980 RACGAP1 skos:exactMatch hgnc.symbol:RACGAP1 semapv:UnspecifiedMatching OMIM:604980 RACGAP1 skos:exactMatch ncbigene:29127 semapv:UnspecifiedMatching -OMIM:604981 WBP4 skos:exactMatch hgnc:WBP4 semapv:UnspecifiedMatching +OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:12739 semapv:UnspecifiedMatching +OMIM:604981 WBP4 skos:exactMatch hgnc.symbol:WBP4 semapv:UnspecifiedMatching OMIM:604981 WBP4 skos:exactMatch ncbigene:11193 semapv:UnspecifiedMatching OMIM:604982 HPS1 skos:exactMatch UMLS:C1415707 semapv:UnspecifiedMatching OMIM:604982 HPS1 skos:exactMatch UMLS:C2931875 semapv:UnspecifiedMatching -OMIM:604982 HPS1 skos:exactMatch hgnc:HPS1 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:5163 semapv:UnspecifiedMatching +OMIM:604982 HPS1 skos:exactMatch hgnc.symbol:HPS1 semapv:UnspecifiedMatching OMIM:604982 HPS1 skos:exactMatch ncbigene:3257 semapv:UnspecifiedMatching -OMIM:604983 POLG2 skos:exactMatch hgnc:POLG2 semapv:UnspecifiedMatching +OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:9180 semapv:UnspecifiedMatching +OMIM:604983 POLG2 skos:exactMatch hgnc.symbol:POLG2 semapv:UnspecifiedMatching OMIM:604983 POLG2 skos:exactMatch ncbigene:11232 semapv:UnspecifiedMatching -OMIM:604984 STK24 skos:exactMatch hgnc:STK24 semapv:UnspecifiedMatching +OMIM:604984 STK24 skos:exactMatch hgnc.symbol:11403 semapv:UnspecifiedMatching +OMIM:604984 STK24 skos:exactMatch hgnc.symbol:STK24 semapv:UnspecifiedMatching OMIM:604984 STK24 skos:exactMatch ncbigene:8428 semapv:UnspecifiedMatching -OMIM:604985 SPTBN2 skos:exactMatch hgnc:SPTBN2 semapv:UnspecifiedMatching +OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:11276 semapv:UnspecifiedMatching +OMIM:604985 SPTBN2 skos:exactMatch hgnc.symbol:SPTBN2 semapv:UnspecifiedMatching OMIM:604985 SPTBN2 skos:exactMatch ncbigene:6712 semapv:UnspecifiedMatching -OMIM:604986 BRAP skos:exactMatch hgnc:BRAP semapv:UnspecifiedMatching +OMIM:604986 BRAP skos:exactMatch hgnc.symbol:1099 semapv:UnspecifiedMatching +OMIM:604986 BRAP skos:exactMatch hgnc.symbol:BRAP semapv:UnspecifiedMatching OMIM:604986 BRAP skos:exactMatch ncbigene:8315 semapv:UnspecifiedMatching -OMIM:604987 CLEC5A skos:exactMatch hgnc:CLEC5A semapv:UnspecifiedMatching +OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:2054 semapv:UnspecifiedMatching +OMIM:604987 CLEC5A skos:exactMatch hgnc.symbol:CLEC5A semapv:UnspecifiedMatching OMIM:604987 CLEC5A skos:exactMatch ncbigene:23601 semapv:UnspecifiedMatching -OMIM:604988 SLCO2B1 skos:exactMatch hgnc:SLCO2B1 semapv:UnspecifiedMatching +OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:10962 semapv:UnspecifiedMatching +OMIM:604988 SLCO2B1 skos:exactMatch hgnc.symbol:SLCO2B1 semapv:UnspecifiedMatching OMIM:604988 SLCO2B1 skos:exactMatch ncbigene:11309 semapv:UnspecifiedMatching -OMIM:604989 SPON1 skos:exactMatch hgnc:SPON1 semapv:UnspecifiedMatching +OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:11252 semapv:UnspecifiedMatching +OMIM:604989 SPON1 skos:exactMatch hgnc.symbol:SPON1 semapv:UnspecifiedMatching OMIM:604989 SPON1 skos:exactMatch ncbigene:10418 semapv:UnspecifiedMatching -OMIM:604990 SLC9A3R1 skos:exactMatch hgnc:NHERF1 semapv:UnspecifiedMatching +OMIM:604990 SLC9A3R1 skos:exactMatch hgnc.symbol:NHERF1 semapv:UnspecifiedMatching OMIM:604990 SLC9A3R1 skos:exactMatch ncbigene:9368 semapv:UnspecifiedMatching -OMIM:604991 PART1 skos:exactMatch hgnc:PART1 semapv:UnspecifiedMatching +OMIM:604991 PART1 skos:exactMatch hgnc.symbol:17263 semapv:UnspecifiedMatching +OMIM:604991 PART1 skos:exactMatch hgnc.symbol:PART1 semapv:UnspecifiedMatching OMIM:604991 PART1 skos:exactMatch ncbigene:25859 semapv:UnspecifiedMatching -OMIM:604992 SRL skos:exactMatch hgnc:SRL semapv:UnspecifiedMatching +OMIM:604992 SRL skos:exactMatch hgnc.symbol:11295 semapv:UnspecifiedMatching +OMIM:604992 SRL skos:exactMatch hgnc.symbol:SRL semapv:UnspecifiedMatching OMIM:604992 SRL skos:exactMatch ncbigene:6345 semapv:UnspecifiedMatching -OMIM:604993 PRPF18 skos:exactMatch hgnc:PRPF18 semapv:UnspecifiedMatching +OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:17351 semapv:UnspecifiedMatching +OMIM:604993 PRPF18 skos:exactMatch hgnc.symbol:PRPF18 semapv:UnspecifiedMatching OMIM:604993 PRPF18 skos:exactMatch ncbigene:8559 semapv:UnspecifiedMatching -OMIM:604994 SIX2 skos:exactMatch hgnc:SIX2 semapv:UnspecifiedMatching +OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:10888 semapv:UnspecifiedMatching +OMIM:604994 SIX2 skos:exactMatch hgnc.symbol:SIX2 semapv:UnspecifiedMatching OMIM:604994 SIX2 skos:exactMatch ncbigene:10736 semapv:UnspecifiedMatching -OMIM:604995 SLC22A7 skos:exactMatch hgnc:SLC22A7 semapv:UnspecifiedMatching +OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:10971 semapv:UnspecifiedMatching +OMIM:604995 SLC22A7 skos:exactMatch hgnc.symbol:SLC22A7 semapv:UnspecifiedMatching OMIM:604995 SLC22A7 skos:exactMatch ncbigene:10864 semapv:UnspecifiedMatching -OMIM:604996 FXYD3 skos:exactMatch hgnc:FXYD3 semapv:UnspecifiedMatching +OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:4027 semapv:UnspecifiedMatching +OMIM:604996 FXYD3 skos:exactMatch hgnc.symbol:FXYD3 semapv:UnspecifiedMatching OMIM:604996 FXYD3 skos:exactMatch ncbigene:5349 semapv:UnspecifiedMatching -OMIM:604997 DOK2 skos:exactMatch hgnc:DOK2 semapv:UnspecifiedMatching +OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:2991 semapv:UnspecifiedMatching +OMIM:604997 DOK2 skos:exactMatch hgnc.symbol:DOK2 semapv:UnspecifiedMatching OMIM:604997 DOK2 skos:exactMatch ncbigene:9046 semapv:UnspecifiedMatching -OMIM:604998 CAMK1 skos:exactMatch hgnc:CAMK1 semapv:UnspecifiedMatching +OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:1459 semapv:UnspecifiedMatching +OMIM:604998 CAMK1 skos:exactMatch hgnc.symbol:CAMK1 semapv:UnspecifiedMatching OMIM:604998 CAMK1 skos:exactMatch ncbigene:8536 semapv:UnspecifiedMatching -OMIM:604999 SHANK1 skos:exactMatch hgnc:SHANK1 semapv:UnspecifiedMatching +OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:15474 semapv:UnspecifiedMatching +OMIM:604999 SHANK1 skos:exactMatch hgnc.symbol:SHANK1 semapv:UnspecifiedMatching OMIM:604999 SHANK1 skos:exactMatch ncbigene:50944 semapv:UnspecifiedMatching -OMIM:605000 CORO1A skos:exactMatch hgnc:CORO1A semapv:UnspecifiedMatching +OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:2252 semapv:UnspecifiedMatching +OMIM:605000 CORO1A skos:exactMatch hgnc.symbol:CORO1A semapv:UnspecifiedMatching OMIM:605000 CORO1A skos:exactMatch ncbigene:11151 semapv:UnspecifiedMatching -OMIM:605001 ANGPTL2 skos:exactMatch hgnc:ANGPTL2 semapv:UnspecifiedMatching +OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:490 semapv:UnspecifiedMatching +OMIM:605001 ANGPTL2 skos:exactMatch hgnc.symbol:ANGPTL2 semapv:UnspecifiedMatching OMIM:605001 ANGPTL2 skos:exactMatch ncbigene:23452 semapv:UnspecifiedMatching -OMIM:605002 CORO2B skos:exactMatch hgnc:CORO2B semapv:UnspecifiedMatching +OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:2256 semapv:UnspecifiedMatching +OMIM:605002 CORO2B skos:exactMatch hgnc.symbol:CORO2B semapv:UnspecifiedMatching OMIM:605002 CORO2B skos:exactMatch ncbigene:10391 semapv:UnspecifiedMatching -OMIM:605003 SENP6 skos:exactMatch hgnc:SENP6 semapv:UnspecifiedMatching +OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:20944 semapv:UnspecifiedMatching +OMIM:605003 SENP6 skos:exactMatch hgnc.symbol:SENP6 semapv:UnspecifiedMatching OMIM:605003 SENP6 skos:exactMatch ncbigene:26054 semapv:UnspecifiedMatching -OMIM:605004 GSK3B skos:exactMatch hgnc:GSK3B semapv:UnspecifiedMatching +OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:4617 semapv:UnspecifiedMatching +OMIM:605004 GSK3B skos:exactMatch hgnc.symbol:GSK3B semapv:UnspecifiedMatching OMIM:605004 GSK3B skos:exactMatch ncbigene:2932 semapv:UnspecifiedMatching OMIM:605005 GALNT7 skos:exactMatch UMLS:C1414957 semapv:UnspecifiedMatching -OMIM:605005 GALNT7 skos:exactMatch hgnc:GALNT7 semapv:UnspecifiedMatching +OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:4129 semapv:UnspecifiedMatching +OMIM:605005 GALNT7 skos:exactMatch hgnc.symbol:GALNT7 semapv:UnspecifiedMatching OMIM:605005 GALNT7 skos:exactMatch ncbigene:51809 semapv:UnspecifiedMatching -OMIM:605006 FRAT2 skos:exactMatch hgnc:FRAT2 semapv:UnspecifiedMatching +OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:16048 semapv:UnspecifiedMatching +OMIM:605006 FRAT2 skos:exactMatch hgnc.symbol:FRAT2 semapv:UnspecifiedMatching OMIM:605006 FRAT2 skos:exactMatch ncbigene:23401 semapv:UnspecifiedMatching -OMIM:605007 ADAMTS5 skos:exactMatch hgnc:ADAMTS5 semapv:UnspecifiedMatching +OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:221 semapv:UnspecifiedMatching +OMIM:605007 ADAMTS5 skos:exactMatch hgnc.symbol:ADAMTS5 semapv:UnspecifiedMatching OMIM:605007 ADAMTS5 skos:exactMatch ncbigene:11096 semapv:UnspecifiedMatching -OMIM:605008 ADAMTS6 skos:exactMatch hgnc:ADAMTS6 semapv:UnspecifiedMatching +OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:222 semapv:UnspecifiedMatching +OMIM:605008 ADAMTS6 skos:exactMatch hgnc.symbol:ADAMTS6 semapv:UnspecifiedMatching OMIM:605008 ADAMTS6 skos:exactMatch ncbigene:11174 semapv:UnspecifiedMatching -OMIM:605009 ADAMTS7 skos:exactMatch hgnc:ADAMTS7 semapv:UnspecifiedMatching +OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:223 semapv:UnspecifiedMatching +OMIM:605009 ADAMTS7 skos:exactMatch hgnc.symbol:ADAMTS7 semapv:UnspecifiedMatching OMIM:605009 ADAMTS7 skos:exactMatch ncbigene:11173 semapv:UnspecifiedMatching -OMIM:605010 SPINK5 skos:exactMatch hgnc:SPINK5 semapv:UnspecifiedMatching +OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:15464 semapv:UnspecifiedMatching +OMIM:605010 SPINK5 skos:exactMatch hgnc.symbol:SPINK5 semapv:UnspecifiedMatching OMIM:605010 SPINK5 skos:exactMatch ncbigene:11005 semapv:UnspecifiedMatching OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C1412209 semapv:UnspecifiedMatching OMIM:605011 ADAMTS3 skos:exactMatch UMLS:C4748408 semapv:UnspecifiedMatching -OMIM:605011 ADAMTS3 skos:exactMatch hgnc:ADAMTS3 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:219 semapv:UnspecifiedMatching +OMIM:605011 ADAMTS3 skos:exactMatch hgnc.symbol:ADAMTS3 semapv:UnspecifiedMatching OMIM:605011 ADAMTS3 skos:exactMatch ncbigene:9508 semapv:UnspecifiedMatching OMIM:605012 SUPT16H skos:exactMatch UMLS:C1420522 semapv:UnspecifiedMatching -OMIM:605012 SUPT16H skos:exactMatch hgnc:SUPT16H semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:11465 semapv:UnspecifiedMatching +OMIM:605012 SUPT16H skos:exactMatch hgnc.symbol:SUPT16H semapv:UnspecifiedMatching OMIM:605012 SUPT16H skos:exactMatch ncbigene:11198 semapv:UnspecifiedMatching -OMIM:605014 STX11 skos:exactMatch hgnc:STX11 semapv:UnspecifiedMatching +OMIM:605014 STX11 skos:exactMatch hgnc.symbol:11429 semapv:UnspecifiedMatching +OMIM:605014 STX11 skos:exactMatch hgnc.symbol:STX11 semapv:UnspecifiedMatching OMIM:605014 STX11 skos:exactMatch ncbigene:8676 semapv:UnspecifiedMatching -OMIM:605015 ZNF214 skos:exactMatch hgnc:ZNF214 semapv:UnspecifiedMatching +OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:13006 semapv:UnspecifiedMatching +OMIM:605015 ZNF214 skos:exactMatch hgnc.symbol:ZNF214 semapv:UnspecifiedMatching OMIM:605015 ZNF214 skos:exactMatch ncbigene:7761 semapv:UnspecifiedMatching -OMIM:605016 ZNF215 skos:exactMatch hgnc:ZNF215 semapv:UnspecifiedMatching +OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:13007 semapv:UnspecifiedMatching +OMIM:605016 ZNF215 skos:exactMatch hgnc.symbol:ZNF215 semapv:UnspecifiedMatching OMIM:605016 ZNF215 skos:exactMatch ncbigene:7762 semapv:UnspecifiedMatching -OMIM:605017 VPREB3 skos:exactMatch hgnc:VPREB3 semapv:UnspecifiedMatching +OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:12710 semapv:UnspecifiedMatching +OMIM:605017 VPREB3 skos:exactMatch hgnc.symbol:VPREB3 semapv:UnspecifiedMatching OMIM:605017 VPREB3 skos:exactMatch ncbigene:29802 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C1275122 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C1413850 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C1851526 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C1857941 semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch UMLS:C5436881 semapv:UnspecifiedMatching -OMIM:605018 CYLD skos:exactMatch hgnc:CYLD semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch hgnc.symbol:2584 semapv:UnspecifiedMatching +OMIM:605018 CYLD skos:exactMatch hgnc.symbol:CYLD semapv:UnspecifiedMatching OMIM:605018 CYLD skos:exactMatch ncbigene:1540 semapv:UnspecifiedMatching -OMIM:605020 VSX1 skos:exactMatch hgnc:VSX1 semapv:UnspecifiedMatching +OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:12723 semapv:UnspecifiedMatching +OMIM:605020 VSX1 skos:exactMatch hgnc.symbol:VSX1 semapv:UnspecifiedMatching OMIM:605020 VSX1 skos:exactMatch ncbigene:30813 semapv:UnspecifiedMatching +OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch Orphanet:352582 semapv:UnspecifiedMatching OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching -OMIM:605021 myoclonic epilepsy, familial infantile skos:exactMatch orphanet.ordo:352582 semapv:UnspecifiedMatching -OMIM:605022 PAK2 skos:exactMatch hgnc:PAK2 semapv:UnspecifiedMatching +OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:8591 semapv:UnspecifiedMatching +OMIM:605022 PAK2 skos:exactMatch hgnc.symbol:PAK2 semapv:UnspecifiedMatching OMIM:605022 PAK2 skos:exactMatch ncbigene:5062 semapv:UnspecifiedMatching OMIM:605023 HAO1 skos:exactMatch UMLS:C1415468 semapv:UnspecifiedMatching OMIM:605023 HAO1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605023 HAO1 skos:exactMatch hgnc:HAO1 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:4809 semapv:UnspecifiedMatching +OMIM:605023 HAO1 skos:exactMatch hgnc.symbol:HAO1 semapv:UnspecifiedMatching OMIM:605023 HAO1 skos:exactMatch ncbigene:54363 semapv:UnspecifiedMatching -OMIM:605024 SLC4A8 skos:exactMatch hgnc:SLC4A8 semapv:UnspecifiedMatching +OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:11034 semapv:UnspecifiedMatching +OMIM:605024 SLC4A8 skos:exactMatch hgnc.symbol:SLC4A8 semapv:UnspecifiedMatching OMIM:605024 SLC4A8 skos:exactMatch ncbigene:9498 semapv:UnspecifiedMatching -OMIM:605025 ITGA3 skos:exactMatch hgnc:ITGA3 semapv:UnspecifiedMatching +OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:6139 semapv:UnspecifiedMatching +OMIM:605025 ITGA3 skos:exactMatch hgnc.symbol:ITGA3 semapv:UnspecifiedMatching OMIM:605025 ITGA3 skos:exactMatch ncbigene:3675 semapv:UnspecifiedMatching OMIM:605029 KLRF1 skos:exactMatch UMLS:C1421942 semapv:UnspecifiedMatching -OMIM:605029 KLRF1 skos:exactMatch hgnc:KLRF1 semapv:UnspecifiedMatching +OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:13342 semapv:UnspecifiedMatching +OMIM:605029 KLRF1 skos:exactMatch hgnc.symbol:KLRF1 semapv:UnspecifiedMatching OMIM:605029 KLRF1 skos:exactMatch ncbigene:51348 semapv:UnspecifiedMatching -OMIM:605030 STK3 skos:exactMatch hgnc:STK3 semapv:UnspecifiedMatching +OMIM:605030 STK3 skos:exactMatch hgnc.symbol:11406 semapv:UnspecifiedMatching +OMIM:605030 STK3 skos:exactMatch hgnc.symbol:STK3 semapv:UnspecifiedMatching OMIM:605030 STK3 skos:exactMatch ncbigene:6788 semapv:UnspecifiedMatching -OMIM:605031 PLK4 skos:exactMatch hgnc:PLK4 semapv:UnspecifiedMatching +OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:11397 semapv:UnspecifiedMatching +OMIM:605031 PLK4 skos:exactMatch hgnc.symbol:PLK4 semapv:UnspecifiedMatching OMIM:605031 PLK4 skos:exactMatch ncbigene:10733 semapv:UnspecifiedMatching OMIM:605032 CPLX1 skos:exactMatch UMLS:C1413670 semapv:UnspecifiedMatching OMIM:605032 CPLX1 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching -OMIM:605032 CPLX1 skos:exactMatch hgnc:CPLX1 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:2309 semapv:UnspecifiedMatching +OMIM:605032 CPLX1 skos:exactMatch hgnc.symbol:CPLX1 semapv:UnspecifiedMatching OMIM:605032 CPLX1 skos:exactMatch ncbigene:10815 semapv:UnspecifiedMatching -OMIM:605033 CPLX2 skos:exactMatch hgnc:CPLX2 semapv:UnspecifiedMatching +OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:2310 semapv:UnspecifiedMatching +OMIM:605033 CPLX2 skos:exactMatch hgnc.symbol:CPLX2 semapv:UnspecifiedMatching OMIM:605033 CPLX2 skos:exactMatch ncbigene:10814 semapv:UnspecifiedMatching OMIM:605034 TIMM23 skos:exactMatch UMLS:C1424893 semapv:UnspecifiedMatching -OMIM:605034 TIMM23 skos:exactMatch hgnc:TIMM23 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:17312 semapv:UnspecifiedMatching +OMIM:605034 TIMM23 skos:exactMatch hgnc.symbol:TIMM23 semapv:UnspecifiedMatching OMIM:605034 TIMM23 skos:exactMatch ncbigene:100287932 semapv:UnspecifiedMatching -OMIM:605035 WASF1 skos:exactMatch hgnc:WASF1 semapv:UnspecifiedMatching +OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:12732 semapv:UnspecifiedMatching +OMIM:605035 WASF1 skos:exactMatch hgnc.symbol:WASF1 semapv:UnspecifiedMatching OMIM:605035 WASF1 skos:exactMatch ncbigene:8936 semapv:UnspecifiedMatching -OMIM:605036 ZNF219 skos:exactMatch hgnc:ZNF219 semapv:UnspecifiedMatching +OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:13011 semapv:UnspecifiedMatching +OMIM:605036 ZNF219 skos:exactMatch hgnc.symbol:ZNF219 semapv:UnspecifiedMatching OMIM:605036 ZNF219 skos:exactMatch ncbigene:51222 semapv:UnspecifiedMatching -OMIM:605037 KIF17 skos:exactMatch hgnc:KIF17 semapv:UnspecifiedMatching +OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:19167 semapv:UnspecifiedMatching +OMIM:605037 KIF17 skos:exactMatch hgnc.symbol:KIF17 semapv:UnspecifiedMatching OMIM:605037 KIF17 skos:exactMatch ncbigene:57576 semapv:UnspecifiedMatching -OMIM:605038 PMS2L1 skos:exactMatch hgnc:PMS2P1 semapv:UnspecifiedMatching +OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:9123 semapv:UnspecifiedMatching +OMIM:605038 PMS2L1 skos:exactMatch hgnc.symbol:PMS2P1 semapv:UnspecifiedMatching OMIM:605038 PMS2L1 skos:exactMatch ncbigene:5379 semapv:UnspecifiedMatching +OMIM:605039 bohring-opitz syndrome skos:exactMatch Orphanet:97297 semapv:UnspecifiedMatching OMIM:605039 bohring-opitz syndrome skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching -OMIM:605039 bohring-opitz syndrome skos:exactMatch orphanet.ordo:97297 semapv:UnspecifiedMatching -OMIM:605042 MED23 skos:exactMatch hgnc:MED23 semapv:UnspecifiedMatching +OMIM:605042 MED23 skos:exactMatch hgnc.symbol:2372 semapv:UnspecifiedMatching +OMIM:605042 MED23 skos:exactMatch hgnc.symbol:MED23 semapv:UnspecifiedMatching OMIM:605042 MED23 skos:exactMatch ncbigene:9439 semapv:UnspecifiedMatching -OMIM:605043 MED26 skos:exactMatch hgnc:MED26 semapv:UnspecifiedMatching +OMIM:605043 MED26 skos:exactMatch hgnc.symbol:2376 semapv:UnspecifiedMatching +OMIM:605043 MED26 skos:exactMatch hgnc.symbol:MED26 semapv:UnspecifiedMatching OMIM:605043 MED26 skos:exactMatch ncbigene:9441 semapv:UnspecifiedMatching -OMIM:605044 MED27 skos:exactMatch hgnc:MED27 semapv:UnspecifiedMatching +OMIM:605044 MED27 skos:exactMatch hgnc.symbol:2377 semapv:UnspecifiedMatching +OMIM:605044 MED27 skos:exactMatch hgnc.symbol:MED27 semapv:UnspecifiedMatching OMIM:605044 MED27 skos:exactMatch ncbigene:9442 semapv:UnspecifiedMatching -OMIM:605045 MED7 skos:exactMatch hgnc:MED7 semapv:UnspecifiedMatching +OMIM:605045 MED7 skos:exactMatch hgnc.symbol:2378 semapv:UnspecifiedMatching +OMIM:605045 MED7 skos:exactMatch hgnc.symbol:MED7 semapv:UnspecifiedMatching OMIM:605045 MED7 skos:exactMatch ncbigene:9443 semapv:UnspecifiedMatching -OMIM:605046 UBQLN1 skos:exactMatch hgnc:UBQLN1 semapv:UnspecifiedMatching +OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:12508 semapv:UnspecifiedMatching +OMIM:605046 UBQLN1 skos:exactMatch hgnc.symbol:UBQLN1 semapv:UnspecifiedMatching OMIM:605046 UBQLN1 skos:exactMatch ncbigene:29979 semapv:UnspecifiedMatching -OMIM:605047 IRF7 skos:exactMatch hgnc:IRF7 semapv:UnspecifiedMatching +OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:6122 semapv:UnspecifiedMatching +OMIM:605047 IRF7 skos:exactMatch hgnc.symbol:IRF7 semapv:UnspecifiedMatching OMIM:605047 IRF7 skos:exactMatch ncbigene:3665 semapv:UnspecifiedMatching OMIM:605048 IKBKE skos:exactMatch UMLS:C1422750 semapv:UnspecifiedMatching -OMIM:605048 IKBKE skos:exactMatch hgnc:IKBKE semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:14552 semapv:UnspecifiedMatching +OMIM:605048 IKBKE skos:exactMatch hgnc.symbol:IKBKE semapv:UnspecifiedMatching OMIM:605048 IKBKE skos:exactMatch ncbigene:9641 semapv:UnspecifiedMatching -OMIM:605049 TWSG1 skos:exactMatch hgnc:TWSG1 semapv:UnspecifiedMatching +OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:12429 semapv:UnspecifiedMatching +OMIM:605049 TWSG1 skos:exactMatch hgnc.symbol:TWSG1 semapv:UnspecifiedMatching OMIM:605049 TWSG1 skos:exactMatch ncbigene:57045 semapv:UnspecifiedMatching -OMIM:605051 CNR2 skos:exactMatch hgnc:CNR2 semapv:UnspecifiedMatching +OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:2160 semapv:UnspecifiedMatching +OMIM:605051 CNR2 skos:exactMatch hgnc.symbol:CNR2 semapv:UnspecifiedMatching OMIM:605051 CNR2 skos:exactMatch ncbigene:1269 semapv:UnspecifiedMatching OMIM:605052 TARBP1 skos:exactMatch UMLS:C1420585 semapv:UnspecifiedMatching -OMIM:605052 TARBP1 skos:exactMatch hgnc:TARBP1 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:11568 semapv:UnspecifiedMatching +OMIM:605052 TARBP1 skos:exactMatch hgnc.symbol:TARBP1 semapv:UnspecifiedMatching OMIM:605052 TARBP1 skos:exactMatch ncbigene:6894 semapv:UnspecifiedMatching -OMIM:605053 TARBP2 skos:exactMatch hgnc:TARBP2 semapv:UnspecifiedMatching +OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:11569 semapv:UnspecifiedMatching +OMIM:605053 TARBP2 skos:exactMatch hgnc.symbol:TARBP2 semapv:UnspecifiedMatching OMIM:605053 TARBP2 skos:exactMatch ncbigene:6895 semapv:UnspecifiedMatching -OMIM:605054 SERF2 skos:exactMatch hgnc:SERF2 semapv:UnspecifiedMatching +OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:10757 semapv:UnspecifiedMatching +OMIM:605054 SERF2 skos:exactMatch hgnc.symbol:SERF2 semapv:UnspecifiedMatching OMIM:605054 SERF2 skos:exactMatch ncbigene:10169 semapv:UnspecifiedMatching -OMIM:605056 WASL skos:exactMatch hgnc:WASL semapv:UnspecifiedMatching +OMIM:605056 WASL skos:exactMatch hgnc.symbol:12735 semapv:UnspecifiedMatching +OMIM:605056 WASL skos:exactMatch hgnc.symbol:WASL semapv:UnspecifiedMatching OMIM:605056 WASL skos:exactMatch ncbigene:8976 semapv:UnspecifiedMatching OMIM:605057 TIMM17A skos:exactMatch UMLS:C1424895 semapv:UnspecifiedMatching -OMIM:605057 TIMM17A skos:exactMatch hgnc:TIMM17A semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:17315 semapv:UnspecifiedMatching +OMIM:605057 TIMM17A skos:exactMatch hgnc.symbol:TIMM17A semapv:UnspecifiedMatching OMIM:605057 TIMM17A skos:exactMatch ncbigene:10440 semapv:UnspecifiedMatching OMIM:605058 TIMM44 skos:exactMatch UMLS:C1424896 semapv:UnspecifiedMatching -OMIM:605058 TIMM44 skos:exactMatch hgnc:TIMM44 semapv:UnspecifiedMatching +OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:17316 semapv:UnspecifiedMatching +OMIM:605058 TIMM44 skos:exactMatch hgnc.symbol:TIMM44 semapv:UnspecifiedMatching OMIM:605058 TIMM44 skos:exactMatch ncbigene:10469 semapv:UnspecifiedMatching -OMIM:605060 SHPK skos:exactMatch hgnc:SHPK semapv:UnspecifiedMatching +OMIM:605060 SHPK skos:exactMatch hgnc.symbol:1492 semapv:UnspecifiedMatching +OMIM:605060 SHPK skos:exactMatch hgnc.symbol:SHPK semapv:UnspecifiedMatching OMIM:605060 SHPK skos:exactMatch ncbigene:23729 semapv:UnspecifiedMatching -OMIM:605061 TERF2IP skos:exactMatch hgnc:TERF2IP semapv:UnspecifiedMatching +OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:19246 semapv:UnspecifiedMatching +OMIM:605061 TERF2IP skos:exactMatch hgnc.symbol:TERF2IP semapv:UnspecifiedMatching OMIM:605061 TERF2IP skos:exactMatch ncbigene:54386 semapv:UnspecifiedMatching -OMIM:605062 TAS2R5 skos:exactMatch hgnc:TAS2R5 semapv:UnspecifiedMatching +OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:14912 semapv:UnspecifiedMatching +OMIM:605062 TAS2R5 skos:exactMatch hgnc.symbol:TAS2R5 semapv:UnspecifiedMatching OMIM:605062 TAS2R5 skos:exactMatch ncbigene:54429 semapv:UnspecifiedMatching -OMIM:605063 STIP1 skos:exactMatch hgnc:STIP1 semapv:UnspecifiedMatching +OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:11387 semapv:UnspecifiedMatching +OMIM:605063 STIP1 skos:exactMatch hgnc.symbol:STIP1 semapv:UnspecifiedMatching OMIM:605063 STIP1 skos:exactMatch ncbigene:10963 semapv:UnspecifiedMatching -OMIM:605064 KIF23 skos:exactMatch hgnc:KIF23 semapv:UnspecifiedMatching +OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:6392 semapv:UnspecifiedMatching +OMIM:605064 KIF23 skos:exactMatch hgnc.symbol:KIF23 semapv:UnspecifiedMatching OMIM:605064 KIF23 skos:exactMatch ncbigene:9493 semapv:UnspecifiedMatching -OMIM:605065 CDC37 skos:exactMatch hgnc:CDC37 semapv:UnspecifiedMatching +OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:1735 semapv:UnspecifiedMatching +OMIM:605065 CDC37 skos:exactMatch hgnc.symbol:CDC37 semapv:UnspecifiedMatching OMIM:605065 CDC37 skos:exactMatch ncbigene:11140 semapv:UnspecifiedMatching -OMIM:605066 YWHAE skos:exactMatch hgnc:YWHAE semapv:UnspecifiedMatching +OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:12851 semapv:UnspecifiedMatching +OMIM:605066 YWHAE skos:exactMatch hgnc.symbol:YWHAE semapv:UnspecifiedMatching OMIM:605066 YWHAE skos:exactMatch ncbigene:7531 semapv:UnspecifiedMatching -OMIM:605068 WASF3 skos:exactMatch hgnc:WASF3 semapv:UnspecifiedMatching +OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:12734 semapv:UnspecifiedMatching +OMIM:605068 WASF3 skos:exactMatch hgnc.symbol:WASF3 semapv:UnspecifiedMatching OMIM:605068 WASF3 skos:exactMatch ncbigene:10810 semapv:UnspecifiedMatching -OMIM:605069 MKNK2 skos:exactMatch hgnc:MKNK2 semapv:UnspecifiedMatching +OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:7111 semapv:UnspecifiedMatching +OMIM:605069 MKNK2 skos:exactMatch hgnc.symbol:MKNK2 semapv:UnspecifiedMatching OMIM:605069 MKNK2 skos:exactMatch ncbigene:2872 semapv:UnspecifiedMatching -OMIM:605070 EEA1 skos:exactMatch hgnc:EEA1 semapv:UnspecifiedMatching +OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:3185 semapv:UnspecifiedMatching +OMIM:605070 EEA1 skos:exactMatch hgnc.symbol:EEA1 semapv:UnspecifiedMatching OMIM:605070 EEA1 skos:exactMatch ncbigene:8411 semapv:UnspecifiedMatching -OMIM:605071 RGS19 skos:exactMatch hgnc:RGS19 semapv:UnspecifiedMatching +OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:13735 semapv:UnspecifiedMatching +OMIM:605071 RGS19 skos:exactMatch hgnc.symbol:RGS19 semapv:UnspecifiedMatching OMIM:605071 RGS19 skos:exactMatch ncbigene:10287 semapv:UnspecifiedMatching OMIM:605072 GIPC1 skos:exactMatch UMLS:C1825351 semapv:UnspecifiedMatching OMIM:605072 GIPC1 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching -OMIM:605072 GIPC1 skos:exactMatch hgnc:GIPC1 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:1226 semapv:UnspecifiedMatching +OMIM:605072 GIPC1 skos:exactMatch hgnc.symbol:GIPC1 semapv:UnspecifiedMatching OMIM:605072 GIPC1 skos:exactMatch ncbigene:10755 semapv:UnspecifiedMatching -OMIM:605073 TRIM37 skos:exactMatch hgnc:TRIM37 semapv:UnspecifiedMatching +OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:7523 semapv:UnspecifiedMatching +OMIM:605073 TRIM37 skos:exactMatch hgnc.symbol:TRIM37 semapv:UnspecifiedMatching OMIM:605073 TRIM37 skos:exactMatch ncbigene:4591 semapv:UnspecifiedMatching -OMIM:605076 SNAPC2 skos:exactMatch hgnc:SNAPC2 semapv:UnspecifiedMatching +OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:11135 semapv:UnspecifiedMatching +OMIM:605076 SNAPC2 skos:exactMatch hgnc.symbol:SNAPC2 semapv:UnspecifiedMatching OMIM:605076 SNAPC2 skos:exactMatch ncbigene:6618 semapv:UnspecifiedMatching -OMIM:605077 DNMAP1 skos:exactMatch hgnc:DMAP1 semapv:UnspecifiedMatching +OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:18291 semapv:UnspecifiedMatching +OMIM:605077 DNMAP1 skos:exactMatch hgnc.symbol:DMAP1 semapv:UnspecifiedMatching OMIM:605077 DNMAP1 skos:exactMatch ncbigene:55929 semapv:UnspecifiedMatching -OMIM:605078 TARDBP skos:exactMatch hgnc:TARDBP semapv:UnspecifiedMatching +OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:11571 semapv:UnspecifiedMatching +OMIM:605078 TARDBP skos:exactMatch hgnc.symbol:TARDBP semapv:UnspecifiedMatching OMIM:605078 TARDBP skos:exactMatch ncbigene:23435 semapv:UnspecifiedMatching -OMIM:605079 SALL3 skos:exactMatch hgnc:SALL3 semapv:UnspecifiedMatching +OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:10527 semapv:UnspecifiedMatching +OMIM:605079 SALL3 skos:exactMatch hgnc.symbol:SALL3 semapv:UnspecifiedMatching OMIM:605079 SALL3 skos:exactMatch ncbigene:27164 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch UMLS:C1413548 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch UMLS:C1849792 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605080 CNGB3 skos:exactMatch hgnc:CNGB3 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:2153 semapv:UnspecifiedMatching +OMIM:605080 CNGB3 skos:exactMatch hgnc.symbol:CNGB3 semapv:UnspecifiedMatching OMIM:605080 CNGB3 skos:exactMatch ncbigene:54714 semapv:UnspecifiedMatching -OMIM:605081 CYTH3 skos:exactMatch hgnc:CYTH3 semapv:UnspecifiedMatching +OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:9504 semapv:UnspecifiedMatching +OMIM:605081 CYTH3 skos:exactMatch hgnc.symbol:CYTH3 semapv:UnspecifiedMatching OMIM:605081 CYTH3 skos:exactMatch ncbigene:9265 semapv:UnspecifiedMatching -OMIM:605082 RASSF1 skos:exactMatch hgnc:RASSF1 semapv:UnspecifiedMatching +OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:9882 semapv:UnspecifiedMatching +OMIM:605082 RASSF1 skos:exactMatch hgnc.symbol:RASSF1 semapv:UnspecifiedMatching OMIM:605082 RASSF1 skos:exactMatch ncbigene:11186 semapv:UnspecifiedMatching -OMIM:605083 FRZB skos:exactMatch hgnc:FRZB semapv:UnspecifiedMatching +OMIM:605083 FRZB skos:exactMatch hgnc.symbol:3959 semapv:UnspecifiedMatching +OMIM:605083 FRZB skos:exactMatch hgnc.symbol:FRZB semapv:UnspecifiedMatching OMIM:605083 FRZB skos:exactMatch ncbigene:2487 semapv:UnspecifiedMatching OMIM:605084 MICU1 skos:exactMatch UMLS:C1413147 semapv:UnspecifiedMatching OMIM:605084 MICU1 skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching -OMIM:605084 MICU1 skos:exactMatch hgnc:MICU1 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:1530 semapv:UnspecifiedMatching +OMIM:605084 MICU1 skos:exactMatch hgnc.symbol:MICU1 semapv:UnspecifiedMatching OMIM:605084 MICU1 skos:exactMatch ncbigene:10367 semapv:UnspecifiedMatching -OMIM:605085 TREM1 skos:exactMatch hgnc:TREM1 semapv:UnspecifiedMatching +OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:17760 semapv:UnspecifiedMatching +OMIM:605085 TREM1 skos:exactMatch hgnc.symbol:TREM1 semapv:UnspecifiedMatching OMIM:605085 TREM1 skos:exactMatch ncbigene:54210 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch UMLS:C1425067 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching -OMIM:605086 TREM2 skos:exactMatch hgnc:TREM2 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:17761 semapv:UnspecifiedMatching +OMIM:605086 TREM2 skos:exactMatch hgnc.symbol:TREM2 semapv:UnspecifiedMatching OMIM:605086 TREM2 skos:exactMatch ncbigene:54209 semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch UMLS:C1418566 semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch UMLS:C5394575 semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch UMLS:C5394576 semapv:UnspecifiedMatching -OMIM:605087 PIGK skos:exactMatch hgnc:PIGK semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch hgnc.symbol:8965 semapv:UnspecifiedMatching +OMIM:605087 PIGK skos:exactMatch hgnc.symbol:PIGK semapv:UnspecifiedMatching OMIM:605087 PIGK skos:exactMatch ncbigene:10026 semapv:UnspecifiedMatching -OMIM:605088 MVP skos:exactMatch hgnc:MVP semapv:UnspecifiedMatching +OMIM:605088 MVP skos:exactMatch hgnc.symbol:7531 semapv:UnspecifiedMatching +OMIM:605088 MVP skos:exactMatch hgnc.symbol:MVP semapv:UnspecifiedMatching OMIM:605088 MVP skos:exactMatch ncbigene:9961 semapv:UnspecifiedMatching -OMIM:605089 MRPL40 skos:exactMatch hgnc:MRPL40 semapv:UnspecifiedMatching +OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:14491 semapv:UnspecifiedMatching +OMIM:605089 MRPL40 skos:exactMatch hgnc.symbol:MRPL40 semapv:UnspecifiedMatching OMIM:605089 MRPL40 skos:exactMatch ncbigene:64976 semapv:UnspecifiedMatching -OMIM:605090 RARRES1 skos:exactMatch hgnc:RARRES1 semapv:UnspecifiedMatching +OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:9867 semapv:UnspecifiedMatching +OMIM:605090 RARRES1 skos:exactMatch hgnc.symbol:RARRES1 semapv:UnspecifiedMatching OMIM:605090 RARRES1 skos:exactMatch ncbigene:5918 semapv:UnspecifiedMatching -OMIM:605091 FGD2 skos:exactMatch hgnc:FGD2 semapv:UnspecifiedMatching +OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:3664 semapv:UnspecifiedMatching +OMIM:605091 FGD2 skos:exactMatch hgnc.symbol:FGD2 semapv:UnspecifiedMatching OMIM:605091 FGD2 skos:exactMatch ncbigene:221472 semapv:UnspecifiedMatching -OMIM:605092 PLAAT4 skos:exactMatch hgnc:PLAAT4 semapv:UnspecifiedMatching +OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:9869 semapv:UnspecifiedMatching +OMIM:605092 PLAAT4 skos:exactMatch hgnc.symbol:PLAAT4 semapv:UnspecifiedMatching OMIM:605092 PLAAT4 skos:exactMatch ncbigene:5920 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C1822705 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C2675103 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C3276960 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch UMLS:C3805370 semapv:UnspecifiedMatching -OMIM:605093 SH2B3 skos:exactMatch hgnc:SH2B3 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:29605 semapv:UnspecifiedMatching +OMIM:605093 SH2B3 skos:exactMatch hgnc.symbol:SH2B3 semapv:UnspecifiedMatching OMIM:605093 SH2B3 skos:exactMatch ncbigene:10019 semapv:UnspecifiedMatching -OMIM:605094 STEAP2 skos:exactMatch hgnc:STEAP2 semapv:UnspecifiedMatching +OMIM:605094 STEAP2 skos:exactMatch hgnc.symbol:17885 semapv:UnspecifiedMatching +OMIM:605094 STEAP2 skos:exactMatch hgnc.symbol:STEAP2 semapv:UnspecifiedMatching OMIM:605094 STEAP2 skos:exactMatch ncbigene:261729 semapv:UnspecifiedMatching -OMIM:605096 ANO7 skos:exactMatch hgnc:ANO7 semapv:UnspecifiedMatching +OMIM:605096 ANO7 skos:exactMatch hgnc.symbol:31677 semapv:UnspecifiedMatching +OMIM:605096 ANO7 skos:exactMatch hgnc.symbol:ANO7 semapv:UnspecifiedMatching OMIM:605096 ANO7 skos:exactMatch ncbigene:50636 semapv:UnspecifiedMatching OMIM:605097 SLC45A3 skos:exactMatch UMLS:C1822765 semapv:UnspecifiedMatching -OMIM:605097 SLC45A3 skos:exactMatch hgnc:SLC45A3 semapv:UnspecifiedMatching +OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:8642 semapv:UnspecifiedMatching +OMIM:605097 SLC45A3 skos:exactMatch hgnc.symbol:SLC45A3 semapv:UnspecifiedMatching OMIM:605097 SLC45A3 skos:exactMatch ncbigene:85414 semapv:UnspecifiedMatching -OMIM:605100 PPM1D skos:exactMatch hgnc:PPM1D semapv:UnspecifiedMatching +OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:9277 semapv:UnspecifiedMatching +OMIM:605100 PPM1D skos:exactMatch hgnc.symbol:PPM1D semapv:UnspecifiedMatching OMIM:605100 PPM1D skos:exactMatch ncbigene:8493 semapv:UnspecifiedMatching -OMIM:605101 TAB2 skos:exactMatch hgnc:TAB2 semapv:UnspecifiedMatching +OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:17075 semapv:UnspecifiedMatching +OMIM:605101 TAB2 skos:exactMatch hgnc.symbol:TAB2 semapv:UnspecifiedMatching OMIM:605101 TAB2 skos:exactMatch ncbigene:23118 semapv:UnspecifiedMatching -OMIM:605102 MASP2 skos:exactMatch hgnc:MASP2 semapv:UnspecifiedMatching +OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:6902 semapv:UnspecifiedMatching +OMIM:605102 MASP2 skos:exactMatch hgnc.symbol:MASP2 semapv:UnspecifiedMatching OMIM:605102 MASP2 skos:exactMatch ncbigene:10747 semapv:UnspecifiedMatching -OMIM:605103 NMU skos:exactMatch hgnc:NMU semapv:UnspecifiedMatching +OMIM:605103 NMU skos:exactMatch hgnc.symbol:7859 semapv:UnspecifiedMatching +OMIM:605103 NMU skos:exactMatch hgnc.symbol:NMU semapv:UnspecifiedMatching OMIM:605103 NMU skos:exactMatch ncbigene:10874 semapv:UnspecifiedMatching -OMIM:605104 RBFOX1 skos:exactMatch hgnc:RBFOX1 semapv:UnspecifiedMatching +OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:18222 semapv:UnspecifiedMatching +OMIM:605104 RBFOX1 skos:exactMatch hgnc.symbol:RBFOX1 semapv:UnspecifiedMatching OMIM:605104 RBFOX1 skos:exactMatch ncbigene:54715 semapv:UnspecifiedMatching -OMIM:605106 LPAR3 skos:exactMatch hgnc:LPAR3 semapv:UnspecifiedMatching +OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:14298 semapv:UnspecifiedMatching +OMIM:605106 LPAR3 skos:exactMatch hgnc.symbol:LPAR3 semapv:UnspecifiedMatching OMIM:605106 LPAR3 skos:exactMatch ncbigene:23566 semapv:UnspecifiedMatching -OMIM:605107 EDF1 skos:exactMatch hgnc:EDF1 semapv:UnspecifiedMatching +OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:3164 semapv:UnspecifiedMatching +OMIM:605107 EDF1 skos:exactMatch hgnc.symbol:EDF1 semapv:UnspecifiedMatching OMIM:605107 EDF1 skos:exactMatch ncbigene:8721 semapv:UnspecifiedMatching -OMIM:605108 NMUR2 skos:exactMatch hgnc:NMUR2 semapv:UnspecifiedMatching +OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:16454 semapv:UnspecifiedMatching +OMIM:605108 NMUR2 skos:exactMatch hgnc.symbol:NMUR2 semapv:UnspecifiedMatching OMIM:605108 NMUR2 skos:exactMatch ncbigene:56923 semapv:UnspecifiedMatching -OMIM:605109 HERC1 skos:exactMatch hgnc:HERC1 semapv:UnspecifiedMatching +OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:4867 semapv:UnspecifiedMatching +OMIM:605109 HERC1 skos:exactMatch hgnc.symbol:HERC1 semapv:UnspecifiedMatching OMIM:605109 HERC1 skos:exactMatch ncbigene:8925 semapv:UnspecifiedMatching -OMIM:605110 LPAR2 skos:exactMatch hgnc:LPAR2 semapv:UnspecifiedMatching +OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:3168 semapv:UnspecifiedMatching +OMIM:605110 LPAR2 skos:exactMatch hgnc.symbol:LPAR2 semapv:UnspecifiedMatching OMIM:605110 LPAR2 skos:exactMatch ncbigene:9170 semapv:UnspecifiedMatching -OMIM:605111 S1PR2 skos:exactMatch hgnc:S1PR2 semapv:UnspecifiedMatching +OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:3169 semapv:UnspecifiedMatching +OMIM:605111 S1PR2 skos:exactMatch hgnc.symbol:S1PR2 semapv:UnspecifiedMatching OMIM:605111 S1PR2 skos:exactMatch ncbigene:9294 semapv:UnspecifiedMatching -OMIM:605112 TMOD3 skos:exactMatch hgnc:TMOD3 semapv:UnspecifiedMatching +OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:11873 semapv:UnspecifiedMatching +OMIM:605112 TMOD3 skos:exactMatch hgnc.symbol:TMOD3 semapv:UnspecifiedMatching OMIM:605112 TMOD3 skos:exactMatch ncbigene:29766 semapv:UnspecifiedMatching OMIM:605113 AASS skos:exactMatch UMLS:C0543533 semapv:UnspecifiedMatching OMIM:605113 AASS skos:exactMatch UMLS:C1424938 semapv:UnspecifiedMatching -OMIM:605113 AASS skos:exactMatch hgnc:AASS semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch hgnc.symbol:17366 semapv:UnspecifiedMatching +OMIM:605113 AASS skos:exactMatch hgnc.symbol:AASS semapv:UnspecifiedMatching OMIM:605113 AASS skos:exactMatch ncbigene:10157 semapv:UnspecifiedMatching OMIM:605114 SPO11 skos:exactMatch UMLS:C1335860 semapv:UnspecifiedMatching -OMIM:605114 SPO11 skos:exactMatch hgnc:SPO11 semapv:UnspecifiedMatching +OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:11250 semapv:UnspecifiedMatching +OMIM:605114 SPO11 skos:exactMatch hgnc.symbol:SPO11 semapv:UnspecifiedMatching OMIM:605114 SPO11 skos:exactMatch ncbigene:23626 semapv:UnspecifiedMatching -OMIM:605116 CHRNA9 skos:exactMatch hgnc:CHRNA9 semapv:UnspecifiedMatching +OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:14079 semapv:UnspecifiedMatching +OMIM:605116 CHRNA9 skos:exactMatch hgnc.symbol:CHRNA9 semapv:UnspecifiedMatching OMIM:605116 CHRNA9 skos:exactMatch ncbigene:55584 semapv:UnspecifiedMatching -OMIM:605117 SOCS2 skos:exactMatch hgnc:SOCS2 semapv:UnspecifiedMatching +OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:19382 semapv:UnspecifiedMatching +OMIM:605117 SOCS2 skos:exactMatch hgnc.symbol:SOCS2 semapv:UnspecifiedMatching OMIM:605117 SOCS2 skos:exactMatch ncbigene:8835 semapv:UnspecifiedMatching -OMIM:605118 SOCS6 skos:exactMatch hgnc:SOCS6 semapv:UnspecifiedMatching +OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:16833 semapv:UnspecifiedMatching +OMIM:605118 SOCS6 skos:exactMatch hgnc.symbol:SOCS6 semapv:UnspecifiedMatching OMIM:605118 SOCS6 skos:exactMatch ncbigene:9306 semapv:UnspecifiedMatching -OMIM:605119 PPM1G skos:exactMatch hgnc:PPM1G semapv:UnspecifiedMatching +OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:9278 semapv:UnspecifiedMatching +OMIM:605119 PPM1G skos:exactMatch hgnc.symbol:PPM1G semapv:UnspecifiedMatching OMIM:605119 PPM1G skos:exactMatch ncbigene:5496 semapv:UnspecifiedMatching -OMIM:605120 GDF2 skos:exactMatch hgnc:GDF2 semapv:UnspecifiedMatching +OMIM:605120 GDF2 skos:exactMatch hgnc.symbol:4217 semapv:UnspecifiedMatching +OMIM:605120 GDF2 skos:exactMatch hgnc.symbol:GDF2 semapv:UnspecifiedMatching OMIM:605120 GDF2 skos:exactMatch ncbigene:2658 semapv:UnspecifiedMatching -OMIM:605121 RRN3 skos:exactMatch hgnc:RRN3 semapv:UnspecifiedMatching +OMIM:605121 RRN3 skos:exactMatch hgnc.symbol:30346 semapv:UnspecifiedMatching +OMIM:605121 RRN3 skos:exactMatch hgnc.symbol:RRN3 semapv:UnspecifiedMatching OMIM:605121 RRN3 skos:exactMatch ncbigene:54700 semapv:UnspecifiedMatching -OMIM:605122 SUPV3L1 skos:exactMatch hgnc:SUPV3L1 semapv:UnspecifiedMatching +OMIM:605122 SUPV3L1 skos:exactMatch hgnc.symbol:11471 semapv:UnspecifiedMatching +OMIM:605122 SUPV3L1 skos:exactMatch hgnc.symbol:SUPV3L1 semapv:UnspecifiedMatching OMIM:605122 SUPV3L1 skos:exactMatch ncbigene:6832 semapv:UnspecifiedMatching -OMIM:605123 SPINT1 skos:exactMatch hgnc:SPINT1 semapv:UnspecifiedMatching +OMIM:605123 SPINT1 skos:exactMatch hgnc.symbol:11246 semapv:UnspecifiedMatching +OMIM:605123 SPINT1 skos:exactMatch hgnc.symbol:SPINT1 semapv:UnspecifiedMatching OMIM:605123 SPINT1 skos:exactMatch ncbigene:6692 semapv:UnspecifiedMatching -OMIM:605124 SPINT2 skos:exactMatch hgnc:SPINT2 semapv:UnspecifiedMatching +OMIM:605124 SPINT2 skos:exactMatch hgnc.symbol:11247 semapv:UnspecifiedMatching +OMIM:605124 SPINT2 skos:exactMatch hgnc.symbol:SPINT2 semapv:UnspecifiedMatching OMIM:605124 SPINT2 skos:exactMatch ncbigene:10653 semapv:UnspecifiedMatching -OMIM:605125 GABARAP skos:exactMatch hgnc:GABARAP semapv:UnspecifiedMatching +OMIM:605125 GABARAP skos:exactMatch hgnc.symbol:4067 semapv:UnspecifiedMatching +OMIM:605125 GABARAP skos:exactMatch hgnc.symbol:GABARAP semapv:UnspecifiedMatching OMIM:605125 GABARAP skos:exactMatch ncbigene:11337 semapv:UnspecifiedMatching -OMIM:605126 FHL5 skos:exactMatch hgnc:FHL5 semapv:UnspecifiedMatching +OMIM:605126 FHL5 skos:exactMatch hgnc.symbol:17371 semapv:UnspecifiedMatching +OMIM:605126 FHL5 skos:exactMatch hgnc.symbol:FHL5 semapv:UnspecifiedMatching OMIM:605126 FHL5 skos:exactMatch ncbigene:9457 semapv:UnspecifiedMatching -OMIM:605127 OPTC skos:exactMatch hgnc:OPTC semapv:UnspecifiedMatching +OMIM:605127 OPTC skos:exactMatch hgnc.symbol:8158 semapv:UnspecifiedMatching +OMIM:605127 OPTC skos:exactMatch hgnc.symbol:OPTC semapv:UnspecifiedMatching OMIM:605127 OPTC skos:exactMatch ncbigene:26254 semapv:UnspecifiedMatching -OMIM:605128 GUCA1C skos:exactMatch hgnc:GUCA1C semapv:UnspecifiedMatching +OMIM:605128 GUCA1C skos:exactMatch hgnc.symbol:4680 semapv:UnspecifiedMatching +OMIM:605128 GUCA1C skos:exactMatch hgnc.symbol:GUCA1C semapv:UnspecifiedMatching OMIM:605128 GUCA1C skos:exactMatch ncbigene:9626 semapv:UnspecifiedMatching -OMIM:605129 PSME3 skos:exactMatch hgnc:PSME3 semapv:UnspecifiedMatching +OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:9570 semapv:UnspecifiedMatching +OMIM:605129 PSME3 skos:exactMatch hgnc.symbol:PSME3 semapv:UnspecifiedMatching OMIM:605129 PSME3 skos:exactMatch ncbigene:10197 semapv:UnspecifiedMatching +OMIM:605130 wiedemann-steiner syndrome skos:exactMatch Orphanet:319182 semapv:UnspecifiedMatching OMIM:605130 wiedemann-steiner syndrome skos:exactMatch UMLS:C1854630 semapv:UnspecifiedMatching -OMIM:605130 wiedemann-steiner syndrome skos:exactMatch orphanet.ordo:319182 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C1414724 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C1421525 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch UMLS:C4016881 semapv:UnspecifiedMatching -OMIM:605131 WWOX skos:exactMatch hgnc:WWOX semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch hgnc.symbol:12799 semapv:UnspecifiedMatching +OMIM:605131 WWOX skos:exactMatch hgnc.symbol:WWOX semapv:UnspecifiedMatching OMIM:605131 WWOX skos:exactMatch ncbigene:51741 semapv:UnspecifiedMatching OMIM:605132 TLE4 skos:exactMatch UMLS:C1420755 semapv:UnspecifiedMatching -OMIM:605132 TLE4 skos:exactMatch hgnc:TLE4 semapv:UnspecifiedMatching +OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:11840 semapv:UnspecifiedMatching +OMIM:605132 TLE4 skos:exactMatch hgnc.symbol:TLE4 semapv:UnspecifiedMatching OMIM:605132 TLE4 skos:exactMatch ncbigene:7091 semapv:UnspecifiedMatching -OMIM:605133 NCBP2 skos:exactMatch hgnc:NCBP2 semapv:UnspecifiedMatching +OMIM:605133 NCBP2 skos:exactMatch hgnc.symbol:7659 semapv:UnspecifiedMatching +OMIM:605133 NCBP2 skos:exactMatch hgnc.symbol:NCBP2 semapv:UnspecifiedMatching OMIM:605133 NCBP2 skos:exactMatch ncbigene:22916 semapv:UnspecifiedMatching -OMIM:605134 PITPNC1 skos:exactMatch hgnc:PITPNC1 semapv:UnspecifiedMatching +OMIM:605134 PITPNC1 skos:exactMatch hgnc.symbol:21045 semapv:UnspecifiedMatching +OMIM:605134 PITPNC1 skos:exactMatch hgnc.symbol:PITPNC1 semapv:UnspecifiedMatching OMIM:605134 PITPNC1 skos:exactMatch ncbigene:26207 semapv:UnspecifiedMatching -OMIM:605138 OAZ3 skos:exactMatch hgnc:OAZ3 semapv:UnspecifiedMatching +OMIM:605138 OAZ3 skos:exactMatch hgnc.symbol:8097 semapv:UnspecifiedMatching +OMIM:605138 OAZ3 skos:exactMatch hgnc.symbol:OAZ3 semapv:UnspecifiedMatching OMIM:605138 OAZ3 skos:exactMatch ncbigene:51686 semapv:UnspecifiedMatching -OMIM:605139 CCT2 skos:exactMatch hgnc:CCT2 semapv:UnspecifiedMatching +OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:1615 semapv:UnspecifiedMatching +OMIM:605139 CCT2 skos:exactMatch hgnc.symbol:CCT2 semapv:UnspecifiedMatching OMIM:605139 CCT2 skos:exactMatch ncbigene:10576 semapv:UnspecifiedMatching -OMIM:605140 CCT7 skos:exactMatch hgnc:CCT7 semapv:UnspecifiedMatching +OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:1622 semapv:UnspecifiedMatching +OMIM:605140 CCT7 skos:exactMatch hgnc.symbol:CCT7 semapv:UnspecifiedMatching OMIM:605140 CCT7 skos:exactMatch ncbigene:10574 semapv:UnspecifiedMatching -OMIM:605141 VPREB1 skos:exactMatch hgnc:VPREB1 semapv:UnspecifiedMatching +OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:12709 semapv:UnspecifiedMatching +OMIM:605141 VPREB1 skos:exactMatch hgnc.symbol:VPREB1 semapv:UnspecifiedMatching OMIM:605141 VPREB1 skos:exactMatch ncbigene:7441 semapv:UnspecifiedMatching -OMIM:605142 CCT4 skos:exactMatch hgnc:CCT4 semapv:UnspecifiedMatching +OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:1617 semapv:UnspecifiedMatching +OMIM:605142 CCT4 skos:exactMatch hgnc.symbol:CCT4 semapv:UnspecifiedMatching OMIM:605142 CCT4 skos:exactMatch ncbigene:10575 semapv:UnspecifiedMatching -OMIM:605143 ACTR1A skos:exactMatch hgnc:ACTR1A semapv:UnspecifiedMatching +OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:167 semapv:UnspecifiedMatching +OMIM:605143 ACTR1A skos:exactMatch hgnc.symbol:ACTR1A semapv:UnspecifiedMatching OMIM:605143 ACTR1A skos:exactMatch ncbigene:10121 semapv:UnspecifiedMatching -OMIM:605144 ACTR1B skos:exactMatch hgnc:ACTR1B semapv:UnspecifiedMatching +OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:168 semapv:UnspecifiedMatching +OMIM:605144 ACTR1B skos:exactMatch hgnc.symbol:ACTR1B semapv:UnspecifiedMatching OMIM:605144 ACTR1B skos:exactMatch ncbigene:10120 semapv:UnspecifiedMatching -OMIM:605145 ANKH skos:exactMatch hgnc:ANKH semapv:UnspecifiedMatching +OMIM:605145 ANKH skos:exactMatch hgnc.symbol:15492 semapv:UnspecifiedMatching +OMIM:605145 ANKH skos:exactMatch hgnc.symbol:ANKH semapv:UnspecifiedMatching OMIM:605145 ANKH skos:exactMatch ncbigene:56172 semapv:UnspecifiedMatching -OMIM:605146 S1PR5 skos:exactMatch hgnc:S1PR5 semapv:UnspecifiedMatching +OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:14299 semapv:UnspecifiedMatching +OMIM:605146 S1PR5 skos:exactMatch hgnc.symbol:S1PR5 semapv:UnspecifiedMatching OMIM:605146 S1PR5 skos:exactMatch ncbigene:53637 semapv:UnspecifiedMatching -OMIM:605147 LECT1 skos:exactMatch hgnc:CNMD semapv:UnspecifiedMatching +OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:17005 semapv:UnspecifiedMatching +OMIM:605147 LECT1 skos:exactMatch hgnc.symbol:CNMD semapv:UnspecifiedMatching OMIM:605147 LECT1 skos:exactMatch ncbigene:11061 semapv:UnspecifiedMatching -OMIM:605148 GALNT6 skos:exactMatch hgnc:GALNT6 semapv:UnspecifiedMatching +OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:4128 semapv:UnspecifiedMatching +OMIM:605148 GALNT6 skos:exactMatch hgnc.symbol:GALNT6 semapv:UnspecifiedMatching OMIM:605148 GALNT6 skos:exactMatch ncbigene:11226 semapv:UnspecifiedMatching OMIM:605149 CXCL13 skos:exactMatch UMLS:C1366572 semapv:UnspecifiedMatching -OMIM:605149 CXCL13 skos:exactMatch hgnc:CXCL13 semapv:UnspecifiedMatching +OMIM:605149 CXCL13 skos:exactMatch hgnc.symbol:10639 semapv:UnspecifiedMatching +OMIM:605149 CXCL13 skos:exactMatch hgnc.symbol:CXCL13 semapv:UnspecifiedMatching OMIM:605149 CXCL13 skos:exactMatch ncbigene:10563 semapv:UnspecifiedMatching -OMIM:605152 CFAP45 skos:exactMatch hgnc:CFAP45 semapv:UnspecifiedMatching +OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:17229 semapv:UnspecifiedMatching +OMIM:605152 CFAP45 skos:exactMatch hgnc.symbol:CFAP45 semapv:UnspecifiedMatching OMIM:605152 CFAP45 skos:exactMatch ncbigene:25790 semapv:UnspecifiedMatching -OMIM:605153 RAMP1 skos:exactMatch hgnc:RAMP1 semapv:UnspecifiedMatching +OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:9843 semapv:UnspecifiedMatching +OMIM:605153 RAMP1 skos:exactMatch hgnc.symbol:RAMP1 semapv:UnspecifiedMatching OMIM:605153 RAMP1 skos:exactMatch ncbigene:10267 semapv:UnspecifiedMatching -OMIM:605154 RAMP2 skos:exactMatch hgnc:RAMP2 semapv:UnspecifiedMatching +OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:9844 semapv:UnspecifiedMatching +OMIM:605154 RAMP2 skos:exactMatch hgnc.symbol:RAMP2 semapv:UnspecifiedMatching OMIM:605154 RAMP2 skos:exactMatch ncbigene:10266 semapv:UnspecifiedMatching -OMIM:605155 RAMP3 skos:exactMatch hgnc:RAMP3 semapv:UnspecifiedMatching +OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:9845 semapv:UnspecifiedMatching +OMIM:605155 RAMP3 skos:exactMatch hgnc.symbol:RAMP3 semapv:UnspecifiedMatching OMIM:605155 RAMP3 skos:exactMatch ncbigene:10268 semapv:UnspecifiedMatching OMIM:605157 p53-responsive gene 1 skos:exactMatch ncbigene:23574 semapv:UnspecifiedMatching -OMIM:605158 PXDN skos:exactMatch hgnc:PXDN semapv:UnspecifiedMatching +OMIM:605158 PXDN skos:exactMatch hgnc.symbol:14966 semapv:UnspecifiedMatching +OMIM:605158 PXDN skos:exactMatch hgnc.symbol:PXDN semapv:UnspecifiedMatching OMIM:605158 PXDN skos:exactMatch ncbigene:7837 semapv:UnspecifiedMatching OMIM:605159 AIFM2 skos:exactMatch UMLS:C1826619 semapv:UnspecifiedMatching -OMIM:605159 AIFM2 skos:exactMatch hgnc:AIFM2 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:21411 semapv:UnspecifiedMatching +OMIM:605159 AIFM2 skos:exactMatch hgnc.symbol:AIFM2 semapv:UnspecifiedMatching OMIM:605159 AIFM2 skos:exactMatch ncbigene:84883 semapv:UnspecifiedMatching OMIM:605160 p53-responsive gene 4 skos:exactMatch ncbigene:284124 semapv:UnspecifiedMatching -OMIM:605161 WFDC5 skos:exactMatch hgnc:WFDC5 semapv:UnspecifiedMatching +OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:20477 semapv:UnspecifiedMatching +OMIM:605161 WFDC5 skos:exactMatch hgnc.symbol:WFDC5 semapv:UnspecifiedMatching OMIM:605161 WFDC5 skos:exactMatch ncbigene:149708 semapv:UnspecifiedMatching -OMIM:605162 GADD45GIP1 skos:exactMatch hgnc:GADD45GIP1 semapv:UnspecifiedMatching +OMIM:605162 GADD45GIP1 skos:exactMatch hgnc.symbol:29996 semapv:UnspecifiedMatching +OMIM:605162 GADD45GIP1 skos:exactMatch hgnc.symbol:GADD45GIP1 semapv:UnspecifiedMatching OMIM:605162 GADD45GIP1 skos:exactMatch ncbigene:90480 semapv:UnspecifiedMatching -OMIM:605163 CXCR6 skos:exactMatch hgnc:CXCR6 semapv:UnspecifiedMatching +OMIM:605163 CXCR6 skos:exactMatch hgnc.symbol:16647 semapv:UnspecifiedMatching +OMIM:605163 CXCR6 skos:exactMatch hgnc.symbol:CXCR6 semapv:UnspecifiedMatching OMIM:605163 CXCR6 skos:exactMatch ncbigene:10663 semapv:UnspecifiedMatching -OMIM:605164 HDAC2 skos:exactMatch hgnc:HDAC2 semapv:UnspecifiedMatching +OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:4853 semapv:UnspecifiedMatching +OMIM:605164 HDAC2 skos:exactMatch hgnc.symbol:HDAC2 semapv:UnspecifiedMatching OMIM:605164 HDAC2 skos:exactMatch ncbigene:3066 semapv:UnspecifiedMatching -OMIM:605165 ZNF278 skos:exactMatch hgnc:PATZ1 semapv:UnspecifiedMatching +OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:13071 semapv:UnspecifiedMatching +OMIM:605165 ZNF278 skos:exactMatch hgnc.symbol:PATZ1 semapv:UnspecifiedMatching OMIM:605165 ZNF278 skos:exactMatch ncbigene:23598 semapv:UnspecifiedMatching OMIM:605166 HDAC3 skos:exactMatch UMLS:C1366355 semapv:UnspecifiedMatching -OMIM:605166 HDAC3 skos:exactMatch hgnc:HDAC3 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:4854 semapv:UnspecifiedMatching +OMIM:605166 HDAC3 skos:exactMatch hgnc.symbol:HDAC3 semapv:UnspecifiedMatching OMIM:605166 HDAC3 skos:exactMatch ncbigene:8841 semapv:UnspecifiedMatching -OMIM:605167 BAGE skos:exactMatch hgnc:BAGE semapv:UnspecifiedMatching +OMIM:605167 BAGE skos:exactMatch hgnc.symbol:942 semapv:UnspecifiedMatching +OMIM:605167 BAGE skos:exactMatch hgnc.symbol:BAGE semapv:UnspecifiedMatching OMIM:605167 BAGE skos:exactMatch ncbigene:574 semapv:UnspecifiedMatching -OMIM:605168 FABP5 skos:exactMatch hgnc:FABP5 semapv:UnspecifiedMatching +OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:3560 semapv:UnspecifiedMatching +OMIM:605168 FABP5 skos:exactMatch hgnc.symbol:FABP5 semapv:UnspecifiedMatching OMIM:605168 FABP5 skos:exactMatch ncbigene:2171 semapv:UnspecifiedMatching -OMIM:605169 ELF5 skos:exactMatch hgnc:ELF5 semapv:UnspecifiedMatching +OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:3320 semapv:UnspecifiedMatching +OMIM:605169 ELF5 skos:exactMatch hgnc.symbol:ELF5 semapv:UnspecifiedMatching OMIM:605169 ELF5 skos:exactMatch ncbigene:2001 semapv:UnspecifiedMatching -OMIM:605170 EI24 skos:exactMatch hgnc:EI24 semapv:UnspecifiedMatching +OMIM:605170 EI24 skos:exactMatch hgnc.symbol:13276 semapv:UnspecifiedMatching +OMIM:605170 EI24 skos:exactMatch hgnc.symbol:EI24 semapv:UnspecifiedMatching OMIM:605170 EI24 skos:exactMatch ncbigene:9538 semapv:UnspecifiedMatching -OMIM:605171 TP53I3 skos:exactMatch hgnc:TP53I3 semapv:UnspecifiedMatching +OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:19373 semapv:UnspecifiedMatching +OMIM:605171 TP53I3 skos:exactMatch hgnc.symbol:TP53I3 semapv:UnspecifiedMatching OMIM:605171 TP53I3 skos:exactMatch ncbigene:9540 semapv:UnspecifiedMatching -OMIM:605172 PTGES skos:exactMatch hgnc:PTGES semapv:UnspecifiedMatching +OMIM:605172 PTGES skos:exactMatch hgnc.symbol:9599 semapv:UnspecifiedMatching +OMIM:605172 PTGES skos:exactMatch hgnc.symbol:PTGES semapv:UnspecifiedMatching OMIM:605172 PTGES skos:exactMatch ncbigene:9536 semapv:UnspecifiedMatching -OMIM:605173 ENC1 skos:exactMatch hgnc:ENC1 semapv:UnspecifiedMatching +OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:3345 semapv:UnspecifiedMatching +OMIM:605173 ENC1 skos:exactMatch hgnc.symbol:ENC1 semapv:UnspecifiedMatching OMIM:605173 ENC1 skos:exactMatch ncbigene:8507 semapv:UnspecifiedMatching -OMIM:605174 ADAMTS1 skos:exactMatch hgnc:ADAMTS1 semapv:UnspecifiedMatching +OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:217 semapv:UnspecifiedMatching +OMIM:605174 ADAMTS1 skos:exactMatch hgnc.symbol:ADAMTS1 semapv:UnspecifiedMatching OMIM:605174 ADAMTS1 skos:exactMatch ncbigene:9510 semapv:UnspecifiedMatching -OMIM:605175 ADAMTS8 skos:exactMatch hgnc:ADAMTS8 semapv:UnspecifiedMatching +OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:224 semapv:UnspecifiedMatching +OMIM:605175 ADAMTS8 skos:exactMatch hgnc.symbol:ADAMTS8 semapv:UnspecifiedMatching OMIM:605175 ADAMTS8 skos:exactMatch ncbigene:11095 semapv:UnspecifiedMatching -OMIM:605176 HAO2 skos:exactMatch hgnc:HAO2 semapv:UnspecifiedMatching +OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:4810 semapv:UnspecifiedMatching +OMIM:605176 HAO2 skos:exactMatch hgnc.symbol:HAO2 semapv:UnspecifiedMatching OMIM:605176 HAO2 skos:exactMatch ncbigene:51179 semapv:UnspecifiedMatching OMIM:605178 GAS8 skos:exactMatch UMLS:C1333661 semapv:UnspecifiedMatching OMIM:605178 GAS8 skos:exactMatch UMLS:C4225230 semapv:UnspecifiedMatching -OMIM:605178 GAS8 skos:exactMatch hgnc:GAS8 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch hgnc.symbol:4166 semapv:UnspecifiedMatching +OMIM:605178 GAS8 skos:exactMatch hgnc.symbol:GAS8 semapv:UnspecifiedMatching OMIM:605178 GAS8 skos:exactMatch ncbigene:2622 semapv:UnspecifiedMatching -OMIM:605179 GAS8AS1 skos:exactMatch hgnc:GAS8-AS1 semapv:UnspecifiedMatching +OMIM:605179 GAS8AS1 skos:exactMatch hgnc.symbol:1197 semapv:UnspecifiedMatching +OMIM:605179 GAS8AS1 skos:exactMatch hgnc.symbol:GAS8-AS1 semapv:UnspecifiedMatching OMIM:605179 GAS8AS1 skos:exactMatch ncbigene:750 semapv:UnspecifiedMatching -OMIM:605180 SLC38A2 skos:exactMatch hgnc:SLC38A2 semapv:UnspecifiedMatching +OMIM:605180 SLC38A2 skos:exactMatch hgnc.symbol:13448 semapv:UnspecifiedMatching +OMIM:605180 SLC38A2 skos:exactMatch hgnc.symbol:SLC38A2 semapv:UnspecifiedMatching OMIM:605180 SLC38A2 skos:exactMatch ncbigene:54407 semapv:UnspecifiedMatching -OMIM:605181 TM7SF3 skos:exactMatch hgnc:TM7SF3 semapv:UnspecifiedMatching +OMIM:605181 TM7SF3 skos:exactMatch hgnc.symbol:23049 semapv:UnspecifiedMatching +OMIM:605181 TM7SF3 skos:exactMatch hgnc.symbol:TM7SF3 semapv:UnspecifiedMatching OMIM:605181 TM7SF3 skos:exactMatch ncbigene:51768 semapv:UnspecifiedMatching -OMIM:605182 RASA3 skos:exactMatch hgnc:RASA3 semapv:UnspecifiedMatching +OMIM:605182 RASA3 skos:exactMatch hgnc.symbol:20331 semapv:UnspecifiedMatching +OMIM:605182 RASA3 skos:exactMatch hgnc.symbol:RASA3 semapv:UnspecifiedMatching OMIM:605182 RASA3 skos:exactMatch ncbigene:22821 semapv:UnspecifiedMatching -OMIM:605183 CALML5 skos:exactMatch hgnc:CALML5 semapv:UnspecifiedMatching +OMIM:605183 CALML5 skos:exactMatch hgnc.symbol:18180 semapv:UnspecifiedMatching +OMIM:605183 CALML5 skos:exactMatch hgnc.symbol:CALML5 semapv:UnspecifiedMatching OMIM:605183 CALML5 skos:exactMatch ncbigene:51806 semapv:UnspecifiedMatching -OMIM:605184 PAIP1 skos:exactMatch hgnc:PAIP1 semapv:UnspecifiedMatching +OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:16945 semapv:UnspecifiedMatching +OMIM:605184 PAIP1 skos:exactMatch hgnc.symbol:PAIP1 semapv:UnspecifiedMatching OMIM:605184 PAIP1 skos:exactMatch ncbigene:10605 semapv:UnspecifiedMatching OMIM:605185 DLL4 skos:exactMatch UMLS:C1414072 semapv:UnspecifiedMatching OMIM:605185 DLL4 skos:exactMatch UMLS:C4225271 semapv:UnspecifiedMatching -OMIM:605185 DLL4 skos:exactMatch hgnc:DLL4 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:2910 semapv:UnspecifiedMatching +OMIM:605185 DLL4 skos:exactMatch hgnc.symbol:DLL4 semapv:UnspecifiedMatching OMIM:605185 DLL4 skos:exactMatch ncbigene:54567 semapv:UnspecifiedMatching -OMIM:605186 WIF1 skos:exactMatch hgnc:WIF1 semapv:UnspecifiedMatching +OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:18081 semapv:UnspecifiedMatching +OMIM:605186 WIF1 skos:exactMatch hgnc.symbol:WIF1 semapv:UnspecifiedMatching OMIM:605186 WIF1 skos:exactMatch ncbigene:11197 semapv:UnspecifiedMatching -OMIM:605187 GPR27 skos:exactMatch hgnc:GPR27 semapv:UnspecifiedMatching +OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:4482 semapv:UnspecifiedMatching +OMIM:605187 GPR27 skos:exactMatch hgnc.symbol:GPR27 semapv:UnspecifiedMatching OMIM:605187 GPR27 skos:exactMatch ncbigene:2850 semapv:UnspecifiedMatching -OMIM:605188 GPR85 skos:exactMatch hgnc:GPR85 semapv:UnspecifiedMatching +OMIM:605188 GPR85 skos:exactMatch hgnc.symbol:4536 semapv:UnspecifiedMatching +OMIM:605188 GPR85 skos:exactMatch hgnc.symbol:GPR85 semapv:UnspecifiedMatching OMIM:605188 GPR85 skos:exactMatch ncbigene:54329 semapv:UnspecifiedMatching OMIM:605189 DKK1 skos:exactMatch UMLS:C1414057 semapv:UnspecifiedMatching -OMIM:605189 DKK1 skos:exactMatch hgnc:DKK1 semapv:UnspecifiedMatching +OMIM:605189 DKK1 skos:exactMatch hgnc.symbol:2891 semapv:UnspecifiedMatching +OMIM:605189 DKK1 skos:exactMatch hgnc.symbol:DKK1 semapv:UnspecifiedMatching OMIM:605189 DKK1 skos:exactMatch ncbigene:22943 semapv:UnspecifiedMatching -OMIM:605190 TRAM1 skos:exactMatch hgnc:TRAM1 semapv:UnspecifiedMatching +OMIM:605190 TRAM1 skos:exactMatch hgnc.symbol:20568 semapv:UnspecifiedMatching +OMIM:605190 TRAM1 skos:exactMatch hgnc.symbol:TRAM1 semapv:UnspecifiedMatching OMIM:605190 TRAM1 skos:exactMatch ncbigene:23471 semapv:UnspecifiedMatching -OMIM:605191 BTAF1 skos:exactMatch hgnc:BTAF1 semapv:UnspecifiedMatching +OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:17307 semapv:UnspecifiedMatching +OMIM:605191 BTAF1 skos:exactMatch hgnc.symbol:BTAF1 semapv:UnspecifiedMatching OMIM:605191 BTAF1 skos:exactMatch ncbigene:9044 semapv:UnspecifiedMatching -OMIM:605193 DIRAS3 skos:exactMatch hgnc:DIRAS3 semapv:UnspecifiedMatching +OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:687 semapv:UnspecifiedMatching +OMIM:605193 DIRAS3 skos:exactMatch hgnc.symbol:DIRAS3 semapv:UnspecifiedMatching OMIM:605193 DIRAS3 skos:exactMatch ncbigene:9077 semapv:UnspecifiedMatching -OMIM:605194 CFC1 skos:exactMatch hgnc:CFC1 semapv:UnspecifiedMatching +OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:18292 semapv:UnspecifiedMatching +OMIM:605194 CFC1 skos:exactMatch hgnc.symbol:CFC1 semapv:UnspecifiedMatching OMIM:605194 CFC1 skos:exactMatch ncbigene:55997 semapv:UnspecifiedMatching OMIM:605195 MESP2 skos:exactMatch UMLS:C1825969 semapv:UnspecifiedMatching OMIM:605195 MESP2 skos:exactMatch UMLS:C1837549 semapv:UnspecifiedMatching -OMIM:605195 MESP2 skos:exactMatch hgnc:MESP2 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:29659 semapv:UnspecifiedMatching +OMIM:605195 MESP2 skos:exactMatch hgnc.symbol:MESP2 semapv:UnspecifiedMatching OMIM:605195 MESP2 skos:exactMatch ncbigene:145873 semapv:UnspecifiedMatching -OMIM:605196 COQ3 skos:exactMatch hgnc:COQ3 semapv:UnspecifiedMatching +OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:18175 semapv:UnspecifiedMatching +OMIM:605196 COQ3 skos:exactMatch hgnc.symbol:COQ3 semapv:UnspecifiedMatching OMIM:605196 COQ3 skos:exactMatch ncbigene:51805 semapv:UnspecifiedMatching -OMIM:605197 KYNU skos:exactMatch hgnc:KYNU semapv:UnspecifiedMatching +OMIM:605197 KYNU skos:exactMatch hgnc.symbol:6469 semapv:UnspecifiedMatching +OMIM:605197 KYNU skos:exactMatch hgnc.symbol:KYNU semapv:UnspecifiedMatching OMIM:605197 KYNU skos:exactMatch ncbigene:8942 semapv:UnspecifiedMatching -OMIM:605198 TENT4A skos:exactMatch hgnc:TENT4A semapv:UnspecifiedMatching +OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:16705 semapv:UnspecifiedMatching +OMIM:605198 TENT4A skos:exactMatch hgnc.symbol:TENT4A semapv:UnspecifiedMatching OMIM:605198 TENT4A skos:exactMatch ncbigene:11044 semapv:UnspecifiedMatching -OMIM:605199 SFPQ skos:exactMatch hgnc:SFPQ semapv:UnspecifiedMatching +OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:10774 semapv:UnspecifiedMatching +OMIM:605199 SFPQ skos:exactMatch hgnc.symbol:SFPQ semapv:UnspecifiedMatching OMIM:605199 SFPQ skos:exactMatch ncbigene:6421 semapv:UnspecifiedMatching -OMIM:605200 HERC3 skos:exactMatch hgnc:HERC3 semapv:UnspecifiedMatching +OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:4876 semapv:UnspecifiedMatching +OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:HERC3 semapv:UnspecifiedMatching OMIM:605200 HERC3 skos:exactMatch ncbigene:8916 semapv:UnspecifiedMatching -OMIM:605202 NANS skos:exactMatch hgnc:NANS semapv:UnspecifiedMatching +OMIM:605202 NANS skos:exactMatch hgnc.symbol:19237 semapv:UnspecifiedMatching +OMIM:605202 NANS skos:exactMatch hgnc.symbol:NANS semapv:UnspecifiedMatching OMIM:605202 NANS skos:exactMatch ncbigene:54187 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C1540039 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C1851945 semapv:UnspecifiedMatching @@ -19183,166 +26407,234 @@ OMIM:605204 TOR1A skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C4016919 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C4016920 semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching -OMIM:605204 TOR1A skos:exactMatch hgnc:TOR1A semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:3098 semapv:UnspecifiedMatching +OMIM:605204 TOR1A skos:exactMatch hgnc.symbol:TOR1A semapv:UnspecifiedMatching OMIM:605204 TOR1A skos:exactMatch ncbigene:1861 semapv:UnspecifiedMatching -OMIM:605205 ADCY10 skos:exactMatch hgnc:ADCY10 semapv:UnspecifiedMatching +OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:21285 semapv:UnspecifiedMatching +OMIM:605205 ADCY10 skos:exactMatch hgnc.symbol:ADCY10 semapv:UnspecifiedMatching OMIM:605205 ADCY10 skos:exactMatch ncbigene:55811 semapv:UnspecifiedMatching -OMIM:605206 HCN4 skos:exactMatch hgnc:HCN4 semapv:UnspecifiedMatching +OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:16882 semapv:UnspecifiedMatching +OMIM:605206 HCN4 skos:exactMatch hgnc.symbol:HCN4 semapv:UnspecifiedMatching OMIM:605206 HCN4 skos:exactMatch ncbigene:10021 semapv:UnspecifiedMatching -OMIM:605207 CYP26B1 skos:exactMatch hgnc:CYP26B1 semapv:UnspecifiedMatching +OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:20581 semapv:UnspecifiedMatching +OMIM:605207 CYP26B1 skos:exactMatch hgnc.symbol:CYP26B1 semapv:UnspecifiedMatching OMIM:605207 CYP26B1 skos:exactMatch ncbigene:56603 semapv:UnspecifiedMatching -OMIM:605208 SLC17A7 skos:exactMatch hgnc:SLC17A7 semapv:UnspecifiedMatching +OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:16704 semapv:UnspecifiedMatching +OMIM:605208 SLC17A7 skos:exactMatch hgnc.symbol:SLC17A7 semapv:UnspecifiedMatching OMIM:605208 SLC17A7 skos:exactMatch ncbigene:57030 semapv:UnspecifiedMatching -OMIM:605209 CHFR skos:exactMatch hgnc:CHFR semapv:UnspecifiedMatching +OMIM:605209 CHFR skos:exactMatch hgnc.symbol:20455 semapv:UnspecifiedMatching +OMIM:605209 CHFR skos:exactMatch hgnc.symbol:CHFR semapv:UnspecifiedMatching OMIM:605209 CHFR skos:exactMatch ncbigene:55743 semapv:UnspecifiedMatching -OMIM:605210 DISC1 skos:exactMatch hgnc:DISC1 semapv:UnspecifiedMatching +OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:2888 semapv:UnspecifiedMatching +OMIM:605210 DISC1 skos:exactMatch hgnc.symbol:DISC1 semapv:UnspecifiedMatching OMIM:605210 DISC1 skos:exactMatch ncbigene:27185 semapv:UnspecifiedMatching -OMIM:605211 BARHL1 skos:exactMatch hgnc:BARHL1 semapv:UnspecifiedMatching +OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:953 semapv:UnspecifiedMatching +OMIM:605211 BARHL1 skos:exactMatch hgnc.symbol:BARHL1 semapv:UnspecifiedMatching OMIM:605211 BARHL1 skos:exactMatch ncbigene:56751 semapv:UnspecifiedMatching -OMIM:605212 BARHL2 skos:exactMatch hgnc:BARHL2 semapv:UnspecifiedMatching +OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:954 semapv:UnspecifiedMatching +OMIM:605212 BARHL2 skos:exactMatch hgnc.symbol:BARHL2 semapv:UnspecifiedMatching OMIM:605212 BARHL2 skos:exactMatch ncbigene:343472 semapv:UnspecifiedMatching -OMIM:605213 PDPK1 skos:exactMatch hgnc:PDPK1 semapv:UnspecifiedMatching +OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:8816 semapv:UnspecifiedMatching +OMIM:605213 PDPK1 skos:exactMatch hgnc.symbol:PDPK1 semapv:UnspecifiedMatching OMIM:605213 PDPK1 skos:exactMatch ncbigene:5170 semapv:UnspecifiedMatching -OMIM:605214 KCNMB2 skos:exactMatch hgnc:KCNMB2 semapv:UnspecifiedMatching +OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:6286 semapv:UnspecifiedMatching +OMIM:605214 KCNMB2 skos:exactMatch hgnc.symbol:KCNMB2 semapv:UnspecifiedMatching OMIM:605214 KCNMB2 skos:exactMatch ncbigene:10242 semapv:UnspecifiedMatching -OMIM:605215 SKAP2 skos:exactMatch hgnc:SKAP2 semapv:UnspecifiedMatching +OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:15687 semapv:UnspecifiedMatching +OMIM:605215 SKAP2 skos:exactMatch hgnc.symbol:SKAP2 semapv:UnspecifiedMatching OMIM:605215 SKAP2 skos:exactMatch ncbigene:8935 semapv:UnspecifiedMatching -OMIM:605216 ARHGEF4 skos:exactMatch hgnc:ARHGEF4 semapv:UnspecifiedMatching +OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:684 semapv:UnspecifiedMatching +OMIM:605216 ARHGEF4 skos:exactMatch hgnc.symbol:ARHGEF4 semapv:UnspecifiedMatching OMIM:605216 ARHGEF4 skos:exactMatch ncbigene:50649 semapv:UnspecifiedMatching -OMIM:605217 SHC2 skos:exactMatch hgnc:SHC2 semapv:UnspecifiedMatching +OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:29869 semapv:UnspecifiedMatching +OMIM:605217 SHC2 skos:exactMatch hgnc.symbol:SHC2 semapv:UnspecifiedMatching OMIM:605217 SHC2 skos:exactMatch ncbigene:25759 semapv:UnspecifiedMatching -OMIM:605219 DIABLO skos:exactMatch hgnc:DIABLO semapv:UnspecifiedMatching +OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:21528 semapv:UnspecifiedMatching +OMIM:605219 DIABLO skos:exactMatch hgnc.symbol:DIABLO semapv:UnspecifiedMatching OMIM:605219 DIABLO skos:exactMatch ncbigene:56616 semapv:UnspecifiedMatching -OMIM:605220 APOBR skos:exactMatch hgnc:APOBR semapv:UnspecifiedMatching +OMIM:605220 APOBR skos:exactMatch hgnc.symbol:24087 semapv:UnspecifiedMatching +OMIM:605220 APOBR skos:exactMatch hgnc.symbol:APOBR semapv:UnspecifiedMatching OMIM:605220 APOBR skos:exactMatch ncbigene:55911 semapv:UnspecifiedMatching -OMIM:605221 SRSF10 skos:exactMatch hgnc:SRSF10 semapv:UnspecifiedMatching +OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:16713 semapv:UnspecifiedMatching +OMIM:605221 SRSF10 skos:exactMatch hgnc.symbol:SRSF10 semapv:UnspecifiedMatching OMIM:605221 SRSF10 skos:exactMatch ncbigene:10772 semapv:UnspecifiedMatching -OMIM:605222 KCNMB3 skos:exactMatch hgnc:KCNMB3 semapv:UnspecifiedMatching +OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:6287 semapv:UnspecifiedMatching +OMIM:605222 KCNMB3 skos:exactMatch hgnc.symbol:KCNMB3 semapv:UnspecifiedMatching OMIM:605222 KCNMB3 skos:exactMatch ncbigene:27094 semapv:UnspecifiedMatching -OMIM:605223 KCNMB4 skos:exactMatch hgnc:KCNMB4 semapv:UnspecifiedMatching +OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:6289 semapv:UnspecifiedMatching +OMIM:605223 KCNMB4 skos:exactMatch hgnc.symbol:KCNMB4 semapv:UnspecifiedMatching OMIM:605223 KCNMB4 skos:exactMatch ncbigene:27345 semapv:UnspecifiedMatching -OMIM:605224 RRH skos:exactMatch hgnc:RRH semapv:UnspecifiedMatching +OMIM:605224 RRH skos:exactMatch hgnc.symbol:10450 semapv:UnspecifiedMatching +OMIM:605224 RRH skos:exactMatch hgnc.symbol:RRH semapv:UnspecifiedMatching OMIM:605224 RRH skos:exactMatch ncbigene:10692 semapv:UnspecifiedMatching -OMIM:605226 RERE skos:exactMatch hgnc:RERE semapv:UnspecifiedMatching +OMIM:605226 RERE skos:exactMatch hgnc.symbol:9965 semapv:UnspecifiedMatching +OMIM:605226 RERE skos:exactMatch hgnc.symbol:RERE semapv:UnspecifiedMatching OMIM:605226 RERE skos:exactMatch ncbigene:473 semapv:UnspecifiedMatching -OMIM:605227 RECK skos:exactMatch hgnc:RECK semapv:UnspecifiedMatching +OMIM:605227 RECK skos:exactMatch hgnc.symbol:11345 semapv:UnspecifiedMatching +OMIM:605227 RECK skos:exactMatch hgnc.symbol:RECK semapv:UnspecifiedMatching OMIM:605227 RECK skos:exactMatch ncbigene:8434 semapv:UnspecifiedMatching -OMIM:605228 CIR1 skos:exactMatch hgnc:CIR1 semapv:UnspecifiedMatching +OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:24217 semapv:UnspecifiedMatching +OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:CIR1 semapv:UnspecifiedMatching OMIM:605228 CIR1 skos:exactMatch ncbigene:9541 semapv:UnspecifiedMatching -OMIM:605230 TP53BP1 skos:exactMatch hgnc:TP53BP1 semapv:UnspecifiedMatching +OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:11999 semapv:UnspecifiedMatching +OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:TP53BP1 semapv:UnspecifiedMatching OMIM:605230 TP53BP1 skos:exactMatch ncbigene:7158 semapv:UnspecifiedMatching -OMIM:605232 WNK1 skos:exactMatch hgnc:WNK1 semapv:UnspecifiedMatching +OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:14540 semapv:UnspecifiedMatching +OMIM:605232 WNK1 skos:exactMatch hgnc.symbol:WNK1 semapv:UnspecifiedMatching OMIM:605232 WNK1 skos:exactMatch ncbigene:65125 semapv:UnspecifiedMatching -OMIM:605234 VN1R1 skos:exactMatch hgnc:VN1R1 semapv:UnspecifiedMatching +OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:13548 semapv:UnspecifiedMatching +OMIM:605234 VN1R1 skos:exactMatch hgnc.symbol:VN1R1 semapv:UnspecifiedMatching OMIM:605234 VN1R1 skos:exactMatch ncbigene:57191 semapv:UnspecifiedMatching -OMIM:605235 NOL3 skos:exactMatch hgnc:NOL3 semapv:UnspecifiedMatching +OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:7869 semapv:UnspecifiedMatching +OMIM:605235 NOL3 skos:exactMatch hgnc.symbol:NOL3 semapv:UnspecifiedMatching OMIM:605235 NOL3 skos:exactMatch ncbigene:8996 semapv:UnspecifiedMatching -OMIM:605236 CORIN skos:exactMatch hgnc:CORIN semapv:UnspecifiedMatching +OMIM:605236 CORIN skos:exactMatch hgnc.symbol:19012 semapv:UnspecifiedMatching +OMIM:605236 CORIN skos:exactMatch hgnc.symbol:CORIN semapv:UnspecifiedMatching OMIM:605236 CORIN skos:exactMatch ncbigene:10699 semapv:UnspecifiedMatching -OMIM:605237 XPR1 skos:exactMatch hgnc:XPR1 semapv:UnspecifiedMatching +OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:12827 semapv:UnspecifiedMatching +OMIM:605237 XPR1 skos:exactMatch hgnc.symbol:XPR1 semapv:UnspecifiedMatching OMIM:605237 XPR1 skos:exactMatch ncbigene:9213 semapv:UnspecifiedMatching -OMIM:605238 HNMT skos:exactMatch hgnc:HNMT semapv:UnspecifiedMatching +OMIM:605238 HNMT skos:exactMatch hgnc.symbol:5028 semapv:UnspecifiedMatching +OMIM:605238 HNMT skos:exactMatch hgnc.symbol:HNMT semapv:UnspecifiedMatching OMIM:605238 HNMT skos:exactMatch ncbigene:3176 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C1412686 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5399980 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436959 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch UMLS:C5436960 semapv:UnspecifiedMatching -OMIM:605239 ATP6V0A4 skos:exactMatch hgnc:ATP6V0A4 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:866 semapv:UnspecifiedMatching +OMIM:605239 ATP6V0A4 skos:exactMatch hgnc.symbol:ATP6V0A4 semapv:UnspecifiedMatching OMIM:605239 ATP6V0A4 skos:exactMatch ncbigene:50617 semapv:UnspecifiedMatching -OMIM:605240 CCL28 skos:exactMatch hgnc:CCL28 semapv:UnspecifiedMatching +OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:17700 semapv:UnspecifiedMatching +OMIM:605240 CCL28 skos:exactMatch hgnc.symbol:CCL28 semapv:UnspecifiedMatching OMIM:605240 CCL28 skos:exactMatch ncbigene:56477 semapv:UnspecifiedMatching -OMIM:605241 LY86 skos:exactMatch hgnc:LY86 semapv:UnspecifiedMatching +OMIM:605241 LY86 skos:exactMatch hgnc.symbol:16837 semapv:UnspecifiedMatching +OMIM:605241 LY86 skos:exactMatch hgnc.symbol:LY86 semapv:UnspecifiedMatching OMIM:605241 LY86 skos:exactMatch ncbigene:9450 semapv:UnspecifiedMatching OMIM:605242 USH1C skos:exactMatch UMLS:C1421379 semapv:UnspecifiedMatching OMIM:605242 USH1C skos:exactMatch UMLS:C1848604 semapv:UnspecifiedMatching OMIM:605242 USH1C skos:exactMatch UMLS:C1865870 semapv:UnspecifiedMatching OMIM:605242 USH1C skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605242 USH1C skos:exactMatch hgnc:USH1C semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch hgnc.symbol:12597 semapv:UnspecifiedMatching +OMIM:605242 USH1C skos:exactMatch hgnc.symbol:USH1C semapv:UnspecifiedMatching OMIM:605242 USH1C skos:exactMatch ncbigene:10083 semapv:UnspecifiedMatching -OMIM:605243 LY96 skos:exactMatch hgnc:LY96 semapv:UnspecifiedMatching +OMIM:605243 LY96 skos:exactMatch hgnc.symbol:17156 semapv:UnspecifiedMatching +OMIM:605243 LY96 skos:exactMatch hgnc.symbol:LY96 semapv:UnspecifiedMatching OMIM:605243 LY96 skos:exactMatch ncbigene:23643 semapv:UnspecifiedMatching -OMIM:605245 SLC2A8 skos:exactMatch hgnc:SLC2A8 semapv:UnspecifiedMatching +OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:13812 semapv:UnspecifiedMatching +OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:SLC2A8 semapv:UnspecifiedMatching OMIM:605245 SLC2A8 skos:exactMatch ncbigene:29988 semapv:UnspecifiedMatching -OMIM:605246 C3AR1 skos:exactMatch hgnc:C3AR1 semapv:UnspecifiedMatching +OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:1319 semapv:UnspecifiedMatching +OMIM:605246 C3AR1 skos:exactMatch hgnc.symbol:C3AR1 semapv:UnspecifiedMatching OMIM:605246 C3AR1 skos:exactMatch ncbigene:719 semapv:UnspecifiedMatching -OMIM:605247 PIDD1 skos:exactMatch hgnc:PIDD1 semapv:UnspecifiedMatching +OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:16491 semapv:UnspecifiedMatching +OMIM:605247 PIDD1 skos:exactMatch hgnc.symbol:PIDD1 semapv:UnspecifiedMatching OMIM:605247 PIDD1 skos:exactMatch ncbigene:55367 semapv:UnspecifiedMatching OMIM:605248 MCOLN1 skos:exactMatch UMLS:C0238286 semapv:UnspecifiedMatching OMIM:605248 MCOLN1 skos:exactMatch UMLS:C1421947 semapv:UnspecifiedMatching -OMIM:605248 MCOLN1 skos:exactMatch hgnc:MCOLN1 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:13356 semapv:UnspecifiedMatching +OMIM:605248 MCOLN1 skos:exactMatch hgnc.symbol:MCOLN1 semapv:UnspecifiedMatching OMIM:605248 MCOLN1 skos:exactMatch ncbigene:57192 semapv:UnspecifiedMatching -OMIM:605250 ABCC4 skos:exactMatch hgnc:ABCC4 semapv:UnspecifiedMatching +OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:55 semapv:UnspecifiedMatching +OMIM:605250 ABCC4 skos:exactMatch hgnc.symbol:ABCC4 semapv:UnspecifiedMatching OMIM:605250 ABCC4 skos:exactMatch ncbigene:10257 semapv:UnspecifiedMatching -OMIM:605251 ABCC5 skos:exactMatch hgnc:ABCC5 semapv:UnspecifiedMatching +OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:56 semapv:UnspecifiedMatching +OMIM:605251 ABCC5 skos:exactMatch hgnc.symbol:ABCC5 semapv:UnspecifiedMatching OMIM:605251 ABCC5 skos:exactMatch ncbigene:10057 semapv:UnspecifiedMatching -OMIM:605252 POLI skos:exactMatch hgnc:POLI semapv:UnspecifiedMatching +OMIM:605252 POLI skos:exactMatch hgnc.symbol:9182 semapv:UnspecifiedMatching +OMIM:605252 POLI skos:exactMatch hgnc.symbol:POLI semapv:UnspecifiedMatching OMIM:605252 POLI skos:exactMatch ncbigene:11201 semapv:UnspecifiedMatching +OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch Orphanet:99951 semapv:UnspecifiedMatching OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721436 semapv:UnspecifiedMatching OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch UMLS:C4721437 semapv:UnspecifiedMatching -OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive skos:exactMatch orphanet.ordo:99951 semapv:UnspecifiedMatching -OMIM:605254 NCSTN skos:exactMatch hgnc:NCSTN semapv:UnspecifiedMatching +OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:17091 semapv:UnspecifiedMatching +OMIM:605254 NCSTN skos:exactMatch hgnc.symbol:NCSTN semapv:UnspecifiedMatching OMIM:605254 NCSTN skos:exactMatch ncbigene:23385 semapv:UnspecifiedMatching -OMIM:605255 ETV7 skos:exactMatch hgnc:ETV7 semapv:UnspecifiedMatching +OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:18160 semapv:UnspecifiedMatching +OMIM:605255 ETV7 skos:exactMatch hgnc.symbol:ETV7 semapv:UnspecifiedMatching OMIM:605255 ETV7 skos:exactMatch ncbigene:51513 semapv:UnspecifiedMatching -OMIM:605256 RAD18 skos:exactMatch hgnc:RAD18 semapv:UnspecifiedMatching +OMIM:605256 RAD18 skos:exactMatch hgnc.symbol:18278 semapv:UnspecifiedMatching +OMIM:605256 RAD18 skos:exactMatch hgnc.symbol:RAD18 semapv:UnspecifiedMatching OMIM:605256 RAD18 skos:exactMatch ncbigene:56852 semapv:UnspecifiedMatching -OMIM:605257 AICDA skos:exactMatch hgnc:AICDA semapv:UnspecifiedMatching +OMIM:605257 AICDA skos:exactMatch hgnc.symbol:13203 semapv:UnspecifiedMatching +OMIM:605257 AICDA skos:exactMatch hgnc.symbol:AICDA semapv:UnspecifiedMatching OMIM:605257 AICDA skos:exactMatch ncbigene:57379 semapv:UnspecifiedMatching -OMIM:605261 NOX4 skos:exactMatch hgnc:NOX4 semapv:UnspecifiedMatching +OMIM:605261 NOX4 skos:exactMatch hgnc.symbol:7891 semapv:UnspecifiedMatching +OMIM:605261 NOX4 skos:exactMatch hgnc.symbol:NOX4 semapv:UnspecifiedMatching OMIM:605261 NOX4 skos:exactMatch ncbigene:50507 semapv:UnspecifiedMatching -OMIM:605262 NDRG1 skos:exactMatch hgnc:NDRG1 semapv:UnspecifiedMatching +OMIM:605262 NDRG1 skos:exactMatch hgnc.symbol:7679 semapv:UnspecifiedMatching +OMIM:605262 NDRG1 skos:exactMatch hgnc.symbol:NDRG1 semapv:UnspecifiedMatching OMIM:605262 NDRG1 skos:exactMatch ncbigene:10397 semapv:UnspecifiedMatching -OMIM:605263 SHC3 skos:exactMatch hgnc:SHC3 semapv:UnspecifiedMatching +OMIM:605263 SHC3 skos:exactMatch hgnc.symbol:18181 semapv:UnspecifiedMatching +OMIM:605263 SHC3 skos:exactMatch hgnc.symbol:SHC3 semapv:UnspecifiedMatching OMIM:605263 SHC3 skos:exactMatch ncbigene:53358 semapv:UnspecifiedMatching OMIM:605264 SORBS1 skos:exactMatch UMLS:C1422760 semapv:UnspecifiedMatching -OMIM:605264 SORBS1 skos:exactMatch hgnc:SORBS1 semapv:UnspecifiedMatching +OMIM:605264 SORBS1 skos:exactMatch hgnc.symbol:14565 semapv:UnspecifiedMatching +OMIM:605264 SORBS1 skos:exactMatch hgnc.symbol:SORBS1 semapv:UnspecifiedMatching OMIM:605264 SORBS1 skos:exactMatch ncbigene:10580 semapv:UnspecifiedMatching -OMIM:605265 AVEN skos:exactMatch hgnc:AVEN semapv:UnspecifiedMatching +OMIM:605265 AVEN skos:exactMatch hgnc.symbol:13509 semapv:UnspecifiedMatching +OMIM:605265 AVEN skos:exactMatch hgnc.symbol:AVEN semapv:UnspecifiedMatching OMIM:605265 AVEN skos:exactMatch ncbigene:57099 semapv:UnspecifiedMatching -OMIM:605266 JPH1 skos:exactMatch hgnc:JPH1 semapv:UnspecifiedMatching +OMIM:605266 JPH1 skos:exactMatch hgnc.symbol:14201 semapv:UnspecifiedMatching +OMIM:605266 JPH1 skos:exactMatch hgnc.symbol:JPH1 semapv:UnspecifiedMatching OMIM:605266 JPH1 skos:exactMatch ncbigene:56704 semapv:UnspecifiedMatching -OMIM:605267 JPH2 skos:exactMatch hgnc:JPH2 semapv:UnspecifiedMatching +OMIM:605267 JPH2 skos:exactMatch hgnc.symbol:14202 semapv:UnspecifiedMatching +OMIM:605267 JPH2 skos:exactMatch hgnc.symbol:JPH2 semapv:UnspecifiedMatching OMIM:605267 JPH2 skos:exactMatch ncbigene:57158 semapv:UnspecifiedMatching -OMIM:605268 JPH3 skos:exactMatch hgnc:JPH3 semapv:UnspecifiedMatching +OMIM:605268 JPH3 skos:exactMatch hgnc.symbol:14203 semapv:UnspecifiedMatching +OMIM:605268 JPH3 skos:exactMatch hgnc.symbol:JPH3 semapv:UnspecifiedMatching OMIM:605268 JPH3 skos:exactMatch ncbigene:57338 semapv:UnspecifiedMatching -OMIM:605269 CORO1C skos:exactMatch hgnc:CORO1C semapv:UnspecifiedMatching +OMIM:605269 CORO1C skos:exactMatch hgnc.symbol:2254 semapv:UnspecifiedMatching +OMIM:605269 CORO1C skos:exactMatch hgnc.symbol:CORO1C semapv:UnspecifiedMatching OMIM:605269 CORO1C skos:exactMatch ncbigene:23603 semapv:UnspecifiedMatching -OMIM:605270 SGSH skos:exactMatch hgnc:SGSH semapv:UnspecifiedMatching +OMIM:605270 SGSH skos:exactMatch hgnc.symbol:10818 semapv:UnspecifiedMatching +OMIM:605270 SGSH skos:exactMatch hgnc.symbol:SGSH semapv:UnspecifiedMatching OMIM:605270 SGSH skos:exactMatch ncbigene:6448 semapv:UnspecifiedMatching -OMIM:605271 SERPINA10 skos:exactMatch hgnc:SERPINA10 semapv:UnspecifiedMatching +OMIM:605271 SERPINA10 skos:exactMatch hgnc.symbol:15996 semapv:UnspecifiedMatching +OMIM:605271 SERPINA10 skos:exactMatch hgnc.symbol:SERPINA10 semapv:UnspecifiedMatching OMIM:605271 SERPINA10 skos:exactMatch ncbigene:51156 semapv:UnspecifiedMatching -OMIM:605272 NDRG2 skos:exactMatch hgnc:NDRG2 semapv:UnspecifiedMatching +OMIM:605272 NDRG2 skos:exactMatch hgnc.symbol:14460 semapv:UnspecifiedMatching +OMIM:605272 NDRG2 skos:exactMatch hgnc.symbol:NDRG2 semapv:UnspecifiedMatching OMIM:605272 NDRG2 skos:exactMatch ncbigene:57447 semapv:UnspecifiedMatching -OMIM:605273 NDRG3 skos:exactMatch hgnc:NDRG3 semapv:UnspecifiedMatching +OMIM:605273 NDRG3 skos:exactMatch hgnc.symbol:14462 semapv:UnspecifiedMatching +OMIM:605273 NDRG3 skos:exactMatch hgnc.symbol:NDRG3 semapv:UnspecifiedMatching OMIM:605273 NDRG3 skos:exactMatch ncbigene:57446 semapv:UnspecifiedMatching -OMIM:605276 AATK skos:exactMatch hgnc:AATK semapv:UnspecifiedMatching +OMIM:605276 AATK skos:exactMatch hgnc.symbol:21 semapv:UnspecifiedMatching +OMIM:605276 AATK skos:exactMatch hgnc.symbol:AATK semapv:UnspecifiedMatching OMIM:605276 AATK skos:exactMatch ncbigene:9625 semapv:UnspecifiedMatching -OMIM:605277 GRLF1 skos:exactMatch hgnc:ARHGAP35 semapv:UnspecifiedMatching +OMIM:605277 GRLF1 skos:exactMatch hgnc.symbol:4591 semapv:UnspecifiedMatching +OMIM:605277 GRLF1 skos:exactMatch hgnc.symbol:ARHGAP35 semapv:UnspecifiedMatching OMIM:605277 GRLF1 skos:exactMatch ncbigene:2909 semapv:UnspecifiedMatching -OMIM:605278 CES2 skos:exactMatch hgnc:CES2 semapv:UnspecifiedMatching +OMIM:605278 CES2 skos:exactMatch hgnc.symbol:1864 semapv:UnspecifiedMatching +OMIM:605278 CES2 skos:exactMatch hgnc.symbol:CES2 semapv:UnspecifiedMatching OMIM:605278 CES2 skos:exactMatch ncbigene:8824 semapv:UnspecifiedMatching -OMIM:605279 CES3 skos:exactMatch hgnc:CES3 semapv:UnspecifiedMatching +OMIM:605279 CES3 skos:exactMatch hgnc.symbol:1865 semapv:UnspecifiedMatching +OMIM:605279 CES3 skos:exactMatch hgnc.symbol:CES3 semapv:UnspecifiedMatching OMIM:605279 CES3 skos:exactMatch ncbigene:23491 semapv:UnspecifiedMatching OMIM:605281 DDX4 skos:exactMatch UMLS:C1425720 semapv:UnspecifiedMatching -OMIM:605281 DDX4 skos:exactMatch hgnc:DDX4 semapv:UnspecifiedMatching +OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:18700 semapv:UnspecifiedMatching +OMIM:605281 DDX4 skos:exactMatch hgnc.symbol:DDX4 semapv:UnspecifiedMatching OMIM:605281 DDX4 skos:exactMatch ncbigene:54514 semapv:UnspecifiedMatching OMIM:605283 MAGEL2 skos:exactMatch UMLS:C1416986 semapv:UnspecifiedMatching OMIM:605283 MAGEL2 skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching -OMIM:605283 MAGEL2 skos:exactMatch hgnc:MAGEL2 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:6814 semapv:UnspecifiedMatching +OMIM:605283 MAGEL2 skos:exactMatch hgnc.symbol:MAGEL2 semapv:UnspecifiedMatching OMIM:605283 MAGEL2 skos:exactMatch ncbigene:54551 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C0694894 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C0751674 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C1854465 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch UMLS:C4479673 semapv:UnspecifiedMatching -OMIM:605284 TSC1 skos:exactMatch hgnc:TSC1 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch hgnc.symbol:12362 semapv:UnspecifiedMatching +OMIM:605284 TSC1 skos:exactMatch hgnc.symbol:TSC1 semapv:UnspecifiedMatching OMIM:605284 TSC1 skos:exactMatch ncbigene:7248 semapv:UnspecifiedMatching OMIM:605286 CAPN10 skos:exactMatch UMLS:C1413110 semapv:UnspecifiedMatching OMIM:605286 CAPN10 skos:exactMatch UMLS:C1854448 semapv:UnspecifiedMatching OMIM:605286 CAPN10 skos:exactMatch UMLS:C5436961 semapv:UnspecifiedMatching -OMIM:605286 CAPN10 skos:exactMatch hgnc:CAPN10 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch hgnc.symbol:1477 semapv:UnspecifiedMatching +OMIM:605286 CAPN10 skos:exactMatch hgnc.symbol:CAPN10 semapv:UnspecifiedMatching OMIM:605286 CAPN10 skos:exactMatch ncbigene:11132 semapv:UnspecifiedMatching -OMIM:605287 RNPEPL1 skos:exactMatch hgnc:RNPEPL1 semapv:UnspecifiedMatching +OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:10079 semapv:UnspecifiedMatching +OMIM:605287 RNPEPL1 skos:exactMatch hgnc.symbol:RNPEPL1 semapv:UnspecifiedMatching OMIM:605287 RNPEPL1 skos:exactMatch ncbigene:57140 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C0221061 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C0338508 semapv:UnspecifiedMatching @@ -19350,1674 +26642,2405 @@ OMIM:605290 OPA1 skos:exactMatch UMLS:C1417953 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C1847730 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C3276549 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch UMLS:C4225538 semapv:UnspecifiedMatching -OMIM:605290 OPA1 skos:exactMatch hgnc:OPA1 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:8140 semapv:UnspecifiedMatching +OMIM:605290 OPA1 skos:exactMatch hgnc.symbol:OPA1 semapv:UnspecifiedMatching OMIM:605290 OPA1 skos:exactMatch ncbigene:4976 semapv:UnspecifiedMatching -OMIM:605292 NT5M skos:exactMatch hgnc:NT5M semapv:UnspecifiedMatching +OMIM:605292 NT5M skos:exactMatch hgnc.symbol:15769 semapv:UnspecifiedMatching +OMIM:605292 NT5M skos:exactMatch hgnc.symbol:NT5M semapv:UnspecifiedMatching OMIM:605292 NT5M skos:exactMatch ncbigene:56953 semapv:UnspecifiedMatching -OMIM:605294 CHST6 skos:exactMatch hgnc:CHST6 semapv:UnspecifiedMatching +OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:6938 semapv:UnspecifiedMatching +OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:CHST6 semapv:UnspecifiedMatching OMIM:605294 CHST6 skos:exactMatch ncbigene:4166 semapv:UnspecifiedMatching -OMIM:605295 FIGN skos:exactMatch hgnc:FIGN semapv:UnspecifiedMatching +OMIM:605295 FIGN skos:exactMatch hgnc.symbol:13285 semapv:UnspecifiedMatching +OMIM:605295 FIGN skos:exactMatch hgnc.symbol:FIGN semapv:UnspecifiedMatching OMIM:605295 FIGN skos:exactMatch ncbigene:55137 semapv:UnspecifiedMatching -OMIM:605296 PSMG1 skos:exactMatch hgnc:PSMG1 semapv:UnspecifiedMatching +OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:3043 semapv:UnspecifiedMatching +OMIM:605296 PSMG1 skos:exactMatch hgnc.symbol:PSMG1 semapv:UnspecifiedMatching OMIM:605296 PSMG1 skos:exactMatch ncbigene:8624 semapv:UnspecifiedMatching -OMIM:605297 NELFCD skos:exactMatch hgnc:NELFCD semapv:UnspecifiedMatching +OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:15934 semapv:UnspecifiedMatching +OMIM:605297 NELFCD skos:exactMatch hgnc.symbol:NELFCD semapv:UnspecifiedMatching OMIM:605297 NELFCD skos:exactMatch ncbigene:51497 semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch UMLS:C1414164 semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605298 VPS26C skos:exactMatch hgnc:VPS26C semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:3044 semapv:UnspecifiedMatching +OMIM:605298 VPS26C skos:exactMatch hgnc.symbol:VPS26C semapv:UnspecifiedMatching OMIM:605298 VPS26C skos:exactMatch ncbigene:10311 semapv:UnspecifiedMatching -OMIM:605299 NCOA6 skos:exactMatch hgnc:NCOA6 semapv:UnspecifiedMatching +OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:15936 semapv:UnspecifiedMatching +OMIM:605299 NCOA6 skos:exactMatch hgnc.symbol:NCOA6 semapv:UnspecifiedMatching OMIM:605299 NCOA6 skos:exactMatch ncbigene:23054 semapv:UnspecifiedMatching -OMIM:605300 SH2B2 skos:exactMatch hgnc:SH2B2 semapv:UnspecifiedMatching +OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:17381 semapv:UnspecifiedMatching +OMIM:605300 SH2B2 skos:exactMatch hgnc.symbol:SH2B2 semapv:UnspecifiedMatching OMIM:605300 SH2B2 skos:exactMatch ncbigene:10603 semapv:UnspecifiedMatching -OMIM:605301 TACC1 skos:exactMatch hgnc:TACC1 semapv:UnspecifiedMatching +OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:11522 semapv:UnspecifiedMatching +OMIM:605301 TACC1 skos:exactMatch hgnc.symbol:TACC1 semapv:UnspecifiedMatching OMIM:605301 TACC1 skos:exactMatch ncbigene:6867 semapv:UnspecifiedMatching -OMIM:605302 TACC2 skos:exactMatch hgnc:TACC2 semapv:UnspecifiedMatching +OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:11523 semapv:UnspecifiedMatching +OMIM:605302 TACC2 skos:exactMatch hgnc.symbol:TACC2 semapv:UnspecifiedMatching OMIM:605302 TACC2 skos:exactMatch ncbigene:10579 semapv:UnspecifiedMatching -OMIM:605303 TACC3 skos:exactMatch hgnc:TACC3 semapv:UnspecifiedMatching +OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:11524 semapv:UnspecifiedMatching +OMIM:605303 TACC3 skos:exactMatch hgnc.symbol:TACC3 semapv:UnspecifiedMatching OMIM:605303 TACC3 skos:exactMatch ncbigene:10460 semapv:UnspecifiedMatching -OMIM:605304 NGB skos:exactMatch hgnc:NGB semapv:UnspecifiedMatching +OMIM:605304 NGB skos:exactMatch hgnc.symbol:14077 semapv:UnspecifiedMatching +OMIM:605304 NGB skos:exactMatch hgnc.symbol:NGB semapv:UnspecifiedMatching OMIM:605304 NGB skos:exactMatch ncbigene:58157 semapv:UnspecifiedMatching -OMIM:605305 KIR2DL5A skos:exactMatch hgnc:KIR2DL5A semapv:UnspecifiedMatching +OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:16345 semapv:UnspecifiedMatching +OMIM:605305 KIR2DL5A skos:exactMatch hgnc.symbol:KIR2DL5A semapv:UnspecifiedMatching OMIM:605305 KIR2DL5A skos:exactMatch ncbigene:57292 semapv:UnspecifiedMatching -OMIM:605306 CLEC4A skos:exactMatch hgnc:CLEC4A semapv:UnspecifiedMatching +OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:13257 semapv:UnspecifiedMatching +OMIM:605306 CLEC4A skos:exactMatch hgnc.symbol:CLEC4A semapv:UnspecifiedMatching OMIM:605306 CLEC4A skos:exactMatch ncbigene:50856 semapv:UnspecifiedMatching -OMIM:605307 ADMR skos:exactMatch hgnc:GPR182 semapv:UnspecifiedMatching +OMIM:605307 ADMR skos:exactMatch hgnc.symbol:13708 semapv:UnspecifiedMatching +OMIM:605307 ADMR skos:exactMatch hgnc.symbol:GPR182 semapv:UnspecifiedMatching OMIM:605307 ADMR skos:exactMatch ncbigene:11318 semapv:UnspecifiedMatching -OMIM:605308 ZNF346 skos:exactMatch hgnc:ZNF346 semapv:UnspecifiedMatching +OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:16403 semapv:UnspecifiedMatching +OMIM:605308 ZNF346 skos:exactMatch hgnc.symbol:ZNF346 semapv:UnspecifiedMatching OMIM:605308 ZNF346 skos:exactMatch ncbigene:23567 semapv:UnspecifiedMatching -OMIM:605310 CCHCR1 skos:exactMatch hgnc:CCHCR1 semapv:UnspecifiedMatching +OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:13930 semapv:UnspecifiedMatching +OMIM:605310 CCHCR1 skos:exactMatch hgnc.symbol:CCHCR1 semapv:UnspecifiedMatching OMIM:605310 CCHCR1 skos:exactMatch ncbigene:54535 semapv:UnspecifiedMatching -OMIM:605312 GDF15 skos:exactMatch hgnc:GDF15 semapv:UnspecifiedMatching +OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:30142 semapv:UnspecifiedMatching +OMIM:605312 GDF15 skos:exactMatch hgnc.symbol:GDF15 semapv:UnspecifiedMatching OMIM:605312 GDF15 skos:exactMatch ncbigene:9518 semapv:UnspecifiedMatching -OMIM:605313 RBM8A skos:exactMatch hgnc:RBM8A semapv:UnspecifiedMatching +OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:9905 semapv:UnspecifiedMatching +OMIM:605313 RBM8A skos:exactMatch hgnc.symbol:RBM8A semapv:UnspecifiedMatching OMIM:605313 RBM8A skos:exactMatch ncbigene:9939 semapv:UnspecifiedMatching OMIM:605314 HDAC4 skos:exactMatch UMLS:C1333893 semapv:UnspecifiedMatching OMIM:605314 HDAC4 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:605314 HDAC4 skos:exactMatch hgnc:HDAC4 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:14063 semapv:UnspecifiedMatching +OMIM:605314 HDAC4 skos:exactMatch hgnc.symbol:HDAC4 semapv:UnspecifiedMatching OMIM:605314 HDAC4 skos:exactMatch ncbigene:9759 semapv:UnspecifiedMatching -OMIM:605315 HDAC5 skos:exactMatch hgnc:HDAC5 semapv:UnspecifiedMatching +OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:14068 semapv:UnspecifiedMatching +OMIM:605315 HDAC5 skos:exactMatch hgnc.symbol:HDAC5 semapv:UnspecifiedMatching OMIM:605315 HDAC5 skos:exactMatch ncbigene:10014 semapv:UnspecifiedMatching OMIM:605317 FOXP2 skos:exactMatch UMLS:C0750927 semapv:UnspecifiedMatching OMIM:605317 FOXP2 skos:exactMatch UMLS:C1422249 semapv:UnspecifiedMatching -OMIM:605317 FOXP2 skos:exactMatch hgnc:FOXP2 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:13875 semapv:UnspecifiedMatching +OMIM:605317 FOXP2 skos:exactMatch hgnc.symbol:FOXP2 semapv:UnspecifiedMatching OMIM:605317 FOXP2 skos:exactMatch ncbigene:93986 semapv:UnspecifiedMatching -OMIM:605319 PFKFB3 skos:exactMatch hgnc:PFKFB3 semapv:UnspecifiedMatching +OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:8874 semapv:UnspecifiedMatching +OMIM:605319 PFKFB3 skos:exactMatch hgnc.symbol:PFKFB3 semapv:UnspecifiedMatching OMIM:605319 PFKFB3 skos:exactMatch ncbigene:5209 semapv:UnspecifiedMatching -OMIM:605320 PFKFB4 skos:exactMatch hgnc:PFKFB4 semapv:UnspecifiedMatching +OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:8875 semapv:UnspecifiedMatching +OMIM:605320 PFKFB4 skos:exactMatch hgnc.symbol:PFKFB4 semapv:UnspecifiedMatching OMIM:605320 PFKFB4 skos:exactMatch ncbigene:5210 semapv:UnspecifiedMatching -OMIM:605322 WFDC1 skos:exactMatch hgnc:WFDC1 semapv:UnspecifiedMatching +OMIM:605322 WFDC1 skos:exactMatch hgnc.symbol:15466 semapv:UnspecifiedMatching +OMIM:605322 WFDC1 skos:exactMatch hgnc.symbol:WFDC1 semapv:UnspecifiedMatching OMIM:605322 WFDC1 skos:exactMatch ncbigene:58189 semapv:UnspecifiedMatching -OMIM:605323 CTDSP1 skos:exactMatch hgnc:CTDSP1 semapv:UnspecifiedMatching +OMIM:605323 CTDSP1 skos:exactMatch hgnc.symbol:21614 semapv:UnspecifiedMatching +OMIM:605323 CTDSP1 skos:exactMatch hgnc.symbol:CTDSP1 semapv:UnspecifiedMatching OMIM:605323 CTDSP1 skos:exactMatch ncbigene:58190 semapv:UnspecifiedMatching -OMIM:605324 APPBP2 skos:exactMatch hgnc:APPBP2 semapv:UnspecifiedMatching +OMIM:605324 APPBP2 skos:exactMatch hgnc.symbol:622 semapv:UnspecifiedMatching +OMIM:605324 APPBP2 skos:exactMatch hgnc.symbol:APPBP2 semapv:UnspecifiedMatching OMIM:605324 APPBP2 skos:exactMatch ncbigene:10513 semapv:UnspecifiedMatching -OMIM:605325 CYP3A5 skos:exactMatch hgnc:CYP3A5 semapv:UnspecifiedMatching +OMIM:605325 CYP3A5 skos:exactMatch hgnc.symbol:2638 semapv:UnspecifiedMatching +OMIM:605325 CYP3A5 skos:exactMatch hgnc.symbol:CYP3A5 semapv:UnspecifiedMatching OMIM:605325 CYP3A5 skos:exactMatch ncbigene:1577 semapv:UnspecifiedMatching -OMIM:605326 TAX1BP1 skos:exactMatch hgnc:TAX1BP1 semapv:UnspecifiedMatching +OMIM:605326 TAX1BP1 skos:exactMatch hgnc.symbol:11575 semapv:UnspecifiedMatching +OMIM:605326 TAX1BP1 skos:exactMatch hgnc.symbol:TAX1BP1 semapv:UnspecifiedMatching OMIM:605326 TAX1BP1 skos:exactMatch ncbigene:8887 semapv:UnspecifiedMatching -OMIM:605327 NFIL3 skos:exactMatch hgnc:NFIL3 semapv:UnspecifiedMatching +OMIM:605327 NFIL3 skos:exactMatch hgnc.symbol:7787 semapv:UnspecifiedMatching +OMIM:605327 NFIL3 skos:exactMatch hgnc.symbol:NFIL3 semapv:UnspecifiedMatching OMIM:605327 NFIL3 skos:exactMatch ncbigene:4783 semapv:UnspecifiedMatching -OMIM:605328 KLF13 skos:exactMatch hgnc:KLF13 semapv:UnspecifiedMatching +OMIM:605328 KLF13 skos:exactMatch hgnc.symbol:13672 semapv:UnspecifiedMatching +OMIM:605328 KLF13 skos:exactMatch hgnc.symbol:KLF13 semapv:UnspecifiedMatching OMIM:605328 KLF13 skos:exactMatch ncbigene:51621 semapv:UnspecifiedMatching OMIM:605330 IL22 skos:exactMatch UMLS:C1423038 semapv:UnspecifiedMatching -OMIM:605330 IL22 skos:exactMatch hgnc:IL22 semapv:UnspecifiedMatching +OMIM:605330 IL22 skos:exactMatch hgnc.symbol:14900 semapv:UnspecifiedMatching +OMIM:605330 IL22 skos:exactMatch hgnc.symbol:IL22 semapv:UnspecifiedMatching OMIM:605330 IL22 skos:exactMatch ncbigene:50616 semapv:UnspecifiedMatching -OMIM:605331 EPB41L3 skos:exactMatch hgnc:EPB41L3 semapv:UnspecifiedMatching +OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:3380 semapv:UnspecifiedMatching +OMIM:605331 EPB41L3 skos:exactMatch hgnc.symbol:EPB41L3 semapv:UnspecifiedMatching OMIM:605331 EPB41L3 skos:exactMatch ncbigene:23136 semapv:UnspecifiedMatching -OMIM:605332 KLHL1 skos:exactMatch hgnc:KLHL1 semapv:UnspecifiedMatching +OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:6352 semapv:UnspecifiedMatching +OMIM:605332 KLHL1 skos:exactMatch hgnc.symbol:KLHL1 semapv:UnspecifiedMatching OMIM:605332 KLHL1 skos:exactMatch ncbigene:57626 semapv:UnspecifiedMatching OMIM:605333 PDS5B skos:exactMatch UMLS:C1332105 semapv:UnspecifiedMatching -OMIM:605333 PDS5B skos:exactMatch hgnc:PDS5B semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:20418 semapv:UnspecifiedMatching +OMIM:605333 PDS5B skos:exactMatch hgnc.symbol:PDS5B semapv:UnspecifiedMatching OMIM:605333 PDS5B skos:exactMatch ncbigene:23047 semapv:UnspecifiedMatching -OMIM:605335 PHLDA1 skos:exactMatch hgnc:PHLDA1 semapv:UnspecifiedMatching +OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:8933 semapv:UnspecifiedMatching +OMIM:605335 PHLDA1 skos:exactMatch hgnc.symbol:PHLDA1 semapv:UnspecifiedMatching OMIM:605335 PHLDA1 skos:exactMatch ncbigene:22822 semapv:UnspecifiedMatching -OMIM:605336 CFHR3 skos:exactMatch hgnc:CFHR3 semapv:UnspecifiedMatching +OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:16980 semapv:UnspecifiedMatching +OMIM:605336 CFHR3 skos:exactMatch hgnc.symbol:CFHR3 semapv:UnspecifiedMatching OMIM:605336 CFHR3 skos:exactMatch ncbigene:10878 semapv:UnspecifiedMatching -OMIM:605337 CFHR4 skos:exactMatch hgnc:CFHR4 semapv:UnspecifiedMatching +OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:16979 semapv:UnspecifiedMatching +OMIM:605337 CFHR4 skos:exactMatch hgnc.symbol:CFHR4 semapv:UnspecifiedMatching OMIM:605337 CFHR4 skos:exactMatch ncbigene:10877 semapv:UnspecifiedMatching -OMIM:605338 INA skos:exactMatch hgnc:INA semapv:UnspecifiedMatching +OMIM:605338 INA skos:exactMatch hgnc.symbol:6057 semapv:UnspecifiedMatching +OMIM:605338 INA skos:exactMatch hgnc.symbol:INA semapv:UnspecifiedMatching OMIM:605338 INA skos:exactMatch ncbigene:9118 semapv:UnspecifiedMatching -OMIM:605339 FXR2 skos:exactMatch hgnc:FXR2 semapv:UnspecifiedMatching +OMIM:605339 FXR2 skos:exactMatch hgnc.symbol:4024 semapv:UnspecifiedMatching +OMIM:605339 FXR2 skos:exactMatch hgnc.symbol:FXR2 semapv:UnspecifiedMatching OMIM:605339 FXR2 skos:exactMatch ncbigene:9513 semapv:UnspecifiedMatching -OMIM:605340 CYP3A7 skos:exactMatch hgnc:CYP3A7 semapv:UnspecifiedMatching +OMIM:605340 CYP3A7 skos:exactMatch hgnc.symbol:2640 semapv:UnspecifiedMatching +OMIM:605340 CYP3A7 skos:exactMatch hgnc.symbol:CYP3A7 semapv:UnspecifiedMatching OMIM:605340 CYP3A7 skos:exactMatch ncbigene:1551 semapv:UnspecifiedMatching -OMIM:605341 PILRA skos:exactMatch hgnc:PILRA semapv:UnspecifiedMatching +OMIM:605341 PILRA skos:exactMatch hgnc.symbol:20396 semapv:UnspecifiedMatching +OMIM:605341 PILRA skos:exactMatch hgnc.symbol:PILRA semapv:UnspecifiedMatching OMIM:605341 PILRA skos:exactMatch ncbigene:29992 semapv:UnspecifiedMatching -OMIM:605342 PILRB skos:exactMatch hgnc:PILRB semapv:UnspecifiedMatching +OMIM:605342 PILRB skos:exactMatch hgnc.symbol:18297 semapv:UnspecifiedMatching +OMIM:605342 PILRB skos:exactMatch hgnc.symbol:PILRB semapv:UnspecifiedMatching OMIM:605342 PILRB skos:exactMatch ncbigene:29990 semapv:UnspecifiedMatching -OMIM:605343 FSTL3 skos:exactMatch hgnc:FSTL3 semapv:UnspecifiedMatching +OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:3973 semapv:UnspecifiedMatching +OMIM:605343 FSTL3 skos:exactMatch hgnc.symbol:FSTL3 semapv:UnspecifiedMatching OMIM:605343 FSTL3 skos:exactMatch ncbigene:10272 semapv:UnspecifiedMatching -OMIM:605344 NFYC skos:exactMatch hgnc:NFYC semapv:UnspecifiedMatching +OMIM:605344 NFYC skos:exactMatch hgnc.symbol:7806 semapv:UnspecifiedMatching +OMIM:605344 NFYC skos:exactMatch hgnc.symbol:NFYC semapv:UnspecifiedMatching OMIM:605344 NFYC skos:exactMatch ncbigene:4802 semapv:UnspecifiedMatching -OMIM:605345 ALKBH1 skos:exactMatch hgnc:ALKBH1 semapv:UnspecifiedMatching +OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:17911 semapv:UnspecifiedMatching +OMIM:605345 ALKBH1 skos:exactMatch hgnc.symbol:ALKBH1 semapv:UnspecifiedMatching OMIM:605345 ALKBH1 skos:exactMatch ncbigene:8846 semapv:UnspecifiedMatching -OMIM:605347 PADI4 skos:exactMatch hgnc:PADI4 semapv:UnspecifiedMatching +OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:18368 semapv:UnspecifiedMatching +OMIM:605347 PADI4 skos:exactMatch hgnc.symbol:PADI4 semapv:UnspecifiedMatching OMIM:605347 PADI4 skos:exactMatch ncbigene:23569 semapv:UnspecifiedMatching -OMIM:605348 TMEM50A skos:exactMatch hgnc:TMEM50A semapv:UnspecifiedMatching +OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:30590 semapv:UnspecifiedMatching +OMIM:605348 TMEM50A skos:exactMatch hgnc.symbol:TMEM50A semapv:UnspecifiedMatching OMIM:605348 TMEM50A skos:exactMatch ncbigene:23585 semapv:UnspecifiedMatching -OMIM:605349 NARF skos:exactMatch hgnc:NARF semapv:UnspecifiedMatching +OMIM:605349 NARF skos:exactMatch hgnc.symbol:29916 semapv:UnspecifiedMatching +OMIM:605349 NARF skos:exactMatch hgnc.symbol:NARF semapv:UnspecifiedMatching OMIM:605349 NARF skos:exactMatch ncbigene:26502 semapv:UnspecifiedMatching -OMIM:605350 IL27RA skos:exactMatch hgnc:IL27RA semapv:UnspecifiedMatching +OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:17290 semapv:UnspecifiedMatching +OMIM:605350 IL27RA skos:exactMatch hgnc.symbol:IL27RA semapv:UnspecifiedMatching OMIM:605350 IL27RA skos:exactMatch ncbigene:9466 semapv:UnspecifiedMatching -OMIM:605351 FGL2 skos:exactMatch hgnc:FGL2 semapv:UnspecifiedMatching +OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:3696 semapv:UnspecifiedMatching +OMIM:605351 FGL2 skos:exactMatch hgnc.symbol:FGL2 semapv:UnspecifiedMatching OMIM:605351 FGL2 skos:exactMatch ncbigene:10875 semapv:UnspecifiedMatching -OMIM:605352 MFHAS1 skos:exactMatch hgnc:MFHAS1 semapv:UnspecifiedMatching +OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:16982 semapv:UnspecifiedMatching +OMIM:605352 MFHAS1 skos:exactMatch hgnc.symbol:MFHAS1 semapv:UnspecifiedMatching OMIM:605352 MFHAS1 skos:exactMatch ncbigene:9258 semapv:UnspecifiedMatching -OMIM:605353 GHRL skos:exactMatch hgnc:GHRL semapv:UnspecifiedMatching +OMIM:605353 GHRL skos:exactMatch hgnc.symbol:18129 semapv:UnspecifiedMatching +OMIM:605353 GHRL skos:exactMatch hgnc.symbol:GHRL semapv:UnspecifiedMatching OMIM:605353 GHRL skos:exactMatch ncbigene:51738 semapv:UnspecifiedMatching -OMIM:605354 CARD18 skos:exactMatch hgnc:CARD18 semapv:UnspecifiedMatching +OMIM:605354 CARD18 skos:exactMatch hgnc.symbol:28861 semapv:UnspecifiedMatching +OMIM:605354 CARD18 skos:exactMatch hgnc.symbol:CARD18 semapv:UnspecifiedMatching OMIM:605354 CARD18 skos:exactMatch ncbigene:59082 semapv:UnspecifiedMatching +OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch Orphanet:98902 semapv:UnspecifiedMatching OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch UMLS:C1854380 semapv:UnspecifiedMatching -OMIM:605355 nemaline myopathy 5a, autosomal recessive, severe infantile skos:exactMatch orphanet.ordo:98902 semapv:UnspecifiedMatching OMIM:605356 YWHAG skos:exactMatch UMLS:C1421561 semapv:UnspecifiedMatching OMIM:605356 YWHAG skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching -OMIM:605356 YWHAG skos:exactMatch hgnc:YWHAG semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch hgnc.symbol:12852 semapv:UnspecifiedMatching +OMIM:605356 YWHAG skos:exactMatch hgnc.symbol:YWHAG semapv:UnspecifiedMatching OMIM:605356 YWHAG skos:exactMatch ncbigene:7532 semapv:UnspecifiedMatching -OMIM:605357 STON1 skos:exactMatch hgnc:STON1 semapv:UnspecifiedMatching +OMIM:605357 STON1 skos:exactMatch hgnc.symbol:17003 semapv:UnspecifiedMatching +OMIM:605357 STON1 skos:exactMatch hgnc.symbol:STON1 semapv:UnspecifiedMatching OMIM:605357 STON1 skos:exactMatch ncbigene:11037 semapv:UnspecifiedMatching -OMIM:605358 GTF2A1L skos:exactMatch hgnc:GTF2A1L semapv:UnspecifiedMatching +OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:30727 semapv:UnspecifiedMatching +OMIM:605358 GTF2A1L skos:exactMatch hgnc.symbol:GTF2A1L semapv:UnspecifiedMatching OMIM:605358 GTF2A1L skos:exactMatch ncbigene:11036 semapv:UnspecifiedMatching -OMIM:605359 PRR4 skos:exactMatch hgnc:PRR4 semapv:UnspecifiedMatching +OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:18020 semapv:UnspecifiedMatching +OMIM:605359 PRR4 skos:exactMatch hgnc.symbol:PRR4 semapv:UnspecifiedMatching OMIM:605359 PRR4 skos:exactMatch ncbigene:11272 semapv:UnspecifiedMatching -OMIM:605360 CCDC85B skos:exactMatch hgnc:CCDC85B semapv:UnspecifiedMatching +OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:24926 semapv:UnspecifiedMatching +OMIM:605360 CCDC85B skos:exactMatch hgnc.symbol:CCDC85B semapv:UnspecifiedMatching OMIM:605360 CCDC85B skos:exactMatch ncbigene:11007 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch UMLS:C1414925 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch UMLS:C2751938 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching -OMIM:605363 GAD1 skos:exactMatch hgnc:GAD1 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:4092 semapv:UnspecifiedMatching +OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:GAD1 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch ncbigene:2571 semapv:UnspecifiedMatching -OMIM:605366 OLFM1 skos:exactMatch hgnc:OLFM1 semapv:UnspecifiedMatching +OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:17187 semapv:UnspecifiedMatching +OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:OLFM1 semapv:UnspecifiedMatching OMIM:605366 OLFM1 skos:exactMatch ncbigene:10439 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch UMLS:C1422480 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch UMLS:C3539120 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching -OMIM:605367 ELAC2 skos:exactMatch hgnc:ELAC2 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:14198 semapv:UnspecifiedMatching +OMIM:605367 ELAC2 skos:exactMatch hgnc.symbol:ELAC2 semapv:UnspecifiedMatching OMIM:605367 ELAC2 skos:exactMatch ncbigene:60528 semapv:UnspecifiedMatching -OMIM:605368 BNIP3L skos:exactMatch hgnc:BNIP3L semapv:UnspecifiedMatching +OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:1085 semapv:UnspecifiedMatching +OMIM:605368 BNIP3L skos:exactMatch hgnc.symbol:BNIP3L semapv:UnspecifiedMatching OMIM:605368 BNIP3L skos:exactMatch ncbigene:665 semapv:UnspecifiedMatching -OMIM:605369 TMPRSS11D skos:exactMatch hgnc:TMPRSS11D semapv:UnspecifiedMatching +OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:24059 semapv:UnspecifiedMatching +OMIM:605369 TMPRSS11D skos:exactMatch hgnc.symbol:TMPRSS11D semapv:UnspecifiedMatching OMIM:605369 TMPRSS11D skos:exactMatch ncbigene:9407 semapv:UnspecifiedMatching -OMIM:605370 ARHGAP26 skos:exactMatch hgnc:ARHGAP26 semapv:UnspecifiedMatching +OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:17073 semapv:UnspecifiedMatching +OMIM:605370 ARHGAP26 skos:exactMatch hgnc.symbol:ARHGAP26 semapv:UnspecifiedMatching OMIM:605370 ARHGAP26 skos:exactMatch ncbigene:23092 semapv:UnspecifiedMatching -OMIM:605371 ARFGEF2 skos:exactMatch hgnc:ARFGEF2 semapv:UnspecifiedMatching +OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:15853 semapv:UnspecifiedMatching +OMIM:605371 ARFGEF2 skos:exactMatch hgnc.symbol:ARFGEF2 semapv:UnspecifiedMatching OMIM:605371 ARFGEF2 skos:exactMatch ncbigene:10564 semapv:UnspecifiedMatching -OMIM:605372 HNRNPA3 skos:exactMatch hgnc:HNRNPA3 semapv:UnspecifiedMatching +OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:24941 semapv:UnspecifiedMatching +OMIM:605372 HNRNPA3 skos:exactMatch hgnc.symbol:HNRNPA3 semapv:UnspecifiedMatching OMIM:605372 HNRNPA3 skos:exactMatch ncbigene:220988 semapv:UnspecifiedMatching -OMIM:605374 MYCNOS skos:exactMatch hgnc:MYCNOS semapv:UnspecifiedMatching +OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:16911 semapv:UnspecifiedMatching +OMIM:605374 MYCNOS skos:exactMatch hgnc.symbol:MYCNOS semapv:UnspecifiedMatching OMIM:605374 MYCNOS skos:exactMatch ncbigene:10408 semapv:UnspecifiedMatching -OMIM:605377 DMPK skos:exactMatch hgnc:DMPK semapv:UnspecifiedMatching +OMIM:605377 DMPK skos:exactMatch hgnc.symbol:2933 semapv:UnspecifiedMatching +OMIM:605377 DMPK skos:exactMatch hgnc.symbol:DMPK semapv:UnspecifiedMatching OMIM:605377 DMPK skos:exactMatch ncbigene:1760 semapv:UnspecifiedMatching -OMIM:605378 AAAS skos:exactMatch hgnc:AAAS semapv:UnspecifiedMatching +OMIM:605378 AAAS skos:exactMatch hgnc.symbol:13666 semapv:UnspecifiedMatching +OMIM:605378 AAAS skos:exactMatch hgnc.symbol:AAAS semapv:UnspecifiedMatching OMIM:605378 AAAS skos:exactMatch ncbigene:8086 semapv:UnspecifiedMatching OMIM:605379 GAN skos:exactMatch UMLS:C1414964 semapv:UnspecifiedMatching OMIM:605379 GAN skos:exactMatch UMLS:C1850386 semapv:UnspecifiedMatching -OMIM:605379 GAN skos:exactMatch hgnc:GAN semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch hgnc.symbol:4137 semapv:UnspecifiedMatching +OMIM:605379 GAN skos:exactMatch hgnc.symbol:GAN semapv:UnspecifiedMatching OMIM:605379 GAN skos:exactMatch ncbigene:8139 semapv:UnspecifiedMatching -OMIM:605380 FGF23 skos:exactMatch hgnc:FGF23 semapv:UnspecifiedMatching +OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:3680 semapv:UnspecifiedMatching +OMIM:605380 FGF23 skos:exactMatch hgnc.symbol:FGF23 semapv:UnspecifiedMatching OMIM:605380 FGF23 skos:exactMatch ncbigene:8074 semapv:UnspecifiedMatching -OMIM:605381 RHCG skos:exactMatch hgnc:RHCG semapv:UnspecifiedMatching +OMIM:605381 RHCG skos:exactMatch hgnc.symbol:18140 semapv:UnspecifiedMatching +OMIM:605381 RHCG skos:exactMatch hgnc.symbol:RHCG semapv:UnspecifiedMatching OMIM:605381 RHCG skos:exactMatch ncbigene:51458 semapv:UnspecifiedMatching -OMIM:605383 IL21R skos:exactMatch hgnc:IL21R semapv:UnspecifiedMatching +OMIM:605383 IL21R skos:exactMatch hgnc.symbol:6006 semapv:UnspecifiedMatching +OMIM:605383 IL21R skos:exactMatch hgnc.symbol:IL21R semapv:UnspecifiedMatching OMIM:605383 IL21R skos:exactMatch ncbigene:50615 semapv:UnspecifiedMatching -OMIM:605384 IL21 skos:exactMatch hgnc:IL21 semapv:UnspecifiedMatching +OMIM:605384 IL21 skos:exactMatch hgnc.symbol:6005 semapv:UnspecifiedMatching +OMIM:605384 IL21 skos:exactMatch hgnc.symbol:IL21 semapv:UnspecifiedMatching OMIM:605384 IL21 skos:exactMatch ncbigene:59067 semapv:UnspecifiedMatching -OMIM:605385 RCE1 skos:exactMatch hgnc:RCE1 semapv:UnspecifiedMatching +OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:13721 semapv:UnspecifiedMatching +OMIM:605385 RCE1 skos:exactMatch hgnc.symbol:RCE1 semapv:UnspecifiedMatching OMIM:605385 RCE1 skos:exactMatch ncbigene:9986 semapv:UnspecifiedMatching -OMIM:605386 MIRLET7A1 skos:exactMatch hgnc:MIRLET7A1 semapv:UnspecifiedMatching +OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:31476 semapv:UnspecifiedMatching +OMIM:605386 MIRLET7A1 skos:exactMatch hgnc.symbol:MIRLET7A1 semapv:UnspecifiedMatching OMIM:605386 MIRLET7A1 skos:exactMatch ncbigene:406881 semapv:UnspecifiedMatching +OMIM:605387 cataract 31, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:605387 cataract 31, multiple types skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching -OMIM:605387 cataract 31, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching +OMIM:605389 hypotrichosis 1 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C1854310 semapv:UnspecifiedMatching OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C4551976 semapv:UnspecifiedMatching -OMIM:605389 hypotrichosis 1 skos:exactMatch orphanet.ordo:55654 semapv:UnspecifiedMatching -OMIM:605390 LPXN skos:exactMatch hgnc:LPXN semapv:UnspecifiedMatching +OMIM:605390 LPXN skos:exactMatch hgnc.symbol:14061 semapv:UnspecifiedMatching +OMIM:605390 LPXN skos:exactMatch hgnc.symbol:LPXN semapv:UnspecifiedMatching OMIM:605390 LPXN skos:exactMatch ncbigene:9404 semapv:UnspecifiedMatching -OMIM:605391 MINPP1 skos:exactMatch hgnc:MINPP1 semapv:UnspecifiedMatching +OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:7102 semapv:UnspecifiedMatching +OMIM:605391 MINPP1 skos:exactMatch hgnc.symbol:MINPP1 semapv:UnspecifiedMatching OMIM:605391 MINPP1 skos:exactMatch ncbigene:9562 semapv:UnspecifiedMatching -OMIM:605392 FGFR1OP skos:exactMatch hgnc:CEP43 semapv:UnspecifiedMatching +OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:17012 semapv:UnspecifiedMatching +OMIM:605392 FGFR1OP skos:exactMatch hgnc.symbol:CEP43 semapv:UnspecifiedMatching OMIM:605392 FGFR1OP skos:exactMatch ncbigene:11116 semapv:UnspecifiedMatching -OMIM:605393 KDM5B skos:exactMatch hgnc:KDM5B semapv:UnspecifiedMatching +OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:18039 semapv:UnspecifiedMatching +OMIM:605393 KDM5B skos:exactMatch hgnc.symbol:KDM5B semapv:UnspecifiedMatching OMIM:605393 KDM5B skos:exactMatch ncbigene:10765 semapv:UnspecifiedMatching -OMIM:605394 BACH2 skos:exactMatch hgnc:BACH2 semapv:UnspecifiedMatching +OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:14078 semapv:UnspecifiedMatching +OMIM:605394 BACH2 skos:exactMatch hgnc.symbol:BACH2 semapv:UnspecifiedMatching OMIM:605394 BACH2 skos:exactMatch ncbigene:60468 semapv:UnspecifiedMatching -OMIM:605395 TMED1 skos:exactMatch hgnc:TMED1 semapv:UnspecifiedMatching +OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:17291 semapv:UnspecifiedMatching +OMIM:605395 TMED1 skos:exactMatch hgnc.symbol:TMED1 semapv:UnspecifiedMatching OMIM:605395 TMED1 skos:exactMatch ncbigene:11018 semapv:UnspecifiedMatching -OMIM:605397 CD226 skos:exactMatch hgnc:CD226 semapv:UnspecifiedMatching +OMIM:605397 CD226 skos:exactMatch hgnc.symbol:16961 semapv:UnspecifiedMatching +OMIM:605397 CD226 skos:exactMatch hgnc.symbol:CD226 semapv:UnspecifiedMatching OMIM:605397 CD226 skos:exactMatch ncbigene:10666 semapv:UnspecifiedMatching -OMIM:605398 CXCL16 skos:exactMatch hgnc:CXCL16 semapv:UnspecifiedMatching +OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:16642 semapv:UnspecifiedMatching +OMIM:605398 CXCL16 skos:exactMatch hgnc.symbol:CXCL16 semapv:UnspecifiedMatching OMIM:605398 CXCL16 skos:exactMatch ncbigene:58191 semapv:UnspecifiedMatching -OMIM:605399 NID2 skos:exactMatch hgnc:NID2 semapv:UnspecifiedMatching +OMIM:605399 NID2 skos:exactMatch hgnc.symbol:13389 semapv:UnspecifiedMatching +OMIM:605399 NID2 skos:exactMatch hgnc.symbol:NID2 semapv:UnspecifiedMatching OMIM:605399 NID2 skos:exactMatch ncbigene:22795 semapv:UnspecifiedMatching -OMIM:605401 IQGAP2 skos:exactMatch hgnc:IQGAP2 semapv:UnspecifiedMatching +OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:6111 semapv:UnspecifiedMatching +OMIM:605401 IQGAP2 skos:exactMatch hgnc.symbol:IQGAP2 semapv:UnspecifiedMatching OMIM:605401 IQGAP2 skos:exactMatch ncbigene:10788 semapv:UnspecifiedMatching OMIM:605402 CD274 skos:exactMatch UMLS:C1540292 semapv:UnspecifiedMatching -OMIM:605402 CD274 skos:exactMatch hgnc:CD274 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch hgnc.symbol:17635 semapv:UnspecifiedMatching +OMIM:605402 CD274 skos:exactMatch hgnc.symbol:CD274 semapv:UnspecifiedMatching OMIM:605402 CD274 skos:exactMatch ncbigene:29126 semapv:UnspecifiedMatching -OMIM:605403 TLR6 skos:exactMatch hgnc:TLR6 semapv:UnspecifiedMatching +OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:16711 semapv:UnspecifiedMatching +OMIM:605403 TLR6 skos:exactMatch hgnc.symbol:TLR6 semapv:UnspecifiedMatching OMIM:605403 TLR6 skos:exactMatch ncbigene:10333 semapv:UnspecifiedMatching -OMIM:605404 BOK skos:exactMatch hgnc:BOK semapv:UnspecifiedMatching +OMIM:605404 BOK skos:exactMatch hgnc.symbol:1087 semapv:UnspecifiedMatching +OMIM:605404 BOK skos:exactMatch hgnc.symbol:BOK semapv:UnspecifiedMatching OMIM:605404 BOK skos:exactMatch ncbigene:666 semapv:UnspecifiedMatching -OMIM:605405 USP6NL skos:exactMatch hgnc:USP6NL semapv:UnspecifiedMatching +OMIM:605405 USP6NL skos:exactMatch hgnc.symbol:16858 semapv:UnspecifiedMatching +OMIM:605405 USP6NL skos:exactMatch hgnc.symbol:USP6NL semapv:UnspecifiedMatching OMIM:605405 USP6NL skos:exactMatch ncbigene:9712 semapv:UnspecifiedMatching -OMIM:605406 TMED10 skos:exactMatch hgnc:TMED10 semapv:UnspecifiedMatching +OMIM:605406 TMED10 skos:exactMatch hgnc.symbol:16998 semapv:UnspecifiedMatching +OMIM:605406 TMED10 skos:exactMatch hgnc.symbol:TMED10 semapv:UnspecifiedMatching OMIM:605406 TMED10 skos:exactMatch ncbigene:10972 semapv:UnspecifiedMatching -OMIM:605409 TCERG1 skos:exactMatch hgnc:TCERG1 semapv:UnspecifiedMatching +OMIM:605409 TCERG1 skos:exactMatch hgnc.symbol:15630 semapv:UnspecifiedMatching +OMIM:605409 TCERG1 skos:exactMatch hgnc.symbol:TCERG1 semapv:UnspecifiedMatching OMIM:605409 TCERG1 skos:exactMatch ncbigene:10915 semapv:UnspecifiedMatching OMIM:605410 KCND2 skos:exactMatch UMLS:C1416561 semapv:UnspecifiedMatching OMIM:605410 KCND2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605410 KCND2 skos:exactMatch hgnc:KCND2 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch hgnc.symbol:6238 semapv:UnspecifiedMatching +OMIM:605410 KCND2 skos:exactMatch hgnc.symbol:KCND2 semapv:UnspecifiedMatching OMIM:605410 KCND2 skos:exactMatch ncbigene:3751 semapv:UnspecifiedMatching -OMIM:605411 KCND3 skos:exactMatch hgnc:KCND3 semapv:UnspecifiedMatching +OMIM:605411 KCND3 skos:exactMatch hgnc.symbol:6239 semapv:UnspecifiedMatching +OMIM:605411 KCND3 skos:exactMatch hgnc.symbol:KCND3 semapv:UnspecifiedMatching OMIM:605411 KCND3 skos:exactMatch ncbigene:3752 semapv:UnspecifiedMatching -OMIM:605412 RABL2A skos:exactMatch hgnc:RABL2A semapv:UnspecifiedMatching +OMIM:605412 RABL2A skos:exactMatch hgnc.symbol:9799 semapv:UnspecifiedMatching +OMIM:605412 RABL2A skos:exactMatch hgnc.symbol:RABL2A semapv:UnspecifiedMatching OMIM:605412 RABL2A skos:exactMatch ncbigene:11159 semapv:UnspecifiedMatching -OMIM:605413 RABL2B skos:exactMatch hgnc:RABL2B semapv:UnspecifiedMatching +OMIM:605413 RABL2B skos:exactMatch hgnc.symbol:9800 semapv:UnspecifiedMatching +OMIM:605413 RABL2B skos:exactMatch hgnc.symbol:RABL2B semapv:UnspecifiedMatching OMIM:605413 RABL2B skos:exactMatch ncbigene:11158 semapv:UnspecifiedMatching -OMIM:605414 ABCA7 skos:exactMatch hgnc:ABCA7 semapv:UnspecifiedMatching +OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:37 semapv:UnspecifiedMatching +OMIM:605414 ABCA7 skos:exactMatch hgnc.symbol:ABCA7 semapv:UnspecifiedMatching OMIM:605414 ABCA7 skos:exactMatch ncbigene:10347 semapv:UnspecifiedMatching OMIM:605415 DKK2 skos:exactMatch UMLS:C1414058 semapv:UnspecifiedMatching -OMIM:605415 DKK2 skos:exactMatch hgnc:DKK2 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:2892 semapv:UnspecifiedMatching +OMIM:605415 DKK2 skos:exactMatch hgnc.symbol:DKK2 semapv:UnspecifiedMatching OMIM:605415 DKK2 skos:exactMatch ncbigene:27123 semapv:UnspecifiedMatching OMIM:605416 DKK3 skos:exactMatch UMLS:C1414059 semapv:UnspecifiedMatching -OMIM:605416 DKK3 skos:exactMatch hgnc:DKK3 semapv:UnspecifiedMatching +OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:2893 semapv:UnspecifiedMatching +OMIM:605416 DKK3 skos:exactMatch hgnc.symbol:DKK3 semapv:UnspecifiedMatching OMIM:605416 DKK3 skos:exactMatch ncbigene:27122 semapv:UnspecifiedMatching OMIM:605417 DKK4 skos:exactMatch UMLS:C1414060 semapv:UnspecifiedMatching -OMIM:605417 DKK4 skos:exactMatch hgnc:DKK4 semapv:UnspecifiedMatching +OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:2894 semapv:UnspecifiedMatching +OMIM:605417 DKK4 skos:exactMatch hgnc.symbol:DKK4 semapv:UnspecifiedMatching OMIM:605417 DKK4 skos:exactMatch ncbigene:27121 semapv:UnspecifiedMatching -OMIM:605418 DKKL1 skos:exactMatch hgnc:DKKL1 semapv:UnspecifiedMatching +OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:16528 semapv:UnspecifiedMatching +OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:DKKL1 semapv:UnspecifiedMatching OMIM:605418 DKKL1 skos:exactMatch ncbigene:27120 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C1412373 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C3809819 semapv:UnspecifiedMatching -OMIM:605420 ALX4 skos:exactMatch hgnc:ALX4 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:450 semapv:UnspecifiedMatching +OMIM:605420 ALX4 skos:exactMatch hgnc.symbol:ALX4 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch ncbigene:60529 semapv:UnspecifiedMatching -OMIM:605421 ADAMTS9 skos:exactMatch hgnc:ADAMTS9 semapv:UnspecifiedMatching +OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:13202 semapv:UnspecifiedMatching +OMIM:605421 ADAMTS9 skos:exactMatch hgnc.symbol:ADAMTS9 semapv:UnspecifiedMatching OMIM:605421 ADAMTS9 skos:exactMatch ncbigene:56999 semapv:UnspecifiedMatching -OMIM:605422 ZNF350 skos:exactMatch hgnc:ZNF350 semapv:UnspecifiedMatching +OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:16656 semapv:UnspecifiedMatching +OMIM:605422 ZNF350 skos:exactMatch hgnc.symbol:ZNF350 semapv:UnspecifiedMatching OMIM:605422 ZNF350 skos:exactMatch ncbigene:59348 semapv:UnspecifiedMatching OMIM:605423 DHH skos:exactMatch UMLS:C1414044 semapv:UnspecifiedMatching OMIM:605423 DHH skos:exactMatch UMLS:C1856273 semapv:UnspecifiedMatching OMIM:605423 DHH skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching -OMIM:605423 DHH skos:exactMatch hgnc:DHH semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch hgnc.symbol:2865 semapv:UnspecifiedMatching +OMIM:605423 DHH skos:exactMatch hgnc.symbol:DHH semapv:UnspecifiedMatching OMIM:605423 DHH skos:exactMatch ncbigene:50846 semapv:UnspecifiedMatching -OMIM:605424 MAML1 skos:exactMatch hgnc:MAML1 semapv:UnspecifiedMatching +OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:13632 semapv:UnspecifiedMatching +OMIM:605424 MAML1 skos:exactMatch hgnc.symbol:MAML1 semapv:UnspecifiedMatching OMIM:605424 MAML1 skos:exactMatch ncbigene:9794 semapv:UnspecifiedMatching -OMIM:605425 GJB4 skos:exactMatch hgnc:GJB4 semapv:UnspecifiedMatching +OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:4286 semapv:UnspecifiedMatching +OMIM:605425 GJB4 skos:exactMatch hgnc.symbol:GJB4 semapv:UnspecifiedMatching OMIM:605425 GJB4 skos:exactMatch ncbigene:127534 semapv:UnspecifiedMatching -OMIM:605426 TP53AIP1 skos:exactMatch hgnc:TP53AIP1 semapv:UnspecifiedMatching +OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:29984 semapv:UnspecifiedMatching +OMIM:605426 TP53AIP1 skos:exactMatch hgnc.symbol:TP53AIP1 semapv:UnspecifiedMatching OMIM:605426 TP53AIP1 skos:exactMatch ncbigene:63970 semapv:UnspecifiedMatching -OMIM:605427 TRPV4 skos:exactMatch hgnc:TRPV4 semapv:UnspecifiedMatching +OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:18083 semapv:UnspecifiedMatching +OMIM:605427 TRPV4 skos:exactMatch hgnc.symbol:TRPV4 semapv:UnspecifiedMatching OMIM:605427 TRPV4 skos:exactMatch ncbigene:59341 semapv:UnspecifiedMatching -OMIM:605430 SPAG9 skos:exactMatch hgnc:SPAG9 semapv:UnspecifiedMatching +OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:14524 semapv:UnspecifiedMatching +OMIM:605430 SPAG9 skos:exactMatch hgnc.symbol:SPAG9 semapv:UnspecifiedMatching OMIM:605430 SPAG9 skos:exactMatch ncbigene:9043 semapv:UnspecifiedMatching -OMIM:605431 MAPK8IP3 skos:exactMatch hgnc:MAPK8IP3 semapv:UnspecifiedMatching +OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:6884 semapv:UnspecifiedMatching +OMIM:605431 MAPK8IP3 skos:exactMatch hgnc.symbol:MAPK8IP3 semapv:UnspecifiedMatching OMIM:605431 MAPK8IP3 skos:exactMatch ncbigene:23162 semapv:UnspecifiedMatching -OMIM:605433 KIF13A skos:exactMatch hgnc:KIF13A semapv:UnspecifiedMatching +OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:14566 semapv:UnspecifiedMatching +OMIM:605433 KIF13A skos:exactMatch hgnc.symbol:KIF13A semapv:UnspecifiedMatching OMIM:605433 KIF13A skos:exactMatch ncbigene:63971 semapv:UnspecifiedMatching OMIM:605434 CLSPN skos:exactMatch UMLS:C1426354 semapv:UnspecifiedMatching -OMIM:605434 CLSPN skos:exactMatch hgnc:CLSPN semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:19715 semapv:UnspecifiedMatching +OMIM:605434 CLSPN skos:exactMatch hgnc.symbol:CLSPN semapv:UnspecifiedMatching OMIM:605434 CLSPN skos:exactMatch ncbigene:63967 semapv:UnspecifiedMatching -OMIM:605435 PRKD1 skos:exactMatch hgnc:PRKD1 semapv:UnspecifiedMatching +OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:9407 semapv:UnspecifiedMatching +OMIM:605435 PRKD1 skos:exactMatch hgnc.symbol:PRKD1 semapv:UnspecifiedMatching OMIM:605435 PRKD1 skos:exactMatch ncbigene:5587 semapv:UnspecifiedMatching -OMIM:605436 SNORD116-1 skos:exactMatch hgnc:SNORD116-1 semapv:UnspecifiedMatching +OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:33067 semapv:UnspecifiedMatching +OMIM:605436 SNORD116-1 skos:exactMatch hgnc.symbol:SNORD116-1 semapv:UnspecifiedMatching OMIM:605436 SNORD116-1 skos:exactMatch ncbigene:100033413 semapv:UnspecifiedMatching -OMIM:605437 PRKCH skos:exactMatch hgnc:PRKCH semapv:UnspecifiedMatching +OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:9403 semapv:UnspecifiedMatching +OMIM:605437 PRKCH skos:exactMatch hgnc.symbol:PRKCH semapv:UnspecifiedMatching OMIM:605437 PRKCH skos:exactMatch ncbigene:5583 semapv:UnspecifiedMatching -OMIM:605438 DLGAP2 skos:exactMatch hgnc:DLGAP2 semapv:UnspecifiedMatching +OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:2906 semapv:UnspecifiedMatching +OMIM:605438 DLGAP2 skos:exactMatch hgnc.symbol:DLGAP2 semapv:UnspecifiedMatching OMIM:605438 DLGAP2 skos:exactMatch ncbigene:9228 semapv:UnspecifiedMatching -OMIM:605439 EHF skos:exactMatch hgnc:EHF semapv:UnspecifiedMatching +OMIM:605439 EHF skos:exactMatch hgnc.symbol:3246 semapv:UnspecifiedMatching +OMIM:605439 EHF skos:exactMatch hgnc.symbol:EHF semapv:UnspecifiedMatching OMIM:605439 EHF skos:exactMatch ncbigene:26298 semapv:UnspecifiedMatching -OMIM:605440 UBQLN4 skos:exactMatch hgnc:UBQLN4 semapv:UnspecifiedMatching +OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:1237 semapv:UnspecifiedMatching +OMIM:605440 UBQLN4 skos:exactMatch hgnc.symbol:UBQLN4 semapv:UnspecifiedMatching OMIM:605440 UBQLN4 skos:exactMatch ncbigene:56893 semapv:UnspecifiedMatching -OMIM:605441 ADIPOQ skos:exactMatch hgnc:ADIPOQ semapv:UnspecifiedMatching +OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:13633 semapv:UnspecifiedMatching +OMIM:605441 ADIPOQ skos:exactMatch hgnc.symbol:ADIPOQ semapv:UnspecifiedMatching OMIM:605441 ADIPOQ skos:exactMatch ncbigene:9370 semapv:UnspecifiedMatching -OMIM:605442 WTAP skos:exactMatch hgnc:WTAP semapv:UnspecifiedMatching +OMIM:605442 WTAP skos:exactMatch hgnc.symbol:16846 semapv:UnspecifiedMatching +OMIM:605442 WTAP skos:exactMatch hgnc.symbol:WTAP semapv:UnspecifiedMatching OMIM:605442 WTAP skos:exactMatch ncbigene:9589 semapv:UnspecifiedMatching -OMIM:605443 PCGEM1 skos:exactMatch hgnc:PCGEM1 semapv:UnspecifiedMatching +OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:30145 semapv:UnspecifiedMatching +OMIM:605443 PCGEM1 skos:exactMatch hgnc.symbol:PCGEM1 semapv:UnspecifiedMatching OMIM:605443 PCGEM1 skos:exactMatch ncbigene:64002 semapv:UnspecifiedMatching -OMIM:605444 RBMXL2 skos:exactMatch hgnc:RBMXL2 semapv:UnspecifiedMatching +OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:17886 semapv:UnspecifiedMatching +OMIM:605444 RBMXL2 skos:exactMatch hgnc.symbol:RBMXL2 semapv:UnspecifiedMatching OMIM:605444 RBMXL2 skos:exactMatch ncbigene:27288 semapv:UnspecifiedMatching -OMIM:605445 DLGAP1 skos:exactMatch hgnc:DLGAP1 semapv:UnspecifiedMatching +OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:2905 semapv:UnspecifiedMatching +OMIM:605445 DLGAP1 skos:exactMatch hgnc.symbol:DLGAP1 semapv:UnspecifiedMatching OMIM:605445 DLGAP1 skos:exactMatch ncbigene:9229 semapv:UnspecifiedMatching -OMIM:605446 RPGRIP1 skos:exactMatch hgnc:RPGRIP1 semapv:UnspecifiedMatching +OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:13436 semapv:UnspecifiedMatching +OMIM:605446 RPGRIP1 skos:exactMatch hgnc.symbol:RPGRIP1 semapv:UnspecifiedMatching OMIM:605446 RPGRIP1 skos:exactMatch ncbigene:57096 semapv:UnspecifiedMatching -OMIM:605447 SNHG32 skos:exactMatch hgnc:SNHG32 semapv:UnspecifiedMatching +OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:19078 semapv:UnspecifiedMatching +OMIM:605447 SNHG32 skos:exactMatch hgnc.symbol:SNHG32 semapv:UnspecifiedMatching OMIM:605447 SNHG32 skos:exactMatch ncbigene:50854 semapv:UnspecifiedMatching -OMIM:605448 RUNDC3A skos:exactMatch hgnc:RUNDC3A semapv:UnspecifiedMatching +OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:16984 semapv:UnspecifiedMatching +OMIM:605448 RUNDC3A skos:exactMatch hgnc.symbol:RUNDC3A semapv:UnspecifiedMatching OMIM:605448 RUNDC3A skos:exactMatch ncbigene:10900 semapv:UnspecifiedMatching -OMIM:605449 GSTA3 skos:exactMatch hgnc:GSTA3 semapv:UnspecifiedMatching +OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:4628 semapv:UnspecifiedMatching +OMIM:605449 GSTA3 skos:exactMatch hgnc.symbol:GSTA3 semapv:UnspecifiedMatching OMIM:605449 GSTA3 skos:exactMatch ncbigene:2940 semapv:UnspecifiedMatching -OMIM:605450 GSTA4 skos:exactMatch hgnc:GSTA4 semapv:UnspecifiedMatching +OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:4629 semapv:UnspecifiedMatching +OMIM:605450 GSTA4 skos:exactMatch hgnc.symbol:GSTA4 semapv:UnspecifiedMatching OMIM:605450 GSTA4 skos:exactMatch ncbigene:2941 semapv:UnspecifiedMatching -OMIM:605451 PAK4 skos:exactMatch hgnc:PAK4 semapv:UnspecifiedMatching +OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:16059 semapv:UnspecifiedMatching +OMIM:605451 PAK4 skos:exactMatch hgnc.symbol:PAK4 semapv:UnspecifiedMatching OMIM:605451 PAK4 skos:exactMatch ncbigene:10298 semapv:UnspecifiedMatching -OMIM:605452 ABCB6 skos:exactMatch hgnc:ABCB6 semapv:UnspecifiedMatching +OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:47 semapv:UnspecifiedMatching +OMIM:605452 ABCB6 skos:exactMatch hgnc.symbol:ABCB6 semapv:UnspecifiedMatching OMIM:605452 ABCB6 skos:exactMatch ncbigene:10058 semapv:UnspecifiedMatching OMIM:605453 ABCB9 skos:exactMatch UMLS:C1412075 semapv:UnspecifiedMatching -OMIM:605453 ABCB9 skos:exactMatch hgnc:ABCB9 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:50 semapv:UnspecifiedMatching +OMIM:605453 ABCB9 skos:exactMatch hgnc.symbol:ABCB9 semapv:UnspecifiedMatching OMIM:605453 ABCB9 skos:exactMatch ncbigene:23457 semapv:UnspecifiedMatching -OMIM:605454 ABCB10 skos:exactMatch hgnc:ABCB10 semapv:UnspecifiedMatching +OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:41 semapv:UnspecifiedMatching +OMIM:605454 ABCB10 skos:exactMatch hgnc.symbol:ABCB10 semapv:UnspecifiedMatching OMIM:605454 ABCB10 skos:exactMatch ncbigene:23456 semapv:UnspecifiedMatching -OMIM:605455 RAB26 skos:exactMatch hgnc:RAB26 semapv:UnspecifiedMatching +OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:14259 semapv:UnspecifiedMatching +OMIM:605455 RAB26 skos:exactMatch hgnc.symbol:RAB26 semapv:UnspecifiedMatching OMIM:605455 RAB26 skos:exactMatch ncbigene:25837 semapv:UnspecifiedMatching -OMIM:605456 BET1 skos:exactMatch hgnc:BET1 semapv:UnspecifiedMatching +OMIM:605456 BET1 skos:exactMatch hgnc.symbol:14562 semapv:UnspecifiedMatching +OMIM:605456 BET1 skos:exactMatch hgnc.symbol:BET1 semapv:UnspecifiedMatching OMIM:605456 BET1 skos:exactMatch ncbigene:10282 semapv:UnspecifiedMatching -OMIM:605457 IL22RA1 skos:exactMatch hgnc:IL22RA1 semapv:UnspecifiedMatching +OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:13700 semapv:UnspecifiedMatching +OMIM:605457 IL22RA1 skos:exactMatch hgnc.symbol:IL22RA1 semapv:UnspecifiedMatching OMIM:605457 IL22RA1 skos:exactMatch ncbigene:58985 semapv:UnspecifiedMatching -OMIM:605458 IL17RB skos:exactMatch hgnc:IL17RB semapv:UnspecifiedMatching +OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:18015 semapv:UnspecifiedMatching +OMIM:605458 IL17RB skos:exactMatch hgnc.symbol:IL17RB semapv:UnspecifiedMatching OMIM:605458 IL17RB skos:exactMatch ncbigene:55540 semapv:UnspecifiedMatching OMIM:605459 ABCG5 skos:exactMatch UMLS:C1422255 semapv:UnspecifiedMatching OMIM:605459 ABCG5 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching -OMIM:605459 ABCG5 skos:exactMatch hgnc:ABCG5 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:13886 semapv:UnspecifiedMatching +OMIM:605459 ABCG5 skos:exactMatch hgnc.symbol:ABCG5 semapv:UnspecifiedMatching OMIM:605459 ABCG5 skos:exactMatch ncbigene:64240 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch UMLS:C1422256 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch UMLS:C1969115 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch UMLS:C5231390 semapv:UnspecifiedMatching -OMIM:605460 ABCG8 skos:exactMatch hgnc:ABCG8 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:13887 semapv:UnspecifiedMatching +OMIM:605460 ABCG8 skos:exactMatch hgnc.symbol:ABCG8 semapv:UnspecifiedMatching OMIM:605460 ABCG8 skos:exactMatch ncbigene:64241 semapv:UnspecifiedMatching -OMIM:605461 IL17RA skos:exactMatch hgnc:IL17RA semapv:UnspecifiedMatching +OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:5985 semapv:UnspecifiedMatching +OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:IL17RA semapv:UnspecifiedMatching OMIM:605461 IL17RA skos:exactMatch ncbigene:23765 semapv:UnspecifiedMatching -OMIM:605464 ABCB8 skos:exactMatch hgnc:ABCB8 semapv:UnspecifiedMatching +OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:49 semapv:UnspecifiedMatching +OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:ABCB8 semapv:UnspecifiedMatching OMIM:605464 ABCB8 skos:exactMatch ncbigene:11194 semapv:UnspecifiedMatching -OMIM:605465 ZNF277 skos:exactMatch hgnc:ZNF277 semapv:UnspecifiedMatching +OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:13070 semapv:UnspecifiedMatching +OMIM:605465 ZNF277 skos:exactMatch hgnc.symbol:ZNF277 semapv:UnspecifiedMatching OMIM:605465 ZNF277 skos:exactMatch ncbigene:11179 semapv:UnspecifiedMatching -OMIM:605466 SIRPG skos:exactMatch hgnc:SIRPG semapv:UnspecifiedMatching +OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:15757 semapv:UnspecifiedMatching +OMIM:605466 SIRPG skos:exactMatch hgnc.symbol:SIRPG semapv:UnspecifiedMatching OMIM:605466 SIRPG skos:exactMatch ncbigene:55423 semapv:UnspecifiedMatching -OMIM:605467 ZNF274 skos:exactMatch hgnc:ZNF274 semapv:UnspecifiedMatching +OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:13068 semapv:UnspecifiedMatching +OMIM:605467 ZNF274 skos:exactMatch hgnc.symbol:ZNF274 semapv:UnspecifiedMatching OMIM:605467 ZNF274 skos:exactMatch ncbigene:10782 semapv:UnspecifiedMatching -OMIM:605468 CDC42EP4 skos:exactMatch hgnc:CDC42EP4 semapv:UnspecifiedMatching +OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:17147 semapv:UnspecifiedMatching +OMIM:605468 CDC42EP4 skos:exactMatch hgnc.symbol:CDC42EP4 semapv:UnspecifiedMatching OMIM:605468 CDC42EP4 skos:exactMatch ncbigene:23580 semapv:UnspecifiedMatching -OMIM:605469 KDM4C skos:exactMatch hgnc:KDM4C semapv:UnspecifiedMatching +OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:17071 semapv:UnspecifiedMatching +OMIM:605469 KDM4C skos:exactMatch hgnc.symbol:KDM4C semapv:UnspecifiedMatching OMIM:605469 KDM4C skos:exactMatch ncbigene:23081 semapv:UnspecifiedMatching -OMIM:605470 MMP26 skos:exactMatch hgnc:MMP26 semapv:UnspecifiedMatching +OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:14249 semapv:UnspecifiedMatching +OMIM:605470 MMP26 skos:exactMatch hgnc.symbol:MMP26 semapv:UnspecifiedMatching OMIM:605470 MMP26 skos:exactMatch ncbigene:56547 semapv:UnspecifiedMatching -OMIM:605471 ZFYVE1 skos:exactMatch hgnc:ZFYVE1 semapv:UnspecifiedMatching +OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:13180 semapv:UnspecifiedMatching +OMIM:605471 ZFYVE1 skos:exactMatch hgnc.symbol:ZFYVE1 semapv:UnspecifiedMatching OMIM:605471 ZFYVE1 skos:exactMatch ncbigene:53349 semapv:UnspecifiedMatching -OMIM:605473 UBQLN3 skos:exactMatch hgnc:UBQLN3 semapv:UnspecifiedMatching +OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:12510 semapv:UnspecifiedMatching +OMIM:605473 UBQLN3 skos:exactMatch hgnc.symbol:UBQLN3 semapv:UnspecifiedMatching OMIM:605473 UBQLN3 skos:exactMatch ncbigene:50613 semapv:UnspecifiedMatching OMIM:605474 TLR9 skos:exactMatch UMLS:C1423633 semapv:UnspecifiedMatching -OMIM:605474 TLR9 skos:exactMatch hgnc:TLR9 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:15633 semapv:UnspecifiedMatching +OMIM:605474 TLR9 skos:exactMatch hgnc.symbol:TLR9 semapv:UnspecifiedMatching OMIM:605474 TLR9 skos:exactMatch ncbigene:54106 semapv:UnspecifiedMatching -OMIM:605475 BAIAP2 skos:exactMatch hgnc:BAIAP2 semapv:UnspecifiedMatching +OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:947 semapv:UnspecifiedMatching +OMIM:605475 BAIAP2 skos:exactMatch hgnc.symbol:BAIAP2 semapv:UnspecifiedMatching OMIM:605475 BAIAP2 skos:exactMatch ncbigene:10458 semapv:UnspecifiedMatching -OMIM:605476 AGAP2 skos:exactMatch hgnc:AGAP2 semapv:UnspecifiedMatching +OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:16921 semapv:UnspecifiedMatching +OMIM:605476 AGAP2 skos:exactMatch hgnc.symbol:AGAP2 semapv:UnspecifiedMatching OMIM:605476 AGAP2 skos:exactMatch ncbigene:116986 semapv:UnspecifiedMatching -OMIM:605477 ARHGEF7 skos:exactMatch hgnc:ARHGEF7 semapv:UnspecifiedMatching +OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:15607 semapv:UnspecifiedMatching +OMIM:605477 ARHGEF7 skos:exactMatch hgnc.symbol:ARHGEF7 semapv:UnspecifiedMatching OMIM:605477 ARHGEF7 skos:exactMatch ncbigene:8874 semapv:UnspecifiedMatching -OMIM:605478 SIGIRR skos:exactMatch hgnc:SIGIRR semapv:UnspecifiedMatching +OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:30575 semapv:UnspecifiedMatching +OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:SIGIRR semapv:UnspecifiedMatching OMIM:605478 SIGIRR skos:exactMatch ncbigene:59307 semapv:UnspecifiedMatching -OMIM:605481 ASPM skos:exactMatch hgnc:ASPM semapv:UnspecifiedMatching +OMIM:605481 ASPM skos:exactMatch hgnc.symbol:19048 semapv:UnspecifiedMatching +OMIM:605481 ASPM skos:exactMatch hgnc.symbol:ASPM semapv:UnspecifiedMatching OMIM:605481 ASPM skos:exactMatch ncbigene:259266 semapv:UnspecifiedMatching -OMIM:605482 GSTO1 skos:exactMatch hgnc:GSTO1 semapv:UnspecifiedMatching +OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:13312 semapv:UnspecifiedMatching +OMIM:605482 GSTO1 skos:exactMatch hgnc.symbol:GSTO1 semapv:UnspecifiedMatching OMIM:605482 GSTO1 skos:exactMatch ncbigene:9446 semapv:UnspecifiedMatching -OMIM:605483 DNAI2 skos:exactMatch hgnc:DNAI2 semapv:UnspecifiedMatching +OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:18744 semapv:UnspecifiedMatching +OMIM:605483 DNAI2 skos:exactMatch hgnc.symbol:DNAI2 semapv:UnspecifiedMatching OMIM:605483 DNAI2 skos:exactMatch ncbigene:64446 semapv:UnspecifiedMatching -OMIM:605484 FCAMR skos:exactMatch hgnc:FCAMR semapv:UnspecifiedMatching +OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:24692 semapv:UnspecifiedMatching +OMIM:605484 FCAMR skos:exactMatch hgnc.symbol:FCAMR semapv:UnspecifiedMatching OMIM:605484 FCAMR skos:exactMatch ncbigene:83953 semapv:UnspecifiedMatching -OMIM:605485 VPS41 skos:exactMatch hgnc:VPS41 semapv:UnspecifiedMatching +OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:12713 semapv:UnspecifiedMatching +OMIM:605485 VPS41 skos:exactMatch hgnc.symbol:VPS41 semapv:UnspecifiedMatching OMIM:605485 VPS41 skos:exactMatch ncbigene:27072 semapv:UnspecifiedMatching -OMIM:605487 ARPP19 skos:exactMatch hgnc:ARPP19 semapv:UnspecifiedMatching +OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:16967 semapv:UnspecifiedMatching +OMIM:605487 ARPP19 skos:exactMatch hgnc.symbol:ARPP19 semapv:UnspecifiedMatching OMIM:605487 ARPP19 skos:exactMatch ncbigene:10776 semapv:UnspecifiedMatching -OMIM:605488 ARPP21 skos:exactMatch hgnc:ARPP21 semapv:UnspecifiedMatching +OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:16968 semapv:UnspecifiedMatching +OMIM:605488 ARPP21 skos:exactMatch hgnc.symbol:ARPP21 semapv:UnspecifiedMatching OMIM:605488 ARPP21 skos:exactMatch ncbigene:10777 semapv:UnspecifiedMatching -OMIM:605489 IFT81 skos:exactMatch hgnc:IFT81 semapv:UnspecifiedMatching +OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:14313 semapv:UnspecifiedMatching +OMIM:605489 IFT81 skos:exactMatch hgnc.symbol:IFT81 semapv:UnspecifiedMatching OMIM:605489 IFT81 skos:exactMatch ncbigene:28981 semapv:UnspecifiedMatching -OMIM:605490 LONP1 skos:exactMatch hgnc:LONP1 semapv:UnspecifiedMatching +OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:9479 semapv:UnspecifiedMatching +OMIM:605490 LONP1 skos:exactMatch hgnc.symbol:LONP1 semapv:UnspecifiedMatching OMIM:605490 LONP1 skos:exactMatch ncbigene:9361 semapv:UnspecifiedMatching -OMIM:605491 NEBL skos:exactMatch hgnc:NEBL semapv:UnspecifiedMatching +OMIM:605491 NEBL skos:exactMatch hgnc.symbol:16932 semapv:UnspecifiedMatching +OMIM:605491 NEBL skos:exactMatch hgnc.symbol:NEBL semapv:UnspecifiedMatching OMIM:605491 NEBL skos:exactMatch ncbigene:10529 semapv:UnspecifiedMatching -OMIM:605492 LRRN2 skos:exactMatch hgnc:LRRN2 semapv:UnspecifiedMatching +OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:16914 semapv:UnspecifiedMatching +OMIM:605492 LRRN2 skos:exactMatch hgnc.symbol:LRRN2 semapv:UnspecifiedMatching OMIM:605492 LRRN2 skos:exactMatch ncbigene:10446 semapv:UnspecifiedMatching -OMIM:605493 TRIM3 skos:exactMatch hgnc:TRIM3 semapv:UnspecifiedMatching +OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:10064 semapv:UnspecifiedMatching +OMIM:605493 TRIM3 skos:exactMatch hgnc.symbol:TRIM3 semapv:UnspecifiedMatching OMIM:605493 TRIM3 skos:exactMatch ncbigene:10612 semapv:UnspecifiedMatching -OMIM:605494 ITGB3BP skos:exactMatch hgnc:ITGB3BP semapv:UnspecifiedMatching +OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:6157 semapv:UnspecifiedMatching +OMIM:605494 ITGB3BP skos:exactMatch hgnc.symbol:ITGB3BP semapv:UnspecifiedMatching OMIM:605494 ITGB3BP skos:exactMatch ncbigene:23421 semapv:UnspecifiedMatching -OMIM:605495 SLCO1B3 skos:exactMatch hgnc:SLCO1B3 semapv:UnspecifiedMatching +OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:10961 semapv:UnspecifiedMatching +OMIM:605495 SLCO1B3 skos:exactMatch hgnc.symbol:SLCO1B3 semapv:UnspecifiedMatching OMIM:605495 SLCO1B3 skos:exactMatch ncbigene:28234 semapv:UnspecifiedMatching -OMIM:605496 CEP1 skos:exactMatch hgnc:CNTRL semapv:UnspecifiedMatching +OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:1858 semapv:UnspecifiedMatching +OMIM:605496 CEP1 skos:exactMatch hgnc.symbol:CNTRL semapv:UnspecifiedMatching OMIM:605496 CEP1 skos:exactMatch ncbigene:11064 semapv:UnspecifiedMatching -OMIM:605497 CRTAP skos:exactMatch hgnc:CRTAP semapv:UnspecifiedMatching +OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:2379 semapv:UnspecifiedMatching +OMIM:605497 CRTAP skos:exactMatch hgnc.symbol:CRTAP semapv:UnspecifiedMatching OMIM:605497 CRTAP skos:exactMatch ncbigene:10491 semapv:UnspecifiedMatching -OMIM:605498 MPHOSPH1 skos:exactMatch hgnc:KIF20B semapv:UnspecifiedMatching +OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:7212 semapv:UnspecifiedMatching +OMIM:605498 MPHOSPH1 skos:exactMatch hgnc.symbol:KIF20B semapv:UnspecifiedMatching OMIM:605498 MPHOSPH1 skos:exactMatch ncbigene:9585 semapv:UnspecifiedMatching OMIM:605499 zw10 interactor, antisense skos:exactMatch UMLS:C1421870 semapv:UnspecifiedMatching -OMIM:605500 MPHOSPH6 skos:exactMatch hgnc:MPHOSPH6 semapv:UnspecifiedMatching +OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:7214 semapv:UnspecifiedMatching +OMIM:605500 MPHOSPH6 skos:exactMatch hgnc.symbol:MPHOSPH6 semapv:UnspecifiedMatching OMIM:605500 MPHOSPH6 skos:exactMatch ncbigene:10200 semapv:UnspecifiedMatching -OMIM:605501 MPHOSPH9 skos:exactMatch hgnc:MPHOSPH9 semapv:UnspecifiedMatching +OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:7215 semapv:UnspecifiedMatching +OMIM:605501 MPHOSPH9 skos:exactMatch hgnc.symbol:MPHOSPH9 semapv:UnspecifiedMatching OMIM:605501 MPHOSPH9 skos:exactMatch ncbigene:10198 semapv:UnspecifiedMatching -OMIM:605502 DNAJC2 skos:exactMatch hgnc:DNAJC2 semapv:UnspecifiedMatching +OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:13192 semapv:UnspecifiedMatching +OMIM:605502 DNAJC2 skos:exactMatch hgnc.symbol:DNAJC2 semapv:UnspecifiedMatching OMIM:605502 DNAJC2 skos:exactMatch ncbigene:27000 semapv:UnspecifiedMatching -OMIM:605503 MPHOSPH10 skos:exactMatch hgnc:MPHOSPH10 semapv:UnspecifiedMatching +OMIM:605503 MPHOSPH10 skos:exactMatch hgnc.symbol:7213 semapv:UnspecifiedMatching +OMIM:605503 MPHOSPH10 skos:exactMatch hgnc.symbol:MPHOSPH10 semapv:UnspecifiedMatching OMIM:605503 MPHOSPH10 skos:exactMatch ncbigene:10199 semapv:UnspecifiedMatching -OMIM:605504 KLK9 skos:exactMatch hgnc:KLK9 semapv:UnspecifiedMatching +OMIM:605504 KLK9 skos:exactMatch hgnc.symbol:6370 semapv:UnspecifiedMatching +OMIM:605504 KLK9 skos:exactMatch hgnc.symbol:KLK9 semapv:UnspecifiedMatching OMIM:605504 KLK9 skos:exactMatch ncbigene:284366 semapv:UnspecifiedMatching -OMIM:605505 KLK13 skos:exactMatch hgnc:KLK13 semapv:UnspecifiedMatching +OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:6361 semapv:UnspecifiedMatching +OMIM:605505 KLK13 skos:exactMatch hgnc.symbol:KLK13 semapv:UnspecifiedMatching OMIM:605505 KLK13 skos:exactMatch ncbigene:26085 semapv:UnspecifiedMatching -OMIM:605506 VPS26A skos:exactMatch hgnc:VPS26A semapv:UnspecifiedMatching +OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:12711 semapv:UnspecifiedMatching +OMIM:605506 VPS26A skos:exactMatch hgnc.symbol:VPS26A semapv:UnspecifiedMatching OMIM:605506 VPS26A skos:exactMatch ncbigene:9559 semapv:UnspecifiedMatching OMIM:605507 IL36RN skos:exactMatch UMLS:C1423573 semapv:UnspecifiedMatching OMIM:605507 IL36RN skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching -OMIM:605507 IL36RN skos:exactMatch hgnc:IL36RN semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:15561 semapv:UnspecifiedMatching +OMIM:605507 IL36RN skos:exactMatch hgnc.symbol:IL36RN semapv:UnspecifiedMatching OMIM:605507 IL36RN skos:exactMatch ncbigene:26525 semapv:UnspecifiedMatching -OMIM:605508 IL36B skos:exactMatch hgnc:IL36B semapv:UnspecifiedMatching +OMIM:605508 IL36B skos:exactMatch hgnc.symbol:15564 semapv:UnspecifiedMatching +OMIM:605508 IL36B skos:exactMatch hgnc.symbol:IL36B semapv:UnspecifiedMatching OMIM:605508 IL36B skos:exactMatch ncbigene:27177 semapv:UnspecifiedMatching -OMIM:605509 IL36A skos:exactMatch hgnc:IL36A semapv:UnspecifiedMatching +OMIM:605509 IL36A skos:exactMatch hgnc.symbol:15562 semapv:UnspecifiedMatching +OMIM:605509 IL36A skos:exactMatch hgnc.symbol:IL36A semapv:UnspecifiedMatching OMIM:605509 IL36A skos:exactMatch ncbigene:27179 semapv:UnspecifiedMatching -OMIM:605510 IL37 skos:exactMatch hgnc:IL37 semapv:UnspecifiedMatching +OMIM:605510 IL37 skos:exactMatch hgnc.symbol:15563 semapv:UnspecifiedMatching +OMIM:605510 IL37 skos:exactMatch hgnc.symbol:IL37 semapv:UnspecifiedMatching OMIM:605510 IL37 skos:exactMatch ncbigene:27178 semapv:UnspecifiedMatching -OMIM:605511 TMPRSS3 skos:exactMatch hgnc:TMPRSS3 semapv:UnspecifiedMatching +OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:11877 semapv:UnspecifiedMatching +OMIM:605511 TMPRSS3 skos:exactMatch hgnc.symbol:TMPRSS3 semapv:UnspecifiedMatching OMIM:605511 TMPRSS3 skos:exactMatch ncbigene:64699 semapv:UnspecifiedMatching -OMIM:605512 ELOVL4 skos:exactMatch hgnc:ELOVL4 semapv:UnspecifiedMatching +OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:14415 semapv:UnspecifiedMatching +OMIM:605512 ELOVL4 skos:exactMatch hgnc.symbol:ELOVL4 semapv:UnspecifiedMatching OMIM:605512 ELOVL4 skos:exactMatch ncbigene:6785 semapv:UnspecifiedMatching -OMIM:605513 MLANA skos:exactMatch hgnc:MLANA semapv:UnspecifiedMatching +OMIM:605513 MLANA skos:exactMatch hgnc.symbol:7124 semapv:UnspecifiedMatching +OMIM:605513 MLANA skos:exactMatch hgnc.symbol:MLANA semapv:UnspecifiedMatching OMIM:605513 MLANA skos:exactMatch ncbigene:2315 semapv:UnspecifiedMatching -OMIM:605514 PCDH15 skos:exactMatch hgnc:PCDH15 semapv:UnspecifiedMatching +OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:14674 semapv:UnspecifiedMatching +OMIM:605514 PCDH15 skos:exactMatch hgnc.symbol:PCDH15 semapv:UnspecifiedMatching OMIM:605514 PCDH15 skos:exactMatch ncbigene:65217 semapv:UnspecifiedMatching -OMIM:605515 FOXP1 skos:exactMatch hgnc:FOXP1 semapv:UnspecifiedMatching +OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:3823 semapv:UnspecifiedMatching +OMIM:605515 FOXP1 skos:exactMatch hgnc.symbol:FOXP1 semapv:UnspecifiedMatching OMIM:605515 FOXP1 skos:exactMatch ncbigene:27086 semapv:UnspecifiedMatching -OMIM:605516 CDH23 skos:exactMatch hgnc:CDH23 semapv:UnspecifiedMatching +OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:13733 semapv:UnspecifiedMatching +OMIM:605516 CDH23 skos:exactMatch hgnc.symbol:CDH23 semapv:UnspecifiedMatching OMIM:605516 CDH23 skos:exactMatch ncbigene:64072 semapv:UnspecifiedMatching OMIM:605517 B4GAT1 skos:exactMatch UMLS:C1423631 semapv:UnspecifiedMatching OMIM:605517 B4GAT1 skos:exactMatch UMLS:C3809042 semapv:UnspecifiedMatching -OMIM:605517 B4GAT1 skos:exactMatch hgnc:B4GAT1 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:15685 semapv:UnspecifiedMatching +OMIM:605517 B4GAT1 skos:exactMatch hgnc.symbol:B4GAT1 semapv:UnspecifiedMatching OMIM:605517 B4GAT1 skos:exactMatch ncbigene:11041 semapv:UnspecifiedMatching -OMIM:605518 LPIN1 skos:exactMatch hgnc:LPIN1 semapv:UnspecifiedMatching +OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:13345 semapv:UnspecifiedMatching +OMIM:605518 LPIN1 skos:exactMatch hgnc.symbol:LPIN1 semapv:UnspecifiedMatching OMIM:605518 LPIN1 skos:exactMatch ncbigene:23175 semapv:UnspecifiedMatching -OMIM:605519 LPIN2 skos:exactMatch hgnc:LPIN2 semapv:UnspecifiedMatching +OMIM:605519 LPIN2 skos:exactMatch hgnc.symbol:14450 semapv:UnspecifiedMatching +OMIM:605519 LPIN2 skos:exactMatch hgnc.symbol:LPIN2 semapv:UnspecifiedMatching OMIM:605519 LPIN2 skos:exactMatch ncbigene:9663 semapv:UnspecifiedMatching -OMIM:605520 LPIN3 skos:exactMatch hgnc:LPIN3 semapv:UnspecifiedMatching +OMIM:605520 LPIN3 skos:exactMatch hgnc.symbol:14451 semapv:UnspecifiedMatching +OMIM:605520 LPIN3 skos:exactMatch hgnc.symbol:LPIN3 semapv:UnspecifiedMatching OMIM:605520 LPIN3 skos:exactMatch ncbigene:64900 semapv:UnspecifiedMatching -OMIM:605521 TBPL1 skos:exactMatch hgnc:TBPL1 semapv:UnspecifiedMatching +OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:11589 semapv:UnspecifiedMatching +OMIM:605521 TBPL1 skos:exactMatch hgnc.symbol:TBPL1 semapv:UnspecifiedMatching OMIM:605521 TBPL1 skos:exactMatch ncbigene:9519 semapv:UnspecifiedMatching -OMIM:605522 LMBR1 skos:exactMatch hgnc:LMBR1 semapv:UnspecifiedMatching +OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:13243 semapv:UnspecifiedMatching +OMIM:605522 LMBR1 skos:exactMatch hgnc.symbol:LMBR1 semapv:UnspecifiedMatching OMIM:605522 LMBR1 skos:exactMatch ncbigene:64327 semapv:UnspecifiedMatching -OMIM:605523 TOB1 skos:exactMatch hgnc:TOB1 semapv:UnspecifiedMatching +OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:11979 semapv:UnspecifiedMatching +OMIM:605523 TOB1 skos:exactMatch hgnc.symbol:TOB1 semapv:UnspecifiedMatching OMIM:605523 TOB1 skos:exactMatch ncbigene:10140 semapv:UnspecifiedMatching -OMIM:605525 CDT1 skos:exactMatch hgnc:CDT1 semapv:UnspecifiedMatching +OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:24576 semapv:UnspecifiedMatching +OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:CDT1 semapv:UnspecifiedMatching OMIM:605525 CDT1 skos:exactMatch ncbigene:81620 semapv:UnspecifiedMatching -OMIM:605527 MAT2B skos:exactMatch hgnc:MAT2B semapv:UnspecifiedMatching +OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:6905 semapv:UnspecifiedMatching +OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:MAT2B semapv:UnspecifiedMatching OMIM:605527 MAT2B skos:exactMatch ncbigene:27430 semapv:UnspecifiedMatching -OMIM:605528 NEU2 skos:exactMatch hgnc:NEU2 semapv:UnspecifiedMatching +OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:7759 semapv:UnspecifiedMatching +OMIM:605528 NEU2 skos:exactMatch hgnc.symbol:NEU2 semapv:UnspecifiedMatching OMIM:605528 NEU2 skos:exactMatch ncbigene:4759 semapv:UnspecifiedMatching OMIM:605529 UPF2 skos:exactMatch UMLS:C1425133 semapv:UnspecifiedMatching -OMIM:605529 UPF2 skos:exactMatch hgnc:UPF2 semapv:UnspecifiedMatching +OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:17854 semapv:UnspecifiedMatching +OMIM:605529 UPF2 skos:exactMatch hgnc.symbol:UPF2 semapv:UnspecifiedMatching OMIM:605529 UPF2 skos:exactMatch ncbigene:26019 semapv:UnspecifiedMatching OMIM:605530 UPF3A skos:exactMatch UMLS:C1426867 semapv:UnspecifiedMatching -OMIM:605530 UPF3A skos:exactMatch hgnc:UPF3A semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:20332 semapv:UnspecifiedMatching +OMIM:605530 UPF3A skos:exactMatch hgnc.symbol:UPF3A semapv:UnspecifiedMatching OMIM:605530 UPF3A skos:exactMatch ncbigene:65110 semapv:UnspecifiedMatching -OMIM:605532 SMURF2 skos:exactMatch hgnc:SMURF2 semapv:UnspecifiedMatching +OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:16809 semapv:UnspecifiedMatching +OMIM:605532 SMURF2 skos:exactMatch hgnc.symbol:SMURF2 semapv:UnspecifiedMatching OMIM:605532 SMURF2 skos:exactMatch ncbigene:64750 semapv:UnspecifiedMatching -OMIM:605533 NRG3 skos:exactMatch hgnc:NRG3 semapv:UnspecifiedMatching +OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:7999 semapv:UnspecifiedMatching +OMIM:605533 NRG3 skos:exactMatch hgnc.symbol:NRG3 semapv:UnspecifiedMatching OMIM:605533 NRG3 skos:exactMatch ncbigene:10718 semapv:UnspecifiedMatching -OMIM:605534 HMG20A skos:exactMatch hgnc:HMG20A semapv:UnspecifiedMatching +OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:5001 semapv:UnspecifiedMatching +OMIM:605534 HMG20A skos:exactMatch hgnc.symbol:HMG20A semapv:UnspecifiedMatching OMIM:605534 HMG20A skos:exactMatch ncbigene:10363 semapv:UnspecifiedMatching -OMIM:605535 HMG20B skos:exactMatch hgnc:HMG20B semapv:UnspecifiedMatching +OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:5002 semapv:UnspecifiedMatching +OMIM:605535 HMG20B skos:exactMatch hgnc.symbol:HMG20B semapv:UnspecifiedMatching OMIM:605535 HMG20B skos:exactMatch ncbigene:10362 semapv:UnspecifiedMatching -OMIM:605536 RAB11FIP5 skos:exactMatch hgnc:RAB11FIP5 semapv:UnspecifiedMatching +OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:24845 semapv:UnspecifiedMatching +OMIM:605536 RAB11FIP5 skos:exactMatch hgnc.symbol:RAB11FIP5 semapv:UnspecifiedMatching OMIM:605536 RAB11FIP5 skos:exactMatch ncbigene:26056 semapv:UnspecifiedMatching -OMIM:605537 ATF6 skos:exactMatch hgnc:ATF6 semapv:UnspecifiedMatching +OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:791 semapv:UnspecifiedMatching +OMIM:605537 ATF6 skos:exactMatch hgnc.symbol:ATF6 semapv:UnspecifiedMatching OMIM:605537 ATF6 skos:exactMatch ncbigene:22926 semapv:UnspecifiedMatching -OMIM:605538 NTSR2 skos:exactMatch hgnc:NTSR2 semapv:UnspecifiedMatching +OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:8040 semapv:UnspecifiedMatching +OMIM:605538 NTSR2 skos:exactMatch hgnc.symbol:NTSR2 semapv:UnspecifiedMatching OMIM:605538 NTSR2 skos:exactMatch ncbigene:23620 semapv:UnspecifiedMatching -OMIM:605539 KLK12 skos:exactMatch hgnc:KLK12 semapv:UnspecifiedMatching +OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:6360 semapv:UnspecifiedMatching +OMIM:605539 KLK12 skos:exactMatch hgnc.symbol:KLK12 semapv:UnspecifiedMatching OMIM:605539 KLK12 skos:exactMatch ncbigene:43849 semapv:UnspecifiedMatching -OMIM:605540 TENT4B skos:exactMatch hgnc:TENT4B semapv:UnspecifiedMatching +OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:30758 semapv:UnspecifiedMatching +OMIM:605540 TENT4B skos:exactMatch hgnc.symbol:TENT4B semapv:UnspecifiedMatching OMIM:605540 TENT4B skos:exactMatch ncbigene:64282 semapv:UnspecifiedMatching -OMIM:605541 VAV3 skos:exactMatch hgnc:VAV3 semapv:UnspecifiedMatching +OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:12659 semapv:UnspecifiedMatching +OMIM:605541 VAV3 skos:exactMatch hgnc.symbol:VAV3 semapv:UnspecifiedMatching OMIM:605541 VAV3 skos:exactMatch ncbigene:10451 semapv:UnspecifiedMatching -OMIM:605542 IL36G skos:exactMatch hgnc:IL36G semapv:UnspecifiedMatching +OMIM:605542 IL36G skos:exactMatch hgnc.symbol:15741 semapv:UnspecifiedMatching +OMIM:605542 IL36G skos:exactMatch hgnc.symbol:IL36G semapv:UnspecifiedMatching OMIM:605542 IL36G skos:exactMatch ncbigene:56300 semapv:UnspecifiedMatching -OMIM:605545 CD163 skos:exactMatch hgnc:CD163 semapv:UnspecifiedMatching +OMIM:605545 CD163 skos:exactMatch hgnc.symbol:1631 semapv:UnspecifiedMatching +OMIM:605545 CD163 skos:exactMatch hgnc.symbol:CD163 semapv:UnspecifiedMatching OMIM:605545 CD163 skos:exactMatch ncbigene:9332 semapv:UnspecifiedMatching -OMIM:605546 GP6 skos:exactMatch hgnc:GP6 semapv:UnspecifiedMatching +OMIM:605546 GP6 skos:exactMatch hgnc.symbol:14388 semapv:UnspecifiedMatching +OMIM:605546 GP6 skos:exactMatch hgnc.symbol:GP6 semapv:UnspecifiedMatching OMIM:605546 GP6 skos:exactMatch ncbigene:51206 semapv:UnspecifiedMatching -OMIM:605547 FSTL1 skos:exactMatch hgnc:FSTL1 semapv:UnspecifiedMatching +OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:3972 semapv:UnspecifiedMatching +OMIM:605547 FSTL1 skos:exactMatch hgnc.symbol:FSTL1 semapv:UnspecifiedMatching OMIM:605547 FSTL1 skos:exactMatch ncbigene:11167 semapv:UnspecifiedMatching -OMIM:605548 ADAM15 skos:exactMatch hgnc:ADAM15 semapv:UnspecifiedMatching +OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:193 semapv:UnspecifiedMatching +OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:ADAM15 semapv:UnspecifiedMatching OMIM:605548 ADAM15 skos:exactMatch ncbigene:8751 semapv:UnspecifiedMatching -OMIM:605550 RASD1 skos:exactMatch hgnc:RASD1 semapv:UnspecifiedMatching +OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:15828 semapv:UnspecifiedMatching +OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:RASD1 semapv:UnspecifiedMatching OMIM:605550 RASD1 skos:exactMatch ncbigene:51655 semapv:UnspecifiedMatching -OMIM:605551 NOS1AP skos:exactMatch hgnc:NOS1AP semapv:UnspecifiedMatching +OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:16859 semapv:UnspecifiedMatching +OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:NOS1AP semapv:UnspecifiedMatching OMIM:605551 NOS1AP skos:exactMatch ncbigene:9722 semapv:UnspecifiedMatching -OMIM:605553 PAPOLA skos:exactMatch hgnc:PAPOLA semapv:UnspecifiedMatching +OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:14981 semapv:UnspecifiedMatching +OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:PAPOLA semapv:UnspecifiedMatching OMIM:605553 PAPOLA skos:exactMatch ncbigene:10914 semapv:UnspecifiedMatching -OMIM:605554 CD244 skos:exactMatch hgnc:CD244 semapv:UnspecifiedMatching +OMIM:605554 CD244 skos:exactMatch hgnc.symbol:18171 semapv:UnspecifiedMatching +OMIM:605554 CD244 skos:exactMatch hgnc.symbol:CD244 semapv:UnspecifiedMatching OMIM:605554 CD244 skos:exactMatch ncbigene:51744 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C1412302 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C1863340 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C4538355 semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch UMLS:C4540568 semapv:UnspecifiedMatching -OMIM:605555 AIP skos:exactMatch hgnc:AIP semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch hgnc.symbol:358 semapv:UnspecifiedMatching +OMIM:605555 AIP skos:exactMatch hgnc.symbol:AIP semapv:UnspecifiedMatching OMIM:605555 AIP skos:exactMatch ncbigene:9049 semapv:UnspecifiedMatching -OMIM:605556 SLC4A10 skos:exactMatch hgnc:SLC4A10 semapv:UnspecifiedMatching +OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:13811 semapv:UnspecifiedMatching +OMIM:605556 SLC4A10 skos:exactMatch hgnc.symbol:SLC4A10 semapv:UnspecifiedMatching OMIM:605556 SLC4A10 skos:exactMatch ncbigene:57282 semapv:UnspecifiedMatching -OMIM:605557 PRDM16 skos:exactMatch hgnc:PRDM16 semapv:UnspecifiedMatching +OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:14000 semapv:UnspecifiedMatching +OMIM:605557 PRDM16 skos:exactMatch hgnc.symbol:PRDM16 semapv:UnspecifiedMatching OMIM:605557 PRDM16 skos:exactMatch ncbigene:63976 semapv:UnspecifiedMatching -OMIM:605558 FGF20 skos:exactMatch hgnc:FGF20 semapv:UnspecifiedMatching +OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:3677 semapv:UnspecifiedMatching +OMIM:605558 FGF20 skos:exactMatch hgnc.symbol:FGF20 semapv:UnspecifiedMatching OMIM:605558 FGF20 skos:exactMatch ncbigene:26281 semapv:UnspecifiedMatching -OMIM:605559 HOXC11 skos:exactMatch hgnc:HOXC11 semapv:UnspecifiedMatching +OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:5123 semapv:UnspecifiedMatching +OMIM:605559 HOXC11 skos:exactMatch hgnc.symbol:HOXC11 semapv:UnspecifiedMatching OMIM:605559 HOXC11 skos:exactMatch ncbigene:3227 semapv:UnspecifiedMatching -OMIM:605560 HOXC10 skos:exactMatch hgnc:HOXC10 semapv:UnspecifiedMatching +OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:5122 semapv:UnspecifiedMatching +OMIM:605560 HOXC10 skos:exactMatch hgnc.symbol:HOXC10 semapv:UnspecifiedMatching OMIM:605560 HOXC10 skos:exactMatch ncbigene:3226 semapv:UnspecifiedMatching -OMIM:605561 PKP3 skos:exactMatch hgnc:PKP3 semapv:UnspecifiedMatching +OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:9025 semapv:UnspecifiedMatching +OMIM:605561 PKP3 skos:exactMatch hgnc.symbol:PKP3 semapv:UnspecifiedMatching OMIM:605561 PKP3 skos:exactMatch ncbigene:11187 semapv:UnspecifiedMatching -OMIM:605562 SCGB2A2 skos:exactMatch hgnc:SCGB2A2 semapv:UnspecifiedMatching +OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:7050 semapv:UnspecifiedMatching +OMIM:605562 SCGB2A2 skos:exactMatch hgnc.symbol:SCGB2A2 semapv:UnspecifiedMatching OMIM:605562 SCGB2A2 skos:exactMatch ncbigene:4250 semapv:UnspecifiedMatching -OMIM:605563 CABP1 skos:exactMatch hgnc:CABP1 semapv:UnspecifiedMatching +OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:1384 semapv:UnspecifiedMatching +OMIM:605563 CABP1 skos:exactMatch hgnc.symbol:CABP1 semapv:UnspecifiedMatching OMIM:605563 CABP1 skos:exactMatch ncbigene:9478 semapv:UnspecifiedMatching -OMIM:605564 CIB2 skos:exactMatch hgnc:CIB2 semapv:UnspecifiedMatching +OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:24579 semapv:UnspecifiedMatching +OMIM:605564 CIB2 skos:exactMatch hgnc.symbol:CIB2 semapv:UnspecifiedMatching OMIM:605564 CIB2 skos:exactMatch ncbigene:10518 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch UMLS:C1426906 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch UMLS:C1854174 semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:605565 RETN skos:exactMatch hgnc:RETN semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch hgnc.symbol:20389 semapv:UnspecifiedMatching +OMIM:605565 RETN skos:exactMatch hgnc.symbol:RETN semapv:UnspecifiedMatching OMIM:605565 RETN skos:exactMatch ncbigene:56729 semapv:UnspecifiedMatching -OMIM:605566 RTN4R skos:exactMatch hgnc:RTN4R semapv:UnspecifiedMatching +OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:18601 semapv:UnspecifiedMatching +OMIM:605566 RTN4R skos:exactMatch hgnc.symbol:RTN4R semapv:UnspecifiedMatching OMIM:605566 RTN4R skos:exactMatch ncbigene:65078 semapv:UnspecifiedMatching -OMIM:605567 SIVA1 skos:exactMatch hgnc:SIVA1 semapv:UnspecifiedMatching +OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:17712 semapv:UnspecifiedMatching +OMIM:605567 SIVA1 skos:exactMatch hgnc.symbol:SIVA1 semapv:UnspecifiedMatching OMIM:605567 SIVA1 skos:exactMatch ncbigene:10572 semapv:UnspecifiedMatching -OMIM:605568 SMURF1 skos:exactMatch hgnc:SMURF1 semapv:UnspecifiedMatching +OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:16807 semapv:UnspecifiedMatching +OMIM:605568 SMURF1 skos:exactMatch hgnc.symbol:SMURF1 semapv:UnspecifiedMatching OMIM:605568 SMURF1 skos:exactMatch ncbigene:57154 semapv:UnspecifiedMatching -OMIM:605569 GPR83 skos:exactMatch hgnc:GPR83 semapv:UnspecifiedMatching +OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:4523 semapv:UnspecifiedMatching +OMIM:605569 GPR83 skos:exactMatch hgnc.symbol:GPR83 semapv:UnspecifiedMatching OMIM:605569 GPR83 skos:exactMatch ncbigene:10888 semapv:UnspecifiedMatching -OMIM:605570 RAB11A skos:exactMatch hgnc:RAB11A semapv:UnspecifiedMatching +OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:9760 semapv:UnspecifiedMatching +OMIM:605570 RAB11A skos:exactMatch hgnc.symbol:RAB11A semapv:UnspecifiedMatching OMIM:605570 RAB11A skos:exactMatch ncbigene:8766 semapv:UnspecifiedMatching -OMIM:605571 PIWIL1 skos:exactMatch hgnc:PIWIL1 semapv:UnspecifiedMatching +OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:9007 semapv:UnspecifiedMatching +OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:PIWIL1 semapv:UnspecifiedMatching OMIM:605571 PIWIL1 skos:exactMatch ncbigene:9271 semapv:UnspecifiedMatching -OMIM:605573 HSD17B3 skos:exactMatch hgnc:HSD17B3 semapv:UnspecifiedMatching +OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:5212 semapv:UnspecifiedMatching +OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:HSD17B3 semapv:UnspecifiedMatching OMIM:605573 HSD17B3 skos:exactMatch ncbigene:3293 semapv:UnspecifiedMatching -OMIM:605574 UBE2C skos:exactMatch hgnc:UBE2C semapv:UnspecifiedMatching +OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:15937 semapv:UnspecifiedMatching +OMIM:605574 UBE2C skos:exactMatch hgnc.symbol:UBE2C semapv:UnspecifiedMatching OMIM:605574 UBE2C skos:exactMatch ncbigene:11065 semapv:UnspecifiedMatching -OMIM:605575 SMC4 skos:exactMatch hgnc:SMC4 semapv:UnspecifiedMatching +OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:14013 semapv:UnspecifiedMatching +OMIM:605575 SMC4 skos:exactMatch hgnc.symbol:SMC4 semapv:UnspecifiedMatching OMIM:605575 SMC4 skos:exactMatch ncbigene:10051 semapv:UnspecifiedMatching -OMIM:605576 SMC2 skos:exactMatch hgnc:SMC2 semapv:UnspecifiedMatching +OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:14011 semapv:UnspecifiedMatching +OMIM:605576 SMC2 skos:exactMatch hgnc.symbol:SMC2 semapv:UnspecifiedMatching OMIM:605576 SMC2 skos:exactMatch ncbigene:10592 semapv:UnspecifiedMatching -OMIM:605577 RASGRP2 skos:exactMatch hgnc:RASGRP2 semapv:UnspecifiedMatching +OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:9879 semapv:UnspecifiedMatching +OMIM:605577 RASGRP2 skos:exactMatch hgnc.symbol:RASGRP2 semapv:UnspecifiedMatching OMIM:605577 RASGRP2 skos:exactMatch ncbigene:10235 semapv:UnspecifiedMatching -OMIM:605578 IFITM2 skos:exactMatch hgnc:IFITM2 semapv:UnspecifiedMatching +OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:5413 semapv:UnspecifiedMatching +OMIM:605578 IFITM2 skos:exactMatch hgnc.symbol:IFITM2 semapv:UnspecifiedMatching OMIM:605578 IFITM2 skos:exactMatch ncbigene:10581 semapv:UnspecifiedMatching -OMIM:605579 IFITM3 skos:exactMatch hgnc:IFITM3 semapv:UnspecifiedMatching +OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:5414 semapv:UnspecifiedMatching +OMIM:605579 IFITM3 skos:exactMatch hgnc.symbol:IFITM3 semapv:UnspecifiedMatching OMIM:605579 IFITM3 skos:exactMatch ncbigene:10410 semapv:UnspecifiedMatching -OMIM:605580 IL23A skos:exactMatch hgnc:IL23A semapv:UnspecifiedMatching +OMIM:605580 IL23A skos:exactMatch hgnc.symbol:15488 semapv:UnspecifiedMatching +OMIM:605580 IL23A skos:exactMatch hgnc.symbol:IL23A semapv:UnspecifiedMatching OMIM:605580 IL23A skos:exactMatch ncbigene:51561 semapv:UnspecifiedMatching -OMIM:605581 B3GNT2 skos:exactMatch hgnc:B3GNT2 semapv:UnspecifiedMatching +OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:15629 semapv:UnspecifiedMatching +OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:B3GNT2 semapv:UnspecifiedMatching OMIM:605581 B3GNT2 skos:exactMatch ncbigene:10678 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch UMLS:C1424825 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching -OMIM:605584 DHX38 skos:exactMatch hgnc:DHX38 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:17211 semapv:UnspecifiedMatching +OMIM:605584 DHX38 skos:exactMatch hgnc.symbol:DHX38 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch ncbigene:9785 semapv:UnspecifiedMatching -OMIM:605585 CDC40 skos:exactMatch hgnc:CDC40 semapv:UnspecifiedMatching +OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:17350 semapv:UnspecifiedMatching +OMIM:605585 CDC40 skos:exactMatch hgnc.symbol:CDC40 semapv:UnspecifiedMatching OMIM:605585 CDC40 skos:exactMatch ncbigene:51362 semapv:UnspecifiedMatching -OMIM:605586 IPO7 skos:exactMatch hgnc:IPO7 semapv:UnspecifiedMatching +OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:9852 semapv:UnspecifiedMatching +OMIM:605586 IPO7 skos:exactMatch hgnc.symbol:IPO7 semapv:UnspecifiedMatching OMIM:605586 IPO7 skos:exactMatch ncbigene:10527 semapv:UnspecifiedMatching -OMIM:605587 PI14 skos:exactMatch hgnc:SERPINI2 semapv:UnspecifiedMatching +OMIM:605587 PI14 skos:exactMatch hgnc.symbol:8945 semapv:UnspecifiedMatching +OMIM:605587 PI14 skos:exactMatch hgnc.symbol:SERPINI2 semapv:UnspecifiedMatching OMIM:605587 PI14 skos:exactMatch ncbigene:5276 semapv:UnspecifiedMatching +OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch Orphanet:101101 semapv:UnspecifiedMatching OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching -OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 skos:exactMatch orphanet.ordo:101101 semapv:UnspecifiedMatching OMIM:605590 SF3B1 skos:exactMatch UMLS:C1419980 semapv:UnspecifiedMatching -OMIM:605590 SF3B1 skos:exactMatch hgnc:SF3B1 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:10768 semapv:UnspecifiedMatching +OMIM:605590 SF3B1 skos:exactMatch hgnc.symbol:SF3B1 semapv:UnspecifiedMatching OMIM:605590 SF3B1 skos:exactMatch ncbigene:23451 semapv:UnspecifiedMatching -OMIM:605591 SF3B2 skos:exactMatch hgnc:SF3B2 semapv:UnspecifiedMatching +OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:10769 semapv:UnspecifiedMatching +OMIM:605591 SF3B2 skos:exactMatch hgnc.symbol:SF3B2 semapv:UnspecifiedMatching OMIM:605591 SF3B2 skos:exactMatch ncbigene:10992 semapv:UnspecifiedMatching -OMIM:605592 SF3B3 skos:exactMatch hgnc:SF3B3 semapv:UnspecifiedMatching +OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:10770 semapv:UnspecifiedMatching +OMIM:605592 SF3B3 skos:exactMatch hgnc.symbol:SF3B3 semapv:UnspecifiedMatching OMIM:605592 SF3B3 skos:exactMatch ncbigene:23450 semapv:UnspecifiedMatching -OMIM:605593 SF3B4 skos:exactMatch hgnc:SF3B4 semapv:UnspecifiedMatching +OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:10771 semapv:UnspecifiedMatching +OMIM:605593 SF3B4 skos:exactMatch hgnc.symbol:SF3B4 semapv:UnspecifiedMatching OMIM:605593 SF3B4 skos:exactMatch ncbigene:10262 semapv:UnspecifiedMatching -OMIM:605595 SF3A1 skos:exactMatch hgnc:SF3A1 semapv:UnspecifiedMatching +OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:10765 semapv:UnspecifiedMatching +OMIM:605595 SF3A1 skos:exactMatch hgnc.symbol:SF3A1 semapv:UnspecifiedMatching OMIM:605595 SF3A1 skos:exactMatch ncbigene:10291 semapv:UnspecifiedMatching -OMIM:605596 SF3A3 skos:exactMatch hgnc:SF3A3 semapv:UnspecifiedMatching +OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:10767 semapv:UnspecifiedMatching +OMIM:605596 SF3A3 skos:exactMatch hgnc.symbol:SF3A3 semapv:UnspecifiedMatching OMIM:605596 SF3A3 skos:exactMatch ncbigene:10946 semapv:UnspecifiedMatching -OMIM:605597 FOXL2 skos:exactMatch hgnc:FOXL2 semapv:UnspecifiedMatching +OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:1092 semapv:UnspecifiedMatching +OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:FOXL2 semapv:UnspecifiedMatching OMIM:605597 FOXL2 skos:exactMatch ncbigene:668 semapv:UnspecifiedMatching OMIM:605598 iia 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching -OMIM:605599 LYPLA1 skos:exactMatch hgnc:LYPLA1 semapv:UnspecifiedMatching +OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:6737 semapv:UnspecifiedMatching +OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:LYPLA1 semapv:UnspecifiedMatching OMIM:605599 LYPLA1 skos:exactMatch ncbigene:10434 semapv:UnspecifiedMatching -OMIM:605600 IPO8 skos:exactMatch hgnc:IPO8 semapv:UnspecifiedMatching +OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:9853 semapv:UnspecifiedMatching +OMIM:605600 IPO8 skos:exactMatch hgnc.symbol:IPO8 semapv:UnspecifiedMatching OMIM:605600 IPO8 skos:exactMatch ncbigene:10526 semapv:UnspecifiedMatching -OMIM:605601 PRG2 skos:exactMatch hgnc:PRG2 semapv:UnspecifiedMatching +OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:9362 semapv:UnspecifiedMatching +OMIM:605601 PRG2 skos:exactMatch hgnc.symbol:PRG2 semapv:UnspecifiedMatching OMIM:605601 PRG2 skos:exactMatch ncbigene:5553 semapv:UnspecifiedMatching -OMIM:605602 MYOZ2 skos:exactMatch hgnc:MYOZ2 semapv:UnspecifiedMatching +OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:1330 semapv:UnspecifiedMatching +OMIM:605602 MYOZ2 skos:exactMatch hgnc.symbol:MYOZ2 semapv:UnspecifiedMatching OMIM:605602 MYOZ2 skos:exactMatch ncbigene:51778 semapv:UnspecifiedMatching -OMIM:605603 MYOZ1 skos:exactMatch hgnc:MYOZ1 semapv:UnspecifiedMatching +OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:13752 semapv:UnspecifiedMatching +OMIM:605603 MYOZ1 skos:exactMatch hgnc.symbol:MYOZ1 semapv:UnspecifiedMatching OMIM:605603 MYOZ1 skos:exactMatch ncbigene:58529 semapv:UnspecifiedMatching -OMIM:605604 PAIP2 skos:exactMatch hgnc:PAIP2 semapv:UnspecifiedMatching +OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:17970 semapv:UnspecifiedMatching +OMIM:605604 PAIP2 skos:exactMatch hgnc.symbol:PAIP2 semapv:UnspecifiedMatching OMIM:605604 PAIP2 skos:exactMatch ncbigene:51247 semapv:UnspecifiedMatching -OMIM:605607 CENPH skos:exactMatch hgnc:CENPH semapv:UnspecifiedMatching +OMIM:605607 CENPH skos:exactMatch hgnc.symbol:17268 semapv:UnspecifiedMatching +OMIM:605607 CENPH skos:exactMatch hgnc.symbol:CENPH semapv:UnspecifiedMatching OMIM:605607 CENPH skos:exactMatch ncbigene:64946 semapv:UnspecifiedMatching -OMIM:605608 CLDN14 skos:exactMatch hgnc:CLDN14 semapv:UnspecifiedMatching +OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:2035 semapv:UnspecifiedMatching +OMIM:605608 CLDN14 skos:exactMatch hgnc.symbol:CLDN14 semapv:UnspecifiedMatching OMIM:605608 CLDN14 skos:exactMatch ncbigene:23562 semapv:UnspecifiedMatching OMIM:605609 OXR1 skos:exactMatch UMLS:C1423755 semapv:UnspecifiedMatching OMIM:605609 OXR1 skos:exactMatch UMLS:C5231391 semapv:UnspecifiedMatching -OMIM:605609 OXR1 skos:exactMatch hgnc:OXR1 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:15822 semapv:UnspecifiedMatching +OMIM:605609 OXR1 skos:exactMatch hgnc.symbol:OXR1 semapv:UnspecifiedMatching OMIM:605609 OXR1 skos:exactMatch ncbigene:55074 semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch UMLS:C1418707 semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch UMLS:C1854150 semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching -OMIM:605610 PNKP skos:exactMatch hgnc:PNKP semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch hgnc.symbol:9154 semapv:UnspecifiedMatching +OMIM:605610 PNKP skos:exactMatch hgnc.symbol:PNKP semapv:UnspecifiedMatching OMIM:605610 PNKP skos:exactMatch ncbigene:11284 semapv:UnspecifiedMatching -OMIM:605611 SH3BP4 skos:exactMatch hgnc:SH3BP4 semapv:UnspecifiedMatching +OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:10826 semapv:UnspecifiedMatching +OMIM:605611 SH3BP4 skos:exactMatch hgnc.symbol:SH3BP4 semapv:UnspecifiedMatching OMIM:605611 SH3BP4 skos:exactMatch ncbigene:23677 semapv:UnspecifiedMatching -OMIM:605612 SH3BP5 skos:exactMatch hgnc:SH3BP5 semapv:UnspecifiedMatching +OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:10827 semapv:UnspecifiedMatching +OMIM:605612 SH3BP5 skos:exactMatch hgnc.symbol:SH3BP5 semapv:UnspecifiedMatching OMIM:605612 SH3BP5 skos:exactMatch ncbigene:9467 semapv:UnspecifiedMatching -OMIM:605613 HIP1R skos:exactMatch hgnc:HIP1R semapv:UnspecifiedMatching +OMIM:605613 HIP1R skos:exactMatch hgnc.symbol:18415 semapv:UnspecifiedMatching +OMIM:605613 HIP1R skos:exactMatch hgnc.symbol:HIP1R semapv:UnspecifiedMatching OMIM:605613 HIP1R skos:exactMatch ncbigene:9026 semapv:UnspecifiedMatching OMIM:605614 GCN1 skos:exactMatch UMLS:C1415018 semapv:UnspecifiedMatching -OMIM:605614 GCN1 skos:exactMatch hgnc:GCN1 semapv:UnspecifiedMatching +OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:4199 semapv:UnspecifiedMatching +OMIM:605614 GCN1 skos:exactMatch hgnc.symbol:GCN1 semapv:UnspecifiedMatching OMIM:605614 GCN1 skos:exactMatch ncbigene:10985 semapv:UnspecifiedMatching OMIM:605615 ARIH2 skos:exactMatch UMLS:C1412534 semapv:UnspecifiedMatching -OMIM:605615 ARIH2 skos:exactMatch hgnc:ARIH2 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:690 semapv:UnspecifiedMatching +OMIM:605615 ARIH2 skos:exactMatch hgnc.symbol:ARIH2 semapv:UnspecifiedMatching OMIM:605615 ARIH2 skos:exactMatch ncbigene:10425 semapv:UnspecifiedMatching -OMIM:605616 SLC6A20 skos:exactMatch hgnc:SLC6A20 semapv:UnspecifiedMatching +OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:30927 semapv:UnspecifiedMatching +OMIM:605616 SLC6A20 skos:exactMatch hgnc.symbol:SLC6A20 semapv:UnspecifiedMatching OMIM:605616 SLC6A20 skos:exactMatch ncbigene:54716 semapv:UnspecifiedMatching -OMIM:605619 IL20 skos:exactMatch hgnc:IL20 semapv:UnspecifiedMatching +OMIM:605619 IL20 skos:exactMatch hgnc.symbol:6002 semapv:UnspecifiedMatching +OMIM:605619 IL20 skos:exactMatch hgnc.symbol:IL20 semapv:UnspecifiedMatching OMIM:605619 IL20 skos:exactMatch ncbigene:50604 semapv:UnspecifiedMatching -OMIM:605620 IL20RA skos:exactMatch hgnc:IL20RA semapv:UnspecifiedMatching +OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:6003 semapv:UnspecifiedMatching +OMIM:605620 IL20RA skos:exactMatch hgnc.symbol:IL20RA semapv:UnspecifiedMatching OMIM:605620 IL20RA skos:exactMatch ncbigene:53832 semapv:UnspecifiedMatching -OMIM:605621 IL20RB skos:exactMatch hgnc:IL20RB semapv:UnspecifiedMatching +OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:6004 semapv:UnspecifiedMatching +OMIM:605621 IL20RB skos:exactMatch hgnc.symbol:IL20RB semapv:UnspecifiedMatching OMIM:605621 IL20RB skos:exactMatch ncbigene:53833 semapv:UnspecifiedMatching -OMIM:605622 PCDH12 skos:exactMatch hgnc:PCDH12 semapv:UnspecifiedMatching +OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:8657 semapv:UnspecifiedMatching +OMIM:605622 PCDH12 skos:exactMatch hgnc.symbol:PCDH12 semapv:UnspecifiedMatching OMIM:605622 PCDH12 skos:exactMatch ncbigene:51294 semapv:UnspecifiedMatching -OMIM:605623 MKLN1 skos:exactMatch hgnc:MKLN1 semapv:UnspecifiedMatching +OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:7109 semapv:UnspecifiedMatching +OMIM:605623 MKLN1 skos:exactMatch hgnc.symbol:MKLN1 semapv:UnspecifiedMatching OMIM:605623 MKLN1 skos:exactMatch ncbigene:4289 semapv:UnspecifiedMatching OMIM:605624 ARIH1 skos:exactMatch UMLS:C1412533 semapv:UnspecifiedMatching -OMIM:605624 ARIH1 skos:exactMatch hgnc:ARIH1 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:689 semapv:UnspecifiedMatching +OMIM:605624 ARIH1 skos:exactMatch hgnc.symbol:ARIH1 semapv:UnspecifiedMatching OMIM:605624 ARIH1 skos:exactMatch ncbigene:25820 semapv:UnspecifiedMatching -OMIM:605625 MYEOV skos:exactMatch hgnc:MYEOV semapv:UnspecifiedMatching +OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:7563 semapv:UnspecifiedMatching +OMIM:605625 MYEOV skos:exactMatch hgnc.symbol:MYEOV semapv:UnspecifiedMatching OMIM:605625 MYEOV skos:exactMatch ncbigene:26579 semapv:UnspecifiedMatching -OMIM:605626 ERVK-6 skos:exactMatch hgnc:ERVK-6 semapv:UnspecifiedMatching +OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:13915 semapv:UnspecifiedMatching +OMIM:605626 ERVK-6 skos:exactMatch hgnc.symbol:ERVK-6 semapv:UnspecifiedMatching OMIM:605626 ERVK-6 skos:exactMatch ncbigene:64006 semapv:UnspecifiedMatching -OMIM:605628 HTATIP2 skos:exactMatch hgnc:HTATIP2 semapv:UnspecifiedMatching +OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:16637 semapv:UnspecifiedMatching +OMIM:605628 HTATIP2 skos:exactMatch hgnc.symbol:HTATIP2 semapv:UnspecifiedMatching OMIM:605628 HTATIP2 skos:exactMatch ncbigene:10553 semapv:UnspecifiedMatching -OMIM:605629 CIT skos:exactMatch hgnc:CIT semapv:UnspecifiedMatching +OMIM:605629 CIT skos:exactMatch hgnc.symbol:1985 semapv:UnspecifiedMatching +OMIM:605629 CIT skos:exactMatch hgnc.symbol:CIT semapv:UnspecifiedMatching OMIM:605629 CIT skos:exactMatch ncbigene:11113 semapv:UnspecifiedMatching -OMIM:605630 PLA2G2D skos:exactMatch hgnc:PLA2G2D semapv:UnspecifiedMatching +OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:9033 semapv:UnspecifiedMatching +OMIM:605630 PLA2G2D skos:exactMatch hgnc.symbol:PLA2G2D semapv:UnspecifiedMatching OMIM:605630 PLA2G2D skos:exactMatch ncbigene:26279 semapv:UnspecifiedMatching -OMIM:605631 NAPSA skos:exactMatch hgnc:NAPSA semapv:UnspecifiedMatching +OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:13395 semapv:UnspecifiedMatching +OMIM:605631 NAPSA skos:exactMatch hgnc.symbol:NAPSA semapv:UnspecifiedMatching OMIM:605631 NAPSA skos:exactMatch ncbigene:9476 semapv:UnspecifiedMatching -OMIM:605632 SLC35A3 skos:exactMatch hgnc:SLC35A3 semapv:UnspecifiedMatching +OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:11023 semapv:UnspecifiedMatching +OMIM:605632 SLC35A3 skos:exactMatch hgnc.symbol:SLC35A3 semapv:UnspecifiedMatching OMIM:605632 SLC35A3 skos:exactMatch ncbigene:23443 semapv:UnspecifiedMatching -OMIM:605633 MUC3B skos:exactMatch hgnc:MUC3B semapv:UnspecifiedMatching +OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:13384 semapv:UnspecifiedMatching +OMIM:605633 MUC3B skos:exactMatch hgnc.symbol:MUC3B semapv:UnspecifiedMatching OMIM:605633 MUC3B skos:exactMatch ncbigene:57876 semapv:UnspecifiedMatching -OMIM:605634 SLC35A1 skos:exactMatch hgnc:SLC35A1 semapv:UnspecifiedMatching +OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:11021 semapv:UnspecifiedMatching +OMIM:605634 SLC35A1 skos:exactMatch hgnc.symbol:SLC35A1 semapv:UnspecifiedMatching OMIM:605634 SLC35A1 skos:exactMatch ncbigene:10559 semapv:UnspecifiedMatching -OMIM:605636 MEG3 skos:exactMatch hgnc:MEG3 semapv:UnspecifiedMatching +OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:14575 semapv:UnspecifiedMatching +OMIM:605636 MEG3 skos:exactMatch hgnc.symbol:MEG3 semapv:UnspecifiedMatching OMIM:605636 MEG3 skos:exactMatch ncbigene:55384 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:363677 semapv:UnspecifiedMatching +OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch Orphanet:79091 semapv:UnspecifiedMatching OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch UMLS:C1854106 semapv:UnspecifiedMatching -OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch orphanet.ordo:363677 semapv:UnspecifiedMatching -OMIM:605637 congenital myopathy 6 with ophthalmoplegia skos:exactMatch orphanet.ordo:79091 semapv:UnspecifiedMatching -OMIM:605638 BIRC6 skos:exactMatch hgnc:BIRC6 semapv:UnspecifiedMatching +OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:13516 semapv:UnspecifiedMatching +OMIM:605638 BIRC6 skos:exactMatch hgnc.symbol:BIRC6 semapv:UnspecifiedMatching OMIM:605638 BIRC6 skos:exactMatch ncbigene:57448 semapv:UnspecifiedMatching -OMIM:605639 SIGLEC8 skos:exactMatch hgnc:SIGLEC8 semapv:UnspecifiedMatching +OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:10877 semapv:UnspecifiedMatching +OMIM:605639 SIGLEC8 skos:exactMatch hgnc.symbol:SIGLEC8 semapv:UnspecifiedMatching OMIM:605639 SIGLEC8 skos:exactMatch ncbigene:27181 semapv:UnspecifiedMatching -OMIM:605640 SIGLEC9 skos:exactMatch hgnc:SIGLEC9 semapv:UnspecifiedMatching +OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:10878 semapv:UnspecifiedMatching +OMIM:605640 SIGLEC9 skos:exactMatch hgnc.symbol:SIGLEC9 semapv:UnspecifiedMatching OMIM:605640 SIGLEC9 skos:exactMatch ncbigene:27180 semapv:UnspecifiedMatching -OMIM:605641 SLC7A6 skos:exactMatch hgnc:SLC7A6 semapv:UnspecifiedMatching +OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:11064 semapv:UnspecifiedMatching +OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:SLC7A6 semapv:UnspecifiedMatching OMIM:605641 SLC7A6 skos:exactMatch ncbigene:9057 semapv:UnspecifiedMatching -OMIM:605643 KLK5 skos:exactMatch hgnc:KLK5 semapv:UnspecifiedMatching +OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:6366 semapv:UnspecifiedMatching +OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:KLK5 semapv:UnspecifiedMatching OMIM:605643 KLK5 skos:exactMatch ncbigene:25818 semapv:UnspecifiedMatching -OMIM:605644 KLK8 skos:exactMatch hgnc:KLK8 semapv:UnspecifiedMatching +OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:6369 semapv:UnspecifiedMatching +OMIM:605644 KLK8 skos:exactMatch hgnc.symbol:KLK8 semapv:UnspecifiedMatching OMIM:605644 KLK8 skos:exactMatch ncbigene:11202 semapv:UnspecifiedMatching -OMIM:605645 RETNLB skos:exactMatch hgnc:RETNLB semapv:UnspecifiedMatching +OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:20388 semapv:UnspecifiedMatching +OMIM:605645 RETNLB skos:exactMatch hgnc.symbol:RETNLB semapv:UnspecifiedMatching OMIM:605645 RETNLB skos:exactMatch ncbigene:84666 semapv:UnspecifiedMatching -OMIM:605646 SLC26A4 skos:exactMatch hgnc:SLC26A4 semapv:UnspecifiedMatching +OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:8818 semapv:UnspecifiedMatching +OMIM:605646 SLC26A4 skos:exactMatch hgnc.symbol:SLC26A4 semapv:UnspecifiedMatching OMIM:605646 SLC26A4 skos:exactMatch ncbigene:5172 semapv:UnspecifiedMatching -OMIM:605647 FBXO6 skos:exactMatch hgnc:FBXO6 semapv:UnspecifiedMatching +OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:13585 semapv:UnspecifiedMatching +OMIM:605647 FBXO6 skos:exactMatch hgnc.symbol:FBXO6 semapv:UnspecifiedMatching OMIM:605647 FBXO6 skos:exactMatch ncbigene:26270 semapv:UnspecifiedMatching -OMIM:605648 FBXO7 skos:exactMatch hgnc:FBXO7 semapv:UnspecifiedMatching +OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:13586 semapv:UnspecifiedMatching +OMIM:605648 FBXO7 skos:exactMatch hgnc.symbol:FBXO7 semapv:UnspecifiedMatching OMIM:605648 FBXO7 skos:exactMatch ncbigene:25793 semapv:UnspecifiedMatching -OMIM:605649 FBXO8 skos:exactMatch hgnc:FBXO8 semapv:UnspecifiedMatching +OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:13587 semapv:UnspecifiedMatching +OMIM:605649 FBXO8 skos:exactMatch hgnc.symbol:FBXO8 semapv:UnspecifiedMatching OMIM:605649 FBXO8 skos:exactMatch ncbigene:26269 semapv:UnspecifiedMatching -OMIM:605650 POLK skos:exactMatch hgnc:POLK semapv:UnspecifiedMatching +OMIM:605650 POLK skos:exactMatch hgnc.symbol:9183 semapv:UnspecifiedMatching +OMIM:605650 POLK skos:exactMatch hgnc.symbol:POLK semapv:UnspecifiedMatching OMIM:605650 POLK skos:exactMatch ncbigene:51426 semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch UMLS:C1539505 semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854075 semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch UMLS:C1854076 semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching -OMIM:605651 FBXW11 skos:exactMatch hgnc:FBXW11 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:13607 semapv:UnspecifiedMatching +OMIM:605651 FBXW11 skos:exactMatch hgnc.symbol:FBXW11 semapv:UnspecifiedMatching OMIM:605651 FBXW11 skos:exactMatch ncbigene:23291 semapv:UnspecifiedMatching -OMIM:605652 FBXL2 skos:exactMatch hgnc:FBXL2 semapv:UnspecifiedMatching +OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:13598 semapv:UnspecifiedMatching +OMIM:605652 FBXL2 skos:exactMatch hgnc.symbol:FBXL2 semapv:UnspecifiedMatching OMIM:605652 FBXL2 skos:exactMatch ncbigene:25827 semapv:UnspecifiedMatching -OMIM:605653 FBXL3 skos:exactMatch hgnc:FBXL3 semapv:UnspecifiedMatching +OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:13599 semapv:UnspecifiedMatching +OMIM:605653 FBXL3 skos:exactMatch hgnc.symbol:FBXL3 semapv:UnspecifiedMatching OMIM:605653 FBXL3 skos:exactMatch ncbigene:26224 semapv:UnspecifiedMatching -OMIM:605654 FBXL4 skos:exactMatch hgnc:FBXL4 semapv:UnspecifiedMatching +OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:13601 semapv:UnspecifiedMatching +OMIM:605654 FBXL4 skos:exactMatch hgnc.symbol:FBXL4 semapv:UnspecifiedMatching OMIM:605654 FBXL4 skos:exactMatch ncbigene:26235 semapv:UnspecifiedMatching -OMIM:605655 FBXL5 skos:exactMatch hgnc:FBXL5 semapv:UnspecifiedMatching +OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:13602 semapv:UnspecifiedMatching +OMIM:605655 FBXL5 skos:exactMatch hgnc.symbol:FBXL5 semapv:UnspecifiedMatching OMIM:605655 FBXL5 skos:exactMatch ncbigene:26234 semapv:UnspecifiedMatching -OMIM:605656 FBXL7 skos:exactMatch hgnc:FBXL7 semapv:UnspecifiedMatching +OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:13604 semapv:UnspecifiedMatching +OMIM:605656 FBXL7 skos:exactMatch hgnc.symbol:FBXL7 semapv:UnspecifiedMatching OMIM:605656 FBXL7 skos:exactMatch ncbigene:23194 semapv:UnspecifiedMatching -OMIM:605657 KDM2A skos:exactMatch hgnc:KDM2A semapv:UnspecifiedMatching +OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:13606 semapv:UnspecifiedMatching +OMIM:605657 KDM2A skos:exactMatch hgnc.symbol:KDM2A semapv:UnspecifiedMatching OMIM:605657 KDM2A skos:exactMatch ncbigene:22992 semapv:UnspecifiedMatching -OMIM:605658 IL25 skos:exactMatch hgnc:IL25 semapv:UnspecifiedMatching +OMIM:605658 IL25 skos:exactMatch hgnc.symbol:13765 semapv:UnspecifiedMatching +OMIM:605658 IL25 skos:exactMatch hgnc.symbol:IL25 semapv:UnspecifiedMatching OMIM:605658 IL25 skos:exactMatch ncbigene:64806 semapv:UnspecifiedMatching -OMIM:605659 CLEC2D skos:exactMatch hgnc:CLEC2D semapv:UnspecifiedMatching +OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:14351 semapv:UnspecifiedMatching +OMIM:605659 CLEC2D skos:exactMatch hgnc.symbol:CLEC2D semapv:UnspecifiedMatching OMIM:605659 CLEC2D skos:exactMatch ncbigene:29121 semapv:UnspecifiedMatching -OMIM:605660 PFDN6 skos:exactMatch hgnc:PFDN6 semapv:UnspecifiedMatching +OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:4926 semapv:UnspecifiedMatching +OMIM:605660 PFDN6 skos:exactMatch hgnc.symbol:PFDN6 semapv:UnspecifiedMatching OMIM:605660 PFDN6 skos:exactMatch ncbigene:10471 semapv:UnspecifiedMatching -OMIM:605661 TRIM13 skos:exactMatch hgnc:TRIM13 semapv:UnspecifiedMatching +OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:9976 semapv:UnspecifiedMatching +OMIM:605661 TRIM13 skos:exactMatch hgnc.symbol:TRIM13 semapv:UnspecifiedMatching OMIM:605661 TRIM13 skos:exactMatch ncbigene:10206 semapv:UnspecifiedMatching -OMIM:605662 RAB36 skos:exactMatch hgnc:RAB36 semapv:UnspecifiedMatching +OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:9775 semapv:UnspecifiedMatching +OMIM:605662 RAB36 skos:exactMatch hgnc.symbol:RAB36 semapv:UnspecifiedMatching OMIM:605662 RAB36 skos:exactMatch ncbigene:9609 semapv:UnspecifiedMatching -OMIM:605663 RSPH14 skos:exactMatch hgnc:RSPH14 semapv:UnspecifiedMatching +OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:13437 semapv:UnspecifiedMatching +OMIM:605663 RSPH14 skos:exactMatch hgnc.symbol:RSPH14 semapv:UnspecifiedMatching OMIM:605663 RSPH14 skos:exactMatch ncbigene:27156 semapv:UnspecifiedMatching -OMIM:605664 KIF20A skos:exactMatch hgnc:KIF20A semapv:UnspecifiedMatching +OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:9787 semapv:UnspecifiedMatching +OMIM:605664 KIF20A skos:exactMatch hgnc.symbol:KIF20A semapv:UnspecifiedMatching OMIM:605664 KIF20A skos:exactMatch ncbigene:10112 semapv:UnspecifiedMatching -OMIM:605666 CYSLTR2 skos:exactMatch hgnc:CYSLTR2 semapv:UnspecifiedMatching +OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:18274 semapv:UnspecifiedMatching +OMIM:605666 CYSLTR2 skos:exactMatch hgnc.symbol:CYSLTR2 semapv:UnspecifiedMatching OMIM:605666 CYSLTR2 skos:exactMatch ncbigene:57105 semapv:UnspecifiedMatching -OMIM:605667 RGL1 skos:exactMatch hgnc:RGL1 semapv:UnspecifiedMatching +OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:30281 semapv:UnspecifiedMatching +OMIM:605667 RGL1 skos:exactMatch hgnc.symbol:RGL1 semapv:UnspecifiedMatching OMIM:605667 RGL1 skos:exactMatch ncbigene:23179 semapv:UnspecifiedMatching -OMIM:605668 BACE2 skos:exactMatch hgnc:BACE2 semapv:UnspecifiedMatching +OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:934 semapv:UnspecifiedMatching +OMIM:605668 BACE2 skos:exactMatch hgnc.symbol:BACE2 semapv:UnspecifiedMatching OMIM:605668 BACE2 skos:exactMatch ncbigene:25825 semapv:UnspecifiedMatching -OMIM:605669 PBOV1 skos:exactMatch hgnc:PBOV1 semapv:UnspecifiedMatching +OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:21079 semapv:UnspecifiedMatching +OMIM:605669 PBOV1 skos:exactMatch hgnc.symbol:PBOV1 semapv:UnspecifiedMatching OMIM:605669 PBOV1 skos:exactMatch ncbigene:59351 semapv:UnspecifiedMatching -OMIM:605671 DMXL1 skos:exactMatch hgnc:DMXL1 semapv:UnspecifiedMatching +OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:2937 semapv:UnspecifiedMatching +OMIM:605671 DMXL1 skos:exactMatch hgnc.symbol:DMXL1 semapv:UnspecifiedMatching OMIM:605671 DMXL1 skos:exactMatch ncbigene:1657 semapv:UnspecifiedMatching OMIM:605673 BTG4 skos:exactMatch UMLS:C1422240 semapv:UnspecifiedMatching OMIM:605673 BTG4 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching -OMIM:605673 BTG4 skos:exactMatch hgnc:BTG4 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:13862 semapv:UnspecifiedMatching +OMIM:605673 BTG4 skos:exactMatch hgnc.symbol:BTG4 semapv:UnspecifiedMatching OMIM:605673 BTG4 skos:exactMatch ncbigene:54766 semapv:UnspecifiedMatching -OMIM:605674 BTG3 skos:exactMatch hgnc:BTG3 semapv:UnspecifiedMatching +OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:1132 semapv:UnspecifiedMatching +OMIM:605674 BTG3 skos:exactMatch hgnc.symbol:BTG3 semapv:UnspecifiedMatching OMIM:605674 BTG3 skos:exactMatch ncbigene:10950 semapv:UnspecifiedMatching -OMIM:605675 RNF14 skos:exactMatch hgnc:RNF14 semapv:UnspecifiedMatching +OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:10058 semapv:UnspecifiedMatching +OMIM:605675 RNF14 skos:exactMatch hgnc.symbol:RNF14 semapv:UnspecifiedMatching OMIM:605675 RNF14 skos:exactMatch ncbigene:9604 semapv:UnspecifiedMatching -OMIM:605677 ACSL5 skos:exactMatch hgnc:ACSL5 semapv:UnspecifiedMatching +OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:16526 semapv:UnspecifiedMatching +OMIM:605677 ACSL5 skos:exactMatch hgnc.symbol:ACSL5 semapv:UnspecifiedMatching OMIM:605677 ACSL5 skos:exactMatch ncbigene:51703 semapv:UnspecifiedMatching -OMIM:605678 MLXIPL skos:exactMatch hgnc:MLXIPL semapv:UnspecifiedMatching +OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:12744 semapv:UnspecifiedMatching +OMIM:605678 MLXIPL skos:exactMatch hgnc.symbol:MLXIPL semapv:UnspecifiedMatching OMIM:605678 MLXIPL skos:exactMatch ncbigene:51085 semapv:UnspecifiedMatching -OMIM:605679 IL26 skos:exactMatch hgnc:IL26 semapv:UnspecifiedMatching +OMIM:605679 IL26 skos:exactMatch hgnc.symbol:17119 semapv:UnspecifiedMatching +OMIM:605679 IL26 skos:exactMatch hgnc.symbol:IL26 semapv:UnspecifiedMatching OMIM:605679 IL26 skos:exactMatch ncbigene:55801 semapv:UnspecifiedMatching -OMIM:605680 BAZ1A skos:exactMatch hgnc:BAZ1A semapv:UnspecifiedMatching +OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:960 semapv:UnspecifiedMatching +OMIM:605680 BAZ1A skos:exactMatch hgnc.symbol:BAZ1A semapv:UnspecifiedMatching OMIM:605680 BAZ1A skos:exactMatch ncbigene:11177 semapv:UnspecifiedMatching OMIM:605681 BAZ1B skos:exactMatch UMLS:C1412742 semapv:UnspecifiedMatching -OMIM:605681 BAZ1B skos:exactMatch hgnc:BAZ1B semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:961 semapv:UnspecifiedMatching +OMIM:605681 BAZ1B skos:exactMatch hgnc.symbol:BAZ1B semapv:UnspecifiedMatching OMIM:605681 BAZ1B skos:exactMatch ncbigene:9031 semapv:UnspecifiedMatching -OMIM:605682 BAZ2A skos:exactMatch hgnc:BAZ2A semapv:UnspecifiedMatching +OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:962 semapv:UnspecifiedMatching +OMIM:605682 BAZ2A skos:exactMatch hgnc.symbol:BAZ2A semapv:UnspecifiedMatching OMIM:605682 BAZ2A skos:exactMatch ncbigene:11176 semapv:UnspecifiedMatching OMIM:605683 BAZ2B skos:exactMatch UMLS:C1412744 semapv:UnspecifiedMatching -OMIM:605683 BAZ2B skos:exactMatch hgnc:BAZ2B semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:963 semapv:UnspecifiedMatching +OMIM:605683 BAZ2B skos:exactMatch hgnc.symbol:BAZ2B semapv:UnspecifiedMatching OMIM:605683 BAZ2B skos:exactMatch ncbigene:29994 semapv:UnspecifiedMatching -OMIM:605684 TRIM34 skos:exactMatch hgnc:TRIM34 semapv:UnspecifiedMatching +OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:10063 semapv:UnspecifiedMatching +OMIM:605684 TRIM34 skos:exactMatch hgnc.symbol:TRIM34 semapv:UnspecifiedMatching OMIM:605684 TRIM34 skos:exactMatch ncbigene:53840 semapv:UnspecifiedMatching -OMIM:605686 CADM1 skos:exactMatch hgnc:CADM1 semapv:UnspecifiedMatching +OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:5951 semapv:UnspecifiedMatching +OMIM:605686 CADM1 skos:exactMatch hgnc.symbol:CADM1 semapv:UnspecifiedMatching OMIM:605686 CADM1 skos:exactMatch ncbigene:23705 semapv:UnspecifiedMatching -OMIM:605687 IL19 skos:exactMatch hgnc:IL19 semapv:UnspecifiedMatching +OMIM:605687 IL19 skos:exactMatch hgnc.symbol:5990 semapv:UnspecifiedMatching +OMIM:605687 IL19 skos:exactMatch hgnc.symbol:IL19 semapv:UnspecifiedMatching OMIM:605687 IL19 skos:exactMatch ncbigene:29949 semapv:UnspecifiedMatching OMIM:605688 CPNE6 skos:exactMatch UMLS:C1413680 semapv:UnspecifiedMatching -OMIM:605688 CPNE6 skos:exactMatch hgnc:CPNE6 semapv:UnspecifiedMatching +OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:2319 semapv:UnspecifiedMatching +OMIM:605688 CPNE6 skos:exactMatch hgnc.symbol:CPNE6 semapv:UnspecifiedMatching OMIM:605688 CPNE6 skos:exactMatch ncbigene:9362 semapv:UnspecifiedMatching OMIM:605689 CPNE7 skos:exactMatch UMLS:C1332778 semapv:UnspecifiedMatching -OMIM:605689 CPNE7 skos:exactMatch hgnc:CPNE7 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:2320 semapv:UnspecifiedMatching +OMIM:605689 CPNE7 skos:exactMatch hgnc.symbol:CPNE7 semapv:UnspecifiedMatching OMIM:605689 CPNE7 skos:exactMatch ncbigene:27132 semapv:UnspecifiedMatching -OMIM:605690 BICRA skos:exactMatch hgnc:BICRA semapv:UnspecifiedMatching +OMIM:605690 BICRA skos:exactMatch hgnc.symbol:4332 semapv:UnspecifiedMatching +OMIM:605690 BICRA skos:exactMatch hgnc.symbol:BICRA semapv:UnspecifiedMatching OMIM:605690 BICRA skos:exactMatch ncbigene:29998 semapv:UnspecifiedMatching -OMIM:605691 NOP53 skos:exactMatch hgnc:NOP53 semapv:UnspecifiedMatching +OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:4333 semapv:UnspecifiedMatching +OMIM:605691 NOP53 skos:exactMatch hgnc.symbol:NOP53 semapv:UnspecifiedMatching OMIM:605691 NOP53 skos:exactMatch ncbigene:29997 semapv:UnspecifiedMatching -OMIM:605692 TRPM7 skos:exactMatch hgnc:TRPM7 semapv:UnspecifiedMatching +OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:17994 semapv:UnspecifiedMatching +OMIM:605692 TRPM7 skos:exactMatch hgnc.symbol:TRPM7 semapv:UnspecifiedMatching OMIM:605692 TRPM7 skos:exactMatch ncbigene:54822 semapv:UnspecifiedMatching -OMIM:605693 RAB30 skos:exactMatch hgnc:RAB30 semapv:UnspecifiedMatching +OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:9770 semapv:UnspecifiedMatching +OMIM:605693 RAB30 skos:exactMatch hgnc.symbol:RAB30 semapv:UnspecifiedMatching OMIM:605693 RAB30 skos:exactMatch ncbigene:27314 semapv:UnspecifiedMatching -OMIM:605694 RAB31 skos:exactMatch hgnc:RAB31 semapv:UnspecifiedMatching +OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:9771 semapv:UnspecifiedMatching +OMIM:605694 RAB31 skos:exactMatch hgnc.symbol:RAB31 semapv:UnspecifiedMatching OMIM:605694 RAB31 skos:exactMatch ncbigene:11031 semapv:UnspecifiedMatching -OMIM:605695 BLOC1S4 skos:exactMatch hgnc:BLOC1S4 semapv:UnspecifiedMatching +OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:24206 semapv:UnspecifiedMatching +OMIM:605695 BLOC1S4 skos:exactMatch hgnc.symbol:BLOC1S4 semapv:UnspecifiedMatching OMIM:605695 BLOC1S4 skos:exactMatch ncbigene:55330 semapv:UnspecifiedMatching -OMIM:605696 KCNG2 skos:exactMatch hgnc:KCNG2 semapv:UnspecifiedMatching +OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:6249 semapv:UnspecifiedMatching +OMIM:605696 KCNG2 skos:exactMatch hgnc.symbol:KCNG2 semapv:UnspecifiedMatching OMIM:605696 KCNG2 skos:exactMatch ncbigene:26251 semapv:UnspecifiedMatching -OMIM:605697 ULBP1 skos:exactMatch hgnc:ULBP1 semapv:UnspecifiedMatching +OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:14893 semapv:UnspecifiedMatching +OMIM:605697 ULBP1 skos:exactMatch hgnc.symbol:ULBP1 semapv:UnspecifiedMatching OMIM:605697 ULBP1 skos:exactMatch ncbigene:80329 semapv:UnspecifiedMatching -OMIM:605698 ULBP2 skos:exactMatch hgnc:ULBP2 semapv:UnspecifiedMatching +OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:14894 semapv:UnspecifiedMatching +OMIM:605698 ULBP2 skos:exactMatch hgnc.symbol:ULBP2 semapv:UnspecifiedMatching OMIM:605698 ULBP2 skos:exactMatch ncbigene:80328 semapv:UnspecifiedMatching -OMIM:605699 ULBP3 skos:exactMatch hgnc:ULBP3 semapv:UnspecifiedMatching +OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:14895 semapv:UnspecifiedMatching +OMIM:605699 ULBP3 skos:exactMatch hgnc.symbol:ULBP3 semapv:UnspecifiedMatching OMIM:605699 ULBP3 skos:exactMatch ncbigene:79465 semapv:UnspecifiedMatching -OMIM:605700 TRIM39 skos:exactMatch hgnc:TRIM39 semapv:UnspecifiedMatching +OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:10065 semapv:UnspecifiedMatching +OMIM:605700 TRIM39 skos:exactMatch hgnc.symbol:TRIM39 semapv:UnspecifiedMatching OMIM:605700 TRIM39 skos:exactMatch ncbigene:56658 semapv:UnspecifiedMatching -OMIM:605701 TRIM10 skos:exactMatch hgnc:TRIM10 semapv:UnspecifiedMatching +OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:10072 semapv:UnspecifiedMatching +OMIM:605701 TRIM10 skos:exactMatch hgnc.symbol:TRIM10 semapv:UnspecifiedMatching OMIM:605701 TRIM10 skos:exactMatch ncbigene:10107 semapv:UnspecifiedMatching -OMIM:605702 LYVE1 skos:exactMatch hgnc:LYVE1 semapv:UnspecifiedMatching +OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:14687 semapv:UnspecifiedMatching +OMIM:605702 LYVE1 skos:exactMatch hgnc.symbol:LYVE1 semapv:UnspecifiedMatching OMIM:605702 LYVE1 skos:exactMatch ncbigene:10894 semapv:UnspecifiedMatching -OMIM:605703 VAPA skos:exactMatch hgnc:VAPA semapv:UnspecifiedMatching +OMIM:605703 VAPA skos:exactMatch hgnc.symbol:12648 semapv:UnspecifiedMatching +OMIM:605703 VAPA skos:exactMatch hgnc.symbol:VAPA semapv:UnspecifiedMatching OMIM:605703 VAPA skos:exactMatch ncbigene:9218 semapv:UnspecifiedMatching -OMIM:605704 VAPB skos:exactMatch hgnc:VAPB semapv:UnspecifiedMatching +OMIM:605704 VAPB skos:exactMatch hgnc.symbol:12649 semapv:UnspecifiedMatching +OMIM:605704 VAPB skos:exactMatch hgnc.symbol:VAPB semapv:UnspecifiedMatching OMIM:605704 VAPB skos:exactMatch ncbigene:9217 semapv:UnspecifiedMatching OMIM:605705 SIK1 skos:exactMatch UMLS:C1420279 semapv:UnspecifiedMatching OMIM:605705 SIK1 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching -OMIM:605705 SIK1 skos:exactMatch hgnc:SIK1 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:11142 semapv:UnspecifiedMatching +OMIM:605705 SIK1 skos:exactMatch hgnc.symbol:SIK1 semapv:UnspecifiedMatching OMIM:605705 SIK1 skos:exactMatch ncbigene:150094 semapv:UnspecifiedMatching OMIM:605706 RIPK4 skos:exactMatch UMLS:C0406733 semapv:UnspecifiedMatching OMIM:605706 RIPK4 skos:exactMatch UMLS:C1538842 semapv:UnspecifiedMatching OMIM:605706 RIPK4 skos:exactMatch UMLS:C1849718 semapv:UnspecifiedMatching -OMIM:605706 RIPK4 skos:exactMatch hgnc:RIPK4 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:496 semapv:UnspecifiedMatching +OMIM:605706 RIPK4 skos:exactMatch hgnc.symbol:RIPK4 semapv:UnspecifiedMatching OMIM:605706 RIPK4 skos:exactMatch ncbigene:54101 semapv:UnspecifiedMatching -OMIM:605708 ARHGEF11 skos:exactMatch hgnc:ARHGEF11 semapv:UnspecifiedMatching +OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:14580 semapv:UnspecifiedMatching +OMIM:605708 ARHGEF11 skos:exactMatch hgnc.symbol:ARHGEF11 semapv:UnspecifiedMatching OMIM:605708 ARHGEF11 skos:exactMatch ncbigene:9826 semapv:UnspecifiedMatching OMIM:605709 ARL6IP5 skos:exactMatch UMLS:C1538931 semapv:UnspecifiedMatching -OMIM:605709 ARL6IP5 skos:exactMatch hgnc:ARL6IP5 semapv:UnspecifiedMatching +OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:16937 semapv:UnspecifiedMatching +OMIM:605709 ARL6IP5 skos:exactMatch hgnc.symbol:ARL6IP5 semapv:UnspecifiedMatching OMIM:605709 ARL6IP5 skos:exactMatch ncbigene:10550 semapv:UnspecifiedMatching -OMIM:605710 GFRA3 skos:exactMatch hgnc:GFRA3 semapv:UnspecifiedMatching +OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:4245 semapv:UnspecifiedMatching +OMIM:605710 GFRA3 skos:exactMatch hgnc.symbol:GFRA3 semapv:UnspecifiedMatching OMIM:605710 GFRA3 skos:exactMatch ncbigene:2676 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C1420390 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5231533 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch UMLS:C5235211 semapv:UnspecifiedMatching -OMIM:605712 SPTLC1 skos:exactMatch hgnc:SPTLC1 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:11277 semapv:UnspecifiedMatching +OMIM:605712 SPTLC1 skos:exactMatch hgnc.symbol:SPTLC1 semapv:UnspecifiedMatching OMIM:605712 SPTLC1 skos:exactMatch ncbigene:10558 semapv:UnspecifiedMatching -OMIM:605713 SPTLC2 skos:exactMatch hgnc:SPTLC2 semapv:UnspecifiedMatching +OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:11278 semapv:UnspecifiedMatching +OMIM:605713 SPTLC2 skos:exactMatch hgnc.symbol:SPTLC2 semapv:UnspecifiedMatching OMIM:605713 SPTLC2 skos:exactMatch ncbigene:9517 semapv:UnspecifiedMatching -OMIM:605715 CD276 skos:exactMatch hgnc:CD276 semapv:UnspecifiedMatching +OMIM:605715 CD276 skos:exactMatch hgnc.symbol:19137 semapv:UnspecifiedMatching +OMIM:605715 CD276 skos:exactMatch hgnc.symbol:CD276 semapv:UnspecifiedMatching OMIM:605715 CD276 skos:exactMatch ncbigene:80381 semapv:UnspecifiedMatching -OMIM:605716 KCNH5 skos:exactMatch hgnc:KCNH5 semapv:UnspecifiedMatching +OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:6254 semapv:UnspecifiedMatching +OMIM:605716 KCNH5 skos:exactMatch hgnc.symbol:KCNH5 semapv:UnspecifiedMatching OMIM:605716 KCNH5 skos:exactMatch ncbigene:27133 semapv:UnspecifiedMatching -OMIM:605717 ICOSLG skos:exactMatch hgnc:ICOSLG semapv:UnspecifiedMatching +OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:17087 semapv:UnspecifiedMatching +OMIM:605717 ICOSLG skos:exactMatch hgnc.symbol:ICOSLG semapv:UnspecifiedMatching OMIM:605717 ICOSLG skos:exactMatch ncbigene:23308 semapv:UnspecifiedMatching -OMIM:605718 MED4 skos:exactMatch hgnc:MED4 semapv:UnspecifiedMatching +OMIM:605718 MED4 skos:exactMatch hgnc.symbol:17903 semapv:UnspecifiedMatching +OMIM:605718 MED4 skos:exactMatch hgnc.symbol:MED4 semapv:UnspecifiedMatching OMIM:605718 MED4 skos:exactMatch ncbigene:29079 semapv:UnspecifiedMatching -OMIM:605719 LAT2 skos:exactMatch hgnc:LAT2 semapv:UnspecifiedMatching +OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:12749 semapv:UnspecifiedMatching +OMIM:605719 LAT2 skos:exactMatch hgnc.symbol:LAT2 semapv:UnspecifiedMatching OMIM:605719 LAT2 skos:exactMatch ncbigene:7462 semapv:UnspecifiedMatching -OMIM:605720 KCNK4 skos:exactMatch hgnc:KCNK4 semapv:UnspecifiedMatching +OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:6279 semapv:UnspecifiedMatching +OMIM:605720 KCNK4 skos:exactMatch hgnc.symbol:KCNK4 semapv:UnspecifiedMatching OMIM:605720 KCNK4 skos:exactMatch ncbigene:50801 semapv:UnspecifiedMatching -OMIM:605721 JAM1 skos:exactMatch hgnc:F11R semapv:UnspecifiedMatching +OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:14685 semapv:UnspecifiedMatching +OMIM:605721 JAM1 skos:exactMatch hgnc.symbol:F11R semapv:UnspecifiedMatching OMIM:605721 JAM1 skos:exactMatch ncbigene:50848 semapv:UnspecifiedMatching -OMIM:605722 KCNJ16 skos:exactMatch hgnc:KCNJ16 semapv:UnspecifiedMatching +OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:6262 semapv:UnspecifiedMatching +OMIM:605722 KCNJ16 skos:exactMatch hgnc.symbol:KCNJ16 semapv:UnspecifiedMatching OMIM:605722 KCNJ16 skos:exactMatch ncbigene:3773 semapv:UnspecifiedMatching -OMIM:605723 PDCD1LG2 skos:exactMatch hgnc:PDCD1LG2 semapv:UnspecifiedMatching +OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:18731 semapv:UnspecifiedMatching +OMIM:605723 PDCD1LG2 skos:exactMatch hgnc.symbol:PDCD1LG2 semapv:UnspecifiedMatching OMIM:605723 PDCD1LG2 skos:exactMatch ncbigene:80380 semapv:UnspecifiedMatching +OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch Orphanet:319462 semapv:UnspecifiedMatching OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch UMLS:C1838457 semapv:UnspecifiedMatching -OMIM:605724 fanconi anemia, complementation group d1 skos:exactMatch orphanet.ordo:319462 semapv:UnspecifiedMatching -OMIM:605725 PRX skos:exactMatch hgnc:PRX semapv:UnspecifiedMatching +OMIM:605725 PRX skos:exactMatch hgnc.symbol:13797 semapv:UnspecifiedMatching +OMIM:605725 PRX skos:exactMatch hgnc.symbol:PRX semapv:UnspecifiedMatching OMIM:605725 PRX skos:exactMatch ncbigene:57716 semapv:UnspecifiedMatching -OMIM:605729 AKNA skos:exactMatch hgnc:AKNA semapv:UnspecifiedMatching +OMIM:605729 AKNA skos:exactMatch hgnc.symbol:24108 semapv:UnspecifiedMatching +OMIM:605729 AKNA skos:exactMatch hgnc.symbol:AKNA semapv:UnspecifiedMatching OMIM:605729 AKNA skos:exactMatch ncbigene:80709 semapv:UnspecifiedMatching -OMIM:605730 SPAG6 skos:exactMatch hgnc:SPAG6 semapv:UnspecifiedMatching +OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:11215 semapv:UnspecifiedMatching +OMIM:605730 SPAG6 skos:exactMatch hgnc.symbol:SPAG6 semapv:UnspecifiedMatching OMIM:605730 SPAG6 skos:exactMatch ncbigene:9576 semapv:UnspecifiedMatching -OMIM:605731 SPAG8 skos:exactMatch hgnc:SPAG8 semapv:UnspecifiedMatching +OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:14105 semapv:UnspecifiedMatching +OMIM:605731 SPAG8 skos:exactMatch hgnc.symbol:SPAG8 semapv:UnspecifiedMatching OMIM:605731 SPAG8 skos:exactMatch ncbigene:26206 semapv:UnspecifiedMatching OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C1422006 semapv:UnspecifiedMatching OMIM:605732 TNFRSF21 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605732 TNFRSF21 skos:exactMatch hgnc:TNFRSF21 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:13469 semapv:UnspecifiedMatching +OMIM:605732 TNFRSF21 skos:exactMatch hgnc.symbol:TNFRSF21 semapv:UnspecifiedMatching OMIM:605732 TNFRSF21 skos:exactMatch ncbigene:27242 semapv:UnspecifiedMatching -OMIM:605733 PRELID1 skos:exactMatch hgnc:PRELID1 semapv:UnspecifiedMatching +OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:30255 semapv:UnspecifiedMatching +OMIM:605733 PRELID1 skos:exactMatch hgnc.symbol:PRELID1 semapv:UnspecifiedMatching OMIM:605733 PRELID1 skos:exactMatch ncbigene:27166 semapv:UnspecifiedMatching -OMIM:605734 TMEFF2 skos:exactMatch hgnc:TMEFF2 semapv:UnspecifiedMatching +OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:11867 semapv:UnspecifiedMatching +OMIM:605734 TMEFF2 skos:exactMatch hgnc.symbol:TMEFF2 semapv:UnspecifiedMatching OMIM:605734 TMEFF2 skos:exactMatch ncbigene:23671 semapv:UnspecifiedMatching -OMIM:605736 UBASH3A skos:exactMatch hgnc:UBASH3A semapv:UnspecifiedMatching +OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:12462 semapv:UnspecifiedMatching +OMIM:605736 UBASH3A skos:exactMatch hgnc.symbol:UBASH3A semapv:UnspecifiedMatching OMIM:605736 UBASH3A skos:exactMatch ncbigene:53347 semapv:UnspecifiedMatching -OMIM:605737 BIRC7 skos:exactMatch hgnc:BIRC7 semapv:UnspecifiedMatching +OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:13702 semapv:UnspecifiedMatching +OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:BIRC7 semapv:UnspecifiedMatching OMIM:605737 BIRC7 skos:exactMatch ncbigene:79444 semapv:UnspecifiedMatching -OMIM:605739 KY skos:exactMatch hgnc:KY semapv:UnspecifiedMatching +OMIM:605739 KY skos:exactMatch hgnc.symbol:26576 semapv:UnspecifiedMatching +OMIM:605739 KY skos:exactMatch hgnc.symbol:KY semapv:UnspecifiedMatching OMIM:605739 KY skos:exactMatch ncbigene:339855 semapv:UnspecifiedMatching -OMIM:605740 SOST skos:exactMatch hgnc:SOST semapv:UnspecifiedMatching +OMIM:605740 SOST skos:exactMatch hgnc.symbol:13771 semapv:UnspecifiedMatching +OMIM:605740 SOST skos:exactMatch hgnc.symbol:SOST semapv:UnspecifiedMatching OMIM:605740 SOST skos:exactMatch ncbigene:50964 semapv:UnspecifiedMatching -OMIM:605741 GPR183 skos:exactMatch hgnc:GPR183 semapv:UnspecifiedMatching +OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:3128 semapv:UnspecifiedMatching +OMIM:605741 GPR183 skos:exactMatch hgnc.symbol:GPR183 semapv:UnspecifiedMatching OMIM:605741 GPR183 skos:exactMatch ncbigene:1880 semapv:UnspecifiedMatching -OMIM:605742 TUBA8 skos:exactMatch hgnc:TUBA8 semapv:UnspecifiedMatching +OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:12410 semapv:UnspecifiedMatching +OMIM:605742 TUBA8 skos:exactMatch hgnc.symbol:TUBA8 semapv:UnspecifiedMatching OMIM:605742 TUBA8 skos:exactMatch ncbigene:51807 semapv:UnspecifiedMatching OMIM:605743 HHAT skos:exactMatch UMLS:C1539668 semapv:UnspecifiedMatching OMIM:605743 HHAT skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching -OMIM:605743 HHAT skos:exactMatch hgnc:HHAT semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch hgnc.symbol:18270 semapv:UnspecifiedMatching +OMIM:605743 HHAT skos:exactMatch hgnc.symbol:HHAT semapv:UnspecifiedMatching OMIM:605743 HHAT skos:exactMatch ncbigene:55733 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch UMLS:C1367595 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch UMLS:C4479452 semapv:UnspecifiedMatching -OMIM:605744 EXTL3 skos:exactMatch hgnc:EXTL3 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:3518 semapv:UnspecifiedMatching +OMIM:605744 EXTL3 skos:exactMatch hgnc.symbol:EXTL3 semapv:UnspecifiedMatching OMIM:605744 EXTL3 skos:exactMatch ncbigene:2137 semapv:UnspecifiedMatching -OMIM:605745 CYBRD1 skos:exactMatch hgnc:CYBRD1 semapv:UnspecifiedMatching +OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:20797 semapv:UnspecifiedMatching +OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:CYBRD1 semapv:UnspecifiedMatching OMIM:605745 CYBRD1 skos:exactMatch ncbigene:79901 semapv:UnspecifiedMatching -OMIM:605747 LDLRAP1 skos:exactMatch hgnc:LDLRAP1 semapv:UnspecifiedMatching +OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:18640 semapv:UnspecifiedMatching +OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:LDLRAP1 semapv:UnspecifiedMatching OMIM:605747 LDLRAP1 skos:exactMatch ncbigene:26119 semapv:UnspecifiedMatching -OMIM:605748 BCO1 skos:exactMatch hgnc:BCO1 semapv:UnspecifiedMatching +OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:13815 semapv:UnspecifiedMatching +OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:BCO1 semapv:UnspecifiedMatching OMIM:605748 BCO1 skos:exactMatch ncbigene:53630 semapv:UnspecifiedMatching -OMIM:605752 HID1 skos:exactMatch hgnc:HID1 semapv:UnspecifiedMatching +OMIM:605752 HID1 skos:exactMatch hgnc.symbol:15736 semapv:UnspecifiedMatching +OMIM:605752 HID1 skos:exactMatch hgnc.symbol:HID1 semapv:UnspecifiedMatching OMIM:605752 HID1 skos:exactMatch ncbigene:283987 semapv:UnspecifiedMatching -OMIM:605753 SPINK2 skos:exactMatch hgnc:SPINK2 semapv:UnspecifiedMatching +OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:11245 semapv:UnspecifiedMatching +OMIM:605753 SPINK2 skos:exactMatch hgnc.symbol:SPINK2 semapv:UnspecifiedMatching OMIM:605753 SPINK2 skos:exactMatch ncbigene:6691 semapv:UnspecifiedMatching OMIM:605754 PIGQ skos:exactMatch UMLS:C1422429 semapv:UnspecifiedMatching OMIM:605754 PIGQ skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching -OMIM:605754 PIGQ skos:exactMatch hgnc:PIGQ semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:14135 semapv:UnspecifiedMatching +OMIM:605754 PIGQ skos:exactMatch hgnc.symbol:PIGQ semapv:UnspecifiedMatching OMIM:605754 PIGQ skos:exactMatch ncbigene:9091 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch UMLS:C1425339 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch UMLS:C1857750 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch UMLS:C4015542 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch UMLS:C4479344 semapv:UnspecifiedMatching -OMIM:605755 DCDC2 skos:exactMatch hgnc:DCDC2 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:18141 semapv:UnspecifiedMatching +OMIM:605755 DCDC2 skos:exactMatch hgnc.symbol:DCDC2 semapv:UnspecifiedMatching OMIM:605755 DCDC2 skos:exactMatch ncbigene:51473 semapv:UnspecifiedMatching OMIM:605757 PELO skos:exactMatch UMLS:C1418455 semapv:UnspecifiedMatching -OMIM:605757 PELO skos:exactMatch hgnc:PELO semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch hgnc.symbol:8829 semapv:UnspecifiedMatching +OMIM:605757 PELO skos:exactMatch hgnc.symbol:PELO semapv:UnspecifiedMatching OMIM:605757 PELO skos:exactMatch ncbigene:53918 semapv:UnspecifiedMatching -OMIM:605758 ASB1 skos:exactMatch hgnc:ASB1 semapv:UnspecifiedMatching +OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:16011 semapv:UnspecifiedMatching +OMIM:605758 ASB1 skos:exactMatch hgnc.symbol:ASB1 semapv:UnspecifiedMatching OMIM:605758 ASB1 skos:exactMatch ncbigene:51665 semapv:UnspecifiedMatching -OMIM:605759 ASB2 skos:exactMatch hgnc:ASB2 semapv:UnspecifiedMatching +OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:16012 semapv:UnspecifiedMatching +OMIM:605759 ASB2 skos:exactMatch hgnc.symbol:ASB2 semapv:UnspecifiedMatching OMIM:605759 ASB2 skos:exactMatch ncbigene:51676 semapv:UnspecifiedMatching -OMIM:605760 ASB3 skos:exactMatch hgnc:ASB3 semapv:UnspecifiedMatching +OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:16013 semapv:UnspecifiedMatching +OMIM:605760 ASB3 skos:exactMatch hgnc.symbol:ASB3 semapv:UnspecifiedMatching OMIM:605760 ASB3 skos:exactMatch ncbigene:51130 semapv:UnspecifiedMatching -OMIM:605761 ASB4 skos:exactMatch hgnc:ASB4 semapv:UnspecifiedMatching +OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:16009 semapv:UnspecifiedMatching +OMIM:605761 ASB4 skos:exactMatch hgnc.symbol:ASB4 semapv:UnspecifiedMatching OMIM:605761 ASB4 skos:exactMatch ncbigene:51666 semapv:UnspecifiedMatching -OMIM:605762 MOK skos:exactMatch hgnc:MOK semapv:UnspecifiedMatching +OMIM:605762 MOK skos:exactMatch hgnc.symbol:9833 semapv:UnspecifiedMatching +OMIM:605762 MOK skos:exactMatch hgnc.symbol:MOK semapv:UnspecifiedMatching OMIM:605762 MOK skos:exactMatch ncbigene:5891 semapv:UnspecifiedMatching -OMIM:605763 SLC45A1 skos:exactMatch hgnc:SLC45A1 semapv:UnspecifiedMatching +OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:17939 semapv:UnspecifiedMatching +OMIM:605763 SLC45A1 skos:exactMatch hgnc.symbol:SLC45A1 semapv:UnspecifiedMatching OMIM:605763 SLC45A1 skos:exactMatch ncbigene:50651 semapv:UnspecifiedMatching -OMIM:605764 TDP2 skos:exactMatch hgnc:TDP2 semapv:UnspecifiedMatching +OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:17768 semapv:UnspecifiedMatching +OMIM:605764 TDP2 skos:exactMatch hgnc.symbol:TDP2 semapv:UnspecifiedMatching OMIM:605764 TDP2 skos:exactMatch ncbigene:51567 semapv:UnspecifiedMatching -OMIM:605765 DLEU1 skos:exactMatch hgnc:DLEU1 semapv:UnspecifiedMatching +OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:13747 semapv:UnspecifiedMatching +OMIM:605765 DLEU1 skos:exactMatch hgnc.symbol:DLEU1 semapv:UnspecifiedMatching OMIM:605765 DLEU1 skos:exactMatch ncbigene:10301 semapv:UnspecifiedMatching -OMIM:605766 DLEU2 skos:exactMatch hgnc:DLEU2 semapv:UnspecifiedMatching +OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:13748 semapv:UnspecifiedMatching +OMIM:605766 DLEU2 skos:exactMatch hgnc.symbol:DLEU2 semapv:UnspecifiedMatching OMIM:605766 DLEU2 skos:exactMatch ncbigene:8847 semapv:UnspecifiedMatching -OMIM:605767 PAG1 skos:exactMatch hgnc:PAG1 semapv:UnspecifiedMatching +OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:30043 semapv:UnspecifiedMatching +OMIM:605767 PAG1 skos:exactMatch hgnc.symbol:PAG1 semapv:UnspecifiedMatching OMIM:605767 PAG1 skos:exactMatch ncbigene:55824 semapv:UnspecifiedMatching -OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc:DAPP1 semapv:UnspecifiedMatching +OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:16500 semapv:UnspecifiedMatching +OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch hgnc.symbol:DAPP1 semapv:UnspecifiedMatching OMIM:605768 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 skos:exactMatch ncbigene:27071 semapv:UnspecifiedMatching -OMIM:605769 TRIM33 skos:exactMatch hgnc:TRIM33 semapv:UnspecifiedMatching +OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:16290 semapv:UnspecifiedMatching +OMIM:605769 TRIM33 skos:exactMatch hgnc.symbol:TRIM33 semapv:UnspecifiedMatching OMIM:605769 TRIM33 skos:exactMatch ncbigene:51592 semapv:UnspecifiedMatching -OMIM:605770 ILVBL skos:exactMatch hgnc:ILVBL semapv:UnspecifiedMatching +OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:6041 semapv:UnspecifiedMatching +OMIM:605770 ILVBL skos:exactMatch hgnc.symbol:ILVBL semapv:UnspecifiedMatching OMIM:605770 ILVBL skos:exactMatch ncbigene:10994 semapv:UnspecifiedMatching -OMIM:605771 COX7A2L skos:exactMatch hgnc:COX7A2L semapv:UnspecifiedMatching +OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:2289 semapv:UnspecifiedMatching +OMIM:605771 COX7A2L skos:exactMatch hgnc.symbol:COX7A2L semapv:UnspecifiedMatching OMIM:605771 COX7A2L skos:exactMatch ncbigene:9167 semapv:UnspecifiedMatching -OMIM:605772 EBAG9 skos:exactMatch hgnc:EBAG9 semapv:UnspecifiedMatching +OMIM:605772 EBAG9 skos:exactMatch hgnc.symbol:3123 semapv:UnspecifiedMatching +OMIM:605772 EBAG9 skos:exactMatch hgnc.symbol:EBAG9 semapv:UnspecifiedMatching OMIM:605772 EBAG9 skos:exactMatch ncbigene:9166 semapv:UnspecifiedMatching -OMIM:605773 LTB4R2 skos:exactMatch hgnc:LTB4R2 semapv:UnspecifiedMatching +OMIM:605773 LTB4R2 skos:exactMatch hgnc.symbol:19260 semapv:UnspecifiedMatching +OMIM:605773 LTB4R2 skos:exactMatch hgnc.symbol:LTB4R2 semapv:UnspecifiedMatching OMIM:605773 LTB4R2 skos:exactMatch ncbigene:56413 semapv:UnspecifiedMatching -OMIM:605774 KLHL2 skos:exactMatch hgnc:KLHL2 semapv:UnspecifiedMatching +OMIM:605774 KLHL2 skos:exactMatch hgnc.symbol:6353 semapv:UnspecifiedMatching +OMIM:605774 KLHL2 skos:exactMatch hgnc.symbol:KLHL2 semapv:UnspecifiedMatching OMIM:605774 KLHL2 skos:exactMatch ncbigene:11275 semapv:UnspecifiedMatching -OMIM:605775 KLHL3 skos:exactMatch hgnc:KLHL3 semapv:UnspecifiedMatching +OMIM:605775 KLHL3 skos:exactMatch hgnc.symbol:6354 semapv:UnspecifiedMatching +OMIM:605775 KLHL3 skos:exactMatch hgnc.symbol:KLHL3 semapv:UnspecifiedMatching OMIM:605775 KLHL3 skos:exactMatch ncbigene:26249 semapv:UnspecifiedMatching -OMIM:605776 FGL1 skos:exactMatch hgnc:FGL1 semapv:UnspecifiedMatching +OMIM:605776 FGL1 skos:exactMatch hgnc.symbol:3695 semapv:UnspecifiedMatching +OMIM:605776 FGL1 skos:exactMatch hgnc.symbol:FGL1 semapv:UnspecifiedMatching OMIM:605776 FGL1 skos:exactMatch ncbigene:2267 semapv:UnspecifiedMatching -OMIM:605777 SMPD3 skos:exactMatch hgnc:SMPD3 semapv:UnspecifiedMatching +OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:14240 semapv:UnspecifiedMatching +OMIM:605777 SMPD3 skos:exactMatch hgnc.symbol:SMPD3 semapv:UnspecifiedMatching OMIM:605777 SMPD3 skos:exactMatch ncbigene:55512 semapv:UnspecifiedMatching -OMIM:605778 NIF3L1 skos:exactMatch hgnc:NIF3L1 semapv:UnspecifiedMatching +OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:13390 semapv:UnspecifiedMatching +OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:NIF3L1 semapv:UnspecifiedMatching OMIM:605778 NIF3L1 skos:exactMatch ncbigene:60491 semapv:UnspecifiedMatching -OMIM:605780 PRDM4 skos:exactMatch hgnc:PRDM4 semapv:UnspecifiedMatching +OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:9348 semapv:UnspecifiedMatching +OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:PRDM4 semapv:UnspecifiedMatching OMIM:605780 PRDM4 skos:exactMatch ncbigene:11108 semapv:UnspecifiedMatching -OMIM:605781 RHOD skos:exactMatch hgnc:RHOD semapv:UnspecifiedMatching +OMIM:605781 RHOD skos:exactMatch hgnc.symbol:670 semapv:UnspecifiedMatching +OMIM:605781 RHOD skos:exactMatch hgnc.symbol:RHOD semapv:UnspecifiedMatching OMIM:605781 RHOD skos:exactMatch ncbigene:29984 semapv:UnspecifiedMatching -OMIM:605782 EIF5A2 skos:exactMatch hgnc:EIF5A2 semapv:UnspecifiedMatching +OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:3301 semapv:UnspecifiedMatching +OMIM:605782 EIF5A2 skos:exactMatch hgnc.symbol:EIF5A2 semapv:UnspecifiedMatching OMIM:605782 EIF5A2 skos:exactMatch ncbigene:56648 semapv:UnspecifiedMatching -OMIM:605783 BCAS2 skos:exactMatch hgnc:BCAS2 semapv:UnspecifiedMatching +OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:975 semapv:UnspecifiedMatching +OMIM:605783 BCAS2 skos:exactMatch hgnc.symbol:BCAS2 semapv:UnspecifiedMatching OMIM:605783 BCAS2 skos:exactMatch ncbigene:10286 semapv:UnspecifiedMatching -OMIM:605784 TTYH1 skos:exactMatch hgnc:TTYH1 semapv:UnspecifiedMatching +OMIM:605784 TTYH1 skos:exactMatch hgnc.symbol:13476 semapv:UnspecifiedMatching +OMIM:605784 TTYH1 skos:exactMatch hgnc.symbol:TTYH1 semapv:UnspecifiedMatching OMIM:605784 TTYH1 skos:exactMatch ncbigene:57348 semapv:UnspecifiedMatching -OMIM:605785 TUBG2 skos:exactMatch hgnc:TUBG2 semapv:UnspecifiedMatching +OMIM:605785 TUBG2 skos:exactMatch hgnc.symbol:12419 semapv:UnspecifiedMatching +OMIM:605785 TUBG2 skos:exactMatch hgnc.symbol:TUBG2 semapv:UnspecifiedMatching OMIM:605785 TUBG2 skos:exactMatch ncbigene:27175 semapv:UnspecifiedMatching -OMIM:605786 RBMS3 skos:exactMatch hgnc:RBMS3 semapv:UnspecifiedMatching +OMIM:605786 RBMS3 skos:exactMatch hgnc.symbol:13427 semapv:UnspecifiedMatching +OMIM:605786 RBMS3 skos:exactMatch hgnc.symbol:RBMS3 semapv:UnspecifiedMatching OMIM:605786 RBMS3 skos:exactMatch ncbigene:27303 semapv:UnspecifiedMatching OMIM:605787 ANKRA2 skos:exactMatch UMLS:C1421879 semapv:UnspecifiedMatching -OMIM:605787 ANKRA2 skos:exactMatch hgnc:ANKRA2 semapv:UnspecifiedMatching +OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:13208 semapv:UnspecifiedMatching +OMIM:605787 ANKRA2 skos:exactMatch hgnc.symbol:ANKRA2 semapv:UnspecifiedMatching OMIM:605787 ANKRA2 skos:exactMatch ncbigene:57763 semapv:UnspecifiedMatching -OMIM:605788 MAPRE3 skos:exactMatch hgnc:MAPRE3 semapv:UnspecifiedMatching +OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:6892 semapv:UnspecifiedMatching +OMIM:605788 MAPRE3 skos:exactMatch hgnc.symbol:MAPRE3 semapv:UnspecifiedMatching OMIM:605788 MAPRE3 skos:exactMatch ncbigene:22924 semapv:UnspecifiedMatching -OMIM:605789 MAPRE2 skos:exactMatch hgnc:MAPRE2 semapv:UnspecifiedMatching +OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:6891 semapv:UnspecifiedMatching +OMIM:605789 MAPRE2 skos:exactMatch hgnc.symbol:MAPRE2 semapv:UnspecifiedMatching OMIM:605789 MAPRE2 skos:exactMatch ncbigene:10982 semapv:UnspecifiedMatching -OMIM:605790 STK31 skos:exactMatch hgnc:STK31 semapv:UnspecifiedMatching +OMIM:605790 STK31 skos:exactMatch hgnc.symbol:11407 semapv:UnspecifiedMatching +OMIM:605790 STK31 skos:exactMatch hgnc.symbol:STK31 semapv:UnspecifiedMatching OMIM:605790 STK31 skos:exactMatch ncbigene:56164 semapv:UnspecifiedMatching -OMIM:605791 TEX12 skos:exactMatch hgnc:TEX12 semapv:UnspecifiedMatching +OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:11734 semapv:UnspecifiedMatching +OMIM:605791 TEX12 skos:exactMatch hgnc.symbol:TEX12 semapv:UnspecifiedMatching OMIM:605791 TEX12 skos:exactMatch ncbigene:56158 semapv:UnspecifiedMatching -OMIM:605792 TEX14 skos:exactMatch hgnc:TEX14 semapv:UnspecifiedMatching +OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:11737 semapv:UnspecifiedMatching +OMIM:605792 TEX14 skos:exactMatch hgnc.symbol:TEX14 semapv:UnspecifiedMatching OMIM:605792 TEX14 skos:exactMatch ncbigene:56155 semapv:UnspecifiedMatching -OMIM:605793 RNF17 skos:exactMatch hgnc:RNF17 semapv:UnspecifiedMatching +OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:10060 semapv:UnspecifiedMatching +OMIM:605793 RNF17 skos:exactMatch hgnc.symbol:RNF17 semapv:UnspecifiedMatching OMIM:605793 RNF17 skos:exactMatch ncbigene:56163 semapv:UnspecifiedMatching -OMIM:605794 MOV10L1 skos:exactMatch hgnc:MOV10L1 semapv:UnspecifiedMatching +OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:7201 semapv:UnspecifiedMatching +OMIM:605794 MOV10L1 skos:exactMatch hgnc.symbol:MOV10L1 semapv:UnspecifiedMatching OMIM:605794 MOV10L1 skos:exactMatch ncbigene:54456 semapv:UnspecifiedMatching -OMIM:605795 TEX15 skos:exactMatch hgnc:TEX15 semapv:UnspecifiedMatching +OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:11738 semapv:UnspecifiedMatching +OMIM:605795 TEX15 skos:exactMatch hgnc.symbol:TEX15 semapv:UnspecifiedMatching OMIM:605795 TEX15 skos:exactMatch ncbigene:56154 semapv:UnspecifiedMatching -OMIM:605796 TDRD1 skos:exactMatch hgnc:TDRD1 semapv:UnspecifiedMatching +OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:11712 semapv:UnspecifiedMatching +OMIM:605796 TDRD1 skos:exactMatch hgnc.symbol:TDRD1 semapv:UnspecifiedMatching OMIM:605796 TDRD1 skos:exactMatch ncbigene:56165 semapv:UnspecifiedMatching -OMIM:605797 ASZ1 skos:exactMatch hgnc:ASZ1 semapv:UnspecifiedMatching +OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:1350 semapv:UnspecifiedMatching +OMIM:605797 ASZ1 skos:exactMatch hgnc.symbol:ASZ1 semapv:UnspecifiedMatching OMIM:605797 ASZ1 skos:exactMatch ncbigene:136991 semapv:UnspecifiedMatching -OMIM:605798 NPDC1 skos:exactMatch hgnc:NPDC1 semapv:UnspecifiedMatching +OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:7899 semapv:UnspecifiedMatching +OMIM:605798 NPDC1 skos:exactMatch hgnc.symbol:NPDC1 semapv:UnspecifiedMatching OMIM:605798 NPDC1 skos:exactMatch ncbigene:56654 semapv:UnspecifiedMatching OMIM:605799 AMN skos:exactMatch UMLS:C1422785 semapv:UnspecifiedMatching OMIM:605799 AMN skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching -OMIM:605799 AMN skos:exactMatch hgnc:AMN semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch hgnc.symbol:14604 semapv:UnspecifiedMatching +OMIM:605799 AMN skos:exactMatch hgnc.symbol:AMN semapv:UnspecifiedMatching OMIM:605799 AMN skos:exactMatch ncbigene:81693 semapv:UnspecifiedMatching -OMIM:605800 HNRNPUL1 skos:exactMatch hgnc:HNRNPUL1 semapv:UnspecifiedMatching +OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:17011 semapv:UnspecifiedMatching +OMIM:605800 HNRNPUL1 skos:exactMatch hgnc.symbol:HNRNPUL1 semapv:UnspecifiedMatching OMIM:605800 HNRNPUL1 skos:exactMatch ncbigene:11100 semapv:UnspecifiedMatching -OMIM:605801 RALBP1 skos:exactMatch hgnc:RALBP1 semapv:UnspecifiedMatching +OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:9841 semapv:UnspecifiedMatching +OMIM:605801 RALBP1 skos:exactMatch hgnc.symbol:RALBP1 semapv:UnspecifiedMatching OMIM:605801 RALBP1 skos:exactMatch ncbigene:10928 semapv:UnspecifiedMatching -OMIM:605802 ZEB2 skos:exactMatch hgnc:ZEB2 semapv:UnspecifiedMatching +OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:14881 semapv:UnspecifiedMatching +OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:ZEB2 semapv:UnspecifiedMatching OMIM:605802 ZEB2 skos:exactMatch ncbigene:9839 semapv:UnspecifiedMatching -OMIM:605806 CDH7 skos:exactMatch hgnc:CDH7 semapv:UnspecifiedMatching +OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:1766 semapv:UnspecifiedMatching +OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:CDH7 semapv:UnspecifiedMatching OMIM:605806 CDH7 skos:exactMatch ncbigene:1005 semapv:UnspecifiedMatching -OMIM:605807 CDH20 skos:exactMatch hgnc:CDH20 semapv:UnspecifiedMatching +OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:1760 semapv:UnspecifiedMatching +OMIM:605807 CDH20 skos:exactMatch hgnc.symbol:CDH20 semapv:UnspecifiedMatching OMIM:605807 CDH20 skos:exactMatch ncbigene:28316 semapv:UnspecifiedMatching -OMIM:605810 MRPS22 skos:exactMatch hgnc:MRPS22 semapv:UnspecifiedMatching +OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:14508 semapv:UnspecifiedMatching +OMIM:605810 MRPS22 skos:exactMatch hgnc.symbol:MRPS22 semapv:UnspecifiedMatching OMIM:605810 MRPS22 skos:exactMatch ncbigene:56945 semapv:UnspecifiedMatching -OMIM:605811 NXT1 skos:exactMatch hgnc:NXT1 semapv:UnspecifiedMatching +OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:15913 semapv:UnspecifiedMatching +OMIM:605811 NXT1 skos:exactMatch hgnc.symbol:NXT1 semapv:UnspecifiedMatching OMIM:605811 NXT1 skos:exactMatch ncbigene:29107 semapv:UnspecifiedMatching OMIM:605812 DDX19B skos:exactMatch UMLS:C1824903 semapv:UnspecifiedMatching -OMIM:605812 DDX19B skos:exactMatch hgnc:DDX19B semapv:UnspecifiedMatching +OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:2742 semapv:UnspecifiedMatching +OMIM:605812 DDX19B skos:exactMatch hgnc.symbol:DDX19B semapv:UnspecifiedMatching OMIM:605812 DDX19B skos:exactMatch ncbigene:11269 semapv:UnspecifiedMatching -OMIM:605813 NUTF2 skos:exactMatch hgnc:NUTF2 semapv:UnspecifiedMatching +OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:13722 semapv:UnspecifiedMatching +OMIM:605813 NUTF2 skos:exactMatch hgnc.symbol:NUTF2 semapv:UnspecifiedMatching OMIM:605813 NUTF2 skos:exactMatch ncbigene:10204 semapv:UnspecifiedMatching +OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch Orphanet:247598 semapv:UnspecifiedMatching OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch UMLS:C1853942 semapv:UnspecifiedMatching -OMIM:605814 citrullinemia, iia ii, neonatal-onset skos:exactMatch orphanet.ordo:247598 semapv:UnspecifiedMatching -OMIM:605815 NUP62 skos:exactMatch hgnc:NUP62 semapv:UnspecifiedMatching +OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:8066 semapv:UnspecifiedMatching +OMIM:605815 NUP62 skos:exactMatch hgnc.symbol:NUP62 semapv:UnspecifiedMatching OMIM:605815 NUP62 skos:exactMatch ncbigene:23636 semapv:UnspecifiedMatching -OMIM:605816 EBI3 skos:exactMatch hgnc:EBI3 semapv:UnspecifiedMatching +OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:3129 semapv:UnspecifiedMatching +OMIM:605816 EBI3 skos:exactMatch hgnc.symbol:EBI3 semapv:UnspecifiedMatching OMIM:605816 EBI3 skos:exactMatch ncbigene:10148 semapv:UnspecifiedMatching -OMIM:605817 RIPK3 skos:exactMatch hgnc:RIPK3 semapv:UnspecifiedMatching +OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:10021 semapv:UnspecifiedMatching +OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:RIPK3 semapv:UnspecifiedMatching OMIM:605817 RIPK3 skos:exactMatch ncbigene:11035 semapv:UnspecifiedMatching -OMIM:605819 PES1 skos:exactMatch hgnc:PES1 semapv:UnspecifiedMatching +OMIM:605819 PES1 skos:exactMatch hgnc.symbol:8848 semapv:UnspecifiedMatching +OMIM:605819 PES1 skos:exactMatch hgnc.symbol:PES1 semapv:UnspecifiedMatching OMIM:605819 PES1 skos:exactMatch ncbigene:23481 semapv:UnspecifiedMatching -OMIM:605821 AHSP skos:exactMatch hgnc:AHSP semapv:UnspecifiedMatching +OMIM:605821 AHSP skos:exactMatch hgnc.symbol:18075 semapv:UnspecifiedMatching +OMIM:605821 AHSP skos:exactMatch hgnc.symbol:AHSP semapv:UnspecifiedMatching OMIM:605821 AHSP skos:exactMatch ncbigene:51327 semapv:UnspecifiedMatching -OMIM:605823 POPDC2 skos:exactMatch hgnc:POPDC2 semapv:UnspecifiedMatching +OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:17648 semapv:UnspecifiedMatching +OMIM:605823 POPDC2 skos:exactMatch hgnc.symbol:POPDC2 semapv:UnspecifiedMatching OMIM:605823 POPDC2 skos:exactMatch ncbigene:64091 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch UMLS:C1425025 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching -OMIM:605824 POPDC3 skos:exactMatch hgnc:POPDC3 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:17649 semapv:UnspecifiedMatching +OMIM:605824 POPDC3 skos:exactMatch hgnc.symbol:POPDC3 semapv:UnspecifiedMatching OMIM:605824 POPDC3 skos:exactMatch ncbigene:64208 semapv:UnspecifiedMatching -OMIM:605825 HEBP2 skos:exactMatch hgnc:HEBP2 semapv:UnspecifiedMatching +OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:15716 semapv:UnspecifiedMatching +OMIM:605825 HEBP2 skos:exactMatch hgnc.symbol:HEBP2 semapv:UnspecifiedMatching OMIM:605825 HEBP2 skos:exactMatch ncbigene:23593 semapv:UnspecifiedMatching OMIM:605826 HEBP1 skos:exactMatch UMLS:C1424798 semapv:UnspecifiedMatching -OMIM:605826 HEBP1 skos:exactMatch hgnc:HEBP1 semapv:UnspecifiedMatching +OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:17176 semapv:UnspecifiedMatching +OMIM:605826 HEBP1 skos:exactMatch hgnc.symbol:HEBP1 semapv:UnspecifiedMatching OMIM:605826 HEBP1 skos:exactMatch ncbigene:50865 semapv:UnspecifiedMatching -OMIM:605828 TMC6 skos:exactMatch hgnc:TMC6 semapv:UnspecifiedMatching +OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:18021 semapv:UnspecifiedMatching +OMIM:605828 TMC6 skos:exactMatch hgnc.symbol:TMC6 semapv:UnspecifiedMatching OMIM:605828 TMC6 skos:exactMatch ncbigene:11322 semapv:UnspecifiedMatching -OMIM:605829 TMC8 skos:exactMatch hgnc:TMC8 semapv:UnspecifiedMatching +OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:20474 semapv:UnspecifiedMatching +OMIM:605829 TMC8 skos:exactMatch hgnc.symbol:TMC8 semapv:UnspecifiedMatching OMIM:605829 TMC8 skos:exactMatch ncbigene:147138 semapv:UnspecifiedMatching -OMIM:605830 FGFRL1 skos:exactMatch hgnc:FGFRL1 semapv:UnspecifiedMatching +OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:3693 semapv:UnspecifiedMatching +OMIM:605830 FGFRL1 skos:exactMatch hgnc.symbol:FGFRL1 semapv:UnspecifiedMatching OMIM:605830 FGFRL1 skos:exactMatch ncbigene:53834 semapv:UnspecifiedMatching -OMIM:605831 FGF22 skos:exactMatch hgnc:FGF22 semapv:UnspecifiedMatching +OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:3679 semapv:UnspecifiedMatching +OMIM:605831 FGF22 skos:exactMatch hgnc.symbol:FGF22 semapv:UnspecifiedMatching OMIM:605831 FGF22 skos:exactMatch ncbigene:27006 semapv:UnspecifiedMatching OMIM:605832 ACSS2 skos:exactMatch UMLS:C1825842 semapv:UnspecifiedMatching -OMIM:605832 ACSS2 skos:exactMatch hgnc:ACSS2 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:15814 semapv:UnspecifiedMatching +OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:ACSS2 semapv:UnspecifiedMatching OMIM:605832 ACSS2 skos:exactMatch ncbigene:55902 semapv:UnspecifiedMatching -OMIM:605834 TMOD4 skos:exactMatch hgnc:TMOD4 semapv:UnspecifiedMatching +OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:11874 semapv:UnspecifiedMatching +OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:TMOD4 semapv:UnspecifiedMatching OMIM:605834 TMOD4 skos:exactMatch ncbigene:29765 semapv:UnspecifiedMatching -OMIM:605835 CEMIP2 skos:exactMatch hgnc:CEMIP2 semapv:UnspecifiedMatching +OMIM:605835 CEMIP2 skos:exactMatch hgnc.symbol:11869 semapv:UnspecifiedMatching +OMIM:605835 CEMIP2 skos:exactMatch hgnc.symbol:CEMIP2 semapv:UnspecifiedMatching OMIM:605835 CEMIP2 skos:exactMatch ncbigene:23670 semapv:UnspecifiedMatching -OMIM:605836 UNC13B skos:exactMatch hgnc:UNC13B semapv:UnspecifiedMatching +OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:12566 semapv:UnspecifiedMatching +OMIM:605836 UNC13B skos:exactMatch hgnc.symbol:UNC13B semapv:UnspecifiedMatching OMIM:605836 UNC13B skos:exactMatch ncbigene:10497 semapv:UnspecifiedMatching -OMIM:605837 HERC2 skos:exactMatch hgnc:HERC2 semapv:UnspecifiedMatching +OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:4868 semapv:UnspecifiedMatching +OMIM:605837 HERC2 skos:exactMatch hgnc.symbol:HERC2 semapv:UnspecifiedMatching OMIM:605837 HERC2 skos:exactMatch ncbigene:8924 semapv:UnspecifiedMatching -OMIM:605840 RNF111 skos:exactMatch hgnc:RNF111 semapv:UnspecifiedMatching +OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:17384 semapv:UnspecifiedMatching +OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:RNF111 semapv:UnspecifiedMatching OMIM:605840 RNF111 skos:exactMatch ncbigene:54778 semapv:UnspecifiedMatching -OMIM:605842 TBL2 skos:exactMatch hgnc:TBL2 semapv:UnspecifiedMatching +OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:11586 semapv:UnspecifiedMatching +OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:TBL2 semapv:UnspecifiedMatching OMIM:605842 TBL2 skos:exactMatch ncbigene:26608 semapv:UnspecifiedMatching -OMIM:605843 PECR skos:exactMatch hgnc:PECR semapv:UnspecifiedMatching +OMIM:605843 PECR skos:exactMatch hgnc.symbol:18281 semapv:UnspecifiedMatching +OMIM:605843 PECR skos:exactMatch hgnc.symbol:PECR semapv:UnspecifiedMatching OMIM:605843 PECR skos:exactMatch ncbigene:55825 semapv:UnspecifiedMatching -OMIM:605846 BCL7B skos:exactMatch hgnc:BCL7B semapv:UnspecifiedMatching +OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:1005 semapv:UnspecifiedMatching +OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:BCL7B semapv:UnspecifiedMatching OMIM:605846 BCL7B skos:exactMatch ncbigene:9275 semapv:UnspecifiedMatching -OMIM:605847 BCL7C skos:exactMatch hgnc:BCL7C semapv:UnspecifiedMatching +OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:1006 semapv:UnspecifiedMatching +OMIM:605847 BCL7C skos:exactMatch hgnc.symbol:BCL7C semapv:UnspecifiedMatching OMIM:605847 BCL7C skos:exactMatch ncbigene:9274 semapv:UnspecifiedMatching -OMIM:605848 CASP14 skos:exactMatch hgnc:CASP14 semapv:UnspecifiedMatching +OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:1502 semapv:UnspecifiedMatching +OMIM:605848 CASP14 skos:exactMatch hgnc.symbol:CASP14 semapv:UnspecifiedMatching OMIM:605848 CASP14 skos:exactMatch ncbigene:23581 semapv:UnspecifiedMatching -OMIM:605849 DMGDH skos:exactMatch hgnc:DMGDH semapv:UnspecifiedMatching +OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:24475 semapv:UnspecifiedMatching +OMIM:605849 DMGDH skos:exactMatch hgnc.symbol:DMGDH semapv:UnspecifiedMatching OMIM:605849 DMGDH skos:exactMatch ncbigene:29958 semapv:UnspecifiedMatching -OMIM:605851 ICMT skos:exactMatch hgnc:ICMT semapv:UnspecifiedMatching +OMIM:605851 ICMT skos:exactMatch hgnc.symbol:5350 semapv:UnspecifiedMatching +OMIM:605851 ICMT skos:exactMatch hgnc.symbol:ICMT semapv:UnspecifiedMatching OMIM:605851 ICMT skos:exactMatch ncbigene:23463 semapv:UnspecifiedMatching -OMIM:605852 CLASP1 skos:exactMatch hgnc:CLASP1 semapv:UnspecifiedMatching +OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:17088 semapv:UnspecifiedMatching +OMIM:605852 CLASP1 skos:exactMatch hgnc.symbol:CLASP1 semapv:UnspecifiedMatching OMIM:605852 CLASP1 skos:exactMatch ncbigene:23332 semapv:UnspecifiedMatching -OMIM:605853 CLASP2 skos:exactMatch hgnc:CLASP2 semapv:UnspecifiedMatching +OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:17078 semapv:UnspecifiedMatching +OMIM:605853 CLASP2 skos:exactMatch hgnc.symbol:CLASP2 semapv:UnspecifiedMatching OMIM:605853 CLASP2 skos:exactMatch ncbigene:23122 semapv:UnspecifiedMatching -OMIM:605854 BBC3 skos:exactMatch hgnc:BBC3 semapv:UnspecifiedMatching +OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:17868 semapv:UnspecifiedMatching +OMIM:605854 BBC3 skos:exactMatch hgnc.symbol:BBC3 semapv:UnspecifiedMatching OMIM:605854 BBC3 skos:exactMatch ncbigene:27113 semapv:UnspecifiedMatching -OMIM:605855 ATP10A skos:exactMatch hgnc:ATP10A semapv:UnspecifiedMatching +OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:13542 semapv:UnspecifiedMatching +OMIM:605855 ATP10A skos:exactMatch hgnc.symbol:ATP10A semapv:UnspecifiedMatching OMIM:605855 ATP10A skos:exactMatch ncbigene:57194 semapv:UnspecifiedMatching -OMIM:605857 RHOQ skos:exactMatch hgnc:RHOQ semapv:UnspecifiedMatching +OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:17736 semapv:UnspecifiedMatching +OMIM:605857 RHOQ skos:exactMatch hgnc.symbol:RHOQ semapv:UnspecifiedMatching OMIM:605857 RHOQ skos:exactMatch ncbigene:23433 semapv:UnspecifiedMatching -OMIM:605858 SCRT1 skos:exactMatch hgnc:SCRT1 semapv:UnspecifiedMatching +OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:15950 semapv:UnspecifiedMatching +OMIM:605858 SCRT1 skos:exactMatch hgnc.symbol:SCRT1 semapv:UnspecifiedMatching OMIM:605858 SCRT1 skos:exactMatch ncbigene:83482 semapv:UnspecifiedMatching -OMIM:605859 ZBTB32 skos:exactMatch hgnc:ZBTB32 semapv:UnspecifiedMatching +OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:16763 semapv:UnspecifiedMatching +OMIM:605859 ZBTB32 skos:exactMatch hgnc.symbol:ZBTB32 semapv:UnspecifiedMatching OMIM:605859 ZBTB32 skos:exactMatch ncbigene:27033 semapv:UnspecifiedMatching -OMIM:605860 RCAN3 skos:exactMatch hgnc:RCAN3 semapv:UnspecifiedMatching +OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:3042 semapv:UnspecifiedMatching +OMIM:605860 RCAN3 skos:exactMatch hgnc.symbol:RCAN3 semapv:UnspecifiedMatching OMIM:605860 RCAN3 skos:exactMatch ncbigene:11123 semapv:UnspecifiedMatching -OMIM:605861 CNPY2 skos:exactMatch hgnc:CNPY2 semapv:UnspecifiedMatching +OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:13529 semapv:UnspecifiedMatching +OMIM:605861 CNPY2 skos:exactMatch hgnc.symbol:CNPY2 semapv:UnspecifiedMatching OMIM:605861 CNPY2 skos:exactMatch ncbigene:10330 semapv:UnspecifiedMatching -OMIM:605862 RXYLT1 skos:exactMatch hgnc:RXYLT1 semapv:UnspecifiedMatching +OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:13530 semapv:UnspecifiedMatching +OMIM:605862 RXYLT1 skos:exactMatch hgnc.symbol:RXYLT1 semapv:UnspecifiedMatching OMIM:605862 RXYLT1 skos:exactMatch ncbigene:10329 semapv:UnspecifiedMatching -OMIM:605863 B3GNT3 skos:exactMatch hgnc:B3GNT3 semapv:UnspecifiedMatching +OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:13528 semapv:UnspecifiedMatching +OMIM:605863 B3GNT3 skos:exactMatch hgnc.symbol:B3GNT3 semapv:UnspecifiedMatching OMIM:605863 B3GNT3 skos:exactMatch ncbigene:10331 semapv:UnspecifiedMatching -OMIM:605864 B3GNT4 skos:exactMatch hgnc:B3GNT4 semapv:UnspecifiedMatching +OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:15683 semapv:UnspecifiedMatching +OMIM:605864 B3GNT4 skos:exactMatch hgnc.symbol:B3GNT4 semapv:UnspecifiedMatching OMIM:605864 B3GNT4 skos:exactMatch ncbigene:79369 semapv:UnspecifiedMatching -OMIM:605865 TAS1R3 skos:exactMatch hgnc:TAS1R3 semapv:UnspecifiedMatching +OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:15661 semapv:UnspecifiedMatching +OMIM:605865 TAS1R3 skos:exactMatch hgnc.symbol:TAS1R3 semapv:UnspecifiedMatching OMIM:605865 TAS1R3 skos:exactMatch ncbigene:83756 semapv:UnspecifiedMatching -OMIM:605866 ATP8B3 skos:exactMatch hgnc:ATP8B3 semapv:UnspecifiedMatching +OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:13535 semapv:UnspecifiedMatching +OMIM:605866 ATP8B3 skos:exactMatch hgnc.symbol:ATP8B3 semapv:UnspecifiedMatching OMIM:605866 ATP8B3 skos:exactMatch ncbigene:148229 semapv:UnspecifiedMatching -OMIM:605867 ATP8B2 skos:exactMatch hgnc:ATP8B2 semapv:UnspecifiedMatching +OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:13534 semapv:UnspecifiedMatching +OMIM:605867 ATP8B2 skos:exactMatch hgnc.symbol:ATP8B2 semapv:UnspecifiedMatching OMIM:605867 ATP8B2 skos:exactMatch ncbigene:57198 semapv:UnspecifiedMatching -OMIM:605868 ATP11A skos:exactMatch hgnc:ATP11A semapv:UnspecifiedMatching +OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:13552 semapv:UnspecifiedMatching +OMIM:605868 ATP11A skos:exactMatch hgnc.symbol:ATP11A semapv:UnspecifiedMatching OMIM:605868 ATP11A skos:exactMatch ncbigene:23250 semapv:UnspecifiedMatching -OMIM:605869 ATP11B skos:exactMatch hgnc:ATP11B semapv:UnspecifiedMatching +OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:13553 semapv:UnspecifiedMatching +OMIM:605869 ATP11B skos:exactMatch hgnc.symbol:ATP11B semapv:UnspecifiedMatching OMIM:605869 ATP11B skos:exactMatch ncbigene:23200 semapv:UnspecifiedMatching -OMIM:605870 ATP8A2 skos:exactMatch hgnc:ATP8A2 semapv:UnspecifiedMatching +OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:13533 semapv:UnspecifiedMatching +OMIM:605870 ATP8A2 skos:exactMatch hgnc.symbol:ATP8A2 semapv:UnspecifiedMatching OMIM:605870 ATP8A2 skos:exactMatch ncbigene:51761 semapv:UnspecifiedMatching -OMIM:605872 CLEC4M skos:exactMatch hgnc:CLEC4M semapv:UnspecifiedMatching +OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:13523 semapv:UnspecifiedMatching +OMIM:605872 CLEC4M skos:exactMatch hgnc.symbol:CLEC4M semapv:UnspecifiedMatching OMIM:605872 CLEC4M skos:exactMatch ncbigene:10332 semapv:UnspecifiedMatching -OMIM:605873 KCNK10 skos:exactMatch hgnc:KCNK10 semapv:UnspecifiedMatching +OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:6273 semapv:UnspecifiedMatching +OMIM:605873 KCNK10 skos:exactMatch hgnc.symbol:KCNK10 semapv:UnspecifiedMatching OMIM:605873 KCNK10 skos:exactMatch ncbigene:54207 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch UMLS:C1416601 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching -OMIM:605874 KCNK9 skos:exactMatch hgnc:KCNK9 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:6283 semapv:UnspecifiedMatching +OMIM:605874 KCNK9 skos:exactMatch hgnc.symbol:KCNK9 semapv:UnspecifiedMatching OMIM:605874 KCNK9 skos:exactMatch ncbigene:51305 semapv:UnspecifiedMatching -OMIM:605875 WASF2 skos:exactMatch hgnc:WASF2 semapv:UnspecifiedMatching +OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:12733 semapv:UnspecifiedMatching +OMIM:605875 WASF2 skos:exactMatch hgnc.symbol:WASF2 semapv:UnspecifiedMatching OMIM:605875 WASF2 skos:exactMatch ncbigene:10163 semapv:UnspecifiedMatching -OMIM:605876 FCRL4 skos:exactMatch hgnc:FCRL4 semapv:UnspecifiedMatching +OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:18507 semapv:UnspecifiedMatching +OMIM:605876 FCRL4 skos:exactMatch hgnc.symbol:FCRL4 semapv:UnspecifiedMatching OMIM:605876 FCRL4 skos:exactMatch ncbigene:83417 semapv:UnspecifiedMatching -OMIM:605877 FCRL5 skos:exactMatch hgnc:FCRL5 semapv:UnspecifiedMatching +OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:18508 semapv:UnspecifiedMatching +OMIM:605877 FCRL5 skos:exactMatch hgnc.symbol:FCRL5 semapv:UnspecifiedMatching OMIM:605877 FCRL5 skos:exactMatch ncbigene:83416 semapv:UnspecifiedMatching -OMIM:605878 ZBTB7A skos:exactMatch hgnc:ZBTB7A semapv:UnspecifiedMatching +OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:18078 semapv:UnspecifiedMatching +OMIM:605878 ZBTB7A skos:exactMatch hgnc.symbol:ZBTB7A semapv:UnspecifiedMatching OMIM:605878 ZBTB7A skos:exactMatch ncbigene:51341 semapv:UnspecifiedMatching -OMIM:605879 KCNN2 skos:exactMatch hgnc:KCNN2 semapv:UnspecifiedMatching +OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:6291 semapv:UnspecifiedMatching +OMIM:605879 KCNN2 skos:exactMatch hgnc.symbol:KCNN2 semapv:UnspecifiedMatching OMIM:605879 KCNN2 skos:exactMatch ncbigene:3781 semapv:UnspecifiedMatching OMIM:605880 KAT6B skos:exactMatch UMLS:C1425003 semapv:UnspecifiedMatching OMIM:605880 KAT6B skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching OMIM:605880 KAT6B skos:exactMatch UMLS:C1863557 semapv:UnspecifiedMatching -OMIM:605880 KAT6B skos:exactMatch hgnc:KAT6B semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:17582 semapv:UnspecifiedMatching +OMIM:605880 KAT6B skos:exactMatch hgnc.symbol:KAT6B semapv:UnspecifiedMatching OMIM:605880 KAT6B skos:exactMatch ncbigene:23522 semapv:UnspecifiedMatching -OMIM:605881 SLC35C1 skos:exactMatch hgnc:SLC35C1 semapv:UnspecifiedMatching +OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:20197 semapv:UnspecifiedMatching +OMIM:605881 SLC35C1 skos:exactMatch hgnc.symbol:SLC35C1 semapv:UnspecifiedMatching OMIM:605881 SLC35C1 skos:exactMatch ncbigene:55343 semapv:UnspecifiedMatching -OMIM:605882 BRIP1 skos:exactMatch hgnc:BRIP1 semapv:UnspecifiedMatching +OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:20473 semapv:UnspecifiedMatching +OMIM:605882 BRIP1 skos:exactMatch hgnc.symbol:BRIP1 semapv:UnspecifiedMatching OMIM:605882 BRIP1 skos:exactMatch ncbigene:83990 semapv:UnspecifiedMatching -OMIM:605883 LAMP3 skos:exactMatch hgnc:LAMP3 semapv:UnspecifiedMatching +OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:14582 semapv:UnspecifiedMatching +OMIM:605883 LAMP3 skos:exactMatch hgnc.symbol:LAMP3 semapv:UnspecifiedMatching OMIM:605883 LAMP3 skos:exactMatch ncbigene:27074 semapv:UnspecifiedMatching -OMIM:605884 DNAH10 skos:exactMatch hgnc:DNAH10 semapv:UnspecifiedMatching +OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:2941 semapv:UnspecifiedMatching +OMIM:605884 DNAH10 skos:exactMatch hgnc.symbol:DNAH10 semapv:UnspecifiedMatching OMIM:605884 DNAH10 skos:exactMatch ncbigene:196385 semapv:UnspecifiedMatching OMIM:605885 SEMA6A skos:exactMatch UMLS:C1419956 semapv:UnspecifiedMatching -OMIM:605885 SEMA6A skos:exactMatch hgnc:SEMA6A semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:10738 semapv:UnspecifiedMatching +OMIM:605885 SEMA6A skos:exactMatch hgnc.symbol:SEMA6A semapv:UnspecifiedMatching OMIM:605885 SEMA6A skos:exactMatch ncbigene:57556 semapv:UnspecifiedMatching -OMIM:605886 CR1L skos:exactMatch hgnc:CR1L semapv:UnspecifiedMatching +OMIM:605886 CR1L skos:exactMatch hgnc.symbol:2335 semapv:UnspecifiedMatching +OMIM:605886 CR1L skos:exactMatch hgnc.symbol:CR1L semapv:UnspecifiedMatching OMIM:605886 CR1L skos:exactMatch ncbigene:1379 semapv:UnspecifiedMatching -OMIM:605888 EHD1 skos:exactMatch hgnc:EHD1 semapv:UnspecifiedMatching +OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:3242 semapv:UnspecifiedMatching +OMIM:605888 EHD1 skos:exactMatch hgnc.symbol:EHD1 semapv:UnspecifiedMatching OMIM:605888 EHD1 skos:exactMatch ncbigene:10938 semapv:UnspecifiedMatching -OMIM:605889 PDLIM3 skos:exactMatch hgnc:PDLIM3 semapv:UnspecifiedMatching +OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:20767 semapv:UnspecifiedMatching +OMIM:605889 PDLIM3 skos:exactMatch hgnc.symbol:PDLIM3 semapv:UnspecifiedMatching OMIM:605889 PDLIM3 skos:exactMatch ncbigene:27295 semapv:UnspecifiedMatching -OMIM:605890 EHD2 skos:exactMatch hgnc:EHD2 semapv:UnspecifiedMatching +OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:3243 semapv:UnspecifiedMatching +OMIM:605890 EHD2 skos:exactMatch hgnc.symbol:EHD2 semapv:UnspecifiedMatching OMIM:605890 EHD2 skos:exactMatch ncbigene:30846 semapv:UnspecifiedMatching -OMIM:605891 EHD3 skos:exactMatch hgnc:EHD3 semapv:UnspecifiedMatching +OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:3244 semapv:UnspecifiedMatching +OMIM:605891 EHD3 skos:exactMatch hgnc.symbol:EHD3 semapv:UnspecifiedMatching OMIM:605891 EHD3 skos:exactMatch ncbigene:30845 semapv:UnspecifiedMatching -OMIM:605892 EHD4 skos:exactMatch hgnc:EHD4 semapv:UnspecifiedMatching +OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:3245 semapv:UnspecifiedMatching +OMIM:605892 EHD4 skos:exactMatch hgnc.symbol:EHD4 semapv:UnspecifiedMatching OMIM:605892 EHD4 skos:exactMatch ncbigene:30844 semapv:UnspecifiedMatching -OMIM:605893 CDIPT skos:exactMatch hgnc:CDIPT semapv:UnspecifiedMatching +OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:1769 semapv:UnspecifiedMatching +OMIM:605893 CDIPT skos:exactMatch hgnc.symbol:CDIPT semapv:UnspecifiedMatching OMIM:605893 CDIPT skos:exactMatch ncbigene:10423 semapv:UnspecifiedMatching -OMIM:605894 EID1 skos:exactMatch hgnc:EID1 semapv:UnspecifiedMatching +OMIM:605894 EID1 skos:exactMatch hgnc.symbol:1191 semapv:UnspecifiedMatching +OMIM:605894 EID1 skos:exactMatch hgnc.symbol:EID1 semapv:UnspecifiedMatching OMIM:605894 EID1 skos:exactMatch ncbigene:23741 semapv:UnspecifiedMatching -OMIM:605895 EIF4E2 skos:exactMatch hgnc:EIF4E2 semapv:UnspecifiedMatching +OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:3293 semapv:UnspecifiedMatching +OMIM:605895 EIF4E2 skos:exactMatch hgnc.symbol:EIF4E2 semapv:UnspecifiedMatching OMIM:605895 EIF4E2 skos:exactMatch ncbigene:9470 semapv:UnspecifiedMatching -OMIM:605896 ECEL1 skos:exactMatch hgnc:ECEL1 semapv:UnspecifiedMatching +OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:3147 semapv:UnspecifiedMatching +OMIM:605896 ECEL1 skos:exactMatch hgnc.symbol:ECEL1 semapv:UnspecifiedMatching OMIM:605896 ECEL1 skos:exactMatch ncbigene:9427 semapv:UnspecifiedMatching -OMIM:605897 UGGT1 skos:exactMatch hgnc:UGGT1 semapv:UnspecifiedMatching +OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:15663 semapv:UnspecifiedMatching +OMIM:605897 UGGT1 skos:exactMatch hgnc.symbol:UGGT1 semapv:UnspecifiedMatching OMIM:605897 UGGT1 skos:exactMatch ncbigene:56886 semapv:UnspecifiedMatching -OMIM:605898 UGGT2 skos:exactMatch hgnc:UGGT2 semapv:UnspecifiedMatching +OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:15664 semapv:UnspecifiedMatching +OMIM:605898 UGGT2 skos:exactMatch hgnc.symbol:UGGT2 semapv:UnspecifiedMatching OMIM:605898 UGGT2 skos:exactMatch ncbigene:55757 semapv:UnspecifiedMatching -OMIM:605900 PDLIM1 skos:exactMatch hgnc:PDLIM1 semapv:UnspecifiedMatching +OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:2067 semapv:UnspecifiedMatching +OMIM:605900 PDLIM1 skos:exactMatch hgnc.symbol:PDLIM1 semapv:UnspecifiedMatching OMIM:605900 PDLIM1 skos:exactMatch ncbigene:9124 semapv:UnspecifiedMatching -OMIM:605901 UCN3 skos:exactMatch hgnc:UCN3 semapv:UnspecifiedMatching +OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:17781 semapv:UnspecifiedMatching +OMIM:605901 UCN3 skos:exactMatch hgnc.symbol:UCN3 semapv:UnspecifiedMatching OMIM:605901 UCN3 skos:exactMatch ncbigene:114131 semapv:UnspecifiedMatching -OMIM:605902 UCN2 skos:exactMatch hgnc:UCN2 semapv:UnspecifiedMatching +OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:18414 semapv:UnspecifiedMatching +OMIM:605902 UCN2 skos:exactMatch hgnc.symbol:UCN2 semapv:UnspecifiedMatching OMIM:605902 UCN2 skos:exactMatch ncbigene:90226 semapv:UnspecifiedMatching -OMIM:605903 PDLIM7 skos:exactMatch hgnc:PDLIM7 semapv:UnspecifiedMatching +OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:22958 semapv:UnspecifiedMatching +OMIM:605903 PDLIM7 skos:exactMatch hgnc.symbol:PDLIM7 semapv:UnspecifiedMatching OMIM:605903 PDLIM7 skos:exactMatch ncbigene:9260 semapv:UnspecifiedMatching -OMIM:605904 PDLIM5 skos:exactMatch hgnc:PDLIM5 semapv:UnspecifiedMatching +OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:17468 semapv:UnspecifiedMatching +OMIM:605904 PDLIM5 skos:exactMatch hgnc.symbol:PDLIM5 semapv:UnspecifiedMatching OMIM:605904 PDLIM5 skos:exactMatch ncbigene:10611 semapv:UnspecifiedMatching -OMIM:605905 DCUN1D1 skos:exactMatch hgnc:DCUN1D1 semapv:UnspecifiedMatching +OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:18184 semapv:UnspecifiedMatching +OMIM:605905 DCUN1D1 skos:exactMatch hgnc.symbol:DCUN1D1 semapv:UnspecifiedMatching OMIM:605905 DCUN1D1 skos:exactMatch ncbigene:54165 semapv:UnspecifiedMatching -OMIM:605906 LDB3 skos:exactMatch hgnc:LDB3 semapv:UnspecifiedMatching +OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:15710 semapv:UnspecifiedMatching +OMIM:605906 LDB3 skos:exactMatch hgnc.symbol:LDB3 semapv:UnspecifiedMatching OMIM:605906 LDB3 skos:exactMatch ncbigene:11155 semapv:UnspecifiedMatching OMIM:605907 ALG1 skos:exactMatch UMLS:C1425428 semapv:UnspecifiedMatching OMIM:605907 ALG1 skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching -OMIM:605907 ALG1 skos:exactMatch hgnc:ALG1 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:18294 semapv:UnspecifiedMatching +OMIM:605907 ALG1 skos:exactMatch hgnc.symbol:ALG1 semapv:UnspecifiedMatching OMIM:605907 ALG1 skos:exactMatch ncbigene:56052 semapv:UnspecifiedMatching -OMIM:605908 MLC1 skos:exactMatch hgnc:MLC1 semapv:UnspecifiedMatching +OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:17082 semapv:UnspecifiedMatching +OMIM:605908 MLC1 skos:exactMatch hgnc.symbol:MLC1 semapv:UnspecifiedMatching OMIM:605908 MLC1 skos:exactMatch ncbigene:23209 semapv:UnspecifiedMatching OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C1423931 semapv:UnspecifiedMatching OMIM:605910 ANGPTL4 skos:exactMatch UMLS:C4016952 semapv:UnspecifiedMatching -OMIM:605910 ANGPTL4 skos:exactMatch hgnc:ANGPTL4 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:16039 semapv:UnspecifiedMatching +OMIM:605910 ANGPTL4 skos:exactMatch hgnc.symbol:ANGPTL4 semapv:UnspecifiedMatching OMIM:605910 ANGPTL4 skos:exactMatch ncbigene:51129 semapv:UnspecifiedMatching -OMIM:605912 MEPE skos:exactMatch hgnc:MEPE semapv:UnspecifiedMatching +OMIM:605912 MEPE skos:exactMatch hgnc.symbol:13361 semapv:UnspecifiedMatching +OMIM:605912 MEPE skos:exactMatch hgnc.symbol:MEPE semapv:UnspecifiedMatching OMIM:605912 MEPE skos:exactMatch ncbigene:56955 semapv:UnspecifiedMatching -OMIM:605914 TNFRSF12A skos:exactMatch hgnc:TNFRSF12A semapv:UnspecifiedMatching +OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:18152 semapv:UnspecifiedMatching +OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:TNFRSF12A semapv:UnspecifiedMatching OMIM:605914 TNFRSF12A skos:exactMatch ncbigene:51330 semapv:UnspecifiedMatching -OMIM:605915 TBL3 skos:exactMatch hgnc:TBL3 semapv:UnspecifiedMatching +OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:11587 semapv:UnspecifiedMatching +OMIM:605915 TBL3 skos:exactMatch hgnc.symbol:TBL3 semapv:UnspecifiedMatching OMIM:605915 TBL3 skos:exactMatch ncbigene:10607 semapv:UnspecifiedMatching -OMIM:605916 SPTBN5 skos:exactMatch hgnc:SPTBN5 semapv:UnspecifiedMatching +OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:15680 semapv:UnspecifiedMatching +OMIM:605916 SPTBN5 skos:exactMatch hgnc.symbol:SPTBN5 semapv:UnspecifiedMatching OMIM:605916 SPTBN5 skos:exactMatch ncbigene:51332 semapv:UnspecifiedMatching OMIM:605917 TPX2 skos:exactMatch UMLS:C1412939 semapv:UnspecifiedMatching -OMIM:605917 TPX2 skos:exactMatch hgnc:TPX2 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:1249 semapv:UnspecifiedMatching +OMIM:605917 TPX2 skos:exactMatch hgnc.symbol:TPX2 semapv:UnspecifiedMatching OMIM:605917 TPX2 skos:exactMatch ncbigene:22974 semapv:UnspecifiedMatching -OMIM:605918 SPON2 skos:exactMatch hgnc:SPON2 semapv:UnspecifiedMatching +OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:11253 semapv:UnspecifiedMatching +OMIM:605918 SPON2 skos:exactMatch hgnc.symbol:SPON2 semapv:UnspecifiedMatching OMIM:605918 SPON2 skos:exactMatch ncbigene:10417 semapv:UnspecifiedMatching OMIM:605920 STAU2 skos:exactMatch UMLS:C1420457 semapv:UnspecifiedMatching -OMIM:605920 STAU2 skos:exactMatch hgnc:STAU2 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:11371 semapv:UnspecifiedMatching +OMIM:605920 STAU2 skos:exactMatch hgnc.symbol:STAU2 semapv:UnspecifiedMatching OMIM:605920 STAU2 skos:exactMatch ncbigene:27067 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C1335879 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C1861451 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C2748557 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch UMLS:C4011726 semapv:UnspecifiedMatching -OMIM:605921 STIM1 skos:exactMatch hgnc:STIM1 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:11386 semapv:UnspecifiedMatching +OMIM:605921 STIM1 skos:exactMatch hgnc.symbol:STIM1 semapv:UnspecifiedMatching OMIM:605921 STIM1 skos:exactMatch ncbigene:6786 semapv:UnspecifiedMatching -OMIM:605922 IMPA2 skos:exactMatch hgnc:IMPA2 semapv:UnspecifiedMatching +OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:6051 semapv:UnspecifiedMatching +OMIM:605922 IMPA2 skos:exactMatch hgnc.symbol:IMPA2 semapv:UnspecifiedMatching OMIM:605922 IMPA2 skos:exactMatch ncbigene:3613 semapv:UnspecifiedMatching OMIM:605923 SOX8 skos:exactMatch UMLS:C1420330 semapv:UnspecifiedMatching OMIM:605923 SOX8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:605923 SOX8 skos:exactMatch hgnc:SOX8 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:11203 semapv:UnspecifiedMatching +OMIM:605923 SOX8 skos:exactMatch hgnc.symbol:SOX8 semapv:UnspecifiedMatching OMIM:605923 SOX8 skos:exactMatch ncbigene:30812 semapv:UnspecifiedMatching -OMIM:605924 WDR4 skos:exactMatch hgnc:WDR4 semapv:UnspecifiedMatching +OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:12756 semapv:UnspecifiedMatching +OMIM:605924 WDR4 skos:exactMatch hgnc.symbol:WDR4 semapv:UnspecifiedMatching OMIM:605924 WDR4 skos:exactMatch ncbigene:10785 semapv:UnspecifiedMatching -OMIM:605925 PCNT skos:exactMatch hgnc:PCNT semapv:UnspecifiedMatching +OMIM:605925 PCNT skos:exactMatch hgnc.symbol:16068 semapv:UnspecifiedMatching +OMIM:605925 PCNT skos:exactMatch hgnc.symbol:PCNT semapv:UnspecifiedMatching OMIM:605925 PCNT skos:exactMatch ncbigene:5116 semapv:UnspecifiedMatching -OMIM:605926 PICK1 skos:exactMatch hgnc:PICK1 semapv:UnspecifiedMatching +OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:9394 semapv:UnspecifiedMatching +OMIM:605926 PICK1 skos:exactMatch hgnc.symbol:PICK1 semapv:UnspecifiedMatching OMIM:605926 PICK1 skos:exactMatch ncbigene:9463 semapv:UnspecifiedMatching -OMIM:605927 MDM2BP skos:exactMatch hgnc:MTBP semapv:UnspecifiedMatching +OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:7417 semapv:UnspecifiedMatching +OMIM:605927 MDM2BP skos:exactMatch hgnc.symbol:MTBP semapv:UnspecifiedMatching OMIM:605927 MDM2BP skos:exactMatch ncbigene:27085 semapv:UnspecifiedMatching -OMIM:605928 ARFIP1 skos:exactMatch hgnc:ARFIP1 semapv:UnspecifiedMatching +OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:21496 semapv:UnspecifiedMatching +OMIM:605928 ARFIP1 skos:exactMatch hgnc.symbol:ARFIP1 semapv:UnspecifiedMatching OMIM:605928 ARFIP1 skos:exactMatch ncbigene:27236 semapv:UnspecifiedMatching -OMIM:605929 SNX2 skos:exactMatch hgnc:SNX2 semapv:UnspecifiedMatching +OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:11173 semapv:UnspecifiedMatching +OMIM:605929 SNX2 skos:exactMatch hgnc.symbol:SNX2 semapv:UnspecifiedMatching OMIM:605929 SNX2 skos:exactMatch ncbigene:6643 semapv:UnspecifiedMatching -OMIM:605930 SNX3 skos:exactMatch hgnc:SNX3 semapv:UnspecifiedMatching +OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:11174 semapv:UnspecifiedMatching +OMIM:605930 SNX3 skos:exactMatch hgnc.symbol:SNX3 semapv:UnspecifiedMatching OMIM:605930 SNX3 skos:exactMatch ncbigene:8724 semapv:UnspecifiedMatching -OMIM:605931 SNX4 skos:exactMatch hgnc:SNX4 semapv:UnspecifiedMatching +OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:11175 semapv:UnspecifiedMatching +OMIM:605931 SNX4 skos:exactMatch hgnc.symbol:SNX4 semapv:UnspecifiedMatching OMIM:605931 SNX4 skos:exactMatch ncbigene:8723 semapv:UnspecifiedMatching -OMIM:605932 BHMT2 skos:exactMatch hgnc:BHMT2 semapv:UnspecifiedMatching +OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:1048 semapv:UnspecifiedMatching +OMIM:605932 BHMT2 skos:exactMatch hgnc.symbol:BHMT2 semapv:UnspecifiedMatching OMIM:605932 BHMT2 skos:exactMatch ncbigene:23743 semapv:UnspecifiedMatching -OMIM:605933 DCSTAMP skos:exactMatch hgnc:DCSTAMP semapv:UnspecifiedMatching +OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:18549 semapv:UnspecifiedMatching +OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:DCSTAMP semapv:UnspecifiedMatching OMIM:605933 DCSTAMP skos:exactMatch ncbigene:81501 semapv:UnspecifiedMatching -OMIM:605936 BIN2 skos:exactMatch hgnc:BIN2 semapv:UnspecifiedMatching +OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:1053 semapv:UnspecifiedMatching +OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:BIN2 semapv:UnspecifiedMatching OMIM:605936 BIN2 skos:exactMatch ncbigene:51411 semapv:UnspecifiedMatching -OMIM:605937 SNX5 skos:exactMatch hgnc:SNX5 semapv:UnspecifiedMatching +OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:14969 semapv:UnspecifiedMatching +OMIM:605937 SNX5 skos:exactMatch hgnc.symbol:SNX5 semapv:UnspecifiedMatching OMIM:605937 SNX5 skos:exactMatch ncbigene:27131 semapv:UnspecifiedMatching OMIM:605938 PIGP skos:exactMatch UMLS:C1826586 semapv:UnspecifiedMatching OMIM:605938 PIGP skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching -OMIM:605938 PIGP skos:exactMatch hgnc:PIGP semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch hgnc.symbol:3046 semapv:UnspecifiedMatching +OMIM:605938 PIGP skos:exactMatch hgnc.symbol:PIGP semapv:UnspecifiedMatching OMIM:605938 PIGP skos:exactMatch ncbigene:51227 semapv:UnspecifiedMatching -OMIM:605939 PLCD4 skos:exactMatch hgnc:PLCD4 semapv:UnspecifiedMatching +OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:9062 semapv:UnspecifiedMatching +OMIM:605939 PLCD4 skos:exactMatch hgnc.symbol:PLCD4 semapv:UnspecifiedMatching OMIM:605939 PLCD4 skos:exactMatch ncbigene:84812 semapv:UnspecifiedMatching -OMIM:605940 BASP1 skos:exactMatch hgnc:BASP1 semapv:UnspecifiedMatching +OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:957 semapv:UnspecifiedMatching +OMIM:605940 BASP1 skos:exactMatch hgnc.symbol:BASP1 semapv:UnspecifiedMatching OMIM:605940 BASP1 skos:exactMatch ncbigene:10409 semapv:UnspecifiedMatching -OMIM:605941 SART1 skos:exactMatch hgnc:SART1 semapv:UnspecifiedMatching +OMIM:605941 SART1 skos:exactMatch hgnc.symbol:10538 semapv:UnspecifiedMatching +OMIM:605941 SART1 skos:exactMatch hgnc.symbol:SART1 semapv:UnspecifiedMatching OMIM:605941 SART1 skos:exactMatch ncbigene:9092 semapv:UnspecifiedMatching -OMIM:605942 DSE skos:exactMatch hgnc:DSE semapv:UnspecifiedMatching +OMIM:605942 DSE skos:exactMatch hgnc.symbol:21144 semapv:UnspecifiedMatching +OMIM:605942 DSE skos:exactMatch hgnc.symbol:DSE semapv:UnspecifiedMatching OMIM:605942 DSE skos:exactMatch ncbigene:29940 semapv:UnspecifiedMatching -OMIM:605943 GDE1 skos:exactMatch hgnc:GDE1 semapv:UnspecifiedMatching +OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:29644 semapv:UnspecifiedMatching +OMIM:605943 GDE1 skos:exactMatch hgnc.symbol:GDE1 semapv:UnspecifiedMatching OMIM:605943 GDE1 skos:exactMatch ncbigene:51573 semapv:UnspecifiedMatching -OMIM:605947 PIGL skos:exactMatch hgnc:PIGL semapv:UnspecifiedMatching +OMIM:605947 PIGL skos:exactMatch hgnc.symbol:8966 semapv:UnspecifiedMatching +OMIM:605947 PIGL skos:exactMatch hgnc.symbol:PIGL semapv:UnspecifiedMatching OMIM:605947 PIGL skos:exactMatch ncbigene:9487 semapv:UnspecifiedMatching -OMIM:605948 GPRC5B skos:exactMatch hgnc:GPRC5B semapv:UnspecifiedMatching +OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:13308 semapv:UnspecifiedMatching +OMIM:605948 GPRC5B skos:exactMatch hgnc.symbol:GPRC5B semapv:UnspecifiedMatching OMIM:605948 GPRC5B skos:exactMatch ncbigene:51704 semapv:UnspecifiedMatching -OMIM:605949 GPRC5C skos:exactMatch hgnc:GPRC5C semapv:UnspecifiedMatching +OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:13309 semapv:UnspecifiedMatching +OMIM:605949 GPRC5C skos:exactMatch hgnc.symbol:GPRC5C semapv:UnspecifiedMatching OMIM:605949 GPRC5C skos:exactMatch ncbigene:55890 semapv:UnspecifiedMatching -OMIM:605950 RAB33B skos:exactMatch hgnc:RAB33B semapv:UnspecifiedMatching +OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:16075 semapv:UnspecifiedMatching +OMIM:605950 RAB33B skos:exactMatch hgnc.symbol:RAB33B semapv:UnspecifiedMatching OMIM:605950 RAB33B skos:exactMatch ncbigene:83452 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch UMLS:C1414139 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching -OMIM:605951 DPM3 skos:exactMatch hgnc:DPM3 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:3007 semapv:UnspecifiedMatching +OMIM:605951 DPM3 skos:exactMatch hgnc.symbol:DPM3 semapv:UnspecifiedMatching OMIM:605951 DPM3 skos:exactMatch ncbigene:54344 semapv:UnspecifiedMatching OMIM:605952 SNX9 skos:exactMatch UMLS:C1423100 semapv:UnspecifiedMatching -OMIM:605952 SNX9 skos:exactMatch hgnc:SNX9 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:14973 semapv:UnspecifiedMatching +OMIM:605952 SNX9 skos:exactMatch hgnc.symbol:SNX9 semapv:UnspecifiedMatching OMIM:605952 SNX9 skos:exactMatch ncbigene:51429 semapv:UnspecifiedMatching -OMIM:605953 ASAP1 skos:exactMatch hgnc:ASAP1 semapv:UnspecifiedMatching +OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:2720 semapv:UnspecifiedMatching +OMIM:605953 ASAP1 skos:exactMatch hgnc.symbol:ASAP1 semapv:UnspecifiedMatching OMIM:605953 ASAP1 skos:exactMatch ncbigene:50807 semapv:UnspecifiedMatching -OMIM:605954 FETUB skos:exactMatch hgnc:FETUB semapv:UnspecifiedMatching +OMIM:605954 FETUB skos:exactMatch hgnc.symbol:3658 semapv:UnspecifiedMatching +OMIM:605954 FETUB skos:exactMatch hgnc.symbol:FETUB semapv:UnspecifiedMatching OMIM:605954 FETUB skos:exactMatch ncbigene:26998 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch UMLS:C1426161 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch UMLS:C4479653 semapv:UnspecifiedMatching -OMIM:605955 NKX6-2 skos:exactMatch hgnc:NKX6-2 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:19321 semapv:UnspecifiedMatching +OMIM:605955 NKX6-2 skos:exactMatch hgnc.symbol:NKX6-2 semapv:UnspecifiedMatching OMIM:605955 NKX6-2 skos:exactMatch ncbigene:84504 semapv:UnspecifiedMatching -OMIM:605956 NOD2 skos:exactMatch hgnc:NOD2 semapv:UnspecifiedMatching +OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:5331 semapv:UnspecifiedMatching +OMIM:605956 NOD2 skos:exactMatch hgnc.symbol:NOD2 semapv:UnspecifiedMatching OMIM:605956 NOD2 skos:exactMatch ncbigene:64127 semapv:UnspecifiedMatching -OMIM:605958 TRAIP skos:exactMatch hgnc:TRAIP semapv:UnspecifiedMatching +OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:30764 semapv:UnspecifiedMatching +OMIM:605958 TRAIP skos:exactMatch hgnc.symbol:TRAIP semapv:UnspecifiedMatching OMIM:605958 TRAIP skos:exactMatch ncbigene:10293 semapv:UnspecifiedMatching OMIM:605959 hr44 antigen skos:exactMatch UMLS:C1853813 semapv:UnspecifiedMatching -OMIM:605960 EXOSC10 skos:exactMatch hgnc:EXOSC10 semapv:UnspecifiedMatching +OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:9138 semapv:UnspecifiedMatching +OMIM:605960 EXOSC10 skos:exactMatch hgnc.symbol:EXOSC10 semapv:UnspecifiedMatching OMIM:605960 EXOSC10 skos:exactMatch ncbigene:5394 semapv:UnspecifiedMatching -OMIM:605961 PLRG1 skos:exactMatch hgnc:PLRG1 semapv:UnspecifiedMatching +OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:9089 semapv:UnspecifiedMatching +OMIM:605961 PLRG1 skos:exactMatch hgnc.symbol:PLRG1 semapv:UnspecifiedMatching OMIM:605961 PLRG1 skos:exactMatch ncbigene:5356 semapv:UnspecifiedMatching -OMIM:605962 RABEPK skos:exactMatch hgnc:RABEPK semapv:UnspecifiedMatching +OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:16896 semapv:UnspecifiedMatching +OMIM:605962 RABEPK skos:exactMatch hgnc.symbol:RABEPK semapv:UnspecifiedMatching OMIM:605962 RABEPK skos:exactMatch ncbigene:10244 semapv:UnspecifiedMatching OMIM:605963 SNX17 skos:exactMatch UMLS:C1423106 semapv:UnspecifiedMatching -OMIM:605963 SNX17 skos:exactMatch hgnc:SNX17 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:14979 semapv:UnspecifiedMatching +OMIM:605963 SNX17 skos:exactMatch hgnc.symbol:SNX17 semapv:UnspecifiedMatching OMIM:605963 SNX17 skos:exactMatch ncbigene:9784 semapv:UnspecifiedMatching -OMIM:605964 SNX15 skos:exactMatch hgnc:SNX15 semapv:UnspecifiedMatching +OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:14978 semapv:UnspecifiedMatching +OMIM:605964 SNX15 skos:exactMatch hgnc.symbol:SNX15 semapv:UnspecifiedMatching OMIM:605964 SNX15 skos:exactMatch ncbigene:29907 semapv:UnspecifiedMatching -OMIM:605965 RIN1 skos:exactMatch hgnc:RIN1 semapv:UnspecifiedMatching +OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:18749 semapv:UnspecifiedMatching +OMIM:605965 RIN1 skos:exactMatch hgnc.symbol:RIN1 semapv:UnspecifiedMatching OMIM:605965 RIN1 skos:exactMatch ncbigene:9610 semapv:UnspecifiedMatching -OMIM:605966 HNF4G skos:exactMatch hgnc:HNF4G semapv:UnspecifiedMatching +OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:5026 semapv:UnspecifiedMatching +OMIM:605966 HNF4G skos:exactMatch hgnc.symbol:HNF4G semapv:UnspecifiedMatching OMIM:605966 HNF4G skos:exactMatch ncbigene:3174 semapv:UnspecifiedMatching +OMIM:605967 acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching OMIM:605967 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching -OMIM:605967 acropectoral syndrome skos:exactMatch orphanet.ordo:85203 semapv:UnspecifiedMatching -OMIM:605968 RFPL1 skos:exactMatch hgnc:RFPL1 semapv:UnspecifiedMatching +OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:9977 semapv:UnspecifiedMatching +OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:RFPL1 semapv:UnspecifiedMatching OMIM:605968 RFPL1 skos:exactMatch ncbigene:5988 semapv:UnspecifiedMatching -OMIM:605969 RFPL2 skos:exactMatch hgnc:RFPL2 semapv:UnspecifiedMatching +OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:9979 semapv:UnspecifiedMatching +OMIM:605969 RFPL2 skos:exactMatch hgnc.symbol:RFPL2 semapv:UnspecifiedMatching OMIM:605969 RFPL2 skos:exactMatch ncbigene:10739 semapv:UnspecifiedMatching -OMIM:605970 RFPL3 skos:exactMatch hgnc:RFPL3 semapv:UnspecifiedMatching +OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:9980 semapv:UnspecifiedMatching +OMIM:605970 RFPL3 skos:exactMatch hgnc.symbol:RFPL3 semapv:UnspecifiedMatching OMIM:605970 RFPL3 skos:exactMatch ncbigene:10738 semapv:UnspecifiedMatching -OMIM:605971 RFPL3S skos:exactMatch hgnc:RFPL3S semapv:UnspecifiedMatching +OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:9981 semapv:UnspecifiedMatching +OMIM:605971 RFPL3S skos:exactMatch hgnc.symbol:RFPL3S semapv:UnspecifiedMatching OMIM:605971 RFPL3S skos:exactMatch ncbigene:10737 semapv:UnspecifiedMatching -OMIM:605972 RFPL1S skos:exactMatch hgnc:RFPL1S semapv:UnspecifiedMatching +OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:9978 semapv:UnspecifiedMatching +OMIM:605972 RFPL1S skos:exactMatch hgnc.symbol:RFPL1S semapv:UnspecifiedMatching OMIM:605972 RFPL1S skos:exactMatch ncbigene:10740 semapv:UnspecifiedMatching -OMIM:605973 DCAF7 skos:exactMatch hgnc:DCAF7 semapv:UnspecifiedMatching +OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:30915 semapv:UnspecifiedMatching +OMIM:605973 DCAF7 skos:exactMatch hgnc.symbol:DCAF7 semapv:UnspecifiedMatching OMIM:605973 DCAF7 skos:exactMatch ncbigene:10238 semapv:UnspecifiedMatching -OMIM:605974 SLU7 skos:exactMatch hgnc:SLU7 semapv:UnspecifiedMatching +OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:16939 semapv:UnspecifiedMatching +OMIM:605974 SLU7 skos:exactMatch hgnc.symbol:SLU7 semapv:UnspecifiedMatching OMIM:605974 SLU7 skos:exactMatch ncbigene:10569 semapv:UnspecifiedMatching -OMIM:605975 SRRM1 skos:exactMatch hgnc:SRRM1 semapv:UnspecifiedMatching +OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:16638 semapv:UnspecifiedMatching +OMIM:605975 SRRM1 skos:exactMatch hgnc.symbol:SRRM1 semapv:UnspecifiedMatching OMIM:605975 SRRM1 skos:exactMatch ncbigene:10250 semapv:UnspecifiedMatching -OMIM:605976 ZBTB6 skos:exactMatch hgnc:ZBTB6 semapv:UnspecifiedMatching +OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:16764 semapv:UnspecifiedMatching +OMIM:605976 ZBTB6 skos:exactMatch hgnc.symbol:ZBTB6 semapv:UnspecifiedMatching OMIM:605976 ZBTB6 skos:exactMatch ncbigene:10773 semapv:UnspecifiedMatching OMIM:605977 IMMP2L skos:exactMatch UMLS:C1422779 semapv:UnspecifiedMatching -OMIM:605977 IMMP2L skos:exactMatch hgnc:IMMP2L semapv:UnspecifiedMatching +OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:14598 semapv:UnspecifiedMatching +OMIM:605977 IMMP2L skos:exactMatch hgnc.symbol:IMMP2L semapv:UnspecifiedMatching OMIM:605977 IMMP2L skos:exactMatch ncbigene:83943 semapv:UnspecifiedMatching -OMIM:605978 VPS13A skos:exactMatch hgnc:VPS13A semapv:UnspecifiedMatching +OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:1908 semapv:UnspecifiedMatching +OMIM:605978 VPS13A skos:exactMatch hgnc.symbol:VPS13A semapv:UnspecifiedMatching OMIM:605978 VPS13A skos:exactMatch ncbigene:23230 semapv:UnspecifiedMatching -OMIM:605979 SNAPC5 skos:exactMatch hgnc:SNAPC5 semapv:UnspecifiedMatching +OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:15484 semapv:UnspecifiedMatching +OMIM:605979 SNAPC5 skos:exactMatch hgnc.symbol:SNAPC5 semapv:UnspecifiedMatching OMIM:605979 SNAPC5 skos:exactMatch ncbigene:10302 semapv:UnspecifiedMatching -OMIM:605980 NOD1 skos:exactMatch hgnc:NOD1 semapv:UnspecifiedMatching +OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:16390 semapv:UnspecifiedMatching +OMIM:605980 NOD1 skos:exactMatch hgnc.symbol:NOD1 semapv:UnspecifiedMatching OMIM:605980 NOD1 skos:exactMatch ncbigene:10392 semapv:UnspecifiedMatching -OMIM:605981 UBR1 skos:exactMatch hgnc:UBR1 semapv:UnspecifiedMatching +OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:16808 semapv:UnspecifiedMatching +OMIM:605981 UBR1 skos:exactMatch hgnc.symbol:UBR1 semapv:UnspecifiedMatching OMIM:605981 UBR1 skos:exactMatch ncbigene:197131 semapv:UnspecifiedMatching -OMIM:605983 PPP2R1A skos:exactMatch hgnc:PPP2R1A semapv:UnspecifiedMatching +OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:9302 semapv:UnspecifiedMatching +OMIM:605983 PPP2R1A skos:exactMatch hgnc.symbol:PPP2R1A semapv:UnspecifiedMatching OMIM:605983 PPP2R1A skos:exactMatch ncbigene:5518 semapv:UnspecifiedMatching -OMIM:605984 EED skos:exactMatch hgnc:EED semapv:UnspecifiedMatching +OMIM:605984 EED skos:exactMatch hgnc.symbol:3188 semapv:UnspecifiedMatching +OMIM:605984 EED skos:exactMatch hgnc.symbol:EED semapv:UnspecifiedMatching OMIM:605984 EED skos:exactMatch ncbigene:8726 semapv:UnspecifiedMatching -OMIM:605986 STRAP skos:exactMatch hgnc:STRAP semapv:UnspecifiedMatching +OMIM:605986 STRAP skos:exactMatch hgnc.symbol:30796 semapv:UnspecifiedMatching +OMIM:605986 STRAP skos:exactMatch hgnc.symbol:STRAP semapv:UnspecifiedMatching OMIM:605986 STRAP skos:exactMatch ncbigene:11171 semapv:UnspecifiedMatching -OMIM:605987 PIAS3 skos:exactMatch hgnc:PIAS3 semapv:UnspecifiedMatching +OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:16861 semapv:UnspecifiedMatching +OMIM:605987 PIAS3 skos:exactMatch hgnc.symbol:PIAS3 semapv:UnspecifiedMatching OMIM:605987 PIAS3 skos:exactMatch ncbigene:10401 semapv:UnspecifiedMatching -OMIM:605988 DCLRE1C skos:exactMatch hgnc:DCLRE1C semapv:UnspecifiedMatching +OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:17642 semapv:UnspecifiedMatching +OMIM:605988 DCLRE1C skos:exactMatch hgnc.symbol:DCLRE1C semapv:UnspecifiedMatching OMIM:605988 DCLRE1C skos:exactMatch ncbigene:64421 semapv:UnspecifiedMatching -OMIM:605989 PIAS4 skos:exactMatch hgnc:PIAS4 semapv:UnspecifiedMatching +OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:17002 semapv:UnspecifiedMatching +OMIM:605989 PIAS4 skos:exactMatch hgnc.symbol:PIAS4 semapv:UnspecifiedMatching OMIM:605989 PIAS4 skos:exactMatch ncbigene:51588 semapv:UnspecifiedMatching OMIM:605990 nephrolithiasis, uric acid, susceptibility to skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching -OMIM:605991 NGEF skos:exactMatch hgnc:NGEF semapv:UnspecifiedMatching +OMIM:605991 NGEF skos:exactMatch hgnc.symbol:7807 semapv:UnspecifiedMatching +OMIM:605991 NGEF skos:exactMatch hgnc.symbol:NGEF semapv:UnspecifiedMatching OMIM:605991 NGEF skos:exactMatch ncbigene:25791 semapv:UnspecifiedMatching -OMIM:605992 LHX5 skos:exactMatch hgnc:LHX5 semapv:UnspecifiedMatching +OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:14216 semapv:UnspecifiedMatching +OMIM:605992 LHX5 skos:exactMatch hgnc.symbol:LHX5 semapv:UnspecifiedMatching OMIM:605992 LHX5 skos:exactMatch ncbigene:64211 semapv:UnspecifiedMatching OMIM:605993 PDP1 skos:exactMatch UMLS:C1418818 semapv:UnspecifiedMatching OMIM:605993 PDP1 skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching -OMIM:605993 PDP1 skos:exactMatch hgnc:PDP1 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:9279 semapv:UnspecifiedMatching +OMIM:605993 PDP1 skos:exactMatch hgnc.symbol:PDP1 semapv:UnspecifiedMatching OMIM:605993 PDP1 skos:exactMatch ncbigene:54704 semapv:UnspecifiedMatching -OMIM:605994 CYP39A1 skos:exactMatch hgnc:CYP39A1 semapv:UnspecifiedMatching +OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:17449 semapv:UnspecifiedMatching +OMIM:605994 CYP39A1 skos:exactMatch hgnc.symbol:CYP39A1 semapv:UnspecifiedMatching OMIM:605994 CYP39A1 skos:exactMatch ncbigene:51302 semapv:UnspecifiedMatching -OMIM:605995 KIF1B skos:exactMatch hgnc:KIF1B semapv:UnspecifiedMatching +OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:16636 semapv:UnspecifiedMatching +OMIM:605995 KIF1B skos:exactMatch hgnc.symbol:KIF1B semapv:UnspecifiedMatching OMIM:605995 KIF1B skos:exactMatch ncbigene:23095 semapv:UnspecifiedMatching -OMIM:605996 DXO skos:exactMatch hgnc:DXO semapv:UnspecifiedMatching +OMIM:605996 DXO skos:exactMatch hgnc.symbol:2992 semapv:UnspecifiedMatching +OMIM:605996 DXO skos:exactMatch hgnc.symbol:DXO semapv:UnspecifiedMatching OMIM:605996 DXO skos:exactMatch ncbigene:1797 semapv:UnspecifiedMatching -OMIM:605997 PPP2R2C skos:exactMatch hgnc:PPP2R2C semapv:UnspecifiedMatching +OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:9306 semapv:UnspecifiedMatching +OMIM:605997 PPP2R2C skos:exactMatch hgnc.symbol:PPP2R2C semapv:UnspecifiedMatching OMIM:605997 PPP2R2C skos:exactMatch ncbigene:5522 semapv:UnspecifiedMatching -OMIM:605998 HAX1 skos:exactMatch hgnc:HAX1 semapv:UnspecifiedMatching +OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:16915 semapv:UnspecifiedMatching +OMIM:605998 HAX1 skos:exactMatch hgnc.symbol:HAX1 semapv:UnspecifiedMatching OMIM:605998 HAX1 skos:exactMatch ncbigene:10456 semapv:UnspecifiedMatching -OMIM:605999 CLEC10A skos:exactMatch hgnc:CLEC10A semapv:UnspecifiedMatching +OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:16916 semapv:UnspecifiedMatching +OMIM:605999 CLEC10A skos:exactMatch hgnc.symbol:CLEC10A semapv:UnspecifiedMatching OMIM:605999 CLEC10A skos:exactMatch ncbigene:10462 semapv:UnspecifiedMatching -OMIM:606000 BTNL2 skos:exactMatch hgnc:BTNL2 semapv:UnspecifiedMatching +OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:1142 semapv:UnspecifiedMatching +OMIM:606000 BTNL2 skos:exactMatch hgnc.symbol:BTNL2 semapv:UnspecifiedMatching OMIM:606000 BTNL2 skos:exactMatch ncbigene:56244 semapv:UnspecifiedMatching -OMIM:606001 IL32 skos:exactMatch hgnc:IL32 semapv:UnspecifiedMatching +OMIM:606001 IL32 skos:exactMatch hgnc.symbol:16830 semapv:UnspecifiedMatching +OMIM:606001 IL32 skos:exactMatch hgnc.symbol:IL32 semapv:UnspecifiedMatching OMIM:606001 IL32 skos:exactMatch ncbigene:9235 semapv:UnspecifiedMatching +OMIM:606003 transaldolase deficiency skos:exactMatch Orphanet:101028 semapv:UnspecifiedMatching OMIM:606003 transaldolase deficiency skos:exactMatch UMLS:C1291329 semapv:UnspecifiedMatching -OMIM:606003 transaldolase deficiency skos:exactMatch orphanet.ordo:101028 semapv:UnspecifiedMatching -OMIM:606004 GGA1 skos:exactMatch hgnc:GGA1 semapv:UnspecifiedMatching +OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:17842 semapv:UnspecifiedMatching +OMIM:606004 GGA1 skos:exactMatch hgnc.symbol:GGA1 semapv:UnspecifiedMatching OMIM:606004 GGA1 skos:exactMatch ncbigene:26088 semapv:UnspecifiedMatching -OMIM:606005 GGA2 skos:exactMatch hgnc:GGA2 semapv:UnspecifiedMatching +OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:16064 semapv:UnspecifiedMatching +OMIM:606005 GGA2 skos:exactMatch hgnc.symbol:GGA2 semapv:UnspecifiedMatching OMIM:606005 GGA2 skos:exactMatch ncbigene:23062 semapv:UnspecifiedMatching -OMIM:606006 GGA3 skos:exactMatch hgnc:GGA3 semapv:UnspecifiedMatching +OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:17079 semapv:UnspecifiedMatching +OMIM:606006 GGA3 skos:exactMatch hgnc.symbol:GGA3 semapv:UnspecifiedMatching OMIM:606006 GGA3 skos:exactMatch ncbigene:23163 semapv:UnspecifiedMatching -OMIM:606007 POLR3K skos:exactMatch hgnc:POLR3K semapv:UnspecifiedMatching +OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:14121 semapv:UnspecifiedMatching +OMIM:606007 POLR3K skos:exactMatch hgnc.symbol:POLR3K semapv:UnspecifiedMatching OMIM:606007 POLR3K skos:exactMatch ncbigene:51728 semapv:UnspecifiedMatching -OMIM:606008 NKG7 skos:exactMatch hgnc:NKG7 semapv:UnspecifiedMatching +OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:7830 semapv:UnspecifiedMatching +OMIM:606008 NKG7 skos:exactMatch hgnc.symbol:NKG7 semapv:UnspecifiedMatching OMIM:606008 NKG7 skos:exactMatch ncbigene:4818 semapv:UnspecifiedMatching -OMIM:606009 DUX4 skos:exactMatch hgnc:DUX4 semapv:UnspecifiedMatching +OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:50800 semapv:UnspecifiedMatching +OMIM:606009 DUX4 skos:exactMatch hgnc.symbol:DUX4 semapv:UnspecifiedMatching OMIM:606009 DUX4 skos:exactMatch ncbigene:100288687 semapv:UnspecifiedMatching -OMIM:606010 NRBP1 skos:exactMatch hgnc:NRBP1 semapv:UnspecifiedMatching +OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:7993 semapv:UnspecifiedMatching +OMIM:606010 NRBP1 skos:exactMatch hgnc.symbol:NRBP1 semapv:UnspecifiedMatching OMIM:606010 NRBP1 skos:exactMatch ncbigene:29959 semapv:UnspecifiedMatching -OMIM:606011 VSIG2 skos:exactMatch hgnc:VSIG2 semapv:UnspecifiedMatching +OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:17149 semapv:UnspecifiedMatching +OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:VSIG2 semapv:UnspecifiedMatching OMIM:606011 VSIG2 skos:exactMatch ncbigene:23584 semapv:UnspecifiedMatching -OMIM:606013 FBXO5 skos:exactMatch hgnc:FBXO5 semapv:UnspecifiedMatching +OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:13584 semapv:UnspecifiedMatching +OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:FBXO5 semapv:UnspecifiedMatching OMIM:606013 FBXO5 skos:exactMatch ncbigene:26271 semapv:UnspecifiedMatching -OMIM:606014 ALX3 skos:exactMatch hgnc:ALX3 semapv:UnspecifiedMatching +OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:449 semapv:UnspecifiedMatching +OMIM:606014 ALX3 skos:exactMatch hgnc.symbol:ALX3 semapv:UnspecifiedMatching OMIM:606014 ALX3 skos:exactMatch ncbigene:257 semapv:UnspecifiedMatching -OMIM:606015 FAIM3 skos:exactMatch hgnc:FCMR semapv:UnspecifiedMatching +OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:14315 semapv:UnspecifiedMatching +OMIM:606015 FAIM3 skos:exactMatch hgnc.symbol:FCMR semapv:UnspecifiedMatching OMIM:606015 FAIM3 skos:exactMatch ncbigene:9214 semapv:UnspecifiedMatching -OMIM:606016 KEAP1 skos:exactMatch hgnc:KEAP1 semapv:UnspecifiedMatching +OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:23177 semapv:UnspecifiedMatching +OMIM:606016 KEAP1 skos:exactMatch hgnc.symbol:KEAP1 semapv:UnspecifiedMatching OMIM:606016 KEAP1 skos:exactMatch ncbigene:9817 semapv:UnspecifiedMatching -OMIM:606017 POLR2D skos:exactMatch hgnc:POLR2D semapv:UnspecifiedMatching +OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:9191 semapv:UnspecifiedMatching +OMIM:606017 POLR2D skos:exactMatch hgnc.symbol:POLR2D semapv:UnspecifiedMatching OMIM:606017 POLR2D skos:exactMatch ncbigene:5433 semapv:UnspecifiedMatching -OMIM:606018 EDIL3 skos:exactMatch hgnc:EDIL3 semapv:UnspecifiedMatching +OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:3173 semapv:UnspecifiedMatching +OMIM:606018 EDIL3 skos:exactMatch hgnc.symbol:EDIL3 semapv:UnspecifiedMatching OMIM:606018 EDIL3 skos:exactMatch ncbigene:10085 semapv:UnspecifiedMatching -OMIM:606019 EXOSC8 skos:exactMatch hgnc:EXOSC8 semapv:UnspecifiedMatching +OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:17035 semapv:UnspecifiedMatching +OMIM:606019 EXOSC8 skos:exactMatch hgnc.symbol:EXOSC8 semapv:UnspecifiedMatching OMIM:606019 EXOSC8 skos:exactMatch ncbigene:11340 semapv:UnspecifiedMatching -OMIM:606020 OIP5 skos:exactMatch hgnc:OIP5 semapv:UnspecifiedMatching +OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:20300 semapv:UnspecifiedMatching +OMIM:606020 OIP5 skos:exactMatch hgnc.symbol:OIP5 semapv:UnspecifiedMatching OMIM:606020 OIP5 skos:exactMatch ncbigene:11339 semapv:UnspecifiedMatching -OMIM:606021 PRAME skos:exactMatch hgnc:PRAME semapv:UnspecifiedMatching +OMIM:606021 PRAME skos:exactMatch hgnc.symbol:9336 semapv:UnspecifiedMatching +OMIM:606021 PRAME skos:exactMatch hgnc.symbol:PRAME semapv:UnspecifiedMatching OMIM:606021 PRAME skos:exactMatch ncbigene:23532 semapv:UnspecifiedMatching -OMIM:606022 NUDT9 skos:exactMatch hgnc:NUDT9 semapv:UnspecifiedMatching +OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:8056 semapv:UnspecifiedMatching +OMIM:606022 NUDT9 skos:exactMatch hgnc.symbol:NUDT9 semapv:UnspecifiedMatching OMIM:606022 NUDT9 skos:exactMatch ncbigene:53343 semapv:UnspecifiedMatching -OMIM:606023 POLR2H skos:exactMatch hgnc:POLR2H semapv:UnspecifiedMatching +OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:9195 semapv:UnspecifiedMatching +OMIM:606023 POLR2H skos:exactMatch hgnc.symbol:POLR2H semapv:UnspecifiedMatching OMIM:606023 POLR2H skos:exactMatch ncbigene:5437 semapv:UnspecifiedMatching OMIM:606025 ZBTB20 skos:exactMatch UMLS:C0796121 semapv:UnspecifiedMatching OMIM:606025 ZBTB20 skos:exactMatch UMLS:C1538150 semapv:UnspecifiedMatching -OMIM:606025 ZBTB20 skos:exactMatch hgnc:ZBTB20 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:13503 semapv:UnspecifiedMatching +OMIM:606025 ZBTB20 skos:exactMatch hgnc.symbol:ZBTB20 semapv:UnspecifiedMatching OMIM:606025 ZBTB20 skos:exactMatch ncbigene:26137 semapv:UnspecifiedMatching -OMIM:606026 NELFA skos:exactMatch hgnc:NELFA semapv:UnspecifiedMatching +OMIM:606026 NELFA skos:exactMatch hgnc.symbol:12768 semapv:UnspecifiedMatching +OMIM:606026 NELFA skos:exactMatch hgnc.symbol:NELFA semapv:UnspecifiedMatching OMIM:606026 NELFA skos:exactMatch ncbigene:7469 semapv:UnspecifiedMatching OMIM:606027 CPSF1 skos:exactMatch UMLS:C1413684 semapv:UnspecifiedMatching OMIM:606027 CPSF1 skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching -OMIM:606027 CPSF1 skos:exactMatch hgnc:CPSF1 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:2324 semapv:UnspecifiedMatching +OMIM:606027 CPSF1 skos:exactMatch hgnc.symbol:CPSF1 semapv:UnspecifiedMatching OMIM:606027 CPSF1 skos:exactMatch ncbigene:29894 semapv:UnspecifiedMatching -OMIM:606028 CPSF2 skos:exactMatch hgnc:CPSF2 semapv:UnspecifiedMatching +OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:2325 semapv:UnspecifiedMatching +OMIM:606028 CPSF2 skos:exactMatch hgnc.symbol:CPSF2 semapv:UnspecifiedMatching OMIM:606028 CPSF2 skos:exactMatch ncbigene:53981 semapv:UnspecifiedMatching -OMIM:606029 CPSF3 skos:exactMatch hgnc:CPSF3 semapv:UnspecifiedMatching +OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:2326 semapv:UnspecifiedMatching +OMIM:606029 CPSF3 skos:exactMatch hgnc.symbol:CPSF3 semapv:UnspecifiedMatching OMIM:606029 CPSF3 skos:exactMatch ncbigene:51692 semapv:UnspecifiedMatching -OMIM:606030 EDC4 skos:exactMatch hgnc:EDC4 semapv:UnspecifiedMatching +OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:17157 semapv:UnspecifiedMatching +OMIM:606030 EDC4 skos:exactMatch hgnc.symbol:EDC4 semapv:UnspecifiedMatching OMIM:606030 EDC4 skos:exactMatch ncbigene:23644 semapv:UnspecifiedMatching -OMIM:606031 WDR6 skos:exactMatch hgnc:WDR6 semapv:UnspecifiedMatching +OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:12758 semapv:UnspecifiedMatching +OMIM:606031 WDR6 skos:exactMatch hgnc.symbol:WDR6 semapv:UnspecifiedMatching OMIM:606031 WDR6 skos:exactMatch ncbigene:11180 semapv:UnspecifiedMatching -OMIM:606032 SRRM2 skos:exactMatch hgnc:SRRM2 semapv:UnspecifiedMatching +OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:16639 semapv:UnspecifiedMatching +OMIM:606032 SRRM2 skos:exactMatch hgnc.symbol:SRRM2 semapv:UnspecifiedMatching OMIM:606032 SRRM2 skos:exactMatch ncbigene:23524 semapv:UnspecifiedMatching -OMIM:606033 POLR2K skos:exactMatch hgnc:POLR2K semapv:UnspecifiedMatching +OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:9198 semapv:UnspecifiedMatching +OMIM:606033 POLR2K skos:exactMatch hgnc.symbol:POLR2K semapv:UnspecifiedMatching OMIM:606033 POLR2K skos:exactMatch ncbigene:5440 semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1425573 semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching -OMIM:606034 RNASEH2A skos:exactMatch hgnc:RNASEH2A semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:18518 semapv:UnspecifiedMatching +OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:RNASEH2A semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch ncbigene:10535 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch UMLS:C1332115 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch UMLS:C4014708 semapv:UnspecifiedMatching -OMIM:606036 ARNT2 skos:exactMatch hgnc:ARNT2 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:16876 semapv:UnspecifiedMatching +OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:ARNT2 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch ncbigene:9915 semapv:UnspecifiedMatching -OMIM:606037 CD96 skos:exactMatch hgnc:CD96 semapv:UnspecifiedMatching +OMIM:606037 CD96 skos:exactMatch hgnc.symbol:16892 semapv:UnspecifiedMatching +OMIM:606037 CD96 skos:exactMatch hgnc.symbol:CD96 semapv:UnspecifiedMatching OMIM:606037 CD96 skos:exactMatch ncbigene:10225 semapv:UnspecifiedMatching -OMIM:606038 LY6G6D skos:exactMatch hgnc:LY6G6D semapv:UnspecifiedMatching +OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:13935 semapv:UnspecifiedMatching +OMIM:606038 LY6G6D skos:exactMatch hgnc.symbol:LY6G6D semapv:UnspecifiedMatching OMIM:606038 LY6G6D skos:exactMatch ncbigene:58530 semapv:UnspecifiedMatching -OMIM:606039 HCAR3 skos:exactMatch hgnc:HCAR3 semapv:UnspecifiedMatching +OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:16824 semapv:UnspecifiedMatching +OMIM:606039 HCAR3 skos:exactMatch hgnc.symbol:HCAR3 semapv:UnspecifiedMatching OMIM:606039 HCAR3 skos:exactMatch ncbigene:8843 semapv:UnspecifiedMatching -OMIM:606040 WDR8 skos:exactMatch hgnc:WRAP73 semapv:UnspecifiedMatching +OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:12759 semapv:UnspecifiedMatching +OMIM:606040 WDR8 skos:exactMatch hgnc.symbol:WRAP73 semapv:UnspecifiedMatching OMIM:606040 WDR8 skos:exactMatch ncbigene:49856 semapv:UnspecifiedMatching -OMIM:606041 SPARCL1 skos:exactMatch hgnc:SPARCL1 semapv:UnspecifiedMatching +OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:11220 semapv:UnspecifiedMatching +OMIM:606041 SPARCL1 skos:exactMatch hgnc.symbol:SPARCL1 semapv:UnspecifiedMatching OMIM:606041 SPARCL1 skos:exactMatch ncbigene:8404 semapv:UnspecifiedMatching -OMIM:606042 MYNN skos:exactMatch hgnc:MYNN semapv:UnspecifiedMatching +OMIM:606042 MYNN skos:exactMatch hgnc.symbol:14955 semapv:UnspecifiedMatching +OMIM:606042 MYNN skos:exactMatch hgnc.symbol:MYNN semapv:UnspecifiedMatching OMIM:606042 MYNN skos:exactMatch ncbigene:55892 semapv:UnspecifiedMatching -OMIM:606043 ZNF331 skos:exactMatch hgnc:ZNF331 semapv:UnspecifiedMatching +OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:15489 semapv:UnspecifiedMatching +OMIM:606043 ZNF331 skos:exactMatch hgnc.symbol:ZNF331 semapv:UnspecifiedMatching OMIM:606043 ZNF331 skos:exactMatch ncbigene:55422 semapv:UnspecifiedMatching -OMIM:606044 ZNRD2 skos:exactMatch hgnc:ZNRD2 semapv:UnspecifiedMatching +OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:11328 semapv:UnspecifiedMatching +OMIM:606044 ZNRD2 skos:exactMatch hgnc.symbol:ZNRD2 semapv:UnspecifiedMatching OMIM:606044 ZNRD2 skos:exactMatch ncbigene:10534 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch UMLS:C0432235 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch UMLS:C1825573 semapv:UnspecifiedMatching -OMIM:606045 IFT122 skos:exactMatch hgnc:IFT122 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:13556 semapv:UnspecifiedMatching +OMIM:606045 IFT122 skos:exactMatch hgnc.symbol:IFT122 semapv:UnspecifiedMatching OMIM:606045 IFT122 skos:exactMatch ncbigene:55764 semapv:UnspecifiedMatching -OMIM:606046 STX18 skos:exactMatch hgnc:STX18 semapv:UnspecifiedMatching +OMIM:606046 STX18 skos:exactMatch hgnc.symbol:15942 semapv:UnspecifiedMatching +OMIM:606046 STX18 skos:exactMatch hgnc.symbol:STX18 semapv:UnspecifiedMatching OMIM:606046 STX18 skos:exactMatch ncbigene:53407 semapv:UnspecifiedMatching -OMIM:606047 LILRA5 skos:exactMatch hgnc:LILRA5 semapv:UnspecifiedMatching +OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:16309 semapv:UnspecifiedMatching +OMIM:606047 LILRA5 skos:exactMatch hgnc.symbol:LILRA5 semapv:UnspecifiedMatching OMIM:606047 LILRA5 skos:exactMatch ncbigene:353514 semapv:UnspecifiedMatching -OMIM:606048 MBOAT7 skos:exactMatch hgnc:MBOAT7 semapv:UnspecifiedMatching +OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:15505 semapv:UnspecifiedMatching +OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:MBOAT7 semapv:UnspecifiedMatching OMIM:606048 MBOAT7 skos:exactMatch ncbigene:79143 semapv:UnspecifiedMatching -OMIM:606050 UBD skos:exactMatch hgnc:UBD semapv:UnspecifiedMatching +OMIM:606050 UBD skos:exactMatch hgnc.symbol:18795 semapv:UnspecifiedMatching +OMIM:606050 UBD skos:exactMatch hgnc.symbol:UBD semapv:UnspecifiedMatching OMIM:606050 UBD skos:exactMatch ncbigene:10537 semapv:UnspecifiedMatching -OMIM:606051 SERGEF skos:exactMatch hgnc:SERGEF semapv:UnspecifiedMatching +OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:17499 semapv:UnspecifiedMatching +OMIM:606051 SERGEF skos:exactMatch hgnc.symbol:SERGEF semapv:UnspecifiedMatching OMIM:606051 SERGEF skos:exactMatch ncbigene:26297 semapv:UnspecifiedMatching +OMIM:606054 propionic acidemia skos:exactMatch Orphanet:35 semapv:UnspecifiedMatching OMIM:606054 propionic acidemia skos:exactMatch UMLS:C0268579 semapv:UnspecifiedMatching OMIM:606054 propionic acidemia skos:exactMatch UMLS:C4551877 semapv:UnspecifiedMatching -OMIM:606054 propionic acidemia skos:exactMatch orphanet.ordo:35 semapv:UnspecifiedMatching -OMIM:606055 PCTP skos:exactMatch hgnc:PCTP semapv:UnspecifiedMatching +OMIM:606055 PCTP skos:exactMatch hgnc.symbol:8752 semapv:UnspecifiedMatching +OMIM:606055 PCTP skos:exactMatch hgnc.symbol:PCTP semapv:UnspecifiedMatching OMIM:606055 PCTP skos:exactMatch ncbigene:58488 semapv:UnspecifiedMatching -OMIM:606057 RAPGEF3 skos:exactMatch hgnc:RAPGEF3 semapv:UnspecifiedMatching +OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:16629 semapv:UnspecifiedMatching +OMIM:606057 RAPGEF3 skos:exactMatch hgnc.symbol:RAPGEF3 semapv:UnspecifiedMatching OMIM:606057 RAPGEF3 skos:exactMatch ncbigene:10411 semapv:UnspecifiedMatching -OMIM:606058 RAPGEF4 skos:exactMatch hgnc:RAPGEF4 semapv:UnspecifiedMatching +OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:16626 semapv:UnspecifiedMatching +OMIM:606058 RAPGEF4 skos:exactMatch hgnc.symbol:RAPGEF4 semapv:UnspecifiedMatching OMIM:606058 RAPGEF4 skos:exactMatch ncbigene:11069 semapv:UnspecifiedMatching -OMIM:606059 PKIA skos:exactMatch hgnc:PKIA semapv:UnspecifiedMatching +OMIM:606059 PKIA skos:exactMatch hgnc.symbol:9017 semapv:UnspecifiedMatching +OMIM:606059 PKIA skos:exactMatch hgnc.symbol:PKIA semapv:UnspecifiedMatching OMIM:606059 PKIA skos:exactMatch ncbigene:5569 semapv:UnspecifiedMatching -OMIM:606060 DNAJC12 skos:exactMatch hgnc:DNAJC12 semapv:UnspecifiedMatching +OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:28908 semapv:UnspecifiedMatching +OMIM:606060 DNAJC12 skos:exactMatch hgnc.symbol:DNAJC12 semapv:UnspecifiedMatching OMIM:606060 DNAJC12 skos:exactMatch ncbigene:56521 semapv:UnspecifiedMatching OMIM:606061 TBX20 skos:exactMatch UMLS:C1420609 semapv:UnspecifiedMatching OMIM:606061 TBX20 skos:exactMatch UMLS:C1969657 semapv:UnspecifiedMatching -OMIM:606061 TBX20 skos:exactMatch hgnc:TBX20 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:11598 semapv:UnspecifiedMatching +OMIM:606061 TBX20 skos:exactMatch hgnc.symbol:TBX20 semapv:UnspecifiedMatching OMIM:606061 TBX20 skos:exactMatch ncbigene:57057 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch UMLS:C1822780 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch UMLS:C5394608 semapv:UnspecifiedMatching -OMIM:606062 SMC3 skos:exactMatch hgnc:SMC3 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:2468 semapv:UnspecifiedMatching +OMIM:606062 SMC3 skos:exactMatch hgnc.symbol:SMC3 semapv:UnspecifiedMatching OMIM:606062 SMC3 skos:exactMatch ncbigene:9126 semapv:UnspecifiedMatching -OMIM:606063 EXO1 skos:exactMatch hgnc:EXO1 semapv:UnspecifiedMatching +OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:3511 semapv:UnspecifiedMatching +OMIM:606063 EXO1 skos:exactMatch hgnc.symbol:EXO1 semapv:UnspecifiedMatching OMIM:606063 EXO1 skos:exactMatch ncbigene:9156 semapv:UnspecifiedMatching -OMIM:606064 CD248 skos:exactMatch hgnc:CD248 semapv:UnspecifiedMatching +OMIM:606064 CD248 skos:exactMatch hgnc.symbol:18219 semapv:UnspecifiedMatching +OMIM:606064 CD248 skos:exactMatch hgnc.symbol:CD248 semapv:UnspecifiedMatching OMIM:606064 CD248 skos:exactMatch ncbigene:57124 semapv:UnspecifiedMatching OMIM:606065 ACKR4 skos:exactMatch UMLS:C1332704 semapv:UnspecifiedMatching -OMIM:606065 ACKR4 skos:exactMatch hgnc:ACKR4 semapv:UnspecifiedMatching +OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:1611 semapv:UnspecifiedMatching +OMIM:606065 ACKR4 skos:exactMatch hgnc.symbol:ACKR4 semapv:UnspecifiedMatching OMIM:606065 ACKR4 skos:exactMatch ncbigene:51554 semapv:UnspecifiedMatching -OMIM:606066 LHX9 skos:exactMatch hgnc:LHX9 semapv:UnspecifiedMatching +OMIM:606066 LHX9 skos:exactMatch hgnc.symbol:14222 semapv:UnspecifiedMatching +OMIM:606066 LHX9 skos:exactMatch hgnc.symbol:LHX9 semapv:UnspecifiedMatching OMIM:606066 LHX9 skos:exactMatch ncbigene:56956 semapv:UnspecifiedMatching -OMIM:606067 OTOR skos:exactMatch hgnc:OTOR semapv:UnspecifiedMatching +OMIM:606067 OTOR skos:exactMatch hgnc.symbol:8517 semapv:UnspecifiedMatching +OMIM:606067 OTOR skos:exactMatch hgnc.symbol:OTOR semapv:UnspecifiedMatching OMIM:606067 OTOR skos:exactMatch ncbigene:56914 semapv:UnspecifiedMatching +OMIM:606068 retinitis pigmentosa 28 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:606068 retinitis pigmentosa 28 skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching -OMIM:606068 retinitis pigmentosa 28 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching +OMIM:606069 hemochromatosis, iia 4 skos:exactMatch Orphanet:139491 semapv:UnspecifiedMatching OMIM:606069 hemochromatosis, iia 4 skos:exactMatch UMLS:C1853733 semapv:UnspecifiedMatching -OMIM:606069 hemochromatosis, iia 4 skos:exactMatch orphanet.ordo:139491 semapv:UnspecifiedMatching -OMIM:606073 NDOR1 skos:exactMatch hgnc:NDOR1 semapv:UnspecifiedMatching +OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:29838 semapv:UnspecifiedMatching +OMIM:606073 NDOR1 skos:exactMatch hgnc.symbol:NDOR1 semapv:UnspecifiedMatching OMIM:606073 NDOR1 skos:exactMatch ncbigene:27158 semapv:UnspecifiedMatching -OMIM:606074 GBGT1 skos:exactMatch hgnc:GBGT1 semapv:UnspecifiedMatching +OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:20460 semapv:UnspecifiedMatching +OMIM:606074 GBGT1 skos:exactMatch hgnc.symbol:GBGT1 semapv:UnspecifiedMatching OMIM:606074 GBGT1 skos:exactMatch ncbigene:26301 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C1418458 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C1849096 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C1868097 semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch UMLS:C4015307 semapv:UnspecifiedMatching -OMIM:606075 TWNK skos:exactMatch hgnc:TWNK semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch hgnc.symbol:1160 semapv:UnspecifiedMatching +OMIM:606075 TWNK skos:exactMatch hgnc.symbol:TWNK semapv:UnspecifiedMatching OMIM:606075 TWNK skos:exactMatch ncbigene:56652 semapv:UnspecifiedMatching -OMIM:606076 PIK3R3 skos:exactMatch hgnc:PIK3R3 semapv:UnspecifiedMatching +OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:8981 semapv:UnspecifiedMatching +OMIM:606076 PIK3R3 skos:exactMatch hgnc.symbol:PIK3R3 semapv:UnspecifiedMatching OMIM:606076 PIK3R3 skos:exactMatch ncbigene:8503 semapv:UnspecifiedMatching -OMIM:606077 RBM15 skos:exactMatch hgnc:RBM15 semapv:UnspecifiedMatching +OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:14959 semapv:UnspecifiedMatching +OMIM:606077 RBM15 skos:exactMatch hgnc.symbol:RBM15 semapv:UnspecifiedMatching OMIM:606077 RBM15 skos:exactMatch ncbigene:64783 semapv:UnspecifiedMatching OMIM:606078 MRTFA skos:exactMatch UMLS:C1422572 semapv:UnspecifiedMatching OMIM:606078 MRTFA skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching -OMIM:606078 MRTFA skos:exactMatch hgnc:MRTFA semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:14334 semapv:UnspecifiedMatching +OMIM:606078 MRTFA skos:exactMatch hgnc.symbol:MRTFA semapv:UnspecifiedMatching OMIM:606078 MRTFA skos:exactMatch ncbigene:57591 semapv:UnspecifiedMatching -OMIM:606079 CD163L1 skos:exactMatch hgnc:CD163L1 semapv:UnspecifiedMatching +OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:30375 semapv:UnspecifiedMatching +OMIM:606079 CD163L1 skos:exactMatch hgnc.symbol:CD163L1 semapv:UnspecifiedMatching OMIM:606079 CD163L1 skos:exactMatch ncbigene:283316 semapv:UnspecifiedMatching -OMIM:606080 CHIA skos:exactMatch hgnc:CHIA semapv:UnspecifiedMatching +OMIM:606080 CHIA skos:exactMatch hgnc.symbol:17432 semapv:UnspecifiedMatching +OMIM:606080 CHIA skos:exactMatch hgnc.symbol:CHIA semapv:UnspecifiedMatching OMIM:606080 CHIA skos:exactMatch ncbigene:27159 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch UMLS:C1420857 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:606081 TOMM70 skos:exactMatch hgnc:TOMM70 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:11985 semapv:UnspecifiedMatching +OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:TOMM70 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch ncbigene:9868 semapv:UnspecifiedMatching -OMIM:606083 PBRM1 skos:exactMatch hgnc:PBRM1 semapv:UnspecifiedMatching +OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:30064 semapv:UnspecifiedMatching +OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:PBRM1 semapv:UnspecifiedMatching OMIM:606083 PBRM1 skos:exactMatch ncbigene:55193 semapv:UnspecifiedMatching -OMIM:606084 CDC42EP1 skos:exactMatch hgnc:CDC42EP1 semapv:UnspecifiedMatching +OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:17014 semapv:UnspecifiedMatching +OMIM:606084 CDC42EP1 skos:exactMatch hgnc.symbol:CDC42EP1 semapv:UnspecifiedMatching OMIM:606084 CDC42EP1 skos:exactMatch ncbigene:11135 semapv:UnspecifiedMatching -OMIM:606085 TES skos:exactMatch hgnc:TES semapv:UnspecifiedMatching +OMIM:606085 TES skos:exactMatch hgnc.symbol:14620 semapv:UnspecifiedMatching +OMIM:606085 TES skos:exactMatch hgnc.symbol:TES semapv:UnspecifiedMatching OMIM:606085 TES skos:exactMatch ncbigene:26136 semapv:UnspecifiedMatching OMIM:606086 EIF5B skos:exactMatch UMLS:C1429001 semapv:UnspecifiedMatching -OMIM:606086 EIF5B skos:exactMatch hgnc:EIF5B semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:30793 semapv:UnspecifiedMatching +OMIM:606086 EIF5B skos:exactMatch hgnc.symbol:EIF5B semapv:UnspecifiedMatching OMIM:606086 EIF5B skos:exactMatch ncbigene:9669 semapv:UnspecifiedMatching -OMIM:606087 SYNM skos:exactMatch hgnc:SYNM semapv:UnspecifiedMatching +OMIM:606087 SYNM skos:exactMatch hgnc.symbol:24466 semapv:UnspecifiedMatching +OMIM:606087 SYNM skos:exactMatch hgnc.symbol:SYNM semapv:UnspecifiedMatching OMIM:606087 SYNM skos:exactMatch ncbigene:23336 semapv:UnspecifiedMatching -OMIM:606088 PLA2G4B skos:exactMatch hgnc:PLA2G4B semapv:UnspecifiedMatching +OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:9036 semapv:UnspecifiedMatching +OMIM:606088 PLA2G4B skos:exactMatch hgnc.symbol:PLA2G4B semapv:UnspecifiedMatching OMIM:606088 PLA2G4B skos:exactMatch ncbigene:100137049 semapv:UnspecifiedMatching -OMIM:606089 BCYRN1 skos:exactMatch hgnc:BCYRN1 semapv:UnspecifiedMatching +OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:1022 semapv:UnspecifiedMatching +OMIM:606089 BCYRN1 skos:exactMatch hgnc.symbol:BCYRN1 semapv:UnspecifiedMatching OMIM:606089 BCYRN1 skos:exactMatch ncbigene:618 semapv:UnspecifiedMatching -OMIM:606090 CROT skos:exactMatch hgnc:CROT semapv:UnspecifiedMatching +OMIM:606090 CROT skos:exactMatch hgnc.symbol:2366 semapv:UnspecifiedMatching +OMIM:606090 CROT skos:exactMatch hgnc.symbol:CROT semapv:UnspecifiedMatching OMIM:606090 CROT skos:exactMatch ncbigene:54677 semapv:UnspecifiedMatching -OMIM:606091 SIGLEC10 skos:exactMatch hgnc:SIGLEC10 semapv:UnspecifiedMatching +OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:15620 semapv:UnspecifiedMatching +OMIM:606091 SIGLEC10 skos:exactMatch hgnc.symbol:SIGLEC10 semapv:UnspecifiedMatching OMIM:606091 SIGLEC10 skos:exactMatch ncbigene:89790 semapv:UnspecifiedMatching -OMIM:606092 DNAJC14 skos:exactMatch hgnc:DNAJC14 semapv:UnspecifiedMatching +OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:24581 semapv:UnspecifiedMatching +OMIM:606092 DNAJC14 skos:exactMatch hgnc.symbol:DNAJC14 semapv:UnspecifiedMatching OMIM:606092 DNAJC14 skos:exactMatch ncbigene:85406 semapv:UnspecifiedMatching -OMIM:606093 PPIG skos:exactMatch hgnc:PPIG semapv:UnspecifiedMatching +OMIM:606093 PPIG skos:exactMatch hgnc.symbol:14650 semapv:UnspecifiedMatching +OMIM:606093 PPIG skos:exactMatch hgnc.symbol:PPIG semapv:UnspecifiedMatching OMIM:606093 PPIG skos:exactMatch ncbigene:9360 semapv:UnspecifiedMatching -OMIM:606094 SIGLEC12 skos:exactMatch hgnc:SIGLEC12 semapv:UnspecifiedMatching +OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:15482 semapv:UnspecifiedMatching +OMIM:606094 SIGLEC12 skos:exactMatch hgnc.symbol:SIGLEC12 semapv:UnspecifiedMatching OMIM:606094 SIGLEC12 skos:exactMatch ncbigene:89858 semapv:UnspecifiedMatching -OMIM:606095 PPIH skos:exactMatch hgnc:PPIH semapv:UnspecifiedMatching +OMIM:606095 PPIH skos:exactMatch hgnc.symbol:14651 semapv:UnspecifiedMatching +OMIM:606095 PPIH skos:exactMatch hgnc.symbol:PPIH semapv:UnspecifiedMatching OMIM:606095 PPIH skos:exactMatch ncbigene:10465 semapv:UnspecifiedMatching -OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc:LGALS12 semapv:UnspecifiedMatching +OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:15788 semapv:UnspecifiedMatching +OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch hgnc.symbol:LGALS12 semapv:UnspecifiedMatching OMIM:606096 lectin, galactoside-binding, soluble, 12 skos:exactMatch ncbigene:85329 semapv:UnspecifiedMatching -OMIM:606097 PIGN skos:exactMatch hgnc:PIGN semapv:UnspecifiedMatching +OMIM:606097 PIGN skos:exactMatch hgnc.symbol:8967 semapv:UnspecifiedMatching +OMIM:606097 PIGN skos:exactMatch hgnc.symbol:PIGN semapv:UnspecifiedMatching OMIM:606097 PIGN skos:exactMatch ncbigene:23556 semapv:UnspecifiedMatching -OMIM:606098 SNX6 skos:exactMatch hgnc:SNX6 semapv:UnspecifiedMatching +OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:14970 semapv:UnspecifiedMatching +OMIM:606098 SNX6 skos:exactMatch hgnc.symbol:SNX6 semapv:UnspecifiedMatching OMIM:606098 SNX6 skos:exactMatch ncbigene:58533 semapv:UnspecifiedMatching -OMIM:606099 LGALS8 skos:exactMatch hgnc:LGALS8 semapv:UnspecifiedMatching +OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:6569 semapv:UnspecifiedMatching +OMIM:606099 LGALS8 skos:exactMatch hgnc.symbol:LGALS8 semapv:UnspecifiedMatching OMIM:606099 LGALS8 skos:exactMatch ncbigene:3964 semapv:UnspecifiedMatching -OMIM:606100 ADGRE2 skos:exactMatch hgnc:ADGRE2 semapv:UnspecifiedMatching +OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:3337 semapv:UnspecifiedMatching +OMIM:606100 ADGRE2 skos:exactMatch hgnc.symbol:ADGRE2 semapv:UnspecifiedMatching OMIM:606100 ADGRE2 skos:exactMatch ncbigene:30817 semapv:UnspecifiedMatching -OMIM:606101 ADGRE3 skos:exactMatch hgnc:ADGRE3 semapv:UnspecifiedMatching +OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:23647 semapv:UnspecifiedMatching +OMIM:606101 ADGRE3 skos:exactMatch hgnc.symbol:ADGRE3 semapv:UnspecifiedMatching OMIM:606101 ADGRE3 skos:exactMatch ncbigene:84658 semapv:UnspecifiedMatching -OMIM:606102 PIP5K1C skos:exactMatch hgnc:PIP5K1C semapv:UnspecifiedMatching +OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:8996 semapv:UnspecifiedMatching +OMIM:606102 PIP5K1C skos:exactMatch hgnc.symbol:PIP5K1C semapv:UnspecifiedMatching OMIM:606102 PIP5K1C skos:exactMatch ncbigene:23396 semapv:UnspecifiedMatching -OMIM:606103 SESN1 skos:exactMatch hgnc:SESN1 semapv:UnspecifiedMatching +OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:21595 semapv:UnspecifiedMatching +OMIM:606103 SESN1 skos:exactMatch hgnc.symbol:SESN1 semapv:UnspecifiedMatching OMIM:606103 SESN1 skos:exactMatch ncbigene:27244 semapv:UnspecifiedMatching OMIM:606105 SLC44A1 skos:exactMatch UMLS:C1822758 semapv:UnspecifiedMatching OMIM:606105 SLC44A1 skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching -OMIM:606105 SLC44A1 skos:exactMatch hgnc:SLC44A1 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:18798 semapv:UnspecifiedMatching +OMIM:606105 SLC44A1 skos:exactMatch hgnc.symbol:SLC44A1 semapv:UnspecifiedMatching OMIM:606105 SLC44A1 skos:exactMatch ncbigene:23446 semapv:UnspecifiedMatching -OMIM:606106 SLC44A2 skos:exactMatch hgnc:SLC44A2 semapv:UnspecifiedMatching +OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:17292 semapv:UnspecifiedMatching +OMIM:606106 SLC44A2 skos:exactMatch hgnc.symbol:SLC44A2 semapv:UnspecifiedMatching OMIM:606106 SLC44A2 skos:exactMatch ncbigene:57153 semapv:UnspecifiedMatching -OMIM:606107 SLC44A4 skos:exactMatch hgnc:SLC44A4 semapv:UnspecifiedMatching +OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:13941 semapv:UnspecifiedMatching +OMIM:606107 SLC44A4 skos:exactMatch hgnc.symbol:SLC44A4 semapv:UnspecifiedMatching OMIM:606107 SLC44A4 skos:exactMatch ncbigene:80736 semapv:UnspecifiedMatching -OMIM:606108 PPM1A skos:exactMatch hgnc:PPM1A semapv:UnspecifiedMatching +OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:9275 semapv:UnspecifiedMatching +OMIM:606108 PPM1A skos:exactMatch hgnc.symbol:PPM1A semapv:UnspecifiedMatching OMIM:606108 PPM1A skos:exactMatch ncbigene:5494 semapv:UnspecifiedMatching -OMIM:606109 NUDCD1 skos:exactMatch hgnc:NUDCD1 semapv:UnspecifiedMatching +OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:24306 semapv:UnspecifiedMatching +OMIM:606109 NUDCD1 skos:exactMatch hgnc.symbol:NUDCD1 semapv:UnspecifiedMatching OMIM:606109 NUDCD1 skos:exactMatch ncbigene:84955 semapv:UnspecifiedMatching -OMIM:606110 LYNX1 skos:exactMatch hgnc:LYNX1 semapv:UnspecifiedMatching +OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:29604 semapv:UnspecifiedMatching +OMIM:606110 LYNX1 skos:exactMatch hgnc.symbol:LYNX1 semapv:UnspecifiedMatching OMIM:606110 LYNX1 skos:exactMatch ncbigene:66004 semapv:UnspecifiedMatching -OMIM:606111 MCHR2 skos:exactMatch hgnc:MCHR2 semapv:UnspecifiedMatching +OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:20867 semapv:UnspecifiedMatching +OMIM:606111 MCHR2 skos:exactMatch hgnc.symbol:MCHR2 semapv:UnspecifiedMatching OMIM:606111 MCHR2 skos:exactMatch ncbigene:84539 semapv:UnspecifiedMatching -OMIM:606112 RPP14 skos:exactMatch hgnc:RPP14 semapv:UnspecifiedMatching +OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:30327 semapv:UnspecifiedMatching +OMIM:606112 RPP14 skos:exactMatch hgnc.symbol:RPP14 semapv:UnspecifiedMatching OMIM:606112 RPP14 skos:exactMatch ncbigene:11102 semapv:UnspecifiedMatching OMIM:606113 POP7 skos:exactMatch UMLS:C1426553 semapv:UnspecifiedMatching -OMIM:606113 POP7 skos:exactMatch hgnc:POP7 semapv:UnspecifiedMatching +OMIM:606113 POP7 skos:exactMatch hgnc.symbol:19949 semapv:UnspecifiedMatching +OMIM:606113 POP7 skos:exactMatch hgnc.symbol:POP7 semapv:UnspecifiedMatching OMIM:606113 POP7 skos:exactMatch ncbigene:10248 semapv:UnspecifiedMatching OMIM:606114 POP4 skos:exactMatch UMLS:C1428930 semapv:UnspecifiedMatching -OMIM:606114 POP4 skos:exactMatch hgnc:POP4 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch hgnc.symbol:30081 semapv:UnspecifiedMatching +OMIM:606114 POP4 skos:exactMatch hgnc.symbol:POP4 semapv:UnspecifiedMatching OMIM:606114 POP4 skos:exactMatch ncbigene:10775 semapv:UnspecifiedMatching -OMIM:606115 RPP30 skos:exactMatch hgnc:RPP30 semapv:UnspecifiedMatching +OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:17688 semapv:UnspecifiedMatching +OMIM:606115 RPP30 skos:exactMatch hgnc.symbol:RPP30 semapv:UnspecifiedMatching OMIM:606115 RPP30 skos:exactMatch ncbigene:10556 semapv:UnspecifiedMatching -OMIM:606116 RPP38 skos:exactMatch hgnc:RPP38 semapv:UnspecifiedMatching +OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:30329 semapv:UnspecifiedMatching +OMIM:606116 RPP38 skos:exactMatch hgnc.symbol:RPP38 semapv:UnspecifiedMatching OMIM:606116 RPP38 skos:exactMatch ncbigene:10557 semapv:UnspecifiedMatching -OMIM:606117 RPP40 skos:exactMatch hgnc:RPP40 semapv:UnspecifiedMatching +OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:20992 semapv:UnspecifiedMatching +OMIM:606117 RPP40 skos:exactMatch hgnc.symbol:RPP40 semapv:UnspecifiedMatching OMIM:606117 RPP40 skos:exactMatch ncbigene:10799 semapv:UnspecifiedMatching OMIM:606118 HPS3 skos:exactMatch UMLS:C1423606 semapv:UnspecifiedMatching OMIM:606118 HPS3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching -OMIM:606118 HPS3 skos:exactMatch hgnc:HPS3 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:15597 semapv:UnspecifiedMatching +OMIM:606118 HPS3 skos:exactMatch hgnc.symbol:HPS3 semapv:UnspecifiedMatching OMIM:606118 HPS3 skos:exactMatch ncbigene:84343 semapv:UnspecifiedMatching -OMIM:606119 SLURP1 skos:exactMatch hgnc:SLURP1 semapv:UnspecifiedMatching +OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:18746 semapv:UnspecifiedMatching +OMIM:606119 SLURP1 skos:exactMatch hgnc.symbol:SLURP1 semapv:UnspecifiedMatching OMIM:606119 SLURP1 skos:exactMatch ncbigene:57152 semapv:UnspecifiedMatching -OMIM:606121 CRCP skos:exactMatch hgnc:CRCP semapv:UnspecifiedMatching +OMIM:606121 CRCP skos:exactMatch hgnc.symbol:17888 semapv:UnspecifiedMatching +OMIM:606121 CRCP skos:exactMatch hgnc.symbol:CRCP semapv:UnspecifiedMatching OMIM:606121 CRCP skos:exactMatch ncbigene:27297 semapv:UnspecifiedMatching -OMIM:606122 TNFRSF19 skos:exactMatch hgnc:TNFRSF19 semapv:UnspecifiedMatching +OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:11915 semapv:UnspecifiedMatching +OMIM:606122 TNFRSF19 skos:exactMatch hgnc.symbol:TNFRSF19 semapv:UnspecifiedMatching OMIM:606122 TNFRSF19 skos:exactMatch ncbigene:55504 semapv:UnspecifiedMatching -OMIM:606123 RNF16 skos:exactMatch hgnc:TRIM17 semapv:UnspecifiedMatching +OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:13430 semapv:UnspecifiedMatching +OMIM:606123 RNF16 skos:exactMatch hgnc.symbol:TRIM17 semapv:UnspecifiedMatching OMIM:606123 RNF16 skos:exactMatch ncbigene:51127 semapv:UnspecifiedMatching -OMIM:606124 RNF18 skos:exactMatch hgnc:TRIM49 semapv:UnspecifiedMatching +OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:13431 semapv:UnspecifiedMatching +OMIM:606124 RNF18 skos:exactMatch hgnc.symbol:TRIM49 semapv:UnspecifiedMatching OMIM:606124 RNF18 skos:exactMatch ncbigene:57093 semapv:UnspecifiedMatching -OMIM:606125 TRIM8 skos:exactMatch hgnc:TRIM8 semapv:UnspecifiedMatching +OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:15579 semapv:UnspecifiedMatching +OMIM:606125 TRIM8 skos:exactMatch hgnc.symbol:TRIM8 semapv:UnspecifiedMatching OMIM:606125 TRIM8 skos:exactMatch ncbigene:81603 semapv:UnspecifiedMatching -OMIM:606126 BCL2L14 skos:exactMatch hgnc:BCL2L14 semapv:UnspecifiedMatching +OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:16657 semapv:UnspecifiedMatching +OMIM:606126 BCL2L14 skos:exactMatch hgnc.symbol:BCL2L14 semapv:UnspecifiedMatching OMIM:606126 BCL2L14 skos:exactMatch ncbigene:79370 semapv:UnspecifiedMatching OMIM:606127 MYOCD skos:exactMatch UMLS:C1423951 semapv:UnspecifiedMatching OMIM:606127 MYOCD skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching -OMIM:606127 MYOCD skos:exactMatch hgnc:MYOCD semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:16067 semapv:UnspecifiedMatching +OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:MYOCD semapv:UnspecifiedMatching OMIM:606127 MYOCD skos:exactMatch ncbigene:93649 semapv:UnspecifiedMatching -OMIM:606130 RNF26 skos:exactMatch hgnc:RNF26 semapv:UnspecifiedMatching +OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:14646 semapv:UnspecifiedMatching +OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:RNF26 semapv:UnspecifiedMatching OMIM:606130 RNF26 skos:exactMatch ncbigene:79102 semapv:UnspecifiedMatching -OMIM:606131 TRIM63 skos:exactMatch hgnc:TRIM63 semapv:UnspecifiedMatching +OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:16007 semapv:UnspecifiedMatching +OMIM:606131 TRIM63 skos:exactMatch hgnc.symbol:TRIM63 semapv:UnspecifiedMatching OMIM:606131 TRIM63 skos:exactMatch ncbigene:84676 semapv:UnspecifiedMatching -OMIM:606132 CDC42EP2 skos:exactMatch hgnc:CDC42EP2 semapv:UnspecifiedMatching +OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:16263 semapv:UnspecifiedMatching +OMIM:606132 CDC42EP2 skos:exactMatch hgnc.symbol:CDC42EP2 semapv:UnspecifiedMatching OMIM:606132 CDC42EP2 skos:exactMatch ncbigene:10435 semapv:UnspecifiedMatching -OMIM:606133 CDC42EP3 skos:exactMatch hgnc:CDC42EP3 semapv:UnspecifiedMatching +OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:16943 semapv:UnspecifiedMatching +OMIM:606133 CDC42EP3 skos:exactMatch hgnc.symbol:CDC42EP3 semapv:UnspecifiedMatching OMIM:606133 CDC42EP3 skos:exactMatch ncbigene:10602 semapv:UnspecifiedMatching OMIM:606134 REV1 skos:exactMatch UMLS:C1826797 semapv:UnspecifiedMatching -OMIM:606134 REV1 skos:exactMatch hgnc:REV1 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch hgnc.symbol:14060 semapv:UnspecifiedMatching +OMIM:606134 REV1 skos:exactMatch hgnc.symbol:REV1 semapv:UnspecifiedMatching OMIM:606134 REV1 skos:exactMatch ncbigene:51455 semapv:UnspecifiedMatching -OMIM:606135 KLK14 skos:exactMatch hgnc:KLK14 semapv:UnspecifiedMatching +OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:6362 semapv:UnspecifiedMatching +OMIM:606135 KLK14 skos:exactMatch hgnc.symbol:KLK14 semapv:UnspecifiedMatching OMIM:606135 KLK14 skos:exactMatch ncbigene:43847 semapv:UnspecifiedMatching -OMIM:606136 RASAL2 skos:exactMatch hgnc:RASAL2 semapv:UnspecifiedMatching +OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:9874 semapv:UnspecifiedMatching +OMIM:606136 RASAL2 skos:exactMatch hgnc.symbol:RASAL2 semapv:UnspecifiedMatching OMIM:606136 RASAL2 skos:exactMatch ncbigene:9462 semapv:UnspecifiedMatching -OMIM:606137 CGREF1 skos:exactMatch hgnc:CGREF1 semapv:UnspecifiedMatching +OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:16962 semapv:UnspecifiedMatching +OMIM:606137 CGREF1 skos:exactMatch hgnc.symbol:CGREF1 semapv:UnspecifiedMatching OMIM:606137 CGREF1 skos:exactMatch ncbigene:10669 semapv:UnspecifiedMatching -OMIM:606138 CGRRF1 skos:exactMatch hgnc:CGRRF1 semapv:UnspecifiedMatching +OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:15528 semapv:UnspecifiedMatching +OMIM:606138 CGRRF1 skos:exactMatch hgnc.symbol:CGRRF1 semapv:UnspecifiedMatching OMIM:606138 CGRRF1 skos:exactMatch ncbigene:10668 semapv:UnspecifiedMatching -OMIM:606139 KLF16 skos:exactMatch hgnc:KLF16 semapv:UnspecifiedMatching +OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:16857 semapv:UnspecifiedMatching +OMIM:606139 KLF16 skos:exactMatch hgnc.symbol:KLF16 semapv:UnspecifiedMatching OMIM:606139 KLF16 skos:exactMatch ncbigene:83855 semapv:UnspecifiedMatching -OMIM:606140 XPO7 skos:exactMatch hgnc:XPO7 semapv:UnspecifiedMatching +OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:14108 semapv:UnspecifiedMatching +OMIM:606140 XPO7 skos:exactMatch hgnc.symbol:XPO7 semapv:UnspecifiedMatching OMIM:606140 XPO7 skos:exactMatch ncbigene:23039 semapv:UnspecifiedMatching -OMIM:606141 RANBP17 skos:exactMatch hgnc:RANBP17 semapv:UnspecifiedMatching +OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:14428 semapv:UnspecifiedMatching +OMIM:606141 RANBP17 skos:exactMatch hgnc.symbol:RANBP17 semapv:UnspecifiedMatching OMIM:606141 RANBP17 skos:exactMatch ncbigene:64901 semapv:UnspecifiedMatching OMIM:606142 SLC2A9 skos:exactMatch UMLS:C1421998 semapv:UnspecifiedMatching OMIM:606142 SLC2A9 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225531 semapv:UnspecifiedMatching OMIM:606142 SLC2A9 skos:exactMatch UMLS:C4225532 semapv:UnspecifiedMatching -OMIM:606142 SLC2A9 skos:exactMatch hgnc:SLC2A9 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:13446 semapv:UnspecifiedMatching +OMIM:606142 SLC2A9 skos:exactMatch hgnc.symbol:SLC2A9 semapv:UnspecifiedMatching OMIM:606142 SLC2A9 skos:exactMatch ncbigene:56606 semapv:UnspecifiedMatching -OMIM:606143 FZD3 skos:exactMatch hgnc:FZD3 semapv:UnspecifiedMatching +OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:4041 semapv:UnspecifiedMatching +OMIM:606143 FZD3 skos:exactMatch hgnc.symbol:FZD3 semapv:UnspecifiedMatching OMIM:606143 FZD3 skos:exactMatch ncbigene:7976 semapv:UnspecifiedMatching -OMIM:606144 RAB23 skos:exactMatch hgnc:RAB23 semapv:UnspecifiedMatching +OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:14263 semapv:UnspecifiedMatching +OMIM:606144 RAB23 skos:exactMatch hgnc.symbol:RAB23 semapv:UnspecifiedMatching OMIM:606144 RAB23 skos:exactMatch ncbigene:51715 semapv:UnspecifiedMatching -OMIM:606145 SLC2A10 skos:exactMatch hgnc:SLC2A10 semapv:UnspecifiedMatching +OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:13444 semapv:UnspecifiedMatching +OMIM:606145 SLC2A10 skos:exactMatch hgnc.symbol:SLC2A10 semapv:UnspecifiedMatching OMIM:606145 SLC2A10 skos:exactMatch ncbigene:81031 semapv:UnspecifiedMatching -OMIM:606146 FZD8 skos:exactMatch hgnc:FZD8 semapv:UnspecifiedMatching +OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:4046 semapv:UnspecifiedMatching +OMIM:606146 FZD8 skos:exactMatch hgnc.symbol:FZD8 semapv:UnspecifiedMatching OMIM:606146 FZD8 skos:exactMatch ncbigene:8325 semapv:UnspecifiedMatching -OMIM:606147 FZD10 skos:exactMatch hgnc:FZD10 semapv:UnspecifiedMatching +OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:4039 semapv:UnspecifiedMatching +OMIM:606147 FZD10 skos:exactMatch hgnc.symbol:FZD10 semapv:UnspecifiedMatching OMIM:606147 FZD10 skos:exactMatch ncbigene:11211 semapv:UnspecifiedMatching -OMIM:606148 FADS1 skos:exactMatch hgnc:FADS1 semapv:UnspecifiedMatching +OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:3574 semapv:UnspecifiedMatching +OMIM:606148 FADS1 skos:exactMatch hgnc.symbol:FADS1 semapv:UnspecifiedMatching OMIM:606148 FADS1 skos:exactMatch ncbigene:3992 semapv:UnspecifiedMatching -OMIM:606149 FADS2 skos:exactMatch hgnc:FADS2 semapv:UnspecifiedMatching +OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:3575 semapv:UnspecifiedMatching +OMIM:606149 FADS2 skos:exactMatch hgnc.symbol:FADS2 semapv:UnspecifiedMatching OMIM:606149 FADS2 skos:exactMatch ncbigene:9415 semapv:UnspecifiedMatching -OMIM:606150 FADS3 skos:exactMatch hgnc:FADS3 semapv:UnspecifiedMatching +OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:3576 semapv:UnspecifiedMatching +OMIM:606150 FADS3 skos:exactMatch hgnc.symbol:FADS3 semapv:UnspecifiedMatching OMIM:606150 FADS3 skos:exactMatch ncbigene:3995 semapv:UnspecifiedMatching -OMIM:606151 BBS2 skos:exactMatch hgnc:BBS2 semapv:UnspecifiedMatching +OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:967 semapv:UnspecifiedMatching +OMIM:606151 BBS2 skos:exactMatch hgnc.symbol:BBS2 semapv:UnspecifiedMatching OMIM:606151 BBS2 skos:exactMatch ncbigene:583 semapv:UnspecifiedMatching -OMIM:606152 SLC19A3 skos:exactMatch hgnc:SLC19A3 semapv:UnspecifiedMatching +OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:16266 semapv:UnspecifiedMatching +OMIM:606152 SLC19A3 skos:exactMatch hgnc.symbol:SLC19A3 semapv:UnspecifiedMatching OMIM:606152 SLC19A3 skos:exactMatch ncbigene:80704 semapv:UnspecifiedMatching OMIM:606153 ATP5F1E skos:exactMatch UMLS:C1412659 semapv:UnspecifiedMatching OMIM:606153 ATP5F1E skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching -OMIM:606153 ATP5F1E skos:exactMatch hgnc:ATP5F1E semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:838 semapv:UnspecifiedMatching +OMIM:606153 ATP5F1E skos:exactMatch hgnc.symbol:ATP5F1E semapv:UnspecifiedMatching OMIM:606153 ATP5F1E skos:exactMatch ncbigene:514 semapv:UnspecifiedMatching -OMIM:606154 MUC16 skos:exactMatch hgnc:MUC16 semapv:UnspecifiedMatching +OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:15582 semapv:UnspecifiedMatching +OMIM:606154 MUC16 skos:exactMatch hgnc.symbol:MUC16 semapv:UnspecifiedMatching OMIM:606154 MUC16 skos:exactMatch ncbigene:94025 semapv:UnspecifiedMatching -OMIM:606157 PANK2 skos:exactMatch hgnc:PANK2 semapv:UnspecifiedMatching +OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:15894 semapv:UnspecifiedMatching +OMIM:606157 PANK2 skos:exactMatch hgnc.symbol:PANK2 semapv:UnspecifiedMatching OMIM:606157 PANK2 skos:exactMatch ncbigene:80025 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C1423761 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C1720863 semapv:UnspecifiedMatching @@ -21025,76 +29048,105 @@ OMIM:606158 BSCL2 skos:exactMatch UMLS:C2931276 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C4014700 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C4016959 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching -OMIM:606158 BSCL2 skos:exactMatch hgnc:BSCL2 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:15832 semapv:UnspecifiedMatching +OMIM:606158 BSCL2 skos:exactMatch hgnc.symbol:BSCL2 semapv:UnspecifiedMatching OMIM:606158 BSCL2 skos:exactMatch ncbigene:26580 semapv:UnspecifiedMatching -OMIM:606160 PANK1 skos:exactMatch hgnc:PANK1 semapv:UnspecifiedMatching +OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:8598 semapv:UnspecifiedMatching +OMIM:606160 PANK1 skos:exactMatch hgnc.symbol:PANK1 semapv:UnspecifiedMatching OMIM:606160 PANK1 skos:exactMatch ncbigene:53354 semapv:UnspecifiedMatching -OMIM:606161 PANK3 skos:exactMatch hgnc:PANK3 semapv:UnspecifiedMatching +OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:19365 semapv:UnspecifiedMatching +OMIM:606161 PANK3 skos:exactMatch hgnc.symbol:PANK3 semapv:UnspecifiedMatching OMIM:606161 PANK3 skos:exactMatch ncbigene:79646 semapv:UnspecifiedMatching -OMIM:606162 PANK4 skos:exactMatch hgnc:PANK4 semapv:UnspecifiedMatching +OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:19366 semapv:UnspecifiedMatching +OMIM:606162 PANK4 skos:exactMatch hgnc.symbol:PANK4 semapv:UnspecifiedMatching OMIM:606162 PANK4 skos:exactMatch ncbigene:55229 semapv:UnspecifiedMatching +OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch UMLS:C4225411 semapv:UnspecifiedMatching -OMIM:606164 diamond-blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch orphanet.ordo:124 semapv:UnspecifiedMatching -OMIM:606165 BOLL skos:exactMatch hgnc:BOLL semapv:UnspecifiedMatching +OMIM:606165 BOLL skos:exactMatch hgnc.symbol:14273 semapv:UnspecifiedMatching +OMIM:606165 BOLL skos:exactMatch hgnc.symbol:BOLL semapv:UnspecifiedMatching OMIM:606165 BOLL skos:exactMatch ncbigene:66037 semapv:UnspecifiedMatching -OMIM:606167 GPR132 skos:exactMatch hgnc:GPR132 semapv:UnspecifiedMatching +OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:17482 semapv:UnspecifiedMatching +OMIM:606167 GPR132 skos:exactMatch hgnc.symbol:GPR132 semapv:UnspecifiedMatching OMIM:606167 GPR132 skos:exactMatch ncbigene:29933 semapv:UnspecifiedMatching OMIM:606168 DDX20 skos:exactMatch UMLS:C1413960 semapv:UnspecifiedMatching -OMIM:606168 DDX20 skos:exactMatch hgnc:DDX20 semapv:UnspecifiedMatching +OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:2743 semapv:UnspecifiedMatching +OMIM:606168 DDX20 skos:exactMatch hgnc.symbol:DDX20 semapv:UnspecifiedMatching OMIM:606168 DDX20 skos:exactMatch ncbigene:11218 semapv:UnspecifiedMatching +OMIM:606170 genitopatellar syndrome skos:exactMatch Orphanet:85201 semapv:UnspecifiedMatching OMIM:606170 genitopatellar syndrome skos:exactMatch UMLS:C1853566 semapv:UnspecifiedMatching -OMIM:606170 genitopatellar syndrome skos:exactMatch orphanet.ordo:85201 semapv:UnspecifiedMatching -OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc:TRS-TGA2-1 semapv:UnspecifiedMatching +OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:16292 semapv:UnspecifiedMatching +OMIM:606171 TRS-TGA2-1 skos:exactMatch hgnc.symbol:TRS-TGA2-1 semapv:UnspecifiedMatching OMIM:606171 TRS-TGA2-1 skos:exactMatch ncbigene:94017 semapv:UnspecifiedMatching -OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc:TRS-TGA4-1 semapv:UnspecifiedMatching +OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:16294 semapv:UnspecifiedMatching +OMIM:606172 TRS-TGA4-1 skos:exactMatch hgnc.symbol:TRS-TGA4-1 semapv:UnspecifiedMatching OMIM:606172 TRS-TGA4-1 skos:exactMatch ncbigene:23540 semapv:UnspecifiedMatching -OMIM:606173 GRPEL1 skos:exactMatch hgnc:GRPEL1 semapv:UnspecifiedMatching +OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:19696 semapv:UnspecifiedMatching +OMIM:606173 GRPEL1 skos:exactMatch hgnc.symbol:GRPEL1 semapv:UnspecifiedMatching OMIM:606173 GRPEL1 skos:exactMatch ncbigene:80273 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:79134 semapv:UnspecifiedMatching +OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch UMLS:C5393570 semapv:UnspecifiedMatching -OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch orphanet.ordo:79134 semapv:UnspecifiedMatching -OMIM:606176 diabetes mellitus, permanent neonatal, 1 skos:exactMatch orphanet.ordo:99885 semapv:UnspecifiedMatching -OMIM:606178 HHIP skos:exactMatch hgnc:HHIP semapv:UnspecifiedMatching +OMIM:606178 HHIP skos:exactMatch hgnc.symbol:14866 semapv:UnspecifiedMatching +OMIM:606178 HHIP skos:exactMatch hgnc.symbol:HHIP semapv:UnspecifiedMatching OMIM:606178 HHIP skos:exactMatch ncbigene:64399 semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch UMLS:C1539371 semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching -OMIM:606180 EXOSC9 skos:exactMatch hgnc:EXOSC9 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:9137 semapv:UnspecifiedMatching +OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:EXOSC9 semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch ncbigene:5393 semapv:UnspecifiedMatching OMIM:606181 DDX24 skos:exactMatch UMLS:C1421913 semapv:UnspecifiedMatching -OMIM:606181 DDX24 skos:exactMatch hgnc:DDX24 semapv:UnspecifiedMatching +OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:13266 semapv:UnspecifiedMatching +OMIM:606181 DDX24 skos:exactMatch hgnc.symbol:DDX24 semapv:UnspecifiedMatching OMIM:606181 DDX24 skos:exactMatch ncbigene:57062 semapv:UnspecifiedMatching -OMIM:606182 TNFSF9 skos:exactMatch hgnc:TNFSF9 semapv:UnspecifiedMatching +OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:11939 semapv:UnspecifiedMatching +OMIM:606182 TNFSF9 skos:exactMatch hgnc.symbol:TNFSF9 semapv:UnspecifiedMatching OMIM:606182 TNFSF9 skos:exactMatch ncbigene:8744 semapv:UnspecifiedMatching -OMIM:606184 ADAMTS12 skos:exactMatch hgnc:ADAMTS12 semapv:UnspecifiedMatching +OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:14605 semapv:UnspecifiedMatching +OMIM:606184 ADAMTS12 skos:exactMatch hgnc.symbol:ADAMTS12 semapv:UnspecifiedMatching OMIM:606184 ADAMTS12 skos:exactMatch ncbigene:81792 semapv:UnspecifiedMatching -OMIM:606185 TP53INP1 skos:exactMatch hgnc:TP53INP1 semapv:UnspecifiedMatching +OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:18022 semapv:UnspecifiedMatching +OMIM:606185 TP53INP1 skos:exactMatch hgnc.symbol:TP53INP1 semapv:UnspecifiedMatching OMIM:606185 TP53INP1 skos:exactMatch ncbigene:94241 semapv:UnspecifiedMatching -OMIM:606186 CACYBP skos:exactMatch hgnc:CACYBP semapv:UnspecifiedMatching +OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:30423 semapv:UnspecifiedMatching +OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:CACYBP semapv:UnspecifiedMatching OMIM:606186 CACYBP skos:exactMatch ncbigene:27101 semapv:UnspecifiedMatching -OMIM:606188 ADAM28 skos:exactMatch hgnc:ADAM28 semapv:UnspecifiedMatching +OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:206 semapv:UnspecifiedMatching +OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:ADAM28 semapv:UnspecifiedMatching OMIM:606188 ADAM28 skos:exactMatch ncbigene:10863 semapv:UnspecifiedMatching -OMIM:606189 CRIM1 skos:exactMatch hgnc:CRIM1 semapv:UnspecifiedMatching +OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:2359 semapv:UnspecifiedMatching +OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:CRIM1 semapv:UnspecifiedMatching OMIM:606189 CRIM1 skos:exactMatch ncbigene:51232 semapv:UnspecifiedMatching -OMIM:606191 FNBP1 skos:exactMatch hgnc:FNBP1 semapv:UnspecifiedMatching +OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:17069 semapv:UnspecifiedMatching +OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:FNBP1 semapv:UnspecifiedMatching OMIM:606191 FNBP1 skos:exactMatch ncbigene:23048 semapv:UnspecifiedMatching -OMIM:606192 BTNL3 skos:exactMatch hgnc:BTNL3 semapv:UnspecifiedMatching +OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:1143 semapv:UnspecifiedMatching +OMIM:606192 BTNL3 skos:exactMatch hgnc.symbol:BTNL3 semapv:UnspecifiedMatching OMIM:606192 BTNL3 skos:exactMatch ncbigene:10917 semapv:UnspecifiedMatching -OMIM:606193 SLC13A1 skos:exactMatch hgnc:SLC13A1 semapv:UnspecifiedMatching +OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:10916 semapv:UnspecifiedMatching +OMIM:606193 SLC13A1 skos:exactMatch hgnc.symbol:SLC13A1 semapv:UnspecifiedMatching OMIM:606193 SLC13A1 skos:exactMatch ncbigene:6561 semapv:UnspecifiedMatching -OMIM:606194 KRT23 skos:exactMatch hgnc:KRT23 semapv:UnspecifiedMatching +OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:6438 semapv:UnspecifiedMatching +OMIM:606194 KRT23 skos:exactMatch hgnc.symbol:KRT23 semapv:UnspecifiedMatching OMIM:606194 KRT23 skos:exactMatch ncbigene:25984 semapv:UnspecifiedMatching -OMIM:606195 IRX5 skos:exactMatch hgnc:IRX5 semapv:UnspecifiedMatching +OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:14361 semapv:UnspecifiedMatching +OMIM:606195 IRX5 skos:exactMatch hgnc.symbol:IRX5 semapv:UnspecifiedMatching OMIM:606195 IRX5 skos:exactMatch ncbigene:10265 semapv:UnspecifiedMatching -OMIM:606196 IRX6 skos:exactMatch hgnc:IRX6 semapv:UnspecifiedMatching +OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:14675 semapv:UnspecifiedMatching +OMIM:606196 IRX6 skos:exactMatch hgnc.symbol:IRX6 semapv:UnspecifiedMatching OMIM:606196 IRX6 skos:exactMatch ncbigene:79190 semapv:UnspecifiedMatching -OMIM:606197 IRX1 skos:exactMatch hgnc:IRX1 semapv:UnspecifiedMatching +OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:14358 semapv:UnspecifiedMatching +OMIM:606197 IRX1 skos:exactMatch hgnc.symbol:IRX1 semapv:UnspecifiedMatching OMIM:606197 IRX1 skos:exactMatch ncbigene:79192 semapv:UnspecifiedMatching -OMIM:606198 IRX2 skos:exactMatch hgnc:IRX2 semapv:UnspecifiedMatching +OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:14359 semapv:UnspecifiedMatching +OMIM:606198 IRX2 skos:exactMatch hgnc.symbol:IRX2 semapv:UnspecifiedMatching OMIM:606198 IRX2 skos:exactMatch ncbigene:153572 semapv:UnspecifiedMatching -OMIM:606199 IRX4 skos:exactMatch hgnc:IRX4 semapv:UnspecifiedMatching +OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:6129 semapv:UnspecifiedMatching +OMIM:606199 IRX4 skos:exactMatch hgnc.symbol:IRX4 semapv:UnspecifiedMatching OMIM:606199 IRX4 skos:exactMatch ncbigene:50805 semapv:UnspecifiedMatching OMIM:606200 BHLHE41 skos:exactMatch UMLS:C1424440 semapv:UnspecifiedMatching OMIM:606200 BHLHE41 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching -OMIM:606200 BHLHE41 skos:exactMatch hgnc:BHLHE41 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:16617 semapv:UnspecifiedMatching +OMIM:606200 BHLHE41 skos:exactMatch hgnc.symbol:BHLHE41 semapv:UnspecifiedMatching OMIM:606200 BHLHE41 skos:exactMatch ncbigene:79365 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C1421501 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C1833021 semapv:UnspecifiedMatching @@ -21102,430 +29154,610 @@ OMIM:606201 WFS1 skos:exactMatch UMLS:C3280358 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C3805412 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C4016960 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch UMLS:C4551693 semapv:UnspecifiedMatching -OMIM:606201 WFS1 skos:exactMatch hgnc:WFS1 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:12762 semapv:UnspecifiedMatching +OMIM:606201 WFS1 skos:exactMatch hgnc.symbol:WFS1 semapv:UnspecifiedMatching OMIM:606201 WFS1 skos:exactMatch ncbigene:7466 semapv:UnspecifiedMatching -OMIM:606202 SLC45A2 skos:exactMatch hgnc:SLC45A2 semapv:UnspecifiedMatching +OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:16472 semapv:UnspecifiedMatching +OMIM:606202 SLC45A2 skos:exactMatch hgnc.symbol:SLC45A2 semapv:UnspecifiedMatching OMIM:606202 SLC45A2 skos:exactMatch ncbigene:51151 semapv:UnspecifiedMatching -OMIM:606203 GAB2 skos:exactMatch hgnc:GAB2 semapv:UnspecifiedMatching +OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:14458 semapv:UnspecifiedMatching +OMIM:606203 GAB2 skos:exactMatch hgnc.symbol:GAB2 semapv:UnspecifiedMatching OMIM:606203 GAB2 skos:exactMatch ncbigene:9846 semapv:UnspecifiedMatching -OMIM:606204 LY6D skos:exactMatch hgnc:LY6D semapv:UnspecifiedMatching +OMIM:606204 LY6D skos:exactMatch hgnc.symbol:13348 semapv:UnspecifiedMatching +OMIM:606204 LY6D skos:exactMatch hgnc.symbol:LY6D semapv:UnspecifiedMatching OMIM:606204 LY6D skos:exactMatch ncbigene:8581 semapv:UnspecifiedMatching -OMIM:606205 SLC6A7 skos:exactMatch hgnc:SLC6A7 semapv:UnspecifiedMatching +OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:11054 semapv:UnspecifiedMatching +OMIM:606205 SLC6A7 skos:exactMatch hgnc.symbol:SLC6A7 semapv:UnspecifiedMatching OMIM:606205 SLC6A7 skos:exactMatch ncbigene:6534 semapv:UnspecifiedMatching -OMIM:606206 MT4 skos:exactMatch hgnc:MT4 semapv:UnspecifiedMatching +OMIM:606206 MT4 skos:exactMatch hgnc.symbol:18705 semapv:UnspecifiedMatching +OMIM:606206 MT4 skos:exactMatch hgnc.symbol:MT4 semapv:UnspecifiedMatching OMIM:606206 MT4 skos:exactMatch ncbigene:84560 semapv:UnspecifiedMatching -OMIM:606207 SLC28A1 skos:exactMatch hgnc:SLC28A1 semapv:UnspecifiedMatching +OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:11001 semapv:UnspecifiedMatching +OMIM:606207 SLC28A1 skos:exactMatch hgnc.symbol:SLC28A1 semapv:UnspecifiedMatching OMIM:606207 SLC28A1 skos:exactMatch ncbigene:9154 semapv:UnspecifiedMatching -OMIM:606208 SLC28A2 skos:exactMatch hgnc:SLC28A2 semapv:UnspecifiedMatching +OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:11002 semapv:UnspecifiedMatching +OMIM:606208 SLC28A2 skos:exactMatch hgnc.symbol:SLC28A2 semapv:UnspecifiedMatching OMIM:606208 SLC28A2 skos:exactMatch ncbigene:9153 semapv:UnspecifiedMatching OMIM:606209 YKT6 skos:exactMatch UMLS:C1823893 semapv:UnspecifiedMatching -OMIM:606209 YKT6 skos:exactMatch hgnc:YKT6 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:16959 semapv:UnspecifiedMatching +OMIM:606209 YKT6 skos:exactMatch hgnc.symbol:YKT6 semapv:UnspecifiedMatching OMIM:606209 YKT6 skos:exactMatch ncbigene:10652 semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch UMLS:C0410180 semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch UMLS:C0546264 semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch UMLS:C1423899 semapv:UnspecifiedMatching -OMIM:606210 SELENON skos:exactMatch hgnc:SELENON semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch hgnc.symbol:15999 semapv:UnspecifiedMatching +OMIM:606210 SELENON skos:exactMatch hgnc.symbol:SELENON semapv:UnspecifiedMatching OMIM:606210 SELENON skos:exactMatch ncbigene:57190 semapv:UnspecifiedMatching -OMIM:606211 SIRT6 skos:exactMatch hgnc:SIRT6 semapv:UnspecifiedMatching +OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:14934 semapv:UnspecifiedMatching +OMIM:606211 SIRT6 skos:exactMatch hgnc.symbol:SIRT6 semapv:UnspecifiedMatching OMIM:606211 SIRT6 skos:exactMatch ncbigene:51548 semapv:UnspecifiedMatching -OMIM:606212 SIRT7 skos:exactMatch hgnc:SIRT7 semapv:UnspecifiedMatching +OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:14935 semapv:UnspecifiedMatching +OMIM:606212 SIRT7 skos:exactMatch hgnc.symbol:SIRT7 semapv:UnspecifiedMatching OMIM:606212 SIRT7 skos:exactMatch ncbigene:51547 semapv:UnspecifiedMatching -OMIM:606213 SSR3 skos:exactMatch hgnc:SSR3 semapv:UnspecifiedMatching +OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:11325 semapv:UnspecifiedMatching +OMIM:606213 SSR3 skos:exactMatch hgnc.symbol:SSR3 semapv:UnspecifiedMatching OMIM:606213 SSR3 skos:exactMatch ncbigene:6747 semapv:UnspecifiedMatching -OMIM:606214 SPTBN4 skos:exactMatch hgnc:SPTBN4 semapv:UnspecifiedMatching +OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:14896 semapv:UnspecifiedMatching +OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:SPTBN4 semapv:UnspecifiedMatching OMIM:606214 SPTBN4 skos:exactMatch ncbigene:57731 semapv:UnspecifiedMatching -OMIM:606216 MSRB1 skos:exactMatch hgnc:MSRB1 semapv:UnspecifiedMatching +OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:14133 semapv:UnspecifiedMatching +OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:MSRB1 semapv:UnspecifiedMatching OMIM:606216 MSRB1 skos:exactMatch ncbigene:51734 semapv:UnspecifiedMatching -OMIM:606218 SEPHS2 skos:exactMatch hgnc:SEPHS2 semapv:UnspecifiedMatching +OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:19686 semapv:UnspecifiedMatching +OMIM:606218 SEPHS2 skos:exactMatch hgnc.symbol:SEPHS2 semapv:UnspecifiedMatching OMIM:606218 SEPHS2 skos:exactMatch ncbigene:22928 semapv:UnspecifiedMatching -OMIM:606219 TRAP1 skos:exactMatch hgnc:TRAP1 semapv:UnspecifiedMatching +OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:16264 semapv:UnspecifiedMatching +OMIM:606219 TRAP1 skos:exactMatch hgnc.symbol:TRAP1 semapv:UnspecifiedMatching OMIM:606219 TRAP1 skos:exactMatch ncbigene:10131 semapv:UnspecifiedMatching OMIM:606221 IKZF3 skos:exactMatch UMLS:C1825590 semapv:UnspecifiedMatching -OMIM:606221 IKZF3 skos:exactMatch hgnc:IKZF3 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:13178 semapv:UnspecifiedMatching +OMIM:606221 IKZF3 skos:exactMatch hgnc.symbol:IKZF3 semapv:UnspecifiedMatching OMIM:606221 IKZF3 skos:exactMatch ncbigene:22806 semapv:UnspecifiedMatching -OMIM:606222 IGSF6 skos:exactMatch hgnc:IGSF6 semapv:UnspecifiedMatching +OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:5953 semapv:UnspecifiedMatching +OMIM:606222 IGSF6 skos:exactMatch hgnc.symbol:IGSF6 semapv:UnspecifiedMatching OMIM:606222 IGSF6 skos:exactMatch ncbigene:10261 semapv:UnspecifiedMatching -OMIM:606223 PSMD2 skos:exactMatch hgnc:PSMD2 semapv:UnspecifiedMatching +OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:9559 semapv:UnspecifiedMatching +OMIM:606223 PSMD2 skos:exactMatch hgnc.symbol:PSMD2 semapv:UnspecifiedMatching OMIM:606223 PSMD2 skos:exactMatch ncbigene:5708 semapv:UnspecifiedMatching -OMIM:606224 NT5C3A skos:exactMatch hgnc:NT5C3A semapv:UnspecifiedMatching +OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:17820 semapv:UnspecifiedMatching +OMIM:606224 NT5C3A skos:exactMatch hgnc.symbol:NT5C3A semapv:UnspecifiedMatching OMIM:606224 NT5C3A skos:exactMatch ncbigene:51251 semapv:UnspecifiedMatching -OMIM:606225 TAS1R1 skos:exactMatch hgnc:TAS1R1 semapv:UnspecifiedMatching +OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:14448 semapv:UnspecifiedMatching +OMIM:606225 TAS1R1 skos:exactMatch hgnc.symbol:TAS1R1 semapv:UnspecifiedMatching OMIM:606225 TAS1R1 skos:exactMatch ncbigene:80835 semapv:UnspecifiedMatching -OMIM:606226 TAS1R2 skos:exactMatch hgnc:TAS1R2 semapv:UnspecifiedMatching +OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:14905 semapv:UnspecifiedMatching +OMIM:606226 TAS1R2 skos:exactMatch hgnc.symbol:TAS1R2 semapv:UnspecifiedMatching OMIM:606226 TAS1R2 skos:exactMatch ncbigene:80834 semapv:UnspecifiedMatching -OMIM:606227 MFRP skos:exactMatch hgnc:MFRP semapv:UnspecifiedMatching +OMIM:606227 MFRP skos:exactMatch hgnc.symbol:18121 semapv:UnspecifiedMatching +OMIM:606227 MFRP skos:exactMatch hgnc.symbol:MFRP semapv:UnspecifiedMatching OMIM:606227 MFRP skos:exactMatch ncbigene:83552 semapv:UnspecifiedMatching OMIM:606228 AGO1 skos:exactMatch UMLS:C1414332 semapv:UnspecifiedMatching -OMIM:606228 AGO1 skos:exactMatch hgnc:AGO1 semapv:UnspecifiedMatching +OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:3262 semapv:UnspecifiedMatching +OMIM:606228 AGO1 skos:exactMatch hgnc.symbol:AGO1 semapv:UnspecifiedMatching OMIM:606228 AGO1 skos:exactMatch ncbigene:26523 semapv:UnspecifiedMatching OMIM:606229 AGO2 skos:exactMatch UMLS:C1414333 semapv:UnspecifiedMatching OMIM:606229 AGO2 skos:exactMatch UMLS:C5436892 semapv:UnspecifiedMatching -OMIM:606229 AGO2 skos:exactMatch hgnc:AGO2 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:3263 semapv:UnspecifiedMatching +OMIM:606229 AGO2 skos:exactMatch hgnc.symbol:AGO2 semapv:UnspecifiedMatching OMIM:606229 AGO2 skos:exactMatch ncbigene:27161 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch UMLS:C1422550 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch UMLS:C3151380 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606230 SHANK3 skos:exactMatch hgnc:SHANK3 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:14294 semapv:UnspecifiedMatching +OMIM:606230 SHANK3 skos:exactMatch hgnc.symbol:SHANK3 semapv:UnspecifiedMatching OMIM:606230 SHANK3 skos:exactMatch ncbigene:85358 semapv:UnspecifiedMatching -OMIM:606231 APPL2 skos:exactMatch hgnc:APPL2 semapv:UnspecifiedMatching +OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:18242 semapv:UnspecifiedMatching +OMIM:606231 APPL2 skos:exactMatch hgnc.symbol:APPL2 semapv:UnspecifiedMatching OMIM:606231 APPL2 skos:exactMatch ncbigene:55198 semapv:UnspecifiedMatching +OMIM:606232 phelan-mcdermid syndrome skos:exactMatch Orphanet:48652 semapv:UnspecifiedMatching OMIM:606232 phelan-mcdermid syndrome skos:exactMatch UMLS:C1853490 semapv:UnspecifiedMatching -OMIM:606232 phelan-mcdermid syndrome skos:exactMatch orphanet.ordo:48652 semapv:UnspecifiedMatching -OMIM:606233 PROK1 skos:exactMatch hgnc:PROK1 semapv:UnspecifiedMatching +OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:18454 semapv:UnspecifiedMatching +OMIM:606233 PROK1 skos:exactMatch hgnc.symbol:PROK1 semapv:UnspecifiedMatching OMIM:606233 PROK1 skos:exactMatch ncbigene:84432 semapv:UnspecifiedMatching OMIM:606234 IKZF2 skos:exactMatch UMLS:C1825589 semapv:UnspecifiedMatching -OMIM:606234 IKZF2 skos:exactMatch hgnc:IKZF2 semapv:UnspecifiedMatching +OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:13177 semapv:UnspecifiedMatching +OMIM:606234 IKZF2 skos:exactMatch hgnc.symbol:IKZF2 semapv:UnspecifiedMatching OMIM:606234 IKZF2 skos:exactMatch ncbigene:22807 semapv:UnspecifiedMatching -OMIM:606235 TXNRD3 skos:exactMatch hgnc:TXNRD3 semapv:UnspecifiedMatching +OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:20667 semapv:UnspecifiedMatching +OMIM:606235 TXNRD3 skos:exactMatch hgnc.symbol:TXNRD3 semapv:UnspecifiedMatching OMIM:606235 TXNRD3 skos:exactMatch ncbigene:114112 semapv:UnspecifiedMatching -OMIM:606236 ASPSCR1 skos:exactMatch hgnc:ASPSCR1 semapv:UnspecifiedMatching +OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:13825 semapv:UnspecifiedMatching +OMIM:606236 ASPSCR1 skos:exactMatch hgnc.symbol:ASPSCR1 semapv:UnspecifiedMatching OMIM:606236 ASPSCR1 skos:exactMatch ncbigene:79058 semapv:UnspecifiedMatching -OMIM:606237 TGFBRAP1 skos:exactMatch hgnc:TGFBRAP1 semapv:UnspecifiedMatching +OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:16836 semapv:UnspecifiedMatching +OMIM:606237 TGFBRAP1 skos:exactMatch hgnc.symbol:TGFBRAP1 semapv:UnspecifiedMatching OMIM:606237 TGFBRAP1 skos:exactMatch ncbigene:9392 semapv:UnspecifiedMatching OMIM:606238 IKZF5 skos:exactMatch UMLS:C1825591 semapv:UnspecifiedMatching OMIM:606238 IKZF5 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching -OMIM:606238 IKZF5 skos:exactMatch hgnc:IKZF5 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:14283 semapv:UnspecifiedMatching +OMIM:606238 IKZF5 skos:exactMatch hgnc.symbol:IKZF5 semapv:UnspecifiedMatching OMIM:606238 IKZF5 skos:exactMatch ncbigene:64376 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch UMLS:C1421861 semapv:UnspecifiedMatching -OMIM:606239 IKZF4 skos:exactMatch hgnc:IKZF4 semapv:UnspecifiedMatching +OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:13179 semapv:UnspecifiedMatching +OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:IKZF4 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch ncbigene:64375 semapv:UnspecifiedMatching -OMIM:606241 DICER1 skos:exactMatch hgnc:DICER1 semapv:UnspecifiedMatching +OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:17098 semapv:UnspecifiedMatching +OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:DICER1 semapv:UnspecifiedMatching OMIM:606241 DICER1 skos:exactMatch ncbigene:23405 semapv:UnspecifiedMatching OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching -OMIM:606244 STAM2 skos:exactMatch hgnc:STAM2 semapv:UnspecifiedMatching +OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:11358 semapv:UnspecifiedMatching +OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:STAM2 semapv:UnspecifiedMatching OMIM:606244 STAM2 skos:exactMatch ncbigene:10254 semapv:UnspecifiedMatching OMIM:606245 SUZ12 skos:exactMatch UMLS:C1539902 semapv:UnspecifiedMatching OMIM:606245 SUZ12 skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching -OMIM:606245 SUZ12 skos:exactMatch hgnc:SUZ12 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:17101 semapv:UnspecifiedMatching +OMIM:606245 SUZ12 skos:exactMatch hgnc.symbol:SUZ12 semapv:UnspecifiedMatching OMIM:606245 SUZ12 skos:exactMatch ncbigene:23512 semapv:UnspecifiedMatching -OMIM:606246 JAZF1 skos:exactMatch hgnc:JAZF1 semapv:UnspecifiedMatching +OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:28917 semapv:UnspecifiedMatching +OMIM:606246 JAZF1 skos:exactMatch hgnc.symbol:JAZF1 semapv:UnspecifiedMatching OMIM:606246 JAZF1 skos:exactMatch ncbigene:221895 semapv:UnspecifiedMatching -OMIM:606247 STAMBP skos:exactMatch hgnc:STAMBP semapv:UnspecifiedMatching +OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:16950 semapv:UnspecifiedMatching +OMIM:606247 STAMBP skos:exactMatch hgnc.symbol:STAMBP semapv:UnspecifiedMatching OMIM:606247 STAMBP skos:exactMatch ncbigene:10617 semapv:UnspecifiedMatching -OMIM:606248 QPRT skos:exactMatch hgnc:QPRT semapv:UnspecifiedMatching +OMIM:606248 QPRT skos:exactMatch hgnc.symbol:9755 semapv:UnspecifiedMatching +OMIM:606248 QPRT skos:exactMatch hgnc.symbol:QPRT semapv:UnspecifiedMatching OMIM:606248 QPRT skos:exactMatch ncbigene:23475 semapv:UnspecifiedMatching -OMIM:606249 WNK2 skos:exactMatch hgnc:WNK2 semapv:UnspecifiedMatching +OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:14542 semapv:UnspecifiedMatching +OMIM:606249 WNK2 skos:exactMatch hgnc.symbol:WNK2 semapv:UnspecifiedMatching OMIM:606249 WNK2 skos:exactMatch ncbigene:65268 semapv:UnspecifiedMatching -OMIM:606250 GALNT8 skos:exactMatch hgnc:GALNT8 semapv:UnspecifiedMatching +OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:4130 semapv:UnspecifiedMatching +OMIM:606250 GALNT8 skos:exactMatch hgnc.symbol:GALNT8 semapv:UnspecifiedMatching OMIM:606250 GALNT8 skos:exactMatch ncbigene:26290 semapv:UnspecifiedMatching -OMIM:606251 GALNT9 skos:exactMatch hgnc:GALNT9 semapv:UnspecifiedMatching +OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:4131 semapv:UnspecifiedMatching +OMIM:606251 GALNT9 skos:exactMatch hgnc.symbol:GALNT9 semapv:UnspecifiedMatching OMIM:606251 GALNT9 skos:exactMatch ncbigene:50614 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C1424810 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C1969665 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C1970686 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C2720293 semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch UMLS:C3280646 semapv:UnspecifiedMatching -OMIM:606252 TIRAP skos:exactMatch hgnc:TIRAP semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:17192 semapv:UnspecifiedMatching +OMIM:606252 TIRAP skos:exactMatch hgnc.symbol:TIRAP semapv:UnspecifiedMatching OMIM:606252 TIRAP skos:exactMatch ncbigene:114609 semapv:UnspecifiedMatching -OMIM:606254 SELENOF skos:exactMatch hgnc:SELENOF semapv:UnspecifiedMatching +OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:17705 semapv:UnspecifiedMatching +OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:SELENOF semapv:UnspecifiedMatching OMIM:606254 SELENOF skos:exactMatch ncbigene:9403 semapv:UnspecifiedMatching -OMIM:606259 BRMS1 skos:exactMatch hgnc:BRMS1 semapv:UnspecifiedMatching +OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:17262 semapv:UnspecifiedMatching +OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:BRMS1 semapv:UnspecifiedMatching OMIM:606259 BRMS1 skos:exactMatch ncbigene:25855 semapv:UnspecifiedMatching -OMIM:606260 MTMR9 skos:exactMatch hgnc:MTMR9 semapv:UnspecifiedMatching +OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:14596 semapv:UnspecifiedMatching +OMIM:606260 MTMR9 skos:exactMatch hgnc.symbol:MTMR9 semapv:UnspecifiedMatching OMIM:606260 MTMR9 skos:exactMatch ncbigene:66036 semapv:UnspecifiedMatching -OMIM:606261 NUDT6 skos:exactMatch hgnc:NUDT6 semapv:UnspecifiedMatching +OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:8053 semapv:UnspecifiedMatching +OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:NUDT6 semapv:UnspecifiedMatching OMIM:606261 NUDT6 skos:exactMatch ncbigene:11162 semapv:UnspecifiedMatching -OMIM:606264 CLEC7A skos:exactMatch hgnc:CLEC7A semapv:UnspecifiedMatching +OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:14558 semapv:UnspecifiedMatching +OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:CLEC7A semapv:UnspecifiedMatching OMIM:606264 CLEC7A skos:exactMatch ncbigene:64581 semapv:UnspecifiedMatching -OMIM:606265 EP400 skos:exactMatch hgnc:EP400 semapv:UnspecifiedMatching +OMIM:606265 EP400 skos:exactMatch hgnc.symbol:11958 semapv:UnspecifiedMatching +OMIM:606265 EP400 skos:exactMatch hgnc.symbol:EP400 semapv:UnspecifiedMatching OMIM:606265 EP400 skos:exactMatch ncbigene:57634 semapv:UnspecifiedMatching -OMIM:606266 BMF skos:exactMatch hgnc:BMF semapv:UnspecifiedMatching +OMIM:606266 BMF skos:exactMatch hgnc.symbol:24132 semapv:UnspecifiedMatching +OMIM:606266 BMF skos:exactMatch hgnc.symbol:BMF semapv:UnspecifiedMatching OMIM:606266 BMF skos:exactMatch ncbigene:90427 semapv:UnspecifiedMatching -OMIM:606267 WNT16 skos:exactMatch hgnc:WNT16 semapv:UnspecifiedMatching +OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:16267 semapv:UnspecifiedMatching +OMIM:606267 WNT16 skos:exactMatch hgnc.symbol:WNT16 semapv:UnspecifiedMatching OMIM:606267 WNT16 skos:exactMatch ncbigene:51384 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C0796093 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C1422222 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C1835492 semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch UMLS:C1857069 semapv:UnspecifiedMatching -OMIM:606268 WNT10A skos:exactMatch hgnc:WNT10A semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:13829 semapv:UnspecifiedMatching +OMIM:606268 WNT10A skos:exactMatch hgnc.symbol:WNT10A semapv:UnspecifiedMatching OMIM:606268 WNT10A skos:exactMatch ncbigene:80326 semapv:UnspecifiedMatching -OMIM:606269 TNFRSF13C skos:exactMatch hgnc:TNFRSF13C semapv:UnspecifiedMatching +OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:17755 semapv:UnspecifiedMatching +OMIM:606269 TNFRSF13C skos:exactMatch hgnc.symbol:TNFRSF13C semapv:UnspecifiedMatching OMIM:606269 TNFRSF13C skos:exactMatch ncbigene:115650 semapv:UnspecifiedMatching OMIM:606270 TLR10 skos:exactMatch UMLS:C1423634 semapv:UnspecifiedMatching -OMIM:606270 TLR10 skos:exactMatch hgnc:TLR10 semapv:UnspecifiedMatching +OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:15634 semapv:UnspecifiedMatching +OMIM:606270 TLR10 skos:exactMatch hgnc.symbol:TLR10 semapv:UnspecifiedMatching OMIM:606270 TLR10 skos:exactMatch ncbigene:81793 semapv:UnspecifiedMatching -OMIM:606271 DISC2 skos:exactMatch hgnc:DISC2 semapv:UnspecifiedMatching +OMIM:606271 DISC2 skos:exactMatch hgnc.symbol:2889 semapv:UnspecifiedMatching +OMIM:606271 DISC2 skos:exactMatch hgnc.symbol:DISC2 semapv:UnspecifiedMatching OMIM:606271 DISC2 skos:exactMatch ncbigene:27184 semapv:UnspecifiedMatching -OMIM:606272 CTNS skos:exactMatch hgnc:CTNS semapv:UnspecifiedMatching +OMIM:606272 CTNS skos:exactMatch hgnc.symbol:2518 semapv:UnspecifiedMatching +OMIM:606272 CTNS skos:exactMatch hgnc.symbol:CTNS semapv:UnspecifiedMatching OMIM:606272 CTNS skos:exactMatch ncbigene:1497 semapv:UnspecifiedMatching -OMIM:606273 EIF2B3 skos:exactMatch hgnc:EIF2B3 semapv:UnspecifiedMatching +OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:3259 semapv:UnspecifiedMatching +OMIM:606273 EIF2B3 skos:exactMatch hgnc.symbol:EIF2B3 semapv:UnspecifiedMatching OMIM:606273 EIF2B3 skos:exactMatch ncbigene:8891 semapv:UnspecifiedMatching OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C1413757 semapv:UnspecifiedMatching OMIM:606274 CSNK1G1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:606274 CSNK1G1 skos:exactMatch hgnc:CSNK1G1 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:2454 semapv:UnspecifiedMatching +OMIM:606274 CSNK1G1 skos:exactMatch hgnc.symbol:CSNK1G1 semapv:UnspecifiedMatching OMIM:606274 CSNK1G1 skos:exactMatch ncbigene:53944 semapv:UnspecifiedMatching -OMIM:606276 CRTAC1 skos:exactMatch hgnc:CRTAC1 semapv:UnspecifiedMatching +OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:14882 semapv:UnspecifiedMatching +OMIM:606276 CRTAC1 skos:exactMatch hgnc.symbol:CRTAC1 semapv:UnspecifiedMatching OMIM:606276 CRTAC1 skos:exactMatch ncbigene:55118 semapv:UnspecifiedMatching -OMIM:606277 TOLLIP skos:exactMatch hgnc:TOLLIP semapv:UnspecifiedMatching +OMIM:606277 TOLLIP skos:exactMatch hgnc.symbol:16476 semapv:UnspecifiedMatching +OMIM:606277 TOLLIP skos:exactMatch hgnc.symbol:TOLLIP semapv:UnspecifiedMatching OMIM:606277 TOLLIP skos:exactMatch ncbigene:54472 semapv:UnspecifiedMatching OMIM:606278 FBXW7 skos:exactMatch UMLS:C1333533 semapv:UnspecifiedMatching -OMIM:606278 FBXW7 skos:exactMatch hgnc:FBXW7 semapv:UnspecifiedMatching +OMIM:606278 FBXW7 skos:exactMatch hgnc.symbol:16712 semapv:UnspecifiedMatching +OMIM:606278 FBXW7 skos:exactMatch hgnc.symbol:FBXW7 semapv:UnspecifiedMatching OMIM:606278 FBXW7 skos:exactMatch ncbigene:55294 semapv:UnspecifiedMatching -OMIM:606279 ABI3BP skos:exactMatch hgnc:ABI3BP semapv:UnspecifiedMatching +OMIM:606279 ABI3BP skos:exactMatch hgnc.symbol:17265 semapv:UnspecifiedMatching +OMIM:606279 ABI3BP skos:exactMatch hgnc.symbol:ABI3BP semapv:UnspecifiedMatching OMIM:606279 ABI3BP skos:exactMatch ncbigene:25890 semapv:UnspecifiedMatching -OMIM:606280 NCAPG skos:exactMatch hgnc:NCAPG semapv:UnspecifiedMatching +OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:24304 semapv:UnspecifiedMatching +OMIM:606280 NCAPG skos:exactMatch hgnc.symbol:NCAPG semapv:UnspecifiedMatching OMIM:606280 NCAPG skos:exactMatch ncbigene:64151 semapv:UnspecifiedMatching -OMIM:606281 RAB38 skos:exactMatch hgnc:RAB38 semapv:UnspecifiedMatching +OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:9776 semapv:UnspecifiedMatching +OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:RAB38 semapv:UnspecifiedMatching OMIM:606281 RAB38 skos:exactMatch ncbigene:23682 semapv:UnspecifiedMatching OMIM:606283 SORCS1 skos:exactMatch UMLS:C1539803 semapv:UnspecifiedMatching -OMIM:606283 SORCS1 skos:exactMatch hgnc:SORCS1 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:16697 semapv:UnspecifiedMatching +OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:SORCS1 semapv:UnspecifiedMatching OMIM:606283 SORCS1 skos:exactMatch ncbigene:114815 semapv:UnspecifiedMatching OMIM:606284 SORCS2 skos:exactMatch UMLS:C1539804 semapv:UnspecifiedMatching -OMIM:606284 SORCS2 skos:exactMatch hgnc:SORCS2 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:16698 semapv:UnspecifiedMatching +OMIM:606284 SORCS2 skos:exactMatch hgnc.symbol:SORCS2 semapv:UnspecifiedMatching OMIM:606284 SORCS2 skos:exactMatch ncbigene:57537 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch UMLS:C1539805 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:606285 SORCS3 skos:exactMatch hgnc:SORCS3 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:16699 semapv:UnspecifiedMatching +OMIM:606285 SORCS3 skos:exactMatch hgnc.symbol:SORCS3 semapv:UnspecifiedMatching OMIM:606285 SORCS3 skos:exactMatch ncbigene:22986 semapv:UnspecifiedMatching OMIM:606286 DDX43 skos:exactMatch UMLS:C1425700 semapv:UnspecifiedMatching -OMIM:606286 DDX43 skos:exactMatch hgnc:DDX43 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:18677 semapv:UnspecifiedMatching +OMIM:606286 DDX43 skos:exactMatch hgnc.symbol:DDX43 semapv:UnspecifiedMatching OMIM:606286 DDX43 skos:exactMatch ncbigene:55510 semapv:UnspecifiedMatching -OMIM:606288 PCDHGA1 skos:exactMatch hgnc:PCDHGA1 semapv:UnspecifiedMatching +OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:8696 semapv:UnspecifiedMatching +OMIM:606288 PCDHGA1 skos:exactMatch hgnc.symbol:PCDHGA1 semapv:UnspecifiedMatching OMIM:606288 PCDHGA1 skos:exactMatch ncbigene:56114 semapv:UnspecifiedMatching -OMIM:606289 PCDHGA2 skos:exactMatch hgnc:PCDHGA2 semapv:UnspecifiedMatching +OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:8700 semapv:UnspecifiedMatching +OMIM:606289 PCDHGA2 skos:exactMatch hgnc.symbol:PCDHGA2 semapv:UnspecifiedMatching OMIM:606289 PCDHGA2 skos:exactMatch ncbigene:56113 semapv:UnspecifiedMatching -OMIM:606290 PCDHGA3 skos:exactMatch hgnc:PCDHGA3 semapv:UnspecifiedMatching +OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:8701 semapv:UnspecifiedMatching +OMIM:606290 PCDHGA3 skos:exactMatch hgnc.symbol:PCDHGA3 semapv:UnspecifiedMatching OMIM:606290 PCDHGA3 skos:exactMatch ncbigene:56112 semapv:UnspecifiedMatching -OMIM:606291 PCDHGA4 skos:exactMatch hgnc:PCDHGA4 semapv:UnspecifiedMatching +OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:8702 semapv:UnspecifiedMatching +OMIM:606291 PCDHGA4 skos:exactMatch hgnc.symbol:PCDHGA4 semapv:UnspecifiedMatching OMIM:606291 PCDHGA4 skos:exactMatch ncbigene:56111 semapv:UnspecifiedMatching -OMIM:606292 PCDHGA5 skos:exactMatch hgnc:PCDHGA5 semapv:UnspecifiedMatching +OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:8703 semapv:UnspecifiedMatching +OMIM:606292 PCDHGA5 skos:exactMatch hgnc.symbol:PCDHGA5 semapv:UnspecifiedMatching OMIM:606292 PCDHGA5 skos:exactMatch ncbigene:56110 semapv:UnspecifiedMatching -OMIM:606293 PCDHGA6 skos:exactMatch hgnc:PCDHGA6 semapv:UnspecifiedMatching +OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:8704 semapv:UnspecifiedMatching +OMIM:606293 PCDHGA6 skos:exactMatch hgnc.symbol:PCDHGA6 semapv:UnspecifiedMatching OMIM:606293 PCDHGA6 skos:exactMatch ncbigene:56109 semapv:UnspecifiedMatching -OMIM:606294 PCDHGA7 skos:exactMatch hgnc:PCDHGA7 semapv:UnspecifiedMatching +OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:8705 semapv:UnspecifiedMatching +OMIM:606294 PCDHGA7 skos:exactMatch hgnc.symbol:PCDHGA7 semapv:UnspecifiedMatching OMIM:606294 PCDHGA7 skos:exactMatch ncbigene:56108 semapv:UnspecifiedMatching -OMIM:606295 PCDHGA8 skos:exactMatch hgnc:PCDHGA8 semapv:UnspecifiedMatching +OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:8706 semapv:UnspecifiedMatching +OMIM:606295 PCDHGA8 skos:exactMatch hgnc.symbol:PCDHGA8 semapv:UnspecifiedMatching OMIM:606295 PCDHGA8 skos:exactMatch ncbigene:9708 semapv:UnspecifiedMatching -OMIM:606296 PCDHGA9 skos:exactMatch hgnc:PCDHGA9 semapv:UnspecifiedMatching +OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:8707 semapv:UnspecifiedMatching +OMIM:606296 PCDHGA9 skos:exactMatch hgnc.symbol:PCDHGA9 semapv:UnspecifiedMatching OMIM:606296 PCDHGA9 skos:exactMatch ncbigene:56107 semapv:UnspecifiedMatching -OMIM:606297 PCDHGA10 skos:exactMatch hgnc:PCDHGA10 semapv:UnspecifiedMatching +OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:8697 semapv:UnspecifiedMatching +OMIM:606297 PCDHGA10 skos:exactMatch hgnc.symbol:PCDHGA10 semapv:UnspecifiedMatching OMIM:606297 PCDHGA10 skos:exactMatch ncbigene:56106 semapv:UnspecifiedMatching -OMIM:606298 PCDHGA11 skos:exactMatch hgnc:PCDHGA11 semapv:UnspecifiedMatching +OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:8698 semapv:UnspecifiedMatching +OMIM:606298 PCDHGA11 skos:exactMatch hgnc.symbol:PCDHGA11 semapv:UnspecifiedMatching OMIM:606298 PCDHGA11 skos:exactMatch ncbigene:56105 semapv:UnspecifiedMatching -OMIM:606299 PCDHGB1 skos:exactMatch hgnc:PCDHGB1 semapv:UnspecifiedMatching +OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:8708 semapv:UnspecifiedMatching +OMIM:606299 PCDHGB1 skos:exactMatch hgnc.symbol:PCDHGB1 semapv:UnspecifiedMatching OMIM:606299 PCDHGB1 skos:exactMatch ncbigene:56104 semapv:UnspecifiedMatching -OMIM:606300 PCDHGB2 skos:exactMatch hgnc:PCDHGB2 semapv:UnspecifiedMatching +OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:8709 semapv:UnspecifiedMatching +OMIM:606300 PCDHGB2 skos:exactMatch hgnc.symbol:PCDHGB2 semapv:UnspecifiedMatching OMIM:606300 PCDHGB2 skos:exactMatch ncbigene:56103 semapv:UnspecifiedMatching -OMIM:606301 PCDHGB3 skos:exactMatch hgnc:PCDHGB3 semapv:UnspecifiedMatching +OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:8710 semapv:UnspecifiedMatching +OMIM:606301 PCDHGB3 skos:exactMatch hgnc.symbol:PCDHGB3 semapv:UnspecifiedMatching OMIM:606301 PCDHGB3 skos:exactMatch ncbigene:56102 semapv:UnspecifiedMatching -OMIM:606302 PCDHGB5 skos:exactMatch hgnc:PCDHGB5 semapv:UnspecifiedMatching +OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:8712 semapv:UnspecifiedMatching +OMIM:606302 PCDHGB5 skos:exactMatch hgnc.symbol:PCDHGB5 semapv:UnspecifiedMatching OMIM:606302 PCDHGB5 skos:exactMatch ncbigene:56101 semapv:UnspecifiedMatching -OMIM:606303 PCDHGB6 skos:exactMatch hgnc:PCDHGB6 semapv:UnspecifiedMatching +OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:8713 semapv:UnspecifiedMatching +OMIM:606303 PCDHGB6 skos:exactMatch hgnc.symbol:PCDHGB6 semapv:UnspecifiedMatching OMIM:606303 PCDHGB6 skos:exactMatch ncbigene:56100 semapv:UnspecifiedMatching -OMIM:606304 PCDHGB7 skos:exactMatch hgnc:PCDHGB7 semapv:UnspecifiedMatching +OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:8714 semapv:UnspecifiedMatching +OMIM:606304 PCDHGB7 skos:exactMatch hgnc.symbol:PCDHGB7 semapv:UnspecifiedMatching OMIM:606304 PCDHGB7 skos:exactMatch ncbigene:56099 semapv:UnspecifiedMatching -OMIM:606305 PCDHGC4 skos:exactMatch hgnc:PCDHGC4 semapv:UnspecifiedMatching +OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:8717 semapv:UnspecifiedMatching +OMIM:606305 PCDHGC4 skos:exactMatch hgnc.symbol:PCDHGC4 semapv:UnspecifiedMatching OMIM:606305 PCDHGC4 skos:exactMatch ncbigene:56098 semapv:UnspecifiedMatching -OMIM:606306 PCDHGC5 skos:exactMatch hgnc:PCDHGC5 semapv:UnspecifiedMatching +OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:8718 semapv:UnspecifiedMatching +OMIM:606306 PCDHGC5 skos:exactMatch hgnc.symbol:PCDHGC5 semapv:UnspecifiedMatching OMIM:606306 PCDHGC5 skos:exactMatch ncbigene:56097 semapv:UnspecifiedMatching -OMIM:606307 PCDHA1 skos:exactMatch hgnc:PCDHA1 semapv:UnspecifiedMatching +OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:8663 semapv:UnspecifiedMatching +OMIM:606307 PCDHA1 skos:exactMatch hgnc.symbol:PCDHA1 semapv:UnspecifiedMatching OMIM:606307 PCDHA1 skos:exactMatch ncbigene:56147 semapv:UnspecifiedMatching -OMIM:606308 PCDHA2 skos:exactMatch hgnc:PCDHA2 semapv:UnspecifiedMatching +OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:8668 semapv:UnspecifiedMatching +OMIM:606308 PCDHA2 skos:exactMatch hgnc.symbol:PCDHA2 semapv:UnspecifiedMatching OMIM:606308 PCDHA2 skos:exactMatch ncbigene:56146 semapv:UnspecifiedMatching -OMIM:606309 PCDHA3 skos:exactMatch hgnc:PCDHA3 semapv:UnspecifiedMatching +OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:8669 semapv:UnspecifiedMatching +OMIM:606309 PCDHA3 skos:exactMatch hgnc.symbol:PCDHA3 semapv:UnspecifiedMatching OMIM:606309 PCDHA3 skos:exactMatch ncbigene:56145 semapv:UnspecifiedMatching -OMIM:606310 PCDHA4 skos:exactMatch hgnc:PCDHA4 semapv:UnspecifiedMatching +OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:8670 semapv:UnspecifiedMatching +OMIM:606310 PCDHA4 skos:exactMatch hgnc.symbol:PCDHA4 semapv:UnspecifiedMatching OMIM:606310 PCDHA4 skos:exactMatch ncbigene:56144 semapv:UnspecifiedMatching -OMIM:606311 PCDHA5 skos:exactMatch hgnc:PCDHA5 semapv:UnspecifiedMatching +OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:8671 semapv:UnspecifiedMatching +OMIM:606311 PCDHA5 skos:exactMatch hgnc.symbol:PCDHA5 semapv:UnspecifiedMatching OMIM:606311 PCDHA5 skos:exactMatch ncbigene:56143 semapv:UnspecifiedMatching -OMIM:606312 PCDHA6 skos:exactMatch hgnc:PCDHA6 semapv:UnspecifiedMatching +OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:8672 semapv:UnspecifiedMatching +OMIM:606312 PCDHA6 skos:exactMatch hgnc.symbol:PCDHA6 semapv:UnspecifiedMatching OMIM:606312 PCDHA6 skos:exactMatch ncbigene:56142 semapv:UnspecifiedMatching -OMIM:606313 PCDHA7 skos:exactMatch hgnc:PCDHA7 semapv:UnspecifiedMatching +OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:8673 semapv:UnspecifiedMatching +OMIM:606313 PCDHA7 skos:exactMatch hgnc.symbol:PCDHA7 semapv:UnspecifiedMatching OMIM:606313 PCDHA7 skos:exactMatch ncbigene:56141 semapv:UnspecifiedMatching -OMIM:606314 PCDHA8 skos:exactMatch hgnc:PCDHA8 semapv:UnspecifiedMatching +OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:8674 semapv:UnspecifiedMatching +OMIM:606314 PCDHA8 skos:exactMatch hgnc.symbol:PCDHA8 semapv:UnspecifiedMatching OMIM:606314 PCDHA8 skos:exactMatch ncbigene:56140 semapv:UnspecifiedMatching -OMIM:606315 PCDHA9 skos:exactMatch hgnc:PCDHA9 semapv:UnspecifiedMatching +OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:8675 semapv:UnspecifiedMatching +OMIM:606315 PCDHA9 skos:exactMatch hgnc.symbol:PCDHA9 semapv:UnspecifiedMatching OMIM:606315 PCDHA9 skos:exactMatch ncbigene:9752 semapv:UnspecifiedMatching -OMIM:606316 PCDHA10 skos:exactMatch hgnc:PCDHA10 semapv:UnspecifiedMatching +OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:8664 semapv:UnspecifiedMatching +OMIM:606316 PCDHA10 skos:exactMatch hgnc.symbol:PCDHA10 semapv:UnspecifiedMatching OMIM:606316 PCDHA10 skos:exactMatch ncbigene:56139 semapv:UnspecifiedMatching -OMIM:606317 PCDHA11 skos:exactMatch hgnc:PCDHA11 semapv:UnspecifiedMatching +OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:8665 semapv:UnspecifiedMatching +OMIM:606317 PCDHA11 skos:exactMatch hgnc.symbol:PCDHA11 semapv:UnspecifiedMatching OMIM:606317 PCDHA11 skos:exactMatch ncbigene:56138 semapv:UnspecifiedMatching -OMIM:606318 PCDHA12 skos:exactMatch hgnc:PCDHA12 semapv:UnspecifiedMatching +OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:8666 semapv:UnspecifiedMatching +OMIM:606318 PCDHA12 skos:exactMatch hgnc.symbol:PCDHA12 semapv:UnspecifiedMatching OMIM:606318 PCDHA12 skos:exactMatch ncbigene:56137 semapv:UnspecifiedMatching -OMIM:606319 PCDHA13 skos:exactMatch hgnc:PCDHA13 semapv:UnspecifiedMatching +OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:8667 semapv:UnspecifiedMatching +OMIM:606319 PCDHA13 skos:exactMatch hgnc.symbol:PCDHA13 semapv:UnspecifiedMatching OMIM:606319 PCDHA13 skos:exactMatch ncbigene:56136 semapv:UnspecifiedMatching -OMIM:606320 PCDHAC1 skos:exactMatch hgnc:PCDHAC1 semapv:UnspecifiedMatching +OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:8676 semapv:UnspecifiedMatching +OMIM:606320 PCDHAC1 skos:exactMatch hgnc.symbol:PCDHAC1 semapv:UnspecifiedMatching OMIM:606320 PCDHAC1 skos:exactMatch ncbigene:56135 semapv:UnspecifiedMatching -OMIM:606321 PCDHAC2 skos:exactMatch hgnc:PCDHAC2 semapv:UnspecifiedMatching +OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:8677 semapv:UnspecifiedMatching +OMIM:606321 PCDHAC2 skos:exactMatch hgnc.symbol:PCDHAC2 semapv:UnspecifiedMatching OMIM:606321 PCDHAC2 skos:exactMatch ncbigene:56134 semapv:UnspecifiedMatching -OMIM:606322 CYFIP1 skos:exactMatch hgnc:CYFIP1 semapv:UnspecifiedMatching +OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:13759 semapv:UnspecifiedMatching +OMIM:606322 CYFIP1 skos:exactMatch hgnc.symbol:CYFIP1 semapv:UnspecifiedMatching OMIM:606322 CYFIP1 skos:exactMatch ncbigene:23191 semapv:UnspecifiedMatching OMIM:606323 CYFIP2 skos:exactMatch UMLS:C1422187 semapv:UnspecifiedMatching OMIM:606323 CYFIP2 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching -OMIM:606323 CYFIP2 skos:exactMatch hgnc:CYFIP2 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:13760 semapv:UnspecifiedMatching +OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:CYFIP2 semapv:UnspecifiedMatching OMIM:606323 CYFIP2 skos:exactMatch ncbigene:26999 semapv:UnspecifiedMatching -OMIM:606326 SIX6 skos:exactMatch hgnc:SIX6 semapv:UnspecifiedMatching +OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:10892 semapv:UnspecifiedMatching +OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:SIX6 semapv:UnspecifiedMatching OMIM:606326 SIX6 skos:exactMatch ncbigene:4990 semapv:UnspecifiedMatching -OMIM:606327 PCDHB1 skos:exactMatch hgnc:PCDHB1 semapv:UnspecifiedMatching +OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:8680 semapv:UnspecifiedMatching +OMIM:606327 PCDHB1 skos:exactMatch hgnc.symbol:PCDHB1 semapv:UnspecifiedMatching OMIM:606327 PCDHB1 skos:exactMatch ncbigene:29930 semapv:UnspecifiedMatching -OMIM:606328 PCDHB2 skos:exactMatch hgnc:PCDHB2 semapv:UnspecifiedMatching +OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:8687 semapv:UnspecifiedMatching +OMIM:606328 PCDHB2 skos:exactMatch hgnc.symbol:PCDHB2 semapv:UnspecifiedMatching OMIM:606328 PCDHB2 skos:exactMatch ncbigene:56133 semapv:UnspecifiedMatching -OMIM:606329 PCDHB3 skos:exactMatch hgnc:PCDHB3 semapv:UnspecifiedMatching +OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:8688 semapv:UnspecifiedMatching +OMIM:606329 PCDHB3 skos:exactMatch hgnc.symbol:PCDHB3 semapv:UnspecifiedMatching OMIM:606329 PCDHB3 skos:exactMatch ncbigene:56132 semapv:UnspecifiedMatching -OMIM:606330 PCDHB4 skos:exactMatch hgnc:PCDHB4 semapv:UnspecifiedMatching +OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:8689 semapv:UnspecifiedMatching +OMIM:606330 PCDHB4 skos:exactMatch hgnc.symbol:PCDHB4 semapv:UnspecifiedMatching OMIM:606330 PCDHB4 skos:exactMatch ncbigene:56131 semapv:UnspecifiedMatching -OMIM:606331 PCDHB5 skos:exactMatch hgnc:PCDHB5 semapv:UnspecifiedMatching +OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:8690 semapv:UnspecifiedMatching +OMIM:606331 PCDHB5 skos:exactMatch hgnc.symbol:PCDHB5 semapv:UnspecifiedMatching OMIM:606331 PCDHB5 skos:exactMatch ncbigene:26167 semapv:UnspecifiedMatching -OMIM:606332 PCDHB6 skos:exactMatch hgnc:PCDHB6 semapv:UnspecifiedMatching +OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:8691 semapv:UnspecifiedMatching +OMIM:606332 PCDHB6 skos:exactMatch hgnc.symbol:PCDHB6 semapv:UnspecifiedMatching OMIM:606332 PCDHB6 skos:exactMatch ncbigene:56130 semapv:UnspecifiedMatching -OMIM:606333 PCDHB7 skos:exactMatch hgnc:PCDHB7 semapv:UnspecifiedMatching +OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:8692 semapv:UnspecifiedMatching +OMIM:606333 PCDHB7 skos:exactMatch hgnc.symbol:PCDHB7 semapv:UnspecifiedMatching OMIM:606333 PCDHB7 skos:exactMatch ncbigene:56129 semapv:UnspecifiedMatching -OMIM:606334 PCDHB8 skos:exactMatch hgnc:PCDHB8 semapv:UnspecifiedMatching +OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:8693 semapv:UnspecifiedMatching +OMIM:606334 PCDHB8 skos:exactMatch hgnc.symbol:PCDHB8 semapv:UnspecifiedMatching OMIM:606334 PCDHB8 skos:exactMatch ncbigene:56128 semapv:UnspecifiedMatching -OMIM:606335 PCDHB9 skos:exactMatch hgnc:PCDHB9 semapv:UnspecifiedMatching +OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:8694 semapv:UnspecifiedMatching +OMIM:606335 PCDHB9 skos:exactMatch hgnc.symbol:PCDHB9 semapv:UnspecifiedMatching OMIM:606335 PCDHB9 skos:exactMatch ncbigene:56127 semapv:UnspecifiedMatching -OMIM:606336 PCDHB10 skos:exactMatch hgnc:PCDHB10 semapv:UnspecifiedMatching +OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:8681 semapv:UnspecifiedMatching +OMIM:606336 PCDHB10 skos:exactMatch hgnc.symbol:PCDHB10 semapv:UnspecifiedMatching OMIM:606336 PCDHB10 skos:exactMatch ncbigene:56126 semapv:UnspecifiedMatching -OMIM:606337 PCDHB11 skos:exactMatch hgnc:PCDHB11 semapv:UnspecifiedMatching +OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:8682 semapv:UnspecifiedMatching +OMIM:606337 PCDHB11 skos:exactMatch hgnc.symbol:PCDHB11 semapv:UnspecifiedMatching OMIM:606337 PCDHB11 skos:exactMatch ncbigene:56125 semapv:UnspecifiedMatching -OMIM:606338 PCDHB12 skos:exactMatch hgnc:PCDHB12 semapv:UnspecifiedMatching +OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:8683 semapv:UnspecifiedMatching +OMIM:606338 PCDHB12 skos:exactMatch hgnc.symbol:PCDHB12 semapv:UnspecifiedMatching OMIM:606338 PCDHB12 skos:exactMatch ncbigene:56124 semapv:UnspecifiedMatching -OMIM:606339 PCDHB13 skos:exactMatch hgnc:PCDHB13 semapv:UnspecifiedMatching +OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:8684 semapv:UnspecifiedMatching +OMIM:606339 PCDHB13 skos:exactMatch hgnc.symbol:PCDHB13 semapv:UnspecifiedMatching OMIM:606339 PCDHB13 skos:exactMatch ncbigene:56123 semapv:UnspecifiedMatching -OMIM:606340 PCDHB14 skos:exactMatch hgnc:PCDHB14 semapv:UnspecifiedMatching +OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:8685 semapv:UnspecifiedMatching +OMIM:606340 PCDHB14 skos:exactMatch hgnc.symbol:PCDHB14 semapv:UnspecifiedMatching OMIM:606340 PCDHB14 skos:exactMatch ncbigene:56122 semapv:UnspecifiedMatching -OMIM:606341 PCDHB15 skos:exactMatch hgnc:PCDHB15 semapv:UnspecifiedMatching +OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:8686 semapv:UnspecifiedMatching +OMIM:606341 PCDHB15 skos:exactMatch hgnc.symbol:PCDHB15 semapv:UnspecifiedMatching OMIM:606341 PCDHB15 skos:exactMatch ncbigene:56121 semapv:UnspecifiedMatching -OMIM:606342 SIX4 skos:exactMatch hgnc:SIX4 semapv:UnspecifiedMatching +OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:10890 semapv:UnspecifiedMatching +OMIM:606342 SIX4 skos:exactMatch hgnc.symbol:SIX4 semapv:UnspecifiedMatching OMIM:606342 SIX4 skos:exactMatch ncbigene:51804 semapv:UnspecifiedMatching -OMIM:606343 POLL skos:exactMatch hgnc:POLL semapv:UnspecifiedMatching +OMIM:606343 POLL skos:exactMatch hgnc.symbol:9184 semapv:UnspecifiedMatching +OMIM:606343 POLL skos:exactMatch hgnc.symbol:POLL semapv:UnspecifiedMatching OMIM:606343 POLL skos:exactMatch ncbigene:27343 semapv:UnspecifiedMatching -OMIM:606344 POLM skos:exactMatch hgnc:POLM semapv:UnspecifiedMatching +OMIM:606344 POLM skos:exactMatch hgnc.symbol:9185 semapv:UnspecifiedMatching +OMIM:606344 POLM skos:exactMatch hgnc.symbol:POLM semapv:UnspecifiedMatching OMIM:606344 POLM skos:exactMatch ncbigene:27434 semapv:UnspecifiedMatching -OMIM:606345 PCDHB16 skos:exactMatch hgnc:PCDHB16 semapv:UnspecifiedMatching +OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:14546 semapv:UnspecifiedMatching +OMIM:606345 PCDHB16 skos:exactMatch hgnc.symbol:PCDHB16 semapv:UnspecifiedMatching OMIM:606345 PCDHB16 skos:exactMatch ncbigene:57717 semapv:UnspecifiedMatching -OMIM:606347 PSTPIP1 skos:exactMatch hgnc:PSTPIP1 semapv:UnspecifiedMatching +OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:9580 semapv:UnspecifiedMatching +OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:PSTPIP1 semapv:UnspecifiedMatching OMIM:606347 PSTPIP1 skos:exactMatch ncbigene:9051 semapv:UnspecifiedMatching OMIM:606349 gambling, pathologic skos:exactMatch UMLS:C0030662 semapv:UnspecifiedMatching -OMIM:606350 APTX skos:exactMatch hgnc:APTX semapv:UnspecifiedMatching +OMIM:606350 APTX skos:exactMatch hgnc.symbol:15984 semapv:UnspecifiedMatching +OMIM:606350 APTX skos:exactMatch hgnc.symbol:APTX semapv:UnspecifiedMatching OMIM:606350 APTX skos:exactMatch ncbigene:54840 semapv:UnspecifiedMatching -OMIM:606351 ESPN skos:exactMatch hgnc:ESPN semapv:UnspecifiedMatching +OMIM:606351 ESPN skos:exactMatch hgnc.symbol:13281 semapv:UnspecifiedMatching +OMIM:606351 ESPN skos:exactMatch hgnc.symbol:ESPN semapv:UnspecifiedMatching OMIM:606351 ESPN skos:exactMatch ncbigene:83715 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch UMLS:C1412367 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch UMLS:C1859807 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching -OMIM:606352 ALS2 skos:exactMatch hgnc:ALS2 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:443 semapv:UnspecifiedMatching +OMIM:606352 ALS2 skos:exactMatch hgnc.symbol:ALS2 semapv:UnspecifiedMatching OMIM:606352 ALS2 skos:exactMatch ncbigene:57679 semapv:UnspecifiedMatching +OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch Orphanet:247604 semapv:UnspecifiedMatching OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch UMLS:C1853396 semapv:UnspecifiedMatching -OMIM:606353 primary lateral sclerosis, juvenile skos:exactMatch orphanet.ordo:247604 semapv:UnspecifiedMatching OMIM:606355 DDX18 skos:exactMatch UMLS:C1413958 semapv:UnspecifiedMatching -OMIM:606355 DDX18 skos:exactMatch hgnc:DDX18 semapv:UnspecifiedMatching +OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:2741 semapv:UnspecifiedMatching +OMIM:606355 DDX18 skos:exactMatch hgnc.symbol:DDX18 semapv:UnspecifiedMatching OMIM:606355 DDX18 skos:exactMatch ncbigene:8886 semapv:UnspecifiedMatching -OMIM:606356 TMEM123 skos:exactMatch hgnc:TMEM123 semapv:UnspecifiedMatching +OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:30138 semapv:UnspecifiedMatching +OMIM:606356 TMEM123 skos:exactMatch hgnc.symbol:TMEM123 semapv:UnspecifiedMatching OMIM:606356 TMEM123 skos:exactMatch ncbigene:114908 semapv:UnspecifiedMatching OMIM:606357 DDX21 skos:exactMatch UMLS:C1413961 semapv:UnspecifiedMatching -OMIM:606357 DDX21 skos:exactMatch hgnc:DDX21 semapv:UnspecifiedMatching +OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:2744 semapv:UnspecifiedMatching +OMIM:606357 DDX21 skos:exactMatch hgnc.symbol:DDX21 semapv:UnspecifiedMatching OMIM:606357 DDX21 skos:exactMatch ncbigene:9188 semapv:UnspecifiedMatching OMIM:606358 AGR2 skos:exactMatch UMLS:C1332034 semapv:UnspecifiedMatching -OMIM:606358 AGR2 skos:exactMatch hgnc:AGR2 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:328 semapv:UnspecifiedMatching +OMIM:606358 AGR2 skos:exactMatch hgnc.symbol:AGR2 semapv:UnspecifiedMatching OMIM:606358 AGR2 skos:exactMatch ncbigene:10551 semapv:UnspecifiedMatching -OMIM:606359 WNT3A skos:exactMatch hgnc:WNT3A semapv:UnspecifiedMatching +OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:15983 semapv:UnspecifiedMatching +OMIM:606359 WNT3A skos:exactMatch hgnc.symbol:WNT3A semapv:UnspecifiedMatching OMIM:606359 WNT3A skos:exactMatch ncbigene:89780 semapv:UnspecifiedMatching -OMIM:606360 WNT8A skos:exactMatch hgnc:WNT8A semapv:UnspecifiedMatching +OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:12788 semapv:UnspecifiedMatching +OMIM:606360 WNT8A skos:exactMatch hgnc.symbol:WNT8A semapv:UnspecifiedMatching OMIM:606360 WNT8A skos:exactMatch ncbigene:7478 semapv:UnspecifiedMatching -OMIM:606361 WNT5B skos:exactMatch hgnc:WNT5B semapv:UnspecifiedMatching +OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:16265 semapv:UnspecifiedMatching +OMIM:606361 WNT5B skos:exactMatch hgnc.symbol:WNT5B semapv:UnspecifiedMatching OMIM:606361 WNT5B skos:exactMatch ncbigene:81029 semapv:UnspecifiedMatching -OMIM:606362 ACP4 skos:exactMatch hgnc:ACP4 semapv:UnspecifiedMatching +OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:14376 semapv:UnspecifiedMatching +OMIM:606362 ACP4 skos:exactMatch hgnc.symbol:ACP4 semapv:UnspecifiedMatching OMIM:606362 ACP4 skos:exactMatch ncbigene:93650 semapv:UnspecifiedMatching -OMIM:606363 ABI3 skos:exactMatch hgnc:ABI3 semapv:UnspecifiedMatching +OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:29859 semapv:UnspecifiedMatching +OMIM:606363 ABI3 skos:exactMatch hgnc.symbol:ABI3 semapv:UnspecifiedMatching OMIM:606363 ABI3 skos:exactMatch ncbigene:51225 semapv:UnspecifiedMatching -OMIM:606365 GLS2 skos:exactMatch hgnc:GLS2 semapv:UnspecifiedMatching +OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:29570 semapv:UnspecifiedMatching +OMIM:606365 GLS2 skos:exactMatch hgnc.symbol:GLS2 semapv:UnspecifiedMatching OMIM:606365 GLS2 skos:exactMatch ncbigene:27165 semapv:UnspecifiedMatching -OMIM:606366 RHOU skos:exactMatch hgnc:RHOU semapv:UnspecifiedMatching +OMIM:606366 RHOU skos:exactMatch hgnc.symbol:17794 semapv:UnspecifiedMatching +OMIM:606366 RHOU skos:exactMatch hgnc.symbol:RHOU semapv:UnspecifiedMatching OMIM:606366 RHOU skos:exactMatch ncbigene:58480 semapv:UnspecifiedMatching -OMIM:606368 APOA5 skos:exactMatch hgnc:APOA5 semapv:UnspecifiedMatching +OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:17288 semapv:UnspecifiedMatching +OMIM:606368 APOA5 skos:exactMatch hgnc.symbol:APOA5 semapv:UnspecifiedMatching OMIM:606368 APOA5 skos:exactMatch ncbigene:116519 semapv:UnspecifiedMatching -OMIM:606370 TPK1 skos:exactMatch hgnc:TPK1 semapv:UnspecifiedMatching +OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:17358 semapv:UnspecifiedMatching +OMIM:606370 TPK1 skos:exactMatch hgnc.symbol:TPK1 semapv:UnspecifiedMatching OMIM:606370 TPK1 skos:exactMatch ncbigene:27010 semapv:UnspecifiedMatching -OMIM:606371 ATF7 skos:exactMatch hgnc:ATF7 semapv:UnspecifiedMatching +OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:792 semapv:UnspecifiedMatching +OMIM:606371 ATF7 skos:exactMatch hgnc.symbol:ATF7 semapv:UnspecifiedMatching OMIM:606371 ATF7 skos:exactMatch ncbigene:11016 semapv:UnspecifiedMatching -OMIM:606372 CHRNA10 skos:exactMatch hgnc:CHRNA10 semapv:UnspecifiedMatching +OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:13800 semapv:UnspecifiedMatching +OMIM:606372 CHRNA10 skos:exactMatch hgnc.symbol:CHRNA10 semapv:UnspecifiedMatching OMIM:606372 CHRNA10 skos:exactMatch ncbigene:57053 semapv:UnspecifiedMatching -OMIM:606373 FMN2 skos:exactMatch hgnc:FMN2 semapv:UnspecifiedMatching +OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:14074 semapv:UnspecifiedMatching +OMIM:606373 FMN2 skos:exactMatch hgnc.symbol:FMN2 semapv:UnspecifiedMatching OMIM:606373 FMN2 skos:exactMatch ncbigene:56776 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch UMLS:C1412718 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch UMLS:C3278404 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch UMLS:C4310897 semapv:UnspecifiedMatching -OMIM:606374 B3GAT3 skos:exactMatch hgnc:B3GAT3 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:923 semapv:UnspecifiedMatching +OMIM:606374 B3GAT3 skos:exactMatch hgnc.symbol:B3GAT3 semapv:UnspecifiedMatching OMIM:606374 B3GAT3 skos:exactMatch ncbigene:26229 semapv:UnspecifiedMatching -OMIM:606376 CHST10 skos:exactMatch hgnc:CHST10 semapv:UnspecifiedMatching +OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:19650 semapv:UnspecifiedMatching +OMIM:606376 CHST10 skos:exactMatch hgnc.symbol:CHST10 semapv:UnspecifiedMatching OMIM:606376 CHST10 skos:exactMatch ncbigene:9486 semapv:UnspecifiedMatching -OMIM:606377 DHDH skos:exactMatch hgnc:DHDH semapv:UnspecifiedMatching +OMIM:606377 DHDH skos:exactMatch hgnc.symbol:17887 semapv:UnspecifiedMatching +OMIM:606377 DHDH skos:exactMatch hgnc.symbol:DHDH semapv:UnspecifiedMatching OMIM:606377 DHDH skos:exactMatch ncbigene:27294 semapv:UnspecifiedMatching -OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc:ST6GALNAC4 semapv:UnspecifiedMatching +OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:17846 semapv:UnspecifiedMatching +OMIM:606378 ST6GALNAC4 skos:exactMatch hgnc.symbol:ST6GALNAC4 semapv:UnspecifiedMatching OMIM:606378 ST6GALNAC4 skos:exactMatch ncbigene:27090 semapv:UnspecifiedMatching -OMIM:606379 GPR87 skos:exactMatch hgnc:GPR87 semapv:UnspecifiedMatching +OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:4538 semapv:UnspecifiedMatching +OMIM:606379 GPR87 skos:exactMatch hgnc.symbol:GPR87 semapv:UnspecifiedMatching OMIM:606379 GPR87 skos:exactMatch ncbigene:53836 semapv:UnspecifiedMatching -OMIM:606380 P2RY13 skos:exactMatch hgnc:P2RY13 semapv:UnspecifiedMatching +OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:4537 semapv:UnspecifiedMatching +OMIM:606380 P2RY13 skos:exactMatch hgnc.symbol:P2RY13 semapv:UnspecifiedMatching OMIM:606380 P2RY13 skos:exactMatch ncbigene:53829 semapv:UnspecifiedMatching OMIM:606381 SUCNR1 skos:exactMatch UMLS:C1539890 semapv:UnspecifiedMatching -OMIM:606381 SUCNR1 skos:exactMatch hgnc:SUCNR1 semapv:UnspecifiedMatching +OMIM:606381 SUCNR1 skos:exactMatch hgnc.symbol:4542 semapv:UnspecifiedMatching +OMIM:606381 SUCNR1 skos:exactMatch hgnc.symbol:SUCNR1 semapv:UnspecifiedMatching OMIM:606381 SUCNR1 skos:exactMatch ncbigene:56670 semapv:UnspecifiedMatching -OMIM:606382 MAGI2 skos:exactMatch hgnc:MAGI2 semapv:UnspecifiedMatching +OMIM:606382 MAGI2 skos:exactMatch hgnc.symbol:18957 semapv:UnspecifiedMatching +OMIM:606382 MAGI2 skos:exactMatch hgnc.symbol:MAGI2 semapv:UnspecifiedMatching OMIM:606382 MAGI2 skos:exactMatch ncbigene:9863 semapv:UnspecifiedMatching -OMIM:606383 GPR84 skos:exactMatch hgnc:GPR84 semapv:UnspecifiedMatching +OMIM:606383 GPR84 skos:exactMatch hgnc.symbol:4535 semapv:UnspecifiedMatching +OMIM:606383 GPR84 skos:exactMatch hgnc.symbol:GPR84 semapv:UnspecifiedMatching OMIM:606383 GPR84 skos:exactMatch ncbigene:53831 semapv:UnspecifiedMatching -OMIM:606384 NEDD4L skos:exactMatch hgnc:NEDD4L semapv:UnspecifiedMatching +OMIM:606384 NEDD4L skos:exactMatch hgnc.symbol:7728 semapv:UnspecifiedMatching +OMIM:606384 NEDD4L skos:exactMatch hgnc.symbol:NEDD4L semapv:UnspecifiedMatching OMIM:606384 NEDD4L skos:exactMatch ncbigene:23327 semapv:UnspecifiedMatching -OMIM:606385 OLIG1 skos:exactMatch hgnc:OLIG1 semapv:UnspecifiedMatching +OMIM:606385 OLIG1 skos:exactMatch hgnc.symbol:16983 semapv:UnspecifiedMatching +OMIM:606385 OLIG1 skos:exactMatch hgnc.symbol:OLIG1 semapv:UnspecifiedMatching OMIM:606385 OLIG1 skos:exactMatch ncbigene:116448 semapv:UnspecifiedMatching OMIM:606386 OLIG2 skos:exactMatch UMLS:C1418915 semapv:UnspecifiedMatching -OMIM:606386 OLIG2 skos:exactMatch hgnc:OLIG2 semapv:UnspecifiedMatching +OMIM:606386 OLIG2 skos:exactMatch hgnc.symbol:9398 semapv:UnspecifiedMatching +OMIM:606386 OLIG2 skos:exactMatch hgnc.symbol:OLIG2 semapv:UnspecifiedMatching OMIM:606386 OLIG2 skos:exactMatch ncbigene:10215 semapv:UnspecifiedMatching -OMIM:606387 TOP1MT skos:exactMatch hgnc:TOP1MT semapv:UnspecifiedMatching +OMIM:606387 TOP1MT skos:exactMatch hgnc.symbol:29787 semapv:UnspecifiedMatching +OMIM:606387 TOP1MT skos:exactMatch hgnc.symbol:TOP1MT semapv:UnspecifiedMatching OMIM:606387 TOP1MT skos:exactMatch ncbigene:116447 semapv:UnspecifiedMatching -OMIM:606388 THEM4 skos:exactMatch hgnc:THEM4 semapv:UnspecifiedMatching +OMIM:606388 THEM4 skos:exactMatch hgnc.symbol:17947 semapv:UnspecifiedMatching +OMIM:606388 THEM4 skos:exactMatch hgnc.symbol:THEM4 semapv:UnspecifiedMatching OMIM:606388 THEM4 skos:exactMatch ncbigene:117145 semapv:UnspecifiedMatching -OMIM:606389 CATSPER1 skos:exactMatch hgnc:CATSPER1 semapv:UnspecifiedMatching +OMIM:606389 CATSPER1 skos:exactMatch hgnc.symbol:17116 semapv:UnspecifiedMatching +OMIM:606389 CATSPER1 skos:exactMatch hgnc.symbol:CATSPER1 semapv:UnspecifiedMatching OMIM:606389 CATSPER1 skos:exactMatch ncbigene:117144 semapv:UnspecifiedMatching -OMIM:606393 ADAMDEC1 skos:exactMatch hgnc:ADAMDEC1 semapv:UnspecifiedMatching +OMIM:606393 ADAMDEC1 skos:exactMatch hgnc.symbol:16299 semapv:UnspecifiedMatching +OMIM:606393 ADAMDEC1 skos:exactMatch hgnc.symbol:ADAMDEC1 semapv:UnspecifiedMatching OMIM:606393 ADAMDEC1 skos:exactMatch ncbigene:27299 semapv:UnspecifiedMatching -OMIM:606395 PREB skos:exactMatch hgnc:PREB semapv:UnspecifiedMatching +OMIM:606395 PREB skos:exactMatch hgnc.symbol:9356 semapv:UnspecifiedMatching +OMIM:606395 PREB skos:exactMatch hgnc.symbol:PREB semapv:UnspecifiedMatching OMIM:606395 PREB skos:exactMatch ncbigene:10113 semapv:UnspecifiedMatching -OMIM:606396 BIN3 skos:exactMatch hgnc:BIN3 semapv:UnspecifiedMatching +OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:1054 semapv:UnspecifiedMatching +OMIM:606396 BIN3 skos:exactMatch hgnc.symbol:BIN3 semapv:UnspecifiedMatching OMIM:606396 BIN3 skos:exactMatch ncbigene:55909 semapv:UnspecifiedMatching -OMIM:606397 CLRN1 skos:exactMatch hgnc:CLRN1 semapv:UnspecifiedMatching +OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:12605 semapv:UnspecifiedMatching +OMIM:606397 CLRN1 skos:exactMatch hgnc.symbol:CLRN1 semapv:UnspecifiedMatching OMIM:606397 CLRN1 skos:exactMatch ncbigene:7401 semapv:UnspecifiedMatching -OMIM:606398 ATF5 skos:exactMatch hgnc:ATF5 semapv:UnspecifiedMatching +OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:790 semapv:UnspecifiedMatching +OMIM:606398 ATF5 skos:exactMatch hgnc.symbol:ATF5 semapv:UnspecifiedMatching OMIM:606398 ATF5 skos:exactMatch ncbigene:22809 semapv:UnspecifiedMatching -OMIM:606399 CACNA2D3 skos:exactMatch hgnc:CACNA2D3 semapv:UnspecifiedMatching +OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:15460 semapv:UnspecifiedMatching +OMIM:606399 CACNA2D3 skos:exactMatch hgnc.symbol:CACNA2D3 semapv:UnspecifiedMatching OMIM:606399 CACNA2D3 skos:exactMatch ncbigene:55799 semapv:UnspecifiedMatching -OMIM:606400 CAPN7 skos:exactMatch hgnc:CAPN7 semapv:UnspecifiedMatching +OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:1484 semapv:UnspecifiedMatching +OMIM:606400 CAPN7 skos:exactMatch hgnc.symbol:CAPN7 semapv:UnspecifiedMatching OMIM:606400 CAPN7 skos:exactMatch ncbigene:23473 semapv:UnspecifiedMatching OMIM:606401 CAPN9 skos:exactMatch UMLS:C1413119 semapv:UnspecifiedMatching -OMIM:606401 CAPN9 skos:exactMatch hgnc:CAPN9 semapv:UnspecifiedMatching +OMIM:606401 CAPN9 skos:exactMatch hgnc.symbol:1486 semapv:UnspecifiedMatching +OMIM:606401 CAPN9 skos:exactMatch hgnc.symbol:CAPN9 semapv:UnspecifiedMatching OMIM:606401 CAPN9 skos:exactMatch ncbigene:10753 semapv:UnspecifiedMatching -OMIM:606402 GKN1 skos:exactMatch hgnc:GKN1 semapv:UnspecifiedMatching +OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:23217 semapv:UnspecifiedMatching +OMIM:606402 GKN1 skos:exactMatch hgnc.symbol:GKN1 semapv:UnspecifiedMatching OMIM:606402 GKN1 skos:exactMatch ncbigene:56287 semapv:UnspecifiedMatching -OMIM:606403 CACNG3 skos:exactMatch hgnc:CACNG3 semapv:UnspecifiedMatching +OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:1407 semapv:UnspecifiedMatching +OMIM:606403 CACNG3 skos:exactMatch hgnc.symbol:CACNG3 semapv:UnspecifiedMatching OMIM:606403 CACNG3 skos:exactMatch ncbigene:10368 semapv:UnspecifiedMatching -OMIM:606404 CACNG4 skos:exactMatch hgnc:CACNG4 semapv:UnspecifiedMatching +OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:1408 semapv:UnspecifiedMatching +OMIM:606404 CACNG4 skos:exactMatch hgnc.symbol:CACNG4 semapv:UnspecifiedMatching OMIM:606404 CACNG4 skos:exactMatch ncbigene:27092 semapv:UnspecifiedMatching -OMIM:606405 CACNG5 skos:exactMatch hgnc:CACNG5 semapv:UnspecifiedMatching +OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:1409 semapv:UnspecifiedMatching +OMIM:606405 CACNG5 skos:exactMatch hgnc.symbol:CACNG5 semapv:UnspecifiedMatching OMIM:606405 CACNG5 skos:exactMatch ncbigene:27091 semapv:UnspecifiedMatching -OMIM:606406 NPIPA1 skos:exactMatch hgnc:NPIPA1 semapv:UnspecifiedMatching +OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:7909 semapv:UnspecifiedMatching +OMIM:606406 NPIPA1 skos:exactMatch hgnc.symbol:NPIPA1 semapv:UnspecifiedMatching OMIM:606406 NPIPA1 skos:exactMatch ncbigene:9284 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163693 semapv:UnspecifiedMatching +OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 semapv:UnspecifiedMatching OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch UMLS:C1848030 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch orphanet.ordo:163690 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch orphanet.ordo:163693 semapv:UnspecifiedMatching -OMIM:606407 hypotonia-cystinuria syndrome skos:exactMatch orphanet.ordo:238523 semapv:UnspecifiedMatching OMIM:606409 ITCH skos:exactMatch UMLS:C1422257 semapv:UnspecifiedMatching OMIM:606409 ITCH skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching -OMIM:606409 ITCH skos:exactMatch hgnc:ITCH semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch hgnc.symbol:13890 semapv:UnspecifiedMatching +OMIM:606409 ITCH skos:exactMatch hgnc.symbol:ITCH semapv:UnspecifiedMatching OMIM:606409 ITCH skos:exactMatch ncbigene:83737 semapv:UnspecifiedMatching -OMIM:606410 ANTXR1 skos:exactMatch hgnc:ANTXR1 semapv:UnspecifiedMatching +OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:21014 semapv:UnspecifiedMatching +OMIM:606410 ANTXR1 skos:exactMatch hgnc.symbol:ANTXR1 semapv:UnspecifiedMatching OMIM:606410 ANTXR1 skos:exactMatch ncbigene:84168 semapv:UnspecifiedMatching OMIM:606411 SLC13A3 skos:exactMatch UMLS:C1422640 semapv:UnspecifiedMatching OMIM:606411 SLC13A3 skos:exactMatch UMLS:C5193068 semapv:UnspecifiedMatching -OMIM:606411 SLC13A3 skos:exactMatch hgnc:SLC13A3 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch hgnc.symbol:14430 semapv:UnspecifiedMatching +OMIM:606411 SLC13A3 skos:exactMatch hgnc.symbol:SLC13A3 semapv:UnspecifiedMatching OMIM:606411 SLC13A3 skos:exactMatch ncbigene:64849 semapv:UnspecifiedMatching -OMIM:606412 BSND skos:exactMatch hgnc:BSND semapv:UnspecifiedMatching +OMIM:606412 BSND skos:exactMatch hgnc.symbol:16512 semapv:UnspecifiedMatching +OMIM:606412 BSND skos:exactMatch hgnc.symbol:BSND semapv:UnspecifiedMatching OMIM:606412 BSND skos:exactMatch ncbigene:7809 semapv:UnspecifiedMatching -OMIM:606413 INSL5 skos:exactMatch hgnc:INSL5 semapv:UnspecifiedMatching +OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:6088 semapv:UnspecifiedMatching +OMIM:606413 INSL5 skos:exactMatch hgnc.symbol:INSL5 semapv:UnspecifiedMatching OMIM:606413 INSL5 skos:exactMatch ncbigene:10022 semapv:UnspecifiedMatching -OMIM:606414 INSL6 skos:exactMatch hgnc:INSL6 semapv:UnspecifiedMatching +OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:6089 semapv:UnspecifiedMatching +OMIM:606414 INSL6 skos:exactMatch hgnc.symbol:INSL6 semapv:UnspecifiedMatching OMIM:606414 INSL6 skos:exactMatch ncbigene:11172 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C0268390 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C0409818 semapv:UnspecifiedMatching @@ -21533,102 +29765,144 @@ OMIM:606416 NLRP3 skos:exactMatch UMLS:C1424250 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C1835697 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch UMLS:C4551895 semapv:UnspecifiedMatching -OMIM:606416 NLRP3 skos:exactMatch hgnc:NLRP3 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:16400 semapv:UnspecifiedMatching +OMIM:606416 NLRP3 skos:exactMatch hgnc.symbol:NLRP3 semapv:UnspecifiedMatching OMIM:606416 NLRP3 skos:exactMatch ncbigene:114548 semapv:UnspecifiedMatching -OMIM:606417 WDR11 skos:exactMatch hgnc:WDR11 semapv:UnspecifiedMatching +OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:13831 semapv:UnspecifiedMatching +OMIM:606417 WDR11 skos:exactMatch hgnc.symbol:WDR11 semapv:UnspecifiedMatching OMIM:606417 WDR11 skos:exactMatch ncbigene:55717 semapv:UnspecifiedMatching -OMIM:606418 DHCR24 skos:exactMatch hgnc:DHCR24 semapv:UnspecifiedMatching +OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:2859 semapv:UnspecifiedMatching +OMIM:606418 DHCR24 skos:exactMatch hgnc.symbol:DHCR24 semapv:UnspecifiedMatching OMIM:606418 DHCR24 skos:exactMatch ncbigene:1718 semapv:UnspecifiedMatching -OMIM:606419 PRPF31 skos:exactMatch hgnc:PRPF31 semapv:UnspecifiedMatching +OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:15446 semapv:UnspecifiedMatching +OMIM:606419 PRPF31 skos:exactMatch hgnc.symbol:PRPF31 semapv:UnspecifiedMatching OMIM:606419 PRPF31 skos:exactMatch ncbigene:26121 semapv:UnspecifiedMatching OMIM:606420 ELMO1 skos:exactMatch UMLS:C1424154 semapv:UnspecifiedMatching -OMIM:606420 ELMO1 skos:exactMatch hgnc:ELMO1 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:16286 semapv:UnspecifiedMatching +OMIM:606420 ELMO1 skos:exactMatch hgnc.symbol:ELMO1 semapv:UnspecifiedMatching OMIM:606420 ELMO1 skos:exactMatch ncbigene:9844 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch UMLS:C1424843 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch UMLS:C1847197 semapv:UnspecifiedMatching -OMIM:606421 ELMO2 skos:exactMatch hgnc:ELMO2 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:17233 semapv:UnspecifiedMatching +OMIM:606421 ELMO2 skos:exactMatch hgnc.symbol:ELMO2 semapv:UnspecifiedMatching OMIM:606421 ELMO2 skos:exactMatch ncbigene:63916 semapv:UnspecifiedMatching -OMIM:606422 ELMO3 skos:exactMatch hgnc:ELMO3 semapv:UnspecifiedMatching +OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:17289 semapv:UnspecifiedMatching +OMIM:606422 ELMO3 skos:exactMatch hgnc.symbol:ELMO3 semapv:UnspecifiedMatching OMIM:606422 ELMO3 skos:exactMatch ncbigene:79767 semapv:UnspecifiedMatching -OMIM:606423 DIRC1 skos:exactMatch hgnc:DIRC1 semapv:UnspecifiedMatching +OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:15760 semapv:UnspecifiedMatching +OMIM:606423 DIRC1 skos:exactMatch hgnc.symbol:DIRC1 semapv:UnspecifiedMatching OMIM:606423 DIRC1 skos:exactMatch ncbigene:116093 semapv:UnspecifiedMatching OMIM:606424 EGLN2 skos:exactMatch UMLS:C1422819 semapv:UnspecifiedMatching -OMIM:606424 EGLN2 skos:exactMatch hgnc:EGLN2 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:14660 semapv:UnspecifiedMatching +OMIM:606424 EGLN2 skos:exactMatch hgnc.symbol:EGLN2 semapv:UnspecifiedMatching OMIM:606424 EGLN2 skos:exactMatch ncbigene:112398 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch UMLS:C1412925 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch UMLS:C1836778 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch UMLS:C1853286 semapv:UnspecifiedMatching -OMIM:606425 EGLN1 skos:exactMatch hgnc:EGLN1 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:1232 semapv:UnspecifiedMatching +OMIM:606425 EGLN1 skos:exactMatch hgnc.symbol:EGLN1 semapv:UnspecifiedMatching OMIM:606425 EGLN1 skos:exactMatch ncbigene:54583 semapv:UnspecifiedMatching OMIM:606426 EGLN3 skos:exactMatch UMLS:C1422820 semapv:UnspecifiedMatching -OMIM:606426 EGLN3 skos:exactMatch hgnc:EGLN3 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:14661 semapv:UnspecifiedMatching +OMIM:606426 EGLN3 skos:exactMatch hgnc.symbol:EGLN3 semapv:UnspecifiedMatching OMIM:606426 EGLN3 skos:exactMatch ncbigene:112399 semapv:UnspecifiedMatching -OMIM:606427 ZNF320 skos:exactMatch hgnc:ZNF320 semapv:UnspecifiedMatching +OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:13842 semapv:UnspecifiedMatching +OMIM:606427 ZNF320 skos:exactMatch hgnc.symbol:ZNF320 semapv:UnspecifiedMatching OMIM:606427 ZNF320 skos:exactMatch ncbigene:162967 semapv:UnspecifiedMatching -OMIM:606428 UGT1A3 skos:exactMatch hgnc:UGT1A3 semapv:UnspecifiedMatching +OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:12535 semapv:UnspecifiedMatching +OMIM:606428 UGT1A3 skos:exactMatch hgnc.symbol:UGT1A3 semapv:UnspecifiedMatching OMIM:606428 UGT1A3 skos:exactMatch ncbigene:54659 semapv:UnspecifiedMatching -OMIM:606429 UGT1A4 skos:exactMatch hgnc:UGT1A4 semapv:UnspecifiedMatching +OMIM:606429 UGT1A4 skos:exactMatch hgnc.symbol:12536 semapv:UnspecifiedMatching +OMIM:606429 UGT1A4 skos:exactMatch hgnc.symbol:UGT1A4 semapv:UnspecifiedMatching OMIM:606429 UGT1A4 skos:exactMatch ncbigene:54657 semapv:UnspecifiedMatching -OMIM:606430 UGT1A5 skos:exactMatch hgnc:UGT1A5 semapv:UnspecifiedMatching +OMIM:606430 UGT1A5 skos:exactMatch hgnc.symbol:12537 semapv:UnspecifiedMatching +OMIM:606430 UGT1A5 skos:exactMatch hgnc.symbol:UGT1A5 semapv:UnspecifiedMatching OMIM:606430 UGT1A5 skos:exactMatch ncbigene:54579 semapv:UnspecifiedMatching -OMIM:606431 UGT1A6 skos:exactMatch hgnc:UGT1A6 semapv:UnspecifiedMatching +OMIM:606431 UGT1A6 skos:exactMatch hgnc.symbol:12538 semapv:UnspecifiedMatching +OMIM:606431 UGT1A6 skos:exactMatch hgnc.symbol:UGT1A6 semapv:UnspecifiedMatching OMIM:606431 UGT1A6 skos:exactMatch ncbigene:54578 semapv:UnspecifiedMatching -OMIM:606432 UGT1A7 skos:exactMatch hgnc:UGT1A7 semapv:UnspecifiedMatching +OMIM:606432 UGT1A7 skos:exactMatch hgnc.symbol:12539 semapv:UnspecifiedMatching +OMIM:606432 UGT1A7 skos:exactMatch hgnc.symbol:UGT1A7 semapv:UnspecifiedMatching OMIM:606432 UGT1A7 skos:exactMatch ncbigene:54577 semapv:UnspecifiedMatching -OMIM:606433 UGT1A8 skos:exactMatch hgnc:UGT1A8 semapv:UnspecifiedMatching +OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:12540 semapv:UnspecifiedMatching +OMIM:606433 UGT1A8 skos:exactMatch hgnc.symbol:UGT1A8 semapv:UnspecifiedMatching OMIM:606433 UGT1A8 skos:exactMatch ncbigene:54576 semapv:UnspecifiedMatching -OMIM:606434 UGT1A9 skos:exactMatch hgnc:UGT1A9 semapv:UnspecifiedMatching +OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:12541 semapv:UnspecifiedMatching +OMIM:606434 UGT1A9 skos:exactMatch hgnc.symbol:UGT1A9 semapv:UnspecifiedMatching OMIM:606434 UGT1A9 skos:exactMatch ncbigene:54600 semapv:UnspecifiedMatching -OMIM:606435 UGT1A10 skos:exactMatch hgnc:UGT1A10 semapv:UnspecifiedMatching +OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:12531 semapv:UnspecifiedMatching +OMIM:606435 UGT1A10 skos:exactMatch hgnc.symbol:UGT1A10 semapv:UnspecifiedMatching OMIM:606435 UGT1A10 skos:exactMatch ncbigene:54575 semapv:UnspecifiedMatching -OMIM:606436 SYT12 skos:exactMatch hgnc:SYT12 semapv:UnspecifiedMatching +OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:18381 semapv:UnspecifiedMatching +OMIM:606436 SYT12 skos:exactMatch hgnc.symbol:SYT12 semapv:UnspecifiedMatching OMIM:606436 SYT12 skos:exactMatch ncbigene:91683 semapv:UnspecifiedMatching -OMIM:606439 ATL1 skos:exactMatch hgnc:ATL1 semapv:UnspecifiedMatching +OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:11231 semapv:UnspecifiedMatching +OMIM:606439 ATL1 skos:exactMatch hgnc.symbol:ATL1 semapv:UnspecifiedMatching OMIM:606439 ATL1 skos:exactMatch ncbigene:51062 semapv:UnspecifiedMatching -OMIM:606440 STRC skos:exactMatch hgnc:STRC semapv:UnspecifiedMatching +OMIM:606440 STRC skos:exactMatch hgnc.symbol:16035 semapv:UnspecifiedMatching +OMIM:606440 STRC skos:exactMatch hgnc.symbol:STRC semapv:UnspecifiedMatching OMIM:606440 STRC skos:exactMatch ncbigene:161497 semapv:UnspecifiedMatching -OMIM:606441 HTRA2 skos:exactMatch hgnc:HTRA2 semapv:UnspecifiedMatching +OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:14348 semapv:UnspecifiedMatching +OMIM:606441 HTRA2 skos:exactMatch hgnc.symbol:HTRA2 semapv:UnspecifiedMatching OMIM:606441 HTRA2 skos:exactMatch ncbigene:27429 semapv:UnspecifiedMatching -OMIM:606442 ABI2 skos:exactMatch hgnc:ABI2 semapv:UnspecifiedMatching +OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:24011 semapv:UnspecifiedMatching +OMIM:606442 ABI2 skos:exactMatch hgnc.symbol:ABI2 semapv:UnspecifiedMatching OMIM:606442 ABI2 skos:exactMatch ncbigene:10152 semapv:UnspecifiedMatching -OMIM:606443 CREB3 skos:exactMatch hgnc:CREB3 semapv:UnspecifiedMatching +OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:2347 semapv:UnspecifiedMatching +OMIM:606443 CREB3 skos:exactMatch hgnc.symbol:CREB3 semapv:UnspecifiedMatching OMIM:606443 CREB3 skos:exactMatch ncbigene:10488 semapv:UnspecifiedMatching -OMIM:606444 CREBZF skos:exactMatch hgnc:CREBZF semapv:UnspecifiedMatching +OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:24905 semapv:UnspecifiedMatching +OMIM:606444 CREBZF skos:exactMatch hgnc.symbol:CREBZF semapv:UnspecifiedMatching OMIM:606444 CREBZF skos:exactMatch ncbigene:58487 semapv:UnspecifiedMatching -OMIM:606446 SLAMF6 skos:exactMatch hgnc:SLAMF6 semapv:UnspecifiedMatching +OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:21392 semapv:UnspecifiedMatching +OMIM:606446 SLAMF6 skos:exactMatch hgnc.symbol:SLAMF6 semapv:UnspecifiedMatching OMIM:606446 SLAMF6 skos:exactMatch ncbigene:114836 semapv:UnspecifiedMatching -OMIM:606447 RNPS1 skos:exactMatch hgnc:RNPS1 semapv:UnspecifiedMatching +OMIM:606447 RNPS1 skos:exactMatch hgnc.symbol:10080 semapv:UnspecifiedMatching +OMIM:606447 RNPS1 skos:exactMatch hgnc.symbol:RNPS1 semapv:UnspecifiedMatching OMIM:606447 RNPS1 skos:exactMatch ncbigene:10921 semapv:UnspecifiedMatching -OMIM:606448 TXNRD2 skos:exactMatch hgnc:TXNRD2 semapv:UnspecifiedMatching +OMIM:606448 TXNRD2 skos:exactMatch hgnc.symbol:18155 semapv:UnspecifiedMatching +OMIM:606448 TXNRD2 skos:exactMatch hgnc.symbol:TXNRD2 semapv:UnspecifiedMatching OMIM:606448 TXNRD2 skos:exactMatch ncbigene:10587 semapv:UnspecifiedMatching -OMIM:606449 PTP4A3 skos:exactMatch hgnc:PTP4A3 semapv:UnspecifiedMatching +OMIM:606449 PTP4A3 skos:exactMatch hgnc.symbol:9636 semapv:UnspecifiedMatching +OMIM:606449 PTP4A3 skos:exactMatch hgnc.symbol:PTP4A3 semapv:UnspecifiedMatching OMIM:606449 PTP4A3 skos:exactMatch ncbigene:11156 semapv:UnspecifiedMatching -OMIM:606450 NET1 skos:exactMatch hgnc:NET1 semapv:UnspecifiedMatching +OMIM:606450 NET1 skos:exactMatch hgnc.symbol:14592 semapv:UnspecifiedMatching +OMIM:606450 NET1 skos:exactMatch hgnc.symbol:NET1 semapv:UnspecifiedMatching OMIM:606450 NET1 skos:exactMatch ncbigene:10276 semapv:UnspecifiedMatching -OMIM:606452 ZMAT3 skos:exactMatch hgnc:ZMAT3 semapv:UnspecifiedMatching +OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:29983 semapv:UnspecifiedMatching +OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:ZMAT3 semapv:UnspecifiedMatching OMIM:606452 ZMAT3 skos:exactMatch ncbigene:64393 semapv:UnspecifiedMatching -OMIM:606453 LRBA skos:exactMatch hgnc:LRBA semapv:UnspecifiedMatching +OMIM:606453 LRBA skos:exactMatch hgnc.symbol:1742 semapv:UnspecifiedMatching +OMIM:606453 LRBA skos:exactMatch hgnc.symbol:LRBA semapv:UnspecifiedMatching OMIM:606453 LRBA skos:exactMatch ncbigene:987 semapv:UnspecifiedMatching -OMIM:606454 EIF2B2 skos:exactMatch hgnc:EIF2B2 semapv:UnspecifiedMatching +OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:3258 semapv:UnspecifiedMatching +OMIM:606454 EIF2B2 skos:exactMatch hgnc.symbol:EIF2B2 semapv:UnspecifiedMatching OMIM:606454 EIF2B2 skos:exactMatch ncbigene:8892 semapv:UnspecifiedMatching -OMIM:606455 PPP1R13B skos:exactMatch hgnc:PPP1R13B semapv:UnspecifiedMatching +OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:14950 semapv:UnspecifiedMatching +OMIM:606455 PPP1R13B skos:exactMatch hgnc.symbol:PPP1R13B semapv:UnspecifiedMatching OMIM:606455 PPP1R13B skos:exactMatch ncbigene:23368 semapv:UnspecifiedMatching -OMIM:606456 NPM3 skos:exactMatch hgnc:NPM3 semapv:UnspecifiedMatching +OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:7931 semapv:UnspecifiedMatching +OMIM:606456 NPM3 skos:exactMatch hgnc.symbol:NPM3 semapv:UnspecifiedMatching OMIM:606456 NPM3 skos:exactMatch ncbigene:10360 semapv:UnspecifiedMatching -OMIM:606457 IBTK skos:exactMatch hgnc:IBTK semapv:UnspecifiedMatching +OMIM:606457 IBTK skos:exactMatch hgnc.symbol:17853 semapv:UnspecifiedMatching +OMIM:606457 IBTK skos:exactMatch hgnc.symbol:IBTK semapv:UnspecifiedMatching OMIM:606457 IBTK skos:exactMatch ncbigene:25998 semapv:UnspecifiedMatching -OMIM:606458 CSRNP1 skos:exactMatch hgnc:CSRNP1 semapv:UnspecifiedMatching +OMIM:606458 CSRNP1 skos:exactMatch hgnc.symbol:14300 semapv:UnspecifiedMatching +OMIM:606458 CSRNP1 skos:exactMatch hgnc.symbol:CSRNP1 semapv:UnspecifiedMatching OMIM:606458 CSRNP1 skos:exactMatch ncbigene:64651 semapv:UnspecifiedMatching -OMIM:606459 OGFR skos:exactMatch hgnc:OGFR semapv:UnspecifiedMatching +OMIM:606459 OGFR skos:exactMatch hgnc.symbol:15768 semapv:UnspecifiedMatching +OMIM:606459 OGFR skos:exactMatch hgnc.symbol:OGFR semapv:UnspecifiedMatching OMIM:606459 OGFR skos:exactMatch ncbigene:11054 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch UMLS:C1869126 semapv:UnspecifiedMatching -OMIM:606461 TGS1 skos:exactMatch hgnc:TGS1 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:17843 semapv:UnspecifiedMatching +OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:TGS1 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch ncbigene:96764 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch UMLS:C1419235 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch UMLS:C1969653 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch UMLS:C5394577 semapv:UnspecifiedMatching -OMIM:606462 RAD21 skos:exactMatch hgnc:RAD21 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:9811 semapv:UnspecifiedMatching +OMIM:606462 RAD21 skos:exactMatch hgnc.symbol:RAD21 semapv:UnspecifiedMatching OMIM:606462 RAD21 skos:exactMatch ncbigene:5885 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C0268250 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C0268251 semapv:UnspecifiedMatching @@ -21639,295 +29913,422 @@ OMIM:606463 GBA skos:exactMatch UMLS:C1856476 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C1961835 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C2676021 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch UMLS:C3148775 semapv:UnspecifiedMatching -OMIM:606463 GBA skos:exactMatch hgnc:GBA1 semapv:UnspecifiedMatching +OMIM:606463 GBA skos:exactMatch hgnc.symbol:GBA1 semapv:UnspecifiedMatching OMIM:606463 GBA skos:exactMatch ncbigene:2629 semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch UMLS:C1423607 semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch UMLS:C1865616 semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch UMLS:C3150862 semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch UMLS:C4016968 semapv:UnspecifiedMatching -OMIM:606464 HAMP skos:exactMatch hgnc:HAMP semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch hgnc.symbol:15598 semapv:UnspecifiedMatching +OMIM:606464 HAMP skos:exactMatch hgnc.symbol:HAMP semapv:UnspecifiedMatching OMIM:606464 HAMP skos:exactMatch ncbigene:57817 semapv:UnspecifiedMatching -OMIM:606465 KLF15 skos:exactMatch hgnc:KLF15 semapv:UnspecifiedMatching +OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:14536 semapv:UnspecifiedMatching +OMIM:606465 KLF15 skos:exactMatch hgnc.symbol:KLF15 semapv:UnspecifiedMatching OMIM:606465 KLF15 skos:exactMatch ncbigene:28999 semapv:UnspecifiedMatching -OMIM:606466 PRAM1 skos:exactMatch hgnc:PRAM1 semapv:UnspecifiedMatching +OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:30091 semapv:UnspecifiedMatching +OMIM:606466 PRAM1 skos:exactMatch hgnc.symbol:PRAM1 semapv:UnspecifiedMatching OMIM:606466 PRAM1 skos:exactMatch ncbigene:84106 semapv:UnspecifiedMatching -OMIM:606467 ALDH8A1 skos:exactMatch hgnc:ALDH8A1 semapv:UnspecifiedMatching +OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:15471 semapv:UnspecifiedMatching +OMIM:606467 ALDH8A1 skos:exactMatch hgnc.symbol:ALDH8A1 semapv:UnspecifiedMatching OMIM:606467 ALDH8A1 skos:exactMatch ncbigene:64577 semapv:UnspecifiedMatching -OMIM:606468 GAR1 skos:exactMatch hgnc:GAR1 semapv:UnspecifiedMatching +OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:14264 semapv:UnspecifiedMatching +OMIM:606468 GAR1 skos:exactMatch hgnc.symbol:GAR1 semapv:UnspecifiedMatching OMIM:606468 GAR1 skos:exactMatch ncbigene:54433 semapv:UnspecifiedMatching -OMIM:606469 RNF29 skos:exactMatch hgnc:TRIM55 semapv:UnspecifiedMatching +OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:14215 semapv:UnspecifiedMatching +OMIM:606469 RNF29 skos:exactMatch hgnc.symbol:TRIM55 semapv:UnspecifiedMatching OMIM:606469 RNF29 skos:exactMatch ncbigene:84675 semapv:UnspecifiedMatching -OMIM:606470 NHP2 skos:exactMatch hgnc:NHP2 semapv:UnspecifiedMatching +OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:14377 semapv:UnspecifiedMatching +OMIM:606470 NHP2 skos:exactMatch hgnc.symbol:NHP2 semapv:UnspecifiedMatching OMIM:606470 NHP2 skos:exactMatch ncbigene:55651 semapv:UnspecifiedMatching -OMIM:606471 NOP10 skos:exactMatch hgnc:NOP10 semapv:UnspecifiedMatching +OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:14378 semapv:UnspecifiedMatching +OMIM:606471 NOP10 skos:exactMatch hgnc.symbol:NOP10 semapv:UnspecifiedMatching OMIM:606471 NOP10 skos:exactMatch ncbigene:55505 semapv:UnspecifiedMatching -OMIM:606472 SS18L1 skos:exactMatch hgnc:SS18L1 semapv:UnspecifiedMatching +OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:15592 semapv:UnspecifiedMatching +OMIM:606472 SS18L1 skos:exactMatch hgnc.symbol:SS18L1 semapv:UnspecifiedMatching OMIM:606472 SS18L1 skos:exactMatch ncbigene:26039 semapv:UnspecifiedMatching -OMIM:606473 SS18L2 skos:exactMatch hgnc:SS18L2 semapv:UnspecifiedMatching +OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:15593 semapv:UnspecifiedMatching +OMIM:606473 SS18L2 skos:exactMatch hgnc.symbol:SS18L2 semapv:UnspecifiedMatching OMIM:606473 SS18L2 skos:exactMatch ncbigene:51188 semapv:UnspecifiedMatching -OMIM:606474 RNF30 skos:exactMatch hgnc:TRIM54 semapv:UnspecifiedMatching +OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:16008 semapv:UnspecifiedMatching +OMIM:606474 RNF30 skos:exactMatch hgnc.symbol:TRIM54 semapv:UnspecifiedMatching OMIM:606474 RNF30 skos:exactMatch ncbigene:57159 semapv:UnspecifiedMatching -OMIM:606475 CD320 skos:exactMatch hgnc:CD320 semapv:UnspecifiedMatching +OMIM:606475 CD320 skos:exactMatch hgnc.symbol:16692 semapv:UnspecifiedMatching +OMIM:606475 CD320 skos:exactMatch hgnc.symbol:CD320 semapv:UnspecifiedMatching OMIM:606475 CD320 skos:exactMatch ncbigene:51293 semapv:UnspecifiedMatching OMIM:606476 ITPKC skos:exactMatch UMLS:C1423036 semapv:UnspecifiedMatching OMIM:606476 ITPKC skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606476 ITPKC skos:exactMatch hgnc:ITPKC semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:14897 semapv:UnspecifiedMatching +OMIM:606476 ITPKC skos:exactMatch hgnc.symbol:ITPKC semapv:UnspecifiedMatching OMIM:606476 ITPKC skos:exactMatch ncbigene:80271 semapv:UnspecifiedMatching -OMIM:606477 SRR skos:exactMatch hgnc:SRR semapv:UnspecifiedMatching +OMIM:606477 SRR skos:exactMatch hgnc.symbol:14398 semapv:UnspecifiedMatching +OMIM:606477 SRR skos:exactMatch hgnc.symbol:SRR semapv:UnspecifiedMatching OMIM:606477 SRR skos:exactMatch ncbigene:63826 semapv:UnspecifiedMatching -OMIM:606478 POT1 skos:exactMatch hgnc:POT1 semapv:UnspecifiedMatching +OMIM:606478 POT1 skos:exactMatch hgnc.symbol:17284 semapv:UnspecifiedMatching +OMIM:606478 POT1 skos:exactMatch hgnc.symbol:POT1 semapv:UnspecifiedMatching OMIM:606478 POT1 skos:exactMatch ncbigene:25913 semapv:UnspecifiedMatching -OMIM:606479 NLGN2 skos:exactMatch hgnc:NLGN2 semapv:UnspecifiedMatching +OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:14290 semapv:UnspecifiedMatching +OMIM:606479 NLGN2 skos:exactMatch hgnc.symbol:NLGN2 semapv:UnspecifiedMatching OMIM:606479 NLGN2 skos:exactMatch ncbigene:57555 semapv:UnspecifiedMatching -OMIM:606480 ZMPSTE24 skos:exactMatch hgnc:ZMPSTE24 semapv:UnspecifiedMatching +OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:12877 semapv:UnspecifiedMatching +OMIM:606480 ZMPSTE24 skos:exactMatch hgnc.symbol:ZMPSTE24 semapv:UnspecifiedMatching OMIM:606480 ZMPSTE24 skos:exactMatch ncbigene:10269 semapv:UnspecifiedMatching -OMIM:606481 PIB5PA skos:exactMatch hgnc:INPP5J semapv:UnspecifiedMatching +OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:8956 semapv:UnspecifiedMatching +OMIM:606481 PIB5PA skos:exactMatch hgnc.symbol:INPP5J semapv:UnspecifiedMatching OMIM:606481 PIB5PA skos:exactMatch ncbigene:27124 semapv:UnspecifiedMatching -OMIM:606484 MTPN skos:exactMatch hgnc:MTPN semapv:UnspecifiedMatching +OMIM:606484 MTPN skos:exactMatch hgnc.symbol:15667 semapv:UnspecifiedMatching +OMIM:606484 MTPN skos:exactMatch hgnc.symbol:MTPN semapv:UnspecifiedMatching OMIM:606484 MTPN skos:exactMatch ncbigene:136319 semapv:UnspecifiedMatching -OMIM:606485 POLR2M skos:exactMatch hgnc:POLR2M semapv:UnspecifiedMatching +OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:14862 semapv:UnspecifiedMatching +OMIM:606485 POLR2M skos:exactMatch hgnc.symbol:POLR2M semapv:UnspecifiedMatching OMIM:606485 POLR2M skos:exactMatch ncbigene:81488 semapv:UnspecifiedMatching OMIM:606486 CHMP1B skos:exactMatch UMLS:C1538454 semapv:UnspecifiedMatching -OMIM:606486 CHMP1B skos:exactMatch hgnc:CHMP1B semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:24287 semapv:UnspecifiedMatching +OMIM:606486 CHMP1B skos:exactMatch hgnc.symbol:CHMP1B semapv:UnspecifiedMatching OMIM:606486 CHMP1B skos:exactMatch ncbigene:57132 semapv:UnspecifiedMatching -OMIM:606487 PLAAT1 skos:exactMatch hgnc:PLAAT1 semapv:UnspecifiedMatching +OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:14922 semapv:UnspecifiedMatching +OMIM:606487 PLAAT1 skos:exactMatch hgnc.symbol:PLAAT1 semapv:UnspecifiedMatching OMIM:606487 PLAAT1 skos:exactMatch ncbigene:57110 semapv:UnspecifiedMatching -OMIM:606488 EXOSC7 skos:exactMatch hgnc:EXOSC7 semapv:UnspecifiedMatching +OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:28112 semapv:UnspecifiedMatching +OMIM:606488 EXOSC7 skos:exactMatch hgnc.symbol:EXOSC7 semapv:UnspecifiedMatching OMIM:606488 EXOSC7 skos:exactMatch ncbigene:23016 semapv:UnspecifiedMatching -OMIM:606489 EXOSC3 skos:exactMatch hgnc:EXOSC3 semapv:UnspecifiedMatching +OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:17944 semapv:UnspecifiedMatching +OMIM:606489 EXOSC3 skos:exactMatch hgnc.symbol:EXOSC3 semapv:UnspecifiedMatching OMIM:606489 EXOSC3 skos:exactMatch ncbigene:51010 semapv:UnspecifiedMatching -OMIM:606490 EXOSC6 skos:exactMatch hgnc:EXOSC6 semapv:UnspecifiedMatching +OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:19055 semapv:UnspecifiedMatching +OMIM:606490 EXOSC6 skos:exactMatch hgnc.symbol:EXOSC6 semapv:UnspecifiedMatching OMIM:606490 EXOSC6 skos:exactMatch ncbigene:118460 semapv:UnspecifiedMatching -OMIM:606491 EXOSC4 skos:exactMatch hgnc:EXOSC4 semapv:UnspecifiedMatching +OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:18189 semapv:UnspecifiedMatching +OMIM:606491 EXOSC4 skos:exactMatch hgnc.symbol:EXOSC4 semapv:UnspecifiedMatching OMIM:606491 EXOSC4 skos:exactMatch ncbigene:54512 semapv:UnspecifiedMatching -OMIM:606492 EXOSC5 skos:exactMatch hgnc:EXOSC5 semapv:UnspecifiedMatching +OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:24662 semapv:UnspecifiedMatching +OMIM:606492 EXOSC5 skos:exactMatch hgnc.symbol:EXOSC5 semapv:UnspecifiedMatching OMIM:606492 EXOSC5 skos:exactMatch ncbigene:56915 semapv:UnspecifiedMatching -OMIM:606493 EXOSC1 skos:exactMatch hgnc:EXOSC1 semapv:UnspecifiedMatching +OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:17286 semapv:UnspecifiedMatching +OMIM:606493 EXOSC1 skos:exactMatch hgnc.symbol:EXOSC1 semapv:UnspecifiedMatching OMIM:606493 EXOSC1 skos:exactMatch ncbigene:51013 semapv:UnspecifiedMatching OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1539861 semapv:UnspecifiedMatching OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C1970200 semapv:UnspecifiedMatching OMIM:606494 ST3GAL3 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching -OMIM:606494 ST3GAL3 skos:exactMatch hgnc:ST3GAL3 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:10866 semapv:UnspecifiedMatching +OMIM:606494 ST3GAL3 skos:exactMatch hgnc.symbol:ST3GAL3 semapv:UnspecifiedMatching OMIM:606494 ST3GAL3 skos:exactMatch ncbigene:6487 semapv:UnspecifiedMatching -OMIM:606495 MARK4 skos:exactMatch hgnc:MARK4 semapv:UnspecifiedMatching +OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:13538 semapv:UnspecifiedMatching +OMIM:606495 MARK4 skos:exactMatch hgnc.symbol:MARK4 semapv:UnspecifiedMatching OMIM:606495 MARK4 skos:exactMatch ncbigene:57787 semapv:UnspecifiedMatching -OMIM:606496 IL17F skos:exactMatch hgnc:IL17F semapv:UnspecifiedMatching +OMIM:606496 IL17F skos:exactMatch hgnc.symbol:16404 semapv:UnspecifiedMatching +OMIM:606496 IL17F skos:exactMatch hgnc.symbol:IL17F semapv:UnspecifiedMatching OMIM:606496 IL17F skos:exactMatch ncbigene:112744 semapv:UnspecifiedMatching -OMIM:606497 UGT2B28 skos:exactMatch hgnc:UGT2B28 semapv:UnspecifiedMatching +OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:13479 semapv:UnspecifiedMatching +OMIM:606497 UGT2B28 skos:exactMatch hgnc.symbol:UGT2B28 semapv:UnspecifiedMatching OMIM:606497 UGT2B28 skos:exactMatch ncbigene:54490 semapv:UnspecifiedMatching -OMIM:606498 MS4A3 skos:exactMatch hgnc:MS4A3 semapv:UnspecifiedMatching +OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:7317 semapv:UnspecifiedMatching +OMIM:606498 MS4A3 skos:exactMatch hgnc.symbol:MS4A3 semapv:UnspecifiedMatching OMIM:606498 MS4A3 skos:exactMatch ncbigene:932 semapv:UnspecifiedMatching -OMIM:606499 MS4A5 skos:exactMatch hgnc:MS4A5 semapv:UnspecifiedMatching +OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:13374 semapv:UnspecifiedMatching +OMIM:606499 MS4A5 skos:exactMatch hgnc.symbol:MS4A5 semapv:UnspecifiedMatching OMIM:606499 MS4A5 skos:exactMatch ncbigene:64232 semapv:UnspecifiedMatching -OMIM:606500 SCGB3A1 skos:exactMatch hgnc:SCGB3A1 semapv:UnspecifiedMatching +OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:18384 semapv:UnspecifiedMatching +OMIM:606500 SCGB3A1 skos:exactMatch hgnc.symbol:SCGB3A1 semapv:UnspecifiedMatching OMIM:606500 SCGB3A1 skos:exactMatch ncbigene:92304 semapv:UnspecifiedMatching -OMIM:606501 MTMR12 skos:exactMatch hgnc:MTMR12 semapv:UnspecifiedMatching +OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:18191 semapv:UnspecifiedMatching +OMIM:606501 MTMR12 skos:exactMatch hgnc.symbol:MTMR12 semapv:UnspecifiedMatching OMIM:606501 MTMR12 skos:exactMatch ncbigene:54545 semapv:UnspecifiedMatching -OMIM:606502 MS4A7 skos:exactMatch hgnc:MS4A7 semapv:UnspecifiedMatching +OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:13378 semapv:UnspecifiedMatching +OMIM:606502 MS4A7 skos:exactMatch hgnc.symbol:MS4A7 semapv:UnspecifiedMatching OMIM:606502 MS4A7 skos:exactMatch ncbigene:58475 semapv:UnspecifiedMatching -OMIM:606503 SUV39H2 skos:exactMatch hgnc:SUV39H2 semapv:UnspecifiedMatching +OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:17287 semapv:UnspecifiedMatching +OMIM:606503 SUV39H2 skos:exactMatch hgnc.symbol:SUV39H2 semapv:UnspecifiedMatching OMIM:606503 SUV39H2 skos:exactMatch ncbigene:79723 semapv:UnspecifiedMatching -OMIM:606504 CASC3 skos:exactMatch hgnc:CASC3 semapv:UnspecifiedMatching +OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:17040 semapv:UnspecifiedMatching +OMIM:606504 CASC3 skos:exactMatch hgnc.symbol:CASC3 semapv:UnspecifiedMatching OMIM:606504 CASC3 skos:exactMatch ncbigene:22794 semapv:UnspecifiedMatching -OMIM:606505 PINX1 skos:exactMatch hgnc:PINX1 semapv:UnspecifiedMatching +OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:30046 semapv:UnspecifiedMatching +OMIM:606505 PINX1 skos:exactMatch hgnc.symbol:PINX1 semapv:UnspecifiedMatching OMIM:606505 PINX1 skos:exactMatch ncbigene:54984 semapv:UnspecifiedMatching -OMIM:606508 FCRL1 skos:exactMatch hgnc:FCRL1 semapv:UnspecifiedMatching +OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:18509 semapv:UnspecifiedMatching +OMIM:606508 FCRL1 skos:exactMatch hgnc.symbol:FCRL1 semapv:UnspecifiedMatching OMIM:606508 FCRL1 skos:exactMatch ncbigene:115350 semapv:UnspecifiedMatching -OMIM:606509 FCRL2 skos:exactMatch hgnc:FCRL2 semapv:UnspecifiedMatching +OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:14875 semapv:UnspecifiedMatching +OMIM:606509 FCRL2 skos:exactMatch hgnc.symbol:FCRL2 semapv:UnspecifiedMatching OMIM:606509 FCRL2 skos:exactMatch ncbigene:79368 semapv:UnspecifiedMatching -OMIM:606510 FCRL3 skos:exactMatch hgnc:FCRL3 semapv:UnspecifiedMatching +OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:18506 semapv:UnspecifiedMatching +OMIM:606510 FCRL3 skos:exactMatch hgnc.symbol:FCRL3 semapv:UnspecifiedMatching OMIM:606510 FCRL3 skos:exactMatch ncbigene:115352 semapv:UnspecifiedMatching -OMIM:606511 MARK1 skos:exactMatch hgnc:MARK1 semapv:UnspecifiedMatching +OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:6896 semapv:UnspecifiedMatching +OMIM:606511 MARK1 skos:exactMatch hgnc.symbol:MARK1 semapv:UnspecifiedMatching OMIM:606511 MARK1 skos:exactMatch ncbigene:4139 semapv:UnspecifiedMatching -OMIM:606512 PACSIN1 skos:exactMatch hgnc:PACSIN1 semapv:UnspecifiedMatching +OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:8570 semapv:UnspecifiedMatching +OMIM:606512 PACSIN1 skos:exactMatch hgnc.symbol:PACSIN1 semapv:UnspecifiedMatching OMIM:606512 PACSIN1 skos:exactMatch ncbigene:29993 semapv:UnspecifiedMatching -OMIM:606513 PACSIN3 skos:exactMatch hgnc:PACSIN3 semapv:UnspecifiedMatching +OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:8572 semapv:UnspecifiedMatching +OMIM:606513 PACSIN3 skos:exactMatch hgnc.symbol:PACSIN3 semapv:UnspecifiedMatching OMIM:606513 PACSIN3 skos:exactMatch ncbigene:29763 semapv:UnspecifiedMatching -OMIM:606514 CYTH4 skos:exactMatch hgnc:CYTH4 semapv:UnspecifiedMatching +OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:9505 semapv:UnspecifiedMatching +OMIM:606514 CYTH4 skos:exactMatch hgnc.symbol:CYTH4 semapv:UnspecifiedMatching OMIM:606514 CYTH4 skos:exactMatch ncbigene:27128 semapv:UnspecifiedMatching -OMIM:606515 RN7SK skos:exactMatch hgnc:RN7SK semapv:UnspecifiedMatching +OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:10037 semapv:UnspecifiedMatching +OMIM:606515 RN7SK skos:exactMatch hgnc.symbol:RN7SK semapv:UnspecifiedMatching OMIM:606515 RN7SK skos:exactMatch ncbigene:125050 semapv:UnspecifiedMatching -OMIM:606516 MBNL1 skos:exactMatch hgnc:MBNL1 semapv:UnspecifiedMatching +OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:6923 semapv:UnspecifiedMatching +OMIM:606516 MBNL1 skos:exactMatch hgnc.symbol:MBNL1 semapv:UnspecifiedMatching OMIM:606516 MBNL1 skos:exactMatch ncbigene:4154 semapv:UnspecifiedMatching -OMIM:606517 AHRR skos:exactMatch hgnc:AHRR semapv:UnspecifiedMatching +OMIM:606517 AHRR skos:exactMatch hgnc.symbol:346 semapv:UnspecifiedMatching +OMIM:606517 AHRR skos:exactMatch hgnc.symbol:AHRR semapv:UnspecifiedMatching OMIM:606517 AHRR skos:exactMatch ncbigene:57491 semapv:UnspecifiedMatching -OMIM:606518 HAVCR1 skos:exactMatch hgnc:HAVCR1 semapv:UnspecifiedMatching +OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:17866 semapv:UnspecifiedMatching +OMIM:606518 HAVCR1 skos:exactMatch hgnc.symbol:HAVCR1 semapv:UnspecifiedMatching OMIM:606518 HAVCR1 skos:exactMatch ncbigene:26762 semapv:UnspecifiedMatching +OMIM:606519 phace association skos:exactMatch Orphanet:42775 semapv:UnspecifiedMatching OMIM:606519 phace association skos:exactMatch UMLS:C1847874 semapv:UnspecifiedMatching -OMIM:606519 phace association skos:exactMatch orphanet.ordo:42775 semapv:UnspecifiedMatching -OMIM:606520 MPIG6B skos:exactMatch hgnc:MPIG6B semapv:UnspecifiedMatching +OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:13937 semapv:UnspecifiedMatching +OMIM:606520 MPIG6B skos:exactMatch hgnc.symbol:MPIG6B semapv:UnspecifiedMatching OMIM:606520 MPIG6B skos:exactMatch ncbigene:80739 semapv:UnspecifiedMatching -OMIM:606521 SLC25A19 skos:exactMatch hgnc:SLC25A19 semapv:UnspecifiedMatching +OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:14409 semapv:UnspecifiedMatching +OMIM:606521 SLC25A19 skos:exactMatch hgnc.symbol:SLC25A19 semapv:UnspecifiedMatching OMIM:606521 SLC25A19 skos:exactMatch ncbigene:60386 semapv:UnspecifiedMatching -OMIM:606522 GDF3 skos:exactMatch hgnc:GDF3 semapv:UnspecifiedMatching +OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:4218 semapv:UnspecifiedMatching +OMIM:606522 GDF3 skos:exactMatch hgnc.symbol:GDF3 semapv:UnspecifiedMatching OMIM:606522 GDF3 skos:exactMatch ncbigene:9573 semapv:UnspecifiedMatching -OMIM:606523 SRGAP1 skos:exactMatch hgnc:SRGAP1 semapv:UnspecifiedMatching +OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:17382 semapv:UnspecifiedMatching +OMIM:606523 SRGAP1 skos:exactMatch hgnc.symbol:SRGAP1 semapv:UnspecifiedMatching OMIM:606523 SRGAP1 skos:exactMatch ncbigene:57522 semapv:UnspecifiedMatching -OMIM:606524 SRGAP2 skos:exactMatch hgnc:SRGAP2 semapv:UnspecifiedMatching +OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:19751 semapv:UnspecifiedMatching +OMIM:606524 SRGAP2 skos:exactMatch hgnc.symbol:SRGAP2 semapv:UnspecifiedMatching OMIM:606524 SRGAP2 skos:exactMatch ncbigene:23380 semapv:UnspecifiedMatching -OMIM:606525 SRGAP3 skos:exactMatch hgnc:SRGAP3 semapv:UnspecifiedMatching +OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:19744 semapv:UnspecifiedMatching +OMIM:606525 SRGAP3 skos:exactMatch hgnc.symbol:SRGAP3 semapv:UnspecifiedMatching OMIM:606525 SRGAP3 skos:exactMatch ncbigene:9901 semapv:UnspecifiedMatching -OMIM:606526 MLPH skos:exactMatch hgnc:MLPH semapv:UnspecifiedMatching +OMIM:606526 MLPH skos:exactMatch hgnc.symbol:29643 semapv:UnspecifiedMatching +OMIM:606526 MLPH skos:exactMatch hgnc.symbol:MLPH semapv:UnspecifiedMatching OMIM:606526 MLPH skos:exactMatch ncbigene:79083 semapv:UnspecifiedMatching -OMIM:606530 CYP27A1 skos:exactMatch hgnc:CYP27A1 semapv:UnspecifiedMatching +OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:2605 semapv:UnspecifiedMatching +OMIM:606530 CYP27A1 skos:exactMatch hgnc.symbol:CYP27A1 semapv:UnspecifiedMatching OMIM:606530 CYP27A1 skos:exactMatch ncbigene:1593 semapv:UnspecifiedMatching -OMIM:606531 SCGB3A2 skos:exactMatch hgnc:SCGB3A2 semapv:UnspecifiedMatching +OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:18391 semapv:UnspecifiedMatching +OMIM:606531 SCGB3A2 skos:exactMatch hgnc.symbol:SCGB3A2 semapv:UnspecifiedMatching OMIM:606531 SCGB3A2 skos:exactMatch ncbigene:117156 semapv:UnspecifiedMatching -OMIM:606532 HUNK skos:exactMatch hgnc:HUNK semapv:UnspecifiedMatching +OMIM:606532 HUNK skos:exactMatch hgnc.symbol:13326 semapv:UnspecifiedMatching +OMIM:606532 HUNK skos:exactMatch hgnc.symbol:HUNK semapv:UnspecifiedMatching OMIM:606532 HUNK skos:exactMatch ncbigene:30811 semapv:UnspecifiedMatching -OMIM:606533 CLIC3 skos:exactMatch hgnc:CLIC3 semapv:UnspecifiedMatching +OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:2064 semapv:UnspecifiedMatching +OMIM:606533 CLIC3 skos:exactMatch hgnc.symbol:CLIC3 semapv:UnspecifiedMatching OMIM:606533 CLIC3 skos:exactMatch ncbigene:9022 semapv:UnspecifiedMatching -OMIM:606534 CYP3A43 skos:exactMatch hgnc:CYP3A43 semapv:UnspecifiedMatching +OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:17450 semapv:UnspecifiedMatching +OMIM:606534 CYP3A43 skos:exactMatch hgnc.symbol:CYP3A43 semapv:UnspecifiedMatching OMIM:606534 CYP3A43 skos:exactMatch ncbigene:64816 semapv:UnspecifiedMatching -OMIM:606535 MYCBP skos:exactMatch hgnc:MYCBP semapv:UnspecifiedMatching +OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:7554 semapv:UnspecifiedMatching +OMIM:606535 MYCBP skos:exactMatch hgnc.symbol:MYCBP semapv:UnspecifiedMatching OMIM:606535 MYCBP skos:exactMatch ncbigene:26292 semapv:UnspecifiedMatching -OMIM:606536 CLIC4 skos:exactMatch hgnc:CLIC4 semapv:UnspecifiedMatching +OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:13518 semapv:UnspecifiedMatching +OMIM:606536 CLIC4 skos:exactMatch hgnc.symbol:CLIC4 semapv:UnspecifiedMatching OMIM:606536 CLIC4 skos:exactMatch ncbigene:25932 semapv:UnspecifiedMatching -OMIM:606537 MYO1B skos:exactMatch hgnc:MYO1B semapv:UnspecifiedMatching +OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:7596 semapv:UnspecifiedMatching +OMIM:606537 MYO1B skos:exactMatch hgnc.symbol:MYO1B semapv:UnspecifiedMatching OMIM:606537 MYO1B skos:exactMatch ncbigene:4430 semapv:UnspecifiedMatching -OMIM:606538 MYO1C skos:exactMatch hgnc:MYO1C semapv:UnspecifiedMatching +OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:7597 semapv:UnspecifiedMatching +OMIM:606538 MYO1C skos:exactMatch hgnc.symbol:MYO1C semapv:UnspecifiedMatching OMIM:606538 MYO1C skos:exactMatch ncbigene:4641 semapv:UnspecifiedMatching -OMIM:606539 MYO1D skos:exactMatch hgnc:MYO1D semapv:UnspecifiedMatching +OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:7598 semapv:UnspecifiedMatching +OMIM:606539 MYO1D skos:exactMatch hgnc.symbol:MYO1D semapv:UnspecifiedMatching OMIM:606539 MYO1D skos:exactMatch ncbigene:4642 semapv:UnspecifiedMatching -OMIM:606540 MYO5B skos:exactMatch hgnc:MYO5B semapv:UnspecifiedMatching +OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:7603 semapv:UnspecifiedMatching +OMIM:606540 MYO5B skos:exactMatch hgnc.symbol:MYO5B semapv:UnspecifiedMatching OMIM:606540 MYO5B skos:exactMatch ncbigene:4645 semapv:UnspecifiedMatching -OMIM:606541 MYO7B skos:exactMatch hgnc:MYO7B semapv:UnspecifiedMatching +OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:7607 semapv:UnspecifiedMatching +OMIM:606541 MYO7B skos:exactMatch hgnc.symbol:MYO7B semapv:UnspecifiedMatching OMIM:606541 MYO7B skos:exactMatch ncbigene:4648 semapv:UnspecifiedMatching -OMIM:606542 HDAC7A skos:exactMatch hgnc:HDAC7 semapv:UnspecifiedMatching +OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:14067 semapv:UnspecifiedMatching +OMIM:606542 HDAC7A skos:exactMatch hgnc.symbol:HDAC7 semapv:UnspecifiedMatching OMIM:606542 HDAC7A skos:exactMatch ncbigene:51564 semapv:UnspecifiedMatching -OMIM:606543 HDAC9 skos:exactMatch hgnc:HDAC9 semapv:UnspecifiedMatching +OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:14065 semapv:UnspecifiedMatching +OMIM:606543 HDAC9 skos:exactMatch hgnc.symbol:HDAC9 semapv:UnspecifiedMatching OMIM:606543 HDAC9 skos:exactMatch ncbigene:9734 semapv:UnspecifiedMatching -OMIM:606544 GFM2 skos:exactMatch hgnc:GFM2 semapv:UnspecifiedMatching +OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:29682 semapv:UnspecifiedMatching +OMIM:606544 GFM2 skos:exactMatch hgnc.symbol:GFM2 semapv:UnspecifiedMatching OMIM:606544 GFM2 skos:exactMatch ncbigene:84340 semapv:UnspecifiedMatching -OMIM:606546 HYMAI skos:exactMatch hgnc:HYMAI semapv:UnspecifiedMatching +OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:5326 semapv:UnspecifiedMatching +OMIM:606546 HYMAI skos:exactMatch hgnc.symbol:HYMAI semapv:UnspecifiedMatching OMIM:606546 HYMAI skos:exactMatch ncbigene:57061 semapv:UnspecifiedMatching -OMIM:606547 MS4A4A skos:exactMatch hgnc:MS4A4A semapv:UnspecifiedMatching +OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:13371 semapv:UnspecifiedMatching +OMIM:606547 MS4A4A skos:exactMatch hgnc.symbol:MS4A4A semapv:UnspecifiedMatching OMIM:606547 MS4A4A skos:exactMatch ncbigene:51338 semapv:UnspecifiedMatching -OMIM:606548 MS4A6A skos:exactMatch hgnc:MS4A6A semapv:UnspecifiedMatching +OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:13375 semapv:UnspecifiedMatching +OMIM:606548 MS4A6A skos:exactMatch hgnc.symbol:MS4A6A semapv:UnspecifiedMatching OMIM:606548 MS4A6A skos:exactMatch ncbigene:64231 semapv:UnspecifiedMatching -OMIM:606549 MS4A8B skos:exactMatch hgnc:MS4A8 semapv:UnspecifiedMatching +OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:13380 semapv:UnspecifiedMatching +OMIM:606549 MS4A8B skos:exactMatch hgnc.symbol:MS4A8 semapv:UnspecifiedMatching OMIM:606549 MS4A8B skos:exactMatch ncbigene:83661 semapv:UnspecifiedMatching -OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc:MS4A12 semapv:UnspecifiedMatching +OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:13370 semapv:UnspecifiedMatching +OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch hgnc.symbol:MS4A12 semapv:UnspecifiedMatching OMIM:606550 membrane-spanning 4-domains, subfamily a, member 12 skos:exactMatch ncbigene:54860 semapv:UnspecifiedMatching -OMIM:606551 LZTS1 skos:exactMatch hgnc:LZTS1 semapv:UnspecifiedMatching +OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:13861 semapv:UnspecifiedMatching +OMIM:606551 LZTS1 skos:exactMatch hgnc.symbol:LZTS1 semapv:UnspecifiedMatching OMIM:606551 LZTS1 skos:exactMatch ncbigene:11178 semapv:UnspecifiedMatching -OMIM:606553 SLC9A3R2 skos:exactMatch hgnc:NHERF2 semapv:UnspecifiedMatching +OMIM:606553 SLC9A3R2 skos:exactMatch hgnc.symbol:NHERF2 semapv:UnspecifiedMatching OMIM:606553 SLC9A3R2 skos:exactMatch ncbigene:9351 semapv:UnspecifiedMatching -OMIM:606555 TRIM9 skos:exactMatch hgnc:TRIM9 semapv:UnspecifiedMatching +OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:16288 semapv:UnspecifiedMatching +OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:TRIM9 semapv:UnspecifiedMatching OMIM:606555 TRIM9 skos:exactMatch ncbigene:114088 semapv:UnspecifiedMatching -OMIM:606556 TRIM14 skos:exactMatch hgnc:TRIM14 semapv:UnspecifiedMatching +OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:16283 semapv:UnspecifiedMatching +OMIM:606556 TRIM14 skos:exactMatch hgnc.symbol:TRIM14 semapv:UnspecifiedMatching OMIM:606556 TRIM14 skos:exactMatch ncbigene:9830 semapv:UnspecifiedMatching OMIM:606557 BCL11A skos:exactMatch UMLS:C1421886 semapv:UnspecifiedMatching OMIM:606557 BCL11A skos:exactMatch UMLS:C4310833 semapv:UnspecifiedMatching -OMIM:606557 BCL11A skos:exactMatch hgnc:BCL11A semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:13221 semapv:UnspecifiedMatching +OMIM:606557 BCL11A skos:exactMatch hgnc.symbol:BCL11A semapv:UnspecifiedMatching OMIM:606557 BCL11A skos:exactMatch ncbigene:53335 semapv:UnspecifiedMatching -OMIM:606558 BCL11B skos:exactMatch hgnc:BCL11B semapv:UnspecifiedMatching +OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:13222 semapv:UnspecifiedMatching +OMIM:606558 BCL11B skos:exactMatch hgnc.symbol:BCL11B semapv:UnspecifiedMatching OMIM:606558 BCL11B skos:exactMatch ncbigene:64919 semapv:UnspecifiedMatching -OMIM:606559 TRIM22 skos:exactMatch hgnc:TRIM22 semapv:UnspecifiedMatching +OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:16379 semapv:UnspecifiedMatching +OMIM:606559 TRIM22 skos:exactMatch hgnc.symbol:TRIM22 semapv:UnspecifiedMatching OMIM:606559 TRIM22 skos:exactMatch ncbigene:10346 semapv:UnspecifiedMatching -OMIM:606560 SPAG11B skos:exactMatch hgnc:SPAG11B semapv:UnspecifiedMatching +OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:14534 semapv:UnspecifiedMatching +OMIM:606560 SPAG11B skos:exactMatch hgnc.symbol:SPAG11B semapv:UnspecifiedMatching OMIM:606560 SPAG11B skos:exactMatch ncbigene:10407 semapv:UnspecifiedMatching -OMIM:606561 SLC36A1 skos:exactMatch hgnc:SLC36A1 semapv:UnspecifiedMatching +OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:18761 semapv:UnspecifiedMatching +OMIM:606561 SLC36A1 skos:exactMatch hgnc.symbol:SLC36A1 semapv:UnspecifiedMatching OMIM:606561 SLC36A1 skos:exactMatch ncbigene:206358 semapv:UnspecifiedMatching -OMIM:606562 TM6SF1 skos:exactMatch hgnc:TM6SF1 semapv:UnspecifiedMatching +OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:11860 semapv:UnspecifiedMatching +OMIM:606562 TM6SF1 skos:exactMatch hgnc.symbol:TM6SF1 semapv:UnspecifiedMatching OMIM:606562 TM6SF1 skos:exactMatch ncbigene:53346 semapv:UnspecifiedMatching -OMIM:606563 TM6SF2 skos:exactMatch hgnc:TM6SF2 semapv:UnspecifiedMatching +OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:11861 semapv:UnspecifiedMatching +OMIM:606563 TM6SF2 skos:exactMatch hgnc.symbol:TM6SF2 semapv:UnspecifiedMatching OMIM:606563 TM6SF2 skos:exactMatch ncbigene:53345 semapv:UnspecifiedMatching -OMIM:606564 PMEPA1 skos:exactMatch hgnc:PMEPA1 semapv:UnspecifiedMatching +OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:14107 semapv:UnspecifiedMatching +OMIM:606564 PMEPA1 skos:exactMatch hgnc.symbol:PMEPA1 semapv:UnspecifiedMatching OMIM:606564 PMEPA1 skos:exactMatch ncbigene:56937 semapv:UnspecifiedMatching -OMIM:606565 TMPRSS4 skos:exactMatch hgnc:TMPRSS4 semapv:UnspecifiedMatching +OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:11878 semapv:UnspecifiedMatching +OMIM:606565 TMPRSS4 skos:exactMatch hgnc.symbol:TMPRSS4 semapv:UnspecifiedMatching OMIM:606565 TMPRSS4 skos:exactMatch ncbigene:56649 semapv:UnspecifiedMatching -OMIM:606566 MYLK2 skos:exactMatch hgnc:MYLK2 semapv:UnspecifiedMatching +OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:16243 semapv:UnspecifiedMatching +OMIM:606566 MYLK2 skos:exactMatch hgnc.symbol:MYLK2 semapv:UnspecifiedMatching OMIM:606566 MYLK2 skos:exactMatch ncbigene:85366 semapv:UnspecifiedMatching -OMIM:606567 TM4SF4 skos:exactMatch hgnc:TM4SF4 semapv:UnspecifiedMatching +OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:11856 semapv:UnspecifiedMatching +OMIM:606567 TM4SF4 skos:exactMatch hgnc.symbol:TM4SF4 semapv:UnspecifiedMatching OMIM:606567 TM4SF4 skos:exactMatch ncbigene:7104 semapv:UnspecifiedMatching -OMIM:606568 LZTFL1 skos:exactMatch hgnc:LZTFL1 semapv:UnspecifiedMatching +OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:6741 semapv:UnspecifiedMatching +OMIM:606568 LZTFL1 skos:exactMatch hgnc.symbol:LZTFL1 semapv:UnspecifiedMatching OMIM:606568 LZTFL1 skos:exactMatch ncbigene:54585 semapv:UnspecifiedMatching -OMIM:606569 SACM1L skos:exactMatch hgnc:SACM1L semapv:UnspecifiedMatching +OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:17059 semapv:UnspecifiedMatching +OMIM:606569 SACM1L skos:exactMatch hgnc.symbol:SACM1L semapv:UnspecifiedMatching OMIM:606569 SACM1L skos:exactMatch ncbigene:22908 semapv:UnspecifiedMatching -OMIM:606570 SFRP4 skos:exactMatch hgnc:SFRP4 semapv:UnspecifiedMatching +OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:10778 semapv:UnspecifiedMatching +OMIM:606570 SFRP4 skos:exactMatch hgnc.symbol:SFRP4 semapv:UnspecifiedMatching OMIM:606570 SFRP4 skos:exactMatch ncbigene:6424 semapv:UnspecifiedMatching -OMIM:606571 LDLRAD4 skos:exactMatch hgnc:LDLRAD4 semapv:UnspecifiedMatching +OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:1224 semapv:UnspecifiedMatching +OMIM:606571 LDLRAD4 skos:exactMatch hgnc.symbol:LDLRAD4 semapv:UnspecifiedMatching OMIM:606571 LDLRAD4 skos:exactMatch ncbigene:753 semapv:UnspecifiedMatching -OMIM:606572 NOX5 skos:exactMatch hgnc:NOX5 semapv:UnspecifiedMatching +OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:14874 semapv:UnspecifiedMatching +OMIM:606572 NOX5 skos:exactMatch hgnc.symbol:NOX5 semapv:UnspecifiedMatching OMIM:606572 NOX5 skos:exactMatch ncbigene:79400 semapv:UnspecifiedMatching -OMIM:606573 FRK skos:exactMatch hgnc:FRK semapv:UnspecifiedMatching +OMIM:606573 FRK skos:exactMatch hgnc.symbol:3955 semapv:UnspecifiedMatching +OMIM:606573 FRK skos:exactMatch hgnc.symbol:FRK semapv:UnspecifiedMatching OMIM:606573 FRK skos:exactMatch ncbigene:2444 semapv:UnspecifiedMatching +OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch Orphanet:79435 semapv:UnspecifiedMatching OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch UMLS:C1847836 semapv:UnspecifiedMatching -OMIM:606574 albinism, oculocutaneous, iia 4 skos:exactMatch orphanet.ordo:79435 semapv:UnspecifiedMatching -OMIM:606575 MPP4 skos:exactMatch hgnc:MPP4 semapv:UnspecifiedMatching +OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:13680 semapv:UnspecifiedMatching +OMIM:606575 MPP4 skos:exactMatch hgnc.symbol:MPP4 semapv:UnspecifiedMatching OMIM:606575 MPP4 skos:exactMatch ncbigene:58538 semapv:UnspecifiedMatching -OMIM:606576 TAF3 skos:exactMatch hgnc:TAF3 semapv:UnspecifiedMatching +OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:17303 semapv:UnspecifiedMatching +OMIM:606576 TAF3 skos:exactMatch hgnc.symbol:TAF3 semapv:UnspecifiedMatching OMIM:606576 TAF3 skos:exactMatch ncbigene:83860 semapv:UnspecifiedMatching -OMIM:606577 SLA2 skos:exactMatch hgnc:SLA2 semapv:UnspecifiedMatching +OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:17329 semapv:UnspecifiedMatching +OMIM:606577 SLA2 skos:exactMatch hgnc.symbol:SLA2 semapv:UnspecifiedMatching OMIM:606577 SLA2 skos:exactMatch ncbigene:84174 semapv:UnspecifiedMatching -OMIM:606578 AQP10 skos:exactMatch hgnc:AQP10 semapv:UnspecifiedMatching +OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:16029 semapv:UnspecifiedMatching +OMIM:606578 AQP10 skos:exactMatch hgnc.symbol:AQP10 semapv:UnspecifiedMatching OMIM:606578 AQP10 skos:exactMatch ncbigene:89872 semapv:UnspecifiedMatching OMIM:606580 OPA3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching OMIM:606580 OPA3 skos:exactMatch UMLS:C1417955 semapv:UnspecifiedMatching OMIM:606580 OPA3 skos:exactMatch UMLS:C1833809 semapv:UnspecifiedMatching -OMIM:606580 OPA3 skos:exactMatch hgnc:OPA3 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:8142 semapv:UnspecifiedMatching +OMIM:606580 OPA3 skos:exactMatch hgnc.symbol:OPA3 semapv:UnspecifiedMatching OMIM:606580 OPA3 skos:exactMatch ncbigene:80207 semapv:UnspecifiedMatching -OMIM:606582 DLL1 skos:exactMatch hgnc:DLL1 semapv:UnspecifiedMatching +OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:2908 semapv:UnspecifiedMatching +OMIM:606582 DLL1 skos:exactMatch hgnc.symbol:DLL1 semapv:UnspecifiedMatching OMIM:606582 DLL1 skos:exactMatch ncbigene:28514 semapv:UnspecifiedMatching -OMIM:606583 PRDX5 skos:exactMatch hgnc:PRDX5 semapv:UnspecifiedMatching +OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:9355 semapv:UnspecifiedMatching +OMIM:606583 PRDX5 skos:exactMatch hgnc.symbol:PRDX5 semapv:UnspecifiedMatching OMIM:606583 PRDX5 skos:exactMatch ncbigene:25824 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch UMLS:C1422626 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394578 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394579 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch UMLS:C5394580 semapv:UnspecifiedMatching -OMIM:606584 PTPN23 skos:exactMatch hgnc:PTPN23 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:14406 semapv:UnspecifiedMatching +OMIM:606584 PTPN23 skos:exactMatch hgnc.symbol:PTPN23 semapv:UnspecifiedMatching OMIM:606584 PTPN23 skos:exactMatch ncbigene:25930 semapv:UnspecifiedMatching -OMIM:606585 ENAM skos:exactMatch hgnc:ENAM semapv:UnspecifiedMatching +OMIM:606585 ENAM skos:exactMatch hgnc.symbol:3344 semapv:UnspecifiedMatching +OMIM:606585 ENAM skos:exactMatch hgnc.symbol:ENAM semapv:UnspecifiedMatching OMIM:606585 ENAM skos:exactMatch ncbigene:10117 semapv:UnspecifiedMatching -OMIM:606586 RAI14 skos:exactMatch hgnc:RAI14 semapv:UnspecifiedMatching +OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:14873 semapv:UnspecifiedMatching +OMIM:606586 RAI14 skos:exactMatch hgnc.symbol:RAI14 semapv:UnspecifiedMatching OMIM:606586 RAI14 skos:exactMatch ncbigene:26064 semapv:UnspecifiedMatching -OMIM:606587 PTPN18 skos:exactMatch hgnc:PTPN18 semapv:UnspecifiedMatching +OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:9649 semapv:UnspecifiedMatching +OMIM:606587 PTPN18 skos:exactMatch hgnc.symbol:PTPN18 semapv:UnspecifiedMatching OMIM:606587 PTPN18 skos:exactMatch ncbigene:26469 semapv:UnspecifiedMatching -OMIM:606588 DNMT3L skos:exactMatch hgnc:DNMT3L semapv:UnspecifiedMatching +OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:2980 semapv:UnspecifiedMatching +OMIM:606588 DNMT3L skos:exactMatch hgnc.symbol:DNMT3L semapv:UnspecifiedMatching OMIM:606588 DNMT3L skos:exactMatch ncbigene:29947 semapv:UnspecifiedMatching -OMIM:606589 SNX13 skos:exactMatch hgnc:SNX13 semapv:UnspecifiedMatching +OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:21335 semapv:UnspecifiedMatching +OMIM:606589 SNX13 skos:exactMatch hgnc.symbol:SNX13 semapv:UnspecifiedMatching OMIM:606589 SNX13 skos:exactMatch ncbigene:23161 semapv:UnspecifiedMatching OMIM:606590 NPLOC4 skos:exactMatch UMLS:C1826464 semapv:UnspecifiedMatching -OMIM:606590 NPLOC4 skos:exactMatch hgnc:NPLOC4 semapv:UnspecifiedMatching +OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:18261 semapv:UnspecifiedMatching +OMIM:606590 NPLOC4 skos:exactMatch hgnc.symbol:NPLOC4 semapv:UnspecifiedMatching OMIM:606590 NPLOC4 skos:exactMatch ncbigene:55666 semapv:UnspecifiedMatching -OMIM:606591 MUS81 skos:exactMatch hgnc:MUS81 semapv:UnspecifiedMatching +OMIM:606591 MUS81 skos:exactMatch hgnc.symbol:29814 semapv:UnspecifiedMatching +OMIM:606591 MUS81 skos:exactMatch hgnc.symbol:MUS81 semapv:UnspecifiedMatching OMIM:606591 MUS81 skos:exactMatch ncbigene:80198 semapv:UnspecifiedMatching -OMIM:606592 VNN3 skos:exactMatch hgnc:VNN3P semapv:UnspecifiedMatching +OMIM:606592 VNN3 skos:exactMatch hgnc.symbol:16431 semapv:UnspecifiedMatching +OMIM:606592 VNN3 skos:exactMatch hgnc.symbol:VNN3P semapv:UnspecifiedMatching OMIM:606592 VNN3 skos:exactMatch ncbigene:55350 semapv:UnspecifiedMatching -OMIM:606594 SETD7 skos:exactMatch hgnc:SETD7 semapv:UnspecifiedMatching +OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:30412 semapv:UnspecifiedMatching +OMIM:606594 SETD7 skos:exactMatch hgnc.symbol:SETD7 semapv:UnspecifiedMatching OMIM:606594 SETD7 skos:exactMatch ncbigene:80854 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch UMLS:C1425226 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch UMLS:C4016970 semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch UMLS:C4016971 semapv:UnspecifiedMatching -OMIM:606596 FKRP skos:exactMatch hgnc:FKRP semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch hgnc.symbol:17997 semapv:UnspecifiedMatching +OMIM:606596 FKRP skos:exactMatch hgnc.symbol:FKRP semapv:UnspecifiedMatching OMIM:606596 FKRP skos:exactMatch ncbigene:79147 semapv:UnspecifiedMatching -OMIM:606597 PAX3 skos:exactMatch hgnc:PAX3 semapv:UnspecifiedMatching +OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:8617 semapv:UnspecifiedMatching +OMIM:606597 PAX3 skos:exactMatch hgnc.symbol:PAX3 semapv:UnspecifiedMatching OMIM:606597 PAX3 skos:exactMatch ncbigene:5077 semapv:UnspecifiedMatching -OMIM:606598 GDAP1 skos:exactMatch hgnc:GDAP1 semapv:UnspecifiedMatching +OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:15968 semapv:UnspecifiedMatching +OMIM:606598 GDAP1 skos:exactMatch hgnc.symbol:GDAP1 semapv:UnspecifiedMatching OMIM:606598 GDAP1 skos:exactMatch ncbigene:54332 semapv:UnspecifiedMatching -OMIM:606599 TXNIP skos:exactMatch hgnc:TXNIP semapv:UnspecifiedMatching +OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:16952 semapv:UnspecifiedMatching +OMIM:606599 TXNIP skos:exactMatch hgnc.symbol:TXNIP semapv:UnspecifiedMatching OMIM:606599 TXNIP skos:exactMatch ncbigene:10628 semapv:UnspecifiedMatching -OMIM:606600 RASGRF1 skos:exactMatch hgnc:RASGRF1 semapv:UnspecifiedMatching +OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:9875 semapv:UnspecifiedMatching +OMIM:606600 RASGRF1 skos:exactMatch hgnc.symbol:RASGRF1 semapv:UnspecifiedMatching OMIM:606600 RASGRF1 skos:exactMatch ncbigene:5923 semapv:UnspecifiedMatching -OMIM:606601 ERVE1 skos:exactMatch hgnc:ERVE-1 semapv:UnspecifiedMatching +OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:14602 semapv:UnspecifiedMatching +OMIM:606601 ERVE1 skos:exactMatch hgnc.symbol:ERVE-1 semapv:UnspecifiedMatching OMIM:606601 ERVE1 skos:exactMatch ncbigene:85314 semapv:UnspecifiedMatching -OMIM:606602 BAALC skos:exactMatch hgnc:BAALC semapv:UnspecifiedMatching +OMIM:606602 BAALC skos:exactMatch hgnc.symbol:14333 semapv:UnspecifiedMatching +OMIM:606602 BAALC skos:exactMatch hgnc.symbol:BAALC semapv:UnspecifiedMatching OMIM:606602 BAALC skos:exactMatch ncbigene:79870 semapv:UnspecifiedMatching -OMIM:606603 EDARADD skos:exactMatch hgnc:EDARADD semapv:UnspecifiedMatching +OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:14341 semapv:UnspecifiedMatching +OMIM:606603 EDARADD skos:exactMatch hgnc.symbol:EDARADD semapv:UnspecifiedMatching OMIM:606603 EDARADD skos:exactMatch ncbigene:128178 semapv:UnspecifiedMatching -OMIM:606604 FBXO32 skos:exactMatch hgnc:FBXO32 semapv:UnspecifiedMatching +OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:16731 semapv:UnspecifiedMatching +OMIM:606604 FBXO32 skos:exactMatch hgnc.symbol:FBXO32 semapv:UnspecifiedMatching OMIM:606604 FBXO32 skos:exactMatch ncbigene:114907 semapv:UnspecifiedMatching -OMIM:606605 ATRIP skos:exactMatch hgnc:ATRIP semapv:UnspecifiedMatching +OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:33499 semapv:UnspecifiedMatching +OMIM:606605 ATRIP skos:exactMatch hgnc.symbol:ATRIP semapv:UnspecifiedMatching OMIM:606605 ATRIP skos:exactMatch ncbigene:84126 semapv:UnspecifiedMatching -OMIM:606607 PSMA7 skos:exactMatch hgnc:PSMA7 semapv:UnspecifiedMatching +OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:9536 semapv:UnspecifiedMatching +OMIM:606607 PSMA7 skos:exactMatch hgnc.symbol:PSMA7 semapv:UnspecifiedMatching OMIM:606607 PSMA7 skos:exactMatch ncbigene:5688 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch UMLS:C1424135 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch UMLS:C3805432 semapv:UnspecifiedMatching -OMIM:606608 YAP1 skos:exactMatch hgnc:YAP1 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:16262 semapv:UnspecifiedMatching +OMIM:606608 YAP1 skos:exactMatch hgnc.symbol:YAP1 semapv:UnspecifiedMatching OMIM:606608 YAP1 skos:exactMatch ncbigene:10413 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C0024145 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C0796126 semapv:UnspecifiedMatching @@ -21935,469 +30336,668 @@ OMIM:606609 TREX1 skos:exactMatch UMLS:C1336670 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C1860518 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C3150315 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch UMLS:C3862275 semapv:UnspecifiedMatching -OMIM:606609 TREX1 skos:exactMatch hgnc:TREX1 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:12269 semapv:UnspecifiedMatching +OMIM:606609 TREX1 skos:exactMatch hgnc.symbol:TREX1 semapv:UnspecifiedMatching OMIM:606609 TREX1 skos:exactMatch ncbigene:11277 semapv:UnspecifiedMatching -OMIM:606610 NSFL1C skos:exactMatch hgnc:NSFL1C semapv:UnspecifiedMatching +OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:15912 semapv:UnspecifiedMatching +OMIM:606610 NSFL1C skos:exactMatch hgnc.symbol:NSFL1C semapv:UnspecifiedMatching OMIM:606610 NSFL1C skos:exactMatch ncbigene:55968 semapv:UnspecifiedMatching -OMIM:606611 DEFB103A skos:exactMatch hgnc:DEFB103B semapv:UnspecifiedMatching +OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:31702 semapv:UnspecifiedMatching +OMIM:606611 DEFB103A skos:exactMatch hgnc.symbol:DEFB103B semapv:UnspecifiedMatching OMIM:606611 DEFB103A skos:exactMatch ncbigene:55894 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching +OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch Orphanet:52428 semapv:UnspecifiedMatching OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch orphanet.ordo:370959 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch orphanet.ordo:370968 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch orphanet.ordo:370980 semapv:UnspecifiedMatching -OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 skos:exactMatch orphanet.ordo:52428 semapv:UnspecifiedMatching -OMIM:606614 RASGRF2 skos:exactMatch hgnc:RASGRF2 semapv:UnspecifiedMatching +OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:9876 semapv:UnspecifiedMatching +OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:RASGRF2 semapv:UnspecifiedMatching OMIM:606614 RASGRF2 skos:exactMatch ncbigene:5924 semapv:UnspecifiedMatching -OMIM:606615 HIF1AN skos:exactMatch hgnc:HIF1AN semapv:UnspecifiedMatching +OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:17113 semapv:UnspecifiedMatching +OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:HIF1AN semapv:UnspecifiedMatching OMIM:606615 HIF1AN skos:exactMatch ncbigene:55662 semapv:UnspecifiedMatching -OMIM:606618 DUSP14 skos:exactMatch hgnc:DUSP14 semapv:UnspecifiedMatching +OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:17007 semapv:UnspecifiedMatching +OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:DUSP14 semapv:UnspecifiedMatching OMIM:606618 DUSP14 skos:exactMatch ncbigene:11072 semapv:UnspecifiedMatching -OMIM:606619 GBA3 skos:exactMatch hgnc:GBA3 semapv:UnspecifiedMatching +OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:19069 semapv:UnspecifiedMatching +OMIM:606619 GBA3 skos:exactMatch hgnc.symbol:GBA3 semapv:UnspecifiedMatching OMIM:606619 GBA3 skos:exactMatch ncbigene:57733 semapv:UnspecifiedMatching -OMIM:606620 SLAMF8 skos:exactMatch hgnc:SLAMF8 semapv:UnspecifiedMatching +OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:21391 semapv:UnspecifiedMatching +OMIM:606620 SLAMF8 skos:exactMatch hgnc.symbol:SLAMF8 semapv:UnspecifiedMatching OMIM:606620 SLAMF8 skos:exactMatch ncbigene:56833 semapv:UnspecifiedMatching -OMIM:606621 IFT57 skos:exactMatch hgnc:IFT57 semapv:UnspecifiedMatching +OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:17367 semapv:UnspecifiedMatching +OMIM:606621 IFT57 skos:exactMatch hgnc.symbol:IFT57 semapv:UnspecifiedMatching OMIM:606621 IFT57 skos:exactMatch ncbigene:55081 semapv:UnspecifiedMatching -OMIM:606622 SMARCAL1 skos:exactMatch hgnc:SMARCAL1 semapv:UnspecifiedMatching +OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:11102 semapv:UnspecifiedMatching +OMIM:606622 SMARCAL1 skos:exactMatch hgnc.symbol:SMARCAL1 semapv:UnspecifiedMatching OMIM:606622 SMARCAL1 skos:exactMatch ncbigene:50485 semapv:UnspecifiedMatching -OMIM:606623 HSD17B6 skos:exactMatch hgnc:HSD17B6 semapv:UnspecifiedMatching +OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:23316 semapv:UnspecifiedMatching +OMIM:606623 HSD17B6 skos:exactMatch hgnc.symbol:HSD17B6 semapv:UnspecifiedMatching OMIM:606623 HSD17B6 skos:exactMatch ncbigene:8630 semapv:UnspecifiedMatching -OMIM:606624 NEUROG2 skos:exactMatch hgnc:NEUROG2 semapv:UnspecifiedMatching +OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:13805 semapv:UnspecifiedMatching +OMIM:606624 NEUROG2 skos:exactMatch hgnc.symbol:NEUROG2 semapv:UnspecifiedMatching OMIM:606624 NEUROG2 skos:exactMatch ncbigene:63973 semapv:UnspecifiedMatching -OMIM:606625 SLAMF7 skos:exactMatch hgnc:SLAMF7 semapv:UnspecifiedMatching +OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:21394 semapv:UnspecifiedMatching +OMIM:606625 SLAMF7 skos:exactMatch hgnc.symbol:SLAMF7 semapv:UnspecifiedMatching OMIM:606625 SLAMF7 skos:exactMatch ncbigene:57823 semapv:UnspecifiedMatching -OMIM:606626 DAAM1 skos:exactMatch hgnc:DAAM1 semapv:UnspecifiedMatching +OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:18142 semapv:UnspecifiedMatching +OMIM:606626 DAAM1 skos:exactMatch hgnc.symbol:DAAM1 semapv:UnspecifiedMatching OMIM:606626 DAAM1 skos:exactMatch ncbigene:23002 semapv:UnspecifiedMatching -OMIM:606627 DAAM2 skos:exactMatch hgnc:DAAM2 semapv:UnspecifiedMatching +OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:18143 semapv:UnspecifiedMatching +OMIM:606627 DAAM2 skos:exactMatch hgnc.symbol:DAAM2 semapv:UnspecifiedMatching OMIM:606627 DAAM2 skos:exactMatch ncbigene:23500 semapv:UnspecifiedMatching -OMIM:606628 GNMT skos:exactMatch hgnc:GNMT semapv:UnspecifiedMatching +OMIM:606628 GNMT skos:exactMatch hgnc.symbol:4415 semapv:UnspecifiedMatching +OMIM:606628 GNMT skos:exactMatch hgnc.symbol:GNMT semapv:UnspecifiedMatching OMIM:606628 GNMT skos:exactMatch ncbigene:27232 semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch UMLS:C1424873 semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch UMLS:C1863634 semapv:UnspecifiedMatching -OMIM:606629 RIMS1 skos:exactMatch hgnc:RIMS1 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:17282 semapv:UnspecifiedMatching +OMIM:606629 RIMS1 skos:exactMatch hgnc.symbol:RIMS1 semapv:UnspecifiedMatching OMIM:606629 RIMS1 skos:exactMatch ncbigene:22999 semapv:UnspecifiedMatching OMIM:606630 RIMS2 skos:exactMatch UMLS:C1424874 semapv:UnspecifiedMatching OMIM:606630 RIMS2 skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching -OMIM:606630 RIMS2 skos:exactMatch hgnc:RIMS2 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:17283 semapv:UnspecifiedMatching +OMIM:606630 RIMS2 skos:exactMatch hgnc.symbol:RIMS2 semapv:UnspecifiedMatching OMIM:606630 RIMS2 skos:exactMatch ncbigene:9699 semapv:UnspecifiedMatching -OMIM:606633 SP7 skos:exactMatch hgnc:SP7 semapv:UnspecifiedMatching +OMIM:606633 SP7 skos:exactMatch hgnc.symbol:17321 semapv:UnspecifiedMatching +OMIM:606633 SP7 skos:exactMatch hgnc.symbol:SP7 semapv:UnspecifiedMatching OMIM:606633 SP7 skos:exactMatch ncbigene:121340 semapv:UnspecifiedMatching -OMIM:606634 DCD skos:exactMatch hgnc:DCD semapv:UnspecifiedMatching +OMIM:606634 DCD skos:exactMatch hgnc.symbol:14669 semapv:UnspecifiedMatching +OMIM:606634 DCD skos:exactMatch hgnc.symbol:DCD semapv:UnspecifiedMatching OMIM:606634 DCD skos:exactMatch ncbigene:117159 semapv:UnspecifiedMatching -OMIM:606635 TMPRSS15 skos:exactMatch hgnc:TMPRSS15 semapv:UnspecifiedMatching +OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:9490 semapv:UnspecifiedMatching +OMIM:606635 TMPRSS15 skos:exactMatch hgnc.symbol:TMPRSS15 semapv:UnspecifiedMatching OMIM:606635 TMPRSS15 skos:exactMatch ncbigene:5651 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C1826435 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C1847835 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C4479278 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching -OMIM:606636 NLRP1 skos:exactMatch hgnc:NLRP1 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:14374 semapv:UnspecifiedMatching +OMIM:606636 NLRP1 skos:exactMatch hgnc.symbol:NLRP1 semapv:UnspecifiedMatching OMIM:606636 NLRP1 skos:exactMatch ncbigene:22861 semapv:UnspecifiedMatching -OMIM:606637 PYY2 skos:exactMatch hgnc:PYY2 semapv:UnspecifiedMatching +OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:9749 semapv:UnspecifiedMatching +OMIM:606637 PYY2 skos:exactMatch hgnc.symbol:PYY2 semapv:UnspecifiedMatching OMIM:606637 PYY2 skos:exactMatch ncbigene:23615 semapv:UnspecifiedMatching -OMIM:606638 PPY2 skos:exactMatch hgnc:PPY2P semapv:UnspecifiedMatching +OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:9328 semapv:UnspecifiedMatching +OMIM:606638 PPY2 skos:exactMatch hgnc.symbol:PPY2P semapv:UnspecifiedMatching OMIM:606638 PPY2 skos:exactMatch ncbigene:23614 semapv:UnspecifiedMatching -OMIM:606639 GFM1 skos:exactMatch hgnc:GFM1 semapv:UnspecifiedMatching +OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:13780 semapv:UnspecifiedMatching +OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:GFM1 semapv:UnspecifiedMatching OMIM:606639 GFM1 skos:exactMatch ncbigene:85476 semapv:UnspecifiedMatching -OMIM:606644 IGSF8 skos:exactMatch hgnc:IGSF8 semapv:UnspecifiedMatching +OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:17813 semapv:UnspecifiedMatching +OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching -OMIM:606645 CENTD1 skos:exactMatch hgnc:ARAP2 semapv:UnspecifiedMatching +OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:16924 semapv:UnspecifiedMatching +OMIM:606645 CENTD1 skos:exactMatch hgnc.symbol:ARAP2 semapv:UnspecifiedMatching OMIM:606645 CENTD1 skos:exactMatch ncbigene:116984 semapv:UnspecifiedMatching -OMIM:606646 CENTD2 skos:exactMatch hgnc:ARAP1 semapv:UnspecifiedMatching +OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:16925 semapv:UnspecifiedMatching +OMIM:606646 CENTD2 skos:exactMatch hgnc.symbol:ARAP1 semapv:UnspecifiedMatching OMIM:606646 CENTD2 skos:exactMatch ncbigene:116985 semapv:UnspecifiedMatching -OMIM:606647 CENTD3 skos:exactMatch hgnc:ARAP3 semapv:UnspecifiedMatching +OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:24097 semapv:UnspecifiedMatching +OMIM:606647 CENTD3 skos:exactMatch hgnc.symbol:ARAP3 semapv:UnspecifiedMatching OMIM:606647 CENTD3 skos:exactMatch ncbigene:64411 semapv:UnspecifiedMatching -OMIM:606648 IL22RA2 skos:exactMatch hgnc:IL22RA2 semapv:UnspecifiedMatching +OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:14901 semapv:UnspecifiedMatching +OMIM:606648 IL22RA2 skos:exactMatch hgnc.symbol:IL22RA2 semapv:UnspecifiedMatching OMIM:606648 IL22RA2 skos:exactMatch ncbigene:116379 semapv:UnspecifiedMatching -OMIM:606649 HIVEP3 skos:exactMatch hgnc:HIVEP3 semapv:UnspecifiedMatching +OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:13561 semapv:UnspecifiedMatching +OMIM:606649 HIVEP3 skos:exactMatch hgnc.symbol:HIVEP3 semapv:UnspecifiedMatching OMIM:606649 HIVEP3 skos:exactMatch ncbigene:59269 semapv:UnspecifiedMatching OMIM:606650 GRIN3A skos:exactMatch UMLS:C1424528 semapv:UnspecifiedMatching -OMIM:606650 GRIN3A skos:exactMatch hgnc:GRIN3A semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:16767 semapv:UnspecifiedMatching +OMIM:606650 GRIN3A skos:exactMatch hgnc.symbol:GRIN3A semapv:UnspecifiedMatching OMIM:606650 GRIN3A skos:exactMatch ncbigene:116443 semapv:UnspecifiedMatching -OMIM:606651 GRIN3B skos:exactMatch hgnc:GRIN3B semapv:UnspecifiedMatching +OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:16768 semapv:UnspecifiedMatching +OMIM:606651 GRIN3B skos:exactMatch hgnc.symbol:GRIN3B semapv:UnspecifiedMatching OMIM:606651 GRIN3B skos:exactMatch ncbigene:116444 semapv:UnspecifiedMatching -OMIM:606652 HAVCR2 skos:exactMatch hgnc:HAVCR2 semapv:UnspecifiedMatching +OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:18437 semapv:UnspecifiedMatching +OMIM:606652 HAVCR2 skos:exactMatch hgnc.symbol:HAVCR2 semapv:UnspecifiedMatching OMIM:606652 HAVCR2 skos:exactMatch ncbigene:84868 semapv:UnspecifiedMatching -OMIM:606653 LGR6 skos:exactMatch hgnc:LGR6 semapv:UnspecifiedMatching +OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:19719 semapv:UnspecifiedMatching +OMIM:606653 LGR6 skos:exactMatch hgnc.symbol:LGR6 semapv:UnspecifiedMatching OMIM:606653 LGR6 skos:exactMatch ncbigene:59352 semapv:UnspecifiedMatching -OMIM:606654 RXFP1 skos:exactMatch hgnc:RXFP1 semapv:UnspecifiedMatching +OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:19718 semapv:UnspecifiedMatching +OMIM:606654 RXFP1 skos:exactMatch hgnc.symbol:RXFP1 semapv:UnspecifiedMatching OMIM:606654 RXFP1 skos:exactMatch ncbigene:59350 semapv:UnspecifiedMatching OMIM:606655 RXFP2 skos:exactMatch UMLS:C1424898 semapv:UnspecifiedMatching OMIM:606655 RXFP2 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:606655 RXFP2 skos:exactMatch hgnc:RXFP2 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:17318 semapv:UnspecifiedMatching +OMIM:606655 RXFP2 skos:exactMatch hgnc.symbol:RXFP2 semapv:UnspecifiedMatching OMIM:606655 RXFP2 skos:exactMatch ncbigene:122042 semapv:UnspecifiedMatching OMIM:606659 TIMM8B skos:exactMatch UMLS:C1420741 semapv:UnspecifiedMatching -OMIM:606659 TIMM8B skos:exactMatch hgnc:TIMM8B semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:11818 semapv:UnspecifiedMatching +OMIM:606659 TIMM8B skos:exactMatch hgnc.symbol:TIMM8B semapv:UnspecifiedMatching OMIM:606659 TIMM8B skos:exactMatch ncbigene:26521 semapv:UnspecifiedMatching -OMIM:606663 LOXL2 skos:exactMatch hgnc:LOXL2 semapv:UnspecifiedMatching +OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:6666 semapv:UnspecifiedMatching +OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:LOXL2 semapv:UnspecifiedMatching OMIM:606663 LOXL2 skos:exactMatch ncbigene:4017 semapv:UnspecifiedMatching -OMIM:606665 OPN4 skos:exactMatch hgnc:OPN4 semapv:UnspecifiedMatching +OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:14449 semapv:UnspecifiedMatching +OMIM:606665 OPN4 skos:exactMatch hgnc.symbol:OPN4 semapv:UnspecifiedMatching OMIM:606665 OPN4 skos:exactMatch ncbigene:94233 semapv:UnspecifiedMatching -OMIM:606666 LGR4 skos:exactMatch hgnc:LGR4 semapv:UnspecifiedMatching +OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:13299 semapv:UnspecifiedMatching +OMIM:606666 LGR4 skos:exactMatch hgnc.symbol:LGR4 semapv:UnspecifiedMatching OMIM:606666 LGR4 skos:exactMatch ncbigene:55366 semapv:UnspecifiedMatching OMIM:606667 LGR5 skos:exactMatch UMLS:C1537570 semapv:UnspecifiedMatching -OMIM:606667 LGR5 skos:exactMatch hgnc:LGR5 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:4504 semapv:UnspecifiedMatching +OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:LGR5 semapv:UnspecifiedMatching OMIM:606667 LGR5 skos:exactMatch ncbigene:8549 semapv:UnspecifiedMatching -OMIM:606669 FXYD5 skos:exactMatch hgnc:FXYD5 semapv:UnspecifiedMatching +OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:4029 semapv:UnspecifiedMatching +OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:FXYD5 semapv:UnspecifiedMatching OMIM:606669 FXYD5 skos:exactMatch ncbigene:53827 semapv:UnspecifiedMatching -OMIM:606670 PPP1R11 skos:exactMatch hgnc:PPP1R11 semapv:UnspecifiedMatching +OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:9285 semapv:UnspecifiedMatching +OMIM:606670 PPP1R11 skos:exactMatch hgnc.symbol:PPP1R11 semapv:UnspecifiedMatching OMIM:606670 PPP1R11 skos:exactMatch ncbigene:6992 semapv:UnspecifiedMatching -OMIM:606671 NCKIPSD skos:exactMatch hgnc:NCKIPSD semapv:UnspecifiedMatching +OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:15486 semapv:UnspecifiedMatching +OMIM:606671 NCKIPSD skos:exactMatch hgnc.symbol:NCKIPSD semapv:UnspecifiedMatching OMIM:606671 NCKIPSD skos:exactMatch ncbigene:51517 semapv:UnspecifiedMatching -OMIM:606672 GP1BA skos:exactMatch hgnc:GP1BA semapv:UnspecifiedMatching +OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:4439 semapv:UnspecifiedMatching +OMIM:606672 GP1BA skos:exactMatch hgnc.symbol:GP1BA semapv:UnspecifiedMatching OMIM:606672 GP1BA skos:exactMatch ncbigene:2811 semapv:UnspecifiedMatching -OMIM:606673 UPB1 skos:exactMatch hgnc:UPB1 semapv:UnspecifiedMatching +OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:16297 semapv:UnspecifiedMatching +OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:UPB1 semapv:UnspecifiedMatching OMIM:606673 UPB1 skos:exactMatch ncbigene:51733 semapv:UnspecifiedMatching -OMIM:606676 TRPV2 skos:exactMatch hgnc:TRPV2 semapv:UnspecifiedMatching +OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:18082 semapv:UnspecifiedMatching +OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:TRPV2 semapv:UnspecifiedMatching OMIM:606676 TRPV2 skos:exactMatch ncbigene:51393 semapv:UnspecifiedMatching -OMIM:606677 CLEC4C skos:exactMatch hgnc:CLEC4C semapv:UnspecifiedMatching +OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:13258 semapv:UnspecifiedMatching +OMIM:606677 CLEC4C skos:exactMatch hgnc.symbol:CLEC4C semapv:UnspecifiedMatching OMIM:606677 CLEC4C skos:exactMatch ncbigene:170482 semapv:UnspecifiedMatching -OMIM:606678 TRPM8 skos:exactMatch hgnc:TRPM8 semapv:UnspecifiedMatching +OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:17961 semapv:UnspecifiedMatching +OMIM:606678 TRPM8 skos:exactMatch hgnc.symbol:TRPM8 semapv:UnspecifiedMatching OMIM:606678 TRPM8 skos:exactMatch ncbigene:79054 semapv:UnspecifiedMatching -OMIM:606679 TRPV5 skos:exactMatch hgnc:TRPV5 semapv:UnspecifiedMatching +OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:3145 semapv:UnspecifiedMatching +OMIM:606679 TRPV5 skos:exactMatch hgnc.symbol:TRPV5 semapv:UnspecifiedMatching OMIM:606679 TRPV5 skos:exactMatch ncbigene:56302 semapv:UnspecifiedMatching -OMIM:606680 TRPV6 skos:exactMatch hgnc:TRPV6 semapv:UnspecifiedMatching +OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:14006 semapv:UnspecifiedMatching +OMIM:606680 TRPV6 skos:exactMatch hgnc.symbol:TRPV6 semapv:UnspecifiedMatching OMIM:606680 TRPV6 skos:exactMatch ncbigene:55503 semapv:UnspecifiedMatching -OMIM:606681 NSD1 skos:exactMatch hgnc:NSD1 semapv:UnspecifiedMatching +OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:14234 semapv:UnspecifiedMatching +OMIM:606681 NSD1 skos:exactMatch hgnc.symbol:NSD1 semapv:UnspecifiedMatching OMIM:606681 NSD1 skos:exactMatch ncbigene:64324 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch UMLS:C1423767 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching -OMIM:606682 HPS4 skos:exactMatch hgnc:HPS4 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:15844 semapv:UnspecifiedMatching +OMIM:606682 HPS4 skos:exactMatch hgnc.symbol:HPS4 semapv:UnspecifiedMatching OMIM:606682 HPS4 skos:exactMatch ncbigene:89781 semapv:UnspecifiedMatching -OMIM:606683 FXYD6 skos:exactMatch hgnc:FXYD6 semapv:UnspecifiedMatching +OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:4030 semapv:UnspecifiedMatching +OMIM:606683 FXYD6 skos:exactMatch hgnc.symbol:FXYD6 semapv:UnspecifiedMatching OMIM:606683 FXYD6 skos:exactMatch ncbigene:53826 semapv:UnspecifiedMatching -OMIM:606684 FXYD7 skos:exactMatch hgnc:FXYD7 semapv:UnspecifiedMatching +OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:4034 semapv:UnspecifiedMatching +OMIM:606684 FXYD7 skos:exactMatch hgnc.symbol:FXYD7 semapv:UnspecifiedMatching OMIM:606684 FXYD7 skos:exactMatch ncbigene:53822 semapv:UnspecifiedMatching +OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch UMLS:C1847667 semapv:UnspecifiedMatching -OMIM:606685 cardiomyopathy, dilated, 1l skos:exactMatch orphanet.ordo:154 semapv:UnspecifiedMatching -OMIM:606686 EIF2B1 skos:exactMatch hgnc:EIF2B1 semapv:UnspecifiedMatching +OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:3257 semapv:UnspecifiedMatching +OMIM:606686 EIF2B1 skos:exactMatch hgnc.symbol:EIF2B1 semapv:UnspecifiedMatching OMIM:606686 EIF2B1 skos:exactMatch ncbigene:1967 semapv:UnspecifiedMatching -OMIM:606687 EIF2B4 skos:exactMatch hgnc:EIF2B4 semapv:UnspecifiedMatching +OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:3260 semapv:UnspecifiedMatching +OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:EIF2B4 semapv:UnspecifiedMatching OMIM:606687 EIF2B4 skos:exactMatch ncbigene:8890 semapv:UnspecifiedMatching -OMIM:606691 CEACAM19 skos:exactMatch hgnc:CEACAM19 semapv:UnspecifiedMatching +OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:31951 semapv:UnspecifiedMatching +OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:CEACAM19 semapv:UnspecifiedMatching OMIM:606691 CEACAM19 skos:exactMatch ncbigene:56971 semapv:UnspecifiedMatching -OMIM:606692 TRAF7 skos:exactMatch hgnc:TRAF7 semapv:UnspecifiedMatching +OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:20456 semapv:UnspecifiedMatching +OMIM:606692 TRAF7 skos:exactMatch hgnc.symbol:TRAF7 semapv:UnspecifiedMatching OMIM:606692 TRAF7 skos:exactMatch ncbigene:84231 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:306674 semapv:UnspecifiedMatching +OMIM:606693 kufor-rakeb syndrome skos:exactMatch Orphanet:314632 semapv:UnspecifiedMatching OMIM:606693 kufor-rakeb syndrome skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching -OMIM:606693 kufor-rakeb syndrome skos:exactMatch orphanet.ordo:306674 semapv:UnspecifiedMatching -OMIM:606693 kufor-rakeb syndrome skos:exactMatch orphanet.ordo:314632 semapv:UnspecifiedMatching -OMIM:606694 NUP155 skos:exactMatch hgnc:NUP155 semapv:UnspecifiedMatching +OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:8063 semapv:UnspecifiedMatching +OMIM:606694 NUP155 skos:exactMatch hgnc.symbol:NUP155 semapv:UnspecifiedMatching OMIM:606694 NUP155 skos:exactMatch ncbigene:9631 semapv:UnspecifiedMatching -OMIM:606695 OPN3 skos:exactMatch hgnc:OPN3 semapv:UnspecifiedMatching +OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:14007 semapv:UnspecifiedMatching +OMIM:606695 OPN3 skos:exactMatch hgnc.symbol:OPN3 semapv:UnspecifiedMatching OMIM:606695 OPN3 skos:exactMatch ncbigene:23596 semapv:UnspecifiedMatching OMIM:606696 KATNA1 skos:exactMatch UMLS:C1416541 semapv:UnspecifiedMatching -OMIM:606696 KATNA1 skos:exactMatch hgnc:KATNA1 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:6216 semapv:UnspecifiedMatching +OMIM:606696 KATNA1 skos:exactMatch hgnc.symbol:KATNA1 semapv:UnspecifiedMatching OMIM:606696 KATNA1 skos:exactMatch ncbigene:11104 semapv:UnspecifiedMatching -OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc:ZNF443 semapv:UnspecifiedMatching +OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:20878 semapv:UnspecifiedMatching +OMIM:606697 zinc finger protein zk1 skos:exactMatch hgnc.symbol:ZNF443 semapv:UnspecifiedMatching OMIM:606697 zinc finger protein zk1 skos:exactMatch ncbigene:10224 semapv:UnspecifiedMatching -OMIM:606698 sry-box 30 skos:exactMatch hgnc:SOX30 semapv:UnspecifiedMatching +OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:30635 semapv:UnspecifiedMatching +OMIM:606698 sry-box 30 skos:exactMatch hgnc.symbol:SOX30 semapv:UnspecifiedMatching OMIM:606698 sry-box 30 skos:exactMatch ncbigene:11063 semapv:UnspecifiedMatching -OMIM:606699 HELZ skos:exactMatch hgnc:HELZ semapv:UnspecifiedMatching +OMIM:606699 HELZ skos:exactMatch hgnc.symbol:16878 semapv:UnspecifiedMatching +OMIM:606699 HELZ skos:exactMatch hgnc.symbol:HELZ semapv:UnspecifiedMatching OMIM:606699 HELZ skos:exactMatch ncbigene:9931 semapv:UnspecifiedMatching OMIM:606700 MIDN skos:exactMatch UMLS:C1424166 semapv:UnspecifiedMatching -OMIM:606700 MIDN skos:exactMatch hgnc:MIDN semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch hgnc.symbol:16298 semapv:UnspecifiedMatching +OMIM:606700 MIDN skos:exactMatch hgnc.symbol:MIDN semapv:UnspecifiedMatching OMIM:606700 MIDN skos:exactMatch ncbigene:90007 semapv:UnspecifiedMatching -OMIM:606701 DRGX skos:exactMatch hgnc:DRGX semapv:UnspecifiedMatching +OMIM:606701 DRGX skos:exactMatch hgnc.symbol:21536 semapv:UnspecifiedMatching +OMIM:606701 DRGX skos:exactMatch hgnc.symbol:DRGX semapv:UnspecifiedMatching OMIM:606701 DRGX skos:exactMatch ncbigene:644168 semapv:UnspecifiedMatching -OMIM:606702 PKHD1 skos:exactMatch hgnc:PKHD1 semapv:UnspecifiedMatching +OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:9016 semapv:UnspecifiedMatching +OMIM:606702 PKHD1 skos:exactMatch hgnc.symbol:PKHD1 semapv:UnspecifiedMatching OMIM:606702 PKHD1 skos:exactMatch ncbigene:5314 semapv:UnspecifiedMatching OMIM:606704 GPR75 skos:exactMatch UMLS:C1415257 semapv:UnspecifiedMatching -OMIM:606704 GPR75 skos:exactMatch hgnc:GPR75 semapv:UnspecifiedMatching +OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:4526 semapv:UnspecifiedMatching +OMIM:606704 GPR75 skos:exactMatch hgnc.symbol:GPR75 semapv:UnspecifiedMatching OMIM:606704 GPR75 skos:exactMatch ncbigene:10936 semapv:UnspecifiedMatching -OMIM:606706 TMC1 skos:exactMatch hgnc:TMC1 semapv:UnspecifiedMatching +OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:16513 semapv:UnspecifiedMatching +OMIM:606706 TMC1 skos:exactMatch hgnc.symbol:TMC1 semapv:UnspecifiedMatching OMIM:606706 TMC1 skos:exactMatch ncbigene:117531 semapv:UnspecifiedMatching -OMIM:606707 TMC2 skos:exactMatch hgnc:TMC2 semapv:UnspecifiedMatching +OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:16527 semapv:UnspecifiedMatching +OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:TMC2 semapv:UnspecifiedMatching OMIM:606707 TMC2 skos:exactMatch ncbigene:117532 semapv:UnspecifiedMatching -OMIM:606709 PRSS12 skos:exactMatch hgnc:PRSS12 semapv:UnspecifiedMatching +OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:9477 semapv:UnspecifiedMatching +OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:PRSS12 semapv:UnspecifiedMatching OMIM:606709 PRSS12 skos:exactMatch ncbigene:8492 semapv:UnspecifiedMatching -OMIM:606710 LHFPL6 skos:exactMatch hgnc:LHFPL6 semapv:UnspecifiedMatching +OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:6586 semapv:UnspecifiedMatching +OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:LHFPL6 semapv:UnspecifiedMatching OMIM:606710 LHFPL6 skos:exactMatch ncbigene:10186 semapv:UnspecifiedMatching -OMIM:606714 PNRC1 skos:exactMatch hgnc:PNRC1 semapv:UnspecifiedMatching +OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:17278 semapv:UnspecifiedMatching +OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:PNRC1 semapv:UnspecifiedMatching OMIM:606714 PNRC1 skos:exactMatch ncbigene:10957 semapv:UnspecifiedMatching OMIM:606715 ASIC4 skos:exactMatch UMLS:C1427464 semapv:UnspecifiedMatching -OMIM:606715 ASIC4 skos:exactMatch hgnc:ASIC4 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:21263 semapv:UnspecifiedMatching +OMIM:606715 ASIC4 skos:exactMatch hgnc.symbol:ASIC4 semapv:UnspecifiedMatching OMIM:606715 ASIC4 skos:exactMatch ncbigene:55515 semapv:UnspecifiedMatching -OMIM:606716 NAT8 skos:exactMatch hgnc:NAT8 semapv:UnspecifiedMatching +OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:18069 semapv:UnspecifiedMatching +OMIM:606716 NAT8 skos:exactMatch hgnc.symbol:NAT8 semapv:UnspecifiedMatching OMIM:606716 NAT8 skos:exactMatch ncbigene:9027 semapv:UnspecifiedMatching -OMIM:606717 XAF1 skos:exactMatch hgnc:XAF1 semapv:UnspecifiedMatching +OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:30932 semapv:UnspecifiedMatching +OMIM:606717 XAF1 skos:exactMatch hgnc.symbol:XAF1 semapv:UnspecifiedMatching OMIM:606717 XAF1 skos:exactMatch ncbigene:54739 semapv:UnspecifiedMatching -OMIM:606718 SLC26A2 skos:exactMatch hgnc:SLC26A2 semapv:UnspecifiedMatching +OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:10994 semapv:UnspecifiedMatching +OMIM:606718 SLC26A2 skos:exactMatch hgnc.symbol:SLC26A2 semapv:UnspecifiedMatching OMIM:606718 SLC26A2 skos:exactMatch ncbigene:1836 semapv:UnspecifiedMatching -OMIM:606720 ENDOU skos:exactMatch hgnc:ENDOU semapv:UnspecifiedMatching +OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:14369 semapv:UnspecifiedMatching +OMIM:606720 ENDOU skos:exactMatch hgnc.symbol:ENDOU semapv:UnspecifiedMatching OMIM:606720 ENDOU skos:exactMatch ncbigene:8909 semapv:UnspecifiedMatching -OMIM:606722 NCALD skos:exactMatch hgnc:NCALD semapv:UnspecifiedMatching +OMIM:606722 NCALD skos:exactMatch hgnc.symbol:7655 semapv:UnspecifiedMatching +OMIM:606722 NCALD skos:exactMatch hgnc.symbol:NCALD semapv:UnspecifiedMatching OMIM:606722 NCALD skos:exactMatch ncbigene:83988 semapv:UnspecifiedMatching -OMIM:606723 MAPKAPK5 skos:exactMatch hgnc:MAPKAPK5 semapv:UnspecifiedMatching +OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:6889 semapv:UnspecifiedMatching +OMIM:606723 MAPKAPK5 skos:exactMatch hgnc.symbol:MAPKAPK5 semapv:UnspecifiedMatching OMIM:606723 MAPKAPK5 skos:exactMatch ncbigene:8550 semapv:UnspecifiedMatching -OMIM:606724 MKNK1 skos:exactMatch hgnc:MKNK1 semapv:UnspecifiedMatching +OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:7110 semapv:UnspecifiedMatching +OMIM:606724 MKNK1 skos:exactMatch hgnc.symbol:MKNK1 semapv:UnspecifiedMatching OMIM:606724 MKNK1 skos:exactMatch ncbigene:8569 semapv:UnspecifiedMatching OMIM:606725 CLN6 skos:exactMatch UMLS:C0022797 semapv:UnspecifiedMatching OMIM:606725 CLN6 skos:exactMatch UMLS:C1413498 semapv:UnspecifiedMatching OMIM:606725 CLN6 skos:exactMatch UMLS:C1866282 semapv:UnspecifiedMatching -OMIM:606725 CLN6 skos:exactMatch hgnc:CLN6 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:2077 semapv:UnspecifiedMatching +OMIM:606725 CLN6 skos:exactMatch hgnc.symbol:CLN6 semapv:UnspecifiedMatching OMIM:606725 CLN6 skos:exactMatch ncbigene:54982 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch UMLS:C1422213 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225245 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching -OMIM:606726 SLC12A5 skos:exactMatch hgnc:SLC12A5 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:13818 semapv:UnspecifiedMatching +OMIM:606726 SLC12A5 skos:exactMatch hgnc.symbol:SLC12A5 semapv:UnspecifiedMatching OMIM:606726 SLC12A5 skos:exactMatch ncbigene:57468 semapv:UnspecifiedMatching -OMIM:606727 NKX2-3 skos:exactMatch hgnc:NKX2-3 semapv:UnspecifiedMatching +OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:7836 semapv:UnspecifiedMatching +OMIM:606727 NKX2-3 skos:exactMatch hgnc.symbol:NKX2-3 semapv:UnspecifiedMatching OMIM:606727 NKX2-3 skos:exactMatch ncbigene:159296 semapv:UnspecifiedMatching -OMIM:606728 CAVIN2 skos:exactMatch hgnc:CAVIN2 semapv:UnspecifiedMatching +OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:10690 semapv:UnspecifiedMatching +OMIM:606728 CAVIN2 skos:exactMatch hgnc.symbol:CAVIN2 semapv:UnspecifiedMatching OMIM:606728 CAVIN2 skos:exactMatch ncbigene:8436 semapv:UnspecifiedMatching -OMIM:606729 OSBP2 skos:exactMatch hgnc:OSBP2 semapv:UnspecifiedMatching +OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:8504 semapv:UnspecifiedMatching +OMIM:606729 OSBP2 skos:exactMatch hgnc.symbol:OSBP2 semapv:UnspecifiedMatching OMIM:606729 OSBP2 skos:exactMatch ncbigene:23762 semapv:UnspecifiedMatching -OMIM:606730 OSBPL1A skos:exactMatch hgnc:OSBPL1A semapv:UnspecifiedMatching +OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:16398 semapv:UnspecifiedMatching +OMIM:606730 OSBPL1A skos:exactMatch hgnc.symbol:OSBPL1A semapv:UnspecifiedMatching OMIM:606730 OSBPL1A skos:exactMatch ncbigene:114876 semapv:UnspecifiedMatching -OMIM:606731 OSBPL2 skos:exactMatch hgnc:OSBPL2 semapv:UnspecifiedMatching +OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:15761 semapv:UnspecifiedMatching +OMIM:606731 OSBPL2 skos:exactMatch hgnc.symbol:OSBPL2 semapv:UnspecifiedMatching OMIM:606731 OSBPL2 skos:exactMatch ncbigene:9885 semapv:UnspecifiedMatching -OMIM:606732 OSBPL3 skos:exactMatch hgnc:OSBPL3 semapv:UnspecifiedMatching +OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:16370 semapv:UnspecifiedMatching +OMIM:606732 OSBPL3 skos:exactMatch hgnc.symbol:OSBPL3 semapv:UnspecifiedMatching OMIM:606732 OSBPL3 skos:exactMatch ncbigene:26031 semapv:UnspecifiedMatching -OMIM:606733 OSBPL5 skos:exactMatch hgnc:OSBPL5 semapv:UnspecifiedMatching +OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:16392 semapv:UnspecifiedMatching +OMIM:606733 OSBPL5 skos:exactMatch hgnc.symbol:OSBPL5 semapv:UnspecifiedMatching OMIM:606733 OSBPL5 skos:exactMatch ncbigene:114879 semapv:UnspecifiedMatching -OMIM:606734 OSBPL6 skos:exactMatch hgnc:OSBPL6 semapv:UnspecifiedMatching +OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:16388 semapv:UnspecifiedMatching +OMIM:606734 OSBPL6 skos:exactMatch hgnc.symbol:OSBPL6 semapv:UnspecifiedMatching OMIM:606734 OSBPL6 skos:exactMatch ncbigene:114880 semapv:UnspecifiedMatching -OMIM:606735 OSBPL7 skos:exactMatch hgnc:OSBPL7 semapv:UnspecifiedMatching +OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:16387 semapv:UnspecifiedMatching +OMIM:606735 OSBPL7 skos:exactMatch hgnc.symbol:OSBPL7 semapv:UnspecifiedMatching OMIM:606735 OSBPL7 skos:exactMatch ncbigene:114881 semapv:UnspecifiedMatching -OMIM:606736 OSBPL8 skos:exactMatch hgnc:OSBPL8 semapv:UnspecifiedMatching +OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:16396 semapv:UnspecifiedMatching +OMIM:606736 OSBPL8 skos:exactMatch hgnc.symbol:OSBPL8 semapv:UnspecifiedMatching OMIM:606736 OSBPL8 skos:exactMatch ncbigene:114882 semapv:UnspecifiedMatching -OMIM:606737 OSBPL9 skos:exactMatch hgnc:OSBPL9 semapv:UnspecifiedMatching +OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:16386 semapv:UnspecifiedMatching +OMIM:606737 OSBPL9 skos:exactMatch hgnc.symbol:OSBPL9 semapv:UnspecifiedMatching OMIM:606737 OSBPL9 skos:exactMatch ncbigene:114883 semapv:UnspecifiedMatching -OMIM:606738 OSBPL10 skos:exactMatch hgnc:OSBPL10 semapv:UnspecifiedMatching +OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:16395 semapv:UnspecifiedMatching +OMIM:606738 OSBPL10 skos:exactMatch hgnc.symbol:OSBPL10 semapv:UnspecifiedMatching OMIM:606738 OSBPL10 skos:exactMatch ncbigene:114884 semapv:UnspecifiedMatching -OMIM:606739 OSBPL11 skos:exactMatch hgnc:OSBPL11 semapv:UnspecifiedMatching +OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:16397 semapv:UnspecifiedMatching +OMIM:606739 OSBPL11 skos:exactMatch hgnc.symbol:OSBPL11 semapv:UnspecifiedMatching OMIM:606739 OSBPL11 skos:exactMatch ncbigene:114885 semapv:UnspecifiedMatching -OMIM:606740 ZNF180 skos:exactMatch hgnc:ZNF180 semapv:UnspecifiedMatching +OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:12970 semapv:UnspecifiedMatching +OMIM:606740 ZNF180 skos:exactMatch hgnc.symbol:ZNF180 semapv:UnspecifiedMatching OMIM:606740 ZNF180 skos:exactMatch ncbigene:7733 semapv:UnspecifiedMatching -OMIM:606741 ZNF181 skos:exactMatch hgnc:ZNF181 semapv:UnspecifiedMatching +OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:12971 semapv:UnspecifiedMatching +OMIM:606741 ZNF181 skos:exactMatch hgnc.symbol:ZNF181 semapv:UnspecifiedMatching OMIM:606741 ZNF181 skos:exactMatch ncbigene:339318 semapv:UnspecifiedMatching -OMIM:606742 TLL1 skos:exactMatch hgnc:TLL1 semapv:UnspecifiedMatching +OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:11843 semapv:UnspecifiedMatching +OMIM:606742 TLL1 skos:exactMatch hgnc.symbol:TLL1 semapv:UnspecifiedMatching OMIM:606742 TLL1 skos:exactMatch ncbigene:7092 semapv:UnspecifiedMatching -OMIM:606743 TLL2 skos:exactMatch hgnc:TLL2 semapv:UnspecifiedMatching +OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:11844 semapv:UnspecifiedMatching +OMIM:606743 TLL2 skos:exactMatch hgnc.symbol:TLL2 semapv:UnspecifiedMatching OMIM:606743 TLL2 skos:exactMatch ncbigene:7093 semapv:UnspecifiedMatching OMIM:606745 PARD3 skos:exactMatch UMLS:C1423939 semapv:UnspecifiedMatching -OMIM:606745 PARD3 skos:exactMatch hgnc:PARD3 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:16051 semapv:UnspecifiedMatching +OMIM:606745 PARD3 skos:exactMatch hgnc.symbol:PARD3 semapv:UnspecifiedMatching OMIM:606745 PARD3 skos:exactMatch ncbigene:56288 semapv:UnspecifiedMatching OMIM:606746 MYDGF skos:exactMatch UMLS:C1424658 semapv:UnspecifiedMatching -OMIM:606746 MYDGF skos:exactMatch hgnc:MYDGF semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:16948 semapv:UnspecifiedMatching +OMIM:606746 MYDGF skos:exactMatch hgnc.symbol:MYDGF semapv:UnspecifiedMatching OMIM:606746 MYDGF skos:exactMatch ncbigene:56005 semapv:UnspecifiedMatching -OMIM:606747 VEZF1 skos:exactMatch hgnc:VEZF1 semapv:UnspecifiedMatching +OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:12949 semapv:UnspecifiedMatching +OMIM:606747 VEZF1 skos:exactMatch hgnc.symbol:VEZF1 semapv:UnspecifiedMatching OMIM:606747 VEZF1 skos:exactMatch ncbigene:7716 semapv:UnspecifiedMatching -OMIM:606748 COTL1 skos:exactMatch hgnc:COTL1 semapv:UnspecifiedMatching +OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:18304 semapv:UnspecifiedMatching +OMIM:606748 COTL1 skos:exactMatch hgnc.symbol:COTL1 semapv:UnspecifiedMatching OMIM:606748 COTL1 skos:exactMatch ncbigene:23406 semapv:UnspecifiedMatching -OMIM:606749 TINAG skos:exactMatch hgnc:TINAG semapv:UnspecifiedMatching +OMIM:606749 TINAG skos:exactMatch hgnc.symbol:14599 semapv:UnspecifiedMatching +OMIM:606749 TINAG skos:exactMatch hgnc.symbol:TINAG semapv:UnspecifiedMatching OMIM:606749 TINAG skos:exactMatch ncbigene:27283 semapv:UnspecifiedMatching OMIM:606750 ZBP1 skos:exactMatch UMLS:C1424053 semapv:UnspecifiedMatching -OMIM:606750 ZBP1 skos:exactMatch hgnc:ZBP1 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:16176 semapv:UnspecifiedMatching +OMIM:606750 ZBP1 skos:exactMatch hgnc.symbol:ZBP1 semapv:UnspecifiedMatching OMIM:606750 ZBP1 skos:exactMatch ncbigene:81030 semapv:UnspecifiedMatching -OMIM:606751 TMPRSS5 skos:exactMatch hgnc:TMPRSS5 semapv:UnspecifiedMatching +OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:14908 semapv:UnspecifiedMatching +OMIM:606751 TMPRSS5 skos:exactMatch hgnc.symbol:TMPRSS5 semapv:UnspecifiedMatching OMIM:606751 TMPRSS5 skos:exactMatch ncbigene:80975 semapv:UnspecifiedMatching -OMIM:606753 TTC4 skos:exactMatch hgnc:TTC4 semapv:UnspecifiedMatching +OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:12394 semapv:UnspecifiedMatching +OMIM:606753 TTC4 skos:exactMatch hgnc.symbol:TTC4 semapv:UnspecifiedMatching OMIM:606753 TTC4 skos:exactMatch ncbigene:7268 semapv:UnspecifiedMatching -OMIM:606754 SAMHD1 skos:exactMatch hgnc:SAMHD1 semapv:UnspecifiedMatching +OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:15925 semapv:UnspecifiedMatching +OMIM:606754 SAMHD1 skos:exactMatch hgnc.symbol:SAMHD1 semapv:UnspecifiedMatching OMIM:606754 SAMHD1 skos:exactMatch ncbigene:25939 semapv:UnspecifiedMatching -OMIM:606755 PADI3 skos:exactMatch hgnc:PADI3 semapv:UnspecifiedMatching +OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:18337 semapv:UnspecifiedMatching +OMIM:606755 PADI3 skos:exactMatch hgnc.symbol:PADI3 semapv:UnspecifiedMatching OMIM:606755 PADI3 skos:exactMatch ncbigene:51702 semapv:UnspecifiedMatching -OMIM:606756 HSD17B7 skos:exactMatch hgnc:HSD17B7 semapv:UnspecifiedMatching +OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:5215 semapv:UnspecifiedMatching +OMIM:606756 HSD17B7 skos:exactMatch hgnc.symbol:HSD17B7 semapv:UnspecifiedMatching OMIM:606756 HSD17B7 skos:exactMatch ncbigene:51478 semapv:UnspecifiedMatching -OMIM:606757 SLC4A5 skos:exactMatch hgnc:SLC4A5 semapv:UnspecifiedMatching +OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:18168 semapv:UnspecifiedMatching +OMIM:606757 SLC4A5 skos:exactMatch hgnc.symbol:SLC4A5 semapv:UnspecifiedMatching OMIM:606757 SLC4A5 skos:exactMatch ncbigene:57835 semapv:UnspecifiedMatching -OMIM:606758 DUOX1 skos:exactMatch hgnc:DUOX1 semapv:UnspecifiedMatching +OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:3062 semapv:UnspecifiedMatching +OMIM:606758 DUOX1 skos:exactMatch hgnc.symbol:DUOX1 semapv:UnspecifiedMatching OMIM:606758 DUOX1 skos:exactMatch ncbigene:53905 semapv:UnspecifiedMatching -OMIM:606759 DUOX2 skos:exactMatch hgnc:DUOX2 semapv:UnspecifiedMatching +OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:13273 semapv:UnspecifiedMatching +OMIM:606759 DUOX2 skos:exactMatch hgnc.symbol:DUOX2 semapv:UnspecifiedMatching OMIM:606759 DUOX2 skos:exactMatch ncbigene:50506 semapv:UnspecifiedMatching OMIM:606761 MLYCD skos:exactMatch UMLS:C0342793 semapv:UnspecifiedMatching OMIM:606761 MLYCD skos:exactMatch UMLS:C1417196 semapv:UnspecifiedMatching -OMIM:606761 MLYCD skos:exactMatch hgnc:MLYCD semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:7150 semapv:UnspecifiedMatching +OMIM:606761 MLYCD skos:exactMatch hgnc.symbol:MLYCD semapv:UnspecifiedMatching OMIM:606761 MLYCD skos:exactMatch ncbigene:23417 semapv:UnspecifiedMatching -OMIM:606765 TPO skos:exactMatch hgnc:TPO semapv:UnspecifiedMatching +OMIM:606765 TPO skos:exactMatch hgnc.symbol:12015 semapv:UnspecifiedMatching +OMIM:606765 TPO skos:exactMatch hgnc.symbol:TPO semapv:UnspecifiedMatching OMIM:606765 TPO skos:exactMatch ncbigene:7173 semapv:UnspecifiedMatching -OMIM:606767 KCNG3 skos:exactMatch hgnc:KCNG3 semapv:UnspecifiedMatching +OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:18306 semapv:UnspecifiedMatching +OMIM:606767 KCNG3 skos:exactMatch hgnc.symbol:KCNG3 semapv:UnspecifiedMatching OMIM:606767 KCNG3 skos:exactMatch ncbigene:170850 semapv:UnspecifiedMatching -OMIM:606769 HELQ skos:exactMatch hgnc:HELQ semapv:UnspecifiedMatching +OMIM:606769 HELQ skos:exactMatch hgnc.symbol:18536 semapv:UnspecifiedMatching +OMIM:606769 HELQ skos:exactMatch hgnc.symbol:HELQ semapv:UnspecifiedMatching OMIM:606769 HELQ skos:exactMatch ncbigene:113510 semapv:UnspecifiedMatching -OMIM:606774 MIOX skos:exactMatch hgnc:MIOX semapv:UnspecifiedMatching +OMIM:606774 MIOX skos:exactMatch hgnc.symbol:14522 semapv:UnspecifiedMatching +OMIM:606774 MIOX skos:exactMatch hgnc.symbol:MIOX semapv:UnspecifiedMatching OMIM:606774 MIOX skos:exactMatch ncbigene:55586 semapv:UnspecifiedMatching -OMIM:606775 CSPG5 skos:exactMatch hgnc:CSPG5 semapv:UnspecifiedMatching +OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:2467 semapv:UnspecifiedMatching +OMIM:606775 CSPG5 skos:exactMatch hgnc.symbol:CSPG5 semapv:UnspecifiedMatching OMIM:606775 CSPG5 skos:exactMatch ncbigene:10675 semapv:UnspecifiedMatching -OMIM:606776 TGM7 skos:exactMatch hgnc:TGM7 semapv:UnspecifiedMatching +OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:30790 semapv:UnspecifiedMatching +OMIM:606776 TGM7 skos:exactMatch hgnc.symbol:TGM7 semapv:UnspecifiedMatching OMIM:606776 TGM7 skos:exactMatch ncbigene:116179 semapv:UnspecifiedMatching OMIM:606778 SSH1 skos:exactMatch UMLS:C1539855 semapv:UnspecifiedMatching -OMIM:606778 SSH1 skos:exactMatch hgnc:SSH1 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:30579 semapv:UnspecifiedMatching +OMIM:606778 SSH1 skos:exactMatch hgnc.symbol:SSH1 semapv:UnspecifiedMatching OMIM:606778 SSH1 skos:exactMatch ncbigene:54434 semapv:UnspecifiedMatching OMIM:606779 SSH2 skos:exactMatch UMLS:C1539856 semapv:UnspecifiedMatching -OMIM:606779 SSH2 skos:exactMatch hgnc:SSH2 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:30580 semapv:UnspecifiedMatching +OMIM:606779 SSH2 skos:exactMatch hgnc.symbol:SSH2 semapv:UnspecifiedMatching OMIM:606779 SSH2 skos:exactMatch ncbigene:85464 semapv:UnspecifiedMatching OMIM:606780 SSH3 skos:exactMatch UMLS:C1539857 semapv:UnspecifiedMatching -OMIM:606780 SSH3 skos:exactMatch hgnc:SSH3 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:30581 semapv:UnspecifiedMatching +OMIM:606780 SSH3 skos:exactMatch hgnc.symbol:SSH3 semapv:UnspecifiedMatching OMIM:606780 SSH3 skos:exactMatch ncbigene:54961 semapv:UnspecifiedMatching -OMIM:606781 TKT skos:exactMatch hgnc:TKT semapv:UnspecifiedMatching +OMIM:606781 TKT skos:exactMatch hgnc.symbol:11834 semapv:UnspecifiedMatching +OMIM:606781 TKT skos:exactMatch hgnc.symbol:TKT semapv:UnspecifiedMatching OMIM:606781 TKT skos:exactMatch ncbigene:7086 semapv:UnspecifiedMatching -OMIM:606782 CLEC1A skos:exactMatch hgnc:CLEC1A semapv:UnspecifiedMatching +OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:24355 semapv:UnspecifiedMatching +OMIM:606782 CLEC1A skos:exactMatch hgnc.symbol:CLEC1A semapv:UnspecifiedMatching OMIM:606782 CLEC1A skos:exactMatch ncbigene:51267 semapv:UnspecifiedMatching -OMIM:606783 CLEC1B skos:exactMatch hgnc:CLEC1B semapv:UnspecifiedMatching +OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:24356 semapv:UnspecifiedMatching +OMIM:606783 CLEC1B skos:exactMatch hgnc.symbol:CLEC1B semapv:UnspecifiedMatching OMIM:606783 CLEC1B skos:exactMatch ncbigene:51266 semapv:UnspecifiedMatching -OMIM:606784 GSK3A skos:exactMatch hgnc:GSK3A semapv:UnspecifiedMatching +OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:4616 semapv:UnspecifiedMatching +OMIM:606784 GSK3A skos:exactMatch hgnc.symbol:GSK3A semapv:UnspecifiedMatching OMIM:606784 GSK3A skos:exactMatch ncbigene:2931 semapv:UnspecifiedMatching -OMIM:606786 CD300C skos:exactMatch hgnc:CD300C semapv:UnspecifiedMatching +OMIM:606786 CD300C skos:exactMatch hgnc.symbol:19320 semapv:UnspecifiedMatching +OMIM:606786 CD300C skos:exactMatch hgnc.symbol:CD300C semapv:UnspecifiedMatching OMIM:606786 CD300C skos:exactMatch ncbigene:10871 semapv:UnspecifiedMatching -OMIM:606790 CD300A skos:exactMatch hgnc:CD300A semapv:UnspecifiedMatching +OMIM:606790 CD300A skos:exactMatch hgnc.symbol:19319 semapv:UnspecifiedMatching +OMIM:606790 CD300A skos:exactMatch hgnc.symbol:CD300A semapv:UnspecifiedMatching OMIM:606790 CD300A skos:exactMatch ncbigene:11314 semapv:UnspecifiedMatching OMIM:606791 TPTE2 skos:exactMatch UMLS:C1540044 semapv:UnspecifiedMatching -OMIM:606791 TPTE2 skos:exactMatch hgnc:TPTE2 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:17299 semapv:UnspecifiedMatching +OMIM:606791 TPTE2 skos:exactMatch hgnc.symbol:TPTE2 semapv:UnspecifiedMatching OMIM:606791 TPTE2 skos:exactMatch ncbigene:93492 semapv:UnspecifiedMatching -OMIM:606792 HRH4 skos:exactMatch hgnc:HRH4 semapv:UnspecifiedMatching +OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:17383 semapv:UnspecifiedMatching +OMIM:606792 HRH4 skos:exactMatch hgnc.symbol:HRH4 semapv:UnspecifiedMatching OMIM:606792 HRH4 skos:exactMatch ncbigene:59340 semapv:UnspecifiedMatching -OMIM:606793 NPEPPS skos:exactMatch hgnc:NPEPPS semapv:UnspecifiedMatching +OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:7900 semapv:UnspecifiedMatching +OMIM:606793 NPEPPS skos:exactMatch hgnc.symbol:NPEPPS semapv:UnspecifiedMatching OMIM:606793 NPEPPS skos:exactMatch ncbigene:9520 semapv:UnspecifiedMatching OMIM:606794 SLC25A10 skos:exactMatch UMLS:C1420151 semapv:UnspecifiedMatching OMIM:606794 SLC25A10 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching -OMIM:606794 SLC25A10 skos:exactMatch hgnc:SLC25A10 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:10980 semapv:UnspecifiedMatching +OMIM:606794 SLC25A10 skos:exactMatch hgnc.symbol:SLC25A10 semapv:UnspecifiedMatching OMIM:606794 SLC25A10 skos:exactMatch ncbigene:1468 semapv:UnspecifiedMatching -OMIM:606795 SLC25A17 skos:exactMatch hgnc:SLC25A17 semapv:UnspecifiedMatching +OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:10987 semapv:UnspecifiedMatching +OMIM:606795 SLC25A17 skos:exactMatch hgnc.symbol:SLC25A17 semapv:UnspecifiedMatching OMIM:606795 SLC25A17 skos:exactMatch ncbigene:10478 semapv:UnspecifiedMatching -OMIM:606796 ST13 skos:exactMatch hgnc:ST13 semapv:UnspecifiedMatching +OMIM:606796 ST13 skos:exactMatch hgnc.symbol:11343 semapv:UnspecifiedMatching +OMIM:606796 ST13 skos:exactMatch hgnc.symbol:ST13 semapv:UnspecifiedMatching OMIM:606796 ST13 skos:exactMatch ncbigene:6767 semapv:UnspecifiedMatching -OMIM:606797 ST14 skos:exactMatch hgnc:ST14 semapv:UnspecifiedMatching +OMIM:606797 ST14 skos:exactMatch hgnc.symbol:11344 semapv:UnspecifiedMatching +OMIM:606797 ST14 skos:exactMatch hgnc.symbol:ST14 semapv:UnspecifiedMatching OMIM:606797 ST14 skos:exactMatch ncbigene:6768 semapv:UnspecifiedMatching -OMIM:606800 GAA skos:exactMatch hgnc:GAA semapv:UnspecifiedMatching +OMIM:606800 GAA skos:exactMatch hgnc.symbol:4065 semapv:UnspecifiedMatching +OMIM:606800 GAA skos:exactMatch hgnc.symbol:GAA semapv:UnspecifiedMatching OMIM:606800 GAA skos:exactMatch ncbigene:2548 semapv:UnspecifiedMatching -OMIM:606801 MAEA skos:exactMatch hgnc:MAEA semapv:UnspecifiedMatching +OMIM:606801 MAEA skos:exactMatch hgnc.symbol:13731 semapv:UnspecifiedMatching +OMIM:606801 MAEA skos:exactMatch hgnc.symbol:MAEA semapv:UnspecifiedMatching OMIM:606801 MAEA skos:exactMatch ncbigene:10296 semapv:UnspecifiedMatching -OMIM:606802 SPIB skos:exactMatch hgnc:SPIB semapv:UnspecifiedMatching +OMIM:606802 SPIB skos:exactMatch hgnc.symbol:11242 semapv:UnspecifiedMatching +OMIM:606802 SPIB skos:exactMatch hgnc.symbol:SPIB semapv:UnspecifiedMatching OMIM:606802 SPIB skos:exactMatch ncbigene:6689 semapv:UnspecifiedMatching -OMIM:606803 ACOT11 skos:exactMatch hgnc:ACOT11 semapv:UnspecifiedMatching +OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:18156 semapv:UnspecifiedMatching +OMIM:606803 ACOT11 skos:exactMatch hgnc.symbol:ACOT11 semapv:UnspecifiedMatching OMIM:606803 ACOT11 skos:exactMatch ncbigene:26027 semapv:UnspecifiedMatching -OMIM:606804 GOLM1 skos:exactMatch hgnc:GOLM1 semapv:UnspecifiedMatching +OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:15451 semapv:UnspecifiedMatching +OMIM:606804 GOLM1 skos:exactMatch hgnc.symbol:GOLM1 semapv:UnspecifiedMatching OMIM:606804 GOLM1 skos:exactMatch ncbigene:51280 semapv:UnspecifiedMatching -OMIM:606805 GOLIM4 skos:exactMatch hgnc:GOLIM4 semapv:UnspecifiedMatching +OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:15448 semapv:UnspecifiedMatching +OMIM:606805 GOLIM4 skos:exactMatch hgnc.symbol:GOLIM4 semapv:UnspecifiedMatching OMIM:606805 GOLIM4 skos:exactMatch ncbigene:27333 semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch UMLS:C0268609 semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch UMLS:C1414832 semapv:UnspecifiedMatching -OMIM:606806 FTCD skos:exactMatch hgnc:FTCD semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch hgnc.symbol:3974 semapv:UnspecifiedMatching +OMIM:606806 FTCD skos:exactMatch hgnc.symbol:FTCD semapv:UnspecifiedMatching OMIM:606806 FTCD skos:exactMatch ncbigene:10841 semapv:UnspecifiedMatching -OMIM:606807 IL17RD skos:exactMatch hgnc:IL17RD semapv:UnspecifiedMatching +OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:17616 semapv:UnspecifiedMatching +OMIM:606807 IL17RD skos:exactMatch hgnc.symbol:IL17RD semapv:UnspecifiedMatching OMIM:606807 IL17RD skos:exactMatch ncbigene:54756 semapv:UnspecifiedMatching -OMIM:606808 MYO3A skos:exactMatch hgnc:MYO3A semapv:UnspecifiedMatching +OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:7601 semapv:UnspecifiedMatching +OMIM:606808 MYO3A skos:exactMatch hgnc.symbol:MYO3A semapv:UnspecifiedMatching OMIM:606808 MYO3A skos:exactMatch ncbigene:53904 semapv:UnspecifiedMatching -OMIM:606809 ACBD3 skos:exactMatch hgnc:ACBD3 semapv:UnspecifiedMatching +OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:15453 semapv:UnspecifiedMatching +OMIM:606809 ACBD3 skos:exactMatch hgnc.symbol:ACBD3 semapv:UnspecifiedMatching OMIM:606809 ACBD3 skos:exactMatch ncbigene:64746 semapv:UnspecifiedMatching -OMIM:606810 PRODH skos:exactMatch hgnc:PRODH semapv:UnspecifiedMatching +OMIM:606810 PRODH skos:exactMatch hgnc.symbol:9453 semapv:UnspecifiedMatching +OMIM:606810 PRODH skos:exactMatch hgnc.symbol:PRODH semapv:UnspecifiedMatching OMIM:606810 PRODH skos:exactMatch ncbigene:5625 semapv:UnspecifiedMatching -OMIM:606811 ALDH4A1 skos:exactMatch hgnc:ALDH4A1 semapv:UnspecifiedMatching +OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:406 semapv:UnspecifiedMatching +OMIM:606811 ALDH4A1 skos:exactMatch hgnc.symbol:ALDH4A1 semapv:UnspecifiedMatching OMIM:606811 ALDH4A1 skos:exactMatch ncbigene:8659 semapv:UnspecifiedMatching +OMIM:606812 fumarase deficiency skos:exactMatch Orphanet:24 semapv:UnspecifiedMatching OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C0342770 semapv:UnspecifiedMatching OMIM:606812 fumarase deficiency skos:exactMatch UMLS:C2936826 semapv:UnspecifiedMatching -OMIM:606812 fumarase deficiency skos:exactMatch orphanet.ordo:24 semapv:UnspecifiedMatching -OMIM:606813 SLC2A6 skos:exactMatch hgnc:SLC2A6 semapv:UnspecifiedMatching +OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:11011 semapv:UnspecifiedMatching +OMIM:606813 SLC2A6 skos:exactMatch hgnc.symbol:SLC2A6 semapv:UnspecifiedMatching OMIM:606813 SLC2A6 skos:exactMatch ncbigene:11182 semapv:UnspecifiedMatching -OMIM:606814 PRG3 skos:exactMatch hgnc:PRG3 semapv:UnspecifiedMatching +OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:9363 semapv:UnspecifiedMatching +OMIM:606814 PRG3 skos:exactMatch hgnc.symbol:PRG3 semapv:UnspecifiedMatching OMIM:606814 PRG3 skos:exactMatch ncbigene:10394 semapv:UnspecifiedMatching -OMIM:606815 CITED4 skos:exactMatch hgnc:CITED4 semapv:UnspecifiedMatching +OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:18696 semapv:UnspecifiedMatching +OMIM:606815 CITED4 skos:exactMatch hgnc.symbol:CITED4 semapv:UnspecifiedMatching OMIM:606815 CITED4 skos:exactMatch ncbigene:163732 semapv:UnspecifiedMatching -OMIM:606816 SIDT1 skos:exactMatch hgnc:SIDT1 semapv:UnspecifiedMatching +OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:25967 semapv:UnspecifiedMatching +OMIM:606816 SIDT1 skos:exactMatch hgnc.symbol:SIDT1 semapv:UnspecifiedMatching OMIM:606816 SIDT1 skos:exactMatch ncbigene:54847 semapv:UnspecifiedMatching -OMIM:606817 PTCRA skos:exactMatch hgnc:PTCRA semapv:UnspecifiedMatching +OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:21290 semapv:UnspecifiedMatching +OMIM:606817 PTCRA skos:exactMatch hgnc.symbol:PTCRA semapv:UnspecifiedMatching OMIM:606817 PTCRA skos:exactMatch ncbigene:171558 semapv:UnspecifiedMatching -OMIM:606818 DPP3 skos:exactMatch hgnc:DPP3 semapv:UnspecifiedMatching +OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:3008 semapv:UnspecifiedMatching +OMIM:606818 DPP3 skos:exactMatch hgnc.symbol:DPP3 semapv:UnspecifiedMatching OMIM:606818 DPP3 skos:exactMatch ncbigene:10072 semapv:UnspecifiedMatching -OMIM:606819 DPP8 skos:exactMatch hgnc:DPP8 semapv:UnspecifiedMatching +OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:16490 semapv:UnspecifiedMatching +OMIM:606819 DPP8 skos:exactMatch hgnc.symbol:DPP8 semapv:UnspecifiedMatching OMIM:606819 DPP8 skos:exactMatch ncbigene:54878 semapv:UnspecifiedMatching -OMIM:606820 GLRX2 skos:exactMatch hgnc:GLRX2 semapv:UnspecifiedMatching +OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:16065 semapv:UnspecifiedMatching +OMIM:606820 GLRX2 skos:exactMatch hgnc.symbol:GLRX2 semapv:UnspecifiedMatching OMIM:606820 GLRX2 skos:exactMatch ncbigene:51022 semapv:UnspecifiedMatching OMIM:606821 COG5 skos:exactMatch UMLS:C1423002 semapv:UnspecifiedMatching OMIM:606821 COG5 skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching -OMIM:606821 COG5 skos:exactMatch hgnc:COG5 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch hgnc.symbol:14857 semapv:UnspecifiedMatching +OMIM:606821 COG5 skos:exactMatch hgnc.symbol:COG5 semapv:UnspecifiedMatching OMIM:606821 COG5 skos:exactMatch ncbigene:10466 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch UMLS:C1826644 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch UMLS:C3151519 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch UMLS:C4310704 semapv:UnspecifiedMatching -OMIM:606822 POMGNT1 skos:exactMatch hgnc:POMGNT1 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:19139 semapv:UnspecifiedMatching +OMIM:606822 POMGNT1 skos:exactMatch hgnc.symbol:POMGNT1 semapv:UnspecifiedMatching OMIM:606822 POMGNT1 skos:exactMatch ncbigene:55624 semapv:UnspecifiedMatching -OMIM:606823 ADGRA2 skos:exactMatch hgnc:ADGRA2 semapv:UnspecifiedMatching +OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:17849 semapv:UnspecifiedMatching +OMIM:606823 ADGRA2 skos:exactMatch hgnc.symbol:ADGRA2 semapv:UnspecifiedMatching OMIM:606823 ADGRA2 skos:exactMatch ncbigene:25960 semapv:UnspecifiedMatching -OMIM:606825 TNS3 skos:exactMatch hgnc:TNS3 semapv:UnspecifiedMatching +OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:21616 semapv:UnspecifiedMatching +OMIM:606825 TNS3 skos:exactMatch hgnc.symbol:TNS3 semapv:UnspecifiedMatching OMIM:606825 TNS3 skos:exactMatch ncbigene:64759 semapv:UnspecifiedMatching -OMIM:606826 PLXDC1 skos:exactMatch hgnc:PLXDC1 semapv:UnspecifiedMatching +OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:20945 semapv:UnspecifiedMatching +OMIM:606826 PLXDC1 skos:exactMatch hgnc.symbol:PLXDC1 semapv:UnspecifiedMatching OMIM:606826 PLXDC1 skos:exactMatch ncbigene:57125 semapv:UnspecifiedMatching -OMIM:606827 PLXDC2 skos:exactMatch hgnc:PLXDC2 semapv:UnspecifiedMatching +OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:21013 semapv:UnspecifiedMatching +OMIM:606827 PLXDC2 skos:exactMatch hgnc.symbol:PLXDC2 semapv:UnspecifiedMatching OMIM:606827 PLXDC2 skos:exactMatch ncbigene:84898 semapv:UnspecifiedMatching -OMIM:606828 NAGK skos:exactMatch hgnc:NAGK semapv:UnspecifiedMatching +OMIM:606828 NAGK skos:exactMatch hgnc.symbol:17174 semapv:UnspecifiedMatching +OMIM:606828 NAGK skos:exactMatch hgnc.symbol:NAGK semapv:UnspecifiedMatching OMIM:606828 NAGK skos:exactMatch ncbigene:55577 semapv:UnspecifiedMatching -OMIM:606829 FXN skos:exactMatch hgnc:FXN semapv:UnspecifiedMatching +OMIM:606829 FXN skos:exactMatch hgnc.symbol:3951 semapv:UnspecifiedMatching +OMIM:606829 FXN skos:exactMatch hgnc.symbol:FXN semapv:UnspecifiedMatching OMIM:606829 FXN skos:exactMatch ncbigene:2395 semapv:UnspecifiedMatching -OMIM:606830 AGTPBP1 skos:exactMatch hgnc:AGTPBP1 semapv:UnspecifiedMatching +OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:17258 semapv:UnspecifiedMatching +OMIM:606830 AGTPBP1 skos:exactMatch hgnc.symbol:AGTPBP1 semapv:UnspecifiedMatching OMIM:606830 AGTPBP1 skos:exactMatch ncbigene:23287 semapv:UnspecifiedMatching -OMIM:606831 NLRC4 skos:exactMatch hgnc:NLRC4 semapv:UnspecifiedMatching +OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:16412 semapv:UnspecifiedMatching +OMIM:606831 NLRC4 skos:exactMatch hgnc.symbol:NLRC4 semapv:UnspecifiedMatching OMIM:606831 NLRC4 skos:exactMatch ncbigene:58484 semapv:UnspecifiedMatching -OMIM:606832 ERAP1 skos:exactMatch hgnc:ERAP1 semapv:UnspecifiedMatching +OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:18173 semapv:UnspecifiedMatching +OMIM:606832 ERAP1 skos:exactMatch hgnc.symbol:ERAP1 semapv:UnspecifiedMatching OMIM:606832 ERAP1 skos:exactMatch ncbigene:51752 semapv:UnspecifiedMatching -OMIM:606833 KMT2C skos:exactMatch hgnc:KMT2C semapv:UnspecifiedMatching +OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:13726 semapv:UnspecifiedMatching +OMIM:606833 KMT2C skos:exactMatch hgnc.symbol:KMT2C semapv:UnspecifiedMatching OMIM:606833 KMT2C skos:exactMatch ncbigene:58508 semapv:UnspecifiedMatching -OMIM:606834 KMT2B skos:exactMatch hgnc:KMT2B semapv:UnspecifiedMatching +OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:15840 semapv:UnspecifiedMatching +OMIM:606834 KMT2B skos:exactMatch hgnc.symbol:KMT2B semapv:UnspecifiedMatching OMIM:606834 KMT2B skos:exactMatch ncbigene:9757 semapv:UnspecifiedMatching -OMIM:606836 GCNT3 skos:exactMatch hgnc:GCNT3 semapv:UnspecifiedMatching +OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:4205 semapv:UnspecifiedMatching +OMIM:606836 GCNT3 skos:exactMatch hgnc.symbol:GCNT3 semapv:UnspecifiedMatching OMIM:606836 GCNT3 skos:exactMatch ncbigene:9245 semapv:UnspecifiedMatching -OMIM:606837 RB1CC1 skos:exactMatch hgnc:RB1CC1 semapv:UnspecifiedMatching +OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:15574 semapv:UnspecifiedMatching +OMIM:606837 RB1CC1 skos:exactMatch hgnc.symbol:RB1CC1 semapv:UnspecifiedMatching OMIM:606837 RB1CC1 skos:exactMatch ncbigene:9821 semapv:UnspecifiedMatching -OMIM:606838 PYCARD skos:exactMatch hgnc:PYCARD semapv:UnspecifiedMatching +OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:16608 semapv:UnspecifiedMatching +OMIM:606838 PYCARD skos:exactMatch hgnc.symbol:PYCARD semapv:UnspecifiedMatching OMIM:606838 PYCARD skos:exactMatch ncbigene:29108 semapv:UnspecifiedMatching -OMIM:606839 CDHR5 skos:exactMatch hgnc:CDHR5 semapv:UnspecifiedMatching +OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:7521 semapv:UnspecifiedMatching +OMIM:606839 CDHR5 skos:exactMatch hgnc.symbol:CDHR5 semapv:UnspecifiedMatching OMIM:606839 CDHR5 skos:exactMatch ncbigene:53841 semapv:UnspecifiedMatching -OMIM:606841 DEDD skos:exactMatch hgnc:DEDD semapv:UnspecifiedMatching +OMIM:606841 DEDD skos:exactMatch hgnc.symbol:2755 semapv:UnspecifiedMatching +OMIM:606841 DEDD skos:exactMatch hgnc.symbol:DEDD semapv:UnspecifiedMatching OMIM:606841 DEDD skos:exactMatch ncbigene:9191 semapv:UnspecifiedMatching -OMIM:606844 ALMS1 skos:exactMatch hgnc:ALMS1 semapv:UnspecifiedMatching +OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:428 semapv:UnspecifiedMatching +OMIM:606844 ALMS1 skos:exactMatch hgnc.symbol:ALMS1 semapv:UnspecifiedMatching OMIM:606844 ALMS1 skos:exactMatch ncbigene:7840 semapv:UnspecifiedMatching -OMIM:606845 GOPC skos:exactMatch hgnc:GOPC semapv:UnspecifiedMatching +OMIM:606845 GOPC skos:exactMatch hgnc.symbol:17643 semapv:UnspecifiedMatching +OMIM:606845 GOPC skos:exactMatch hgnc.symbol:GOPC semapv:UnspecifiedMatching OMIM:606845 GOPC skos:exactMatch ncbigene:57120 semapv:UnspecifiedMatching -OMIM:606846 SMYD1 skos:exactMatch hgnc:SMYD1 semapv:UnspecifiedMatching +OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:20986 semapv:UnspecifiedMatching +OMIM:606846 SMYD1 skos:exactMatch hgnc.symbol:SMYD1 semapv:UnspecifiedMatching OMIM:606846 SMYD1 skos:exactMatch ncbigene:150572 semapv:UnspecifiedMatching -OMIM:606847 TCOF1 skos:exactMatch hgnc:TCOF1 semapv:UnspecifiedMatching +OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:11654 semapv:UnspecifiedMatching +OMIM:606847 TCOF1 skos:exactMatch hgnc.symbol:TCOF1 semapv:UnspecifiedMatching OMIM:606847 TCOF1 skos:exactMatch ncbigene:6949 semapv:UnspecifiedMatching OMIM:606848 NEK7 skos:exactMatch UMLS:C1421968 semapv:UnspecifiedMatching -OMIM:606848 NEK7 skos:exactMatch hgnc:NEK7 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:13386 semapv:UnspecifiedMatching +OMIM:606848 NEK7 skos:exactMatch hgnc.symbol:NEK7 semapv:UnspecifiedMatching OMIM:606848 NEK7 skos:exactMatch ncbigene:140609 semapv:UnspecifiedMatching -OMIM:606849 UBL5 skos:exactMatch hgnc:UBL5 semapv:UnspecifiedMatching +OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:13736 semapv:UnspecifiedMatching +OMIM:606849 UBL5 skos:exactMatch hgnc.symbol:UBL5 semapv:UnspecifiedMatching OMIM:606849 UBL5 skos:exactMatch ncbigene:59286 semapv:UnspecifiedMatching -OMIM:606850 MIPOL1 skos:exactMatch hgnc:MIPOL1 semapv:UnspecifiedMatching +OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:21460 semapv:UnspecifiedMatching +OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:MIPOL1 semapv:UnspecifiedMatching OMIM:606850 MIPOL1 skos:exactMatch ncbigene:145282 semapv:UnspecifiedMatching -OMIM:606853 ATP6V1G2 skos:exactMatch hgnc:ATP6V1G2 semapv:UnspecifiedMatching +OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:862 semapv:UnspecifiedMatching +OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:ATP6V1G2 semapv:UnspecifiedMatching OMIM:606853 ATP6V1G2 skos:exactMatch ncbigene:534 semapv:UnspecifiedMatching -OMIM:606855 RLN3 skos:exactMatch hgnc:RLN3 semapv:UnspecifiedMatching +OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:17135 semapv:UnspecifiedMatching +OMIM:606855 RLN3 skos:exactMatch hgnc.symbol:RLN3 semapv:UnspecifiedMatching OMIM:606855 RLN3 skos:exactMatch ncbigene:117579 semapv:UnspecifiedMatching -OMIM:606857 GCLC skos:exactMatch hgnc:GCLC semapv:UnspecifiedMatching +OMIM:606857 GCLC skos:exactMatch hgnc.symbol:4311 semapv:UnspecifiedMatching +OMIM:606857 GCLC skos:exactMatch hgnc.symbol:GCLC semapv:UnspecifiedMatching OMIM:606857 GCLC skos:exactMatch ncbigene:2729 semapv:UnspecifiedMatching -OMIM:606860 C1NH skos:exactMatch hgnc:SERPING1 semapv:UnspecifiedMatching +OMIM:606860 C1NH skos:exactMatch hgnc.symbol:1228 semapv:UnspecifiedMatching +OMIM:606860 C1NH skos:exactMatch hgnc.symbol:SERPING1 semapv:UnspecifiedMatching OMIM:606860 C1NH skos:exactMatch ncbigene:710 semapv:UnspecifiedMatching -OMIM:606861 PATE skos:exactMatch hgnc:PATE1 semapv:UnspecifiedMatching +OMIM:606861 PATE skos:exactMatch hgnc.symbol:24664 semapv:UnspecifiedMatching +OMIM:606861 PATE skos:exactMatch hgnc.symbol:PATE1 semapv:UnspecifiedMatching OMIM:606861 PATE skos:exactMatch ncbigene:160065 semapv:UnspecifiedMatching OMIM:606862 OSCAR skos:exactMatch UMLS:C1847321 semapv:UnspecifiedMatching -OMIM:606862 OSCAR skos:exactMatch hgnc:OSCAR semapv:UnspecifiedMatching +OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:29960 semapv:UnspecifiedMatching +OMIM:606862 OSCAR skos:exactMatch hgnc.symbol:OSCAR semapv:UnspecifiedMatching OMIM:606862 OSCAR skos:exactMatch ncbigene:126014 semapv:UnspecifiedMatching OMIM:606863 TOX skos:exactMatch UMLS:C1847320 semapv:UnspecifiedMatching -OMIM:606863 TOX skos:exactMatch hgnc:TOX semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch hgnc.symbol:18988 semapv:UnspecifiedMatching +OMIM:606863 TOX skos:exactMatch hgnc.symbol:TOX semapv:UnspecifiedMatching OMIM:606863 TOX skos:exactMatch ncbigene:9760 semapv:UnspecifiedMatching -OMIM:606865 FUT9 skos:exactMatch hgnc:FUT9 semapv:UnspecifiedMatching +OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:4020 semapv:UnspecifiedMatching +OMIM:606865 FUT9 skos:exactMatch hgnc.symbol:FUT9 semapv:UnspecifiedMatching OMIM:606865 FUT9 skos:exactMatch ncbigene:10690 semapv:UnspecifiedMatching -OMIM:606866 MRPL49 skos:exactMatch hgnc:MRPL49 semapv:UnspecifiedMatching +OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:1176 semapv:UnspecifiedMatching +OMIM:606866 MRPL49 skos:exactMatch hgnc.symbol:MRPL49 semapv:UnspecifiedMatching OMIM:606866 MRPL49 skos:exactMatch ncbigene:740 semapv:UnspecifiedMatching -OMIM:606867 GORASP1 skos:exactMatch hgnc:GORASP1 semapv:UnspecifiedMatching +OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:16769 semapv:UnspecifiedMatching +OMIM:606867 GORASP1 skos:exactMatch hgnc.symbol:GORASP1 semapv:UnspecifiedMatching OMIM:606867 GORASP1 skos:exactMatch ncbigene:64689 semapv:UnspecifiedMatching -OMIM:606868 HIPK2 skos:exactMatch hgnc:HIPK2 semapv:UnspecifiedMatching +OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:14402 semapv:UnspecifiedMatching +OMIM:606868 HIPK2 skos:exactMatch hgnc.symbol:HIPK2 semapv:UnspecifiedMatching OMIM:606868 HIPK2 skos:exactMatch ncbigene:28996 semapv:UnspecifiedMatching -OMIM:606869 HEXA skos:exactMatch hgnc:HEXA semapv:UnspecifiedMatching +OMIM:606869 HEXA skos:exactMatch hgnc.symbol:4878 semapv:UnspecifiedMatching +OMIM:606869 HEXA skos:exactMatch hgnc.symbol:HEXA semapv:UnspecifiedMatching OMIM:606869 HEXA skos:exactMatch ncbigene:3073 semapv:UnspecifiedMatching OMIM:606870 JAM2 skos:exactMatch UMLS:C1422840 semapv:UnspecifiedMatching OMIM:606870 JAM2 skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching -OMIM:606870 JAM2 skos:exactMatch hgnc:JAM2 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:14686 semapv:UnspecifiedMatching +OMIM:606870 JAM2 skos:exactMatch hgnc.symbol:JAM2 semapv:UnspecifiedMatching OMIM:606870 JAM2 skos:exactMatch ncbigene:58494 semapv:UnspecifiedMatching OMIM:606871 JAM3 skos:exactMatch UMLS:C1423559 semapv:UnspecifiedMatching OMIM:606871 JAM3 skos:exactMatch UMLS:C3151000 semapv:UnspecifiedMatching -OMIM:606871 JAM3 skos:exactMatch hgnc:JAM3 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:15532 semapv:UnspecifiedMatching +OMIM:606871 JAM3 skos:exactMatch hgnc.symbol:JAM3 semapv:UnspecifiedMatching OMIM:606871 JAM3 skos:exactMatch ncbigene:83700 semapv:UnspecifiedMatching -OMIM:606872 CBLL1 skos:exactMatch hgnc:CBLL1 semapv:UnspecifiedMatching +OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:21225 semapv:UnspecifiedMatching +OMIM:606872 CBLL1 skos:exactMatch hgnc.symbol:CBLL1 semapv:UnspecifiedMatching OMIM:606872 CBLL1 skos:exactMatch ncbigene:79872 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C0036161 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C0751489 semapv:UnspecifiedMatching @@ -22410,113 +31010,160 @@ OMIM:606873 HEXB skos:exactMatch UMLS:C4016989 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C4310842 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C4310887 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch UMLS:C4310888 semapv:UnspecifiedMatching -OMIM:606873 HEXB skos:exactMatch hgnc:HEXB semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch hgnc.symbol:4879 semapv:UnspecifiedMatching +OMIM:606873 HEXB skos:exactMatch hgnc.symbol:HEXB semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch ncbigene:3074 semapv:UnspecifiedMatching -OMIM:606876 PITPNB skos:exactMatch hgnc:PITPNB semapv:UnspecifiedMatching +OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:9002 semapv:UnspecifiedMatching +OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:PITPNB semapv:UnspecifiedMatching OMIM:606876 PITPNB skos:exactMatch ncbigene:23760 semapv:UnspecifiedMatching -OMIM:606877 ANP32C skos:exactMatch hgnc:ANP32CP semapv:UnspecifiedMatching +OMIM:606877 ANP32C skos:exactMatch hgnc.symbol:ANP32CP semapv:UnspecifiedMatching OMIM:606877 ANP32C skos:exactMatch ncbigene:23520 semapv:UnspecifiedMatching -OMIM:606878 ANP32D skos:exactMatch hgnc:ANP32D semapv:UnspecifiedMatching +OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:16676 semapv:UnspecifiedMatching +OMIM:606878 ANP32D skos:exactMatch hgnc.symbol:ANP32D semapv:UnspecifiedMatching OMIM:606878 ANP32D skos:exactMatch ncbigene:23519 semapv:UnspecifiedMatching OMIM:606879 PHGDH skos:exactMatch UMLS:C1418531 semapv:UnspecifiedMatching OMIM:606879 PHGDH skos:exactMatch UMLS:C1866174 semapv:UnspecifiedMatching OMIM:606879 PHGDH skos:exactMatch UMLS:C4551478 semapv:UnspecifiedMatching -OMIM:606879 PHGDH skos:exactMatch hgnc:PHGDH semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:8923 semapv:UnspecifiedMatching +OMIM:606879 PHGDH skos:exactMatch hgnc.symbol:PHGDH semapv:UnspecifiedMatching OMIM:606879 PHGDH skos:exactMatch ncbigene:26227 semapv:UnspecifiedMatching -OMIM:606880 CASP8AP2 skos:exactMatch hgnc:CASP8AP2 semapv:UnspecifiedMatching +OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:1510 semapv:UnspecifiedMatching +OMIM:606880 CASP8AP2 skos:exactMatch hgnc.symbol:CASP8AP2 semapv:UnspecifiedMatching OMIM:606880 CASP8AP2 skos:exactMatch ncbigene:9994 semapv:UnspecifiedMatching -OMIM:606881 FHOD1 skos:exactMatch hgnc:FHOD1 semapv:UnspecifiedMatching +OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:17905 semapv:UnspecifiedMatching +OMIM:606881 FHOD1 skos:exactMatch hgnc.symbol:FHOD1 semapv:UnspecifiedMatching OMIM:606881 FHOD1 skos:exactMatch ncbigene:29109 semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch UMLS:C0019202 semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch UMLS:C1412689 semapv:UnspecifiedMatching -OMIM:606882 ATP7B skos:exactMatch hgnc:ATP7B semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:870 semapv:UnspecifiedMatching +OMIM:606882 ATP7B skos:exactMatch hgnc.symbol:ATP7B semapv:UnspecifiedMatching OMIM:606882 ATP7B skos:exactMatch ncbigene:540 semapv:UnspecifiedMatching OMIM:606883 IRAK4 skos:exactMatch UMLS:C1334137 semapv:UnspecifiedMatching OMIM:606883 IRAK4 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching -OMIM:606883 IRAK4 skos:exactMatch hgnc:IRAK4 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:17967 semapv:UnspecifiedMatching +OMIM:606883 IRAK4 skos:exactMatch hgnc.symbol:IRAK4 semapv:UnspecifiedMatching OMIM:606883 IRAK4 skos:exactMatch ncbigene:51135 semapv:UnspecifiedMatching -OMIM:606884 RBM5 skos:exactMatch hgnc:RBM5 semapv:UnspecifiedMatching +OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:9902 semapv:UnspecifiedMatching +OMIM:606884 RBM5 skos:exactMatch hgnc.symbol:RBM5 semapv:UnspecifiedMatching OMIM:606884 RBM5 skos:exactMatch ncbigene:10181 semapv:UnspecifiedMatching -OMIM:606885 ACADS skos:exactMatch hgnc:ACADS semapv:UnspecifiedMatching +OMIM:606885 ACADS skos:exactMatch hgnc.symbol:90 semapv:UnspecifiedMatching +OMIM:606885 ACADS skos:exactMatch hgnc.symbol:ACADS semapv:UnspecifiedMatching OMIM:606885 ACADS skos:exactMatch ncbigene:35 semapv:UnspecifiedMatching -OMIM:606886 RBM6 skos:exactMatch hgnc:RBM6 semapv:UnspecifiedMatching +OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:9903 semapv:UnspecifiedMatching +OMIM:606886 RBM6 skos:exactMatch hgnc.symbol:RBM6 semapv:UnspecifiedMatching OMIM:606886 RBM6 skos:exactMatch ncbigene:10180 semapv:UnspecifiedMatching OMIM:606887 SUOX skos:exactMatch UMLS:C1420521 semapv:UnspecifiedMatching OMIM:606887 SUOX skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching -OMIM:606887 SUOX skos:exactMatch hgnc:SUOX semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch hgnc.symbol:11460 semapv:UnspecifiedMatching +OMIM:606887 SUOX skos:exactMatch hgnc.symbol:SUOX semapv:UnspecifiedMatching OMIM:606887 SUOX skos:exactMatch ncbigene:6821 semapv:UnspecifiedMatching -OMIM:606888 CHRNA6 skos:exactMatch hgnc:CHRNA6 semapv:UnspecifiedMatching +OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:15963 semapv:UnspecifiedMatching +OMIM:606888 CHRNA6 skos:exactMatch hgnc.symbol:CHRNA6 semapv:UnspecifiedMatching OMIM:606888 CHRNA6 skos:exactMatch ncbigene:8973 semapv:UnspecifiedMatching -OMIM:606890 GALC skos:exactMatch hgnc:GALC semapv:UnspecifiedMatching +OMIM:606890 GALC skos:exactMatch hgnc.symbol:4115 semapv:UnspecifiedMatching +OMIM:606890 GALC skos:exactMatch hgnc.symbol:GALC semapv:UnspecifiedMatching OMIM:606890 GALC skos:exactMatch ncbigene:2581 semapv:UnspecifiedMatching -OMIM:606891 FCRLA skos:exactMatch hgnc:FCRLA semapv:UnspecifiedMatching +OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:18504 semapv:UnspecifiedMatching +OMIM:606891 FCRLA skos:exactMatch hgnc.symbol:FCRLA semapv:UnspecifiedMatching OMIM:606891 FCRLA skos:exactMatch ncbigene:84824 semapv:UnspecifiedMatching -OMIM:606892 STX12 skos:exactMatch hgnc:STX12 semapv:UnspecifiedMatching +OMIM:606892 STX12 skos:exactMatch hgnc.symbol:11430 semapv:UnspecifiedMatching +OMIM:606892 STX12 skos:exactMatch hgnc.symbol:STX12 semapv:UnspecifiedMatching OMIM:606892 STX12 skos:exactMatch ncbigene:23673 semapv:UnspecifiedMatching -OMIM:606897 LYST skos:exactMatch hgnc:LYST semapv:UnspecifiedMatching +OMIM:606897 LYST skos:exactMatch hgnc.symbol:1968 semapv:UnspecifiedMatching +OMIM:606897 LYST skos:exactMatch hgnc.symbol:LYST semapv:UnspecifiedMatching OMIM:606897 LYST skos:exactMatch ncbigene:1130 semapv:UnspecifiedMatching -OMIM:606898 CACNG6 skos:exactMatch hgnc:CACNG6 semapv:UnspecifiedMatching +OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:13625 semapv:UnspecifiedMatching +OMIM:606898 CACNG6 skos:exactMatch hgnc.symbol:CACNG6 semapv:UnspecifiedMatching OMIM:606898 CACNG6 skos:exactMatch ncbigene:59285 semapv:UnspecifiedMatching -OMIM:606899 CACNG7 skos:exactMatch hgnc:CACNG7 semapv:UnspecifiedMatching +OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:13626 semapv:UnspecifiedMatching +OMIM:606899 CACNG7 skos:exactMatch hgnc.symbol:CACNG7 semapv:UnspecifiedMatching OMIM:606899 CACNG7 skos:exactMatch ncbigene:59284 semapv:UnspecifiedMatching -OMIM:606900 CACNG8 skos:exactMatch hgnc:CACNG8 semapv:UnspecifiedMatching +OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:13628 semapv:UnspecifiedMatching +OMIM:606900 CACNG8 skos:exactMatch hgnc.symbol:CACNG8 semapv:UnspecifiedMatching OMIM:606900 CACNG8 skos:exactMatch ncbigene:59283 semapv:UnspecifiedMatching OMIM:606902 PYGO1 skos:exactMatch UMLS:C1538758 semapv:UnspecifiedMatching -OMIM:606902 PYGO1 skos:exactMatch hgnc:PYGO1 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:30256 semapv:UnspecifiedMatching +OMIM:606902 PYGO1 skos:exactMatch hgnc.symbol:PYGO1 semapv:UnspecifiedMatching OMIM:606902 PYGO1 skos:exactMatch ncbigene:26108 semapv:UnspecifiedMatching OMIM:606903 PYGO2 skos:exactMatch UMLS:C1538759 semapv:UnspecifiedMatching -OMIM:606903 PYGO2 skos:exactMatch hgnc:PYGO2 semapv:UnspecifiedMatching +OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:30257 semapv:UnspecifiedMatching +OMIM:606903 PYGO2 skos:exactMatch hgnc.symbol:PYGO2 semapv:UnspecifiedMatching OMIM:606903 PYGO2 skos:exactMatch ncbigene:90780 semapv:UnspecifiedMatching -OMIM:606905 PREX1 skos:exactMatch hgnc:PREX1 semapv:UnspecifiedMatching +OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:32594 semapv:UnspecifiedMatching +OMIM:606905 PREX1 skos:exactMatch hgnc.symbol:PREX1 semapv:UnspecifiedMatching OMIM:606905 PREX1 skos:exactMatch ncbigene:57580 semapv:UnspecifiedMatching -OMIM:606906 MRM2 skos:exactMatch hgnc:MRM2 semapv:UnspecifiedMatching +OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:16352 semapv:UnspecifiedMatching +OMIM:606906 MRM2 skos:exactMatch hgnc.symbol:MRM2 semapv:UnspecifiedMatching OMIM:606906 MRM2 skos:exactMatch ncbigene:29960 semapv:UnspecifiedMatching -OMIM:606907 APOM skos:exactMatch hgnc:APOM semapv:UnspecifiedMatching +OMIM:606907 APOM skos:exactMatch hgnc.symbol:13916 semapv:UnspecifiedMatching +OMIM:606907 APOM skos:exactMatch hgnc.symbol:APOM semapv:UnspecifiedMatching OMIM:606907 APOM skos:exactMatch ncbigene:55937 semapv:UnspecifiedMatching -OMIM:606908 ARFGAP2 skos:exactMatch hgnc:ARFGAP2 semapv:UnspecifiedMatching +OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:13504 semapv:UnspecifiedMatching +OMIM:606908 ARFGAP2 skos:exactMatch hgnc.symbol:ARFGAP2 semapv:UnspecifiedMatching OMIM:606908 ARFGAP2 skos:exactMatch ncbigene:84364 semapv:UnspecifiedMatching -OMIM:606909 VAMP4 skos:exactMatch hgnc:VAMP4 semapv:UnspecifiedMatching +OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:12645 semapv:UnspecifiedMatching +OMIM:606909 VAMP4 skos:exactMatch hgnc.symbol:VAMP4 semapv:UnspecifiedMatching OMIM:606909 VAMP4 skos:exactMatch ncbigene:8674 semapv:UnspecifiedMatching -OMIM:606910 BCL2L10 skos:exactMatch hgnc:BCL2L10 semapv:UnspecifiedMatching +OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:993 semapv:UnspecifiedMatching +OMIM:606910 BCL2L10 skos:exactMatch hgnc.symbol:BCL2L10 semapv:UnspecifiedMatching OMIM:606910 BCL2L10 skos:exactMatch ncbigene:10017 semapv:UnspecifiedMatching -OMIM:606911 SCAMP1 skos:exactMatch hgnc:SCAMP1 semapv:UnspecifiedMatching +OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:10563 semapv:UnspecifiedMatching +OMIM:606911 SCAMP1 skos:exactMatch hgnc.symbol:SCAMP1 semapv:UnspecifiedMatching OMIM:606911 SCAMP1 skos:exactMatch ncbigene:9522 semapv:UnspecifiedMatching -OMIM:606912 SCAMP2 skos:exactMatch hgnc:SCAMP2 semapv:UnspecifiedMatching +OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:10564 semapv:UnspecifiedMatching +OMIM:606912 SCAMP2 skos:exactMatch hgnc.symbol:SCAMP2 semapv:UnspecifiedMatching OMIM:606912 SCAMP2 skos:exactMatch ncbigene:10066 semapv:UnspecifiedMatching -OMIM:606913 SCAMP3 skos:exactMatch hgnc:SCAMP3 semapv:UnspecifiedMatching +OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:10565 semapv:UnspecifiedMatching +OMIM:606913 SCAMP3 skos:exactMatch hgnc.symbol:SCAMP3 semapv:UnspecifiedMatching OMIM:606913 SCAMP3 skos:exactMatch ncbigene:10067 semapv:UnspecifiedMatching -OMIM:606914 PKIB skos:exactMatch hgnc:PKIB semapv:UnspecifiedMatching +OMIM:606914 PKIB skos:exactMatch hgnc.symbol:9018 semapv:UnspecifiedMatching +OMIM:606914 PKIB skos:exactMatch hgnc.symbol:PKIB semapv:UnspecifiedMatching OMIM:606914 PKIB skos:exactMatch ncbigene:5570 semapv:UnspecifiedMatching -OMIM:606915 GPR63 skos:exactMatch hgnc:GPR63 semapv:UnspecifiedMatching +OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:13302 semapv:UnspecifiedMatching +OMIM:606915 GPR63 skos:exactMatch hgnc.symbol:GPR63 semapv:UnspecifiedMatching OMIM:606915 GPR63 skos:exactMatch ncbigene:81491 semapv:UnspecifiedMatching -OMIM:606916 GPR61 skos:exactMatch hgnc:GPR61 semapv:UnspecifiedMatching +OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:13300 semapv:UnspecifiedMatching +OMIM:606916 GPR61 skos:exactMatch hgnc.symbol:GPR61 semapv:UnspecifiedMatching OMIM:606916 GPR61 skos:exactMatch ncbigene:83873 semapv:UnspecifiedMatching -OMIM:606917 GPR62 skos:exactMatch hgnc:GPR62 semapv:UnspecifiedMatching +OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:13301 semapv:UnspecifiedMatching +OMIM:606917 GPR62 skos:exactMatch hgnc.symbol:GPR62 semapv:UnspecifiedMatching OMIM:606917 GPR62 skos:exactMatch ncbigene:118442 semapv:UnspecifiedMatching -OMIM:606918 GOLGA5 skos:exactMatch hgnc:GOLGA5 semapv:UnspecifiedMatching +OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:4428 semapv:UnspecifiedMatching +OMIM:606918 GOLGA5 skos:exactMatch hgnc.symbol:GOLGA5 semapv:UnspecifiedMatching OMIM:606918 GOLGA5 skos:exactMatch ncbigene:9950 semapv:UnspecifiedMatching -OMIM:606919 CERS1 skos:exactMatch hgnc:CERS1 semapv:UnspecifiedMatching +OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:14253 semapv:UnspecifiedMatching +OMIM:606919 CERS1 skos:exactMatch hgnc.symbol:CERS1 semapv:UnspecifiedMatching OMIM:606919 CERS1 skos:exactMatch ncbigene:10715 semapv:UnspecifiedMatching -OMIM:606920 CERS2 skos:exactMatch hgnc:CERS2 semapv:UnspecifiedMatching +OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:14076 semapv:UnspecifiedMatching +OMIM:606920 CERS2 skos:exactMatch hgnc.symbol:CERS2 semapv:UnspecifiedMatching OMIM:606920 CERS2 skos:exactMatch ncbigene:29956 semapv:UnspecifiedMatching -OMIM:606921 GPR78 skos:exactMatch hgnc:GPR78 semapv:UnspecifiedMatching +OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:4528 semapv:UnspecifiedMatching +OMIM:606921 GPR78 skos:exactMatch hgnc.symbol:GPR78 semapv:UnspecifiedMatching OMIM:606921 GPR78 skos:exactMatch ncbigene:27201 semapv:UnspecifiedMatching -OMIM:606922 OXGR1 skos:exactMatch hgnc:OXGR1 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:4531 semapv:UnspecifiedMatching +OMIM:606922 OXGR1 skos:exactMatch hgnc.symbol:OXGR1 semapv:UnspecifiedMatching OMIM:606922 OXGR1 skos:exactMatch ncbigene:27199 semapv:UnspecifiedMatching -OMIM:606923 HCAR1 skos:exactMatch hgnc:HCAR1 semapv:UnspecifiedMatching +OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:4532 semapv:UnspecifiedMatching +OMIM:606923 HCAR1 skos:exactMatch hgnc.symbol:HCAR1 semapv:UnspecifiedMatching OMIM:606923 HCAR1 skos:exactMatch ncbigene:27198 semapv:UnspecifiedMatching -OMIM:606925 QRFPR skos:exactMatch hgnc:QRFPR semapv:UnspecifiedMatching +OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:15565 semapv:UnspecifiedMatching +OMIM:606925 QRFPR skos:exactMatch hgnc.symbol:QRFPR semapv:UnspecifiedMatching OMIM:606925 QRFPR skos:exactMatch ncbigene:84109 semapv:UnspecifiedMatching -OMIM:606926 LPAR5 skos:exactMatch hgnc:LPAR5 semapv:UnspecifiedMatching +OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:13307 semapv:UnspecifiedMatching +OMIM:606926 LPAR5 skos:exactMatch hgnc.symbol:LPAR5 semapv:UnspecifiedMatching OMIM:606926 LPAR5 skos:exactMatch ncbigene:57121 semapv:UnspecifiedMatching -OMIM:606927 TAAR8 skos:exactMatch hgnc:TAAR8 semapv:UnspecifiedMatching +OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:14964 semapv:UnspecifiedMatching +OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:TAAR8 semapv:UnspecifiedMatching OMIM:606927 TAAR8 skos:exactMatch ncbigene:83551 semapv:UnspecifiedMatching -OMIM:606929 THOC3 skos:exactMatch hgnc:THOC3 semapv:UnspecifiedMatching +OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:19072 semapv:UnspecifiedMatching +OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:THOC3 semapv:UnspecifiedMatching OMIM:606929 THOC3 skos:exactMatch ncbigene:84321 semapv:UnspecifiedMatching -OMIM:606930 THOC1 skos:exactMatch hgnc:THOC1 semapv:UnspecifiedMatching +OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:19070 semapv:UnspecifiedMatching +OMIM:606930 THOC1 skos:exactMatch hgnc.symbol:THOC1 semapv:UnspecifiedMatching OMIM:606930 THOC1 skos:exactMatch ncbigene:9984 semapv:UnspecifiedMatching OMIM:606932 VPS29 skos:exactMatch UMLS:C1422577 semapv:UnspecifiedMatching -OMIM:606932 VPS29 skos:exactMatch hgnc:VPS29 semapv:UnspecifiedMatching +OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:14340 semapv:UnspecifiedMatching +OMIM:606932 VPS29 skos:exactMatch hgnc.symbol:VPS29 semapv:UnspecifiedMatching OMIM:606932 VPS29 skos:exactMatch ncbigene:51699 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C1421250 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching @@ -22526,133 +31173,185 @@ OMIM:606933 TYR skos:exactMatch UMLS:C3149136 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C3152204 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C4225528 semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch UMLS:C4551504 semapv:UnspecifiedMatching -OMIM:606933 TYR skos:exactMatch hgnc:TYR semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch hgnc.symbol:12442 semapv:UnspecifiedMatching +OMIM:606933 TYR skos:exactMatch hgnc.symbol:TYR semapv:UnspecifiedMatching OMIM:606933 TYR skos:exactMatch ncbigene:7299 semapv:UnspecifiedMatching -OMIM:606934 NDUFAF1 skos:exactMatch hgnc:NDUFAF1 semapv:UnspecifiedMatching +OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:18828 semapv:UnspecifiedMatching +OMIM:606934 NDUFAF1 skos:exactMatch hgnc.symbol:NDUFAF1 semapv:UnspecifiedMatching OMIM:606934 NDUFAF1 skos:exactMatch ncbigene:51103 semapv:UnspecifiedMatching -OMIM:606935 RBM17 skos:exactMatch hgnc:RBM17 semapv:UnspecifiedMatching +OMIM:606935 RBM17 skos:exactMatch hgnc.symbol:16944 semapv:UnspecifiedMatching +OMIM:606935 RBM17 skos:exactMatch hgnc.symbol:RBM17 semapv:UnspecifiedMatching OMIM:606935 RBM17 skos:exactMatch ncbigene:84991 semapv:UnspecifiedMatching -OMIM:606936 TRPM4 skos:exactMatch hgnc:TRPM4 semapv:UnspecifiedMatching +OMIM:606936 TRPM4 skos:exactMatch hgnc.symbol:17993 semapv:UnspecifiedMatching +OMIM:606936 TRPM4 skos:exactMatch hgnc.symbol:TRPM4 semapv:UnspecifiedMatching OMIM:606936 TRPM4 skos:exactMatch ncbigene:54795 semapv:UnspecifiedMatching -OMIM:606938 UROS skos:exactMatch hgnc:UROS semapv:UnspecifiedMatching +OMIM:606938 UROS skos:exactMatch hgnc.symbol:12592 semapv:UnspecifiedMatching +OMIM:606938 UROS skos:exactMatch hgnc.symbol:UROS semapv:UnspecifiedMatching OMIM:606938 UROS skos:exactMatch ncbigene:7390 semapv:UnspecifiedMatching -OMIM:606939 ATP6V1B2 skos:exactMatch hgnc:ATP6V1B2 semapv:UnspecifiedMatching +OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:854 semapv:UnspecifiedMatching +OMIM:606939 ATP6V1B2 skos:exactMatch hgnc.symbol:ATP6V1B2 semapv:UnspecifiedMatching OMIM:606939 ATP6V1B2 skos:exactMatch ncbigene:526 semapv:UnspecifiedMatching -OMIM:606940 ZFHX4 skos:exactMatch hgnc:ZFHX4 semapv:UnspecifiedMatching +OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:30939 semapv:UnspecifiedMatching +OMIM:606940 ZFHX4 skos:exactMatch hgnc.symbol:ZFHX4 semapv:UnspecifiedMatching OMIM:606940 ZFHX4 skos:exactMatch ncbigene:79776 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch UMLS:C1538263 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch UMLS:C1849762 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch UMLS:C2931006 semapv:UnspecifiedMatching -OMIM:606941 ALG9 skos:exactMatch hgnc:ALG9 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:15672 semapv:UnspecifiedMatching +OMIM:606941 ALG9 skos:exactMatch hgnc.symbol:ALG9 semapv:UnspecifiedMatching OMIM:606941 ALG9 skos:exactMatch ncbigene:79796 semapv:UnspecifiedMatching -OMIM:606942 COPE skos:exactMatch hgnc:COPE semapv:UnspecifiedMatching +OMIM:606942 COPE skos:exactMatch hgnc.symbol:2234 semapv:UnspecifiedMatching +OMIM:606942 COPE skos:exactMatch hgnc.symbol:COPE semapv:UnspecifiedMatching OMIM:606942 COPE skos:exactMatch ncbigene:11316 semapv:UnspecifiedMatching -OMIM:606944 ERBIN skos:exactMatch hgnc:ERBIN semapv:UnspecifiedMatching +OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:15842 semapv:UnspecifiedMatching +OMIM:606944 ERBIN skos:exactMatch hgnc.symbol:ERBIN semapv:UnspecifiedMatching OMIM:606944 ERBIN skos:exactMatch ncbigene:55914 semapv:UnspecifiedMatching -OMIM:606945 LDLR skos:exactMatch hgnc:LDLR semapv:UnspecifiedMatching +OMIM:606945 LDLR skos:exactMatch hgnc.symbol:6547 semapv:UnspecifiedMatching +OMIM:606945 LDLR skos:exactMatch hgnc.symbol:LDLR semapv:UnspecifiedMatching OMIM:606945 LDLR skos:exactMatch ncbigene:3949 semapv:UnspecifiedMatching OMIM:606946 ANAPC2 skos:exactMatch UMLS:C1426586 semapv:UnspecifiedMatching -OMIM:606946 ANAPC2 skos:exactMatch hgnc:ANAPC2 semapv:UnspecifiedMatching +OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:19989 semapv:UnspecifiedMatching +OMIM:606946 ANAPC2 skos:exactMatch hgnc.symbol:ANAPC2 semapv:UnspecifiedMatching OMIM:606946 ANAPC2 skos:exactMatch ncbigene:29882 semapv:UnspecifiedMatching -OMIM:606947 ANAPC4 skos:exactMatch hgnc:ANAPC4 semapv:UnspecifiedMatching +OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:19990 semapv:UnspecifiedMatching +OMIM:606947 ANAPC4 skos:exactMatch hgnc.symbol:ANAPC4 semapv:UnspecifiedMatching OMIM:606947 ANAPC4 skos:exactMatch ncbigene:29945 semapv:UnspecifiedMatching -OMIM:606948 ANAPC5 skos:exactMatch hgnc:ANAPC5 semapv:UnspecifiedMatching +OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:15713 semapv:UnspecifiedMatching +OMIM:606948 ANAPC5 skos:exactMatch hgnc.symbol:ANAPC5 semapv:UnspecifiedMatching OMIM:606948 ANAPC5 skos:exactMatch ncbigene:51433 semapv:UnspecifiedMatching -OMIM:606949 ANAPC7 skos:exactMatch hgnc:ANAPC7 semapv:UnspecifiedMatching +OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:17380 semapv:UnspecifiedMatching +OMIM:606949 ANAPC7 skos:exactMatch hgnc.symbol:ANAPC7 semapv:UnspecifiedMatching OMIM:606949 ANAPC7 skos:exactMatch ncbigene:51434 semapv:UnspecifiedMatching -OMIM:606950 TRHDE skos:exactMatch hgnc:TRHDE semapv:UnspecifiedMatching +OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:30748 semapv:UnspecifiedMatching +OMIM:606950 TRHDE skos:exactMatch hgnc.symbol:TRHDE semapv:UnspecifiedMatching OMIM:606950 TRHDE skos:exactMatch ncbigene:29953 semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch UMLS:C1537399 semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch UMLS:C3888244 semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch UMLS:C4225427 semapv:UnspecifiedMatching -OMIM:606951 IFIH1 skos:exactMatch hgnc:IFIH1 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:18873 semapv:UnspecifiedMatching +OMIM:606951 IFIH1 skos:exactMatch hgnc.symbol:IFIH1 semapv:UnspecifiedMatching OMIM:606951 IFIH1 skos:exactMatch ncbigene:64135 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352731 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:352737 semapv:UnspecifiedMatching +OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch Orphanet:79434 semapv:UnspecifiedMatching OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch UMLS:C1847024 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch orphanet.ordo:352731 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch orphanet.ordo:352737 semapv:UnspecifiedMatching -OMIM:606952 albinism, oculocutaneous, iia 1b skos:exactMatch orphanet.ordo:79434 semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch UMLS:C0751161 semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch UMLS:C1439333 semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch UMLS:C4017048 semapv:UnspecifiedMatching -OMIM:606953 GALE skos:exactMatch hgnc:GALE semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch hgnc.symbol:4116 semapv:UnspecifiedMatching +OMIM:606953 GALE skos:exactMatch hgnc.symbol:GALE semapv:UnspecifiedMatching OMIM:606953 GALE skos:exactMatch ncbigene:2582 semapv:UnspecifiedMatching -OMIM:606954 ZNF253 skos:exactMatch hgnc:ZNF253 semapv:UnspecifiedMatching +OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:13497 semapv:UnspecifiedMatching +OMIM:606954 ZNF253 skos:exactMatch hgnc.symbol:ZNF253 semapv:UnspecifiedMatching OMIM:606954 ZNF253 skos:exactMatch ncbigene:56242 semapv:UnspecifiedMatching -OMIM:606956 ZNF256 skos:exactMatch hgnc:ZNF256 semapv:UnspecifiedMatching +OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:13049 semapv:UnspecifiedMatching +OMIM:606956 ZNF256 skos:exactMatch hgnc.symbol:ZNF256 semapv:UnspecifiedMatching OMIM:606956 ZNF256 skos:exactMatch ncbigene:10172 semapv:UnspecifiedMatching -OMIM:606957 ZNF257 skos:exactMatch hgnc:ZNF257 semapv:UnspecifiedMatching +OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:13498 semapv:UnspecifiedMatching +OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:ZNF257 semapv:UnspecifiedMatching OMIM:606957 ZNF257 skos:exactMatch ncbigene:113835 semapv:UnspecifiedMatching -OMIM:606958 MPP5 skos:exactMatch hgnc:PALS1 semapv:UnspecifiedMatching +OMIM:606958 MPP5 skos:exactMatch hgnc.symbol:18669 semapv:UnspecifiedMatching +OMIM:606958 MPP5 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching OMIM:606958 MPP5 skos:exactMatch ncbigene:64398 semapv:UnspecifiedMatching -OMIM:606959 MPP6 skos:exactMatch hgnc:PALS2 semapv:UnspecifiedMatching +OMIM:606959 MPP6 skos:exactMatch hgnc.symbol:18167 semapv:UnspecifiedMatching +OMIM:606959 MPP6 skos:exactMatch hgnc.symbol:PALS2 semapv:UnspecifiedMatching OMIM:606959 MPP6 skos:exactMatch ncbigene:51678 semapv:UnspecifiedMatching -OMIM:606961 WBP1 skos:exactMatch hgnc:WBP1 semapv:UnspecifiedMatching +OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:12737 semapv:UnspecifiedMatching +OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:WBP1 semapv:UnspecifiedMatching OMIM:606961 WBP1 skos:exactMatch ncbigene:23559 semapv:UnspecifiedMatching -OMIM:606962 WBP2 skos:exactMatch hgnc:WBP2 semapv:UnspecifiedMatching +OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:12738 semapv:UnspecifiedMatching +OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:WBP2 semapv:UnspecifiedMatching OMIM:606962 WBP2 skos:exactMatch ncbigene:23558 semapv:UnspecifiedMatching -OMIM:606964 STK38 skos:exactMatch hgnc:STK38 semapv:UnspecifiedMatching +OMIM:606964 STK38 skos:exactMatch hgnc.symbol:17847 semapv:UnspecifiedMatching +OMIM:606964 STK38 skos:exactMatch hgnc.symbol:STK38 semapv:UnspecifiedMatching OMIM:606964 STK38 skos:exactMatch ncbigene:11329 semapv:UnspecifiedMatching -OMIM:606965 FASTK skos:exactMatch hgnc:FASTK semapv:UnspecifiedMatching +OMIM:606965 FASTK skos:exactMatch hgnc.symbol:24676 semapv:UnspecifiedMatching +OMIM:606965 FASTK skos:exactMatch hgnc.symbol:FASTK semapv:UnspecifiedMatching OMIM:606965 FASTK skos:exactMatch ncbigene:10922 semapv:UnspecifiedMatching -OMIM:606967 LCAT skos:exactMatch hgnc:LCAT semapv:UnspecifiedMatching +OMIM:606967 LCAT skos:exactMatch hgnc.symbol:6522 semapv:UnspecifiedMatching +OMIM:606967 LCAT skos:exactMatch hgnc.symbol:LCAT semapv:UnspecifiedMatching OMIM:606967 LCAT skos:exactMatch ncbigene:3931 semapv:UnspecifiedMatching -OMIM:606968 EEF2K skos:exactMatch hgnc:EEF2K semapv:UnspecifiedMatching +OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:24615 semapv:UnspecifiedMatching +OMIM:606968 EEF2K skos:exactMatch hgnc.symbol:EEF2K semapv:UnspecifiedMatching OMIM:606968 EEF2K skos:exactMatch ncbigene:29904 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch UMLS:C1423680 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching -OMIM:606969 GEMIN4 skos:exactMatch hgnc:GEMIN4 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:15717 semapv:UnspecifiedMatching +OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:GEMIN4 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch ncbigene:50628 semapv:UnspecifiedMatching -OMIM:606973 COG1 skos:exactMatch hgnc:COG1 semapv:UnspecifiedMatching +OMIM:606973 COG1 skos:exactMatch hgnc.symbol:6545 semapv:UnspecifiedMatching +OMIM:606973 COG1 skos:exactMatch hgnc.symbol:COG1 semapv:UnspecifiedMatching OMIM:606973 COG1 skos:exactMatch ncbigene:9382 semapv:UnspecifiedMatching -OMIM:606974 COG2 skos:exactMatch hgnc:COG2 semapv:UnspecifiedMatching +OMIM:606974 COG2 skos:exactMatch hgnc.symbol:6546 semapv:UnspecifiedMatching +OMIM:606974 COG2 skos:exactMatch hgnc.symbol:COG2 semapv:UnspecifiedMatching OMIM:606974 COG2 skos:exactMatch ncbigene:22796 semapv:UnspecifiedMatching -OMIM:606975 COG3 skos:exactMatch hgnc:COG3 semapv:UnspecifiedMatching +OMIM:606975 COG3 skos:exactMatch hgnc.symbol:18619 semapv:UnspecifiedMatching +OMIM:606975 COG3 skos:exactMatch hgnc.symbol:COG3 semapv:UnspecifiedMatching OMIM:606975 COG3 skos:exactMatch ncbigene:83548 semapv:UnspecifiedMatching -OMIM:606976 COG4 skos:exactMatch hgnc:COG4 semapv:UnspecifiedMatching +OMIM:606976 COG4 skos:exactMatch hgnc.symbol:18620 semapv:UnspecifiedMatching +OMIM:606976 COG4 skos:exactMatch hgnc.symbol:COG4 semapv:UnspecifiedMatching OMIM:606976 COG4 skos:exactMatch ncbigene:25839 semapv:UnspecifiedMatching -OMIM:606977 COG6 skos:exactMatch hgnc:COG6 semapv:UnspecifiedMatching +OMIM:606977 COG6 skos:exactMatch hgnc.symbol:18621 semapv:UnspecifiedMatching +OMIM:606977 COG6 skos:exactMatch hgnc.symbol:COG6 semapv:UnspecifiedMatching OMIM:606977 COG6 skos:exactMatch ncbigene:57511 semapv:UnspecifiedMatching -OMIM:606978 COG7 skos:exactMatch hgnc:COG7 semapv:UnspecifiedMatching +OMIM:606978 COG7 skos:exactMatch hgnc.symbol:18622 semapv:UnspecifiedMatching +OMIM:606978 COG7 skos:exactMatch hgnc.symbol:COG7 semapv:UnspecifiedMatching OMIM:606978 COG7 skos:exactMatch ncbigene:91949 semapv:UnspecifiedMatching OMIM:606979 COG8 skos:exactMatch UMLS:C1425655 semapv:UnspecifiedMatching OMIM:606979 COG8 skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching -OMIM:606979 COG8 skos:exactMatch hgnc:COG8 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch hgnc.symbol:18623 semapv:UnspecifiedMatching +OMIM:606979 COG8 skos:exactMatch hgnc.symbol:COG8 semapv:UnspecifiedMatching OMIM:606979 COG8 skos:exactMatch ncbigene:84342 semapv:UnspecifiedMatching OMIM:606980 COQ8A skos:exactMatch UMLS:C1424564 semapv:UnspecifiedMatching OMIM:606980 COQ8A skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching -OMIM:606980 COQ8A skos:exactMatch hgnc:COQ8A semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:16812 semapv:UnspecifiedMatching +OMIM:606980 COQ8A skos:exactMatch hgnc.symbol:COQ8A semapv:UnspecifiedMatching OMIM:606980 COQ8A skos:exactMatch ncbigene:56997 semapv:UnspecifiedMatching -OMIM:606981 GNG2 skos:exactMatch hgnc:GNG2 semapv:UnspecifiedMatching +OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:4404 semapv:UnspecifiedMatching +OMIM:606981 GNG2 skos:exactMatch hgnc.symbol:GNG2 semapv:UnspecifiedMatching OMIM:606981 GNG2 skos:exactMatch ncbigene:54331 semapv:UnspecifiedMatching -OMIM:606982 GGPS1 skos:exactMatch hgnc:GGPS1 semapv:UnspecifiedMatching +OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:4249 semapv:UnspecifiedMatching +OMIM:606982 GGPS1 skos:exactMatch hgnc.symbol:GGPS1 semapv:UnspecifiedMatching OMIM:606982 GGPS1 skos:exactMatch ncbigene:9453 semapv:UnspecifiedMatching -OMIM:606983 DGAT2 skos:exactMatch hgnc:DGAT2 semapv:UnspecifiedMatching +OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:16940 semapv:UnspecifiedMatching +OMIM:606983 DGAT2 skos:exactMatch hgnc.symbol:DGAT2 semapv:UnspecifiedMatching OMIM:606983 DGAT2 skos:exactMatch ncbigene:84649 semapv:UnspecifiedMatching -OMIM:606985 ELP4 skos:exactMatch hgnc:ELP4 semapv:UnspecifiedMatching +OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:1171 semapv:UnspecifiedMatching +OMIM:606985 ELP4 skos:exactMatch hgnc.symbol:ELP4 semapv:UnspecifiedMatching OMIM:606985 ELP4 skos:exactMatch ncbigene:26610 semapv:UnspecifiedMatching -OMIM:606987 GRK7 skos:exactMatch hgnc:GRK7 semapv:UnspecifiedMatching +OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:17031 semapv:UnspecifiedMatching +OMIM:606987 GRK7 skos:exactMatch hgnc.symbol:GRK7 semapv:UnspecifiedMatching OMIM:606987 GRK7 skos:exactMatch ncbigene:131890 semapv:UnspecifiedMatching -OMIM:606988 CHP1 skos:exactMatch hgnc:CHP1 semapv:UnspecifiedMatching +OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:17433 semapv:UnspecifiedMatching +OMIM:606988 CHP1 skos:exactMatch hgnc.symbol:CHP1 semapv:UnspecifiedMatching OMIM:606988 CHP1 skos:exactMatch ncbigene:11261 semapv:UnspecifiedMatching OMIM:606989 MPO skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching OMIM:606989 MPO skos:exactMatch UMLS:C1417245 semapv:UnspecifiedMatching OMIM:606989 MPO skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching OMIM:606989 MPO skos:exactMatch UMLS:C1969821 semapv:UnspecifiedMatching -OMIM:606989 MPO skos:exactMatch hgnc:MPO semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch hgnc.symbol:7218 semapv:UnspecifiedMatching +OMIM:606989 MPO skos:exactMatch hgnc.symbol:MPO semapv:UnspecifiedMatching OMIM:606989 MPO skos:exactMatch ncbigene:4353 semapv:UnspecifiedMatching -OMIM:606990 COPB2 skos:exactMatch hgnc:COPB2 semapv:UnspecifiedMatching +OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:2232 semapv:UnspecifiedMatching +OMIM:606990 COPB2 skos:exactMatch hgnc.symbol:COPB2 semapv:UnspecifiedMatching OMIM:606990 COPB2 skos:exactMatch ncbigene:9276 semapv:UnspecifiedMatching -OMIM:606991 IP6K1 skos:exactMatch hgnc:IP6K1 semapv:UnspecifiedMatching +OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:18360 semapv:UnspecifiedMatching +OMIM:606991 IP6K1 skos:exactMatch hgnc.symbol:IP6K1 semapv:UnspecifiedMatching OMIM:606991 IP6K1 skos:exactMatch ncbigene:9807 semapv:UnspecifiedMatching -OMIM:606992 IP6K2 skos:exactMatch hgnc:IP6K2 semapv:UnspecifiedMatching +OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:17313 semapv:UnspecifiedMatching +OMIM:606992 IP6K2 skos:exactMatch hgnc.symbol:IP6K2 semapv:UnspecifiedMatching OMIM:606992 IP6K2 skos:exactMatch ncbigene:51447 semapv:UnspecifiedMatching -OMIM:606993 IP6K3 skos:exactMatch hgnc:IP6K3 semapv:UnspecifiedMatching +OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:17269 semapv:UnspecifiedMatching +OMIM:606993 IP6K3 skos:exactMatch hgnc.symbol:IP6K3 semapv:UnspecifiedMatching OMIM:606993 IP6K3 skos:exactMatch ncbigene:117283 semapv:UnspecifiedMatching -OMIM:606994 TNK2 skos:exactMatch hgnc:TNK2 semapv:UnspecifiedMatching +OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:19297 semapv:UnspecifiedMatching +OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:TNK2 semapv:UnspecifiedMatching OMIM:606994 TNK2 skos:exactMatch ncbigene:10188 semapv:UnspecifiedMatching -OMIM:606997 C1D skos:exactMatch hgnc:C1D semapv:UnspecifiedMatching +OMIM:606997 C1D skos:exactMatch hgnc.symbol:29911 semapv:UnspecifiedMatching +OMIM:606997 C1D skos:exactMatch hgnc.symbol:C1D semapv:UnspecifiedMatching OMIM:606997 C1D skos:exactMatch ncbigene:10438 semapv:UnspecifiedMatching -OMIM:606998 FLOT1 skos:exactMatch hgnc:FLOT1 semapv:UnspecifiedMatching +OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:3757 semapv:UnspecifiedMatching +OMIM:606998 FLOT1 skos:exactMatch hgnc.symbol:FLOT1 semapv:UnspecifiedMatching OMIM:606998 FLOT1 skos:exactMatch ncbigene:10211 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C1414962 semapv:UnspecifiedMatching @@ -22660,207 +31359,294 @@ OMIM:606999 GALT skos:exactMatch UMLS:C3278146 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C4017050 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C4017051 semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch UMLS:C4017052 semapv:UnspecifiedMatching -OMIM:606999 GALT skos:exactMatch hgnc:GALT semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch hgnc.symbol:4135 semapv:UnspecifiedMatching +OMIM:606999 GALT skos:exactMatch hgnc.symbol:GALT semapv:UnspecifiedMatching OMIM:606999 GALT skos:exactMatch ncbigene:2592 semapv:UnspecifiedMatching OMIM:607000 MED24 skos:exactMatch UMLS:C1427816 semapv:UnspecifiedMatching -OMIM:607000 MED24 skos:exactMatch hgnc:MED24 semapv:UnspecifiedMatching +OMIM:607000 MED24 skos:exactMatch hgnc.symbol:22963 semapv:UnspecifiedMatching +OMIM:607000 MED24 skos:exactMatch hgnc.symbol:MED24 semapv:UnspecifiedMatching OMIM:607000 MED24 skos:exactMatch ncbigene:9862 semapv:UnspecifiedMatching OMIM:607001 EHMT1 skos:exactMatch UMLS:C0795833 semapv:UnspecifiedMatching OMIM:607001 EHMT1 skos:exactMatch UMLS:C1539338 semapv:UnspecifiedMatching -OMIM:607001 EHMT1 skos:exactMatch hgnc:EHMT1 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:24650 semapv:UnspecifiedMatching +OMIM:607001 EHMT1 skos:exactMatch hgnc.symbol:EHMT1 semapv:UnspecifiedMatching OMIM:607001 EHMT1 skos:exactMatch ncbigene:79813 semapv:UnspecifiedMatching -OMIM:607002 PROK2 skos:exactMatch hgnc:PROK2 semapv:UnspecifiedMatching +OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:18455 semapv:UnspecifiedMatching +OMIM:607002 PROK2 skos:exactMatch hgnc.symbol:PROK2 semapv:UnspecifiedMatching OMIM:607002 PROK2 skos:exactMatch ncbigene:60675 semapv:UnspecifiedMatching -OMIM:607003 TSLP skos:exactMatch hgnc:TSLP semapv:UnspecifiedMatching +OMIM:607003 TSLP skos:exactMatch hgnc.symbol:30743 semapv:UnspecifiedMatching +OMIM:607003 TSLP skos:exactMatch hgnc.symbol:TSLP semapv:UnspecifiedMatching OMIM:607003 TSLP skos:exactMatch ncbigene:85480 semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch UMLS:C1426633 semapv:UnspecifiedMatching -OMIM:607005 GEMIN5 skos:exactMatch hgnc:GEMIN5 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:20043 semapv:UnspecifiedMatching +OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:GEMIN5 semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch ncbigene:25929 semapv:UnspecifiedMatching OMIM:607006 GEMIN6 skos:exactMatch UMLS:C1426634 semapv:UnspecifiedMatching -OMIM:607006 GEMIN6 skos:exactMatch hgnc:GEMIN6 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:20044 semapv:UnspecifiedMatching +OMIM:607006 GEMIN6 skos:exactMatch hgnc.symbol:GEMIN6 semapv:UnspecifiedMatching OMIM:607006 GEMIN6 skos:exactMatch ncbigene:79833 semapv:UnspecifiedMatching -OMIM:607007 SNAPIN skos:exactMatch hgnc:SNAPIN semapv:UnspecifiedMatching +OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:17145 semapv:UnspecifiedMatching +OMIM:607007 SNAPIN skos:exactMatch hgnc.symbol:SNAPIN semapv:UnspecifiedMatching OMIM:607007 SNAPIN skos:exactMatch ncbigene:23557 semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch UMLS:C0220710 semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch UMLS:C1412107 semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch UMLS:C4017054 semapv:UnspecifiedMatching -OMIM:607008 ACADM skos:exactMatch hgnc:ACADM semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch hgnc.symbol:89 semapv:UnspecifiedMatching +OMIM:607008 ACADM skos:exactMatch hgnc.symbol:ACADM semapv:UnspecifiedMatching OMIM:607008 ACADM skos:exactMatch ncbigene:34 semapv:UnspecifiedMatching -OMIM:607009 TRPM6 skos:exactMatch hgnc:TRPM6 semapv:UnspecifiedMatching +OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:17995 semapv:UnspecifiedMatching +OMIM:607009 TRPM6 skos:exactMatch hgnc.symbol:TRPM6 semapv:UnspecifiedMatching OMIM:607009 TRPM6 skos:exactMatch ncbigene:140803 semapv:UnspecifiedMatching OMIM:607010 DCP1A skos:exactMatch UMLS:C1539225 semapv:UnspecifiedMatching -OMIM:607010 DCP1A skos:exactMatch hgnc:DCP1A semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:18714 semapv:UnspecifiedMatching +OMIM:607010 DCP1A skos:exactMatch hgnc.symbol:DCP1A semapv:UnspecifiedMatching OMIM:607010 DCP1A skos:exactMatch ncbigene:55802 semapv:UnspecifiedMatching -OMIM:607011 USP17 skos:exactMatch hgnc:USP17L9P semapv:UnspecifiedMatching +OMIM:607011 USP17 skos:exactMatch hgnc.symbol:12615 semapv:UnspecifiedMatching +OMIM:607011 USP17 skos:exactMatch hgnc.symbol:USP17L9P semapv:UnspecifiedMatching OMIM:607011 USP17 skos:exactMatch ncbigene:391627 semapv:UnspecifiedMatching -OMIM:607012 BDP1 skos:exactMatch hgnc:BDP1 semapv:UnspecifiedMatching +OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:13652 semapv:UnspecifiedMatching +OMIM:607012 BDP1 skos:exactMatch hgnc.symbol:BDP1 semapv:UnspecifiedMatching OMIM:607012 BDP1 skos:exactMatch ncbigene:55814 semapv:UnspecifiedMatching -OMIM:607013 BRF2 skos:exactMatch hgnc:BRF2 semapv:UnspecifiedMatching +OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:17298 semapv:UnspecifiedMatching +OMIM:607013 BRF2 skos:exactMatch hgnc.symbol:BRF2 semapv:UnspecifiedMatching OMIM:607013 BRF2 skos:exactMatch ncbigene:55290 semapv:UnspecifiedMatching -OMIM:607018 ADGRL2 skos:exactMatch hgnc:ADGRL2 semapv:UnspecifiedMatching +OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:18582 semapv:UnspecifiedMatching +OMIM:607018 ADGRL2 skos:exactMatch hgnc.symbol:ADGRL2 semapv:UnspecifiedMatching OMIM:607018 ADGRL2 skos:exactMatch ncbigene:23266 semapv:UnspecifiedMatching -OMIM:607019 RASSF3 skos:exactMatch hgnc:RASSF3 semapv:UnspecifiedMatching +OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:14271 semapv:UnspecifiedMatching +OMIM:607019 RASSF3 skos:exactMatch hgnc.symbol:RASSF3 semapv:UnspecifiedMatching OMIM:607019 RASSF3 skos:exactMatch ncbigene:283349 semapv:UnspecifiedMatching -OMIM:607020 RASSF5 skos:exactMatch hgnc:RASSF5 semapv:UnspecifiedMatching +OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:17609 semapv:UnspecifiedMatching +OMIM:607020 RASSF5 skos:exactMatch hgnc.symbol:RASSF5 semapv:UnspecifiedMatching OMIM:607020 RASSF5 skos:exactMatch ncbigene:83593 semapv:UnspecifiedMatching -OMIM:607021 SEZ6L skos:exactMatch hgnc:SEZ6L semapv:UnspecifiedMatching +OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:10763 semapv:UnspecifiedMatching +OMIM:607021 SEZ6L skos:exactMatch hgnc.symbol:SEZ6L semapv:UnspecifiedMatching OMIM:607021 SEZ6L skos:exactMatch ncbigene:23544 semapv:UnspecifiedMatching -OMIM:607022 CTCFL skos:exactMatch hgnc:CTCFL semapv:UnspecifiedMatching +OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:16234 semapv:UnspecifiedMatching +OMIM:607022 CTCFL skos:exactMatch hgnc.symbol:CTCFL semapv:UnspecifiedMatching OMIM:607022 CTCFL skos:exactMatch ncbigene:140690 semapv:UnspecifiedMatching -OMIM:607023 PLK2 skos:exactMatch hgnc:PLK2 semapv:UnspecifiedMatching +OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:19699 semapv:UnspecifiedMatching +OMIM:607023 PLK2 skos:exactMatch hgnc.symbol:PLK2 semapv:UnspecifiedMatching OMIM:607023 PLK2 skos:exactMatch ncbigene:10769 semapv:UnspecifiedMatching OMIM:607024 DBR1 skos:exactMatch UMLS:C1423603 semapv:UnspecifiedMatching -OMIM:607024 DBR1 skos:exactMatch hgnc:DBR1 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:15594 semapv:UnspecifiedMatching +OMIM:607024 DBR1 skos:exactMatch hgnc.symbol:DBR1 semapv:UnspecifiedMatching OMIM:607024 DBR1 skos:exactMatch ncbigene:51163 semapv:UnspecifiedMatching -OMIM:607025 MELK skos:exactMatch hgnc:MELK semapv:UnspecifiedMatching +OMIM:607025 MELK skos:exactMatch hgnc.symbol:16870 semapv:UnspecifiedMatching +OMIM:607025 MELK skos:exactMatch hgnc.symbol:MELK semapv:UnspecifiedMatching OMIM:607025 MELK skos:exactMatch ncbigene:9833 semapv:UnspecifiedMatching -OMIM:607026 NAV2 skos:exactMatch hgnc:NAV2 semapv:UnspecifiedMatching +OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:15997 semapv:UnspecifiedMatching +OMIM:607026 NAV2 skos:exactMatch hgnc.symbol:NAV2 semapv:UnspecifiedMatching OMIM:607026 NAV2 skos:exactMatch ncbigene:89797 semapv:UnspecifiedMatching OMIM:607027 ATP6V1A skos:exactMatch UMLS:C1412672 semapv:UnspecifiedMatching OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching OMIM:607027 ATP6V1A skos:exactMatch UMLS:C4693934 semapv:UnspecifiedMatching -OMIM:607027 ATP6V1A skos:exactMatch hgnc:ATP6V1A semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:851 semapv:UnspecifiedMatching +OMIM:607027 ATP6V1A skos:exactMatch hgnc.symbol:ATP6V1A semapv:UnspecifiedMatching OMIM:607027 ATP6V1A skos:exactMatch ncbigene:523 semapv:UnspecifiedMatching -OMIM:607028 ATP6V0D1 skos:exactMatch hgnc:ATP6V0D1 semapv:UnspecifiedMatching +OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:13724 semapv:UnspecifiedMatching +OMIM:607028 ATP6V0D1 skos:exactMatch hgnc.symbol:ATP6V0D1 semapv:UnspecifiedMatching OMIM:607028 ATP6V0D1 skos:exactMatch ncbigene:9114 semapv:UnspecifiedMatching -OMIM:607029 VAMP5 skos:exactMatch hgnc:VAMP5 semapv:UnspecifiedMatching +OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:12646 semapv:UnspecifiedMatching +OMIM:607029 VAMP5 skos:exactMatch hgnc.symbol:VAMP5 semapv:UnspecifiedMatching OMIM:607029 VAMP5 skos:exactMatch ncbigene:10791 semapv:UnspecifiedMatching -OMIM:607030 GCA skos:exactMatch hgnc:GCA semapv:UnspecifiedMatching +OMIM:607030 GCA skos:exactMatch hgnc.symbol:15990 semapv:UnspecifiedMatching +OMIM:607030 GCA skos:exactMatch hgnc.symbol:GCA semapv:UnspecifiedMatching OMIM:607030 GCA skos:exactMatch ncbigene:25801 semapv:UnspecifiedMatching -OMIM:607031 LIAS skos:exactMatch hgnc:LIAS semapv:UnspecifiedMatching +OMIM:607031 LIAS skos:exactMatch hgnc.symbol:16429 semapv:UnspecifiedMatching +OMIM:607031 LIAS skos:exactMatch hgnc.symbol:LIAS semapv:UnspecifiedMatching OMIM:607031 LIAS skos:exactMatch ncbigene:11019 semapv:UnspecifiedMatching OMIM:607032 SMG1 skos:exactMatch UMLS:C1846919 semapv:UnspecifiedMatching -OMIM:607032 SMG1 skos:exactMatch hgnc:SMG1 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:30045 semapv:UnspecifiedMatching +OMIM:607032 SMG1 skos:exactMatch hgnc.symbol:SMG1 semapv:UnspecifiedMatching OMIM:607032 SMG1 skos:exactMatch ncbigene:23049 semapv:UnspecifiedMatching -OMIM:607033 TFB1M skos:exactMatch hgnc:TFB1M semapv:UnspecifiedMatching +OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:17037 semapv:UnspecifiedMatching +OMIM:607033 TFB1M skos:exactMatch hgnc.symbol:TFB1M semapv:UnspecifiedMatching OMIM:607033 TFB1M skos:exactMatch ncbigene:51106 semapv:UnspecifiedMatching -OMIM:607035 SUFU skos:exactMatch hgnc:SUFU semapv:UnspecifiedMatching +OMIM:607035 SUFU skos:exactMatch hgnc.symbol:16466 semapv:UnspecifiedMatching +OMIM:607035 SUFU skos:exactMatch hgnc.symbol:SUFU semapv:UnspecifiedMatching OMIM:607035 SUFU skos:exactMatch ncbigene:51684 semapv:UnspecifiedMatching -OMIM:607036 IVD skos:exactMatch hgnc:IVD semapv:UnspecifiedMatching +OMIM:607036 IVD skos:exactMatch hgnc.symbol:6186 semapv:UnspecifiedMatching +OMIM:607036 IVD skos:exactMatch hgnc.symbol:IVD semapv:UnspecifiedMatching OMIM:607036 IVD skos:exactMatch ncbigene:3712 semapv:UnspecifiedMatching -OMIM:607037 EHHADH skos:exactMatch hgnc:EHHADH semapv:UnspecifiedMatching +OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:3247 semapv:UnspecifiedMatching +OMIM:607037 EHHADH skos:exactMatch hgnc.symbol:EHHADH semapv:UnspecifiedMatching OMIM:607037 EHHADH skos:exactMatch ncbigene:1962 semapv:UnspecifiedMatching -OMIM:607038 OTOA skos:exactMatch hgnc:OTOA semapv:UnspecifiedMatching +OMIM:607038 OTOA skos:exactMatch hgnc.symbol:16378 semapv:UnspecifiedMatching +OMIM:607038 OTOA skos:exactMatch hgnc.symbol:OTOA semapv:UnspecifiedMatching OMIM:607038 OTOA skos:exactMatch ncbigene:146183 semapv:UnspecifiedMatching -OMIM:607040 ABCC11 skos:exactMatch hgnc:ABCC11 semapv:UnspecifiedMatching +OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:14639 semapv:UnspecifiedMatching +OMIM:607040 ABCC11 skos:exactMatch hgnc.symbol:ABCC11 semapv:UnspecifiedMatching OMIM:607040 ABCC11 skos:exactMatch ncbigene:85320 semapv:UnspecifiedMatching -OMIM:607041 ABCC12 skos:exactMatch hgnc:ABCC12 semapv:UnspecifiedMatching +OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:14640 semapv:UnspecifiedMatching +OMIM:607041 ABCC12 skos:exactMatch hgnc.symbol:ABCC12 semapv:UnspecifiedMatching OMIM:607041 ABCC12 skos:exactMatch ncbigene:94160 semapv:UnspecifiedMatching OMIM:607042 CLN3 skos:exactMatch UMLS:C0751383 semapv:UnspecifiedMatching OMIM:607042 CLN3 skos:exactMatch UMLS:C1413495 semapv:UnspecifiedMatching OMIM:607042 CLN3 skos:exactMatch UMLS:C4017059 semapv:UnspecifiedMatching -OMIM:607042 CLN3 skos:exactMatch hgnc:CLN3 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:2074 semapv:UnspecifiedMatching +OMIM:607042 CLN3 skos:exactMatch hgnc.symbol:CLN3 semapv:UnspecifiedMatching OMIM:607042 CLN3 skos:exactMatch ncbigene:1201 semapv:UnspecifiedMatching -OMIM:607043 TRAF3IP2 skos:exactMatch hgnc:TRAF3IP2 semapv:UnspecifiedMatching +OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:1343 semapv:UnspecifiedMatching +OMIM:607043 TRAF3IP2 skos:exactMatch hgnc.symbol:TRAF3IP2 semapv:UnspecifiedMatching OMIM:607043 TRAF3IP2 skos:exactMatch ncbigene:10758 semapv:UnspecifiedMatching -OMIM:607045 RMST skos:exactMatch hgnc:RMST semapv:UnspecifiedMatching +OMIM:607045 RMST skos:exactMatch hgnc.symbol:29893 semapv:UnspecifiedMatching +OMIM:607045 RMST skos:exactMatch hgnc.symbol:RMST semapv:UnspecifiedMatching OMIM:607045 RMST skos:exactMatch ncbigene:196475 semapv:UnspecifiedMatching OMIM:607046 TOMM22 skos:exactMatch UMLS:C1425230 semapv:UnspecifiedMatching -OMIM:607046 TOMM22 skos:exactMatch hgnc:TOMM22 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:18002 semapv:UnspecifiedMatching +OMIM:607046 TOMM22 skos:exactMatch hgnc.symbol:TOMM22 semapv:UnspecifiedMatching OMIM:607046 TOMM22 skos:exactMatch ncbigene:56993 semapv:UnspecifiedMatching -OMIM:607047 ATXN3 skos:exactMatch hgnc:ATXN3 semapv:UnspecifiedMatching +OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:7106 semapv:UnspecifiedMatching +OMIM:607047 ATXN3 skos:exactMatch hgnc.symbol:ATXN3 semapv:UnspecifiedMatching OMIM:607047 ATXN3 skos:exactMatch ncbigene:4287 semapv:UnspecifiedMatching -OMIM:607048 STARD3 skos:exactMatch hgnc:STARD3 semapv:UnspecifiedMatching +OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:17579 semapv:UnspecifiedMatching +OMIM:607048 STARD3 skos:exactMatch hgnc.symbol:STARD3 semapv:UnspecifiedMatching OMIM:607048 STARD3 skos:exactMatch ncbigene:10948 semapv:UnspecifiedMatching -OMIM:607049 STARD4 skos:exactMatch hgnc:STARD4 semapv:UnspecifiedMatching +OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:18058 semapv:UnspecifiedMatching +OMIM:607049 STARD4 skos:exactMatch hgnc.symbol:STARD4 semapv:UnspecifiedMatching OMIM:607049 STARD4 skos:exactMatch ncbigene:134429 semapv:UnspecifiedMatching -OMIM:607050 STARD5 skos:exactMatch hgnc:STARD5 semapv:UnspecifiedMatching +OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:18065 semapv:UnspecifiedMatching +OMIM:607050 STARD5 skos:exactMatch hgnc.symbol:STARD5 semapv:UnspecifiedMatching OMIM:607050 STARD5 skos:exactMatch ncbigene:80765 semapv:UnspecifiedMatching -OMIM:607051 STARD6 skos:exactMatch hgnc:STARD6 semapv:UnspecifiedMatching +OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:18066 semapv:UnspecifiedMatching +OMIM:607051 STARD6 skos:exactMatch hgnc.symbol:STARD6 semapv:UnspecifiedMatching OMIM:607051 STARD6 skos:exactMatch ncbigene:147323 semapv:UnspecifiedMatching -OMIM:607052 TUSC2 skos:exactMatch hgnc:TUSC2 semapv:UnspecifiedMatching +OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:17034 semapv:UnspecifiedMatching +OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:TUSC2 semapv:UnspecifiedMatching OMIM:607052 TUSC2 skos:exactMatch ncbigene:11334 semapv:UnspecifiedMatching -OMIM:607054 PHLDA3 skos:exactMatch hgnc:PHLDA3 semapv:UnspecifiedMatching +OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:8934 semapv:UnspecifiedMatching +OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:PHLDA3 semapv:UnspecifiedMatching OMIM:607054 PHLDA3 skos:exactMatch ncbigene:23612 semapv:UnspecifiedMatching -OMIM:607055 TFB2M skos:exactMatch hgnc:TFB2M semapv:UnspecifiedMatching +OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:18559 semapv:UnspecifiedMatching +OMIM:607055 TFB2M skos:exactMatch hgnc.symbol:TFB2M semapv:UnspecifiedMatching OMIM:607055 TFB2M skos:exactMatch ncbigene:64216 semapv:UnspecifiedMatching -OMIM:607056 IMPG2 skos:exactMatch hgnc:IMPG2 semapv:UnspecifiedMatching +OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:18362 semapv:UnspecifiedMatching +OMIM:607056 IMPG2 skos:exactMatch hgnc.symbol:IMPG2 semapv:UnspecifiedMatching OMIM:607056 IMPG2 skos:exactMatch ncbigene:50939 semapv:UnspecifiedMatching OMIM:607057 USP18 skos:exactMatch UMLS:C1421395 semapv:UnspecifiedMatching OMIM:607057 USP18 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching -OMIM:607057 USP18 skos:exactMatch hgnc:USP18 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch hgnc.symbol:12616 semapv:UnspecifiedMatching +OMIM:607057 USP18 skos:exactMatch hgnc.symbol:USP18 semapv:UnspecifiedMatching OMIM:607057 USP18 skos:exactMatch ncbigene:11274 semapv:UnspecifiedMatching -OMIM:607058 GJD2 skos:exactMatch hgnc:GJD2 semapv:UnspecifiedMatching +OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:19154 semapv:UnspecifiedMatching +OMIM:607058 GJD2 skos:exactMatch hgnc.symbol:GJD2 semapv:UnspecifiedMatching OMIM:607058 GJD2 skos:exactMatch ncbigene:57369 semapv:UnspecifiedMatching -OMIM:607059 SLC39A4 skos:exactMatch hgnc:SLC39A4 semapv:UnspecifiedMatching +OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:17129 semapv:UnspecifiedMatching +OMIM:607059 SLC39A4 skos:exactMatch hgnc.symbol:SLC39A4 semapv:UnspecifiedMatching OMIM:607059 SLC39A4 skos:exactMatch ncbigene:55630 semapv:UnspecifiedMatching -OMIM:607061 PTGES3 skos:exactMatch hgnc:PTGES3 semapv:UnspecifiedMatching +OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:16049 semapv:UnspecifiedMatching +OMIM:607061 PTGES3 skos:exactMatch hgnc.symbol:PTGES3 semapv:UnspecifiedMatching OMIM:607061 PTGES3 skos:exactMatch ncbigene:10728 semapv:UnspecifiedMatching -OMIM:607062 FKBP7 skos:exactMatch hgnc:FKBP7 semapv:UnspecifiedMatching +OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:3723 semapv:UnspecifiedMatching +OMIM:607062 FKBP7 skos:exactMatch hgnc.symbol:FKBP7 semapv:UnspecifiedMatching OMIM:607062 FKBP7 skos:exactMatch ncbigene:51661 semapv:UnspecifiedMatching -OMIM:607063 FKBP10 skos:exactMatch hgnc:FKBP10 semapv:UnspecifiedMatching +OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:18169 semapv:UnspecifiedMatching +OMIM:607063 FKBP10 skos:exactMatch hgnc.symbol:FKBP10 semapv:UnspecifiedMatching OMIM:607063 FKBP10 skos:exactMatch ncbigene:60681 semapv:UnspecifiedMatching -OMIM:607064 PCOLCE2 skos:exactMatch hgnc:PCOLCE2 semapv:UnspecifiedMatching +OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:8739 semapv:UnspecifiedMatching +OMIM:607064 PCOLCE2 skos:exactMatch hgnc.symbol:PCOLCE2 semapv:UnspecifiedMatching OMIM:607064 PCOLCE2 skos:exactMatch ncbigene:26577 semapv:UnspecifiedMatching -OMIM:607065 QPCT skos:exactMatch hgnc:QPCT semapv:UnspecifiedMatching +OMIM:607065 QPCT skos:exactMatch hgnc.symbol:9753 semapv:UnspecifiedMatching +OMIM:607065 QPCT skos:exactMatch hgnc.symbol:QPCT semapv:UnspecifiedMatching OMIM:607065 QPCT skos:exactMatch ncbigene:25797 semapv:UnspecifiedMatching -OMIM:607066 TRPV3 skos:exactMatch hgnc:TRPV3 semapv:UnspecifiedMatching +OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:18084 semapv:UnspecifiedMatching +OMIM:607066 TRPV3 skos:exactMatch hgnc.symbol:TRPV3 semapv:UnspecifiedMatching OMIM:607066 TRPV3 skos:exactMatch ncbigene:162514 semapv:UnspecifiedMatching -OMIM:607067 STH skos:exactMatch hgnc:STH semapv:UnspecifiedMatching +OMIM:607067 STH skos:exactMatch hgnc.symbol:18839 semapv:UnspecifiedMatching +OMIM:607067 STH skos:exactMatch hgnc.symbol:STH semapv:UnspecifiedMatching OMIM:607067 STH skos:exactMatch ncbigene:246744 semapv:UnspecifiedMatching -OMIM:607068 CYB561D2 skos:exactMatch hgnc:CYB561D2 semapv:UnspecifiedMatching +OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:30253 semapv:UnspecifiedMatching +OMIM:607068 CYB561D2 skos:exactMatch hgnc.symbol:CYB561D2 semapv:UnspecifiedMatching OMIM:607068 CYB561D2 skos:exactMatch ncbigene:11068 semapv:UnspecifiedMatching -OMIM:607069 TMEM115 skos:exactMatch hgnc:TMEM115 semapv:UnspecifiedMatching +OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:30055 semapv:UnspecifiedMatching +OMIM:607069 TMEM115 skos:exactMatch hgnc.symbol:TMEM115 semapv:UnspecifiedMatching OMIM:607069 TMEM115 skos:exactMatch ncbigene:11070 semapv:UnspecifiedMatching -OMIM:607070 ZMYND10 skos:exactMatch hgnc:ZMYND10 semapv:UnspecifiedMatching +OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:19412 semapv:UnspecifiedMatching +OMIM:607070 ZMYND10 skos:exactMatch hgnc.symbol:ZMYND10 semapv:UnspecifiedMatching OMIM:607070 ZMYND10 skos:exactMatch ncbigene:51364 semapv:UnspecifiedMatching -OMIM:607071 HYAL1 skos:exactMatch hgnc:HYAL1 semapv:UnspecifiedMatching +OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:5320 semapv:UnspecifiedMatching +OMIM:607071 HYAL1 skos:exactMatch hgnc.symbol:HYAL1 semapv:UnspecifiedMatching OMIM:607071 HYAL1 skos:exactMatch ncbigene:3373 semapv:UnspecifiedMatching -OMIM:607072 NPRL2 skos:exactMatch hgnc:NPRL2 semapv:UnspecifiedMatching +OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:24969 semapv:UnspecifiedMatching +OMIM:607072 NPRL2 skos:exactMatch hgnc.symbol:NPRL2 semapv:UnspecifiedMatching OMIM:607072 NPRL2 skos:exactMatch ncbigene:10641 semapv:UnspecifiedMatching OMIM:607073 NAA80 skos:exactMatch UMLS:C1538043 semapv:UnspecifiedMatching -OMIM:607073 NAA80 skos:exactMatch hgnc:NAA80 semapv:UnspecifiedMatching +OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:30252 semapv:UnspecifiedMatching +OMIM:607073 NAA80 skos:exactMatch hgnc.symbol:NAA80 semapv:UnspecifiedMatching OMIM:607073 NAA80 skos:exactMatch ncbigene:24142 semapv:UnspecifiedMatching -OMIM:607074 PRKD2 skos:exactMatch hgnc:PRKD2 semapv:UnspecifiedMatching +OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:17293 semapv:UnspecifiedMatching +OMIM:607074 PRKD2 skos:exactMatch hgnc.symbol:PRKD2 semapv:UnspecifiedMatching OMIM:607074 PRKD2 skos:exactMatch ncbigene:25865 semapv:UnspecifiedMatching -OMIM:607075 PDAP1 skos:exactMatch hgnc:PDAP1 semapv:UnspecifiedMatching +OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:14634 semapv:UnspecifiedMatching +OMIM:607075 PDAP1 skos:exactMatch hgnc.symbol:PDAP1 semapv:UnspecifiedMatching OMIM:607075 PDAP1 skos:exactMatch ncbigene:11333 semapv:UnspecifiedMatching -OMIM:607076 PI15 skos:exactMatch hgnc:PI15 semapv:UnspecifiedMatching +OMIM:607076 PI15 skos:exactMatch hgnc.symbol:8946 semapv:UnspecifiedMatching +OMIM:607076 PI15 skos:exactMatch hgnc.symbol:PI15 semapv:UnspecifiedMatching OMIM:607076 PI15 skos:exactMatch ncbigene:51050 semapv:UnspecifiedMatching -OMIM:607077 PRKCN skos:exactMatch hgnc:PRKD3 semapv:UnspecifiedMatching +OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:9408 semapv:UnspecifiedMatching +OMIM:607077 PRKCN skos:exactMatch hgnc.symbol:PRKD3 semapv:UnspecifiedMatching OMIM:607077 PRKCN skos:exactMatch ncbigene:23683 semapv:UnspecifiedMatching -OMIM:607079 RHBG skos:exactMatch hgnc:RHBG semapv:UnspecifiedMatching +OMIM:607079 RHBG skos:exactMatch hgnc.symbol:14572 semapv:UnspecifiedMatching +OMIM:607079 RHBG skos:exactMatch hgnc.symbol:RHBG semapv:UnspecifiedMatching OMIM:607079 RHBG skos:exactMatch ncbigene:57127 semapv:UnspecifiedMatching +OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch Orphanet:168563 semapv:UnspecifiedMatching OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch UMLS:C5436061 semapv:UnspecifiedMatching -OMIM:607080 46,xy gonadal dysgenesis with minifascicular neuropathy skos:exactMatch orphanet.ordo:168563 semapv:UnspecifiedMatching -OMIM:607081 TAPBPL skos:exactMatch hgnc:TAPBPL semapv:UnspecifiedMatching +OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:30683 semapv:UnspecifiedMatching +OMIM:607081 TAPBPL skos:exactMatch hgnc.symbol:TAPBPL semapv:UnspecifiedMatching OMIM:607081 TAPBPL skos:exactMatch ncbigene:55080 semapv:UnspecifiedMatching -OMIM:607082 CACNA2D2 skos:exactMatch hgnc:CACNA2D2 semapv:UnspecifiedMatching +OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:1400 semapv:UnspecifiedMatching +OMIM:607082 CACNA2D2 skos:exactMatch hgnc.symbol:CACNA2D2 semapv:UnspecifiedMatching OMIM:607082 CACNA2D2 skos:exactMatch ncbigene:9254 semapv:UnspecifiedMatching -OMIM:607083 NSD3 skos:exactMatch hgnc:NSD3 semapv:UnspecifiedMatching +OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:12767 semapv:UnspecifiedMatching +OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:NSD3 semapv:UnspecifiedMatching OMIM:607083 NSD3 skos:exactMatch ncbigene:54904 semapv:UnspecifiedMatching -OMIM:607089 CCNDBP1 skos:exactMatch hgnc:CCNDBP1 semapv:UnspecifiedMatching +OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:1587 semapv:UnspecifiedMatching +OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:CCNDBP1 semapv:UnspecifiedMatching OMIM:607089 CCNDBP1 skos:exactMatch ncbigene:23582 semapv:UnspecifiedMatching OMIM:607090 SYF2 skos:exactMatch UMLS:C1823161 semapv:UnspecifiedMatching -OMIM:607090 SYF2 skos:exactMatch hgnc:SYF2 semapv:UnspecifiedMatching +OMIM:607090 SYF2 skos:exactMatch hgnc.symbol:19824 semapv:UnspecifiedMatching +OMIM:607090 SYF2 skos:exactMatch hgnc.symbol:SYF2 semapv:UnspecifiedMatching OMIM:607090 SYF2 skos:exactMatch ncbigene:25949 semapv:UnspecifiedMatching -OMIM:607092 SPHK2 skos:exactMatch hgnc:SPHK2 semapv:UnspecifiedMatching +OMIM:607092 SPHK2 skos:exactMatch hgnc.symbol:18859 semapv:UnspecifiedMatching +OMIM:607092 SPHK2 skos:exactMatch hgnc.symbol:SPHK2 semapv:UnspecifiedMatching OMIM:607092 SPHK2 skos:exactMatch ncbigene:56848 semapv:UnspecifiedMatching -OMIM:607093 MTHFR skos:exactMatch hgnc:MTHFR semapv:UnspecifiedMatching +OMIM:607093 MTHFR skos:exactMatch hgnc.symbol:7436 semapv:UnspecifiedMatching +OMIM:607093 MTHFR skos:exactMatch hgnc.symbol:MTHFR semapv:UnspecifiedMatching OMIM:607093 MTHFR skos:exactMatch ncbigene:4524 semapv:UnspecifiedMatching -OMIM:607094 SOCS5 skos:exactMatch hgnc:SOCS5 semapv:UnspecifiedMatching +OMIM:607094 SOCS5 skos:exactMatch hgnc.symbol:16852 semapv:UnspecifiedMatching +OMIM:607094 SOCS5 skos:exactMatch hgnc.symbol:SOCS5 semapv:UnspecifiedMatching OMIM:607094 SOCS5 skos:exactMatch ncbigene:9655 semapv:UnspecifiedMatching +OMIM:607095 anauxetic dysplasia 1 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching OMIM:607095 anauxetic dysplasia 1 skos:exactMatch UMLS:C1846796 semapv:UnspecifiedMatching OMIM:607095 anauxetic dysplasia 1 skos:exactMatch UMLS:C4551965 semapv:UnspecifiedMatching -OMIM:607095 anauxetic dysplasia 1 skos:exactMatch orphanet.ordo:93347 semapv:UnspecifiedMatching -OMIM:607096 SLC22A12 skos:exactMatch hgnc:SLC22A12 semapv:UnspecifiedMatching +OMIM:607096 SLC22A12 skos:exactMatch hgnc.symbol:17989 semapv:UnspecifiedMatching +OMIM:607096 SLC22A12 skos:exactMatch hgnc.symbol:SLC22A12 semapv:UnspecifiedMatching OMIM:607096 SLC22A12 skos:exactMatch ncbigene:116085 semapv:UnspecifiedMatching -OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc:SLC22A11 semapv:UnspecifiedMatching +OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:18120 semapv:UnspecifiedMatching +OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch hgnc.symbol:SLC22A11 semapv:UnspecifiedMatching OMIM:607097 solute carrier family 22 (organic anion/cation transporter), member 11 skos:exactMatch ncbigene:55867 semapv:UnspecifiedMatching OMIM:607098 enolase alpha, lung-specific skos:exactMatch UMLS:C1846791 semapv:UnspecifiedMatching -OMIM:607099 HINFP skos:exactMatch hgnc:HINFP semapv:UnspecifiedMatching +OMIM:607099 HINFP skos:exactMatch hgnc.symbol:17850 semapv:UnspecifiedMatching +OMIM:607099 HINFP skos:exactMatch hgnc.symbol:HINFP semapv:UnspecifiedMatching OMIM:607099 HINFP skos:exactMatch ncbigene:25988 semapv:UnspecifiedMatching -OMIM:607100 NPHP1 skos:exactMatch hgnc:NPHP1 semapv:UnspecifiedMatching +OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:7905 semapv:UnspecifiedMatching +OMIM:607100 NPHP1 skos:exactMatch hgnc.symbol:NPHP1 semapv:UnspecifiedMatching OMIM:607100 NPHP1 skos:exactMatch ncbigene:4867 semapv:UnspecifiedMatching -OMIM:607102 WT1 skos:exactMatch hgnc:WT1 semapv:UnspecifiedMatching +OMIM:607102 WT1 skos:exactMatch hgnc.symbol:12796 semapv:UnspecifiedMatching +OMIM:607102 WT1 skos:exactMatch hgnc.symbol:WT1 semapv:UnspecifiedMatching OMIM:607102 WT1 skos:exactMatch ncbigene:7490 semapv:UnspecifiedMatching -OMIM:607103 ATE1 skos:exactMatch hgnc:ATE1 semapv:UnspecifiedMatching +OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:782 semapv:UnspecifiedMatching +OMIM:607103 ATE1 skos:exactMatch hgnc.symbol:ATE1 semapv:UnspecifiedMatching OMIM:607103 ATE1 skos:exactMatch ncbigene:11101 semapv:UnspecifiedMatching -OMIM:607104 TNKS1BP1 skos:exactMatch hgnc:TNKS1BP1 semapv:UnspecifiedMatching +OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:19081 semapv:UnspecifiedMatching +OMIM:607104 TNKS1BP1 skos:exactMatch hgnc.symbol:TNKS1BP1 semapv:UnspecifiedMatching OMIM:607104 TNKS1BP1 skos:exactMatch ncbigene:85456 semapv:UnspecifiedMatching -OMIM:607105 NOX3 skos:exactMatch hgnc:NOX3 semapv:UnspecifiedMatching +OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:7890 semapv:UnspecifiedMatching +OMIM:607105 NOX3 skos:exactMatch hgnc.symbol:NOX3 semapv:UnspecifiedMatching OMIM:607105 NOX3 skos:exactMatch ncbigene:50508 semapv:UnspecifiedMatching -OMIM:607106 HM13 skos:exactMatch hgnc:HM13 semapv:UnspecifiedMatching +OMIM:607106 HM13 skos:exactMatch hgnc.symbol:16435 semapv:UnspecifiedMatching +OMIM:607106 HM13 skos:exactMatch hgnc.symbol:HM13 semapv:UnspecifiedMatching OMIM:607106 HM13 skos:exactMatch ncbigene:81502 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching @@ -22878,644 +31664,907 @@ OMIM:607108 PAX6 skos:exactMatch UMLS:C4017070 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4017657 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4310841 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C4310884 semapv:UnspecifiedMatching -OMIM:607108 PAX6 skos:exactMatch hgnc:PAX6 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:8620 semapv:UnspecifiedMatching +OMIM:607108 PAX6 skos:exactMatch hgnc.symbol:PAX6 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch ncbigene:5080 semapv:UnspecifiedMatching OMIM:607109 APOBEC3A skos:exactMatch UMLS:C1424917 semapv:UnspecifiedMatching -OMIM:607109 APOBEC3A skos:exactMatch hgnc:APOBEC3A semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:17343 semapv:UnspecifiedMatching +OMIM:607109 APOBEC3A skos:exactMatch hgnc.symbol:APOBEC3A semapv:UnspecifiedMatching OMIM:607109 APOBEC3A skos:exactMatch ncbigene:200315 semapv:UnspecifiedMatching -OMIM:607110 APOBEC3B skos:exactMatch hgnc:APOBEC3B semapv:UnspecifiedMatching +OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:17352 semapv:UnspecifiedMatching +OMIM:607110 APOBEC3B skos:exactMatch hgnc.symbol:APOBEC3B semapv:UnspecifiedMatching OMIM:607110 APOBEC3B skos:exactMatch ncbigene:9582 semapv:UnspecifiedMatching -OMIM:607111 SPART skos:exactMatch hgnc:SPART semapv:UnspecifiedMatching +OMIM:607111 SPART skos:exactMatch hgnc.symbol:18514 semapv:UnspecifiedMatching +OMIM:607111 SPART skos:exactMatch hgnc.symbol:SPART semapv:UnspecifiedMatching OMIM:607111 SPART skos:exactMatch ncbigene:23111 semapv:UnspecifiedMatching -OMIM:607112 FBXO2 skos:exactMatch hgnc:FBXO2 semapv:UnspecifiedMatching +OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:13581 semapv:UnspecifiedMatching +OMIM:607112 FBXO2 skos:exactMatch hgnc.symbol:FBXO2 semapv:UnspecifiedMatching OMIM:607112 FBXO2 skos:exactMatch ncbigene:26232 semapv:UnspecifiedMatching -OMIM:607113 APOBEC3G skos:exactMatch hgnc:APOBEC3G semapv:UnspecifiedMatching +OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:17357 semapv:UnspecifiedMatching +OMIM:607113 APOBEC3G skos:exactMatch hgnc.symbol:APOBEC3G semapv:UnspecifiedMatching OMIM:607113 APOBEC3G skos:exactMatch ncbigene:60489 semapv:UnspecifiedMatching -OMIM:607114 ADAM33 skos:exactMatch hgnc:ADAM33 semapv:UnspecifiedMatching +OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:15478 semapv:UnspecifiedMatching +OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:ADAM33 semapv:UnspecifiedMatching OMIM:607114 ADAM33 skos:exactMatch ncbigene:80332 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch UMLS:C1417075 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching -OMIM:607117 MCPH1 skos:exactMatch hgnc:MCPH1 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:6954 semapv:UnspecifiedMatching +OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:MCPH1 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch ncbigene:79648 semapv:UnspecifiedMatching -OMIM:607118 MRPL3 skos:exactMatch hgnc:MRPL3 semapv:UnspecifiedMatching +OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:10379 semapv:UnspecifiedMatching +OMIM:607118 MRPL3 skos:exactMatch hgnc.symbol:MRPL3 semapv:UnspecifiedMatching OMIM:607118 MRPL3 skos:exactMatch ncbigene:11222 semapv:UnspecifiedMatching -OMIM:607119 RNF19A skos:exactMatch hgnc:RNF19A semapv:UnspecifiedMatching +OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:13432 semapv:UnspecifiedMatching +OMIM:607119 RNF19A skos:exactMatch hgnc.symbol:RNF19A semapv:UnspecifiedMatching OMIM:607119 RNF19A skos:exactMatch ncbigene:25897 semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch UMLS:C1423830 semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching -OMIM:607120 PLCB1 skos:exactMatch hgnc:PLCB1 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:15917 semapv:UnspecifiedMatching +OMIM:607120 PLCB1 skos:exactMatch hgnc.symbol:PLCB1 semapv:UnspecifiedMatching OMIM:607120 PLCB1 skos:exactMatch ncbigene:23236 semapv:UnspecifiedMatching -OMIM:607122 PROKR1 skos:exactMatch hgnc:PROKR1 semapv:UnspecifiedMatching +OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:4524 semapv:UnspecifiedMatching +OMIM:607122 PROKR1 skos:exactMatch hgnc.symbol:PROKR1 semapv:UnspecifiedMatching OMIM:607122 PROKR1 skos:exactMatch ncbigene:10887 semapv:UnspecifiedMatching -OMIM:607123 PROKR2 skos:exactMatch hgnc:PROKR2 semapv:UnspecifiedMatching +OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:15836 semapv:UnspecifiedMatching +OMIM:607123 PROKR2 skos:exactMatch hgnc.symbol:PROKR2 semapv:UnspecifiedMatching OMIM:607123 PROKR2 skos:exactMatch ncbigene:128674 semapv:UnspecifiedMatching -OMIM:607124 PLPP1 skos:exactMatch hgnc:PLPP1 semapv:UnspecifiedMatching +OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:9228 semapv:UnspecifiedMatching +OMIM:607124 PLPP1 skos:exactMatch hgnc.symbol:PLPP1 semapv:UnspecifiedMatching OMIM:607124 PLPP1 skos:exactMatch ncbigene:8611 semapv:UnspecifiedMatching -OMIM:607125 PLPP3 skos:exactMatch hgnc:PLPP3 semapv:UnspecifiedMatching +OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:9229 semapv:UnspecifiedMatching +OMIM:607125 PLPP3 skos:exactMatch hgnc.symbol:PLPP3 semapv:UnspecifiedMatching OMIM:607125 PLPP3 skos:exactMatch ncbigene:8613 semapv:UnspecifiedMatching -OMIM:607126 PLPP2 skos:exactMatch hgnc:PLPP2 semapv:UnspecifiedMatching +OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:9230 semapv:UnspecifiedMatching +OMIM:607126 PLPP2 skos:exactMatch hgnc.symbol:PLPP2 semapv:UnspecifiedMatching OMIM:607126 PLPP2 skos:exactMatch ncbigene:8612 semapv:UnspecifiedMatching -OMIM:607127 ERC1 skos:exactMatch hgnc:ERC1 semapv:UnspecifiedMatching +OMIM:607127 ERC1 skos:exactMatch hgnc.symbol:17072 semapv:UnspecifiedMatching +OMIM:607127 ERC1 skos:exactMatch hgnc.symbol:ERC1 semapv:UnspecifiedMatching OMIM:607127 ERC1 skos:exactMatch ncbigene:23085 semapv:UnspecifiedMatching -OMIM:607128 TNKS2 skos:exactMatch hgnc:TNKS2 semapv:UnspecifiedMatching +OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:15677 semapv:UnspecifiedMatching +OMIM:607128 TNKS2 skos:exactMatch hgnc.symbol:TNKS2 semapv:UnspecifiedMatching OMIM:607128 TNKS2 skos:exactMatch ncbigene:80351 semapv:UnspecifiedMatching -OMIM:607129 MICAL1 skos:exactMatch hgnc:MICAL1 semapv:UnspecifiedMatching +OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:20619 semapv:UnspecifiedMatching +OMIM:607129 MICAL1 skos:exactMatch hgnc.symbol:MICAL1 semapv:UnspecifiedMatching OMIM:607129 MICAL1 skos:exactMatch ncbigene:64780 semapv:UnspecifiedMatching -OMIM:607130 RPTOR skos:exactMatch hgnc:RPTOR semapv:UnspecifiedMatching +OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:30287 semapv:UnspecifiedMatching +OMIM:607130 RPTOR skos:exactMatch hgnc.symbol:RPTOR semapv:UnspecifiedMatching OMIM:607130 RPTOR skos:exactMatch ncbigene:57521 semapv:UnspecifiedMatching +OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch Orphanet:166024 semapv:UnspecifiedMatching OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching -OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch orphanet.ordo:166024 semapv:UnspecifiedMatching +OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching -OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch orphanet.ordo:98759 semapv:UnspecifiedMatching -OMIM:607137 HNRNPDL skos:exactMatch hgnc:HNRNPDL semapv:UnspecifiedMatching +OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:5037 semapv:UnspecifiedMatching +OMIM:607137 HNRNPDL skos:exactMatch hgnc.symbol:HNRNPDL semapv:UnspecifiedMatching OMIM:607137 HNRNPDL skos:exactMatch ncbigene:9987 semapv:UnspecifiedMatching -OMIM:607138 CREB3L4 skos:exactMatch hgnc:CREB3L4 semapv:UnspecifiedMatching +OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:18854 semapv:UnspecifiedMatching +OMIM:607138 CREB3L4 skos:exactMatch hgnc.symbol:CREB3L4 semapv:UnspecifiedMatching OMIM:607138 CREB3L4 skos:exactMatch ncbigene:148327 semapv:UnspecifiedMatching -OMIM:607139 FANCA skos:exactMatch hgnc:FANCA semapv:UnspecifiedMatching +OMIM:607139 FANCA skos:exactMatch hgnc.symbol:3582 semapv:UnspecifiedMatching +OMIM:607139 FANCA skos:exactMatch hgnc.symbol:FANCA semapv:UnspecifiedMatching OMIM:607139 FANCA skos:exactMatch ncbigene:2175 semapv:UnspecifiedMatching -OMIM:607141 GLIPR2 skos:exactMatch hgnc:GLIPR2 semapv:UnspecifiedMatching +OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:18007 semapv:UnspecifiedMatching +OMIM:607141 GLIPR2 skos:exactMatch hgnc.symbol:GLIPR2 semapv:UnspecifiedMatching OMIM:607141 GLIPR2 skos:exactMatch ncbigene:152007 semapv:UnspecifiedMatching +OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch Orphanet:79324 semapv:UnspecifiedMatching OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching -OMIM:607143 congenital disorder of glycosylation, iia ig skos:exactMatch orphanet.ordo:79324 semapv:UnspecifiedMatching OMIM:607144 ALG12 skos:exactMatch UMLS:C1426190 semapv:UnspecifiedMatching OMIM:607144 ALG12 skos:exactMatch UMLS:C2931001 semapv:UnspecifiedMatching -OMIM:607144 ALG12 skos:exactMatch hgnc:ALG12 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:19358 semapv:UnspecifiedMatching +OMIM:607144 ALG12 skos:exactMatch hgnc.symbol:ALG12 semapv:UnspecifiedMatching OMIM:607144 ALG12 skos:exactMatch ncbigene:79087 semapv:UnspecifiedMatching OMIM:607145 DTNBP1 skos:exactMatch UMLS:C1424906 semapv:UnspecifiedMatching OMIM:607145 DTNBP1 skos:exactMatch UMLS:C3279756 semapv:UnspecifiedMatching -OMIM:607145 DTNBP1 skos:exactMatch hgnc:DTNBP1 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:17328 semapv:UnspecifiedMatching +OMIM:607145 DTNBP1 skos:exactMatch hgnc.symbol:DTNBP1 semapv:UnspecifiedMatching OMIM:607145 DTNBP1 skos:exactMatch ncbigene:84062 semapv:UnspecifiedMatching -OMIM:607146 PDZD3 skos:exactMatch hgnc:NHERF4 semapv:UnspecifiedMatching +OMIM:607146 PDZD3 skos:exactMatch hgnc.symbol:NHERF4 semapv:UnspecifiedMatching OMIM:607146 PDZD3 skos:exactMatch ncbigene:79849 semapv:UnspecifiedMatching -OMIM:607147 NECTIN3 skos:exactMatch hgnc:NECTIN3 semapv:UnspecifiedMatching +OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:17664 semapv:UnspecifiedMatching +OMIM:607147 NECTIN3 skos:exactMatch hgnc.symbol:NECTIN3 semapv:UnspecifiedMatching OMIM:607147 NECTIN3 skos:exactMatch ncbigene:25945 semapv:UnspecifiedMatching OMIM:607149 REXO2 skos:exactMatch UMLS:C1846690 semapv:UnspecifiedMatching -OMIM:607149 REXO2 skos:exactMatch hgnc:REXO2 semapv:UnspecifiedMatching +OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:17851 semapv:UnspecifiedMatching +OMIM:607149 REXO2 skos:exactMatch hgnc.symbol:REXO2 semapv:UnspecifiedMatching OMIM:607149 REXO2 skos:exactMatch ncbigene:25996 semapv:UnspecifiedMatching -OMIM:607150 FEV skos:exactMatch hgnc:FEV semapv:UnspecifiedMatching +OMIM:607150 FEV skos:exactMatch hgnc.symbol:18562 semapv:UnspecifiedMatching +OMIM:607150 FEV skos:exactMatch hgnc.symbol:FEV semapv:UnspecifiedMatching OMIM:607150 FEV skos:exactMatch ncbigene:54738 semapv:UnspecifiedMatching +OMIM:607151 moyamoya disease 2 skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching OMIM:607151 moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching -OMIM:607151 moyamoya disease 2 skos:exactMatch orphanet.ordo:2573 semapv:UnspecifiedMatching -OMIM:607153 ITGB1BP1 skos:exactMatch hgnc:ITGB1BP1 semapv:UnspecifiedMatching +OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:23927 semapv:UnspecifiedMatching +OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:ITGB1BP1 semapv:UnspecifiedMatching OMIM:607153 ITGB1BP1 skos:exactMatch ncbigene:9270 semapv:UnspecifiedMatching +OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch Orphanet:34515 semapv:UnspecifiedMatching OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch UMLS:C1846672 semapv:UnspecifiedMatching -OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 skos:exactMatch orphanet.ordo:34515 semapv:UnspecifiedMatching -OMIM:607156 ST3GAL6 skos:exactMatch hgnc:ST3GAL6 semapv:UnspecifiedMatching +OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:18080 semapv:UnspecifiedMatching +OMIM:607156 ST3GAL6 skos:exactMatch hgnc.symbol:ST3GAL6 semapv:UnspecifiedMatching OMIM:607156 ST3GAL6 skos:exactMatch ncbigene:10402 semapv:UnspecifiedMatching -OMIM:607157 SIGLEC11 skos:exactMatch hgnc:SIGLEC11 semapv:UnspecifiedMatching +OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:15622 semapv:UnspecifiedMatching +OMIM:607157 SIGLEC11 skos:exactMatch hgnc.symbol:SIGLEC11 semapv:UnspecifiedMatching OMIM:607157 SIGLEC11 skos:exactMatch ncbigene:114132 semapv:UnspecifiedMatching -OMIM:607158 VENTX skos:exactMatch hgnc:VENTX semapv:UnspecifiedMatching +OMIM:607158 VENTX skos:exactMatch hgnc.symbol:13639 semapv:UnspecifiedMatching +OMIM:607158 VENTX skos:exactMatch hgnc.symbol:VENTX semapv:UnspecifiedMatching OMIM:607158 VENTX skos:exactMatch ncbigene:27287 semapv:UnspecifiedMatching OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C1823956 semapv:UnspecifiedMatching OMIM:607159 ZMIZ1 skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching -OMIM:607159 ZMIZ1 skos:exactMatch hgnc:ZMIZ1 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:16493 semapv:UnspecifiedMatching +OMIM:607159 ZMIZ1 skos:exactMatch hgnc.symbol:ZMIZ1 semapv:UnspecifiedMatching OMIM:607159 ZMIZ1 skos:exactMatch ncbigene:57178 semapv:UnspecifiedMatching -OMIM:607160 ATP6V1F skos:exactMatch hgnc:ATP6V1F semapv:UnspecifiedMatching +OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:16832 semapv:UnspecifiedMatching +OMIM:607160 ATP6V1F skos:exactMatch hgnc.symbol:ATP6V1F semapv:UnspecifiedMatching OMIM:607160 ATP6V1F skos:exactMatch ncbigene:9296 semapv:UnspecifiedMatching -OMIM:607162 ST8SIA5 skos:exactMatch hgnc:ST8SIA5 semapv:UnspecifiedMatching +OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:17827 semapv:UnspecifiedMatching +OMIM:607162 ST8SIA5 skos:exactMatch hgnc.symbol:ST8SIA5 semapv:UnspecifiedMatching OMIM:607162 ST8SIA5 skos:exactMatch ncbigene:29906 semapv:UnspecifiedMatching -OMIM:607163 LOXL3 skos:exactMatch hgnc:LOXL3 semapv:UnspecifiedMatching +OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:13869 semapv:UnspecifiedMatching +OMIM:607163 LOXL3 skos:exactMatch hgnc.symbol:LOXL3 semapv:UnspecifiedMatching OMIM:607163 LOXL3 skos:exactMatch ncbigene:84695 semapv:UnspecifiedMatching -OMIM:607164 LBX2 skos:exactMatch hgnc:LBX2 semapv:UnspecifiedMatching +OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:15525 semapv:UnspecifiedMatching +OMIM:607164 LBX2 skos:exactMatch hgnc.symbol:LBX2 semapv:UnspecifiedMatching OMIM:607164 LBX2 skos:exactMatch ncbigene:85474 semapv:UnspecifiedMatching -OMIM:607165 SERINC3 skos:exactMatch hgnc:SERINC3 semapv:UnspecifiedMatching +OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:11699 semapv:UnspecifiedMatching +OMIM:607165 SERINC3 skos:exactMatch hgnc.symbol:SERINC3 semapv:UnspecifiedMatching OMIM:607165 SERINC3 skos:exactMatch ncbigene:10955 semapv:UnspecifiedMatching -OMIM:607166 TSGA10 skos:exactMatch hgnc:TSGA10 semapv:UnspecifiedMatching +OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:14927 semapv:UnspecifiedMatching +OMIM:607166 TSGA10 skos:exactMatch hgnc.symbol:TSGA10 semapv:UnspecifiedMatching OMIM:607166 TSGA10 skos:exactMatch ncbigene:80705 semapv:UnspecifiedMatching -OMIM:607167 DYNLRB1 skos:exactMatch hgnc:DYNLRB1 semapv:UnspecifiedMatching +OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:15468 semapv:UnspecifiedMatching +OMIM:607167 DYNLRB1 skos:exactMatch hgnc.symbol:DYNLRB1 semapv:UnspecifiedMatching OMIM:607167 DYNLRB1 skos:exactMatch ncbigene:83658 semapv:UnspecifiedMatching -OMIM:607168 DYNLRB2 skos:exactMatch hgnc:DYNLRB2 semapv:UnspecifiedMatching +OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:15467 semapv:UnspecifiedMatching +OMIM:607168 DYNLRB2 skos:exactMatch hgnc.symbol:DYNLRB2 semapv:UnspecifiedMatching OMIM:607168 DYNLRB2 skos:exactMatch ncbigene:83657 semapv:UnspecifiedMatching -OMIM:607169 PRSS16 skos:exactMatch hgnc:PRSS16 semapv:UnspecifiedMatching +OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:9480 semapv:UnspecifiedMatching +OMIM:607169 PRSS16 skos:exactMatch hgnc.symbol:PRSS16 semapv:UnspecifiedMatching OMIM:607169 PRSS16 skos:exactMatch ncbigene:10279 semapv:UnspecifiedMatching -OMIM:607170 CRELD1 skos:exactMatch hgnc:CRELD1 semapv:UnspecifiedMatching +OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:14630 semapv:UnspecifiedMatching +OMIM:607170 CRELD1 skos:exactMatch hgnc.symbol:CRELD1 semapv:UnspecifiedMatching OMIM:607170 CRELD1 skos:exactMatch ncbigene:78987 semapv:UnspecifiedMatching -OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc:CRELD2 semapv:UnspecifiedMatching +OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:28150 semapv:UnspecifiedMatching +OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch hgnc.symbol:CRELD2 semapv:UnspecifiedMatching OMIM:607171 cysteine-rich protein with egf-like domains 2 skos:exactMatch ncbigene:79174 semapv:UnspecifiedMatching -OMIM:607172 STK11IP skos:exactMatch hgnc:STK11IP semapv:UnspecifiedMatching +OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:19184 semapv:UnspecifiedMatching +OMIM:607172 STK11IP skos:exactMatch hgnc.symbol:STK11IP semapv:UnspecifiedMatching OMIM:607172 STK11IP skos:exactMatch ncbigene:114790 semapv:UnspecifiedMatching -OMIM:607173 PSMD14 skos:exactMatch hgnc:PSMD14 semapv:UnspecifiedMatching +OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:16889 semapv:UnspecifiedMatching +OMIM:607173 PSMD14 skos:exactMatch hgnc.symbol:PSMD14 semapv:UnspecifiedMatching OMIM:607173 PSMD14 skos:exactMatch ncbigene:10213 semapv:UnspecifiedMatching -OMIM:607175 DUSP16 skos:exactMatch hgnc:DUSP16 semapv:UnspecifiedMatching +OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:17909 semapv:UnspecifiedMatching +OMIM:607175 DUSP16 skos:exactMatch hgnc.symbol:DUSP16 semapv:UnspecifiedMatching OMIM:607175 DUSP16 skos:exactMatch ncbigene:80824 semapv:UnspecifiedMatching -OMIM:607176 CALN1 skos:exactMatch hgnc:CALN1 semapv:UnspecifiedMatching +OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:13248 semapv:UnspecifiedMatching +OMIM:607176 CALN1 skos:exactMatch hgnc.symbol:CALN1 semapv:UnspecifiedMatching OMIM:607176 CALN1 skos:exactMatch ncbigene:83698 semapv:UnspecifiedMatching -OMIM:607177 IER5 skos:exactMatch hgnc:IER5 semapv:UnspecifiedMatching +OMIM:607177 IER5 skos:exactMatch hgnc.symbol:5393 semapv:UnspecifiedMatching +OMIM:607177 IER5 skos:exactMatch hgnc.symbol:IER5 semapv:UnspecifiedMatching OMIM:607177 IER5 skos:exactMatch ncbigene:51278 semapv:UnspecifiedMatching -OMIM:607178 PDZK1IP1 skos:exactMatch hgnc:PDZK1IP1 semapv:UnspecifiedMatching +OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:16887 semapv:UnspecifiedMatching +OMIM:607178 PDZK1IP1 skos:exactMatch hgnc.symbol:PDZK1IP1 semapv:UnspecifiedMatching OMIM:607178 PDZK1IP1 skos:exactMatch ncbigene:10158 semapv:UnspecifiedMatching -OMIM:607179 RBM12 skos:exactMatch hgnc:RBM12 semapv:UnspecifiedMatching +OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:9898 semapv:UnspecifiedMatching +OMIM:607179 RBM12 skos:exactMatch hgnc.symbol:RBM12 semapv:UnspecifiedMatching OMIM:607179 RBM12 skos:exactMatch ncbigene:10137 semapv:UnspecifiedMatching -OMIM:607180 LRRC2 skos:exactMatch hgnc:LRRC2 semapv:UnspecifiedMatching +OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:14676 semapv:UnspecifiedMatching +OMIM:607180 LRRC2 skos:exactMatch hgnc.symbol:LRRC2 semapv:UnspecifiedMatching OMIM:607180 LRRC2 skos:exactMatch ncbigene:79442 semapv:UnspecifiedMatching -OMIM:607181 RTP3 skos:exactMatch hgnc:RTP3 semapv:UnspecifiedMatching +OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:15572 semapv:UnspecifiedMatching +OMIM:607181 RTP3 skos:exactMatch hgnc.symbol:RTP3 semapv:UnspecifiedMatching OMIM:607181 RTP3 skos:exactMatch ncbigene:83597 semapv:UnspecifiedMatching -OMIM:607182 FYCO1 skos:exactMatch hgnc:FYCO1 semapv:UnspecifiedMatching +OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:14673 semapv:UnspecifiedMatching +OMIM:607182 FYCO1 skos:exactMatch hgnc.symbol:FYCO1 semapv:UnspecifiedMatching OMIM:607182 FYCO1 skos:exactMatch ncbigene:79443 semapv:UnspecifiedMatching -OMIM:607183 SEC24A skos:exactMatch hgnc:SEC24A semapv:UnspecifiedMatching +OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:10703 semapv:UnspecifiedMatching +OMIM:607183 SEC24A skos:exactMatch hgnc.symbol:SEC24A semapv:UnspecifiedMatching OMIM:607183 SEC24A skos:exactMatch ncbigene:10802 semapv:UnspecifiedMatching -OMIM:607184 SEC24B skos:exactMatch hgnc:SEC24B semapv:UnspecifiedMatching +OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:10704 semapv:UnspecifiedMatching +OMIM:607184 SEC24B skos:exactMatch hgnc.symbol:SEC24B semapv:UnspecifiedMatching OMIM:607184 SEC24B skos:exactMatch ncbigene:10427 semapv:UnspecifiedMatching OMIM:607185 SEC24C skos:exactMatch UMLS:C1419929 semapv:UnspecifiedMatching -OMIM:607185 SEC24C skos:exactMatch hgnc:SEC24C semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:10705 semapv:UnspecifiedMatching +OMIM:607185 SEC24C skos:exactMatch hgnc.symbol:SEC24C semapv:UnspecifiedMatching OMIM:607185 SEC24C skos:exactMatch ncbigene:9632 semapv:UnspecifiedMatching -OMIM:607186 SEC24D skos:exactMatch hgnc:SEC24D semapv:UnspecifiedMatching +OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:10706 semapv:UnspecifiedMatching +OMIM:607186 SEC24D skos:exactMatch hgnc.symbol:SEC24D semapv:UnspecifiedMatching OMIM:607186 SEC24D skos:exactMatch ncbigene:9871 semapv:UnspecifiedMatching -OMIM:607187 ST3GAL1 skos:exactMatch hgnc:ST3GAL1 semapv:UnspecifiedMatching +OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:10862 semapv:UnspecifiedMatching +OMIM:607187 ST3GAL1 skos:exactMatch hgnc.symbol:ST3GAL1 semapv:UnspecifiedMatching OMIM:607187 ST3GAL1 skos:exactMatch ncbigene:6482 semapv:UnspecifiedMatching -OMIM:607188 ST3GAL2 skos:exactMatch hgnc:ST3GAL2 semapv:UnspecifiedMatching +OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:10863 semapv:UnspecifiedMatching +OMIM:607188 ST3GAL2 skos:exactMatch hgnc.symbol:ST3GAL2 semapv:UnspecifiedMatching OMIM:607188 ST3GAL2 skos:exactMatch ncbigene:6483 semapv:UnspecifiedMatching -OMIM:607189 RGS8 skos:exactMatch hgnc:RGS8 semapv:UnspecifiedMatching +OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:16810 semapv:UnspecifiedMatching +OMIM:607189 RGS8 skos:exactMatch hgnc.symbol:RGS8 semapv:UnspecifiedMatching OMIM:607189 RGS8 skos:exactMatch ncbigene:85397 semapv:UnspecifiedMatching -OMIM:607190 RGS13 skos:exactMatch hgnc:RGS13 semapv:UnspecifiedMatching +OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:9995 semapv:UnspecifiedMatching +OMIM:607190 RGS13 skos:exactMatch hgnc.symbol:RGS13 semapv:UnspecifiedMatching OMIM:607190 RGS13 skos:exactMatch ncbigene:6003 semapv:UnspecifiedMatching -OMIM:607191 RGS17 skos:exactMatch hgnc:RGS17 semapv:UnspecifiedMatching +OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:14088 semapv:UnspecifiedMatching +OMIM:607191 RGS17 skos:exactMatch hgnc.symbol:RGS17 semapv:UnspecifiedMatching OMIM:607191 RGS17 skos:exactMatch ncbigene:26575 semapv:UnspecifiedMatching -OMIM:607192 RGS18 skos:exactMatch hgnc:RGS18 semapv:UnspecifiedMatching +OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:14261 semapv:UnspecifiedMatching +OMIM:607192 RGS18 skos:exactMatch hgnc.symbol:RGS18 semapv:UnspecifiedMatching OMIM:607192 RGS18 skos:exactMatch ncbigene:64407 semapv:UnspecifiedMatching -OMIM:607193 RGS20 skos:exactMatch hgnc:RGS20 semapv:UnspecifiedMatching +OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:14600 semapv:UnspecifiedMatching +OMIM:607193 RGS20 skos:exactMatch hgnc.symbol:RGS20 semapv:UnspecifiedMatching OMIM:607193 RGS20 skos:exactMatch ncbigene:8601 semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch UMLS:C1428235 semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching -OMIM:607194 PTF1A skos:exactMatch hgnc:PTF1A semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:23734 semapv:UnspecifiedMatching +OMIM:607194 PTF1A skos:exactMatch hgnc.symbol:PTF1A semapv:UnspecifiedMatching OMIM:607194 PTF1A skos:exactMatch ncbigene:256297 semapv:UnspecifiedMatching +OMIM:607196 microcephaly, amish iia skos:exactMatch Orphanet:99742 semapv:UnspecifiedMatching OMIM:607196 microcephaly, amish iia skos:exactMatch UMLS:C1846648 semapv:UnspecifiedMatching -OMIM:607196 microcephaly, amish iia skos:exactMatch orphanet.ordo:99742 semapv:UnspecifiedMatching -OMIM:607198 TDP1 skos:exactMatch hgnc:TDP1 semapv:UnspecifiedMatching +OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:18884 semapv:UnspecifiedMatching +OMIM:607198 TDP1 skos:exactMatch hgnc.symbol:TDP1 semapv:UnspecifiedMatching OMIM:607198 TDP1 skos:exactMatch ncbigene:55775 semapv:UnspecifiedMatching OMIM:607199 IRF6 skos:exactMatch UMLS:C0265259 semapv:UnspecifiedMatching OMIM:607199 IRF6 skos:exactMatch UMLS:C1416474 semapv:UnspecifiedMatching OMIM:607199 IRF6 skos:exactMatch UMLS:C4551864 semapv:UnspecifiedMatching -OMIM:607199 IRF6 skos:exactMatch hgnc:IRF6 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:6121 semapv:UnspecifiedMatching +OMIM:607199 IRF6 skos:exactMatch hgnc.symbol:IRF6 semapv:UnspecifiedMatching OMIM:607199 IRF6 skos:exactMatch ncbigene:3664 semapv:UnspecifiedMatching -OMIM:607201 HNRNPR skos:exactMatch hgnc:HNRNPR semapv:UnspecifiedMatching +OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:5047 semapv:UnspecifiedMatching +OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:HNRNPR semapv:UnspecifiedMatching OMIM:607201 HNRNPR skos:exactMatch ncbigene:10236 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch UMLS:C1425082 semapv:UnspecifiedMatching -OMIM:607203 SAV1 skos:exactMatch hgnc:SAV1 semapv:UnspecifiedMatching +OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:17795 semapv:UnspecifiedMatching +OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:SAV1 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch ncbigene:60485 semapv:UnspecifiedMatching -OMIM:607204 PUM1 skos:exactMatch hgnc:PUM1 semapv:UnspecifiedMatching +OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:14957 semapv:UnspecifiedMatching +OMIM:607204 PUM1 skos:exactMatch hgnc.symbol:PUM1 semapv:UnspecifiedMatching OMIM:607204 PUM1 skos:exactMatch ncbigene:9698 semapv:UnspecifiedMatching -OMIM:607205 PUM2 skos:exactMatch hgnc:PUM2 semapv:UnspecifiedMatching +OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:14958 semapv:UnspecifiedMatching +OMIM:607205 PUM2 skos:exactMatch hgnc.symbol:PUM2 semapv:UnspecifiedMatching OMIM:607205 PUM2 skos:exactMatch ncbigene:23369 semapv:UnspecifiedMatching -OMIM:607206 ALOXE3 skos:exactMatch hgnc:ALOXE3 semapv:UnspecifiedMatching +OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:13743 semapv:UnspecifiedMatching +OMIM:607206 ALOXE3 skos:exactMatch hgnc.symbol:ALOXE3 semapv:UnspecifiedMatching OMIM:607206 ALOXE3 skos:exactMatch ncbigene:59344 semapv:UnspecifiedMatching -OMIM:607207 STUB1 skos:exactMatch hgnc:STUB1 semapv:UnspecifiedMatching +OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:11427 semapv:UnspecifiedMatching +OMIM:607207 STUB1 skos:exactMatch hgnc.symbol:STUB1 semapv:UnspecifiedMatching OMIM:607207 STUB1 skos:exactMatch ncbigene:10273 semapv:UnspecifiedMatching +OMIM:607208 dravet syndrome skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching OMIM:607208 dravet syndrome skos:exactMatch UMLS:C0751122 semapv:UnspecifiedMatching -OMIM:607208 dravet syndrome skos:exactMatch orphanet.ordo:33069 semapv:UnspecifiedMatching OMIM:607209 CARD10 skos:exactMatch UMLS:C1424267 semapv:UnspecifiedMatching -OMIM:607209 CARD10 skos:exactMatch hgnc:CARD10 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:16422 semapv:UnspecifiedMatching +OMIM:607209 CARD10 skos:exactMatch hgnc.symbol:CARD10 semapv:UnspecifiedMatching OMIM:607209 CARD10 skos:exactMatch ncbigene:29775 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch UMLS:C1424244 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch UMLS:C4539957 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch UMLS:C4540578 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch UMLS:C4551967 semapv:UnspecifiedMatching -OMIM:607210 CARD11 skos:exactMatch hgnc:CARD11 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:16393 semapv:UnspecifiedMatching +OMIM:607210 CARD11 skos:exactMatch hgnc.symbol:CARD11 semapv:UnspecifiedMatching OMIM:607210 CARD11 skos:exactMatch ncbigene:84433 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C0032027 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C1424286 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C1864497 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch UMLS:C4017074 semapv:UnspecifiedMatching -OMIM:607211 CARD14 skos:exactMatch hgnc:CARD14 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:16446 semapv:UnspecifiedMatching +OMIM:607211 CARD14 skos:exactMatch hgnc.symbol:CARD14 semapv:UnspecifiedMatching OMIM:607211 CARD14 skos:exactMatch ncbigene:79092 semapv:UnspecifiedMatching -OMIM:607212 CARD9 skos:exactMatch hgnc:CARD9 semapv:UnspecifiedMatching +OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:16391 semapv:UnspecifiedMatching +OMIM:607212 CARD9 skos:exactMatch hgnc.symbol:CARD9 semapv:UnspecifiedMatching OMIM:607212 CARD9 skos:exactMatch ncbigene:64170 semapv:UnspecifiedMatching -OMIM:607213 ORC6 skos:exactMatch hgnc:ORC6 semapv:UnspecifiedMatching +OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:17151 semapv:UnspecifiedMatching +OMIM:607213 ORC6 skos:exactMatch hgnc.symbol:ORC6 semapv:UnspecifiedMatching OMIM:607213 ORC6 skos:exactMatch ncbigene:23594 semapv:UnspecifiedMatching -OMIM:607215 NPHP4 skos:exactMatch hgnc:NPHP4 semapv:UnspecifiedMatching +OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:19104 semapv:UnspecifiedMatching +OMIM:607215 NPHP4 skos:exactMatch hgnc.symbol:NPHP4 semapv:UnspecifiedMatching OMIM:607215 NPHP4 skos:exactMatch ncbigene:261734 semapv:UnspecifiedMatching OMIM:607216 SDK1 skos:exactMatch UMLS:C1426154 semapv:UnspecifiedMatching -OMIM:607216 SDK1 skos:exactMatch hgnc:SDK1 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:19307 semapv:UnspecifiedMatching +OMIM:607216 SDK1 skos:exactMatch hgnc.symbol:SDK1 semapv:UnspecifiedMatching OMIM:607216 SDK1 skos:exactMatch ncbigene:221935 semapv:UnspecifiedMatching OMIM:607217 SDK2 skos:exactMatch UMLS:C1426155 semapv:UnspecifiedMatching -OMIM:607217 SDK2 skos:exactMatch hgnc:SDK2 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:19308 semapv:UnspecifiedMatching +OMIM:607217 SDK2 skos:exactMatch hgnc.symbol:SDK2 semapv:UnspecifiedMatching OMIM:607217 SDK2 skos:exactMatch ncbigene:54549 semapv:UnspecifiedMatching -OMIM:607218 IRF5 skos:exactMatch hgnc:IRF5 semapv:UnspecifiedMatching +OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:6120 semapv:UnspecifiedMatching +OMIM:607218 IRF5 skos:exactMatch hgnc.symbol:IRF5 semapv:UnspecifiedMatching OMIM:607218 IRF5 skos:exactMatch ncbigene:3663 semapv:UnspecifiedMatching -OMIM:607219 CNTN5 skos:exactMatch hgnc:CNTN5 semapv:UnspecifiedMatching +OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:2175 semapv:UnspecifiedMatching +OMIM:607219 CNTN5 skos:exactMatch hgnc.symbol:CNTN5 semapv:UnspecifiedMatching OMIM:607219 CNTN5 skos:exactMatch ncbigene:53942 semapv:UnspecifiedMatching -OMIM:607220 CNTN6 skos:exactMatch hgnc:CNTN6 semapv:UnspecifiedMatching +OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:2176 semapv:UnspecifiedMatching +OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:CNTN6 semapv:UnspecifiedMatching OMIM:607220 CNTN6 skos:exactMatch ncbigene:27255 semapv:UnspecifiedMatching -OMIM:607222 FBXO18 skos:exactMatch hgnc:FBH1 semapv:UnspecifiedMatching +OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:13620 semapv:UnspecifiedMatching +OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:FBH1 semapv:UnspecifiedMatching OMIM:607222 FBXO18 skos:exactMatch ncbigene:84893 semapv:UnspecifiedMatching -OMIM:607223 SMOC2 skos:exactMatch hgnc:SMOC2 semapv:UnspecifiedMatching +OMIM:607223 SMOC2 skos:exactMatch hgnc.symbol:20323 semapv:UnspecifiedMatching +OMIM:607223 SMOC2 skos:exactMatch hgnc.symbol:SMOC2 semapv:UnspecifiedMatching OMIM:607223 SMOC2 skos:exactMatch ncbigene:64094 semapv:UnspecifiedMatching -OMIM:607224 ORAOV1 skos:exactMatch hgnc:LTO1 semapv:UnspecifiedMatching +OMIM:607224 ORAOV1 skos:exactMatch hgnc.symbol:17589 semapv:UnspecifiedMatching +OMIM:607224 ORAOV1 skos:exactMatch hgnc.symbol:LTO1 semapv:UnspecifiedMatching OMIM:607224 ORAOV1 skos:exactMatch ncbigene:220064 semapv:UnspecifiedMatching +OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch Orphanet:293168 semapv:UnspecifiedMatching OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch UMLS:C2931441 semapv:UnspecifiedMatching -OMIM:607225 spastic paralysis, infantile-onset ascending skos:exactMatch orphanet.ordo:293168 semapv:UnspecifiedMatching OMIM:607226 HDAC11 skos:exactMatch UMLS:C1426002 semapv:UnspecifiedMatching -OMIM:607226 HDAC11 skos:exactMatch hgnc:HDAC11 semapv:UnspecifiedMatching +OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:19086 semapv:UnspecifiedMatching +OMIM:607226 HDAC11 skos:exactMatch hgnc.symbol:HDAC11 semapv:UnspecifiedMatching OMIM:607226 HDAC11 skos:exactMatch ncbigene:79885 semapv:UnspecifiedMatching -OMIM:607227 MRGPRX1 skos:exactMatch hgnc:MRGPRX1 semapv:UnspecifiedMatching +OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:17962 semapv:UnspecifiedMatching +OMIM:607227 MRGPRX1 skos:exactMatch hgnc.symbol:MRGPRX1 semapv:UnspecifiedMatching OMIM:607227 MRGPRX1 skos:exactMatch ncbigene:259249 semapv:UnspecifiedMatching -OMIM:607228 MRGPRX2 skos:exactMatch hgnc:MRGPRX2 semapv:UnspecifiedMatching +OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:17983 semapv:UnspecifiedMatching +OMIM:607228 MRGPRX2 skos:exactMatch hgnc.symbol:MRGPRX2 semapv:UnspecifiedMatching OMIM:607228 MRGPRX2 skos:exactMatch ncbigene:117194 semapv:UnspecifiedMatching -OMIM:607229 MRGPRX3 skos:exactMatch hgnc:MRGPRX3 semapv:UnspecifiedMatching +OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:17980 semapv:UnspecifiedMatching +OMIM:607229 MRGPRX3 skos:exactMatch hgnc.symbol:MRGPRX3 semapv:UnspecifiedMatching OMIM:607229 MRGPRX3 skos:exactMatch ncbigene:117195 semapv:UnspecifiedMatching -OMIM:607230 MRGPRX4 skos:exactMatch hgnc:MRGPRX4 semapv:UnspecifiedMatching +OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:17617 semapv:UnspecifiedMatching +OMIM:607230 MRGPRX4 skos:exactMatch hgnc.symbol:MRGPRX4 semapv:UnspecifiedMatching OMIM:607230 MRGPRX4 skos:exactMatch ncbigene:117196 semapv:UnspecifiedMatching -OMIM:607231 MRGPRD skos:exactMatch hgnc:MRGPRD semapv:UnspecifiedMatching +OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:29626 semapv:UnspecifiedMatching +OMIM:607231 MRGPRD skos:exactMatch hgnc.symbol:MRGPRD semapv:UnspecifiedMatching OMIM:607231 MRGPRD skos:exactMatch ncbigene:116512 semapv:UnspecifiedMatching -OMIM:607232 MRGPRE skos:exactMatch hgnc:MRGPRE semapv:UnspecifiedMatching +OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:30694 semapv:UnspecifiedMatching +OMIM:607232 MRGPRE skos:exactMatch hgnc.symbol:MRGPRE semapv:UnspecifiedMatching OMIM:607232 MRGPRE skos:exactMatch ncbigene:116534 semapv:UnspecifiedMatching -OMIM:607233 MRGPRF skos:exactMatch hgnc:MRGPRF semapv:UnspecifiedMatching +OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:24828 semapv:UnspecifiedMatching +OMIM:607233 MRGPRF skos:exactMatch hgnc.symbol:MRGPRF semapv:UnspecifiedMatching OMIM:607233 MRGPRF skos:exactMatch ncbigene:116535 semapv:UnspecifiedMatching -OMIM:607234 MRGPRG skos:exactMatch hgnc:MRGPRG semapv:UnspecifiedMatching +OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:24829 semapv:UnspecifiedMatching +OMIM:607234 MRGPRG skos:exactMatch hgnc.symbol:MRGPRG semapv:UnspecifiedMatching OMIM:607234 MRGPRG skos:exactMatch ncbigene:386746 semapv:UnspecifiedMatching -OMIM:607235 MAS1L skos:exactMatch hgnc:MAS1L semapv:UnspecifiedMatching +OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:13961 semapv:UnspecifiedMatching +OMIM:607235 MAS1L skos:exactMatch hgnc.symbol:MAS1L semapv:UnspecifiedMatching OMIM:607235 MAS1L skos:exactMatch ncbigene:116511 semapv:UnspecifiedMatching +OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch Orphanet:157855 semapv:UnspecifiedMatching OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch UMLS:C1846582 semapv:UnspecifiedMatching -OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch orphanet.ordo:157855 semapv:UnspecifiedMatching -OMIM:607237 TMIE skos:exactMatch hgnc:TMIE semapv:UnspecifiedMatching +OMIM:607237 TMIE skos:exactMatch hgnc.symbol:30800 semapv:UnspecifiedMatching +OMIM:607237 TMIE skos:exactMatch hgnc.symbol:TMIE semapv:UnspecifiedMatching OMIM:607237 TMIE skos:exactMatch ncbigene:259236 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch UMLS:C1427858 semapv:UnspecifiedMatching -OMIM:607238 COMMD1 skos:exactMatch hgnc:COMMD1 semapv:UnspecifiedMatching +OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:23024 semapv:UnspecifiedMatching +OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:COMMD1 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch ncbigene:150684 semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch UMLS:C1822692 semapv:UnspecifiedMatching -OMIM:607240 KMT5A skos:exactMatch hgnc:KMT5A semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:29489 semapv:UnspecifiedMatching +OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:KMT5A semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch ncbigene:387893 semapv:UnspecifiedMatching -OMIM:607241 FDCSP skos:exactMatch hgnc:FDCSP semapv:UnspecifiedMatching +OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:19215 semapv:UnspecifiedMatching +OMIM:607241 FDCSP skos:exactMatch hgnc.symbol:FDCSP semapv:UnspecifiedMatching OMIM:607241 FDCSP skos:exactMatch ncbigene:260436 semapv:UnspecifiedMatching -OMIM:607242 AP2A2 skos:exactMatch hgnc:AP2A2 semapv:UnspecifiedMatching +OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:562 semapv:UnspecifiedMatching +OMIM:607242 AP2A2 skos:exactMatch hgnc.symbol:AP2A2 semapv:UnspecifiedMatching OMIM:607242 AP2A2 skos:exactMatch ncbigene:161 semapv:UnspecifiedMatching -OMIM:607243 AP4S1 skos:exactMatch hgnc:AP4S1 semapv:UnspecifiedMatching +OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:575 semapv:UnspecifiedMatching +OMIM:607243 AP4S1 skos:exactMatch hgnc.symbol:AP4S1 semapv:UnspecifiedMatching OMIM:607243 AP4S1 skos:exactMatch ncbigene:11154 semapv:UnspecifiedMatching -OMIM:607244 AP4E1 skos:exactMatch hgnc:AP4E1 semapv:UnspecifiedMatching +OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:573 semapv:UnspecifiedMatching +OMIM:607244 AP4E1 skos:exactMatch hgnc.symbol:AP4E1 semapv:UnspecifiedMatching OMIM:607244 AP4E1 skos:exactMatch ncbigene:23431 semapv:UnspecifiedMatching -OMIM:607245 AP4B1 skos:exactMatch hgnc:AP4B1 semapv:UnspecifiedMatching +OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:572 semapv:UnspecifiedMatching +OMIM:607245 AP4B1 skos:exactMatch hgnc.symbol:AP4B1 semapv:UnspecifiedMatching OMIM:607245 AP4B1 skos:exactMatch ncbigene:10717 semapv:UnspecifiedMatching -OMIM:607246 AP3D1 skos:exactMatch hgnc:AP3D1 semapv:UnspecifiedMatching +OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:568 semapv:UnspecifiedMatching +OMIM:607246 AP3D1 skos:exactMatch hgnc.symbol:AP3D1 semapv:UnspecifiedMatching OMIM:607246 AP3D1 skos:exactMatch ncbigene:8943 semapv:UnspecifiedMatching -OMIM:607247 CHODL skos:exactMatch hgnc:CHODL semapv:UnspecifiedMatching +OMIM:607247 CHODL skos:exactMatch hgnc.symbol:17807 semapv:UnspecifiedMatching +OMIM:607247 CHODL skos:exactMatch hgnc.symbol:CHODL semapv:UnspecifiedMatching OMIM:607247 CHODL skos:exactMatch ncbigene:140578 semapv:UnspecifiedMatching -OMIM:607249 CATSPER2 skos:exactMatch hgnc:CATSPER2 semapv:UnspecifiedMatching +OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:18810 semapv:UnspecifiedMatching +OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:CATSPER2 semapv:UnspecifiedMatching OMIM:607249 CATSPER2 skos:exactMatch ncbigene:117155 semapv:UnspecifiedMatching OMIM:607251 TIMM22 skos:exactMatch UMLS:C1424897 semapv:UnspecifiedMatching OMIM:607251 TIMM22 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching -OMIM:607251 TIMM22 skos:exactMatch hgnc:TIMM22 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:17317 semapv:UnspecifiedMatching +OMIM:607251 TIMM22 skos:exactMatch hgnc.symbol:TIMM22 semapv:UnspecifiedMatching OMIM:607251 TIMM22 skos:exactMatch ncbigene:29928 semapv:UnspecifiedMatching -OMIM:607252 APOL2 skos:exactMatch hgnc:APOL2 semapv:UnspecifiedMatching +OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:619 semapv:UnspecifiedMatching +OMIM:607252 APOL2 skos:exactMatch hgnc.symbol:APOL2 semapv:UnspecifiedMatching OMIM:607252 APOL2 skos:exactMatch ncbigene:23780 semapv:UnspecifiedMatching -OMIM:607253 APOL3 skos:exactMatch hgnc:APOL3 semapv:UnspecifiedMatching +OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:14868 semapv:UnspecifiedMatching +OMIM:607253 APOL3 skos:exactMatch hgnc.symbol:APOL3 semapv:UnspecifiedMatching OMIM:607253 APOL3 skos:exactMatch ncbigene:80833 semapv:UnspecifiedMatching -OMIM:607254 APOL4 skos:exactMatch hgnc:APOL4 semapv:UnspecifiedMatching +OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:14867 semapv:UnspecifiedMatching +OMIM:607254 APOL4 skos:exactMatch hgnc.symbol:APOL4 semapv:UnspecifiedMatching OMIM:607254 APOL4 skos:exactMatch ncbigene:80832 semapv:UnspecifiedMatching -OMIM:607255 APOL5 skos:exactMatch hgnc:APOL5 semapv:UnspecifiedMatching +OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:14869 semapv:UnspecifiedMatching +OMIM:607255 APOL5 skos:exactMatch hgnc.symbol:APOL5 semapv:UnspecifiedMatching OMIM:607255 APOL5 skos:exactMatch ncbigene:80831 semapv:UnspecifiedMatching -OMIM:607256 APOL6 skos:exactMatch hgnc:APOL6 semapv:UnspecifiedMatching +OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:14870 semapv:UnspecifiedMatching +OMIM:607256 APOL6 skos:exactMatch hgnc.symbol:APOL6 semapv:UnspecifiedMatching OMIM:607256 APOL6 skos:exactMatch ncbigene:80830 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch UMLS:C1424266 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching -OMIM:607257 SOX6 skos:exactMatch hgnc:SOX6 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:16421 semapv:UnspecifiedMatching +OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:SOX6 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch ncbigene:55553 semapv:UnspecifiedMatching -OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc:LGALS14 semapv:UnspecifiedMatching +OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:30054 semapv:UnspecifiedMatching +OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:LGALS14 semapv:UnspecifiedMatching OMIM:607260 placental protein 13-like protein skos:exactMatch ncbigene:56891 semapv:UnspecifiedMatching -OMIM:607261 EVC2 skos:exactMatch hgnc:EVC2 semapv:UnspecifiedMatching +OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:19747 semapv:UnspecifiedMatching +OMIM:607261 EVC2 skos:exactMatch hgnc.symbol:EVC2 semapv:UnspecifiedMatching OMIM:607261 EVC2 skos:exactMatch ncbigene:132884 semapv:UnspecifiedMatching -OMIM:607262 EPN1 skos:exactMatch hgnc:EPN1 semapv:UnspecifiedMatching +OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:21604 semapv:UnspecifiedMatching +OMIM:607262 EPN1 skos:exactMatch hgnc.symbol:EPN1 semapv:UnspecifiedMatching OMIM:607262 EPN1 skos:exactMatch ncbigene:29924 semapv:UnspecifiedMatching -OMIM:607263 EPN2 skos:exactMatch hgnc:EPN2 semapv:UnspecifiedMatching +OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:18639 semapv:UnspecifiedMatching +OMIM:607263 EPN2 skos:exactMatch hgnc.symbol:EPN2 semapv:UnspecifiedMatching OMIM:607263 EPN2 skos:exactMatch ncbigene:22905 semapv:UnspecifiedMatching -OMIM:607264 EPN3 skos:exactMatch hgnc:EPN3 semapv:UnspecifiedMatching +OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:18235 semapv:UnspecifiedMatching +OMIM:607264 EPN3 skos:exactMatch hgnc.symbol:EPN3 semapv:UnspecifiedMatching OMIM:607264 EPN3 skos:exactMatch ncbigene:55040 semapv:UnspecifiedMatching -OMIM:607265 CLINT1 skos:exactMatch hgnc:CLINT1 semapv:UnspecifiedMatching +OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:23186 semapv:UnspecifiedMatching +OMIM:607265 CLINT1 skos:exactMatch hgnc.symbol:CLINT1 semapv:UnspecifiedMatching OMIM:607265 CLINT1 skos:exactMatch ncbigene:9685 semapv:UnspecifiedMatching -OMIM:607267 POLE3 skos:exactMatch hgnc:POLE3 semapv:UnspecifiedMatching +OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:13546 semapv:UnspecifiedMatching +OMIM:607267 POLE3 skos:exactMatch hgnc.symbol:POLE3 semapv:UnspecifiedMatching OMIM:607267 POLE3 skos:exactMatch ncbigene:54107 semapv:UnspecifiedMatching -OMIM:607268 CHRAC1 skos:exactMatch hgnc:CHRAC1 semapv:UnspecifiedMatching +OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:13544 semapv:UnspecifiedMatching +OMIM:607268 CHRAC1 skos:exactMatch hgnc.symbol:CHRAC1 semapv:UnspecifiedMatching OMIM:607268 CHRAC1 skos:exactMatch ncbigene:54108 semapv:UnspecifiedMatching -OMIM:607269 POLE4 skos:exactMatch hgnc:POLE4 semapv:UnspecifiedMatching +OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:18755 semapv:UnspecifiedMatching +OMIM:607269 POLE4 skos:exactMatch hgnc.symbol:POLE4 semapv:UnspecifiedMatching OMIM:607269 POLE4 skos:exactMatch ncbigene:56655 semapv:UnspecifiedMatching -OMIM:607270 AUTS2 skos:exactMatch hgnc:AUTS2 semapv:UnspecifiedMatching +OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:14262 semapv:UnspecifiedMatching +OMIM:607270 AUTS2 skos:exactMatch hgnc.symbol:AUTS2 semapv:UnspecifiedMatching OMIM:607270 AUTS2 skos:exactMatch ncbigene:26053 semapv:UnspecifiedMatching OMIM:607272 NDC80 skos:exactMatch UMLS:C1424628 semapv:UnspecifiedMatching -OMIM:607272 NDC80 skos:exactMatch hgnc:NDC80 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:16909 semapv:UnspecifiedMatching +OMIM:607272 NDC80 skos:exactMatch hgnc.symbol:NDC80 semapv:UnspecifiedMatching OMIM:607272 NDC80 skos:exactMatch ncbigene:10403 semapv:UnspecifiedMatching -OMIM:607273 FLCN skos:exactMatch hgnc:FLCN semapv:UnspecifiedMatching +OMIM:607273 FLCN skos:exactMatch hgnc.symbol:27310 semapv:UnspecifiedMatching +OMIM:607273 FLCN skos:exactMatch hgnc.symbol:FLCN semapv:UnspecifiedMatching OMIM:607273 FLCN skos:exactMatch ncbigene:201163 semapv:UnspecifiedMatching -OMIM:607274 USP14 skos:exactMatch hgnc:USP14 semapv:UnspecifiedMatching +OMIM:607274 USP14 skos:exactMatch hgnc.symbol:12612 semapv:UnspecifiedMatching +OMIM:607274 USP14 skos:exactMatch hgnc.symbol:USP14 semapv:UnspecifiedMatching OMIM:607274 USP14 skos:exactMatch ncbigene:9097 semapv:UnspecifiedMatching -OMIM:607275 HOPX skos:exactMatch hgnc:HOPX semapv:UnspecifiedMatching +OMIM:607275 HOPX skos:exactMatch hgnc.symbol:24961 semapv:UnspecifiedMatching +OMIM:607275 HOPX skos:exactMatch hgnc.symbol:HOPX semapv:UnspecifiedMatching OMIM:607275 HOPX skos:exactMatch ncbigene:84525 semapv:UnspecifiedMatching -OMIM:607280 CNTN4 skos:exactMatch hgnc:CNTN4 semapv:UnspecifiedMatching +OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:2174 semapv:UnspecifiedMatching +OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:CNTN4 semapv:UnspecifiedMatching OMIM:607280 CNTN4 skos:exactMatch ncbigene:152330 semapv:UnspecifiedMatching OMIM:607281 LSM1 skos:exactMatch UMLS:C1426957 semapv:UnspecifiedMatching OMIM:607281 LSM1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607281 LSM1 skos:exactMatch hgnc:LSM1 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:20472 semapv:UnspecifiedMatching +OMIM:607281 LSM1 skos:exactMatch hgnc.symbol:LSM1 semapv:UnspecifiedMatching OMIM:607281 LSM1 skos:exactMatch ncbigene:27257 semapv:UnspecifiedMatching -OMIM:607282 LSM2 skos:exactMatch hgnc:LSM2 semapv:UnspecifiedMatching +OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:13940 semapv:UnspecifiedMatching +OMIM:607282 LSM2 skos:exactMatch hgnc.symbol:LSM2 semapv:UnspecifiedMatching OMIM:607282 LSM2 skos:exactMatch ncbigene:57819 semapv:UnspecifiedMatching -OMIM:607283 LSM3 skos:exactMatch hgnc:LSM3 semapv:UnspecifiedMatching +OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:17874 semapv:UnspecifiedMatching +OMIM:607283 LSM3 skos:exactMatch hgnc.symbol:LSM3 semapv:UnspecifiedMatching OMIM:607283 LSM3 skos:exactMatch ncbigene:27258 semapv:UnspecifiedMatching -OMIM:607284 LSM4 skos:exactMatch hgnc:LSM4 semapv:UnspecifiedMatching +OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:17259 semapv:UnspecifiedMatching +OMIM:607284 LSM4 skos:exactMatch hgnc.symbol:LSM4 semapv:UnspecifiedMatching OMIM:607284 LSM4 skos:exactMatch ncbigene:25804 semapv:UnspecifiedMatching -OMIM:607285 LSM5 skos:exactMatch hgnc:LSM5 semapv:UnspecifiedMatching +OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:17162 semapv:UnspecifiedMatching +OMIM:607285 LSM5 skos:exactMatch hgnc.symbol:LSM5 semapv:UnspecifiedMatching OMIM:607285 LSM5 skos:exactMatch ncbigene:23658 semapv:UnspecifiedMatching -OMIM:607286 LSM6 skos:exactMatch hgnc:LSM6 semapv:UnspecifiedMatching +OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:17017 semapv:UnspecifiedMatching +OMIM:607286 LSM6 skos:exactMatch hgnc.symbol:LSM6 semapv:UnspecifiedMatching OMIM:607286 LSM6 skos:exactMatch ncbigene:11157 semapv:UnspecifiedMatching -OMIM:607287 LSM7 skos:exactMatch hgnc:LSM7 semapv:UnspecifiedMatching +OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:20470 semapv:UnspecifiedMatching +OMIM:607287 LSM7 skos:exactMatch hgnc.symbol:LSM7 semapv:UnspecifiedMatching OMIM:607287 LSM7 skos:exactMatch ncbigene:51690 semapv:UnspecifiedMatching -OMIM:607288 LSM8 skos:exactMatch hgnc:LSM8 semapv:UnspecifiedMatching +OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:20471 semapv:UnspecifiedMatching +OMIM:607288 LSM8 skos:exactMatch hgnc.symbol:LSM8 semapv:UnspecifiedMatching OMIM:607288 LSM8 skos:exactMatch ncbigene:51691 semapv:UnspecifiedMatching -OMIM:607289 BLOC1S5 skos:exactMatch hgnc:BLOC1S5 semapv:UnspecifiedMatching +OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:18561 semapv:UnspecifiedMatching +OMIM:607289 BLOC1S5 skos:exactMatch hgnc.symbol:BLOC1S5 semapv:UnspecifiedMatching OMIM:607289 BLOC1S5 skos:exactMatch ncbigene:63915 semapv:UnspecifiedMatching -OMIM:607290 SHISA5 skos:exactMatch hgnc:SHISA5 semapv:UnspecifiedMatching +OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:30376 semapv:UnspecifiedMatching +OMIM:607290 SHISA5 skos:exactMatch hgnc.symbol:SHISA5 semapv:UnspecifiedMatching OMIM:607290 SHISA5 skos:exactMatch ncbigene:51246 semapv:UnspecifiedMatching -OMIM:607291 SYNRG skos:exactMatch hgnc:SYNRG semapv:UnspecifiedMatching +OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:557 semapv:UnspecifiedMatching +OMIM:607291 SYNRG skos:exactMatch hgnc.symbol:SYNRG semapv:UnspecifiedMatching OMIM:607291 SYNRG skos:exactMatch ncbigene:11276 semapv:UnspecifiedMatching -OMIM:607292 SEMA4A skos:exactMatch hgnc:SEMA4A semapv:UnspecifiedMatching +OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:10729 semapv:UnspecifiedMatching +OMIM:607292 SEMA4A skos:exactMatch hgnc.symbol:SEMA4A semapv:UnspecifiedMatching OMIM:607292 SEMA4A skos:exactMatch ncbigene:64218 semapv:UnspecifiedMatching -OMIM:607293 CLIC5 skos:exactMatch hgnc:CLIC5 semapv:UnspecifiedMatching +OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:13517 semapv:UnspecifiedMatching +OMIM:607293 CLIC5 skos:exactMatch hgnc.symbol:CLIC5 semapv:UnspecifiedMatching OMIM:607293 CLIC5 skos:exactMatch ncbigene:53405 semapv:UnspecifiedMatching OMIM:607294 TGIF2 skos:exactMatch UMLS:C1423713 semapv:UnspecifiedMatching -OMIM:607294 TGIF2 skos:exactMatch hgnc:TGIF2 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:15764 semapv:UnspecifiedMatching +OMIM:607294 TGIF2 skos:exactMatch hgnc.symbol:TGIF2 semapv:UnspecifiedMatching OMIM:607294 TGIF2 skos:exactMatch ncbigene:60436 semapv:UnspecifiedMatching -OMIM:607295 MYO18B skos:exactMatch hgnc:MYO18B semapv:UnspecifiedMatching +OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:18150 semapv:UnspecifiedMatching +OMIM:607295 MYO18B skos:exactMatch hgnc.symbol:MYO18B semapv:UnspecifiedMatching OMIM:607295 MYO18B skos:exactMatch ncbigene:84700 semapv:UnspecifiedMatching -OMIM:607296 ATP6V1G1 skos:exactMatch hgnc:ATP6V1G1 semapv:UnspecifiedMatching +OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:864 semapv:UnspecifiedMatching +OMIM:607296 ATP6V1G1 skos:exactMatch hgnc.symbol:ATP6V1G1 semapv:UnspecifiedMatching OMIM:607296 ATP6V1G1 skos:exactMatch ncbigene:9550 semapv:UnspecifiedMatching -OMIM:607297 NINJ2 skos:exactMatch hgnc:NINJ2 semapv:UnspecifiedMatching +OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:7825 semapv:UnspecifiedMatching +OMIM:607297 NINJ2 skos:exactMatch hgnc.symbol:NINJ2 semapv:UnspecifiedMatching OMIM:607297 NINJ2 skos:exactMatch ncbigene:4815 semapv:UnspecifiedMatching -OMIM:607298 GNG13 skos:exactMatch hgnc:GNG13 semapv:UnspecifiedMatching +OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:14131 semapv:UnspecifiedMatching +OMIM:607298 GNG13 skos:exactMatch hgnc.symbol:GNG13 semapv:UnspecifiedMatching OMIM:607298 GNG13 skos:exactMatch ncbigene:51764 semapv:UnspecifiedMatching -OMIM:607299 DNER skos:exactMatch hgnc:DNER semapv:UnspecifiedMatching +OMIM:607299 DNER skos:exactMatch hgnc.symbol:24456 semapv:UnspecifiedMatching +OMIM:607299 DNER skos:exactMatch hgnc.symbol:DNER semapv:UnspecifiedMatching OMIM:607299 DNER skos:exactMatch ncbigene:92737 semapv:UnspecifiedMatching -OMIM:607300 PRPF8 skos:exactMatch hgnc:PRPF8 semapv:UnspecifiedMatching +OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:17340 semapv:UnspecifiedMatching +OMIM:607300 PRPF8 skos:exactMatch hgnc.symbol:PRPF8 semapv:UnspecifiedMatching OMIM:607300 PRPF8 skos:exactMatch ncbigene:10594 semapv:UnspecifiedMatching -OMIM:607301 PRPF3 skos:exactMatch hgnc:PRPF3 semapv:UnspecifiedMatching +OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:17348 semapv:UnspecifiedMatching +OMIM:607301 PRPF3 skos:exactMatch hgnc.symbol:PRPF3 semapv:UnspecifiedMatching OMIM:607301 PRPF3 skos:exactMatch ncbigene:9129 semapv:UnspecifiedMatching -OMIM:607303 MORF4L1 skos:exactMatch hgnc:MORF4L1 semapv:UnspecifiedMatching +OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:16989 semapv:UnspecifiedMatching +OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:MORF4L1 semapv:UnspecifiedMatching OMIM:607303 MORF4L1 skos:exactMatch ncbigene:10933 semapv:UnspecifiedMatching -OMIM:607305 mds2 gene skos:exactMatch hgnc:MDS2 semapv:UnspecifiedMatching +OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:29633 semapv:UnspecifiedMatching +OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:MDS2 semapv:UnspecifiedMatching OMIM:607305 mds2 gene skos:exactMatch ncbigene:259283 semapv:UnspecifiedMatching -OMIM:607306 SRD5A2 skos:exactMatch hgnc:SRD5A2 semapv:UnspecifiedMatching +OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:11285 semapv:UnspecifiedMatching +OMIM:607306 SRD5A2 skos:exactMatch hgnc.symbol:SRD5A2 semapv:UnspecifiedMatching OMIM:607306 SRD5A2 skos:exactMatch ncbigene:6716 semapv:UnspecifiedMatching -OMIM:607307 FILIP1 skos:exactMatch hgnc:FILIP1 semapv:UnspecifiedMatching +OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:21015 semapv:UnspecifiedMatching +OMIM:607307 FILIP1 skos:exactMatch hgnc.symbol:FILIP1 semapv:UnspecifiedMatching OMIM:607307 FILIP1 skos:exactMatch ncbigene:27145 semapv:UnspecifiedMatching OMIM:607308 mammographic density skos:exactMatch UMLS:C1268717 semapv:UnspecifiedMatching -OMIM:607309 AP1M2 skos:exactMatch hgnc:AP1M2 semapv:UnspecifiedMatching +OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:558 semapv:UnspecifiedMatching +OMIM:607309 AP1M2 skos:exactMatch hgnc.symbol:AP1M2 semapv:UnspecifiedMatching OMIM:607309 AP1M2 skos:exactMatch ncbigene:10053 semapv:UnspecifiedMatching -OMIM:607310 ADAM7 skos:exactMatch hgnc:ADAM7 semapv:UnspecifiedMatching +OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:214 semapv:UnspecifiedMatching +OMIM:607310 ADAM7 skos:exactMatch hgnc.symbol:ADAM7 semapv:UnspecifiedMatching OMIM:607310 ADAM7 skos:exactMatch ncbigene:8756 semapv:UnspecifiedMatching -OMIM:607311 PGR skos:exactMatch hgnc:PGR semapv:UnspecifiedMatching +OMIM:607311 PGR skos:exactMatch hgnc.symbol:8910 semapv:UnspecifiedMatching +OMIM:607311 PGR skos:exactMatch hgnc.symbol:PGR semapv:UnspecifiedMatching OMIM:607311 PGR skos:exactMatch ncbigene:5241 semapv:UnspecifiedMatching -OMIM:607312 ZC3HAV1 skos:exactMatch hgnc:ZC3HAV1 semapv:UnspecifiedMatching +OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:23721 semapv:UnspecifiedMatching +OMIM:607312 ZC3HAV1 skos:exactMatch hgnc.symbol:ZC3HAV1 semapv:UnspecifiedMatching OMIM:607312 ZC3HAV1 skos:exactMatch ncbigene:56829 semapv:UnspecifiedMatching -OMIM:607314 CABP2 skos:exactMatch hgnc:CABP2 semapv:UnspecifiedMatching +OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:1385 semapv:UnspecifiedMatching +OMIM:607314 CABP2 skos:exactMatch hgnc.symbol:CABP2 semapv:UnspecifiedMatching OMIM:607314 CABP2 skos:exactMatch ncbigene:51475 semapv:UnspecifiedMatching -OMIM:607315 CABP5 skos:exactMatch hgnc:CABP5 semapv:UnspecifiedMatching +OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:13714 semapv:UnspecifiedMatching +OMIM:607315 CABP5 skos:exactMatch hgnc.symbol:CABP5 semapv:UnspecifiedMatching OMIM:607315 CABP5 skos:exactMatch ncbigene:56344 semapv:UnspecifiedMatching +OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch Orphanet:95434 semapv:UnspecifiedMatching OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch UMLS:C1846492 semapv:UnspecifiedMatching -OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 skos:exactMatch orphanet.ordo:95434 semapv:UnspecifiedMatching -OMIM:607318 LOXL4 skos:exactMatch hgnc:LOXL4 semapv:UnspecifiedMatching +OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:17171 semapv:UnspecifiedMatching +OMIM:607318 LOXL4 skos:exactMatch hgnc.symbol:LOXL4 semapv:UnspecifiedMatching OMIM:607318 LOXL4 skos:exactMatch ncbigene:84171 semapv:UnspecifiedMatching -OMIM:607319 SFMBT1 skos:exactMatch hgnc:SFMBT1 semapv:UnspecifiedMatching +OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:20255 semapv:UnspecifiedMatching +OMIM:607319 SFMBT1 skos:exactMatch hgnc.symbol:SFMBT1 semapv:UnspecifiedMatching OMIM:607319 SFMBT1 skos:exactMatch ncbigene:51460 semapv:UnspecifiedMatching -OMIM:607320 RASGRP4 skos:exactMatch hgnc:RASGRP4 semapv:UnspecifiedMatching +OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:18958 semapv:UnspecifiedMatching +OMIM:607320 RASGRP4 skos:exactMatch hgnc.symbol:RASGRP4 semapv:UnspecifiedMatching OMIM:607320 RASGRP4 skos:exactMatch ncbigene:115727 semapv:UnspecifiedMatching -OMIM:607321 ATP1A4 skos:exactMatch hgnc:ATP1A4 semapv:UnspecifiedMatching +OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:14073 semapv:UnspecifiedMatching +OMIM:607321 ATP1A4 skos:exactMatch hgnc.symbol:ATP1A4 semapv:UnspecifiedMatching OMIM:607321 ATP1A4 skos:exactMatch ncbigene:480 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:93293 semapv:UnspecifiedMatching +OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:959 semapv:UnspecifiedMatching OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C0751084 semapv:UnspecifiedMatching OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch orphanet.ordo:93293 semapv:UnspecifiedMatching -OMIM:607323 duane-radial ray syndrome skos:exactMatch orphanet.ordo:959 semapv:UnspecifiedMatching -OMIM:607325 DOCK9 skos:exactMatch hgnc:DOCK9 semapv:UnspecifiedMatching +OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:14132 semapv:UnspecifiedMatching +OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:DOCK9 semapv:UnspecifiedMatching OMIM:607325 DOCK9 skos:exactMatch ncbigene:23348 semapv:UnspecifiedMatching -OMIM:607327 MBNL2 skos:exactMatch hgnc:MBNL2 semapv:UnspecifiedMatching +OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:16746 semapv:UnspecifiedMatching +OMIM:607327 MBNL2 skos:exactMatch hgnc.symbol:MBNL2 semapv:UnspecifiedMatching OMIM:607327 MBNL2 skos:exactMatch ncbigene:10150 semapv:UnspecifiedMatching -OMIM:607328 HEXIM1 skos:exactMatch hgnc:HEXIM1 semapv:UnspecifiedMatching +OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:24953 semapv:UnspecifiedMatching +OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:HEXIM1 semapv:UnspecifiedMatching OMIM:607328 HEXIM1 skos:exactMatch ncbigene:10614 semapv:UnspecifiedMatching OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching +OMIM:607330 lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching OMIM:607330 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching -OMIM:607330 lathosterolosis skos:exactMatch orphanet.ordo:46059 semapv:UnspecifiedMatching -OMIM:607331 RP9 skos:exactMatch hgnc:RP9 semapv:UnspecifiedMatching +OMIM:607331 RP9 skos:exactMatch hgnc.symbol:10288 semapv:UnspecifiedMatching +OMIM:607331 RP9 skos:exactMatch hgnc.symbol:RP9 semapv:UnspecifiedMatching OMIM:607331 RP9 skos:exactMatch ncbigene:6100 semapv:UnspecifiedMatching -OMIM:607332 NREP skos:exactMatch hgnc:NREP semapv:UnspecifiedMatching +OMIM:607332 NREP skos:exactMatch hgnc.symbol:16834 semapv:UnspecifiedMatching +OMIM:607332 NREP skos:exactMatch hgnc.symbol:NREP semapv:UnspecifiedMatching OMIM:607332 NREP skos:exactMatch ncbigene:9315 semapv:UnspecifiedMatching -OMIM:607333 STRADB skos:exactMatch hgnc:STRADB semapv:UnspecifiedMatching +OMIM:607333 STRADB skos:exactMatch hgnc.symbol:13205 semapv:UnspecifiedMatching +OMIM:607333 STRADB skos:exactMatch hgnc.symbol:STRADB semapv:UnspecifiedMatching OMIM:607333 STRADB skos:exactMatch ncbigene:55437 semapv:UnspecifiedMatching -OMIM:607334 TRAK2 skos:exactMatch hgnc:TRAK2 semapv:UnspecifiedMatching +OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:13206 semapv:UnspecifiedMatching +OMIM:607334 TRAK2 skos:exactMatch hgnc.symbol:TRAK2 semapv:UnspecifiedMatching OMIM:607334 TRAK2 skos:exactMatch ncbigene:66008 semapv:UnspecifiedMatching -OMIM:607335 BEST2 skos:exactMatch hgnc:BEST2 semapv:UnspecifiedMatching +OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:17107 semapv:UnspecifiedMatching +OMIM:607335 BEST2 skos:exactMatch hgnc.symbol:BEST2 semapv:UnspecifiedMatching OMIM:607335 BEST2 skos:exactMatch ncbigene:54831 semapv:UnspecifiedMatching -OMIM:607336 BEST4 skos:exactMatch hgnc:BEST4 semapv:UnspecifiedMatching +OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:17106 semapv:UnspecifiedMatching +OMIM:607336 BEST4 skos:exactMatch hgnc.symbol:BEST4 semapv:UnspecifiedMatching OMIM:607336 BEST4 skos:exactMatch ncbigene:266675 semapv:UnspecifiedMatching -OMIM:607337 BEST3 skos:exactMatch hgnc:BEST3 semapv:UnspecifiedMatching +OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:17105 semapv:UnspecifiedMatching +OMIM:607337 BEST3 skos:exactMatch hgnc.symbol:BEST3 semapv:UnspecifiedMatching OMIM:607337 BEST3 skos:exactMatch ncbigene:144453 semapv:UnspecifiedMatching -OMIM:607338 LEPROTL1 skos:exactMatch hgnc:LEPROTL1 semapv:UnspecifiedMatching +OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:6555 semapv:UnspecifiedMatching +OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:LEPROTL1 semapv:UnspecifiedMatching OMIM:607338 LEPROTL1 skos:exactMatch ncbigene:23484 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C1846414 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693546 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching -OMIM:607340 GABBR2 skos:exactMatch hgnc:GABBR2 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:4507 semapv:UnspecifiedMatching +OMIM:607340 GABBR2 skos:exactMatch hgnc.symbol:GABBR2 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch ncbigene:9568 semapv:UnspecifiedMatching -OMIM:607342 CPEB1 skos:exactMatch hgnc:CPEB1 semapv:UnspecifiedMatching +OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:21744 semapv:UnspecifiedMatching +OMIM:607342 CPEB1 skos:exactMatch hgnc.symbol:CPEB1 semapv:UnspecifiedMatching OMIM:607342 CPEB1 skos:exactMatch ncbigene:64506 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch UMLS:C1327918 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch UMLS:C1423836 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching -OMIM:607343 SALL4 skos:exactMatch hgnc:SALL4 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:15924 semapv:UnspecifiedMatching +OMIM:607343 SALL4 skos:exactMatch hgnc.symbol:SALL4 semapv:UnspecifiedMatching OMIM:607343 SALL4 skos:exactMatch ncbigene:57167 semapv:UnspecifiedMatching -OMIM:607344 TUBD1 skos:exactMatch hgnc:TUBD1 semapv:UnspecifiedMatching +OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:16811 semapv:UnspecifiedMatching +OMIM:607344 TUBD1 skos:exactMatch hgnc.symbol:TUBD1 semapv:UnspecifiedMatching OMIM:607344 TUBD1 skos:exactMatch ncbigene:51174 semapv:UnspecifiedMatching -OMIM:607345 TUBE1 skos:exactMatch hgnc:TUBE1 semapv:UnspecifiedMatching +OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:20775 semapv:UnspecifiedMatching +OMIM:607345 TUBE1 skos:exactMatch hgnc.symbol:TUBE1 semapv:UnspecifiedMatching OMIM:607345 TUBE1 skos:exactMatch ncbigene:51175 semapv:UnspecifiedMatching OMIM:607347 ALPK1 skos:exactMatch UMLS:C1538265 semapv:UnspecifiedMatching OMIM:607347 ALPK1 skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching -OMIM:607347 ALPK1 skos:exactMatch hgnc:ALPK1 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:20917 semapv:UnspecifiedMatching +OMIM:607347 ALPK1 skos:exactMatch hgnc.symbol:ALPK1 semapv:UnspecifiedMatching OMIM:607347 ALPK1 skos:exactMatch ncbigene:80216 semapv:UnspecifiedMatching OMIM:607348 HES5 skos:exactMatch UMLS:C1426393 semapv:UnspecifiedMatching -OMIM:607348 HES5 skos:exactMatch hgnc:HES5 semapv:UnspecifiedMatching +OMIM:607348 HES5 skos:exactMatch hgnc.symbol:19764 semapv:UnspecifiedMatching +OMIM:607348 HES5 skos:exactMatch hgnc.symbol:HES5 semapv:UnspecifiedMatching OMIM:607348 HES5 skos:exactMatch ncbigene:388585 semapv:UnspecifiedMatching -OMIM:607349 TLN2 skos:exactMatch hgnc:TLN2 semapv:UnspecifiedMatching +OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:15447 semapv:UnspecifiedMatching +OMIM:607349 TLN2 skos:exactMatch hgnc.symbol:TLN2 semapv:UnspecifiedMatching OMIM:607349 TLN2 skos:exactMatch ncbigene:83660 semapv:UnspecifiedMatching -OMIM:607350 KIF13B skos:exactMatch hgnc:KIF13B semapv:UnspecifiedMatching +OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:14405 semapv:UnspecifiedMatching +OMIM:607350 KIF13B skos:exactMatch hgnc.symbol:KIF13B semapv:UnspecifiedMatching OMIM:607350 KIF13B skos:exactMatch ncbigene:23303 semapv:UnspecifiedMatching -OMIM:607351 RHOBTB1 skos:exactMatch hgnc:RHOBTB1 semapv:UnspecifiedMatching +OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:18738 semapv:UnspecifiedMatching +OMIM:607351 RHOBTB1 skos:exactMatch hgnc.symbol:RHOBTB1 semapv:UnspecifiedMatching OMIM:607351 RHOBTB1 skos:exactMatch ncbigene:9886 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C1425762 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching -OMIM:607352 RHOBTB2 skos:exactMatch hgnc:RHOBTB2 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:18756 semapv:UnspecifiedMatching +OMIM:607352 RHOBTB2 skos:exactMatch hgnc.symbol:RHOBTB2 semapv:UnspecifiedMatching OMIM:607352 RHOBTB2 skos:exactMatch ncbigene:23221 semapv:UnspecifiedMatching -OMIM:607353 RHOBTB3 skos:exactMatch hgnc:RHOBTB3 semapv:UnspecifiedMatching +OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:18757 semapv:UnspecifiedMatching +OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:RHOBTB3 semapv:UnspecifiedMatching OMIM:607353 RHOBTB3 skos:exactMatch ncbigene:22836 semapv:UnspecifiedMatching -OMIM:607355 AGO3 skos:exactMatch hgnc:AGO3 semapv:UnspecifiedMatching +OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:18421 semapv:UnspecifiedMatching +OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:AGO3 semapv:UnspecifiedMatching OMIM:607355 AGO3 skos:exactMatch ncbigene:192669 semapv:UnspecifiedMatching -OMIM:607356 AGO4 skos:exactMatch hgnc:AGO4 semapv:UnspecifiedMatching +OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:18424 semapv:UnspecifiedMatching +OMIM:607356 AGO4 skos:exactMatch hgnc.symbol:AGO4 semapv:UnspecifiedMatching OMIM:607356 AGO4 skos:exactMatch ncbigene:192670 semapv:UnspecifiedMatching -OMIM:607357 KCNQ5 skos:exactMatch hgnc:KCNQ5 semapv:UnspecifiedMatching +OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:6299 semapv:UnspecifiedMatching +OMIM:607357 KCNQ5 skos:exactMatch hgnc.symbol:KCNQ5 semapv:UnspecifiedMatching OMIM:607357 KCNQ5 skos:exactMatch ncbigene:56479 semapv:UnspecifiedMatching -OMIM:607358 AIRE skos:exactMatch hgnc:AIRE semapv:UnspecifiedMatching +OMIM:607358 AIRE skos:exactMatch hgnc.symbol:360 semapv:UnspecifiedMatching +OMIM:607358 AIRE skos:exactMatch hgnc.symbol:AIRE semapv:UnspecifiedMatching OMIM:607358 AIRE skos:exactMatch ncbigene:326 semapv:UnspecifiedMatching -OMIM:607359 CCAR2 skos:exactMatch hgnc:CCAR2 semapv:UnspecifiedMatching +OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:23360 semapv:UnspecifiedMatching +OMIM:607359 CCAR2 skos:exactMatch hgnc.symbol:CCAR2 semapv:UnspecifiedMatching OMIM:607359 CCAR2 skos:exactMatch ncbigene:57805 semapv:UnspecifiedMatching -OMIM:607360 LACRT skos:exactMatch hgnc:LACRT semapv:UnspecifiedMatching +OMIM:607360 LACRT skos:exactMatch hgnc.symbol:16430 semapv:UnspecifiedMatching +OMIM:607360 LACRT skos:exactMatch hgnc.symbol:LACRT semapv:UnspecifiedMatching OMIM:607360 LACRT skos:exactMatch ncbigene:90070 semapv:UnspecifiedMatching -OMIM:607362 RGMA skos:exactMatch hgnc:RGMA semapv:UnspecifiedMatching +OMIM:607362 RGMA skos:exactMatch hgnc.symbol:30308 semapv:UnspecifiedMatching +OMIM:607362 RGMA skos:exactMatch hgnc.symbol:RGMA semapv:UnspecifiedMatching OMIM:607362 RGMA skos:exactMatch ncbigene:56963 semapv:UnspecifiedMatching -OMIM:607363 KNTC1 skos:exactMatch hgnc:KNTC1 semapv:UnspecifiedMatching +OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:17255 semapv:UnspecifiedMatching +OMIM:607363 KNTC1 skos:exactMatch hgnc.symbol:KNTC1 semapv:UnspecifiedMatching OMIM:607363 KNTC1 skos:exactMatch ncbigene:9735 semapv:UnspecifiedMatching -OMIM:607365 LIPH skos:exactMatch hgnc:LIPH semapv:UnspecifiedMatching +OMIM:607365 LIPH skos:exactMatch hgnc.symbol:18483 semapv:UnspecifiedMatching +OMIM:607365 LIPH skos:exactMatch hgnc.symbol:LIPH semapv:UnspecifiedMatching OMIM:607365 LIPH skos:exactMatch ncbigene:200879 semapv:UnspecifiedMatching -OMIM:607366 KCNK12 skos:exactMatch hgnc:KCNK12 semapv:UnspecifiedMatching +OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:6274 semapv:UnspecifiedMatching +OMIM:607366 KCNK12 skos:exactMatch hgnc.symbol:KCNK12 semapv:UnspecifiedMatching OMIM:607366 KCNK12 skos:exactMatch ncbigene:56660 semapv:UnspecifiedMatching -OMIM:607367 KCNK13 skos:exactMatch hgnc:KCNK13 semapv:UnspecifiedMatching +OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:6275 semapv:UnspecifiedMatching +OMIM:607367 KCNK13 skos:exactMatch hgnc.symbol:KCNK13 semapv:UnspecifiedMatching OMIM:607367 KCNK13 skos:exactMatch ncbigene:56659 semapv:UnspecifiedMatching -OMIM:607368 KCNK15 skos:exactMatch hgnc:KCNK15 semapv:UnspecifiedMatching +OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:13814 semapv:UnspecifiedMatching +OMIM:607368 KCNK15 skos:exactMatch hgnc.symbol:KCNK15 semapv:UnspecifiedMatching OMIM:607368 KCNK15 skos:exactMatch ncbigene:60598 semapv:UnspecifiedMatching -OMIM:607369 KCNK16 skos:exactMatch hgnc:KCNK16 semapv:UnspecifiedMatching +OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:14464 semapv:UnspecifiedMatching +OMIM:607369 KCNK16 skos:exactMatch hgnc.symbol:KCNK16 semapv:UnspecifiedMatching OMIM:607369 KCNK16 skos:exactMatch ncbigene:83795 semapv:UnspecifiedMatching -OMIM:607370 KCNK17 skos:exactMatch hgnc:KCNK17 semapv:UnspecifiedMatching +OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:14465 semapv:UnspecifiedMatching +OMIM:607370 KCNK17 skos:exactMatch hgnc.symbol:KCNK17 semapv:UnspecifiedMatching OMIM:607370 KCNK17 skos:exactMatch ncbigene:89822 semapv:UnspecifiedMatching -OMIM:607372 MED15 skos:exactMatch hgnc:MED15 semapv:UnspecifiedMatching +OMIM:607372 MED15 skos:exactMatch hgnc.symbol:14248 semapv:UnspecifiedMatching +OMIM:607372 MED15 skos:exactMatch hgnc.symbol:MED15 semapv:UnspecifiedMatching OMIM:607372 MED15 skos:exactMatch ncbigene:51586 semapv:UnspecifiedMatching -OMIM:607374 PRKRIR skos:exactMatch hgnc:THAP12 semapv:UnspecifiedMatching +OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:9440 semapv:UnspecifiedMatching +OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:THAP12 semapv:UnspecifiedMatching OMIM:607374 PRKRIR skos:exactMatch ncbigene:5612 semapv:UnspecifiedMatching -OMIM:607375 DOT1L skos:exactMatch hgnc:DOT1L semapv:UnspecifiedMatching +OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:24948 semapv:UnspecifiedMatching +OMIM:607375 DOT1L skos:exactMatch hgnc.symbol:DOT1L semapv:UnspecifiedMatching OMIM:607375 DOT1L skos:exactMatch ncbigene:84444 semapv:UnspecifiedMatching -OMIM:607376 DCTN2 skos:exactMatch hgnc:DCTN2 semapv:UnspecifiedMatching +OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:2712 semapv:UnspecifiedMatching +OMIM:607376 DCTN2 skos:exactMatch hgnc.symbol:DCTN2 semapv:UnspecifiedMatching OMIM:607376 DCTN2 skos:exactMatch ncbigene:10540 semapv:UnspecifiedMatching -OMIM:607377 LENEP skos:exactMatch hgnc:LENEP semapv:UnspecifiedMatching +OMIM:607377 LENEP skos:exactMatch hgnc.symbol:14429 semapv:UnspecifiedMatching +OMIM:607377 LENEP skos:exactMatch hgnc.symbol:LENEP semapv:UnspecifiedMatching OMIM:607377 LENEP skos:exactMatch ncbigene:55891 semapv:UnspecifiedMatching -OMIM:607378 SERBP1 skos:exactMatch hgnc:SERBP1 semapv:UnspecifiedMatching +OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:17860 semapv:UnspecifiedMatching +OMIM:607378 SERBP1 skos:exactMatch hgnc.symbol:SERBP1 semapv:UnspecifiedMatching OMIM:607378 SERBP1 skos:exactMatch ncbigene:26135 semapv:UnspecifiedMatching -OMIM:607379 NF2 skos:exactMatch hgnc:NF2 semapv:UnspecifiedMatching +OMIM:607379 NF2 skos:exactMatch hgnc.symbol:7773 semapv:UnspecifiedMatching +OMIM:607379 NF2 skos:exactMatch hgnc.symbol:NF2 semapv:UnspecifiedMatching OMIM:607379 NF2 skos:exactMatch ncbigene:4771 semapv:UnspecifiedMatching -OMIM:607380 TRAF3IP1 skos:exactMatch hgnc:TRAF3IP1 semapv:UnspecifiedMatching +OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:17861 semapv:UnspecifiedMatching +OMIM:607380 TRAF3IP1 skos:exactMatch hgnc.symbol:TRAF3IP1 semapv:UnspecifiedMatching OMIM:607380 TRAF3IP1 skos:exactMatch ncbigene:26146 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch UMLS:C1428182 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching -OMIM:607381 TIMM50 skos:exactMatch hgnc:TIMM50 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:23656 semapv:UnspecifiedMatching +OMIM:607381 TIMM50 skos:exactMatch hgnc.symbol:TIMM50 semapv:UnspecifiedMatching OMIM:607381 TIMM50 skos:exactMatch ncbigene:92609 semapv:UnspecifiedMatching -OMIM:607382 CLIP3 skos:exactMatch hgnc:CLIP3 semapv:UnspecifiedMatching +OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:24314 semapv:UnspecifiedMatching +OMIM:607382 CLIP3 skos:exactMatch hgnc.symbol:CLIP3 semapv:UnspecifiedMatching OMIM:607382 CLIP3 skos:exactMatch ncbigene:25999 semapv:UnspecifiedMatching OMIM:607383 TIMM13 skos:exactMatch UMLS:C1420739 semapv:UnspecifiedMatching -OMIM:607383 TIMM13 skos:exactMatch hgnc:TIMM13 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:11816 semapv:UnspecifiedMatching +OMIM:607383 TIMM13 skos:exactMatch hgnc.symbol:TIMM13 semapv:UnspecifiedMatching OMIM:607383 TIMM13 skos:exactMatch ncbigene:26517 semapv:UnspecifiedMatching OMIM:607384 TIMM9 skos:exactMatch UMLS:C1420742 semapv:UnspecifiedMatching -OMIM:607384 TIMM9 skos:exactMatch hgnc:TIMM9 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:11819 semapv:UnspecifiedMatching +OMIM:607384 TIMM9 skos:exactMatch hgnc.symbol:TIMM9 semapv:UnspecifiedMatching OMIM:607384 TIMM9 skos:exactMatch ncbigene:26520 semapv:UnspecifiedMatching -OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc:MGAT4C semapv:UnspecifiedMatching +OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:30871 semapv:UnspecifiedMatching +OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch hgnc.symbol:MGAT4C semapv:UnspecifiedMatching OMIM:607385 udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4 skos:exactMatch ncbigene:25834 semapv:UnspecifiedMatching -OMIM:607386 IFT172 skos:exactMatch hgnc:IFT172 semapv:UnspecifiedMatching +OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:30391 semapv:UnspecifiedMatching +OMIM:607386 IFT172 skos:exactMatch hgnc.symbol:IFT172 semapv:UnspecifiedMatching OMIM:607386 IFT172 skos:exactMatch ncbigene:26160 semapv:UnspecifiedMatching -OMIM:607387 DCTN3 skos:exactMatch hgnc:DCTN3 semapv:UnspecifiedMatching +OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:2713 semapv:UnspecifiedMatching +OMIM:607387 DCTN3 skos:exactMatch hgnc.symbol:DCTN3 semapv:UnspecifiedMatching OMIM:607387 DCTN3 skos:exactMatch ncbigene:11258 semapv:UnspecifiedMatching OMIM:607388 TIMM10B skos:exactMatch UMLS:C1414871 semapv:UnspecifiedMatching -OMIM:607388 TIMM10B skos:exactMatch hgnc:TIMM10B semapv:UnspecifiedMatching +OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:4022 semapv:UnspecifiedMatching +OMIM:607388 TIMM10B skos:exactMatch hgnc.symbol:TIMM10B semapv:UnspecifiedMatching OMIM:607388 TIMM10B skos:exactMatch ncbigene:26515 semapv:UnspecifiedMatching -OMIM:607389 SSBP2 skos:exactMatch hgnc:SSBP2 semapv:UnspecifiedMatching +OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:15831 semapv:UnspecifiedMatching +OMIM:607389 SSBP2 skos:exactMatch hgnc.symbol:SSBP2 semapv:UnspecifiedMatching OMIM:607389 SSBP2 skos:exactMatch ncbigene:23635 semapv:UnspecifiedMatching -OMIM:607390 SSBP3 skos:exactMatch hgnc:SSBP3 semapv:UnspecifiedMatching +OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:15674 semapv:UnspecifiedMatching +OMIM:607390 SSBP3 skos:exactMatch hgnc.symbol:SSBP3 semapv:UnspecifiedMatching OMIM:607390 SSBP3 skos:exactMatch ncbigene:23648 semapv:UnspecifiedMatching -OMIM:607391 SSBP4 skos:exactMatch hgnc:SSBP4 semapv:UnspecifiedMatching +OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:15676 semapv:UnspecifiedMatching +OMIM:607391 SSBP4 skos:exactMatch hgnc.symbol:SSBP4 semapv:UnspecifiedMatching OMIM:607391 SSBP4 skos:exactMatch ncbigene:170463 semapv:UnspecifiedMatching OMIM:607392 WWTR1 skos:exactMatch UMLS:C1538117 semapv:UnspecifiedMatching -OMIM:607392 WWTR1 skos:exactMatch hgnc:WWTR1 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:24042 semapv:UnspecifiedMatching +OMIM:607392 WWTR1 skos:exactMatch hgnc.symbol:WWTR1 semapv:UnspecifiedMatching OMIM:607392 WWTR1 skos:exactMatch ncbigene:25937 semapv:UnspecifiedMatching -OMIM:607393 CDC73 skos:exactMatch hgnc:CDC73 semapv:UnspecifiedMatching +OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:16783 semapv:UnspecifiedMatching +OMIM:607393 CDC73 skos:exactMatch hgnc.symbol:CDC73 semapv:UnspecifiedMatching OMIM:607393 CDC73 skos:exactMatch ncbigene:79577 semapv:UnspecifiedMatching -OMIM:607394 POU2F3 skos:exactMatch hgnc:POU2F3 semapv:UnspecifiedMatching +OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:19864 semapv:UnspecifiedMatching +OMIM:607394 POU2F3 skos:exactMatch hgnc.symbol:POU2F3 semapv:UnspecifiedMatching OMIM:607394 POU2F3 skos:exactMatch ncbigene:25833 semapv:UnspecifiedMatching -OMIM:607396 TOB2 skos:exactMatch hgnc:TOB2 semapv:UnspecifiedMatching +OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:11980 semapv:UnspecifiedMatching +OMIM:607396 TOB2 skos:exactMatch hgnc.symbol:TOB2 semapv:UnspecifiedMatching OMIM:607396 TOB2 skos:exactMatch ncbigene:10766 semapv:UnspecifiedMatching -OMIM:607397 MC2R skos:exactMatch hgnc:MC2R semapv:UnspecifiedMatching +OMIM:607397 MC2R skos:exactMatch hgnc.symbol:6930 semapv:UnspecifiedMatching +OMIM:607397 MC2R skos:exactMatch hgnc.symbol:MC2R semapv:UnspecifiedMatching OMIM:607397 MC2R skos:exactMatch ncbigene:4158 semapv:UnspecifiedMatching -OMIM:607399 MCOLN2 skos:exactMatch hgnc:MCOLN2 semapv:UnspecifiedMatching +OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:13357 semapv:UnspecifiedMatching +OMIM:607399 MCOLN2 skos:exactMatch hgnc.symbol:MCOLN2 semapv:UnspecifiedMatching OMIM:607399 MCOLN2 skos:exactMatch ncbigene:255231 semapv:UnspecifiedMatching -OMIM:607400 MCOLN3 skos:exactMatch hgnc:MCOLN3 semapv:UnspecifiedMatching +OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:13358 semapv:UnspecifiedMatching +OMIM:607400 MCOLN3 skos:exactMatch hgnc.symbol:MCOLN3 semapv:UnspecifiedMatching OMIM:607400 MCOLN3 skos:exactMatch ncbigene:55283 semapv:UnspecifiedMatching OMIM:607401 IFNL2 skos:exactMatch UMLS:C1425474 semapv:UnspecifiedMatching -OMIM:607401 IFNL2 skos:exactMatch hgnc:IFNL2 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:18364 semapv:UnspecifiedMatching +OMIM:607401 IFNL2 skos:exactMatch hgnc.symbol:IFNL2 semapv:UnspecifiedMatching OMIM:607401 IFNL2 skos:exactMatch ncbigene:282616 semapv:UnspecifiedMatching OMIM:607402 IFNL3 skos:exactMatch UMLS:C1425475 semapv:UnspecifiedMatching -OMIM:607402 IFNL3 skos:exactMatch hgnc:IFNL3 semapv:UnspecifiedMatching +OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:18365 semapv:UnspecifiedMatching +OMIM:607402 IFNL3 skos:exactMatch hgnc.symbol:IFNL3 semapv:UnspecifiedMatching OMIM:607402 IFNL3 skos:exactMatch ncbigene:282617 semapv:UnspecifiedMatching OMIM:607403 IFNL1 skos:exactMatch UMLS:C1425473 semapv:UnspecifiedMatching -OMIM:607403 IFNL1 skos:exactMatch hgnc:IFNL1 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:18363 semapv:UnspecifiedMatching +OMIM:607403 IFNL1 skos:exactMatch hgnc.symbol:IFNL1 semapv:UnspecifiedMatching OMIM:607403 IFNL1 skos:exactMatch ncbigene:282618 semapv:UnspecifiedMatching OMIM:607404 IFNLR1 skos:exactMatch UMLS:C1425622 semapv:UnspecifiedMatching -OMIM:607404 IFNLR1 skos:exactMatch hgnc:IFNLR1 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:18584 semapv:UnspecifiedMatching +OMIM:607404 IFNLR1 skos:exactMatch hgnc.symbol:IFNLR1 semapv:UnspecifiedMatching OMIM:607404 IFNLR1 skos:exactMatch ncbigene:163702 semapv:UnspecifiedMatching -OMIM:607405 TAAR5 skos:exactMatch hgnc:TAAR5 semapv:UnspecifiedMatching +OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:30236 semapv:UnspecifiedMatching +OMIM:607405 TAAR5 skos:exactMatch hgnc.symbol:TAAR5 semapv:UnspecifiedMatching OMIM:607405 TAAR5 skos:exactMatch ncbigene:9038 semapv:UnspecifiedMatching -OMIM:607406 STBD1 skos:exactMatch hgnc:STBD1 semapv:UnspecifiedMatching +OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:24854 semapv:UnspecifiedMatching +OMIM:607406 STBD1 skos:exactMatch hgnc.symbol:STBD1 semapv:UnspecifiedMatching OMIM:607406 STBD1 skos:exactMatch ncbigene:8987 semapv:UnspecifiedMatching -OMIM:607407 EBF3 skos:exactMatch hgnc:EBF3 semapv:UnspecifiedMatching +OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:19087 semapv:UnspecifiedMatching +OMIM:607407 EBF3 skos:exactMatch hgnc.symbol:EBF3 semapv:UnspecifiedMatching OMIM:607407 EBF3 skos:exactMatch ncbigene:253738 semapv:UnspecifiedMatching -OMIM:607408 DAOA skos:exactMatch hgnc:DAOA semapv:UnspecifiedMatching +OMIM:607408 DAOA skos:exactMatch hgnc.symbol:21191 semapv:UnspecifiedMatching +OMIM:607408 DAOA skos:exactMatch hgnc.symbol:DAOA semapv:UnspecifiedMatching OMIM:607408 DAOA skos:exactMatch ncbigene:267012 semapv:UnspecifiedMatching -OMIM:607409 NRN1 skos:exactMatch hgnc:NRN1 semapv:UnspecifiedMatching +OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:17972 semapv:UnspecifiedMatching +OMIM:607409 NRN1 skos:exactMatch hgnc.symbol:NRN1 semapv:UnspecifiedMatching OMIM:607409 NRN1 skos:exactMatch ncbigene:51299 semapv:UnspecifiedMatching -OMIM:607410 DMBX1 skos:exactMatch hgnc:DMBX1 semapv:UnspecifiedMatching +OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:19026 semapv:UnspecifiedMatching +OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:DMBX1 semapv:UnspecifiedMatching OMIM:607410 DMBX1 skos:exactMatch ncbigene:127343 semapv:UnspecifiedMatching -OMIM:607412 BPIFA1 skos:exactMatch hgnc:BPIFA1 semapv:UnspecifiedMatching +OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:15749 semapv:UnspecifiedMatching +OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:BPIFA1 semapv:UnspecifiedMatching OMIM:607412 BPIFA1 skos:exactMatch ncbigene:51297 semapv:UnspecifiedMatching -OMIM:607414 FEZF2 skos:exactMatch hgnc:FEZF2 semapv:UnspecifiedMatching +OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:13506 semapv:UnspecifiedMatching +OMIM:607414 FEZF2 skos:exactMatch hgnc.symbol:FEZF2 semapv:UnspecifiedMatching OMIM:607414 FEZF2 skos:exactMatch ncbigene:55079 semapv:UnspecifiedMatching -OMIM:607415 DAOAAS skos:exactMatch hgnc:DAOA-AS1 semapv:UnspecifiedMatching +OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:30243 semapv:UnspecifiedMatching +OMIM:607415 DAOAAS skos:exactMatch hgnc.symbol:DAOA-AS1 semapv:UnspecifiedMatching OMIM:607415 DAOAAS skos:exactMatch ncbigene:282706 semapv:UnspecifiedMatching OMIM:607416 CHL1 skos:exactMatch UMLS:C1413393 semapv:UnspecifiedMatching -OMIM:607416 CHL1 skos:exactMatch hgnc:CHL1 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:1939 semapv:UnspecifiedMatching +OMIM:607416 CHL1 skos:exactMatch hgnc.symbol:CHL1 semapv:UnspecifiedMatching OMIM:607416 CHL1 skos:exactMatch ncbigene:10752 semapv:UnspecifiedMatching -OMIM:607418 GCC1 skos:exactMatch hgnc:GCC1 semapv:UnspecifiedMatching +OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:19095 semapv:UnspecifiedMatching +OMIM:607418 GCC1 skos:exactMatch hgnc.symbol:GCC1 semapv:UnspecifiedMatching OMIM:607418 GCC1 skos:exactMatch ncbigene:79571 semapv:UnspecifiedMatching OMIM:607419 GEMIN7 skos:exactMatch UMLS:C1426635 semapv:UnspecifiedMatching -OMIM:607419 GEMIN7 skos:exactMatch hgnc:GEMIN7 semapv:UnspecifiedMatching +OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:20045 semapv:UnspecifiedMatching +OMIM:607419 GEMIN7 skos:exactMatch hgnc.symbol:GEMIN7 semapv:UnspecifiedMatching OMIM:607419 GEMIN7 skos:exactMatch ncbigene:79760 semapv:UnspecifiedMatching -OMIM:607420 GABARAPL1 skos:exactMatch hgnc:GABARAPL1 semapv:UnspecifiedMatching +OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:4068 semapv:UnspecifiedMatching +OMIM:607420 GABARAPL1 skos:exactMatch hgnc.symbol:GABARAPL1 semapv:UnspecifiedMatching OMIM:607420 GABARAPL1 skos:exactMatch ncbigene:23710 semapv:UnspecifiedMatching -OMIM:607421 NME8 skos:exactMatch hgnc:NME8 semapv:UnspecifiedMatching +OMIM:607421 NME8 skos:exactMatch hgnc.symbol:16473 semapv:UnspecifiedMatching +OMIM:607421 NME8 skos:exactMatch hgnc.symbol:NME8 semapv:UnspecifiedMatching OMIM:607421 NME8 skos:exactMatch ncbigene:51314 semapv:UnspecifiedMatching -OMIM:607422 GCAT skos:exactMatch hgnc:GCAT semapv:UnspecifiedMatching +OMIM:607422 GCAT skos:exactMatch hgnc.symbol:4188 semapv:UnspecifiedMatching +OMIM:607422 GCAT skos:exactMatch hgnc.symbol:GCAT semapv:UnspecifiedMatching OMIM:607422 GCAT skos:exactMatch ncbigene:23464 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C1418752 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C4284790 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch UMLS:C5436962 semapv:UnspecifiedMatching -OMIM:607423 POMT1 skos:exactMatch hgnc:POMT1 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:9202 semapv:UnspecifiedMatching +OMIM:607423 POMT1 skos:exactMatch hgnc.symbol:POMT1 semapv:UnspecifiedMatching OMIM:607423 POMT1 skos:exactMatch ncbigene:10585 semapv:UnspecifiedMatching -OMIM:607424 GLYAT skos:exactMatch hgnc:GLYAT semapv:UnspecifiedMatching +OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:13734 semapv:UnspecifiedMatching +OMIM:607424 GLYAT skos:exactMatch hgnc.symbol:GLYAT semapv:UnspecifiedMatching OMIM:607424 GLYAT skos:exactMatch ncbigene:10249 semapv:UnspecifiedMatching -OMIM:607425 GJD3 skos:exactMatch hgnc:GJD3 semapv:UnspecifiedMatching +OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:19147 semapv:UnspecifiedMatching +OMIM:607425 GJD3 skos:exactMatch hgnc.symbol:GJD3 semapv:UnspecifiedMatching OMIM:607425 GJD3 skos:exactMatch ncbigene:125111 semapv:UnspecifiedMatching +OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch Orphanet:255249 semapv:UnspecifiedMatching OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch UMLS:C3551954 semapv:UnspecifiedMatching -OMIM:607426 coenzyme Q10 deficiency, primary, 1 skos:exactMatch orphanet.ordo:255249 semapv:UnspecifiedMatching -OMIM:607427 ENOSF1 skos:exactMatch hgnc:ENOSF1 semapv:UnspecifiedMatching +OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:30365 semapv:UnspecifiedMatching +OMIM:607427 ENOSF1 skos:exactMatch hgnc.symbol:ENOSF1 semapv:UnspecifiedMatching OMIM:607427 ENOSF1 skos:exactMatch ncbigene:55556 semapv:UnspecifiedMatching OMIM:607428 KIRREL1 skos:exactMatch UMLS:C1423691 semapv:UnspecifiedMatching -OMIM:607428 KIRREL1 skos:exactMatch hgnc:KIRREL1 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:15734 semapv:UnspecifiedMatching +OMIM:607428 KIRREL1 skos:exactMatch hgnc.symbol:KIRREL1 semapv:UnspecifiedMatching OMIM:607428 KIRREL1 skos:exactMatch ncbigene:55243 semapv:UnspecifiedMatching -OMIM:607429 PDSS1 skos:exactMatch hgnc:PDSS1 semapv:UnspecifiedMatching +OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:17759 semapv:UnspecifiedMatching +OMIM:607429 PDSS1 skos:exactMatch hgnc.symbol:PDSS1 semapv:UnspecifiedMatching OMIM:607429 PDSS1 skos:exactMatch ncbigene:23590 semapv:UnspecifiedMatching -OMIM:607430 DAZAP1 skos:exactMatch hgnc:DAZAP1 semapv:UnspecifiedMatching +OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:2683 semapv:UnspecifiedMatching +OMIM:607430 DAZAP1 skos:exactMatch hgnc.symbol:DAZAP1 semapv:UnspecifiedMatching OMIM:607430 DAZAP1 skos:exactMatch ncbigene:26528 semapv:UnspecifiedMatching -OMIM:607431 DAZAP2 skos:exactMatch hgnc:DAZAP2 semapv:UnspecifiedMatching +OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:2684 semapv:UnspecifiedMatching +OMIM:607431 DAZAP2 skos:exactMatch hgnc.symbol:DAZAP2 semapv:UnspecifiedMatching OMIM:607431 DAZAP2 skos:exactMatch ncbigene:9802 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:95232 semapv:UnspecifiedMatching +OMIM:607432 lissencephaly 1 skos:exactMatch Orphanet:99796 semapv:UnspecifiedMatching OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C0431375 semapv:UnspecifiedMatching OMIM:607432 lissencephaly 1 skos:exactMatch UMLS:C1848201 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch orphanet.ordo:95232 semapv:UnspecifiedMatching -OMIM:607432 lissencephaly 1 skos:exactMatch orphanet.ordo:99796 semapv:UnspecifiedMatching OMIM:607433 TWF2 skos:exactMatch UMLS:C1843915 semapv:UnspecifiedMatching -OMIM:607433 TWF2 skos:exactMatch hgnc:TWF2 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:9621 semapv:UnspecifiedMatching +OMIM:607433 TWF2 skos:exactMatch hgnc.symbol:TWF2 semapv:UnspecifiedMatching OMIM:607433 TWF2 skos:exactMatch ncbigene:11344 semapv:UnspecifiedMatching -OMIM:607434 GTPBP2 skos:exactMatch hgnc:GTPBP2 semapv:UnspecifiedMatching +OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:4670 semapv:UnspecifiedMatching +OMIM:607434 GTPBP2 skos:exactMatch hgnc.symbol:GTPBP2 semapv:UnspecifiedMatching OMIM:607434 GTPBP2 skos:exactMatch ncbigene:54676 semapv:UnspecifiedMatching -OMIM:607435 ERAL1 skos:exactMatch hgnc:ERAL1 semapv:UnspecifiedMatching +OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:3424 semapv:UnspecifiedMatching +OMIM:607435 ERAL1 skos:exactMatch hgnc.symbol:ERAL1 semapv:UnspecifiedMatching OMIM:607435 ERAL1 skos:exactMatch ncbigene:26284 semapv:UnspecifiedMatching -OMIM:607436 PAPOLB skos:exactMatch hgnc:PAPOLB semapv:UnspecifiedMatching +OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:15970 semapv:UnspecifiedMatching +OMIM:607436 PAPOLB skos:exactMatch hgnc.symbol:PAPOLB semapv:UnspecifiedMatching OMIM:607436 PAPOLB skos:exactMatch ncbigene:56903 semapv:UnspecifiedMatching -OMIM:607437 GPRC5D skos:exactMatch hgnc:GPRC5D semapv:UnspecifiedMatching +OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:13310 semapv:UnspecifiedMatching +OMIM:607437 GPRC5D skos:exactMatch hgnc.symbol:GPRC5D semapv:UnspecifiedMatching OMIM:607437 GPRC5D skos:exactMatch ncbigene:55507 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C1426379 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching -OMIM:607439 POMT2 skos:exactMatch hgnc:POMT2 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:19743 semapv:UnspecifiedMatching +OMIM:607439 POMT2 skos:exactMatch hgnc.symbol:POMT2 semapv:UnspecifiedMatching OMIM:607439 POMT2 skos:exactMatch ncbigene:29954 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C0410174 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C1414558 semapv:UnspecifiedMatching @@ -23523,240 +32572,342 @@ OMIM:607440 FKTN skos:exactMatch UMLS:C1969024 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:607440 FKTN skos:exactMatch hgnc:FKTN semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch hgnc.symbol:3622 semapv:UnspecifiedMatching +OMIM:607440 FKTN skos:exactMatch hgnc.symbol:FKTN semapv:UnspecifiedMatching OMIM:607440 FKTN skos:exactMatch ncbigene:2218 semapv:UnspecifiedMatching -OMIM:607441 EPSTI1 skos:exactMatch hgnc:EPSTI1 semapv:UnspecifiedMatching +OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:16465 semapv:UnspecifiedMatching +OMIM:607441 EPSTI1 skos:exactMatch hgnc.symbol:EPSTI1 semapv:UnspecifiedMatching OMIM:607441 EPSTI1 skos:exactMatch ncbigene:94240 semapv:UnspecifiedMatching -OMIM:607442 EML4 skos:exactMatch hgnc:EML4 semapv:UnspecifiedMatching +OMIM:607442 EML4 skos:exactMatch hgnc.symbol:1316 semapv:UnspecifiedMatching +OMIM:607442 EML4 skos:exactMatch hgnc.symbol:EML4 semapv:UnspecifiedMatching OMIM:607442 EML4 skos:exactMatch ncbigene:27436 semapv:UnspecifiedMatching -OMIM:607443 ELSPBP1 skos:exactMatch hgnc:ELSPBP1 semapv:UnspecifiedMatching +OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:14417 semapv:UnspecifiedMatching +OMIM:607443 ELSPBP1 skos:exactMatch hgnc.symbol:ELSPBP1 semapv:UnspecifiedMatching OMIM:607443 ELSPBP1 skos:exactMatch ncbigene:64100 semapv:UnspecifiedMatching -OMIM:607444 SBDS skos:exactMatch hgnc:SBDS semapv:UnspecifiedMatching +OMIM:607444 SBDS skos:exactMatch hgnc.symbol:19440 semapv:UnspecifiedMatching +OMIM:607444 SBDS skos:exactMatch hgnc.symbol:SBDS semapv:UnspecifiedMatching OMIM:607444 SBDS skos:exactMatch ncbigene:51119 semapv:UnspecifiedMatching -OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc:EIF4ENIF1 semapv:UnspecifiedMatching +OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:16687 semapv:UnspecifiedMatching +OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:EIF4ENIF1 semapv:UnspecifiedMatching OMIM:607445 EIF4ENIF1 skos:exactMatch ncbigene:56478 semapv:UnspecifiedMatching -OMIM:607448 NPFFR1 skos:exactMatch hgnc:NPFFR1 semapv:UnspecifiedMatching +OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:17425 semapv:UnspecifiedMatching +OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:NPFFR1 semapv:UnspecifiedMatching OMIM:607448 NPFFR1 skos:exactMatch ncbigene:64106 semapv:UnspecifiedMatching -OMIM:607449 NPFFR2 skos:exactMatch hgnc:NPFFR2 semapv:UnspecifiedMatching +OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:4525 semapv:UnspecifiedMatching +OMIM:607449 NPFFR2 skos:exactMatch hgnc.symbol:NPFFR2 semapv:UnspecifiedMatching OMIM:607449 NPFFR2 skos:exactMatch ncbigene:10886 semapv:UnspecifiedMatching -OMIM:607451 GMEB2 skos:exactMatch hgnc:GMEB2 semapv:UnspecifiedMatching +OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:4371 semapv:UnspecifiedMatching +OMIM:607451 GMEB2 skos:exactMatch hgnc.symbol:GMEB2 semapv:UnspecifiedMatching OMIM:607451 GMEB2 skos:exactMatch ncbigene:26205 semapv:UnspecifiedMatching -OMIM:607452 GABARAPL2 skos:exactMatch hgnc:GABARAPL2 semapv:UnspecifiedMatching +OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:13291 semapv:UnspecifiedMatching +OMIM:607452 GABARAPL2 skos:exactMatch hgnc.symbol:GABARAPL2 semapv:UnspecifiedMatching OMIM:607452 GABARAPL2 skos:exactMatch ncbigene:11345 semapv:UnspecifiedMatching -OMIM:607455 ZFAND3 skos:exactMatch hgnc:ZFAND3 semapv:UnspecifiedMatching +OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:18019 semapv:UnspecifiedMatching +OMIM:607455 ZFAND3 skos:exactMatch hgnc.symbol:ZFAND3 semapv:UnspecifiedMatching OMIM:607455 ZFAND3 skos:exactMatch ncbigene:60685 semapv:UnspecifiedMatching -OMIM:607456 UTP4 skos:exactMatch hgnc:UTP4 semapv:UnspecifiedMatching +OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:1983 semapv:UnspecifiedMatching +OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:UTP4 semapv:UnspecifiedMatching OMIM:607456 UTP4 skos:exactMatch ncbigene:84916 semapv:UnspecifiedMatching -OMIM:607460 PLA1A skos:exactMatch hgnc:PLA1A semapv:UnspecifiedMatching +OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:17661 semapv:UnspecifiedMatching +OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:PLA1A semapv:UnspecifiedMatching OMIM:607460 PLA1A skos:exactMatch ncbigene:51365 semapv:UnspecifiedMatching -OMIM:607461 DYM skos:exactMatch hgnc:DYM semapv:UnspecifiedMatching +OMIM:607461 DYM skos:exactMatch hgnc.symbol:21317 semapv:UnspecifiedMatching +OMIM:607461 DYM skos:exactMatch hgnc.symbol:DYM semapv:UnspecifiedMatching OMIM:607461 DYM skos:exactMatch ncbigene:54808 semapv:UnspecifiedMatching -OMIM:607462 ATN1 skos:exactMatch hgnc:ATN1 semapv:UnspecifiedMatching +OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:3033 semapv:UnspecifiedMatching +OMIM:607462 ATN1 skos:exactMatch hgnc.symbol:ATN1 semapv:UnspecifiedMatching OMIM:607462 ATN1 skos:exactMatch ncbigene:1822 semapv:UnspecifiedMatching -OMIM:607463 PPP1R13L skos:exactMatch hgnc:PPP1R13L semapv:UnspecifiedMatching +OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:18838 semapv:UnspecifiedMatching +OMIM:607463 PPP1R13L skos:exactMatch hgnc.symbol:PPP1R13L semapv:UnspecifiedMatching OMIM:607463 PPP1R13L skos:exactMatch ncbigene:10848 semapv:UnspecifiedMatching -OMIM:607465 CDAN1 skos:exactMatch hgnc:CDAN1 semapv:UnspecifiedMatching +OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:1713 semapv:UnspecifiedMatching +OMIM:607465 CDAN1 skos:exactMatch hgnc.symbol:CDAN1 semapv:UnspecifiedMatching OMIM:607465 CDAN1 skos:exactMatch ncbigene:146059 semapv:UnspecifiedMatching -OMIM:607466 RAB2B skos:exactMatch hgnc:RAB2B semapv:UnspecifiedMatching +OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:20246 semapv:UnspecifiedMatching +OMIM:607466 RAB2B skos:exactMatch hgnc.symbol:RAB2B semapv:UnspecifiedMatching OMIM:607466 RAB2B skos:exactMatch ncbigene:84932 semapv:UnspecifiedMatching -OMIM:607467 CLECL1 skos:exactMatch hgnc:CLECL1P semapv:UnspecifiedMatching +OMIM:607467 CLECL1 skos:exactMatch hgnc.symbol:CLECL1P semapv:UnspecifiedMatching OMIM:607467 CLECL1 skos:exactMatch ncbigene:160365 semapv:UnspecifiedMatching -OMIM:607468 GPR88 skos:exactMatch hgnc:GPR88 semapv:UnspecifiedMatching +OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:4539 semapv:UnspecifiedMatching +OMIM:607468 GPR88 skos:exactMatch hgnc.symbol:GPR88 semapv:UnspecifiedMatching OMIM:607468 GPR88 skos:exactMatch ncbigene:54112 semapv:UnspecifiedMatching -OMIM:607469 NAAA skos:exactMatch hgnc:NAAA semapv:UnspecifiedMatching +OMIM:607469 NAAA skos:exactMatch hgnc.symbol:736 semapv:UnspecifiedMatching +OMIM:607469 NAAA skos:exactMatch hgnc.symbol:NAAA semapv:UnspecifiedMatching OMIM:607469 NAAA skos:exactMatch ncbigene:27163 semapv:UnspecifiedMatching -OMIM:607470 BCAS3 skos:exactMatch hgnc:BCAS3 semapv:UnspecifiedMatching +OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:14347 semapv:UnspecifiedMatching +OMIM:607470 BCAS3 skos:exactMatch hgnc.symbol:BCAS3 semapv:UnspecifiedMatching OMIM:607470 BCAS3 skos:exactMatch ncbigene:54828 semapv:UnspecifiedMatching -OMIM:607471 BCAS4 skos:exactMatch hgnc:BCAS4 semapv:UnspecifiedMatching +OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:14367 semapv:UnspecifiedMatching +OMIM:607471 BCAS4 skos:exactMatch hgnc.symbol:BCAS4 semapv:UnspecifiedMatching OMIM:607471 BCAS4 skos:exactMatch ncbigene:55653 semapv:UnspecifiedMatching OMIM:607472 YME1L1 skos:exactMatch UMLS:C1421554 semapv:UnspecifiedMatching OMIM:607472 YME1L1 skos:exactMatch UMLS:C4310628 semapv:UnspecifiedMatching -OMIM:607472 YME1L1 skos:exactMatch hgnc:YME1L1 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:12843 semapv:UnspecifiedMatching +OMIM:607472 YME1L1 skos:exactMatch hgnc.symbol:YME1L1 semapv:UnspecifiedMatching OMIM:607472 YME1L1 skos:exactMatch ncbigene:10730 semapv:UnspecifiedMatching -OMIM:607474 HGD skos:exactMatch hgnc:HGD semapv:UnspecifiedMatching +OMIM:607474 HGD skos:exactMatch hgnc.symbol:4892 semapv:UnspecifiedMatching +OMIM:607474 HGD skos:exactMatch hgnc.symbol:HGD semapv:UnspecifiedMatching OMIM:607474 HGD skos:exactMatch ncbigene:3081 semapv:UnspecifiedMatching +OMIM:607475 bothnia retinal dystrophy skos:exactMatch Orphanet:85128 semapv:UnspecifiedMatching OMIM:607475 bothnia retinal dystrophy skos:exactMatch UMLS:C1843816 semapv:UnspecifiedMatching -OMIM:607475 bothnia retinal dystrophy skos:exactMatch orphanet.ordo:85128 semapv:UnspecifiedMatching -OMIM:607477 GTSE1 skos:exactMatch hgnc:GTSE1 semapv:UnspecifiedMatching +OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:13698 semapv:UnspecifiedMatching +OMIM:607477 GTSE1 skos:exactMatch hgnc.symbol:GTSE1 semapv:UnspecifiedMatching OMIM:607477 GTSE1 skos:exactMatch ncbigene:51512 semapv:UnspecifiedMatching -OMIM:607478 TPH2 skos:exactMatch hgnc:TPH2 semapv:UnspecifiedMatching +OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:20692 semapv:UnspecifiedMatching +OMIM:607478 TPH2 skos:exactMatch hgnc.symbol:TPH2 semapv:UnspecifiedMatching OMIM:607478 TPH2 skos:exactMatch ncbigene:121278 semapv:UnspecifiedMatching -OMIM:607479 APCDD1 skos:exactMatch hgnc:APCDD1 semapv:UnspecifiedMatching +OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:15718 semapv:UnspecifiedMatching +OMIM:607479 APCDD1 skos:exactMatch hgnc.symbol:APCDD1 semapv:UnspecifiedMatching OMIM:607479 APCDD1 skos:exactMatch ncbigene:147495 semapv:UnspecifiedMatching -OMIM:607481 MMAA skos:exactMatch hgnc:MMAA semapv:UnspecifiedMatching +OMIM:607481 MMAA skos:exactMatch hgnc.symbol:18871 semapv:UnspecifiedMatching +OMIM:607481 MMAA skos:exactMatch hgnc.symbol:MMAA semapv:UnspecifiedMatching OMIM:607481 MMAA skos:exactMatch ncbigene:166785 semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch UMLS:C1335190 semapv:UnspecifiedMatching -OMIM:607484 PARD6A skos:exactMatch hgnc:PARD6A semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:15943 semapv:UnspecifiedMatching +OMIM:607484 PARD6A skos:exactMatch hgnc.symbol:PARD6A semapv:UnspecifiedMatching OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching -OMIM:607489 CUL9 skos:exactMatch hgnc:CUL9 semapv:UnspecifiedMatching +OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:15982 semapv:UnspecifiedMatching +OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:CUL9 semapv:UnspecifiedMatching OMIM:607489 CUL9 skos:exactMatch ncbigene:23113 semapv:UnspecifiedMatching OMIM:607490 LDHD skos:exactMatch UMLS:C1426348 semapv:UnspecifiedMatching OMIM:607490 LDHD skos:exactMatch UMLS:C5193006 semapv:UnspecifiedMatching -OMIM:607490 LDHD skos:exactMatch hgnc:LDHD semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch hgnc.symbol:19708 semapv:UnspecifiedMatching +OMIM:607490 LDHD skos:exactMatch hgnc.symbol:LDHD semapv:UnspecifiedMatching OMIM:607490 LDHD skos:exactMatch ncbigene:197257 semapv:UnspecifiedMatching -OMIM:607491 POFUT1 skos:exactMatch hgnc:POFUT1 semapv:UnspecifiedMatching +OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:14988 semapv:UnspecifiedMatching +OMIM:607491 POFUT1 skos:exactMatch hgnc.symbol:POFUT1 semapv:UnspecifiedMatching OMIM:607491 POFUT1 skos:exactMatch ncbigene:23509 semapv:UnspecifiedMatching OMIM:607492 PACS1 skos:exactMatch UMLS:C1538563 semapv:UnspecifiedMatching OMIM:607492 PACS1 skos:exactMatch UMLS:C3554343 semapv:UnspecifiedMatching -OMIM:607492 PACS1 skos:exactMatch hgnc:PACS1 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:30032 semapv:UnspecifiedMatching +OMIM:607492 PACS1 skos:exactMatch hgnc.symbol:PACS1 semapv:UnspecifiedMatching OMIM:607492 PACS1 skos:exactMatch ncbigene:55690 semapv:UnspecifiedMatching -OMIM:607493 ING3 skos:exactMatch hgnc:ING3 semapv:UnspecifiedMatching +OMIM:607493 ING3 skos:exactMatch hgnc.symbol:14587 semapv:UnspecifiedMatching +OMIM:607493 ING3 skos:exactMatch hgnc.symbol:ING3 semapv:UnspecifiedMatching OMIM:607493 ING3 skos:exactMatch ncbigene:54556 semapv:UnspecifiedMatching -OMIM:607494 INPP4B skos:exactMatch hgnc:INPP4B semapv:UnspecifiedMatching +OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:6075 semapv:UnspecifiedMatching +OMIM:607494 INPP4B skos:exactMatch hgnc.symbol:INPP4B semapv:UnspecifiedMatching OMIM:607494 INPP4B skos:exactMatch ncbigene:8821 semapv:UnspecifiedMatching -OMIM:607496 NOSTRIN skos:exactMatch hgnc:NOSTRIN semapv:UnspecifiedMatching +OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:20203 semapv:UnspecifiedMatching +OMIM:607496 NOSTRIN skos:exactMatch hgnc.symbol:NOSTRIN semapv:UnspecifiedMatching OMIM:607496 NOSTRIN skos:exactMatch ncbigene:115677 semapv:UnspecifiedMatching -OMIM:607497 B3GAT2 skos:exactMatch hgnc:B3GAT2 semapv:UnspecifiedMatching +OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:922 semapv:UnspecifiedMatching +OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:B3GAT2 semapv:UnspecifiedMatching OMIM:607497 B3GAT2 skos:exactMatch ncbigene:135152 semapv:UnspecifiedMatching OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch UMLS:C1843782 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch UMLS:C1426351 semapv:UnspecifiedMatching -OMIM:607502 DISP1 skos:exactMatch hgnc:DISP1 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:19711 semapv:UnspecifiedMatching +OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:DISP1 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch ncbigene:84976 semapv:UnspecifiedMatching OMIM:607503 DISP2 skos:exactMatch UMLS:C1426352 semapv:UnspecifiedMatching -OMIM:607503 DISP2 skos:exactMatch hgnc:DISP2 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:19712 semapv:UnspecifiedMatching +OMIM:607503 DISP2 skos:exactMatch hgnc.symbol:DISP2 semapv:UnspecifiedMatching OMIM:607503 DISP2 skos:exactMatch ncbigene:85455 semapv:UnspecifiedMatching -OMIM:607505 PASK skos:exactMatch hgnc:PASK semapv:UnspecifiedMatching +OMIM:607505 PASK skos:exactMatch hgnc.symbol:17270 semapv:UnspecifiedMatching +OMIM:607505 PASK skos:exactMatch hgnc.symbol:PASK semapv:UnspecifiedMatching OMIM:607505 PASK skos:exactMatch ncbigene:23178 semapv:UnspecifiedMatching -OMIM:607506 ADAMTS14 skos:exactMatch hgnc:ADAMTS14 semapv:UnspecifiedMatching +OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:14899 semapv:UnspecifiedMatching +OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:ADAMTS14 semapv:UnspecifiedMatching OMIM:607506 ADAMTS14 skos:exactMatch ncbigene:140766 semapv:UnspecifiedMatching -OMIM:607509 ADAMTS15 skos:exactMatch hgnc:ADAMTS15 semapv:UnspecifiedMatching +OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:16305 semapv:UnspecifiedMatching +OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:ADAMTS15 semapv:UnspecifiedMatching OMIM:607509 ADAMTS15 skos:exactMatch ncbigene:170689 semapv:UnspecifiedMatching -OMIM:607510 ADAMTS16 skos:exactMatch hgnc:ADAMTS16 semapv:UnspecifiedMatching +OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:17108 semapv:UnspecifiedMatching +OMIM:607510 ADAMTS16 skos:exactMatch hgnc.symbol:ADAMTS16 semapv:UnspecifiedMatching OMIM:607510 ADAMTS16 skos:exactMatch ncbigene:170690 semapv:UnspecifiedMatching -OMIM:607511 ADAMTS17 skos:exactMatch hgnc:ADAMTS17 semapv:UnspecifiedMatching +OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:17109 semapv:UnspecifiedMatching +OMIM:607511 ADAMTS17 skos:exactMatch hgnc.symbol:ADAMTS17 semapv:UnspecifiedMatching OMIM:607511 ADAMTS17 skos:exactMatch ncbigene:170691 semapv:UnspecifiedMatching -OMIM:607512 ADAMTS18 skos:exactMatch hgnc:ADAMTS18 semapv:UnspecifiedMatching +OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:17110 semapv:UnspecifiedMatching +OMIM:607512 ADAMTS18 skos:exactMatch hgnc.symbol:ADAMTS18 semapv:UnspecifiedMatching OMIM:607512 ADAMTS18 skos:exactMatch ncbigene:170692 semapv:UnspecifiedMatching -OMIM:607513 ADAMTS19 skos:exactMatch hgnc:ADAMTS19 semapv:UnspecifiedMatching +OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:17111 semapv:UnspecifiedMatching +OMIM:607513 ADAMTS19 skos:exactMatch hgnc.symbol:ADAMTS19 semapv:UnspecifiedMatching OMIM:607513 ADAMTS19 skos:exactMatch ncbigene:171019 semapv:UnspecifiedMatching -OMIM:607515 PLAC8 skos:exactMatch hgnc:PLAC8 semapv:UnspecifiedMatching +OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:19254 semapv:UnspecifiedMatching +OMIM:607515 PLAC8 skos:exactMatch hgnc.symbol:PLAC8 semapv:UnspecifiedMatching OMIM:607515 PLAC8 skos:exactMatch ncbigene:51316 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843766 semapv:UnspecifiedMatching -OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch orphanet.ordo:569 semapv:UnspecifiedMatching -OMIM:607517 LILRA4 skos:exactMatch hgnc:LILRA4 semapv:UnspecifiedMatching +OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:15503 semapv:UnspecifiedMatching +OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:LILRA4 semapv:UnspecifiedMatching OMIM:607517 LILRA4 skos:exactMatch ncbigene:23547 semapv:UnspecifiedMatching -OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc:LRRC25 semapv:UnspecifiedMatching +OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:29806 semapv:UnspecifiedMatching +OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch hgnc.symbol:LRRC25 semapv:UnspecifiedMatching OMIM:607518 monocyte and plasmacytoid activated molecule skos:exactMatch ncbigene:126364 semapv:UnspecifiedMatching -OMIM:607519 PARP4 skos:exactMatch hgnc:PARP4 semapv:UnspecifiedMatching +OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:271 semapv:UnspecifiedMatching +OMIM:607519 PARP4 skos:exactMatch hgnc.symbol:PARP4 semapv:UnspecifiedMatching OMIM:607519 PARP4 skos:exactMatch ncbigene:143 semapv:UnspecifiedMatching -OMIM:607520 ZAR1 skos:exactMatch hgnc:ZAR1 semapv:UnspecifiedMatching +OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:20436 semapv:UnspecifiedMatching +OMIM:607520 ZAR1 skos:exactMatch hgnc.symbol:ZAR1 semapv:UnspecifiedMatching OMIM:607520 ZAR1 skos:exactMatch ncbigene:326340 semapv:UnspecifiedMatching OMIM:607521 HPS5 skos:exactMatch UMLS:C1424692 semapv:UnspecifiedMatching OMIM:607521 HPS5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching -OMIM:607521 HPS5 skos:exactMatch hgnc:HPS5 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:17022 semapv:UnspecifiedMatching +OMIM:607521 HPS5 skos:exactMatch hgnc.symbol:HPS5 semapv:UnspecifiedMatching OMIM:607521 HPS5 skos:exactMatch ncbigene:11234 semapv:UnspecifiedMatching OMIM:607522 HPS6 skos:exactMatch UMLS:C1425796 semapv:UnspecifiedMatching OMIM:607522 HPS6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching -OMIM:607522 HPS6 skos:exactMatch hgnc:HPS6 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:18817 semapv:UnspecifiedMatching +OMIM:607522 HPS6 skos:exactMatch hgnc.symbol:HPS6 semapv:UnspecifiedMatching OMIM:607522 HPS6 skos:exactMatch ncbigene:79803 semapv:UnspecifiedMatching -OMIM:607524 RNF39 skos:exactMatch hgnc:RNF39 semapv:UnspecifiedMatching +OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:18064 semapv:UnspecifiedMatching +OMIM:607524 RNF39 skos:exactMatch hgnc.symbol:RNF39 semapv:UnspecifiedMatching OMIM:607524 RNF39 skos:exactMatch ncbigene:80352 semapv:UnspecifiedMatching -OMIM:607525 POLR1H skos:exactMatch hgnc:POLR1H semapv:UnspecifiedMatching +OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:13182 semapv:UnspecifiedMatching +OMIM:607525 POLR1H skos:exactMatch hgnc.symbol:POLR1H semapv:UnspecifiedMatching OMIM:607525 POLR1H skos:exactMatch ncbigene:30834 semapv:UnspecifiedMatching -OMIM:607526 RPL27 skos:exactMatch hgnc:RPL27 semapv:UnspecifiedMatching +OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:10328 semapv:UnspecifiedMatching +OMIM:607526 RPL27 skos:exactMatch hgnc.symbol:RPL27 semapv:UnspecifiedMatching OMIM:607526 RPL27 skos:exactMatch ncbigene:6155 semapv:UnspecifiedMatching OMIM:607527 PTBP3 skos:exactMatch UMLS:C1419599 semapv:UnspecifiedMatching -OMIM:607527 PTBP3 skos:exactMatch hgnc:PTBP3 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:10253 semapv:UnspecifiedMatching +OMIM:607527 PTBP3 skos:exactMatch hgnc.symbol:PTBP3 semapv:UnspecifiedMatching OMIM:607527 PTBP3 skos:exactMatch ncbigene:9991 semapv:UnspecifiedMatching -OMIM:607528 ROBO4 skos:exactMatch hgnc:ROBO4 semapv:UnspecifiedMatching +OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:17985 semapv:UnspecifiedMatching +OMIM:607528 ROBO4 skos:exactMatch hgnc.symbol:ROBO4 semapv:UnspecifiedMatching OMIM:607528 ROBO4 skos:exactMatch ncbigene:54538 semapv:UnspecifiedMatching -OMIM:607529 SARS1 skos:exactMatch hgnc:SARS1 semapv:UnspecifiedMatching +OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:10537 semapv:UnspecifiedMatching +OMIM:607529 SARS1 skos:exactMatch hgnc.symbol:SARS1 semapv:UnspecifiedMatching OMIM:607529 SARS1 skos:exactMatch ncbigene:6301 semapv:UnspecifiedMatching -OMIM:607530 HOXA11AS skos:exactMatch hgnc:HOXA11-AS semapv:UnspecifiedMatching +OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:24957 semapv:UnspecifiedMatching +OMIM:607530 HOXA11AS skos:exactMatch hgnc.symbol:HOXA11-AS semapv:UnspecifiedMatching OMIM:607530 HOXA11AS skos:exactMatch ncbigene:221883 semapv:UnspecifiedMatching -OMIM:607531 KLF12 skos:exactMatch hgnc:KLF12 semapv:UnspecifiedMatching +OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:6346 semapv:UnspecifiedMatching +OMIM:607531 KLF12 skos:exactMatch hgnc.symbol:KLF12 semapv:UnspecifiedMatching OMIM:607531 KLF12 skos:exactMatch ncbigene:11278 semapv:UnspecifiedMatching OMIM:607532 PIBF1 skos:exactMatch UMLS:C1539032 semapv:UnspecifiedMatching OMIM:607532 PIBF1 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching -OMIM:607532 PIBF1 skos:exactMatch hgnc:PIBF1 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:23352 semapv:UnspecifiedMatching +OMIM:607532 PIBF1 skos:exactMatch hgnc.symbol:PIBF1 semapv:UnspecifiedMatching OMIM:607532 PIBF1 skos:exactMatch ncbigene:10464 semapv:UnspecifiedMatching -OMIM:607533 DIS3 skos:exactMatch hgnc:DIS3 semapv:UnspecifiedMatching +OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:20604 semapv:UnspecifiedMatching +OMIM:607533 DIS3 skos:exactMatch hgnc.symbol:DIS3 semapv:UnspecifiedMatching OMIM:607533 DIS3 skos:exactMatch ncbigene:22894 semapv:UnspecifiedMatching -OMIM:607534 YAF2 skos:exactMatch hgnc:YAF2 semapv:UnspecifiedMatching +OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:17363 semapv:UnspecifiedMatching +OMIM:607534 YAF2 skos:exactMatch hgnc.symbol:YAF2 semapv:UnspecifiedMatching OMIM:607534 YAF2 skos:exactMatch ncbigene:10138 semapv:UnspecifiedMatching -OMIM:607535 RYBP skos:exactMatch hgnc:RYBP semapv:UnspecifiedMatching +OMIM:607535 RYBP skos:exactMatch hgnc.symbol:10480 semapv:UnspecifiedMatching +OMIM:607535 RYBP skos:exactMatch hgnc.symbol:RYBP semapv:UnspecifiedMatching OMIM:607535 RYBP skos:exactMatch ncbigene:23429 semapv:UnspecifiedMatching -OMIM:607536 CRTC1 skos:exactMatch hgnc:CRTC1 semapv:UnspecifiedMatching +OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:16062 semapv:UnspecifiedMatching +OMIM:607536 CRTC1 skos:exactMatch hgnc.symbol:CRTC1 semapv:UnspecifiedMatching OMIM:607536 CRTC1 skos:exactMatch ncbigene:23373 semapv:UnspecifiedMatching -OMIM:607537 MAML2 skos:exactMatch hgnc:MAML2 semapv:UnspecifiedMatching +OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:16259 semapv:UnspecifiedMatching +OMIM:607537 MAML2 skos:exactMatch hgnc.symbol:MAML2 semapv:UnspecifiedMatching OMIM:607537 MAML2 skos:exactMatch ncbigene:84441 semapv:UnspecifiedMatching -OMIM:607538 NDEL1 skos:exactMatch hgnc:NDEL1 semapv:UnspecifiedMatching +OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:17620 semapv:UnspecifiedMatching +OMIM:607538 NDEL1 skos:exactMatch hgnc.symbol:NDEL1 semapv:UnspecifiedMatching OMIM:607538 NDEL1 skos:exactMatch ncbigene:81565 semapv:UnspecifiedMatching +OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch Orphanet:98963 semapv:UnspecifiedMatching OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch UMLS:C1275685 semapv:UnspecifiedMatching -OMIM:607541 corneal dystrophy, avellino iia skos:exactMatch orphanet.ordo:98963 semapv:UnspecifiedMatching -OMIM:607542 KCNQ1 skos:exactMatch hgnc:KCNQ1 semapv:UnspecifiedMatching +OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:6294 semapv:UnspecifiedMatching +OMIM:607542 KCNQ1 skos:exactMatch hgnc.symbol:KCNQ1 semapv:UnspecifiedMatching OMIM:607542 KCNQ1 skos:exactMatch ncbigene:3784 semapv:UnspecifiedMatching OMIM:607544 LRPPRC skos:exactMatch UMLS:C1423677 semapv:UnspecifiedMatching OMIM:607544 LRPPRC skos:exactMatch UMLS:C1857355 semapv:UnspecifiedMatching -OMIM:607544 LRPPRC skos:exactMatch hgnc:LRPPRC semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:15714 semapv:UnspecifiedMatching +OMIM:607544 LRPPRC skos:exactMatch hgnc.symbol:LRPPRC semapv:UnspecifiedMatching OMIM:607544 LRPPRC skos:exactMatch ncbigene:10128 semapv:UnspecifiedMatching -OMIM:607545 MSMO1 skos:exactMatch hgnc:MSMO1 semapv:UnspecifiedMatching +OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:10545 semapv:UnspecifiedMatching +OMIM:607545 MSMO1 skos:exactMatch hgnc.symbol:MSMO1 semapv:UnspecifiedMatching OMIM:607545 MSMO1 skos:exactMatch ncbigene:6307 semapv:UnspecifiedMatching -OMIM:607546 CD200R1 skos:exactMatch hgnc:CD200R1 semapv:UnspecifiedMatching +OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:24235 semapv:UnspecifiedMatching +OMIM:607546 CD200R1 skos:exactMatch hgnc.symbol:CD200R1 semapv:UnspecifiedMatching OMIM:607546 CD200R1 skos:exactMatch ncbigene:131450 semapv:UnspecifiedMatching -OMIM:607547 RPL39L skos:exactMatch hgnc:RPL39L semapv:UnspecifiedMatching +OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:17094 semapv:UnspecifiedMatching +OMIM:607547 RPL39L skos:exactMatch hgnc.symbol:RPL39L semapv:UnspecifiedMatching OMIM:607547 RPL39L skos:exactMatch ncbigene:116832 semapv:UnspecifiedMatching -OMIM:607548 RSPH6A skos:exactMatch hgnc:RSPH6A semapv:UnspecifiedMatching +OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:14241 semapv:UnspecifiedMatching +OMIM:607548 RSPH6A skos:exactMatch hgnc.symbol:RSPH6A semapv:UnspecifiedMatching OMIM:607548 RSPH6A skos:exactMatch ncbigene:81492 semapv:UnspecifiedMatching -OMIM:607549 POTED skos:exactMatch hgnc:POTED semapv:UnspecifiedMatching +OMIM:607549 POTED skos:exactMatch hgnc.symbol:23822 semapv:UnspecifiedMatching +OMIM:607549 POTED skos:exactMatch hgnc.symbol:POTED semapv:UnspecifiedMatching OMIM:607549 POTED skos:exactMatch ncbigene:317754 semapv:UnspecifiedMatching -OMIM:607550 SLC16A10 skos:exactMatch hgnc:SLC16A10 semapv:UnspecifiedMatching +OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:17027 semapv:UnspecifiedMatching +OMIM:607550 SLC16A10 skos:exactMatch hgnc.symbol:SLC16A10 semapv:UnspecifiedMatching OMIM:607550 SLC16A10 skos:exactMatch ncbigene:117247 semapv:UnspecifiedMatching -OMIM:607551 SDF2L1 skos:exactMatch hgnc:SDF2L1 semapv:UnspecifiedMatching +OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:10676 semapv:UnspecifiedMatching +OMIM:607551 SDF2L1 skos:exactMatch hgnc.symbol:SDF2L1 semapv:UnspecifiedMatching OMIM:607551 SDF2L1 skos:exactMatch ncbigene:23753 semapv:UnspecifiedMatching -OMIM:607553 EPPK1 skos:exactMatch hgnc:EPPK1 semapv:UnspecifiedMatching +OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:15577 semapv:UnspecifiedMatching +OMIM:607553 EPPK1 skos:exactMatch hgnc.symbol:EPPK1 semapv:UnspecifiedMatching OMIM:607553 EPPK1 skos:exactMatch ncbigene:83481 semapv:UnspecifiedMatching -OMIM:607555 TOR3A skos:exactMatch hgnc:TOR3A semapv:UnspecifiedMatching +OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:11997 semapv:UnspecifiedMatching +OMIM:607555 TOR3A skos:exactMatch hgnc.symbol:TOR3A semapv:UnspecifiedMatching OMIM:607555 TOR3A skos:exactMatch ncbigene:64222 semapv:UnspecifiedMatching -OMIM:607556 TWIST2 skos:exactMatch hgnc:TWIST2 semapv:UnspecifiedMatching +OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:20670 semapv:UnspecifiedMatching +OMIM:607556 TWIST2 skos:exactMatch hgnc.symbol:TWIST2 semapv:UnspecifiedMatching OMIM:607556 TWIST2 skos:exactMatch ncbigene:117581 semapv:UnspecifiedMatching -OMIM:607557 SLC17A8 skos:exactMatch hgnc:SLC17A8 semapv:UnspecifiedMatching +OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:20151 semapv:UnspecifiedMatching +OMIM:607557 SLC17A8 skos:exactMatch hgnc.symbol:SLC17A8 semapv:UnspecifiedMatching OMIM:607557 SLC17A8 skos:exactMatch ncbigene:246213 semapv:UnspecifiedMatching -OMIM:607558 SEC14L2 skos:exactMatch hgnc:SEC14L2 semapv:UnspecifiedMatching +OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:10699 semapv:UnspecifiedMatching +OMIM:607558 SEC14L2 skos:exactMatch hgnc.symbol:SEC14L2 semapv:UnspecifiedMatching OMIM:607558 SEC14L2 skos:exactMatch ncbigene:23541 semapv:UnspecifiedMatching -OMIM:607559 MGRN1 skos:exactMatch hgnc:MGRN1 semapv:UnspecifiedMatching +OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:20254 semapv:UnspecifiedMatching +OMIM:607559 MGRN1 skos:exactMatch hgnc.symbol:MGRN1 semapv:UnspecifiedMatching OMIM:607559 MGRN1 skos:exactMatch ncbigene:23295 semapv:UnspecifiedMatching -OMIM:607560 ARHGEF2 skos:exactMatch hgnc:ARHGEF2 semapv:UnspecifiedMatching +OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:682 semapv:UnspecifiedMatching +OMIM:607560 ARHGEF2 skos:exactMatch hgnc.symbol:ARHGEF2 semapv:UnspecifiedMatching OMIM:607560 ARHGEF2 skos:exactMatch ncbigene:9181 semapv:UnspecifiedMatching -OMIM:607562 IL23R skos:exactMatch hgnc:IL23R semapv:UnspecifiedMatching +OMIM:607562 IL23R skos:exactMatch hgnc.symbol:19100 semapv:UnspecifiedMatching +OMIM:607562 IL23R skos:exactMatch hgnc.symbol:IL23R semapv:UnspecifiedMatching OMIM:607562 IL23R skos:exactMatch ncbigene:149233 semapv:UnspecifiedMatching -OMIM:607563 SLC17A6 skos:exactMatch hgnc:SLC17A6 semapv:UnspecifiedMatching +OMIM:607563 SLC17A6 skos:exactMatch hgnc.symbol:16703 semapv:UnspecifiedMatching +OMIM:607563 SLC17A6 skos:exactMatch hgnc.symbol:SLC17A6 semapv:UnspecifiedMatching OMIM:607563 SLC17A6 skos:exactMatch ncbigene:57084 semapv:UnspecifiedMatching -OMIM:607564 TRIM6 skos:exactMatch hgnc:TRIM6 semapv:UnspecifiedMatching +OMIM:607564 TRIM6 skos:exactMatch hgnc.symbol:16277 semapv:UnspecifiedMatching +OMIM:607564 TRIM6 skos:exactMatch hgnc.symbol:TRIM6 semapv:UnspecifiedMatching OMIM:607564 TRIM6 skos:exactMatch ncbigene:117854 semapv:UnspecifiedMatching -OMIM:607566 EPM2A skos:exactMatch hgnc:EPM2A semapv:UnspecifiedMatching +OMIM:607566 EPM2A skos:exactMatch hgnc.symbol:3413 semapv:UnspecifiedMatching +OMIM:607566 EPM2A skos:exactMatch hgnc.symbol:EPM2A semapv:UnspecifiedMatching OMIM:607566 EPM2A skos:exactMatch ncbigene:7957 semapv:UnspecifiedMatching -OMIM:607567 OLFM3 skos:exactMatch hgnc:OLFM3 semapv:UnspecifiedMatching +OMIM:607567 OLFM3 skos:exactMatch hgnc.symbol:17990 semapv:UnspecifiedMatching +OMIM:607567 OLFM3 skos:exactMatch hgnc.symbol:OLFM3 semapv:UnspecifiedMatching OMIM:607567 OLFM3 skos:exactMatch ncbigene:118427 semapv:UnspecifiedMatching -OMIM:607568 MMAB skos:exactMatch hgnc:MMAB semapv:UnspecifiedMatching +OMIM:607568 MMAB skos:exactMatch hgnc.symbol:19331 semapv:UnspecifiedMatching +OMIM:607568 MMAB skos:exactMatch hgnc.symbol:MMAB semapv:UnspecifiedMatching OMIM:607568 MMAB skos:exactMatch ncbigene:326625 semapv:UnspecifiedMatching OMIM:607570 DHX40 skos:exactMatch UMLS:C1425244 semapv:UnspecifiedMatching -OMIM:607570 DHX40 skos:exactMatch hgnc:DHX40 semapv:UnspecifiedMatching +OMIM:607570 DHX40 skos:exactMatch hgnc.symbol:18018 semapv:UnspecifiedMatching +OMIM:607570 DHX40 skos:exactMatch hgnc.symbol:DHX40 semapv:UnspecifiedMatching OMIM:607570 DHX40 skos:exactMatch ncbigene:79665 semapv:UnspecifiedMatching OMIM:607571 SLC25A21 skos:exactMatch UMLS:C1422630 semapv:UnspecifiedMatching OMIM:607571 SLC25A21 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching -OMIM:607571 SLC25A21 skos:exactMatch hgnc:SLC25A21 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch hgnc.symbol:14411 semapv:UnspecifiedMatching +OMIM:607571 SLC25A21 skos:exactMatch hgnc.symbol:SLC25A21 semapv:UnspecifiedMatching OMIM:607571 SLC25A21 skos:exactMatch ncbigene:89874 semapv:UnspecifiedMatching -OMIM:607573 MAP1S skos:exactMatch hgnc:MAP1S semapv:UnspecifiedMatching +OMIM:607573 MAP1S skos:exactMatch hgnc.symbol:15715 semapv:UnspecifiedMatching +OMIM:607573 MAP1S skos:exactMatch hgnc.symbol:MAP1S semapv:UnspecifiedMatching OMIM:607573 MAP1S skos:exactMatch ncbigene:55201 semapv:UnspecifiedMatching -OMIM:607574 ARSA skos:exactMatch hgnc:ARSA semapv:UnspecifiedMatching +OMIM:607574 ARSA skos:exactMatch hgnc.symbol:713 semapv:UnspecifiedMatching +OMIM:607574 ARSA skos:exactMatch hgnc.symbol:ARSA semapv:UnspecifiedMatching OMIM:607574 ARSA skos:exactMatch ncbigene:410 semapv:UnspecifiedMatching -OMIM:607575 ADA2 skos:exactMatch hgnc:ADA2 semapv:UnspecifiedMatching +OMIM:607575 ADA2 skos:exactMatch hgnc.symbol:1839 semapv:UnspecifiedMatching +OMIM:607575 ADA2 skos:exactMatch hgnc.symbol:ADA2 semapv:UnspecifiedMatching OMIM:607575 ADA2 skos:exactMatch ncbigene:51816 semapv:UnspecifiedMatching -OMIM:607576 CECR2 skos:exactMatch hgnc:CECR2 semapv:UnspecifiedMatching +OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:1840 semapv:UnspecifiedMatching +OMIM:607576 CECR2 skos:exactMatch hgnc.symbol:CECR2 semapv:UnspecifiedMatching OMIM:607576 CECR2 skos:exactMatch ncbigene:27443 semapv:UnspecifiedMatching -OMIM:607577 ENTPD4 skos:exactMatch hgnc:ENTPD4 semapv:UnspecifiedMatching +OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:14573 semapv:UnspecifiedMatching +OMIM:607577 ENTPD4 skos:exactMatch hgnc.symbol:ENTPD4 semapv:UnspecifiedMatching OMIM:607577 ENTPD4 skos:exactMatch ncbigene:9583 semapv:UnspecifiedMatching -OMIM:607579 SLC22A9 skos:exactMatch hgnc:SLC22A9 semapv:UnspecifiedMatching +OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:16261 semapv:UnspecifiedMatching +OMIM:607579 SLC22A9 skos:exactMatch hgnc.symbol:SLC22A9 semapv:UnspecifiedMatching OMIM:607579 SLC22A9 skos:exactMatch ncbigene:114571 semapv:UnspecifiedMatching -OMIM:607580 SLC22A10 skos:exactMatch hgnc:SLC22A10 semapv:UnspecifiedMatching +OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:18057 semapv:UnspecifiedMatching +OMIM:607580 SLC22A10 skos:exactMatch hgnc.symbol:SLC22A10 semapv:UnspecifiedMatching OMIM:607580 SLC22A10 skos:exactMatch ncbigene:387775 semapv:UnspecifiedMatching -OMIM:607581 SLC22A8 skos:exactMatch hgnc:SLC22A8 semapv:UnspecifiedMatching +OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:10972 semapv:UnspecifiedMatching +OMIM:607581 SLC22A8 skos:exactMatch hgnc.symbol:SLC22A8 semapv:UnspecifiedMatching OMIM:607581 SLC22A8 skos:exactMatch ncbigene:9376 semapv:UnspecifiedMatching -OMIM:607582 SLC22A6 skos:exactMatch hgnc:SLC22A6 semapv:UnspecifiedMatching +OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:10970 semapv:UnspecifiedMatching +OMIM:607582 SLC22A6 skos:exactMatch hgnc.symbol:SLC22A6 semapv:UnspecifiedMatching OMIM:607582 SLC22A6 skos:exactMatch ncbigene:9356 semapv:UnspecifiedMatching -OMIM:607583 PEX11G skos:exactMatch hgnc:PEX11G semapv:UnspecifiedMatching +OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:20208 semapv:UnspecifiedMatching +OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:PEX11G semapv:UnspecifiedMatching OMIM:607583 PEX11G skos:exactMatch ncbigene:92960 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching @@ -23774,64 +32925,93 @@ OMIM:607585 ATM skos:exactMatch UMLS:C4017102 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4017103 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4017104 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C4721414 semapv:UnspecifiedMatching -OMIM:607585 ATM skos:exactMatch hgnc:ATM semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch hgnc.symbol:795 semapv:UnspecifiedMatching +OMIM:607585 ATM skos:exactMatch hgnc.symbol:ATM semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch ncbigene:472 semapv:UnspecifiedMatching -OMIM:607586 CARF skos:exactMatch hgnc:CARF semapv:UnspecifiedMatching +OMIM:607586 CARF skos:exactMatch hgnc.symbol:14435 semapv:UnspecifiedMatching +OMIM:607586 CARF skos:exactMatch hgnc.symbol:CARF semapv:UnspecifiedMatching OMIM:607586 CARF skos:exactMatch ncbigene:79800 semapv:UnspecifiedMatching -OMIM:607587 IL17D skos:exactMatch hgnc:IL17D semapv:UnspecifiedMatching +OMIM:607587 IL17D skos:exactMatch hgnc.symbol:5984 semapv:UnspecifiedMatching +OMIM:607587 IL17D skos:exactMatch hgnc.symbol:IL17D semapv:UnspecifiedMatching OMIM:607587 IL17D skos:exactMatch ncbigene:53342 semapv:UnspecifiedMatching -OMIM:607588 PPIL2 skos:exactMatch hgnc:PPIL2 semapv:UnspecifiedMatching +OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:9261 semapv:UnspecifiedMatching +OMIM:607588 PPIL2 skos:exactMatch hgnc.symbol:PPIL2 semapv:UnspecifiedMatching OMIM:607588 PPIL2 skos:exactMatch ncbigene:23759 semapv:UnspecifiedMatching -OMIM:607589 SGK2 skos:exactMatch hgnc:SGK2 semapv:UnspecifiedMatching +OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:13900 semapv:UnspecifiedMatching +OMIM:607589 SGK2 skos:exactMatch hgnc.symbol:SGK2 semapv:UnspecifiedMatching OMIM:607589 SGK2 skos:exactMatch ncbigene:10110 semapv:UnspecifiedMatching -OMIM:607590 BBS7 skos:exactMatch hgnc:BBS7 semapv:UnspecifiedMatching +OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:18758 semapv:UnspecifiedMatching +OMIM:607590 BBS7 skos:exactMatch hgnc.symbol:BBS7 semapv:UnspecifiedMatching OMIM:607590 BBS7 skos:exactMatch ncbigene:55212 semapv:UnspecifiedMatching -OMIM:607591 SGK3 skos:exactMatch hgnc:SGK3 semapv:UnspecifiedMatching +OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:10812 semapv:UnspecifiedMatching +OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:SGK3 semapv:UnspecifiedMatching OMIM:607591 SGK3 skos:exactMatch ncbigene:23678 semapv:UnspecifiedMatching -OMIM:607593 MDC1 skos:exactMatch hgnc:MDC1 semapv:UnspecifiedMatching +OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:21163 semapv:UnspecifiedMatching +OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:MDC1 semapv:UnspecifiedMatching OMIM:607593 MDC1 skos:exactMatch ncbigene:9656 semapv:UnspecifiedMatching -OMIM:607599 RDH10 skos:exactMatch hgnc:RDH10 semapv:UnspecifiedMatching +OMIM:607599 RDH10 skos:exactMatch hgnc.symbol:19975 semapv:UnspecifiedMatching +OMIM:607599 RDH10 skos:exactMatch hgnc.symbol:RDH10 semapv:UnspecifiedMatching OMIM:607599 RDH10 skos:exactMatch ncbigene:157506 semapv:UnspecifiedMatching -OMIM:607601 TICAM1 skos:exactMatch hgnc:TICAM1 semapv:UnspecifiedMatching +OMIM:607601 TICAM1 skos:exactMatch hgnc.symbol:18348 semapv:UnspecifiedMatching +OMIM:607601 TICAM1 skos:exactMatch hgnc.symbol:TICAM1 semapv:UnspecifiedMatching OMIM:607601 TICAM1 skos:exactMatch ncbigene:148022 semapv:UnspecifiedMatching -OMIM:607603 KCNG4 skos:exactMatch hgnc:KCNG4 semapv:UnspecifiedMatching +OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:19697 semapv:UnspecifiedMatching +OMIM:607603 KCNG4 skos:exactMatch hgnc.symbol:KCNG4 semapv:UnspecifiedMatching OMIM:607603 KCNG4 skos:exactMatch ncbigene:93107 semapv:UnspecifiedMatching -OMIM:607604 KCNV2 skos:exactMatch hgnc:KCNV2 semapv:UnspecifiedMatching +OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:19698 semapv:UnspecifiedMatching +OMIM:607604 KCNV2 skos:exactMatch hgnc.symbol:KCNV2 semapv:UnspecifiedMatching OMIM:607604 KCNV2 skos:exactMatch ncbigene:169522 semapv:UnspecifiedMatching -OMIM:607605 GSTA5 skos:exactMatch hgnc:GSTA5 semapv:UnspecifiedMatching +OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:19662 semapv:UnspecifiedMatching +OMIM:607605 GSTA5 skos:exactMatch hgnc.symbol:GSTA5 semapv:UnspecifiedMatching OMIM:607605 GSTA5 skos:exactMatch ncbigene:221357 semapv:UnspecifiedMatching -OMIM:607606 KRT9 skos:exactMatch hgnc:KRT9 semapv:UnspecifiedMatching +OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:6447 semapv:UnspecifiedMatching +OMIM:607606 KRT9 skos:exactMatch hgnc.symbol:KRT9 semapv:UnspecifiedMatching OMIM:607606 KRT9 skos:exactMatch ncbigene:3857 semapv:UnspecifiedMatching -OMIM:607607 NUP54 skos:exactMatch hgnc:NUP54 semapv:UnspecifiedMatching +OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:17359 semapv:UnspecifiedMatching +OMIM:607607 NUP54 skos:exactMatch hgnc.symbol:NUP54 semapv:UnspecifiedMatching OMIM:607607 NUP54 skos:exactMatch ncbigene:53371 semapv:UnspecifiedMatching -OMIM:607608 SMPD1 skos:exactMatch hgnc:SMPD1 semapv:UnspecifiedMatching +OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:11120 semapv:UnspecifiedMatching +OMIM:607608 SMPD1 skos:exactMatch hgnc.symbol:SMPD1 semapv:UnspecifiedMatching OMIM:607608 SMPD1 skos:exactMatch ncbigene:6609 semapv:UnspecifiedMatching -OMIM:607609 PPIL4 skos:exactMatch hgnc:PPIL4 semapv:UnspecifiedMatching +OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:15702 semapv:UnspecifiedMatching +OMIM:607609 PPIL4 skos:exactMatch hgnc.symbol:PPIL4 semapv:UnspecifiedMatching OMIM:607609 PPIL4 skos:exactMatch ncbigene:85313 semapv:UnspecifiedMatching -OMIM:607610 PLSCR2 skos:exactMatch hgnc:PLSCR2 semapv:UnspecifiedMatching +OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:16494 semapv:UnspecifiedMatching +OMIM:607610 PLSCR2 skos:exactMatch hgnc.symbol:PLSCR2 semapv:UnspecifiedMatching OMIM:607610 PLSCR2 skos:exactMatch ncbigene:57047 semapv:UnspecifiedMatching -OMIM:607611 PLSCR3 skos:exactMatch hgnc:PLSCR3 semapv:UnspecifiedMatching +OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:16495 semapv:UnspecifiedMatching +OMIM:607611 PLSCR3 skos:exactMatch hgnc.symbol:PLSCR3 semapv:UnspecifiedMatching OMIM:607611 PLSCR3 skos:exactMatch ncbigene:57048 semapv:UnspecifiedMatching -OMIM:607612 PLSCR4 skos:exactMatch hgnc:PLSCR4 semapv:UnspecifiedMatching +OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:16497 semapv:UnspecifiedMatching +OMIM:607612 PLSCR4 skos:exactMatch hgnc.symbol:PLSCR4 semapv:UnspecifiedMatching OMIM:607612 PLSCR4 skos:exactMatch ncbigene:57088 semapv:UnspecifiedMatching -OMIM:607613 NUP133 skos:exactMatch hgnc:NUP133 semapv:UnspecifiedMatching +OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:18016 semapv:UnspecifiedMatching +OMIM:607613 NUP133 skos:exactMatch hgnc.symbol:NUP133 semapv:UnspecifiedMatching OMIM:607613 NUP133 skos:exactMatch ncbigene:55746 semapv:UnspecifiedMatching -OMIM:607614 NUP160 skos:exactMatch hgnc:NUP160 semapv:UnspecifiedMatching +OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:18017 semapv:UnspecifiedMatching +OMIM:607614 NUP160 skos:exactMatch hgnc.symbol:NUP160 semapv:UnspecifiedMatching OMIM:607614 NUP160 skos:exactMatch ncbigene:23279 semapv:UnspecifiedMatching -OMIM:607615 NUP58 skos:exactMatch hgnc:NUP58 semapv:UnspecifiedMatching +OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:20261 semapv:UnspecifiedMatching +OMIM:607615 NUP58 skos:exactMatch hgnc.symbol:NUP58 semapv:UnspecifiedMatching OMIM:607615 NUP58 skos:exactMatch ncbigene:9818 semapv:UnspecifiedMatching -OMIM:607617 NUP107 skos:exactMatch hgnc:NUP107 semapv:UnspecifiedMatching +OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:29914 semapv:UnspecifiedMatching +OMIM:607617 NUP107 skos:exactMatch hgnc.symbol:NUP107 semapv:UnspecifiedMatching OMIM:607617 NUP107 skos:exactMatch ncbigene:57122 semapv:UnspecifiedMatching OMIM:607618 DDX28 skos:exactMatch UMLS:C1424908 semapv:UnspecifiedMatching -OMIM:607618 DDX28 skos:exactMatch hgnc:DDX28 semapv:UnspecifiedMatching +OMIM:607618 DDX28 skos:exactMatch hgnc.symbol:17330 semapv:UnspecifiedMatching +OMIM:607618 DDX28 skos:exactMatch hgnc.symbol:DDX28 semapv:UnspecifiedMatching OMIM:607618 DDX28 skos:exactMatch ncbigene:55794 semapv:UnspecifiedMatching -OMIM:607619 FRMD3 skos:exactMatch hgnc:FRMD3 semapv:UnspecifiedMatching +OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:24125 semapv:UnspecifiedMatching +OMIM:607619 FRMD3 skos:exactMatch hgnc.symbol:FRMD3 semapv:UnspecifiedMatching OMIM:607619 FRMD3 skos:exactMatch ncbigene:257019 semapv:UnspecifiedMatching -OMIM:607620 COLEC10 skos:exactMatch hgnc:COLEC10 semapv:UnspecifiedMatching +OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:2220 semapv:UnspecifiedMatching +OMIM:607620 COLEC10 skos:exactMatch hgnc.symbol:COLEC10 semapv:UnspecifiedMatching OMIM:607620 COLEC10 skos:exactMatch ncbigene:10584 semapv:UnspecifiedMatching -OMIM:607621 COLEC12 skos:exactMatch hgnc:COLEC12 semapv:UnspecifiedMatching +OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:16016 semapv:UnspecifiedMatching +OMIM:607621 COLEC12 skos:exactMatch hgnc.symbol:COLEC12 semapv:UnspecifiedMatching OMIM:607621 COLEC12 skos:exactMatch ncbigene:81035 semapv:UnspecifiedMatching -OMIM:607622 PMVK skos:exactMatch hgnc:PMVK semapv:UnspecifiedMatching +OMIM:607622 PMVK skos:exactMatch hgnc.symbol:9141 semapv:UnspecifiedMatching +OMIM:607622 PMVK skos:exactMatch hgnc.symbol:PMVK semapv:UnspecifiedMatching OMIM:607622 PMVK skos:exactMatch ncbigene:10654 semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch UMLS:C0268247 semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch UMLS:C1417776 semapv:UnspecifiedMatching @@ -23839,401 +33019,566 @@ OMIM:607623 NPC1 skos:exactMatch UMLS:C3179455 semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch UMLS:C4017105 semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch UMLS:C4017106 semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch UMLS:C4017107 semapv:UnspecifiedMatching -OMIM:607623 NPC1 skos:exactMatch hgnc:NPC1 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch hgnc.symbol:7897 semapv:UnspecifiedMatching +OMIM:607623 NPC1 skos:exactMatch hgnc.symbol:NPC1 semapv:UnspecifiedMatching OMIM:607623 NPC1 skos:exactMatch ncbigene:4864 semapv:UnspecifiedMatching +OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch Orphanet:646 semapv:UnspecifiedMatching OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch UMLS:C1843366 semapv:UnspecifiedMatching -OMIM:607625 niemann-pick disease, iia c2 skos:exactMatch orphanet.ordo:646 semapv:UnspecifiedMatching -OMIM:607627 BPIFA4P skos:exactMatch hgnc:BPIFA4P semapv:UnspecifiedMatching +OMIM:607627 BPIFA4P skos:exactMatch hgnc.symbol:20469 semapv:UnspecifiedMatching +OMIM:607627 BPIFA4P skos:exactMatch hgnc.symbol:BPIFA4P semapv:UnspecifiedMatching OMIM:607627 BPIFA4P skos:exactMatch ncbigene:317716 semapv:UnspecifiedMatching OMIM:607629 APH1A skos:exactMatch UMLS:C1538913 semapv:UnspecifiedMatching -OMIM:607629 APH1A skos:exactMatch hgnc:APH1A semapv:UnspecifiedMatching +OMIM:607629 APH1A skos:exactMatch hgnc.symbol:29509 semapv:UnspecifiedMatching +OMIM:607629 APH1A skos:exactMatch hgnc.symbol:APH1A semapv:UnspecifiedMatching OMIM:607629 APH1A skos:exactMatch ncbigene:51107 semapv:UnspecifiedMatching OMIM:607630 APH1B skos:exactMatch UMLS:C1538914 semapv:UnspecifiedMatching -OMIM:607630 APH1B skos:exactMatch hgnc:APH1B semapv:UnspecifiedMatching +OMIM:607630 APH1B skos:exactMatch hgnc.symbol:24080 semapv:UnspecifiedMatching +OMIM:607630 APH1B skos:exactMatch hgnc.symbol:APH1B semapv:UnspecifiedMatching OMIM:607630 APH1B skos:exactMatch ncbigene:83464 semapv:UnspecifiedMatching -OMIM:607632 PSENEN skos:exactMatch hgnc:PSENEN semapv:UnspecifiedMatching +OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:30100 semapv:UnspecifiedMatching +OMIM:607632 PSENEN skos:exactMatch hgnc.symbol:PSENEN semapv:UnspecifiedMatching OMIM:607632 PSENEN skos:exactMatch ncbigene:55851 semapv:UnspecifiedMatching -OMIM:607633 XDH skos:exactMatch hgnc:XDH semapv:UnspecifiedMatching +OMIM:607633 XDH skos:exactMatch hgnc.symbol:12805 semapv:UnspecifiedMatching +OMIM:607633 XDH skos:exactMatch hgnc.symbol:XDH semapv:UnspecifiedMatching OMIM:607633 XDH skos:exactMatch ncbigene:7498 semapv:UnspecifiedMatching OMIM:607635 CPA4 skos:exactMatch UMLS:C1423695 semapv:UnspecifiedMatching -OMIM:607635 CPA4 skos:exactMatch hgnc:CPA4 semapv:UnspecifiedMatching +OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:15740 semapv:UnspecifiedMatching +OMIM:607635 CPA4 skos:exactMatch hgnc.symbol:CPA4 semapv:UnspecifiedMatching OMIM:607635 CPA4 skos:exactMatch ncbigene:51200 semapv:UnspecifiedMatching -OMIM:607637 EMX2OS skos:exactMatch hgnc:EMX2OS semapv:UnspecifiedMatching +OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:18511 semapv:UnspecifiedMatching +OMIM:607637 EMX2OS skos:exactMatch hgnc.symbol:EMX2OS semapv:UnspecifiedMatching OMIM:607637 EMX2OS skos:exactMatch ncbigene:196047 semapv:UnspecifiedMatching -OMIM:607638 DCTD skos:exactMatch hgnc:DCTD semapv:UnspecifiedMatching +OMIM:607638 DCTD skos:exactMatch hgnc.symbol:2710 semapv:UnspecifiedMatching +OMIM:607638 DCTD skos:exactMatch hgnc.symbol:DCTD semapv:UnspecifiedMatching OMIM:607638 DCTD skos:exactMatch ncbigene:1635 semapv:UnspecifiedMatching -OMIM:607639 SSC4D skos:exactMatch hgnc:SSC4D semapv:UnspecifiedMatching +OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:14461 semapv:UnspecifiedMatching +OMIM:607639 SSC4D skos:exactMatch hgnc.symbol:SSC4D semapv:UnspecifiedMatching OMIM:607639 SSC4D skos:exactMatch ncbigene:136853 semapv:UnspecifiedMatching OMIM:607640 ATXN7 skos:exactMatch UMLS:C0752125 semapv:UnspecifiedMatching OMIM:607640 ATXN7 skos:exactMatch UMLS:C1538303 semapv:UnspecifiedMatching -OMIM:607640 ATXN7 skos:exactMatch hgnc:ATXN7 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:10560 semapv:UnspecifiedMatching +OMIM:607640 ATXN7 skos:exactMatch hgnc.symbol:ATXN7 semapv:UnspecifiedMatching OMIM:607640 ATXN7 skos:exactMatch ncbigene:6314 semapv:UnspecifiedMatching -OMIM:607642 RAI1 skos:exactMatch hgnc:RAI1 semapv:UnspecifiedMatching +OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:9834 semapv:UnspecifiedMatching +OMIM:607642 RAI1 skos:exactMatch hgnc.symbol:RAI1 semapv:UnspecifiedMatching OMIM:607642 RAI1 skos:exactMatch ncbigene:10743 semapv:UnspecifiedMatching -OMIM:607643 FSCN2 skos:exactMatch hgnc:FSCN2 semapv:UnspecifiedMatching +OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:3960 semapv:UnspecifiedMatching +OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:FSCN2 semapv:UnspecifiedMatching OMIM:607643 FSCN2 skos:exactMatch ncbigene:25794 semapv:UnspecifiedMatching -OMIM:607645 NSG1 skos:exactMatch hgnc:NSG1 semapv:UnspecifiedMatching +OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:18790 semapv:UnspecifiedMatching +OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:NSG1 semapv:UnspecifiedMatching OMIM:607645 NSG1 skos:exactMatch ncbigene:27065 semapv:UnspecifiedMatching OMIM:607646 ZBTB7B skos:exactMatch UMLS:C1538144 semapv:UnspecifiedMatching -OMIM:607646 ZBTB7B skos:exactMatch hgnc:ZBTB7B semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:18668 semapv:UnspecifiedMatching +OMIM:607646 ZBTB7B skos:exactMatch hgnc.symbol:ZBTB7B semapv:UnspecifiedMatching OMIM:607646 ZBTB7B skos:exactMatch ncbigene:51043 semapv:UnspecifiedMatching -OMIM:607647 PLVAP skos:exactMatch hgnc:PLVAP semapv:UnspecifiedMatching +OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:13635 semapv:UnspecifiedMatching +OMIM:607647 PLVAP skos:exactMatch hgnc.symbol:PLVAP semapv:UnspecifiedMatching OMIM:607647 PLVAP skos:exactMatch ncbigene:83483 semapv:UnspecifiedMatching -OMIM:607648 STK39 skos:exactMatch hgnc:STK39 semapv:UnspecifiedMatching +OMIM:607648 STK39 skos:exactMatch hgnc.symbol:17717 semapv:UnspecifiedMatching +OMIM:607648 STK39 skos:exactMatch hgnc.symbol:STK39 semapv:UnspecifiedMatching OMIM:607648 STK39 skos:exactMatch ncbigene:27347 semapv:UnspecifiedMatching -OMIM:607649 OSTM1 skos:exactMatch hgnc:OSTM1 semapv:UnspecifiedMatching +OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:21652 semapv:UnspecifiedMatching +OMIM:607649 OSTM1 skos:exactMatch hgnc.symbol:OSTM1 semapv:UnspecifiedMatching OMIM:607649 OSTM1 skos:exactMatch ncbigene:28962 semapv:UnspecifiedMatching -OMIM:607650 DEFB118 skos:exactMatch hgnc:DEFB118 semapv:UnspecifiedMatching +OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:16196 semapv:UnspecifiedMatching +OMIM:607650 DEFB118 skos:exactMatch hgnc.symbol:DEFB118 semapv:UnspecifiedMatching OMIM:607650 DEFB118 skos:exactMatch ncbigene:117285 semapv:UnspecifiedMatching -OMIM:607651 PLEKHB1 skos:exactMatch hgnc:PLEKHB1 semapv:UnspecifiedMatching +OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:19079 semapv:UnspecifiedMatching +OMIM:607651 PLEKHB1 skos:exactMatch hgnc.symbol:PLEKHB1 semapv:UnspecifiedMatching OMIM:607651 PLEKHB1 skos:exactMatch ncbigene:58473 semapv:UnspecifiedMatching -OMIM:607652 STK36 skos:exactMatch hgnc:STK36 semapv:UnspecifiedMatching +OMIM:607652 STK36 skos:exactMatch hgnc.symbol:17209 semapv:UnspecifiedMatching +OMIM:607652 STK36 skos:exactMatch hgnc.symbol:STK36 semapv:UnspecifiedMatching OMIM:607652 STK36 skos:exactMatch ncbigene:27148 semapv:UnspecifiedMatching -OMIM:607653 RHOJ skos:exactMatch hgnc:RHOJ semapv:UnspecifiedMatching +OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:688 semapv:UnspecifiedMatching +OMIM:607653 RHOJ skos:exactMatch hgnc.symbol:RHOJ semapv:UnspecifiedMatching OMIM:607653 RHOJ skos:exactMatch ncbigene:57381 semapv:UnspecifiedMatching OMIM:607657 CTH skos:exactMatch UMLS:C0220993 semapv:UnspecifiedMatching OMIM:607657 CTH skos:exactMatch UMLS:C1413792 semapv:UnspecifiedMatching OMIM:607657 CTH skos:exactMatch UMLS:C5436963 semapv:UnspecifiedMatching -OMIM:607657 CTH skos:exactMatch hgnc:CTH semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch hgnc.symbol:2501 semapv:UnspecifiedMatching +OMIM:607657 CTH skos:exactMatch hgnc.symbol:CTH semapv:UnspecifiedMatching OMIM:607657 CTH skos:exactMatch ncbigene:1491 semapv:UnspecifiedMatching -OMIM:607659 EAF2 skos:exactMatch hgnc:EAF2 semapv:UnspecifiedMatching +OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:23115 semapv:UnspecifiedMatching +OMIM:607659 EAF2 skos:exactMatch hgnc.symbol:EAF2 semapv:UnspecifiedMatching OMIM:607659 EAF2 skos:exactMatch ncbigene:55840 semapv:UnspecifiedMatching -OMIM:607660 TSSK3 skos:exactMatch hgnc:TSSK3 semapv:UnspecifiedMatching +OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:15473 semapv:UnspecifiedMatching +OMIM:607660 TSSK3 skos:exactMatch hgnc.symbol:TSSK3 semapv:UnspecifiedMatching OMIM:607660 TSSK3 skos:exactMatch ncbigene:81629 semapv:UnspecifiedMatching -OMIM:607662 SPATA2 skos:exactMatch hgnc:SPATA2 semapv:UnspecifiedMatching +OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:14681 semapv:UnspecifiedMatching +OMIM:607662 SPATA2 skos:exactMatch hgnc.symbol:SPATA2 semapv:UnspecifiedMatching OMIM:607662 SPATA2 skos:exactMatch ncbigene:9825 semapv:UnspecifiedMatching OMIM:607663 DDX25 skos:exactMatch UMLS:C1425718 semapv:UnspecifiedMatching -OMIM:607663 DDX25 skos:exactMatch hgnc:DDX25 semapv:UnspecifiedMatching +OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:18698 semapv:UnspecifiedMatching +OMIM:607663 DDX25 skos:exactMatch hgnc.symbol:DDX25 semapv:UnspecifiedMatching OMIM:607663 DDX25 skos:exactMatch ncbigene:29118 semapv:UnspecifiedMatching -OMIM:607664 GNS skos:exactMatch hgnc:GNS semapv:UnspecifiedMatching +OMIM:607664 GNS skos:exactMatch hgnc.symbol:4422 semapv:UnspecifiedMatching +OMIM:607664 GNS skos:exactMatch hgnc.symbol:GNS semapv:UnspecifiedMatching OMIM:607664 GNS skos:exactMatch ncbigene:2799 semapv:UnspecifiedMatching -OMIM:607666 ANGPTL5 skos:exactMatch hgnc:ANGPTL5 semapv:UnspecifiedMatching +OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:19705 semapv:UnspecifiedMatching +OMIM:607666 ANGPTL5 skos:exactMatch hgnc.symbol:ANGPTL5 semapv:UnspecifiedMatching OMIM:607666 ANGPTL5 skos:exactMatch ncbigene:253935 semapv:UnspecifiedMatching -OMIM:607667 CTNNA3 skos:exactMatch hgnc:CTNNA3 semapv:UnspecifiedMatching +OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:2511 semapv:UnspecifiedMatching +OMIM:607667 CTNNA3 skos:exactMatch hgnc.symbol:CTNNA3 semapv:UnspecifiedMatching OMIM:607667 CTNNA3 skos:exactMatch ncbigene:29119 semapv:UnspecifiedMatching OMIM:607668 ARL6IP4 skos:exactMatch UMLS:C1425285 semapv:UnspecifiedMatching -OMIM:607668 ARL6IP4 skos:exactMatch hgnc:ARL6IP4 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:18076 semapv:UnspecifiedMatching +OMIM:607668 ARL6IP4 skos:exactMatch hgnc.symbol:ARL6IP4 semapv:UnspecifiedMatching OMIM:607668 ARL6IP4 skos:exactMatch ncbigene:51329 semapv:UnspecifiedMatching OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C1824208 semapv:UnspecifiedMatching OMIM:607669 ARL6IP1 skos:exactMatch UMLS:C3810294 semapv:UnspecifiedMatching -OMIM:607669 ARL6IP1 skos:exactMatch hgnc:ARL6IP1 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:697 semapv:UnspecifiedMatching +OMIM:607669 ARL6IP1 skos:exactMatch hgnc.symbol:ARL6IP1 semapv:UnspecifiedMatching OMIM:607669 ARL6IP1 skos:exactMatch ncbigene:23204 semapv:UnspecifiedMatching -OMIM:607670 STK33 skos:exactMatch hgnc:STK33 semapv:UnspecifiedMatching +OMIM:607670 STK33 skos:exactMatch hgnc.symbol:14568 semapv:UnspecifiedMatching +OMIM:607670 STK33 skos:exactMatch hgnc.symbol:STK33 semapv:UnspecifiedMatching OMIM:607670 STK33 skos:exactMatch ncbigene:65975 semapv:UnspecifiedMatching -OMIM:607672 CLCF1 skos:exactMatch hgnc:CLCF1 semapv:UnspecifiedMatching +OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:17412 semapv:UnspecifiedMatching +OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:CLCF1 semapv:UnspecifiedMatching OMIM:607672 CLCF1 skos:exactMatch ncbigene:23529 semapv:UnspecifiedMatching -OMIM:607673 EDEM1 skos:exactMatch hgnc:EDEM1 semapv:UnspecifiedMatching +OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:18967 semapv:UnspecifiedMatching +OMIM:607673 EDEM1 skos:exactMatch hgnc.symbol:EDEM1 semapv:UnspecifiedMatching OMIM:607673 EDEM1 skos:exactMatch ncbigene:9695 semapv:UnspecifiedMatching -OMIM:607675 RCOR skos:exactMatch hgnc:RCOR1 semapv:UnspecifiedMatching +OMIM:607675 RCOR skos:exactMatch hgnc.symbol:17441 semapv:UnspecifiedMatching +OMIM:607675 RCOR skos:exactMatch hgnc.symbol:RCOR1 semapv:UnspecifiedMatching OMIM:607675 RCOR skos:exactMatch ncbigene:23186 semapv:UnspecifiedMatching +OMIM:607676 immunodeficiency 67 skos:exactMatch Orphanet:70592 semapv:UnspecifiedMatching OMIM:607676 immunodeficiency 67 skos:exactMatch UMLS:C1843256 semapv:UnspecifiedMatching -OMIM:607676 immunodeficiency 67 skos:exactMatch orphanet.ordo:70592 semapv:UnspecifiedMatching OMIM:607679 DOCK4 skos:exactMatch UMLS:C1426080 semapv:UnspecifiedMatching -OMIM:607679 DOCK4 skos:exactMatch hgnc:DOCK4 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:19192 semapv:UnspecifiedMatching +OMIM:607679 DOCK4 skos:exactMatch hgnc.symbol:DOCK4 semapv:UnspecifiedMatching OMIM:607679 DOCK4 skos:exactMatch ncbigene:9732 semapv:UnspecifiedMatching -OMIM:607680 ZNF363 skos:exactMatch hgnc:RCHY1 semapv:UnspecifiedMatching +OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:17479 semapv:UnspecifiedMatching +OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:RCHY1 semapv:UnspecifiedMatching OMIM:607680 ZNF363 skos:exactMatch ncbigene:25898 semapv:UnspecifiedMatching -OMIM:607686 FIP1L1 skos:exactMatch hgnc:FIP1L1 semapv:UnspecifiedMatching +OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:19124 semapv:UnspecifiedMatching +OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:FIP1L1 semapv:UnspecifiedMatching OMIM:607686 FIP1L1 skos:exactMatch ncbigene:81608 semapv:UnspecifiedMatching -OMIM:607690 SAR1B skos:exactMatch hgnc:SAR1B semapv:UnspecifiedMatching +OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:10535 semapv:UnspecifiedMatching +OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:SAR1B semapv:UnspecifiedMatching OMIM:607690 SAR1B skos:exactMatch ncbigene:51128 semapv:UnspecifiedMatching -OMIM:607691 SAR1A skos:exactMatch hgnc:SAR1A semapv:UnspecifiedMatching +OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:10534 semapv:UnspecifiedMatching +OMIM:607691 SAR1A skos:exactMatch hgnc.symbol:SAR1A semapv:UnspecifiedMatching OMIM:607691 SAR1A skos:exactMatch ncbigene:56681 semapv:UnspecifiedMatching -OMIM:607693 SECISBP2 skos:exactMatch hgnc:SECISBP2 semapv:UnspecifiedMatching +OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:30972 semapv:UnspecifiedMatching +OMIM:607693 SECISBP2 skos:exactMatch hgnc.symbol:SECISBP2 semapv:UnspecifiedMatching OMIM:607693 SECISBP2 skos:exactMatch ncbigene:79048 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:137639 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447893 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:447896 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:77295 semapv:UnspecifiedMatching +OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch Orphanet:88637 semapv:UnspecifiedMatching OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch UMLS:C2676243 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch orphanet.ordo:137639 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch orphanet.ordo:447893 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch orphanet.ordo:447896 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch orphanet.ordo:77295 semapv:UnspecifiedMatching -OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism skos:exactMatch orphanet.ordo:88637 semapv:UnspecifiedMatching -OMIM:607695 EEFSEC skos:exactMatch hgnc:EEFSEC semapv:UnspecifiedMatching +OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:24614 semapv:UnspecifiedMatching +OMIM:607695 EEFSEC skos:exactMatch hgnc.symbol:EEFSEC semapv:UnspecifiedMatching OMIM:607695 EEFSEC skos:exactMatch ncbigene:60678 semapv:UnspecifiedMatching -OMIM:607696 USH1G skos:exactMatch hgnc:USH1G semapv:UnspecifiedMatching +OMIM:607696 USH1G skos:exactMatch hgnc.symbol:16356 semapv:UnspecifiedMatching +OMIM:607696 USH1G skos:exactMatch hgnc.symbol:USH1G semapv:UnspecifiedMatching OMIM:607696 USH1G skos:exactMatch ncbigene:124590 semapv:UnspecifiedMatching -OMIM:607697 SBF2 skos:exactMatch hgnc:SBF2 semapv:UnspecifiedMatching +OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:2135 semapv:UnspecifiedMatching +OMIM:607697 SBF2 skos:exactMatch hgnc.symbol:SBF2 semapv:UnspecifiedMatching OMIM:607697 SBF2 skos:exactMatch ncbigene:81846 semapv:UnspecifiedMatching -OMIM:607698 LCOR skos:exactMatch hgnc:LCOR semapv:UnspecifiedMatching +OMIM:607698 LCOR skos:exactMatch hgnc.symbol:29503 semapv:UnspecifiedMatching +OMIM:607698 LCOR skos:exactMatch hgnc.symbol:LCOR semapv:UnspecifiedMatching OMIM:607698 LCOR skos:exactMatch ncbigene:84458 semapv:UnspecifiedMatching OMIM:607699 RNF20 skos:exactMatch UMLS:C1419420 semapv:UnspecifiedMatching -OMIM:607699 RNF20 skos:exactMatch hgnc:RNF20 semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:10062 semapv:UnspecifiedMatching +OMIM:607699 RNF20 skos:exactMatch hgnc.symbol:RNF20 semapv:UnspecifiedMatching OMIM:607699 RNF20 skos:exactMatch ncbigene:56254 semapv:UnspecifiedMatching -OMIM:607700 RNF40 skos:exactMatch hgnc:RNF40 semapv:UnspecifiedMatching +OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:16867 semapv:UnspecifiedMatching +OMIM:607700 RNF40 skos:exactMatch hgnc.symbol:RNF40 semapv:UnspecifiedMatching OMIM:607700 RNF40 skos:exactMatch ncbigene:9810 semapv:UnspecifiedMatching -OMIM:607701 KLHL41 skos:exactMatch hgnc:KLHL41 semapv:UnspecifiedMatching +OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:16905 semapv:UnspecifiedMatching +OMIM:607701 KLHL41 skos:exactMatch hgnc.symbol:KLHL41 semapv:UnspecifiedMatching OMIM:607701 KLHL41 skos:exactMatch ncbigene:10324 semapv:UnspecifiedMatching -OMIM:607702 TCIM skos:exactMatch hgnc:TCIM semapv:UnspecifiedMatching +OMIM:607702 TCIM skos:exactMatch hgnc.symbol:1357 semapv:UnspecifiedMatching +OMIM:607702 TCIM skos:exactMatch hgnc.symbol:TCIM semapv:UnspecifiedMatching OMIM:607702 TCIM skos:exactMatch ncbigene:56892 semapv:UnspecifiedMatching -OMIM:607703 NUP210 skos:exactMatch hgnc:NUP210 semapv:UnspecifiedMatching +OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:30052 semapv:UnspecifiedMatching +OMIM:607703 NUP210 skos:exactMatch hgnc.symbol:NUP210 semapv:UnspecifiedMatching OMIM:607703 NUP210 skos:exactMatch ncbigene:23225 semapv:UnspecifiedMatching -OMIM:607704 KANK1 skos:exactMatch hgnc:KANK1 semapv:UnspecifiedMatching +OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:19309 semapv:UnspecifiedMatching +OMIM:607704 KANK1 skos:exactMatch hgnc.symbol:KANK1 semapv:UnspecifiedMatching OMIM:607704 KANK1 skos:exactMatch ncbigene:23189 semapv:UnspecifiedMatching -OMIM:607705 PSME4 skos:exactMatch hgnc:PSME4 semapv:UnspecifiedMatching +OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:20635 semapv:UnspecifiedMatching +OMIM:607705 PSME4 skos:exactMatch hgnc.symbol:PSME4 semapv:UnspecifiedMatching OMIM:607705 PSME4 skos:exactMatch ncbigene:23198 semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch UMLS:C1413100 semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch UMLS:C4540484 semapv:UnspecifiedMatching -OMIM:607707 CAMK2B skos:exactMatch hgnc:CAMK2B semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:1461 semapv:UnspecifiedMatching +OMIM:607707 CAMK2B skos:exactMatch hgnc.symbol:CAMK2B semapv:UnspecifiedMatching OMIM:607707 CAMK2B skos:exactMatch ncbigene:816 semapv:UnspecifiedMatching -OMIM:607708 CAMK2D skos:exactMatch hgnc:CAMK2D semapv:UnspecifiedMatching +OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:1462 semapv:UnspecifiedMatching +OMIM:607708 CAMK2D skos:exactMatch hgnc.symbol:CAMK2D semapv:UnspecifiedMatching OMIM:607708 CAMK2D skos:exactMatch ncbigene:817 semapv:UnspecifiedMatching -OMIM:607709 TJP2 skos:exactMatch hgnc:TJP2 semapv:UnspecifiedMatching +OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:11828 semapv:UnspecifiedMatching +OMIM:607709 TJP2 skos:exactMatch hgnc.symbol:TJP2 semapv:UnspecifiedMatching OMIM:607709 TJP2 skos:exactMatch ncbigene:9414 semapv:UnspecifiedMatching -OMIM:607710 FAM189A2 skos:exactMatch hgnc:ENTREP1 semapv:UnspecifiedMatching -OMIM:607710 FAM189A2 skos:exactMatch ncbigene:9413 semapv:UnspecifiedMatching -OMIM:607711 DIP2A skos:exactMatch hgnc:DIP2A semapv:UnspecifiedMatching +OMIM:607710 ENTREP1 skos:exactMatch hgnc.symbol:ENTREP1 semapv:UnspecifiedMatching +OMIM:607710 ENTREP1 skos:exactMatch ncbigene:9413 semapv:UnspecifiedMatching +OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:17217 semapv:UnspecifiedMatching +OMIM:607711 DIP2A skos:exactMatch hgnc.symbol:DIP2A semapv:UnspecifiedMatching OMIM:607711 DIP2A skos:exactMatch ncbigene:23181 semapv:UnspecifiedMatching -OMIM:607712 HIC2 skos:exactMatch hgnc:HIC2 semapv:UnspecifiedMatching +OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:18595 semapv:UnspecifiedMatching +OMIM:607712 HIC2 skos:exactMatch hgnc.symbol:HIC2 semapv:UnspecifiedMatching OMIM:607712 HIC2 skos:exactMatch ncbigene:23119 semapv:UnspecifiedMatching -OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc:FGFBP2 semapv:UnspecifiedMatching +OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:29451 semapv:UnspecifiedMatching +OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch hgnc.symbol:FGFBP2 semapv:UnspecifiedMatching OMIM:607713 killer-specific secretory protein, 37-kd skos:exactMatch ncbigene:83888 semapv:UnspecifiedMatching -OMIM:607714 TNIP1 skos:exactMatch hgnc:TNIP1 semapv:UnspecifiedMatching +OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:16903 semapv:UnspecifiedMatching +OMIM:607714 TNIP1 skos:exactMatch hgnc.symbol:TNIP1 semapv:UnspecifiedMatching OMIM:607714 TNIP1 skos:exactMatch ncbigene:10318 semapv:UnspecifiedMatching -OMIM:607715 TSC22D1 skos:exactMatch hgnc:TSC22D1 semapv:UnspecifiedMatching +OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:16826 semapv:UnspecifiedMatching +OMIM:607715 TSC22D1 skos:exactMatch hgnc.symbol:TSC22D1 semapv:UnspecifiedMatching OMIM:607715 TSC22D1 skos:exactMatch ncbigene:8848 semapv:UnspecifiedMatching -OMIM:607716 SYT13 skos:exactMatch hgnc:SYT13 semapv:UnspecifiedMatching +OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:14962 semapv:UnspecifiedMatching +OMIM:607716 SYT13 skos:exactMatch hgnc.symbol:SYT13 semapv:UnspecifiedMatching OMIM:607716 SYT13 skos:exactMatch ncbigene:57586 semapv:UnspecifiedMatching -OMIM:607717 TNS2 skos:exactMatch hgnc:TNS2 semapv:UnspecifiedMatching +OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:19737 semapv:UnspecifiedMatching +OMIM:607717 TNS2 skos:exactMatch hgnc.symbol:TNS2 semapv:UnspecifiedMatching OMIM:607717 TNS2 skos:exactMatch ncbigene:23371 semapv:UnspecifiedMatching -OMIM:607718 SYT6 skos:exactMatch hgnc:SYT6 semapv:UnspecifiedMatching +OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:18638 semapv:UnspecifiedMatching +OMIM:607718 SYT6 skos:exactMatch hgnc.symbol:SYT6 semapv:UnspecifiedMatching OMIM:607718 SYT6 skos:exactMatch ncbigene:148281 semapv:UnspecifiedMatching -OMIM:607719 SYT8 skos:exactMatch hgnc:SYT8 semapv:UnspecifiedMatching +OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:19264 semapv:UnspecifiedMatching +OMIM:607719 SYT8 skos:exactMatch hgnc.symbol:SYT8 semapv:UnspecifiedMatching OMIM:607719 SYT8 skos:exactMatch ncbigene:90019 semapv:UnspecifiedMatching -OMIM:607720 TSNAXIP1 skos:exactMatch hgnc:TSNAXIP1 semapv:UnspecifiedMatching +OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:18586 semapv:UnspecifiedMatching +OMIM:607720 TSNAXIP1 skos:exactMatch hgnc.symbol:TSNAXIP1 semapv:UnspecifiedMatching OMIM:607720 TSNAXIP1 skos:exactMatch ncbigene:55815 semapv:UnspecifiedMatching +OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch Orphanet:2701 semapv:UnspecifiedMatching OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C1843181 semapv:UnspecifiedMatching OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch UMLS:C4478716 semapv:UnspecifiedMatching -OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch orphanet.ordo:2701 semapv:UnspecifiedMatching -OMIM:607722 EMC2 skos:exactMatch hgnc:EMC2 semapv:UnspecifiedMatching +OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:28963 semapv:UnspecifiedMatching +OMIM:607722 EMC2 skos:exactMatch hgnc.symbol:EMC2 semapv:UnspecifiedMatching OMIM:607722 EMC2 skos:exactMatch ncbigene:9694 semapv:UnspecifiedMatching OMIM:607723 SUN1 skos:exactMatch UMLS:C1425625 semapv:UnspecifiedMatching -OMIM:607723 SUN1 skos:exactMatch hgnc:SUN1 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:18587 semapv:UnspecifiedMatching +OMIM:607723 SUN1 skos:exactMatch hgnc.symbol:SUN1 semapv:UnspecifiedMatching OMIM:607723 SUN1 skos:exactMatch ncbigene:23353 semapv:UnspecifiedMatching -OMIM:607724 CAPS2 skos:exactMatch hgnc:CAPS2 semapv:UnspecifiedMatching +OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:16471 semapv:UnspecifiedMatching +OMIM:607724 CAPS2 skos:exactMatch hgnc.symbol:CAPS2 semapv:UnspecifiedMatching OMIM:607724 CAPS2 skos:exactMatch ncbigene:84698 semapv:UnspecifiedMatching OMIM:607725 PARP2 skos:exactMatch UMLS:C1538580 semapv:UnspecifiedMatching -OMIM:607725 PARP2 skos:exactMatch hgnc:PARP2 semapv:UnspecifiedMatching +OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:272 semapv:UnspecifiedMatching +OMIM:607725 PARP2 skos:exactMatch hgnc.symbol:PARP2 semapv:UnspecifiedMatching OMIM:607725 PARP2 skos:exactMatch ncbigene:10038 semapv:UnspecifiedMatching -OMIM:607726 PARP3 skos:exactMatch hgnc:PARP3 semapv:UnspecifiedMatching +OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:273 semapv:UnspecifiedMatching +OMIM:607726 PARP3 skos:exactMatch hgnc.symbol:PARP3 semapv:UnspecifiedMatching OMIM:607726 PARP3 skos:exactMatch ncbigene:10039 semapv:UnspecifiedMatching -OMIM:607727 CAND1 skos:exactMatch hgnc:CAND1 semapv:UnspecifiedMatching +OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:30688 semapv:UnspecifiedMatching +OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:CAND1 semapv:UnspecifiedMatching OMIM:607727 CAND1 skos:exactMatch ncbigene:55832 semapv:UnspecifiedMatching -OMIM:607729 DDIT4 skos:exactMatch hgnc:DDIT4 semapv:UnspecifiedMatching +OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:24944 semapv:UnspecifiedMatching +OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:DDIT4 semapv:UnspecifiedMatching OMIM:607729 DDIT4 skos:exactMatch ncbigene:54541 semapv:UnspecifiedMatching -OMIM:607730 DDIT4L skos:exactMatch hgnc:DDIT4L semapv:UnspecifiedMatching +OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:30555 semapv:UnspecifiedMatching +OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:DDIT4L semapv:UnspecifiedMatching OMIM:607730 DDIT4L skos:exactMatch ncbigene:115265 semapv:UnspecifiedMatching -OMIM:607732 SARM1 skos:exactMatch hgnc:SARM1 semapv:UnspecifiedMatching +OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:17074 semapv:UnspecifiedMatching +OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:SARM1 semapv:UnspecifiedMatching OMIM:607732 SARM1 skos:exactMatch ncbigene:23098 semapv:UnspecifiedMatching OMIM:607733 SCRIB skos:exactMatch UMLS:C1539732 semapv:UnspecifiedMatching -OMIM:607733 SCRIB skos:exactMatch hgnc:SCRIB semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:30377 semapv:UnspecifiedMatching +OMIM:607733 SCRIB skos:exactMatch hgnc.symbol:SCRIB semapv:UnspecifiedMatching OMIM:607733 SCRIB skos:exactMatch ncbigene:23513 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:101085 semapv:UnspecifiedMatching +OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch Orphanet:228374 semapv:UnspecifiedMatching OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch UMLS:C1843164 semapv:UnspecifiedMatching -OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch orphanet.ordo:101085 semapv:UnspecifiedMatching -OMIM:607734 charcot-marie-tooth disease, demyelinating, iia 1f skos:exactMatch orphanet.ordo:228374 semapv:UnspecifiedMatching OMIM:607735 PGRMC2 skos:exactMatch UMLS:C1423970 semapv:UnspecifiedMatching -OMIM:607735 PGRMC2 skos:exactMatch hgnc:PGRMC2 semapv:UnspecifiedMatching +OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:16089 semapv:UnspecifiedMatching +OMIM:607735 PGRMC2 skos:exactMatch hgnc.symbol:PGRMC2 semapv:UnspecifiedMatching OMIM:607735 PGRMC2 skos:exactMatch ncbigene:10424 semapv:UnspecifiedMatching -OMIM:607737 FGFBP1 skos:exactMatch hgnc:FGFBP1 semapv:UnspecifiedMatching +OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:19695 semapv:UnspecifiedMatching +OMIM:607737 FGFBP1 skos:exactMatch hgnc.symbol:FGFBP1 semapv:UnspecifiedMatching OMIM:607737 FGFBP1 skos:exactMatch ncbigene:9982 semapv:UnspecifiedMatching -OMIM:607738 KCNB2 skos:exactMatch hgnc:KCNB2 semapv:UnspecifiedMatching +OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:6232 semapv:UnspecifiedMatching +OMIM:607738 KCNB2 skos:exactMatch hgnc.symbol:KCNB2 semapv:UnspecifiedMatching OMIM:607738 KCNB2 skos:exactMatch ncbigene:9312 semapv:UnspecifiedMatching -OMIM:607740 USP32 skos:exactMatch hgnc:USP32 semapv:UnspecifiedMatching +OMIM:607740 USP32 skos:exactMatch hgnc.symbol:19143 semapv:UnspecifiedMatching +OMIM:607740 USP32 skos:exactMatch hgnc.symbol:USP32 semapv:UnspecifiedMatching OMIM:607740 USP32 skos:exactMatch ncbigene:84669 semapv:UnspecifiedMatching -OMIM:607741 TBC1D3 skos:exactMatch hgnc:TBC1D3 semapv:UnspecifiedMatching +OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:19031 semapv:UnspecifiedMatching +OMIM:607741 TBC1D3 skos:exactMatch hgnc.symbol:TBC1D3 semapv:UnspecifiedMatching OMIM:607741 TBC1D3 skos:exactMatch ncbigene:729873 semapv:UnspecifiedMatching -OMIM:607742 KRT24 skos:exactMatch hgnc:KRT24 semapv:UnspecifiedMatching +OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:18527 semapv:UnspecifiedMatching +OMIM:607742 KRT24 skos:exactMatch hgnc.symbol:KRT24 semapv:UnspecifiedMatching OMIM:607742 KRT24 skos:exactMatch ncbigene:192666 semapv:UnspecifiedMatching -OMIM:607743 FRS2 skos:exactMatch hgnc:FRS2 semapv:UnspecifiedMatching +OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:16971 semapv:UnspecifiedMatching +OMIM:607743 FRS2 skos:exactMatch hgnc.symbol:FRS2 semapv:UnspecifiedMatching OMIM:607743 FRS2 skos:exactMatch ncbigene:10818 semapv:UnspecifiedMatching -OMIM:607744 FRS3 skos:exactMatch hgnc:FRS3 semapv:UnspecifiedMatching +OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:16970 semapv:UnspecifiedMatching +OMIM:607744 FRS3 skos:exactMatch hgnc.symbol:FRS3 semapv:UnspecifiedMatching OMIM:607744 FRS3 skos:exactMatch ncbigene:10817 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 semapv:UnspecifiedMatching +OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch UMLS:C1843140 semapv:UnspecifiedMatching -OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch orphanet.ordo:140927 semapv:UnspecifiedMatching -OMIM:607745 seizures, benign familial infantile, 3 skos:exactMatch orphanet.ordo:306 semapv:UnspecifiedMatching -OMIM:607746 FERMT2 skos:exactMatch hgnc:FERMT2 semapv:UnspecifiedMatching +OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:15767 semapv:UnspecifiedMatching +OMIM:607746 FERMT2 skos:exactMatch hgnc.symbol:FERMT2 semapv:UnspecifiedMatching OMIM:607746 FERMT2 skos:exactMatch ncbigene:10979 semapv:UnspecifiedMatching -OMIM:607747 FBLIM1 skos:exactMatch hgnc:FBLIM1 semapv:UnspecifiedMatching +OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:24686 semapv:UnspecifiedMatching +OMIM:607747 FBLIM1 skos:exactMatch hgnc.symbol:FBLIM1 semapv:UnspecifiedMatching OMIM:607747 FBLIM1 skos:exactMatch ncbigene:54751 semapv:UnspecifiedMatching -OMIM:607749 CDCA3 skos:exactMatch hgnc:CDCA3 semapv:UnspecifiedMatching +OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:14624 semapv:UnspecifiedMatching +OMIM:607749 CDCA3 skos:exactMatch hgnc.symbol:CDCA3 semapv:UnspecifiedMatching OMIM:607749 CDCA3 skos:exactMatch ncbigene:83461 semapv:UnspecifiedMatching -OMIM:607750 APOBEC3C skos:exactMatch hgnc:APOBEC3C semapv:UnspecifiedMatching +OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:17353 semapv:UnspecifiedMatching +OMIM:607750 APOBEC3C skos:exactMatch hgnc.symbol:APOBEC3C semapv:UnspecifiedMatching OMIM:607750 APOBEC3C skos:exactMatch ncbigene:27350 semapv:UnspecifiedMatching -OMIM:607751 TAS2R38 skos:exactMatch hgnc:TAS2R38 semapv:UnspecifiedMatching +OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:9584 semapv:UnspecifiedMatching +OMIM:607751 TAS2R38 skos:exactMatch hgnc.symbol:TAS2R38 semapv:UnspecifiedMatching OMIM:607751 TAS2R38 skos:exactMatch ncbigene:5726 semapv:UnspecifiedMatching OMIM:607752 CCNO skos:exactMatch UMLS:C1425614 semapv:UnspecifiedMatching OMIM:607752 CCNO skos:exactMatch UMLS:C4014534 semapv:UnspecifiedMatching -OMIM:607752 CCNO skos:exactMatch hgnc:CCNO semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch hgnc.symbol:18576 semapv:UnspecifiedMatching +OMIM:607752 CCNO skos:exactMatch hgnc.symbol:CCNO semapv:UnspecifiedMatching OMIM:607752 CCNO skos:exactMatch ncbigene:10309 semapv:UnspecifiedMatching -OMIM:607753 SMUG1 skos:exactMatch hgnc:SMUG1 semapv:UnspecifiedMatching +OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:17148 semapv:UnspecifiedMatching +OMIM:607753 SMUG1 skos:exactMatch hgnc.symbol:SMUG1 semapv:UnspecifiedMatching OMIM:607753 SMUG1 skos:exactMatch ncbigene:23583 semapv:UnspecifiedMatching -OMIM:607754 MKRN1 skos:exactMatch hgnc:MKRN1 semapv:UnspecifiedMatching +OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:7112 semapv:UnspecifiedMatching +OMIM:607754 MKRN1 skos:exactMatch hgnc.symbol:MKRN1 semapv:UnspecifiedMatching OMIM:607754 MKRN1 skos:exactMatch ncbigene:23608 semapv:UnspecifiedMatching -OMIM:607755 MAPK8IP2 skos:exactMatch hgnc:MAPK8IP2 semapv:UnspecifiedMatching +OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:6883 semapv:UnspecifiedMatching +OMIM:607755 MAPK8IP2 skos:exactMatch hgnc.symbol:MAPK8IP2 semapv:UnspecifiedMatching OMIM:607755 MAPK8IP2 skos:exactMatch ncbigene:23542 semapv:UnspecifiedMatching -OMIM:607756 AASDHPPT skos:exactMatch hgnc:AASDHPPT semapv:UnspecifiedMatching +OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:14235 semapv:UnspecifiedMatching +OMIM:607756 AASDHPPT skos:exactMatch hgnc.symbol:AASDHPPT semapv:UnspecifiedMatching OMIM:607756 AASDHPPT skos:exactMatch ncbigene:60496 semapv:UnspecifiedMatching -OMIM:607757 CBY1 skos:exactMatch hgnc:CBY1 semapv:UnspecifiedMatching +OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:1307 semapv:UnspecifiedMatching +OMIM:607757 CBY1 skos:exactMatch hgnc.symbol:CBY1 semapv:UnspecifiedMatching OMIM:607757 CBY1 skos:exactMatch ncbigene:25776 semapv:UnspecifiedMatching -OMIM:607758 CTNNBIP1 skos:exactMatch hgnc:CTNNBIP1 semapv:UnspecifiedMatching +OMIM:607758 CTNNBIP1 skos:exactMatch hgnc.symbol:16913 semapv:UnspecifiedMatching +OMIM:607758 CTNNBIP1 skos:exactMatch hgnc.symbol:CTNNBIP1 semapv:UnspecifiedMatching OMIM:607758 CTNNBIP1 skos:exactMatch ncbigene:56998 semapv:UnspecifiedMatching -OMIM:607759 ITGA2B skos:exactMatch hgnc:ITGA2B semapv:UnspecifiedMatching +OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:6138 semapv:UnspecifiedMatching +OMIM:607759 ITGA2B skos:exactMatch hgnc.symbol:ITGA2B semapv:UnspecifiedMatching OMIM:607759 ITGA2B skos:exactMatch ncbigene:3674 semapv:UnspecifiedMatching -OMIM:607760 TOPBP1 skos:exactMatch hgnc:TOPBP1 semapv:UnspecifiedMatching +OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:17008 semapv:UnspecifiedMatching +OMIM:607760 TOPBP1 skos:exactMatch hgnc.symbol:TOPBP1 semapv:UnspecifiedMatching OMIM:607760 TOPBP1 skos:exactMatch ncbigene:11073 semapv:UnspecifiedMatching OMIM:607761 KIRREL3 skos:exactMatch UMLS:C1427986 semapv:UnspecifiedMatching OMIM:607761 KIRREL3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:607761 KIRREL3 skos:exactMatch hgnc:KIRREL3 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:23204 semapv:UnspecifiedMatching +OMIM:607761 KIRREL3 skos:exactMatch hgnc.symbol:KIRREL3 semapv:UnspecifiedMatching OMIM:607761 KIRREL3 skos:exactMatch ncbigene:84623 semapv:UnspecifiedMatching OMIM:607762 KIRREL2 skos:exactMatch UMLS:C1425795 semapv:UnspecifiedMatching -OMIM:607762 KIRREL2 skos:exactMatch hgnc:KIRREL2 semapv:UnspecifiedMatching +OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:18816 semapv:UnspecifiedMatching +OMIM:607762 KIRREL2 skos:exactMatch hgnc.symbol:KIRREL2 semapv:UnspecifiedMatching OMIM:607762 KIRREL2 skos:exactMatch ncbigene:84063 semapv:UnspecifiedMatching -OMIM:607763 CENTB1 skos:exactMatch hgnc:ACAP1 semapv:UnspecifiedMatching +OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:16467 semapv:UnspecifiedMatching +OMIM:607763 CENTB1 skos:exactMatch hgnc.symbol:ACAP1 semapv:UnspecifiedMatching OMIM:607763 CENTB1 skos:exactMatch ncbigene:9744 semapv:UnspecifiedMatching -OMIM:607764 HSD3B7 skos:exactMatch hgnc:HSD3B7 semapv:UnspecifiedMatching +OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:18324 semapv:UnspecifiedMatching +OMIM:607764 HSD3B7 skos:exactMatch hgnc.symbol:HSD3B7 semapv:UnspecifiedMatching OMIM:607764 HSD3B7 skos:exactMatch ncbigene:80270 semapv:UnspecifiedMatching -OMIM:607766 CENTB2 skos:exactMatch hgnc:ACAP2 semapv:UnspecifiedMatching +OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:16469 semapv:UnspecifiedMatching +OMIM:607766 CENTB2 skos:exactMatch hgnc.symbol:ACAP2 semapv:UnspecifiedMatching OMIM:607766 CENTB2 skos:exactMatch ncbigene:23527 semapv:UnspecifiedMatching -OMIM:607767 SESN2 skos:exactMatch hgnc:SESN2 semapv:UnspecifiedMatching +OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:20746 semapv:UnspecifiedMatching +OMIM:607767 SESN2 skos:exactMatch hgnc.symbol:SESN2 semapv:UnspecifiedMatching OMIM:607767 SESN2 skos:exactMatch ncbigene:83667 semapv:UnspecifiedMatching -OMIM:607768 SESN3 skos:exactMatch hgnc:SESN3 semapv:UnspecifiedMatching +OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:23060 semapv:UnspecifiedMatching +OMIM:607768 SESN3 skos:exactMatch hgnc.symbol:SESN3 semapv:UnspecifiedMatching OMIM:607768 SESN3 skos:exactMatch ncbigene:143686 semapv:UnspecifiedMatching -OMIM:607769 PLEKHA4 skos:exactMatch hgnc:PLEKHA4 semapv:UnspecifiedMatching +OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:14339 semapv:UnspecifiedMatching +OMIM:607769 PLEKHA4 skos:exactMatch hgnc.symbol:PLEKHA4 semapv:UnspecifiedMatching OMIM:607769 PLEKHA4 skos:exactMatch ncbigene:57664 semapv:UnspecifiedMatching -OMIM:607770 PLEKHA5 skos:exactMatch hgnc:PLEKHA5 semapv:UnspecifiedMatching +OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:30036 semapv:UnspecifiedMatching +OMIM:607770 PLEKHA5 skos:exactMatch hgnc.symbol:PLEKHA5 semapv:UnspecifiedMatching OMIM:607770 PLEKHA5 skos:exactMatch ncbigene:54477 semapv:UnspecifiedMatching -OMIM:607771 PLEKHA6 skos:exactMatch hgnc:PLEKHA6 semapv:UnspecifiedMatching +OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:17053 semapv:UnspecifiedMatching +OMIM:607771 PLEKHA6 skos:exactMatch hgnc.symbol:PLEKHA6 semapv:UnspecifiedMatching OMIM:607771 PLEKHA6 skos:exactMatch ncbigene:22874 semapv:UnspecifiedMatching -OMIM:607772 PLEKHA1 skos:exactMatch hgnc:PLEKHA1 semapv:UnspecifiedMatching +OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:14335 semapv:UnspecifiedMatching +OMIM:607772 PLEKHA1 skos:exactMatch hgnc.symbol:PLEKHA1 semapv:UnspecifiedMatching OMIM:607772 PLEKHA1 skos:exactMatch ncbigene:59338 semapv:UnspecifiedMatching -OMIM:607773 PLEKHA2 skos:exactMatch hgnc:PLEKHA2 semapv:UnspecifiedMatching +OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:14336 semapv:UnspecifiedMatching +OMIM:607773 PLEKHA2 skos:exactMatch hgnc.symbol:PLEKHA2 semapv:UnspecifiedMatching OMIM:607773 PLEKHA2 skos:exactMatch ncbigene:59339 semapv:UnspecifiedMatching -OMIM:607774 PLEKHA3 skos:exactMatch hgnc:PLEKHA3 semapv:UnspecifiedMatching +OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:14338 semapv:UnspecifiedMatching +OMIM:607774 PLEKHA3 skos:exactMatch hgnc.symbol:PLEKHA3 semapv:UnspecifiedMatching OMIM:607774 PLEKHA3 skos:exactMatch ncbigene:65977 semapv:UnspecifiedMatching -OMIM:607775 KCNE4 skos:exactMatch hgnc:KCNE4 semapv:UnspecifiedMatching +OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:6244 semapv:UnspecifiedMatching +OMIM:607775 KCNE4 skos:exactMatch hgnc.symbol:KCNE4 semapv:UnspecifiedMatching OMIM:607775 KCNE4 skos:exactMatch ncbigene:23704 semapv:UnspecifiedMatching -OMIM:607776 SIN3A skos:exactMatch hgnc:SIN3A semapv:UnspecifiedMatching +OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:19353 semapv:UnspecifiedMatching +OMIM:607776 SIN3A skos:exactMatch hgnc.symbol:SIN3A semapv:UnspecifiedMatching OMIM:607776 SIN3A skos:exactMatch ncbigene:25942 semapv:UnspecifiedMatching -OMIM:607777 SIN3B skos:exactMatch hgnc:SIN3B semapv:UnspecifiedMatching +OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:19354 semapv:UnspecifiedMatching +OMIM:607777 SIN3B skos:exactMatch hgnc.symbol:SIN3B semapv:UnspecifiedMatching OMIM:607777 SIN3B skos:exactMatch ncbigene:23309 semapv:UnspecifiedMatching -OMIM:607779 PAQR7 skos:exactMatch hgnc:PAQR7 semapv:UnspecifiedMatching +OMIM:607779 PAQR7 skos:exactMatch hgnc.symbol:23146 semapv:UnspecifiedMatching +OMIM:607779 PAQR7 skos:exactMatch hgnc.symbol:PAQR7 semapv:UnspecifiedMatching OMIM:607779 PAQR7 skos:exactMatch ncbigene:164091 semapv:UnspecifiedMatching -OMIM:607780 PAQR8 skos:exactMatch hgnc:PAQR8 semapv:UnspecifiedMatching +OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:15708 semapv:UnspecifiedMatching +OMIM:607780 PAQR8 skos:exactMatch hgnc.symbol:PAQR8 semapv:UnspecifiedMatching OMIM:607780 PAQR8 skos:exactMatch ncbigene:85315 semapv:UnspecifiedMatching -OMIM:607781 PAQR5 skos:exactMatch hgnc:PAQR5 semapv:UnspecifiedMatching +OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:29645 semapv:UnspecifiedMatching +OMIM:607781 PAQR5 skos:exactMatch hgnc.symbol:PAQR5 semapv:UnspecifiedMatching OMIM:607781 PAQR5 skos:exactMatch ncbigene:54852 semapv:UnspecifiedMatching OMIM:607782 LUC7L skos:exactMatch UMLS:C1416935 semapv:UnspecifiedMatching -OMIM:607782 LUC7L skos:exactMatch hgnc:LUC7L semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:6723 semapv:UnspecifiedMatching +OMIM:607782 LUC7L skos:exactMatch hgnc.symbol:LUC7L semapv:UnspecifiedMatching OMIM:607782 LUC7L skos:exactMatch ncbigene:55692 semapv:UnspecifiedMatching -OMIM:607783 MESD skos:exactMatch hgnc:MESD semapv:UnspecifiedMatching +OMIM:607783 MESD skos:exactMatch hgnc.symbol:13520 semapv:UnspecifiedMatching +OMIM:607783 MESD skos:exactMatch hgnc.symbol:MESD semapv:UnspecifiedMatching OMIM:607783 MESD skos:exactMatch ncbigene:23184 semapv:UnspecifiedMatching -OMIM:607784 ABCG4 skos:exactMatch hgnc:ABCG4 semapv:UnspecifiedMatching +OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:13884 semapv:UnspecifiedMatching +OMIM:607784 ABCG4 skos:exactMatch hgnc.symbol:ABCG4 semapv:UnspecifiedMatching OMIM:607784 ABCG4 skos:exactMatch ncbigene:64137 semapv:UnspecifiedMatching OMIM:607786 PCSK9 skos:exactMatch UMLS:C1426592 semapv:UnspecifiedMatching OMIM:607786 PCSK9 skos:exactMatch UMLS:C1863551 semapv:UnspecifiedMatching OMIM:607786 PCSK9 skos:exactMatch UMLS:C3276239 semapv:UnspecifiedMatching -OMIM:607786 PCSK9 skos:exactMatch hgnc:PCSK9 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:20001 semapv:UnspecifiedMatching +OMIM:607786 PCSK9 skos:exactMatch hgnc.symbol:PCSK9 semapv:UnspecifiedMatching OMIM:607786 PCSK9 skos:exactMatch ncbigene:255738 semapv:UnspecifiedMatching -OMIM:607787 GPR180 skos:exactMatch hgnc:GPR180 semapv:UnspecifiedMatching +OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:28899 semapv:UnspecifiedMatching +OMIM:607787 GPR180 skos:exactMatch hgnc.symbol:GPR180 semapv:UnspecifiedMatching OMIM:607787 GPR180 skos:exactMatch ncbigene:160897 semapv:UnspecifiedMatching -OMIM:607788 MCFD2 skos:exactMatch hgnc:MCFD2 semapv:UnspecifiedMatching +OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:18451 semapv:UnspecifiedMatching +OMIM:607788 MCFD2 skos:exactMatch hgnc.symbol:MCFD2 semapv:UnspecifiedMatching OMIM:607788 MCFD2 skos:exactMatch ncbigene:90411 semapv:UnspecifiedMatching -OMIM:607789 PHF3 skos:exactMatch hgnc:PHF3 semapv:UnspecifiedMatching +OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:8921 semapv:UnspecifiedMatching +OMIM:607789 PHF3 skos:exactMatch hgnc.symbol:PHF3 semapv:UnspecifiedMatching OMIM:607789 PHF3 skos:exactMatch ncbigene:23469 semapv:UnspecifiedMatching OMIM:607790 TET1 skos:exactMatch UMLS:C1428863 semapv:UnspecifiedMatching -OMIM:607790 TET1 skos:exactMatch hgnc:TET1 semapv:UnspecifiedMatching +OMIM:607790 TET1 skos:exactMatch hgnc.symbol:29484 semapv:UnspecifiedMatching +OMIM:607790 TET1 skos:exactMatch hgnc.symbol:TET1 semapv:UnspecifiedMatching OMIM:607790 TET1 skos:exactMatch ncbigene:80312 semapv:UnspecifiedMatching -OMIM:607792 GCSAM skos:exactMatch hgnc:GCSAM semapv:UnspecifiedMatching +OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:20253 semapv:UnspecifiedMatching +OMIM:607792 GCSAM skos:exactMatch hgnc.symbol:GCSAM semapv:UnspecifiedMatching OMIM:607792 GCSAM skos:exactMatch ncbigene:257144 semapv:UnspecifiedMatching -OMIM:607793 PPAN skos:exactMatch hgnc:PPAN semapv:UnspecifiedMatching +OMIM:607793 PPAN skos:exactMatch hgnc.symbol:9227 semapv:UnspecifiedMatching +OMIM:607793 PPAN skos:exactMatch hgnc.symbol:PPAN semapv:UnspecifiedMatching OMIM:607793 PPAN skos:exactMatch ncbigene:56342 semapv:UnspecifiedMatching OMIM:607794 MESTIT1 skos:exactMatch UMLS:C1425221 semapv:UnspecifiedMatching -OMIM:607794 MESTIT1 skos:exactMatch hgnc:MESTIT1 semapv:UnspecifiedMatching +OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:17991 semapv:UnspecifiedMatching +OMIM:607794 MESTIT1 skos:exactMatch hgnc.symbol:MESTIT1 semapv:UnspecifiedMatching OMIM:607794 MESTIT1 skos:exactMatch ncbigene:317751 semapv:UnspecifiedMatching -OMIM:607795 PRPF4 skos:exactMatch hgnc:PRPF4 semapv:UnspecifiedMatching +OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:17349 semapv:UnspecifiedMatching +OMIM:607795 PRPF4 skos:exactMatch hgnc.symbol:PRPF4 semapv:UnspecifiedMatching OMIM:607795 PRPF4 skos:exactMatch ncbigene:9128 semapv:UnspecifiedMatching -OMIM:607796 PHF11 skos:exactMatch hgnc:PHF11 semapv:UnspecifiedMatching +OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:17024 semapv:UnspecifiedMatching +OMIM:607796 PHF11 skos:exactMatch hgnc.symbol:PHF11 semapv:UnspecifiedMatching OMIM:607796 PHF11 skos:exactMatch ncbigene:51131 semapv:UnspecifiedMatching -OMIM:607797 SNRNP40 skos:exactMatch hgnc:SNRNP40 semapv:UnspecifiedMatching +OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:30857 semapv:UnspecifiedMatching +OMIM:607797 SNRNP40 skos:exactMatch hgnc.symbol:SNRNP40 semapv:UnspecifiedMatching OMIM:607797 SNRNP40 skos:exactMatch ncbigene:9410 semapv:UnspecifiedMatching -OMIM:607798 TAF1L skos:exactMatch hgnc:TAF1L semapv:UnspecifiedMatching +OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:18056 semapv:UnspecifiedMatching +OMIM:607798 TAF1L skos:exactMatch hgnc.symbol:TAF1L semapv:UnspecifiedMatching OMIM:607798 TAF1L skos:exactMatch ncbigene:138474 semapv:UnspecifiedMatching -OMIM:607799 ZDHHC17 skos:exactMatch hgnc:ZDHHC17 semapv:UnspecifiedMatching +OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:18412 semapv:UnspecifiedMatching +OMIM:607799 ZDHHC17 skos:exactMatch hgnc.symbol:ZDHHC17 semapv:UnspecifiedMatching OMIM:607799 ZDHHC17 skos:exactMatch ncbigene:23390 semapv:UnspecifiedMatching -OMIM:607800 ABCA12 skos:exactMatch hgnc:ABCA12 semapv:UnspecifiedMatching +OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:14637 semapv:UnspecifiedMatching +OMIM:607800 ABCA12 skos:exactMatch hgnc.symbol:ABCA12 semapv:UnspecifiedMatching OMIM:607800 ABCA12 skos:exactMatch ncbigene:26154 semapv:UnspecifiedMatching -OMIM:607802 CNNM1 skos:exactMatch hgnc:CNNM1 semapv:UnspecifiedMatching +OMIM:607802 CNNM1 skos:exactMatch hgnc.symbol:102 semapv:UnspecifiedMatching +OMIM:607802 CNNM1 skos:exactMatch hgnc.symbol:CNNM1 semapv:UnspecifiedMatching OMIM:607802 CNNM1 skos:exactMatch ncbigene:26507 semapv:UnspecifiedMatching -OMIM:607803 CNNM2 skos:exactMatch hgnc:CNNM2 semapv:UnspecifiedMatching +OMIM:607803 CNNM2 skos:exactMatch hgnc.symbol:103 semapv:UnspecifiedMatching +OMIM:607803 CNNM2 skos:exactMatch hgnc.symbol:CNNM2 semapv:UnspecifiedMatching OMIM:607803 CNNM2 skos:exactMatch ncbigene:54805 semapv:UnspecifiedMatching -OMIM:607804 CNNM3 skos:exactMatch hgnc:CNNM3 semapv:UnspecifiedMatching +OMIM:607804 CNNM3 skos:exactMatch hgnc.symbol:104 semapv:UnspecifiedMatching +OMIM:607804 CNNM3 skos:exactMatch hgnc.symbol:CNNM3 semapv:UnspecifiedMatching OMIM:607804 CNNM3 skos:exactMatch ncbigene:26505 semapv:UnspecifiedMatching -OMIM:607805 CNNM4 skos:exactMatch hgnc:CNNM4 semapv:UnspecifiedMatching +OMIM:607805 CNNM4 skos:exactMatch hgnc.symbol:105 semapv:UnspecifiedMatching +OMIM:607805 CNNM4 skos:exactMatch hgnc.symbol:CNNM4 semapv:UnspecifiedMatching OMIM:607805 CNNM4 skos:exactMatch ncbigene:26504 semapv:UnspecifiedMatching -OMIM:607806 OTOP1 skos:exactMatch hgnc:OTOP1 semapv:UnspecifiedMatching +OMIM:607806 OTOP1 skos:exactMatch hgnc.symbol:19656 semapv:UnspecifiedMatching +OMIM:607806 OTOP1 skos:exactMatch hgnc.symbol:OTOP1 semapv:UnspecifiedMatching OMIM:607806 OTOP1 skos:exactMatch ncbigene:133060 semapv:UnspecifiedMatching -OMIM:607807 ABCA13 skos:exactMatch hgnc:ABCA13 semapv:UnspecifiedMatching +OMIM:607807 ABCA13 skos:exactMatch hgnc.symbol:14638 semapv:UnspecifiedMatching +OMIM:607807 ABCA13 skos:exactMatch hgnc.symbol:ABCA13 semapv:UnspecifiedMatching OMIM:607807 ABCA13 skos:exactMatch ncbigene:154664 semapv:UnspecifiedMatching -OMIM:607808 NKX2-4 skos:exactMatch hgnc:NKX2-4 semapv:UnspecifiedMatching +OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:7837 semapv:UnspecifiedMatching +OMIM:607808 NKX2-4 skos:exactMatch hgnc.symbol:NKX2-4 semapv:UnspecifiedMatching OMIM:607808 NKX2-4 skos:exactMatch ncbigene:644524 semapv:UnspecifiedMatching OMIM:607809 ACAT1 skos:exactMatch UMLS:C1412111 semapv:UnspecifiedMatching OMIM:607809 ACAT1 skos:exactMatch UMLS:C1536500 semapv:UnspecifiedMatching -OMIM:607809 ACAT1 skos:exactMatch hgnc:ACAT1 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:93 semapv:UnspecifiedMatching +OMIM:607809 ACAT1 skos:exactMatch hgnc.symbol:ACAT1 semapv:UnspecifiedMatching OMIM:607809 ACAT1 skos:exactMatch ncbigene:38 semapv:UnspecifiedMatching OMIM:607810 RSAD2 skos:exactMatch UMLS:C1539703 semapv:UnspecifiedMatching -OMIM:607810 RSAD2 skos:exactMatch hgnc:RSAD2 semapv:UnspecifiedMatching +OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:30908 semapv:UnspecifiedMatching +OMIM:607810 RSAD2 skos:exactMatch hgnc.symbol:RSAD2 semapv:UnspecifiedMatching OMIM:607810 RSAD2 skos:exactMatch ncbigene:91543 semapv:UnspecifiedMatching -OMIM:607811 PAK1IP1 skos:exactMatch hgnc:PAK1IP1 semapv:UnspecifiedMatching +OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:20882 semapv:UnspecifiedMatching +OMIM:607811 PAK1IP1 skos:exactMatch hgnc.symbol:PAK1IP1 semapv:UnspecifiedMatching OMIM:607811 PAK1IP1 skos:exactMatch ncbigene:55003 semapv:UnspecifiedMatching -OMIM:607813 PLPPR4 skos:exactMatch hgnc:PLPPR4 semapv:UnspecifiedMatching +OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:23496 semapv:UnspecifiedMatching +OMIM:607813 PLPPR4 skos:exactMatch hgnc.symbol:PLPPR4 semapv:UnspecifiedMatching OMIM:607813 PLPPR4 skos:exactMatch ncbigene:9890 semapv:UnspecifiedMatching -OMIM:607814 RGS9BP skos:exactMatch hgnc:RGS9BP semapv:UnspecifiedMatching +OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:30304 semapv:UnspecifiedMatching +OMIM:607814 RGS9BP skos:exactMatch hgnc.symbol:RGS9BP semapv:UnspecifiedMatching OMIM:607814 RGS9BP skos:exactMatch ncbigene:388531 semapv:UnspecifiedMatching -OMIM:607815 ANKS1B skos:exactMatch hgnc:ANKS1B semapv:UnspecifiedMatching +OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:24600 semapv:UnspecifiedMatching +OMIM:607815 ANKS1B skos:exactMatch hgnc.symbol:ANKS1B semapv:UnspecifiedMatching OMIM:607815 ANKS1B skos:exactMatch ncbigene:56899 semapv:UnspecifiedMatching -OMIM:607816 PCGF6 skos:exactMatch hgnc:PCGF6 semapv:UnspecifiedMatching +OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:21156 semapv:UnspecifiedMatching +OMIM:607816 PCGF6 skos:exactMatch hgnc.symbol:PCGF6 semapv:UnspecifiedMatching OMIM:607816 PCGF6 skos:exactMatch ncbigene:84108 semapv:UnspecifiedMatching -OMIM:607817 VPS13B skos:exactMatch hgnc:VPS13B semapv:UnspecifiedMatching +OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:2183 semapv:UnspecifiedMatching +OMIM:607817 VPS13B skos:exactMatch hgnc.symbol:VPS13B semapv:UnspecifiedMatching OMIM:607817 VPS13B skos:exactMatch ncbigene:157680 semapv:UnspecifiedMatching OMIM:607818 ZNF365 skos:exactMatch UMLS:C1425371 semapv:UnspecifiedMatching OMIM:607818 ZNF365 skos:exactMatch UMLS:C2700426 semapv:UnspecifiedMatching -OMIM:607818 ZNF365 skos:exactMatch hgnc:ZNF365 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:18194 semapv:UnspecifiedMatching +OMIM:607818 ZNF365 skos:exactMatch hgnc.symbol:ZNF365 semapv:UnspecifiedMatching OMIM:607818 ZNF365 skos:exactMatch ncbigene:22891 semapv:UnspecifiedMatching -OMIM:607819 SLC30A5 skos:exactMatch hgnc:SLC30A5 semapv:UnspecifiedMatching +OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:19089 semapv:UnspecifiedMatching +OMIM:607819 SLC30A5 skos:exactMatch hgnc.symbol:SLC30A5 semapv:UnspecifiedMatching OMIM:607819 SLC30A5 skos:exactMatch ncbigene:64924 semapv:UnspecifiedMatching OMIM:607820 HOOK1 skos:exactMatch UMLS:C1426505 semapv:UnspecifiedMatching -OMIM:607820 HOOK1 skos:exactMatch hgnc:HOOK1 semapv:UnspecifiedMatching +OMIM:607820 HOOK1 skos:exactMatch hgnc.symbol:19884 semapv:UnspecifiedMatching +OMIM:607820 HOOK1 skos:exactMatch hgnc.symbol:HOOK1 semapv:UnspecifiedMatching OMIM:607820 HOOK1 skos:exactMatch ncbigene:51361 semapv:UnspecifiedMatching OMIM:607824 HOOK2 skos:exactMatch UMLS:C1426506 semapv:UnspecifiedMatching -OMIM:607824 HOOK2 skos:exactMatch hgnc:HOOK2 semapv:UnspecifiedMatching +OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:19885 semapv:UnspecifiedMatching +OMIM:607824 HOOK2 skos:exactMatch hgnc.symbol:HOOK2 semapv:UnspecifiedMatching OMIM:607824 HOOK2 skos:exactMatch ncbigene:29911 semapv:UnspecifiedMatching OMIM:607825 HOOK3 skos:exactMatch UMLS:C1428139 semapv:UnspecifiedMatching -OMIM:607825 HOOK3 skos:exactMatch hgnc:HOOK3 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:23576 semapv:UnspecifiedMatching +OMIM:607825 HOOK3 skos:exactMatch hgnc.symbol:HOOK3 semapv:UnspecifiedMatching OMIM:607825 HOOK3 skos:exactMatch ncbigene:84376 semapv:UnspecifiedMatching -OMIM:607826 AHCYL1 skos:exactMatch hgnc:AHCYL1 semapv:UnspecifiedMatching +OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:344 semapv:UnspecifiedMatching +OMIM:607826 AHCYL1 skos:exactMatch hgnc.symbol:AHCYL1 semapv:UnspecifiedMatching OMIM:607826 AHCYL1 skos:exactMatch ncbigene:10768 semapv:UnspecifiedMatching -OMIM:607827 OTOP2 skos:exactMatch hgnc:OTOP2 semapv:UnspecifiedMatching +OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:19657 semapv:UnspecifiedMatching +OMIM:607827 OTOP2 skos:exactMatch hgnc.symbol:OTOP2 semapv:UnspecifiedMatching OMIM:607827 OTOP2 skos:exactMatch ncbigene:92736 semapv:UnspecifiedMatching -OMIM:607828 OTOP3 skos:exactMatch hgnc:OTOP3 semapv:UnspecifiedMatching +OMIM:607828 OTOP3 skos:exactMatch hgnc.symbol:19658 semapv:UnspecifiedMatching +OMIM:607828 OTOP3 skos:exactMatch hgnc.symbol:OTOP3 semapv:UnspecifiedMatching OMIM:607828 OTOP3 skos:exactMatch ncbigene:347741 semapv:UnspecifiedMatching -OMIM:607830 FRAS1 skos:exactMatch hgnc:FRAS1 semapv:UnspecifiedMatching +OMIM:607830 FRAS1 skos:exactMatch hgnc.symbol:19185 semapv:UnspecifiedMatching +OMIM:607830 FRAS1 skos:exactMatch hgnc.symbol:FRAS1 semapv:UnspecifiedMatching OMIM:607830 FRAS1 skos:exactMatch ncbigene:80144 semapv:UnspecifiedMatching -OMIM:607833 TAC4 skos:exactMatch hgnc:TAC4 semapv:UnspecifiedMatching +OMIM:607833 TAC4 skos:exactMatch hgnc.symbol:16641 semapv:UnspecifiedMatching +OMIM:607833 TAC4 skos:exactMatch hgnc.symbol:TAC4 semapv:UnspecifiedMatching OMIM:607833 TAC4 skos:exactMatch ncbigene:255061 semapv:UnspecifiedMatching -OMIM:607835 SF3B6 skos:exactMatch hgnc:SF3B6 semapv:UnspecifiedMatching +OMIM:607835 SF3B6 skos:exactMatch hgnc.symbol:30096 semapv:UnspecifiedMatching +OMIM:607835 SF3B6 skos:exactMatch hgnc.symbol:SF3B6 semapv:UnspecifiedMatching OMIM:607835 SF3B6 skos:exactMatch ncbigene:51639 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch UMLS:C1413500 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch UMLS:C1838570 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching -OMIM:607837 CLN8 skos:exactMatch hgnc:CLN8 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:2079 semapv:UnspecifiedMatching +OMIM:607837 CLN8 skos:exactMatch hgnc.symbol:CLN8 semapv:UnspecifiedMatching OMIM:607837 CLN8 skos:exactMatch ncbigene:2055 semapv:UnspecifiedMatching -OMIM:607838 GNPTG skos:exactMatch hgnc:GNPTG semapv:UnspecifiedMatching +OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:23026 semapv:UnspecifiedMatching +OMIM:607838 GNPTG skos:exactMatch hgnc.symbol:GNPTG semapv:UnspecifiedMatching OMIM:607838 GNPTG skos:exactMatch ncbigene:84572 semapv:UnspecifiedMatching -OMIM:607839 GBE1 skos:exactMatch hgnc:GBE1 semapv:UnspecifiedMatching +OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:4180 semapv:UnspecifiedMatching +OMIM:607839 GBE1 skos:exactMatch hgnc.symbol:GBE1 semapv:UnspecifiedMatching OMIM:607839 GBE1 skos:exactMatch ncbigene:2632 semapv:UnspecifiedMatching -OMIM:607840 GNPTAB skos:exactMatch hgnc:GNPTAB semapv:UnspecifiedMatching +OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:29670 semapv:UnspecifiedMatching +OMIM:607840 GNPTAB skos:exactMatch hgnc.symbol:GNPTAB semapv:UnspecifiedMatching OMIM:607840 GNPTAB skos:exactMatch ncbigene:79158 semapv:UnspecifiedMatching +OMIM:607842 aural atresia, congenital skos:exactMatch Orphanet:141074 semapv:UnspecifiedMatching OMIM:607842 aural atresia, congenital skos:exactMatch UMLS:C1842937 semapv:UnspecifiedMatching -OMIM:607842 aural atresia, congenital skos:exactMatch orphanet.ordo:141074 semapv:UnspecifiedMatching -OMIM:607843 PKHD1L1 skos:exactMatch hgnc:PKHD1L1 semapv:UnspecifiedMatching +OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:20313 semapv:UnspecifiedMatching +OMIM:607843 PKHD1L1 skos:exactMatch hgnc.symbol:PKHD1L1 semapv:UnspecifiedMatching OMIM:607843 PKHD1L1 skos:exactMatch ncbigene:93035 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C0029455 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C0265514 semapv:UnspecifiedMatching @@ -24241,26 +33586,33 @@ OMIM:607844 LEMD3 skos:exactMatch UMLS:C1537562 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149399 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C3149695 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch UMLS:C5394581 semapv:UnspecifiedMatching -OMIM:607844 LEMD3 skos:exactMatch hgnc:LEMD3 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:28887 semapv:UnspecifiedMatching +OMIM:607844 LEMD3 skos:exactMatch hgnc.symbol:LEMD3 semapv:UnspecifiedMatching OMIM:607844 LEMD3 skos:exactMatch ncbigene:23592 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch UMLS:C1425032 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:607845 XPO5 skos:exactMatch hgnc:XPO5 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:17675 semapv:UnspecifiedMatching +OMIM:607845 XPO5 skos:exactMatch hgnc.symbol:XPO5 semapv:UnspecifiedMatching OMIM:607845 XPO5 skos:exactMatch ncbigene:57510 semapv:UnspecifiedMatching OMIM:607846 METTL2B skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching -OMIM:607846 METTL2B skos:exactMatch hgnc:METTL2B semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:18272 semapv:UnspecifiedMatching +OMIM:607846 METTL2B skos:exactMatch hgnc.symbol:METTL2B semapv:UnspecifiedMatching OMIM:607846 METTL2B skos:exactMatch ncbigene:55798 semapv:UnspecifiedMatching +OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch Orphanet:2688 semapv:UnspecifiedMatching OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch UMLS:C1842930 semapv:UnspecifiedMatching -OMIM:607847 neutropenia, nonimmune chronic idiopathic, of adults skos:exactMatch orphanet.ordo:2688 semapv:UnspecifiedMatching -OMIM:607848 RILP skos:exactMatch hgnc:RILP semapv:UnspecifiedMatching +OMIM:607848 RILP skos:exactMatch hgnc.symbol:30266 semapv:UnspecifiedMatching +OMIM:607848 RILP skos:exactMatch hgnc.symbol:RILP semapv:UnspecifiedMatching OMIM:607848 RILP skos:exactMatch ncbigene:83547 semapv:UnspecifiedMatching -OMIM:607849 RDH11 skos:exactMatch hgnc:RDH11 semapv:UnspecifiedMatching +OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:17964 semapv:UnspecifiedMatching +OMIM:607849 RDH11 skos:exactMatch hgnc.symbol:RDH11 semapv:UnspecifiedMatching OMIM:607849 RDH11 skos:exactMatch ncbigene:51109 semapv:UnspecifiedMatching OMIM:607851 NKD1 skos:exactMatch UMLS:C1424706 semapv:UnspecifiedMatching -OMIM:607851 NKD1 skos:exactMatch hgnc:NKD1 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:17045 semapv:UnspecifiedMatching +OMIM:607851 NKD1 skos:exactMatch hgnc.symbol:NKD1 semapv:UnspecifiedMatching OMIM:607851 NKD1 skos:exactMatch ncbigene:85407 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch UMLS:C1424707 semapv:UnspecifiedMatching -OMIM:607852 NKD2 skos:exactMatch hgnc:NKD2 semapv:UnspecifiedMatching +OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:17046 semapv:UnspecifiedMatching +OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:NKD2 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch ncbigene:85409 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C1826421 semapv:UnspecifiedMatching @@ -24268,435 +33620,623 @@ OMIM:607854 BEST1 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C3888099 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C3888198 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C5435648 semapv:UnspecifiedMatching -OMIM:607854 BEST1 skos:exactMatch hgnc:BEST1 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:12703 semapv:UnspecifiedMatching +OMIM:607854 BEST1 skos:exactMatch hgnc.symbol:BEST1 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch ncbigene:7439 semapv:UnspecifiedMatching +OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch Orphanet:258 semapv:UnspecifiedMatching OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch UMLS:C1263858 semapv:UnspecifiedMatching -OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a skos:exactMatch orphanet.ordo:258 semapv:UnspecifiedMatching -OMIM:607856 CGNL1 skos:exactMatch hgnc:CGNL1 semapv:UnspecifiedMatching +OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:25931 semapv:UnspecifiedMatching +OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:CGNL1 semapv:UnspecifiedMatching OMIM:607856 CGNL1 skos:exactMatch ncbigene:84952 semapv:UnspecifiedMatching -OMIM:607858 PARL skos:exactMatch hgnc:PARL semapv:UnspecifiedMatching +OMIM:607858 PARL skos:exactMatch hgnc.symbol:18253 semapv:UnspecifiedMatching +OMIM:607858 PARL skos:exactMatch hgnc.symbol:PARL semapv:UnspecifiedMatching OMIM:607858 PARL skos:exactMatch ncbigene:55486 semapv:UnspecifiedMatching OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1538138 semapv:UnspecifiedMatching OMIM:607860 YY1AP1 skos:exactMatch UMLS:C1865267 semapv:UnspecifiedMatching -OMIM:607860 YY1AP1 skos:exactMatch hgnc:YY1AP1 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:30935 semapv:UnspecifiedMatching +OMIM:607860 YY1AP1 skos:exactMatch hgnc.symbol:YY1AP1 semapv:UnspecifiedMatching OMIM:607860 YY1AP1 skos:exactMatch ncbigene:55249 semapv:UnspecifiedMatching -OMIM:607861 DACT1 skos:exactMatch hgnc:DACT1 semapv:UnspecifiedMatching +OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:17748 semapv:UnspecifiedMatching +OMIM:607861 DACT1 skos:exactMatch hgnc.symbol:DACT1 semapv:UnspecifiedMatching OMIM:607861 DACT1 skos:exactMatch ncbigene:51339 semapv:UnspecifiedMatching -OMIM:607862 DIRAS1 skos:exactMatch hgnc:DIRAS1 semapv:UnspecifiedMatching +OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:19127 semapv:UnspecifiedMatching +OMIM:607862 DIRAS1 skos:exactMatch hgnc.symbol:DIRAS1 semapv:UnspecifiedMatching OMIM:607862 DIRAS1 skos:exactMatch ncbigene:148252 semapv:UnspecifiedMatching -OMIM:607863 DIRAS2 skos:exactMatch hgnc:DIRAS2 semapv:UnspecifiedMatching +OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:19323 semapv:UnspecifiedMatching +OMIM:607863 DIRAS2 skos:exactMatch hgnc.symbol:DIRAS2 semapv:UnspecifiedMatching OMIM:607863 DIRAS2 skos:exactMatch ncbigene:54769 semapv:UnspecifiedMatching -OMIM:607865 SETDB2 skos:exactMatch hgnc:SETDB2 semapv:UnspecifiedMatching +OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:20263 semapv:UnspecifiedMatching +OMIM:607865 SETDB2 skos:exactMatch hgnc.symbol:SETDB2 semapv:UnspecifiedMatching OMIM:607865 SETDB2 skos:exactMatch ncbigene:83852 semapv:UnspecifiedMatching -OMIM:607866 SPRYD7 skos:exactMatch hgnc:SPRYD7 semapv:UnspecifiedMatching +OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:14297 semapv:UnspecifiedMatching +OMIM:607866 SPRYD7 skos:exactMatch hgnc.symbol:SPRYD7 semapv:UnspecifiedMatching OMIM:607866 SPRYD7 skos:exactMatch ncbigene:57213 semapv:UnspecifiedMatching -OMIM:607867 RCBTB1 skos:exactMatch hgnc:RCBTB1 semapv:UnspecifiedMatching +OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:18243 semapv:UnspecifiedMatching +OMIM:607867 RCBTB1 skos:exactMatch hgnc.symbol:RCBTB1 semapv:UnspecifiedMatching OMIM:607867 RCBTB1 skos:exactMatch ncbigene:55213 semapv:UnspecifiedMatching -OMIM:607868 TRIM11 skos:exactMatch hgnc:TRIM11 semapv:UnspecifiedMatching +OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:16281 semapv:UnspecifiedMatching +OMIM:607868 TRIM11 skos:exactMatch hgnc.symbol:TRIM11 semapv:UnspecifiedMatching OMIM:607868 TRIM11 skos:exactMatch ncbigene:81559 semapv:UnspecifiedMatching -OMIM:607869 UNC5A skos:exactMatch hgnc:UNC5A semapv:UnspecifiedMatching +OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:12567 semapv:UnspecifiedMatching +OMIM:607869 UNC5A skos:exactMatch hgnc.symbol:UNC5A semapv:UnspecifiedMatching OMIM:607869 UNC5A skos:exactMatch ncbigene:90249 semapv:UnspecifiedMatching OMIM:607870 UNC5B skos:exactMatch UMLS:C1421358 semapv:UnspecifiedMatching -OMIM:607870 UNC5B skos:exactMatch hgnc:UNC5B semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:12568 semapv:UnspecifiedMatching +OMIM:607870 UNC5B skos:exactMatch hgnc.symbol:UNC5B semapv:UnspecifiedMatching OMIM:607870 UNC5B skos:exactMatch ncbigene:219699 semapv:UnspecifiedMatching -OMIM:607871 FBXO11 skos:exactMatch hgnc:FBXO11 semapv:UnspecifiedMatching +OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:13590 semapv:UnspecifiedMatching +OMIM:607871 FBXO11 skos:exactMatch hgnc.symbol:FBXO11 semapv:UnspecifiedMatching OMIM:607871 FBXO11 skos:exactMatch ncbigene:80204 semapv:UnspecifiedMatching -OMIM:607873 SCARF1 skos:exactMatch hgnc:SCARF1 semapv:UnspecifiedMatching +OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:16820 semapv:UnspecifiedMatching +OMIM:607873 SCARF1 skos:exactMatch hgnc.symbol:SCARF1 semapv:UnspecifiedMatching OMIM:607873 SCARF1 skos:exactMatch ncbigene:8578 semapv:UnspecifiedMatching -OMIM:607874 ZNF444 skos:exactMatch hgnc:ZNF444 semapv:UnspecifiedMatching +OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:16052 semapv:UnspecifiedMatching +OMIM:607874 ZNF444 skos:exactMatch hgnc.symbol:ZNF444 semapv:UnspecifiedMatching OMIM:607874 ZNF444 skos:exactMatch ncbigene:55311 semapv:UnspecifiedMatching -OMIM:607875 INPP5K skos:exactMatch hgnc:INPP5K semapv:UnspecifiedMatching +OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:33882 semapv:UnspecifiedMatching +OMIM:607875 INPP5K skos:exactMatch hgnc.symbol:INPP5K semapv:UnspecifiedMatching OMIM:607875 INPP5K skos:exactMatch ncbigene:51763 semapv:UnspecifiedMatching -OMIM:607877 otospiralin skos:exactMatch hgnc:OTOS semapv:UnspecifiedMatching +OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:22644 semapv:UnspecifiedMatching +OMIM:607877 otospiralin skos:exactMatch hgnc.symbol:OTOS semapv:UnspecifiedMatching OMIM:607877 otospiralin skos:exactMatch ncbigene:150677 semapv:UnspecifiedMatching -OMIM:607878 NNT skos:exactMatch hgnc:NNT semapv:UnspecifiedMatching +OMIM:607878 NNT skos:exactMatch hgnc.symbol:7863 semapv:UnspecifiedMatching +OMIM:607878 NNT skos:exactMatch hgnc.symbol:NNT semapv:UnspecifiedMatching OMIM:607878 NNT skos:exactMatch ncbigene:23530 semapv:UnspecifiedMatching -OMIM:607879 EXOC1 skos:exactMatch hgnc:EXOC1 semapv:UnspecifiedMatching +OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:30380 semapv:UnspecifiedMatching +OMIM:607879 EXOC1 skos:exactMatch hgnc.symbol:EXOC1 semapv:UnspecifiedMatching OMIM:607879 EXOC1 skos:exactMatch ncbigene:55763 semapv:UnspecifiedMatching -OMIM:607880 EXOC6B skos:exactMatch hgnc:EXOC6B semapv:UnspecifiedMatching +OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:17085 semapv:UnspecifiedMatching +OMIM:607880 EXOC6B skos:exactMatch hgnc.symbol:EXOC6B semapv:UnspecifiedMatching OMIM:607880 EXOC6B skos:exactMatch ncbigene:23233 semapv:UnspecifiedMatching -OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc:STAP2 semapv:UnspecifiedMatching +OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:30430 semapv:UnspecifiedMatching +OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch hgnc.symbol:STAP2 semapv:UnspecifiedMatching OMIM:607881 signal-transducing adaptor protein 2 skos:exactMatch ncbigene:55620 semapv:UnspecifiedMatching OMIM:607882 SLC52A2 skos:exactMatch UMLS:C1539607 semapv:UnspecifiedMatching OMIM:607882 SLC52A2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching -OMIM:607882 SLC52A2 skos:exactMatch hgnc:SLC52A2 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:30224 semapv:UnspecifiedMatching +OMIM:607882 SLC52A2 skos:exactMatch hgnc.symbol:SLC52A2 semapv:UnspecifiedMatching OMIM:607882 SLC52A2 skos:exactMatch ncbigene:79581 semapv:UnspecifiedMatching -OMIM:607883 SLC52A1 skos:exactMatch hgnc:SLC52A1 semapv:UnspecifiedMatching +OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:30225 semapv:UnspecifiedMatching +OMIM:607883 SLC52A1 skos:exactMatch hgnc.symbol:SLC52A1 semapv:UnspecifiedMatching OMIM:607883 SLC52A1 skos:exactMatch ncbigene:55065 semapv:UnspecifiedMatching -OMIM:607884 CMTM1 skos:exactMatch hgnc:CMTM1 semapv:UnspecifiedMatching +OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:19172 semapv:UnspecifiedMatching +OMIM:607884 CMTM1 skos:exactMatch hgnc.symbol:CMTM1 semapv:UnspecifiedMatching OMIM:607884 CMTM1 skos:exactMatch ncbigene:113540 semapv:UnspecifiedMatching -OMIM:607885 CMTM2 skos:exactMatch hgnc:CMTM2 semapv:UnspecifiedMatching +OMIM:607885 CMTM2 skos:exactMatch hgnc.symbol:19173 semapv:UnspecifiedMatching +OMIM:607885 CMTM2 skos:exactMatch hgnc.symbol:CMTM2 semapv:UnspecifiedMatching OMIM:607885 CMTM2 skos:exactMatch ncbigene:146225 semapv:UnspecifiedMatching -OMIM:607886 CMTM3 skos:exactMatch hgnc:CMTM3 semapv:UnspecifiedMatching +OMIM:607886 CMTM3 skos:exactMatch hgnc.symbol:19174 semapv:UnspecifiedMatching +OMIM:607886 CMTM3 skos:exactMatch hgnc.symbol:CMTM3 semapv:UnspecifiedMatching OMIM:607886 CMTM3 skos:exactMatch ncbigene:123920 semapv:UnspecifiedMatching -OMIM:607887 CMTM4 skos:exactMatch hgnc:CMTM4 semapv:UnspecifiedMatching +OMIM:607887 CMTM4 skos:exactMatch hgnc.symbol:19175 semapv:UnspecifiedMatching +OMIM:607887 CMTM4 skos:exactMatch hgnc.symbol:CMTM4 semapv:UnspecifiedMatching OMIM:607887 CMTM4 skos:exactMatch ncbigene:146223 semapv:UnspecifiedMatching -OMIM:607888 CMTM5 skos:exactMatch hgnc:CMTM5 semapv:UnspecifiedMatching +OMIM:607888 CMTM5 skos:exactMatch hgnc.symbol:19176 semapv:UnspecifiedMatching +OMIM:607888 CMTM5 skos:exactMatch hgnc.symbol:CMTM5 semapv:UnspecifiedMatching OMIM:607888 CMTM5 skos:exactMatch ncbigene:116173 semapv:UnspecifiedMatching -OMIM:607889 CMTM6 skos:exactMatch hgnc:CMTM6 semapv:UnspecifiedMatching +OMIM:607889 CMTM6 skos:exactMatch hgnc.symbol:19177 semapv:UnspecifiedMatching +OMIM:607889 CMTM6 skos:exactMatch hgnc.symbol:CMTM6 semapv:UnspecifiedMatching OMIM:607889 CMTM6 skos:exactMatch ncbigene:54918 semapv:UnspecifiedMatching -OMIM:607890 CMTM7 skos:exactMatch hgnc:CMTM7 semapv:UnspecifiedMatching +OMIM:607890 CMTM7 skos:exactMatch hgnc.symbol:19178 semapv:UnspecifiedMatching +OMIM:607890 CMTM7 skos:exactMatch hgnc.symbol:CMTM7 semapv:UnspecifiedMatching OMIM:607890 CMTM7 skos:exactMatch ncbigene:112616 semapv:UnspecifiedMatching -OMIM:607891 CMTM8 skos:exactMatch hgnc:CMTM8 semapv:UnspecifiedMatching +OMIM:607891 CMTM8 skos:exactMatch hgnc.symbol:19179 semapv:UnspecifiedMatching +OMIM:607891 CMTM8 skos:exactMatch hgnc.symbol:CMTM8 semapv:UnspecifiedMatching OMIM:607891 CMTM8 skos:exactMatch ncbigene:152189 semapv:UnspecifiedMatching -OMIM:607892 DSG4 skos:exactMatch hgnc:DSG4 semapv:UnspecifiedMatching +OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:21307 semapv:UnspecifiedMatching +OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:DSG4 semapv:UnspecifiedMatching OMIM:607892 DSG4 skos:exactMatch ncbigene:147409 semapv:UnspecifiedMatching -OMIM:607894 PKD1L2 skos:exactMatch hgnc:PKD1L2 semapv:UnspecifiedMatching +OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:21715 semapv:UnspecifiedMatching +OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:PKD1L2 semapv:UnspecifiedMatching OMIM:607894 PKD1L2 skos:exactMatch ncbigene:114780 semapv:UnspecifiedMatching -OMIM:607895 PKD1L3 skos:exactMatch hgnc:PKD1L3 semapv:UnspecifiedMatching +OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:21716 semapv:UnspecifiedMatching +OMIM:607895 PKD1L3 skos:exactMatch hgnc.symbol:PKD1L3 semapv:UnspecifiedMatching OMIM:607895 PKD1L3 skos:exactMatch ncbigene:342372 semapv:UnspecifiedMatching -OMIM:607896 OVCA2 skos:exactMatch hgnc:OVCA2 semapv:UnspecifiedMatching +OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:24203 semapv:UnspecifiedMatching +OMIM:607896 OVCA2 skos:exactMatch hgnc.symbol:OVCA2 semapv:UnspecifiedMatching OMIM:607896 OVCA2 skos:exactMatch ncbigene:124641 semapv:UnspecifiedMatching OMIM:607897 MSI2 skos:exactMatch UMLS:C1425623 semapv:UnspecifiedMatching -OMIM:607897 MSI2 skos:exactMatch hgnc:MSI2 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:18585 semapv:UnspecifiedMatching +OMIM:607897 MSI2 skos:exactMatch hgnc.symbol:MSI2 semapv:UnspecifiedMatching OMIM:607897 MSI2 skos:exactMatch ncbigene:124540 semapv:UnspecifiedMatching -OMIM:607898 TRIB3 skos:exactMatch hgnc:TRIB3 semapv:UnspecifiedMatching +OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:16228 semapv:UnspecifiedMatching +OMIM:607898 TRIB3 skos:exactMatch hgnc.symbol:TRIB3 semapv:UnspecifiedMatching OMIM:607898 TRIB3 skos:exactMatch ncbigene:57761 semapv:UnspecifiedMatching -OMIM:607899 WT1AS skos:exactMatch hgnc:WT1-AS semapv:UnspecifiedMatching +OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:18135 semapv:UnspecifiedMatching +OMIM:607899 WT1AS skos:exactMatch hgnc.symbol:WT1-AS semapv:UnspecifiedMatching OMIM:607899 WT1AS skos:exactMatch ncbigene:51352 semapv:UnspecifiedMatching -OMIM:607900 FERMT1 skos:exactMatch hgnc:FERMT1 semapv:UnspecifiedMatching +OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:15889 semapv:UnspecifiedMatching +OMIM:607900 FERMT1 skos:exactMatch hgnc.symbol:FERMT1 semapv:UnspecifiedMatching OMIM:607900 FERMT1 skos:exactMatch ncbigene:55612 semapv:UnspecifiedMatching -OMIM:607901 FERMT3 skos:exactMatch hgnc:FERMT3 semapv:UnspecifiedMatching +OMIM:607901 FERMT3 skos:exactMatch hgnc.symbol:23151 semapv:UnspecifiedMatching +OMIM:607901 FERMT3 skos:exactMatch hgnc.symbol:FERMT3 semapv:UnspecifiedMatching OMIM:607901 FERMT3 skos:exactMatch ncbigene:83706 semapv:UnspecifiedMatching -OMIM:607902 SNUPN skos:exactMatch hgnc:SNUPN semapv:UnspecifiedMatching +OMIM:607902 SNUPN skos:exactMatch hgnc.symbol:14245 semapv:UnspecifiedMatching +OMIM:607902 SNUPN skos:exactMatch hgnc.symbol:SNUPN semapv:UnspecifiedMatching OMIM:607902 SNUPN skos:exactMatch ncbigene:10073 semapv:UnspecifiedMatching -OMIM:607904 CACNA1H skos:exactMatch hgnc:CACNA1H semapv:UnspecifiedMatching +OMIM:607904 CACNA1H skos:exactMatch hgnc.symbol:1395 semapv:UnspecifiedMatching +OMIM:607904 CACNA1H skos:exactMatch hgnc.symbol:CACNA1H semapv:UnspecifiedMatching OMIM:607904 CACNA1H skos:exactMatch ncbigene:8912 semapv:UnspecifiedMatching -OMIM:607905 ALG2 skos:exactMatch hgnc:ALG2 semapv:UnspecifiedMatching +OMIM:607905 ALG2 skos:exactMatch hgnc.symbol:23159 semapv:UnspecifiedMatching +OMIM:607905 ALG2 skos:exactMatch hgnc.symbol:ALG2 semapv:UnspecifiedMatching OMIM:607905 ALG2 skos:exactMatch ncbigene:85365 semapv:UnspecifiedMatching -OMIM:607908 LIMS2 skos:exactMatch hgnc:LIMS2 semapv:UnspecifiedMatching +OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:16084 semapv:UnspecifiedMatching +OMIM:607908 LIMS2 skos:exactMatch hgnc.symbol:LIMS2 semapv:UnspecifiedMatching OMIM:607908 LIMS2 skos:exactMatch ncbigene:55679 semapv:UnspecifiedMatching -OMIM:607909 AZIN1 skos:exactMatch hgnc:AZIN1 semapv:UnspecifiedMatching +OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:16432 semapv:UnspecifiedMatching +OMIM:607909 AZIN1 skos:exactMatch hgnc.symbol:AZIN1 semapv:UnspecifiedMatching OMIM:607909 AZIN1 skos:exactMatch ncbigene:51582 semapv:UnspecifiedMatching -OMIM:607910 KIF9 skos:exactMatch hgnc:KIF9 semapv:UnspecifiedMatching +OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:16666 semapv:UnspecifiedMatching +OMIM:607910 KIF9 skos:exactMatch hgnc.symbol:KIF9 semapv:UnspecifiedMatching OMIM:607910 KIF9 skos:exactMatch ncbigene:64147 semapv:UnspecifiedMatching -OMIM:607911 EPM2AIP1 skos:exactMatch hgnc:EPM2AIP1 semapv:UnspecifiedMatching +OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:19735 semapv:UnspecifiedMatching +OMIM:607911 EPM2AIP1 skos:exactMatch hgnc.symbol:EPM2AIP1 semapv:UnspecifiedMatching OMIM:607911 EPM2AIP1 skos:exactMatch ncbigene:9852 semapv:UnspecifiedMatching -OMIM:607912 SELENOT skos:exactMatch hgnc:SELENOT semapv:UnspecifiedMatching +OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:18136 semapv:UnspecifiedMatching +OMIM:607912 SELENOT skos:exactMatch hgnc.symbol:SELENOT semapv:UnspecifiedMatching OMIM:607912 SELENOT skos:exactMatch ncbigene:51714 semapv:UnspecifiedMatching -OMIM:607913 GPX6 skos:exactMatch hgnc:GPX6 semapv:UnspecifiedMatching +OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:4558 semapv:UnspecifiedMatching +OMIM:607913 GPX6 skos:exactMatch hgnc.symbol:GPX6 semapv:UnspecifiedMatching OMIM:607913 GPX6 skos:exactMatch ncbigene:257202 semapv:UnspecifiedMatching -OMIM:607914 SELENOH skos:exactMatch hgnc:SELENOH semapv:UnspecifiedMatching +OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:18251 semapv:UnspecifiedMatching +OMIM:607914 SELENOH skos:exactMatch hgnc.symbol:SELENOH semapv:UnspecifiedMatching OMIM:607914 SELENOH skos:exactMatch ncbigene:280636 semapv:UnspecifiedMatching OMIM:607915 SELENOI skos:exactMatch UMLS:C1842834 semapv:UnspecifiedMatching OMIM:607915 SELENOI skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching -OMIM:607915 SELENOI skos:exactMatch hgnc:SELENOI semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:29361 semapv:UnspecifiedMatching +OMIM:607915 SELENOI skos:exactMatch hgnc.symbol:SELENOI semapv:UnspecifiedMatching OMIM:607915 SELENOI skos:exactMatch ncbigene:85465 semapv:UnspecifiedMatching -OMIM:607916 SELENOK skos:exactMatch hgnc:SELENOK semapv:UnspecifiedMatching +OMIM:607916 SELENOK skos:exactMatch hgnc.symbol:30394 semapv:UnspecifiedMatching +OMIM:607916 SELENOK skos:exactMatch hgnc.symbol:SELENOK semapv:UnspecifiedMatching OMIM:607916 SELENOK skos:exactMatch ncbigene:58515 semapv:UnspecifiedMatching -OMIM:607917 SELENOO skos:exactMatch hgnc:SELENOO semapv:UnspecifiedMatching +OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:30395 semapv:UnspecifiedMatching +OMIM:607917 SELENOO skos:exactMatch hgnc.symbol:SELENOO semapv:UnspecifiedMatching OMIM:607917 SELENOO skos:exactMatch ncbigene:83642 semapv:UnspecifiedMatching -OMIM:607918 SELENOS skos:exactMatch hgnc:SELENOS semapv:UnspecifiedMatching +OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:30396 semapv:UnspecifiedMatching +OMIM:607918 SELENOS skos:exactMatch hgnc.symbol:SELENOS semapv:UnspecifiedMatching OMIM:607918 SELENOS skos:exactMatch ncbigene:55829 semapv:UnspecifiedMatching -OMIM:607919 SELENOV skos:exactMatch hgnc:SELENOV semapv:UnspecifiedMatching +OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:30399 semapv:UnspecifiedMatching +OMIM:607919 SELENOV skos:exactMatch hgnc.symbol:SELENOV semapv:UnspecifiedMatching OMIM:607919 SELENOV skos:exactMatch ncbigene:348303 semapv:UnspecifiedMatching -OMIM:607922 A4GALT skos:exactMatch hgnc:A4GALT semapv:UnspecifiedMatching +OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:18149 semapv:UnspecifiedMatching +OMIM:607922 A4GALT skos:exactMatch hgnc.symbol:A4GALT semapv:UnspecifiedMatching OMIM:607922 A4GALT skos:exactMatch ncbigene:53947 semapv:UnspecifiedMatching -OMIM:607923 SNAP91 skos:exactMatch hgnc:SNAP91 semapv:UnspecifiedMatching +OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:14986 semapv:UnspecifiedMatching +OMIM:607923 SNAP91 skos:exactMatch hgnc.symbol:SNAP91 semapv:UnspecifiedMatching OMIM:607923 SNAP91 skos:exactMatch ncbigene:9892 semapv:UnspecifiedMatching OMIM:607924 MALAT1 skos:exactMatch UMLS:C1537647 semapv:UnspecifiedMatching -OMIM:607924 MALAT1 skos:exactMatch hgnc:MALAT1 semapv:UnspecifiedMatching +OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:29665 semapv:UnspecifiedMatching +OMIM:607924 MALAT1 skos:exactMatch hgnc.symbol:MALAT1 semapv:UnspecifiedMatching OMIM:607924 MALAT1 skos:exactMatch ncbigene:378938 semapv:UnspecifiedMatching -OMIM:607925 BTLA skos:exactMatch hgnc:BTLA semapv:UnspecifiedMatching +OMIM:607925 BTLA skos:exactMatch hgnc.symbol:21087 semapv:UnspecifiedMatching +OMIM:607925 BTLA skos:exactMatch hgnc.symbol:BTLA semapv:UnspecifiedMatching OMIM:607925 BTLA skos:exactMatch ncbigene:151888 semapv:UnspecifiedMatching -OMIM:607926 HCFC2 skos:exactMatch hgnc:HCFC2 semapv:UnspecifiedMatching +OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:24972 semapv:UnspecifiedMatching +OMIM:607926 HCFC2 skos:exactMatch hgnc.symbol:HCFC2 semapv:UnspecifiedMatching OMIM:607926 HCFC2 skos:exactMatch ncbigene:29915 semapv:UnspecifiedMatching -OMIM:607927 ANKFY1 skos:exactMatch hgnc:ANKFY1 semapv:UnspecifiedMatching +OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:20763 semapv:UnspecifiedMatching +OMIM:607927 ANKFY1 skos:exactMatch hgnc.symbol:ANKFY1 semapv:UnspecifiedMatching OMIM:607927 ANKFY1 skos:exactMatch ncbigene:51479 semapv:UnspecifiedMatching -OMIM:607928 WHRN skos:exactMatch hgnc:WHRN semapv:UnspecifiedMatching +OMIM:607928 WHRN skos:exactMatch hgnc.symbol:16361 semapv:UnspecifiedMatching +OMIM:607928 WHRN skos:exactMatch hgnc.symbol:WHRN semapv:UnspecifiedMatching OMIM:607928 WHRN skos:exactMatch ncbigene:25861 semapv:UnspecifiedMatching -OMIM:607929 CCM2 skos:exactMatch hgnc:CCM2 semapv:UnspecifiedMatching +OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:21708 semapv:UnspecifiedMatching +OMIM:607929 CCM2 skos:exactMatch hgnc.symbol:CCM2 semapv:UnspecifiedMatching OMIM:607929 CCM2 skos:exactMatch ncbigene:83605 semapv:UnspecifiedMatching -OMIM:607930 CYTL1 skos:exactMatch hgnc:CYTL1 semapv:UnspecifiedMatching +OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:24435 semapv:UnspecifiedMatching +OMIM:607930 CYTL1 skos:exactMatch hgnc.symbol:CYTL1 semapv:UnspecifiedMatching OMIM:607930 CYTL1 skos:exactMatch ncbigene:54360 semapv:UnspecifiedMatching -OMIM:607931 ATXN2L skos:exactMatch hgnc:ATXN2L semapv:UnspecifiedMatching +OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:31326 semapv:UnspecifiedMatching +OMIM:607931 ATXN2L skos:exactMatch hgnc.symbol:ATXN2L semapv:UnspecifiedMatching OMIM:607931 ATXN2L skos:exactMatch ncbigene:11273 semapv:UnspecifiedMatching OMIM:607933 SLC7A11 skos:exactMatch UMLS:C1420222 semapv:UnspecifiedMatching -OMIM:607933 SLC7A11 skos:exactMatch hgnc:SLC7A11 semapv:UnspecifiedMatching +OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:11059 semapv:UnspecifiedMatching +OMIM:607933 SLC7A11 skos:exactMatch hgnc.symbol:SLC7A11 semapv:UnspecifiedMatching OMIM:607933 SLC7A11 skos:exactMatch ncbigene:23657 semapv:UnspecifiedMatching -OMIM:607934 PADI1 skos:exactMatch hgnc:PADI1 semapv:UnspecifiedMatching +OMIM:607934 PADI1 skos:exactMatch hgnc.symbol:18367 semapv:UnspecifiedMatching +OMIM:607934 PADI1 skos:exactMatch hgnc.symbol:PADI1 semapv:UnspecifiedMatching OMIM:607934 PADI1 skos:exactMatch ncbigene:29943 semapv:UnspecifiedMatching -OMIM:607935 PADI2 skos:exactMatch hgnc:PADI2 semapv:UnspecifiedMatching +OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:18341 semapv:UnspecifiedMatching +OMIM:607935 PADI2 skos:exactMatch hgnc.symbol:PADI2 semapv:UnspecifiedMatching OMIM:607935 PADI2 skos:exactMatch ncbigene:11240 semapv:UnspecifiedMatching -OMIM:607937 NANOG skos:exactMatch hgnc:NANOG semapv:UnspecifiedMatching +OMIM:607937 NANOG skos:exactMatch hgnc.symbol:20857 semapv:UnspecifiedMatching +OMIM:607937 NANOG skos:exactMatch hgnc.symbol:NANOG semapv:UnspecifiedMatching OMIM:607937 NANOG skos:exactMatch ncbigene:79923 semapv:UnspecifiedMatching -OMIM:607938 NTM skos:exactMatch hgnc:NTM semapv:UnspecifiedMatching +OMIM:607938 NTM skos:exactMatch hgnc.symbol:17941 semapv:UnspecifiedMatching +OMIM:607938 NTM skos:exactMatch hgnc.symbol:NTM semapv:UnspecifiedMatching OMIM:607938 NTM skos:exactMatch ncbigene:50863 semapv:UnspecifiedMatching -OMIM:607939 SUMF1 skos:exactMatch hgnc:SUMF1 semapv:UnspecifiedMatching +OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:20376 semapv:UnspecifiedMatching +OMIM:607939 SUMF1 skos:exactMatch hgnc.symbol:SUMF1 semapv:UnspecifiedMatching OMIM:607939 SUMF1 skos:exactMatch ncbigene:285362 semapv:UnspecifiedMatching -OMIM:607940 SUMF2 skos:exactMatch hgnc:SUMF2 semapv:UnspecifiedMatching +OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:20415 semapv:UnspecifiedMatching +OMIM:607940 SUMF2 skos:exactMatch hgnc.symbol:SUMF2 semapv:UnspecifiedMatching OMIM:607940 SUMF2 skos:exactMatch ncbigene:25870 semapv:UnspecifiedMatching -OMIM:607942 PIK3AP1 skos:exactMatch hgnc:PIK3AP1 semapv:UnspecifiedMatching +OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:30034 semapv:UnspecifiedMatching +OMIM:607942 PIK3AP1 skos:exactMatch hgnc.symbol:PIK3AP1 semapv:UnspecifiedMatching OMIM:607942 PIK3AP1 skos:exactMatch ncbigene:118788 semapv:UnspecifiedMatching -OMIM:607943 RASA4 skos:exactMatch hgnc:RASA4 semapv:UnspecifiedMatching +OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:23181 semapv:UnspecifiedMatching +OMIM:607943 RASA4 skos:exactMatch hgnc.symbol:RASA4 semapv:UnspecifiedMatching OMIM:607943 RASA4 skos:exactMatch ncbigene:10156 semapv:UnspecifiedMatching -OMIM:607945 ADIPOR1 skos:exactMatch hgnc:ADIPOR1 semapv:UnspecifiedMatching +OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:24040 semapv:UnspecifiedMatching +OMIM:607945 ADIPOR1 skos:exactMatch hgnc.symbol:ADIPOR1 semapv:UnspecifiedMatching OMIM:607945 ADIPOR1 skos:exactMatch ncbigene:51094 semapv:UnspecifiedMatching -OMIM:607946 ADIPOR2 skos:exactMatch hgnc:ADIPOR2 semapv:UnspecifiedMatching +OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:24041 semapv:UnspecifiedMatching +OMIM:607946 ADIPOR2 skos:exactMatch hgnc.symbol:ADIPOR2 semapv:UnspecifiedMatching OMIM:607946 ADIPOR2 skos:exactMatch ncbigene:79602 semapv:UnspecifiedMatching -OMIM:607947 KCNRG skos:exactMatch hgnc:KCNRG semapv:UnspecifiedMatching +OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:18893 semapv:UnspecifiedMatching +OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:KCNRG semapv:UnspecifiedMatching OMIM:607947 KCNRG skos:exactMatch ncbigene:283518 semapv:UnspecifiedMatching -OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc:PRSS50 semapv:UnspecifiedMatching +OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:17910 semapv:UnspecifiedMatching +OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:PRSS50 semapv:UnspecifiedMatching OMIM:607950 testis-specific protease 50 skos:exactMatch ncbigene:29122 semapv:UnspecifiedMatching -OMIM:607951 CEP57 skos:exactMatch hgnc:CEP57 semapv:UnspecifiedMatching +OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:30794 semapv:UnspecifiedMatching +OMIM:607951 CEP57 skos:exactMatch hgnc.symbol:CEP57 semapv:UnspecifiedMatching OMIM:607951 CEP57 skos:exactMatch ncbigene:9702 semapv:UnspecifiedMatching -OMIM:607952 SLC6A11 skos:exactMatch hgnc:SLC6A11 semapv:UnspecifiedMatching +OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:11044 semapv:UnspecifiedMatching +OMIM:607952 SLC6A11 skos:exactMatch hgnc.symbol:SLC6A11 semapv:UnspecifiedMatching OMIM:607952 SLC6A11 skos:exactMatch ncbigene:6538 semapv:UnspecifiedMatching OMIM:607953 TAGLN3 skos:exactMatch UMLS:C1539921 semapv:UnspecifiedMatching -OMIM:607953 TAGLN3 skos:exactMatch hgnc:TAGLN3 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:29868 semapv:UnspecifiedMatching +OMIM:607953 TAGLN3 skos:exactMatch hgnc.symbol:TAGLN3 semapv:UnspecifiedMatching OMIM:607953 TAGLN3 skos:exactMatch ncbigene:29114 semapv:UnspecifiedMatching OMIM:607954 RANGRF skos:exactMatch UMLS:C1842760 semapv:UnspecifiedMatching -OMIM:607954 RANGRF skos:exactMatch hgnc:RANGRF semapv:UnspecifiedMatching +OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:17679 semapv:UnspecifiedMatching +OMIM:607954 RANGRF skos:exactMatch hgnc.symbol:RANGRF semapv:UnspecifiedMatching OMIM:607954 RANGRF skos:exactMatch ncbigene:29098 semapv:UnspecifiedMatching OMIM:607955 SASH1 skos:exactMatch UMLS:C1426071 semapv:UnspecifiedMatching OMIM:607955 SASH1 skos:exactMatch UMLS:C2675711 semapv:UnspecifiedMatching OMIM:607955 SASH1 skos:exactMatch UMLS:C5193062 semapv:UnspecifiedMatching -OMIM:607955 SASH1 skos:exactMatch hgnc:SASH1 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:19182 semapv:UnspecifiedMatching +OMIM:607955 SASH1 skos:exactMatch hgnc.symbol:SASH1 semapv:UnspecifiedMatching OMIM:607955 SASH1 skos:exactMatch ncbigene:23328 semapv:UnspecifiedMatching -OMIM:607956 MED8 skos:exactMatch hgnc:MED8 semapv:UnspecifiedMatching +OMIM:607956 MED8 skos:exactMatch hgnc.symbol:19971 semapv:UnspecifiedMatching +OMIM:607956 MED8 skos:exactMatch hgnc.symbol:MED8 semapv:UnspecifiedMatching OMIM:607956 MED8 skos:exactMatch ncbigene:112950 semapv:UnspecifiedMatching -OMIM:607957 CAMK1D skos:exactMatch hgnc:CAMK1D semapv:UnspecifiedMatching +OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:19341 semapv:UnspecifiedMatching +OMIM:607957 CAMK1D skos:exactMatch hgnc.symbol:CAMK1D semapv:UnspecifiedMatching OMIM:607957 CAMK1D skos:exactMatch ncbigene:57118 semapv:UnspecifiedMatching -OMIM:607958 STXBP6 skos:exactMatch hgnc:STXBP6 semapv:UnspecifiedMatching +OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:19666 semapv:UnspecifiedMatching +OMIM:607958 STXBP6 skos:exactMatch hgnc.symbol:STXBP6 semapv:UnspecifiedMatching OMIM:607958 STXBP6 skos:exactMatch ncbigene:29091 semapv:UnspecifiedMatching -OMIM:607959 SLC7A10 skos:exactMatch hgnc:SLC7A10 semapv:UnspecifiedMatching +OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:11058 semapv:UnspecifiedMatching +OMIM:607959 SLC7A10 skos:exactMatch hgnc.symbol:SLC7A10 semapv:UnspecifiedMatching OMIM:607959 SLC7A10 skos:exactMatch ncbigene:56301 semapv:UnspecifiedMatching OMIM:607960 DHX32 skos:exactMatch UMLS:C1424503 semapv:UnspecifiedMatching -OMIM:607960 DHX32 skos:exactMatch hgnc:DHX32 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:16717 semapv:UnspecifiedMatching +OMIM:607960 DHX32 skos:exactMatch hgnc.symbol:DHX32 semapv:UnspecifiedMatching OMIM:607960 DHX32 skos:exactMatch ncbigene:55760 semapv:UnspecifiedMatching -OMIM:607961 SEMA7A skos:exactMatch hgnc:SEMA7A semapv:UnspecifiedMatching +OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:10741 semapv:UnspecifiedMatching +OMIM:607961 SEMA7A skos:exactMatch hgnc.symbol:SEMA7A semapv:UnspecifiedMatching OMIM:607961 SEMA7A skos:exactMatch ncbigene:8482 semapv:UnspecifiedMatching -OMIM:607962 MIR23A skos:exactMatch hgnc:MIR23A semapv:UnspecifiedMatching +OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:31605 semapv:UnspecifiedMatching +OMIM:607962 MIR23A skos:exactMatch hgnc.symbol:MIR23A semapv:UnspecifiedMatching OMIM:607962 MIR23A skos:exactMatch ncbigene:407010 semapv:UnspecifiedMatching -OMIM:607963 MBD3L1 skos:exactMatch hgnc:MBD3L1 semapv:UnspecifiedMatching +OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:15774 semapv:UnspecifiedMatching +OMIM:607963 MBD3L1 skos:exactMatch hgnc.symbol:MBD3L1 semapv:UnspecifiedMatching OMIM:607963 MBD3L1 skos:exactMatch ncbigene:85509 semapv:UnspecifiedMatching -OMIM:607964 MBD3L2 skos:exactMatch hgnc:MBD3L2 semapv:UnspecifiedMatching +OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:18532 semapv:UnspecifiedMatching +OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:MBD3L2 semapv:UnspecifiedMatching OMIM:607964 MBD3L2 skos:exactMatch ncbigene:125997 semapv:UnspecifiedMatching -OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc:BBS9 semapv:UnspecifiedMatching +OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:30000 semapv:UnspecifiedMatching +OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:BBS9 semapv:UnspecifiedMatching OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch ncbigene:27241 semapv:UnspecifiedMatching -OMIM:607969 CLK4 skos:exactMatch hgnc:CLK4 semapv:UnspecifiedMatching +OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:13659 semapv:UnspecifiedMatching +OMIM:607969 CLK4 skos:exactMatch hgnc.symbol:CLK4 semapv:UnspecifiedMatching OMIM:607969 CLK4 skos:exactMatch ncbigene:57396 semapv:UnspecifiedMatching OMIM:607970 GPR135 skos:exactMatch UMLS:C1426588 semapv:UnspecifiedMatching -OMIM:607970 GPR135 skos:exactMatch hgnc:GPR135 semapv:UnspecifiedMatching +OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:19991 semapv:UnspecifiedMatching +OMIM:607970 GPR135 skos:exactMatch hgnc.symbol:GPR135 semapv:UnspecifiedMatching OMIM:607970 GPR135 skos:exactMatch ncbigene:64582 semapv:UnspecifiedMatching -OMIM:607971 SLC6A15 skos:exactMatch hgnc:SLC6A15 semapv:UnspecifiedMatching +OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:13621 semapv:UnspecifiedMatching +OMIM:607971 SLC6A15 skos:exactMatch hgnc.symbol:SLC6A15 semapv:UnspecifiedMatching OMIM:607971 SLC6A15 skos:exactMatch ncbigene:55117 semapv:UnspecifiedMatching -OMIM:607972 SLC6A16 skos:exactMatch hgnc:SLC6A16 semapv:UnspecifiedMatching +OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:13622 semapv:UnspecifiedMatching +OMIM:607972 SLC6A16 skos:exactMatch hgnc.symbol:SLC6A16 semapv:UnspecifiedMatching OMIM:607972 SLC6A16 skos:exactMatch ncbigene:28968 semapv:UnspecifiedMatching -OMIM:607973 NETO1 skos:exactMatch hgnc:NETO1 semapv:UnspecifiedMatching +OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:13823 semapv:UnspecifiedMatching +OMIM:607973 NETO1 skos:exactMatch hgnc.symbol:NETO1 semapv:UnspecifiedMatching OMIM:607973 NETO1 skos:exactMatch ncbigene:81832 semapv:UnspecifiedMatching -OMIM:607974 NETO2 skos:exactMatch hgnc:NETO2 semapv:UnspecifiedMatching +OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:14644 semapv:UnspecifiedMatching +OMIM:607974 NETO2 skos:exactMatch hgnc.symbol:NETO2 semapv:UnspecifiedMatching OMIM:607974 NETO2 skos:exactMatch ncbigene:81831 semapv:UnspecifiedMatching -OMIM:607975 OSGIN1 skos:exactMatch hgnc:OSGIN1 semapv:UnspecifiedMatching +OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:30093 semapv:UnspecifiedMatching +OMIM:607975 OSGIN1 skos:exactMatch hgnc.symbol:OSGIN1 semapv:UnspecifiedMatching OMIM:607975 OSGIN1 skos:exactMatch ncbigene:29948 semapv:UnspecifiedMatching -OMIM:607976 COX4I2 skos:exactMatch hgnc:COX4I2 semapv:UnspecifiedMatching +OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:16232 semapv:UnspecifiedMatching +OMIM:607976 COX4I2 skos:exactMatch hgnc.symbol:COX4I2 semapv:UnspecifiedMatching OMIM:607976 COX4I2 skos:exactMatch ncbigene:84701 semapv:UnspecifiedMatching OMIM:607977 HECA skos:exactMatch UMLS:C1427267 semapv:UnspecifiedMatching -OMIM:607977 HECA skos:exactMatch hgnc:HECA semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch hgnc.symbol:21041 semapv:UnspecifiedMatching +OMIM:607977 HECA skos:exactMatch hgnc.symbol:HECA semapv:UnspecifiedMatching OMIM:607977 HECA skos:exactMatch ncbigene:51696 semapv:UnspecifiedMatching -OMIM:607978 SAMSN1 skos:exactMatch hgnc:SAMSN1 semapv:UnspecifiedMatching +OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:10528 semapv:UnspecifiedMatching +OMIM:607978 SAMSN1 skos:exactMatch hgnc.symbol:SAMSN1 semapv:UnspecifiedMatching OMIM:607978 SAMSN1 skos:exactMatch ncbigene:64092 semapv:UnspecifiedMatching OMIM:607979 SERHL skos:exactMatch UMLS:C1422627 semapv:UnspecifiedMatching -OMIM:607979 SERHL skos:exactMatch hgnc:SERHL semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch hgnc.symbol:14408 semapv:UnspecifiedMatching +OMIM:607979 SERHL skos:exactMatch hgnc.symbol:SERHL semapv:UnspecifiedMatching OMIM:607979 SERHL skos:exactMatch ncbigene:94009 semapv:UnspecifiedMatching OMIM:607980 TOMM7 skos:exactMatch UMLS:C1427672 semapv:UnspecifiedMatching -OMIM:607980 TOMM7 skos:exactMatch hgnc:TOMM7 semapv:UnspecifiedMatching +OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:21648 semapv:UnspecifiedMatching +OMIM:607980 TOMM7 skos:exactMatch hgnc.symbol:TOMM7 semapv:UnspecifiedMatching OMIM:607980 TOMM7 skos:exactMatch ncbigene:54543 semapv:UnspecifiedMatching -OMIM:607981 NUB1 skos:exactMatch hgnc:NUB1 semapv:UnspecifiedMatching +OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:17623 semapv:UnspecifiedMatching +OMIM:607981 NUB1 skos:exactMatch hgnc.symbol:NUB1 semapv:UnspecifiedMatching OMIM:607981 NUB1 skos:exactMatch ncbigene:51667 semapv:UnspecifiedMatching -OMIM:607982 SCYL1 skos:exactMatch hgnc:SCYL1 semapv:UnspecifiedMatching +OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:14372 semapv:UnspecifiedMatching +OMIM:607982 SCYL1 skos:exactMatch hgnc.symbol:SCYL1 semapv:UnspecifiedMatching OMIM:607982 SCYL1 skos:exactMatch ncbigene:57410 semapv:UnspecifiedMatching OMIM:607983 GORAB skos:exactMatch UMLS:C0432255 semapv:UnspecifiedMatching OMIM:607983 GORAB skos:exactMatch UMLS:C1822658 semapv:UnspecifiedMatching -OMIM:607983 GORAB skos:exactMatch hgnc:GORAB semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch hgnc.symbol:25676 semapv:UnspecifiedMatching +OMIM:607983 GORAB skos:exactMatch hgnc.symbol:GORAB semapv:UnspecifiedMatching OMIM:607983 GORAB skos:exactMatch ncbigene:92344 semapv:UnspecifiedMatching -OMIM:607984 SPRY4 skos:exactMatch hgnc:SPRY4 semapv:UnspecifiedMatching +OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:15533 semapv:UnspecifiedMatching +OMIM:607984 SPRY4 skos:exactMatch hgnc.symbol:SPRY4 semapv:UnspecifiedMatching OMIM:607984 SPRY4 skos:exactMatch ncbigene:81848 semapv:UnspecifiedMatching -OMIM:607985 NAGPA skos:exactMatch hgnc:NAGPA semapv:UnspecifiedMatching +OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:17378 semapv:UnspecifiedMatching +OMIM:607985 NAGPA skos:exactMatch hgnc.symbol:NAGPA semapv:UnspecifiedMatching OMIM:607985 NAGPA skos:exactMatch ncbigene:51172 semapv:UnspecifiedMatching -OMIM:607986 S100A14 skos:exactMatch hgnc:S100A14 semapv:UnspecifiedMatching +OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:18901 semapv:UnspecifiedMatching +OMIM:607986 S100A14 skos:exactMatch hgnc.symbol:S100A14 semapv:UnspecifiedMatching OMIM:607986 S100A14 skos:exactMatch ncbigene:57402 semapv:UnspecifiedMatching -OMIM:607987 DNAJC10 skos:exactMatch hgnc:DNAJC10 semapv:UnspecifiedMatching +OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:24637 semapv:UnspecifiedMatching +OMIM:607987 DNAJC10 skos:exactMatch hgnc.symbol:DNAJC10 semapv:UnspecifiedMatching OMIM:607987 DNAJC10 skos:exactMatch ncbigene:54431 semapv:UnspecifiedMatching -OMIM:607988 SPOCK2 skos:exactMatch hgnc:SPOCK2 semapv:UnspecifiedMatching +OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:13564 semapv:UnspecifiedMatching +OMIM:607988 SPOCK2 skos:exactMatch hgnc.symbol:SPOCK2 semapv:UnspecifiedMatching OMIM:607988 SPOCK2 skos:exactMatch ncbigene:9806 semapv:UnspecifiedMatching -OMIM:607989 SPOCK3 skos:exactMatch hgnc:SPOCK3 semapv:UnspecifiedMatching +OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:13565 semapv:UnspecifiedMatching +OMIM:607989 SPOCK3 skos:exactMatch hgnc.symbol:SPOCK3 semapv:UnspecifiedMatching OMIM:607989 SPOCK3 skos:exactMatch ncbigene:50859 semapv:UnspecifiedMatching OMIM:607990 UHRF1 skos:exactMatch UMLS:C1421348 semapv:UnspecifiedMatching -OMIM:607990 UHRF1 skos:exactMatch hgnc:UHRF1 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:12556 semapv:UnspecifiedMatching +OMIM:607990 UHRF1 skos:exactMatch hgnc.symbol:UHRF1 semapv:UnspecifiedMatching OMIM:607990 UHRF1 skos:exactMatch ncbigene:29128 semapv:UnspecifiedMatching -OMIM:607991 SLC8A3 skos:exactMatch hgnc:SLC8A3 semapv:UnspecifiedMatching +OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:11070 semapv:UnspecifiedMatching +OMIM:607991 SLC8A3 skos:exactMatch hgnc.symbol:SLC8A3 semapv:UnspecifiedMatching OMIM:607991 SLC8A3 skos:exactMatch ncbigene:6547 semapv:UnspecifiedMatching -OMIM:607992 SUGP1 skos:exactMatch hgnc:SUGP1 semapv:UnspecifiedMatching +OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:18643 semapv:UnspecifiedMatching +OMIM:607992 SUGP1 skos:exactMatch hgnc.symbol:SUGP1 semapv:UnspecifiedMatching OMIM:607992 SUGP1 skos:exactMatch ncbigene:57794 semapv:UnspecifiedMatching -OMIM:607993 SUGP2 skos:exactMatch hgnc:SUGP2 semapv:UnspecifiedMatching +OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:18641 semapv:UnspecifiedMatching +OMIM:607993 SUGP2 skos:exactMatch hgnc.symbol:SUGP2 semapv:UnspecifiedMatching OMIM:607993 SUGP2 skos:exactMatch ncbigene:10147 semapv:UnspecifiedMatching -OMIM:607994 XRN1 skos:exactMatch hgnc:XRN1 semapv:UnspecifiedMatching +OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:30654 semapv:UnspecifiedMatching +OMIM:607994 XRN1 skos:exactMatch hgnc.symbol:XRN1 semapv:UnspecifiedMatching OMIM:607994 XRN1 skos:exactMatch ncbigene:54464 semapv:UnspecifiedMatching -OMIM:607995 UNC93A skos:exactMatch hgnc:UNC93A semapv:UnspecifiedMatching +OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:12570 semapv:UnspecifiedMatching +OMIM:607995 UNC93A skos:exactMatch hgnc.symbol:UNC93A semapv:UnspecifiedMatching OMIM:607995 UNC93A skos:exactMatch ncbigene:54346 semapv:UnspecifiedMatching -OMIM:607996 preproneuropeptide B skos:exactMatch hgnc:NPB semapv:UnspecifiedMatching +OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:30099 semapv:UnspecifiedMatching +OMIM:607996 preproneuropeptide B skos:exactMatch hgnc.symbol:NPB semapv:UnspecifiedMatching OMIM:607996 preproneuropeptide B skos:exactMatch ncbigene:256933 semapv:UnspecifiedMatching -OMIM:607997 NPW skos:exactMatch hgnc:NPW semapv:UnspecifiedMatching +OMIM:607997 NPW skos:exactMatch hgnc.symbol:30509 semapv:UnspecifiedMatching +OMIM:607997 NPW skos:exactMatch hgnc.symbol:NPW semapv:UnspecifiedMatching OMIM:607997 NPW skos:exactMatch ncbigene:283869 semapv:UnspecifiedMatching -OMIM:607998 TPP1 skos:exactMatch hgnc:TPP1 semapv:UnspecifiedMatching +OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:2073 semapv:UnspecifiedMatching +OMIM:607998 TPP1 skos:exactMatch hgnc.symbol:TPP1 semapv:UnspecifiedMatching OMIM:607998 TPP1 skos:exactMatch ncbigene:1200 semapv:UnspecifiedMatching -OMIM:607999 ASH1L skos:exactMatch hgnc:ASH1L semapv:UnspecifiedMatching +OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:19088 semapv:UnspecifiedMatching +OMIM:607999 ASH1L skos:exactMatch hgnc.symbol:ASH1L semapv:UnspecifiedMatching OMIM:607999 ASH1L skos:exactMatch ncbigene:55870 semapv:UnspecifiedMatching -OMIM:608000 NAA15 skos:exactMatch hgnc:NAA15 semapv:UnspecifiedMatching +OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:30782 semapv:UnspecifiedMatching +OMIM:608000 NAA15 skos:exactMatch hgnc.symbol:NAA15 semapv:UnspecifiedMatching OMIM:608000 NAA15 skos:exactMatch ncbigene:80155 semapv:UnspecifiedMatching -OMIM:608002 NPHP3 skos:exactMatch hgnc:NPHP3 semapv:UnspecifiedMatching +OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:7907 semapv:UnspecifiedMatching +OMIM:608002 NPHP3 skos:exactMatch hgnc.symbol:NPHP3 semapv:UnspecifiedMatching OMIM:608002 NPHP3 skos:exactMatch ncbigene:27031 semapv:UnspecifiedMatching -OMIM:608003 HIPK1 skos:exactMatch hgnc:HIPK1 semapv:UnspecifiedMatching +OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:19006 semapv:UnspecifiedMatching +OMIM:608003 HIPK1 skos:exactMatch hgnc.symbol:HIPK1 semapv:UnspecifiedMatching OMIM:608003 HIPK1 skos:exactMatch ncbigene:204851 semapv:UnspecifiedMatching OMIM:608004 NFKBIZ skos:exactMatch UMLS:C1538057 semapv:UnspecifiedMatching -OMIM:608004 NFKBIZ skos:exactMatch hgnc:NFKBIZ semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:29805 semapv:UnspecifiedMatching +OMIM:608004 NFKBIZ skos:exactMatch hgnc.symbol:NFKBIZ semapv:UnspecifiedMatching OMIM:608004 NFKBIZ skos:exactMatch ncbigene:64332 semapv:UnspecifiedMatching OMIM:608005 SIL1 skos:exactMatch UMLS:C0024814 semapv:UnspecifiedMatching OMIM:608005 SIL1 skos:exactMatch UMLS:C1822725 semapv:UnspecifiedMatching -OMIM:608005 SIL1 skos:exactMatch hgnc:SIL1 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:24624 semapv:UnspecifiedMatching +OMIM:608005 SIL1 skos:exactMatch hgnc.symbol:SIL1 semapv:UnspecifiedMatching OMIM:608005 SIL1 skos:exactMatch ncbigene:64374 semapv:UnspecifiedMatching -OMIM:608006 LMOD2 skos:exactMatch hgnc:LMOD2 semapv:UnspecifiedMatching +OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:6648 semapv:UnspecifiedMatching +OMIM:608006 LMOD2 skos:exactMatch hgnc.symbol:LMOD2 semapv:UnspecifiedMatching OMIM:608006 LMOD2 skos:exactMatch ncbigene:442721 semapv:UnspecifiedMatching -OMIM:608007 PLEK2 skos:exactMatch hgnc:PLEK2 semapv:UnspecifiedMatching +OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:19238 semapv:UnspecifiedMatching +OMIM:608007 PLEK2 skos:exactMatch hgnc.symbol:PLEK2 semapv:UnspecifiedMatching OMIM:608007 PLEK2 skos:exactMatch ncbigene:26499 semapv:UnspecifiedMatching -OMIM:608008 ANXA10 skos:exactMatch hgnc:ANXA10 semapv:UnspecifiedMatching +OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:534 semapv:UnspecifiedMatching +OMIM:608008 ANXA10 skos:exactMatch hgnc.symbol:ANXA10 semapv:UnspecifiedMatching OMIM:608008 ANXA10 skos:exactMatch ncbigene:11199 semapv:UnspecifiedMatching -OMIM:608009 AK5 skos:exactMatch hgnc:AK5 semapv:UnspecifiedMatching +OMIM:608009 AK5 skos:exactMatch hgnc.symbol:365 semapv:UnspecifiedMatching +OMIM:608009 AK5 skos:exactMatch hgnc.symbol:AK5 semapv:UnspecifiedMatching OMIM:608009 AK5 skos:exactMatch ncbigene:26289 semapv:UnspecifiedMatching OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1417777 semapv:UnspecifiedMatching OMIM:608010 NPC1L1 skos:exactMatch UMLS:C1842722 semapv:UnspecifiedMatching OMIM:608010 NPC1L1 skos:exactMatch UMLS:C4693795 semapv:UnspecifiedMatching -OMIM:608010 NPC1L1 skos:exactMatch hgnc:NPC1L1 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:7898 semapv:UnspecifiedMatching +OMIM:608010 NPC1L1 skos:exactMatch hgnc.symbol:NPC1L1 semapv:UnspecifiedMatching OMIM:608010 NPC1L1 skos:exactMatch ncbigene:29881 semapv:UnspecifiedMatching -OMIM:608011 GNL3 skos:exactMatch hgnc:GNL3 semapv:UnspecifiedMatching +OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:29931 semapv:UnspecifiedMatching +OMIM:608011 GNL3 skos:exactMatch hgnc.symbol:GNL3 semapv:UnspecifiedMatching OMIM:608011 GNL3 skos:exactMatch ncbigene:26354 semapv:UnspecifiedMatching -OMIM:608012 PDIA2 skos:exactMatch hgnc:PDIA2 semapv:UnspecifiedMatching +OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:14180 semapv:UnspecifiedMatching +OMIM:608012 PDIA2 skos:exactMatch hgnc.symbol:PDIA2 semapv:UnspecifiedMatching OMIM:608012 PDIA2 skos:exactMatch ncbigene:64714 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:355 semapv:UnspecifiedMatching +OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch Orphanet:85212 semapv:UnspecifiedMatching OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch UMLS:C1842704 semapv:UnspecifiedMatching -OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch orphanet.ordo:355 semapv:UnspecifiedMatching -OMIM:608013 gaucher disease, perinatal lethal skos:exactMatch orphanet.ordo:85212 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch UMLS:C1428937 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch UMLS:C1834692 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch UMLS:C1837552 semapv:UnspecifiedMatching -OMIM:608014 HSPB8 skos:exactMatch hgnc:HSPB8 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:30171 semapv:UnspecifiedMatching +OMIM:608014 HSPB8 skos:exactMatch hgnc.symbol:HSPB8 semapv:UnspecifiedMatching OMIM:608014 HSPB8 skos:exactMatch ncbigene:26353 semapv:UnspecifiedMatching -OMIM:608015 TSKU skos:exactMatch hgnc:TSKU semapv:UnspecifiedMatching +OMIM:608015 TSKU skos:exactMatch hgnc.symbol:28850 semapv:UnspecifiedMatching +OMIM:608015 TSKU skos:exactMatch hgnc.symbol:TSKU semapv:UnspecifiedMatching OMIM:608015 TSKU skos:exactMatch ncbigene:25987 semapv:UnspecifiedMatching OMIM:608016 COA4 skos:exactMatch UMLS:C1824732 semapv:UnspecifiedMatching -OMIM:608016 COA4 skos:exactMatch hgnc:COA4 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch hgnc.symbol:24604 semapv:UnspecifiedMatching +OMIM:608016 COA4 skos:exactMatch hgnc.symbol:COA4 semapv:UnspecifiedMatching OMIM:608016 COA4 skos:exactMatch ncbigene:51287 semapv:UnspecifiedMatching -OMIM:608017 FAM162A skos:exactMatch hgnc:FAM162A semapv:UnspecifiedMatching +OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:17865 semapv:UnspecifiedMatching +OMIM:608017 FAM162A skos:exactMatch hgnc.symbol:FAM162A semapv:UnspecifiedMatching OMIM:608017 FAM162A skos:exactMatch ncbigene:26355 semapv:UnspecifiedMatching -OMIM:608018 PRSS27 skos:exactMatch hgnc:PRSS27 semapv:UnspecifiedMatching +OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:15475 semapv:UnspecifiedMatching +OMIM:608018 PRSS27 skos:exactMatch hgnc.symbol:PRSS27 semapv:UnspecifiedMatching OMIM:608018 PRSS27 skos:exactMatch ncbigene:83886 semapv:UnspecifiedMatching -OMIM:608019 TNIP3 skos:exactMatch hgnc:TNIP3 semapv:UnspecifiedMatching +OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:19315 semapv:UnspecifiedMatching +OMIM:608019 TNIP3 skos:exactMatch hgnc.symbol:TNIP3 semapv:UnspecifiedMatching OMIM:608019 TNIP3 skos:exactMatch ncbigene:79931 semapv:UnspecifiedMatching -OMIM:608020 NUCB2 skos:exactMatch hgnc:NUCB2 semapv:UnspecifiedMatching +OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:8044 semapv:UnspecifiedMatching +OMIM:608020 NUCB2 skos:exactMatch hgnc.symbol:NUCB2 semapv:UnspecifiedMatching OMIM:608020 NUCB2 skos:exactMatch ncbigene:4925 semapv:UnspecifiedMatching -OMIM:608021 WFIKKN1 skos:exactMatch hgnc:WFIKKN1 semapv:UnspecifiedMatching +OMIM:608021 WFIKKN1 skos:exactMatch hgnc.symbol:30912 semapv:UnspecifiedMatching +OMIM:608021 WFIKKN1 skos:exactMatch hgnc.symbol:WFIKKN1 semapv:UnspecifiedMatching OMIM:608021 WFIKKN1 skos:exactMatch ncbigene:117166 semapv:UnspecifiedMatching OMIM:608023 DDX56 skos:exactMatch UMLS:C1425370 semapv:UnspecifiedMatching -OMIM:608023 DDX56 skos:exactMatch hgnc:DDX56 semapv:UnspecifiedMatching +OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:18193 semapv:UnspecifiedMatching +OMIM:608023 DDX56 skos:exactMatch hgnc.symbol:DDX56 semapv:UnspecifiedMatching OMIM:608023 DDX56 skos:exactMatch ncbigene:54606 semapv:UnspecifiedMatching OMIM:608024 ECI2 skos:exactMatch UMLS:C1422782 semapv:UnspecifiedMatching -OMIM:608024 ECI2 skos:exactMatch hgnc:ECI2 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:14601 semapv:UnspecifiedMatching +OMIM:608024 ECI2 skos:exactMatch hgnc.symbol:ECI2 semapv:UnspecifiedMatching OMIM:608024 ECI2 skos:exactMatch ncbigene:10455 semapv:UnspecifiedMatching -OMIM:608025 NBAS skos:exactMatch hgnc:NBAS semapv:UnspecifiedMatching +OMIM:608025 NBAS skos:exactMatch hgnc.symbol:15625 semapv:UnspecifiedMatching +OMIM:608025 NBAS skos:exactMatch hgnc.symbol:NBAS semapv:UnspecifiedMatching OMIM:608025 NBAS skos:exactMatch ncbigene:51594 semapv:UnspecifiedMatching -OMIM:608034 ASPA skos:exactMatch hgnc:ASPA semapv:UnspecifiedMatching +OMIM:608034 ASPA skos:exactMatch hgnc.symbol:756 semapv:UnspecifiedMatching +OMIM:608034 ASPA skos:exactMatch hgnc.symbol:ASPA semapv:UnspecifiedMatching OMIM:608034 ASPA skos:exactMatch ncbigene:443 semapv:UnspecifiedMatching OMIM:608036 iia 2 diabetes mellitus 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching -OMIM:608037 CHPF2 skos:exactMatch hgnc:CHPF2 semapv:UnspecifiedMatching +OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:29270 semapv:UnspecifiedMatching +OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:CHPF2 semapv:UnspecifiedMatching OMIM:608037 CHPF2 skos:exactMatch ncbigene:54480 semapv:UnspecifiedMatching -OMIM:608038 PAK5 skos:exactMatch hgnc:PAK5 semapv:UnspecifiedMatching +OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:15916 semapv:UnspecifiedMatching +OMIM:608038 PAK5 skos:exactMatch hgnc.symbol:PAK5 semapv:UnspecifiedMatching OMIM:608038 PAK5 skos:exactMatch ncbigene:57144 semapv:UnspecifiedMatching -OMIM:608039 SPATA9 skos:exactMatch hgnc:SPATA9 semapv:UnspecifiedMatching +OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:22988 semapv:UnspecifiedMatching +OMIM:608039 SPATA9 skos:exactMatch hgnc.symbol:SPATA9 semapv:UnspecifiedMatching OMIM:608039 SPATA9 skos:exactMatch ncbigene:83890 semapv:UnspecifiedMatching -OMIM:608040 IFT74 skos:exactMatch hgnc:IFT74 semapv:UnspecifiedMatching +OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:21424 semapv:UnspecifiedMatching +OMIM:608040 IFT74 skos:exactMatch hgnc.symbol:IFT74 semapv:UnspecifiedMatching OMIM:608040 IFT74 skos:exactMatch ncbigene:80173 semapv:UnspecifiedMatching -OMIM:608041 ANTXR2 skos:exactMatch hgnc:ANTXR2 semapv:UnspecifiedMatching +OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:21732 semapv:UnspecifiedMatching +OMIM:608041 ANTXR2 skos:exactMatch hgnc.symbol:ANTXR2 semapv:UnspecifiedMatching OMIM:608041 ANTXR2 skos:exactMatch ncbigene:118429 semapv:UnspecifiedMatching -OMIM:608042 SYTL1 skos:exactMatch hgnc:SYTL1 semapv:UnspecifiedMatching +OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:15584 semapv:UnspecifiedMatching +OMIM:608042 SYTL1 skos:exactMatch hgnc.symbol:SYTL1 semapv:UnspecifiedMatching OMIM:608042 SYTL1 skos:exactMatch ncbigene:84958 semapv:UnspecifiedMatching -OMIM:608043 GALNT10 skos:exactMatch hgnc:GALNT10 semapv:UnspecifiedMatching +OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:19873 semapv:UnspecifiedMatching +OMIM:608043 GALNT10 skos:exactMatch hgnc.symbol:GALNT10 semapv:UnspecifiedMatching OMIM:608043 GALNT10 skos:exactMatch ncbigene:55568 semapv:UnspecifiedMatching -OMIM:608044 SLC5A8 skos:exactMatch hgnc:SLC5A8 semapv:UnspecifiedMatching +OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:19119 semapv:UnspecifiedMatching +OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:SLC5A8 semapv:UnspecifiedMatching OMIM:608044 SLC5A8 skos:exactMatch ncbigene:160728 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch UMLS:C1539907 semapv:UnspecifiedMatching -OMIM:608046 SYVN1 skos:exactMatch hgnc:SYVN1 semapv:UnspecifiedMatching +OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:20738 semapv:UnspecifiedMatching +OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:SYVN1 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch ncbigene:84447 semapv:UnspecifiedMatching -OMIM:608047 UBE3B skos:exactMatch hgnc:UBE3B semapv:UnspecifiedMatching +OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:13478 semapv:UnspecifiedMatching +OMIM:608047 UBE3B skos:exactMatch hgnc.symbol:UBE3B semapv:UnspecifiedMatching OMIM:608047 UBE3B skos:exactMatch ncbigene:89910 semapv:UnspecifiedMatching -OMIM:608048 SHPRH skos:exactMatch hgnc:SHPRH semapv:UnspecifiedMatching +OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:19336 semapv:UnspecifiedMatching +OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:SHPRH semapv:UnspecifiedMatching OMIM:608048 SHPRH skos:exactMatch ncbigene:257218 semapv:UnspecifiedMatching -OMIM:608050 TOR1B skos:exactMatch hgnc:TOR1B semapv:UnspecifiedMatching +OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:11995 semapv:UnspecifiedMatching +OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:TOR1B semapv:UnspecifiedMatching OMIM:608050 TOR1B skos:exactMatch ncbigene:27348 semapv:UnspecifiedMatching -OMIM:608052 TOR2A skos:exactMatch hgnc:TOR2A semapv:UnspecifiedMatching +OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:11996 semapv:UnspecifiedMatching +OMIM:608052 TOR2A skos:exactMatch hgnc.symbol:TOR2A semapv:UnspecifiedMatching OMIM:608052 TOR2A skos:exactMatch ncbigene:27433 semapv:UnspecifiedMatching -OMIM:608053 ETFA skos:exactMatch hgnc:ETFA semapv:UnspecifiedMatching +OMIM:608053 ETFA skos:exactMatch hgnc.symbol:3481 semapv:UnspecifiedMatching +OMIM:608053 ETFA skos:exactMatch hgnc.symbol:ETFA semapv:UnspecifiedMatching OMIM:608053 ETFA skos:exactMatch ncbigene:2108 semapv:UnspecifiedMatching -OMIM:608054 CYP2A7 skos:exactMatch hgnc:CYP2A7 semapv:UnspecifiedMatching +OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:2611 semapv:UnspecifiedMatching +OMIM:608054 CYP2A7 skos:exactMatch hgnc.symbol:CYP2A7 semapv:UnspecifiedMatching OMIM:608054 CYP2A7 skos:exactMatch ncbigene:1549 semapv:UnspecifiedMatching -OMIM:608055 CYP2A13 skos:exactMatch hgnc:CYP2A13 semapv:UnspecifiedMatching +OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:2608 semapv:UnspecifiedMatching +OMIM:608055 CYP2A13 skos:exactMatch hgnc.symbol:CYP2A13 semapv:UnspecifiedMatching OMIM:608055 CYP2A13 skos:exactMatch ncbigene:1553 semapv:UnspecifiedMatching -OMIM:608057 DNASE2B skos:exactMatch hgnc:DNASE2B semapv:UnspecifiedMatching +OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:28875 semapv:UnspecifiedMatching +OMIM:608057 DNASE2B skos:exactMatch hgnc.symbol:DNASE2B semapv:UnspecifiedMatching OMIM:608057 DNASE2B skos:exactMatch ncbigene:58511 semapv:UnspecifiedMatching OMIM:608058 G6PC2 skos:exactMatch UMLS:C1428751 semapv:UnspecifiedMatching -OMIM:608058 G6PC2 skos:exactMatch hgnc:G6PC2 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:28906 semapv:UnspecifiedMatching +OMIM:608058 G6PC2 skos:exactMatch hgnc.symbol:G6PC2 semapv:UnspecifiedMatching OMIM:608058 G6PC2 skos:exactMatch ncbigene:57818 semapv:UnspecifiedMatching OMIM:608059 HES7 skos:exactMatch UMLS:C1423880 semapv:UnspecifiedMatching OMIM:608059 HES7 skos:exactMatch UMLS:C4017128 semapv:UnspecifiedMatching -OMIM:608059 HES7 skos:exactMatch hgnc:HES7 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch hgnc.symbol:15977 semapv:UnspecifiedMatching +OMIM:608059 HES7 skos:exactMatch hgnc.symbol:HES7 semapv:UnspecifiedMatching OMIM:608059 HES7 skos:exactMatch ncbigene:84667 semapv:UnspecifiedMatching OMIM:608060 HES4 skos:exactMatch UMLS:C1539667 semapv:UnspecifiedMatching -OMIM:608060 HES4 skos:exactMatch hgnc:HES4 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch hgnc.symbol:24149 semapv:UnspecifiedMatching +OMIM:608060 HES4 skos:exactMatch hgnc.symbol:HES4 semapv:UnspecifiedMatching OMIM:608060 HES4 skos:exactMatch ncbigene:57801 semapv:UnspecifiedMatching OMIM:608061 TOMM40 skos:exactMatch UMLS:C1425229 semapv:UnspecifiedMatching -OMIM:608061 TOMM40 skos:exactMatch hgnc:TOMM40 semapv:UnspecifiedMatching +OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:18001 semapv:UnspecifiedMatching +OMIM:608061 TOMM40 skos:exactMatch hgnc.symbol:TOMM40 semapv:UnspecifiedMatching OMIM:608061 TOMM40 skos:exactMatch ncbigene:10452 semapv:UnspecifiedMatching OMIM:608062 DCDC1 skos:exactMatch UMLS:C1427037 semapv:UnspecifiedMatching -OMIM:608062 DCDC1 skos:exactMatch hgnc:DCDC1 semapv:UnspecifiedMatching +OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:20625 semapv:UnspecifiedMatching +OMIM:608062 DCDC1 skos:exactMatch hgnc.symbol:DCDC1 semapv:UnspecifiedMatching OMIM:608062 DCDC1 skos:exactMatch ncbigene:341019 semapv:UnspecifiedMatching -OMIM:608064 KLHL5 skos:exactMatch hgnc:KLHL5 semapv:UnspecifiedMatching +OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:6356 semapv:UnspecifiedMatching +OMIM:608064 KLHL5 skos:exactMatch hgnc.symbol:KLHL5 semapv:UnspecifiedMatching OMIM:608064 KLHL5 skos:exactMatch ncbigene:51088 semapv:UnspecifiedMatching -OMIM:608065 SLC38A4 skos:exactMatch hgnc:SLC38A4 semapv:UnspecifiedMatching +OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:14679 semapv:UnspecifiedMatching +OMIM:608065 SLC38A4 skos:exactMatch hgnc.symbol:SLC38A4 semapv:UnspecifiedMatching OMIM:608065 SLC38A4 skos:exactMatch ncbigene:55089 semapv:UnspecifiedMatching -OMIM:608066 SAFB2 skos:exactMatch hgnc:SAFB2 semapv:UnspecifiedMatching +OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:21605 semapv:UnspecifiedMatching +OMIM:608066 SAFB2 skos:exactMatch hgnc.symbol:SAFB2 semapv:UnspecifiedMatching OMIM:608066 SAFB2 skos:exactMatch ncbigene:9667 semapv:UnspecifiedMatching OMIM:608067 RFWD2 skos:exactMatch UMLS:C1538830 semapv:UnspecifiedMatching -OMIM:608067 RFWD2 skos:exactMatch hgnc:COP1 semapv:UnspecifiedMatching +OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:17440 semapv:UnspecifiedMatching +OMIM:608067 RFWD2 skos:exactMatch hgnc.symbol:COP1 semapv:UnspecifiedMatching OMIM:608067 RFWD2 skos:exactMatch ncbigene:64326 semapv:UnspecifiedMatching +OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch Orphanet:3243 semapv:UnspecifiedMatching OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching -OMIM:608068 neutrophilic dermatosis, acute febrile skos:exactMatch orphanet.ordo:3243 semapv:UnspecifiedMatching -OMIM:608069 ERRFI1 skos:exactMatch hgnc:ERRFI1 semapv:UnspecifiedMatching +OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:18185 semapv:UnspecifiedMatching +OMIM:608069 ERRFI1 skos:exactMatch hgnc.symbol:ERRFI1 semapv:UnspecifiedMatching OMIM:608069 ERRFI1 skos:exactMatch ncbigene:54206 semapv:UnspecifiedMatching -OMIM:608070 HERPUD1 skos:exactMatch hgnc:HERPUD1 semapv:UnspecifiedMatching +OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:13744 semapv:UnspecifiedMatching +OMIM:608070 HERPUD1 skos:exactMatch hgnc.symbol:HERPUD1 semapv:UnspecifiedMatching OMIM:608070 HERPUD1 skos:exactMatch ncbigene:9709 semapv:UnspecifiedMatching -OMIM:608071 FBXW4 skos:exactMatch hgnc:FBXW4 semapv:UnspecifiedMatching +OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:10847 semapv:UnspecifiedMatching +OMIM:608071 FBXW4 skos:exactMatch hgnc.symbol:FBXW4 semapv:UnspecifiedMatching OMIM:608071 FBXW4 skos:exactMatch ncbigene:6468 semapv:UnspecifiedMatching -OMIM:608072 NHLRC1 skos:exactMatch hgnc:NHLRC1 semapv:UnspecifiedMatching +OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:21576 semapv:UnspecifiedMatching +OMIM:608072 NHLRC1 skos:exactMatch hgnc.symbol:NHLRC1 semapv:UnspecifiedMatching OMIM:608072 NHLRC1 skos:exactMatch ncbigene:378884 semapv:UnspecifiedMatching -OMIM:608073 NPM2 skos:exactMatch hgnc:NPM2 semapv:UnspecifiedMatching +OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:7930 semapv:UnspecifiedMatching +OMIM:608073 NPM2 skos:exactMatch hgnc.symbol:NPM2 semapv:UnspecifiedMatching OMIM:608073 NPM2 skos:exactMatch ncbigene:10361 semapv:UnspecifiedMatching -OMIM:608074 PDCD6IP skos:exactMatch hgnc:PDCD6IP semapv:UnspecifiedMatching +OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:8766 semapv:UnspecifiedMatching +OMIM:608074 PDCD6IP skos:exactMatch hgnc.symbol:PDCD6IP semapv:UnspecifiedMatching OMIM:608074 PDCD6IP skos:exactMatch ncbigene:10015 semapv:UnspecifiedMatching OMIM:608075 PLCZ1 skos:exactMatch UMLS:C1426095 semapv:UnspecifiedMatching OMIM:608075 PLCZ1 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching -OMIM:608075 PLCZ1 skos:exactMatch hgnc:PLCZ1 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:19218 semapv:UnspecifiedMatching +OMIM:608075 PLCZ1 skos:exactMatch hgnc.symbol:PLCZ1 semapv:UnspecifiedMatching OMIM:608075 PLCZ1 skos:exactMatch ncbigene:89869 semapv:UnspecifiedMatching -OMIM:608076 TNK1 skos:exactMatch hgnc:TNK1 semapv:UnspecifiedMatching +OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:11940 semapv:UnspecifiedMatching +OMIM:608076 TNK1 skos:exactMatch hgnc.symbol:TNK1 semapv:UnspecifiedMatching OMIM:608076 TNK1 skos:exactMatch ncbigene:8711 semapv:UnspecifiedMatching -OMIM:608077 P2RXL1 skos:exactMatch hgnc:P2RX6 semapv:UnspecifiedMatching +OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:8538 semapv:UnspecifiedMatching +OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:P2RX6 semapv:UnspecifiedMatching OMIM:608077 P2RXL1 skos:exactMatch ncbigene:9127 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch UMLS:C1422479 semapv:UnspecifiedMatching -OMIM:608079 ELAC1 skos:exactMatch hgnc:ELAC1 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:14197 semapv:UnspecifiedMatching +OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:ELAC1 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch ncbigene:55520 semapv:UnspecifiedMatching -OMIM:608080 MRO skos:exactMatch hgnc:MRO semapv:UnspecifiedMatching +OMIM:608080 MRO skos:exactMatch hgnc.symbol:24121 semapv:UnspecifiedMatching +OMIM:608080 MRO skos:exactMatch hgnc.symbol:MRO semapv:UnspecifiedMatching OMIM:608080 MRO skos:exactMatch ncbigene:83876 semapv:UnspecifiedMatching -OMIM:608081 SYT15 skos:exactMatch hgnc:SYT15 semapv:UnspecifiedMatching +OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:17167 semapv:UnspecifiedMatching +OMIM:608081 SYT15 skos:exactMatch hgnc.symbol:SYT15 semapv:UnspecifiedMatching OMIM:608081 SYT15 skos:exactMatch ncbigene:83849 semapv:UnspecifiedMatching -OMIM:608082 YPEL1 skos:exactMatch hgnc:YPEL1 semapv:UnspecifiedMatching +OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:12845 semapv:UnspecifiedMatching +OMIM:608082 YPEL1 skos:exactMatch hgnc.symbol:YPEL1 semapv:UnspecifiedMatching OMIM:608082 YPEL1 skos:exactMatch ncbigene:29799 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C1412477 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C1720779 semapv:UnspecifiedMatching @@ -24712,147 +34252,205 @@ OMIM:608083 APOC2 skos:exactMatch UMLS:C4017136 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017137 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017138 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch UMLS:C4017139 semapv:UnspecifiedMatching -OMIM:608083 APOC2 skos:exactMatch hgnc:APOC2 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:609 semapv:UnspecifiedMatching +OMIM:608083 APOC2 skos:exactMatch hgnc.symbol:APOC2 semapv:UnspecifiedMatching OMIM:608083 APOC2 skos:exactMatch ncbigene:344 semapv:UnspecifiedMatching -OMIM:608084 GIMAP1 skos:exactMatch hgnc:GIMAP1 semapv:UnspecifiedMatching +OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:23237 semapv:UnspecifiedMatching +OMIM:608084 GIMAP1 skos:exactMatch hgnc.symbol:GIMAP1 semapv:UnspecifiedMatching OMIM:608084 GIMAP1 skos:exactMatch ncbigene:170575 semapv:UnspecifiedMatching -OMIM:608085 GIMAP2 skos:exactMatch hgnc:GIMAP2 semapv:UnspecifiedMatching +OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:21789 semapv:UnspecifiedMatching +OMIM:608085 GIMAP2 skos:exactMatch hgnc.symbol:GIMAP2 semapv:UnspecifiedMatching OMIM:608085 GIMAP2 skos:exactMatch ncbigene:26157 semapv:UnspecifiedMatching -OMIM:608086 GIMAP5 skos:exactMatch hgnc:GIMAP5 semapv:UnspecifiedMatching +OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:18005 semapv:UnspecifiedMatching +OMIM:608086 GIMAP5 skos:exactMatch hgnc.symbol:GIMAP5 semapv:UnspecifiedMatching OMIM:608086 GIMAP5 skos:exactMatch ncbigene:55340 semapv:UnspecifiedMatching -OMIM:608087 GIMAP4 skos:exactMatch hgnc:GIMAP4 semapv:UnspecifiedMatching +OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:21872 semapv:UnspecifiedMatching +OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:GIMAP4 semapv:UnspecifiedMatching OMIM:608087 GIMAP4 skos:exactMatch ncbigene:55303 semapv:UnspecifiedMatching OMIM:608089 endometrial cancer skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching -OMIM:608090 MLXIP skos:exactMatch hgnc:MLXIP semapv:UnspecifiedMatching +OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:17055 semapv:UnspecifiedMatching +OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:MLXIP semapv:UnspecifiedMatching OMIM:608090 MLXIP skos:exactMatch ncbigene:22877 semapv:UnspecifiedMatching -OMIM:608092 PALLD skos:exactMatch hgnc:PALLD semapv:UnspecifiedMatching +OMIM:608092 PALLD skos:exactMatch hgnc.symbol:17068 semapv:UnspecifiedMatching +OMIM:608092 PALLD skos:exactMatch hgnc.symbol:PALLD semapv:UnspecifiedMatching OMIM:608092 PALLD skos:exactMatch ncbigene:23022 semapv:UnspecifiedMatching OMIM:608094 SLC37A1 skos:exactMatch UMLS:C1420190 semapv:UnspecifiedMatching -OMIM:608094 SLC37A1 skos:exactMatch hgnc:SLC37A1 semapv:UnspecifiedMatching +OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:11024 semapv:UnspecifiedMatching +OMIM:608094 SLC37A1 skos:exactMatch hgnc.symbol:SLC37A1 semapv:UnspecifiedMatching OMIM:608094 SLC37A1 skos:exactMatch ncbigene:54020 semapv:UnspecifiedMatching -OMIM:608095 SCNM1 skos:exactMatch hgnc:SCNM1 semapv:UnspecifiedMatching +OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:23136 semapv:UnspecifiedMatching +OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:SCNM1 semapv:UnspecifiedMatching OMIM:608095 SCNM1 skos:exactMatch ncbigene:79005 semapv:UnspecifiedMatching -OMIM:608100 NFU1 skos:exactMatch hgnc:NFU1 semapv:UnspecifiedMatching +OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:16287 semapv:UnspecifiedMatching +OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:NFU1 semapv:UnspecifiedMatching OMIM:608100 NFU1 skos:exactMatch ncbigene:27247 semapv:UnspecifiedMatching -OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc:H1-9P semapv:UnspecifiedMatching +OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:30616 semapv:UnspecifiedMatching +OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch hgnc.symbol:H1-9P semapv:UnspecifiedMatching OMIM:608101 spermatid-specific linker histone h1-like protein skos:exactMatch ncbigene:373861 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch UMLS:C1413497 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch UMLS:C1850442 semapv:UnspecifiedMatching -OMIM:608102 CLN5 skos:exactMatch hgnc:CLN5 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:2076 semapv:UnspecifiedMatching +OMIM:608102 CLN5 skos:exactMatch hgnc.symbol:CLN5 semapv:UnspecifiedMatching OMIM:608102 CLN5 skos:exactMatch ncbigene:1203 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch UMLS:C1427957 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch UMLS:C2931002 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch UMLS:C4694013 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch UMLS:C4694014 semapv:UnspecifiedMatching -OMIM:608103 ALG8 skos:exactMatch hgnc:ALG8 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:23161 semapv:UnspecifiedMatching +OMIM:608103 ALG8 skos:exactMatch hgnc.symbol:ALG8 semapv:UnspecifiedMatching OMIM:608103 ALG8 skos:exactMatch ncbigene:79053 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch UMLS:C0031069 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch UMLS:C0085077 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch UMLS:C1417104 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch UMLS:C1851347 semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:608107 MEFV skos:exactMatch hgnc:MEFV semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch hgnc.symbol:6998 semapv:UnspecifiedMatching +OMIM:608107 MEFV skos:exactMatch hgnc.symbol:MEFV semapv:UnspecifiedMatching OMIM:608107 MEFV skos:exactMatch ncbigene:4210 semapv:UnspecifiedMatching -OMIM:608108 CFDP1 skos:exactMatch hgnc:CFDP1 semapv:UnspecifiedMatching +OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:1873 semapv:UnspecifiedMatching +OMIM:608108 CFDP1 skos:exactMatch hgnc.symbol:CFDP1 semapv:UnspecifiedMatching OMIM:608108 CFDP1 skos:exactMatch ncbigene:10428 semapv:UnspecifiedMatching OMIM:608109 PUS1 skos:exactMatch UMLS:C1423539 semapv:UnspecifiedMatching OMIM:608109 PUS1 skos:exactMatch UMLS:C4551958 semapv:UnspecifiedMatching -OMIM:608109 PUS1 skos:exactMatch hgnc:PUS1 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:15508 semapv:UnspecifiedMatching +OMIM:608109 PUS1 skos:exactMatch hgnc.symbol:PUS1 semapv:UnspecifiedMatching OMIM:608109 PUS1 skos:exactMatch ncbigene:80324 semapv:UnspecifiedMatching -OMIM:608110 PAK6 skos:exactMatch hgnc:PAK6 semapv:UnspecifiedMatching +OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:16061 semapv:UnspecifiedMatching +OMIM:608110 PAK6 skos:exactMatch hgnc.symbol:PAK6 semapv:UnspecifiedMatching OMIM:608110 PAK6 skos:exactMatch ncbigene:56924 semapv:UnspecifiedMatching -OMIM:608111 FANCL skos:exactMatch hgnc:FANCL semapv:UnspecifiedMatching +OMIM:608111 FANCL skos:exactMatch hgnc.symbol:20748 semapv:UnspecifiedMatching +OMIM:608111 FANCL skos:exactMatch hgnc.symbol:FANCL semapv:UnspecifiedMatching OMIM:608111 FANCL skos:exactMatch ncbigene:55120 semapv:UnspecifiedMatching OMIM:608112 TRAK1 skos:exactMatch UMLS:C1823479 semapv:UnspecifiedMatching OMIM:608112 TRAK1 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching -OMIM:608112 TRAK1 skos:exactMatch hgnc:TRAK1 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:29947 semapv:UnspecifiedMatching +OMIM:608112 TRAK1 skos:exactMatch hgnc.symbol:TRAK1 semapv:UnspecifiedMatching OMIM:608112 TRAK1 skos:exactMatch ncbigene:22906 semapv:UnspecifiedMatching -OMIM:608113 SGCZ skos:exactMatch hgnc:SGCZ semapv:UnspecifiedMatching +OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:14075 semapv:UnspecifiedMatching +OMIM:608113 SGCZ skos:exactMatch hgnc.symbol:SGCZ semapv:UnspecifiedMatching OMIM:608113 SGCZ skos:exactMatch ncbigene:137868 semapv:UnspecifiedMatching -OMIM:608114 CENTA1 skos:exactMatch hgnc:ADAP1 semapv:UnspecifiedMatching +OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:16486 semapv:UnspecifiedMatching +OMIM:608114 CENTA1 skos:exactMatch hgnc.symbol:ADAP1 semapv:UnspecifiedMatching OMIM:608114 CENTA1 skos:exactMatch ncbigene:11033 semapv:UnspecifiedMatching -OMIM:608116 HHATL skos:exactMatch hgnc:HHATL semapv:UnspecifiedMatching +OMIM:608116 HHATL skos:exactMatch hgnc.symbol:13242 semapv:UnspecifiedMatching +OMIM:608116 HHATL skos:exactMatch hgnc.symbol:HHATL semapv:UnspecifiedMatching OMIM:608116 HHATL skos:exactMatch ncbigene:57467 semapv:UnspecifiedMatching -OMIM:608117 PDE4DIP skos:exactMatch hgnc:PDE4DIP semapv:UnspecifiedMatching +OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:15580 semapv:UnspecifiedMatching +OMIM:608117 PDE4DIP skos:exactMatch hgnc.symbol:PDE4DIP semapv:UnspecifiedMatching OMIM:608117 PDE4DIP skos:exactMatch ncbigene:9659 semapv:UnspecifiedMatching -OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc:HOMEZ semapv:UnspecifiedMatching +OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:20164 semapv:UnspecifiedMatching +OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch hgnc.symbol:HOMEZ semapv:UnspecifiedMatching OMIM:608119 homeodomain leucine zipper-containing factor skos:exactMatch ncbigene:57594 semapv:UnspecifiedMatching -OMIM:608120 PARVA skos:exactMatch hgnc:PARVA semapv:UnspecifiedMatching +OMIM:608120 PARVA skos:exactMatch hgnc.symbol:14652 semapv:UnspecifiedMatching +OMIM:608120 PARVA skos:exactMatch hgnc.symbol:PARVA semapv:UnspecifiedMatching OMIM:608120 PARVA skos:exactMatch ncbigene:55742 semapv:UnspecifiedMatching OMIM:608121 PARVB skos:exactMatch UMLS:C1422816 semapv:UnspecifiedMatching -OMIM:608121 PARVB skos:exactMatch hgnc:PARVB semapv:UnspecifiedMatching +OMIM:608121 PARVB skos:exactMatch hgnc.symbol:14653 semapv:UnspecifiedMatching +OMIM:608121 PARVB skos:exactMatch hgnc.symbol:PARVB semapv:UnspecifiedMatching OMIM:608121 PARVB skos:exactMatch ncbigene:29780 semapv:UnspecifiedMatching -OMIM:608122 PARVG skos:exactMatch hgnc:PARVG semapv:UnspecifiedMatching +OMIM:608122 PARVG skos:exactMatch hgnc.symbol:14654 semapv:UnspecifiedMatching +OMIM:608122 PARVG skos:exactMatch hgnc.symbol:PARVG semapv:UnspecifiedMatching OMIM:608122 PARVG skos:exactMatch ncbigene:64098 semapv:UnspecifiedMatching -OMIM:608123 ACOT8 skos:exactMatch hgnc:ACOT8 semapv:UnspecifiedMatching +OMIM:608123 ACOT8 skos:exactMatch hgnc.symbol:15919 semapv:UnspecifiedMatching +OMIM:608123 ACOT8 skos:exactMatch hgnc.symbol:ACOT8 semapv:UnspecifiedMatching OMIM:608123 ACOT8 skos:exactMatch ncbigene:10005 semapv:UnspecifiedMatching -OMIM:608124 XYLT1 skos:exactMatch hgnc:XYLT1 semapv:UnspecifiedMatching +OMIM:608124 XYLT1 skos:exactMatch hgnc.symbol:15516 semapv:UnspecifiedMatching +OMIM:608124 XYLT1 skos:exactMatch hgnc.symbol:XYLT1 semapv:UnspecifiedMatching OMIM:608124 XYLT1 skos:exactMatch ncbigene:64131 semapv:UnspecifiedMatching -OMIM:608125 XYLT2 skos:exactMatch hgnc:XYLT2 semapv:UnspecifiedMatching +OMIM:608125 XYLT2 skos:exactMatch hgnc.symbol:15517 semapv:UnspecifiedMatching +OMIM:608125 XYLT2 skos:exactMatch hgnc.symbol:XYLT2 semapv:UnspecifiedMatching OMIM:608125 XYLT2 skos:exactMatch ncbigene:64132 semapv:UnspecifiedMatching OMIM:608126 WDHD1 skos:exactMatch UMLS:C1427963 semapv:UnspecifiedMatching -OMIM:608126 WDHD1 skos:exactMatch hgnc:WDHD1 semapv:UnspecifiedMatching +OMIM:608126 WDHD1 skos:exactMatch hgnc.symbol:23170 semapv:UnspecifiedMatching +OMIM:608126 WDHD1 skos:exactMatch hgnc.symbol:WDHD1 semapv:UnspecifiedMatching OMIM:608126 WDHD1 skos:exactMatch ncbigene:11169 semapv:UnspecifiedMatching -OMIM:608127 PBX4 skos:exactMatch hgnc:PBX4 semapv:UnspecifiedMatching +OMIM:608127 PBX4 skos:exactMatch hgnc.symbol:13403 semapv:UnspecifiedMatching +OMIM:608127 PBX4 skos:exactMatch hgnc.symbol:PBX4 semapv:UnspecifiedMatching OMIM:608127 PBX4 skos:exactMatch ncbigene:80714 semapv:UnspecifiedMatching -OMIM:608129 UBAC1 skos:exactMatch hgnc:UBAC1 semapv:UnspecifiedMatching +OMIM:608129 UBAC1 skos:exactMatch hgnc.symbol:30221 semapv:UnspecifiedMatching +OMIM:608129 UBAC1 skos:exactMatch hgnc.symbol:UBAC1 semapv:UnspecifiedMatching OMIM:608129 UBAC1 skos:exactMatch ncbigene:10422 semapv:UnspecifiedMatching -OMIM:608130 NUAK1 skos:exactMatch hgnc:NUAK1 semapv:UnspecifiedMatching +OMIM:608130 NUAK1 skos:exactMatch hgnc.symbol:14311 semapv:UnspecifiedMatching +OMIM:608130 NUAK1 skos:exactMatch hgnc.symbol:NUAK1 semapv:UnspecifiedMatching OMIM:608130 NUAK1 skos:exactMatch ncbigene:9891 semapv:UnspecifiedMatching -OMIM:608131 NUAK2 skos:exactMatch hgnc:NUAK2 semapv:UnspecifiedMatching +OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:29558 semapv:UnspecifiedMatching +OMIM:608131 NUAK2 skos:exactMatch hgnc.symbol:NUAK2 semapv:UnspecifiedMatching OMIM:608131 NUAK2 skos:exactMatch ncbigene:81788 semapv:UnspecifiedMatching -OMIM:608132 TTC8 skos:exactMatch hgnc:TTC8 semapv:UnspecifiedMatching +OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:20087 semapv:UnspecifiedMatching +OMIM:608132 TTC8 skos:exactMatch hgnc.symbol:TTC8 semapv:UnspecifiedMatching OMIM:608132 TTC8 skos:exactMatch ncbigene:123016 semapv:UnspecifiedMatching -OMIM:608134 PALM skos:exactMatch hgnc:PALM semapv:UnspecifiedMatching +OMIM:608134 PALM skos:exactMatch hgnc.symbol:8594 semapv:UnspecifiedMatching +OMIM:608134 PALM skos:exactMatch hgnc.symbol:PALM semapv:UnspecifiedMatching OMIM:608134 PALM skos:exactMatch ncbigene:5064 semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch UMLS:C1423015 semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch UMLS:C2675551 semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch UMLS:C2675609 semapv:UnspecifiedMatching -OMIM:608135 ASPN skos:exactMatch hgnc:ASPN semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch hgnc.symbol:14872 semapv:UnspecifiedMatching +OMIM:608135 ASPN skos:exactMatch hgnc.symbol:ASPN semapv:UnspecifiedMatching OMIM:608135 ASPN skos:exactMatch ncbigene:54829 semapv:UnspecifiedMatching -OMIM:608136 ARHGEF10 skos:exactMatch hgnc:ARHGEF10 semapv:UnspecifiedMatching +OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:14103 semapv:UnspecifiedMatching +OMIM:608136 ARHGEF10 skos:exactMatch hgnc.symbol:ARHGEF10 semapv:UnspecifiedMatching OMIM:608136 ARHGEF10 skos:exactMatch ncbigene:9639 semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch UMLS:C1428897 semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch UMLS:C4017142 semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch UMLS:C4017143 semapv:UnspecifiedMatching -OMIM:608137 NSMF skos:exactMatch hgnc:NSMF semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch hgnc.symbol:29843 semapv:UnspecifiedMatching +OMIM:608137 NSMF skos:exactMatch hgnc.symbol:NSMF semapv:UnspecifiedMatching OMIM:608137 NSMF skos:exactMatch ncbigene:26012 semapv:UnspecifiedMatching -OMIM:608138 PDCD7 skos:exactMatch hgnc:PDCD7 semapv:UnspecifiedMatching +OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:8767 semapv:UnspecifiedMatching +OMIM:608138 PDCD7 skos:exactMatch hgnc.symbol:PDCD7 semapv:UnspecifiedMatching OMIM:608138 PDCD7 skos:exactMatch ncbigene:10081 semapv:UnspecifiedMatching -OMIM:608139 CENPV skos:exactMatch hgnc:CENPV semapv:UnspecifiedMatching +OMIM:608139 CENPV skos:exactMatch hgnc.symbol:29920 semapv:UnspecifiedMatching +OMIM:608139 CENPV skos:exactMatch hgnc.symbol:CENPV semapv:UnspecifiedMatching OMIM:608139 CENPV skos:exactMatch ncbigene:201161 semapv:UnspecifiedMatching -OMIM:608140 NUP35 skos:exactMatch hgnc:NUP35 semapv:UnspecifiedMatching +OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:29797 semapv:UnspecifiedMatching +OMIM:608140 NUP35 skos:exactMatch hgnc.symbol:NUP35 semapv:UnspecifiedMatching OMIM:608140 NUP35 skos:exactMatch ncbigene:129401 semapv:UnspecifiedMatching -OMIM:608141 NUP43 skos:exactMatch hgnc:NUP43 semapv:UnspecifiedMatching +OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:21182 semapv:UnspecifiedMatching +OMIM:608141 NUP43 skos:exactMatch hgnc.symbol:NUP43 semapv:UnspecifiedMatching OMIM:608141 NUP43 skos:exactMatch ncbigene:348995 semapv:UnspecifiedMatching OMIM:608142 HSCB skos:exactMatch UMLS:C1825526 semapv:UnspecifiedMatching -OMIM:608142 HSCB skos:exactMatch hgnc:HSCB semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch hgnc.symbol:28913 semapv:UnspecifiedMatching +OMIM:608142 HSCB skos:exactMatch hgnc.symbol:HSCB semapv:UnspecifiedMatching OMIM:608142 HSCB skos:exactMatch ncbigene:150274 semapv:UnspecifiedMatching -OMIM:608143 AGPAT6 skos:exactMatch hgnc:GPAT4 semapv:UnspecifiedMatching +OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:20880 semapv:UnspecifiedMatching +OMIM:608143 AGPAT6 skos:exactMatch hgnc.symbol:GPAT4 semapv:UnspecifiedMatching OMIM:608143 AGPAT6 skos:exactMatch ncbigene:137964 semapv:UnspecifiedMatching -OMIM:608144 SPDEF skos:exactMatch hgnc:SPDEF semapv:UnspecifiedMatching +OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:17257 semapv:UnspecifiedMatching +OMIM:608144 SPDEF skos:exactMatch hgnc.symbol:SPDEF semapv:UnspecifiedMatching OMIM:608144 SPDEF skos:exactMatch ncbigene:25803 semapv:UnspecifiedMatching -OMIM:608145 NIPA1 skos:exactMatch hgnc:NIPA1 semapv:UnspecifiedMatching +OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:17043 semapv:UnspecifiedMatching +OMIM:608145 NIPA1 skos:exactMatch hgnc.symbol:NIPA1 semapv:UnspecifiedMatching OMIM:608145 NIPA1 skos:exactMatch ncbigene:123606 semapv:UnspecifiedMatching -OMIM:608146 NIPA2 skos:exactMatch hgnc:NIPA2 semapv:UnspecifiedMatching +OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:17044 semapv:UnspecifiedMatching +OMIM:608146 NIPA2 skos:exactMatch hgnc.symbol:NIPA2 semapv:UnspecifiedMatching OMIM:608146 NIPA2 skos:exactMatch ncbigene:81614 semapv:UnspecifiedMatching -OMIM:608147 TUBGCP5 skos:exactMatch hgnc:TUBGCP5 semapv:UnspecifiedMatching +OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:18600 semapv:UnspecifiedMatching +OMIM:608147 TUBGCP5 skos:exactMatch hgnc.symbol:TUBGCP5 semapv:UnspecifiedMatching OMIM:608147 TUBGCP5 skos:exactMatch ncbigene:114791 semapv:UnspecifiedMatching -OMIM:608148 SATB2 skos:exactMatch hgnc:SATB2 semapv:UnspecifiedMatching +OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:21637 semapv:UnspecifiedMatching +OMIM:608148 SATB2 skos:exactMatch hgnc.symbol:SATB2 semapv:UnspecifiedMatching OMIM:608148 SATB2 skos:exactMatch ncbigene:23314 semapv:UnspecifiedMatching -OMIM:608150 PPHLN1 skos:exactMatch hgnc:PPHLN1 semapv:UnspecifiedMatching +OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:19369 semapv:UnspecifiedMatching +OMIM:608150 PPHLN1 skos:exactMatch hgnc.symbol:PPHLN1 semapv:UnspecifiedMatching OMIM:608150 PPHLN1 skos:exactMatch ncbigene:51535 semapv:UnspecifiedMatching -OMIM:608151 WDR19 skos:exactMatch hgnc:WDR19 semapv:UnspecifiedMatching +OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:18340 semapv:UnspecifiedMatching +OMIM:608151 WDR19 skos:exactMatch hgnc.symbol:WDR19 semapv:UnspecifiedMatching OMIM:608151 WDR19 skos:exactMatch ncbigene:57728 semapv:UnspecifiedMatching -OMIM:608152 PTGES2 skos:exactMatch hgnc:PTGES2 semapv:UnspecifiedMatching +OMIM:608152 PTGES2 skos:exactMatch hgnc.symbol:17822 semapv:UnspecifiedMatching +OMIM:608152 PTGES2 skos:exactMatch hgnc.symbol:PTGES2 semapv:UnspecifiedMatching OMIM:608152 PTGES2 skos:exactMatch ncbigene:80142 semapv:UnspecifiedMatching -OMIM:608153 PPP1R14A skos:exactMatch hgnc:PPP1R14A semapv:UnspecifiedMatching +OMIM:608153 PPP1R14A skos:exactMatch hgnc.symbol:14871 semapv:UnspecifiedMatching +OMIM:608153 PPP1R14A skos:exactMatch hgnc.symbol:PPP1R14A semapv:UnspecifiedMatching OMIM:608153 PPP1R14A skos:exactMatch ncbigene:94274 semapv:UnspecifiedMatching -OMIM:608155 SYNPO skos:exactMatch hgnc:SYNPO semapv:UnspecifiedMatching +OMIM:608155 SYNPO skos:exactMatch hgnc.symbol:30672 semapv:UnspecifiedMatching +OMIM:608155 SYNPO skos:exactMatch hgnc.symbol:SYNPO semapv:UnspecifiedMatching OMIM:608155 SYNPO skos:exactMatch ncbigene:11346 semapv:UnspecifiedMatching -OMIM:608157 SLC25A2 skos:exactMatch hgnc:SLC25A2 semapv:UnspecifiedMatching +OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:22921 semapv:UnspecifiedMatching +OMIM:608157 SLC25A2 skos:exactMatch hgnc.symbol:SLC25A2 semapv:UnspecifiedMatching OMIM:608157 SLC25A2 skos:exactMatch ncbigene:83884 semapv:UnspecifiedMatching -OMIM:608159 PRSS21 skos:exactMatch hgnc:PRSS21 semapv:UnspecifiedMatching +OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:9485 semapv:UnspecifiedMatching +OMIM:608159 PRSS21 skos:exactMatch hgnc.symbol:PRSS21 semapv:UnspecifiedMatching OMIM:608159 PRSS21 skos:exactMatch ncbigene:10942 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C1420331 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C1842462 semapv:UnspecifiedMatching @@ -24864,519 +34462,736 @@ OMIM:608160 SOX9 skos:exactMatch UMLS:C4225331 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C4723824 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C4747386 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch UMLS:C4747387 semapv:UnspecifiedMatching -OMIM:608160 SOX9 skos:exactMatch hgnc:SOX9 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:11204 semapv:UnspecifiedMatching +OMIM:608160 SOX9 skos:exactMatch hgnc.symbol:SOX9 semapv:UnspecifiedMatching OMIM:608160 SOX9 skos:exactMatch ncbigene:6662 semapv:UnspecifiedMatching -OMIM:608162 VTCN1 skos:exactMatch hgnc:VTCN1 semapv:UnspecifiedMatching +OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:28873 semapv:UnspecifiedMatching +OMIM:608162 VTCN1 skos:exactMatch hgnc.symbol:VTCN1 semapv:UnspecifiedMatching OMIM:608162 VTCN1 skos:exactMatch ncbigene:79679 semapv:UnspecifiedMatching OMIM:608163 EXOC7 skos:exactMatch UMLS:C1427993 semapv:UnspecifiedMatching OMIM:608163 EXOC7 skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching -OMIM:608163 EXOC7 skos:exactMatch hgnc:EXOC7 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:23214 semapv:UnspecifiedMatching +OMIM:608163 EXOC7 skos:exactMatch hgnc.symbol:EXOC7 semapv:UnspecifiedMatching OMIM:608163 EXOC7 skos:exactMatch ncbigene:23265 semapv:UnspecifiedMatching -OMIM:608164 KCNV1 skos:exactMatch hgnc:KCNV1 semapv:UnspecifiedMatching +OMIM:608164 KCNV1 skos:exactMatch hgnc.symbol:18861 semapv:UnspecifiedMatching +OMIM:608164 KCNV1 skos:exactMatch hgnc.symbol:KCNV1 semapv:UnspecifiedMatching OMIM:608164 KCNV1 skos:exactMatch ncbigene:27012 semapv:UnspecifiedMatching -OMIM:608165 GULP1 skos:exactMatch hgnc:GULP1 semapv:UnspecifiedMatching +OMIM:608165 GULP1 skos:exactMatch hgnc.symbol:18649 semapv:UnspecifiedMatching +OMIM:608165 GULP1 skos:exactMatch hgnc.symbol:GULP1 semapv:UnspecifiedMatching OMIM:608165 GULP1 skos:exactMatch ncbigene:51454 semapv:UnspecifiedMatching -OMIM:608166 SEMA3E skos:exactMatch hgnc:SEMA3E semapv:UnspecifiedMatching +OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:10727 semapv:UnspecifiedMatching +OMIM:608166 SEMA3E skos:exactMatch hgnc.symbol:SEMA3E semapv:UnspecifiedMatching OMIM:608166 SEMA3E skos:exactMatch ncbigene:9723 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch UMLS:C1425836 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch UMLS:C3554306 semapv:UnspecifiedMatching -OMIM:608167 KCNT1 skos:exactMatch hgnc:KCNT1 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:18865 semapv:UnspecifiedMatching +OMIM:608167 KCNT1 skos:exactMatch hgnc.symbol:KCNT1 semapv:UnspecifiedMatching OMIM:608167 KCNT1 skos:exactMatch ncbigene:57582 semapv:UnspecifiedMatching -OMIM:608168 KCNH6 skos:exactMatch hgnc:KCNH6 semapv:UnspecifiedMatching +OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:18862 semapv:UnspecifiedMatching +OMIM:608168 KCNH6 skos:exactMatch hgnc.symbol:KCNH6 semapv:UnspecifiedMatching OMIM:608168 KCNH6 skos:exactMatch ncbigene:81033 semapv:UnspecifiedMatching -OMIM:608169 KCNH7 skos:exactMatch hgnc:KCNH7 semapv:UnspecifiedMatching +OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:18863 semapv:UnspecifiedMatching +OMIM:608169 KCNH7 skos:exactMatch hgnc.symbol:KCNH7 semapv:UnspecifiedMatching OMIM:608169 KCNH7 skos:exactMatch ncbigene:90134 semapv:UnspecifiedMatching OMIM:608170 DDX41 skos:exactMatch UMLS:C1425698 semapv:UnspecifiedMatching OMIM:608170 DDX41 skos:exactMatch UMLS:C4225520 semapv:UnspecifiedMatching -OMIM:608170 DDX41 skos:exactMatch hgnc:DDX41 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:18674 semapv:UnspecifiedMatching +OMIM:608170 DDX41 skos:exactMatch hgnc.symbol:DDX41 semapv:UnspecifiedMatching OMIM:608170 DDX41 skos:exactMatch ncbigene:51428 semapv:UnspecifiedMatching -OMIM:608171 CACNA2D4 skos:exactMatch hgnc:CACNA2D4 semapv:UnspecifiedMatching +OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:20202 semapv:UnspecifiedMatching +OMIM:608171 CACNA2D4 skos:exactMatch hgnc.symbol:CACNA2D4 semapv:UnspecifiedMatching OMIM:608171 CACNA2D4 skos:exactMatch ncbigene:93589 semapv:UnspecifiedMatching -OMIM:608172 DHDDS skos:exactMatch hgnc:DHDDS semapv:UnspecifiedMatching +OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:20603 semapv:UnspecifiedMatching +OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:DHDDS semapv:UnspecifiedMatching OMIM:608172 DHDDS skos:exactMatch ncbigene:79947 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0694878 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C4017146 semapv:UnspecifiedMatching -OMIM:608177 EXT1 skos:exactMatch hgnc:EXT1 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:3512 semapv:UnspecifiedMatching +OMIM:608177 EXT1 skos:exactMatch hgnc.symbol:EXT1 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch ncbigene:2131 semapv:UnspecifiedMatching -OMIM:608178 LUZP2 skos:exactMatch hgnc:LUZP2 semapv:UnspecifiedMatching +OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:23206 semapv:UnspecifiedMatching +OMIM:608178 LUZP2 skos:exactMatch hgnc.symbol:LUZP2 semapv:UnspecifiedMatching OMIM:608178 LUZP2 skos:exactMatch ncbigene:338645 semapv:UnspecifiedMatching -OMIM:608179 ATCAY skos:exactMatch hgnc:ATCAY semapv:UnspecifiedMatching +OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:779 semapv:UnspecifiedMatching +OMIM:608179 ATCAY skos:exactMatch hgnc.symbol:ATCAY semapv:UnspecifiedMatching OMIM:608179 ATCAY skos:exactMatch ncbigene:85300 semapv:UnspecifiedMatching -OMIM:608181 ACP33 skos:exactMatch hgnc:SPG21 semapv:UnspecifiedMatching +OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:20373 semapv:UnspecifiedMatching +OMIM:608181 ACP33 skos:exactMatch hgnc.symbol:SPG21 semapv:UnspecifiedMatching OMIM:608181 ACP33 skos:exactMatch ncbigene:51324 semapv:UnspecifiedMatching -OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc:KCNIP4 semapv:UnspecifiedMatching +OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:30083 semapv:UnspecifiedMatching +OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch hgnc.symbol:KCNIP4 semapv:UnspecifiedMatching OMIM:608182 potassium channel-interacting protein 4 skos:exactMatch ncbigene:80333 semapv:UnspecifiedMatching OMIM:608183 CHSY1 skos:exactMatch UMLS:C1424814 semapv:UnspecifiedMatching OMIM:608183 CHSY1 skos:exactMatch UMLS:C1854466 semapv:UnspecifiedMatching -OMIM:608183 CHSY1 skos:exactMatch hgnc:CHSY1 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:17198 semapv:UnspecifiedMatching +OMIM:608183 CHSY1 skos:exactMatch hgnc.symbol:CHSY1 semapv:UnspecifiedMatching OMIM:608183 CHSY1 skos:exactMatch ncbigene:22856 semapv:UnspecifiedMatching -OMIM:608185 EXOC4 skos:exactMatch hgnc:EXOC4 semapv:UnspecifiedMatching +OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:30389 semapv:UnspecifiedMatching +OMIM:608185 EXOC4 skos:exactMatch hgnc.symbol:EXOC4 semapv:UnspecifiedMatching OMIM:608185 EXOC4 skos:exactMatch ncbigene:60412 semapv:UnspecifiedMatching -OMIM:608186 EXOC3 skos:exactMatch hgnc:EXOC3 semapv:UnspecifiedMatching +OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:30378 semapv:UnspecifiedMatching +OMIM:608186 EXOC3 skos:exactMatch hgnc.symbol:EXOC3 semapv:UnspecifiedMatching OMIM:608186 EXOC3 skos:exactMatch ncbigene:11336 semapv:UnspecifiedMatching -OMIM:608187 MCM8 skos:exactMatch hgnc:MCM8 semapv:UnspecifiedMatching +OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:16147 semapv:UnspecifiedMatching +OMIM:608187 MCM8 skos:exactMatch hgnc.symbol:MCM8 semapv:UnspecifiedMatching OMIM:608187 MCM8 skos:exactMatch ncbigene:84515 semapv:UnspecifiedMatching -OMIM:608188 CRLS1 skos:exactMatch hgnc:CRLS1 semapv:UnspecifiedMatching +OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:16148 semapv:UnspecifiedMatching +OMIM:608188 CRLS1 skos:exactMatch hgnc.symbol:CRLS1 semapv:UnspecifiedMatching OMIM:608188 CRLS1 skos:exactMatch ncbigene:54675 semapv:UnspecifiedMatching -OMIM:608190 NAT8B skos:exactMatch hgnc:NAT8B semapv:UnspecifiedMatching +OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:30235 semapv:UnspecifiedMatching +OMIM:608190 NAT8B skos:exactMatch hgnc.symbol:NAT8B semapv:UnspecifiedMatching OMIM:608190 NAT8B skos:exactMatch ncbigene:51471 semapv:UnspecifiedMatching OMIM:608191 RBAK skos:exactMatch UMLS:C1826772 semapv:UnspecifiedMatching -OMIM:608191 RBAK skos:exactMatch hgnc:RBAK semapv:UnspecifiedMatching +OMIM:608191 RBAK skos:exactMatch hgnc.symbol:17680 semapv:UnspecifiedMatching +OMIM:608191 RBAK skos:exactMatch hgnc.symbol:RBAK semapv:UnspecifiedMatching OMIM:608191 RBAK skos:exactMatch ncbigene:57786 semapv:UnspecifiedMatching -OMIM:608192 SCYL3 skos:exactMatch hgnc:SCYL3 semapv:UnspecifiedMatching +OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:19285 semapv:UnspecifiedMatching +OMIM:608192 SCYL3 skos:exactMatch hgnc.symbol:SCYL3 semapv:UnspecifiedMatching OMIM:608192 SCYL3 skos:exactMatch ncbigene:57147 semapv:UnspecifiedMatching -OMIM:608193 REC8 skos:exactMatch hgnc:REC8 semapv:UnspecifiedMatching +OMIM:608193 REC8 skos:exactMatch hgnc.symbol:16879 semapv:UnspecifiedMatching +OMIM:608193 REC8 skos:exactMatch hgnc.symbol:REC8 semapv:UnspecifiedMatching OMIM:608193 REC8 skos:exactMatch ncbigene:9985 semapv:UnspecifiedMatching -OMIM:608195 LRRC1 skos:exactMatch hgnc:LRRC1 semapv:UnspecifiedMatching +OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:14307 semapv:UnspecifiedMatching +OMIM:608195 LRRC1 skos:exactMatch hgnc.symbol:LRRC1 semapv:UnspecifiedMatching OMIM:608195 LRRC1 skos:exactMatch ncbigene:55227 semapv:UnspecifiedMatching -OMIM:608196 WRNIP1 skos:exactMatch hgnc:WRNIP1 semapv:UnspecifiedMatching +OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:20876 semapv:UnspecifiedMatching +OMIM:608196 WRNIP1 skos:exactMatch hgnc.symbol:WRNIP1 semapv:UnspecifiedMatching OMIM:608196 WRNIP1 skos:exactMatch ncbigene:56897 semapv:UnspecifiedMatching -OMIM:608197 PGLYRP3 skos:exactMatch hgnc:PGLYRP3 semapv:UnspecifiedMatching +OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:30014 semapv:UnspecifiedMatching +OMIM:608197 PGLYRP3 skos:exactMatch hgnc.symbol:PGLYRP3 semapv:UnspecifiedMatching OMIM:608197 PGLYRP3 skos:exactMatch ncbigene:114771 semapv:UnspecifiedMatching -OMIM:608198 PGLYRP4 skos:exactMatch hgnc:PGLYRP4 semapv:UnspecifiedMatching +OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:30015 semapv:UnspecifiedMatching +OMIM:608198 PGLYRP4 skos:exactMatch hgnc.symbol:PGLYRP4 semapv:UnspecifiedMatching OMIM:608198 PGLYRP4 skos:exactMatch ncbigene:57115 semapv:UnspecifiedMatching -OMIM:608199 PGLYRP2 skos:exactMatch hgnc:PGLYRP2 semapv:UnspecifiedMatching +OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:30013 semapv:UnspecifiedMatching +OMIM:608199 PGLYRP2 skos:exactMatch hgnc.symbol:PGLYRP2 semapv:UnspecifiedMatching OMIM:608199 PGLYRP2 skos:exactMatch ncbigene:114770 semapv:UnspecifiedMatching -OMIM:608200 CDK5RAP1 skos:exactMatch hgnc:CDK5RAP1 semapv:UnspecifiedMatching +OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:15880 semapv:UnspecifiedMatching +OMIM:608200 CDK5RAP1 skos:exactMatch hgnc.symbol:CDK5RAP1 semapv:UnspecifiedMatching OMIM:608200 CDK5RAP1 skos:exactMatch ncbigene:51654 semapv:UnspecifiedMatching -OMIM:608201 CDK5RAP2 skos:exactMatch hgnc:CDK5RAP2 semapv:UnspecifiedMatching +OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:18672 semapv:UnspecifiedMatching +OMIM:608201 CDK5RAP2 skos:exactMatch hgnc.symbol:CDK5RAP2 semapv:UnspecifiedMatching OMIM:608201 CDK5RAP2 skos:exactMatch ncbigene:55755 semapv:UnspecifiedMatching -OMIM:608202 CDK5RAP3 skos:exactMatch hgnc:CDK5RAP3 semapv:UnspecifiedMatching +OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:18673 semapv:UnspecifiedMatching +OMIM:608202 CDK5RAP3 skos:exactMatch hgnc.symbol:CDK5RAP3 semapv:UnspecifiedMatching OMIM:608202 CDK5RAP3 skos:exactMatch ncbigene:80279 semapv:UnspecifiedMatching +OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch UMLS:C1842398 semapv:UnspecifiedMatching -OMIM:608203 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch orphanet.ordo:183707 semapv:UnspecifiedMatching OMIM:608204 UNC93B1 skos:exactMatch UMLS:C1422014 semapv:UnspecifiedMatching OMIM:608204 UNC93B1 skos:exactMatch UMLS:C2750180 semapv:UnspecifiedMatching -OMIM:608204 UNC93B1 skos:exactMatch hgnc:UNC93B1 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:13481 semapv:UnspecifiedMatching +OMIM:608204 UNC93B1 skos:exactMatch hgnc.symbol:UNC93B1 semapv:UnspecifiedMatching OMIM:608204 UNC93B1 skos:exactMatch ncbigene:81622 semapv:UnspecifiedMatching -OMIM:608205 MECR skos:exactMatch hgnc:MECR semapv:UnspecifiedMatching +OMIM:608205 MECR skos:exactMatch hgnc.symbol:19691 semapv:UnspecifiedMatching +OMIM:608205 MECR skos:exactMatch hgnc.symbol:MECR semapv:UnspecifiedMatching OMIM:608205 MECR skos:exactMatch ncbigene:51102 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1539765 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch UMLS:C1866636 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching -OMIM:608206 SH3TC2 skos:exactMatch hgnc:SH3TC2 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:29427 semapv:UnspecifiedMatching +OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:SH3TC2 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch ncbigene:79628 semapv:UnspecifiedMatching -OMIM:608208 MARCHF4 skos:exactMatch hgnc:MARCHF4 semapv:UnspecifiedMatching +OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:29269 semapv:UnspecifiedMatching +OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:MARCHF4 semapv:UnspecifiedMatching OMIM:608208 MARCHF4 skos:exactMatch ncbigene:57574 semapv:UnspecifiedMatching -OMIM:608209 DPP10 skos:exactMatch hgnc:DPP10 semapv:UnspecifiedMatching +OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:20823 semapv:UnspecifiedMatching +OMIM:608209 DPP10 skos:exactMatch hgnc.symbol:DPP10 semapv:UnspecifiedMatching OMIM:608209 DPP10 skos:exactMatch ncbigene:57628 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C0694879 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C1851413 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C4225248 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch UMLS:C5193209 semapv:UnspecifiedMatching -OMIM:608210 EXT2 skos:exactMatch hgnc:EXT2 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:3513 semapv:UnspecifiedMatching +OMIM:608210 EXT2 skos:exactMatch hgnc.symbol:EXT2 semapv:UnspecifiedMatching OMIM:608210 EXT2 skos:exactMatch ncbigene:2132 semapv:UnspecifiedMatching -OMIM:608211 KAAG1 skos:exactMatch hgnc:KAAG1 semapv:UnspecifiedMatching +OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:21031 semapv:UnspecifiedMatching +OMIM:608211 KAAG1 skos:exactMatch hgnc.symbol:KAAG1 semapv:UnspecifiedMatching OMIM:608211 KAAG1 skos:exactMatch ncbigene:353219 semapv:UnspecifiedMatching OMIM:608212 IRGM skos:exactMatch UMLS:C1537424 semapv:UnspecifiedMatching OMIM:608212 IRGM skos:exactMatch UMLS:C2677079 semapv:UnspecifiedMatching -OMIM:608212 IRGM skos:exactMatch hgnc:IRGM semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch hgnc.symbol:29597 semapv:UnspecifiedMatching +OMIM:608212 IRGM skos:exactMatch hgnc.symbol:IRGM semapv:UnspecifiedMatching OMIM:608212 IRGM skos:exactMatch ncbigene:345611 semapv:UnspecifiedMatching -OMIM:608213 CEND1 skos:exactMatch hgnc:CEND1 semapv:UnspecifiedMatching +OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:24153 semapv:UnspecifiedMatching +OMIM:608213 CEND1 skos:exactMatch hgnc.symbol:CEND1 semapv:UnspecifiedMatching OMIM:608213 CEND1 skos:exactMatch ncbigene:51286 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C1427065 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C2751088 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C4013699 semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch UMLS:C4017659 semapv:UnspecifiedMatching -OMIM:608214 SCN3B skos:exactMatch hgnc:SCN3B semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:20665 semapv:UnspecifiedMatching +OMIM:608214 SCN3B skos:exactMatch hgnc.symbol:SCN3B semapv:UnspecifiedMatching OMIM:608214 SCN3B skos:exactMatch ncbigene:55800 semapv:UnspecifiedMatching -OMIM:608215 LHX6 skos:exactMatch hgnc:LHX6 semapv:UnspecifiedMatching +OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:21735 semapv:UnspecifiedMatching +OMIM:608215 LHX6 skos:exactMatch hgnc.symbol:LHX6 semapv:UnspecifiedMatching OMIM:608215 LHX6 skos:exactMatch ncbigene:26468 semapv:UnspecifiedMatching -OMIM:608216 COMMD5 skos:exactMatch hgnc:COMMD5 semapv:UnspecifiedMatching +OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:17902 semapv:UnspecifiedMatching +OMIM:608216 COMMD5 skos:exactMatch hgnc.symbol:COMMD5 semapv:UnspecifiedMatching OMIM:608216 COMMD5 skos:exactMatch ncbigene:28991 semapv:UnspecifiedMatching -OMIM:608218 KRT20 skos:exactMatch hgnc:KRT20 semapv:UnspecifiedMatching +OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:20412 semapv:UnspecifiedMatching +OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:KRT20 semapv:UnspecifiedMatching OMIM:608218 KRT20 skos:exactMatch ncbigene:54474 semapv:UnspecifiedMatching -OMIM:608221 MASTL skos:exactMatch hgnc:MASTL semapv:UnspecifiedMatching +OMIM:608221 MASTL skos:exactMatch hgnc.symbol:19042 semapv:UnspecifiedMatching +OMIM:608221 MASTL skos:exactMatch hgnc.symbol:MASTL semapv:UnspecifiedMatching OMIM:608221 MASTL skos:exactMatch ncbigene:84930 semapv:UnspecifiedMatching -OMIM:608222 ADSL skos:exactMatch hgnc:ADSL semapv:UnspecifiedMatching +OMIM:608222 ADSL skos:exactMatch hgnc.symbol:291 semapv:UnspecifiedMatching +OMIM:608222 ADSL skos:exactMatch hgnc.symbol:ADSL semapv:UnspecifiedMatching OMIM:608222 ADSL skos:exactMatch ncbigene:158 semapv:UnspecifiedMatching -OMIM:608225 GALNT14 skos:exactMatch hgnc:GALNT14 semapv:UnspecifiedMatching +OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:22946 semapv:UnspecifiedMatching +OMIM:608225 GALNT14 skos:exactMatch hgnc.symbol:GALNT14 semapv:UnspecifiedMatching OMIM:608225 GALNT14 skos:exactMatch ncbigene:79623 semapv:UnspecifiedMatching -OMIM:608226 NANOS1 skos:exactMatch hgnc:NANOS1 semapv:UnspecifiedMatching +OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:23044 semapv:UnspecifiedMatching +OMIM:608226 NANOS1 skos:exactMatch hgnc.symbol:NANOS1 semapv:UnspecifiedMatching OMIM:608226 NANOS1 skos:exactMatch ncbigene:340719 semapv:UnspecifiedMatching -OMIM:608228 NANOS2 skos:exactMatch hgnc:NANOS2 semapv:UnspecifiedMatching +OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:23292 semapv:UnspecifiedMatching +OMIM:608228 NANOS2 skos:exactMatch hgnc.symbol:NANOS2 semapv:UnspecifiedMatching OMIM:608228 NANOS2 skos:exactMatch ncbigene:339345 semapv:UnspecifiedMatching -OMIM:608229 NANOS3 skos:exactMatch hgnc:NANOS3 semapv:UnspecifiedMatching +OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:22048 semapv:UnspecifiedMatching +OMIM:608229 NANOS3 skos:exactMatch hgnc.symbol:NANOS3 semapv:UnspecifiedMatching OMIM:608229 NANOS3 skos:exactMatch ncbigene:342977 semapv:UnspecifiedMatching -OMIM:608230 CACNA1I skos:exactMatch hgnc:CACNA1I semapv:UnspecifiedMatching +OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:1396 semapv:UnspecifiedMatching +OMIM:608230 CACNA1I skos:exactMatch hgnc.symbol:CACNA1I semapv:UnspecifiedMatching OMIM:608230 CACNA1I skos:exactMatch ncbigene:8911 semapv:UnspecifiedMatching -OMIM:608231 RASSF8 skos:exactMatch hgnc:RASSF8 semapv:UnspecifiedMatching +OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:13232 semapv:UnspecifiedMatching +OMIM:608231 RASSF8 skos:exactMatch hgnc.symbol:RASSF8 semapv:UnspecifiedMatching OMIM:608231 RASSF8 skos:exactMatch ncbigene:11228 semapv:UnspecifiedMatching -OMIM:608234 GAL3ST3 skos:exactMatch hgnc:GAL3ST3 semapv:UnspecifiedMatching +OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:24144 semapv:UnspecifiedMatching +OMIM:608234 GAL3ST3 skos:exactMatch hgnc.symbol:GAL3ST3 semapv:UnspecifiedMatching OMIM:608234 GAL3ST3 skos:exactMatch ncbigene:89792 semapv:UnspecifiedMatching -OMIM:608235 GAL3ST4 skos:exactMatch hgnc:GAL3ST4 semapv:UnspecifiedMatching +OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:24145 semapv:UnspecifiedMatching +OMIM:608235 GAL3ST4 skos:exactMatch hgnc.symbol:GAL3ST4 semapv:UnspecifiedMatching OMIM:608235 GAL3ST4 skos:exactMatch ncbigene:79690 semapv:UnspecifiedMatching -OMIM:608237 GAL3ST2 skos:exactMatch hgnc:GAL3ST2 semapv:UnspecifiedMatching +OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:24869 semapv:UnspecifiedMatching +OMIM:608237 GAL3ST2 skos:exactMatch hgnc.symbol:GAL3ST2 semapv:UnspecifiedMatching OMIM:608237 GAL3ST2 skos:exactMatch ncbigene:64090 semapv:UnspecifiedMatching -OMIM:608238 SPPL2A skos:exactMatch hgnc:SPPL2A semapv:UnspecifiedMatching +OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:30227 semapv:UnspecifiedMatching +OMIM:608238 SPPL2A skos:exactMatch hgnc.symbol:SPPL2A semapv:UnspecifiedMatching OMIM:608238 SPPL2A skos:exactMatch ncbigene:84888 semapv:UnspecifiedMatching -OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc:SPPL2B semapv:UnspecifiedMatching +OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:30627 semapv:UnspecifiedMatching +OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch hgnc.symbol:SPPL2B semapv:UnspecifiedMatching OMIM:608239 signal peptide peptidase-like 2b skos:exactMatch ncbigene:56928 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch UMLS:C1842354 semapv:UnspecifiedMatching -OMIM:608240 SPPL3 skos:exactMatch hgnc:SPPL3 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:30424 semapv:UnspecifiedMatching +OMIM:608240 SPPL3 skos:exactMatch hgnc.symbol:SPPL3 semapv:UnspecifiedMatching OMIM:608240 SPPL3 skos:exactMatch ncbigene:121665 semapv:UnspecifiedMatching -OMIM:608241 SNIP1 skos:exactMatch hgnc:SNIP1 semapv:UnspecifiedMatching +OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:30587 semapv:UnspecifiedMatching +OMIM:608241 SNIP1 skos:exactMatch hgnc.symbol:SNIP1 semapv:UnspecifiedMatching OMIM:608241 SNIP1 skos:exactMatch ncbigene:79753 semapv:UnspecifiedMatching -OMIM:608242 HERC5 skos:exactMatch hgnc:HERC5 semapv:UnspecifiedMatching +OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:24368 semapv:UnspecifiedMatching +OMIM:608242 HERC5 skos:exactMatch hgnc.symbol:HERC5 semapv:UnspecifiedMatching OMIM:608242 HERC5 skos:exactMatch ncbigene:51191 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch UMLS:C1417615 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching -OMIM:608243 NSMCE3 skos:exactMatch hgnc:NSMCE3 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:7677 semapv:UnspecifiedMatching +OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:NSMCE3 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch ncbigene:56160 semapv:UnspecifiedMatching -OMIM:608245 KRT71 skos:exactMatch hgnc:KRT71 semapv:UnspecifiedMatching +OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:28927 semapv:UnspecifiedMatching +OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:KRT71 semapv:UnspecifiedMatching OMIM:608245 KRT71 skos:exactMatch ncbigene:112802 semapv:UnspecifiedMatching -OMIM:608246 KRT72 skos:exactMatch hgnc:KRT72 semapv:UnspecifiedMatching +OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:28932 semapv:UnspecifiedMatching +OMIM:608246 KRT72 skos:exactMatch hgnc.symbol:KRT72 semapv:UnspecifiedMatching OMIM:608246 KRT72 skos:exactMatch ncbigene:140807 semapv:UnspecifiedMatching -OMIM:608247 KRT73 skos:exactMatch hgnc:KRT73 semapv:UnspecifiedMatching +OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:28928 semapv:UnspecifiedMatching +OMIM:608247 KRT73 skos:exactMatch hgnc.symbol:KRT73 semapv:UnspecifiedMatching OMIM:608247 KRT73 skos:exactMatch ncbigene:319101 semapv:UnspecifiedMatching -OMIM:608248 KRT74 skos:exactMatch hgnc:KRT74 semapv:UnspecifiedMatching +OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:28929 semapv:UnspecifiedMatching +OMIM:608248 KRT74 skos:exactMatch hgnc.symbol:KRT74 semapv:UnspecifiedMatching OMIM:608248 KRT74 skos:exactMatch ncbigene:121391 semapv:UnspecifiedMatching -OMIM:608249 CCNB1IP1 skos:exactMatch hgnc:CCNB1IP1 semapv:UnspecifiedMatching +OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:19437 semapv:UnspecifiedMatching +OMIM:608249 CCNB1IP1 skos:exactMatch hgnc.symbol:CCNB1IP1 semapv:UnspecifiedMatching OMIM:608249 CCNB1IP1 skos:exactMatch ncbigene:57820 semapv:UnspecifiedMatching -OMIM:608250 SUDS3 skos:exactMatch hgnc:SUDS3 semapv:UnspecifiedMatching +OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:29545 semapv:UnspecifiedMatching +OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:SUDS3 semapv:UnspecifiedMatching OMIM:608250 SUDS3 skos:exactMatch ncbigene:64426 semapv:UnspecifiedMatching -OMIM:608252 AFAP1 skos:exactMatch hgnc:AFAP1 semapv:UnspecifiedMatching +OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:24017 semapv:UnspecifiedMatching +OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:AFAP1 semapv:UnspecifiedMatching OMIM:608252 AFAP1 skos:exactMatch ncbigene:60312 semapv:UnspecifiedMatching -OMIM:608253 TSKS skos:exactMatch hgnc:TSKS semapv:UnspecifiedMatching +OMIM:608253 TSKS skos:exactMatch hgnc.symbol:30719 semapv:UnspecifiedMatching +OMIM:608253 TSKS skos:exactMatch hgnc.symbol:TSKS semapv:UnspecifiedMatching OMIM:608253 TSKS skos:exactMatch ncbigene:60385 semapv:UnspecifiedMatching -OMIM:608254 PAXIP1 skos:exactMatch hgnc:PAXIP1 semapv:UnspecifiedMatching +OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:8624 semapv:UnspecifiedMatching +OMIM:608254 PAXIP1 skos:exactMatch hgnc.symbol:PAXIP1 semapv:UnspecifiedMatching OMIM:608254 PAXIP1 skos:exactMatch ncbigene:22976 semapv:UnspecifiedMatching -OMIM:608255 TRAF3IP3 skos:exactMatch hgnc:TRAF3IP3 semapv:UnspecifiedMatching +OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:30766 semapv:UnspecifiedMatching +OMIM:608255 TRAF3IP3 skos:exactMatch hgnc.symbol:TRAF3IP3 semapv:UnspecifiedMatching OMIM:608255 TRAF3IP3 skos:exactMatch ncbigene:80342 semapv:UnspecifiedMatching OMIM:608256 SCN4B skos:exactMatch UMLS:C1419863 semapv:UnspecifiedMatching OMIM:608256 SCN4B skos:exactMatch UMLS:C2678484 semapv:UnspecifiedMatching OMIM:608256 SCN4B skos:exactMatch UMLS:C4013560 semapv:UnspecifiedMatching -OMIM:608256 SCN4B skos:exactMatch hgnc:SCN4B semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:10592 semapv:UnspecifiedMatching +OMIM:608256 SCN4B skos:exactMatch hgnc.symbol:SCN4B semapv:UnspecifiedMatching OMIM:608256 SCN4B skos:exactMatch ncbigene:6330 semapv:UnspecifiedMatching -OMIM:608258 DPP9 skos:exactMatch hgnc:DPP9 semapv:UnspecifiedMatching +OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:18648 semapv:UnspecifiedMatching +OMIM:608258 DPP9 skos:exactMatch hgnc.symbol:DPP9 semapv:UnspecifiedMatching OMIM:608258 DPP9 skos:exactMatch ncbigene:91039 semapv:UnspecifiedMatching OMIM:608259 IGF2BP3 skos:exactMatch UMLS:C1825578 semapv:UnspecifiedMatching -OMIM:608259 IGF2BP3 skos:exactMatch hgnc:IGF2BP3 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:28868 semapv:UnspecifiedMatching +OMIM:608259 IGF2BP3 skos:exactMatch hgnc.symbol:IGF2BP3 semapv:UnspecifiedMatching OMIM:608259 IGF2BP3 skos:exactMatch ncbigene:10643 semapv:UnspecifiedMatching -OMIM:608260 KCNH8 skos:exactMatch hgnc:KCNH8 semapv:UnspecifiedMatching +OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:18864 semapv:UnspecifiedMatching +OMIM:608260 KCNH8 skos:exactMatch hgnc.symbol:KCNH8 semapv:UnspecifiedMatching OMIM:608260 KCNH8 skos:exactMatch ncbigene:131096 semapv:UnspecifiedMatching OMIM:608261 SENP2 skos:exactMatch UMLS:C1427927 semapv:UnspecifiedMatching -OMIM:608261 SENP2 skos:exactMatch hgnc:SENP2 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:23116 semapv:UnspecifiedMatching +OMIM:608261 SENP2 skos:exactMatch hgnc.symbol:SENP2 semapv:UnspecifiedMatching OMIM:608261 SENP2 skos:exactMatch ncbigene:59343 semapv:UnspecifiedMatching -OMIM:608262 DIRC3 skos:exactMatch hgnc:DIRC3 semapv:UnspecifiedMatching +OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:17805 semapv:UnspecifiedMatching +OMIM:608262 DIRC3 skos:exactMatch hgnc.symbol:DIRC3 semapv:UnspecifiedMatching OMIM:608262 DIRC3 skos:exactMatch ncbigene:729582 semapv:UnspecifiedMatching -OMIM:608263 HSPBAP1 skos:exactMatch hgnc:HSPBAP1 semapv:UnspecifiedMatching +OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:16389 semapv:UnspecifiedMatching +OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:HSPBAP1 semapv:UnspecifiedMatching OMIM:608263 HSPBAP1 skos:exactMatch ncbigene:79663 semapv:UnspecifiedMatching -OMIM:608267 RRAGC skos:exactMatch hgnc:RRAGC semapv:UnspecifiedMatching +OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:19902 semapv:UnspecifiedMatching +OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:RRAGC semapv:UnspecifiedMatching OMIM:608267 RRAGC skos:exactMatch ncbigene:64121 semapv:UnspecifiedMatching -OMIM:608268 RRAGD skos:exactMatch hgnc:RRAGD semapv:UnspecifiedMatching +OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:19903 semapv:UnspecifiedMatching +OMIM:608268 RRAGD skos:exactMatch hgnc.symbol:RRAGD semapv:UnspecifiedMatching OMIM:608268 RRAGD skos:exactMatch ncbigene:58528 semapv:UnspecifiedMatching -OMIM:608269 SLC28A3 skos:exactMatch hgnc:SLC28A3 semapv:UnspecifiedMatching +OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:16484 semapv:UnspecifiedMatching +OMIM:608269 SLC28A3 skos:exactMatch hgnc.symbol:SLC28A3 semapv:UnspecifiedMatching OMIM:608269 SLC28A3 skos:exactMatch ncbigene:64078 semapv:UnspecifiedMatching OMIM:608270 TASP1 skos:exactMatch UMLS:C1823228 semapv:UnspecifiedMatching OMIM:608270 TASP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608270 TASP1 skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching -OMIM:608270 TASP1 skos:exactMatch hgnc:TASP1 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:15859 semapv:UnspecifiedMatching +OMIM:608270 TASP1 skos:exactMatch hgnc.symbol:TASP1 semapv:UnspecifiedMatching OMIM:608270 TASP1 skos:exactMatch ncbigene:55617 semapv:UnspecifiedMatching OMIM:608271 MACF1 skos:exactMatch UMLS:C1422134 semapv:UnspecifiedMatching OMIM:608271 MACF1 skos:exactMatch UMLS:C5193029 semapv:UnspecifiedMatching -OMIM:608271 MACF1 skos:exactMatch hgnc:MACF1 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:13664 semapv:UnspecifiedMatching +OMIM:608271 MACF1 skos:exactMatch hgnc.symbol:MACF1 semapv:UnspecifiedMatching OMIM:608271 MACF1 skos:exactMatch ncbigene:23499 semapv:UnspecifiedMatching -OMIM:608272 NEU1 skos:exactMatch hgnc:NEU1 semapv:UnspecifiedMatching +OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:7758 semapv:UnspecifiedMatching +OMIM:608272 NEU1 skos:exactMatch hgnc.symbol:NEU1 semapv:UnspecifiedMatching OMIM:608272 NEU1 skos:exactMatch ncbigene:4758 semapv:UnspecifiedMatching -OMIM:608273 IL27 skos:exactMatch hgnc:IL27 semapv:UnspecifiedMatching +OMIM:608273 IL27 skos:exactMatch hgnc.symbol:19157 semapv:UnspecifiedMatching +OMIM:608273 IL27 skos:exactMatch hgnc.symbol:IL27 semapv:UnspecifiedMatching OMIM:608273 IL27 skos:exactMatch ncbigene:246778 semapv:UnspecifiedMatching -OMIM:608274 PRMT6 skos:exactMatch hgnc:PRMT6 semapv:UnspecifiedMatching +OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:18241 semapv:UnspecifiedMatching +OMIM:608274 PRMT6 skos:exactMatch hgnc.symbol:PRMT6 semapv:UnspecifiedMatching OMIM:608274 PRMT6 skos:exactMatch ncbigene:55170 semapv:UnspecifiedMatching -OMIM:608275 SLC22A15 skos:exactMatch hgnc:SLC22A15 semapv:UnspecifiedMatching +OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:20301 semapv:UnspecifiedMatching +OMIM:608275 SLC22A15 skos:exactMatch hgnc.symbol:SLC22A15 semapv:UnspecifiedMatching OMIM:608275 SLC22A15 skos:exactMatch ncbigene:55356 semapv:UnspecifiedMatching -OMIM:608276 SLC22A16 skos:exactMatch hgnc:SLC22A16 semapv:UnspecifiedMatching +OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:20302 semapv:UnspecifiedMatching +OMIM:608276 SLC22A16 skos:exactMatch hgnc.symbol:SLC22A16 semapv:UnspecifiedMatching OMIM:608276 SLC22A16 skos:exactMatch ncbigene:85413 semapv:UnspecifiedMatching -OMIM:608277 CHST15 skos:exactMatch hgnc:CHST15 semapv:UnspecifiedMatching +OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:18137 semapv:UnspecifiedMatching +OMIM:608277 CHST15 skos:exactMatch hgnc.symbol:CHST15 semapv:UnspecifiedMatching OMIM:608277 CHST15 skos:exactMatch ncbigene:51363 semapv:UnspecifiedMatching -OMIM:608280 GAS5 skos:exactMatch hgnc:GAS5 semapv:UnspecifiedMatching +OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:16355 semapv:UnspecifiedMatching +OMIM:608280 GAS5 skos:exactMatch hgnc.symbol:GAS5 semapv:UnspecifiedMatching OMIM:608280 GAS5 skos:exactMatch ncbigene:60674 semapv:UnspecifiedMatching -OMIM:608282 TAAR9 skos:exactMatch hgnc:TAAR9 semapv:UnspecifiedMatching +OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:20977 semapv:UnspecifiedMatching +OMIM:608282 TAAR9 skos:exactMatch hgnc.symbol:TAAR9 semapv:UnspecifiedMatching OMIM:608282 TAAR9 skos:exactMatch ncbigene:134860 semapv:UnspecifiedMatching -OMIM:608283 KIF21A skos:exactMatch hgnc:KIF21A semapv:UnspecifiedMatching +OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:19349 semapv:UnspecifiedMatching +OMIM:608283 KIF21A skos:exactMatch hgnc.symbol:KIF21A semapv:UnspecifiedMatching OMIM:608283 KIF21A skos:exactMatch ncbigene:55605 semapv:UnspecifiedMatching -OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc:SPPL2C semapv:UnspecifiedMatching +OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:28902 semapv:UnspecifiedMatching +OMIM:608284 intramembrane protease 5 skos:exactMatch hgnc.symbol:SPPL2C semapv:UnspecifiedMatching OMIM:608284 intramembrane protease 5 skos:exactMatch ncbigene:162540 semapv:UnspecifiedMatching OMIM:608285 NADSYN1 skos:exactMatch UMLS:C1826343 semapv:UnspecifiedMatching OMIM:608285 NADSYN1 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching -OMIM:608285 NADSYN1 skos:exactMatch hgnc:NADSYN1 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:29832 semapv:UnspecifiedMatching +OMIM:608285 NADSYN1 skos:exactMatch hgnc.symbol:NADSYN1 semapv:UnspecifiedMatching OMIM:608285 NADSYN1 skos:exactMatch ncbigene:55191 semapv:UnspecifiedMatching -OMIM:608286 PCDH10 skos:exactMatch hgnc:PCDH10 semapv:UnspecifiedMatching +OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:13404 semapv:UnspecifiedMatching +OMIM:608286 PCDH10 skos:exactMatch hgnc.symbol:PCDH10 semapv:UnspecifiedMatching OMIM:608286 PCDH10 skos:exactMatch ncbigene:57575 semapv:UnspecifiedMatching OMIM:608287 PCDH18 skos:exactMatch UMLS:C1422528 semapv:UnspecifiedMatching -OMIM:608287 PCDH18 skos:exactMatch hgnc:PCDH18 semapv:UnspecifiedMatching +OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:14268 semapv:UnspecifiedMatching +OMIM:608287 PCDH18 skos:exactMatch hgnc.symbol:PCDH18 semapv:UnspecifiedMatching OMIM:608287 PCDH18 skos:exactMatch ncbigene:54510 semapv:UnspecifiedMatching -OMIM:608288 IGF2BP1 skos:exactMatch hgnc:IGF2BP1 semapv:UnspecifiedMatching +OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:28866 semapv:UnspecifiedMatching +OMIM:608288 IGF2BP1 skos:exactMatch hgnc.symbol:IGF2BP1 semapv:UnspecifiedMatching OMIM:608288 IGF2BP1 skos:exactMatch ncbigene:10642 semapv:UnspecifiedMatching OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C1825577 semapv:UnspecifiedMatching OMIM:608289 IGF2BP2 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching -OMIM:608289 IGF2BP2 skos:exactMatch hgnc:IGF2BP2 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:28867 semapv:UnspecifiedMatching +OMIM:608289 IGF2BP2 skos:exactMatch hgnc.symbol:IGF2BP2 semapv:UnspecifiedMatching OMIM:608289 IGF2BP2 skos:exactMatch ncbigene:10644 semapv:UnspecifiedMatching -OMIM:608291 TTL skos:exactMatch hgnc:TTL semapv:UnspecifiedMatching +OMIM:608291 TTL skos:exactMatch hgnc.symbol:21586 semapv:UnspecifiedMatching +OMIM:608291 TTL skos:exactMatch hgnc.symbol:TTL semapv:UnspecifiedMatching OMIM:608291 TTL skos:exactMatch ncbigene:150465 semapv:UnspecifiedMatching -OMIM:608292 STOML2 skos:exactMatch hgnc:STOML2 semapv:UnspecifiedMatching +OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:14559 semapv:UnspecifiedMatching +OMIM:608292 STOML2 skos:exactMatch hgnc.symbol:STOML2 semapv:UnspecifiedMatching OMIM:608292 STOML2 skos:exactMatch ncbigene:30968 semapv:UnspecifiedMatching -OMIM:608293 ARHGAP17 skos:exactMatch hgnc:ARHGAP17 semapv:UnspecifiedMatching +OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:18239 semapv:UnspecifiedMatching +OMIM:608293 ARHGAP17 skos:exactMatch hgnc.symbol:ARHGAP17 semapv:UnspecifiedMatching OMIM:608293 ARHGAP17 skos:exactMatch ncbigene:55114 semapv:UnspecifiedMatching -OMIM:608294 NME6 skos:exactMatch hgnc:NME6 semapv:UnspecifiedMatching +OMIM:608294 NME6 skos:exactMatch hgnc.symbol:20567 semapv:UnspecifiedMatching +OMIM:608294 NME6 skos:exactMatch hgnc.symbol:NME6 semapv:UnspecifiedMatching OMIM:608294 NME6 skos:exactMatch ncbigene:10201 semapv:UnspecifiedMatching -OMIM:608295 FAM107A skos:exactMatch hgnc:FAM107A semapv:UnspecifiedMatching +OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:30827 semapv:UnspecifiedMatching +OMIM:608295 FAM107A skos:exactMatch hgnc.symbol:FAM107A semapv:UnspecifiedMatching OMIM:608295 FAM107A skos:exactMatch ncbigene:11170 semapv:UnspecifiedMatching -OMIM:608296 FIBP skos:exactMatch hgnc:FIBP semapv:UnspecifiedMatching +OMIM:608296 FIBP skos:exactMatch hgnc.symbol:3705 semapv:UnspecifiedMatching +OMIM:608296 FIBP skos:exactMatch hgnc.symbol:FIBP semapv:UnspecifiedMatching OMIM:608296 FIBP skos:exactMatch ncbigene:9158 semapv:UnspecifiedMatching OMIM:608298 CCDS80 skos:exactMatch UMLS:C1824605 semapv:UnspecifiedMatching -OMIM:608298 CCDS80 skos:exactMatch hgnc:CCDC80 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:30649 semapv:UnspecifiedMatching +OMIM:608298 CCDS80 skos:exactMatch hgnc.symbol:CCDC80 semapv:UnspecifiedMatching OMIM:608298 CCDS80 skos:exactMatch ncbigene:151887 semapv:UnspecifiedMatching -OMIM:608299 RNF34 skos:exactMatch hgnc:RNF34 semapv:UnspecifiedMatching +OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:17297 semapv:UnspecifiedMatching +OMIM:608299 RNF34 skos:exactMatch hgnc.symbol:RNF34 semapv:UnspecifiedMatching OMIM:608299 RNF34 skos:exactMatch ncbigene:80196 semapv:UnspecifiedMatching -OMIM:608300 NAGS skos:exactMatch hgnc:NAGS semapv:UnspecifiedMatching +OMIM:608300 NAGS skos:exactMatch hgnc.symbol:17996 semapv:UnspecifiedMatching +OMIM:608300 NAGS skos:exactMatch hgnc.symbol:NAGS semapv:UnspecifiedMatching OMIM:608300 NAGS skos:exactMatch ncbigene:162417 semapv:UnspecifiedMatching -OMIM:608301 LGI2 skos:exactMatch hgnc:LGI2 semapv:UnspecifiedMatching +OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:18710 semapv:UnspecifiedMatching +OMIM:608301 LGI2 skos:exactMatch hgnc.symbol:LGI2 semapv:UnspecifiedMatching OMIM:608301 LGI2 skos:exactMatch ncbigene:55203 semapv:UnspecifiedMatching -OMIM:608302 LGI3 skos:exactMatch hgnc:LGI3 semapv:UnspecifiedMatching +OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:18711 semapv:UnspecifiedMatching +OMIM:608302 LGI3 skos:exactMatch hgnc.symbol:LGI3 semapv:UnspecifiedMatching OMIM:608302 LGI3 skos:exactMatch ncbigene:203190 semapv:UnspecifiedMatching OMIM:608303 LGI4 skos:exactMatch UMLS:C1425731 semapv:UnspecifiedMatching OMIM:608303 LGI4 skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching -OMIM:608303 LGI4 skos:exactMatch hgnc:LGI4 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:18712 semapv:UnspecifiedMatching +OMIM:608303 LGI4 skos:exactMatch hgnc.symbol:LGI4 semapv:UnspecifiedMatching OMIM:608303 LGI4 skos:exactMatch ncbigene:163175 semapv:UnspecifiedMatching -OMIM:608304 CTAG3 skos:exactMatch hgnc:CAGE1 semapv:UnspecifiedMatching +OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:21622 semapv:UnspecifiedMatching +OMIM:608304 CTAG3 skos:exactMatch hgnc.symbol:CAGE1 semapv:UnspecifiedMatching OMIM:608304 CTAG3 skos:exactMatch ncbigene:285782 semapv:UnspecifiedMatching OMIM:608305 SLC13A5 skos:exactMatch UMLS:C1427906 semapv:UnspecifiedMatching OMIM:608305 SLC13A5 skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching -OMIM:608305 SLC13A5 skos:exactMatch hgnc:SLC13A5 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:23089 semapv:UnspecifiedMatching +OMIM:608305 SLC13A5 skos:exactMatch hgnc.symbol:SLC13A5 semapv:UnspecifiedMatching OMIM:608305 SLC13A5 skos:exactMatch ncbigene:284111 semapv:UnspecifiedMatching -OMIM:608306 SP8 skos:exactMatch hgnc:SP8 semapv:UnspecifiedMatching +OMIM:608306 SP8 skos:exactMatch hgnc.symbol:19196 semapv:UnspecifiedMatching +OMIM:608306 SP8 skos:exactMatch hgnc.symbol:SP8 semapv:UnspecifiedMatching OMIM:608306 SP8 skos:exactMatch ncbigene:221833 semapv:UnspecifiedMatching -OMIM:608307 CPS1 skos:exactMatch hgnc:CPS1 semapv:UnspecifiedMatching +OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:2323 semapv:UnspecifiedMatching +OMIM:608307 CPS1 skos:exactMatch hgnc.symbol:CPS1 semapv:UnspecifiedMatching OMIM:608307 CPS1 skos:exactMatch ncbigene:1373 semapv:UnspecifiedMatching -OMIM:608308 ABTB1 skos:exactMatch hgnc:ABTB1 semapv:UnspecifiedMatching +OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:18275 semapv:UnspecifiedMatching +OMIM:608308 ABTB1 skos:exactMatch hgnc.symbol:ABTB1 semapv:UnspecifiedMatching OMIM:608308 ABTB1 skos:exactMatch ncbigene:80325 semapv:UnspecifiedMatching OMIM:608309 PINK1 skos:exactMatch UMLS:C1422771 semapv:UnspecifiedMatching OMIM:608309 PINK1 skos:exactMatch UMLS:C1853833 semapv:UnspecifiedMatching OMIM:608309 PINK1 skos:exactMatch UMLS:C1970035 semapv:UnspecifiedMatching -OMIM:608309 PINK1 skos:exactMatch hgnc:PINK1 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:14581 semapv:UnspecifiedMatching +OMIM:608309 PINK1 skos:exactMatch hgnc.symbol:PINK1 semapv:UnspecifiedMatching OMIM:608309 PINK1 skos:exactMatch ncbigene:65018 semapv:UnspecifiedMatching -OMIM:608310 ASL skos:exactMatch hgnc:ASL semapv:UnspecifiedMatching +OMIM:608310 ASL skos:exactMatch hgnc.symbol:746 semapv:UnspecifiedMatching +OMIM:608310 ASL skos:exactMatch hgnc.symbol:ASL semapv:UnspecifiedMatching OMIM:608310 ASL skos:exactMatch ncbigene:435 semapv:UnspecifiedMatching -OMIM:608311 GRINL1B skos:exactMatch hgnc:POLR2MP1 semapv:UnspecifiedMatching +OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:15712 semapv:UnspecifiedMatching +OMIM:608311 GRINL1B skos:exactMatch hgnc.symbol:POLR2MP1 semapv:UnspecifiedMatching OMIM:608311 GRINL1B skos:exactMatch ncbigene:339970 semapv:UnspecifiedMatching -OMIM:608312 POLR1F skos:exactMatch hgnc:POLR1F semapv:UnspecifiedMatching +OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:18027 semapv:UnspecifiedMatching +OMIM:608312 POLR1F skos:exactMatch hgnc.symbol:POLR1F semapv:UnspecifiedMatching OMIM:608312 POLR1F skos:exactMatch ncbigene:221830 semapv:UnspecifiedMatching -OMIM:608313 ARG1 skos:exactMatch hgnc:ARG1 semapv:UnspecifiedMatching +OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:663 semapv:UnspecifiedMatching +OMIM:608313 ARG1 skos:exactMatch hgnc.symbol:ARG1 semapv:UnspecifiedMatching OMIM:608313 ARG1 skos:exactMatch ncbigene:383 semapv:UnspecifiedMatching -OMIM:608314 SEPT3 skos:exactMatch hgnc:SEPTIN3 semapv:UnspecifiedMatching +OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:10750 semapv:UnspecifiedMatching +OMIM:608314 SEPT3 skos:exactMatch hgnc.symbol:SEPTIN3 semapv:UnspecifiedMatching OMIM:608314 SEPT3 skos:exactMatch ncbigene:55964 semapv:UnspecifiedMatching -OMIM:608315 EAF1 skos:exactMatch hgnc:EAF1 semapv:UnspecifiedMatching +OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:20907 semapv:UnspecifiedMatching +OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:EAF1 semapv:UnspecifiedMatching OMIM:608315 EAF1 skos:exactMatch ncbigene:85403 semapv:UnspecifiedMatching -OMIM:608317 GRHL3 skos:exactMatch hgnc:GRHL3 semapv:UnspecifiedMatching +OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:25839 semapv:UnspecifiedMatching +OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:GRHL3 semapv:UnspecifiedMatching OMIM:608317 GRHL3 skos:exactMatch ncbigene:57822 semapv:UnspecifiedMatching -OMIM:608321 TICAM2 skos:exactMatch hgnc:TICAM2 semapv:UnspecifiedMatching +OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:21354 semapv:UnspecifiedMatching +OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:TICAM2 semapv:UnspecifiedMatching OMIM:608321 TICAM2 skos:exactMatch ncbigene:353376 semapv:UnspecifiedMatching -OMIM:608322 KIF21B skos:exactMatch hgnc:KIF21B semapv:UnspecifiedMatching +OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:29442 semapv:UnspecifiedMatching +OMIM:608322 KIF21B skos:exactMatch hgnc.symbol:KIF21B semapv:UnspecifiedMatching OMIM:608322 KIF21B skos:exactMatch ncbigene:23046 semapv:UnspecifiedMatching -OMIM:608324 SMIM3 skos:exactMatch hgnc:SMIM3 semapv:UnspecifiedMatching +OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:30248 semapv:UnspecifiedMatching +OMIM:608324 SMIM3 skos:exactMatch hgnc.symbol:SMIM3 semapv:UnspecifiedMatching OMIM:608324 SMIM3 skos:exactMatch ncbigene:85027 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch UMLS:C1538635 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch UMLS:C5231537 semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch UMLS:C5231538 semapv:UnspecifiedMatching -OMIM:608325 PHF21A skos:exactMatch hgnc:PHF21A semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:24156 semapv:UnspecifiedMatching +OMIM:608325 PHF21A skos:exactMatch hgnc.symbol:PHF21A semapv:UnspecifiedMatching OMIM:608325 PHF21A skos:exactMatch ncbigene:51317 semapv:UnspecifiedMatching -OMIM:608326 STOML1 skos:exactMatch hgnc:STOML1 semapv:UnspecifiedMatching +OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:14560 semapv:UnspecifiedMatching +OMIM:608326 STOML1 skos:exactMatch hgnc.symbol:STOML1 semapv:UnspecifiedMatching OMIM:608326 STOML1 skos:exactMatch ncbigene:9399 semapv:UnspecifiedMatching -OMIM:608327 STOML3 skos:exactMatch hgnc:STOML3 semapv:UnspecifiedMatching +OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:19420 semapv:UnspecifiedMatching +OMIM:608327 STOML3 skos:exactMatch hgnc.symbol:STOML3 semapv:UnspecifiedMatching OMIM:608327 STOML3 skos:exactMatch ncbigene:161003 semapv:UnspecifiedMatching -OMIM:608329 MYRF skos:exactMatch hgnc:MYRF semapv:UnspecifiedMatching +OMIM:608329 MYRF skos:exactMatch hgnc.symbol:1181 semapv:UnspecifiedMatching +OMIM:608329 MYRF skos:exactMatch hgnc.symbol:MYRF semapv:UnspecifiedMatching OMIM:608329 MYRF skos:exactMatch ncbigene:745 semapv:UnspecifiedMatching -OMIM:608330 PRPF19 skos:exactMatch hgnc:PRPF19 semapv:UnspecifiedMatching +OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:17896 semapv:UnspecifiedMatching +OMIM:608330 PRPF19 skos:exactMatch hgnc.symbol:PRPF19 semapv:UnspecifiedMatching OMIM:608330 PRPF19 skos:exactMatch ncbigene:27339 semapv:UnspecifiedMatching -OMIM:608331 SLC36A2 skos:exactMatch hgnc:SLC36A2 semapv:UnspecifiedMatching +OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:18762 semapv:UnspecifiedMatching +OMIM:608331 SLC36A2 skos:exactMatch hgnc.symbol:SLC36A2 semapv:UnspecifiedMatching OMIM:608331 SLC36A2 skos:exactMatch ncbigene:153201 semapv:UnspecifiedMatching -OMIM:608332 SLC36A3 skos:exactMatch hgnc:SLC36A3 semapv:UnspecifiedMatching +OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:19659 semapv:UnspecifiedMatching +OMIM:608332 SLC36A3 skos:exactMatch hgnc.symbol:SLC36A3 semapv:UnspecifiedMatching OMIM:608332 SLC36A3 skos:exactMatch ncbigene:285641 semapv:UnspecifiedMatching -OMIM:608333 DOK4 skos:exactMatch hgnc:DOK4 semapv:UnspecifiedMatching +OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:19868 semapv:UnspecifiedMatching +OMIM:608333 DOK4 skos:exactMatch hgnc.symbol:DOK4 semapv:UnspecifiedMatching OMIM:608333 DOK4 skos:exactMatch ncbigene:55715 semapv:UnspecifiedMatching -OMIM:608334 DOK5 skos:exactMatch hgnc:DOK5 semapv:UnspecifiedMatching +OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:16173 semapv:UnspecifiedMatching +OMIM:608334 DOK5 skos:exactMatch hgnc.symbol:DOK5 semapv:UnspecifiedMatching OMIM:608334 DOK5 skos:exactMatch ncbigene:55816 semapv:UnspecifiedMatching -OMIM:608335 PLEKHO1 skos:exactMatch hgnc:PLEKHO1 semapv:UnspecifiedMatching +OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:24310 semapv:UnspecifiedMatching +OMIM:608335 PLEKHO1 skos:exactMatch hgnc.symbol:PLEKHO1 semapv:UnspecifiedMatching OMIM:608335 PLEKHO1 skos:exactMatch ncbigene:51177 semapv:UnspecifiedMatching OMIM:608336 TPRA1 skos:exactMatch UMLS:C1539611 semapv:UnspecifiedMatching -OMIM:608336 TPRA1 skos:exactMatch hgnc:TPRA1 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:30413 semapv:UnspecifiedMatching +OMIM:608336 TPRA1 skos:exactMatch hgnc.symbol:TPRA1 semapv:UnspecifiedMatching OMIM:608336 TPRA1 skos:exactMatch ncbigene:131601 semapv:UnspecifiedMatching -OMIM:608337 OTUB1 skos:exactMatch hgnc:OTUB1 semapv:UnspecifiedMatching +OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:23077 semapv:UnspecifiedMatching +OMIM:608337 OTUB1 skos:exactMatch hgnc.symbol:OTUB1 semapv:UnspecifiedMatching OMIM:608337 OTUB1 skos:exactMatch ncbigene:55611 semapv:UnspecifiedMatching -OMIM:608338 OTUB2 skos:exactMatch hgnc:OTUB2 semapv:UnspecifiedMatching +OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:20351 semapv:UnspecifiedMatching +OMIM:608338 OTUB2 skos:exactMatch hgnc.symbol:OTUB2 semapv:UnspecifiedMatching OMIM:608338 OTUB2 skos:exactMatch ncbigene:78990 semapv:UnspecifiedMatching -OMIM:608339 STXBP3 skos:exactMatch hgnc:STXBP3 semapv:UnspecifiedMatching +OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:11446 semapv:UnspecifiedMatching +OMIM:608339 STXBP3 skos:exactMatch hgnc.symbol:STXBP3 semapv:UnspecifiedMatching OMIM:608339 STXBP3 skos:exactMatch ncbigene:6814 semapv:UnspecifiedMatching -OMIM:608341 CYB5R1 skos:exactMatch hgnc:CYB5R1 semapv:UnspecifiedMatching +OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:13397 semapv:UnspecifiedMatching +OMIM:608341 CYB5R1 skos:exactMatch hgnc.symbol:CYB5R1 semapv:UnspecifiedMatching OMIM:608341 CYB5R1 skos:exactMatch ncbigene:51706 semapv:UnspecifiedMatching -OMIM:608342 CYB5R2 skos:exactMatch hgnc:CYB5R2 semapv:UnspecifiedMatching +OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:24376 semapv:UnspecifiedMatching +OMIM:608342 CYB5R2 skos:exactMatch hgnc.symbol:CYB5R2 semapv:UnspecifiedMatching OMIM:608342 CYB5R2 skos:exactMatch ncbigene:51700 semapv:UnspecifiedMatching -OMIM:608343 CYB5R4 skos:exactMatch hgnc:CYB5R4 semapv:UnspecifiedMatching +OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:20147 semapv:UnspecifiedMatching +OMIM:608343 CYB5R4 skos:exactMatch hgnc.symbol:CYB5R4 semapv:UnspecifiedMatching OMIM:608343 CYB5R4 skos:exactMatch ncbigene:51167 semapv:UnspecifiedMatching OMIM:608344 HSPB9 skos:exactMatch UMLS:C1537389 semapv:UnspecifiedMatching -OMIM:608344 HSPB9 skos:exactMatch hgnc:HSPB9 semapv:UnspecifiedMatching +OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:30589 semapv:UnspecifiedMatching +OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:HSPB9 semapv:UnspecifiedMatching OMIM:608344 HSPB9 skos:exactMatch ncbigene:94086 semapv:UnspecifiedMatching -OMIM:608347 DCXR skos:exactMatch hgnc:DCXR semapv:UnspecifiedMatching +OMIM:608347 DCXR skos:exactMatch hgnc.symbol:18985 semapv:UnspecifiedMatching +OMIM:608347 DCXR skos:exactMatch hgnc.symbol:DCXR semapv:UnspecifiedMatching OMIM:608347 DCXR skos:exactMatch ncbigene:51181 semapv:UnspecifiedMatching -OMIM:608348 BCKDHA skos:exactMatch hgnc:BCKDHA semapv:UnspecifiedMatching +OMIM:608348 BCKDHA skos:exactMatch hgnc.symbol:986 semapv:UnspecifiedMatching +OMIM:608348 BCKDHA skos:exactMatch hgnc.symbol:BCKDHA semapv:UnspecifiedMatching OMIM:608348 BCKDHA skos:exactMatch ncbigene:593 semapv:UnspecifiedMatching -OMIM:608349 HSH2D skos:exactMatch hgnc:HSH2D semapv:UnspecifiedMatching +OMIM:608349 HSH2D skos:exactMatch hgnc.symbol:24920 semapv:UnspecifiedMatching +OMIM:608349 HSH2D skos:exactMatch hgnc.symbol:HSH2D semapv:UnspecifiedMatching OMIM:608349 HSH2D skos:exactMatch ncbigene:84941 semapv:UnspecifiedMatching -OMIM:608350 EMCN skos:exactMatch hgnc:EMCN semapv:UnspecifiedMatching +OMIM:608350 EMCN skos:exactMatch hgnc.symbol:16041 semapv:UnspecifiedMatching +OMIM:608350 EMCN skos:exactMatch hgnc.symbol:EMCN semapv:UnspecifiedMatching OMIM:608350 EMCN skos:exactMatch ncbigene:51705 semapv:UnspecifiedMatching -OMIM:608351 IGSF11 skos:exactMatch hgnc:IGSF11 semapv:UnspecifiedMatching +OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:16669 semapv:UnspecifiedMatching +OMIM:608351 IGSF11 skos:exactMatch hgnc.symbol:IGSF11 semapv:UnspecifiedMatching OMIM:608351 IGSF11 skos:exactMatch ncbigene:152404 semapv:UnspecifiedMatching -OMIM:608352 ACRBP skos:exactMatch hgnc:ACRBP semapv:UnspecifiedMatching +OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:17195 semapv:UnspecifiedMatching +OMIM:608352 ACRBP skos:exactMatch hgnc.symbol:ACRBP semapv:UnspecifiedMatching OMIM:608352 ACRBP skos:exactMatch ncbigene:84519 semapv:UnspecifiedMatching -OMIM:608353 AZIN2 skos:exactMatch hgnc:AZIN2 semapv:UnspecifiedMatching +OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:29957 semapv:UnspecifiedMatching +OMIM:608353 AZIN2 skos:exactMatch hgnc.symbol:AZIN2 semapv:UnspecifiedMatching OMIM:608353 AZIN2 skos:exactMatch ncbigene:113451 semapv:UnspecifiedMatching -OMIM:608356 ODF3 skos:exactMatch hgnc:CIMAP1A semapv:UnspecifiedMatching +OMIM:608356 ODF3 skos:exactMatch hgnc.symbol:CIMAP1A semapv:UnspecifiedMatching OMIM:608356 ODF3 skos:exactMatch ncbigene:113746 semapv:UnspecifiedMatching -OMIM:608357 SULT1C4 skos:exactMatch hgnc:SULT1C4 semapv:UnspecifiedMatching +OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:11457 semapv:UnspecifiedMatching +OMIM:608357 SULT1C4 skos:exactMatch hgnc.symbol:SULT1C4 semapv:UnspecifiedMatching OMIM:608357 SULT1C4 skos:exactMatch ncbigene:27233 semapv:UnspecifiedMatching -OMIM:608359 SULT4A1 skos:exactMatch hgnc:SULT4A1 semapv:UnspecifiedMatching +OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:14903 semapv:UnspecifiedMatching +OMIM:608359 SULT4A1 skos:exactMatch hgnc.symbol:SULT4A1 semapv:UnspecifiedMatching OMIM:608359 SULT4A1 skos:exactMatch ncbigene:25830 semapv:UnspecifiedMatching OMIM:608360 LRRC8A skos:exactMatch UMLS:C1825876 semapv:UnspecifiedMatching OMIM:608360 LRRC8A skos:exactMatch UMLS:C4225518 semapv:UnspecifiedMatching -OMIM:608360 LRRC8A skos:exactMatch hgnc:LRRC8A semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:19027 semapv:UnspecifiedMatching +OMIM:608360 LRRC8A skos:exactMatch hgnc.symbol:LRRC8A semapv:UnspecifiedMatching OMIM:608360 LRRC8A skos:exactMatch ncbigene:56262 semapv:UnspecifiedMatching -OMIM:608362 STMN3 skos:exactMatch hgnc:STMN3 semapv:UnspecifiedMatching +OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:15926 semapv:UnspecifiedMatching +OMIM:608362 STMN3 skos:exactMatch hgnc.symbol:STMN3 semapv:UnspecifiedMatching OMIM:608362 STMN3 skos:exactMatch ncbigene:50861 semapv:UnspecifiedMatching -OMIM:608364 LIMA1 skos:exactMatch hgnc:LIMA1 semapv:UnspecifiedMatching +OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:24636 semapv:UnspecifiedMatching +OMIM:608364 LIMA1 skos:exactMatch hgnc.symbol:LIMA1 semapv:UnspecifiedMatching OMIM:608364 LIMA1 skos:exactMatch ncbigene:51474 semapv:UnspecifiedMatching -OMIM:608365 TCP10L skos:exactMatch hgnc:TCP10L semapv:UnspecifiedMatching +OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:11657 semapv:UnspecifiedMatching +OMIM:608365 TCP10L skos:exactMatch hgnc.symbol:TCP10L semapv:UnspecifiedMatching OMIM:608365 TCP10L skos:exactMatch ncbigene:140290 semapv:UnspecifiedMatching -OMIM:608366 CEMIP skos:exactMatch hgnc:CEMIP semapv:UnspecifiedMatching +OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:29213 semapv:UnspecifiedMatching +OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:CEMIP semapv:UnspecifiedMatching OMIM:608366 CEMIP skos:exactMatch ncbigene:57214 semapv:UnspecifiedMatching -OMIM:608368 RAD9B skos:exactMatch hgnc:RAD9B semapv:UnspecifiedMatching +OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:21700 semapv:UnspecifiedMatching +OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching -OMIM:608369 GALNT13 skos:exactMatch hgnc:GALNT13 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:23242 semapv:UnspecifiedMatching +OMIM:608369 GALNT13 skos:exactMatch hgnc.symbol:GALNT13 semapv:UnspecifiedMatching OMIM:608369 GALNT13 skos:exactMatch ncbigene:114805 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch UMLS:C1822652 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching -OMIM:608370 SCD5 skos:exactMatch hgnc:SCD5 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:21088 semapv:UnspecifiedMatching +OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:SCD5 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch ncbigene:79966 semapv:UnspecifiedMatching -OMIM:608373 SYNGR4 skos:exactMatch hgnc:SYNGR4 semapv:UnspecifiedMatching +OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:11502 semapv:UnspecifiedMatching +OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:SYNGR4 semapv:UnspecifiedMatching OMIM:608373 SYNGR4 skos:exactMatch ncbigene:23546 semapv:UnspecifiedMatching -OMIM:608374 HJV skos:exactMatch hgnc:HJV semapv:UnspecifiedMatching +OMIM:608374 HJV skos:exactMatch hgnc.symbol:4887 semapv:UnspecifiedMatching +OMIM:608374 HJV skos:exactMatch hgnc.symbol:HJV semapv:UnspecifiedMatching OMIM:608374 HJV skos:exactMatch ncbigene:148738 semapv:UnspecifiedMatching -OMIM:608375 DNAJC6 skos:exactMatch hgnc:DNAJC6 semapv:UnspecifiedMatching +OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:15469 semapv:UnspecifiedMatching +OMIM:608375 DNAJC6 skos:exactMatch hgnc.symbol:DNAJC6 semapv:UnspecifiedMatching OMIM:608375 DNAJC6 skos:exactMatch ncbigene:9829 semapv:UnspecifiedMatching OMIM:608376 DNAJB12 skos:exactMatch UMLS:C1423030 semapv:UnspecifiedMatching -OMIM:608376 DNAJB12 skos:exactMatch hgnc:DNAJB12 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:14891 semapv:UnspecifiedMatching +OMIM:608376 DNAJB12 skos:exactMatch hgnc.symbol:DNAJB12 semapv:UnspecifiedMatching OMIM:608376 DNAJB12 skos:exactMatch ncbigene:54788 semapv:UnspecifiedMatching -OMIM:608377 ARFGAP1 skos:exactMatch hgnc:ARFGAP1 semapv:UnspecifiedMatching +OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:15852 semapv:UnspecifiedMatching +OMIM:608377 ARFGAP1 skos:exactMatch hgnc.symbol:ARFGAP1 semapv:UnspecifiedMatching OMIM:608377 ARFGAP1 skos:exactMatch ncbigene:55738 semapv:UnspecifiedMatching OMIM:608378 NEMF skos:exactMatch UMLS:C1419896 semapv:UnspecifiedMatching OMIM:608378 NEMF skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching -OMIM:608378 NEMF skos:exactMatch hgnc:NEMF semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch hgnc.symbol:10663 semapv:UnspecifiedMatching +OMIM:608378 NEMF skos:exactMatch hgnc.symbol:NEMF semapv:UnspecifiedMatching OMIM:608378 NEMF skos:exactMatch ncbigene:9147 semapv:UnspecifiedMatching -OMIM:608379 CCRL2 skos:exactMatch hgnc:CCRL2 semapv:UnspecifiedMatching +OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:1612 semapv:UnspecifiedMatching +OMIM:608379 CCRL2 skos:exactMatch hgnc.symbol:CCRL2 semapv:UnspecifiedMatching OMIM:608379 CCRL2 skos:exactMatch ncbigene:9034 semapv:UnspecifiedMatching -OMIM:608381 CERKL skos:exactMatch hgnc:CERKL semapv:UnspecifiedMatching +OMIM:608381 CERKL skos:exactMatch hgnc.symbol:21699 semapv:UnspecifiedMatching +OMIM:608381 CERKL skos:exactMatch hgnc.symbol:CERKL semapv:UnspecifiedMatching OMIM:608381 CERKL skos:exactMatch ncbigene:375298 semapv:UnspecifiedMatching OMIM:608382 DNAJA3 skos:exactMatch UMLS:C1420733 semapv:UnspecifiedMatching OMIM:608382 DNAJA3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608382 DNAJA3 skos:exactMatch hgnc:DNAJA3 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:11808 semapv:UnspecifiedMatching +OMIM:608382 DNAJA3 skos:exactMatch hgnc.symbol:DNAJA3 semapv:UnspecifiedMatching OMIM:608382 DNAJA3 skos:exactMatch ncbigene:9093 semapv:UnspecifiedMatching -OMIM:608383 DPYSL5 skos:exactMatch hgnc:DPYSL5 semapv:UnspecifiedMatching +OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:20637 semapv:UnspecifiedMatching +OMIM:608383 DPYSL5 skos:exactMatch hgnc.symbol:DPYSL5 semapv:UnspecifiedMatching OMIM:608383 DPYSL5 skos:exactMatch ncbigene:56896 semapv:UnspecifiedMatching -OMIM:608384 GSDMC skos:exactMatch hgnc:GSDMC semapv:UnspecifiedMatching +OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:7151 semapv:UnspecifiedMatching +OMIM:608384 GSDMC skos:exactMatch hgnc.symbol:GSDMC semapv:UnspecifiedMatching OMIM:608384 GSDMC skos:exactMatch ncbigene:56169 semapv:UnspecifiedMatching -OMIM:608385 TNS4 skos:exactMatch hgnc:TNS4 semapv:UnspecifiedMatching +OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:24352 semapv:UnspecifiedMatching +OMIM:608385 TNS4 skos:exactMatch hgnc.symbol:TNS4 semapv:UnspecifiedMatching OMIM:608385 TNS4 skos:exactMatch ncbigene:84951 semapv:UnspecifiedMatching -OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc:PTH2 semapv:UnspecifiedMatching +OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:30828 semapv:UnspecifiedMatching +OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch hgnc.symbol:PTH2 semapv:UnspecifiedMatching OMIM:608386 tuberoinfundibular peptide of 39 amino acids skos:exactMatch ncbigene:113091 semapv:UnspecifiedMatching -OMIM:608387 ZNF213 skos:exactMatch hgnc:ZNF213 semapv:UnspecifiedMatching +OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:13005 semapv:UnspecifiedMatching +OMIM:608387 ZNF213 skos:exactMatch hgnc.symbol:ZNF213 semapv:UnspecifiedMatching OMIM:608387 ZNF213 skos:exactMatch ncbigene:7760 semapv:UnspecifiedMatching -OMIM:608388 ECSIT skos:exactMatch hgnc:ECSIT semapv:UnspecifiedMatching +OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:29548 semapv:UnspecifiedMatching +OMIM:608388 ECSIT skos:exactMatch hgnc.symbol:ECSIT semapv:UnspecifiedMatching OMIM:608388 ECSIT skos:exactMatch ncbigene:51295 semapv:UnspecifiedMatching +OMIM:608389 branchiootic syndrome 3 skos:exactMatch Orphanet:52429 semapv:UnspecifiedMatching OMIM:608389 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching -OMIM:608389 branchiootic syndrome 3 skos:exactMatch orphanet.ordo:52429 semapv:UnspecifiedMatching -OMIM:608396 SLC9A9 skos:exactMatch hgnc:SLC9A9 semapv:UnspecifiedMatching +OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:20653 semapv:UnspecifiedMatching +OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:SLC9A9 semapv:UnspecifiedMatching OMIM:608396 SLC9A9 skos:exactMatch ncbigene:285195 semapv:UnspecifiedMatching -OMIM:608397 CSMD1 skos:exactMatch hgnc:CSMD1 semapv:UnspecifiedMatching +OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:14026 semapv:UnspecifiedMatching +OMIM:608397 CSMD1 skos:exactMatch hgnc.symbol:CSMD1 semapv:UnspecifiedMatching OMIM:608397 CSMD1 skos:exactMatch ncbigene:64478 semapv:UnspecifiedMatching -OMIM:608398 CSMD2 skos:exactMatch hgnc:CSMD2 semapv:UnspecifiedMatching +OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:19290 semapv:UnspecifiedMatching +OMIM:608398 CSMD2 skos:exactMatch hgnc.symbol:CSMD2 semapv:UnspecifiedMatching OMIM:608398 CSMD2 skos:exactMatch ncbigene:114784 semapv:UnspecifiedMatching -OMIM:608399 CSMD3 skos:exactMatch hgnc:CSMD3 semapv:UnspecifiedMatching +OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:19291 semapv:UnspecifiedMatching +OMIM:608399 CSMD3 skos:exactMatch hgnc.symbol:CSMD3 semapv:UnspecifiedMatching OMIM:608399 CSMD3 skos:exactMatch ncbigene:114788 semapv:UnspecifiedMatching -OMIM:608400 USH2A skos:exactMatch hgnc:USH2A semapv:UnspecifiedMatching +OMIM:608400 USH2A skos:exactMatch hgnc.symbol:12601 semapv:UnspecifiedMatching +OMIM:608400 USH2A skos:exactMatch hgnc.symbol:USH2A semapv:UnspecifiedMatching OMIM:608400 USH2A skos:exactMatch ncbigene:7399 semapv:UnspecifiedMatching -OMIM:608401 MS4A4E skos:exactMatch hgnc:MS4A4E semapv:UnspecifiedMatching +OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:14284 semapv:UnspecifiedMatching +OMIM:608401 MS4A4E skos:exactMatch hgnc.symbol:MS4A4E semapv:UnspecifiedMatching OMIM:608401 MS4A4E skos:exactMatch ncbigene:643680 semapv:UnspecifiedMatching -OMIM:608402 MS4A6E skos:exactMatch hgnc:MS4A6E semapv:UnspecifiedMatching +OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:14285 semapv:UnspecifiedMatching +OMIM:608402 MS4A6E skos:exactMatch hgnc.symbol:MS4A6E semapv:UnspecifiedMatching OMIM:608402 MS4A6E skos:exactMatch ncbigene:245802 semapv:UnspecifiedMatching -OMIM:608403 MS4A10 skos:exactMatch hgnc:MS4A10 semapv:UnspecifiedMatching +OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:13368 semapv:UnspecifiedMatching +OMIM:608403 MS4A10 skos:exactMatch hgnc.symbol:MS4A10 semapv:UnspecifiedMatching OMIM:608403 MS4A10 skos:exactMatch ncbigene:341116 semapv:UnspecifiedMatching -OMIM:608405 ACCS skos:exactMatch hgnc:ACCS semapv:UnspecifiedMatching +OMIM:608405 ACCS skos:exactMatch hgnc.symbol:23989 semapv:UnspecifiedMatching +OMIM:608405 ACCS skos:exactMatch hgnc.symbol:ACCS semapv:UnspecifiedMatching OMIM:608405 ACCS skos:exactMatch ncbigene:84680 semapv:UnspecifiedMatching -OMIM:608407 DPYSL4 skos:exactMatch hgnc:DPYSL4 semapv:UnspecifiedMatching +OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:3016 semapv:UnspecifiedMatching +OMIM:608407 DPYSL4 skos:exactMatch hgnc.symbol:DPYSL4 semapv:UnspecifiedMatching OMIM:608407 DPYSL4 skos:exactMatch ncbigene:10570 semapv:UnspecifiedMatching -OMIM:608408 DPPA3 skos:exactMatch hgnc:DPPA3 semapv:UnspecifiedMatching +OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:19199 semapv:UnspecifiedMatching +OMIM:608408 DPPA3 skos:exactMatch hgnc.symbol:DPPA3 semapv:UnspecifiedMatching OMIM:608408 DPPA3 skos:exactMatch ncbigene:359787 semapv:UnspecifiedMatching -OMIM:608409 C15ORF48 skos:exactMatch hgnc:C15orf48 semapv:UnspecifiedMatching +OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:29898 semapv:UnspecifiedMatching +OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:C15orf48 semapv:UnspecifiedMatching OMIM:608409 C15ORF48 skos:exactMatch ncbigene:84419 semapv:UnspecifiedMatching -OMIM:608411 XPO6 skos:exactMatch hgnc:XPO6 semapv:UnspecifiedMatching +OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:19733 semapv:UnspecifiedMatching +OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:XPO6 semapv:UnspecifiedMatching OMIM:608411 XPO6 skos:exactMatch ncbigene:23214 semapv:UnspecifiedMatching -OMIM:608412 GPBP1 skos:exactMatch hgnc:GPBP1 semapv:UnspecifiedMatching +OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:29520 semapv:UnspecifiedMatching +OMIM:608412 GPBP1 skos:exactMatch hgnc.symbol:GPBP1 semapv:UnspecifiedMatching OMIM:608412 GPBP1 skos:exactMatch ncbigene:65056 semapv:UnspecifiedMatching -OMIM:608413 UBR5 skos:exactMatch hgnc:UBR5 semapv:UnspecifiedMatching +OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:16806 semapv:UnspecifiedMatching +OMIM:608413 UBR5 skos:exactMatch hgnc.symbol:UBR5 semapv:UnspecifiedMatching OMIM:608413 UBR5 skos:exactMatch ncbigene:51366 semapv:UnspecifiedMatching -OMIM:608414 PLCE1 skos:exactMatch hgnc:PLCE1 semapv:UnspecifiedMatching +OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:17175 semapv:UnspecifiedMatching +OMIM:608414 PLCE1 skos:exactMatch hgnc.symbol:PLCE1 semapv:UnspecifiedMatching OMIM:608414 PLCE1 skos:exactMatch ncbigene:51196 semapv:UnspecifiedMatching -OMIM:608416 MMP21 skos:exactMatch hgnc:MMP21 semapv:UnspecifiedMatching +OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:14357 semapv:UnspecifiedMatching +OMIM:608416 MMP21 skos:exactMatch hgnc.symbol:MMP21 semapv:UnspecifiedMatching OMIM:608416 MMP21 skos:exactMatch ncbigene:118856 semapv:UnspecifiedMatching -OMIM:608417 MMP28 skos:exactMatch hgnc:MMP28 semapv:UnspecifiedMatching +OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:14366 semapv:UnspecifiedMatching +OMIM:608417 MMP28 skos:exactMatch hgnc.symbol:MMP28 semapv:UnspecifiedMatching OMIM:608417 MMP28 skos:exactMatch ncbigene:79148 semapv:UnspecifiedMatching -OMIM:608418 SEPT8 skos:exactMatch hgnc:SEPTIN8 semapv:UnspecifiedMatching +OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:16511 semapv:UnspecifiedMatching +OMIM:608418 SEPT8 skos:exactMatch hgnc.symbol:SEPTIN8 semapv:UnspecifiedMatching OMIM:608418 SEPT8 skos:exactMatch ncbigene:23176 semapv:UnspecifiedMatching -OMIM:608419 MCEE skos:exactMatch hgnc:MCEE semapv:UnspecifiedMatching +OMIM:608419 MCEE skos:exactMatch hgnc.symbol:16732 semapv:UnspecifiedMatching +OMIM:608419 MCEE skos:exactMatch hgnc.symbol:MCEE semapv:UnspecifiedMatching OMIM:608419 MCEE skos:exactMatch ncbigene:84693 semapv:UnspecifiedMatching -OMIM:608420 PANX1 skos:exactMatch hgnc:PANX1 semapv:UnspecifiedMatching +OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:8599 semapv:UnspecifiedMatching +OMIM:608420 PANX1 skos:exactMatch hgnc.symbol:PANX1 semapv:UnspecifiedMatching OMIM:608420 PANX1 skos:exactMatch ncbigene:24145 semapv:UnspecifiedMatching -OMIM:608421 PANX2 skos:exactMatch hgnc:PANX2 semapv:UnspecifiedMatching +OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:8600 semapv:UnspecifiedMatching +OMIM:608421 PANX2 skos:exactMatch hgnc.symbol:PANX2 semapv:UnspecifiedMatching OMIM:608421 PANX2 skos:exactMatch ncbigene:56666 semapv:UnspecifiedMatching -OMIM:608422 PANX3 skos:exactMatch hgnc:PANX3 semapv:UnspecifiedMatching +OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:20573 semapv:UnspecifiedMatching +OMIM:608422 PANX3 skos:exactMatch hgnc.symbol:PANX3 semapv:UnspecifiedMatching OMIM:608422 PANX3 skos:exactMatch ncbigene:116337 semapv:UnspecifiedMatching +OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch Orphanet:55595 semapv:UnspecifiedMatching OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch UMLS:C1842062 semapv:UnspecifiedMatching -OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 skos:exactMatch orphanet.ordo:55595 semapv:UnspecifiedMatching -OMIM:608424 MUC17 skos:exactMatch hgnc:MUC17 semapv:UnspecifiedMatching +OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:16800 semapv:UnspecifiedMatching +OMIM:608424 MUC17 skos:exactMatch hgnc.symbol:MUC17 semapv:UnspecifiedMatching OMIM:608424 MUC17 skos:exactMatch ncbigene:140453 semapv:UnspecifiedMatching -OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc:FN3K semapv:UnspecifiedMatching +OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:24822 semapv:UnspecifiedMatching +OMIM:608425 fructosamine 3-kinase skos:exactMatch hgnc.symbol:FN3K semapv:UnspecifiedMatching OMIM:608425 fructosamine 3-kinase skos:exactMatch ncbigene:64122 semapv:UnspecifiedMatching -OMIM:608426 MKRN2 skos:exactMatch hgnc:MKRN2 semapv:UnspecifiedMatching +OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:7113 semapv:UnspecifiedMatching +OMIM:608426 MKRN2 skos:exactMatch hgnc.symbol:MKRN2 semapv:UnspecifiedMatching OMIM:608426 MKRN2 skos:exactMatch ncbigene:23609 semapv:UnspecifiedMatching -OMIM:608427 PACRG skos:exactMatch hgnc:PACRG semapv:UnspecifiedMatching +OMIM:608427 PACRG skos:exactMatch hgnc.symbol:19152 semapv:UnspecifiedMatching +OMIM:608427 PACRG skos:exactMatch hgnc.symbol:PACRG semapv:UnspecifiedMatching OMIM:608427 PACRG skos:exactMatch ncbigene:135138 semapv:UnspecifiedMatching -OMIM:608428 CYP26C1 skos:exactMatch hgnc:CYP26C1 semapv:UnspecifiedMatching +OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:20577 semapv:UnspecifiedMatching +OMIM:608428 CYP26C1 skos:exactMatch hgnc.symbol:CYP26C1 semapv:UnspecifiedMatching OMIM:608428 CYP26C1 skos:exactMatch ncbigene:340665 semapv:UnspecifiedMatching -OMIM:608429 CHST14 skos:exactMatch hgnc:CHST14 semapv:UnspecifiedMatching +OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:24464 semapv:UnspecifiedMatching +OMIM:608429 CHST14 skos:exactMatch hgnc.symbol:CHST14 semapv:UnspecifiedMatching OMIM:608429 CHST14 skos:exactMatch ncbigene:113189 semapv:UnspecifiedMatching -OMIM:608430 TRPC4AP skos:exactMatch hgnc:TRPC4AP semapv:UnspecifiedMatching +OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:16181 semapv:UnspecifiedMatching +OMIM:608430 TRPC4AP skos:exactMatch hgnc.symbol:TRPC4AP semapv:UnspecifiedMatching OMIM:608430 TRPC4AP skos:exactMatch ncbigene:26133 semapv:UnspecifiedMatching -OMIM:608431 G3BP1 skos:exactMatch hgnc:G3BP1 semapv:UnspecifiedMatching +OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:30292 semapv:UnspecifiedMatching +OMIM:608431 G3BP1 skos:exactMatch hgnc.symbol:G3BP1 semapv:UnspecifiedMatching OMIM:608431 G3BP1 skos:exactMatch ncbigene:10146 semapv:UnspecifiedMatching -OMIM:608433 ZBTB18 skos:exactMatch hgnc:ZBTB18 semapv:UnspecifiedMatching +OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:13030 semapv:UnspecifiedMatching +OMIM:608433 ZBTB18 skos:exactMatch hgnc.symbol:ZBTB18 semapv:UnspecifiedMatching OMIM:608433 ZBTB18 skos:exactMatch ncbigene:10472 semapv:UnspecifiedMatching OMIM:608434 GIT1 skos:exactMatch UMLS:C1333676 semapv:UnspecifiedMatching -OMIM:608434 GIT1 skos:exactMatch hgnc:GIT1 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:4272 semapv:UnspecifiedMatching +OMIM:608434 GIT1 skos:exactMatch hgnc.symbol:GIT1 semapv:UnspecifiedMatching OMIM:608434 GIT1 skos:exactMatch ncbigene:28964 semapv:UnspecifiedMatching -OMIM:608435 MRAS skos:exactMatch hgnc:MRAS semapv:UnspecifiedMatching +OMIM:608435 MRAS skos:exactMatch hgnc.symbol:7227 semapv:UnspecifiedMatching +OMIM:608435 MRAS skos:exactMatch hgnc.symbol:MRAS semapv:UnspecifiedMatching OMIM:608435 MRAS skos:exactMatch ncbigene:22808 semapv:UnspecifiedMatching -OMIM:608436 SULT1B1 skos:exactMatch hgnc:SULT1B1 semapv:UnspecifiedMatching +OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:17845 semapv:UnspecifiedMatching +OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:SULT1B1 semapv:UnspecifiedMatching OMIM:608436 SULT1B1 skos:exactMatch ncbigene:27284 semapv:UnspecifiedMatching -OMIM:608438 TLK1 skos:exactMatch hgnc:TLK1 semapv:UnspecifiedMatching +OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:11841 semapv:UnspecifiedMatching +OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:TLK1 semapv:UnspecifiedMatching OMIM:608438 TLK1 skos:exactMatch ncbigene:9874 semapv:UnspecifiedMatching -OMIM:608439 TLK2 skos:exactMatch hgnc:TLK2 semapv:UnspecifiedMatching +OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:11842 semapv:UnspecifiedMatching +OMIM:608439 TLK2 skos:exactMatch hgnc.symbol:TLK2 semapv:UnspecifiedMatching OMIM:608439 TLK2 skos:exactMatch ncbigene:11011 semapv:UnspecifiedMatching -OMIM:608440 LACTB skos:exactMatch hgnc:LACTB semapv:UnspecifiedMatching +OMIM:608440 LACTB skos:exactMatch hgnc.symbol:16468 semapv:UnspecifiedMatching +OMIM:608440 LACTB skos:exactMatch hgnc.symbol:LACTB semapv:UnspecifiedMatching OMIM:608440 LACTB skos:exactMatch ncbigene:114294 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch UMLS:C1424736 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching @@ -25384,182 +35199,260 @@ OMIM:608441 SYNE1 skos:exactMatch UMLS:C2751807 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching -OMIM:608441 SYNE1 skos:exactMatch hgnc:SYNE1 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:17089 semapv:UnspecifiedMatching +OMIM:608441 SYNE1 skos:exactMatch hgnc.symbol:SYNE1 semapv:UnspecifiedMatching OMIM:608441 SYNE1 skos:exactMatch ncbigene:23345 semapv:UnspecifiedMatching OMIM:608442 SYNE2 skos:exactMatch UMLS:C1424731 semapv:UnspecifiedMatching OMIM:608442 SYNE2 skos:exactMatch UMLS:C3489792 semapv:UnspecifiedMatching -OMIM:608442 SYNE2 skos:exactMatch hgnc:SYNE2 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:17084 semapv:UnspecifiedMatching +OMIM:608442 SYNE2 skos:exactMatch hgnc.symbol:SYNE2 semapv:UnspecifiedMatching OMIM:608442 SYNE2 skos:exactMatch ncbigene:23224 semapv:UnspecifiedMatching -OMIM:608444 KMT2E skos:exactMatch hgnc:KMT2E semapv:UnspecifiedMatching +OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:18541 semapv:UnspecifiedMatching +OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:KMT2E semapv:UnspecifiedMatching OMIM:608444 KMT2E skos:exactMatch ncbigene:55904 semapv:UnspecifiedMatching -OMIM:608449 PTBP2 skos:exactMatch hgnc:PTBP2 semapv:UnspecifiedMatching +OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:17662 semapv:UnspecifiedMatching +OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:PTBP2 semapv:UnspecifiedMatching OMIM:608449 PTBP2 skos:exactMatch ncbigene:58155 semapv:UnspecifiedMatching -OMIM:608450 BLACE skos:exactMatch hgnc:BLACE semapv:UnspecifiedMatching +OMIM:608450 BLACE skos:exactMatch hgnc.symbol:20484 semapv:UnspecifiedMatching +OMIM:608450 BLACE skos:exactMatch hgnc.symbol:BLACE semapv:UnspecifiedMatching OMIM:608450 BLACE skos:exactMatch ncbigene:338436 semapv:UnspecifiedMatching -OMIM:608451 ETHE1 skos:exactMatch hgnc:ETHE1 semapv:UnspecifiedMatching +OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:23287 semapv:UnspecifiedMatching +OMIM:608451 ETHE1 skos:exactMatch hgnc.symbol:ETHE1 semapv:UnspecifiedMatching OMIM:608451 ETHE1 skos:exactMatch ncbigene:23474 semapv:UnspecifiedMatching -OMIM:608452 PDGFC skos:exactMatch hgnc:PDGFC semapv:UnspecifiedMatching +OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:8801 semapv:UnspecifiedMatching +OMIM:608452 PDGFC skos:exactMatch hgnc.symbol:PDGFC semapv:UnspecifiedMatching OMIM:608452 PDGFC skos:exactMatch ncbigene:56034 semapv:UnspecifiedMatching -OMIM:608453 CBLC skos:exactMatch hgnc:CBLC semapv:UnspecifiedMatching +OMIM:608453 CBLC skos:exactMatch hgnc.symbol:15961 semapv:UnspecifiedMatching +OMIM:608453 CBLC skos:exactMatch hgnc.symbol:CBLC semapv:UnspecifiedMatching OMIM:608453 CBLC skos:exactMatch ncbigene:23624 semapv:UnspecifiedMatching -OMIM:608455 PYGM skos:exactMatch hgnc:PYGM semapv:UnspecifiedMatching +OMIM:608455 PYGM skos:exactMatch hgnc.symbol:9726 semapv:UnspecifiedMatching +OMIM:608455 PYGM skos:exactMatch hgnc.symbol:PYGM semapv:UnspecifiedMatching OMIM:608455 PYGM skos:exactMatch ncbigene:5837 semapv:UnspecifiedMatching -OMIM:608457 CBX7 skos:exactMatch hgnc:CBX7 semapv:UnspecifiedMatching +OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:1557 semapv:UnspecifiedMatching +OMIM:608457 CBX7 skos:exactMatch hgnc.symbol:CBX7 semapv:UnspecifiedMatching OMIM:608457 CBX7 skos:exactMatch ncbigene:23492 semapv:UnspecifiedMatching -OMIM:608458 NCDN skos:exactMatch hgnc:NCDN semapv:UnspecifiedMatching +OMIM:608458 NCDN skos:exactMatch hgnc.symbol:17597 semapv:UnspecifiedMatching +OMIM:608458 NCDN skos:exactMatch hgnc.symbol:NCDN semapv:UnspecifiedMatching OMIM:608458 NCDN skos:exactMatch ncbigene:23154 semapv:UnspecifiedMatching -OMIM:608459 CDKL3 skos:exactMatch hgnc:CDKL3 semapv:UnspecifiedMatching +OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:15483 semapv:UnspecifiedMatching +OMIM:608459 CDKL3 skos:exactMatch hgnc.symbol:CDKL3 semapv:UnspecifiedMatching OMIM:608459 CDKL3 skos:exactMatch ncbigene:51265 semapv:UnspecifiedMatching -OMIM:608460 ZFP276 skos:exactMatch hgnc:ZNF276 semapv:UnspecifiedMatching +OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:23330 semapv:UnspecifiedMatching +OMIM:608460 ZFP276 skos:exactMatch hgnc.symbol:ZNF276 semapv:UnspecifiedMatching OMIM:608460 ZFP276 skos:exactMatch ncbigene:92822 semapv:UnspecifiedMatching -OMIM:608461 COL27A1 skos:exactMatch hgnc:COL27A1 semapv:UnspecifiedMatching +OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:22986 semapv:UnspecifiedMatching +OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:COL27A1 semapv:UnspecifiedMatching OMIM:608461 COL27A1 skos:exactMatch ncbigene:85301 semapv:UnspecifiedMatching -OMIM:608463 AATF skos:exactMatch hgnc:AATF semapv:UnspecifiedMatching +OMIM:608463 AATF skos:exactMatch hgnc.symbol:19235 semapv:UnspecifiedMatching +OMIM:608463 AATF skos:exactMatch hgnc.symbol:AATF semapv:UnspecifiedMatching OMIM:608463 AATF skos:exactMatch ncbigene:26574 semapv:UnspecifiedMatching -OMIM:608464 AGGF1 skos:exactMatch hgnc:AGGF1 semapv:UnspecifiedMatching +OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:24684 semapv:UnspecifiedMatching +OMIM:608464 AGGF1 skos:exactMatch hgnc.symbol:AGGF1 semapv:UnspecifiedMatching OMIM:608464 AGGF1 skos:exactMatch ncbigene:55109 semapv:UnspecifiedMatching -OMIM:608465 SETX skos:exactMatch hgnc:SETX semapv:UnspecifiedMatching +OMIM:608465 SETX skos:exactMatch hgnc.symbol:445 semapv:UnspecifiedMatching +OMIM:608465 SETX skos:exactMatch hgnc.symbol:SETX semapv:UnspecifiedMatching OMIM:608465 SETX skos:exactMatch ncbigene:23064 semapv:UnspecifiedMatching -OMIM:608466 AHSA1 skos:exactMatch hgnc:AHSA1 semapv:UnspecifiedMatching +OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:1189 semapv:UnspecifiedMatching +OMIM:608466 AHSA1 skos:exactMatch hgnc.symbol:AHSA1 semapv:UnspecifiedMatching OMIM:608466 AHSA1 skos:exactMatch ncbigene:10598 semapv:UnspecifiedMatching -OMIM:608467 STON2 skos:exactMatch hgnc:STON2 semapv:UnspecifiedMatching +OMIM:608467 STON2 skos:exactMatch hgnc.symbol:30652 semapv:UnspecifiedMatching +OMIM:608467 STON2 skos:exactMatch hgnc.symbol:STON2 semapv:UnspecifiedMatching OMIM:608467 STON2 skos:exactMatch ncbigene:85439 semapv:UnspecifiedMatching -OMIM:608468 CCRN4L skos:exactMatch hgnc:NOCT semapv:UnspecifiedMatching +OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:14254 semapv:UnspecifiedMatching +OMIM:608468 CCRN4L skos:exactMatch hgnc.symbol:NOCT semapv:UnspecifiedMatching OMIM:608468 CCRN4L skos:exactMatch ncbigene:25819 semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch UMLS:C1413957 semapv:UnspecifiedMatching -OMIM:608469 DDX17 skos:exactMatch hgnc:DDX17 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:2740 semapv:UnspecifiedMatching +OMIM:608469 DDX17 skos:exactMatch hgnc.symbol:DDX17 semapv:UnspecifiedMatching OMIM:608469 DDX17 skos:exactMatch ncbigene:10521 semapv:UnspecifiedMatching +OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch Orphanet:98964 semapv:UnspecifiedMatching OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch UMLS:C1837974 semapv:UnspecifiedMatching -OMIM:608471 corneal dystrophy, lattice iia 3a skos:exactMatch orphanet.ordo:98964 semapv:UnspecifiedMatching -OMIM:608472 ST6GAL2 skos:exactMatch hgnc:ST6GAL2 semapv:UnspecifiedMatching +OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:10861 semapv:UnspecifiedMatching +OMIM:608472 ST6GAL2 skos:exactMatch hgnc.symbol:ST6GAL2 semapv:UnspecifiedMatching OMIM:608472 ST6GAL2 skos:exactMatch ncbigene:84620 semapv:UnspecifiedMatching -OMIM:608473 ANAPC1 skos:exactMatch hgnc:ANAPC1 semapv:UnspecifiedMatching +OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:19988 semapv:UnspecifiedMatching +OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:ANAPC1 semapv:UnspecifiedMatching OMIM:608473 ANAPC1 skos:exactMatch ncbigene:64682 semapv:UnspecifiedMatching -OMIM:608475 HIBADH skos:exactMatch hgnc:HIBADH semapv:UnspecifiedMatching +OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:4907 semapv:UnspecifiedMatching +OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:HIBADH semapv:UnspecifiedMatching OMIM:608475 HIBADH skos:exactMatch ncbigene:11112 semapv:UnspecifiedMatching -OMIM:608476 TBKBP1 skos:exactMatch hgnc:TBKBP1 semapv:UnspecifiedMatching +OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:30140 semapv:UnspecifiedMatching +OMIM:608476 TBKBP1 skos:exactMatch hgnc.symbol:TBKBP1 semapv:UnspecifiedMatching OMIM:608476 TBKBP1 skos:exactMatch ncbigene:9755 semapv:UnspecifiedMatching -OMIM:608477 AKR7A3 skos:exactMatch hgnc:AKR7A3 semapv:UnspecifiedMatching +OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:390 semapv:UnspecifiedMatching +OMIM:608477 AKR7A3 skos:exactMatch hgnc.symbol:AKR7A3 semapv:UnspecifiedMatching OMIM:608477 AKR7A3 skos:exactMatch ncbigene:22977 semapv:UnspecifiedMatching -OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc:AKR7L semapv:UnspecifiedMatching +OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:24056 semapv:UnspecifiedMatching +OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch hgnc.symbol:AKR7L semapv:UnspecifiedMatching OMIM:608478 aldo-keto reductase family 7, member a4 skos:exactMatch ncbigene:246181 semapv:UnspecifiedMatching -OMIM:608479 SLC26A7 skos:exactMatch hgnc:SLC26A7 semapv:UnspecifiedMatching +OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:14467 semapv:UnspecifiedMatching +OMIM:608479 SLC26A7 skos:exactMatch hgnc.symbol:SLC26A7 semapv:UnspecifiedMatching OMIM:608479 SLC26A7 skos:exactMatch ncbigene:115111 semapv:UnspecifiedMatching -OMIM:608480 SLC26A8 skos:exactMatch hgnc:SLC26A8 semapv:UnspecifiedMatching +OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:14468 semapv:UnspecifiedMatching +OMIM:608480 SLC26A8 skos:exactMatch hgnc.symbol:SLC26A8 semapv:UnspecifiedMatching OMIM:608480 SLC26A8 skos:exactMatch ncbigene:116369 semapv:UnspecifiedMatching -OMIM:608481 SLC26A9 skos:exactMatch hgnc:SLC26A9 semapv:UnspecifiedMatching +OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:14469 semapv:UnspecifiedMatching +OMIM:608481 SLC26A9 skos:exactMatch hgnc.symbol:SLC26A9 semapv:UnspecifiedMatching OMIM:608481 SLC26A9 skos:exactMatch ncbigene:115019 semapv:UnspecifiedMatching -OMIM:608482 MMP25 skos:exactMatch hgnc:MMP25 semapv:UnspecifiedMatching +OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:14246 semapv:UnspecifiedMatching +OMIM:608482 MMP25 skos:exactMatch hgnc.symbol:MMP25 semapv:UnspecifiedMatching OMIM:608482 MMP25 skos:exactMatch ncbigene:64386 semapv:UnspecifiedMatching -OMIM:608483 AKTIP skos:exactMatch hgnc:AKTIP semapv:UnspecifiedMatching +OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:16710 semapv:UnspecifiedMatching +OMIM:608483 AKTIP skos:exactMatch hgnc.symbol:AKTIP semapv:UnspecifiedMatching OMIM:608483 AKTIP skos:exactMatch ncbigene:64400 semapv:UnspecifiedMatching -OMIM:608485 TRAM2 skos:exactMatch hgnc:TRAM2 semapv:UnspecifiedMatching +OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:16855 semapv:UnspecifiedMatching +OMIM:608485 TRAM2 skos:exactMatch hgnc.symbol:TRAM2 semapv:UnspecifiedMatching OMIM:608485 TRAM2 skos:exactMatch ncbigene:9697 semapv:UnspecifiedMatching -OMIM:608486 MTSS1 skos:exactMatch hgnc:MTSS1 semapv:UnspecifiedMatching +OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:20443 semapv:UnspecifiedMatching +OMIM:608486 MTSS1 skos:exactMatch hgnc.symbol:MTSS1 semapv:UnspecifiedMatching OMIM:608486 MTSS1 skos:exactMatch ncbigene:9788 semapv:UnspecifiedMatching -OMIM:608487 TRIM5 skos:exactMatch hgnc:TRIM5 semapv:UnspecifiedMatching +OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:16276 semapv:UnspecifiedMatching +OMIM:608487 TRIM5 skos:exactMatch hgnc.symbol:TRIM5 semapv:UnspecifiedMatching OMIM:608487 TRIM5 skos:exactMatch ncbigene:85363 semapv:UnspecifiedMatching -OMIM:608488 SMOC1 skos:exactMatch hgnc:SMOC1 semapv:UnspecifiedMatching +OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:20318 semapv:UnspecifiedMatching +OMIM:608488 SMOC1 skos:exactMatch hgnc.symbol:SMOC1 semapv:UnspecifiedMatching OMIM:608488 SMOC1 skos:exactMatch ncbigene:64093 semapv:UnspecifiedMatching -OMIM:608489 STAG3 skos:exactMatch hgnc:STAG3 semapv:UnspecifiedMatching +OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:11356 semapv:UnspecifiedMatching +OMIM:608489 STAG3 skos:exactMatch hgnc.symbol:STAG3 semapv:UnspecifiedMatching OMIM:608489 STAG3 skos:exactMatch ncbigene:10734 semapv:UnspecifiedMatching OMIM:608490 SLC38A1 skos:exactMatch UMLS:C1421999 semapv:UnspecifiedMatching -OMIM:608490 SLC38A1 skos:exactMatch hgnc:SLC38A1 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:13447 semapv:UnspecifiedMatching +OMIM:608490 SLC38A1 skos:exactMatch hgnc.symbol:SLC38A1 semapv:UnspecifiedMatching OMIM:608490 SLC38A1 skos:exactMatch ncbigene:81539 semapv:UnspecifiedMatching -OMIM:608491 DMTF1 skos:exactMatch hgnc:DMTF1 semapv:UnspecifiedMatching +OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:14603 semapv:UnspecifiedMatching +OMIM:608491 DMTF1 skos:exactMatch hgnc.symbol:DMTF1 semapv:UnspecifiedMatching OMIM:608491 DMTF1 skos:exactMatch ncbigene:9988 semapv:UnspecifiedMatching -OMIM:608492 OR5F1 skos:exactMatch hgnc:OR5F1 semapv:UnspecifiedMatching +OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:8343 semapv:UnspecifiedMatching +OMIM:608492 OR5F1 skos:exactMatch hgnc.symbol:OR5F1 semapv:UnspecifiedMatching OMIM:608492 OR5F1 skos:exactMatch ncbigene:338674 semapv:UnspecifiedMatching -OMIM:608493 OR10A1 skos:exactMatch hgnc:OR10A5 semapv:UnspecifiedMatching +OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:15131 semapv:UnspecifiedMatching +OMIM:608493 OR10A1 skos:exactMatch hgnc.symbol:OR10A5 semapv:UnspecifiedMatching OMIM:608493 OR10A1 skos:exactMatch ncbigene:144124 semapv:UnspecifiedMatching -OMIM:608494 OR2D2 skos:exactMatch hgnc:OR2D2 semapv:UnspecifiedMatching +OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:8244 semapv:UnspecifiedMatching +OMIM:608494 OR2D2 skos:exactMatch hgnc.symbol:OR2D2 semapv:UnspecifiedMatching OMIM:608494 OR2D2 skos:exactMatch ncbigene:120776 semapv:UnspecifiedMatching -OMIM:608495 OR6A2 skos:exactMatch hgnc:OR6A2 semapv:UnspecifiedMatching +OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:15301 semapv:UnspecifiedMatching +OMIM:608495 OR6A2 skos:exactMatch hgnc.symbol:OR6A2 semapv:UnspecifiedMatching OMIM:608495 OR6A2 skos:exactMatch ncbigene:8590 semapv:UnspecifiedMatching -OMIM:608496 OR5I1 skos:exactMatch hgnc:OR5I1 semapv:UnspecifiedMatching +OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:8347 semapv:UnspecifiedMatching +OMIM:608496 OR5I1 skos:exactMatch hgnc.symbol:OR5I1 semapv:UnspecifiedMatching OMIM:608496 OR5I1 skos:exactMatch ncbigene:10798 semapv:UnspecifiedMatching -OMIM:608497 OR2F1 skos:exactMatch hgnc:OR2F1 semapv:UnspecifiedMatching +OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:8246 semapv:UnspecifiedMatching +OMIM:608497 OR2F1 skos:exactMatch hgnc.symbol:OR2F1 semapv:UnspecifiedMatching OMIM:608497 OR2F1 skos:exactMatch ncbigene:26211 semapv:UnspecifiedMatching -OMIM:608498 ZPBP skos:exactMatch hgnc:ZPBP semapv:UnspecifiedMatching +OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:15662 semapv:UnspecifiedMatching +OMIM:608498 ZPBP skos:exactMatch hgnc.symbol:ZPBP semapv:UnspecifiedMatching OMIM:608498 ZPBP skos:exactMatch ncbigene:11055 semapv:UnspecifiedMatching -OMIM:608499 ZPBP2 skos:exactMatch hgnc:ZPBP2 semapv:UnspecifiedMatching +OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:20678 semapv:UnspecifiedMatching +OMIM:608499 ZPBP2 skos:exactMatch hgnc.symbol:ZPBP2 semapv:UnspecifiedMatching OMIM:608499 ZPBP2 skos:exactMatch ncbigene:124626 semapv:UnspecifiedMatching -OMIM:608500 PRICKLE1 skos:exactMatch hgnc:PRICKLE1 semapv:UnspecifiedMatching +OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:17019 semapv:UnspecifiedMatching +OMIM:608500 PRICKLE1 skos:exactMatch hgnc.symbol:PRICKLE1 semapv:UnspecifiedMatching OMIM:608500 PRICKLE1 skos:exactMatch ncbigene:144165 semapv:UnspecifiedMatching -OMIM:608501 PRICKLE2 skos:exactMatch hgnc:PRICKLE2 semapv:UnspecifiedMatching +OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:20340 semapv:UnspecifiedMatching +OMIM:608501 PRICKLE2 skos:exactMatch hgnc.symbol:PRICKLE2 semapv:UnspecifiedMatching OMIM:608501 PRICKLE2 skos:exactMatch ncbigene:166336 semapv:UnspecifiedMatching -OMIM:608502 PCBP3 skos:exactMatch hgnc:PCBP3 semapv:UnspecifiedMatching +OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:8651 semapv:UnspecifiedMatching +OMIM:608502 PCBP3 skos:exactMatch hgnc.symbol:PCBP3 semapv:UnspecifiedMatching OMIM:608502 PCBP3 skos:exactMatch ncbigene:54039 semapv:UnspecifiedMatching -OMIM:608503 PCBP4 skos:exactMatch hgnc:PCBP4 semapv:UnspecifiedMatching +OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:8652 semapv:UnspecifiedMatching +OMIM:608503 PCBP4 skos:exactMatch hgnc.symbol:PCBP4 semapv:UnspecifiedMatching OMIM:608503 PCBP4 skos:exactMatch ncbigene:57060 semapv:UnspecifiedMatching -OMIM:608504 ARHGEF15 skos:exactMatch hgnc:ARHGEF15 semapv:UnspecifiedMatching +OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:15590 semapv:UnspecifiedMatching +OMIM:608504 ARHGEF15 skos:exactMatch hgnc.symbol:ARHGEF15 semapv:UnspecifiedMatching OMIM:608504 ARHGEF15 skos:exactMatch ncbigene:22899 semapv:UnspecifiedMatching -OMIM:608506 MFN1 skos:exactMatch hgnc:MFN1 semapv:UnspecifiedMatching +OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:18262 semapv:UnspecifiedMatching +OMIM:608506 MFN1 skos:exactMatch hgnc.symbol:MFN1 semapv:UnspecifiedMatching OMIM:608506 MFN1 skos:exactMatch ncbigene:55669 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C0393807 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C1424611 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C4310725 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch UMLS:C4310875 semapv:UnspecifiedMatching -OMIM:608507 MFN2 skos:exactMatch hgnc:MFN2 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:16877 semapv:UnspecifiedMatching +OMIM:608507 MFN2 skos:exactMatch hgnc.symbol:MFN2 semapv:UnspecifiedMatching OMIM:608507 MFN2 skos:exactMatch ncbigene:9927 semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch UMLS:C1413843 semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch UMLS:C1856255 semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch UMLS:C4017159 semapv:UnspecifiedMatching -OMIM:608508 CYBA skos:exactMatch hgnc:CYBA semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch hgnc.symbol:2577 semapv:UnspecifiedMatching +OMIM:608508 CYBA skos:exactMatch hgnc.symbol:CYBA semapv:UnspecifiedMatching OMIM:608508 CYBA skos:exactMatch ncbigene:1535 semapv:UnspecifiedMatching -OMIM:608510 SH2D1B skos:exactMatch hgnc:SH2D1B semapv:UnspecifiedMatching +OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:30416 semapv:UnspecifiedMatching +OMIM:608510 SH2D1B skos:exactMatch hgnc.symbol:SH2D1B semapv:UnspecifiedMatching OMIM:608510 SH2D1B skos:exactMatch ncbigene:117157 semapv:UnspecifiedMatching -OMIM:608511 PHYHIP skos:exactMatch hgnc:PHYHIP semapv:UnspecifiedMatching +OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:16865 semapv:UnspecifiedMatching +OMIM:608511 PHYHIP skos:exactMatch hgnc.symbol:PHYHIP semapv:UnspecifiedMatching OMIM:608511 PHYHIP skos:exactMatch ncbigene:9796 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch UMLS:C1417608 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch UMLS:C1856251 semapv:UnspecifiedMatching -OMIM:608512 NCF1 skos:exactMatch hgnc:NCF1 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:7660 semapv:UnspecifiedMatching +OMIM:608512 NCF1 skos:exactMatch hgnc.symbol:NCF1 semapv:UnspecifiedMatching OMIM:608512 NCF1 skos:exactMatch ncbigene:653361 semapv:UnspecifiedMatching -OMIM:608513 RPPH1 skos:exactMatch hgnc:RPPH1 semapv:UnspecifiedMatching +OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:19273 semapv:UnspecifiedMatching +OMIM:608513 RPPH1 skos:exactMatch hgnc.symbol:RPPH1 semapv:UnspecifiedMatching OMIM:608513 RPPH1 skos:exactMatch ncbigene:85495 semapv:UnspecifiedMatching -OMIM:608514 AIG1 skos:exactMatch hgnc:AIG1 semapv:UnspecifiedMatching +OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:21607 semapv:UnspecifiedMatching +OMIM:608514 AIG1 skos:exactMatch hgnc.symbol:AIG1 semapv:UnspecifiedMatching OMIM:608514 AIG1 skos:exactMatch ncbigene:51390 semapv:UnspecifiedMatching OMIM:608515 NCF2 skos:exactMatch UMLS:C1417609 semapv:UnspecifiedMatching OMIM:608515 NCF2 skos:exactMatch UMLS:C1856245 semapv:UnspecifiedMatching -OMIM:608515 NCF2 skos:exactMatch hgnc:NCF2 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:7661 semapv:UnspecifiedMatching +OMIM:608515 NCF2 skos:exactMatch hgnc.symbol:NCF2 semapv:UnspecifiedMatching OMIM:608515 NCF2 skos:exactMatch ncbigene:4688 semapv:UnspecifiedMatching -OMIM:608517 MYPN skos:exactMatch hgnc:MYPN semapv:UnspecifiedMatching +OMIM:608517 MYPN skos:exactMatch hgnc.symbol:23246 semapv:UnspecifiedMatching +OMIM:608517 MYPN skos:exactMatch hgnc.symbol:MYPN semapv:UnspecifiedMatching OMIM:608517 MYPN skos:exactMatch ncbigene:84665 semapv:UnspecifiedMatching -OMIM:608519 FBXO16 skos:exactMatch hgnc:FBXO16 semapv:UnspecifiedMatching +OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:13618 semapv:UnspecifiedMatching +OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:FBXO16 semapv:UnspecifiedMatching OMIM:608519 FBXO16 skos:exactMatch ncbigene:157574 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch UMLS:C1425201 semapv:UnspecifiedMatching -OMIM:608521 LAMTOR5 skos:exactMatch hgnc:LAMTOR5 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:17955 semapv:UnspecifiedMatching +OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:LAMTOR5 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch ncbigene:10542 semapv:UnspecifiedMatching -OMIM:608522 HBXAP skos:exactMatch hgnc:RSF1 semapv:UnspecifiedMatching +OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:18118 semapv:UnspecifiedMatching +OMIM:608522 HBXAP skos:exactMatch hgnc.symbol:RSF1 semapv:UnspecifiedMatching OMIM:608522 HBXAP skos:exactMatch ncbigene:51773 semapv:UnspecifiedMatching -OMIM:608523 DIO3OS skos:exactMatch hgnc:DIO3OS semapv:UnspecifiedMatching +OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:20348 semapv:UnspecifiedMatching +OMIM:608523 DIO3OS skos:exactMatch hgnc.symbol:DIO3OS semapv:UnspecifiedMatching OMIM:608523 DIO3OS skos:exactMatch ncbigene:64150 semapv:UnspecifiedMatching OMIM:608524 ING4 skos:exactMatch UMLS:C1426234 semapv:UnspecifiedMatching -OMIM:608524 ING4 skos:exactMatch hgnc:ING4 semapv:UnspecifiedMatching +OMIM:608524 ING4 skos:exactMatch hgnc.symbol:19423 semapv:UnspecifiedMatching +OMIM:608524 ING4 skos:exactMatch hgnc.symbol:ING4 semapv:UnspecifiedMatching OMIM:608524 ING4 skos:exactMatch ncbigene:51147 semapv:UnspecifiedMatching -OMIM:608525 ING5 skos:exactMatch hgnc:ING5 semapv:UnspecifiedMatching +OMIM:608525 ING5 skos:exactMatch hgnc.symbol:19421 semapv:UnspecifiedMatching +OMIM:608525 ING5 skos:exactMatch hgnc.symbol:ING5 semapv:UnspecifiedMatching OMIM:608525 ING5 skos:exactMatch ncbigene:84289 semapv:UnspecifiedMatching -OMIM:608527 NEU4 skos:exactMatch hgnc:NEU4 semapv:UnspecifiedMatching +OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:21328 semapv:UnspecifiedMatching +OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:NEU4 semapv:UnspecifiedMatching OMIM:608527 NEU4 skos:exactMatch ncbigene:129807 semapv:UnspecifiedMatching OMIM:608528 PIGU skos:exactMatch UMLS:C1423732 semapv:UnspecifiedMatching OMIM:608528 PIGU skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching -OMIM:608528 PIGU skos:exactMatch hgnc:PIGU semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch hgnc.symbol:15791 semapv:UnspecifiedMatching +OMIM:608528 PIGU skos:exactMatch hgnc.symbol:PIGU semapv:UnspecifiedMatching OMIM:608528 PIGU skos:exactMatch ncbigene:128869 semapv:UnspecifiedMatching -OMIM:608529 FBN3 skos:exactMatch hgnc:FBN3 semapv:UnspecifiedMatching +OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:18794 semapv:UnspecifiedMatching +OMIM:608529 FBN3 skos:exactMatch hgnc.symbol:FBN3 semapv:UnspecifiedMatching OMIM:608529 FBN3 skos:exactMatch ncbigene:84467 semapv:UnspecifiedMatching -OMIM:608530 BTBD1 skos:exactMatch hgnc:BTBD1 semapv:UnspecifiedMatching +OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:1120 semapv:UnspecifiedMatching +OMIM:608530 BTBD1 skos:exactMatch hgnc.symbol:BTBD1 semapv:UnspecifiedMatching OMIM:608530 BTBD1 skos:exactMatch ncbigene:53339 semapv:UnspecifiedMatching -OMIM:608531 BTBD2 skos:exactMatch hgnc:BTBD2 semapv:UnspecifiedMatching +OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:15504 semapv:UnspecifiedMatching +OMIM:608531 BTBD2 skos:exactMatch hgnc.symbol:BTBD2 semapv:UnspecifiedMatching OMIM:608531 BTBD2 skos:exactMatch ncbigene:55643 semapv:UnspecifiedMatching -OMIM:608532 NCAPG2 skos:exactMatch hgnc:NCAPG2 semapv:UnspecifiedMatching +OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:21904 semapv:UnspecifiedMatching +OMIM:608532 NCAPG2 skos:exactMatch hgnc.symbol:NCAPG2 semapv:UnspecifiedMatching OMIM:608532 NCAPG2 skos:exactMatch ncbigene:54892 semapv:UnspecifiedMatching -OMIM:608533 FBXO38 skos:exactMatch hgnc:FBXO38 semapv:UnspecifiedMatching +OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:28844 semapv:UnspecifiedMatching +OMIM:608533 FBXO38 skos:exactMatch hgnc.symbol:FBXO38 semapv:UnspecifiedMatching OMIM:608533 FBXO38 skos:exactMatch ncbigene:81545 semapv:UnspecifiedMatching -OMIM:608534 actin-related protein m1 skos:exactMatch hgnc:ACTRT3 semapv:UnspecifiedMatching +OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:24022 semapv:UnspecifiedMatching +OMIM:608534 actin-related protein m1 skos:exactMatch hgnc.symbol:ACTRT3 semapv:UnspecifiedMatching OMIM:608534 actin-related protein m1 skos:exactMatch ncbigene:84517 semapv:UnspecifiedMatching -OMIM:608535 ACTRT2 skos:exactMatch hgnc:ACTRT2 semapv:UnspecifiedMatching +OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:24026 semapv:UnspecifiedMatching +OMIM:608535 ACTRT2 skos:exactMatch hgnc.symbol:ACTRT2 semapv:UnspecifiedMatching OMIM:608535 ACTRT2 skos:exactMatch ncbigene:140625 semapv:UnspecifiedMatching -OMIM:608536 GTPBP3 skos:exactMatch hgnc:GTPBP3 semapv:UnspecifiedMatching +OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:14880 semapv:UnspecifiedMatching +OMIM:608536 GTPBP3 skos:exactMatch hgnc.symbol:GTPBP3 semapv:UnspecifiedMatching OMIM:608536 GTPBP3 skos:exactMatch ncbigene:84705 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C0019562 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C0031511 semapv:UnspecifiedMatching @@ -25568,1471 +35461,2099 @@ OMIM:608537 VHL skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C4017160 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C4017161 semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch UMLS:C5394582 semapv:UnspecifiedMatching -OMIM:608537 VHL skos:exactMatch hgnc:VHL semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch hgnc.symbol:12687 semapv:UnspecifiedMatching +OMIM:608537 VHL skos:exactMatch hgnc.symbol:VHL semapv:UnspecifiedMatching OMIM:608537 VHL skos:exactMatch ncbigene:7428 semapv:UnspecifiedMatching -OMIM:608538 ARID5B skos:exactMatch hgnc:ARID5B semapv:UnspecifiedMatching +OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:17362 semapv:UnspecifiedMatching +OMIM:608538 ARID5B skos:exactMatch hgnc.symbol:ARID5B semapv:UnspecifiedMatching OMIM:608538 ARID5B skos:exactMatch ncbigene:84159 semapv:UnspecifiedMatching -OMIM:608539 GLIS2 skos:exactMatch hgnc:GLIS2 semapv:UnspecifiedMatching +OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:29450 semapv:UnspecifiedMatching +OMIM:608539 GLIS2 skos:exactMatch hgnc.symbol:GLIS2 semapv:UnspecifiedMatching OMIM:608539 GLIS2 skos:exactMatch ncbigene:84662 semapv:UnspecifiedMatching +OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch Orphanet:79327 semapv:UnspecifiedMatching OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch UMLS:C2931005 semapv:UnspecifiedMatching -OMIM:608540 congenital disorder of glycosylation, iia ik skos:exactMatch orphanet.ordo:79327 semapv:UnspecifiedMatching -OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc:ARHGAP32 semapv:UnspecifiedMatching +OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatching +OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching OMIM:608541 rho gtpase involved 1n beta-catenin, n-cadherin, and nmda receptor signaling skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching -OMIM:608544 HDAC10 skos:exactMatch hgnc:HDAC10 semapv:UnspecifiedMatching +OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:18128 semapv:UnspecifiedMatching +OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:HDAC10 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch ncbigene:83933 semapv:UnspecifiedMatching -OMIM:608546 EIF4A3 skos:exactMatch hgnc:EIF4A3 semapv:UnspecifiedMatching +OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:18683 semapv:UnspecifiedMatching +OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:EIF4A3 semapv:UnspecifiedMatching OMIM:608546 EIF4A3 skos:exactMatch ncbigene:9775 semapv:UnspecifiedMatching -OMIM:608547 VKORC1 skos:exactMatch hgnc:VKORC1 semapv:UnspecifiedMatching +OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:23663 semapv:UnspecifiedMatching +OMIM:608547 VKORC1 skos:exactMatch hgnc.symbol:VKORC1 semapv:UnspecifiedMatching OMIM:608547 VKORC1 skos:exactMatch ncbigene:79001 semapv:UnspecifiedMatching -OMIM:608548 HMCN1 skos:exactMatch hgnc:HMCN1 semapv:UnspecifiedMatching +OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:19194 semapv:UnspecifiedMatching +OMIM:608548 HMCN1 skos:exactMatch hgnc.symbol:HMCN1 semapv:UnspecifiedMatching OMIM:608548 HMCN1 skos:exactMatch ncbigene:83872 semapv:UnspecifiedMatching -OMIM:608549 VPS11 skos:exactMatch hgnc:VPS11 semapv:UnspecifiedMatching +OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:14583 semapv:UnspecifiedMatching +OMIM:608549 VPS11 skos:exactMatch hgnc.symbol:VPS11 semapv:UnspecifiedMatching OMIM:608549 VPS11 skos:exactMatch ncbigene:55823 semapv:UnspecifiedMatching -OMIM:608550 VPS16 skos:exactMatch hgnc:VPS16 semapv:UnspecifiedMatching +OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:14584 semapv:UnspecifiedMatching +OMIM:608550 VPS16 skos:exactMatch hgnc.symbol:VPS16 semapv:UnspecifiedMatching OMIM:608550 VPS16 skos:exactMatch ncbigene:64601 semapv:UnspecifiedMatching -OMIM:608551 VPS18 skos:exactMatch hgnc:VPS18 semapv:UnspecifiedMatching +OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:15972 semapv:UnspecifiedMatching +OMIM:608551 VPS18 skos:exactMatch hgnc.symbol:VPS18 semapv:UnspecifiedMatching OMIM:608551 VPS18 skos:exactMatch ncbigene:57617 semapv:UnspecifiedMatching -OMIM:608552 VPS33B skos:exactMatch hgnc:VPS33B semapv:UnspecifiedMatching +OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:12712 semapv:UnspecifiedMatching +OMIM:608552 VPS33B skos:exactMatch hgnc.symbol:VPS33B semapv:UnspecifiedMatching OMIM:608552 VPS33B skos:exactMatch ncbigene:26276 semapv:UnspecifiedMatching -OMIM:608554 NPAS4 skos:exactMatch hgnc:NPAS4 semapv:UnspecifiedMatching +OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:18983 semapv:UnspecifiedMatching +OMIM:608554 NPAS4 skos:exactMatch hgnc.symbol:NPAS4 semapv:UnspecifiedMatching OMIM:608554 NPAS4 skos:exactMatch ncbigene:266743 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch UMLS:C1417489 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching -OMIM:608555 MTX2 skos:exactMatch hgnc:MTX2 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:7506 semapv:UnspecifiedMatching +OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:MTX2 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch ncbigene:10651 semapv:UnspecifiedMatching -OMIM:608560 STAB1 skos:exactMatch hgnc:STAB1 semapv:UnspecifiedMatching +OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:18628 semapv:UnspecifiedMatching +OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:STAB1 semapv:UnspecifiedMatching OMIM:608560 STAB1 skos:exactMatch ncbigene:23166 semapv:UnspecifiedMatching -OMIM:608561 STAB2 skos:exactMatch hgnc:STAB2 semapv:UnspecifiedMatching +OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:18629 semapv:UnspecifiedMatching +OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:STAB2 semapv:UnspecifiedMatching OMIM:608561 STAB2 skos:exactMatch ncbigene:55576 semapv:UnspecifiedMatching OMIM:608564 GIT2 skos:exactMatch UMLS:C1333677 semapv:UnspecifiedMatching -OMIM:608564 GIT2 skos:exactMatch hgnc:GIT2 semapv:UnspecifiedMatching +OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:4273 semapv:UnspecifiedMatching +OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:GIT2 semapv:UnspecifiedMatching OMIM:608564 GIT2 skos:exactMatch ncbigene:9815 semapv:UnspecifiedMatching -OMIM:608566 MUC15 skos:exactMatch hgnc:MUC15 semapv:UnspecifiedMatching +OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:14956 semapv:UnspecifiedMatching +OMIM:608566 MUC15 skos:exactMatch hgnc.symbol:MUC15 semapv:UnspecifiedMatching OMIM:608566 MUC15 skos:exactMatch ncbigene:143662 semapv:UnspecifiedMatching -OMIM:608568 MYH14 skos:exactMatch hgnc:MYH14 semapv:UnspecifiedMatching +OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:23212 semapv:UnspecifiedMatching +OMIM:608568 MYH14 skos:exactMatch hgnc.symbol:MYH14 semapv:UnspecifiedMatching OMIM:608568 MYH14 skos:exactMatch ncbigene:79784 semapv:UnspecifiedMatching +OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch UMLS:C1837839 semapv:UnspecifiedMatching -OMIM:608569 cardiomyopathy, dilated, 1o skos:exactMatch orphanet.ordo:154 semapv:UnspecifiedMatching -OMIM:608570 AHNAK2 skos:exactMatch hgnc:AHNAK2 semapv:UnspecifiedMatching +OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:20125 semapv:UnspecifiedMatching +OMIM:608570 AHNAK2 skos:exactMatch hgnc.symbol:AHNAK2 semapv:UnspecifiedMatching OMIM:608570 AHNAK2 skos:exactMatch ncbigene:113146 semapv:UnspecifiedMatching -OMIM:608574 EMSY skos:exactMatch hgnc:EMSY semapv:UnspecifiedMatching +OMIM:608574 EMSY skos:exactMatch hgnc.symbol:18071 semapv:UnspecifiedMatching +OMIM:608574 EMSY skos:exactMatch hgnc.symbol:EMSY semapv:UnspecifiedMatching OMIM:608574 EMSY skos:exactMatch ncbigene:56946 semapv:UnspecifiedMatching -OMIM:608575 RDH8 skos:exactMatch hgnc:RDH8 semapv:UnspecifiedMatching +OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:14423 semapv:UnspecifiedMatching +OMIM:608575 RDH8 skos:exactMatch hgnc.symbol:RDH8 semapv:UnspecifiedMatching OMIM:608575 RDH8 skos:exactMatch ncbigene:50700 semapv:UnspecifiedMatching -OMIM:608576 GRHL2 skos:exactMatch hgnc:GRHL2 semapv:UnspecifiedMatching +OMIM:608576 GRHL2 skos:exactMatch hgnc.symbol:2799 semapv:UnspecifiedMatching +OMIM:608576 GRHL2 skos:exactMatch hgnc.symbol:GRHL2 semapv:UnspecifiedMatching OMIM:608576 GRHL2 skos:exactMatch ncbigene:79977 semapv:UnspecifiedMatching -OMIM:608577 CHURC1 skos:exactMatch hgnc:CHURC1 semapv:UnspecifiedMatching +OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:20099 semapv:UnspecifiedMatching +OMIM:608577 CHURC1 skos:exactMatch hgnc.symbol:CHURC1 semapv:UnspecifiedMatching OMIM:608577 CHURC1 skos:exactMatch ncbigene:91612 semapv:UnspecifiedMatching -OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc:MYH16 semapv:UnspecifiedMatching +OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:31038 semapv:UnspecifiedMatching +OMIM:608580 myosin, heavy chain 16, skeletal muscle, pseudogene skos:exactMatch hgnc.symbol:MYH16 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C1423850 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C4017164 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching -OMIM:608581 RP1L1 skos:exactMatch hgnc:RP1L1 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:15946 semapv:UnspecifiedMatching +OMIM:608581 RP1L1 skos:exactMatch hgnc.symbol:RP1L1 semapv:UnspecifiedMatching OMIM:608581 RP1L1 skos:exactMatch ncbigene:94137 semapv:UnspecifiedMatching -OMIM:608582 EGFL7 skos:exactMatch hgnc:EGFL7 semapv:UnspecifiedMatching +OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:20594 semapv:UnspecifiedMatching +OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:EGFL7 semapv:UnspecifiedMatching OMIM:608582 EGFL7 skos:exactMatch ncbigene:51162 semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch UMLS:C1825345 semapv:UnspecifiedMatching -OMIM:608587 GHDC skos:exactMatch hgnc:GHDC semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch hgnc.symbol:24438 semapv:UnspecifiedMatching +OMIM:608587 GHDC skos:exactMatch hgnc.symbol:GHDC semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch ncbigene:84514 semapv:UnspecifiedMatching OMIM:608588 DHX58 skos:exactMatch UMLS:C1837808 semapv:UnspecifiedMatching -OMIM:608588 DHX58 skos:exactMatch hgnc:DHX58 semapv:UnspecifiedMatching +OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:29517 semapv:UnspecifiedMatching +OMIM:608588 DHX58 skos:exactMatch hgnc.symbol:DHX58 semapv:UnspecifiedMatching OMIM:608588 DHX58 skos:exactMatch ncbigene:79132 semapv:UnspecifiedMatching -OMIM:608589 SLAMF9 skos:exactMatch hgnc:SLAMF9 semapv:UnspecifiedMatching +OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:18430 semapv:UnspecifiedMatching +OMIM:608589 SLAMF9 skos:exactMatch hgnc.symbol:SLAMF9 semapv:UnspecifiedMatching OMIM:608589 SLAMF9 skos:exactMatch ncbigene:89886 semapv:UnspecifiedMatching -OMIM:608592 CTDSPL skos:exactMatch hgnc:CTDSPL semapv:UnspecifiedMatching +OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:16890 semapv:UnspecifiedMatching +OMIM:608592 CTDSPL skos:exactMatch hgnc.symbol:CTDSPL semapv:UnspecifiedMatching OMIM:608592 CTDSPL skos:exactMatch ncbigene:10217 semapv:UnspecifiedMatching -OMIM:608593 CFHR5 skos:exactMatch hgnc:CFHR5 semapv:UnspecifiedMatching +OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:24668 semapv:UnspecifiedMatching +OMIM:608593 CFHR5 skos:exactMatch hgnc.symbol:CFHR5 semapv:UnspecifiedMatching OMIM:608593 CFHR5 skos:exactMatch ncbigene:81494 semapv:UnspecifiedMatching -OMIM:608595 NPSR1 skos:exactMatch hgnc:NPSR1 semapv:UnspecifiedMatching +OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:23631 semapv:UnspecifiedMatching +OMIM:608595 NPSR1 skos:exactMatch hgnc.symbol:NPSR1 semapv:UnspecifiedMatching OMIM:608595 NPSR1 skos:exactMatch ncbigene:387129 semapv:UnspecifiedMatching -OMIM:608596 NPSRAS1 skos:exactMatch hgnc:NPSR1-AS1 semapv:UnspecifiedMatching +OMIM:608596 NPSRAS1 skos:exactMatch hgnc.symbol:22128 semapv:UnspecifiedMatching +OMIM:608596 NPSRAS1 skos:exactMatch hgnc.symbol:NPSR1-AS1 semapv:UnspecifiedMatching OMIM:608596 NPSRAS1 skos:exactMatch ncbigene:404744 semapv:UnspecifiedMatching -OMIM:608597 NEURL2 skos:exactMatch hgnc:NEURL2 semapv:UnspecifiedMatching +OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:16156 semapv:UnspecifiedMatching +OMIM:608597 NEURL2 skos:exactMatch hgnc.symbol:NEURL2 semapv:UnspecifiedMatching OMIM:608597 NEURL2 skos:exactMatch ncbigene:140825 semapv:UnspecifiedMatching -OMIM:608598 CASC2 skos:exactMatch hgnc:CASC2 semapv:UnspecifiedMatching +OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:22933 semapv:UnspecifiedMatching +OMIM:608598 CASC2 skos:exactMatch hgnc.symbol:CASC2 semapv:UnspecifiedMatching OMIM:608598 CASC2 skos:exactMatch ncbigene:255082 semapv:UnspecifiedMatching -OMIM:608599 RAB11FIP2 skos:exactMatch hgnc:RAB11FIP2 semapv:UnspecifiedMatching +OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:29152 semapv:UnspecifiedMatching +OMIM:608599 RAB11FIP2 skos:exactMatch hgnc.symbol:RAB11FIP2 semapv:UnspecifiedMatching OMIM:608599 RAB11FIP2 skos:exactMatch ncbigene:22841 semapv:UnspecifiedMatching -OMIM:608601 FBS1 skos:exactMatch hgnc:FBRS semapv:UnspecifiedMatching +OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:20442 semapv:UnspecifiedMatching +OMIM:608601 FBS1 skos:exactMatch hgnc.symbol:FBRS semapv:UnspecifiedMatching OMIM:608601 FBS1 skos:exactMatch ncbigene:64319 semapv:UnspecifiedMatching -OMIM:608602 SP140 skos:exactMatch hgnc:SP140 semapv:UnspecifiedMatching +OMIM:608602 SP140 skos:exactMatch hgnc.symbol:17133 semapv:UnspecifiedMatching +OMIM:608602 SP140 skos:exactMatch hgnc.symbol:SP140 semapv:UnspecifiedMatching OMIM:608602 SP140 skos:exactMatch ncbigene:11262 semapv:UnspecifiedMatching -OMIM:608603 GLDN skos:exactMatch hgnc:GLDN semapv:UnspecifiedMatching +OMIM:608603 GLDN skos:exactMatch hgnc.symbol:29514 semapv:UnspecifiedMatching +OMIM:608603 GLDN skos:exactMatch hgnc.symbol:GLDN semapv:UnspecifiedMatching OMIM:608603 GLDN skos:exactMatch ncbigene:342035 semapv:UnspecifiedMatching -OMIM:608604 RBP7 skos:exactMatch hgnc:RBP7 semapv:UnspecifiedMatching +OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:30316 semapv:UnspecifiedMatching +OMIM:608604 RBP7 skos:exactMatch hgnc.symbol:RBP7 semapv:UnspecifiedMatching OMIM:608604 RBP7 skos:exactMatch ncbigene:116362 semapv:UnspecifiedMatching OMIM:608605 STT3B skos:exactMatch UMLS:C1823139 semapv:UnspecifiedMatching OMIM:608605 STT3B skos:exactMatch UMLS:C2931007 semapv:UnspecifiedMatching -OMIM:608605 STT3B skos:exactMatch hgnc:STT3B semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch hgnc.symbol:30611 semapv:UnspecifiedMatching +OMIM:608605 STT3B skos:exactMatch hgnc.symbol:STT3B semapv:UnspecifiedMatching OMIM:608605 STT3B skos:exactMatch ncbigene:201595 semapv:UnspecifiedMatching -OMIM:608606 BHLHA15 skos:exactMatch hgnc:BHLHA15 semapv:UnspecifiedMatching +OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:22265 semapv:UnspecifiedMatching +OMIM:608606 BHLHA15 skos:exactMatch hgnc.symbol:BHLHA15 semapv:UnspecifiedMatching OMIM:608606 BHLHA15 skos:exactMatch ncbigene:168620 semapv:UnspecifiedMatching -OMIM:608607 NBPF12 skos:exactMatch hgnc:NBPF12 semapv:UnspecifiedMatching +OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:24297 semapv:UnspecifiedMatching +OMIM:608607 NBPF12 skos:exactMatch hgnc.symbol:NBPF12 semapv:UnspecifiedMatching OMIM:608607 NBPF12 skos:exactMatch ncbigene:149013 semapv:UnspecifiedMatching -OMIM:608608 PPIAL4E skos:exactMatch hgnc:PPIAL4E semapv:UnspecifiedMatching +OMIM:608608 PPIAL4E skos:exactMatch hgnc.symbol:33997 semapv:UnspecifiedMatching +OMIM:608608 PPIAL4E skos:exactMatch hgnc.symbol:PPIAL4E semapv:UnspecifiedMatching OMIM:608608 PPIAL4E skos:exactMatch ncbigene:730262 semapv:UnspecifiedMatching -OMIM:608609 C1ORF152 skos:exactMatch hgnc:PFN1P2 semapv:UnspecifiedMatching +OMIM:608609 C1ORF152 skos:exactMatch hgnc.symbol:24298 semapv:UnspecifiedMatching +OMIM:608609 C1ORF152 skos:exactMatch hgnc.symbol:PFN1P2 semapv:UnspecifiedMatching OMIM:608609 C1ORF152 skos:exactMatch ncbigene:767846 semapv:UnspecifiedMatching -OMIM:608610 PDCD4 skos:exactMatch hgnc:PDCD4 semapv:UnspecifiedMatching +OMIM:608610 PDCD4 skos:exactMatch hgnc.symbol:8763 semapv:UnspecifiedMatching +OMIM:608610 PDCD4 skos:exactMatch hgnc.symbol:PDCD4 semapv:UnspecifiedMatching OMIM:608610 PDCD4 skos:exactMatch ncbigene:27250 semapv:UnspecifiedMatching +OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch Orphanet:2457 semapv:UnspecifiedMatching +OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch Orphanet:90154 semapv:UnspecifiedMatching OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch UMLS:C1837756 semapv:UnspecifiedMatching -OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch orphanet.ordo:2457 semapv:UnspecifiedMatching -OMIM:608612 mandibuloacral dysplasia with iia B lipodystrophy skos:exactMatch orphanet.ordo:90154 semapv:UnspecifiedMatching -OMIM:608613 SP6 skos:exactMatch hgnc:SP6 semapv:UnspecifiedMatching +OMIM:608613 SP6 skos:exactMatch hgnc.symbol:14530 semapv:UnspecifiedMatching +OMIM:608613 SP6 skos:exactMatch hgnc.symbol:SP6 semapv:UnspecifiedMatching OMIM:608613 SP6 skos:exactMatch ncbigene:80320 semapv:UnspecifiedMatching -OMIM:608614 CYP4V2 skos:exactMatch hgnc:CYP4V2 semapv:UnspecifiedMatching +OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:23198 semapv:UnspecifiedMatching +OMIM:608614 CYP4V2 skos:exactMatch hgnc.symbol:CYP4V2 semapv:UnspecifiedMatching OMIM:608614 CYP4V2 skos:exactMatch ncbigene:285440 semapv:UnspecifiedMatching -OMIM:608616 OBSCN skos:exactMatch hgnc:OBSCN semapv:UnspecifiedMatching +OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:15719 semapv:UnspecifiedMatching +OMIM:608616 OBSCN skos:exactMatch hgnc.symbol:OBSCN semapv:UnspecifiedMatching OMIM:608616 OBSCN skos:exactMatch ncbigene:84033 semapv:UnspecifiedMatching -OMIM:608617 FAM3B skos:exactMatch hgnc:FAM3B semapv:UnspecifiedMatching +OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:1253 semapv:UnspecifiedMatching +OMIM:608617 FAM3B skos:exactMatch hgnc.symbol:FAM3B semapv:UnspecifiedMatching OMIM:608617 FAM3B skos:exactMatch ncbigene:54097 semapv:UnspecifiedMatching -OMIM:608618 FAM3C skos:exactMatch hgnc:FAM3C semapv:UnspecifiedMatching +OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:18664 semapv:UnspecifiedMatching +OMIM:608618 FAM3C skos:exactMatch hgnc.symbol:FAM3C semapv:UnspecifiedMatching OMIM:608618 FAM3C skos:exactMatch ncbigene:10447 semapv:UnspecifiedMatching -OMIM:608619 FAM3D skos:exactMatch hgnc:FAM3D semapv:UnspecifiedMatching +OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:18665 semapv:UnspecifiedMatching +OMIM:608619 FAM3D skos:exactMatch hgnc.symbol:FAM3D semapv:UnspecifiedMatching OMIM:608619 FAM3D skos:exactMatch ncbigene:131177 semapv:UnspecifiedMatching -OMIM:608621 SPA17 skos:exactMatch hgnc:SPA17 semapv:UnspecifiedMatching +OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:11210 semapv:UnspecifiedMatching +OMIM:608621 SPA17 skos:exactMatch hgnc.symbol:SPA17 semapv:UnspecifiedMatching OMIM:608621 SPA17 skos:exactMatch ncbigene:53340 semapv:UnspecifiedMatching -OMIM:608625 PTRH2 skos:exactMatch hgnc:PTRH2 semapv:UnspecifiedMatching +OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:24265 semapv:UnspecifiedMatching +OMIM:608625 PTRH2 skos:exactMatch hgnc.symbol:PTRH2 semapv:UnspecifiedMatching OMIM:608625 PTRH2 skos:exactMatch ncbigene:51651 semapv:UnspecifiedMatching -OMIM:608626 STRADA skos:exactMatch hgnc:STRADA semapv:UnspecifiedMatching +OMIM:608626 STRADA skos:exactMatch hgnc.symbol:30172 semapv:UnspecifiedMatching +OMIM:608626 STRADA skos:exactMatch hgnc.symbol:STRADA semapv:UnspecifiedMatching OMIM:608626 STRADA skos:exactMatch ncbigene:92335 semapv:UnspecifiedMatching -OMIM:608628 TBL1XR1 skos:exactMatch hgnc:TBL1XR1 semapv:UnspecifiedMatching +OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:29529 semapv:UnspecifiedMatching +OMIM:608628 TBL1XR1 skos:exactMatch hgnc.symbol:TBL1XR1 semapv:UnspecifiedMatching OMIM:608628 TBL1XR1 skos:exactMatch ncbigene:79718 semapv:UnspecifiedMatching -OMIM:608630 ROBO3 skos:exactMatch hgnc:ROBO3 semapv:UnspecifiedMatching +OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:13433 semapv:UnspecifiedMatching +OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:ROBO3 semapv:UnspecifiedMatching OMIM:608630 ROBO3 skos:exactMatch ncbigene:64221 semapv:UnspecifiedMatching -OMIM:608632 MIR196A1 skos:exactMatch hgnc:MIR196A1 semapv:UnspecifiedMatching +OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:31567 semapv:UnspecifiedMatching +OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:MIR196A1 semapv:UnspecifiedMatching OMIM:608632 MIR196A1 skos:exactMatch ncbigene:406972 semapv:UnspecifiedMatching -OMIM:608633 CASP12 skos:exactMatch hgnc:CASP12 semapv:UnspecifiedMatching +OMIM:608633 CASP12 skos:exactMatch hgnc.symbol:19004 semapv:UnspecifiedMatching +OMIM:608633 CASP12 skos:exactMatch hgnc.symbol:CASP12 semapv:UnspecifiedMatching OMIM:608633 CASP12 skos:exactMatch ncbigene:100506742 semapv:UnspecifiedMatching -OMIM:608635 ADAP2 skos:exactMatch hgnc:ADAP2 semapv:UnspecifiedMatching +OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:16487 semapv:UnspecifiedMatching +OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:ADAP2 semapv:UnspecifiedMatching OMIM:608635 ADAP2 skos:exactMatch ncbigene:55803 semapv:UnspecifiedMatching -OMIM:608639 PLEKHA8 skos:exactMatch hgnc:PLEKHA8 semapv:UnspecifiedMatching +OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:30037 semapv:UnspecifiedMatching +OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:PLEKHA8 semapv:UnspecifiedMatching OMIM:608639 PLEKHA8 skos:exactMatch ncbigene:84725 semapv:UnspecifiedMatching -OMIM:608640 ZNF461 skos:exactMatch hgnc:ZNF461 semapv:UnspecifiedMatching +OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:21629 semapv:UnspecifiedMatching +OMIM:608640 ZNF461 skos:exactMatch hgnc.symbol:ZNF461 semapv:UnspecifiedMatching OMIM:608640 ZNF461 skos:exactMatch ncbigene:92283 semapv:UnspecifiedMatching -OMIM:608642 ZADH1 skos:exactMatch hgnc:PTGR2 semapv:UnspecifiedMatching +OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:20149 semapv:UnspecifiedMatching +OMIM:608642 ZADH1 skos:exactMatch hgnc.symbol:PTGR2 semapv:UnspecifiedMatching OMIM:608642 ZADH1 skos:exactMatch ncbigene:145482 semapv:UnspecifiedMatching +OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 semapv:UnspecifiedMatching OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching -OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch orphanet.ordo:35708 semapv:UnspecifiedMatching -OMIM:608648 SEC63 skos:exactMatch hgnc:SEC63 semapv:UnspecifiedMatching +OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:21082 semapv:UnspecifiedMatching +OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:SEC63 semapv:UnspecifiedMatching OMIM:608648 SEC63 skos:exactMatch ncbigene:11231 semapv:UnspecifiedMatching -OMIM:608650 ULK2 skos:exactMatch hgnc:ULK2 semapv:UnspecifiedMatching +OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:13480 semapv:UnspecifiedMatching +OMIM:608650 ULK2 skos:exactMatch hgnc.symbol:ULK2 semapv:UnspecifiedMatching OMIM:608650 ULK2 skos:exactMatch ncbigene:9706 semapv:UnspecifiedMatching -OMIM:608651 AGAP1 skos:exactMatch hgnc:AGAP1 semapv:UnspecifiedMatching +OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:16922 semapv:UnspecifiedMatching +OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:AGAP1 semapv:UnspecifiedMatching OMIM:608651 AGAP1 skos:exactMatch ncbigene:116987 semapv:UnspecifiedMatching -OMIM:608655 GJC1 skos:exactMatch hgnc:GJC1 semapv:UnspecifiedMatching +OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:4280 semapv:UnspecifiedMatching +OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:GJC1 semapv:UnspecifiedMatching OMIM:608655 GJC1 skos:exactMatch ncbigene:10052 semapv:UnspecifiedMatching -OMIM:608657 JDP2 skos:exactMatch hgnc:JDP2 semapv:UnspecifiedMatching +OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:17546 semapv:UnspecifiedMatching +OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:JDP2 semapv:UnspecifiedMatching OMIM:608657 JDP2 skos:exactMatch ncbigene:122953 semapv:UnspecifiedMatching -OMIM:608659 SENP8 skos:exactMatch hgnc:SENP8 semapv:UnspecifiedMatching +OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:22992 semapv:UnspecifiedMatching +OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:SENP8 semapv:UnspecifiedMatching OMIM:608659 SENP8 skos:exactMatch ncbigene:123228 semapv:UnspecifiedMatching OMIM:608660 INSIG2 skos:exactMatch UMLS:C1426946 semapv:UnspecifiedMatching -OMIM:608660 INSIG2 skos:exactMatch hgnc:INSIG2 semapv:UnspecifiedMatching +OMIM:608660 INSIG2 skos:exactMatch hgnc.symbol:20452 semapv:UnspecifiedMatching +OMIM:608660 INSIG2 skos:exactMatch hgnc.symbol:INSIG2 semapv:UnspecifiedMatching OMIM:608660 INSIG2 skos:exactMatch ncbigene:51141 semapv:UnspecifiedMatching -OMIM:608661 PODN skos:exactMatch hgnc:PODN semapv:UnspecifiedMatching +OMIM:608661 PODN skos:exactMatch hgnc.symbol:23174 semapv:UnspecifiedMatching +OMIM:608661 PODN skos:exactMatch hgnc.symbol:PODN semapv:UnspecifiedMatching OMIM:608661 PODN skos:exactMatch ncbigene:127435 semapv:UnspecifiedMatching -OMIM:608662 ANO5 skos:exactMatch hgnc:ANO5 semapv:UnspecifiedMatching +OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:27337 semapv:UnspecifiedMatching +OMIM:608662 ANO5 skos:exactMatch hgnc.symbol:ANO5 semapv:UnspecifiedMatching OMIM:608662 ANO5 skos:exactMatch ncbigene:203859 semapv:UnspecifiedMatching -OMIM:608663 ANO6 skos:exactMatch hgnc:ANO6 semapv:UnspecifiedMatching +OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:25240 semapv:UnspecifiedMatching +OMIM:608663 ANO6 skos:exactMatch hgnc.symbol:ANO6 semapv:UnspecifiedMatching OMIM:608663 ANO6 skos:exactMatch ncbigene:196527 semapv:UnspecifiedMatching -OMIM:608665 PSMC3IP skos:exactMatch hgnc:PSMC3IP semapv:UnspecifiedMatching +OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:17928 semapv:UnspecifiedMatching +OMIM:608665 PSMC3IP skos:exactMatch hgnc.symbol:PSMC3IP semapv:UnspecifiedMatching OMIM:608665 PSMC3IP skos:exactMatch ncbigene:29893 semapv:UnspecifiedMatching -OMIM:608666 PEX26 skos:exactMatch hgnc:PEX26 semapv:UnspecifiedMatching +OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:22965 semapv:UnspecifiedMatching +OMIM:608666 PEX26 skos:exactMatch hgnc.symbol:PEX26 semapv:UnspecifiedMatching OMIM:608666 PEX26 skos:exactMatch ncbigene:55670 semapv:UnspecifiedMatching OMIM:608667 NIPBL skos:exactMatch UMLS:C1538063 semapv:UnspecifiedMatching OMIM:608667 NIPBL skos:exactMatch UMLS:C4551851 semapv:UnspecifiedMatching -OMIM:608667 NIPBL skos:exactMatch hgnc:NIPBL semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch hgnc.symbol:28862 semapv:UnspecifiedMatching +OMIM:608667 NIPBL skos:exactMatch hgnc.symbol:NIPBL semapv:UnspecifiedMatching OMIM:608667 NIPBL skos:exactMatch ncbigene:25836 semapv:UnspecifiedMatching -OMIM:608668 ZMYND11 skos:exactMatch hgnc:ZMYND11 semapv:UnspecifiedMatching +OMIM:608668 ZMYND11 skos:exactMatch hgnc.symbol:16966 semapv:UnspecifiedMatching +OMIM:608668 ZMYND11 skos:exactMatch hgnc.symbol:ZMYND11 semapv:UnspecifiedMatching OMIM:608668 ZMYND11 skos:exactMatch ncbigene:10771 semapv:UnspecifiedMatching OMIM:608669 BNC2 skos:exactMatch UMLS:C1538958 semapv:UnspecifiedMatching OMIM:608669 BNC2 skos:exactMatch UMLS:C5231427 semapv:UnspecifiedMatching -OMIM:608669 BNC2 skos:exactMatch hgnc:BNC2 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:30988 semapv:UnspecifiedMatching +OMIM:608669 BNC2 skos:exactMatch hgnc.symbol:BNC2 semapv:UnspecifiedMatching OMIM:608669 BNC2 skos:exactMatch ncbigene:54796 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch UMLS:C1427196 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching -OMIM:608671 DZIP1 skos:exactMatch hgnc:DZIP1 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:20908 semapv:UnspecifiedMatching +OMIM:608671 DZIP1 skos:exactMatch hgnc.symbol:DZIP1 semapv:UnspecifiedMatching OMIM:608671 DZIP1 skos:exactMatch ncbigene:22873 semapv:UnspecifiedMatching -OMIM:608672 DZIP3 skos:exactMatch hgnc:DZIP3 semapv:UnspecifiedMatching +OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:30938 semapv:UnspecifiedMatching +OMIM:608672 DZIP3 skos:exactMatch hgnc.symbol:DZIP3 semapv:UnspecifiedMatching OMIM:608672 DZIP3 skos:exactMatch ncbigene:9666 semapv:UnspecifiedMatching -OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc:SH3D19 semapv:UnspecifiedMatching +OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:30418 semapv:UnspecifiedMatching +OMIM:608674 sh3 domain protein 19 skos:exactMatch hgnc.symbol:SH3D19 semapv:UnspecifiedMatching OMIM:608674 sh3 domain protein 19 skos:exactMatch ncbigene:152503 semapv:UnspecifiedMatching -OMIM:608675 FCSK skos:exactMatch hgnc:FCSK semapv:UnspecifiedMatching +OMIM:608675 FCSK skos:exactMatch hgnc.symbol:29500 semapv:UnspecifiedMatching +OMIM:608675 FCSK skos:exactMatch hgnc.symbol:FCSK semapv:UnspecifiedMatching OMIM:608675 FCSK skos:exactMatch ncbigene:197258 semapv:UnspecifiedMatching -OMIM:608676 TXLNA skos:exactMatch hgnc:TXLNA semapv:UnspecifiedMatching +OMIM:608676 TXLNA skos:exactMatch hgnc.symbol:30685 semapv:UnspecifiedMatching +OMIM:608676 TXLNA skos:exactMatch hgnc.symbol:TXLNA semapv:UnspecifiedMatching OMIM:608676 TXLNA skos:exactMatch ncbigene:200081 semapv:UnspecifiedMatching -OMIM:608677 MIB1 skos:exactMatch hgnc:MIB1 semapv:UnspecifiedMatching +OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:21086 semapv:UnspecifiedMatching +OMIM:608677 MIB1 skos:exactMatch hgnc.symbol:MIB1 semapv:UnspecifiedMatching OMIM:608677 MIB1 skos:exactMatch ncbigene:57534 semapv:UnspecifiedMatching OMIM:608678 IL33 skos:exactMatch UMLS:C1825595 semapv:UnspecifiedMatching -OMIM:608678 IL33 skos:exactMatch hgnc:IL33 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch hgnc.symbol:16028 semapv:UnspecifiedMatching +OMIM:608678 IL33 skos:exactMatch hgnc.symbol:IL33 semapv:UnspecifiedMatching OMIM:608678 IL33 skos:exactMatch ncbigene:90865 semapv:UnspecifiedMatching OMIM:608679 TP53RK skos:exactMatch UMLS:C1540041 semapv:UnspecifiedMatching OMIM:608679 TP53RK skos:exactMatch UMLS:C4540270 semapv:UnspecifiedMatching -OMIM:608679 TP53RK skos:exactMatch hgnc:TP53RK semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:16197 semapv:UnspecifiedMatching +OMIM:608679 TP53RK skos:exactMatch hgnc.symbol:TP53RK semapv:UnspecifiedMatching OMIM:608679 TP53RK skos:exactMatch ncbigene:112858 semapv:UnspecifiedMatching -OMIM:608680 TPRKB skos:exactMatch hgnc:TPRKB semapv:UnspecifiedMatching +OMIM:608680 TPRKB skos:exactMatch hgnc.symbol:24259 semapv:UnspecifiedMatching +OMIM:608680 TPRKB skos:exactMatch hgnc.symbol:TPRKB semapv:UnspecifiedMatching OMIM:608680 TPRKB skos:exactMatch ncbigene:51002 semapv:UnspecifiedMatching -OMIM:608682 ADM2 skos:exactMatch hgnc:ADM2 semapv:UnspecifiedMatching +OMIM:608682 ADM2 skos:exactMatch hgnc.symbol:28898 semapv:UnspecifiedMatching +OMIM:608682 ADM2 skos:exactMatch hgnc.symbol:ADM2 semapv:UnspecifiedMatching OMIM:608682 ADM2 skos:exactMatch ncbigene:79924 semapv:UnspecifiedMatching -OMIM:608683 CST8 skos:exactMatch hgnc:CST8 semapv:UnspecifiedMatching +OMIM:608683 CST8 skos:exactMatch hgnc.symbol:2480 semapv:UnspecifiedMatching +OMIM:608683 CST8 skos:exactMatch hgnc.symbol:CST8 semapv:UnspecifiedMatching OMIM:608683 CST8 skos:exactMatch ncbigene:10047 semapv:UnspecifiedMatching -OMIM:608684 NIN skos:exactMatch hgnc:NIN semapv:UnspecifiedMatching +OMIM:608684 NIN skos:exactMatch hgnc.symbol:14906 semapv:UnspecifiedMatching +OMIM:608684 NIN skos:exactMatch hgnc.symbol:NIN semapv:UnspecifiedMatching OMIM:608684 NIN skos:exactMatch ncbigene:51199 semapv:UnspecifiedMatching -OMIM:608685 SMC1B skos:exactMatch hgnc:SMC1B semapv:UnspecifiedMatching +OMIM:608685 SMC1B skos:exactMatch hgnc.symbol:11112 semapv:UnspecifiedMatching +OMIM:608685 SMC1B skos:exactMatch hgnc.symbol:SMC1B semapv:UnspecifiedMatching OMIM:608685 SMC1B skos:exactMatch ncbigene:27127 semapv:UnspecifiedMatching -OMIM:608686 RAB3IP skos:exactMatch hgnc:RAB3IP semapv:UnspecifiedMatching +OMIM:608686 RAB3IP skos:exactMatch hgnc.symbol:16508 semapv:UnspecifiedMatching +OMIM:608686 RAB3IP skos:exactMatch hgnc.symbol:RAB3IP semapv:UnspecifiedMatching OMIM:608686 RAB3IP skos:exactMatch ncbigene:117177 semapv:UnspecifiedMatching +OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch Orphanet:250977 semapv:UnspecifiedMatching OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch UMLS:C1837530 semapv:UnspecifiedMatching -OMIM:608688 aica-ribosuria due to atic deficiency skos:exactMatch orphanet.ordo:250977 semapv:UnspecifiedMatching -OMIM:608689 MESP1 skos:exactMatch hgnc:MESP1 semapv:UnspecifiedMatching +OMIM:608689 MESP1 skos:exactMatch hgnc.symbol:29658 semapv:UnspecifiedMatching +OMIM:608689 MESP1 skos:exactMatch hgnc.symbol:MESP1 semapv:UnspecifiedMatching OMIM:608689 MESP1 skos:exactMatch ncbigene:55897 semapv:UnspecifiedMatching -OMIM:608690 SSX2IP skos:exactMatch hgnc:SSX2IP semapv:UnspecifiedMatching +OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:16509 semapv:UnspecifiedMatching +OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:SSX2IP semapv:UnspecifiedMatching OMIM:608690 SSX2IP skos:exactMatch ncbigene:117178 semapv:UnspecifiedMatching -OMIM:608692 BLZF1 skos:exactMatch hgnc:BLZF1 semapv:UnspecifiedMatching +OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:1065 semapv:UnspecifiedMatching +OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:BLZF1 semapv:UnspecifiedMatching OMIM:608692 BLZF1 skos:exactMatch ncbigene:8548 semapv:UnspecifiedMatching -OMIM:608693 GORASP2 skos:exactMatch hgnc:GORASP2 semapv:UnspecifiedMatching +OMIM:608693 GORASP2 skos:exactMatch hgnc.symbol:17500 semapv:UnspecifiedMatching +OMIM:608693 GORASP2 skos:exactMatch hgnc.symbol:GORASP2 semapv:UnspecifiedMatching OMIM:608693 GORASP2 skos:exactMatch ncbigene:26003 semapv:UnspecifiedMatching -OMIM:608694 ZNF622 skos:exactMatch hgnc:ZNF622 semapv:UnspecifiedMatching +OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:30958 semapv:UnspecifiedMatching +OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:ZNF622 semapv:UnspecifiedMatching OMIM:608694 ZNF622 skos:exactMatch ncbigene:90441 semapv:UnspecifiedMatching -OMIM:608697 FIGLA skos:exactMatch hgnc:FIGLA semapv:UnspecifiedMatching +OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:24669 semapv:UnspecifiedMatching +OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:FIGLA semapv:UnspecifiedMatching OMIM:608697 FIGLA skos:exactMatch ncbigene:344018 semapv:UnspecifiedMatching -OMIM:608698 DCBLD2 skos:exactMatch hgnc:DCBLD2 semapv:UnspecifiedMatching +OMIM:608698 DCBLD2 skos:exactMatch hgnc.symbol:24627 semapv:UnspecifiedMatching +OMIM:608698 DCBLD2 skos:exactMatch hgnc.symbol:DCBLD2 semapv:UnspecifiedMatching OMIM:608698 DCBLD2 skos:exactMatch ncbigene:131566 semapv:UnspecifiedMatching OMIM:608699 BMPER skos:exactMatch UMLS:C1826624 semapv:UnspecifiedMatching OMIM:608699 BMPER skos:exactMatch UMLS:C1842691 semapv:UnspecifiedMatching -OMIM:608699 BMPER skos:exactMatch hgnc:BMPER semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch hgnc.symbol:24154 semapv:UnspecifiedMatching +OMIM:608699 BMPER skos:exactMatch hgnc.symbol:BMPER semapv:UnspecifiedMatching OMIM:608699 BMPER skos:exactMatch ncbigene:168667 semapv:UnspecifiedMatching -OMIM:608700 NMNAT1 skos:exactMatch hgnc:NMNAT1 semapv:UnspecifiedMatching +OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:17877 semapv:UnspecifiedMatching +OMIM:608700 NMNAT1 skos:exactMatch hgnc.symbol:NMNAT1 semapv:UnspecifiedMatching OMIM:608700 NMNAT1 skos:exactMatch ncbigene:64802 semapv:UnspecifiedMatching -OMIM:608701 NMNAT2 skos:exactMatch hgnc:NMNAT2 semapv:UnspecifiedMatching +OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:16789 semapv:UnspecifiedMatching +OMIM:608701 NMNAT2 skos:exactMatch hgnc.symbol:NMNAT2 semapv:UnspecifiedMatching OMIM:608701 NMNAT2 skos:exactMatch ncbigene:23057 semapv:UnspecifiedMatching -OMIM:608702 NMNAT3 skos:exactMatch hgnc:NMNAT3 semapv:UnspecifiedMatching +OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:20989 semapv:UnspecifiedMatching +OMIM:608702 NMNAT3 skos:exactMatch hgnc.symbol:NMNAT3 semapv:UnspecifiedMatching OMIM:608702 NMNAT3 skos:exactMatch ncbigene:349565 semapv:UnspecifiedMatching -OMIM:608704 NMRK1 skos:exactMatch hgnc:NMRK1 semapv:UnspecifiedMatching +OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:26057 semapv:UnspecifiedMatching +OMIM:608704 NMRK1 skos:exactMatch hgnc.symbol:NMRK1 semapv:UnspecifiedMatching OMIM:608704 NMRK1 skos:exactMatch ncbigene:54981 semapv:UnspecifiedMatching -OMIM:608705 ITGB1BP3 skos:exactMatch hgnc:NMRK2 semapv:UnspecifiedMatching +OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:17871 semapv:UnspecifiedMatching +OMIM:608705 ITGB1BP3 skos:exactMatch hgnc.symbol:NMRK2 semapv:UnspecifiedMatching OMIM:608705 ITGB1BP3 skos:exactMatch ncbigene:27231 semapv:UnspecifiedMatching -OMIM:608706 DNAAF4 skos:exactMatch hgnc:DNAAF4 semapv:UnspecifiedMatching +OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:21493 semapv:UnspecifiedMatching +OMIM:608706 DNAAF4 skos:exactMatch hgnc.symbol:DNAAF4 semapv:UnspecifiedMatching OMIM:608706 DNAAF4 skos:exactMatch ncbigene:161582 semapv:UnspecifiedMatching OMIM:608707 CDON skos:exactMatch UMLS:C1332740 semapv:UnspecifiedMatching OMIM:608707 CDON skos:exactMatch UMLS:C3280215 semapv:UnspecifiedMatching -OMIM:608707 CDON skos:exactMatch hgnc:CDON semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch hgnc.symbol:17104 semapv:UnspecifiedMatching +OMIM:608707 CDON skos:exactMatch hgnc.symbol:CDON semapv:UnspecifiedMatching OMIM:608707 CDON skos:exactMatch ncbigene:50937 semapv:UnspecifiedMatching -OMIM:608708 BOC skos:exactMatch hgnc:BOC semapv:UnspecifiedMatching +OMIM:608708 BOC skos:exactMatch hgnc.symbol:17173 semapv:UnspecifiedMatching +OMIM:608708 BOC skos:exactMatch hgnc.symbol:BOC semapv:UnspecifiedMatching OMIM:608708 BOC skos:exactMatch ncbigene:91653 semapv:UnspecifiedMatching -OMIM:608711 CTDSP2 skos:exactMatch hgnc:CTDSP2 semapv:UnspecifiedMatching +OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:17077 semapv:UnspecifiedMatching +OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:CTDSP2 semapv:UnspecifiedMatching OMIM:608711 CTDSP2 skos:exactMatch ncbigene:10106 semapv:UnspecifiedMatching OMIM:608712 PTPRT skos:exactMatch UMLS:C1335289 semapv:UnspecifiedMatching OMIM:608712 PTPRT skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608712 PTPRT skos:exactMatch hgnc:PTPRT semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:9682 semapv:UnspecifiedMatching +OMIM:608712 PTPRT skos:exactMatch hgnc.symbol:PTPRT semapv:UnspecifiedMatching OMIM:608712 PTPRT skos:exactMatch ncbigene:11122 semapv:UnspecifiedMatching OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1427014 semapv:UnspecifiedMatching OMIM:608713 CYP2R1 skos:exactMatch UMLS:C1838657 semapv:UnspecifiedMatching -OMIM:608713 CYP2R1 skos:exactMatch hgnc:CYP2R1 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch hgnc.symbol:20580 semapv:UnspecifiedMatching +OMIM:608713 CYP2R1 skos:exactMatch hgnc.symbol:CYP2R1 semapv:UnspecifiedMatching OMIM:608713 CYP2R1 skos:exactMatch ncbigene:120227 semapv:UnspecifiedMatching -OMIM:608714 SNTG1 skos:exactMatch hgnc:SNTG1 semapv:UnspecifiedMatching +OMIM:608714 SNTG1 skos:exactMatch hgnc.symbol:13740 semapv:UnspecifiedMatching +OMIM:608714 SNTG1 skos:exactMatch hgnc.symbol:SNTG1 semapv:UnspecifiedMatching OMIM:608714 SNTG1 skos:exactMatch ncbigene:54212 semapv:UnspecifiedMatching -OMIM:608715 SNTG2 skos:exactMatch hgnc:SNTG2 semapv:UnspecifiedMatching +OMIM:608715 SNTG2 skos:exactMatch hgnc.symbol:13741 semapv:UnspecifiedMatching +OMIM:608715 SNTG2 skos:exactMatch hgnc.symbol:SNTG2 semapv:UnspecifiedMatching OMIM:608715 SNTG2 skos:exactMatch ncbigene:54221 semapv:UnspecifiedMatching -OMIM:608717 LGALS13 skos:exactMatch hgnc:LGALS13 semapv:UnspecifiedMatching +OMIM:608717 LGALS13 skos:exactMatch hgnc.symbol:15449 semapv:UnspecifiedMatching +OMIM:608717 LGALS13 skos:exactMatch hgnc.symbol:LGALS13 semapv:UnspecifiedMatching OMIM:608717 LGALS13 skos:exactMatch ncbigene:29124 semapv:UnspecifiedMatching -OMIM:608718 KRTAP13-1 skos:exactMatch hgnc:KRTAP13-1 semapv:UnspecifiedMatching +OMIM:608718 KRTAP13-1 skos:exactMatch hgnc.symbol:18924 semapv:UnspecifiedMatching +OMIM:608718 KRTAP13-1 skos:exactMatch hgnc.symbol:KRTAP13-1 semapv:UnspecifiedMatching OMIM:608718 KRTAP13-1 skos:exactMatch ncbigene:140258 semapv:UnspecifiedMatching -OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc:NR2C2AP semapv:UnspecifiedMatching +OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:30763 semapv:UnspecifiedMatching +OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch hgnc.symbol:NR2C2AP semapv:UnspecifiedMatching OMIM:608719 tr4-associated protein, 16-kd skos:exactMatch ncbigene:126382 semapv:UnspecifiedMatching -OMIM:608721 CAMK2N2 skos:exactMatch hgnc:CAMK2N2 semapv:UnspecifiedMatching +OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:24197 semapv:UnspecifiedMatching +OMIM:608721 CAMK2N2 skos:exactMatch hgnc.symbol:CAMK2N2 semapv:UnspecifiedMatching OMIM:608721 CAMK2N2 skos:exactMatch ncbigene:94032 semapv:UnspecifiedMatching -OMIM:608722 CAPZA3 skos:exactMatch hgnc:CAPZA3 semapv:UnspecifiedMatching +OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:24205 semapv:UnspecifiedMatching +OMIM:608722 CAPZA3 skos:exactMatch hgnc.symbol:CAPZA3 semapv:UnspecifiedMatching OMIM:608722 CAPZA3 skos:exactMatch ncbigene:93661 semapv:UnspecifiedMatching OMIM:608723 PHACTR1 skos:exactMatch UMLS:C1538627 semapv:UnspecifiedMatching OMIM:608723 PHACTR1 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching -OMIM:608723 PHACTR1 skos:exactMatch hgnc:PHACTR1 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:20990 semapv:UnspecifiedMatching +OMIM:608723 PHACTR1 skos:exactMatch hgnc.symbol:PHACTR1 semapv:UnspecifiedMatching OMIM:608723 PHACTR1 skos:exactMatch ncbigene:221692 semapv:UnspecifiedMatching -OMIM:608724 PHACTR2 skos:exactMatch hgnc:PHACTR2 semapv:UnspecifiedMatching +OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:20956 semapv:UnspecifiedMatching +OMIM:608724 PHACTR2 skos:exactMatch hgnc.symbol:PHACTR2 semapv:UnspecifiedMatching OMIM:608724 PHACTR2 skos:exactMatch ncbigene:9749 semapv:UnspecifiedMatching -OMIM:608725 PHACTR3 skos:exactMatch hgnc:PHACTR3 semapv:UnspecifiedMatching +OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:15833 semapv:UnspecifiedMatching +OMIM:608725 PHACTR3 skos:exactMatch hgnc.symbol:PHACTR3 semapv:UnspecifiedMatching OMIM:608725 PHACTR3 skos:exactMatch ncbigene:116154 semapv:UnspecifiedMatching -OMIM:608726 PHACTR4 skos:exactMatch hgnc:PHACTR4 semapv:UnspecifiedMatching +OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:25793 semapv:UnspecifiedMatching +OMIM:608726 PHACTR4 skos:exactMatch hgnc.symbol:PHACTR4 semapv:UnspecifiedMatching OMIM:608726 PHACTR4 skos:exactMatch ncbigene:65979 semapv:UnspecifiedMatching OMIM:608727 DET1 skos:exactMatch UMLS:C1539273 semapv:UnspecifiedMatching -OMIM:608727 DET1 skos:exactMatch hgnc:DET1 semapv:UnspecifiedMatching +OMIM:608727 DET1 skos:exactMatch hgnc.symbol:25477 semapv:UnspecifiedMatching +OMIM:608727 DET1 skos:exactMatch hgnc.symbol:DET1 semapv:UnspecifiedMatching OMIM:608727 DET1 skos:exactMatch ncbigene:55070 semapv:UnspecifiedMatching +OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch Orphanet:156728 semapv:UnspecifiedMatching OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch UMLS:C1837481 semapv:UnspecifiedMatching -OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia skos:exactMatch orphanet.ordo:156728 semapv:UnspecifiedMatching -OMIM:608729 AGTRAP skos:exactMatch hgnc:AGTRAP semapv:UnspecifiedMatching +OMIM:608729 AGTRAP skos:exactMatch hgnc.symbol:13539 semapv:UnspecifiedMatching +OMIM:608729 AGTRAP skos:exactMatch hgnc.symbol:AGTRAP semapv:UnspecifiedMatching OMIM:608729 AGTRAP skos:exactMatch ncbigene:57085 semapv:UnspecifiedMatching -OMIM:608730 SLC39A5 skos:exactMatch hgnc:SLC39A5 semapv:UnspecifiedMatching +OMIM:608730 SLC39A5 skos:exactMatch hgnc.symbol:20502 semapv:UnspecifiedMatching +OMIM:608730 SLC39A5 skos:exactMatch hgnc.symbol:SLC39A5 semapv:UnspecifiedMatching OMIM:608730 SLC39A5 skos:exactMatch ncbigene:283375 semapv:UnspecifiedMatching -OMIM:608731 SLC39A6 skos:exactMatch hgnc:SLC39A6 semapv:UnspecifiedMatching +OMIM:608731 SLC39A6 skos:exactMatch hgnc.symbol:18607 semapv:UnspecifiedMatching +OMIM:608731 SLC39A6 skos:exactMatch hgnc.symbol:SLC39A6 semapv:UnspecifiedMatching OMIM:608731 SLC39A6 skos:exactMatch ncbigene:25800 semapv:UnspecifiedMatching -OMIM:608732 SLC39A8 skos:exactMatch hgnc:SLC39A8 semapv:UnspecifiedMatching +OMIM:608732 SLC39A8 skos:exactMatch hgnc.symbol:20862 semapv:UnspecifiedMatching +OMIM:608732 SLC39A8 skos:exactMatch hgnc.symbol:SLC39A8 semapv:UnspecifiedMatching OMIM:608732 SLC39A8 skos:exactMatch ncbigene:64116 semapv:UnspecifiedMatching -OMIM:608733 SLC39A10 skos:exactMatch hgnc:SLC39A10 semapv:UnspecifiedMatching +OMIM:608733 SLC39A10 skos:exactMatch hgnc.symbol:20861 semapv:UnspecifiedMatching +OMIM:608733 SLC39A10 skos:exactMatch hgnc.symbol:SLC39A10 semapv:UnspecifiedMatching OMIM:608733 SLC39A10 skos:exactMatch ncbigene:57181 semapv:UnspecifiedMatching -OMIM:608734 SLC39A12 skos:exactMatch hgnc:SLC39A12 semapv:UnspecifiedMatching +OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:20860 semapv:UnspecifiedMatching +OMIM:608734 SLC39A12 skos:exactMatch hgnc.symbol:SLC39A12 semapv:UnspecifiedMatching OMIM:608734 SLC39A12 skos:exactMatch ncbigene:221074 semapv:UnspecifiedMatching -OMIM:608735 SLC39A13 skos:exactMatch hgnc:SLC39A13 semapv:UnspecifiedMatching +OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:20859 semapv:UnspecifiedMatching +OMIM:608735 SLC39A13 skos:exactMatch hgnc.symbol:SLC39A13 semapv:UnspecifiedMatching OMIM:608735 SLC39A13 skos:exactMatch ncbigene:91252 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1427165 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch UMLS:C1840404 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching -OMIM:608736 SLC39A14 skos:exactMatch hgnc:SLC39A14 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:20858 semapv:UnspecifiedMatching +OMIM:608736 SLC39A14 skos:exactMatch hgnc.symbol:SLC39A14 semapv:UnspecifiedMatching OMIM:608736 SLC39A14 skos:exactMatch ncbigene:23516 semapv:UnspecifiedMatching -OMIM:608737 RAB11FIP1 skos:exactMatch hgnc:RAB11FIP1 semapv:UnspecifiedMatching +OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:30265 semapv:UnspecifiedMatching +OMIM:608737 RAB11FIP1 skos:exactMatch hgnc.symbol:RAB11FIP1 semapv:UnspecifiedMatching OMIM:608737 RAB11FIP1 skos:exactMatch ncbigene:80223 semapv:UnspecifiedMatching -OMIM:608738 RAB11FIP3 skos:exactMatch hgnc:RAB11FIP3 semapv:UnspecifiedMatching +OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:17224 semapv:UnspecifiedMatching +OMIM:608738 RAB11FIP3 skos:exactMatch hgnc.symbol:RAB11FIP3 semapv:UnspecifiedMatching OMIM:608738 RAB11FIP3 skos:exactMatch ncbigene:9727 semapv:UnspecifiedMatching -OMIM:608739 ERI1 skos:exactMatch hgnc:ERI1 semapv:UnspecifiedMatching +OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:23994 semapv:UnspecifiedMatching +OMIM:608739 ERI1 skos:exactMatch hgnc.symbol:ERI1 semapv:UnspecifiedMatching OMIM:608739 ERI1 skos:exactMatch ncbigene:90459 semapv:UnspecifiedMatching -OMIM:608740 NFAM1 skos:exactMatch hgnc:NFAM1 semapv:UnspecifiedMatching +OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:29872 semapv:UnspecifiedMatching +OMIM:608740 NFAM1 skos:exactMatch hgnc.symbol:NFAM1 semapv:UnspecifiedMatching OMIM:608740 NFAM1 skos:exactMatch ncbigene:150372 semapv:UnspecifiedMatching -OMIM:608741 SYT11 skos:exactMatch hgnc:SYT11 semapv:UnspecifiedMatching +OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:19239 semapv:UnspecifiedMatching +OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:SYT11 semapv:UnspecifiedMatching OMIM:608741 SYT11 skos:exactMatch ncbigene:23208 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch UMLS:C1825641 semapv:UnspecifiedMatching -OMIM:608743 JSRP1 skos:exactMatch hgnc:JSRP1 semapv:UnspecifiedMatching +OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:24963 semapv:UnspecifiedMatching +OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:JSRP1 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch ncbigene:126306 semapv:UnspecifiedMatching -OMIM:608744 SLC25A24 skos:exactMatch hgnc:SLC25A24 semapv:UnspecifiedMatching +OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:20662 semapv:UnspecifiedMatching +OMIM:608744 SLC25A24 skos:exactMatch hgnc.symbol:SLC25A24 semapv:UnspecifiedMatching OMIM:608744 SLC25A24 skos:exactMatch ncbigene:29957 semapv:UnspecifiedMatching -OMIM:608745 SLC25A25 skos:exactMatch hgnc:SLC25A25 semapv:UnspecifiedMatching +OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:20663 semapv:UnspecifiedMatching +OMIM:608745 SLC25A25 skos:exactMatch hgnc.symbol:SLC25A25 semapv:UnspecifiedMatching OMIM:608745 SLC25A25 skos:exactMatch ncbigene:114789 semapv:UnspecifiedMatching -OMIM:608746 SLC25A23 skos:exactMatch hgnc:SLC25A23 semapv:UnspecifiedMatching +OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:19375 semapv:UnspecifiedMatching +OMIM:608746 SLC25A23 skos:exactMatch hgnc.symbol:SLC25A23 semapv:UnspecifiedMatching OMIM:608746 SLC25A23 skos:exactMatch ncbigene:79085 semapv:UnspecifiedMatching -OMIM:608748 BMP10 skos:exactMatch hgnc:BMP10 semapv:UnspecifiedMatching +OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:20869 semapv:UnspecifiedMatching +OMIM:608748 BMP10 skos:exactMatch hgnc.symbol:BMP10 semapv:UnspecifiedMatching OMIM:608748 BMP10 skos:exactMatch ncbigene:27302 semapv:UnspecifiedMatching OMIM:608749 BRD4 skos:exactMatch UMLS:C1422073 semapv:UnspecifiedMatching -OMIM:608749 BRD4 skos:exactMatch hgnc:BRD4 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:13575 semapv:UnspecifiedMatching +OMIM:608749 BRD4 skos:exactMatch hgnc.symbol:BRD4 semapv:UnspecifiedMatching OMIM:608749 BRD4 skos:exactMatch ncbigene:23476 semapv:UnspecifiedMatching OMIM:608750 ALG3 skos:exactMatch UMLS:C1427879 semapv:UnspecifiedMatching OMIM:608750 ALG3 skos:exactMatch UMLS:C1832736 semapv:UnspecifiedMatching -OMIM:608750 ALG3 skos:exactMatch hgnc:ALG3 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:23056 semapv:UnspecifiedMatching +OMIM:608750 ALG3 skos:exactMatch hgnc.symbol:ALG3 semapv:UnspecifiedMatching OMIM:608750 ALG3 skos:exactMatch ncbigene:10195 semapv:UnspecifiedMatching -OMIM:608752 C1QTNF5 skos:exactMatch hgnc:C1QTNF5 semapv:UnspecifiedMatching +OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:14344 semapv:UnspecifiedMatching +OMIM:608752 C1QTNF5 skos:exactMatch hgnc.symbol:C1QTNF5 semapv:UnspecifiedMatching OMIM:608752 C1QTNF5 skos:exactMatch ncbigene:114902 semapv:UnspecifiedMatching -OMIM:608753 TSEN2 skos:exactMatch hgnc:TSEN2 semapv:UnspecifiedMatching +OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:28422 semapv:UnspecifiedMatching +OMIM:608753 TSEN2 skos:exactMatch hgnc.symbol:TSEN2 semapv:UnspecifiedMatching OMIM:608753 TSEN2 skos:exactMatch ncbigene:80746 semapv:UnspecifiedMatching -OMIM:608754 TSEN34 skos:exactMatch hgnc:TSEN34 semapv:UnspecifiedMatching +OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:15506 semapv:UnspecifiedMatching +OMIM:608754 TSEN34 skos:exactMatch hgnc.symbol:TSEN34 semapv:UnspecifiedMatching OMIM:608754 TSEN34 skos:exactMatch ncbigene:79042 semapv:UnspecifiedMatching -OMIM:608755 TSEN54 skos:exactMatch hgnc:TSEN54 semapv:UnspecifiedMatching +OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:27561 semapv:UnspecifiedMatching +OMIM:608755 TSEN54 skos:exactMatch hgnc.symbol:TSEN54 semapv:UnspecifiedMatching OMIM:608755 TSEN54 skos:exactMatch ncbigene:283989 semapv:UnspecifiedMatching -OMIM:608756 TSEN15 skos:exactMatch hgnc:TSEN15 semapv:UnspecifiedMatching +OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:16791 semapv:UnspecifiedMatching +OMIM:608756 TSEN15 skos:exactMatch hgnc.symbol:TSEN15 semapv:UnspecifiedMatching OMIM:608756 TSEN15 skos:exactMatch ncbigene:116461 semapv:UnspecifiedMatching -OMIM:608757 CLP1 skos:exactMatch hgnc:CLP1 semapv:UnspecifiedMatching +OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:16999 semapv:UnspecifiedMatching +OMIM:608757 CLP1 skos:exactMatch hgnc.symbol:CLP1 semapv:UnspecifiedMatching OMIM:608757 CLP1 skos:exactMatch ncbigene:10978 semapv:UnspecifiedMatching -OMIM:608759 CYGB skos:exactMatch hgnc:CYGB semapv:UnspecifiedMatching +OMIM:608759 CYGB skos:exactMatch hgnc.symbol:16505 semapv:UnspecifiedMatching +OMIM:608759 CYGB skos:exactMatch hgnc.symbol:CYGB semapv:UnspecifiedMatching OMIM:608759 CYGB skos:exactMatch ncbigene:114757 semapv:UnspecifiedMatching OMIM:608760 ATG7 skos:exactMatch UMLS:C1825498 semapv:UnspecifiedMatching -OMIM:608760 ATG7 skos:exactMatch hgnc:ATG7 semapv:UnspecifiedMatching +OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:16935 semapv:UnspecifiedMatching +OMIM:608760 ATG7 skos:exactMatch hgnc.symbol:ATG7 semapv:UnspecifiedMatching OMIM:608760 ATG7 skos:exactMatch ncbigene:10533 semapv:UnspecifiedMatching -OMIM:608761 SLC5A7 skos:exactMatch hgnc:SLC5A7 semapv:UnspecifiedMatching +OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:14025 semapv:UnspecifiedMatching +OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:SLC5A7 semapv:UnspecifiedMatching OMIM:608761 SLC5A7 skos:exactMatch ncbigene:60482 semapv:UnspecifiedMatching -OMIM:608764 NAMPT skos:exactMatch hgnc:NAMPT semapv:UnspecifiedMatching +OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:30092 semapv:UnspecifiedMatching +OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:NAMPT semapv:UnspecifiedMatching OMIM:608764 NAMPT skos:exactMatch ncbigene:10135 semapv:UnspecifiedMatching -OMIM:608766 LRP1B skos:exactMatch hgnc:LRP1B semapv:UnspecifiedMatching +OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:6693 semapv:UnspecifiedMatching +OMIM:608766 LRP1B skos:exactMatch hgnc.symbol:LRP1B semapv:UnspecifiedMatching OMIM:608766 LRP1B skos:exactMatch ncbigene:53353 semapv:UnspecifiedMatching -OMIM:608767 FEM1C skos:exactMatch hgnc:FEM1C semapv:UnspecifiedMatching +OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:16933 semapv:UnspecifiedMatching +OMIM:608767 FEM1C skos:exactMatch hgnc.symbol:FEM1C semapv:UnspecifiedMatching OMIM:608767 FEM1C skos:exactMatch ncbigene:56929 semapv:UnspecifiedMatching -OMIM:608769 PDHX skos:exactMatch hgnc:PDHX semapv:UnspecifiedMatching +OMIM:608769 PDHX skos:exactMatch hgnc.symbol:21350 semapv:UnspecifiedMatching +OMIM:608769 PDHX skos:exactMatch hgnc.symbol:PDHX semapv:UnspecifiedMatching OMIM:608769 PDHX skos:exactMatch ncbigene:8050 semapv:UnspecifiedMatching -OMIM:608770 DLAT skos:exactMatch hgnc:DLAT semapv:UnspecifiedMatching +OMIM:608770 DLAT skos:exactMatch hgnc.symbol:2896 semapv:UnspecifiedMatching +OMIM:608770 DLAT skos:exactMatch hgnc.symbol:DLAT semapv:UnspecifiedMatching OMIM:608770 DLAT skos:exactMatch ncbigene:1737 semapv:UnspecifiedMatching -OMIM:608771 MED13L skos:exactMatch hgnc:MED13L semapv:UnspecifiedMatching +OMIM:608771 MED13L skos:exactMatch hgnc.symbol:22962 semapv:UnspecifiedMatching +OMIM:608771 MED13L skos:exactMatch hgnc.symbol:MED13L semapv:UnspecifiedMatching OMIM:608771 MED13L skos:exactMatch ncbigene:23389 semapv:UnspecifiedMatching -OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc:MIIP semapv:UnspecifiedMatching +OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:25715 semapv:UnspecifiedMatching +OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch hgnc.symbol:MIIP semapv:UnspecifiedMatching OMIM:608772 invasion inhibitory protein, 45-kd skos:exactMatch ncbigene:60672 semapv:UnspecifiedMatching -OMIM:608773 TPPP skos:exactMatch hgnc:TPPP semapv:UnspecifiedMatching +OMIM:608773 TPPP skos:exactMatch hgnc.symbol:24164 semapv:UnspecifiedMatching +OMIM:608773 TPPP skos:exactMatch hgnc.symbol:TPPP semapv:UnspecifiedMatching OMIM:608773 TPPP skos:exactMatch ncbigene:11076 semapv:UnspecifiedMatching -OMIM:608774 ANKK1 skos:exactMatch hgnc:ANKK1 semapv:UnspecifiedMatching +OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:21027 semapv:UnspecifiedMatching +OMIM:608774 ANKK1 skos:exactMatch hgnc.symbol:ANKK1 semapv:UnspecifiedMatching OMIM:608774 ANKK1 skos:exactMatch ncbigene:255239 semapv:UnspecifiedMatching -OMIM:608775 HAUS1 skos:exactMatch hgnc:HAUS1 semapv:UnspecifiedMatching +OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:25174 semapv:UnspecifiedMatching +OMIM:608775 HAUS1 skos:exactMatch hgnc.symbol:HAUS1 semapv:UnspecifiedMatching OMIM:608775 HAUS1 skos:exactMatch ncbigene:115106 semapv:UnspecifiedMatching -OMIM:608777 POSTN skos:exactMatch hgnc:POSTN semapv:UnspecifiedMatching +OMIM:608777 POSTN skos:exactMatch hgnc.symbol:16953 semapv:UnspecifiedMatching +OMIM:608777 POSTN skos:exactMatch hgnc.symbol:POSTN semapv:UnspecifiedMatching OMIM:608777 POSTN skos:exactMatch ncbigene:10631 semapv:UnspecifiedMatching -OMIM:608778 KLHL10 skos:exactMatch hgnc:KLHL10 semapv:UnspecifiedMatching +OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:18829 semapv:UnspecifiedMatching +OMIM:608778 KLHL10 skos:exactMatch hgnc.symbol:KLHL10 semapv:UnspecifiedMatching OMIM:608778 KLHL10 skos:exactMatch ncbigene:317719 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch UMLS:C1539623 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching -OMIM:608780 GTF2H5 skos:exactMatch hgnc:GTF2H5 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:21157 semapv:UnspecifiedMatching +OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:GTF2H5 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch ncbigene:404672 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching +OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch UMLS:C1837429 semapv:UnspecifiedMatching -OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch orphanet.ordo:765 semapv:UnspecifiedMatching -OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch orphanet.ordo:79246 semapv:UnspecifiedMatching -OMIM:608783 SMYD3 skos:exactMatch hgnc:SMYD3 semapv:UnspecifiedMatching +OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:15513 semapv:UnspecifiedMatching +OMIM:608783 SMYD3 skos:exactMatch hgnc.symbol:SMYD3 semapv:UnspecifiedMatching OMIM:608783 SMYD3 skos:exactMatch ncbigene:64754 semapv:UnspecifiedMatching -OMIM:608784 ZDHHC8 skos:exactMatch hgnc:ZDHHC8 semapv:UnspecifiedMatching +OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:18474 semapv:UnspecifiedMatching +OMIM:608784 ZDHHC8 skos:exactMatch hgnc.symbol:ZDHHC8 semapv:UnspecifiedMatching OMIM:608784 ZDHHC8 skos:exactMatch ncbigene:29801 semapv:UnspecifiedMatching -OMIM:608785 HTRA3 skos:exactMatch hgnc:HTRA3 semapv:UnspecifiedMatching +OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:30406 semapv:UnspecifiedMatching +OMIM:608785 HTRA3 skos:exactMatch hgnc.symbol:HTRA3 semapv:UnspecifiedMatching OMIM:608785 HTRA3 skos:exactMatch ncbigene:94031 semapv:UnspecifiedMatching -OMIM:608786 PC skos:exactMatch hgnc:PC semapv:UnspecifiedMatching +OMIM:608786 PC skos:exactMatch hgnc.symbol:8636 semapv:UnspecifiedMatching +OMIM:608786 PC skos:exactMatch hgnc.symbol:PC semapv:UnspecifiedMatching OMIM:608786 PC skos:exactMatch ncbigene:5091 semapv:UnspecifiedMatching -OMIM:608788 SOCS7 skos:exactMatch hgnc:SOCS7 semapv:UnspecifiedMatching +OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:29846 semapv:UnspecifiedMatching +OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:SOCS7 semapv:UnspecifiedMatching OMIM:608788 SOCS7 skos:exactMatch ncbigene:30837 semapv:UnspecifiedMatching -OMIM:608789 NCKAP5 skos:exactMatch hgnc:NCKAP5 semapv:UnspecifiedMatching +OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:29847 semapv:UnspecifiedMatching +OMIM:608789 NCKAP5 skos:exactMatch hgnc.symbol:NCKAP5 semapv:UnspecifiedMatching OMIM:608789 NCKAP5 skos:exactMatch ncbigene:344148 semapv:UnspecifiedMatching -OMIM:608790 TADA2B skos:exactMatch hgnc:TADA2B semapv:UnspecifiedMatching +OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:30781 semapv:UnspecifiedMatching +OMIM:608790 TADA2B skos:exactMatch hgnc.symbol:TADA2B semapv:UnspecifiedMatching OMIM:608790 TADA2B skos:exactMatch ncbigene:93624 semapv:UnspecifiedMatching -OMIM:608791 NXNL1 skos:exactMatch hgnc:NXNL1 semapv:UnspecifiedMatching +OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:25179 semapv:UnspecifiedMatching +OMIM:608791 NXNL1 skos:exactMatch hgnc.symbol:NXNL1 semapv:UnspecifiedMatching OMIM:608791 NXNL1 skos:exactMatch ncbigene:115861 semapv:UnspecifiedMatching OMIM:608792 GIPC3 skos:exactMatch UMLS:C1825353 semapv:UnspecifiedMatching OMIM:608792 GIPC3 skos:exactMatch UMLS:C1866094 semapv:UnspecifiedMatching -OMIM:608792 GIPC3 skos:exactMatch hgnc:GIPC3 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:18183 semapv:UnspecifiedMatching +OMIM:608792 GIPC3 skos:exactMatch hgnc.symbol:GIPC3 semapv:UnspecifiedMatching OMIM:608792 GIPC3 skos:exactMatch ncbigene:126326 semapv:UnspecifiedMatching -OMIM:608793 SPECC1 skos:exactMatch hgnc:SPECC1 semapv:UnspecifiedMatching +OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:30615 semapv:UnspecifiedMatching +OMIM:608793 SPECC1 skos:exactMatch hgnc.symbol:SPECC1 semapv:UnspecifiedMatching OMIM:608793 SPECC1 skos:exactMatch ncbigene:92521 semapv:UnspecifiedMatching -OMIM:608794 PITPNM1 skos:exactMatch hgnc:PITPNM1 semapv:UnspecifiedMatching +OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:9003 semapv:UnspecifiedMatching +OMIM:608794 PITPNM1 skos:exactMatch hgnc.symbol:PITPNM1 semapv:UnspecifiedMatching OMIM:608794 PITPNM1 skos:exactMatch ncbigene:9600 semapv:UnspecifiedMatching -OMIM:608795 PLCD3 skos:exactMatch hgnc:PLCD3 semapv:UnspecifiedMatching +OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:9061 semapv:UnspecifiedMatching +OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:PLCD3 semapv:UnspecifiedMatching OMIM:608795 PLCD3 skos:exactMatch ncbigene:113026 semapv:UnspecifiedMatching -OMIM:608797 MEI1 skos:exactMatch hgnc:MEI1 semapv:UnspecifiedMatching +OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:28613 semapv:UnspecifiedMatching +OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:MEI1 semapv:UnspecifiedMatching OMIM:608797 MEI1 skos:exactMatch ncbigene:150365 semapv:UnspecifiedMatching OMIM:608798 GSDME skos:exactMatch UMLS:C1414006 semapv:UnspecifiedMatching OMIM:608798 GSDME skos:exactMatch UMLS:C1832932 semapv:UnspecifiedMatching -OMIM:608798 GSDME skos:exactMatch hgnc:GSDME semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch hgnc.symbol:2810 semapv:UnspecifiedMatching +OMIM:608798 GSDME skos:exactMatch hgnc.symbol:GSDME semapv:UnspecifiedMatching OMIM:608798 GSDME skos:exactMatch ncbigene:1687 semapv:UnspecifiedMatching -OMIM:608801 GCDH skos:exactMatch hgnc:GCDH semapv:UnspecifiedMatching +OMIM:608801 GCDH skos:exactMatch hgnc.symbol:4189 semapv:UnspecifiedMatching +OMIM:608801 GCDH skos:exactMatch hgnc.symbol:GCDH semapv:UnspecifiedMatching OMIM:608801 GCDH skos:exactMatch ncbigene:2639 semapv:UnspecifiedMatching OMIM:608802 L3MBTL1 skos:exactMatch UMLS:C1423822 semapv:UnspecifiedMatching -OMIM:608802 L3MBTL1 skos:exactMatch hgnc:L3MBTL1 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:15905 semapv:UnspecifiedMatching +OMIM:608802 L3MBTL1 skos:exactMatch hgnc.symbol:L3MBTL1 semapv:UnspecifiedMatching OMIM:608802 L3MBTL1 skos:exactMatch ncbigene:26013 semapv:UnspecifiedMatching -OMIM:608803 GJC2 skos:exactMatch hgnc:GJC2 semapv:UnspecifiedMatching +OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:17494 semapv:UnspecifiedMatching +OMIM:608803 GJC2 skos:exactMatch hgnc.symbol:GJC2 semapv:UnspecifiedMatching OMIM:608803 GJC2 skos:exactMatch ncbigene:57165 semapv:UnspecifiedMatching OMIM:608806 NAALADL2 skos:exactMatch UMLS:C1826340 semapv:UnspecifiedMatching -OMIM:608806 NAALADL2 skos:exactMatch hgnc:NAALADL2 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:23219 semapv:UnspecifiedMatching +OMIM:608806 NAALADL2 skos:exactMatch hgnc.symbol:NAALADL2 semapv:UnspecifiedMatching OMIM:608806 NAALADL2 skos:exactMatch ncbigene:254827 semapv:UnspecifiedMatching +OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch Orphanet:399058 semapv:UnspecifiedMatching OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch UMLS:C1837317 semapv:UnspecifiedMatching -OMIM:608810 myopathy, myofibrillar, 2 skos:exactMatch orphanet.ordo:399058 semapv:UnspecifiedMatching -OMIM:608813 DERL1 skos:exactMatch hgnc:DERL1 semapv:UnspecifiedMatching +OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:28454 semapv:UnspecifiedMatching +OMIM:608813 DERL1 skos:exactMatch hgnc.symbol:DERL1 semapv:UnspecifiedMatching OMIM:608813 DERL1 skos:exactMatch ncbigene:79139 semapv:UnspecifiedMatching -OMIM:608815 EFHC1 skos:exactMatch hgnc:EFHC1 semapv:UnspecifiedMatching +OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:16406 semapv:UnspecifiedMatching +OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:EFHC1 semapv:UnspecifiedMatching OMIM:608815 EFHC1 skos:exactMatch ncbigene:114327 semapv:UnspecifiedMatching -OMIM:608817 LRRC4C skos:exactMatch hgnc:LRRC4C semapv:UnspecifiedMatching +OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:29317 semapv:UnspecifiedMatching +OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:LRRC4C semapv:UnspecifiedMatching OMIM:608817 LRRC4C skos:exactMatch ncbigene:57689 semapv:UnspecifiedMatching -OMIM:608818 NTNG1 skos:exactMatch hgnc:NTNG1 semapv:UnspecifiedMatching +OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:23319 semapv:UnspecifiedMatching +OMIM:608818 NTNG1 skos:exactMatch hgnc.symbol:NTNG1 semapv:UnspecifiedMatching OMIM:608818 NTNG1 skos:exactMatch ncbigene:22854 semapv:UnspecifiedMatching -OMIM:608819 KRTAP1-1 skos:exactMatch hgnc:KRTAP1-1 semapv:UnspecifiedMatching +OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:16772 semapv:UnspecifiedMatching +OMIM:608819 KRTAP1-1 skos:exactMatch hgnc.symbol:KRTAP1-1 semapv:UnspecifiedMatching OMIM:608819 KRTAP1-1 skos:exactMatch ncbigene:81851 semapv:UnspecifiedMatching -OMIM:608820 KRTAP1-3 skos:exactMatch hgnc:KRTAP1-3 semapv:UnspecifiedMatching +OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:16771 semapv:UnspecifiedMatching +OMIM:608820 KRTAP1-3 skos:exactMatch hgnc.symbol:KRTAP1-3 semapv:UnspecifiedMatching OMIM:608820 KRTAP1-3 skos:exactMatch ncbigene:81850 semapv:UnspecifiedMatching -OMIM:608821 KRTAP1-4 skos:exactMatch hgnc:KRTAP1-4 semapv:UnspecifiedMatching +OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:18904 semapv:UnspecifiedMatching +OMIM:608821 KRTAP1-4 skos:exactMatch hgnc.symbol:KRTAP1-4 semapv:UnspecifiedMatching OMIM:608821 KRTAP1-4 skos:exactMatch ncbigene:728255 semapv:UnspecifiedMatching -OMIM:608822 KRTAP1-5 skos:exactMatch hgnc:KRTAP1-5 semapv:UnspecifiedMatching +OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:16777 semapv:UnspecifiedMatching +OMIM:608822 KRTAP1-5 skos:exactMatch hgnc.symbol:KRTAP1-5 semapv:UnspecifiedMatching OMIM:608822 KRTAP1-5 skos:exactMatch ncbigene:83895 semapv:UnspecifiedMatching -OMIM:608823 CGB1 skos:exactMatch hgnc:CGB1 semapv:UnspecifiedMatching +OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:16721 semapv:UnspecifiedMatching +OMIM:608823 CGB1 skos:exactMatch hgnc.symbol:CGB1 semapv:UnspecifiedMatching OMIM:608823 CGB1 skos:exactMatch ncbigene:114335 semapv:UnspecifiedMatching -OMIM:608824 CGB2 skos:exactMatch hgnc:CGB2 semapv:UnspecifiedMatching +OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:16722 semapv:UnspecifiedMatching +OMIM:608824 CGB2 skos:exactMatch hgnc.symbol:CGB2 semapv:UnspecifiedMatching OMIM:608824 CGB2 skos:exactMatch ncbigene:114336 semapv:UnspecifiedMatching -OMIM:608825 CGB5 skos:exactMatch hgnc:CGB5 semapv:UnspecifiedMatching +OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:16452 semapv:UnspecifiedMatching +OMIM:608825 CGB5 skos:exactMatch hgnc.symbol:CGB5 semapv:UnspecifiedMatching OMIM:608825 CGB5 skos:exactMatch ncbigene:93659 semapv:UnspecifiedMatching -OMIM:608826 CGB7 skos:exactMatch hgnc:CGB7 semapv:UnspecifiedMatching +OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:16451 semapv:UnspecifiedMatching +OMIM:608826 CGB7 skos:exactMatch hgnc.symbol:CGB7 semapv:UnspecifiedMatching OMIM:608826 CGB7 skos:exactMatch ncbigene:94027 semapv:UnspecifiedMatching -OMIM:608827 CGB8 skos:exactMatch hgnc:CGB8 semapv:UnspecifiedMatching +OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:16453 semapv:UnspecifiedMatching +OMIM:608827 CGB8 skos:exactMatch hgnc.symbol:CGB8 semapv:UnspecifiedMatching OMIM:608827 CGB8 skos:exactMatch ncbigene:94115 semapv:UnspecifiedMatching -OMIM:608828 DROSHA skos:exactMatch hgnc:DROSHA semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:17904 semapv:UnspecifiedMatching +OMIM:608828 DROSHA skos:exactMatch hgnc.symbol:DROSHA semapv:UnspecifiedMatching OMIM:608828 DROSHA skos:exactMatch ncbigene:29102 semapv:UnspecifiedMatching OMIM:608829 SUMO4 skos:exactMatch UMLS:C1539897 semapv:UnspecifiedMatching OMIM:608829 SUMO4 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching -OMIM:608829 SUMO4 skos:exactMatch hgnc:SUMO4 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:21181 semapv:UnspecifiedMatching +OMIM:608829 SUMO4 skos:exactMatch hgnc.symbol:SUMO4 semapv:UnspecifiedMatching OMIM:608829 SUMO4 skos:exactMatch ncbigene:387082 semapv:UnspecifiedMatching -OMIM:608830 RDH12 skos:exactMatch hgnc:RDH12 semapv:UnspecifiedMatching +OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:19977 semapv:UnspecifiedMatching +OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:RDH12 semapv:UnspecifiedMatching OMIM:608830 RDH12 skos:exactMatch ncbigene:145226 semapv:UnspecifiedMatching OMIM:608832 GREM2 skos:exactMatch UMLS:C1539615 semapv:UnspecifiedMatching OMIM:608832 GREM2 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching -OMIM:608832 GREM2 skos:exactMatch hgnc:GREM2 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:17655 semapv:UnspecifiedMatching +OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:GREM2 semapv:UnspecifiedMatching OMIM:608832 GREM2 skos:exactMatch ncbigene:64388 semapv:UnspecifiedMatching -OMIM:608833 RTEL1 skos:exactMatch hgnc:RTEL1 semapv:UnspecifiedMatching +OMIM:608833 RTEL1 skos:exactMatch hgnc.symbol:15888 semapv:UnspecifiedMatching +OMIM:608833 RTEL1 skos:exactMatch hgnc.symbol:RTEL1 semapv:UnspecifiedMatching OMIM:608833 RTEL1 skos:exactMatch ncbigene:51750 semapv:UnspecifiedMatching -OMIM:608834 CREB3L2 skos:exactMatch hgnc:CREB3L2 semapv:UnspecifiedMatching +OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:23720 semapv:UnspecifiedMatching +OMIM:608834 CREB3L2 skos:exactMatch hgnc.symbol:CREB3L2 semapv:UnspecifiedMatching OMIM:608834 CREB3L2 skos:exactMatch ncbigene:64764 semapv:UnspecifiedMatching -OMIM:608835 ABCC13 skos:exactMatch hgnc:ABCC13 semapv:UnspecifiedMatching +OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:16022 semapv:UnspecifiedMatching +OMIM:608835 ABCC13 skos:exactMatch hgnc.symbol:ABCC13 semapv:UnspecifiedMatching OMIM:608835 ABCC13 skos:exactMatch ncbigene:150000 semapv:UnspecifiedMatching -OMIM:608838 VKORC1L1 skos:exactMatch hgnc:VKORC1L1 semapv:UnspecifiedMatching +OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:21492 semapv:UnspecifiedMatching +OMIM:608838 VKORC1L1 skos:exactMatch hgnc.symbol:VKORC1L1 semapv:UnspecifiedMatching OMIM:608838 VKORC1L1 skos:exactMatch ncbigene:154807 semapv:UnspecifiedMatching -OMIM:608839 CAPN12 skos:exactMatch hgnc:CAPN12 semapv:UnspecifiedMatching +OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:13249 semapv:UnspecifiedMatching +OMIM:608839 CAPN12 skos:exactMatch hgnc.symbol:CAPN12 semapv:UnspecifiedMatching OMIM:608839 CAPN12 skos:exactMatch ncbigene:147968 semapv:UnspecifiedMatching +OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching +OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch Orphanet:98894 semapv:UnspecifiedMatching OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch UMLS:C1837229 semapv:UnspecifiedMatching -OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch orphanet.ordo:370968 semapv:UnspecifiedMatching -OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 skos:exactMatch orphanet.ordo:98894 semapv:UnspecifiedMatching -OMIM:608841 CPAMD8 skos:exactMatch hgnc:CPAMD8 semapv:UnspecifiedMatching +OMIM:608841 CPAMD8 skos:exactMatch hgnc.symbol:23228 semapv:UnspecifiedMatching +OMIM:608841 CPAMD8 skos:exactMatch hgnc.symbol:CPAMD8 semapv:UnspecifiedMatching OMIM:608841 CPAMD8 skos:exactMatch ncbigene:27151 semapv:UnspecifiedMatching -OMIM:608842 CHCHD1 skos:exactMatch hgnc:CHCHD1 semapv:UnspecifiedMatching +OMIM:608842 CHCHD1 skos:exactMatch hgnc.symbol:23518 semapv:UnspecifiedMatching +OMIM:608842 CHCHD1 skos:exactMatch hgnc.symbol:CHCHD1 semapv:UnspecifiedMatching OMIM:608842 CHCHD1 skos:exactMatch ncbigene:118487 semapv:UnspecifiedMatching -OMIM:608843 vasorin skos:exactMatch hgnc:VASN semapv:UnspecifiedMatching +OMIM:608843 vasorin skos:exactMatch hgnc.symbol:18517 semapv:UnspecifiedMatching +OMIM:608843 vasorin skos:exactMatch hgnc.symbol:VASN semapv:UnspecifiedMatching OMIM:608843 vasorin skos:exactMatch ncbigene:114990 semapv:UnspecifiedMatching -OMIM:608844 NEIL1 skos:exactMatch hgnc:NEIL1 semapv:UnspecifiedMatching +OMIM:608844 NEIL1 skos:exactMatch hgnc.symbol:18448 semapv:UnspecifiedMatching +OMIM:608844 NEIL1 skos:exactMatch hgnc.symbol:NEIL1 semapv:UnspecifiedMatching OMIM:608844 NEIL1 skos:exactMatch ncbigene:79661 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch UMLS:C1421880 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch UMLS:C1859564 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch UMLS:C2675305 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching -OMIM:608845 ARL6 skos:exactMatch hgnc:ARL6 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:13210 semapv:UnspecifiedMatching +OMIM:608845 ARL6 skos:exactMatch hgnc.symbol:ARL6 semapv:UnspecifiedMatching OMIM:608845 ARL6 skos:exactMatch ncbigene:84100 semapv:UnspecifiedMatching -OMIM:608846 CPT1C skos:exactMatch hgnc:CPT1C semapv:UnspecifiedMatching +OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:18540 semapv:UnspecifiedMatching +OMIM:608846 CPT1C skos:exactMatch hgnc.symbol:CPT1C semapv:UnspecifiedMatching OMIM:608846 CPT1C skos:exactMatch ncbigene:126129 semapv:UnspecifiedMatching -OMIM:608847 FTMT skos:exactMatch hgnc:FTMT semapv:UnspecifiedMatching +OMIM:608847 FTMT skos:exactMatch hgnc.symbol:17345 semapv:UnspecifiedMatching +OMIM:608847 FTMT skos:exactMatch hgnc.symbol:FTMT semapv:UnspecifiedMatching OMIM:608847 FTMT skos:exactMatch ncbigene:94033 semapv:UnspecifiedMatching -OMIM:608848 FNBP1L skos:exactMatch hgnc:FNBP1L semapv:UnspecifiedMatching +OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:20851 semapv:UnspecifiedMatching +OMIM:608848 FNBP1L skos:exactMatch hgnc.symbol:FNBP1L semapv:UnspecifiedMatching OMIM:608848 FNBP1L skos:exactMatch ncbigene:54874 semapv:UnspecifiedMatching -OMIM:608849 UHMK1 skos:exactMatch hgnc:UHMK1 semapv:UnspecifiedMatching +OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:19683 semapv:UnspecifiedMatching +OMIM:608849 UHMK1 skos:exactMatch hgnc.symbol:UHMK1 semapv:UnspecifiedMatching OMIM:608849 UHMK1 skos:exactMatch ncbigene:127933 semapv:UnspecifiedMatching -OMIM:608851 XRN2 skos:exactMatch hgnc:XRN2 semapv:UnspecifiedMatching +OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:12836 semapv:UnspecifiedMatching +OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:XRN2 semapv:UnspecifiedMatching OMIM:608851 XRN2 skos:exactMatch ncbigene:22803 semapv:UnspecifiedMatching -OMIM:608853 BLID skos:exactMatch hgnc:BLID semapv:UnspecifiedMatching +OMIM:608853 BLID skos:exactMatch hgnc.symbol:33495 semapv:UnspecifiedMatching +OMIM:608853 BLID skos:exactMatch hgnc.symbol:BLID semapv:UnspecifiedMatching OMIM:608853 BLID skos:exactMatch ncbigene:414899 semapv:UnspecifiedMatching -OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc:OSCP1 semapv:UnspecifiedMatching +OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:29971 semapv:UnspecifiedMatching +OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch hgnc.symbol:OSCP1 semapv:UnspecifiedMatching OMIM:608854 oxidored-nitro domain-containing protein 1 skos:exactMatch ncbigene:127700 semapv:UnspecifiedMatching -OMIM:608855 TTYH2 skos:exactMatch hgnc:TTYH2 semapv:UnspecifiedMatching +OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:13877 semapv:UnspecifiedMatching +OMIM:608855 TTYH2 skos:exactMatch hgnc.symbol:TTYH2 semapv:UnspecifiedMatching OMIM:608855 TTYH2 skos:exactMatch ncbigene:94015 semapv:UnspecifiedMatching -OMIM:608856 CTAGE1 skos:exactMatch hgnc:CTAGE1 semapv:UnspecifiedMatching +OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:24346 semapv:UnspecifiedMatching +OMIM:608856 CTAGE1 skos:exactMatch hgnc.symbol:CTAGE1 semapv:UnspecifiedMatching OMIM:608856 CTAGE1 skos:exactMatch ncbigene:64693 semapv:UnspecifiedMatching -OMIM:608857 CTAGE3 skos:exactMatch hgnc:CTAGE3P semapv:UnspecifiedMatching +OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:24348 semapv:UnspecifiedMatching +OMIM:608857 CTAGE3 skos:exactMatch hgnc.symbol:CTAGE3P semapv:UnspecifiedMatching OMIM:608857 CTAGE3 skos:exactMatch ncbigene:220112 semapv:UnspecifiedMatching -OMIM:608858 FGFR1OP2 skos:exactMatch hgnc:FGFR1OP2 semapv:UnspecifiedMatching +OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:23098 semapv:UnspecifiedMatching +OMIM:608858 FGFR1OP2 skos:exactMatch hgnc.symbol:FGFR1OP2 semapv:UnspecifiedMatching OMIM:608858 FGFR1OP2 skos:exactMatch ncbigene:26127 semapv:UnspecifiedMatching -OMIM:608859 CD109 skos:exactMatch hgnc:CD109 semapv:UnspecifiedMatching +OMIM:608859 CD109 skos:exactMatch hgnc.symbol:21685 semapv:UnspecifiedMatching +OMIM:608859 CD109 skos:exactMatch hgnc.symbol:CD109 semapv:UnspecifiedMatching OMIM:608859 CD109 skos:exactMatch ncbigene:135228 semapv:UnspecifiedMatching -OMIM:608860 ASTL skos:exactMatch hgnc:ASTL semapv:UnspecifiedMatching +OMIM:608860 ASTL skos:exactMatch hgnc.symbol:31704 semapv:UnspecifiedMatching +OMIM:608860 ASTL skos:exactMatch hgnc.symbol:ASTL semapv:UnspecifiedMatching OMIM:608860 ASTL skos:exactMatch ncbigene:431705 semapv:UnspecifiedMatching -OMIM:608861 ATP6V1H skos:exactMatch hgnc:ATP6V1H semapv:UnspecifiedMatching +OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:18303 semapv:UnspecifiedMatching +OMIM:608861 ATP6V1H skos:exactMatch hgnc.symbol:ATP6V1H semapv:UnspecifiedMatching OMIM:608861 ATP6V1H skos:exactMatch ncbigene:51606 semapv:UnspecifiedMatching -OMIM:608862 NAXE skos:exactMatch hgnc:NAXE semapv:UnspecifiedMatching +OMIM:608862 NAXE skos:exactMatch hgnc.symbol:18453 semapv:UnspecifiedMatching +OMIM:608862 NAXE skos:exactMatch hgnc.symbol:NAXE semapv:UnspecifiedMatching OMIM:608862 NAXE skos:exactMatch ncbigene:128240 semapv:UnspecifiedMatching -OMIM:608863 PDPN skos:exactMatch hgnc:PDPN semapv:UnspecifiedMatching +OMIM:608863 PDPN skos:exactMatch hgnc.symbol:29602 semapv:UnspecifiedMatching +OMIM:608863 PDPN skos:exactMatch hgnc.symbol:PDPN semapv:UnspecifiedMatching OMIM:608863 PDPN skos:exactMatch ncbigene:10630 semapv:UnspecifiedMatching +OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch UMLS:C1837213 semapv:UnspecifiedMatching -OMIM:608864 orofacial cleft 6, susceptibility to skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching -OMIM:608865 URB1 skos:exactMatch hgnc:URB1 semapv:UnspecifiedMatching +OMIM:608865 URB1 skos:exactMatch hgnc.symbol:17344 semapv:UnspecifiedMatching +OMIM:608865 URB1 skos:exactMatch hgnc.symbol:URB1 semapv:UnspecifiedMatching OMIM:608865 URB1 skos:exactMatch ncbigene:9875 semapv:UnspecifiedMatching -OMIM:608866 FRA10AC1 skos:exactMatch hgnc:FRA10AC1 semapv:UnspecifiedMatching +OMIM:608866 FRA10AC1 skos:exactMatch hgnc.symbol:1162 semapv:UnspecifiedMatching +OMIM:608866 FRA10AC1 skos:exactMatch hgnc.symbol:FRA10AC1 semapv:UnspecifiedMatching OMIM:608866 FRA10AC1 skos:exactMatch ncbigene:118924 semapv:UnspecifiedMatching -OMIM:608867 DUSP10 skos:exactMatch hgnc:DUSP10 semapv:UnspecifiedMatching +OMIM:608867 DUSP10 skos:exactMatch hgnc.symbol:3065 semapv:UnspecifiedMatching +OMIM:608867 DUSP10 skos:exactMatch hgnc.symbol:DUSP10 semapv:UnspecifiedMatching OMIM:608867 DUSP10 skos:exactMatch ncbigene:11221 semapv:UnspecifiedMatching -OMIM:608868 LRIG1 skos:exactMatch hgnc:LRIG1 semapv:UnspecifiedMatching +OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:17360 semapv:UnspecifiedMatching +OMIM:608868 LRIG1 skos:exactMatch hgnc.symbol:LRIG1 semapv:UnspecifiedMatching OMIM:608868 LRIG1 skos:exactMatch ncbigene:26018 semapv:UnspecifiedMatching -OMIM:608869 LRIG2 skos:exactMatch hgnc:LRIG2 semapv:UnspecifiedMatching +OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:20889 semapv:UnspecifiedMatching +OMIM:608869 LRIG2 skos:exactMatch hgnc.symbol:LRIG2 semapv:UnspecifiedMatching OMIM:608869 LRIG2 skos:exactMatch ncbigene:9860 semapv:UnspecifiedMatching -OMIM:608870 LRIG3 skos:exactMatch hgnc:LRIG3 semapv:UnspecifiedMatching +OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:30991 semapv:UnspecifiedMatching +OMIM:608870 LRIG3 skos:exactMatch hgnc.symbol:LRIG3 semapv:UnspecifiedMatching OMIM:608870 LRIG3 skos:exactMatch ncbigene:121227 semapv:UnspecifiedMatching -OMIM:608871 NIPSNAP3A skos:exactMatch hgnc:NIPSNAP3A semapv:UnspecifiedMatching +OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:23619 semapv:UnspecifiedMatching +OMIM:608871 NIPSNAP3A skos:exactMatch hgnc.symbol:NIPSNAP3A semapv:UnspecifiedMatching OMIM:608871 NIPSNAP3A skos:exactMatch ncbigene:25934 semapv:UnspecifiedMatching -OMIM:608872 NIPSNAP3B skos:exactMatch hgnc:NIPSNAP3B semapv:UnspecifiedMatching +OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:23641 semapv:UnspecifiedMatching +OMIM:608872 NIPSNAP3B skos:exactMatch hgnc.symbol:NIPSNAP3B semapv:UnspecifiedMatching OMIM:608872 NIPSNAP3B skos:exactMatch ncbigene:55335 semapv:UnspecifiedMatching OMIM:608873 SEMA6B skos:exactMatch UMLS:C1419957 semapv:UnspecifiedMatching OMIM:608873 SEMA6B skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching -OMIM:608873 SEMA6B skos:exactMatch hgnc:SEMA6B semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:10739 semapv:UnspecifiedMatching +OMIM:608873 SEMA6B skos:exactMatch hgnc.symbol:SEMA6B semapv:UnspecifiedMatching OMIM:608873 SEMA6B skos:exactMatch ncbigene:10501 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:141291 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching +OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:608874 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch orphanet.ordo:141291 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch orphanet.ordo:199302 semapv:UnspecifiedMatching -OMIM:608874 orofacial cleft 5 skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch UMLS:C1826547 semapv:UnspecifiedMatching -OMIM:608876 PCF11 skos:exactMatch hgnc:PCF11 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:30097 semapv:UnspecifiedMatching +OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:PCF11 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch ncbigene:51585 semapv:UnspecifiedMatching -OMIM:608877 VPS13D skos:exactMatch hgnc:VPS13D semapv:UnspecifiedMatching +OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:23595 semapv:UnspecifiedMatching +OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:VPS13D semapv:UnspecifiedMatching OMIM:608877 VPS13D skos:exactMatch ncbigene:55187 semapv:UnspecifiedMatching -OMIM:608879 VPS13C skos:exactMatch hgnc:VPS13C semapv:UnspecifiedMatching +OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:23594 semapv:UnspecifiedMatching +OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:VPS13C semapv:UnspecifiedMatching OMIM:608879 VPS13C skos:exactMatch ncbigene:54832 semapv:UnspecifiedMatching -OMIM:608880 ZFYVE16 skos:exactMatch hgnc:ZFYVE16 semapv:UnspecifiedMatching +OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:20756 semapv:UnspecifiedMatching +OMIM:608880 ZFYVE16 skos:exactMatch hgnc.symbol:ZFYVE16 semapv:UnspecifiedMatching OMIM:608880 ZFYVE16 skos:exactMatch ncbigene:9765 semapv:UnspecifiedMatching -OMIM:608881 MICAL2 skos:exactMatch hgnc:MICAL2 semapv:UnspecifiedMatching +OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:24693 semapv:UnspecifiedMatching +OMIM:608881 MICAL2 skos:exactMatch hgnc.symbol:MICAL2 semapv:UnspecifiedMatching OMIM:608881 MICAL2 skos:exactMatch ncbigene:9645 semapv:UnspecifiedMatching -OMIM:608882 MICAL3 skos:exactMatch hgnc:MICAL3 semapv:UnspecifiedMatching +OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:24694 semapv:UnspecifiedMatching +OMIM:608882 MICAL3 skos:exactMatch hgnc.symbol:MICAL3 semapv:UnspecifiedMatching OMIM:608882 MICAL3 skos:exactMatch ncbigene:57553 semapv:UnspecifiedMatching OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C1425072 semapv:UnspecifiedMatching OMIM:608884 RALGAPA1 skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching -OMIM:608884 RALGAPA1 skos:exactMatch hgnc:RALGAPA1 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:17770 semapv:UnspecifiedMatching +OMIM:608884 RALGAPA1 skos:exactMatch hgnc.symbol:RALGAPA1 semapv:UnspecifiedMatching OMIM:608884 RALGAPA1 skos:exactMatch ncbigene:253959 semapv:UnspecifiedMatching -OMIM:608886 PPARGC1B skos:exactMatch hgnc:PPARGC1B semapv:UnspecifiedMatching +OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:30022 semapv:UnspecifiedMatching +OMIM:608886 PPARGC1B skos:exactMatch hgnc.symbol:PPARGC1B semapv:UnspecifiedMatching OMIM:608886 PPARGC1B skos:exactMatch ncbigene:133522 semapv:UnspecifiedMatching -OMIM:608887 PURB skos:exactMatch hgnc:PURB semapv:UnspecifiedMatching +OMIM:608887 PURB skos:exactMatch hgnc.symbol:9702 semapv:UnspecifiedMatching +OMIM:608887 PURB skos:exactMatch hgnc.symbol:PURB semapv:UnspecifiedMatching OMIM:608887 PURB skos:exactMatch ncbigene:5814 semapv:UnspecifiedMatching -OMIM:608888 RBM45 skos:exactMatch hgnc:RBM45 semapv:UnspecifiedMatching +OMIM:608888 RBM45 skos:exactMatch hgnc.symbol:24468 semapv:UnspecifiedMatching +OMIM:608888 RBM45 skos:exactMatch hgnc.symbol:RBM45 semapv:UnspecifiedMatching OMIM:608888 RBM45 skos:exactMatch ncbigene:129831 semapv:UnspecifiedMatching -OMIM:608889 ACMSD skos:exactMatch hgnc:ACMSD semapv:UnspecifiedMatching +OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:19288 semapv:UnspecifiedMatching +OMIM:608889 ACMSD skos:exactMatch hgnc.symbol:ACMSD semapv:UnspecifiedMatching OMIM:608889 ACMSD skos:exactMatch ncbigene:130013 semapv:UnspecifiedMatching -OMIM:608891 OSR1 skos:exactMatch hgnc:OSR1 semapv:UnspecifiedMatching +OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:8111 semapv:UnspecifiedMatching +OMIM:608891 OSR1 skos:exactMatch hgnc.symbol:OSR1 semapv:UnspecifiedMatching OMIM:608891 OSR1 skos:exactMatch ncbigene:130497 semapv:UnspecifiedMatching -OMIM:608892 CHD7 skos:exactMatch hgnc:CHD7 semapv:UnspecifiedMatching +OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:20626 semapv:UnspecifiedMatching +OMIM:608892 CHD7 skos:exactMatch hgnc.symbol:CHD7 semapv:UnspecifiedMatching OMIM:608892 CHD7 skos:exactMatch ncbigene:55636 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0018609 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C0543541 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C1428660 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch UMLS:C3148959 semapv:UnspecifiedMatching -OMIM:608893 SLC6A19 skos:exactMatch hgnc:SLC6A19 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:27960 semapv:UnspecifiedMatching +OMIM:608893 SLC6A19 skos:exactMatch hgnc.symbol:SLC6A19 semapv:UnspecifiedMatching OMIM:608893 SLC6A19 skos:exactMatch ncbigene:340024 semapv:UnspecifiedMatching -OMIM:608894 AHI1 skos:exactMatch hgnc:AHI1 semapv:UnspecifiedMatching +OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:21575 semapv:UnspecifiedMatching +OMIM:608894 AHI1 skos:exactMatch hgnc.symbol:AHI1 semapv:UnspecifiedMatching OMIM:608894 AHI1 skos:exactMatch ncbigene:54806 semapv:UnspecifiedMatching -OMIM:608896 SGCG skos:exactMatch hgnc:SGCG semapv:UnspecifiedMatching +OMIM:608896 SGCG skos:exactMatch hgnc.symbol:10809 semapv:UnspecifiedMatching +OMIM:608896 SGCG skos:exactMatch hgnc.symbol:SGCG semapv:UnspecifiedMatching OMIM:608896 SGCG skos:exactMatch ncbigene:6445 semapv:UnspecifiedMatching -OMIM:608897 UNC13D skos:exactMatch hgnc:UNC13D semapv:UnspecifiedMatching +OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:23147 semapv:UnspecifiedMatching +OMIM:608897 UNC13D skos:exactMatch hgnc.symbol:UNC13D semapv:UnspecifiedMatching OMIM:608897 UNC13D skos:exactMatch ncbigene:201294 semapv:UnspecifiedMatching +OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch UMLS:C1837174 semapv:UnspecifiedMatching -OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 skos:exactMatch orphanet.ordo:540 semapv:UnspecifiedMatching -OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc:GTF2IRD2 semapv:UnspecifiedMatching +OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc.symbol:30775 semapv:UnspecifiedMatching +OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch hgnc.symbol:GTF2IRD2 semapv:UnspecifiedMatching OMIM:608899 gtf2i repeat domain-containing protein 2, alpha skos:exactMatch ncbigene:84163 semapv:UnspecifiedMatching -OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc:GTF2IRD2B semapv:UnspecifiedMatching +OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:33125 semapv:UnspecifiedMatching +OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch hgnc.symbol:GTF2IRD2B semapv:UnspecifiedMatching OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch ncbigene:389524 semapv:UnspecifiedMatching OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C1837149 semapv:UnspecifiedMatching OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching OMIM:608909 ARL5B skos:exactMatch UMLS:C1824206 semapv:UnspecifiedMatching -OMIM:608909 ARL5B skos:exactMatch hgnc:ARL5B semapv:UnspecifiedMatching +OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:23052 semapv:UnspecifiedMatching +OMIM:608909 ARL5B skos:exactMatch hgnc.symbol:ARL5B semapv:UnspecifiedMatching OMIM:608909 ARL5B skos:exactMatch ncbigene:221079 semapv:UnspecifiedMatching -OMIM:608910 CTAGE4 skos:exactMatch hgnc:CTAGE4 semapv:UnspecifiedMatching +OMIM:608910 CTAGE4 skos:exactMatch hgnc.symbol:24772 semapv:UnspecifiedMatching +OMIM:608910 CTAGE4 skos:exactMatch hgnc.symbol:CTAGE4 semapv:UnspecifiedMatching OMIM:608910 CTAGE4 skos:exactMatch ncbigene:100128553 semapv:UnspecifiedMatching -OMIM:608912 POTEB skos:exactMatch hgnc:POTEB semapv:UnspecifiedMatching +OMIM:608912 POTEB skos:exactMatch hgnc.symbol:33734 semapv:UnspecifiedMatching +OMIM:608912 POTEB skos:exactMatch hgnc.symbol:POTEB semapv:UnspecifiedMatching OMIM:608912 POTEB skos:exactMatch ncbigene:100996331 semapv:UnspecifiedMatching -OMIM:608913 POTEH skos:exactMatch hgnc:POTEH semapv:UnspecifiedMatching +OMIM:608913 POTEH skos:exactMatch hgnc.symbol:133 semapv:UnspecifiedMatching +OMIM:608913 POTEH skos:exactMatch hgnc.symbol:POTEH semapv:UnspecifiedMatching OMIM:608913 POTEH skos:exactMatch ncbigene:23784 semapv:UnspecifiedMatching -OMIM:608914 POTEE skos:exactMatch hgnc:POTEE semapv:UnspecifiedMatching +OMIM:608914 POTEE skos:exactMatch hgnc.symbol:33895 semapv:UnspecifiedMatching +OMIM:608914 POTEE skos:exactMatch hgnc.symbol:POTEE semapv:UnspecifiedMatching OMIM:608914 POTEE skos:exactMatch ncbigene:445582 semapv:UnspecifiedMatching -OMIM:608915 POTEA skos:exactMatch hgnc:POTEA semapv:UnspecifiedMatching +OMIM:608915 POTEA skos:exactMatch hgnc.symbol:33893 semapv:UnspecifiedMatching +OMIM:608915 POTEA skos:exactMatch hgnc.symbol:POTEA semapv:UnspecifiedMatching OMIM:608915 POTEA skos:exactMatch ncbigene:340441 semapv:UnspecifiedMatching -OMIM:608916 POTEG skos:exactMatch hgnc:POTEG semapv:UnspecifiedMatching +OMIM:608916 POTEG skos:exactMatch hgnc.symbol:33896 semapv:UnspecifiedMatching +OMIM:608916 POTEG skos:exactMatch hgnc.symbol:POTEG semapv:UnspecifiedMatching OMIM:608916 POTEG skos:exactMatch ncbigene:404785 semapv:UnspecifiedMatching -OMIM:608917 ATPAF1 skos:exactMatch hgnc:ATPAF1 semapv:UnspecifiedMatching +OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:18803 semapv:UnspecifiedMatching +OMIM:608917 ATPAF1 skos:exactMatch hgnc.symbol:ATPAF1 semapv:UnspecifiedMatching OMIM:608917 ATPAF1 skos:exactMatch ncbigene:64756 semapv:UnspecifiedMatching -OMIM:608918 ATPAF2 skos:exactMatch hgnc:ATPAF2 semapv:UnspecifiedMatching +OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:18802 semapv:UnspecifiedMatching +OMIM:608918 ATPAF2 skos:exactMatch hgnc.symbol:ATPAF2 semapv:UnspecifiedMatching OMIM:608918 ATPAF2 skos:exactMatch ncbigene:91647 semapv:UnspecifiedMatching -OMIM:608919 TTYH3 skos:exactMatch hgnc:TTYH3 semapv:UnspecifiedMatching +OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:22222 semapv:UnspecifiedMatching +OMIM:608919 TTYH3 skos:exactMatch hgnc.symbol:TTYH3 semapv:UnspecifiedMatching OMIM:608919 TTYH3 skos:exactMatch ncbigene:80727 semapv:UnspecifiedMatching -OMIM:608920 PITPNM2 skos:exactMatch hgnc:PITPNM2 semapv:UnspecifiedMatching +OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:21044 semapv:UnspecifiedMatching +OMIM:608920 PITPNM2 skos:exactMatch hgnc.symbol:PITPNM2 semapv:UnspecifiedMatching OMIM:608920 PITPNM2 skos:exactMatch ncbigene:57605 semapv:UnspecifiedMatching -OMIM:608921 PITPNM3 skos:exactMatch hgnc:PITPNM3 semapv:UnspecifiedMatching +OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:21043 semapv:UnspecifiedMatching +OMIM:608921 PITPNM3 skos:exactMatch hgnc.symbol:PITPNM3 semapv:UnspecifiedMatching OMIM:608921 PITPNM3 skos:exactMatch ncbigene:83394 semapv:UnspecifiedMatching OMIM:608922 ARL13B skos:exactMatch UMLS:C1824213 semapv:UnspecifiedMatching OMIM:608922 ARL13B skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching -OMIM:608922 ARL13B skos:exactMatch hgnc:ARL13B semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:25419 semapv:UnspecifiedMatching +OMIM:608922 ARL13B skos:exactMatch hgnc.symbol:ARL13B semapv:UnspecifiedMatching OMIM:608922 ARL13B skos:exactMatch ncbigene:200894 semapv:UnspecifiedMatching -OMIM:608923 TAAR6 skos:exactMatch hgnc:TAAR6 semapv:UnspecifiedMatching +OMIM:608923 TAAR6 skos:exactMatch hgnc.symbol:20978 semapv:UnspecifiedMatching +OMIM:608923 TAAR6 skos:exactMatch hgnc.symbol:TAAR6 semapv:UnspecifiedMatching OMIM:608923 TAAR6 skos:exactMatch ncbigene:319100 semapv:UnspecifiedMatching -OMIM:608924 FOXP4 skos:exactMatch hgnc:FOXP4 semapv:UnspecifiedMatching +OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:20842 semapv:UnspecifiedMatching +OMIM:608924 FOXP4 skos:exactMatch hgnc.symbol:FOXP4 semapv:UnspecifiedMatching OMIM:608924 FOXP4 skos:exactMatch ncbigene:116113 semapv:UnspecifiedMatching -OMIM:608925 MMRN2 skos:exactMatch hgnc:MMRN2 semapv:UnspecifiedMatching +OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:19888 semapv:UnspecifiedMatching +OMIM:608925 MMRN2 skos:exactMatch hgnc.symbol:MMRN2 semapv:UnspecifiedMatching OMIM:608925 MMRN2 skos:exactMatch ncbigene:79812 semapv:UnspecifiedMatching -OMIM:608926 EMID1 skos:exactMatch hgnc:EMID1 semapv:UnspecifiedMatching +OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:18036 semapv:UnspecifiedMatching +OMIM:608926 EMID1 skos:exactMatch hgnc.symbol:EMID1 semapv:UnspecifiedMatching OMIM:608926 EMID1 skos:exactMatch ncbigene:129080 semapv:UnspecifiedMatching -OMIM:608927 EMID2 skos:exactMatch hgnc:COL26A1 semapv:UnspecifiedMatching +OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:18038 semapv:UnspecifiedMatching +OMIM:608927 EMID2 skos:exactMatch hgnc.symbol:COL26A1 semapv:UnspecifiedMatching OMIM:608927 EMID2 skos:exactMatch ncbigene:136227 semapv:UnspecifiedMatching -OMIM:608928 EMILIN2 skos:exactMatch hgnc:EMILIN2 semapv:UnspecifiedMatching +OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:19881 semapv:UnspecifiedMatching +OMIM:608928 EMILIN2 skos:exactMatch hgnc.symbol:EMILIN2 semapv:UnspecifiedMatching OMIM:608928 EMILIN2 skos:exactMatch ncbigene:84034 semapv:UnspecifiedMatching -OMIM:608929 EMILIN3 skos:exactMatch hgnc:EMILIN3 semapv:UnspecifiedMatching +OMIM:608929 EMILIN3 skos:exactMatch hgnc.symbol:16123 semapv:UnspecifiedMatching +OMIM:608929 EMILIN3 skos:exactMatch hgnc.symbol:EMILIN3 semapv:UnspecifiedMatching OMIM:608929 EMILIN3 skos:exactMatch ncbigene:90187 semapv:UnspecifiedMatching +OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching +OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch UMLS:C1837091 semapv:UnspecifiedMatching -OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch orphanet.ordo:590 semapv:UnspecifiedMatching -OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch orphanet.ordo:98913 semapv:UnspecifiedMatching -OMIM:608933 NEIL2 skos:exactMatch hgnc:NEIL2 semapv:UnspecifiedMatching +OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:18956 semapv:UnspecifiedMatching +OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:NEIL2 semapv:UnspecifiedMatching OMIM:608933 NEIL2 skos:exactMatch ncbigene:252969 semapv:UnspecifiedMatching -OMIM:608934 NEIL3 skos:exactMatch hgnc:NEIL3 semapv:UnspecifiedMatching +OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:24573 semapv:UnspecifiedMatching +OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:NEIL3 semapv:UnspecifiedMatching OMIM:608934 NEIL3 skos:exactMatch ncbigene:55247 semapv:UnspecifiedMatching -OMIM:608936 OPRPN skos:exactMatch hgnc:OPRPN semapv:UnspecifiedMatching +OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:17279 semapv:UnspecifiedMatching +OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:OPRPN semapv:UnspecifiedMatching OMIM:608936 OPRPN skos:exactMatch ncbigene:58503 semapv:UnspecifiedMatching -OMIM:608937 SH2B1 skos:exactMatch hgnc:SH2B1 semapv:UnspecifiedMatching +OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:30417 semapv:UnspecifiedMatching +OMIM:608937 SH2B1 skos:exactMatch hgnc.symbol:SH2B1 semapv:UnspecifiedMatching OMIM:608937 SH2B1 skos:exactMatch ncbigene:25970 semapv:UnspecifiedMatching -OMIM:608938 RPS6KB1 skos:exactMatch hgnc:RPS6KB1 semapv:UnspecifiedMatching +OMIM:608938 RPS6KB1 skos:exactMatch hgnc.symbol:10436 semapv:UnspecifiedMatching +OMIM:608938 RPS6KB1 skos:exactMatch hgnc.symbol:RPS6KB1 semapv:UnspecifiedMatching OMIM:608938 RPS6KB1 skos:exactMatch ncbigene:6198 semapv:UnspecifiedMatching -OMIM:608939 RPS6KB2 skos:exactMatch hgnc:RPS6KB2 semapv:UnspecifiedMatching +OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:10437 semapv:UnspecifiedMatching +OMIM:608939 RPS6KB2 skos:exactMatch hgnc.symbol:RPS6KB2 semapv:UnspecifiedMatching OMIM:608939 RPS6KB2 skos:exactMatch ncbigene:6199 semapv:UnspecifiedMatching -OMIM:608941 GNG3 skos:exactMatch hgnc:GNG3 semapv:UnspecifiedMatching +OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:4405 semapv:UnspecifiedMatching +OMIM:608941 GNG3 skos:exactMatch hgnc.symbol:GNG3 semapv:UnspecifiedMatching OMIM:608941 GNG3 skos:exactMatch ncbigene:2785 semapv:UnspecifiedMatching -OMIM:608942 DYNLL2 skos:exactMatch hgnc:DYNLL2 semapv:UnspecifiedMatching +OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:24596 semapv:UnspecifiedMatching +OMIM:608942 DYNLL2 skos:exactMatch hgnc.symbol:DYNLL2 semapv:UnspecifiedMatching OMIM:608942 DYNLL2 skos:exactMatch ncbigene:140735 semapv:UnspecifiedMatching -OMIM:608943 CIAPIN1 skos:exactMatch hgnc:CIAPIN1 semapv:UnspecifiedMatching +OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:28050 semapv:UnspecifiedMatching +OMIM:608943 CIAPIN1 skos:exactMatch hgnc.symbol:CIAPIN1 semapv:UnspecifiedMatching OMIM:608943 CIAPIN1 skos:exactMatch ncbigene:57019 semapv:UnspecifiedMatching -OMIM:608944 FREM1 skos:exactMatch hgnc:FREM1 semapv:UnspecifiedMatching +OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:23399 semapv:UnspecifiedMatching +OMIM:608944 FREM1 skos:exactMatch hgnc.symbol:FREM1 semapv:UnspecifiedMatching OMIM:608944 FREM1 skos:exactMatch ncbigene:158326 semapv:UnspecifiedMatching -OMIM:608945 FREM2 skos:exactMatch hgnc:FREM2 semapv:UnspecifiedMatching +OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:25396 semapv:UnspecifiedMatching +OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:FREM2 semapv:UnspecifiedMatching OMIM:608945 FREM2 skos:exactMatch ncbigene:341640 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc:FREM3 semapv:UnspecifiedMatching +OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:25172 semapv:UnspecifiedMatching +OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch ncbigene:166752 semapv:UnspecifiedMatching OMIM:608947 KCTD13 skos:exactMatch UMLS:C1427765 semapv:UnspecifiedMatching -OMIM:608947 KCTD13 skos:exactMatch hgnc:KCTD13 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:22234 semapv:UnspecifiedMatching +OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:KCTD13 semapv:UnspecifiedMatching OMIM:608947 KCTD13 skos:exactMatch ncbigene:253980 semapv:UnspecifiedMatching -OMIM:608948 ZIC4 skos:exactMatch hgnc:ZIC4 semapv:UnspecifiedMatching +OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:20393 semapv:UnspecifiedMatching +OMIM:608948 ZIC4 skos:exactMatch hgnc.symbol:ZIC4 semapv:UnspecifiedMatching OMIM:608948 ZIC4 skos:exactMatch ncbigene:84107 semapv:UnspecifiedMatching -OMIM:608949 GLTP skos:exactMatch hgnc:GLTP semapv:UnspecifiedMatching +OMIM:608949 GLTP skos:exactMatch hgnc.symbol:24867 semapv:UnspecifiedMatching +OMIM:608949 GLTP skos:exactMatch hgnc.symbol:GLTP semapv:UnspecifiedMatching OMIM:608949 GLTP skos:exactMatch ncbigene:51228 semapv:UnspecifiedMatching -OMIM:608951 CNOT6 skos:exactMatch hgnc:CNOT6 semapv:UnspecifiedMatching +OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:14099 semapv:UnspecifiedMatching +OMIM:608951 CNOT6 skos:exactMatch hgnc.symbol:CNOT6 semapv:UnspecifiedMatching OMIM:608951 CNOT6 skos:exactMatch ncbigene:57472 semapv:UnspecifiedMatching -OMIM:608952 RIF1 skos:exactMatch hgnc:RIF1 semapv:UnspecifiedMatching +OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:23207 semapv:UnspecifiedMatching +OMIM:608952 RIF1 skos:exactMatch hgnc.symbol:RIF1 semapv:UnspecifiedMatching OMIM:608952 RIF1 skos:exactMatch ncbigene:55183 semapv:UnspecifiedMatching -OMIM:608953 TEKT2 skos:exactMatch hgnc:TEKT2 semapv:UnspecifiedMatching +OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:11725 semapv:UnspecifiedMatching +OMIM:608953 TEKT2 skos:exactMatch hgnc.symbol:TEKT2 semapv:UnspecifiedMatching OMIM:608953 TEKT2 skos:exactMatch ncbigene:27285 semapv:UnspecifiedMatching OMIM:608954 MON1B skos:exactMatch UMLS:C1537934 semapv:UnspecifiedMatching -OMIM:608954 MON1B skos:exactMatch hgnc:MON1B semapv:UnspecifiedMatching +OMIM:608954 MON1B skos:exactMatch hgnc.symbol:25020 semapv:UnspecifiedMatching +OMIM:608954 MON1B skos:exactMatch hgnc.symbol:MON1B semapv:UnspecifiedMatching OMIM:608954 MON1B skos:exactMatch ncbigene:22879 semapv:UnspecifiedMatching -OMIM:608955 TTLL1 skos:exactMatch hgnc:TTLL1 semapv:UnspecifiedMatching +OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:1312 semapv:UnspecifiedMatching +OMIM:608955 TTLL1 skos:exactMatch hgnc.symbol:TTLL1 semapv:UnspecifiedMatching OMIM:608955 TTLL1 skos:exactMatch ncbigene:25809 semapv:UnspecifiedMatching -OMIM:608956 SLC46A2 skos:exactMatch hgnc:SLC46A2 semapv:UnspecifiedMatching +OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:16055 semapv:UnspecifiedMatching +OMIM:608956 SLC46A2 skos:exactMatch hgnc.symbol:SLC46A2 semapv:UnspecifiedMatching OMIM:608956 SLC46A2 skos:exactMatch ncbigene:57864 semapv:UnspecifiedMatching -OMIM:608958 ADA skos:exactMatch hgnc:ADA semapv:UnspecifiedMatching +OMIM:608958 ADA skos:exactMatch hgnc.symbol:186 semapv:UnspecifiedMatching +OMIM:608958 ADA skos:exactMatch hgnc.symbol:ADA semapv:UnspecifiedMatching OMIM:608958 ADA skos:exactMatch ncbigene:100 semapv:UnspecifiedMatching -OMIM:608959 DPH3 skos:exactMatch hgnc:DPH3 semapv:UnspecifiedMatching +OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:27717 semapv:UnspecifiedMatching +OMIM:608959 DPH3 skos:exactMatch hgnc.symbol:DPH3 semapv:UnspecifiedMatching OMIM:608959 DPH3 skos:exactMatch ncbigene:285381 semapv:UnspecifiedMatching OMIM:608960 ARL5A skos:exactMatch UMLS:C1824205 semapv:UnspecifiedMatching -OMIM:608960 ARL5A skos:exactMatch hgnc:ARL5A semapv:UnspecifiedMatching +OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:696 semapv:UnspecifiedMatching +OMIM:608960 ARL5A skos:exactMatch hgnc.symbol:ARL5A semapv:UnspecifiedMatching OMIM:608960 ARL5A skos:exactMatch ncbigene:26225 semapv:UnspecifiedMatching OMIM:608961 TRPM3 skos:exactMatch UMLS:C1425222 semapv:UnspecifiedMatching OMIM:608961 TRPM3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:608961 TRPM3 skos:exactMatch hgnc:TRPM3 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch hgnc.symbol:17992 semapv:UnspecifiedMatching +OMIM:608961 TRPM3 skos:exactMatch hgnc.symbol:TRPM3 semapv:UnspecifiedMatching OMIM:608961 TRPM3 skos:exactMatch ncbigene:80036 semapv:UnspecifiedMatching -OMIM:608962 RHBDL2 skos:exactMatch hgnc:RHBDL2 semapv:UnspecifiedMatching +OMIM:608962 RHBDL2 skos:exactMatch hgnc.symbol:16083 semapv:UnspecifiedMatching +OMIM:608962 RHBDL2 skos:exactMatch hgnc.symbol:RHBDL2 semapv:UnspecifiedMatching OMIM:608962 RHBDL2 skos:exactMatch ncbigene:54933 semapv:UnspecifiedMatching -OMIM:608963 NUTM1 skos:exactMatch hgnc:NUTM1 semapv:UnspecifiedMatching +OMIM:608963 NUTM1 skos:exactMatch hgnc.symbol:29919 semapv:UnspecifiedMatching +OMIM:608963 NUTM1 skos:exactMatch hgnc.symbol:NUTM1 semapv:UnspecifiedMatching OMIM:608963 NUTM1 skos:exactMatch ncbigene:256646 semapv:UnspecifiedMatching -OMIM:608964 TBPL2 skos:exactMatch hgnc:TBPL2 semapv:UnspecifiedMatching +OMIM:608964 TBPL2 skos:exactMatch hgnc.symbol:19841 semapv:UnspecifiedMatching +OMIM:608964 TBPL2 skos:exactMatch hgnc.symbol:TBPL2 semapv:UnspecifiedMatching OMIM:608964 TBPL2 skos:exactMatch ncbigene:387332 semapv:UnspecifiedMatching -OMIM:608965 CABP4 skos:exactMatch hgnc:CABP4 semapv:UnspecifiedMatching +OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:1386 semapv:UnspecifiedMatching +OMIM:608965 CABP4 skos:exactMatch hgnc.symbol:CABP4 semapv:UnspecifiedMatching OMIM:608965 CABP4 skos:exactMatch ncbigene:57010 semapv:UnspecifiedMatching -OMIM:608966 DACT2 skos:exactMatch hgnc:DACT2 semapv:UnspecifiedMatching +OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:21231 semapv:UnspecifiedMatching +OMIM:608966 DACT2 skos:exactMatch hgnc.symbol:DACT2 semapv:UnspecifiedMatching OMIM:608966 DACT2 skos:exactMatch ncbigene:168002 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C1416710 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C2674705 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C4310873 semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch UMLS:C4310874 semapv:UnspecifiedMatching -OMIM:608968 MAFB skos:exactMatch hgnc:MAFB semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch hgnc.symbol:6408 semapv:UnspecifiedMatching +OMIM:608968 MAFB skos:exactMatch hgnc.symbol:MAFB semapv:UnspecifiedMatching OMIM:608968 MAFB skos:exactMatch ncbigene:9935 semapv:UnspecifiedMatching -OMIM:608969 UTP14C skos:exactMatch hgnc:UTP14C semapv:UnspecifiedMatching +OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:20321 semapv:UnspecifiedMatching +OMIM:608969 UTP14C skos:exactMatch hgnc.symbol:UTP14C semapv:UnspecifiedMatching OMIM:608969 UTP14C skos:exactMatch ncbigene:9724 semapv:UnspecifiedMatching -OMIM:608972 CRTC2 skos:exactMatch hgnc:CRTC2 semapv:UnspecifiedMatching +OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:27301 semapv:UnspecifiedMatching +OMIM:608972 CRTC2 skos:exactMatch hgnc.symbol:CRTC2 semapv:UnspecifiedMatching OMIM:608972 CRTC2 skos:exactMatch ncbigene:200186 semapv:UnspecifiedMatching -OMIM:608973 SIK2 skos:exactMatch hgnc:SIK2 semapv:UnspecifiedMatching +OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:21680 semapv:UnspecifiedMatching +OMIM:608973 SIK2 skos:exactMatch hgnc.symbol:SIK2 semapv:UnspecifiedMatching OMIM:608973 SIK2 skos:exactMatch ncbigene:23235 semapv:UnspecifiedMatching -OMIM:608974 C1RL skos:exactMatch hgnc:C1RL semapv:UnspecifiedMatching +OMIM:608974 C1RL skos:exactMatch hgnc.symbol:21265 semapv:UnspecifiedMatching +OMIM:608974 C1RL skos:exactMatch hgnc.symbol:C1RL semapv:UnspecifiedMatching OMIM:608974 C1RL skos:exactMatch ncbigene:51279 semapv:UnspecifiedMatching OMIM:608975 PARD6B skos:exactMatch UMLS:C1424118 semapv:UnspecifiedMatching -OMIM:608975 PARD6B skos:exactMatch hgnc:PARD6B semapv:UnspecifiedMatching +OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:16245 semapv:UnspecifiedMatching +OMIM:608975 PARD6B skos:exactMatch hgnc.symbol:PARD6B semapv:UnspecifiedMatching OMIM:608975 PARD6B skos:exactMatch ncbigene:84612 semapv:UnspecifiedMatching OMIM:608976 PARD6G skos:exactMatch UMLS:C1423959 semapv:UnspecifiedMatching -OMIM:608976 PARD6G skos:exactMatch hgnc:PARD6G semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:16076 semapv:UnspecifiedMatching +OMIM:608976 PARD6G skos:exactMatch hgnc.symbol:PARD6G semapv:UnspecifiedMatching OMIM:608976 PARD6G skos:exactMatch ncbigene:84552 semapv:UnspecifiedMatching -OMIM:608977 DNAJC19 skos:exactMatch hgnc:DNAJC19 semapv:UnspecifiedMatching +OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:30528 semapv:UnspecifiedMatching +OMIM:608977 DNAJC19 skos:exactMatch hgnc.symbol:DNAJC19 semapv:UnspecifiedMatching OMIM:608977 DNAJC19 skos:exactMatch ncbigene:131118 semapv:UnspecifiedMatching -OMIM:608979 PPM1M skos:exactMatch hgnc:PPM1M semapv:UnspecifiedMatching +OMIM:608979 PPM1M skos:exactMatch hgnc.symbol:26506 semapv:UnspecifiedMatching +OMIM:608979 PPM1M skos:exactMatch hgnc.symbol:PPM1M semapv:UnspecifiedMatching OMIM:608979 PPM1M skos:exactMatch ncbigene:132160 semapv:UnspecifiedMatching -OMIM:608981 ACVR1C skos:exactMatch hgnc:ACVR1C semapv:UnspecifiedMatching +OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:18123 semapv:UnspecifiedMatching +OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:ACVR1C semapv:UnspecifiedMatching OMIM:608981 ACVR1C skos:exactMatch ncbigene:130399 semapv:UnspecifiedMatching -OMIM:608985 RNF2 skos:exactMatch hgnc:RNF2 semapv:UnspecifiedMatching +OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:10061 semapv:UnspecifiedMatching +OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:RNF2 semapv:UnspecifiedMatching OMIM:608985 RNF2 skos:exactMatch ncbigene:6045 semapv:UnspecifiedMatching -OMIM:608986 CRTC3 skos:exactMatch hgnc:CRTC3 semapv:UnspecifiedMatching +OMIM:608986 CRTC3 skos:exactMatch hgnc.symbol:26148 semapv:UnspecifiedMatching +OMIM:608986 CRTC3 skos:exactMatch hgnc.symbol:CRTC3 semapv:UnspecifiedMatching OMIM:608986 CRTC3 skos:exactMatch ncbigene:64784 semapv:UnspecifiedMatching -OMIM:608987 P4HA3 skos:exactMatch hgnc:P4HA3 semapv:UnspecifiedMatching +OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:30135 semapv:UnspecifiedMatching +OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:P4HA3 semapv:UnspecifiedMatching OMIM:608987 P4HA3 skos:exactMatch ncbigene:283208 semapv:UnspecifiedMatching -OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc:SDR16C5 semapv:UnspecifiedMatching +OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:30311 semapv:UnspecifiedMatching +OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:SDR16C5 semapv:UnspecifiedMatching OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch ncbigene:195814 semapv:UnspecifiedMatching -OMIM:608990 ADAMTS10 skos:exactMatch hgnc:ADAMTS10 semapv:UnspecifiedMatching +OMIM:608990 ADAMTS10 skos:exactMatch hgnc.symbol:13201 semapv:UnspecifiedMatching +OMIM:608990 ADAMTS10 skos:exactMatch hgnc.symbol:ADAMTS10 semapv:UnspecifiedMatching OMIM:608990 ADAMTS10 skos:exactMatch ncbigene:81794 semapv:UnspecifiedMatching -OMIM:608991 MAML3 skos:exactMatch hgnc:MAML3 semapv:UnspecifiedMatching +OMIM:608991 MAML3 skos:exactMatch hgnc.symbol:16272 semapv:UnspecifiedMatching +OMIM:608991 MAML3 skos:exactMatch hgnc.symbol:MAML3 semapv:UnspecifiedMatching OMIM:608991 MAML3 skos:exactMatch ncbigene:55534 semapv:UnspecifiedMatching -OMIM:608992 BCL6B skos:exactMatch hgnc:BCL6B semapv:UnspecifiedMatching +OMIM:608992 BCL6B skos:exactMatch hgnc.symbol:1002 semapv:UnspecifiedMatching +OMIM:608992 BCL6B skos:exactMatch hgnc.symbol:BCL6B semapv:UnspecifiedMatching OMIM:608992 BCL6B skos:exactMatch ncbigene:255877 semapv:UnspecifiedMatching -OMIM:608993 APOBEC3F skos:exactMatch hgnc:APOBEC3F semapv:UnspecifiedMatching +OMIM:608993 APOBEC3F skos:exactMatch hgnc.symbol:17356 semapv:UnspecifiedMatching +OMIM:608993 APOBEC3F skos:exactMatch hgnc.symbol:APOBEC3F semapv:UnspecifiedMatching OMIM:608993 APOBEC3F skos:exactMatch ncbigene:200316 semapv:UnspecifiedMatching -OMIM:608994 ANKS1A skos:exactMatch hgnc:ANKS1A semapv:UnspecifiedMatching +OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:20961 semapv:UnspecifiedMatching +OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:ANKS1A semapv:UnspecifiedMatching OMIM:608994 ANKS1A skos:exactMatch ncbigene:23294 semapv:UnspecifiedMatching -OMIM:608998 EIPR1 skos:exactMatch hgnc:EIPR1 semapv:UnspecifiedMatching +OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:12383 semapv:UnspecifiedMatching +OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:EIPR1 semapv:UnspecifiedMatching OMIM:608998 EIPR1 skos:exactMatch ncbigene:7260 semapv:UnspecifiedMatching -OMIM:608999 TSSC2 skos:exactMatch hgnc:TSSC2 semapv:UnspecifiedMatching +OMIM:608999 TSSC2 skos:exactMatch hgnc.symbol:12384 semapv:UnspecifiedMatching +OMIM:608999 TSSC2 skos:exactMatch hgnc.symbol:TSSC2 semapv:UnspecifiedMatching OMIM:608999 TSSC2 skos:exactMatch ncbigene:650368 semapv:UnspecifiedMatching -OMIM:609000 MOXD1 skos:exactMatch hgnc:MOXD1 semapv:UnspecifiedMatching +OMIM:609000 MOXD1 skos:exactMatch hgnc.symbol:21063 semapv:UnspecifiedMatching +OMIM:609000 MOXD1 skos:exactMatch hgnc.symbol:MOXD1 semapv:UnspecifiedMatching OMIM:609000 MOXD1 skos:exactMatch ncbigene:26002 semapv:UnspecifiedMatching -OMIM:609001 PIK3C2G skos:exactMatch hgnc:PIK3C2G semapv:UnspecifiedMatching +OMIM:609001 PIK3C2G skos:exactMatch hgnc.symbol:8973 semapv:UnspecifiedMatching +OMIM:609001 PIK3C2G skos:exactMatch hgnc.symbol:PIK3C2G semapv:UnspecifiedMatching OMIM:609001 PIK3C2G skos:exactMatch ncbigene:5288 semapv:UnspecifiedMatching -OMIM:609002 TEKT1 skos:exactMatch hgnc:TEKT1 semapv:UnspecifiedMatching +OMIM:609002 TEKT1 skos:exactMatch hgnc.symbol:15534 semapv:UnspecifiedMatching +OMIM:609002 TEKT1 skos:exactMatch hgnc.symbol:TEKT1 semapv:UnspecifiedMatching OMIM:609002 TEKT1 skos:exactMatch ncbigene:83659 semapv:UnspecifiedMatching -OMIM:609003 FIS1 skos:exactMatch hgnc:FIS1 semapv:UnspecifiedMatching +OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:21689 semapv:UnspecifiedMatching +OMIM:609003 FIS1 skos:exactMatch hgnc.symbol:FIS1 semapv:UnspecifiedMatching OMIM:609003 FIS1 skos:exactMatch ncbigene:51024 semapv:UnspecifiedMatching -OMIM:609004 BCL9L skos:exactMatch hgnc:BCL9L semapv:UnspecifiedMatching +OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:23688 semapv:UnspecifiedMatching +OMIM:609004 BCL9L skos:exactMatch hgnc.symbol:BCL9L semapv:UnspecifiedMatching OMIM:609004 BCL9L skos:exactMatch ncbigene:283149 semapv:UnspecifiedMatching -OMIM:609005 WDR17 skos:exactMatch hgnc:WDR17 semapv:UnspecifiedMatching +OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:16661 semapv:UnspecifiedMatching +OMIM:609005 WDR17 skos:exactMatch hgnc.symbol:WDR17 semapv:UnspecifiedMatching OMIM:609005 WDR17 skos:exactMatch ncbigene:116966 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch UMLS:C1425650 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch UMLS:C1846862 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch UMLS:C4017179 semapv:UnspecifiedMatching -OMIM:609007 LRRK2 skos:exactMatch hgnc:LRRK2 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:18618 semapv:UnspecifiedMatching +OMIM:609007 LRRK2 skos:exactMatch hgnc.symbol:LRRK2 semapv:UnspecifiedMatching OMIM:609007 LRRK2 skos:exactMatch ncbigene:120892 semapv:UnspecifiedMatching -OMIM:609009 YWHAQ skos:exactMatch hgnc:YWHAQ semapv:UnspecifiedMatching +OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:12854 semapv:UnspecifiedMatching +OMIM:609009 YWHAQ skos:exactMatch hgnc.symbol:YWHAQ semapv:UnspecifiedMatching OMIM:609009 YWHAQ skos:exactMatch ncbigene:10971 semapv:UnspecifiedMatching -OMIM:609010 MCCC1 skos:exactMatch hgnc:MCCC1 semapv:UnspecifiedMatching +OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:6936 semapv:UnspecifiedMatching +OMIM:609010 MCCC1 skos:exactMatch hgnc.symbol:MCCC1 semapv:UnspecifiedMatching OMIM:609010 MCCC1 skos:exactMatch ncbigene:56922 semapv:UnspecifiedMatching -OMIM:609011 VASH1 skos:exactMatch hgnc:VASH1 semapv:UnspecifiedMatching +OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:19964 semapv:UnspecifiedMatching +OMIM:609011 VASH1 skos:exactMatch hgnc.symbol:VASH1 semapv:UnspecifiedMatching OMIM:609011 VASH1 skos:exactMatch ncbigene:22846 semapv:UnspecifiedMatching -OMIM:609012 WDR5 skos:exactMatch hgnc:WDR5 semapv:UnspecifiedMatching +OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:12757 semapv:UnspecifiedMatching +OMIM:609012 WDR5 skos:exactMatch hgnc.symbol:WDR5 semapv:UnspecifiedMatching OMIM:609012 WDR5 skos:exactMatch ncbigene:11091 semapv:UnspecifiedMatching -OMIM:609013 SLCO4C1 skos:exactMatch hgnc:SLCO4C1 semapv:UnspecifiedMatching +OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:23612 semapv:UnspecifiedMatching +OMIM:609013 SLCO4C1 skos:exactMatch hgnc.symbol:SLCO4C1 semapv:UnspecifiedMatching OMIM:609013 SLCO4C1 skos:exactMatch ncbigene:353189 semapv:UnspecifiedMatching -OMIM:609014 MCCC2 skos:exactMatch hgnc:MCCC2 semapv:UnspecifiedMatching +OMIM:609014 MCCC2 skos:exactMatch hgnc.symbol:6937 semapv:UnspecifiedMatching +OMIM:609014 MCCC2 skos:exactMatch hgnc.symbol:MCCC2 semapv:UnspecifiedMatching OMIM:609014 MCCC2 skos:exactMatch ncbigene:64087 semapv:UnspecifiedMatching +OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch Orphanet:746 semapv:UnspecifiedMatching OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch UMLS:C1969443 semapv:UnspecifiedMatching -OMIM:609015 mitochondrial trifunctional protein deficiency 1 skos:exactMatch orphanet.ordo:746 semapv:UnspecifiedMatching -OMIM:609017 ERMAP skos:exactMatch hgnc:ERMAP semapv:UnspecifiedMatching +OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:15743 semapv:UnspecifiedMatching +OMIM:609017 ERMAP skos:exactMatch hgnc.symbol:ERMAP semapv:UnspecifiedMatching OMIM:609017 ERMAP skos:exactMatch ncbigene:114625 semapv:UnspecifiedMatching -OMIM:609018 HLCS skos:exactMatch hgnc:HLCS semapv:UnspecifiedMatching +OMIM:609018 HLCS skos:exactMatch hgnc.symbol:4976 semapv:UnspecifiedMatching +OMIM:609018 HLCS skos:exactMatch hgnc.symbol:HLCS semapv:UnspecifiedMatching OMIM:609018 HLCS skos:exactMatch ncbigene:3141 semapv:UnspecifiedMatching OMIM:609019 BTD skos:exactMatch UMLS:C0220754 semapv:UnspecifiedMatching OMIM:609019 BTD skos:exactMatch UMLS:C1412833 semapv:UnspecifiedMatching -OMIM:609019 BTD skos:exactMatch hgnc:BTD semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch hgnc.symbol:1122 semapv:UnspecifiedMatching +OMIM:609019 BTD skos:exactMatch hgnc.symbol:BTD semapv:UnspecifiedMatching OMIM:609019 BTD skos:exactMatch ncbigene:686 semapv:UnspecifiedMatching -OMIM:609020 FOLH1B skos:exactMatch hgnc:FOLH1B semapv:UnspecifiedMatching +OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:13636 semapv:UnspecifiedMatching +OMIM:609020 FOLH1B skos:exactMatch hgnc.symbol:FOLH1B semapv:UnspecifiedMatching OMIM:609020 FOLH1B skos:exactMatch ncbigene:219595 semapv:UnspecifiedMatching -OMIM:609022 RICTOR skos:exactMatch hgnc:RICTOR semapv:UnspecifiedMatching +OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:28611 semapv:UnspecifiedMatching +OMIM:609022 RICTOR skos:exactMatch hgnc.symbol:RICTOR semapv:UnspecifiedMatching OMIM:609022 RICTOR skos:exactMatch ncbigene:253260 semapv:UnspecifiedMatching OMIM:609023 PNKD skos:exactMatch UMLS:C1418706 semapv:UnspecifiedMatching OMIM:609023 PNKD skos:exactMatch UMLS:C4551506 semapv:UnspecifiedMatching -OMIM:609023 PNKD skos:exactMatch hgnc:PNKD semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch hgnc.symbol:9153 semapv:UnspecifiedMatching +OMIM:609023 PNKD skos:exactMatch hgnc.symbol:PNKD semapv:UnspecifiedMatching OMIM:609023 PNKD skos:exactMatch ncbigene:25953 semapv:UnspecifiedMatching OMIM:609024 KDELR2 skos:exactMatch UMLS:C1416623 semapv:UnspecifiedMatching OMIM:609024 KDELR2 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching -OMIM:609024 KDELR2 skos:exactMatch hgnc:KDELR2 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:6305 semapv:UnspecifiedMatching +OMIM:609024 KDELR2 skos:exactMatch hgnc.symbol:KDELR2 semapv:UnspecifiedMatching OMIM:609024 KDELR2 skos:exactMatch ncbigene:11014 semapv:UnspecifiedMatching -OMIM:609025 KRT75 skos:exactMatch hgnc:KRT75 semapv:UnspecifiedMatching +OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:24431 semapv:UnspecifiedMatching +OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:KRT75 semapv:UnspecifiedMatching OMIM:609025 KRT75 skos:exactMatch ncbigene:9119 semapv:UnspecifiedMatching -OMIM:609028 TIFA skos:exactMatch hgnc:TIFA semapv:UnspecifiedMatching +OMIM:609028 TIFA skos:exactMatch hgnc.symbol:19075 semapv:UnspecifiedMatching +OMIM:609028 TIFA skos:exactMatch hgnc.symbol:TIFA semapv:UnspecifiedMatching OMIM:609028 TIFA skos:exactMatch ncbigene:92610 semapv:UnspecifiedMatching -OMIM:609030 DGCR8 skos:exactMatch hgnc:DGCR8 semapv:UnspecifiedMatching +OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:2847 semapv:UnspecifiedMatching +OMIM:609030 DGCR8 skos:exactMatch hgnc.symbol:DGCR8 semapv:UnspecifiedMatching OMIM:609030 DGCR8 skos:exactMatch ncbigene:54487 semapv:UnspecifiedMatching -OMIM:609031 EPPIN skos:exactMatch hgnc:EPPIN semapv:UnspecifiedMatching +OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:15932 semapv:UnspecifiedMatching +OMIM:609031 EPPIN skos:exactMatch hgnc.symbol:EPPIN semapv:UnspecifiedMatching OMIM:609031 EPPIN skos:exactMatch ncbigene:57119 semapv:UnspecifiedMatching -OMIM:609032 FRG2 skos:exactMatch hgnc:FRG2 semapv:UnspecifiedMatching +OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:19136 semapv:UnspecifiedMatching +OMIM:609032 FRG2 skos:exactMatch hgnc.symbol:FRG2 semapv:UnspecifiedMatching OMIM:609032 FRG2 skos:exactMatch ncbigene:448831 semapv:UnspecifiedMatching OMIM:609034 HEYL skos:exactMatch UMLS:C1415526 semapv:UnspecifiedMatching -OMIM:609034 HEYL skos:exactMatch hgnc:HEYL semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch hgnc.symbol:4882 semapv:UnspecifiedMatching +OMIM:609034 HEYL skos:exactMatch hgnc.symbol:HEYL semapv:UnspecifiedMatching OMIM:609034 HEYL skos:exactMatch ncbigene:26508 semapv:UnspecifiedMatching -OMIM:609035 RAPH1 skos:exactMatch hgnc:RAPH1 semapv:UnspecifiedMatching +OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:14436 semapv:UnspecifiedMatching +OMIM:609035 RAPH1 skos:exactMatch hgnc.symbol:RAPH1 semapv:UnspecifiedMatching OMIM:609035 RAPH1 skos:exactMatch ncbigene:65059 semapv:UnspecifiedMatching -OMIM:609036 APBB1IP skos:exactMatch hgnc:APBB1IP semapv:UnspecifiedMatching +OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:17379 semapv:UnspecifiedMatching +OMIM:609036 APBB1IP skos:exactMatch hgnc.symbol:APBB1IP semapv:UnspecifiedMatching OMIM:609036 APBB1IP skos:exactMatch ncbigene:54518 semapv:UnspecifiedMatching -OMIM:609038 RND1 skos:exactMatch hgnc:RND1 semapv:UnspecifiedMatching +OMIM:609038 RND1 skos:exactMatch hgnc.symbol:18314 semapv:UnspecifiedMatching +OMIM:609038 RND1 skos:exactMatch hgnc.symbol:RND1 semapv:UnspecifiedMatching OMIM:609038 RND1 skos:exactMatch ncbigene:27289 semapv:UnspecifiedMatching +OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching -OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch orphanet.ordo:217656 semapv:UnspecifiedMatching -OMIM:609042 OPN5 skos:exactMatch hgnc:OPN5 semapv:UnspecifiedMatching +OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:19992 semapv:UnspecifiedMatching +OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:OPN5 semapv:UnspecifiedMatching OMIM:609042 OPN5 skos:exactMatch ncbigene:221391 semapv:UnspecifiedMatching -OMIM:609043 RXFP4 skos:exactMatch hgnc:RXFP4 semapv:UnspecifiedMatching +OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:14666 semapv:UnspecifiedMatching +OMIM:609043 RXFP4 skos:exactMatch hgnc.symbol:RXFP4 semapv:UnspecifiedMatching OMIM:609043 RXFP4 skos:exactMatch ncbigene:339403 semapv:UnspecifiedMatching -OMIM:609044 FFAR4 skos:exactMatch hgnc:FFAR4 semapv:UnspecifiedMatching +OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:19061 semapv:UnspecifiedMatching +OMIM:609044 FFAR4 skos:exactMatch hgnc.symbol:FFAR4 semapv:UnspecifiedMatching OMIM:609044 FFAR4 skos:exactMatch ncbigene:338557 semapv:UnspecifiedMatching -OMIM:609045 GPR141 skos:exactMatch hgnc:GPR141 semapv:UnspecifiedMatching +OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:19997 semapv:UnspecifiedMatching +OMIM:609045 GPR141 skos:exactMatch hgnc.symbol:GPR141 semapv:UnspecifiedMatching OMIM:609045 GPR141 skos:exactMatch ncbigene:353345 semapv:UnspecifiedMatching -OMIM:609046 GPR142 skos:exactMatch hgnc:GPR142 semapv:UnspecifiedMatching +OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:20088 semapv:UnspecifiedMatching +OMIM:609046 GPR142 skos:exactMatch hgnc.symbol:GPR142 semapv:UnspecifiedMatching OMIM:609046 GPR142 skos:exactMatch ncbigene:350383 semapv:UnspecifiedMatching +OMIM:609049 pierson syndrome skos:exactMatch Orphanet:2670 semapv:UnspecifiedMatching OMIM:609049 pierson syndrome skos:exactMatch UMLS:C1836876 semapv:UnspecifiedMatching -OMIM:609049 pierson syndrome skos:exactMatch orphanet.ordo:2670 semapv:UnspecifiedMatching -OMIM:609050 MTA3 skos:exactMatch hgnc:MTA3 semapv:UnspecifiedMatching +OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:23784 semapv:UnspecifiedMatching +OMIM:609050 MTA3 skos:exactMatch hgnc.symbol:MTA3 semapv:UnspecifiedMatching OMIM:609050 MTA3 skos:exactMatch ncbigene:57504 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch UMLS:C1424714 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching -OMIM:609051 CARD8 skos:exactMatch hgnc:CARD8 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:17057 semapv:UnspecifiedMatching +OMIM:609051 CARD8 skos:exactMatch hgnc.symbol:CARD8 semapv:UnspecifiedMatching OMIM:609051 CARD8 skos:exactMatch ncbigene:22900 semapv:UnspecifiedMatching +OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching -OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch orphanet.ordo:370933 semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch UMLS:C1417504 semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch UMLS:C1855115 semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch UMLS:C1855116 semapv:UnspecifiedMatching -OMIM:609058 MMUT skos:exactMatch hgnc:MMUT semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch hgnc.symbol:7526 semapv:UnspecifiedMatching +OMIM:609058 MMUT skos:exactMatch hgnc.symbol:MMUT semapv:UnspecifiedMatching OMIM:609058 MMUT skos:exactMatch ncbigene:4594 semapv:UnspecifiedMatching -OMIM:609059 PNPLA2 skos:exactMatch hgnc:PNPLA2 semapv:UnspecifiedMatching +OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:30802 semapv:UnspecifiedMatching +OMIM:609059 PNPLA2 skos:exactMatch hgnc.symbol:PNPLA2 semapv:UnspecifiedMatching OMIM:609059 PNPLA2 skos:exactMatch ncbigene:57104 semapv:UnspecifiedMatching +OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch Orphanet:137681 semapv:UnspecifiedMatching OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch UMLS:C1836797 semapv:UnspecifiedMatching -OMIM:609060 combined oxidative phosphorylation deficiency 1 skos:exactMatch orphanet.ordo:137681 semapv:UnspecifiedMatching OMIM:609061 ENAH skos:exactMatch UMLS:C1425409 semapv:UnspecifiedMatching -OMIM:609061 ENAH skos:exactMatch hgnc:ENAH semapv:UnspecifiedMatching +OMIM:609061 ENAH skos:exactMatch hgnc.symbol:18271 semapv:UnspecifiedMatching +OMIM:609061 ENAH skos:exactMatch hgnc.symbol:ENAH semapv:UnspecifiedMatching OMIM:609061 ENAH skos:exactMatch ncbigene:55740 semapv:UnspecifiedMatching -OMIM:609062 POU6F2 skos:exactMatch hgnc:POU6F2 semapv:UnspecifiedMatching +OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:21694 semapv:UnspecifiedMatching +OMIM:609062 POU6F2 skos:exactMatch hgnc.symbol:POU6F2 semapv:UnspecifiedMatching OMIM:609062 POU6F2 skos:exactMatch ncbigene:11281 semapv:UnspecifiedMatching -OMIM:609063 TXN2 skos:exactMatch hgnc:TXN2 semapv:UnspecifiedMatching +OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:17772 semapv:UnspecifiedMatching +OMIM:609063 TXN2 skos:exactMatch hgnc.symbol:TXN2 semapv:UnspecifiedMatching OMIM:609063 TXN2 skos:exactMatch ncbigene:25828 semapv:UnspecifiedMatching -OMIM:609064 CNDP1 skos:exactMatch hgnc:CNDP1 semapv:UnspecifiedMatching +OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:20675 semapv:UnspecifiedMatching +OMIM:609064 CNDP1 skos:exactMatch hgnc.symbol:CNDP1 semapv:UnspecifiedMatching OMIM:609064 CNDP1 skos:exactMatch ncbigene:84735 semapv:UnspecifiedMatching OMIM:609066 AJUBA skos:exactMatch UMLS:C1426808 semapv:UnspecifiedMatching -OMIM:609066 AJUBA skos:exactMatch hgnc:AJUBA semapv:UnspecifiedMatching +OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:20250 semapv:UnspecifiedMatching +OMIM:609066 AJUBA skos:exactMatch hgnc.symbol:AJUBA semapv:UnspecifiedMatching OMIM:609066 AJUBA skos:exactMatch ncbigene:84962 semapv:UnspecifiedMatching OMIM:609067 SCX skos:exactMatch UMLS:C1822656 semapv:UnspecifiedMatching -OMIM:609067 SCX skos:exactMatch hgnc:SCX semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch hgnc.symbol:32322 semapv:UnspecifiedMatching +OMIM:609067 SCX skos:exactMatch hgnc.symbol:SCX semapv:UnspecifiedMatching OMIM:609067 SCX skos:exactMatch ncbigene:642658 semapv:UnspecifiedMatching -OMIM:609068 DAND5 skos:exactMatch hgnc:DAND5 semapv:UnspecifiedMatching +OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:26780 semapv:UnspecifiedMatching +OMIM:609068 DAND5 skos:exactMatch hgnc.symbol:DAND5 semapv:UnspecifiedMatching OMIM:609068 DAND5 skos:exactMatch ncbigene:199699 semapv:UnspecifiedMatching +OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch Orphanet:65288 semapv:UnspecifiedMatching OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch UMLS:C1836780 semapv:UnspecifiedMatching -OMIM:609069 pancreatic and cerebellar agenesis skos:exactMatch orphanet.ordo:65288 semapv:UnspecifiedMatching -OMIM:609071 FBXW2 skos:exactMatch hgnc:FBXW2 semapv:UnspecifiedMatching +OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:13608 semapv:UnspecifiedMatching +OMIM:609071 FBXW2 skos:exactMatch hgnc.symbol:FBXW2 semapv:UnspecifiedMatching OMIM:609071 FBXW2 skos:exactMatch ncbigene:26190 semapv:UnspecifiedMatching -OMIM:609072 FBXW5 skos:exactMatch hgnc:FBXW5 semapv:UnspecifiedMatching +OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:13613 semapv:UnspecifiedMatching +OMIM:609072 FBXW5 skos:exactMatch hgnc.symbol:FBXW5 semapv:UnspecifiedMatching OMIM:609072 FBXW5 skos:exactMatch ncbigene:54461 semapv:UnspecifiedMatching -OMIM:609073 FBXW8 skos:exactMatch hgnc:FBXW8 semapv:UnspecifiedMatching +OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:13597 semapv:UnspecifiedMatching +OMIM:609073 FBXW8 skos:exactMatch hgnc.symbol:FBXW8 semapv:UnspecifiedMatching OMIM:609073 FBXW8 skos:exactMatch ncbigene:26259 semapv:UnspecifiedMatching -OMIM:609074 FBXW9 skos:exactMatch hgnc:FBXW9 semapv:UnspecifiedMatching +OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:28136 semapv:UnspecifiedMatching +OMIM:609074 FBXW9 skos:exactMatch hgnc.symbol:FBXW9 semapv:UnspecifiedMatching OMIM:609074 FBXW9 skos:exactMatch ncbigene:84261 semapv:UnspecifiedMatching -OMIM:609075 FBXW12 skos:exactMatch hgnc:FBXW12 semapv:UnspecifiedMatching +OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:20729 semapv:UnspecifiedMatching +OMIM:609075 FBXW12 skos:exactMatch hgnc.symbol:FBXW12 semapv:UnspecifiedMatching OMIM:609075 FBXW12 skos:exactMatch ncbigene:285231 semapv:UnspecifiedMatching -OMIM:609076 FBXL6 skos:exactMatch hgnc:FBXL6 semapv:UnspecifiedMatching +OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:13603 semapv:UnspecifiedMatching +OMIM:609076 FBXL6 skos:exactMatch hgnc.symbol:FBXL6 semapv:UnspecifiedMatching OMIM:609076 FBXL6 skos:exactMatch ncbigene:26233 semapv:UnspecifiedMatching -OMIM:609077 FBXL8 skos:exactMatch hgnc:FBXL8 semapv:UnspecifiedMatching +OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:17875 semapv:UnspecifiedMatching +OMIM:609077 FBXL8 skos:exactMatch hgnc.symbol:FBXL8 semapv:UnspecifiedMatching OMIM:609077 FBXL8 skos:exactMatch ncbigene:55336 semapv:UnspecifiedMatching -OMIM:609078 KDM2B skos:exactMatch hgnc:KDM2B semapv:UnspecifiedMatching +OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:13610 semapv:UnspecifiedMatching +OMIM:609078 KDM2B skos:exactMatch hgnc.symbol:KDM2B semapv:UnspecifiedMatching OMIM:609078 KDM2B skos:exactMatch ncbigene:84678 semapv:UnspecifiedMatching -OMIM:609079 FBXL12 skos:exactMatch hgnc:FBXL12 semapv:UnspecifiedMatching +OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:13611 semapv:UnspecifiedMatching +OMIM:609079 FBXL12 skos:exactMatch hgnc.symbol:FBXL12 semapv:UnspecifiedMatching OMIM:609079 FBXL12 skos:exactMatch ncbigene:54850 semapv:UnspecifiedMatching OMIM:609080 FBXL13 skos:exactMatch UMLS:C1539481 semapv:UnspecifiedMatching -OMIM:609080 FBXL13 skos:exactMatch hgnc:FBXL13 semapv:UnspecifiedMatching +OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:21658 semapv:UnspecifiedMatching +OMIM:609080 FBXL13 skos:exactMatch hgnc.symbol:FBXL13 semapv:UnspecifiedMatching OMIM:609080 FBXL13 skos:exactMatch ncbigene:222235 semapv:UnspecifiedMatching -OMIM:609081 FBXL14 skos:exactMatch hgnc:FBXL14 semapv:UnspecifiedMatching +OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:28624 semapv:UnspecifiedMatching +OMIM:609081 FBXL14 skos:exactMatch hgnc.symbol:FBXL14 semapv:UnspecifiedMatching OMIM:609081 FBXL14 skos:exactMatch ncbigene:144699 semapv:UnspecifiedMatching -OMIM:609082 FBXL16 skos:exactMatch hgnc:FBXL16 semapv:UnspecifiedMatching +OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:14150 semapv:UnspecifiedMatching +OMIM:609082 FBXL16 skos:exactMatch hgnc.symbol:FBXL16 semapv:UnspecifiedMatching OMIM:609082 FBXL16 skos:exactMatch ncbigene:146330 semapv:UnspecifiedMatching -OMIM:609083 FBXL17 skos:exactMatch hgnc:FBXL17 semapv:UnspecifiedMatching +OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:13615 semapv:UnspecifiedMatching +OMIM:609083 FBXL17 skos:exactMatch hgnc.symbol:FBXL17 semapv:UnspecifiedMatching OMIM:609083 FBXL17 skos:exactMatch ncbigene:64839 semapv:UnspecifiedMatching -OMIM:609084 FBXL18 skos:exactMatch hgnc:FBXL18 semapv:UnspecifiedMatching +OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:21874 semapv:UnspecifiedMatching +OMIM:609084 FBXL18 skos:exactMatch hgnc.symbol:FBXL18 semapv:UnspecifiedMatching OMIM:609084 FBXL18 skos:exactMatch ncbigene:80028 semapv:UnspecifiedMatching -OMIM:609085 FBXL19 skos:exactMatch hgnc:FBXL19 semapv:UnspecifiedMatching +OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:25300 semapv:UnspecifiedMatching +OMIM:609085 FBXL19 skos:exactMatch hgnc.symbol:FBXL19 semapv:UnspecifiedMatching OMIM:609085 FBXL19 skos:exactMatch ncbigene:54620 semapv:UnspecifiedMatching -OMIM:609086 FBXL20 skos:exactMatch hgnc:FBXL20 semapv:UnspecifiedMatching +OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:24679 semapv:UnspecifiedMatching +OMIM:609086 FBXL20 skos:exactMatch hgnc.symbol:FBXL20 semapv:UnspecifiedMatching OMIM:609086 FBXL20 skos:exactMatch ncbigene:84961 semapv:UnspecifiedMatching -OMIM:609087 FBXL21 skos:exactMatch hgnc:FBXL21P semapv:UnspecifiedMatching +OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:13600 semapv:UnspecifiedMatching +OMIM:609087 FBXL21 skos:exactMatch hgnc.symbol:FBXL21P semapv:UnspecifiedMatching OMIM:609087 FBXL21 skos:exactMatch ncbigene:26223 semapv:UnspecifiedMatching -OMIM:609088 FBXL22 skos:exactMatch hgnc:FBXL22 semapv:UnspecifiedMatching +OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:27537 semapv:UnspecifiedMatching +OMIM:609088 FBXL22 skos:exactMatch hgnc.symbol:FBXL22 semapv:UnspecifiedMatching OMIM:609088 FBXL22 skos:exactMatch ncbigene:283807 semapv:UnspecifiedMatching -OMIM:609089 FBXO3 skos:exactMatch hgnc:FBXO3 semapv:UnspecifiedMatching +OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:13582 semapv:UnspecifiedMatching +OMIM:609089 FBXO3 skos:exactMatch hgnc.symbol:FBXO3 semapv:UnspecifiedMatching OMIM:609089 FBXO3 skos:exactMatch ncbigene:26273 semapv:UnspecifiedMatching -OMIM:609090 FBXO4 skos:exactMatch hgnc:FBXO4 semapv:UnspecifiedMatching +OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:13583 semapv:UnspecifiedMatching +OMIM:609090 FBXO4 skos:exactMatch hgnc.symbol:FBXO4 semapv:UnspecifiedMatching OMIM:609090 FBXO4 skos:exactMatch ncbigene:26272 semapv:UnspecifiedMatching -OMIM:609091 FBXO9 skos:exactMatch hgnc:FBXO9 semapv:UnspecifiedMatching +OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:13588 semapv:UnspecifiedMatching +OMIM:609091 FBXO9 skos:exactMatch hgnc.symbol:FBXO9 semapv:UnspecifiedMatching OMIM:609091 FBXO9 skos:exactMatch ncbigene:26268 semapv:UnspecifiedMatching -OMIM:609092 FBXO10 skos:exactMatch hgnc:FBXO10 semapv:UnspecifiedMatching +OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:13589 semapv:UnspecifiedMatching +OMIM:609092 FBXO10 skos:exactMatch hgnc.symbol:FBXO10 semapv:UnspecifiedMatching OMIM:609092 FBXO10 skos:exactMatch ncbigene:26267 semapv:UnspecifiedMatching -OMIM:609093 FBXO15 skos:exactMatch hgnc:FBXO15 semapv:UnspecifiedMatching +OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:13617 semapv:UnspecifiedMatching +OMIM:609093 FBXO15 skos:exactMatch hgnc.symbol:FBXO15 semapv:UnspecifiedMatching OMIM:609093 FBXO15 skos:exactMatch ncbigene:201456 semapv:UnspecifiedMatching -OMIM:609094 FBXO17 skos:exactMatch hgnc:FBXO17 semapv:UnspecifiedMatching +OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:18754 semapv:UnspecifiedMatching +OMIM:609094 FBXO17 skos:exactMatch hgnc.symbol:FBXO17 semapv:UnspecifiedMatching OMIM:609094 FBXO17 skos:exactMatch ncbigene:115290 semapv:UnspecifiedMatching -OMIM:609095 FBXO21 skos:exactMatch hgnc:FBXO21 semapv:UnspecifiedMatching +OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:13592 semapv:UnspecifiedMatching +OMIM:609095 FBXO21 skos:exactMatch hgnc.symbol:FBXO21 semapv:UnspecifiedMatching OMIM:609095 FBXO21 skos:exactMatch ncbigene:23014 semapv:UnspecifiedMatching -OMIM:609096 FBXO22 skos:exactMatch hgnc:FBXO22 semapv:UnspecifiedMatching +OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:13593 semapv:UnspecifiedMatching +OMIM:609096 FBXO22 skos:exactMatch hgnc.symbol:FBXO22 semapv:UnspecifiedMatching OMIM:609096 FBXO22 skos:exactMatch ncbigene:26263 semapv:UnspecifiedMatching -OMIM:609097 FBXO24 skos:exactMatch hgnc:FBXO24 semapv:UnspecifiedMatching +OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:13595 semapv:UnspecifiedMatching +OMIM:609097 FBXO24 skos:exactMatch hgnc.symbol:FBXO24 semapv:UnspecifiedMatching OMIM:609097 FBXO24 skos:exactMatch ncbigene:26261 semapv:UnspecifiedMatching -OMIM:609098 FBXO25 skos:exactMatch hgnc:FBXO25 semapv:UnspecifiedMatching +OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:13596 semapv:UnspecifiedMatching +OMIM:609098 FBXO25 skos:exactMatch hgnc.symbol:FBXO25 semapv:UnspecifiedMatching OMIM:609098 FBXO25 skos:exactMatch ncbigene:26260 semapv:UnspecifiedMatching -OMIM:609099 FBXO27 skos:exactMatch hgnc:FBXO27 semapv:UnspecifiedMatching +OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:18753 semapv:UnspecifiedMatching +OMIM:609099 FBXO27 skos:exactMatch hgnc.symbol:FBXO27 semapv:UnspecifiedMatching OMIM:609099 FBXO27 skos:exactMatch ncbigene:126433 semapv:UnspecifiedMatching -OMIM:609100 FBXO28 skos:exactMatch hgnc:FBXO28 semapv:UnspecifiedMatching +OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:29046 semapv:UnspecifiedMatching +OMIM:609100 FBXO28 skos:exactMatch hgnc.symbol:FBXO28 semapv:UnspecifiedMatching OMIM:609100 FBXO28 skos:exactMatch ncbigene:23219 semapv:UnspecifiedMatching -OMIM:609101 FBXO30 skos:exactMatch hgnc:FBXO30 semapv:UnspecifiedMatching +OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:15600 semapv:UnspecifiedMatching +OMIM:609101 FBXO30 skos:exactMatch hgnc.symbol:FBXO30 semapv:UnspecifiedMatching OMIM:609101 FBXO30 skos:exactMatch ncbigene:84085 semapv:UnspecifiedMatching -OMIM:609102 FBXO31 skos:exactMatch hgnc:FBXO31 semapv:UnspecifiedMatching +OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:16510 semapv:UnspecifiedMatching +OMIM:609102 FBXO31 skos:exactMatch hgnc.symbol:FBXO31 semapv:UnspecifiedMatching OMIM:609102 FBXO31 skos:exactMatch ncbigene:79791 semapv:UnspecifiedMatching -OMIM:609103 FBXO33 skos:exactMatch hgnc:FBXO33 semapv:UnspecifiedMatching +OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:19833 semapv:UnspecifiedMatching +OMIM:609103 FBXO33 skos:exactMatch hgnc.symbol:FBXO33 semapv:UnspecifiedMatching OMIM:609103 FBXO33 skos:exactMatch ncbigene:254170 semapv:UnspecifiedMatching -OMIM:609104 FBXO34 skos:exactMatch hgnc:FBXO34 semapv:UnspecifiedMatching +OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:20201 semapv:UnspecifiedMatching +OMIM:609104 FBXO34 skos:exactMatch hgnc.symbol:FBXO34 semapv:UnspecifiedMatching OMIM:609104 FBXO34 skos:exactMatch ncbigene:55030 semapv:UnspecifiedMatching -OMIM:609105 FBXO36 skos:exactMatch hgnc:FBXO36 semapv:UnspecifiedMatching +OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:27020 semapv:UnspecifiedMatching +OMIM:609105 FBXO36 skos:exactMatch hgnc.symbol:FBXO36 semapv:UnspecifiedMatching OMIM:609105 FBXO36 skos:exactMatch ncbigene:130888 semapv:UnspecifiedMatching -OMIM:609106 FBXO39 skos:exactMatch hgnc:FBXO39 semapv:UnspecifiedMatching +OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:28565 semapv:UnspecifiedMatching +OMIM:609106 FBXO39 skos:exactMatch hgnc.symbol:FBXO39 semapv:UnspecifiedMatching OMIM:609106 FBXO39 skos:exactMatch ncbigene:162517 semapv:UnspecifiedMatching -OMIM:609107 FBXO40 skos:exactMatch hgnc:FBXO40 semapv:UnspecifiedMatching +OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:29816 semapv:UnspecifiedMatching +OMIM:609107 FBXO40 skos:exactMatch hgnc.symbol:FBXO40 semapv:UnspecifiedMatching OMIM:609107 FBXO40 skos:exactMatch ncbigene:51725 semapv:UnspecifiedMatching -OMIM:609108 FBXO41 skos:exactMatch hgnc:FBXO41 semapv:UnspecifiedMatching +OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:29409 semapv:UnspecifiedMatching +OMIM:609108 FBXO41 skos:exactMatch hgnc.symbol:FBXO41 semapv:UnspecifiedMatching OMIM:609108 FBXO41 skos:exactMatch ncbigene:150726 semapv:UnspecifiedMatching -OMIM:609109 FBXO42 skos:exactMatch hgnc:FBXO42 semapv:UnspecifiedMatching +OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:29249 semapv:UnspecifiedMatching +OMIM:609109 FBXO42 skos:exactMatch hgnc.symbol:FBXO42 semapv:UnspecifiedMatching OMIM:609109 FBXO42 skos:exactMatch ncbigene:54455 semapv:UnspecifiedMatching -OMIM:609110 FBXO43 skos:exactMatch hgnc:FBXO43 semapv:UnspecifiedMatching +OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:28521 semapv:UnspecifiedMatching +OMIM:609110 FBXO43 skos:exactMatch hgnc.symbol:FBXO43 semapv:UnspecifiedMatching OMIM:609110 FBXO43 skos:exactMatch ncbigene:286151 semapv:UnspecifiedMatching -OMIM:609111 FBXO44 skos:exactMatch hgnc:FBXO44 semapv:UnspecifiedMatching +OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:24847 semapv:UnspecifiedMatching +OMIM:609111 FBXO44 skos:exactMatch hgnc.symbol:FBXO44 semapv:UnspecifiedMatching OMIM:609111 FBXO44 skos:exactMatch ncbigene:93611 semapv:UnspecifiedMatching -OMIM:609112 FBXO45 skos:exactMatch hgnc:FBXO45 semapv:UnspecifiedMatching +OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:29148 semapv:UnspecifiedMatching +OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:FBXO45 semapv:UnspecifiedMatching OMIM:609112 FBXO45 skos:exactMatch ncbigene:200933 semapv:UnspecifiedMatching -OMIM:609114 DSTN skos:exactMatch hgnc:DSTN semapv:UnspecifiedMatching +OMIM:609114 DSTN skos:exactMatch hgnc.symbol:15750 semapv:UnspecifiedMatching +OMIM:609114 DSTN skos:exactMatch hgnc.symbol:DSTN semapv:UnspecifiedMatching OMIM:609114 DSTN skos:exactMatch ncbigene:11034 semapv:UnspecifiedMatching OMIM:609116 respiratory rhythmicity 1n sleep skos:exactMatch UMLS:C1836764 semapv:UnspecifiedMatching -OMIM:609117 FBXO46 skos:exactMatch hgnc:FBXO46 semapv:UnspecifiedMatching +OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:25069 semapv:UnspecifiedMatching +OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:FBXO46 semapv:UnspecifiedMatching OMIM:609117 FBXO46 skos:exactMatch ncbigene:23403 semapv:UnspecifiedMatching -OMIM:609118 PDCD10 skos:exactMatch hgnc:PDCD10 semapv:UnspecifiedMatching +OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:8761 semapv:UnspecifiedMatching +OMIM:609118 PDCD10 skos:exactMatch hgnc.symbol:PDCD10 semapv:UnspecifiedMatching OMIM:609118 PDCD10 skos:exactMatch ncbigene:11235 semapv:UnspecifiedMatching -OMIM:609119 THAP11 skos:exactMatch hgnc:THAP11 semapv:UnspecifiedMatching +OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:23194 semapv:UnspecifiedMatching +OMIM:609119 THAP11 skos:exactMatch hgnc.symbol:THAP11 semapv:UnspecifiedMatching OMIM:609119 THAP11 skos:exactMatch ncbigene:57215 semapv:UnspecifiedMatching -OMIM:609120 CATSPER3 skos:exactMatch hgnc:CATSPER3 semapv:UnspecifiedMatching +OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:20819 semapv:UnspecifiedMatching +OMIM:609120 CATSPER3 skos:exactMatch hgnc.symbol:CATSPER3 semapv:UnspecifiedMatching OMIM:609120 CATSPER3 skos:exactMatch ncbigene:347732 semapv:UnspecifiedMatching -OMIM:609121 CATSPER4 skos:exactMatch hgnc:CATSPER4 semapv:UnspecifiedMatching +OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:23220 semapv:UnspecifiedMatching +OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:CATSPER4 semapv:UnspecifiedMatching OMIM:609121 CATSPER4 skos:exactMatch ncbigene:378807 semapv:UnspecifiedMatching -OMIM:609123 ATP8B4 skos:exactMatch hgnc:ATP8B4 semapv:UnspecifiedMatching +OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:13536 semapv:UnspecifiedMatching +OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:ATP8B4 semapv:UnspecifiedMatching OMIM:609123 ATP8B4 skos:exactMatch ncbigene:79895 semapv:UnspecifiedMatching -OMIM:609124 ZNF385A skos:exactMatch hgnc:ZNF385A semapv:UnspecifiedMatching +OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:17521 semapv:UnspecifiedMatching +OMIM:609124 ZNF385A skos:exactMatch hgnc.symbol:ZNF385A semapv:UnspecifiedMatching OMIM:609124 ZNF385A skos:exactMatch ncbigene:25946 semapv:UnspecifiedMatching -OMIM:609125 MOSPD3 skos:exactMatch hgnc:MOSPD3 semapv:UnspecifiedMatching +OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:25078 semapv:UnspecifiedMatching +OMIM:609125 MOSPD3 skos:exactMatch hgnc.symbol:MOSPD3 semapv:UnspecifiedMatching OMIM:609125 MOSPD3 skos:exactMatch ncbigene:64598 semapv:UnspecifiedMatching -OMIM:609126 ATP9A skos:exactMatch hgnc:ATP9A semapv:UnspecifiedMatching +OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:13540 semapv:UnspecifiedMatching +OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:ATP9A semapv:UnspecifiedMatching OMIM:609126 ATP9A skos:exactMatch ncbigene:10079 semapv:UnspecifiedMatching -OMIM:609130 CENPS skos:exactMatch hgnc:CENPS semapv:UnspecifiedMatching +OMIM:609130 CENPS skos:exactMatch hgnc.symbol:23163 semapv:UnspecifiedMatching +OMIM:609130 CENPS skos:exactMatch hgnc.symbol:CENPS semapv:UnspecifiedMatching OMIM:609130 CENPS skos:exactMatch ncbigene:378708 semapv:UnspecifiedMatching -OMIM:609131 CLDN7 skos:exactMatch hgnc:CLDN7 semapv:UnspecifiedMatching +OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:2049 semapv:UnspecifiedMatching +OMIM:609131 CLDN7 skos:exactMatch hgnc.symbol:CLDN7 semapv:UnspecifiedMatching OMIM:609131 CLDN7 skos:exactMatch ncbigene:1366 semapv:UnspecifiedMatching -OMIM:609132 KDM1A skos:exactMatch hgnc:KDM1A semapv:UnspecifiedMatching +OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:29079 semapv:UnspecifiedMatching +OMIM:609132 KDM1A skos:exactMatch hgnc.symbol:KDM1A semapv:UnspecifiedMatching OMIM:609132 KDM1A skos:exactMatch ncbigene:23028 semapv:UnspecifiedMatching -OMIM:609133 FIZ1 skos:exactMatch hgnc:FIZ1 semapv:UnspecifiedMatching +OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:25917 semapv:UnspecifiedMatching +OMIM:609133 FIZ1 skos:exactMatch hgnc.symbol:FIZ1 semapv:UnspecifiedMatching OMIM:609133 FIZ1 skos:exactMatch ncbigene:84922 semapv:UnspecifiedMatching OMIM:609134 UBR2 skos:exactMatch UMLS:C1540154 semapv:UnspecifiedMatching -OMIM:609134 UBR2 skos:exactMatch hgnc:UBR2 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:21289 semapv:UnspecifiedMatching +OMIM:609134 UBR2 skos:exactMatch hgnc.symbol:UBR2 semapv:UnspecifiedMatching OMIM:609134 UBR2 skos:exactMatch ncbigene:23304 semapv:UnspecifiedMatching -OMIM:609137 RTP1 skos:exactMatch hgnc:RTP1 semapv:UnspecifiedMatching +OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:28580 semapv:UnspecifiedMatching +OMIM:609137 RTP1 skos:exactMatch hgnc.symbol:RTP1 semapv:UnspecifiedMatching OMIM:609137 RTP1 skos:exactMatch ncbigene:132112 semapv:UnspecifiedMatching -OMIM:609138 RTP2 skos:exactMatch hgnc:RTP2 semapv:UnspecifiedMatching +OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:32486 semapv:UnspecifiedMatching +OMIM:609138 RTP2 skos:exactMatch hgnc.symbol:RTP2 semapv:UnspecifiedMatching OMIM:609138 RTP2 skos:exactMatch ncbigene:344892 semapv:UnspecifiedMatching -OMIM:609139 REEP1 skos:exactMatch hgnc:REEP1 semapv:UnspecifiedMatching +OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:25786 semapv:UnspecifiedMatching +OMIM:609139 REEP1 skos:exactMatch hgnc.symbol:REEP1 semapv:UnspecifiedMatching OMIM:609139 REEP1 skos:exactMatch ncbigene:65055 semapv:UnspecifiedMatching -OMIM:609142 CEACAM3 skos:exactMatch hgnc:CEACAM3 semapv:UnspecifiedMatching +OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:1815 semapv:UnspecifiedMatching +OMIM:609142 CEACAM3 skos:exactMatch hgnc.symbol:CEACAM3 semapv:UnspecifiedMatching OMIM:609142 CEACAM3 skos:exactMatch ncbigene:1084 semapv:UnspecifiedMatching -OMIM:609144 FLVCR1 skos:exactMatch hgnc:FLVCR1 semapv:UnspecifiedMatching +OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:24682 semapv:UnspecifiedMatching +OMIM:609144 FLVCR1 skos:exactMatch hgnc.symbol:FLVCR1 semapv:UnspecifiedMatching OMIM:609144 FLVCR1 skos:exactMatch ncbigene:28982 semapv:UnspecifiedMatching OMIM:609145 NFASC skos:exactMatch UMLS:C1826398 semapv:UnspecifiedMatching OMIM:609145 NFASC skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching -OMIM:609145 NFASC skos:exactMatch hgnc:NFASC semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch hgnc.symbol:29866 semapv:UnspecifiedMatching +OMIM:609145 NFASC skos:exactMatch hgnc.symbol:NFASC semapv:UnspecifiedMatching OMIM:609145 NFASC skos:exactMatch ncbigene:23114 semapv:UnspecifiedMatching -OMIM:609146 RIC8A skos:exactMatch hgnc:RIC8A semapv:UnspecifiedMatching +OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:29550 semapv:UnspecifiedMatching +OMIM:609146 RIC8A skos:exactMatch hgnc.symbol:RIC8A semapv:UnspecifiedMatching OMIM:609146 RIC8A skos:exactMatch ncbigene:60626 semapv:UnspecifiedMatching -OMIM:609147 RIC8B skos:exactMatch hgnc:RIC8B semapv:UnspecifiedMatching +OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:25555 semapv:UnspecifiedMatching +OMIM:609147 RIC8B skos:exactMatch hgnc.symbol:RIC8B semapv:UnspecifiedMatching OMIM:609147 RIC8B skos:exactMatch ncbigene:55188 semapv:UnspecifiedMatching -OMIM:609149 SLC29A4 skos:exactMatch hgnc:SLC29A4 semapv:UnspecifiedMatching +OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:23097 semapv:UnspecifiedMatching +OMIM:609149 SLC29A4 skos:exactMatch hgnc.symbol:SLC29A4 semapv:UnspecifiedMatching OMIM:609149 SLC29A4 skos:exactMatch ncbigene:222962 semapv:UnspecifiedMatching -OMIM:609150 CXXC1 skos:exactMatch hgnc:CXXC1 semapv:UnspecifiedMatching +OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:24343 semapv:UnspecifiedMatching +OMIM:609150 CXXC1 skos:exactMatch hgnc.symbol:CXXC1 semapv:UnspecifiedMatching OMIM:609150 CXXC1 skos:exactMatch ncbigene:30827 semapv:UnspecifiedMatching -OMIM:609151 UBXN11 skos:exactMatch hgnc:UBXN11 semapv:UnspecifiedMatching +OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:30600 semapv:UnspecifiedMatching +OMIM:609151 UBXN11 skos:exactMatch hgnc.symbol:UBXN11 semapv:UnspecifiedMatching OMIM:609151 UBXN11 skos:exactMatch ncbigene:91544 semapv:UnspecifiedMatching -OMIM:609154 ASCL3 skos:exactMatch hgnc:ASCL3 semapv:UnspecifiedMatching +OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:740 semapv:UnspecifiedMatching +OMIM:609154 ASCL3 skos:exactMatch hgnc.symbol:ASCL3 semapv:UnspecifiedMatching OMIM:609154 ASCL3 skos:exactMatch ncbigene:56676 semapv:UnspecifiedMatching -OMIM:609155 ASCL4 skos:exactMatch hgnc:ASCL4 semapv:UnspecifiedMatching +OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:24311 semapv:UnspecifiedMatching +OMIM:609155 ASCL4 skos:exactMatch hgnc.symbol:ASCL4 semapv:UnspecifiedMatching OMIM:609155 ASCL4 skos:exactMatch ncbigene:121549 semapv:UnspecifiedMatching -OMIM:609156 NCLN skos:exactMatch hgnc:NCLN semapv:UnspecifiedMatching +OMIM:609156 NCLN skos:exactMatch hgnc.symbol:26923 semapv:UnspecifiedMatching +OMIM:609156 NCLN skos:exactMatch hgnc.symbol:NCLN semapv:UnspecifiedMatching OMIM:609156 NCLN skos:exactMatch ncbigene:56926 semapv:UnspecifiedMatching -OMIM:609157 NOMO1 skos:exactMatch hgnc:NOMO1 semapv:UnspecifiedMatching +OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:30060 semapv:UnspecifiedMatching +OMIM:609157 NOMO1 skos:exactMatch hgnc.symbol:NOMO1 semapv:UnspecifiedMatching OMIM:609157 NOMO1 skos:exactMatch ncbigene:23420 semapv:UnspecifiedMatching -OMIM:609158 NOMO2 skos:exactMatch hgnc:NOMO2 semapv:UnspecifiedMatching +OMIM:609158 NOMO2 skos:exactMatch hgnc.symbol:22652 semapv:UnspecifiedMatching +OMIM:609158 NOMO2 skos:exactMatch hgnc.symbol:NOMO2 semapv:UnspecifiedMatching OMIM:609158 NOMO2 skos:exactMatch ncbigene:283820 semapv:UnspecifiedMatching -OMIM:609159 NOMO3 skos:exactMatch hgnc:NOMO3 semapv:UnspecifiedMatching +OMIM:609159 NOMO3 skos:exactMatch hgnc.symbol:25242 semapv:UnspecifiedMatching +OMIM:609159 NOMO3 skos:exactMatch hgnc.symbol:NOMO3 semapv:UnspecifiedMatching OMIM:609159 NOMO3 skos:exactMatch ncbigene:408050 semapv:UnspecifiedMatching -OMIM:609163 HCAR2 skos:exactMatch hgnc:HCAR2 semapv:UnspecifiedMatching +OMIM:609163 HCAR2 skos:exactMatch hgnc.symbol:24827 semapv:UnspecifiedMatching +OMIM:609163 HCAR2 skos:exactMatch hgnc.symbol:HCAR2 semapv:UnspecifiedMatching OMIM:609163 HCAR2 skos:exactMatch ncbigene:338442 semapv:UnspecifiedMatching -OMIM:609168 SGOL1 skos:exactMatch hgnc:SGO1 semapv:UnspecifiedMatching +OMIM:609168 SGOL1 skos:exactMatch hgnc.symbol:25088 semapv:UnspecifiedMatching +OMIM:609168 SGOL1 skos:exactMatch hgnc.symbol:SGO1 semapv:UnspecifiedMatching OMIM:609168 SGOL1 skos:exactMatch ncbigene:151648 semapv:UnspecifiedMatching -OMIM:609169 GAPDHS skos:exactMatch hgnc:GAPDHS semapv:UnspecifiedMatching +OMIM:609169 GAPDHS skos:exactMatch hgnc.symbol:24864 semapv:UnspecifiedMatching +OMIM:609169 GAPDHS skos:exactMatch hgnc.symbol:GAPDHS semapv:UnspecifiedMatching OMIM:609169 GAPDHS skos:exactMatch ncbigene:26330 semapv:UnspecifiedMatching -OMIM:609170 TXNDC4 skos:exactMatch hgnc:ERP44 semapv:UnspecifiedMatching +OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:18311 semapv:UnspecifiedMatching +OMIM:609170 TXNDC4 skos:exactMatch hgnc.symbol:ERP44 semapv:UnspecifiedMatching OMIM:609170 TXNDC4 skos:exactMatch ncbigene:23071 semapv:UnspecifiedMatching -OMIM:609171 CDC42EP5 skos:exactMatch hgnc:CDC42EP5 semapv:UnspecifiedMatching +OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:17408 semapv:UnspecifiedMatching +OMIM:609171 CDC42EP5 skos:exactMatch hgnc.symbol:CDC42EP5 semapv:UnspecifiedMatching OMIM:609171 CDC42EP5 skos:exactMatch ncbigene:148170 semapv:UnspecifiedMatching -OMIM:609172 PPP1R16A skos:exactMatch hgnc:PPP1R16A semapv:UnspecifiedMatching +OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:14941 semapv:UnspecifiedMatching +OMIM:609172 PPP1R16A skos:exactMatch hgnc.symbol:PPP1R16A semapv:UnspecifiedMatching OMIM:609172 PPP1R16A skos:exactMatch ncbigene:84988 semapv:UnspecifiedMatching -OMIM:609173 KNL1 skos:exactMatch hgnc:KNL1 semapv:UnspecifiedMatching +OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:24054 semapv:UnspecifiedMatching +OMIM:609173 KNL1 skos:exactMatch hgnc.symbol:KNL1 semapv:UnspecifiedMatching OMIM:609173 KNL1 skos:exactMatch ncbigene:57082 semapv:UnspecifiedMatching -OMIM:609174 NSL1 skos:exactMatch hgnc:NSL1 semapv:UnspecifiedMatching +OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:24548 semapv:UnspecifiedMatching +OMIM:609174 NSL1 skos:exactMatch hgnc.symbol:NSL1 semapv:UnspecifiedMatching OMIM:609174 NSL1 skos:exactMatch ncbigene:25936 semapv:UnspecifiedMatching -OMIM:609175 DSN1 skos:exactMatch hgnc:DSN1 semapv:UnspecifiedMatching +OMIM:609175 DSN1 skos:exactMatch hgnc.symbol:16165 semapv:UnspecifiedMatching +OMIM:609175 DSN1 skos:exactMatch hgnc.symbol:DSN1 semapv:UnspecifiedMatching OMIM:609175 DSN1 skos:exactMatch ncbigene:79980 semapv:UnspecifiedMatching -OMIM:609176 PMF1 skos:exactMatch hgnc:PMF1 semapv:UnspecifiedMatching +OMIM:609176 PMF1 skos:exactMatch hgnc.symbol:9112 semapv:UnspecifiedMatching +OMIM:609176 PMF1 skos:exactMatch hgnc.symbol:PMF1 semapv:UnspecifiedMatching OMIM:609176 PMF1 skos:exactMatch ncbigene:11243 semapv:UnspecifiedMatching -OMIM:609177 ZWINT skos:exactMatch hgnc:ZWINT semapv:UnspecifiedMatching +OMIM:609177 ZWINT skos:exactMatch hgnc.symbol:13195 semapv:UnspecifiedMatching +OMIM:609177 ZWINT skos:exactMatch hgnc.symbol:ZWINT semapv:UnspecifiedMatching OMIM:609177 ZWINT skos:exactMatch ncbigene:11130 semapv:UnspecifiedMatching -OMIM:609178 MIS12 skos:exactMatch hgnc:MIS12 semapv:UnspecifiedMatching +OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:24967 semapv:UnspecifiedMatching +OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:MIS12 semapv:UnspecifiedMatching OMIM:609178 MIS12 skos:exactMatch ncbigene:79003 semapv:UnspecifiedMatching -OMIM:609181 DYRK4 skos:exactMatch hgnc:DYRK4 semapv:UnspecifiedMatching +OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:3095 semapv:UnspecifiedMatching +OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:DYRK4 semapv:UnspecifiedMatching OMIM:609181 DYRK4 skos:exactMatch ncbigene:8798 semapv:UnspecifiedMatching -OMIM:609182 SLC35D2 skos:exactMatch hgnc:SLC35D2 semapv:UnspecifiedMatching +OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:20799 semapv:UnspecifiedMatching +OMIM:609182 SLC35D2 skos:exactMatch hgnc.symbol:SLC35D2 semapv:UnspecifiedMatching OMIM:609182 SLC35D2 skos:exactMatch ncbigene:11046 semapv:UnspecifiedMatching -OMIM:609183 AURKAIP1 skos:exactMatch hgnc:AURKAIP1 semapv:UnspecifiedMatching +OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:24114 semapv:UnspecifiedMatching +OMIM:609183 AURKAIP1 skos:exactMatch hgnc.symbol:AURKAIP1 semapv:UnspecifiedMatching OMIM:609183 AURKAIP1 skos:exactMatch ncbigene:54998 semapv:UnspecifiedMatching -OMIM:609184 KIF4B skos:exactMatch hgnc:KIF4B semapv:UnspecifiedMatching +OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:6322 semapv:UnspecifiedMatching +OMIM:609184 KIF4B skos:exactMatch hgnc.symbol:KIF4B semapv:UnspecifiedMatching OMIM:609184 KIF4B skos:exactMatch ncbigene:285643 semapv:UnspecifiedMatching -OMIM:609185 ZHX2 skos:exactMatch hgnc:ZHX2 semapv:UnspecifiedMatching +OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:18513 semapv:UnspecifiedMatching +OMIM:609185 ZHX2 skos:exactMatch hgnc.symbol:ZHX2 semapv:UnspecifiedMatching OMIM:609185 ZHX2 skos:exactMatch ncbigene:22882 semapv:UnspecifiedMatching -OMIM:609186 D2HGDH skos:exactMatch hgnc:D2HGDH semapv:UnspecifiedMatching +OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:28358 semapv:UnspecifiedMatching +OMIM:609186 D2HGDH skos:exactMatch hgnc.symbol:D2HGDH semapv:UnspecifiedMatching OMIM:609186 D2HGDH skos:exactMatch ncbigene:728294 semapv:UnspecifiedMatching OMIM:609187 SUGCT skos:exactMatch UMLS:C0342873 semapv:UnspecifiedMatching OMIM:609187 SUGCT skos:exactMatch UMLS:C1423901 semapv:UnspecifiedMatching -OMIM:609187 SUGCT skos:exactMatch hgnc:SUGCT semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:16001 semapv:UnspecifiedMatching +OMIM:609187 SUGCT skos:exactMatch hgnc.symbol:SUGCT semapv:UnspecifiedMatching OMIM:609187 SUGCT skos:exactMatch ncbigene:79783 semapv:UnspecifiedMatching OMIM:609188 MPLKIP skos:exactMatch UMLS:C1313961 semapv:UnspecifiedMatching OMIM:609188 MPLKIP skos:exactMatch UMLS:C1423902 semapv:UnspecifiedMatching -OMIM:609188 MPLKIP skos:exactMatch hgnc:MPLKIP semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:16002 semapv:UnspecifiedMatching +OMIM:609188 MPLKIP skos:exactMatch hgnc.symbol:MPLKIP semapv:UnspecifiedMatching OMIM:609188 MPLKIP skos:exactMatch ncbigene:136647 semapv:UnspecifiedMatching OMIM:609189 ASF1A skos:exactMatch UMLS:C1427233 semapv:UnspecifiedMatching -OMIM:609189 ASF1A skos:exactMatch hgnc:ASF1A semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:20995 semapv:UnspecifiedMatching +OMIM:609189 ASF1A skos:exactMatch hgnc.symbol:ASF1A semapv:UnspecifiedMatching OMIM:609189 ASF1A skos:exactMatch ncbigene:25842 semapv:UnspecifiedMatching OMIM:609190 ASF1B skos:exactMatch UMLS:C1427234 semapv:UnspecifiedMatching -OMIM:609190 ASF1B skos:exactMatch hgnc:ASF1B semapv:UnspecifiedMatching +OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:20996 semapv:UnspecifiedMatching +OMIM:609190 ASF1B skos:exactMatch hgnc.symbol:ASF1B semapv:UnspecifiedMatching OMIM:609190 ASF1B skos:exactMatch ncbigene:55723 semapv:UnspecifiedMatching -OMIM:609191 AKIP1 skos:exactMatch hgnc:AKIP1 semapv:UnspecifiedMatching +OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:1170 semapv:UnspecifiedMatching +OMIM:609191 AKIP1 skos:exactMatch hgnc.symbol:AKIP1 semapv:UnspecifiedMatching OMIM:609191 AKIP1 skos:exactMatch ncbigene:56672 semapv:UnspecifiedMatching -OMIM:609193 LRR1 skos:exactMatch hgnc:LRR1 semapv:UnspecifiedMatching +OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:19742 semapv:UnspecifiedMatching +OMIM:609193 LRR1 skos:exactMatch hgnc.symbol:LRR1 semapv:UnspecifiedMatching OMIM:609193 LRR1 skos:exactMatch ncbigene:122769 semapv:UnspecifiedMatching -OMIM:609194 CABLES1 skos:exactMatch hgnc:CABLES1 semapv:UnspecifiedMatching +OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:25097 semapv:UnspecifiedMatching +OMIM:609194 CABLES1 skos:exactMatch hgnc.symbol:CABLES1 semapv:UnspecifiedMatching OMIM:609194 CABLES1 skos:exactMatch ncbigene:91768 semapv:UnspecifiedMatching -OMIM:609196 MRAP skos:exactMatch hgnc:MRAP semapv:UnspecifiedMatching +OMIM:609196 MRAP skos:exactMatch hgnc.symbol:1304 semapv:UnspecifiedMatching +OMIM:609196 MRAP skos:exactMatch hgnc.symbol:MRAP semapv:UnspecifiedMatching OMIM:609196 MRAP skos:exactMatch ncbigene:56246 semapv:UnspecifiedMatching -OMIM:609198 ADAMTSL1 skos:exactMatch hgnc:ADAMTSL1 semapv:UnspecifiedMatching +OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:14632 semapv:UnspecifiedMatching +OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:ADAMTSL1 semapv:UnspecifiedMatching OMIM:609198 ADAMTSL1 skos:exactMatch ncbigene:92949 semapv:UnspecifiedMatching -OMIM:609199 ADAMTSL3 skos:exactMatch hgnc:ADAMTSL3 semapv:UnspecifiedMatching +OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:14633 semapv:UnspecifiedMatching +OMIM:609199 ADAMTSL3 skos:exactMatch hgnc.symbol:ADAMTSL3 semapv:UnspecifiedMatching OMIM:609199 ADAMTSL3 skos:exactMatch ncbigene:57188 semapv:UnspecifiedMatching -OMIM:609201 UBASH3B skos:exactMatch hgnc:UBASH3B semapv:UnspecifiedMatching +OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:29884 semapv:UnspecifiedMatching +OMIM:609201 UBASH3B skos:exactMatch hgnc.symbol:UBASH3B semapv:UnspecifiedMatching OMIM:609201 UBASH3B skos:exactMatch ncbigene:84959 semapv:UnspecifiedMatching -OMIM:609202 SCGN skos:exactMatch hgnc:SCGN semapv:UnspecifiedMatching +OMIM:609202 SCGN skos:exactMatch hgnc.symbol:16941 semapv:UnspecifiedMatching +OMIM:609202 SCGN skos:exactMatch hgnc.symbol:SCGN semapv:UnspecifiedMatching OMIM:609202 SCGN skos:exactMatch ncbigene:10590 semapv:UnspecifiedMatching -OMIM:609203 CLDN23 skos:exactMatch hgnc:CLDN23 semapv:UnspecifiedMatching +OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:17591 semapv:UnspecifiedMatching +OMIM:609203 CLDN23 skos:exactMatch hgnc.symbol:CLDN23 semapv:UnspecifiedMatching OMIM:609203 CLDN23 skos:exactMatch ncbigene:137075 semapv:UnspecifiedMatching -OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc:MRPS16 semapv:UnspecifiedMatching +OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:14048 semapv:UnspecifiedMatching +OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch hgnc.symbol:MRPS16 semapv:UnspecifiedMatching OMIM:609204 mitochondrial ribosomal protein s16: mrps16 skos:exactMatch ncbigene:51021 semapv:UnspecifiedMatching -OMIM:609205 DAB2IP skos:exactMatch hgnc:DAB2IP semapv:UnspecifiedMatching +OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:17294 semapv:UnspecifiedMatching +OMIM:609205 DAB2IP skos:exactMatch hgnc.symbol:DAB2IP semapv:UnspecifiedMatching OMIM:609205 DAB2IP skos:exactMatch ncbigene:153090 semapv:UnspecifiedMatching -OMIM:609206 EEF1E1 skos:exactMatch hgnc:EEF1E1 semapv:UnspecifiedMatching +OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:3212 semapv:UnspecifiedMatching +OMIM:609206 EEF1E1 skos:exactMatch hgnc.symbol:EEF1E1 semapv:UnspecifiedMatching OMIM:609206 EEF1E1 skos:exactMatch ncbigene:9521 semapv:UnspecifiedMatching -OMIM:609207 MREG skos:exactMatch hgnc:MREG semapv:UnspecifiedMatching +OMIM:609207 MREG skos:exactMatch hgnc.symbol:25478 semapv:UnspecifiedMatching +OMIM:609207 MREG skos:exactMatch hgnc.symbol:MREG semapv:UnspecifiedMatching OMIM:609207 MREG skos:exactMatch ncbigene:55686 semapv:UnspecifiedMatching -OMIM:609208 KAZALD1 skos:exactMatch hgnc:KAZALD1 semapv:UnspecifiedMatching +OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:25460 semapv:UnspecifiedMatching +OMIM:609208 KAZALD1 skos:exactMatch hgnc.symbol:KAZALD1 semapv:UnspecifiedMatching OMIM:609208 KAZALD1 skos:exactMatch ncbigene:81621 semapv:UnspecifiedMatching OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C1424660 semapv:UnspecifiedMatching OMIM:609209 IVNS1ABP skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching -OMIM:609209 IVNS1ABP skos:exactMatch hgnc:IVNS1ABP semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:16951 semapv:UnspecifiedMatching +OMIM:609209 IVNS1ABP skos:exactMatch hgnc.symbol:IVNS1ABP semapv:UnspecifiedMatching OMIM:609209 IVNS1ABP skos:exactMatch ncbigene:10625 semapv:UnspecifiedMatching -OMIM:609210 CLDN18 skos:exactMatch hgnc:CLDN18 semapv:UnspecifiedMatching +OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:2039 semapv:UnspecifiedMatching +OMIM:609210 CLDN18 skos:exactMatch hgnc.symbol:CLDN18 semapv:UnspecifiedMatching OMIM:609210 CLDN18 skos:exactMatch ncbigene:51208 semapv:UnspecifiedMatching -OMIM:609211 MYL12B skos:exactMatch hgnc:MYL12B semapv:UnspecifiedMatching +OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:29827 semapv:UnspecifiedMatching +OMIM:609211 MYL12B skos:exactMatch hgnc.symbol:MYL12B semapv:UnspecifiedMatching OMIM:609211 MYL12B skos:exactMatch ncbigene:103910 semapv:UnspecifiedMatching -OMIM:609212 ASRGL1 skos:exactMatch hgnc:ASRGL1 semapv:UnspecifiedMatching +OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:16448 semapv:UnspecifiedMatching +OMIM:609212 ASRGL1 skos:exactMatch hgnc.symbol:ASRGL1 semapv:UnspecifiedMatching OMIM:609212 ASRGL1 skos:exactMatch ncbigene:80150 semapv:UnspecifiedMatching -OMIM:609213 SEC61A1 skos:exactMatch hgnc:SEC61A1 semapv:UnspecifiedMatching +OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:18276 semapv:UnspecifiedMatching +OMIM:609213 SEC61A1 skos:exactMatch hgnc.symbol:SEC61A1 semapv:UnspecifiedMatching OMIM:609213 SEC61A1 skos:exactMatch ncbigene:29927 semapv:UnspecifiedMatching -OMIM:609214 SEC61B skos:exactMatch hgnc:SEC61B semapv:UnspecifiedMatching +OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:16993 semapv:UnspecifiedMatching +OMIM:609214 SEC61B skos:exactMatch hgnc.symbol:SEC61B semapv:UnspecifiedMatching OMIM:609214 SEC61B skos:exactMatch ncbigene:10952 semapv:UnspecifiedMatching -OMIM:609215 SEC61G skos:exactMatch hgnc:SEC61G semapv:UnspecifiedMatching +OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:18277 semapv:UnspecifiedMatching +OMIM:609215 SEC61G skos:exactMatch hgnc.symbol:SEC61G semapv:UnspecifiedMatching OMIM:609215 SEC61G skos:exactMatch ncbigene:23480 semapv:UnspecifiedMatching OMIM:609216 SPIRE1 skos:exactMatch UMLS:C1539844 semapv:UnspecifiedMatching -OMIM:609216 SPIRE1 skos:exactMatch hgnc:SPIRE1 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:30622 semapv:UnspecifiedMatching +OMIM:609216 SPIRE1 skos:exactMatch hgnc.symbol:SPIRE1 semapv:UnspecifiedMatching OMIM:609216 SPIRE1 skos:exactMatch ncbigene:56907 semapv:UnspecifiedMatching OMIM:609217 SPIRE2 skos:exactMatch UMLS:C1539845 semapv:UnspecifiedMatching -OMIM:609217 SPIRE2 skos:exactMatch hgnc:SPIRE2 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:30623 semapv:UnspecifiedMatching +OMIM:609217 SPIRE2 skos:exactMatch hgnc.symbol:SPIRE2 semapv:UnspecifiedMatching OMIM:609217 SPIRE2 skos:exactMatch ncbigene:84501 semapv:UnspecifiedMatching -OMIM:609219 NUDT14 skos:exactMatch hgnc:NUDT14 semapv:UnspecifiedMatching +OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:20141 semapv:UnspecifiedMatching +OMIM:609219 NUDT14 skos:exactMatch hgnc.symbol:NUDT14 semapv:UnspecifiedMatching OMIM:609219 NUDT14 skos:exactMatch ncbigene:256281 semapv:UnspecifiedMatching -OMIM:609221 NAT10 skos:exactMatch hgnc:NAT10 semapv:UnspecifiedMatching +OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:29830 semapv:UnspecifiedMatching +OMIM:609221 NAT10 skos:exactMatch hgnc.symbol:NAT10 semapv:UnspecifiedMatching OMIM:609221 NAT10 skos:exactMatch ncbigene:55226 semapv:UnspecifiedMatching OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:exactMatch UMLS:C2674987 semapv:UnspecifiedMatching -OMIM:609224 WIPI1 skos:exactMatch hgnc:WIPI1 semapv:UnspecifiedMatching +OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:25471 semapv:UnspecifiedMatching +OMIM:609224 WIPI1 skos:exactMatch hgnc.symbol:WIPI1 semapv:UnspecifiedMatching OMIM:609224 WIPI1 skos:exactMatch ncbigene:55062 semapv:UnspecifiedMatching -OMIM:609225 WIPI2 skos:exactMatch hgnc:WIPI2 semapv:UnspecifiedMatching +OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:32225 semapv:UnspecifiedMatching +OMIM:609225 WIPI2 skos:exactMatch hgnc.symbol:WIPI2 semapv:UnspecifiedMatching OMIM:609225 WIPI2 skos:exactMatch ncbigene:26100 semapv:UnspecifiedMatching -OMIM:609226 WDR45B skos:exactMatch hgnc:WDR45B semapv:UnspecifiedMatching +OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:25072 semapv:UnspecifiedMatching +OMIM:609226 WDR45B skos:exactMatch hgnc.symbol:WDR45B semapv:UnspecifiedMatching OMIM:609226 WDR45B skos:exactMatch ncbigene:56270 semapv:UnspecifiedMatching -OMIM:609228 NUDT3 skos:exactMatch hgnc:NUDT3 semapv:UnspecifiedMatching +OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:8050 semapv:UnspecifiedMatching +OMIM:609228 NUDT3 skos:exactMatch hgnc.symbol:NUDT3 semapv:UnspecifiedMatching OMIM:609228 NUDT3 skos:exactMatch ncbigene:11165 semapv:UnspecifiedMatching -OMIM:609229 NUDT4 skos:exactMatch hgnc:NUDT4 semapv:UnspecifiedMatching +OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:8051 semapv:UnspecifiedMatching +OMIM:609229 NUDT4 skos:exactMatch hgnc.symbol:NUDT4 semapv:UnspecifiedMatching OMIM:609229 NUDT4 skos:exactMatch ncbigene:11163 semapv:UnspecifiedMatching -OMIM:609230 NUDT5 skos:exactMatch hgnc:NUDT5 semapv:UnspecifiedMatching +OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:8052 semapv:UnspecifiedMatching +OMIM:609230 NUDT5 skos:exactMatch hgnc.symbol:NUDT5 semapv:UnspecifiedMatching OMIM:609230 NUDT5 skos:exactMatch ncbigene:11164 semapv:UnspecifiedMatching -OMIM:609231 NUDT7 skos:exactMatch hgnc:NUDT7 semapv:UnspecifiedMatching +OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:8054 semapv:UnspecifiedMatching +OMIM:609231 NUDT7 skos:exactMatch hgnc.symbol:NUDT7 semapv:UnspecifiedMatching OMIM:609231 NUDT7 skos:exactMatch ncbigene:283927 semapv:UnspecifiedMatching -OMIM:609232 NUDT12 skos:exactMatch hgnc:NUDT12 semapv:UnspecifiedMatching +OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:18826 semapv:UnspecifiedMatching +OMIM:609232 NUDT12 skos:exactMatch hgnc.symbol:NUDT12 semapv:UnspecifiedMatching OMIM:609232 NUDT12 skos:exactMatch ncbigene:83594 semapv:UnspecifiedMatching -OMIM:609233 NUDT13 skos:exactMatch hgnc:NUDT13 semapv:UnspecifiedMatching +OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:18827 semapv:UnspecifiedMatching +OMIM:609233 NUDT13 skos:exactMatch hgnc.symbol:NUDT13 semapv:UnspecifiedMatching OMIM:609233 NUDT13 skos:exactMatch ncbigene:25961 semapv:UnspecifiedMatching -OMIM:609234 EIF2A skos:exactMatch hgnc:EIF2A semapv:UnspecifiedMatching +OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:3254 semapv:UnspecifiedMatching +OMIM:609234 EIF2A skos:exactMatch hgnc.symbol:EIF2A semapv:UnspecifiedMatching OMIM:609234 EIF2A skos:exactMatch ncbigene:83939 semapv:UnspecifiedMatching -OMIM:609235 BRSK1 skos:exactMatch hgnc:BRSK1 semapv:UnspecifiedMatching +OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:18994 semapv:UnspecifiedMatching +OMIM:609235 BRSK1 skos:exactMatch hgnc.symbol:BRSK1 semapv:UnspecifiedMatching OMIM:609235 BRSK1 skos:exactMatch ncbigene:84446 semapv:UnspecifiedMatching -OMIM:609236 BRSK2 skos:exactMatch hgnc:BRSK2 semapv:UnspecifiedMatching +OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:11405 semapv:UnspecifiedMatching +OMIM:609236 BRSK2 skos:exactMatch hgnc.symbol:BRSK2 semapv:UnspecifiedMatching OMIM:609236 BRSK2 skos:exactMatch ncbigene:9024 semapv:UnspecifiedMatching -OMIM:609237 IQCB1 skos:exactMatch hgnc:IQCB1 semapv:UnspecifiedMatching +OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:28949 semapv:UnspecifiedMatching +OMIM:609237 IQCB1 skos:exactMatch hgnc.symbol:IQCB1 semapv:UnspecifiedMatching OMIM:609237 IQCB1 skos:exactMatch ncbigene:9657 semapv:UnspecifiedMatching -OMIM:609238 RABGAP1L skos:exactMatch hgnc:RABGAP1L semapv:UnspecifiedMatching +OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:24663 semapv:UnspecifiedMatching +OMIM:609238 RABGAP1L skos:exactMatch hgnc.symbol:RABGAP1L semapv:UnspecifiedMatching OMIM:609238 RABGAP1L skos:exactMatch ncbigene:9910 semapv:UnspecifiedMatching -OMIM:609239 LPAR6 skos:exactMatch hgnc:LPAR6 semapv:UnspecifiedMatching +OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:15520 semapv:UnspecifiedMatching +OMIM:609239 LPAR6 skos:exactMatch hgnc.symbol:LPAR6 semapv:UnspecifiedMatching OMIM:609239 LPAR6 skos:exactMatch ncbigene:10161 semapv:UnspecifiedMatching -OMIM:609240 HASPIN skos:exactMatch hgnc:HASPIN semapv:UnspecifiedMatching +OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:19682 semapv:UnspecifiedMatching +OMIM:609240 HASPIN skos:exactMatch hgnc.symbol:HASPIN semapv:UnspecifiedMatching OMIM:609240 HASPIN skos:exactMatch ncbigene:83903 semapv:UnspecifiedMatching -OMIM:609243 RAET1E skos:exactMatch hgnc:RAET1E semapv:UnspecifiedMatching +OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:16793 semapv:UnspecifiedMatching +OMIM:609243 RAET1E skos:exactMatch hgnc.symbol:RAET1E semapv:UnspecifiedMatching OMIM:609243 RAET1E skos:exactMatch ncbigene:135250 semapv:UnspecifiedMatching -OMIM:609244 RAET1G skos:exactMatch hgnc:RAET1G semapv:UnspecifiedMatching +OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:16795 semapv:UnspecifiedMatching +OMIM:609244 RAET1G skos:exactMatch hgnc.symbol:RAET1G semapv:UnspecifiedMatching OMIM:609244 RAET1G skos:exactMatch ncbigene:353091 semapv:UnspecifiedMatching -OMIM:609245 GPSM2 skos:exactMatch hgnc:GPSM2 semapv:UnspecifiedMatching +OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:29501 semapv:UnspecifiedMatching +OMIM:609245 GPSM2 skos:exactMatch hgnc.symbol:GPSM2 semapv:UnspecifiedMatching OMIM:609245 GPSM2 skos:exactMatch ncbigene:29899 semapv:UnspecifiedMatching -OMIM:609246 PDXP skos:exactMatch hgnc:PDXP semapv:UnspecifiedMatching +OMIM:609246 PDXP skos:exactMatch hgnc.symbol:30259 semapv:UnspecifiedMatching +OMIM:609246 PDXP skos:exactMatch hgnc.symbol:PDXP semapv:UnspecifiedMatching OMIM:609246 PDXP skos:exactMatch ncbigene:57026 semapv:UnspecifiedMatching OMIM:609247 RNF13 skos:exactMatch UMLS:C1419415 semapv:UnspecifiedMatching OMIM:609247 RNF13 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching -OMIM:609247 RNF13 skos:exactMatch hgnc:RNF13 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:10057 semapv:UnspecifiedMatching +OMIM:609247 RNF13 skos:exactMatch hgnc.symbol:RNF13 semapv:UnspecifiedMatching OMIM:609247 RNF13 skos:exactMatch ncbigene:11342 semapv:UnspecifiedMatching -OMIM:609248 HERC4 skos:exactMatch hgnc:HERC4 semapv:UnspecifiedMatching +OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:24521 semapv:UnspecifiedMatching +OMIM:609248 HERC4 skos:exactMatch hgnc.symbol:HERC4 semapv:UnspecifiedMatching OMIM:609248 HERC4 skos:exactMatch ncbigene:26091 semapv:UnspecifiedMatching -OMIM:609249 HERC6 skos:exactMatch hgnc:HERC6 semapv:UnspecifiedMatching +OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:26072 semapv:UnspecifiedMatching +OMIM:609249 HERC6 skos:exactMatch hgnc.symbol:HERC6 semapv:UnspecifiedMatching OMIM:609249 HERC6 skos:exactMatch ncbigene:55008 semapv:UnspecifiedMatching -OMIM:609251 FCRLB skos:exactMatch hgnc:FCRLB semapv:UnspecifiedMatching +OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:26431 semapv:UnspecifiedMatching +OMIM:609251 FCRLB skos:exactMatch hgnc.symbol:FCRLB semapv:UnspecifiedMatching OMIM:609251 FCRLB skos:exactMatch ncbigene:127943 semapv:UnspecifiedMatching -OMIM:609252 LIPI skos:exactMatch hgnc:LIPI semapv:UnspecifiedMatching +OMIM:609252 LIPI skos:exactMatch hgnc.symbol:18821 semapv:UnspecifiedMatching +OMIM:609252 LIPI skos:exactMatch hgnc.symbol:LIPI semapv:UnspecifiedMatching OMIM:609252 LIPI skos:exactMatch ncbigene:149998 semapv:UnspecifiedMatching +OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C1836485 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching -OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a skos:exactMatch orphanet.ordo:99947 semapv:UnspecifiedMatching -OMIM:609262 CRBN skos:exactMatch hgnc:CRBN semapv:UnspecifiedMatching +OMIM:609262 CRBN skos:exactMatch hgnc.symbol:30185 semapv:UnspecifiedMatching +OMIM:609262 CRBN skos:exactMatch hgnc.symbol:CRBN semapv:UnspecifiedMatching OMIM:609262 CRBN skos:exactMatch ncbigene:51185 semapv:UnspecifiedMatching -OMIM:609263 SEH1L skos:exactMatch hgnc:SEH1L semapv:UnspecifiedMatching +OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:30379 semapv:UnspecifiedMatching +OMIM:609263 SEH1L skos:exactMatch hgnc.symbol:SEH1L semapv:UnspecifiedMatching OMIM:609263 SEH1L skos:exactMatch ncbigene:81929 semapv:UnspecifiedMatching -OMIM:609264 NUP37 skos:exactMatch hgnc:NUP37 semapv:UnspecifiedMatching +OMIM:609264 NUP37 skos:exactMatch hgnc.symbol:29929 semapv:UnspecifiedMatching +OMIM:609264 NUP37 skos:exactMatch hgnc.symbol:NUP37 semapv:UnspecifiedMatching OMIM:609264 NUP37 skos:exactMatch ncbigene:79023 semapv:UnspecifiedMatching -OMIM:609267 MAGEF1 skos:exactMatch hgnc:MAGEF1 semapv:UnspecifiedMatching +OMIM:609267 MAGEF1 skos:exactMatch hgnc.symbol:29639 semapv:UnspecifiedMatching +OMIM:609267 MAGEF1 skos:exactMatch hgnc.symbol:MAGEF1 semapv:UnspecifiedMatching OMIM:609267 MAGEF1 skos:exactMatch ncbigene:64110 semapv:UnspecifiedMatching -OMIM:609268 SREK1 skos:exactMatch hgnc:SREK1 semapv:UnspecifiedMatching +OMIM:609268 SREK1 skos:exactMatch hgnc.symbol:17882 semapv:UnspecifiedMatching +OMIM:609268 SREK1 skos:exactMatch hgnc.symbol:SREK1 semapv:UnspecifiedMatching OMIM:609268 SREK1 skos:exactMatch ncbigene:140890 semapv:UnspecifiedMatching -OMIM:609269 KIAA0319 skos:exactMatch hgnc:KIAA0319 semapv:UnspecifiedMatching +OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:21580 semapv:UnspecifiedMatching +OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:KIAA0319 semapv:UnspecifiedMatching OMIM:609269 KIAA0319 skos:exactMatch ncbigene:9856 semapv:UnspecifiedMatching -OMIM:609272 TPSD1 skos:exactMatch hgnc:TPSD1 semapv:UnspecifiedMatching +OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:14118 semapv:UnspecifiedMatching +OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:TPSD1 semapv:UnspecifiedMatching OMIM:609272 TPSD1 skos:exactMatch ncbigene:23430 semapv:UnspecifiedMatching +OMIM:609273 nemaline myopathy 6 skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching OMIM:609273 nemaline myopathy 6 skos:exactMatch UMLS:C1836472 semapv:UnspecifiedMatching -OMIM:609273 nemaline myopathy 6 skos:exactMatch orphanet.ordo:171439 semapv:UnspecifiedMatching -OMIM:609274 NACA2 skos:exactMatch hgnc:NACA2 semapv:UnspecifiedMatching +OMIM:609274 NACA2 skos:exactMatch hgnc.symbol:23290 semapv:UnspecifiedMatching +OMIM:609274 NACA2 skos:exactMatch hgnc.symbol:NACA2 semapv:UnspecifiedMatching OMIM:609274 NACA2 skos:exactMatch ncbigene:342538 semapv:UnspecifiedMatching -OMIM:609275 RAB3GAP2 skos:exactMatch hgnc:RAB3GAP2 semapv:UnspecifiedMatching +OMIM:609275 RAB3GAP2 skos:exactMatch hgnc.symbol:17168 semapv:UnspecifiedMatching +OMIM:609275 RAB3GAP2 skos:exactMatch hgnc.symbol:RAB3GAP2 semapv:UnspecifiedMatching OMIM:609275 RAB3GAP2 skos:exactMatch ncbigene:25782 semapv:UnspecifiedMatching -OMIM:609276 NCAPD3 skos:exactMatch hgnc:NCAPD3 semapv:UnspecifiedMatching +OMIM:609276 NCAPD3 skos:exactMatch hgnc.symbol:28952 semapv:UnspecifiedMatching +OMIM:609276 NCAPD3 skos:exactMatch hgnc.symbol:NCAPD3 semapv:UnspecifiedMatching OMIM:609276 NCAPD3 skos:exactMatch ncbigene:23310 semapv:UnspecifiedMatching -OMIM:609277 MOCS3 skos:exactMatch hgnc:MOCS3 semapv:UnspecifiedMatching +OMIM:609277 MOCS3 skos:exactMatch hgnc.symbol:15765 semapv:UnspecifiedMatching +OMIM:609277 MOCS3 skos:exactMatch hgnc.symbol:MOCS3 semapv:UnspecifiedMatching OMIM:609277 MOCS3 skos:exactMatch ncbigene:27304 semapv:UnspecifiedMatching OMIM:609278 IZUMO1 skos:exactMatch UMLS:C1825632 semapv:UnspecifiedMatching -OMIM:609278 IZUMO1 skos:exactMatch hgnc:IZUMO1 semapv:UnspecifiedMatching +OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:28539 semapv:UnspecifiedMatching +OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:IZUMO1 semapv:UnspecifiedMatching OMIM:609278 IZUMO1 skos:exactMatch ncbigene:284359 semapv:UnspecifiedMatching -OMIM:609279 CENPJ skos:exactMatch hgnc:CENPJ semapv:UnspecifiedMatching +OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:17272 semapv:UnspecifiedMatching +OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:CENPJ semapv:UnspecifiedMatching OMIM:609279 CENPJ skos:exactMatch ncbigene:55835 semapv:UnspecifiedMatching -OMIM:609280 EIF2AK4 skos:exactMatch hgnc:EIF2AK4 semapv:UnspecifiedMatching +OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:19687 semapv:UnspecifiedMatching +OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:EIF2AK4 semapv:UnspecifiedMatching OMIM:609280 EIF2AK4 skos:exactMatch ncbigene:440275 semapv:UnspecifiedMatching -OMIM:609281 MOB1A skos:exactMatch hgnc:MOB1A semapv:UnspecifiedMatching +OMIM:609281 MOB1A skos:exactMatch hgnc.symbol:16015 semapv:UnspecifiedMatching +OMIM:609281 MOB1A skos:exactMatch hgnc.symbol:MOB1A semapv:UnspecifiedMatching OMIM:609281 MOB1A skos:exactMatch ncbigene:55233 semapv:UnspecifiedMatching -OMIM:609282 MOB1B skos:exactMatch hgnc:MOB1B semapv:UnspecifiedMatching +OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:29801 semapv:UnspecifiedMatching +OMIM:609282 MOB1B skos:exactMatch hgnc.symbol:MOB1B semapv:UnspecifiedMatching OMIM:609282 MOB1B skos:exactMatch ncbigene:92597 semapv:UnspecifiedMatching +OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch UMLS:C1836460 semapv:UnspecifiedMatching -OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch orphanet.ordo:254892 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171433 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171439 semapv:UnspecifiedMatching +OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch Orphanet:171881 semapv:UnspecifiedMatching OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C1836448 semapv:UnspecifiedMatching OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch UMLS:C3714994 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch orphanet.ordo:171433 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch orphanet.ordo:171439 semapv:UnspecifiedMatching -OMIM:609284 congenital myopathy 4b, autosomal recessive skos:exactMatch orphanet.ordo:171881 semapv:UnspecifiedMatching +OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch UMLS:C1836439 semapv:UnspecifiedMatching -OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch orphanet.ordo:254892 semapv:UnspecifiedMatching -OMIM:609287 SH3GLB1 skos:exactMatch hgnc:SH3GLB1 semapv:UnspecifiedMatching +OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:10833 semapv:UnspecifiedMatching +OMIM:609287 SH3GLB1 skos:exactMatch hgnc.symbol:SH3GLB1 semapv:UnspecifiedMatching OMIM:609287 SH3GLB1 skos:exactMatch ncbigene:51100 semapv:UnspecifiedMatching -OMIM:609288 SH3GLB2 skos:exactMatch hgnc:SH3GLB2 semapv:UnspecifiedMatching +OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:10834 semapv:UnspecifiedMatching +OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:SH3GLB2 semapv:UnspecifiedMatching OMIM:609288 SH3GLB2 skos:exactMatch ncbigene:56904 semapv:UnspecifiedMatching -OMIM:609290 AK3 skos:exactMatch hgnc:AK3 semapv:UnspecifiedMatching +OMIM:609290 AK3 skos:exactMatch hgnc.symbol:17376 semapv:UnspecifiedMatching +OMIM:609290 AK3 skos:exactMatch hgnc.symbol:AK3 semapv:UnspecifiedMatching OMIM:609290 AK3 skos:exactMatch ncbigene:50808 semapv:UnspecifiedMatching -OMIM:609291 SPRED1 skos:exactMatch hgnc:SPRED1 semapv:UnspecifiedMatching +OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:20249 semapv:UnspecifiedMatching +OMIM:609291 SPRED1 skos:exactMatch hgnc.symbol:SPRED1 semapv:UnspecifiedMatching OMIM:609291 SPRED1 skos:exactMatch ncbigene:161742 semapv:UnspecifiedMatching -OMIM:609292 SPRED2 skos:exactMatch hgnc:SPRED2 semapv:UnspecifiedMatching +OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:17722 semapv:UnspecifiedMatching +OMIM:609292 SPRED2 skos:exactMatch hgnc.symbol:SPRED2 semapv:UnspecifiedMatching OMIM:609292 SPRED2 skos:exactMatch ncbigene:200734 semapv:UnspecifiedMatching -OMIM:609293 SPRED3 skos:exactMatch hgnc:SPRED3 semapv:UnspecifiedMatching +OMIM:609293 SPRED3 skos:exactMatch hgnc.symbol:31041 semapv:UnspecifiedMatching +OMIM:609293 SPRED3 skos:exactMatch hgnc.symbol:SPRED3 semapv:UnspecifiedMatching OMIM:609293 SPRED3 skos:exactMatch ncbigene:399473 semapv:UnspecifiedMatching OMIM:609294 SEMA6C skos:exactMatch UMLS:C1419958 semapv:UnspecifiedMatching -OMIM:609294 SEMA6C skos:exactMatch hgnc:SEMA6C semapv:UnspecifiedMatching +OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:10740 semapv:UnspecifiedMatching +OMIM:609294 SEMA6C skos:exactMatch hgnc.symbol:SEMA6C semapv:UnspecifiedMatching OMIM:609294 SEMA6C skos:exactMatch ncbigene:10500 semapv:UnspecifiedMatching OMIM:609295 SEMA6D skos:exactMatch UMLS:C1539745 semapv:UnspecifiedMatching -OMIM:609295 SEMA6D skos:exactMatch hgnc:SEMA6D semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:16770 semapv:UnspecifiedMatching +OMIM:609295 SEMA6D skos:exactMatch hgnc.symbol:SEMA6D semapv:UnspecifiedMatching OMIM:609295 SEMA6D skos:exactMatch ncbigene:80031 semapv:UnspecifiedMatching -OMIM:609297 SEMA5A skos:exactMatch hgnc:SEMA5A semapv:UnspecifiedMatching +OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:10736 semapv:UnspecifiedMatching +OMIM:609297 SEMA5A skos:exactMatch hgnc.symbol:SEMA5A semapv:UnspecifiedMatching OMIM:609297 SEMA5A skos:exactMatch ncbigene:9037 semapv:UnspecifiedMatching -OMIM:609298 SEMA5B skos:exactMatch hgnc:SEMA5B semapv:UnspecifiedMatching +OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:10737 semapv:UnspecifiedMatching +OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:SEMA5B semapv:UnspecifiedMatching OMIM:609298 SEMA5B skos:exactMatch ncbigene:54437 semapv:UnspecifiedMatching -OMIM:609300 CYP17A1 skos:exactMatch hgnc:CYP17A1 semapv:UnspecifiedMatching +OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:2593 semapv:UnspecifiedMatching +OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:CYP17A1 semapv:UnspecifiedMatching OMIM:609300 CYP17A1 skos:exactMatch ncbigene:1586 semapv:UnspecifiedMatching -OMIM:609301 PERP skos:exactMatch hgnc:PERP semapv:UnspecifiedMatching +OMIM:609301 PERP skos:exactMatch hgnc.symbol:17637 semapv:UnspecifiedMatching +OMIM:609301 PERP skos:exactMatch hgnc.symbol:PERP semapv:UnspecifiedMatching OMIM:609301 PERP skos:exactMatch ncbigene:64065 semapv:UnspecifiedMatching OMIM:609302 SLC25A22 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching OMIM:609302 SLC25A22 skos:exactMatch UMLS:C1426556 semapv:UnspecifiedMatching -OMIM:609302 SLC25A22 skos:exactMatch hgnc:SLC25A22 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch hgnc.symbol:19954 semapv:UnspecifiedMatching +OMIM:609302 SLC25A22 skos:exactMatch hgnc.symbol:SLC25A22 semapv:UnspecifiedMatching OMIM:609302 SLC25A22 skos:exactMatch ncbigene:79751 semapv:UnspecifiedMatching -OMIM:609303 SLC25A18 skos:exactMatch hgnc:SLC25A18 semapv:UnspecifiedMatching +OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:10988 semapv:UnspecifiedMatching +OMIM:609303 SLC25A18 skos:exactMatch hgnc.symbol:SLC25A18 semapv:UnspecifiedMatching OMIM:609303 SLC25A18 skos:exactMatch ncbigene:83733 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch UMLS:C0270855 semapv:UnspecifiedMatching -OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:609304 developmental and epileptic encephalopathy 3 skos:exactMatch orphanet.ordo:1935 semapv:UnspecifiedMatching -OMIM:609305 LXN skos:exactMatch hgnc:LXN semapv:UnspecifiedMatching +OMIM:609305 LXN skos:exactMatch hgnc.symbol:13347 semapv:UnspecifiedMatching +OMIM:609305 LXN skos:exactMatch hgnc.symbol:LXN semapv:UnspecifiedMatching OMIM:609305 LXN skos:exactMatch ncbigene:56925 semapv:UnspecifiedMatching +OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch Orphanet:86812 semapv:UnspecifiedMatching OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch UMLS:C1836373 semapv:UnspecifiedMatching -OMIM:609308 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 skos:exactMatch orphanet.ordo:86812 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C0879290 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C1321489 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C4017191 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching -OMIM:609309 MSH2 skos:exactMatch hgnc:MSH2 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:7325 semapv:UnspecifiedMatching +OMIM:609309 MSH2 skos:exactMatch hgnc.symbol:MSH2 semapv:UnspecifiedMatching OMIM:609309 MSH2 skos:exactMatch ncbigene:4436 semapv:UnspecifiedMatching -OMIM:609312 DBH skos:exactMatch hgnc:DBH semapv:UnspecifiedMatching +OMIM:609312 DBH skos:exactMatch hgnc.symbol:2689 semapv:UnspecifiedMatching +OMIM:609312 DBH skos:exactMatch hgnc.symbol:DBH semapv:UnspecifiedMatching OMIM:609312 DBH skos:exactMatch ncbigene:1621 semapv:UnspecifiedMatching +OMIM:609313 mednik syndrome skos:exactMatch Orphanet:171851 semapv:UnspecifiedMatching OMIM:609313 mednik syndrome skos:exactMatch UMLS:C1836330 semapv:UnspecifiedMatching -OMIM:609313 mednik syndrome skos:exactMatch orphanet.ordo:171851 semapv:UnspecifiedMatching -OMIM:609314 RSPH1 skos:exactMatch hgnc:RSPH1 semapv:UnspecifiedMatching +OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:12371 semapv:UnspecifiedMatching +OMIM:609314 RSPH1 skos:exactMatch hgnc.symbol:RSPH1 semapv:UnspecifiedMatching OMIM:609314 RSPH1 skos:exactMatch ncbigene:89765 semapv:UnspecifiedMatching -OMIM:609315 TRIM7 skos:exactMatch hgnc:TRIM7 semapv:UnspecifiedMatching +OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:16278 semapv:UnspecifiedMatching +OMIM:609315 TRIM7 skos:exactMatch hgnc.symbol:TRIM7 semapv:UnspecifiedMatching OMIM:609315 TRIM7 skos:exactMatch ncbigene:81786 semapv:UnspecifiedMatching -OMIM:609316 TRIM31 skos:exactMatch hgnc:TRIM31 semapv:UnspecifiedMatching +OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:16289 semapv:UnspecifiedMatching +OMIM:609316 TRIM31 skos:exactMatch hgnc.symbol:TRIM31 semapv:UnspecifiedMatching OMIM:609316 TRIM31 skos:exactMatch ncbigene:11074 semapv:UnspecifiedMatching -OMIM:609317 TRIM36 skos:exactMatch hgnc:TRIM36 semapv:UnspecifiedMatching +OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:16280 semapv:UnspecifiedMatching +OMIM:609317 TRIM36 skos:exactMatch hgnc.symbol:TRIM36 semapv:UnspecifiedMatching OMIM:609317 TRIM36 skos:exactMatch ncbigene:55521 semapv:UnspecifiedMatching -OMIM:609318 TRIM45 skos:exactMatch hgnc:TRIM45 semapv:UnspecifiedMatching +OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:19018 semapv:UnspecifiedMatching +OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:TRIM45 semapv:UnspecifiedMatching OMIM:609318 TRIM45 skos:exactMatch ncbigene:80263 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch UMLS:C1822613 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching -OMIM:609321 SASS6 skos:exactMatch hgnc:SASS6 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:25403 semapv:UnspecifiedMatching +OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:SASS6 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch ncbigene:163786 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:231108 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:69077 semapv:UnspecifiedMatching +OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch Orphanet:99966 semapv:UnspecifiedMatching OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C0206743 semapv:UnspecifiedMatching OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch UMLS:C1836327 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch orphanet.ordo:231108 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch orphanet.ordo:69077 semapv:UnspecifiedMatching -OMIM:609322 rhabdoid tumor predisposition syndrome 1 skos:exactMatch orphanet.ordo:99966 semapv:UnspecifiedMatching -OMIM:609323 OLIG3 skos:exactMatch hgnc:OLIG3 semapv:UnspecifiedMatching +OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:18003 semapv:UnspecifiedMatching +OMIM:609323 OLIG3 skos:exactMatch hgnc.symbol:OLIG3 semapv:UnspecifiedMatching OMIM:609323 OLIG3 skos:exactMatch ncbigene:167826 semapv:UnspecifiedMatching OMIM:609326 MIR1-1 skos:exactMatch UMLS:C1537699 semapv:UnspecifiedMatching -OMIM:609326 MIR1-1 skos:exactMatch hgnc:MIR1-1 semapv:UnspecifiedMatching +OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:31499 semapv:UnspecifiedMatching +OMIM:609326 MIR1-1 skos:exactMatch hgnc.symbol:MIR1-1 semapv:UnspecifiedMatching OMIM:609326 MIR1-1 skos:exactMatch ncbigene:406904 semapv:UnspecifiedMatching -OMIM:609327 MIR124-1 skos:exactMatch hgnc:MIR124-1 semapv:UnspecifiedMatching +OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:31502 semapv:UnspecifiedMatching +OMIM:609327 MIR124-1 skos:exactMatch hgnc.symbol:MIR124-1 semapv:UnspecifiedMatching OMIM:609327 MIR124-1 skos:exactMatch ncbigene:406907 semapv:UnspecifiedMatching -OMIM:609328 UCK1 skos:exactMatch hgnc:UCK1 semapv:UnspecifiedMatching +OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:14859 semapv:UnspecifiedMatching +OMIM:609328 UCK1 skos:exactMatch hgnc.symbol:UCK1 semapv:UnspecifiedMatching OMIM:609328 UCK1 skos:exactMatch ncbigene:83549 semapv:UnspecifiedMatching -OMIM:609329 UCK2 skos:exactMatch hgnc:UCK2 semapv:UnspecifiedMatching +OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:12562 semapv:UnspecifiedMatching +OMIM:609329 UCK2 skos:exactMatch hgnc.symbol:UCK2 semapv:UnspecifiedMatching OMIM:609329 UCK2 skos:exactMatch ncbigene:7371 semapv:UnspecifiedMatching -OMIM:609330 OIT3 skos:exactMatch hgnc:OIT3 semapv:UnspecifiedMatching +OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:29953 semapv:UnspecifiedMatching +OMIM:609330 OIT3 skos:exactMatch hgnc.symbol:OIT3 semapv:UnspecifiedMatching OMIM:609330 OIT3 skos:exactMatch ncbigene:170392 semapv:UnspecifiedMatching -OMIM:609331 BHLHE23 skos:exactMatch hgnc:BHLHE23 semapv:UnspecifiedMatching +OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:16093 semapv:UnspecifiedMatching +OMIM:609331 BHLHE23 skos:exactMatch hgnc.symbol:BHLHE23 semapv:UnspecifiedMatching OMIM:609331 BHLHE23 skos:exactMatch ncbigene:128408 semapv:UnspecifiedMatching -OMIM:609332 TTC7A skos:exactMatch hgnc:TTC7A semapv:UnspecifiedMatching +OMIM:609332 TTC7A skos:exactMatch hgnc.symbol:19750 semapv:UnspecifiedMatching +OMIM:609332 TTC7A skos:exactMatch hgnc.symbol:TTC7A semapv:UnspecifiedMatching OMIM:609332 TTC7A skos:exactMatch ncbigene:57217 semapv:UnspecifiedMatching -OMIM:609333 TAAR1 skos:exactMatch hgnc:TAAR1 semapv:UnspecifiedMatching +OMIM:609333 TAAR1 skos:exactMatch hgnc.symbol:17734 semapv:UnspecifiedMatching +OMIM:609333 TAAR1 skos:exactMatch hgnc.symbol:TAAR1 semapv:UnspecifiedMatching OMIM:609333 TAAR1 skos:exactMatch ncbigene:134864 semapv:UnspecifiedMatching -OMIM:609335 ODR4 skos:exactMatch hgnc:ODR4 semapv:UnspecifiedMatching +OMIM:609335 ODR4 skos:exactMatch hgnc.symbol:24299 semapv:UnspecifiedMatching +OMIM:609335 ODR4 skos:exactMatch hgnc.symbol:ODR4 semapv:UnspecifiedMatching OMIM:609335 ODR4 skos:exactMatch ncbigene:54953 semapv:UnspecifiedMatching -OMIM:609336 ANGPTL6 skos:exactMatch hgnc:ANGPTL6 semapv:UnspecifiedMatching +OMIM:609336 ANGPTL6 skos:exactMatch hgnc.symbol:23140 semapv:UnspecifiedMatching +OMIM:609336 ANGPTL6 skos:exactMatch hgnc.symbol:ANGPTL6 semapv:UnspecifiedMatching OMIM:609336 ANGPTL6 skos:exactMatch ncbigene:83854 semapv:UnspecifiedMatching -OMIM:609337 MIR155 skos:exactMatch hgnc:MIR155 semapv:UnspecifiedMatching +OMIM:609337 MIR155 skos:exactMatch hgnc.symbol:31542 semapv:UnspecifiedMatching +OMIM:609337 MIR155 skos:exactMatch hgnc.symbol:MIR155 semapv:UnspecifiedMatching OMIM:609337 MIR155 skos:exactMatch ncbigene:406947 semapv:UnspecifiedMatching -OMIM:609341 TPSG1 skos:exactMatch hgnc:TPSG1 semapv:UnspecifiedMatching +OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:14134 semapv:UnspecifiedMatching +OMIM:609341 TPSG1 skos:exactMatch hgnc.symbol:TPSG1 semapv:UnspecifiedMatching OMIM:609341 TPSG1 skos:exactMatch ncbigene:25823 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch UMLS:C1394891 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch UMLS:C1415066 semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch UMLS:C4017193 semapv:UnspecifiedMatching -OMIM:609342 CBLIF skos:exactMatch hgnc:CBLIF semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:4268 semapv:UnspecifiedMatching +OMIM:609342 CBLIF skos:exactMatch hgnc.symbol:CBLIF semapv:UnspecifiedMatching OMIM:609342 CBLIF skos:exactMatch ncbigene:2694 semapv:UnspecifiedMatching -OMIM:609343 PRSS22 skos:exactMatch hgnc:PRSS22 semapv:UnspecifiedMatching +OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:14368 semapv:UnspecifiedMatching +OMIM:609343 PRSS22 skos:exactMatch hgnc.symbol:PRSS22 semapv:UnspecifiedMatching OMIM:609343 PRSS22 skos:exactMatch ncbigene:64063 semapv:UnspecifiedMatching -OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc:KCP semapv:UnspecifiedMatching +OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:17585 semapv:UnspecifiedMatching +OMIM:609344 kielin/chordin-like protein skos:exactMatch hgnc.symbol:KCP semapv:UnspecifiedMatching OMIM:609344 kielin/chordin-like protein skos:exactMatch ncbigene:375616 semapv:UnspecifiedMatching -OMIM:609346 REEP6 skos:exactMatch hgnc:REEP6 semapv:UnspecifiedMatching +OMIM:609346 REEP6 skos:exactMatch hgnc.symbol:30078 semapv:UnspecifiedMatching +OMIM:609346 REEP6 skos:exactMatch hgnc.symbol:REEP6 semapv:UnspecifiedMatching OMIM:609346 REEP6 skos:exactMatch ncbigene:92840 semapv:UnspecifiedMatching -OMIM:609347 REEP2 skos:exactMatch hgnc:REEP2 semapv:UnspecifiedMatching +OMIM:609347 REEP2 skos:exactMatch hgnc.symbol:17975 semapv:UnspecifiedMatching +OMIM:609347 REEP2 skos:exactMatch hgnc.symbol:REEP2 semapv:UnspecifiedMatching OMIM:609347 REEP2 skos:exactMatch ncbigene:51308 semapv:UnspecifiedMatching -OMIM:609348 REEP3 skos:exactMatch hgnc:REEP3 semapv:UnspecifiedMatching +OMIM:609348 REEP3 skos:exactMatch hgnc.symbol:23711 semapv:UnspecifiedMatching +OMIM:609348 REEP3 skos:exactMatch hgnc.symbol:REEP3 semapv:UnspecifiedMatching OMIM:609348 REEP3 skos:exactMatch ncbigene:221035 semapv:UnspecifiedMatching -OMIM:609349 REEP4 skos:exactMatch hgnc:REEP4 semapv:UnspecifiedMatching +OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:26176 semapv:UnspecifiedMatching +OMIM:609349 REEP4 skos:exactMatch hgnc.symbol:REEP4 semapv:UnspecifiedMatching OMIM:609349 REEP4 skos:exactMatch ncbigene:80346 semapv:UnspecifiedMatching -OMIM:609350 RTP4 skos:exactMatch hgnc:RTP4 semapv:UnspecifiedMatching +OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:23992 semapv:UnspecifiedMatching +OMIM:609350 RTP4 skos:exactMatch hgnc.symbol:RTP4 semapv:UnspecifiedMatching OMIM:609350 RTP4 skos:exactMatch ncbigene:64108 semapv:UnspecifiedMatching OMIM:609351 ARL11 skos:exactMatch UMLS:C1428339 semapv:UnspecifiedMatching -OMIM:609351 ARL11 skos:exactMatch hgnc:ARL11 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:24046 semapv:UnspecifiedMatching +OMIM:609351 ARL11 skos:exactMatch hgnc.symbol:ARL11 semapv:UnspecifiedMatching OMIM:609351 ARL11 skos:exactMatch ncbigene:115761 semapv:UnspecifiedMatching -OMIM:609353 ESCO2 skos:exactMatch hgnc:ESCO2 semapv:UnspecifiedMatching +OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:27230 semapv:UnspecifiedMatching +OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:ESCO2 semapv:UnspecifiedMatching OMIM:609353 ESCO2 skos:exactMatch ncbigene:157570 semapv:UnspecifiedMatching -OMIM:609355 MIR32 skos:exactMatch hgnc:MIR32 semapv:UnspecifiedMatching +OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:31631 semapv:UnspecifiedMatching +OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:MIR32 semapv:UnspecifiedMatching OMIM:609355 MIR32 skos:exactMatch ncbigene:407036 semapv:UnspecifiedMatching -OMIM:609356 NUFIP2 skos:exactMatch hgnc:NUFIP2 semapv:UnspecifiedMatching +OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:17634 semapv:UnspecifiedMatching +OMIM:609356 NUFIP2 skos:exactMatch hgnc.symbol:NUFIP2 semapv:UnspecifiedMatching OMIM:609356 NUFIP2 skos:exactMatch ncbigene:57532 semapv:UnspecifiedMatching -OMIM:609357 MCM10 skos:exactMatch hgnc:MCM10 semapv:UnspecifiedMatching +OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:18043 semapv:UnspecifiedMatching +OMIM:609357 MCM10 skos:exactMatch hgnc.symbol:MCM10 semapv:UnspecifiedMatching OMIM:609357 MCM10 skos:exactMatch ncbigene:55388 semapv:UnspecifiedMatching -OMIM:609358 ETV2 skos:exactMatch hgnc:ETV2 semapv:UnspecifiedMatching +OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:3491 semapv:UnspecifiedMatching +OMIM:609358 ETV2 skos:exactMatch hgnc.symbol:ETV2 semapv:UnspecifiedMatching OMIM:609358 ETV2 skos:exactMatch ncbigene:2116 semapv:UnspecifiedMatching -OMIM:609359 HS1BP3 skos:exactMatch hgnc:HS1BP3 semapv:UnspecifiedMatching +OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:24979 semapv:UnspecifiedMatching +OMIM:609359 HS1BP3 skos:exactMatch hgnc.symbol:HS1BP3 semapv:UnspecifiedMatching OMIM:609359 HS1BP3 skos:exactMatch ncbigene:64342 semapv:UnspecifiedMatching -OMIM:609360 RNLS skos:exactMatch hgnc:RNLS semapv:UnspecifiedMatching +OMIM:609360 RNLS skos:exactMatch hgnc.symbol:25641 semapv:UnspecifiedMatching +OMIM:609360 RNLS skos:exactMatch hgnc.symbol:RNLS semapv:UnspecifiedMatching OMIM:609360 RNLS skos:exactMatch ncbigene:55328 semapv:UnspecifiedMatching -OMIM:609361 MOB4 skos:exactMatch hgnc:MOB4 semapv:UnspecifiedMatching +OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:17261 semapv:UnspecifiedMatching +OMIM:609361 MOB4 skos:exactMatch hgnc.symbol:MOB4 semapv:UnspecifiedMatching OMIM:609361 MOB4 skos:exactMatch ncbigene:25843 semapv:UnspecifiedMatching -OMIM:609362 LYPLA3 skos:exactMatch hgnc:PLA2G15 semapv:UnspecifiedMatching +OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:17163 semapv:UnspecifiedMatching +OMIM:609362 LYPLA3 skos:exactMatch hgnc.symbol:PLA2G15 semapv:UnspecifiedMatching OMIM:609362 LYPLA3 skos:exactMatch ncbigene:23659 semapv:UnspecifiedMatching -OMIM:609364 NLRP2 skos:exactMatch hgnc:NLRP2 semapv:UnspecifiedMatching +OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:22948 semapv:UnspecifiedMatching +OMIM:609364 NLRP2 skos:exactMatch hgnc.symbol:NLRP2 semapv:UnspecifiedMatching OMIM:609364 NLRP2 skos:exactMatch ncbigene:55655 semapv:UnspecifiedMatching -OMIM:609365 GNL2 skos:exactMatch hgnc:GNL2 semapv:UnspecifiedMatching +OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:29925 semapv:UnspecifiedMatching +OMIM:609365 GNL2 skos:exactMatch hgnc.symbol:GNL2 semapv:UnspecifiedMatching OMIM:609365 GNL2 skos:exactMatch ncbigene:29889 semapv:UnspecifiedMatching -OMIM:609366 CTR9 skos:exactMatch hgnc:CTR9 semapv:UnspecifiedMatching +OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:16850 semapv:UnspecifiedMatching +OMIM:609366 CTR9 skos:exactMatch hgnc.symbol:CTR9 semapv:UnspecifiedMatching OMIM:609366 CTR9 skos:exactMatch ncbigene:9646 semapv:UnspecifiedMatching -OMIM:609367 KIFBP skos:exactMatch hgnc:KIFBP semapv:UnspecifiedMatching +OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:23419 semapv:UnspecifiedMatching +OMIM:609367 KIFBP skos:exactMatch hgnc.symbol:KIFBP semapv:UnspecifiedMatching OMIM:609367 KIFBP skos:exactMatch ncbigene:26128 semapv:UnspecifiedMatching -OMIM:609368 ATL2 skos:exactMatch hgnc:ATL2 semapv:UnspecifiedMatching +OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:24047 semapv:UnspecifiedMatching +OMIM:609368 ATL2 skos:exactMatch hgnc.symbol:ATL2 semapv:UnspecifiedMatching OMIM:609368 ATL2 skos:exactMatch ncbigene:64225 semapv:UnspecifiedMatching OMIM:609369 ATL3 skos:exactMatch UMLS:C1836273 semapv:UnspecifiedMatching OMIM:609369 ATL3 skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching -OMIM:609369 ATL3 skos:exactMatch hgnc:ATL3 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:24526 semapv:UnspecifiedMatching +OMIM:609369 ATL3 skos:exactMatch hgnc.symbol:ATL3 semapv:UnspecifiedMatching OMIM:609369 ATL3 skos:exactMatch ncbigene:25923 semapv:UnspecifiedMatching -OMIM:609370 STK35 skos:exactMatch hgnc:STK35 semapv:UnspecifiedMatching +OMIM:609370 STK35 skos:exactMatch hgnc.symbol:16254 semapv:UnspecifiedMatching +OMIM:609370 STK35 skos:exactMatch hgnc.symbol:STK35 semapv:UnspecifiedMatching OMIM:609370 STK35 skos:exactMatch ncbigene:140901 semapv:UnspecifiedMatching -OMIM:609371 C5ORF5 skos:exactMatch hgnc:FAM13B semapv:UnspecifiedMatching +OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:1335 semapv:UnspecifiedMatching +OMIM:609371 C5ORF5 skos:exactMatch hgnc.symbol:FAM13B semapv:UnspecifiedMatching OMIM:609371 C5ORF5 skos:exactMatch ncbigene:51306 semapv:UnspecifiedMatching -OMIM:609372 FAM53C skos:exactMatch hgnc:FAM53C semapv:UnspecifiedMatching +OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:1336 semapv:UnspecifiedMatching +OMIM:609372 FAM53C skos:exactMatch hgnc.symbol:FAM53C semapv:UnspecifiedMatching OMIM:609372 FAM53C skos:exactMatch ncbigene:51307 semapv:UnspecifiedMatching OMIM:609373 KDM3B skos:exactMatch UMLS:C1413012 semapv:UnspecifiedMatching OMIM:609373 KDM3B skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching -OMIM:609373 KDM3B skos:exactMatch hgnc:KDM3B semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:1337 semapv:UnspecifiedMatching +OMIM:609373 KDM3B skos:exactMatch hgnc.symbol:KDM3B semapv:UnspecifiedMatching OMIM:609373 KDM3B skos:exactMatch ncbigene:51780 semapv:UnspecifiedMatching -OMIM:609374 CDCA5 skos:exactMatch hgnc:CDCA5 semapv:UnspecifiedMatching +OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:14626 semapv:UnspecifiedMatching +OMIM:609374 CDCA5 skos:exactMatch hgnc.symbol:CDCA5 semapv:UnspecifiedMatching OMIM:609374 CDCA5 skos:exactMatch ncbigene:113130 semapv:UnspecifiedMatching -OMIM:609375 LIN9 skos:exactMatch hgnc:LIN9 semapv:UnspecifiedMatching +OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:30830 semapv:UnspecifiedMatching +OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:LIN9 semapv:UnspecifiedMatching OMIM:609375 LIN9 skos:exactMatch ncbigene:286826 semapv:UnspecifiedMatching -OMIM:609377 ACD skos:exactMatch hgnc:ACD semapv:UnspecifiedMatching +OMIM:609377 ACD skos:exactMatch hgnc.symbol:25070 semapv:UnspecifiedMatching +OMIM:609377 ACD skos:exactMatch hgnc.symbol:ACD semapv:UnspecifiedMatching OMIM:609377 ACD skos:exactMatch ncbigene:65057 semapv:UnspecifiedMatching -OMIM:609379 LCN6 skos:exactMatch hgnc:LCN6 semapv:UnspecifiedMatching +OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:17337 semapv:UnspecifiedMatching +OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:LCN6 semapv:UnspecifiedMatching OMIM:609379 LCN6 skos:exactMatch ncbigene:158062 semapv:UnspecifiedMatching -OMIM:609380 LMLN skos:exactMatch hgnc:LMLN semapv:UnspecifiedMatching +OMIM:609380 LMLN skos:exactMatch hgnc.symbol:15991 semapv:UnspecifiedMatching +OMIM:609380 LMLN skos:exactMatch hgnc.symbol:LMLN semapv:UnspecifiedMatching OMIM:609380 LMLN skos:exactMatch ncbigene:89782 semapv:UnspecifiedMatching -OMIM:609381 STXBP5L skos:exactMatch hgnc:STXBP5L semapv:UnspecifiedMatching +OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:30757 semapv:UnspecifiedMatching +OMIM:609381 STXBP5L skos:exactMatch hgnc.symbol:STXBP5L semapv:UnspecifiedMatching OMIM:609381 STXBP5L skos:exactMatch ncbigene:9515 semapv:UnspecifiedMatching -OMIM:609382 IER3IP1 skos:exactMatch hgnc:IER3IP1 semapv:UnspecifiedMatching +OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:18550 semapv:UnspecifiedMatching +OMIM:609382 IER3IP1 skos:exactMatch hgnc.symbol:IER3IP1 semapv:UnspecifiedMatching OMIM:609382 IER3IP1 skos:exactMatch ncbigene:51124 semapv:UnspecifiedMatching -OMIM:609383 NIPAL4 skos:exactMatch hgnc:NIPAL4 semapv:UnspecifiedMatching +OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:28018 semapv:UnspecifiedMatching +OMIM:609383 NIPAL4 skos:exactMatch hgnc.symbol:NIPAL4 semapv:UnspecifiedMatching OMIM:609383 NIPAL4 skos:exactMatch ncbigene:348938 semapv:UnspecifiedMatching -OMIM:609385 DND1 skos:exactMatch hgnc:DND1 semapv:UnspecifiedMatching +OMIM:609385 DND1 skos:exactMatch hgnc.symbol:23799 semapv:UnspecifiedMatching +OMIM:609385 DND1 skos:exactMatch hgnc.symbol:DND1 semapv:UnspecifiedMatching OMIM:609385 DND1 skos:exactMatch ncbigene:373863 semapv:UnspecifiedMatching -OMIM:609386 SMC5 skos:exactMatch hgnc:SMC5 semapv:UnspecifiedMatching +OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:20465 semapv:UnspecifiedMatching +OMIM:609386 SMC5 skos:exactMatch hgnc.symbol:SMC5 semapv:UnspecifiedMatching OMIM:609386 SMC5 skos:exactMatch ncbigene:23137 semapv:UnspecifiedMatching -OMIM:609387 SMC6 skos:exactMatch hgnc:SMC6 semapv:UnspecifiedMatching +OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:20466 semapv:UnspecifiedMatching +OMIM:609387 SMC6 skos:exactMatch hgnc.symbol:SMC6 semapv:UnspecifiedMatching OMIM:609387 SMC6 skos:exactMatch ncbigene:79677 semapv:UnspecifiedMatching -OMIM:609388 METTL9 skos:exactMatch hgnc:METTL9 semapv:UnspecifiedMatching +OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:24586 semapv:UnspecifiedMatching +OMIM:609388 METTL9 skos:exactMatch hgnc.symbol:METTL9 semapv:UnspecifiedMatching OMIM:609388 METTL9 skos:exactMatch ncbigene:51108 semapv:UnspecifiedMatching -OMIM:609389 INPP5F skos:exactMatch hgnc:INPP5F semapv:UnspecifiedMatching +OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:17054 semapv:UnspecifiedMatching +OMIM:609389 INPP5F skos:exactMatch hgnc.symbol:INPP5F semapv:UnspecifiedMatching OMIM:609389 INPP5F skos:exactMatch ncbigene:22876 semapv:UnspecifiedMatching -OMIM:609390 FIG4 skos:exactMatch hgnc:FIG4 semapv:UnspecifiedMatching +OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:16873 semapv:UnspecifiedMatching +OMIM:609390 FIG4 skos:exactMatch hgnc.symbol:FIG4 semapv:UnspecifiedMatching OMIM:609390 FIG4 skos:exactMatch ncbigene:9896 semapv:UnspecifiedMatching -OMIM:609391 SP5 skos:exactMatch hgnc:SP5 semapv:UnspecifiedMatching +OMIM:609391 SP5 skos:exactMatch hgnc.symbol:14529 semapv:UnspecifiedMatching +OMIM:609391 SP5 skos:exactMatch hgnc.symbol:SP5 semapv:UnspecifiedMatching OMIM:609391 SP5 skos:exactMatch ncbigene:389058 semapv:UnspecifiedMatching OMIM:609392 KLF3 skos:exactMatch UMLS:C1424346 semapv:UnspecifiedMatching -OMIM:609392 KLF3 skos:exactMatch hgnc:KLF3 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:16516 semapv:UnspecifiedMatching +OMIM:609392 KLF3 skos:exactMatch hgnc.symbol:KLF3 semapv:UnspecifiedMatching OMIM:609392 KLF3 skos:exactMatch ncbigene:51274 semapv:UnspecifiedMatching -OMIM:609393 KLF14 skos:exactMatch hgnc:KLF14 semapv:UnspecifiedMatching +OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:23025 semapv:UnspecifiedMatching +OMIM:609393 KLF14 skos:exactMatch hgnc.symbol:KLF14 semapv:UnspecifiedMatching OMIM:609393 KLF14 skos:exactMatch ncbigene:136259 semapv:UnspecifiedMatching -OMIM:609394 SPC24 skos:exactMatch hgnc:SPC24 semapv:UnspecifiedMatching +OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:26913 semapv:UnspecifiedMatching +OMIM:609394 SPC24 skos:exactMatch hgnc.symbol:SPC24 semapv:UnspecifiedMatching OMIM:609394 SPC24 skos:exactMatch ncbigene:147841 semapv:UnspecifiedMatching -OMIM:609395 SPC25 skos:exactMatch hgnc:SPC25 semapv:UnspecifiedMatching +OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:24031 semapv:UnspecifiedMatching +OMIM:609395 SPC25 skos:exactMatch hgnc.symbol:SPC25 semapv:UnspecifiedMatching OMIM:609395 SPC25 skos:exactMatch ncbigene:57405 semapv:UnspecifiedMatching -OMIM:609396 PHLPP1 skos:exactMatch hgnc:PHLPP1 semapv:UnspecifiedMatching +OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:20610 semapv:UnspecifiedMatching +OMIM:609396 PHLPP1 skos:exactMatch hgnc.symbol:PHLPP1 semapv:UnspecifiedMatching OMIM:609396 PHLPP1 skos:exactMatch ncbigene:23239 semapv:UnspecifiedMatching -OMIM:609397 STOX1 skos:exactMatch hgnc:STOX1 semapv:UnspecifiedMatching +OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:23508 semapv:UnspecifiedMatching +OMIM:609397 STOX1 skos:exactMatch hgnc.symbol:STOX1 semapv:UnspecifiedMatching OMIM:609397 STOX1 skos:exactMatch ncbigene:219736 semapv:UnspecifiedMatching -OMIM:609398 ATP6V1D skos:exactMatch hgnc:ATP6V1D semapv:UnspecifiedMatching +OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:13527 semapv:UnspecifiedMatching +OMIM:609398 ATP6V1D skos:exactMatch hgnc.symbol:ATP6V1D semapv:UnspecifiedMatching OMIM:609398 ATP6V1D skos:exactMatch ncbigene:51382 semapv:UnspecifiedMatching -OMIM:609399 SPESP1 skos:exactMatch hgnc:SPESP1 semapv:UnspecifiedMatching +OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:15570 semapv:UnspecifiedMatching +OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:SPESP1 semapv:UnspecifiedMatching OMIM:609399 SPESP1 skos:exactMatch ncbigene:246777 semapv:UnspecifiedMatching -OMIM:609401 HS6ST3 skos:exactMatch hgnc:HS6ST3 semapv:UnspecifiedMatching +OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:19134 semapv:UnspecifiedMatching +OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:HS6ST3 semapv:UnspecifiedMatching OMIM:609401 HS6ST3 skos:exactMatch ncbigene:266722 semapv:UnspecifiedMatching -OMIM:609405 ARHGAP8 skos:exactMatch hgnc:ARHGAP8 semapv:UnspecifiedMatching +OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:677 semapv:UnspecifiedMatching +OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:ARHGAP8 semapv:UnspecifiedMatching OMIM:609405 ARHGAP8 skos:exactMatch ncbigene:23779 semapv:UnspecifiedMatching -OMIM:609406 PRR5 skos:exactMatch hgnc:PRR5 semapv:UnspecifiedMatching +OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:31682 semapv:UnspecifiedMatching +OMIM:609406 PRR5 skos:exactMatch hgnc.symbol:PRR5 semapv:UnspecifiedMatching OMIM:609406 PRR5 skos:exactMatch ncbigene:55615 semapv:UnspecifiedMatching -OMIM:609407 HS3ST5 skos:exactMatch hgnc:HS3ST5 semapv:UnspecifiedMatching +OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:19419 semapv:UnspecifiedMatching +OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:HS3ST5 semapv:UnspecifiedMatching OMIM:609407 HS3ST5 skos:exactMatch ncbigene:222537 semapv:UnspecifiedMatching -OMIM:609409 HNRNPA0 skos:exactMatch hgnc:HNRNPA0 semapv:UnspecifiedMatching +OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:5030 semapv:UnspecifiedMatching +OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:HNRNPA0 semapv:UnspecifiedMatching OMIM:609409 HNRNPA0 skos:exactMatch ncbigene:10949 semapv:UnspecifiedMatching -OMIM:609410 SYNJ2 skos:exactMatch hgnc:SYNJ2 semapv:UnspecifiedMatching +OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:11504 semapv:UnspecifiedMatching +OMIM:609410 SYNJ2 skos:exactMatch hgnc.symbol:SYNJ2 semapv:UnspecifiedMatching OMIM:609410 SYNJ2 skos:exactMatch ncbigene:8871 semapv:UnspecifiedMatching -OMIM:609411 SYNJ2BP skos:exactMatch hgnc:SYNJ2BP semapv:UnspecifiedMatching +OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:18955 semapv:UnspecifiedMatching +OMIM:609411 SYNJ2BP skos:exactMatch hgnc.symbol:SYNJ2BP semapv:UnspecifiedMatching OMIM:609411 SYNJ2BP skos:exactMatch ncbigene:55333 semapv:UnspecifiedMatching -OMIM:609412 ERCC8 skos:exactMatch hgnc:ERCC8 semapv:UnspecifiedMatching +OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:3439 semapv:UnspecifiedMatching +OMIM:609412 ERCC8 skos:exactMatch hgnc.symbol:ERCC8 semapv:UnspecifiedMatching OMIM:609412 ERCC8 skos:exactMatch ncbigene:1161 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C0220722 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C0265201 semapv:UnspecifiedMatching @@ -27044,817 +37565,1182 @@ OMIM:609413 ERCC6 skos:exactMatch UMLS:C3551173 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C4017197 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch UMLS:C4310783 semapv:UnspecifiedMatching -OMIM:609413 ERCC6 skos:exactMatch hgnc:ERCC6 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:3438 semapv:UnspecifiedMatching +OMIM:609413 ERCC6 skos:exactMatch hgnc.symbol:ERCC6 semapv:UnspecifiedMatching OMIM:609413 ERCC6 skos:exactMatch ncbigene:2074 semapv:UnspecifiedMatching -OMIM:609414 PIKFYVE skos:exactMatch hgnc:PIKFYVE semapv:UnspecifiedMatching +OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:23785 semapv:UnspecifiedMatching +OMIM:609414 PIKFYVE skos:exactMatch hgnc.symbol:PIKFYVE semapv:UnspecifiedMatching OMIM:609414 PIKFYVE skos:exactMatch ncbigene:200576 semapv:UnspecifiedMatching -OMIM:609415 MIR17HG skos:exactMatch hgnc:MIR17HG semapv:UnspecifiedMatching +OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:23564 semapv:UnspecifiedMatching +OMIM:609415 MIR17HG skos:exactMatch hgnc.symbol:MIR17HG semapv:UnspecifiedMatching OMIM:609415 MIR17HG skos:exactMatch ncbigene:407975 semapv:UnspecifiedMatching -OMIM:609416 MIR17 skos:exactMatch hgnc:MIR17 semapv:UnspecifiedMatching +OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:31547 semapv:UnspecifiedMatching +OMIM:609416 MIR17 skos:exactMatch hgnc.symbol:MIR17 semapv:UnspecifiedMatching OMIM:609416 MIR17 skos:exactMatch ncbigene:406952 semapv:UnspecifiedMatching -OMIM:609417 MIR18A skos:exactMatch hgnc:MIR18A semapv:UnspecifiedMatching +OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:31548 semapv:UnspecifiedMatching +OMIM:609417 MIR18A skos:exactMatch hgnc.symbol:MIR18A semapv:UnspecifiedMatching OMIM:609417 MIR18A skos:exactMatch ncbigene:406953 semapv:UnspecifiedMatching -OMIM:609418 MIR19A skos:exactMatch hgnc:MIR19A semapv:UnspecifiedMatching +OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:31574 semapv:UnspecifiedMatching +OMIM:609418 MIR19A skos:exactMatch hgnc.symbol:MIR19A semapv:UnspecifiedMatching OMIM:609418 MIR19A skos:exactMatch ncbigene:406979 semapv:UnspecifiedMatching -OMIM:609419 MIR19B1 skos:exactMatch hgnc:MIR19B1 semapv:UnspecifiedMatching +OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:31575 semapv:UnspecifiedMatching +OMIM:609419 MIR19B1 skos:exactMatch hgnc.symbol:MIR19B1 semapv:UnspecifiedMatching OMIM:609419 MIR19B1 skos:exactMatch ncbigene:406980 semapv:UnspecifiedMatching -OMIM:609420 MIR20A skos:exactMatch hgnc:MIR20A semapv:UnspecifiedMatching +OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:31577 semapv:UnspecifiedMatching +OMIM:609420 MIR20A skos:exactMatch hgnc.symbol:MIR20A semapv:UnspecifiedMatching OMIM:609420 MIR20A skos:exactMatch ncbigene:406982 semapv:UnspecifiedMatching -OMIM:609422 MIR92A1 skos:exactMatch hgnc:MIR92A1 semapv:UnspecifiedMatching +OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:31643 semapv:UnspecifiedMatching +OMIM:609422 MIR92A1 skos:exactMatch hgnc.symbol:MIR92A1 semapv:UnspecifiedMatching OMIM:609422 MIR92A1 skos:exactMatch ncbigene:407048 semapv:UnspecifiedMatching OMIM:609424 RC3H1 skos:exactMatch UMLS:C1826784 semapv:UnspecifiedMatching OMIM:609424 RC3H1 skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching -OMIM:609424 RC3H1 skos:exactMatch hgnc:RC3H1 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:29434 semapv:UnspecifiedMatching +OMIM:609424 RC3H1 skos:exactMatch hgnc.symbol:RC3H1 semapv:UnspecifiedMatching OMIM:609424 RC3H1 skos:exactMatch ncbigene:149041 semapv:UnspecifiedMatching -OMIM:609426 MINK1 skos:exactMatch hgnc:MINK1 semapv:UnspecifiedMatching +OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:17565 semapv:UnspecifiedMatching +OMIM:609426 MINK1 skos:exactMatch hgnc.symbol:MINK1 semapv:UnspecifiedMatching OMIM:609426 MINK1 skos:exactMatch ncbigene:50488 semapv:UnspecifiedMatching -OMIM:609427 LHFPL5 skos:exactMatch hgnc:LHFPL5 semapv:UnspecifiedMatching +OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:21253 semapv:UnspecifiedMatching +OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:LHFPL5 semapv:UnspecifiedMatching OMIM:609427 LHFPL5 skos:exactMatch ncbigene:222662 semapv:UnspecifiedMatching -OMIM:609429 FOXN4 skos:exactMatch hgnc:FOXN4 semapv:UnspecifiedMatching +OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:21399 semapv:UnspecifiedMatching +OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:FOXN4 semapv:UnspecifiedMatching OMIM:609429 FOXN4 skos:exactMatch ncbigene:121643 semapv:UnspecifiedMatching -OMIM:609430 NPAS3 skos:exactMatch hgnc:NPAS3 semapv:UnspecifiedMatching +OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:19311 semapv:UnspecifiedMatching +OMIM:609430 NPAS3 skos:exactMatch hgnc.symbol:NPAS3 semapv:UnspecifiedMatching OMIM:609430 NPAS3 skos:exactMatch ncbigene:64067 semapv:UnspecifiedMatching -OMIM:609431 MBIP skos:exactMatch hgnc:MBIP semapv:UnspecifiedMatching +OMIM:609431 MBIP skos:exactMatch hgnc.symbol:20427 semapv:UnspecifiedMatching +OMIM:609431 MBIP skos:exactMatch hgnc.symbol:MBIP semapv:UnspecifiedMatching OMIM:609431 MBIP skos:exactMatch ncbigene:51562 semapv:UnspecifiedMatching -OMIM:609433 UIMC1 skos:exactMatch hgnc:UIMC1 semapv:UnspecifiedMatching +OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:30298 semapv:UnspecifiedMatching +OMIM:609433 UIMC1 skos:exactMatch hgnc.symbol:UIMC1 semapv:UnspecifiedMatching OMIM:609433 UIMC1 skos:exactMatch ncbigene:51720 semapv:UnspecifiedMatching OMIM:609434 LUC7L3 skos:exactMatch UMLS:C1836205 semapv:UnspecifiedMatching -OMIM:609434 LUC7L3 skos:exactMatch hgnc:LUC7L3 semapv:UnspecifiedMatching +OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:24309 semapv:UnspecifiedMatching +OMIM:609434 LUC7L3 skos:exactMatch hgnc.symbol:LUC7L3 semapv:UnspecifiedMatching OMIM:609434 LUC7L3 skos:exactMatch ncbigene:51747 semapv:UnspecifiedMatching -OMIM:609435 NDUFA13 skos:exactMatch hgnc:NDUFA13 semapv:UnspecifiedMatching +OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:17194 semapv:UnspecifiedMatching +OMIM:609435 NDUFA13 skos:exactMatch hgnc.symbol:NDUFA13 semapv:UnspecifiedMatching OMIM:609435 NDUFA13 skos:exactMatch ncbigene:51079 semapv:UnspecifiedMatching -OMIM:609436 FGF21 skos:exactMatch hgnc:FGF21 semapv:UnspecifiedMatching +OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:3678 semapv:UnspecifiedMatching +OMIM:609436 FGF21 skos:exactMatch hgnc.symbol:FGF21 semapv:UnspecifiedMatching OMIM:609436 FGF21 skos:exactMatch ncbigene:26291 semapv:UnspecifiedMatching -OMIM:609437 STK40 skos:exactMatch hgnc:STK40 semapv:UnspecifiedMatching +OMIM:609437 STK40 skos:exactMatch hgnc.symbol:21373 semapv:UnspecifiedMatching +OMIM:609437 STK40 skos:exactMatch hgnc.symbol:STK40 semapv:UnspecifiedMatching OMIM:609437 STK40 skos:exactMatch ncbigene:83931 semapv:UnspecifiedMatching -OMIM:609440 UTP11L skos:exactMatch hgnc:UTP11 semapv:UnspecifiedMatching +OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:24329 semapv:UnspecifiedMatching +OMIM:609440 UTP11L skos:exactMatch hgnc.symbol:UTP11 semapv:UnspecifiedMatching OMIM:609440 UTP11L skos:exactMatch ncbigene:51118 semapv:UnspecifiedMatching +OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch Orphanet:1906 semapv:UnspecifiedMatching OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C0236026 semapv:UnspecifiedMatching OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch UMLS:C1876218 semapv:UnspecifiedMatching -OMIM:609442 valproate embryopathy, susceptibility to skos:exactMatch orphanet.ordo:1906 semapv:UnspecifiedMatching -OMIM:609443 CELA2A skos:exactMatch hgnc:CELA2A semapv:UnspecifiedMatching +OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:24609 semapv:UnspecifiedMatching +OMIM:609443 CELA2A skos:exactMatch hgnc.symbol:CELA2A semapv:UnspecifiedMatching OMIM:609443 CELA2A skos:exactMatch ncbigene:63036 semapv:UnspecifiedMatching -OMIM:609444 CELA2B skos:exactMatch hgnc:CELA2B semapv:UnspecifiedMatching +OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:29995 semapv:UnspecifiedMatching +OMIM:609444 CELA2B skos:exactMatch hgnc.symbol:CELA2B semapv:UnspecifiedMatching OMIM:609444 CELA2B skos:exactMatch ncbigene:51032 semapv:UnspecifiedMatching -OMIM:609445 RXFP3 skos:exactMatch hgnc:RXFP3 semapv:UnspecifiedMatching +OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:24883 semapv:UnspecifiedMatching +OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:RXFP3 semapv:UnspecifiedMatching OMIM:609445 RXFP3 skos:exactMatch ncbigene:51289 semapv:UnspecifiedMatching -OMIM:609447 MZB1 skos:exactMatch hgnc:MZB1 semapv:UnspecifiedMatching +OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:30125 semapv:UnspecifiedMatching +OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:MZB1 semapv:UnspecifiedMatching OMIM:609447 MZB1 skos:exactMatch ncbigene:51237 semapv:UnspecifiedMatching -OMIM:609448 TXNDC12 skos:exactMatch hgnc:TXNDC12 semapv:UnspecifiedMatching +OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:24626 semapv:UnspecifiedMatching +OMIM:609448 TXNDC12 skos:exactMatch hgnc.symbol:TXNDC12 semapv:UnspecifiedMatching OMIM:609448 TXNDC12 skos:exactMatch ncbigene:51060 semapv:UnspecifiedMatching -OMIM:609449 NDE1 skos:exactMatch hgnc:NDE1 semapv:UnspecifiedMatching +OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:17619 semapv:UnspecifiedMatching +OMIM:609449 NDE1 skos:exactMatch hgnc.symbol:NDE1 semapv:UnspecifiedMatching OMIM:609449 NDE1 skos:exactMatch ncbigene:54820 semapv:UnspecifiedMatching -OMIM:609450 MXD3 skos:exactMatch hgnc:MXD3 semapv:UnspecifiedMatching +OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:14008 semapv:UnspecifiedMatching +OMIM:609450 MXD3 skos:exactMatch hgnc.symbol:MXD3 semapv:UnspecifiedMatching OMIM:609450 MXD3 skos:exactMatch ncbigene:83463 semapv:UnspecifiedMatching -OMIM:609451 ZFP90 skos:exactMatch hgnc:ZFP90 semapv:UnspecifiedMatching +OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:23329 semapv:UnspecifiedMatching +OMIM:609451 ZFP90 skos:exactMatch hgnc.symbol:ZFP90 semapv:UnspecifiedMatching OMIM:609451 ZFP90 skos:exactMatch ncbigene:146198 semapv:UnspecifiedMatching +OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch Orphanet:98912 semapv:UnspecifiedMatching OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch UMLS:C4721886 semapv:UnspecifiedMatching -OMIM:609452 myopathy, myofibrillar, 4 skos:exactMatch orphanet.ordo:98912 semapv:UnspecifiedMatching -OMIM:609453 GOLGA7 skos:exactMatch hgnc:GOLGA7 semapv:UnspecifiedMatching +OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:24876 semapv:UnspecifiedMatching +OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:GOLGA7 semapv:UnspecifiedMatching OMIM:609453 GOLGA7 skos:exactMatch ncbigene:51125 semapv:UnspecifiedMatching -OMIM:609455 PELP1 skos:exactMatch hgnc:PELP1 semapv:UnspecifiedMatching +OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:30134 semapv:UnspecifiedMatching +OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:PELP1 semapv:UnspecifiedMatching OMIM:609455 PELP1 skos:exactMatch ncbigene:27043 semapv:UnspecifiedMatching OMIM:609457 HAL skos:exactMatch UMLS:C0220992 semapv:UnspecifiedMatching OMIM:609457 HAL skos:exactMatch UMLS:C1415465 semapv:UnspecifiedMatching -OMIM:609457 HAL skos:exactMatch hgnc:HAL semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch hgnc.symbol:4806 semapv:UnspecifiedMatching +OMIM:609457 HAL skos:exactMatch hgnc.symbol:HAL semapv:UnspecifiedMatching OMIM:609457 HAL skos:exactMatch ncbigene:3034 semapv:UnspecifiedMatching -OMIM:609458 MAN2B1 skos:exactMatch hgnc:MAN2B1 semapv:UnspecifiedMatching +OMIM:609458 MAN2B1 skos:exactMatch hgnc.symbol:6826 semapv:UnspecifiedMatching +OMIM:609458 MAN2B1 skos:exactMatch hgnc.symbol:MAN2B1 semapv:UnspecifiedMatching OMIM:609458 MAN2B1 skos:exactMatch ncbigene:4125 semapv:UnspecifiedMatching -OMIM:609459 DGCR6L skos:exactMatch hgnc:DGCR6L semapv:UnspecifiedMatching +OMIM:609459 DGCR6L skos:exactMatch hgnc.symbol:18551 semapv:UnspecifiedMatching +OMIM:609459 DGCR6L skos:exactMatch hgnc.symbol:DGCR6L semapv:UnspecifiedMatching OMIM:609459 DGCR6L skos:exactMatch ncbigene:85359 semapv:UnspecifiedMatching -OMIM:609461 TRIB1 skos:exactMatch hgnc:TRIB1 semapv:UnspecifiedMatching +OMIM:609461 TRIB1 skos:exactMatch hgnc.symbol:16891 semapv:UnspecifiedMatching +OMIM:609461 TRIB1 skos:exactMatch hgnc.symbol:TRIB1 semapv:UnspecifiedMatching OMIM:609461 TRIB1 skos:exactMatch ncbigene:10221 semapv:UnspecifiedMatching -OMIM:609462 TRIB2 skos:exactMatch hgnc:TRIB2 semapv:UnspecifiedMatching +OMIM:609462 TRIB2 skos:exactMatch hgnc.symbol:30809 semapv:UnspecifiedMatching +OMIM:609462 TRIB2 skos:exactMatch hgnc.symbol:TRIB2 semapv:UnspecifiedMatching OMIM:609462 TRIB2 skos:exactMatch ncbigene:28951 semapv:UnspecifiedMatching OMIM:609463 MRTFB skos:exactMatch UMLS:C1537922 semapv:UnspecifiedMatching -OMIM:609463 MRTFB skos:exactMatch hgnc:MRTFB semapv:UnspecifiedMatching +OMIM:609463 MRTFB skos:exactMatch hgnc.symbol:29819 semapv:UnspecifiedMatching +OMIM:609463 MRTFB skos:exactMatch hgnc.symbol:MRTFB semapv:UnspecifiedMatching OMIM:609463 MRTFB skos:exactMatch ncbigene:57496 semapv:UnspecifiedMatching +OMIM:609465 al-gazali syndrome skos:exactMatch Orphanet:2725 semapv:UnspecifiedMatching OMIM:609465 al-gazali syndrome skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching -OMIM:609465 al-gazali syndrome skos:exactMatch orphanet.ordo:2725 semapv:UnspecifiedMatching -OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc:CCL3P1 semapv:UnspecifiedMatching -OMIM:609468 CCL3L3 skos:exactMatch hgnc:CCL3L3 semapv:UnspecifiedMatching +OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:10629 semapv:UnspecifiedMatching +OMIM:609467 chemokine, cc motif, ligand 3, pseudogene 1 skos:exactMatch hgnc.symbol:CCL3P1 semapv:UnspecifiedMatching +OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:30554 semapv:UnspecifiedMatching +OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:CCL3L3 semapv:UnspecifiedMatching OMIM:609468 CCL3L3 skos:exactMatch ncbigene:414062 semapv:UnspecifiedMatching -OMIM:609471 GBA2 skos:exactMatch hgnc:GBA2 semapv:UnspecifiedMatching +OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:18986 semapv:UnspecifiedMatching +OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:GBA2 semapv:UnspecifiedMatching OMIM:609471 GBA2 skos:exactMatch ncbigene:57704 semapv:UnspecifiedMatching -OMIM:609472 CNGA4 skos:exactMatch hgnc:CNGA4 semapv:UnspecifiedMatching +OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:2152 semapv:UnspecifiedMatching +OMIM:609472 CNGA4 skos:exactMatch hgnc.symbol:CNGA4 semapv:UnspecifiedMatching OMIM:609472 CNGA4 skos:exactMatch ncbigene:1262 semapv:UnspecifiedMatching OMIM:609473 CGN skos:exactMatch UMLS:C1424964 semapv:UnspecifiedMatching -OMIM:609473 CGN skos:exactMatch hgnc:CGN semapv:UnspecifiedMatching +OMIM:609473 CGN skos:exactMatch hgnc.symbol:17429 semapv:UnspecifiedMatching +OMIM:609473 CGN skos:exactMatch hgnc.symbol:CGN semapv:UnspecifiedMatching OMIM:609473 CGN skos:exactMatch ncbigene:57530 semapv:UnspecifiedMatching -OMIM:609474 NPTXR skos:exactMatch hgnc:NPTXR semapv:UnspecifiedMatching +OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:7954 semapv:UnspecifiedMatching +OMIM:609474 NPTXR skos:exactMatch hgnc.symbol:NPTXR semapv:UnspecifiedMatching OMIM:609474 NPTXR skos:exactMatch ncbigene:23467 semapv:UnspecifiedMatching -OMIM:609475 AKAP8L skos:exactMatch hgnc:AKAP8L semapv:UnspecifiedMatching +OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:29857 semapv:UnspecifiedMatching +OMIM:609475 AKAP8L skos:exactMatch hgnc.symbol:AKAP8L semapv:UnspecifiedMatching OMIM:609475 AKAP8L skos:exactMatch ncbigene:26993 semapv:UnspecifiedMatching -OMIM:609476 NLK skos:exactMatch hgnc:NLK semapv:UnspecifiedMatching +OMIM:609476 NLK skos:exactMatch hgnc.symbol:29858 semapv:UnspecifiedMatching +OMIM:609476 NLK skos:exactMatch hgnc.symbol:NLK semapv:UnspecifiedMatching OMIM:609476 NLK skos:exactMatch ncbigene:51701 semapv:UnspecifiedMatching -OMIM:609477 SMCO4 skos:exactMatch hgnc:SMCO4 semapv:UnspecifiedMatching +OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:24810 semapv:UnspecifiedMatching +OMIM:609477 SMCO4 skos:exactMatch hgnc.symbol:SMCO4 semapv:UnspecifiedMatching OMIM:609477 SMCO4 skos:exactMatch ncbigene:56935 semapv:UnspecifiedMatching -OMIM:609478 ST8SIA3 skos:exactMatch hgnc:ST8SIA3 semapv:UnspecifiedMatching +OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:14269 semapv:UnspecifiedMatching +OMIM:609478 ST8SIA3 skos:exactMatch hgnc.symbol:ST8SIA3 semapv:UnspecifiedMatching OMIM:609478 ST8SIA3 skos:exactMatch ncbigene:51046 semapv:UnspecifiedMatching -OMIM:609479 MAP3K20 skos:exactMatch hgnc:MAP3K20 semapv:UnspecifiedMatching +OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:17797 semapv:UnspecifiedMatching +OMIM:609479 MAP3K20 skos:exactMatch hgnc.symbol:MAP3K20 semapv:UnspecifiedMatching OMIM:609479 MAP3K20 skos:exactMatch ncbigene:51776 semapv:UnspecifiedMatching -OMIM:609481 ISL2 skos:exactMatch hgnc:ISL2 semapv:UnspecifiedMatching +OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:18524 semapv:UnspecifiedMatching +OMIM:609481 ISL2 skos:exactMatch hgnc.symbol:ISL2 semapv:UnspecifiedMatching OMIM:609481 ISL2 skos:exactMatch ncbigene:64843 semapv:UnspecifiedMatching OMIM:609482 AGR3 skos:exactMatch UMLS:C1836117 semapv:UnspecifiedMatching -OMIM:609482 AGR3 skos:exactMatch hgnc:AGR3 semapv:UnspecifiedMatching +OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:24167 semapv:UnspecifiedMatching +OMIM:609482 AGR3 skos:exactMatch hgnc.symbol:AGR3 semapv:UnspecifiedMatching OMIM:609482 AGR3 skos:exactMatch ncbigene:155465 semapv:UnspecifiedMatching -OMIM:609483 FAM84B skos:exactMatch hgnc:LRATD2 semapv:UnspecifiedMatching +OMIM:609483 FAM84B skos:exactMatch hgnc.symbol:24166 semapv:UnspecifiedMatching +OMIM:609483 FAM84B skos:exactMatch hgnc.symbol:LRATD2 semapv:UnspecifiedMatching OMIM:609483 FAM84B skos:exactMatch ncbigene:157638 semapv:UnspecifiedMatching -OMIM:609484 LYPD3 skos:exactMatch hgnc:LYPD3 semapv:UnspecifiedMatching +OMIM:609484 LYPD3 skos:exactMatch hgnc.symbol:24880 semapv:UnspecifiedMatching +OMIM:609484 LYPD3 skos:exactMatch hgnc.symbol:LYPD3 semapv:UnspecifiedMatching OMIM:609484 LYPD3 skos:exactMatch ncbigene:27076 semapv:UnspecifiedMatching -OMIM:609485 MOAP1 skos:exactMatch hgnc:MOAP1 semapv:UnspecifiedMatching +OMIM:609485 MOAP1 skos:exactMatch hgnc.symbol:16658 semapv:UnspecifiedMatching +OMIM:609485 MOAP1 skos:exactMatch hgnc.symbol:MOAP1 semapv:UnspecifiedMatching OMIM:609485 MOAP1 skos:exactMatch ncbigene:64112 semapv:UnspecifiedMatching -OMIM:609486 EAPP skos:exactMatch hgnc:EAPP semapv:UnspecifiedMatching +OMIM:609486 EAPP skos:exactMatch hgnc.symbol:19312 semapv:UnspecifiedMatching +OMIM:609486 EAPP skos:exactMatch hgnc.symbol:EAPP semapv:UnspecifiedMatching OMIM:609486 EAPP skos:exactMatch ncbigene:55837 semapv:UnspecifiedMatching -OMIM:609487 MAP3K2 skos:exactMatch hgnc:MAP3K2 semapv:UnspecifiedMatching +OMIM:609487 MAP3K2 skos:exactMatch hgnc.symbol:6854 semapv:UnspecifiedMatching +OMIM:609487 MAP3K2 skos:exactMatch hgnc.symbol:MAP3K2 semapv:UnspecifiedMatching OMIM:609487 MAP3K2 skos:exactMatch ncbigene:10746 semapv:UnspecifiedMatching -OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc:CCDC110 semapv:UnspecifiedMatching +OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc.symbol:28504 semapv:UnspecifiedMatching +OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch hgnc.symbol:CCDC110 semapv:UnspecifiedMatching OMIM:609488 cancer/testis antigen km-hn-1 skos:exactMatch ncbigene:256309 semapv:UnspecifiedMatching -OMIM:609489 MANBA skos:exactMatch hgnc:MANBA semapv:UnspecifiedMatching +OMIM:609489 MANBA skos:exactMatch hgnc.symbol:6831 semapv:UnspecifiedMatching +OMIM:609489 MANBA skos:exactMatch hgnc.symbol:MANBA semapv:UnspecifiedMatching OMIM:609489 MANBA skos:exactMatch ncbigene:4126 semapv:UnspecifiedMatching -OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch hgnc:CARD17P semapv:UnspecifiedMatching +OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch hgnc.symbol:CARD17P semapv:UnspecifiedMatching OMIM:609490 inhibitory caspase recruitment domain protein skos:exactMatch ncbigene:440068 semapv:UnspecifiedMatching -OMIM:609491 GPSM1 skos:exactMatch hgnc:GPSM1 semapv:UnspecifiedMatching +OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:17858 semapv:UnspecifiedMatching +OMIM:609491 GPSM1 skos:exactMatch hgnc.symbol:GPSM1 semapv:UnspecifiedMatching OMIM:609491 GPSM1 skos:exactMatch ncbigene:26086 semapv:UnspecifiedMatching -OMIM:609492 RASSF2 skos:exactMatch hgnc:RASSF2 semapv:UnspecifiedMatching +OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:9883 semapv:UnspecifiedMatching +OMIM:609492 RASSF2 skos:exactMatch hgnc.symbol:RASSF2 semapv:UnspecifiedMatching OMIM:609492 RASSF2 skos:exactMatch ncbigene:9770 semapv:UnspecifiedMatching -OMIM:609493 SLC2A4RG skos:exactMatch hgnc:SLC2A4RG semapv:UnspecifiedMatching +OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:15930 semapv:UnspecifiedMatching +OMIM:609493 SLC2A4RG skos:exactMatch hgnc.symbol:SLC2A4RG semapv:UnspecifiedMatching OMIM:609493 SLC2A4RG skos:exactMatch ncbigene:56731 semapv:UnspecifiedMatching -OMIM:609494 ZNF395 skos:exactMatch hgnc:ZNF395 semapv:UnspecifiedMatching +OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:18737 semapv:UnspecifiedMatching +OMIM:609494 ZNF395 skos:exactMatch hgnc.symbol:ZNF395 semapv:UnspecifiedMatching OMIM:609494 ZNF395 skos:exactMatch ncbigene:55893 semapv:UnspecifiedMatching -OMIM:609495 GGNBP1 skos:exactMatch hgnc:GGNBP1 semapv:UnspecifiedMatching +OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:19427 semapv:UnspecifiedMatching +OMIM:609495 GGNBP1 skos:exactMatch hgnc.symbol:GGNBP1 semapv:UnspecifiedMatching OMIM:609495 GGNBP1 skos:exactMatch ncbigene:449520 semapv:UnspecifiedMatching -OMIM:609497 ERAP2 skos:exactMatch hgnc:ERAP2 semapv:UnspecifiedMatching +OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:29499 semapv:UnspecifiedMatching +OMIM:609497 ERAP2 skos:exactMatch hgnc.symbol:ERAP2 semapv:UnspecifiedMatching OMIM:609497 ERAP2 skos:exactMatch ncbigene:64167 semapv:UnspecifiedMatching -OMIM:609498 f-box only protein 47 skos:exactMatch hgnc:FBXO47 semapv:UnspecifiedMatching +OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:31969 semapv:UnspecifiedMatching +OMIM:609498 f-box only protein 47 skos:exactMatch hgnc.symbol:FBXO47 semapv:UnspecifiedMatching OMIM:609498 f-box only protein 47 skos:exactMatch ncbigene:494188 semapv:UnspecifiedMatching -OMIM:609499 MCF2L skos:exactMatch hgnc:MCF2L semapv:UnspecifiedMatching +OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:14576 semapv:UnspecifiedMatching +OMIM:609499 MCF2L skos:exactMatch hgnc.symbol:MCF2L semapv:UnspecifiedMatching OMIM:609499 MCF2L skos:exactMatch ncbigene:23263 semapv:UnspecifiedMatching -OMIM:609501 TDRKH skos:exactMatch hgnc:TDRKH semapv:UnspecifiedMatching +OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:11713 semapv:UnspecifiedMatching +OMIM:609501 TDRKH skos:exactMatch hgnc.symbol:TDRKH semapv:UnspecifiedMatching OMIM:609501 TDRKH skos:exactMatch ncbigene:11022 semapv:UnspecifiedMatching -OMIM:609502 CDHR1 skos:exactMatch hgnc:CDHR1 semapv:UnspecifiedMatching +OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:14550 semapv:UnspecifiedMatching +OMIM:609502 CDHR1 skos:exactMatch hgnc.symbol:CDHR1 semapv:UnspecifiedMatching OMIM:609502 CDHR1 skos:exactMatch ncbigene:92211 semapv:UnspecifiedMatching -OMIM:609503 THEG skos:exactMatch UMLS:C1422153 semapv:UnspecifiedMatching -OMIM:609503 THEG skos:exactMatch hgnc:SPMAP2 semapv:UnspecifiedMatching -OMIM:609503 THEG skos:exactMatch ncbigene:51298 semapv:UnspecifiedMatching +OMIM:609503 SPMAP2 skos:exactMatch UMLS:C1422153 semapv:UnspecifiedMatching +OMIM:609503 SPMAP2 skos:exactMatch hgnc.symbol:SPMAP2 semapv:UnspecifiedMatching +OMIM:609503 SPMAP2 skos:exactMatch ncbigene:51298 semapv:UnspecifiedMatching OMIM:609504 MCRS1 skos:exactMatch UMLS:C1417080 semapv:UnspecifiedMatching -OMIM:609504 MCRS1 skos:exactMatch hgnc:MCRS1 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:6960 semapv:UnspecifiedMatching +OMIM:609504 MCRS1 skos:exactMatch hgnc.symbol:MCRS1 semapv:UnspecifiedMatching OMIM:609504 MCRS1 skos:exactMatch ncbigene:10445 semapv:UnspecifiedMatching -OMIM:609505 TRIM16 skos:exactMatch hgnc:TRIM16 semapv:UnspecifiedMatching +OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:17241 semapv:UnspecifiedMatching +OMIM:609505 TRIM16 skos:exactMatch hgnc.symbol:TRIM16 semapv:UnspecifiedMatching OMIM:609505 TRIM16 skos:exactMatch ncbigene:10626 semapv:UnspecifiedMatching -OMIM:609506 CYP27B1 skos:exactMatch hgnc:CYP27B1 semapv:UnspecifiedMatching +OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:2606 semapv:UnspecifiedMatching +OMIM:609506 CYP27B1 skos:exactMatch hgnc.symbol:CYP27B1 semapv:UnspecifiedMatching OMIM:609506 CYP27B1 skos:exactMatch ncbigene:1594 semapv:UnspecifiedMatching -OMIM:609507 TOPORS skos:exactMatch hgnc:TOPORS semapv:UnspecifiedMatching +OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:21653 semapv:UnspecifiedMatching +OMIM:609507 TOPORS skos:exactMatch hgnc.symbol:TOPORS semapv:UnspecifiedMatching OMIM:609507 TOPORS skos:exactMatch ncbigene:10210 semapv:UnspecifiedMatching -OMIM:609509 IL31 skos:exactMatch hgnc:IL31 semapv:UnspecifiedMatching +OMIM:609509 IL31 skos:exactMatch hgnc.symbol:19372 semapv:UnspecifiedMatching +OMIM:609509 IL31 skos:exactMatch hgnc.symbol:IL31 semapv:UnspecifiedMatching OMIM:609509 IL31 skos:exactMatch ncbigene:386653 semapv:UnspecifiedMatching -OMIM:609510 IL31RA skos:exactMatch hgnc:IL31RA semapv:UnspecifiedMatching +OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:18969 semapv:UnspecifiedMatching +OMIM:609510 IL31RA skos:exactMatch hgnc.symbol:IL31RA semapv:UnspecifiedMatching OMIM:609510 IL31RA skos:exactMatch ncbigene:133396 semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch UMLS:C1427116 semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:609511 RBSN skos:exactMatch hgnc:RBSN semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch hgnc.symbol:20759 semapv:UnspecifiedMatching +OMIM:609511 RBSN skos:exactMatch hgnc.symbol:RBSN semapv:UnspecifiedMatching OMIM:609511 RBSN skos:exactMatch ncbigene:64145 semapv:UnspecifiedMatching OMIM:609512 CHMP2B skos:exactMatch UMLS:C1538456 semapv:UnspecifiedMatching OMIM:609512 CHMP2B skos:exactMatch UMLS:C1836076 semapv:UnspecifiedMatching -OMIM:609512 CHMP2B skos:exactMatch hgnc:CHMP2B semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:24537 semapv:UnspecifiedMatching +OMIM:609512 CHMP2B skos:exactMatch hgnc.symbol:CHMP2B semapv:UnspecifiedMatching OMIM:609512 CHMP2B skos:exactMatch ncbigene:25978 semapv:UnspecifiedMatching -OMIM:609513 neuropeptide s skos:exactMatch hgnc:NPS semapv:UnspecifiedMatching +OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:33940 semapv:UnspecifiedMatching +OMIM:609513 neuropeptide s skos:exactMatch hgnc.symbol:NPS semapv:UnspecifiedMatching OMIM:609513 neuropeptide s skos:exactMatch ncbigene:594857 semapv:UnspecifiedMatching OMIM:609514 TAF8 skos:exactMatch UMLS:C1424885 semapv:UnspecifiedMatching -OMIM:609514 TAF8 skos:exactMatch hgnc:TAF8 semapv:UnspecifiedMatching +OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:17300 semapv:UnspecifiedMatching +OMIM:609514 TAF8 skos:exactMatch hgnc.symbol:TAF8 semapv:UnspecifiedMatching OMIM:609514 TAF8 skos:exactMatch ncbigene:129685 semapv:UnspecifiedMatching -OMIM:609516 ZNF382 skos:exactMatch hgnc:ZNF382 semapv:UnspecifiedMatching +OMIM:609516 ZNF382 skos:exactMatch hgnc.symbol:17409 semapv:UnspecifiedMatching +OMIM:609516 ZNF382 skos:exactMatch hgnc.symbol:ZNF382 semapv:UnspecifiedMatching OMIM:609516 ZNF382 skos:exactMatch ncbigene:84911 semapv:UnspecifiedMatching -OMIM:609517 TIAF1 skos:exactMatch hgnc:MYO18A semapv:UnspecifiedMatching +OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching +OMIM:609517 TIAF1 skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching OMIM:609517 TIAF1 skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching -OMIM:609518 THAP7 skos:exactMatch hgnc:THAP7 semapv:UnspecifiedMatching +OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:23190 semapv:UnspecifiedMatching +OMIM:609518 THAP7 skos:exactMatch hgnc.symbol:THAP7 semapv:UnspecifiedMatching OMIM:609518 THAP7 skos:exactMatch ncbigene:80764 semapv:UnspecifiedMatching -OMIM:609519 TFPT skos:exactMatch hgnc:TFPT semapv:UnspecifiedMatching +OMIM:609519 TFPT skos:exactMatch hgnc.symbol:13630 semapv:UnspecifiedMatching +OMIM:609519 TFPT skos:exactMatch hgnc.symbol:TFPT semapv:UnspecifiedMatching OMIM:609519 TFPT skos:exactMatch ncbigene:29844 semapv:UnspecifiedMatching -OMIM:609520 THAP1 skos:exactMatch hgnc:THAP1 semapv:UnspecifiedMatching +OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:20856 semapv:UnspecifiedMatching +OMIM:609520 THAP1 skos:exactMatch hgnc.symbol:THAP1 semapv:UnspecifiedMatching OMIM:609520 THAP1 skos:exactMatch ncbigene:55145 semapv:UnspecifiedMatching -OMIM:609521 SLC30A1 skos:exactMatch hgnc:SLC30A1 semapv:UnspecifiedMatching +OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:11012 semapv:UnspecifiedMatching +OMIM:609521 SLC30A1 skos:exactMatch hgnc.symbol:SLC30A1 semapv:UnspecifiedMatching OMIM:609521 SLC30A1 skos:exactMatch ncbigene:7779 semapv:UnspecifiedMatching -OMIM:609522 ELOA2 skos:exactMatch hgnc:ELOA2 semapv:UnspecifiedMatching +OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:30771 semapv:UnspecifiedMatching +OMIM:609522 ELOA2 skos:exactMatch hgnc.symbol:ELOA2 semapv:UnspecifiedMatching OMIM:609522 ELOA2 skos:exactMatch ncbigene:51224 semapv:UnspecifiedMatching -OMIM:609523 ALDH3A2 skos:exactMatch hgnc:ALDH3A2 semapv:UnspecifiedMatching +OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:403 semapv:UnspecifiedMatching +OMIM:609523 ALDH3A2 skos:exactMatch hgnc.symbol:ALDH3A2 semapv:UnspecifiedMatching OMIM:609523 ALDH3A2 skos:exactMatch ncbigene:224 semapv:UnspecifiedMatching OMIM:609525 METTL8 skos:exactMatch UMLS:C1825978 semapv:UnspecifiedMatching -OMIM:609525 METTL8 skos:exactMatch hgnc:METTL8 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:25856 semapv:UnspecifiedMatching +OMIM:609525 METTL8 skos:exactMatch hgnc.symbol:METTL8 semapv:UnspecifiedMatching OMIM:609525 METTL8 skos:exactMatch ncbigene:79828 semapv:UnspecifiedMatching -OMIM:609526 PLEKHG4 skos:exactMatch hgnc:PLEKHG4 semapv:UnspecifiedMatching +OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:24501 semapv:UnspecifiedMatching +OMIM:609526 PLEKHG4 skos:exactMatch hgnc.symbol:PLEKHG4 semapv:UnspecifiedMatching OMIM:609526 PLEKHG4 skos:exactMatch ncbigene:25894 semapv:UnspecifiedMatching -OMIM:609527 RAPGEF5 skos:exactMatch hgnc:RAPGEF5 semapv:UnspecifiedMatching +OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:16862 semapv:UnspecifiedMatching +OMIM:609527 RAPGEF5 skos:exactMatch hgnc.symbol:RAPGEF5 semapv:UnspecifiedMatching OMIM:609527 RAPGEF5 skos:exactMatch ncbigene:9771 semapv:UnspecifiedMatching -OMIM:609530 RAPGEF2 skos:exactMatch hgnc:RAPGEF2 semapv:UnspecifiedMatching +OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:16854 semapv:UnspecifiedMatching +OMIM:609530 RAPGEF2 skos:exactMatch hgnc.symbol:RAPGEF2 semapv:UnspecifiedMatching OMIM:609530 RAPGEF2 skos:exactMatch ncbigene:9693 semapv:UnspecifiedMatching -OMIM:609531 RASGRP3 skos:exactMatch hgnc:RASGRP3 semapv:UnspecifiedMatching +OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:14545 semapv:UnspecifiedMatching +OMIM:609531 RASGRP3 skos:exactMatch hgnc.symbol:RASGRP3 semapv:UnspecifiedMatching OMIM:609531 RASGRP3 skos:exactMatch ncbigene:25780 semapv:UnspecifiedMatching OMIM:609532 hepatitis c virus, susceptibility to skos:exactMatch UMLS:C1835407 semapv:UnspecifiedMatching -OMIM:609534 ATAD5 skos:exactMatch hgnc:ATAD5 semapv:UnspecifiedMatching +OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:25752 semapv:UnspecifiedMatching +OMIM:609534 ATAD5 skos:exactMatch hgnc.symbol:ATAD5 semapv:UnspecifiedMatching OMIM:609534 ATAD5 skos:exactMatch ncbigene:79915 semapv:UnspecifiedMatching -OMIM:609538 PTPMT1 skos:exactMatch hgnc:PTPMT1 semapv:UnspecifiedMatching +OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:26965 semapv:UnspecifiedMatching +OMIM:609538 PTPMT1 skos:exactMatch hgnc.symbol:PTPMT1 semapv:UnspecifiedMatching OMIM:609538 PTPMT1 skos:exactMatch ncbigene:114971 semapv:UnspecifiedMatching -OMIM:609539 ARID2 skos:exactMatch hgnc:ARID2 semapv:UnspecifiedMatching +OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:18037 semapv:UnspecifiedMatching +OMIM:609539 ARID2 skos:exactMatch hgnc.symbol:ARID2 semapv:UnspecifiedMatching OMIM:609539 ARID2 skos:exactMatch ncbigene:196528 semapv:UnspecifiedMatching -OMIM:609540 SKIC8 skos:exactMatch hgnc:SKIC8 semapv:UnspecifiedMatching +OMIM:609540 SKIC8 skos:exactMatch hgnc.symbol:SKIC8 semapv:UnspecifiedMatching OMIM:609540 SKIC8 skos:exactMatch ncbigene:80349 semapv:UnspecifiedMatching -OMIM:609542 ATP8A1 skos:exactMatch hgnc:ATP8A1 semapv:UnspecifiedMatching +OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:13531 semapv:UnspecifiedMatching +OMIM:609542 ATP8A1 skos:exactMatch hgnc.symbol:ATP8A1 semapv:UnspecifiedMatching OMIM:609542 ATP8A1 skos:exactMatch ncbigene:10396 semapv:UnspecifiedMatching -OMIM:609543 LINC00293 skos:exactMatch hgnc:LINC00293 semapv:UnspecifiedMatching +OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:39078 semapv:UnspecifiedMatching +OMIM:609543 LINC00293 skos:exactMatch hgnc.symbol:LINC00293 semapv:UnspecifiedMatching OMIM:609543 LINC00293 skos:exactMatch ncbigene:497634 semapv:UnspecifiedMatching -OMIM:609544 CCP110 skos:exactMatch hgnc:CCP110 semapv:UnspecifiedMatching +OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:24342 semapv:UnspecifiedMatching +OMIM:609544 CCP110 skos:exactMatch hgnc.symbol:CCP110 semapv:UnspecifiedMatching OMIM:609544 CCP110 skos:exactMatch ncbigene:9738 semapv:UnspecifiedMatching -OMIM:609546 USP29 skos:exactMatch hgnc:USP29 semapv:UnspecifiedMatching +OMIM:609546 USP29 skos:exactMatch hgnc.symbol:18563 semapv:UnspecifiedMatching +OMIM:609546 USP29 skos:exactMatch hgnc.symbol:USP29 semapv:UnspecifiedMatching OMIM:609546 USP29 skos:exactMatch ncbigene:57663 semapv:UnspecifiedMatching -OMIM:609548 LMAN1L skos:exactMatch hgnc:LMAN1L semapv:UnspecifiedMatching +OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:6632 semapv:UnspecifiedMatching +OMIM:609548 LMAN1L skos:exactMatch hgnc.symbol:LMAN1L semapv:UnspecifiedMatching OMIM:609548 LMAN1L skos:exactMatch ncbigene:79748 semapv:UnspecifiedMatching -OMIM:609550 ZNF330 skos:exactMatch hgnc:ZNF330 semapv:UnspecifiedMatching +OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:15462 semapv:UnspecifiedMatching +OMIM:609550 ZNF330 skos:exactMatch hgnc.symbol:ZNF330 semapv:UnspecifiedMatching OMIM:609550 ZNF330 skos:exactMatch ncbigene:27309 semapv:UnspecifiedMatching -OMIM:609551 LMAN2 skos:exactMatch hgnc:LMAN2 semapv:UnspecifiedMatching +OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:16986 semapv:UnspecifiedMatching +OMIM:609551 LMAN2 skos:exactMatch hgnc.symbol:LMAN2 semapv:UnspecifiedMatching OMIM:609551 LMAN2 skos:exactMatch ncbigene:10960 semapv:UnspecifiedMatching -OMIM:609552 LMAN2L skos:exactMatch hgnc:LMAN2L semapv:UnspecifiedMatching +OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:19263 semapv:UnspecifiedMatching +OMIM:609552 LMAN2L skos:exactMatch hgnc.symbol:LMAN2L semapv:UnspecifiedMatching OMIM:609552 LMAN2L skos:exactMatch ncbigene:81562 semapv:UnspecifiedMatching -OMIM:609553 retbindin skos:exactMatch hgnc:RTBDN semapv:UnspecifiedMatching +OMIM:609553 retbindin skos:exactMatch hgnc.symbol:30310 semapv:UnspecifiedMatching +OMIM:609553 retbindin skos:exactMatch hgnc.symbol:RTBDN semapv:UnspecifiedMatching OMIM:609553 retbindin skos:exactMatch ncbigene:83546 semapv:UnspecifiedMatching -OMIM:609554 ITM2C skos:exactMatch hgnc:ITM2C semapv:UnspecifiedMatching +OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:6175 semapv:UnspecifiedMatching +OMIM:609554 ITM2C skos:exactMatch hgnc.symbol:ITM2C semapv:UnspecifiedMatching OMIM:609554 ITM2C skos:exactMatch ncbigene:81618 semapv:UnspecifiedMatching -OMIM:609555 CPXM1 skos:exactMatch hgnc:CPXM1 semapv:UnspecifiedMatching +OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:15771 semapv:UnspecifiedMatching +OMIM:609555 CPXM1 skos:exactMatch hgnc.symbol:CPXM1 semapv:UnspecifiedMatching OMIM:609555 CPXM1 skos:exactMatch ncbigene:56265 semapv:UnspecifiedMatching OMIM:609556 ATP13A4 skos:exactMatch UMLS:C1540217 semapv:UnspecifiedMatching -OMIM:609556 ATP13A4 skos:exactMatch hgnc:ATP13A4 semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:25422 semapv:UnspecifiedMatching +OMIM:609556 ATP13A4 skos:exactMatch hgnc.symbol:ATP13A4 semapv:UnspecifiedMatching OMIM:609556 ATP13A4 skos:exactMatch ncbigene:84239 semapv:UnspecifiedMatching -OMIM:609557 PREPL skos:exactMatch hgnc:PREPL semapv:UnspecifiedMatching +OMIM:609557 PREPL skos:exactMatch hgnc.symbol:30228 semapv:UnspecifiedMatching +OMIM:609557 PREPL skos:exactMatch hgnc.symbol:PREPL semapv:UnspecifiedMatching OMIM:609557 PREPL skos:exactMatch ncbigene:9581 semapv:UnspecifiedMatching -OMIM:609559 CAMKMT skos:exactMatch hgnc:CAMKMT semapv:UnspecifiedMatching +OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:26276 semapv:UnspecifiedMatching +OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:CAMKMT semapv:UnspecifiedMatching OMIM:609559 CAMKMT skos:exactMatch ncbigene:79823 semapv:UnspecifiedMatching -OMIM:609561 CPA5 skos:exactMatch hgnc:CPA5 semapv:UnspecifiedMatching +OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:15722 semapv:UnspecifiedMatching +OMIM:609561 CPA5 skos:exactMatch hgnc.symbol:CPA5 semapv:UnspecifiedMatching OMIM:609561 CPA5 skos:exactMatch ncbigene:93979 semapv:UnspecifiedMatching -OMIM:609562 CPA6 skos:exactMatch hgnc:CPA6 semapv:UnspecifiedMatching +OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:17245 semapv:UnspecifiedMatching +OMIM:609562 CPA6 skos:exactMatch hgnc.symbol:CPA6 semapv:UnspecifiedMatching OMIM:609562 CPA6 skos:exactMatch ncbigene:57094 semapv:UnspecifiedMatching -OMIM:609563 CPO skos:exactMatch hgnc:CPO semapv:UnspecifiedMatching +OMIM:609563 CPO skos:exactMatch hgnc.symbol:21011 semapv:UnspecifiedMatching +OMIM:609563 CPO skos:exactMatch hgnc.symbol:CPO semapv:UnspecifiedMatching OMIM:609563 CPO skos:exactMatch ncbigene:130749 semapv:UnspecifiedMatching -OMIM:609564 PARP10 skos:exactMatch hgnc:PARP10 semapv:UnspecifiedMatching +OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:25895 semapv:UnspecifiedMatching +OMIM:609564 PARP10 skos:exactMatch hgnc.symbol:PARP10 semapv:UnspecifiedMatching OMIM:609564 PARP10 skos:exactMatch ncbigene:84875 semapv:UnspecifiedMatching -OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc:MCEMP1 semapv:UnspecifiedMatching +OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:27291 semapv:UnspecifiedMatching +OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:MCEMP1 semapv:UnspecifiedMatching OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch ncbigene:199675 semapv:UnspecifiedMatching -OMIM:609567 PNPLA3 skos:exactMatch hgnc:PNPLA3 semapv:UnspecifiedMatching +OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:18590 semapv:UnspecifiedMatching +OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:PNPLA3 semapv:UnspecifiedMatching OMIM:609567 PNPLA3 skos:exactMatch ncbigene:80339 semapv:UnspecifiedMatching -OMIM:609568 ARHGAP20 skos:exactMatch hgnc:ARHGAP20 semapv:UnspecifiedMatching +OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:18357 semapv:UnspecifiedMatching +OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:ARHGAP20 semapv:UnspecifiedMatching OMIM:609568 ARHGAP20 skos:exactMatch ncbigene:57569 semapv:UnspecifiedMatching -OMIM:609571 ZNF699 skos:exactMatch hgnc:ZNF699 semapv:UnspecifiedMatching +OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:24750 semapv:UnspecifiedMatching +OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:ZNF699 semapv:UnspecifiedMatching OMIM:609571 ZNF699 skos:exactMatch ncbigene:374879 semapv:UnspecifiedMatching -OMIM:609574 HSD17B12 skos:exactMatch hgnc:HSD17B12 semapv:UnspecifiedMatching +OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:18646 semapv:UnspecifiedMatching +OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:HSD17B12 semapv:UnspecifiedMatching OMIM:609574 HSD17B12 skos:exactMatch ncbigene:51144 semapv:UnspecifiedMatching -OMIM:609575 ACADVL skos:exactMatch hgnc:ACADVL semapv:UnspecifiedMatching +OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:92 semapv:UnspecifiedMatching +OMIM:609575 ACADVL skos:exactMatch hgnc.symbol:ACADVL semapv:UnspecifiedMatching OMIM:609575 ACADVL skos:exactMatch ncbigene:37 semapv:UnspecifiedMatching -OMIM:609576 ACADL skos:exactMatch hgnc:ACADL semapv:UnspecifiedMatching +OMIM:609576 ACADL skos:exactMatch hgnc.symbol:88 semapv:UnspecifiedMatching +OMIM:609576 ACADL skos:exactMatch hgnc.symbol:ACADL semapv:UnspecifiedMatching OMIM:609576 ACADL skos:exactMatch ncbigene:33 semapv:UnspecifiedMatching -OMIM:609577 CUL7 skos:exactMatch hgnc:CUL7 semapv:UnspecifiedMatching +OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:21024 semapv:UnspecifiedMatching +OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:CUL7 semapv:UnspecifiedMatching OMIM:609577 CUL7 skos:exactMatch ncbigene:9820 semapv:UnspecifiedMatching -OMIM:609580 NINL skos:exactMatch hgnc:NINL semapv:UnspecifiedMatching +OMIM:609580 NINL skos:exactMatch hgnc.symbol:29163 semapv:UnspecifiedMatching +OMIM:609580 NINL skos:exactMatch hgnc.symbol:NINL semapv:UnspecifiedMatching OMIM:609580 NINL skos:exactMatch ncbigene:22981 semapv:UnspecifiedMatching -OMIM:609582 MIR122A skos:exactMatch hgnc:MIR122 semapv:UnspecifiedMatching +OMIM:609582 MIR122A skos:exactMatch hgnc.symbol:31501 semapv:UnspecifiedMatching +OMIM:609582 MIR122A skos:exactMatch hgnc.symbol:MIR122 semapv:UnspecifiedMatching OMIM:609582 MIR122A skos:exactMatch ncbigene:406906 semapv:UnspecifiedMatching -OMIM:609584 L2HGDH skos:exactMatch hgnc:L2HGDH semapv:UnspecifiedMatching +OMIM:609584 L2HGDH skos:exactMatch hgnc.symbol:20499 semapv:UnspecifiedMatching +OMIM:609584 L2HGDH skos:exactMatch hgnc.symbol:L2HGDH semapv:UnspecifiedMatching OMIM:609584 L2HGDH skos:exactMatch ncbigene:79944 semapv:UnspecifiedMatching -OMIM:609585 CPLX3 skos:exactMatch hgnc:CPLX3 semapv:UnspecifiedMatching +OMIM:609585 CPLX3 skos:exactMatch hgnc.symbol:27652 semapv:UnspecifiedMatching +OMIM:609585 CPLX3 skos:exactMatch hgnc.symbol:CPLX3 semapv:UnspecifiedMatching OMIM:609585 CPLX3 skos:exactMatch ncbigene:594855 semapv:UnspecifiedMatching -OMIM:609586 CPLX4 skos:exactMatch hgnc:CPLX4 semapv:UnspecifiedMatching +OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:24330 semapv:UnspecifiedMatching +OMIM:609586 CPLX4 skos:exactMatch hgnc.symbol:CPLX4 semapv:UnspecifiedMatching OMIM:609586 CPLX4 skos:exactMatch ncbigene:339302 semapv:UnspecifiedMatching -OMIM:609587 RCC2 skos:exactMatch hgnc:RCC2 semapv:UnspecifiedMatching +OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:30297 semapv:UnspecifiedMatching +OMIM:609587 RCC2 skos:exactMatch hgnc.symbol:RCC2 semapv:UnspecifiedMatching OMIM:609587 RCC2 skos:exactMatch ncbigene:55920 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch UMLS:C1825372 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225178 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch UMLS:C4225507 semapv:UnspecifiedMatching -OMIM:609588 GLRX5 skos:exactMatch hgnc:GLRX5 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:20134 semapv:UnspecifiedMatching +OMIM:609588 GLRX5 skos:exactMatch hgnc.symbol:GLRX5 semapv:UnspecifiedMatching OMIM:609588 GLRX5 skos:exactMatch ncbigene:51218 semapv:UnspecifiedMatching -OMIM:609589 MTUS1 skos:exactMatch hgnc:MTUS1 semapv:UnspecifiedMatching +OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:29789 semapv:UnspecifiedMatching +OMIM:609589 MTUS1 skos:exactMatch hgnc.symbol:MTUS1 semapv:UnspecifiedMatching OMIM:609589 MTUS1 skos:exactMatch ncbigene:57509 semapv:UnspecifiedMatching OMIM:609590 QKI skos:exactMatch UMLS:C1427319 semapv:UnspecifiedMatching -OMIM:609590 QKI skos:exactMatch hgnc:QKI semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch hgnc.symbol:21100 semapv:UnspecifiedMatching +OMIM:609590 QKI skos:exactMatch hgnc.symbol:QKI semapv:UnspecifiedMatching OMIM:609590 QKI skos:exactMatch ncbigene:9444 semapv:UnspecifiedMatching -OMIM:609591 RIT1 skos:exactMatch hgnc:RIT1 semapv:UnspecifiedMatching +OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:10023 semapv:UnspecifiedMatching +OMIM:609591 RIT1 skos:exactMatch hgnc.symbol:RIT1 semapv:UnspecifiedMatching OMIM:609591 RIT1 skos:exactMatch ncbigene:6016 semapv:UnspecifiedMatching -OMIM:609592 RIT2 skos:exactMatch hgnc:RIT2 semapv:UnspecifiedMatching +OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:10017 semapv:UnspecifiedMatching +OMIM:609592 RIT2 skos:exactMatch hgnc.symbol:RIT2 semapv:UnspecifiedMatching OMIM:609592 RIT2 skos:exactMatch ncbigene:6014 semapv:UnspecifiedMatching -OMIM:609593 CARMIL1 skos:exactMatch hgnc:CARMIL1 semapv:UnspecifiedMatching +OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:21581 semapv:UnspecifiedMatching +OMIM:609593 CARMIL1 skos:exactMatch hgnc.symbol:CARMIL1 semapv:UnspecifiedMatching OMIM:609593 CARMIL1 skos:exactMatch ncbigene:55604 semapv:UnspecifiedMatching -OMIM:609594 VEPH1 skos:exactMatch hgnc:VEPH1 semapv:UnspecifiedMatching +OMIM:609594 VEPH1 skos:exactMatch hgnc.symbol:25735 semapv:UnspecifiedMatching +OMIM:609594 VEPH1 skos:exactMatch hgnc.symbol:VEPH1 semapv:UnspecifiedMatching OMIM:609594 VEPH1 skos:exactMatch ncbigene:79674 semapv:UnspecifiedMatching -OMIM:609595 RSPO1 skos:exactMatch hgnc:RSPO1 semapv:UnspecifiedMatching +OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:21679 semapv:UnspecifiedMatching +OMIM:609595 RSPO1 skos:exactMatch hgnc.symbol:RSPO1 semapv:UnspecifiedMatching OMIM:609595 RSPO1 skos:exactMatch ncbigene:284654 semapv:UnspecifiedMatching -OMIM:609596 EIF3K skos:exactMatch hgnc:EIF3K semapv:UnspecifiedMatching +OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:24656 semapv:UnspecifiedMatching +OMIM:609596 EIF3K skos:exactMatch hgnc.symbol:EIF3K semapv:UnspecifiedMatching OMIM:609596 EIF3K skos:exactMatch ncbigene:27335 semapv:UnspecifiedMatching +OMIM:609597 parietal foramina 2 skos:exactMatch Orphanet:60015 semapv:UnspecifiedMatching OMIM:609597 parietal foramina 2 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching -OMIM:609597 parietal foramina 2 skos:exactMatch orphanet.ordo:60015 semapv:UnspecifiedMatching -OMIM:609598 ZHX3 skos:exactMatch hgnc:ZHX3 semapv:UnspecifiedMatching +OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:15935 semapv:UnspecifiedMatching +OMIM:609598 ZHX3 skos:exactMatch hgnc.symbol:ZHX3 semapv:UnspecifiedMatching OMIM:609598 ZHX3 skos:exactMatch ncbigene:23051 semapv:UnspecifiedMatching -OMIM:609599 ANKRD1 skos:exactMatch hgnc:ANKRD1 semapv:UnspecifiedMatching +OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:15819 semapv:UnspecifiedMatching +OMIM:609599 ANKRD1 skos:exactMatch hgnc.symbol:ANKRD1 semapv:UnspecifiedMatching OMIM:609599 ANKRD1 skos:exactMatch ncbigene:27063 semapv:UnspecifiedMatching -OMIM:609600 ZNF396 skos:exactMatch hgnc:ZNF396 semapv:UnspecifiedMatching +OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:18824 semapv:UnspecifiedMatching +OMIM:609600 ZNF396 skos:exactMatch hgnc.symbol:ZNF396 semapv:UnspecifiedMatching OMIM:609600 ZNF396 skos:exactMatch ncbigene:252884 semapv:UnspecifiedMatching -OMIM:609601 ZNF397 skos:exactMatch hgnc:ZNF397 semapv:UnspecifiedMatching +OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:18818 semapv:UnspecifiedMatching +OMIM:609601 ZNF397 skos:exactMatch hgnc.symbol:ZNF397 semapv:UnspecifiedMatching OMIM:609601 ZNF397 skos:exactMatch ncbigene:84307 semapv:UnspecifiedMatching -OMIM:609602 KLF17 skos:exactMatch hgnc:KLF17 semapv:UnspecifiedMatching +OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:18830 semapv:UnspecifiedMatching +OMIM:609602 KLF17 skos:exactMatch hgnc.symbol:KLF17 semapv:UnspecifiedMatching OMIM:609602 KLF17 skos:exactMatch ncbigene:128209 semapv:UnspecifiedMatching -OMIM:609603 CRYGN skos:exactMatch hgnc:CRYGN semapv:UnspecifiedMatching +OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:20458 semapv:UnspecifiedMatching +OMIM:609603 CRYGN skos:exactMatch hgnc.symbol:CRYGN semapv:UnspecifiedMatching OMIM:609603 CRYGN skos:exactMatch ncbigene:155051 semapv:UnspecifiedMatching -OMIM:609604 MAP1LC3B skos:exactMatch hgnc:MAP1LC3B semapv:UnspecifiedMatching +OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:13352 semapv:UnspecifiedMatching +OMIM:609604 MAP1LC3B skos:exactMatch hgnc.symbol:MAP1LC3B semapv:UnspecifiedMatching OMIM:609604 MAP1LC3B skos:exactMatch ncbigene:81631 semapv:UnspecifiedMatching -OMIM:609605 MAP1LC3C skos:exactMatch hgnc:MAP1LC3C semapv:UnspecifiedMatching +OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:13353 semapv:UnspecifiedMatching +OMIM:609605 MAP1LC3C skos:exactMatch hgnc.symbol:MAP1LC3C semapv:UnspecifiedMatching OMIM:609605 MAP1LC3C skos:exactMatch ncbigene:440738 semapv:UnspecifiedMatching OMIM:609606 ATG3 skos:exactMatch UMLS:C1825493 semapv:UnspecifiedMatching -OMIM:609606 ATG3 skos:exactMatch hgnc:ATG3 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:20962 semapv:UnspecifiedMatching +OMIM:609606 ATG3 skos:exactMatch hgnc.symbol:ATG3 semapv:UnspecifiedMatching OMIM:609606 ATG3 skos:exactMatch ncbigene:64422 semapv:UnspecifiedMatching -OMIM:609607 NECTIN4 skos:exactMatch hgnc:NECTIN4 semapv:UnspecifiedMatching +OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:19688 semapv:UnspecifiedMatching +OMIM:609607 NECTIN4 skos:exactMatch hgnc.symbol:NECTIN4 semapv:UnspecifiedMatching OMIM:609607 NECTIN4 skos:exactMatch ncbigene:81607 semapv:UnspecifiedMatching OMIM:609608 ATG12 skos:exactMatch UMLS:C1865043 semapv:UnspecifiedMatching -OMIM:609608 ATG12 skos:exactMatch hgnc:ATG12 semapv:UnspecifiedMatching +OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:588 semapv:UnspecifiedMatching +OMIM:609608 ATG12 skos:exactMatch hgnc.symbol:ATG12 semapv:UnspecifiedMatching OMIM:609608 ATG12 skos:exactMatch ncbigene:9140 semapv:UnspecifiedMatching -OMIM:609610 TUBGCP4 skos:exactMatch hgnc:TUBGCP4 semapv:UnspecifiedMatching +OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:16691 semapv:UnspecifiedMatching +OMIM:609610 TUBGCP4 skos:exactMatch hgnc.symbol:TUBGCP4 semapv:UnspecifiedMatching OMIM:609610 TUBGCP4 skos:exactMatch ncbigene:27229 semapv:UnspecifiedMatching -OMIM:609611 ANP32E skos:exactMatch hgnc:ANP32E semapv:UnspecifiedMatching +OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:16673 semapv:UnspecifiedMatching +OMIM:609611 ANP32E skos:exactMatch hgnc.symbol:ANP32E semapv:UnspecifiedMatching OMIM:609611 ANP32E skos:exactMatch ncbigene:81611 semapv:UnspecifiedMatching -OMIM:609613 PLEKHM2 skos:exactMatch hgnc:PLEKHM2 semapv:UnspecifiedMatching +OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:29131 semapv:UnspecifiedMatching +OMIM:609613 PLEKHM2 skos:exactMatch hgnc.symbol:PLEKHM2 semapv:UnspecifiedMatching OMIM:609613 PLEKHM2 skos:exactMatch ncbigene:23207 semapv:UnspecifiedMatching OMIM:609614 REXO1 skos:exactMatch UMLS:C1826798 semapv:UnspecifiedMatching -OMIM:609614 REXO1 skos:exactMatch hgnc:REXO1 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:24616 semapv:UnspecifiedMatching +OMIM:609614 REXO1 skos:exactMatch hgnc.symbol:REXO1 semapv:UnspecifiedMatching OMIM:609614 REXO1 skos:exactMatch ncbigene:57455 semapv:UnspecifiedMatching -OMIM:609615 QTRT1 skos:exactMatch hgnc:QTRT1 semapv:UnspecifiedMatching +OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:23797 semapv:UnspecifiedMatching +OMIM:609615 QTRT1 skos:exactMatch hgnc.symbol:QTRT1 semapv:UnspecifiedMatching OMIM:609615 QTRT1 skos:exactMatch ncbigene:81890 semapv:UnspecifiedMatching -OMIM:609617 SLC30A2 skos:exactMatch hgnc:SLC30A2 semapv:UnspecifiedMatching +OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:11013 semapv:UnspecifiedMatching +OMIM:609617 SLC30A2 skos:exactMatch hgnc.symbol:SLC30A2 semapv:UnspecifiedMatching OMIM:609617 SLC30A2 skos:exactMatch ncbigene:7780 semapv:UnspecifiedMatching -OMIM:609618 NRON skos:exactMatch hgnc:NRON semapv:UnspecifiedMatching +OMIM:609618 NRON skos:exactMatch hgnc.symbol:37079 semapv:UnspecifiedMatching +OMIM:609618 NRON skos:exactMatch hgnc.symbol:NRON semapv:UnspecifiedMatching OMIM:609618 NRON skos:exactMatch ncbigene:641373 semapv:UnspecifiedMatching -OMIM:609619 GOLGA8B skos:exactMatch hgnc:GOLGA8B semapv:UnspecifiedMatching +OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:31973 semapv:UnspecifiedMatching +OMIM:609619 GOLGA8B skos:exactMatch hgnc.symbol:GOLGA8B semapv:UnspecifiedMatching OMIM:609619 GOLGA8B skos:exactMatch ncbigene:440270 semapv:UnspecifiedMatching -OMIM:609623 RASIP1 skos:exactMatch hgnc:RASIP1 semapv:UnspecifiedMatching +OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:24716 semapv:UnspecifiedMatching +OMIM:609623 RASIP1 skos:exactMatch hgnc.symbol:RASIP1 semapv:UnspecifiedMatching OMIM:609623 RASIP1 skos:exactMatch ncbigene:54922 semapv:UnspecifiedMatching -OMIM:609624 MCCD1 skos:exactMatch hgnc:MCCD1 semapv:UnspecifiedMatching +OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:20668 semapv:UnspecifiedMatching +OMIM:609624 MCCD1 skos:exactMatch hgnc.symbol:MCCD1 semapv:UnspecifiedMatching OMIM:609624 MCCD1 skos:exactMatch ncbigene:401250 semapv:UnspecifiedMatching -OMIM:609626 MDGA1 skos:exactMatch hgnc:MDGA1 semapv:UnspecifiedMatching +OMIM:609626 MDGA1 skos:exactMatch hgnc.symbol:19267 semapv:UnspecifiedMatching +OMIM:609626 MDGA1 skos:exactMatch hgnc.symbol:MDGA1 semapv:UnspecifiedMatching OMIM:609626 MDGA1 skos:exactMatch ncbigene:266727 semapv:UnspecifiedMatching -OMIM:609627 TAS2R50 skos:exactMatch hgnc:TAS2R50 semapv:UnspecifiedMatching +OMIM:609627 TAS2R50 skos:exactMatch hgnc.symbol:18882 semapv:UnspecifiedMatching +OMIM:609627 TAS2R50 skos:exactMatch hgnc.symbol:TAS2R50 semapv:UnspecifiedMatching OMIM:609627 TAS2R50 skos:exactMatch ncbigene:259296 semapv:UnspecifiedMatching OMIM:609631 DDX58 skos:exactMatch UMLS:C1539233 semapv:UnspecifiedMatching OMIM:609631 DDX58 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching -OMIM:609631 DDX58 skos:exactMatch hgnc:RIGI semapv:UnspecifiedMatching +OMIM:609631 DDX58 skos:exactMatch hgnc.symbol:RIGI semapv:UnspecifiedMatching OMIM:609631 DDX58 skos:exactMatch ncbigene:23586 semapv:UnspecifiedMatching -OMIM:609632 GDPD5 skos:exactMatch hgnc:GDPD5 semapv:UnspecifiedMatching +OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:28804 semapv:UnspecifiedMatching +OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:GDPD5 semapv:UnspecifiedMatching OMIM:609632 GDPD5 skos:exactMatch ncbigene:81544 semapv:UnspecifiedMatching +OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching -OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch orphanet.ordo:569 semapv:UnspecifiedMatching -OMIM:609635 TCF23 skos:exactMatch hgnc:TCF23 semapv:UnspecifiedMatching +OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:18602 semapv:UnspecifiedMatching +OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:TCF23 semapv:UnspecifiedMatching OMIM:609635 TCF23 skos:exactMatch ncbigene:150921 semapv:UnspecifiedMatching -OMIM:609639 hemoglobin mu skos:exactMatch hgnc:HBM semapv:UnspecifiedMatching +OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:4826 semapv:UnspecifiedMatching +OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:HBM semapv:UnspecifiedMatching OMIM:609639 hemoglobin mu skos:exactMatch ncbigene:3042 semapv:UnspecifiedMatching -OMIM:609641 EIF3M skos:exactMatch hgnc:EIF3M semapv:UnspecifiedMatching +OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:24460 semapv:UnspecifiedMatching +OMIM:609641 EIF3M skos:exactMatch hgnc.symbol:EIF3M semapv:UnspecifiedMatching OMIM:609641 EIF3M skos:exactMatch ncbigene:10480 semapv:UnspecifiedMatching OMIM:609642 t-cell antigen receptor, gamma subunit, alternate reading frame protein skos:exactMatch ncbigene:445347 semapv:UnspecifiedMatching -OMIM:609644 FANCM skos:exactMatch hgnc:FANCM semapv:UnspecifiedMatching +OMIM:609644 FANCM skos:exactMatch hgnc.symbol:23168 semapv:UnspecifiedMatching +OMIM:609644 FANCM skos:exactMatch hgnc.symbol:FANCM semapv:UnspecifiedMatching OMIM:609644 FANCM skos:exactMatch ncbigene:57697 semapv:UnspecifiedMatching -OMIM:609645 NLRP4 skos:exactMatch hgnc:NLRP4 semapv:UnspecifiedMatching +OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:22943 semapv:UnspecifiedMatching +OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:NLRP4 semapv:UnspecifiedMatching OMIM:609645 NLRP4 skos:exactMatch ncbigene:147945 semapv:UnspecifiedMatching -OMIM:609648 NLRP12 skos:exactMatch hgnc:NLRP12 semapv:UnspecifiedMatching +OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:22938 semapv:UnspecifiedMatching +OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:NLRP12 semapv:UnspecifiedMatching OMIM:609648 NLRP12 skos:exactMatch ncbigene:91662 semapv:UnspecifiedMatching -OMIM:609650 NLRP6 skos:exactMatch hgnc:NLRP6 semapv:UnspecifiedMatching +OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:22944 semapv:UnspecifiedMatching +OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:NLRP6 semapv:UnspecifiedMatching OMIM:609650 NLRP6 skos:exactMatch ncbigene:171389 semapv:UnspecifiedMatching -OMIM:609651 GPHA2 skos:exactMatch hgnc:GPHA2 semapv:UnspecifiedMatching +OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:18054 semapv:UnspecifiedMatching +OMIM:609651 GPHA2 skos:exactMatch hgnc.symbol:GPHA2 semapv:UnspecifiedMatching OMIM:609651 GPHA2 skos:exactMatch ncbigene:170589 semapv:UnspecifiedMatching -OMIM:609652 GPHB5 skos:exactMatch hgnc:GPHB5 semapv:UnspecifiedMatching +OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:18055 semapv:UnspecifiedMatching +OMIM:609652 GPHB5 skos:exactMatch hgnc.symbol:GPHB5 semapv:UnspecifiedMatching OMIM:609652 GPHB5 skos:exactMatch ncbigene:122876 semapv:UnspecifiedMatching -OMIM:609653 NDUFAF2 skos:exactMatch hgnc:NDUFAF2 semapv:UnspecifiedMatching +OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:28086 semapv:UnspecifiedMatching +OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:NDUFAF2 semapv:UnspecifiedMatching OMIM:609653 NDUFAF2 skos:exactMatch ncbigene:91942 semapv:UnspecifiedMatching -OMIM:609658 NLRP5 skos:exactMatch hgnc:NLRP5 semapv:UnspecifiedMatching +OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:21269 semapv:UnspecifiedMatching +OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:NLRP5 semapv:UnspecifiedMatching OMIM:609658 NLRP5 skos:exactMatch ncbigene:126206 semapv:UnspecifiedMatching -OMIM:609659 NLRP8 skos:exactMatch hgnc:NLRP8 semapv:UnspecifiedMatching +OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:22940 semapv:UnspecifiedMatching +OMIM:609659 NLRP8 skos:exactMatch hgnc.symbol:NLRP8 semapv:UnspecifiedMatching OMIM:609659 NLRP8 skos:exactMatch ncbigene:126205 semapv:UnspecifiedMatching -OMIM:609660 NLRP13 skos:exactMatch hgnc:NLRP13 semapv:UnspecifiedMatching +OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:22937 semapv:UnspecifiedMatching +OMIM:609660 NLRP13 skos:exactMatch hgnc.symbol:NLRP13 semapv:UnspecifiedMatching OMIM:609660 NLRP13 skos:exactMatch ncbigene:126204 semapv:UnspecifiedMatching -OMIM:609661 NLRP7 skos:exactMatch hgnc:NLRP7 semapv:UnspecifiedMatching +OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:22947 semapv:UnspecifiedMatching +OMIM:609661 NLRP7 skos:exactMatch hgnc.symbol:NLRP7 semapv:UnspecifiedMatching OMIM:609661 NLRP7 skos:exactMatch ncbigene:199713 semapv:UnspecifiedMatching -OMIM:609662 NLRP10 skos:exactMatch hgnc:NLRP10 semapv:UnspecifiedMatching +OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:21464 semapv:UnspecifiedMatching +OMIM:609662 NLRP10 skos:exactMatch hgnc.symbol:NLRP10 semapv:UnspecifiedMatching OMIM:609662 NLRP10 skos:exactMatch ncbigene:338322 semapv:UnspecifiedMatching -OMIM:609663 NLRP9 skos:exactMatch hgnc:NLRP9 semapv:UnspecifiedMatching +OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:22941 semapv:UnspecifiedMatching +OMIM:609663 NLRP9 skos:exactMatch hgnc.symbol:NLRP9 semapv:UnspecifiedMatching OMIM:609663 NLRP9 skos:exactMatch ncbigene:338321 semapv:UnspecifiedMatching -OMIM:609664 NLRP11 skos:exactMatch hgnc:NLRP11 semapv:UnspecifiedMatching +OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:22945 semapv:UnspecifiedMatching +OMIM:609664 NLRP11 skos:exactMatch hgnc.symbol:NLRP11 semapv:UnspecifiedMatching OMIM:609664 NLRP11 skos:exactMatch ncbigene:204801 semapv:UnspecifiedMatching -OMIM:609665 NLRP14 skos:exactMatch hgnc:NLRP14 semapv:UnspecifiedMatching +OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:22939 semapv:UnspecifiedMatching +OMIM:609665 NLRP14 skos:exactMatch hgnc.symbol:NLRP14 semapv:UnspecifiedMatching OMIM:609665 NLRP14 skos:exactMatch ncbigene:338323 semapv:UnspecifiedMatching -OMIM:609666 TPCN1 skos:exactMatch hgnc:TPCN1 semapv:UnspecifiedMatching +OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:18182 semapv:UnspecifiedMatching +OMIM:609666 TPCN1 skos:exactMatch hgnc.symbol:TPCN1 semapv:UnspecifiedMatching OMIM:609666 TPCN1 skos:exactMatch ncbigene:53373 semapv:UnspecifiedMatching -OMIM:609667 TAGAP skos:exactMatch hgnc:TAGAP semapv:UnspecifiedMatching +OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:15669 semapv:UnspecifiedMatching +OMIM:609667 TAGAP skos:exactMatch hgnc.symbol:TAGAP semapv:UnspecifiedMatching OMIM:609667 TAGAP skos:exactMatch ncbigene:117289 semapv:UnspecifiedMatching OMIM:609668 PPTC7 skos:exactMatch UMLS:C1826668 semapv:UnspecifiedMatching -OMIM:609668 PPTC7 skos:exactMatch hgnc:PPTC7 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:30695 semapv:UnspecifiedMatching +OMIM:609668 PPTC7 skos:exactMatch hgnc.symbol:PPTC7 semapv:UnspecifiedMatching OMIM:609668 PPTC7 skos:exactMatch ncbigene:160760 semapv:UnspecifiedMatching -OMIM:609669 WDR36 skos:exactMatch hgnc:WDR36 semapv:UnspecifiedMatching +OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:30696 semapv:UnspecifiedMatching +OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:WDR36 semapv:UnspecifiedMatching OMIM:609669 WDR36 skos:exactMatch ncbigene:134430 semapv:UnspecifiedMatching -OMIM:609671 STEAP3 skos:exactMatch hgnc:STEAP3 semapv:UnspecifiedMatching +OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:24592 semapv:UnspecifiedMatching +OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:STEAP3 semapv:UnspecifiedMatching OMIM:609671 STEAP3 skos:exactMatch ncbigene:55240 semapv:UnspecifiedMatching -OMIM:609672 EXOC6 skos:exactMatch hgnc:EXOC6 semapv:UnspecifiedMatching +OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:23196 semapv:UnspecifiedMatching +OMIM:609672 EXOC6 skos:exactMatch hgnc.symbol:EXOC6 semapv:UnspecifiedMatching OMIM:609672 EXOC6 skos:exactMatch ncbigene:54536 semapv:UnspecifiedMatching -OMIM:609673 PDGFD skos:exactMatch hgnc:PDGFD semapv:UnspecifiedMatching +OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:30620 semapv:UnspecifiedMatching +OMIM:609673 PDGFD skos:exactMatch hgnc.symbol:PDGFD semapv:UnspecifiedMatching OMIM:609673 PDGFD skos:exactMatch ncbigene:80310 semapv:UnspecifiedMatching -OMIM:609674 ESCO1 skos:exactMatch hgnc:ESCO1 semapv:UnspecifiedMatching +OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:24645 semapv:UnspecifiedMatching +OMIM:609674 ESCO1 skos:exactMatch hgnc.symbol:ESCO1 semapv:UnspecifiedMatching OMIM:609674 ESCO1 skos:exactMatch ncbigene:114799 semapv:UnspecifiedMatching OMIM:609675 SOSTDC1 skos:exactMatch UMLS:C1427738 semapv:UnspecifiedMatching -OMIM:609675 SOSTDC1 skos:exactMatch hgnc:SOSTDC1 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:21748 semapv:UnspecifiedMatching +OMIM:609675 SOSTDC1 skos:exactMatch hgnc.symbol:SOSTDC1 semapv:UnspecifiedMatching OMIM:609675 SOSTDC1 skos:exactMatch ncbigene:25928 semapv:UnspecifiedMatching -OMIM:609676 MAVS skos:exactMatch hgnc:MAVS semapv:UnspecifiedMatching +OMIM:609676 MAVS skos:exactMatch hgnc.symbol:29233 semapv:UnspecifiedMatching +OMIM:609676 MAVS skos:exactMatch hgnc.symbol:MAVS semapv:UnspecifiedMatching OMIM:609676 MAVS skos:exactMatch ncbigene:57506 semapv:UnspecifiedMatching -OMIM:609677 OS9 skos:exactMatch hgnc:OS9 semapv:UnspecifiedMatching +OMIM:609677 OS9 skos:exactMatch hgnc.symbol:16994 semapv:UnspecifiedMatching +OMIM:609677 OS9 skos:exactMatch hgnc.symbol:OS9 semapv:UnspecifiedMatching OMIM:609677 OS9 skos:exactMatch ncbigene:10956 semapv:UnspecifiedMatching -OMIM:609678 SLITRK1 skos:exactMatch hgnc:SLITRK1 semapv:UnspecifiedMatching +OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:20297 semapv:UnspecifiedMatching +OMIM:609678 SLITRK1 skos:exactMatch hgnc.symbol:SLITRK1 semapv:UnspecifiedMatching OMIM:609678 SLITRK1 skos:exactMatch ncbigene:114798 semapv:UnspecifiedMatching -OMIM:609679 SLITRK3 skos:exactMatch hgnc:SLITRK3 semapv:UnspecifiedMatching +OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:23501 semapv:UnspecifiedMatching +OMIM:609679 SLITRK3 skos:exactMatch hgnc.symbol:SLITRK3 semapv:UnspecifiedMatching OMIM:609679 SLITRK3 skos:exactMatch ncbigene:22865 semapv:UnspecifiedMatching -OMIM:609680 SLITRK5 skos:exactMatch hgnc:SLITRK5 semapv:UnspecifiedMatching +OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:20295 semapv:UnspecifiedMatching +OMIM:609680 SLITRK5 skos:exactMatch hgnc.symbol:SLITRK5 semapv:UnspecifiedMatching OMIM:609680 SLITRK5 skos:exactMatch ncbigene:26050 semapv:UnspecifiedMatching -OMIM:609681 SLITRK6 skos:exactMatch hgnc:SLITRK6 semapv:UnspecifiedMatching +OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:23503 semapv:UnspecifiedMatching +OMIM:609681 SLITRK6 skos:exactMatch hgnc.symbol:SLITRK6 semapv:UnspecifiedMatching OMIM:609681 SLITRK6 skos:exactMatch ncbigene:84189 semapv:UnspecifiedMatching -OMIM:609682 DCLRE1A skos:exactMatch hgnc:DCLRE1A semapv:UnspecifiedMatching +OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:17660 semapv:UnspecifiedMatching +OMIM:609682 DCLRE1A skos:exactMatch hgnc.symbol:DCLRE1A semapv:UnspecifiedMatching OMIM:609682 DCLRE1A skos:exactMatch ncbigene:9937 semapv:UnspecifiedMatching -OMIM:609683 DCLRE1B skos:exactMatch hgnc:DCLRE1B semapv:UnspecifiedMatching +OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:17641 semapv:UnspecifiedMatching +OMIM:609683 DCLRE1B skos:exactMatch hgnc.symbol:DCLRE1B semapv:UnspecifiedMatching OMIM:609683 DCLRE1B skos:exactMatch ncbigene:64858 semapv:UnspecifiedMatching -OMIM:609684 MAL2 skos:exactMatch hgnc:MAL2 semapv:UnspecifiedMatching +OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:13634 semapv:UnspecifiedMatching +OMIM:609684 MAL2 skos:exactMatch hgnc.symbol:MAL2 semapv:UnspecifiedMatching OMIM:609684 MAL2 skos:exactMatch ncbigene:114569 semapv:UnspecifiedMatching -OMIM:609685 CDCA7L skos:exactMatch hgnc:CDCA7L semapv:UnspecifiedMatching +OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:30777 semapv:UnspecifiedMatching +OMIM:609685 CDCA7L skos:exactMatch hgnc.symbol:CDCA7L semapv:UnspecifiedMatching OMIM:609685 CDCA7L skos:exactMatch ncbigene:55536 semapv:UnspecifiedMatching -OMIM:609686 CLYBL skos:exactMatch hgnc:CLYBL semapv:UnspecifiedMatching +OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:18355 semapv:UnspecifiedMatching +OMIM:609686 CLYBL skos:exactMatch hgnc.symbol:CLYBL semapv:UnspecifiedMatching OMIM:609686 CLYBL skos:exactMatch ncbigene:171425 semapv:UnspecifiedMatching -OMIM:609687 MIR196A2 skos:exactMatch hgnc:MIR196A2 semapv:UnspecifiedMatching +OMIM:609687 MIR196A2 skos:exactMatch hgnc.symbol:31568 semapv:UnspecifiedMatching +OMIM:609687 MIR196A2 skos:exactMatch hgnc.symbol:MIR196A2 semapv:UnspecifiedMatching OMIM:609687 MIR196A2 skos:exactMatch ncbigene:406973 semapv:UnspecifiedMatching -OMIM:609688 MIR196B skos:exactMatch hgnc:MIR196B semapv:UnspecifiedMatching +OMIM:609688 MIR196B skos:exactMatch hgnc.symbol:31790 semapv:UnspecifiedMatching +OMIM:609688 MIR196B skos:exactMatch hgnc.symbol:MIR196B semapv:UnspecifiedMatching OMIM:609688 MIR196B skos:exactMatch ncbigene:442920 semapv:UnspecifiedMatching -OMIM:609689 CEP250 skos:exactMatch hgnc:CEP250 semapv:UnspecifiedMatching +OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:1859 semapv:UnspecifiedMatching +OMIM:609689 CEP250 skos:exactMatch hgnc.symbol:CEP250 semapv:UnspecifiedMatching OMIM:609689 CEP250 skos:exactMatch ncbigene:11190 semapv:UnspecifiedMatching OMIM:609690 FARSB skos:exactMatch UMLS:C1425085 semapv:UnspecifiedMatching OMIM:609690 FARSB skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching -OMIM:609690 FARSB skos:exactMatch hgnc:FARSB semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch hgnc.symbol:17800 semapv:UnspecifiedMatching +OMIM:609690 FARSB skos:exactMatch hgnc.symbol:FARSB semapv:UnspecifiedMatching OMIM:609690 FARSB skos:exactMatch ncbigene:10056 semapv:UnspecifiedMatching -OMIM:609691 FHOD3 skos:exactMatch hgnc:FHOD3 semapv:UnspecifiedMatching +OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:26178 semapv:UnspecifiedMatching +OMIM:609691 FHOD3 skos:exactMatch hgnc.symbol:FHOD3 semapv:UnspecifiedMatching OMIM:609691 FHOD3 skos:exactMatch ncbigene:80206 semapv:UnspecifiedMatching -OMIM:609692 WIPF2 skos:exactMatch hgnc:WIPF2 semapv:UnspecifiedMatching +OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:30923 semapv:UnspecifiedMatching +OMIM:609692 WIPF2 skos:exactMatch hgnc.symbol:WIPF2 semapv:UnspecifiedMatching OMIM:609692 WIPF2 skos:exactMatch ncbigene:147179 semapv:UnspecifiedMatching -OMIM:609693 VWA7 skos:exactMatch hgnc:VWA7 semapv:UnspecifiedMatching +OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:13939 semapv:UnspecifiedMatching +OMIM:609693 VWA7 skos:exactMatch hgnc.symbol:VWA7 semapv:UnspecifiedMatching OMIM:609693 VWA7 skos:exactMatch ncbigene:80737 semapv:UnspecifiedMatching -OMIM:609694 GMIP skos:exactMatch hgnc:GMIP semapv:UnspecifiedMatching +OMIM:609694 GMIP skos:exactMatch hgnc.symbol:24852 semapv:UnspecifiedMatching +OMIM:609694 GMIP skos:exactMatch hgnc.symbol:GMIP semapv:UnspecifiedMatching OMIM:609694 GMIP skos:exactMatch ncbigene:51291 semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch UMLS:C0268623 semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch UMLS:C1415696 semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching -OMIM:609695 HPD skos:exactMatch hgnc:HPD semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch hgnc.symbol:5147 semapv:UnspecifiedMatching +OMIM:609695 HPD skos:exactMatch hgnc.symbol:HPD semapv:UnspecifiedMatching OMIM:609695 HPD skos:exactMatch ncbigene:3242 semapv:UnspecifiedMatching -OMIM:609696 ARID4B skos:exactMatch hgnc:ARID4B semapv:UnspecifiedMatching +OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:15550 semapv:UnspecifiedMatching +OMIM:609696 ARID4B skos:exactMatch hgnc.symbol:ARID4B semapv:UnspecifiedMatching OMIM:609696 ARID4B skos:exactMatch ncbigene:51742 semapv:UnspecifiedMatching -OMIM:609697 SAP130 skos:exactMatch hgnc:SAP130 semapv:UnspecifiedMatching +OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:29813 semapv:UnspecifiedMatching +OMIM:609697 SAP130 skos:exactMatch hgnc.symbol:SAP130 semapv:UnspecifiedMatching OMIM:609697 SAP130 skos:exactMatch ncbigene:79595 semapv:UnspecifiedMatching +OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch Orphanet:171706 semapv:UnspecifiedMatching OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch UMLS:C1864761 semapv:UnspecifiedMatching -OMIM:609698 thyroid hormone metabolism, abnormal, 1 skos:exactMatch orphanet.ordo:171706 semapv:UnspecifiedMatching -OMIM:609699 MGLL skos:exactMatch hgnc:MGLL semapv:UnspecifiedMatching +OMIM:609699 MGLL skos:exactMatch hgnc.symbol:17038 semapv:UnspecifiedMatching +OMIM:609699 MGLL skos:exactMatch hgnc.symbol:MGLL semapv:UnspecifiedMatching OMIM:609699 MGLL skos:exactMatch ncbigene:11343 semapv:UnspecifiedMatching -OMIM:609700 RABGEF1 skos:exactMatch hgnc:RABGEF1 semapv:UnspecifiedMatching +OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:17676 semapv:UnspecifiedMatching +OMIM:609700 RABGEF1 skos:exactMatch hgnc.symbol:RABGEF1 semapv:UnspecifiedMatching OMIM:609700 RABGEF1 skos:exactMatch ncbigene:27342 semapv:UnspecifiedMatching -OMIM:609701 NAGLU skos:exactMatch hgnc:NAGLU semapv:UnspecifiedMatching +OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:7632 semapv:UnspecifiedMatching +OMIM:609701 NAGLU skos:exactMatch hgnc.symbol:NAGLU semapv:UnspecifiedMatching OMIM:609701 NAGLU skos:exactMatch ncbigene:4669 semapv:UnspecifiedMatching -OMIM:609702 PSMG2 skos:exactMatch hgnc:PSMG2 semapv:UnspecifiedMatching +OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:24929 semapv:UnspecifiedMatching +OMIM:609702 PSMG2 skos:exactMatch hgnc.symbol:PSMG2 semapv:UnspecifiedMatching OMIM:609702 PSMG2 skos:exactMatch ncbigene:56984 semapv:UnspecifiedMatching OMIM:609703 MIR15A skos:exactMatch UMLS:C1537709 semapv:UnspecifiedMatching -OMIM:609703 MIR15A skos:exactMatch hgnc:MIR15A semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:31543 semapv:UnspecifiedMatching +OMIM:609703 MIR15A skos:exactMatch hgnc.symbol:MIR15A semapv:UnspecifiedMatching OMIM:609703 MIR15A skos:exactMatch ncbigene:406948 semapv:UnspecifiedMatching OMIM:609704 MIR16-1 skos:exactMatch UMLS:C1537711 semapv:UnspecifiedMatching -OMIM:609704 MIR16-1 skos:exactMatch hgnc:MIR16-1 semapv:UnspecifiedMatching +OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:31545 semapv:UnspecifiedMatching +OMIM:609704 MIR16-1 skos:exactMatch hgnc.symbol:MIR16-1 semapv:UnspecifiedMatching OMIM:609704 MIR16-1 skos:exactMatch ncbigene:406950 semapv:UnspecifiedMatching -OMIM:609705 MIR24-1 skos:exactMatch hgnc:MIR24-1 semapv:UnspecifiedMatching +OMIM:609705 MIR24-1 skos:exactMatch hgnc.symbol:31607 semapv:UnspecifiedMatching +OMIM:609705 MIR24-1 skos:exactMatch hgnc.symbol:MIR24-1 semapv:UnspecifiedMatching OMIM:609705 MIR24-1 skos:exactMatch ncbigene:407012 semapv:UnspecifiedMatching -OMIM:609707 DUS2L skos:exactMatch hgnc:DUS2 semapv:UnspecifiedMatching +OMIM:609707 DUS2L skos:exactMatch hgnc.symbol:26014 semapv:UnspecifiedMatching +OMIM:609707 DUS2L skos:exactMatch hgnc.symbol:DUS2 semapv:UnspecifiedMatching OMIM:609707 DUS2L skos:exactMatch ncbigene:54920 semapv:UnspecifiedMatching -OMIM:609708 LPL skos:exactMatch hgnc:LPL semapv:UnspecifiedMatching +OMIM:609708 LPL skos:exactMatch hgnc.symbol:6677 semapv:UnspecifiedMatching +OMIM:609708 LPL skos:exactMatch hgnc.symbol:LPL semapv:UnspecifiedMatching OMIM:609708 LPL skos:exactMatch ncbigene:4023 semapv:UnspecifiedMatching -OMIM:609709 GYLTL1B skos:exactMatch hgnc:LARGE2 semapv:UnspecifiedMatching +OMIM:609709 GYLTL1B skos:exactMatch hgnc.symbol:16522 semapv:UnspecifiedMatching +OMIM:609709 GYLTL1B skos:exactMatch hgnc.symbol:LARGE2 semapv:UnspecifiedMatching OMIM:609709 GYLTL1B skos:exactMatch ncbigene:120071 semapv:UnspecifiedMatching -OMIM:609710 DCANP1 skos:exactMatch hgnc:DCANP1 semapv:UnspecifiedMatching +OMIM:609710 DCANP1 skos:exactMatch hgnc.symbol:24459 semapv:UnspecifiedMatching +OMIM:609710 DCANP1 skos:exactMatch hgnc.symbol:DCANP1 semapv:UnspecifiedMatching OMIM:609710 DCANP1 skos:exactMatch ncbigene:140947 semapv:UnspecifiedMatching -OMIM:609711 UQCR11 skos:exactMatch hgnc:UQCR11 semapv:UnspecifiedMatching +OMIM:609711 UQCR11 skos:exactMatch hgnc.symbol:30862 semapv:UnspecifiedMatching +OMIM:609711 UQCR11 skos:exactMatch hgnc.symbol:UQCR11 semapv:UnspecifiedMatching OMIM:609711 UQCR11 skos:exactMatch ncbigene:10975 semapv:UnspecifiedMatching -OMIM:609712 PKLR skos:exactMatch hgnc:PKLR semapv:UnspecifiedMatching +OMIM:609712 PKLR skos:exactMatch hgnc.symbol:9020 semapv:UnspecifiedMatching +OMIM:609712 PKLR skos:exactMatch hgnc.symbol:PKLR semapv:UnspecifiedMatching OMIM:609712 PKLR skos:exactMatch ncbigene:5313 semapv:UnspecifiedMatching -OMIM:609713 HUS1B skos:exactMatch hgnc:HUS1B semapv:UnspecifiedMatching +OMIM:609713 HUS1B skos:exactMatch hgnc.symbol:16485 semapv:UnspecifiedMatching +OMIM:609713 HUS1B skos:exactMatch hgnc.symbol:HUS1B semapv:UnspecifiedMatching OMIM:609713 HUS1B skos:exactMatch ncbigene:135458 semapv:UnspecifiedMatching -OMIM:609714 TREML1 skos:exactMatch hgnc:TREML1 semapv:UnspecifiedMatching +OMIM:609714 TREML1 skos:exactMatch hgnc.symbol:20434 semapv:UnspecifiedMatching +OMIM:609714 TREML1 skos:exactMatch hgnc.symbol:TREML1 semapv:UnspecifiedMatching OMIM:609714 TREML1 skos:exactMatch ncbigene:340205 semapv:UnspecifiedMatching -OMIM:609715 TREML2 skos:exactMatch hgnc:TREML2 semapv:UnspecifiedMatching +OMIM:609715 TREML2 skos:exactMatch hgnc.symbol:21092 semapv:UnspecifiedMatching +OMIM:609715 TREML2 skos:exactMatch hgnc.symbol:TREML2 semapv:UnspecifiedMatching OMIM:609715 TREML2 skos:exactMatch ncbigene:79865 semapv:UnspecifiedMatching -OMIM:609716 TREML3 skos:exactMatch hgnc:TREML3P semapv:UnspecifiedMatching +OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:30806 semapv:UnspecifiedMatching +OMIM:609716 TREML3 skos:exactMatch hgnc.symbol:TREML3P semapv:UnspecifiedMatching OMIM:609716 TREML3 skos:exactMatch ncbigene:340206 semapv:UnspecifiedMatching -OMIM:609717 PCAT4 skos:exactMatch hgnc:PCAT4 semapv:UnspecifiedMatching +OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:24853 semapv:UnspecifiedMatching +OMIM:609717 PCAT4 skos:exactMatch hgnc.symbol:PCAT4 semapv:UnspecifiedMatching OMIM:609717 PCAT4 skos:exactMatch ncbigene:118425 semapv:UnspecifiedMatching -OMIM:609718 LHFPL2 skos:exactMatch hgnc:LHFPL2 semapv:UnspecifiedMatching +OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:6588 semapv:UnspecifiedMatching +OMIM:609718 LHFPL2 skos:exactMatch hgnc.symbol:LHFPL2 semapv:UnspecifiedMatching OMIM:609718 LHFPL2 skos:exactMatch ncbigene:10184 semapv:UnspecifiedMatching -OMIM:609719 LHFPL3 skos:exactMatch hgnc:LHFPL3 semapv:UnspecifiedMatching +OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:6589 semapv:UnspecifiedMatching +OMIM:609719 LHFPL3 skos:exactMatch hgnc.symbol:LHFPL3 semapv:UnspecifiedMatching OMIM:609719 LHFPL3 skos:exactMatch ncbigene:375612 semapv:UnspecifiedMatching -OMIM:609720 CRB2 skos:exactMatch hgnc:CRB2 semapv:UnspecifiedMatching +OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:18688 semapv:UnspecifiedMatching +OMIM:609720 CRB2 skos:exactMatch hgnc.symbol:CRB2 semapv:UnspecifiedMatching OMIM:609720 CRB2 skos:exactMatch ncbigene:286204 semapv:UnspecifiedMatching -OMIM:609721 PKD1L1 skos:exactMatch hgnc:PKD1L1 semapv:UnspecifiedMatching +OMIM:609721 PKD1L1 skos:exactMatch hgnc.symbol:18053 semapv:UnspecifiedMatching +OMIM:609721 PKD1L1 skos:exactMatch hgnc.symbol:PKD1L1 semapv:UnspecifiedMatching OMIM:609721 PKD1L1 skos:exactMatch ncbigene:168507 semapv:UnspecifiedMatching -OMIM:609722 PDLIM2 skos:exactMatch hgnc:PDLIM2 semapv:UnspecifiedMatching +OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:13992 semapv:UnspecifiedMatching +OMIM:609722 PDLIM2 skos:exactMatch hgnc.symbol:PDLIM2 semapv:UnspecifiedMatching OMIM:609722 PDLIM2 skos:exactMatch ncbigene:64236 semapv:UnspecifiedMatching -OMIM:609723 YPEL2 skos:exactMatch hgnc:YPEL2 semapv:UnspecifiedMatching +OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:18326 semapv:UnspecifiedMatching +OMIM:609723 YPEL2 skos:exactMatch hgnc.symbol:YPEL2 semapv:UnspecifiedMatching OMIM:609723 YPEL2 skos:exactMatch ncbigene:388403 semapv:UnspecifiedMatching -OMIM:609724 YPEL3 skos:exactMatch hgnc:YPEL3 semapv:UnspecifiedMatching +OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:18327 semapv:UnspecifiedMatching +OMIM:609724 YPEL3 skos:exactMatch hgnc.symbol:YPEL3 semapv:UnspecifiedMatching OMIM:609724 YPEL3 skos:exactMatch ncbigene:83719 semapv:UnspecifiedMatching -OMIM:609725 YPEL4 skos:exactMatch hgnc:YPEL4 semapv:UnspecifiedMatching +OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:18328 semapv:UnspecifiedMatching +OMIM:609725 YPEL4 skos:exactMatch hgnc.symbol:YPEL4 semapv:UnspecifiedMatching OMIM:609725 YPEL4 skos:exactMatch ncbigene:219539 semapv:UnspecifiedMatching -OMIM:609726 YPEL5 skos:exactMatch hgnc:YPEL5 semapv:UnspecifiedMatching +OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:18329 semapv:UnspecifiedMatching +OMIM:609726 YPEL5 skos:exactMatch hgnc.symbol:YPEL5 semapv:UnspecifiedMatching OMIM:609726 YPEL5 skos:exactMatch ncbigene:51646 semapv:UnspecifiedMatching +OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching -OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch orphanet.ordo:101009 semapv:UnspecifiedMatching -OMIM:609728 MARS2 skos:exactMatch hgnc:MARS2 semapv:UnspecifiedMatching +OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:25133 semapv:UnspecifiedMatching +OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:MARS2 semapv:UnspecifiedMatching OMIM:609728 MARS2 skos:exactMatch ncbigene:92935 semapv:UnspecifiedMatching -OMIM:609729 PDZRN3 skos:exactMatch hgnc:PDZRN3 semapv:UnspecifiedMatching +OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:17704 semapv:UnspecifiedMatching +OMIM:609729 PDZRN3 skos:exactMatch hgnc.symbol:PDZRN3 semapv:UnspecifiedMatching OMIM:609729 PDZRN3 skos:exactMatch ncbigene:23024 semapv:UnspecifiedMatching -OMIM:609730 PDZRN4 skos:exactMatch hgnc:PDZRN4 semapv:UnspecifiedMatching +OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:30552 semapv:UnspecifiedMatching +OMIM:609730 PDZRN4 skos:exactMatch hgnc.symbol:PDZRN4 semapv:UnspecifiedMatching OMIM:609730 PDZRN4 skos:exactMatch ncbigene:29951 semapv:UnspecifiedMatching -OMIM:609731 CST11 skos:exactMatch hgnc:CST11 semapv:UnspecifiedMatching +OMIM:609731 CST11 skos:exactMatch hgnc.symbol:15959 semapv:UnspecifiedMatching +OMIM:609731 CST11 skos:exactMatch hgnc.symbol:CST11 semapv:UnspecifiedMatching OMIM:609731 CST11 skos:exactMatch ncbigene:140880 semapv:UnspecifiedMatching -OMIM:609732 LNX1 skos:exactMatch hgnc:LNX1 semapv:UnspecifiedMatching +OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:6657 semapv:UnspecifiedMatching +OMIM:609732 LNX1 skos:exactMatch hgnc.symbol:LNX1 semapv:UnspecifiedMatching OMIM:609732 LNX1 skos:exactMatch ncbigene:84708 semapv:UnspecifiedMatching -OMIM:609733 LNX2 skos:exactMatch hgnc:LNX2 semapv:UnspecifiedMatching +OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:20421 semapv:UnspecifiedMatching +OMIM:609733 LNX2 skos:exactMatch hgnc.symbol:LNX2 semapv:UnspecifiedMatching OMIM:609733 LNX2 skos:exactMatch ncbigene:222484 semapv:UnspecifiedMatching -OMIM:609735 RFFL skos:exactMatch hgnc:RFFL semapv:UnspecifiedMatching +OMIM:609735 RFFL skos:exactMatch hgnc.symbol:24821 semapv:UnspecifiedMatching +OMIM:609735 RFFL skos:exactMatch hgnc.symbol:RFFL semapv:UnspecifiedMatching OMIM:609735 RFFL skos:exactMatch ncbigene:117584 semapv:UnspecifiedMatching -OMIM:609736 CCDC88A skos:exactMatch hgnc:CCDC88A semapv:UnspecifiedMatching +OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:25523 semapv:UnspecifiedMatching +OMIM:609736 CCDC88A skos:exactMatch hgnc.symbol:CCDC88A semapv:UnspecifiedMatching OMIM:609736 CCDC88A skos:exactMatch ncbigene:55704 semapv:UnspecifiedMatching OMIM:609737 CRB3 skos:exactMatch UMLS:C1426800 semapv:UnspecifiedMatching -OMIM:609737 CRB3 skos:exactMatch hgnc:CRB3 semapv:UnspecifiedMatching +OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:20237 semapv:UnspecifiedMatching +OMIM:609737 CRB3 skos:exactMatch hgnc.symbol:CRB3 semapv:UnspecifiedMatching OMIM:609737 CRB3 skos:exactMatch ncbigene:92359 semapv:UnspecifiedMatching -OMIM:609738 IGSF9 skos:exactMatch hgnc:IGSF9 semapv:UnspecifiedMatching +OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:18132 semapv:UnspecifiedMatching +OMIM:609738 IGSF9 skos:exactMatch hgnc.symbol:IGSF9 semapv:UnspecifiedMatching OMIM:609738 IGSF9 skos:exactMatch ncbigene:57549 semapv:UnspecifiedMatching -OMIM:609739 ILDR1 skos:exactMatch hgnc:ILDR1 semapv:UnspecifiedMatching +OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:28741 semapv:UnspecifiedMatching +OMIM:609739 ILDR1 skos:exactMatch hgnc.symbol:ILDR1 semapv:UnspecifiedMatching OMIM:609739 ILDR1 skos:exactMatch ncbigene:286676 semapv:UnspecifiedMatching -OMIM:609740 PHF19 skos:exactMatch hgnc:PHF19 semapv:UnspecifiedMatching +OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:24566 semapv:UnspecifiedMatching +OMIM:609740 PHF19 skos:exactMatch hgnc.symbol:PHF19 semapv:UnspecifiedMatching OMIM:609740 PHF19 skos:exactMatch ncbigene:26147 semapv:UnspecifiedMatching -OMIM:609742 IL4I1 skos:exactMatch hgnc:IL4I1 semapv:UnspecifiedMatching +OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:19094 semapv:UnspecifiedMatching +OMIM:609742 IL4I1 skos:exactMatch hgnc.symbol:IL4I1 semapv:UnspecifiedMatching OMIM:609742 IL4I1 skos:exactMatch ncbigene:259307 semapv:UnspecifiedMatching -OMIM:609743 CADM3 skos:exactMatch hgnc:CADM3 semapv:UnspecifiedMatching +OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:17601 semapv:UnspecifiedMatching +OMIM:609743 CADM3 skos:exactMatch hgnc.symbol:CADM3 semapv:UnspecifiedMatching OMIM:609743 CADM3 skos:exactMatch ncbigene:57863 semapv:UnspecifiedMatching -OMIM:609744 CADM4 skos:exactMatch hgnc:CADM4 semapv:UnspecifiedMatching +OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:30825 semapv:UnspecifiedMatching +OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:CADM4 semapv:UnspecifiedMatching OMIM:609744 CADM4 skos:exactMatch ncbigene:199731 semapv:UnspecifiedMatching -OMIM:609746 ARHGAP10 skos:exactMatch hgnc:ARHGAP10 semapv:UnspecifiedMatching +OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:26099 semapv:UnspecifiedMatching +OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:ARHGAP10 semapv:UnspecifiedMatching OMIM:609746 ARHGAP10 skos:exactMatch ncbigene:79658 semapv:UnspecifiedMatching -OMIM:609747 ABRA skos:exactMatch hgnc:ABRA semapv:UnspecifiedMatching +OMIM:609747 ABRA skos:exactMatch hgnc.symbol:30655 semapv:UnspecifiedMatching +OMIM:609747 ABRA skos:exactMatch hgnc.symbol:ABRA semapv:UnspecifiedMatching OMIM:609747 ABRA skos:exactMatch ncbigene:137735 semapv:UnspecifiedMatching -OMIM:609748 UBL7 skos:exactMatch hgnc:UBL7 semapv:UnspecifiedMatching +OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:28221 semapv:UnspecifiedMatching +OMIM:609748 UBL7 skos:exactMatch hgnc.symbol:UBL7 semapv:UnspecifiedMatching OMIM:609748 UBL7 skos:exactMatch ncbigene:84993 semapv:UnspecifiedMatching -OMIM:609749 UXS1 skos:exactMatch hgnc:UXS1 semapv:UnspecifiedMatching +OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:17729 semapv:UnspecifiedMatching +OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:UXS1 semapv:UnspecifiedMatching OMIM:609749 UXS1 skos:exactMatch ncbigene:80146 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C1412128 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching -OMIM:609751 ACOX1 skos:exactMatch hgnc:ACOX1 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:119 semapv:UnspecifiedMatching +OMIM:609751 ACOX1 skos:exactMatch hgnc.symbol:ACOX1 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch ncbigene:51 semapv:UnspecifiedMatching -OMIM:609752 NCOA7 skos:exactMatch hgnc:NCOA7 semapv:UnspecifiedMatching +OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:21081 semapv:UnspecifiedMatching +OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:NCOA7 semapv:UnspecifiedMatching OMIM:609752 NCOA7 skos:exactMatch ncbigene:135112 semapv:UnspecifiedMatching -OMIM:609756 CHRFAM7A skos:exactMatch hgnc:CHRFAM7A semapv:UnspecifiedMatching +OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:15781 semapv:UnspecifiedMatching +OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:CHRFAM7A semapv:UnspecifiedMatching OMIM:609756 CHRFAM7A skos:exactMatch ncbigene:89832 semapv:UnspecifiedMatching +OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch Orphanet:96121 semapv:UnspecifiedMatching OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch UMLS:C1857844 semapv:UnspecifiedMatching -OMIM:609757 williams-beuren region duplication syndrome skos:exactMatch orphanet.ordo:96121 semapv:UnspecifiedMatching -OMIM:609758 NKAIN2 skos:exactMatch hgnc:NKAIN2 semapv:UnspecifiedMatching +OMIM:609758 NKAIN2 skos:exactMatch hgnc.symbol:16443 semapv:UnspecifiedMatching +OMIM:609758 NKAIN2 skos:exactMatch hgnc.symbol:NKAIN2 semapv:UnspecifiedMatching OMIM:609758 NKAIN2 skos:exactMatch ncbigene:154215 semapv:UnspecifiedMatching -OMIM:609759 PRDM7 skos:exactMatch hgnc:PRDM7 semapv:UnspecifiedMatching +OMIM:609759 PRDM7 skos:exactMatch hgnc.symbol:9351 semapv:UnspecifiedMatching +OMIM:609759 PRDM7 skos:exactMatch hgnc.symbol:PRDM7 semapv:UnspecifiedMatching OMIM:609759 PRDM7 skos:exactMatch ncbigene:11105 semapv:UnspecifiedMatching -OMIM:609760 PRDM9 skos:exactMatch hgnc:PRDM9 semapv:UnspecifiedMatching +OMIM:609760 PRDM9 skos:exactMatch hgnc.symbol:13994 semapv:UnspecifiedMatching +OMIM:609760 PRDM9 skos:exactMatch hgnc.symbol:PRDM9 semapv:UnspecifiedMatching OMIM:609760 PRDM9 skos:exactMatch ncbigene:56979 semapv:UnspecifiedMatching -OMIM:609761 TRIOBP skos:exactMatch hgnc:TRIOBP semapv:UnspecifiedMatching +OMIM:609761 TRIOBP skos:exactMatch hgnc.symbol:17009 semapv:UnspecifiedMatching +OMIM:609761 TRIOBP skos:exactMatch hgnc.symbol:TRIOBP semapv:UnspecifiedMatching OMIM:609761 TRIOBP skos:exactMatch ncbigene:11078 semapv:UnspecifiedMatching -OMIM:609762 BLOC1S3 skos:exactMatch hgnc:BLOC1S3 semapv:UnspecifiedMatching +OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:20914 semapv:UnspecifiedMatching +OMIM:609762 BLOC1S3 skos:exactMatch hgnc.symbol:BLOC1S3 semapv:UnspecifiedMatching OMIM:609762 BLOC1S3 skos:exactMatch ncbigene:388552 semapv:UnspecifiedMatching -OMIM:609763 PI4K2A skos:exactMatch hgnc:PI4K2A semapv:UnspecifiedMatching +OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:30031 semapv:UnspecifiedMatching +OMIM:609763 PI4K2A skos:exactMatch hgnc.symbol:PI4K2A semapv:UnspecifiedMatching OMIM:609763 PI4K2A skos:exactMatch ncbigene:55361 semapv:UnspecifiedMatching -OMIM:609764 KDM4A skos:exactMatch hgnc:KDM4A semapv:UnspecifiedMatching +OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:22978 semapv:UnspecifiedMatching +OMIM:609764 KDM4A skos:exactMatch hgnc.symbol:KDM4A semapv:UnspecifiedMatching OMIM:609764 KDM4A skos:exactMatch ncbigene:9682 semapv:UnspecifiedMatching OMIM:609765 KDM4B skos:exactMatch UMLS:C1428797 semapv:UnspecifiedMatching -OMIM:609765 KDM4B skos:exactMatch hgnc:KDM4B semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:29136 semapv:UnspecifiedMatching +OMIM:609765 KDM4B skos:exactMatch hgnc.symbol:KDM4B semapv:UnspecifiedMatching OMIM:609765 KDM4B skos:exactMatch ncbigene:23030 semapv:UnspecifiedMatching -OMIM:609766 KDM4D skos:exactMatch hgnc:KDM4D semapv:UnspecifiedMatching +OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:25498 semapv:UnspecifiedMatching +OMIM:609766 KDM4D skos:exactMatch hgnc.symbol:KDM4D semapv:UnspecifiedMatching OMIM:609766 KDM4D skos:exactMatch ncbigene:55693 semapv:UnspecifiedMatching -OMIM:609767 SLC25A28 skos:exactMatch hgnc:SLC25A28 semapv:UnspecifiedMatching +OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:23472 semapv:UnspecifiedMatching +OMIM:609767 SLC25A28 skos:exactMatch hgnc.symbol:SLC25A28 semapv:UnspecifiedMatching OMIM:609767 SLC25A28 skos:exactMatch ncbigene:81894 semapv:UnspecifiedMatching -OMIM:609768 BLOC1S2 skos:exactMatch hgnc:BLOC1S2 semapv:UnspecifiedMatching +OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:20984 semapv:UnspecifiedMatching +OMIM:609768 BLOC1S2 skos:exactMatch hgnc.symbol:BLOC1S2 semapv:UnspecifiedMatching OMIM:609768 BLOC1S2 skos:exactMatch ncbigene:282991 semapv:UnspecifiedMatching -OMIM:609769 SDR9C7 skos:exactMatch hgnc:SDR9C7 semapv:UnspecifiedMatching +OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:29958 semapv:UnspecifiedMatching +OMIM:609769 SDR9C7 skos:exactMatch hgnc.symbol:SDR9C7 semapv:UnspecifiedMatching OMIM:609769 SDR9C7 skos:exactMatch ncbigene:121214 semapv:UnspecifiedMatching -OMIM:609770 JAML skos:exactMatch hgnc:JAML semapv:UnspecifiedMatching +OMIM:609770 JAML skos:exactMatch hgnc.symbol:19084 semapv:UnspecifiedMatching +OMIM:609770 JAML skos:exactMatch hgnc.symbol:JAML semapv:UnspecifiedMatching OMIM:609770 JAML skos:exactMatch ncbigene:120425 semapv:UnspecifiedMatching -OMIM:609771 UBN1 skos:exactMatch hgnc:UBN1 semapv:UnspecifiedMatching +OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:12506 semapv:UnspecifiedMatching +OMIM:609771 UBN1 skos:exactMatch hgnc.symbol:UBN1 semapv:UnspecifiedMatching OMIM:609771 UBN1 skos:exactMatch ncbigene:29855 semapv:UnspecifiedMatching -OMIM:609772 CTTNBP2 skos:exactMatch hgnc:CTTNBP2 semapv:UnspecifiedMatching +OMIM:609772 CTTNBP2 skos:exactMatch hgnc.symbol:15679 semapv:UnspecifiedMatching +OMIM:609772 CTTNBP2 skos:exactMatch hgnc.symbol:CTTNBP2 semapv:UnspecifiedMatching OMIM:609772 CTTNBP2 skos:exactMatch ncbigene:83992 semapv:UnspecifiedMatching -OMIM:609773 EID2 skos:exactMatch hgnc:EID2 semapv:UnspecifiedMatching +OMIM:609773 EID2 skos:exactMatch hgnc.symbol:28292 semapv:UnspecifiedMatching +OMIM:609773 EID2 skos:exactMatch hgnc.symbol:EID2 semapv:UnspecifiedMatching OMIM:609773 EID2 skos:exactMatch ncbigene:163126 semapv:UnspecifiedMatching -OMIM:609774 API5 skos:exactMatch hgnc:API5 semapv:UnspecifiedMatching +OMIM:609774 API5 skos:exactMatch hgnc.symbol:594 semapv:UnspecifiedMatching +OMIM:609774 API5 skos:exactMatch hgnc.symbol:API5 semapv:UnspecifiedMatching OMIM:609774 API5 skos:exactMatch ncbigene:8539 semapv:UnspecifiedMatching -OMIM:609775 YIPF3 skos:exactMatch hgnc:YIPF3 semapv:UnspecifiedMatching +OMIM:609775 YIPF3 skos:exactMatch hgnc.symbol:21023 semapv:UnspecifiedMatching +OMIM:609775 YIPF3 skos:exactMatch hgnc.symbol:YIPF3 semapv:UnspecifiedMatching OMIM:609775 YIPF3 skos:exactMatch ncbigene:25844 semapv:UnspecifiedMatching -OMIM:609776 PRAP1 skos:exactMatch hgnc:PRAP1 semapv:UnspecifiedMatching +OMIM:609776 PRAP1 skos:exactMatch hgnc.symbol:23304 semapv:UnspecifiedMatching +OMIM:609776 PRAP1 skos:exactMatch hgnc.symbol:PRAP1 semapv:UnspecifiedMatching OMIM:609776 PRAP1 skos:exactMatch ncbigene:118471 semapv:UnspecifiedMatching -OMIM:609777 XIRP1 skos:exactMatch hgnc:XIRP1 semapv:UnspecifiedMatching +OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:14301 semapv:UnspecifiedMatching +OMIM:609777 XIRP1 skos:exactMatch hgnc.symbol:XIRP1 semapv:UnspecifiedMatching OMIM:609777 XIRP1 skos:exactMatch ncbigene:165904 semapv:UnspecifiedMatching -OMIM:609778 XIRP2 skos:exactMatch hgnc:XIRP2 semapv:UnspecifiedMatching +OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:14303 semapv:UnspecifiedMatching +OMIM:609778 XIRP2 skos:exactMatch hgnc.symbol:XIRP2 semapv:UnspecifiedMatching OMIM:609778 XIRP2 skos:exactMatch ncbigene:129446 semapv:UnspecifiedMatching -OMIM:609779 NEK11 skos:exactMatch hgnc:NEK11 semapv:UnspecifiedMatching +OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:18593 semapv:UnspecifiedMatching +OMIM:609779 NEK11 skos:exactMatch hgnc.symbol:NEK11 semapv:UnspecifiedMatching OMIM:609779 NEK11 skos:exactMatch ncbigene:79858 semapv:UnspecifiedMatching -OMIM:609780 CPVL skos:exactMatch hgnc:CPVL semapv:UnspecifiedMatching +OMIM:609780 CPVL skos:exactMatch hgnc.symbol:14399 semapv:UnspecifiedMatching +OMIM:609780 CPVL skos:exactMatch hgnc.symbol:CPVL semapv:UnspecifiedMatching OMIM:609780 CPVL skos:exactMatch ncbigene:54504 semapv:UnspecifiedMatching -OMIM:609783 ITIH5 skos:exactMatch hgnc:ITIH5 semapv:UnspecifiedMatching +OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:21449 semapv:UnspecifiedMatching +OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:ITIH5 semapv:UnspecifiedMatching OMIM:609783 ITIH5 skos:exactMatch ncbigene:80760 semapv:UnspecifiedMatching -OMIM:609784 UBP1 skos:exactMatch hgnc:UBP1 semapv:UnspecifiedMatching +OMIM:609784 UBP1 skos:exactMatch hgnc.symbol:12507 semapv:UnspecifiedMatching +OMIM:609784 UBP1 skos:exactMatch hgnc.symbol:UBP1 semapv:UnspecifiedMatching OMIM:609784 UBP1 skos:exactMatch ncbigene:7342 semapv:UnspecifiedMatching -OMIM:609785 TFCP2L1 skos:exactMatch hgnc:TFCP2L1 semapv:UnspecifiedMatching +OMIM:609785 TFCP2L1 skos:exactMatch hgnc.symbol:17925 semapv:UnspecifiedMatching +OMIM:609785 TFCP2L1 skos:exactMatch hgnc.symbol:TFCP2L1 semapv:UnspecifiedMatching OMIM:609785 TFCP2L1 skos:exactMatch ncbigene:29842 semapv:UnspecifiedMatching -OMIM:609786 GRHL1 skos:exactMatch hgnc:GRHL1 semapv:UnspecifiedMatching +OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:17923 semapv:UnspecifiedMatching +OMIM:609786 GRHL1 skos:exactMatch hgnc.symbol:GRHL1 semapv:UnspecifiedMatching OMIM:609786 GRHL1 skos:exactMatch ncbigene:29841 semapv:UnspecifiedMatching -OMIM:609787 UBAP1 skos:exactMatch hgnc:UBAP1 semapv:UnspecifiedMatching +OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:12461 semapv:UnspecifiedMatching +OMIM:609787 UBAP1 skos:exactMatch hgnc.symbol:UBAP1 semapv:UnspecifiedMatching OMIM:609787 UBAP1 skos:exactMatch ncbigene:51271 semapv:UnspecifiedMatching -OMIM:609788 XRRA1 skos:exactMatch hgnc:XRRA1 semapv:UnspecifiedMatching +OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:18868 semapv:UnspecifiedMatching +OMIM:609788 XRRA1 skos:exactMatch hgnc.symbol:XRRA1 semapv:UnspecifiedMatching OMIM:609788 XRRA1 skos:exactMatch ncbigene:143570 semapv:UnspecifiedMatching -OMIM:609789 AQP12A skos:exactMatch hgnc:AQP12A semapv:UnspecifiedMatching +OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:19941 semapv:UnspecifiedMatching +OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:AQP12A semapv:UnspecifiedMatching OMIM:609789 AQP12A skos:exactMatch ncbigene:375318 semapv:UnspecifiedMatching -OMIM:609791 LINGO1 skos:exactMatch hgnc:LINGO1 semapv:UnspecifiedMatching +OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:21205 semapv:UnspecifiedMatching +OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:LINGO1 semapv:UnspecifiedMatching OMIM:609791 LINGO1 skos:exactMatch ncbigene:84894 semapv:UnspecifiedMatching -OMIM:609792 LINGO3 skos:exactMatch hgnc:LINGO3 semapv:UnspecifiedMatching +OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:21206 semapv:UnspecifiedMatching +OMIM:609792 LINGO3 skos:exactMatch hgnc.symbol:LINGO3 semapv:UnspecifiedMatching OMIM:609792 LINGO3 skos:exactMatch ncbigene:645191 semapv:UnspecifiedMatching -OMIM:609793 LINGO2 skos:exactMatch hgnc:LINGO2 semapv:UnspecifiedMatching +OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:21207 semapv:UnspecifiedMatching +OMIM:609793 LINGO2 skos:exactMatch hgnc.symbol:LINGO2 semapv:UnspecifiedMatching OMIM:609793 LINGO2 skos:exactMatch ncbigene:158038 semapv:UnspecifiedMatching -OMIM:609794 LINGO4 skos:exactMatch hgnc:LINGO4 semapv:UnspecifiedMatching +OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:31814 semapv:UnspecifiedMatching +OMIM:609794 LINGO4 skos:exactMatch hgnc.symbol:LINGO4 semapv:UnspecifiedMatching OMIM:609794 LINGO4 skos:exactMatch ncbigene:339398 semapv:UnspecifiedMatching -OMIM:609795 QRFP skos:exactMatch hgnc:QRFP semapv:UnspecifiedMatching +OMIM:609795 QRFP skos:exactMatch hgnc.symbol:29982 semapv:UnspecifiedMatching +OMIM:609795 QRFP skos:exactMatch hgnc.symbol:QRFP semapv:UnspecifiedMatching OMIM:609795 QRFP skos:exactMatch ncbigene:347148 semapv:UnspecifiedMatching -OMIM:609797 BICD2 skos:exactMatch hgnc:BICD2 semapv:UnspecifiedMatching +OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:17208 semapv:UnspecifiedMatching +OMIM:609797 BICD2 skos:exactMatch hgnc.symbol:BICD2 semapv:UnspecifiedMatching OMIM:609797 BICD2 skos:exactMatch ncbigene:23299 semapv:UnspecifiedMatching -OMIM:609798 NEK9 skos:exactMatch hgnc:NEK9 semapv:UnspecifiedMatching +OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:18591 semapv:UnspecifiedMatching +OMIM:609798 NEK9 skos:exactMatch hgnc.symbol:NEK9 semapv:UnspecifiedMatching OMIM:609798 NEK9 skos:exactMatch ncbigene:91754 semapv:UnspecifiedMatching -OMIM:609799 NEK8 skos:exactMatch hgnc:NEK8 semapv:UnspecifiedMatching +OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:13387 semapv:UnspecifiedMatching +OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:NEK8 semapv:UnspecifiedMatching OMIM:609799 NEK8 skos:exactMatch ncbigene:284086 semapv:UnspecifiedMatching -OMIM:609801 CD300E skos:exactMatch hgnc:CD300E semapv:UnspecifiedMatching +OMIM:609801 CD300E skos:exactMatch hgnc.symbol:28874 semapv:UnspecifiedMatching +OMIM:609801 CD300E skos:exactMatch hgnc.symbol:CD300E semapv:UnspecifiedMatching OMIM:609801 CD300E skos:exactMatch ncbigene:342510 semapv:UnspecifiedMatching -OMIM:609802 SLC24A5 skos:exactMatch hgnc:SLC24A5 semapv:UnspecifiedMatching +OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:20611 semapv:UnspecifiedMatching +OMIM:609802 SLC24A5 skos:exactMatch hgnc.symbol:SLC24A5 semapv:UnspecifiedMatching OMIM:609802 SLC24A5 skos:exactMatch ncbigene:283652 semapv:UnspecifiedMatching -OMIM:609803 ANKAR skos:exactMatch hgnc:ANKAR semapv:UnspecifiedMatching +OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:26350 semapv:UnspecifiedMatching +OMIM:609803 ANKAR skos:exactMatch hgnc.symbol:ANKAR semapv:UnspecifiedMatching OMIM:609803 ANKAR skos:exactMatch ncbigene:150709 semapv:UnspecifiedMatching -OMIM:609804 CFAP52 skos:exactMatch hgnc:CFAP52 semapv:UnspecifiedMatching +OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:16053 semapv:UnspecifiedMatching +OMIM:609804 CFAP52 skos:exactMatch hgnc.symbol:CFAP52 semapv:UnspecifiedMatching OMIM:609804 CFAP52 skos:exactMatch ncbigene:146845 semapv:UnspecifiedMatching -OMIM:609805 SPATA19 skos:exactMatch hgnc:SPATA19 semapv:UnspecifiedMatching +OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:30614 semapv:UnspecifiedMatching +OMIM:609805 SPATA19 skos:exactMatch hgnc.symbol:SPATA19 semapv:UnspecifiedMatching OMIM:609805 SPATA19 skos:exactMatch ncbigene:219938 semapv:UnspecifiedMatching OMIM:609806 HMBS skos:exactMatch UMLS:C0162565 semapv:UnspecifiedMatching OMIM:609806 HMBS skos:exactMatch UMLS:C1415597 semapv:UnspecifiedMatching OMIM:609806 HMBS skos:exactMatch UMLS:C1867969 semapv:UnspecifiedMatching -OMIM:609806 HMBS skos:exactMatch hgnc:HMBS semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch hgnc.symbol:4982 semapv:UnspecifiedMatching +OMIM:609806 HMBS skos:exactMatch hgnc.symbol:HMBS semapv:UnspecifiedMatching OMIM:609806 HMBS skos:exactMatch ncbigene:3145 semapv:UnspecifiedMatching -OMIM:609807 CD300LF skos:exactMatch hgnc:CD300LF semapv:UnspecifiedMatching +OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:29883 semapv:UnspecifiedMatching +OMIM:609807 CD300LF skos:exactMatch hgnc.symbol:CD300LF semapv:UnspecifiedMatching OMIM:609807 CD300LF skos:exactMatch ncbigene:146722 semapv:UnspecifiedMatching -OMIM:609809 LIME1 skos:exactMatch hgnc:LIME1 semapv:UnspecifiedMatching +OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:26016 semapv:UnspecifiedMatching +OMIM:609809 LIME1 skos:exactMatch hgnc.symbol:LIME1 semapv:UnspecifiedMatching OMIM:609809 LIME1 skos:exactMatch ncbigene:54923 semapv:UnspecifiedMatching -OMIM:609810 PEG10 skos:exactMatch hgnc:PEG10 semapv:UnspecifiedMatching +OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:14005 semapv:UnspecifiedMatching +OMIM:609810 PEG10 skos:exactMatch hgnc.symbol:PEG10 semapv:UnspecifiedMatching OMIM:609810 PEG10 skos:exactMatch ncbigene:23089 semapv:UnspecifiedMatching -OMIM:609811 COX7B2 skos:exactMatch hgnc:COX7B2 semapv:UnspecifiedMatching +OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:24381 semapv:UnspecifiedMatching +OMIM:609811 COX7B2 skos:exactMatch hgnc.symbol:COX7B2 semapv:UnspecifiedMatching OMIM:609811 COX7B2 skos:exactMatch ncbigene:170712 semapv:UnspecifiedMatching -OMIM:609816 NBEAL1 skos:exactMatch hgnc:NBEAL1 semapv:UnspecifiedMatching +OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:20681 semapv:UnspecifiedMatching +OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:NBEAL1 semapv:UnspecifiedMatching OMIM:609816 NBEAL1 skos:exactMatch ncbigene:65065 semapv:UnspecifiedMatching -OMIM:609818 USP10 skos:exactMatch hgnc:USP10 semapv:UnspecifiedMatching +OMIM:609818 USP10 skos:exactMatch hgnc.symbol:12608 semapv:UnspecifiedMatching +OMIM:609818 USP10 skos:exactMatch hgnc.symbol:USP10 semapv:UnspecifiedMatching OMIM:609818 USP10 skos:exactMatch ncbigene:9100 semapv:UnspecifiedMatching -OMIM:609819 PRAC1 skos:exactMatch hgnc:PRAC1 semapv:UnspecifiedMatching +OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:30591 semapv:UnspecifiedMatching +OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:PRAC1 semapv:UnspecifiedMatching OMIM:609819 PRAC1 skos:exactMatch ncbigene:84366 semapv:UnspecifiedMatching OMIM:609824 HORMAD1 skos:exactMatch UMLS:C1539674 semapv:UnspecifiedMatching -OMIM:609824 HORMAD1 skos:exactMatch hgnc:HORMAD1 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:25245 semapv:UnspecifiedMatching +OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:HORMAD1 semapv:UnspecifiedMatching OMIM:609824 HORMAD1 skos:exactMatch ncbigene:84072 semapv:UnspecifiedMatching -OMIM:609825 COQ2 skos:exactMatch hgnc:COQ2 semapv:UnspecifiedMatching +OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:25223 semapv:UnspecifiedMatching +OMIM:609825 COQ2 skos:exactMatch hgnc.symbol:COQ2 semapv:UnspecifiedMatching OMIM:609825 COQ2 skos:exactMatch ncbigene:27235 semapv:UnspecifiedMatching -OMIM:609826 SLC34A3 skos:exactMatch hgnc:SLC34A3 semapv:UnspecifiedMatching +OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:20305 semapv:UnspecifiedMatching +OMIM:609826 SLC34A3 skos:exactMatch hgnc.symbol:SLC34A3 semapv:UnspecifiedMatching OMIM:609826 SLC34A3 skos:exactMatch ncbigene:142680 semapv:UnspecifiedMatching OMIM:609827 PELI3 skos:exactMatch UMLS:C1826566 semapv:UnspecifiedMatching -OMIM:609827 PELI3 skos:exactMatch hgnc:PELI3 semapv:UnspecifiedMatching +OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:30010 semapv:UnspecifiedMatching +OMIM:609827 PELI3 skos:exactMatch hgnc.symbol:PELI3 semapv:UnspecifiedMatching OMIM:609827 PELI3 skos:exactMatch ncbigene:246330 semapv:UnspecifiedMatching -OMIM:609828 FSD1 skos:exactMatch hgnc:FSD1 semapv:UnspecifiedMatching +OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:13745 semapv:UnspecifiedMatching +OMIM:609828 FSD1 skos:exactMatch hgnc.symbol:FSD1 semapv:UnspecifiedMatching OMIM:609828 FSD1 skos:exactMatch ncbigene:79187 semapv:UnspecifiedMatching -OMIM:609829 FSD1NL skos:exactMatch hgnc:FSD1L semapv:UnspecifiedMatching +OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:13753 semapv:UnspecifiedMatching +OMIM:609829 FSD1NL skos:exactMatch hgnc.symbol:FSD1L semapv:UnspecifiedMatching OMIM:609829 FSD1NL skos:exactMatch ncbigene:83856 semapv:UnspecifiedMatching -OMIM:609831 MMACHC skos:exactMatch hgnc:MMACHC semapv:UnspecifiedMatching +OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:24525 semapv:UnspecifiedMatching +OMIM:609831 MMACHC skos:exactMatch hgnc.symbol:MMACHC semapv:UnspecifiedMatching OMIM:609831 MMACHC skos:exactMatch ncbigene:25974 semapv:UnspecifiedMatching -OMIM:609832 SLC47A1 skos:exactMatch hgnc:SLC47A1 semapv:UnspecifiedMatching +OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:25588 semapv:UnspecifiedMatching +OMIM:609832 SLC47A1 skos:exactMatch hgnc.symbol:SLC47A1 semapv:UnspecifiedMatching OMIM:609832 SLC47A1 skos:exactMatch ncbigene:55244 semapv:UnspecifiedMatching -OMIM:609833 SLC47A2 skos:exactMatch hgnc:SLC47A2 semapv:UnspecifiedMatching +OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:26439 semapv:UnspecifiedMatching +OMIM:609833 SLC47A2 skos:exactMatch hgnc.symbol:SLC47A2 semapv:UnspecifiedMatching OMIM:609833 SLC47A2 skos:exactMatch ncbigene:146802 semapv:UnspecifiedMatching -OMIM:609834 SETMAR skos:exactMatch hgnc:SETMAR semapv:UnspecifiedMatching +OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:10762 semapv:UnspecifiedMatching +OMIM:609834 SETMAR skos:exactMatch hgnc.symbol:SETMAR semapv:UnspecifiedMatching OMIM:609834 SETMAR skos:exactMatch ncbigene:6419 semapv:UnspecifiedMatching -OMIM:609835 MYCBPAP skos:exactMatch hgnc:MYCBPAP semapv:UnspecifiedMatching +OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:19677 semapv:UnspecifiedMatching +OMIM:609835 MYCBPAP skos:exactMatch hgnc.symbol:MYCBPAP semapv:UnspecifiedMatching OMIM:609835 MYCBPAP skos:exactMatch ncbigene:84073 semapv:UnspecifiedMatching -OMIM:609836 PCBD2 skos:exactMatch hgnc:PCBD2 semapv:UnspecifiedMatching +OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:24474 semapv:UnspecifiedMatching +OMIM:609836 PCBD2 skos:exactMatch hgnc.symbol:PCBD2 semapv:UnspecifiedMatching OMIM:609836 PCBD2 skos:exactMatch ncbigene:84105 semapv:UnspecifiedMatching -OMIM:609837 SNORD115-1 skos:exactMatch hgnc:SNORD115-1 semapv:UnspecifiedMatching +OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:33020 semapv:UnspecifiedMatching +OMIM:609837 SNORD115-1 skos:exactMatch hgnc.symbol:SNORD115-1 semapv:UnspecifiedMatching OMIM:609837 SNORD115-1 skos:exactMatch ncbigene:338433 semapv:UnspecifiedMatching -OMIM:609838 SLC24A2 skos:exactMatch hgnc:SLC24A2 semapv:UnspecifiedMatching +OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:10976 semapv:UnspecifiedMatching +OMIM:609838 SLC24A2 skos:exactMatch hgnc.symbol:SLC24A2 semapv:UnspecifiedMatching OMIM:609838 SLC24A2 skos:exactMatch ncbigene:25769 semapv:UnspecifiedMatching -OMIM:609839 SLC24A3 skos:exactMatch hgnc:SLC24A3 semapv:UnspecifiedMatching +OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:10977 semapv:UnspecifiedMatching +OMIM:609839 SLC24A3 skos:exactMatch hgnc.symbol:SLC24A3 semapv:UnspecifiedMatching OMIM:609839 SLC24A3 skos:exactMatch ncbigene:57419 semapv:UnspecifiedMatching OMIM:609840 SLC24A4 skos:exactMatch UMLS:C1420149 semapv:UnspecifiedMatching OMIM:609840 SLC24A4 skos:exactMatch UMLS:C2673866 semapv:UnspecifiedMatching OMIM:609840 SLC24A4 skos:exactMatch UMLS:C4014578 semapv:UnspecifiedMatching -OMIM:609840 SLC24A4 skos:exactMatch hgnc:SLC24A4 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:10978 semapv:UnspecifiedMatching +OMIM:609840 SLC24A4 skos:exactMatch hgnc.symbol:SLC24A4 semapv:UnspecifiedMatching OMIM:609840 SLC24A4 skos:exactMatch ncbigene:123041 semapv:UnspecifiedMatching -OMIM:609841 SLC8B1 skos:exactMatch hgnc:SLC8B1 semapv:UnspecifiedMatching +OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:26175 semapv:UnspecifiedMatching +OMIM:609841 SLC8B1 skos:exactMatch hgnc.symbol:SLC8B1 semapv:UnspecifiedMatching OMIM:609841 SLC8B1 skos:exactMatch ncbigene:80024 semapv:UnspecifiedMatching -OMIM:609842 EDC3 skos:exactMatch hgnc:EDC3 semapv:UnspecifiedMatching +OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:26114 semapv:UnspecifiedMatching +OMIM:609842 EDC3 skos:exactMatch hgnc.symbol:EDC3 semapv:UnspecifiedMatching OMIM:609842 EDC3 skos:exactMatch ncbigene:80153 semapv:UnspecifiedMatching OMIM:609843 DCP1B skos:exactMatch UMLS:C1539226 semapv:UnspecifiedMatching -OMIM:609843 DCP1B skos:exactMatch hgnc:DCP1B semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:24451 semapv:UnspecifiedMatching +OMIM:609843 DCP1B skos:exactMatch hgnc.symbol:DCP1B semapv:UnspecifiedMatching OMIM:609843 DCP1B skos:exactMatch ncbigene:196513 semapv:UnspecifiedMatching OMIM:609844 DCP2 skos:exactMatch UMLS:C1539227 semapv:UnspecifiedMatching -OMIM:609844 DCP2 skos:exactMatch hgnc:DCP2 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:24452 semapv:UnspecifiedMatching +OMIM:609844 DCP2 skos:exactMatch hgnc.symbol:DCP2 semapv:UnspecifiedMatching OMIM:609844 DCP2 skos:exactMatch ncbigene:167227 semapv:UnspecifiedMatching -OMIM:609845 SI skos:exactMatch hgnc:SI semapv:UnspecifiedMatching +OMIM:609845 SI skos:exactMatch hgnc.symbol:10856 semapv:UnspecifiedMatching +OMIM:609845 SI skos:exactMatch hgnc.symbol:SI semapv:UnspecifiedMatching OMIM:609845 SI skos:exactMatch ncbigene:6476 semapv:UnspecifiedMatching -OMIM:609846 REG4 skos:exactMatch hgnc:REG4 semapv:UnspecifiedMatching +OMIM:609846 REG4 skos:exactMatch hgnc.symbol:22977 semapv:UnspecifiedMatching +OMIM:609846 REG4 skos:exactMatch hgnc.symbol:REG4 semapv:UnspecifiedMatching OMIM:609846 REG4 skos:exactMatch ncbigene:83998 semapv:UnspecifiedMatching OMIM:609847 NOTUM skos:exactMatch UMLS:C1835953 semapv:UnspecifiedMatching -OMIM:609847 NOTUM skos:exactMatch hgnc:NOTUM semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:27106 semapv:UnspecifiedMatching +OMIM:609847 NOTUM skos:exactMatch hgnc.symbol:NOTUM semapv:UnspecifiedMatching OMIM:609847 NOTUM skos:exactMatch ncbigene:147111 semapv:UnspecifiedMatching -OMIM:609848 KCTD11 skos:exactMatch hgnc:KCTD11 semapv:UnspecifiedMatching +OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:21302 semapv:UnspecifiedMatching +OMIM:609848 KCTD11 skos:exactMatch hgnc.symbol:KCTD11 semapv:UnspecifiedMatching OMIM:609848 KCTD11 skos:exactMatch ncbigene:147040 semapv:UnspecifiedMatching -OMIM:609849 CORO1B skos:exactMatch hgnc:CORO1B semapv:UnspecifiedMatching +OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:2253 semapv:UnspecifiedMatching +OMIM:609849 CORO1B skos:exactMatch hgnc.symbol:CORO1B semapv:UnspecifiedMatching OMIM:609849 CORO1B skos:exactMatch ncbigene:57175 semapv:UnspecifiedMatching -OMIM:609850 TBC1D1 skos:exactMatch hgnc:TBC1D1 semapv:UnspecifiedMatching +OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:11578 semapv:UnspecifiedMatching +OMIM:609850 TBC1D1 skos:exactMatch hgnc.symbol:TBC1D1 semapv:UnspecifiedMatching OMIM:609850 TBC1D1 skos:exactMatch ncbigene:23216 semapv:UnspecifiedMatching -OMIM:609851 IPMK skos:exactMatch hgnc:IPMK semapv:UnspecifiedMatching +OMIM:609851 IPMK skos:exactMatch hgnc.symbol:20739 semapv:UnspecifiedMatching +OMIM:609851 IPMK skos:exactMatch hgnc.symbol:IPMK semapv:UnspecifiedMatching OMIM:609851 IPMK skos:exactMatch ncbigene:253430 semapv:UnspecifiedMatching -OMIM:609852 MIXL1 skos:exactMatch hgnc:MIXL1 semapv:UnspecifiedMatching +OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:13363 semapv:UnspecifiedMatching +OMIM:609852 MIXL1 skos:exactMatch hgnc.symbol:MIXL1 semapv:UnspecifiedMatching OMIM:609852 MIXL1 skos:exactMatch ncbigene:83881 semapv:UnspecifiedMatching -OMIM:609853 PPCS skos:exactMatch hgnc:PPCS semapv:UnspecifiedMatching +OMIM:609853 PPCS skos:exactMatch hgnc.symbol:25686 semapv:UnspecifiedMatching +OMIM:609853 PPCS skos:exactMatch hgnc.symbol:PPCS semapv:UnspecifiedMatching OMIM:609853 PPCS skos:exactMatch ncbigene:79717 semapv:UnspecifiedMatching -OMIM:609854 PPCDC skos:exactMatch hgnc:PPCDC semapv:UnspecifiedMatching +OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:28107 semapv:UnspecifiedMatching +OMIM:609854 PPCDC skos:exactMatch hgnc.symbol:PPCDC semapv:UnspecifiedMatching OMIM:609854 PPCDC skos:exactMatch ncbigene:60490 semapv:UnspecifiedMatching -OMIM:609855 COASY skos:exactMatch hgnc:COASY semapv:UnspecifiedMatching +OMIM:609855 COASY skos:exactMatch hgnc.symbol:29932 semapv:UnspecifiedMatching +OMIM:609855 COASY skos:exactMatch hgnc.symbol:COASY semapv:UnspecifiedMatching OMIM:609855 COASY skos:exactMatch ncbigene:80347 semapv:UnspecifiedMatching -OMIM:609856 SPATA16 skos:exactMatch hgnc:SPATA16 semapv:UnspecifiedMatching +OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:29935 semapv:UnspecifiedMatching +OMIM:609856 SPATA16 skos:exactMatch hgnc.symbol:SPATA16 semapv:UnspecifiedMatching OMIM:609856 SPATA16 skos:exactMatch ncbigene:83893 semapv:UnspecifiedMatching -OMIM:609857 DMWD skos:exactMatch hgnc:DMWD semapv:UnspecifiedMatching +OMIM:609857 DMWD skos:exactMatch hgnc.symbol:2936 semapv:UnspecifiedMatching +OMIM:609857 DMWD skos:exactMatch hgnc.symbol:DMWD semapv:UnspecifiedMatching OMIM:609857 DMWD skos:exactMatch ncbigene:1762 semapv:UnspecifiedMatching -OMIM:609858 ETNK1 skos:exactMatch hgnc:ETNK1 semapv:UnspecifiedMatching +OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:24649 semapv:UnspecifiedMatching +OMIM:609858 ETNK1 skos:exactMatch hgnc.symbol:ETNK1 semapv:UnspecifiedMatching OMIM:609858 ETNK1 skos:exactMatch ncbigene:55500 semapv:UnspecifiedMatching -OMIM:609859 ETNK2 skos:exactMatch hgnc:ETNK2 semapv:UnspecifiedMatching +OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:25575 semapv:UnspecifiedMatching +OMIM:609859 ETNK2 skos:exactMatch hgnc.symbol:ETNK2 semapv:UnspecifiedMatching OMIM:609859 ETNK2 skos:exactMatch ncbigene:55224 semapv:UnspecifiedMatching -OMIM:609860 dad1-related gene skos:exactMatch hgnc:DAD1P1 semapv:UnspecifiedMatching +OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:18295 semapv:UnspecifiedMatching +OMIM:609860 dad1-related gene skos:exactMatch hgnc.symbol:DAD1P1 semapv:UnspecifiedMatching OMIM:609860 dad1-related gene skos:exactMatch ncbigene:56286 semapv:UnspecifiedMatching -OMIM:609861 IKBIP skos:exactMatch hgnc:IKBIP semapv:UnspecifiedMatching +OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:26430 semapv:UnspecifiedMatching +OMIM:609861 IKBIP skos:exactMatch hgnc.symbol:IKBIP semapv:UnspecifiedMatching OMIM:609861 IKBIP skos:exactMatch ncbigene:121457 semapv:UnspecifiedMatching -OMIM:609862 TMPRSS6 skos:exactMatch hgnc:TMPRSS6 semapv:UnspecifiedMatching +OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:16517 semapv:UnspecifiedMatching +OMIM:609862 TMPRSS6 skos:exactMatch hgnc.symbol:TMPRSS6 semapv:UnspecifiedMatching OMIM:609862 TMPRSS6 skos:exactMatch ncbigene:164656 semapv:UnspecifiedMatching -OMIM:609863 TCTN1 skos:exactMatch hgnc:TCTN1 semapv:UnspecifiedMatching +OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:26113 semapv:UnspecifiedMatching +OMIM:609863 TCTN1 skos:exactMatch hgnc.symbol:TCTN1 semapv:UnspecifiedMatching OMIM:609863 TCTN1 skos:exactMatch ncbigene:79600 semapv:UnspecifiedMatching -OMIM:609864 PIP4P2 skos:exactMatch hgnc:PIP4P2 semapv:UnspecifiedMatching +OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:25452 semapv:UnspecifiedMatching +OMIM:609864 PIP4P2 skos:exactMatch hgnc.symbol:PIP4P2 semapv:UnspecifiedMatching OMIM:609864 PIP4P2 skos:exactMatch ncbigene:55529 semapv:UnspecifiedMatching -OMIM:609865 PIP4P1 skos:exactMatch hgnc:PIP4P1 semapv:UnspecifiedMatching +OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:19299 semapv:UnspecifiedMatching +OMIM:609865 PIP4P1 skos:exactMatch hgnc.symbol:PIP4P1 semapv:UnspecifiedMatching OMIM:609865 PIP4P1 skos:exactMatch ncbigene:90809 semapv:UnspecifiedMatching -OMIM:609866 STARD13 skos:exactMatch hgnc:STARD13 semapv:UnspecifiedMatching +OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:19164 semapv:UnspecifiedMatching +OMIM:609866 STARD13 skos:exactMatch hgnc.symbol:STARD13 semapv:UnspecifiedMatching OMIM:609866 STARD13 skos:exactMatch ncbigene:90627 semapv:UnspecifiedMatching -OMIM:609867 UBLCP1 skos:exactMatch hgnc:UBLCP1 semapv:UnspecifiedMatching +OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:28110 semapv:UnspecifiedMatching +OMIM:609867 UBLCP1 skos:exactMatch hgnc.symbol:UBLCP1 semapv:UnspecifiedMatching OMIM:609867 UBLCP1 skos:exactMatch ncbigene:134510 semapv:UnspecifiedMatching -OMIM:609868 SPATA7 skos:exactMatch hgnc:SPATA7 semapv:UnspecifiedMatching +OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:20423 semapv:UnspecifiedMatching +OMIM:609868 SPATA7 skos:exactMatch hgnc.symbol:SPATA7 semapv:UnspecifiedMatching OMIM:609868 SPATA7 skos:exactMatch ncbigene:55812 semapv:UnspecifiedMatching -OMIM:609869 SPATA12 skos:exactMatch hgnc:SPATA12 semapv:UnspecifiedMatching +OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:23221 semapv:UnspecifiedMatching +OMIM:609869 SPATA12 skos:exactMatch hgnc.symbol:SPATA12 semapv:UnspecifiedMatching OMIM:609869 SPATA12 skos:exactMatch ncbigene:353324 semapv:UnspecifiedMatching -OMIM:609870 ARHGAP21 skos:exactMatch hgnc:ARHGAP21 semapv:UnspecifiedMatching +OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:23725 semapv:UnspecifiedMatching +OMIM:609870 ARHGAP21 skos:exactMatch hgnc.symbol:ARHGAP21 semapv:UnspecifiedMatching OMIM:609870 ARHGAP21 skos:exactMatch ncbigene:57584 semapv:UnspecifiedMatching -OMIM:609871 TBC1D2 skos:exactMatch hgnc:TBC1D2 semapv:UnspecifiedMatching +OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:18026 semapv:UnspecifiedMatching +OMIM:609871 TBC1D2 skos:exactMatch hgnc.symbol:TBC1D2 semapv:UnspecifiedMatching OMIM:609871 TBC1D2 skos:exactMatch ncbigene:55357 semapv:UnspecifiedMatching -OMIM:609872 WFDC12 skos:exactMatch hgnc:WFDC12 semapv:UnspecifiedMatching +OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:16115 semapv:UnspecifiedMatching +OMIM:609872 WFDC12 skos:exactMatch hgnc.symbol:WFDC12 semapv:UnspecifiedMatching OMIM:609872 WFDC12 skos:exactMatch ncbigene:128488 semapv:UnspecifiedMatching -OMIM:609873 ITLN1 skos:exactMatch hgnc:ITLN1 semapv:UnspecifiedMatching +OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:18259 semapv:UnspecifiedMatching +OMIM:609873 ITLN1 skos:exactMatch hgnc.symbol:ITLN1 semapv:UnspecifiedMatching OMIM:609873 ITLN1 skos:exactMatch ncbigene:55600 semapv:UnspecifiedMatching -OMIM:609874 ITLN2 skos:exactMatch hgnc:ITLN2 semapv:UnspecifiedMatching +OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:20599 semapv:UnspecifiedMatching +OMIM:609874 ITLN2 skos:exactMatch hgnc.symbol:ITLN2 semapv:UnspecifiedMatching OMIM:609874 ITLN2 skos:exactMatch ncbigene:142683 semapv:UnspecifiedMatching -OMIM:609875 ATOH7 skos:exactMatch hgnc:ATOH7 semapv:UnspecifiedMatching +OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:13907 semapv:UnspecifiedMatching +OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:ATOH7 semapv:UnspecifiedMatching OMIM:609875 ATOH7 skos:exactMatch ncbigene:220202 semapv:UnspecifiedMatching -OMIM:609877 CRYL1 skos:exactMatch hgnc:CRYL1 semapv:UnspecifiedMatching +OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:18246 semapv:UnspecifiedMatching +OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:CRYL1 semapv:UnspecifiedMatching OMIM:609877 CRYL1 skos:exactMatch ncbigene:51084 semapv:UnspecifiedMatching -OMIM:609878 MED9 skos:exactMatch hgnc:MED9 semapv:UnspecifiedMatching +OMIM:609878 MED9 skos:exactMatch hgnc.symbol:25487 semapv:UnspecifiedMatching +OMIM:609878 MED9 skos:exactMatch hgnc.symbol:MED9 semapv:UnspecifiedMatching OMIM:609878 MED9 skos:exactMatch ncbigene:55090 semapv:UnspecifiedMatching -OMIM:609879 SPATA4 skos:exactMatch hgnc:SPATA4 semapv:UnspecifiedMatching +OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:17333 semapv:UnspecifiedMatching +OMIM:609879 SPATA4 skos:exactMatch hgnc.symbol:SPATA4 semapv:UnspecifiedMatching OMIM:609879 SPATA4 skos:exactMatch ncbigene:132851 semapv:UnspecifiedMatching OMIM:609880 KAT7 skos:exactMatch UMLS:C1424687 semapv:UnspecifiedMatching -OMIM:609880 KAT7 skos:exactMatch hgnc:KAT7 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:17016 semapv:UnspecifiedMatching +OMIM:609880 KAT7 skos:exactMatch hgnc.symbol:KAT7 semapv:UnspecifiedMatching OMIM:609880 KAT7 skos:exactMatch ncbigene:11143 semapv:UnspecifiedMatching -OMIM:609881 POLR2J2 skos:exactMatch hgnc:POLR2J2 semapv:UnspecifiedMatching +OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:23208 semapv:UnspecifiedMatching +OMIM:609881 POLR2J2 skos:exactMatch hgnc.symbol:POLR2J2 semapv:UnspecifiedMatching OMIM:609881 POLR2J2 skos:exactMatch ncbigene:246721 semapv:UnspecifiedMatching -OMIM:609882 MTF2 skos:exactMatch hgnc:MTF2 semapv:UnspecifiedMatching +OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:29535 semapv:UnspecifiedMatching +OMIM:609882 MTF2 skos:exactMatch hgnc.symbol:MTF2 semapv:UnspecifiedMatching OMIM:609882 MTF2 skos:exactMatch ncbigene:22823 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C1417186 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C3714506 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching -OMIM:609883 MKS1 skos:exactMatch hgnc:MKS1 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:7121 semapv:UnspecifiedMatching +OMIM:609883 MKS1 skos:exactMatch hgnc.symbol:MKS1 semapv:UnspecifiedMatching OMIM:609883 MKS1 skos:exactMatch ncbigene:54903 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C1823331 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C1846357 semapv:UnspecifiedMatching @@ -27864,2419 +38750,3460 @@ OMIM:609884 TMEM67 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017203 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C4017204 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch UMLS:C5435651 semapv:UnspecifiedMatching -OMIM:609884 TMEM67 skos:exactMatch hgnc:TMEM67 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:28396 semapv:UnspecifiedMatching +OMIM:609884 TMEM67 skos:exactMatch hgnc.symbol:TMEM67 semapv:UnspecifiedMatching OMIM:609884 TMEM67 skos:exactMatch ncbigene:91147 semapv:UnspecifiedMatching -OMIM:609885 ELL3 skos:exactMatch hgnc:ELL3 semapv:UnspecifiedMatching +OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:23113 semapv:UnspecifiedMatching +OMIM:609885 ELL3 skos:exactMatch hgnc.symbol:ELL3 semapv:UnspecifiedMatching OMIM:609885 ELL3 skos:exactMatch ncbigene:80237 semapv:UnspecifiedMatching +OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch UMLS:C1835932 semapv:UnspecifiedMatching -OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch orphanet.ordo:548 semapv:UnspecifiedMatching -OMIM:609890 UBR4 skos:exactMatch hgnc:UBR4 semapv:UnspecifiedMatching +OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:30313 semapv:UnspecifiedMatching +OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:UBR4 semapv:UnspecifiedMatching OMIM:609890 UBR4 skos:exactMatch ncbigene:23352 semapv:UnspecifiedMatching -OMIM:609891 RIPPLY2 skos:exactMatch hgnc:RIPPLY2 semapv:UnspecifiedMatching +OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:21390 semapv:UnspecifiedMatching +OMIM:609891 RIPPLY2 skos:exactMatch hgnc.symbol:RIPPLY2 semapv:UnspecifiedMatching OMIM:609891 RIPPLY2 skos:exactMatch ncbigene:134701 semapv:UnspecifiedMatching OMIM:609892 RIPPLY3 skos:exactMatch UMLS:C1414167 semapv:UnspecifiedMatching -OMIM:609892 RIPPLY3 skos:exactMatch hgnc:RIPPLY3 semapv:UnspecifiedMatching +OMIM:609892 RIPPLY3 skos:exactMatch hgnc.symbol:3047 semapv:UnspecifiedMatching +OMIM:609892 RIPPLY3 skos:exactMatch hgnc.symbol:RIPPLY3 semapv:UnspecifiedMatching OMIM:609892 RIPPLY3 skos:exactMatch ncbigene:53820 semapv:UnspecifiedMatching OMIM:609894 UNC13A skos:exactMatch UMLS:C1427949 semapv:UnspecifiedMatching OMIM:609894 UNC13A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:609894 UNC13A skos:exactMatch hgnc:UNC13A semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:23150 semapv:UnspecifiedMatching +OMIM:609894 UNC13A skos:exactMatch hgnc.symbol:UNC13A semapv:UnspecifiedMatching OMIM:609894 UNC13A skos:exactMatch ncbigene:23025 semapv:UnspecifiedMatching -OMIM:609895 CASZ1 skos:exactMatch hgnc:CASZ1 semapv:UnspecifiedMatching +OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:26002 semapv:UnspecifiedMatching +OMIM:609895 CASZ1 skos:exactMatch hgnc.symbol:CASZ1 semapv:UnspecifiedMatching OMIM:609895 CASZ1 skos:exactMatch ncbigene:54897 semapv:UnspecifiedMatching -OMIM:609896 EIF4E3 skos:exactMatch hgnc:EIF4E3 semapv:UnspecifiedMatching +OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:31837 semapv:UnspecifiedMatching +OMIM:609896 EIF4E3 skos:exactMatch hgnc.symbol:EIF4E3 semapv:UnspecifiedMatching OMIM:609896 EIF4E3 skos:exactMatch ncbigene:317649 semapv:UnspecifiedMatching -OMIM:609897 EGFL8 skos:exactMatch hgnc:EGFL8 semapv:UnspecifiedMatching +OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:13944 semapv:UnspecifiedMatching +OMIM:609897 EGFL8 skos:exactMatch hgnc.symbol:EGFL8 semapv:UnspecifiedMatching OMIM:609897 EGFL8 skos:exactMatch ncbigene:80864 semapv:UnspecifiedMatching -OMIM:609898 KREMEN1 skos:exactMatch hgnc:KREMEN1 semapv:UnspecifiedMatching +OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:17550 semapv:UnspecifiedMatching +OMIM:609898 KREMEN1 skos:exactMatch hgnc.symbol:KREMEN1 semapv:UnspecifiedMatching OMIM:609898 KREMEN1 skos:exactMatch ncbigene:83999 semapv:UnspecifiedMatching -OMIM:609899 KREMEN2 skos:exactMatch hgnc:KREMEN2 semapv:UnspecifiedMatching +OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:18797 semapv:UnspecifiedMatching +OMIM:609899 KREMEN2 skos:exactMatch hgnc.symbol:KREMEN2 semapv:UnspecifiedMatching OMIM:609899 KREMEN2 skos:exactMatch ncbigene:79412 semapv:UnspecifiedMatching -OMIM:609900 APOBEC3D skos:exactMatch hgnc:APOBEC3D semapv:UnspecifiedMatching +OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:17354 semapv:UnspecifiedMatching +OMIM:609900 APOBEC3D skos:exactMatch hgnc.symbol:APOBEC3D semapv:UnspecifiedMatching OMIM:609900 APOBEC3D skos:exactMatch ncbigene:140564 semapv:UnspecifiedMatching -OMIM:609901 ANKS4B skos:exactMatch hgnc:ANKS4B semapv:UnspecifiedMatching +OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:26795 semapv:UnspecifiedMatching +OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:ANKS4B semapv:UnspecifiedMatching OMIM:609901 ANKS4B skos:exactMatch ncbigene:257629 semapv:UnspecifiedMatching -OMIM:609904 HIST1H2BA skos:exactMatch hgnc:H2BC1 semapv:UnspecifiedMatching +OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:18730 semapv:UnspecifiedMatching +OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:H2BC1 semapv:UnspecifiedMatching OMIM:609904 HIST1H2BA skos:exactMatch ncbigene:255626 semapv:UnspecifiedMatching -OMIM:609905 MYL9 skos:exactMatch hgnc:MYL9 semapv:UnspecifiedMatching +OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:15754 semapv:UnspecifiedMatching +OMIM:609905 MYL9 skos:exactMatch hgnc.symbol:MYL9 semapv:UnspecifiedMatching OMIM:609905 MYL9 skos:exactMatch ncbigene:10398 semapv:UnspecifiedMatching OMIM:609906 EFS skos:exactMatch UMLS:C1424622 semapv:UnspecifiedMatching -OMIM:609906 EFS skos:exactMatch hgnc:EFS semapv:UnspecifiedMatching +OMIM:609906 EFS skos:exactMatch hgnc.symbol:16898 semapv:UnspecifiedMatching +OMIM:609906 EFS skos:exactMatch hgnc.symbol:EFS semapv:UnspecifiedMatching OMIM:609906 EFS skos:exactMatch ncbigene:10278 semapv:UnspecifiedMatching -OMIM:609907 SEMA3D skos:exactMatch hgnc:SEMA3D semapv:UnspecifiedMatching +OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:10726 semapv:UnspecifiedMatching +OMIM:609907 SEMA3D skos:exactMatch hgnc.symbol:SEMA3D semapv:UnspecifiedMatching OMIM:609907 SEMA3D skos:exactMatch ncbigene:223117 semapv:UnspecifiedMatching -OMIM:609908 APOBEC4 skos:exactMatch hgnc:APOBEC4 semapv:UnspecifiedMatching +OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:32152 semapv:UnspecifiedMatching +OMIM:609908 APOBEC4 skos:exactMatch hgnc.symbol:APOBEC4 semapv:UnspecifiedMatching OMIM:609908 APOBEC4 skos:exactMatch ncbigene:403314 semapv:UnspecifiedMatching -OMIM:609910 CFAP91 skos:exactMatch hgnc:CFAP91 semapv:UnspecifiedMatching +OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:24010 semapv:UnspecifiedMatching +OMIM:609910 CFAP91 skos:exactMatch hgnc.symbol:CFAP91 semapv:UnspecifiedMatching OMIM:609910 CFAP91 skos:exactMatch ncbigene:89876 semapv:UnspecifiedMatching -OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc:SLC25A47 semapv:UnspecifiedMatching +OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:20115 semapv:UnspecifiedMatching +OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch hgnc.symbol:SLC25A47 semapv:UnspecifiedMatching OMIM:609911 hepatocellular carcinoma-downregulated mitochondrial carrier protein skos:exactMatch ncbigene:283600 semapv:UnspecifiedMatching OMIM:609912 KAT8 skos:exactMatch UMLS:C1425187 semapv:UnspecifiedMatching OMIM:609912 KAT8 skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching -OMIM:609912 KAT8 skos:exactMatch hgnc:KAT8 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:17933 semapv:UnspecifiedMatching +OMIM:609912 KAT8 skos:exactMatch hgnc.symbol:KAT8 semapv:UnspecifiedMatching OMIM:609912 KAT8 skos:exactMatch ncbigene:84148 semapv:UnspecifiedMatching +OMIM:609913 retinitis pigmentosa 32 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:609913 retinitis pigmentosa 32 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching -OMIM:609913 retinitis pigmentosa 32 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching -OMIM:609914 AQP11 skos:exactMatch hgnc:AQP11 semapv:UnspecifiedMatching +OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:19940 semapv:UnspecifiedMatching +OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:AQP11 semapv:UnspecifiedMatching OMIM:609914 AQP11 skos:exactMatch ncbigene:282679 semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch UMLS:C1538310 semapv:UnspecifiedMatching -OMIM:609916 AZI2 skos:exactMatch hgnc:AZI2 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:24002 semapv:UnspecifiedMatching +OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:AZI2 semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch ncbigene:64343 semapv:UnspecifiedMatching -OMIM:609917 PRNPIP skos:exactMatch hgnc:ERI3 semapv:UnspecifiedMatching +OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:17276 semapv:UnspecifiedMatching +OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:ERI3 semapv:UnspecifiedMatching OMIM:609917 PRNPIP skos:exactMatch ncbigene:79033 semapv:UnspecifiedMatching -OMIM:609920 CDH22 skos:exactMatch hgnc:CDH22 semapv:UnspecifiedMatching +OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:13251 semapv:UnspecifiedMatching +OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:CDH22 semapv:UnspecifiedMatching OMIM:609920 CDH22 skos:exactMatch ncbigene:64405 semapv:UnspecifiedMatching -OMIM:609921 LRP10 skos:exactMatch hgnc:LRP10 semapv:UnspecifiedMatching +OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:14553 semapv:UnspecifiedMatching +OMIM:609921 LRP10 skos:exactMatch hgnc.symbol:LRP10 semapv:UnspecifiedMatching OMIM:609921 LRP10 skos:exactMatch ncbigene:26020 semapv:UnspecifiedMatching -OMIM:609922 EHBP1 skos:exactMatch hgnc:EHBP1 semapv:UnspecifiedMatching +OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:29144 semapv:UnspecifiedMatching +OMIM:609922 EHBP1 skos:exactMatch hgnc.symbol:EHBP1 semapv:UnspecifiedMatching OMIM:609922 EHBP1 skos:exactMatch ncbigene:23301 semapv:UnspecifiedMatching -OMIM:609925 DPEP2 skos:exactMatch hgnc:DPEP2 semapv:UnspecifiedMatching +OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:23028 semapv:UnspecifiedMatching +OMIM:609925 DPEP2 skos:exactMatch hgnc.symbol:DPEP2 semapv:UnspecifiedMatching OMIM:609925 DPEP2 skos:exactMatch ncbigene:64174 semapv:UnspecifiedMatching -OMIM:609926 DPEP3 skos:exactMatch hgnc:DPEP3 semapv:UnspecifiedMatching +OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:23029 semapv:UnspecifiedMatching +OMIM:609926 DPEP3 skos:exactMatch hgnc.symbol:DPEP3 semapv:UnspecifiedMatching OMIM:609926 DPEP3 skos:exactMatch ncbigene:64180 semapv:UnspecifiedMatching -OMIM:609927 VPS37A skos:exactMatch hgnc:VPS37A semapv:UnspecifiedMatching +OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:24928 semapv:UnspecifiedMatching +OMIM:609927 VPS37A skos:exactMatch hgnc.symbol:VPS37A semapv:UnspecifiedMatching OMIM:609927 VPS37A skos:exactMatch ncbigene:137492 semapv:UnspecifiedMatching -OMIM:609928 MYH7B skos:exactMatch hgnc:MYH7B semapv:UnspecifiedMatching +OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:15906 semapv:UnspecifiedMatching +OMIM:609928 MYH7B skos:exactMatch hgnc.symbol:MYH7B semapv:UnspecifiedMatching OMIM:609928 MYH7B skos:exactMatch ncbigene:57644 semapv:UnspecifiedMatching -OMIM:609929 MYH15 skos:exactMatch hgnc:MYH15 semapv:UnspecifiedMatching +OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:31073 semapv:UnspecifiedMatching +OMIM:609929 MYH15 skos:exactMatch hgnc.symbol:MYH15 semapv:UnspecifiedMatching OMIM:609929 MYH15 skos:exactMatch ncbigene:22989 semapv:UnspecifiedMatching -OMIM:609930 MYL6B skos:exactMatch hgnc:MYL6B semapv:UnspecifiedMatching +OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:29823 semapv:UnspecifiedMatching +OMIM:609930 MYL6B skos:exactMatch hgnc.symbol:MYL6B semapv:UnspecifiedMatching OMIM:609930 MYL6B skos:exactMatch ncbigene:140465 semapv:UnspecifiedMatching -OMIM:609931 MYL6 skos:exactMatch hgnc:MYL6 semapv:UnspecifiedMatching +OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:7587 semapv:UnspecifiedMatching +OMIM:609931 MYL6 skos:exactMatch hgnc.symbol:MYL6 semapv:UnspecifiedMatching OMIM:609931 MYL6 skos:exactMatch ncbigene:4637 semapv:UnspecifiedMatching -OMIM:609932 SPACA4 skos:exactMatch hgnc:SPACA4 semapv:UnspecifiedMatching +OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:16441 semapv:UnspecifiedMatching +OMIM:609932 SPACA4 skos:exactMatch hgnc.symbol:SPACA4 semapv:UnspecifiedMatching OMIM:609932 SPACA4 skos:exactMatch ncbigene:171169 semapv:UnspecifiedMatching -OMIM:609933 REG3G skos:exactMatch hgnc:REG3G semapv:UnspecifiedMatching +OMIM:609933 REG3G skos:exactMatch hgnc.symbol:29595 semapv:UnspecifiedMatching +OMIM:609933 REG3G skos:exactMatch hgnc.symbol:REG3G semapv:UnspecifiedMatching OMIM:609933 REG3G skos:exactMatch ncbigene:130120 semapv:UnspecifiedMatching -OMIM:609934 EBF2 skos:exactMatch hgnc:EBF2 semapv:UnspecifiedMatching +OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:19090 semapv:UnspecifiedMatching +OMIM:609934 EBF2 skos:exactMatch hgnc.symbol:EBF2 semapv:UnspecifiedMatching OMIM:609934 EBF2 skos:exactMatch ncbigene:64641 semapv:UnspecifiedMatching -OMIM:609935 EBF4 skos:exactMatch hgnc:EBF4 semapv:UnspecifiedMatching +OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:29278 semapv:UnspecifiedMatching +OMIM:609935 EBF4 skos:exactMatch hgnc.symbol:EBF4 semapv:UnspecifiedMatching OMIM:609935 EBF4 skos:exactMatch ncbigene:57593 semapv:UnspecifiedMatching -OMIM:609936 SPIN1 skos:exactMatch hgnc:SPIN1 semapv:UnspecifiedMatching +OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:11243 semapv:UnspecifiedMatching +OMIM:609936 SPIN1 skos:exactMatch hgnc.symbol:SPIN1 semapv:UnspecifiedMatching OMIM:609936 SPIN1 skos:exactMatch ncbigene:10927 semapv:UnspecifiedMatching -OMIM:609937 CDCA7 skos:exactMatch hgnc:CDCA7 semapv:UnspecifiedMatching +OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:14628 semapv:UnspecifiedMatching +OMIM:609937 CDCA7 skos:exactMatch hgnc.symbol:CDCA7 semapv:UnspecifiedMatching OMIM:609937 CDCA7 skos:exactMatch ncbigene:83879 semapv:UnspecifiedMatching -OMIM:609938 CADM2 skos:exactMatch hgnc:CADM2 semapv:UnspecifiedMatching +OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:29849 semapv:UnspecifiedMatching +OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:CADM2 semapv:UnspecifiedMatching OMIM:609938 CADM2 skos:exactMatch ncbigene:253559 semapv:UnspecifiedMatching +OMIM:609942 noonan syndrome 3 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:609942 noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching -OMIM:609942 noonan syndrome 3 skos:exactMatch orphanet.ordo:648 semapv:UnspecifiedMatching -OMIM:609947 PRORP skos:exactMatch hgnc:PRORP semapv:UnspecifiedMatching +OMIM:609947 PRORP skos:exactMatch hgnc.symbol:19958 semapv:UnspecifiedMatching +OMIM:609947 PRORP skos:exactMatch hgnc.symbol:PRORP semapv:UnspecifiedMatching OMIM:609947 PRORP skos:exactMatch ncbigene:9692 semapv:UnspecifiedMatching -OMIM:609948 RNF216 skos:exactMatch hgnc:RNF216 semapv:UnspecifiedMatching +OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:21698 semapv:UnspecifiedMatching +OMIM:609948 RNF216 skos:exactMatch hgnc.symbol:RNF216 semapv:UnspecifiedMatching OMIM:609948 RNF216 skos:exactMatch ncbigene:54476 semapv:UnspecifiedMatching -OMIM:609949 C5AR2 skos:exactMatch hgnc:C5AR2 semapv:UnspecifiedMatching +OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:4527 semapv:UnspecifiedMatching +OMIM:609949 C5AR2 skos:exactMatch hgnc.symbol:C5AR2 semapv:UnspecifiedMatching OMIM:609949 C5AR2 skos:exactMatch ncbigene:27202 semapv:UnspecifiedMatching OMIM:609950 RAVER1 skos:exactMatch UMLS:C1826769 semapv:UnspecifiedMatching -OMIM:609950 RAVER1 skos:exactMatch hgnc:RAVER1 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:30296 semapv:UnspecifiedMatching +OMIM:609950 RAVER1 skos:exactMatch hgnc.symbol:RAVER1 semapv:UnspecifiedMatching OMIM:609950 RAVER1 skos:exactMatch ncbigene:125950 semapv:UnspecifiedMatching -OMIM:609951 ZNF384 skos:exactMatch hgnc:ZNF384 semapv:UnspecifiedMatching +OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:11955 semapv:UnspecifiedMatching +OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:ZNF384 semapv:UnspecifiedMatching OMIM:609951 ZNF384 skos:exactMatch ncbigene:171017 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch UMLS:C1826770 semapv:UnspecifiedMatching -OMIM:609953 RAVER2 skos:exactMatch hgnc:RAVER2 semapv:UnspecifiedMatching +OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:25577 semapv:UnspecifiedMatching +OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:RAVER2 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch ncbigene:55225 semapv:UnspecifiedMatching -OMIM:609956 RAB37 skos:exactMatch hgnc:RAB37 semapv:UnspecifiedMatching +OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:30268 semapv:UnspecifiedMatching +OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:RAB37 semapv:UnspecifiedMatching OMIM:609956 RAB37 skos:exactMatch ncbigene:326624 semapv:UnspecifiedMatching -OMIM:609957 PPM1J skos:exactMatch hgnc:PPM1J semapv:UnspecifiedMatching +OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:20785 semapv:UnspecifiedMatching +OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:PPM1J semapv:UnspecifiedMatching OMIM:609957 PPM1J skos:exactMatch ncbigene:333926 semapv:UnspecifiedMatching -OMIM:609959 MYADM skos:exactMatch hgnc:MYADM semapv:UnspecifiedMatching +OMIM:609959 MYADM skos:exactMatch hgnc.symbol:7544 semapv:UnspecifiedMatching +OMIM:609959 MYADM skos:exactMatch hgnc.symbol:MYADM semapv:UnspecifiedMatching OMIM:609959 MYADM skos:exactMatch ncbigene:91663 semapv:UnspecifiedMatching OMIM:609960 PUM3 skos:exactMatch UMLS:C1428887 semapv:UnspecifiedMatching -OMIM:609960 PUM3 skos:exactMatch hgnc:PUM3 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:29676 semapv:UnspecifiedMatching +OMIM:609960 PUM3 skos:exactMatch hgnc.symbol:PUM3 semapv:UnspecifiedMatching OMIM:609960 PUM3 skos:exactMatch ncbigene:9933 semapv:UnspecifiedMatching OMIM:609961 HMHB1 skos:exactMatch UMLS:C1825517 semapv:UnspecifiedMatching -OMIM:609961 HMHB1 skos:exactMatch hgnc:HMHB1 semapv:UnspecifiedMatching +OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:29677 semapv:UnspecifiedMatching +OMIM:609961 HMHB1 skos:exactMatch hgnc.symbol:HMHB1 semapv:UnspecifiedMatching OMIM:609961 HMHB1 skos:exactMatch ncbigene:57824 semapv:UnspecifiedMatching -OMIM:609962 CLEC4E skos:exactMatch hgnc:CLEC4E semapv:UnspecifiedMatching +OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:14555 semapv:UnspecifiedMatching +OMIM:609962 CLEC4E skos:exactMatch hgnc.symbol:CLEC4E semapv:UnspecifiedMatching OMIM:609962 CLEC4E skos:exactMatch ncbigene:26253 semapv:UnspecifiedMatching -OMIM:609963 CHSY3 skos:exactMatch hgnc:CHSY3 semapv:UnspecifiedMatching +OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:24293 semapv:UnspecifiedMatching +OMIM:609963 CHSY3 skos:exactMatch hgnc.symbol:CHSY3 semapv:UnspecifiedMatching OMIM:609963 CHSY3 skos:exactMatch ncbigene:337876 semapv:UnspecifiedMatching -OMIM:609964 CLEC4D skos:exactMatch hgnc:CLEC4D semapv:UnspecifiedMatching +OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:14554 semapv:UnspecifiedMatching +OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:CLEC4D semapv:UnspecifiedMatching OMIM:609964 CLEC4D skos:exactMatch ncbigene:338339 semapv:UnspecifiedMatching -OMIM:609966 GGN skos:exactMatch hgnc:GGN semapv:UnspecifiedMatching +OMIM:609966 GGN skos:exactMatch hgnc.symbol:18869 semapv:UnspecifiedMatching +OMIM:609966 GGN skos:exactMatch hgnc.symbol:GGN semapv:UnspecifiedMatching OMIM:609966 GGN skos:exactMatch ncbigene:199720 semapv:UnspecifiedMatching -OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc:NIBAN3 semapv:UnspecifiedMatching +OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:24130 semapv:UnspecifiedMatching +OMIM:609967 b-cell novel protein 1 skos:exactMatch hgnc.symbol:NIBAN3 semapv:UnspecifiedMatching OMIM:609967 b-cell novel protein 1 skos:exactMatch ncbigene:199786 semapv:UnspecifiedMatching -OMIM:609969 suprabasin skos:exactMatch hgnc:SBSN semapv:UnspecifiedMatching +OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:24950 semapv:UnspecifiedMatching +OMIM:609969 suprabasin skos:exactMatch hgnc.symbol:SBSN semapv:UnspecifiedMatching OMIM:609969 suprabasin skos:exactMatch ncbigene:374897 semapv:UnspecifiedMatching OMIM:609970 HES2 skos:exactMatch UMLS:C1539666 semapv:UnspecifiedMatching -OMIM:609970 HES2 skos:exactMatch hgnc:HES2 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch hgnc.symbol:16005 semapv:UnspecifiedMatching +OMIM:609970 HES2 skos:exactMatch hgnc.symbol:HES2 semapv:UnspecifiedMatching OMIM:609970 HES2 skos:exactMatch ncbigene:54626 semapv:UnspecifiedMatching OMIM:609971 HES3 skos:exactMatch UMLS:C1825461 semapv:UnspecifiedMatching -OMIM:609971 HES3 skos:exactMatch hgnc:HES3 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch hgnc.symbol:26226 semapv:UnspecifiedMatching +OMIM:609971 HES3 skos:exactMatch hgnc.symbol:HES3 semapv:UnspecifiedMatching OMIM:609971 HES3 skos:exactMatch ncbigene:390992 semapv:UnspecifiedMatching -OMIM:609972 ACOT2 skos:exactMatch hgnc:ACOT2 semapv:UnspecifiedMatching +OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:18431 semapv:UnspecifiedMatching +OMIM:609972 ACOT2 skos:exactMatch hgnc.symbol:ACOT2 semapv:UnspecifiedMatching OMIM:609972 ACOT2 skos:exactMatch ncbigene:10965 semapv:UnspecifiedMatching -OMIM:609973 HCN3 skos:exactMatch hgnc:HCN3 semapv:UnspecifiedMatching +OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:19183 semapv:UnspecifiedMatching +OMIM:609973 HCN3 skos:exactMatch hgnc.symbol:HCN3 semapv:UnspecifiedMatching OMIM:609973 HCN3 skos:exactMatch ncbigene:57657 semapv:UnspecifiedMatching -OMIM:609974 CDH9 skos:exactMatch hgnc:CDH9 semapv:UnspecifiedMatching +OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:1768 semapv:UnspecifiedMatching +OMIM:609974 CDH9 skos:exactMatch hgnc.symbol:CDH9 semapv:UnspecifiedMatching OMIM:609974 CDH9 skos:exactMatch ncbigene:1007 semapv:UnspecifiedMatching -OMIM:609976 HIF3A skos:exactMatch hgnc:HIF3A semapv:UnspecifiedMatching +OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:15825 semapv:UnspecifiedMatching +OMIM:609976 HIF3A skos:exactMatch hgnc.symbol:HIF3A semapv:UnspecifiedMatching OMIM:609976 HIF3A skos:exactMatch ncbigene:64344 semapv:UnspecifiedMatching -OMIM:609977 CDCA8 skos:exactMatch hgnc:CDCA8 semapv:UnspecifiedMatching +OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:14629 semapv:UnspecifiedMatching +OMIM:609977 CDCA8 skos:exactMatch hgnc.symbol:CDCA8 semapv:UnspecifiedMatching OMIM:609977 CDCA8 skos:exactMatch ncbigene:55143 semapv:UnspecifiedMatching -OMIM:609978 CADPS2 skos:exactMatch hgnc:CADPS2 semapv:UnspecifiedMatching +OMIM:609978 CADPS2 skos:exactMatch hgnc.symbol:16018 semapv:UnspecifiedMatching +OMIM:609978 CADPS2 skos:exactMatch hgnc.symbol:CADPS2 semapv:UnspecifiedMatching OMIM:609978 CADPS2 skos:exactMatch ncbigene:93664 semapv:UnspecifiedMatching -OMIM:609979 VGLL2 skos:exactMatch hgnc:VGLL2 semapv:UnspecifiedMatching +OMIM:609979 VGLL2 skos:exactMatch hgnc.symbol:20232 semapv:UnspecifiedMatching +OMIM:609979 VGLL2 skos:exactMatch hgnc.symbol:VGLL2 semapv:UnspecifiedMatching OMIM:609979 VGLL2 skos:exactMatch ncbigene:245806 semapv:UnspecifiedMatching -OMIM:609980 VGLL3 skos:exactMatch hgnc:VGLL3 semapv:UnspecifiedMatching +OMIM:609980 VGLL3 skos:exactMatch hgnc.symbol:24327 semapv:UnspecifiedMatching +OMIM:609980 VGLL3 skos:exactMatch hgnc.symbol:VGLL3 semapv:UnspecifiedMatching OMIM:609980 VGLL3 skos:exactMatch ncbigene:389136 semapv:UnspecifiedMatching -OMIM:609982 VPS4A skos:exactMatch hgnc:VPS4A semapv:UnspecifiedMatching +OMIM:609982 VPS4A skos:exactMatch hgnc.symbol:13488 semapv:UnspecifiedMatching +OMIM:609982 VPS4A skos:exactMatch hgnc.symbol:VPS4A semapv:UnspecifiedMatching OMIM:609982 VPS4A skos:exactMatch ncbigene:27183 semapv:UnspecifiedMatching -OMIM:609983 VPS4B skos:exactMatch hgnc:VPS4B semapv:UnspecifiedMatching +OMIM:609983 VPS4B skos:exactMatch hgnc.symbol:10895 semapv:UnspecifiedMatching +OMIM:609983 VPS4B skos:exactMatch hgnc.symbol:VPS4B semapv:UnspecifiedMatching OMIM:609983 VPS4B skos:exactMatch ncbigene:9525 semapv:UnspecifiedMatching OMIM:609984 ZWILCH skos:exactMatch UMLS:C1824085 semapv:UnspecifiedMatching -OMIM:609984 ZWILCH skos:exactMatch hgnc:ZWILCH semapv:UnspecifiedMatching +OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:25468 semapv:UnspecifiedMatching +OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:ZWILCH semapv:UnspecifiedMatching OMIM:609984 ZWILCH skos:exactMatch ncbigene:55055 semapv:UnspecifiedMatching -OMIM:609986 CARD6 skos:exactMatch hgnc:CARD6 semapv:UnspecifiedMatching +OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:16394 semapv:UnspecifiedMatching +OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:CARD6 semapv:UnspecifiedMatching OMIM:609986 CARD6 skos:exactMatch ncbigene:84674 semapv:UnspecifiedMatching -OMIM:609987 STRA8 skos:exactMatch hgnc:STRA8 semapv:UnspecifiedMatching +OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:30653 semapv:UnspecifiedMatching +OMIM:609987 STRA8 skos:exactMatch hgnc.symbol:STRA8 semapv:UnspecifiedMatching OMIM:609987 STRA8 skos:exactMatch ncbigene:346673 semapv:UnspecifiedMatching -OMIM:609988 PPA2 skos:exactMatch hgnc:PPA2 semapv:UnspecifiedMatching +OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:28883 semapv:UnspecifiedMatching +OMIM:609988 PPA2 skos:exactMatch hgnc.symbol:PPA2 semapv:UnspecifiedMatching OMIM:609988 PPA2 skos:exactMatch ncbigene:27068 semapv:UnspecifiedMatching -OMIM:609991 FNDC1 skos:exactMatch hgnc:FNDC1 semapv:UnspecifiedMatching +OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:21184 semapv:UnspecifiedMatching +OMIM:609991 FNDC1 skos:exactMatch hgnc.symbol:FNDC1 semapv:UnspecifiedMatching OMIM:609991 FNDC1 skos:exactMatch ncbigene:84624 semapv:UnspecifiedMatching OMIM:609992 POP5 skos:exactMatch UMLS:C1425038 semapv:UnspecifiedMatching -OMIM:609992 POP5 skos:exactMatch hgnc:POP5 semapv:UnspecifiedMatching +OMIM:609992 POP5 skos:exactMatch hgnc.symbol:17689 semapv:UnspecifiedMatching +OMIM:609992 POP5 skos:exactMatch hgnc.symbol:POP5 semapv:UnspecifiedMatching OMIM:609992 POP5 skos:exactMatch ncbigene:51367 semapv:UnspecifiedMatching -OMIM:609996 COL28A1 skos:exactMatch hgnc:COL28A1 semapv:UnspecifiedMatching +OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:22442 semapv:UnspecifiedMatching +OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:COL28A1 semapv:UnspecifiedMatching OMIM:609996 COL28A1 skos:exactMatch ncbigene:340267 semapv:UnspecifiedMatching -OMIM:609997 HINT2 skos:exactMatch hgnc:HINT2 semapv:UnspecifiedMatching +OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:18344 semapv:UnspecifiedMatching +OMIM:609997 HINT2 skos:exactMatch hgnc.symbol:HINT2 semapv:UnspecifiedMatching OMIM:609997 HINT2 skos:exactMatch ncbigene:84681 semapv:UnspecifiedMatching -OMIM:609998 HINT3 skos:exactMatch hgnc:HINT3 semapv:UnspecifiedMatching +OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:18468 semapv:UnspecifiedMatching +OMIM:609998 HINT3 skos:exactMatch hgnc.symbol:HINT3 semapv:UnspecifiedMatching OMIM:609998 HINT3 skos:exactMatch ncbigene:135114 semapv:UnspecifiedMatching -OMIM:609999 SYNDIG1L skos:exactMatch hgnc:SYNDIG1L semapv:UnspecifiedMatching +OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:32388 semapv:UnspecifiedMatching +OMIM:609999 SYNDIG1L skos:exactMatch hgnc.symbol:SYNDIG1L semapv:UnspecifiedMatching OMIM:609999 SYNDIG1L skos:exactMatch ncbigene:646658 semapv:UnspecifiedMatching -OMIM:610000 CEP55 skos:exactMatch hgnc:CEP55 semapv:UnspecifiedMatching +OMIM:610000 CEP55 skos:exactMatch hgnc.symbol:1161 semapv:UnspecifiedMatching +OMIM:610000 CEP55 skos:exactMatch hgnc.symbol:CEP55 semapv:UnspecifiedMatching OMIM:610000 CEP55 skos:exactMatch ncbigene:55165 semapv:UnspecifiedMatching -OMIM:610002 COL21A1 skos:exactMatch hgnc:COL21A1 semapv:UnspecifiedMatching +OMIM:610002 COL21A1 skos:exactMatch hgnc.symbol:17025 semapv:UnspecifiedMatching +OMIM:610002 COL21A1 skos:exactMatch hgnc.symbol:COL21A1 semapv:UnspecifiedMatching OMIM:610002 COL21A1 skos:exactMatch ncbigene:81578 semapv:UnspecifiedMatching +OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch Orphanet:1947 semapv:UnspecifiedMatching OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch UMLS:C1864923 semapv:UnspecifiedMatching -OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant skos:exactMatch orphanet.ordo:1947 semapv:UnspecifiedMatching -OMIM:610004 COL25A1 skos:exactMatch hgnc:COL25A1 semapv:UnspecifiedMatching +OMIM:610004 COL25A1 skos:exactMatch hgnc.symbol:18603 semapv:UnspecifiedMatching +OMIM:610004 COL25A1 skos:exactMatch hgnc.symbol:COL25A1 semapv:UnspecifiedMatching OMIM:610004 COL25A1 skos:exactMatch ncbigene:84570 semapv:UnspecifiedMatching -OMIM:610005 TNIK skos:exactMatch hgnc:TNIK semapv:UnspecifiedMatching +OMIM:610005 TNIK skos:exactMatch hgnc.symbol:30765 semapv:UnspecifiedMatching +OMIM:610005 TNIK skos:exactMatch hgnc.symbol:TNIK semapv:UnspecifiedMatching OMIM:610005 TNIK skos:exactMatch ncbigene:23043 semapv:UnspecifiedMatching +OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch Orphanet:79157 semapv:UnspecifiedMatching OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch UMLS:C1864912 semapv:UnspecifiedMatching -OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency skos:exactMatch orphanet.ordo:79157 semapv:UnspecifiedMatching -OMIM:610007 LMBR1L skos:exactMatch hgnc:LMBR1L semapv:UnspecifiedMatching +OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:18268 semapv:UnspecifiedMatching +OMIM:610007 LMBR1L skos:exactMatch hgnc.symbol:LMBR1L semapv:UnspecifiedMatching OMIM:610007 LMBR1L skos:exactMatch ncbigene:55716 semapv:UnspecifiedMatching -OMIM:610008 ARSG skos:exactMatch hgnc:ARSG semapv:UnspecifiedMatching +OMIM:610008 ARSG skos:exactMatch hgnc.symbol:24102 semapv:UnspecifiedMatching +OMIM:610008 ARSG skos:exactMatch hgnc.symbol:ARSG semapv:UnspecifiedMatching OMIM:610008 ARSG skos:exactMatch ncbigene:22901 semapv:UnspecifiedMatching -OMIM:610009 ARSI skos:exactMatch hgnc:ARSI semapv:UnspecifiedMatching +OMIM:610009 ARSI skos:exactMatch hgnc.symbol:32521 semapv:UnspecifiedMatching +OMIM:610009 ARSI skos:exactMatch hgnc.symbol:ARSI semapv:UnspecifiedMatching OMIM:610009 ARSI skos:exactMatch ncbigene:340075 semapv:UnspecifiedMatching -OMIM:610010 ARSJ skos:exactMatch hgnc:ARSJ semapv:UnspecifiedMatching +OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:26286 semapv:UnspecifiedMatching +OMIM:610010 ARSJ skos:exactMatch hgnc.symbol:ARSJ semapv:UnspecifiedMatching OMIM:610010 ARSJ skos:exactMatch ncbigene:79642 semapv:UnspecifiedMatching -OMIM:610011 ARSK skos:exactMatch hgnc:ARSK semapv:UnspecifiedMatching +OMIM:610011 ARSK skos:exactMatch hgnc.symbol:25239 semapv:UnspecifiedMatching +OMIM:610011 ARSK skos:exactMatch hgnc.symbol:ARSK semapv:UnspecifiedMatching OMIM:610011 ARSK skos:exactMatch ncbigene:153642 semapv:UnspecifiedMatching -OMIM:610012 SULF1 skos:exactMatch hgnc:SULF1 semapv:UnspecifiedMatching +OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:20391 semapv:UnspecifiedMatching +OMIM:610012 SULF1 skos:exactMatch hgnc.symbol:SULF1 semapv:UnspecifiedMatching OMIM:610012 SULF1 skos:exactMatch ncbigene:23213 semapv:UnspecifiedMatching -OMIM:610013 SULF2 skos:exactMatch hgnc:SULF2 semapv:UnspecifiedMatching +OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:20392 semapv:UnspecifiedMatching +OMIM:610013 SULF2 skos:exactMatch hgnc.symbol:SULF2 semapv:UnspecifiedMatching OMIM:610013 SULF2 skos:exactMatch ncbigene:55959 semapv:UnspecifiedMatching -OMIM:610014 TM2D3 skos:exactMatch hgnc:TM2D3 semapv:UnspecifiedMatching +OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:24128 semapv:UnspecifiedMatching +OMIM:610014 TM2D3 skos:exactMatch hgnc.symbol:TM2D3 semapv:UnspecifiedMatching OMIM:610014 TM2D3 skos:exactMatch ncbigene:80213 semapv:UnspecifiedMatching -OMIM:610016 MIR132 skos:exactMatch hgnc:MIR132 semapv:UnspecifiedMatching +OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:31516 semapv:UnspecifiedMatching +OMIM:610016 MIR132 skos:exactMatch hgnc.symbol:MIR132 semapv:UnspecifiedMatching OMIM:610016 MIR132 skos:exactMatch ncbigene:406921 semapv:UnspecifiedMatching +OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch UMLS:C1832708 semapv:UnspecifiedMatching -OMIM:610017 multiple synostoses syndrome 2 skos:exactMatch orphanet.ordo:3237 semapv:UnspecifiedMatching -OMIM:610018 ARHGEF40 skos:exactMatch hgnc:ARHGEF40 semapv:UnspecifiedMatching +OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:25516 semapv:UnspecifiedMatching +OMIM:610018 ARHGEF40 skos:exactMatch hgnc.symbol:ARHGEF40 semapv:UnspecifiedMatching OMIM:610018 ARHGEF40 skos:exactMatch ncbigene:55701 semapv:UnspecifiedMatching -OMIM:610020 TBC1D10A skos:exactMatch hgnc:TBC1D10A semapv:UnspecifiedMatching +OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:23609 semapv:UnspecifiedMatching +OMIM:610020 TBC1D10A skos:exactMatch hgnc.symbol:TBC1D10A semapv:UnspecifiedMatching OMIM:610020 TBC1D10A skos:exactMatch ncbigene:83874 semapv:UnspecifiedMatching +OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch Orphanet:165991 semapv:UnspecifiedMatching OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch UMLS:C1864902 semapv:UnspecifiedMatching -OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 skos:exactMatch orphanet.ordo:165991 semapv:UnspecifiedMatching -OMIM:610022 MYO5C skos:exactMatch hgnc:MYO5C semapv:UnspecifiedMatching +OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:7604 semapv:UnspecifiedMatching +OMIM:610022 MYO5C skos:exactMatch hgnc.symbol:MYO5C semapv:UnspecifiedMatching OMIM:610022 MYO5C skos:exactMatch ncbigene:55930 semapv:UnspecifiedMatching -OMIM:610025 COL24A1 skos:exactMatch hgnc:COL24A1 semapv:UnspecifiedMatching +OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:20821 semapv:UnspecifiedMatching +OMIM:610025 COL24A1 skos:exactMatch hgnc.symbol:COL24A1 semapv:UnspecifiedMatching OMIM:610025 COL24A1 skos:exactMatch ncbigene:255631 semapv:UnspecifiedMatching -OMIM:610026 COL22A1 skos:exactMatch hgnc:COL22A1 semapv:UnspecifiedMatching +OMIM:610026 COL22A1 skos:exactMatch hgnc.symbol:22989 semapv:UnspecifiedMatching +OMIM:610026 COL22A1 skos:exactMatch hgnc.symbol:COL22A1 semapv:UnspecifiedMatching OMIM:610026 COL22A1 skos:exactMatch ncbigene:169044 semapv:UnspecifiedMatching -OMIM:610027 VPS26B skos:exactMatch hgnc:VPS26B semapv:UnspecifiedMatching +OMIM:610027 VPS26B skos:exactMatch hgnc.symbol:28119 semapv:UnspecifiedMatching +OMIM:610027 VPS26B skos:exactMatch hgnc.symbol:VPS26B semapv:UnspecifiedMatching OMIM:610027 VPS26B skos:exactMatch ncbigene:112936 semapv:UnspecifiedMatching -OMIM:610028 PARP14 skos:exactMatch hgnc:PARP14 semapv:UnspecifiedMatching +OMIM:610028 PARP14 skos:exactMatch hgnc.symbol:29232 semapv:UnspecifiedMatching +OMIM:610028 PARP14 skos:exactMatch hgnc.symbol:PARP14 semapv:UnspecifiedMatching OMIM:610028 PARP14 skos:exactMatch ncbigene:54625 semapv:UnspecifiedMatching -OMIM:610029 VDAC3 skos:exactMatch hgnc:VDAC3 semapv:UnspecifiedMatching +OMIM:610029 VDAC3 skos:exactMatch hgnc.symbol:12674 semapv:UnspecifiedMatching +OMIM:610029 VDAC3 skos:exactMatch hgnc.symbol:VDAC3 semapv:UnspecifiedMatching OMIM:610029 VDAC3 skos:exactMatch ncbigene:7419 semapv:UnspecifiedMatching -OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc:VDAC1P4 semapv:UnspecifiedMatching -OMIM:610032 TNPO3 skos:exactMatch hgnc:TNPO3 semapv:UnspecifiedMatching +OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc.symbol:12675 semapv:UnspecifiedMatching +OMIM:610030 voltage-dependent anion channel 1 pseudogene 4 skos:exactMatch hgnc.symbol:VDAC1P4 semapv:UnspecifiedMatching +OMIM:610032 TNPO3 skos:exactMatch hgnc.symbol:17103 semapv:UnspecifiedMatching +OMIM:610032 TNPO3 skos:exactMatch hgnc.symbol:TNPO3 semapv:UnspecifiedMatching OMIM:610032 TNPO3 skos:exactMatch ncbigene:23534 semapv:UnspecifiedMatching -OMIM:610033 PEF1 skos:exactMatch hgnc:PEF1 semapv:UnspecifiedMatching +OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:30009 semapv:UnspecifiedMatching +OMIM:610033 PEF1 skos:exactMatch hgnc.symbol:PEF1 semapv:UnspecifiedMatching OMIM:610033 PEF1 skos:exactMatch ncbigene:553115 semapv:UnspecifiedMatching OMIM:610034 VPS33A skos:exactMatch UMLS:C1425364 semapv:UnspecifiedMatching OMIM:610034 VPS33A skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching -OMIM:610034 VPS33A skos:exactMatch hgnc:VPS33A semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:18179 semapv:UnspecifiedMatching +OMIM:610034 VPS33A skos:exactMatch hgnc.symbol:VPS33A semapv:UnspecifiedMatching OMIM:610034 VPS33A skos:exactMatch ncbigene:65082 semapv:UnspecifiedMatching -OMIM:610035 VPS45 skos:exactMatch hgnc:VPS45 semapv:UnspecifiedMatching +OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:14579 semapv:UnspecifiedMatching +OMIM:610035 VPS45 skos:exactMatch hgnc.symbol:VPS45 semapv:UnspecifiedMatching OMIM:610035 VPS45 skos:exactMatch ncbigene:11311 semapv:UnspecifiedMatching -OMIM:610036 CLDN19 skos:exactMatch hgnc:CLDN19 semapv:UnspecifiedMatching +OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:2040 semapv:UnspecifiedMatching +OMIM:610036 CLDN19 skos:exactMatch hgnc.symbol:CLDN19 semapv:UnspecifiedMatching OMIM:610036 CLDN19 skos:exactMatch ncbigene:149461 semapv:UnspecifiedMatching -OMIM:610037 VPS37B skos:exactMatch hgnc:VPS37B semapv:UnspecifiedMatching +OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:25754 semapv:UnspecifiedMatching +OMIM:610037 VPS37B skos:exactMatch hgnc.symbol:VPS37B semapv:UnspecifiedMatching OMIM:610037 VPS37B skos:exactMatch ncbigene:79720 semapv:UnspecifiedMatching -OMIM:610038 VPS37C skos:exactMatch hgnc:VPS37C semapv:UnspecifiedMatching +OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:26097 semapv:UnspecifiedMatching +OMIM:610038 VPS37C skos:exactMatch hgnc.symbol:VPS37C semapv:UnspecifiedMatching OMIM:610038 VPS37C skos:exactMatch ncbigene:55048 semapv:UnspecifiedMatching -OMIM:610039 VPS37D skos:exactMatch hgnc:VPS37D semapv:UnspecifiedMatching +OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:18287 semapv:UnspecifiedMatching +OMIM:610039 VPS37D skos:exactMatch hgnc.symbol:VPS37D semapv:UnspecifiedMatching OMIM:610039 VPS37D skos:exactMatch ncbigene:155382 semapv:UnspecifiedMatching -OMIM:610040 MYO3B skos:exactMatch hgnc:MYO3B semapv:UnspecifiedMatching +OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:15576 semapv:UnspecifiedMatching +OMIM:610040 MYO3B skos:exactMatch hgnc.symbol:MYO3B semapv:UnspecifiedMatching OMIM:610040 MYO3B skos:exactMatch ncbigene:140469 semapv:UnspecifiedMatching -OMIM:610041 NDFIP2 skos:exactMatch hgnc:NDFIP2 semapv:UnspecifiedMatching +OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:18537 semapv:UnspecifiedMatching +OMIM:610041 NDFIP2 skos:exactMatch hgnc.symbol:NDFIP2 semapv:UnspecifiedMatching OMIM:610041 NDFIP2 skos:exactMatch ncbigene:54602 semapv:UnspecifiedMatching -OMIM:610043 COL23A1 skos:exactMatch hgnc:COL23A1 semapv:UnspecifiedMatching +OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:22990 semapv:UnspecifiedMatching +OMIM:610043 COL23A1 skos:exactMatch hgnc.symbol:COL23A1 semapv:UnspecifiedMatching OMIM:610043 COL23A1 skos:exactMatch ncbigene:91522 semapv:UnspecifiedMatching OMIM:610044 KCNT2 skos:exactMatch UMLS:C1425837 semapv:UnspecifiedMatching OMIM:610044 KCNT2 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching -OMIM:610044 KCNT2 skos:exactMatch hgnc:KCNT2 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:18866 semapv:UnspecifiedMatching +OMIM:610044 KCNT2 skos:exactMatch hgnc.symbol:KCNT2 semapv:UnspecifiedMatching OMIM:610044 KCNT2 skos:exactMatch ncbigene:343450 semapv:UnspecifiedMatching OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C0268631 semapv:UnspecifiedMatching OMIM:610045 ALDH5A1 skos:exactMatch UMLS:C1412339 semapv:UnspecifiedMatching -OMIM:610045 ALDH5A1 skos:exactMatch hgnc:ALDH5A1 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:408 semapv:UnspecifiedMatching +OMIM:610045 ALDH5A1 skos:exactMatch hgnc.symbol:ALDH5A1 semapv:UnspecifiedMatching OMIM:610045 ALDH5A1 skos:exactMatch ncbigene:7915 semapv:UnspecifiedMatching -OMIM:610046 LVRN skos:exactMatch hgnc:LVRN semapv:UnspecifiedMatching +OMIM:610046 LVRN skos:exactMatch hgnc.symbol:26904 semapv:UnspecifiedMatching +OMIM:610046 LVRN skos:exactMatch hgnc.symbol:LVRN semapv:UnspecifiedMatching OMIM:610046 LVRN skos:exactMatch ncbigene:206338 semapv:UnspecifiedMatching -OMIM:610047 CNPY4 skos:exactMatch hgnc:CNPY4 semapv:UnspecifiedMatching +OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:28631 semapv:UnspecifiedMatching +OMIM:610047 CNPY4 skos:exactMatch hgnc.symbol:CNPY4 semapv:UnspecifiedMatching OMIM:610047 CNPY4 skos:exactMatch ncbigene:245812 semapv:UnspecifiedMatching -OMIM:610049 SARNP skos:exactMatch hgnc:SARNP semapv:UnspecifiedMatching +OMIM:610049 SARNP skos:exactMatch hgnc.symbol:24432 semapv:UnspecifiedMatching +OMIM:610049 SARNP skos:exactMatch hgnc.symbol:SARNP semapv:UnspecifiedMatching OMIM:610049 SARNP skos:exactMatch ncbigene:84324 semapv:UnspecifiedMatching -OMIM:610050 TMPRSS13 skos:exactMatch hgnc:TMPRSS13 semapv:UnspecifiedMatching +OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:29808 semapv:UnspecifiedMatching +OMIM:610050 TMPRSS13 skos:exactMatch hgnc.symbol:TMPRSS13 semapv:UnspecifiedMatching OMIM:610050 TMPRSS13 skos:exactMatch ncbigene:84000 semapv:UnspecifiedMatching OMIM:610051 CHMP4A skos:exactMatch UMLS:C1538457 semapv:UnspecifiedMatching -OMIM:610051 CHMP4A skos:exactMatch hgnc:CHMP4A semapv:UnspecifiedMatching +OMIM:610051 CHMP4A skos:exactMatch hgnc.symbol:20274 semapv:UnspecifiedMatching +OMIM:610051 CHMP4A skos:exactMatch hgnc.symbol:CHMP4A semapv:UnspecifiedMatching OMIM:610051 CHMP4A skos:exactMatch ncbigene:29082 semapv:UnspecifiedMatching -OMIM:610052 CHMP3 skos:exactMatch hgnc:CHMP3 semapv:UnspecifiedMatching +OMIM:610052 CHMP3 skos:exactMatch hgnc.symbol:29865 semapv:UnspecifiedMatching +OMIM:610052 CHMP3 skos:exactMatch hgnc.symbol:CHMP3 semapv:UnspecifiedMatching OMIM:610052 CHMP3 skos:exactMatch ncbigene:51652 semapv:UnspecifiedMatching -OMIM:610053 TUBGCP6 skos:exactMatch hgnc:TUBGCP6 semapv:UnspecifiedMatching +OMIM:610053 TUBGCP6 skos:exactMatch hgnc.symbol:18127 semapv:UnspecifiedMatching +OMIM:610053 TUBGCP6 skos:exactMatch hgnc.symbol:TUBGCP6 semapv:UnspecifiedMatching OMIM:610053 TUBGCP6 skos:exactMatch ncbigene:85378 semapv:UnspecifiedMatching -OMIM:610054 MACROH2A1 skos:exactMatch hgnc:MACROH2A1 semapv:UnspecifiedMatching +OMIM:610054 MACROH2A1 skos:exactMatch hgnc.symbol:4740 semapv:UnspecifiedMatching +OMIM:610054 MACROH2A1 skos:exactMatch hgnc.symbol:MACROH2A1 semapv:UnspecifiedMatching OMIM:610054 MACROH2A1 skos:exactMatch ncbigene:9555 semapv:UnspecifiedMatching -OMIM:610055 CC2D1A skos:exactMatch hgnc:CC2D1A semapv:UnspecifiedMatching +OMIM:610055 CC2D1A skos:exactMatch hgnc.symbol:30237 semapv:UnspecifiedMatching +OMIM:610055 CC2D1A skos:exactMatch hgnc.symbol:CC2D1A semapv:UnspecifiedMatching OMIM:610055 CC2D1A skos:exactMatch ncbigene:54862 semapv:UnspecifiedMatching -OMIM:610056 SPAG7 skos:exactMatch hgnc:SPAG7 semapv:UnspecifiedMatching +OMIM:610056 SPAG7 skos:exactMatch hgnc.symbol:11216 semapv:UnspecifiedMatching +OMIM:610056 SPAG7 skos:exactMatch hgnc.symbol:SPAG7 semapv:UnspecifiedMatching OMIM:610056 SPAG7 skos:exactMatch ncbigene:9552 semapv:UnspecifiedMatching -OMIM:610057 TECR skos:exactMatch hgnc:TECR semapv:UnspecifiedMatching +OMIM:610057 TECR skos:exactMatch hgnc.symbol:4551 semapv:UnspecifiedMatching +OMIM:610057 TECR skos:exactMatch hgnc.symbol:TECR semapv:UnspecifiedMatching OMIM:610057 TECR skos:exactMatch ncbigene:9524 semapv:UnspecifiedMatching -OMIM:610058 TBCA skos:exactMatch hgnc:TBCA semapv:UnspecifiedMatching +OMIM:610058 TBCA skos:exactMatch hgnc.symbol:11579 semapv:UnspecifiedMatching +OMIM:610058 TBCA skos:exactMatch hgnc.symbol:TBCA semapv:UnspecifiedMatching OMIM:610058 TBCA skos:exactMatch ncbigene:6902 semapv:UnspecifiedMatching -OMIM:610059 MRPL33 skos:exactMatch hgnc:MRPL33 semapv:UnspecifiedMatching +OMIM:610059 MRPL33 skos:exactMatch hgnc.symbol:14487 semapv:UnspecifiedMatching +OMIM:610059 MRPL33 skos:exactMatch hgnc.symbol:MRPL33 semapv:UnspecifiedMatching OMIM:610059 MRPL33 skos:exactMatch ncbigene:9553 semapv:UnspecifiedMatching -OMIM:610060 POLR1C skos:exactMatch hgnc:POLR1C semapv:UnspecifiedMatching +OMIM:610060 POLR1C skos:exactMatch hgnc.symbol:20194 semapv:UnspecifiedMatching +OMIM:610060 POLR1C skos:exactMatch hgnc.symbol:POLR1C semapv:UnspecifiedMatching OMIM:610060 POLR1C skos:exactMatch ncbigene:9533 semapv:UnspecifiedMatching -OMIM:610061 DNAH7 skos:exactMatch hgnc:DNAH7 semapv:UnspecifiedMatching +OMIM:610061 DNAH7 skos:exactMatch hgnc.symbol:18661 semapv:UnspecifiedMatching +OMIM:610061 DNAH7 skos:exactMatch hgnc.symbol:DNAH7 semapv:UnspecifiedMatching OMIM:610061 DNAH7 skos:exactMatch ncbigene:56171 semapv:UnspecifiedMatching -OMIM:610062 DNAL1 skos:exactMatch hgnc:DNAL1 semapv:UnspecifiedMatching +OMIM:610062 DNAL1 skos:exactMatch hgnc.symbol:23247 semapv:UnspecifiedMatching +OMIM:610062 DNAL1 skos:exactMatch hgnc.symbol:DNAL1 semapv:UnspecifiedMatching OMIM:610062 DNAL1 skos:exactMatch ncbigene:83544 semapv:UnspecifiedMatching -OMIM:610063 DNAH17 skos:exactMatch hgnc:DNAH17 semapv:UnspecifiedMatching +OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:2946 semapv:UnspecifiedMatching +OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:DNAH17 semapv:UnspecifiedMatching OMIM:610063 DNAH17 skos:exactMatch ncbigene:8632 semapv:UnspecifiedMatching -OMIM:610067 MYO18A skos:exactMatch hgnc:MYO18A semapv:UnspecifiedMatching +OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching +OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching OMIM:610067 MYO18A skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching -OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc:SLC26A6 semapv:UnspecifiedMatching +OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc.symbol:14472 semapv:UnspecifiedMatching +OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch hgnc.symbol:SLC26A6 semapv:UnspecifiedMatching OMIM:610068 solute carrier family 26 (anion transporter), member 6: slc26a6 skos:exactMatch ncbigene:65010 semapv:UnspecifiedMatching -OMIM:610070 aster-associated protein skos:exactMatch hgnc:MAP9 semapv:UnspecifiedMatching +OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:26118 semapv:UnspecifiedMatching +OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:MAP9 semapv:UnspecifiedMatching OMIM:610070 aster-associated protein skos:exactMatch ncbigene:79884 semapv:UnspecifiedMatching -OMIM:610072 ERMN skos:exactMatch hgnc:ERMN semapv:UnspecifiedMatching +OMIM:610072 ERMN skos:exactMatch hgnc.symbol:29208 semapv:UnspecifiedMatching +OMIM:610072 ERMN skos:exactMatch hgnc.symbol:ERMN semapv:UnspecifiedMatching OMIM:610072 ERMN skos:exactMatch ncbigene:57471 semapv:UnspecifiedMatching -OMIM:610073 ORMDL1 skos:exactMatch hgnc:ORMDL1 semapv:UnspecifiedMatching +OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:16036 semapv:UnspecifiedMatching +OMIM:610073 ORMDL1 skos:exactMatch hgnc.symbol:ORMDL1 semapv:UnspecifiedMatching OMIM:610073 ORMDL1 skos:exactMatch ncbigene:94101 semapv:UnspecifiedMatching -OMIM:610074 ORMDL2 skos:exactMatch hgnc:ORMDL2 semapv:UnspecifiedMatching +OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:16037 semapv:UnspecifiedMatching +OMIM:610074 ORMDL2 skos:exactMatch hgnc.symbol:ORMDL2 semapv:UnspecifiedMatching OMIM:610074 ORMDL2 skos:exactMatch ncbigene:29095 semapv:UnspecifiedMatching -OMIM:610075 ORMDL3 skos:exactMatch hgnc:ORMDL3 semapv:UnspecifiedMatching +OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:16038 semapv:UnspecifiedMatching +OMIM:610075 ORMDL3 skos:exactMatch hgnc.symbol:ORMDL3 semapv:UnspecifiedMatching OMIM:610075 ORMDL3 skos:exactMatch ncbigene:94103 semapv:UnspecifiedMatching -OMIM:610076 CDK20 skos:exactMatch hgnc:CDK20 semapv:UnspecifiedMatching +OMIM:610076 CDK20 skos:exactMatch hgnc.symbol:21420 semapv:UnspecifiedMatching +OMIM:610076 CDK20 skos:exactMatch hgnc.symbol:CDK20 semapv:UnspecifiedMatching OMIM:610076 CDK20 skos:exactMatch ncbigene:23552 semapv:UnspecifiedMatching -OMIM:610077 RGCC skos:exactMatch hgnc:RGCC semapv:UnspecifiedMatching +OMIM:610077 RGCC skos:exactMatch hgnc.symbol:20369 semapv:UnspecifiedMatching +OMIM:610077 RGCC skos:exactMatch hgnc.symbol:RGCC semapv:UnspecifiedMatching OMIM:610077 RGCC skos:exactMatch ncbigene:28984 semapv:UnspecifiedMatching -OMIM:610078 MORC3 skos:exactMatch hgnc:MORC3 semapv:UnspecifiedMatching +OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:23572 semapv:UnspecifiedMatching +OMIM:610078 MORC3 skos:exactMatch hgnc.symbol:MORC3 semapv:UnspecifiedMatching OMIM:610078 MORC3 skos:exactMatch ncbigene:23515 semapv:UnspecifiedMatching -OMIM:610079 SIAE skos:exactMatch hgnc:SIAE semapv:UnspecifiedMatching +OMIM:610079 SIAE skos:exactMatch hgnc.symbol:18187 semapv:UnspecifiedMatching +OMIM:610079 SIAE skos:exactMatch hgnc.symbol:SIAE semapv:UnspecifiedMatching OMIM:610079 SIAE skos:exactMatch ncbigene:54414 semapv:UnspecifiedMatching -OMIM:610080 TM2D1 skos:exactMatch hgnc:TM2D1 semapv:UnspecifiedMatching +OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:24142 semapv:UnspecifiedMatching +OMIM:610080 TM2D1 skos:exactMatch hgnc.symbol:TM2D1 semapv:UnspecifiedMatching OMIM:610080 TM2D1 skos:exactMatch ncbigene:83941 semapv:UnspecifiedMatching -OMIM:610081 TM2D2 skos:exactMatch hgnc:TM2D2 semapv:UnspecifiedMatching +OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:24127 semapv:UnspecifiedMatching +OMIM:610081 TM2D2 skos:exactMatch hgnc.symbol:TM2D2 semapv:UnspecifiedMatching OMIM:610081 TM2D2 skos:exactMatch ncbigene:83877 semapv:UnspecifiedMatching -OMIM:610082 MYLIP skos:exactMatch hgnc:MYLIP semapv:UnspecifiedMatching +OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:21155 semapv:UnspecifiedMatching +OMIM:610082 MYLIP skos:exactMatch hgnc.symbol:MYLIP semapv:UnspecifiedMatching OMIM:610082 MYLIP skos:exactMatch ncbigene:29116 semapv:UnspecifiedMatching -OMIM:610083 TENM3 skos:exactMatch hgnc:TENM3 semapv:UnspecifiedMatching +OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:29944 semapv:UnspecifiedMatching +OMIM:610083 TENM3 skos:exactMatch hgnc.symbol:TENM3 semapv:UnspecifiedMatching OMIM:610083 TENM3 skos:exactMatch ncbigene:55714 semapv:UnspecifiedMatching -OMIM:610084 TENM4 skos:exactMatch hgnc:TENM4 semapv:UnspecifiedMatching +OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:29945 semapv:UnspecifiedMatching +OMIM:610084 TENM4 skos:exactMatch hgnc.symbol:TENM4 semapv:UnspecifiedMatching OMIM:610084 TENM4 skos:exactMatch ncbigene:26011 semapv:UnspecifiedMatching -OMIM:610085 FAM167A skos:exactMatch hgnc:FAM167A semapv:UnspecifiedMatching +OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:15549 semapv:UnspecifiedMatching +OMIM:610085 FAM167A skos:exactMatch hgnc.symbol:FAM167A semapv:UnspecifiedMatching OMIM:610085 FAM167A skos:exactMatch ncbigene:83648 semapv:UnspecifiedMatching -OMIM:610086 PRMT8 skos:exactMatch hgnc:PRMT8 semapv:UnspecifiedMatching +OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:5188 semapv:UnspecifiedMatching +OMIM:610086 PRMT8 skos:exactMatch hgnc.symbol:PRMT8 semapv:UnspecifiedMatching OMIM:610086 PRMT8 skos:exactMatch ncbigene:56341 semapv:UnspecifiedMatching OMIM:610087 PRMT7 skos:exactMatch UMLS:C1826702 semapv:UnspecifiedMatching OMIM:610087 PRMT7 skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching -OMIM:610087 PRMT7 skos:exactMatch hgnc:PRMT7 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:25557 semapv:UnspecifiedMatching +OMIM:610087 PRMT7 skos:exactMatch hgnc.symbol:PRMT7 semapv:UnspecifiedMatching OMIM:610087 PRMT7 skos:exactMatch ncbigene:54496 semapv:UnspecifiedMatching -OMIM:610088 OLFML3 skos:exactMatch hgnc:OLFML3 semapv:UnspecifiedMatching +OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:24956 semapv:UnspecifiedMatching +OMIM:610088 OLFML3 skos:exactMatch hgnc.symbol:OLFML3 semapv:UnspecifiedMatching OMIM:610088 OLFML3 skos:exactMatch ncbigene:56944 semapv:UnspecifiedMatching -OMIM:610089 RINT1 skos:exactMatch hgnc:RINT1 semapv:UnspecifiedMatching +OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:21876 semapv:UnspecifiedMatching +OMIM:610089 RINT1 skos:exactMatch hgnc.symbol:RINT1 semapv:UnspecifiedMatching OMIM:610089 RINT1 skos:exactMatch ncbigene:60561 semapv:UnspecifiedMatching -OMIM:610091 WSB1 skos:exactMatch hgnc:WSB1 semapv:UnspecifiedMatching +OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:19221 semapv:UnspecifiedMatching +OMIM:610091 WSB1 skos:exactMatch hgnc.symbol:WSB1 semapv:UnspecifiedMatching OMIM:610091 WSB1 skos:exactMatch ncbigene:26118 semapv:UnspecifiedMatching OMIM:610094 DEF6 skos:exactMatch UMLS:C1413972 semapv:UnspecifiedMatching -OMIM:610094 DEF6 skos:exactMatch hgnc:DEF6 semapv:UnspecifiedMatching +OMIM:610094 DEF6 skos:exactMatch hgnc.symbol:2760 semapv:UnspecifiedMatching +OMIM:610094 DEF6 skos:exactMatch hgnc.symbol:DEF6 semapv:UnspecifiedMatching OMIM:610094 DEF6 skos:exactMatch ncbigene:50619 semapv:UnspecifiedMatching -OMIM:610095 KIR3DL3 skos:exactMatch hgnc:KIR3DL3 semapv:UnspecifiedMatching +OMIM:610095 KIR3DL3 skos:exactMatch hgnc.symbol:16312 semapv:UnspecifiedMatching +OMIM:610095 KIR3DL3 skos:exactMatch hgnc.symbol:KIR3DL3 semapv:UnspecifiedMatching OMIM:610095 KIR3DL3 skos:exactMatch ncbigene:115653 semapv:UnspecifiedMatching -OMIM:610096 TIMD4 skos:exactMatch hgnc:TIMD4 semapv:UnspecifiedMatching +OMIM:610096 TIMD4 skos:exactMatch hgnc.symbol:25132 semapv:UnspecifiedMatching +OMIM:610096 TIMD4 skos:exactMatch hgnc.symbol:TIMD4 semapv:UnspecifiedMatching OMIM:610096 TIMD4 skos:exactMatch ncbigene:91937 semapv:UnspecifiedMatching -OMIM:610097 ODF4 skos:exactMatch hgnc:ODF4 semapv:UnspecifiedMatching +OMIM:610097 ODF4 skos:exactMatch hgnc.symbol:19056 semapv:UnspecifiedMatching +OMIM:610097 ODF4 skos:exactMatch hgnc.symbol:ODF4 semapv:UnspecifiedMatching OMIM:610097 ODF4 skos:exactMatch ncbigene:146852 semapv:UnspecifiedMatching -OMIM:610098 MCM9 skos:exactMatch hgnc:MCM9 semapv:UnspecifiedMatching +OMIM:610098 MCM9 skos:exactMatch hgnc.symbol:21484 semapv:UnspecifiedMatching +OMIM:610098 MCM9 skos:exactMatch hgnc.symbol:MCM9 semapv:UnspecifiedMatching OMIM:610098 MCM9 skos:exactMatch ncbigene:254394 semapv:UnspecifiedMatching +OMIM:610099 myopathy, distal, 3 skos:exactMatch Orphanet:399086 semapv:UnspecifiedMatching OMIM:610099 myopathy, distal, 3 skos:exactMatch UMLS:C1864706 semapv:UnspecifiedMatching -OMIM:610099 myopathy, distal, 3 skos:exactMatch orphanet.ordo:399086 semapv:UnspecifiedMatching -OMIM:610101 CUTC skos:exactMatch hgnc:CUTC semapv:UnspecifiedMatching +OMIM:610101 CUTC skos:exactMatch hgnc.symbol:24271 semapv:UnspecifiedMatching +OMIM:610101 CUTC skos:exactMatch hgnc.symbol:CUTC semapv:UnspecifiedMatching OMIM:610101 CUTC skos:exactMatch ncbigene:51076 semapv:UnspecifiedMatching +OMIM:610102 complement component 7 deficiency skos:exactMatch Orphanet:169150 semapv:UnspecifiedMatching OMIM:610102 complement component 7 deficiency skos:exactMatch UMLS:C1864694 semapv:UnspecifiedMatching -OMIM:610102 complement component 7 deficiency skos:exactMatch orphanet.ordo:169150 semapv:UnspecifiedMatching -OMIM:610103 S100Z skos:exactMatch hgnc:S100Z semapv:UnspecifiedMatching +OMIM:610103 S100Z skos:exactMatch hgnc.symbol:30367 semapv:UnspecifiedMatching +OMIM:610103 S100Z skos:exactMatch hgnc.symbol:S100Z semapv:UnspecifiedMatching OMIM:610103 S100Z skos:exactMatch ncbigene:170591 semapv:UnspecifiedMatching -OMIM:610104 MIR125B1 skos:exactMatch hgnc:MIR125B1 semapv:UnspecifiedMatching +OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:31506 semapv:UnspecifiedMatching +OMIM:610104 MIR125B1 skos:exactMatch hgnc.symbol:MIR125B1 semapv:UnspecifiedMatching OMIM:610104 MIR125B1 skos:exactMatch ncbigene:406911 semapv:UnspecifiedMatching -OMIM:610105 MIR125B2 skos:exactMatch hgnc:MIR125B2 semapv:UnspecifiedMatching +OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:31507 semapv:UnspecifiedMatching +OMIM:610105 MIR125B2 skos:exactMatch hgnc.symbol:MIR125B2 semapv:UnspecifiedMatching OMIM:610105 MIR125B2 skos:exactMatch ncbigene:406912 semapv:UnspecifiedMatching -OMIM:610106 DBNL skos:exactMatch hgnc:DBNL semapv:UnspecifiedMatching +OMIM:610106 DBNL skos:exactMatch hgnc.symbol:2696 semapv:UnspecifiedMatching +OMIM:610106 DBNL skos:exactMatch hgnc.symbol:DBNL semapv:UnspecifiedMatching OMIM:610106 DBNL skos:exactMatch ncbigene:28988 semapv:UnspecifiedMatching OMIM:610107 OSGEP skos:exactMatch UMLS:C1425254 semapv:UnspecifiedMatching OMIM:610107 OSGEP skos:exactMatch UMLS:C4540266 semapv:UnspecifiedMatching -OMIM:610107 OSGEP skos:exactMatch hgnc:OSGEP semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:18028 semapv:UnspecifiedMatching +OMIM:610107 OSGEP skos:exactMatch hgnc.symbol:OSGEP semapv:UnspecifiedMatching OMIM:610107 OSGEP skos:exactMatch ncbigene:55644 semapv:UnspecifiedMatching -OMIM:610108 ANO1 skos:exactMatch hgnc:ANO1 semapv:UnspecifiedMatching +OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:21625 semapv:UnspecifiedMatching +OMIM:610108 ANO1 skos:exactMatch hgnc.symbol:ANO1 semapv:UnspecifiedMatching OMIM:610108 ANO1 skos:exactMatch ncbigene:55107 semapv:UnspecifiedMatching -OMIM:610109 ANO2 skos:exactMatch hgnc:ANO2 semapv:UnspecifiedMatching +OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:1183 semapv:UnspecifiedMatching +OMIM:610109 ANO2 skos:exactMatch hgnc.symbol:ANO2 semapv:UnspecifiedMatching OMIM:610109 ANO2 skos:exactMatch ncbigene:57101 semapv:UnspecifiedMatching -OMIM:610110 ANO3 skos:exactMatch hgnc:ANO3 semapv:UnspecifiedMatching +OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:14004 semapv:UnspecifiedMatching +OMIM:610110 ANO3 skos:exactMatch hgnc.symbol:ANO3 semapv:UnspecifiedMatching OMIM:610110 ANO3 skos:exactMatch ncbigene:63982 semapv:UnspecifiedMatching -OMIM:610111 ANO4 skos:exactMatch hgnc:ANO4 semapv:UnspecifiedMatching +OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:23837 semapv:UnspecifiedMatching +OMIM:610111 ANO4 skos:exactMatch hgnc.symbol:ANO4 semapv:UnspecifiedMatching OMIM:610111 ANO4 skos:exactMatch ncbigene:121601 semapv:UnspecifiedMatching -OMIM:610112 CMIP skos:exactMatch hgnc:CMIP semapv:UnspecifiedMatching +OMIM:610112 CMIP skos:exactMatch hgnc.symbol:24319 semapv:UnspecifiedMatching +OMIM:610112 CMIP skos:exactMatch hgnc.symbol:CMIP semapv:UnspecifiedMatching OMIM:610112 CMIP skos:exactMatch ncbigene:80790 semapv:UnspecifiedMatching -OMIM:610113 ADAMTSL4 skos:exactMatch hgnc:ADAMTSL4 semapv:UnspecifiedMatching +OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:19706 semapv:UnspecifiedMatching +OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:ADAMTSL4 semapv:UnspecifiedMatching OMIM:610113 ADAMTSL4 skos:exactMatch ncbigene:54507 semapv:UnspecifiedMatching -OMIM:610115 TMEM48 skos:exactMatch hgnc:NDC1 semapv:UnspecifiedMatching +OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:25525 semapv:UnspecifiedMatching +OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:NDC1 semapv:UnspecifiedMatching OMIM:610115 TMEM48 skos:exactMatch ncbigene:55706 semapv:UnspecifiedMatching -OMIM:610116 P2RY14 skos:exactMatch hgnc:P2RY14 semapv:UnspecifiedMatching +OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:16442 semapv:UnspecifiedMatching +OMIM:610116 P2RY14 skos:exactMatch hgnc.symbol:P2RY14 semapv:UnspecifiedMatching OMIM:610116 P2RY14 skos:exactMatch ncbigene:9934 semapv:UnspecifiedMatching -OMIM:610117 SLC26A11 skos:exactMatch hgnc:SLC26A11 semapv:UnspecifiedMatching +OMIM:610117 SLC26A11 skos:exactMatch hgnc.symbol:14471 semapv:UnspecifiedMatching +OMIM:610117 SLC26A11 skos:exactMatch hgnc.symbol:SLC26A11 semapv:UnspecifiedMatching OMIM:610117 SLC26A11 skos:exactMatch ncbigene:284129 semapv:UnspecifiedMatching -OMIM:610118 GPR33 skos:exactMatch hgnc:GPR33 semapv:UnspecifiedMatching +OMIM:610118 GPR33 skos:exactMatch hgnc.symbol:4489 semapv:UnspecifiedMatching +OMIM:610118 GPR33 skos:exactMatch hgnc.symbol:GPR33 semapv:UnspecifiedMatching OMIM:610118 GPR33 skos:exactMatch ncbigene:2856 semapv:UnspecifiedMatching -OMIM:610119 TENM2 skos:exactMatch hgnc:TENM2 semapv:UnspecifiedMatching +OMIM:610119 TENM2 skos:exactMatch hgnc.symbol:29943 semapv:UnspecifiedMatching +OMIM:610119 TENM2 skos:exactMatch hgnc.symbol:TENM2 semapv:UnspecifiedMatching OMIM:610119 TENM2 skos:exactMatch ncbigene:57451 semapv:UnspecifiedMatching -OMIM:610120 TSPAN33 skos:exactMatch hgnc:TSPAN33 semapv:UnspecifiedMatching +OMIM:610120 TSPAN33 skos:exactMatch hgnc.symbol:28743 semapv:UnspecifiedMatching +OMIM:610120 TSPAN33 skos:exactMatch hgnc.symbol:TSPAN33 semapv:UnspecifiedMatching OMIM:610120 TSPAN33 skos:exactMatch ncbigene:340348 semapv:UnspecifiedMatching -OMIM:610121 HTR3C skos:exactMatch hgnc:HTR3C semapv:UnspecifiedMatching +OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:24003 semapv:UnspecifiedMatching +OMIM:610121 HTR3C skos:exactMatch hgnc.symbol:HTR3C semapv:UnspecifiedMatching OMIM:610121 HTR3C skos:exactMatch ncbigene:170572 semapv:UnspecifiedMatching -OMIM:610122 HTR3D skos:exactMatch hgnc:HTR3D semapv:UnspecifiedMatching +OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:24004 semapv:UnspecifiedMatching +OMIM:610122 HTR3D skos:exactMatch hgnc.symbol:HTR3D semapv:UnspecifiedMatching OMIM:610122 HTR3D skos:exactMatch ncbigene:200909 semapv:UnspecifiedMatching -OMIM:610123 HTR3E skos:exactMatch hgnc:HTR3E semapv:UnspecifiedMatching +OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:24005 semapv:UnspecifiedMatching +OMIM:610123 HTR3E skos:exactMatch hgnc.symbol:HTR3E semapv:UnspecifiedMatching OMIM:610123 HTR3E skos:exactMatch ncbigene:285242 semapv:UnspecifiedMatching -OMIM:610124 CHST13 skos:exactMatch hgnc:CHST13 semapv:UnspecifiedMatching +OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:21755 semapv:UnspecifiedMatching +OMIM:610124 CHST13 skos:exactMatch hgnc.symbol:CHST13 semapv:UnspecifiedMatching OMIM:610124 CHST13 skos:exactMatch ncbigene:166012 semapv:UnspecifiedMatching -OMIM:610128 CHST11 skos:exactMatch hgnc:CHST11 semapv:UnspecifiedMatching +OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:17422 semapv:UnspecifiedMatching +OMIM:610128 CHST11 skos:exactMatch hgnc.symbol:CHST11 semapv:UnspecifiedMatching OMIM:610128 CHST11 skos:exactMatch ncbigene:50515 semapv:UnspecifiedMatching -OMIM:610129 CHST12 skos:exactMatch hgnc:CHST12 semapv:UnspecifiedMatching +OMIM:610129 CHST12 skos:exactMatch hgnc.symbol:17423 semapv:UnspecifiedMatching +OMIM:610129 CHST12 skos:exactMatch hgnc.symbol:CHST12 semapv:UnspecifiedMatching OMIM:610129 CHST12 skos:exactMatch ncbigene:55501 semapv:UnspecifiedMatching -OMIM:610130 SLC26A1 skos:exactMatch hgnc:SLC26A1 semapv:UnspecifiedMatching +OMIM:610130 SLC26A1 skos:exactMatch hgnc.symbol:10993 semapv:UnspecifiedMatching +OMIM:610130 SLC26A1 skos:exactMatch hgnc.symbol:SLC26A1 semapv:UnspecifiedMatching OMIM:610130 SLC26A1 skos:exactMatch ncbigene:10861 semapv:UnspecifiedMatching -OMIM:610132 VANGL1 skos:exactMatch hgnc:VANGL1 semapv:UnspecifiedMatching +OMIM:610132 VANGL1 skos:exactMatch hgnc.symbol:15512 semapv:UnspecifiedMatching +OMIM:610132 VANGL1 skos:exactMatch hgnc.symbol:VANGL1 semapv:UnspecifiedMatching OMIM:610132 VANGL1 skos:exactMatch ncbigene:81839 semapv:UnspecifiedMatching -OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc:ST6GALNAC3 semapv:UnspecifiedMatching +OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc.symbol:19343 semapv:UnspecifiedMatching +OMIM:610133 ST6GALNAC3 skos:exactMatch hgnc.symbol:ST6GALNAC3 semapv:UnspecifiedMatching OMIM:610133 ST6GALNAC3 skos:exactMatch ncbigene:256435 semapv:UnspecifiedMatching OMIM:610134 ST6GALNAC5 skos:exactMatch UMLS:C1539871 semapv:UnspecifiedMatching -OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc:ST6GALNAC5 semapv:UnspecifiedMatching +OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc.symbol:19342 semapv:UnspecifiedMatching +OMIM:610134 ST6GALNAC5 skos:exactMatch hgnc.symbol:ST6GALNAC5 semapv:UnspecifiedMatching OMIM:610134 ST6GALNAC5 skos:exactMatch ncbigene:81849 semapv:UnspecifiedMatching OMIM:610135 ST6GALNAC6 skos:exactMatch UMLS:C1539872 semapv:UnspecifiedMatching -OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc:ST6GALNAC6 semapv:UnspecifiedMatching +OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc.symbol:23364 semapv:UnspecifiedMatching +OMIM:610135 ST6GALNAC6 skos:exactMatch hgnc.symbol:ST6GALNAC6 semapv:UnspecifiedMatching OMIM:610135 ST6GALNAC6 skos:exactMatch ncbigene:30815 semapv:UnspecifiedMatching -OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc:ST6GALNAC2 semapv:UnspecifiedMatching +OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc.symbol:10867 semapv:UnspecifiedMatching +OMIM:610137 ST6GALNAC2 skos:exactMatch hgnc.symbol:ST6GALNAC2 semapv:UnspecifiedMatching OMIM:610137 ST6GALNAC2 skos:exactMatch ncbigene:10610 semapv:UnspecifiedMatching -OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc:ST6GALNAC1 semapv:UnspecifiedMatching +OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc.symbol:23614 semapv:UnspecifiedMatching +OMIM:610138 ST6GALNAC1 skos:exactMatch hgnc.symbol:ST6GALNAC1 semapv:UnspecifiedMatching OMIM:610138 ST6GALNAC1 skos:exactMatch ncbigene:55808 semapv:UnspecifiedMatching -OMIM:610139 ST8SIA6 skos:exactMatch hgnc:ST8SIA6 semapv:UnspecifiedMatching +OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:23317 semapv:UnspecifiedMatching +OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:ST8SIA6 semapv:UnspecifiedMatching OMIM:610139 ST8SIA6 skos:exactMatch ncbigene:338596 semapv:UnspecifiedMatching -OMIM:610142 CEP290 skos:exactMatch hgnc:CEP290 semapv:UnspecifiedMatching +OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:29021 semapv:UnspecifiedMatching +OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:CEP290 semapv:UnspecifiedMatching OMIM:610142 CEP290 skos:exactMatch ncbigene:80184 semapv:UnspecifiedMatching -OMIM:610144 TBC1D3B skos:exactMatch hgnc:TBC1D3B semapv:UnspecifiedMatching +OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:27011 semapv:UnspecifiedMatching +OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:TBC1D3B semapv:UnspecifiedMatching OMIM:610144 TBC1D3B skos:exactMatch ncbigene:414059 semapv:UnspecifiedMatching -OMIM:610145 ECE2 skos:exactMatch hgnc:ECE2 semapv:UnspecifiedMatching +OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:13275 semapv:UnspecifiedMatching +OMIM:610145 ECE2 skos:exactMatch hgnc.symbol:ECE2 semapv:UnspecifiedMatching OMIM:610145 ECE2 skos:exactMatch ncbigene:9718 semapv:UnspecifiedMatching -OMIM:610146 IGF2AS skos:exactMatch hgnc:IGF2-AS semapv:UnspecifiedMatching +OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:14062 semapv:UnspecifiedMatching +OMIM:610146 IGF2AS skos:exactMatch hgnc.symbol:IGF2-AS semapv:UnspecifiedMatching OMIM:610146 IGF2AS skos:exactMatch ncbigene:51214 semapv:UnspecifiedMatching -OMIM:610147 GPBAR1 skos:exactMatch hgnc:GPBAR1 semapv:UnspecifiedMatching +OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:19680 semapv:UnspecifiedMatching +OMIM:610147 GPBAR1 skos:exactMatch hgnc.symbol:GPBAR1 semapv:UnspecifiedMatching OMIM:610147 GPBAR1 skos:exactMatch ncbigene:151306 semapv:UnspecifiedMatching -OMIM:610148 BBS10 skos:exactMatch hgnc:BBS10 semapv:UnspecifiedMatching +OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:26291 semapv:UnspecifiedMatching +OMIM:610148 BBS10 skos:exactMatch hgnc.symbol:BBS10 semapv:UnspecifiedMatching OMIM:610148 BBS10 skos:exactMatch ncbigene:79738 semapv:UnspecifiedMatching -OMIM:610150 CCT5 skos:exactMatch hgnc:CCT5 semapv:UnspecifiedMatching +OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:1618 semapv:UnspecifiedMatching +OMIM:610150 CCT5 skos:exactMatch hgnc.symbol:CCT5 semapv:UnspecifiedMatching OMIM:610150 CCT5 skos:exactMatch ncbigene:22948 semapv:UnspecifiedMatching -OMIM:610151 METAP1 skos:exactMatch hgnc:METAP1 semapv:UnspecifiedMatching +OMIM:610151 METAP1 skos:exactMatch hgnc.symbol:15789 semapv:UnspecifiedMatching +OMIM:610151 METAP1 skos:exactMatch hgnc.symbol:METAP1 semapv:UnspecifiedMatching OMIM:610151 METAP1 skos:exactMatch ncbigene:23173 semapv:UnspecifiedMatching -OMIM:610152 CENPM skos:exactMatch hgnc:CENPM semapv:UnspecifiedMatching +OMIM:610152 CENPM skos:exactMatch hgnc.symbol:18352 semapv:UnspecifiedMatching +OMIM:610152 CENPM skos:exactMatch hgnc.symbol:CENPM semapv:UnspecifiedMatching OMIM:610152 CENPM skos:exactMatch ncbigene:79019 semapv:UnspecifiedMatching OMIM:610155 iia 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:UnspecifiedMatching -OMIM:610159 ZNF366 skos:exactMatch hgnc:ZNF366 semapv:UnspecifiedMatching +OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:18316 semapv:UnspecifiedMatching +OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:ZNF366 semapv:UnspecifiedMatching OMIM:610159 ZNF366 skos:exactMatch ncbigene:167465 semapv:UnspecifiedMatching -OMIM:610160 ZNF367 skos:exactMatch hgnc:ZNF367 semapv:UnspecifiedMatching +OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:18320 semapv:UnspecifiedMatching +OMIM:610160 ZNF367 skos:exactMatch hgnc.symbol:ZNF367 semapv:UnspecifiedMatching OMIM:610160 ZNF367 skos:exactMatch ncbigene:195828 semapv:UnspecifiedMatching -OMIM:610161 TFAP2D skos:exactMatch hgnc:TFAP2D semapv:UnspecifiedMatching +OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:15581 semapv:UnspecifiedMatching +OMIM:610161 TFAP2D skos:exactMatch hgnc.symbol:TFAP2D semapv:UnspecifiedMatching OMIM:610161 TFAP2D skos:exactMatch ncbigene:83741 semapv:UnspecifiedMatching -OMIM:610162 CCDC28B skos:exactMatch hgnc:CCDC28B semapv:UnspecifiedMatching +OMIM:610162 CCDC28B skos:exactMatch hgnc.symbol:28163 semapv:UnspecifiedMatching +OMIM:610162 CCDC28B skos:exactMatch hgnc.symbol:CCDC28B semapv:UnspecifiedMatching OMIM:610162 CCDC28B skos:exactMatch ncbigene:79140 semapv:UnspecifiedMatching -OMIM:610164 MIRN134 skos:exactMatch hgnc:MIR134 semapv:UnspecifiedMatching +OMIM:610164 MIRN134 skos:exactMatch hgnc.symbol:31519 semapv:UnspecifiedMatching +OMIM:610164 MIRN134 skos:exactMatch hgnc.symbol:MIR134 semapv:UnspecifiedMatching OMIM:610164 MIRN134 skos:exactMatch ncbigene:406924 semapv:UnspecifiedMatching -OMIM:610165 GTDC1 skos:exactMatch hgnc:GTDC1 semapv:UnspecifiedMatching +OMIM:610165 GTDC1 skos:exactMatch hgnc.symbol:20887 semapv:UnspecifiedMatching +OMIM:610165 GTDC1 skos:exactMatch hgnc.symbol:GTDC1 semapv:UnspecifiedMatching OMIM:610165 GTDC1 skos:exactMatch ncbigene:79712 semapv:UnspecifiedMatching -OMIM:610166 IQSEC1 skos:exactMatch hgnc:IQSEC1 semapv:UnspecifiedMatching +OMIM:610166 IQSEC1 skos:exactMatch hgnc.symbol:29112 semapv:UnspecifiedMatching +OMIM:610166 IQSEC1 skos:exactMatch hgnc.symbol:IQSEC1 semapv:UnspecifiedMatching OMIM:610166 IQSEC1 skos:exactMatch ncbigene:9922 semapv:UnspecifiedMatching -OMIM:610167 PHPT1 skos:exactMatch hgnc:PHPT1 semapv:UnspecifiedMatching +OMIM:610167 PHPT1 skos:exactMatch hgnc.symbol:30033 semapv:UnspecifiedMatching +OMIM:610167 PHPT1 skos:exactMatch hgnc.symbol:PHPT1 semapv:UnspecifiedMatching OMIM:610167 PHPT1 skos:exactMatch ncbigene:29085 semapv:UnspecifiedMatching -OMIM:610169 INO80 skos:exactMatch hgnc:INO80 semapv:UnspecifiedMatching +OMIM:610169 INO80 skos:exactMatch hgnc.symbol:26956 semapv:UnspecifiedMatching +OMIM:610169 INO80 skos:exactMatch hgnc.symbol:INO80 semapv:UnspecifiedMatching OMIM:610169 INO80 skos:exactMatch ncbigene:54617 semapv:UnspecifiedMatching -OMIM:610171 CALML6 skos:exactMatch hgnc:CALML6 semapv:UnspecifiedMatching +OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:24193 semapv:UnspecifiedMatching +OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:CALML6 semapv:UnspecifiedMatching OMIM:610171 CALML6 skos:exactMatch ncbigene:163688 semapv:UnspecifiedMatching OMIM:610172 SPEF2 skos:exactMatch UMLS:C1857794 semapv:UnspecifiedMatching OMIM:610172 SPEF2 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching -OMIM:610172 SPEF2 skos:exactMatch hgnc:SPEF2 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:26293 semapv:UnspecifiedMatching +OMIM:610172 SPEF2 skos:exactMatch hgnc.symbol:SPEF2 semapv:UnspecifiedMatching OMIM:610172 SPEF2 skos:exactMatch ncbigene:79925 semapv:UnspecifiedMatching -OMIM:610173 MIR10A skos:exactMatch hgnc:MIR10A semapv:UnspecifiedMatching +OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:31497 semapv:UnspecifiedMatching +OMIM:610173 MIR10A skos:exactMatch hgnc.symbol:MIR10A semapv:UnspecifiedMatching OMIM:610173 MIR10A skos:exactMatch ncbigene:406902 semapv:UnspecifiedMatching -OMIM:610174 UBTD2 skos:exactMatch hgnc:UBTD2 semapv:UnspecifiedMatching +OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:24463 semapv:UnspecifiedMatching +OMIM:610174 UBTD2 skos:exactMatch hgnc.symbol:UBTD2 semapv:UnspecifiedMatching OMIM:610174 UBTD2 skos:exactMatch ncbigene:92181 semapv:UnspecifiedMatching -OMIM:610175 MIR130A skos:exactMatch hgnc:MIR130A semapv:UnspecifiedMatching +OMIM:610175 MIR130A skos:exactMatch hgnc.symbol:31514 semapv:UnspecifiedMatching +OMIM:610175 MIR130A skos:exactMatch hgnc.symbol:MIR130A semapv:UnspecifiedMatching OMIM:610175 MIR130A skos:exactMatch ncbigene:406919 semapv:UnspecifiedMatching -OMIM:610176 SCGB1C1 skos:exactMatch hgnc:SCGB1C1 semapv:UnspecifiedMatching +OMIM:610176 SCGB1C1 skos:exactMatch hgnc.symbol:18394 semapv:UnspecifiedMatching +OMIM:610176 SCGB1C1 skos:exactMatch hgnc.symbol:SCGB1C1 semapv:UnspecifiedMatching OMIM:610176 SCGB1C1 skos:exactMatch ncbigene:147199 semapv:UnspecifiedMatching -OMIM:610177 AEN skos:exactMatch hgnc:AEN semapv:UnspecifiedMatching +OMIM:610177 AEN skos:exactMatch hgnc.symbol:25722 semapv:UnspecifiedMatching +OMIM:610177 AEN skos:exactMatch hgnc.symbol:AEN semapv:UnspecifiedMatching OMIM:610177 AEN skos:exactMatch ncbigene:64782 semapv:UnspecifiedMatching -OMIM:610178 KIAA0586 skos:exactMatch hgnc:KIAA0586 semapv:UnspecifiedMatching +OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:19960 semapv:UnspecifiedMatching +OMIM:610178 KIAA0586 skos:exactMatch hgnc.symbol:KIAA0586 semapv:UnspecifiedMatching OMIM:610178 KIAA0586 skos:exactMatch ncbigene:9786 semapv:UnspecifiedMatching -OMIM:610179 PLB1 skos:exactMatch hgnc:PLB1 semapv:UnspecifiedMatching +OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:30041 semapv:UnspecifiedMatching +OMIM:610179 PLB1 skos:exactMatch hgnc.symbol:PLB1 semapv:UnspecifiedMatching OMIM:610179 PLB1 skos:exactMatch ncbigene:151056 semapv:UnspecifiedMatching -OMIM:610180 OSTF1 skos:exactMatch hgnc:OSTF1 semapv:UnspecifiedMatching +OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:8510 semapv:UnspecifiedMatching +OMIM:610180 OSTF1 skos:exactMatch hgnc.symbol:OSTF1 semapv:UnspecifiedMatching OMIM:610180 OSTF1 skos:exactMatch ncbigene:26578 semapv:UnspecifiedMatching -OMIM:610182 PALMD skos:exactMatch hgnc:PALMD semapv:UnspecifiedMatching +OMIM:610182 PALMD skos:exactMatch hgnc.symbol:15846 semapv:UnspecifiedMatching +OMIM:610182 PALMD skos:exactMatch hgnc.symbol:PALMD semapv:UnspecifiedMatching OMIM:610182 PALMD skos:exactMatch ncbigene:54873 semapv:UnspecifiedMatching -OMIM:610183 ZFAND6 skos:exactMatch hgnc:ZFAND6 semapv:UnspecifiedMatching +OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:30164 semapv:UnspecifiedMatching +OMIM:610183 ZFAND6 skos:exactMatch hgnc.symbol:ZFAND6 semapv:UnspecifiedMatching OMIM:610183 ZFAND6 skos:exactMatch ncbigene:54469 semapv:UnspecifiedMatching -OMIM:610184 MOGAT3 skos:exactMatch hgnc:MOGAT3 semapv:UnspecifiedMatching +OMIM:610184 MOGAT3 skos:exactMatch hgnc.symbol:23249 semapv:UnspecifiedMatching +OMIM:610184 MOGAT3 skos:exactMatch hgnc.symbol:MOGAT3 semapv:UnspecifiedMatching OMIM:610184 MOGAT3 skos:exactMatch ncbigene:346606 semapv:UnspecifiedMatching -OMIM:610186 USP17L2 skos:exactMatch hgnc:USP17L2 semapv:UnspecifiedMatching +OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:34434 semapv:UnspecifiedMatching +OMIM:610186 USP17L2 skos:exactMatch hgnc.symbol:USP17L2 semapv:UnspecifiedMatching OMIM:610186 USP17L2 skos:exactMatch ncbigene:377630 semapv:UnspecifiedMatching -OMIM:610190 CHST8 skos:exactMatch hgnc:CHST8 semapv:UnspecifiedMatching +OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:15993 semapv:UnspecifiedMatching +OMIM:610190 CHST8 skos:exactMatch hgnc.symbol:CHST8 semapv:UnspecifiedMatching OMIM:610190 CHST8 skos:exactMatch ncbigene:64377 semapv:UnspecifiedMatching -OMIM:610191 CHST9 skos:exactMatch hgnc:CHST9 semapv:UnspecifiedMatching +OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:19898 semapv:UnspecifiedMatching +OMIM:610191 CHST9 skos:exactMatch hgnc.symbol:CHST9 semapv:UnspecifiedMatching OMIM:610191 CHST9 skos:exactMatch ncbigene:83539 semapv:UnspecifiedMatching -OMIM:610192 GLIS3 skos:exactMatch hgnc:GLIS3 semapv:UnspecifiedMatching +OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:28510 semapv:UnspecifiedMatching +OMIM:610192 GLIS3 skos:exactMatch hgnc.symbol:GLIS3 semapv:UnspecifiedMatching OMIM:610192 GLIS3 skos:exactMatch ncbigene:169792 semapv:UnspecifiedMatching -OMIM:610194 B3GALNT2 skos:exactMatch hgnc:B3GALNT2 semapv:UnspecifiedMatching +OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:28596 semapv:UnspecifiedMatching +OMIM:610194 B3GALNT2 skos:exactMatch hgnc.symbol:B3GALNT2 semapv:UnspecifiedMatching OMIM:610194 B3GALNT2 skos:exactMatch ncbigene:148789 semapv:UnspecifiedMatching -OMIM:610195 PTOV1 skos:exactMatch hgnc:PTOV1 semapv:UnspecifiedMatching +OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:9632 semapv:UnspecifiedMatching +OMIM:610195 PTOV1 skos:exactMatch hgnc.symbol:PTOV1 semapv:UnspecifiedMatching OMIM:610195 PTOV1 skos:exactMatch ncbigene:53635 semapv:UnspecifiedMatching -OMIM:610196 ELMOD2 skos:exactMatch hgnc:ELMOD2 semapv:UnspecifiedMatching +OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:28111 semapv:UnspecifiedMatching +OMIM:610196 ELMOD2 skos:exactMatch hgnc.symbol:ELMOD2 semapv:UnspecifiedMatching OMIM:610196 ELMOD2 skos:exactMatch ncbigene:255520 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C1537681 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch UMLS:C4225323 semapv:UnspecifiedMatching -OMIM:610197 MED25 skos:exactMatch hgnc:MED25 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch hgnc.symbol:28845 semapv:UnspecifiedMatching +OMIM:610197 MED25 skos:exactMatch hgnc.symbol:MED25 semapv:UnspecifiedMatching OMIM:610197 MED25 skos:exactMatch ncbigene:81857 semapv:UnspecifiedMatching -OMIM:610200 MRPL13 skos:exactMatch hgnc:MRPL13 semapv:UnspecifiedMatching +OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:14278 semapv:UnspecifiedMatching +OMIM:610200 MRPL13 skos:exactMatch hgnc.symbol:MRPL13 semapv:UnspecifiedMatching OMIM:610200 MRPL13 skos:exactMatch ncbigene:28998 semapv:UnspecifiedMatching -OMIM:610201 CEP162 skos:exactMatch hgnc:CEP162 semapv:UnspecifiedMatching +OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:21107 semapv:UnspecifiedMatching +OMIM:610201 CEP162 skos:exactMatch hgnc.symbol:CEP162 semapv:UnspecifiedMatching OMIM:610201 CEP162 skos:exactMatch ncbigene:22832 semapv:UnspecifiedMatching +OMIM:610202 cataract 21, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C1857768 semapv:UnspecifiedMatching OMIM:610202 cataract 21, multiple types skos:exactMatch UMLS:C3888097 semapv:UnspecifiedMatching -OMIM:610202 cataract 21, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:610206 SLC4A11 skos:exactMatch hgnc:SLC4A11 semapv:UnspecifiedMatching +OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:16438 semapv:UnspecifiedMatching +OMIM:610206 SLC4A11 skos:exactMatch hgnc.symbol:SLC4A11 semapv:UnspecifiedMatching OMIM:610206 SLC4A11 skos:exactMatch ncbigene:83959 semapv:UnspecifiedMatching -OMIM:610207 SLC4A9 skos:exactMatch hgnc:SLC4A9 semapv:UnspecifiedMatching +OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:11035 semapv:UnspecifiedMatching +OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:SLC4A9 semapv:UnspecifiedMatching OMIM:610207 SLC4A9 skos:exactMatch ncbigene:83697 semapv:UnspecifiedMatching -OMIM:610210 MAF1 skos:exactMatch hgnc:MAF1 semapv:UnspecifiedMatching +OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:24966 semapv:UnspecifiedMatching +OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:MAF1 semapv:UnspecifiedMatching OMIM:610210 MAF1 skos:exactMatch ncbigene:84232 semapv:UnspecifiedMatching -OMIM:610211 SLIRP skos:exactMatch hgnc:SLIRP semapv:UnspecifiedMatching +OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:20495 semapv:UnspecifiedMatching +OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:SLIRP semapv:UnspecifiedMatching OMIM:610211 SLIRP skos:exactMatch ncbigene:81892 semapv:UnspecifiedMatching -OMIM:610214 EDEM3 skos:exactMatch hgnc:EDEM3 semapv:UnspecifiedMatching +OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:16787 semapv:UnspecifiedMatching +OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:EDEM3 semapv:UnspecifiedMatching OMIM:610214 EDEM3 skos:exactMatch ncbigene:80267 semapv:UnspecifiedMatching -OMIM:610215 ARHGEF25 skos:exactMatch hgnc:ARHGEF25 semapv:UnspecifiedMatching +OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:30275 semapv:UnspecifiedMatching +OMIM:610215 ARHGEF25 skos:exactMatch hgnc.symbol:ARHGEF25 semapv:UnspecifiedMatching OMIM:610215 ARHGEF25 skos:exactMatch ncbigene:115557 semapv:UnspecifiedMatching -OMIM:610216 ANO8 skos:exactMatch hgnc:ANO8 semapv:UnspecifiedMatching +OMIM:610216 ANO8 skos:exactMatch hgnc.symbol:29329 semapv:UnspecifiedMatching +OMIM:610216 ANO8 skos:exactMatch hgnc.symbol:ANO8 semapv:UnspecifiedMatching OMIM:610216 ANO8 skos:exactMatch ncbigene:57719 semapv:UnspecifiedMatching -OMIM:610218 SAP30BP skos:exactMatch hgnc:SAP30BP semapv:UnspecifiedMatching +OMIM:610218 SAP30BP skos:exactMatch hgnc.symbol:30785 semapv:UnspecifiedMatching +OMIM:610218 SAP30BP skos:exactMatch hgnc.symbol:SAP30BP semapv:UnspecifiedMatching OMIM:610218 SAP30BP skos:exactMatch ncbigene:29115 semapv:UnspecifiedMatching -OMIM:610219 PJVK skos:exactMatch hgnc:PJVK semapv:UnspecifiedMatching +OMIM:610219 PJVK skos:exactMatch hgnc.symbol:29502 semapv:UnspecifiedMatching +OMIM:610219 PJVK skos:exactMatch hgnc.symbol:PJVK semapv:UnspecifiedMatching OMIM:610219 PJVK skos:exactMatch ncbigene:494513 semapv:UnspecifiedMatching -OMIM:610221 AKT1S1 skos:exactMatch hgnc:AKT1S1 semapv:UnspecifiedMatching +OMIM:610221 AKT1S1 skos:exactMatch hgnc.symbol:28426 semapv:UnspecifiedMatching +OMIM:610221 AKT1S1 skos:exactMatch hgnc.symbol:AKT1S1 semapv:UnspecifiedMatching OMIM:610221 AKT1S1 skos:exactMatch ncbigene:84335 semapv:UnspecifiedMatching OMIM:610222 RIN2 skos:exactMatch UMLS:C1425756 semapv:UnspecifiedMatching OMIM:610222 RIN2 skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching -OMIM:610222 RIN2 skos:exactMatch hgnc:RIN2 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:18750 semapv:UnspecifiedMatching +OMIM:610222 RIN2 skos:exactMatch hgnc.symbol:RIN2 semapv:UnspecifiedMatching OMIM:610222 RIN2 skos:exactMatch ncbigene:54453 semapv:UnspecifiedMatching -OMIM:610223 RIN3 skos:exactMatch hgnc:RIN3 semapv:UnspecifiedMatching +OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:18751 semapv:UnspecifiedMatching +OMIM:610223 RIN3 skos:exactMatch hgnc.symbol:RIN3 semapv:UnspecifiedMatching OMIM:610223 RIN3 skos:exactMatch ncbigene:79890 semapv:UnspecifiedMatching -OMIM:610224 SOHLH1 skos:exactMatch hgnc:SOHLH1 semapv:UnspecifiedMatching +OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:27845 semapv:UnspecifiedMatching +OMIM:610224 SOHLH1 skos:exactMatch hgnc.symbol:SOHLH1 semapv:UnspecifiedMatching OMIM:610224 SOHLH1 skos:exactMatch ncbigene:402381 semapv:UnspecifiedMatching -OMIM:610225 RPS19BP1 skos:exactMatch hgnc:RPS19BP1 semapv:UnspecifiedMatching +OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:28749 semapv:UnspecifiedMatching +OMIM:610225 RPS19BP1 skos:exactMatch hgnc.symbol:RPS19BP1 semapv:UnspecifiedMatching OMIM:610225 RPS19BP1 skos:exactMatch ncbigene:91582 semapv:UnspecifiedMatching -OMIM:610226 ZNF750 skos:exactMatch hgnc:ZNF750 semapv:UnspecifiedMatching +OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:25843 semapv:UnspecifiedMatching +OMIM:610226 ZNF750 skos:exactMatch hgnc.symbol:ZNF750 semapv:UnspecifiedMatching OMIM:610226 ZNF750 skos:exactMatch ncbigene:79755 semapv:UnspecifiedMatching -OMIM:610228 CAPN13 skos:exactMatch hgnc:CAPN13 semapv:UnspecifiedMatching +OMIM:610228 CAPN13 skos:exactMatch hgnc.symbol:16663 semapv:UnspecifiedMatching +OMIM:610228 CAPN13 skos:exactMatch hgnc.symbol:CAPN13 semapv:UnspecifiedMatching OMIM:610228 CAPN13 skos:exactMatch ncbigene:92291 semapv:UnspecifiedMatching -OMIM:610229 CAPN14 skos:exactMatch hgnc:CAPN14 semapv:UnspecifiedMatching +OMIM:610229 CAPN14 skos:exactMatch hgnc.symbol:16664 semapv:UnspecifiedMatching +OMIM:610229 CAPN14 skos:exactMatch hgnc.symbol:CAPN14 semapv:UnspecifiedMatching OMIM:610229 CAPN14 skos:exactMatch ncbigene:440854 semapv:UnspecifiedMatching -OMIM:610230 TRMU skos:exactMatch hgnc:TRMU semapv:UnspecifiedMatching +OMIM:610230 TRMU skos:exactMatch hgnc.symbol:25481 semapv:UnspecifiedMatching +OMIM:610230 TRMU skos:exactMatch hgnc.symbol:TRMU semapv:UnspecifiedMatching OMIM:610230 TRMU skos:exactMatch ncbigene:55687 semapv:UnspecifiedMatching -OMIM:610231 PCGF1 skos:exactMatch hgnc:PCGF1 semapv:UnspecifiedMatching +OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:17615 semapv:UnspecifiedMatching +OMIM:610231 PCGF1 skos:exactMatch hgnc.symbol:PCGF1 semapv:UnspecifiedMatching OMIM:610231 PCGF1 skos:exactMatch ncbigene:84759 semapv:UnspecifiedMatching OMIM:610232 ATP13A3 skos:exactMatch UMLS:C1540216 semapv:UnspecifiedMatching -OMIM:610232 ATP13A3 skos:exactMatch hgnc:ATP13A3 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:24113 semapv:UnspecifiedMatching +OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:ATP13A3 semapv:UnspecifiedMatching OMIM:610232 ATP13A3 skos:exactMatch ncbigene:79572 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch UMLS:C1853254 semapv:UnspecifiedMatching -OMIM:610235 MTFP1 skos:exactMatch hgnc:MTFP1 semapv:UnspecifiedMatching +OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:26945 semapv:UnspecifiedMatching +OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:MTFP1 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch ncbigene:51537 semapv:UnspecifiedMatching -OMIM:610236 LNPK skos:exactMatch hgnc:LNPK semapv:UnspecifiedMatching +OMIM:610236 LNPK skos:exactMatch hgnc.symbol:21610 semapv:UnspecifiedMatching +OMIM:610236 LNPK skos:exactMatch hgnc.symbol:LNPK semapv:UnspecifiedMatching OMIM:610236 LNPK skos:exactMatch ncbigene:80856 semapv:UnspecifiedMatching -OMIM:610237 MED30 skos:exactMatch hgnc:MED30 semapv:UnspecifiedMatching +OMIM:610237 MED30 skos:exactMatch hgnc.symbol:23032 semapv:UnspecifiedMatching +OMIM:610237 MED30 skos:exactMatch hgnc.symbol:MED30 semapv:UnspecifiedMatching OMIM:610237 MED30 skos:exactMatch ncbigene:90390 semapv:UnspecifiedMatching -OMIM:610238 SLC5A11 skos:exactMatch hgnc:SLC5A11 semapv:UnspecifiedMatching +OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:23091 semapv:UnspecifiedMatching +OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:SLC5A11 semapv:UnspecifiedMatching OMIM:610238 SLC5A11 skos:exactMatch ncbigene:115584 semapv:UnspecifiedMatching -OMIM:610240 LHFPL4 skos:exactMatch hgnc:LHFPL4 semapv:UnspecifiedMatching +OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:29568 semapv:UnspecifiedMatching +OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:LHFPL4 semapv:UnspecifiedMatching OMIM:610240 LHFPL4 skos:exactMatch ncbigene:375323 semapv:UnspecifiedMatching -OMIM:610241 RNF32 skos:exactMatch hgnc:RNF32 semapv:UnspecifiedMatching +OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:17118 semapv:UnspecifiedMatching +OMIM:610241 RNF32 skos:exactMatch hgnc.symbol:RNF32 semapv:UnspecifiedMatching OMIM:610241 RNF32 skos:exactMatch ncbigene:140545 semapv:UnspecifiedMatching -OMIM:610242 C7ORF13 skos:exactMatch hgnc:RNF32-DT semapv:UnspecifiedMatching +OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:48971 semapv:UnspecifiedMatching +OMIM:610242 C7ORF13 skos:exactMatch hgnc.symbol:RNF32-DT semapv:UnspecifiedMatching OMIM:610242 C7ORF13 skos:exactMatch ncbigene:100506380 semapv:UnspecifiedMatching -OMIM:610243 ZFYVE27 skos:exactMatch hgnc:ZFYVE27 semapv:UnspecifiedMatching +OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:26559 semapv:UnspecifiedMatching +OMIM:610243 ZFYVE27 skos:exactMatch hgnc.symbol:ZFYVE27 semapv:UnspecifiedMatching OMIM:610243 ZFYVE27 skos:exactMatch ncbigene:118813 semapv:UnspecifiedMatching +OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching -OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch orphanet.ordo:101109 semapv:UnspecifiedMatching -OMIM:610249 POFUT2 skos:exactMatch hgnc:POFUT2 semapv:UnspecifiedMatching +OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:14683 semapv:UnspecifiedMatching +OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:POFUT2 semapv:UnspecifiedMatching OMIM:610249 POFUT2 skos:exactMatch ncbigene:23275 semapv:UnspecifiedMatching -OMIM:610252 MIR1-2 skos:exactMatch hgnc:MIR1-2 semapv:UnspecifiedMatching +OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:31500 semapv:UnspecifiedMatching +OMIM:610252 MIR1-2 skos:exactMatch hgnc.symbol:MIR1-2 semapv:UnspecifiedMatching OMIM:610252 MIR1-2 skos:exactMatch ncbigene:406905 semapv:UnspecifiedMatching -OMIM:610254 MIR133A1 skos:exactMatch hgnc:MIR133A1 semapv:UnspecifiedMatching +OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:31517 semapv:UnspecifiedMatching +OMIM:610254 MIR133A1 skos:exactMatch hgnc.symbol:MIR133A1 semapv:UnspecifiedMatching OMIM:610254 MIR133A1 skos:exactMatch ncbigene:406922 semapv:UnspecifiedMatching -OMIM:610255 MIR133A2 skos:exactMatch hgnc:MIR133A2 semapv:UnspecifiedMatching +OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:31518 semapv:UnspecifiedMatching +OMIM:610255 MIR133A2 skos:exactMatch hgnc.symbol:MIR133A2 semapv:UnspecifiedMatching OMIM:610255 MIR133A2 skos:exactMatch ncbigene:406923 semapv:UnspecifiedMatching -OMIM:610257 SEC31A skos:exactMatch hgnc:SEC31A semapv:UnspecifiedMatching +OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:17052 semapv:UnspecifiedMatching +OMIM:610257 SEC31A skos:exactMatch hgnc.symbol:SEC31A semapv:UnspecifiedMatching OMIM:610257 SEC31A skos:exactMatch ncbigene:22872 semapv:UnspecifiedMatching -OMIM:610258 SEC31B skos:exactMatch hgnc:SEC31B semapv:UnspecifiedMatching +OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:23197 semapv:UnspecifiedMatching +OMIM:610258 SEC31B skos:exactMatch hgnc.symbol:SEC31B semapv:UnspecifiedMatching OMIM:610258 SEC31B skos:exactMatch ncbigene:25956 semapv:UnspecifiedMatching -OMIM:610259 LINC00163 skos:exactMatch hgnc:LINC00163 semapv:UnspecifiedMatching +OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:33165 semapv:UnspecifiedMatching +OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:LINC00163 semapv:UnspecifiedMatching OMIM:610259 LINC00163 skos:exactMatch ncbigene:727699 semapv:UnspecifiedMatching -OMIM:610263 DNAJB13 skos:exactMatch hgnc:DNAJB13 semapv:UnspecifiedMatching +OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:30718 semapv:UnspecifiedMatching +OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:DNAJB13 semapv:UnspecifiedMatching OMIM:610263 DNAJB13 skos:exactMatch ncbigene:374407 semapv:UnspecifiedMatching -OMIM:610264 TEPP skos:exactMatch hgnc:SPMIP8 semapv:UnspecifiedMatching +OMIM:610264 TEPP skos:exactMatch hgnc.symbol:SPMIP8 semapv:UnspecifiedMatching OMIM:610264 TEPP skos:exactMatch ncbigene:374739 semapv:UnspecifiedMatching -OMIM:610266 TAOK1 skos:exactMatch hgnc:TAOK1 semapv:UnspecifiedMatching +OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:29259 semapv:UnspecifiedMatching +OMIM:610266 TAOK1 skos:exactMatch hgnc.symbol:TAOK1 semapv:UnspecifiedMatching OMIM:610266 TAOK1 skos:exactMatch ncbigene:57551 semapv:UnspecifiedMatching -OMIM:610267 METAP1D skos:exactMatch hgnc:METAP1D semapv:UnspecifiedMatching +OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:32583 semapv:UnspecifiedMatching +OMIM:610267 METAP1D skos:exactMatch hgnc.symbol:METAP1D semapv:UnspecifiedMatching OMIM:610267 METAP1D skos:exactMatch ncbigene:254042 semapv:UnspecifiedMatching -OMIM:610268 MOGAT1 skos:exactMatch hgnc:MOGAT1 semapv:UnspecifiedMatching +OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:18210 semapv:UnspecifiedMatching +OMIM:610268 MOGAT1 skos:exactMatch hgnc.symbol:MOGAT1 semapv:UnspecifiedMatching OMIM:610268 MOGAT1 skos:exactMatch ncbigene:116255 semapv:UnspecifiedMatching -OMIM:610270 MOGAT2 skos:exactMatch hgnc:MOGAT2 semapv:UnspecifiedMatching +OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:23248 semapv:UnspecifiedMatching +OMIM:610270 MOGAT2 skos:exactMatch hgnc.symbol:MOGAT2 semapv:UnspecifiedMatching OMIM:610270 MOGAT2 skos:exactMatch ncbigene:80168 semapv:UnspecifiedMatching OMIM:610271 PIGS skos:exactMatch UMLS:C1423069 semapv:UnspecifiedMatching OMIM:610271 PIGS skos:exactMatch UMLS:C4748357 semapv:UnspecifiedMatching -OMIM:610271 PIGS skos:exactMatch hgnc:PIGS semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch hgnc.symbol:14937 semapv:UnspecifiedMatching +OMIM:610271 PIGS skos:exactMatch hgnc.symbol:PIGS semapv:UnspecifiedMatching OMIM:610271 PIGS skos:exactMatch ncbigene:94005 semapv:UnspecifiedMatching -OMIM:610272 PIGT skos:exactMatch hgnc:PIGT semapv:UnspecifiedMatching +OMIM:610272 PIGT skos:exactMatch hgnc.symbol:14938 semapv:UnspecifiedMatching +OMIM:610272 PIGT skos:exactMatch hgnc.symbol:PIGT semapv:UnspecifiedMatching OMIM:610272 PIGT skos:exactMatch ncbigene:51604 semapv:UnspecifiedMatching -OMIM:610273 PIGM skos:exactMatch hgnc:PIGM semapv:UnspecifiedMatching +OMIM:610273 PIGM skos:exactMatch hgnc.symbol:18858 semapv:UnspecifiedMatching +OMIM:610273 PIGM skos:exactMatch hgnc.symbol:PIGM semapv:UnspecifiedMatching OMIM:610273 PIGM skos:exactMatch ncbigene:93183 semapv:UnspecifiedMatching -OMIM:610274 PIGV skos:exactMatch hgnc:PIGV semapv:UnspecifiedMatching +OMIM:610274 PIGV skos:exactMatch hgnc.symbol:26031 semapv:UnspecifiedMatching +OMIM:610274 PIGV skos:exactMatch hgnc.symbol:PIGV semapv:UnspecifiedMatching OMIM:610274 PIGV skos:exactMatch ncbigene:55650 semapv:UnspecifiedMatching -OMIM:610275 PIGW skos:exactMatch hgnc:PIGW semapv:UnspecifiedMatching +OMIM:610275 PIGW skos:exactMatch hgnc.symbol:23213 semapv:UnspecifiedMatching +OMIM:610275 PIGW skos:exactMatch hgnc.symbol:PIGW semapv:UnspecifiedMatching OMIM:610275 PIGW skos:exactMatch ncbigene:284098 semapv:UnspecifiedMatching -OMIM:610276 PIGX skos:exactMatch hgnc:PIGX semapv:UnspecifiedMatching +OMIM:610276 PIGX skos:exactMatch hgnc.symbol:26046 semapv:UnspecifiedMatching +OMIM:610276 PIGX skos:exactMatch hgnc.symbol:PIGX semapv:UnspecifiedMatching OMIM:610276 PIGX skos:exactMatch ncbigene:54965 semapv:UnspecifiedMatching -OMIM:610277 ORAI1 skos:exactMatch hgnc:ORAI1 semapv:UnspecifiedMatching +OMIM:610277 ORAI1 skos:exactMatch hgnc.symbol:25896 semapv:UnspecifiedMatching +OMIM:610277 ORAI1 skos:exactMatch hgnc.symbol:ORAI1 semapv:UnspecifiedMatching OMIM:610277 ORAI1 skos:exactMatch ncbigene:84876 semapv:UnspecifiedMatching -OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc:PEAR1 semapv:UnspecifiedMatching +OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.symbol:33631 semapv:UnspecifiedMatching +OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch hgnc.symbol:PEAR1 semapv:UnspecifiedMatching OMIM:610278 platelet endothelial aggregation receptor 1 skos:exactMatch ncbigene:375033 semapv:UnspecifiedMatching -OMIM:610280 OSTN skos:exactMatch hgnc:OSTN semapv:UnspecifiedMatching +OMIM:610280 OSTN skos:exactMatch hgnc.symbol:29961 semapv:UnspecifiedMatching +OMIM:610280 OSTN skos:exactMatch hgnc.symbol:OSTN semapv:UnspecifiedMatching OMIM:610280 OSTN skos:exactMatch ncbigene:344901 semapv:UnspecifiedMatching -OMIM:610281 ZFP62 skos:exactMatch hgnc:ZFP62 semapv:UnspecifiedMatching +OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:23241 semapv:UnspecifiedMatching +OMIM:610281 ZFP62 skos:exactMatch hgnc.symbol:ZFP62 semapv:UnspecifiedMatching OMIM:610281 ZFP62 skos:exactMatch ncbigene:643836 semapv:UnspecifiedMatching -OMIM:610284 LIPT1 skos:exactMatch hgnc:LIPT1 semapv:UnspecifiedMatching +OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:29569 semapv:UnspecifiedMatching +OMIM:610284 LIPT1 skos:exactMatch hgnc.symbol:LIPT1 semapv:UnspecifiedMatching OMIM:610284 LIPT1 skos:exactMatch ncbigene:51601 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch UMLS:C1824957 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch UMLS:C1850792 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching -OMIM:610285 DOK7 skos:exactMatch hgnc:DOK7 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:26594 semapv:UnspecifiedMatching +OMIM:610285 DOK7 skos:exactMatch hgnc.symbol:DOK7 semapv:UnspecifiedMatching OMIM:610285 DOK7 skos:exactMatch ncbigene:285489 semapv:UnspecifiedMatching -OMIM:610286 LCMT1 skos:exactMatch hgnc:LCMT1 semapv:UnspecifiedMatching +OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:17557 semapv:UnspecifiedMatching +OMIM:610286 LCMT1 skos:exactMatch hgnc.symbol:LCMT1 semapv:UnspecifiedMatching OMIM:610286 LCMT1 skos:exactMatch ncbigene:51451 semapv:UnspecifiedMatching -OMIM:610287 FBXL15 skos:exactMatch hgnc:FBXL15 semapv:UnspecifiedMatching +OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:28155 semapv:UnspecifiedMatching +OMIM:610287 FBXL15 skos:exactMatch hgnc.symbol:FBXL15 semapv:UnspecifiedMatching OMIM:610287 FBXL15 skos:exactMatch ncbigene:79176 semapv:UnspecifiedMatching -OMIM:610288 GOLGA6A skos:exactMatch hgnc:GOLGA6A semapv:UnspecifiedMatching +OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:13567 semapv:UnspecifiedMatching +OMIM:610288 GOLGA6A skos:exactMatch hgnc.symbol:GOLGA6A semapv:UnspecifiedMatching OMIM:610288 GOLGA6A skos:exactMatch ncbigene:342096 semapv:UnspecifiedMatching -OMIM:610289 OXCT2 skos:exactMatch hgnc:OXCT2 semapv:UnspecifiedMatching +OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:18606 semapv:UnspecifiedMatching +OMIM:610289 OXCT2 skos:exactMatch hgnc.symbol:OXCT2 semapv:UnspecifiedMatching OMIM:610289 OXCT2 skos:exactMatch ncbigene:64064 semapv:UnspecifiedMatching -OMIM:610290 GALNT12 skos:exactMatch hgnc:GALNT12 semapv:UnspecifiedMatching +OMIM:610290 GALNT12 skos:exactMatch hgnc.symbol:19877 semapv:UnspecifiedMatching +OMIM:610290 GALNT12 skos:exactMatch hgnc.symbol:GALNT12 semapv:UnspecifiedMatching OMIM:610290 GALNT12 skos:exactMatch ncbigene:79695 semapv:UnspecifiedMatching -OMIM:610291 SV2C skos:exactMatch hgnc:SV2C semapv:UnspecifiedMatching +OMIM:610291 SV2C skos:exactMatch hgnc.symbol:30670 semapv:UnspecifiedMatching +OMIM:610291 SV2C skos:exactMatch hgnc.symbol:SV2C semapv:UnspecifiedMatching OMIM:610291 SV2C skos:exactMatch ncbigene:22987 semapv:UnspecifiedMatching -OMIM:610292 BANK1 skos:exactMatch hgnc:BANK1 semapv:UnspecifiedMatching +OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:18233 semapv:UnspecifiedMatching +OMIM:610292 BANK1 skos:exactMatch hgnc.symbol:BANK1 semapv:UnspecifiedMatching OMIM:610292 BANK1 skos:exactMatch ncbigene:55024 semapv:UnspecifiedMatching +OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C1853205 semapv:UnspecifiedMatching OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching -OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch orphanet.ordo:83639 semapv:UnspecifiedMatching -OMIM:610296 NUDCD3 skos:exactMatch hgnc:NUDCD3 semapv:UnspecifiedMatching +OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:22208 semapv:UnspecifiedMatching +OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:NUDCD3 semapv:UnspecifiedMatching OMIM:610296 NUDCD3 skos:exactMatch ncbigene:23386 semapv:UnspecifiedMatching -OMIM:610298 PHLDB2 skos:exactMatch hgnc:PHLDB2 semapv:UnspecifiedMatching +OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:29573 semapv:UnspecifiedMatching +OMIM:610298 PHLDB2 skos:exactMatch hgnc.symbol:PHLDB2 semapv:UnspecifiedMatching OMIM:610298 PHLDB2 skos:exactMatch ncbigene:90102 semapv:UnspecifiedMatching -OMIM:610299 SLC6A17 skos:exactMatch hgnc:SLC6A17 semapv:UnspecifiedMatching +OMIM:610299 SLC6A17 skos:exactMatch hgnc.symbol:31399 semapv:UnspecifiedMatching +OMIM:610299 SLC6A17 skos:exactMatch hgnc.symbol:SLC6A17 semapv:UnspecifiedMatching OMIM:610299 SLC6A17 skos:exactMatch ncbigene:388662 semapv:UnspecifiedMatching -OMIM:610300 SLC6A18 skos:exactMatch hgnc:SLC6A18 semapv:UnspecifiedMatching +OMIM:610300 SLC6A18 skos:exactMatch hgnc.symbol:26441 semapv:UnspecifiedMatching +OMIM:610300 SLC6A18 skos:exactMatch hgnc.symbol:SLC6A18 semapv:UnspecifiedMatching OMIM:610300 SLC6A18 skos:exactMatch ncbigene:348932 semapv:UnspecifiedMatching -OMIM:610301 TMEM57 skos:exactMatch hgnc:MACO1 semapv:UnspecifiedMatching +OMIM:610301 TMEM57 skos:exactMatch hgnc.symbol:25572 semapv:UnspecifiedMatching +OMIM:610301 TMEM57 skos:exactMatch hgnc.symbol:MACO1 semapv:UnspecifiedMatching OMIM:610301 TMEM57 skos:exactMatch ncbigene:55219 semapv:UnspecifiedMatching -OMIM:610302 EDEM2 skos:exactMatch hgnc:EDEM2 semapv:UnspecifiedMatching +OMIM:610302 EDEM2 skos:exactMatch hgnc.symbol:15877 semapv:UnspecifiedMatching +OMIM:610302 EDEM2 skos:exactMatch hgnc.symbol:EDEM2 semapv:UnspecifiedMatching OMIM:610302 EDEM2 skos:exactMatch ncbigene:55741 semapv:UnspecifiedMatching -OMIM:610303 MAFA skos:exactMatch hgnc:MAFA semapv:UnspecifiedMatching +OMIM:610303 MAFA skos:exactMatch hgnc.symbol:23145 semapv:UnspecifiedMatching +OMIM:610303 MAFA skos:exactMatch hgnc.symbol:MAFA semapv:UnspecifiedMatching OMIM:610303 MAFA skos:exactMatch ncbigene:389692 semapv:UnspecifiedMatching -OMIM:610304 DERL2 skos:exactMatch hgnc:DERL2 semapv:UnspecifiedMatching +OMIM:610304 DERL2 skos:exactMatch hgnc.symbol:17943 semapv:UnspecifiedMatching +OMIM:610304 DERL2 skos:exactMatch hgnc.symbol:DERL2 semapv:UnspecifiedMatching OMIM:610304 DERL2 skos:exactMatch ncbigene:51009 semapv:UnspecifiedMatching -OMIM:610305 DERL3 skos:exactMatch hgnc:DERL3 semapv:UnspecifiedMatching +OMIM:610305 DERL3 skos:exactMatch hgnc.symbol:14236 semapv:UnspecifiedMatching +OMIM:610305 DERL3 skos:exactMatch hgnc.symbol:DERL3 semapv:UnspecifiedMatching OMIM:610305 DERL3 skos:exactMatch ncbigene:91319 semapv:UnspecifiedMatching -OMIM:610306 NPNT skos:exactMatch hgnc:NPNT semapv:UnspecifiedMatching +OMIM:610306 NPNT skos:exactMatch hgnc.symbol:27405 semapv:UnspecifiedMatching +OMIM:610306 NPNT skos:exactMatch hgnc.symbol:NPNT semapv:UnspecifiedMatching OMIM:610306 NPNT skos:exactMatch ncbigene:255743 semapv:UnspecifiedMatching -OMIM:610307 CERK skos:exactMatch hgnc:CERK semapv:UnspecifiedMatching +OMIM:610307 CERK skos:exactMatch hgnc.symbol:19256 semapv:UnspecifiedMatching +OMIM:610307 CERK skos:exactMatch hgnc.symbol:CERK semapv:UnspecifiedMatching OMIM:610307 CERK skos:exactMatch ncbigene:64781 semapv:UnspecifiedMatching -OMIM:610308 B3GLCT skos:exactMatch hgnc:B3GLCT semapv:UnspecifiedMatching +OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:20207 semapv:UnspecifiedMatching +OMIM:610308 B3GLCT skos:exactMatch hgnc.symbol:B3GLCT semapv:UnspecifiedMatching OMIM:610308 B3GLCT skos:exactMatch ncbigene:145173 semapv:UnspecifiedMatching -OMIM:610309 UBE2S skos:exactMatch hgnc:UBE2S semapv:UnspecifiedMatching +OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:17895 semapv:UnspecifiedMatching +OMIM:610309 UBE2S skos:exactMatch hgnc.symbol:UBE2S semapv:UnspecifiedMatching OMIM:610309 UBE2S skos:exactMatch ncbigene:27338 semapv:UnspecifiedMatching -OMIM:610310 MGAT4D skos:exactMatch hgnc:MGAT4D semapv:UnspecifiedMatching +OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:43619 semapv:UnspecifiedMatching +OMIM:610310 MGAT4D skos:exactMatch hgnc.symbol:MGAT4D semapv:UnspecifiedMatching OMIM:610310 MGAT4D skos:exactMatch ncbigene:152586 semapv:UnspecifiedMatching -OMIM:610311 MED28 skos:exactMatch hgnc:MED28 semapv:UnspecifiedMatching +OMIM:610311 MED28 skos:exactMatch hgnc.symbol:24628 semapv:UnspecifiedMatching +OMIM:610311 MED28 skos:exactMatch hgnc.symbol:MED28 semapv:UnspecifiedMatching OMIM:610311 MED28 skos:exactMatch ncbigene:80306 semapv:UnspecifiedMatching -OMIM:610312 PIWIL2 skos:exactMatch hgnc:PIWIL2 semapv:UnspecifiedMatching +OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:17644 semapv:UnspecifiedMatching +OMIM:610312 PIWIL2 skos:exactMatch hgnc.symbol:PIWIL2 semapv:UnspecifiedMatching OMIM:610312 PIWIL2 skos:exactMatch ncbigene:55124 semapv:UnspecifiedMatching +OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch UMLS:C1853198 semapv:UnspecifiedMatching -OMIM:610313 crisponi/cold-induced sweating syndrome 2 skos:exactMatch orphanet.ordo:157820 semapv:UnspecifiedMatching -OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc:PIWIL3 semapv:UnspecifiedMatching +OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:18443 semapv:UnspecifiedMatching +OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch hgnc.symbol:PIWIL3 semapv:UnspecifiedMatching OMIM:610314 piwi-like rna-mediated gene silencing 3: piwil3 skos:exactMatch ncbigene:440822 semapv:UnspecifiedMatching -OMIM:610315 PIWIL4 skos:exactMatch hgnc:PIWIL4 semapv:UnspecifiedMatching +OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:18444 semapv:UnspecifiedMatching +OMIM:610315 PIWIL4 skos:exactMatch hgnc.symbol:PIWIL4 semapv:UnspecifiedMatching OMIM:610315 PIWIL4 skos:exactMatch ncbigene:143689 semapv:UnspecifiedMatching -OMIM:610316 PNPT1 skos:exactMatch hgnc:PNPT1 semapv:UnspecifiedMatching +OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:23166 semapv:UnspecifiedMatching +OMIM:610316 PNPT1 skos:exactMatch hgnc.symbol:PNPT1 semapv:UnspecifiedMatching OMIM:610316 PNPT1 skos:exactMatch ncbigene:87178 semapv:UnspecifiedMatching -OMIM:610317 COBL skos:exactMatch hgnc:COBL semapv:UnspecifiedMatching +OMIM:610317 COBL skos:exactMatch hgnc.symbol:22199 semapv:UnspecifiedMatching +OMIM:610317 COBL skos:exactMatch hgnc.symbol:COBL semapv:UnspecifiedMatching OMIM:610317 COBL skos:exactMatch ncbigene:23242 semapv:UnspecifiedMatching -OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc:COBLL1 semapv:UnspecifiedMatching +OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc.symbol:23571 semapv:UnspecifiedMatching +OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch hgnc.symbol:COBLL1 semapv:UnspecifiedMatching OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch ncbigene:22837 semapv:UnspecifiedMatching OMIM:610320 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching -OMIM:610322 TRERF1 skos:exactMatch hgnc:TRERF1 semapv:UnspecifiedMatching +OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:18273 semapv:UnspecifiedMatching +OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:TRERF1 semapv:UnspecifiedMatching OMIM:610322 TRERF1 skos:exactMatch ncbigene:55809 semapv:UnspecifiedMatching -OMIM:610323 MTDH skos:exactMatch hgnc:MTDH semapv:UnspecifiedMatching +OMIM:610323 MTDH skos:exactMatch hgnc.symbol:29608 semapv:UnspecifiedMatching +OMIM:610323 MTDH skos:exactMatch hgnc.symbol:MTDH semapv:UnspecifiedMatching OMIM:610323 MTDH skos:exactMatch ncbigene:92140 semapv:UnspecifiedMatching -OMIM:610324 OXSM skos:exactMatch hgnc:OXSM semapv:UnspecifiedMatching +OMIM:610324 OXSM skos:exactMatch hgnc.symbol:26063 semapv:UnspecifiedMatching +OMIM:610324 OXSM skos:exactMatch hgnc.symbol:OXSM semapv:UnspecifiedMatching OMIM:610324 OXSM skos:exactMatch ncbigene:54995 semapv:UnspecifiedMatching -OMIM:610325 NUDC skos:exactMatch hgnc:NUDC semapv:UnspecifiedMatching +OMIM:610325 NUDC skos:exactMatch hgnc.symbol:8045 semapv:UnspecifiedMatching +OMIM:610325 NUDC skos:exactMatch hgnc.symbol:NUDC semapv:UnspecifiedMatching OMIM:610325 NUDC skos:exactMatch ncbigene:10726 semapv:UnspecifiedMatching -OMIM:610326 RNASEH2B skos:exactMatch hgnc:RNASEH2B semapv:UnspecifiedMatching +OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:25671 semapv:UnspecifiedMatching +OMIM:610326 RNASEH2B skos:exactMatch hgnc.symbol:RNASEH2B semapv:UnspecifiedMatching OMIM:610326 RNASEH2B skos:exactMatch ncbigene:79621 semapv:UnspecifiedMatching -OMIM:610327 RUFY1 skos:exactMatch hgnc:RUFY1 semapv:UnspecifiedMatching +OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:19760 semapv:UnspecifiedMatching +OMIM:610327 RUFY1 skos:exactMatch hgnc.symbol:RUFY1 semapv:UnspecifiedMatching OMIM:610327 RUFY1 skos:exactMatch ncbigene:80230 semapv:UnspecifiedMatching -OMIM:610328 RUFY2 skos:exactMatch hgnc:RUFY2 semapv:UnspecifiedMatching +OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:19761 semapv:UnspecifiedMatching +OMIM:610328 RUFY2 skos:exactMatch hgnc.symbol:RUFY2 semapv:UnspecifiedMatching OMIM:610328 RUFY2 skos:exactMatch ncbigene:55680 semapv:UnspecifiedMatching -OMIM:610330 RNASEH2C skos:exactMatch hgnc:RNASEH2C semapv:UnspecifiedMatching +OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:24116 semapv:UnspecifiedMatching +OMIM:610330 RNASEH2C skos:exactMatch hgnc.symbol:RNASEH2C semapv:UnspecifiedMatching OMIM:610330 RNASEH2C skos:exactMatch ncbigene:84153 semapv:UnspecifiedMatching OMIM:610331 HES6 skos:exactMatch UMLS:C1425399 semapv:UnspecifiedMatching -OMIM:610331 HES6 skos:exactMatch hgnc:HES6 semapv:UnspecifiedMatching +OMIM:610331 HES6 skos:exactMatch hgnc.symbol:18254 semapv:UnspecifiedMatching +OMIM:610331 HES6 skos:exactMatch hgnc.symbol:HES6 semapv:UnspecifiedMatching OMIM:610331 HES6 skos:exactMatch ncbigene:55502 semapv:UnspecifiedMatching -OMIM:610334 TMEM176A skos:exactMatch hgnc:TMEM176A semapv:UnspecifiedMatching +OMIM:610334 TMEM176A skos:exactMatch hgnc.symbol:24930 semapv:UnspecifiedMatching +OMIM:610334 TMEM176A skos:exactMatch hgnc.symbol:TMEM176A semapv:UnspecifiedMatching OMIM:610334 TMEM176A skos:exactMatch ncbigene:55365 semapv:UnspecifiedMatching -OMIM:610335 PHF20 skos:exactMatch hgnc:PHF20 semapv:UnspecifiedMatching +OMIM:610335 PHF20 skos:exactMatch hgnc.symbol:16098 semapv:UnspecifiedMatching +OMIM:610335 PHF20 skos:exactMatch hgnc.symbol:PHF20 semapv:UnspecifiedMatching OMIM:610335 PHF20 skos:exactMatch ncbigene:51230 semapv:UnspecifiedMatching -OMIM:610336 C2CD4C skos:exactMatch hgnc:C2CD4C semapv:UnspecifiedMatching +OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:29417 semapv:UnspecifiedMatching +OMIM:610336 C2CD4C skos:exactMatch hgnc.symbol:C2CD4C semapv:UnspecifiedMatching OMIM:610336 C2CD4C skos:exactMatch ncbigene:126567 semapv:UnspecifiedMatching -OMIM:610337 URGCP skos:exactMatch hgnc:URGCP semapv:UnspecifiedMatching +OMIM:610337 URGCP skos:exactMatch hgnc.symbol:30890 semapv:UnspecifiedMatching +OMIM:610337 URGCP skos:exactMatch hgnc.symbol:URGCP semapv:UnspecifiedMatching OMIM:610337 URGCP skos:exactMatch ncbigene:55665 semapv:UnspecifiedMatching -OMIM:610339 P3H1 skos:exactMatch hgnc:P3H1 semapv:UnspecifiedMatching +OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:19316 semapv:UnspecifiedMatching +OMIM:610339 P3H1 skos:exactMatch hgnc.symbol:P3H1 semapv:UnspecifiedMatching OMIM:610339 P3H1 skos:exactMatch ncbigene:64175 semapv:UnspecifiedMatching -OMIM:610340 EPB41L4B skos:exactMatch hgnc:EPB41L4B semapv:UnspecifiedMatching +OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:19818 semapv:UnspecifiedMatching +OMIM:610340 EPB41L4B skos:exactMatch hgnc.symbol:EPB41L4B semapv:UnspecifiedMatching OMIM:610340 EPB41L4B skos:exactMatch ncbigene:54566 semapv:UnspecifiedMatching -OMIM:610341 P3H2 skos:exactMatch hgnc:P3H2 semapv:UnspecifiedMatching +OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:19317 semapv:UnspecifiedMatching +OMIM:610341 P3H2 skos:exactMatch hgnc.symbol:P3H2 semapv:UnspecifiedMatching OMIM:610341 P3H2 skos:exactMatch ncbigene:55214 semapv:UnspecifiedMatching -OMIM:610342 P3H3 skos:exactMatch hgnc:P3H3 semapv:UnspecifiedMatching +OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:19318 semapv:UnspecifiedMatching +OMIM:610342 P3H3 skos:exactMatch hgnc.symbol:P3H3 semapv:UnspecifiedMatching OMIM:610342 P3H3 skos:exactMatch ncbigene:10536 semapv:UnspecifiedMatching -OMIM:610343 C2CD4A skos:exactMatch hgnc:C2CD4A semapv:UnspecifiedMatching +OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:33627 semapv:UnspecifiedMatching +OMIM:610343 C2CD4A skos:exactMatch hgnc.symbol:C2CD4A semapv:UnspecifiedMatching OMIM:610343 C2CD4A skos:exactMatch ncbigene:145741 semapv:UnspecifiedMatching -OMIM:610344 C2CD4B skos:exactMatch hgnc:C2CD4B semapv:UnspecifiedMatching +OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:33628 semapv:UnspecifiedMatching +OMIM:610344 C2CD4B skos:exactMatch hgnc.symbol:C2CD4B semapv:UnspecifiedMatching OMIM:610344 C2CD4B skos:exactMatch ncbigene:388125 semapv:UnspecifiedMatching -OMIM:610345 AGK skos:exactMatch hgnc:AGK semapv:UnspecifiedMatching +OMIM:610345 AGK skos:exactMatch hgnc.symbol:21869 semapv:UnspecifiedMatching +OMIM:610345 AGK skos:exactMatch hgnc.symbol:AGK semapv:UnspecifiedMatching OMIM:610345 AGK skos:exactMatch ncbigene:55750 semapv:UnspecifiedMatching -OMIM:610346 CDC37L1 skos:exactMatch hgnc:CDC37L1 semapv:UnspecifiedMatching +OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:17179 semapv:UnspecifiedMatching +OMIM:610346 CDC37L1 skos:exactMatch hgnc.symbol:CDC37L1 semapv:UnspecifiedMatching OMIM:610346 CDC37L1 skos:exactMatch ncbigene:55664 semapv:UnspecifiedMatching -OMIM:610347 RPRD1A skos:exactMatch hgnc:RPRD1A semapv:UnspecifiedMatching +OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:25560 semapv:UnspecifiedMatching +OMIM:610347 RPRD1A skos:exactMatch hgnc.symbol:RPRD1A semapv:UnspecifiedMatching OMIM:610347 RPRD1A skos:exactMatch ncbigene:55197 semapv:UnspecifiedMatching -OMIM:610348 SLF2 skos:exactMatch hgnc:SLF2 semapv:UnspecifiedMatching +OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:17814 semapv:UnspecifiedMatching +OMIM:610348 SLF2 skos:exactMatch hgnc.symbol:SLF2 semapv:UnspecifiedMatching OMIM:610348 SLF2 skos:exactMatch ncbigene:55719 semapv:UnspecifiedMatching -OMIM:610349 MAMSTR skos:exactMatch hgnc:MAMSTR semapv:UnspecifiedMatching +OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:26689 semapv:UnspecifiedMatching +OMIM:610349 MAMSTR skos:exactMatch hgnc.symbol:MAMSTR semapv:UnspecifiedMatching OMIM:610349 MAMSTR skos:exactMatch ncbigene:284358 semapv:UnspecifiedMatching -OMIM:610350 LINS1 skos:exactMatch hgnc:LINS1 semapv:UnspecifiedMatching +OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:30922 semapv:UnspecifiedMatching +OMIM:610350 LINS1 skos:exactMatch hgnc.symbol:LINS1 semapv:UnspecifiedMatching OMIM:610350 LINS1 skos:exactMatch ncbigene:55180 semapv:UnspecifiedMatching -OMIM:610351 PPP4R3A skos:exactMatch hgnc:PPP4R3A semapv:UnspecifiedMatching +OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:20219 semapv:UnspecifiedMatching +OMIM:610351 PPP4R3A skos:exactMatch hgnc.symbol:PPP4R3A semapv:UnspecifiedMatching OMIM:610351 PPP4R3A skos:exactMatch ncbigene:55671 semapv:UnspecifiedMatching -OMIM:610352 PPP4R3B skos:exactMatch hgnc:PPP4R3B semapv:UnspecifiedMatching +OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:29267 semapv:UnspecifiedMatching +OMIM:610352 PPP4R3B skos:exactMatch hgnc.symbol:PPP4R3B semapv:UnspecifiedMatching OMIM:610352 PPP4R3B skos:exactMatch ncbigene:57223 semapv:UnspecifiedMatching OMIM:610354 RIC1 skos:exactMatch UMLS:C1425035 semapv:UnspecifiedMatching OMIM:610354 RIC1 skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching -OMIM:610354 RIC1 skos:exactMatch hgnc:RIC1 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:17686 semapv:UnspecifiedMatching +OMIM:610354 RIC1 skos:exactMatch hgnc.symbol:RIC1 semapv:UnspecifiedMatching OMIM:610354 RIC1 skos:exactMatch ncbigene:57589 semapv:UnspecifiedMatching -OMIM:610355 PALB2 skos:exactMatch hgnc:PALB2 semapv:UnspecifiedMatching +OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:26144 semapv:UnspecifiedMatching +OMIM:610355 PALB2 skos:exactMatch hgnc.symbol:PALB2 semapv:UnspecifiedMatching OMIM:610355 PALB2 skos:exactMatch ncbigene:79728 semapv:UnspecifiedMatching +OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch Orphanet:101010 semapv:UnspecifiedMatching OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch UMLS:C5235139 semapv:UnspecifiedMatching -OMIM:610357 spastic paraplegia 30, autosomal dominant skos:exactMatch orphanet.ordo:101010 semapv:UnspecifiedMatching OMIM:610358 SPCS1 skos:exactMatch UMLS:C1539816 semapv:UnspecifiedMatching -OMIM:610358 SPCS1 skos:exactMatch hgnc:SPCS1 semapv:UnspecifiedMatching +OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:23401 semapv:UnspecifiedMatching +OMIM:610358 SPCS1 skos:exactMatch hgnc.symbol:SPCS1 semapv:UnspecifiedMatching OMIM:610358 SPCS1 skos:exactMatch ncbigene:28972 semapv:UnspecifiedMatching -OMIM:610360 MUC20 skos:exactMatch hgnc:MUC20 semapv:UnspecifiedMatching +OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:23282 semapv:UnspecifiedMatching +OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:MUC20 semapv:UnspecifiedMatching OMIM:610360 MUC20 skos:exactMatch ncbigene:200958 semapv:UnspecifiedMatching -OMIM:610362 RAX2 skos:exactMatch hgnc:RAX2 semapv:UnspecifiedMatching +OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:18286 semapv:UnspecifiedMatching +OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:RAX2 semapv:UnspecifiedMatching OMIM:610362 RAX2 skos:exactMatch ncbigene:84839 semapv:UnspecifiedMatching -OMIM:610363 PADI6 skos:exactMatch hgnc:PADI6 semapv:UnspecifiedMatching +OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:20449 semapv:UnspecifiedMatching +OMIM:610363 PADI6 skos:exactMatch hgnc.symbol:PADI6 semapv:UnspecifiedMatching OMIM:610363 PADI6 skos:exactMatch ncbigene:353238 semapv:UnspecifiedMatching -OMIM:610364 TMBIM1 skos:exactMatch hgnc:TMBIM1 semapv:UnspecifiedMatching +OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:23410 semapv:UnspecifiedMatching +OMIM:610364 TMBIM1 skos:exactMatch hgnc.symbol:TMBIM1 semapv:UnspecifiedMatching OMIM:610364 TMBIM1 skos:exactMatch ncbigene:64114 semapv:UnspecifiedMatching -OMIM:610365 C1QTNF1 skos:exactMatch hgnc:C1QTNF1 semapv:UnspecifiedMatching +OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:14324 semapv:UnspecifiedMatching +OMIM:610365 C1QTNF1 skos:exactMatch hgnc.symbol:C1QTNF1 semapv:UnspecifiedMatching OMIM:610365 C1QTNF1 skos:exactMatch ncbigene:114897 semapv:UnspecifiedMatching -OMIM:610366 AP3M1 skos:exactMatch hgnc:AP3M1 semapv:UnspecifiedMatching +OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:569 semapv:UnspecifiedMatching +OMIM:610366 AP3M1 skos:exactMatch hgnc.symbol:AP3M1 semapv:UnspecifiedMatching OMIM:610366 AP3M1 skos:exactMatch ncbigene:26985 semapv:UnspecifiedMatching -OMIM:610367 SLC2A11 skos:exactMatch hgnc:SLC2A11 semapv:UnspecifiedMatching +OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:14239 semapv:UnspecifiedMatching +OMIM:610367 SLC2A11 skos:exactMatch hgnc.symbol:SLC2A11 semapv:UnspecifiedMatching OMIM:610367 SLC2A11 skos:exactMatch ncbigene:66035 semapv:UnspecifiedMatching -OMIM:610368 LRCH1 skos:exactMatch hgnc:LRCH1 semapv:UnspecifiedMatching +OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:20309 semapv:UnspecifiedMatching +OMIM:610368 LRCH1 skos:exactMatch hgnc.symbol:LRCH1 semapv:UnspecifiedMatching OMIM:610368 LRCH1 skos:exactMatch ncbigene:23143 semapv:UnspecifiedMatching -OMIM:610369 HSPA14 skos:exactMatch hgnc:HSPA14 semapv:UnspecifiedMatching +OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:29526 semapv:UnspecifiedMatching +OMIM:610369 HSPA14 skos:exactMatch hgnc.symbol:HSPA14 semapv:UnspecifiedMatching OMIM:610369 HSPA14 skos:exactMatch ncbigene:51182 semapv:UnspecifiedMatching -OMIM:610371 SLC2A7 skos:exactMatch hgnc:SLC2A7 semapv:UnspecifiedMatching +OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:13445 semapv:UnspecifiedMatching +OMIM:610371 SLC2A7 skos:exactMatch hgnc.symbol:SLC2A7 semapv:UnspecifiedMatching OMIM:610371 SLC2A7 skos:exactMatch ncbigene:155184 semapv:UnspecifiedMatching -OMIM:610372 SLC2A12 skos:exactMatch hgnc:SLC2A12 semapv:UnspecifiedMatching +OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:18067 semapv:UnspecifiedMatching +OMIM:610372 SLC2A12 skos:exactMatch hgnc.symbol:SLC2A12 semapv:UnspecifiedMatching OMIM:610372 SLC2A12 skos:exactMatch ncbigene:154091 semapv:UnspecifiedMatching OMIM:610373 DDX50 skos:exactMatch UMLS:C1425165 semapv:UnspecifiedMatching -OMIM:610373 DDX50 skos:exactMatch hgnc:DDX50 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:17906 semapv:UnspecifiedMatching +OMIM:610373 DDX50 skos:exactMatch hgnc.symbol:DDX50 semapv:UnspecifiedMatching OMIM:610373 DDX50 skos:exactMatch ncbigene:79009 semapv:UnspecifiedMatching +OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch UMLS:C1835887 semapv:UnspecifiedMatching -OMIM:610374 diabetes mellitus, transient neonatal, 2 skos:exactMatch orphanet.ordo:99886 semapv:UnspecifiedMatching -OMIM:610375 CAPRIN2 skos:exactMatch hgnc:CAPRIN2 semapv:UnspecifiedMatching +OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:21259 semapv:UnspecifiedMatching +OMIM:610375 CAPRIN2 skos:exactMatch hgnc.symbol:CAPRIN2 semapv:UnspecifiedMatching OMIM:610375 CAPRIN2 skos:exactMatch ncbigene:65981 semapv:UnspecifiedMatching -OMIM:610376 ACKR3 skos:exactMatch hgnc:ACKR3 semapv:UnspecifiedMatching +OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:23692 semapv:UnspecifiedMatching +OMIM:610376 ACKR3 skos:exactMatch hgnc.symbol:ACKR3 semapv:UnspecifiedMatching OMIM:610376 ACKR3 skos:exactMatch ncbigene:57007 semapv:UnspecifiedMatching +OMIM:610377 mevalonic aciduria skos:exactMatch Orphanet:29 semapv:UnspecifiedMatching OMIM:610377 mevalonic aciduria skos:exactMatch UMLS:C1959626 semapv:UnspecifiedMatching -OMIM:610377 mevalonic aciduria skos:exactMatch orphanet.ordo:29 semapv:UnspecifiedMatching -OMIM:610378 GLIS1 skos:exactMatch hgnc:GLIS1 semapv:UnspecifiedMatching +OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:29525 semapv:UnspecifiedMatching +OMIM:610378 GLIS1 skos:exactMatch hgnc.symbol:GLIS1 semapv:UnspecifiedMatching OMIM:610378 GLIS1 skos:exactMatch ncbigene:148979 semapv:UnspecifiedMatching -OMIM:610383 RASSF9 skos:exactMatch hgnc:RASSF9 semapv:UnspecifiedMatching +OMIM:610383 RASSF9 skos:exactMatch hgnc.symbol:15739 semapv:UnspecifiedMatching +OMIM:610383 RASSF9 skos:exactMatch hgnc.symbol:RASSF9 semapv:UnspecifiedMatching OMIM:610383 RASSF9 skos:exactMatch ncbigene:9182 semapv:UnspecifiedMatching -OMIM:610384 HECW1 skos:exactMatch hgnc:HECW1 semapv:UnspecifiedMatching +OMIM:610384 HECW1 skos:exactMatch hgnc.symbol:22195 semapv:UnspecifiedMatching +OMIM:610384 HECW1 skos:exactMatch hgnc.symbol:HECW1 semapv:UnspecifiedMatching OMIM:610384 HECW1 skos:exactMatch ncbigene:23072 semapv:UnspecifiedMatching -OMIM:610385 LR8 skos:exactMatch hgnc:TMEM176B semapv:UnspecifiedMatching +OMIM:610385 LR8 skos:exactMatch hgnc.symbol:29596 semapv:UnspecifiedMatching +OMIM:610385 LR8 skos:exactMatch hgnc.symbol:TMEM176B semapv:UnspecifiedMatching OMIM:610385 LR8 skos:exactMatch ncbigene:28959 semapv:UnspecifiedMatching -OMIM:610386 BTBD7 skos:exactMatch hgnc:BTBD7 semapv:UnspecifiedMatching +OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:18269 semapv:UnspecifiedMatching +OMIM:610386 BTBD7 skos:exactMatch hgnc.symbol:BTBD7 semapv:UnspecifiedMatching OMIM:610386 BTBD7 skos:exactMatch ncbigene:55727 semapv:UnspecifiedMatching OMIM:610387 SLC25A37 skos:exactMatch UMLS:C1835863 semapv:UnspecifiedMatching -OMIM:610387 SLC25A37 skos:exactMatch hgnc:SLC25A37 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:29786 semapv:UnspecifiedMatching +OMIM:610387 SLC25A37 skos:exactMatch hgnc.symbol:SLC25A37 semapv:UnspecifiedMatching OMIM:610387 SLC25A37 skos:exactMatch ncbigene:51312 semapv:UnspecifiedMatching OMIM:610388 REM1 skos:exactMatch UMLS:C1538825 semapv:UnspecifiedMatching -OMIM:610388 REM1 skos:exactMatch hgnc:REM1 semapv:UnspecifiedMatching +OMIM:610388 REM1 skos:exactMatch hgnc.symbol:15922 semapv:UnspecifiedMatching +OMIM:610388 REM1 skos:exactMatch hgnc.symbol:REM1 semapv:UnspecifiedMatching OMIM:610388 REM1 skos:exactMatch ncbigene:28954 semapv:UnspecifiedMatching -OMIM:610389 LAMTOR2 skos:exactMatch hgnc:LAMTOR2 semapv:UnspecifiedMatching +OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:29796 semapv:UnspecifiedMatching +OMIM:610389 LAMTOR2 skos:exactMatch hgnc.symbol:LAMTOR2 semapv:UnspecifiedMatching OMIM:610389 LAMTOR2 skos:exactMatch ncbigene:28956 semapv:UnspecifiedMatching -OMIM:610390 MPEG1 skos:exactMatch hgnc:MPEG1 semapv:UnspecifiedMatching +OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:29619 semapv:UnspecifiedMatching +OMIM:610390 MPEG1 skos:exactMatch hgnc.symbol:MPEG1 semapv:UnspecifiedMatching OMIM:610390 MPEG1 skos:exactMatch ncbigene:219972 semapv:UnspecifiedMatching -OMIM:610391 PLPPR3 skos:exactMatch hgnc:PLPPR3 semapv:UnspecifiedMatching +OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:23497 semapv:UnspecifiedMatching +OMIM:610391 PLPPR3 skos:exactMatch hgnc.symbol:PLPPR3 semapv:UnspecifiedMatching OMIM:610391 PLPPR3 skos:exactMatch ncbigene:79948 semapv:UnspecifiedMatching -OMIM:610392 MYCBP2 skos:exactMatch hgnc:MYCBP2 semapv:UnspecifiedMatching +OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:23386 semapv:UnspecifiedMatching +OMIM:610392 MYCBP2 skos:exactMatch hgnc.symbol:MYCBP2 semapv:UnspecifiedMatching OMIM:610392 MYCBP2 skos:exactMatch ncbigene:23077 semapv:UnspecifiedMatching -OMIM:610393 GON4L skos:exactMatch hgnc:GON4L semapv:UnspecifiedMatching +OMIM:610393 GON4L skos:exactMatch hgnc.symbol:25973 semapv:UnspecifiedMatching +OMIM:610393 GON4L skos:exactMatch hgnc.symbol:GON4L semapv:UnspecifiedMatching OMIM:610393 GON4L skos:exactMatch ncbigene:54856 semapv:UnspecifiedMatching -OMIM:610394 GLIPR1L2 skos:exactMatch hgnc:GLIPR1L2 semapv:UnspecifiedMatching +OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:28592 semapv:UnspecifiedMatching +OMIM:610394 GLIPR1L2 skos:exactMatch hgnc.symbol:GLIPR1L2 semapv:UnspecifiedMatching OMIM:610394 GLIPR1L2 skos:exactMatch ncbigene:144321 semapv:UnspecifiedMatching -OMIM:610395 GLIPR1L1 skos:exactMatch hgnc:GLIPR1L1 semapv:UnspecifiedMatching +OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:28392 semapv:UnspecifiedMatching +OMIM:610395 GLIPR1L1 skos:exactMatch hgnc.symbol:GLIPR1L1 semapv:UnspecifiedMatching OMIM:610395 GLIPR1L1 skos:exactMatch ncbigene:256710 semapv:UnspecifiedMatching OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C1427890 semapv:UnspecifiedMatching OMIM:610396 TRAPPC6A skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610396 TRAPPC6A skos:exactMatch hgnc:TRAPPC6A semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:23069 semapv:UnspecifiedMatching +OMIM:610396 TRAPPC6A skos:exactMatch hgnc.symbol:TRAPPC6A semapv:UnspecifiedMatching OMIM:610396 TRAPPC6A skos:exactMatch ncbigene:79090 semapv:UnspecifiedMatching -OMIM:610397 TRAPPC6B skos:exactMatch hgnc:TRAPPC6B semapv:UnspecifiedMatching +OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:23066 semapv:UnspecifiedMatching +OMIM:610397 TRAPPC6B skos:exactMatch hgnc.symbol:TRAPPC6B semapv:UnspecifiedMatching OMIM:610397 TRAPPC6B skos:exactMatch ncbigene:122553 semapv:UnspecifiedMatching -OMIM:610398 SAP30L skos:exactMatch hgnc:SAP30L semapv:UnspecifiedMatching +OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:25663 semapv:UnspecifiedMatching +OMIM:610398 SAP30L skos:exactMatch hgnc.symbol:SAP30L semapv:UnspecifiedMatching OMIM:610398 SAP30L skos:exactMatch ncbigene:79685 semapv:UnspecifiedMatching -OMIM:610399 TMPRSS11E skos:exactMatch hgnc:TMPRSS11E semapv:UnspecifiedMatching +OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:24465 semapv:UnspecifiedMatching +OMIM:610399 TMPRSS11E skos:exactMatch hgnc.symbol:TMPRSS11E semapv:UnspecifiedMatching OMIM:610399 TMPRSS11E skos:exactMatch ncbigene:28983 semapv:UnspecifiedMatching -OMIM:610400 MACROD1 skos:exactMatch hgnc:MACROD1 semapv:UnspecifiedMatching +OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:29598 semapv:UnspecifiedMatching +OMIM:610400 MACROD1 skos:exactMatch hgnc.symbol:MACROD1 semapv:UnspecifiedMatching OMIM:610400 MACROD1 skos:exactMatch ncbigene:28992 semapv:UnspecifiedMatching -OMIM:610401 NTN4 skos:exactMatch hgnc:NTN4 semapv:UnspecifiedMatching +OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:13658 semapv:UnspecifiedMatching +OMIM:610401 NTN4 skos:exactMatch hgnc.symbol:NTN4 semapv:UnspecifiedMatching OMIM:610401 NTN4 skos:exactMatch ncbigene:59277 semapv:UnspecifiedMatching -OMIM:610403 CAND2 skos:exactMatch hgnc:CAND2 semapv:UnspecifiedMatching +OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:30689 semapv:UnspecifiedMatching +OMIM:610403 CAND2 skos:exactMatch hgnc.symbol:CAND2 semapv:UnspecifiedMatching OMIM:610403 CAND2 skos:exactMatch ncbigene:23066 semapv:UnspecifiedMatching -OMIM:610404 RMI1 skos:exactMatch hgnc:RMI1 semapv:UnspecifiedMatching +OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:25764 semapv:UnspecifiedMatching +OMIM:610404 RMI1 skos:exactMatch hgnc.symbol:RMI1 semapv:UnspecifiedMatching OMIM:610404 RMI1 skos:exactMatch ncbigene:80010 semapv:UnspecifiedMatching -OMIM:610405 CHPF skos:exactMatch hgnc:CHPF semapv:UnspecifiedMatching +OMIM:610405 CHPF skos:exactMatch hgnc.symbol:24291 semapv:UnspecifiedMatching +OMIM:610405 CHPF skos:exactMatch hgnc.symbol:CHPF semapv:UnspecifiedMatching OMIM:610405 CHPF skos:exactMatch ncbigene:79586 semapv:UnspecifiedMatching -OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc:TRR-TCT2-1 semapv:UnspecifiedMatching +OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:12343 semapv:UnspecifiedMatching +OMIM:610406 TRR-TCT2-1 skos:exactMatch hgnc.symbol:TRR-TCT2-1 semapv:UnspecifiedMatching OMIM:610406 TRR-TCT2-1 skos:exactMatch ncbigene:7230 semapv:UnspecifiedMatching OMIM:610407 TRG-GCC2-6 skos:exactMatch UMLS:C1421118 semapv:UnspecifiedMatching -OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc:TRG-GCC2-6 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:12273 semapv:UnspecifiedMatching +OMIM:610407 TRG-GCC2-6 skos:exactMatch hgnc.symbol:TRG-GCC2-6 semapv:UnspecifiedMatching OMIM:610407 TRG-GCC2-6 skos:exactMatch ncbigene:7196 semapv:UnspecifiedMatching -OMIM:610408 SLC15A3 skos:exactMatch hgnc:SLC15A3 semapv:UnspecifiedMatching +OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:18068 semapv:UnspecifiedMatching +OMIM:610408 SLC15A3 skos:exactMatch hgnc.symbol:SLC15A3 semapv:UnspecifiedMatching OMIM:610408 SLC15A3 skos:exactMatch ncbigene:51296 semapv:UnspecifiedMatching -OMIM:610409 SLC16A8 skos:exactMatch hgnc:SLC16A8 semapv:UnspecifiedMatching +OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:16270 semapv:UnspecifiedMatching +OMIM:610409 SLC16A8 skos:exactMatch hgnc.symbol:SLC16A8 semapv:UnspecifiedMatching OMIM:610409 SLC16A8 skos:exactMatch ncbigene:23539 semapv:UnspecifiedMatching -OMIM:610410 DHRS1 skos:exactMatch hgnc:DHRS1 semapv:UnspecifiedMatching +OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:16445 semapv:UnspecifiedMatching +OMIM:610410 DHRS1 skos:exactMatch hgnc.symbol:DHRS1 semapv:UnspecifiedMatching OMIM:610410 DHRS1 skos:exactMatch ncbigene:115817 semapv:UnspecifiedMatching -OMIM:610411 IPO13 skos:exactMatch hgnc:IPO13 semapv:UnspecifiedMatching +OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:16853 semapv:UnspecifiedMatching +OMIM:610411 IPO13 skos:exactMatch hgnc.symbol:IPO13 semapv:UnspecifiedMatching OMIM:610411 IPO13 skos:exactMatch ncbigene:9670 semapv:UnspecifiedMatching -OMIM:610412 SPTSSB skos:exactMatch hgnc:SPTSSB semapv:UnspecifiedMatching +OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:24045 semapv:UnspecifiedMatching +OMIM:610412 SPTSSB skos:exactMatch hgnc.symbol:SPTSSB semapv:UnspecifiedMatching OMIM:610412 SPTSSB skos:exactMatch ncbigene:165679 semapv:UnspecifiedMatching -OMIM:610413 IGFBPL1 skos:exactMatch hgnc:IGFBPL1 semapv:UnspecifiedMatching +OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:20081 semapv:UnspecifiedMatching +OMIM:610413 IGFBPL1 skos:exactMatch hgnc.symbol:IGFBPL1 semapv:UnspecifiedMatching OMIM:610413 IGFBPL1 skos:exactMatch ncbigene:347252 semapv:UnspecifiedMatching -OMIM:610414 NBPF15 skos:exactMatch hgnc:NBPF15 semapv:UnspecifiedMatching +OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:28791 semapv:UnspecifiedMatching +OMIM:610414 NBPF15 skos:exactMatch hgnc.symbol:NBPF15 semapv:UnspecifiedMatching OMIM:610414 NBPF15 skos:exactMatch ncbigene:284565 semapv:UnspecifiedMatching -OMIM:610415 STXBP4 skos:exactMatch hgnc:STXBP4 semapv:UnspecifiedMatching +OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:19694 semapv:UnspecifiedMatching +OMIM:610415 STXBP4 skos:exactMatch hgnc.symbol:STXBP4 semapv:UnspecifiedMatching OMIM:610415 STXBP4 skos:exactMatch ncbigene:252983 semapv:UnspecifiedMatching -OMIM:610416 SCAND1 skos:exactMatch hgnc:SCAND1 semapv:UnspecifiedMatching +OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:10566 semapv:UnspecifiedMatching +OMIM:610416 SCAND1 skos:exactMatch hgnc.symbol:SCAND1 semapv:UnspecifiedMatching OMIM:610416 SCAND1 skos:exactMatch ncbigene:51282 semapv:UnspecifiedMatching -OMIM:610417 SCAND2 skos:exactMatch hgnc:SCAND2P semapv:UnspecifiedMatching +OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:10567 semapv:UnspecifiedMatching +OMIM:610417 SCAND2 skos:exactMatch hgnc.symbol:SCAND2P semapv:UnspecifiedMatching OMIM:610417 SCAND2 skos:exactMatch ncbigene:54581 semapv:UnspecifiedMatching -OMIM:610418 WDFY2 skos:exactMatch hgnc:WDFY2 semapv:UnspecifiedMatching +OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:20482 semapv:UnspecifiedMatching +OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:WDFY2 semapv:UnspecifiedMatching OMIM:610418 WDFY2 skos:exactMatch ncbigene:115825 semapv:UnspecifiedMatching -OMIM:610421 KHDRBS3 skos:exactMatch hgnc:KHDRBS3 semapv:UnspecifiedMatching +OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:18117 semapv:UnspecifiedMatching +OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:KHDRBS3 semapv:UnspecifiedMatching OMIM:610421 KHDRBS3 skos:exactMatch ncbigene:10656 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch UMLS:C1538564 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching -OMIM:610423 PACS2 skos:exactMatch hgnc:PACS2 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:23794 semapv:UnspecifiedMatching +OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:PACS2 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch ncbigene:23241 semapv:UnspecifiedMatching +OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch UMLS:C4041558 semapv:UnspecifiedMatching -OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive skos:exactMatch orphanet.ordo:215 semapv:UnspecifiedMatching -OMIM:610428 COX18 skos:exactMatch hgnc:COX18 semapv:UnspecifiedMatching +OMIM:610428 COX18 skos:exactMatch hgnc.symbol:26801 semapv:UnspecifiedMatching +OMIM:610428 COX18 skos:exactMatch hgnc.symbol:COX18 semapv:UnspecifiedMatching OMIM:610428 COX18 skos:exactMatch ncbigene:285521 semapv:UnspecifiedMatching -OMIM:610429 COX19 skos:exactMatch hgnc:COX19 semapv:UnspecifiedMatching +OMIM:610429 COX19 skos:exactMatch hgnc.symbol:28074 semapv:UnspecifiedMatching +OMIM:610429 COX19 skos:exactMatch hgnc.symbol:COX19 semapv:UnspecifiedMatching OMIM:610429 COX19 skos:exactMatch ncbigene:90639 semapv:UnspecifiedMatching -OMIM:610431 RNF167 skos:exactMatch hgnc:RNF167 semapv:UnspecifiedMatching +OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:24544 semapv:UnspecifiedMatching +OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:RNF167 semapv:UnspecifiedMatching OMIM:610431 RNF167 skos:exactMatch ncbigene:26001 semapv:UnspecifiedMatching -OMIM:610432 RNF125 skos:exactMatch hgnc:RNF125 semapv:UnspecifiedMatching +OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:21150 semapv:UnspecifiedMatching +OMIM:610432 RNF125 skos:exactMatch hgnc.symbol:RNF125 semapv:UnspecifiedMatching OMIM:610432 RNF125 skos:exactMatch ncbigene:54941 semapv:UnspecifiedMatching -OMIM:610433 LY6G5B skos:exactMatch hgnc:LY6G5B semapv:UnspecifiedMatching +OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:13931 semapv:UnspecifiedMatching +OMIM:610433 LY6G5B skos:exactMatch hgnc.symbol:LY6G5B semapv:UnspecifiedMatching OMIM:610433 LY6G5B skos:exactMatch ncbigene:58496 semapv:UnspecifiedMatching -OMIM:610434 LY6G5C skos:exactMatch hgnc:LY6G5C semapv:UnspecifiedMatching +OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:13932 semapv:UnspecifiedMatching +OMIM:610434 LY6G5C skos:exactMatch hgnc.symbol:LY6G5C semapv:UnspecifiedMatching OMIM:610434 LY6G5C skos:exactMatch ncbigene:80741 semapv:UnspecifiedMatching -OMIM:610435 LY6G6C skos:exactMatch hgnc:LY6G6C semapv:UnspecifiedMatching +OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:13936 semapv:UnspecifiedMatching +OMIM:610435 LY6G6C skos:exactMatch hgnc.symbol:LY6G6C semapv:UnspecifiedMatching OMIM:610435 LY6G6C skos:exactMatch ncbigene:80740 semapv:UnspecifiedMatching -OMIM:610436 RTTN skos:exactMatch hgnc:RTTN semapv:UnspecifiedMatching +OMIM:610436 RTTN skos:exactMatch hgnc.symbol:18654 semapv:UnspecifiedMatching +OMIM:610436 RTTN skos:exactMatch hgnc.symbol:RTTN semapv:UnspecifiedMatching OMIM:610436 RTTN skos:exactMatch ncbigene:25914 semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch UMLS:C1422282 semapv:UnspecifiedMatching -OMIM:610437 LY6G6E skos:exactMatch hgnc:LY6G6E semapv:UnspecifiedMatching +OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:13934 semapv:UnspecifiedMatching +OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:LY6G6E semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch ncbigene:79136 semapv:UnspecifiedMatching -OMIM:610440 SGSM3 skos:exactMatch hgnc:SGSM3 semapv:UnspecifiedMatching +OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:25228 semapv:UnspecifiedMatching +OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:SGSM3 semapv:UnspecifiedMatching OMIM:610440 SGSM3 skos:exactMatch ncbigene:27352 semapv:UnspecifiedMatching +OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:363958 semapv:UnspecifiedMatching +OMIM:610443 koolen-de vries syndrome skos:exactMatch Orphanet:96169 semapv:UnspecifiedMatching OMIM:610443 koolen-de vries syndrome skos:exactMatch UMLS:C1864871 semapv:UnspecifiedMatching -OMIM:610443 koolen-de vries syndrome skos:exactMatch orphanet.ordo:363958 semapv:UnspecifiedMatching -OMIM:610443 koolen-de vries syndrome skos:exactMatch orphanet.ordo:96169 semapv:UnspecifiedMatching -OMIM:610447 SPRN skos:exactMatch hgnc:SPRN semapv:UnspecifiedMatching +OMIM:610447 SPRN skos:exactMatch hgnc.symbol:16871 semapv:UnspecifiedMatching +OMIM:610447 SPRN skos:exactMatch hgnc.symbol:SPRN semapv:UnspecifiedMatching OMIM:610447 SPRN skos:exactMatch ncbigene:503542 semapv:UnspecifiedMatching -OMIM:610449 MTCH1 skos:exactMatch hgnc:MTCH1 semapv:UnspecifiedMatching +OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:17586 semapv:UnspecifiedMatching +OMIM:610449 MTCH1 skos:exactMatch hgnc.symbol:MTCH1 semapv:UnspecifiedMatching OMIM:610449 MTCH1 skos:exactMatch ncbigene:23787 semapv:UnspecifiedMatching -OMIM:610450 LYPD1 skos:exactMatch hgnc:LYPD1 semapv:UnspecifiedMatching +OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:28431 semapv:UnspecifiedMatching +OMIM:610450 LYPD1 skos:exactMatch hgnc.symbol:LYPD1 semapv:UnspecifiedMatching OMIM:610450 LYPD1 skos:exactMatch ncbigene:116372 semapv:UnspecifiedMatching -OMIM:610451 LRRC35 skos:exactMatch hgnc:TBCEL semapv:UnspecifiedMatching +OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:28115 semapv:UnspecifiedMatching +OMIM:610451 LRRC35 skos:exactMatch hgnc.symbol:TBCEL semapv:UnspecifiedMatching OMIM:610451 LRRC35 skos:exactMatch ncbigene:219899 semapv:UnspecifiedMatching -OMIM:610453 HGSNAT skos:exactMatch hgnc:HGSNAT semapv:UnspecifiedMatching +OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:26527 semapv:UnspecifiedMatching +OMIM:610453 HGSNAT skos:exactMatch hgnc.symbol:HGSNAT semapv:UnspecifiedMatching OMIM:610453 HGSNAT skos:exactMatch ncbigene:138050 semapv:UnspecifiedMatching -OMIM:610454 LZTS2 skos:exactMatch hgnc:LZTS2 semapv:UnspecifiedMatching +OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:29381 semapv:UnspecifiedMatching +OMIM:610454 LZTS2 skos:exactMatch hgnc.symbol:LZTS2 semapv:UnspecifiedMatching OMIM:610454 LZTS2 skos:exactMatch ncbigene:84445 semapv:UnspecifiedMatching +OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:306658 semapv:UnspecifiedMatching +OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch Orphanet:53715 semapv:UnspecifiedMatching OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching -OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch orphanet.ordo:306658 semapv:UnspecifiedMatching -OMIM:610455 tumoral calcinosis, normophosphatemic, familial skos:exactMatch orphanet.ordo:53715 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch UMLS:C1539722 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch UMLS:C1864861 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching -OMIM:610456 SAMD9 skos:exactMatch hgnc:SAMD9 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:1348 semapv:UnspecifiedMatching +OMIM:610456 SAMD9 skos:exactMatch hgnc.symbol:SAMD9 semapv:UnspecifiedMatching OMIM:610456 SAMD9 skos:exactMatch ncbigene:54809 semapv:UnspecifiedMatching -OMIM:610457 SMPD4 skos:exactMatch hgnc:SMPD4 semapv:UnspecifiedMatching +OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:32949 semapv:UnspecifiedMatching +OMIM:610457 SMPD4 skos:exactMatch hgnc.symbol:SMPD4 semapv:UnspecifiedMatching OMIM:610457 SMPD4 skos:exactMatch ncbigene:55627 semapv:UnspecifiedMatching -OMIM:610458 LZIC skos:exactMatch hgnc:LZIC semapv:UnspecifiedMatching +OMIM:610458 LZIC skos:exactMatch hgnc.symbol:17497 semapv:UnspecifiedMatching +OMIM:610458 LZIC skos:exactMatch hgnc.symbol:LZIC semapv:UnspecifiedMatching OMIM:610458 LZIC skos:exactMatch ncbigene:84328 semapv:UnspecifiedMatching -OMIM:610459 PRR13 skos:exactMatch hgnc:PRR13 semapv:UnspecifiedMatching +OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:24528 semapv:UnspecifiedMatching +OMIM:610459 PRR13 skos:exactMatch hgnc.symbol:PRR13 semapv:UnspecifiedMatching OMIM:610459 PRR13 skos:exactMatch ncbigene:54458 semapv:UnspecifiedMatching -OMIM:610461 RTN4RL1 skos:exactMatch hgnc:RTN4RL1 semapv:UnspecifiedMatching +OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:21329 semapv:UnspecifiedMatching +OMIM:610461 RTN4RL1 skos:exactMatch hgnc.symbol:RTN4RL1 semapv:UnspecifiedMatching OMIM:610461 RTN4RL1 skos:exactMatch ncbigene:146760 semapv:UnspecifiedMatching -OMIM:610462 RTN4RL2 skos:exactMatch hgnc:RTN4RL2 semapv:UnspecifiedMatching +OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:23053 semapv:UnspecifiedMatching +OMIM:610462 RTN4RL2 skos:exactMatch hgnc.symbol:RTN4RL2 semapv:UnspecifiedMatching OMIM:610462 RTN4RL2 skos:exactMatch ncbigene:349667 semapv:UnspecifiedMatching -OMIM:610463 NUS1 skos:exactMatch hgnc:NUS1 semapv:UnspecifiedMatching +OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:21042 semapv:UnspecifiedMatching +OMIM:610463 NUS1 skos:exactMatch hgnc.symbol:NUS1 semapv:UnspecifiedMatching OMIM:610463 NUS1 skos:exactMatch ncbigene:116150 semapv:UnspecifiedMatching -OMIM:610464 GPR156 skos:exactMatch hgnc:GPR156 semapv:UnspecifiedMatching +OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:20844 semapv:UnspecifiedMatching +OMIM:610464 GPR156 skos:exactMatch hgnc.symbol:GPR156 semapv:UnspecifiedMatching OMIM:610464 GPR156 skos:exactMatch ncbigene:165829 semapv:UnspecifiedMatching -OMIM:610465 ACSF2 skos:exactMatch hgnc:ACSF2 semapv:UnspecifiedMatching +OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:26101 semapv:UnspecifiedMatching +OMIM:610465 ACSF2 skos:exactMatch hgnc.symbol:ACSF2 semapv:UnspecifiedMatching OMIM:610465 ACSF2 skos:exactMatch ncbigene:80221 semapv:UnspecifiedMatching OMIM:610466 LIX1 skos:exactMatch UMLS:C1537580 semapv:UnspecifiedMatching -OMIM:610466 LIX1 skos:exactMatch hgnc:LIX1 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:18581 semapv:UnspecifiedMatching +OMIM:610466 LIX1 skos:exactMatch hgnc.symbol:LIX1 semapv:UnspecifiedMatching OMIM:610466 LIX1 skos:exactMatch ncbigene:167410 semapv:UnspecifiedMatching -OMIM:610467 HACD1 skos:exactMatch hgnc:HACD1 semapv:UnspecifiedMatching +OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:9639 semapv:UnspecifiedMatching +OMIM:610467 HACD1 skos:exactMatch hgnc.symbol:HACD1 semapv:UnspecifiedMatching OMIM:610467 HACD1 skos:exactMatch ncbigene:9200 semapv:UnspecifiedMatching -OMIM:610468 IFI44 skos:exactMatch hgnc:IFI44 semapv:UnspecifiedMatching +OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:16938 semapv:UnspecifiedMatching +OMIM:610468 IFI44 skos:exactMatch hgnc.symbol:IFI44 semapv:UnspecifiedMatching OMIM:610468 IFI44 skos:exactMatch ncbigene:10561 semapv:UnspecifiedMatching -OMIM:610469 AP3M2 skos:exactMatch hgnc:AP3M2 semapv:UnspecifiedMatching +OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:570 semapv:UnspecifiedMatching +OMIM:610469 AP3M2 skos:exactMatch hgnc.symbol:AP3M2 semapv:UnspecifiedMatching OMIM:610469 AP3M2 skos:exactMatch ncbigene:10947 semapv:UnspecifiedMatching -OMIM:610470 TRPT1 skos:exactMatch hgnc:TRPT1 semapv:UnspecifiedMatching +OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:20316 semapv:UnspecifiedMatching +OMIM:610470 TRPT1 skos:exactMatch hgnc.symbol:TRPT1 semapv:UnspecifiedMatching OMIM:610470 TRPT1 skos:exactMatch ncbigene:83707 semapv:UnspecifiedMatching -OMIM:610471 VASH2 skos:exactMatch hgnc:VASH2 semapv:UnspecifiedMatching +OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:25723 semapv:UnspecifiedMatching +OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:VASH2 semapv:UnspecifiedMatching OMIM:610471 VASH2 skos:exactMatch ncbigene:79805 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch hgnc:LPCAT1 semapv:UnspecifiedMatching +OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:25718 semapv:UnspecifiedMatching +OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:LPCAT1 semapv:UnspecifiedMatching OMIM:610472 AYTL2 skos:exactMatch ncbigene:79888 semapv:UnspecifiedMatching -OMIM:610473 LPGAT1 skos:exactMatch hgnc:LPGAT1 semapv:UnspecifiedMatching +OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:28985 semapv:UnspecifiedMatching +OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:LPGAT1 semapv:UnspecifiedMatching OMIM:610473 LPGAT1 skos:exactMatch ncbigene:9926 semapv:UnspecifiedMatching -OMIM:610477 TMPRSS9 skos:exactMatch hgnc:TMPRSS9 semapv:UnspecifiedMatching +OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:30079 semapv:UnspecifiedMatching +OMIM:610477 TMPRSS9 skos:exactMatch hgnc.symbol:TMPRSS9 semapv:UnspecifiedMatching OMIM:610477 TMPRSS9 skos:exactMatch ncbigene:360200 semapv:UnspecifiedMatching -OMIM:610479 SRFBP1 skos:exactMatch hgnc:SRFBP1 semapv:UnspecifiedMatching +OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:26333 semapv:UnspecifiedMatching +OMIM:610479 SRFBP1 skos:exactMatch hgnc.symbol:SRFBP1 semapv:UnspecifiedMatching OMIM:610479 SRFBP1 skos:exactMatch ncbigene:153443 semapv:UnspecifiedMatching -OMIM:610480 LEMD1 skos:exactMatch hgnc:LEMD1 semapv:UnspecifiedMatching +OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:18725 semapv:UnspecifiedMatching +OMIM:610480 LEMD1 skos:exactMatch hgnc.symbol:LEMD1 semapv:UnspecifiedMatching OMIM:610480 LEMD1 skos:exactMatch ncbigene:93273 semapv:UnspecifiedMatching -OMIM:610481 SHD skos:exactMatch hgnc:SHD semapv:UnspecifiedMatching +OMIM:610481 SHD skos:exactMatch hgnc.symbol:30633 semapv:UnspecifiedMatching +OMIM:610481 SHD skos:exactMatch hgnc.symbol:SHD semapv:UnspecifiedMatching OMIM:610481 SHD skos:exactMatch ncbigene:56961 semapv:UnspecifiedMatching -OMIM:610482 SHE skos:exactMatch hgnc:SHE semapv:UnspecifiedMatching +OMIM:610482 SHE skos:exactMatch hgnc.symbol:27004 semapv:UnspecifiedMatching +OMIM:610482 SHE skos:exactMatch hgnc.symbol:SHE semapv:UnspecifiedMatching OMIM:610482 SHE skos:exactMatch ncbigene:126669 semapv:UnspecifiedMatching -OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc:LZTS3 semapv:UnspecifiedMatching +OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:30139 semapv:UnspecifiedMatching +OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch hgnc.symbol:LZTS3 semapv:UnspecifiedMatching OMIM:610484 proline-rich synapse-associated protein-interacting protein 1 skos:exactMatch ncbigene:9762 semapv:UnspecifiedMatching -OMIM:610485 LINC00312 skos:exactMatch hgnc:LINC00312 semapv:UnspecifiedMatching +OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:6662 semapv:UnspecifiedMatching +OMIM:610485 LINC00312 skos:exactMatch hgnc.symbol:LINC00312 semapv:UnspecifiedMatching OMIM:610485 LINC00312 skos:exactMatch ncbigene:29931 semapv:UnspecifiedMatching -OMIM:610486 LRRC4 skos:exactMatch hgnc:LRRC4 semapv:UnspecifiedMatching +OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:15586 semapv:UnspecifiedMatching +OMIM:610486 LRRC4 skos:exactMatch hgnc.symbol:LRRC4 semapv:UnspecifiedMatching OMIM:610486 LRRC4 skos:exactMatch ncbigene:64101 semapv:UnspecifiedMatching -OMIM:610487 KHDRBS2 skos:exactMatch hgnc:KHDRBS2 semapv:UnspecifiedMatching +OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:18114 semapv:UnspecifiedMatching +OMIM:610487 KHDRBS2 skos:exactMatch hgnc.symbol:KHDRBS2 semapv:UnspecifiedMatching OMIM:610487 KHDRBS2 skos:exactMatch ncbigene:202559 semapv:UnspecifiedMatching -OMIM:610488 TTC9 skos:exactMatch hgnc:TTC9 semapv:UnspecifiedMatching +OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:20267 semapv:UnspecifiedMatching +OMIM:610488 TTC9 skos:exactMatch hgnc.symbol:TTC9 semapv:UnspecifiedMatching OMIM:610488 TTC9 skos:exactMatch ncbigene:23508 semapv:UnspecifiedMatching -OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc:ACP7 semapv:UnspecifiedMatching +OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:33781 semapv:UnspecifiedMatching +OMIM:610490 purple acid phosphatase, long form skos:exactMatch hgnc.symbol:ACP7 semapv:UnspecifiedMatching OMIM:610490 purple acid phosphatase, long form skos:exactMatch ncbigene:390928 semapv:UnspecifiedMatching -OMIM:610491 SLAIN1 skos:exactMatch hgnc:SLAIN1 semapv:UnspecifiedMatching +OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:26387 semapv:UnspecifiedMatching +OMIM:610491 SLAIN1 skos:exactMatch hgnc.symbol:SLAIN1 semapv:UnspecifiedMatching OMIM:610491 SLAIN1 skos:exactMatch ncbigene:122060 semapv:UnspecifiedMatching -OMIM:610492 SLAIN2 skos:exactMatch hgnc:SLAIN2 semapv:UnspecifiedMatching +OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:29282 semapv:UnspecifiedMatching +OMIM:610492 SLAIN2 skos:exactMatch hgnc.symbol:SLAIN2 semapv:UnspecifiedMatching OMIM:610492 SLAIN2 skos:exactMatch ncbigene:57606 semapv:UnspecifiedMatching -OMIM:610493 DIXDC1 skos:exactMatch hgnc:DIXDC1 semapv:UnspecifiedMatching +OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:23695 semapv:UnspecifiedMatching +OMIM:610493 DIXDC1 skos:exactMatch hgnc.symbol:DIXDC1 semapv:UnspecifiedMatching OMIM:610493 DIXDC1 skos:exactMatch ncbigene:85458 semapv:UnspecifiedMatching -OMIM:610494 DCAF6 skos:exactMatch hgnc:DCAF6 semapv:UnspecifiedMatching +OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:30002 semapv:UnspecifiedMatching +OMIM:610494 DCAF6 skos:exactMatch hgnc.symbol:DCAF6 semapv:UnspecifiedMatching OMIM:610494 DCAF6 skos:exactMatch ncbigene:55827 semapv:UnspecifiedMatching -OMIM:610495 IFFO1 skos:exactMatch hgnc:IFFO1 semapv:UnspecifiedMatching +OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:24970 semapv:UnspecifiedMatching +OMIM:610495 IFFO1 skos:exactMatch hgnc.symbol:IFFO1 semapv:UnspecifiedMatching OMIM:610495 IFFO1 skos:exactMatch ncbigene:25900 semapv:UnspecifiedMatching -OMIM:610496 ARHGAP29 skos:exactMatch hgnc:ARHGAP29 semapv:UnspecifiedMatching +OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:30207 semapv:UnspecifiedMatching +OMIM:610496 ARHGAP29 skos:exactMatch hgnc.symbol:ARHGAP29 semapv:UnspecifiedMatching OMIM:610496 ARHGAP29 skos:exactMatch ncbigene:9411 semapv:UnspecifiedMatching -OMIM:610497 BRE skos:exactMatch hgnc:BABAM2 semapv:UnspecifiedMatching +OMIM:610497 BRE skos:exactMatch hgnc.symbol:1106 semapv:UnspecifiedMatching +OMIM:610497 BRE skos:exactMatch hgnc.symbol:BABAM2 semapv:UnspecifiedMatching OMIM:610497 BRE skos:exactMatch ncbigene:9577 semapv:UnspecifiedMatching -OMIM:610499 RAPGEF6 skos:exactMatch hgnc:RAPGEF6 semapv:UnspecifiedMatching +OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:20655 semapv:UnspecifiedMatching +OMIM:610499 RAPGEF6 skos:exactMatch hgnc.symbol:RAPGEF6 semapv:UnspecifiedMatching OMIM:610499 RAPGEF6 skos:exactMatch ncbigene:51735 semapv:UnspecifiedMatching -OMIM:610500 ANKHD1 skos:exactMatch hgnc:ANKHD1 semapv:UnspecifiedMatching +OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:24714 semapv:UnspecifiedMatching +OMIM:610500 ANKHD1 skos:exactMatch hgnc.symbol:ANKHD1 semapv:UnspecifiedMatching OMIM:610500 ANKHD1 skos:exactMatch ncbigene:54882 semapv:UnspecifiedMatching -OMIM:610501 NBPF1 skos:exactMatch hgnc:NBPF1 semapv:UnspecifiedMatching +OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:26088 semapv:UnspecifiedMatching +OMIM:610501 NBPF1 skos:exactMatch hgnc.symbol:NBPF1 semapv:UnspecifiedMatching OMIM:610501 NBPF1 skos:exactMatch ncbigene:55672 semapv:UnspecifiedMatching -OMIM:610502 RTN4IP1 skos:exactMatch hgnc:RTN4IP1 semapv:UnspecifiedMatching +OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:18647 semapv:UnspecifiedMatching +OMIM:610502 RTN4IP1 skos:exactMatch hgnc.symbol:RTN4IP1 semapv:UnspecifiedMatching OMIM:610502 RTN4IP1 skos:exactMatch ncbigene:84816 semapv:UnspecifiedMatching -OMIM:610503 CDIP1 skos:exactMatch hgnc:CDIP1 semapv:UnspecifiedMatching +OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:13234 semapv:UnspecifiedMatching +OMIM:610503 CDIP1 skos:exactMatch hgnc.symbol:CDIP1 semapv:UnspecifiedMatching OMIM:610503 CDIP1 skos:exactMatch ncbigene:29965 semapv:UnspecifiedMatching -OMIM:610506 PAF1 skos:exactMatch hgnc:PAF1 semapv:UnspecifiedMatching +OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:25459 semapv:UnspecifiedMatching +OMIM:610506 PAF1 skos:exactMatch hgnc.symbol:PAF1 semapv:UnspecifiedMatching OMIM:610506 PAF1 skos:exactMatch ncbigene:54623 semapv:UnspecifiedMatching -OMIM:610507 LEO1 skos:exactMatch hgnc:LEO1 semapv:UnspecifiedMatching +OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:30401 semapv:UnspecifiedMatching +OMIM:610507 LEO1 skos:exactMatch hgnc.symbol:LEO1 semapv:UnspecifiedMatching OMIM:610507 LEO1 skos:exactMatch ncbigene:123169 semapv:UnspecifiedMatching -OMIM:610509 RIC3 skos:exactMatch hgnc:RIC3 semapv:UnspecifiedMatching +OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:30338 semapv:UnspecifiedMatching +OMIM:610509 RIC3 skos:exactMatch hgnc.symbol:RIC3 semapv:UnspecifiedMatching OMIM:610509 RIC3 skos:exactMatch ncbigene:79608 semapv:UnspecifiedMatching -OMIM:610510 BORA skos:exactMatch hgnc:BORA semapv:UnspecifiedMatching +OMIM:610510 BORA skos:exactMatch hgnc.symbol:24724 semapv:UnspecifiedMatching +OMIM:610510 BORA skos:exactMatch hgnc.symbol:BORA semapv:UnspecifiedMatching OMIM:610510 BORA skos:exactMatch ncbigene:79866 semapv:UnspecifiedMatching -OMIM:610511 SEC23A skos:exactMatch hgnc:SEC23A semapv:UnspecifiedMatching +OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:10701 semapv:UnspecifiedMatching +OMIM:610511 SEC23A skos:exactMatch hgnc.symbol:SEC23A semapv:UnspecifiedMatching OMIM:610511 SEC23A skos:exactMatch ncbigene:10484 semapv:UnspecifiedMatching -OMIM:610512 SEC23B skos:exactMatch hgnc:SEC23B semapv:UnspecifiedMatching +OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:10702 semapv:UnspecifiedMatching +OMIM:610512 SEC23B skos:exactMatch hgnc.symbol:SEC23B semapv:UnspecifiedMatching OMIM:610512 SEC23B skos:exactMatch ncbigene:10483 semapv:UnspecifiedMatching OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1540215 semapv:UnspecifiedMatching OMIM:610513 ATP13A2 skos:exactMatch UMLS:C1847640 semapv:UnspecifiedMatching OMIM:610513 ATP13A2 skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching -OMIM:610513 ATP13A2 skos:exactMatch hgnc:ATP13A2 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:30213 semapv:UnspecifiedMatching +OMIM:610513 ATP13A2 skos:exactMatch hgnc.symbol:ATP13A2 semapv:UnspecifiedMatching OMIM:610513 ATP13A2 skos:exactMatch ncbigene:23400 semapv:UnspecifiedMatching -OMIM:610514 PHF17 skos:exactMatch hgnc:JADE1 semapv:UnspecifiedMatching +OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:30027 semapv:UnspecifiedMatching +OMIM:610514 PHF17 skos:exactMatch hgnc.symbol:JADE1 semapv:UnspecifiedMatching OMIM:610514 PHF17 skos:exactMatch ncbigene:79960 semapv:UnspecifiedMatching -OMIM:610515 PHF15 skos:exactMatch hgnc:JADE2 semapv:UnspecifiedMatching +OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:22984 semapv:UnspecifiedMatching +OMIM:610515 PHF15 skos:exactMatch hgnc.symbol:JADE2 semapv:UnspecifiedMatching OMIM:610515 PHF15 skos:exactMatch ncbigene:23338 semapv:UnspecifiedMatching -OMIM:610516 GLYCTK skos:exactMatch hgnc:GLYCTK semapv:UnspecifiedMatching +OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:24247 semapv:UnspecifiedMatching +OMIM:610516 GLYCTK skos:exactMatch hgnc.symbol:GLYCTK semapv:UnspecifiedMatching OMIM:610516 GLYCTK skos:exactMatch ncbigene:132158 semapv:UnspecifiedMatching -OMIM:610517 CNTNAP3 skos:exactMatch hgnc:CNTNAP3 semapv:UnspecifiedMatching +OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:13834 semapv:UnspecifiedMatching +OMIM:610517 CNTNAP3 skos:exactMatch hgnc.symbol:CNTNAP3 semapv:UnspecifiedMatching OMIM:610517 CNTNAP3 skos:exactMatch ncbigene:79937 semapv:UnspecifiedMatching -OMIM:610518 CNTNAP4 skos:exactMatch hgnc:CNTNAP4 semapv:UnspecifiedMatching +OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:18747 semapv:UnspecifiedMatching +OMIM:610518 CNTNAP4 skos:exactMatch hgnc.symbol:CNTNAP4 semapv:UnspecifiedMatching OMIM:610518 CNTNAP4 skos:exactMatch ncbigene:85445 semapv:UnspecifiedMatching -OMIM:610519 CNTNAP5 skos:exactMatch hgnc:CNTNAP5 semapv:UnspecifiedMatching +OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:18748 semapv:UnspecifiedMatching +OMIM:610519 CNTNAP5 skos:exactMatch hgnc.symbol:CNTNAP5 semapv:UnspecifiedMatching OMIM:610519 CNTNAP5 skos:exactMatch ncbigene:129684 semapv:UnspecifiedMatching -OMIM:610520 CD300LG skos:exactMatch hgnc:CD300LG semapv:UnspecifiedMatching +OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:30455 semapv:UnspecifiedMatching +OMIM:610520 CD300LG skos:exactMatch hgnc.symbol:CD300LG semapv:UnspecifiedMatching OMIM:610520 CD300LG skos:exactMatch ncbigene:146894 semapv:UnspecifiedMatching -OMIM:610521 KCTD12 skos:exactMatch hgnc:KCTD12 semapv:UnspecifiedMatching +OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:14678 semapv:UnspecifiedMatching +OMIM:610521 KCTD12 skos:exactMatch hgnc.symbol:KCTD12 semapv:UnspecifiedMatching OMIM:610521 KCTD12 skos:exactMatch ncbigene:115207 semapv:UnspecifiedMatching -OMIM:610522 coordinated expression to irxa2 skos:exactMatch hgnc:IRX2-DT semapv:UnspecifiedMatching +OMIM:610522 coordinated expression to irxa2 skos:exactMatch hgnc.symbol:IRX2-DT semapv:UnspecifiedMatching OMIM:610522 coordinated expression to irxa2 skos:exactMatch ncbigene:153571 semapv:UnspecifiedMatching -OMIM:610523 CEP41 skos:exactMatch hgnc:CEP41 semapv:UnspecifiedMatching +OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:12370 semapv:UnspecifiedMatching +OMIM:610523 CEP41 skos:exactMatch hgnc.symbol:CEP41 semapv:UnspecifiedMatching OMIM:610523 CEP41 skos:exactMatch ncbigene:95681 semapv:UnspecifiedMatching -OMIM:610524 ERVFRD1 skos:exactMatch hgnc:ERVFRD-1 semapv:UnspecifiedMatching +OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:33823 semapv:UnspecifiedMatching +OMIM:610524 ERVFRD1 skos:exactMatch hgnc.symbol:ERVFRD-1 semapv:UnspecifiedMatching OMIM:610524 ERVFRD1 skos:exactMatch ncbigene:405754 semapv:UnspecifiedMatching -OMIM:610525 NT5C1A skos:exactMatch hgnc:NT5C1A semapv:UnspecifiedMatching +OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:17819 semapv:UnspecifiedMatching +OMIM:610525 NT5C1A skos:exactMatch hgnc.symbol:NT5C1A semapv:UnspecifiedMatching OMIM:610525 NT5C1A skos:exactMatch ncbigene:84618 semapv:UnspecifiedMatching -OMIM:610526 NT5C1B skos:exactMatch hgnc:NT5C1B semapv:UnspecifiedMatching +OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:17818 semapv:UnspecifiedMatching +OMIM:610526 NT5C1B skos:exactMatch hgnc.symbol:NT5C1B semapv:UnspecifiedMatching OMIM:610526 NT5C1B skos:exactMatch ncbigene:93034 semapv:UnspecifiedMatching -OMIM:610527 TXNDC1 skos:exactMatch hgnc:TMX1 semapv:UnspecifiedMatching +OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:15487 semapv:UnspecifiedMatching +OMIM:610527 TXNDC1 skos:exactMatch hgnc.symbol:TMX1 semapv:UnspecifiedMatching OMIM:610527 TXNDC1 skos:exactMatch ncbigene:81542 semapv:UnspecifiedMatching -OMIM:610528 CHD8 skos:exactMatch hgnc:CHD8 semapv:UnspecifiedMatching +OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:20153 semapv:UnspecifiedMatching +OMIM:610528 CHD8 skos:exactMatch hgnc.symbol:CHD8 semapv:UnspecifiedMatching OMIM:610528 CHD8 skos:exactMatch ncbigene:57680 semapv:UnspecifiedMatching -OMIM:610529 TUSC1 skos:exactMatch hgnc:TUSC1 semapv:UnspecifiedMatching +OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:31010 semapv:UnspecifiedMatching +OMIM:610529 TUSC1 skos:exactMatch hgnc.symbol:TUSC1 semapv:UnspecifiedMatching OMIM:610529 TUSC1 skos:exactMatch ncbigene:286319 semapv:UnspecifiedMatching -OMIM:610530 TRIM41 skos:exactMatch hgnc:TRIM41 semapv:UnspecifiedMatching +OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:19013 semapv:UnspecifiedMatching +OMIM:610530 TRIM41 skos:exactMatch hgnc.symbol:TRIM41 semapv:UnspecifiedMatching OMIM:610530 TRIM41 skos:exactMatch ncbigene:90933 semapv:UnspecifiedMatching -OMIM:610531 HYCC1 skos:exactMatch hgnc:HYCC1 semapv:UnspecifiedMatching +OMIM:610531 HYCC1 skos:exactMatch hgnc.symbol:HYCC1 semapv:UnspecifiedMatching OMIM:610531 HYCC1 skos:exactMatch ncbigene:84668 semapv:UnspecifiedMatching -OMIM:610533 WWC1 skos:exactMatch hgnc:WWC1 semapv:UnspecifiedMatching +OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:29435 semapv:UnspecifiedMatching +OMIM:610533 WWC1 skos:exactMatch hgnc.symbol:WWC1 semapv:UnspecifiedMatching OMIM:610533 WWC1 skos:exactMatch ncbigene:23286 semapv:UnspecifiedMatching -OMIM:610534 DCPS skos:exactMatch hgnc:DCPS semapv:UnspecifiedMatching +OMIM:610534 DCPS skos:exactMatch hgnc.symbol:29812 semapv:UnspecifiedMatching +OMIM:610534 DCPS skos:exactMatch hgnc.symbol:DCPS semapv:UnspecifiedMatching OMIM:610534 DCPS skos:exactMatch ncbigene:28960 semapv:UnspecifiedMatching -OMIM:610537 DPP7 skos:exactMatch hgnc:DPP7 semapv:UnspecifiedMatching +OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:14892 semapv:UnspecifiedMatching +OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:DPP7 semapv:UnspecifiedMatching OMIM:610537 DPP7 skos:exactMatch ncbigene:29952 semapv:UnspecifiedMatching -OMIM:610538 UBE2T skos:exactMatch hgnc:UBE2T semapv:UnspecifiedMatching +OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:25009 semapv:UnspecifiedMatching +OMIM:610538 UBE2T skos:exactMatch hgnc.symbol:UBE2T semapv:UnspecifiedMatching OMIM:610538 UBE2T skos:exactMatch ncbigene:29089 semapv:UnspecifiedMatching -OMIM:610540 GNASAS1 skos:exactMatch hgnc:GNAS-AS1 semapv:UnspecifiedMatching +OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:24872 semapv:UnspecifiedMatching +OMIM:610540 GNASAS1 skos:exactMatch hgnc.symbol:GNAS-AS1 semapv:UnspecifiedMatching OMIM:610540 GNASAS1 skos:exactMatch ncbigene:149775 semapv:UnspecifiedMatching -OMIM:610541 PPP1R3B skos:exactMatch hgnc:PPP1R3B semapv:UnspecifiedMatching +OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:14942 semapv:UnspecifiedMatching +OMIM:610541 PPP1R3B skos:exactMatch hgnc.symbol:PPP1R3B semapv:UnspecifiedMatching OMIM:610541 PPP1R3B skos:exactMatch ncbigene:79660 semapv:UnspecifiedMatching -OMIM:610544 IGFL1 skos:exactMatch hgnc:IGFL1 semapv:UnspecifiedMatching +OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:24093 semapv:UnspecifiedMatching +OMIM:610544 IGFL1 skos:exactMatch hgnc.symbol:IGFL1 semapv:UnspecifiedMatching OMIM:610544 IGFL1 skos:exactMatch ncbigene:374918 semapv:UnspecifiedMatching -OMIM:610545 IGFL2 skos:exactMatch hgnc:IGFL2 semapv:UnspecifiedMatching +OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:32929 semapv:UnspecifiedMatching +OMIM:610545 IGFL2 skos:exactMatch hgnc.symbol:IGFL2 semapv:UnspecifiedMatching OMIM:610545 IGFL2 skos:exactMatch ncbigene:147920 semapv:UnspecifiedMatching -OMIM:610546 IGFL3 skos:exactMatch hgnc:IGFL3 semapv:UnspecifiedMatching +OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:32930 semapv:UnspecifiedMatching +OMIM:610546 IGFL3 skos:exactMatch hgnc.symbol:IGFL3 semapv:UnspecifiedMatching OMIM:610546 IGFL3 skos:exactMatch ncbigene:388555 semapv:UnspecifiedMatching -OMIM:610547 IGFL4 skos:exactMatch hgnc:IGFL4 semapv:UnspecifiedMatching +OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:32931 semapv:UnspecifiedMatching +OMIM:610547 IGFL4 skos:exactMatch hgnc.symbol:IGFL4 semapv:UnspecifiedMatching OMIM:610547 IGFL4 skos:exactMatch ncbigene:444882 semapv:UnspecifiedMatching -OMIM:610548 AQR skos:exactMatch hgnc:AQR semapv:UnspecifiedMatching +OMIM:610548 AQR skos:exactMatch hgnc.symbol:29513 semapv:UnspecifiedMatching +OMIM:610548 AQR skos:exactMatch hgnc.symbol:AQR semapv:UnspecifiedMatching OMIM:610548 AQR skos:exactMatch ncbigene:9716 semapv:UnspecifiedMatching -OMIM:610550 MAT1A skos:exactMatch hgnc:MAT1A semapv:UnspecifiedMatching +OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:6903 semapv:UnspecifiedMatching +OMIM:610550 MAT1A skos:exactMatch hgnc.symbol:MAT1A semapv:UnspecifiedMatching OMIM:610550 MAT1A skos:exactMatch ncbigene:4143 semapv:UnspecifiedMatching OMIM:610552 UBA5 skos:exactMatch UMLS:C1428004 semapv:UnspecifiedMatching OMIM:610552 UBA5 skos:exactMatch UMLS:C4310699 semapv:UnspecifiedMatching OMIM:610552 UBA5 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching -OMIM:610552 UBA5 skos:exactMatch hgnc:UBA5 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:23230 semapv:UnspecifiedMatching +OMIM:610552 UBA5 skos:exactMatch hgnc.symbol:UBA5 semapv:UnspecifiedMatching OMIM:610552 UBA5 skos:exactMatch ncbigene:79876 semapv:UnspecifiedMatching -OMIM:610553 UFM1 skos:exactMatch hgnc:UFM1 semapv:UnspecifiedMatching +OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:20597 semapv:UnspecifiedMatching +OMIM:610553 UFM1 skos:exactMatch hgnc.symbol:UFM1 semapv:UnspecifiedMatching OMIM:610553 UFM1 skos:exactMatch ncbigene:51569 semapv:UnspecifiedMatching -OMIM:610554 UFC1 skos:exactMatch hgnc:UFC1 semapv:UnspecifiedMatching +OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:26941 semapv:UnspecifiedMatching +OMIM:610554 UFC1 skos:exactMatch hgnc.symbol:UFC1 semapv:UnspecifiedMatching OMIM:610554 UFC1 skos:exactMatch ncbigene:51506 semapv:UnspecifiedMatching -OMIM:610555 C1GALT1 skos:exactMatch hgnc:C1GALT1 semapv:UnspecifiedMatching +OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:24337 semapv:UnspecifiedMatching +OMIM:610555 C1GALT1 skos:exactMatch hgnc.symbol:C1GALT1 semapv:UnspecifiedMatching OMIM:610555 C1GALT1 skos:exactMatch ncbigene:56913 semapv:UnspecifiedMatching -OMIM:610556 HAR1A skos:exactMatch hgnc:HAR1A semapv:UnspecifiedMatching +OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:33117 semapv:UnspecifiedMatching +OMIM:610556 HAR1A skos:exactMatch hgnc.symbol:HAR1A semapv:UnspecifiedMatching OMIM:610556 HAR1A skos:exactMatch ncbigene:768096 semapv:UnspecifiedMatching -OMIM:610557 HAR1B skos:exactMatch hgnc:HAR1B semapv:UnspecifiedMatching +OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:33118 semapv:UnspecifiedMatching +OMIM:610557 HAR1B skos:exactMatch hgnc.symbol:HAR1B semapv:UnspecifiedMatching OMIM:610557 HAR1B skos:exactMatch ncbigene:768097 semapv:UnspecifiedMatching -OMIM:610558 MAPKAP1 skos:exactMatch hgnc:MAPKAP1 semapv:UnspecifiedMatching +OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:18752 semapv:UnspecifiedMatching +OMIM:610558 MAPKAP1 skos:exactMatch hgnc.symbol:MAPKAP1 semapv:UnspecifiedMatching OMIM:610558 MAPKAP1 skos:exactMatch ncbigene:79109 semapv:UnspecifiedMatching -OMIM:610559 RASSF4 skos:exactMatch hgnc:RASSF4 semapv:UnspecifiedMatching +OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:20793 semapv:UnspecifiedMatching +OMIM:610559 RASSF4 skos:exactMatch hgnc.symbol:RASSF4 semapv:UnspecifiedMatching OMIM:610559 RASSF4 skos:exactMatch ncbigene:83937 semapv:UnspecifiedMatching -OMIM:610560 PRSS36 skos:exactMatch hgnc:PRSS36 semapv:UnspecifiedMatching +OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:26906 semapv:UnspecifiedMatching +OMIM:610560 PRSS36 skos:exactMatch hgnc.symbol:PRSS36 semapv:UnspecifiedMatching OMIM:610560 PRSS36 skos:exactMatch ncbigene:146547 semapv:UnspecifiedMatching -OMIM:610561 PRSS53 skos:exactMatch hgnc:PRSS53 semapv:UnspecifiedMatching +OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:34407 semapv:UnspecifiedMatching +OMIM:610561 PRSS53 skos:exactMatch hgnc.symbol:PRSS53 semapv:UnspecifiedMatching OMIM:610561 PRSS53 skos:exactMatch ncbigene:339105 semapv:UnspecifiedMatching OMIM:610562 ZC3H12A skos:exactMatch UMLS:C1823924 semapv:UnspecifiedMatching -OMIM:610562 ZC3H12A skos:exactMatch hgnc:ZC3H12A semapv:UnspecifiedMatching +OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:26259 semapv:UnspecifiedMatching +OMIM:610562 ZC3H12A skos:exactMatch hgnc.symbol:ZC3H12A semapv:UnspecifiedMatching OMIM:610562 ZC3H12A skos:exactMatch ncbigene:80149 semapv:UnspecifiedMatching -OMIM:610563 KPNA6 skos:exactMatch hgnc:KPNA6 semapv:UnspecifiedMatching +OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:6399 semapv:UnspecifiedMatching +OMIM:610563 KPNA6 skos:exactMatch hgnc.symbol:KPNA6 semapv:UnspecifiedMatching OMIM:610563 KPNA6 skos:exactMatch ncbigene:23633 semapv:UnspecifiedMatching -OMIM:610564 PDSS2 skos:exactMatch hgnc:PDSS2 semapv:UnspecifiedMatching +OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:23041 semapv:UnspecifiedMatching +OMIM:610564 PDSS2 skos:exactMatch hgnc.symbol:PDSS2 semapv:UnspecifiedMatching OMIM:610564 PDSS2 skos:exactMatch ncbigene:57107 semapv:UnspecifiedMatching -OMIM:610565 DNAL4 skos:exactMatch hgnc:DNAL4 semapv:UnspecifiedMatching +OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:2955 semapv:UnspecifiedMatching +OMIM:610565 DNAL4 skos:exactMatch hgnc.symbol:DNAL4 semapv:UnspecifiedMatching OMIM:610565 DNAL4 skos:exactMatch ncbigene:10126 semapv:UnspecifiedMatching -OMIM:610566 MIR146A skos:exactMatch hgnc:MIR146A semapv:UnspecifiedMatching +OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:31533 semapv:UnspecifiedMatching +OMIM:610566 MIR146A skos:exactMatch hgnc.symbol:MIR146A semapv:UnspecifiedMatching OMIM:610566 MIR146A skos:exactMatch ncbigene:406938 semapv:UnspecifiedMatching -OMIM:610567 MIR146B skos:exactMatch hgnc:MIR146B semapv:UnspecifiedMatching +OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:32079 semapv:UnspecifiedMatching +OMIM:610567 MIR146B skos:exactMatch hgnc.symbol:MIR146B semapv:UnspecifiedMatching OMIM:610567 MIR146B skos:exactMatch ncbigene:574447 semapv:UnspecifiedMatching -OMIM:610568 ZNF687 skos:exactMatch hgnc:ZNF687 semapv:UnspecifiedMatching +OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:29277 semapv:UnspecifiedMatching +OMIM:610568 ZNF687 skos:exactMatch hgnc.symbol:ZNF687 semapv:UnspecifiedMatching OMIM:610568 ZNF687 skos:exactMatch ncbigene:57592 semapv:UnspecifiedMatching -OMIM:610569 USP24 skos:exactMatch hgnc:USP24 semapv:UnspecifiedMatching +OMIM:610569 USP24 skos:exactMatch hgnc.symbol:12623 semapv:UnspecifiedMatching +OMIM:610569 USP24 skos:exactMatch hgnc.symbol:USP24 semapv:UnspecifiedMatching OMIM:610569 USP24 skos:exactMatch ncbigene:23358 semapv:UnspecifiedMatching -OMIM:610570 USP40 skos:exactMatch hgnc:USP40 semapv:UnspecifiedMatching +OMIM:610570 USP40 skos:exactMatch hgnc.symbol:20069 semapv:UnspecifiedMatching +OMIM:610570 USP40 skos:exactMatch hgnc.symbol:USP40 semapv:UnspecifiedMatching OMIM:610570 USP40 skos:exactMatch ncbigene:55230 semapv:UnspecifiedMatching -OMIM:610571 FKBP11 skos:exactMatch hgnc:FKBP11 semapv:UnspecifiedMatching +OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:18624 semapv:UnspecifiedMatching +OMIM:610571 FKBP11 skos:exactMatch hgnc.symbol:FKBP11 semapv:UnspecifiedMatching OMIM:610571 FKBP11 skos:exactMatch ncbigene:51303 semapv:UnspecifiedMatching -OMIM:610572 MARVELD2 skos:exactMatch hgnc:MARVELD2 semapv:UnspecifiedMatching +OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:26401 semapv:UnspecifiedMatching +OMIM:610572 MARVELD2 skos:exactMatch hgnc.symbol:MARVELD2 semapv:UnspecifiedMatching OMIM:610572 MARVELD2 skos:exactMatch ncbigene:153562 semapv:UnspecifiedMatching -OMIM:610573 RSPO4 skos:exactMatch hgnc:RSPO4 semapv:UnspecifiedMatching +OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:16175 semapv:UnspecifiedMatching +OMIM:610573 RSPO4 skos:exactMatch hgnc.symbol:RSPO4 semapv:UnspecifiedMatching OMIM:610573 RSPO4 skos:exactMatch ncbigene:343637 semapv:UnspecifiedMatching -OMIM:610574 RSPO3 skos:exactMatch hgnc:RSPO3 semapv:UnspecifiedMatching +OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:20866 semapv:UnspecifiedMatching +OMIM:610574 RSPO3 skos:exactMatch hgnc.symbol:RSPO3 semapv:UnspecifiedMatching OMIM:610574 RSPO3 skos:exactMatch ncbigene:84870 semapv:UnspecifiedMatching -OMIM:610575 RSPO2 skos:exactMatch hgnc:RSPO2 semapv:UnspecifiedMatching +OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:28583 semapv:UnspecifiedMatching +OMIM:610575 RSPO2 skos:exactMatch hgnc.symbol:RSPO2 semapv:UnspecifiedMatching OMIM:610575 RSPO2 skos:exactMatch ncbigene:340419 semapv:UnspecifiedMatching -OMIM:610576 ARHGAP9 skos:exactMatch hgnc:ARHGAP9 semapv:UnspecifiedMatching +OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:14130 semapv:UnspecifiedMatching +OMIM:610576 ARHGAP9 skos:exactMatch hgnc.symbol:ARHGAP9 semapv:UnspecifiedMatching OMIM:610576 ARHGAP9 skos:exactMatch ncbigene:64333 semapv:UnspecifiedMatching -OMIM:610577 ARHGAP12 skos:exactMatch hgnc:ARHGAP12 semapv:UnspecifiedMatching +OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:16348 semapv:UnspecifiedMatching +OMIM:610577 ARHGAP12 skos:exactMatch hgnc.symbol:ARHGAP12 semapv:UnspecifiedMatching OMIM:610577 ARHGAP12 skos:exactMatch ncbigene:94134 semapv:UnspecifiedMatching -OMIM:610578 ARHGAP15 skos:exactMatch hgnc:ARHGAP15 semapv:UnspecifiedMatching +OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:21030 semapv:UnspecifiedMatching +OMIM:610578 ARHGAP15 skos:exactMatch hgnc.symbol:ARHGAP15 semapv:UnspecifiedMatching OMIM:610578 ARHGAP15 skos:exactMatch ncbigene:55843 semapv:UnspecifiedMatching -OMIM:610579 RCSD1 skos:exactMatch hgnc:RCSD1 semapv:UnspecifiedMatching +OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:28310 semapv:UnspecifiedMatching +OMIM:610579 RCSD1 skos:exactMatch hgnc.symbol:RCSD1 semapv:UnspecifiedMatching OMIM:610579 RCSD1 skos:exactMatch ncbigene:92241 semapv:UnspecifiedMatching -OMIM:610580 PIM3 skos:exactMatch hgnc:PIM3 semapv:UnspecifiedMatching +OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:19310 semapv:UnspecifiedMatching +OMIM:610580 PIM3 skos:exactMatch hgnc.symbol:PIM3 semapv:UnspecifiedMatching OMIM:610580 PIM3 skos:exactMatch ncbigene:415116 semapv:UnspecifiedMatching -OMIM:610581 COPG2IT1 skos:exactMatch hgnc:COPG2IT1 semapv:UnspecifiedMatching +OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:2238 semapv:UnspecifiedMatching +OMIM:610581 COPG2IT1 skos:exactMatch hgnc.symbol:COPG2IT1 semapv:UnspecifiedMatching OMIM:610581 COPG2IT1 skos:exactMatch ncbigene:53844 semapv:UnspecifiedMatching +OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch Orphanet:99886 semapv:UnspecifiedMatching OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch UMLS:C1864623 semapv:UnspecifiedMatching -OMIM:610582 diabetes mellitus, transient neonatal, 3 skos:exactMatch orphanet.ordo:99886 semapv:UnspecifiedMatching -OMIM:610583 ANKRD6 skos:exactMatch hgnc:ANKRD6 semapv:UnspecifiedMatching +OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:17280 semapv:UnspecifiedMatching +OMIM:610583 ANKRD6 skos:exactMatch hgnc.symbol:ANKRD6 semapv:UnspecifiedMatching OMIM:610583 ANKRD6 skos:exactMatch ncbigene:22881 semapv:UnspecifiedMatching -OMIM:610584 TRIM67 skos:exactMatch hgnc:TRIM67 semapv:UnspecifiedMatching +OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:31859 semapv:UnspecifiedMatching +OMIM:610584 TRIM67 skos:exactMatch hgnc.symbol:TRIM67 semapv:UnspecifiedMatching OMIM:610584 TRIM67 skos:exactMatch ncbigene:440730 semapv:UnspecifiedMatching -OMIM:610585 ARHGAP22 skos:exactMatch hgnc:ARHGAP22 semapv:UnspecifiedMatching +OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:30320 semapv:UnspecifiedMatching +OMIM:610585 ARHGAP22 skos:exactMatch hgnc.symbol:ARHGAP22 semapv:UnspecifiedMatching OMIM:610585 ARHGAP22 skos:exactMatch ncbigene:58504 semapv:UnspecifiedMatching -OMIM:610586 ARHGAP24 skos:exactMatch hgnc:ARHGAP24 semapv:UnspecifiedMatching +OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:25361 semapv:UnspecifiedMatching +OMIM:610586 ARHGAP24 skos:exactMatch hgnc.symbol:ARHGAP24 semapv:UnspecifiedMatching OMIM:610586 ARHGAP24 skos:exactMatch ncbigene:83478 semapv:UnspecifiedMatching -OMIM:610587 ARHGAP25 skos:exactMatch hgnc:ARHGAP25 semapv:UnspecifiedMatching +OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:28951 semapv:UnspecifiedMatching +OMIM:610587 ARHGAP25 skos:exactMatch hgnc.symbol:ARHGAP25 semapv:UnspecifiedMatching OMIM:610587 ARHGAP25 skos:exactMatch ncbigene:9938 semapv:UnspecifiedMatching -OMIM:610588 DDN skos:exactMatch hgnc:DDN semapv:UnspecifiedMatching +OMIM:610588 DDN skos:exactMatch hgnc.symbol:24458 semapv:UnspecifiedMatching +OMIM:610588 DDN skos:exactMatch hgnc.symbol:DDN semapv:UnspecifiedMatching OMIM:610588 DDN skos:exactMatch ncbigene:23109 semapv:UnspecifiedMatching -OMIM:610589 ARHGAP11A skos:exactMatch hgnc:ARHGAP11A semapv:UnspecifiedMatching +OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:15783 semapv:UnspecifiedMatching +OMIM:610589 ARHGAP11A skos:exactMatch hgnc.symbol:ARHGAP11A semapv:UnspecifiedMatching OMIM:610589 ARHGAP11A skos:exactMatch ncbigene:9824 semapv:UnspecifiedMatching -OMIM:610590 ARHGAP23 skos:exactMatch hgnc:ARHGAP23 semapv:UnspecifiedMatching +OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:29293 semapv:UnspecifiedMatching +OMIM:610590 ARHGAP23 skos:exactMatch hgnc.symbol:ARHGAP23 semapv:UnspecifiedMatching OMIM:610590 ARHGAP23 skos:exactMatch ncbigene:57636 semapv:UnspecifiedMatching -OMIM:610591 ARHGAP27 skos:exactMatch hgnc:ARHGAP27 semapv:UnspecifiedMatching +OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:31813 semapv:UnspecifiedMatching +OMIM:610591 ARHGAP27 skos:exactMatch hgnc.symbol:ARHGAP27 semapv:UnspecifiedMatching OMIM:610591 ARHGAP27 skos:exactMatch ncbigene:201176 semapv:UnspecifiedMatching -OMIM:610592 ARHGAP28 skos:exactMatch hgnc:ARHGAP28 semapv:UnspecifiedMatching +OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:25509 semapv:UnspecifiedMatching +OMIM:610592 ARHGAP28 skos:exactMatch hgnc.symbol:ARHGAP28 semapv:UnspecifiedMatching OMIM:610592 ARHGAP28 skos:exactMatch ncbigene:79822 semapv:UnspecifiedMatching -OMIM:610593 MAP6D1 skos:exactMatch hgnc:MAP6D1 semapv:UnspecifiedMatching +OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:25753 semapv:UnspecifiedMatching +OMIM:610593 MAP6D1 skos:exactMatch hgnc.symbol:MAP6D1 semapv:UnspecifiedMatching OMIM:610593 MAP6D1 skos:exactMatch ncbigene:79929 semapv:UnspecifiedMatching -OMIM:610594 FNIP1 skos:exactMatch hgnc:FNIP1 semapv:UnspecifiedMatching +OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:29418 semapv:UnspecifiedMatching +OMIM:610594 FNIP1 skos:exactMatch hgnc.symbol:FNIP1 semapv:UnspecifiedMatching OMIM:610594 FNIP1 skos:exactMatch ncbigene:96459 semapv:UnspecifiedMatching -OMIM:610595 FLAD1 skos:exactMatch hgnc:FLAD1 semapv:UnspecifiedMatching +OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:24671 semapv:UnspecifiedMatching +OMIM:610595 FLAD1 skos:exactMatch hgnc.symbol:FLAD1 semapv:UnspecifiedMatching OMIM:610595 FLAD1 skos:exactMatch ncbigene:80308 semapv:UnspecifiedMatching -OMIM:610596 BOP1 skos:exactMatch hgnc:BOP1 semapv:UnspecifiedMatching +OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:15519 semapv:UnspecifiedMatching +OMIM:610596 BOP1 skos:exactMatch hgnc.symbol:BOP1 semapv:UnspecifiedMatching OMIM:610596 BOP1 skos:exactMatch ncbigene:23246 semapv:UnspecifiedMatching -OMIM:610597 GRWD1 skos:exactMatch hgnc:GRWD1 semapv:UnspecifiedMatching +OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:21270 semapv:UnspecifiedMatching +OMIM:610597 GRWD1 skos:exactMatch hgnc.symbol:GRWD1 semapv:UnspecifiedMatching OMIM:610597 GRWD1 skos:exactMatch ncbigene:83743 semapv:UnspecifiedMatching -OMIM:610598 PRCD skos:exactMatch hgnc:PRCD semapv:UnspecifiedMatching +OMIM:610598 PRCD skos:exactMatch hgnc.symbol:32528 semapv:UnspecifiedMatching +OMIM:610598 PRCD skos:exactMatch hgnc.symbol:PRCD semapv:UnspecifiedMatching OMIM:610598 PRCD skos:exactMatch ncbigene:768206 semapv:UnspecifiedMatching -OMIM:610601 KLK15 skos:exactMatch hgnc:KLK15 semapv:UnspecifiedMatching +OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:20453 semapv:UnspecifiedMatching +OMIM:610601 KLK15 skos:exactMatch hgnc.symbol:KLK15 semapv:UnspecifiedMatching OMIM:610601 KLK15 skos:exactMatch ncbigene:55554 semapv:UnspecifiedMatching -OMIM:610602 ALKBH2 skos:exactMatch hgnc:ALKBH2 semapv:UnspecifiedMatching +OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:32487 semapv:UnspecifiedMatching +OMIM:610602 ALKBH2 skos:exactMatch hgnc.symbol:ALKBH2 semapv:UnspecifiedMatching OMIM:610602 ALKBH2 skos:exactMatch ncbigene:121642 semapv:UnspecifiedMatching -OMIM:610603 ALKBH3 skos:exactMatch hgnc:ALKBH3 semapv:UnspecifiedMatching +OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:30141 semapv:UnspecifiedMatching +OMIM:610603 ALKBH3 skos:exactMatch hgnc.symbol:ALKBH3 semapv:UnspecifiedMatching OMIM:610603 ALKBH3 skos:exactMatch ncbigene:221120 semapv:UnspecifiedMatching -OMIM:610604 KIR3DP1 skos:exactMatch hgnc:KIR3DP1 semapv:UnspecifiedMatching +OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:16343 semapv:UnspecifiedMatching +OMIM:610604 KIR3DP1 skos:exactMatch hgnc.symbol:KIR3DP1 semapv:UnspecifiedMatching OMIM:610604 KIR3DP1 skos:exactMatch ncbigene:548594 semapv:UnspecifiedMatching -OMIM:610605 CPEB2 skos:exactMatch hgnc:CPEB2 semapv:UnspecifiedMatching +OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:21745 semapv:UnspecifiedMatching +OMIM:610605 CPEB2 skos:exactMatch hgnc.symbol:CPEB2 semapv:UnspecifiedMatching OMIM:610605 CPEB2 skos:exactMatch ncbigene:132864 semapv:UnspecifiedMatching -OMIM:610606 CPEB3 skos:exactMatch hgnc:CPEB3 semapv:UnspecifiedMatching +OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:21746 semapv:UnspecifiedMatching +OMIM:610606 CPEB3 skos:exactMatch hgnc.symbol:CPEB3 semapv:UnspecifiedMatching OMIM:610606 CPEB3 skos:exactMatch ncbigene:22849 semapv:UnspecifiedMatching -OMIM:610607 CPEB4 skos:exactMatch hgnc:CPEB4 semapv:UnspecifiedMatching +OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:21747 semapv:UnspecifiedMatching +OMIM:610607 CPEB4 skos:exactMatch hgnc.symbol:CPEB4 semapv:UnspecifiedMatching OMIM:610607 CPEB4 skos:exactMatch ncbigene:80315 semapv:UnspecifiedMatching OMIM:610608 GINS1 skos:exactMatch UMLS:C1825347 semapv:UnspecifiedMatching OMIM:610608 GINS1 skos:exactMatch UMLS:C4693356 semapv:UnspecifiedMatching -OMIM:610608 GINS1 skos:exactMatch hgnc:GINS1 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:28980 semapv:UnspecifiedMatching +OMIM:610608 GINS1 skos:exactMatch hgnc.symbol:GINS1 semapv:UnspecifiedMatching OMIM:610608 GINS1 skos:exactMatch ncbigene:9837 semapv:UnspecifiedMatching -OMIM:610609 GINS2 skos:exactMatch hgnc:GINS2 semapv:UnspecifiedMatching +OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:24575 semapv:UnspecifiedMatching +OMIM:610609 GINS2 skos:exactMatch hgnc.symbol:GINS2 semapv:UnspecifiedMatching OMIM:610609 GINS2 skos:exactMatch ncbigene:51659 semapv:UnspecifiedMatching -OMIM:610610 GINS3 skos:exactMatch hgnc:GINS3 semapv:UnspecifiedMatching +OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:25851 semapv:UnspecifiedMatching +OMIM:610610 GINS3 skos:exactMatch hgnc.symbol:GINS3 semapv:UnspecifiedMatching OMIM:610610 GINS3 skos:exactMatch ncbigene:64785 semapv:UnspecifiedMatching -OMIM:610611 GINS4 skos:exactMatch hgnc:GINS4 semapv:UnspecifiedMatching +OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:28226 semapv:UnspecifiedMatching +OMIM:610611 GINS4 skos:exactMatch hgnc.symbol:GINS4 semapv:UnspecifiedMatching OMIM:610611 GINS4 skos:exactMatch ncbigene:84296 semapv:UnspecifiedMatching -OMIM:610613 CYP11B1 skos:exactMatch hgnc:CYP11B1 semapv:UnspecifiedMatching +OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:2591 semapv:UnspecifiedMatching +OMIM:610613 CYP11B1 skos:exactMatch hgnc.symbol:CYP11B1 semapv:UnspecifiedMatching OMIM:610613 CYP11B1 skos:exactMatch ncbigene:1584 semapv:UnspecifiedMatching -OMIM:610614 TBRG1 skos:exactMatch hgnc:TBRG1 semapv:UnspecifiedMatching +OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:29551 semapv:UnspecifiedMatching +OMIM:610614 TBRG1 skos:exactMatch hgnc.symbol:TBRG1 semapv:UnspecifiedMatching OMIM:610614 TBRG1 skos:exactMatch ncbigene:84897 semapv:UnspecifiedMatching -OMIM:610615 RABL6 skos:exactMatch hgnc:RABL6 semapv:UnspecifiedMatching +OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:24703 semapv:UnspecifiedMatching +OMIM:610615 RABL6 skos:exactMatch hgnc.symbol:RABL6 semapv:UnspecifiedMatching OMIM:610615 RABL6 skos:exactMatch ncbigene:55684 semapv:UnspecifiedMatching -OMIM:610616 ANKRD12 skos:exactMatch hgnc:ANKRD12 semapv:UnspecifiedMatching +OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:29135 semapv:UnspecifiedMatching +OMIM:610616 ANKRD12 skos:exactMatch hgnc.symbol:ANKRD12 semapv:UnspecifiedMatching OMIM:610616 ANKRD12 skos:exactMatch ncbigene:23253 semapv:UnspecifiedMatching OMIM:610617 DTL skos:exactMatch UMLS:C1824983 semapv:UnspecifiedMatching -OMIM:610617 DTL skos:exactMatch hgnc:DTL semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch hgnc.symbol:30288 semapv:UnspecifiedMatching +OMIM:610617 DTL skos:exactMatch hgnc.symbol:DTL semapv:UnspecifiedMatching OMIM:610617 DTL skos:exactMatch ncbigene:51514 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:100054 semapv:UnspecifiedMatching +OMIM:610618 angioedema, hereditary, 3 skos:exactMatch Orphanet:91378 semapv:UnspecifiedMatching OMIM:610618 angioedema, hereditary, 3 skos:exactMatch UMLS:C1857728 semapv:UnspecifiedMatching -OMIM:610618 angioedema, hereditary, 3 skos:exactMatch orphanet.ordo:100054 semapv:UnspecifiedMatching -OMIM:610618 angioedema, hereditary, 3 skos:exactMatch orphanet.ordo:91378 semapv:UnspecifiedMatching -OMIM:610619 F12 skos:exactMatch hgnc:F12 semapv:UnspecifiedMatching +OMIM:610619 F12 skos:exactMatch hgnc.symbol:3530 semapv:UnspecifiedMatching +OMIM:610619 F12 skos:exactMatch hgnc.symbol:F12 semapv:UnspecifiedMatching OMIM:610619 F12 skos:exactMatch ncbigene:2161 semapv:UnspecifiedMatching -OMIM:610620 ADPRHL1 skos:exactMatch hgnc:ADPRHL1 semapv:UnspecifiedMatching +OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:21303 semapv:UnspecifiedMatching +OMIM:610620 ADPRHL1 skos:exactMatch hgnc.symbol:ADPRHL1 semapv:UnspecifiedMatching OMIM:610620 ADPRHL1 skos:exactMatch ncbigene:113622 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C1825613 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C4693640 semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch UMLS:C4694024 semapv:UnspecifiedMatching -OMIM:610621 INTU skos:exactMatch hgnc:INTU semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch hgnc.symbol:29239 semapv:UnspecifiedMatching +OMIM:610621 INTU skos:exactMatch hgnc.symbol:INTU semapv:UnspecifiedMatching OMIM:610621 INTU skos:exactMatch ncbigene:27152 semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch UMLS:C1825324 semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch UMLS:C3891448 semapv:UnspecifiedMatching -OMIM:610622 FUZ skos:exactMatch hgnc:FUZ semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch hgnc.symbol:26219 semapv:UnspecifiedMatching +OMIM:610622 FUZ skos:exactMatch hgnc.symbol:FUZ semapv:UnspecifiedMatching OMIM:610622 FUZ skos:exactMatch ncbigene:80199 semapv:UnspecifiedMatching +OMIM:610623 cataract 11, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:610623 cataract 11, multiple types skos:exactMatch UMLS:C1864567 semapv:UnspecifiedMatching -OMIM:610623 cataract 11, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:610624 ADPRHL2 skos:exactMatch hgnc:ADPRS semapv:UnspecifiedMatching +OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:21304 semapv:UnspecifiedMatching +OMIM:610624 ADPRHL2 skos:exactMatch hgnc.symbol:ADPRS semapv:UnspecifiedMatching OMIM:610624 ADPRHL2 skos:exactMatch ncbigene:54936 semapv:UnspecifiedMatching -OMIM:610625 ART5 skos:exactMatch hgnc:ART5 semapv:UnspecifiedMatching +OMIM:610625 ART5 skos:exactMatch hgnc.symbol:24049 semapv:UnspecifiedMatching +OMIM:610625 ART5 skos:exactMatch hgnc.symbol:ART5 semapv:UnspecifiedMatching OMIM:610625 ART5 skos:exactMatch ncbigene:116969 semapv:UnspecifiedMatching -OMIM:610626 PLPP5 skos:exactMatch hgnc:PLPP5 semapv:UnspecifiedMatching +OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:25026 semapv:UnspecifiedMatching +OMIM:610626 PLPP5 skos:exactMatch hgnc.symbol:PLPP5 semapv:UnspecifiedMatching OMIM:610626 PLPP5 skos:exactMatch ncbigene:84513 semapv:UnspecifiedMatching OMIM:610627 A2ML1 skos:exactMatch UMLS:C1825487 semapv:UnspecifiedMatching OMIM:610627 A2ML1 skos:exactMatch UMLS:C1833692 semapv:UnspecifiedMatching OMIM:610627 A2ML1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610627 A2ML1 skos:exactMatch hgnc:A2ML1 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch hgnc.symbol:23336 semapv:UnspecifiedMatching +OMIM:610627 A2ML1 skos:exactMatch hgnc.symbol:A2ML1 semapv:UnspecifiedMatching OMIM:610627 A2ML1 skos:exactMatch ncbigene:144568 semapv:UnspecifiedMatching -OMIM:610630 PTPN20 skos:exactMatch hgnc:PTPN20 semapv:UnspecifiedMatching +OMIM:610630 PTPN20 skos:exactMatch hgnc.symbol:23423 semapv:UnspecifiedMatching +OMIM:610630 PTPN20 skos:exactMatch hgnc.symbol:PTPN20 semapv:UnspecifiedMatching OMIM:610630 PTPN20 skos:exactMatch ncbigene:26095 semapv:UnspecifiedMatching OMIM:610632 MICU2 skos:exactMatch UMLS:C1539331 semapv:UnspecifiedMatching OMIM:610632 MICU2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:610632 MICU2 skos:exactMatch hgnc:MICU2 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch hgnc.symbol:31830 semapv:UnspecifiedMatching +OMIM:610632 MICU2 skos:exactMatch hgnc.symbol:MICU2 semapv:UnspecifiedMatching OMIM:610632 MICU2 skos:exactMatch ncbigene:221154 semapv:UnspecifiedMatching -OMIM:610633 MICU3 skos:exactMatch hgnc:MICU3 semapv:UnspecifiedMatching +OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:27820 semapv:UnspecifiedMatching +OMIM:610633 MICU3 skos:exactMatch hgnc.symbol:MICU3 semapv:UnspecifiedMatching OMIM:610633 MICU3 skos:exactMatch ncbigene:286097 semapv:UnspecifiedMatching -OMIM:610635 CTHRC1 skos:exactMatch hgnc:CTHRC1 semapv:UnspecifiedMatching +OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:18831 semapv:UnspecifiedMatching +OMIM:610635 CTHRC1 skos:exactMatch hgnc.symbol:CTHRC1 semapv:UnspecifiedMatching OMIM:610635 CTHRC1 skos:exactMatch ncbigene:115908 semapv:UnspecifiedMatching OMIM:610636 MIR27B skos:exactMatch UMLS:C1537730 semapv:UnspecifiedMatching -OMIM:610636 MIR27B skos:exactMatch hgnc:MIR27B semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:31614 semapv:UnspecifiedMatching +OMIM:610636 MIR27B skos:exactMatch hgnc.symbol:MIR27B semapv:UnspecifiedMatching OMIM:610636 MIR27B skos:exactMatch ncbigene:407019 semapv:UnspecifiedMatching -OMIM:610637 MARCHF5 skos:exactMatch hgnc:MARCHF5 semapv:UnspecifiedMatching +OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:26025 semapv:UnspecifiedMatching +OMIM:610637 MARCHF5 skos:exactMatch hgnc.symbol:MARCHF5 semapv:UnspecifiedMatching OMIM:610637 MARCHF5 skos:exactMatch ncbigene:54708 semapv:UnspecifiedMatching -OMIM:610638 IGSF5 skos:exactMatch hgnc:IGSF5 semapv:UnspecifiedMatching +OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:5952 semapv:UnspecifiedMatching +OMIM:610638 IGSF5 skos:exactMatch hgnc.symbol:IGSF5 semapv:UnspecifiedMatching OMIM:610638 IGSF5 skos:exactMatch ncbigene:150084 semapv:UnspecifiedMatching -OMIM:610639 GRID2IP1 skos:exactMatch hgnc:GRID2IP semapv:UnspecifiedMatching +OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:18464 semapv:UnspecifiedMatching +OMIM:610639 GRID2IP1 skos:exactMatch hgnc.symbol:GRID2IP semapv:UnspecifiedMatching OMIM:610639 GRID2IP1 skos:exactMatch ncbigene:392862 semapv:UnspecifiedMatching OMIM:610640 YTHDF2 skos:exactMatch UMLS:C1538134 semapv:UnspecifiedMatching -OMIM:610640 YTHDF2 skos:exactMatch hgnc:YTHDF2 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:31675 semapv:UnspecifiedMatching +OMIM:610640 YTHDF2 skos:exactMatch hgnc.symbol:YTHDF2 semapv:UnspecifiedMatching OMIM:610640 YTHDF2 skos:exactMatch ncbigene:51441 semapv:UnspecifiedMatching -OMIM:610641 TUT1 skos:exactMatch hgnc:TUT1 semapv:UnspecifiedMatching +OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:26184 semapv:UnspecifiedMatching +OMIM:610641 TUT1 skos:exactMatch hgnc.symbol:TUT1 semapv:UnspecifiedMatching OMIM:610641 TUT1 skos:exactMatch ncbigene:64852 semapv:UnspecifiedMatching -OMIM:610642 ERP27 skos:exactMatch hgnc:ERP27 semapv:UnspecifiedMatching +OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:26495 semapv:UnspecifiedMatching +OMIM:610642 ERP27 skos:exactMatch hgnc.symbol:ERP27 semapv:UnspecifiedMatching OMIM:610642 ERP27 skos:exactMatch ncbigene:121506 semapv:UnspecifiedMatching -OMIM:610643 CIP2A skos:exactMatch hgnc:CIP2A semapv:UnspecifiedMatching +OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:29302 semapv:UnspecifiedMatching +OMIM:610643 CIP2A skos:exactMatch hgnc.symbol:CIP2A semapv:UnspecifiedMatching OMIM:610643 CIP2A skos:exactMatch ncbigene:57650 semapv:UnspecifiedMatching -OMIM:610645 CIB3 skos:exactMatch hgnc:CIB3 semapv:UnspecifiedMatching +OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:24580 semapv:UnspecifiedMatching +OMIM:610645 CIB3 skos:exactMatch hgnc.symbol:CIB3 semapv:UnspecifiedMatching OMIM:610645 CIB3 skos:exactMatch ncbigene:117286 semapv:UnspecifiedMatching -OMIM:610646 CIB4 skos:exactMatch hgnc:CIB4 semapv:UnspecifiedMatching +OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:33703 semapv:UnspecifiedMatching +OMIM:610646 CIB4 skos:exactMatch hgnc.symbol:CIB4 semapv:UnspecifiedMatching OMIM:610646 CIB4 skos:exactMatch ncbigene:130106 semapv:UnspecifiedMatching -OMIM:610647 NAT8L skos:exactMatch hgnc:NAT8L semapv:UnspecifiedMatching +OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:26742 semapv:UnspecifiedMatching +OMIM:610647 NAT8L skos:exactMatch hgnc.symbol:NAT8L semapv:UnspecifiedMatching OMIM:610647 NAT8L skos:exactMatch ncbigene:339983 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch UMLS:C1426179 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching -OMIM:610648 CUX2 skos:exactMatch hgnc:CUX2 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:19347 semapv:UnspecifiedMatching +OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:CUX2 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch ncbigene:23316 semapv:UnspecifiedMatching -OMIM:610650 ADRM1 skos:exactMatch hgnc:ADRM1 semapv:UnspecifiedMatching +OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:15759 semapv:UnspecifiedMatching +OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:ADRM1 semapv:UnspecifiedMatching OMIM:610650 ADRM1 skos:exactMatch ncbigene:11047 semapv:UnspecifiedMatching -OMIM:610652 PDE10A skos:exactMatch hgnc:PDE10A semapv:UnspecifiedMatching +OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:8772 semapv:UnspecifiedMatching +OMIM:610652 PDE10A skos:exactMatch hgnc.symbol:PDE10A semapv:UnspecifiedMatching OMIM:610652 PDE10A skos:exactMatch ncbigene:10846 semapv:UnspecifiedMatching -OMIM:610653 RRP1 skos:exactMatch hgnc:RRP1 semapv:UnspecifiedMatching +OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:18785 semapv:UnspecifiedMatching +OMIM:610653 RRP1 skos:exactMatch hgnc.symbol:RRP1 semapv:UnspecifiedMatching OMIM:610653 RRP1 skos:exactMatch ncbigene:8568 semapv:UnspecifiedMatching -OMIM:610654 RRP1B skos:exactMatch hgnc:RRP1B semapv:UnspecifiedMatching +OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:23818 semapv:UnspecifiedMatching +OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:RRP1B semapv:UnspecifiedMatching OMIM:610654 RRP1B skos:exactMatch ncbigene:23076 semapv:UnspecifiedMatching -OMIM:610656 CCBL2 skos:exactMatch hgnc:KYAT3 semapv:UnspecifiedMatching +OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:33238 semapv:UnspecifiedMatching +OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:KYAT3 semapv:UnspecifiedMatching OMIM:610656 CCBL2 skos:exactMatch ncbigene:56267 semapv:UnspecifiedMatching -OMIM:610657 WASHC5 skos:exactMatch hgnc:WASHC5 semapv:UnspecifiedMatching +OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:28984 semapv:UnspecifiedMatching +OMIM:610657 WASHC5 skos:exactMatch hgnc.symbol:WASHC5 semapv:UnspecifiedMatching OMIM:610657 WASHC5 skos:exactMatch ncbigene:9897 semapv:UnspecifiedMatching -OMIM:610658 TRIM29 skos:exactMatch hgnc:TRIM29 semapv:UnspecifiedMatching +OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:17274 semapv:UnspecifiedMatching +OMIM:610658 TRIM29 skos:exactMatch hgnc.symbol:TRIM29 semapv:UnspecifiedMatching OMIM:610658 TRIM29 skos:exactMatch ncbigene:23650 semapv:UnspecifiedMatching -OMIM:610659 GRID1 skos:exactMatch hgnc:GRID1 semapv:UnspecifiedMatching +OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:4575 semapv:UnspecifiedMatching +OMIM:610659 GRID1 skos:exactMatch hgnc.symbol:GRID1 semapv:UnspecifiedMatching OMIM:610659 GRID1 skos:exactMatch ncbigene:2894 semapv:UnspecifiedMatching -OMIM:610660 GLYR1 skos:exactMatch hgnc:GLYR1 semapv:UnspecifiedMatching +OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:24434 semapv:UnspecifiedMatching +OMIM:610660 GLYR1 skos:exactMatch hgnc.symbol:GLYR1 semapv:UnspecifiedMatching OMIM:610660 GLYR1 skos:exactMatch ncbigene:84656 semapv:UnspecifiedMatching OMIM:610661 NGLY1 skos:exactMatch UMLS:C1425023 semapv:UnspecifiedMatching OMIM:610661 NGLY1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching -OMIM:610661 NGLY1 skos:exactMatch hgnc:NGLY1 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:17646 semapv:UnspecifiedMatching +OMIM:610661 NGLY1 skos:exactMatch hgnc.symbol:NGLY1 semapv:UnspecifiedMatching OMIM:610661 NGLY1 skos:exactMatch ncbigene:55768 semapv:UnspecifiedMatching -OMIM:610662 PIGY skos:exactMatch hgnc:PIGY semapv:UnspecifiedMatching +OMIM:610662 PIGY skos:exactMatch hgnc.symbol:28213 semapv:UnspecifiedMatching +OMIM:610662 PIGY skos:exactMatch hgnc.symbol:PIGY semapv:UnspecifiedMatching OMIM:610662 PIGY skos:exactMatch ncbigene:84992 semapv:UnspecifiedMatching -OMIM:610663 SMYD2 skos:exactMatch hgnc:SMYD2 semapv:UnspecifiedMatching +OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:20982 semapv:UnspecifiedMatching +OMIM:610663 SMYD2 skos:exactMatch hgnc.symbol:SMYD2 semapv:UnspecifiedMatching OMIM:610663 SMYD2 skos:exactMatch ncbigene:56950 semapv:UnspecifiedMatching -OMIM:610664 BLTP2 skos:exactMatch hgnc:BLTP2 semapv:UnspecifiedMatching +OMIM:610664 BLTP2 skos:exactMatch hgnc.symbol:BLTP2 semapv:UnspecifiedMatching OMIM:610664 BLTP2 skos:exactMatch ncbigene:9703 semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch UMLS:C1414556 semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch UMLS:C4017227 semapv:UnspecifiedMatching -OMIM:610665 FCGR3B skos:exactMatch hgnc:FCGR3B semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:3620 semapv:UnspecifiedMatching +OMIM:610665 FCGR3B skos:exactMatch hgnc.symbol:FCGR3B semapv:UnspecifiedMatching OMIM:610665 FCGR3B skos:exactMatch ncbigene:2215 semapv:UnspecifiedMatching -OMIM:610666 NRSN2 skos:exactMatch hgnc:NRSN2 semapv:UnspecifiedMatching +OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:16229 semapv:UnspecifiedMatching +OMIM:610666 NRSN2 skos:exactMatch hgnc.symbol:NRSN2 semapv:UnspecifiedMatching OMIM:610666 NRSN2 skos:exactMatch ncbigene:80023 semapv:UnspecifiedMatching -OMIM:610667 UCHL5 skos:exactMatch hgnc:UCHL5 semapv:UnspecifiedMatching +OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:19678 semapv:UnspecifiedMatching +OMIM:610667 UCHL5 skos:exactMatch hgnc.symbol:UCHL5 semapv:UnspecifiedMatching OMIM:610667 UCHL5 skos:exactMatch ncbigene:51377 semapv:UnspecifiedMatching OMIM:610668 INSC skos:exactMatch UMLS:C1825602 semapv:UnspecifiedMatching -OMIM:610668 INSC skos:exactMatch hgnc:INSC semapv:UnspecifiedMatching +OMIM:610668 INSC skos:exactMatch hgnc.symbol:33116 semapv:UnspecifiedMatching +OMIM:610668 INSC skos:exactMatch hgnc.symbol:INSC semapv:UnspecifiedMatching OMIM:610668 INSC skos:exactMatch ncbigene:387755 semapv:UnspecifiedMatching -OMIM:610669 TNIP2 skos:exactMatch hgnc:TNIP2 semapv:UnspecifiedMatching +OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:19118 semapv:UnspecifiedMatching +OMIM:610669 TNIP2 skos:exactMatch hgnc.symbol:TNIP2 semapv:UnspecifiedMatching OMIM:610669 TNIP2 skos:exactMatch ncbigene:79155 semapv:UnspecifiedMatching OMIM:610670 CYP2U1 skos:exactMatch UMLS:C1427016 semapv:UnspecifiedMatching OMIM:610670 CYP2U1 skos:exactMatch UMLS:C3539507 semapv:UnspecifiedMatching -OMIM:610670 CYP2U1 skos:exactMatch hgnc:CYP2U1 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:20582 semapv:UnspecifiedMatching +OMIM:610670 CYP2U1 skos:exactMatch hgnc.symbol:CYP2U1 semapv:UnspecifiedMatching OMIM:610670 CYP2U1 skos:exactMatch ncbigene:113612 semapv:UnspecifiedMatching OMIM:610671 ZNF628 skos:exactMatch UMLS:C1538207 semapv:UnspecifiedMatching -OMIM:610671 ZNF628 skos:exactMatch hgnc:ZNF628 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:28054 semapv:UnspecifiedMatching +OMIM:610671 ZNF628 skos:exactMatch hgnc.symbol:ZNF628 semapv:UnspecifiedMatching OMIM:610671 ZNF628 skos:exactMatch ncbigene:89887 semapv:UnspecifiedMatching -OMIM:610672 NACC1 skos:exactMatch hgnc:NACC1 semapv:UnspecifiedMatching +OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:20967 semapv:UnspecifiedMatching +OMIM:610672 NACC1 skos:exactMatch hgnc.symbol:NACC1 semapv:UnspecifiedMatching OMIM:610672 NACC1 skos:exactMatch ncbigene:112939 semapv:UnspecifiedMatching -OMIM:610673 NAIF1 skos:exactMatch hgnc:NAIF1 semapv:UnspecifiedMatching +OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:25446 semapv:UnspecifiedMatching +OMIM:610673 NAIF1 skos:exactMatch hgnc.symbol:NAIF1 semapv:UnspecifiedMatching OMIM:610673 NAIF1 skos:exactMatch ncbigene:203245 semapv:UnspecifiedMatching -OMIM:610674 SPEF1 skos:exactMatch hgnc:SPEF1 semapv:UnspecifiedMatching +OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:15874 semapv:UnspecifiedMatching +OMIM:610674 SPEF1 skos:exactMatch hgnc.symbol:SPEF1 semapv:UnspecifiedMatching OMIM:610674 SPEF1 skos:exactMatch ncbigene:25876 semapv:UnspecifiedMatching -OMIM:610675 USE1 skos:exactMatch hgnc:USE1 semapv:UnspecifiedMatching +OMIM:610675 USE1 skos:exactMatch hgnc.symbol:30882 semapv:UnspecifiedMatching +OMIM:610675 USE1 skos:exactMatch hgnc.symbol:USE1 semapv:UnspecifiedMatching OMIM:610675 USE1 skos:exactMatch ncbigene:55850 semapv:UnspecifiedMatching -OMIM:610677 LSM14A skos:exactMatch hgnc:LSM14A semapv:UnspecifiedMatching +OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:24489 semapv:UnspecifiedMatching +OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:LSM14A semapv:UnspecifiedMatching OMIM:610677 LSM14A skos:exactMatch ncbigene:26065 semapv:UnspecifiedMatching -OMIM:610679 CDK14 skos:exactMatch hgnc:CDK14 semapv:UnspecifiedMatching +OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:8883 semapv:UnspecifiedMatching +OMIM:610679 CDK14 skos:exactMatch hgnc.symbol:CDK14 semapv:UnspecifiedMatching OMIM:610679 CDK14 skos:exactMatch ncbigene:5218 semapv:UnspecifiedMatching -OMIM:610681 PFKM skos:exactMatch hgnc:PFKM semapv:UnspecifiedMatching +OMIM:610681 PFKM skos:exactMatch hgnc.symbol:8877 semapv:UnspecifiedMatching +OMIM:610681 PFKM skos:exactMatch hgnc.symbol:PFKM semapv:UnspecifiedMatching OMIM:610681 PFKM skos:exactMatch ncbigene:5213 semapv:UnspecifiedMatching -OMIM:610683 BBS12 skos:exactMatch hgnc:BBS12 semapv:UnspecifiedMatching +OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:26648 semapv:UnspecifiedMatching +OMIM:610683 BBS12 skos:exactMatch hgnc.symbol:BBS12 semapv:UnspecifiedMatching OMIM:610683 BBS12 skos:exactMatch ncbigene:166379 semapv:UnspecifiedMatching -OMIM:610684 CTDNEP1 skos:exactMatch hgnc:CTDNEP1 semapv:UnspecifiedMatching +OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:19085 semapv:UnspecifiedMatching +OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:CTDNEP1 semapv:UnspecifiedMatching OMIM:610684 CTDNEP1 skos:exactMatch ncbigene:23399 semapv:UnspecifiedMatching -OMIM:610686 UBXN2B skos:exactMatch hgnc:UBXN2B semapv:UnspecifiedMatching +OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:27035 semapv:UnspecifiedMatching +OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:UBXN2B semapv:UnspecifiedMatching OMIM:610686 UBXN2B skos:exactMatch ncbigene:137886 semapv:UnspecifiedMatching +OMIM:610687 nemaline myopathy 7 skos:exactMatch Orphanet:171436 semapv:UnspecifiedMatching OMIM:610687 nemaline myopathy 7 skos:exactMatch UMLS:C1853154 semapv:UnspecifiedMatching -OMIM:610687 nemaline myopathy 7 skos:exactMatch orphanet.ordo:171436 semapv:UnspecifiedMatching -OMIM:610689 dipla1, antisense skos:exactMatch hgnc:PAPPA-AS1 semapv:UnspecifiedMatching +OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:35152 semapv:UnspecifiedMatching +OMIM:610689 dipla1, antisense skos:exactMatch hgnc.symbol:PAPPA-AS1 semapv:UnspecifiedMatching OMIM:610689 dipla1, antisense skos:exactMatch ncbigene:493913 semapv:UnspecifiedMatching OMIM:610690 HIBCH skos:exactMatch UMLS:C0342738 semapv:UnspecifiedMatching OMIM:610690 HIBCH skos:exactMatch UMLS:C1415543 semapv:UnspecifiedMatching -OMIM:610690 HIBCH skos:exactMatch hgnc:HIBCH semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:4908 semapv:UnspecifiedMatching +OMIM:610690 HIBCH skos:exactMatch hgnc.symbol:HIBCH semapv:UnspecifiedMatching OMIM:610690 HIBCH skos:exactMatch ncbigene:26275 semapv:UnspecifiedMatching -OMIM:610691 PRUNE2 skos:exactMatch hgnc:PRUNE2 semapv:UnspecifiedMatching +OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:25209 semapv:UnspecifiedMatching +OMIM:610691 PRUNE2 skos:exactMatch hgnc.symbol:PRUNE2 semapv:UnspecifiedMatching OMIM:610691 PRUNE2 skos:exactMatch ncbigene:158471 semapv:UnspecifiedMatching -OMIM:610692 HSPB7 skos:exactMatch hgnc:HSPB7 semapv:UnspecifiedMatching +OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:5249 semapv:UnspecifiedMatching +OMIM:610692 HSPB7 skos:exactMatch hgnc.symbol:HSPB7 semapv:UnspecifiedMatching OMIM:610692 HSPB7 skos:exactMatch ncbigene:27129 semapv:UnspecifiedMatching -OMIM:610693 HYLS1 skos:exactMatch hgnc:HYLS1 semapv:UnspecifiedMatching +OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:26558 semapv:UnspecifiedMatching +OMIM:610693 HYLS1 skos:exactMatch hgnc.symbol:HYLS1 semapv:UnspecifiedMatching OMIM:610693 HYLS1 skos:exactMatch ncbigene:219844 semapv:UnspecifiedMatching -OMIM:610694 PGPEP1 skos:exactMatch hgnc:PGPEP1 semapv:UnspecifiedMatching +OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:13568 semapv:UnspecifiedMatching +OMIM:610694 PGPEP1 skos:exactMatch hgnc.symbol:PGPEP1 semapv:UnspecifiedMatching OMIM:610694 PGPEP1 skos:exactMatch ncbigene:54858 semapv:UnspecifiedMatching -OMIM:610695 HSPB6 skos:exactMatch hgnc:HSPB6 semapv:UnspecifiedMatching +OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:26511 semapv:UnspecifiedMatching +OMIM:610695 HSPB6 skos:exactMatch hgnc.symbol:HSPB6 semapv:UnspecifiedMatching OMIM:610695 HSPB6 skos:exactMatch ncbigene:126393 semapv:UnspecifiedMatching -OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc:PCLAF semapv:UnspecifiedMatching +OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:28961 semapv:UnspecifiedMatching +OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch hgnc.symbol:PCLAF semapv:UnspecifiedMatching OMIM:610696 pcna-associated factor, 15-kd skos:exactMatch ncbigene:9768 semapv:UnspecifiedMatching -OMIM:610697 PDZD2 skos:exactMatch hgnc:PDZD2 semapv:UnspecifiedMatching +OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:18486 semapv:UnspecifiedMatching +OMIM:610697 PDZD2 skos:exactMatch hgnc.symbol:PDZD2 semapv:UnspecifiedMatching OMIM:610697 PDZD2 skos:exactMatch ncbigene:23037 semapv:UnspecifiedMatching -OMIM:610699 ZFAND2A skos:exactMatch hgnc:ZFAND2A semapv:UnspecifiedMatching +OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:28073 semapv:UnspecifiedMatching +OMIM:610699 ZFAND2A skos:exactMatch hgnc.symbol:ZFAND2A semapv:UnspecifiedMatching OMIM:610699 ZFAND2A skos:exactMatch ncbigene:90637 semapv:UnspecifiedMatching -OMIM:610700 HTRA4 skos:exactMatch hgnc:HTRA4 semapv:UnspecifiedMatching +OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:26909 semapv:UnspecifiedMatching +OMIM:610700 HTRA4 skos:exactMatch hgnc.symbol:HTRA4 semapv:UnspecifiedMatching OMIM:610700 HTRA4 skos:exactMatch ncbigene:203100 semapv:UnspecifiedMatching -OMIM:610701 HSPA12A skos:exactMatch hgnc:HSPA12A semapv:UnspecifiedMatching +OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:19022 semapv:UnspecifiedMatching +OMIM:610701 HSPA12A skos:exactMatch hgnc.symbol:HSPA12A semapv:UnspecifiedMatching OMIM:610701 HSPA12A skos:exactMatch ncbigene:259217 semapv:UnspecifiedMatching -OMIM:610702 HSPA12B skos:exactMatch hgnc:HSPA12B semapv:UnspecifiedMatching +OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:16193 semapv:UnspecifiedMatching +OMIM:610702 HSPA12B skos:exactMatch hgnc.symbol:HSPA12B semapv:UnspecifiedMatching OMIM:610702 HSPA12B skos:exactMatch ncbigene:116835 semapv:UnspecifiedMatching -OMIM:610703 HSPH1 skos:exactMatch hgnc:HSPH1 semapv:UnspecifiedMatching +OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:16969 semapv:UnspecifiedMatching +OMIM:610703 HSPH1 skos:exactMatch hgnc.symbol:HSPH1 semapv:UnspecifiedMatching OMIM:610703 HSPH1 skos:exactMatch ncbigene:10808 semapv:UnspecifiedMatching -OMIM:610704 PHB2 skos:exactMatch hgnc:PHB2 semapv:UnspecifiedMatching +OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:30306 semapv:UnspecifiedMatching +OMIM:610704 PHB2 skos:exactMatch hgnc.symbol:PHB2 semapv:UnspecifiedMatching OMIM:610704 PHB2 skos:exactMatch ncbigene:11331 semapv:UnspecifiedMatching -OMIM:610705 CD300LB skos:exactMatch hgnc:CD300LB semapv:UnspecifiedMatching +OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:30811 semapv:UnspecifiedMatching +OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:CD300LB semapv:UnspecifiedMatching OMIM:610705 CD300LB skos:exactMatch ncbigene:124599 semapv:UnspecifiedMatching -OMIM:610709 TSSK1 skos:exactMatch hgnc:TSSK1B semapv:UnspecifiedMatching +OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:14968 semapv:UnspecifiedMatching +OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:TSSK1B semapv:UnspecifiedMatching OMIM:610709 TSSK1 skos:exactMatch ncbigene:83942 semapv:UnspecifiedMatching -OMIM:610710 TSSK2 skos:exactMatch hgnc:TSSK2 semapv:UnspecifiedMatching +OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:11401 semapv:UnspecifiedMatching +OMIM:610710 TSSK2 skos:exactMatch hgnc.symbol:TSSK2 semapv:UnspecifiedMatching OMIM:610710 TSSK2 skos:exactMatch ncbigene:23617 semapv:UnspecifiedMatching -OMIM:610711 TSSK4 skos:exactMatch hgnc:TSSK4 semapv:UnspecifiedMatching +OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:19825 semapv:UnspecifiedMatching +OMIM:610711 TSSK4 skos:exactMatch hgnc.symbol:TSSK4 semapv:UnspecifiedMatching OMIM:610711 TSSK4 skos:exactMatch ncbigene:283629 semapv:UnspecifiedMatching -OMIM:610712 TSSK6 skos:exactMatch hgnc:TSSK6 semapv:UnspecifiedMatching +OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:30410 semapv:UnspecifiedMatching +OMIM:610712 TSSK6 skos:exactMatch hgnc.symbol:TSSK6 semapv:UnspecifiedMatching OMIM:610712 TSSK6 skos:exactMatch ncbigene:83983 semapv:UnspecifiedMatching -OMIM:610714 PKN3 skos:exactMatch hgnc:PKN3 semapv:UnspecifiedMatching +OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:17999 semapv:UnspecifiedMatching +OMIM:610714 PKN3 skos:exactMatch hgnc.symbol:PKN3 semapv:UnspecifiedMatching OMIM:610714 PKN3 skos:exactMatch ncbigene:29941 semapv:UnspecifiedMatching -OMIM:610715 HEMGN skos:exactMatch hgnc:HEMGN semapv:UnspecifiedMatching +OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:17509 semapv:UnspecifiedMatching +OMIM:610715 HEMGN skos:exactMatch hgnc.symbol:HEMGN semapv:UnspecifiedMatching OMIM:610715 HEMGN skos:exactMatch ncbigene:55363 semapv:UnspecifiedMatching -OMIM:610716 TIPIN skos:exactMatch hgnc:TIPIN semapv:UnspecifiedMatching +OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:30750 semapv:UnspecifiedMatching +OMIM:610716 TIPIN skos:exactMatch hgnc.symbol:TIPIN semapv:UnspecifiedMatching OMIM:610716 TIPIN skos:exactMatch ncbigene:54962 semapv:UnspecifiedMatching -OMIM:610718 MIR195 skos:exactMatch hgnc:MIR195 semapv:UnspecifiedMatching +OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:31566 semapv:UnspecifiedMatching +OMIM:610718 MIR195 skos:exactMatch hgnc.symbol:MIR195 semapv:UnspecifiedMatching OMIM:610718 MIR195 skos:exactMatch ncbigene:406971 semapv:UnspecifiedMatching -OMIM:610719 MIR199A1 skos:exactMatch hgnc:MIR199A1 semapv:UnspecifiedMatching +OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:31571 semapv:UnspecifiedMatching +OMIM:610719 MIR199A1 skos:exactMatch hgnc.symbol:MIR199A1 semapv:UnspecifiedMatching OMIM:610719 MIR199A1 skos:exactMatch ncbigene:406976 semapv:UnspecifiedMatching -OMIM:610720 MIR199A2 skos:exactMatch hgnc:MIR199A2 semapv:UnspecifiedMatching +OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:31572 semapv:UnspecifiedMatching +OMIM:610720 MIR199A2 skos:exactMatch hgnc.symbol:MIR199A2 semapv:UnspecifiedMatching OMIM:610720 MIR199A2 skos:exactMatch ncbigene:406977 semapv:UnspecifiedMatching -OMIM:610721 MIR214 skos:exactMatch hgnc:MIR214 semapv:UnspecifiedMatching +OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:31591 semapv:UnspecifiedMatching +OMIM:610721 MIR214 skos:exactMatch hgnc.symbol:MIR214 semapv:UnspecifiedMatching OMIM:610721 MIR214 skos:exactMatch ncbigene:406996 semapv:UnspecifiedMatching -OMIM:610723 MIR23B skos:exactMatch hgnc:MIR23B semapv:UnspecifiedMatching +OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:31606 semapv:UnspecifiedMatching +OMIM:610723 MIR23B skos:exactMatch hgnc.symbol:MIR23B semapv:UnspecifiedMatching OMIM:610723 MIR23B skos:exactMatch ncbigene:407011 semapv:UnspecifiedMatching -OMIM:610724 MIR24-2 skos:exactMatch hgnc:MIR24-2 semapv:UnspecifiedMatching +OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:31608 semapv:UnspecifiedMatching +OMIM:610724 MIR24-2 skos:exactMatch hgnc.symbol:MIR24-2 semapv:UnspecifiedMatching OMIM:610724 MIR24-2 skos:exactMatch ncbigene:407013 semapv:UnspecifiedMatching OMIM:610726 TRUB1 skos:exactMatch UMLS:C1423945 semapv:UnspecifiedMatching -OMIM:610726 TRUB1 skos:exactMatch hgnc:TRUB1 semapv:UnspecifiedMatching +OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:16060 semapv:UnspecifiedMatching +OMIM:610726 TRUB1 skos:exactMatch hgnc.symbol:TRUB1 semapv:UnspecifiedMatching OMIM:610726 TRUB1 skos:exactMatch ncbigene:142940 semapv:UnspecifiedMatching OMIM:610727 TRUB2 skos:exactMatch UMLS:C1424793 semapv:UnspecifiedMatching -OMIM:610727 TRUB2 skos:exactMatch hgnc:TRUB2 semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:17170 semapv:UnspecifiedMatching +OMIM:610727 TRUB2 skos:exactMatch hgnc.symbol:TRUB2 semapv:UnspecifiedMatching OMIM:610727 TRUB2 skos:exactMatch ncbigene:26995 semapv:UnspecifiedMatching -OMIM:610728 SMPDL3A skos:exactMatch hgnc:SMPDL3A semapv:UnspecifiedMatching +OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:17389 semapv:UnspecifiedMatching +OMIM:610728 SMPDL3A skos:exactMatch hgnc.symbol:SMPDL3A semapv:UnspecifiedMatching OMIM:610728 SMPDL3A skos:exactMatch ncbigene:10924 semapv:UnspecifiedMatching -OMIM:610729 WDR92 skos:exactMatch hgnc:DNAAF10 semapv:UnspecifiedMatching +OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:25176 semapv:UnspecifiedMatching +OMIM:610729 WDR92 skos:exactMatch hgnc.symbol:DNAAF10 semapv:UnspecifiedMatching OMIM:610729 WDR92 skos:exactMatch ncbigene:116143 semapv:UnspecifiedMatching -OMIM:610730 CCT6B skos:exactMatch hgnc:CCT6B semapv:UnspecifiedMatching +OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:1621 semapv:UnspecifiedMatching +OMIM:610730 CCT6B skos:exactMatch hgnc.symbol:CCT6B semapv:UnspecifiedMatching OMIM:610730 CCT6B skos:exactMatch ncbigene:10693 semapv:UnspecifiedMatching -OMIM:610731 ANKRD7 skos:exactMatch hgnc:ANKRD7 semapv:UnspecifiedMatching +OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:18588 semapv:UnspecifiedMatching +OMIM:610731 ANKRD7 skos:exactMatch hgnc.symbol:ANKRD7 semapv:UnspecifiedMatching OMIM:610731 ANKRD7 skos:exactMatch ncbigene:56311 semapv:UnspecifiedMatching OMIM:610732 TTC12 skos:exactMatch UMLS:C1428204 semapv:UnspecifiedMatching OMIM:610732 TTC12 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching -OMIM:610732 TTC12 skos:exactMatch hgnc:TTC12 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:23700 semapv:UnspecifiedMatching +OMIM:610732 TTC12 skos:exactMatch hgnc.symbol:TTC12 semapv:UnspecifiedMatching OMIM:610732 TTC12 skos:exactMatch ncbigene:54970 semapv:UnspecifiedMatching +OMIM:610733 noonan syndrome 4 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:610733 noonan syndrome 4 skos:exactMatch UMLS:C1853120 semapv:UnspecifiedMatching -OMIM:610733 noonan syndrome 4 skos:exactMatch orphanet.ordo:648 semapv:UnspecifiedMatching -OMIM:610734 ANKRD2 skos:exactMatch hgnc:ANKRD2 semapv:UnspecifiedMatching +OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:495 semapv:UnspecifiedMatching +OMIM:610734 ANKRD2 skos:exactMatch hgnc.symbol:ANKRD2 semapv:UnspecifiedMatching OMIM:610734 ANKRD2 skos:exactMatch ncbigene:26287 semapv:UnspecifiedMatching -OMIM:610735 MYOZ3 skos:exactMatch hgnc:MYOZ3 semapv:UnspecifiedMatching +OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:18565 semapv:UnspecifiedMatching +OMIM:610735 MYOZ3 skos:exactMatch hgnc.symbol:MYOZ3 semapv:UnspecifiedMatching OMIM:610735 MYOZ3 skos:exactMatch ncbigene:91977 semapv:UnspecifiedMatching -OMIM:610736 ANKRD23 skos:exactMatch hgnc:ANKRD23 semapv:UnspecifiedMatching +OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:24470 semapv:UnspecifiedMatching +OMIM:610736 ANKRD23 skos:exactMatch hgnc.symbol:ANKRD23 semapv:UnspecifiedMatching OMIM:610736 ANKRD23 skos:exactMatch ncbigene:200539 semapv:UnspecifiedMatching -OMIM:610737 KSR2 skos:exactMatch hgnc:KSR2 semapv:UnspecifiedMatching +OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:18610 semapv:UnspecifiedMatching +OMIM:610737 KSR2 skos:exactMatch hgnc.symbol:KSR2 semapv:UnspecifiedMatching OMIM:610737 KSR2 skos:exactMatch ncbigene:283455 semapv:UnspecifiedMatching -OMIM:610739 TNRC6A skos:exactMatch hgnc:TNRC6A semapv:UnspecifiedMatching +OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:11969 semapv:UnspecifiedMatching +OMIM:610739 TNRC6A skos:exactMatch hgnc.symbol:TNRC6A semapv:UnspecifiedMatching OMIM:610739 TNRC6A skos:exactMatch ncbigene:27327 semapv:UnspecifiedMatching -OMIM:610740 TNRC6B skos:exactMatch hgnc:TNRC6B semapv:UnspecifiedMatching +OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:29190 semapv:UnspecifiedMatching +OMIM:610740 TNRC6B skos:exactMatch hgnc.symbol:TNRC6B semapv:UnspecifiedMatching OMIM:610740 TNRC6B skos:exactMatch ncbigene:23112 semapv:UnspecifiedMatching -OMIM:610741 TNRC6C skos:exactMatch hgnc:TNRC6C semapv:UnspecifiedMatching +OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:29318 semapv:UnspecifiedMatching +OMIM:610741 TNRC6C skos:exactMatch hgnc.symbol:TNRC6C semapv:UnspecifiedMatching OMIM:610741 TNRC6C skos:exactMatch ncbigene:57690 semapv:UnspecifiedMatching -OMIM:610742 MOV10 skos:exactMatch hgnc:MOV10 semapv:UnspecifiedMatching +OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:7200 semapv:UnspecifiedMatching +OMIM:610742 MOV10 skos:exactMatch hgnc.symbol:MOV10 semapv:UnspecifiedMatching OMIM:610742 MOV10 skos:exactMatch ncbigene:4343 semapv:UnspecifiedMatching +OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch Orphanet:88644 semapv:UnspecifiedMatching OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch UMLS:C1853116 semapv:UnspecifiedMatching -OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 skos:exactMatch orphanet.ordo:88644 semapv:UnspecifiedMatching -OMIM:610745 STRA6 skos:exactMatch hgnc:STRA6 semapv:UnspecifiedMatching +OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:30650 semapv:UnspecifiedMatching +OMIM:610745 STRA6 skos:exactMatch hgnc.symbol:STRA6 semapv:UnspecifiedMatching OMIM:610745 STRA6 skos:exactMatch ncbigene:64220 semapv:UnspecifiedMatching -OMIM:610746 DOLK skos:exactMatch hgnc:DOLK semapv:UnspecifiedMatching +OMIM:610746 DOLK skos:exactMatch hgnc.symbol:23406 semapv:UnspecifiedMatching +OMIM:610746 DOLK skos:exactMatch hgnc.symbol:DOLK semapv:UnspecifiedMatching OMIM:610746 DOLK skos:exactMatch ncbigene:22845 semapv:UnspecifiedMatching -OMIM:610747 SAMD4A skos:exactMatch hgnc:SAMD4A semapv:UnspecifiedMatching +OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:23023 semapv:UnspecifiedMatching +OMIM:610747 SAMD4A skos:exactMatch hgnc.symbol:SAMD4A semapv:UnspecifiedMatching OMIM:610747 SAMD4A skos:exactMatch ncbigene:23034 semapv:UnspecifiedMatching -OMIM:610748 USP28 skos:exactMatch hgnc:USP28 semapv:UnspecifiedMatching +OMIM:610748 USP28 skos:exactMatch hgnc.symbol:12625 semapv:UnspecifiedMatching +OMIM:610748 USP28 skos:exactMatch hgnc.symbol:USP28 semapv:UnspecifiedMatching OMIM:610748 USP28 skos:exactMatch ncbigene:57646 semapv:UnspecifiedMatching -OMIM:610749 KLHL31 skos:exactMatch hgnc:KLHL31 semapv:UnspecifiedMatching +OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:21353 semapv:UnspecifiedMatching +OMIM:610749 KLHL31 skos:exactMatch hgnc.symbol:KLHL31 semapv:UnspecifiedMatching OMIM:610749 KLHL31 skos:exactMatch ncbigene:401265 semapv:UnspecifiedMatching -OMIM:610750 ZCRB1 skos:exactMatch hgnc:ZCRB1 semapv:UnspecifiedMatching +OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:29620 semapv:UnspecifiedMatching +OMIM:610750 ZCRB1 skos:exactMatch hgnc.symbol:ZCRB1 semapv:UnspecifiedMatching OMIM:610750 ZCRB1 skos:exactMatch ncbigene:85437 semapv:UnspecifiedMatching -OMIM:610751 PRTFDC1 skos:exactMatch hgnc:PRTFDC1 semapv:UnspecifiedMatching +OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:23333 semapv:UnspecifiedMatching +OMIM:610751 PRTFDC1 skos:exactMatch hgnc.symbol:PRTFDC1 semapv:UnspecifiedMatching OMIM:610751 PRTFDC1 skos:exactMatch ncbigene:56952 semapv:UnspecifiedMatching -OMIM:610752 UST skos:exactMatch hgnc:UST semapv:UnspecifiedMatching +OMIM:610752 UST skos:exactMatch hgnc.symbol:17223 semapv:UnspecifiedMatching +OMIM:610752 UST skos:exactMatch hgnc.symbol:UST semapv:UnspecifiedMatching OMIM:610752 UST skos:exactMatch ncbigene:10090 semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch UMLS:C1823656 semapv:UnspecifiedMatching -OMIM:610754 WAPL skos:exactMatch hgnc:WAPL semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch hgnc.symbol:23293 semapv:UnspecifiedMatching +OMIM:610754 WAPL skos:exactMatch hgnc.symbol:WAPL semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch ncbigene:23063 semapv:UnspecifiedMatching -OMIM:610757 CCL4L2 skos:exactMatch hgnc:CCL4L2 semapv:UnspecifiedMatching +OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:24066 semapv:UnspecifiedMatching +OMIM:610757 CCL4L2 skos:exactMatch hgnc.symbol:CCL4L2 semapv:UnspecifiedMatching OMIM:610757 CCL4L2 skos:exactMatch ncbigene:9560 semapv:UnspecifiedMatching +OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching -OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch orphanet.ordo:199 semapv:UnspecifiedMatching OMIM:610762 high density lipoprotein cholesterol level quantitative trait locus 6 skos:exactMatch UMLS:C1853096 semapv:UnspecifiedMatching -OMIM:610763 NANP skos:exactMatch hgnc:NANP semapv:UnspecifiedMatching +OMIM:610763 NANP skos:exactMatch hgnc.symbol:16140 semapv:UnspecifiedMatching +OMIM:610763 NANP skos:exactMatch hgnc.symbol:NANP semapv:UnspecifiedMatching OMIM:610763 NANP skos:exactMatch ncbigene:140838 semapv:UnspecifiedMatching -OMIM:610764 TSPOAP1 skos:exactMatch hgnc:TSPOAP1 semapv:UnspecifiedMatching +OMIM:610764 TSPOAP1 skos:exactMatch hgnc.symbol:16831 semapv:UnspecifiedMatching +OMIM:610764 TSPOAP1 skos:exactMatch hgnc.symbol:TSPOAP1 semapv:UnspecifiedMatching OMIM:610764 TSPOAP1 skos:exactMatch ncbigene:9256 semapv:UnspecifiedMatching OMIM:610766 MNS1 skos:exactMatch UMLS:C1826263 semapv:UnspecifiedMatching OMIM:610766 MNS1 skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching -OMIM:610766 MNS1 skos:exactMatch hgnc:MNS1 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:29636 semapv:UnspecifiedMatching +OMIM:610766 MNS1 skos:exactMatch hgnc.symbol:MNS1 semapv:UnspecifiedMatching OMIM:610766 MNS1 skos:exactMatch ncbigene:55329 semapv:UnspecifiedMatching OMIM:610767 ATG16L1 skos:exactMatch UMLS:C1825502 semapv:UnspecifiedMatching OMIM:610767 ATG16L1 skos:exactMatch UMLS:C4310865 semapv:UnspecifiedMatching -OMIM:610767 ATG16L1 skos:exactMatch hgnc:ATG16L1 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:21498 semapv:UnspecifiedMatching +OMIM:610767 ATG16L1 skos:exactMatch hgnc.symbol:ATG16L1 semapv:UnspecifiedMatching OMIM:610767 ATG16L1 skos:exactMatch ncbigene:55054 semapv:UnspecifiedMatching OMIM:610769 NOC3L skos:exactMatch UMLS:C1835848 semapv:UnspecifiedMatching -OMIM:610769 NOC3L skos:exactMatch hgnc:NOC3L semapv:UnspecifiedMatching +OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:24034 semapv:UnspecifiedMatching +OMIM:610769 NOC3L skos:exactMatch hgnc.symbol:NOC3L semapv:UnspecifiedMatching OMIM:610769 NOC3L skos:exactMatch ncbigene:64318 semapv:UnspecifiedMatching OMIM:610770 NOC2L skos:exactMatch UMLS:C1826446 semapv:UnspecifiedMatching -OMIM:610770 NOC2L skos:exactMatch hgnc:NOC2L semapv:UnspecifiedMatching +OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:24517 semapv:UnspecifiedMatching +OMIM:610770 NOC2L skos:exactMatch hgnc.symbol:NOC2L semapv:UnspecifiedMatching OMIM:610770 NOC2L skos:exactMatch ncbigene:26155 semapv:UnspecifiedMatching -OMIM:610771 CHD5 skos:exactMatch hgnc:CHD5 semapv:UnspecifiedMatching +OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:16816 semapv:UnspecifiedMatching +OMIM:610771 CHD5 skos:exactMatch hgnc.symbol:CHD5 semapv:UnspecifiedMatching OMIM:610771 CHD5 skos:exactMatch ncbigene:26038 semapv:UnspecifiedMatching -OMIM:610772 NKX6-3 skos:exactMatch hgnc:NKX6-3 semapv:UnspecifiedMatching +OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:26328 semapv:UnspecifiedMatching +OMIM:610772 NKX6-3 skos:exactMatch hgnc.symbol:NKX6-3 semapv:UnspecifiedMatching OMIM:610772 NKX6-3 skos:exactMatch ncbigene:157848 semapv:UnspecifiedMatching +OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch Orphanet:91130 semapv:UnspecifiedMatching OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch UMLS:C1835845 semapv:UnspecifiedMatching -OMIM:610773 mitochondrial phosphate carrier deficiency skos:exactMatch orphanet.ordo:91130 semapv:UnspecifiedMatching OMIM:610774 CNPY3 skos:exactMatch UMLS:C1420844 semapv:UnspecifiedMatching OMIM:610774 CNPY3 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching -OMIM:610774 CNPY3 skos:exactMatch hgnc:CNPY3 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:11968 semapv:UnspecifiedMatching +OMIM:610774 CNPY3 skos:exactMatch hgnc.symbol:CNPY3 semapv:UnspecifiedMatching OMIM:610774 CNPY3 skos:exactMatch ncbigene:10695 semapv:UnspecifiedMatching -OMIM:610775 TIGAR skos:exactMatch hgnc:TIGAR semapv:UnspecifiedMatching +OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:1185 semapv:UnspecifiedMatching +OMIM:610775 TIGAR skos:exactMatch hgnc.symbol:TIGAR semapv:UnspecifiedMatching OMIM:610775 TIGAR skos:exactMatch ncbigene:57103 semapv:UnspecifiedMatching -OMIM:610776 DRAM1 skos:exactMatch hgnc:DRAM1 semapv:UnspecifiedMatching +OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:25645 semapv:UnspecifiedMatching +OMIM:610776 DRAM1 skos:exactMatch hgnc.symbol:DRAM1 semapv:UnspecifiedMatching OMIM:610776 DRAM1 skos:exactMatch ncbigene:55332 semapv:UnspecifiedMatching -OMIM:610777 NGDN skos:exactMatch hgnc:NGDN semapv:UnspecifiedMatching +OMIM:610777 NGDN skos:exactMatch hgnc.symbol:20271 semapv:UnspecifiedMatching +OMIM:610777 NGDN skos:exactMatch hgnc.symbol:NGDN semapv:UnspecifiedMatching OMIM:610777 NGDN skos:exactMatch ncbigene:25983 semapv:UnspecifiedMatching -OMIM:610778 GNB1L skos:exactMatch hgnc:GNB1L semapv:UnspecifiedMatching +OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:4397 semapv:UnspecifiedMatching +OMIM:610778 GNB1L skos:exactMatch hgnc.symbol:GNB1L semapv:UnspecifiedMatching OMIM:610778 GNB1L skos:exactMatch ncbigene:54584 semapv:UnspecifiedMatching -OMIM:610779 NUBP2 skos:exactMatch hgnc:NUBP2 semapv:UnspecifiedMatching +OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:8042 semapv:UnspecifiedMatching +OMIM:610779 NUBP2 skos:exactMatch hgnc.symbol:NUBP2 semapv:UnspecifiedMatching OMIM:610779 NUBP2 skos:exactMatch ncbigene:10101 semapv:UnspecifiedMatching OMIM:610780 LSG1 skos:exactMatch UMLS:C1825910 semapv:UnspecifiedMatching -OMIM:610780 LSG1 skos:exactMatch hgnc:LSG1 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:25652 semapv:UnspecifiedMatching +OMIM:610780 LSG1 skos:exactMatch hgnc.symbol:LSG1 semapv:UnspecifiedMatching OMIM:610780 LSG1 skos:exactMatch ncbigene:55341 semapv:UnspecifiedMatching -OMIM:610781 GMPR2 skos:exactMatch hgnc:GMPR2 semapv:UnspecifiedMatching +OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:4377 semapv:UnspecifiedMatching +OMIM:610781 GMPR2 skos:exactMatch hgnc.symbol:GMPR2 semapv:UnspecifiedMatching OMIM:610781 GMPR2 skos:exactMatch ncbigene:51292 semapv:UnspecifiedMatching OMIM:610782 MIR29A skos:exactMatch UMLS:C1835841 semapv:UnspecifiedMatching -OMIM:610782 MIR29A skos:exactMatch hgnc:MIR29A semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:31616 semapv:UnspecifiedMatching +OMIM:610782 MIR29A skos:exactMatch hgnc.symbol:MIR29A semapv:UnspecifiedMatching OMIM:610782 MIR29A skos:exactMatch ncbigene:407021 semapv:UnspecifiedMatching OMIM:610783 MIR29B1 skos:exactMatch UMLS:C1835840 semapv:UnspecifiedMatching -OMIM:610783 MIR29B1 skos:exactMatch hgnc:MIR29B1 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:31619 semapv:UnspecifiedMatching +OMIM:610783 MIR29B1 skos:exactMatch hgnc.symbol:MIR29B1 semapv:UnspecifiedMatching OMIM:610783 MIR29B1 skos:exactMatch ncbigene:407024 semapv:UnspecifiedMatching -OMIM:610784 MIR29C skos:exactMatch hgnc:MIR29C semapv:UnspecifiedMatching +OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:31621 semapv:UnspecifiedMatching +OMIM:610784 MIR29C skos:exactMatch hgnc.symbol:MIR29C semapv:UnspecifiedMatching OMIM:610784 MIR29C skos:exactMatch ncbigene:407026 semapv:UnspecifiedMatching -OMIM:610785 PDIK1L skos:exactMatch hgnc:PDIK1L semapv:UnspecifiedMatching +OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:18981 semapv:UnspecifiedMatching +OMIM:610785 PDIK1L skos:exactMatch hgnc.symbol:PDIK1L semapv:UnspecifiedMatching OMIM:610785 PDIK1L skos:exactMatch ncbigene:149420 semapv:UnspecifiedMatching -OMIM:610786 SRCIN1 skos:exactMatch hgnc:SRCIN1 semapv:UnspecifiedMatching +OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:29506 semapv:UnspecifiedMatching +OMIM:610786 SRCIN1 skos:exactMatch hgnc.symbol:SRCIN1 semapv:UnspecifiedMatching OMIM:610786 SRCIN1 skos:exactMatch ncbigene:80725 semapv:UnspecifiedMatching -OMIM:610787 PRAC2 skos:exactMatch hgnc:PRAC2 semapv:UnspecifiedMatching +OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:30143 semapv:UnspecifiedMatching +OMIM:610787 PRAC2 skos:exactMatch hgnc.symbol:PRAC2 semapv:UnspecifiedMatching OMIM:610787 PRAC2 skos:exactMatch ncbigene:360205 semapv:UnspecifiedMatching -OMIM:610788 SLC35B2 skos:exactMatch hgnc:SLC35B2 semapv:UnspecifiedMatching +OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:16872 semapv:UnspecifiedMatching +OMIM:610788 SLC35B2 skos:exactMatch hgnc.symbol:SLC35B2 semapv:UnspecifiedMatching OMIM:610788 SLC35B2 skos:exactMatch ncbigene:347734 semapv:UnspecifiedMatching -OMIM:610789 PDRG1 skos:exactMatch hgnc:PDRG1 semapv:UnspecifiedMatching +OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:16119 semapv:UnspecifiedMatching +OMIM:610789 PDRG1 skos:exactMatch hgnc.symbol:PDRG1 semapv:UnspecifiedMatching OMIM:610789 PDRG1 skos:exactMatch ncbigene:81572 semapv:UnspecifiedMatching -OMIM:610790 SLC35B1 skos:exactMatch hgnc:SLC35B1 semapv:UnspecifiedMatching +OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:20798 semapv:UnspecifiedMatching +OMIM:610790 SLC35B1 skos:exactMatch hgnc.symbol:SLC35B1 semapv:UnspecifiedMatching OMIM:610790 SLC35B1 skos:exactMatch ncbigene:10237 semapv:UnspecifiedMatching OMIM:610791 SLC43A2 skos:exactMatch UMLS:C1539786 semapv:UnspecifiedMatching -OMIM:610791 SLC43A2 skos:exactMatch hgnc:SLC43A2 semapv:UnspecifiedMatching +OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:23087 semapv:UnspecifiedMatching +OMIM:610791 SLC43A2 skos:exactMatch hgnc.symbol:SLC43A2 semapv:UnspecifiedMatching OMIM:610791 SLC43A2 skos:exactMatch ncbigene:124935 semapv:UnspecifiedMatching -OMIM:610792 SLC22A25 skos:exactMatch hgnc:SLC22A25 semapv:UnspecifiedMatching +OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:32935 semapv:UnspecifiedMatching +OMIM:610792 SLC22A25 skos:exactMatch hgnc.symbol:SLC22A25 semapv:UnspecifiedMatching OMIM:610792 SLC22A25 skos:exactMatch ncbigene:387601 semapv:UnspecifiedMatching -OMIM:610793 SLC25A30 skos:exactMatch hgnc:SLC25A30 semapv:UnspecifiedMatching +OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:27371 semapv:UnspecifiedMatching +OMIM:610793 SLC25A30 skos:exactMatch hgnc.symbol:SLC25A30 semapv:UnspecifiedMatching OMIM:610793 SLC25A30 skos:exactMatch ncbigene:253512 semapv:UnspecifiedMatching -OMIM:610794 ZNF323 skos:exactMatch hgnc:ZSCAN31 semapv:UnspecifiedMatching +OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:14097 semapv:UnspecifiedMatching +OMIM:610794 ZNF323 skos:exactMatch hgnc.symbol:ZSCAN31 semapv:UnspecifiedMatching OMIM:610794 ZNF323 skos:exactMatch ncbigene:64288 semapv:UnspecifiedMatching -OMIM:610795 SORBS3 skos:exactMatch hgnc:SORBS3 semapv:UnspecifiedMatching +OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:30907 semapv:UnspecifiedMatching +OMIM:610795 SORBS3 skos:exactMatch hgnc.symbol:SORBS3 semapv:UnspecifiedMatching OMIM:610795 SORBS3 skos:exactMatch ncbigene:10174 semapv:UnspecifiedMatching -OMIM:610796 SLC25A31 skos:exactMatch hgnc:SLC25A31 semapv:UnspecifiedMatching +OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:25319 semapv:UnspecifiedMatching +OMIM:610796 SLC25A31 skos:exactMatch hgnc.symbol:SLC25A31 semapv:UnspecifiedMatching OMIM:610796 SLC25A31 skos:exactMatch ncbigene:83447 semapv:UnspecifiedMatching OMIM:610800 ATG10 skos:exactMatch UMLS:C1825501 semapv:UnspecifiedMatching -OMIM:610800 ATG10 skos:exactMatch hgnc:ATG10 semapv:UnspecifiedMatching +OMIM:610800 ATG10 skos:exactMatch hgnc.symbol:20315 semapv:UnspecifiedMatching +OMIM:610800 ATG10 skos:exactMatch hgnc.symbol:ATG10 semapv:UnspecifiedMatching OMIM:610800 ATG10 skos:exactMatch ncbigene:83734 semapv:UnspecifiedMatching -OMIM:610801 SLC41A1 skos:exactMatch hgnc:SLC41A1 semapv:UnspecifiedMatching +OMIM:610801 SLC41A1 skos:exactMatch hgnc.symbol:19429 semapv:UnspecifiedMatching +OMIM:610801 SLC41A1 skos:exactMatch hgnc.symbol:SLC41A1 semapv:UnspecifiedMatching OMIM:610801 SLC41A1 skos:exactMatch ncbigene:254428 semapv:UnspecifiedMatching -OMIM:610802 SLC41A2 skos:exactMatch hgnc:SLC41A2 semapv:UnspecifiedMatching +OMIM:610802 SLC41A2 skos:exactMatch hgnc.symbol:31045 semapv:UnspecifiedMatching +OMIM:610802 SLC41A2 skos:exactMatch hgnc.symbol:SLC41A2 semapv:UnspecifiedMatching OMIM:610802 SLC41A2 skos:exactMatch ncbigene:84102 semapv:UnspecifiedMatching -OMIM:610803 SLC41A3 skos:exactMatch hgnc:SLC41A3 semapv:UnspecifiedMatching +OMIM:610803 SLC41A3 skos:exactMatch hgnc.symbol:31046 semapv:UnspecifiedMatching +OMIM:610803 SLC41A3 skos:exactMatch hgnc.symbol:SLC41A3 semapv:UnspecifiedMatching OMIM:610803 SLC41A3 skos:exactMatch ncbigene:54946 semapv:UnspecifiedMatching -OMIM:610804 SLC35D1 skos:exactMatch hgnc:SLC35D1 semapv:UnspecifiedMatching +OMIM:610804 SLC35D1 skos:exactMatch hgnc.symbol:20800 semapv:UnspecifiedMatching +OMIM:610804 SLC35D1 skos:exactMatch hgnc.symbol:SLC35D1 semapv:UnspecifiedMatching OMIM:610804 SLC35D1 skos:exactMatch ncbigene:23169 semapv:UnspecifiedMatching OMIM:610805 congenital anomalies of kidney and urinary tract 1 skos:exactMatch UMLS:C1835826 semapv:UnspecifiedMatching -OMIM:610806 TBC1D3C skos:exactMatch hgnc:TBC1D3C semapv:UnspecifiedMatching +OMIM:610806 TBC1D3C skos:exactMatch hgnc.symbol:24889 semapv:UnspecifiedMatching +OMIM:610806 TBC1D3C skos:exactMatch hgnc.symbol:TBC1D3C semapv:UnspecifiedMatching OMIM:610806 TBC1D3C skos:exactMatch ncbigene:414060 semapv:UnspecifiedMatching -OMIM:610807 TBC1D3D skos:exactMatch hgnc:TBC1D3D semapv:UnspecifiedMatching +OMIM:610807 TBC1D3D skos:exactMatch hgnc.symbol:28944 semapv:UnspecifiedMatching +OMIM:610807 TBC1D3D skos:exactMatch hgnc.symbol:TBC1D3D semapv:UnspecifiedMatching OMIM:610807 TBC1D3D skos:exactMatch ncbigene:101060389 semapv:UnspecifiedMatching -OMIM:610808 TBC1D3E skos:exactMatch hgnc:TBC1D3E semapv:UnspecifiedMatching +OMIM:610808 TBC1D3E skos:exactMatch hgnc.symbol:27071 semapv:UnspecifiedMatching +OMIM:610808 TBC1D3E skos:exactMatch hgnc.symbol:TBC1D3E semapv:UnspecifiedMatching OMIM:610808 TBC1D3E skos:exactMatch ncbigene:102723859 semapv:UnspecifiedMatching -OMIM:610809 TBC1D3F skos:exactMatch hgnc:TBC1D3F semapv:UnspecifiedMatching +OMIM:610809 TBC1D3F skos:exactMatch hgnc.symbol:18257 semapv:UnspecifiedMatching +OMIM:610809 TBC1D3F skos:exactMatch hgnc.symbol:TBC1D3F semapv:UnspecifiedMatching OMIM:610809 TBC1D3F skos:exactMatch ncbigene:84218 semapv:UnspecifiedMatching -OMIM:610810 TBC1D3G skos:exactMatch hgnc:TBC1D3G semapv:UnspecifiedMatching +OMIM:610810 TBC1D3G skos:exactMatch hgnc.symbol:29860 semapv:UnspecifiedMatching +OMIM:610810 TBC1D3G skos:exactMatch hgnc.symbol:TBC1D3G semapv:UnspecifiedMatching OMIM:610810 TBC1D3G skos:exactMatch ncbigene:101060321 semapv:UnspecifiedMatching -OMIM:610811 TBC1D3H skos:exactMatch hgnc:TBC1D3H semapv:UnspecifiedMatching +OMIM:610811 TBC1D3H skos:exactMatch hgnc.symbol:30708 semapv:UnspecifiedMatching +OMIM:610811 TBC1D3H skos:exactMatch hgnc.symbol:TBC1D3H semapv:UnspecifiedMatching OMIM:610811 TBC1D3H skos:exactMatch ncbigene:729877 semapv:UnspecifiedMatching -OMIM:610812 HYDIN skos:exactMatch hgnc:HYDIN semapv:UnspecifiedMatching +OMIM:610812 HYDIN skos:exactMatch hgnc.symbol:19368 semapv:UnspecifiedMatching +OMIM:610812 HYDIN skos:exactMatch hgnc.symbol:HYDIN semapv:UnspecifiedMatching OMIM:610812 HYDIN skos:exactMatch ncbigene:54768 semapv:UnspecifiedMatching -OMIM:610813 HYDIN2 skos:exactMatch hgnc:HYDIN2 semapv:UnspecifiedMatching +OMIM:610813 HYDIN2 skos:exactMatch hgnc.symbol:33129 semapv:UnspecifiedMatching +OMIM:610813 HYDIN2 skos:exactMatch hgnc.symbol:HYDIN2 semapv:UnspecifiedMatching OMIM:610813 HYDIN2 skos:exactMatch ncbigene:100288805 semapv:UnspecifiedMatching OMIM:610816 SLC25A33 skos:exactMatch UMLS:C1822743 semapv:UnspecifiedMatching -OMIM:610816 SLC25A33 skos:exactMatch hgnc:SLC25A33 semapv:UnspecifiedMatching +OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:29681 semapv:UnspecifiedMatching +OMIM:610816 SLC25A33 skos:exactMatch hgnc.symbol:SLC25A33 semapv:UnspecifiedMatching OMIM:610816 SLC25A33 skos:exactMatch ncbigene:84275 semapv:UnspecifiedMatching -OMIM:610817 SLC25A34 skos:exactMatch hgnc:SLC25A34 semapv:UnspecifiedMatching +OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:27653 semapv:UnspecifiedMatching +OMIM:610817 SLC25A34 skos:exactMatch hgnc.symbol:SLC25A34 semapv:UnspecifiedMatching OMIM:610817 SLC25A34 skos:exactMatch ncbigene:284723 semapv:UnspecifiedMatching -OMIM:610818 SLC25A35 skos:exactMatch hgnc:SLC25A35 semapv:UnspecifiedMatching +OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:31921 semapv:UnspecifiedMatching +OMIM:610818 SLC25A35 skos:exactMatch hgnc.symbol:SLC25A35 semapv:UnspecifiedMatching OMIM:610818 SLC25A35 skos:exactMatch ncbigene:399512 semapv:UnspecifiedMatching -OMIM:610819 SLC25A38 skos:exactMatch hgnc:SLC25A38 semapv:UnspecifiedMatching +OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:26054 semapv:UnspecifiedMatching +OMIM:610819 SLC25A38 skos:exactMatch hgnc.symbol:SLC25A38 semapv:UnspecifiedMatching OMIM:610819 SLC25A38 skos:exactMatch ncbigene:54977 semapv:UnspecifiedMatching -OMIM:610820 SLC25A39 skos:exactMatch hgnc:SLC25A39 semapv:UnspecifiedMatching +OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:24279 semapv:UnspecifiedMatching +OMIM:610820 SLC25A39 skos:exactMatch hgnc.symbol:SLC25A39 semapv:UnspecifiedMatching OMIM:610820 SLC25A39 skos:exactMatch ncbigene:51629 semapv:UnspecifiedMatching -OMIM:610821 SLC25A40 skos:exactMatch hgnc:SLC25A40 semapv:UnspecifiedMatching +OMIM:610821 SLC25A40 skos:exactMatch hgnc.symbol:29680 semapv:UnspecifiedMatching +OMIM:610821 SLC25A40 skos:exactMatch hgnc.symbol:SLC25A40 semapv:UnspecifiedMatching OMIM:610821 SLC25A40 skos:exactMatch ncbigene:55972 semapv:UnspecifiedMatching -OMIM:610822 SLC25A41 skos:exactMatch hgnc:SLC25A41 semapv:UnspecifiedMatching +OMIM:610822 SLC25A41 skos:exactMatch hgnc.symbol:28533 semapv:UnspecifiedMatching +OMIM:610822 SLC25A41 skos:exactMatch hgnc.symbol:SLC25A41 semapv:UnspecifiedMatching OMIM:610822 SLC25A41 skos:exactMatch ncbigene:284427 semapv:UnspecifiedMatching -OMIM:610823 SLC25A42 skos:exactMatch hgnc:SLC25A42 semapv:UnspecifiedMatching +OMIM:610823 SLC25A42 skos:exactMatch hgnc.symbol:28380 semapv:UnspecifiedMatching +OMIM:610823 SLC25A42 skos:exactMatch hgnc.symbol:SLC25A42 semapv:UnspecifiedMatching OMIM:610823 SLC25A42 skos:exactMatch ncbigene:284439 semapv:UnspecifiedMatching -OMIM:610824 SLC25A44 skos:exactMatch hgnc:SLC25A44 semapv:UnspecifiedMatching +OMIM:610824 SLC25A44 skos:exactMatch hgnc.symbol:29036 semapv:UnspecifiedMatching +OMIM:610824 SLC25A44 skos:exactMatch hgnc.symbol:SLC25A44 semapv:UnspecifiedMatching OMIM:610824 SLC25A44 skos:exactMatch ncbigene:9673 semapv:UnspecifiedMatching -OMIM:610825 SLC25A45 skos:exactMatch hgnc:SLC25A45 semapv:UnspecifiedMatching +OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:27442 semapv:UnspecifiedMatching +OMIM:610825 SLC25A45 skos:exactMatch hgnc.symbol:SLC25A45 semapv:UnspecifiedMatching OMIM:610825 SLC25A45 skos:exactMatch ncbigene:283130 semapv:UnspecifiedMatching -OMIM:610826 SLC25A46 skos:exactMatch hgnc:SLC25A46 semapv:UnspecifiedMatching +OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:25198 semapv:UnspecifiedMatching +OMIM:610826 SLC25A46 skos:exactMatch hgnc.symbol:SLC25A46 semapv:UnspecifiedMatching OMIM:610826 SLC25A46 skos:exactMatch ncbigene:91137 semapv:UnspecifiedMatching -OMIM:610827 ZNF335 skos:exactMatch hgnc:ZNF335 semapv:UnspecifiedMatching +OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:15807 semapv:UnspecifiedMatching +OMIM:610827 ZNF335 skos:exactMatch hgnc.symbol:ZNF335 semapv:UnspecifiedMatching OMIM:610827 ZNF335 skos:exactMatch ncbigene:63925 semapv:UnspecifiedMatching -OMIM:610831 TBC1D10C skos:exactMatch hgnc:TBC1D10C semapv:UnspecifiedMatching +OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:24702 semapv:UnspecifiedMatching +OMIM:610831 TBC1D10C skos:exactMatch hgnc.symbol:TBC1D10C semapv:UnspecifiedMatching OMIM:610831 TBC1D10C skos:exactMatch ncbigene:374403 semapv:UnspecifiedMatching OMIM:610833 NAA20 skos:exactMatch UMLS:C1423824 semapv:UnspecifiedMatching -OMIM:610833 NAA20 skos:exactMatch hgnc:NAA20 semapv:UnspecifiedMatching +OMIM:610833 NAA20 skos:exactMatch hgnc.symbol:15908 semapv:UnspecifiedMatching +OMIM:610833 NAA20 skos:exactMatch hgnc.symbol:NAA20 semapv:UnspecifiedMatching OMIM:610833 NAA20 skos:exactMatch ncbigene:51126 semapv:UnspecifiedMatching OMIM:610834 NAA50 skos:exactMatch UMLS:C1826357 semapv:UnspecifiedMatching -OMIM:610834 NAA50 skos:exactMatch hgnc:NAA50 semapv:UnspecifiedMatching +OMIM:610834 NAA50 skos:exactMatch hgnc.symbol:29533 semapv:UnspecifiedMatching +OMIM:610834 NAA50 skos:exactMatch hgnc.symbol:NAA50 semapv:UnspecifiedMatching OMIM:610834 NAA50 skos:exactMatch ncbigene:80218 semapv:UnspecifiedMatching -OMIM:610835 NARG2 skos:exactMatch hgnc:ICE2 semapv:UnspecifiedMatching +OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:29885 semapv:UnspecifiedMatching +OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:ICE2 semapv:UnspecifiedMatching OMIM:610835 NARG2 skos:exactMatch ncbigene:79664 semapv:UnspecifiedMatching -OMIM:610837 BCL2L12 skos:exactMatch hgnc:BCL2L12 semapv:UnspecifiedMatching +OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:13787 semapv:UnspecifiedMatching +OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:BCL2L12 semapv:UnspecifiedMatching OMIM:610837 BCL2L12 skos:exactMatch ncbigene:83596 semapv:UnspecifiedMatching +OMIM:610840 mitral valve prolapse 3 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching OMIM:610840 mitral valve prolapse 3 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching -OMIM:610840 mitral valve prolapse 3 skos:exactMatch orphanet.ordo:741 semapv:UnspecifiedMatching -OMIM:610841 STIM2 skos:exactMatch hgnc:STIM2 semapv:UnspecifiedMatching +OMIM:610841 STIM2 skos:exactMatch hgnc.symbol:19205 semapv:UnspecifiedMatching +OMIM:610841 STIM2 skos:exactMatch hgnc.symbol:STIM2 semapv:UnspecifiedMatching OMIM:610841 STIM2 skos:exactMatch ncbigene:57620 semapv:UnspecifiedMatching -OMIM:610843 UQCR10 skos:exactMatch hgnc:UQCR10 semapv:UnspecifiedMatching +OMIM:610843 UQCR10 skos:exactMatch hgnc.symbol:30863 semapv:UnspecifiedMatching +OMIM:610843 UQCR10 skos:exactMatch hgnc.symbol:UQCR10 semapv:UnspecifiedMatching OMIM:610843 UQCR10 skos:exactMatch ncbigene:29796 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C1420344 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C1858479 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C1865864 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch UMLS:C4225253 semapv:UnspecifiedMatching -OMIM:610844 SPG11 skos:exactMatch hgnc:SPG11 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:11226 semapv:UnspecifiedMatching +OMIM:610844 SPG11 skos:exactMatch hgnc.symbol:SPG11 semapv:UnspecifiedMatching OMIM:610844 SPG11 skos:exactMatch ncbigene:80208 semapv:UnspecifiedMatching -OMIM:610845 SLC35B3 skos:exactMatch hgnc:SLC35B3 semapv:UnspecifiedMatching +OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:21601 semapv:UnspecifiedMatching +OMIM:610845 SLC35B3 skos:exactMatch hgnc.symbol:SLC35B3 semapv:UnspecifiedMatching OMIM:610845 SLC35B3 skos:exactMatch ncbigene:51000 semapv:UnspecifiedMatching -OMIM:610846 LRRC10 skos:exactMatch hgnc:LRRC10 semapv:UnspecifiedMatching +OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:20264 semapv:UnspecifiedMatching +OMIM:610846 LRRC10 skos:exactMatch hgnc.symbol:LRRC10 semapv:UnspecifiedMatching OMIM:610846 LRRC10 skos:exactMatch ncbigene:376132 semapv:UnspecifiedMatching -OMIM:610847 ZNF322 skos:exactMatch hgnc:ZNF322 semapv:UnspecifiedMatching +OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:23640 semapv:UnspecifiedMatching +OMIM:610847 ZNF322 skos:exactMatch hgnc.symbol:ZNF322 semapv:UnspecifiedMatching OMIM:610847 ZNF322 skos:exactMatch ncbigene:79692 semapv:UnspecifiedMatching -OMIM:610848 REP15 skos:exactMatch hgnc:REP15 semapv:UnspecifiedMatching +OMIM:610848 REP15 skos:exactMatch hgnc.symbol:33748 semapv:UnspecifiedMatching +OMIM:610848 REP15 skos:exactMatch hgnc.symbol:REP15 semapv:UnspecifiedMatching OMIM:610848 REP15 skos:exactMatch ncbigene:387849 semapv:UnspecifiedMatching -OMIM:610849 TTLL6 skos:exactMatch hgnc:TTLL6 semapv:UnspecifiedMatching +OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:26664 semapv:UnspecifiedMatching +OMIM:610849 TTLL6 skos:exactMatch hgnc.symbol:TTLL6 semapv:UnspecifiedMatching OMIM:610849 TTLL6 skos:exactMatch ncbigene:284076 semapv:UnspecifiedMatching -OMIM:610850 XAB2 skos:exactMatch hgnc:XAB2 semapv:UnspecifiedMatching +OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:14089 semapv:UnspecifiedMatching +OMIM:610850 XAB2 skos:exactMatch hgnc.symbol:XAB2 semapv:UnspecifiedMatching OMIM:610850 XAB2 skos:exactMatch ncbigene:56949 semapv:UnspecifiedMatching -OMIM:610851 AP1AR skos:exactMatch hgnc:AP1AR semapv:UnspecifiedMatching +OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:28808 semapv:UnspecifiedMatching +OMIM:610851 AP1AR skos:exactMatch hgnc.symbol:AP1AR semapv:UnspecifiedMatching OMIM:610851 AP1AR skos:exactMatch ncbigene:55435 semapv:UnspecifiedMatching OMIM:610853 AHCTF1 skos:exactMatch UMLS:C1826615 semapv:UnspecifiedMatching -OMIM:610853 AHCTF1 skos:exactMatch hgnc:AHCTF1 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:24618 semapv:UnspecifiedMatching +OMIM:610853 AHCTF1 skos:exactMatch hgnc.symbol:AHCTF1 semapv:UnspecifiedMatching OMIM:610853 AHCTF1 skos:exactMatch ncbigene:25909 semapv:UnspecifiedMatching -OMIM:610855 ANKRD26 skos:exactMatch hgnc:ANKRD26 semapv:UnspecifiedMatching +OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:29186 semapv:UnspecifiedMatching +OMIM:610855 ANKRD26 skos:exactMatch hgnc.symbol:ANKRD26 semapv:UnspecifiedMatching OMIM:610855 ANKRD26 skos:exactMatch ncbigene:22852 semapv:UnspecifiedMatching -OMIM:610856 ANKRD30A skos:exactMatch hgnc:ANKRD30A semapv:UnspecifiedMatching +OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:17234 semapv:UnspecifiedMatching +OMIM:610856 ANKRD30A skos:exactMatch hgnc.symbol:ANKRD30A semapv:UnspecifiedMatching OMIM:610856 ANKRD30A skos:exactMatch ncbigene:91074 semapv:UnspecifiedMatching -OMIM:610857 MUCL1 skos:exactMatch hgnc:MUCL1 semapv:UnspecifiedMatching +OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:30588 semapv:UnspecifiedMatching +OMIM:610857 MUCL1 skos:exactMatch hgnc.symbol:MUCL1 semapv:UnspecifiedMatching OMIM:610857 MUCL1 skos:exactMatch ncbigene:118430 semapv:UnspecifiedMatching -OMIM:610858 RTRAF skos:exactMatch hgnc:RTRAF semapv:UnspecifiedMatching +OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:23169 semapv:UnspecifiedMatching +OMIM:610858 RTRAF skos:exactMatch hgnc.symbol:RTRAF semapv:UnspecifiedMatching OMIM:610858 RTRAF skos:exactMatch ncbigene:51637 semapv:UnspecifiedMatching OMIM:610859 CARMIL2 skos:exactMatch UMLS:C2239891 semapv:UnspecifiedMatching OMIM:610859 CARMIL2 skos:exactMatch UMLS:C4748304 semapv:UnspecifiedMatching -OMIM:610859 CARMIL2 skos:exactMatch hgnc:CARMIL2 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:27089 semapv:UnspecifiedMatching +OMIM:610859 CARMIL2 skos:exactMatch hgnc.symbol:CARMIL2 semapv:UnspecifiedMatching OMIM:610859 CARMIL2 skos:exactMatch ncbigene:146206 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C1412279 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C3695005 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C3695006 semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch UMLS:C3695007 semapv:UnspecifiedMatching -OMIM:610860 AGL skos:exactMatch hgnc:AGL semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch hgnc.symbol:321 semapv:UnspecifiedMatching +OMIM:610860 AGL skos:exactMatch hgnc.symbol:AGL semapv:UnspecifiedMatching OMIM:610860 AGL skos:exactMatch ncbigene:178 semapv:UnspecifiedMatching OMIM:610861 SYNE3 skos:exactMatch UMLS:C1426488 semapv:UnspecifiedMatching -OMIM:610861 SYNE3 skos:exactMatch hgnc:SYNE3 semapv:UnspecifiedMatching +OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:19861 semapv:UnspecifiedMatching +OMIM:610861 SYNE3 skos:exactMatch hgnc.symbol:SYNE3 semapv:UnspecifiedMatching OMIM:610861 SYNE3 skos:exactMatch ncbigene:161176 semapv:UnspecifiedMatching -OMIM:610862 DEGS2 skos:exactMatch hgnc:DEGS2 semapv:UnspecifiedMatching +OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:20113 semapv:UnspecifiedMatching +OMIM:610862 DEGS2 skos:exactMatch hgnc.symbol:DEGS2 semapv:UnspecifiedMatching OMIM:610862 DEGS2 skos:exactMatch ncbigene:123099 semapv:UnspecifiedMatching -OMIM:610863 GNB4 skos:exactMatch hgnc:GNB4 semapv:UnspecifiedMatching +OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:20731 semapv:UnspecifiedMatching +OMIM:610863 GNB4 skos:exactMatch hgnc.symbol:GNB4 semapv:UnspecifiedMatching OMIM:610863 GNB4 skos:exactMatch ncbigene:59345 semapv:UnspecifiedMatching -OMIM:610864 FLVCR1-DT skos:exactMatch hgnc:FLVCR1-DT semapv:UnspecifiedMatching +OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:39077 semapv:UnspecifiedMatching +OMIM:610864 FLVCR1-DT skos:exactMatch hgnc.symbol:FLVCR1-DT semapv:UnspecifiedMatching OMIM:610864 FLVCR1-DT skos:exactMatch ncbigene:642946 semapv:UnspecifiedMatching -OMIM:610865 FLVCR2 skos:exactMatch hgnc:FLVCR2 semapv:UnspecifiedMatching +OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:20105 semapv:UnspecifiedMatching +OMIM:610865 FLVCR2 skos:exactMatch hgnc.symbol:FLVCR2 semapv:UnspecifiedMatching OMIM:610865 FLVCR2 skos:exactMatch ncbigene:55640 semapv:UnspecifiedMatching -OMIM:610866 UCKL1 skos:exactMatch hgnc:UCKL1 semapv:UnspecifiedMatching +OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:15938 semapv:UnspecifiedMatching +OMIM:610866 UCKL1 skos:exactMatch hgnc.symbol:UCKL1 semapv:UnspecifiedMatching OMIM:610866 UCKL1 skos:exactMatch ncbigene:54963 semapv:UnspecifiedMatching -OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc:LRRTM1 semapv:UnspecifiedMatching +OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:19408 semapv:UnspecifiedMatching +OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch hgnc.symbol:LRRTM1 semapv:UnspecifiedMatching OMIM:610867 leucine-rich repeat transmembrane protein 1: lrrtm1 skos:exactMatch ncbigene:347730 semapv:UnspecifiedMatching -OMIM:610868 LRRTM2 skos:exactMatch hgnc:LRRTM2 semapv:UnspecifiedMatching +OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:19409 semapv:UnspecifiedMatching +OMIM:610868 LRRTM2 skos:exactMatch hgnc.symbol:LRRTM2 semapv:UnspecifiedMatching OMIM:610868 LRRTM2 skos:exactMatch ncbigene:26045 semapv:UnspecifiedMatching -OMIM:610869 LRRTM3 skos:exactMatch hgnc:LRRTM3 semapv:UnspecifiedMatching +OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:19410 semapv:UnspecifiedMatching +OMIM:610869 LRRTM3 skos:exactMatch hgnc.symbol:LRRTM3 semapv:UnspecifiedMatching OMIM:610869 LRRTM3 skos:exactMatch ncbigene:347731 semapv:UnspecifiedMatching OMIM:610870 LRRTM4 skos:exactMatch UMLS:C1537619 semapv:UnspecifiedMatching -OMIM:610870 LRRTM4 skos:exactMatch hgnc:LRRTM4 semapv:UnspecifiedMatching +OMIM:610870 LRRTM4 skos:exactMatch hgnc.symbol:19411 semapv:UnspecifiedMatching +OMIM:610870 LRRTM4 skos:exactMatch hgnc.symbol:LRRTM4 semapv:UnspecifiedMatching OMIM:610870 LRRTM4 skos:exactMatch ncbigene:80059 semapv:UnspecifiedMatching -OMIM:610872 IBRDC3 skos:exactMatch hgnc:RNF19B semapv:UnspecifiedMatching +OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:26886 semapv:UnspecifiedMatching +OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:RNF19B semapv:UnspecifiedMatching OMIM:610872 IBRDC3 skos:exactMatch ncbigene:127544 semapv:UnspecifiedMatching -OMIM:610874 SPATC1 skos:exactMatch hgnc:SPATC1 semapv:UnspecifiedMatching +OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:30510 semapv:UnspecifiedMatching +OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:SPATC1 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch ncbigene:375686 semapv:UnspecifiedMatching -OMIM:610875 SAPS1 skos:exactMatch hgnc:PPP6R1 semapv:UnspecifiedMatching +OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:29195 semapv:UnspecifiedMatching +OMIM:610875 SAPS1 skos:exactMatch hgnc.symbol:PPP6R1 semapv:UnspecifiedMatching OMIM:610875 SAPS1 skos:exactMatch ncbigene:22870 semapv:UnspecifiedMatching -OMIM:610876 HACE1 skos:exactMatch hgnc:HACE1 semapv:UnspecifiedMatching +OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:21033 semapv:UnspecifiedMatching +OMIM:610876 HACE1 skos:exactMatch hgnc.symbol:HACE1 semapv:UnspecifiedMatching OMIM:610876 HACE1 skos:exactMatch ncbigene:57531 semapv:UnspecifiedMatching -OMIM:610877 SAPS2 skos:exactMatch hgnc:PPP6R2 semapv:UnspecifiedMatching +OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:19253 semapv:UnspecifiedMatching +OMIM:610877 SAPS2 skos:exactMatch hgnc.symbol:PPP6R2 semapv:UnspecifiedMatching OMIM:610877 SAPS2 skos:exactMatch ncbigene:9701 semapv:UnspecifiedMatching -OMIM:610879 SAPS3 skos:exactMatch hgnc:PPP6R3 semapv:UnspecifiedMatching +OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:1173 semapv:UnspecifiedMatching +OMIM:610879 SAPS3 skos:exactMatch hgnc.symbol:PPP6R3 semapv:UnspecifiedMatching OMIM:610879 SAPS3 skos:exactMatch ncbigene:55291 semapv:UnspecifiedMatching -OMIM:610880 C11ORF24 skos:exactMatch hgnc:C11orf24 semapv:UnspecifiedMatching +OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:1174 semapv:UnspecifiedMatching +OMIM:610880 C11ORF24 skos:exactMatch hgnc.symbol:C11orf24 semapv:UnspecifiedMatching OMIM:610880 C11ORF24 skos:exactMatch ncbigene:53838 semapv:UnspecifiedMatching OMIM:610881 KMT5B skos:exactMatch UMLS:C1539900 semapv:UnspecifiedMatching OMIM:610881 KMT5B skos:exactMatch UMLS:C4540474 semapv:UnspecifiedMatching -OMIM:610881 KMT5B skos:exactMatch hgnc:KMT5B semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:24283 semapv:UnspecifiedMatching +OMIM:610881 KMT5B skos:exactMatch hgnc.symbol:KMT5B semapv:UnspecifiedMatching OMIM:610881 KMT5B skos:exactMatch ncbigene:51111 semapv:UnspecifiedMatching -OMIM:610882 SSNA1 skos:exactMatch hgnc:SSNA1 semapv:UnspecifiedMatching +OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:11321 semapv:UnspecifiedMatching +OMIM:610882 SSNA1 skos:exactMatch hgnc.symbol:SSNA1 semapv:UnspecifiedMatching OMIM:610882 SSNA1 skos:exactMatch ncbigene:8636 semapv:UnspecifiedMatching +OMIM:610883 potocki-lupski syndrome skos:exactMatch Orphanet:1713 semapv:UnspecifiedMatching OMIM:610883 potocki-lupski syndrome skos:exactMatch UMLS:C2931246 semapv:UnspecifiedMatching -OMIM:610883 potocki-lupski syndrome skos:exactMatch orphanet.ordo:1713 semapv:UnspecifiedMatching -OMIM:610884 FAAP24 skos:exactMatch hgnc:FAAP24 semapv:UnspecifiedMatching +OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:28467 semapv:UnspecifiedMatching +OMIM:610884 FAAP24 skos:exactMatch hgnc.symbol:FAAP24 semapv:UnspecifiedMatching OMIM:610884 FAAP24 skos:exactMatch ncbigene:91442 semapv:UnspecifiedMatching OMIM:610885 EME1 skos:exactMatch UMLS:C1428432 semapv:UnspecifiedMatching -OMIM:610885 EME1 skos:exactMatch hgnc:EME1 semapv:UnspecifiedMatching +OMIM:610885 EME1 skos:exactMatch hgnc.symbol:24965 semapv:UnspecifiedMatching +OMIM:610885 EME1 skos:exactMatch hgnc.symbol:EME1 semapv:UnspecifiedMatching OMIM:610885 EME1 skos:exactMatch ncbigene:146956 semapv:UnspecifiedMatching OMIM:610886 EME2 skos:exactMatch UMLS:C1428650 semapv:UnspecifiedMatching -OMIM:610886 EME2 skos:exactMatch hgnc:EME2 semapv:UnspecifiedMatching +OMIM:610886 EME2 skos:exactMatch hgnc.symbol:27289 semapv:UnspecifiedMatching +OMIM:610886 EME2 skos:exactMatch hgnc.symbol:EME2 semapv:UnspecifiedMatching OMIM:610886 EME2 skos:exactMatch ncbigene:197342 semapv:UnspecifiedMatching -OMIM:610887 POLN skos:exactMatch hgnc:POLN semapv:UnspecifiedMatching +OMIM:610887 POLN skos:exactMatch hgnc.symbol:18870 semapv:UnspecifiedMatching +OMIM:610887 POLN skos:exactMatch hgnc.symbol:POLN semapv:UnspecifiedMatching OMIM:610887 POLN skos:exactMatch ncbigene:353497 semapv:UnspecifiedMatching OMIM:610888 gastric cancer-related gene 224 skos:exactMatch ncbigene:360219 semapv:UnspecifiedMatching -OMIM:610889 IPO11 skos:exactMatch hgnc:IPO11 semapv:UnspecifiedMatching +OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:20628 semapv:UnspecifiedMatching +OMIM:610889 IPO11 skos:exactMatch hgnc.symbol:IPO11 semapv:UnspecifiedMatching OMIM:610889 IPO11 skos:exactMatch ncbigene:51194 semapv:UnspecifiedMatching -OMIM:610890 RGS7BP skos:exactMatch hgnc:RGS7BP semapv:UnspecifiedMatching +OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:23271 semapv:UnspecifiedMatching +OMIM:610890 RGS7BP skos:exactMatch hgnc.symbol:RGS7BP semapv:UnspecifiedMatching OMIM:610890 RGS7BP skos:exactMatch ncbigene:401190 semapv:UnspecifiedMatching -OMIM:610891 FAM102A skos:exactMatch hgnc:EEIG1 semapv:UnspecifiedMatching +OMIM:610891 FAM102A skos:exactMatch hgnc.symbol:EEIG1 semapv:UnspecifiedMatching OMIM:610891 FAM102A skos:exactMatch ncbigene:399665 semapv:UnspecifiedMatching -OMIM:610892 SYT14L skos:exactMatch hgnc:SYT14P1 semapv:UnspecifiedMatching +OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:33429 semapv:UnspecifiedMatching +OMIM:610892 SYT14L skos:exactMatch hgnc.symbol:SYT14P1 semapv:UnspecifiedMatching OMIM:610892 SYT14L skos:exactMatch ncbigene:401135 semapv:UnspecifiedMatching OMIM:610893 CHMP2A skos:exactMatch UMLS:C1538455 semapv:UnspecifiedMatching -OMIM:610893 CHMP2A skos:exactMatch hgnc:CHMP2A semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:30216 semapv:UnspecifiedMatching +OMIM:610893 CHMP2A skos:exactMatch hgnc.symbol:CHMP2A semapv:UnspecifiedMatching OMIM:610893 CHMP2A skos:exactMatch ncbigene:27243 semapv:UnspecifiedMatching -OMIM:610894 NRG4 skos:exactMatch hgnc:NRG4 semapv:UnspecifiedMatching +OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:29862 semapv:UnspecifiedMatching +OMIM:610894 NRG4 skos:exactMatch hgnc.symbol:NRG4 semapv:UnspecifiedMatching OMIM:610894 NRG4 skos:exactMatch ncbigene:145957 semapv:UnspecifiedMatching -OMIM:610895 WFIKKN2 skos:exactMatch hgnc:WFIKKN2 semapv:UnspecifiedMatching +OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:30916 semapv:UnspecifiedMatching +OMIM:610895 WFIKKN2 skos:exactMatch hgnc.symbol:WFIKKN2 semapv:UnspecifiedMatching OMIM:610895 WFIKKN2 skos:exactMatch ncbigene:124857 semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch UMLS:C1538458 semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch UMLS:C4017230 semapv:UnspecifiedMatching -OMIM:610897 CHMP4B skos:exactMatch hgnc:CHMP4B semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:16171 semapv:UnspecifiedMatching +OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:CHMP4B semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch ncbigene:128866 semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch UMLS:C1538459 semapv:UnspecifiedMatching -OMIM:610899 CHMP4C skos:exactMatch hgnc:CHMP4C semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:30599 semapv:UnspecifiedMatching +OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:CHMP4C semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch ncbigene:92421 semapv:UnspecifiedMatching OMIM:610900 CHMP5 skos:exactMatch UMLS:C1538460 semapv:UnspecifiedMatching -OMIM:610900 CHMP5 skos:exactMatch hgnc:CHMP5 semapv:UnspecifiedMatching +OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:26942 semapv:UnspecifiedMatching +OMIM:610900 CHMP5 skos:exactMatch hgnc.symbol:CHMP5 semapv:UnspecifiedMatching OMIM:610900 CHMP5 skos:exactMatch ncbigene:51510 semapv:UnspecifiedMatching OMIM:610901 CHMP6 skos:exactMatch UMLS:C1538461 semapv:UnspecifiedMatching -OMIM:610901 CHMP6 skos:exactMatch hgnc:CHMP6 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:25675 semapv:UnspecifiedMatching +OMIM:610901 CHMP6 skos:exactMatch hgnc.symbol:CHMP6 semapv:UnspecifiedMatching OMIM:610901 CHMP6 skos:exactMatch ncbigene:79643 semapv:UnspecifiedMatching -OMIM:610902 VTA1 skos:exactMatch hgnc:VTA1 semapv:UnspecifiedMatching +OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:20954 semapv:UnspecifiedMatching +OMIM:610902 VTA1 skos:exactMatch hgnc.symbol:VTA1 semapv:UnspecifiedMatching OMIM:610902 VTA1 skos:exactMatch ncbigene:51534 semapv:UnspecifiedMatching -OMIM:610903 VPS36 skos:exactMatch hgnc:VPS36 semapv:UnspecifiedMatching +OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:20312 semapv:UnspecifiedMatching +OMIM:610903 VPS36 skos:exactMatch hgnc.symbol:VPS36 semapv:UnspecifiedMatching OMIM:610903 VPS36 skos:exactMatch ncbigene:51028 semapv:UnspecifiedMatching -OMIM:610904 SNF8 skos:exactMatch hgnc:SNF8 semapv:UnspecifiedMatching +OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:17028 semapv:UnspecifiedMatching +OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:SNF8 semapv:UnspecifiedMatching OMIM:610904 SNF8 skos:exactMatch ncbigene:11267 semapv:UnspecifiedMatching -OMIM:610907 VPS25 skos:exactMatch hgnc:VPS25 semapv:UnspecifiedMatching +OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:28122 semapv:UnspecifiedMatching +OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:VPS25 semapv:UnspecifiedMatching OMIM:610907 VPS25 skos:exactMatch ncbigene:84313 semapv:UnspecifiedMatching -OMIM:610909 MCMBP skos:exactMatch hgnc:MCMBP semapv:UnspecifiedMatching +OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:25782 semapv:UnspecifiedMatching +OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:MCMBP semapv:UnspecifiedMatching OMIM:610909 MCMBP skos:exactMatch ncbigene:79892 semapv:UnspecifiedMatching -OMIM:610911 ARHGAP31 skos:exactMatch hgnc:ARHGAP31 semapv:UnspecifiedMatching +OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:29216 semapv:UnspecifiedMatching +OMIM:610911 ARHGAP31 skos:exactMatch hgnc.symbol:ARHGAP31 semapv:UnspecifiedMatching OMIM:610911 ARHGAP31 skos:exactMatch ncbigene:57514 semapv:UnspecifiedMatching -OMIM:610912 AMTN skos:exactMatch hgnc:AMTN semapv:UnspecifiedMatching +OMIM:610912 AMTN skos:exactMatch hgnc.symbol:33188 semapv:UnspecifiedMatching +OMIM:610912 AMTN skos:exactMatch hgnc.symbol:AMTN semapv:UnspecifiedMatching OMIM:610912 AMTN skos:exactMatch ncbigene:401138 semapv:UnspecifiedMatching -OMIM:610914 ENOX1 skos:exactMatch hgnc:ENOX1 semapv:UnspecifiedMatching +OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:25474 semapv:UnspecifiedMatching +OMIM:610914 ENOX1 skos:exactMatch hgnc.symbol:ENOX1 semapv:UnspecifiedMatching OMIM:610914 ENOX1 skos:exactMatch ncbigene:55068 semapv:UnspecifiedMatching -OMIM:610916 NSUN2 skos:exactMatch hgnc:NSUN2 semapv:UnspecifiedMatching +OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:25994 semapv:UnspecifiedMatching +OMIM:610916 NSUN2 skos:exactMatch hgnc.symbol:NSUN2 semapv:UnspecifiedMatching OMIM:610916 NSUN2 skos:exactMatch ncbigene:54888 semapv:UnspecifiedMatching -OMIM:610917 RAB34 skos:exactMatch hgnc:RAB34 semapv:UnspecifiedMatching +OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:16519 semapv:UnspecifiedMatching +OMIM:610917 RAB34 skos:exactMatch hgnc.symbol:RAB34 semapv:UnspecifiedMatching OMIM:610917 RAB34 skos:exactMatch ncbigene:83871 semapv:UnspecifiedMatching -OMIM:610918 SELENOM skos:exactMatch hgnc:SELENOM semapv:UnspecifiedMatching +OMIM:610918 SELENOM skos:exactMatch hgnc.symbol:30397 semapv:UnspecifiedMatching +OMIM:610918 SELENOM skos:exactMatch hgnc.symbol:SELENOM semapv:UnspecifiedMatching OMIM:610918 SELENOM skos:exactMatch ncbigene:140606 semapv:UnspecifiedMatching -OMIM:610919 GTPBP5 skos:exactMatch hgnc:MTG2 semapv:UnspecifiedMatching +OMIM:610919 GTPBP5 skos:exactMatch hgnc.symbol:16239 semapv:UnspecifiedMatching +OMIM:610919 GTPBP5 skos:exactMatch hgnc.symbol:MTG2 semapv:UnspecifiedMatching OMIM:610919 GTPBP5 skos:exactMatch ncbigene:26164 semapv:UnspecifiedMatching -OMIM:610920 GTPBP10 skos:exactMatch hgnc:GTPBP10 semapv:UnspecifiedMatching +OMIM:610920 GTPBP10 skos:exactMatch hgnc.symbol:25106 semapv:UnspecifiedMatching +OMIM:610920 GTPBP10 skos:exactMatch hgnc.symbol:GTPBP10 semapv:UnspecifiedMatching OMIM:610920 GTPBP10 skos:exactMatch ncbigene:85865 semapv:UnspecifiedMatching -OMIM:610922 NPAP1 skos:exactMatch hgnc:NPAP1 semapv:UnspecifiedMatching +OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:1190 semapv:UnspecifiedMatching +OMIM:610922 NPAP1 skos:exactMatch hgnc.symbol:NPAP1 semapv:UnspecifiedMatching OMIM:610922 NPAP1 skos:exactMatch ncbigene:23742 semapv:UnspecifiedMatching -OMIM:610923 SLC35B4 skos:exactMatch hgnc:SLC35B4 semapv:UnspecifiedMatching +OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:20584 semapv:UnspecifiedMatching +OMIM:610923 SLC35B4 skos:exactMatch hgnc.symbol:SLC35B4 semapv:UnspecifiedMatching OMIM:610923 SLC35B4 skos:exactMatch ncbigene:84912 semapv:UnspecifiedMatching -OMIM:610924 RBCK1 skos:exactMatch hgnc:RBCK1 semapv:UnspecifiedMatching +OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:15864 semapv:UnspecifiedMatching +OMIM:610924 RBCK1 skos:exactMatch hgnc.symbol:RBCK1 semapv:UnspecifiedMatching OMIM:610924 RBCK1 skos:exactMatch ncbigene:10616 semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch UMLS:C1425470 semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch UMLS:C4225324 semapv:UnspecifiedMatching -OMIM:610925 IL17RC skos:exactMatch hgnc:IL17RC semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:18358 semapv:UnspecifiedMatching +OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:IL17RC semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch ncbigene:84818 semapv:UnspecifiedMatching -OMIM:610928 SOX17 skos:exactMatch hgnc:SOX17 semapv:UnspecifiedMatching +OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:18122 semapv:UnspecifiedMatching +OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:SOX17 semapv:UnspecifiedMatching OMIM:610928 SOX17 skos:exactMatch ncbigene:64321 semapv:UnspecifiedMatching -OMIM:610929 ORAI2 skos:exactMatch hgnc:ORAI2 semapv:UnspecifiedMatching +OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:21667 semapv:UnspecifiedMatching +OMIM:610929 ORAI2 skos:exactMatch hgnc.symbol:ORAI2 semapv:UnspecifiedMatching OMIM:610929 ORAI2 skos:exactMatch ncbigene:80228 semapv:UnspecifiedMatching -OMIM:610930 ORAI3 skos:exactMatch hgnc:ORAI3 semapv:UnspecifiedMatching +OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:28185 semapv:UnspecifiedMatching +OMIM:610930 ORAI3 skos:exactMatch hgnc.symbol:ORAI3 semapv:UnspecifiedMatching OMIM:610930 ORAI3 skos:exactMatch ncbigene:93129 semapv:UnspecifiedMatching -OMIM:610931 ZFAT1 skos:exactMatch hgnc:ZFAT semapv:UnspecifiedMatching +OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:19899 semapv:UnspecifiedMatching +OMIM:610931 ZFAT1 skos:exactMatch hgnc.symbol:ZFAT semapv:UnspecifiedMatching OMIM:610931 ZFAT1 skos:exactMatch ncbigene:57623 semapv:UnspecifiedMatching OMIM:610932 TWF1 skos:exactMatch UMLS:C1823556 semapv:UnspecifiedMatching -OMIM:610932 TWF1 skos:exactMatch hgnc:TWF1 semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:9620 semapv:UnspecifiedMatching +OMIM:610932 TWF1 skos:exactMatch hgnc.symbol:TWF1 semapv:UnspecifiedMatching OMIM:610932 TWF1 skos:exactMatch ncbigene:5756 semapv:UnspecifiedMatching -OMIM:610933 LRSAM1 skos:exactMatch hgnc:LRSAM1 semapv:UnspecifiedMatching +OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:25135 semapv:UnspecifiedMatching +OMIM:610933 LRSAM1 skos:exactMatch hgnc.symbol:LRSAM1 semapv:UnspecifiedMatching OMIM:610933 LRSAM1 skos:exactMatch ncbigene:90678 semapv:UnspecifiedMatching OMIM:610934 NOBOX skos:exactMatch UMLS:C1826445 semapv:UnspecifiedMatching OMIM:610934 NOBOX skos:exactMatch UMLS:C1969060 semapv:UnspecifiedMatching -OMIM:610934 NOBOX skos:exactMatch hgnc:NOBOX semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:22448 semapv:UnspecifiedMatching +OMIM:610934 NOBOX skos:exactMatch hgnc.symbol:NOBOX semapv:UnspecifiedMatching OMIM:610934 NOBOX skos:exactMatch ncbigene:135935 semapv:UnspecifiedMatching -OMIM:610935 ZACN skos:exactMatch hgnc:ZACN semapv:UnspecifiedMatching +OMIM:610935 ZACN skos:exactMatch hgnc.symbol:29504 semapv:UnspecifiedMatching +OMIM:610935 ZACN skos:exactMatch hgnc.symbol:ZACN semapv:UnspecifiedMatching OMIM:610935 ZACN skos:exactMatch ncbigene:353174 semapv:UnspecifiedMatching OMIM:610936 PSAT1 skos:exactMatch UMLS:C1426033 semapv:UnspecifiedMatching OMIM:610936 PSAT1 skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching OMIM:610936 PSAT1 skos:exactMatch UMLS:C4015019 semapv:UnspecifiedMatching -OMIM:610936 PSAT1 skos:exactMatch hgnc:PSAT1 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:19129 semapv:UnspecifiedMatching +OMIM:610936 PSAT1 skos:exactMatch hgnc.symbol:PSAT1 semapv:UnspecifiedMatching OMIM:610936 PSAT1 skos:exactMatch ncbigene:29968 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969052 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C1969053 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C2242767 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C4017235 semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching -OMIM:610937 RPGRIP1L skos:exactMatch hgnc:RPGRIP1L semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:29168 semapv:UnspecifiedMatching +OMIM:610937 RPGRIP1L skos:exactMatch hgnc.symbol:RPGRIP1L semapv:UnspecifiedMatching OMIM:610937 RPGRIP1L skos:exactMatch ncbigene:23322 semapv:UnspecifiedMatching -OMIM:610939 MIR192 skos:exactMatch hgnc:MIR192 semapv:UnspecifiedMatching +OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:31562 semapv:UnspecifiedMatching +OMIM:610939 MIR192 skos:exactMatch hgnc.symbol:MIR192 semapv:UnspecifiedMatching OMIM:610939 MIR192 skos:exactMatch ncbigene:406967 semapv:UnspecifiedMatching -OMIM:610940 MIR194-1 skos:exactMatch hgnc:MIR194-1 semapv:UnspecifiedMatching +OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:31564 semapv:UnspecifiedMatching +OMIM:610940 MIR194-1 skos:exactMatch hgnc.symbol:MIR194-1 semapv:UnspecifiedMatching OMIM:610940 MIR194-1 skos:exactMatch ncbigene:406969 semapv:UnspecifiedMatching -OMIM:610941 MIR194-2 skos:exactMatch hgnc:MIR194-2 semapv:UnspecifiedMatching +OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:31565 semapv:UnspecifiedMatching +OMIM:610941 MIR194-2 skos:exactMatch hgnc.symbol:MIR194-2 semapv:UnspecifiedMatching OMIM:610941 MIR194-2 skos:exactMatch ncbigene:406970 semapv:UnspecifiedMatching OMIM:610942 MIR204 skos:exactMatch UMLS:C1537842 semapv:UnspecifiedMatching OMIM:610942 MIR204 skos:exactMatch UMLS:C4225493 semapv:UnspecifiedMatching -OMIM:610942 MIR204 skos:exactMatch hgnc:MIR204 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:31582 semapv:UnspecifiedMatching +OMIM:610942 MIR204 skos:exactMatch hgnc.symbol:MIR204 semapv:UnspecifiedMatching OMIM:610942 MIR204 skos:exactMatch ncbigene:406987 semapv:UnspecifiedMatching -OMIM:610943 MIR215 skos:exactMatch hgnc:MIR215 semapv:UnspecifiedMatching +OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:31592 semapv:UnspecifiedMatching +OMIM:610943 MIR215 skos:exactMatch hgnc.symbol:MIR215 semapv:UnspecifiedMatching OMIM:610943 MIR215 skos:exactMatch ncbigene:406997 semapv:UnspecifiedMatching -OMIM:610944 MIR216 skos:exactMatch hgnc:MIR216A semapv:UnspecifiedMatching +OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:31593 semapv:UnspecifiedMatching +OMIM:610944 MIR216 skos:exactMatch hgnc.symbol:MIR216A semapv:UnspecifiedMatching OMIM:610944 MIR216 skos:exactMatch ncbigene:406998 semapv:UnspecifiedMatching -OMIM:610945 MIR296 skos:exactMatch hgnc:MIR296 semapv:UnspecifiedMatching +OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:31617 semapv:UnspecifiedMatching +OMIM:610945 MIR296 skos:exactMatch hgnc.symbol:MIR296 semapv:UnspecifiedMatching OMIM:610945 MIR296 skos:exactMatch ncbigene:407022 semapv:UnspecifiedMatching -OMIM:610946 MIR133B skos:exactMatch hgnc:MIR133B semapv:UnspecifiedMatching +OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:31759 semapv:UnspecifiedMatching +OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:MIR133B semapv:UnspecifiedMatching OMIM:610946 MIR133B skos:exactMatch ncbigene:442890 semapv:UnspecifiedMatching -OMIM:610949 SYT14 skos:exactMatch hgnc:SYT14 semapv:UnspecifiedMatching +OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:23143 semapv:UnspecifiedMatching +OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:SYT14 semapv:UnspecifiedMatching OMIM:610949 SYT14 skos:exactMatch ncbigene:255928 semapv:UnspecifiedMatching -OMIM:610950 SYT16 skos:exactMatch hgnc:SYT16 semapv:UnspecifiedMatching +OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:23142 semapv:UnspecifiedMatching +OMIM:610950 SYT16 skos:exactMatch hgnc.symbol:SYT16 semapv:UnspecifiedMatching OMIM:610950 SYT16 skos:exactMatch ncbigene:83851 semapv:UnspecifiedMatching +OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:168491 semapv:UnspecifiedMatching +OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch Orphanet:228366 semapv:UnspecifiedMatching OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching -OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch orphanet.ordo:168491 semapv:UnspecifiedMatching -OMIM:610951 ceroid lipofuscinosis, neuronal, 7 skos:exactMatch orphanet.ordo:228366 semapv:UnspecifiedMatching -OMIM:610952 CRNKL1 skos:exactMatch hgnc:CRNKL1 semapv:UnspecifiedMatching +OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:15762 semapv:UnspecifiedMatching +OMIM:610952 CRNKL1 skos:exactMatch hgnc.symbol:CRNKL1 semapv:UnspecifiedMatching OMIM:610952 CRNKL1 skos:exactMatch ncbigene:51340 semapv:UnspecifiedMatching -OMIM:610953 PIF1 skos:exactMatch hgnc:PIF1 semapv:UnspecifiedMatching +OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:26220 semapv:UnspecifiedMatching +OMIM:610953 PIF1 skos:exactMatch hgnc.symbol:PIF1 semapv:UnspecifiedMatching OMIM:610953 PIF1 skos:exactMatch ncbigene:80119 semapv:UnspecifiedMatching +OMIM:610954 pitt-hopkins syndrome skos:exactMatch Orphanet:2896 semapv:UnspecifiedMatching OMIM:610954 pitt-hopkins syndrome skos:exactMatch UMLS:C1970431 semapv:UnspecifiedMatching -OMIM:610954 pitt-hopkins syndrome skos:exactMatch orphanet.ordo:2896 semapv:UnspecifiedMatching -OMIM:610955 TRAPPC3 skos:exactMatch hgnc:TRAPPC3 semapv:UnspecifiedMatching +OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:19942 semapv:UnspecifiedMatching +OMIM:610955 TRAPPC3 skos:exactMatch hgnc.symbol:TRAPPC3 semapv:UnspecifiedMatching OMIM:610955 TRAPPC3 skos:exactMatch ncbigene:27095 semapv:UnspecifiedMatching -OMIM:610956 DARS2 skos:exactMatch hgnc:DARS2 semapv:UnspecifiedMatching +OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:25538 semapv:UnspecifiedMatching +OMIM:610956 DARS2 skos:exactMatch hgnc.symbol:DARS2 semapv:UnspecifiedMatching OMIM:610956 DARS2 skos:exactMatch ncbigene:55157 semapv:UnspecifiedMatching OMIM:610957 YARS2 skos:exactMatch UMLS:C1823881 semapv:UnspecifiedMatching OMIM:610957 YARS2 skos:exactMatch UMLS:C3150802 semapv:UnspecifiedMatching -OMIM:610957 YARS2 skos:exactMatch hgnc:YARS2 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:24249 semapv:UnspecifiedMatching +OMIM:610957 YARS2 skos:exactMatch hgnc.symbol:YARS2 semapv:UnspecifiedMatching OMIM:610957 YARS2 skos:exactMatch ncbigene:51067 semapv:UnspecifiedMatching -OMIM:610958 AGPAT9 skos:exactMatch hgnc:GPAT3 semapv:UnspecifiedMatching +OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:28157 semapv:UnspecifiedMatching +OMIM:610958 AGPAT9 skos:exactMatch hgnc.symbol:GPAT3 semapv:UnspecifiedMatching OMIM:610958 AGPAT9 skos:exactMatch ncbigene:84803 semapv:UnspecifiedMatching -OMIM:610959 MIR376A1 skos:exactMatch hgnc:MIR376A1 semapv:UnspecifiedMatching +OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:31869 semapv:UnspecifiedMatching +OMIM:610959 MIR376A1 skos:exactMatch hgnc.symbol:MIR376A1 semapv:UnspecifiedMatching OMIM:610959 MIR376A1 skos:exactMatch ncbigene:494325 semapv:UnspecifiedMatching -OMIM:610960 MIR376A2 skos:exactMatch hgnc:MIR376A2 semapv:UnspecifiedMatching +OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:32532 semapv:UnspecifiedMatching +OMIM:610960 MIR376A2 skos:exactMatch hgnc.symbol:MIR376A2 semapv:UnspecifiedMatching OMIM:610960 MIR376A2 skos:exactMatch ncbigene:664615 semapv:UnspecifiedMatching -OMIM:610961 MIR376B skos:exactMatch hgnc:MIR376B semapv:UnspecifiedMatching +OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:32066 semapv:UnspecifiedMatching +OMIM:610961 MIR376B skos:exactMatch hgnc.symbol:MIR376B semapv:UnspecifiedMatching OMIM:610961 MIR376B skos:exactMatch ncbigene:574435 semapv:UnspecifiedMatching OMIM:610962 SMG5 skos:exactMatch UMLS:C1822788 semapv:UnspecifiedMatching -OMIM:610962 SMG5 skos:exactMatch hgnc:SMG5 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:24644 semapv:UnspecifiedMatching +OMIM:610962 SMG5 skos:exactMatch hgnc.symbol:SMG5 semapv:UnspecifiedMatching OMIM:610962 SMG5 skos:exactMatch ncbigene:23381 semapv:UnspecifiedMatching OMIM:610963 SMG6 skos:exactMatch UMLS:C1822789 semapv:UnspecifiedMatching -OMIM:610963 SMG6 skos:exactMatch hgnc:SMG6 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:17809 semapv:UnspecifiedMatching +OMIM:610963 SMG6 skos:exactMatch hgnc.symbol:SMG6 semapv:UnspecifiedMatching OMIM:610963 SMG6 skos:exactMatch ncbigene:23293 semapv:UnspecifiedMatching OMIM:610964 SMG7 skos:exactMatch UMLS:C1822790 semapv:UnspecifiedMatching -OMIM:610964 SMG7 skos:exactMatch hgnc:SMG7 semapv:UnspecifiedMatching +OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:16792 semapv:UnspecifiedMatching +OMIM:610964 SMG7 skos:exactMatch hgnc.symbol:SMG7 semapv:UnspecifiedMatching OMIM:610964 SMG7 skos:exactMatch ncbigene:9887 semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch UMLS:C1970415 semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch UMLS:C2752001 semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch UMLS:C4225492 semapv:UnspecifiedMatching -OMIM:610966 FTO skos:exactMatch hgnc:FTO semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch hgnc.symbol:24678 semapv:UnspecifiedMatching +OMIM:610966 FTO skos:exactMatch hgnc.symbol:FTO semapv:UnspecifiedMatching OMIM:610966 FTO skos:exactMatch ncbigene:79068 semapv:UnspecifiedMatching -OMIM:610969 TRAPPC1 skos:exactMatch hgnc:TRAPPC1 semapv:UnspecifiedMatching +OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:19894 semapv:UnspecifiedMatching +OMIM:610969 TRAPPC1 skos:exactMatch hgnc.symbol:TRAPPC1 semapv:UnspecifiedMatching OMIM:610969 TRAPPC1 skos:exactMatch ncbigene:58485 semapv:UnspecifiedMatching -OMIM:610970 TRAPPC2L skos:exactMatch hgnc:TRAPPC2L semapv:UnspecifiedMatching +OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:30887 semapv:UnspecifiedMatching +OMIM:610970 TRAPPC2L skos:exactMatch hgnc.symbol:TRAPPC2L semapv:UnspecifiedMatching OMIM:610970 TRAPPC2L skos:exactMatch ncbigene:51693 semapv:UnspecifiedMatching OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C1426551 semapv:UnspecifiedMatching OMIM:610971 TRAPPC4 skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching -OMIM:610971 TRAPPC4 skos:exactMatch hgnc:TRAPPC4 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:19943 semapv:UnspecifiedMatching +OMIM:610971 TRAPPC4 skos:exactMatch hgnc.symbol:TRAPPC4 semapv:UnspecifiedMatching OMIM:610971 TRAPPC4 skos:exactMatch ncbigene:51399 semapv:UnspecifiedMatching -OMIM:610972 AJAP1 skos:exactMatch hgnc:AJAP1 semapv:UnspecifiedMatching +OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:30801 semapv:UnspecifiedMatching +OMIM:610972 AJAP1 skos:exactMatch hgnc.symbol:AJAP1 semapv:UnspecifiedMatching OMIM:610972 AJAP1 skos:exactMatch ncbigene:55966 semapv:UnspecifiedMatching -OMIM:610973 MPP7 skos:exactMatch hgnc:MPP7 semapv:UnspecifiedMatching +OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:26542 semapv:UnspecifiedMatching +OMIM:610973 MPP7 skos:exactMatch hgnc.symbol:MPP7 semapv:UnspecifiedMatching OMIM:610973 MPP7 skos:exactMatch ncbigene:143098 semapv:UnspecifiedMatching -OMIM:610974 ZNF521 skos:exactMatch hgnc:ZNF521 semapv:UnspecifiedMatching +OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:24605 semapv:UnspecifiedMatching +OMIM:610974 ZNF521 skos:exactMatch hgnc.symbol:ZNF521 semapv:UnspecifiedMatching OMIM:610974 ZNF521 skos:exactMatch ncbigene:25925 semapv:UnspecifiedMatching -OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc:SEBOX semapv:UnspecifiedMatching +OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:32942 semapv:UnspecifiedMatching +OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch hgnc.symbol:SEBOX semapv:UnspecifiedMatching OMIM:610975 skin-, embryo-, brain-, and oocyte-specific homeobox skos:exactMatch ncbigene:645832 semapv:UnspecifiedMatching -OMIM:610976 APOBEC3H skos:exactMatch hgnc:APOBEC3H semapv:UnspecifiedMatching +OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:24100 semapv:UnspecifiedMatching +OMIM:610976 APOBEC3H skos:exactMatch hgnc.symbol:APOBEC3H semapv:UnspecifiedMatching OMIM:610976 APOBEC3H skos:exactMatch ncbigene:164668 semapv:UnspecifiedMatching -OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc:MFSD10 semapv:UnspecifiedMatching +OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:16894 semapv:UnspecifiedMatching +OMIM:610977 tetracycline transporter-like protein skos:exactMatch hgnc.symbol:MFSD10 semapv:UnspecifiedMatching OMIM:610977 tetracycline transporter-like protein skos:exactMatch ncbigene:10227 semapv:UnspecifiedMatching -OMIM:610979 PPIP5K1 skos:exactMatch hgnc:PPIP5K1 semapv:UnspecifiedMatching +OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:29023 semapv:UnspecifiedMatching +OMIM:610979 PPIP5K1 skos:exactMatch hgnc.symbol:PPIP5K1 semapv:UnspecifiedMatching OMIM:610979 PPIP5K1 skos:exactMatch ncbigene:9677 semapv:UnspecifiedMatching -OMIM:610980 KCNQ1DN skos:exactMatch hgnc:KCNQ1DN semapv:UnspecifiedMatching +OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:13335 semapv:UnspecifiedMatching +OMIM:610980 KCNQ1DN skos:exactMatch hgnc.symbol:KCNQ1DN semapv:UnspecifiedMatching OMIM:610980 KCNQ1DN skos:exactMatch ncbigene:55539 semapv:UnspecifiedMatching -OMIM:610981 WBP2NL skos:exactMatch hgnc:WBP2NL semapv:UnspecifiedMatching +OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:28389 semapv:UnspecifiedMatching +OMIM:610981 WBP2NL skos:exactMatch hgnc.symbol:WBP2NL semapv:UnspecifiedMatching OMIM:610981 WBP2NL skos:exactMatch ncbigene:164684 semapv:UnspecifiedMatching -OMIM:610982 INF2 skos:exactMatch hgnc:INF2 semapv:UnspecifiedMatching +OMIM:610982 INF2 skos:exactMatch hgnc.symbol:23791 semapv:UnspecifiedMatching +OMIM:610982 INF2 skos:exactMatch hgnc.symbol:INF2 semapv:UnspecifiedMatching OMIM:610982 INF2 skos:exactMatch ncbigene:64423 semapv:UnspecifiedMatching -OMIM:610983 MIR376C skos:exactMatch hgnc:MIR376C semapv:UnspecifiedMatching +OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:31782 semapv:UnspecifiedMatching +OMIM:610983 MIR376C skos:exactMatch hgnc.symbol:MIR376C semapv:UnspecifiedMatching OMIM:610983 MIR376C skos:exactMatch ncbigene:442913 semapv:UnspecifiedMatching -OMIM:610985 UEVLD skos:exactMatch hgnc:UEVLD semapv:UnspecifiedMatching +OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:30866 semapv:UnspecifiedMatching +OMIM:610985 UEVLD skos:exactMatch hgnc.symbol:UEVLD semapv:UnspecifiedMatching OMIM:610985 UEVLD skos:exactMatch ncbigene:55293 semapv:UnspecifiedMatching -OMIM:610986 LRRK1 skos:exactMatch hgnc:LRRK1 semapv:UnspecifiedMatching +OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:18608 semapv:UnspecifiedMatching +OMIM:610986 LRRK1 skos:exactMatch hgnc.symbol:LRRK1 semapv:UnspecifiedMatching OMIM:610986 LRRK1 skos:exactMatch ncbigene:79705 semapv:UnspecifiedMatching OMIM:610987 ASAH2B skos:exactMatch UMLS:C1540202 semapv:UnspecifiedMatching -OMIM:610987 ASAH2B skos:exactMatch hgnc:ASAH2B semapv:UnspecifiedMatching +OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:23456 semapv:UnspecifiedMatching +OMIM:610987 ASAH2B skos:exactMatch hgnc.symbol:ASAH2B semapv:UnspecifiedMatching OMIM:610987 ASAH2B skos:exactMatch ncbigene:653308 semapv:UnspecifiedMatching -OMIM:610989 LMTK2 skos:exactMatch hgnc:LMTK2 semapv:UnspecifiedMatching +OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:17880 semapv:UnspecifiedMatching +OMIM:610989 LMTK2 skos:exactMatch hgnc.symbol:LMTK2 semapv:UnspecifiedMatching OMIM:610989 LMTK2 skos:exactMatch ncbigene:22853 semapv:UnspecifiedMatching -OMIM:610990 PPP1R18 skos:exactMatch hgnc:PPP1R18 semapv:UnspecifiedMatching +OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:29413 semapv:UnspecifiedMatching +OMIM:610990 PPP1R18 skos:exactMatch hgnc.symbol:PPP1R18 semapv:UnspecifiedMatching OMIM:610990 PPP1R18 skos:exactMatch ncbigene:170954 semapv:UnspecifiedMatching -OMIM:610991 OBSL1 skos:exactMatch hgnc:OBSL1 semapv:UnspecifiedMatching +OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:29092 semapv:UnspecifiedMatching +OMIM:610991 OBSL1 skos:exactMatch hgnc.symbol:OBSL1 semapv:UnspecifiedMatching OMIM:610991 OBSL1 skos:exactMatch ncbigene:23363 semapv:UnspecifiedMatching +OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch Orphanet:284417 semapv:UnspecifiedMatching OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch UMLS:C1970253 semapv:UnspecifiedMatching -OMIM:610992 phosphoserine aminotransferase deficiency skos:exactMatch orphanet.ordo:284417 semapv:UnspecifiedMatching -OMIM:610993 USP44 skos:exactMatch hgnc:USP44 semapv:UnspecifiedMatching +OMIM:610993 USP44 skos:exactMatch hgnc.symbol:20064 semapv:UnspecifiedMatching +OMIM:610993 USP44 skos:exactMatch hgnc.symbol:USP44 semapv:UnspecifiedMatching OMIM:610993 USP44 skos:exactMatch ncbigene:84101 semapv:UnspecifiedMatching -OMIM:610994 TMEM189 skos:exactMatch hgnc:PEDS1 semapv:UnspecifiedMatching +OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:16735 semapv:UnspecifiedMatching +OMIM:610994 TMEM189 skos:exactMatch hgnc.symbol:PEDS1 semapv:UnspecifiedMatching OMIM:610994 TMEM189 skos:exactMatch ncbigene:387521 semapv:UnspecifiedMatching -OMIM:610995 PCYOX1 skos:exactMatch hgnc:PCYOX1 semapv:UnspecifiedMatching +OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:20588 semapv:UnspecifiedMatching +OMIM:610995 PCYOX1 skos:exactMatch hgnc.symbol:PCYOX1 semapv:UnspecifiedMatching OMIM:610995 PCYOX1 skos:exactMatch ncbigene:51449 semapv:UnspecifiedMatching OMIM:610996 DTD1 skos:exactMatch UMLS:C1970251 semapv:UnspecifiedMatching -OMIM:610996 DTD1 skos:exactMatch hgnc:DTD1 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:16219 semapv:UnspecifiedMatching +OMIM:610996 DTD1 skos:exactMatch hgnc.symbol:DTD1 semapv:UnspecifiedMatching OMIM:610996 DTD1 skos:exactMatch ncbigene:92675 semapv:UnspecifiedMatching -OMIM:610998 METRN skos:exactMatch hgnc:METRN semapv:UnspecifiedMatching +OMIM:610998 METRN skos:exactMatch hgnc.symbol:14151 semapv:UnspecifiedMatching +OMIM:610998 METRN skos:exactMatch hgnc.symbol:METRN semapv:UnspecifiedMatching OMIM:610998 METRN skos:exactMatch ncbigene:79006 semapv:UnspecifiedMatching OMIM:610999 EPC1 skos:exactMatch UMLS:C1426501 semapv:UnspecifiedMatching -OMIM:610999 EPC1 skos:exactMatch hgnc:EPC1 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:19876 semapv:UnspecifiedMatching +OMIM:610999 EPC1 skos:exactMatch hgnc.symbol:EPC1 semapv:UnspecifiedMatching OMIM:610999 EPC1 skos:exactMatch ncbigene:80314 semapv:UnspecifiedMatching OMIM:611000 EPC2 skos:exactMatch UMLS:C1539360 semapv:UnspecifiedMatching -OMIM:611000 EPC2 skos:exactMatch hgnc:EPC2 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:24543 semapv:UnspecifiedMatching +OMIM:611000 EPC2 skos:exactMatch hgnc.symbol:EPC2 semapv:UnspecifiedMatching OMIM:611000 EPC2 skos:exactMatch ncbigene:26122 semapv:UnspecifiedMatching -OMIM:611001 MEAF6 skos:exactMatch hgnc:MEAF6 semapv:UnspecifiedMatching +OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:25674 semapv:UnspecifiedMatching +OMIM:611001 MEAF6 skos:exactMatch hgnc.symbol:MEAF6 semapv:UnspecifiedMatching OMIM:611001 MEAF6 skos:exactMatch ncbigene:64769 semapv:UnspecifiedMatching -OMIM:611002 TMEM204 skos:exactMatch hgnc:TMEM204 semapv:UnspecifiedMatching +OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:14158 semapv:UnspecifiedMatching +OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:TMEM204 semapv:UnspecifiedMatching OMIM:611002 TMEM204 skos:exactMatch ncbigene:79652 semapv:UnspecifiedMatching -OMIM:611005 MEX3C skos:exactMatch hgnc:MEX3C semapv:UnspecifiedMatching +OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:28040 semapv:UnspecifiedMatching +OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:MEX3C semapv:UnspecifiedMatching OMIM:611005 MEX3C skos:exactMatch ncbigene:51320 semapv:UnspecifiedMatching OMIM:611006 ISCA1 skos:exactMatch UMLS:C1428729 semapv:UnspecifiedMatching OMIM:611006 ISCA1 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching -OMIM:611006 ISCA1 skos:exactMatch hgnc:ISCA1 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:28660 semapv:UnspecifiedMatching +OMIM:611006 ISCA1 skos:exactMatch hgnc.symbol:ISCA1 semapv:UnspecifiedMatching OMIM:611006 ISCA1 skos:exactMatch ncbigene:81689 semapv:UnspecifiedMatching OMIM:611007 MEX3A skos:exactMatch UMLS:C1970246 semapv:UnspecifiedMatching -OMIM:611007 MEX3A skos:exactMatch hgnc:MEX3A semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:33482 semapv:UnspecifiedMatching +OMIM:611007 MEX3A skos:exactMatch hgnc.symbol:MEX3A semapv:UnspecifiedMatching OMIM:611007 MEX3A skos:exactMatch ncbigene:92312 semapv:UnspecifiedMatching -OMIM:611008 MEX3B skos:exactMatch hgnc:MEX3B semapv:UnspecifiedMatching +OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:25297 semapv:UnspecifiedMatching +OMIM:611008 MEX3B skos:exactMatch hgnc.symbol:MEX3B semapv:UnspecifiedMatching OMIM:611008 MEX3B skos:exactMatch ncbigene:84206 semapv:UnspecifiedMatching -OMIM:611009 MEX3D skos:exactMatch hgnc:MEX3D semapv:UnspecifiedMatching +OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:16734 semapv:UnspecifiedMatching +OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:MEX3D semapv:UnspecifiedMatching OMIM:611009 MEX3D skos:exactMatch ncbigene:399664 semapv:UnspecifiedMatching -OMIM:611011 TMEM259 skos:exactMatch hgnc:TMEM259 semapv:UnspecifiedMatching +OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:17039 semapv:UnspecifiedMatching +OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:TMEM259 semapv:UnspecifiedMatching OMIM:611011 TMEM259 skos:exactMatch ncbigene:91304 semapv:UnspecifiedMatching -OMIM:611012 RGSL1 skos:exactMatch hgnc:RGSL1 semapv:UnspecifiedMatching +OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:18636 semapv:UnspecifiedMatching +OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:RGSL1 semapv:UnspecifiedMatching OMIM:611012 RGSL1 skos:exactMatch ncbigene:353299 semapv:UnspecifiedMatching -OMIM:611017 TYSND1 skos:exactMatch hgnc:TYSND1 semapv:UnspecifiedMatching +OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:28531 semapv:UnspecifiedMatching +OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:TYSND1 semapv:UnspecifiedMatching OMIM:611017 TYSND1 skos:exactMatch ncbigene:219743 semapv:UnspecifiedMatching -OMIM:611018 PAIP2B skos:exactMatch hgnc:PAIP2B semapv:UnspecifiedMatching +OMIM:611018 PAIP2B skos:exactMatch hgnc.symbol:29200 semapv:UnspecifiedMatching +OMIM:611018 PAIP2B skos:exactMatch hgnc.symbol:PAIP2B semapv:UnspecifiedMatching OMIM:611018 PAIP2B skos:exactMatch ncbigene:400961 semapv:UnspecifiedMatching -OMIM:611019 ATP6V0E2 skos:exactMatch hgnc:ATP6V0E2 semapv:UnspecifiedMatching +OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:21723 semapv:UnspecifiedMatching +OMIM:611019 ATP6V0E2 skos:exactMatch hgnc.symbol:ATP6V0E2 semapv:UnspecifiedMatching OMIM:611019 ATP6V0E2 skos:exactMatch ncbigene:155066 semapv:UnspecifiedMatching -OMIM:611020 MIR21 skos:exactMatch hgnc:MIR21 semapv:UnspecifiedMatching +OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:31586 semapv:UnspecifiedMatching +OMIM:611020 MIR21 skos:exactMatch hgnc.symbol:MIR21 semapv:UnspecifiedMatching OMIM:611020 MIR21 skos:exactMatch ncbigene:406991 semapv:UnspecifiedMatching OMIM:611021 NMD3 skos:exactMatch UMLS:C1538068 semapv:UnspecifiedMatching -OMIM:611021 NMD3 skos:exactMatch hgnc:NMD3 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:24250 semapv:UnspecifiedMatching +OMIM:611021 NMD3 skos:exactMatch hgnc.symbol:NMD3 semapv:UnspecifiedMatching OMIM:611021 NMD3 skos:exactMatch ncbigene:51068 semapv:UnspecifiedMatching -OMIM:611023 TRMT5 skos:exactMatch hgnc:TRMT5 semapv:UnspecifiedMatching +OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:23141 semapv:UnspecifiedMatching +OMIM:611023 TRMT5 skos:exactMatch hgnc.symbol:TRMT5 semapv:UnspecifiedMatching OMIM:611023 TRMT5 skos:exactMatch ncbigene:57570 semapv:UnspecifiedMatching -OMIM:611024 ZNF667 skos:exactMatch hgnc:ZNF667 semapv:UnspecifiedMatching +OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:28854 semapv:UnspecifiedMatching +OMIM:611024 ZNF667 skos:exactMatch hgnc.symbol:ZNF667 semapv:UnspecifiedMatching OMIM:611024 ZNF667 skos:exactMatch ncbigene:63934 semapv:UnspecifiedMatching OMIM:611025 ENKUR skos:exactMatch UMLS:C1428701 semapv:UnspecifiedMatching OMIM:611025 ENKUR skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611025 ENKUR skos:exactMatch hgnc:ENKUR semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:28388 semapv:UnspecifiedMatching +OMIM:611025 ENKUR skos:exactMatch hgnc.symbol:ENKUR semapv:UnspecifiedMatching OMIM:611025 ENKUR skos:exactMatch ncbigene:219670 semapv:UnspecifiedMatching OMIM:611026 FA2H skos:exactMatch UMLS:C1427405 semapv:UnspecifiedMatching OMIM:611026 FA2H skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching -OMIM:611026 FA2H skos:exactMatch hgnc:FA2H semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch hgnc.symbol:21197 semapv:UnspecifiedMatching +OMIM:611026 FA2H skos:exactMatch hgnc.symbol:FA2H semapv:UnspecifiedMatching OMIM:611026 FA2H skos:exactMatch ncbigene:79152 semapv:UnspecifiedMatching -OMIM:611027 SHCBP1 skos:exactMatch hgnc:SHCBP1 semapv:UnspecifiedMatching +OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:29547 semapv:UnspecifiedMatching +OMIM:611027 SHCBP1 skos:exactMatch hgnc.symbol:SHCBP1 semapv:UnspecifiedMatching OMIM:611027 SHCBP1 skos:exactMatch ncbigene:79801 semapv:UnspecifiedMatching -OMIM:611028 TMEM30A skos:exactMatch hgnc:TMEM30A semapv:UnspecifiedMatching +OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:16667 semapv:UnspecifiedMatching +OMIM:611028 TMEM30A skos:exactMatch hgnc.symbol:TMEM30A semapv:UnspecifiedMatching OMIM:611028 TMEM30A skos:exactMatch ncbigene:55754 semapv:UnspecifiedMatching -OMIM:611029 TMEM30B skos:exactMatch hgnc:TMEM30B semapv:UnspecifiedMatching +OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:27254 semapv:UnspecifiedMatching +OMIM:611029 TMEM30B skos:exactMatch hgnc.symbol:TMEM30B semapv:UnspecifiedMatching OMIM:611029 TMEM30B skos:exactMatch ncbigene:161291 semapv:UnspecifiedMatching -OMIM:611030 TMEM30C skos:exactMatch hgnc:TMEM30CP semapv:UnspecifiedMatching +OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:30443 semapv:UnspecifiedMatching +OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:TMEM30CP semapv:UnspecifiedMatching OMIM:611030 TMEM30C skos:exactMatch ncbigene:644444 semapv:UnspecifiedMatching -OMIM:611032 SPATA17 skos:exactMatch hgnc:SPATA17 semapv:UnspecifiedMatching +OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:25184 semapv:UnspecifiedMatching +OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:SPATA17 semapv:UnspecifiedMatching OMIM:611032 SPATA17 skos:exactMatch ncbigene:128153 semapv:UnspecifiedMatching -OMIM:611033 C11ORF21 skos:exactMatch hgnc:C11orf21 semapv:UnspecifiedMatching +OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:13231 semapv:UnspecifiedMatching +OMIM:611033 C11ORF21 skos:exactMatch hgnc.symbol:C11orf21 semapv:UnspecifiedMatching OMIM:611033 C11ORF21 skos:exactMatch ncbigene:29125 semapv:UnspecifiedMatching -OMIM:611034 SLC17A3 skos:exactMatch hgnc:SLC17A3 semapv:UnspecifiedMatching +OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:10931 semapv:UnspecifiedMatching +OMIM:611034 SLC17A3 skos:exactMatch hgnc.symbol:SLC17A3 semapv:UnspecifiedMatching OMIM:611034 SLC17A3 skos:exactMatch ncbigene:10786 semapv:UnspecifiedMatching -OMIM:611035 APLF skos:exactMatch hgnc:APLF semapv:UnspecifiedMatching +OMIM:611035 APLF skos:exactMatch hgnc.symbol:28724 semapv:UnspecifiedMatching +OMIM:611035 APLF skos:exactMatch hgnc.symbol:APLF semapv:UnspecifiedMatching OMIM:611035 APLF skos:exactMatch ncbigene:200558 semapv:UnspecifiedMatching -OMIM:611036 SLC2A13 skos:exactMatch hgnc:SLC2A13 semapv:UnspecifiedMatching +OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:15956 semapv:UnspecifiedMatching +OMIM:611036 SLC2A13 skos:exactMatch hgnc.symbol:SLC2A13 semapv:UnspecifiedMatching OMIM:611036 SLC2A13 skos:exactMatch ncbigene:114134 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch UMLS:C1427063 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch UMLS:C4225206 semapv:UnspecifiedMatching -OMIM:611037 SLC25A26 skos:exactMatch hgnc:SLC25A26 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:20661 semapv:UnspecifiedMatching +OMIM:611037 SLC25A26 skos:exactMatch hgnc.symbol:SLC25A26 semapv:UnspecifiedMatching OMIM:611037 SLC25A26 skos:exactMatch ncbigene:115286 semapv:UnspecifiedMatching -OMIM:611039 SLC2A14 skos:exactMatch hgnc:SLC2A14 semapv:UnspecifiedMatching +OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:18301 semapv:UnspecifiedMatching +OMIM:611039 SLC2A14 skos:exactMatch hgnc.symbol:SLC2A14 semapv:UnspecifiedMatching OMIM:611039 SLC2A14 skos:exactMatch ncbigene:144195 semapv:UnspecifiedMatching -OMIM:611041 TRIM47 skos:exactMatch hgnc:TRIM47 semapv:UnspecifiedMatching +OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:19020 semapv:UnspecifiedMatching +OMIM:611041 TRIM47 skos:exactMatch hgnc.symbol:TRIM47 semapv:UnspecifiedMatching OMIM:611041 TRIM47 skos:exactMatch ncbigene:91107 semapv:UnspecifiedMatching -OMIM:611042 LELP1 skos:exactMatch hgnc:LELP1 semapv:UnspecifiedMatching +OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:32046 semapv:UnspecifiedMatching +OMIM:611042 LELP1 skos:exactMatch hgnc.symbol:LELP1 semapv:UnspecifiedMatching OMIM:611042 LELP1 skos:exactMatch ncbigene:149018 semapv:UnspecifiedMatching -OMIM:611043 LIN28A skos:exactMatch hgnc:LIN28A semapv:UnspecifiedMatching +OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:15986 semapv:UnspecifiedMatching +OMIM:611043 LIN28A skos:exactMatch hgnc.symbol:LIN28A semapv:UnspecifiedMatching OMIM:611043 LIN28A skos:exactMatch ncbigene:79727 semapv:UnspecifiedMatching OMIM:611044 LIN28B skos:exactMatch UMLS:C1825819 semapv:UnspecifiedMatching -OMIM:611044 LIN28B skos:exactMatch hgnc:LIN28B semapv:UnspecifiedMatching +OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:32207 semapv:UnspecifiedMatching +OMIM:611044 LIN28B skos:exactMatch hgnc.symbol:LIN28B semapv:UnspecifiedMatching OMIM:611044 LIN28B skos:exactMatch ncbigene:389421 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch UMLS:C1428419 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch UMLS:C2751630 semapv:UnspecifiedMatching -OMIM:611045 G6PC3 skos:exactMatch hgnc:G6PC3 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:24861 semapv:UnspecifiedMatching +OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:G6PC3 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch ncbigene:92579 semapv:UnspecifiedMatching -OMIM:611047 RAET1L skos:exactMatch hgnc:RAET1L semapv:UnspecifiedMatching +OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:16798 semapv:UnspecifiedMatching +OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:RAET1L semapv:UnspecifiedMatching OMIM:611047 RAET1L skos:exactMatch ncbigene:154064 semapv:UnspecifiedMatching -OMIM:611048 PPP1R15A skos:exactMatch hgnc:PPP1R15A semapv:UnspecifiedMatching +OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:14375 semapv:UnspecifiedMatching +OMIM:611048 PPP1R15A skos:exactMatch hgnc.symbol:PPP1R15A semapv:UnspecifiedMatching OMIM:611048 PPP1R15A skos:exactMatch ncbigene:23645 semapv:UnspecifiedMatching -OMIM:611049 SLC17A2 skos:exactMatch hgnc:SLC17A2 semapv:UnspecifiedMatching +OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:10930 semapv:UnspecifiedMatching +OMIM:611049 SLC17A2 skos:exactMatch hgnc.symbol:SLC17A2 semapv:UnspecifiedMatching OMIM:611049 SLC17A2 skos:exactMatch ncbigene:10246 semapv:UnspecifiedMatching -OMIM:611050 LUZP6 skos:exactMatch hgnc:LUZP6 semapv:UnspecifiedMatching +OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:33955 semapv:UnspecifiedMatching +OMIM:611050 LUZP6 skos:exactMatch hgnc.symbol:LUZP6 semapv:UnspecifiedMatching OMIM:611050 LUZP6 skos:exactMatch ncbigene:767558 semapv:UnspecifiedMatching -OMIM:611051 CCDC50 skos:exactMatch hgnc:CCDC50 semapv:UnspecifiedMatching +OMIM:611051 CCDC50 skos:exactMatch hgnc.symbol:18111 semapv:UnspecifiedMatching +OMIM:611051 CCDC50 skos:exactMatch hgnc.symbol:CCDC50 semapv:UnspecifiedMatching OMIM:611051 CCDC50 skos:exactMatch ncbigene:152137 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C1822684 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C5394583 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C5394584 semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching -OMIM:611052 SETD1A skos:exactMatch hgnc:SETD1A semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:29010 semapv:UnspecifiedMatching +OMIM:611052 SETD1A skos:exactMatch hgnc.symbol:SETD1A semapv:UnspecifiedMatching OMIM:611052 SETD1A skos:exactMatch ncbigene:9739 semapv:UnspecifiedMatching -OMIM:611053 RUSC2 skos:exactMatch hgnc:RUSC2 semapv:UnspecifiedMatching +OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:23625 semapv:UnspecifiedMatching +OMIM:611053 RUSC2 skos:exactMatch hgnc.symbol:RUSC2 semapv:UnspecifiedMatching OMIM:611053 RUSC2 skos:exactMatch ncbigene:9853 semapv:UnspecifiedMatching -OMIM:611054 PPFIA1 skos:exactMatch hgnc:PPFIA1 semapv:UnspecifiedMatching +OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:9245 semapv:UnspecifiedMatching +OMIM:611054 PPFIA1 skos:exactMatch hgnc.symbol:PPFIA1 semapv:UnspecifiedMatching OMIM:611054 PPFIA1 skos:exactMatch ncbigene:8500 semapv:UnspecifiedMatching OMIM:611055 SETD1B skos:exactMatch UMLS:C1822685 semapv:UnspecifiedMatching OMIM:611055 SETD1B skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching -OMIM:611055 SETD1B skos:exactMatch hgnc:SETD1B semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:29187 semapv:UnspecifiedMatching +OMIM:611055 SETD1B skos:exactMatch hgnc.symbol:SETD1B semapv:UnspecifiedMatching OMIM:611055 SETD1B skos:exactMatch ncbigene:23067 semapv:UnspecifiedMatching -OMIM:611056 SCLY skos:exactMatch hgnc:SCLY semapv:UnspecifiedMatching +OMIM:611056 SCLY skos:exactMatch hgnc.symbol:18161 semapv:UnspecifiedMatching +OMIM:611056 SCLY skos:exactMatch hgnc.symbol:SCLY semapv:UnspecifiedMatching OMIM:611056 SCLY skos:exactMatch ncbigene:51540 semapv:UnspecifiedMatching -OMIM:611058 PEX5L skos:exactMatch hgnc:PEX5L semapv:UnspecifiedMatching +OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:30024 semapv:UnspecifiedMatching +OMIM:611058 PEX5L skos:exactMatch hgnc.symbol:PEX5L semapv:UnspecifiedMatching OMIM:611058 PEX5L skos:exactMatch ncbigene:51555 semapv:UnspecifiedMatching -OMIM:611059 WDR82 skos:exactMatch hgnc:WDR82 semapv:UnspecifiedMatching +OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:28826 semapv:UnspecifiedMatching +OMIM:611059 WDR82 skos:exactMatch hgnc.symbol:WDR82 semapv:UnspecifiedMatching OMIM:611059 WDR82 skos:exactMatch ncbigene:80335 semapv:UnspecifiedMatching -OMIM:611060 SETBP1 skos:exactMatch hgnc:SETBP1 semapv:UnspecifiedMatching +OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:15573 semapv:UnspecifiedMatching +OMIM:611060 SETBP1 skos:exactMatch hgnc.symbol:SETBP1 semapv:UnspecifiedMatching OMIM:611060 SETBP1 skos:exactMatch ncbigene:26040 semapv:UnspecifiedMatching -OMIM:611061 FAM20C skos:exactMatch hgnc:FAM20C semapv:UnspecifiedMatching +OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:22140 semapv:UnspecifiedMatching +OMIM:611061 FAM20C skos:exactMatch hgnc.symbol:FAM20C semapv:UnspecifiedMatching OMIM:611061 FAM20C skos:exactMatch ncbigene:56975 semapv:UnspecifiedMatching -OMIM:611062 FAM20A skos:exactMatch hgnc:FAM20A semapv:UnspecifiedMatching +OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:23015 semapv:UnspecifiedMatching +OMIM:611062 FAM20A skos:exactMatch hgnc.symbol:FAM20A semapv:UnspecifiedMatching OMIM:611062 FAM20A skos:exactMatch ncbigene:54757 semapv:UnspecifiedMatching OMIM:611063 FAM20B skos:exactMatch UMLS:C1427852 semapv:UnspecifiedMatching -OMIM:611063 FAM20B skos:exactMatch hgnc:FAM20B semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:23017 semapv:UnspecifiedMatching +OMIM:611063 FAM20B skos:exactMatch hgnc.symbol:FAM20B semapv:UnspecifiedMatching OMIM:611063 FAM20B skos:exactMatch ncbigene:9917 semapv:UnspecifiedMatching OMIM:611065 PPM1K skos:exactMatch UMLS:C1538710 semapv:UnspecifiedMatching OMIM:611065 PPM1K skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching -OMIM:611065 PPM1K skos:exactMatch hgnc:PPM1K semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:25415 semapv:UnspecifiedMatching +OMIM:611065 PPM1K skos:exactMatch hgnc.symbol:PPM1K semapv:UnspecifiedMatching OMIM:611065 PPM1K skos:exactMatch ncbigene:152926 semapv:UnspecifiedMatching -OMIM:611066 PHLPPL skos:exactMatch hgnc:PHLPP2 semapv:UnspecifiedMatching +OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:29149 semapv:UnspecifiedMatching +OMIM:611066 PHLPPL skos:exactMatch hgnc.symbol:PHLPP2 semapv:UnspecifiedMatching OMIM:611066 PHLPPL skos:exactMatch ncbigene:23035 semapv:UnspecifiedMatching -OMIM:611068 SNORD43 skos:exactMatch hgnc:SNORD43 semapv:UnspecifiedMatching +OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:10182 semapv:UnspecifiedMatching +OMIM:611068 SNORD43 skos:exactMatch hgnc.symbol:SNORD43 semapv:UnspecifiedMatching OMIM:611068 SNORD43 skos:exactMatch ncbigene:26807 semapv:UnspecifiedMatching -OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc:SNORD139 semapv:UnspecifiedMatching +OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:50421 semapv:UnspecifiedMatching +OMIM:611069 rna, u86 small nucleolar skos:exactMatch hgnc.symbol:SNORD139 semapv:UnspecifiedMatching OMIM:611069 rna, u86 small nucleolar skos:exactMatch ncbigene:116936 semapv:UnspecifiedMatching -OMIM:611070 SNORD83A skos:exactMatch hgnc:SNORD83A semapv:UnspecifiedMatching +OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:17131 semapv:UnspecifiedMatching +OMIM:611070 SNORD83A skos:exactMatch hgnc.symbol:SNORD83A semapv:UnspecifiedMatching OMIM:611070 SNORD83A skos:exactMatch ncbigene:116937 semapv:UnspecifiedMatching -OMIM:611071 SNORD83B skos:exactMatch hgnc:SNORD83B semapv:UnspecifiedMatching +OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:17132 semapv:UnspecifiedMatching +OMIM:611071 SNORD83B skos:exactMatch hgnc.symbol:SNORD83B semapv:UnspecifiedMatching OMIM:611071 SNORD83B skos:exactMatch ncbigene:116938 semapv:UnspecifiedMatching -OMIM:611072 DNAJC24 skos:exactMatch hgnc:DNAJC24 semapv:UnspecifiedMatching +OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:26979 semapv:UnspecifiedMatching +OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:DNAJC24 semapv:UnspecifiedMatching OMIM:611072 DNAJC24 skos:exactMatch ncbigene:120526 semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch UMLS:C1970208 semapv:UnspecifiedMatching -OMIM:611074 BSX skos:exactMatch hgnc:BSX semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch hgnc.symbol:20450 semapv:UnspecifiedMatching +OMIM:611074 BSX skos:exactMatch hgnc.symbol:BSX semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch ncbigene:390259 semapv:UnspecifiedMatching -OMIM:611075 DPH5 skos:exactMatch hgnc:DPH5 semapv:UnspecifiedMatching +OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:24270 semapv:UnspecifiedMatching +OMIM:611075 DPH5 skos:exactMatch hgnc.symbol:DPH5 semapv:UnspecifiedMatching OMIM:611075 DPH5 skos:exactMatch ncbigene:51611 semapv:UnspecifiedMatching -OMIM:611076 NT5DC3 skos:exactMatch hgnc:NT5DC3 semapv:UnspecifiedMatching +OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:30826 semapv:UnspecifiedMatching +OMIM:611076 NT5DC3 skos:exactMatch hgnc.symbol:NT5DC3 semapv:UnspecifiedMatching OMIM:611076 NT5DC3 skos:exactMatch ncbigene:51559 semapv:UnspecifiedMatching -OMIM:611077 CHCHD4 skos:exactMatch hgnc:CHCHD4 semapv:UnspecifiedMatching +OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:26467 semapv:UnspecifiedMatching +OMIM:611077 CHCHD4 skos:exactMatch hgnc.symbol:CHCHD4 semapv:UnspecifiedMatching OMIM:611077 CHCHD4 skos:exactMatch ncbigene:131474 semapv:UnspecifiedMatching -OMIM:611078 CBWD1 skos:exactMatch hgnc:ZNG1A semapv:UnspecifiedMatching +OMIM:611078 CBWD1 skos:exactMatch hgnc.symbol:ZNG1A semapv:UnspecifiedMatching OMIM:611078 CBWD1 skos:exactMatch ncbigene:55871 semapv:UnspecifiedMatching -OMIM:611079 CBWD2 skos:exactMatch hgnc:ZNG1B semapv:UnspecifiedMatching +OMIM:611079 CBWD2 skos:exactMatch hgnc.symbol:ZNG1B semapv:UnspecifiedMatching OMIM:611079 CBWD2 skos:exactMatch ncbigene:150472 semapv:UnspecifiedMatching -OMIM:611080 CBWD3 skos:exactMatch hgnc:ZNG1C semapv:UnspecifiedMatching +OMIM:611080 CBWD3 skos:exactMatch hgnc.symbol:ZNG1C semapv:UnspecifiedMatching OMIM:611080 CBWD3 skos:exactMatch ncbigene:445571 semapv:UnspecifiedMatching OMIM:611081 inflammatory bowel disease (crohn disease) 10 skos:exactMatch UMLS:C1970207 semapv:UnspecifiedMatching -OMIM:611082 MIAT skos:exactMatch hgnc:MIAT semapv:UnspecifiedMatching +OMIM:611082 MIAT skos:exactMatch hgnc.symbol:33425 semapv:UnspecifiedMatching +OMIM:611082 MIAT skos:exactMatch hgnc.symbol:MIAT semapv:UnspecifiedMatching OMIM:611082 MIAT skos:exactMatch ncbigene:440823 semapv:UnspecifiedMatching -OMIM:611083 ADHFE1 skos:exactMatch hgnc:ADHFE1 semapv:UnspecifiedMatching +OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:16354 semapv:UnspecifiedMatching +OMIM:611083 ADHFE1 skos:exactMatch hgnc.symbol:ADHFE1 semapv:UnspecifiedMatching OMIM:611083 ADHFE1 skos:exactMatch ncbigene:137872 semapv:UnspecifiedMatching -OMIM:611084 FOXD4L1 skos:exactMatch hgnc:FOXD4L1 semapv:UnspecifiedMatching +OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:18521 semapv:UnspecifiedMatching +OMIM:611084 FOXD4L1 skos:exactMatch hgnc.symbol:FOXD4L1 semapv:UnspecifiedMatching OMIM:611084 FOXD4L1 skos:exactMatch ncbigene:200350 semapv:UnspecifiedMatching -OMIM:611085 FOXD4L4 skos:exactMatch hgnc:FOXD4L4 semapv:UnspecifiedMatching +OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:23762 semapv:UnspecifiedMatching +OMIM:611085 FOXD4L4 skos:exactMatch hgnc.symbol:FOXD4L4 semapv:UnspecifiedMatching OMIM:611085 FOXD4L4 skos:exactMatch ncbigene:349334 semapv:UnspecifiedMatching -OMIM:611086 FOXD4L3 skos:exactMatch hgnc:FOXD4L3 semapv:UnspecifiedMatching +OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:18523 semapv:UnspecifiedMatching +OMIM:611086 FOXD4L3 skos:exactMatch hgnc.symbol:FOXD4L3 semapv:UnspecifiedMatching OMIM:611086 FOXD4L3 skos:exactMatch ncbigene:286380 semapv:UnspecifiedMatching OMIM:611088 CCDC65 skos:exactMatch UMLS:C1824589 semapv:UnspecifiedMatching OMIM:611088 CCDC65 skos:exactMatch UMLS:C3809701 semapv:UnspecifiedMatching -OMIM:611088 CCDC65 skos:exactMatch hgnc:CCDC65 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:29937 semapv:UnspecifiedMatching +OMIM:611088 CCDC65 skos:exactMatch hgnc.symbol:CCDC65 semapv:UnspecifiedMatching OMIM:611088 CCDC65 skos:exactMatch ncbigene:85478 semapv:UnspecifiedMatching -OMIM:611089 MTMR14 skos:exactMatch hgnc:MTMR14 semapv:UnspecifiedMatching +OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:26190 semapv:UnspecifiedMatching +OMIM:611089 MTMR14 skos:exactMatch hgnc.symbol:MTMR14 semapv:UnspecifiedMatching OMIM:611089 MTMR14 skos:exactMatch ncbigene:64419 semapv:UnspecifiedMatching +OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching -OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch orphanet.ordo:88616 semapv:UnspecifiedMatching -OMIM:611098 STEAP4 skos:exactMatch hgnc:STEAP4 semapv:UnspecifiedMatching +OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:21923 semapv:UnspecifiedMatching +OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:STEAP4 semapv:UnspecifiedMatching OMIM:611098 STEAP4 skos:exactMatch ncbigene:79689 semapv:UnspecifiedMatching -OMIM:611099 PDIA6 skos:exactMatch hgnc:PDIA6 semapv:UnspecifiedMatching +OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:30168 semapv:UnspecifiedMatching +OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:PDIA6 semapv:UnspecifiedMatching OMIM:611099 PDIA6 skos:exactMatch ncbigene:10130 semapv:UnspecifiedMatching -OMIM:611101 PLEKHG5 skos:exactMatch hgnc:PLEKHG5 semapv:UnspecifiedMatching +OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:29105 semapv:UnspecifiedMatching +OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:PLEKHG5 semapv:UnspecifiedMatching OMIM:611101 PLEKHG5 skos:exactMatch ncbigene:57449 semapv:UnspecifiedMatching -OMIM:611103 ACAD9 skos:exactMatch hgnc:ACAD9 semapv:UnspecifiedMatching +OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:21497 semapv:UnspecifiedMatching +OMIM:611103 ACAD9 skos:exactMatch hgnc.symbol:ACAD9 semapv:UnspecifiedMatching OMIM:611103 ACAD9 skos:exactMatch ncbigene:28976 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch UMLS:C1426031 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch UMLS:C1836336 semapv:UnspecifiedMatching -OMIM:611104 FGD4 skos:exactMatch hgnc:FGD4 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:19125 semapv:UnspecifiedMatching +OMIM:611104 FGD4 skos:exactMatch hgnc.symbol:FGD4 semapv:UnspecifiedMatching OMIM:611104 FGD4 skos:exactMatch ncbigene:121512 semapv:UnspecifiedMatching -OMIM:611106 ZC3H12D skos:exactMatch hgnc:ZC3H12D semapv:UnspecifiedMatching +OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:21175 semapv:UnspecifiedMatching +OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:ZC3H12D semapv:UnspecifiedMatching OMIM:611106 ZC3H12D skos:exactMatch ncbigene:340152 semapv:UnspecifiedMatching -OMIM:611108 VWC2 skos:exactMatch hgnc:VWC2 semapv:UnspecifiedMatching +OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:30200 semapv:UnspecifiedMatching +OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:VWC2 semapv:UnspecifiedMatching OMIM:611108 VWC2 skos:exactMatch ncbigene:375567 semapv:UnspecifiedMatching -OMIM:611110 MAP3K7CL skos:exactMatch hgnc:MAP3K7CL semapv:UnspecifiedMatching +OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:16457 semapv:UnspecifiedMatching +OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:MAP3K7CL semapv:UnspecifiedMatching OMIM:611110 MAP3K7CL skos:exactMatch ncbigene:56911 semapv:UnspecifiedMatching -OMIM:611111 DPPA5 skos:exactMatch hgnc:DPPA5 semapv:UnspecifiedMatching +OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:19201 semapv:UnspecifiedMatching +OMIM:611111 DPPA5 skos:exactMatch hgnc.symbol:DPPA5 semapv:UnspecifiedMatching OMIM:611111 DPPA5 skos:exactMatch ncbigene:340168 semapv:UnspecifiedMatching -OMIM:611112 DACT3 skos:exactMatch hgnc:DACT3 semapv:UnspecifiedMatching +OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:30745 semapv:UnspecifiedMatching +OMIM:611112 DACT3 skos:exactMatch hgnc.symbol:DACT3 semapv:UnspecifiedMatching OMIM:611112 DACT3 skos:exactMatch ncbigene:147906 semapv:UnspecifiedMatching -OMIM:611113 CEMP1 skos:exactMatch hgnc:CEMP1 semapv:UnspecifiedMatching +OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:32553 semapv:UnspecifiedMatching +OMIM:611113 CEMP1 skos:exactMatch hgnc.symbol:CEMP1 semapv:UnspecifiedMatching OMIM:611113 CEMP1 skos:exactMatch ncbigene:752014 semapv:UnspecifiedMatching -OMIM:611114 MIR150 skos:exactMatch hgnc:MIR150 semapv:UnspecifiedMatching +OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:31537 semapv:UnspecifiedMatching +OMIM:611114 MIR150 skos:exactMatch hgnc.symbol:MIR150 semapv:UnspecifiedMatching OMIM:611114 MIR150 skos:exactMatch ncbigene:406942 semapv:UnspecifiedMatching -OMIM:611115 VWCE skos:exactMatch hgnc:VWCE semapv:UnspecifiedMatching +OMIM:611115 VWCE skos:exactMatch hgnc.symbol:26487 semapv:UnspecifiedMatching +OMIM:611115 VWCE skos:exactMatch hgnc.symbol:VWCE semapv:UnspecifiedMatching OMIM:611115 VWCE skos:exactMatch ncbigene:220001 semapv:UnspecifiedMatching -OMIM:611116 MIR208A skos:exactMatch hgnc:MIR208A semapv:UnspecifiedMatching +OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:31585 semapv:UnspecifiedMatching +OMIM:611116 MIR208A skos:exactMatch hgnc.symbol:MIR208A semapv:UnspecifiedMatching OMIM:611116 MIR208A skos:exactMatch ncbigene:406990 semapv:UnspecifiedMatching -OMIM:611117 PPME1 skos:exactMatch hgnc:PPME1 semapv:UnspecifiedMatching +OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:30178 semapv:UnspecifiedMatching +OMIM:611117 PPME1 skos:exactMatch hgnc.symbol:PPME1 semapv:UnspecifiedMatching OMIM:611117 PPME1 skos:exactMatch ncbigene:51400 semapv:UnspecifiedMatching -OMIM:611118 NARFL skos:exactMatch hgnc:CIAO3 semapv:UnspecifiedMatching +OMIM:611118 NARFL skos:exactMatch hgnc.symbol:14179 semapv:UnspecifiedMatching +OMIM:611118 NARFL skos:exactMatch hgnc.symbol:CIAO3 semapv:UnspecifiedMatching OMIM:611118 NARFL skos:exactMatch ncbigene:64428 semapv:UnspecifiedMatching OMIM:611119 KLHL7 skos:exactMatch UMLS:C1423635 semapv:UnspecifiedMatching OMIM:611119 KLHL7 skos:exactMatch UMLS:C2751986 semapv:UnspecifiedMatching OMIM:611119 KLHL7 skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching -OMIM:611119 KLHL7 skos:exactMatch hgnc:KLHL7 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:15646 semapv:UnspecifiedMatching +OMIM:611119 KLHL7 skos:exactMatch hgnc.symbol:KLHL7 semapv:UnspecifiedMatching OMIM:611119 KLHL7 skos:exactMatch ncbigene:55975 semapv:UnspecifiedMatching -OMIM:611120 SPTLC3 skos:exactMatch hgnc:SPTLC3 semapv:UnspecifiedMatching +OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:16253 semapv:UnspecifiedMatching +OMIM:611120 SPTLC3 skos:exactMatch hgnc.symbol:SPTLC3 semapv:UnspecifiedMatching OMIM:611120 SPTLC3 skos:exactMatch ncbigene:55304 semapv:UnspecifiedMatching -OMIM:611121 CLMN skos:exactMatch hgnc:CLMN semapv:UnspecifiedMatching +OMIM:611121 CLMN skos:exactMatch hgnc.symbol:19972 semapv:UnspecifiedMatching +OMIM:611121 CLMN skos:exactMatch hgnc.symbol:CLMN semapv:UnspecifiedMatching OMIM:611121 CLMN skos:exactMatch ncbigene:79789 semapv:UnspecifiedMatching -OMIM:611122 ANKRD28 skos:exactMatch hgnc:ANKRD28 semapv:UnspecifiedMatching +OMIM:611122 ANKRD28 skos:exactMatch hgnc.symbol:29024 semapv:UnspecifiedMatching +OMIM:611122 ANKRD28 skos:exactMatch hgnc.symbol:ANKRD28 semapv:UnspecifiedMatching OMIM:611122 ANKRD28 skos:exactMatch ncbigene:23243 semapv:UnspecifiedMatching -OMIM:611123 EPHA10 skos:exactMatch hgnc:EPHA10 semapv:UnspecifiedMatching +OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:19987 semapv:UnspecifiedMatching +OMIM:611123 EPHA10 skos:exactMatch hgnc.symbol:EPHA10 semapv:UnspecifiedMatching OMIM:611123 EPHA10 skos:exactMatch ncbigene:284656 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch UMLS:C1838571 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch UMLS:C1970174 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch UMLS:C4015371 semapv:UnspecifiedMatching -OMIM:611124 MFSD8 skos:exactMatch hgnc:MFSD8 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:28486 semapv:UnspecifiedMatching +OMIM:611124 MFSD8 skos:exactMatch hgnc.symbol:MFSD8 semapv:UnspecifiedMatching OMIM:611124 MFSD8 skos:exactMatch ncbigene:256471 semapv:UnspecifiedMatching -OMIM:611125 DSEL skos:exactMatch hgnc:DSEL semapv:UnspecifiedMatching +OMIM:611125 DSEL skos:exactMatch hgnc.symbol:18144 semapv:UnspecifiedMatching +OMIM:611125 DSEL skos:exactMatch hgnc.symbol:DSEL semapv:UnspecifiedMatching OMIM:611125 DSEL skos:exactMatch ncbigene:92126 semapv:UnspecifiedMatching -OMIM:611127 UBL4B skos:exactMatch hgnc:UBL4B semapv:UnspecifiedMatching +OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:32309 semapv:UnspecifiedMatching +OMIM:611127 UBL4B skos:exactMatch hgnc.symbol:UBL4B semapv:UnspecifiedMatching OMIM:611127 UBL4B skos:exactMatch ncbigene:164153 semapv:UnspecifiedMatching -OMIM:611128 MDGA2 skos:exactMatch hgnc:MDGA2 semapv:UnspecifiedMatching +OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:19835 semapv:UnspecifiedMatching +OMIM:611128 MDGA2 skos:exactMatch hgnc.symbol:MDGA2 semapv:UnspecifiedMatching OMIM:611128 MDGA2 skos:exactMatch ncbigene:161357 semapv:UnspecifiedMatching -OMIM:611129 WBP1L skos:exactMatch hgnc:WBP1L semapv:UnspecifiedMatching +OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:23510 semapv:UnspecifiedMatching +OMIM:611129 WBP1L skos:exactMatch hgnc.symbol:WBP1L semapv:UnspecifiedMatching OMIM:611129 WBP1L skos:exactMatch ncbigene:54838 semapv:UnspecifiedMatching OMIM:611130 CHMP7 skos:exactMatch UMLS:C1538462 semapv:UnspecifiedMatching -OMIM:611130 CHMP7 skos:exactMatch hgnc:CHMP7 semapv:UnspecifiedMatching +OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:28439 semapv:UnspecifiedMatching +OMIM:611130 CHMP7 skos:exactMatch hgnc.symbol:CHMP7 semapv:UnspecifiedMatching OMIM:611130 CHMP7 skos:exactMatch ncbigene:91782 semapv:UnspecifiedMatching -OMIM:611132 RBKS skos:exactMatch hgnc:RBKS semapv:UnspecifiedMatching +OMIM:611132 RBKS skos:exactMatch hgnc.symbol:30325 semapv:UnspecifiedMatching +OMIM:611132 RBKS skos:exactMatch hgnc.symbol:RBKS semapv:UnspecifiedMatching OMIM:611132 RBKS skos:exactMatch ncbigene:64080 semapv:UnspecifiedMatching -OMIM:611133 SNORD82 skos:exactMatch hgnc:SNORD82 semapv:UnspecifiedMatching +OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:10240 semapv:UnspecifiedMatching +OMIM:611133 SNORD82 skos:exactMatch hgnc.symbol:SNORD82 semapv:UnspecifiedMatching OMIM:611133 SNORD82 skos:exactMatch ncbigene:25826 semapv:UnspecifiedMatching -OMIM:611135 KLB skos:exactMatch hgnc:KLB semapv:UnspecifiedMatching +OMIM:611135 KLB skos:exactMatch hgnc.symbol:15527 semapv:UnspecifiedMatching +OMIM:611135 KLB skos:exactMatch hgnc.symbol:KLB semapv:UnspecifiedMatching OMIM:611135 KLB skos:exactMatch ncbigene:152831 semapv:UnspecifiedMatching -OMIM:611137 PSMB11 skos:exactMatch hgnc:PSMB11 semapv:UnspecifiedMatching +OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:31963 semapv:UnspecifiedMatching +OMIM:611137 PSMB11 skos:exactMatch hgnc.symbol:PSMB11 semapv:UnspecifiedMatching OMIM:611137 PSMB11 skos:exactMatch ncbigene:122706 semapv:UnspecifiedMatching -OMIM:611138 STRBP skos:exactMatch hgnc:STRBP semapv:UnspecifiedMatching +OMIM:611138 STRBP skos:exactMatch hgnc.symbol:16462 semapv:UnspecifiedMatching +OMIM:611138 STRBP skos:exactMatch hgnc.symbol:STRBP semapv:UnspecifiedMatching OMIM:611138 STRBP skos:exactMatch ncbigene:55342 semapv:UnspecifiedMatching -OMIM:611140 TELO2 skos:exactMatch hgnc:TELO2 semapv:UnspecifiedMatching +OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:29099 semapv:UnspecifiedMatching +OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:TELO2 semapv:UnspecifiedMatching OMIM:611140 TELO2 skos:exactMatch ncbigene:9894 semapv:UnspecifiedMatching OMIM:611141 MIB2 skos:exactMatch UMLS:C1537693 semapv:UnspecifiedMatching OMIM:611141 MIB2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611141 MIB2 skos:exactMatch hgnc:MIB2 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:30577 semapv:UnspecifiedMatching +OMIM:611141 MIB2 skos:exactMatch hgnc.symbol:MIB2 semapv:UnspecifiedMatching OMIM:611141 MIB2 skos:exactMatch ncbigene:142678 semapv:UnspecifiedMatching -OMIM:611142 CKAP5 skos:exactMatch hgnc:CKAP5 semapv:UnspecifiedMatching +OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:28959 semapv:UnspecifiedMatching +OMIM:611142 CKAP5 skos:exactMatch hgnc.symbol:CKAP5 semapv:UnspecifiedMatching OMIM:611142 CKAP5 skos:exactMatch ncbigene:9793 semapv:UnspecifiedMatching -OMIM:611143 ABRAXAS1 skos:exactMatch hgnc:ABRAXAS1 semapv:UnspecifiedMatching +OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:25829 semapv:UnspecifiedMatching +OMIM:611143 ABRAXAS1 skos:exactMatch hgnc.symbol:ABRAXAS1 semapv:UnspecifiedMatching OMIM:611143 ABRAXAS1 skos:exactMatch ncbigene:84142 semapv:UnspecifiedMatching -OMIM:611144 ABRAXAS2 skos:exactMatch hgnc:ABRAXAS2 semapv:UnspecifiedMatching +OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:28975 semapv:UnspecifiedMatching +OMIM:611144 ABRAXAS2 skos:exactMatch hgnc.symbol:ABRAXAS2 semapv:UnspecifiedMatching OMIM:611144 ABRAXAS2 skos:exactMatch ncbigene:23172 semapv:UnspecifiedMatching OMIM:611145 SLC30A8 skos:exactMatch UMLS:C1426844 semapv:UnspecifiedMatching OMIM:611145 SLC30A8 skos:exactMatch UMLS:C3837967 semapv:UnspecifiedMatching OMIM:611145 SLC30A8 skos:exactMatch UMLS:C4017238 semapv:UnspecifiedMatching -OMIM:611145 SLC30A8 skos:exactMatch hgnc:SLC30A8 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:20303 semapv:UnspecifiedMatching +OMIM:611145 SLC30A8 skos:exactMatch hgnc.symbol:SLC30A8 semapv:UnspecifiedMatching OMIM:611145 SLC30A8 skos:exactMatch ncbigene:169026 semapv:UnspecifiedMatching OMIM:611146 SLC30A10 skos:exactMatch UMLS:C1822757 semapv:UnspecifiedMatching OMIM:611146 SLC30A10 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching -OMIM:611146 SLC30A10 skos:exactMatch hgnc:SLC30A10 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:25355 semapv:UnspecifiedMatching +OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:SLC30A10 semapv:UnspecifiedMatching OMIM:611146 SLC30A10 skos:exactMatch ncbigene:55532 semapv:UnspecifiedMatching -OMIM:611148 SLC30A6 skos:exactMatch hgnc:SLC30A6 semapv:UnspecifiedMatching +OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:19305 semapv:UnspecifiedMatching +OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:SLC30A6 semapv:UnspecifiedMatching OMIM:611148 SLC30A6 skos:exactMatch ncbigene:55676 semapv:UnspecifiedMatching -OMIM:611149 SLC30A7 skos:exactMatch hgnc:SLC30A7 semapv:UnspecifiedMatching +OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:19306 semapv:UnspecifiedMatching +OMIM:611149 SLC30A7 skos:exactMatch hgnc.symbol:SLC30A7 semapv:UnspecifiedMatching OMIM:611149 SLC30A7 skos:exactMatch ncbigene:148867 semapv:UnspecifiedMatching -OMIM:611150 ATXN10 skos:exactMatch hgnc:ATXN10 semapv:UnspecifiedMatching +OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:10549 semapv:UnspecifiedMatching +OMIM:611150 ATXN10 skos:exactMatch hgnc.symbol:ATXN10 semapv:UnspecifiedMatching OMIM:611150 ATXN10 skos:exactMatch ncbigene:25814 semapv:UnspecifiedMatching -OMIM:611151 TRMT2A skos:exactMatch hgnc:TRMT2A semapv:UnspecifiedMatching +OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:24974 semapv:UnspecifiedMatching +OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:TRMT2A semapv:UnspecifiedMatching OMIM:611151 TRMT2A skos:exactMatch ncbigene:27037 semapv:UnspecifiedMatching -OMIM:611153 XPA skos:exactMatch hgnc:XPA semapv:UnspecifiedMatching +OMIM:611153 XPA skos:exactMatch hgnc.symbol:12814 semapv:UnspecifiedMatching +OMIM:611153 XPA skos:exactMatch hgnc.symbol:XPA semapv:UnspecifiedMatching OMIM:611153 XPA skos:exactMatch ncbigene:7507 semapv:UnspecifiedMatching -OMIM:611156 ERMP1 skos:exactMatch hgnc:ERMP1 semapv:UnspecifiedMatching +OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:23703 semapv:UnspecifiedMatching +OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:ERMP1 semapv:UnspecifiedMatching OMIM:611156 ERMP1 skos:exactMatch ncbigene:79956 semapv:UnspecifiedMatching -OMIM:611157 MRGBP skos:exactMatch hgnc:MRGBP semapv:UnspecifiedMatching +OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:15866 semapv:UnspecifiedMatching +OMIM:611157 MRGBP skos:exactMatch hgnc.symbol:MRGBP semapv:UnspecifiedMatching OMIM:611157 MRGBP skos:exactMatch ncbigene:55257 semapv:UnspecifiedMatching -OMIM:611158 KRT77 skos:exactMatch hgnc:KRT77 semapv:UnspecifiedMatching +OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:20411 semapv:UnspecifiedMatching +OMIM:611158 KRT77 skos:exactMatch hgnc.symbol:KRT77 semapv:UnspecifiedMatching OMIM:611158 KRT77 skos:exactMatch ncbigene:374454 semapv:UnspecifiedMatching -OMIM:611159 KRT78 skos:exactMatch hgnc:KRT78 semapv:UnspecifiedMatching +OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:28926 semapv:UnspecifiedMatching +OMIM:611159 KRT78 skos:exactMatch hgnc.symbol:KRT78 semapv:UnspecifiedMatching OMIM:611159 KRT78 skos:exactMatch ncbigene:196374 semapv:UnspecifiedMatching -OMIM:611160 KRT79 skos:exactMatch hgnc:KRT79 semapv:UnspecifiedMatching +OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:28930 semapv:UnspecifiedMatching +OMIM:611160 KRT79 skos:exactMatch hgnc.symbol:KRT79 semapv:UnspecifiedMatching OMIM:611160 KRT79 skos:exactMatch ncbigene:338785 semapv:UnspecifiedMatching -OMIM:611161 KRT80 skos:exactMatch hgnc:KRT80 semapv:UnspecifiedMatching +OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:27056 semapv:UnspecifiedMatching +OMIM:611161 KRT80 skos:exactMatch hgnc.symbol:KRT80 semapv:UnspecifiedMatching OMIM:611161 KRT80 skos:exactMatch ncbigene:144501 semapv:UnspecifiedMatching +OMIM:611162 malaria, susceptibility to skos:exactMatch Orphanet:673 semapv:UnspecifiedMatching OMIM:611162 malaria, susceptibility to skos:exactMatch UMLS:C1970028 semapv:UnspecifiedMatching -OMIM:611162 malaria, susceptibility to skos:exactMatch orphanet.ordo:673 semapv:UnspecifiedMatching -OMIM:611163 TOX2 skos:exactMatch hgnc:TOX2 semapv:UnspecifiedMatching +OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:16095 semapv:UnspecifiedMatching +OMIM:611163 TOX2 skos:exactMatch hgnc.symbol:TOX2 semapv:UnspecifiedMatching OMIM:611163 TOX2 skos:exactMatch ncbigene:84969 semapv:UnspecifiedMatching OMIM:611164 ARGFX skos:exactMatch UMLS:C1824195 semapv:UnspecifiedMatching -OMIM:611164 ARGFX skos:exactMatch hgnc:ARGFX semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:30146 semapv:UnspecifiedMatching +OMIM:611164 ARGFX skos:exactMatch hgnc.symbol:ARGFX semapv:UnspecifiedMatching OMIM:611164 ARGFX skos:exactMatch ncbigene:503582 semapv:UnspecifiedMatching OMIM:611165 DPRX skos:exactMatch UMLS:C1824964 semapv:UnspecifiedMatching -OMIM:611165 DPRX skos:exactMatch hgnc:DPRX semapv:UnspecifiedMatching +OMIM:611165 DPRX skos:exactMatch hgnc.symbol:32166 semapv:UnspecifiedMatching +OMIM:611165 DPRX skos:exactMatch hgnc.symbol:DPRX semapv:UnspecifiedMatching OMIM:611165 DPRX skos:exactMatch ncbigene:503834 semapv:UnspecifiedMatching OMIM:611166 TPRX1 skos:exactMatch UMLS:C1823470 semapv:UnspecifiedMatching -OMIM:611166 TPRX1 skos:exactMatch hgnc:TPRX1 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:32174 semapv:UnspecifiedMatching +OMIM:611166 TPRX1 skos:exactMatch hgnc.symbol:TPRX1 semapv:UnspecifiedMatching OMIM:611166 TPRX1 skos:exactMatch ncbigene:284355 semapv:UnspecifiedMatching -OMIM:611167 TPRXL skos:exactMatch hgnc:TPRXL semapv:UnspecifiedMatching +OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:32178 semapv:UnspecifiedMatching +OMIM:611167 TPRXL skos:exactMatch hgnc.symbol:TPRXL semapv:UnspecifiedMatching OMIM:611167 TPRXL skos:exactMatch ncbigene:348825 semapv:UnspecifiedMatching OMIM:611168 DUXA skos:exactMatch UMLS:C1824994 semapv:UnspecifiedMatching -OMIM:611168 DUXA skos:exactMatch hgnc:DUXA semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch hgnc.symbol:32179 semapv:UnspecifiedMatching +OMIM:611168 DUXA skos:exactMatch hgnc.symbol:DUXA semapv:UnspecifiedMatching OMIM:611168 DUXA skos:exactMatch ncbigene:503835 semapv:UnspecifiedMatching -OMIM:611169 CATSPERB skos:exactMatch hgnc:CATSPERB semapv:UnspecifiedMatching +OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:20500 semapv:UnspecifiedMatching +OMIM:611169 CATSPERB skos:exactMatch hgnc.symbol:CATSPERB semapv:UnspecifiedMatching OMIM:611169 CATSPERB skos:exactMatch ncbigene:79820 semapv:UnspecifiedMatching OMIM:611170 SAMD9L skos:exactMatch UMLS:C1327919 semapv:UnspecifiedMatching OMIM:611170 SAMD9L skos:exactMatch UMLS:C1826970 semapv:UnspecifiedMatching OMIM:611170 SAMD9L skos:exactMatch UMLS:C5435704 semapv:UnspecifiedMatching -OMIM:611170 SAMD9L skos:exactMatch hgnc:SAMD9L semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:1349 semapv:UnspecifiedMatching +OMIM:611170 SAMD9L skos:exactMatch hgnc.symbol:SAMD9L semapv:UnspecifiedMatching OMIM:611170 SAMD9L skos:exactMatch ncbigene:219285 semapv:UnspecifiedMatching -OMIM:611171 SHTN1 skos:exactMatch hgnc:SHTN1 semapv:UnspecifiedMatching +OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:29319 semapv:UnspecifiedMatching +OMIM:611171 SHTN1 skos:exactMatch hgnc.symbol:SHTN1 semapv:UnspecifiedMatching OMIM:611171 SHTN1 skos:exactMatch ncbigene:57698 semapv:UnspecifiedMatching OMIM:611172 MIR34A skos:exactMatch UMLS:C1537745 semapv:UnspecifiedMatching -OMIM:611172 MIR34A skos:exactMatch hgnc:MIR34A semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:31635 semapv:UnspecifiedMatching +OMIM:611172 MIR34A skos:exactMatch hgnc.symbol:MIR34A semapv:UnspecifiedMatching OMIM:611172 MIR34A skos:exactMatch ncbigene:407040 semapv:UnspecifiedMatching -OMIM:611173 MIR375 skos:exactMatch hgnc:MIR375 semapv:UnspecifiedMatching +OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:31868 semapv:UnspecifiedMatching +OMIM:611173 MIR375 skos:exactMatch hgnc.symbol:MIR375 semapv:UnspecifiedMatching OMIM:611173 MIR375 skos:exactMatch ncbigene:494324 semapv:UnspecifiedMatching -OMIM:611175 OLA1 skos:exactMatch hgnc:OLA1 semapv:UnspecifiedMatching +OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:28833 semapv:UnspecifiedMatching +OMIM:611175 OLA1 skos:exactMatch hgnc.symbol:OLA1 semapv:UnspecifiedMatching OMIM:611175 OLA1 skos:exactMatch ncbigene:29789 semapv:UnspecifiedMatching -OMIM:611176 JKAMP skos:exactMatch hgnc:JKAMP semapv:UnspecifiedMatching +OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:20184 semapv:UnspecifiedMatching +OMIM:611176 JKAMP skos:exactMatch hgnc.symbol:JKAMP semapv:UnspecifiedMatching OMIM:611176 JKAMP skos:exactMatch ncbigene:51528 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch UMLS:C1825570 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch UMLS:C4017239 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch UMLS:C4017240 semapv:UnspecifiedMatching -OMIM:611177 IFT80 skos:exactMatch hgnc:IFT80 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:29262 semapv:UnspecifiedMatching +OMIM:611177 IFT80 skos:exactMatch hgnc.symbol:IFT80 semapv:UnspecifiedMatching OMIM:611177 IFT80 skos:exactMatch ncbigene:57560 semapv:UnspecifiedMatching -OMIM:611178 GALP skos:exactMatch hgnc:GALP semapv:UnspecifiedMatching +OMIM:611178 GALP skos:exactMatch hgnc.symbol:24840 semapv:UnspecifiedMatching +OMIM:611178 GALP skos:exactMatch hgnc.symbol:GALP semapv:UnspecifiedMatching OMIM:611178 GALP skos:exactMatch ncbigene:85569 semapv:UnspecifiedMatching -OMIM:611179 SHROOM1 skos:exactMatch hgnc:SHROOM1 semapv:UnspecifiedMatching +OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:24084 semapv:UnspecifiedMatching +OMIM:611179 SHROOM1 skos:exactMatch hgnc.symbol:SHROOM1 semapv:UnspecifiedMatching OMIM:611179 SHROOM1 skos:exactMatch ncbigene:134549 semapv:UnspecifiedMatching -OMIM:611180 NELFB skos:exactMatch hgnc:NELFB semapv:UnspecifiedMatching +OMIM:611180 NELFB skos:exactMatch hgnc.symbol:24324 semapv:UnspecifiedMatching +OMIM:611180 NELFB skos:exactMatch hgnc.symbol:NELFB semapv:UnspecifiedMatching OMIM:611180 NELFB skos:exactMatch ncbigene:25920 semapv:UnspecifiedMatching -OMIM:611181 ACAD10 skos:exactMatch hgnc:ACAD10 semapv:UnspecifiedMatching +OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:21597 semapv:UnspecifiedMatching +OMIM:611181 ACAD10 skos:exactMatch hgnc.symbol:ACAD10 semapv:UnspecifiedMatching OMIM:611181 ACAD10 skos:exactMatch ncbigene:80724 semapv:UnspecifiedMatching +OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch Orphanet:95428 semapv:UnspecifiedMatching OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch UMLS:C1970021 semapv:UnspecifiedMatching -OMIM:611182 congenital disorder of glycosylation, iia iih skos:exactMatch orphanet.ordo:95428 semapv:UnspecifiedMatching -OMIM:611183 BRK1 skos:exactMatch hgnc:BRK1 semapv:UnspecifiedMatching +OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:23057 semapv:UnspecifiedMatching +OMIM:611183 BRK1 skos:exactMatch hgnc.symbol:BRK1 semapv:UnspecifiedMatching OMIM:611183 BRK1 skos:exactMatch ncbigene:55845 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C0272051 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C1539428 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017241 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4017242 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch UMLS:C4749121 semapv:UnspecifiedMatching -OMIM:611184 PIEZO1 skos:exactMatch hgnc:PIEZO1 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:28993 semapv:UnspecifiedMatching +OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:PIEZO1 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch ncbigene:9780 semapv:UnspecifiedMatching -OMIM:611186 MIR9-1 skos:exactMatch hgnc:MIR9-1 semapv:UnspecifiedMatching +OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:31641 semapv:UnspecifiedMatching +OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:MIR9-1 semapv:UnspecifiedMatching OMIM:611186 MIR9-1 skos:exactMatch ncbigene:407046 semapv:UnspecifiedMatching -OMIM:611187 MIR9-2 skos:exactMatch hgnc:MIR9-2 semapv:UnspecifiedMatching +OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:31642 semapv:UnspecifiedMatching +OMIM:611187 MIR9-2 skos:exactMatch hgnc.symbol:MIR9-2 semapv:UnspecifiedMatching OMIM:611187 MIR9-2 skos:exactMatch ncbigene:407047 semapv:UnspecifiedMatching -OMIM:611188 MIR9-3 skos:exactMatch hgnc:MIR9-3 semapv:UnspecifiedMatching +OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:31646 semapv:UnspecifiedMatching +OMIM:611188 MIR9-3 skos:exactMatch hgnc.symbol:MIR9-3 semapv:UnspecifiedMatching OMIM:611188 MIR9-3 skos:exactMatch ncbigene:407051 semapv:UnspecifiedMatching -OMIM:611189 MIR197 skos:exactMatch hgnc:MIR197 semapv:UnspecifiedMatching +OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:31569 semapv:UnspecifiedMatching +OMIM:611189 MIR197 skos:exactMatch hgnc.symbol:MIR197 semapv:UnspecifiedMatching OMIM:611189 MIR197 skos:exactMatch ncbigene:406974 semapv:UnspecifiedMatching -OMIM:611190 MIR346 skos:exactMatch hgnc:MIR346 semapv:UnspecifiedMatching +OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:31780 semapv:UnspecifiedMatching +OMIM:611190 MIR346 skos:exactMatch hgnc.symbol:MIR346 semapv:UnspecifiedMatching OMIM:611190 MIR346 skos:exactMatch ncbigene:442911 semapv:UnspecifiedMatching -OMIM:611191 MIR125A skos:exactMatch hgnc:MIR125A semapv:UnspecifiedMatching +OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:31505 semapv:UnspecifiedMatching +OMIM:611191 MIR125A skos:exactMatch hgnc.symbol:MIR125A semapv:UnspecifiedMatching OMIM:611191 MIR125A skos:exactMatch ncbigene:406910 semapv:UnspecifiedMatching -OMIM:611192 ANKRD11 skos:exactMatch hgnc:ANKRD11 semapv:UnspecifiedMatching +OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:21316 semapv:UnspecifiedMatching +OMIM:611192 ANKRD11 skos:exactMatch hgnc.symbol:ANKRD11 semapv:UnspecifiedMatching OMIM:611192 ANKRD11 skos:exactMatch ncbigene:29123 semapv:UnspecifiedMatching -OMIM:611193 RRP15 skos:exactMatch hgnc:RRP15 semapv:UnspecifiedMatching +OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:24255 semapv:UnspecifiedMatching +OMIM:611193 RRP15 skos:exactMatch hgnc.symbol:RRP15 semapv:UnspecifiedMatching OMIM:611193 RRP15 skos:exactMatch ncbigene:51018 semapv:UnspecifiedMatching -OMIM:611194 RUFY3 skos:exactMatch hgnc:RUFY3 semapv:UnspecifiedMatching +OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:30285 semapv:UnspecifiedMatching +OMIM:611194 RUFY3 skos:exactMatch hgnc.symbol:RUFY3 semapv:UnspecifiedMatching OMIM:611194 RUFY3 skos:exactMatch ncbigene:22902 semapv:UnspecifiedMatching -OMIM:611195 JAKMIP1 skos:exactMatch hgnc:JAKMIP1 semapv:UnspecifiedMatching +OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:26460 semapv:UnspecifiedMatching +OMIM:611195 JAKMIP1 skos:exactMatch hgnc.symbol:JAKMIP1 semapv:UnspecifiedMatching OMIM:611195 JAKMIP1 skos:exactMatch ncbigene:152789 semapv:UnspecifiedMatching OMIM:611196 ZMIZ2 skos:exactMatch UMLS:C1823957 semapv:UnspecifiedMatching -OMIM:611196 ZMIZ2 skos:exactMatch hgnc:ZMIZ2 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:22229 semapv:UnspecifiedMatching +OMIM:611196 ZMIZ2 skos:exactMatch hgnc.symbol:ZMIZ2 semapv:UnspecifiedMatching OMIM:611196 ZMIZ2 skos:exactMatch ncbigene:83637 semapv:UnspecifiedMatching -OMIM:611197 JAKMIP2 skos:exactMatch hgnc:JAKMIP2 semapv:UnspecifiedMatching +OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:29067 semapv:UnspecifiedMatching +OMIM:611197 JAKMIP2 skos:exactMatch hgnc.symbol:JAKMIP2 semapv:UnspecifiedMatching OMIM:611197 JAKMIP2 skos:exactMatch ncbigene:9832 semapv:UnspecifiedMatching -OMIM:611198 JAKMIP3 skos:exactMatch hgnc:JAKMIP3 semapv:UnspecifiedMatching +OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:23523 semapv:UnspecifiedMatching +OMIM:611198 JAKMIP3 skos:exactMatch hgnc.symbol:JAKMIP3 semapv:UnspecifiedMatching OMIM:611198 JAKMIP3 skos:exactMatch ncbigene:282973 semapv:UnspecifiedMatching -OMIM:611199 DNTTIP2 skos:exactMatch hgnc:DNTTIP2 semapv:UnspecifiedMatching +OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:24013 semapv:UnspecifiedMatching +OMIM:611199 DNTTIP2 skos:exactMatch hgnc.symbol:DNTTIP2 semapv:UnspecifiedMatching OMIM:611199 DNTTIP2 skos:exactMatch ncbigene:30836 semapv:UnspecifiedMatching -OMIM:611200 TDRD6 skos:exactMatch hgnc:TDRD6 semapv:UnspecifiedMatching +OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:21339 semapv:UnspecifiedMatching +OMIM:611200 TDRD6 skos:exactMatch hgnc.symbol:TDRD6 semapv:UnspecifiedMatching OMIM:611200 TDRD6 skos:exactMatch ncbigene:221400 semapv:UnspecifiedMatching -OMIM:611201 KLHL9 skos:exactMatch hgnc:KLHL9 semapv:UnspecifiedMatching +OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:18732 semapv:UnspecifiedMatching +OMIM:611201 KLHL9 skos:exactMatch hgnc.symbol:KLHL9 semapv:UnspecifiedMatching OMIM:611201 KLHL9 skos:exactMatch ncbigene:55958 semapv:UnspecifiedMatching -OMIM:611202 ASAH2 skos:exactMatch hgnc:ASAH2 semapv:UnspecifiedMatching +OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:18860 semapv:UnspecifiedMatching +OMIM:611202 ASAH2 skos:exactMatch hgnc.symbol:ASAH2 semapv:UnspecifiedMatching OMIM:611202 ASAH2 skos:exactMatch ncbigene:56624 semapv:UnspecifiedMatching -OMIM:611203 DNAJC5 skos:exactMatch hgnc:DNAJC5 semapv:UnspecifiedMatching +OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:16235 semapv:UnspecifiedMatching +OMIM:611203 DNAJC5 skos:exactMatch hgnc.symbol:DNAJC5 semapv:UnspecifiedMatching OMIM:611203 DNAJC5 skos:exactMatch ncbigene:80331 semapv:UnspecifiedMatching -OMIM:611204 CCDC88C skos:exactMatch hgnc:CCDC88C semapv:UnspecifiedMatching +OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:19967 semapv:UnspecifiedMatching +OMIM:611204 CCDC88C skos:exactMatch hgnc.symbol:CCDC88C semapv:UnspecifiedMatching OMIM:611204 CCDC88C skos:exactMatch ncbigene:440193 semapv:UnspecifiedMatching -OMIM:611205 CCDC88B skos:exactMatch hgnc:CCDC88B semapv:UnspecifiedMatching +OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:26757 semapv:UnspecifiedMatching +OMIM:611205 CCDC88B skos:exactMatch hgnc.symbol:CCDC88B semapv:UnspecifiedMatching OMIM:611205 CCDC88B skos:exactMatch ncbigene:283234 semapv:UnspecifiedMatching -OMIM:611206 DNAJC9 skos:exactMatch hgnc:DNAJC9 semapv:UnspecifiedMatching +OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:19123 semapv:UnspecifiedMatching +OMIM:611206 DNAJC9 skos:exactMatch hgnc.symbol:DNAJC9 semapv:UnspecifiedMatching OMIM:611206 DNAJC9 skos:exactMatch ncbigene:23234 semapv:UnspecifiedMatching -OMIM:611207 DNAJC1 skos:exactMatch hgnc:DNAJC1 semapv:UnspecifiedMatching +OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:20090 semapv:UnspecifiedMatching +OMIM:611207 DNAJC1 skos:exactMatch hgnc.symbol:DNAJC1 semapv:UnspecifiedMatching OMIM:611207 DNAJC1 skos:exactMatch ncbigene:64215 semapv:UnspecifiedMatching -OMIM:611208 HNRNPLL skos:exactMatch hgnc:HNRNPLL semapv:UnspecifiedMatching +OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:25127 semapv:UnspecifiedMatching +OMIM:611208 HNRNPLL skos:exactMatch hgnc.symbol:HNRNPLL semapv:UnspecifiedMatching OMIM:611208 HNRNPLL skos:exactMatch ncbigene:92906 semapv:UnspecifiedMatching +OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch Orphanet:263508 semapv:UnspecifiedMatching OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch UMLS:C2931011 semapv:UnspecifiedMatching -OMIM:611209 congenital disorder of glycosylation, iia iig skos:exactMatch orphanet.ordo:263508 semapv:UnspecifiedMatching -OMIM:611210 PBK skos:exactMatch hgnc:PBK semapv:UnspecifiedMatching +OMIM:611210 PBK skos:exactMatch hgnc.symbol:18282 semapv:UnspecifiedMatching +OMIM:611210 PBK skos:exactMatch hgnc.symbol:PBK semapv:UnspecifiedMatching OMIM:611210 PBK skos:exactMatch ncbigene:55872 semapv:UnspecifiedMatching -OMIM:611211 RELT skos:exactMatch hgnc:RELT semapv:UnspecifiedMatching +OMIM:611211 RELT skos:exactMatch hgnc.symbol:13764 semapv:UnspecifiedMatching +OMIM:611211 RELT skos:exactMatch hgnc.symbol:RELT semapv:UnspecifiedMatching OMIM:611211 RELT skos:exactMatch ncbigene:84957 semapv:UnspecifiedMatching -OMIM:611212 RELL1 skos:exactMatch hgnc:RELL1 semapv:UnspecifiedMatching +OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:27379 semapv:UnspecifiedMatching +OMIM:611212 RELL1 skos:exactMatch hgnc.symbol:RELL1 semapv:UnspecifiedMatching OMIM:611212 RELL1 skos:exactMatch ncbigene:768211 semapv:UnspecifiedMatching -OMIM:611213 RELL2 skos:exactMatch hgnc:RELL2 semapv:UnspecifiedMatching +OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:26902 semapv:UnspecifiedMatching +OMIM:611213 RELL2 skos:exactMatch hgnc.symbol:RELL2 semapv:UnspecifiedMatching OMIM:611213 RELL2 skos:exactMatch ncbigene:285613 semapv:UnspecifiedMatching -OMIM:611214 TSR1 skos:exactMatch hgnc:TSR1 semapv:UnspecifiedMatching +OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:25542 semapv:UnspecifiedMatching +OMIM:611214 TSR1 skos:exactMatch hgnc.symbol:TSR1 semapv:UnspecifiedMatching OMIM:611214 TSR1 skos:exactMatch ncbigene:55720 semapv:UnspecifiedMatching -OMIM:611215 PWRN1 skos:exactMatch hgnc:PWRN1 semapv:UnspecifiedMatching +OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:33235 semapv:UnspecifiedMatching +OMIM:611215 PWRN1 skos:exactMatch hgnc.symbol:PWRN1 semapv:UnspecifiedMatching OMIM:611215 PWRN1 skos:exactMatch ncbigene:791114 semapv:UnspecifiedMatching -OMIM:611216 UBXN4 skos:exactMatch hgnc:UBXN4 semapv:UnspecifiedMatching +OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:14860 semapv:UnspecifiedMatching +OMIM:611216 UBXN4 skos:exactMatch hgnc.symbol:UBXN4 semapv:UnspecifiedMatching OMIM:611216 UBXN4 skos:exactMatch ncbigene:23190 semapv:UnspecifiedMatching -OMIM:611217 PWRN2 skos:exactMatch hgnc:PWRN2 semapv:UnspecifiedMatching +OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:33236 semapv:UnspecifiedMatching +OMIM:611217 PWRN2 skos:exactMatch hgnc.symbol:PWRN2 semapv:UnspecifiedMatching OMIM:611217 PWRN2 skos:exactMatch ncbigene:791115 semapv:UnspecifiedMatching -OMIM:611218 GSDMA skos:exactMatch hgnc:GSDMA semapv:UnspecifiedMatching +OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:13311 semapv:UnspecifiedMatching +OMIM:611218 GSDMA skos:exactMatch hgnc.symbol:GSDMA semapv:UnspecifiedMatching OMIM:611218 GSDMA skos:exactMatch ncbigene:284110 semapv:UnspecifiedMatching -OMIM:611219 UNC45A skos:exactMatch hgnc:UNC45A semapv:UnspecifiedMatching +OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:30594 semapv:UnspecifiedMatching +OMIM:611219 UNC45A skos:exactMatch hgnc.symbol:UNC45A semapv:UnspecifiedMatching OMIM:611219 UNC45A skos:exactMatch ncbigene:55898 semapv:UnspecifiedMatching -OMIM:611220 UNC45B skos:exactMatch hgnc:UNC45B semapv:UnspecifiedMatching +OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:14304 semapv:UnspecifiedMatching +OMIM:611220 UNC45B skos:exactMatch hgnc.symbol:UNC45B semapv:UnspecifiedMatching OMIM:611220 UNC45B skos:exactMatch ncbigene:146862 semapv:UnspecifiedMatching OMIM:611221 GSDMB skos:exactMatch UMLS:C1428195 semapv:UnspecifiedMatching -OMIM:611221 GSDMB skos:exactMatch hgnc:GSDMB semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:23690 semapv:UnspecifiedMatching +OMIM:611221 GSDMB skos:exactMatch hgnc.symbol:GSDMB semapv:UnspecifiedMatching OMIM:611221 GSDMB skos:exactMatch ncbigene:55876 semapv:UnspecifiedMatching -OMIM:611223 AKT3 skos:exactMatch hgnc:AKT3 semapv:UnspecifiedMatching +OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:393 semapv:UnspecifiedMatching +OMIM:611223 AKT3 skos:exactMatch hgnc.symbol:AKT3 semapv:UnspecifiedMatching OMIM:611223 AKT3 skos:exactMatch ncbigene:10000 semapv:UnspecifiedMatching -OMIM:611224 SUCLG1 skos:exactMatch hgnc:SUCLG1 semapv:UnspecifiedMatching +OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:11449 semapv:UnspecifiedMatching +OMIM:611224 SUCLG1 skos:exactMatch hgnc.symbol:SUCLG1 semapv:UnspecifiedMatching OMIM:611224 SUCLG1 skos:exactMatch ncbigene:8802 semapv:UnspecifiedMatching -OMIM:611226 ARMC3 skos:exactMatch hgnc:ARMC3 semapv:UnspecifiedMatching +OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:30964 semapv:UnspecifiedMatching +OMIM:611226 ARMC3 skos:exactMatch hgnc.symbol:ARMC3 semapv:UnspecifiedMatching OMIM:611226 ARMC3 skos:exactMatch ncbigene:219681 semapv:UnspecifiedMatching -OMIM:611227 HVCN1 skos:exactMatch hgnc:HVCN1 semapv:UnspecifiedMatching +OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:28240 semapv:UnspecifiedMatching +OMIM:611227 HVCN1 skos:exactMatch hgnc.symbol:HVCN1 semapv:UnspecifiedMatching OMIM:611227 HVCN1 skos:exactMatch ncbigene:84329 semapv:UnspecifiedMatching -OMIM:611229 ERLEC1 skos:exactMatch hgnc:ERLEC1 semapv:UnspecifiedMatching +OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:25222 semapv:UnspecifiedMatching +OMIM:611229 ERLEC1 skos:exactMatch hgnc.symbol:ERLEC1 semapv:UnspecifiedMatching OMIM:611229 ERLEC1 skos:exactMatch ncbigene:27248 semapv:UnspecifiedMatching -OMIM:611230 NCAPH2 skos:exactMatch hgnc:NCAPH2 semapv:UnspecifiedMatching +OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:25071 semapv:UnspecifiedMatching +OMIM:611230 NCAPH2 skos:exactMatch hgnc.symbol:NCAPH2 semapv:UnspecifiedMatching OMIM:611230 NCAPH2 skos:exactMatch ncbigene:29781 semapv:UnspecifiedMatching -OMIM:611231 CLDN8 skos:exactMatch hgnc:CLDN8 semapv:UnspecifiedMatching +OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:2050 semapv:UnspecifiedMatching +OMIM:611231 CLDN8 skos:exactMatch hgnc.symbol:CLDN8 semapv:UnspecifiedMatching OMIM:611231 CLDN8 skos:exactMatch ncbigene:9073 semapv:UnspecifiedMatching -OMIM:611232 CLDN12 skos:exactMatch hgnc:CLDN12 semapv:UnspecifiedMatching +OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:2034 semapv:UnspecifiedMatching +OMIM:611232 CLDN12 skos:exactMatch hgnc.symbol:CLDN12 semapv:UnspecifiedMatching OMIM:611232 CLDN12 skos:exactMatch ncbigene:9069 semapv:UnspecifiedMatching -OMIM:611233 ARMETL1 skos:exactMatch hgnc:CDNF semapv:UnspecifiedMatching +OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:24913 semapv:UnspecifiedMatching +OMIM:611233 ARMETL1 skos:exactMatch hgnc.symbol:CDNF semapv:UnspecifiedMatching OMIM:611233 ARMETL1 skos:exactMatch ncbigene:441549 semapv:UnspecifiedMatching -OMIM:611234 FAM84A skos:exactMatch hgnc:LRATD1 semapv:UnspecifiedMatching +OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:20743 semapv:UnspecifiedMatching +OMIM:611234 FAM84A skos:exactMatch hgnc.symbol:LRATD1 semapv:UnspecifiedMatching OMIM:611234 FAM84A skos:exactMatch ncbigene:151354 semapv:UnspecifiedMatching -OMIM:611235 TMEM38A skos:exactMatch hgnc:TMEM38A semapv:UnspecifiedMatching +OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:28462 semapv:UnspecifiedMatching +OMIM:611235 TMEM38A skos:exactMatch hgnc.symbol:TMEM38A semapv:UnspecifiedMatching OMIM:611235 TMEM38A skos:exactMatch ncbigene:79041 semapv:UnspecifiedMatching -OMIM:611236 TMEM38B skos:exactMatch hgnc:TMEM38B semapv:UnspecifiedMatching +OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:25535 semapv:UnspecifiedMatching +OMIM:611236 TMEM38B skos:exactMatch hgnc.symbol:TMEM38B semapv:UnspecifiedMatching OMIM:611236 TMEM38B skos:exactMatch ncbigene:55151 semapv:UnspecifiedMatching -OMIM:611237 BTBD9 skos:exactMatch hgnc:BTBD9 semapv:UnspecifiedMatching +OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:21228 semapv:UnspecifiedMatching +OMIM:611237 BTBD9 skos:exactMatch hgnc.symbol:BTBD9 semapv:UnspecifiedMatching OMIM:611237 BTBD9 skos:exactMatch ncbigene:114781 semapv:UnspecifiedMatching -OMIM:611238 CHCHD7 skos:exactMatch hgnc:CHCHD7 semapv:UnspecifiedMatching +OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:28314 semapv:UnspecifiedMatching +OMIM:611238 CHCHD7 skos:exactMatch hgnc.symbol:CHCHD7 semapv:UnspecifiedMatching OMIM:611238 CHCHD7 skos:exactMatch ncbigene:79145 semapv:UnspecifiedMatching -OMIM:611239 GPRIN1 skos:exactMatch hgnc:GPRIN1 semapv:UnspecifiedMatching +OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:24835 semapv:UnspecifiedMatching +OMIM:611239 GPRIN1 skos:exactMatch hgnc.symbol:GPRIN1 semapv:UnspecifiedMatching OMIM:611239 GPRIN1 skos:exactMatch ncbigene:114787 semapv:UnspecifiedMatching -OMIM:611240 GPRIN2 skos:exactMatch hgnc:GPRIN2 semapv:UnspecifiedMatching +OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:23730 semapv:UnspecifiedMatching +OMIM:611240 GPRIN2 skos:exactMatch hgnc.symbol:GPRIN2 semapv:UnspecifiedMatching OMIM:611240 GPRIN2 skos:exactMatch ncbigene:9721 semapv:UnspecifiedMatching -OMIM:611241 GPRIN3 skos:exactMatch hgnc:GPRIN3 semapv:UnspecifiedMatching +OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:27733 semapv:UnspecifiedMatching +OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:GPRIN3 semapv:UnspecifiedMatching OMIM:611241 GPRIN3 skos:exactMatch ncbigene:285513 semapv:UnspecifiedMatching -OMIM:611243 TYW1 skos:exactMatch hgnc:TYW1 semapv:UnspecifiedMatching +OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:25598 semapv:UnspecifiedMatching +OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:TYW1 semapv:UnspecifiedMatching OMIM:611243 TYW1 skos:exactMatch ncbigene:55253 semapv:UnspecifiedMatching -OMIM:611244 TRMT12 skos:exactMatch hgnc:TRMT12 semapv:UnspecifiedMatching +OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:26091 semapv:UnspecifiedMatching +OMIM:611244 TRMT12 skos:exactMatch hgnc.symbol:TRMT12 semapv:UnspecifiedMatching OMIM:611244 TRMT12 skos:exactMatch ncbigene:55039 semapv:UnspecifiedMatching -OMIM:611245 TYW3 skos:exactMatch hgnc:TYW3 semapv:UnspecifiedMatching +OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:24757 semapv:UnspecifiedMatching +OMIM:611245 TYW3 skos:exactMatch hgnc.symbol:TYW3 semapv:UnspecifiedMatching OMIM:611245 TYW3 skos:exactMatch ncbigene:127253 semapv:UnspecifiedMatching -OMIM:611246 LCMT2 skos:exactMatch hgnc:LCMT2 semapv:UnspecifiedMatching +OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:17558 semapv:UnspecifiedMatching +OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:LCMT2 semapv:UnspecifiedMatching OMIM:611246 LCMT2 skos:exactMatch ncbigene:9836 semapv:UnspecifiedMatching -OMIM:611248 KLHDC3 skos:exactMatch hgnc:KLHDC3 semapv:UnspecifiedMatching +OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:20704 semapv:UnspecifiedMatching +OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:KLHDC3 semapv:UnspecifiedMatching OMIM:611248 KLHDC3 skos:exactMatch ncbigene:116138 semapv:UnspecifiedMatching -OMIM:611249 MIRLET7B skos:exactMatch hgnc:MIRLET7B semapv:UnspecifiedMatching +OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:31479 semapv:UnspecifiedMatching +OMIM:611249 MIRLET7B skos:exactMatch hgnc.symbol:MIRLET7B semapv:UnspecifiedMatching OMIM:611249 MIRLET7B skos:exactMatch ncbigene:406884 semapv:UnspecifiedMatching -OMIM:611250 MIRLET7E skos:exactMatch hgnc:MIRLET7E semapv:UnspecifiedMatching +OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:31482 semapv:UnspecifiedMatching +OMIM:611250 MIRLET7E skos:exactMatch hgnc.symbol:MIRLET7E semapv:UnspecifiedMatching OMIM:611250 MIRLET7E skos:exactMatch ncbigene:406887 semapv:UnspecifiedMatching OMIM:611251 DISP3 skos:exactMatch UMLS:C1826733 semapv:UnspecifiedMatching -OMIM:611251 DISP3 skos:exactMatch hgnc:DISP3 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:29251 semapv:UnspecifiedMatching +OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:DISP3 semapv:UnspecifiedMatching OMIM:611251 DISP3 skos:exactMatch ncbigene:57540 semapv:UnspecifiedMatching -OMIM:611253 KIF27 skos:exactMatch hgnc:KIF27 semapv:UnspecifiedMatching +OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:18632 semapv:UnspecifiedMatching +OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:KIF27 semapv:UnspecifiedMatching OMIM:611253 KIF27 skos:exactMatch ncbigene:55582 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C0796147 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C1537482 semapv:UnspecifiedMatching @@ -30285,865 +42212,1252 @@ OMIM:611254 KIF7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C3277723 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C3279899 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch UMLS:C3280899 semapv:UnspecifiedMatching -OMIM:611254 KIF7 skos:exactMatch hgnc:KIF7 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:30497 semapv:UnspecifiedMatching +OMIM:611254 KIF7 skos:exactMatch hgnc.symbol:KIF7 semapv:UnspecifiedMatching OMIM:611254 KIF7 skos:exactMatch ncbigene:374654 semapv:UnspecifiedMatching -OMIM:611255 NOXA1 skos:exactMatch hgnc:NOXA1 semapv:UnspecifiedMatching +OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:10668 semapv:UnspecifiedMatching +OMIM:611255 NOXA1 skos:exactMatch hgnc.symbol:NOXA1 semapv:UnspecifiedMatching OMIM:611255 NOXA1 skos:exactMatch ncbigene:10811 semapv:UnspecifiedMatching -OMIM:611256 NOXO1 skos:exactMatch hgnc:NOXO1 semapv:UnspecifiedMatching +OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:19404 semapv:UnspecifiedMatching +OMIM:611256 NOXO1 skos:exactMatch hgnc.symbol:NOXO1 semapv:UnspecifiedMatching OMIM:611256 NOXO1 skos:exactMatch ncbigene:124056 semapv:UnspecifiedMatching -OMIM:611257 TMEM132D skos:exactMatch hgnc:TMEM132D semapv:UnspecifiedMatching +OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:29411 semapv:UnspecifiedMatching +OMIM:611257 TMEM132D skos:exactMatch hgnc.symbol:TMEM132D semapv:UnspecifiedMatching OMIM:611257 TMEM132D skos:exactMatch ncbigene:121256 semapv:UnspecifiedMatching -OMIM:611258 TDRD7 skos:exactMatch hgnc:TDRD7 semapv:UnspecifiedMatching +OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:30831 semapv:UnspecifiedMatching +OMIM:611258 TDRD7 skos:exactMatch hgnc.symbol:TDRD7 semapv:UnspecifiedMatching OMIM:611258 TDRD7 skos:exactMatch ncbigene:23424 semapv:UnspecifiedMatching -OMIM:611259 CDKAL1 skos:exactMatch hgnc:CDKAL1 semapv:UnspecifiedMatching +OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:21050 semapv:UnspecifiedMatching +OMIM:611259 CDKAL1 skos:exactMatch hgnc.symbol:CDKAL1 semapv:UnspecifiedMatching OMIM:611259 CDKAL1 skos:exactMatch ncbigene:54901 semapv:UnspecifiedMatching -OMIM:611260 THNSL1 skos:exactMatch hgnc:THNSL1 semapv:UnspecifiedMatching +OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:26160 semapv:UnspecifiedMatching +OMIM:611260 THNSL1 skos:exactMatch hgnc.symbol:THNSL1 semapv:UnspecifiedMatching OMIM:611260 THNSL1 skos:exactMatch ncbigene:79896 semapv:UnspecifiedMatching -OMIM:611261 THNSL2 skos:exactMatch hgnc:THNSL2 semapv:UnspecifiedMatching +OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:25602 semapv:UnspecifiedMatching +OMIM:611261 THNSL2 skos:exactMatch hgnc.symbol:THNSL2 semapv:UnspecifiedMatching OMIM:611261 THNSL2 skos:exactMatch ncbigene:55258 semapv:UnspecifiedMatching -OMIM:611262 DOHH skos:exactMatch hgnc:DOHH semapv:UnspecifiedMatching +OMIM:611262 DOHH skos:exactMatch hgnc.symbol:28662 semapv:UnspecifiedMatching +OMIM:611262 DOHH skos:exactMatch hgnc.symbol:DOHH semapv:UnspecifiedMatching OMIM:611262 DOHH skos:exactMatch ncbigene:83475 semapv:UnspecifiedMatching +OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch Orphanet:474 semapv:UnspecifiedMatching OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch UMLS:C1970005 semapv:UnspecifiedMatching -OMIM:611263 short-rib thoracic dysplasia 2 with or without polydactyly skos:exactMatch orphanet.ordo:474 semapv:UnspecifiedMatching -OMIM:611264 CENPW skos:exactMatch hgnc:CENPW semapv:UnspecifiedMatching +OMIM:611264 CENPW skos:exactMatch hgnc.symbol:21488 semapv:UnspecifiedMatching +OMIM:611264 CENPW skos:exactMatch hgnc.symbol:CENPW semapv:UnspecifiedMatching OMIM:611264 CENPW skos:exactMatch ncbigene:387103 semapv:UnspecifiedMatching -OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc:HELZ2 semapv:UnspecifiedMatching +OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:30021 semapv:UnspecifiedMatching +OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch hgnc.symbol:HELZ2 semapv:UnspecifiedMatching OMIM:611265 peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285-kd subunit skos:exactMatch ncbigene:85441 semapv:UnspecifiedMatching -OMIM:611266 POTEKP skos:exactMatch hgnc:POTEKP semapv:UnspecifiedMatching +OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:30182 semapv:UnspecifiedMatching +OMIM:611266 POTEKP skos:exactMatch hgnc.symbol:POTEKP semapv:UnspecifiedMatching OMIM:611266 POTEKP skos:exactMatch ncbigene:440915 semapv:UnspecifiedMatching -OMIM:611267 OR51E1 skos:exactMatch hgnc:OR51E1 semapv:UnspecifiedMatching +OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:15194 semapv:UnspecifiedMatching +OMIM:611267 OR51E1 skos:exactMatch hgnc.symbol:OR51E1 semapv:UnspecifiedMatching OMIM:611267 OR51E1 skos:exactMatch ncbigene:143503 semapv:UnspecifiedMatching -OMIM:611268 OR51E2 skos:exactMatch hgnc:OR51E2 semapv:UnspecifiedMatching +OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:15195 semapv:UnspecifiedMatching +OMIM:611268 OR51E2 skos:exactMatch hgnc.symbol:OR51E2 semapv:UnspecifiedMatching OMIM:611268 OR51E2 skos:exactMatch ncbigene:81285 semapv:UnspecifiedMatching -OMIM:611269 NOM1 skos:exactMatch hgnc:NOM1 semapv:UnspecifiedMatching +OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:13244 semapv:UnspecifiedMatching +OMIM:611269 NOM1 skos:exactMatch hgnc.symbol:NOM1 semapv:UnspecifiedMatching OMIM:611269 NOM1 skos:exactMatch ncbigene:64434 semapv:UnspecifiedMatching OMIM:611270 NAPB skos:exactMatch UMLS:C1423703 semapv:UnspecifiedMatching OMIM:611270 NAPB skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611270 NAPB skos:exactMatch hgnc:NAPB semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch hgnc.symbol:15751 semapv:UnspecifiedMatching +OMIM:611270 NAPB skos:exactMatch hgnc.symbol:NAPB semapv:UnspecifiedMatching OMIM:611270 NAPB skos:exactMatch ncbigene:63908 semapv:UnspecifiedMatching -OMIM:611271 KIF18A skos:exactMatch hgnc:KIF18A semapv:UnspecifiedMatching +OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:29441 semapv:UnspecifiedMatching +OMIM:611271 KIF18A skos:exactMatch hgnc.symbol:KIF18A semapv:UnspecifiedMatching OMIM:611271 KIF18A skos:exactMatch ncbigene:81930 semapv:UnspecifiedMatching -OMIM:611272 ZKSCAN5 skos:exactMatch hgnc:ZKSCAN5 semapv:UnspecifiedMatching +OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:12867 semapv:UnspecifiedMatching +OMIM:611272 ZKSCAN5 skos:exactMatch hgnc.symbol:ZKSCAN5 semapv:UnspecifiedMatching OMIM:611272 ZKSCAN5 skos:exactMatch ncbigene:23660 semapv:UnspecifiedMatching OMIM:611273 SKOR1 skos:exactMatch UMLS:C1825797 semapv:UnspecifiedMatching -OMIM:611273 SKOR1 skos:exactMatch hgnc:SKOR1 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:21326 semapv:UnspecifiedMatching +OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:SKOR1 semapv:UnspecifiedMatching OMIM:611273 SKOR1 skos:exactMatch ncbigene:390598 semapv:UnspecifiedMatching -OMIM:611275 BNIPL skos:exactMatch hgnc:BNIPL semapv:UnspecifiedMatching +OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:16976 semapv:UnspecifiedMatching +OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:BNIPL semapv:UnspecifiedMatching OMIM:611275 BNIPL skos:exactMatch ncbigene:149428 semapv:UnspecifiedMatching -OMIM:611278 KIF12 skos:exactMatch hgnc:KIF12 semapv:UnspecifiedMatching +OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:21495 semapv:UnspecifiedMatching +OMIM:611278 KIF12 skos:exactMatch hgnc.symbol:KIF12 semapv:UnspecifiedMatching OMIM:611278 KIF12 skos:exactMatch ncbigene:113220 semapv:UnspecifiedMatching -OMIM:611279 KIF14 skos:exactMatch hgnc:KIF14 semapv:UnspecifiedMatching +OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:19181 semapv:UnspecifiedMatching +OMIM:611279 KIF14 skos:exactMatch hgnc.symbol:KIF14 semapv:UnspecifiedMatching OMIM:611279 KIF14 skos:exactMatch ncbigene:9928 semapv:UnspecifiedMatching -OMIM:611280 KLHDC2 skos:exactMatch hgnc:KLHDC2 semapv:UnspecifiedMatching +OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:20231 semapv:UnspecifiedMatching +OMIM:611280 KLHDC2 skos:exactMatch hgnc.symbol:KLHDC2 semapv:UnspecifiedMatching OMIM:611280 KLHDC2 skos:exactMatch ncbigene:23588 semapv:UnspecifiedMatching -OMIM:611281 KLHDC1 skos:exactMatch hgnc:KLHDC1 semapv:UnspecifiedMatching +OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:19836 semapv:UnspecifiedMatching +OMIM:611281 KLHDC1 skos:exactMatch hgnc.symbol:KLHDC1 semapv:UnspecifiedMatching OMIM:611281 KLHDC1 skos:exactMatch ncbigene:122773 semapv:UnspecifiedMatching -OMIM:611282 DNMBP skos:exactMatch hgnc:DNMBP semapv:UnspecifiedMatching +OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:30373 semapv:UnspecifiedMatching +OMIM:611282 DNMBP skos:exactMatch hgnc.symbol:DNMBP semapv:UnspecifiedMatching OMIM:611282 DNMBP skos:exactMatch ncbigene:23268 semapv:UnspecifiedMatching -OMIM:611285 KCTD5 skos:exactMatch hgnc:KCTD5 semapv:UnspecifiedMatching +OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:21423 semapv:UnspecifiedMatching +OMIM:611285 KCTD5 skos:exactMatch hgnc.symbol:KCTD5 semapv:UnspecifiedMatching OMIM:611285 KCTD5 skos:exactMatch ncbigene:54442 semapv:UnspecifiedMatching -OMIM:611286 RTCD1 skos:exactMatch hgnc:RTCA semapv:UnspecifiedMatching +OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:17981 semapv:UnspecifiedMatching +OMIM:611286 RTCD1 skos:exactMatch hgnc.symbol:RTCA semapv:UnspecifiedMatching OMIM:611286 RTCD1 skos:exactMatch ncbigene:8634 semapv:UnspecifiedMatching OMIM:611287 CNIH1 skos:exactMatch UMLS:C1426240 semapv:UnspecifiedMatching -OMIM:611287 CNIH1 skos:exactMatch hgnc:CNIH1 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:19431 semapv:UnspecifiedMatching +OMIM:611287 CNIH1 skos:exactMatch hgnc.symbol:CNIH1 semapv:UnspecifiedMatching OMIM:611287 CNIH1 skos:exactMatch ncbigene:10175 semapv:UnspecifiedMatching OMIM:611288 CNIH2 skos:exactMatch UMLS:C1539112 semapv:UnspecifiedMatching -OMIM:611288 CNIH2 skos:exactMatch hgnc:CNIH2 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:28744 semapv:UnspecifiedMatching +OMIM:611288 CNIH2 skos:exactMatch hgnc.symbol:CNIH2 semapv:UnspecifiedMatching OMIM:611288 CNIH2 skos:exactMatch ncbigene:254263 semapv:UnspecifiedMatching -OMIM:611289 LRG1 skos:exactMatch hgnc:LRG1 semapv:UnspecifiedMatching +OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:29480 semapv:UnspecifiedMatching +OMIM:611289 LRG1 skos:exactMatch hgnc.symbol:LRG1 semapv:UnspecifiedMatching OMIM:611289 LRG1 skos:exactMatch ncbigene:116844 semapv:UnspecifiedMatching -OMIM:611290 NHEJ1 skos:exactMatch hgnc:NHEJ1 semapv:UnspecifiedMatching +OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:25737 semapv:UnspecifiedMatching +OMIM:611290 NHEJ1 skos:exactMatch hgnc.symbol:NHEJ1 semapv:UnspecifiedMatching OMIM:611290 NHEJ1 skos:exactMatch ncbigene:79840 semapv:UnspecifiedMatching -OMIM:611292 CLVS1 skos:exactMatch hgnc:CLVS1 semapv:UnspecifiedMatching +OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:23139 semapv:UnspecifiedMatching +OMIM:611292 CLVS1 skos:exactMatch hgnc.symbol:CLVS1 semapv:UnspecifiedMatching OMIM:611292 CLVS1 skos:exactMatch ncbigene:157807 semapv:UnspecifiedMatching -OMIM:611293 CCDC86 skos:exactMatch hgnc:CCDC86 semapv:UnspecifiedMatching +OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:28359 semapv:UnspecifiedMatching +OMIM:611293 CCDC86 skos:exactMatch hgnc.symbol:CCDC86 semapv:UnspecifiedMatching OMIM:611293 CCDC86 skos:exactMatch ncbigene:79080 semapv:UnspecifiedMatching -OMIM:611294 ONECUT3 skos:exactMatch hgnc:ONECUT3 semapv:UnspecifiedMatching +OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:13399 semapv:UnspecifiedMatching +OMIM:611294 ONECUT3 skos:exactMatch hgnc.symbol:ONECUT3 semapv:UnspecifiedMatching OMIM:611294 ONECUT3 skos:exactMatch ncbigene:390874 semapv:UnspecifiedMatching -OMIM:611295 KLHL24 skos:exactMatch hgnc:KLHL24 semapv:UnspecifiedMatching +OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:25947 semapv:UnspecifiedMatching +OMIM:611295 KLHL24 skos:exactMatch hgnc.symbol:KLHL24 semapv:UnspecifiedMatching OMIM:611295 KLHL24 skos:exactMatch ncbigene:54800 semapv:UnspecifiedMatching -OMIM:611296 ANXA2R skos:exactMatch hgnc:ANXA2R semapv:UnspecifiedMatching +OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:33463 semapv:UnspecifiedMatching +OMIM:611296 ANXA2R skos:exactMatch hgnc.symbol:ANXA2R semapv:UnspecifiedMatching OMIM:611296 ANXA2R skos:exactMatch ncbigene:389289 semapv:UnspecifiedMatching -OMIM:611297 OSR2 skos:exactMatch hgnc:OSR2 semapv:UnspecifiedMatching +OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:15830 semapv:UnspecifiedMatching +OMIM:611297 OSR2 skos:exactMatch hgnc.symbol:OSR2 semapv:UnspecifiedMatching OMIM:611297 OSR2 skos:exactMatch ncbigene:116039 semapv:UnspecifiedMatching -OMIM:611298 ELAPOR1 skos:exactMatch hgnc:ELAPOR1 semapv:UnspecifiedMatching +OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:29618 semapv:UnspecifiedMatching +OMIM:611298 ELAPOR1 skos:exactMatch hgnc.symbol:ELAPOR1 semapv:UnspecifiedMatching OMIM:611298 ELAPOR1 skos:exactMatch ncbigene:57535 semapv:UnspecifiedMatching -OMIM:611299 G2E3 skos:exactMatch hgnc:G2E3 semapv:UnspecifiedMatching +OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:20338 semapv:UnspecifiedMatching +OMIM:611299 G2E3 skos:exactMatch hgnc.symbol:G2E3 semapv:UnspecifiedMatching OMIM:611299 G2E3 skos:exactMatch ncbigene:55632 semapv:UnspecifiedMatching -OMIM:611300 LARP6 skos:exactMatch hgnc:LARP6 semapv:UnspecifiedMatching +OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:24012 semapv:UnspecifiedMatching +OMIM:611300 LARP6 skos:exactMatch hgnc.symbol:LARP6 semapv:UnspecifiedMatching OMIM:611300 LARP6 skos:exactMatch ncbigene:55323 semapv:UnspecifiedMatching -OMIM:611301 FAAP100 skos:exactMatch hgnc:FAAP100 semapv:UnspecifiedMatching +OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:26171 semapv:UnspecifiedMatching +OMIM:611301 FAAP100 skos:exactMatch hgnc.symbol:FAAP100 semapv:UnspecifiedMatching OMIM:611301 FAAP100 skos:exactMatch ncbigene:80233 semapv:UnspecifiedMatching OMIM:611303 CLEC16A skos:exactMatch UMLS:C1825657 semapv:UnspecifiedMatching -OMIM:611303 CLEC16A skos:exactMatch hgnc:CLEC16A semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:29013 semapv:UnspecifiedMatching +OMIM:611303 CLEC16A skos:exactMatch hgnc.symbol:CLEC16A semapv:UnspecifiedMatching OMIM:611303 CLEC16A skos:exactMatch ncbigene:23274 semapv:UnspecifiedMatching -OMIM:611304 TMEM159 skos:exactMatch hgnc:LDAF1 semapv:UnspecifiedMatching +OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:30136 semapv:UnspecifiedMatching +OMIM:611304 TMEM159 skos:exactMatch hgnc.symbol:LDAF1 semapv:UnspecifiedMatching OMIM:611304 TMEM159 skos:exactMatch ncbigene:57146 semapv:UnspecifiedMatching -OMIM:611305 ABLIM3 skos:exactMatch hgnc:ABLIM3 semapv:UnspecifiedMatching +OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:29132 semapv:UnspecifiedMatching +OMIM:611305 ABLIM3 skos:exactMatch hgnc.symbol:ABLIM3 semapv:UnspecifiedMatching OMIM:611305 ABLIM3 skos:exactMatch ncbigene:22885 semapv:UnspecifiedMatching -OMIM:611306 SCARA5 skos:exactMatch hgnc:SCARA5 semapv:UnspecifiedMatching +OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:28701 semapv:UnspecifiedMatching +OMIM:611306 SCARA5 skos:exactMatch hgnc.symbol:SCARA5 semapv:UnspecifiedMatching OMIM:611306 SCARA5 skos:exactMatch ncbigene:286133 semapv:UnspecifiedMatching +OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch Orphanet:206549 semapv:UnspecifiedMatching OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch UMLS:C1969785 semapv:UnspecifiedMatching -OMIM:611307 muscular dystrophy, limb-girdle, autosomal recessive 12 skos:exactMatch orphanet.ordo:206549 semapv:UnspecifiedMatching OMIM:611309 DEPP1 skos:exactMatch UMLS:C1428046 semapv:UnspecifiedMatching -OMIM:611309 DEPP1 skos:exactMatch hgnc:DEPP1 semapv:UnspecifiedMatching +OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:23355 semapv:UnspecifiedMatching +OMIM:611309 DEPP1 skos:exactMatch hgnc.symbol:DEPP1 semapv:UnspecifiedMatching OMIM:611309 DEPP1 skos:exactMatch ncbigene:11067 semapv:UnspecifiedMatching -OMIM:611310 PSTK skos:exactMatch hgnc:PSTK semapv:UnspecifiedMatching +OMIM:611310 PSTK skos:exactMatch hgnc.symbol:28578 semapv:UnspecifiedMatching +OMIM:611310 PSTK skos:exactMatch hgnc.symbol:PSTK semapv:UnspecifiedMatching OMIM:611310 PSTK skos:exactMatch ncbigene:118672 semapv:UnspecifiedMatching -OMIM:611312 CRNN skos:exactMatch hgnc:CRNN semapv:UnspecifiedMatching +OMIM:611312 CRNN skos:exactMatch hgnc.symbol:1230 semapv:UnspecifiedMatching +OMIM:611312 CRNN skos:exactMatch hgnc.symbol:CRNN semapv:UnspecifiedMatching OMIM:611312 CRNN skos:exactMatch ncbigene:49860 semapv:UnspecifiedMatching -OMIM:611313 ARMS2 skos:exactMatch hgnc:ARMS2 semapv:UnspecifiedMatching +OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:32685 semapv:UnspecifiedMatching +OMIM:611313 ARMS2 skos:exactMatch hgnc.symbol:ARMS2 semapv:UnspecifiedMatching OMIM:611313 ARMS2 skos:exactMatch ncbigene:387715 semapv:UnspecifiedMatching -OMIM:611314 HMGN2P46 skos:exactMatch hgnc:HMGN2P46 semapv:UnspecifiedMatching +OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:26817 semapv:UnspecifiedMatching +OMIM:611314 HMGN2P46 skos:exactMatch hgnc.symbol:HMGN2P46 semapv:UnspecifiedMatching OMIM:611314 HMGN2P46 skos:exactMatch ncbigene:283651 semapv:UnspecifiedMatching -OMIM:611315 ZSCAN20 skos:exactMatch hgnc:ZSCAN20 semapv:UnspecifiedMatching +OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:13093 semapv:UnspecifiedMatching +OMIM:611315 ZSCAN20 skos:exactMatch hgnc.symbol:ZSCAN20 semapv:UnspecifiedMatching OMIM:611315 ZSCAN20 skos:exactMatch ncbigene:7579 semapv:UnspecifiedMatching -OMIM:611316 SLC12A8 skos:exactMatch hgnc:SLC12A8 semapv:UnspecifiedMatching +OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:15595 semapv:UnspecifiedMatching +OMIM:611316 SLC12A8 skos:exactMatch hgnc.symbol:SLC12A8 semapv:UnspecifiedMatching OMIM:611316 SLC12A8 skos:exactMatch ncbigene:84561 semapv:UnspecifiedMatching -OMIM:611317 PIK3R5 skos:exactMatch hgnc:PIK3R5 semapv:UnspecifiedMatching +OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:30035 semapv:UnspecifiedMatching +OMIM:611317 PIK3R5 skos:exactMatch hgnc.symbol:PIK3R5 semapv:UnspecifiedMatching OMIM:611317 PIK3R5 skos:exactMatch ncbigene:23533 semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch UMLS:C1537678 semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching -OMIM:611318 MED12L skos:exactMatch hgnc:MED12L semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch hgnc.symbol:16050 semapv:UnspecifiedMatching +OMIM:611318 MED12L skos:exactMatch hgnc.symbol:MED12L semapv:UnspecifiedMatching OMIM:611318 MED12L skos:exactMatch ncbigene:116931 semapv:UnspecifiedMatching -OMIM:611319 IFI27L2 skos:exactMatch hgnc:IFI27L2 semapv:UnspecifiedMatching +OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:19753 semapv:UnspecifiedMatching +OMIM:611319 IFI27L2 skos:exactMatch hgnc.symbol:IFI27L2 semapv:UnspecifiedMatching OMIM:611319 IFI27L2 skos:exactMatch ncbigene:83982 semapv:UnspecifiedMatching -OMIM:611320 IFI27L1 skos:exactMatch hgnc:IFI27L1 semapv:UnspecifiedMatching +OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:19754 semapv:UnspecifiedMatching +OMIM:611320 IFI27L1 skos:exactMatch hgnc.symbol:IFI27L1 semapv:UnspecifiedMatching OMIM:611320 IFI27L1 skos:exactMatch ncbigene:122509 semapv:UnspecifiedMatching -OMIM:611321 CLSTN1 skos:exactMatch hgnc:CLSTN1 semapv:UnspecifiedMatching +OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:17447 semapv:UnspecifiedMatching +OMIM:611321 CLSTN1 skos:exactMatch hgnc.symbol:CLSTN1 semapv:UnspecifiedMatching OMIM:611321 CLSTN1 skos:exactMatch ncbigene:22883 semapv:UnspecifiedMatching -OMIM:611322 DNAJA2 skos:exactMatch hgnc:DNAJA2 semapv:UnspecifiedMatching +OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:14884 semapv:UnspecifiedMatching +OMIM:611322 DNAJA2 skos:exactMatch hgnc.symbol:DNAJA2 semapv:UnspecifiedMatching OMIM:611322 DNAJA2 skos:exactMatch ncbigene:10294 semapv:UnspecifiedMatching -OMIM:611323 CLSTN2 skos:exactMatch hgnc:CLSTN2 semapv:UnspecifiedMatching +OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:17448 semapv:UnspecifiedMatching +OMIM:611323 CLSTN2 skos:exactMatch hgnc.symbol:CLSTN2 semapv:UnspecifiedMatching OMIM:611323 CLSTN2 skos:exactMatch ncbigene:64084 semapv:UnspecifiedMatching -OMIM:611324 CLSTN3 skos:exactMatch hgnc:CLSTN3 semapv:UnspecifiedMatching +OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:18371 semapv:UnspecifiedMatching +OMIM:611324 CLSTN3 skos:exactMatch hgnc.symbol:CLSTN3 semapv:UnspecifiedMatching OMIM:611324 CLSTN3 skos:exactMatch ncbigene:9746 semapv:UnspecifiedMatching -OMIM:611325 TBRG4 skos:exactMatch hgnc:TBRG4 semapv:UnspecifiedMatching +OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:17443 semapv:UnspecifiedMatching +OMIM:611325 TBRG4 skos:exactMatch hgnc.symbol:TBRG4 semapv:UnspecifiedMatching OMIM:611325 TBRG4 skos:exactMatch ncbigene:9238 semapv:UnspecifiedMatching OMIM:611326 CCPG1 skos:exactMatch UMLS:C1539078 semapv:UnspecifiedMatching -OMIM:611326 CCPG1 skos:exactMatch hgnc:CCPG1 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:24227 semapv:UnspecifiedMatching +OMIM:611326 CCPG1 skos:exactMatch hgnc.symbol:CCPG1 semapv:UnspecifiedMatching OMIM:611326 CCPG1 skos:exactMatch ncbigene:9236 semapv:UnspecifiedMatching -OMIM:611327 DNAJB4 skos:exactMatch hgnc:DNAJB4 semapv:UnspecifiedMatching +OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:14886 semapv:UnspecifiedMatching +OMIM:611327 DNAJB4 skos:exactMatch hgnc.symbol:DNAJB4 semapv:UnspecifiedMatching OMIM:611327 DNAJB4 skos:exactMatch ncbigene:11080 semapv:UnspecifiedMatching -OMIM:611328 DNAJB5 skos:exactMatch hgnc:DNAJB5 semapv:UnspecifiedMatching +OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:14887 semapv:UnspecifiedMatching +OMIM:611328 DNAJB5 skos:exactMatch hgnc.symbol:DNAJB5 semapv:UnspecifiedMatching OMIM:611328 DNAJB5 skos:exactMatch ncbigene:25822 semapv:UnspecifiedMatching -OMIM:611329 SCARNA18 skos:exactMatch hgnc:SCARNA18 semapv:UnspecifiedMatching +OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:32559 semapv:UnspecifiedMatching +OMIM:611329 SCARNA18 skos:exactMatch hgnc.symbol:SCARNA18 semapv:UnspecifiedMatching OMIM:611329 SCARNA18 skos:exactMatch ncbigene:677765 semapv:UnspecifiedMatching -OMIM:611330 SNORA12 skos:exactMatch hgnc:SNORA12 semapv:UnspecifiedMatching +OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:32600 semapv:UnspecifiedMatching +OMIM:611330 SNORA12 skos:exactMatch hgnc.symbol:SNORA12 semapv:UnspecifiedMatching OMIM:611330 SNORA12 skos:exactMatch ncbigene:677800 semapv:UnspecifiedMatching -OMIM:611331 SNORA74B skos:exactMatch hgnc:SNORA74B semapv:UnspecifiedMatching +OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:32660 semapv:UnspecifiedMatching +OMIM:611331 SNORA74B skos:exactMatch hgnc.symbol:SNORA74B semapv:UnspecifiedMatching OMIM:611331 SNORA74B skos:exactMatch ncbigene:677841 semapv:UnspecifiedMatching -OMIM:611332 DNAJB6 skos:exactMatch hgnc:DNAJB6 semapv:UnspecifiedMatching +OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:14888 semapv:UnspecifiedMatching +OMIM:611332 DNAJB6 skos:exactMatch hgnc.symbol:DNAJB6 semapv:UnspecifiedMatching OMIM:611332 DNAJB6 skos:exactMatch ncbigene:10049 semapv:UnspecifiedMatching -OMIM:611333 SNORA3B skos:exactMatch hgnc:SNORA3B semapv:UnspecifiedMatching +OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:32638 semapv:UnspecifiedMatching +OMIM:611333 SNORA3B skos:exactMatch hgnc.symbol:SNORA3B semapv:UnspecifiedMatching OMIM:611333 SNORA3B skos:exactMatch ncbigene:677826 semapv:UnspecifiedMatching -OMIM:611334 SNORA81 skos:exactMatch hgnc:SNORA81 semapv:UnspecifiedMatching +OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:32667 semapv:UnspecifiedMatching +OMIM:611334 SNORA81 skos:exactMatch hgnc.symbol:SNORA81 semapv:UnspecifiedMatching OMIM:611334 SNORA81 skos:exactMatch ncbigene:677847 semapv:UnspecifiedMatching -OMIM:611335 SNORA5C skos:exactMatch hgnc:SNORA5C semapv:UnspecifiedMatching +OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:32590 semapv:UnspecifiedMatching +OMIM:611335 SNORA5C skos:exactMatch hgnc.symbol:SNORA5C semapv:UnspecifiedMatching OMIM:611335 SNORA5C skos:exactMatch ncbigene:677796 semapv:UnspecifiedMatching -OMIM:611336 DNAJB7 skos:exactMatch hgnc:DNAJB7 semapv:UnspecifiedMatching +OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:24986 semapv:UnspecifiedMatching +OMIM:611336 DNAJB7 skos:exactMatch hgnc.symbol:DNAJB7 semapv:UnspecifiedMatching OMIM:611336 DNAJB7 skos:exactMatch ncbigene:150353 semapv:UnspecifiedMatching -OMIM:611337 DNAJB8 skos:exactMatch hgnc:DNAJB8 semapv:UnspecifiedMatching +OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:23699 semapv:UnspecifiedMatching +OMIM:611337 DNAJB8 skos:exactMatch hgnc.symbol:DNAJB8 semapv:UnspecifiedMatching OMIM:611337 DNAJB8 skos:exactMatch ncbigene:165721 semapv:UnspecifiedMatching OMIM:611338 ATG4B skos:exactMatch UMLS:C1427125 semapv:UnspecifiedMatching -OMIM:611338 ATG4B skos:exactMatch hgnc:ATG4B semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:20790 semapv:UnspecifiedMatching +OMIM:611338 ATG4B skos:exactMatch hgnc.symbol:ATG4B semapv:UnspecifiedMatching OMIM:611338 ATG4B skos:exactMatch ncbigene:23192 semapv:UnspecifiedMatching OMIM:611339 ATG4C skos:exactMatch UMLS:C1825495 semapv:UnspecifiedMatching -OMIM:611339 ATG4C skos:exactMatch hgnc:ATG4C semapv:UnspecifiedMatching +OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:16040 semapv:UnspecifiedMatching +OMIM:611339 ATG4C skos:exactMatch hgnc.symbol:ATG4C semapv:UnspecifiedMatching OMIM:611339 ATG4C skos:exactMatch ncbigene:84938 semapv:UnspecifiedMatching OMIM:611340 ATG4D skos:exactMatch UMLS:C1825496 semapv:UnspecifiedMatching -OMIM:611340 ATG4D skos:exactMatch hgnc:ATG4D semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:20789 semapv:UnspecifiedMatching +OMIM:611340 ATG4D skos:exactMatch hgnc.symbol:ATG4D semapv:UnspecifiedMatching OMIM:611340 ATG4D skos:exactMatch ncbigene:84971 semapv:UnspecifiedMatching -OMIM:611341 DNAJB11 skos:exactMatch hgnc:DNAJB11 semapv:UnspecifiedMatching +OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:14889 semapv:UnspecifiedMatching +OMIM:611341 DNAJB11 skos:exactMatch hgnc.symbol:DNAJB11 semapv:UnspecifiedMatching OMIM:611341 DNAJB11 skos:exactMatch ncbigene:51726 semapv:UnspecifiedMatching -OMIM:611342 C9ORF64 skos:exactMatch hgnc:QNG1 semapv:UnspecifiedMatching +OMIM:611342 C9ORF64 skos:exactMatch hgnc.symbol:QNG1 semapv:UnspecifiedMatching OMIM:611342 C9ORF64 skos:exactMatch ncbigene:84267 semapv:UnspecifiedMatching -OMIM:611343 IDNK skos:exactMatch hgnc:IDNK semapv:UnspecifiedMatching +OMIM:611343 IDNK skos:exactMatch hgnc.symbol:31367 semapv:UnspecifiedMatching +OMIM:611343 IDNK skos:exactMatch hgnc.symbol:IDNK semapv:UnspecifiedMatching OMIM:611343 IDNK skos:exactMatch ncbigene:414328 semapv:UnspecifiedMatching -OMIM:611344 RASEF skos:exactMatch hgnc:RASEF semapv:UnspecifiedMatching +OMIM:611344 RASEF skos:exactMatch hgnc.symbol:26464 semapv:UnspecifiedMatching +OMIM:611344 RASEF skos:exactMatch hgnc.symbol:RASEF semapv:UnspecifiedMatching OMIM:611344 RASEF skos:exactMatch ncbigene:158158 semapv:UnspecifiedMatching OMIM:611345 INTS1 skos:exactMatch UMLS:C1825603 semapv:UnspecifiedMatching OMIM:611345 INTS1 skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching -OMIM:611345 INTS1 skos:exactMatch hgnc:INTS1 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:24555 semapv:UnspecifiedMatching +OMIM:611345 INTS1 skos:exactMatch hgnc.symbol:INTS1 semapv:UnspecifiedMatching OMIM:611345 INTS1 skos:exactMatch ncbigene:26173 semapv:UnspecifiedMatching -OMIM:611346 INTS2 skos:exactMatch hgnc:INTS2 semapv:UnspecifiedMatching +OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:29241 semapv:UnspecifiedMatching +OMIM:611346 INTS2 skos:exactMatch hgnc.symbol:INTS2 semapv:UnspecifiedMatching OMIM:611346 INTS2 skos:exactMatch ncbigene:57508 semapv:UnspecifiedMatching -OMIM:611347 INTS3 skos:exactMatch hgnc:INTS3 semapv:UnspecifiedMatching +OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:26153 semapv:UnspecifiedMatching +OMIM:611347 INTS3 skos:exactMatch hgnc.symbol:INTS3 semapv:UnspecifiedMatching OMIM:611347 INTS3 skos:exactMatch ncbigene:65123 semapv:UnspecifiedMatching -OMIM:611348 INTS4 skos:exactMatch hgnc:INTS4 semapv:UnspecifiedMatching +OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:25048 semapv:UnspecifiedMatching +OMIM:611348 INTS4 skos:exactMatch hgnc.symbol:INTS4 semapv:UnspecifiedMatching OMIM:611348 INTS4 skos:exactMatch ncbigene:92105 semapv:UnspecifiedMatching -OMIM:611349 INTS5 skos:exactMatch hgnc:INTS5 semapv:UnspecifiedMatching +OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:29352 semapv:UnspecifiedMatching +OMIM:611349 INTS5 skos:exactMatch hgnc.symbol:INTS5 semapv:UnspecifiedMatching OMIM:611349 INTS5 skos:exactMatch ncbigene:80789 semapv:UnspecifiedMatching -OMIM:611350 INTS7 skos:exactMatch hgnc:INTS7 semapv:UnspecifiedMatching +OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:24484 semapv:UnspecifiedMatching +OMIM:611350 INTS7 skos:exactMatch hgnc.symbol:INTS7 semapv:UnspecifiedMatching OMIM:611350 INTS7 skos:exactMatch ncbigene:25896 semapv:UnspecifiedMatching -OMIM:611351 INTS8 skos:exactMatch hgnc:INTS8 semapv:UnspecifiedMatching +OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:26048 semapv:UnspecifiedMatching +OMIM:611351 INTS8 skos:exactMatch hgnc.symbol:INTS8 semapv:UnspecifiedMatching OMIM:611351 INTS8 skos:exactMatch ncbigene:55656 semapv:UnspecifiedMatching -OMIM:611352 INTS9 skos:exactMatch hgnc:INTS9 semapv:UnspecifiedMatching +OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:25592 semapv:UnspecifiedMatching +OMIM:611352 INTS9 skos:exactMatch hgnc.symbol:INTS9 semapv:UnspecifiedMatching OMIM:611352 INTS9 skos:exactMatch ncbigene:55756 semapv:UnspecifiedMatching -OMIM:611353 INTS10 skos:exactMatch hgnc:INTS10 semapv:UnspecifiedMatching +OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:25548 semapv:UnspecifiedMatching +OMIM:611353 INTS10 skos:exactMatch hgnc.symbol:INTS10 semapv:UnspecifiedMatching OMIM:611353 INTS10 skos:exactMatch ncbigene:55174 semapv:UnspecifiedMatching -OMIM:611354 INTS11 skos:exactMatch hgnc:INTS11 semapv:UnspecifiedMatching +OMIM:611354 INTS11 skos:exactMatch hgnc.symbol:26052 semapv:UnspecifiedMatching +OMIM:611354 INTS11 skos:exactMatch hgnc.symbol:INTS11 semapv:UnspecifiedMatching OMIM:611354 INTS11 skos:exactMatch ncbigene:54973 semapv:UnspecifiedMatching -OMIM:611355 INTS12 skos:exactMatch hgnc:INTS12 semapv:UnspecifiedMatching +OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:25067 semapv:UnspecifiedMatching +OMIM:611355 INTS12 skos:exactMatch hgnc.symbol:INTS12 semapv:UnspecifiedMatching OMIM:611355 INTS12 skos:exactMatch ncbigene:57117 semapv:UnspecifiedMatching -OMIM:611356 GKAP1 skos:exactMatch hgnc:GKAP1 semapv:UnspecifiedMatching +OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:17496 semapv:UnspecifiedMatching +OMIM:611356 GKAP1 skos:exactMatch hgnc.symbol:GKAP1 semapv:UnspecifiedMatching OMIM:611356 GKAP1 skos:exactMatch ncbigene:80318 semapv:UnspecifiedMatching -OMIM:611357 TENT5A skos:exactMatch hgnc:TENT5A semapv:UnspecifiedMatching +OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:18345 semapv:UnspecifiedMatching +OMIM:611357 TENT5A skos:exactMatch hgnc.symbol:TENT5A semapv:UnspecifiedMatching OMIM:611357 TENT5A skos:exactMatch ncbigene:55603 semapv:UnspecifiedMatching -OMIM:611358 RNF135 skos:exactMatch hgnc:RNF135 semapv:UnspecifiedMatching +OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:21158 semapv:UnspecifiedMatching +OMIM:611358 RNF135 skos:exactMatch hgnc.symbol:RNF135 semapv:UnspecifiedMatching OMIM:611358 RNF135 skos:exactMatch ncbigene:84282 semapv:UnspecifiedMatching -OMIM:611359 AMBRA1 skos:exactMatch hgnc:AMBRA1 semapv:UnspecifiedMatching +OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:25990 semapv:UnspecifiedMatching +OMIM:611359 AMBRA1 skos:exactMatch hgnc.symbol:AMBRA1 semapv:UnspecifiedMatching OMIM:611359 AMBRA1 skos:exactMatch ncbigene:55626 semapv:UnspecifiedMatching OMIM:611360 FANCI skos:exactMatch UMLS:C1825278 semapv:UnspecifiedMatching OMIM:611360 FANCI skos:exactMatch UMLS:C1836861 semapv:UnspecifiedMatching -OMIM:611360 FANCI skos:exactMatch hgnc:FANCI semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch hgnc.symbol:25568 semapv:UnspecifiedMatching +OMIM:611360 FANCI skos:exactMatch hgnc.symbol:FANCI semapv:UnspecifiedMatching OMIM:611360 FANCI skos:exactMatch ncbigene:55215 semapv:UnspecifiedMatching -OMIM:611361 UBA6 skos:exactMatch hgnc:UBA6 semapv:UnspecifiedMatching +OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:25581 semapv:UnspecifiedMatching +OMIM:611361 UBA6 skos:exactMatch hgnc.symbol:UBA6 semapv:UnspecifiedMatching OMIM:611361 UBA6 skos:exactMatch ncbigene:55236 semapv:UnspecifiedMatching -OMIM:611362 UBE2Z skos:exactMatch hgnc:UBE2Z semapv:UnspecifiedMatching +OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:25847 semapv:UnspecifiedMatching +OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:UBE2Z semapv:UnspecifiedMatching OMIM:611362 UBE2Z skos:exactMatch ncbigene:65264 semapv:UnspecifiedMatching -OMIM:611365 TMEM183B skos:exactMatch hgnc:TMEM183BP semapv:UnspecifiedMatching +OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:33205 semapv:UnspecifiedMatching +OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:TMEM183BP semapv:UnspecifiedMatching OMIM:611365 TMEM183B skos:exactMatch ncbigene:653659 semapv:UnspecifiedMatching OMIM:611366 MYG1 skos:exactMatch UMLS:C1425007 semapv:UnspecifiedMatching -OMIM:611366 MYG1 skos:exactMatch hgnc:MYG1 semapv:UnspecifiedMatching +OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:17590 semapv:UnspecifiedMatching +OMIM:611366 MYG1 skos:exactMatch hgnc.symbol:MYG1 semapv:UnspecifiedMatching OMIM:611366 MYG1 skos:exactMatch ncbigene:60314 semapv:UnspecifiedMatching -OMIM:611367 DNPEP skos:exactMatch hgnc:DNPEP semapv:UnspecifiedMatching +OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:2981 semapv:UnspecifiedMatching +OMIM:611367 DNPEP skos:exactMatch hgnc.symbol:DNPEP semapv:UnspecifiedMatching OMIM:611367 DNPEP skos:exactMatch ncbigene:23549 semapv:UnspecifiedMatching OMIM:611368 MAEL skos:exactMatch UMLS:C1825933 semapv:UnspecifiedMatching -OMIM:611368 MAEL skos:exactMatch hgnc:MAEL semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch hgnc.symbol:25929 semapv:UnspecifiedMatching +OMIM:611368 MAEL skos:exactMatch hgnc.symbol:MAEL semapv:UnspecifiedMatching OMIM:611368 MAEL skos:exactMatch ncbigene:84944 semapv:UnspecifiedMatching -OMIM:611370 FGGY skos:exactMatch hgnc:FGGY semapv:UnspecifiedMatching +OMIM:611370 FGGY skos:exactMatch hgnc.symbol:25610 semapv:UnspecifiedMatching +OMIM:611370 FGGY skos:exactMatch hgnc.symbol:FGGY semapv:UnspecifiedMatching OMIM:611370 FGGY skos:exactMatch ncbigene:55277 semapv:UnspecifiedMatching -OMIM:611371 ZNF653 skos:exactMatch hgnc:ZNF653 semapv:UnspecifiedMatching +OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:25196 semapv:UnspecifiedMatching +OMIM:611371 ZNF653 skos:exactMatch hgnc.symbol:ZNF653 semapv:UnspecifiedMatching OMIM:611371 ZNF653 skos:exactMatch ncbigene:115950 semapv:UnspecifiedMatching -OMIM:611372 SMAP1 skos:exactMatch hgnc:SMAP1 semapv:UnspecifiedMatching +OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:19651 semapv:UnspecifiedMatching +OMIM:611372 SMAP1 skos:exactMatch hgnc.symbol:SMAP1 semapv:UnspecifiedMatching OMIM:611372 SMAP1 skos:exactMatch ncbigene:60682 semapv:UnspecifiedMatching OMIM:611373 LEAP2 skos:exactMatch UMLS:C1825807 semapv:UnspecifiedMatching -OMIM:611373 LEAP2 skos:exactMatch hgnc:LEAP2 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:29571 semapv:UnspecifiedMatching +OMIM:611373 LEAP2 skos:exactMatch hgnc.symbol:LEAP2 semapv:UnspecifiedMatching OMIM:611373 LEAP2 skos:exactMatch ncbigene:116842 semapv:UnspecifiedMatching -OMIM:611374 MIR34B skos:exactMatch hgnc:MIR34B semapv:UnspecifiedMatching +OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:31636 semapv:UnspecifiedMatching +OMIM:611374 MIR34B skos:exactMatch hgnc.symbol:MIR34B semapv:UnspecifiedMatching OMIM:611374 MIR34B skos:exactMatch ncbigene:407041 semapv:UnspecifiedMatching -OMIM:611375 MIR34C skos:exactMatch hgnc:MIR34C semapv:UnspecifiedMatching +OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:31637 semapv:UnspecifiedMatching +OMIM:611375 MIR34C skos:exactMatch hgnc.symbol:MIR34C semapv:UnspecifiedMatching OMIM:611375 MIR34C skos:exactMatch ncbigene:407042 semapv:UnspecifiedMatching +OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:140908 semapv:UnspecifiedMatching +OMIM:611377 brachydactyly, iia b2 skos:exactMatch Orphanet:93383 semapv:UnspecifiedMatching OMIM:611377 brachydactyly, iia b2 skos:exactMatch UMLS:C1969652 semapv:UnspecifiedMatching -OMIM:611377 brachydactyly, iia b2 skos:exactMatch orphanet.ordo:140908 semapv:UnspecifiedMatching -OMIM:611377 brachydactyly, iia b2 skos:exactMatch orphanet.ordo:93383 semapv:UnspecifiedMatching -OMIM:611379 DIP2B skos:exactMatch hgnc:DIP2B semapv:UnspecifiedMatching +OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:29284 semapv:UnspecifiedMatching +OMIM:611379 DIP2B skos:exactMatch hgnc.symbol:DIP2B semapv:UnspecifiedMatching OMIM:611379 DIP2B skos:exactMatch ncbigene:57609 semapv:UnspecifiedMatching -OMIM:611380 DIP2C skos:exactMatch hgnc:DIP2C semapv:UnspecifiedMatching +OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:29150 semapv:UnspecifiedMatching +OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:DIP2C semapv:UnspecifiedMatching OMIM:611380 DIP2C skos:exactMatch ncbigene:22982 semapv:UnspecifiedMatching -OMIM:611386 ADNP skos:exactMatch hgnc:ADNP semapv:UnspecifiedMatching +OMIM:611386 ADNP skos:exactMatch hgnc.symbol:15766 semapv:UnspecifiedMatching +OMIM:611386 ADNP skos:exactMatch hgnc.symbol:ADNP semapv:UnspecifiedMatching OMIM:611386 ADNP skos:exactMatch ncbigene:23394 semapv:UnspecifiedMatching -OMIM:611387 CXCL17 skos:exactMatch hgnc:CXCL17 semapv:UnspecifiedMatching +OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:19232 semapv:UnspecifiedMatching +OMIM:611387 CXCL17 skos:exactMatch hgnc.symbol:CXCL17 semapv:UnspecifiedMatching OMIM:611387 CXCL17 skos:exactMatch ncbigene:284340 semapv:UnspecifiedMatching -OMIM:611388 DNTTIP1 skos:exactMatch hgnc:DNTTIP1 semapv:UnspecifiedMatching +OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:16160 semapv:UnspecifiedMatching +OMIM:611388 DNTTIP1 skos:exactMatch hgnc.symbol:DNTTIP1 semapv:UnspecifiedMatching OMIM:611388 DNTTIP1 skos:exactMatch ncbigene:116092 semapv:UnspecifiedMatching -OMIM:611389 PRICKLE4 skos:exactMatch hgnc:PRICKLE4 semapv:UnspecifiedMatching +OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:16805 semapv:UnspecifiedMatching +OMIM:611389 PRICKLE4 skos:exactMatch hgnc.symbol:PRICKLE4 semapv:UnspecifiedMatching OMIM:611389 PRICKLE4 skos:exactMatch ncbigene:29964 semapv:UnspecifiedMatching OMIM:611392 ADO skos:exactMatch UMLS:C1428110 semapv:UnspecifiedMatching -OMIM:611392 ADO skos:exactMatch hgnc:ADO semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch hgnc.symbol:23506 semapv:UnspecifiedMatching +OMIM:611392 ADO skos:exactMatch hgnc.symbol:ADO semapv:UnspecifiedMatching OMIM:611392 ADO skos:exactMatch ncbigene:84890 semapv:UnspecifiedMatching -OMIM:611393 FAM110A skos:exactMatch hgnc:FAM110A semapv:UnspecifiedMatching +OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:16188 semapv:UnspecifiedMatching +OMIM:611393 FAM110A skos:exactMatch hgnc.symbol:FAM110A semapv:UnspecifiedMatching OMIM:611393 FAM110A skos:exactMatch ncbigene:83541 semapv:UnspecifiedMatching -OMIM:611394 FAM110B skos:exactMatch hgnc:FAM110B semapv:UnspecifiedMatching +OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:28587 semapv:UnspecifiedMatching +OMIM:611394 FAM110B skos:exactMatch hgnc.symbol:FAM110B semapv:UnspecifiedMatching OMIM:611394 FAM110B skos:exactMatch ncbigene:90362 semapv:UnspecifiedMatching -OMIM:611395 FAM110C skos:exactMatch hgnc:FAM110C semapv:UnspecifiedMatching +OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:33340 semapv:UnspecifiedMatching +OMIM:611395 FAM110C skos:exactMatch hgnc.symbol:FAM110C semapv:UnspecifiedMatching OMIM:611395 FAM110C skos:exactMatch ncbigene:642273 semapv:UnspecifiedMatching -OMIM:611396 ADIG skos:exactMatch hgnc:ADIG semapv:UnspecifiedMatching +OMIM:611396 ADIG skos:exactMatch hgnc.symbol:28606 semapv:UnspecifiedMatching +OMIM:611396 ADIG skos:exactMatch hgnc.symbol:ADIG semapv:UnspecifiedMatching OMIM:611396 ADIG skos:exactMatch ncbigene:149685 semapv:UnspecifiedMatching OMIM:611397 TANC1 skos:exactMatch UMLS:C1823226 semapv:UnspecifiedMatching -OMIM:611397 TANC1 skos:exactMatch hgnc:TANC1 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:29364 semapv:UnspecifiedMatching +OMIM:611397 TANC1 skos:exactMatch hgnc.symbol:TANC1 semapv:UnspecifiedMatching OMIM:611397 TANC1 skos:exactMatch ncbigene:85461 semapv:UnspecifiedMatching -OMIM:611398 GAS2L2 skos:exactMatch hgnc:GAS2L2 semapv:UnspecifiedMatching +OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:24846 semapv:UnspecifiedMatching +OMIM:611398 GAS2L2 skos:exactMatch hgnc.symbol:GAS2L2 semapv:UnspecifiedMatching OMIM:611398 GAS2L2 skos:exactMatch ncbigene:246176 semapv:UnspecifiedMatching -OMIM:611399 SCLT1 skos:exactMatch hgnc:SCLT1 semapv:UnspecifiedMatching +OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:26406 semapv:UnspecifiedMatching +OMIM:611399 SCLT1 skos:exactMatch hgnc.symbol:SCLT1 semapv:UnspecifiedMatching OMIM:611399 SCLT1 skos:exactMatch ncbigene:132320 semapv:UnspecifiedMatching -OMIM:611400 HOTAIR skos:exactMatch hgnc:HOTAIR semapv:UnspecifiedMatching +OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:33510 semapv:UnspecifiedMatching +OMIM:611400 HOTAIR skos:exactMatch hgnc.symbol:HOTAIR semapv:UnspecifiedMatching OMIM:611400 HOTAIR skos:exactMatch ncbigene:100124700 semapv:UnspecifiedMatching -OMIM:611401 C6ORF15 skos:exactMatch hgnc:C6orf15 semapv:UnspecifiedMatching +OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:13927 semapv:UnspecifiedMatching +OMIM:611401 C6ORF15 skos:exactMatch hgnc.symbol:C6orf15 semapv:UnspecifiedMatching OMIM:611401 C6ORF15 skos:exactMatch ncbigene:29113 semapv:UnspecifiedMatching -OMIM:611402 DOK6 skos:exactMatch hgnc:DOK6 semapv:UnspecifiedMatching +OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:28301 semapv:UnspecifiedMatching +OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:DOK6 semapv:UnspecifiedMatching OMIM:611402 DOK6 skos:exactMatch ncbigene:220164 semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch UMLS:C1422281 semapv:UnspecifiedMatching -OMIM:611404 LY6G6F skos:exactMatch hgnc:LY6G6F semapv:UnspecifiedMatching +OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:13933 semapv:UnspecifiedMatching +OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:LY6G6F semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch ncbigene:259215 semapv:UnspecifiedMatching -OMIM:611405 RCL1 skos:exactMatch hgnc:RCL1 semapv:UnspecifiedMatching +OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:17687 semapv:UnspecifiedMatching +OMIM:611405 RCL1 skos:exactMatch hgnc.symbol:RCL1 semapv:UnspecifiedMatching OMIM:611405 RCL1 skos:exactMatch ncbigene:10171 semapv:UnspecifiedMatching -OMIM:611406 DYNC1LI2 skos:exactMatch hgnc:DYNC1LI2 semapv:UnspecifiedMatching +OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:2966 semapv:UnspecifiedMatching +OMIM:611406 DYNC1LI2 skos:exactMatch hgnc.symbol:DYNC1LI2 semapv:UnspecifiedMatching OMIM:611406 DYNC1LI2 skos:exactMatch ncbigene:1783 semapv:UnspecifiedMatching -OMIM:611408 LCA5 skos:exactMatch hgnc:LCA5 semapv:UnspecifiedMatching +OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:31923 semapv:UnspecifiedMatching +OMIM:611408 LCA5 skos:exactMatch hgnc.symbol:LCA5 semapv:UnspecifiedMatching OMIM:611408 LCA5 skos:exactMatch ncbigene:167691 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch UMLS:C0268495 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch UMLS:C0268497 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch UMLS:C1417925 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch UMLS:C1856895 semapv:UnspecifiedMatching -OMIM:611409 OCA2 skos:exactMatch hgnc:OCA2 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:8101 semapv:UnspecifiedMatching +OMIM:611409 OCA2 skos:exactMatch hgnc.symbol:OCA2 semapv:UnspecifiedMatching OMIM:611409 OCA2 skos:exactMatch ncbigene:4948 semapv:UnspecifiedMatching -OMIM:611410 RIPOR2 skos:exactMatch hgnc:RIPOR2 semapv:UnspecifiedMatching +OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:13872 semapv:UnspecifiedMatching +OMIM:611410 RIPOR2 skos:exactMatch hgnc.symbol:RIPOR2 semapv:UnspecifiedMatching OMIM:611410 RIPOR2 skos:exactMatch ncbigene:9750 semapv:UnspecifiedMatching -OMIM:611411 CAMKK1 skos:exactMatch hgnc:CAMKK1 semapv:UnspecifiedMatching +OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:1469 semapv:UnspecifiedMatching +OMIM:611411 CAMKK1 skos:exactMatch hgnc.symbol:CAMKK1 semapv:UnspecifiedMatching OMIM:611411 CAMKK1 skos:exactMatch ncbigene:84254 semapv:UnspecifiedMatching -OMIM:611412 NPL skos:exactMatch hgnc:NPL semapv:UnspecifiedMatching +OMIM:611412 NPL skos:exactMatch hgnc.symbol:16781 semapv:UnspecifiedMatching +OMIM:611412 NPL skos:exactMatch hgnc.symbol:NPL semapv:UnspecifiedMatching OMIM:611412 NPL skos:exactMatch ncbigene:80896 semapv:UnspecifiedMatching -OMIM:611413 DLGAP3 skos:exactMatch hgnc:DLGAP3 semapv:UnspecifiedMatching +OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:30368 semapv:UnspecifiedMatching +OMIM:611413 DLGAP3 skos:exactMatch hgnc.symbol:DLGAP3 semapv:UnspecifiedMatching OMIM:611413 DLGAP3 skos:exactMatch ncbigene:58512 semapv:UnspecifiedMatching -OMIM:611414 CALR3 skos:exactMatch hgnc:CALR3 semapv:UnspecifiedMatching +OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:20407 semapv:UnspecifiedMatching +OMIM:611414 CALR3 skos:exactMatch hgnc.symbol:CALR3 semapv:UnspecifiedMatching OMIM:611414 CALR3 skos:exactMatch ncbigene:125972 semapv:UnspecifiedMatching -OMIM:611415 POLD3 skos:exactMatch hgnc:POLD3 semapv:UnspecifiedMatching +OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:20932 semapv:UnspecifiedMatching +OMIM:611415 POLD3 skos:exactMatch hgnc.symbol:POLD3 semapv:UnspecifiedMatching OMIM:611415 POLD3 skos:exactMatch ncbigene:10714 semapv:UnspecifiedMatching -OMIM:611416 TOX3 skos:exactMatch hgnc:TOX3 semapv:UnspecifiedMatching +OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:11972 semapv:UnspecifiedMatching +OMIM:611416 TOX3 skos:exactMatch hgnc.symbol:TOX3 semapv:UnspecifiedMatching OMIM:611416 TOX3 skos:exactMatch ncbigene:27324 semapv:UnspecifiedMatching -OMIM:611417 SGSM1 skos:exactMatch hgnc:SGSM1 semapv:UnspecifiedMatching +OMIM:611417 SGSM1 skos:exactMatch hgnc.symbol:29410 semapv:UnspecifiedMatching +OMIM:611417 SGSM1 skos:exactMatch hgnc.symbol:SGSM1 semapv:UnspecifiedMatching OMIM:611417 SGSM1 skos:exactMatch ncbigene:129049 semapv:UnspecifiedMatching -OMIM:611418 SGSM2 skos:exactMatch hgnc:SGSM2 semapv:UnspecifiedMatching +OMIM:611418 SGSM2 skos:exactMatch hgnc.symbol:29026 semapv:UnspecifiedMatching +OMIM:611418 SGSM2 skos:exactMatch hgnc.symbol:SGSM2 semapv:UnspecifiedMatching OMIM:611418 SGSM2 skos:exactMatch ncbigene:9905 semapv:UnspecifiedMatching -OMIM:611419 SMIM29 skos:exactMatch hgnc:SMIM29 semapv:UnspecifiedMatching +OMIM:611419 SMIM29 skos:exactMatch hgnc.symbol:1340 semapv:UnspecifiedMatching +OMIM:611419 SMIM29 skos:exactMatch hgnc.symbol:SMIM29 semapv:UnspecifiedMatching OMIM:611419 SMIM29 skos:exactMatch ncbigene:221491 semapv:UnspecifiedMatching -OMIM:611420 CIZ1 skos:exactMatch hgnc:CIZ1 semapv:UnspecifiedMatching +OMIM:611420 CIZ1 skos:exactMatch hgnc.symbol:16744 semapv:UnspecifiedMatching +OMIM:611420 CIZ1 skos:exactMatch hgnc.symbol:CIZ1 semapv:UnspecifiedMatching OMIM:611420 CIZ1 skos:exactMatch ncbigene:25792 semapv:UnspecifiedMatching -OMIM:611421 SRCAP skos:exactMatch hgnc:SRCAP semapv:UnspecifiedMatching +OMIM:611421 SRCAP skos:exactMatch hgnc.symbol:16974 semapv:UnspecifiedMatching +OMIM:611421 SRCAP skos:exactMatch hgnc.symbol:SRCAP semapv:UnspecifiedMatching OMIM:611421 SRCAP skos:exactMatch ncbigene:10847 semapv:UnspecifiedMatching -OMIM:611422 MND1 skos:exactMatch hgnc:MND1 semapv:UnspecifiedMatching +OMIM:611422 MND1 skos:exactMatch hgnc.symbol:24839 semapv:UnspecifiedMatching +OMIM:611422 MND1 skos:exactMatch hgnc.symbol:MND1 semapv:UnspecifiedMatching OMIM:611422 MND1 skos:exactMatch ncbigene:84057 semapv:UnspecifiedMatching -OMIM:611423 CEP135 skos:exactMatch hgnc:CEP135 semapv:UnspecifiedMatching +OMIM:611423 CEP135 skos:exactMatch hgnc.symbol:29086 semapv:UnspecifiedMatching +OMIM:611423 CEP135 skos:exactMatch hgnc.symbol:CEP135 semapv:UnspecifiedMatching OMIM:611423 CEP135 skos:exactMatch ncbigene:9662 semapv:UnspecifiedMatching -OMIM:611424 ZMYND19 skos:exactMatch hgnc:ZMYND19 semapv:UnspecifiedMatching +OMIM:611424 ZMYND19 skos:exactMatch hgnc.symbol:21146 semapv:UnspecifiedMatching +OMIM:611424 ZMYND19 skos:exactMatch hgnc.symbol:ZMYND19 semapv:UnspecifiedMatching OMIM:611424 ZMYND19 skos:exactMatch ncbigene:116225 semapv:UnspecifiedMatching -OMIM:611425 CNTROB skos:exactMatch hgnc:CNTROB semapv:UnspecifiedMatching +OMIM:611425 CNTROB skos:exactMatch hgnc.symbol:29616 semapv:UnspecifiedMatching +OMIM:611425 CNTROB skos:exactMatch hgnc.symbol:CNTROB semapv:UnspecifiedMatching OMIM:611425 CNTROB skos:exactMatch ncbigene:116840 semapv:UnspecifiedMatching -OMIM:611427 MTHFD1L skos:exactMatch hgnc:MTHFD1L semapv:UnspecifiedMatching +OMIM:611427 MTHFD1L skos:exactMatch hgnc.symbol:21055 semapv:UnspecifiedMatching +OMIM:611427 MTHFD1L skos:exactMatch hgnc.symbol:MTHFD1L semapv:UnspecifiedMatching OMIM:611427 MTHFD1L skos:exactMatch ncbigene:25902 semapv:UnspecifiedMatching -OMIM:611428 DONSON skos:exactMatch hgnc:DONSON semapv:UnspecifiedMatching +OMIM:611428 DONSON skos:exactMatch hgnc.symbol:2993 semapv:UnspecifiedMatching +OMIM:611428 DONSON skos:exactMatch hgnc.symbol:DONSON semapv:UnspecifiedMatching OMIM:611428 DONSON skos:exactMatch ncbigene:29980 semapv:UnspecifiedMatching -OMIM:611429 APRG1 skos:exactMatch hgnc:APRG1 semapv:UnspecifiedMatching +OMIM:611429 APRG1 skos:exactMatch hgnc.symbol:24082 semapv:UnspecifiedMatching +OMIM:611429 APRG1 skos:exactMatch hgnc.symbol:APRG1 semapv:UnspecifiedMatching OMIM:611429 APRG1 skos:exactMatch ncbigene:339883 semapv:UnspecifiedMatching -OMIM:611430 TTC21A skos:exactMatch hgnc:TTC21A semapv:UnspecifiedMatching +OMIM:611430 TTC21A skos:exactMatch hgnc.symbol:30761 semapv:UnspecifiedMatching +OMIM:611430 TTC21A skos:exactMatch hgnc.symbol:TTC21A semapv:UnspecifiedMatching OMIM:611430 TTC21A skos:exactMatch ncbigene:199223 semapv:UnspecifiedMatching -OMIM:611432 DOCK8 skos:exactMatch hgnc:DOCK8 semapv:UnspecifiedMatching +OMIM:611432 DOCK8 skos:exactMatch hgnc.symbol:19191 semapv:UnspecifiedMatching +OMIM:611432 DOCK8 skos:exactMatch hgnc.symbol:DOCK8 semapv:UnspecifiedMatching OMIM:611432 DOCK8 skos:exactMatch ncbigene:81704 semapv:UnspecifiedMatching -OMIM:611433 STYK1 skos:exactMatch hgnc:STYK1 semapv:UnspecifiedMatching +OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:18889 semapv:UnspecifiedMatching +OMIM:611433 STYK1 skos:exactMatch hgnc.symbol:STYK1 semapv:UnspecifiedMatching OMIM:611433 STYK1 skos:exactMatch ncbigene:55359 semapv:UnspecifiedMatching -OMIM:611434 CLNK skos:exactMatch hgnc:CLNK semapv:UnspecifiedMatching +OMIM:611434 CLNK skos:exactMatch hgnc.symbol:17438 semapv:UnspecifiedMatching +OMIM:611434 CLNK skos:exactMatch hgnc.symbol:CLNK semapv:UnspecifiedMatching OMIM:611434 CLNK skos:exactMatch ncbigene:116449 semapv:UnspecifiedMatching -OMIM:611435 DOK3 skos:exactMatch hgnc:DOK3 semapv:UnspecifiedMatching +OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:24583 semapv:UnspecifiedMatching +OMIM:611435 DOK3 skos:exactMatch hgnc.symbol:DOK3 semapv:UnspecifiedMatching OMIM:611435 DOK3 skos:exactMatch ncbigene:79930 semapv:UnspecifiedMatching -OMIM:611436 CA13 skos:exactMatch hgnc:CA13 semapv:UnspecifiedMatching +OMIM:611436 CA13 skos:exactMatch hgnc.symbol:14914 semapv:UnspecifiedMatching +OMIM:611436 CA13 skos:exactMatch hgnc.symbol:CA13 semapv:UnspecifiedMatching OMIM:611436 CA13 skos:exactMatch ncbigene:377677 semapv:UnspecifiedMatching -OMIM:611437 DUSP19 skos:exactMatch hgnc:DUSP19 semapv:UnspecifiedMatching +OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:18894 semapv:UnspecifiedMatching +OMIM:611437 DUSP19 skos:exactMatch hgnc.symbol:DUSP19 semapv:UnspecifiedMatching OMIM:611437 DUSP19 skos:exactMatch ncbigene:142679 semapv:UnspecifiedMatching -OMIM:611438 TXLNB skos:exactMatch hgnc:TXLNB semapv:UnspecifiedMatching +OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:21617 semapv:UnspecifiedMatching +OMIM:611438 TXLNB skos:exactMatch hgnc.symbol:TXLNB semapv:UnspecifiedMatching OMIM:611438 TXLNB skos:exactMatch ncbigene:167838 semapv:UnspecifiedMatching -OMIM:611439 ZBTB22 skos:exactMatch hgnc:ZBTB22 semapv:UnspecifiedMatching +OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:13085 semapv:UnspecifiedMatching +OMIM:611439 ZBTB22 skos:exactMatch hgnc.symbol:ZBTB22 semapv:UnspecifiedMatching OMIM:611439 ZBTB22 skos:exactMatch ncbigene:9278 semapv:UnspecifiedMatching -OMIM:611440 WDR46 skos:exactMatch hgnc:WDR46 semapv:UnspecifiedMatching +OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:13923 semapv:UnspecifiedMatching +OMIM:611440 WDR46 skos:exactMatch hgnc.symbol:WDR46 semapv:UnspecifiedMatching OMIM:611440 WDR46 skos:exactMatch ncbigene:9277 semapv:UnspecifiedMatching -OMIM:611441 DUX1 skos:exactMatch hgnc:DUX1 semapv:UnspecifiedMatching +OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:3079 semapv:UnspecifiedMatching +OMIM:611441 DUX1 skos:exactMatch hgnc.symbol:DUX1 semapv:UnspecifiedMatching OMIM:611441 DUX1 skos:exactMatch ncbigene:26584 semapv:UnspecifiedMatching -OMIM:611442 DUX2 skos:exactMatch hgnc:DUX4L8 semapv:UnspecifiedMatching +OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:38670 semapv:UnspecifiedMatching +OMIM:611442 DUX2 skos:exactMatch hgnc.symbol:DUX4L8 semapv:UnspecifiedMatching OMIM:611442 DUX2 skos:exactMatch ncbigene:26583 semapv:UnspecifiedMatching -OMIM:611443 DUX3 skos:exactMatch hgnc:DUX3 semapv:UnspecifiedMatching +OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:3081 semapv:UnspecifiedMatching +OMIM:611443 DUX3 skos:exactMatch hgnc.symbol:DUX3 semapv:UnspecifiedMatching OMIM:611443 DUX3 skos:exactMatch ncbigene:26582 semapv:UnspecifiedMatching -OMIM:611444 DUX5 skos:exactMatch hgnc:DUX5 semapv:UnspecifiedMatching +OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:3083 semapv:UnspecifiedMatching +OMIM:611444 DUX5 skos:exactMatch hgnc.symbol:DUX5 semapv:UnspecifiedMatching OMIM:611444 DUX5 skos:exactMatch ncbigene:26581 semapv:UnspecifiedMatching -OMIM:611445 DNM3 skos:exactMatch hgnc:DNM3 semapv:UnspecifiedMatching +OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:29125 semapv:UnspecifiedMatching +OMIM:611445 DNM3 skos:exactMatch hgnc.symbol:DNM3 semapv:UnspecifiedMatching OMIM:611445 DNM3 skos:exactMatch ncbigene:26052 semapv:UnspecifiedMatching -OMIM:611446 DUSP18 skos:exactMatch hgnc:DUSP18 semapv:UnspecifiedMatching +OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:18484 semapv:UnspecifiedMatching +OMIM:611446 DUSP18 skos:exactMatch hgnc.symbol:DUSP18 semapv:UnspecifiedMatching OMIM:611446 DUSP18 skos:exactMatch ncbigene:150290 semapv:UnspecifiedMatching -OMIM:611447 YBX2 skos:exactMatch hgnc:YBX2 semapv:UnspecifiedMatching +OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:17948 semapv:UnspecifiedMatching +OMIM:611447 YBX2 skos:exactMatch hgnc.symbol:YBX2 semapv:UnspecifiedMatching OMIM:611447 YBX2 skos:exactMatch ncbigene:51087 semapv:UnspecifiedMatching -OMIM:611448 BMS1 skos:exactMatch hgnc:BMS1 semapv:UnspecifiedMatching +OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:23505 semapv:UnspecifiedMatching +OMIM:611448 BMS1 skos:exactMatch hgnc.symbol:BMS1 semapv:UnspecifiedMatching OMIM:611448 BMS1 skos:exactMatch ncbigene:9790 semapv:UnspecifiedMatching -OMIM:611449 XPO4 skos:exactMatch hgnc:XPO4 semapv:UnspecifiedMatching +OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:17796 semapv:UnspecifiedMatching +OMIM:611449 XPO4 skos:exactMatch hgnc.symbol:XPO4 semapv:UnspecifiedMatching OMIM:611449 XPO4 skos:exactMatch ncbigene:64328 semapv:UnspecifiedMatching -OMIM:611450 PXK skos:exactMatch hgnc:PXK semapv:UnspecifiedMatching +OMIM:611450 PXK skos:exactMatch hgnc.symbol:23326 semapv:UnspecifiedMatching +OMIM:611450 PXK skos:exactMatch hgnc.symbol:PXK semapv:UnspecifiedMatching OMIM:611450 PXK skos:exactMatch ncbigene:54899 semapv:UnspecifiedMatching -OMIM:611453 DBNDD2 skos:exactMatch hgnc:DBNDD2 semapv:UnspecifiedMatching +OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:15881 semapv:UnspecifiedMatching +OMIM:611453 DBNDD2 skos:exactMatch hgnc.symbol:DBNDD2 semapv:UnspecifiedMatching OMIM:611453 DBNDD2 skos:exactMatch ncbigene:55861 semapv:UnspecifiedMatching -OMIM:611455 KNCN skos:exactMatch hgnc:KNCN semapv:UnspecifiedMatching +OMIM:611455 KNCN skos:exactMatch hgnc.symbol:26488 semapv:UnspecifiedMatching +OMIM:611455 KNCN skos:exactMatch hgnc.symbol:KNCN semapv:UnspecifiedMatching OMIM:611455 KNCN skos:exactMatch ncbigene:148930 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch UMLS:C1969616 semapv:UnspecifiedMatching -OMIM:611457 FOXO6 skos:exactMatch hgnc:FOXO6 semapv:UnspecifiedMatching +OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:24814 semapv:UnspecifiedMatching +OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:FOXO6 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch ncbigene:100132074 semapv:UnspecifiedMatching -OMIM:611458 GLB1 skos:exactMatch hgnc:GLB1 semapv:UnspecifiedMatching +OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:4298 semapv:UnspecifiedMatching +OMIM:611458 GLB1 skos:exactMatch hgnc.symbol:GLB1 semapv:UnspecifiedMatching OMIM:611458 GLB1 skos:exactMatch ncbigene:2720 semapv:UnspecifiedMatching -OMIM:611459 SLC10A7 skos:exactMatch hgnc:SLC10A7 semapv:UnspecifiedMatching +OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:23088 semapv:UnspecifiedMatching +OMIM:611459 SLC10A7 skos:exactMatch hgnc.symbol:SLC10A7 semapv:UnspecifiedMatching OMIM:611459 SLC10A7 skos:exactMatch ncbigene:84068 semapv:UnspecifiedMatching -OMIM:611460 TPRG1L skos:exactMatch hgnc:TPRG1L semapv:UnspecifiedMatching +OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:27007 semapv:UnspecifiedMatching +OMIM:611460 TPRG1L skos:exactMatch hgnc.symbol:TPRG1L semapv:UnspecifiedMatching OMIM:611460 TPRG1L skos:exactMatch ncbigene:127262 semapv:UnspecifiedMatching OMIM:611461 SLC22A17 skos:exactMatch UMLS:C1427912 semapv:UnspecifiedMatching -OMIM:611461 SLC22A17 skos:exactMatch hgnc:SLC22A17 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:23095 semapv:UnspecifiedMatching +OMIM:611461 SLC22A17 skos:exactMatch hgnc.symbol:SLC22A17 semapv:UnspecifiedMatching OMIM:611461 SLC22A17 skos:exactMatch ncbigene:51310 semapv:UnspecifiedMatching -OMIM:611462 PIK3R6 skos:exactMatch hgnc:PIK3R6 semapv:UnspecifiedMatching +OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:27101 semapv:UnspecifiedMatching +OMIM:611462 PIK3R6 skos:exactMatch hgnc.symbol:PIK3R6 semapv:UnspecifiedMatching OMIM:611462 PIK3R6 skos:exactMatch ncbigene:146850 semapv:UnspecifiedMatching -OMIM:611463 SAT2 skos:exactMatch hgnc:SAT2 semapv:UnspecifiedMatching +OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:23160 semapv:UnspecifiedMatching +OMIM:611463 SAT2 skos:exactMatch hgnc.symbol:SAT2 semapv:UnspecifiedMatching OMIM:611463 SAT2 skos:exactMatch ncbigene:112483 semapv:UnspecifiedMatching OMIM:611464 MON1A skos:exactMatch UMLS:C1537933 semapv:UnspecifiedMatching -OMIM:611464 MON1A skos:exactMatch hgnc:MON1A semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch hgnc.symbol:28207 semapv:UnspecifiedMatching +OMIM:611464 MON1A skos:exactMatch hgnc.symbol:MON1A semapv:UnspecifiedMatching OMIM:611464 MON1A skos:exactMatch ncbigene:84315 semapv:UnspecifiedMatching -OMIM:611466 PLEKHM1 skos:exactMatch hgnc:PLEKHM1 semapv:UnspecifiedMatching +OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:29017 semapv:UnspecifiedMatching +OMIM:611466 PLEKHM1 skos:exactMatch hgnc.symbol:PLEKHM1 semapv:UnspecifiedMatching OMIM:611466 PLEKHM1 skos:exactMatch ncbigene:9842 semapv:UnspecifiedMatching -OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc:GBP5 semapv:UnspecifiedMatching +OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:19895 semapv:UnspecifiedMatching +OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch hgnc.symbol:GBP5 semapv:UnspecifiedMatching OMIM:611467 guanylate-binding protein 5: gbp5 skos:exactMatch ncbigene:115362 semapv:UnspecifiedMatching -OMIM:611468 BDNFAS skos:exactMatch hgnc:BDNF-AS semapv:UnspecifiedMatching +OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:20608 semapv:UnspecifiedMatching +OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:BDNF-AS semapv:UnspecifiedMatching OMIM:611468 BDNFAS skos:exactMatch ncbigene:497258 semapv:UnspecifiedMatching -OMIM:611470 GLULD1 skos:exactMatch hgnc:LGSN semapv:UnspecifiedMatching +OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:21016 semapv:UnspecifiedMatching +OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:LGSN semapv:UnspecifiedMatching OMIM:611470 GLULD1 skos:exactMatch ncbigene:51557 semapv:UnspecifiedMatching -OMIM:611471 ACP6 skos:exactMatch hgnc:ACP6 semapv:UnspecifiedMatching +OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:29609 semapv:UnspecifiedMatching +OMIM:611471 ACP6 skos:exactMatch hgnc.symbol:ACP6 semapv:UnspecifiedMatching OMIM:611471 ACP6 skos:exactMatch ncbigene:51205 semapv:UnspecifiedMatching -OMIM:611472 MBD5 skos:exactMatch hgnc:MBD5 semapv:UnspecifiedMatching +OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:20444 semapv:UnspecifiedMatching +OMIM:611472 MBD5 skos:exactMatch hgnc.symbol:MBD5 semapv:UnspecifiedMatching OMIM:611472 MBD5 skos:exactMatch ncbigene:55777 semapv:UnspecifiedMatching -OMIM:611473 ESRG skos:exactMatch hgnc:ESRG semapv:UnspecifiedMatching +OMIM:611473 ESRG skos:exactMatch hgnc.symbol:39079 semapv:UnspecifiedMatching +OMIM:611473 ESRG skos:exactMatch hgnc.symbol:ESRG semapv:UnspecifiedMatching OMIM:611473 ESRG skos:exactMatch ncbigene:790952 semapv:UnspecifiedMatching -OMIM:611474 PLAAT5 skos:exactMatch hgnc:PLAAT5 semapv:UnspecifiedMatching +OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:24978 semapv:UnspecifiedMatching +OMIM:611474 PLAAT5 skos:exactMatch hgnc.symbol:PLAAT5 semapv:UnspecifiedMatching OMIM:611474 PLAAT5 skos:exactMatch ncbigene:117245 semapv:UnspecifiedMatching -OMIM:611475 RPAP1 skos:exactMatch hgnc:RPAP1 semapv:UnspecifiedMatching +OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:24567 semapv:UnspecifiedMatching +OMIM:611475 RPAP1 skos:exactMatch hgnc.symbol:RPAP1 semapv:UnspecifiedMatching OMIM:611475 RPAP1 skos:exactMatch ncbigene:26015 semapv:UnspecifiedMatching -OMIM:611476 RPAP2 skos:exactMatch hgnc:RPAP2 semapv:UnspecifiedMatching +OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:25791 semapv:UnspecifiedMatching +OMIM:611476 RPAP2 skos:exactMatch hgnc.symbol:RPAP2 semapv:UnspecifiedMatching OMIM:611476 RPAP2 skos:exactMatch ncbigene:79871 semapv:UnspecifiedMatching -OMIM:611477 RPAP3 skos:exactMatch hgnc:RPAP3 semapv:UnspecifiedMatching +OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:26151 semapv:UnspecifiedMatching +OMIM:611477 RPAP3 skos:exactMatch hgnc.symbol:RPAP3 semapv:UnspecifiedMatching OMIM:611477 RPAP3 skos:exactMatch ncbigene:79657 semapv:UnspecifiedMatching -OMIM:611478 MEPCE skos:exactMatch hgnc:MEPCE semapv:UnspecifiedMatching +OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:20247 semapv:UnspecifiedMatching +OMIM:611478 MEPCE skos:exactMatch hgnc.symbol:MEPCE semapv:UnspecifiedMatching OMIM:611478 MEPCE skos:exactMatch ncbigene:56257 semapv:UnspecifiedMatching -OMIM:611479 XAB1 skos:exactMatch hgnc:GPN1 semapv:UnspecifiedMatching +OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:17030 semapv:UnspecifiedMatching +OMIM:611479 XAB1 skos:exactMatch hgnc.symbol:GPN1 semapv:UnspecifiedMatching OMIM:611479 XAB1 skos:exactMatch ncbigene:11321 semapv:UnspecifiedMatching -OMIM:611480 PIH1D1 skos:exactMatch hgnc:PIH1D1 semapv:UnspecifiedMatching +OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:26075 semapv:UnspecifiedMatching +OMIM:611480 PIH1D1 skos:exactMatch hgnc.symbol:PIH1D1 semapv:UnspecifiedMatching OMIM:611480 PIH1D1 skos:exactMatch ncbigene:55011 semapv:UnspecifiedMatching -OMIM:611481 UFSP1 skos:exactMatch hgnc:UFSP1 semapv:UnspecifiedMatching +OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:33821 semapv:UnspecifiedMatching +OMIM:611481 UFSP1 skos:exactMatch hgnc.symbol:UFSP1 semapv:UnspecifiedMatching OMIM:611481 UFSP1 skos:exactMatch ncbigene:402682 semapv:UnspecifiedMatching -OMIM:611482 UFSP2 skos:exactMatch hgnc:UFSP2 semapv:UnspecifiedMatching +OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:25640 semapv:UnspecifiedMatching +OMIM:611482 UFSP2 skos:exactMatch hgnc.symbol:UFSP2 semapv:UnspecifiedMatching OMIM:611482 UFSP2 skos:exactMatch ncbigene:55325 semapv:UnspecifiedMatching OMIM:611483 YIPF5 skos:exactMatch UMLS:C1823890 semapv:UnspecifiedMatching -OMIM:611483 YIPF5 skos:exactMatch hgnc:YIPF5 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:24877 semapv:UnspecifiedMatching +OMIM:611483 YIPF5 skos:exactMatch hgnc.symbol:YIPF5 semapv:UnspecifiedMatching OMIM:611483 YIPF5 skos:exactMatch ncbigene:81555 semapv:UnspecifiedMatching OMIM:611484 YIF1A skos:exactMatch UMLS:C1823885 semapv:UnspecifiedMatching -OMIM:611484 YIF1A skos:exactMatch hgnc:YIF1A semapv:UnspecifiedMatching +OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:16688 semapv:UnspecifiedMatching +OMIM:611484 YIF1A skos:exactMatch hgnc.symbol:YIF1A semapv:UnspecifiedMatching OMIM:611484 YIF1A skos:exactMatch ncbigene:10897 semapv:UnspecifiedMatching -OMIM:611485 CYP4F12 skos:exactMatch hgnc:CYP4F12 semapv:UnspecifiedMatching +OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:18857 semapv:UnspecifiedMatching +OMIM:611485 CYP4F12 skos:exactMatch hgnc.symbol:CYP4F12 semapv:UnspecifiedMatching OMIM:611485 CYP4F12 skos:exactMatch ncbigene:66002 semapv:UnspecifiedMatching -OMIM:611486 SYCE1 skos:exactMatch hgnc:SYCE1 semapv:UnspecifiedMatching +OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:28852 semapv:UnspecifiedMatching +OMIM:611486 SYCE1 skos:exactMatch hgnc.symbol:SYCE1 semapv:UnspecifiedMatching OMIM:611486 SYCE1 skos:exactMatch ncbigene:93426 semapv:UnspecifiedMatching -OMIM:611487 SYCE2 skos:exactMatch hgnc:SYCE2 semapv:UnspecifiedMatching +OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:27411 semapv:UnspecifiedMatching +OMIM:611487 SYCE2 skos:exactMatch hgnc.symbol:SYCE2 semapv:UnspecifiedMatching OMIM:611487 SYCE2 skos:exactMatch ncbigene:256126 semapv:UnspecifiedMatching -OMIM:611491 RADIL skos:exactMatch hgnc:RADIL semapv:UnspecifiedMatching +OMIM:611491 RADIL skos:exactMatch hgnc.symbol:22226 semapv:UnspecifiedMatching +OMIM:611491 RADIL skos:exactMatch hgnc.symbol:RADIL semapv:UnspecifiedMatching OMIM:611491 RADIL skos:exactMatch ncbigene:55698 semapv:UnspecifiedMatching -OMIM:611492 CA2 skos:exactMatch hgnc:CA2 semapv:UnspecifiedMatching +OMIM:611492 CA2 skos:exactMatch hgnc.symbol:1373 semapv:UnspecifiedMatching +OMIM:611492 CA2 skos:exactMatch hgnc.symbol:CA2 semapv:UnspecifiedMatching OMIM:611492 CA2 skos:exactMatch ncbigene:760 semapv:UnspecifiedMatching -OMIM:611495 CYP4F22 skos:exactMatch hgnc:CYP4F22 semapv:UnspecifiedMatching +OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:26820 semapv:UnspecifiedMatching +OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:CYP4F22 semapv:UnspecifiedMatching OMIM:611495 CYP4F22 skos:exactMatch ncbigene:126410 semapv:UnspecifiedMatching -OMIM:611496 GATA5 skos:exactMatch hgnc:GATA5 semapv:UnspecifiedMatching +OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:15802 semapv:UnspecifiedMatching +OMIM:611496 GATA5 skos:exactMatch hgnc.symbol:GATA5 semapv:UnspecifiedMatching OMIM:611496 GATA5 skos:exactMatch ncbigene:140628 semapv:UnspecifiedMatching -OMIM:611499 GUSB skos:exactMatch hgnc:GUSB semapv:UnspecifiedMatching +OMIM:611499 GUSB skos:exactMatch hgnc.symbol:4696 semapv:UnspecifiedMatching +OMIM:611499 GUSB skos:exactMatch hgnc.symbol:GUSB semapv:UnspecifiedMatching OMIM:611499 GUSB skos:exactMatch ncbigene:2990 semapv:UnspecifiedMatching -OMIM:611500 MIR219-1 skos:exactMatch hgnc:MIR219A1 semapv:UnspecifiedMatching +OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:31597 semapv:UnspecifiedMatching +OMIM:611500 MIR219-1 skos:exactMatch hgnc.symbol:MIR219A1 semapv:UnspecifiedMatching OMIM:611500 MIR219-1 skos:exactMatch ncbigene:407002 semapv:UnspecifiedMatching -OMIM:611501 CAMTA1 skos:exactMatch hgnc:CAMTA1 semapv:UnspecifiedMatching +OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:18806 semapv:UnspecifiedMatching +OMIM:611501 CAMTA1 skos:exactMatch hgnc.symbol:CAMTA1 semapv:UnspecifiedMatching OMIM:611501 CAMTA1 skos:exactMatch ncbigene:23261 semapv:UnspecifiedMatching -OMIM:611502 CENPK skos:exactMatch hgnc:CENPK semapv:UnspecifiedMatching +OMIM:611502 CENPK skos:exactMatch hgnc.symbol:29479 semapv:UnspecifiedMatching +OMIM:611502 CENPK skos:exactMatch hgnc.symbol:CENPK semapv:UnspecifiedMatching OMIM:611502 CENPK skos:exactMatch ncbigene:64105 semapv:UnspecifiedMatching -OMIM:611503 CENPL skos:exactMatch hgnc:CENPL semapv:UnspecifiedMatching +OMIM:611503 CENPL skos:exactMatch hgnc.symbol:17879 semapv:UnspecifiedMatching +OMIM:611503 CENPL skos:exactMatch hgnc.symbol:CENPL semapv:UnspecifiedMatching OMIM:611503 CENPL skos:exactMatch ncbigene:91687 semapv:UnspecifiedMatching -OMIM:611504 CENPO skos:exactMatch hgnc:CENPO semapv:UnspecifiedMatching +OMIM:611504 CENPO skos:exactMatch hgnc.symbol:28152 semapv:UnspecifiedMatching +OMIM:611504 CENPO skos:exactMatch hgnc.symbol:CENPO semapv:UnspecifiedMatching OMIM:611504 CENPO skos:exactMatch ncbigene:79172 semapv:UnspecifiedMatching -OMIM:611505 CENPP skos:exactMatch hgnc:CENPP semapv:UnspecifiedMatching +OMIM:611505 CENPP skos:exactMatch hgnc.symbol:32933 semapv:UnspecifiedMatching +OMIM:611505 CENPP skos:exactMatch hgnc.symbol:CENPP semapv:UnspecifiedMatching OMIM:611505 CENPP skos:exactMatch ncbigene:401541 semapv:UnspecifiedMatching -OMIM:611506 CENPQ skos:exactMatch hgnc:CENPQ semapv:UnspecifiedMatching +OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:21347 semapv:UnspecifiedMatching +OMIM:611506 CENPQ skos:exactMatch hgnc.symbol:CENPQ semapv:UnspecifiedMatching OMIM:611506 CENPQ skos:exactMatch ncbigene:55166 semapv:UnspecifiedMatching -OMIM:611507 CISD2 skos:exactMatch hgnc:CISD2 semapv:UnspecifiedMatching +OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:24212 semapv:UnspecifiedMatching +OMIM:611507 CISD2 skos:exactMatch hgnc.symbol:CISD2 semapv:UnspecifiedMatching OMIM:611507 CISD2 skos:exactMatch ncbigene:493856 semapv:UnspecifiedMatching -OMIM:611508 CAMTA2 skos:exactMatch hgnc:CAMTA2 semapv:UnspecifiedMatching +OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:18807 semapv:UnspecifiedMatching +OMIM:611508 CAMTA2 skos:exactMatch hgnc.symbol:CAMTA2 semapv:UnspecifiedMatching OMIM:611508 CAMTA2 skos:exactMatch ncbigene:23125 semapv:UnspecifiedMatching -OMIM:611509 CENPN skos:exactMatch hgnc:CENPN semapv:UnspecifiedMatching +OMIM:611509 CENPN skos:exactMatch hgnc.symbol:30873 semapv:UnspecifiedMatching +OMIM:611509 CENPN skos:exactMatch hgnc.symbol:CENPN semapv:UnspecifiedMatching OMIM:611509 CENPN skos:exactMatch ncbigene:55839 semapv:UnspecifiedMatching -OMIM:611510 CENPT skos:exactMatch hgnc:CENPT semapv:UnspecifiedMatching +OMIM:611510 CENPT skos:exactMatch hgnc.symbol:25787 semapv:UnspecifiedMatching +OMIM:611510 CENPT skos:exactMatch hgnc.symbol:CENPT semapv:UnspecifiedMatching OMIM:611510 CENPT skos:exactMatch ncbigene:80152 semapv:UnspecifiedMatching -OMIM:611511 MLF1IP skos:exactMatch hgnc:CENPU semapv:UnspecifiedMatching +OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:21348 semapv:UnspecifiedMatching +OMIM:611511 MLF1IP skos:exactMatch hgnc.symbol:CENPU semapv:UnspecifiedMatching OMIM:611511 MLF1IP skos:exactMatch ncbigene:79682 semapv:UnspecifiedMatching -OMIM:611512 KDM3A skos:exactMatch hgnc:KDM3A semapv:UnspecifiedMatching +OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:20815 semapv:UnspecifiedMatching +OMIM:611512 KDM3A skos:exactMatch hgnc.symbol:KDM3A semapv:UnspecifiedMatching OMIM:611512 KDM3A skos:exactMatch ncbigene:55818 semapv:UnspecifiedMatching -OMIM:611513 NEUROD6 skos:exactMatch hgnc:NEUROD6 semapv:UnspecifiedMatching +OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:13804 semapv:UnspecifiedMatching +OMIM:611513 NEUROD6 skos:exactMatch hgnc.symbol:NEUROD6 semapv:UnspecifiedMatching OMIM:611513 NEUROD6 skos:exactMatch ncbigene:63974 semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch UMLS:C1825410 semapv:UnspecifiedMatching -OMIM:611514 WLS skos:exactMatch hgnc:WLS semapv:UnspecifiedMatching +OMIM:611514 WLS skos:exactMatch hgnc.symbol:30238 semapv:UnspecifiedMatching +OMIM:611514 WLS skos:exactMatch hgnc.symbol:WLS semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch ncbigene:79971 semapv:UnspecifiedMatching -OMIM:611516 NICN1 skos:exactMatch hgnc:NICN1 semapv:UnspecifiedMatching +OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:18317 semapv:UnspecifiedMatching +OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:NICN1 semapv:UnspecifiedMatching OMIM:611516 NICN1 skos:exactMatch ncbigene:84276 semapv:UnspecifiedMatching -OMIM:611517 CYP4F11 skos:exactMatch hgnc:CYP4F11 semapv:UnspecifiedMatching +OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:13265 semapv:UnspecifiedMatching +OMIM:611517 CYP4F11 skos:exactMatch hgnc.symbol:CYP4F11 semapv:UnspecifiedMatching OMIM:611517 CYP4F11 skos:exactMatch ncbigene:57834 semapv:UnspecifiedMatching -OMIM:611518 DOCK10 skos:exactMatch hgnc:DOCK10 semapv:UnspecifiedMatching +OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:23479 semapv:UnspecifiedMatching +OMIM:611518 DOCK10 skos:exactMatch hgnc.symbol:DOCK10 semapv:UnspecifiedMatching OMIM:611518 DOCK10 skos:exactMatch ncbigene:55619 semapv:UnspecifiedMatching -OMIM:611519 POLDIP2 skos:exactMatch hgnc:POLDIP2 semapv:UnspecifiedMatching +OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:23781 semapv:UnspecifiedMatching +OMIM:611519 POLDIP2 skos:exactMatch hgnc.symbol:POLDIP2 semapv:UnspecifiedMatching OMIM:611519 POLDIP2 skos:exactMatch ncbigene:26073 semapv:UnspecifiedMatching -OMIM:611520 POLDIP3 skos:exactMatch hgnc:POLDIP3 semapv:UnspecifiedMatching +OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:23782 semapv:UnspecifiedMatching +OMIM:611520 POLDIP3 skos:exactMatch hgnc.symbol:POLDIP3 semapv:UnspecifiedMatching OMIM:611520 POLDIP3 skos:exactMatch ncbigene:84271 semapv:UnspecifiedMatching -OMIM:611524 RARS2 skos:exactMatch hgnc:RARS2 semapv:UnspecifiedMatching +OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:21406 semapv:UnspecifiedMatching +OMIM:611524 RARS2 skos:exactMatch hgnc.symbol:RARS2 semapv:UnspecifiedMatching OMIM:611524 RARS2 skos:exactMatch ncbigene:57038 semapv:UnspecifiedMatching -OMIM:611525 POLD4 skos:exactMatch hgnc:POLD4 semapv:UnspecifiedMatching +OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:14106 semapv:UnspecifiedMatching +OMIM:611525 POLD4 skos:exactMatch hgnc.symbol:POLD4 semapv:UnspecifiedMatching OMIM:611525 POLD4 skos:exactMatch ncbigene:57804 semapv:UnspecifiedMatching -OMIM:611526 NOP14 skos:exactMatch hgnc:NOP14 semapv:UnspecifiedMatching +OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:16821 semapv:UnspecifiedMatching +OMIM:611526 NOP14 skos:exactMatch hgnc.symbol:NOP14 semapv:UnspecifiedMatching OMIM:611526 NOP14 skos:exactMatch ncbigene:8602 semapv:UnspecifiedMatching -OMIM:611527 NHEDC1 skos:exactMatch hgnc:SLC9B1 semapv:UnspecifiedMatching +OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:24244 semapv:UnspecifiedMatching +OMIM:611527 NHEDC1 skos:exactMatch hgnc.symbol:SLC9B1 semapv:UnspecifiedMatching OMIM:611527 NHEDC1 skos:exactMatch ncbigene:150159 semapv:UnspecifiedMatching -OMIM:611529 CYP2S1 skos:exactMatch hgnc:CYP2S1 semapv:UnspecifiedMatching +OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:15654 semapv:UnspecifiedMatching +OMIM:611529 CYP2S1 skos:exactMatch hgnc.symbol:CYP2S1 semapv:UnspecifiedMatching OMIM:611529 CYP2S1 skos:exactMatch ncbigene:29785 semapv:UnspecifiedMatching -OMIM:611530 NLN skos:exactMatch hgnc:NLN semapv:UnspecifiedMatching +OMIM:611530 NLN skos:exactMatch hgnc.symbol:16058 semapv:UnspecifiedMatching +OMIM:611530 NLN skos:exactMatch hgnc.symbol:NLN semapv:UnspecifiedMatching OMIM:611530 NLN skos:exactMatch ncbigene:57486 semapv:UnspecifiedMatching -OMIM:611531 EMG1 skos:exactMatch hgnc:EMG1 semapv:UnspecifiedMatching +OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:16912 semapv:UnspecifiedMatching +OMIM:611531 EMG1 skos:exactMatch hgnc.symbol:EMG1 semapv:UnspecifiedMatching OMIM:611531 EMG1 skos:exactMatch ncbigene:10436 semapv:UnspecifiedMatching -OMIM:611532 NOL6 skos:exactMatch hgnc:NOL6 semapv:UnspecifiedMatching +OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:19910 semapv:UnspecifiedMatching +OMIM:611532 NOL6 skos:exactMatch hgnc.symbol:NOL6 semapv:UnspecifiedMatching OMIM:611532 NOL6 skos:exactMatch ncbigene:65083 semapv:UnspecifiedMatching -OMIM:611533 NOL7 skos:exactMatch hgnc:NOL7 semapv:UnspecifiedMatching +OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:21040 semapv:UnspecifiedMatching +OMIM:611533 NOL7 skos:exactMatch hgnc.symbol:NOL7 semapv:UnspecifiedMatching OMIM:611533 NOL7 skos:exactMatch ncbigene:51406 semapv:UnspecifiedMatching -OMIM:611534 NOL8 skos:exactMatch hgnc:NOL8 semapv:UnspecifiedMatching +OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:23387 semapv:UnspecifiedMatching +OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:NOL8 semapv:UnspecifiedMatching OMIM:611534 NOL8 skos:exactMatch ncbigene:55035 semapv:UnspecifiedMatching -OMIM:611537 CTNNBL1 skos:exactMatch hgnc:CTNNBL1 semapv:UnspecifiedMatching +OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:15879 semapv:UnspecifiedMatching +OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:CTNNBL1 semapv:UnspecifiedMatching OMIM:611537 CTNNBL1 skos:exactMatch ncbigene:56259 semapv:UnspecifiedMatching -OMIM:611538 OR7D4 skos:exactMatch hgnc:OR7D4 semapv:UnspecifiedMatching +OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:8380 semapv:UnspecifiedMatching +OMIM:611538 OR7D4 skos:exactMatch hgnc.symbol:OR7D4 semapv:UnspecifiedMatching OMIM:611538 OR7D4 skos:exactMatch ncbigene:125958 semapv:UnspecifiedMatching -OMIM:611539 FOXD3 skos:exactMatch hgnc:FOXD3 semapv:UnspecifiedMatching +OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:3804 semapv:UnspecifiedMatching +OMIM:611539 FOXD3 skos:exactMatch hgnc.symbol:FOXD3 semapv:UnspecifiedMatching OMIM:611539 FOXD3 skos:exactMatch ncbigene:27022 semapv:UnspecifiedMatching -OMIM:611540 SGIP1 skos:exactMatch hgnc:SGIP1 semapv:UnspecifiedMatching +OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:25412 semapv:UnspecifiedMatching +OMIM:611540 SGIP1 skos:exactMatch hgnc.symbol:SGIP1 semapv:UnspecifiedMatching OMIM:611540 SGIP1 skos:exactMatch ncbigene:84251 semapv:UnspecifiedMatching -OMIM:611541 SNX27 skos:exactMatch hgnc:SNX27 semapv:UnspecifiedMatching +OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:20073 semapv:UnspecifiedMatching +OMIM:611541 SNX27 skos:exactMatch hgnc.symbol:SNX27 semapv:UnspecifiedMatching OMIM:611541 SNX27 skos:exactMatch ncbigene:81609 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C0026709 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C1412554 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C4017252 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C4017253 semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch UMLS:C4017254 semapv:UnspecifiedMatching -OMIM:611542 ARSB skos:exactMatch hgnc:ARSB semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch hgnc.symbol:714 semapv:UnspecifiedMatching +OMIM:611542 ARSB skos:exactMatch hgnc.symbol:ARSB semapv:UnspecifiedMatching OMIM:611542 ARSB skos:exactMatch ncbigene:411 semapv:UnspecifiedMatching -OMIM:611545 CYP4F8 skos:exactMatch hgnc:CYP4F8 semapv:UnspecifiedMatching +OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:2648 semapv:UnspecifiedMatching +OMIM:611545 CYP4F8 skos:exactMatch hgnc.symbol:CYP4F8 semapv:UnspecifiedMatching OMIM:611545 CYP4F8 skos:exactMatch ncbigene:11283 semapv:UnspecifiedMatching -OMIM:611546 ELOVL6 skos:exactMatch hgnc:ELOVL6 semapv:UnspecifiedMatching +OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:15829 semapv:UnspecifiedMatching +OMIM:611546 ELOVL6 skos:exactMatch hgnc.symbol:ELOVL6 semapv:UnspecifiedMatching OMIM:611546 ELOVL6 skos:exactMatch ncbigene:79071 semapv:UnspecifiedMatching -OMIM:611549 NALCN skos:exactMatch hgnc:NALCN semapv:UnspecifiedMatching +OMIM:611549 NALCN skos:exactMatch hgnc.symbol:19082 semapv:UnspecifiedMatching +OMIM:611549 NALCN skos:exactMatch hgnc.symbol:NALCN semapv:UnspecifiedMatching OMIM:611549 NALCN skos:exactMatch ncbigene:259232 semapv:UnspecifiedMatching -OMIM:611550 NCR3 skos:exactMatch hgnc:NCR3 semapv:UnspecifiedMatching +OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:19077 semapv:UnspecifiedMatching +OMIM:611550 NCR3 skos:exactMatch hgnc.symbol:NCR3 semapv:UnspecifiedMatching OMIM:611550 NCR3 skos:exactMatch ncbigene:259197 semapv:UnspecifiedMatching -OMIM:611551 FBLN7 skos:exactMatch hgnc:FBLN7 semapv:UnspecifiedMatching +OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:26740 semapv:UnspecifiedMatching +OMIM:611551 FBLN7 skos:exactMatch hgnc.symbol:FBLN7 semapv:UnspecifiedMatching OMIM:611551 FBLN7 skos:exactMatch ncbigene:129804 semapv:UnspecifiedMatching -OMIM:611552 NAPRT skos:exactMatch hgnc:NAPRT semapv:UnspecifiedMatching +OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:30450 semapv:UnspecifiedMatching +OMIM:611552 NAPRT skos:exactMatch hgnc.symbol:NAPRT semapv:UnspecifiedMatching OMIM:611552 NAPRT skos:exactMatch ncbigene:93100 semapv:UnspecifiedMatching +OMIM:611553 noonan syndrome 5 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:611553 noonan syndrome 5 skos:exactMatch UMLS:C1969057 semapv:UnspecifiedMatching -OMIM:611553 noonan syndrome 5 skos:exactMatch orphanet.ordo:648 semapv:UnspecifiedMatching OMIM:611555 renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies skos:exactMatch UMLS:C1969055 semapv:UnspecifiedMatching +OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch Orphanet:137625 semapv:UnspecifiedMatching OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch UMLS:C1969054 semapv:UnspecifiedMatching -OMIM:611556 glycogen storage disease 0, muscle skos:exactMatch orphanet.ordo:137625 semapv:UnspecifiedMatching -OMIM:611557 UPK1A skos:exactMatch hgnc:UPK1A semapv:UnspecifiedMatching +OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:12577 semapv:UnspecifiedMatching +OMIM:611557 UPK1A skos:exactMatch hgnc.symbol:UPK1A semapv:UnspecifiedMatching OMIM:611557 UPK1A skos:exactMatch ncbigene:11045 semapv:UnspecifiedMatching -OMIM:611558 UPK2 skos:exactMatch hgnc:UPK2 semapv:UnspecifiedMatching +OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:12579 semapv:UnspecifiedMatching +OMIM:611558 UPK2 skos:exactMatch hgnc.symbol:UPK2 semapv:UnspecifiedMatching OMIM:611558 UPK2 skos:exactMatch ncbigene:7379 semapv:UnspecifiedMatching -OMIM:611559 UPK3A skos:exactMatch hgnc:UPK3A semapv:UnspecifiedMatching +OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:12580 semapv:UnspecifiedMatching +OMIM:611559 UPK3A skos:exactMatch hgnc.symbol:UPK3A semapv:UnspecifiedMatching OMIM:611559 UPK3A skos:exactMatch ncbigene:7380 semapv:UnspecifiedMatching -OMIM:611562 SEPT12 skos:exactMatch hgnc:SEPTIN12 semapv:UnspecifiedMatching +OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:26348 semapv:UnspecifiedMatching +OMIM:611562 SEPT12 skos:exactMatch hgnc.symbol:SEPTIN12 semapv:UnspecifiedMatching OMIM:611562 SEPT12 skos:exactMatch ncbigene:124404 semapv:UnspecifiedMatching -OMIM:611563 SEPT13 skos:exactMatch hgnc:SEPTIN7P2 semapv:UnspecifiedMatching +OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:32339 semapv:UnspecifiedMatching +OMIM:611563 SEPT13 skos:exactMatch hgnc.symbol:SEPTIN7P2 semapv:UnspecifiedMatching OMIM:611563 SEPT13 skos:exactMatch ncbigene:641977 semapv:UnspecifiedMatching OMIM:611564 BANP skos:exactMatch UMLS:C1538317 semapv:UnspecifiedMatching -OMIM:611564 BANP skos:exactMatch hgnc:BANP semapv:UnspecifiedMatching +OMIM:611564 BANP skos:exactMatch hgnc.symbol:13450 semapv:UnspecifiedMatching +OMIM:611564 BANP skos:exactMatch hgnc.symbol:BANP semapv:UnspecifiedMatching OMIM:611564 BANP skos:exactMatch ncbigene:54971 semapv:UnspecifiedMatching -OMIM:611565 BLTP1 skos:exactMatch hgnc:BLTP1 semapv:UnspecifiedMatching +OMIM:611565 BLTP1 skos:exactMatch hgnc.symbol:BLTP1 semapv:UnspecifiedMatching OMIM:611565 BLTP1 skos:exactMatch ncbigene:84162 semapv:UnspecifiedMatching -OMIM:611566 PRPS1L1 skos:exactMatch hgnc:PRPS1L1 semapv:UnspecifiedMatching +OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:9463 semapv:UnspecifiedMatching +OMIM:611566 PRPS1L1 skos:exactMatch hgnc.symbol:PRPS1L1 semapv:UnspecifiedMatching OMIM:611566 PRPS1L1 skos:exactMatch ncbigene:221823 semapv:UnspecifiedMatching -OMIM:611567 MACROD2 skos:exactMatch hgnc:MACROD2 semapv:UnspecifiedMatching +OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:16126 semapv:UnspecifiedMatching +OMIM:611567 MACROD2 skos:exactMatch hgnc.symbol:MACROD2 semapv:UnspecifiedMatching OMIM:611567 MACROD2 skos:exactMatch ncbigene:140733 semapv:UnspecifiedMatching -OMIM:611568 SYBU skos:exactMatch hgnc:SYBU semapv:UnspecifiedMatching +OMIM:611568 SYBU skos:exactMatch hgnc.symbol:26011 semapv:UnspecifiedMatching +OMIM:611568 SYBU skos:exactMatch hgnc.symbol:SYBU semapv:UnspecifiedMatching OMIM:611568 SYBU skos:exactMatch ncbigene:55638 semapv:UnspecifiedMatching -OMIM:611569 CKAP2 skos:exactMatch hgnc:CKAP2 semapv:UnspecifiedMatching +OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:1990 semapv:UnspecifiedMatching +OMIM:611569 CKAP2 skos:exactMatch hgnc.symbol:CKAP2 semapv:UnspecifiedMatching OMIM:611569 CKAP2 skos:exactMatch ncbigene:26586 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch UMLS:C0016756 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch UMLS:C1414544 semapv:UnspecifiedMatching -OMIM:611570 FBP1 skos:exactMatch hgnc:FBP1 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:3606 semapv:UnspecifiedMatching +OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:FBP1 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch ncbigene:2203 semapv:UnspecifiedMatching -OMIM:611573 SGMS1 skos:exactMatch hgnc:SGMS1 semapv:UnspecifiedMatching +OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:29799 semapv:UnspecifiedMatching +OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:SGMS1 semapv:UnspecifiedMatching OMIM:611573 SGMS1 skos:exactMatch ncbigene:259230 semapv:UnspecifiedMatching -OMIM:611574 SGMS2 skos:exactMatch hgnc:SGMS2 semapv:UnspecifiedMatching +OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:28395 semapv:UnspecifiedMatching +OMIM:611574 SGMS2 skos:exactMatch hgnc.symbol:SGMS2 semapv:UnspecifiedMatching OMIM:611574 SGMS2 skos:exactMatch ncbigene:166929 semapv:UnspecifiedMatching -OMIM:611575 SAMD8 skos:exactMatch hgnc:SAMD8 semapv:UnspecifiedMatching +OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:26320 semapv:UnspecifiedMatching +OMIM:611575 SAMD8 skos:exactMatch hgnc.symbol:SAMD8 semapv:UnspecifiedMatching OMIM:611575 SAMD8 skos:exactMatch ncbigene:142891 semapv:UnspecifiedMatching -OMIM:611576 MIR10B skos:exactMatch hgnc:MIR10B semapv:UnspecifiedMatching +OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:31498 semapv:UnspecifiedMatching +OMIM:611576 MIR10B skos:exactMatch hgnc.symbol:MIR10B semapv:UnspecifiedMatching OMIM:611576 MIR10B skos:exactMatch ncbigene:406903 semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch UMLS:C1428772 semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch UMLS:C5193134 semapv:UnspecifiedMatching -OMIM:611577 KDM6B skos:exactMatch hgnc:KDM6B semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:29012 semapv:UnspecifiedMatching +OMIM:611577 KDM6B skos:exactMatch hgnc.symbol:KDM6B semapv:UnspecifiedMatching OMIM:611577 KDM6B skos:exactMatch ncbigene:23135 semapv:UnspecifiedMatching -OMIM:611578 FRRS1 skos:exactMatch hgnc:FRRS1 semapv:UnspecifiedMatching +OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:27622 semapv:UnspecifiedMatching +OMIM:611578 FRRS1 skos:exactMatch hgnc.symbol:FRRS1 semapv:UnspecifiedMatching OMIM:611578 FRRS1 skos:exactMatch ncbigene:391059 semapv:UnspecifiedMatching -OMIM:611579 TMEM114 skos:exactMatch hgnc:TMEM114 semapv:UnspecifiedMatching +OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:33227 semapv:UnspecifiedMatching +OMIM:611579 TMEM114 skos:exactMatch hgnc.symbol:TMEM114 semapv:UnspecifiedMatching OMIM:611579 TMEM114 skos:exactMatch ncbigene:283953 semapv:UnspecifiedMatching -OMIM:611580 EDDM3A skos:exactMatch hgnc:EDDM3A semapv:UnspecifiedMatching +OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:16978 semapv:UnspecifiedMatching +OMIM:611580 EDDM3A skos:exactMatch hgnc.symbol:EDDM3A semapv:UnspecifiedMatching OMIM:611580 EDDM3A skos:exactMatch ncbigene:10876 semapv:UnspecifiedMatching -OMIM:611582 FAM12B skos:exactMatch hgnc:EDDM3B semapv:UnspecifiedMatching +OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:19223 semapv:UnspecifiedMatching +OMIM:611582 FAM12B skos:exactMatch hgnc.symbol:EDDM3B semapv:UnspecifiedMatching OMIM:611582 FAM12B skos:exactMatch ncbigene:64184 semapv:UnspecifiedMatching -OMIM:611583 ARID5A skos:exactMatch hgnc:ARID5A semapv:UnspecifiedMatching +OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:17361 semapv:UnspecifiedMatching +OMIM:611583 ARID5A skos:exactMatch hgnc.symbol:ARID5A semapv:UnspecifiedMatching OMIM:611583 ARID5A skos:exactMatch ncbigene:10865 semapv:UnspecifiedMatching +OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:3440 semapv:UnspecifiedMatching +OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch Orphanet:895 semapv:UnspecifiedMatching OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch UMLS:C2700405 semapv:UnspecifiedMatching -OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch orphanet.ordo:3440 semapv:UnspecifiedMatching -OMIM:611584 waardenburg syndrome, iia 2e skos:exactMatch orphanet.ordo:895 semapv:UnspecifiedMatching OMIM:611585 TESC skos:exactMatch UMLS:C1823264 semapv:UnspecifiedMatching -OMIM:611585 TESC skos:exactMatch hgnc:TESC semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch hgnc.symbol:26065 semapv:UnspecifiedMatching +OMIM:611585 TESC skos:exactMatch hgnc.symbol:TESC semapv:UnspecifiedMatching OMIM:611585 TESC skos:exactMatch ncbigene:54997 semapv:UnspecifiedMatching -OMIM:611586 C1QL1 skos:exactMatch hgnc:C1QL1 semapv:UnspecifiedMatching +OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:24182 semapv:UnspecifiedMatching +OMIM:611586 C1QL1 skos:exactMatch hgnc.symbol:C1QL1 semapv:UnspecifiedMatching OMIM:611586 C1QL1 skos:exactMatch ncbigene:10882 semapv:UnspecifiedMatching -OMIM:611587 ARHGAP19 skos:exactMatch hgnc:ARHGAP19 semapv:UnspecifiedMatching +OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:23724 semapv:UnspecifiedMatching +OMIM:611587 ARHGAP19 skos:exactMatch hgnc.symbol:ARHGAP19 semapv:UnspecifiedMatching OMIM:611587 ARHGAP19 skos:exactMatch ncbigene:84986 semapv:UnspecifiedMatching +OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch Orphanet:206554 semapv:UnspecifiedMatching OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch UMLS:C1969040 semapv:UnspecifiedMatching -OMIM:611588 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 skos:exactMatch orphanet.ordo:206554 semapv:UnspecifiedMatching -OMIM:611589 PNPLA5 skos:exactMatch hgnc:PNPLA5 semapv:UnspecifiedMatching +OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:24888 semapv:UnspecifiedMatching +OMIM:611589 PNPLA5 skos:exactMatch hgnc.symbol:PNPLA5 semapv:UnspecifiedMatching OMIM:611589 PNPLA5 skos:exactMatch ncbigene:150379 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:18 semapv:UnspecifiedMatching +OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 semapv:UnspecifiedMatching OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch UMLS:C5436235 semapv:UnspecifiedMatching -OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch orphanet.ordo:18 semapv:UnspecifiedMatching -OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch orphanet.ordo:93610 semapv:UnspecifiedMatching -OMIM:611591 PPBPP2 skos:exactMatch hgnc:PPBPP2 semapv:UnspecifiedMatching +OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:16981 semapv:UnspecifiedMatching +OMIM:611591 PPBPP2 skos:exactMatch hgnc.symbol:PPBPP2 semapv:UnspecifiedMatching OMIM:611591 PPBPP2 skos:exactMatch ncbigene:10895 semapv:UnspecifiedMatching -OMIM:611592 FARS2 skos:exactMatch hgnc:FARS2 semapv:UnspecifiedMatching +OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:21062 semapv:UnspecifiedMatching +OMIM:611592 FARS2 skos:exactMatch hgnc.symbol:FARS2 semapv:UnspecifiedMatching OMIM:611592 FARS2 skos:exactMatch ncbigene:10667 semapv:UnspecifiedMatching -OMIM:611593 SMR3B skos:exactMatch hgnc:SMR3B semapv:UnspecifiedMatching +OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:17326 semapv:UnspecifiedMatching +OMIM:611593 SMR3B skos:exactMatch hgnc.symbol:SMR3B semapv:UnspecifiedMatching OMIM:611593 SMR3B skos:exactMatch ncbigene:10879 semapv:UnspecifiedMatching -OMIM:611594 USP39 skos:exactMatch hgnc:USP39 semapv:UnspecifiedMatching +OMIM:611594 USP39 skos:exactMatch hgnc.symbol:20071 semapv:UnspecifiedMatching +OMIM:611594 USP39 skos:exactMatch hgnc.symbol:USP39 semapv:UnspecifiedMatching OMIM:611594 USP39 skos:exactMatch ncbigene:10713 semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch UMLS:C1540140 semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch UMLS:C1837822 semapv:UnspecifiedMatching -OMIM:611595 TXNL4A skos:exactMatch hgnc:TXNL4A semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:30551 semapv:UnspecifiedMatching +OMIM:611595 TXNL4A skos:exactMatch hgnc.symbol:TXNL4A semapv:UnspecifiedMatching OMIM:611595 TXNL4A skos:exactMatch ncbigene:10907 semapv:UnspecifiedMatching -OMIM:611596 DHRS4 skos:exactMatch hgnc:DHRS4 semapv:UnspecifiedMatching +OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:16985 semapv:UnspecifiedMatching +OMIM:611596 DHRS4 skos:exactMatch hgnc.symbol:DHRS4 semapv:UnspecifiedMatching OMIM:611596 DHRS4 skos:exactMatch ncbigene:10901 semapv:UnspecifiedMatching +OMIM:611597 cataract 12, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:611597 cataract 12, multiple types skos:exactMatch UMLS:C3808115 semapv:UnspecifiedMatching -OMIM:611597 cataract 12, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:611599 MIR206 skos:exactMatch hgnc:MIR206 semapv:UnspecifiedMatching +OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:31584 semapv:UnspecifiedMatching +OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:MIR206 semapv:UnspecifiedMatching OMIM:611599 MIR206 skos:exactMatch ncbigene:406989 semapv:UnspecifiedMatching -OMIM:611600 RIMS3 skos:exactMatch hgnc:RIMS3 semapv:UnspecifiedMatching +OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:21292 semapv:UnspecifiedMatching +OMIM:611600 RIMS3 skos:exactMatch hgnc.symbol:RIMS3 semapv:UnspecifiedMatching OMIM:611600 RIMS3 skos:exactMatch ncbigene:9783 semapv:UnspecifiedMatching -OMIM:611601 RIMS4 skos:exactMatch hgnc:RIMS4 semapv:UnspecifiedMatching +OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:16183 semapv:UnspecifiedMatching +OMIM:611601 RIMS4 skos:exactMatch hgnc.symbol:RIMS4 semapv:UnspecifiedMatching OMIM:611601 RIMS4 skos:exactMatch ncbigene:140730 semapv:UnspecifiedMatching -OMIM:611602 RIMBP2 skos:exactMatch hgnc:RIMBP2 semapv:UnspecifiedMatching +OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:30339 semapv:UnspecifiedMatching +OMIM:611602 RIMBP2 skos:exactMatch hgnc.symbol:RIMBP2 semapv:UnspecifiedMatching OMIM:611602 RIMBP2 skos:exactMatch ncbigene:23504 semapv:UnspecifiedMatching -OMIM:611604 ERLIN1 skos:exactMatch hgnc:ERLIN1 semapv:UnspecifiedMatching +OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:16947 semapv:UnspecifiedMatching +OMIM:611604 ERLIN1 skos:exactMatch hgnc.symbol:ERLIN1 semapv:UnspecifiedMatching OMIM:611604 ERLIN1 skos:exactMatch ncbigene:10613 semapv:UnspecifiedMatching -OMIM:611605 ERLIN2 skos:exactMatch hgnc:ERLIN2 semapv:UnspecifiedMatching +OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:1356 semapv:UnspecifiedMatching +OMIM:611605 ERLIN2 skos:exactMatch hgnc.symbol:ERLIN2 semapv:UnspecifiedMatching OMIM:611605 ERLIN2 skos:exactMatch ncbigene:11160 semapv:UnspecifiedMatching -OMIM:611606 MIR96 skos:exactMatch hgnc:MIR96 semapv:UnspecifiedMatching +OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:31648 semapv:UnspecifiedMatching +OMIM:611606 MIR96 skos:exactMatch hgnc.symbol:MIR96 semapv:UnspecifiedMatching OMIM:611606 MIR96 skos:exactMatch ncbigene:407053 semapv:UnspecifiedMatching -OMIM:611607 MIR182 skos:exactMatch hgnc:MIR182 semapv:UnspecifiedMatching +OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:31553 semapv:UnspecifiedMatching +OMIM:611607 MIR182 skos:exactMatch hgnc.symbol:MIR182 semapv:UnspecifiedMatching OMIM:611607 MIR182 skos:exactMatch ncbigene:406958 semapv:UnspecifiedMatching -OMIM:611608 MIR183 skos:exactMatch hgnc:MIR183 semapv:UnspecifiedMatching +OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:31554 semapv:UnspecifiedMatching +OMIM:611608 MIR183 skos:exactMatch hgnc.symbol:MIR183 semapv:UnspecifiedMatching OMIM:611608 MIR183 skos:exactMatch ncbigene:406959 semapv:UnspecifiedMatching -OMIM:611609 SIPA1L2 skos:exactMatch hgnc:SIPA1L2 semapv:UnspecifiedMatching +OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:23800 semapv:UnspecifiedMatching +OMIM:611609 SIPA1L2 skos:exactMatch hgnc.symbol:SIPA1L2 semapv:UnspecifiedMatching OMIM:611609 SIPA1L2 skos:exactMatch ncbigene:57568 semapv:UnspecifiedMatching -OMIM:611610 PGM2L1 skos:exactMatch hgnc:PGM2L1 semapv:UnspecifiedMatching +OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:20898 semapv:UnspecifiedMatching +OMIM:611610 PGM2L1 skos:exactMatch hgnc.symbol:PGM2L1 semapv:UnspecifiedMatching OMIM:611610 PGM2L1 skos:exactMatch ncbigene:283209 semapv:UnspecifiedMatching -OMIM:611611 SCAPER skos:exactMatch hgnc:SCAPER semapv:UnspecifiedMatching +OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:13081 semapv:UnspecifiedMatching +OMIM:611611 SCAPER skos:exactMatch hgnc.symbol:SCAPER semapv:UnspecifiedMatching OMIM:611611 SCAPER skos:exactMatch ncbigene:49855 semapv:UnspecifiedMatching -OMIM:611612 THTPA skos:exactMatch hgnc:THTPA semapv:UnspecifiedMatching +OMIM:611612 THTPA skos:exactMatch hgnc.symbol:18987 semapv:UnspecifiedMatching +OMIM:611612 THTPA skos:exactMatch hgnc.symbol:THTPA semapv:UnspecifiedMatching OMIM:611612 THTPA skos:exactMatch ncbigene:79178 semapv:UnspecifiedMatching -OMIM:611613 POGLUT2 skos:exactMatch hgnc:POGLUT2 semapv:UnspecifiedMatching +OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:19350 semapv:UnspecifiedMatching +OMIM:611613 POGLUT2 skos:exactMatch hgnc.symbol:POGLUT2 semapv:UnspecifiedMatching OMIM:611613 POGLUT2 skos:exactMatch ncbigene:79070 semapv:UnspecifiedMatching OMIM:611614 UTP3 skos:exactMatch UMLS:C1969026 semapv:UnspecifiedMatching -OMIM:611614 UTP3 skos:exactMatch hgnc:UTP3 semapv:UnspecifiedMatching +OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:24477 semapv:UnspecifiedMatching +OMIM:611614 UTP3 skos:exactMatch hgnc.symbol:UTP3 semapv:UnspecifiedMatching OMIM:611614 UTP3 skos:exactMatch ncbigene:57050 semapv:UnspecifiedMatching -OMIM:611616 NADK skos:exactMatch hgnc:NADK semapv:UnspecifiedMatching +OMIM:611616 NADK skos:exactMatch hgnc.symbol:29831 semapv:UnspecifiedMatching +OMIM:611616 NADK skos:exactMatch hgnc.symbol:NADK semapv:UnspecifiedMatching OMIM:611616 NADK skos:exactMatch ncbigene:65220 semapv:UnspecifiedMatching -OMIM:611617 EFHD1 skos:exactMatch hgnc:EFHD1 semapv:UnspecifiedMatching +OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:29556 semapv:UnspecifiedMatching +OMIM:611617 EFHD1 skos:exactMatch hgnc.symbol:EFHD1 semapv:UnspecifiedMatching OMIM:611617 EFHD1 skos:exactMatch ncbigene:80303 semapv:UnspecifiedMatching -OMIM:611619 MIR877 skos:exactMatch hgnc:MIR877 semapv:UnspecifiedMatching +OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:33660 semapv:UnspecifiedMatching +OMIM:611619 MIR877 skos:exactMatch hgnc.symbol:MIR877 semapv:UnspecifiedMatching OMIM:611619 MIR877 skos:exactMatch ncbigene:100126314 semapv:UnspecifiedMatching -OMIM:611620 MIR1224 skos:exactMatch hgnc:MIR1224 semapv:UnspecifiedMatching +OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:33923 semapv:UnspecifiedMatching +OMIM:611620 MIR1224 skos:exactMatch hgnc.symbol:MIR1224 semapv:UnspecifiedMatching OMIM:611620 MIR1224 skos:exactMatch ncbigene:100187716 semapv:UnspecifiedMatching -OMIM:611621 MIR1225 skos:exactMatch hgnc:MIR1225 semapv:UnspecifiedMatching +OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:33931 semapv:UnspecifiedMatching +OMIM:611621 MIR1225 skos:exactMatch hgnc.symbol:MIR1225 semapv:UnspecifiedMatching OMIM:611621 MIR1225 skos:exactMatch ncbigene:100188847 semapv:UnspecifiedMatching -OMIM:611622 IQCJ skos:exactMatch hgnc:IQCJ semapv:UnspecifiedMatching +OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:32406 semapv:UnspecifiedMatching +OMIM:611622 IQCJ skos:exactMatch hgnc.symbol:IQCJ semapv:UnspecifiedMatching OMIM:611622 IQCJ skos:exactMatch ncbigene:654502 semapv:UnspecifiedMatching OMIM:611623 NECAP1 skos:exactMatch UMLS:C1826394 semapv:UnspecifiedMatching OMIM:611623 NECAP1 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching -OMIM:611623 NECAP1 skos:exactMatch hgnc:NECAP1 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:24539 semapv:UnspecifiedMatching +OMIM:611623 NECAP1 skos:exactMatch hgnc.symbol:NECAP1 semapv:UnspecifiedMatching OMIM:611623 NECAP1 skos:exactMatch ncbigene:25977 semapv:UnspecifiedMatching -OMIM:611624 NECAP2 skos:exactMatch hgnc:NECAP2 semapv:UnspecifiedMatching +OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:25528 semapv:UnspecifiedMatching +OMIM:611624 NECAP2 skos:exactMatch hgnc.symbol:NECAP2 semapv:UnspecifiedMatching OMIM:611624 NECAP2 skos:exactMatch ncbigene:55707 semapv:UnspecifiedMatching -OMIM:611625 GID8 skos:exactMatch hgnc:GID8 semapv:UnspecifiedMatching +OMIM:611625 GID8 skos:exactMatch hgnc.symbol:15857 semapv:UnspecifiedMatching +OMIM:611625 GID8 skos:exactMatch hgnc.symbol:GID8 semapv:UnspecifiedMatching OMIM:611625 GID8 skos:exactMatch ncbigene:54994 semapv:UnspecifiedMatching -OMIM:611626 MPHOSPH8 skos:exactMatch hgnc:MPHOSPH8 semapv:UnspecifiedMatching +OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:29810 semapv:UnspecifiedMatching +OMIM:611626 MPHOSPH8 skos:exactMatch hgnc.symbol:MPHOSPH8 semapv:UnspecifiedMatching OMIM:611626 MPHOSPH8 skos:exactMatch ncbigene:54737 semapv:UnspecifiedMatching -OMIM:611627 TLCD3A skos:exactMatch hgnc:TLCD3A semapv:UnspecifiedMatching +OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:29646 semapv:UnspecifiedMatching +OMIM:611627 TLCD3A skos:exactMatch hgnc.symbol:TLCD3A semapv:UnspecifiedMatching OMIM:611627 TLCD3A skos:exactMatch ncbigene:79850 semapv:UnspecifiedMatching -OMIM:611628 NAV1 skos:exactMatch hgnc:NAV1 semapv:UnspecifiedMatching +OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:15989 semapv:UnspecifiedMatching +OMIM:611628 NAV1 skos:exactMatch hgnc.symbol:NAV1 semapv:UnspecifiedMatching OMIM:611628 NAV1 skos:exactMatch ncbigene:89796 semapv:UnspecifiedMatching -OMIM:611629 NAV3 skos:exactMatch hgnc:NAV3 semapv:UnspecifiedMatching +OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:15998 semapv:UnspecifiedMatching +OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:NAV3 semapv:UnspecifiedMatching OMIM:611629 NAV3 skos:exactMatch ncbigene:89795 semapv:UnspecifiedMatching -OMIM:611632 UBIAD1 skos:exactMatch hgnc:UBIAD1 semapv:UnspecifiedMatching +OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:30791 semapv:UnspecifiedMatching +OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:UBIAD1 semapv:UnspecifiedMatching OMIM:611632 UBIAD1 skos:exactMatch ncbigene:29914 semapv:UnspecifiedMatching -OMIM:611633 RTF1 skos:exactMatch hgnc:RTF1 semapv:UnspecifiedMatching +OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:28996 semapv:UnspecifiedMatching +OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:RTF1 semapv:UnspecifiedMatching OMIM:611633 RTF1 skos:exactMatch ncbigene:23168 semapv:UnspecifiedMatching -OMIM:611635 NEUROD4 skos:exactMatch hgnc:NEUROD4 semapv:UnspecifiedMatching +OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:13802 semapv:UnspecifiedMatching +OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:NEUROD4 semapv:UnspecifiedMatching OMIM:611635 NEUROD4 skos:exactMatch ncbigene:58158 semapv:UnspecifiedMatching -OMIM:611636 NAALAD2 skos:exactMatch hgnc:NAALAD2 semapv:UnspecifiedMatching +OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:14526 semapv:UnspecifiedMatching +OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:NAALAD2 semapv:UnspecifiedMatching OMIM:611636 NAALAD2 skos:exactMatch ncbigene:10003 semapv:UnspecifiedMatching OMIM:611639 ZGLP1 skos:exactMatch UMLS:C1999257 semapv:UnspecifiedMatching -OMIM:611639 ZGLP1 skos:exactMatch hgnc:ZGLP1 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:37245 semapv:UnspecifiedMatching +OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:ZGLP1 semapv:UnspecifiedMatching OMIM:611639 ZGLP1 skos:exactMatch ncbigene:100125288 semapv:UnspecifiedMatching -OMIM:611640 FANK1 skos:exactMatch hgnc:FANK1 semapv:UnspecifiedMatching +OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:23527 semapv:UnspecifiedMatching +OMIM:611640 FANK1 skos:exactMatch hgnc.symbol:FANK1 semapv:UnspecifiedMatching OMIM:611640 FANK1 skos:exactMatch ncbigene:92565 semapv:UnspecifiedMatching -OMIM:611641 HEPN1 skos:exactMatch hgnc:HEPN1 semapv:UnspecifiedMatching +OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:34400 semapv:UnspecifiedMatching +OMIM:611641 HEPN1 skos:exactMatch hgnc.symbol:HEPN1 semapv:UnspecifiedMatching OMIM:611641 HEPN1 skos:exactMatch ncbigene:641654 semapv:UnspecifiedMatching -OMIM:611642 HEPACAM skos:exactMatch hgnc:HEPACAM semapv:UnspecifiedMatching +OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:26361 semapv:UnspecifiedMatching +OMIM:611642 HEPACAM skos:exactMatch hgnc.symbol:HEPACAM semapv:UnspecifiedMatching OMIM:611642 HEPACAM skos:exactMatch ncbigene:220296 semapv:UnspecifiedMatching -OMIM:611643 ZKSCAN4 skos:exactMatch hgnc:ZKSCAN4 semapv:UnspecifiedMatching +OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:13854 semapv:UnspecifiedMatching +OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:ZKSCAN4 semapv:UnspecifiedMatching OMIM:611643 ZKSCAN4 skos:exactMatch ncbigene:387032 semapv:UnspecifiedMatching -OMIM:611645 CXXC4 skos:exactMatch hgnc:CXXC4 semapv:UnspecifiedMatching +OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:24593 semapv:UnspecifiedMatching +OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:CXXC4 semapv:UnspecifiedMatching OMIM:611645 CXXC4 skos:exactMatch ncbigene:80319 semapv:UnspecifiedMatching -OMIM:611646 SPHKAP skos:exactMatch hgnc:SPHKAP semapv:UnspecifiedMatching +OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:30619 semapv:UnspecifiedMatching +OMIM:611646 SPHKAP skos:exactMatch hgnc.symbol:SPHKAP semapv:UnspecifiedMatching OMIM:611646 SPHKAP skos:exactMatch ncbigene:80309 semapv:UnspecifiedMatching OMIM:611647 ARV1 skos:exactMatch UMLS:C1540200 semapv:UnspecifiedMatching OMIM:611647 ARV1 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching -OMIM:611647 ARV1 skos:exactMatch hgnc:ARV1 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:29561 semapv:UnspecifiedMatching +OMIM:611647 ARV1 skos:exactMatch hgnc.symbol:ARV1 semapv:UnspecifiedMatching OMIM:611647 ARV1 skos:exactMatch ncbigene:64801 semapv:UnspecifiedMatching -OMIM:611648 PPIP5K2 skos:exactMatch hgnc:PPIP5K2 semapv:UnspecifiedMatching +OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:29035 semapv:UnspecifiedMatching +OMIM:611648 PPIP5K2 skos:exactMatch hgnc.symbol:PPIP5K2 semapv:UnspecifiedMatching OMIM:611648 PPIP5K2 skos:exactMatch ncbigene:23262 semapv:UnspecifiedMatching -OMIM:611649 MINDY3 skos:exactMatch hgnc:MINDY3 semapv:UnspecifiedMatching +OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:23578 semapv:UnspecifiedMatching +OMIM:611649 MINDY3 skos:exactMatch hgnc.symbol:MINDY3 semapv:UnspecifiedMatching OMIM:611649 MINDY3 skos:exactMatch ncbigene:80013 semapv:UnspecifiedMatching -OMIM:611651 PLA2G3 skos:exactMatch hgnc:PLA2G3 semapv:UnspecifiedMatching +OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:17934 semapv:UnspecifiedMatching +OMIM:611651 PLA2G3 skos:exactMatch hgnc.symbol:PLA2G3 semapv:UnspecifiedMatching OMIM:611651 PLA2G3 skos:exactMatch ncbigene:50487 semapv:UnspecifiedMatching -OMIM:611652 PLA2G12A skos:exactMatch hgnc:PLA2G12A semapv:UnspecifiedMatching +OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:18554 semapv:UnspecifiedMatching +OMIM:611652 PLA2G12A skos:exactMatch hgnc.symbol:PLA2G12A semapv:UnspecifiedMatching OMIM:611652 PLA2G12A skos:exactMatch ncbigene:81579 semapv:UnspecifiedMatching -OMIM:611653 PLA2G12B skos:exactMatch hgnc:PLA2G12B semapv:UnspecifiedMatching +OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:18555 semapv:UnspecifiedMatching +OMIM:611653 PLA2G12B skos:exactMatch hgnc.symbol:PLA2G12B semapv:UnspecifiedMatching OMIM:611653 PLA2G12B skos:exactMatch ncbigene:84647 semapv:UnspecifiedMatching -OMIM:611654 CSPP1 skos:exactMatch hgnc:CSPP1 semapv:UnspecifiedMatching +OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:26193 semapv:UnspecifiedMatching +OMIM:611654 CSPP1 skos:exactMatch hgnc.symbol:CSPP1 semapv:UnspecifiedMatching OMIM:611654 CSPP1 skos:exactMatch ncbigene:79848 semapv:UnspecifiedMatching -OMIM:611655 PGAP1 skos:exactMatch hgnc:PGAP1 semapv:UnspecifiedMatching +OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:25712 semapv:UnspecifiedMatching +OMIM:611655 PGAP1 skos:exactMatch hgnc.symbol:PGAP1 semapv:UnspecifiedMatching OMIM:611655 PGAP1 skos:exactMatch ncbigene:80055 semapv:UnspecifiedMatching -OMIM:611656 SIKE1 skos:exactMatch hgnc:SIKE1 semapv:UnspecifiedMatching +OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:26119 semapv:UnspecifiedMatching +OMIM:611656 SIKE1 skos:exactMatch hgnc.symbol:SIKE1 semapv:UnspecifiedMatching OMIM:611656 SIKE1 skos:exactMatch ncbigene:80143 semapv:UnspecifiedMatching -OMIM:611657 SPSB1 skos:exactMatch hgnc:SPSB1 semapv:UnspecifiedMatching +OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:30628 semapv:UnspecifiedMatching +OMIM:611657 SPSB1 skos:exactMatch hgnc.symbol:SPSB1 semapv:UnspecifiedMatching OMIM:611657 SPSB1 skos:exactMatch ncbigene:80176 semapv:UnspecifiedMatching -OMIM:611658 SPSB2 skos:exactMatch hgnc:SPSB2 semapv:UnspecifiedMatching +OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:29522 semapv:UnspecifiedMatching +OMIM:611658 SPSB2 skos:exactMatch hgnc.symbol:SPSB2 semapv:UnspecifiedMatching OMIM:611658 SPSB2 skos:exactMatch ncbigene:84727 semapv:UnspecifiedMatching -OMIM:611659 SPSB3 skos:exactMatch hgnc:SPSB3 semapv:UnspecifiedMatching +OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:30629 semapv:UnspecifiedMatching +OMIM:611659 SPSB3 skos:exactMatch hgnc.symbol:SPSB3 semapv:UnspecifiedMatching OMIM:611659 SPSB3 skos:exactMatch ncbigene:90864 semapv:UnspecifiedMatching -OMIM:611660 SPSB4 skos:exactMatch hgnc:SPSB4 semapv:UnspecifiedMatching +OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:30630 semapv:UnspecifiedMatching +OMIM:611660 SPSB4 skos:exactMatch hgnc.symbol:SPSB4 semapv:UnspecifiedMatching OMIM:611660 SPSB4 skos:exactMatch ncbigene:92369 semapv:UnspecifiedMatching -OMIM:611661 DBF4B skos:exactMatch hgnc:DBF4B semapv:UnspecifiedMatching +OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:17883 semapv:UnspecifiedMatching +OMIM:611661 DBF4B skos:exactMatch hgnc.symbol:DBF4B semapv:UnspecifiedMatching OMIM:611661 DBF4B skos:exactMatch ncbigene:80174 semapv:UnspecifiedMatching -OMIM:611662 EGOT skos:exactMatch hgnc:EGOT semapv:UnspecifiedMatching +OMIM:611662 EGOT skos:exactMatch hgnc.symbol:37129 semapv:UnspecifiedMatching +OMIM:611662 EGOT skos:exactMatch hgnc.symbol:EGOT semapv:UnspecifiedMatching OMIM:611662 EGOT skos:exactMatch ncbigene:100126791 semapv:UnspecifiedMatching -OMIM:611663 TBC1D20 skos:exactMatch hgnc:TBC1D20 semapv:UnspecifiedMatching +OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:16133 semapv:UnspecifiedMatching +OMIM:611663 TBC1D20 skos:exactMatch hgnc.symbol:TBC1D20 semapv:UnspecifiedMatching OMIM:611663 TBC1D20 skos:exactMatch ncbigene:128637 semapv:UnspecifiedMatching OMIM:611665 DDX54 skos:exactMatch UMLS:C1426670 semapv:UnspecifiedMatching -OMIM:611665 DDX54 skos:exactMatch hgnc:DDX54 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:20084 semapv:UnspecifiedMatching +OMIM:611665 DDX54 skos:exactMatch hgnc.symbol:DDX54 semapv:UnspecifiedMatching OMIM:611665 DDX54 skos:exactMatch ncbigene:79039 semapv:UnspecifiedMatching -OMIM:611666 PLPP6 skos:exactMatch hgnc:PLPP6 semapv:UnspecifiedMatching +OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:23682 semapv:UnspecifiedMatching +OMIM:611666 PLPP6 skos:exactMatch hgnc.symbol:PLPP6 semapv:UnspecifiedMatching OMIM:611666 PLPP6 skos:exactMatch ncbigene:403313 semapv:UnspecifiedMatching -OMIM:611667 SPATS2 skos:exactMatch hgnc:SPATS2 semapv:UnspecifiedMatching +OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:18650 semapv:UnspecifiedMatching +OMIM:611667 SPATS2 skos:exactMatch hgnc.symbol:SPATS2 semapv:UnspecifiedMatching OMIM:611667 SPATS2 skos:exactMatch ncbigene:65244 semapv:UnspecifiedMatching -OMIM:611668 CORO7 skos:exactMatch hgnc:CORO7 semapv:UnspecifiedMatching +OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:26161 semapv:UnspecifiedMatching +OMIM:611668 CORO7 skos:exactMatch hgnc.symbol:CORO7 semapv:UnspecifiedMatching OMIM:611668 CORO7 skos:exactMatch ncbigene:79585 semapv:UnspecifiedMatching -OMIM:611669 TRMT1 skos:exactMatch hgnc:TRMT1 semapv:UnspecifiedMatching +OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:25980 semapv:UnspecifiedMatching +OMIM:611669 TRMT1 skos:exactMatch hgnc.symbol:TRMT1 semapv:UnspecifiedMatching OMIM:611669 TRMT1 skos:exactMatch ncbigene:55621 semapv:UnspecifiedMatching -OMIM:611670 ISYNA1 skos:exactMatch hgnc:ISYNA1 semapv:UnspecifiedMatching +OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:29821 semapv:UnspecifiedMatching +OMIM:611670 ISYNA1 skos:exactMatch hgnc.symbol:ISYNA1 semapv:UnspecifiedMatching OMIM:611670 ISYNA1 skos:exactMatch ncbigene:51477 semapv:UnspecifiedMatching -OMIM:611671 PIGZ skos:exactMatch hgnc:PIGZ semapv:UnspecifiedMatching +OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:30596 semapv:UnspecifiedMatching +OMIM:611671 PIGZ skos:exactMatch hgnc.symbol:PIGZ semapv:UnspecifiedMatching OMIM:611671 PIGZ skos:exactMatch ncbigene:80235 semapv:UnspecifiedMatching -OMIM:611672 SLC46A1 skos:exactMatch hgnc:SLC46A1 semapv:UnspecifiedMatching +OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:30521 semapv:UnspecifiedMatching +OMIM:611672 SLC46A1 skos:exactMatch hgnc.symbol:SLC46A1 semapv:UnspecifiedMatching OMIM:611672 SLC46A1 skos:exactMatch ncbigene:113235 semapv:UnspecifiedMatching -OMIM:611673 TRMT1L skos:exactMatch hgnc:TRMT1L semapv:UnspecifiedMatching +OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:16782 semapv:UnspecifiedMatching +OMIM:611673 TRMT1L skos:exactMatch hgnc.symbol:TRMT1L semapv:UnspecifiedMatching OMIM:611673 TRMT1L skos:exactMatch ncbigene:81627 semapv:UnspecifiedMatching -OMIM:611674 XKR3 skos:exactMatch hgnc:XKR3 semapv:UnspecifiedMatching +OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:28778 semapv:UnspecifiedMatching +OMIM:611674 XKR3 skos:exactMatch hgnc.symbol:XKR3 semapv:UnspecifiedMatching OMIM:611674 XKR3 skos:exactMatch ncbigene:150165 semapv:UnspecifiedMatching -OMIM:611675 KIAA0513 skos:exactMatch hgnc:KIAA0513 semapv:UnspecifiedMatching +OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:29058 semapv:UnspecifiedMatching +OMIM:611675 KIAA0513 skos:exactMatch hgnc.symbol:KIAA0513 semapv:UnspecifiedMatching OMIM:611675 KIAA0513 skos:exactMatch ncbigene:9764 semapv:UnspecifiedMatching OMIM:611676 PDCL2 skos:exactMatch UMLS:C1428867 semapv:UnspecifiedMatching -OMIM:611676 PDCL2 skos:exactMatch hgnc:PDCL2 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:29524 semapv:UnspecifiedMatching +OMIM:611676 PDCL2 skos:exactMatch hgnc.symbol:PDCL2 semapv:UnspecifiedMatching OMIM:611676 PDCL2 skos:exactMatch ncbigene:132954 semapv:UnspecifiedMatching -OMIM:611677 OR13G1 skos:exactMatch hgnc:OR13G1 semapv:UnspecifiedMatching +OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:14999 semapv:UnspecifiedMatching +OMIM:611677 OR13G1 skos:exactMatch hgnc.symbol:OR13G1 semapv:UnspecifiedMatching OMIM:611677 OR13G1 skos:exactMatch ncbigene:441933 semapv:UnspecifiedMatching -OMIM:611678 PDCL3 skos:exactMatch hgnc:PDCL3 semapv:UnspecifiedMatching +OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:28860 semapv:UnspecifiedMatching +OMIM:611678 PDCL3 skos:exactMatch hgnc.symbol:PDCL3 semapv:UnspecifiedMatching OMIM:611678 PDCL3 skos:exactMatch ncbigene:79031 semapv:UnspecifiedMatching -OMIM:611679 FBXW10 skos:exactMatch hgnc:FBXW10 semapv:UnspecifiedMatching +OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:1211 semapv:UnspecifiedMatching +OMIM:611679 FBXW10 skos:exactMatch hgnc.symbol:FBXW10 semapv:UnspecifiedMatching OMIM:611679 FBXW10 skos:exactMatch ncbigene:10517 semapv:UnspecifiedMatching -OMIM:611680 C1ORF116 skos:exactMatch hgnc:C1orf116 semapv:UnspecifiedMatching +OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:28667 semapv:UnspecifiedMatching +OMIM:611680 C1ORF116 skos:exactMatch hgnc.symbol:C1orf116 semapv:UnspecifiedMatching OMIM:611680 C1ORF116 skos:exactMatch ncbigene:79098 semapv:UnspecifiedMatching -OMIM:611681 ADAMTS20 skos:exactMatch hgnc:ADAMTS20 semapv:UnspecifiedMatching +OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:17178 semapv:UnspecifiedMatching +OMIM:611681 ADAMTS20 skos:exactMatch hgnc.symbol:ADAMTS20 semapv:UnspecifiedMatching OMIM:611681 ADAMTS20 skos:exactMatch ncbigene:80070 semapv:UnspecifiedMatching -OMIM:611682 LPAL2 skos:exactMatch hgnc:LPAL2 semapv:UnspecifiedMatching +OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:21210 semapv:UnspecifiedMatching +OMIM:611682 LPAL2 skos:exactMatch hgnc.symbol:LPAL2 semapv:UnspecifiedMatching OMIM:611682 LPAL2 skos:exactMatch ncbigene:80350 semapv:UnspecifiedMatching -OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc:FN3KRP semapv:UnspecifiedMatching +OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:25700 semapv:UnspecifiedMatching +OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch hgnc.symbol:FN3KRP semapv:UnspecifiedMatching OMIM:611683 fructosamine 3-kinase-related protein skos:exactMatch ncbigene:79672 semapv:UnspecifiedMatching OMIM:611684 SART3 skos:exactMatch UMLS:C1424600 semapv:UnspecifiedMatching OMIM:611684 SART3 skos:exactMatch UMLS:C4015968 semapv:UnspecifiedMatching -OMIM:611684 SART3 skos:exactMatch hgnc:SART3 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch hgnc.symbol:16860 semapv:UnspecifiedMatching +OMIM:611684 SART3 skos:exactMatch hgnc.symbol:SART3 semapv:UnspecifiedMatching OMIM:611684 SART3 skos:exactMatch ncbigene:9733 semapv:UnspecifiedMatching -OMIM:611685 RNF8 skos:exactMatch hgnc:RNF8 semapv:UnspecifiedMatching +OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:10071 semapv:UnspecifiedMatching +OMIM:611685 RNF8 skos:exactMatch hgnc.symbol:RNF8 semapv:UnspecifiedMatching OMIM:611685 RNF8 skos:exactMatch ncbigene:9025 semapv:UnspecifiedMatching -OMIM:611686 CASD1 skos:exactMatch hgnc:CASD1 semapv:UnspecifiedMatching +OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:16014 semapv:UnspecifiedMatching +OMIM:611686 CASD1 skos:exactMatch hgnc.symbol:CASD1 semapv:UnspecifiedMatching OMIM:611686 CASD1 skos:exactMatch ncbigene:64921 semapv:UnspecifiedMatching -OMIM:611687 KHDC3L skos:exactMatch hgnc:KHDC3L semapv:UnspecifiedMatching +OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:33699 semapv:UnspecifiedMatching +OMIM:611687 KHDC3L skos:exactMatch hgnc.symbol:KHDC3L semapv:UnspecifiedMatching OMIM:611687 KHDC3L skos:exactMatch ncbigene:154288 semapv:UnspecifiedMatching -OMIM:611688 KHDC1 skos:exactMatch hgnc:KHDC1 semapv:UnspecifiedMatching +OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:21366 semapv:UnspecifiedMatching +OMIM:611688 KHDC1 skos:exactMatch hgnc.symbol:KHDC1 semapv:UnspecifiedMatching OMIM:611688 KHDC1 skos:exactMatch ncbigene:80759 semapv:UnspecifiedMatching -OMIM:611689 OOEP skos:exactMatch hgnc:OOEP semapv:UnspecifiedMatching +OMIM:611689 OOEP skos:exactMatch hgnc.symbol:21382 semapv:UnspecifiedMatching +OMIM:611689 OOEP skos:exactMatch hgnc.symbol:OOEP semapv:UnspecifiedMatching OMIM:611689 OOEP skos:exactMatch ncbigene:441161 semapv:UnspecifiedMatching -OMIM:611690 PRRG4 skos:exactMatch hgnc:PRRG4 semapv:UnspecifiedMatching +OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:30799 semapv:UnspecifiedMatching +OMIM:611690 PRRG4 skos:exactMatch hgnc.symbol:PRRG4 semapv:UnspecifiedMatching OMIM:611690 PRRG4 skos:exactMatch ncbigene:79056 semapv:UnspecifiedMatching -OMIM:611691 SVEP1 skos:exactMatch hgnc:SVEP1 semapv:UnspecifiedMatching +OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:15985 semapv:UnspecifiedMatching +OMIM:611691 SVEP1 skos:exactMatch hgnc.symbol:SVEP1 semapv:UnspecifiedMatching OMIM:611691 SVEP1 skos:exactMatch ncbigene:79987 semapv:UnspecifiedMatching -OMIM:611692 ZBTB34 skos:exactMatch hgnc:ZBTB34 semapv:UnspecifiedMatching +OMIM:611692 ZBTB34 skos:exactMatch hgnc.symbol:31446 semapv:UnspecifiedMatching +OMIM:611692 ZBTB34 skos:exactMatch hgnc.symbol:ZBTB34 semapv:UnspecifiedMatching OMIM:611692 ZBTB34 skos:exactMatch ncbigene:403341 semapv:UnspecifiedMatching -OMIM:611693 CLMP skos:exactMatch hgnc:CLMP semapv:UnspecifiedMatching +OMIM:611693 CLMP skos:exactMatch hgnc.symbol:24039 semapv:UnspecifiedMatching +OMIM:611693 CLMP skos:exactMatch hgnc.symbol:CLMP semapv:UnspecifiedMatching OMIM:611693 CLMP skos:exactMatch ncbigene:79827 semapv:UnspecifiedMatching -OMIM:611695 TTBK2 skos:exactMatch hgnc:TTBK2 semapv:UnspecifiedMatching +OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:19141 semapv:UnspecifiedMatching +OMIM:611695 TTBK2 skos:exactMatch hgnc.symbol:TTBK2 semapv:UnspecifiedMatching OMIM:611695 TTBK2 skos:exactMatch ncbigene:146057 semapv:UnspecifiedMatching -OMIM:611696 SLC22A20 skos:exactMatch hgnc:SLC22A20P semapv:UnspecifiedMatching +OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:29867 semapv:UnspecifiedMatching +OMIM:611696 SLC22A20 skos:exactMatch hgnc.symbol:SLC22A20P semapv:UnspecifiedMatching OMIM:611696 SLC22A20 skos:exactMatch ncbigene:440044 semapv:UnspecifiedMatching -OMIM:611697 SLC22A23 skos:exactMatch hgnc:SLC22A23 semapv:UnspecifiedMatching +OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:21106 semapv:UnspecifiedMatching +OMIM:611697 SLC22A23 skos:exactMatch hgnc.symbol:SLC22A23 semapv:UnspecifiedMatching OMIM:611697 SLC22A23 skos:exactMatch ncbigene:63027 semapv:UnspecifiedMatching -OMIM:611698 SLC22A24 skos:exactMatch hgnc:SLC22A24 semapv:UnspecifiedMatching +OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:28542 semapv:UnspecifiedMatching +OMIM:611698 SLC22A24 skos:exactMatch hgnc.symbol:SLC22A24 semapv:UnspecifiedMatching OMIM:611698 SLC22A24 skos:exactMatch ncbigene:283238 semapv:UnspecifiedMatching -OMIM:611699 SVOP skos:exactMatch hgnc:SVOP semapv:UnspecifiedMatching +OMIM:611699 SVOP skos:exactMatch hgnc.symbol:25417 semapv:UnspecifiedMatching +OMIM:611699 SVOP skos:exactMatch hgnc.symbol:SVOP semapv:UnspecifiedMatching OMIM:611699 SVOP skos:exactMatch ncbigene:55530 semapv:UnspecifiedMatching -OMIM:611700 SVOPL skos:exactMatch hgnc:SVOPL semapv:UnspecifiedMatching +OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:27034 semapv:UnspecifiedMatching +OMIM:611700 SVOPL skos:exactMatch hgnc.symbol:SVOPL semapv:UnspecifiedMatching OMIM:611700 SVOPL skos:exactMatch ncbigene:136306 semapv:UnspecifiedMatching -OMIM:611701 SPNS3 skos:exactMatch hgnc:SPNS3 semapv:UnspecifiedMatching +OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:28433 semapv:UnspecifiedMatching +OMIM:611701 SPNS3 skos:exactMatch hgnc.symbol:SPNS3 semapv:UnspecifiedMatching OMIM:611701 SPNS3 skos:exactMatch ncbigene:201305 semapv:UnspecifiedMatching -OMIM:611703 ZNF436 skos:exactMatch hgnc:ZNF436 semapv:UnspecifiedMatching +OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:20814 semapv:UnspecifiedMatching +OMIM:611703 ZNF436 skos:exactMatch hgnc.symbol:ZNF436 semapv:UnspecifiedMatching OMIM:611703 ZNF436 skos:exactMatch ncbigene:80818 semapv:UnspecifiedMatching -OMIM:611704 TMPRSS11A skos:exactMatch hgnc:TMPRSS11A semapv:UnspecifiedMatching +OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:27954 semapv:UnspecifiedMatching +OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:TMPRSS11A semapv:UnspecifiedMatching OMIM:611704 TMPRSS11A skos:exactMatch ncbigene:339967 semapv:UnspecifiedMatching -OMIM:611707 MPZL3 skos:exactMatch hgnc:MPZL3 semapv:UnspecifiedMatching +OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:27279 semapv:UnspecifiedMatching +OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:MPZL3 semapv:UnspecifiedMatching OMIM:611707 MPZL3 skos:exactMatch ncbigene:196264 semapv:UnspecifiedMatching -OMIM:611708 MIR431 skos:exactMatch hgnc:MIR431 semapv:UnspecifiedMatching +OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:32027 semapv:UnspecifiedMatching +OMIM:611708 MIR431 skos:exactMatch hgnc.symbol:MIR431 semapv:UnspecifiedMatching OMIM:611708 MIR431 skos:exactMatch ncbigene:574038 semapv:UnspecifiedMatching -OMIM:611709 MIR127 skos:exactMatch hgnc:MIR127 semapv:UnspecifiedMatching +OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:31509 semapv:UnspecifiedMatching +OMIM:611709 MIR127 skos:exactMatch hgnc.symbol:MIR127 semapv:UnspecifiedMatching OMIM:611709 MIR127 skos:exactMatch ncbigene:406914 semapv:UnspecifiedMatching -OMIM:611710 MIR136 skos:exactMatch hgnc:MIR136 semapv:UnspecifiedMatching +OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:31522 semapv:UnspecifiedMatching +OMIM:611710 MIR136 skos:exactMatch hgnc.symbol:MIR136 semapv:UnspecifiedMatching OMIM:611710 MIR136 skos:exactMatch ncbigene:406927 semapv:UnspecifiedMatching -OMIM:611711 MIR433 skos:exactMatch hgnc:MIR433 semapv:UnspecifiedMatching +OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:32026 semapv:UnspecifiedMatching +OMIM:611711 MIR433 skos:exactMatch hgnc.symbol:MIR433 semapv:UnspecifiedMatching OMIM:611711 MIR433 skos:exactMatch ncbigene:574034 semapv:UnspecifiedMatching -OMIM:611712 HIPK4 skos:exactMatch hgnc:HIPK4 semapv:UnspecifiedMatching +OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:19007 semapv:UnspecifiedMatching +OMIM:611712 HIPK4 skos:exactMatch hgnc.symbol:HIPK4 semapv:UnspecifiedMatching OMIM:611712 HIPK4 skos:exactMatch ncbigene:147746 semapv:UnspecifiedMatching -OMIM:611713 TCTEX1D4 skos:exactMatch hgnc:DYNLT4 semapv:UnspecifiedMatching -OMIM:611713 TCTEX1D4 skos:exactMatch ncbigene:343521 semapv:UnspecifiedMatching -OMIM:611714 GAPVD1 skos:exactMatch hgnc:GAPVD1 semapv:UnspecifiedMatching +OMIM:611713 DYNLT4 skos:exactMatch hgnc.symbol:32315 semapv:UnspecifiedMatching +OMIM:611713 DYNLT4 skos:exactMatch hgnc.symbol:DYNLT4 semapv:UnspecifiedMatching +OMIM:611713 DYNLT4 skos:exactMatch ncbigene:343521 semapv:UnspecifiedMatching +OMIM:611714 GAPVD1 skos:exactMatch hgnc.symbol:23375 semapv:UnspecifiedMatching +OMIM:611714 GAPVD1 skos:exactMatch hgnc.symbol:GAPVD1 semapv:UnspecifiedMatching OMIM:611714 GAPVD1 skos:exactMatch ncbigene:26130 semapv:UnspecifiedMatching -OMIM:611715 SRD5A3 skos:exactMatch hgnc:SRD5A3 semapv:UnspecifiedMatching +OMIM:611715 SRD5A3 skos:exactMatch hgnc.symbol:25812 semapv:UnspecifiedMatching +OMIM:611715 SRD5A3 skos:exactMatch hgnc.symbol:SRD5A3 semapv:UnspecifiedMatching OMIM:611715 SRD5A3 skos:exactMatch ncbigene:79644 semapv:UnspecifiedMatching OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C0268355 semapv:UnspecifiedMatching OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C0406587 semapv:UnspecifiedMatching OMIM:611716 ATP6V0A2 skos:exactMatch UMLS:C1425544 semapv:UnspecifiedMatching -OMIM:611716 ATP6V0A2 skos:exactMatch hgnc:ATP6V0A2 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:18481 semapv:UnspecifiedMatching +OMIM:611716 ATP6V0A2 skos:exactMatch hgnc.symbol:ATP6V0A2 semapv:UnspecifiedMatching OMIM:611716 ATP6V0A2 skos:exactMatch ncbigene:23545 semapv:UnspecifiedMatching -OMIM:611720 IRF2BPL skos:exactMatch hgnc:IRF2BPL semapv:UnspecifiedMatching +OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:14282 semapv:UnspecifiedMatching +OMIM:611720 IRF2BPL skos:exactMatch hgnc.symbol:IRF2BPL semapv:UnspecifiedMatching OMIM:611720 IRF2BPL skos:exactMatch ncbigene:64207 semapv:UnspecifiedMatching -OMIM:611723 C21ORF24 skos:exactMatch hgnc:LINC00114 semapv:UnspecifiedMatching +OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:1265 semapv:UnspecifiedMatching +OMIM:611723 C21ORF24 skos:exactMatch hgnc.symbol:LINC00114 semapv:UnspecifiedMatching OMIM:611723 C21ORF24 skos:exactMatch ncbigene:400866 semapv:UnspecifiedMatching -OMIM:611725 KCTD7 skos:exactMatch hgnc:KCTD7 semapv:UnspecifiedMatching +OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:21957 semapv:UnspecifiedMatching +OMIM:611725 KCTD7 skos:exactMatch hgnc.symbol:KCTD7 semapv:UnspecifiedMatching OMIM:611725 KCTD7 skos:exactMatch ncbigene:154881 semapv:UnspecifiedMatching -OMIM:611727 C1ORF76 skos:exactMatch hgnc:FAM163A semapv:UnspecifiedMatching +OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:28274 semapv:UnspecifiedMatching +OMIM:611727 C1ORF76 skos:exactMatch hgnc.symbol:FAM163A semapv:UnspecifiedMatching OMIM:611727 C1ORF76 skos:exactMatch ncbigene:148753 semapv:UnspecifiedMatching -OMIM:611728 PRR5L skos:exactMatch hgnc:PRR5L semapv:UnspecifiedMatching +OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:25878 semapv:UnspecifiedMatching +OMIM:611728 PRR5L skos:exactMatch hgnc.symbol:PRR5L semapv:UnspecifiedMatching OMIM:611728 PRR5L skos:exactMatch ncbigene:79899 semapv:UnspecifiedMatching -OMIM:611729 KLC2 skos:exactMatch hgnc:KLC2 semapv:UnspecifiedMatching +OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:20716 semapv:UnspecifiedMatching +OMIM:611729 KLC2 skos:exactMatch hgnc.symbol:KLC2 semapv:UnspecifiedMatching OMIM:611729 KLC2 skos:exactMatch ncbigene:64837 semapv:UnspecifiedMatching -OMIM:611730 EPB41L5 skos:exactMatch hgnc:EPB41L5 semapv:UnspecifiedMatching +OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:19819 semapv:UnspecifiedMatching +OMIM:611730 EPB41L5 skos:exactMatch hgnc.symbol:EPB41L5 semapv:UnspecifiedMatching OMIM:611730 EPB41L5 skos:exactMatch ncbigene:57669 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C0017097 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C0032580 semapv:UnspecifiedMatching @@ -31162,1362 +43476,1965 @@ OMIM:611731 APC skos:exactMatch UMLS:C4015935 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C4017261 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C4017262 semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch UMLS:C4310860 semapv:UnspecifiedMatching -OMIM:611731 APC skos:exactMatch hgnc:APC semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch hgnc.symbol:583 semapv:UnspecifiedMatching +OMIM:611731 APC skos:exactMatch hgnc.symbol:APC semapv:UnspecifiedMatching OMIM:611731 APC skos:exactMatch ncbigene:324 semapv:UnspecifiedMatching -OMIM:611732 MBOAT1 skos:exactMatch hgnc:MBOAT1 semapv:UnspecifiedMatching +OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:21579 semapv:UnspecifiedMatching +OMIM:611732 MBOAT1 skos:exactMatch hgnc.symbol:MBOAT1 semapv:UnspecifiedMatching OMIM:611732 MBOAT1 skos:exactMatch ncbigene:154141 semapv:UnspecifiedMatching -OMIM:611734 WDR77 skos:exactMatch hgnc:WDR77 semapv:UnspecifiedMatching +OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:29652 semapv:UnspecifiedMatching +OMIM:611734 WDR77 skos:exactMatch hgnc.symbol:WDR77 semapv:UnspecifiedMatching OMIM:611734 WDR77 skos:exactMatch ncbigene:79084 semapv:UnspecifiedMatching -OMIM:611735 CDCP1 skos:exactMatch hgnc:CDCP1 semapv:UnspecifiedMatching +OMIM:611735 CDCP1 skos:exactMatch hgnc.symbol:24357 semapv:UnspecifiedMatching +OMIM:611735 CDCP1 skos:exactMatch hgnc.symbol:CDCP1 semapv:UnspecifiedMatching OMIM:611735 CDCP1 skos:exactMatch ncbigene:64866 semapv:UnspecifiedMatching -OMIM:611736 greb1 protein skos:exactMatch hgnc:GREB1 semapv:UnspecifiedMatching +OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:24885 semapv:UnspecifiedMatching +OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:GREB1 semapv:UnspecifiedMatching OMIM:611736 greb1 protein skos:exactMatch ncbigene:9687 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch hgnc:SEPTIN10 semapv:UnspecifiedMatching +OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:14349 semapv:UnspecifiedMatching +OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching OMIM:611737 SEPT10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch UMLS:C1425564 semapv:UnspecifiedMatching -OMIM:611740 BCO2 skos:exactMatch hgnc:BCO2 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:18503 semapv:UnspecifiedMatching +OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch ncbigene:83875 semapv:UnspecifiedMatching -OMIM:611741 ASIC3 skos:exactMatch hgnc:ASIC3 semapv:UnspecifiedMatching +OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:101 semapv:UnspecifiedMatching +OMIM:611741 ASIC3 skos:exactMatch hgnc.symbol:ASIC3 semapv:UnspecifiedMatching OMIM:611741 ASIC3 skos:exactMatch ncbigene:9311 semapv:UnspecifiedMatching -OMIM:611743 PLEKHG6 skos:exactMatch hgnc:PLEKHG6 semapv:UnspecifiedMatching +OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:25562 semapv:UnspecifiedMatching +OMIM:611743 PLEKHG6 skos:exactMatch hgnc.symbol:PLEKHG6 semapv:UnspecifiedMatching OMIM:611743 PLEKHG6 skos:exactMatch ncbigene:55200 semapv:UnspecifiedMatching -OMIM:611744 OTUD4 skos:exactMatch hgnc:OTUD4 semapv:UnspecifiedMatching +OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:24949 semapv:UnspecifiedMatching +OMIM:611744 OTUD4 skos:exactMatch hgnc.symbol:OTUD4 semapv:UnspecifiedMatching OMIM:611744 OTUD4 skos:exactMatch ncbigene:54726 semapv:UnspecifiedMatching -OMIM:611745 VCPIP1 skos:exactMatch hgnc:VCPIP1 semapv:UnspecifiedMatching +OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:30897 semapv:UnspecifiedMatching +OMIM:611745 VCPIP1 skos:exactMatch hgnc.symbol:VCPIP1 semapv:UnspecifiedMatching OMIM:611745 VCPIP1 skos:exactMatch ncbigene:80124 semapv:UnspecifiedMatching -OMIM:611746 SCUBE1 skos:exactMatch hgnc:SCUBE1 semapv:UnspecifiedMatching +OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:13441 semapv:UnspecifiedMatching +OMIM:611746 SCUBE1 skos:exactMatch hgnc.symbol:SCUBE1 semapv:UnspecifiedMatching OMIM:611746 SCUBE1 skos:exactMatch ncbigene:80274 semapv:UnspecifiedMatching -OMIM:611747 SCUBE2 skos:exactMatch hgnc:SCUBE2 semapv:UnspecifiedMatching +OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:30425 semapv:UnspecifiedMatching +OMIM:611747 SCUBE2 skos:exactMatch hgnc.symbol:SCUBE2 semapv:UnspecifiedMatching OMIM:611747 SCUBE2 skos:exactMatch ncbigene:57758 semapv:UnspecifiedMatching -OMIM:611748 OTUD7B skos:exactMatch hgnc:OTUD7B semapv:UnspecifiedMatching +OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:16683 semapv:UnspecifiedMatching +OMIM:611748 OTUD7B skos:exactMatch hgnc.symbol:OTUD7B semapv:UnspecifiedMatching OMIM:611748 OTUD7B skos:exactMatch ncbigene:56957 semapv:UnspecifiedMatching -OMIM:611749 ZRANB1 skos:exactMatch hgnc:ZRANB1 semapv:UnspecifiedMatching +OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:18224 semapv:UnspecifiedMatching +OMIM:611749 ZRANB1 skos:exactMatch hgnc.symbol:ZRANB1 semapv:UnspecifiedMatching OMIM:611749 ZRANB1 skos:exactMatch ncbigene:54764 semapv:UnspecifiedMatching -OMIM:611750 SYNC1 skos:exactMatch hgnc:SYNC semapv:UnspecifiedMatching +OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:28897 semapv:UnspecifiedMatching +OMIM:611750 SYNC1 skos:exactMatch hgnc.symbol:SYNC semapv:UnspecifiedMatching OMIM:611750 SYNC1 skos:exactMatch ncbigene:81493 semapv:UnspecifiedMatching -OMIM:611751 THUMPD2 skos:exactMatch hgnc:THUMPD2 semapv:UnspecifiedMatching +OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:14890 semapv:UnspecifiedMatching +OMIM:611751 THUMPD2 skos:exactMatch hgnc.symbol:THUMPD2 semapv:UnspecifiedMatching OMIM:611751 THUMPD2 skos:exactMatch ncbigene:80745 semapv:UnspecifiedMatching OMIM:611752 ECRG4 skos:exactMatch UMLS:C1824107 semapv:UnspecifiedMatching -OMIM:611752 ECRG4 skos:exactMatch hgnc:ECRG4 semapv:UnspecifiedMatching +OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:24642 semapv:UnspecifiedMatching +OMIM:611752 ECRG4 skos:exactMatch hgnc.symbol:ECRG4 semapv:UnspecifiedMatching OMIM:611752 ECRG4 skos:exactMatch ncbigene:84417 semapv:UnspecifiedMatching -OMIM:611753 VMP1 skos:exactMatch hgnc:VMP1 semapv:UnspecifiedMatching +OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:29559 semapv:UnspecifiedMatching +OMIM:611753 VMP1 skos:exactMatch hgnc.symbol:VMP1 semapv:UnspecifiedMatching OMIM:611753 VMP1 skos:exactMatch ncbigene:81671 semapv:UnspecifiedMatching -OMIM:611754 AADAT skos:exactMatch hgnc:AADAT semapv:UnspecifiedMatching +OMIM:611754 AADAT skos:exactMatch hgnc.symbol:17929 semapv:UnspecifiedMatching +OMIM:611754 AADAT skos:exactMatch hgnc.symbol:AADAT semapv:UnspecifiedMatching OMIM:611754 AADAT skos:exactMatch ncbigene:51166 semapv:UnspecifiedMatching -OMIM:611756 ROPN1L skos:exactMatch hgnc:ROPN1L semapv:UnspecifiedMatching +OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:24060 semapv:UnspecifiedMatching +OMIM:611756 ROPN1L skos:exactMatch hgnc.symbol:ROPN1L semapv:UnspecifiedMatching OMIM:611756 ROPN1L skos:exactMatch ncbigene:83853 semapv:UnspecifiedMatching -OMIM:611757 ROPN1 skos:exactMatch hgnc:ROPN1 semapv:UnspecifiedMatching +OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:17692 semapv:UnspecifiedMatching +OMIM:611757 ROPN1 skos:exactMatch hgnc.symbol:ROPN1 semapv:UnspecifiedMatching OMIM:611757 ROPN1 skos:exactMatch ncbigene:54763 semapv:UnspecifiedMatching -OMIM:611758 OTUD3 skos:exactMatch hgnc:OTUD3 semapv:UnspecifiedMatching +OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:29038 semapv:UnspecifiedMatching +OMIM:611758 OTUD3 skos:exactMatch hgnc.symbol:OTUD3 semapv:UnspecifiedMatching OMIM:611758 OTUD3 skos:exactMatch ncbigene:23252 semapv:UnspecifiedMatching -OMIM:611759 STARD3NL skos:exactMatch hgnc:STARD3NL semapv:UnspecifiedMatching +OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:19169 semapv:UnspecifiedMatching +OMIM:611759 STARD3NL skos:exactMatch hgnc.symbol:STARD3NL semapv:UnspecifiedMatching OMIM:611759 STARD3NL skos:exactMatch ncbigene:83930 semapv:UnspecifiedMatching -OMIM:611760 PCDH17 skos:exactMatch hgnc:PCDH17 semapv:UnspecifiedMatching +OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:14267 semapv:UnspecifiedMatching +OMIM:611760 PCDH17 skos:exactMatch hgnc.symbol:PCDH17 semapv:UnspecifiedMatching OMIM:611760 PCDH17 skos:exactMatch ncbigene:27253 semapv:UnspecifiedMatching -OMIM:611761 LMF1 skos:exactMatch hgnc:LMF1 semapv:UnspecifiedMatching +OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:14154 semapv:UnspecifiedMatching +OMIM:611761 LMF1 skos:exactMatch hgnc.symbol:LMF1 semapv:UnspecifiedMatching OMIM:611761 LMF1 skos:exactMatch ncbigene:64788 semapv:UnspecifiedMatching OMIM:611763 LBH skos:exactMatch UMLS:C1825795 semapv:UnspecifiedMatching -OMIM:611763 LBH skos:exactMatch hgnc:LBH semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch hgnc.symbol:29532 semapv:UnspecifiedMatching +OMIM:611763 LBH skos:exactMatch hgnc.symbol:LBH semapv:UnspecifiedMatching OMIM:611763 LBH skos:exactMatch ncbigene:81606 semapv:UnspecifiedMatching -OMIM:611764 CNFN skos:exactMatch hgnc:CNFN semapv:UnspecifiedMatching +OMIM:611764 CNFN skos:exactMatch hgnc.symbol:30183 semapv:UnspecifiedMatching +OMIM:611764 CNFN skos:exactMatch hgnc.symbol:CNFN semapv:UnspecifiedMatching OMIM:611764 CNFN skos:exactMatch ncbigene:84518 semapv:UnspecifiedMatching OMIM:611765 ASPRV1 skos:exactMatch UMLS:C0432304 semapv:UnspecifiedMatching OMIM:611765 ASPRV1 skos:exactMatch UMLS:C2239905 semapv:UnspecifiedMatching -OMIM:611765 ASPRV1 skos:exactMatch hgnc:ASPRV1 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:26321 semapv:UnspecifiedMatching +OMIM:611765 ASPRV1 skos:exactMatch hgnc.symbol:ASPRV1 semapv:UnspecifiedMatching OMIM:611765 ASPRV1 skos:exactMatch ncbigene:151516 semapv:UnspecifiedMatching -OMIM:611766 MTFMT skos:exactMatch hgnc:MTFMT semapv:UnspecifiedMatching +OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:29666 semapv:UnspecifiedMatching +OMIM:611766 MTFMT skos:exactMatch hgnc.symbol:MTFMT semapv:UnspecifiedMatching OMIM:611766 MTFMT skos:exactMatch ncbigene:123263 semapv:UnspecifiedMatching -OMIM:611767 MIR126 skos:exactMatch hgnc:MIR126 semapv:UnspecifiedMatching +OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:31508 semapv:UnspecifiedMatching +OMIM:611767 MIR126 skos:exactMatch hgnc.symbol:MIR126 semapv:UnspecifiedMatching OMIM:611767 MIR126 skos:exactMatch ncbigene:406913 semapv:UnspecifiedMatching -OMIM:611768 MIR335 skos:exactMatch hgnc:MIR335 semapv:UnspecifiedMatching +OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:31773 semapv:UnspecifiedMatching +OMIM:611768 MIR335 skos:exactMatch hgnc.symbol:MIR335 semapv:UnspecifiedMatching OMIM:611768 MIR335 skos:exactMatch ncbigene:442904 semapv:UnspecifiedMatching -OMIM:611769 MIR128-2 skos:exactMatch hgnc:MIR128-2 semapv:UnspecifiedMatching +OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:31511 semapv:UnspecifiedMatching +OMIM:611769 MIR128-2 skos:exactMatch hgnc.symbol:MIR128-2 semapv:UnspecifiedMatching OMIM:611769 MIR128-2 skos:exactMatch ncbigene:406916 semapv:UnspecifiedMatching OMIM:611770 NKX2-6 skos:exactMatch UMLS:C0041207 semapv:UnspecifiedMatching OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1826429 semapv:UnspecifiedMatching OMIM:611770 NKX2-6 skos:exactMatch UMLS:C1857586 semapv:UnspecifiedMatching -OMIM:611770 NKX2-6 skos:exactMatch hgnc:NKX2-6 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:32940 semapv:UnspecifiedMatching +OMIM:611770 NKX2-6 skos:exactMatch hgnc.symbol:NKX2-6 semapv:UnspecifiedMatching OMIM:611770 NKX2-6 skos:exactMatch ncbigene:137814 semapv:UnspecifiedMatching OMIM:611772 NUF2 skos:exactMatch UMLS:C1826495 semapv:UnspecifiedMatching -OMIM:611772 NUF2 skos:exactMatch hgnc:NUF2 semapv:UnspecifiedMatching +OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:14621 semapv:UnspecifiedMatching +OMIM:611772 NUF2 skos:exactMatch hgnc.symbol:NUF2 semapv:UnspecifiedMatching OMIM:611772 NUF2 skos:exactMatch ncbigene:83540 semapv:UnspecifiedMatching -OMIM:611774 MIR128-1 skos:exactMatch hgnc:MIR128-1 semapv:UnspecifiedMatching +OMIM:611774 MIR128-1 skos:exactMatch hgnc.symbol:31510 semapv:UnspecifiedMatching +OMIM:611774 MIR128-1 skos:exactMatch hgnc.symbol:MIR128-1 semapv:UnspecifiedMatching OMIM:611774 MIR128-1 skos:exactMatch ncbigene:406915 semapv:UnspecifiedMatching +OMIM:611775 kawasaki disease skos:exactMatch Orphanet:2331 semapv:UnspecifiedMatching OMIM:611775 kawasaki disease skos:exactMatch UMLS:C0026691 semapv:UnspecifiedMatching OMIM:611775 kawasaki disease skos:exactMatch UMLS:C2936917 semapv:UnspecifiedMatching -OMIM:611775 kawasaki disease skos:exactMatch orphanet.ordo:2331 semapv:UnspecifiedMatching -OMIM:611776 NDUFAF4 skos:exactMatch hgnc:NDUFAF4 semapv:UnspecifiedMatching +OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:21034 semapv:UnspecifiedMatching +OMIM:611776 NDUFAF4 skos:exactMatch hgnc.symbol:NDUFAF4 semapv:UnspecifiedMatching OMIM:611776 NDUFAF4 skos:exactMatch ncbigene:29078 semapv:UnspecifiedMatching -OMIM:611778 GPD1L skos:exactMatch hgnc:GPD1L semapv:UnspecifiedMatching +OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:28956 semapv:UnspecifiedMatching +OMIM:611778 GPD1L skos:exactMatch hgnc.symbol:GPD1L semapv:UnspecifiedMatching OMIM:611778 GPD1L skos:exactMatch ncbigene:23171 semapv:UnspecifiedMatching -OMIM:611779 FSCB skos:exactMatch hgnc:FSCB semapv:UnspecifiedMatching +OMIM:611779 FSCB skos:exactMatch hgnc.symbol:20494 semapv:UnspecifiedMatching +OMIM:611779 FSCB skos:exactMatch hgnc.symbol:FSCB semapv:UnspecifiedMatching OMIM:611779 FSCB skos:exactMatch ncbigene:84075 semapv:UnspecifiedMatching -OMIM:611780 PHRF1 skos:exactMatch hgnc:PHRF1 semapv:UnspecifiedMatching +OMIM:611780 PHRF1 skos:exactMatch hgnc.symbol:24351 semapv:UnspecifiedMatching +OMIM:611780 PHRF1 skos:exactMatch hgnc.symbol:PHRF1 semapv:UnspecifiedMatching OMIM:611780 PHRF1 skos:exactMatch ncbigene:57661 semapv:UnspecifiedMatching -OMIM:611781 PRDM14 skos:exactMatch hgnc:PRDM14 semapv:UnspecifiedMatching +OMIM:611781 PRDM14 skos:exactMatch hgnc.symbol:14001 semapv:UnspecifiedMatching +OMIM:611781 PRDM14 skos:exactMatch hgnc.symbol:PRDM14 semapv:UnspecifiedMatching OMIM:611781 PRDM14 skos:exactMatch ncbigene:63978 semapv:UnspecifiedMatching -OMIM:611782 DSCAML1 skos:exactMatch hgnc:DSCAML1 semapv:UnspecifiedMatching +OMIM:611782 DSCAML1 skos:exactMatch hgnc.symbol:14656 semapv:UnspecifiedMatching +OMIM:611782 DSCAML1 skos:exactMatch hgnc.symbol:DSCAML1 semapv:UnspecifiedMatching OMIM:611782 DSCAML1 skos:exactMatch ncbigene:57453 semapv:UnspecifiedMatching -OMIM:611784 GTF3C6 skos:exactMatch hgnc:GTF3C6 semapv:UnspecifiedMatching +OMIM:611784 GTF3C6 skos:exactMatch hgnc.symbol:20872 semapv:UnspecifiedMatching +OMIM:611784 GTF3C6 skos:exactMatch hgnc.symbol:GTF3C6 semapv:UnspecifiedMatching OMIM:611784 GTF3C6 skos:exactMatch ncbigene:112495 semapv:UnspecifiedMatching -OMIM:611785 ABCB5 skos:exactMatch hgnc:ABCB5 semapv:UnspecifiedMatching +OMIM:611785 ABCB5 skos:exactMatch hgnc.symbol:46 semapv:UnspecifiedMatching +OMIM:611785 ABCB5 skos:exactMatch hgnc.symbol:ABCB5 semapv:UnspecifiedMatching OMIM:611785 ABCB5 skos:exactMatch ncbigene:340273 semapv:UnspecifiedMatching OMIM:611786 MEMO1 skos:exactMatch UMLS:C1422348 semapv:UnspecifiedMatching -OMIM:611786 MEMO1 skos:exactMatch hgnc:MEMO1 semapv:UnspecifiedMatching +OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:14014 semapv:UnspecifiedMatching +OMIM:611786 MEMO1 skos:exactMatch hgnc.symbol:MEMO1 semapv:UnspecifiedMatching OMIM:611786 MEMO1 skos:exactMatch ncbigene:51072 semapv:UnspecifiedMatching -OMIM:611787 CMPK2 skos:exactMatch hgnc:CMPK2 semapv:UnspecifiedMatching +OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:27015 semapv:UnspecifiedMatching +OMIM:611787 CMPK2 skos:exactMatch hgnc.symbol:CMPK2 semapv:UnspecifiedMatching OMIM:611787 CMPK2 skos:exactMatch ncbigene:129607 semapv:UnspecifiedMatching -OMIM:611789 NHEDC2 skos:exactMatch hgnc:SLC9B2 semapv:UnspecifiedMatching +OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:25143 semapv:UnspecifiedMatching +OMIM:611789 NHEDC2 skos:exactMatch hgnc.symbol:SLC9B2 semapv:UnspecifiedMatching OMIM:611789 NHEDC2 skos:exactMatch ncbigene:133308 semapv:UnspecifiedMatching -OMIM:611790 MYRIP skos:exactMatch hgnc:MYRIP semapv:UnspecifiedMatching +OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:19156 semapv:UnspecifiedMatching +OMIM:611790 MYRIP skos:exactMatch hgnc.symbol:MYRIP semapv:UnspecifiedMatching OMIM:611790 MYRIP skos:exactMatch ncbigene:25924 semapv:UnspecifiedMatching -OMIM:611791 PTCHD3 skos:exactMatch hgnc:PTCHD3 semapv:UnspecifiedMatching +OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:24776 semapv:UnspecifiedMatching +OMIM:611791 PTCHD3 skos:exactMatch hgnc.symbol:PTCHD3 semapv:UnspecifiedMatching OMIM:611791 PTCHD3 skos:exactMatch ncbigene:374308 semapv:UnspecifiedMatching OMIM:611792 ZCCHC4 skos:exactMatch UMLS:C1427776 semapv:UnspecifiedMatching -OMIM:611792 ZCCHC4 skos:exactMatch hgnc:ZCCHC4 semapv:UnspecifiedMatching +OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:22917 semapv:UnspecifiedMatching +OMIM:611792 ZCCHC4 skos:exactMatch hgnc.symbol:ZCCHC4 semapv:UnspecifiedMatching OMIM:611792 ZCCHC4 skos:exactMatch ncbigene:29063 semapv:UnspecifiedMatching -OMIM:611793 LSM12 skos:exactMatch hgnc:LSM12 semapv:UnspecifiedMatching +OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:26407 semapv:UnspecifiedMatching +OMIM:611793 LSM12 skos:exactMatch hgnc.symbol:LSM12 semapv:UnspecifiedMatching OMIM:611793 LSM12 skos:exactMatch ncbigene:124801 semapv:UnspecifiedMatching -OMIM:611794 MIR369 skos:exactMatch hgnc:MIR369 semapv:UnspecifiedMatching +OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:31783 semapv:UnspecifiedMatching +OMIM:611794 MIR369 skos:exactMatch hgnc.symbol:MIR369 semapv:UnspecifiedMatching OMIM:611794 MIR369 skos:exactMatch ncbigene:442914 semapv:UnspecifiedMatching -OMIM:611795 MIR145 skos:exactMatch hgnc:MIR145 semapv:UnspecifiedMatching +OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:31532 semapv:UnspecifiedMatching +OMIM:611795 MIR145 skos:exactMatch hgnc.symbol:MIR145 semapv:UnspecifiedMatching OMIM:611795 MIR145 skos:exactMatch ncbigene:406937 semapv:UnspecifiedMatching -OMIM:611796 SCG3 skos:exactMatch hgnc:SCG3 semapv:UnspecifiedMatching +OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:13707 semapv:UnspecifiedMatching +OMIM:611796 SCG3 skos:exactMatch hgnc.symbol:SCG3 semapv:UnspecifiedMatching OMIM:611796 SCG3 skos:exactMatch ncbigene:29106 semapv:UnspecifiedMatching -OMIM:611797 UQCC1 skos:exactMatch hgnc:UQCC1 semapv:UnspecifiedMatching +OMIM:611797 UQCC1 skos:exactMatch hgnc.symbol:15891 semapv:UnspecifiedMatching +OMIM:611797 UQCC1 skos:exactMatch hgnc.symbol:UQCC1 semapv:UnspecifiedMatching OMIM:611797 UQCC1 skos:exactMatch ncbigene:55245 semapv:UnspecifiedMatching -OMIM:611798 EFR3A skos:exactMatch hgnc:EFR3A semapv:UnspecifiedMatching +OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:28970 semapv:UnspecifiedMatching +OMIM:611798 EFR3A skos:exactMatch hgnc.symbol:EFR3A semapv:UnspecifiedMatching OMIM:611798 EFR3A skos:exactMatch ncbigene:23167 semapv:UnspecifiedMatching -OMIM:611799 LCORL skos:exactMatch hgnc:LCORL semapv:UnspecifiedMatching +OMIM:611799 LCORL skos:exactMatch hgnc.symbol:30776 semapv:UnspecifiedMatching +OMIM:611799 LCORL skos:exactMatch hgnc.symbol:LCORL semapv:UnspecifiedMatching OMIM:611799 LCORL skos:exactMatch ncbigene:254251 semapv:UnspecifiedMatching -OMIM:611800 THADA skos:exactMatch hgnc:THADA semapv:UnspecifiedMatching +OMIM:611800 THADA skos:exactMatch hgnc.symbol:19217 semapv:UnspecifiedMatching +OMIM:611800 THADA skos:exactMatch hgnc.symbol:THADA semapv:UnspecifiedMatching OMIM:611800 THADA skos:exactMatch ncbigene:63892 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch UMLS:C1538624 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching -OMIM:611801 PGAP3 skos:exactMatch hgnc:PGAP3 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:23719 semapv:UnspecifiedMatching +OMIM:611801 PGAP3 skos:exactMatch hgnc.symbol:PGAP3 semapv:UnspecifiedMatching OMIM:611801 PGAP3 skos:exactMatch ncbigene:93210 semapv:UnspecifiedMatching -OMIM:611802 MIEN1 skos:exactMatch hgnc:MIEN1 semapv:UnspecifiedMatching +OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:28230 semapv:UnspecifiedMatching +OMIM:611802 MIEN1 skos:exactMatch hgnc.symbol:MIEN1 semapv:UnspecifiedMatching OMIM:611802 MIEN1 skos:exactMatch ncbigene:84299 semapv:UnspecifiedMatching -OMIM:611803 ITFG1 skos:exactMatch hgnc:ITFG1 semapv:UnspecifiedMatching +OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:30697 semapv:UnspecifiedMatching +OMIM:611803 ITFG1 skos:exactMatch hgnc.symbol:ITFG1 semapv:UnspecifiedMatching OMIM:611803 ITFG1 skos:exactMatch ncbigene:81533 semapv:UnspecifiedMatching -OMIM:611805 ELOVL5 skos:exactMatch hgnc:ELOVL5 semapv:UnspecifiedMatching +OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:21308 semapv:UnspecifiedMatching +OMIM:611805 ELOVL5 skos:exactMatch hgnc.symbol:ELOVL5 semapv:UnspecifiedMatching OMIM:611805 ELOVL5 skos:exactMatch ncbigene:60481 semapv:UnspecifiedMatching -OMIM:611806 AS3MT skos:exactMatch hgnc:AS3MT semapv:UnspecifiedMatching +OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:17452 semapv:UnspecifiedMatching +OMIM:611806 AS3MT skos:exactMatch hgnc.symbol:AS3MT semapv:UnspecifiedMatching OMIM:611806 AS3MT skos:exactMatch ncbigene:57412 semapv:UnspecifiedMatching -OMIM:611807 TIPRL skos:exactMatch hgnc:TIPRL semapv:UnspecifiedMatching +OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:30231 semapv:UnspecifiedMatching +OMIM:611807 TIPRL skos:exactMatch hgnc.symbol:TIPRL semapv:UnspecifiedMatching OMIM:611807 TIPRL skos:exactMatch ncbigene:261726 semapv:UnspecifiedMatching -OMIM:611810 USHBP1 skos:exactMatch hgnc:USHBP1 semapv:UnspecifiedMatching +OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:24058 semapv:UnspecifiedMatching +OMIM:611810 USHBP1 skos:exactMatch hgnc.symbol:USHBP1 semapv:UnspecifiedMatching OMIM:611810 USHBP1 skos:exactMatch ncbigene:83878 semapv:UnspecifiedMatching -OMIM:611811 ZNF333 skos:exactMatch hgnc:ZNF333 semapv:UnspecifiedMatching +OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:15624 semapv:UnspecifiedMatching +OMIM:611811 ZNF333 skos:exactMatch hgnc.symbol:ZNF333 semapv:UnspecifiedMatching OMIM:611811 ZNF333 skos:exactMatch ncbigene:84449 semapv:UnspecifiedMatching -OMIM:611813 ELOVL1 skos:exactMatch hgnc:ELOVL1 semapv:UnspecifiedMatching +OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:14418 semapv:UnspecifiedMatching +OMIM:611813 ELOVL1 skos:exactMatch hgnc.symbol:ELOVL1 semapv:UnspecifiedMatching OMIM:611813 ELOVL1 skos:exactMatch ncbigene:64834 semapv:UnspecifiedMatching -OMIM:611814 ELOVL2 skos:exactMatch hgnc:ELOVL2 semapv:UnspecifiedMatching +OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:14416 semapv:UnspecifiedMatching +OMIM:611814 ELOVL2 skos:exactMatch hgnc.symbol:ELOVL2 semapv:UnspecifiedMatching OMIM:611814 ELOVL2 skos:exactMatch ncbigene:54898 semapv:UnspecifiedMatching -OMIM:611815 ELOVL3 skos:exactMatch hgnc:ELOVL3 semapv:UnspecifiedMatching +OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:18047 semapv:UnspecifiedMatching +OMIM:611815 ELOVL3 skos:exactMatch hgnc.symbol:ELOVL3 semapv:UnspecifiedMatching OMIM:611815 ELOVL3 skos:exactMatch ncbigene:83401 semapv:UnspecifiedMatching -OMIM:611817 KLRK1 skos:exactMatch hgnc:KLRK1 semapv:UnspecifiedMatching +OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:18788 semapv:UnspecifiedMatching +OMIM:611817 KLRK1 skos:exactMatch hgnc.symbol:KLRK1 semapv:UnspecifiedMatching OMIM:611817 KLRK1 skos:exactMatch ncbigene:22914 semapv:UnspecifiedMatching -OMIM:611821 MRPL1 skos:exactMatch hgnc:MRPL1 semapv:UnspecifiedMatching +OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:14275 semapv:UnspecifiedMatching +OMIM:611821 MRPL1 skos:exactMatch hgnc.symbol:MRPL1 semapv:UnspecifiedMatching OMIM:611821 MRPL1 skos:exactMatch ncbigene:65008 semapv:UnspecifiedMatching -OMIM:611822 MRPL2 skos:exactMatch hgnc:MRPL2 semapv:UnspecifiedMatching +OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:14056 semapv:UnspecifiedMatching +OMIM:611822 MRPL2 skos:exactMatch hgnc.symbol:MRPL2 semapv:UnspecifiedMatching OMIM:611822 MRPL2 skos:exactMatch ncbigene:51069 semapv:UnspecifiedMatching -OMIM:611823 MRPL4 skos:exactMatch hgnc:MRPL4 semapv:UnspecifiedMatching +OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:14276 semapv:UnspecifiedMatching +OMIM:611823 MRPL4 skos:exactMatch hgnc.symbol:MRPL4 semapv:UnspecifiedMatching OMIM:611823 MRPL4 skos:exactMatch ncbigene:51073 semapv:UnspecifiedMatching -OMIM:611824 MRPL9 skos:exactMatch hgnc:MRPL9 semapv:UnspecifiedMatching +OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:14277 semapv:UnspecifiedMatching +OMIM:611824 MRPL9 skos:exactMatch hgnc.symbol:MRPL9 semapv:UnspecifiedMatching OMIM:611824 MRPL9 skos:exactMatch ncbigene:65005 semapv:UnspecifiedMatching -OMIM:611825 MRPL10 skos:exactMatch hgnc:MRPL10 semapv:UnspecifiedMatching +OMIM:611825 MRPL10 skos:exactMatch hgnc.symbol:14055 semapv:UnspecifiedMatching +OMIM:611825 MRPL10 skos:exactMatch hgnc.symbol:MRPL10 semapv:UnspecifiedMatching OMIM:611825 MRPL10 skos:exactMatch ncbigene:124995 semapv:UnspecifiedMatching -OMIM:611826 MRPL11 skos:exactMatch hgnc:MRPL11 semapv:UnspecifiedMatching +OMIM:611826 MRPL11 skos:exactMatch hgnc.symbol:14042 semapv:UnspecifiedMatching +OMIM:611826 MRPL11 skos:exactMatch hgnc.symbol:MRPL11 semapv:UnspecifiedMatching OMIM:611826 MRPL11 skos:exactMatch ncbigene:65003 semapv:UnspecifiedMatching -OMIM:611827 MRPL14 skos:exactMatch hgnc:MRPL14 semapv:UnspecifiedMatching +OMIM:611827 MRPL14 skos:exactMatch hgnc.symbol:14279 semapv:UnspecifiedMatching +OMIM:611827 MRPL14 skos:exactMatch hgnc.symbol:MRPL14 semapv:UnspecifiedMatching OMIM:611827 MRPL14 skos:exactMatch ncbigene:64928 semapv:UnspecifiedMatching -OMIM:611828 MRPL15 skos:exactMatch hgnc:MRPL15 semapv:UnspecifiedMatching +OMIM:611828 MRPL15 skos:exactMatch hgnc.symbol:14054 semapv:UnspecifiedMatching +OMIM:611828 MRPL15 skos:exactMatch hgnc.symbol:MRPL15 semapv:UnspecifiedMatching OMIM:611828 MRPL15 skos:exactMatch ncbigene:29088 semapv:UnspecifiedMatching -OMIM:611829 MRPL16 skos:exactMatch hgnc:MRPL16 semapv:UnspecifiedMatching +OMIM:611829 MRPL16 skos:exactMatch hgnc.symbol:14476 semapv:UnspecifiedMatching +OMIM:611829 MRPL16 skos:exactMatch hgnc.symbol:MRPL16 semapv:UnspecifiedMatching OMIM:611829 MRPL16 skos:exactMatch ncbigene:54948 semapv:UnspecifiedMatching -OMIM:611830 MRPL17 skos:exactMatch hgnc:MRPL17 semapv:UnspecifiedMatching +OMIM:611830 MRPL17 skos:exactMatch hgnc.symbol:14053 semapv:UnspecifiedMatching +OMIM:611830 MRPL17 skos:exactMatch hgnc.symbol:MRPL17 semapv:UnspecifiedMatching OMIM:611830 MRPL17 skos:exactMatch ncbigene:63875 semapv:UnspecifiedMatching -OMIM:611831 MRPL18 skos:exactMatch hgnc:MRPL18 semapv:UnspecifiedMatching +OMIM:611831 MRPL18 skos:exactMatch hgnc.symbol:14477 semapv:UnspecifiedMatching +OMIM:611831 MRPL18 skos:exactMatch hgnc.symbol:MRPL18 semapv:UnspecifiedMatching OMIM:611831 MRPL18 skos:exactMatch ncbigene:29074 semapv:UnspecifiedMatching -OMIM:611832 MRPL19 skos:exactMatch hgnc:MRPL19 semapv:UnspecifiedMatching +OMIM:611832 MRPL19 skos:exactMatch hgnc.symbol:14052 semapv:UnspecifiedMatching +OMIM:611832 MRPL19 skos:exactMatch hgnc.symbol:MRPL19 semapv:UnspecifiedMatching OMIM:611832 MRPL19 skos:exactMatch ncbigene:9801 semapv:UnspecifiedMatching -OMIM:611833 MRPL20 skos:exactMatch hgnc:MRPL20 semapv:UnspecifiedMatching +OMIM:611833 MRPL20 skos:exactMatch hgnc.symbol:14478 semapv:UnspecifiedMatching +OMIM:611833 MRPL20 skos:exactMatch hgnc.symbol:MRPL20 semapv:UnspecifiedMatching OMIM:611833 MRPL20 skos:exactMatch ncbigene:55052 semapv:UnspecifiedMatching -OMIM:611834 MRPL21 skos:exactMatch hgnc:MRPL21 semapv:UnspecifiedMatching +OMIM:611834 MRPL21 skos:exactMatch hgnc.symbol:14479 semapv:UnspecifiedMatching +OMIM:611834 MRPL21 skos:exactMatch hgnc.symbol:MRPL21 semapv:UnspecifiedMatching OMIM:611834 MRPL21 skos:exactMatch ncbigene:219927 semapv:UnspecifiedMatching -OMIM:611835 MRPL22 skos:exactMatch hgnc:MRPL22 semapv:UnspecifiedMatching +OMIM:611835 MRPL22 skos:exactMatch hgnc.symbol:14480 semapv:UnspecifiedMatching +OMIM:611835 MRPL22 skos:exactMatch hgnc.symbol:MRPL22 semapv:UnspecifiedMatching OMIM:611835 MRPL22 skos:exactMatch ncbigene:29093 semapv:UnspecifiedMatching -OMIM:611836 MRPL24 skos:exactMatch hgnc:MRPL24 semapv:UnspecifiedMatching +OMIM:611836 MRPL24 skos:exactMatch hgnc.symbol:14037 semapv:UnspecifiedMatching +OMIM:611836 MRPL24 skos:exactMatch hgnc.symbol:MRPL24 semapv:UnspecifiedMatching OMIM:611836 MRPL24 skos:exactMatch ncbigene:79590 semapv:UnspecifiedMatching -OMIM:611837 MRPL27 skos:exactMatch hgnc:MRPL27 semapv:UnspecifiedMatching +OMIM:611837 MRPL27 skos:exactMatch hgnc.symbol:14483 semapv:UnspecifiedMatching +OMIM:611837 MRPL27 skos:exactMatch hgnc.symbol:MRPL27 semapv:UnspecifiedMatching OMIM:611837 MRPL27 skos:exactMatch ncbigene:51264 semapv:UnspecifiedMatching -OMIM:611838 MRPL30 skos:exactMatch hgnc:MRPL30 semapv:UnspecifiedMatching +OMIM:611838 MRPL30 skos:exactMatch hgnc.symbol:14036 semapv:UnspecifiedMatching +OMIM:611838 MRPL30 skos:exactMatch hgnc.symbol:MRPL30 semapv:UnspecifiedMatching OMIM:611838 MRPL30 skos:exactMatch ncbigene:51263 semapv:UnspecifiedMatching -OMIM:611839 MRPL32 skos:exactMatch hgnc:MRPL32 semapv:UnspecifiedMatching +OMIM:611839 MRPL32 skos:exactMatch hgnc.symbol:14035 semapv:UnspecifiedMatching +OMIM:611839 MRPL32 skos:exactMatch hgnc.symbol:MRPL32 semapv:UnspecifiedMatching OMIM:611839 MRPL32 skos:exactMatch ncbigene:64983 semapv:UnspecifiedMatching -OMIM:611840 MRPL34 skos:exactMatch hgnc:MRPL34 semapv:UnspecifiedMatching +OMIM:611840 MRPL34 skos:exactMatch hgnc.symbol:14488 semapv:UnspecifiedMatching +OMIM:611840 MRPL34 skos:exactMatch hgnc.symbol:MRPL34 semapv:UnspecifiedMatching OMIM:611840 MRPL34 skos:exactMatch ncbigene:64981 semapv:UnspecifiedMatching -OMIM:611841 MRPL35 skos:exactMatch hgnc:MRPL35 semapv:UnspecifiedMatching +OMIM:611841 MRPL35 skos:exactMatch hgnc.symbol:14489 semapv:UnspecifiedMatching +OMIM:611841 MRPL35 skos:exactMatch hgnc.symbol:MRPL35 semapv:UnspecifiedMatching OMIM:611841 MRPL35 skos:exactMatch ncbigene:51318 semapv:UnspecifiedMatching -OMIM:611842 MRPL36 skos:exactMatch hgnc:MRPL36 semapv:UnspecifiedMatching +OMIM:611842 MRPL36 skos:exactMatch hgnc.symbol:14490 semapv:UnspecifiedMatching +OMIM:611842 MRPL36 skos:exactMatch hgnc.symbol:MRPL36 semapv:UnspecifiedMatching OMIM:611842 MRPL36 skos:exactMatch ncbigene:64979 semapv:UnspecifiedMatching -OMIM:611843 MRPL37 skos:exactMatch hgnc:MRPL37 semapv:UnspecifiedMatching +OMIM:611843 MRPL37 skos:exactMatch hgnc.symbol:14034 semapv:UnspecifiedMatching +OMIM:611843 MRPL37 skos:exactMatch hgnc.symbol:MRPL37 semapv:UnspecifiedMatching OMIM:611843 MRPL37 skos:exactMatch ncbigene:51253 semapv:UnspecifiedMatching -OMIM:611844 MRPL38 skos:exactMatch hgnc:MRPL38 semapv:UnspecifiedMatching +OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:14033 semapv:UnspecifiedMatching +OMIM:611844 MRPL38 skos:exactMatch hgnc.symbol:MRPL38 semapv:UnspecifiedMatching OMIM:611844 MRPL38 skos:exactMatch ncbigene:64978 semapv:UnspecifiedMatching -OMIM:611845 MRPL39 skos:exactMatch hgnc:MRPL39 semapv:UnspecifiedMatching +OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:14027 semapv:UnspecifiedMatching +OMIM:611845 MRPL39 skos:exactMatch hgnc.symbol:MRPL39 semapv:UnspecifiedMatching OMIM:611845 MRPL39 skos:exactMatch ncbigene:54148 semapv:UnspecifiedMatching -OMIM:611846 MRPL41 skos:exactMatch hgnc:MRPL41 semapv:UnspecifiedMatching +OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:14492 semapv:UnspecifiedMatching +OMIM:611846 MRPL41 skos:exactMatch hgnc.symbol:MRPL41 semapv:UnspecifiedMatching OMIM:611846 MRPL41 skos:exactMatch ncbigene:64975 semapv:UnspecifiedMatching -OMIM:611847 MRPL42 skos:exactMatch hgnc:MRPL42 semapv:UnspecifiedMatching +OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:14493 semapv:UnspecifiedMatching +OMIM:611847 MRPL42 skos:exactMatch hgnc.symbol:MRPL42 semapv:UnspecifiedMatching OMIM:611847 MRPL42 skos:exactMatch ncbigene:28977 semapv:UnspecifiedMatching -OMIM:611848 MRPL43 skos:exactMatch hgnc:MRPL43 semapv:UnspecifiedMatching +OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:14517 semapv:UnspecifiedMatching +OMIM:611848 MRPL43 skos:exactMatch hgnc.symbol:MRPL43 semapv:UnspecifiedMatching OMIM:611848 MRPL43 skos:exactMatch ncbigene:84545 semapv:UnspecifiedMatching -OMIM:611849 MRPL44 skos:exactMatch hgnc:MRPL44 semapv:UnspecifiedMatching +OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:16650 semapv:UnspecifiedMatching +OMIM:611849 MRPL44 skos:exactMatch hgnc.symbol:MRPL44 semapv:UnspecifiedMatching OMIM:611849 MRPL44 skos:exactMatch ncbigene:65080 semapv:UnspecifiedMatching -OMIM:611850 MRPL45 skos:exactMatch hgnc:MRPL45 semapv:UnspecifiedMatching +OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:16651 semapv:UnspecifiedMatching +OMIM:611850 MRPL45 skos:exactMatch hgnc.symbol:MRPL45 semapv:UnspecifiedMatching OMIM:611850 MRPL45 skos:exactMatch ncbigene:84311 semapv:UnspecifiedMatching -OMIM:611851 MRPL46 skos:exactMatch hgnc:MRPL46 semapv:UnspecifiedMatching +OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:1192 semapv:UnspecifiedMatching +OMIM:611851 MRPL46 skos:exactMatch hgnc.symbol:MRPL46 semapv:UnspecifiedMatching OMIM:611851 MRPL46 skos:exactMatch ncbigene:26589 semapv:UnspecifiedMatching -OMIM:611852 MRPL47 skos:exactMatch hgnc:MRPL47 semapv:UnspecifiedMatching +OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:16652 semapv:UnspecifiedMatching +OMIM:611852 MRPL47 skos:exactMatch hgnc.symbol:MRPL47 semapv:UnspecifiedMatching OMIM:611852 MRPL47 skos:exactMatch ncbigene:57129 semapv:UnspecifiedMatching -OMIM:611853 MRPL48 skos:exactMatch hgnc:MRPL48 semapv:UnspecifiedMatching +OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:16653 semapv:UnspecifiedMatching +OMIM:611853 MRPL48 skos:exactMatch hgnc.symbol:MRPL48 semapv:UnspecifiedMatching OMIM:611853 MRPL48 skos:exactMatch ncbigene:51642 semapv:UnspecifiedMatching -OMIM:611854 MRPL50 skos:exactMatch hgnc:MRPL50 semapv:UnspecifiedMatching +OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:16654 semapv:UnspecifiedMatching +OMIM:611854 MRPL50 skos:exactMatch hgnc.symbol:MRPL50 semapv:UnspecifiedMatching OMIM:611854 MRPL50 skos:exactMatch ncbigene:54534 semapv:UnspecifiedMatching -OMIM:611855 MRPL51 skos:exactMatch hgnc:MRPL51 semapv:UnspecifiedMatching +OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:14044 semapv:UnspecifiedMatching +OMIM:611855 MRPL51 skos:exactMatch hgnc.symbol:MRPL51 semapv:UnspecifiedMatching OMIM:611855 MRPL51 skos:exactMatch ncbigene:51258 semapv:UnspecifiedMatching -OMIM:611856 MRPL52 skos:exactMatch hgnc:MRPL52 semapv:UnspecifiedMatching +OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:16655 semapv:UnspecifiedMatching +OMIM:611856 MRPL52 skos:exactMatch hgnc.symbol:MRPL52 semapv:UnspecifiedMatching OMIM:611856 MRPL52 skos:exactMatch ncbigene:122704 semapv:UnspecifiedMatching -OMIM:611857 MRPL53 skos:exactMatch hgnc:MRPL53 semapv:UnspecifiedMatching +OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:16684 semapv:UnspecifiedMatching +OMIM:611857 MRPL53 skos:exactMatch hgnc.symbol:MRPL53 semapv:UnspecifiedMatching OMIM:611857 MRPL53 skos:exactMatch ncbigene:116540 semapv:UnspecifiedMatching -OMIM:611858 MRPL54 skos:exactMatch hgnc:MRPL54 semapv:UnspecifiedMatching +OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:16685 semapv:UnspecifiedMatching +OMIM:611858 MRPL54 skos:exactMatch hgnc.symbol:MRPL54 semapv:UnspecifiedMatching OMIM:611858 MRPL54 skos:exactMatch ncbigene:116541 semapv:UnspecifiedMatching -OMIM:611859 MRPL55 skos:exactMatch hgnc:MRPL55 semapv:UnspecifiedMatching +OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:16686 semapv:UnspecifiedMatching +OMIM:611859 MRPL55 skos:exactMatch hgnc.symbol:MRPL55 semapv:UnspecifiedMatching OMIM:611859 MRPL55 skos:exactMatch ncbigene:128308 semapv:UnspecifiedMatching -OMIM:611861 ADPGK skos:exactMatch hgnc:ADPGK semapv:UnspecifiedMatching +OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:25250 semapv:UnspecifiedMatching +OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:ADPGK semapv:UnspecifiedMatching OMIM:611861 ADPGK skos:exactMatch ncbigene:83440 semapv:UnspecifiedMatching -OMIM:611864 ARMC10 skos:exactMatch hgnc:ARMC10 semapv:UnspecifiedMatching +OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:21706 semapv:UnspecifiedMatching +OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:ARMC10 semapv:UnspecifiedMatching OMIM:611864 ARMC10 skos:exactMatch ncbigene:83787 semapv:UnspecifiedMatching OMIM:611865 L3MBTL2 skos:exactMatch UMLS:C1425632 semapv:UnspecifiedMatching -OMIM:611865 L3MBTL2 skos:exactMatch hgnc:L3MBTL2 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:18594 semapv:UnspecifiedMatching +OMIM:611865 L3MBTL2 skos:exactMatch hgnc.symbol:L3MBTL2 semapv:UnspecifiedMatching OMIM:611865 L3MBTL2 skos:exactMatch ncbigene:83746 semapv:UnspecifiedMatching -OMIM:611866 RBP5 skos:exactMatch hgnc:RBP5 semapv:UnspecifiedMatching +OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:15847 semapv:UnspecifiedMatching +OMIM:611866 RBP5 skos:exactMatch hgnc.symbol:RBP5 semapv:UnspecifiedMatching OMIM:611866 RBP5 skos:exactMatch ncbigene:83758 semapv:UnspecifiedMatching +OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 semapv:UnspecifiedMatching OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch UMLS:C2678480 semapv:UnspecifiedMatching -OMIM:611867 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch orphanet.ordo:261330 semapv:UnspecifiedMatching -OMIM:611869 RABEP2 skos:exactMatch hgnc:RABEP2 semapv:UnspecifiedMatching +OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:24817 semapv:UnspecifiedMatching +OMIM:611869 RABEP2 skos:exactMatch hgnc.symbol:RABEP2 semapv:UnspecifiedMatching OMIM:611869 RABEP2 skos:exactMatch ncbigene:79874 semapv:UnspecifiedMatching -OMIM:611870 CNTLN skos:exactMatch hgnc:CNTLN semapv:UnspecifiedMatching +OMIM:611870 CNTLN skos:exactMatch hgnc.symbol:23432 semapv:UnspecifiedMatching +OMIM:611870 CNTLN skos:exactMatch hgnc.symbol:CNTLN semapv:UnspecifiedMatching OMIM:611870 CNTLN skos:exactMatch ncbigene:54875 semapv:UnspecifiedMatching -OMIM:611871 RMDN1 skos:exactMatch hgnc:RMDN1 semapv:UnspecifiedMatching +OMIM:611871 RMDN1 skos:exactMatch hgnc.symbol:24285 semapv:UnspecifiedMatching +OMIM:611871 RMDN1 skos:exactMatch hgnc.symbol:RMDN1 semapv:UnspecifiedMatching OMIM:611871 RMDN1 skos:exactMatch ncbigene:51115 semapv:UnspecifiedMatching -OMIM:611872 RMDN2 skos:exactMatch hgnc:RMDN2 semapv:UnspecifiedMatching +OMIM:611872 RMDN2 skos:exactMatch hgnc.symbol:26567 semapv:UnspecifiedMatching +OMIM:611872 RMDN2 skos:exactMatch hgnc.symbol:RMDN2 semapv:UnspecifiedMatching OMIM:611872 RMDN2 skos:exactMatch ncbigene:151393 semapv:UnspecifiedMatching -OMIM:611873 RMDN3 skos:exactMatch hgnc:RMDN3 semapv:UnspecifiedMatching +OMIM:611873 RMDN3 skos:exactMatch hgnc.symbol:25550 semapv:UnspecifiedMatching +OMIM:611873 RMDN3 skos:exactMatch hgnc.symbol:RMDN3 semapv:UnspecifiedMatching OMIM:611873 RMDN3 skos:exactMatch ncbigene:55177 semapv:UnspecifiedMatching -OMIM:611874 NENF skos:exactMatch hgnc:NENF semapv:UnspecifiedMatching +OMIM:611874 NENF skos:exactMatch hgnc.symbol:30384 semapv:UnspecifiedMatching +OMIM:611874 NENF skos:exactMatch hgnc.symbol:NENF semapv:UnspecifiedMatching OMIM:611874 NENF skos:exactMatch ncbigene:29937 semapv:UnspecifiedMatching -OMIM:611877 BAIAP2L1 skos:exactMatch hgnc:BAIAP2L1 semapv:UnspecifiedMatching +OMIM:611877 BAIAP2L1 skos:exactMatch hgnc.symbol:21649 semapv:UnspecifiedMatching +OMIM:611877 BAIAP2L1 skos:exactMatch hgnc.symbol:BAIAP2L1 semapv:UnspecifiedMatching OMIM:611877 BAIAP2L1 skos:exactMatch ncbigene:55971 semapv:UnspecifiedMatching -OMIM:611882 PNRC2 skos:exactMatch hgnc:PNRC2 semapv:UnspecifiedMatching +OMIM:611882 PNRC2 skos:exactMatch hgnc.symbol:23158 semapv:UnspecifiedMatching +OMIM:611882 PNRC2 skos:exactMatch hgnc.symbol:PNRC2 semapv:UnspecifiedMatching OMIM:611882 PNRC2 skos:exactMatch ncbigene:55629 semapv:UnspecifiedMatching -OMIM:611883 BCCIP skos:exactMatch hgnc:BCCIP semapv:UnspecifiedMatching +OMIM:611883 BCCIP skos:exactMatch hgnc.symbol:978 semapv:UnspecifiedMatching +OMIM:611883 BCCIP skos:exactMatch hgnc.symbol:BCCIP semapv:UnspecifiedMatching OMIM:611883 BCCIP skos:exactMatch ncbigene:56647 semapv:UnspecifiedMatching -OMIM:611885 SHARPIN skos:exactMatch hgnc:SHARPIN semapv:UnspecifiedMatching +OMIM:611885 SHARPIN skos:exactMatch hgnc.symbol:25321 semapv:UnspecifiedMatching +OMIM:611885 SHARPIN skos:exactMatch hgnc.symbol:SHARPIN semapv:UnspecifiedMatching OMIM:611885 SHARPIN skos:exactMatch ncbigene:81858 semapv:UnspecifiedMatching -OMIM:611887 UPK3B skos:exactMatch hgnc:UPK3B semapv:UnspecifiedMatching +OMIM:611887 UPK3B skos:exactMatch hgnc.symbol:21444 semapv:UnspecifiedMatching +OMIM:611887 UPK3B skos:exactMatch hgnc.symbol:UPK3B semapv:UnspecifiedMatching OMIM:611887 UPK3B skos:exactMatch ncbigene:105375355 semapv:UnspecifiedMatching -OMIM:611888 ERF skos:exactMatch hgnc:ERF semapv:UnspecifiedMatching +OMIM:611888 ERF skos:exactMatch hgnc.symbol:3444 semapv:UnspecifiedMatching +OMIM:611888 ERF skos:exactMatch hgnc.symbol:ERF semapv:UnspecifiedMatching OMIM:611888 ERF skos:exactMatch ncbigene:2077 semapv:UnspecifiedMatching -OMIM:611889 S100PBP skos:exactMatch hgnc:S100PBP semapv:UnspecifiedMatching +OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:25768 semapv:UnspecifiedMatching +OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:S100PBP semapv:UnspecifiedMatching OMIM:611889 S100PBP skos:exactMatch ncbigene:64766 semapv:UnspecifiedMatching -OMIM:611893 PLEKHG2 skos:exactMatch hgnc:PLEKHG2 semapv:UnspecifiedMatching +OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:29515 semapv:UnspecifiedMatching +OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:PLEKHG2 semapv:UnspecifiedMatching OMIM:611893 PLEKHG2 skos:exactMatch ncbigene:64857 semapv:UnspecifiedMatching -OMIM:611894 MIR140 skos:exactMatch hgnc:MIR140 semapv:UnspecifiedMatching +OMIM:611894 MIR140 skos:exactMatch hgnc.symbol:31527 semapv:UnspecifiedMatching +OMIM:611894 MIR140 skos:exactMatch hgnc.symbol:MIR140 semapv:UnspecifiedMatching OMIM:611894 MIR140 skos:exactMatch ncbigene:406932 semapv:UnspecifiedMatching -OMIM:611896 RTL1 skos:exactMatch hgnc:RTL1 semapv:UnspecifiedMatching +OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:14665 semapv:UnspecifiedMatching +OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:RTL1 semapv:UnspecifiedMatching OMIM:611896 RTL1 skos:exactMatch ncbigene:388015 semapv:UnspecifiedMatching -OMIM:611898 ENGASE skos:exactMatch hgnc:ENGASE semapv:UnspecifiedMatching +OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:24622 semapv:UnspecifiedMatching +OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:ENGASE semapv:UnspecifiedMatching OMIM:611898 ENGASE skos:exactMatch ncbigene:64772 semapv:UnspecifiedMatching -OMIM:611899 MIR203A skos:exactMatch hgnc:MIR203A semapv:UnspecifiedMatching +OMIM:611899 MIR203A skos:exactMatch hgnc.symbol:31581 semapv:UnspecifiedMatching +OMIM:611899 MIR203A skos:exactMatch hgnc.symbol:MIR203A semapv:UnspecifiedMatching OMIM:611899 MIR203A skos:exactMatch ncbigene:406986 semapv:UnspecifiedMatching -OMIM:611900 MPPE1 skos:exactMatch hgnc:MPPE1 semapv:UnspecifiedMatching +OMIM:611900 MPPE1 skos:exactMatch hgnc.symbol:15988 semapv:UnspecifiedMatching +OMIM:611900 MPPE1 skos:exactMatch hgnc.symbol:MPPE1 semapv:UnspecifiedMatching OMIM:611900 MPPE1 skos:exactMatch ncbigene:65258 semapv:UnspecifiedMatching -OMIM:611901 VWA1 skos:exactMatch hgnc:VWA1 semapv:UnspecifiedMatching +OMIM:611901 VWA1 skos:exactMatch hgnc.symbol:30910 semapv:UnspecifiedMatching +OMIM:611901 VWA1 skos:exactMatch hgnc.symbol:VWA1 semapv:UnspecifiedMatching OMIM:611901 VWA1 skos:exactMatch ncbigene:64856 semapv:UnspecifiedMatching -OMIM:611902 CCDC136 skos:exactMatch hgnc:CCDC136 semapv:UnspecifiedMatching +OMIM:611902 CCDC136 skos:exactMatch hgnc.symbol:22225 semapv:UnspecifiedMatching +OMIM:611902 CCDC136 skos:exactMatch hgnc.symbol:CCDC136 semapv:UnspecifiedMatching OMIM:611902 CCDC136 skos:exactMatch ncbigene:64753 semapv:UnspecifiedMatching -OMIM:611903 ZNF649 skos:exactMatch hgnc:ZNF649 semapv:UnspecifiedMatching +OMIM:611903 ZNF649 skos:exactMatch hgnc.symbol:25741 semapv:UnspecifiedMatching +OMIM:611903 ZNF649 skos:exactMatch hgnc.symbol:ZNF649 semapv:UnspecifiedMatching OMIM:611903 ZNF649 skos:exactMatch ncbigene:65251 semapv:UnspecifiedMatching -OMIM:611904 PLET1 skos:exactMatch hgnc:PLET1 semapv:UnspecifiedMatching +OMIM:611904 PLET1 skos:exactMatch hgnc.symbol:30053 semapv:UnspecifiedMatching +OMIM:611904 PLET1 skos:exactMatch hgnc.symbol:PLET1 semapv:UnspecifiedMatching OMIM:611904 PLET1 skos:exactMatch ncbigene:349633 semapv:UnspecifiedMatching -OMIM:611905 FNDC4 skos:exactMatch hgnc:FNDC4 semapv:UnspecifiedMatching +OMIM:611905 FNDC4 skos:exactMatch hgnc.symbol:20239 semapv:UnspecifiedMatching +OMIM:611905 FNDC4 skos:exactMatch hgnc.symbol:FNDC4 semapv:UnspecifiedMatching OMIM:611905 FNDC4 skos:exactMatch ncbigene:64838 semapv:UnspecifiedMatching -OMIM:611906 FNDC5 skos:exactMatch hgnc:FNDC5 semapv:UnspecifiedMatching +OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:20240 semapv:UnspecifiedMatching +OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:FNDC5 semapv:UnspecifiedMatching OMIM:611906 FNDC5 skos:exactMatch ncbigene:252995 semapv:UnspecifiedMatching -OMIM:611908 RFT1 skos:exactMatch hgnc:RFT1 semapv:UnspecifiedMatching +OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:30220 semapv:UnspecifiedMatching +OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:RFT1 semapv:UnspecifiedMatching OMIM:611908 RFT1 skos:exactMatch ncbigene:91869 semapv:UnspecifiedMatching -OMIM:611909 FNDC3B skos:exactMatch hgnc:FNDC3B semapv:UnspecifiedMatching +OMIM:611909 FNDC3B skos:exactMatch hgnc.symbol:24670 semapv:UnspecifiedMatching +OMIM:611909 FNDC3B skos:exactMatch hgnc.symbol:FNDC3B semapv:UnspecifiedMatching OMIM:611909 FNDC3B skos:exactMatch ncbigene:64778 semapv:UnspecifiedMatching OMIM:611910 SLC16A12 skos:exactMatch UMLS:C1427911 semapv:UnspecifiedMatching OMIM:611910 SLC16A12 skos:exactMatch UMLS:C4310859 semapv:UnspecifiedMatching -OMIM:611910 SLC16A12 skos:exactMatch hgnc:SLC16A12 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch hgnc.symbol:23094 semapv:UnspecifiedMatching +OMIM:611910 SLC16A12 skos:exactMatch hgnc.symbol:SLC16A12 semapv:UnspecifiedMatching OMIM:611910 SLC16A12 skos:exactMatch ncbigene:387700 semapv:UnspecifiedMatching -OMIM:611911 ISCU skos:exactMatch hgnc:ISCU semapv:UnspecifiedMatching +OMIM:611911 ISCU skos:exactMatch hgnc.symbol:29882 semapv:UnspecifiedMatching +OMIM:611911 ISCU skos:exactMatch hgnc.symbol:ISCU semapv:UnspecifiedMatching OMIM:611911 ISCU skos:exactMatch ncbigene:23479 semapv:UnspecifiedMatching -OMIM:611912 NUCKS1 skos:exactMatch hgnc:NUCKS1 semapv:UnspecifiedMatching +OMIM:611912 NUCKS1 skos:exactMatch hgnc.symbol:29923 semapv:UnspecifiedMatching +OMIM:611912 NUCKS1 skos:exactMatch hgnc.symbol:NUCKS1 semapv:UnspecifiedMatching OMIM:611912 NUCKS1 skos:exactMatch ncbigene:64710 semapv:UnspecifiedMatching +OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch Orphanet:261197 semapv:UnspecifiedMatching OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3552491 semapv:UnspecifiedMatching -OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch orphanet.ordo:261197 semapv:UnspecifiedMatching -OMIM:611914 TSC22D4 skos:exactMatch hgnc:TSC22D4 semapv:UnspecifiedMatching +OMIM:611914 TSC22D4 skos:exactMatch hgnc.symbol:21696 semapv:UnspecifiedMatching +OMIM:611914 TSC22D4 skos:exactMatch hgnc.symbol:TSC22D4 semapv:UnspecifiedMatching OMIM:611914 TSC22D4 skos:exactMatch ncbigene:81628 semapv:UnspecifiedMatching -OMIM:611915 VOPP1 skos:exactMatch hgnc:VOPP1 semapv:UnspecifiedMatching +OMIM:611915 VOPP1 skos:exactMatch hgnc.symbol:34518 semapv:UnspecifiedMatching +OMIM:611915 VOPP1 skos:exactMatch hgnc.symbol:VOPP1 semapv:UnspecifiedMatching OMIM:611915 VOPP1 skos:exactMatch ncbigene:81552 semapv:UnspecifiedMatching OMIM:611916 COL6A5 skos:exactMatch UMLS:C2239306 semapv:UnspecifiedMatching OMIM:611916 COL6A5 skos:exactMatch UMLS:C5394585 semapv:UnspecifiedMatching -OMIM:611916 COL6A5 skos:exactMatch hgnc:COL6A5 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch hgnc.symbol:26674 semapv:UnspecifiedMatching +OMIM:611916 COL6A5 skos:exactMatch hgnc.symbol:COL6A5 semapv:UnspecifiedMatching OMIM:611916 COL6A5 skos:exactMatch ncbigene:256076 semapv:UnspecifiedMatching -OMIM:611917 KDM8 skos:exactMatch hgnc:KDM8 semapv:UnspecifiedMatching +OMIM:611917 KDM8 skos:exactMatch hgnc.symbol:25840 semapv:UnspecifiedMatching +OMIM:611917 KDM8 skos:exactMatch hgnc.symbol:KDM8 semapv:UnspecifiedMatching OMIM:611917 KDM8 skos:exactMatch ncbigene:79831 semapv:UnspecifiedMatching -OMIM:611919 RIOX1 skos:exactMatch hgnc:RIOX1 semapv:UnspecifiedMatching +OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:20968 semapv:UnspecifiedMatching +OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:RIOX1 semapv:UnspecifiedMatching OMIM:611919 RIOX1 skos:exactMatch ncbigene:79697 semapv:UnspecifiedMatching -OMIM:611921 GJB7 skos:exactMatch hgnc:GJB7 semapv:UnspecifiedMatching +OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:16690 semapv:UnspecifiedMatching +OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:GJB7 semapv:UnspecifiedMatching OMIM:611921 GJB7 skos:exactMatch ncbigene:375519 semapv:UnspecifiedMatching -OMIM:611922 GJD4 skos:exactMatch hgnc:GJD4 semapv:UnspecifiedMatching +OMIM:611922 GJD4 skos:exactMatch hgnc.symbol:23296 semapv:UnspecifiedMatching +OMIM:611922 GJD4 skos:exactMatch hgnc.symbol:GJD4 semapv:UnspecifiedMatching OMIM:611922 GJD4 skos:exactMatch ncbigene:219770 semapv:UnspecifiedMatching -OMIM:611923 GJA9 skos:exactMatch hgnc:GJA9 semapv:UnspecifiedMatching +OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:19155 semapv:UnspecifiedMatching +OMIM:611923 GJA9 skos:exactMatch hgnc.symbol:GJA9 semapv:UnspecifiedMatching OMIM:611923 GJA9 skos:exactMatch ncbigene:81025 semapv:UnspecifiedMatching -OMIM:611924 GJA10 skos:exactMatch hgnc:GJA10 semapv:UnspecifiedMatching +OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:16995 semapv:UnspecifiedMatching +OMIM:611924 GJA10 skos:exactMatch hgnc.symbol:GJA10 semapv:UnspecifiedMatching OMIM:611924 GJA10 skos:exactMatch ncbigene:84694 semapv:UnspecifiedMatching OMIM:611925 GJC3 skos:exactMatch UMLS:C2677835 semapv:UnspecifiedMatching OMIM:611925 GJC3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:611925 GJC3 skos:exactMatch hgnc:GJC3 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:17495 semapv:UnspecifiedMatching +OMIM:611925 GJC3 skos:exactMatch hgnc.symbol:GJC3 semapv:UnspecifiedMatching OMIM:611925 GJC3 skos:exactMatch ncbigene:349149 semapv:UnspecifiedMatching -OMIM:611927 FAM83H skos:exactMatch hgnc:FAM83H semapv:UnspecifiedMatching +OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:24797 semapv:UnspecifiedMatching +OMIM:611927 FAM83H skos:exactMatch hgnc.symbol:FAM83H semapv:UnspecifiedMatching OMIM:611927 FAM83H skos:exactMatch ncbigene:286077 semapv:UnspecifiedMatching -OMIM:611930 ISG20L2 skos:exactMatch hgnc:ISG20L2 semapv:UnspecifiedMatching +OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:25745 semapv:UnspecifiedMatching +OMIM:611930 ISG20L2 skos:exactMatch hgnc.symbol:ISG20L2 semapv:UnspecifiedMatching OMIM:611930 ISG20L2 skos:exactMatch ncbigene:81875 semapv:UnspecifiedMatching -OMIM:611931 PPM1L skos:exactMatch hgnc:PPM1L semapv:UnspecifiedMatching +OMIM:611931 PPM1L skos:exactMatch hgnc.symbol:16381 semapv:UnspecifiedMatching +OMIM:611931 PPM1L skos:exactMatch hgnc.symbol:PPM1L semapv:UnspecifiedMatching OMIM:611931 PPM1L skos:exactMatch ncbigene:151742 semapv:UnspecifiedMatching -OMIM:611932 CISD1 skos:exactMatch hgnc:CISD1 semapv:UnspecifiedMatching +OMIM:611932 CISD1 skos:exactMatch hgnc.symbol:30880 semapv:UnspecifiedMatching +OMIM:611932 CISD1 skos:exactMatch hgnc.symbol:CISD1 semapv:UnspecifiedMatching OMIM:611932 CISD1 skos:exactMatch ncbigene:55847 semapv:UnspecifiedMatching -OMIM:611933 CISD3 skos:exactMatch hgnc:CISD3 semapv:UnspecifiedMatching +OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:27578 semapv:UnspecifiedMatching +OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:CISD3 semapv:UnspecifiedMatching OMIM:611933 CISD3 skos:exactMatch ncbigene:284106 semapv:UnspecifiedMatching -OMIM:611935 MMADHC skos:exactMatch hgnc:MMADHC semapv:UnspecifiedMatching +OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:25221 semapv:UnspecifiedMatching +OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:MMADHC semapv:UnspecifiedMatching OMIM:611935 MMADHC skos:exactMatch ncbigene:27249 semapv:UnspecifiedMatching -OMIM:611937 IGHD3-3 skos:exactMatch hgnc:IGHD3-3 semapv:UnspecifiedMatching +OMIM:611937 IGHD3-3 skos:exactMatch hgnc.symbol:5498 semapv:UnspecifiedMatching +OMIM:611937 IGHD3-3 skos:exactMatch hgnc.symbol:IGHD3-3 semapv:UnspecifiedMatching OMIM:611937 IGHD3-3 skos:exactMatch ncbigene:28501 semapv:UnspecifiedMatching -OMIM:611939 IGHV3-23 skos:exactMatch hgnc:IGHV3-23 semapv:UnspecifiedMatching +OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:5588 semapv:UnspecifiedMatching +OMIM:611939 IGHV3-23 skos:exactMatch hgnc.symbol:IGHV3-23 semapv:UnspecifiedMatching OMIM:611939 IGHV3-23 skos:exactMatch ncbigene:28442 semapv:UnspecifiedMatching -OMIM:611940 MBOAT4 skos:exactMatch hgnc:MBOAT4 semapv:UnspecifiedMatching +OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:32311 semapv:UnspecifiedMatching +OMIM:611940 MBOAT4 skos:exactMatch hgnc.symbol:MBOAT4 semapv:UnspecifiedMatching OMIM:611940 MBOAT4 skos:exactMatch ncbigene:619373 semapv:UnspecifiedMatching -OMIM:611941 ATAD2 skos:exactMatch hgnc:ATAD2 semapv:UnspecifiedMatching +OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:30123 semapv:UnspecifiedMatching +OMIM:611941 ATAD2 skos:exactMatch hgnc.symbol:ATAD2 semapv:UnspecifiedMatching OMIM:611941 ATAD2 skos:exactMatch ncbigene:29028 semapv:UnspecifiedMatching -OMIM:611946 UBXN6 skos:exactMatch hgnc:UBXN6 semapv:UnspecifiedMatching +OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:14928 semapv:UnspecifiedMatching +OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:UBXN6 semapv:UnspecifiedMatching OMIM:611946 UBXN6 skos:exactMatch ncbigene:80700 semapv:UnspecifiedMatching -OMIM:611947 NLRX1 skos:exactMatch hgnc:NLRX1 semapv:UnspecifiedMatching +OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:29890 semapv:UnspecifiedMatching +OMIM:611947 NLRX1 skos:exactMatch hgnc.symbol:NLRX1 semapv:UnspecifiedMatching OMIM:611947 NLRX1 skos:exactMatch ncbigene:79671 semapv:UnspecifiedMatching -OMIM:611949 MBOAT2 skos:exactMatch hgnc:MBOAT2 semapv:UnspecifiedMatching +OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:25193 semapv:UnspecifiedMatching +OMIM:611949 MBOAT2 skos:exactMatch hgnc.symbol:MBOAT2 semapv:UnspecifiedMatching OMIM:611949 MBOAT2 skos:exactMatch ncbigene:129642 semapv:UnspecifiedMatching -OMIM:611950 LPCAT3 skos:exactMatch hgnc:LPCAT3 semapv:UnspecifiedMatching +OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:30244 semapv:UnspecifiedMatching +OMIM:611950 LPCAT3 skos:exactMatch hgnc.symbol:LPCAT3 semapv:UnspecifiedMatching OMIM:611950 LPCAT3 skos:exactMatch ncbigene:10162 semapv:UnspecifiedMatching -OMIM:611951 B9D2 skos:exactMatch hgnc:B9D2 semapv:UnspecifiedMatching +OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:28636 semapv:UnspecifiedMatching +OMIM:611951 B9D2 skos:exactMatch hgnc.symbol:B9D2 semapv:UnspecifiedMatching OMIM:611951 B9D2 skos:exactMatch ncbigene:80776 semapv:UnspecifiedMatching -OMIM:611952 VPS28 skos:exactMatch hgnc:VPS28 semapv:UnspecifiedMatching +OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:18178 semapv:UnspecifiedMatching +OMIM:611952 VPS28 skos:exactMatch hgnc.symbol:VPS28 semapv:UnspecifiedMatching OMIM:611952 VPS28 skos:exactMatch ncbigene:51160 semapv:UnspecifiedMatching -OMIM:611954 MIR373 skos:exactMatch hgnc:MIR373 semapv:UnspecifiedMatching +OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:31787 semapv:UnspecifiedMatching +OMIM:611954 MIR373 skos:exactMatch hgnc.symbol:MIR373 semapv:UnspecifiedMatching OMIM:611954 MIR373 skos:exactMatch ncbigene:442918 semapv:UnspecifiedMatching -OMIM:611956 C3ORF52 skos:exactMatch hgnc:C3orf52 semapv:UnspecifiedMatching +OMIM:611956 C3ORF52 skos:exactMatch hgnc.symbol:26255 semapv:UnspecifiedMatching +OMIM:611956 C3ORF52 skos:exactMatch hgnc.symbol:C3orf52 semapv:UnspecifiedMatching OMIM:611956 C3ORF52 skos:exactMatch ncbigene:79669 semapv:UnspecifiedMatching -OMIM:611957 MIRN378 skos:exactMatch hgnc:MIR378A semapv:UnspecifiedMatching +OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:31871 semapv:UnspecifiedMatching +OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:MIR378A semapv:UnspecifiedMatching OMIM:611957 MIRN378 skos:exactMatch ncbigene:494327 semapv:UnspecifiedMatching OMIM:611962 hunter-macdonald syndrome skos:exactMatch UMLS:C2677745 semapv:UnspecifiedMatching OMIM:611963 acyl-coa thioesterase 7-like skos:exactMatch ncbigene:344967 semapv:UnspecifiedMatching -OMIM:611964 CYB5B skos:exactMatch hgnc:CYB5B semapv:UnspecifiedMatching +OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:24374 semapv:UnspecifiedMatching +OMIM:611964 CYB5B skos:exactMatch hgnc.symbol:CYB5B semapv:UnspecifiedMatching OMIM:611964 CYB5B skos:exactMatch ncbigene:80777 semapv:UnspecifiedMatching -OMIM:611965 THOC7 skos:exactMatch hgnc:THOC7 semapv:UnspecifiedMatching +OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:29874 semapv:UnspecifiedMatching +OMIM:611965 THOC7 skos:exactMatch hgnc.symbol:THOC7 semapv:UnspecifiedMatching OMIM:611965 THOC7 skos:exactMatch ncbigene:80145 semapv:UnspecifiedMatching -OMIM:611966 TRAPPC9 skos:exactMatch hgnc:TRAPPC9 semapv:UnspecifiedMatching +OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:30832 semapv:UnspecifiedMatching +OMIM:611966 TRAPPC9 skos:exactMatch hgnc.symbol:TRAPPC9 semapv:UnspecifiedMatching OMIM:611966 TRAPPC9 skos:exactMatch ncbigene:83696 semapv:UnspecifiedMatching -OMIM:611967 KLHL8 skos:exactMatch hgnc:KLHL8 semapv:UnspecifiedMatching +OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:18644 semapv:UnspecifiedMatching +OMIM:611967 KLHL8 skos:exactMatch hgnc.symbol:KLHL8 semapv:UnspecifiedMatching OMIM:611967 KLHL8 skos:exactMatch ncbigene:57563 semapv:UnspecifiedMatching -OMIM:611968 CSTF2T skos:exactMatch hgnc:CSTF2T semapv:UnspecifiedMatching +OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:17086 semapv:UnspecifiedMatching +OMIM:611968 CSTF2T skos:exactMatch hgnc.symbol:CSTF2T semapv:UnspecifiedMatching OMIM:611968 CSTF2T skos:exactMatch ncbigene:23283 semapv:UnspecifiedMatching -OMIM:611969 MOB2 skos:exactMatch hgnc:MOB2 semapv:UnspecifiedMatching +OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:24904 semapv:UnspecifiedMatching +OMIM:611969 MOB2 skos:exactMatch hgnc.symbol:MOB2 semapv:UnspecifiedMatching OMIM:611969 MOB2 skos:exactMatch ncbigene:81532 semapv:UnspecifiedMatching -OMIM:611970 NIFK skos:exactMatch hgnc:NIFK semapv:UnspecifiedMatching +OMIM:611970 NIFK skos:exactMatch hgnc.symbol:17838 semapv:UnspecifiedMatching +OMIM:611970 NIFK skos:exactMatch hgnc.symbol:NIFK semapv:UnspecifiedMatching OMIM:611970 NIFK skos:exactMatch ncbigene:84365 semapv:UnspecifiedMatching -OMIM:611971 MRPS2 skos:exactMatch hgnc:MRPS2 semapv:UnspecifiedMatching +OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:14495 semapv:UnspecifiedMatching +OMIM:611971 MRPS2 skos:exactMatch hgnc.symbol:MRPS2 semapv:UnspecifiedMatching OMIM:611971 MRPS2 skos:exactMatch ncbigene:51116 semapv:UnspecifiedMatching -OMIM:611972 MRPS5 skos:exactMatch hgnc:MRPS5 semapv:UnspecifiedMatching +OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:14498 semapv:UnspecifiedMatching +OMIM:611972 MRPS5 skos:exactMatch hgnc.symbol:MRPS5 semapv:UnspecifiedMatching OMIM:611972 MRPS5 skos:exactMatch ncbigene:64969 semapv:UnspecifiedMatching -OMIM:611973 MRPS6 skos:exactMatch hgnc:MRPS6 semapv:UnspecifiedMatching +OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:14051 semapv:UnspecifiedMatching +OMIM:611973 MRPS6 skos:exactMatch hgnc.symbol:MRPS6 semapv:UnspecifiedMatching OMIM:611973 MRPS6 skos:exactMatch ncbigene:64968 semapv:UnspecifiedMatching -OMIM:611974 MRPS7 skos:exactMatch hgnc:MRPS7 semapv:UnspecifiedMatching +OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:14499 semapv:UnspecifiedMatching +OMIM:611974 MRPS7 skos:exactMatch hgnc.symbol:MRPS7 semapv:UnspecifiedMatching OMIM:611974 MRPS7 skos:exactMatch ncbigene:51081 semapv:UnspecifiedMatching -OMIM:611975 MRPS9 skos:exactMatch hgnc:MRPS9 semapv:UnspecifiedMatching +OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:14501 semapv:UnspecifiedMatching +OMIM:611975 MRPS9 skos:exactMatch hgnc.symbol:MRPS9 semapv:UnspecifiedMatching OMIM:611975 MRPS9 skos:exactMatch ncbigene:64965 semapv:UnspecifiedMatching -OMIM:611976 MRPS10 skos:exactMatch hgnc:MRPS10 semapv:UnspecifiedMatching +OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:14502 semapv:UnspecifiedMatching +OMIM:611976 MRPS10 skos:exactMatch hgnc.symbol:MRPS10 semapv:UnspecifiedMatching OMIM:611976 MRPS10 skos:exactMatch ncbigene:55173 semapv:UnspecifiedMatching -OMIM:611977 MRPS11 skos:exactMatch hgnc:MRPS11 semapv:UnspecifiedMatching +OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:14050 semapv:UnspecifiedMatching +OMIM:611977 MRPS11 skos:exactMatch hgnc.symbol:MRPS11 semapv:UnspecifiedMatching OMIM:611977 MRPS11 skos:exactMatch ncbigene:64963 semapv:UnspecifiedMatching -OMIM:611978 MRPS14 skos:exactMatch hgnc:MRPS14 semapv:UnspecifiedMatching +OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:14049 semapv:UnspecifiedMatching +OMIM:611978 MRPS14 skos:exactMatch hgnc.symbol:MRPS14 semapv:UnspecifiedMatching OMIM:611978 MRPS14 skos:exactMatch ncbigene:63931 semapv:UnspecifiedMatching -OMIM:611979 MRPS15 skos:exactMatch hgnc:MRPS15 semapv:UnspecifiedMatching +OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:14504 semapv:UnspecifiedMatching +OMIM:611979 MRPS15 skos:exactMatch hgnc.symbol:MRPS15 semapv:UnspecifiedMatching OMIM:611979 MRPS15 skos:exactMatch ncbigene:64960 semapv:UnspecifiedMatching -OMIM:611980 MRPS17 skos:exactMatch hgnc:MRPS17 semapv:UnspecifiedMatching +OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:14047 semapv:UnspecifiedMatching +OMIM:611980 MRPS17 skos:exactMatch hgnc.symbol:MRPS17 semapv:UnspecifiedMatching OMIM:611980 MRPS17 skos:exactMatch ncbigene:51373 semapv:UnspecifiedMatching -OMIM:611981 MRPS18A skos:exactMatch hgnc:MRPS18A semapv:UnspecifiedMatching +OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:14515 semapv:UnspecifiedMatching +OMIM:611981 MRPS18A skos:exactMatch hgnc.symbol:MRPS18A semapv:UnspecifiedMatching OMIM:611981 MRPS18A skos:exactMatch ncbigene:55168 semapv:UnspecifiedMatching -OMIM:611982 MRPS18B skos:exactMatch hgnc:MRPS18B semapv:UnspecifiedMatching +OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:14516 semapv:UnspecifiedMatching +OMIM:611982 MRPS18B skos:exactMatch hgnc.symbol:MRPS18B semapv:UnspecifiedMatching OMIM:611982 MRPS18B skos:exactMatch ncbigene:28973 semapv:UnspecifiedMatching -OMIM:611983 MRPS18C skos:exactMatch hgnc:MRPS18C semapv:UnspecifiedMatching +OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:16633 semapv:UnspecifiedMatching +OMIM:611983 MRPS18C skos:exactMatch hgnc.symbol:MRPS18C semapv:UnspecifiedMatching OMIM:611983 MRPS18C skos:exactMatch ncbigene:51023 semapv:UnspecifiedMatching -OMIM:611984 MRPS21 skos:exactMatch hgnc:MRPS21 semapv:UnspecifiedMatching +OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:14046 semapv:UnspecifiedMatching +OMIM:611984 MRPS21 skos:exactMatch hgnc.symbol:MRPS21 semapv:UnspecifiedMatching OMIM:611984 MRPS21 skos:exactMatch ncbigene:54460 semapv:UnspecifiedMatching OMIM:611985 MRPS23 skos:exactMatch UMLS:C1422714 semapv:UnspecifiedMatching OMIM:611985 MRPS23 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching -OMIM:611985 MRPS23 skos:exactMatch hgnc:MRPS23 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:14509 semapv:UnspecifiedMatching +OMIM:611985 MRPS23 skos:exactMatch hgnc.symbol:MRPS23 semapv:UnspecifiedMatching OMIM:611985 MRPS23 skos:exactMatch ncbigene:51649 semapv:UnspecifiedMatching -OMIM:611986 MRPS24 skos:exactMatch hgnc:MRPS24 semapv:UnspecifiedMatching +OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:14510 semapv:UnspecifiedMatching +OMIM:611986 MRPS24 skos:exactMatch hgnc.symbol:MRPS24 semapv:UnspecifiedMatching OMIM:611986 MRPS24 skos:exactMatch ncbigene:64951 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch UMLS:C1422716 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching -OMIM:611987 MRPS25 skos:exactMatch hgnc:MRPS25 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:14511 semapv:UnspecifiedMatching +OMIM:611987 MRPS25 skos:exactMatch hgnc.symbol:MRPS25 semapv:UnspecifiedMatching OMIM:611987 MRPS25 skos:exactMatch ncbigene:64432 semapv:UnspecifiedMatching -OMIM:611988 MRPS26 skos:exactMatch hgnc:MRPS26 semapv:UnspecifiedMatching +OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:14045 semapv:UnspecifiedMatching +OMIM:611988 MRPS26 skos:exactMatch hgnc.symbol:MRPS26 semapv:UnspecifiedMatching OMIM:611988 MRPS26 skos:exactMatch ncbigene:64949 semapv:UnspecifiedMatching -OMIM:611989 MRPS27 skos:exactMatch hgnc:MRPS27 semapv:UnspecifiedMatching +OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:14512 semapv:UnspecifiedMatching +OMIM:611989 MRPS27 skos:exactMatch hgnc.symbol:MRPS27 semapv:UnspecifiedMatching OMIM:611989 MRPS27 skos:exactMatch ncbigene:23107 semapv:UnspecifiedMatching OMIM:611990 MRPS28 skos:exactMatch UMLS:C1422718 semapv:UnspecifiedMatching OMIM:611990 MRPS28 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching -OMIM:611990 MRPS28 skos:exactMatch hgnc:MRPS28 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:14513 semapv:UnspecifiedMatching +OMIM:611990 MRPS28 skos:exactMatch hgnc.symbol:MRPS28 semapv:UnspecifiedMatching OMIM:611990 MRPS28 skos:exactMatch ncbigene:28957 semapv:UnspecifiedMatching -OMIM:611991 MRPS30 skos:exactMatch hgnc:MRPS30 semapv:UnspecifiedMatching +OMIM:611991 MRPS30 skos:exactMatch hgnc.symbol:8769 semapv:UnspecifiedMatching +OMIM:611991 MRPS30 skos:exactMatch hgnc.symbol:MRPS30 semapv:UnspecifiedMatching OMIM:611991 MRPS30 skos:exactMatch ncbigene:10884 semapv:UnspecifiedMatching -OMIM:611992 MRPS31 skos:exactMatch hgnc:MRPS31 semapv:UnspecifiedMatching +OMIM:611992 MRPS31 skos:exactMatch hgnc.symbol:16632 semapv:UnspecifiedMatching +OMIM:611992 MRPS31 skos:exactMatch hgnc.symbol:MRPS31 semapv:UnspecifiedMatching OMIM:611992 MRPS31 skos:exactMatch ncbigene:10240 semapv:UnspecifiedMatching -OMIM:611993 MRPS33 skos:exactMatch hgnc:MRPS33 semapv:UnspecifiedMatching +OMIM:611993 MRPS33 skos:exactMatch hgnc.symbol:16634 semapv:UnspecifiedMatching +OMIM:611993 MRPS33 skos:exactMatch hgnc.symbol:MRPS33 semapv:UnspecifiedMatching OMIM:611993 MRPS33 skos:exactMatch ncbigene:51650 semapv:UnspecifiedMatching -OMIM:611994 MRPS34 skos:exactMatch hgnc:MRPS34 semapv:UnspecifiedMatching +OMIM:611994 MRPS34 skos:exactMatch hgnc.symbol:16618 semapv:UnspecifiedMatching +OMIM:611994 MRPS34 skos:exactMatch hgnc.symbol:MRPS34 semapv:UnspecifiedMatching OMIM:611994 MRPS34 skos:exactMatch ncbigene:65993 semapv:UnspecifiedMatching -OMIM:611995 MRPS35 skos:exactMatch hgnc:MRPS35 semapv:UnspecifiedMatching +OMIM:611995 MRPS35 skos:exactMatch hgnc.symbol:16635 semapv:UnspecifiedMatching +OMIM:611995 MRPS35 skos:exactMatch hgnc.symbol:MRPS35 semapv:UnspecifiedMatching OMIM:611995 MRPS35 skos:exactMatch ncbigene:60488 semapv:UnspecifiedMatching -OMIM:611996 MRPS36 skos:exactMatch hgnc:KGD4 semapv:UnspecifiedMatching +OMIM:611996 MRPS36 skos:exactMatch hgnc.symbol:KGD4 semapv:UnspecifiedMatching OMIM:611996 MRPS36 skos:exactMatch ncbigene:92259 semapv:UnspecifiedMatching -OMIM:611997 MRP63 skos:exactMatch hgnc:MRPL57 semapv:UnspecifiedMatching +OMIM:611997 MRP63 skos:exactMatch hgnc.symbol:14514 semapv:UnspecifiedMatching +OMIM:611997 MRP63 skos:exactMatch hgnc.symbol:MRPL57 semapv:UnspecifiedMatching OMIM:611997 MRP63 skos:exactMatch ncbigene:78988 semapv:UnspecifiedMatching -OMIM:611998 CREB3L3 skos:exactMatch hgnc:CREB3L3 semapv:UnspecifiedMatching +OMIM:611998 CREB3L3 skos:exactMatch hgnc.symbol:18855 semapv:UnspecifiedMatching +OMIM:611998 CREB3L3 skos:exactMatch hgnc.symbol:CREB3L3 semapv:UnspecifiedMatching OMIM:611998 CREB3L3 skos:exactMatch ncbigene:84699 semapv:UnspecifiedMatching -OMIM:611999 RAB11FIP4 skos:exactMatch hgnc:RAB11FIP4 semapv:UnspecifiedMatching +OMIM:611999 RAB11FIP4 skos:exactMatch hgnc.symbol:30267 semapv:UnspecifiedMatching +OMIM:611999 RAB11FIP4 skos:exactMatch hgnc.symbol:RAB11FIP4 semapv:UnspecifiedMatching OMIM:611999 RAB11FIP4 skos:exactMatch ncbigene:84440 semapv:UnspecifiedMatching -OMIM:612000 TRIM66 skos:exactMatch hgnc:TRIM66 semapv:UnspecifiedMatching +OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:29005 semapv:UnspecifiedMatching +OMIM:612000 TRIM66 skos:exactMatch hgnc.symbol:TRIM66 semapv:UnspecifiedMatching OMIM:612000 TRIM66 skos:exactMatch ncbigene:9866 semapv:UnspecifiedMatching +OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch Orphanet:199318 semapv:UnspecifiedMatching OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch UMLS:C2677613 semapv:UnspecifiedMatching -OMIM:612001 chromosome 15q13.3 deletion syndrome skos:exactMatch orphanet.ordo:199318 semapv:UnspecifiedMatching -OMIM:612002 DEPDC1 skos:exactMatch hgnc:DEPDC1 semapv:UnspecifiedMatching +OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:22949 semapv:UnspecifiedMatching +OMIM:612002 DEPDC1 skos:exactMatch hgnc.symbol:DEPDC1 semapv:UnspecifiedMatching OMIM:612002 DEPDC1 skos:exactMatch ncbigene:55635 semapv:UnspecifiedMatching -OMIM:612003 GIGYF2 skos:exactMatch hgnc:GIGYF2 semapv:UnspecifiedMatching +OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:11960 semapv:UnspecifiedMatching +OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:GIGYF2 semapv:UnspecifiedMatching OMIM:612003 GIGYF2 skos:exactMatch ncbigene:26058 semapv:UnspecifiedMatching -OMIM:612012 ZFYVE26 skos:exactMatch hgnc:ZFYVE26 semapv:UnspecifiedMatching +OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:20761 semapv:UnspecifiedMatching +OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:ZFYVE26 semapv:UnspecifiedMatching OMIM:612012 ZFYVE26 skos:exactMatch ncbigene:23503 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C2240338 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C2676790 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C3280898 semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching -OMIM:612013 CC2D2A skos:exactMatch hgnc:CC2D2A semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch hgnc.symbol:29253 semapv:UnspecifiedMatching +OMIM:612013 CC2D2A skos:exactMatch hgnc.symbol:CC2D2A semapv:UnspecifiedMatching OMIM:612013 CC2D2A skos:exactMatch ncbigene:57545 semapv:UnspecifiedMatching -OMIM:612014 TTC21B skos:exactMatch hgnc:TTC21B semapv:UnspecifiedMatching +OMIM:612014 TTC21B skos:exactMatch hgnc.symbol:25660 semapv:UnspecifiedMatching +OMIM:612014 TTC21B skos:exactMatch hgnc.symbol:TTC21B semapv:UnspecifiedMatching OMIM:612014 TTC21B skos:exactMatch ncbigene:79809 semapv:UnspecifiedMatching +OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching -OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch orphanet.ordo:139485 semapv:UnspecifiedMatching -OMIM:612019 ISX skos:exactMatch hgnc:ISX semapv:UnspecifiedMatching +OMIM:612019 ISX skos:exactMatch hgnc.symbol:28084 semapv:UnspecifiedMatching +OMIM:612019 ISX skos:exactMatch hgnc.symbol:ISX semapv:UnspecifiedMatching OMIM:612019 ISX skos:exactMatch ncbigene:91464 semapv:UnspecifiedMatching -OMIM:612021 OTUD6B skos:exactMatch hgnc:OTUD6B semapv:UnspecifiedMatching +OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:24281 semapv:UnspecifiedMatching +OMIM:612021 OTUD6B skos:exactMatch hgnc.symbol:OTUD6B semapv:UnspecifiedMatching OMIM:612021 OTUD6B skos:exactMatch ncbigene:51633 semapv:UnspecifiedMatching -OMIM:612022 OTUD1 skos:exactMatch hgnc:OTUD1 semapv:UnspecifiedMatching +OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:27346 semapv:UnspecifiedMatching +OMIM:612022 OTUD1 skos:exactMatch hgnc.symbol:OTUD1 semapv:UnspecifiedMatching OMIM:612022 OTUD1 skos:exactMatch ncbigene:220213 semapv:UnspecifiedMatching OMIM:612023 YOD1 skos:exactMatch UMLS:C1823894 semapv:UnspecifiedMatching -OMIM:612023 YOD1 skos:exactMatch hgnc:YOD1 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:25035 semapv:UnspecifiedMatching +OMIM:612023 YOD1 skos:exactMatch hgnc.symbol:YOD1 semapv:UnspecifiedMatching OMIM:612023 YOD1 skos:exactMatch ncbigene:55432 semapv:UnspecifiedMatching -OMIM:612024 OTUD7A skos:exactMatch hgnc:OTUD7A semapv:UnspecifiedMatching +OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:20718 semapv:UnspecifiedMatching +OMIM:612024 OTUD7A skos:exactMatch hgnc.symbol:OTUD7A semapv:UnspecifiedMatching OMIM:612024 OTUD7A skos:exactMatch ncbigene:161725 semapv:UnspecifiedMatching -OMIM:612025 IYD skos:exactMatch hgnc:IYD semapv:UnspecifiedMatching +OMIM:612025 IYD skos:exactMatch hgnc.symbol:21071 semapv:UnspecifiedMatching +OMIM:612025 IYD skos:exactMatch hgnc.symbol:IYD semapv:UnspecifiedMatching OMIM:612025 IYD skos:exactMatch ncbigene:389434 semapv:UnspecifiedMatching -OMIM:612026 LARP7 skos:exactMatch hgnc:LARP7 semapv:UnspecifiedMatching +OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:24912 semapv:UnspecifiedMatching +OMIM:612026 LARP7 skos:exactMatch hgnc.symbol:LARP7 semapv:UnspecifiedMatching OMIM:612026 LARP7 skos:exactMatch ncbigene:51574 semapv:UnspecifiedMatching -OMIM:612027 TAMALIN skos:exactMatch hgnc:TAMALIN semapv:UnspecifiedMatching +OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:18707 semapv:UnspecifiedMatching +OMIM:612027 TAMALIN skos:exactMatch hgnc.symbol:TAMALIN semapv:UnspecifiedMatching OMIM:612027 TAMALIN skos:exactMatch ncbigene:160622 semapv:UnspecifiedMatching -OMIM:612028 FITM1 skos:exactMatch hgnc:FITM1 semapv:UnspecifiedMatching +OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:33714 semapv:UnspecifiedMatching +OMIM:612028 FITM1 skos:exactMatch hgnc.symbol:FITM1 semapv:UnspecifiedMatching OMIM:612028 FITM1 skos:exactMatch ncbigene:161247 semapv:UnspecifiedMatching -OMIM:612029 FITM2 skos:exactMatch hgnc:FITM2 semapv:UnspecifiedMatching +OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:16135 semapv:UnspecifiedMatching +OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:FITM2 semapv:UnspecifiedMatching OMIM:612029 FITM2 skos:exactMatch ncbigene:128486 semapv:UnspecifiedMatching -OMIM:612031 INHBE skos:exactMatch hgnc:INHBE semapv:UnspecifiedMatching +OMIM:612031 INHBE skos:exactMatch hgnc.symbol:24029 semapv:UnspecifiedMatching +OMIM:612031 INHBE skos:exactMatch hgnc.symbol:INHBE semapv:UnspecifiedMatching OMIM:612031 INHBE skos:exactMatch ncbigene:83729 semapv:UnspecifiedMatching OMIM:612032 DPY30 skos:exactMatch UMLS:C2239360 semapv:UnspecifiedMatching -OMIM:612032 DPY30 skos:exactMatch hgnc:DPY30 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:24590 semapv:UnspecifiedMatching +OMIM:612032 DPY30 skos:exactMatch hgnc.symbol:DPY30 semapv:UnspecifiedMatching OMIM:612032 DPY30 skos:exactMatch ncbigene:84661 semapv:UnspecifiedMatching -OMIM:612033 PAGR1 skos:exactMatch hgnc:PAGR1 semapv:UnspecifiedMatching +OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:28707 semapv:UnspecifiedMatching +OMIM:612033 PAGR1 skos:exactMatch hgnc.symbol:PAGR1 semapv:UnspecifiedMatching OMIM:612033 PAGR1 skos:exactMatch ncbigene:79447 semapv:UnspecifiedMatching -OMIM:612034 APC2 skos:exactMatch hgnc:APC2 semapv:UnspecifiedMatching +OMIM:612034 APC2 skos:exactMatch hgnc.symbol:24036 semapv:UnspecifiedMatching +OMIM:612034 APC2 skos:exactMatch hgnc.symbol:APC2 semapv:UnspecifiedMatching OMIM:612034 APC2 skos:exactMatch ncbigene:10297 semapv:UnspecifiedMatching -OMIM:612035 AARS2 skos:exactMatch hgnc:AARS2 semapv:UnspecifiedMatching +OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:21022 semapv:UnspecifiedMatching +OMIM:612035 AARS2 skos:exactMatch hgnc.symbol:AARS2 semapv:UnspecifiedMatching OMIM:612035 AARS2 skos:exactMatch ncbigene:57505 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch UMLS:C1826544 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching -OMIM:612036 PARS2 skos:exactMatch hgnc:PARS2 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:30563 semapv:UnspecifiedMatching +OMIM:612036 PARS2 skos:exactMatch hgnc.symbol:PARS2 semapv:UnspecifiedMatching OMIM:612036 PARS2 skos:exactMatch ncbigene:25973 semapv:UnspecifiedMatching -OMIM:612037 MUL1 skos:exactMatch hgnc:MUL1 semapv:UnspecifiedMatching +OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:25762 semapv:UnspecifiedMatching +OMIM:612037 MUL1 skos:exactMatch hgnc.symbol:MUL1 semapv:UnspecifiedMatching OMIM:612037 MUL1 skos:exactMatch ncbigene:79594 semapv:UnspecifiedMatching -OMIM:612038 TMED4 skos:exactMatch hgnc:TMED4 semapv:UnspecifiedMatching +OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:22301 semapv:UnspecifiedMatching +OMIM:612038 TMED4 skos:exactMatch hgnc.symbol:TMED4 semapv:UnspecifiedMatching OMIM:612038 TMED4 skos:exactMatch ncbigene:222068 semapv:UnspecifiedMatching -OMIM:612039 AGPAT7 skos:exactMatch hgnc:LPCAT4 semapv:UnspecifiedMatching +OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:30059 semapv:UnspecifiedMatching +OMIM:612039 AGPAT7 skos:exactMatch hgnc.symbol:LPCAT4 semapv:UnspecifiedMatching OMIM:612039 AGPAT7 skos:exactMatch ncbigene:254531 semapv:UnspecifiedMatching -OMIM:612040 LPCAT2 skos:exactMatch hgnc:LPCAT2 semapv:UnspecifiedMatching +OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:26032 semapv:UnspecifiedMatching +OMIM:612040 LPCAT2 skos:exactMatch hgnc.symbol:LPCAT2 semapv:UnspecifiedMatching OMIM:612040 LPCAT2 skos:exactMatch ncbigene:54947 semapv:UnspecifiedMatching -OMIM:612041 RNF212 skos:exactMatch hgnc:RNF212 semapv:UnspecifiedMatching +OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:27729 semapv:UnspecifiedMatching +OMIM:612041 RNF212 skos:exactMatch hgnc.symbol:RNF212 semapv:UnspecifiedMatching OMIM:612041 RNF212 skos:exactMatch ncbigene:285498 semapv:UnspecifiedMatching -OMIM:612043 MIR371A skos:exactMatch hgnc:MIR371A semapv:UnspecifiedMatching +OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:31785 semapv:UnspecifiedMatching +OMIM:612043 MIR371A skos:exactMatch hgnc.symbol:MIR371A semapv:UnspecifiedMatching OMIM:612043 MIR371A skos:exactMatch ncbigene:442916 semapv:UnspecifiedMatching -OMIM:612044 MIRN372 skos:exactMatch hgnc:MIR372 semapv:UnspecifiedMatching +OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:31786 semapv:UnspecifiedMatching +OMIM:612044 MIRN372 skos:exactMatch hgnc.symbol:MIR372 semapv:UnspecifiedMatching OMIM:612044 MIRN372 skos:exactMatch ncbigene:442917 semapv:UnspecifiedMatching -OMIM:612045 C1QTNF3 skos:exactMatch hgnc:C1QTNF3 semapv:UnspecifiedMatching +OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:14326 semapv:UnspecifiedMatching +OMIM:612045 C1QTNF3 skos:exactMatch hgnc.symbol:C1QTNF3 semapv:UnspecifiedMatching OMIM:612045 C1QTNF3 skos:exactMatch ncbigene:114899 semapv:UnspecifiedMatching -OMIM:612046 E2F7 skos:exactMatch hgnc:E2F7 semapv:UnspecifiedMatching +OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:23820 semapv:UnspecifiedMatching +OMIM:612046 E2F7 skos:exactMatch hgnc.symbol:E2F7 semapv:UnspecifiedMatching OMIM:612046 E2F7 skos:exactMatch ncbigene:144455 semapv:UnspecifiedMatching -OMIM:612047 E2F8 skos:exactMatch hgnc:E2F8 semapv:UnspecifiedMatching +OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:24727 semapv:UnspecifiedMatching +OMIM:612047 E2F8 skos:exactMatch hgnc.symbol:E2F8 semapv:UnspecifiedMatching OMIM:612047 E2F8 skos:exactMatch ncbigene:79733 semapv:UnspecifiedMatching -OMIM:612048 TMEM43 skos:exactMatch hgnc:TMEM43 semapv:UnspecifiedMatching +OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:28472 semapv:UnspecifiedMatching +OMIM:612048 TMEM43 skos:exactMatch hgnc.symbol:TMEM43 semapv:UnspecifiedMatching OMIM:612048 TMEM43 skos:exactMatch ncbigene:79188 semapv:UnspecifiedMatching -OMIM:612049 RIOX2 skos:exactMatch hgnc:RIOX2 semapv:UnspecifiedMatching +OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:19441 semapv:UnspecifiedMatching +OMIM:612049 RIOX2 skos:exactMatch hgnc.symbol:RIOX2 semapv:UnspecifiedMatching OMIM:612049 RIOX2 skos:exactMatch ncbigene:84864 semapv:UnspecifiedMatching -OMIM:612050 NDFIP1 skos:exactMatch hgnc:NDFIP1 semapv:UnspecifiedMatching +OMIM:612050 NDFIP1 skos:exactMatch hgnc.symbol:17592 semapv:UnspecifiedMatching +OMIM:612050 NDFIP1 skos:exactMatch hgnc.symbol:NDFIP1 semapv:UnspecifiedMatching OMIM:612050 NDFIP1 skos:exactMatch ncbigene:80762 semapv:UnspecifiedMatching -OMIM:612051 BEAN1 skos:exactMatch hgnc:BEAN1 semapv:UnspecifiedMatching +OMIM:612051 BEAN1 skos:exactMatch hgnc.symbol:24160 semapv:UnspecifiedMatching +OMIM:612051 BEAN1 skos:exactMatch hgnc.symbol:BEAN1 semapv:UnspecifiedMatching OMIM:612051 BEAN1 skos:exactMatch ncbigene:146227 semapv:UnspecifiedMatching -OMIM:612053 ZFP36L2 skos:exactMatch hgnc:ZFP36L2 semapv:UnspecifiedMatching +OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:1108 semapv:UnspecifiedMatching +OMIM:612053 ZFP36L2 skos:exactMatch hgnc.symbol:ZFP36L2 semapv:UnspecifiedMatching OMIM:612053 ZFP36L2 skos:exactMatch ncbigene:678 semapv:UnspecifiedMatching OMIM:612054 CNOT9 skos:exactMatch UMLS:C1419755 semapv:UnspecifiedMatching -OMIM:612054 CNOT9 skos:exactMatch hgnc:CNOT9 semapv:UnspecifiedMatching +OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:10445 semapv:UnspecifiedMatching +OMIM:612054 CNOT9 skos:exactMatch hgnc.symbol:CNOT9 semapv:UnspecifiedMatching OMIM:612054 CNOT9 skos:exactMatch ncbigene:9125 semapv:UnspecifiedMatching -OMIM:612055 RPS27L skos:exactMatch hgnc:RPS27L semapv:UnspecifiedMatching +OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:18476 semapv:UnspecifiedMatching +OMIM:612055 RPS27L skos:exactMatch hgnc.symbol:RPS27L semapv:UnspecifiedMatching OMIM:612055 RPS27L skos:exactMatch ncbigene:51065 semapv:UnspecifiedMatching -OMIM:612056 GET4 skos:exactMatch hgnc:GET4 semapv:UnspecifiedMatching +OMIM:612056 GET4 skos:exactMatch hgnc.symbol:21690 semapv:UnspecifiedMatching +OMIM:612056 GET4 skos:exactMatch hgnc.symbol:GET4 semapv:UnspecifiedMatching OMIM:612056 GET4 skos:exactMatch ncbigene:51608 semapv:UnspecifiedMatching -OMIM:612057 SAPCD2 skos:exactMatch hgnc:SAPCD2 semapv:UnspecifiedMatching +OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:28055 semapv:UnspecifiedMatching +OMIM:612057 SAPCD2 skos:exactMatch hgnc.symbol:SAPCD2 semapv:UnspecifiedMatching OMIM:612057 SAPCD2 skos:exactMatch ncbigene:89958 semapv:UnspecifiedMatching OMIM:612058 SAMM50 skos:exactMatch UMLS:C1826973 semapv:UnspecifiedMatching -OMIM:612058 SAMM50 skos:exactMatch hgnc:SAMM50 semapv:UnspecifiedMatching +OMIM:612058 SAMM50 skos:exactMatch hgnc.symbol:24276 semapv:UnspecifiedMatching +OMIM:612058 SAMM50 skos:exactMatch hgnc.symbol:SAMM50 semapv:UnspecifiedMatching OMIM:612058 SAMM50 skos:exactMatch ncbigene:25813 semapv:UnspecifiedMatching -OMIM:612059 LARP1 skos:exactMatch hgnc:LARP1 semapv:UnspecifiedMatching +OMIM:612059 LARP1 skos:exactMatch hgnc.symbol:29531 semapv:UnspecifiedMatching +OMIM:612059 LARP1 skos:exactMatch hgnc.symbol:LARP1 semapv:UnspecifiedMatching OMIM:612059 LARP1 skos:exactMatch ncbigene:23367 semapv:UnspecifiedMatching -OMIM:612060 ZNRF1 skos:exactMatch hgnc:ZNRF1 semapv:UnspecifiedMatching +OMIM:612060 ZNRF1 skos:exactMatch hgnc.symbol:18452 semapv:UnspecifiedMatching +OMIM:612060 ZNRF1 skos:exactMatch hgnc.symbol:ZNRF1 semapv:UnspecifiedMatching OMIM:612060 ZNRF1 skos:exactMatch ncbigene:84937 semapv:UnspecifiedMatching -OMIM:612061 ZNRF2 skos:exactMatch hgnc:ZNRF2 semapv:UnspecifiedMatching +OMIM:612061 ZNRF2 skos:exactMatch hgnc.symbol:22316 semapv:UnspecifiedMatching +OMIM:612061 ZNRF2 skos:exactMatch hgnc.symbol:ZNRF2 semapv:UnspecifiedMatching OMIM:612061 ZNRF2 skos:exactMatch ncbigene:223082 semapv:UnspecifiedMatching -OMIM:612062 ZNRF3 skos:exactMatch hgnc:ZNRF3 semapv:UnspecifiedMatching +OMIM:612062 ZNRF3 skos:exactMatch hgnc.symbol:18126 semapv:UnspecifiedMatching +OMIM:612062 ZNRF3 skos:exactMatch hgnc.symbol:ZNRF3 semapv:UnspecifiedMatching OMIM:612062 ZNRF3 skos:exactMatch ncbigene:84133 semapv:UnspecifiedMatching -OMIM:612063 ZNRF4 skos:exactMatch hgnc:ZNRF4 semapv:UnspecifiedMatching +OMIM:612063 ZNRF4 skos:exactMatch hgnc.symbol:17726 semapv:UnspecifiedMatching +OMIM:612063 ZNRF4 skos:exactMatch hgnc.symbol:ZNRF4 semapv:UnspecifiedMatching OMIM:612063 ZNRF4 skos:exactMatch ncbigene:148066 semapv:UnspecifiedMatching -OMIM:612064 GIGYF1 skos:exactMatch hgnc:GIGYF1 semapv:UnspecifiedMatching +OMIM:612064 GIGYF1 skos:exactMatch hgnc.symbol:9126 semapv:UnspecifiedMatching +OMIM:612064 GIGYF1 skos:exactMatch hgnc.symbol:GIGYF1 semapv:UnspecifiedMatching OMIM:612064 GIGYF1 skos:exactMatch ncbigene:64599 semapv:UnspecifiedMatching -OMIM:612065 PARP9 skos:exactMatch hgnc:PARP9 semapv:UnspecifiedMatching +OMIM:612065 PARP9 skos:exactMatch hgnc.symbol:24118 semapv:UnspecifiedMatching +OMIM:612065 PARP9 skos:exactMatch hgnc.symbol:PARP9 semapv:UnspecifiedMatching OMIM:612065 PARP9 skos:exactMatch ncbigene:83666 semapv:UnspecifiedMatching -OMIM:612066 PARP15 skos:exactMatch hgnc:PARP15 semapv:UnspecifiedMatching +OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:26876 semapv:UnspecifiedMatching +OMIM:612066 PARP15 skos:exactMatch hgnc.symbol:PARP15 semapv:UnspecifiedMatching OMIM:612066 PARP15 skos:exactMatch ncbigene:165631 semapv:UnspecifiedMatching -OMIM:612068 PIRT skos:exactMatch hgnc:PIRT semapv:UnspecifiedMatching +OMIM:612068 PIRT skos:exactMatch hgnc.symbol:37239 semapv:UnspecifiedMatching +OMIM:612068 PIRT skos:exactMatch hgnc.symbol:PIRT semapv:UnspecifiedMatching OMIM:612068 PIRT skos:exactMatch ncbigene:644139 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch UMLS:C2677565 semapv:UnspecifiedMatching -OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch orphanet.ordo:275872 semapv:UnspecifiedMatching -OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia skos:exactMatch orphanet.ordo:803 semapv:UnspecifiedMatching -OMIM:612070 MIRN144 skos:exactMatch hgnc:MIR144 semapv:UnspecifiedMatching +OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:31531 semapv:UnspecifiedMatching +OMIM:612070 MIRN144 skos:exactMatch hgnc.symbol:MIR144 semapv:UnspecifiedMatching OMIM:612070 MIRN144 skos:exactMatch ncbigene:406936 semapv:UnspecifiedMatching -OMIM:612071 MIRN451 skos:exactMatch hgnc:MIR451A semapv:UnspecifiedMatching +OMIM:612071 MIRN451 skos:exactMatch hgnc.symbol:32053 semapv:UnspecifiedMatching +OMIM:612071 MIRN451 skos:exactMatch hgnc.symbol:MIR451A semapv:UnspecifiedMatching OMIM:612071 MIRN451 skos:exactMatch ncbigene:574411 semapv:UnspecifiedMatching -OMIM:612072 MIF4GD skos:exactMatch hgnc:MIF4GD semapv:UnspecifiedMatching +OMIM:612072 MIF4GD skos:exactMatch hgnc.symbol:24030 semapv:UnspecifiedMatching +OMIM:612072 MIF4GD skos:exactMatch hgnc.symbol:MIF4GD semapv:UnspecifiedMatching OMIM:612072 MIF4GD skos:exactMatch ncbigene:57409 semapv:UnspecifiedMatching -OMIM:612074 RBM28 skos:exactMatch hgnc:RBM28 semapv:UnspecifiedMatching +OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:21863 semapv:UnspecifiedMatching +OMIM:612074 RBM28 skos:exactMatch hgnc.symbol:RBM28 semapv:UnspecifiedMatching OMIM:612074 RBM28 skos:exactMatch ncbigene:55131 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:254803 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:255235 semapv:UnspecifiedMatching +OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C2749861 semapv:UnspecifiedMatching OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch UMLS:C3150172 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch orphanet.ordo:254803 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch orphanet.ordo:255235 semapv:UnspecifiedMatching -OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) skos:exactMatch orphanet.ordo:298 semapv:UnspecifiedMatching +OMIM:612076 hypouricemia, renal, 2 skos:exactMatch Orphanet:94088 semapv:UnspecifiedMatching OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677549 semapv:UnspecifiedMatching OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677550 semapv:UnspecifiedMatching OMIM:612076 hypouricemia, renal, 2 skos:exactMatch UMLS:C2677551 semapv:UnspecifiedMatching -OMIM:612076 hypouricemia, renal, 2 skos:exactMatch orphanet.ordo:94088 semapv:UnspecifiedMatching -OMIM:612077 MIR22 skos:exactMatch hgnc:MIR22 semapv:UnspecifiedMatching +OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:31599 semapv:UnspecifiedMatching +OMIM:612077 MIR22 skos:exactMatch hgnc.symbol:MIR22 semapv:UnspecifiedMatching OMIM:612077 MIR22 skos:exactMatch ncbigene:407004 semapv:UnspecifiedMatching -OMIM:612078 ZNF469 skos:exactMatch hgnc:ZNF469 semapv:UnspecifiedMatching +OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:23216 semapv:UnspecifiedMatching +OMIM:612078 ZNF469 skos:exactMatch hgnc.symbol:ZNF469 semapv:UnspecifiedMatching OMIM:612078 ZNF469 skos:exactMatch ncbigene:84627 semapv:UnspecifiedMatching -OMIM:612080 UQCRQ skos:exactMatch hgnc:UQCRQ semapv:UnspecifiedMatching +OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:29594 semapv:UnspecifiedMatching +OMIM:612080 UQCRQ skos:exactMatch hgnc.symbol:UQCRQ semapv:UnspecifiedMatching OMIM:612080 UQCRQ skos:exactMatch ncbigene:27089 semapv:UnspecifiedMatching -OMIM:612081 IL34 skos:exactMatch hgnc:IL34 semapv:UnspecifiedMatching +OMIM:612081 IL34 skos:exactMatch hgnc.symbol:28529 semapv:UnspecifiedMatching +OMIM:612081 IL34 skos:exactMatch hgnc.symbol:IL34 semapv:UnspecifiedMatching OMIM:612081 IL34 skos:exactMatch ncbigene:146433 semapv:UnspecifiedMatching -OMIM:612082 CIC skos:exactMatch hgnc:CIC semapv:UnspecifiedMatching +OMIM:612082 CIC skos:exactMatch hgnc.symbol:14214 semapv:UnspecifiedMatching +OMIM:612082 CIC skos:exactMatch hgnc.symbol:CIC semapv:UnspecifiedMatching OMIM:612082 CIC skos:exactMatch ncbigene:23152 semapv:UnspecifiedMatching -OMIM:612084 SLC51A skos:exactMatch hgnc:SLC51A semapv:UnspecifiedMatching +OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:29955 semapv:UnspecifiedMatching +OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:SLC51A semapv:UnspecifiedMatching OMIM:612084 SLC51A skos:exactMatch ncbigene:200931 semapv:UnspecifiedMatching -OMIM:612085 SLC51B skos:exactMatch hgnc:SLC51B semapv:UnspecifiedMatching +OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:29956 semapv:UnspecifiedMatching +OMIM:612085 SLC51B skos:exactMatch hgnc.symbol:SLC51B semapv:UnspecifiedMatching OMIM:612085 SLC51B skos:exactMatch ncbigene:123264 semapv:UnspecifiedMatching -OMIM:612086 HMSD skos:exactMatch hgnc:HMSD semapv:UnspecifiedMatching +OMIM:612086 HMSD skos:exactMatch hgnc.symbol:23037 semapv:UnspecifiedMatching +OMIM:612086 HMSD skos:exactMatch hgnc.symbol:HMSD semapv:UnspecifiedMatching OMIM:612086 HMSD skos:exactMatch ncbigene:284293 semapv:UnspecifiedMatching OMIM:612087 CLEC2A skos:exactMatch UMLS:C1539087 semapv:UnspecifiedMatching -OMIM:612087 CLEC2A skos:exactMatch hgnc:CLEC2A semapv:UnspecifiedMatching +OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:24191 semapv:UnspecifiedMatching +OMIM:612087 CLEC2A skos:exactMatch hgnc.symbol:CLEC2A semapv:UnspecifiedMatching OMIM:612087 CLEC2A skos:exactMatch ncbigene:387836 semapv:UnspecifiedMatching -OMIM:612088 CLEC12A skos:exactMatch hgnc:CLEC12A semapv:UnspecifiedMatching +OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:31713 semapv:UnspecifiedMatching +OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:CLEC12A semapv:UnspecifiedMatching OMIM:612088 CLEC12A skos:exactMatch ncbigene:160364 semapv:UnspecifiedMatching -OMIM:612090 MIR200A skos:exactMatch hgnc:MIR200A semapv:UnspecifiedMatching +OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:31578 semapv:UnspecifiedMatching +OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:MIR200A semapv:UnspecifiedMatching OMIM:612090 MIR200A skos:exactMatch ncbigene:406983 semapv:UnspecifiedMatching -OMIM:612091 MIRN200B skos:exactMatch hgnc:MIR200B semapv:UnspecifiedMatching +OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:31579 semapv:UnspecifiedMatching +OMIM:612091 MIRN200B skos:exactMatch hgnc.symbol:MIR200B semapv:UnspecifiedMatching OMIM:612091 MIRN200B skos:exactMatch ncbigene:406984 semapv:UnspecifiedMatching -OMIM:612092 MIR200C skos:exactMatch hgnc:MIR200C semapv:UnspecifiedMatching +OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:31580 semapv:UnspecifiedMatching +OMIM:612092 MIR200C skos:exactMatch hgnc.symbol:MIR200C semapv:UnspecifiedMatching OMIM:612092 MIR200C skos:exactMatch ncbigene:406985 semapv:UnspecifiedMatching -OMIM:612093 MIR141 skos:exactMatch hgnc:MIR141 semapv:UnspecifiedMatching +OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:31528 semapv:UnspecifiedMatching +OMIM:612093 MIR141 skos:exactMatch hgnc.symbol:MIR141 semapv:UnspecifiedMatching OMIM:612093 MIR141 skos:exactMatch ncbigene:406933 semapv:UnspecifiedMatching -OMIM:612094 MIRN429 skos:exactMatch hgnc:MIR429 semapv:UnspecifiedMatching +OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:13784 semapv:UnspecifiedMatching +OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:MIR429 semapv:UnspecifiedMatching OMIM:612094 MIRN429 skos:exactMatch ncbigene:554210 semapv:UnspecifiedMatching -OMIM:612101 PI4K2B skos:exactMatch hgnc:PI4K2B semapv:UnspecifiedMatching +OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:18215 semapv:UnspecifiedMatching +OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:PI4K2B semapv:UnspecifiedMatching OMIM:612101 PI4K2B skos:exactMatch ncbigene:55300 semapv:UnspecifiedMatching -OMIM:612102 MIRNLET7G skos:exactMatch hgnc:MIRLET7G semapv:UnspecifiedMatching +OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:31485 semapv:UnspecifiedMatching +OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:MIRLET7G semapv:UnspecifiedMatching OMIM:612102 MIRNLET7G skos:exactMatch ncbigene:406890 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch hgnc:NABP1 semapv:UnspecifiedMatching +OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:26232 semapv:UnspecifiedMatching +OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:NABP1 semapv:UnspecifiedMatching OMIM:612103 OBFC2A skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch hgnc:NABP2 semapv:UnspecifiedMatching +OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:28412 semapv:UnspecifiedMatching +OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:NABP2 semapv:UnspecifiedMatching OMIM:612104 OBFC2B skos:exactMatch ncbigene:79035 semapv:UnspecifiedMatching -OMIM:612105 KLLN skos:exactMatch hgnc:KLLN semapv:UnspecifiedMatching +OMIM:612105 KLLN skos:exactMatch hgnc.symbol:37212 semapv:UnspecifiedMatching +OMIM:612105 KLLN skos:exactMatch hgnc.symbol:KLLN semapv:UnspecifiedMatching OMIM:612105 KLLN skos:exactMatch ncbigene:100144748 semapv:UnspecifiedMatching -OMIM:612106 ZBTB40 skos:exactMatch hgnc:ZBTB40 semapv:UnspecifiedMatching +OMIM:612106 ZBTB40 skos:exactMatch hgnc.symbol:29045 semapv:UnspecifiedMatching +OMIM:612106 ZBTB40 skos:exactMatch hgnc.symbol:ZBTB40 semapv:UnspecifiedMatching OMIM:612106 ZBTB40 skos:exactMatch ncbigene:9923 semapv:UnspecifiedMatching -OMIM:612107 SLC17A9 skos:exactMatch hgnc:SLC17A9 semapv:UnspecifiedMatching +OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:16192 semapv:UnspecifiedMatching +OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:SLC17A9 semapv:UnspecifiedMatching OMIM:612107 SLC17A9 skos:exactMatch ncbigene:63910 semapv:UnspecifiedMatching -OMIM:612111 TNFAIP8 skos:exactMatch hgnc:TNFAIP8 semapv:UnspecifiedMatching +OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:17260 semapv:UnspecifiedMatching +OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:TNFAIP8 semapv:UnspecifiedMatching OMIM:612111 TNFAIP8 skos:exactMatch ncbigene:25816 semapv:UnspecifiedMatching -OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc:TNFAIP8L2 semapv:UnspecifiedMatching +OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:26277 semapv:UnspecifiedMatching +OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:TNFAIP8L2 semapv:UnspecifiedMatching OMIM:612112 TNFAIP8L2 skos:exactMatch ncbigene:79626 semapv:UnspecifiedMatching -OMIM:612115 ARHGEF3 skos:exactMatch hgnc:ARHGEF3 semapv:UnspecifiedMatching +OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:683 semapv:UnspecifiedMatching +OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:ARHGEF3 semapv:UnspecifiedMatching OMIM:612115 ARHGEF3 skos:exactMatch ncbigene:50650 semapv:UnspecifiedMatching OMIM:612116 USP22 skos:exactMatch UMLS:C1421400 semapv:UnspecifiedMatching -OMIM:612116 USP22 skos:exactMatch hgnc:USP22 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch hgnc.symbol:12621 semapv:UnspecifiedMatching +OMIM:612116 USP22 skos:exactMatch hgnc.symbol:USP22 semapv:UnspecifiedMatching OMIM:612116 USP22 skos:exactMatch ncbigene:23326 semapv:UnspecifiedMatching -OMIM:612117 MIR143 skos:exactMatch hgnc:MIR143 semapv:UnspecifiedMatching +OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:31530 semapv:UnspecifiedMatching +OMIM:612117 MIR143 skos:exactMatch hgnc.symbol:MIR143 semapv:UnspecifiedMatching OMIM:612117 MIR143 skos:exactMatch ncbigene:406935 semapv:UnspecifiedMatching -OMIM:612118 IQSEC3 skos:exactMatch hgnc:IQSEC3 semapv:UnspecifiedMatching +OMIM:612118 IQSEC3 skos:exactMatch hgnc.symbol:29193 semapv:UnspecifiedMatching +OMIM:612118 IQSEC3 skos:exactMatch hgnc.symbol:IQSEC3 semapv:UnspecifiedMatching OMIM:612118 IQSEC3 skos:exactMatch ncbigene:440073 semapv:UnspecifiedMatching -OMIM:612120 CIDEC skos:exactMatch hgnc:CIDEC semapv:UnspecifiedMatching +OMIM:612120 CIDEC skos:exactMatch hgnc.symbol:24229 semapv:UnspecifiedMatching +OMIM:612120 CIDEC skos:exactMatch hgnc.symbol:CIDEC semapv:UnspecifiedMatching OMIM:612120 CIDEC skos:exactMatch ncbigene:63924 semapv:UnspecifiedMatching -OMIM:612121 PNPLA1 skos:exactMatch hgnc:PNPLA1 semapv:UnspecifiedMatching +OMIM:612121 PNPLA1 skos:exactMatch hgnc.symbol:21246 semapv:UnspecifiedMatching +OMIM:612121 PNPLA1 skos:exactMatch hgnc.symbol:PNPLA1 semapv:UnspecifiedMatching OMIM:612121 PNPLA1 skos:exactMatch ncbigene:285848 semapv:UnspecifiedMatching -OMIM:612122 PNPLA7 skos:exactMatch hgnc:PNPLA7 semapv:UnspecifiedMatching +OMIM:612122 PNPLA7 skos:exactMatch hgnc.symbol:24768 semapv:UnspecifiedMatching +OMIM:612122 PNPLA7 skos:exactMatch hgnc.symbol:PNPLA7 semapv:UnspecifiedMatching OMIM:612122 PNPLA7 skos:exactMatch ncbigene:375775 semapv:UnspecifiedMatching -OMIM:612123 PNPLA8 skos:exactMatch hgnc:PNPLA8 semapv:UnspecifiedMatching +OMIM:612123 PNPLA8 skos:exactMatch hgnc.symbol:28900 semapv:UnspecifiedMatching +OMIM:612123 PNPLA8 skos:exactMatch hgnc.symbol:PNPLA8 semapv:UnspecifiedMatching OMIM:612123 PNPLA8 skos:exactMatch ncbigene:50640 semapv:UnspecifiedMatching -OMIM:612125 SERTAD3 skos:exactMatch hgnc:SERTAD3 semapv:UnspecifiedMatching +OMIM:612125 SERTAD3 skos:exactMatch hgnc.symbol:17931 semapv:UnspecifiedMatching +OMIM:612125 SERTAD3 skos:exactMatch hgnc.symbol:SERTAD3 semapv:UnspecifiedMatching OMIM:612125 SERTAD3 skos:exactMatch ncbigene:29946 semapv:UnspecifiedMatching -OMIM:612127 HSD17B13 skos:exactMatch hgnc:HSD17B13 semapv:UnspecifiedMatching +OMIM:612127 HSD17B13 skos:exactMatch hgnc.symbol:18685 semapv:UnspecifiedMatching +OMIM:612127 HSD17B13 skos:exactMatch hgnc.symbol:HSD17B13 semapv:UnspecifiedMatching OMIM:612127 HSD17B13 skos:exactMatch ncbigene:345275 semapv:UnspecifiedMatching -OMIM:612128 RASL10B skos:exactMatch hgnc:RASL10B semapv:UnspecifiedMatching +OMIM:612128 RASL10B skos:exactMatch hgnc.symbol:30295 semapv:UnspecifiedMatching +OMIM:612128 RASL10B skos:exactMatch hgnc.symbol:RASL10B semapv:UnspecifiedMatching OMIM:612128 RASL10B skos:exactMatch ncbigene:91608 semapv:UnspecifiedMatching -OMIM:612129 IDO2 skos:exactMatch hgnc:IDO2 semapv:UnspecifiedMatching +OMIM:612129 IDO2 skos:exactMatch hgnc.symbol:27269 semapv:UnspecifiedMatching +OMIM:612129 IDO2 skos:exactMatch hgnc.symbol:IDO2 semapv:UnspecifiedMatching OMIM:612129 IDO2 skos:exactMatch ncbigene:169355 semapv:UnspecifiedMatching OMIM:612130 GAEC1 skos:exactMatch ncbigene:100126794 semapv:UnspecifiedMatching -OMIM:612131 DHRS9 skos:exactMatch hgnc:DHRS9 semapv:UnspecifiedMatching +OMIM:612131 DHRS9 skos:exactMatch hgnc.symbol:16888 semapv:UnspecifiedMatching +OMIM:612131 DHRS9 skos:exactMatch hgnc.symbol:DHRS9 semapv:UnspecifiedMatching OMIM:612131 DHRS9 skos:exactMatch ncbigene:10170 semapv:UnspecifiedMatching +OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch Orphanet:238468 semapv:UnspecifiedMatching +OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch Orphanet:98813 semapv:UnspecifiedMatching OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch UMLS:C2677481 semapv:UnspecifiedMatching -OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch orphanet.ordo:238468 semapv:UnspecifiedMatching -OMIM:612132 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch orphanet.ordo:98813 semapv:UnspecifiedMatching -OMIM:612133 NFE4 skos:exactMatch hgnc:NFE4 semapv:UnspecifiedMatching +OMIM:612133 NFE4 skos:exactMatch hgnc.symbol:29902 semapv:UnspecifiedMatching +OMIM:612133 NFE4 skos:exactMatch hgnc.symbol:NFE4 semapv:UnspecifiedMatching OMIM:612133 NFE4 skos:exactMatch ncbigene:58160 semapv:UnspecifiedMatching -OMIM:612134 GLCE skos:exactMatch hgnc:GLCE semapv:UnspecifiedMatching +OMIM:612134 GLCE skos:exactMatch hgnc.symbol:17855 semapv:UnspecifiedMatching +OMIM:612134 GLCE skos:exactMatch hgnc.symbol:GLCE semapv:UnspecifiedMatching OMIM:612134 GLCE skos:exactMatch ncbigene:26035 semapv:UnspecifiedMatching -OMIM:612135 CABYR skos:exactMatch hgnc:CABYR semapv:UnspecifiedMatching +OMIM:612135 CABYR skos:exactMatch hgnc.symbol:15569 semapv:UnspecifiedMatching +OMIM:612135 CABYR skos:exactMatch hgnc.symbol:CABYR semapv:UnspecifiedMatching OMIM:612135 CABYR skos:exactMatch ncbigene:26256 semapv:UnspecifiedMatching -OMIM:612136 ECHDC1 skos:exactMatch hgnc:ECHDC1 semapv:UnspecifiedMatching +OMIM:612136 ECHDC1 skos:exactMatch hgnc.symbol:21489 semapv:UnspecifiedMatching +OMIM:612136 ECHDC1 skos:exactMatch hgnc.symbol:ECHDC1 semapv:UnspecifiedMatching OMIM:612136 ECHDC1 skos:exactMatch ncbigene:55862 semapv:UnspecifiedMatching -OMIM:612137 RNF146 skos:exactMatch hgnc:RNF146 semapv:UnspecifiedMatching +OMIM:612137 RNF146 skos:exactMatch hgnc.symbol:21336 semapv:UnspecifiedMatching +OMIM:612137 RNF146 skos:exactMatch hgnc.symbol:RNF146 semapv:UnspecifiedMatching OMIM:612137 RNF146 skos:exactMatch ncbigene:81847 semapv:UnspecifiedMatching -OMIM:612139 PREX2 skos:exactMatch hgnc:PREX2 semapv:UnspecifiedMatching +OMIM:612139 PREX2 skos:exactMatch hgnc.symbol:22950 semapv:UnspecifiedMatching +OMIM:612139 PREX2 skos:exactMatch hgnc.symbol:PREX2 semapv:UnspecifiedMatching OMIM:612139 PREX2 skos:exactMatch ncbigene:80243 semapv:UnspecifiedMatching -OMIM:612140 SEPT14 skos:exactMatch hgnc:SEPTIN14 semapv:UnspecifiedMatching +OMIM:612140 SEPT14 skos:exactMatch hgnc.symbol:33280 semapv:UnspecifiedMatching +OMIM:612140 SEPT14 skos:exactMatch hgnc.symbol:SEPTIN14 semapv:UnspecifiedMatching OMIM:612140 SEPT14 skos:exactMatch ncbigene:346288 semapv:UnspecifiedMatching -OMIM:612141 EPB41L4A skos:exactMatch hgnc:EPB41L4A semapv:UnspecifiedMatching +OMIM:612141 EPB41L4A skos:exactMatch hgnc.symbol:13278 semapv:UnspecifiedMatching +OMIM:612141 EPB41L4A skos:exactMatch hgnc.symbol:EPB41L4A semapv:UnspecifiedMatching OMIM:612141 EPB41L4A skos:exactMatch ncbigene:64097 semapv:UnspecifiedMatching -OMIM:612142 MIRLET7A2 skos:exactMatch hgnc:MIRLET7A2 semapv:UnspecifiedMatching +OMIM:612142 MIRLET7A2 skos:exactMatch hgnc.symbol:31477 semapv:UnspecifiedMatching +OMIM:612142 MIRLET7A2 skos:exactMatch hgnc.symbol:MIRLET7A2 semapv:UnspecifiedMatching OMIM:612142 MIRLET7A2 skos:exactMatch ncbigene:406882 semapv:UnspecifiedMatching -OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc:MIRLET7A3 semapv:UnspecifiedMatching +OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc.symbol:31478 semapv:UnspecifiedMatching +OMIM:612143 MIRNLET7A3 skos:exactMatch hgnc.symbol:MIRLET7A3 semapv:UnspecifiedMatching OMIM:612143 MIRNLET7A3 skos:exactMatch ncbigene:406883 semapv:UnspecifiedMatching -OMIM:612144 MIRLET7C skos:exactMatch hgnc:MIRLET7C semapv:UnspecifiedMatching +OMIM:612144 MIRLET7C skos:exactMatch hgnc.symbol:31480 semapv:UnspecifiedMatching +OMIM:612144 MIRLET7C skos:exactMatch hgnc.symbol:MIRLET7C semapv:UnspecifiedMatching OMIM:612144 MIRLET7C skos:exactMatch ncbigene:406885 semapv:UnspecifiedMatching -OMIM:612145 MIRNLET7D skos:exactMatch hgnc:MIRLET7D semapv:UnspecifiedMatching +OMIM:612145 MIRNLET7D skos:exactMatch hgnc.symbol:31481 semapv:UnspecifiedMatching +OMIM:612145 MIRNLET7D skos:exactMatch hgnc.symbol:MIRLET7D semapv:UnspecifiedMatching OMIM:612145 MIRNLET7D skos:exactMatch ncbigene:406886 semapv:UnspecifiedMatching -OMIM:612146 MIRLET7F1 skos:exactMatch hgnc:MIRLET7F1 semapv:UnspecifiedMatching +OMIM:612146 MIRLET7F1 skos:exactMatch hgnc.symbol:31483 semapv:UnspecifiedMatching +OMIM:612146 MIRLET7F1 skos:exactMatch hgnc.symbol:MIRLET7F1 semapv:UnspecifiedMatching OMIM:612146 MIRLET7F1 skos:exactMatch ncbigene:406888 semapv:UnspecifiedMatching -OMIM:612147 MYLK3 skos:exactMatch hgnc:MYLK3 semapv:UnspecifiedMatching +OMIM:612147 MYLK3 skos:exactMatch hgnc.symbol:29826 semapv:UnspecifiedMatching +OMIM:612147 MYLK3 skos:exactMatch hgnc.symbol:MYLK3 semapv:UnspecifiedMatching OMIM:612147 MYLK3 skos:exactMatch ncbigene:91807 semapv:UnspecifiedMatching -OMIM:612148 MIRNLET7I skos:exactMatch hgnc:MIRLET7I semapv:UnspecifiedMatching +OMIM:612148 MIRNLET7I skos:exactMatch hgnc.symbol:31486 semapv:UnspecifiedMatching +OMIM:612148 MIRNLET7I skos:exactMatch hgnc.symbol:MIRLET7I semapv:UnspecifiedMatching OMIM:612148 MIRNLET7I skos:exactMatch ncbigene:406891 semapv:UnspecifiedMatching -OMIM:612149 RBFOX2 skos:exactMatch hgnc:RBFOX2 semapv:UnspecifiedMatching +OMIM:612149 RBFOX2 skos:exactMatch hgnc.symbol:9906 semapv:UnspecifiedMatching +OMIM:612149 RBFOX2 skos:exactMatch hgnc.symbol:RBFOX2 semapv:UnspecifiedMatching OMIM:612149 RBFOX2 skos:exactMatch ncbigene:23543 semapv:UnspecifiedMatching -OMIM:612150 MIR25 skos:exactMatch hgnc:MIR25 semapv:UnspecifiedMatching +OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:31609 semapv:UnspecifiedMatching +OMIM:612150 MIR25 skos:exactMatch hgnc.symbol:MIR25 semapv:UnspecifiedMatching OMIM:612150 MIR25 skos:exactMatch ncbigene:407014 semapv:UnspecifiedMatching -OMIM:612151 MIR26A1 skos:exactMatch hgnc:MIR26A1 semapv:UnspecifiedMatching +OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:31610 semapv:UnspecifiedMatching +OMIM:612151 MIR26A1 skos:exactMatch hgnc.symbol:MIR26A1 semapv:UnspecifiedMatching OMIM:612151 MIR26A1 skos:exactMatch ncbigene:407015 semapv:UnspecifiedMatching -OMIM:612152 MIR26B skos:exactMatch hgnc:MIR26B semapv:UnspecifiedMatching +OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:31612 semapv:UnspecifiedMatching +OMIM:612152 MIR26B skos:exactMatch hgnc.symbol:MIR26B semapv:UnspecifiedMatching OMIM:612152 MIR26B skos:exactMatch ncbigene:407017 semapv:UnspecifiedMatching -OMIM:612153 MIR27A skos:exactMatch hgnc:MIR27A semapv:UnspecifiedMatching +OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:31613 semapv:UnspecifiedMatching +OMIM:612153 MIR27A skos:exactMatch hgnc.symbol:MIR27A semapv:UnspecifiedMatching OMIM:612153 MIR27A skos:exactMatch ncbigene:407018 semapv:UnspecifiedMatching -OMIM:612154 MIR28 skos:exactMatch hgnc:MIR28 semapv:UnspecifiedMatching +OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:31615 semapv:UnspecifiedMatching +OMIM:612154 MIR28 skos:exactMatch hgnc.symbol:MIR28 semapv:UnspecifiedMatching OMIM:612154 MIR28 skos:exactMatch ncbigene:407020 semapv:UnspecifiedMatching -OMIM:612155 MIR31 skos:exactMatch hgnc:MIR31 semapv:UnspecifiedMatching +OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:31630 semapv:UnspecifiedMatching +OMIM:612155 MIR31 skos:exactMatch hgnc.symbol:MIR31 semapv:UnspecifiedMatching OMIM:612155 MIR31 skos:exactMatch ncbigene:407035 semapv:UnspecifiedMatching -OMIM:612156 MIR33A skos:exactMatch hgnc:MIR33A semapv:UnspecifiedMatching +OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:31634 semapv:UnspecifiedMatching +OMIM:612156 MIR33A skos:exactMatch hgnc.symbol:MIR33A semapv:UnspecifiedMatching OMIM:612156 MIR33A skos:exactMatch ncbigene:407039 semapv:UnspecifiedMatching -OMIM:612157 SENP1 skos:exactMatch hgnc:SENP1 semapv:UnspecifiedMatching +OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:17927 semapv:UnspecifiedMatching +OMIM:612157 SENP1 skos:exactMatch hgnc.symbol:SENP1 semapv:UnspecifiedMatching OMIM:612157 SENP1 skos:exactMatch ncbigene:29843 semapv:UnspecifiedMatching -OMIM:612159 RPH3A skos:exactMatch hgnc:RPH3A semapv:UnspecifiedMatching +OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:17056 semapv:UnspecifiedMatching +OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:RPH3A semapv:UnspecifiedMatching OMIM:612159 RPH3A skos:exactMatch ncbigene:22895 semapv:UnspecifiedMatching -OMIM:612163 TPCN2 skos:exactMatch hgnc:TPCN2 semapv:UnspecifiedMatching +OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:20820 semapv:UnspecifiedMatching +OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:TPCN2 semapv:UnspecifiedMatching OMIM:612163 TPCN2 skos:exactMatch ncbigene:219931 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching -OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch orphanet.ordo:33069 semapv:UnspecifiedMatching -OMIM:612166 SLC39A2 skos:exactMatch hgnc:SLC39A2 semapv:UnspecifiedMatching +OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:17127 semapv:UnspecifiedMatching +OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:SLC39A2 semapv:UnspecifiedMatching OMIM:612166 SLC39A2 skos:exactMatch ncbigene:29986 semapv:UnspecifiedMatching -OMIM:612167 WDR48 skos:exactMatch hgnc:WDR48 semapv:UnspecifiedMatching +OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:30914 semapv:UnspecifiedMatching +OMIM:612167 WDR48 skos:exactMatch hgnc.symbol:WDR48 semapv:UnspecifiedMatching OMIM:612167 WDR48 skos:exactMatch ncbigene:57599 semapv:UnspecifiedMatching -OMIM:612168 SLC39A3 skos:exactMatch hgnc:SLC39A3 semapv:UnspecifiedMatching +OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:17128 semapv:UnspecifiedMatching +OMIM:612168 SLC39A3 skos:exactMatch hgnc.symbol:SLC39A3 semapv:UnspecifiedMatching OMIM:612168 SLC39A3 skos:exactMatch ncbigene:29985 semapv:UnspecifiedMatching OMIM:612169 FCGR2C skos:exactMatch UMLS:C1521989 semapv:UnspecifiedMatching -OMIM:612169 FCGR2C skos:exactMatch hgnc:FCGR2C semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:15626 semapv:UnspecifiedMatching +OMIM:612169 FCGR2C skos:exactMatch hgnc.symbol:FCGR2C semapv:UnspecifiedMatching OMIM:612169 FCGR2C skos:exactMatch ncbigene:9103 semapv:UnspecifiedMatching -OMIM:612170 MUC19 skos:exactMatch hgnc:MUC19 semapv:UnspecifiedMatching +OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:14362 semapv:UnspecifiedMatching +OMIM:612170 MUC19 skos:exactMatch hgnc.symbol:MUC19 semapv:UnspecifiedMatching OMIM:612170 MUC19 skos:exactMatch ncbigene:283463 semapv:UnspecifiedMatching -OMIM:612171 RPRM skos:exactMatch hgnc:RPRM semapv:UnspecifiedMatching +OMIM:612171 RPRM skos:exactMatch hgnc.symbol:24201 semapv:UnspecifiedMatching +OMIM:612171 RPRM skos:exactMatch hgnc.symbol:RPRM semapv:UnspecifiedMatching OMIM:612171 RPRM skos:exactMatch ncbigene:56475 semapv:UnspecifiedMatching OMIM:612172 DDX23 skos:exactMatch UMLS:C1424920 semapv:UnspecifiedMatching -OMIM:612172 DDX23 skos:exactMatch hgnc:DDX23 semapv:UnspecifiedMatching +OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:17347 semapv:UnspecifiedMatching +OMIM:612172 DDX23 skos:exactMatch hgnc.symbol:DDX23 semapv:UnspecifiedMatching OMIM:612172 DDX23 skos:exactMatch ncbigene:9416 semapv:UnspecifiedMatching OMIM:612173 SPAG16 skos:exactMatch UMLS:C1539808 semapv:UnspecifiedMatching -OMIM:612173 SPAG16 skos:exactMatch hgnc:SPAG16 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:23225 semapv:UnspecifiedMatching +OMIM:612173 SPAG16 skos:exactMatch hgnc.symbol:SPAG16 semapv:UnspecifiedMatching OMIM:612173 SPAG16 skos:exactMatch ncbigene:79582 semapv:UnspecifiedMatching -OMIM:612174 CAB39 skos:exactMatch hgnc:CAB39 semapv:UnspecifiedMatching +OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:20292 semapv:UnspecifiedMatching +OMIM:612174 CAB39 skos:exactMatch hgnc.symbol:CAB39 semapv:UnspecifiedMatching OMIM:612174 CAB39 skos:exactMatch ncbigene:51719 semapv:UnspecifiedMatching -OMIM:612175 CAB39L skos:exactMatch hgnc:CAB39L semapv:UnspecifiedMatching +OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:20290 semapv:UnspecifiedMatching +OMIM:612175 CAB39L skos:exactMatch hgnc.symbol:CAB39L semapv:UnspecifiedMatching OMIM:612175 CAB39L skos:exactMatch ncbigene:81617 semapv:UnspecifiedMatching -OMIM:612176 MYSM1 skos:exactMatch hgnc:MYSM1 semapv:UnspecifiedMatching +OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:29401 semapv:UnspecifiedMatching +OMIM:612176 MYSM1 skos:exactMatch hgnc.symbol:MYSM1 semapv:UnspecifiedMatching OMIM:612176 MYSM1 skos:exactMatch ncbigene:114803 semapv:UnspecifiedMatching -OMIM:612177 RN7SL1 skos:exactMatch hgnc:RN7SL1 semapv:UnspecifiedMatching +OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:10038 semapv:UnspecifiedMatching +OMIM:612177 RN7SL1 skos:exactMatch hgnc.symbol:RN7SL1 semapv:UnspecifiedMatching OMIM:612177 RN7SL1 skos:exactMatch ncbigene:6029 semapv:UnspecifiedMatching OMIM:612178 HENMT1 skos:exactMatch UMLS:C1823206 semapv:UnspecifiedMatching -OMIM:612178 HENMT1 skos:exactMatch hgnc:HENMT1 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:26400 semapv:UnspecifiedMatching +OMIM:612178 HENMT1 skos:exactMatch hgnc.symbol:HENMT1 semapv:UnspecifiedMatching OMIM:612178 HENMT1 skos:exactMatch ncbigene:113802 semapv:UnspecifiedMatching -OMIM:612179 RN7SL2 skos:exactMatch hgnc:RN7SL2 semapv:UnspecifiedMatching +OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:23134 semapv:UnspecifiedMatching +OMIM:612179 RN7SL2 skos:exactMatch hgnc.symbol:RN7SL2 semapv:UnspecifiedMatching OMIM:612179 RN7SL2 skos:exactMatch ncbigene:378706 semapv:UnspecifiedMatching -OMIM:612180 RN7SL3 skos:exactMatch hgnc:RN7SL3 semapv:UnspecifiedMatching +OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:23135 semapv:UnspecifiedMatching +OMIM:612180 RN7SL3 skos:exactMatch hgnc.symbol:RN7SL3 semapv:UnspecifiedMatching OMIM:612180 RN7SL3 skos:exactMatch ncbigene:378707 semapv:UnspecifiedMatching -OMIM:612181 MUC13 skos:exactMatch hgnc:MUC13 semapv:UnspecifiedMatching +OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:7511 semapv:UnspecifiedMatching +OMIM:612181 MUC13 skos:exactMatch hgnc.symbol:MUC13 semapv:UnspecifiedMatching OMIM:612181 MUC13 skos:exactMatch ncbigene:56667 semapv:UnspecifiedMatching -OMIM:612182 NAT2 skos:exactMatch hgnc:NAT2 semapv:UnspecifiedMatching +OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:7646 semapv:UnspecifiedMatching +OMIM:612182 NAT2 skos:exactMatch hgnc.symbol:NAT2 semapv:UnspecifiedMatching OMIM:612182 NAT2 skos:exactMatch ncbigene:10 semapv:UnspecifiedMatching -OMIM:612183 GPR176 skos:exactMatch hgnc:GPR176 semapv:UnspecifiedMatching +OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:32370 semapv:UnspecifiedMatching +OMIM:612183 GPR176 skos:exactMatch hgnc.symbol:GPR176 semapv:UnspecifiedMatching OMIM:612183 GPR176 skos:exactMatch ncbigene:11245 semapv:UnspecifiedMatching -OMIM:612184 CASKIN1 skos:exactMatch hgnc:CASKIN1 semapv:UnspecifiedMatching +OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:20879 semapv:UnspecifiedMatching +OMIM:612184 CASKIN1 skos:exactMatch hgnc.symbol:CASKIN1 semapv:UnspecifiedMatching OMIM:612184 CASKIN1 skos:exactMatch ncbigene:57524 semapv:UnspecifiedMatching -OMIM:612185 CASKIN2 skos:exactMatch hgnc:CASKIN2 semapv:UnspecifiedMatching +OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:18200 semapv:UnspecifiedMatching +OMIM:612185 CASKIN2 skos:exactMatch hgnc.symbol:CASKIN2 semapv:UnspecifiedMatching OMIM:612185 CASKIN2 skos:exactMatch ncbigene:57513 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch UMLS:C1414090 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch UMLS:C4015261 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch UMLS:C4539881 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching -OMIM:612186 DMXL2 skos:exactMatch hgnc:DMXL2 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:2938 semapv:UnspecifiedMatching +OMIM:612186 DMXL2 skos:exactMatch hgnc.symbol:DMXL2 semapv:UnspecifiedMatching OMIM:612186 DMXL2 skos:exactMatch ncbigene:23312 semapv:UnspecifiedMatching -OMIM:612187 SLC48A1 skos:exactMatch hgnc:SLC48A1 semapv:UnspecifiedMatching +OMIM:612187 SLC48A1 skos:exactMatch hgnc.symbol:26035 semapv:UnspecifiedMatching +OMIM:612187 SLC48A1 skos:exactMatch hgnc.symbol:SLC48A1 semapv:UnspecifiedMatching OMIM:612187 SLC48A1 skos:exactMatch ncbigene:55652 semapv:UnspecifiedMatching -OMIM:612188 VPS39 skos:exactMatch hgnc:VPS39 semapv:UnspecifiedMatching +OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:20593 semapv:UnspecifiedMatching +OMIM:612188 VPS39 skos:exactMatch hgnc.symbol:VPS39 semapv:UnspecifiedMatching OMIM:612188 VPS39 skos:exactMatch ncbigene:23339 semapv:UnspecifiedMatching -OMIM:612189 PBLD skos:exactMatch hgnc:PBLD semapv:UnspecifiedMatching +OMIM:612189 PBLD skos:exactMatch hgnc.symbol:23301 semapv:UnspecifiedMatching +OMIM:612189 PBLD skos:exactMatch hgnc.symbol:PBLD semapv:UnspecifiedMatching OMIM:612189 PBLD skos:exactMatch ncbigene:64081 semapv:UnspecifiedMatching -OMIM:612190 MLST8 skos:exactMatch hgnc:MLST8 semapv:UnspecifiedMatching +OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:24825 semapv:UnspecifiedMatching +OMIM:612190 MLST8 skos:exactMatch hgnc.symbol:MLST8 semapv:UnspecifiedMatching OMIM:612190 MLST8 skos:exactMatch ncbigene:64223 semapv:UnspecifiedMatching -OMIM:612191 MSMP skos:exactMatch hgnc:MSMP semapv:UnspecifiedMatching +OMIM:612191 MSMP skos:exactMatch hgnc.symbol:29663 semapv:UnspecifiedMatching +OMIM:612191 MSMP skos:exactMatch hgnc.symbol:MSMP semapv:UnspecifiedMatching OMIM:612191 MSMP skos:exactMatch ncbigene:692094 semapv:UnspecifiedMatching -OMIM:612192 ZFP57 skos:exactMatch hgnc:ZFP57 semapv:UnspecifiedMatching +OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:18791 semapv:UnspecifiedMatching +OMIM:612192 ZFP57 skos:exactMatch hgnc.symbol:ZFP57 semapv:UnspecifiedMatching OMIM:612192 ZFP57 skos:exactMatch ncbigene:346171 semapv:UnspecifiedMatching -OMIM:612193 CMYA5 skos:exactMatch hgnc:CMYA5 semapv:UnspecifiedMatching +OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:14305 semapv:UnspecifiedMatching +OMIM:612193 CMYA5 skos:exactMatch hgnc.symbol:CMYA5 semapv:UnspecifiedMatching OMIM:612193 CMYA5 skos:exactMatch ncbigene:202333 semapv:UnspecifiedMatching -OMIM:612194 RRAGA skos:exactMatch hgnc:RRAGA semapv:UnspecifiedMatching +OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:16963 semapv:UnspecifiedMatching +OMIM:612194 RRAGA skos:exactMatch hgnc.symbol:RRAGA semapv:UnspecifiedMatching OMIM:612194 RRAGA skos:exactMatch ncbigene:10670 semapv:UnspecifiedMatching OMIM:612195 ABHD1 skos:exactMatch UMLS:C1424994 semapv:UnspecifiedMatching -OMIM:612195 ABHD1 skos:exactMatch hgnc:ABHD1 semapv:UnspecifiedMatching +OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:17553 semapv:UnspecifiedMatching +OMIM:612195 ABHD1 skos:exactMatch hgnc.symbol:ABHD1 semapv:UnspecifiedMatching OMIM:612195 ABHD1 skos:exactMatch ncbigene:84696 semapv:UnspecifiedMatching OMIM:612196 ABHD2 skos:exactMatch UMLS:C1425733 semapv:UnspecifiedMatching -OMIM:612196 ABHD2 skos:exactMatch hgnc:ABHD2 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:18717 semapv:UnspecifiedMatching +OMIM:612196 ABHD2 skos:exactMatch hgnc.symbol:ABHD2 semapv:UnspecifiedMatching OMIM:612196 ABHD2 skos:exactMatch ncbigene:11057 semapv:UnspecifiedMatching OMIM:612197 ABHD3 skos:exactMatch UMLS:C1425734 semapv:UnspecifiedMatching -OMIM:612197 ABHD3 skos:exactMatch hgnc:ABHD3 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:18718 semapv:UnspecifiedMatching +OMIM:612197 ABHD3 skos:exactMatch hgnc.symbol:ABHD3 semapv:UnspecifiedMatching OMIM:612197 ABHD3 skos:exactMatch ncbigene:171586 semapv:UnspecifiedMatching -OMIM:612200 DIPK2A skos:exactMatch hgnc:DIPK2A semapv:UnspecifiedMatching +OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:28490 semapv:UnspecifiedMatching +OMIM:612200 DIPK2A skos:exactMatch hgnc.symbol:DIPK2A semapv:UnspecifiedMatching OMIM:612200 DIPK2A skos:exactMatch ncbigene:205428 semapv:UnspecifiedMatching OMIM:612202 SOX7 skos:exactMatch UMLS:C1425372 semapv:UnspecifiedMatching -OMIM:612202 SOX7 skos:exactMatch hgnc:SOX7 semapv:UnspecifiedMatching +OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:18196 semapv:UnspecifiedMatching +OMIM:612202 SOX7 skos:exactMatch hgnc.symbol:SOX7 semapv:UnspecifiedMatching OMIM:612202 SOX7 skos:exactMatch ncbigene:83595 semapv:UnspecifiedMatching -OMIM:612203 NAP1L5 skos:exactMatch hgnc:NAP1L5 semapv:UnspecifiedMatching +OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:19968 semapv:UnspecifiedMatching +OMIM:612203 NAP1L5 skos:exactMatch hgnc.symbol:NAP1L5 semapv:UnspecifiedMatching OMIM:612203 NAP1L5 skos:exactMatch ncbigene:266812 semapv:UnspecifiedMatching OMIM:612204 ATG9A skos:exactMatch UMLS:C1825499 semapv:UnspecifiedMatching -OMIM:612204 ATG9A skos:exactMatch hgnc:ATG9A semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:22408 semapv:UnspecifiedMatching +OMIM:612204 ATG9A skos:exactMatch hgnc.symbol:ATG9A semapv:UnspecifiedMatching OMIM:612204 ATG9A skos:exactMatch ncbigene:79065 semapv:UnspecifiedMatching OMIM:612205 ATG9B skos:exactMatch UMLS:C1825500 semapv:UnspecifiedMatching -OMIM:612205 ATG9B skos:exactMatch hgnc:ATG9B semapv:UnspecifiedMatching +OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:21899 semapv:UnspecifiedMatching +OMIM:612205 ATG9B skos:exactMatch hgnc.symbol:ATG9B semapv:UnspecifiedMatching OMIM:612205 ATG9B skos:exactMatch ncbigene:285973 semapv:UnspecifiedMatching -OMIM:612206 FJX1 skos:exactMatch hgnc:FJX1 semapv:UnspecifiedMatching +OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:17166 semapv:UnspecifiedMatching +OMIM:612206 FJX1 skos:exactMatch hgnc.symbol:FJX1 semapv:UnspecifiedMatching OMIM:612206 FJX1 skos:exactMatch ncbigene:24147 semapv:UnspecifiedMatching -OMIM:612207 GOLPH3 skos:exactMatch hgnc:GOLPH3 semapv:UnspecifiedMatching +OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:15452 semapv:UnspecifiedMatching +OMIM:612207 GOLPH3 skos:exactMatch hgnc.symbol:GOLPH3 semapv:UnspecifiedMatching OMIM:612207 GOLPH3 skos:exactMatch ncbigene:64083 semapv:UnspecifiedMatching -OMIM:612208 GOLPH3L skos:exactMatch hgnc:GOLPH3L semapv:UnspecifiedMatching +OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:24882 semapv:UnspecifiedMatching +OMIM:612208 GOLPH3L skos:exactMatch hgnc.symbol:GOLPH3L semapv:UnspecifiedMatching OMIM:612208 GOLPH3L skos:exactMatch ncbigene:55204 semapv:UnspecifiedMatching -OMIM:612209 MSGN1 skos:exactMatch hgnc:MSGN1 semapv:UnspecifiedMatching +OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:14907 semapv:UnspecifiedMatching +OMIM:612209 MSGN1 skos:exactMatch hgnc.symbol:MSGN1 semapv:UnspecifiedMatching OMIM:612209 MSGN1 skos:exactMatch ncbigene:343930 semapv:UnspecifiedMatching -OMIM:612210 HULC skos:exactMatch hgnc:HULC semapv:UnspecifiedMatching +OMIM:612210 HULC skos:exactMatch hgnc.symbol:34232 semapv:UnspecifiedMatching +OMIM:612210 HULC skos:exactMatch hgnc.symbol:HULC semapv:UnspecifiedMatching OMIM:612210 HULC skos:exactMatch ncbigene:728655 semapv:UnspecifiedMatching -OMIM:612211 TUSC5 skos:exactMatch hgnc:TRARG1 semapv:UnspecifiedMatching +OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:29592 semapv:UnspecifiedMatching +OMIM:612211 TUSC5 skos:exactMatch hgnc.symbol:TRARG1 semapv:UnspecifiedMatching OMIM:612211 TUSC5 skos:exactMatch ncbigene:286753 semapv:UnspecifiedMatching -OMIM:612212 PLGLA skos:exactMatch hgnc:PLGLA semapv:UnspecifiedMatching +OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:9074 semapv:UnspecifiedMatching +OMIM:612212 PLGLA skos:exactMatch hgnc.symbol:PLGLA semapv:UnspecifiedMatching OMIM:612212 PLGLA skos:exactMatch ncbigene:285189 semapv:UnspecifiedMatching -OMIM:612213 BSPH1 skos:exactMatch hgnc:BSPH1 semapv:UnspecifiedMatching +OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:33906 semapv:UnspecifiedMatching +OMIM:612213 BSPH1 skos:exactMatch hgnc.symbol:BSPH1 semapv:UnspecifiedMatching OMIM:612213 BSPH1 skos:exactMatch ncbigene:100131137 semapv:UnspecifiedMatching -OMIM:612214 RGL4 skos:exactMatch hgnc:RGL4 semapv:UnspecifiedMatching +OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:31911 semapv:UnspecifiedMatching +OMIM:612214 RGL4 skos:exactMatch hgnc.symbol:RGL4 semapv:UnspecifiedMatching OMIM:612214 RGL4 skos:exactMatch ncbigene:266747 semapv:UnspecifiedMatching -OMIM:612215 SNHG6 skos:exactMatch hgnc:SNHG6 semapv:UnspecifiedMatching +OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:32965 semapv:UnspecifiedMatching +OMIM:612215 SNHG6 skos:exactMatch hgnc.symbol:SNHG6 semapv:UnspecifiedMatching OMIM:612215 SNHG6 skos:exactMatch ncbigene:641638 semapv:UnspecifiedMatching -OMIM:612216 SNORD87 skos:exactMatch hgnc:SNORD87 semapv:UnspecifiedMatching +OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:32746 semapv:UnspecifiedMatching +OMIM:612216 SNORD87 skos:exactMatch hgnc.symbol:SNORD87 semapv:UnspecifiedMatching OMIM:612216 SNORD87 skos:exactMatch ncbigene:641648 semapv:UnspecifiedMatching -OMIM:612217 ILRUN skos:exactMatch hgnc:ILRUN semapv:UnspecifiedMatching +OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:21215 semapv:UnspecifiedMatching +OMIM:612217 ILRUN skos:exactMatch hgnc.symbol:ILRUN semapv:UnspecifiedMatching OMIM:612217 ILRUN skos:exactMatch ncbigene:64771 semapv:UnspecifiedMatching -OMIM:612218 ZBTB38 skos:exactMatch hgnc:ZBTB38 semapv:UnspecifiedMatching +OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:26636 semapv:UnspecifiedMatching +OMIM:612218 ZBTB38 skos:exactMatch hgnc.symbol:ZBTB38 semapv:UnspecifiedMatching OMIM:612218 ZBTB38 skos:exactMatch ncbigene:253461 semapv:UnspecifiedMatching -OMIM:612220 B4GALNT3 skos:exactMatch hgnc:B4GALNT3 semapv:UnspecifiedMatching +OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:24137 semapv:UnspecifiedMatching +OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:B4GALNT3 semapv:UnspecifiedMatching OMIM:612220 B4GALNT3 skos:exactMatch ncbigene:283358 semapv:UnspecifiedMatching -OMIM:612222 GALNS skos:exactMatch hgnc:GALNS semapv:UnspecifiedMatching +OMIM:612222 GALNS skos:exactMatch hgnc.symbol:4122 semapv:UnspecifiedMatching +OMIM:612222 GALNS skos:exactMatch hgnc.symbol:GALNS semapv:UnspecifiedMatching OMIM:612222 GALNS skos:exactMatch ncbigene:2588 semapv:UnspecifiedMatching -OMIM:612234 CALHM1 skos:exactMatch hgnc:CALHM1 semapv:UnspecifiedMatching +OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:23494 semapv:UnspecifiedMatching +OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:CALHM1 semapv:UnspecifiedMatching OMIM:612234 CALHM1 skos:exactMatch ncbigene:255022 semapv:UnspecifiedMatching OMIM:612235 CALHM2 skos:exactMatch UMLS:C1539417 semapv:UnspecifiedMatching -OMIM:612235 CALHM2 skos:exactMatch hgnc:CALHM2 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:23493 semapv:UnspecifiedMatching +OMIM:612235 CALHM2 skos:exactMatch hgnc.symbol:CALHM2 semapv:UnspecifiedMatching OMIM:612235 CALHM2 skos:exactMatch ncbigene:51063 semapv:UnspecifiedMatching -OMIM:612236 ERGIC2 skos:exactMatch hgnc:ERGIC2 semapv:UnspecifiedMatching +OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:30208 semapv:UnspecifiedMatching +OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:ERGIC2 semapv:UnspecifiedMatching OMIM:612236 ERGIC2 skos:exactMatch ncbigene:51290 semapv:UnspecifiedMatching -OMIM:612243 ADGRG6 skos:exactMatch hgnc:ADGRG6 semapv:UnspecifiedMatching +OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:13841 semapv:UnspecifiedMatching +OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:ADGRG6 semapv:UnspecifiedMatching OMIM:612243 ADGRG6 skos:exactMatch ncbigene:57211 semapv:UnspecifiedMatching -OMIM:612246 CD302 skos:exactMatch hgnc:CD302 semapv:UnspecifiedMatching +OMIM:612246 CD302 skos:exactMatch hgnc.symbol:30843 semapv:UnspecifiedMatching +OMIM:612246 CD302 skos:exactMatch hgnc.symbol:CD302 semapv:UnspecifiedMatching OMIM:612246 CD302 skos:exactMatch ncbigene:9936 semapv:UnspecifiedMatching -OMIM:612248 ZNF627 skos:exactMatch hgnc:ZNF627 semapv:UnspecifiedMatching +OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:30570 semapv:UnspecifiedMatching +OMIM:612248 ZNF627 skos:exactMatch hgnc.symbol:ZNF627 semapv:UnspecifiedMatching OMIM:612248 ZNF627 skos:exactMatch ncbigene:199692 semapv:UnspecifiedMatching -OMIM:612249 THSD7A skos:exactMatch hgnc:THSD7A semapv:UnspecifiedMatching +OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:22207 semapv:UnspecifiedMatching +OMIM:612249 THSD7A skos:exactMatch hgnc.symbol:THSD7A semapv:UnspecifiedMatching OMIM:612249 THSD7A skos:exactMatch ncbigene:221981 semapv:UnspecifiedMatching -OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc:GPR161 semapv:UnspecifiedMatching +OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:23694 semapv:UnspecifiedMatching +OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch hgnc.symbol:GPR161 semapv:UnspecifiedMatching OMIM:612250 g protein-coupled receptor 161: gpr161 skos:exactMatch ncbigene:23432 semapv:UnspecifiedMatching -OMIM:612252 CLEC9A skos:exactMatch hgnc:CLEC9A semapv:UnspecifiedMatching +OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:26705 semapv:UnspecifiedMatching +OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:CLEC9A semapv:UnspecifiedMatching OMIM:612252 CLEC9A skos:exactMatch ncbigene:283420 semapv:UnspecifiedMatching -OMIM:612256 MAST1 skos:exactMatch hgnc:MAST1 semapv:UnspecifiedMatching +OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:19034 semapv:UnspecifiedMatching +OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:MAST1 semapv:UnspecifiedMatching OMIM:612256 MAST1 skos:exactMatch ncbigene:22983 semapv:UnspecifiedMatching -OMIM:612257 MAST2 skos:exactMatch hgnc:MAST2 semapv:UnspecifiedMatching +OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:19035 semapv:UnspecifiedMatching +OMIM:612257 MAST2 skos:exactMatch hgnc.symbol:MAST2 semapv:UnspecifiedMatching OMIM:612257 MAST2 skos:exactMatch ncbigene:23139 semapv:UnspecifiedMatching -OMIM:612258 MAST3 skos:exactMatch hgnc:MAST3 semapv:UnspecifiedMatching +OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:19036 semapv:UnspecifiedMatching +OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:MAST3 semapv:UnspecifiedMatching OMIM:612258 MAST3 skos:exactMatch ncbigene:23031 semapv:UnspecifiedMatching +OMIM:612260 immunodeficiency 68 skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching OMIM:612260 immunodeficiency 68 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching -OMIM:612260 immunodeficiency 68 skos:exactMatch orphanet.ordo:183713 semapv:UnspecifiedMatching -OMIM:612264 MRC2 skos:exactMatch hgnc:MRC2 semapv:UnspecifiedMatching +OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:16875 semapv:UnspecifiedMatching +OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:MRC2 semapv:UnspecifiedMatching OMIM:612264 MRC2 skos:exactMatch ncbigene:9902 semapv:UnspecifiedMatching -OMIM:612265 FAM120A skos:exactMatch hgnc:FAM120A semapv:UnspecifiedMatching +OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:13247 semapv:UnspecifiedMatching +OMIM:612265 FAM120A skos:exactMatch hgnc.symbol:FAM120A semapv:UnspecifiedMatching OMIM:612265 FAM120A skos:exactMatch ncbigene:23196 semapv:UnspecifiedMatching -OMIM:612266 FAM120B skos:exactMatch hgnc:FAM120B semapv:UnspecifiedMatching +OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:21109 semapv:UnspecifiedMatching +OMIM:612266 FAM120B skos:exactMatch hgnc.symbol:FAM120B semapv:UnspecifiedMatching OMIM:612266 FAM120B skos:exactMatch ncbigene:84498 semapv:UnspecifiedMatching OMIM:612268 TTLL5 skos:exactMatch UMLS:C1823540 semapv:UnspecifiedMatching OMIM:612268 TTLL5 skos:exactMatch UMLS:C4014501 semapv:UnspecifiedMatching -OMIM:612268 TTLL5 skos:exactMatch hgnc:TTLL5 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:19963 semapv:UnspecifiedMatching +OMIM:612268 TTLL5 skos:exactMatch hgnc.symbol:TTLL5 semapv:UnspecifiedMatching OMIM:612268 TTLL5 skos:exactMatch ncbigene:23093 semapv:UnspecifiedMatching -OMIM:612270 CDCA4 skos:exactMatch hgnc:CDCA4 semapv:UnspecifiedMatching +OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:14625 semapv:UnspecifiedMatching +OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:CDCA4 semapv:UnspecifiedMatching OMIM:612270 CDCA4 skos:exactMatch ncbigene:55038 semapv:UnspecifiedMatching -OMIM:612275 GGNBP2 skos:exactMatch hgnc:GGNBP2 semapv:UnspecifiedMatching +OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:19357 semapv:UnspecifiedMatching +OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:GGNBP2 semapv:UnspecifiedMatching OMIM:612275 GGNBP2 skos:exactMatch ncbigene:79893 semapv:UnspecifiedMatching -OMIM:612276 YRDC skos:exactMatch hgnc:YRDC semapv:UnspecifiedMatching +OMIM:612276 YRDC skos:exactMatch hgnc.symbol:28905 semapv:UnspecifiedMatching +OMIM:612276 YRDC skos:exactMatch hgnc.symbol:YRDC semapv:UnspecifiedMatching OMIM:612276 YRDC skos:exactMatch ncbigene:79693 semapv:UnspecifiedMatching -OMIM:612277 ADAMTSL2 skos:exactMatch hgnc:ADAMTSL2 semapv:UnspecifiedMatching +OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:14631 semapv:UnspecifiedMatching +OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:ADAMTSL2 semapv:UnspecifiedMatching OMIM:612277 ADAMTSL2 skos:exactMatch ncbigene:9719 semapv:UnspecifiedMatching -OMIM:612280 FUCA1 skos:exactMatch hgnc:FUCA1 semapv:UnspecifiedMatching +OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:4006 semapv:UnspecifiedMatching +OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:FUCA1 semapv:UnspecifiedMatching OMIM:612280 FUCA1 skos:exactMatch ncbigene:2517 semapv:UnspecifiedMatching -OMIM:612282 ZNF804A skos:exactMatch hgnc:ZNF804A semapv:UnspecifiedMatching +OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:21711 semapv:UnspecifiedMatching +OMIM:612282 ZNF804A skos:exactMatch hgnc.symbol:ZNF804A semapv:UnspecifiedMatching OMIM:612282 ZNF804A skos:exactMatch ncbigene:91752 semapv:UnspecifiedMatching -OMIM:612283 PROC skos:exactMatch hgnc:PROC semapv:UnspecifiedMatching +OMIM:612283 PROC skos:exactMatch hgnc.symbol:9451 semapv:UnspecifiedMatching +OMIM:612283 PROC skos:exactMatch hgnc.symbol:PROC semapv:UnspecifiedMatching OMIM:612283 PROC skos:exactMatch ncbigene:5624 semapv:UnspecifiedMatching +OMIM:612285 joubert syndrome 9 skos:exactMatch Orphanet:2318 semapv:UnspecifiedMatching OMIM:612285 joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:UnspecifiedMatching -OMIM:612285 joubert syndrome 9 skos:exactMatch orphanet.ordo:2318 semapv:UnspecifiedMatching +OMIM:612291 joubert syndrome 8 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching OMIM:612291 joubert syndrome 8 skos:exactMatch UMLS:C2676771 semapv:UnspecifiedMatching -OMIM:612291 joubert syndrome 8 skos:exactMatch orphanet.ordo:475 semapv:UnspecifiedMatching +OMIM:612292 birk-barel syndrome skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching OMIM:612292 birk-barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching -OMIM:612292 birk-barel syndrome skos:exactMatch orphanet.ordo:166108 semapv:UnspecifiedMatching -OMIM:612294 DEPDC7 skos:exactMatch hgnc:DEPDC7 semapv:UnspecifiedMatching +OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:29899 semapv:UnspecifiedMatching +OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:DEPDC7 semapv:UnspecifiedMatching OMIM:612294 DEPDC7 skos:exactMatch ncbigene:91614 semapv:UnspecifiedMatching OMIM:612295 ARL14EP skos:exactMatch UMLS:C1824313 semapv:UnspecifiedMatching -OMIM:612295 ARL14EP skos:exactMatch hgnc:ARL14EP semapv:UnspecifiedMatching +OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:26798 semapv:UnspecifiedMatching +OMIM:612295 ARL14EP skos:exactMatch hgnc.symbol:ARL14EP semapv:UnspecifiedMatching OMIM:612295 ARL14EP skos:exactMatch ncbigene:120534 semapv:UnspecifiedMatching -OMIM:612296 LINC00294 skos:exactMatch hgnc:LINC00294 semapv:UnspecifiedMatching +OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:27456 semapv:UnspecifiedMatching +OMIM:612296 LINC00294 skos:exactMatch hgnc.symbol:LINC00294 semapv:UnspecifiedMatching OMIM:612296 LINC00294 skos:exactMatch ncbigene:283267 semapv:UnspecifiedMatching -OMIM:612297 C11ORF41 skos:exactMatch hgnc:KIAA1549L semapv:UnspecifiedMatching +OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:24836 semapv:UnspecifiedMatching +OMIM:612297 C11ORF41 skos:exactMatch hgnc.symbol:KIAA1549L semapv:UnspecifiedMatching OMIM:612297 C11ORF41 skos:exactMatch ncbigene:25758 semapv:UnspecifiedMatching -OMIM:612298 TRIM44 skos:exactMatch hgnc:TRIM44 semapv:UnspecifiedMatching +OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:19016 semapv:UnspecifiedMatching +OMIM:612298 TRIM44 skos:exactMatch hgnc.symbol:TRIM44 semapv:UnspecifiedMatching OMIM:612298 TRIM44 skos:exactMatch ncbigene:54765 semapv:UnspecifiedMatching -OMIM:612299 COMMD9 skos:exactMatch hgnc:COMMD9 semapv:UnspecifiedMatching +OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:25014 semapv:UnspecifiedMatching +OMIM:612299 COMMD9 skos:exactMatch hgnc.symbol:COMMD9 semapv:UnspecifiedMatching OMIM:612299 COMMD9 skos:exactMatch ncbigene:29099 semapv:UnspecifiedMatching -OMIM:612302 ADGRA1 skos:exactMatch hgnc:ADGRA1 semapv:UnspecifiedMatching +OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:13838 semapv:UnspecifiedMatching +OMIM:612302 ADGRA1 skos:exactMatch hgnc.symbol:ADGRA1 semapv:UnspecifiedMatching OMIM:612302 ADGRA1 skos:exactMatch ncbigene:84435 semapv:UnspecifiedMatching -OMIM:612303 ADGRA3 skos:exactMatch hgnc:ADGRA3 semapv:UnspecifiedMatching +OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:13839 semapv:UnspecifiedMatching +OMIM:612303 ADGRA3 skos:exactMatch hgnc.symbol:ADGRA3 semapv:UnspecifiedMatching OMIM:612303 ADGRA3 skos:exactMatch ncbigene:166647 semapv:UnspecifiedMatching -OMIM:612305 ADGRE4P skos:exactMatch hgnc:ADGRE4P semapv:UnspecifiedMatching +OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:19240 semapv:UnspecifiedMatching +OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:ADGRE4P semapv:UnspecifiedMatching OMIM:612305 ADGRE4P skos:exactMatch ncbigene:326342 semapv:UnspecifiedMatching -OMIM:612307 ADGRG7 skos:exactMatch hgnc:ADGRG7 semapv:UnspecifiedMatching +OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:19241 semapv:UnspecifiedMatching +OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:ADGRG7 semapv:UnspecifiedMatching OMIM:612307 ADGRG7 skos:exactMatch ncbigene:84873 semapv:UnspecifiedMatching -OMIM:612308 ZBTB4 skos:exactMatch hgnc:ZBTB4 semapv:UnspecifiedMatching +OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:23847 semapv:UnspecifiedMatching +OMIM:612308 ZBTB4 skos:exactMatch hgnc.symbol:ZBTB4 semapv:UnspecifiedMatching OMIM:612308 ZBTB4 skos:exactMatch ncbigene:57659 semapv:UnspecifiedMatching -OMIM:612309 F5 skos:exactMatch hgnc:F5 semapv:UnspecifiedMatching +OMIM:612309 F5 skos:exactMatch hgnc.symbol:3542 semapv:UnspecifiedMatching +OMIM:612309 F5 skos:exactMatch hgnc.symbol:F5 semapv:UnspecifiedMatching OMIM:612309 F5 skos:exactMatch ncbigene:2153 semapv:UnspecifiedMatching -OMIM:612314 GSTO2 skos:exactMatch hgnc:GSTO2 semapv:UnspecifiedMatching +OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:23064 semapv:UnspecifiedMatching +OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:GSTO2 semapv:UnspecifiedMatching OMIM:612314 GSTO2 skos:exactMatch ncbigene:119391 semapv:UnspecifiedMatching -OMIM:612315 KRT6C skos:exactMatch hgnc:KRT6C semapv:UnspecifiedMatching +OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:20406 semapv:UnspecifiedMatching +OMIM:612315 KRT6C skos:exactMatch hgnc.symbol:KRT6C semapv:UnspecifiedMatching OMIM:612315 KRT6C skos:exactMatch ncbigene:286887 semapv:UnspecifiedMatching OMIM:612316 ATAD3A skos:exactMatch UMLS:C1428501 semapv:UnspecifiedMatching OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching OMIM:612316 ATAD3A skos:exactMatch UMLS:C4310856 semapv:UnspecifiedMatching OMIM:612316 ATAD3A skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching -OMIM:612316 ATAD3A skos:exactMatch hgnc:ATAD3A semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:25567 semapv:UnspecifiedMatching +OMIM:612316 ATAD3A skos:exactMatch hgnc.symbol:ATAD3A semapv:UnspecifiedMatching OMIM:612316 ATAD3A skos:exactMatch ncbigene:55210 semapv:UnspecifiedMatching -OMIM:612317 ATAD3B skos:exactMatch hgnc:ATAD3B semapv:UnspecifiedMatching +OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:24007 semapv:UnspecifiedMatching +OMIM:612317 ATAD3B skos:exactMatch hgnc.symbol:ATAD3B semapv:UnspecifiedMatching OMIM:612317 ATAD3B skos:exactMatch ncbigene:83858 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:171629 semapv:UnspecifiedMatching +OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch Orphanet:329308 semapv:UnspecifiedMatching OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3496228 semapv:UnspecifiedMatching OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch UMLS:C3668943 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch orphanet.ordo:171629 semapv:UnspecifiedMatching -OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration skos:exactMatch orphanet.ordo:329308 semapv:UnspecifiedMatching -OMIM:612320 CDCP2 skos:exactMatch hgnc:CDCP2 semapv:UnspecifiedMatching +OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:27297 semapv:UnspecifiedMatching +OMIM:612320 CDCP2 skos:exactMatch hgnc.symbol:CDCP2 semapv:UnspecifiedMatching OMIM:612320 CDCP2 skos:exactMatch ncbigene:200008 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch UMLS:C1825280 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching -OMIM:612322 FASTKD2 skos:exactMatch hgnc:FASTKD2 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:29160 semapv:UnspecifiedMatching +OMIM:612322 FASTKD2 skos:exactMatch hgnc.symbol:FASTKD2 semapv:UnspecifiedMatching OMIM:612322 FASTKD2 skos:exactMatch ncbigene:22868 semapv:UnspecifiedMatching OMIM:612323 IMMP1L skos:exactMatch UMLS:C1825596 semapv:UnspecifiedMatching -OMIM:612323 IMMP1L skos:exactMatch hgnc:IMMP1L semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:26317 semapv:UnspecifiedMatching +OMIM:612323 IMMP1L skos:exactMatch hgnc.symbol:IMMP1L semapv:UnspecifiedMatching OMIM:612323 IMMP1L skos:exactMatch ncbigene:196294 semapv:UnspecifiedMatching -OMIM:612324 CCDC34 skos:exactMatch hgnc:CCDC34 semapv:UnspecifiedMatching +OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:25079 semapv:UnspecifiedMatching +OMIM:612324 CCDC34 skos:exactMatch hgnc.symbol:CCDC34 semapv:UnspecifiedMatching OMIM:612324 CCDC34 skos:exactMatch ncbigene:91057 semapv:UnspecifiedMatching -OMIM:612325 ICK skos:exactMatch hgnc:CILK1 semapv:UnspecifiedMatching +OMIM:612325 ICK skos:exactMatch hgnc.symbol:21219 semapv:UnspecifiedMatching +OMIM:612325 ICK skos:exactMatch hgnc.symbol:CILK1 semapv:UnspecifiedMatching OMIM:612325 ICK skos:exactMatch ncbigene:22858 semapv:UnspecifiedMatching -OMIM:612326 TCF25 skos:exactMatch hgnc:TCF25 semapv:UnspecifiedMatching +OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:29181 semapv:UnspecifiedMatching +OMIM:612326 TCF25 skos:exactMatch hgnc.symbol:TCF25 semapv:UnspecifiedMatching OMIM:612326 TCF25 skos:exactMatch ncbigene:22980 semapv:UnspecifiedMatching -OMIM:612327 MANEA skos:exactMatch hgnc:MANEA semapv:UnspecifiedMatching +OMIM:612327 MANEA skos:exactMatch hgnc.symbol:21072 semapv:UnspecifiedMatching +OMIM:612327 MANEA skos:exactMatch hgnc.symbol:MANEA semapv:UnspecifiedMatching OMIM:612327 MANEA skos:exactMatch ncbigene:79694 semapv:UnspecifiedMatching -OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc:CCDC73 semapv:UnspecifiedMatching +OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:23261 semapv:UnspecifiedMatching +OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch hgnc.symbol:CCDC73 semapv:UnspecifiedMatching OMIM:612328 coiled-coil domain-containing protein 73: ccdc73 skos:exactMatch ncbigene:493860 semapv:UnspecifiedMatching -OMIM:612329 MIR30A skos:exactMatch hgnc:MIR30A semapv:UnspecifiedMatching +OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:31624 semapv:UnspecifiedMatching +OMIM:612329 MIR30A skos:exactMatch hgnc.symbol:MIR30A semapv:UnspecifiedMatching OMIM:612329 MIR30A skos:exactMatch ncbigene:407029 semapv:UnspecifiedMatching -OMIM:612330 MIRN610 skos:exactMatch hgnc:MIR610 semapv:UnspecifiedMatching +OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:32866 semapv:UnspecifiedMatching +OMIM:612330 MIRN610 skos:exactMatch hgnc.symbol:MIR610 semapv:UnspecifiedMatching OMIM:612330 MIRN610 skos:exactMatch ncbigene:693195 semapv:UnspecifiedMatching -OMIM:612331 LIN7B skos:exactMatch hgnc:LIN7B semapv:UnspecifiedMatching +OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:17788 semapv:UnspecifiedMatching +OMIM:612331 LIN7B skos:exactMatch hgnc.symbol:LIN7B semapv:UnspecifiedMatching OMIM:612331 LIN7B skos:exactMatch ncbigene:64130 semapv:UnspecifiedMatching -OMIM:612332 LIN7C skos:exactMatch hgnc:LIN7C semapv:UnspecifiedMatching +OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:17789 semapv:UnspecifiedMatching +OMIM:612332 LIN7C skos:exactMatch hgnc.symbol:LIN7C semapv:UnspecifiedMatching OMIM:612332 LIN7C skos:exactMatch ncbigene:55327 semapv:UnspecifiedMatching -OMIM:612333 PDCD11 skos:exactMatch hgnc:PDCD11 semapv:UnspecifiedMatching +OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:13408 semapv:UnspecifiedMatching +OMIM:612333 PDCD11 skos:exactMatch hgnc.symbol:PDCD11 semapv:UnspecifiedMatching OMIM:612333 PDCD11 skos:exactMatch ncbigene:22984 semapv:UnspecifiedMatching -OMIM:612334 NAPEPLD skos:exactMatch hgnc:NAPEPLD semapv:UnspecifiedMatching +OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:21683 semapv:UnspecifiedMatching +OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:NAPEPLD semapv:UnspecifiedMatching OMIM:612334 NAPEPLD skos:exactMatch ncbigene:222236 semapv:UnspecifiedMatching -OMIM:612338 GGTLC1 skos:exactMatch hgnc:GGTLC1 semapv:UnspecifiedMatching +OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:16437 semapv:UnspecifiedMatching +OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:GGTLC1 semapv:UnspecifiedMatching OMIM:612338 GGTLC1 skos:exactMatch ncbigene:92086 semapv:UnspecifiedMatching -OMIM:612339 GGTLC2 skos:exactMatch hgnc:GGTLC2 semapv:UnspecifiedMatching +OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:18596 semapv:UnspecifiedMatching +OMIM:612339 GGTLC2 skos:exactMatch hgnc.symbol:GGTLC2 semapv:UnspecifiedMatching OMIM:612339 GGTLC2 skos:exactMatch ncbigene:91227 semapv:UnspecifiedMatching -OMIM:612340 GGTLC3 skos:exactMatch hgnc:GGTLC3 semapv:UnspecifiedMatching +OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:33426 semapv:UnspecifiedMatching +OMIM:612340 GGTLC3 skos:exactMatch hgnc.symbol:GGTLC3 semapv:UnspecifiedMatching OMIM:612340 GGTLC3 skos:exactMatch ncbigene:728226 semapv:UnspecifiedMatching -OMIM:612341 GGT6 skos:exactMatch hgnc:GGT6 semapv:UnspecifiedMatching +OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:26891 semapv:UnspecifiedMatching +OMIM:612341 GGT6 skos:exactMatch hgnc.symbol:GGT6 semapv:UnspecifiedMatching OMIM:612341 GGT6 skos:exactMatch ncbigene:124975 semapv:UnspecifiedMatching -OMIM:612342 GGT7 skos:exactMatch hgnc:GGT7 semapv:UnspecifiedMatching +OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:4259 semapv:UnspecifiedMatching +OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:GGT7 semapv:UnspecifiedMatching OMIM:612342 GGT7 skos:exactMatch ncbigene:2686 semapv:UnspecifiedMatching -OMIM:612344 ZNF385B skos:exactMatch hgnc:ZNF385B semapv:UnspecifiedMatching +OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:26332 semapv:UnspecifiedMatching +OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:ZNF385B semapv:UnspecifiedMatching OMIM:612344 ZNF385B skos:exactMatch ncbigene:151126 semapv:UnspecifiedMatching -OMIM:612346 GGT1 skos:exactMatch hgnc:GGT1 semapv:UnspecifiedMatching +OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:4250 semapv:UnspecifiedMatching +OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:GGT1 semapv:UnspecifiedMatching OMIM:612346 GGT1 skos:exactMatch ncbigene:2678 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C1418251 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C2676533 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C2678416 semapv:UnspecifiedMatching -OMIM:612349 PAH skos:exactMatch hgnc:PAH semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch hgnc.symbol:8582 semapv:UnspecifiedMatching +OMIM:612349 PAH skos:exactMatch hgnc.symbol:PAH semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch ncbigene:5053 semapv:UnspecifiedMatching -OMIM:612351 FOXI3 skos:exactMatch hgnc:FOXI3 semapv:UnspecifiedMatching +OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:35123 semapv:UnspecifiedMatching +OMIM:612351 FOXI3 skos:exactMatch hgnc.symbol:FOXI3 semapv:UnspecifiedMatching OMIM:612351 FOXI3 skos:exactMatch ncbigene:344167 semapv:UnspecifiedMatching -OMIM:612352 STAMBPL1 skos:exactMatch hgnc:STAMBPL1 semapv:UnspecifiedMatching +OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:24105 semapv:UnspecifiedMatching +OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:STAMBPL1 semapv:UnspecifiedMatching OMIM:612352 STAMBPL1 skos:exactMatch ncbigene:57559 semapv:UnspecifiedMatching -OMIM:612358 KNG1 skos:exactMatch hgnc:KNG1 semapv:UnspecifiedMatching +OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:6383 semapv:UnspecifiedMatching +OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:KNG1 semapv:UnspecifiedMatching OMIM:612358 KNG1 skos:exactMatch ncbigene:3827 semapv:UnspecifiedMatching -OMIM:612360 NDUFAF5 skos:exactMatch hgnc:NDUFAF5 semapv:UnspecifiedMatching +OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:15899 semapv:UnspecifiedMatching +OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:NDUFAF5 semapv:UnspecifiedMatching OMIM:612360 NDUFAF5 skos:exactMatch ncbigene:79133 semapv:UnspecifiedMatching -OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc:SLC29A3 semapv:UnspecifiedMatching +OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:23096 semapv:UnspecifiedMatching +OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:SLC29A3 semapv:UnspecifiedMatching OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch ncbigene:55315 semapv:UnspecifiedMatching OMIM:612374 STING1 skos:exactMatch UMLS:C1823437 semapv:UnspecifiedMatching OMIM:612374 STING1 skos:exactMatch UMLS:C4014722 semapv:UnspecifiedMatching -OMIM:612374 STING1 skos:exactMatch hgnc:STING1 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch hgnc.symbol:27962 semapv:UnspecifiedMatching +OMIM:612374 STING1 skos:exactMatch hgnc.symbol:STING1 semapv:UnspecifiedMatching OMIM:612374 STING1 skos:exactMatch ncbigene:340061 semapv:UnspecifiedMatching -OMIM:612375 AIDA skos:exactMatch hgnc:AIDA semapv:UnspecifiedMatching +OMIM:612375 AIDA skos:exactMatch hgnc.symbol:25761 semapv:UnspecifiedMatching +OMIM:612375 AIDA skos:exactMatch hgnc.symbol:AIDA semapv:UnspecifiedMatching OMIM:612375 AIDA skos:exactMatch ncbigene:64853 semapv:UnspecifiedMatching -OMIM:612377 COMMD6 skos:exactMatch hgnc:COMMD6 semapv:UnspecifiedMatching +OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:24015 semapv:UnspecifiedMatching +OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:COMMD6 semapv:UnspecifiedMatching OMIM:612377 COMMD6 skos:exactMatch ncbigene:170622 semapv:UnspecifiedMatching -OMIM:612382 MED10 skos:exactMatch hgnc:MED10 semapv:UnspecifiedMatching +OMIM:612382 MED10 skos:exactMatch hgnc.symbol:28760 semapv:UnspecifiedMatching +OMIM:612382 MED10 skos:exactMatch hgnc.symbol:MED10 semapv:UnspecifiedMatching OMIM:612382 MED10 skos:exactMatch ncbigene:84246 semapv:UnspecifiedMatching -OMIM:612383 MED11 skos:exactMatch hgnc:MED11 semapv:UnspecifiedMatching +OMIM:612383 MED11 skos:exactMatch hgnc.symbol:32687 semapv:UnspecifiedMatching +OMIM:612383 MED11 skos:exactMatch hgnc.symbol:MED11 semapv:UnspecifiedMatching OMIM:612383 MED11 skos:exactMatch ncbigene:400569 semapv:UnspecifiedMatching -OMIM:612384 MED18 skos:exactMatch hgnc:MED18 semapv:UnspecifiedMatching +OMIM:612384 MED18 skos:exactMatch hgnc.symbol:25944 semapv:UnspecifiedMatching +OMIM:612384 MED18 skos:exactMatch hgnc.symbol:MED18 semapv:UnspecifiedMatching OMIM:612384 MED18 skos:exactMatch ncbigene:54797 semapv:UnspecifiedMatching -OMIM:612385 MED19 skos:exactMatch hgnc:MED19 semapv:UnspecifiedMatching +OMIM:612385 MED19 skos:exactMatch hgnc.symbol:29600 semapv:UnspecifiedMatching +OMIM:612385 MED19 skos:exactMatch hgnc.symbol:MED19 semapv:UnspecifiedMatching OMIM:612385 MED19 skos:exactMatch ncbigene:219541 semapv:UnspecifiedMatching OMIM:612386 FECH skos:exactMatch UMLS:C1414580 semapv:UnspecifiedMatching OMIM:612386 FECH skos:exactMatch UMLS:C4692546 semapv:UnspecifiedMatching -OMIM:612386 FECH skos:exactMatch hgnc:FECH semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch hgnc.symbol:3647 semapv:UnspecifiedMatching +OMIM:612386 FECH skos:exactMatch hgnc.symbol:FECH semapv:UnspecifiedMatching OMIM:612386 FECH skos:exactMatch ncbigene:2235 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C1824247 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching -OMIM:612392 NDUFAF6 skos:exactMatch hgnc:NDUFAF6 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:28625 semapv:UnspecifiedMatching +OMIM:612392 NDUFAF6 skos:exactMatch hgnc.symbol:NDUFAF6 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch ncbigene:137682 semapv:UnspecifiedMatching -OMIM:612393 WHAMM skos:exactMatch hgnc:WHAMM semapv:UnspecifiedMatching +OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:30493 semapv:UnspecifiedMatching +OMIM:612393 WHAMM skos:exactMatch hgnc.symbol:WHAMM semapv:UnspecifiedMatching OMIM:612393 WHAMM skos:exactMatch ncbigene:123720 semapv:UnspecifiedMatching -OMIM:612395 CHKB skos:exactMatch hgnc:CHKB semapv:UnspecifiedMatching +OMIM:612395 CHKB skos:exactMatch hgnc.symbol:1938 semapv:UnspecifiedMatching +OMIM:612395 CHKB skos:exactMatch hgnc.symbol:CHKB semapv:UnspecifiedMatching OMIM:612395 CHKB skos:exactMatch ncbigene:1120 semapv:UnspecifiedMatching -OMIM:612396 allantoicase skos:exactMatch hgnc:ALLC semapv:UnspecifiedMatching -OMIM:612397 COL6A4P1 skos:exactMatch hgnc:COL6A4P1 semapv:UnspecifiedMatching +OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:17377 semapv:UnspecifiedMatching +OMIM:612396 allantoicase skos:exactMatch hgnc.symbol:ALLC semapv:UnspecifiedMatching +OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:33484 semapv:UnspecifiedMatching +OMIM:612397 COL6A4P1 skos:exactMatch hgnc.symbol:COL6A4P1 semapv:UnspecifiedMatching OMIM:612397 COL6A4P1 skos:exactMatch ncbigene:344875 semapv:UnspecifiedMatching -OMIM:612398 RAB21 skos:exactMatch hgnc:RAB21 semapv:UnspecifiedMatching +OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:18263 semapv:UnspecifiedMatching +OMIM:612398 RAB21 skos:exactMatch hgnc.symbol:RAB21 semapv:UnspecifiedMatching OMIM:612398 RAB21 skos:exactMatch ncbigene:23011 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch UMLS:C1539970 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching -OMIM:612399 TLE6 skos:exactMatch hgnc:TLE6 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:30788 semapv:UnspecifiedMatching +OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:TLE6 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch ncbigene:79816 semapv:UnspecifiedMatching -OMIM:612402 ALS2CL skos:exactMatch hgnc:ALS2CL semapv:UnspecifiedMatching +OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:20605 semapv:UnspecifiedMatching +OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:ALS2CL semapv:UnspecifiedMatching OMIM:612402 ALS2CL skos:exactMatch ncbigene:259173 semapv:UnspecifiedMatching OMIM:612403 RASL11A skos:exactMatch UMLS:C1428270 semapv:UnspecifiedMatching -OMIM:612403 RASL11A skos:exactMatch hgnc:RASL11A semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:23802 semapv:UnspecifiedMatching +OMIM:612403 RASL11A skos:exactMatch hgnc.symbol:RASL11A semapv:UnspecifiedMatching OMIM:612403 RASL11A skos:exactMatch ncbigene:387496 semapv:UnspecifiedMatching -OMIM:612404 RASL11B skos:exactMatch hgnc:RASL11B semapv:UnspecifiedMatching +OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:23804 semapv:UnspecifiedMatching +OMIM:612404 RASL11B skos:exactMatch hgnc.symbol:RASL11B semapv:UnspecifiedMatching OMIM:612404 RASL11B skos:exactMatch ncbigene:65997 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch UMLS:C1428141 semapv:UnspecifiedMatching -OMIM:612405 ARL9 skos:exactMatch hgnc:ARL9 semapv:UnspecifiedMatching +OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:23592 semapv:UnspecifiedMatching +OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:ARL9 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch ncbigene:132946 semapv:UnspecifiedMatching -OMIM:612407 RGS21 skos:exactMatch hgnc:RGS21 semapv:UnspecifiedMatching +OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:26839 semapv:UnspecifiedMatching +OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:RGS21 semapv:UnspecifiedMatching OMIM:612407 RGS21 skos:exactMatch ncbigene:431704 semapv:UnspecifiedMatching -OMIM:612408 PSPC1 skos:exactMatch hgnc:PSPC1 semapv:UnspecifiedMatching +OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:20320 semapv:UnspecifiedMatching +OMIM:612408 PSPC1 skos:exactMatch hgnc.symbol:PSPC1 semapv:UnspecifiedMatching OMIM:612408 PSPC1 skos:exactMatch ncbigene:55269 semapv:UnspecifiedMatching -OMIM:612409 RBM14 skos:exactMatch hgnc:RBM14 semapv:UnspecifiedMatching +OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:14219 semapv:UnspecifiedMatching +OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:RBM14 semapv:UnspecifiedMatching OMIM:612409 RBM14 skos:exactMatch ncbigene:10432 semapv:UnspecifiedMatching -OMIM:612411 FAT4 skos:exactMatch hgnc:FAT4 semapv:UnspecifiedMatching +OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:23109 semapv:UnspecifiedMatching +OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:FAT4 semapv:UnspecifiedMatching OMIM:612411 FAT4 skos:exactMatch ncbigene:79633 semapv:UnspecifiedMatching OMIM:612412 SPATC1L skos:exactMatch UMLS:C1412978 semapv:UnspecifiedMatching OMIM:612412 SPATC1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:612412 SPATC1L skos:exactMatch hgnc:SPATC1L semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:1298 semapv:UnspecifiedMatching +OMIM:612412 SPATC1L skos:exactMatch hgnc.symbol:SPATC1L semapv:UnspecifiedMatching OMIM:612412 SPATC1L skos:exactMatch ncbigene:84221 semapv:UnspecifiedMatching -OMIM:612413 RBM7 skos:exactMatch hgnc:RBM7 semapv:UnspecifiedMatching +OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:9904 semapv:UnspecifiedMatching +OMIM:612413 RBM7 skos:exactMatch hgnc.symbol:RBM7 semapv:UnspecifiedMatching OMIM:612413 RBM7 skos:exactMatch ncbigene:10179 semapv:UnspecifiedMatching -OMIM:612414 LRTOMT skos:exactMatch hgnc:LRTOMT semapv:UnspecifiedMatching +OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:25033 semapv:UnspecifiedMatching +OMIM:612414 LRTOMT skos:exactMatch hgnc.symbol:LRTOMT semapv:UnspecifiedMatching OMIM:612414 LRTOMT skos:exactMatch ncbigene:220074 semapv:UnspecifiedMatching -OMIM:612415 RAB24 skos:exactMatch hgnc:RAB24 semapv:UnspecifiedMatching +OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:9765 semapv:UnspecifiedMatching +OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:RAB24 semapv:UnspecifiedMatching OMIM:612415 RAB24 skos:exactMatch ncbigene:53917 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch UMLS:C1823334 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching -OMIM:612418 TMEM70 skos:exactMatch hgnc:TMEM70 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:26050 semapv:UnspecifiedMatching +OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:TMEM70 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch ncbigene:54968 semapv:UnspecifiedMatching -OMIM:612419 CILP2 skos:exactMatch hgnc:CILP2 semapv:UnspecifiedMatching +OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:24213 semapv:UnspecifiedMatching +OMIM:612419 CILP2 skos:exactMatch hgnc.symbol:CILP2 semapv:UnspecifiedMatching OMIM:612419 CILP2 skos:exactMatch ncbigene:148113 semapv:UnspecifiedMatching -OMIM:612420 AFAP1L2 skos:exactMatch hgnc:AFAP1L2 semapv:UnspecifiedMatching +OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:25901 semapv:UnspecifiedMatching +OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:AFAP1L2 semapv:UnspecifiedMatching OMIM:612420 AFAP1L2 skos:exactMatch ncbigene:84632 semapv:UnspecifiedMatching -OMIM:612424 EYS skos:exactMatch hgnc:EYS semapv:UnspecifiedMatching +OMIM:612424 EYS skos:exactMatch hgnc.symbol:21555 semapv:UnspecifiedMatching +OMIM:612424 EYS skos:exactMatch hgnc.symbol:EYS semapv:UnspecifiedMatching OMIM:612424 EYS skos:exactMatch ncbigene:346007 semapv:UnspecifiedMatching OMIM:612425 SGOL2 skos:exactMatch UMLS:C1429002 semapv:UnspecifiedMatching -OMIM:612425 SGOL2 skos:exactMatch hgnc:SGO2 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:30812 semapv:UnspecifiedMatching +OMIM:612425 SGOL2 skos:exactMatch hgnc.symbol:SGO2 semapv:UnspecifiedMatching OMIM:612425 SGOL2 skos:exactMatch ncbigene:151246 semapv:UnspecifiedMatching -OMIM:612426 RMI2 skos:exactMatch hgnc:RMI2 semapv:UnspecifiedMatching +OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:28349 semapv:UnspecifiedMatching +OMIM:612426 RMI2 skos:exactMatch hgnc.symbol:RMI2 semapv:UnspecifiedMatching OMIM:612426 RMI2 skos:exactMatch ncbigene:116028 semapv:UnspecifiedMatching -OMIM:612427 RBM25 skos:exactMatch hgnc:RBM25 semapv:UnspecifiedMatching +OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:23244 semapv:UnspecifiedMatching +OMIM:612427 RBM25 skos:exactMatch hgnc.symbol:RBM25 semapv:UnspecifiedMatching OMIM:612427 RBM25 skos:exactMatch ncbigene:58517 semapv:UnspecifiedMatching -OMIM:612428 RBM38 skos:exactMatch hgnc:RBM38 semapv:UnspecifiedMatching +OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:15818 semapv:UnspecifiedMatching +OMIM:612428 RBM38 skos:exactMatch hgnc.symbol:RBM38 semapv:UnspecifiedMatching OMIM:612428 RBM38 skos:exactMatch ncbigene:55544 semapv:UnspecifiedMatching -OMIM:612429 ZNF300 skos:exactMatch hgnc:ZNF300 semapv:UnspecifiedMatching +OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:13091 semapv:UnspecifiedMatching +OMIM:612429 ZNF300 skos:exactMatch hgnc.symbol:ZNF300 semapv:UnspecifiedMatching OMIM:612429 ZNF300 skos:exactMatch ncbigene:91975 semapv:UnspecifiedMatching -OMIM:612430 RBM22 skos:exactMatch hgnc:RBM22 semapv:UnspecifiedMatching +OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:25503 semapv:UnspecifiedMatching +OMIM:612430 RBM22 skos:exactMatch hgnc.symbol:RBM22 semapv:UnspecifiedMatching OMIM:612430 RBM22 skos:exactMatch ncbigene:55696 semapv:UnspecifiedMatching -OMIM:612432 WIPF3 skos:exactMatch hgnc:WIPF3 semapv:UnspecifiedMatching +OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:22004 semapv:UnspecifiedMatching +OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:WIPF3 semapv:UnspecifiedMatching OMIM:612432 WIPF3 skos:exactMatch ncbigene:644150 semapv:UnspecifiedMatching -OMIM:612434 CRISPLD2 skos:exactMatch hgnc:CRISPLD2 semapv:UnspecifiedMatching +OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:25248 semapv:UnspecifiedMatching +OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:CRISPLD2 semapv:UnspecifiedMatching OMIM:612434 CRISPLD2 skos:exactMatch ncbigene:83716 semapv:UnspecifiedMatching -OMIM:612435 SLCO3A1 skos:exactMatch hgnc:SLCO3A1 semapv:UnspecifiedMatching +OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:10952 semapv:UnspecifiedMatching +OMIM:612435 SLCO3A1 skos:exactMatch hgnc.symbol:SLCO3A1 semapv:UnspecifiedMatching OMIM:612435 SLCO3A1 skos:exactMatch ncbigene:28232 semapv:UnspecifiedMatching -OMIM:612436 SLCO4A1 skos:exactMatch hgnc:SLCO4A1 semapv:UnspecifiedMatching +OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:10953 semapv:UnspecifiedMatching +OMIM:612436 SLCO4A1 skos:exactMatch hgnc.symbol:SLCO4A1 semapv:UnspecifiedMatching OMIM:612436 SLCO4A1 skos:exactMatch ncbigene:28231 semapv:UnspecifiedMatching -OMIM:612439 ARFGAP3 skos:exactMatch hgnc:ARFGAP3 semapv:UnspecifiedMatching +OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:661 semapv:UnspecifiedMatching +OMIM:612439 ARFGAP3 skos:exactMatch hgnc.symbol:ARFGAP3 semapv:UnspecifiedMatching OMIM:612439 ARFGAP3 skos:exactMatch ncbigene:26286 semapv:UnspecifiedMatching -OMIM:612441 MGAT5B skos:exactMatch hgnc:MGAT5B semapv:UnspecifiedMatching +OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:24140 semapv:UnspecifiedMatching +OMIM:612441 MGAT5B skos:exactMatch hgnc.symbol:MGAT5B semapv:UnspecifiedMatching OMIM:612441 MGAT5B skos:exactMatch ncbigene:146664 semapv:UnspecifiedMatching -OMIM:612442 SEC22A skos:exactMatch hgnc:SEC22A semapv:UnspecifiedMatching +OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:20260 semapv:UnspecifiedMatching +OMIM:612442 SEC22A skos:exactMatch hgnc.symbol:SEC22A semapv:UnspecifiedMatching OMIM:612442 SEC22A skos:exactMatch ncbigene:26984 semapv:UnspecifiedMatching -OMIM:612449 GEN1 skos:exactMatch hgnc:GEN1 semapv:UnspecifiedMatching +OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:26881 semapv:UnspecifiedMatching +OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:GEN1 semapv:UnspecifiedMatching OMIM:612449 GEN1 skos:exactMatch ncbigene:348654 semapv:UnspecifiedMatching -OMIM:612450 HBS1L skos:exactMatch hgnc:HBS1L semapv:UnspecifiedMatching +OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:4834 semapv:UnspecifiedMatching +OMIM:612450 HBS1L skos:exactMatch hgnc.symbol:HBS1L semapv:UnspecifiedMatching OMIM:612450 HBS1L skos:exactMatch ncbigene:10767 semapv:UnspecifiedMatching -OMIM:612451 RNF114 skos:exactMatch hgnc:RNF114 semapv:UnspecifiedMatching +OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:13094 semapv:UnspecifiedMatching +OMIM:612451 RNF114 skos:exactMatch hgnc.symbol:RNF114 semapv:UnspecifiedMatching OMIM:612451 RNF114 skos:exactMatch ncbigene:55905 semapv:UnspecifiedMatching -OMIM:612452 KANSL1 skos:exactMatch hgnc:KANSL1 semapv:UnspecifiedMatching +OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:24565 semapv:UnspecifiedMatching +OMIM:612452 KANSL1 skos:exactMatch hgnc.symbol:KANSL1 semapv:UnspecifiedMatching OMIM:612452 KANSL1 skos:exactMatch ncbigene:284058 semapv:UnspecifiedMatching -OMIM:612453 MEGF10 skos:exactMatch hgnc:MEGF10 semapv:UnspecifiedMatching +OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:29634 semapv:UnspecifiedMatching +OMIM:612453 MEGF10 skos:exactMatch hgnc.symbol:MEGF10 semapv:UnspecifiedMatching OMIM:612453 MEGF10 skos:exactMatch ncbigene:84466 semapv:UnspecifiedMatching -OMIM:612454 MEGF11 skos:exactMatch hgnc:MEGF11 semapv:UnspecifiedMatching +OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:29635 semapv:UnspecifiedMatching +OMIM:612454 MEGF11 skos:exactMatch hgnc.symbol:MEGF11 semapv:UnspecifiedMatching OMIM:612454 MEGF11 skos:exactMatch ncbigene:84465 semapv:UnspecifiedMatching -OMIM:612455 SLC5A12 skos:exactMatch hgnc:SLC5A12 semapv:UnspecifiedMatching +OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:28750 semapv:UnspecifiedMatching +OMIM:612455 SLC5A12 skos:exactMatch hgnc.symbol:SLC5A12 semapv:UnspecifiedMatching OMIM:612455 SLC5A12 skos:exactMatch ncbigene:159963 semapv:UnspecifiedMatching -OMIM:612456 APOLD1 skos:exactMatch hgnc:APOLD1 semapv:UnspecifiedMatching +OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:25268 semapv:UnspecifiedMatching +OMIM:612456 APOLD1 skos:exactMatch hgnc.symbol:APOLD1 semapv:UnspecifiedMatching OMIM:612456 APOLD1 skos:exactMatch ncbigene:81575 semapv:UnspecifiedMatching -OMIM:612457 ARID3B skos:exactMatch hgnc:ARID3B semapv:UnspecifiedMatching +OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:14350 semapv:UnspecifiedMatching +OMIM:612457 ARID3B skos:exactMatch hgnc.symbol:ARID3B semapv:UnspecifiedMatching OMIM:612457 ARID3B skos:exactMatch ncbigene:10620 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch UMLS:C1538908 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching -OMIM:612458 ACTL6B skos:exactMatch hgnc:ACTL6B semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:160 semapv:UnspecifiedMatching +OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:ACTL6B semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch ncbigene:51412 semapv:UnspecifiedMatching -OMIM:612461 ARC skos:exactMatch hgnc:ARC semapv:UnspecifiedMatching +OMIM:612461 ARC skos:exactMatch hgnc.symbol:648 semapv:UnspecifiedMatching +OMIM:612461 ARC skos:exactMatch hgnc.symbol:ARC semapv:UnspecifiedMatching OMIM:612461 ARC skos:exactMatch ncbigene:23237 semapv:UnspecifiedMatching -OMIM:612464 ARRDC3 skos:exactMatch hgnc:ARRDC3 semapv:UnspecifiedMatching +OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:29263 semapv:UnspecifiedMatching +OMIM:612464 ARRDC3 skos:exactMatch hgnc.symbol:ARRDC3 semapv:UnspecifiedMatching OMIM:612464 ARRDC3 skos:exactMatch ncbigene:57561 semapv:UnspecifiedMatching OMIM:612465 TBC1D4 skos:exactMatch UMLS:C1426056 semapv:UnspecifiedMatching OMIM:612465 TBC1D4 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:612465 TBC1D4 skos:exactMatch UMLS:C5436964 semapv:UnspecifiedMatching -OMIM:612465 TBC1D4 skos:exactMatch hgnc:TBC1D4 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:19165 semapv:UnspecifiedMatching +OMIM:612465 TBC1D4 skos:exactMatch hgnc.symbol:TBC1D4 semapv:UnspecifiedMatching OMIM:612465 TBC1D4 skos:exactMatch ncbigene:9882 semapv:UnspecifiedMatching -OMIM:612466 GBP4 skos:exactMatch hgnc:GBP4 semapv:UnspecifiedMatching +OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:20480 semapv:UnspecifiedMatching +OMIM:612466 GBP4 skos:exactMatch hgnc.symbol:GBP4 semapv:UnspecifiedMatching OMIM:612466 GBP4 skos:exactMatch ncbigene:115361 semapv:UnspecifiedMatching -OMIM:612467 GBP6 skos:exactMatch hgnc:GBP6 semapv:UnspecifiedMatching +OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:25395 semapv:UnspecifiedMatching +OMIM:612467 GBP6 skos:exactMatch hgnc.symbol:GBP6 semapv:UnspecifiedMatching OMIM:612467 GBP6 skos:exactMatch ncbigene:163351 semapv:UnspecifiedMatching -OMIM:612468 GBP7 skos:exactMatch hgnc:GBP7 semapv:UnspecifiedMatching +OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:29606 semapv:UnspecifiedMatching +OMIM:612468 GBP7 skos:exactMatch hgnc.symbol:GBP7 semapv:UnspecifiedMatching OMIM:612468 GBP7 skos:exactMatch ncbigene:388646 semapv:UnspecifiedMatching -OMIM:612470 BATF3 skos:exactMatch hgnc:BATF3 semapv:UnspecifiedMatching +OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:28915 semapv:UnspecifiedMatching +OMIM:612470 BATF3 skos:exactMatch hgnc.symbol:BATF3 semapv:UnspecifiedMatching OMIM:612470 BATF3 skos:exactMatch ncbigene:55509 semapv:UnspecifiedMatching -OMIM:612471 AGXT2 skos:exactMatch hgnc:AGXT2 semapv:UnspecifiedMatching +OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:14412 semapv:UnspecifiedMatching +OMIM:612471 AGXT2 skos:exactMatch hgnc.symbol:AGXT2 semapv:UnspecifiedMatching OMIM:612471 AGXT2 skos:exactMatch ncbigene:64902 semapv:UnspecifiedMatching OMIM:612472 METTL3 skos:exactMatch UMLS:C1424999 semapv:UnspecifiedMatching -OMIM:612472 METTL3 skos:exactMatch hgnc:METTL3 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:17563 semapv:UnspecifiedMatching +OMIM:612472 METTL3 skos:exactMatch hgnc.symbol:METTL3 semapv:UnspecifiedMatching OMIM:612472 METTL3 skos:exactMatch ncbigene:56339 semapv:UnspecifiedMatching -OMIM:612473 PEBP4 skos:exactMatch hgnc:PEBP4 semapv:UnspecifiedMatching +OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:28319 semapv:UnspecifiedMatching +OMIM:612473 PEBP4 skos:exactMatch hgnc.symbol:PEBP4 semapv:UnspecifiedMatching OMIM:612473 PEBP4 skos:exactMatch ncbigene:157310 semapv:UnspecifiedMatching -OMIM:612476 BATF skos:exactMatch hgnc:BATF semapv:UnspecifiedMatching +OMIM:612476 BATF skos:exactMatch hgnc.symbol:958 semapv:UnspecifiedMatching +OMIM:612476 BATF skos:exactMatch hgnc.symbol:BATF semapv:UnspecifiedMatching OMIM:612476 BATF skos:exactMatch ncbigene:10538 semapv:UnspecifiedMatching -OMIM:612477 IQCG skos:exactMatch hgnc:IQCG semapv:UnspecifiedMatching +OMIM:612477 IQCG skos:exactMatch hgnc.symbol:25251 semapv:UnspecifiedMatching +OMIM:612477 IQCG skos:exactMatch hgnc.symbol:IQCG semapv:UnspecifiedMatching OMIM:612477 IQCG skos:exactMatch ncbigene:84223 semapv:UnspecifiedMatching -OMIM:612478 NECAB3 skos:exactMatch hgnc:NECAB3 semapv:UnspecifiedMatching +OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:15851 semapv:UnspecifiedMatching +OMIM:612478 NECAB3 skos:exactMatch hgnc.symbol:NECAB3 semapv:UnspecifiedMatching OMIM:612478 NECAB3 skos:exactMatch ncbigene:63941 semapv:UnspecifiedMatching -OMIM:612480 TIPARP skos:exactMatch hgnc:TIPARP semapv:UnspecifiedMatching +OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:23696 semapv:UnspecifiedMatching +OMIM:612480 TIPARP skos:exactMatch hgnc.symbol:TIPARP semapv:UnspecifiedMatching OMIM:612480 TIPARP skos:exactMatch ncbigene:25976 semapv:UnspecifiedMatching -OMIM:612481 PARP12 skos:exactMatch hgnc:PARP12 semapv:UnspecifiedMatching +OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:21919 semapv:UnspecifiedMatching +OMIM:612481 PARP12 skos:exactMatch hgnc.symbol:PARP12 semapv:UnspecifiedMatching OMIM:612481 PARP12 skos:exactMatch ncbigene:64761 semapv:UnspecifiedMatching -OMIM:612482 RNF43 skos:exactMatch hgnc:RNF43 semapv:UnspecifiedMatching +OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:18505 semapv:UnspecifiedMatching +OMIM:612482 RNF43 skos:exactMatch hgnc.symbol:RNF43 semapv:UnspecifiedMatching OMIM:612482 RNF43 skos:exactMatch ncbigene:54894 semapv:UnspecifiedMatching -OMIM:612483 FAT3 skos:exactMatch hgnc:FAT3 semapv:UnspecifiedMatching +OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:23112 semapv:UnspecifiedMatching +OMIM:612483 FAT3 skos:exactMatch hgnc.symbol:FAT3 semapv:UnspecifiedMatching OMIM:612483 FAT3 skos:exactMatch ncbigene:120114 semapv:UnspecifiedMatching -OMIM:612484 RNASE7 skos:exactMatch hgnc:RNASE7 semapv:UnspecifiedMatching +OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:19278 semapv:UnspecifiedMatching +OMIM:612484 RNASE7 skos:exactMatch hgnc.symbol:RNASE7 semapv:UnspecifiedMatching OMIM:612484 RNASE7 skos:exactMatch ncbigene:84659 semapv:UnspecifiedMatching -OMIM:612485 RNASE8 skos:exactMatch hgnc:RNASE8 semapv:UnspecifiedMatching +OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:19277 semapv:UnspecifiedMatching +OMIM:612485 RNASE8 skos:exactMatch hgnc.symbol:RNASE8 semapv:UnspecifiedMatching OMIM:612485 RNASE8 skos:exactMatch ncbigene:122665 semapv:UnspecifiedMatching -OMIM:612486 DCHS2 skos:exactMatch hgnc:DCHS2 semapv:UnspecifiedMatching +OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:23111 semapv:UnspecifiedMatching +OMIM:612486 DCHS2 skos:exactMatch hgnc.symbol:DCHS2 semapv:UnspecifiedMatching OMIM:612486 DCHS2 skos:exactMatch ncbigene:54798 semapv:UnspecifiedMatching -OMIM:612487 RNF31 skos:exactMatch hgnc:RNF31 semapv:UnspecifiedMatching +OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:16031 semapv:UnspecifiedMatching +OMIM:612487 RNF31 skos:exactMatch hgnc.symbol:RNF31 semapv:UnspecifiedMatching OMIM:612487 RNF31 skos:exactMatch ncbigene:55072 semapv:UnspecifiedMatching -OMIM:612488 RNF38 skos:exactMatch hgnc:RNF38 semapv:UnspecifiedMatching +OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:18052 semapv:UnspecifiedMatching +OMIM:612488 RNF38 skos:exactMatch hgnc.symbol:RNF38 semapv:UnspecifiedMatching OMIM:612488 RNF38 skos:exactMatch ncbigene:152006 semapv:UnspecifiedMatching -OMIM:612489 RNF24 skos:exactMatch hgnc:RNF24 semapv:UnspecifiedMatching +OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:13779 semapv:UnspecifiedMatching +OMIM:612489 RNF24 skos:exactMatch hgnc.symbol:RNF24 semapv:UnspecifiedMatching OMIM:612489 RNF24 skos:exactMatch ncbigene:11237 semapv:UnspecifiedMatching -OMIM:612490 RNF181 skos:exactMatch hgnc:RNF181 semapv:UnspecifiedMatching +OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:28037 semapv:UnspecifiedMatching +OMIM:612490 RNF181 skos:exactMatch hgnc.symbol:RNF181 semapv:UnspecifiedMatching OMIM:612490 RNF181 skos:exactMatch ncbigene:51255 semapv:UnspecifiedMatching -OMIM:612491 APIP skos:exactMatch hgnc:APIP semapv:UnspecifiedMatching +OMIM:612491 APIP skos:exactMatch hgnc.symbol:17581 semapv:UnspecifiedMatching +OMIM:612491 APIP skos:exactMatch hgnc.symbol:APIP semapv:UnspecifiedMatching OMIM:612491 APIP skos:exactMatch ncbigene:51074 semapv:UnspecifiedMatching -OMIM:612492 USP30 skos:exactMatch hgnc:USP30 semapv:UnspecifiedMatching +OMIM:612492 USP30 skos:exactMatch hgnc.symbol:20065 semapv:UnspecifiedMatching +OMIM:612492 USP30 skos:exactMatch hgnc.symbol:USP30 semapv:UnspecifiedMatching OMIM:612492 USP30 skos:exactMatch ncbigene:84749 semapv:UnspecifiedMatching -OMIM:612493 CNPY1 skos:exactMatch hgnc:CNPY1 semapv:UnspecifiedMatching +OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:27786 semapv:UnspecifiedMatching +OMIM:612493 CNPY1 skos:exactMatch hgnc.symbol:CNPY1 semapv:UnspecifiedMatching OMIM:612493 CNPY1 skos:exactMatch ncbigene:285888 semapv:UnspecifiedMatching -OMIM:612494 ARHGEF10L skos:exactMatch hgnc:ARHGEF10L semapv:UnspecifiedMatching +OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:25540 semapv:UnspecifiedMatching +OMIM:612494 ARHGEF10L skos:exactMatch hgnc.symbol:ARHGEF10L semapv:UnspecifiedMatching OMIM:612494 ARHGEF10L skos:exactMatch ncbigene:55160 semapv:UnspecifiedMatching -OMIM:612495 UBE3D skos:exactMatch hgnc:UBE3D semapv:UnspecifiedMatching +OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:21381 semapv:UnspecifiedMatching +OMIM:612495 UBE3D skos:exactMatch hgnc.symbol:UBE3D semapv:UnspecifiedMatching OMIM:612495 UBE3D skos:exactMatch ncbigene:90025 semapv:UnspecifiedMatching -OMIM:612496 ARHGEF19 skos:exactMatch hgnc:ARHGEF19 semapv:UnspecifiedMatching +OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:26604 semapv:UnspecifiedMatching +OMIM:612496 ARHGEF19 skos:exactMatch hgnc.symbol:ARHGEF19 semapv:UnspecifiedMatching OMIM:612496 ARHGEF19 skos:exactMatch ncbigene:128272 semapv:UnspecifiedMatching -OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc:NSA2 semapv:UnspecifiedMatching +OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:30728 semapv:UnspecifiedMatching +OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch hgnc.symbol:NSA2 semapv:UnspecifiedMatching OMIM:612497 transforming growth factor-beta-inducible nuclear protein 1 skos:exactMatch ncbigene:10412 semapv:UnspecifiedMatching OMIM:612498 ADSS1 skos:exactMatch UMLS:C1426678 semapv:UnspecifiedMatching OMIM:612498 ADSS1 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching -OMIM:612498 ADSS1 skos:exactMatch hgnc:ADSS1 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:20093 semapv:UnspecifiedMatching +OMIM:612498 ADSS1 skos:exactMatch hgnc.symbol:ADSS1 semapv:UnspecifiedMatching OMIM:612498 ADSS1 skos:exactMatch ncbigene:122622 semapv:UnspecifiedMatching -OMIM:612499 DIMT1 skos:exactMatch hgnc:DIMT1 semapv:UnspecifiedMatching +OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:30217 semapv:UnspecifiedMatching +OMIM:612499 DIMT1 skos:exactMatch hgnc.symbol:DIMT1 semapv:UnspecifiedMatching OMIM:612499 DIMT1 skos:exactMatch ncbigene:27292 semapv:UnspecifiedMatching OMIM:612500 DDX52 skos:exactMatch UMLS:C1426628 semapv:UnspecifiedMatching -OMIM:612500 DDX52 skos:exactMatch hgnc:DDX52 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:20038 semapv:UnspecifiedMatching +OMIM:612500 DDX52 skos:exactMatch hgnc.symbol:DDX52 semapv:UnspecifiedMatching OMIM:612500 DDX52 skos:exactMatch ncbigene:11056 semapv:UnspecifiedMatching -OMIM:612501 UBE2Q2 skos:exactMatch hgnc:UBE2Q2 semapv:UnspecifiedMatching +OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:19248 semapv:UnspecifiedMatching +OMIM:612501 UBE2Q2 skos:exactMatch hgnc.symbol:UBE2Q2 semapv:UnspecifiedMatching OMIM:612501 UBE2Q2 skos:exactMatch ncbigene:92912 semapv:UnspecifiedMatching -OMIM:612502 COLEC11 skos:exactMatch hgnc:COLEC11 semapv:UnspecifiedMatching +OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:17213 semapv:UnspecifiedMatching +OMIM:612502 COLEC11 skos:exactMatch hgnc.symbol:COLEC11 semapv:UnspecifiedMatching OMIM:612502 COLEC11 skos:exactMatch ncbigene:78989 semapv:UnspecifiedMatching -OMIM:612503 ABCA5 skos:exactMatch hgnc:ABCA5 semapv:UnspecifiedMatching +OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:35 semapv:UnspecifiedMatching +OMIM:612503 ABCA5 skos:exactMatch hgnc.symbol:ABCA5 semapv:UnspecifiedMatching OMIM:612503 ABCA5 skos:exactMatch ncbigene:23461 semapv:UnspecifiedMatching -OMIM:612504 ABCA6 skos:exactMatch hgnc:ABCA6 semapv:UnspecifiedMatching +OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:36 semapv:UnspecifiedMatching +OMIM:612504 ABCA6 skos:exactMatch hgnc.symbol:ABCA6 semapv:UnspecifiedMatching OMIM:612504 ABCA6 skos:exactMatch ncbigene:23460 semapv:UnspecifiedMatching -OMIM:612505 ABCA8 skos:exactMatch hgnc:ABCA8 semapv:UnspecifiedMatching +OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:38 semapv:UnspecifiedMatching +OMIM:612505 ABCA8 skos:exactMatch hgnc.symbol:ABCA8 semapv:UnspecifiedMatching OMIM:612505 ABCA8 skos:exactMatch ncbigene:10351 semapv:UnspecifiedMatching -OMIM:612506 UBE2R2 skos:exactMatch hgnc:UBE2R2 semapv:UnspecifiedMatching +OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:19907 semapv:UnspecifiedMatching +OMIM:612506 UBE2R2 skos:exactMatch hgnc.symbol:UBE2R2 semapv:UnspecifiedMatching OMIM:612506 UBE2R2 skos:exactMatch ncbigene:54926 semapv:UnspecifiedMatching -OMIM:612507 ABCA9 skos:exactMatch hgnc:ABCA9 semapv:UnspecifiedMatching +OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:39 semapv:UnspecifiedMatching +OMIM:612507 ABCA9 skos:exactMatch hgnc.symbol:ABCA9 semapv:UnspecifiedMatching OMIM:612507 ABCA9 skos:exactMatch ncbigene:10350 semapv:UnspecifiedMatching -OMIM:612508 ABCA10 skos:exactMatch hgnc:ABCA10 semapv:UnspecifiedMatching +OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:30 semapv:UnspecifiedMatching +OMIM:612508 ABCA10 skos:exactMatch hgnc.symbol:ABCA10 semapv:UnspecifiedMatching OMIM:612508 ABCA10 skos:exactMatch ncbigene:10349 semapv:UnspecifiedMatching -OMIM:612509 ABCC10 skos:exactMatch hgnc:ABCC10 semapv:UnspecifiedMatching +OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:52 semapv:UnspecifiedMatching +OMIM:612509 ABCC10 skos:exactMatch hgnc.symbol:ABCC10 semapv:UnspecifiedMatching OMIM:612509 ABCC10 skos:exactMatch ncbigene:89845 semapv:UnspecifiedMatching -OMIM:612510 ABCF2 skos:exactMatch hgnc:ABCF2 semapv:UnspecifiedMatching +OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:71 semapv:UnspecifiedMatching +OMIM:612510 ABCF2 skos:exactMatch hgnc.symbol:ABCF2 semapv:UnspecifiedMatching OMIM:612510 ABCF2 skos:exactMatch ncbigene:10061 semapv:UnspecifiedMatching -OMIM:612511 MIRN101-1 skos:exactMatch hgnc:MIR101-1 semapv:UnspecifiedMatching +OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:31488 semapv:UnspecifiedMatching +OMIM:612511 MIRN101-1 skos:exactMatch hgnc.symbol:MIR101-1 semapv:UnspecifiedMatching OMIM:612511 MIRN101-1 skos:exactMatch ncbigene:406893 semapv:UnspecifiedMatching -OMIM:612512 MIRN101-2 skos:exactMatch hgnc:MIR101-2 semapv:UnspecifiedMatching +OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:31489 semapv:UnspecifiedMatching +OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:MIR101-2 semapv:UnspecifiedMatching OMIM:612512 MIRN101-2 skos:exactMatch ncbigene:406894 semapv:UnspecifiedMatching -OMIM:612515 DCAF17 skos:exactMatch hgnc:DCAF17 semapv:UnspecifiedMatching +OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:25784 semapv:UnspecifiedMatching +OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:DCAF17 semapv:UnspecifiedMatching OMIM:612515 DCAF17 skos:exactMatch ncbigene:80067 semapv:UnspecifiedMatching -OMIM:612516 UACA skos:exactMatch hgnc:UACA semapv:UnspecifiedMatching +OMIM:612516 UACA skos:exactMatch hgnc.symbol:15947 semapv:UnspecifiedMatching +OMIM:612516 UACA skos:exactMatch hgnc.symbol:UACA semapv:UnspecifiedMatching OMIM:612516 UACA skos:exactMatch ncbigene:55075 semapv:UnspecifiedMatching -OMIM:612517 DNAAF2 skos:exactMatch hgnc:DNAAF2 semapv:UnspecifiedMatching +OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:20188 semapv:UnspecifiedMatching +OMIM:612517 DNAAF2 skos:exactMatch hgnc.symbol:DNAAF2 semapv:UnspecifiedMatching OMIM:612517 DNAAF2 skos:exactMatch ncbigene:55172 semapv:UnspecifiedMatching -OMIM:612519 SLC35D3 skos:exactMatch hgnc:SLC35D3 semapv:UnspecifiedMatching +OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:15621 semapv:UnspecifiedMatching +OMIM:612519 SLC35D3 skos:exactMatch hgnc.symbol:SLC35D3 semapv:UnspecifiedMatching OMIM:612519 SLC35D3 skos:exactMatch ncbigene:340146 semapv:UnspecifiedMatching OMIM:612520 iia 1 diabetes mellitus 20 skos:exactMatch UMLS:C2675866 semapv:UnspecifiedMatching OMIM:612521 iia 1 diabetes mellitus 21 skos:exactMatch UMLS:C2675865 semapv:UnspecifiedMatching OMIM:612522 iia 1 diabetes mellitus 22 skos:exactMatch UMLS:C2675864 semapv:UnspecifiedMatching -OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc:IQCH semapv:UnspecifiedMatching +OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:25721 semapv:UnspecifiedMatching +OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch hgnc.symbol:IQCH semapv:UnspecifiedMatching OMIM:612523 iq motif-containing protein h: iqch skos:exactMatch ncbigene:64799 semapv:UnspecifiedMatching -OMIM:612524 RPP21 skos:exactMatch hgnc:RPP21 semapv:UnspecifiedMatching +OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:21300 semapv:UnspecifiedMatching +OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:RPP21 semapv:UnspecifiedMatching OMIM:612524 RPP21 skos:exactMatch ncbigene:79897 semapv:UnspecifiedMatching -OMIM:612531 THAP2 skos:exactMatch hgnc:THAP2 semapv:UnspecifiedMatching +OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:20854 semapv:UnspecifiedMatching +OMIM:612531 THAP2 skos:exactMatch hgnc.symbol:THAP2 semapv:UnspecifiedMatching OMIM:612531 THAP2 skos:exactMatch ncbigene:83591 semapv:UnspecifiedMatching -OMIM:612532 THAP3 skos:exactMatch hgnc:THAP3 semapv:UnspecifiedMatching +OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:20855 semapv:UnspecifiedMatching +OMIM:612532 THAP3 skos:exactMatch hgnc.symbol:THAP3 semapv:UnspecifiedMatching OMIM:612532 THAP3 skos:exactMatch ncbigene:90326 semapv:UnspecifiedMatching -OMIM:612533 THAP4 skos:exactMatch hgnc:THAP4 semapv:UnspecifiedMatching +OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:23187 semapv:UnspecifiedMatching +OMIM:612533 THAP4 skos:exactMatch hgnc.symbol:THAP4 semapv:UnspecifiedMatching OMIM:612533 THAP4 skos:exactMatch ncbigene:51078 semapv:UnspecifiedMatching -OMIM:612534 THAP5 skos:exactMatch hgnc:THAP5 semapv:UnspecifiedMatching +OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:23188 semapv:UnspecifiedMatching +OMIM:612534 THAP5 skos:exactMatch hgnc.symbol:THAP5 semapv:UnspecifiedMatching OMIM:612534 THAP5 skos:exactMatch ncbigene:168451 semapv:UnspecifiedMatching -OMIM:612535 THAP6 skos:exactMatch hgnc:THAP6 semapv:UnspecifiedMatching +OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:23189 semapv:UnspecifiedMatching +OMIM:612535 THAP6 skos:exactMatch hgnc.symbol:THAP6 semapv:UnspecifiedMatching OMIM:612535 THAP6 skos:exactMatch ncbigene:152815 semapv:UnspecifiedMatching -OMIM:612536 THAP8 skos:exactMatch hgnc:THAP8 semapv:UnspecifiedMatching +OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:23191 semapv:UnspecifiedMatching +OMIM:612536 THAP8 skos:exactMatch hgnc.symbol:THAP8 semapv:UnspecifiedMatching OMIM:612536 THAP8 skos:exactMatch ncbigene:199745 semapv:UnspecifiedMatching -OMIM:612537 THAP9 skos:exactMatch hgnc:THAP9 semapv:UnspecifiedMatching +OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:23192 semapv:UnspecifiedMatching +OMIM:612537 THAP9 skos:exactMatch hgnc.symbol:THAP9 semapv:UnspecifiedMatching OMIM:612537 THAP9 skos:exactMatch ncbigene:79725 semapv:UnspecifiedMatching -OMIM:612538 THAP10 skos:exactMatch hgnc:THAP10 semapv:UnspecifiedMatching +OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:23193 semapv:UnspecifiedMatching +OMIM:612538 THAP10 skos:exactMatch hgnc.symbol:THAP10 semapv:UnspecifiedMatching OMIM:612538 THAP10 skos:exactMatch ncbigene:56906 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:178503 semapv:UnspecifiedMatching +OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch Orphanet:331176 semapv:UnspecifiedMatching OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch UMLS:C2675526 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch orphanet.ordo:178503 semapv:UnspecifiedMatching -OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive skos:exactMatch orphanet.ordo:331176 semapv:UnspecifiedMatching -OMIM:612543 USP36 skos:exactMatch hgnc:USP36 semapv:UnspecifiedMatching +OMIM:612543 USP36 skos:exactMatch hgnc.symbol:20062 semapv:UnspecifiedMatching +OMIM:612543 USP36 skos:exactMatch hgnc.symbol:USP36 semapv:UnspecifiedMatching OMIM:612543 USP36 skos:exactMatch ncbigene:57602 semapv:UnspecifiedMatching -OMIM:612544 ABLIM2 skos:exactMatch hgnc:ABLIM2 semapv:UnspecifiedMatching +OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:19195 semapv:UnspecifiedMatching +OMIM:612544 ABLIM2 skos:exactMatch hgnc.symbol:ABLIM2 semapv:UnspecifiedMatching OMIM:612544 ABLIM2 skos:exactMatch ncbigene:84448 semapv:UnspecifiedMatching -OMIM:612545 WBSCR26 skos:exactMatch hgnc:ABHD11-AS1 semapv:UnspecifiedMatching +OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:18289 semapv:UnspecifiedMatching +OMIM:612545 WBSCR26 skos:exactMatch hgnc.symbol:ABHD11-AS1 semapv:UnspecifiedMatching OMIM:612545 WBSCR26 skos:exactMatch ncbigene:171022 semapv:UnspecifiedMatching -OMIM:612546 METTL27 skos:exactMatch hgnc:METTL27 semapv:UnspecifiedMatching +OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:19068 semapv:UnspecifiedMatching +OMIM:612546 METTL27 skos:exactMatch hgnc.symbol:METTL27 semapv:UnspecifiedMatching OMIM:612546 METTL27 skos:exactMatch ncbigene:155368 semapv:UnspecifiedMatching -OMIM:612547 TMEM270 skos:exactMatch hgnc:TMEM270 semapv:UnspecifiedMatching +OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:23018 semapv:UnspecifiedMatching +OMIM:612547 TMEM270 skos:exactMatch hgnc.symbol:TMEM270 semapv:UnspecifiedMatching OMIM:612547 TMEM270 skos:exactMatch ncbigene:135886 semapv:UnspecifiedMatching -OMIM:612548 TRIM50 skos:exactMatch hgnc:TRIM50 semapv:UnspecifiedMatching +OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:19017 semapv:UnspecifiedMatching +OMIM:612548 TRIM50 skos:exactMatch hgnc.symbol:TRIM50 semapv:UnspecifiedMatching OMIM:612548 TRIM50 skos:exactMatch ncbigene:135892 semapv:UnspecifiedMatching -OMIM:612549 TRIM73 skos:exactMatch hgnc:TRIM73 semapv:UnspecifiedMatching +OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:18162 semapv:UnspecifiedMatching +OMIM:612549 TRIM73 skos:exactMatch hgnc.symbol:TRIM73 semapv:UnspecifiedMatching OMIM:612549 TRIM73 skos:exactMatch ncbigene:375593 semapv:UnspecifiedMatching -OMIM:612550 TRIM74 skos:exactMatch hgnc:TRIM74 semapv:UnspecifiedMatching +OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:17453 semapv:UnspecifiedMatching +OMIM:612550 TRIM74 skos:exactMatch hgnc.symbol:TRIM74 semapv:UnspecifiedMatching OMIM:612550 TRIM74 skos:exactMatch ncbigene:378108 semapv:UnspecifiedMatching -OMIM:612552 ZBED4 skos:exactMatch hgnc:ZBED4 semapv:UnspecifiedMatching +OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:20721 semapv:UnspecifiedMatching +OMIM:612552 ZBED4 skos:exactMatch hgnc.symbol:ZBED4 semapv:UnspecifiedMatching OMIM:612552 ZBED4 skos:exactMatch ncbigene:9889 semapv:UnspecifiedMatching -OMIM:612553 MIR370 skos:exactMatch hgnc:MIR370 semapv:UnspecifiedMatching +OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:31784 semapv:UnspecifiedMatching +OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:MIR370 semapv:UnspecifiedMatching OMIM:612553 MIR370 skos:exactMatch ncbigene:442915 semapv:UnspecifiedMatching -OMIM:612564 TXNDC9 skos:exactMatch hgnc:TXNDC9 semapv:UnspecifiedMatching +OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:24110 semapv:UnspecifiedMatching +OMIM:612564 TXNDC9 skos:exactMatch hgnc.symbol:TXNDC9 semapv:UnspecifiedMatching OMIM:612564 TXNDC9 skos:exactMatch ncbigene:10190 semapv:UnspecifiedMatching -OMIM:612565 RAB1B skos:exactMatch hgnc:RAB1B semapv:UnspecifiedMatching +OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:18370 semapv:UnspecifiedMatching +OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:RAB1B semapv:UnspecifiedMatching OMIM:612565 RAB1B skos:exactMatch ncbigene:81876 semapv:UnspecifiedMatching -OMIM:612568 SPIC skos:exactMatch hgnc:SPIC semapv:UnspecifiedMatching +OMIM:612568 SPIC skos:exactMatch hgnc.symbol:29549 semapv:UnspecifiedMatching +OMIM:612568 SPIC skos:exactMatch hgnc.symbol:SPIC semapv:UnspecifiedMatching OMIM:612568 SPIC skos:exactMatch ncbigene:121599 semapv:UnspecifiedMatching -OMIM:612569 CCAR1 skos:exactMatch hgnc:CCAR1 semapv:UnspecifiedMatching +OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:24236 semapv:UnspecifiedMatching +OMIM:612569 CCAR1 skos:exactMatch hgnc.symbol:CCAR1 semapv:UnspecifiedMatching OMIM:612569 CCAR1 skos:exactMatch ncbigene:55749 semapv:UnspecifiedMatching -OMIM:612570 FBN2 skos:exactMatch hgnc:FBN2 semapv:UnspecifiedMatching +OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:3604 semapv:UnspecifiedMatching +OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:FBN2 semapv:UnspecifiedMatching OMIM:612570 FBN2 skos:exactMatch ncbigene:2201 semapv:UnspecifiedMatching +OMIM:612572 retinitis pigmentosa 46 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:612572 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching -OMIM:612572 retinitis pigmentosa 46 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching -OMIM:612583 SPNS1 skos:exactMatch hgnc:SPNS1 semapv:UnspecifiedMatching +OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:30621 semapv:UnspecifiedMatching +OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:SPNS1 semapv:UnspecifiedMatching OMIM:612583 SPNS1 skos:exactMatch ncbigene:83985 semapv:UnspecifiedMatching -OMIM:612584 SPNS2 skos:exactMatch hgnc:SPNS2 semapv:UnspecifiedMatching +OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:26992 semapv:UnspecifiedMatching +OMIM:612584 SPNS2 skos:exactMatch hgnc.symbol:SPNS2 semapv:UnspecifiedMatching OMIM:612584 SPNS2 skos:exactMatch ncbigene:124976 semapv:UnspecifiedMatching -OMIM:612585 CLPTM1L skos:exactMatch hgnc:CLPTM1L semapv:UnspecifiedMatching +OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:24308 semapv:UnspecifiedMatching +OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:CLPTM1L semapv:UnspecifiedMatching OMIM:612585 CLPTM1L skos:exactMatch ncbigene:81037 semapv:UnspecifiedMatching -OMIM:612588 BCLAF1 skos:exactMatch hgnc:BCLAF1 semapv:UnspecifiedMatching +OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:16863 semapv:UnspecifiedMatching +OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:BCLAF1 semapv:UnspecifiedMatching OMIM:612588 BCLAF1 skos:exactMatch ncbigene:9774 semapv:UnspecifiedMatching OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch UMLS:C2675477 semapv:UnspecifiedMatching -OMIM:612597 CRTAM skos:exactMatch hgnc:CRTAM semapv:UnspecifiedMatching +OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:24313 semapv:UnspecifiedMatching +OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:CRTAM semapv:UnspecifiedMatching OMIM:612597 CRTAM skos:exactMatch ncbigene:56253 semapv:UnspecifiedMatching -OMIM:612598 RNF11 skos:exactMatch hgnc:RNF11 semapv:UnspecifiedMatching +OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:10056 semapv:UnspecifiedMatching +OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:RNF11 semapv:UnspecifiedMatching OMIM:612598 RNF11 skos:exactMatch ncbigene:26994 semapv:UnspecifiedMatching -OMIM:612600 RNMTL1 skos:exactMatch hgnc:MRM3 semapv:UnspecifiedMatching +OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:18485 semapv:UnspecifiedMatching +OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:MRM3 semapv:UnspecifiedMatching OMIM:612600 RNMTL1 skos:exactMatch ncbigene:55178 semapv:UnspecifiedMatching -OMIM:612601 RFPL4A skos:exactMatch hgnc:RFPL4A semapv:UnspecifiedMatching +OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:16449 semapv:UnspecifiedMatching +OMIM:612601 RFPL4A skos:exactMatch hgnc.symbol:RFPL4A semapv:UnspecifiedMatching OMIM:612601 RFPL4A skos:exactMatch ncbigene:342931 semapv:UnspecifiedMatching -OMIM:612602 RBM15B skos:exactMatch hgnc:RBM15B semapv:UnspecifiedMatching +OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:24303 semapv:UnspecifiedMatching +OMIM:612602 RBM15B skos:exactMatch hgnc.symbol:RBM15B semapv:UnspecifiedMatching OMIM:612602 RBM15B skos:exactMatch ncbigene:29890 semapv:UnspecifiedMatching -OMIM:612603 LCE1A skos:exactMatch hgnc:LCE1A semapv:UnspecifiedMatching +OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:29459 semapv:UnspecifiedMatching +OMIM:612603 LCE1A skos:exactMatch hgnc.symbol:LCE1A semapv:UnspecifiedMatching OMIM:612603 LCE1A skos:exactMatch ncbigene:353131 semapv:UnspecifiedMatching -OMIM:612604 LCE1B skos:exactMatch hgnc:LCE1B semapv:UnspecifiedMatching +OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:16611 semapv:UnspecifiedMatching +OMIM:612604 LCE1B skos:exactMatch hgnc.symbol:LCE1B semapv:UnspecifiedMatching OMIM:612604 LCE1B skos:exactMatch ncbigene:353132 semapv:UnspecifiedMatching -OMIM:612605 LCE1C skos:exactMatch hgnc:LCE1C semapv:UnspecifiedMatching +OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:29464 semapv:UnspecifiedMatching +OMIM:612605 LCE1C skos:exactMatch hgnc.symbol:LCE1C semapv:UnspecifiedMatching OMIM:612605 LCE1C skos:exactMatch ncbigene:353133 semapv:UnspecifiedMatching -OMIM:612606 LCE1D skos:exactMatch hgnc:LCE1D semapv:UnspecifiedMatching +OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:29465 semapv:UnspecifiedMatching +OMIM:612606 LCE1D skos:exactMatch hgnc.symbol:LCE1D semapv:UnspecifiedMatching OMIM:612606 LCE1D skos:exactMatch ncbigene:353134 semapv:UnspecifiedMatching -OMIM:612607 LCE1E skos:exactMatch hgnc:LCE1E semapv:UnspecifiedMatching +OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:29466 semapv:UnspecifiedMatching +OMIM:612607 LCE1E skos:exactMatch hgnc.symbol:LCE1E semapv:UnspecifiedMatching OMIM:612607 LCE1E skos:exactMatch ncbigene:353135 semapv:UnspecifiedMatching -OMIM:612608 LCE1F skos:exactMatch hgnc:LCE1F semapv:UnspecifiedMatching +OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:29467 semapv:UnspecifiedMatching +OMIM:612608 LCE1F skos:exactMatch hgnc.symbol:LCE1F semapv:UnspecifiedMatching OMIM:612608 LCE1F skos:exactMatch ncbigene:353137 semapv:UnspecifiedMatching -OMIM:612609 LCE2A skos:exactMatch hgnc:LCE2A semapv:UnspecifiedMatching +OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:29469 semapv:UnspecifiedMatching +OMIM:612609 LCE2A skos:exactMatch hgnc.symbol:LCE2A semapv:UnspecifiedMatching OMIM:612609 LCE2A skos:exactMatch ncbigene:353139 semapv:UnspecifiedMatching -OMIM:612610 LCE2B skos:exactMatch hgnc:LCE2B semapv:UnspecifiedMatching +OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:16610 semapv:UnspecifiedMatching +OMIM:612610 LCE2B skos:exactMatch hgnc.symbol:LCE2B semapv:UnspecifiedMatching OMIM:612610 LCE2B skos:exactMatch ncbigene:26239 semapv:UnspecifiedMatching -OMIM:612611 LCE2C skos:exactMatch hgnc:LCE2C semapv:UnspecifiedMatching +OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:29460 semapv:UnspecifiedMatching +OMIM:612611 LCE2C skos:exactMatch hgnc.symbol:LCE2C semapv:UnspecifiedMatching OMIM:612611 LCE2C skos:exactMatch ncbigene:353140 semapv:UnspecifiedMatching -OMIM:612612 LCE2D skos:exactMatch hgnc:LCE2D semapv:UnspecifiedMatching +OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:16518 semapv:UnspecifiedMatching +OMIM:612612 LCE2D skos:exactMatch hgnc.symbol:LCE2D semapv:UnspecifiedMatching OMIM:612612 LCE2D skos:exactMatch ncbigene:353141 semapv:UnspecifiedMatching -OMIM:612613 LCE3A skos:exactMatch hgnc:LCE3A semapv:UnspecifiedMatching +OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:29461 semapv:UnspecifiedMatching +OMIM:612613 LCE3A skos:exactMatch hgnc.symbol:LCE3A semapv:UnspecifiedMatching OMIM:612613 LCE3A skos:exactMatch ncbigene:353142 semapv:UnspecifiedMatching -OMIM:612614 LCE3B skos:exactMatch hgnc:LCE3B semapv:UnspecifiedMatching +OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:29462 semapv:UnspecifiedMatching +OMIM:612614 LCE3B skos:exactMatch hgnc.symbol:LCE3B semapv:UnspecifiedMatching OMIM:612614 LCE3B skos:exactMatch ncbigene:353143 semapv:UnspecifiedMatching OMIM:612615 LCE3C skos:exactMatch UMLS:C1537542 semapv:UnspecifiedMatching -OMIM:612615 LCE3C skos:exactMatch hgnc:LCE3C semapv:UnspecifiedMatching +OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:16612 semapv:UnspecifiedMatching +OMIM:612615 LCE3C skos:exactMatch hgnc.symbol:LCE3C semapv:UnspecifiedMatching OMIM:612615 LCE3C skos:exactMatch ncbigene:353144 semapv:UnspecifiedMatching -OMIM:612616 LCE3D skos:exactMatch hgnc:LCE3D semapv:UnspecifiedMatching +OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:16615 semapv:UnspecifiedMatching +OMIM:612616 LCE3D skos:exactMatch hgnc.symbol:LCE3D semapv:UnspecifiedMatching OMIM:612616 LCE3D skos:exactMatch ncbigene:84648 semapv:UnspecifiedMatching -OMIM:612617 LCE3E skos:exactMatch hgnc:LCE3E semapv:UnspecifiedMatching +OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:29463 semapv:UnspecifiedMatching +OMIM:612617 LCE3E skos:exactMatch hgnc.symbol:LCE3E semapv:UnspecifiedMatching OMIM:612617 LCE3E skos:exactMatch ncbigene:353145 semapv:UnspecifiedMatching -OMIM:612618 LCE4A skos:exactMatch hgnc:LCE4A semapv:UnspecifiedMatching +OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:16613 semapv:UnspecifiedMatching +OMIM:612618 LCE4A skos:exactMatch hgnc.symbol:LCE4A semapv:UnspecifiedMatching OMIM:612618 LCE4A skos:exactMatch ncbigene:199834 semapv:UnspecifiedMatching -OMIM:612619 LCE5A skos:exactMatch hgnc:LCE5A semapv:UnspecifiedMatching +OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:16614 semapv:UnspecifiedMatching +OMIM:612619 LCE5A skos:exactMatch hgnc.symbol:LCE5A semapv:UnspecifiedMatching OMIM:612619 LCE5A skos:exactMatch ncbigene:254910 semapv:UnspecifiedMatching -OMIM:612620 RASSF6 skos:exactMatch hgnc:RASSF6 semapv:UnspecifiedMatching +OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:20796 semapv:UnspecifiedMatching +OMIM:612620 RASSF6 skos:exactMatch hgnc.symbol:RASSF6 semapv:UnspecifiedMatching OMIM:612620 RASSF6 skos:exactMatch ncbigene:166824 semapv:UnspecifiedMatching OMIM:612622 iia 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching -OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc:LMBRD1 semapv:UnspecifiedMatching +OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:23038 semapv:UnspecifiedMatching +OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:LMBRD1 semapv:UnspecifiedMatching OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch ncbigene:55788 semapv:UnspecifiedMatching -OMIM:612636 UNC80 skos:exactMatch hgnc:UNC80 semapv:UnspecifiedMatching +OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:26582 semapv:UnspecifiedMatching +OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:UNC80 semapv:UnspecifiedMatching OMIM:612636 UNC80 skos:exactMatch ncbigene:285175 semapv:UnspecifiedMatching -OMIM:612638 NDUFA11 skos:exactMatch hgnc:NDUFA11 semapv:UnspecifiedMatching +OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:20371 semapv:UnspecifiedMatching +OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:NDUFA11 semapv:UnspecifiedMatching OMIM:612638 NDUFA11 skos:exactMatch ncbigene:126328 semapv:UnspecifiedMatching -OMIM:612640 TBATA skos:exactMatch hgnc:TBATA semapv:UnspecifiedMatching +OMIM:612640 TBATA skos:exactMatch hgnc.symbol:23511 semapv:UnspecifiedMatching +OMIM:612640 TBATA skos:exactMatch hgnc.symbol:TBATA semapv:UnspecifiedMatching OMIM:612640 TBATA skos:exactMatch ncbigene:219793 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C1412402 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C4017274 semapv:UnspecifiedMatching @@ -32525,659 +45442,931 @@ OMIM:612641 ANK1 skos:exactMatch UMLS:C4017275 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C4017276 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C4017277 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch UMLS:C4017278 semapv:UnspecifiedMatching -OMIM:612641 ANK1 skos:exactMatch hgnc:ANK1 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:492 semapv:UnspecifiedMatching +OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:ANK1 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch ncbigene:286 semapv:UnspecifiedMatching -OMIM:612646 MACC1 skos:exactMatch hgnc:MACC1 semapv:UnspecifiedMatching +OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:30215 semapv:UnspecifiedMatching +OMIM:612646 MACC1 skos:exactMatch hgnc.symbol:MACC1 semapv:UnspecifiedMatching OMIM:612646 MACC1 skos:exactMatch ncbigene:346389 semapv:UnspecifiedMatching -OMIM:612647 RSPH4A skos:exactMatch hgnc:RSPH4A semapv:UnspecifiedMatching +OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:21558 semapv:UnspecifiedMatching +OMIM:612647 RSPH4A skos:exactMatch hgnc.symbol:RSPH4A semapv:UnspecifiedMatching OMIM:612647 RSPH4A skos:exactMatch ncbigene:345895 semapv:UnspecifiedMatching -OMIM:612648 RSPH9 skos:exactMatch hgnc:RSPH9 semapv:UnspecifiedMatching +OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:21057 semapv:UnspecifiedMatching +OMIM:612648 RSPH9 skos:exactMatch hgnc.symbol:RSPH9 semapv:UnspecifiedMatching OMIM:612648 RSPH9 skos:exactMatch ncbigene:221421 semapv:UnspecifiedMatching +OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch Orphanet:199332 semapv:UnspecifiedMatching OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch UMLS:C2675227 semapv:UnspecifiedMatching -OMIM:612651 endocrine-cerebroosteodysplasia skos:exactMatch orphanet.ordo:199332 semapv:UnspecifiedMatching -OMIM:612654 TCHP skos:exactMatch hgnc:TCHP semapv:UnspecifiedMatching +OMIM:612654 TCHP skos:exactMatch hgnc.symbol:28135 semapv:UnspecifiedMatching +OMIM:612654 TCHP skos:exactMatch hgnc.symbol:TCHP semapv:UnspecifiedMatching OMIM:612654 TCHP skos:exactMatch ncbigene:84260 semapv:UnspecifiedMatching -OMIM:612655 TBC1D7 skos:exactMatch hgnc:TBC1D7 semapv:UnspecifiedMatching +OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:21066 semapv:UnspecifiedMatching +OMIM:612655 TBC1D7 skos:exactMatch hgnc.symbol:TBC1D7 semapv:UnspecifiedMatching OMIM:612655 TBC1D7 skos:exactMatch ncbigene:51256 semapv:UnspecifiedMatching +OMIM:612657 cone-rod dystrophy 12 skos:exactMatch Orphanet:1872 semapv:UnspecifiedMatching OMIM:612657 cone-rod dystrophy 12 skos:exactMatch UMLS:C2675210 semapv:UnspecifiedMatching -OMIM:612657 cone-rod dystrophy 12 skos:exactMatch orphanet.ordo:1872 semapv:UnspecifiedMatching -OMIM:612658 TJAP1 skos:exactMatch hgnc:TJAP1 semapv:UnspecifiedMatching +OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:17949 semapv:UnspecifiedMatching +OMIM:612658 TJAP1 skos:exactMatch hgnc.symbol:TJAP1 semapv:UnspecifiedMatching OMIM:612658 TJAP1 skos:exactMatch ncbigene:93643 semapv:UnspecifiedMatching -OMIM:612659 RFX6 skos:exactMatch hgnc:RFX6 semapv:UnspecifiedMatching +OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:21478 semapv:UnspecifiedMatching +OMIM:612659 RFX6 skos:exactMatch hgnc.symbol:RFX6 semapv:UnspecifiedMatching OMIM:612659 RFX6 skos:exactMatch ncbigene:222546 semapv:UnspecifiedMatching -OMIM:612660 RFX7 skos:exactMatch hgnc:RFX7 semapv:UnspecifiedMatching +OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:25777 semapv:UnspecifiedMatching +OMIM:612660 RFX7 skos:exactMatch hgnc.symbol:RFX7 semapv:UnspecifiedMatching OMIM:612660 RFX7 skos:exactMatch ncbigene:64864 semapv:UnspecifiedMatching -OMIM:612661 WRAP53 skos:exactMatch hgnc:WRAP53 semapv:UnspecifiedMatching +OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:25522 semapv:UnspecifiedMatching +OMIM:612661 WRAP53 skos:exactMatch hgnc.symbol:WRAP53 semapv:UnspecifiedMatching OMIM:612661 WRAP53 skos:exactMatch ncbigene:55135 semapv:UnspecifiedMatching -OMIM:612662 TBC1D15 skos:exactMatch hgnc:TBC1D15 semapv:UnspecifiedMatching +OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:25694 semapv:UnspecifiedMatching +OMIM:612662 TBC1D15 skos:exactMatch hgnc.symbol:TBC1D15 semapv:UnspecifiedMatching OMIM:612662 TBC1D15 skos:exactMatch ncbigene:64786 semapv:UnspecifiedMatching -OMIM:612663 TIFAB skos:exactMatch hgnc:TIFAB semapv:UnspecifiedMatching +OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:34024 semapv:UnspecifiedMatching +OMIM:612663 TIFAB skos:exactMatch hgnc.symbol:TIFAB semapv:UnspecifiedMatching OMIM:612663 TIFAB skos:exactMatch ncbigene:497189 semapv:UnspecifiedMatching -OMIM:612664 RERG skos:exactMatch hgnc:RERG semapv:UnspecifiedMatching +OMIM:612664 RERG skos:exactMatch hgnc.symbol:15980 semapv:UnspecifiedMatching +OMIM:612664 RERG skos:exactMatch hgnc.symbol:RERG semapv:UnspecifiedMatching OMIM:612664 RERG skos:exactMatch ncbigene:85004 semapv:UnspecifiedMatching -OMIM:612665 TEX101 skos:exactMatch hgnc:TEX101 semapv:UnspecifiedMatching +OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:30722 semapv:UnspecifiedMatching +OMIM:612665 TEX101 skos:exactMatch hgnc.symbol:TEX101 semapv:UnspecifiedMatching OMIM:612665 TEX101 skos:exactMatch ncbigene:83639 semapv:UnspecifiedMatching -OMIM:612666 DSTYK skos:exactMatch hgnc:DSTYK semapv:UnspecifiedMatching +OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:29043 semapv:UnspecifiedMatching +OMIM:612666 DSTYK skos:exactMatch hgnc.symbol:DSTYK semapv:UnspecifiedMatching OMIM:612666 DSTYK skos:exactMatch ncbigene:25778 semapv:UnspecifiedMatching -OMIM:612667 HJURP skos:exactMatch hgnc:HJURP semapv:UnspecifiedMatching +OMIM:612667 HJURP skos:exactMatch hgnc.symbol:25444 semapv:UnspecifiedMatching +OMIM:612667 HJURP skos:exactMatch hgnc.symbol:HJURP semapv:UnspecifiedMatching OMIM:612667 HJURP skos:exactMatch ncbigene:55355 semapv:UnspecifiedMatching -OMIM:612668 TAS2R43 skos:exactMatch hgnc:TAS2R43 semapv:UnspecifiedMatching +OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:18875 semapv:UnspecifiedMatching +OMIM:612668 TAS2R43 skos:exactMatch hgnc.symbol:TAS2R43 semapv:UnspecifiedMatching OMIM:612668 TAS2R43 skos:exactMatch ncbigene:259289 semapv:UnspecifiedMatching -OMIM:612669 TAS2R31 skos:exactMatch hgnc:TAS2R31 semapv:UnspecifiedMatching +OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:19113 semapv:UnspecifiedMatching +OMIM:612669 TAS2R31 skos:exactMatch hgnc.symbol:TAS2R31 semapv:UnspecifiedMatching OMIM:612669 TAS2R31 skos:exactMatch ncbigene:259290 semapv:UnspecifiedMatching -OMIM:612672 RAB10 skos:exactMatch hgnc:RAB10 semapv:UnspecifiedMatching +OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:9759 semapv:UnspecifiedMatching +OMIM:612672 RAB10 skos:exactMatch hgnc.symbol:RAB10 semapv:UnspecifiedMatching OMIM:612672 RAB10 skos:exactMatch ncbigene:10890 semapv:UnspecifiedMatching -OMIM:612673 RAB14 skos:exactMatch hgnc:RAB14 semapv:UnspecifiedMatching +OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:16524 semapv:UnspecifiedMatching +OMIM:612673 RAB14 skos:exactMatch hgnc.symbol:RAB14 semapv:UnspecifiedMatching OMIM:612673 RAB14 skos:exactMatch ncbigene:51552 semapv:UnspecifiedMatching +OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch Orphanet:171848 semapv:UnspecifiedMatching OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching -OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract skos:exactMatch orphanet.ordo:171848 semapv:UnspecifiedMatching -OMIM:612675 SCARNA15 skos:exactMatch hgnc:SCARNA15 semapv:UnspecifiedMatching +OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:32572 semapv:UnspecifiedMatching +OMIM:612675 SCARNA15 skos:exactMatch hgnc.symbol:SCARNA15 semapv:UnspecifiedMatching OMIM:612675 SCARNA15 skos:exactMatch ncbigene:677778 semapv:UnspecifiedMatching -OMIM:612676 QDPR skos:exactMatch hgnc:QDPR semapv:UnspecifiedMatching +OMIM:612676 QDPR skos:exactMatch hgnc.symbol:9752 semapv:UnspecifiedMatching +OMIM:612676 QDPR skos:exactMatch hgnc.symbol:QDPR semapv:UnspecifiedMatching OMIM:612676 QDPR skos:exactMatch ncbigene:5860 semapv:UnspecifiedMatching -OMIM:612677 PYHIN1 skos:exactMatch hgnc:PYHIN1 semapv:UnspecifiedMatching +OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:28894 semapv:UnspecifiedMatching +OMIM:612677 PYHIN1 skos:exactMatch hgnc.symbol:PYHIN1 semapv:UnspecifiedMatching OMIM:612677 PYHIN1 skos:exactMatch ncbigene:149628 semapv:UnspecifiedMatching -OMIM:612678 CELF3 skos:exactMatch hgnc:CELF3 semapv:UnspecifiedMatching +OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:11967 semapv:UnspecifiedMatching +OMIM:612678 CELF3 skos:exactMatch hgnc.symbol:CELF3 semapv:UnspecifiedMatching OMIM:612678 CELF3 skos:exactMatch ncbigene:11189 semapv:UnspecifiedMatching -OMIM:612679 CELF4 skos:exactMatch hgnc:CELF4 semapv:UnspecifiedMatching +OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:14015 semapv:UnspecifiedMatching +OMIM:612679 CELF4 skos:exactMatch hgnc.symbol:CELF4 semapv:UnspecifiedMatching OMIM:612679 CELF4 skos:exactMatch ncbigene:56853 semapv:UnspecifiedMatching -OMIM:612680 CELF5 skos:exactMatch hgnc:CELF5 semapv:UnspecifiedMatching +OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:14058 semapv:UnspecifiedMatching +OMIM:612680 CELF5 skos:exactMatch hgnc.symbol:CELF5 semapv:UnspecifiedMatching OMIM:612680 CELF5 skos:exactMatch ncbigene:60680 semapv:UnspecifiedMatching -OMIM:612681 CELF6 skos:exactMatch hgnc:CELF6 semapv:UnspecifiedMatching +OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:14059 semapv:UnspecifiedMatching +OMIM:612681 CELF6 skos:exactMatch hgnc.symbol:CELF6 semapv:UnspecifiedMatching OMIM:612681 CELF6 skos:exactMatch ncbigene:60677 semapv:UnspecifiedMatching OMIM:612682 DRAXIN skos:exactMatch UMLS:C1823801 semapv:UnspecifiedMatching -OMIM:612682 DRAXIN skos:exactMatch hgnc:DRAXIN semapv:UnspecifiedMatching +OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:25054 semapv:UnspecifiedMatching +OMIM:612682 DRAXIN skos:exactMatch hgnc.symbol:DRAXIN semapv:UnspecifiedMatching OMIM:612682 DRAXIN skos:exactMatch ncbigene:374946 semapv:UnspecifiedMatching -OMIM:612683 TEKT3 skos:exactMatch hgnc:TEKT3 semapv:UnspecifiedMatching +OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:14293 semapv:UnspecifiedMatching +OMIM:612683 TEKT3 skos:exactMatch hgnc.symbol:TEKT3 semapv:UnspecifiedMatching OMIM:612683 TEKT3 skos:exactMatch ncbigene:64518 semapv:UnspecifiedMatching -OMIM:612684 ISM2 skos:exactMatch hgnc:ISM2 semapv:UnspecifiedMatching +OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:23176 semapv:UnspecifiedMatching +OMIM:612684 ISM2 skos:exactMatch hgnc.symbol:ISM2 semapv:UnspecifiedMatching OMIM:612684 ISM2 skos:exactMatch ncbigene:145501 semapv:UnspecifiedMatching -OMIM:612685 CAMSAP3 skos:exactMatch hgnc:CAMSAP3 semapv:UnspecifiedMatching +OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:29307 semapv:UnspecifiedMatching +OMIM:612685 CAMSAP3 skos:exactMatch hgnc.symbol:CAMSAP3 semapv:UnspecifiedMatching OMIM:612685 CAMSAP3 skos:exactMatch ncbigene:57662 semapv:UnspecifiedMatching -OMIM:612686 PLEKHA7 skos:exactMatch hgnc:PLEKHA7 semapv:UnspecifiedMatching +OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:27049 semapv:UnspecifiedMatching +OMIM:612686 PLEKHA7 skos:exactMatch hgnc.symbol:PLEKHA7 semapv:UnspecifiedMatching OMIM:612686 PLEKHA7 skos:exactMatch ncbigene:144100 semapv:UnspecifiedMatching -OMIM:612687 RGMB skos:exactMatch hgnc:RGMB semapv:UnspecifiedMatching +OMIM:612687 RGMB skos:exactMatch hgnc.symbol:26896 semapv:UnspecifiedMatching +OMIM:612687 RGMB skos:exactMatch hgnc.symbol:RGMB semapv:UnspecifiedMatching OMIM:612687 RGMB skos:exactMatch ncbigene:285704 semapv:UnspecifiedMatching -OMIM:612688 RNF168 skos:exactMatch hgnc:RNF168 semapv:UnspecifiedMatching +OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:26661 semapv:UnspecifiedMatching +OMIM:612688 RNF168 skos:exactMatch hgnc.symbol:RNF168 semapv:UnspecifiedMatching OMIM:612688 RNF168 skos:exactMatch ncbigene:165918 semapv:UnspecifiedMatching -OMIM:612689 TJP3 skos:exactMatch hgnc:TJP3 semapv:UnspecifiedMatching +OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:11829 semapv:UnspecifiedMatching +OMIM:612689 TJP3 skos:exactMatch hgnc.symbol:TJP3 semapv:UnspecifiedMatching OMIM:612689 TJP3 skos:exactMatch ncbigene:27134 semapv:UnspecifiedMatching -OMIM:612693 URM1 skos:exactMatch hgnc:URM1 semapv:UnspecifiedMatching +OMIM:612693 URM1 skos:exactMatch hgnc.symbol:28378 semapv:UnspecifiedMatching +OMIM:612693 URM1 skos:exactMatch hgnc.symbol:URM1 semapv:UnspecifiedMatching OMIM:612693 URM1 skos:exactMatch ncbigene:81605 semapv:UnspecifiedMatching -OMIM:612694 CTU1 skos:exactMatch hgnc:CTU1 semapv:UnspecifiedMatching +OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:29590 semapv:UnspecifiedMatching +OMIM:612694 CTU1 skos:exactMatch hgnc.symbol:CTU1 semapv:UnspecifiedMatching OMIM:612694 CTU1 skos:exactMatch ncbigene:90353 semapv:UnspecifiedMatching -OMIM:612695 VTRNA1-1 skos:exactMatch hgnc:VTRNA1-1 semapv:UnspecifiedMatching +OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:12654 semapv:UnspecifiedMatching +OMIM:612695 VTRNA1-1 skos:exactMatch hgnc.symbol:VTRNA1-1 semapv:UnspecifiedMatching OMIM:612695 VTRNA1-1 skos:exactMatch ncbigene:56664 semapv:UnspecifiedMatching -OMIM:612696 VTRNA1-2 skos:exactMatch hgnc:VTRNA1-2 semapv:UnspecifiedMatching +OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:12655 semapv:UnspecifiedMatching +OMIM:612696 VTRNA1-2 skos:exactMatch hgnc.symbol:VTRNA1-2 semapv:UnspecifiedMatching OMIM:612696 VTRNA1-2 skos:exactMatch ncbigene:56663 semapv:UnspecifiedMatching -OMIM:612697 VTRNA1-3 skos:exactMatch hgnc:VTRNA1-3 semapv:UnspecifiedMatching +OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:12656 semapv:UnspecifiedMatching +OMIM:612697 VTRNA1-3 skos:exactMatch hgnc.symbol:VTRNA1-3 semapv:UnspecifiedMatching OMIM:612697 VTRNA1-3 skos:exactMatch ncbigene:56662 semapv:UnspecifiedMatching -OMIM:612698 MIR187 skos:exactMatch hgnc:MIR187 semapv:UnspecifiedMatching +OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:31558 semapv:UnspecifiedMatching +OMIM:612698 MIR187 skos:exactMatch hgnc.symbol:MIR187 semapv:UnspecifiedMatching OMIM:612698 MIR187 skos:exactMatch ncbigene:406963 semapv:UnspecifiedMatching -OMIM:612699 RIMBP3 skos:exactMatch hgnc:RIMBP3 semapv:UnspecifiedMatching +OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:29344 semapv:UnspecifiedMatching +OMIM:612699 RIMBP3 skos:exactMatch hgnc.symbol:RIMBP3 semapv:UnspecifiedMatching OMIM:612699 RIMBP3 skos:exactMatch ncbigene:85376 semapv:UnspecifiedMatching -OMIM:612700 RIMBP3B skos:exactMatch hgnc:RIMBP3B semapv:UnspecifiedMatching +OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:33891 semapv:UnspecifiedMatching +OMIM:612700 RIMBP3B skos:exactMatch hgnc.symbol:RIMBP3B semapv:UnspecifiedMatching OMIM:612700 RIMBP3B skos:exactMatch ncbigene:440804 semapv:UnspecifiedMatching -OMIM:612701 RIMBP3C skos:exactMatch hgnc:RIMBP3C semapv:UnspecifiedMatching +OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:33892 semapv:UnspecifiedMatching +OMIM:612701 RIMBP3C skos:exactMatch hgnc.symbol:RIMBP3C semapv:UnspecifiedMatching OMIM:612701 RIMBP3C skos:exactMatch ncbigene:150221 semapv:UnspecifiedMatching -OMIM:612704 RGPD1 skos:exactMatch hgnc:RGPD1 semapv:UnspecifiedMatching +OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:32414 semapv:UnspecifiedMatching +OMIM:612704 RGPD1 skos:exactMatch hgnc.symbol:RGPD1 semapv:UnspecifiedMatching OMIM:612704 RGPD1 skos:exactMatch ncbigene:400966 semapv:UnspecifiedMatching -OMIM:612705 RGPD2 skos:exactMatch hgnc:RGPD2 semapv:UnspecifiedMatching +OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:32415 semapv:UnspecifiedMatching +OMIM:612705 RGPD2 skos:exactMatch hgnc.symbol:RGPD2 semapv:UnspecifiedMatching OMIM:612705 RGPD2 skos:exactMatch ncbigene:729857 semapv:UnspecifiedMatching -OMIM:612706 RGPD3 skos:exactMatch hgnc:RGPD3 semapv:UnspecifiedMatching +OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:32416 semapv:UnspecifiedMatching +OMIM:612706 RGPD3 skos:exactMatch hgnc.symbol:RGPD3 semapv:UnspecifiedMatching OMIM:612706 RGPD3 skos:exactMatch ncbigene:653489 semapv:UnspecifiedMatching -OMIM:612707 RGPD4 skos:exactMatch hgnc:RGPD4 semapv:UnspecifiedMatching +OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:32417 semapv:UnspecifiedMatching +OMIM:612707 RGPD4 skos:exactMatch hgnc.symbol:RGPD4 semapv:UnspecifiedMatching OMIM:612707 RGPD4 skos:exactMatch ncbigene:285190 semapv:UnspecifiedMatching -OMIM:612708 RGPD5 skos:exactMatch hgnc:RGPD5 semapv:UnspecifiedMatching +OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:32418 semapv:UnspecifiedMatching +OMIM:612708 RGPD5 skos:exactMatch hgnc.symbol:RGPD5 semapv:UnspecifiedMatching OMIM:612708 RGPD5 skos:exactMatch ncbigene:84220 semapv:UnspecifiedMatching -OMIM:612709 RGPD6 skos:exactMatch hgnc:RGPD6 semapv:UnspecifiedMatching +OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:32419 semapv:UnspecifiedMatching +OMIM:612709 RGPD6 skos:exactMatch hgnc.symbol:RGPD6 semapv:UnspecifiedMatching OMIM:612709 RGPD6 skos:exactMatch ncbigene:729540 semapv:UnspecifiedMatching -OMIM:612711 GCC2 skos:exactMatch hgnc:GCC2 semapv:UnspecifiedMatching +OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:23218 semapv:UnspecifiedMatching +OMIM:612711 GCC2 skos:exactMatch hgnc.symbol:GCC2 semapv:UnspecifiedMatching OMIM:612711 GCC2 skos:exactMatch ncbigene:9648 semapv:UnspecifiedMatching -OMIM:612719 PTS skos:exactMatch hgnc:PTS semapv:UnspecifiedMatching +OMIM:612719 PTS skos:exactMatch hgnc.symbol:9689 semapv:UnspecifiedMatching +OMIM:612719 PTS skos:exactMatch hgnc.symbol:PTS semapv:UnspecifiedMatching OMIM:612719 PTS skos:exactMatch ncbigene:5805 semapv:UnspecifiedMatching OMIM:612720 DHX29 skos:exactMatch UMLS:C1423751 semapv:UnspecifiedMatching -OMIM:612720 DHX29 skos:exactMatch hgnc:DHX29 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:15815 semapv:UnspecifiedMatching +OMIM:612720 DHX29 skos:exactMatch hgnc.symbol:DHX29 semapv:UnspecifiedMatching OMIM:612720 DHX29 skos:exactMatch ncbigene:54505 semapv:UnspecifiedMatching -OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc:RESP18 semapv:UnspecifiedMatching +OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:33762 semapv:UnspecifiedMatching +OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch hgnc.symbol:RESP18 semapv:UnspecifiedMatching OMIM:612721 regulated endocrine-specific protein 18 skos:exactMatch ncbigene:389075 semapv:UnspecifiedMatching -OMIM:612722 ELP3 skos:exactMatch hgnc:ELP3 semapv:UnspecifiedMatching +OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:20696 semapv:UnspecifiedMatching +OMIM:612722 ELP3 skos:exactMatch hgnc.symbol:ELP3 semapv:UnspecifiedMatching OMIM:612722 ELP3 skos:exactMatch ncbigene:55140 semapv:UnspecifiedMatching -OMIM:612723 PLEKHH2 skos:exactMatch hgnc:PLEKHH2 semapv:UnspecifiedMatching +OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:30506 semapv:UnspecifiedMatching +OMIM:612723 PLEKHH2 skos:exactMatch hgnc.symbol:PLEKHH2 semapv:UnspecifiedMatching OMIM:612723 PLEKHH2 skos:exactMatch ncbigene:130271 semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch UMLS:C0016751 semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch UMLS:C1412347 semapv:UnspecifiedMatching -OMIM:612724 ALDOB skos:exactMatch hgnc:ALDOB semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:417 semapv:UnspecifiedMatching +OMIM:612724 ALDOB skos:exactMatch hgnc.symbol:ALDOB semapv:UnspecifiedMatching OMIM:612724 ALDOB skos:exactMatch ncbigene:229 semapv:UnspecifiedMatching -OMIM:612725 PPP6C skos:exactMatch hgnc:PPP6C semapv:UnspecifiedMatching +OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:9323 semapv:UnspecifiedMatching +OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:PPP6C semapv:UnspecifiedMatching OMIM:612725 PPP6C skos:exactMatch ncbigene:5537 semapv:UnspecifiedMatching -OMIM:612730 SLC9A8 skos:exactMatch hgnc:SLC9A8 semapv:UnspecifiedMatching +OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:20728 semapv:UnspecifiedMatching +OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:SLC9A8 semapv:UnspecifiedMatching OMIM:612730 SLC9A8 skos:exactMatch ncbigene:23315 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C0342856 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C1413681 semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch UMLS:C4017281 semapv:UnspecifiedMatching -OMIM:612732 CPOX skos:exactMatch hgnc:CPOX semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch hgnc.symbol:2321 semapv:UnspecifiedMatching +OMIM:612732 CPOX skos:exactMatch hgnc.symbol:CPOX semapv:UnspecifiedMatching OMIM:612732 CPOX skos:exactMatch ncbigene:1371 semapv:UnspecifiedMatching -OMIM:612733 THOC5 skos:exactMatch hgnc:THOC5 semapv:UnspecifiedMatching +OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:19074 semapv:UnspecifiedMatching +OMIM:612733 THOC5 skos:exactMatch hgnc.symbol:THOC5 semapv:UnspecifiedMatching OMIM:612733 THOC5 skos:exactMatch ncbigene:8563 semapv:UnspecifiedMatching -OMIM:612734 TLX1NB skos:exactMatch hgnc:TLX1NB semapv:UnspecifiedMatching +OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:37183 semapv:UnspecifiedMatching +OMIM:612734 TLX1NB skos:exactMatch hgnc.symbol:TLX1NB semapv:UnspecifiedMatching OMIM:612734 TLX1NB skos:exactMatch ncbigene:100038246 semapv:UnspecifiedMatching -OMIM:612735 HLA-DRB3 skos:exactMatch hgnc:HLA-DRB3 semapv:UnspecifiedMatching +OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:4951 semapv:UnspecifiedMatching +OMIM:612735 HLA-DRB3 skos:exactMatch hgnc.symbol:HLA-DRB3 semapv:UnspecifiedMatching OMIM:612735 HLA-DRB3 skos:exactMatch ncbigene:3125 semapv:UnspecifiedMatching +OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching -OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch orphanet.ordo:382 semapv:UnspecifiedMatching -OMIM:612738 SLC9A10 skos:exactMatch hgnc:SLC9C1 semapv:UnspecifiedMatching +OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:31401 semapv:UnspecifiedMatching +OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:SLC9C1 semapv:UnspecifiedMatching OMIM:612738 SLC9A10 skos:exactMatch ncbigene:285335 semapv:UnspecifiedMatching -OMIM:612739 SPACA1 skos:exactMatch hgnc:SPACA1 semapv:UnspecifiedMatching +OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:14967 semapv:UnspecifiedMatching +OMIM:612739 SPACA1 skos:exactMatch hgnc.symbol:SPACA1 semapv:UnspecifiedMatching OMIM:612739 SPACA1 skos:exactMatch ncbigene:81833 semapv:UnspecifiedMatching -OMIM:612741 SNAI3 skos:exactMatch hgnc:SNAI3 semapv:UnspecifiedMatching +OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:18411 semapv:UnspecifiedMatching +OMIM:612741 SNAI3 skos:exactMatch hgnc.symbol:SNAI3 semapv:UnspecifiedMatching OMIM:612741 SNAI3 skos:exactMatch ncbigene:333929 semapv:UnspecifiedMatching -OMIM:612742 MIR181A1 skos:exactMatch hgnc:MIR181A1 semapv:UnspecifiedMatching +OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:31590 semapv:UnspecifiedMatching +OMIM:612742 MIR181A1 skos:exactMatch hgnc.symbol:MIR181A1 semapv:UnspecifiedMatching OMIM:612742 MIR181A1 skos:exactMatch ncbigene:406995 semapv:UnspecifiedMatching -OMIM:612743 MIR181A2 skos:exactMatch hgnc:MIR181A2 semapv:UnspecifiedMatching +OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:31549 semapv:UnspecifiedMatching +OMIM:612743 MIR181A2 skos:exactMatch hgnc.symbol:MIR181A2 semapv:UnspecifiedMatching OMIM:612743 MIR181A2 skos:exactMatch ncbigene:406954 semapv:UnspecifiedMatching -OMIM:612744 MIR181B1 skos:exactMatch hgnc:MIR181B1 semapv:UnspecifiedMatching +OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:31550 semapv:UnspecifiedMatching +OMIM:612744 MIR181B1 skos:exactMatch hgnc.symbol:MIR181B1 semapv:UnspecifiedMatching OMIM:612744 MIR181B1 skos:exactMatch ncbigene:406955 semapv:UnspecifiedMatching -OMIM:612745 MIR181B2 skos:exactMatch hgnc:MIR181B2 semapv:UnspecifiedMatching +OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:31551 semapv:UnspecifiedMatching +OMIM:612745 MIR181B2 skos:exactMatch hgnc.symbol:MIR181B2 semapv:UnspecifiedMatching OMIM:612745 MIR181B2 skos:exactMatch ncbigene:406956 semapv:UnspecifiedMatching -OMIM:612746 MIR181C skos:exactMatch hgnc:MIR181C semapv:UnspecifiedMatching +OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:31552 semapv:UnspecifiedMatching +OMIM:612746 MIR181C skos:exactMatch hgnc.symbol:MIR181C semapv:UnspecifiedMatching OMIM:612746 MIR181C skos:exactMatch ncbigene:406957 semapv:UnspecifiedMatching -OMIM:612747 TFIP11 skos:exactMatch hgnc:TFIP11 semapv:UnspecifiedMatching +OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:17165 semapv:UnspecifiedMatching +OMIM:612747 TFIP11 skos:exactMatch hgnc.symbol:TFIP11 semapv:UnspecifiedMatching OMIM:612747 TFIP11 skos:exactMatch ncbigene:24144 semapv:UnspecifiedMatching -OMIM:612748 LYZL2 skos:exactMatch hgnc:LYZL2 semapv:UnspecifiedMatching +OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:29613 semapv:UnspecifiedMatching +OMIM:612748 LYZL2 skos:exactMatch hgnc.symbol:LYZL2 semapv:UnspecifiedMatching OMIM:612748 LYZL2 skos:exactMatch ncbigene:119180 semapv:UnspecifiedMatching -OMIM:612749 SPACA3 skos:exactMatch hgnc:SPACA3 semapv:UnspecifiedMatching +OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:16260 semapv:UnspecifiedMatching +OMIM:612749 SPACA3 skos:exactMatch hgnc.symbol:SPACA3 semapv:UnspecifiedMatching OMIM:612749 SPACA3 skos:exactMatch ncbigene:124912 semapv:UnspecifiedMatching -OMIM:612750 LYZL4 skos:exactMatch hgnc:LYZL4 semapv:UnspecifiedMatching +OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:28387 semapv:UnspecifiedMatching +OMIM:612750 LYZL4 skos:exactMatch hgnc.symbol:LYZL4 semapv:UnspecifiedMatching OMIM:612750 LYZL4 skos:exactMatch ncbigene:131375 semapv:UnspecifiedMatching -OMIM:612751 LYZL6 skos:exactMatch hgnc:LYZL6 semapv:UnspecifiedMatching +OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:29614 semapv:UnspecifiedMatching +OMIM:612751 LYZL6 skos:exactMatch hgnc.symbol:LYZL6 semapv:UnspecifiedMatching OMIM:612751 LYZL6 skos:exactMatch ncbigene:57151 semapv:UnspecifiedMatching -OMIM:612752 CXXC5 skos:exactMatch hgnc:CXXC5 semapv:UnspecifiedMatching +OMIM:612752 CXXC5 skos:exactMatch hgnc.symbol:26943 semapv:UnspecifiedMatching +OMIM:612752 CXXC5 skos:exactMatch hgnc.symbol:CXXC5 semapv:UnspecifiedMatching OMIM:612752 CXXC5 skos:exactMatch ncbigene:51523 semapv:UnspecifiedMatching -OMIM:612753 CCBE1 skos:exactMatch hgnc:CCBE1 semapv:UnspecifiedMatching +OMIM:612753 CCBE1 skos:exactMatch hgnc.symbol:29426 semapv:UnspecifiedMatching +OMIM:612753 CCBE1 skos:exactMatch hgnc.symbol:CCBE1 semapv:UnspecifiedMatching OMIM:612753 CCBE1 skos:exactMatch ncbigene:147372 semapv:UnspecifiedMatching -OMIM:612754 GLRX3 skos:exactMatch hgnc:GLRX3 semapv:UnspecifiedMatching +OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:15987 semapv:UnspecifiedMatching +OMIM:612754 GLRX3 skos:exactMatch hgnc.symbol:GLRX3 semapv:UnspecifiedMatching OMIM:612754 GLRX3 skos:exactMatch ncbigene:10539 semapv:UnspecifiedMatching OMIM:612755 NAA25 skos:exactMatch UMLS:C1824351 semapv:UnspecifiedMatching -OMIM:612755 NAA25 skos:exactMatch hgnc:NAA25 semapv:UnspecifiedMatching +OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:25783 semapv:UnspecifiedMatching +OMIM:612755 NAA25 skos:exactMatch hgnc.symbol:NAA25 semapv:UnspecifiedMatching OMIM:612755 NAA25 skos:exactMatch ncbigene:80018 semapv:UnspecifiedMatching -OMIM:612756 TCAM1 skos:exactMatch hgnc:TCAM1P semapv:UnspecifiedMatching +OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:30707 semapv:UnspecifiedMatching +OMIM:612756 TCAM1 skos:exactMatch hgnc.symbol:TCAM1P semapv:UnspecifiedMatching OMIM:612756 TCAM1 skos:exactMatch ncbigene:146771 semapv:UnspecifiedMatching -OMIM:612757 GPIHBP1 skos:exactMatch hgnc:GPIHBP1 semapv:UnspecifiedMatching +OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:24945 semapv:UnspecifiedMatching +OMIM:612757 GPIHBP1 skos:exactMatch hgnc.symbol:GPIHBP1 semapv:UnspecifiedMatching OMIM:612757 GPIHBP1 skos:exactMatch ncbigene:338328 semapv:UnspecifiedMatching -OMIM:612758 TAPT1 skos:exactMatch hgnc:TAPT1 semapv:UnspecifiedMatching +OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:26887 semapv:UnspecifiedMatching +OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:TAPT1 semapv:UnspecifiedMatching OMIM:612758 TAPT1 skos:exactMatch ncbigene:202018 semapv:UnspecifiedMatching -OMIM:612760 SNRK skos:exactMatch hgnc:SNRK semapv:UnspecifiedMatching +OMIM:612760 SNRK skos:exactMatch hgnc.symbol:30598 semapv:UnspecifiedMatching +OMIM:612760 SNRK skos:exactMatch hgnc.symbol:SNRK semapv:UnspecifiedMatching OMIM:612760 SNRK skos:exactMatch ncbigene:54861 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406707 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C0406767 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1425496 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch UMLS:C1852150 semapv:UnspecifiedMatching -OMIM:612761 SMARCAD1 skos:exactMatch hgnc:SMARCAD1 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:18398 semapv:UnspecifiedMatching +OMIM:612761 SMARCAD1 skos:exactMatch hgnc.symbol:SMARCAD1 semapv:UnspecifiedMatching OMIM:612761 SMARCAD1 skos:exactMatch ncbigene:56916 semapv:UnspecifiedMatching OMIM:612762 SUPT7L skos:exactMatch UMLS:C1823153 semapv:UnspecifiedMatching -OMIM:612762 SUPT7L skos:exactMatch hgnc:SUPT7L semapv:UnspecifiedMatching +OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:30632 semapv:UnspecifiedMatching +OMIM:612762 SUPT7L skos:exactMatch hgnc.symbol:SUPT7L semapv:UnspecifiedMatching OMIM:612762 SUPT7L skos:exactMatch ncbigene:9913 semapv:UnspecifiedMatching -OMIM:612763 TADA1L skos:exactMatch hgnc:TADA1 semapv:UnspecifiedMatching +OMIM:612763 TADA1L skos:exactMatch hgnc.symbol:30631 semapv:UnspecifiedMatching +OMIM:612763 TADA1L skos:exactMatch hgnc.symbol:TADA1 semapv:UnspecifiedMatching OMIM:612763 TADA1L skos:exactMatch ncbigene:117143 semapv:UnspecifiedMatching -OMIM:612764 ISY1 skos:exactMatch hgnc:ISY1 semapv:UnspecifiedMatching +OMIM:612764 ISY1 skos:exactMatch hgnc.symbol:29201 semapv:UnspecifiedMatching +OMIM:612764 ISY1 skos:exactMatch hgnc.symbol:ISY1 semapv:UnspecifiedMatching OMIM:612764 ISY1 skos:exactMatch ncbigene:57461 semapv:UnspecifiedMatching OMIM:612765 SFI1 skos:exactMatch UMLS:C1539759 semapv:UnspecifiedMatching -OMIM:612765 SFI1 skos:exactMatch hgnc:SFI1 semapv:UnspecifiedMatching +OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:29064 semapv:UnspecifiedMatching +OMIM:612765 SFI1 skos:exactMatch hgnc.symbol:SFI1 semapv:UnspecifiedMatching OMIM:612765 SFI1 skos:exactMatch ncbigene:9814 semapv:UnspecifiedMatching -OMIM:612766 BABAM1 skos:exactMatch hgnc:BABAM1 semapv:UnspecifiedMatching +OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:25008 semapv:UnspecifiedMatching +OMIM:612766 BABAM1 skos:exactMatch hgnc.symbol:BABAM1 semapv:UnspecifiedMatching OMIM:612766 BABAM1 skos:exactMatch ncbigene:29086 semapv:UnspecifiedMatching OMIM:612767 DHX36 skos:exactMatch UMLS:C1422629 semapv:UnspecifiedMatching -OMIM:612767 DHX36 skos:exactMatch hgnc:DHX36 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:14410 semapv:UnspecifiedMatching +OMIM:612767 DHX36 skos:exactMatch hgnc.symbol:DHX36 semapv:UnspecifiedMatching OMIM:612767 DHX36 skos:exactMatch ncbigene:170506 semapv:UnspecifiedMatching -OMIM:612768 FNIP2 skos:exactMatch hgnc:FNIP2 semapv:UnspecifiedMatching +OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:29280 semapv:UnspecifiedMatching +OMIM:612768 FNIP2 skos:exactMatch hgnc.symbol:FNIP2 semapv:UnspecifiedMatching OMIM:612768 FNIP2 skos:exactMatch ncbigene:57600 semapv:UnspecifiedMatching OMIM:612769 NEAT1 skos:exactMatch UMLS:C2681866 semapv:UnspecifiedMatching -OMIM:612769 NEAT1 skos:exactMatch hgnc:NEAT1 semapv:UnspecifiedMatching +OMIM:612769 NEAT1 skos:exactMatch hgnc.symbol:30815 semapv:UnspecifiedMatching +OMIM:612769 NEAT1 skos:exactMatch hgnc.symbol:NEAT1 semapv:UnspecifiedMatching OMIM:612769 NEAT1 skos:exactMatch ncbigene:283131 semapv:UnspecifiedMatching OMIM:612770 PISD skos:exactMatch UMLS:C1418591 semapv:UnspecifiedMatching OMIM:612770 PISD skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching -OMIM:612770 PISD skos:exactMatch hgnc:PISD semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch hgnc.symbol:8999 semapv:UnspecifiedMatching +OMIM:612770 PISD skos:exactMatch hgnc.symbol:PISD semapv:UnspecifiedMatching OMIM:612770 PISD skos:exactMatch ncbigene:23761 semapv:UnspecifiedMatching -OMIM:612771 DUOXA1 skos:exactMatch hgnc:DUOXA1 semapv:UnspecifiedMatching +OMIM:612771 DUOXA1 skos:exactMatch hgnc.symbol:26507 semapv:UnspecifiedMatching +OMIM:612771 DUOXA1 skos:exactMatch hgnc.symbol:DUOXA1 semapv:UnspecifiedMatching OMIM:612771 DUOXA1 skos:exactMatch ncbigene:90527 semapv:UnspecifiedMatching -OMIM:612772 DUOXA2 skos:exactMatch hgnc:DUOXA2 semapv:UnspecifiedMatching +OMIM:612772 DUOXA2 skos:exactMatch hgnc.symbol:32698 semapv:UnspecifiedMatching +OMIM:612772 DUOXA2 skos:exactMatch hgnc.symbol:DUOXA2 semapv:UnspecifiedMatching OMIM:612772 DUOXA2 skos:exactMatch ncbigene:405753 semapv:UnspecifiedMatching -OMIM:612773 BCAM skos:exactMatch hgnc:BCAM semapv:UnspecifiedMatching +OMIM:612773 BCAM skos:exactMatch hgnc.symbol:6722 semapv:UnspecifiedMatching +OMIM:612773 BCAM skos:exactMatch hgnc.symbol:BCAM semapv:UnspecifiedMatching OMIM:612773 BCAM skos:exactMatch ncbigene:4059 semapv:UnspecifiedMatching -OMIM:612774 TAS2R46 skos:exactMatch hgnc:TAS2R46 semapv:UnspecifiedMatching +OMIM:612774 TAS2R46 skos:exactMatch hgnc.symbol:18877 semapv:UnspecifiedMatching +OMIM:612774 TAS2R46 skos:exactMatch hgnc.symbol:TAS2R46 semapv:UnspecifiedMatching OMIM:612774 TAS2R46 skos:exactMatch ncbigene:259292 semapv:UnspecifiedMatching -OMIM:612778 SETD2 skos:exactMatch hgnc:SETD2 semapv:UnspecifiedMatching +OMIM:612778 SETD2 skos:exactMatch hgnc.symbol:18420 semapv:UnspecifiedMatching +OMIM:612778 SETD2 skos:exactMatch hgnc.symbol:SETD2 semapv:UnspecifiedMatching OMIM:612778 SETD2 skos:exactMatch ncbigene:29072 semapv:UnspecifiedMatching -OMIM:612779 DPYD skos:exactMatch hgnc:DPYD semapv:UnspecifiedMatching +OMIM:612779 DPYD skos:exactMatch hgnc.symbol:3012 semapv:UnspecifiedMatching +OMIM:612779 DPYD skos:exactMatch hgnc.symbol:DPYD semapv:UnspecifiedMatching OMIM:612779 DPYD skos:exactMatch ncbigene:1806 semapv:UnspecifiedMatching -OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc:HYPK semapv:UnspecifiedMatching +OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc.symbol:18418 semapv:UnspecifiedMatching +OMIM:612784 huntingtin-interacting protein k skos:exactMatch hgnc.symbol:HYPK semapv:UnspecifiedMatching OMIM:612784 huntingtin-interacting protein k skos:exactMatch ncbigene:25764 semapv:UnspecifiedMatching -OMIM:612786 CCNY skos:exactMatch hgnc:CCNY semapv:UnspecifiedMatching +OMIM:612786 CCNY skos:exactMatch hgnc.symbol:23354 semapv:UnspecifiedMatching +OMIM:612786 CCNY skos:exactMatch hgnc.symbol:CCNY semapv:UnspecifiedMatching OMIM:612786 CCNY skos:exactMatch ncbigene:219771 semapv:UnspecifiedMatching -OMIM:612787 PUS10 skos:exactMatch hgnc:PUS10 semapv:UnspecifiedMatching +OMIM:612787 PUS10 skos:exactMatch hgnc.symbol:26505 semapv:UnspecifiedMatching +OMIM:612787 PUS10 skos:exactMatch hgnc.symbol:PUS10 semapv:UnspecifiedMatching OMIM:612787 PUS10 skos:exactMatch ncbigene:150962 semapv:UnspecifiedMatching -OMIM:612788 FOXQ1 skos:exactMatch hgnc:FOXQ1 semapv:UnspecifiedMatching +OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:20951 semapv:UnspecifiedMatching +OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:FOXQ1 semapv:UnspecifiedMatching OMIM:612788 FOXQ1 skos:exactMatch ncbigene:94234 semapv:UnspecifiedMatching -OMIM:612790 ARHGEF28 skos:exactMatch hgnc:ARHGEF28 semapv:UnspecifiedMatching +OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:30322 semapv:UnspecifiedMatching +OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:ARHGEF28 semapv:UnspecifiedMatching OMIM:612790 ARHGEF28 skos:exactMatch ncbigene:64283 semapv:UnspecifiedMatching -OMIM:612791 ZKSCAN3 skos:exactMatch hgnc:ZKSCAN3 semapv:UnspecifiedMatching +OMIM:612791 ZKSCAN3 skos:exactMatch hgnc.symbol:13853 semapv:UnspecifiedMatching +OMIM:612791 ZKSCAN3 skos:exactMatch hgnc.symbol:ZKSCAN3 semapv:UnspecifiedMatching OMIM:612791 ZKSCAN3 skos:exactMatch ncbigene:80317 semapv:UnspecifiedMatching -OMIM:612792 PTDSS1 skos:exactMatch hgnc:PTDSS1 semapv:UnspecifiedMatching +OMIM:612792 PTDSS1 skos:exactMatch hgnc.symbol:9587 semapv:UnspecifiedMatching +OMIM:612792 PTDSS1 skos:exactMatch hgnc.symbol:PTDSS1 semapv:UnspecifiedMatching OMIM:612792 PTDSS1 skos:exactMatch ncbigene:9791 semapv:UnspecifiedMatching -OMIM:612793 PTDSS2 skos:exactMatch hgnc:PTDSS2 semapv:UnspecifiedMatching +OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:15463 semapv:UnspecifiedMatching +OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:PTDSS2 semapv:UnspecifiedMatching OMIM:612793 PTDSS2 skos:exactMatch ncbigene:81490 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch UMLS:C1825021 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch UMLS:C3554079 semapv:UnspecifiedMatching -OMIM:612799 EARS2 skos:exactMatch hgnc:EARS2 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:29419 semapv:UnspecifiedMatching +OMIM:612799 EARS2 skos:exactMatch hgnc.symbol:EARS2 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch ncbigene:124454 semapv:UnspecifiedMatching -OMIM:612800 CARS2 skos:exactMatch hgnc:CARS2 semapv:UnspecifiedMatching +OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:25695 semapv:UnspecifiedMatching +OMIM:612800 CARS2 skos:exactMatch hgnc.symbol:CARS2 semapv:UnspecifiedMatching OMIM:612800 CARS2 skos:exactMatch ncbigene:79587 semapv:UnspecifiedMatching -OMIM:612801 IARS2 skos:exactMatch hgnc:IARS2 semapv:UnspecifiedMatching +OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:29685 semapv:UnspecifiedMatching +OMIM:612801 IARS2 skos:exactMatch hgnc.symbol:IARS2 semapv:UnspecifiedMatching OMIM:612801 IARS2 skos:exactMatch ncbigene:55699 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch UMLS:C1823614 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching -OMIM:612802 VARS2 skos:exactMatch hgnc:VARS2 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:21642 semapv:UnspecifiedMatching +OMIM:612802 VARS2 skos:exactMatch hgnc.symbol:VARS2 semapv:UnspecifiedMatching OMIM:612802 VARS2 skos:exactMatch ncbigene:57176 semapv:UnspecifiedMatching -OMIM:612803 NARS2 skos:exactMatch hgnc:NARS2 semapv:UnspecifiedMatching +OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:26274 semapv:UnspecifiedMatching +OMIM:612803 NARS2 skos:exactMatch hgnc.symbol:NARS2 semapv:UnspecifiedMatching OMIM:612803 NARS2 skos:exactMatch ncbigene:79731 semapv:UnspecifiedMatching OMIM:612804 SARS2 skos:exactMatch UMLS:C1425041 semapv:UnspecifiedMatching OMIM:612804 SARS2 skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching -OMIM:612804 SARS2 skos:exactMatch hgnc:SARS2 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:17697 semapv:UnspecifiedMatching +OMIM:612804 SARS2 skos:exactMatch hgnc.symbol:SARS2 semapv:UnspecifiedMatching OMIM:612804 SARS2 skos:exactMatch ncbigene:54938 semapv:UnspecifiedMatching -OMIM:612805 TARS2 skos:exactMatch hgnc:TARS2 semapv:UnspecifiedMatching +OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:30740 semapv:UnspecifiedMatching +OMIM:612805 TARS2 skos:exactMatch hgnc.symbol:TARS2 semapv:UnspecifiedMatching OMIM:612805 TARS2 skos:exactMatch ncbigene:80222 semapv:UnspecifiedMatching -OMIM:612806 GPR89B skos:exactMatch hgnc:GPR89B semapv:UnspecifiedMatching +OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:13840 semapv:UnspecifiedMatching +OMIM:612806 GPR89B skos:exactMatch hgnc.symbol:GPR89B semapv:UnspecifiedMatching OMIM:612806 GPR89B skos:exactMatch ncbigene:51463 semapv:UnspecifiedMatching -OMIM:612807 LRFN1 skos:exactMatch hgnc:LRFN1 semapv:UnspecifiedMatching +OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:29290 semapv:UnspecifiedMatching +OMIM:612807 LRFN1 skos:exactMatch hgnc.symbol:LRFN1 semapv:UnspecifiedMatching OMIM:612807 LRFN1 skos:exactMatch ncbigene:57622 semapv:UnspecifiedMatching -OMIM:612808 LRFN2 skos:exactMatch hgnc:LRFN2 semapv:UnspecifiedMatching +OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:21226 semapv:UnspecifiedMatching +OMIM:612808 LRFN2 skos:exactMatch hgnc.symbol:LRFN2 semapv:UnspecifiedMatching OMIM:612808 LRFN2 skos:exactMatch ncbigene:57497 semapv:UnspecifiedMatching -OMIM:612809 LRFN3 skos:exactMatch hgnc:LRFN3 semapv:UnspecifiedMatching +OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:28370 semapv:UnspecifiedMatching +OMIM:612809 LRFN3 skos:exactMatch hgnc.symbol:LRFN3 semapv:UnspecifiedMatching OMIM:612809 LRFN3 skos:exactMatch ncbigene:79414 semapv:UnspecifiedMatching -OMIM:612810 LRFN4 skos:exactMatch hgnc:LRFN4 semapv:UnspecifiedMatching +OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:28456 semapv:UnspecifiedMatching +OMIM:612810 LRFN4 skos:exactMatch hgnc.symbol:LRFN4 semapv:UnspecifiedMatching OMIM:612810 LRFN4 skos:exactMatch ncbigene:78999 semapv:UnspecifiedMatching -OMIM:612811 LRFN5 skos:exactMatch hgnc:LRFN5 semapv:UnspecifiedMatching +OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:20360 semapv:UnspecifiedMatching +OMIM:612811 LRFN5 skos:exactMatch hgnc.symbol:LRFN5 semapv:UnspecifiedMatching OMIM:612811 LRFN5 skos:exactMatch ncbigene:145581 semapv:UnspecifiedMatching -OMIM:612812 PFN3 skos:exactMatch hgnc:PFN3 semapv:UnspecifiedMatching +OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:18627 semapv:UnspecifiedMatching +OMIM:612812 PFN3 skos:exactMatch hgnc.symbol:PFN3 semapv:UnspecifiedMatching OMIM:612812 PFN3 skos:exactMatch ncbigene:345456 semapv:UnspecifiedMatching -OMIM:612814 SPATA18 skos:exactMatch hgnc:SPATA18 semapv:UnspecifiedMatching +OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:29579 semapv:UnspecifiedMatching +OMIM:612814 SPATA18 skos:exactMatch hgnc.symbol:SPATA18 semapv:UnspecifiedMatching OMIM:612814 SPATA18 skos:exactMatch ncbigene:132671 semapv:UnspecifiedMatching -OMIM:612815 ZDHHC13 skos:exactMatch hgnc:ZDHHC13 semapv:UnspecifiedMatching +OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:18413 semapv:UnspecifiedMatching +OMIM:612815 ZDHHC13 skos:exactMatch hgnc.symbol:ZDHHC13 semapv:UnspecifiedMatching OMIM:612815 ZDHHC13 skos:exactMatch ncbigene:54503 semapv:UnspecifiedMatching OMIM:612816 UTP18 skos:exactMatch UMLS:C1823611 semapv:UnspecifiedMatching -OMIM:612816 UTP18 skos:exactMatch hgnc:UTP18 semapv:UnspecifiedMatching +OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:24274 semapv:UnspecifiedMatching +OMIM:612816 UTP18 skos:exactMatch hgnc.symbol:UTP18 semapv:UnspecifiedMatching OMIM:612816 UTP18 skos:exactMatch ncbigene:51096 semapv:UnspecifiedMatching OMIM:612817 KRR1 skos:exactMatch UMLS:C1825740 semapv:UnspecifiedMatching -OMIM:612817 KRR1 skos:exactMatch hgnc:KRR1 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:5176 semapv:UnspecifiedMatching +OMIM:612817 KRR1 skos:exactMatch hgnc.symbol:KRR1 semapv:UnspecifiedMatching OMIM:612817 KRR1 skos:exactMatch ncbigene:11103 semapv:UnspecifiedMatching -OMIM:612818 NUSAP1 skos:exactMatch hgnc:NUSAP1 semapv:UnspecifiedMatching +OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:18538 semapv:UnspecifiedMatching +OMIM:612818 NUSAP1 skos:exactMatch hgnc.symbol:NUSAP1 semapv:UnspecifiedMatching OMIM:612818 NUSAP1 skos:exactMatch ncbigene:51203 semapv:UnspecifiedMatching OMIM:612819 NOC4L skos:exactMatch UMLS:C1826447 semapv:UnspecifiedMatching -OMIM:612819 NOC4L skos:exactMatch hgnc:NOC4L semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:28461 semapv:UnspecifiedMatching +OMIM:612819 NOC4L skos:exactMatch hgnc.symbol:NOC4L semapv:UnspecifiedMatching OMIM:612819 NOC4L skos:exactMatch ncbigene:79050 semapv:UnspecifiedMatching -OMIM:612820 NPTN skos:exactMatch hgnc:NPTN semapv:UnspecifiedMatching +OMIM:612820 NPTN skos:exactMatch hgnc.symbol:17867 semapv:UnspecifiedMatching +OMIM:612820 NPTN skos:exactMatch hgnc.symbol:NPTN semapv:UnspecifiedMatching OMIM:612820 NPTN skos:exactMatch ncbigene:27020 semapv:UnspecifiedMatching -OMIM:612821 GPR89A skos:exactMatch hgnc:GPR89A semapv:UnspecifiedMatching +OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:31984 semapv:UnspecifiedMatching +OMIM:612821 GPR89A skos:exactMatch hgnc.symbol:GPR89A semapv:UnspecifiedMatching OMIM:612821 GPR89A skos:exactMatch ncbigene:653519 semapv:UnspecifiedMatching OMIM:612822 UTP20 skos:exactMatch UMLS:C1823612 semapv:UnspecifiedMatching -OMIM:612822 UTP20 skos:exactMatch hgnc:UTP20 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:17897 semapv:UnspecifiedMatching +OMIM:612822 UTP20 skos:exactMatch hgnc.symbol:UTP20 semapv:UnspecifiedMatching OMIM:612822 UTP20 skos:exactMatch ncbigene:27340 semapv:UnspecifiedMatching -OMIM:612823 TAF1D skos:exactMatch hgnc:TAF1D semapv:UnspecifiedMatching +OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:28759 semapv:UnspecifiedMatching +OMIM:612823 TAF1D skos:exactMatch hgnc.symbol:TAF1D semapv:UnspecifiedMatching OMIM:612823 TAF1D skos:exactMatch ncbigene:79101 semapv:UnspecifiedMatching -OMIM:612824 SEC14L3 skos:exactMatch hgnc:SEC14L3 semapv:UnspecifiedMatching +OMIM:612824 SEC14L3 skos:exactMatch hgnc.symbol:18655 semapv:UnspecifiedMatching +OMIM:612824 SEC14L3 skos:exactMatch hgnc.symbol:SEC14L3 semapv:UnspecifiedMatching OMIM:612824 SEC14L3 skos:exactMatch ncbigene:266629 semapv:UnspecifiedMatching -OMIM:612825 SEC14L4 skos:exactMatch hgnc:SEC14L4 semapv:UnspecifiedMatching +OMIM:612825 SEC14L4 skos:exactMatch hgnc.symbol:20627 semapv:UnspecifiedMatching +OMIM:612825 SEC14L4 skos:exactMatch hgnc.symbol:SEC14L4 semapv:UnspecifiedMatching OMIM:612825 SEC14L4 skos:exactMatch ncbigene:284904 semapv:UnspecifiedMatching -OMIM:612826 SGPP1 skos:exactMatch hgnc:SGPP1 semapv:UnspecifiedMatching +OMIM:612826 SGPP1 skos:exactMatch hgnc.symbol:17720 semapv:UnspecifiedMatching +OMIM:612826 SGPP1 skos:exactMatch hgnc.symbol:SGPP1 semapv:UnspecifiedMatching OMIM:612826 SGPP1 skos:exactMatch ncbigene:81537 semapv:UnspecifiedMatching -OMIM:612827 SGPP2 skos:exactMatch hgnc:SGPP2 semapv:UnspecifiedMatching +OMIM:612827 SGPP2 skos:exactMatch hgnc.symbol:19953 semapv:UnspecifiedMatching +OMIM:612827 SGPP2 skos:exactMatch hgnc.symbol:SGPP2 semapv:UnspecifiedMatching OMIM:612827 SGPP2 skos:exactMatch ncbigene:130367 semapv:UnspecifiedMatching -OMIM:612828 CEBPZ skos:exactMatch hgnc:CEBPZ semapv:UnspecifiedMatching +OMIM:612828 CEBPZ skos:exactMatch hgnc.symbol:24218 semapv:UnspecifiedMatching +OMIM:612828 CEBPZ skos:exactMatch hgnc.symbol:CEBPZ semapv:UnspecifiedMatching OMIM:612828 CEBPZ skos:exactMatch ncbigene:10153 semapv:UnspecifiedMatching -OMIM:612829 RAB3C skos:exactMatch hgnc:RAB3C semapv:UnspecifiedMatching +OMIM:612829 RAB3C skos:exactMatch hgnc.symbol:30269 semapv:UnspecifiedMatching +OMIM:612829 RAB3C skos:exactMatch hgnc.symbol:RAB3C semapv:UnspecifiedMatching OMIM:612829 RAB3C skos:exactMatch ncbigene:115827 semapv:UnspecifiedMatching -OMIM:612830 DHRS3 skos:exactMatch hgnc:DHRS3 semapv:UnspecifiedMatching +OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:17693 semapv:UnspecifiedMatching +OMIM:612830 DHRS3 skos:exactMatch hgnc.symbol:DHRS3 semapv:UnspecifiedMatching OMIM:612830 DHRS3 skos:exactMatch ncbigene:9249 semapv:UnspecifiedMatching -OMIM:612831 HSD17B11 skos:exactMatch hgnc:HSD17B11 semapv:UnspecifiedMatching +OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:22960 semapv:UnspecifiedMatching +OMIM:612831 HSD17B11 skos:exactMatch hgnc.symbol:HSD17B11 semapv:UnspecifiedMatching OMIM:612831 HSD17B11 skos:exactMatch ncbigene:51170 semapv:UnspecifiedMatching -OMIM:612832 HSD17B14 skos:exactMatch hgnc:HSD17B14 semapv:UnspecifiedMatching +OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:23238 semapv:UnspecifiedMatching +OMIM:612832 HSD17B14 skos:exactMatch hgnc.symbol:HSD17B14 semapv:UnspecifiedMatching OMIM:612832 HSD17B14 skos:exactMatch ncbigene:51171 semapv:UnspecifiedMatching -OMIM:612833 DHRS7 skos:exactMatch hgnc:DHRS7 semapv:UnspecifiedMatching +OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:21524 semapv:UnspecifiedMatching +OMIM:612833 DHRS7 skos:exactMatch hgnc.symbol:DHRS7 semapv:UnspecifiedMatching OMIM:612833 DHRS7 skos:exactMatch ncbigene:51635 semapv:UnspecifiedMatching -OMIM:612834 PHLDB1 skos:exactMatch hgnc:PHLDB1 semapv:UnspecifiedMatching +OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:23697 semapv:UnspecifiedMatching +OMIM:612834 PHLDB1 skos:exactMatch hgnc.symbol:PHLDB1 semapv:UnspecifiedMatching OMIM:612834 PHLDB1 skos:exactMatch ncbigene:23187 semapv:UnspecifiedMatching -OMIM:612835 PLCH1 skos:exactMatch hgnc:PLCH1 semapv:UnspecifiedMatching +OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:29185 semapv:UnspecifiedMatching +OMIM:612835 PLCH1 skos:exactMatch hgnc.symbol:PLCH1 semapv:UnspecifiedMatching OMIM:612835 PLCH1 skos:exactMatch ncbigene:23007 semapv:UnspecifiedMatching -OMIM:612836 PLCH2 skos:exactMatch hgnc:PLCH2 semapv:UnspecifiedMatching +OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:29037 semapv:UnspecifiedMatching +OMIM:612836 PLCH2 skos:exactMatch hgnc.symbol:PLCH2 semapv:UnspecifiedMatching OMIM:612836 PLCH2 skos:exactMatch ncbigene:9651 semapv:UnspecifiedMatching -OMIM:612837 COQ9 skos:exactMatch hgnc:COQ9 semapv:UnspecifiedMatching +OMIM:612837 COQ9 skos:exactMatch hgnc.symbol:25302 semapv:UnspecifiedMatching +OMIM:612837 COQ9 skos:exactMatch hgnc.symbol:COQ9 semapv:UnspecifiedMatching OMIM:612837 COQ9 skos:exactMatch ncbigene:57017 semapv:UnspecifiedMatching OMIM:612839 TET2 skos:exactMatch UMLS:C1825692 semapv:UnspecifiedMatching OMIM:612839 TET2 skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching -OMIM:612839 TET2 skos:exactMatch hgnc:TET2 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch hgnc.symbol:25941 semapv:UnspecifiedMatching +OMIM:612839 TET2 skos:exactMatch hgnc.symbol:TET2 semapv:UnspecifiedMatching OMIM:612839 TET2 skos:exactMatch ncbigene:54790 semapv:UnspecifiedMatching +OMIM:612841 hypotrichosis 5 skos:exactMatch Orphanet:444 semapv:UnspecifiedMatching OMIM:612841 hypotrichosis 5 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching -OMIM:612841 hypotrichosis 5 skos:exactMatch orphanet.ordo:444 semapv:UnspecifiedMatching -OMIM:612842 RASD2 skos:exactMatch hgnc:RASD2 semapv:UnspecifiedMatching +OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:18229 semapv:UnspecifiedMatching +OMIM:612842 RASD2 skos:exactMatch hgnc.symbol:RASD2 semapv:UnspecifiedMatching OMIM:612842 RASD2 skos:exactMatch ncbigene:23551 semapv:UnspecifiedMatching -OMIM:612844 SENP3 skos:exactMatch hgnc:SENP3 semapv:UnspecifiedMatching +OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:17862 semapv:UnspecifiedMatching +OMIM:612844 SENP3 skos:exactMatch hgnc.symbol:SENP3 semapv:UnspecifiedMatching OMIM:612844 SENP3 skos:exactMatch ncbigene:26168 semapv:UnspecifiedMatching -OMIM:612845 SENP5 skos:exactMatch hgnc:SENP5 semapv:UnspecifiedMatching +OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:28407 semapv:UnspecifiedMatching +OMIM:612845 SENP5 skos:exactMatch hgnc.symbol:SENP5 semapv:UnspecifiedMatching OMIM:612845 SENP5 skos:exactMatch ncbigene:205564 semapv:UnspecifiedMatching -OMIM:612846 SENP7 skos:exactMatch hgnc:SENP7 semapv:UnspecifiedMatching +OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:30402 semapv:UnspecifiedMatching +OMIM:612846 SENP7 skos:exactMatch hgnc.symbol:SENP7 semapv:UnspecifiedMatching OMIM:612846 SENP7 skos:exactMatch ncbigene:57337 semapv:UnspecifiedMatching -OMIM:612848 SDHAF1 skos:exactMatch hgnc:SDHAF1 semapv:UnspecifiedMatching +OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:33867 semapv:UnspecifiedMatching +OMIM:612848 SDHAF1 skos:exactMatch hgnc.symbol:SDHAF1 semapv:UnspecifiedMatching OMIM:612848 SDHAF1 skos:exactMatch ncbigene:644096 semapv:UnspecifiedMatching -OMIM:612849 USP46 skos:exactMatch hgnc:USP46 semapv:UnspecifiedMatching +OMIM:612849 USP46 skos:exactMatch hgnc.symbol:20075 semapv:UnspecifiedMatching +OMIM:612849 USP46 skos:exactMatch hgnc.symbol:USP46 semapv:UnspecifiedMatching OMIM:612849 USP46 skos:exactMatch ncbigene:64854 semapv:UnspecifiedMatching -OMIM:612850 TUBB2B skos:exactMatch hgnc:TUBB2B semapv:UnspecifiedMatching +OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:30829 semapv:UnspecifiedMatching +OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:TUBB2B semapv:UnspecifiedMatching OMIM:612850 TUBB2B skos:exactMatch ncbigene:347733 semapv:UnspecifiedMatching -OMIM:612854 SEC16A skos:exactMatch hgnc:SEC16A semapv:UnspecifiedMatching +OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:29006 semapv:UnspecifiedMatching +OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:SEC16A semapv:UnspecifiedMatching OMIM:612854 SEC16A skos:exactMatch ncbigene:9919 semapv:UnspecifiedMatching -OMIM:612855 SEC16B skos:exactMatch hgnc:SEC16B semapv:UnspecifiedMatching +OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:30301 semapv:UnspecifiedMatching +OMIM:612855 SEC16B skos:exactMatch hgnc.symbol:SEC16B semapv:UnspecifiedMatching OMIM:612855 SEC16B skos:exactMatch ncbigene:89866 semapv:UnspecifiedMatching -OMIM:612856 ASTN2 skos:exactMatch hgnc:ASTN2 semapv:UnspecifiedMatching +OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:17021 semapv:UnspecifiedMatching +OMIM:612856 ASTN2 skos:exactMatch hgnc.symbol:ASTN2 semapv:UnspecifiedMatching OMIM:612856 ASTN2 skos:exactMatch ncbigene:23245 semapv:UnspecifiedMatching -OMIM:612857 PLAC9 skos:exactMatch hgnc:PLAC9 semapv:UnspecifiedMatching +OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:19255 semapv:UnspecifiedMatching +OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:PLAC9 semapv:UnspecifiedMatching OMIM:612857 PLAC9 skos:exactMatch ncbigene:219348 semapv:UnspecifiedMatching -OMIM:612859 TIGIT skos:exactMatch hgnc:TIGIT semapv:UnspecifiedMatching +OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:26838 semapv:UnspecifiedMatching +OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:TIGIT semapv:UnspecifiedMatching OMIM:612859 TIGIT skos:exactMatch ncbigene:201633 semapv:UnspecifiedMatching -OMIM:612860 QSOX2 skos:exactMatch hgnc:QSOX2 semapv:UnspecifiedMatching +OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:30249 semapv:UnspecifiedMatching +OMIM:612860 QSOX2 skos:exactMatch hgnc.symbol:QSOX2 semapv:UnspecifiedMatching OMIM:612860 QSOX2 skos:exactMatch ncbigene:169714 semapv:UnspecifiedMatching -OMIM:612861 NOP16 skos:exactMatch hgnc:NOP16 semapv:UnspecifiedMatching +OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:26934 semapv:UnspecifiedMatching +OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:NOP16 semapv:UnspecifiedMatching OMIM:612861 NOP16 skos:exactMatch ncbigene:51491 semapv:UnspecifiedMatching -OMIM:612864 PLA2G4D skos:exactMatch hgnc:PLA2G4D semapv:UnspecifiedMatching +OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:30038 semapv:UnspecifiedMatching +OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:PLA2G4D semapv:UnspecifiedMatching OMIM:612864 PLA2G4D skos:exactMatch ncbigene:283748 semapv:UnspecifiedMatching -OMIM:612865 PIP5KL1 skos:exactMatch hgnc:PIP5KL1 semapv:UnspecifiedMatching +OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:28711 semapv:UnspecifiedMatching +OMIM:612865 PIP5KL1 skos:exactMatch hgnc.symbol:PIP5KL1 semapv:UnspecifiedMatching OMIM:612865 PIP5KL1 skos:exactMatch ncbigene:138429 semapv:UnspecifiedMatching OMIM:612866 ALG14 skos:exactMatch UMLS:C1823173 semapv:UnspecifiedMatching OMIM:612866 ALG14 skos:exactMatch UMLS:C4015596 semapv:UnspecifiedMatching OMIM:612866 ALG14 skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching OMIM:612866 ALG14 skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching -OMIM:612866 ALG14 skos:exactMatch hgnc:ALG14 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:28287 semapv:UnspecifiedMatching +OMIM:612866 ALG14 skos:exactMatch hgnc.symbol:ALG14 semapv:UnspecifiedMatching OMIM:612866 ALG14 skos:exactMatch ncbigene:199857 semapv:UnspecifiedMatching -OMIM:612869 ATRNL1 skos:exactMatch hgnc:ATRNL1 semapv:UnspecifiedMatching +OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:29063 semapv:UnspecifiedMatching +OMIM:612869 ATRNL1 skos:exactMatch hgnc.symbol:ATRNL1 semapv:UnspecifiedMatching OMIM:612869 ATRNL1 skos:exactMatch ncbigene:26033 semapv:UnspecifiedMatching -OMIM:612870 PHIP skos:exactMatch hgnc:PHIP semapv:UnspecifiedMatching +OMIM:612870 PHIP skos:exactMatch hgnc.symbol:15673 semapv:UnspecifiedMatching +OMIM:612870 PHIP skos:exactMatch hgnc.symbol:PHIP semapv:UnspecifiedMatching OMIM:612870 PHIP skos:exactMatch ncbigene:55023 semapv:UnspecifiedMatching -OMIM:612871 NKAIN1 skos:exactMatch hgnc:NKAIN1 semapv:UnspecifiedMatching +OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:25743 semapv:UnspecifiedMatching +OMIM:612871 NKAIN1 skos:exactMatch hgnc.symbol:NKAIN1 semapv:UnspecifiedMatching OMIM:612871 NKAIN1 skos:exactMatch ncbigene:79570 semapv:UnspecifiedMatching -OMIM:612872 NKAIN3 skos:exactMatch hgnc:NKAIN3 semapv:UnspecifiedMatching +OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:26829 semapv:UnspecifiedMatching +OMIM:612872 NKAIN3 skos:exactMatch hgnc.symbol:NKAIN3 semapv:UnspecifiedMatching OMIM:612872 NKAIN3 skos:exactMatch ncbigene:286183 semapv:UnspecifiedMatching -OMIM:612873 NKAIN4 skos:exactMatch hgnc:NKAIN4 semapv:UnspecifiedMatching +OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:16191 semapv:UnspecifiedMatching +OMIM:612873 NKAIN4 skos:exactMatch hgnc.symbol:NKAIN4 semapv:UnspecifiedMatching OMIM:612873 NKAIN4 skos:exactMatch ncbigene:128414 semapv:UnspecifiedMatching -OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc:GNRHR2 semapv:UnspecifiedMatching -OMIM:612878 EXPH5 skos:exactMatch hgnc:EXPH5 semapv:UnspecifiedMatching +OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:16341 semapv:UnspecifiedMatching +OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:GNRHR2 semapv:UnspecifiedMatching +OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:30578 semapv:UnspecifiedMatching +OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:EXPH5 semapv:UnspecifiedMatching OMIM:612878 EXPH5 skos:exactMatch ncbigene:23086 semapv:UnspecifiedMatching -OMIM:612879 MAMDC2 skos:exactMatch hgnc:MAMDC2 semapv:UnspecifiedMatching +OMIM:612879 MAMDC2 skos:exactMatch hgnc.symbol:23673 semapv:UnspecifiedMatching +OMIM:612879 MAMDC2 skos:exactMatch hgnc.symbol:MAMDC2 semapv:UnspecifiedMatching OMIM:612879 MAMDC2 skos:exactMatch ncbigene:256691 semapv:UnspecifiedMatching -OMIM:612880 SYTL2 skos:exactMatch hgnc:SYTL2 semapv:UnspecifiedMatching +OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:15585 semapv:UnspecifiedMatching +OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:SYTL2 semapv:UnspecifiedMatching OMIM:612880 SYTL2 skos:exactMatch ncbigene:54843 semapv:UnspecifiedMatching -OMIM:612887 SEPT11 skos:exactMatch hgnc:SEPTIN11 semapv:UnspecifiedMatching +OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:25589 semapv:UnspecifiedMatching +OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:SEPTIN11 semapv:UnspecifiedMatching OMIM:612887 SEPT11 skos:exactMatch ncbigene:55752 semapv:UnspecifiedMatching -OMIM:612888 LRRC8B skos:exactMatch hgnc:LRRC8B semapv:UnspecifiedMatching +OMIM:612888 LRRC8B skos:exactMatch hgnc.symbol:30692 semapv:UnspecifiedMatching +OMIM:612888 LRRC8B skos:exactMatch hgnc.symbol:LRRC8B semapv:UnspecifiedMatching OMIM:612888 LRRC8B skos:exactMatch ncbigene:23507 semapv:UnspecifiedMatching -OMIM:612889 LRRC8C skos:exactMatch hgnc:LRRC8C semapv:UnspecifiedMatching +OMIM:612889 LRRC8C skos:exactMatch hgnc.symbol:25075 semapv:UnspecifiedMatching +OMIM:612889 LRRC8C skos:exactMatch hgnc.symbol:LRRC8C semapv:UnspecifiedMatching OMIM:612889 LRRC8C skos:exactMatch ncbigene:84230 semapv:UnspecifiedMatching -OMIM:612890 LRRC8D skos:exactMatch hgnc:LRRC8D semapv:UnspecifiedMatching +OMIM:612890 LRRC8D skos:exactMatch hgnc.symbol:16992 semapv:UnspecifiedMatching +OMIM:612890 LRRC8D skos:exactMatch hgnc.symbol:LRRC8D semapv:UnspecifiedMatching OMIM:612890 LRRC8D skos:exactMatch ncbigene:55144 semapv:UnspecifiedMatching -OMIM:612891 LRRC8E skos:exactMatch hgnc:LRRC8E semapv:UnspecifiedMatching +OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:26272 semapv:UnspecifiedMatching +OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:LRRC8E semapv:UnspecifiedMatching OMIM:612891 LRRC8E skos:exactMatch ncbigene:80131 semapv:UnspecifiedMatching -OMIM:612895 NXN skos:exactMatch hgnc:NXN semapv:UnspecifiedMatching +OMIM:612895 NXN skos:exactMatch hgnc.symbol:18008 semapv:UnspecifiedMatching +OMIM:612895 NXN skos:exactMatch hgnc.symbol:NXN semapv:UnspecifiedMatching OMIM:612895 NXN skos:exactMatch ncbigene:64359 semapv:UnspecifiedMatching -OMIM:612896 RDM1 skos:exactMatch hgnc:RDM1 semapv:UnspecifiedMatching +OMIM:612896 RDM1 skos:exactMatch hgnc.symbol:19950 semapv:UnspecifiedMatching +OMIM:612896 RDM1 skos:exactMatch hgnc.symbol:RDM1 semapv:UnspecifiedMatching OMIM:612896 RDM1 skos:exactMatch ncbigene:201299 semapv:UnspecifiedMatching -OMIM:612897 SEPT1 skos:exactMatch hgnc:SEPTIN1 semapv:UnspecifiedMatching +OMIM:612897 SEPT1 skos:exactMatch hgnc.symbol:2879 semapv:UnspecifiedMatching +OMIM:612897 SEPT1 skos:exactMatch hgnc.symbol:SEPTIN1 semapv:UnspecifiedMatching OMIM:612897 SEPT1 skos:exactMatch ncbigene:1731 semapv:UnspecifiedMatching -OMIM:612898 COQ4 skos:exactMatch hgnc:COQ4 semapv:UnspecifiedMatching +OMIM:612898 COQ4 skos:exactMatch hgnc.symbol:19693 semapv:UnspecifiedMatching +OMIM:612898 COQ4 skos:exactMatch hgnc.symbol:COQ4 semapv:UnspecifiedMatching OMIM:612898 COQ4 skos:exactMatch ncbigene:51117 semapv:UnspecifiedMatching -OMIM:612901 TUBB1 skos:exactMatch hgnc:TUBB1 semapv:UnspecifiedMatching +OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:16257 semapv:UnspecifiedMatching +OMIM:612901 TUBB1 skos:exactMatch hgnc.symbol:TUBB1 semapv:UnspecifiedMatching OMIM:612901 TUBB1 skos:exactMatch ncbigene:81027 semapv:UnspecifiedMatching -OMIM:612902 LCN8 skos:exactMatch hgnc:LCN8 semapv:UnspecifiedMatching +OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:27038 semapv:UnspecifiedMatching +OMIM:612902 LCN8 skos:exactMatch hgnc.symbol:LCN8 semapv:UnspecifiedMatching OMIM:612902 LCN8 skos:exactMatch ncbigene:138307 semapv:UnspecifiedMatching -OMIM:612903 LCN9 skos:exactMatch hgnc:LCN9 semapv:UnspecifiedMatching +OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:17442 semapv:UnspecifiedMatching +OMIM:612903 LCN9 skos:exactMatch hgnc.symbol:LCN9 semapv:UnspecifiedMatching OMIM:612903 LCN9 skos:exactMatch ncbigene:392399 semapv:UnspecifiedMatching -OMIM:612904 LCN10 skos:exactMatch hgnc:LCN10 semapv:UnspecifiedMatching +OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:20892 semapv:UnspecifiedMatching +OMIM:612904 LCN10 skos:exactMatch hgnc.symbol:LCN10 semapv:UnspecifiedMatching OMIM:612904 LCN10 skos:exactMatch ncbigene:414332 semapv:UnspecifiedMatching -OMIM:612905 LCN12 skos:exactMatch hgnc:LCN12 semapv:UnspecifiedMatching +OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:28733 semapv:UnspecifiedMatching +OMIM:612905 LCN12 skos:exactMatch hgnc.symbol:LCN12 semapv:UnspecifiedMatching OMIM:612905 LCN12 skos:exactMatch ncbigene:286256 semapv:UnspecifiedMatching OMIM:612906 RAB32 skos:exactMatch UMLS:C1419201 semapv:UnspecifiedMatching -OMIM:612906 RAB32 skos:exactMatch hgnc:RAB32 semapv:UnspecifiedMatching +OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:9772 semapv:UnspecifiedMatching +OMIM:612906 RAB32 skos:exactMatch hgnc.symbol:RAB32 semapv:UnspecifiedMatching OMIM:612906 RAB32 skos:exactMatch ncbigene:10981 semapv:UnspecifiedMatching -OMIM:612907 TRNT1 skos:exactMatch hgnc:TRNT1 semapv:UnspecifiedMatching +OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:17341 semapv:UnspecifiedMatching +OMIM:612907 TRNT1 skos:exactMatch hgnc.symbol:TRNT1 semapv:UnspecifiedMatching OMIM:612907 TRNT1 skos:exactMatch ncbigene:51095 semapv:UnspecifiedMatching -OMIM:612909 RAB6C skos:exactMatch hgnc:RAB6C semapv:UnspecifiedMatching +OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:16525 semapv:UnspecifiedMatching +OMIM:612909 RAB6C skos:exactMatch hgnc.symbol:RAB6C semapv:UnspecifiedMatching OMIM:612909 RAB6C skos:exactMatch ncbigene:84084 semapv:UnspecifiedMatching -OMIM:612910 PHF23 skos:exactMatch hgnc:PHF23 semapv:UnspecifiedMatching +OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:28428 semapv:UnspecifiedMatching +OMIM:612910 PHF23 skos:exactMatch hgnc.symbol:PHF23 semapv:UnspecifiedMatching OMIM:612910 PHF23 skos:exactMatch ncbigene:79142 semapv:UnspecifiedMatching -OMIM:612911 NDUFAF3 skos:exactMatch hgnc:NDUFAF3 semapv:UnspecifiedMatching +OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:29918 semapv:UnspecifiedMatching +OMIM:612911 NDUFAF3 skos:exactMatch hgnc.symbol:NDUFAF3 semapv:UnspecifiedMatching OMIM:612911 NDUFAF3 skos:exactMatch ncbigene:25915 semapv:UnspecifiedMatching -OMIM:612912 TMEM97 skos:exactMatch hgnc:TMEM97 semapv:UnspecifiedMatching +OMIM:612912 TMEM97 skos:exactMatch hgnc.symbol:28106 semapv:UnspecifiedMatching +OMIM:612912 TMEM97 skos:exactMatch hgnc.symbol:TMEM97 semapv:UnspecifiedMatching OMIM:612912 TMEM97 skos:exactMatch ncbigene:27346 semapv:UnspecifiedMatching -OMIM:612914 MED29 skos:exactMatch hgnc:MED29 semapv:UnspecifiedMatching +OMIM:612914 MED29 skos:exactMatch hgnc.symbol:23074 semapv:UnspecifiedMatching +OMIM:612914 MED29 skos:exactMatch hgnc.symbol:MED29 semapv:UnspecifiedMatching OMIM:612914 MED29 skos:exactMatch ncbigene:55588 semapv:UnspecifiedMatching -OMIM:612915 MED20 skos:exactMatch hgnc:MED20 semapv:UnspecifiedMatching +OMIM:612915 MED20 skos:exactMatch hgnc.symbol:16840 semapv:UnspecifiedMatching +OMIM:612915 MED20 skos:exactMatch hgnc.symbol:MED20 semapv:UnspecifiedMatching OMIM:612915 MED20 skos:exactMatch ncbigene:9477 semapv:UnspecifiedMatching +OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch Orphanet:140944 semapv:UnspecifiedMatching OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch UMLS:C2752042 semapv:UnspecifiedMatching -OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi skos:exactMatch orphanet.ordo:140944 semapv:UnspecifiedMatching -OMIM:612919 LANCL2 skos:exactMatch hgnc:LANCL2 semapv:UnspecifiedMatching +OMIM:612919 LANCL2 skos:exactMatch hgnc.symbol:6509 semapv:UnspecifiedMatching +OMIM:612919 LANCL2 skos:exactMatch hgnc.symbol:LANCL2 semapv:UnspecifiedMatching OMIM:612919 LANCL2 skos:exactMatch ncbigene:55915 semapv:UnspecifiedMatching -OMIM:612920 TSPEAR skos:exactMatch hgnc:TSPEAR semapv:UnspecifiedMatching +OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:1268 semapv:UnspecifiedMatching +OMIM:612920 TSPEAR skos:exactMatch hgnc.symbol:TSPEAR semapv:UnspecifiedMatching OMIM:612920 TSPEAR skos:exactMatch ncbigene:54084 semapv:UnspecifiedMatching -OMIM:612927 AVL9 skos:exactMatch hgnc:AVL9 semapv:UnspecifiedMatching +OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:28994 semapv:UnspecifiedMatching +OMIM:612927 AVL9 skos:exactMatch hgnc.symbol:AVL9 semapv:UnspecifiedMatching OMIM:612927 AVL9 skos:exactMatch ncbigene:23080 semapv:UnspecifiedMatching -OMIM:612928 ISOC2 skos:exactMatch hgnc:ISOC2 semapv:UnspecifiedMatching +OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:26278 semapv:UnspecifiedMatching +OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:ISOC2 semapv:UnspecifiedMatching OMIM:612928 ISOC2 skos:exactMatch ncbigene:79763 semapv:UnspecifiedMatching -OMIM:612930 PID1 skos:exactMatch hgnc:PID1 semapv:UnspecifiedMatching +OMIM:612930 PID1 skos:exactMatch hgnc.symbol:26084 semapv:UnspecifiedMatching +OMIM:612930 PID1 skos:exactMatch hgnc.symbol:PID1 semapv:UnspecifiedMatching OMIM:612930 PID1 skos:exactMatch ncbigene:55022 semapv:UnspecifiedMatching OMIM:612931 PGAM2 skos:exactMatch UMLS:C0268149 semapv:UnspecifiedMatching OMIM:612931 PGAM2 skos:exactMatch UMLS:C1418502 semapv:UnspecifiedMatching -OMIM:612931 PGAM2 skos:exactMatch hgnc:PGAM2 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch hgnc.symbol:8889 semapv:UnspecifiedMatching +OMIM:612931 PGAM2 skos:exactMatch hgnc.symbol:PGAM2 semapv:UnspecifiedMatching OMIM:612931 PGAM2 skos:exactMatch ncbigene:5224 semapv:UnspecifiedMatching -OMIM:612935 MPRIP skos:exactMatch hgnc:MPRIP semapv:UnspecifiedMatching +OMIM:612935 MPRIP skos:exactMatch hgnc.symbol:30321 semapv:UnspecifiedMatching +OMIM:612935 MPRIP skos:exactMatch hgnc.symbol:MPRIP semapv:UnspecifiedMatching OMIM:612935 MPRIP skos:exactMatch ncbigene:23164 semapv:UnspecifiedMatching +OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch Orphanet:263494 semapv:UnspecifiedMatching OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch UMLS:C2752007 semapv:UnspecifiedMatching -OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 skos:exactMatch orphanet.ordo:263494 semapv:UnspecifiedMatching -OMIM:612939 HSPBP1 skos:exactMatch hgnc:HSPBP1 semapv:UnspecifiedMatching +OMIM:612939 HSPBP1 skos:exactMatch hgnc.symbol:24989 semapv:UnspecifiedMatching +OMIM:612939 HSPBP1 skos:exactMatch hgnc.symbol:HSPBP1 semapv:UnspecifiedMatching OMIM:612939 HSPBP1 skos:exactMatch ncbigene:23640 semapv:UnspecifiedMatching -OMIM:612941 PRPF40A skos:exactMatch hgnc:PRPF40A semapv:UnspecifiedMatching +OMIM:612941 PRPF40A skos:exactMatch hgnc.symbol:16463 semapv:UnspecifiedMatching +OMIM:612941 PRPF40A skos:exactMatch hgnc.symbol:PRPF40A semapv:UnspecifiedMatching OMIM:612941 PRPF40A skos:exactMatch ncbigene:55660 semapv:UnspecifiedMatching -OMIM:612942 RAB25 skos:exactMatch hgnc:RAB25 semapv:UnspecifiedMatching +OMIM:612942 RAB25 skos:exactMatch hgnc.symbol:18238 semapv:UnspecifiedMatching +OMIM:612942 RAB25 skos:exactMatch hgnc.symbol:RAB25 semapv:UnspecifiedMatching OMIM:612942 RAB25 skos:exactMatch ncbigene:57111 semapv:UnspecifiedMatching -OMIM:612944 RNASET2 skos:exactMatch hgnc:RNASET2 semapv:UnspecifiedMatching +OMIM:612944 RNASET2 skos:exactMatch hgnc.symbol:21686 semapv:UnspecifiedMatching +OMIM:612944 RNASET2 skos:exactMatch hgnc.symbol:RNASET2 semapv:UnspecifiedMatching OMIM:612944 RNASET2 skos:exactMatch ncbigene:8635 semapv:UnspecifiedMatching -OMIM:612945 RAB4B skos:exactMatch hgnc:RAB4B semapv:UnspecifiedMatching +OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:9782 semapv:UnspecifiedMatching +OMIM:612945 RAB4B skos:exactMatch hgnc.symbol:RAB4B semapv:UnspecifiedMatching OMIM:612945 RAB4B skos:exactMatch ncbigene:53916 semapv:UnspecifiedMatching +OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch Orphanet:353217 semapv:UnspecifiedMatching OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch UMLS:C2751855 semapv:UnspecifiedMatching -OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy skos:exactMatch orphanet.ordo:353217 semapv:UnspecifiedMatching +OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch Orphanet:199340 semapv:UnspecifiedMatching OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch UMLS:C2751831 semapv:UnspecifiedMatching -OMIM:612954 myopathy, myofibrillar, 6 skos:exactMatch orphanet.ordo:199340 semapv:UnspecifiedMatching +OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching -OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch orphanet.ordo:228140 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch UMLS:C1824568 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching -OMIM:612958 TACO1 skos:exactMatch hgnc:TACO1 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:24316 semapv:UnspecifiedMatching +OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:TACO1 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch ncbigene:51204 semapv:UnspecifiedMatching -OMIM:612959 ESRP1 skos:exactMatch hgnc:ESRP1 semapv:UnspecifiedMatching +OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:25966 semapv:UnspecifiedMatching +OMIM:612959 ESRP1 skos:exactMatch hgnc.symbol:ESRP1 semapv:UnspecifiedMatching OMIM:612959 ESRP1 skos:exactMatch ncbigene:54845 semapv:UnspecifiedMatching -OMIM:612960 ESRP2 skos:exactMatch hgnc:ESRP2 semapv:UnspecifiedMatching +OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:26152 semapv:UnspecifiedMatching +OMIM:612960 ESRP2 skos:exactMatch hgnc.symbol:ESRP2 semapv:UnspecifiedMatching OMIM:612960 ESRP2 skos:exactMatch ncbigene:80004 semapv:UnspecifiedMatching +OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch Orphanet:3237 semapv:UnspecifiedMatching OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch UMLS:C2751826 semapv:UnspecifiedMatching -OMIM:612961 multiple synostoses syndrome 3 skos:exactMatch orphanet.ordo:3237 semapv:UnspecifiedMatching -OMIM:612962 DCTN5 skos:exactMatch hgnc:DCTN5 semapv:UnspecifiedMatching +OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:24594 semapv:UnspecifiedMatching +OMIM:612962 DCTN5 skos:exactMatch hgnc.symbol:DCTN5 semapv:UnspecifiedMatching OMIM:612962 DCTN5 skos:exactMatch ncbigene:84516 semapv:UnspecifiedMatching -OMIM:612963 DCTN6 skos:exactMatch hgnc:DCTN6 semapv:UnspecifiedMatching +OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:16964 semapv:UnspecifiedMatching +OMIM:612963 DCTN6 skos:exactMatch hgnc.symbol:DCTN6 semapv:UnspecifiedMatching OMIM:612963 DCTN6 skos:exactMatch ncbigene:10671 semapv:UnspecifiedMatching -OMIM:612966 RAB22A skos:exactMatch hgnc:RAB22A semapv:UnspecifiedMatching +OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:9764 semapv:UnspecifiedMatching +OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:RAB22A semapv:UnspecifiedMatching OMIM:612966 RAB22A skos:exactMatch ncbigene:57403 semapv:UnspecifiedMatching -OMIM:612969 TIGD7 skos:exactMatch hgnc:TIGD7 semapv:UnspecifiedMatching +OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:18331 semapv:UnspecifiedMatching +OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:TIGD7 semapv:UnspecifiedMatching OMIM:612969 TIGD7 skos:exactMatch ncbigene:91151 semapv:UnspecifiedMatching -OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc:NBPF17P semapv:UnspecifiedMatching -OMIM:612971 PDZD7 skos:exactMatch hgnc:PDZD7 semapv:UnspecifiedMatching +OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:31997 semapv:UnspecifiedMatching +OMIM:612970 neuroblastoma breakpoint family, member 17, pseudogene skos:exactMatch hgnc.symbol:NBPF17P semapv:UnspecifiedMatching +OMIM:612971 PDZD7 skos:exactMatch hgnc.symbol:26257 semapv:UnspecifiedMatching +OMIM:612971 PDZD7 skos:exactMatch hgnc.symbol:PDZD7 semapv:UnspecifiedMatching OMIM:612971 PDZD7 skos:exactMatch ncbigene:79955 semapv:UnspecifiedMatching -OMIM:612972 TIGD1 skos:exactMatch hgnc:TIGD1 semapv:UnspecifiedMatching +OMIM:612972 TIGD1 skos:exactMatch hgnc.symbol:14523 semapv:UnspecifiedMatching +OMIM:612972 TIGD1 skos:exactMatch hgnc.symbol:TIGD1 semapv:UnspecifiedMatching OMIM:612972 TIGD1 skos:exactMatch ncbigene:200765 semapv:UnspecifiedMatching -OMIM:612973 TIGD2 skos:exactMatch hgnc:TIGD2 semapv:UnspecifiedMatching +OMIM:612973 TIGD2 skos:exactMatch hgnc.symbol:18333 semapv:UnspecifiedMatching +OMIM:612973 TIGD2 skos:exactMatch hgnc.symbol:TIGD2 semapv:UnspecifiedMatching OMIM:612973 TIGD2 skos:exactMatch ncbigene:166815 semapv:UnspecifiedMatching -OMIM:612974 DEPDC6 skos:exactMatch hgnc:DEPTOR semapv:UnspecifiedMatching +OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:22953 semapv:UnspecifiedMatching +OMIM:612974 DEPDC6 skos:exactMatch hgnc.symbol:DEPTOR semapv:UnspecifiedMatching OMIM:612974 DEPDC6 skos:exactMatch ncbigene:64798 semapv:UnspecifiedMatching OMIM:612975 short sleep, familial natural, 1 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching -OMIM:612977 DCUN1D4 skos:exactMatch hgnc:DCUN1D4 semapv:UnspecifiedMatching +OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:28998 semapv:UnspecifiedMatching +OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:DCUN1D4 semapv:UnspecifiedMatching OMIM:612977 DCUN1D4 skos:exactMatch ncbigene:23142 semapv:UnspecifiedMatching -OMIM:612978 CBLN3 skos:exactMatch hgnc:CBLN3 semapv:UnspecifiedMatching +OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:20146 semapv:UnspecifiedMatching +OMIM:612978 CBLN3 skos:exactMatch hgnc.symbol:CBLN3 semapv:UnspecifiedMatching OMIM:612978 CBLN3 skos:exactMatch ncbigene:643866 semapv:UnspecifiedMatching OMIM:612979 SYS1 skos:exactMatch UMLS:C1823165 semapv:UnspecifiedMatching -OMIM:612979 SYS1 skos:exactMatch hgnc:SYS1 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:16162 semapv:UnspecifiedMatching +OMIM:612979 SYS1 skos:exactMatch hgnc.symbol:SYS1 semapv:UnspecifiedMatching OMIM:612979 SYS1 skos:exactMatch ncbigene:90196 semapv:UnspecifiedMatching OMIM:612980 IMP3 skos:exactMatch UMLS:C1825597 semapv:UnspecifiedMatching -OMIM:612980 IMP3 skos:exactMatch hgnc:IMP3 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:14497 semapv:UnspecifiedMatching +OMIM:612980 IMP3 skos:exactMatch hgnc.symbol:IMP3 semapv:UnspecifiedMatching OMIM:612980 IMP3 skos:exactMatch ncbigene:55272 semapv:UnspecifiedMatching OMIM:612981 IMP4 skos:exactMatch UMLS:C1537406 semapv:UnspecifiedMatching -OMIM:612981 IMP4 skos:exactMatch hgnc:IMP4 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:30856 semapv:UnspecifiedMatching +OMIM:612981 IMP4 skos:exactMatch hgnc.symbol:IMP4 semapv:UnspecifiedMatching OMIM:612981 IMP4 skos:exactMatch ncbigene:92856 semapv:UnspecifiedMatching -OMIM:612982 MIR210 skos:exactMatch hgnc:MIR210 semapv:UnspecifiedMatching +OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:31587 semapv:UnspecifiedMatching +OMIM:612982 MIR210 skos:exactMatch hgnc.symbol:MIR210 semapv:UnspecifiedMatching OMIM:612982 MIR210 skos:exactMatch ncbigene:406992 semapv:UnspecifiedMatching -OMIM:612983 MIR106B skos:exactMatch hgnc:MIR106B semapv:UnspecifiedMatching +OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:31495 semapv:UnspecifiedMatching +OMIM:612983 MIR106B skos:exactMatch hgnc.symbol:MIR106B semapv:UnspecifiedMatching OMIM:612983 MIR106B skos:exactMatch ncbigene:406900 semapv:UnspecifiedMatching -OMIM:612984 MIR93 skos:exactMatch hgnc:MIR93 semapv:UnspecifiedMatching +OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:31645 semapv:UnspecifiedMatching +OMIM:612984 MIR93 skos:exactMatch hgnc.symbol:MIR93 semapv:UnspecifiedMatching OMIM:612984 MIR93 skos:exactMatch ncbigene:407050 semapv:UnspecifiedMatching -OMIM:612985 IRX3 skos:exactMatch hgnc:IRX3 semapv:UnspecifiedMatching +OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:14360 semapv:UnspecifiedMatching +OMIM:612985 IRX3 skos:exactMatch hgnc.symbol:IRX3 semapv:UnspecifiedMatching OMIM:612985 IRX3 skos:exactMatch ncbigene:79191 semapv:UnspecifiedMatching -OMIM:612986 EID3 skos:exactMatch hgnc:EID3 semapv:UnspecifiedMatching +OMIM:612986 EID3 skos:exactMatch hgnc.symbol:32961 semapv:UnspecifiedMatching +OMIM:612986 EID3 skos:exactMatch hgnc.symbol:EID3 semapv:UnspecifiedMatching OMIM:612986 EID3 skos:exactMatch ncbigene:493861 semapv:UnspecifiedMatching OMIM:612987 NSMCE4A skos:exactMatch UMLS:C1826474 semapv:UnspecifiedMatching -OMIM:612987 NSMCE4A skos:exactMatch hgnc:NSMCE4A semapv:UnspecifiedMatching +OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:25935 semapv:UnspecifiedMatching +OMIM:612987 NSMCE4A skos:exactMatch hgnc.symbol:NSMCE4A semapv:UnspecifiedMatching OMIM:612987 NSMCE4A skos:exactMatch ncbigene:54780 semapv:UnspecifiedMatching -OMIM:612988 TMEM126A skos:exactMatch hgnc:TMEM126A semapv:UnspecifiedMatching +OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:25382 semapv:UnspecifiedMatching +OMIM:612988 TMEM126A skos:exactMatch hgnc.symbol:TMEM126A semapv:UnspecifiedMatching OMIM:612988 TMEM126A skos:exactMatch ncbigene:84233 semapv:UnspecifiedMatching OMIM:612990 ASXL1 skos:exactMatch UMLS:C0796232 semapv:UnspecifiedMatching OMIM:612990 ASXL1 skos:exactMatch UMLS:C1425445 semapv:UnspecifiedMatching -OMIM:612990 ASXL1 skos:exactMatch hgnc:ASXL1 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:18318 semapv:UnspecifiedMatching +OMIM:612990 ASXL1 skos:exactMatch hgnc.symbol:ASXL1 semapv:UnspecifiedMatching OMIM:612990 ASXL1 skos:exactMatch ncbigene:171023 semapv:UnspecifiedMatching OMIM:612991 ASXL2 skos:exactMatch UMLS:C1428272 semapv:UnspecifiedMatching OMIM:612991 ASXL2 skos:exactMatch UMLS:C4310672 semapv:UnspecifiedMatching -OMIM:612991 ASXL2 skos:exactMatch hgnc:ASXL2 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:23805 semapv:UnspecifiedMatching +OMIM:612991 ASXL2 skos:exactMatch hgnc.symbol:ASXL2 semapv:UnspecifiedMatching OMIM:612991 ASXL2 skos:exactMatch ncbigene:55252 semapv:UnspecifiedMatching -OMIM:612992 NBPF3 skos:exactMatch hgnc:NBPF3 semapv:UnspecifiedMatching +OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:25076 semapv:UnspecifiedMatching +OMIM:612992 NBPF3 skos:exactMatch hgnc.symbol:NBPF3 semapv:UnspecifiedMatching OMIM:612992 NBPF3 skos:exactMatch ncbigene:84224 semapv:UnspecifiedMatching -OMIM:612993 FILIP1L skos:exactMatch hgnc:FILIP1L semapv:UnspecifiedMatching +OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:24589 semapv:UnspecifiedMatching +OMIM:612993 FILIP1L skos:exactMatch hgnc.symbol:FILIP1L semapv:UnspecifiedMatching OMIM:612993 FILIP1L skos:exactMatch ncbigene:11259 semapv:UnspecifiedMatching -OMIM:612994 RAB28 skos:exactMatch hgnc:RAB28 semapv:UnspecifiedMatching +OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:9768 semapv:UnspecifiedMatching +OMIM:612994 RAB28 skos:exactMatch hgnc.symbol:RAB28 semapv:UnspecifiedMatching OMIM:612994 RAB28 skos:exactMatch ncbigene:9364 semapv:UnspecifiedMatching -OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc:TRV-CAC1-2 semapv:UnspecifiedMatching +OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:12354 semapv:UnspecifiedMatching +OMIM:612995 TRV-CAC1-2 skos:exactMatch hgnc.symbol:TRV-CAC1-2 semapv:UnspecifiedMatching OMIM:612995 TRV-CAC1-2 skos:exactMatch ncbigene:7240 semapv:UnspecifiedMatching OMIM:612996 TRK-CTT2-3 skos:exactMatch UMLS:C1823498 semapv:UnspecifiedMatching -OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc:TRK-CTT2-3 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:33199 semapv:UnspecifiedMatching +OMIM:612996 TRK-CTT2-3 skos:exactMatch hgnc.symbol:TRK-CTT2-3 semapv:UnspecifiedMatching OMIM:612996 TRK-CTT2-3 skos:exactMatch ncbigene:790966 semapv:UnspecifiedMatching +OMIM:612997 spermatogenic failure 7 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:612997 spermatogenic failure 7 skos:exactMatch UMLS:C2751811 semapv:UnspecifiedMatching -OMIM:612997 spermatogenic failure 7 skos:exactMatch orphanet.ordo:276234 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch Orphanet:98853 semapv:UnspecifiedMatching OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch UMLS:C2751805 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch orphanet.ordo:261 semapv:UnspecifiedMatching -OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant skos:exactMatch orphanet.ordo:98853 semapv:UnspecifiedMatching +OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch Orphanet:448264 semapv:UnspecifiedMatching OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C2931923 semapv:UnspecifiedMatching OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch UMLS:C4552049 semapv:UnspecifiedMatching -OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:exactMatch orphanet.ordo:448264 semapv:UnspecifiedMatching OMIM:613004 HTT skos:exactMatch UMLS:C0020179 semapv:UnspecifiedMatching OMIM:613004 HTT skos:exactMatch UMLS:C1415504 semapv:UnspecifiedMatching OMIM:613004 HTT skos:exactMatch UMLS:C4479491 semapv:UnspecifiedMatching -OMIM:613004 HTT skos:exactMatch hgnc:HTT semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch hgnc.symbol:4851 semapv:UnspecifiedMatching +OMIM:613004 HTT skos:exactMatch hgnc.symbol:HTT semapv:UnspecifiedMatching OMIM:613004 HTT skos:exactMatch ncbigene:3064 semapv:UnspecifiedMatching OMIM:613006 iia 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching -OMIM:613009 SEPSECS skos:exactMatch hgnc:SEPSECS semapv:UnspecifiedMatching +OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:30605 semapv:UnspecifiedMatching +OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:SEPSECS semapv:UnspecifiedMatching OMIM:613009 SEPSECS skos:exactMatch ncbigene:51091 semapv:UnspecifiedMatching -OMIM:613010 RFK skos:exactMatch hgnc:RFK semapv:UnspecifiedMatching +OMIM:613010 RFK skos:exactMatch hgnc.symbol:30324 semapv:UnspecifiedMatching +OMIM:613010 RFK skos:exactMatch hgnc.symbol:RFK semapv:UnspecifiedMatching OMIM:613010 RFK skos:exactMatch ncbigene:55312 semapv:UnspecifiedMatching -OMIM:613012 UROC1 skos:exactMatch hgnc:UROC1 semapv:UnspecifiedMatching +OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:26444 semapv:UnspecifiedMatching +OMIM:613012 UROC1 skos:exactMatch hgnc.symbol:UROC1 semapv:UnspecifiedMatching OMIM:613012 UROC1 skos:exactMatch ncbigene:131669 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch UMLS:C1420590 semapv:UnspecifiedMatching -OMIM:613018 TAT skos:exactMatch hgnc:TAT semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch hgnc.symbol:11573 semapv:UnspecifiedMatching +OMIM:613018 TAT skos:exactMatch hgnc.symbol:TAT semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch ncbigene:6898 semapv:UnspecifiedMatching -OMIM:613019 SDHAF2 skos:exactMatch hgnc:SDHAF2 semapv:UnspecifiedMatching +OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:26034 semapv:UnspecifiedMatching +OMIM:613019 SDHAF2 skos:exactMatch hgnc.symbol:SDHAF2 semapv:UnspecifiedMatching OMIM:613019 SDHAF2 skos:exactMatch ncbigene:54949 semapv:UnspecifiedMatching -OMIM:613022 OGDH skos:exactMatch hgnc:OGDH semapv:UnspecifiedMatching +OMIM:613022 OGDH skos:exactMatch hgnc.symbol:8124 semapv:UnspecifiedMatching +OMIM:613022 OGDH skos:exactMatch hgnc.symbol:OGDH semapv:UnspecifiedMatching OMIM:613022 OGDH skos:exactMatch ncbigene:4967 semapv:UnspecifiedMatching -OMIM:613023 CEP170 skos:exactMatch hgnc:CEP170 semapv:UnspecifiedMatching +OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:28920 semapv:UnspecifiedMatching +OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:CEP170 semapv:UnspecifiedMatching OMIM:613023 CEP170 skos:exactMatch ncbigene:9859 semapv:UnspecifiedMatching -OMIM:613036 PMPCA skos:exactMatch hgnc:PMPCA semapv:UnspecifiedMatching +OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:18667 semapv:UnspecifiedMatching +OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:PMPCA semapv:UnspecifiedMatching OMIM:613036 PMPCA skos:exactMatch ncbigene:23203 semapv:UnspecifiedMatching -OMIM:613037 INPP5E skos:exactMatch hgnc:INPP5E semapv:UnspecifiedMatching +OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:21474 semapv:UnspecifiedMatching +OMIM:613037 INPP5E skos:exactMatch hgnc.symbol:INPP5E semapv:UnspecifiedMatching OMIM:613037 INPP5E skos:exactMatch ncbigene:56623 semapv:UnspecifiedMatching -OMIM:613039 CHD1L skos:exactMatch hgnc:CHD1L semapv:UnspecifiedMatching +OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:1916 semapv:UnspecifiedMatching +OMIM:613039 CHD1L skos:exactMatch hgnc.symbol:CHD1L semapv:UnspecifiedMatching OMIM:613039 CHD1L skos:exactMatch ncbigene:9557 semapv:UnspecifiedMatching -OMIM:613040 CCDC26 skos:exactMatch hgnc:CCDC26 semapv:UnspecifiedMatching +OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:28416 semapv:UnspecifiedMatching +OMIM:613040 CCDC26 skos:exactMatch hgnc.symbol:CCDC26 semapv:UnspecifiedMatching OMIM:613040 CCDC26 skos:exactMatch ncbigene:137196 semapv:UnspecifiedMatching -OMIM:613041 FAM90A1 skos:exactMatch hgnc:FAM90A1 semapv:UnspecifiedMatching +OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:25526 semapv:UnspecifiedMatching +OMIM:613041 FAM90A1 skos:exactMatch hgnc.symbol:FAM90A1 semapv:UnspecifiedMatching OMIM:613041 FAM90A1 skos:exactMatch ncbigene:55138 semapv:UnspecifiedMatching -OMIM:613042 FAM90A3 skos:exactMatch hgnc:FAM90A3 semapv:UnspecifiedMatching +OMIM:613042 FAM90A3 skos:exactMatch hgnc.symbol:FAM90A3 semapv:UnspecifiedMatching OMIM:613042 FAM90A3 skos:exactMatch ncbigene:389611 semapv:UnspecifiedMatching -OMIM:613043 FAM90A5 skos:exactMatch hgnc:FAM90A5 semapv:UnspecifiedMatching +OMIM:613043 FAM90A5 skos:exactMatch hgnc.symbol:FAM90A5 semapv:UnspecifiedMatching OMIM:613043 FAM90A5 skos:exactMatch ncbigene:441315 semapv:UnspecifiedMatching -OMIM:613044 FAM90A7 skos:exactMatch hgnc:FAM90A7 semapv:UnspecifiedMatching +OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:32255 semapv:UnspecifiedMatching +OMIM:613044 FAM90A7 skos:exactMatch hgnc.symbol:FAM90A7 semapv:UnspecifiedMatching OMIM:613044 FAM90A7 skos:exactMatch ncbigene:441317 semapv:UnspecifiedMatching -OMIM:613045 FAM90A8 skos:exactMatch hgnc:FAM90A8 semapv:UnspecifiedMatching +OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:32256 semapv:UnspecifiedMatching +OMIM:613045 FAM90A8 skos:exactMatch hgnc.symbol:FAM90A8 semapv:UnspecifiedMatching OMIM:613045 FAM90A8 skos:exactMatch ncbigene:441324 semapv:UnspecifiedMatching -OMIM:613046 FAM90A9 skos:exactMatch hgnc:FAM90A9 semapv:UnspecifiedMatching +OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:32257 semapv:UnspecifiedMatching +OMIM:613046 FAM90A9 skos:exactMatch hgnc.symbol:FAM90A9 semapv:UnspecifiedMatching OMIM:613046 FAM90A9 skos:exactMatch ncbigene:441327 semapv:UnspecifiedMatching -OMIM:613047 FAM90A10 skos:exactMatch hgnc:FAM90A10 semapv:UnspecifiedMatching +OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:32258 semapv:UnspecifiedMatching +OMIM:613047 FAM90A10 skos:exactMatch hgnc.symbol:FAM90A10 semapv:UnspecifiedMatching OMIM:613047 FAM90A10 skos:exactMatch ncbigene:441328 semapv:UnspecifiedMatching -OMIM:613048 FAM90A12 skos:exactMatch hgnc:FAM90A12 semapv:UnspecifiedMatching +OMIM:613048 FAM90A12 skos:exactMatch hgnc.symbol:FAM90A12 semapv:UnspecifiedMatching OMIM:613048 FAM90A12 skos:exactMatch ncbigene:645879 semapv:UnspecifiedMatching -OMIM:613049 FAM90A13 skos:exactMatch hgnc:FAM90A13 semapv:UnspecifiedMatching +OMIM:613049 FAM90A13 skos:exactMatch hgnc.symbol:FAM90A13 semapv:UnspecifiedMatching OMIM:613049 FAM90A13 skos:exactMatch ncbigene:441314 semapv:UnspecifiedMatching -OMIM:613050 FAM90A14 skos:exactMatch hgnc:FAM90A14 semapv:UnspecifiedMatching +OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:32262 semapv:UnspecifiedMatching +OMIM:613050 FAM90A14 skos:exactMatch hgnc.symbol:FAM90A14 semapv:UnspecifiedMatching OMIM:613050 FAM90A14 skos:exactMatch ncbigene:645651 semapv:UnspecifiedMatching -OMIM:613051 FAM90A15 skos:exactMatch hgnc:FAM90A15 semapv:UnspecifiedMatching +OMIM:613051 FAM90A15 skos:exactMatch hgnc.symbol:FAM90A15 semapv:UnspecifiedMatching OMIM:613051 FAM90A15 skos:exactMatch ncbigene:389630 semapv:UnspecifiedMatching -OMIM:613052 FAM90A18 skos:exactMatch hgnc:FAM90A18 semapv:UnspecifiedMatching +OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:32266 semapv:UnspecifiedMatching +OMIM:613052 FAM90A18 skos:exactMatch hgnc.symbol:FAM90A18 semapv:UnspecifiedMatching OMIM:613052 FAM90A18 skos:exactMatch ncbigene:441326 semapv:UnspecifiedMatching -OMIM:613053 FAM90A19 skos:exactMatch hgnc:FAM90A19 semapv:UnspecifiedMatching +OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:32267 semapv:UnspecifiedMatching +OMIM:613053 FAM90A19 skos:exactMatch hgnc.symbol:FAM90A19 semapv:UnspecifiedMatching OMIM:613053 FAM90A19 skos:exactMatch ncbigene:728753 semapv:UnspecifiedMatching -OMIM:613054 FAM90A20 skos:exactMatch hgnc:FAM90A20 semapv:UnspecifiedMatching +OMIM:613054 FAM90A20 skos:exactMatch hgnc.symbol:FAM90A20 semapv:UnspecifiedMatching OMIM:613054 FAM90A20 skos:exactMatch ncbigene:728430 semapv:UnspecifiedMatching OMIM:613056 LUC7L2 skos:exactMatch UMLS:C1427644 semapv:UnspecifiedMatching -OMIM:613056 LUC7L2 skos:exactMatch hgnc:LUC7L2 semapv:UnspecifiedMatching +OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:21608 semapv:UnspecifiedMatching +OMIM:613056 LUC7L2 skos:exactMatch hgnc.symbol:LUC7L2 semapv:UnspecifiedMatching OMIM:613056 LUC7L2 skos:exactMatch ncbigene:51631 semapv:UnspecifiedMatching -OMIM:613057 MIR26A2 skos:exactMatch hgnc:MIR26A2 semapv:UnspecifiedMatching +OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:31611 semapv:UnspecifiedMatching +OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:MIR26A2 semapv:UnspecifiedMatching OMIM:613057 MIR26A2 skos:exactMatch ncbigene:407016 semapv:UnspecifiedMatching -OMIM:613066 PKNOX2 skos:exactMatch hgnc:PKNOX2 semapv:UnspecifiedMatching +OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:16714 semapv:UnspecifiedMatching +OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:PKNOX2 semapv:UnspecifiedMatching OMIM:613066 PKNOX2 skos:exactMatch ncbigene:63876 semapv:UnspecifiedMatching +OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching -OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch orphanet.ordo:217382 semapv:UnspecifiedMatching -OMIM:613069 PHF10 skos:exactMatch hgnc:PHF10 semapv:UnspecifiedMatching +OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:18250 semapv:UnspecifiedMatching +OMIM:613069 PHF10 skos:exactMatch hgnc.symbol:PHF10 semapv:UnspecifiedMatching OMIM:613069 PHF10 skos:exactMatch ncbigene:55274 semapv:UnspecifiedMatching -OMIM:613072 LOXHD1 skos:exactMatch hgnc:LOXHD1 semapv:UnspecifiedMatching +OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:26521 semapv:UnspecifiedMatching +OMIM:613072 LOXHD1 skos:exactMatch hgnc.symbol:LOXHD1 semapv:UnspecifiedMatching OMIM:613072 LOXHD1 skos:exactMatch ncbigene:125336 semapv:UnspecifiedMatching +OMIM:613075 macs syndrome skos:exactMatch Orphanet:217335 semapv:UnspecifiedMatching OMIM:613075 macs syndrome skos:exactMatch UMLS:C2751321 semapv:UnspecifiedMatching -OMIM:613075 macs syndrome skos:exactMatch orphanet.ordo:217335 semapv:UnspecifiedMatching +OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch Orphanet:330054 semapv:UnspecifiedMatching OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch UMLS:C2751320 semapv:UnspecifiedMatching -OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay skos:exactMatch orphanet.ordo:330054 semapv:UnspecifiedMatching +OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch Orphanet:254892 semapv:UnspecifiedMatching OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch UMLS:C2751319 semapv:UnspecifiedMatching -OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch orphanet.ordo:254892 semapv:UnspecifiedMatching -OMIM:613081 KDM1B skos:exactMatch hgnc:KDM1B semapv:UnspecifiedMatching +OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:21577 semapv:UnspecifiedMatching +OMIM:613081 KDM1B skos:exactMatch hgnc.symbol:KDM1B semapv:UnspecifiedMatching OMIM:613081 KDM1B skos:exactMatch ncbigene:221656 semapv:UnspecifiedMatching OMIM:613082 ATP2C2 skos:exactMatch UMLS:C1825505 semapv:UnspecifiedMatching -OMIM:613082 ATP2C2 skos:exactMatch hgnc:ATP2C2 semapv:UnspecifiedMatching +OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:29103 semapv:UnspecifiedMatching +OMIM:613082 ATP2C2 skos:exactMatch hgnc.symbol:ATP2C2 semapv:UnspecifiedMatching OMIM:613082 ATP2C2 skos:exactMatch ncbigene:9914 semapv:UnspecifiedMatching -OMIM:613083 LTN1 skos:exactMatch hgnc:LTN1 semapv:UnspecifiedMatching +OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:13082 semapv:UnspecifiedMatching +OMIM:613083 LTN1 skos:exactMatch hgnc.symbol:LTN1 semapv:UnspecifiedMatching OMIM:613083 LTN1 skos:exactMatch ncbigene:26046 semapv:UnspecifiedMatching -OMIM:613084 MYT1L skos:exactMatch hgnc:MYT1L semapv:UnspecifiedMatching +OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:7623 semapv:UnspecifiedMatching +OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:MYT1L semapv:UnspecifiedMatching OMIM:613084 MYT1L skos:exactMatch ncbigene:23040 semapv:UnspecifiedMatching +OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch UMLS:C2751293 semapv:UnspecifiedMatching -OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch orphanet.ordo:540 semapv:UnspecifiedMatching -OMIM:613103 SRRM4 skos:exactMatch hgnc:SRRM4 semapv:UnspecifiedMatching +OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:29389 semapv:UnspecifiedMatching +OMIM:613103 SRRM4 skos:exactMatch hgnc.symbol:SRRM4 semapv:UnspecifiedMatching OMIM:613103 SRRM4 skos:exactMatch ncbigene:84530 semapv:UnspecifiedMatching -OMIM:613104 CACFD1 skos:exactMatch hgnc:CACFD1 semapv:UnspecifiedMatching +OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:1365 semapv:UnspecifiedMatching +OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:CACFD1 semapv:UnspecifiedMatching OMIM:613104 CACFD1 skos:exactMatch ncbigene:11094 semapv:UnspecifiedMatching +OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching -OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch orphanet.ordo:486 semapv:UnspecifiedMatching -OMIM:613109 GM2A skos:exactMatch hgnc:GM2A semapv:UnspecifiedMatching +OMIM:613109 GM2A skos:exactMatch hgnc.symbol:4367 semapv:UnspecifiedMatching +OMIM:613109 GM2A skos:exactMatch hgnc.symbol:GM2A semapv:UnspecifiedMatching OMIM:613109 GM2A skos:exactMatch ncbigene:2760 semapv:UnspecifiedMatching -OMIM:613110 BLCAP skos:exactMatch hgnc:BLCAP semapv:UnspecifiedMatching +OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:1055 semapv:UnspecifiedMatching +OMIM:613110 BLCAP skos:exactMatch hgnc.symbol:BLCAP semapv:UnspecifiedMatching OMIM:613110 BLCAP skos:exactMatch ncbigene:10904 semapv:UnspecifiedMatching -OMIM:613111 CTSA skos:exactMatch hgnc:CTSA semapv:UnspecifiedMatching +OMIM:613111 CTSA skos:exactMatch hgnc.symbol:9251 semapv:UnspecifiedMatching +OMIM:613111 CTSA skos:exactMatch hgnc.symbol:CTSA semapv:UnspecifiedMatching OMIM:613111 CTSA skos:exactMatch ncbigene:5476 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C0085113 semapv:UnspecifiedMatching @@ -33186,659 +46375,932 @@ OMIM:613113 NF1 skos:exactMatch UMLS:C0553586 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C1834235 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch UMLS:C4225458 semapv:UnspecifiedMatching -OMIM:613113 NF1 skos:exactMatch hgnc:NF1 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch hgnc.symbol:7765 semapv:UnspecifiedMatching +OMIM:613113 NF1 skos:exactMatch hgnc.symbol:NF1 semapv:UnspecifiedMatching OMIM:613113 NF1 skos:exactMatch ncbigene:4763 semapv:UnspecifiedMatching -OMIM:613114 RETREG1 skos:exactMatch hgnc:RETREG1 semapv:UnspecifiedMatching +OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:25964 semapv:UnspecifiedMatching +OMIM:613114 RETREG1 skos:exactMatch hgnc.symbol:RETREG1 semapv:UnspecifiedMatching OMIM:613114 RETREG1 skos:exactMatch ncbigene:54463 semapv:UnspecifiedMatching -OMIM:613117 SNORD50A skos:exactMatch hgnc:SNORD50A semapv:UnspecifiedMatching +OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:10200 semapv:UnspecifiedMatching +OMIM:613117 SNORD50A skos:exactMatch hgnc.symbol:SNORD50A semapv:UnspecifiedMatching OMIM:613117 SNORD50A skos:exactMatch ncbigene:26799 semapv:UnspecifiedMatching -OMIM:613121 NEXN skos:exactMatch hgnc:NEXN semapv:UnspecifiedMatching +OMIM:613121 NEXN skos:exactMatch hgnc.symbol:29557 semapv:UnspecifiedMatching +OMIM:613121 NEXN skos:exactMatch hgnc.symbol:NEXN semapv:UnspecifiedMatching OMIM:613121 NEXN skos:exactMatch ncbigene:91624 semapv:UnspecifiedMatching -OMIM:613125 NRIP3 skos:exactMatch hgnc:NRIP3 semapv:UnspecifiedMatching +OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:1167 semapv:UnspecifiedMatching +OMIM:613125 NRIP3 skos:exactMatch hgnc.symbol:NRIP3 semapv:UnspecifiedMatching OMIM:613125 NRIP3 skos:exactMatch ncbigene:56675 semapv:UnspecifiedMatching -OMIM:613126 PSRC1 skos:exactMatch hgnc:PSRC1 semapv:UnspecifiedMatching +OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:24472 semapv:UnspecifiedMatching +OMIM:613126 PSRC1 skos:exactMatch hgnc.symbol:PSRC1 semapv:UnspecifiedMatching OMIM:613126 PSRC1 skos:exactMatch ncbigene:84722 semapv:UnspecifiedMatching -OMIM:613127 CHRDL2 skos:exactMatch hgnc:CHRDL2 semapv:UnspecifiedMatching +OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:24168 semapv:UnspecifiedMatching +OMIM:613127 CHRDL2 skos:exactMatch hgnc.symbol:CHRDL2 semapv:UnspecifiedMatching OMIM:613127 CHRDL2 skos:exactMatch ncbigene:25884 semapv:UnspecifiedMatching OMIM:613128 STN1 skos:exactMatch UMLS:C1428560 semapv:UnspecifiedMatching OMIM:613128 STN1 skos:exactMatch UMLS:C4479220 semapv:UnspecifiedMatching -OMIM:613128 STN1 skos:exactMatch hgnc:STN1 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch hgnc.symbol:26200 semapv:UnspecifiedMatching +OMIM:613128 STN1 skos:exactMatch hgnc.symbol:STN1 semapv:UnspecifiedMatching OMIM:613128 STN1 skos:exactMatch ncbigene:79991 semapv:UnspecifiedMatching OMIM:613129 CTC1 skos:exactMatch UMLS:C1824460 semapv:UnspecifiedMatching OMIM:613129 CTC1 skos:exactMatch UMLS:C4552029 semapv:UnspecifiedMatching -OMIM:613129 CTC1 skos:exactMatch hgnc:CTC1 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:26169 semapv:UnspecifiedMatching +OMIM:613129 CTC1 skos:exactMatch hgnc.symbol:CTC1 semapv:UnspecifiedMatching OMIM:613129 CTC1 skos:exactMatch ncbigene:80169 semapv:UnspecifiedMatching OMIM:613130 TEN1 skos:exactMatch UMLS:C2751072 semapv:UnspecifiedMatching -OMIM:613130 TEN1 skos:exactMatch hgnc:TEN1 semapv:UnspecifiedMatching +OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:37242 semapv:UnspecifiedMatching +OMIM:613130 TEN1 skos:exactMatch hgnc.symbol:TEN1 semapv:UnspecifiedMatching OMIM:613130 TEN1 skos:exactMatch ncbigene:100134934 semapv:UnspecifiedMatching -OMIM:613131 MIR449A skos:exactMatch hgnc:MIR449A semapv:UnspecifiedMatching +OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:27645 semapv:UnspecifiedMatching +OMIM:613131 MIR449A skos:exactMatch hgnc.symbol:MIR449A semapv:UnspecifiedMatching OMIM:613131 MIR449A skos:exactMatch ncbigene:554213 semapv:UnspecifiedMatching -OMIM:613132 MIR449B skos:exactMatch hgnc:MIR449B semapv:UnspecifiedMatching +OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:32794 semapv:UnspecifiedMatching +OMIM:613132 MIR449B skos:exactMatch hgnc.symbol:MIR449B semapv:UnspecifiedMatching OMIM:613132 MIR449B skos:exactMatch ncbigene:693123 semapv:UnspecifiedMatching -OMIM:613133 TSPAN2 skos:exactMatch hgnc:TSPAN2 semapv:UnspecifiedMatching +OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:20659 semapv:UnspecifiedMatching +OMIM:613133 TSPAN2 skos:exactMatch hgnc.symbol:TSPAN2 semapv:UnspecifiedMatching OMIM:613133 TSPAN2 skos:exactMatch ncbigene:10100 semapv:UnspecifiedMatching -OMIM:613134 TSPAN3 skos:exactMatch hgnc:TSPAN3 semapv:UnspecifiedMatching +OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:17752 semapv:UnspecifiedMatching +OMIM:613134 TSPAN3 skos:exactMatch hgnc.symbol:TSPAN3 semapv:UnspecifiedMatching OMIM:613134 TSPAN3 skos:exactMatch ncbigene:10099 semapv:UnspecifiedMatching -OMIM:613136 TSPAN5 skos:exactMatch hgnc:TSPAN5 semapv:UnspecifiedMatching +OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:17753 semapv:UnspecifiedMatching +OMIM:613136 TSPAN5 skos:exactMatch hgnc.symbol:TSPAN5 semapv:UnspecifiedMatching OMIM:613136 TSPAN5 skos:exactMatch ncbigene:10098 semapv:UnspecifiedMatching -OMIM:613137 TSPAN9 skos:exactMatch hgnc:TSPAN9 semapv:UnspecifiedMatching +OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:21640 semapv:UnspecifiedMatching +OMIM:613137 TSPAN9 skos:exactMatch hgnc.symbol:TSPAN9 semapv:UnspecifiedMatching OMIM:613137 TSPAN9 skos:exactMatch ncbigene:10867 semapv:UnspecifiedMatching -OMIM:613138 TSPAN12 skos:exactMatch hgnc:TSPAN12 semapv:UnspecifiedMatching +OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:21641 semapv:UnspecifiedMatching +OMIM:613138 TSPAN12 skos:exactMatch hgnc.symbol:TSPAN12 semapv:UnspecifiedMatching OMIM:613138 TSPAN12 skos:exactMatch ncbigene:23554 semapv:UnspecifiedMatching -OMIM:613139 TSPAN13 skos:exactMatch hgnc:TSPAN13 semapv:UnspecifiedMatching +OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:21643 semapv:UnspecifiedMatching +OMIM:613139 TSPAN13 skos:exactMatch hgnc.symbol:TSPAN13 semapv:UnspecifiedMatching OMIM:613139 TSPAN13 skos:exactMatch ncbigene:27075 semapv:UnspecifiedMatching -OMIM:613140 TSPAN15 skos:exactMatch hgnc:TSPAN15 semapv:UnspecifiedMatching +OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:23298 semapv:UnspecifiedMatching +OMIM:613140 TSPAN15 skos:exactMatch hgnc.symbol:TSPAN15 semapv:UnspecifiedMatching OMIM:613140 TSPAN15 skos:exactMatch ncbigene:23555 semapv:UnspecifiedMatching OMIM:613141 DTX2 skos:exactMatch UMLS:C1423876 semapv:UnspecifiedMatching -OMIM:613141 DTX2 skos:exactMatch hgnc:DTX2 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:15973 semapv:UnspecifiedMatching +OMIM:613141 DTX2 skos:exactMatch hgnc.symbol:DTX2 semapv:UnspecifiedMatching OMIM:613141 DTX2 skos:exactMatch ncbigene:113878 semapv:UnspecifiedMatching OMIM:613142 DTX3 skos:exactMatch UMLS:C1428375 semapv:UnspecifiedMatching -OMIM:613142 DTX3 skos:exactMatch hgnc:DTX3 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:24457 semapv:UnspecifiedMatching +OMIM:613142 DTX3 skos:exactMatch hgnc.symbol:DTX3 semapv:UnspecifiedMatching OMIM:613142 DTX3 skos:exactMatch ncbigene:196403 semapv:UnspecifiedMatching OMIM:613143 DTX3L skos:exactMatch UMLS:C1539313 semapv:UnspecifiedMatching -OMIM:613143 DTX3L skos:exactMatch hgnc:DTX3L semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:30323 semapv:UnspecifiedMatching +OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:DTX3L semapv:UnspecifiedMatching OMIM:613143 DTX3L skos:exactMatch ncbigene:151636 semapv:UnspecifiedMatching -OMIM:613146 MIR184 skos:exactMatch hgnc:MIR184 semapv:UnspecifiedMatching +OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:31555 semapv:UnspecifiedMatching +OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:MIR184 semapv:UnspecifiedMatching OMIM:613146 MIR184 skos:exactMatch ncbigene:406960 semapv:UnspecifiedMatching -OMIM:613147 MIR205 skos:exactMatch hgnc:MIR205 semapv:UnspecifiedMatching +OMIM:613147 MIR205 skos:exactMatch hgnc.symbol:31583 semapv:UnspecifiedMatching +OMIM:613147 MIR205 skos:exactMatch hgnc.symbol:MIR205 semapv:UnspecifiedMatching OMIM:613147 MIR205 skos:exactMatch ncbigene:406988 semapv:UnspecifiedMatching -OMIM:613149 CDKN2BAS skos:exactMatch hgnc:CDKN2B-AS1 semapv:UnspecifiedMatching +OMIM:613149 CDKN2BAS skos:exactMatch hgnc.symbol:34341 semapv:UnspecifiedMatching +OMIM:613149 CDKN2BAS skos:exactMatch hgnc.symbol:CDKN2B-AS1 semapv:UnspecifiedMatching OMIM:613149 CDKN2BAS skos:exactMatch ncbigene:100048912 semapv:UnspecifiedMatching +OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch UMLS:C3150411 semapv:UnspecifiedMatching -OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch orphanet.ordo:588 semapv:UnspecifiedMatching -OMIM:613150 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 skos:exactMatch orphanet.ordo:899 semapv:UnspecifiedMatching +OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch UMLS:C3150412 semapv:UnspecifiedMatching -OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 skos:exactMatch orphanet.ordo:370959 semapv:UnspecifiedMatching +OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch UMLS:C2751052 semapv:UnspecifiedMatching -OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 skos:exactMatch orphanet.ordo:370980 semapv:UnspecifiedMatching +OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch UMLS:C3150413 semapv:UnspecifiedMatching -OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch orphanet.ordo:588 semapv:UnspecifiedMatching -OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 skos:exactMatch orphanet.ordo:899 semapv:UnspecifiedMatching +OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching +OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch UMLS:C3150414 semapv:UnspecifiedMatching -OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch orphanet.ordo:588 semapv:UnspecifiedMatching -OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 skos:exactMatch orphanet.ordo:899 semapv:UnspecifiedMatching +OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch UMLS:C3150415 semapv:UnspecifiedMatching -OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch orphanet.ordo:370959 semapv:UnspecifiedMatching -OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 skos:exactMatch orphanet.ordo:370968 semapv:UnspecifiedMatching +OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch UMLS:C3150416 semapv:UnspecifiedMatching -OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch orphanet.ordo:370959 semapv:UnspecifiedMatching -OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 skos:exactMatch orphanet.ordo:370968 semapv:UnspecifiedMatching +OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch Orphanet:206564 semapv:UnspecifiedMatching OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch UMLS:C3150417 semapv:UnspecifiedMatching -OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 skos:exactMatch orphanet.ordo:206564 semapv:UnspecifiedMatching +OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch Orphanet:206559 semapv:UnspecifiedMatching OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch UMLS:C3150418 semapv:UnspecifiedMatching -OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 skos:exactMatch orphanet.ordo:206559 semapv:UnspecifiedMatching -OMIM:613160 VWF skos:exactMatch hgnc:VWF semapv:UnspecifiedMatching +OMIM:613160 VWF skos:exactMatch hgnc.symbol:12726 semapv:UnspecifiedMatching +OMIM:613160 VWF skos:exactMatch hgnc.symbol:VWF semapv:UnspecifiedMatching OMIM:613160 VWF skos:exactMatch ncbigene:7450 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C1538435 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C4017299 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C4540251 semapv:UnspecifiedMatching -OMIM:613165 CANT1 skos:exactMatch hgnc:CANT1 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch hgnc.symbol:19721 semapv:UnspecifiedMatching +OMIM:613165 CANT1 skos:exactMatch hgnc.symbol:CANT1 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch ncbigene:124583 semapv:UnspecifiedMatching -OMIM:613166 DCLK2 skos:exactMatch hgnc:DCLK2 semapv:UnspecifiedMatching +OMIM:613166 DCLK2 skos:exactMatch hgnc.symbol:19002 semapv:UnspecifiedMatching +OMIM:613166 DCLK2 skos:exactMatch hgnc.symbol:DCLK2 semapv:UnspecifiedMatching OMIM:613166 DCLK2 skos:exactMatch ncbigene:166614 semapv:UnspecifiedMatching -OMIM:613167 DCLK3 skos:exactMatch hgnc:DCLK3 semapv:UnspecifiedMatching +OMIM:613167 DCLK3 skos:exactMatch hgnc.symbol:19005 semapv:UnspecifiedMatching +OMIM:613167 DCLK3 skos:exactMatch hgnc.symbol:DCLK3 semapv:UnspecifiedMatching OMIM:613167 DCLK3 skos:exactMatch ncbigene:85443 semapv:UnspecifiedMatching -OMIM:613168 SERPINF2 skos:exactMatch hgnc:SERPINF2 semapv:UnspecifiedMatching +OMIM:613168 SERPINF2 skos:exactMatch hgnc.symbol:9075 semapv:UnspecifiedMatching +OMIM:613168 SERPINF2 skos:exactMatch hgnc.symbol:SERPINF2 semapv:UnspecifiedMatching OMIM:613168 SERPINF2 skos:exactMatch ncbigene:5345 semapv:UnspecifiedMatching -OMIM:613169 KLHDC8B skos:exactMatch hgnc:KLHDC8B semapv:UnspecifiedMatching +OMIM:613169 KLHDC8B skos:exactMatch hgnc.symbol:28557 semapv:UnspecifiedMatching +OMIM:613169 KLHDC8B skos:exactMatch hgnc.symbol:KLHDC8B semapv:UnspecifiedMatching OMIM:613169 KLHDC8B skos:exactMatch ncbigene:200942 semapv:UnspecifiedMatching -OMIM:613170 TSPAN1 skos:exactMatch hgnc:TSPAN1 semapv:UnspecifiedMatching +OMIM:613170 TSPAN1 skos:exactMatch hgnc.symbol:20657 semapv:UnspecifiedMatching +OMIM:613170 TSPAN1 skos:exactMatch hgnc.symbol:TSPAN1 semapv:UnspecifiedMatching OMIM:613170 TSPAN1 skos:exactMatch ncbigene:10103 semapv:UnspecifiedMatching -OMIM:613171 RBM20 skos:exactMatch hgnc:RBM20 semapv:UnspecifiedMatching +OMIM:613171 RBM20 skos:exactMatch hgnc.symbol:27424 semapv:UnspecifiedMatching +OMIM:613171 RBM20 skos:exactMatch hgnc.symbol:RBM20 semapv:UnspecifiedMatching OMIM:613171 RBM20 skos:exactMatch ncbigene:282996 semapv:UnspecifiedMatching -OMIM:613173 NEGR1 skos:exactMatch hgnc:NEGR1 semapv:UnspecifiedMatching +OMIM:613173 NEGR1 skos:exactMatch hgnc.symbol:17302 semapv:UnspecifiedMatching +OMIM:613173 NEGR1 skos:exactMatch hgnc.symbol:NEGR1 semapv:UnspecifiedMatching OMIM:613173 NEGR1 skos:exactMatch ncbigene:257194 semapv:UnspecifiedMatching OMIM:613175 SMG8 skos:exactMatch UMLS:C1824463 semapv:UnspecifiedMatching -OMIM:613175 SMG8 skos:exactMatch hgnc:SMG8 semapv:UnspecifiedMatching +OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:25551 semapv:UnspecifiedMatching +OMIM:613175 SMG8 skos:exactMatch hgnc.symbol:SMG8 semapv:UnspecifiedMatching OMIM:613175 SMG8 skos:exactMatch ncbigene:55181 semapv:UnspecifiedMatching -OMIM:613176 SMG9 skos:exactMatch hgnc:SMG9 semapv:UnspecifiedMatching +OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:25763 semapv:UnspecifiedMatching +OMIM:613176 SMG9 skos:exactMatch hgnc.symbol:SMG9 semapv:UnspecifiedMatching OMIM:613176 SMG9 skos:exactMatch ncbigene:56006 semapv:UnspecifiedMatching -OMIM:613178 CTIF skos:exactMatch hgnc:CTIF semapv:UnspecifiedMatching +OMIM:613178 CTIF skos:exactMatch hgnc.symbol:23925 semapv:UnspecifiedMatching +OMIM:613178 CTIF skos:exactMatch hgnc.symbol:CTIF semapv:UnspecifiedMatching OMIM:613178 CTIF skos:exactMatch ncbigene:9811 semapv:UnspecifiedMatching -OMIM:613181 BOLA1 skos:exactMatch hgnc:BOLA1 semapv:UnspecifiedMatching +OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:24263 semapv:UnspecifiedMatching +OMIM:613181 BOLA1 skos:exactMatch hgnc.symbol:BOLA1 semapv:UnspecifiedMatching OMIM:613181 BOLA1 skos:exactMatch ncbigene:51027 semapv:UnspecifiedMatching -OMIM:613182 BOLA2 skos:exactMatch hgnc:BOLA2 semapv:UnspecifiedMatching +OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:29488 semapv:UnspecifiedMatching +OMIM:613182 BOLA2 skos:exactMatch hgnc.symbol:BOLA2 semapv:UnspecifiedMatching OMIM:613182 BOLA2 skos:exactMatch ncbigene:552900 semapv:UnspecifiedMatching OMIM:613183 BOLA3 skos:exactMatch UMLS:C1826629 semapv:UnspecifiedMatching OMIM:613183 BOLA3 skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching -OMIM:613183 BOLA3 skos:exactMatch hgnc:BOLA3 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:24415 semapv:UnspecifiedMatching +OMIM:613183 BOLA3 skos:exactMatch hgnc.symbol:BOLA3 semapv:UnspecifiedMatching OMIM:613183 BOLA3 skos:exactMatch ncbigene:388962 semapv:UnspecifiedMatching -OMIM:613184 TRIM68 skos:exactMatch hgnc:TRIM68 semapv:UnspecifiedMatching +OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:21161 semapv:UnspecifiedMatching +OMIM:613184 TRIM68 skos:exactMatch hgnc.symbol:TRIM68 semapv:UnspecifiedMatching OMIM:613184 TRIM68 skos:exactMatch ncbigene:55128 semapv:UnspecifiedMatching -OMIM:613185 MIR95 skos:exactMatch hgnc:MIR95 semapv:UnspecifiedMatching +OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:31647 semapv:UnspecifiedMatching +OMIM:613185 MIR95 skos:exactMatch hgnc.symbol:MIR95 semapv:UnspecifiedMatching OMIM:613185 MIR95 skos:exactMatch ncbigene:407052 semapv:UnspecifiedMatching -OMIM:613186 MIR100 skos:exactMatch hgnc:MIR100 semapv:UnspecifiedMatching +OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:31487 semapv:UnspecifiedMatching +OMIM:613186 MIR100 skos:exactMatch hgnc.symbol:MIR100 semapv:UnspecifiedMatching OMIM:613186 MIR100 skos:exactMatch ncbigene:406892 semapv:UnspecifiedMatching -OMIM:613187 MIR103-1 skos:exactMatch hgnc:MIR103A1 semapv:UnspecifiedMatching +OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:31490 semapv:UnspecifiedMatching +OMIM:613187 MIR103-1 skos:exactMatch hgnc.symbol:MIR103A1 semapv:UnspecifiedMatching OMIM:613187 MIR103-1 skos:exactMatch ncbigene:406895 semapv:UnspecifiedMatching -OMIM:613188 MIR103-2 skos:exactMatch hgnc:MIR103A2 semapv:UnspecifiedMatching +OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:31491 semapv:UnspecifiedMatching +OMIM:613188 MIR103-2 skos:exactMatch hgnc.symbol:MIR103A2 semapv:UnspecifiedMatching OMIM:613188 MIR103-2 skos:exactMatch ncbigene:406896 semapv:UnspecifiedMatching -OMIM:613189 MIR107 skos:exactMatch hgnc:MIR107 semapv:UnspecifiedMatching +OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:31496 semapv:UnspecifiedMatching +OMIM:613189 MIR107 skos:exactMatch hgnc.symbol:MIR107 semapv:UnspecifiedMatching OMIM:613189 MIR107 skos:exactMatch ncbigene:406901 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch UMLS:C1825897 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch UMLS:C2750790 semapv:UnspecifiedMatching -OMIM:613190 DNAAF1 skos:exactMatch hgnc:DNAAF1 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:30539 semapv:UnspecifiedMatching +OMIM:613190 DNAAF1 skos:exactMatch hgnc.symbol:DNAAF1 semapv:UnspecifiedMatching OMIM:613190 DNAAF1 skos:exactMatch ncbigene:123872 semapv:UnspecifiedMatching -OMIM:613191 DUSP13 skos:exactMatch hgnc:DUSP13B semapv:UnspecifiedMatching +OMIM:613191 DUSP13 skos:exactMatch hgnc.symbol:DUSP13B semapv:UnspecifiedMatching OMIM:613191 DUSP13 skos:exactMatch ncbigene:51207 semapv:UnspecifiedMatching -OMIM:613196 ETAA1 skos:exactMatch hgnc:ETAA1 semapv:UnspecifiedMatching +OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:24648 semapv:UnspecifiedMatching +OMIM:613196 ETAA1 skos:exactMatch hgnc.symbol:ETAA1 semapv:UnspecifiedMatching OMIM:613196 ETAA1 skos:exactMatch ncbigene:54465 semapv:UnspecifiedMatching -OMIM:613197 TRAFD1 skos:exactMatch hgnc:TRAFD1 semapv:UnspecifiedMatching +OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:24808 semapv:UnspecifiedMatching +OMIM:613197 TRAFD1 skos:exactMatch hgnc.symbol:TRAFD1 semapv:UnspecifiedMatching OMIM:613197 TRAFD1 skos:exactMatch ncbigene:10906 semapv:UnspecifiedMatching OMIM:613198 KMT5C skos:exactMatch UMLS:C1539901 semapv:UnspecifiedMatching -OMIM:613198 KMT5C skos:exactMatch hgnc:KMT5C semapv:UnspecifiedMatching +OMIM:613198 KMT5C skos:exactMatch hgnc.symbol:28405 semapv:UnspecifiedMatching +OMIM:613198 KMT5C skos:exactMatch hgnc.symbol:KMT5C semapv:UnspecifiedMatching OMIM:613198 KMT5C skos:exactMatch ncbigene:84787 semapv:UnspecifiedMatching -OMIM:613199 TAOK2 skos:exactMatch hgnc:TAOK2 semapv:UnspecifiedMatching +OMIM:613199 TAOK2 skos:exactMatch hgnc.symbol:16835 semapv:UnspecifiedMatching +OMIM:613199 TAOK2 skos:exactMatch hgnc.symbol:TAOK2 semapv:UnspecifiedMatching OMIM:613199 TAOK2 skos:exactMatch ncbigene:9344 semapv:UnspecifiedMatching OMIM:613200 PDS5A skos:exactMatch UMLS:C2239805 semapv:UnspecifiedMatching -OMIM:613200 PDS5A skos:exactMatch hgnc:PDS5A semapv:UnspecifiedMatching +OMIM:613200 PDS5A skos:exactMatch hgnc.symbol:29088 semapv:UnspecifiedMatching +OMIM:613200 PDS5A skos:exactMatch hgnc.symbol:PDS5A semapv:UnspecifiedMatching OMIM:613200 PDS5A skos:exactMatch ncbigene:23244 semapv:UnspecifiedMatching OMIM:613201 CHTF18 skos:exactMatch UMLS:C1425513 semapv:UnspecifiedMatching -OMIM:613201 CHTF18 skos:exactMatch hgnc:CHTF18 semapv:UnspecifiedMatching +OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:18435 semapv:UnspecifiedMatching +OMIM:613201 CHTF18 skos:exactMatch hgnc.symbol:CHTF18 semapv:UnspecifiedMatching OMIM:613201 CHTF18 skos:exactMatch ncbigene:63922 semapv:UnspecifiedMatching OMIM:613202 CHTF8 skos:exactMatch UMLS:C2681361 semapv:UnspecifiedMatching -OMIM:613202 CHTF8 skos:exactMatch hgnc:CHTF8 semapv:UnspecifiedMatching +OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:24353 semapv:UnspecifiedMatching +OMIM:613202 CHTF8 skos:exactMatch hgnc.symbol:CHTF8 semapv:UnspecifiedMatching OMIM:613202 CHTF8 skos:exactMatch ncbigene:54921 semapv:UnspecifiedMatching -OMIM:613203 DSCC1 skos:exactMatch hgnc:DSCC1 semapv:UnspecifiedMatching +OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:24453 semapv:UnspecifiedMatching +OMIM:613203 DSCC1 skos:exactMatch hgnc.symbol:DSCC1 semapv:UnspecifiedMatching OMIM:613203 DSCC1 skos:exactMatch ncbigene:79075 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch UMLS:C1421540 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching -OMIM:613208 XPC skos:exactMatch hgnc:XPC semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch hgnc.symbol:12816 semapv:UnspecifiedMatching +OMIM:613208 XPC skos:exactMatch hgnc.symbol:XPC semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch ncbigene:7508 semapv:UnspecifiedMatching -OMIM:613209 TMEM181 skos:exactMatch hgnc:TMEM181 semapv:UnspecifiedMatching +OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:20958 semapv:UnspecifiedMatching +OMIM:613209 TMEM181 skos:exactMatch hgnc.symbol:TMEM181 semapv:UnspecifiedMatching OMIM:613209 TMEM181 skos:exactMatch ncbigene:57583 semapv:UnspecifiedMatching -OMIM:613210 DPH7 skos:exactMatch hgnc:DPH7 semapv:UnspecifiedMatching +OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:25199 semapv:UnspecifiedMatching +OMIM:613210 DPH7 skos:exactMatch hgnc.symbol:DPH7 semapv:UnspecifiedMatching OMIM:613210 DPH7 skos:exactMatch ncbigene:92715 semapv:UnspecifiedMatching -OMIM:613212 AARSD1 skos:exactMatch hgnc:AARSD1 semapv:UnspecifiedMatching +OMIM:613212 AARSD1 skos:exactMatch hgnc.symbol:28417 semapv:UnspecifiedMatching +OMIM:613212 AARSD1 skos:exactMatch hgnc.symbol:AARSD1 semapv:UnspecifiedMatching OMIM:613212 AARSD1 skos:exactMatch ncbigene:80755 semapv:UnspecifiedMatching -OMIM:613213 CYB5R3 skos:exactMatch hgnc:CYB5R3 semapv:UnspecifiedMatching +OMIM:613213 CYB5R3 skos:exactMatch hgnc.symbol:2873 semapv:UnspecifiedMatching +OMIM:613213 CYB5R3 skos:exactMatch hgnc.symbol:CYB5R3 semapv:UnspecifiedMatching OMIM:613213 CYB5R3 skos:exactMatch ncbigene:1727 semapv:UnspecifiedMatching -OMIM:613214 WDR72 skos:exactMatch hgnc:WDR72 semapv:UnspecifiedMatching +OMIM:613214 WDR72 skos:exactMatch hgnc.symbol:26790 semapv:UnspecifiedMatching +OMIM:613214 WDR72 skos:exactMatch hgnc.symbol:WDR72 semapv:UnspecifiedMatching OMIM:613214 WDR72 skos:exactMatch ncbigene:256764 semapv:UnspecifiedMatching -OMIM:613218 CYB5A skos:exactMatch hgnc:CYB5A semapv:UnspecifiedMatching +OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:2570 semapv:UnspecifiedMatching +OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:CYB5A semapv:UnspecifiedMatching OMIM:613218 CYB5A skos:exactMatch ncbigene:1528 semapv:UnspecifiedMatching OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C2750735 semapv:UnspecifiedMatching OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C3150459 semapv:UnspecifiedMatching -OMIM:613220 TMEM18 skos:exactMatch hgnc:TMEM18 semapv:UnspecifiedMatching +OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:25257 semapv:UnspecifiedMatching +OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:TMEM18 semapv:UnspecifiedMatching OMIM:613220 TMEM18 skos:exactMatch ncbigene:129787 semapv:UnspecifiedMatching -OMIM:613221 MTCH2 skos:exactMatch hgnc:MTCH2 semapv:UnspecifiedMatching +OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:17587 semapv:UnspecifiedMatching +OMIM:613221 MTCH2 skos:exactMatch hgnc.symbol:MTCH2 semapv:UnspecifiedMatching OMIM:613221 MTCH2 skos:exactMatch ncbigene:23788 semapv:UnspecifiedMatching -OMIM:613222 GNPDA2 skos:exactMatch hgnc:GNPDA2 semapv:UnspecifiedMatching +OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:21526 semapv:UnspecifiedMatching +OMIM:613222 GNPDA2 skos:exactMatch hgnc.symbol:GNPDA2 semapv:UnspecifiedMatching OMIM:613222 GNPDA2 skos:exactMatch ncbigene:132789 semapv:UnspecifiedMatching -OMIM:613226 ZNF296 skos:exactMatch hgnc:ZNF296 semapv:UnspecifiedMatching +OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:15981 semapv:UnspecifiedMatching +OMIM:613226 ZNF296 skos:exactMatch hgnc.symbol:ZNF296 semapv:UnspecifiedMatching OMIM:613226 ZNF296 skos:exactMatch ncbigene:162979 semapv:UnspecifiedMatching -OMIM:613228 AGA skos:exactMatch hgnc:AGA semapv:UnspecifiedMatching +OMIM:613228 AGA skos:exactMatch hgnc.symbol:318 semapv:UnspecifiedMatching +OMIM:613228 AGA skos:exactMatch hgnc.symbol:AGA semapv:UnspecifiedMatching OMIM:613228 AGA skos:exactMatch ncbigene:175 semapv:UnspecifiedMatching -OMIM:613230 PEPD skos:exactMatch hgnc:PEPD semapv:UnspecifiedMatching +OMIM:613230 PEPD skos:exactMatch hgnc.symbol:8840 semapv:UnspecifiedMatching +OMIM:613230 PEPD skos:exactMatch hgnc.symbol:PEPD semapv:UnspecifiedMatching OMIM:613230 PEPD skos:exactMatch ncbigene:5184 semapv:UnspecifiedMatching -OMIM:613231 KIF26A skos:exactMatch hgnc:KIF26A semapv:UnspecifiedMatching +OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:20226 semapv:UnspecifiedMatching +OMIM:613231 KIF26A skos:exactMatch hgnc.symbol:KIF26A semapv:UnspecifiedMatching OMIM:613231 KIF26A skos:exactMatch ncbigene:26153 semapv:UnspecifiedMatching -OMIM:613232 RBM42 skos:exactMatch hgnc:RBM42 semapv:UnspecifiedMatching +OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:28117 semapv:UnspecifiedMatching +OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:RBM42 semapv:UnspecifiedMatching OMIM:613232 RBM42 skos:exactMatch ncbigene:79171 semapv:UnspecifiedMatching -OMIM:613234 NCEH1 skos:exactMatch hgnc:NCEH1 semapv:UnspecifiedMatching +OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:29260 semapv:UnspecifiedMatching +OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:NCEH1 semapv:UnspecifiedMatching OMIM:613234 NCEH1 skos:exactMatch ncbigene:57552 semapv:UnspecifiedMatching -OMIM:613236 KCNJ18 skos:exactMatch hgnc:KCNJ18 semapv:UnspecifiedMatching +OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:39080 semapv:UnspecifiedMatching +OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:KCNJ18 semapv:UnspecifiedMatching OMIM:613236 KCNJ18 skos:exactMatch ncbigene:100134444 semapv:UnspecifiedMatching -OMIM:613240 PPP1R1C skos:exactMatch hgnc:PPP1R1C semapv:UnspecifiedMatching +OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:14940 semapv:UnspecifiedMatching +OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:PPP1R1C semapv:UnspecifiedMatching OMIM:613240 PPP1R1C skos:exactMatch ncbigene:151242 semapv:UnspecifiedMatching -OMIM:613242 PPP1R14C skos:exactMatch hgnc:PPP1R14C semapv:UnspecifiedMatching +OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:14952 semapv:UnspecifiedMatching +OMIM:613242 PPP1R14C skos:exactMatch hgnc.symbol:PPP1R14C semapv:UnspecifiedMatching OMIM:613242 PPP1R14C skos:exactMatch ncbigene:81706 semapv:UnspecifiedMatching -OMIM:613245 PPP1R12C skos:exactMatch hgnc:PPP1R12C semapv:UnspecifiedMatching +OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:14947 semapv:UnspecifiedMatching +OMIM:613245 PPP1R12C skos:exactMatch hgnc.symbol:PPP1R12C semapv:UnspecifiedMatching OMIM:613245 PPP1R12C skos:exactMatch ncbigene:54776 semapv:UnspecifiedMatching -OMIM:613246 PPP1R1A skos:exactMatch hgnc:PPP1R1A semapv:UnspecifiedMatching +OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:9286 semapv:UnspecifiedMatching +OMIM:613246 PPP1R1A skos:exactMatch hgnc.symbol:PPP1R1A semapv:UnspecifiedMatching OMIM:613246 PPP1R1A skos:exactMatch ncbigene:5502 semapv:UnspecifiedMatching -OMIM:613247 PLIN4 skos:exactMatch hgnc:PLIN4 semapv:UnspecifiedMatching +OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:29393 semapv:UnspecifiedMatching +OMIM:613247 PLIN4 skos:exactMatch hgnc.symbol:PLIN4 semapv:UnspecifiedMatching OMIM:613247 PLIN4 skos:exactMatch ncbigene:729359 semapv:UnspecifiedMatching -OMIM:613248 PLIN5 skos:exactMatch hgnc:PLIN5 semapv:UnspecifiedMatching +OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:33196 semapv:UnspecifiedMatching +OMIM:613248 PLIN5 skos:exactMatch hgnc.symbol:PLIN5 semapv:UnspecifiedMatching OMIM:613248 PLIN5 skos:exactMatch ncbigene:440503 semapv:UnspecifiedMatching -OMIM:613249 EBLN1 skos:exactMatch hgnc:EBLN1 semapv:UnspecifiedMatching +OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:39430 semapv:UnspecifiedMatching +OMIM:613249 EBLN1 skos:exactMatch hgnc.symbol:EBLN1 semapv:UnspecifiedMatching OMIM:613249 EBLN1 skos:exactMatch ncbigene:340900 semapv:UnspecifiedMatching -OMIM:613250 EBLN2 skos:exactMatch hgnc:EBLN2 semapv:UnspecifiedMatching +OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:25493 semapv:UnspecifiedMatching +OMIM:613250 EBLN2 skos:exactMatch hgnc.symbol:EBLN2 semapv:UnspecifiedMatching OMIM:613250 EBLN2 skos:exactMatch ncbigene:55096 semapv:UnspecifiedMatching -OMIM:613256 PPP1R14D skos:exactMatch hgnc:PPP1R14D semapv:UnspecifiedMatching +OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:14953 semapv:UnspecifiedMatching +OMIM:613256 PPP1R14D skos:exactMatch hgnc.symbol:PPP1R14D semapv:UnspecifiedMatching OMIM:613256 PPP1R14D skos:exactMatch ncbigene:54866 semapv:UnspecifiedMatching -OMIM:613257 PPP1R15B skos:exactMatch hgnc:PPP1R15B semapv:UnspecifiedMatching +OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:14951 semapv:UnspecifiedMatching +OMIM:613257 PPP1R15B skos:exactMatch hgnc.symbol:PPP1R15B semapv:UnspecifiedMatching OMIM:613257 PPP1R15B skos:exactMatch ncbigene:84919 semapv:UnspecifiedMatching -OMIM:613258 C18ORF54 skos:exactMatch hgnc:C18orf54 semapv:UnspecifiedMatching +OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:13796 semapv:UnspecifiedMatching +OMIM:613258 C18ORF54 skos:exactMatch hgnc.symbol:C18orf54 semapv:UnspecifiedMatching OMIM:613258 C18ORF54 skos:exactMatch ncbigene:162681 semapv:UnspecifiedMatching -OMIM:613259 RPTN skos:exactMatch hgnc:RPTN semapv:UnspecifiedMatching +OMIM:613259 RPTN skos:exactMatch hgnc.symbol:26809 semapv:UnspecifiedMatching +OMIM:613259 RPTN skos:exactMatch hgnc.symbol:RPTN semapv:UnspecifiedMatching OMIM:613259 RPTN skos:exactMatch ncbigene:126638 semapv:UnspecifiedMatching -OMIM:613260 KPRP skos:exactMatch hgnc:KPRP semapv:UnspecifiedMatching +OMIM:613260 KPRP skos:exactMatch hgnc.symbol:31823 semapv:UnspecifiedMatching +OMIM:613260 KPRP skos:exactMatch hgnc.symbol:KPRP semapv:UnspecifiedMatching OMIM:613260 KPRP skos:exactMatch ncbigene:448834 semapv:UnspecifiedMatching -OMIM:613261 PRTG skos:exactMatch hgnc:PRTG semapv:UnspecifiedMatching +OMIM:613261 PRTG skos:exactMatch hgnc.symbol:26373 semapv:UnspecifiedMatching +OMIM:613261 PRTG skos:exactMatch hgnc.symbol:PRTG semapv:UnspecifiedMatching OMIM:613261 PRTG skos:exactMatch ncbigene:283659 semapv:UnspecifiedMatching -OMIM:613262 RSL24D1 skos:exactMatch hgnc:RSL24D1 semapv:UnspecifiedMatching +OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:18479 semapv:UnspecifiedMatching +OMIM:613262 RSL24D1 skos:exactMatch hgnc.symbol:RSL24D1 semapv:UnspecifiedMatching OMIM:613262 RSL24D1 skos:exactMatch ncbigene:51187 semapv:UnspecifiedMatching -OMIM:613263 SNHG5 skos:exactMatch hgnc:SNHG5 semapv:UnspecifiedMatching +OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:21026 semapv:UnspecifiedMatching +OMIM:613263 SNHG5 skos:exactMatch hgnc.symbol:SNHG5 semapv:UnspecifiedMatching OMIM:613263 SNHG5 skos:exactMatch ncbigene:387066 semapv:UnspecifiedMatching -OMIM:613264 SNORD50B skos:exactMatch hgnc:SNORD50B semapv:UnspecifiedMatching +OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:32722 semapv:UnspecifiedMatching +OMIM:613264 SNORD50B skos:exactMatch hgnc.symbol:SNORD50B semapv:UnspecifiedMatching OMIM:613264 SNORD50B skos:exactMatch ncbigene:692088 semapv:UnspecifiedMatching -OMIM:613272 KCTD3 skos:exactMatch hgnc:KCTD3 semapv:UnspecifiedMatching +OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:21305 semapv:UnspecifiedMatching +OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:KCTD3 semapv:UnspecifiedMatching OMIM:613272 KCTD3 skos:exactMatch ncbigene:51133 semapv:UnspecifiedMatching -OMIM:613273 INIP skos:exactMatch hgnc:INIP semapv:UnspecifiedMatching +OMIM:613273 INIP skos:exactMatch hgnc.symbol:24994 semapv:UnspecifiedMatching +OMIM:613273 INIP skos:exactMatch hgnc.symbol:INIP semapv:UnspecifiedMatching OMIM:613273 INIP skos:exactMatch ncbigene:58493 semapv:UnspecifiedMatching -OMIM:613274 MOCOS skos:exactMatch hgnc:MOCOS semapv:UnspecifiedMatching +OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:18234 semapv:UnspecifiedMatching +OMIM:613274 MOCOS skos:exactMatch hgnc.symbol:MOCOS semapv:UnspecifiedMatching OMIM:613274 MOCOS skos:exactMatch ncbigene:55034 semapv:UnspecifiedMatching -OMIM:613275 PPP1R16B skos:exactMatch hgnc:PPP1R16B semapv:UnspecifiedMatching +OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:15850 semapv:UnspecifiedMatching +OMIM:613275 PPP1R16B skos:exactMatch hgnc.symbol:PPP1R16B semapv:UnspecifiedMatching OMIM:613275 PPP1R16B skos:exactMatch ncbigene:26051 semapv:UnspecifiedMatching -OMIM:613276 USB1 skos:exactMatch hgnc:USB1 semapv:UnspecifiedMatching +OMIM:613276 USB1 skos:exactMatch hgnc.symbol:25792 semapv:UnspecifiedMatching +OMIM:613276 USB1 skos:exactMatch hgnc.symbol:USB1 semapv:UnspecifiedMatching OMIM:613276 USB1 skos:exactMatch ncbigene:79650 semapv:UnspecifiedMatching -OMIM:613277 TMEM216 skos:exactMatch hgnc:TMEM216 semapv:UnspecifiedMatching +OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:25018 semapv:UnspecifiedMatching +OMIM:613277 TMEM216 skos:exactMatch hgnc.symbol:TMEM216 semapv:UnspecifiedMatching OMIM:613277 TMEM216 skos:exactMatch ncbigene:51259 semapv:UnspecifiedMatching -OMIM:613278 SLX4 skos:exactMatch hgnc:SLX4 semapv:UnspecifiedMatching +OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:23845 semapv:UnspecifiedMatching +OMIM:613278 SLX4 skos:exactMatch hgnc.symbol:SLX4 semapv:UnspecifiedMatching OMIM:613278 SLX4 skos:exactMatch ncbigene:84464 semapv:UnspecifiedMatching -OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc:ZC3H14 semapv:UnspecifiedMatching +OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:20509 semapv:UnspecifiedMatching +OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch hgnc.symbol:ZC3H14 semapv:UnspecifiedMatching OMIM:613279 zinc finger ccch domain-containing protein 14: zc3h14 skos:exactMatch ncbigene:79882 semapv:UnspecifiedMatching +OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch Orphanet:309854 semapv:UnspecifiedMatching OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch UMLS:C2750442 semapv:UnspecifiedMatching -OMIM:613280 hypermanganesemia with dystonia 1 skos:exactMatch orphanet.ordo:309854 semapv:UnspecifiedMatching -OMIM:613281 SNX20 skos:exactMatch hgnc:SNX20 semapv:UnspecifiedMatching +OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:30390 semapv:UnspecifiedMatching +OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:SNX20 semapv:UnspecifiedMatching OMIM:613281 SNX20 skos:exactMatch ncbigene:124460 semapv:UnspecifiedMatching -OMIM:613283 GRXCR1 skos:exactMatch hgnc:GRXCR1 semapv:UnspecifiedMatching +OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:31673 semapv:UnspecifiedMatching +OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:GRXCR1 semapv:UnspecifiedMatching OMIM:613283 GRXCR1 skos:exactMatch ncbigene:389207 semapv:UnspecifiedMatching -OMIM:613288 TRIM72 skos:exactMatch hgnc:TRIM72 semapv:UnspecifiedMatching +OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:32671 semapv:UnspecifiedMatching +OMIM:613288 TRIM72 skos:exactMatch hgnc.symbol:TRIM72 semapv:UnspecifiedMatching OMIM:613288 TRIM72 skos:exactMatch ncbigene:493829 semapv:UnspecifiedMatching -OMIM:613289 ATXN8 skos:exactMatch hgnc:ATXN8 semapv:UnspecifiedMatching +OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:32925 semapv:UnspecifiedMatching +OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:ATXN8 semapv:UnspecifiedMatching OMIM:613289 ATXN8 skos:exactMatch ncbigene:724066 semapv:UnspecifiedMatching -OMIM:613292 DENND1B skos:exactMatch hgnc:DENND1B semapv:UnspecifiedMatching +OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:28404 semapv:UnspecifiedMatching +OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:DENND1B semapv:UnspecifiedMatching OMIM:613292 DENND1B skos:exactMatch ncbigene:163486 semapv:UnspecifiedMatching -OMIM:613293 SH3PXD2B skos:exactMatch hgnc:SH3PXD2B semapv:UnspecifiedMatching +OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:29242 semapv:UnspecifiedMatching +OMIM:613293 SH3PXD2B skos:exactMatch hgnc.symbol:SH3PXD2B semapv:UnspecifiedMatching OMIM:613293 SH3PXD2B skos:exactMatch ncbigene:285590 semapv:UnspecifiedMatching -OMIM:613294 SAE1 skos:exactMatch hgnc:SAE1 semapv:UnspecifiedMatching +OMIM:613294 SAE1 skos:exactMatch hgnc.symbol:30660 semapv:UnspecifiedMatching +OMIM:613294 SAE1 skos:exactMatch hgnc.symbol:SAE1 semapv:UnspecifiedMatching OMIM:613294 SAE1 skos:exactMatch ncbigene:10055 semapv:UnspecifiedMatching -OMIM:613295 UBA2 skos:exactMatch hgnc:UBA2 semapv:UnspecifiedMatching +OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:30661 semapv:UnspecifiedMatching +OMIM:613295 UBA2 skos:exactMatch hgnc.symbol:UBA2 semapv:UnspecifiedMatching OMIM:613295 UBA2 skos:exactMatch ncbigene:10054 semapv:UnspecifiedMatching OMIM:613296 LAPTM4B skos:exactMatch UMLS:C1422129 semapv:UnspecifiedMatching -OMIM:613296 LAPTM4B skos:exactMatch hgnc:LAPTM4B semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:13646 semapv:UnspecifiedMatching +OMIM:613296 LAPTM4B skos:exactMatch hgnc.symbol:LAPTM4B semapv:UnspecifiedMatching OMIM:613296 LAPTM4B skos:exactMatch ncbigene:55353 semapv:UnspecifiedMatching -OMIM:613297 MARCHF6 skos:exactMatch hgnc:MARCHF6 semapv:UnspecifiedMatching +OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:30550 semapv:UnspecifiedMatching +OMIM:613297 MARCHF6 skos:exactMatch hgnc.symbol:MARCHF6 semapv:UnspecifiedMatching OMIM:613297 MARCHF6 skos:exactMatch ncbigene:10299 semapv:UnspecifiedMatching -OMIM:613298 TICRR skos:exactMatch hgnc:TICRR semapv:UnspecifiedMatching +OMIM:613298 TICRR skos:exactMatch hgnc.symbol:28704 semapv:UnspecifiedMatching +OMIM:613298 TICRR skos:exactMatch hgnc.symbol:TICRR semapv:UnspecifiedMatching OMIM:613298 TICRR skos:exactMatch ncbigene:90381 semapv:UnspecifiedMatching -OMIM:613299 FAM13A skos:exactMatch hgnc:FAM13A semapv:UnspecifiedMatching +OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:19367 semapv:UnspecifiedMatching +OMIM:613299 FAM13A skos:exactMatch hgnc.symbol:FAM13A semapv:UnspecifiedMatching OMIM:613299 FAM13A skos:exactMatch ncbigene:10144 semapv:UnspecifiedMatching -OMIM:613300 FAM13AOS skos:exactMatch hgnc:FAM13A-AS1 semapv:UnspecifiedMatching +OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:19370 semapv:UnspecifiedMatching +OMIM:613300 FAM13AOS skos:exactMatch hgnc.symbol:FAM13A-AS1 semapv:UnspecifiedMatching OMIM:613300 FAM13AOS skos:exactMatch ncbigene:285512 semapv:UnspecifiedMatching -OMIM:613301 FEZF1 skos:exactMatch hgnc:FEZF1 semapv:UnspecifiedMatching +OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:22788 semapv:UnspecifiedMatching +OMIM:613301 FEZF1 skos:exactMatch hgnc.symbol:FEZF1 semapv:UnspecifiedMatching OMIM:613301 FEZF1 skos:exactMatch ncbigene:389549 semapv:UnspecifiedMatching -OMIM:613302 ALKBH4 skos:exactMatch hgnc:ALKBH4 semapv:UnspecifiedMatching +OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:21900 semapv:UnspecifiedMatching +OMIM:613302 ALKBH4 skos:exactMatch hgnc.symbol:ALKBH4 semapv:UnspecifiedMatching OMIM:613302 ALKBH4 skos:exactMatch ncbigene:54784 semapv:UnspecifiedMatching -OMIM:613303 ALKBH5 skos:exactMatch hgnc:ALKBH5 semapv:UnspecifiedMatching +OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:25996 semapv:UnspecifiedMatching +OMIM:613303 ALKBH5 skos:exactMatch hgnc.symbol:ALKBH5 semapv:UnspecifiedMatching OMIM:613303 ALKBH5 skos:exactMatch ncbigene:54890 semapv:UnspecifiedMatching -OMIM:613304 ALKBH6 skos:exactMatch hgnc:ALKBH6 semapv:UnspecifiedMatching +OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:28243 semapv:UnspecifiedMatching +OMIM:613304 ALKBH6 skos:exactMatch hgnc.symbol:ALKBH6 semapv:UnspecifiedMatching OMIM:613304 ALKBH6 skos:exactMatch ncbigene:84964 semapv:UnspecifiedMatching -OMIM:613305 ALKBH7 skos:exactMatch hgnc:ALKBH7 semapv:UnspecifiedMatching +OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:21306 semapv:UnspecifiedMatching +OMIM:613305 ALKBH7 skos:exactMatch hgnc.symbol:ALKBH7 semapv:UnspecifiedMatching OMIM:613305 ALKBH7 skos:exactMatch ncbigene:84266 semapv:UnspecifiedMatching -OMIM:613306 ALKBH8 skos:exactMatch hgnc:ALKBH8 semapv:UnspecifiedMatching +OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:25189 semapv:UnspecifiedMatching +OMIM:613306 ALKBH8 skos:exactMatch hgnc.symbol:ALKBH8 semapv:UnspecifiedMatching OMIM:613306 ALKBH8 skos:exactMatch ncbigene:91801 semapv:UnspecifiedMatching -OMIM:613311 LYRM4 skos:exactMatch hgnc:LYRM4 semapv:UnspecifiedMatching +OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:21365 semapv:UnspecifiedMatching +OMIM:613311 LYRM4 skos:exactMatch hgnc.symbol:LYRM4 semapv:UnspecifiedMatching OMIM:613311 LYRM4 skos:exactMatch ncbigene:57128 semapv:UnspecifiedMatching -OMIM:613314 RPL37A skos:exactMatch hgnc:RPL37A semapv:UnspecifiedMatching +OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:10348 semapv:UnspecifiedMatching +OMIM:613314 RPL37A skos:exactMatch hgnc.symbol:RPL37A semapv:UnspecifiedMatching OMIM:613314 RPL37A skos:exactMatch ncbigene:6168 semapv:UnspecifiedMatching -OMIM:613315 RPL41 skos:exactMatch hgnc:RPL41 semapv:UnspecifiedMatching +OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:10354 semapv:UnspecifiedMatching +OMIM:613315 RPL41 skos:exactMatch hgnc.symbol:RPL41 semapv:UnspecifiedMatching OMIM:613315 RPL41 skos:exactMatch ncbigene:6171 semapv:UnspecifiedMatching -OMIM:613316 WDFY4 skos:exactMatch hgnc:WDFY4 semapv:UnspecifiedMatching +OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:29323 semapv:UnspecifiedMatching +OMIM:613316 WDFY4 skos:exactMatch hgnc.symbol:WDFY4 semapv:UnspecifiedMatching OMIM:613316 WDFY4 skos:exactMatch ncbigene:57705 semapv:UnspecifiedMatching -OMIM:613317 DCAF11 skos:exactMatch hgnc:DCAF11 semapv:UnspecifiedMatching +OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:20258 semapv:UnspecifiedMatching +OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:DCAF11 semapv:UnspecifiedMatching OMIM:613317 DCAF11 skos:exactMatch ncbigene:80344 semapv:UnspecifiedMatching -OMIM:613321 GXYLT1 skos:exactMatch hgnc:GXYLT1 semapv:UnspecifiedMatching +OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:27482 semapv:UnspecifiedMatching +OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:GXYLT1 semapv:UnspecifiedMatching OMIM:613321 GXYLT1 skos:exactMatch ncbigene:283464 semapv:UnspecifiedMatching -OMIM:613322 GXYLT2 skos:exactMatch hgnc:GXYLT2 semapv:UnspecifiedMatching +OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:33383 semapv:UnspecifiedMatching +OMIM:613322 GXYLT2 skos:exactMatch hgnc.symbol:GXYLT2 semapv:UnspecifiedMatching OMIM:613322 GXYLT2 skos:exactMatch ncbigene:727936 semapv:UnspecifiedMatching -OMIM:613323 FRMPD2 skos:exactMatch hgnc:FRMPD2 semapv:UnspecifiedMatching +OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:28572 semapv:UnspecifiedMatching +OMIM:613323 FRMPD2 skos:exactMatch hgnc.symbol:FRMPD2 semapv:UnspecifiedMatching OMIM:613323 FRMPD2 skos:exactMatch ncbigene:143162 semapv:UnspecifiedMatching -OMIM:613324 SPATA13 skos:exactMatch hgnc:SPATA13 semapv:UnspecifiedMatching +OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:23222 semapv:UnspecifiedMatching +OMIM:613324 SPATA13 skos:exactMatch hgnc.symbol:SPATA13 semapv:UnspecifiedMatching OMIM:613324 SPATA13 skos:exactMatch ncbigene:221178 semapv:UnspecifiedMatching OMIM:613326 DPYS skos:exactMatch UMLS:C0342803 semapv:UnspecifiedMatching OMIM:613326 DPYS skos:exactMatch UMLS:C1414144 semapv:UnspecifiedMatching -OMIM:613326 DPYS skos:exactMatch hgnc:DPYS semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch hgnc.symbol:3013 semapv:UnspecifiedMatching +OMIM:613326 DPYS skos:exactMatch hgnc.symbol:DPYS semapv:UnspecifiedMatching OMIM:613326 DPYS skos:exactMatch ncbigene:1807 semapv:UnspecifiedMatching -OMIM:613331 MARCHF1 skos:exactMatch hgnc:MARCHF1 semapv:UnspecifiedMatching +OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:26077 semapv:UnspecifiedMatching +OMIM:613331 MARCHF1 skos:exactMatch hgnc.symbol:MARCHF1 semapv:UnspecifiedMatching OMIM:613331 MARCHF1 skos:exactMatch ncbigene:55016 semapv:UnspecifiedMatching -OMIM:613332 MARCHF2 skos:exactMatch hgnc:MARCHF2 semapv:UnspecifiedMatching +OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:28038 semapv:UnspecifiedMatching +OMIM:613332 MARCHF2 skos:exactMatch hgnc.symbol:MARCHF2 semapv:UnspecifiedMatching OMIM:613332 MARCHF2 skos:exactMatch ncbigene:51257 semapv:UnspecifiedMatching -OMIM:613333 MARCHF3 skos:exactMatch hgnc:MARCHF3 semapv:UnspecifiedMatching +OMIM:613333 MARCHF3 skos:exactMatch hgnc.symbol:28728 semapv:UnspecifiedMatching +OMIM:613333 MARCHF3 skos:exactMatch hgnc.symbol:MARCHF3 semapv:UnspecifiedMatching OMIM:613333 MARCHF3 skos:exactMatch ncbigene:115123 semapv:UnspecifiedMatching -OMIM:613334 MARCHF7 skos:exactMatch hgnc:MARCHF7 semapv:UnspecifiedMatching +OMIM:613334 MARCHF7 skos:exactMatch hgnc.symbol:17393 semapv:UnspecifiedMatching +OMIM:613334 MARCHF7 skos:exactMatch hgnc.symbol:MARCHF7 semapv:UnspecifiedMatching OMIM:613334 MARCHF7 skos:exactMatch ncbigene:64844 semapv:UnspecifiedMatching -OMIM:613335 MARCHF8 skos:exactMatch hgnc:MARCHF8 semapv:UnspecifiedMatching +OMIM:613335 MARCHF8 skos:exactMatch hgnc.symbol:23356 semapv:UnspecifiedMatching +OMIM:613335 MARCHF8 skos:exactMatch hgnc.symbol:MARCHF8 semapv:UnspecifiedMatching OMIM:613335 MARCHF8 skos:exactMatch ncbigene:220972 semapv:UnspecifiedMatching -OMIM:613336 MARCHF9 skos:exactMatch hgnc:MARCHF9 semapv:UnspecifiedMatching +OMIM:613336 MARCHF9 skos:exactMatch hgnc.symbol:25139 semapv:UnspecifiedMatching +OMIM:613336 MARCHF9 skos:exactMatch hgnc.symbol:MARCHF9 semapv:UnspecifiedMatching OMIM:613336 MARCHF9 skos:exactMatch ncbigene:92979 semapv:UnspecifiedMatching -OMIM:613337 MARCHF10 skos:exactMatch hgnc:MARCHF10 semapv:UnspecifiedMatching +OMIM:613337 MARCHF10 skos:exactMatch hgnc.symbol:26655 semapv:UnspecifiedMatching +OMIM:613337 MARCHF10 skos:exactMatch hgnc.symbol:MARCHF10 semapv:UnspecifiedMatching OMIM:613337 MARCHF10 skos:exactMatch ncbigene:162333 semapv:UnspecifiedMatching -OMIM:613338 MARCHF11 skos:exactMatch hgnc:MARCHF11 semapv:UnspecifiedMatching +OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:33609 semapv:UnspecifiedMatching +OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:MARCHF11 semapv:UnspecifiedMatching OMIM:613338 MARCHF11 skos:exactMatch ncbigene:441061 semapv:UnspecifiedMatching -OMIM:613344 KIAA1549 skos:exactMatch hgnc:KIAA1549 semapv:UnspecifiedMatching +OMIM:613344 KIAA1549 skos:exactMatch hgnc.symbol:22219 semapv:UnspecifiedMatching +OMIM:613344 KIAA1549 skos:exactMatch hgnc.symbol:KIAA1549 semapv:UnspecifiedMatching OMIM:613344 KIAA1549 skos:exactMatch ncbigene:57670 semapv:UnspecifiedMatching -OMIM:613346 SHISA9 skos:exactMatch hgnc:SHISA9 semapv:UnspecifiedMatching +OMIM:613346 SHISA9 skos:exactMatch hgnc.symbol:37231 semapv:UnspecifiedMatching +OMIM:613346 SHISA9 skos:exactMatch hgnc.symbol:SHISA9 semapv:UnspecifiedMatching OMIM:613346 SHISA9 skos:exactMatch ncbigene:729993 semapv:UnspecifiedMatching -OMIM:613349 OAT skos:exactMatch hgnc:OAT semapv:UnspecifiedMatching +OMIM:613349 OAT skos:exactMatch hgnc.symbol:8091 semapv:UnspecifiedMatching +OMIM:613349 OAT skos:exactMatch hgnc.symbol:OAT semapv:UnspecifiedMatching OMIM:613349 OAT skos:exactMatch ncbigene:4942 semapv:UnspecifiedMatching OMIM:613350 SLC52A3 skos:exactMatch UMLS:C0015708 semapv:UnspecifiedMatching OMIM:613350 SLC52A3 skos:exactMatch UMLS:C0796274 semapv:UnspecifiedMatching OMIM:613350 SLC52A3 skos:exactMatch UMLS:C1424064 semapv:UnspecifiedMatching OMIM:613350 SLC52A3 skos:exactMatch UMLS:C4017306 semapv:UnspecifiedMatching -OMIM:613350 SLC52A3 skos:exactMatch hgnc:SLC52A3 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch hgnc.symbol:16187 semapv:UnspecifiedMatching +OMIM:613350 SLC52A3 skos:exactMatch hgnc.symbol:SLC52A3 semapv:UnspecifiedMatching OMIM:613350 SLC52A3 skos:exactMatch ncbigene:113278 semapv:UnspecifiedMatching -OMIM:613351 ARHGAP18 skos:exactMatch hgnc:ARHGAP18 semapv:UnspecifiedMatching +OMIM:613351 ARHGAP18 skos:exactMatch hgnc.symbol:21035 semapv:UnspecifiedMatching +OMIM:613351 ARHGAP18 skos:exactMatch hgnc.symbol:ARHGAP18 semapv:UnspecifiedMatching OMIM:613351 ARHGAP18 skos:exactMatch ncbigene:93663 semapv:UnspecifiedMatching -OMIM:613352 RSRC1 skos:exactMatch hgnc:RSRC1 semapv:UnspecifiedMatching +OMIM:613352 RSRC1 skos:exactMatch hgnc.symbol:24152 semapv:UnspecifiedMatching +OMIM:613352 RSRC1 skos:exactMatch hgnc.symbol:RSRC1 semapv:UnspecifiedMatching OMIM:613352 RSRC1 skos:exactMatch ncbigene:51319 semapv:UnspecifiedMatching OMIM:613353 mononeuropathy of the median nerve, mild skos:exactMatch UMLS:C3150596 semapv:UnspecifiedMatching -OMIM:613354 TPRN skos:exactMatch hgnc:TPRN semapv:UnspecifiedMatching +OMIM:613354 TPRN skos:exactMatch hgnc.symbol:26894 semapv:UnspecifiedMatching +OMIM:613354 TPRN skos:exactMatch hgnc.symbol:TPRN semapv:UnspecifiedMatching OMIM:613354 TPRN skos:exactMatch ncbigene:286262 semapv:UnspecifiedMatching -OMIM:613356 TRIL skos:exactMatch hgnc:TRIL semapv:UnspecifiedMatching +OMIM:613356 TRIL skos:exactMatch hgnc.symbol:22200 semapv:UnspecifiedMatching +OMIM:613356 TRIL skos:exactMatch hgnc.symbol:TRIL semapv:UnspecifiedMatching OMIM:613356 TRIL skos:exactMatch ncbigene:9865 semapv:UnspecifiedMatching -OMIM:613357 FIBCD1 skos:exactMatch hgnc:FIBCD1 semapv:UnspecifiedMatching +OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:25922 semapv:UnspecifiedMatching +OMIM:613357 FIBCD1 skos:exactMatch hgnc.symbol:FIBCD1 semapv:UnspecifiedMatching OMIM:613357 FIBCD1 skos:exactMatch ncbigene:84929 semapv:UnspecifiedMatching -OMIM:613358 ALDH16A1 skos:exactMatch hgnc:ALDH16A1 semapv:UnspecifiedMatching +OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:28114 semapv:UnspecifiedMatching +OMIM:613358 ALDH16A1 skos:exactMatch hgnc.symbol:ALDH16A1 semapv:UnspecifiedMatching OMIM:613358 ALDH16A1 skos:exactMatch ncbigene:126133 semapv:UnspecifiedMatching -OMIM:613359 LYPD6 skos:exactMatch hgnc:LYPD6 semapv:UnspecifiedMatching +OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:28751 semapv:UnspecifiedMatching +OMIM:613359 LYPD6 skos:exactMatch hgnc.symbol:LYPD6 semapv:UnspecifiedMatching OMIM:613359 LYPD6 skos:exactMatch ncbigene:130574 semapv:UnspecifiedMatching -OMIM:613360 DRAM2 skos:exactMatch hgnc:DRAM2 semapv:UnspecifiedMatching +OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:28769 semapv:UnspecifiedMatching +OMIM:613360 DRAM2 skos:exactMatch hgnc.symbol:DRAM2 semapv:UnspecifiedMatching OMIM:613360 DRAM2 skos:exactMatch ncbigene:128338 semapv:UnspecifiedMatching -OMIM:613361 SLC18B1 skos:exactMatch hgnc:SLC18B1 semapv:UnspecifiedMatching +OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:21573 semapv:UnspecifiedMatching +OMIM:613361 SLC18B1 skos:exactMatch hgnc.symbol:SLC18B1 semapv:UnspecifiedMatching OMIM:613361 SLC18B1 skos:exactMatch ncbigene:116843 semapv:UnspecifiedMatching -OMIM:613362 CINP skos:exactMatch hgnc:CINP semapv:UnspecifiedMatching +OMIM:613362 CINP skos:exactMatch hgnc.symbol:23789 semapv:UnspecifiedMatching +OMIM:613362 CINP skos:exactMatch hgnc.symbol:CINP semapv:UnspecifiedMatching OMIM:613362 CINP skos:exactMatch ncbigene:51550 semapv:UnspecifiedMatching -OMIM:613363 WDR34 skos:exactMatch hgnc:DYNC2I2 semapv:UnspecifiedMatching +OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:28296 semapv:UnspecifiedMatching +OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:DYNC2I2 semapv:UnspecifiedMatching OMIM:613363 WDR34 skos:exactMatch ncbigene:89891 semapv:UnspecifiedMatching -OMIM:613365 SLCO6A1 skos:exactMatch hgnc:SLCO6A1 semapv:UnspecifiedMatching +OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:23613 semapv:UnspecifiedMatching +OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:SLCO6A1 semapv:UnspecifiedMatching OMIM:613365 SLCO6A1 skos:exactMatch ncbigene:133482 semapv:UnspecifiedMatching -OMIM:613366 SLC10A6 skos:exactMatch hgnc:SLC10A6 semapv:UnspecifiedMatching +OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:30603 semapv:UnspecifiedMatching +OMIM:613366 SLC10A6 skos:exactMatch hgnc.symbol:SLC10A6 semapv:UnspecifiedMatching OMIM:613366 SLC10A6 skos:exactMatch ncbigene:345274 semapv:UnspecifiedMatching -OMIM:613367 LIN54 skos:exactMatch hgnc:LIN54 semapv:UnspecifiedMatching +OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:25397 semapv:UnspecifiedMatching +OMIM:613367 LIN54 skos:exactMatch hgnc.symbol:LIN54 semapv:UnspecifiedMatching OMIM:613367 LIN54 skos:exactMatch ncbigene:132660 semapv:UnspecifiedMatching -OMIM:613368 CARNS1 skos:exactMatch hgnc:CARNS1 semapv:UnspecifiedMatching +OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:29268 semapv:UnspecifiedMatching +OMIM:613368 CARNS1 skos:exactMatch hgnc.symbol:CARNS1 semapv:UnspecifiedMatching OMIM:613368 CARNS1 skos:exactMatch ncbigene:57571 semapv:UnspecifiedMatching OMIM:613369 DDX42 skos:exactMatch UMLS:C1425699 semapv:UnspecifiedMatching -OMIM:613369 DDX42 skos:exactMatch hgnc:DDX42 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:18676 semapv:UnspecifiedMatching +OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:DDX42 semapv:UnspecifiedMatching OMIM:613369 DDX42 skos:exactMatch ncbigene:11325 semapv:UnspecifiedMatching -OMIM:613372 UFL1 skos:exactMatch hgnc:UFL1 semapv:UnspecifiedMatching +OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:23039 semapv:UnspecifiedMatching +OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:UFL1 semapv:UnspecifiedMatching OMIM:613372 UFL1 skos:exactMatch ncbigene:23376 semapv:UnspecifiedMatching -OMIM:613373 YEATS2 skos:exactMatch hgnc:YEATS2 semapv:UnspecifiedMatching +OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:25489 semapv:UnspecifiedMatching +OMIM:613373 YEATS2 skos:exactMatch hgnc.symbol:YEATS2 semapv:UnspecifiedMatching OMIM:613373 YEATS2 skos:exactMatch ncbigene:55689 semapv:UnspecifiedMatching -OMIM:613374 CCDC101 skos:exactMatch hgnc:SGF29 semapv:UnspecifiedMatching +OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:25156 semapv:UnspecifiedMatching +OMIM:613374 CCDC101 skos:exactMatch hgnc.symbol:SGF29 semapv:UnspecifiedMatching OMIM:613374 CCDC101 skos:exactMatch ncbigene:112869 semapv:UnspecifiedMatching +OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch Orphanet:552 semapv:UnspecifiedMatching OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch UMLS:C3150618 semapv:UnspecifiedMatching -OMIM:613375 maturity-onset diabetes of the young, iia 11 skos:exactMatch orphanet.ordo:552 semapv:UnspecifiedMatching OMIM:613377 SH3RF2 skos:exactMatch UMLS:C1428570 semapv:UnspecifiedMatching -OMIM:613377 SH3RF2 skos:exactMatch hgnc:SH3RF2 semapv:UnspecifiedMatching +OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:26299 semapv:UnspecifiedMatching +OMIM:613377 SH3RF2 skos:exactMatch hgnc.symbol:SH3RF2 semapv:UnspecifiedMatching OMIM:613377 SH3RF2 skos:exactMatch ncbigene:153769 semapv:UnspecifiedMatching -OMIM:613378 A2LD1 skos:exactMatch hgnc:GGACT semapv:UnspecifiedMatching +OMIM:613378 A2LD1 skos:exactMatch hgnc.symbol:25100 semapv:UnspecifiedMatching +OMIM:613378 A2LD1 skos:exactMatch hgnc.symbol:GGACT semapv:UnspecifiedMatching OMIM:613378 A2LD1 skos:exactMatch ncbigene:87769 semapv:UnspecifiedMatching -OMIM:613379 CMBL skos:exactMatch hgnc:CMBL semapv:UnspecifiedMatching +OMIM:613379 CMBL skos:exactMatch hgnc.symbol:25090 semapv:UnspecifiedMatching +OMIM:613379 CMBL skos:exactMatch hgnc.symbol:CMBL semapv:UnspecifiedMatching OMIM:613379 CMBL skos:exactMatch ncbigene:134147 semapv:UnspecifiedMatching -OMIM:613380 HMX3 skos:exactMatch hgnc:HMX3 semapv:UnspecifiedMatching +OMIM:613380 HMX3 skos:exactMatch hgnc.symbol:5019 semapv:UnspecifiedMatching +OMIM:613380 HMX3 skos:exactMatch hgnc.symbol:HMX3 semapv:UnspecifiedMatching OMIM:613380 HMX3 skos:exactMatch ncbigene:340784 semapv:UnspecifiedMatching -OMIM:613381 CBS skos:exactMatch hgnc:CBS semapv:UnspecifiedMatching +OMIM:613381 CBS skos:exactMatch hgnc.symbol:1550 semapv:UnspecifiedMatching +OMIM:613381 CBS skos:exactMatch hgnc.symbol:CBS semapv:UnspecifiedMatching OMIM:613381 CBS skos:exactMatch ncbigene:875 semapv:UnspecifiedMatching -OMIM:613383 ANKRD54 skos:exactMatch hgnc:ANKRD54 semapv:UnspecifiedMatching +OMIM:613383 ANKRD54 skos:exactMatch hgnc.symbol:25185 semapv:UnspecifiedMatching +OMIM:613383 ANKRD54 skos:exactMatch hgnc.symbol:ANKRD54 semapv:UnspecifiedMatching OMIM:613383 ANKRD54 skos:exactMatch ncbigene:129138 semapv:UnspecifiedMatching -OMIM:613384 CCNL1 skos:exactMatch hgnc:CCNL1 semapv:UnspecifiedMatching +OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:20569 semapv:UnspecifiedMatching +OMIM:613384 CCNL1 skos:exactMatch hgnc.symbol:CCNL1 semapv:UnspecifiedMatching OMIM:613384 CCNL1 skos:exactMatch ncbigene:57018 semapv:UnspecifiedMatching +OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch Orphanet:228426 semapv:UnspecifiedMatching OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch UMLS:C3150649 semapv:UnspecifiedMatching -OMIM:613385 autoimmune disease, multisystem, with facial dysmorphism skos:exactMatch orphanet.ordo:228426 semapv:UnspecifiedMatching -OMIM:613386 POMP skos:exactMatch hgnc:POMP semapv:UnspecifiedMatching +OMIM:613386 POMP skos:exactMatch hgnc.symbol:20330 semapv:UnspecifiedMatching +OMIM:613386 POMP skos:exactMatch hgnc.symbol:POMP semapv:UnspecifiedMatching OMIM:613386 POMP skos:exactMatch ncbigene:51371 semapv:UnspecifiedMatching -OMIM:613389 SLCO1C1 skos:exactMatch hgnc:SLCO1C1 semapv:UnspecifiedMatching +OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:13819 semapv:UnspecifiedMatching +OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:SLCO1C1 semapv:UnspecifiedMatching OMIM:613389 SLCO1C1 skos:exactMatch ncbigene:53919 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch UMLS:C1537791 semapv:UnspecifiedMatching -OMIM:613394 MIR138-1 skos:exactMatch hgnc:MIR138-1 semapv:UnspecifiedMatching +OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:31524 semapv:UnspecifiedMatching +OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:MIR138-1 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch ncbigene:406929 semapv:UnspecifiedMatching -OMIM:613395 MIR138-2 skos:exactMatch hgnc:MIR138-2 semapv:UnspecifiedMatching +OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:31525 semapv:UnspecifiedMatching +OMIM:613395 MIR138-2 skos:exactMatch hgnc.symbol:MIR138-2 semapv:UnspecifiedMatching OMIM:613395 MIR138-2 skos:exactMatch ncbigene:406930 semapv:UnspecifiedMatching -OMIM:613396 DSCR8 skos:exactMatch hgnc:DSCR8 semapv:UnspecifiedMatching +OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:16707 semapv:UnspecifiedMatching +OMIM:613396 DSCR8 skos:exactMatch hgnc.symbol:DSCR8 semapv:UnspecifiedMatching OMIM:613396 DSCR8 skos:exactMatch ncbigene:84677 semapv:UnspecifiedMatching -OMIM:613397 AVIL skos:exactMatch hgnc:AVIL semapv:UnspecifiedMatching +OMIM:613397 AVIL skos:exactMatch hgnc.symbol:14188 semapv:UnspecifiedMatching +OMIM:613397 AVIL skos:exactMatch hgnc.symbol:AVIL semapv:UnspecifiedMatching OMIM:613397 AVIL skos:exactMatch ncbigene:10677 semapv:UnspecifiedMatching +OMIM:613398 warsaw breakage syndrome skos:exactMatch Orphanet:280558 semapv:UnspecifiedMatching OMIM:613398 warsaw breakage syndrome skos:exactMatch UMLS:C3150658 semapv:UnspecifiedMatching -OMIM:613398 warsaw breakage syndrome skos:exactMatch orphanet.ordo:280558 semapv:UnspecifiedMatching -OMIM:613400 ADI1 skos:exactMatch hgnc:ADI1 semapv:UnspecifiedMatching +OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:30576 semapv:UnspecifiedMatching +OMIM:613400 ADI1 skos:exactMatch hgnc.symbol:ADI1 semapv:UnspecifiedMatching OMIM:613400 ADI1 skos:exactMatch ncbigene:55256 semapv:UnspecifiedMatching -OMIM:613401 VIPAS39 skos:exactMatch hgnc:VIPAS39 semapv:UnspecifiedMatching +OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:20347 semapv:UnspecifiedMatching +OMIM:613401 VIPAS39 skos:exactMatch hgnc.symbol:VIPAS39 semapv:UnspecifiedMatching OMIM:613401 VIPAS39 skos:exactMatch ncbigene:63894 semapv:UnspecifiedMatching +OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch UMLS:C3150667 semapv:UnspecifiedMatching -OMIM:613402 microcephaly, seizures, and developmental delay skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching OMIM:613403 TMEM127 skos:exactMatch UMLS:C1823386 semapv:UnspecifiedMatching OMIM:613403 TMEM127 skos:exactMatch UMLS:C3149711 semapv:UnspecifiedMatching -OMIM:613403 TMEM127 skos:exactMatch hgnc:TMEM127 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:26038 semapv:UnspecifiedMatching +OMIM:613403 TMEM127 skos:exactMatch hgnc.symbol:TMEM127 semapv:UnspecifiedMatching OMIM:613403 TMEM127 skos:exactMatch ncbigene:55654 semapv:UnspecifiedMatching -OMIM:613405 MIR2861 skos:exactMatch hgnc:MIR2861 semapv:UnspecifiedMatching +OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:38221 semapv:UnspecifiedMatching +OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:MIR2861 semapv:UnspecifiedMatching OMIM:613405 MIR2861 skos:exactMatch ncbigene:100422910 semapv:UnspecifiedMatching -OMIM:613408 CCDC122 skos:exactMatch hgnc:CCDC122 semapv:UnspecifiedMatching +OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:26478 semapv:UnspecifiedMatching +OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:CCDC122 semapv:UnspecifiedMatching OMIM:613408 CCDC122 skos:exactMatch ncbigene:160857 semapv:UnspecifiedMatching OMIM:613409 LACC1 skos:exactMatch UMLS:C1824389 semapv:UnspecifiedMatching OMIM:613409 LACC1 skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching -OMIM:613409 LACC1 skos:exactMatch hgnc:LACC1 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:26789 semapv:UnspecifiedMatching +OMIM:613409 LACC1 skos:exactMatch hgnc.symbol:LACC1 semapv:UnspecifiedMatching OMIM:613409 LACC1 skos:exactMatch ncbigene:144811 semapv:UnspecifiedMatching -OMIM:613413 TMEM106B skos:exactMatch hgnc:TMEM106B semapv:UnspecifiedMatching +OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:22407 semapv:UnspecifiedMatching +OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:TMEM106B semapv:UnspecifiedMatching OMIM:613413 TMEM106B skos:exactMatch ncbigene:54664 semapv:UnspecifiedMatching -OMIM:613414 IL17REL skos:exactMatch hgnc:IL17REL semapv:UnspecifiedMatching +OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:33808 semapv:UnspecifiedMatching +OMIM:613414 IL17REL skos:exactMatch hgnc.symbol:IL17REL semapv:UnspecifiedMatching OMIM:613414 IL17REL skos:exactMatch ncbigene:400935 semapv:UnspecifiedMatching -OMIM:613415 CKMT1A skos:exactMatch hgnc:CKMT1A semapv:UnspecifiedMatching +OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:31736 semapv:UnspecifiedMatching +OMIM:613415 CKMT1A skos:exactMatch hgnc.symbol:CKMT1A semapv:UnspecifiedMatching OMIM:613415 CKMT1A skos:exactMatch ncbigene:548596 semapv:UnspecifiedMatching -OMIM:613416 SCIN skos:exactMatch hgnc:SCIN semapv:UnspecifiedMatching +OMIM:613416 SCIN skos:exactMatch hgnc.symbol:21695 semapv:UnspecifiedMatching +OMIM:613416 SCIN skos:exactMatch hgnc.symbol:SCIN semapv:UnspecifiedMatching OMIM:613416 SCIN skos:exactMatch ncbigene:85477 semapv:UnspecifiedMatching -OMIM:613417 FAM48A skos:exactMatch hgnc:SUPT20H semapv:UnspecifiedMatching +OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:20596 semapv:UnspecifiedMatching +OMIM:613417 FAM48A skos:exactMatch hgnc.symbol:SUPT20H semapv:UnspecifiedMatching OMIM:613417 FAM48A skos:exactMatch ncbigene:55578 semapv:UnspecifiedMatching -OMIM:613419 ZSCAN4 skos:exactMatch hgnc:ZSCAN4 semapv:UnspecifiedMatching +OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:23709 semapv:UnspecifiedMatching +OMIM:613419 ZSCAN4 skos:exactMatch hgnc.symbol:ZSCAN4 semapv:UnspecifiedMatching OMIM:613419 ZSCAN4 skos:exactMatch ncbigene:201516 semapv:UnspecifiedMatching OMIM:613420 KCTD1 skos:exactMatch UMLS:C1425395 semapv:UnspecifiedMatching OMIM:613420 KCTD1 skos:exactMatch UMLS:C1867020 semapv:UnspecifiedMatching -OMIM:613420 KCTD1 skos:exactMatch hgnc:KCTD1 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:18249 semapv:UnspecifiedMatching +OMIM:613420 KCTD1 skos:exactMatch hgnc.symbol:KCTD1 semapv:UnspecifiedMatching OMIM:613420 KCTD1 skos:exactMatch ncbigene:284252 semapv:UnspecifiedMatching -OMIM:613421 KCTD10 skos:exactMatch hgnc:KCTD10 semapv:UnspecifiedMatching +OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:23236 semapv:UnspecifiedMatching +OMIM:613421 KCTD10 skos:exactMatch hgnc.symbol:KCTD10 semapv:UnspecifiedMatching OMIM:613421 KCTD10 skos:exactMatch ncbigene:83892 semapv:UnspecifiedMatching -OMIM:613422 KCTD2 skos:exactMatch hgnc:KCTD2 semapv:UnspecifiedMatching +OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:21294 semapv:UnspecifiedMatching +OMIM:613422 KCTD2 skos:exactMatch hgnc.symbol:KCTD2 semapv:UnspecifiedMatching OMIM:613422 KCTD2 skos:exactMatch ncbigene:23510 semapv:UnspecifiedMatching -OMIM:613423 KCTD16 skos:exactMatch hgnc:KCTD16 semapv:UnspecifiedMatching +OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:29244 semapv:UnspecifiedMatching +OMIM:613423 KCTD16 skos:exactMatch hgnc.symbol:KCTD16 semapv:UnspecifiedMatching OMIM:613423 KCTD16 skos:exactMatch ncbigene:57528 semapv:UnspecifiedMatching -OMIM:613425 PCARE skos:exactMatch hgnc:PCARE semapv:UnspecifiedMatching +OMIM:613425 PCARE skos:exactMatch hgnc.symbol:34383 semapv:UnspecifiedMatching +OMIM:613425 PCARE skos:exactMatch hgnc.symbol:PCARE semapv:UnspecifiedMatching OMIM:613425 PCARE skos:exactMatch ncbigene:388939 semapv:UnspecifiedMatching -OMIM:613427 ANAPC16 skos:exactMatch hgnc:ANAPC16 semapv:UnspecifiedMatching +OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:26976 semapv:UnspecifiedMatching +OMIM:613427 ANAPC16 skos:exactMatch hgnc.symbol:ANAPC16 semapv:UnspecifiedMatching OMIM:613427 ANAPC16 skos:exactMatch ncbigene:119504 semapv:UnspecifiedMatching -OMIM:613429 HAUS2 skos:exactMatch hgnc:HAUS2 semapv:UnspecifiedMatching +OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:25530 semapv:UnspecifiedMatching +OMIM:613429 HAUS2 skos:exactMatch hgnc.symbol:HAUS2 semapv:UnspecifiedMatching OMIM:613429 HAUS2 skos:exactMatch ncbigene:55142 semapv:UnspecifiedMatching -OMIM:613430 HAUS3 skos:exactMatch hgnc:HAUS3 semapv:UnspecifiedMatching +OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:28719 semapv:UnspecifiedMatching +OMIM:613430 HAUS3 skos:exactMatch hgnc.symbol:HAUS3 semapv:UnspecifiedMatching OMIM:613430 HAUS3 skos:exactMatch ncbigene:79441 semapv:UnspecifiedMatching -OMIM:613431 HAUS4 skos:exactMatch hgnc:HAUS4 semapv:UnspecifiedMatching +OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:20163 semapv:UnspecifiedMatching +OMIM:613431 HAUS4 skos:exactMatch hgnc.symbol:HAUS4 semapv:UnspecifiedMatching OMIM:613431 HAUS4 skos:exactMatch ncbigene:54930 semapv:UnspecifiedMatching -OMIM:613432 HAUS5 skos:exactMatch hgnc:HAUS5 semapv:UnspecifiedMatching +OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:29130 semapv:UnspecifiedMatching +OMIM:613432 HAUS5 skos:exactMatch hgnc.symbol:HAUS5 semapv:UnspecifiedMatching OMIM:613432 HAUS5 skos:exactMatch ncbigene:23354 semapv:UnspecifiedMatching -OMIM:613433 HAUS6 skos:exactMatch hgnc:HAUS6 semapv:UnspecifiedMatching +OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:25948 semapv:UnspecifiedMatching +OMIM:613433 HAUS6 skos:exactMatch hgnc.symbol:HAUS6 semapv:UnspecifiedMatching OMIM:613433 HAUS6 skos:exactMatch ncbigene:54801 semapv:UnspecifiedMatching -OMIM:613434 HAUS8 skos:exactMatch hgnc:HAUS8 semapv:UnspecifiedMatching +OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:30532 semapv:UnspecifiedMatching +OMIM:613434 HAUS8 skos:exactMatch hgnc.symbol:HAUS8 semapv:UnspecifiedMatching OMIM:613434 HAUS8 skos:exactMatch ncbigene:93323 semapv:UnspecifiedMatching -OMIM:613437 FCHO1 skos:exactMatch hgnc:FCHO1 semapv:UnspecifiedMatching +OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:29002 semapv:UnspecifiedMatching +OMIM:613437 FCHO1 skos:exactMatch hgnc.symbol:FCHO1 semapv:UnspecifiedMatching OMIM:613437 FCHO1 skos:exactMatch ncbigene:23149 semapv:UnspecifiedMatching -OMIM:613438 FCHO2 skos:exactMatch hgnc:FCHO2 semapv:UnspecifiedMatching +OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:25180 semapv:UnspecifiedMatching +OMIM:613438 FCHO2 skos:exactMatch hgnc.symbol:FCHO2 semapv:UnspecifiedMatching OMIM:613438 FCHO2 skos:exactMatch ncbigene:115548 semapv:UnspecifiedMatching -OMIM:613439 CNST skos:exactMatch hgnc:CNST semapv:UnspecifiedMatching +OMIM:613439 CNST skos:exactMatch hgnc.symbol:26486 semapv:UnspecifiedMatching +OMIM:613439 CNST skos:exactMatch hgnc.symbol:CNST semapv:UnspecifiedMatching OMIM:613439 CNST skos:exactMatch ncbigene:163882 semapv:UnspecifiedMatching -OMIM:613441 TCN2 skos:exactMatch hgnc:TCN2 semapv:UnspecifiedMatching +OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:11653 semapv:UnspecifiedMatching +OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:TCN2 semapv:UnspecifiedMatching OMIM:613441 TCN2 skos:exactMatch ncbigene:6948 semapv:UnspecifiedMatching -OMIM:613442 PTX4 skos:exactMatch hgnc:PTX4 semapv:UnspecifiedMatching +OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:14171 semapv:UnspecifiedMatching +OMIM:613442 PTX4 skos:exactMatch hgnc.symbol:PTX4 semapv:UnspecifiedMatching OMIM:613442 PTX4 skos:exactMatch ncbigene:390667 semapv:UnspecifiedMatching -OMIM:613446 CEP120 skos:exactMatch hgnc:CEP120 semapv:UnspecifiedMatching +OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:26690 semapv:UnspecifiedMatching +OMIM:613446 CEP120 skos:exactMatch hgnc.symbol:CEP120 semapv:UnspecifiedMatching OMIM:613446 CEP120 skos:exactMatch ncbigene:153241 semapv:UnspecifiedMatching -OMIM:613447 SPICE1 skos:exactMatch hgnc:SPICE1 semapv:UnspecifiedMatching +OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:25083 semapv:UnspecifiedMatching +OMIM:613447 SPICE1 skos:exactMatch hgnc.symbol:SPICE1 semapv:UnspecifiedMatching OMIM:613447 SPICE1 skos:exactMatch ncbigene:152185 semapv:UnspecifiedMatching -OMIM:613448 MZT1 skos:exactMatch hgnc:MZT1 semapv:UnspecifiedMatching +OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:33830 semapv:UnspecifiedMatching +OMIM:613448 MZT1 skos:exactMatch hgnc.symbol:MZT1 semapv:UnspecifiedMatching OMIM:613448 MZT1 skos:exactMatch ncbigene:440145 semapv:UnspecifiedMatching -OMIM:613449 FAM128A skos:exactMatch hgnc:MZT2A semapv:UnspecifiedMatching +OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:33187 semapv:UnspecifiedMatching +OMIM:613449 FAM128A skos:exactMatch hgnc.symbol:MZT2A semapv:UnspecifiedMatching OMIM:613449 FAM128A skos:exactMatch ncbigene:653784 semapv:UnspecifiedMatching -OMIM:613450 MZT2B skos:exactMatch hgnc:MZT2B semapv:UnspecifiedMatching +OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:25886 semapv:UnspecifiedMatching +OMIM:613450 MZT2B skos:exactMatch hgnc.symbol:MZT2B semapv:UnspecifiedMatching OMIM:613450 MZT2B skos:exactMatch ncbigene:80097 semapv:UnspecifiedMatching +OMIM:613451 frontonasal dysplasia 2 skos:exactMatch Orphanet:228390 semapv:UnspecifiedMatching OMIM:613451 frontonasal dysplasia 2 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching -OMIM:613451 frontonasal dysplasia 2 skos:exactMatch orphanet.ordo:228390 semapv:UnspecifiedMatching -OMIM:613452 CATSPERG skos:exactMatch hgnc:CATSPERG semapv:UnspecifiedMatching +OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:25243 semapv:UnspecifiedMatching +OMIM:613452 CATSPERG skos:exactMatch hgnc.symbol:CATSPERG semapv:UnspecifiedMatching OMIM:613452 CATSPERG skos:exactMatch ncbigene:57828 semapv:UnspecifiedMatching -OMIM:613455 MIA3 skos:exactMatch hgnc:MIA3 semapv:UnspecifiedMatching +OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:24008 semapv:UnspecifiedMatching +OMIM:613455 MIA3 skos:exactMatch hgnc.symbol:MIA3 semapv:UnspecifiedMatching OMIM:613455 MIA3 skos:exactMatch ncbigene:375056 semapv:UnspecifiedMatching +OMIM:613456 frontonasal dysplasia 3 skos:exactMatch Orphanet:306542 semapv:UnspecifiedMatching OMIM:613456 frontonasal dysplasia 3 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching -OMIM:613456 frontonasal dysplasia 3 skos:exactMatch orphanet.ordo:306542 semapv:UnspecifiedMatching -OMIM:613461 LEPROT skos:exactMatch hgnc:LEPROT semapv:UnspecifiedMatching +OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:29477 semapv:UnspecifiedMatching +OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:LEPROT semapv:UnspecifiedMatching OMIM:613461 LEPROT skos:exactMatch ncbigene:54741 semapv:UnspecifiedMatching -OMIM:613465 NME7 skos:exactMatch hgnc:NME7 semapv:UnspecifiedMatching +OMIM:613465 NME7 skos:exactMatch hgnc.symbol:20461 semapv:UnspecifiedMatching +OMIM:613465 NME7 skos:exactMatch hgnc.symbol:NME7 semapv:UnspecifiedMatching OMIM:613465 NME7 skos:exactMatch ncbigene:29922 semapv:UnspecifiedMatching -OMIM:613466 PFDN2 skos:exactMatch hgnc:PFDN2 semapv:UnspecifiedMatching +OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:8867 semapv:UnspecifiedMatching +OMIM:613466 PFDN2 skos:exactMatch hgnc.symbol:PFDN2 semapv:UnspecifiedMatching OMIM:613466 PFDN2 skos:exactMatch ncbigene:5202 semapv:UnspecifiedMatching -OMIM:613467 ZCCHC6 skos:exactMatch hgnc:TUT7 semapv:UnspecifiedMatching +OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:25817 semapv:UnspecifiedMatching +OMIM:613467 ZCCHC6 skos:exactMatch hgnc.symbol:TUT7 semapv:UnspecifiedMatching OMIM:613467 ZCCHC6 skos:exactMatch ncbigene:79670 semapv:UnspecifiedMatching -OMIM:613468 ASAH1 skos:exactMatch hgnc:ASAH1 semapv:UnspecifiedMatching +OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:735 semapv:UnspecifiedMatching +OMIM:613468 ASAH1 skos:exactMatch hgnc.symbol:ASAH1 semapv:UnspecifiedMatching OMIM:613468 ASAH1 skos:exactMatch ncbigene:427 semapv:UnspecifiedMatching -OMIM:613469 HPSE2 skos:exactMatch hgnc:HPSE2 semapv:UnspecifiedMatching +OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:18374 semapv:UnspecifiedMatching +OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:HPSE2 semapv:UnspecifiedMatching OMIM:613469 HPSE2 skos:exactMatch ncbigene:60495 semapv:UnspecifiedMatching +OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch orphanet.ordo:712 semapv:UnspecifiedMatching -OMIM:613472 ULK3 skos:exactMatch hgnc:ULK3 semapv:UnspecifiedMatching +OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:19703 semapv:UnspecifiedMatching +OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:ULK3 semapv:UnspecifiedMatching OMIM:613472 ULK3 skos:exactMatch ncbigene:25989 semapv:UnspecifiedMatching -OMIM:613473 WDR7 skos:exactMatch hgnc:WDR7 semapv:UnspecifiedMatching +OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:13490 semapv:UnspecifiedMatching +OMIM:613473 WDR7 skos:exactMatch hgnc.symbol:WDR7 semapv:UnspecifiedMatching OMIM:613473 WDR7 skos:exactMatch ncbigene:23335 semapv:UnspecifiedMatching -OMIM:613474 ZFAND2B skos:exactMatch hgnc:ZFAND2B semapv:UnspecifiedMatching +OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:25206 semapv:UnspecifiedMatching +OMIM:613474 ZFAND2B skos:exactMatch hgnc.symbol:ZFAND2B semapv:UnspecifiedMatching OMIM:613474 ZFAND2B skos:exactMatch ncbigene:130617 semapv:UnspecifiedMatching -OMIM:613475 RRP36 skos:exactMatch hgnc:RRP36 semapv:UnspecifiedMatching +OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:21374 semapv:UnspecifiedMatching +OMIM:613475 RRP36 skos:exactMatch hgnc.symbol:RRP36 semapv:UnspecifiedMatching OMIM:613475 RRP36 skos:exactMatch ncbigene:88745 semapv:UnspecifiedMatching -OMIM:613476 MFSD6 skos:exactMatch hgnc:MFSD6 semapv:UnspecifiedMatching +OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:24711 semapv:UnspecifiedMatching +OMIM:613476 MFSD6 skos:exactMatch hgnc.symbol:MFSD6 semapv:UnspecifiedMatching OMIM:613476 MFSD6 skos:exactMatch ncbigene:54842 semapv:UnspecifiedMatching +OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch UMLS:C3150731 semapv:UnspecifiedMatching -OMIM:613477 developmental and epileptic encephalopathy 5 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:613478 CCDC106 skos:exactMatch hgnc:CCDC106 semapv:UnspecifiedMatching +OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:30181 semapv:UnspecifiedMatching +OMIM:613478 CCDC106 skos:exactMatch hgnc.symbol:CCDC106 semapv:UnspecifiedMatching OMIM:613478 CCDC106 skos:exactMatch ncbigene:29903 semapv:UnspecifiedMatching -OMIM:613479 CEP131 skos:exactMatch hgnc:CEP131 semapv:UnspecifiedMatching +OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:29511 semapv:UnspecifiedMatching +OMIM:613479 CEP131 skos:exactMatch hgnc.symbol:CEP131 semapv:UnspecifiedMatching OMIM:613479 CEP131 skos:exactMatch ncbigene:22994 semapv:UnspecifiedMatching -OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc:CCDC62 semapv:UnspecifiedMatching +OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:30723 semapv:UnspecifiedMatching +OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch hgnc.symbol:CCDC62 semapv:UnspecifiedMatching OMIM:613481 coiled-coil domain-containing protein 62: ccdc62 skos:exactMatch ncbigene:84660 semapv:UnspecifiedMatching OMIM:613482 CCNL2 skos:exactMatch UMLS:C1427009 semapv:UnspecifiedMatching -OMIM:613482 CCNL2 skos:exactMatch hgnc:CCNL2 semapv:UnspecifiedMatching +OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:20570 semapv:UnspecifiedMatching +OMIM:613482 CCNL2 skos:exactMatch hgnc.symbol:CCNL2 semapv:UnspecifiedMatching OMIM:613482 CCNL2 skos:exactMatch ncbigene:81669 semapv:UnspecifiedMatching -OMIM:613483 BHLHE22 skos:exactMatch hgnc:BHLHE22 semapv:UnspecifiedMatching +OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:11963 semapv:UnspecifiedMatching +OMIM:613483 BHLHE22 skos:exactMatch hgnc.symbol:BHLHE22 semapv:UnspecifiedMatching OMIM:613483 BHLHE22 skos:exactMatch ncbigene:27319 semapv:UnspecifiedMatching OMIM:613484 SPEN skos:exactMatch UMLS:C1539835 semapv:UnspecifiedMatching -OMIM:613484 SPEN skos:exactMatch hgnc:SPEN semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch hgnc.symbol:17575 semapv:UnspecifiedMatching +OMIM:613484 SPEN skos:exactMatch hgnc.symbol:SPEN semapv:UnspecifiedMatching OMIM:613484 SPEN skos:exactMatch ncbigene:23013 semapv:UnspecifiedMatching -OMIM:613486 MIR33B skos:exactMatch hgnc:MIR33B semapv:UnspecifiedMatching +OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:32791 semapv:UnspecifiedMatching +OMIM:613486 MIR33B skos:exactMatch hgnc.symbol:MIR33B semapv:UnspecifiedMatching OMIM:613486 MIR33B skos:exactMatch ncbigene:693120 semapv:UnspecifiedMatching -OMIM:613487 MIR212 skos:exactMatch hgnc:MIR212 semapv:UnspecifiedMatching +OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:31589 semapv:UnspecifiedMatching +OMIM:613487 MIR212 skos:exactMatch hgnc.symbol:MIR212 semapv:UnspecifiedMatching OMIM:613487 MIR212 skos:exactMatch ncbigene:406994 semapv:UnspecifiedMatching -OMIM:613491 ACER1 skos:exactMatch hgnc:ACER1 semapv:UnspecifiedMatching +OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:18356 semapv:UnspecifiedMatching +OMIM:613491 ACER1 skos:exactMatch hgnc.symbol:ACER1 semapv:UnspecifiedMatching OMIM:613491 ACER1 skos:exactMatch ncbigene:125981 semapv:UnspecifiedMatching -OMIM:613492 ACER2 skos:exactMatch hgnc:ACER2 semapv:UnspecifiedMatching +OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:23675 semapv:UnspecifiedMatching +OMIM:613492 ACER2 skos:exactMatch hgnc.symbol:ACER2 semapv:UnspecifiedMatching OMIM:613492 ACER2 skos:exactMatch ncbigene:340485 semapv:UnspecifiedMatching +OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch UMLS:C3150740 semapv:UnspecifiedMatching -OMIM:613495 immunodeficiency, common variable, 5 skos:exactMatch orphanet.ordo:1572 semapv:UnspecifiedMatching -OMIM:613497 LIPA skos:exactMatch hgnc:LIPA semapv:UnspecifiedMatching +OMIM:613497 LIPA skos:exactMatch hgnc.symbol:6617 semapv:UnspecifiedMatching +OMIM:613497 LIPA skos:exactMatch hgnc.symbol:LIPA semapv:UnspecifiedMatching OMIM:613497 LIPA skos:exactMatch ncbigene:3988 semapv:UnspecifiedMatching -OMIM:613499 HIST1H2AA skos:exactMatch hgnc:H2AC1 semapv:UnspecifiedMatching +OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:18729 semapv:UnspecifiedMatching +OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:H2AC1 semapv:UnspecifiedMatching OMIM:613499 HIST1H2AA skos:exactMatch ncbigene:221613 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:229717 semapv:UnspecifiedMatching +OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch Orphanet:33110 semapv:UnspecifiedMatching OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch UMLS:C3150750 semapv:UnspecifiedMatching -OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch orphanet.ordo:229717 semapv:UnspecifiedMatching -OMIM:613500 agammaglobulinemia 2, autosomal recessive skos:exactMatch orphanet.ordo:33110 semapv:UnspecifiedMatching -OMIM:613503 HLA-DQA2 skos:exactMatch hgnc:HLA-DQA2 semapv:UnspecifiedMatching +OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:4943 semapv:UnspecifiedMatching +OMIM:613503 HLA-DQA2 skos:exactMatch hgnc.symbol:HLA-DQA2 semapv:UnspecifiedMatching OMIM:613503 HLA-DQA2 skos:exactMatch ncbigene:3118 semapv:UnspecifiedMatching -OMIM:613504 ZFYVE21 skos:exactMatch hgnc:ZFYVE21 semapv:UnspecifiedMatching +OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:20760 semapv:UnspecifiedMatching +OMIM:613504 ZFYVE21 skos:exactMatch hgnc.symbol:ZFYVE21 semapv:UnspecifiedMatching OMIM:613504 ZFYVE21 skos:exactMatch ncbigene:79038 semapv:UnspecifiedMatching -OMIM:613505 LRRC26 skos:exactMatch hgnc:LRRC26 semapv:UnspecifiedMatching +OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:31409 semapv:UnspecifiedMatching +OMIM:613505 LRRC26 skos:exactMatch hgnc.symbol:LRRC26 semapv:UnspecifiedMatching OMIM:613505 LRRC26 skos:exactMatch ncbigene:389816 semapv:UnspecifiedMatching +OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 semapv:UnspecifiedMatching OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch UMLS:C3150756 semapv:UnspecifiedMatching -OMIM:613509 chromosome 4q21 deletion syndrome skos:exactMatch orphanet.ordo:238750 semapv:UnspecifiedMatching -OMIM:613510 LAMTOR1 skos:exactMatch hgnc:LAMTOR1 semapv:UnspecifiedMatching +OMIM:613510 LAMTOR1 skos:exactMatch hgnc.symbol:26068 semapv:UnspecifiedMatching +OMIM:613510 LAMTOR1 skos:exactMatch hgnc.symbol:LAMTOR1 semapv:UnspecifiedMatching OMIM:613510 LAMTOR1 skos:exactMatch ncbigene:55004 semapv:UnspecifiedMatching -OMIM:613511 SPINK9 skos:exactMatch hgnc:SPINK9 semapv:UnspecifiedMatching +OMIM:613511 SPINK9 skos:exactMatch hgnc.symbol:32951 semapv:UnspecifiedMatching +OMIM:613511 SPINK9 skos:exactMatch hgnc.symbol:SPINK9 semapv:UnspecifiedMatching OMIM:613511 SPINK9 skos:exactMatch ncbigene:643394 semapv:UnspecifiedMatching -OMIM:613512 ZBED6 skos:exactMatch hgnc:ZBED6 semapv:UnspecifiedMatching +OMIM:613512 ZBED6 skos:exactMatch hgnc.symbol:33273 semapv:UnspecifiedMatching +OMIM:613512 ZBED6 skos:exactMatch hgnc.symbol:ZBED6 semapv:UnspecifiedMatching OMIM:613512 ZBED6 skos:exactMatch ncbigene:100381270 semapv:UnspecifiedMatching -OMIM:613513 ZC3H11A skos:exactMatch hgnc:ZC3H11A semapv:UnspecifiedMatching +OMIM:613513 ZC3H11A skos:exactMatch hgnc.symbol:29093 semapv:UnspecifiedMatching +OMIM:613513 ZC3H11A skos:exactMatch hgnc.symbol:ZC3H11A semapv:UnspecifiedMatching OMIM:613513 ZC3H11A skos:exactMatch ncbigene:9877 semapv:UnspecifiedMatching -OMIM:613514 ZP4 skos:exactMatch hgnc:ZP4 semapv:UnspecifiedMatching +OMIM:613514 ZP4 skos:exactMatch hgnc.symbol:15770 semapv:UnspecifiedMatching +OMIM:613514 ZP4 skos:exactMatch hgnc.symbol:ZP4 semapv:UnspecifiedMatching OMIM:613514 ZP4 skos:exactMatch ncbigene:57829 semapv:UnspecifiedMatching OMIM:613515 ATG14 skos:exactMatch UMLS:C3146639 semapv:UnspecifiedMatching -OMIM:613515 ATG14 skos:exactMatch hgnc:ATG14 semapv:UnspecifiedMatching +OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:19962 semapv:UnspecifiedMatching +OMIM:613515 ATG14 skos:exactMatch hgnc.symbol:ATG14 semapv:UnspecifiedMatching OMIM:613515 ATG14 skos:exactMatch ncbigene:22863 semapv:UnspecifiedMatching OMIM:613516 RUBCN skos:exactMatch UMLS:C1537447 semapv:UnspecifiedMatching OMIM:613516 RUBCN skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching -OMIM:613516 RUBCN skos:exactMatch hgnc:RUBCN semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:28991 semapv:UnspecifiedMatching +OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:RUBCN semapv:UnspecifiedMatching OMIM:613516 RUBCN skos:exactMatch ncbigene:9711 semapv:UnspecifiedMatching -OMIM:613520 FGD6 skos:exactMatch hgnc:FGD6 semapv:UnspecifiedMatching +OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:21740 semapv:UnspecifiedMatching +OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:FGD6 semapv:UnspecifiedMatching OMIM:613520 FGD6 skos:exactMatch ncbigene:55785 semapv:UnspecifiedMatching -OMIM:613521 UROD skos:exactMatch hgnc:UROD semapv:UnspecifiedMatching +OMIM:613521 UROD skos:exactMatch hgnc.symbol:12591 semapv:UnspecifiedMatching +OMIM:613521 UROD skos:exactMatch hgnc.symbol:UROD semapv:UnspecifiedMatching OMIM:613521 UROD skos:exactMatch ncbigene:7389 semapv:UnspecifiedMatching -OMIM:613522 OPN1SW skos:exactMatch hgnc:OPN1SW semapv:UnspecifiedMatching +OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:1012 semapv:UnspecifiedMatching +OMIM:613522 OPN1SW skos:exactMatch hgnc.symbol:OPN1SW semapv:UnspecifiedMatching OMIM:613522 OPN1SW skos:exactMatch ncbigene:611 semapv:UnspecifiedMatching -OMIM:613524 SDCCAG8 skos:exactMatch hgnc:SDCCAG8 semapv:UnspecifiedMatching +OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:10671 semapv:UnspecifiedMatching +OMIM:613524 SDCCAG8 skos:exactMatch hgnc.symbol:SDCCAG8 semapv:UnspecifiedMatching OMIM:613524 SDCCAG8 skos:exactMatch ncbigene:10806 semapv:UnspecifiedMatching -OMIM:613525 seek1 gene skos:exactMatch hgnc:PSORS1C1 semapv:UnspecifiedMatching +OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:17202 semapv:UnspecifiedMatching +OMIM:613525 seek1 gene skos:exactMatch hgnc.symbol:PSORS1C1 semapv:UnspecifiedMatching OMIM:613525 seek1 gene skos:exactMatch ncbigene:170679 semapv:UnspecifiedMatching -OMIM:613526 spr1 gene skos:exactMatch hgnc:PSORS1C2 semapv:UnspecifiedMatching +OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:17199 semapv:UnspecifiedMatching +OMIM:613526 spr1 gene skos:exactMatch hgnc.symbol:PSORS1C2 semapv:UnspecifiedMatching OMIM:613526 spr1 gene skos:exactMatch ncbigene:170680 semapv:UnspecifiedMatching -OMIM:613527 DNAJC27 skos:exactMatch hgnc:DNAJC27 semapv:UnspecifiedMatching +OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:30290 semapv:UnspecifiedMatching +OMIM:613527 DNAJC27 skos:exactMatch hgnc.symbol:DNAJC27 semapv:UnspecifiedMatching OMIM:613527 DNAJC27 skos:exactMatch ncbigene:51277 semapv:UnspecifiedMatching -OMIM:613528 SYT9 skos:exactMatch hgnc:SYT9 semapv:UnspecifiedMatching +OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:19265 semapv:UnspecifiedMatching +OMIM:613528 SYT9 skos:exactMatch hgnc.symbol:SYT9 semapv:UnspecifiedMatching OMIM:613528 SYT9 skos:exactMatch ncbigene:143425 semapv:UnspecifiedMatching -OMIM:613529 CEP152 skos:exactMatch hgnc:CEP152 semapv:UnspecifiedMatching +OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:29298 semapv:UnspecifiedMatching +OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:CEP152 semapv:UnspecifiedMatching OMIM:613529 CEP152 skos:exactMatch ncbigene:22995 semapv:UnspecifiedMatching -OMIM:613531 PTENP1 skos:exactMatch hgnc:PTENP1 semapv:UnspecifiedMatching +OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:9589 semapv:UnspecifiedMatching +OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:PTENP1 semapv:UnspecifiedMatching OMIM:613531 PTENP1 skos:exactMatch ncbigene:11191 semapv:UnspecifiedMatching -OMIM:613532 RAB8B skos:exactMatch hgnc:RAB8B semapv:UnspecifiedMatching +OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:30273 semapv:UnspecifiedMatching +OMIM:613532 RAB8B skos:exactMatch hgnc.symbol:RAB8B semapv:UnspecifiedMatching OMIM:613532 RAB8B skos:exactMatch ncbigene:51762 semapv:UnspecifiedMatching -OMIM:613534 FAN1 skos:exactMatch hgnc:FAN1 semapv:UnspecifiedMatching +OMIM:613534 FAN1 skos:exactMatch hgnc.symbol:29170 semapv:UnspecifiedMatching +OMIM:613534 FAN1 skos:exactMatch hgnc.symbol:FAN1 semapv:UnspecifiedMatching OMIM:613534 FAN1 skos:exactMatch ncbigene:22909 semapv:UnspecifiedMatching -OMIM:613535 KIAA0319L skos:exactMatch hgnc:KIAA0319L semapv:UnspecifiedMatching +OMIM:613535 KIAA0319L skos:exactMatch hgnc.symbol:30071 semapv:UnspecifiedMatching +OMIM:613535 KIAA0319L skos:exactMatch hgnc.symbol:KIAA0319L semapv:UnspecifiedMatching OMIM:613535 KIAA0319L skos:exactMatch ncbigene:79932 semapv:UnspecifiedMatching -OMIM:613536 LEKR1 skos:exactMatch hgnc:LEKR1 semapv:UnspecifiedMatching +OMIM:613536 LEKR1 skos:exactMatch hgnc.symbol:33765 semapv:UnspecifiedMatching +OMIM:613536 LEKR1 skos:exactMatch hgnc.symbol:LEKR1 semapv:UnspecifiedMatching OMIM:613536 LEKR1 skos:exactMatch ncbigene:389170 semapv:UnspecifiedMatching -OMIM:613537 NLRC5 skos:exactMatch hgnc:NLRC5 semapv:UnspecifiedMatching +OMIM:613537 NLRC5 skos:exactMatch hgnc.symbol:29933 semapv:UnspecifiedMatching +OMIM:613537 NLRC5 skos:exactMatch hgnc.symbol:NLRC5 semapv:UnspecifiedMatching OMIM:613537 NLRC5 skos:exactMatch ncbigene:84166 semapv:UnspecifiedMatching -OMIM:613538 FEM1A skos:exactMatch hgnc:FEM1A semapv:UnspecifiedMatching +OMIM:613538 FEM1A skos:exactMatch hgnc.symbol:16934 semapv:UnspecifiedMatching +OMIM:613538 FEM1A skos:exactMatch hgnc.symbol:FEM1A semapv:UnspecifiedMatching OMIM:613538 FEM1A skos:exactMatch ncbigene:55527 semapv:UnspecifiedMatching -OMIM:613539 FEM1B skos:exactMatch hgnc:FEM1B semapv:UnspecifiedMatching +OMIM:613539 FEM1B skos:exactMatch hgnc.symbol:3649 semapv:UnspecifiedMatching +OMIM:613539 FEM1B skos:exactMatch hgnc.symbol:FEM1B semapv:UnspecifiedMatching OMIM:613539 FEM1B skos:exactMatch ncbigene:10116 semapv:UnspecifiedMatching -OMIM:613540 SPTSSA skos:exactMatch hgnc:SPTSSA semapv:UnspecifiedMatching +OMIM:613540 SPTSSA skos:exactMatch hgnc.symbol:20361 semapv:UnspecifiedMatching +OMIM:613540 SPTSSA skos:exactMatch hgnc.symbol:SPTSSA semapv:UnspecifiedMatching OMIM:613540 SPTSSA skos:exactMatch ncbigene:171546 semapv:UnspecifiedMatching OMIM:613541 MTRFR skos:exactMatch UMLS:C2240303 semapv:UnspecifiedMatching OMIM:613541 MTRFR skos:exactMatch UMLS:C3150801 semapv:UnspecifiedMatching OMIM:613541 MTRFR skos:exactMatch UMLS:C3539506 semapv:UnspecifiedMatching -OMIM:613541 MTRFR skos:exactMatch hgnc:MTRFR semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch hgnc.symbol:26784 semapv:UnspecifiedMatching +OMIM:613541 MTRFR skos:exactMatch hgnc.symbol:MTRFR semapv:UnspecifiedMatching OMIM:613541 MTRFR skos:exactMatch ncbigene:91574 semapv:UnspecifiedMatching -OMIM:613542 MTRF1L skos:exactMatch hgnc:MTRF1L semapv:UnspecifiedMatching +OMIM:613542 MTRF1L skos:exactMatch hgnc.symbol:21051 semapv:UnspecifiedMatching +OMIM:613542 MTRF1L skos:exactMatch hgnc.symbol:MTRF1L semapv:UnspecifiedMatching OMIM:613542 MTRF1L skos:exactMatch ncbigene:54516 semapv:UnspecifiedMatching -OMIM:613543 SLCO5A1 skos:exactMatch hgnc:SLCO5A1 semapv:UnspecifiedMatching +OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:19046 semapv:UnspecifiedMatching +OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:SLCO5A1 semapv:UnspecifiedMatching OMIM:613543 SLCO5A1 skos:exactMatch ncbigene:81796 semapv:UnspecifiedMatching +OMIM:613550 nephronophthisis 11 skos:exactMatch Orphanet:84081 semapv:UnspecifiedMatching OMIM:613550 nephronophthisis 11 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching -OMIM:613550 nephronophthisis 11 skos:exactMatch orphanet.ordo:84081 semapv:UnspecifiedMatching -OMIM:613552 GSAP skos:exactMatch hgnc:GSAP semapv:UnspecifiedMatching +OMIM:613552 GSAP skos:exactMatch hgnc.symbol:28042 semapv:UnspecifiedMatching +OMIM:613552 GSAP skos:exactMatch hgnc.symbol:GSAP semapv:UnspecifiedMatching OMIM:613552 GSAP skos:exactMatch ncbigene:54103 semapv:UnspecifiedMatching -OMIM:613553 XPNPEP3 skos:exactMatch hgnc:XPNPEP3 semapv:UnspecifiedMatching +OMIM:613553 XPNPEP3 skos:exactMatch hgnc.symbol:28052 semapv:UnspecifiedMatching +OMIM:613553 XPNPEP3 skos:exactMatch hgnc.symbol:XPNPEP3 semapv:UnspecifiedMatching OMIM:613553 XPNPEP3 skos:exactMatch ncbigene:63929 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch UMLS:C2680470 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch UMLS:C5394586 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch UMLS:C5394587 semapv:UnspecifiedMatching -OMIM:613555 TET3 skos:exactMatch hgnc:TET3 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch hgnc.symbol:28313 semapv:UnspecifiedMatching +OMIM:613555 TET3 skos:exactMatch hgnc.symbol:TET3 semapv:UnspecifiedMatching OMIM:613555 TET3 skos:exactMatch ncbigene:200424 semapv:UnspecifiedMatching -OMIM:613556 MIR659 skos:exactMatch hgnc:MIR659 semapv:UnspecifiedMatching +OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:32915 semapv:UnspecifiedMatching +OMIM:613556 MIR659 skos:exactMatch hgnc.symbol:MIR659 semapv:UnspecifiedMatching OMIM:613556 MIR659 skos:exactMatch ncbigene:724029 semapv:UnspecifiedMatching -OMIM:613560 NTMT1 skos:exactMatch hgnc:NTMT1 semapv:UnspecifiedMatching +OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:23373 semapv:UnspecifiedMatching +OMIM:613560 NTMT1 skos:exactMatch hgnc.symbol:NTMT1 semapv:UnspecifiedMatching OMIM:613560 NTMT1 skos:exactMatch ncbigene:28989 semapv:UnspecifiedMatching -OMIM:613562 FCRL6 skos:exactMatch hgnc:FCRL6 semapv:UnspecifiedMatching +OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:31910 semapv:UnspecifiedMatching +OMIM:613562 FCRL6 skos:exactMatch hgnc.symbol:FCRL6 semapv:UnspecifiedMatching OMIM:613562 FCRL6 skos:exactMatch ncbigene:343413 semapv:UnspecifiedMatching -OMIM:613565 UBE4B skos:exactMatch hgnc:UBE4B semapv:UnspecifiedMatching +OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:12500 semapv:UnspecifiedMatching +OMIM:613565 UBE4B skos:exactMatch hgnc.symbol:UBE4B semapv:UnspecifiedMatching OMIM:613565 UBE4B skos:exactMatch ncbigene:10277 semapv:UnspecifiedMatching -OMIM:613567 ZMYM6 skos:exactMatch hgnc:ZMYM6 semapv:UnspecifiedMatching +OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:13050 semapv:UnspecifiedMatching +OMIM:613567 ZMYM6 skos:exactMatch hgnc.symbol:ZMYM6 semapv:UnspecifiedMatching OMIM:613567 ZMYM6 skos:exactMatch ncbigene:9204 semapv:UnspecifiedMatching -OMIM:613568 ZMYM4 skos:exactMatch hgnc:ZMYM4 semapv:UnspecifiedMatching +OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:13055 semapv:UnspecifiedMatching +OMIM:613568 ZMYM4 skos:exactMatch hgnc.symbol:ZMYM4 semapv:UnspecifiedMatching OMIM:613568 ZMYM4 skos:exactMatch ncbigene:9202 semapv:UnspecifiedMatching -OMIM:613569 SUN2 skos:exactMatch hgnc:SUN2 semapv:UnspecifiedMatching +OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:14210 semapv:UnspecifiedMatching +OMIM:613569 SUN2 skos:exactMatch hgnc.symbol:SUN2 semapv:UnspecifiedMatching OMIM:613569 SUN2 skos:exactMatch ncbigene:25777 semapv:UnspecifiedMatching -OMIM:613570 LDAH skos:exactMatch hgnc:LDAH semapv:UnspecifiedMatching +OMIM:613570 LDAH skos:exactMatch hgnc.symbol:26145 semapv:UnspecifiedMatching +OMIM:613570 LDAH skos:exactMatch hgnc.symbol:LDAH semapv:UnspecifiedMatching OMIM:613570 LDAH skos:exactMatch ncbigene:60526 semapv:UnspecifiedMatching -OMIM:613572 GPRC6A skos:exactMatch hgnc:GPRC6A semapv:UnspecifiedMatching +OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:18510 semapv:UnspecifiedMatching +OMIM:613572 GPRC6A skos:exactMatch hgnc.symbol:GPRC6A semapv:UnspecifiedMatching OMIM:613572 GPRC6A skos:exactMatch ncbigene:222545 semapv:UnspecifiedMatching -OMIM:613574 TTC39B skos:exactMatch hgnc:TTC39B semapv:UnspecifiedMatching +OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:23704 semapv:UnspecifiedMatching +OMIM:613574 TTC39B skos:exactMatch hgnc.symbol:TTC39B semapv:UnspecifiedMatching OMIM:613574 TTC39B skos:exactMatch ncbigene:158219 semapv:UnspecifiedMatching +OMIM:613575 retinitis pigmentosa 55 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:613575 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching -OMIM:613575 retinitis pigmentosa 55 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1823245 semapv:UnspecifiedMatching @@ -33846,72 +47308,94 @@ OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1842531 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C2829265 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C3892048 semapv:UnspecifiedMatching -OMIM:613577 TBC1D24 skos:exactMatch hgnc:TBC1D24 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:29203 semapv:UnspecifiedMatching +OMIM:613577 TBC1D24 skos:exactMatch hgnc.symbol:TBC1D24 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch ncbigene:57465 semapv:UnspecifiedMatching -OMIM:613578 PRSS3 skos:exactMatch hgnc:PRSS3 semapv:UnspecifiedMatching +OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:9486 semapv:UnspecifiedMatching +OMIM:613578 PRSS3 skos:exactMatch hgnc.symbol:PRSS3 semapv:UnspecifiedMatching OMIM:613578 PRSS3 skos:exactMatch ncbigene:5646 semapv:UnspecifiedMatching -OMIM:613579 CLEC6A skos:exactMatch hgnc:CLEC6A semapv:UnspecifiedMatching +OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:14556 semapv:UnspecifiedMatching +OMIM:613579 CLEC6A skos:exactMatch hgnc.symbol:CLEC6A semapv:UnspecifiedMatching OMIM:613579 CLEC6A skos:exactMatch ncbigene:93978 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch UMLS:C1857587 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch UMLS:C2681211 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch UMLS:C3150127 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch UMLS:C4017315 semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch UMLS:C4017316 semapv:UnspecifiedMatching -OMIM:613580 WDPCP skos:exactMatch hgnc:WDPCP semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:28027 semapv:UnspecifiedMatching +OMIM:613580 WDPCP skos:exactMatch hgnc.symbol:WDPCP semapv:UnspecifiedMatching OMIM:613580 WDPCP skos:exactMatch ncbigene:51057 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch UMLS:C1823826 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch UMLS:C1858535 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch UMLS:C3501830 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch UMLS:C4017318 semapv:UnspecifiedMatching -OMIM:613583 WDR62 skos:exactMatch hgnc:WDR62 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:24502 semapv:UnspecifiedMatching +OMIM:613583 WDR62 skos:exactMatch hgnc.symbol:WDR62 semapv:UnspecifiedMatching OMIM:613583 WDR62 skos:exactMatch ncbigene:284403 semapv:UnspecifiedMatching -OMIM:613584 ALDH1L2 skos:exactMatch hgnc:ALDH1L2 semapv:UnspecifiedMatching +OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:26777 semapv:UnspecifiedMatching +OMIM:613584 ALDH1L2 skos:exactMatch hgnc.symbol:ALDH1L2 semapv:UnspecifiedMatching OMIM:613584 ALDH1L2 skos:exactMatch ncbigene:160428 semapv:UnspecifiedMatching -OMIM:613585 TMEM147 skos:exactMatch hgnc:TMEM147 semapv:UnspecifiedMatching +OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:30414 semapv:UnspecifiedMatching +OMIM:613585 TMEM147 skos:exactMatch hgnc.symbol:TMEM147 semapv:UnspecifiedMatching OMIM:613585 TMEM147 skos:exactMatch ncbigene:10430 semapv:UnspecifiedMatching -OMIM:613586 NOB1 skos:exactMatch hgnc:NOB1 semapv:UnspecifiedMatching +OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:29540 semapv:UnspecifiedMatching +OMIM:613586 NOB1 skos:exactMatch hgnc.symbol:NOB1 semapv:UnspecifiedMatching OMIM:613586 NOB1 skos:exactMatch ncbigene:28987 semapv:UnspecifiedMatching +OMIM:613587 occult macular dystrophy skos:exactMatch Orphanet:247834 semapv:UnspecifiedMatching OMIM:613587 occult macular dystrophy skos:exactMatch UMLS:C3150833 semapv:UnspecifiedMatching -OMIM:613587 occult macular dystrophy skos:exactMatch orphanet.ordo:247834 semapv:UnspecifiedMatching -OMIM:613588 CLEC3A skos:exactMatch hgnc:CLEC3A semapv:UnspecifiedMatching +OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:2052 semapv:UnspecifiedMatching +OMIM:613588 CLEC3A skos:exactMatch hgnc.symbol:CLEC3A semapv:UnspecifiedMatching OMIM:613588 CLEC3A skos:exactMatch ncbigene:10143 semapv:UnspecifiedMatching OMIM:613590 BTN2A1 skos:exactMatch UMLS:C1412843 semapv:UnspecifiedMatching -OMIM:613590 BTN2A1 skos:exactMatch hgnc:BTN2A1 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:1136 semapv:UnspecifiedMatching +OMIM:613590 BTN2A1 skos:exactMatch hgnc.symbol:BTN2A1 semapv:UnspecifiedMatching OMIM:613590 BTN2A1 skos:exactMatch ncbigene:11120 semapv:UnspecifiedMatching -OMIM:613591 BTN2A2 skos:exactMatch hgnc:BTN2A2 semapv:UnspecifiedMatching +OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:1137 semapv:UnspecifiedMatching +OMIM:613591 BTN2A2 skos:exactMatch hgnc.symbol:BTN2A2 semapv:UnspecifiedMatching OMIM:613591 BTN2A2 skos:exactMatch ncbigene:10385 semapv:UnspecifiedMatching -OMIM:613592 BTN2A3 skos:exactMatch hgnc:BTN2A3P semapv:UnspecifiedMatching +OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:13229 semapv:UnspecifiedMatching +OMIM:613592 BTN2A3 skos:exactMatch hgnc.symbol:BTN2A3P semapv:UnspecifiedMatching OMIM:613592 BTN2A3 skos:exactMatch ncbigene:54718 semapv:UnspecifiedMatching OMIM:613593 BTN3A1 skos:exactMatch UMLS:C1412845 semapv:UnspecifiedMatching -OMIM:613593 BTN3A1 skos:exactMatch hgnc:BTN3A1 semapv:UnspecifiedMatching +OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:1138 semapv:UnspecifiedMatching +OMIM:613593 BTN3A1 skos:exactMatch hgnc.symbol:BTN3A1 semapv:UnspecifiedMatching OMIM:613593 BTN3A1 skos:exactMatch ncbigene:11119 semapv:UnspecifiedMatching -OMIM:613594 BTN3A2 skos:exactMatch hgnc:BTN3A2 semapv:UnspecifiedMatching +OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:1139 semapv:UnspecifiedMatching +OMIM:613594 BTN3A2 skos:exactMatch hgnc.symbol:BTN3A2 semapv:UnspecifiedMatching OMIM:613594 BTN3A2 skos:exactMatch ncbigene:11118 semapv:UnspecifiedMatching -OMIM:613595 BTN3A3 skos:exactMatch hgnc:BTN3A3 semapv:UnspecifiedMatching +OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:1140 semapv:UnspecifiedMatching +OMIM:613595 BTN3A3 skos:exactMatch hgnc.symbol:BTN3A3 semapv:UnspecifiedMatching OMIM:613595 BTN3A3 skos:exactMatch ncbigene:10384 semapv:UnspecifiedMatching OMIM:613596 FAM161A skos:exactMatch UMLS:C1419614 semapv:UnspecifiedMatching OMIM:613596 FAM161A skos:exactMatch UMLS:C2681489 semapv:UnspecifiedMatching -OMIM:613596 FAM161A skos:exactMatch hgnc:FAM161A semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:25808 semapv:UnspecifiedMatching +OMIM:613596 FAM161A skos:exactMatch hgnc.symbol:FAM161A semapv:UnspecifiedMatching OMIM:613596 FAM161A skos:exactMatch ncbigene:84140 semapv:UnspecifiedMatching -OMIM:613597 HOGA1 skos:exactMatch hgnc:HOGA1 semapv:UnspecifiedMatching +OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:25155 semapv:UnspecifiedMatching +OMIM:613597 HOGA1 skos:exactMatch hgnc.symbol:HOGA1 semapv:UnspecifiedMatching OMIM:613597 HOGA1 skos:exactMatch ncbigene:112817 semapv:UnspecifiedMatching -OMIM:613598 ZNF513 skos:exactMatch hgnc:ZNF513 semapv:UnspecifiedMatching +OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:26498 semapv:UnspecifiedMatching +OMIM:613598 ZNF513 skos:exactMatch hgnc.symbol:ZNF513 semapv:UnspecifiedMatching OMIM:613598 ZNF513 skos:exactMatch ncbigene:130557 semapv:UnspecifiedMatching OMIM:613599 ABHD12 skos:exactMatch UMLS:C1825822 semapv:UnspecifiedMatching OMIM:613599 ABHD12 skos:exactMatch UMLS:C2675204 semapv:UnspecifiedMatching -OMIM:613599 ABHD12 skos:exactMatch hgnc:ABHD12 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:15868 semapv:UnspecifiedMatching +OMIM:613599 ABHD12 skos:exactMatch hgnc.symbol:ABHD12 semapv:UnspecifiedMatching OMIM:613599 ABHD12 skos:exactMatch ncbigene:26090 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C1428820 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C4017319 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C4694035 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching -OMIM:613602 WDR35 skos:exactMatch hgnc:WDR35 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:29250 semapv:UnspecifiedMatching +OMIM:613602 WDR35 skos:exactMatch hgnc.symbol:WDR35 semapv:UnspecifiedMatching OMIM:613602 WDR35 skos:exactMatch ncbigene:57539 semapv:UnspecifiedMatching OMIM:613603 chromosome 4q32.1-q32.2 triplication syndrome skos:exactMatch UMLS:C3150857 semapv:UnspecifiedMatching -OMIM:613605 BBIP1 skos:exactMatch hgnc:BBIP1 semapv:UnspecifiedMatching +OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:28093 semapv:UnspecifiedMatching +OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:BBIP1 semapv:UnspecifiedMatching OMIM:613605 BBIP1 skos:exactMatch ncbigene:92482 semapv:UnspecifiedMatching -OMIM:613607 THEMIS skos:exactMatch hgnc:THEMIS semapv:UnspecifiedMatching +OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:21569 semapv:UnspecifiedMatching +OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:THEMIS semapv:UnspecifiedMatching OMIM:613607 THEMIS skos:exactMatch ncbigene:387357 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C1384665 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C1856170 semapv:UnspecifiedMatching @@ -33923,146 +47407,194 @@ OMIM:613609 HFE skos:exactMatch UMLS:C3280096 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C3469186 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C4017321 semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch UMLS:C4017322 semapv:UnspecifiedMatching -OMIM:613609 HFE skos:exactMatch hgnc:HFE semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch hgnc.symbol:4886 semapv:UnspecifiedMatching +OMIM:613609 HFE skos:exactMatch hgnc.symbol:HFE semapv:UnspecifiedMatching OMIM:613609 HFE skos:exactMatch ncbigene:3077 semapv:UnspecifiedMatching +OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch UMLS:C3150874 semapv:UnspecifiedMatching -OMIM:613610 cranioectodermal dysplasia 2 skos:exactMatch orphanet.ordo:1515 semapv:UnspecifiedMatching +OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch Orphanet:263487 semapv:UnspecifiedMatching OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch UMLS:C3150876 semapv:UnspecifiedMatching -OMIM:613612 congenital disorder of glycosylation, iia iii skos:exactMatch orphanet.ordo:263487 semapv:UnspecifiedMatching -OMIM:613613 MIR208B skos:exactMatch hgnc:MIR208B semapv:UnspecifiedMatching +OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:33669 semapv:UnspecifiedMatching +OMIM:613613 MIR208B skos:exactMatch hgnc.symbol:MIR208B semapv:UnspecifiedMatching OMIM:613613 MIR208B skos:exactMatch ncbigene:100126336 semapv:UnspecifiedMatching -OMIM:613614 MIR499 skos:exactMatch hgnc:MIR499A semapv:UnspecifiedMatching +OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:32133 semapv:UnspecifiedMatching +OMIM:613614 MIR499 skos:exactMatch hgnc.symbol:MIR499A semapv:UnspecifiedMatching OMIM:613614 MIR499 skos:exactMatch ncbigene:574501 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:416 semapv:UnspecifiedMatching +OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch Orphanet:93600 semapv:UnspecifiedMatching OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch UMLS:C3150878 semapv:UnspecifiedMatching -OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch orphanet.ordo:416 semapv:UnspecifiedMatching -OMIM:613616 hyperoxaluria, primary, iia 3 skos:exactMatch orphanet.ordo:93600 semapv:UnspecifiedMatching -OMIM:613619 SCARF2 skos:exactMatch hgnc:SCARF2 semapv:UnspecifiedMatching +OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:19869 semapv:UnspecifiedMatching +OMIM:613619 SCARF2 skos:exactMatch hgnc.symbol:SCARF2 semapv:UnspecifiedMatching OMIM:613619 SCARF2 skos:exactMatch ncbigene:91179 semapv:UnspecifiedMatching -OMIM:613620 TBC1D10B skos:exactMatch hgnc:TBC1D10B semapv:UnspecifiedMatching +OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:24510 semapv:UnspecifiedMatching +OMIM:613620 TBC1D10B skos:exactMatch hgnc.symbol:TBC1D10B semapv:UnspecifiedMatching OMIM:613620 TBC1D10B skos:exactMatch ncbigene:26000 semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch UMLS:C1538495 semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching -OMIM:613621 NUBPL skos:exactMatch hgnc:NUBPL semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:20278 semapv:UnspecifiedMatching +OMIM:613621 NUBPL skos:exactMatch hgnc.symbol:NUBPL semapv:UnspecifiedMatching OMIM:613621 NUBPL skos:exactMatch ncbigene:80224 semapv:UnspecifiedMatching -OMIM:613622 FOXRED1 skos:exactMatch hgnc:FOXRED1 semapv:UnspecifiedMatching +OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:26927 semapv:UnspecifiedMatching +OMIM:613622 FOXRED1 skos:exactMatch hgnc.symbol:FOXRED1 semapv:UnspecifiedMatching OMIM:613622 FOXRED1 skos:exactMatch ncbigene:55572 semapv:UnspecifiedMatching -OMIM:613624 ZNF592 skos:exactMatch hgnc:ZNF592 semapv:UnspecifiedMatching +OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:28986 semapv:UnspecifiedMatching +OMIM:613624 ZNF592 skos:exactMatch hgnc.symbol:ZNF592 semapv:UnspecifiedMatching OMIM:613624 ZNF592 skos:exactMatch ncbigene:9640 semapv:UnspecifiedMatching -OMIM:613629 PIEZO2 skos:exactMatch hgnc:PIEZO2 semapv:UnspecifiedMatching +OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:26270 semapv:UnspecifiedMatching +OMIM:613629 PIEZO2 skos:exactMatch hgnc.symbol:PIEZO2 semapv:UnspecifiedMatching OMIM:613629 PIEZO2 skos:exactMatch ncbigene:63895 semapv:UnspecifiedMatching +OMIM:613630 fetal encasement syndrome skos:exactMatch Orphanet:465824 semapv:UnspecifiedMatching OMIM:613630 fetal encasement syndrome skos:exactMatch UMLS:C3150891 semapv:UnspecifiedMatching -OMIM:613630 fetal encasement syndrome skos:exactMatch orphanet.ordo:465824 semapv:UnspecifiedMatching -OMIM:613631 WASHC2C skos:exactMatch hgnc:WASHC2C semapv:UnspecifiedMatching +OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:23414 semapv:UnspecifiedMatching +OMIM:613631 WASHC2C skos:exactMatch hgnc.symbol:WASHC2C semapv:UnspecifiedMatching OMIM:613631 WASHC2C skos:exactMatch ncbigene:253725 semapv:UnspecifiedMatching -OMIM:613632 WASHC1 skos:exactMatch hgnc:WASHC1 semapv:UnspecifiedMatching +OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:24361 semapv:UnspecifiedMatching +OMIM:613632 WASHC1 skos:exactMatch hgnc.symbol:WASHC1 semapv:UnspecifiedMatching OMIM:613632 WASHC1 skos:exactMatch ncbigene:100287171 semapv:UnspecifiedMatching -OMIM:613633 DENND1A skos:exactMatch hgnc:DENND1A semapv:UnspecifiedMatching +OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:29324 semapv:UnspecifiedMatching +OMIM:613633 DENND1A skos:exactMatch hgnc.symbol:DENND1A semapv:UnspecifiedMatching OMIM:613633 DENND1A skos:exactMatch ncbigene:57706 semapv:UnspecifiedMatching -OMIM:613634 DENND1C skos:exactMatch hgnc:DENND1C semapv:UnspecifiedMatching +OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:26225 semapv:UnspecifiedMatching +OMIM:613634 DENND1C skos:exactMatch hgnc.symbol:DENND1C semapv:UnspecifiedMatching OMIM:613634 DENND1C skos:exactMatch ncbigene:79958 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C1539340 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching -OMIM:613635 EIF2AK1 skos:exactMatch hgnc:EIF2AK1 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:24921 semapv:UnspecifiedMatching +OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:EIF2AK1 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch ncbigene:27102 semapv:UnspecifiedMatching -OMIM:613639 ADGRD1 skos:exactMatch hgnc:ADGRD1 semapv:UnspecifiedMatching +OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:19893 semapv:UnspecifiedMatching +OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:ADGRD1 semapv:UnspecifiedMatching OMIM:613639 ADGRD1 skos:exactMatch ncbigene:283383 semapv:UnspecifiedMatching +OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch Orphanet:154 semapv:UnspecifiedMatching OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch UMLS:C3150898 semapv:UnspecifiedMatching -OMIM:613642 cardiomyopathy, dilated, 1gg skos:exactMatch orphanet.ordo:154 semapv:UnspecifiedMatching -OMIM:613644 ATF7IP skos:exactMatch hgnc:ATF7IP semapv:UnspecifiedMatching +OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:20092 semapv:UnspecifiedMatching +OMIM:613644 ATF7IP skos:exactMatch hgnc.symbol:ATF7IP semapv:UnspecifiedMatching OMIM:613644 ATF7IP skos:exactMatch ncbigene:55729 semapv:UnspecifiedMatching -OMIM:613645 ATF7IP2 skos:exactMatch hgnc:ATF7IP2 semapv:UnspecifiedMatching +OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:20397 semapv:UnspecifiedMatching +OMIM:613645 ATF7IP2 skos:exactMatch hgnc.symbol:ATF7IP2 semapv:UnspecifiedMatching OMIM:613645 ATF7IP2 skos:exactMatch ncbigene:80063 semapv:UnspecifiedMatching -OMIM:613648 MEG8 skos:exactMatch hgnc:MEG8 semapv:UnspecifiedMatching +OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:14574 semapv:UnspecifiedMatching +OMIM:613648 MEG8 skos:exactMatch hgnc.symbol:MEG8 semapv:UnspecifiedMatching OMIM:613648 MEG8 skos:exactMatch ncbigene:79104 semapv:UnspecifiedMatching -OMIM:613649 SNORD112 skos:exactMatch hgnc:SNORD112 semapv:UnspecifiedMatching +OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:32777 semapv:UnspecifiedMatching +OMIM:613649 SNORD112 skos:exactMatch hgnc.symbol:SNORD112 semapv:UnspecifiedMatching OMIM:613649 SNORD112 skos:exactMatch ncbigene:692215 semapv:UnspecifiedMatching -OMIM:613650 SNORD113-1 skos:exactMatch hgnc:SNORD113-1 semapv:UnspecifiedMatching +OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:32980 semapv:UnspecifiedMatching +OMIM:613650 SNORD113-1 skos:exactMatch hgnc.symbol:SNORD113-1 semapv:UnspecifiedMatching OMIM:613650 SNORD113-1 skos:exactMatch ncbigene:767561 semapv:UnspecifiedMatching -OMIM:613651 SNORD114-1 skos:exactMatch hgnc:SNORD114-1 semapv:UnspecifiedMatching +OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:32989 semapv:UnspecifiedMatching +OMIM:613651 SNORD114-1 skos:exactMatch hgnc.symbol:SNORD114-1 semapv:UnspecifiedMatching OMIM:613651 SNORD114-1 skos:exactMatch ncbigene:767577 semapv:UnspecifiedMatching -OMIM:613653 AP5Z1 skos:exactMatch hgnc:AP5Z1 semapv:UnspecifiedMatching +OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:22197 semapv:UnspecifiedMatching +OMIM:613653 AP5Z1 skos:exactMatch hgnc.symbol:AP5Z1 semapv:UnspecifiedMatching OMIM:613653 AP5Z1 skos:exactMatch ncbigene:9907 semapv:UnspecifiedMatching -OMIM:613654 MIR380 skos:exactMatch hgnc:MIR380 semapv:UnspecifiedMatching +OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:31873 semapv:UnspecifiedMatching +OMIM:613654 MIR380 skos:exactMatch hgnc.symbol:MIR380 semapv:UnspecifiedMatching OMIM:613654 MIR380 skos:exactMatch ncbigene:494329 semapv:UnspecifiedMatching OMIM:613655 KCNK18 skos:exactMatch UMLS:C1537435 semapv:UnspecifiedMatching OMIM:613655 KCNK18 skos:exactMatch UMLS:C4225479 semapv:UnspecifiedMatching -OMIM:613655 KCNK18 skos:exactMatch hgnc:KCNK18 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:19439 semapv:UnspecifiedMatching +OMIM:613655 KCNK18 skos:exactMatch hgnc.symbol:KCNK18 semapv:UnspecifiedMatching OMIM:613655 KCNK18 skos:exactMatch ncbigene:338567 semapv:UnspecifiedMatching OMIM:613656 migraine with aura, susceptibility to, 13 skos:exactMatch UMLS:C3150908 semapv:UnspecifiedMatching +OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C3150910 semapv:UnspecifiedMatching OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch UMLS:C5436276 semapv:UnspecifiedMatching -OMIM:613658 rajab interstitial lung disease with brain calcifications 1 skos:exactMatch orphanet.ordo:178506 semapv:UnspecifiedMatching +OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch Orphanet:280071 semapv:UnspecifiedMatching OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching -OMIM:613661 congenital disorder of glycosylation, iia ip skos:exactMatch orphanet.ordo:280071 semapv:UnspecifiedMatching -OMIM:613663 SHQ1 skos:exactMatch hgnc:SHQ1 semapv:UnspecifiedMatching +OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:25543 semapv:UnspecifiedMatching +OMIM:613663 SHQ1 skos:exactMatch hgnc.symbol:SHQ1 semapv:UnspecifiedMatching OMIM:613663 SHQ1 skos:exactMatch ncbigene:55164 semapv:UnspecifiedMatching -OMIM:613664 SMTNL1 skos:exactMatch hgnc:SMTNL1 semapv:UnspecifiedMatching +OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:32394 semapv:UnspecifiedMatching +OMIM:613664 SMTNL1 skos:exactMatch hgnc.symbol:SMTNL1 semapv:UnspecifiedMatching OMIM:613664 SMTNL1 skos:exactMatch ncbigene:219537 semapv:UnspecifiedMatching -OMIM:613665 ACKR1 skos:exactMatch hgnc:ACKR1 semapv:UnspecifiedMatching +OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:4035 semapv:UnspecifiedMatching +OMIM:613665 ACKR1 skos:exactMatch hgnc.symbol:ACKR1 semapv:UnspecifiedMatching OMIM:613665 ACKR1 skos:exactMatch ncbigene:2532 semapv:UnspecifiedMatching OMIM:613666 ALG11 skos:exactMatch UMLS:C1876205 semapv:UnspecifiedMatching OMIM:613666 ALG11 skos:exactMatch UMLS:C3150913 semapv:UnspecifiedMatching -OMIM:613666 ALG11 skos:exactMatch hgnc:ALG11 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:32456 semapv:UnspecifiedMatching +OMIM:613666 ALG11 skos:exactMatch hgnc.symbol:ALG11 semapv:UnspecifiedMatching OMIM:613666 ALG11 skos:exactMatch ncbigene:440138 semapv:UnspecifiedMatching -OMIM:613667 SOBP skos:exactMatch hgnc:SOBP semapv:UnspecifiedMatching +OMIM:613667 SOBP skos:exactMatch hgnc.symbol:29256 semapv:UnspecifiedMatching +OMIM:613667 SOBP skos:exactMatch hgnc.symbol:SOBP semapv:UnspecifiedMatching OMIM:613667 SOBP skos:exactMatch ncbigene:55084 semapv:UnspecifiedMatching -OMIM:613669 MTPAP skos:exactMatch hgnc:MTPAP semapv:UnspecifiedMatching +OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:25532 semapv:UnspecifiedMatching +OMIM:613669 MTPAP skos:exactMatch hgnc.symbol:MTPAP semapv:UnspecifiedMatching OMIM:613669 MTPAP skos:exactMatch ncbigene:55149 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, iia 4 skos:exactMatch orphanet.ordo:293825 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:636 semapv:UnspecifiedMatching +OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:97685 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch UMLS:C3150928 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch orphanet.ordo:137634 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch orphanet.ordo:636 semapv:UnspecifiedMatching -OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch orphanet.ordo:97685 semapv:UnspecifiedMatching +OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch Orphanet:363444 semapv:UnspecifiedMatching OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching -OMIM:613680 beaulieu-boycott-innes syndrome skos:exactMatch orphanet.ordo:363444 semapv:UnspecifiedMatching -OMIM:613682 MIR130B skos:exactMatch hgnc:MIR130B semapv:UnspecifiedMatching +OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:31515 semapv:UnspecifiedMatching +OMIM:613682 MIR130B skos:exactMatch hgnc.symbol:MIR130B semapv:UnspecifiedMatching OMIM:613682 MIR130B skos:exactMatch ncbigene:406920 semapv:UnspecifiedMatching -OMIM:613683 SLC50A1 skos:exactMatch hgnc:SLC50A1 semapv:UnspecifiedMatching +OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:30657 semapv:UnspecifiedMatching +OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:SLC50A1 semapv:UnspecifiedMatching OMIM:613683 SLC50A1 skos:exactMatch ncbigene:55974 semapv:UnspecifiedMatching -OMIM:613687 PARPBP skos:exactMatch hgnc:PARPBP semapv:UnspecifiedMatching +OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:26074 semapv:UnspecifiedMatching +OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:PARPBP semapv:UnspecifiedMatching OMIM:613687 PARPBP skos:exactMatch ncbigene:55010 semapv:UnspecifiedMatching +OMIM:613689 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching OMIM:613689 mammary-digital-nail syndrome skos:exactMatch UMLS:C3150946 semapv:UnspecifiedMatching -OMIM:613689 mammary-digital-nail syndrome skos:exactMatch orphanet.ordo:238744 semapv:UnspecifiedMatching OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch UMLS:C1860752 semapv:UnspecifiedMatching -OMIM:613691 GRAMD4 skos:exactMatch hgnc:GRAMD4 semapv:UnspecifiedMatching +OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:29113 semapv:UnspecifiedMatching +OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:GRAMD4 semapv:UnspecifiedMatching OMIM:613691 GRAMD4 skos:exactMatch ncbigene:23151 semapv:UnspecifiedMatching -OMIM:613692 TUT4 skos:exactMatch hgnc:TUT4 semapv:UnspecifiedMatching +OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:28981 semapv:UnspecifiedMatching +OMIM:613692 TUT4 skos:exactMatch hgnc.symbol:TUT4 semapv:UnspecifiedMatching OMIM:613692 TUT4 skos:exactMatch ncbigene:23318 semapv:UnspecifiedMatching -OMIM:613696 UBTFL1 skos:exactMatch hgnc:UBTFL1 semapv:UnspecifiedMatching +OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:14533 semapv:UnspecifiedMatching +OMIM:613696 UBTFL1 skos:exactMatch hgnc.symbol:UBTFL1 semapv:UnspecifiedMatching OMIM:613696 UBTFL1 skos:exactMatch ncbigene:642623 semapv:UnspecifiedMatching -OMIM:613698 SLC25A20 skos:exactMatch hgnc:SLC25A20 semapv:UnspecifiedMatching +OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:1421 semapv:UnspecifiedMatching +OMIM:613698 SLC25A20 skos:exactMatch hgnc.symbol:SLC25A20 semapv:UnspecifiedMatching OMIM:613698 SLC25A20 skos:exactMatch ncbigene:788 semapv:UnspecifiedMatching -OMIM:613699 GLT6D1 skos:exactMatch hgnc:GLT6D1 semapv:UnspecifiedMatching +OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:23671 semapv:UnspecifiedMatching +OMIM:613699 GLT6D1 skos:exactMatch hgnc.symbol:GLT6D1 semapv:UnspecifiedMatching OMIM:613699 GLT6D1 skos:exactMatch ncbigene:360203 semapv:UnspecifiedMatching -OMIM:613701 MIR328 skos:exactMatch hgnc:MIR328 semapv:UnspecifiedMatching +OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:31770 semapv:UnspecifiedMatching +OMIM:613701 MIR328 skos:exactMatch hgnc.symbol:MIR328 semapv:UnspecifiedMatching OMIM:613701 MIR328 skos:exactMatch ncbigene:442901 semapv:UnspecifiedMatching -OMIM:613709 EIF2D skos:exactMatch hgnc:EIF2D semapv:UnspecifiedMatching +OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:6583 semapv:UnspecifiedMatching +OMIM:613709 EIF2D skos:exactMatch hgnc.symbol:EIF2D semapv:UnspecifiedMatching OMIM:613709 EIF2D skos:exactMatch ncbigene:1939 semapv:UnspecifiedMatching -OMIM:613713 PCID2 skos:exactMatch hgnc:PCID2 semapv:UnspecifiedMatching +OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:25653 semapv:UnspecifiedMatching +OMIM:613713 PCID2 skos:exactMatch hgnc.symbol:PCID2 semapv:UnspecifiedMatching OMIM:613713 PCID2 skos:exactMatch ncbigene:55795 semapv:UnspecifiedMatching -OMIM:613714 NCR3LG1 skos:exactMatch hgnc:NCR3LG1 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:42400 semapv:UnspecifiedMatching +OMIM:613714 NCR3LG1 skos:exactMatch hgnc.symbol:NCR3LG1 semapv:UnspecifiedMatching OMIM:613714 NCR3LG1 skos:exactMatch ncbigene:374383 semapv:UnspecifiedMatching -OMIM:613715 POLR1D skos:exactMatch hgnc:POLR1D semapv:UnspecifiedMatching +OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:20422 semapv:UnspecifiedMatching +OMIM:613715 POLR1D skos:exactMatch hgnc.symbol:POLR1D semapv:UnspecifiedMatching OMIM:613715 POLR1D skos:exactMatch ncbigene:51082 semapv:UnspecifiedMatching -OMIM:613716 MIR661 skos:exactMatch hgnc:MIR661 semapv:UnspecifiedMatching +OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:32917 semapv:UnspecifiedMatching +OMIM:613716 MIR661 skos:exactMatch hgnc.symbol:MIR661 semapv:UnspecifiedMatching OMIM:613716 MIR661 skos:exactMatch ncbigene:724031 semapv:UnspecifiedMatching OMIM:613719 MSRB3 skos:exactMatch UMLS:C1537982 semapv:UnspecifiedMatching OMIM:613719 MSRB3 skos:exactMatch UMLS:C2239351 semapv:UnspecifiedMatching -OMIM:613719 MSRB3 skos:exactMatch hgnc:MSRB3 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:27375 semapv:UnspecifiedMatching +OMIM:613719 MSRB3 skos:exactMatch hgnc.symbol:MSRB3 semapv:UnspecifiedMatching OMIM:613719 MSRB3 skos:exactMatch ncbigene:253827 semapv:UnspecifiedMatching +OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch Orphanet:439218 semapv:UnspecifiedMatching OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch UMLS:C3150986 semapv:UnspecifiedMatching -OMIM:613720 developmental and epileptic encephalopathy 7 skos:exactMatch orphanet.ordo:439218 semapv:UnspecifiedMatching +OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch UMLS:C3150987 semapv:UnspecifiedMatching -OMIM:613721 developmental and epileptic encephalopathy 11 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching +OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch UMLS:C3150988 semapv:UnspecifiedMatching -OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch orphanet.ordo:293181 semapv:UnspecifiedMatching -OMIM:613722 developmental and epileptic encephalopathy 12 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:613725 SLC25A27 skos:exactMatch hgnc:SLC25A27 semapv:UnspecifiedMatching +OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:21065 semapv:UnspecifiedMatching +OMIM:613725 SLC25A27 skos:exactMatch hgnc.symbol:SLC25A27 semapv:UnspecifiedMatching OMIM:613725 SLC25A27 skos:exactMatch ncbigene:9481 semapv:UnspecifiedMatching -OMIM:613726 ANO10 skos:exactMatch hgnc:ANO10 semapv:UnspecifiedMatching +OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:25519 semapv:UnspecifiedMatching +OMIM:613726 ANO10 skos:exactMatch hgnc.symbol:ANO10 semapv:UnspecifiedMatching OMIM:613726 ANO10 skos:exactMatch ncbigene:55129 semapv:UnspecifiedMatching -OMIM:613727 KBTBD13 skos:exactMatch hgnc:KBTBD13 semapv:UnspecifiedMatching +OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:37227 semapv:UnspecifiedMatching +OMIM:613727 KBTBD13 skos:exactMatch hgnc.symbol:KBTBD13 semapv:UnspecifiedMatching OMIM:613727 KBTBD13 skos:exactMatch ncbigene:390594 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C0025267 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C0280089 semapv:UnspecifiedMatching @@ -34073,361 +47605,515 @@ OMIM:613733 MEN1 skos:exactMatch UMLS:C4017331 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C4017332 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C4479701 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch UMLS:C4551961 semapv:UnspecifiedMatching -OMIM:613733 MEN1 skos:exactMatch hgnc:MEN1 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:7010 semapv:UnspecifiedMatching +OMIM:613733 MEN1 skos:exactMatch hgnc.symbol:MEN1 semapv:UnspecifiedMatching OMIM:613733 MEN1 skos:exactMatch ncbigene:4221 semapv:UnspecifiedMatching -OMIM:613734 CCDC115 skos:exactMatch hgnc:CCDC115 semapv:UnspecifiedMatching +OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:28178 semapv:UnspecifiedMatching +OMIM:613734 CCDC115 skos:exactMatch hgnc.symbol:CCDC115 semapv:UnspecifiedMatching OMIM:613734 CCDC115 skos:exactMatch ncbigene:84317 semapv:UnspecifiedMatching -OMIM:613738 AGMO skos:exactMatch hgnc:AGMO semapv:UnspecifiedMatching +OMIM:613738 AGMO skos:exactMatch hgnc.symbol:33784 semapv:UnspecifiedMatching +OMIM:613738 AGMO skos:exactMatch hgnc.symbol:AGMO semapv:UnspecifiedMatching OMIM:613738 AGMO skos:exactMatch ncbigene:392636 semapv:UnspecifiedMatching -OMIM:613739 THYN1 skos:exactMatch hgnc:THYN1 semapv:UnspecifiedMatching +OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:29560 semapv:UnspecifiedMatching +OMIM:613739 THYN1 skos:exactMatch hgnc.symbol:THYN1 semapv:UnspecifiedMatching OMIM:613739 THYN1 skos:exactMatch ncbigene:29087 semapv:UnspecifiedMatching -OMIM:613741 PYGL skos:exactMatch hgnc:PYGL semapv:UnspecifiedMatching +OMIM:613741 PYGL skos:exactMatch hgnc.symbol:9725 semapv:UnspecifiedMatching +OMIM:613741 PYGL skos:exactMatch hgnc.symbol:PYGL semapv:UnspecifiedMatching OMIM:613741 PYGL skos:exactMatch ncbigene:5836 semapv:UnspecifiedMatching -OMIM:613742 G6PC skos:exactMatch hgnc:G6PC1 semapv:UnspecifiedMatching +OMIM:613742 G6PC skos:exactMatch hgnc.symbol:4056 semapv:UnspecifiedMatching +OMIM:613742 G6PC skos:exactMatch hgnc.symbol:G6PC1 semapv:UnspecifiedMatching OMIM:613742 G6PC skos:exactMatch ncbigene:2538 semapv:UnspecifiedMatching -OMIM:613745 ANAPC10 skos:exactMatch hgnc:ANAPC10 semapv:UnspecifiedMatching +OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:24077 semapv:UnspecifiedMatching +OMIM:613745 ANAPC10 skos:exactMatch hgnc.symbol:ANAPC10 semapv:UnspecifiedMatching OMIM:613745 ANAPC10 skos:exactMatch ncbigene:10393 semapv:UnspecifiedMatching -OMIM:613746 BCAR4 skos:exactMatch hgnc:BCAR4 semapv:UnspecifiedMatching +OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:22170 semapv:UnspecifiedMatching +OMIM:613746 BCAR4 skos:exactMatch hgnc.symbol:BCAR4 semapv:UnspecifiedMatching OMIM:613746 BCAR4 skos:exactMatch ncbigene:400500 semapv:UnspecifiedMatching -OMIM:613747 KIF24 skos:exactMatch hgnc:KIF24 semapv:UnspecifiedMatching +OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:19916 semapv:UnspecifiedMatching +OMIM:613747 KIF24 skos:exactMatch hgnc.symbol:KIF24 semapv:UnspecifiedMatching OMIM:613747 KIF24 skos:exactMatch ncbigene:347240 semapv:UnspecifiedMatching -OMIM:613748 CHCHD3 skos:exactMatch hgnc:CHCHD3 semapv:UnspecifiedMatching +OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:21906 semapv:UnspecifiedMatching +OMIM:613748 CHCHD3 skos:exactMatch hgnc.symbol:CHCHD3 semapv:UnspecifiedMatching OMIM:613748 CHCHD3 skos:exactMatch ncbigene:54927 semapv:UnspecifiedMatching -OMIM:613749 ZNF260 skos:exactMatch hgnc:ZNF260 semapv:UnspecifiedMatching +OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:13499 semapv:UnspecifiedMatching +OMIM:613749 ZNF260 skos:exactMatch hgnc.symbol:ZNF260 semapv:UnspecifiedMatching OMIM:613749 ZNF260 skos:exactMatch ncbigene:339324 semapv:UnspecifiedMatching +OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch Orphanet:450 semapv:UnspecifiedMatching OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch UMLS:C3151057 semapv:UnspecifiedMatching -OMIM:613751 heterotaxy, visceral, 4, autosomal skos:exactMatch orphanet.ordo:450 semapv:UnspecifiedMatching -OMIM:613753 MIR211 skos:exactMatch hgnc:MIR211 semapv:UnspecifiedMatching +OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:31588 semapv:UnspecifiedMatching +OMIM:613753 MIR211 skos:exactMatch hgnc.symbol:MIR211 semapv:UnspecifiedMatching OMIM:613753 MIR211 skos:exactMatch ncbigene:406993 semapv:UnspecifiedMatching -OMIM:613754 RNF187 skos:exactMatch hgnc:RNF187 semapv:UnspecifiedMatching +OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:27146 semapv:UnspecifiedMatching +OMIM:613754 RNF187 skos:exactMatch hgnc.symbol:RNF187 semapv:UnspecifiedMatching OMIM:613754 RNF187 skos:exactMatch ncbigene:149603 semapv:UnspecifiedMatching -OMIM:613755 MIR326 skos:exactMatch hgnc:MIR326 semapv:UnspecifiedMatching +OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:31769 semapv:UnspecifiedMatching +OMIM:613755 MIR326 skos:exactMatch hgnc.symbol:MIR326 semapv:UnspecifiedMatching OMIM:613755 MIR326 skos:exactMatch ncbigene:442900 semapv:UnspecifiedMatching -OMIM:613760 SLC36A4 skos:exactMatch hgnc:SLC36A4 semapv:UnspecifiedMatching +OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:19660 semapv:UnspecifiedMatching +OMIM:613760 SLC36A4 skos:exactMatch hgnc.symbol:SLC36A4 semapv:UnspecifiedMatching OMIM:613760 SLC36A4 skos:exactMatch ncbigene:120103 semapv:UnspecifiedMatching -OMIM:613764 SCAMP4 skos:exactMatch hgnc:SCAMP4 semapv:UnspecifiedMatching +OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:30385 semapv:UnspecifiedMatching +OMIM:613764 SCAMP4 skos:exactMatch hgnc.symbol:SCAMP4 semapv:UnspecifiedMatching OMIM:613764 SCAMP4 skos:exactMatch ncbigene:113178 semapv:UnspecifiedMatching OMIM:613766 SCAMP5 skos:exactMatch UMLS:C1428974 semapv:UnspecifiedMatching OMIM:613766 SCAMP5 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:613766 SCAMP5 skos:exactMatch hgnc:SCAMP5 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:30386 semapv:UnspecifiedMatching +OMIM:613766 SCAMP5 skos:exactMatch hgnc.symbol:SCAMP5 semapv:UnspecifiedMatching OMIM:613766 SCAMP5 skos:exactMatch ncbigene:192683 semapv:UnspecifiedMatching -OMIM:613768 RNF213 skos:exactMatch hgnc:RNF213 semapv:UnspecifiedMatching +OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:14539 semapv:UnspecifiedMatching +OMIM:613768 RNF213 skos:exactMatch hgnc.symbol:RNF213 semapv:UnspecifiedMatching OMIM:613768 RNF213 skos:exactMatch ncbigene:57674 semapv:UnspecifiedMatching -OMIM:613770 PLAC4 skos:exactMatch hgnc:PLAC4 semapv:UnspecifiedMatching +OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:14616 semapv:UnspecifiedMatching +OMIM:613770 PLAC4 skos:exactMatch hgnc.symbol:PLAC4 semapv:UnspecifiedMatching OMIM:613770 PLAC4 skos:exactMatch ncbigene:191585 semapv:UnspecifiedMatching -OMIM:613771 TMEM205 skos:exactMatch hgnc:TMEM205 semapv:UnspecifiedMatching +OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:29631 semapv:UnspecifiedMatching +OMIM:613771 TMEM205 skos:exactMatch hgnc.symbol:TMEM205 semapv:UnspecifiedMatching OMIM:613771 TMEM205 skos:exactMatch ncbigene:374882 semapv:UnspecifiedMatching -OMIM:613772 KLHL14 skos:exactMatch hgnc:KLHL14 semapv:UnspecifiedMatching +OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:29266 semapv:UnspecifiedMatching +OMIM:613772 KLHL14 skos:exactMatch hgnc.symbol:KLHL14 semapv:UnspecifiedMatching OMIM:613772 KLHL14 skos:exactMatch ncbigene:57565 semapv:UnspecifiedMatching -OMIM:613773 IGSF9B skos:exactMatch hgnc:IGSF9B semapv:UnspecifiedMatching +OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:32326 semapv:UnspecifiedMatching +OMIM:613773 IGSF9B skos:exactMatch hgnc.symbol:IGSF9B semapv:UnspecifiedMatching OMIM:613773 IGSF9B skos:exactMatch ncbigene:22997 semapv:UnspecifiedMatching -OMIM:613774 CAMSAP1 skos:exactMatch hgnc:CAMSAP1 semapv:UnspecifiedMatching +OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:19946 semapv:UnspecifiedMatching +OMIM:613774 CAMSAP1 skos:exactMatch hgnc.symbol:CAMSAP1 semapv:UnspecifiedMatching OMIM:613774 CAMSAP1 skos:exactMatch ncbigene:157922 semapv:UnspecifiedMatching -OMIM:613775 CAMSAP2 skos:exactMatch hgnc:CAMSAP2 semapv:UnspecifiedMatching +OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:29188 semapv:UnspecifiedMatching +OMIM:613775 CAMSAP2 skos:exactMatch hgnc.symbol:CAMSAP2 semapv:UnspecifiedMatching OMIM:613775 CAMSAP2 skos:exactMatch ncbigene:23271 semapv:UnspecifiedMatching -OMIM:613777 FOXRED2 skos:exactMatch hgnc:FOXRED2 semapv:UnspecifiedMatching +OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:26264 semapv:UnspecifiedMatching +OMIM:613777 FOXRED2 skos:exactMatch hgnc.symbol:FOXRED2 semapv:UnspecifiedMatching OMIM:613777 FOXRED2 skos:exactMatch ncbigene:80020 semapv:UnspecifiedMatching +OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch Orphanet:91387 semapv:UnspecifiedMatching OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch UMLS:C3151077 semapv:UnspecifiedMatching -OMIM:613780 aortic aneurysm, familial thoracic 7 skos:exactMatch orphanet.ordo:91387 semapv:UnspecifiedMatching -OMIM:613781 CCDC125 skos:exactMatch hgnc:CCDC125 semapv:UnspecifiedMatching +OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:28924 semapv:UnspecifiedMatching +OMIM:613781 CCDC125 skos:exactMatch hgnc.symbol:CCDC125 semapv:UnspecifiedMatching OMIM:613781 CCDC125 skos:exactMatch ncbigene:202243 semapv:UnspecifiedMatching -OMIM:613782 MSRB2 skos:exactMatch hgnc:MSRB2 semapv:UnspecifiedMatching +OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:17061 semapv:UnspecifiedMatching +OMIM:613782 MSRB2 skos:exactMatch hgnc.symbol:MSRB2 semapv:UnspecifiedMatching OMIM:613782 MSRB2 skos:exactMatch ncbigene:22921 semapv:UnspecifiedMatching -OMIM:613785 C1R skos:exactMatch hgnc:C1R semapv:UnspecifiedMatching +OMIM:613785 C1R skos:exactMatch hgnc.symbol:1246 semapv:UnspecifiedMatching +OMIM:613785 C1R skos:exactMatch hgnc.symbol:C1R semapv:UnspecifiedMatching OMIM:613785 C1R skos:exactMatch ncbigene:715 semapv:UnspecifiedMatching -OMIM:613786 MIR148A skos:exactMatch hgnc:MIR148A semapv:UnspecifiedMatching +OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:31535 semapv:UnspecifiedMatching +OMIM:613786 MIR148A skos:exactMatch hgnc.symbol:MIR148A semapv:UnspecifiedMatching OMIM:613786 MIR148A skos:exactMatch ncbigene:406940 semapv:UnspecifiedMatching -OMIM:613787 MIR148B skos:exactMatch hgnc:MIR148B semapv:UnspecifiedMatching +OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:31761 semapv:UnspecifiedMatching +OMIM:613787 MIR148B skos:exactMatch hgnc.symbol:MIR148B semapv:UnspecifiedMatching OMIM:613787 MIR148B skos:exactMatch ncbigene:442892 semapv:UnspecifiedMatching -OMIM:613788 MIR152 skos:exactMatch hgnc:MIR152 semapv:UnspecifiedMatching +OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:31538 semapv:UnspecifiedMatching +OMIM:613788 MIR152 skos:exactMatch hgnc.symbol:MIR152 semapv:UnspecifiedMatching OMIM:613788 MIR152 skos:exactMatch ncbigene:406943 semapv:UnspecifiedMatching -OMIM:613797 PRSS33 skos:exactMatch hgnc:PRSS33 semapv:UnspecifiedMatching +OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:30405 semapv:UnspecifiedMatching +OMIM:613797 PRSS33 skos:exactMatch hgnc.symbol:PRSS33 semapv:UnspecifiedMatching OMIM:613797 PRSS33 skos:exactMatch ncbigene:260429 semapv:UnspecifiedMatching -OMIM:613798 CCDC39 skos:exactMatch hgnc:CCDC39 semapv:UnspecifiedMatching +OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:25244 semapv:UnspecifiedMatching +OMIM:613798 CCDC39 skos:exactMatch hgnc.symbol:CCDC39 semapv:UnspecifiedMatching OMIM:613798 CCDC39 skos:exactMatch ncbigene:339829 semapv:UnspecifiedMatching -OMIM:613799 CCDC40 skos:exactMatch hgnc:CCDC40 semapv:UnspecifiedMatching +OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:26090 semapv:UnspecifiedMatching +OMIM:613799 CCDC40 skos:exactMatch hgnc.symbol:CCDC40 semapv:UnspecifiedMatching OMIM:613799 CCDC40 skos:exactMatch ncbigene:55036 semapv:UnspecifiedMatching -OMIM:613802 MLEC skos:exactMatch hgnc:MLEC semapv:UnspecifiedMatching +OMIM:613802 MLEC skos:exactMatch hgnc.symbol:28973 semapv:UnspecifiedMatching +OMIM:613802 MLEC skos:exactMatch hgnc.symbol:MLEC semapv:UnspecifiedMatching OMIM:613802 MLEC skos:exactMatch ncbigene:9761 semapv:UnspecifiedMatching -OMIM:613813 MDM1 skos:exactMatch hgnc:MDM1 semapv:UnspecifiedMatching +OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:29917 semapv:UnspecifiedMatching +OMIM:613813 MDM1 skos:exactMatch hgnc.symbol:MDM1 semapv:UnspecifiedMatching OMIM:613813 MDM1 skos:exactMatch ncbigene:56890 semapv:UnspecifiedMatching -OMIM:613814 TTC19 skos:exactMatch hgnc:TTC19 semapv:UnspecifiedMatching +OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:26006 semapv:UnspecifiedMatching +OMIM:613814 TTC19 skos:exactMatch hgnc.symbol:TTC19 semapv:UnspecifiedMatching OMIM:613814 TTC19 skos:exactMatch ncbigene:54902 semapv:UnspecifiedMatching -OMIM:613815 CYP21A2 skos:exactMatch hgnc:CYP21A2 semapv:UnspecifiedMatching +OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:2600 semapv:UnspecifiedMatching +OMIM:613815 CYP21A2 skos:exactMatch hgnc.symbol:CYP21A2 semapv:UnspecifiedMatching OMIM:613815 CYP21A2 skos:exactMatch ncbigene:1589 semapv:UnspecifiedMatching -OMIM:613816 UBR7 skos:exactMatch hgnc:UBR7 semapv:UnspecifiedMatching +OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:20344 semapv:UnspecifiedMatching +OMIM:613816 UBR7 skos:exactMatch hgnc.symbol:UBR7 semapv:UnspecifiedMatching OMIM:613816 UBR7 skos:exactMatch ncbigene:55148 semapv:UnspecifiedMatching -OMIM:613817 SPATS2L skos:exactMatch hgnc:SPATS2L semapv:UnspecifiedMatching +OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:24574 semapv:UnspecifiedMatching +OMIM:613817 SPATS2L skos:exactMatch hgnc.symbol:SPATS2L semapv:UnspecifiedMatching OMIM:613817 SPATS2L skos:exactMatch ncbigene:26010 semapv:UnspecifiedMatching -OMIM:613821 PPP3R2 skos:exactMatch hgnc:PPP3R2 semapv:UnspecifiedMatching +OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:9318 semapv:UnspecifiedMatching +OMIM:613821 PPP3R2 skos:exactMatch hgnc.symbol:PPP3R2 semapv:UnspecifiedMatching OMIM:613821 PPP3R2 skos:exactMatch ncbigene:5535 semapv:UnspecifiedMatching OMIM:613822 PPP4R2 skos:exactMatch UMLS:C1425429 semapv:UnspecifiedMatching -OMIM:613822 PPP4R2 skos:exactMatch hgnc:PPP4R2 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:18296 semapv:UnspecifiedMatching +OMIM:613822 PPP4R2 skos:exactMatch hgnc.symbol:PPP4R2 semapv:UnspecifiedMatching OMIM:613822 PPP4R2 skos:exactMatch ncbigene:151987 semapv:UnspecifiedMatching +OMIM:613823 seckel syndrome 5 skos:exactMatch Orphanet:808 semapv:UnspecifiedMatching OMIM:613823 seckel syndrome 5 skos:exactMatch UMLS:C3151187 semapv:UnspecifiedMatching -OMIM:613823 seckel syndrome 5 skos:exactMatch orphanet.ordo:808 semapv:UnspecifiedMatching -OMIM:613831 UBR3 skos:exactMatch hgnc:UBR3 semapv:UnspecifiedMatching +OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:30467 semapv:UnspecifiedMatching +OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:UBR3 semapv:UnspecifiedMatching OMIM:613831 UBR3 skos:exactMatch ncbigene:130507 semapv:UnspecifiedMatching -OMIM:613833 KANSL1L skos:exactMatch hgnc:KANSL1L semapv:UnspecifiedMatching +OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:26310 semapv:UnspecifiedMatching +OMIM:613833 KANSL1L skos:exactMatch hgnc.symbol:KANSL1L semapv:UnspecifiedMatching OMIM:613833 KANSL1L skos:exactMatch ncbigene:151050 semapv:UnspecifiedMatching -OMIM:613834 multisystemic smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching -OMIM:613834 multisystemic smooth muscle dysfunction syndrome skos:exactMatch orphanet.ordo:404463 semapv:UnspecifiedMatching -OMIM:613840 ZNF304 skos:exactMatch hgnc:ZNF304 semapv:UnspecifiedMatching +OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching +OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching +OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:13505 semapv:UnspecifiedMatching +OMIM:613840 ZNF304 skos:exactMatch hgnc.symbol:ZNF304 semapv:UnspecifiedMatching OMIM:613840 ZNF304 skos:exactMatch ncbigene:57343 semapv:UnspecifiedMatching -OMIM:613841 UBN2 skos:exactMatch hgnc:UBN2 semapv:UnspecifiedMatching +OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:21931 semapv:UnspecifiedMatching +OMIM:613841 UBN2 skos:exactMatch hgnc.symbol:UBN2 semapv:UnspecifiedMatching OMIM:613841 UBN2 skos:exactMatch ncbigene:254048 semapv:UnspecifiedMatching -OMIM:613842 GZF1 skos:exactMatch hgnc:GZF1 semapv:UnspecifiedMatching +OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:15808 semapv:UnspecifiedMatching +OMIM:613842 GZF1 skos:exactMatch hgnc.symbol:GZF1 semapv:UnspecifiedMatching OMIM:613842 GZF1 skos:exactMatch ncbigene:64412 semapv:UnspecifiedMatching -OMIM:613844 UQCRH skos:exactMatch hgnc:UQCRH semapv:UnspecifiedMatching +OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:12590 semapv:UnspecifiedMatching +OMIM:613844 UQCRH skos:exactMatch hgnc.symbol:UQCRH semapv:UnspecifiedMatching OMIM:613844 UQCRH skos:exactMatch ncbigene:7388 semapv:UnspecifiedMatching +OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch Orphanet:363694 semapv:UnspecifiedMatching OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch UMLS:C3151209 semapv:UnspecifiedMatching -OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome skos:exactMatch orphanet.ordo:363694 semapv:UnspecifiedMatching -OMIM:613846 TCTN2 skos:exactMatch hgnc:TCTN2 semapv:UnspecifiedMatching +OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:25774 semapv:UnspecifiedMatching +OMIM:613846 TCTN2 skos:exactMatch hgnc.symbol:TCTN2 semapv:UnspecifiedMatching OMIM:613846 TCTN2 skos:exactMatch ncbigene:79867 semapv:UnspecifiedMatching -OMIM:613847 TCTN3 skos:exactMatch hgnc:TCTN3 semapv:UnspecifiedMatching +OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:24519 semapv:UnspecifiedMatching +OMIM:613847 TCTN3 skos:exactMatch hgnc.symbol:TCTN3 semapv:UnspecifiedMatching OMIM:613847 TCTN3 skos:exactMatch ncbigene:26123 semapv:UnspecifiedMatching -OMIM:613851 PRIMA1 skos:exactMatch hgnc:PRIMA1 semapv:UnspecifiedMatching +OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:18319 semapv:UnspecifiedMatching +OMIM:613851 PRIMA1 skos:exactMatch hgnc.symbol:PRIMA1 semapv:UnspecifiedMatching OMIM:613851 PRIMA1 skos:exactMatch ncbigene:145270 semapv:UnspecifiedMatching +OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch Orphanet:860 semapv:UnspecifiedMatching OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch UMLS:C3151221 semapv:UnspecifiedMatching -OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch orphanet.ordo:860 semapv:UnspecifiedMatching -OMIM:613858 PRSS56 skos:exactMatch hgnc:PRSS56 semapv:UnspecifiedMatching +OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:39433 semapv:UnspecifiedMatching +OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:PRSS56 semapv:UnspecifiedMatching OMIM:613858 PRSS56 skos:exactMatch ncbigene:646960 semapv:UnspecifiedMatching -OMIM:613859 UMODL1 skos:exactMatch hgnc:UMODL1 semapv:UnspecifiedMatching +OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:12560 semapv:UnspecifiedMatching +OMIM:613859 UMODL1 skos:exactMatch hgnc.symbol:UMODL1 semapv:UnspecifiedMatching OMIM:613859 UMODL1 skos:exactMatch ncbigene:89766 semapv:UnspecifiedMatching -OMIM:613864 ZNF317 skos:exactMatch hgnc:ZNF317 semapv:UnspecifiedMatching +OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:13507 semapv:UnspecifiedMatching +OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:ZNF317 semapv:UnspecifiedMatching OMIM:613864 ZNF317 skos:exactMatch ncbigene:57693 semapv:UnspecifiedMatching -OMIM:613866 PLAAT2 skos:exactMatch hgnc:PLAAT2 semapv:UnspecifiedMatching +OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:17824 semapv:UnspecifiedMatching +OMIM:613866 PLAAT2 skos:exactMatch hgnc.symbol:PLAAT2 semapv:UnspecifiedMatching OMIM:613866 PLAAT2 skos:exactMatch ncbigene:54979 semapv:UnspecifiedMatching -OMIM:613867 PLAAT3 skos:exactMatch hgnc:PLAAT3 semapv:UnspecifiedMatching +OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:17825 semapv:UnspecifiedMatching +OMIM:613867 PLAAT3 skos:exactMatch hgnc.symbol:PLAAT3 semapv:UnspecifiedMatching OMIM:613867 PLAAT3 skos:exactMatch ncbigene:11145 semapv:UnspecifiedMatching -OMIM:613868 SLC14A1 skos:exactMatch hgnc:SLC14A1 semapv:UnspecifiedMatching +OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:10918 semapv:UnspecifiedMatching +OMIM:613868 SLC14A1 skos:exactMatch hgnc.symbol:SLC14A1 semapv:UnspecifiedMatching OMIM:613868 SLC14A1 skos:exactMatch ncbigene:6563 semapv:UnspecifiedMatching -OMIM:613871 FAH skos:exactMatch hgnc:FAH semapv:UnspecifiedMatching +OMIM:613871 FAH skos:exactMatch hgnc.symbol:3579 semapv:UnspecifiedMatching +OMIM:613871 FAH skos:exactMatch hgnc.symbol:FAH semapv:UnspecifiedMatching OMIM:613871 FAH skos:exactMatch ncbigene:2184 semapv:UnspecifiedMatching -OMIM:613872 F10 skos:exactMatch hgnc:F10 semapv:UnspecifiedMatching +OMIM:613872 F10 skos:exactMatch hgnc.symbol:3528 semapv:UnspecifiedMatching +OMIM:613872 F10 skos:exactMatch hgnc.symbol:F10 semapv:UnspecifiedMatching OMIM:613872 F10 skos:exactMatch ncbigene:2159 semapv:UnspecifiedMatching -OMIM:613878 F7 skos:exactMatch hgnc:F7 semapv:UnspecifiedMatching +OMIM:613878 F7 skos:exactMatch hgnc.symbol:3544 semapv:UnspecifiedMatching +OMIM:613878 F7 skos:exactMatch hgnc.symbol:F7 semapv:UnspecifiedMatching OMIM:613878 F7 skos:exactMatch ncbigene:2155 semapv:UnspecifiedMatching -OMIM:613879 TRH skos:exactMatch hgnc:TRH semapv:UnspecifiedMatching +OMIM:613879 TRH skos:exactMatch hgnc.symbol:12298 semapv:UnspecifiedMatching +OMIM:613879 TRH skos:exactMatch hgnc.symbol:TRH semapv:UnspecifiedMatching OMIM:613879 TRH skos:exactMatch ncbigene:7200 semapv:UnspecifiedMatching -OMIM:613880 BAHD1 skos:exactMatch hgnc:BAHD1 semapv:UnspecifiedMatching +OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:29153 semapv:UnspecifiedMatching +OMIM:613880 BAHD1 skos:exactMatch hgnc.symbol:BAHD1 semapv:UnspecifiedMatching OMIM:613880 BAHD1 skos:exactMatch ncbigene:22893 semapv:UnspecifiedMatching -OMIM:613883 KEL skos:exactMatch hgnc:KEL semapv:UnspecifiedMatching +OMIM:613883 KEL skos:exactMatch hgnc.symbol:6308 semapv:UnspecifiedMatching +OMIM:613883 KEL skos:exactMatch hgnc.symbol:KEL semapv:UnspecifiedMatching OMIM:613883 KEL skos:exactMatch ncbigene:3792 semapv:UnspecifiedMatching -OMIM:613888 RHOT1 skos:exactMatch hgnc:RHOT1 semapv:UnspecifiedMatching +OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:21168 semapv:UnspecifiedMatching +OMIM:613888 RHOT1 skos:exactMatch hgnc.symbol:RHOT1 semapv:UnspecifiedMatching OMIM:613888 RHOT1 skos:exactMatch ncbigene:55288 semapv:UnspecifiedMatching -OMIM:613889 RHOT2 skos:exactMatch hgnc:RHOT2 semapv:UnspecifiedMatching +OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:21169 semapv:UnspecifiedMatching +OMIM:613889 RHOT2 skos:exactMatch hgnc.symbol:RHOT2 semapv:UnspecifiedMatching OMIM:613889 RHOT2 skos:exactMatch ncbigene:89941 semapv:UnspecifiedMatching -OMIM:613890 HSD3B2 skos:exactMatch hgnc:HSD3B2 semapv:UnspecifiedMatching +OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:5218 semapv:UnspecifiedMatching +OMIM:613890 HSD3B2 skos:exactMatch hgnc.symbol:HSD3B2 semapv:UnspecifiedMatching OMIM:613890 HSD3B2 skos:exactMatch ncbigene:3284 semapv:UnspecifiedMatching -OMIM:613891 UMPS skos:exactMatch hgnc:UMPS semapv:UnspecifiedMatching +OMIM:613891 UMPS skos:exactMatch hgnc.symbol:12563 semapv:UnspecifiedMatching +OMIM:613891 UMPS skos:exactMatch hgnc.symbol:UMPS semapv:UnspecifiedMatching OMIM:613891 UMPS skos:exactMatch ncbigene:7372 semapv:UnspecifiedMatching -OMIM:613892 DPY19L1 skos:exactMatch hgnc:DPY19L1 semapv:UnspecifiedMatching +OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:22205 semapv:UnspecifiedMatching +OMIM:613892 DPY19L1 skos:exactMatch hgnc.symbol:DPY19L1 semapv:UnspecifiedMatching OMIM:613892 DPY19L1 skos:exactMatch ncbigene:23333 semapv:UnspecifiedMatching -OMIM:613893 DPY19L2 skos:exactMatch hgnc:DPY19L2 semapv:UnspecifiedMatching +OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:19414 semapv:UnspecifiedMatching +OMIM:613893 DPY19L2 skos:exactMatch hgnc.symbol:DPY19L2 semapv:UnspecifiedMatching OMIM:613893 DPY19L2 skos:exactMatch ncbigene:283417 semapv:UnspecifiedMatching -OMIM:613894 DPY19L3 skos:exactMatch hgnc:DPY19L3 semapv:UnspecifiedMatching +OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:27120 semapv:UnspecifiedMatching +OMIM:613894 DPY19L3 skos:exactMatch hgnc.symbol:DPY19L3 semapv:UnspecifiedMatching OMIM:613894 DPY19L3 skos:exactMatch ncbigene:147991 semapv:UnspecifiedMatching -OMIM:613895 DPY19L4 skos:exactMatch hgnc:DPY19L4 semapv:UnspecifiedMatching +OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:27829 semapv:UnspecifiedMatching +OMIM:613895 DPY19L4 skos:exactMatch hgnc.symbol:DPY19L4 semapv:UnspecifiedMatching OMIM:613895 DPY19L4 skos:exactMatch ncbigene:286148 semapv:UnspecifiedMatching OMIM:613896 BPGM skos:exactMatch UMLS:C1291620 semapv:UnspecifiedMatching OMIM:613896 BPGM skos:exactMatch UMLS:C1412816 semapv:UnspecifiedMatching -OMIM:613896 BPGM skos:exactMatch hgnc:BPGM semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch hgnc.symbol:1093 semapv:UnspecifiedMatching +OMIM:613896 BPGM skos:exactMatch hgnc.symbol:BPGM semapv:UnspecifiedMatching OMIM:613896 BPGM skos:exactMatch ncbigene:669 semapv:UnspecifiedMatching -OMIM:613897 FANCF skos:exactMatch hgnc:FANCF semapv:UnspecifiedMatching +OMIM:613897 FANCF skos:exactMatch hgnc.symbol:3587 semapv:UnspecifiedMatching +OMIM:613897 FANCF skos:exactMatch hgnc.symbol:FANCF semapv:UnspecifiedMatching OMIM:613897 FANCF skos:exactMatch ncbigene:2188 semapv:UnspecifiedMatching -OMIM:613898 HMGCL skos:exactMatch hgnc:HMGCL semapv:UnspecifiedMatching +OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:5005 semapv:UnspecifiedMatching +OMIM:613898 HMGCL skos:exactMatch hgnc.symbol:HMGCL semapv:UnspecifiedMatching OMIM:613898 HMGCL skos:exactMatch ncbigene:3155 semapv:UnspecifiedMatching -OMIM:613899 FANCC skos:exactMatch hgnc:FANCC semapv:UnspecifiedMatching +OMIM:613899 FANCC skos:exactMatch hgnc.symbol:3584 semapv:UnspecifiedMatching +OMIM:613899 FANCC skos:exactMatch hgnc.symbol:FANCC semapv:UnspecifiedMatching OMIM:613899 FANCC skos:exactMatch ncbigene:2176 semapv:UnspecifiedMatching -OMIM:613900 TGM6 skos:exactMatch hgnc:TGM6 semapv:UnspecifiedMatching +OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:16255 semapv:UnspecifiedMatching +OMIM:613900 TGM6 skos:exactMatch hgnc.symbol:TGM6 semapv:UnspecifiedMatching OMIM:613900 TGM6 skos:exactMatch ncbigene:343641 semapv:UnspecifiedMatching -OMIM:613901 RTCB skos:exactMatch hgnc:RTCB semapv:UnspecifiedMatching +OMIM:613901 RTCB skos:exactMatch hgnc.symbol:26935 semapv:UnspecifiedMatching +OMIM:613901 RTCB skos:exactMatch hgnc.symbol:RTCB semapv:UnspecifiedMatching OMIM:613901 RTCB skos:exactMatch ncbigene:51493 semapv:UnspecifiedMatching OMIM:613902 ZNF503 skos:exactMatch UMLS:C1428140 semapv:UnspecifiedMatching -OMIM:613902 ZNF503 skos:exactMatch hgnc:ZNF503 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:23589 semapv:UnspecifiedMatching +OMIM:613902 ZNF503 skos:exactMatch hgnc.symbol:ZNF503 semapv:UnspecifiedMatching OMIM:613902 ZNF503 skos:exactMatch ncbigene:84858 semapv:UnspecifiedMatching -OMIM:613903 ZNF540 skos:exactMatch hgnc:ZNF540 semapv:UnspecifiedMatching +OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:25331 semapv:UnspecifiedMatching +OMIM:613903 ZNF540 skos:exactMatch hgnc.symbol:ZNF540 semapv:UnspecifiedMatching OMIM:613903 ZNF540 skos:exactMatch ncbigene:163255 semapv:UnspecifiedMatching -OMIM:613904 ZNF569 skos:exactMatch hgnc:ZNF569 semapv:UnspecifiedMatching +OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:24737 semapv:UnspecifiedMatching +OMIM:613904 ZNF569 skos:exactMatch hgnc.symbol:ZNF569 semapv:UnspecifiedMatching OMIM:613904 ZNF569 skos:exactMatch ncbigene:148266 semapv:UnspecifiedMatching -OMIM:613905 ZNF606 skos:exactMatch hgnc:ZNF606 semapv:UnspecifiedMatching +OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:25879 semapv:UnspecifiedMatching +OMIM:613905 ZNF606 skos:exactMatch hgnc.symbol:ZNF606 semapv:UnspecifiedMatching OMIM:613905 ZNF606 skos:exactMatch ncbigene:80095 semapv:UnspecifiedMatching -OMIM:613906 ZNF641 skos:exactMatch hgnc:ZNF641 semapv:UnspecifiedMatching +OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:31834 semapv:UnspecifiedMatching +OMIM:613906 ZNF641 skos:exactMatch hgnc.symbol:ZNF641 semapv:UnspecifiedMatching OMIM:613906 ZNF641 skos:exactMatch ncbigene:121274 semapv:UnspecifiedMatching -OMIM:613907 ZNF652 skos:exactMatch hgnc:ZNF652 semapv:UnspecifiedMatching +OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:29147 semapv:UnspecifiedMatching +OMIM:613907 ZNF652 skos:exactMatch hgnc.symbol:ZNF652 semapv:UnspecifiedMatching OMIM:613907 ZNF652 skos:exactMatch ncbigene:22834 semapv:UnspecifiedMatching -OMIM:613910 ZNF480 skos:exactMatch hgnc:ZNF480 semapv:UnspecifiedMatching +OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:23305 semapv:UnspecifiedMatching +OMIM:613910 ZNF480 skos:exactMatch hgnc.symbol:ZNF480 semapv:UnspecifiedMatching OMIM:613910 ZNF480 skos:exactMatch ncbigene:147657 semapv:UnspecifiedMatching -OMIM:613911 ZNF496 skos:exactMatch hgnc:ZNF496 semapv:UnspecifiedMatching +OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:23713 semapv:UnspecifiedMatching +OMIM:613911 ZNF496 skos:exactMatch hgnc.symbol:ZNF496 semapv:UnspecifiedMatching OMIM:613911 ZNF496 skos:exactMatch ncbigene:84838 semapv:UnspecifiedMatching -OMIM:613914 ZNF746 skos:exactMatch hgnc:ZNF746 semapv:UnspecifiedMatching +OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:21948 semapv:UnspecifiedMatching +OMIM:613914 ZNF746 skos:exactMatch hgnc.symbol:ZNF746 semapv:UnspecifiedMatching OMIM:613914 ZNF746 skos:exactMatch ncbigene:155061 semapv:UnspecifiedMatching -OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc:ZBTB42 semapv:UnspecifiedMatching +OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:32550 semapv:UnspecifiedMatching +OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch hgnc.symbol:ZBTB42 semapv:UnspecifiedMatching OMIM:613915 zinc finger- and btb domain-containing protein 42: zbtb42 skos:exactMatch ncbigene:100128927 semapv:UnspecifiedMatching -OMIM:613917 MUC22 skos:exactMatch hgnc:MUC22 semapv:UnspecifiedMatching +OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:39755 semapv:UnspecifiedMatching +OMIM:613917 MUC22 skos:exactMatch hgnc.symbol:MUC22 semapv:UnspecifiedMatching OMIM:613917 MUC22 skos:exactMatch ncbigene:100507679 semapv:UnspecifiedMatching -OMIM:613918 HCG22 skos:exactMatch hgnc:HCG22 semapv:UnspecifiedMatching +OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:27780 semapv:UnspecifiedMatching +OMIM:613918 HCG22 skos:exactMatch hgnc.symbol:HCG22 semapv:UnspecifiedMatching OMIM:613918 HCG22 skos:exactMatch ncbigene:285834 semapv:UnspecifiedMatching -OMIM:613919 KIF6 skos:exactMatch hgnc:KIF6 semapv:UnspecifiedMatching +OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:21202 semapv:UnspecifiedMatching +OMIM:613919 KIF6 skos:exactMatch hgnc.symbol:KIF6 semapv:UnspecifiedMatching OMIM:613919 KIF6 skos:exactMatch ncbigene:221458 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch UMLS:C2240258 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching -OMIM:613920 COA5 skos:exactMatch hgnc:COA5 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch hgnc.symbol:33848 semapv:UnspecifiedMatching +OMIM:613920 COA5 skos:exactMatch hgnc.symbol:COA5 semapv:UnspecifiedMatching OMIM:613920 COA5 skos:exactMatch ncbigene:493753 semapv:UnspecifiedMatching -OMIM:613921 LIPJ skos:exactMatch hgnc:LIPJ semapv:UnspecifiedMatching +OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:21773 semapv:UnspecifiedMatching +OMIM:613921 LIPJ skos:exactMatch hgnc.symbol:LIPJ semapv:UnspecifiedMatching OMIM:613921 LIPJ skos:exactMatch ncbigene:142910 semapv:UnspecifiedMatching -OMIM:613922 LIPK skos:exactMatch hgnc:LIPK semapv:UnspecifiedMatching +OMIM:613922 LIPK skos:exactMatch hgnc.symbol:23444 semapv:UnspecifiedMatching +OMIM:613922 LIPK skos:exactMatch hgnc.symbol:LIPK semapv:UnspecifiedMatching OMIM:613922 LIPK skos:exactMatch ncbigene:643414 semapv:UnspecifiedMatching -OMIM:613923 LIPM skos:exactMatch hgnc:LIPM semapv:UnspecifiedMatching +OMIM:613923 LIPM skos:exactMatch hgnc.symbol:23455 semapv:UnspecifiedMatching +OMIM:613923 LIPM skos:exactMatch hgnc.symbol:LIPM semapv:UnspecifiedMatching OMIM:613923 LIPM skos:exactMatch ncbigene:340654 semapv:UnspecifiedMatching -OMIM:613924 LIPN skos:exactMatch hgnc:LIPN semapv:UnspecifiedMatching +OMIM:613924 LIPN skos:exactMatch hgnc.symbol:23452 semapv:UnspecifiedMatching +OMIM:613924 LIPN skos:exactMatch hgnc.symbol:LIPN semapv:UnspecifiedMatching OMIM:613924 LIPN skos:exactMatch ncbigene:643418 semapv:UnspecifiedMatching -OMIM:613927 C2 skos:exactMatch hgnc:C2 semapv:UnspecifiedMatching +OMIM:613927 C2 skos:exactMatch hgnc.symbol:1248 semapv:UnspecifiedMatching +OMIM:613927 C2 skos:exactMatch hgnc.symbol:C2 semapv:UnspecifiedMatching OMIM:613927 C2 skos:exactMatch ncbigene:717 semapv:UnspecifiedMatching -OMIM:613928 MUCL3 skos:exactMatch hgnc:MUCL3 semapv:UnspecifiedMatching +OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:21666 semapv:UnspecifiedMatching +OMIM:613928 MUCL3 skos:exactMatch hgnc.symbol:MUCL3 semapv:UnspecifiedMatching OMIM:613928 MUCL3 skos:exactMatch ncbigene:135656 semapv:UnspecifiedMatching -OMIM:613929 SPINK4 skos:exactMatch hgnc:SPINK4 semapv:UnspecifiedMatching +OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:16646 semapv:UnspecifiedMatching +OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:SPINK4 semapv:UnspecifiedMatching OMIM:613929 SPINK4 skos:exactMatch ncbigene:27290 semapv:UnspecifiedMatching -OMIM:613931 TOE1 skos:exactMatch hgnc:TOE1 semapv:UnspecifiedMatching +OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:15954 semapv:UnspecifiedMatching +OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:TOE1 semapv:UnspecifiedMatching OMIM:613931 TOE1 skos:exactMatch ncbigene:114034 semapv:UnspecifiedMatching -OMIM:613932 TNNI3K skos:exactMatch hgnc:TNNI3K semapv:UnspecifiedMatching +OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:19661 semapv:UnspecifiedMatching +OMIM:613932 TNNI3K skos:exactMatch hgnc.symbol:TNNI3K semapv:UnspecifiedMatching OMIM:613932 TNNI3K skos:exactMatch ncbigene:51086 semapv:UnspecifiedMatching OMIM:613934 TMEM25 skos:exactMatch UMLS:C1539994 semapv:UnspecifiedMatching -OMIM:613934 TMEM25 skos:exactMatch hgnc:TMEM25 semapv:UnspecifiedMatching +OMIM:613934 TMEM25 skos:exactMatch hgnc.symbol:25890 semapv:UnspecifiedMatching +OMIM:613934 TMEM25 skos:exactMatch hgnc.symbol:TMEM25 semapv:UnspecifiedMatching OMIM:613934 TMEM25 skos:exactMatch ncbigene:84866 semapv:UnspecifiedMatching -OMIM:613935 TMEM74 skos:exactMatch hgnc:TMEM74 semapv:UnspecifiedMatching +OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:26409 semapv:UnspecifiedMatching +OMIM:613935 TMEM74 skos:exactMatch hgnc.symbol:TMEM74 semapv:UnspecifiedMatching OMIM:613935 TMEM74 skos:exactMatch ncbigene:157753 semapv:UnspecifiedMatching -OMIM:613936 TMEM102 skos:exactMatch hgnc:TMEM102 semapv:UnspecifiedMatching +OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:26722 semapv:UnspecifiedMatching +OMIM:613936 TMEM102 skos:exactMatch hgnc.symbol:TMEM102 semapv:UnspecifiedMatching OMIM:613936 TMEM102 skos:exactMatch ncbigene:284114 semapv:UnspecifiedMatching -OMIM:613937 TMEM184C skos:exactMatch hgnc:TMEM184C semapv:UnspecifiedMatching +OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:25587 semapv:UnspecifiedMatching +OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:TMEM184C semapv:UnspecifiedMatching OMIM:613937 TMEM184C skos:exactMatch ncbigene:55751 semapv:UnspecifiedMatching -OMIM:613939 SPATA20 skos:exactMatch hgnc:SPATA20 semapv:UnspecifiedMatching +OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:26125 semapv:UnspecifiedMatching +OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:SPATA20 semapv:UnspecifiedMatching OMIM:613939 SPATA20 skos:exactMatch ncbigene:64847 semapv:UnspecifiedMatching -OMIM:613940 AFG2A skos:exactMatch hgnc:AFG2A semapv:UnspecifiedMatching +OMIM:613940 AFG2A skos:exactMatch hgnc.symbol:AFG2A semapv:UnspecifiedMatching OMIM:613940 AFG2A skos:exactMatch ncbigene:166378 semapv:UnspecifiedMatching -OMIM:613941 SPINT3 skos:exactMatch hgnc:SPINT3 semapv:UnspecifiedMatching +OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:11248 semapv:UnspecifiedMatching +OMIM:613941 SPINT3 skos:exactMatch hgnc.symbol:SPINT3 semapv:UnspecifiedMatching OMIM:613941 SPINT3 skos:exactMatch ncbigene:10816 semapv:UnspecifiedMatching -OMIM:613942 SUN5 skos:exactMatch hgnc:SUN5 semapv:UnspecifiedMatching +OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:16252 semapv:UnspecifiedMatching +OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:SUN5 semapv:UnspecifiedMatching OMIM:613942 SUN5 skos:exactMatch ncbigene:140732 semapv:UnspecifiedMatching -OMIM:613945 DNAJC5B skos:exactMatch hgnc:DNAJC5B semapv:UnspecifiedMatching +OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:24138 semapv:UnspecifiedMatching +OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:DNAJC5B semapv:UnspecifiedMatching OMIM:613945 DNAJC5B skos:exactMatch ncbigene:85479 semapv:UnspecifiedMatching -OMIM:613946 DNAJC5G skos:exactMatch hgnc:DNAJC5G semapv:UnspecifiedMatching +OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:24844 semapv:UnspecifiedMatching +OMIM:613946 DNAJC5G skos:exactMatch hgnc.symbol:DNAJC5G semapv:UnspecifiedMatching OMIM:613946 DNAJC5G skos:exactMatch ncbigene:285126 semapv:UnspecifiedMatching -OMIM:613947 SPATA6 skos:exactMatch hgnc:SPATA6 semapv:UnspecifiedMatching +OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:18309 semapv:UnspecifiedMatching +OMIM:613947 SPATA6 skos:exactMatch hgnc.symbol:SPATA6 semapv:UnspecifiedMatching OMIM:613947 SPATA6 skos:exactMatch ncbigene:54558 semapv:UnspecifiedMatching -OMIM:613948 SPATA8 skos:exactMatch hgnc:SPATA8 semapv:UnspecifiedMatching +OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:28676 semapv:UnspecifiedMatching +OMIM:613948 SPATA8 skos:exactMatch hgnc.symbol:SPATA8 semapv:UnspecifiedMatching OMIM:613948 SPATA8 skos:exactMatch ncbigene:145946 semapv:UnspecifiedMatching -OMIM:613952 TENT5C skos:exactMatch hgnc:TENT5C semapv:UnspecifiedMatching +OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:24712 semapv:UnspecifiedMatching +OMIM:613952 TENT5C skos:exactMatch hgnc.symbol:TENT5C semapv:UnspecifiedMatching OMIM:613952 TENT5C skos:exactMatch ncbigene:54855 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching +OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch UMLS:C5436279 semapv:UnspecifiedMatching -OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch orphanet.ordo:275872 semapv:UnspecifiedMatching -OMIM:613954 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch orphanet.ordo:803 semapv:UnspecifiedMatching +OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch UMLS:C3151409 semapv:UnspecifiedMatching -OMIM:613960 granulomatous disease, chronic, autosomal recessive, 3 skos:exactMatch orphanet.ordo:379 semapv:UnspecifiedMatching -OMIM:613961 TAS2R19 skos:exactMatch hgnc:TAS2R19 semapv:UnspecifiedMatching +OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:19108 semapv:UnspecifiedMatching +OMIM:613961 TAS2R19 skos:exactMatch hgnc.symbol:TAS2R19 semapv:UnspecifiedMatching OMIM:613961 TAS2R19 skos:exactMatch ncbigene:259294 semapv:UnspecifiedMatching -OMIM:613962 TAS2R20 skos:exactMatch hgnc:TAS2R20 semapv:UnspecifiedMatching +OMIM:613962 TAS2R20 skos:exactMatch hgnc.symbol:19109 semapv:UnspecifiedMatching +OMIM:613962 TAS2R20 skos:exactMatch hgnc.symbol:TAS2R20 semapv:UnspecifiedMatching OMIM:613962 TAS2R20 skos:exactMatch ncbigene:259295 semapv:UnspecifiedMatching -OMIM:613963 TAS2R30 skos:exactMatch hgnc:TAS2R30 semapv:UnspecifiedMatching +OMIM:613963 TAS2R30 skos:exactMatch hgnc.symbol:19112 semapv:UnspecifiedMatching +OMIM:613963 TAS2R30 skos:exactMatch hgnc.symbol:TAS2R30 semapv:UnspecifiedMatching OMIM:613963 TAS2R30 skos:exactMatch ncbigene:259293 semapv:UnspecifiedMatching -OMIM:613964 TAS2R40 skos:exactMatch hgnc:TAS2R40 semapv:UnspecifiedMatching +OMIM:613964 TAS2R40 skos:exactMatch hgnc.symbol:18885 semapv:UnspecifiedMatching +OMIM:613964 TAS2R40 skos:exactMatch hgnc.symbol:TAS2R40 semapv:UnspecifiedMatching OMIM:613964 TAS2R40 skos:exactMatch ncbigene:259286 semapv:UnspecifiedMatching -OMIM:613965 TAS2R41 skos:exactMatch hgnc:TAS2R41 semapv:UnspecifiedMatching +OMIM:613965 TAS2R41 skos:exactMatch hgnc.symbol:18883 semapv:UnspecifiedMatching +OMIM:613965 TAS2R41 skos:exactMatch hgnc.symbol:TAS2R41 semapv:UnspecifiedMatching OMIM:613965 TAS2R41 skos:exactMatch ncbigene:259287 semapv:UnspecifiedMatching -OMIM:613966 TAS2R42 skos:exactMatch hgnc:TAS2R42 semapv:UnspecifiedMatching +OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:18888 semapv:UnspecifiedMatching +OMIM:613966 TAS2R42 skos:exactMatch hgnc.symbol:TAS2R42 semapv:UnspecifiedMatching OMIM:613966 TAS2R42 skos:exactMatch ncbigene:353164 semapv:UnspecifiedMatching -OMIM:613967 TAS2R45 skos:exactMatch hgnc:TAS2R45 semapv:UnspecifiedMatching +OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:18876 semapv:UnspecifiedMatching +OMIM:613967 TAS2R45 skos:exactMatch hgnc.symbol:TAS2R45 semapv:UnspecifiedMatching OMIM:613967 TAS2R45 skos:exactMatch ncbigene:259291 semapv:UnspecifiedMatching -OMIM:613968 TAS2R60 skos:exactMatch hgnc:TAS2R60 semapv:UnspecifiedMatching +OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:20639 semapv:UnspecifiedMatching +OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:TAS2R60 semapv:UnspecifiedMatching OMIM:613968 TAS2R60 skos:exactMatch ncbigene:338398 semapv:UnspecifiedMatching +OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching -OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch orphanet.ordo:178469 semapv:UnspecifiedMatching OMIM:613973 CGAS skos:exactMatch UMLS:C3147783 semapv:UnspecifiedMatching -OMIM:613973 CGAS skos:exactMatch hgnc:CGAS semapv:UnspecifiedMatching +OMIM:613973 CGAS skos:exactMatch hgnc.symbol:21367 semapv:UnspecifiedMatching +OMIM:613973 CGAS skos:exactMatch hgnc.symbol:CGAS semapv:UnspecifiedMatching OMIM:613973 CGAS skos:exactMatch ncbigene:115004 semapv:UnspecifiedMatching OMIM:613974 DDX60 skos:exactMatch UMLS:C2239342 semapv:UnspecifiedMatching -OMIM:613974 DDX60 skos:exactMatch hgnc:DDX60 semapv:UnspecifiedMatching +OMIM:613974 DDX60 skos:exactMatch hgnc.symbol:25942 semapv:UnspecifiedMatching +OMIM:613974 DDX60 skos:exactMatch hgnc.symbol:DDX60 semapv:UnspecifiedMatching OMIM:613974 DDX60 skos:exactMatch ncbigene:55601 semapv:UnspecifiedMatching -OMIM:613975 IFI44L skos:exactMatch hgnc:IFI44L semapv:UnspecifiedMatching +OMIM:613975 IFI44L skos:exactMatch hgnc.symbol:17817 semapv:UnspecifiedMatching +OMIM:613975 IFI44L skos:exactMatch hgnc.symbol:IFI44L semapv:UnspecifiedMatching OMIM:613975 IFI44L skos:exactMatch ncbigene:10964 semapv:UnspecifiedMatching -OMIM:613976 FANCE skos:exactMatch hgnc:FANCE semapv:UnspecifiedMatching +OMIM:613976 FANCE skos:exactMatch hgnc.symbol:3586 semapv:UnspecifiedMatching +OMIM:613976 FANCE skos:exactMatch hgnc.symbol:FANCE semapv:UnspecifiedMatching OMIM:613976 FANCE skos:exactMatch ncbigene:2178 semapv:UnspecifiedMatching -OMIM:613979 PRPF6 skos:exactMatch hgnc:PRPF6 semapv:UnspecifiedMatching +OMIM:613979 PRPF6 skos:exactMatch hgnc.symbol:15860 semapv:UnspecifiedMatching +OMIM:613979 PRPF6 skos:exactMatch hgnc.symbol:PRPF6 semapv:UnspecifiedMatching OMIM:613979 PRPF6 skos:exactMatch ncbigene:24148 semapv:UnspecifiedMatching +OMIM:613981 hypotrichosis 3 skos:exactMatch Orphanet:90368 semapv:UnspecifiedMatching OMIM:613981 hypotrichosis 3 skos:exactMatch UMLS:C3151432 semapv:UnspecifiedMatching -OMIM:613981 hypotrichosis 3 skos:exactMatch orphanet.ordo:90368 semapv:UnspecifiedMatching OMIM:613984 FANCD2 skos:exactMatch UMLS:C1414530 semapv:UnspecifiedMatching OMIM:613984 FANCD2 skos:exactMatch UMLS:C3160738 semapv:UnspecifiedMatching -OMIM:613984 FANCD2 skos:exactMatch hgnc:FANCD2 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:3585 semapv:UnspecifiedMatching +OMIM:613984 FANCD2 skos:exactMatch hgnc.symbol:FANCD2 semapv:UnspecifiedMatching OMIM:613984 FANCD2 skos:exactMatch ncbigene:2177 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231214 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:231222 semapv:UnspecifiedMatching +OMIM:613985 beta-thalassemia skos:exactMatch Orphanet:848 semapv:UnspecifiedMatching OMIM:613985 beta-thalassemia skos:exactMatch UMLS:C0005283 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch orphanet.ordo:231214 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch orphanet.ordo:231222 semapv:UnspecifiedMatching -OMIM:613985 beta-thalassemia skos:exactMatch orphanet.ordo:848 semapv:UnspecifiedMatching -OMIM:613991 CDC42BPG skos:exactMatch hgnc:CDC42BPG semapv:UnspecifiedMatching +OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:29829 semapv:UnspecifiedMatching +OMIM:613991 CDC42BPG skos:exactMatch hgnc.symbol:CDC42BPG semapv:UnspecifiedMatching OMIM:613991 CDC42BPG skos:exactMatch ncbigene:55561 semapv:UnspecifiedMatching -OMIM:613992 PPP2R2D skos:exactMatch hgnc:PPP2R2D semapv:UnspecifiedMatching +OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:23732 semapv:UnspecifiedMatching +OMIM:613992 PPP2R2D skos:exactMatch hgnc.symbol:PPP2R2D semapv:UnspecifiedMatching OMIM:613992 PPP2R2D skos:exactMatch ncbigene:55844 semapv:UnspecifiedMatching -OMIM:613993 MYL7 skos:exactMatch hgnc:MYL7 semapv:UnspecifiedMatching +OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:21719 semapv:UnspecifiedMatching +OMIM:613993 MYL7 skos:exactMatch hgnc.symbol:MYL7 semapv:UnspecifiedMatching OMIM:613993 MYL7 skos:exactMatch ncbigene:58498 semapv:UnspecifiedMatching -OMIM:613994 NBPF4 skos:exactMatch hgnc:NBPF4 semapv:UnspecifiedMatching +OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:26550 semapv:UnspecifiedMatching +OMIM:613994 NBPF4 skos:exactMatch hgnc.symbol:NBPF4 semapv:UnspecifiedMatching OMIM:613994 NBPF4 skos:exactMatch ncbigene:148545 semapv:UnspecifiedMatching -OMIM:613995 NBPF5 skos:exactMatch hgnc:NBPF5P semapv:UnspecifiedMatching +OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:24491 semapv:UnspecifiedMatching +OMIM:613995 NBPF5 skos:exactMatch hgnc.symbol:NBPF5P semapv:UnspecifiedMatching OMIM:613995 NBPF5 skos:exactMatch ncbigene:100507044 semapv:UnspecifiedMatching -OMIM:613996 NBPF6 skos:exactMatch hgnc:NBPF6 semapv:UnspecifiedMatching +OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:31988 semapv:UnspecifiedMatching +OMIM:613996 NBPF6 skos:exactMatch hgnc.symbol:NBPF6 semapv:UnspecifiedMatching OMIM:613996 NBPF6 skos:exactMatch ncbigene:653149 semapv:UnspecifiedMatching -OMIM:613997 NBPF7 skos:exactMatch hgnc:NBPF7P semapv:UnspecifiedMatching +OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:31989 semapv:UnspecifiedMatching +OMIM:613997 NBPF7 skos:exactMatch hgnc.symbol:NBPF7P semapv:UnspecifiedMatching OMIM:613997 NBPF7 skos:exactMatch ncbigene:343505 semapv:UnspecifiedMatching -OMIM:613998 NBPF8 skos:exactMatch hgnc:NBPF8 semapv:UnspecifiedMatching +OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:31990 semapv:UnspecifiedMatching +OMIM:613998 NBPF8 skos:exactMatch hgnc.symbol:NBPF8 semapv:UnspecifiedMatching OMIM:613998 NBPF8 skos:exactMatch ncbigene:728841 semapv:UnspecifiedMatching -OMIM:613999 NBPF9 skos:exactMatch hgnc:NBPF9 semapv:UnspecifiedMatching +OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:31991 semapv:UnspecifiedMatching +OMIM:613999 NBPF9 skos:exactMatch hgnc.symbol:NBPF9 semapv:UnspecifiedMatching OMIM:613999 NBPF9 skos:exactMatch ncbigene:400818 semapv:UnspecifiedMatching -OMIM:614000 NBPF10 skos:exactMatch hgnc:NBPF10 semapv:UnspecifiedMatching +OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:31992 semapv:UnspecifiedMatching +OMIM:614000 NBPF10 skos:exactMatch hgnc.symbol:NBPF10 semapv:UnspecifiedMatching OMIM:614000 NBPF10 skos:exactMatch ncbigene:100132406 semapv:UnspecifiedMatching -OMIM:614001 NBPF11 skos:exactMatch hgnc:NBPF11 semapv:UnspecifiedMatching +OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:31993 semapv:UnspecifiedMatching +OMIM:614001 NBPF11 skos:exactMatch hgnc.symbol:NBPF11 semapv:UnspecifiedMatching OMIM:614001 NBPF11 skos:exactMatch ncbigene:200030 semapv:UnspecifiedMatching -OMIM:614003 NBPF14 skos:exactMatch hgnc:NBPF14 semapv:UnspecifiedMatching +OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:25232 semapv:UnspecifiedMatching +OMIM:614003 NBPF14 skos:exactMatch hgnc.symbol:NBPF14 semapv:UnspecifiedMatching OMIM:614003 NBPF14 skos:exactMatch ncbigene:25832 semapv:UnspecifiedMatching -OMIM:614006 NBPF19 skos:exactMatch hgnc:NBPF19 semapv:UnspecifiedMatching +OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:31999 semapv:UnspecifiedMatching +OMIM:614006 NBPF19 skos:exactMatch hgnc.symbol:NBPF19 semapv:UnspecifiedMatching OMIM:614006 NBPF19 skos:exactMatch ncbigene:101060226 semapv:UnspecifiedMatching -OMIM:614007 NBPF20 skos:exactMatch hgnc:NBPF20 semapv:UnspecifiedMatching +OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:32000 semapv:UnspecifiedMatching +OMIM:614007 NBPF20 skos:exactMatch hgnc.symbol:NBPF20 semapv:UnspecifiedMatching OMIM:614007 NBPF20 skos:exactMatch ncbigene:100288142 semapv:UnspecifiedMatching -OMIM:614010 IMPAD1 skos:exactMatch hgnc:BPNT2 semapv:UnspecifiedMatching +OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:26019 semapv:UnspecifiedMatching +OMIM:614010 IMPAD1 skos:exactMatch hgnc.symbol:BPNT2 semapv:UnspecifiedMatching OMIM:614010 IMPAD1 skos:exactMatch ncbigene:54928 semapv:UnspecifiedMatching -OMIM:614011 ERVK-4 skos:exactMatch hgnc:ERVK-4 semapv:UnspecifiedMatching +OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:13756 semapv:UnspecifiedMatching +OMIM:614011 ERVK-4 skos:exactMatch hgnc.symbol:ERVK-4 semapv:UnspecifiedMatching OMIM:614011 ERVK-4 skos:exactMatch ncbigene:60359 semapv:UnspecifiedMatching -OMIM:614012 ERVK-5 skos:exactMatch hgnc:ERVK-5 semapv:UnspecifiedMatching +OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:13757 semapv:UnspecifiedMatching +OMIM:614012 ERVK-5 skos:exactMatch hgnc.symbol:ERVK-5 semapv:UnspecifiedMatching OMIM:614012 ERVK-5 skos:exactMatch ncbigene:60358 semapv:UnspecifiedMatching -OMIM:614013 ERVK-7 skos:exactMatch hgnc:ERVK-7 semapv:UnspecifiedMatching +OMIM:614013 ERVK-7 skos:exactMatch hgnc.symbol:31828 semapv:UnspecifiedMatching +OMIM:614013 ERVK-7 skos:exactMatch hgnc.symbol:ERVK-7 semapv:UnspecifiedMatching OMIM:614013 ERVK-7 skos:exactMatch ncbigene:449619 semapv:UnspecifiedMatching -OMIM:614014 RNASE9 skos:exactMatch hgnc:RNASE9 semapv:UnspecifiedMatching +OMIM:614014 RNASE9 skos:exactMatch hgnc.symbol:20673 semapv:UnspecifiedMatching +OMIM:614014 RNASE9 skos:exactMatch hgnc.symbol:RNASE9 semapv:UnspecifiedMatching OMIM:614014 RNASE9 skos:exactMatch ncbigene:390443 semapv:UnspecifiedMatching -OMIM:614015 DAGLA skos:exactMatch hgnc:DAGLA semapv:UnspecifiedMatching +OMIM:614015 DAGLA skos:exactMatch hgnc.symbol:1165 semapv:UnspecifiedMatching +OMIM:614015 DAGLA skos:exactMatch hgnc.symbol:DAGLA semapv:UnspecifiedMatching OMIM:614015 DAGLA skos:exactMatch ncbigene:747 semapv:UnspecifiedMatching -OMIM:614016 DAGLB skos:exactMatch hgnc:DAGLB semapv:UnspecifiedMatching +OMIM:614016 DAGLB skos:exactMatch hgnc.symbol:28923 semapv:UnspecifiedMatching +OMIM:614016 DAGLB skos:exactMatch hgnc.symbol:DAGLB semapv:UnspecifiedMatching OMIM:614016 DAGLB skos:exactMatch ncbigene:221955 semapv:UnspecifiedMatching +OMIM:614019 lissencephaly 4 skos:exactMatch Orphanet:1083 semapv:UnspecifiedMatching OMIM:614019 lissencephaly 4 skos:exactMatch UMLS:C3151461 semapv:UnspecifiedMatching -OMIM:614019 lissencephaly 4 skos:exactMatch orphanet.ordo:1083 semapv:UnspecifiedMatching +OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch Orphanet:3286 semapv:UnspecifiedMatching OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching -OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 skos:exactMatch orphanet.ordo:3286 semapv:UnspecifiedMatching +OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch Orphanet:334 semapv:UnspecifiedMatching OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch UMLS:C3151464 semapv:UnspecifiedMatching -OMIM:614022 atrial fibrillation, familial, 10 skos:exactMatch orphanet.ordo:334 semapv:UnspecifiedMatching OMIM:614026 KIF26B skos:exactMatch UMLS:C1825708 semapv:UnspecifiedMatching OMIM:614026 KIF26B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614026 KIF26B skos:exactMatch hgnc:KIF26B semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch hgnc.symbol:25484 semapv:UnspecifiedMatching +OMIM:614026 KIF26B skos:exactMatch hgnc.symbol:KIF26B semapv:UnspecifiedMatching OMIM:614026 KIF26B skos:exactMatch ncbigene:55083 semapv:UnspecifiedMatching -OMIM:614027 INSM2 skos:exactMatch hgnc:INSM2 semapv:UnspecifiedMatching +OMIM:614027 INSM2 skos:exactMatch hgnc.symbol:17539 semapv:UnspecifiedMatching +OMIM:614027 INSM2 skos:exactMatch hgnc.symbol:INSM2 semapv:UnspecifiedMatching OMIM:614027 INSM2 skos:exactMatch ncbigene:84684 semapv:UnspecifiedMatching -OMIM:614029 SPDYA skos:exactMatch hgnc:SPDYA semapv:UnspecifiedMatching +OMIM:614029 SPDYA skos:exactMatch hgnc.symbol:30613 semapv:UnspecifiedMatching +OMIM:614029 SPDYA skos:exactMatch hgnc.symbol:SPDYA semapv:UnspecifiedMatching OMIM:614029 SPDYA skos:exactMatch ncbigene:245711 semapv:UnspecifiedMatching -OMIM:614030 SPDYC skos:exactMatch hgnc:SPDYC semapv:UnspecifiedMatching +OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:32681 semapv:UnspecifiedMatching +OMIM:614030 SPDYC skos:exactMatch hgnc.symbol:SPDYC semapv:UnspecifiedMatching OMIM:614030 SPDYC skos:exactMatch ncbigene:387778 semapv:UnspecifiedMatching -OMIM:614031 RANBP10 skos:exactMatch hgnc:RANBP10 semapv:UnspecifiedMatching +OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:29285 semapv:UnspecifiedMatching +OMIM:614031 RANBP10 skos:exactMatch hgnc.symbol:RANBP10 semapv:UnspecifiedMatching OMIM:614031 RANBP10 skos:exactMatch ncbigene:57610 semapv:UnspecifiedMatching -OMIM:614032 TOX4 skos:exactMatch hgnc:TOX4 semapv:UnspecifiedMatching +OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:20161 semapv:UnspecifiedMatching +OMIM:614032 TOX4 skos:exactMatch hgnc.symbol:TOX4 semapv:UnspecifiedMatching OMIM:614032 TOX4 skos:exactMatch ncbigene:9878 semapv:UnspecifiedMatching -OMIM:614040 ZNF467 skos:exactMatch hgnc:ZNF467 semapv:UnspecifiedMatching +OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:23154 semapv:UnspecifiedMatching +OMIM:614040 ZNF467 skos:exactMatch hgnc.symbol:ZNF467 semapv:UnspecifiedMatching OMIM:614040 ZNF467 skos:exactMatch ncbigene:168544 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C0035335 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C0694889 semapv:UnspecifiedMatching @@ -34435,6108 +48121,8542 @@ OMIM:614041 RB1 skos:exactMatch UMLS:C1851162 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C2608045 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C4017354 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch UMLS:C4017355 semapv:UnspecifiedMatching -OMIM:614041 RB1 skos:exactMatch hgnc:RB1 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch hgnc.symbol:9884 semapv:UnspecifiedMatching +OMIM:614041 RB1 skos:exactMatch hgnc.symbol:RB1 semapv:UnspecifiedMatching OMIM:614041 RB1 skos:exactMatch ncbigene:5925 semapv:UnspecifiedMatching -OMIM:614043 LRRFIP2 skos:exactMatch hgnc:LRRFIP2 semapv:UnspecifiedMatching +OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:6703 semapv:UnspecifiedMatching +OMIM:614043 LRRFIP2 skos:exactMatch hgnc.symbol:LRRFIP2 semapv:UnspecifiedMatching OMIM:614043 LRRFIP2 skos:exactMatch ncbigene:9209 semapv:UnspecifiedMatching -OMIM:614045 FAM129B skos:exactMatch hgnc:NIBAN2 semapv:UnspecifiedMatching +OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:25282 semapv:UnspecifiedMatching +OMIM:614045 FAM129B skos:exactMatch hgnc.symbol:NIBAN2 semapv:UnspecifiedMatching OMIM:614045 FAM129B skos:exactMatch ncbigene:64855 semapv:UnspecifiedMatching -OMIM:614046 ARGLU1 skos:exactMatch hgnc:ARGLU1 semapv:UnspecifiedMatching +OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:25482 semapv:UnspecifiedMatching +OMIM:614046 ARGLU1 skos:exactMatch hgnc.symbol:ARGLU1 semapv:UnspecifiedMatching OMIM:614046 ARGLU1 skos:exactMatch ncbigene:55082 semapv:UnspecifiedMatching -OMIM:614047 MTHFD2L skos:exactMatch hgnc:MTHFD2L semapv:UnspecifiedMatching +OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:31865 semapv:UnspecifiedMatching +OMIM:614047 MTHFD2L skos:exactMatch hgnc.symbol:MTHFD2L semapv:UnspecifiedMatching OMIM:614047 MTHFD2L skos:exactMatch ncbigene:441024 semapv:UnspecifiedMatching -OMIM:614048 ELAPOR2 skos:exactMatch hgnc:ELAPOR2 semapv:UnspecifiedMatching +OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:21945 semapv:UnspecifiedMatching +OMIM:614048 ELAPOR2 skos:exactMatch hgnc.symbol:ELAPOR2 semapv:UnspecifiedMatching OMIM:614048 ELAPOR2 skos:exactMatch ncbigene:222223 semapv:UnspecifiedMatching +OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch Orphanet:1194 semapv:UnspecifiedMatching OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching -OMIM:614052 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 skos:exactMatch orphanet.ordo:1194 semapv:UnspecifiedMatching +OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch UMLS:C3279708 semapv:UnspecifiedMatching -OMIM:614053 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 skos:exactMatch orphanet.ordo:254913 semapv:UnspecifiedMatching OMIM:614054 RIMKLB skos:exactMatch UMLS:C1825155 semapv:UnspecifiedMatching -OMIM:614054 RIMKLB skos:exactMatch hgnc:RIMKLB semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:29228 semapv:UnspecifiedMatching +OMIM:614054 RIMKLB skos:exactMatch hgnc.symbol:RIMKLB semapv:UnspecifiedMatching OMIM:614054 RIMKLB skos:exactMatch ncbigene:57494 semapv:UnspecifiedMatching -OMIM:614056 PPP1R26 skos:exactMatch hgnc:PPP1R26 semapv:UnspecifiedMatching +OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:29089 semapv:UnspecifiedMatching +OMIM:614056 PPP1R26 skos:exactMatch hgnc.symbol:PPP1R26 semapv:UnspecifiedMatching OMIM:614056 PPP1R26 skos:exactMatch ncbigene:9858 semapv:UnspecifiedMatching -OMIM:614057 MIR409 skos:exactMatch hgnc:MIR409 semapv:UnspecifiedMatching +OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:32055 semapv:UnspecifiedMatching +OMIM:614057 MIR409 skos:exactMatch hgnc.symbol:MIR409 semapv:UnspecifiedMatching OMIM:614057 MIR409 skos:exactMatch ncbigene:574413 semapv:UnspecifiedMatching -OMIM:614058 KHK skos:exactMatch hgnc:KHK semapv:UnspecifiedMatching +OMIM:614058 KHK skos:exactMatch hgnc.symbol:6315 semapv:UnspecifiedMatching +OMIM:614058 KHK skos:exactMatch hgnc.symbol:KHK semapv:UnspecifiedMatching OMIM:614058 KHK skos:exactMatch ncbigene:3795 semapv:UnspecifiedMatching -OMIM:614059 MIR338 skos:exactMatch hgnc:MIR338 semapv:UnspecifiedMatching +OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:31775 semapv:UnspecifiedMatching +OMIM:614059 MIR338 skos:exactMatch hgnc.symbol:MIR338 semapv:UnspecifiedMatching OMIM:614059 MIR338 skos:exactMatch ncbigene:442906 semapv:UnspecifiedMatching -OMIM:614060 HOTTIP skos:exactMatch hgnc:HOTTIP semapv:UnspecifiedMatching +OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:37461 semapv:UnspecifiedMatching +OMIM:614060 HOTTIP skos:exactMatch hgnc.symbol:HOTTIP semapv:UnspecifiedMatching OMIM:614060 HOTTIP skos:exactMatch ncbigene:100316868 semapv:UnspecifiedMatching -OMIM:614061 OLFM4 skos:exactMatch hgnc:OLFM4 semapv:UnspecifiedMatching +OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:17190 semapv:UnspecifiedMatching +OMIM:614061 OLFM4 skos:exactMatch hgnc.symbol:OLFM4 semapv:UnspecifiedMatching OMIM:614061 OLFM4 skos:exactMatch ncbigene:10562 semapv:UnspecifiedMatching -OMIM:614062 CDC42BPB skos:exactMatch hgnc:CDC42BPB semapv:UnspecifiedMatching +OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:1738 semapv:UnspecifiedMatching +OMIM:614062 CDC42BPB skos:exactMatch hgnc.symbol:CDC42BPB semapv:UnspecifiedMatching OMIM:614062 CDC42BPB skos:exactMatch ncbigene:9578 semapv:UnspecifiedMatching -OMIM:614064 ZBTB24 skos:exactMatch hgnc:ZBTB24 semapv:UnspecifiedMatching +OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:21143 semapv:UnspecifiedMatching +OMIM:614064 ZBTB24 skos:exactMatch hgnc.symbol:ZBTB24 semapv:UnspecifiedMatching OMIM:614064 ZBTB24 skos:exactMatch ncbigene:9841 semapv:UnspecifiedMatching +OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch Orphanet:280763 semapv:UnspecifiedMatching OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch UMLS:C3279738 semapv:UnspecifiedMatching -OMIM:614066 spastic paraplegia 47, autosomal recessive skos:exactMatch orphanet.ordo:280763 semapv:UnspecifiedMatching -OMIM:614068 IFT43 skos:exactMatch hgnc:IFT43 semapv:UnspecifiedMatching +OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:29669 semapv:UnspecifiedMatching +OMIM:614068 IFT43 skos:exactMatch hgnc.symbol:IFT43 semapv:UnspecifiedMatching OMIM:614068 IFT43 skos:exactMatch ncbigene:112752 semapv:UnspecifiedMatching -OMIM:614071 MYZAP skos:exactMatch hgnc:MYZAP semapv:UnspecifiedMatching +OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:43444 semapv:UnspecifiedMatching +OMIM:614071 MYZAP skos:exactMatch hgnc.symbol:MYZAP semapv:UnspecifiedMatching OMIM:614071 MYZAP skos:exactMatch ncbigene:100820829 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch UMLS:C3888001 semapv:UnspecifiedMatching -OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch orphanet.ordo:231512 semapv:UnspecifiedMatching -OMIM:614072 hermansky-pudlak syndrome 3 skos:exactMatch orphanet.ordo:79430 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:231500 semapv:UnspecifiedMatching +OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch UMLS:C3484357 semapv:UnspecifiedMatching -OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch orphanet.ordo:231500 semapv:UnspecifiedMatching -OMIM:614073 hermansky-pudlak syndrome 4 skos:exactMatch orphanet.ordo:79430 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch UMLS:C3888004 semapv:UnspecifiedMatching -OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch orphanet.ordo:231512 semapv:UnspecifiedMatching -OMIM:614074 hermansky-pudlak syndrome 5 skos:exactMatch orphanet.ordo:79430 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:231512 semapv:UnspecifiedMatching +OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch Orphanet:79430 semapv:UnspecifiedMatching OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch UMLS:C3888007 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch orphanet.ordo:231512 semapv:UnspecifiedMatching -OMIM:614075 hermansky-pudlak syndrome 6 skos:exactMatch orphanet.ordo:79430 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch UMLS:C1538106 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching -OMIM:614084 WEE2 skos:exactMatch hgnc:WEE2 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:19684 semapv:UnspecifiedMatching +OMIM:614084 WEE2 skos:exactMatch hgnc.symbol:WEE2 semapv:UnspecifiedMatching OMIM:614084 WEE2 skos:exactMatch ncbigene:494551 semapv:UnspecifiedMatching -OMIM:614085 RHNO1 skos:exactMatch hgnc:RHNO1 semapv:UnspecifiedMatching +OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:28206 semapv:UnspecifiedMatching +OMIM:614085 RHNO1 skos:exactMatch hgnc.symbol:RHNO1 semapv:UnspecifiedMatching OMIM:614085 RHNO1 skos:exactMatch ncbigene:83695 semapv:UnspecifiedMatching OMIM:614086 MCIDAS skos:exactMatch UMLS:C3463911 semapv:UnspecifiedMatching OMIM:614086 MCIDAS skos:exactMatch UMLS:C5231464 semapv:UnspecifiedMatching -OMIM:614086 MCIDAS skos:exactMatch hgnc:MCIDAS semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:40050 semapv:UnspecifiedMatching +OMIM:614086 MCIDAS skos:exactMatch hgnc.symbol:MCIDAS semapv:UnspecifiedMatching OMIM:614086 MCIDAS skos:exactMatch ncbigene:345643 semapv:UnspecifiedMatching -OMIM:614088 ICAM4 skos:exactMatch hgnc:ICAM4 semapv:UnspecifiedMatching +OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:5347 semapv:UnspecifiedMatching +OMIM:614088 ICAM4 skos:exactMatch hgnc.symbol:ICAM4 semapv:UnspecifiedMatching OMIM:614088 ICAM4 skos:exactMatch ncbigene:3386 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 semapv:UnspecifiedMatching +OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:93271 semapv:UnspecifiedMatching OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C3279792 semapv:UnspecifiedMatching OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch UMLS:C4747658 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch orphanet.ordo:498497 semapv:UnspecifiedMatching -OMIM:614091 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch orphanet.ordo:93271 semapv:UnspecifiedMatching -OMIM:614092 RILPL1 skos:exactMatch hgnc:RILPL1 semapv:UnspecifiedMatching +OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:26814 semapv:UnspecifiedMatching +OMIM:614092 RILPL1 skos:exactMatch hgnc.symbol:RILPL1 semapv:UnspecifiedMatching OMIM:614092 RILPL1 skos:exactMatch ncbigene:353116 semapv:UnspecifiedMatching -OMIM:614093 RILPL2 skos:exactMatch hgnc:RILPL2 semapv:UnspecifiedMatching +OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:28787 semapv:UnspecifiedMatching +OMIM:614093 RILPL2 skos:exactMatch hgnc.symbol:RILPL2 semapv:UnspecifiedMatching OMIM:614093 RILPL2 skos:exactMatch ncbigene:196383 semapv:UnspecifiedMatching -OMIM:614094 MARVELD3 skos:exactMatch hgnc:MARVELD3 semapv:UnspecifiedMatching +OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:30525 semapv:UnspecifiedMatching +OMIM:614094 MARVELD3 skos:exactMatch hgnc.symbol:MARVELD3 semapv:UnspecifiedMatching OMIM:614094 MARVELD3 skos:exactMatch ncbigene:91862 semapv:UnspecifiedMatching -OMIM:614095 PCK2 skos:exactMatch hgnc:PCK2 semapv:UnspecifiedMatching +OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:8725 semapv:UnspecifiedMatching +OMIM:614095 PCK2 skos:exactMatch hgnc.symbol:PCK2 semapv:UnspecifiedMatching OMIM:614095 PCK2 skos:exactMatch ncbigene:5106 semapv:UnspecifiedMatching +OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 semapv:UnspecifiedMatching OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch UMLS:C3279840 semapv:UnspecifiedMatching -OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch orphanet.ordo:289307 semapv:UnspecifiedMatching -OMIM:614106 MLIP skos:exactMatch hgnc:MLIP semapv:UnspecifiedMatching +OMIM:614106 MLIP skos:exactMatch hgnc.symbol:21355 semapv:UnspecifiedMatching +OMIM:614106 MLIP skos:exactMatch hgnc.symbol:MLIP semapv:UnspecifiedMatching OMIM:614106 MLIP skos:exactMatch ncbigene:90523 semapv:UnspecifiedMatching OMIM:614107 KPNA7 skos:exactMatch UMLS:C2681636 semapv:UnspecifiedMatching OMIM:614107 KPNA7 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:614107 KPNA7 skos:exactMatch hgnc:KPNA7 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:21839 semapv:UnspecifiedMatching +OMIM:614107 KPNA7 skos:exactMatch hgnc.symbol:KPNA7 semapv:UnspecifiedMatching OMIM:614107 KPNA7 skos:exactMatch ncbigene:402569 semapv:UnspecifiedMatching -OMIM:614108 BPIFB2 skos:exactMatch hgnc:BPIFB2 semapv:UnspecifiedMatching +OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:16177 semapv:UnspecifiedMatching +OMIM:614108 BPIFB2 skos:exactMatch hgnc.symbol:BPIFB2 semapv:UnspecifiedMatching OMIM:614108 BPIFB2 skos:exactMatch ncbigene:80341 semapv:UnspecifiedMatching -OMIM:614109 BPIFC skos:exactMatch hgnc:BPIFC semapv:UnspecifiedMatching +OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:16503 semapv:UnspecifiedMatching +OMIM:614109 BPIFC skos:exactMatch hgnc.symbol:BPIFC semapv:UnspecifiedMatching OMIM:614109 BPIFC skos:exactMatch ncbigene:254240 semapv:UnspecifiedMatching -OMIM:614110 BPIFB6 skos:exactMatch hgnc:BPIFB6 semapv:UnspecifiedMatching +OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:16504 semapv:UnspecifiedMatching +OMIM:614110 BPIFB6 skos:exactMatch hgnc.symbol:BPIFB6 semapv:UnspecifiedMatching OMIM:614110 BPIFB6 skos:exactMatch ncbigene:128859 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:255138 semapv:UnspecifiedMatching +OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch UMLS:C3279841 semapv:UnspecifiedMatching -OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch orphanet.ordo:255138 semapv:UnspecifiedMatching -OMIM:614111 pyruvate dehydrogenase e1-beta deficiency skos:exactMatch orphanet.ordo:765 semapv:UnspecifiedMatching -OMIM:614112 MIR320A skos:exactMatch hgnc:MIR320A semapv:UnspecifiedMatching +OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:31632 semapv:UnspecifiedMatching +OMIM:614112 MIR320A skos:exactMatch hgnc.symbol:MIR320A semapv:UnspecifiedMatching OMIM:614112 MIR320A skos:exactMatch ncbigene:407037 semapv:UnspecifiedMatching +OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch Orphanet:1052 semapv:UnspecifiedMatching OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch UMLS:C3279843 semapv:UnspecifiedMatching -OMIM:614114 mosaic variegated aneuploidy syndrome 2 skos:exactMatch orphanet.ordo:1052 semapv:UnspecifiedMatching -OMIM:614117 EXOC3L1 skos:exactMatch hgnc:EXOC3L1 semapv:UnspecifiedMatching +OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:27540 semapv:UnspecifiedMatching +OMIM:614117 EXOC3L1 skos:exactMatch hgnc.symbol:EXOC3L1 semapv:UnspecifiedMatching OMIM:614117 EXOC3L1 skos:exactMatch ncbigene:283849 semapv:UnspecifiedMatching -OMIM:614118 TSHZ2 skos:exactMatch hgnc:TSHZ2 semapv:UnspecifiedMatching +OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:13010 semapv:UnspecifiedMatching +OMIM:614118 TSHZ2 skos:exactMatch hgnc.symbol:TSHZ2 semapv:UnspecifiedMatching OMIM:614118 TSHZ2 skos:exactMatch ncbigene:128553 semapv:UnspecifiedMatching -OMIM:614119 TSHZ3 skos:exactMatch hgnc:TSHZ3 semapv:UnspecifiedMatching +OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:30700 semapv:UnspecifiedMatching +OMIM:614119 TSHZ3 skos:exactMatch hgnc.symbol:TSHZ3 semapv:UnspecifiedMatching OMIM:614119 TSHZ3 skos:exactMatch ncbigene:57616 semapv:UnspecifiedMatching -OMIM:614121 TENT2 skos:exactMatch hgnc:TENT2 semapv:UnspecifiedMatching +OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:26776 semapv:UnspecifiedMatching +OMIM:614121 TENT2 skos:exactMatch hgnc.symbol:TENT2 semapv:UnspecifiedMatching OMIM:614121 TENT2 skos:exactMatch ncbigene:167153 semapv:UnspecifiedMatching OMIM:614123 TMCO1 skos:exactMatch UMLS:C1823293 semapv:UnspecifiedMatching OMIM:614123 TMCO1 skos:exactMatch UMLS:C1859252 semapv:UnspecifiedMatching -OMIM:614123 TMCO1 skos:exactMatch hgnc:TMCO1 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:18188 semapv:UnspecifiedMatching +OMIM:614123 TMCO1 skos:exactMatch hgnc.symbol:TMCO1 semapv:UnspecifiedMatching OMIM:614123 TMCO1 skos:exactMatch ncbigene:54499 semapv:UnspecifiedMatching OMIM:614124 GPCPD1 skos:exactMatch UMLS:C2829540 semapv:UnspecifiedMatching -OMIM:614124 GPCPD1 skos:exactMatch hgnc:GPCPD1 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:26957 semapv:UnspecifiedMatching +OMIM:614124 GPCPD1 skos:exactMatch hgnc.symbol:GPCPD1 semapv:UnspecifiedMatching OMIM:614124 GPCPD1 skos:exactMatch ncbigene:56261 semapv:UnspecifiedMatching -OMIM:614125 DPPA4 skos:exactMatch hgnc:DPPA4 semapv:UnspecifiedMatching +OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:19200 semapv:UnspecifiedMatching +OMIM:614125 DPPA4 skos:exactMatch hgnc.symbol:DPPA4 semapv:UnspecifiedMatching OMIM:614125 DPPA4 skos:exactMatch ncbigene:55211 semapv:UnspecifiedMatching -OMIM:614126 MTARC1 skos:exactMatch hgnc:MTARC1 semapv:UnspecifiedMatching +OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:26189 semapv:UnspecifiedMatching +OMIM:614126 MTARC1 skos:exactMatch hgnc.symbol:MTARC1 semapv:UnspecifiedMatching OMIM:614126 MTARC1 skos:exactMatch ncbigene:64757 semapv:UnspecifiedMatching -OMIM:614127 MTARC2 skos:exactMatch hgnc:MTARC2 semapv:UnspecifiedMatching +OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:26064 semapv:UnspecifiedMatching +OMIM:614127 MTARC2 skos:exactMatch hgnc.symbol:MTARC2 semapv:UnspecifiedMatching OMIM:614127 MTARC2 skos:exactMatch ncbigene:54996 semapv:UnspecifiedMatching -OMIM:614130 ADAD1 skos:exactMatch hgnc:ADAD1 semapv:UnspecifiedMatching +OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:30713 semapv:UnspecifiedMatching +OMIM:614130 ADAD1 skos:exactMatch hgnc.symbol:ADAD1 semapv:UnspecifiedMatching OMIM:614130 ADAD1 skos:exactMatch ncbigene:132612 semapv:UnspecifiedMatching -OMIM:614133 HEPACAM2 skos:exactMatch hgnc:HEPACAM2 semapv:UnspecifiedMatching +OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:27364 semapv:UnspecifiedMatching +OMIM:614133 HEPACAM2 skos:exactMatch hgnc.symbol:HEPACAM2 semapv:UnspecifiedMatching OMIM:614133 HEPACAM2 skos:exactMatch ncbigene:253012 semapv:UnspecifiedMatching -OMIM:614136 TRAPPC8 skos:exactMatch hgnc:TRAPPC8 semapv:UnspecifiedMatching +OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:29169 semapv:UnspecifiedMatching +OMIM:614136 TRAPPC8 skos:exactMatch hgnc.symbol:TRAPPC8 semapv:UnspecifiedMatching OMIM:614136 TRAPPC8 skos:exactMatch ncbigene:22878 semapv:UnspecifiedMatching -OMIM:614137 TRAPPC3L skos:exactMatch hgnc:TRAPPC3L semapv:UnspecifiedMatching +OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:21090 semapv:UnspecifiedMatching +OMIM:614137 TRAPPC3L skos:exactMatch hgnc.symbol:TRAPPC3L semapv:UnspecifiedMatching OMIM:614137 TRAPPC3L skos:exactMatch ncbigene:100128327 semapv:UnspecifiedMatching -OMIM:614138 TRAPPC11 skos:exactMatch hgnc:TRAPPC11 semapv:UnspecifiedMatching +OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:25751 semapv:UnspecifiedMatching +OMIM:614138 TRAPPC11 skos:exactMatch hgnc.symbol:TRAPPC11 semapv:UnspecifiedMatching OMIM:614138 TRAPPC11 skos:exactMatch ncbigene:60684 semapv:UnspecifiedMatching -OMIM:614139 TRAPPC12 skos:exactMatch hgnc:TRAPPC12 semapv:UnspecifiedMatching +OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:24284 semapv:UnspecifiedMatching +OMIM:614139 TRAPPC12 skos:exactMatch hgnc.symbol:TRAPPC12 semapv:UnspecifiedMatching OMIM:614139 TRAPPC12 skos:exactMatch ncbigene:51112 semapv:UnspecifiedMatching -OMIM:614140 SPECC1L skos:exactMatch hgnc:SPECC1L semapv:UnspecifiedMatching +OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:29022 semapv:UnspecifiedMatching +OMIM:614140 SPECC1L skos:exactMatch hgnc.symbol:SPECC1L semapv:UnspecifiedMatching OMIM:614140 SPECC1L skos:exactMatch ncbigene:23384 semapv:UnspecifiedMatching -OMIM:614141 TRIM2 skos:exactMatch hgnc:TRIM2 semapv:UnspecifiedMatching +OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:15974 semapv:UnspecifiedMatching +OMIM:614141 TRIM2 skos:exactMatch hgnc.symbol:TRIM2 semapv:UnspecifiedMatching OMIM:614141 TRIM2 skos:exactMatch ncbigene:23321 semapv:UnspecifiedMatching -OMIM:614142 CUEDC2 skos:exactMatch hgnc:CUEDC2 semapv:UnspecifiedMatching +OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:28352 semapv:UnspecifiedMatching +OMIM:614142 CUEDC2 skos:exactMatch hgnc.symbol:CUEDC2 semapv:UnspecifiedMatching OMIM:614142 CUEDC2 skos:exactMatch ncbigene:79004 semapv:UnspecifiedMatching -OMIM:614143 IGFLR1 skos:exactMatch hgnc:IGFLR1 semapv:UnspecifiedMatching +OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:23620 semapv:UnspecifiedMatching +OMIM:614143 IGFLR1 skos:exactMatch hgnc.symbol:IGFLR1 semapv:UnspecifiedMatching OMIM:614143 IGFLR1 skos:exactMatch ncbigene:79713 semapv:UnspecifiedMatching -OMIM:614144 B9D1 skos:exactMatch hgnc:B9D1 semapv:UnspecifiedMatching +OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:24123 semapv:UnspecifiedMatching +OMIM:614144 B9D1 skos:exactMatch hgnc.symbol:B9D1 semapv:UnspecifiedMatching OMIM:614144 B9D1 skos:exactMatch ncbigene:27077 semapv:UnspecifiedMatching -OMIM:614145 CCDC8 skos:exactMatch hgnc:CCDC8 semapv:UnspecifiedMatching +OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:25367 semapv:UnspecifiedMatching +OMIM:614145 CCDC8 skos:exactMatch hgnc.symbol:CCDC8 semapv:UnspecifiedMatching OMIM:614145 CCDC8 skos:exactMatch ncbigene:83987 semapv:UnspecifiedMatching -OMIM:614146 DNAAF9 skos:exactMatch hgnc:DNAAF9 semapv:UnspecifiedMatching +OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:17721 semapv:UnspecifiedMatching +OMIM:614146 DNAAF9 skos:exactMatch hgnc.symbol:DNAAF9 semapv:UnspecifiedMatching OMIM:614146 DNAAF9 skos:exactMatch ncbigene:25943 semapv:UnspecifiedMatching -OMIM:614147 C1QTNF8 skos:exactMatch hgnc:C1QTNF8 semapv:UnspecifiedMatching +OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:31374 semapv:UnspecifiedMatching +OMIM:614147 C1QTNF8 skos:exactMatch hgnc.symbol:C1QTNF8 semapv:UnspecifiedMatching OMIM:614147 C1QTNF8 skos:exactMatch ncbigene:390664 semapv:UnspecifiedMatching -OMIM:614148 C1QTNF9B skos:exactMatch hgnc:C1QTNF9B semapv:UnspecifiedMatching +OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:34072 semapv:UnspecifiedMatching +OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:C1QTNF9B semapv:UnspecifiedMatching OMIM:614148 C1QTNF9B skos:exactMatch ncbigene:387911 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch UMLS:C2828534 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching -OMIM:614150 PKDCC skos:exactMatch hgnc:PKDCC semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:25123 semapv:UnspecifiedMatching +OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:PKDCC semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch ncbigene:91461 semapv:UnspecifiedMatching -OMIM:614151 RFWD3 skos:exactMatch hgnc:RFWD3 semapv:UnspecifiedMatching +OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:25539 semapv:UnspecifiedMatching +OMIM:614151 RFWD3 skos:exactMatch hgnc.symbol:RFWD3 semapv:UnspecifiedMatching OMIM:614151 RFWD3 skos:exactMatch ncbigene:55159 semapv:UnspecifiedMatching -OMIM:614154 NOP56 skos:exactMatch hgnc:NOP56 semapv:UnspecifiedMatching +OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:15911 semapv:UnspecifiedMatching +OMIM:614154 NOP56 skos:exactMatch hgnc.symbol:NOP56 semapv:UnspecifiedMatching OMIM:614154 NOP56 skos:exactMatch ncbigene:10528 semapv:UnspecifiedMatching -OMIM:614155 MIR1292 skos:exactMatch hgnc:MIR1292 semapv:UnspecifiedMatching +OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:35364 semapv:UnspecifiedMatching +OMIM:614155 MIR1292 skos:exactMatch hgnc.symbol:MIR1292 semapv:UnspecifiedMatching OMIM:614155 MIR1292 skos:exactMatch ncbigene:100302138 semapv:UnspecifiedMatching -OMIM:614159 ZNF644 skos:exactMatch hgnc:ZNF644 semapv:UnspecifiedMatching +OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:29222 semapv:UnspecifiedMatching +OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:ZNF644 semapv:UnspecifiedMatching OMIM:614159 ZNF644 skos:exactMatch ncbigene:84146 semapv:UnspecifiedMatching -OMIM:614161 PRDM5 skos:exactMatch hgnc:PRDM5 semapv:UnspecifiedMatching +OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:9349 semapv:UnspecifiedMatching +OMIM:614161 PRDM5 skos:exactMatch hgnc.symbol:PRDM5 semapv:UnspecifiedMatching OMIM:614161 PRDM5 skos:exactMatch ncbigene:11107 semapv:UnspecifiedMatching +OMIM:614162 immunodeficiency 31c skos:exactMatch Orphanet:391487 semapv:UnspecifiedMatching OMIM:614162 immunodeficiency 31c skos:exactMatch UMLS:C3279990 semapv:UnspecifiedMatching -OMIM:614162 immunodeficiency 31c skos:exactMatch orphanet.ordo:391487 semapv:UnspecifiedMatching OMIM:614167 myopia 21, autosomal dominant skos:exactMatch UMLS:C3279997 semapv:UnspecifiedMatching OMIM:614168 PCK1 skos:exactMatch UMLS:C0268194 semapv:UnspecifiedMatching OMIM:614168 PCK1 skos:exactMatch UMLS:C1418371 semapv:UnspecifiedMatching -OMIM:614168 PCK1 skos:exactMatch hgnc:PCK1 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:8724 semapv:UnspecifiedMatching +OMIM:614168 PCK1 skos:exactMatch hgnc.symbol:PCK1 semapv:UnspecifiedMatching OMIM:614168 PCK1 skos:exactMatch ncbigene:5105 semapv:UnspecifiedMatching -OMIM:614169 NBEAL2 skos:exactMatch hgnc:NBEAL2 semapv:UnspecifiedMatching +OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:31928 semapv:UnspecifiedMatching +OMIM:614169 NBEAL2 skos:exactMatch hgnc.symbol:NBEAL2 semapv:UnspecifiedMatching OMIM:614169 NBEAL2 skos:exactMatch ncbigene:23218 semapv:UnspecifiedMatching OMIM:614174 MEIG1 skos:exactMatch UMLS:C1537684 semapv:UnspecifiedMatching -OMIM:614174 MEIG1 skos:exactMatch hgnc:MEIG1 semapv:UnspecifiedMatching +OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:23429 semapv:UnspecifiedMatching +OMIM:614174 MEIG1 skos:exactMatch hgnc.symbol:MEIG1 semapv:UnspecifiedMatching OMIM:614174 MEIG1 skos:exactMatch ncbigene:644890 semapv:UnspecifiedMatching -OMIM:614176 ZFYVE28 skos:exactMatch hgnc:ZFYVE28 semapv:UnspecifiedMatching +OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:29334 semapv:UnspecifiedMatching +OMIM:614176 ZFYVE28 skos:exactMatch hgnc.symbol:ZFYVE28 semapv:UnspecifiedMatching OMIM:614176 ZFYVE28 skos:exactMatch ncbigene:57732 semapv:UnspecifiedMatching -OMIM:614177 EFCAB4A skos:exactMatch hgnc:CRACR2B semapv:UnspecifiedMatching +OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:28703 semapv:UnspecifiedMatching +OMIM:614177 EFCAB4A skos:exactMatch hgnc.symbol:CRACR2B semapv:UnspecifiedMatching OMIM:614177 EFCAB4A skos:exactMatch ncbigene:283229 semapv:UnspecifiedMatching -OMIM:614178 CRACR2A skos:exactMatch hgnc:CRACR2A semapv:UnspecifiedMatching +OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:28657 semapv:UnspecifiedMatching +OMIM:614178 CRACR2A skos:exactMatch hgnc.symbol:CRACR2A semapv:UnspecifiedMatching OMIM:614178 CRACR2A skos:exactMatch ncbigene:84766 semapv:UnspecifiedMatching -OMIM:614179 ISLR2 skos:exactMatch hgnc:ISLR2 semapv:UnspecifiedMatching +OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:29286 semapv:UnspecifiedMatching +OMIM:614179 ISLR2 skos:exactMatch hgnc.symbol:ISLR2 semapv:UnspecifiedMatching OMIM:614179 ISLR2 skos:exactMatch ncbigene:57611 semapv:UnspecifiedMatching -OMIM:614182 HEG1 skos:exactMatch hgnc:HEG1 semapv:UnspecifiedMatching +OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:29227 semapv:UnspecifiedMatching +OMIM:614182 HEG1 skos:exactMatch hgnc.symbol:HEG1 semapv:UnspecifiedMatching OMIM:614182 HEG1 skos:exactMatch ncbigene:57493 semapv:UnspecifiedMatching -OMIM:614183 DIS3L skos:exactMatch hgnc:DIS3L semapv:UnspecifiedMatching +OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:28698 semapv:UnspecifiedMatching +OMIM:614183 DIS3L skos:exactMatch hgnc.symbol:DIS3L semapv:UnspecifiedMatching OMIM:614183 DIS3L skos:exactMatch ncbigene:115752 semapv:UnspecifiedMatching -OMIM:614184 DIS3L2 skos:exactMatch hgnc:DIS3L2 semapv:UnspecifiedMatching +OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:28648 semapv:UnspecifiedMatching +OMIM:614184 DIS3L2 skos:exactMatch hgnc.symbol:DIS3L2 semapv:UnspecifiedMatching OMIM:614184 DIS3L2 skos:exactMatch ncbigene:129563 semapv:UnspecifiedMatching -OMIM:614189 GOLGA7B skos:exactMatch hgnc:GOLGA7B semapv:UnspecifiedMatching +OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:31668 semapv:UnspecifiedMatching +OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:GOLGA7B semapv:UnspecifiedMatching OMIM:614189 GOLGA7B skos:exactMatch ncbigene:401647 semapv:UnspecifiedMatching -OMIM:614191 DEPDC5 skos:exactMatch hgnc:DEPDC5 semapv:UnspecifiedMatching +OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:18423 semapv:UnspecifiedMatching +OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:DEPDC5 semapv:UnspecifiedMatching OMIM:614191 DEPDC5 skos:exactMatch ncbigene:9681 semapv:UnspecifiedMatching -OMIM:614194 DOCK6 skos:exactMatch hgnc:DOCK6 semapv:UnspecifiedMatching +OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:19189 semapv:UnspecifiedMatching +OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:DOCK6 semapv:UnspecifiedMatching OMIM:614194 DOCK6 skos:exactMatch ncbigene:57572 semapv:UnspecifiedMatching -OMIM:614197 MCU skos:exactMatch hgnc:MCU semapv:UnspecifiedMatching +OMIM:614197 MCU skos:exactMatch hgnc.symbol:23526 semapv:UnspecifiedMatching +OMIM:614197 MCU skos:exactMatch hgnc.symbol:MCU semapv:UnspecifiedMatching OMIM:614197 MCU skos:exactMatch ncbigene:90550 semapv:UnspecifiedMatching +OMIM:614202 rafiq syndrome skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:614202 rafiq syndrome skos:exactMatch UMLS:C3280127 semapv:UnspecifiedMatching -OMIM:614202 rafiq syndrome skos:exactMatch orphanet.ordo:88616 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching +OMIM:614204 psoriasis 14, pustular skos:exactMatch Orphanet:404546 semapv:UnspecifiedMatching OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C0392439 semapv:UnspecifiedMatching OMIM:614204 psoriasis 14, pustular skos:exactMatch UMLS:C4759670 semapv:UnspecifiedMatching -OMIM:614204 psoriasis 14, pustular skos:exactMatch orphanet.ordo:247353 semapv:UnspecifiedMatching -OMIM:614204 psoriasis 14, pustular skos:exactMatch orphanet.ordo:404546 semapv:UnspecifiedMatching -OMIM:614206 CHTOP skos:exactMatch hgnc:CHTOP semapv:UnspecifiedMatching +OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:24511 semapv:UnspecifiedMatching +OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:CHTOP semapv:UnspecifiedMatching OMIM:614206 CHTOP skos:exactMatch ncbigene:26097 semapv:UnspecifiedMatching -OMIM:614214 KLHL6 skos:exactMatch hgnc:KLHL6 semapv:UnspecifiedMatching +OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:18653 semapv:UnspecifiedMatching +OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:KLHL6 semapv:UnspecifiedMatching OMIM:614214 KLHL6 skos:exactMatch ncbigene:89857 semapv:UnspecifiedMatching OMIM:614215 ASCC1 skos:exactMatch UMLS:C1428365 semapv:UnspecifiedMatching OMIM:614215 ASCC1 skos:exactMatch UMLS:C3277074 semapv:UnspecifiedMatching OMIM:614215 ASCC1 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching -OMIM:614215 ASCC1 skos:exactMatch hgnc:ASCC1 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:24268 semapv:UnspecifiedMatching +OMIM:614215 ASCC1 skos:exactMatch hgnc.symbol:ASCC1 semapv:UnspecifiedMatching OMIM:614215 ASCC1 skos:exactMatch ncbigene:51008 semapv:UnspecifiedMatching -OMIM:614216 ASCC2 skos:exactMatch hgnc:ASCC2 semapv:UnspecifiedMatching +OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:24103 semapv:UnspecifiedMatching +OMIM:614216 ASCC2 skos:exactMatch hgnc.symbol:ASCC2 semapv:UnspecifiedMatching OMIM:614216 ASCC2 skos:exactMatch ncbigene:84164 semapv:UnspecifiedMatching -OMIM:614217 ASCC3 skos:exactMatch hgnc:ASCC3 semapv:UnspecifiedMatching +OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:18697 semapv:UnspecifiedMatching +OMIM:614217 ASCC3 skos:exactMatch hgnc.symbol:ASCC3 semapv:UnspecifiedMatching OMIM:614217 ASCC3 skos:exactMatch ncbigene:10973 semapv:UnspecifiedMatching -OMIM:614218 WDR81 skos:exactMatch hgnc:WDR81 semapv:UnspecifiedMatching +OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:26600 semapv:UnspecifiedMatching +OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:WDR81 semapv:UnspecifiedMatching OMIM:614218 WDR81 skos:exactMatch ncbigene:124997 semapv:UnspecifiedMatching +OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 semapv:UnspecifiedMatching OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch UMLS:C3280231 semapv:UnspecifiedMatching -OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch orphanet.ordo:284160 semapv:UnspecifiedMatching -OMIM:614232 HSD11B2 skos:exactMatch hgnc:HSD11B2 semapv:UnspecifiedMatching +OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:5209 semapv:UnspecifiedMatching +OMIM:614232 HSD11B2 skos:exactMatch hgnc.symbol:HSD11B2 semapv:UnspecifiedMatching OMIM:614232 HSD11B2 skos:exactMatch ncbigene:3291 semapv:UnspecifiedMatching OMIM:614234 PIFO skos:exactMatch UMLS:C1823708 semapv:UnspecifiedMatching -OMIM:614234 PIFO skos:exactMatch hgnc:CIMAP3 semapv:UnspecifiedMatching +OMIM:614234 PIFO skos:exactMatch hgnc.symbol:CIMAP3 semapv:UnspecifiedMatching OMIM:614234 PIFO skos:exactMatch ncbigene:128344 semapv:UnspecifiedMatching -OMIM:614235 PDZD8 skos:exactMatch hgnc:PDZD8 semapv:UnspecifiedMatching +OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:26974 semapv:UnspecifiedMatching +OMIM:614235 PDZD8 skos:exactMatch hgnc.symbol:PDZD8 semapv:UnspecifiedMatching OMIM:614235 PDZD8 skos:exactMatch ncbigene:118987 semapv:UnspecifiedMatching -OMIM:614236 SLC38A7 skos:exactMatch hgnc:SLC38A7 semapv:UnspecifiedMatching +OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:25582 semapv:UnspecifiedMatching +OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:SLC38A7 semapv:UnspecifiedMatching OMIM:614236 SLC38A7 skos:exactMatch ncbigene:55238 semapv:UnspecifiedMatching -OMIM:614239 PHETA1 skos:exactMatch hgnc:PHETA1 semapv:UnspecifiedMatching +OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:26509 semapv:UnspecifiedMatching +OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:PHETA1 semapv:UnspecifiedMatching OMIM:614239 PHETA1 skos:exactMatch ncbigene:144717 semapv:UnspecifiedMatching -OMIM:614240 PHETA2 skos:exactMatch hgnc:PHETA2 semapv:UnspecifiedMatching +OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:27161 semapv:UnspecifiedMatching +OMIM:614240 PHETA2 skos:exactMatch hgnc.symbol:PHETA2 semapv:UnspecifiedMatching OMIM:614240 PHETA2 skos:exactMatch ncbigene:150368 semapv:UnspecifiedMatching -OMIM:614241 LCLAT1 skos:exactMatch hgnc:LCLAT1 semapv:UnspecifiedMatching +OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:26756 semapv:UnspecifiedMatching +OMIM:614241 LCLAT1 skos:exactMatch hgnc.symbol:LCLAT1 semapv:UnspecifiedMatching OMIM:614241 LCLAT1 skos:exactMatch ncbigene:253558 semapv:UnspecifiedMatching -OMIM:614242 SLC16A9 skos:exactMatch hgnc:SLC16A9 semapv:UnspecifiedMatching +OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:23520 semapv:UnspecifiedMatching +OMIM:614242 SLC16A9 skos:exactMatch hgnc.symbol:SLC16A9 semapv:UnspecifiedMatching OMIM:614242 SLC16A9 skos:exactMatch ncbigene:220963 semapv:UnspecifiedMatching -OMIM:614243 OPLAH skos:exactMatch hgnc:OPLAH semapv:UnspecifiedMatching +OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:8149 semapv:UnspecifiedMatching +OMIM:614243 OPLAH skos:exactMatch hgnc.symbol:OPLAH semapv:UnspecifiedMatching OMIM:614243 OPLAH skos:exactMatch ncbigene:26873 semapv:UnspecifiedMatching -OMIM:614244 PDXDC1 skos:exactMatch hgnc:PDXDC1 semapv:UnspecifiedMatching +OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:28995 semapv:UnspecifiedMatching +OMIM:614244 PDXDC1 skos:exactMatch hgnc.symbol:PDXDC1 semapv:UnspecifiedMatching OMIM:614244 PDXDC1 skos:exactMatch ncbigene:23042 semapv:UnspecifiedMatching -OMIM:614245 ACSF3 skos:exactMatch hgnc:ACSF3 semapv:UnspecifiedMatching +OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:27288 semapv:UnspecifiedMatching +OMIM:614245 ACSF3 skos:exactMatch hgnc.symbol:ACSF3 semapv:UnspecifiedMatching OMIM:614245 ACSF3 skos:exactMatch ncbigene:197322 semapv:UnspecifiedMatching -OMIM:614246 NAA60 skos:exactMatch hgnc:NAA60 semapv:UnspecifiedMatching +OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:25875 semapv:UnspecifiedMatching +OMIM:614246 NAA60 skos:exactMatch hgnc.symbol:NAA60 semapv:UnspecifiedMatching OMIM:614246 NAA60 skos:exactMatch ncbigene:79903 semapv:UnspecifiedMatching -OMIM:614247 MIR519D skos:exactMatch hgnc:MIR519D semapv:UnspecifiedMatching +OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:32112 semapv:UnspecifiedMatching +OMIM:614247 MIR519D skos:exactMatch hgnc.symbol:MIR519D semapv:UnspecifiedMatching OMIM:614247 MIR519D skos:exactMatch ncbigene:574480 semapv:UnspecifiedMatching -OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc:PEAK1 semapv:UnspecifiedMatching +OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:29431 semapv:UnspecifiedMatching +OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch hgnc.symbol:PEAK1 semapv:UnspecifiedMatching OMIM:614248 pseudopodium-enriched atypical kinase 1 skos:exactMatch ncbigene:79834 semapv:UnspecifiedMatching +OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch UMLS:C3280282 semapv:UnspecifiedMatching -OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch orphanet.ordo:178469 semapv:UnspecifiedMatching +OMIM:614255 nescav syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:614255 nescav syndrome skos:exactMatch UMLS:C5393830 semapv:UnspecifiedMatching -OMIM:614255 nescav syndrome skos:exactMatch orphanet.ordo:178469 semapv:UnspecifiedMatching -OMIM:614258 POLR3A skos:exactMatch hgnc:POLR3A semapv:UnspecifiedMatching +OMIM:614258 POLR3A skos:exactMatch hgnc.symbol:30074 semapv:UnspecifiedMatching +OMIM:614258 POLR3A skos:exactMatch hgnc.symbol:POLR3A semapv:UnspecifiedMatching OMIM:614258 POLR3A skos:exactMatch ncbigene:11128 semapv:UnspecifiedMatching -OMIM:614259 CFAP57 skos:exactMatch hgnc:CFAP57 semapv:UnspecifiedMatching +OMIM:614259 CFAP57 skos:exactMatch hgnc.symbol:26485 semapv:UnspecifiedMatching +OMIM:614259 CFAP57 skos:exactMatch hgnc.symbol:CFAP57 semapv:UnspecifiedMatching OMIM:614259 CFAP57 skos:exactMatch ncbigene:149465 semapv:UnspecifiedMatching OMIM:614260 C9ORF72 skos:exactMatch UMLS:C1428691 semapv:UnspecifiedMatching OMIM:614260 C9ORF72 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching -OMIM:614260 C9ORF72 skos:exactMatch hgnc:C9orf72 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch hgnc.symbol:28337 semapv:UnspecifiedMatching +OMIM:614260 C9ORF72 skos:exactMatch hgnc.symbol:C9orf72 semapv:UnspecifiedMatching OMIM:614260 C9ORF72 skos:exactMatch ncbigene:203228 semapv:UnspecifiedMatching +OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 semapv:UnspecifiedMatching OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch UMLS:C3280296 semapv:UnspecifiedMatching -OMIM:614261 microcephaly-capillary malformation syndrome skos:exactMatch orphanet.ordo:294016 semapv:UnspecifiedMatching -OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc:BACE1-AS semapv:UnspecifiedMatching +OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc.symbol:37125 semapv:UnspecifiedMatching +OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch hgnc.symbol:BACE1-AS semapv:UnspecifiedMatching OMIM:614263 bace1 antisense rna: bace1as skos:exactMatch ncbigene:100379571 semapv:UnspecifiedMatching -OMIM:614264 ARHGAP30 skos:exactMatch hgnc:ARHGAP30 semapv:UnspecifiedMatching +OMIM:614264 ARHGAP30 skos:exactMatch hgnc.symbol:27414 semapv:UnspecifiedMatching +OMIM:614264 ARHGAP30 skos:exactMatch hgnc.symbol:ARHGAP30 semapv:UnspecifiedMatching OMIM:614264 ARHGAP30 skos:exactMatch ncbigene:257106 semapv:UnspecifiedMatching -OMIM:614267 ACOT6 skos:exactMatch hgnc:ACOT6 semapv:UnspecifiedMatching +OMIM:614267 ACOT6 skos:exactMatch hgnc.symbol:33159 semapv:UnspecifiedMatching +OMIM:614267 ACOT6 skos:exactMatch hgnc.symbol:ACOT6 semapv:UnspecifiedMatching OMIM:614267 ACOT6 skos:exactMatch ncbigene:641372 semapv:UnspecifiedMatching -OMIM:614268 ADGRF4 skos:exactMatch hgnc:ADGRF4 semapv:UnspecifiedMatching +OMIM:614268 ADGRF4 skos:exactMatch hgnc.symbol:19011 semapv:UnspecifiedMatching +OMIM:614268 ADGRF4 skos:exactMatch hgnc.symbol:ADGRF4 semapv:UnspecifiedMatching OMIM:614268 ADGRF4 skos:exactMatch ncbigene:221393 semapv:UnspecifiedMatching -OMIM:614269 GPR153 skos:exactMatch hgnc:GPR153 semapv:UnspecifiedMatching +OMIM:614269 GPR153 skos:exactMatch hgnc.symbol:23618 semapv:UnspecifiedMatching +OMIM:614269 GPR153 skos:exactMatch hgnc.symbol:GPR153 semapv:UnspecifiedMatching OMIM:614269 GPR153 skos:exactMatch ncbigene:387509 semapv:UnspecifiedMatching OMIM:614270 CFAP65 skos:exactMatch UMLS:C1824636 semapv:UnspecifiedMatching OMIM:614270 CFAP65 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching -OMIM:614270 CFAP65 skos:exactMatch hgnc:CFAP65 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:25325 semapv:UnspecifiedMatching +OMIM:614270 CFAP65 skos:exactMatch hgnc.symbol:CFAP65 semapv:UnspecifiedMatching OMIM:614270 CFAP65 skos:exactMatch ncbigene:255101 semapv:UnspecifiedMatching -OMIM:614271 CCDC137 skos:exactMatch hgnc:CCDC137 semapv:UnspecifiedMatching +OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:33451 semapv:UnspecifiedMatching +OMIM:614271 CCDC137 skos:exactMatch hgnc.symbol:CCDC137 semapv:UnspecifiedMatching OMIM:614271 CCDC137 skos:exactMatch ncbigene:339230 semapv:UnspecifiedMatching -OMIM:614272 FASTKD5 skos:exactMatch hgnc:FASTKD5 semapv:UnspecifiedMatching +OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:25790 semapv:UnspecifiedMatching +OMIM:614272 FASTKD5 skos:exactMatch hgnc.symbol:FASTKD5 semapv:UnspecifiedMatching OMIM:614272 FASTKD5 skos:exactMatch ncbigene:60493 semapv:UnspecifiedMatching -OMIM:614273 OR4C46 skos:exactMatch hgnc:OR4C46 semapv:UnspecifiedMatching +OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:31271 semapv:UnspecifiedMatching +OMIM:614273 OR4C46 skos:exactMatch hgnc.symbol:OR4C46 semapv:UnspecifiedMatching OMIM:614273 OR4C46 skos:exactMatch ncbigene:119749 semapv:UnspecifiedMatching -OMIM:614274 SBNO1 skos:exactMatch hgnc:SBNO1 semapv:UnspecifiedMatching +OMIM:614274 SBNO1 skos:exactMatch hgnc.symbol:22973 semapv:UnspecifiedMatching +OMIM:614274 SBNO1 skos:exactMatch hgnc.symbol:SBNO1 semapv:UnspecifiedMatching OMIM:614274 SBNO1 skos:exactMatch ncbigene:55206 semapv:UnspecifiedMatching -OMIM:614275 ZNF565 skos:exactMatch hgnc:ZNF565 semapv:UnspecifiedMatching +OMIM:614275 ZNF565 skos:exactMatch hgnc.symbol:26726 semapv:UnspecifiedMatching +OMIM:614275 ZNF565 skos:exactMatch hgnc.symbol:ZNF565 semapv:UnspecifiedMatching OMIM:614275 ZNF565 skos:exactMatch ncbigene:147929 semapv:UnspecifiedMatching -OMIM:614276 PLCL2 skos:exactMatch hgnc:PLCL2 semapv:UnspecifiedMatching +OMIM:614276 PLCL2 skos:exactMatch hgnc.symbol:9064 semapv:UnspecifiedMatching +OMIM:614276 PLCL2 skos:exactMatch hgnc.symbol:PLCL2 semapv:UnspecifiedMatching OMIM:614276 PLCL2 skos:exactMatch ncbigene:23228 semapv:UnspecifiedMatching -OMIM:614277 UBE2W skos:exactMatch hgnc:UBE2W semapv:UnspecifiedMatching +OMIM:614277 UBE2W skos:exactMatch hgnc.symbol:25616 semapv:UnspecifiedMatching +OMIM:614277 UBE2W skos:exactMatch hgnc.symbol:UBE2W semapv:UnspecifiedMatching OMIM:614277 UBE2W skos:exactMatch ncbigene:55284 semapv:UnspecifiedMatching +OMIM:614279 46,xy sex reversal 8 skos:exactMatch Orphanet:443087 semapv:UnspecifiedMatching OMIM:614279 46,xy sex reversal 8 skos:exactMatch UMLS:C1839840 semapv:UnspecifiedMatching -OMIM:614279 46,xy sex reversal 8 skos:exactMatch orphanet.ordo:443087 semapv:UnspecifiedMatching -OMIM:614281 ESAM skos:exactMatch hgnc:ESAM semapv:UnspecifiedMatching +OMIM:614281 ESAM skos:exactMatch hgnc.symbol:17474 semapv:UnspecifiedMatching +OMIM:614281 ESAM skos:exactMatch hgnc.symbol:ESAM semapv:UnspecifiedMatching OMIM:614281 ESAM skos:exactMatch ncbigene:90952 semapv:UnspecifiedMatching -OMIM:614282 SDF4 skos:exactMatch hgnc:SDF4 semapv:UnspecifiedMatching +OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:24188 semapv:UnspecifiedMatching +OMIM:614282 SDF4 skos:exactMatch hgnc.symbol:SDF4 semapv:UnspecifiedMatching OMIM:614282 SDF4 skos:exactMatch ncbigene:51150 semapv:UnspecifiedMatching -OMIM:614283 GLCCI1 skos:exactMatch hgnc:GLCCI1 semapv:UnspecifiedMatching +OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:18713 semapv:UnspecifiedMatching +OMIM:614283 GLCCI1 skos:exactMatch hgnc.symbol:GLCCI1 semapv:UnspecifiedMatching OMIM:614283 GLCCI1 skos:exactMatch ncbigene:113263 semapv:UnspecifiedMatching -OMIM:614285 C1QTNF9 skos:exactMatch hgnc:C1QTNF9 semapv:UnspecifiedMatching +OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:28732 semapv:UnspecifiedMatching +OMIM:614285 C1QTNF9 skos:exactMatch hgnc.symbol:C1QTNF9 semapv:UnspecifiedMatching OMIM:614285 C1QTNF9 skos:exactMatch ncbigene:338872 semapv:UnspecifiedMatching +OMIM:614286 myelodysplastic syndrome skos:exactMatch Orphanet:52688 semapv:UnspecifiedMatching OMIM:614286 myelodysplastic syndrome skos:exactMatch UMLS:C3463824 semapv:UnspecifiedMatching -OMIM:614286 myelodysplastic syndrome skos:exactMatch orphanet.ordo:52688 semapv:UnspecifiedMatching -OMIM:614287 OFCC1 skos:exactMatch hgnc:OFCC1 semapv:UnspecifiedMatching +OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:21017 semapv:UnspecifiedMatching +OMIM:614287 OFCC1 skos:exactMatch hgnc.symbol:OFCC1 semapv:UnspecifiedMatching OMIM:614287 OFCC1 skos:exactMatch ncbigene:266553 semapv:UnspecifiedMatching -OMIM:614288 ACAD11 skos:exactMatch hgnc:ACAD11 semapv:UnspecifiedMatching +OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:30211 semapv:UnspecifiedMatching +OMIM:614288 ACAD11 skos:exactMatch hgnc.symbol:ACAD11 semapv:UnspecifiedMatching OMIM:614288 ACAD11 skos:exactMatch ncbigene:84129 semapv:UnspecifiedMatching -OMIM:614289 SEL1L2 skos:exactMatch hgnc:SEL1L2 semapv:UnspecifiedMatching +OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:15897 semapv:UnspecifiedMatching +OMIM:614289 SEL1L2 skos:exactMatch hgnc.symbol:SEL1L2 semapv:UnspecifiedMatching OMIM:614289 SEL1L2 skos:exactMatch ncbigene:80343 semapv:UnspecifiedMatching -OMIM:614295 BICC1 skos:exactMatch hgnc:BICC1 semapv:UnspecifiedMatching +OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:19351 semapv:UnspecifiedMatching +OMIM:614295 BICC1 skos:exactMatch hgnc.symbol:BICC1 semapv:UnspecifiedMatching OMIM:614295 BICC1 skos:exactMatch ncbigene:80114 semapv:UnspecifiedMatching -OMIM:614297 C19ORF12 skos:exactMatch hgnc:C19orf12 semapv:UnspecifiedMatching +OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:25443 semapv:UnspecifiedMatching +OMIM:614297 C19ORF12 skos:exactMatch hgnc.symbol:C19orf12 semapv:UnspecifiedMatching OMIM:614297 C19ORF12 skos:exactMatch ncbigene:83636 semapv:UnspecifiedMatching +OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch Orphanet:401874 semapv:UnspecifiedMatching OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch UMLS:C3280378 semapv:UnspecifiedMatching -OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia skos:exactMatch orphanet.ordo:401874 semapv:UnspecifiedMatching -OMIM:614301 ATXN1L skos:exactMatch hgnc:ATXN1L semapv:UnspecifiedMatching +OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:33279 semapv:UnspecifiedMatching +OMIM:614301 ATXN1L skos:exactMatch hgnc.symbol:ATXN1L semapv:UnspecifiedMatching OMIM:614301 ATXN1L skos:exactMatch ncbigene:342371 semapv:UnspecifiedMatching -OMIM:614304 MIR137 skos:exactMatch hgnc:MIR137 semapv:UnspecifiedMatching +OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:31523 semapv:UnspecifiedMatching +OMIM:614304 MIR137 skos:exactMatch hgnc.symbol:MIR137 semapv:UnspecifiedMatching OMIM:614304 MIR137 skos:exactMatch ncbigene:406928 semapv:UnspecifiedMatching -OMIM:614308 FTCDNL1 skos:exactMatch hgnc:FTCDNL1 semapv:UnspecifiedMatching +OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:48661 semapv:UnspecifiedMatching +OMIM:614308 FTCDNL1 skos:exactMatch hgnc.symbol:FTCDNL1 semapv:UnspecifiedMatching OMIM:614308 FTCDNL1 skos:exactMatch ncbigene:348751 semapv:UnspecifiedMatching -OMIM:614309 TRMT44 skos:exactMatch hgnc:TRMT44 semapv:UnspecifiedMatching +OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:26653 semapv:UnspecifiedMatching +OMIM:614309 TRMT44 skos:exactMatch hgnc.symbol:TRMT44 semapv:UnspecifiedMatching OMIM:614309 TRMT44 skos:exactMatch ncbigene:152992 semapv:UnspecifiedMatching -OMIM:614310 CEP70 skos:exactMatch hgnc:CEP70 semapv:UnspecifiedMatching +OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:29972 semapv:UnspecifiedMatching +OMIM:614310 CEP70 skos:exactMatch hgnc.symbol:CEP70 semapv:UnspecifiedMatching OMIM:614310 CEP70 skos:exactMatch ncbigene:80321 semapv:UnspecifiedMatching -OMIM:614311 SYNDIG1 skos:exactMatch hgnc:SYNDIG1 semapv:UnspecifiedMatching +OMIM:614311 SYNDIG1 skos:exactMatch hgnc.symbol:15885 semapv:UnspecifiedMatching +OMIM:614311 SYNDIG1 skos:exactMatch hgnc.symbol:SYNDIG1 semapv:UnspecifiedMatching OMIM:614311 SYNDIG1 skos:exactMatch ncbigene:79953 semapv:UnspecifiedMatching -OMIM:614312 ZMYND15 skos:exactMatch hgnc:ZMYND15 semapv:UnspecifiedMatching +OMIM:614312 ZMYND15 skos:exactMatch hgnc.symbol:20997 semapv:UnspecifiedMatching +OMIM:614312 ZMYND15 skos:exactMatch hgnc.symbol:ZMYND15 semapv:UnspecifiedMatching OMIM:614312 ZMYND15 skos:exactMatch ncbigene:84225 semapv:UnspecifiedMatching -OMIM:614313 ACOT1 skos:exactMatch hgnc:ACOT1 semapv:UnspecifiedMatching +OMIM:614313 ACOT1 skos:exactMatch hgnc.symbol:33128 semapv:UnspecifiedMatching +OMIM:614313 ACOT1 skos:exactMatch hgnc.symbol:ACOT1 semapv:UnspecifiedMatching OMIM:614313 ACOT1 skos:exactMatch ncbigene:641371 semapv:UnspecifiedMatching -OMIM:614314 ACOT4 skos:exactMatch hgnc:ACOT4 semapv:UnspecifiedMatching +OMIM:614314 ACOT4 skos:exactMatch hgnc.symbol:19748 semapv:UnspecifiedMatching +OMIM:614314 ACOT4 skos:exactMatch hgnc.symbol:ACOT4 semapv:UnspecifiedMatching OMIM:614314 ACOT4 skos:exactMatch ncbigene:122970 semapv:UnspecifiedMatching -OMIM:614315 ACOT12 skos:exactMatch hgnc:ACOT12 semapv:UnspecifiedMatching +OMIM:614315 ACOT12 skos:exactMatch hgnc.symbol:24436 semapv:UnspecifiedMatching +OMIM:614315 ACOT12 skos:exactMatch hgnc.symbol:ACOT12 semapv:UnspecifiedMatching OMIM:614315 ACOT12 skos:exactMatch ncbigene:134526 semapv:UnspecifiedMatching -OMIM:614316 VTI1A skos:exactMatch hgnc:VTI1A semapv:UnspecifiedMatching +OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:17792 semapv:UnspecifiedMatching +OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:VTI1A semapv:UnspecifiedMatching OMIM:614316 VTI1A skos:exactMatch ncbigene:143187 semapv:UnspecifiedMatching +OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch Orphanet:284282 semapv:UnspecifiedMatching OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch UMLS:C3280452 semapv:UnspecifiedMatching -OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch orphanet.ordo:284282 semapv:UnspecifiedMatching +OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch Orphanet:79150 semapv:UnspecifiedMatching OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C0263579 semapv:UnspecifiedMatching OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch UMLS:C1304501 semapv:UnspecifiedMatching -OMIM:614323 nevoid hypermelanosis, linear and whorled skos:exactMatch orphanet.ordo:79150 semapv:UnspecifiedMatching -OMIM:614330 C1QL2 skos:exactMatch hgnc:C1QL2 semapv:UnspecifiedMatching +OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:24181 semapv:UnspecifiedMatching +OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:C1QL2 semapv:UnspecifiedMatching OMIM:614330 C1QL2 skos:exactMatch ncbigene:165257 semapv:UnspecifiedMatching -OMIM:614334 DNAJC13 skos:exactMatch hgnc:DNAJC13 semapv:UnspecifiedMatching +OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:30343 semapv:UnspecifiedMatching +OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:DNAJC13 semapv:UnspecifiedMatching OMIM:614334 DNAJC13 skos:exactMatch ncbigene:23317 semapv:UnspecifiedMatching -OMIM:614336 PAM16 skos:exactMatch hgnc:PAM16 semapv:UnspecifiedMatching +OMIM:614336 PAM16 skos:exactMatch hgnc.symbol:29679 semapv:UnspecifiedMatching +OMIM:614336 PAM16 skos:exactMatch hgnc.symbol:PAM16 semapv:UnspecifiedMatching OMIM:614336 PAM16 skos:exactMatch ncbigene:51025 semapv:UnspecifiedMatching -OMIM:614348 ADTRP skos:exactMatch hgnc:ADTRP semapv:UnspecifiedMatching +OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:21214 semapv:UnspecifiedMatching +OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:ADTRP semapv:UnspecifiedMatching OMIM:614348 ADTRP skos:exactMatch ncbigene:84830 semapv:UnspecifiedMatching -OMIM:614349 ZNF638 skos:exactMatch hgnc:ZNF638 semapv:UnspecifiedMatching +OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:17894 semapv:UnspecifiedMatching +OMIM:614349 ZNF638 skos:exactMatch hgnc.symbol:ZNF638 semapv:UnspecifiedMatching OMIM:614349 ZNF638 skos:exactMatch ncbigene:27332 semapv:UnspecifiedMatching OMIM:614351 NUP93 skos:exactMatch UMLS:C1428756 semapv:UnspecifiedMatching OMIM:614351 NUP93 skos:exactMatch UMLS:C4225166 semapv:UnspecifiedMatching -OMIM:614351 NUP93 skos:exactMatch hgnc:NUP93 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:28958 semapv:UnspecifiedMatching +OMIM:614351 NUP93 skos:exactMatch hgnc.symbol:NUP93 semapv:UnspecifiedMatching OMIM:614351 NUP93 skos:exactMatch ncbigene:9688 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch UMLS:C1425685 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching -OMIM:614352 NUP205 skos:exactMatch hgnc:NUP205 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:18658 semapv:UnspecifiedMatching +OMIM:614352 NUP205 skos:exactMatch hgnc.symbol:NUP205 semapv:UnspecifiedMatching OMIM:614352 NUP205 skos:exactMatch ncbigene:23165 semapv:UnspecifiedMatching -OMIM:614353 HAS2AS1 skos:exactMatch hgnc:HAS2-AS1 semapv:UnspecifiedMatching +OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:34340 semapv:UnspecifiedMatching +OMIM:614353 HAS2AS1 skos:exactMatch hgnc.symbol:HAS2-AS1 semapv:UnspecifiedMatching OMIM:614353 HAS2AS1 skos:exactMatch ncbigene:594842 semapv:UnspecifiedMatching OMIM:614354 pro2268 gene skos:exactMatch ncbigene:55390 semapv:UnspecifiedMatching -OMIM:614355 ACSS1 skos:exactMatch hgnc:ACSS1 semapv:UnspecifiedMatching +OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:16091 semapv:UnspecifiedMatching +OMIM:614355 ACSS1 skos:exactMatch hgnc.symbol:ACSS1 semapv:UnspecifiedMatching OMIM:614355 ACSS1 skos:exactMatch ncbigene:84532 semapv:UnspecifiedMatching -OMIM:614356 ACSS3 skos:exactMatch hgnc:ACSS3 semapv:UnspecifiedMatching +OMIM:614356 ACSS3 skos:exactMatch hgnc.symbol:24723 semapv:UnspecifiedMatching +OMIM:614356 ACSS3 skos:exactMatch hgnc.symbol:ACSS3 semapv:UnspecifiedMatching OMIM:614356 ACSS3 skos:exactMatch ncbigene:79611 semapv:UnspecifiedMatching -OMIM:614357 ACSM1 skos:exactMatch hgnc:ACSM1 semapv:UnspecifiedMatching +OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:18049 semapv:UnspecifiedMatching +OMIM:614357 ACSM1 skos:exactMatch hgnc.symbol:ACSM1 semapv:UnspecifiedMatching OMIM:614357 ACSM1 skos:exactMatch ncbigene:116285 semapv:UnspecifiedMatching -OMIM:614358 ACSM2A skos:exactMatch hgnc:ACSM2A semapv:UnspecifiedMatching +OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:32017 semapv:UnspecifiedMatching +OMIM:614358 ACSM2A skos:exactMatch hgnc.symbol:ACSM2A semapv:UnspecifiedMatching OMIM:614358 ACSM2A skos:exactMatch ncbigene:123876 semapv:UnspecifiedMatching -OMIM:614359 ACSM2B skos:exactMatch hgnc:ACSM2B semapv:UnspecifiedMatching +OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:30931 semapv:UnspecifiedMatching +OMIM:614359 ACSM2B skos:exactMatch hgnc.symbol:ACSM2B semapv:UnspecifiedMatching OMIM:614359 ACSM2B skos:exactMatch ncbigene:348158 semapv:UnspecifiedMatching -OMIM:614360 ACSM4 skos:exactMatch hgnc:ACSM4 semapv:UnspecifiedMatching +OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:32016 semapv:UnspecifiedMatching +OMIM:614360 ACSM4 skos:exactMatch hgnc.symbol:ACSM4 semapv:UnspecifiedMatching OMIM:614360 ACSM4 skos:exactMatch ncbigene:341392 semapv:UnspecifiedMatching -OMIM:614361 ACSM5 skos:exactMatch hgnc:ACSM5 semapv:UnspecifiedMatching +OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:26060 semapv:UnspecifiedMatching +OMIM:614361 ACSM5 skos:exactMatch hgnc.symbol:ACSM5 semapv:UnspecifiedMatching OMIM:614361 ACSM5 skos:exactMatch ncbigene:54988 semapv:UnspecifiedMatching -OMIM:614362 ACSBG1 skos:exactMatch hgnc:ACSBG1 semapv:UnspecifiedMatching +OMIM:614362 ACSBG1 skos:exactMatch hgnc.symbol:29567 semapv:UnspecifiedMatching +OMIM:614362 ACSBG1 skos:exactMatch hgnc.symbol:ACSBG1 semapv:UnspecifiedMatching OMIM:614362 ACSBG1 skos:exactMatch ncbigene:23205 semapv:UnspecifiedMatching -OMIM:614363 ACSBG2 skos:exactMatch hgnc:ACSBG2 semapv:UnspecifiedMatching +OMIM:614363 ACSBG2 skos:exactMatch hgnc.symbol:24174 semapv:UnspecifiedMatching +OMIM:614363 ACSBG2 skos:exactMatch hgnc.symbol:ACSBG2 semapv:UnspecifiedMatching OMIM:614363 ACSBG2 skos:exactMatch ncbigene:81616 semapv:UnspecifiedMatching -OMIM:614364 AACS skos:exactMatch hgnc:AACS semapv:UnspecifiedMatching +OMIM:614364 AACS skos:exactMatch hgnc.symbol:21298 semapv:UnspecifiedMatching +OMIM:614364 AACS skos:exactMatch hgnc.symbol:AACS semapv:UnspecifiedMatching OMIM:614364 AACS skos:exactMatch ncbigene:65985 semapv:UnspecifiedMatching -OMIM:614365 AASDH skos:exactMatch hgnc:AASDH semapv:UnspecifiedMatching +OMIM:614365 AASDH skos:exactMatch hgnc.symbol:23993 semapv:UnspecifiedMatching +OMIM:614365 AASDH skos:exactMatch hgnc.symbol:AASDH semapv:UnspecifiedMatching OMIM:614365 AASDH skos:exactMatch ncbigene:132949 semapv:UnspecifiedMatching -OMIM:614366 POLR3B skos:exactMatch hgnc:POLR3B semapv:UnspecifiedMatching +OMIM:614366 POLR3B skos:exactMatch hgnc.symbol:30348 semapv:UnspecifiedMatching +OMIM:614366 POLR3B skos:exactMatch hgnc.symbol:POLR3B semapv:UnspecifiedMatching OMIM:614366 POLR3B skos:exactMatch ncbigene:55703 semapv:UnspecifiedMatching -OMIM:614367 AP5B1 skos:exactMatch hgnc:AP5B1 semapv:UnspecifiedMatching +OMIM:614367 AP5B1 skos:exactMatch hgnc.symbol:25104 semapv:UnspecifiedMatching +OMIM:614367 AP5B1 skos:exactMatch hgnc.symbol:AP5B1 semapv:UnspecifiedMatching OMIM:614367 AP5B1 skos:exactMatch ncbigene:91056 semapv:UnspecifiedMatching -OMIM:614368 AP5M1 skos:exactMatch hgnc:AP5M1 semapv:UnspecifiedMatching +OMIM:614368 AP5M1 skos:exactMatch hgnc.symbol:20192 semapv:UnspecifiedMatching +OMIM:614368 AP5M1 skos:exactMatch hgnc.symbol:AP5M1 semapv:UnspecifiedMatching OMIM:614368 AP5M1 skos:exactMatch ncbigene:55745 semapv:UnspecifiedMatching -OMIM:614384 MIR492 skos:exactMatch hgnc:MIR492 semapv:UnspecifiedMatching +OMIM:614384 MIR492 skos:exactMatch hgnc.symbol:32081 semapv:UnspecifiedMatching +OMIM:614384 MIR492 skos:exactMatch hgnc.symbol:MIR492 semapv:UnspecifiedMatching OMIM:614384 MIR492 skos:exactMatch ncbigene:574449 semapv:UnspecifiedMatching -OMIM:614386 PRRT2 skos:exactMatch hgnc:PRRT2 semapv:UnspecifiedMatching +OMIM:614386 PRRT2 skos:exactMatch hgnc.symbol:30500 semapv:UnspecifiedMatching +OMIM:614386 PRRT2 skos:exactMatch hgnc.symbol:PRRT2 semapv:UnspecifiedMatching OMIM:614386 PRRT2 skos:exactMatch ncbigene:112476 semapv:UnspecifiedMatching -OMIM:614387 ZNF526 skos:exactMatch hgnc:ZNF526 semapv:UnspecifiedMatching +OMIM:614387 ZNF526 skos:exactMatch hgnc.symbol:29415 semapv:UnspecifiedMatching +OMIM:614387 ZNF526 skos:exactMatch hgnc.symbol:ZNF526 semapv:UnspecifiedMatching OMIM:614387 ZNF526 skos:exactMatch ncbigene:116115 semapv:UnspecifiedMatching +OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch Orphanet:330050 semapv:UnspecifiedMatching OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch UMLS:C3280660 semapv:UnspecifiedMatching -OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch orphanet.ordo:330050 semapv:UnspecifiedMatching -OMIM:614392 TDRD3 skos:exactMatch hgnc:TDRD3 semapv:UnspecifiedMatching +OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:20612 semapv:UnspecifiedMatching +OMIM:614392 TDRD3 skos:exactMatch hgnc.symbol:TDRD3 semapv:UnspecifiedMatching OMIM:614392 TDRD3 skos:exactMatch ncbigene:81550 semapv:UnspecifiedMatching -OMIM:614393 OARD1 skos:exactMatch hgnc:OARD1 semapv:UnspecifiedMatching +OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:21257 semapv:UnspecifiedMatching +OMIM:614393 OARD1 skos:exactMatch hgnc.symbol:OARD1 semapv:UnspecifiedMatching OMIM:614393 OARD1 skos:exactMatch ncbigene:221443 semapv:UnspecifiedMatching -OMIM:614394 IFT20 skos:exactMatch hgnc:IFT20 semapv:UnspecifiedMatching +OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:30989 semapv:UnspecifiedMatching +OMIM:614394 IFT20 skos:exactMatch hgnc.symbol:IFT20 semapv:UnspecifiedMatching OMIM:614394 IFT20 skos:exactMatch ncbigene:90410 semapv:UnspecifiedMatching -OMIM:614396 GPATCH8 skos:exactMatch hgnc:GPATCH8 semapv:UnspecifiedMatching +OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:29066 semapv:UnspecifiedMatching +OMIM:614396 GPATCH8 skos:exactMatch hgnc.symbol:GPATCH8 semapv:UnspecifiedMatching OMIM:614396 GPATCH8 skos:exactMatch ncbigene:23131 semapv:UnspecifiedMatching OMIM:614397 MFSD2A skos:exactMatch UMLS:C1825980 semapv:UnspecifiedMatching OMIM:614397 MFSD2A skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching -OMIM:614397 MFSD2A skos:exactMatch hgnc:MFSD2A semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:25897 semapv:UnspecifiedMatching +OMIM:614397 MFSD2A skos:exactMatch hgnc.symbol:MFSD2A semapv:UnspecifiedMatching OMIM:614397 MFSD2A skos:exactMatch ncbigene:84879 semapv:UnspecifiedMatching -OMIM:614398 JCAD skos:exactMatch hgnc:JCAD semapv:UnspecifiedMatching +OMIM:614398 JCAD skos:exactMatch hgnc.symbol:29283 semapv:UnspecifiedMatching +OMIM:614398 JCAD skos:exactMatch hgnc.symbol:JCAD semapv:UnspecifiedMatching OMIM:614398 JCAD skos:exactMatch ncbigene:57608 semapv:UnspecifiedMatching -OMIM:614403 RHBDF1 skos:exactMatch hgnc:RHBDF1 semapv:UnspecifiedMatching +OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:20561 semapv:UnspecifiedMatching +OMIM:614403 RHBDF1 skos:exactMatch hgnc.symbol:RHBDF1 semapv:UnspecifiedMatching OMIM:614403 RHBDF1 skos:exactMatch ncbigene:64285 semapv:UnspecifiedMatching -OMIM:614404 RHBDF2 skos:exactMatch hgnc:RHBDF2 semapv:UnspecifiedMatching +OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:20788 semapv:UnspecifiedMatching +OMIM:614404 RHBDF2 skos:exactMatch hgnc.symbol:RHBDF2 semapv:UnspecifiedMatching OMIM:614404 RHBDF2 skos:exactMatch ncbigene:79651 semapv:UnspecifiedMatching OMIM:614405 DHX33 skos:exactMatch UMLS:C1424504 semapv:UnspecifiedMatching -OMIM:614405 DHX33 skos:exactMatch hgnc:DHX33 semapv:UnspecifiedMatching +OMIM:614405 DHX33 skos:exactMatch hgnc.symbol:16718 semapv:UnspecifiedMatching +OMIM:614405 DHX33 skos:exactMatch hgnc.symbol:DHX33 semapv:UnspecifiedMatching OMIM:614405 DHX33 skos:exactMatch ncbigene:56919 semapv:UnspecifiedMatching -OMIM:614406 SCIMP skos:exactMatch hgnc:SCIMP semapv:UnspecifiedMatching +OMIM:614406 SCIMP skos:exactMatch hgnc.symbol:33504 semapv:UnspecifiedMatching +OMIM:614406 SCIMP skos:exactMatch hgnc.symbol:SCIMP semapv:UnspecifiedMatching OMIM:614406 SCIMP skos:exactMatch ncbigene:388325 semapv:UnspecifiedMatching -OMIM:614410 AFAP1L1 skos:exactMatch hgnc:AFAP1L1 semapv:UnspecifiedMatching +OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:26714 semapv:UnspecifiedMatching +OMIM:614410 AFAP1L1 skos:exactMatch hgnc.symbol:AFAP1L1 semapv:UnspecifiedMatching OMIM:614410 AFAP1L1 skos:exactMatch ncbigene:134265 semapv:UnspecifiedMatching -OMIM:614412 TOPAZ1 skos:exactMatch hgnc:TOPAZ1 semapv:UnspecifiedMatching +OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:24746 semapv:UnspecifiedMatching +OMIM:614412 TOPAZ1 skos:exactMatch hgnc.symbol:TOPAZ1 semapv:UnspecifiedMatching OMIM:614412 TOPAZ1 skos:exactMatch ncbigene:375337 semapv:UnspecifiedMatching -OMIM:614413 ACY3 skos:exactMatch hgnc:ACY3 semapv:UnspecifiedMatching +OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:24104 semapv:UnspecifiedMatching +OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:ACY3 semapv:UnspecifiedMatching OMIM:614413 ACY3 skos:exactMatch ncbigene:91703 semapv:UnspecifiedMatching +OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch UMLS:C3280742 semapv:UnspecifiedMatching -OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch orphanet.ordo:300345 semapv:UnspecifiedMatching -OMIM:614423 TMEM237 skos:exactMatch hgnc:TMEM237 semapv:UnspecifiedMatching +OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:14432 semapv:UnspecifiedMatching +OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:TMEM237 semapv:UnspecifiedMatching OMIM:614423 TMEM237 skos:exactMatch ncbigene:65062 semapv:UnspecifiedMatching -OMIM:614425 TTI1 skos:exactMatch hgnc:TTI1 semapv:UnspecifiedMatching +OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:29029 semapv:UnspecifiedMatching +OMIM:614425 TTI1 skos:exactMatch hgnc.symbol:TTI1 semapv:UnspecifiedMatching OMIM:614425 TTI1 skos:exactMatch ncbigene:9675 semapv:UnspecifiedMatching -OMIM:614426 TTI2 skos:exactMatch hgnc:TTI2 semapv:UnspecifiedMatching +OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:26262 semapv:UnspecifiedMatching +OMIM:614426 TTI2 skos:exactMatch hgnc.symbol:TTI2 semapv:UnspecifiedMatching OMIM:614426 TTI2 skos:exactMatch ncbigene:80185 semapv:UnspecifiedMatching -OMIM:614427 TSHZ1 skos:exactMatch hgnc:TSHZ1 semapv:UnspecifiedMatching +OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:10669 semapv:UnspecifiedMatching +OMIM:614427 TSHZ1 skos:exactMatch hgnc.symbol:TSHZ1 semapv:UnspecifiedMatching OMIM:614427 TSHZ1 skos:exactMatch ncbigene:10194 semapv:UnspecifiedMatching -OMIM:614428 TFAP2E skos:exactMatch hgnc:TFAP2E semapv:UnspecifiedMatching +OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:30774 semapv:UnspecifiedMatching +OMIM:614428 TFAP2E skos:exactMatch hgnc.symbol:TFAP2E semapv:UnspecifiedMatching OMIM:614428 TFAP2E skos:exactMatch ncbigene:339488 semapv:UnspecifiedMatching OMIM:614439 ARL14 skos:exactMatch UMLS:C1824214 semapv:UnspecifiedMatching -OMIM:614439 ARL14 skos:exactMatch hgnc:ARL14 semapv:UnspecifiedMatching +OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:22974 semapv:UnspecifiedMatching +OMIM:614439 ARL14 skos:exactMatch hgnc.symbol:ARL14 semapv:UnspecifiedMatching OMIM:614439 ARL14 skos:exactMatch ncbigene:80117 semapv:UnspecifiedMatching -OMIM:614440 PSD3 skos:exactMatch hgnc:PSD3 semapv:UnspecifiedMatching +OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:19093 semapv:UnspecifiedMatching +OMIM:614440 PSD3 skos:exactMatch hgnc.symbol:PSD3 semapv:UnspecifiedMatching OMIM:614440 PSD3 skos:exactMatch ncbigene:23362 semapv:UnspecifiedMatching -OMIM:614442 PSD4 skos:exactMatch hgnc:PSD4 semapv:UnspecifiedMatching +OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:19096 semapv:UnspecifiedMatching +OMIM:614442 PSD4 skos:exactMatch hgnc.symbol:PSD4 semapv:UnspecifiedMatching OMIM:614442 PSD4 skos:exactMatch ncbigene:23550 semapv:UnspecifiedMatching -OMIM:614443 EBNA1BP2 skos:exactMatch hgnc:EBNA1BP2 semapv:UnspecifiedMatching +OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:15531 semapv:UnspecifiedMatching +OMIM:614443 EBNA1BP2 skos:exactMatch hgnc.symbol:EBNA1BP2 semapv:UnspecifiedMatching OMIM:614443 EBNA1BP2 skos:exactMatch ncbigene:10969 semapv:UnspecifiedMatching -OMIM:614444 RALGPS1 skos:exactMatch hgnc:RALGPS1 semapv:UnspecifiedMatching +OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:16851 semapv:UnspecifiedMatching +OMIM:614444 RALGPS1 skos:exactMatch hgnc.symbol:RALGPS1 semapv:UnspecifiedMatching OMIM:614444 RALGPS1 skos:exactMatch ncbigene:9649 semapv:UnspecifiedMatching -OMIM:614445 DPPA2 skos:exactMatch hgnc:DPPA2 semapv:UnspecifiedMatching +OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:19197 semapv:UnspecifiedMatching +OMIM:614445 DPPA2 skos:exactMatch hgnc.symbol:DPPA2 semapv:UnspecifiedMatching OMIM:614445 DPPA2 skos:exactMatch ncbigene:151871 semapv:UnspecifiedMatching -OMIM:614446 ATP9B skos:exactMatch hgnc:ATP9B semapv:UnspecifiedMatching +OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:13541 semapv:UnspecifiedMatching +OMIM:614446 ATP9B skos:exactMatch hgnc.symbol:ATP9B semapv:UnspecifiedMatching OMIM:614446 ATP9B skos:exactMatch ncbigene:374868 semapv:UnspecifiedMatching -OMIM:614447 G0S2 skos:exactMatch hgnc:G0S2 semapv:UnspecifiedMatching +OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:30229 semapv:UnspecifiedMatching +OMIM:614447 G0S2 skos:exactMatch hgnc.symbol:G0S2 semapv:UnspecifiedMatching OMIM:614447 G0S2 skos:exactMatch ncbigene:50486 semapv:UnspecifiedMatching OMIM:614448 GMNC skos:exactMatch UMLS:C3280816 semapv:UnspecifiedMatching -OMIM:614448 GMNC skos:exactMatch hgnc:GMNC semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch hgnc.symbol:40049 semapv:UnspecifiedMatching +OMIM:614448 GMNC skos:exactMatch hgnc.symbol:GMNC semapv:UnspecifiedMatching OMIM:614448 GMNC skos:exactMatch ncbigene:647309 semapv:UnspecifiedMatching -OMIM:614449 PCDH20 skos:exactMatch hgnc:PCDH20 semapv:UnspecifiedMatching +OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:14257 semapv:UnspecifiedMatching +OMIM:614449 PCDH20 skos:exactMatch hgnc.symbol:PCDH20 semapv:UnspecifiedMatching OMIM:614449 PCDH20 skos:exactMatch ncbigene:64881 semapv:UnspecifiedMatching -OMIM:614451 ELOVL7 skos:exactMatch hgnc:ELOVL7 semapv:UnspecifiedMatching +OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:26292 semapv:UnspecifiedMatching +OMIM:614451 ELOVL7 skos:exactMatch hgnc.symbol:ELOVL7 semapv:UnspecifiedMatching OMIM:614451 ELOVL7 skos:exactMatch ncbigene:79993 semapv:UnspecifiedMatching OMIM:614452 ATAD1 skos:exactMatch UMLS:C1428532 semapv:UnspecifiedMatching OMIM:614452 ATAD1 skos:exactMatch UMLS:C4693933 semapv:UnspecifiedMatching -OMIM:614452 ATAD1 skos:exactMatch hgnc:ATAD1 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:25903 semapv:UnspecifiedMatching +OMIM:614452 ATAD1 skos:exactMatch hgnc.symbol:ATAD1 semapv:UnspecifiedMatching OMIM:614452 ATAD1 skos:exactMatch ncbigene:84896 semapv:UnspecifiedMatching -OMIM:614453 LRRC7 skos:exactMatch hgnc:LRRC7 semapv:UnspecifiedMatching +OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:18531 semapv:UnspecifiedMatching +OMIM:614453 LRRC7 skos:exactMatch hgnc.symbol:LRRC7 semapv:UnspecifiedMatching OMIM:614453 LRRC7 skos:exactMatch ncbigene:57554 semapv:UnspecifiedMatching -OMIM:614454 UBE3C skos:exactMatch hgnc:UBE3C semapv:UnspecifiedMatching +OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:16803 semapv:UnspecifiedMatching +OMIM:614454 UBE3C skos:exactMatch hgnc.symbol:UBE3C semapv:UnspecifiedMatching OMIM:614454 UBE3C skos:exactMatch ncbigene:9690 semapv:UnspecifiedMatching -OMIM:614459 TMEM138 skos:exactMatch hgnc:TMEM138 semapv:UnspecifiedMatching +OMIM:614459 TMEM138 skos:exactMatch hgnc.symbol:26944 semapv:UnspecifiedMatching +OMIM:614459 TMEM138 skos:exactMatch hgnc.symbol:TMEM138 semapv:UnspecifiedMatching OMIM:614459 TMEM138 skos:exactMatch ncbigene:51524 semapv:UnspecifiedMatching -OMIM:614460 USP47 skos:exactMatch hgnc:USP47 semapv:UnspecifiedMatching +OMIM:614460 USP47 skos:exactMatch hgnc.symbol:20076 semapv:UnspecifiedMatching +OMIM:614460 USP47 skos:exactMatch hgnc.symbol:USP47 semapv:UnspecifiedMatching OMIM:614460 USP47 skos:exactMatch ncbigene:55031 semapv:UnspecifiedMatching -OMIM:614461 UQCC2 skos:exactMatch hgnc:UQCC2 semapv:UnspecifiedMatching +OMIM:614461 UQCC2 skos:exactMatch hgnc.symbol:21237 semapv:UnspecifiedMatching +OMIM:614461 UQCC2 skos:exactMatch hgnc.symbol:UQCC2 semapv:UnspecifiedMatching OMIM:614461 UQCC2 skos:exactMatch ncbigene:84300 semapv:UnspecifiedMatching -OMIM:614463 NDRG4 skos:exactMatch hgnc:NDRG4 semapv:UnspecifiedMatching +OMIM:614463 NDRG4 skos:exactMatch hgnc.symbol:14466 semapv:UnspecifiedMatching +OMIM:614463 NDRG4 skos:exactMatch hgnc.symbol:NDRG4 semapv:UnspecifiedMatching OMIM:614463 NDRG4 skos:exactMatch ncbigene:65009 semapv:UnspecifiedMatching OMIM:614469 SRRT skos:exactMatch UMLS:C2680450 semapv:UnspecifiedMatching -OMIM:614469 SRRT skos:exactMatch hgnc:SRRT semapv:UnspecifiedMatching +OMIM:614469 SRRT skos:exactMatch hgnc.symbol:24101 semapv:UnspecifiedMatching +OMIM:614469 SRRT skos:exactMatch hgnc.symbol:SRRT semapv:UnspecifiedMatching OMIM:614469 SRRT skos:exactMatch ncbigene:51593 semapv:UnspecifiedMatching +OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch Orphanet:268114 semapv:UnspecifiedMatching OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch UMLS:C2674723 semapv:UnspecifiedMatching -OMIM:614470 ras-associated autoimmune leukoproliferative disorder skos:exactMatch orphanet.ordo:268114 semapv:UnspecifiedMatching -OMIM:614471 USP19 skos:exactMatch hgnc:USP19 semapv:UnspecifiedMatching +OMIM:614471 USP19 skos:exactMatch hgnc.symbol:12617 semapv:UnspecifiedMatching +OMIM:614471 USP19 skos:exactMatch hgnc.symbol:USP19 semapv:UnspecifiedMatching OMIM:614471 USP19 skos:exactMatch ncbigene:10869 semapv:UnspecifiedMatching -OMIM:614472 RNF123 skos:exactMatch hgnc:RNF123 semapv:UnspecifiedMatching +OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:21148 semapv:UnspecifiedMatching +OMIM:614472 RNF123 skos:exactMatch hgnc.symbol:RNF123 semapv:UnspecifiedMatching OMIM:614472 RNF123 skos:exactMatch ncbigene:63891 semapv:UnspecifiedMatching -OMIM:614476 THSD4 skos:exactMatch hgnc:THSD4 semapv:UnspecifiedMatching +OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:25835 semapv:UnspecifiedMatching +OMIM:614476 THSD4 skos:exactMatch hgnc.symbol:THSD4 semapv:UnspecifiedMatching OMIM:614476 THSD4 skos:exactMatch ncbigene:79875 semapv:UnspecifiedMatching -OMIM:614477 CFAP418 skos:exactMatch hgnc:CFAP418 semapv:UnspecifiedMatching +OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:27232 semapv:UnspecifiedMatching +OMIM:614477 CFAP418 skos:exactMatch hgnc.symbol:CFAP418 semapv:UnspecifiedMatching OMIM:614477 CFAP418 skos:exactMatch ncbigene:157657 semapv:UnspecifiedMatching OMIM:614478 COX14 skos:exactMatch UMLS:C1824382 semapv:UnspecifiedMatching OMIM:614478 COX14 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching -OMIM:614478 COX14 skos:exactMatch hgnc:COX14 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch hgnc.symbol:28216 semapv:UnspecifiedMatching +OMIM:614478 COX14 skos:exactMatch hgnc.symbol:COX14 semapv:UnspecifiedMatching OMIM:614478 COX14 skos:exactMatch ncbigene:84987 semapv:UnspecifiedMatching -OMIM:614479 MCAT skos:exactMatch hgnc:MCAT semapv:UnspecifiedMatching +OMIM:614479 MCAT skos:exactMatch hgnc.symbol:29622 semapv:UnspecifiedMatching +OMIM:614479 MCAT skos:exactMatch hgnc.symbol:MCAT semapv:UnspecifiedMatching OMIM:614479 MCAT skos:exactMatch ncbigene:27349 semapv:UnspecifiedMatching -OMIM:614481 ATXN7AS1 skos:exactMatch hgnc:SCAANT1 semapv:UnspecifiedMatching +OMIM:614481 ATXN7AS1 skos:exactMatch hgnc.symbol:43718 semapv:UnspecifiedMatching +OMIM:614481 ATXN7AS1 skos:exactMatch hgnc.symbol:SCAANT1 semapv:UnspecifiedMatching OMIM:614481 ATXN7AS1 skos:exactMatch ncbigene:100861563 semapv:UnspecifiedMatching +OMIM:614483 brain small vessel disease 2 skos:exactMatch Orphanet:2940 semapv:UnspecifiedMatching +OMIM:614483 brain small vessel disease 2 skos:exactMatch Orphanet:99810 semapv:UnspecifiedMatching OMIM:614483 brain small vessel disease 2 skos:exactMatch UMLS:C3280970 semapv:UnspecifiedMatching -OMIM:614483 brain small vessel disease 2 skos:exactMatch orphanet.ordo:2940 semapv:UnspecifiedMatching -OMIM:614483 brain small vessel disease 2 skos:exactMatch orphanet.ordo:99810 semapv:UnspecifiedMatching -OMIM:614484 ANAPC13 skos:exactMatch hgnc:ANAPC13 semapv:UnspecifiedMatching +OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:24540 semapv:UnspecifiedMatching +OMIM:614484 ANAPC13 skos:exactMatch hgnc.symbol:ANAPC13 semapv:UnspecifiedMatching OMIM:614484 ANAPC13 skos:exactMatch ncbigene:25847 semapv:UnspecifiedMatching +OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch Orphanet:313772 semapv:UnspecifiedMatching OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch UMLS:C3280977 semapv:UnspecifiedMatching -OMIM:614487 spastic ataxia 5, autosomal recessive skos:exactMatch orphanet.ordo:313772 semapv:UnspecifiedMatching -OMIM:614488 MIR1258 skos:exactMatch hgnc:MIR1258 semapv:UnspecifiedMatching +OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:35323 semapv:UnspecifiedMatching +OMIM:614488 MIR1258 skos:exactMatch hgnc.symbol:MIR1258 semapv:UnspecifiedMatching OMIM:614488 MIR1258 skos:exactMatch ncbigene:100302172 semapv:UnspecifiedMatching -OMIM:614489 MIR616 skos:exactMatch hgnc:MIR616 semapv:UnspecifiedMatching +OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:32872 semapv:UnspecifiedMatching +OMIM:614489 MIR616 skos:exactMatch hgnc.symbol:MIR616 semapv:UnspecifiedMatching OMIM:614489 MIR616 skos:exactMatch ncbigene:693201 semapv:UnspecifiedMatching +OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching -OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch orphanet.ordo:906 semapv:UnspecifiedMatching -OMIM:614502 PIERCE1 skos:exactMatch hgnc:PIERCE1 semapv:UnspecifiedMatching +OMIM:614502 PIERCE1 skos:exactMatch hgnc.symbol:28435 semapv:UnspecifiedMatching +OMIM:614502 PIERCE1 skos:exactMatch hgnc.symbol:PIERCE1 semapv:UnspecifiedMatching OMIM:614502 PIERCE1 skos:exactMatch ncbigene:138162 semapv:UnspecifiedMatching -OMIM:614503 KLHDC8A skos:exactMatch hgnc:KLHDC8A semapv:UnspecifiedMatching +OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:25573 semapv:UnspecifiedMatching +OMIM:614503 KLHDC8A skos:exactMatch hgnc.symbol:KLHDC8A semapv:UnspecifiedMatching OMIM:614503 KLHDC8A skos:exactMatch ncbigene:55220 semapv:UnspecifiedMatching -OMIM:614505 FKBP14 skos:exactMatch hgnc:FKBP14 semapv:UnspecifiedMatching +OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:18625 semapv:UnspecifiedMatching +OMIM:614505 FKBP14 skos:exactMatch hgnc.symbol:FKBP14 semapv:UnspecifiedMatching OMIM:614505 FKBP14 skos:exactMatch ncbigene:55033 semapv:UnspecifiedMatching -OMIM:614506 BRAT1 skos:exactMatch hgnc:BRAT1 semapv:UnspecifiedMatching +OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:21701 semapv:UnspecifiedMatching +OMIM:614506 BRAT1 skos:exactMatch hgnc.symbol:BRAT1 semapv:UnspecifiedMatching OMIM:614506 BRAT1 skos:exactMatch ncbigene:221927 semapv:UnspecifiedMatching -OMIM:614509 MIR99A skos:exactMatch hgnc:MIR99A semapv:UnspecifiedMatching +OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:31650 semapv:UnspecifiedMatching +OMIM:614509 MIR99A skos:exactMatch hgnc.symbol:MIR99A semapv:UnspecifiedMatching OMIM:614509 MIR99A skos:exactMatch ncbigene:407055 semapv:UnspecifiedMatching -OMIM:614510 MIR99B skos:exactMatch hgnc:MIR99B semapv:UnspecifiedMatching +OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:31651 semapv:UnspecifiedMatching +OMIM:614510 MIR99B skos:exactMatch hgnc.symbol:MIR99B semapv:UnspecifiedMatching OMIM:614510 MIR99B skos:exactMatch ncbigene:407056 semapv:UnspecifiedMatching -OMIM:614511 MDFIC skos:exactMatch hgnc:MDFIC semapv:UnspecifiedMatching +OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:28870 semapv:UnspecifiedMatching +OMIM:614511 MDFIC skos:exactMatch hgnc.symbol:MDFIC semapv:UnspecifiedMatching OMIM:614511 MDFIC skos:exactMatch ncbigene:29969 semapv:UnspecifiedMatching -OMIM:614512 TOR1AIP1 skos:exactMatch hgnc:TOR1AIP1 semapv:UnspecifiedMatching +OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:29456 semapv:UnspecifiedMatching +OMIM:614512 TOR1AIP1 skos:exactMatch hgnc.symbol:TOR1AIP1 semapv:UnspecifiedMatching OMIM:614512 TOR1AIP1 skos:exactMatch ncbigene:26092 semapv:UnspecifiedMatching -OMIM:614513 TOR1AIP2 skos:exactMatch hgnc:TOR1AIP2 semapv:UnspecifiedMatching +OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:24055 semapv:UnspecifiedMatching +OMIM:614513 TOR1AIP2 skos:exactMatch hgnc.symbol:TOR1AIP2 semapv:UnspecifiedMatching OMIM:614513 TOR1AIP2 skos:exactMatch ncbigene:163590 semapv:UnspecifiedMatching -OMIM:614515 GPR179 skos:exactMatch hgnc:GPR179 semapv:UnspecifiedMatching +OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:31371 semapv:UnspecifiedMatching +OMIM:614515 GPR179 skos:exactMatch hgnc.symbol:GPR179 semapv:UnspecifiedMatching OMIM:614515 GPR179 skos:exactMatch ncbigene:440435 semapv:UnspecifiedMatching -OMIM:614516 DOLPP1 skos:exactMatch hgnc:DOLPP1 semapv:UnspecifiedMatching +OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:29565 semapv:UnspecifiedMatching +OMIM:614516 DOLPP1 skos:exactMatch hgnc.symbol:DOLPP1 semapv:UnspecifiedMatching OMIM:614516 DOLPP1 skos:exactMatch ncbigene:57171 semapv:UnspecifiedMatching -OMIM:614517 BMAL2 skos:exactMatch hgnc:BMAL2 semapv:UnspecifiedMatching +OMIM:614517 BMAL2 skos:exactMatch hgnc.symbol:BMAL2 semapv:UnspecifiedMatching OMIM:614517 BMAL2 skos:exactMatch ncbigene:56938 semapv:UnspecifiedMatching -OMIM:614518 GATAD1 skos:exactMatch hgnc:GATAD1 semapv:UnspecifiedMatching +OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:29941 semapv:UnspecifiedMatching +OMIM:614518 GATAD1 skos:exactMatch hgnc.symbol:GATAD1 semapv:UnspecifiedMatching OMIM:614518 GATAD1 skos:exactMatch ncbigene:57798 semapv:UnspecifiedMatching -OMIM:614522 KLHL12 skos:exactMatch hgnc:KLHL12 semapv:UnspecifiedMatching +OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:19360 semapv:UnspecifiedMatching +OMIM:614522 KLHL12 skos:exactMatch hgnc.symbol:KLHL12 semapv:UnspecifiedMatching OMIM:614522 KLHL12 skos:exactMatch ncbigene:59349 semapv:UnspecifiedMatching -OMIM:614523 MIR489 skos:exactMatch hgnc:MIR489 semapv:UnspecifiedMatching +OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:32074 semapv:UnspecifiedMatching +OMIM:614523 MIR489 skos:exactMatch hgnc.symbol:MIR489 semapv:UnspecifiedMatching OMIM:614523 MIR489 skos:exactMatch ncbigene:574442 semapv:UnspecifiedMatching -OMIM:614525 NFATC2IP skos:exactMatch hgnc:NFATC2IP semapv:UnspecifiedMatching +OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:25906 semapv:UnspecifiedMatching +OMIM:614525 NFATC2IP skos:exactMatch hgnc.symbol:NFATC2IP semapv:UnspecifiedMatching OMIM:614525 NFATC2IP skos:exactMatch ncbigene:84901 semapv:UnspecifiedMatching -OMIM:614528 HIF1AAS1 skos:exactMatch hgnc:HIF1A-AS1 semapv:UnspecifiedMatching +OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:43014 semapv:UnspecifiedMatching +OMIM:614528 HIF1AAS1 skos:exactMatch hgnc.symbol:HIF1A-AS1 semapv:UnspecifiedMatching OMIM:614528 HIF1AAS1 skos:exactMatch ncbigene:100750246 semapv:UnspecifiedMatching -OMIM:614529 HIF1AAS2 skos:exactMatch hgnc:HIF1A-AS2 semapv:UnspecifiedMatching +OMIM:614529 HIF1AAS2 skos:exactMatch hgnc.symbol:43015 semapv:UnspecifiedMatching +OMIM:614529 HIF1AAS2 skos:exactMatch hgnc.symbol:HIF1A-AS2 semapv:UnspecifiedMatching OMIM:614529 HIF1AAS2 skos:exactMatch ncbigene:100750247 semapv:UnspecifiedMatching -OMIM:614530 NDUFA12 skos:exactMatch hgnc:NDUFA12 semapv:UnspecifiedMatching +OMIM:614530 NDUFA12 skos:exactMatch hgnc.symbol:23987 semapv:UnspecifiedMatching +OMIM:614530 NDUFA12 skos:exactMatch hgnc.symbol:NDUFA12 semapv:UnspecifiedMatching OMIM:614530 NDUFA12 skos:exactMatch ncbigene:55967 semapv:UnspecifiedMatching -OMIM:614531 RASGEF1A skos:exactMatch hgnc:RASGEF1A semapv:UnspecifiedMatching +OMIM:614531 RASGEF1A skos:exactMatch hgnc.symbol:24246 semapv:UnspecifiedMatching +OMIM:614531 RASGEF1A skos:exactMatch hgnc.symbol:RASGEF1A semapv:UnspecifiedMatching OMIM:614531 RASGEF1A skos:exactMatch ncbigene:221002 semapv:UnspecifiedMatching -OMIM:614532 RASGEF1B skos:exactMatch hgnc:RASGEF1B semapv:UnspecifiedMatching +OMIM:614532 RASGEF1B skos:exactMatch hgnc.symbol:24881 semapv:UnspecifiedMatching +OMIM:614532 RASGEF1B skos:exactMatch hgnc.symbol:RASGEF1B semapv:UnspecifiedMatching OMIM:614532 RASGEF1B skos:exactMatch ncbigene:153020 semapv:UnspecifiedMatching -OMIM:614533 CDC26 skos:exactMatch hgnc:CDC26 semapv:UnspecifiedMatching +OMIM:614533 CDC26 skos:exactMatch hgnc.symbol:17839 semapv:UnspecifiedMatching +OMIM:614533 CDC26 skos:exactMatch hgnc.symbol:CDC26 semapv:UnspecifiedMatching OMIM:614533 CDC26 skos:exactMatch ncbigene:246184 semapv:UnspecifiedMatching -OMIM:614534 ANAPC11 skos:exactMatch hgnc:ANAPC11 semapv:UnspecifiedMatching +OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:14452 semapv:UnspecifiedMatching +OMIM:614534 ANAPC11 skos:exactMatch hgnc.symbol:ANAPC11 semapv:UnspecifiedMatching OMIM:614534 ANAPC11 skos:exactMatch ncbigene:51529 semapv:UnspecifiedMatching -OMIM:614535 ZSWIM7 skos:exactMatch hgnc:ZSWIM7 semapv:UnspecifiedMatching +OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:26993 semapv:UnspecifiedMatching +OMIM:614535 ZSWIM7 skos:exactMatch hgnc.symbol:ZSWIM7 semapv:UnspecifiedMatching OMIM:614535 ZSWIM7 skos:exactMatch ncbigene:125150 semapv:UnspecifiedMatching -OMIM:614536 SWSAP1 skos:exactMatch hgnc:SWSAP1 semapv:UnspecifiedMatching +OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:26638 semapv:UnspecifiedMatching +OMIM:614536 SWSAP1 skos:exactMatch hgnc.symbol:SWSAP1 semapv:UnspecifiedMatching OMIM:614536 SWSAP1 skos:exactMatch ncbigene:126074 semapv:UnspecifiedMatching -OMIM:614537 LRMDA skos:exactMatch hgnc:LRMDA semapv:UnspecifiedMatching +OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:23405 semapv:UnspecifiedMatching +OMIM:614537 LRMDA skos:exactMatch hgnc.symbol:LRMDA semapv:UnspecifiedMatching OMIM:614537 LRMDA skos:exactMatch ncbigene:83938 semapv:UnspecifiedMatching -OMIM:614538 MIR570 skos:exactMatch hgnc:MIR570 semapv:UnspecifiedMatching +OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:32826 semapv:UnspecifiedMatching +OMIM:614538 MIR570 skos:exactMatch hgnc.symbol:MIR570 semapv:UnspecifiedMatching OMIM:614538 MIR570 skos:exactMatch ncbigene:693155 semapv:UnspecifiedMatching -OMIM:614539 HELB skos:exactMatch hgnc:HELB semapv:UnspecifiedMatching +OMIM:614539 HELB skos:exactMatch hgnc.symbol:17196 semapv:UnspecifiedMatching +OMIM:614539 HELB skos:exactMatch hgnc.symbol:HELB semapv:UnspecifiedMatching OMIM:614539 HELB skos:exactMatch ncbigene:92797 semapv:UnspecifiedMatching -OMIM:614542 DIPK1A skos:exactMatch hgnc:DIPK1A semapv:UnspecifiedMatching +OMIM:614542 DIPK1A skos:exactMatch hgnc.symbol:32213 semapv:UnspecifiedMatching +OMIM:614542 DIPK1A skos:exactMatch hgnc.symbol:DIPK1A semapv:UnspecifiedMatching OMIM:614542 DIPK1A skos:exactMatch ncbigene:388650 semapv:UnspecifiedMatching -OMIM:614543 DIPK1B skos:exactMatch hgnc:DIPK1B semapv:UnspecifiedMatching +OMIM:614543 DIPK1B skos:exactMatch hgnc.symbol:28290 semapv:UnspecifiedMatching +OMIM:614543 DIPK1B skos:exactMatch hgnc.symbol:DIPK1B semapv:UnspecifiedMatching OMIM:614543 DIPK1B skos:exactMatch ncbigene:138311 semapv:UnspecifiedMatching -OMIM:614544 DIPK1C skos:exactMatch hgnc:DIPK1C semapv:UnspecifiedMatching +OMIM:614544 DIPK1C skos:exactMatch hgnc.symbol:31729 semapv:UnspecifiedMatching +OMIM:614544 DIPK1C skos:exactMatch hgnc.symbol:DIPK1C semapv:UnspecifiedMatching OMIM:614544 DIPK1C skos:exactMatch ncbigene:125704 semapv:UnspecifiedMatching -OMIM:614545 EMC10 skos:exactMatch hgnc:EMC10 semapv:UnspecifiedMatching +OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:27609 semapv:UnspecifiedMatching +OMIM:614545 EMC10 skos:exactMatch hgnc.symbol:EMC10 semapv:UnspecifiedMatching OMIM:614545 EMC10 skos:exactMatch ncbigene:284361 semapv:UnspecifiedMatching -OMIM:614547 FAM103A1 skos:exactMatch hgnc:RAMAC semapv:UnspecifiedMatching +OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:31022 semapv:UnspecifiedMatching +OMIM:614547 FAM103A1 skos:exactMatch hgnc.symbol:RAMAC semapv:UnspecifiedMatching OMIM:614547 FAM103A1 skos:exactMatch ncbigene:83640 semapv:UnspecifiedMatching -OMIM:614548 SERINC1 skos:exactMatch hgnc:SERINC1 semapv:UnspecifiedMatching +OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:13464 semapv:UnspecifiedMatching +OMIM:614548 SERINC1 skos:exactMatch hgnc.symbol:SERINC1 semapv:UnspecifiedMatching OMIM:614548 SERINC1 skos:exactMatch ncbigene:57515 semapv:UnspecifiedMatching -OMIM:614549 SERINC2 skos:exactMatch hgnc:SERINC2 semapv:UnspecifiedMatching +OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:23231 semapv:UnspecifiedMatching +OMIM:614549 SERINC2 skos:exactMatch hgnc.symbol:SERINC2 semapv:UnspecifiedMatching OMIM:614549 SERINC2 skos:exactMatch ncbigene:347735 semapv:UnspecifiedMatching -OMIM:614550 SERINC4 skos:exactMatch hgnc:SERINC4 semapv:UnspecifiedMatching +OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:32237 semapv:UnspecifiedMatching +OMIM:614550 SERINC4 skos:exactMatch hgnc.symbol:SERINC4 semapv:UnspecifiedMatching OMIM:614550 SERINC4 skos:exactMatch ncbigene:619189 semapv:UnspecifiedMatching -OMIM:614551 SERINC5 skos:exactMatch hgnc:SERINC5 semapv:UnspecifiedMatching +OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:18825 semapv:UnspecifiedMatching +OMIM:614551 SERINC5 skos:exactMatch hgnc.symbol:SERINC5 semapv:UnspecifiedMatching OMIM:614551 SERINC5 skos:exactMatch ncbigene:256987 semapv:UnspecifiedMatching -OMIM:614552 XXYLT1 skos:exactMatch hgnc:XXYLT1 semapv:UnspecifiedMatching +OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:26639 semapv:UnspecifiedMatching +OMIM:614552 XXYLT1 skos:exactMatch hgnc.symbol:XXYLT1 semapv:UnspecifiedMatching OMIM:614552 XXYLT1 skos:exactMatch ncbigene:152002 semapv:UnspecifiedMatching -OMIM:614553 N6AMT1 skos:exactMatch hgnc:N6AMT1 semapv:UnspecifiedMatching +OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:16021 semapv:UnspecifiedMatching +OMIM:614553 N6AMT1 skos:exactMatch hgnc.symbol:N6AMT1 semapv:UnspecifiedMatching OMIM:614553 N6AMT1 skos:exactMatch ncbigene:29104 semapv:UnspecifiedMatching -OMIM:614554 FAM32A skos:exactMatch hgnc:FAM32A semapv:UnspecifiedMatching +OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:24563 semapv:UnspecifiedMatching +OMIM:614554 FAM32A skos:exactMatch hgnc.symbol:FAM32A semapv:UnspecifiedMatching OMIM:614554 FAM32A skos:exactMatch ncbigene:26017 semapv:UnspecifiedMatching -OMIM:614555 FRMD6 skos:exactMatch hgnc:FRMD6 semapv:UnspecifiedMatching +OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:19839 semapv:UnspecifiedMatching +OMIM:614555 FRMD6 skos:exactMatch hgnc.symbol:FRMD6 semapv:UnspecifiedMatching OMIM:614555 FRMD6 skos:exactMatch ncbigene:122786 semapv:UnspecifiedMatching -OMIM:614556 ARID1B skos:exactMatch hgnc:ARID1B semapv:UnspecifiedMatching +OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:18040 semapv:UnspecifiedMatching +OMIM:614556 ARID1B skos:exactMatch hgnc.symbol:ARID1B semapv:UnspecifiedMatching OMIM:614556 ARID1B skos:exactMatch ncbigene:57492 semapv:UnspecifiedMatching +OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch UMLS:C3281191 semapv:UnspecifiedMatching -OMIM:614558 developmental and epileptic encephalopathy 13 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 semapv:UnspecifiedMatching OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch UMLS:C3281192 semapv:UnspecifiedMatching -OMIM:614559 infantile cerebellar-retinal degeneration skos:exactMatch orphanet.ordo:313850 semapv:UnspecifiedMatching OMIM:614560 MAU2 skos:exactMatch UMLS:C1428798 semapv:UnspecifiedMatching -OMIM:614560 MAU2 skos:exactMatch hgnc:MAU2 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:29140 semapv:UnspecifiedMatching +OMIM:614560 MAU2 skos:exactMatch hgnc.symbol:MAU2 semapv:UnspecifiedMatching OMIM:614560 MAU2 skos:exactMatch ncbigene:23383 semapv:UnspecifiedMatching +OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch Orphanet:313846 semapv:UnspecifiedMatching OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch UMLS:C3281203 semapv:UnspecifiedMatching -OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial skos:exactMatch orphanet.ordo:313846 semapv:UnspecifiedMatching -OMIM:614566 DNAAF3 skos:exactMatch hgnc:DNAAF3 semapv:UnspecifiedMatching +OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:30492 semapv:UnspecifiedMatching +OMIM:614566 DNAAF3 skos:exactMatch hgnc.symbol:DNAAF3 semapv:UnspecifiedMatching OMIM:614566 DNAAF3 skos:exactMatch ncbigene:352909 semapv:UnspecifiedMatching -OMIM:614567 DIAPH3 skos:exactMatch hgnc:DIAPH3 semapv:UnspecifiedMatching +OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:15480 semapv:UnspecifiedMatching +OMIM:614567 DIAPH3 skos:exactMatch hgnc.symbol:DIAPH3 semapv:UnspecifiedMatching OMIM:614567 DIAPH3 skos:exactMatch ncbigene:81624 semapv:UnspecifiedMatching -OMIM:614568 UNC13C skos:exactMatch hgnc:UNC13C semapv:UnspecifiedMatching +OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:23149 semapv:UnspecifiedMatching +OMIM:614568 UNC13C skos:exactMatch hgnc.symbol:UNC13C semapv:UnspecifiedMatching OMIM:614568 UNC13C skos:exactMatch ncbigene:440279 semapv:UnspecifiedMatching -OMIM:614570 KIF18B skos:exactMatch hgnc:KIF18B semapv:UnspecifiedMatching +OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:27102 semapv:UnspecifiedMatching +OMIM:614570 KIF18B skos:exactMatch hgnc.symbol:KIF18B semapv:UnspecifiedMatching OMIM:614570 KIF18B skos:exactMatch ncbigene:146909 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2240273 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2745997 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch UMLS:C3553264 semapv:UnspecifiedMatching -OMIM:614571 CPLANE1 skos:exactMatch hgnc:CPLANE1 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:25801 semapv:UnspecifiedMatching +OMIM:614571 CPLANE1 skos:exactMatch hgnc.symbol:CPLANE1 semapv:UnspecifiedMatching OMIM:614571 CPLANE1 skos:exactMatch ncbigene:65250 semapv:UnspecifiedMatching -OMIM:614572 ZFP42 skos:exactMatch hgnc:ZFP42 semapv:UnspecifiedMatching +OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:30949 semapv:UnspecifiedMatching +OMIM:614572 ZFP42 skos:exactMatch hgnc.symbol:ZFP42 semapv:UnspecifiedMatching OMIM:614572 ZFP42 skos:exactMatch ncbigene:132625 semapv:UnspecifiedMatching -OMIM:614573 GPR158 skos:exactMatch hgnc:GPR158 semapv:UnspecifiedMatching +OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:23689 semapv:UnspecifiedMatching +OMIM:614573 GPR158 skos:exactMatch hgnc.symbol:GPR158 semapv:UnspecifiedMatching OMIM:614573 GPR158 skos:exactMatch ncbigene:57512 semapv:UnspecifiedMatching -OMIM:614574 ROGDI skos:exactMatch hgnc:ROGDI semapv:UnspecifiedMatching +OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:29478 semapv:UnspecifiedMatching +OMIM:614574 ROGDI skos:exactMatch hgnc.symbol:ROGDI semapv:UnspecifiedMatching OMIM:614574 ROGDI skos:exactMatch ncbigene:79641 semapv:UnspecifiedMatching +OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch Orphanet:504476 semapv:UnspecifiedMatching OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch UMLS:C3281223 semapv:UnspecifiedMatching -OMIM:614575 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome skos:exactMatch orphanet.ordo:504476 semapv:UnspecifiedMatching -OMIM:614577 PAQR3 skos:exactMatch hgnc:PAQR3 semapv:UnspecifiedMatching +OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:30130 semapv:UnspecifiedMatching +OMIM:614577 PAQR3 skos:exactMatch hgnc.symbol:PAQR3 semapv:UnspecifiedMatching OMIM:614577 PAQR3 skos:exactMatch ncbigene:152559 semapv:UnspecifiedMatching -OMIM:614578 PAQR4 skos:exactMatch hgnc:PAQR4 semapv:UnspecifiedMatching +OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:26386 semapv:UnspecifiedMatching +OMIM:614578 PAQR4 skos:exactMatch hgnc.symbol:PAQR4 semapv:UnspecifiedMatching OMIM:614578 PAQR4 skos:exactMatch ncbigene:124222 semapv:UnspecifiedMatching -OMIM:614579 PAQR6 skos:exactMatch hgnc:PAQR6 semapv:UnspecifiedMatching +OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:30132 semapv:UnspecifiedMatching +OMIM:614579 PAQR6 skos:exactMatch hgnc.symbol:PAQR6 semapv:UnspecifiedMatching OMIM:614579 PAQR6 skos:exactMatch ncbigene:79957 semapv:UnspecifiedMatching -OMIM:614580 PAQR9 skos:exactMatch hgnc:PAQR9 semapv:UnspecifiedMatching +OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:30131 semapv:UnspecifiedMatching +OMIM:614580 PAQR9 skos:exactMatch hgnc.symbol:PAQR9 semapv:UnspecifiedMatching OMIM:614580 PAQR9 skos:exactMatch ncbigene:344838 semapv:UnspecifiedMatching -OMIM:614581 MMD2 skos:exactMatch hgnc:MMD2 semapv:UnspecifiedMatching +OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:30133 semapv:UnspecifiedMatching +OMIM:614581 MMD2 skos:exactMatch hgnc.symbol:MMD2 semapv:UnspecifiedMatching OMIM:614581 MMD2 skos:exactMatch ncbigene:221938 semapv:UnspecifiedMatching -OMIM:614584 P4HTM skos:exactMatch hgnc:P4HTM semapv:UnspecifiedMatching +OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:28858 semapv:UnspecifiedMatching +OMIM:614584 P4HTM skos:exactMatch hgnc.symbol:P4HTM semapv:UnspecifiedMatching OMIM:614584 P4HTM skos:exactMatch ncbigene:54681 semapv:UnspecifiedMatching -OMIM:614585 FDX2 skos:exactMatch hgnc:FDX2 semapv:UnspecifiedMatching +OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:30546 semapv:UnspecifiedMatching +OMIM:614585 FDX2 skos:exactMatch hgnc.symbol:FDX2 semapv:UnspecifiedMatching OMIM:614585 FDX2 skos:exactMatch ncbigene:112812 semapv:UnspecifiedMatching -OMIM:614586 ZDHHC5 skos:exactMatch hgnc:ZDHHC5 semapv:UnspecifiedMatching +OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:18472 semapv:UnspecifiedMatching +OMIM:614586 ZDHHC5 skos:exactMatch hgnc.symbol:ZDHHC5 semapv:UnspecifiedMatching OMIM:614586 ZDHHC5 skos:exactMatch ncbigene:25921 semapv:UnspecifiedMatching OMIM:614587 CHAC1 skos:exactMatch UMLS:C1824730 semapv:UnspecifiedMatching -OMIM:614587 CHAC1 skos:exactMatch hgnc:CHAC1 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:28680 semapv:UnspecifiedMatching +OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:CHAC1 semapv:UnspecifiedMatching OMIM:614587 CHAC1 skos:exactMatch ncbigene:79094 semapv:UnspecifiedMatching -OMIM:614589 SKIC3 skos:exactMatch hgnc:SKIC3 semapv:UnspecifiedMatching +OMIM:614589 SKIC3 skos:exactMatch hgnc.symbol:SKIC3 semapv:UnspecifiedMatching OMIM:614589 SKIC3 skos:exactMatch ncbigene:9652 semapv:UnspecifiedMatching -OMIM:614591 CEACAM16 skos:exactMatch hgnc:CEACAM16 semapv:UnspecifiedMatching +OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:31948 semapv:UnspecifiedMatching +OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:CEACAM16 semapv:UnspecifiedMatching OMIM:614591 CEACAM16 skos:exactMatch ncbigene:388551 semapv:UnspecifiedMatching -OMIM:614593 MARF1 skos:exactMatch hgnc:MARF1 semapv:UnspecifiedMatching +OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:29562 semapv:UnspecifiedMatching +OMIM:614593 MARF1 skos:exactMatch hgnc.symbol:MARF1 semapv:UnspecifiedMatching OMIM:614593 MARF1 skos:exactMatch ncbigene:9665 semapv:UnspecifiedMatching -OMIM:614596 MIR302A skos:exactMatch hgnc:MIR302A semapv:UnspecifiedMatching +OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:31623 semapv:UnspecifiedMatching +OMIM:614596 MIR302A skos:exactMatch hgnc.symbol:MIR302A semapv:UnspecifiedMatching OMIM:614596 MIR302A skos:exactMatch ncbigene:407028 semapv:UnspecifiedMatching -OMIM:614597 MIR302B skos:exactMatch hgnc:MIR302B semapv:UnspecifiedMatching +OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:31763 semapv:UnspecifiedMatching +OMIM:614597 MIR302B skos:exactMatch hgnc.symbol:MIR302B semapv:UnspecifiedMatching OMIM:614597 MIR302B skos:exactMatch ncbigene:442894 semapv:UnspecifiedMatching -OMIM:614598 MIR302C skos:exactMatch hgnc:MIR302C semapv:UnspecifiedMatching +OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:31764 semapv:UnspecifiedMatching +OMIM:614598 MIR302C skos:exactMatch hgnc.symbol:MIR302C semapv:UnspecifiedMatching OMIM:614598 MIR302C skos:exactMatch ncbigene:442895 semapv:UnspecifiedMatching -OMIM:614599 MIR302D skos:exactMatch hgnc:MIR302D semapv:UnspecifiedMatching +OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:31765 semapv:UnspecifiedMatching +OMIM:614599 MIR302D skos:exactMatch hgnc.symbol:MIR302D semapv:UnspecifiedMatching OMIM:614599 MIR302D skos:exactMatch ncbigene:442896 semapv:UnspecifiedMatching -OMIM:614600 MIR367 skos:exactMatch hgnc:MIR367 semapv:UnspecifiedMatching +OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:31781 semapv:UnspecifiedMatching +OMIM:614600 MIR367 skos:exactMatch hgnc.symbol:MIR367 semapv:UnspecifiedMatching OMIM:614600 MIR367 skos:exactMatch ncbigene:442912 semapv:UnspecifiedMatching -OMIM:614601 ZNF326 skos:exactMatch hgnc:ZNF326 semapv:UnspecifiedMatching +OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:14104 semapv:UnspecifiedMatching +OMIM:614601 ZNF326 skos:exactMatch hgnc.symbol:ZNF326 semapv:UnspecifiedMatching OMIM:614601 ZNF326 skos:exactMatch ncbigene:284695 semapv:UnspecifiedMatching -OMIM:614603 DDHD1 skos:exactMatch hgnc:DDHD1 semapv:UnspecifiedMatching +OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:19714 semapv:UnspecifiedMatching +OMIM:614603 DDHD1 skos:exactMatch hgnc.symbol:DDHD1 semapv:UnspecifiedMatching OMIM:614603 DDHD1 skos:exactMatch ncbigene:80821 semapv:UnspecifiedMatching -OMIM:614604 ZDHHC7 skos:exactMatch hgnc:ZDHHC7 semapv:UnspecifiedMatching +OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:18459 semapv:UnspecifiedMatching +OMIM:614604 ZDHHC7 skos:exactMatch hgnc.symbol:ZDHHC7 semapv:UnspecifiedMatching OMIM:614604 ZDHHC7 skos:exactMatch ncbigene:55625 semapv:UnspecifiedMatching -OMIM:614605 ZDHHC21 skos:exactMatch hgnc:ZDHHC21 semapv:UnspecifiedMatching +OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:20750 semapv:UnspecifiedMatching +OMIM:614605 ZDHHC21 skos:exactMatch hgnc.symbol:ZDHHC21 semapv:UnspecifiedMatching OMIM:614605 ZDHHC21 skos:exactMatch ncbigene:340481 semapv:UnspecifiedMatching -OMIM:614606 FOCAD skos:exactMatch hgnc:FOCAD semapv:UnspecifiedMatching +OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:23377 semapv:UnspecifiedMatching +OMIM:614606 FOCAD skos:exactMatch hgnc.symbol:FOCAD semapv:UnspecifiedMatching OMIM:614606 FOCAD skos:exactMatch ncbigene:54914 semapv:UnspecifiedMatching -OMIM:614610 KANK2 skos:exactMatch hgnc:KANK2 semapv:UnspecifiedMatching +OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:29300 semapv:UnspecifiedMatching +OMIM:614610 KANK2 skos:exactMatch hgnc.symbol:KANK2 semapv:UnspecifiedMatching OMIM:614610 KANK2 skos:exactMatch ncbigene:25959 semapv:UnspecifiedMatching -OMIM:614611 KANK3 skos:exactMatch hgnc:KANK3 semapv:UnspecifiedMatching +OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:24796 semapv:UnspecifiedMatching +OMIM:614611 KANK3 skos:exactMatch hgnc.symbol:KANK3 semapv:UnspecifiedMatching OMIM:614611 KANK3 skos:exactMatch ncbigene:256949 semapv:UnspecifiedMatching -OMIM:614612 KANK4 skos:exactMatch hgnc:KANK4 semapv:UnspecifiedMatching +OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:27263 semapv:UnspecifiedMatching +OMIM:614612 KANK4 skos:exactMatch hgnc.symbol:KANK4 semapv:UnspecifiedMatching OMIM:614612 KANK4 skos:exactMatch ncbigene:163782 semapv:UnspecifiedMatching -OMIM:614620 IFT140 skos:exactMatch hgnc:IFT140 semapv:UnspecifiedMatching +OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:29077 semapv:UnspecifiedMatching +OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:IFT140 semapv:UnspecifiedMatching OMIM:614620 IFT140 skos:exactMatch ncbigene:9742 semapv:UnspecifiedMatching -OMIM:614624 MALSU1 skos:exactMatch hgnc:MALSU1 semapv:UnspecifiedMatching +OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:21721 semapv:UnspecifiedMatching +OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:MALSU1 semapv:UnspecifiedMatching OMIM:614624 MALSU1 skos:exactMatch ncbigene:115416 semapv:UnspecifiedMatching -OMIM:614625 DANCR skos:exactMatch hgnc:DANCR semapv:UnspecifiedMatching +OMIM:614625 DANCR skos:exactMatch hgnc.symbol:28964 semapv:UnspecifiedMatching +OMIM:614625 DANCR skos:exactMatch hgnc.symbol:DANCR semapv:UnspecifiedMatching OMIM:614625 DANCR skos:exactMatch ncbigene:57291 semapv:UnspecifiedMatching -OMIM:614626 SNORA26 skos:exactMatch hgnc:SNORA26 semapv:UnspecifiedMatching +OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:32616 semapv:UnspecifiedMatching +OMIM:614626 SNORA26 skos:exactMatch hgnc.symbol:SNORA26 semapv:UnspecifiedMatching OMIM:614626 SNORA26 skos:exactMatch ncbigene:677810 semapv:UnspecifiedMatching -OMIM:614627 MIR4449 skos:exactMatch hgnc:MIR4449 semapv:UnspecifiedMatching +OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:41864 semapv:UnspecifiedMatching +OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:MIR4449 semapv:UnspecifiedMatching OMIM:614627 MIR4449 skos:exactMatch ncbigene:100616436 semapv:UnspecifiedMatching -OMIM:614630 ADGB skos:exactMatch hgnc:ADGB semapv:UnspecifiedMatching +OMIM:614630 ADGB skos:exactMatch hgnc.symbol:21212 semapv:UnspecifiedMatching +OMIM:614630 ADGB skos:exactMatch hgnc.symbol:ADGB semapv:UnspecifiedMatching OMIM:614630 ADGB skos:exactMatch ncbigene:79747 semapv:UnspecifiedMatching OMIM:614631 CRPPA skos:exactMatch UMLS:C2829592 semapv:UnspecifiedMatching OMIM:614631 CRPPA skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching OMIM:614631 CRPPA skos:exactMatch UMLS:C4015095 semapv:UnspecifiedMatching -OMIM:614631 CRPPA skos:exactMatch hgnc:CRPPA semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:37276 semapv:UnspecifiedMatching +OMIM:614631 CRPPA skos:exactMatch hgnc.symbol:CRPPA semapv:UnspecifiedMatching OMIM:614631 CRPPA skos:exactMatch ncbigene:729920 semapv:UnspecifiedMatching -OMIM:614632 UVSSA skos:exactMatch hgnc:UVSSA semapv:UnspecifiedMatching +OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:29304 semapv:UnspecifiedMatching +OMIM:614632 UVSSA skos:exactMatch hgnc.symbol:UVSSA semapv:UnspecifiedMatching OMIM:614632 UVSSA skos:exactMatch ncbigene:57654 semapv:UnspecifiedMatching -OMIM:614633 VPS54 skos:exactMatch hgnc:VPS54 semapv:UnspecifiedMatching +OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:18652 semapv:UnspecifiedMatching +OMIM:614633 VPS54 skos:exactMatch hgnc.symbol:VPS54 semapv:UnspecifiedMatching OMIM:614633 VPS54 skos:exactMatch ncbigene:51542 semapv:UnspecifiedMatching -OMIM:614634 CEP126 skos:exactMatch hgnc:CEP126 semapv:UnspecifiedMatching +OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:29264 semapv:UnspecifiedMatching +OMIM:614634 CEP126 skos:exactMatch hgnc.symbol:CEP126 semapv:UnspecifiedMatching OMIM:614634 CEP126 skos:exactMatch ncbigene:57562 semapv:UnspecifiedMatching -OMIM:614635 LINC00538 skos:exactMatch hgnc:LINC00538 semapv:UnspecifiedMatching +OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:43655 semapv:UnspecifiedMatching +OMIM:614635 LINC00538 skos:exactMatch hgnc.symbol:LINC00538 semapv:UnspecifiedMatching OMIM:614635 LINC00538 skos:exactMatch ncbigene:100861504 semapv:UnspecifiedMatching -OMIM:614636 MYO1H skos:exactMatch hgnc:MYO1H semapv:UnspecifiedMatching +OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:13879 semapv:UnspecifiedMatching +OMIM:614636 MYO1H skos:exactMatch hgnc.symbol:MYO1H semapv:UnspecifiedMatching OMIM:614636 MYO1H skos:exactMatch ncbigene:283446 semapv:UnspecifiedMatching -OMIM:614637 DESI1 skos:exactMatch hgnc:DESI1 semapv:UnspecifiedMatching +OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:24577 semapv:UnspecifiedMatching +OMIM:614637 DESI1 skos:exactMatch hgnc.symbol:DESI1 semapv:UnspecifiedMatching OMIM:614637 DESI1 skos:exactMatch ncbigene:27351 semapv:UnspecifiedMatching -OMIM:614638 DESI2 skos:exactMatch hgnc:DESI2 semapv:UnspecifiedMatching +OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:24264 semapv:UnspecifiedMatching +OMIM:614638 DESI2 skos:exactMatch hgnc.symbol:DESI2 semapv:UnspecifiedMatching OMIM:614638 DESI2 skos:exactMatch ncbigene:51029 semapv:UnspecifiedMatching -OMIM:614639 ZBTB46 skos:exactMatch hgnc:ZBTB46 semapv:UnspecifiedMatching +OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:16094 semapv:UnspecifiedMatching +OMIM:614639 ZBTB46 skos:exactMatch hgnc.symbol:ZBTB46 semapv:UnspecifiedMatching OMIM:614639 ZBTB46 skos:exactMatch ncbigene:140685 semapv:UnspecifiedMatching -OMIM:614641 LAMP5 skos:exactMatch hgnc:LAMP5 semapv:UnspecifiedMatching +OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:16097 semapv:UnspecifiedMatching +OMIM:614641 LAMP5 skos:exactMatch hgnc.symbol:LAMP5 semapv:UnspecifiedMatching OMIM:614641 LAMP5 skos:exactMatch ncbigene:24141 semapv:UnspecifiedMatching -OMIM:614642 STARD9 skos:exactMatch hgnc:STARD9 semapv:UnspecifiedMatching +OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:19162 semapv:UnspecifiedMatching +OMIM:614642 STARD9 skos:exactMatch hgnc.symbol:STARD9 semapv:UnspecifiedMatching OMIM:614642 STARD9 skos:exactMatch ncbigene:57519 semapv:UnspecifiedMatching +OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching -OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 skos:exactMatch orphanet.ordo:899 semapv:UnspecifiedMatching -OMIM:614647 COQ6 skos:exactMatch hgnc:COQ6 semapv:UnspecifiedMatching +OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:20233 semapv:UnspecifiedMatching +OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:COQ6 semapv:UnspecifiedMatching OMIM:614647 COQ6 skos:exactMatch ncbigene:51004 semapv:UnspecifiedMatching -OMIM:614648 RALYL skos:exactMatch hgnc:RALYL semapv:UnspecifiedMatching +OMIM:614648 RALYL skos:exactMatch hgnc.symbol:27036 semapv:UnspecifiedMatching +OMIM:614648 RALYL skos:exactMatch hgnc.symbol:RALYL semapv:UnspecifiedMatching OMIM:614648 RALYL skos:exactMatch ncbigene:138046 semapv:UnspecifiedMatching -OMIM:614649 RNF170 skos:exactMatch hgnc:RNF170 semapv:UnspecifiedMatching +OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:25358 semapv:UnspecifiedMatching +OMIM:614649 RNF170 skos:exactMatch hgnc.symbol:RNF170 semapv:UnspecifiedMatching OMIM:614649 RNF170 skos:exactMatch ncbigene:81790 semapv:UnspecifiedMatching +OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch Orphanet:280406 semapv:UnspecifiedMatching OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch UMLS:C3553349 semapv:UnspecifiedMatching -OMIM:614650 coenzyme Q10 deficiency, primary, 6 skos:exactMatch orphanet.ordo:280406 semapv:UnspecifiedMatching -OMIM:614656 PALD1 skos:exactMatch hgnc:PALD1 semapv:UnspecifiedMatching +OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:23530 semapv:UnspecifiedMatching +OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:PALD1 semapv:UnspecifiedMatching OMIM:614656 PALD1 skos:exactMatch ncbigene:27143 semapv:UnspecifiedMatching -OMIM:614657 AMOTL1 skos:exactMatch hgnc:AMOTL1 semapv:UnspecifiedMatching +OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:17811 semapv:UnspecifiedMatching +OMIM:614657 AMOTL1 skos:exactMatch hgnc.symbol:AMOTL1 semapv:UnspecifiedMatching OMIM:614657 AMOTL1 skos:exactMatch ncbigene:154810 semapv:UnspecifiedMatching -OMIM:614658 AMOTL2 skos:exactMatch hgnc:AMOTL2 semapv:UnspecifiedMatching +OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:17812 semapv:UnspecifiedMatching +OMIM:614658 AMOTL2 skos:exactMatch hgnc.symbol:AMOTL2 semapv:UnspecifiedMatching OMIM:614658 AMOTL2 skos:exactMatch ncbigene:51421 semapv:UnspecifiedMatching -OMIM:614659 AMER2 skos:exactMatch hgnc:AMER2 semapv:UnspecifiedMatching +OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:26360 semapv:UnspecifiedMatching +OMIM:614659 AMER2 skos:exactMatch hgnc.symbol:AMER2 semapv:UnspecifiedMatching OMIM:614659 AMER2 skos:exactMatch ncbigene:219287 semapv:UnspecifiedMatching -OMIM:614660 PATL1 skos:exactMatch hgnc:PATL1 semapv:UnspecifiedMatching +OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:26721 semapv:UnspecifiedMatching +OMIM:614660 PATL1 skos:exactMatch hgnc.symbol:PATL1 semapv:UnspecifiedMatching OMIM:614660 PATL1 skos:exactMatch ncbigene:219988 semapv:UnspecifiedMatching -OMIM:614661 PATL2 skos:exactMatch hgnc:PATL2 semapv:UnspecifiedMatching +OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:33630 semapv:UnspecifiedMatching +OMIM:614661 PATL2 skos:exactMatch hgnc.symbol:PATL2 semapv:UnspecifiedMatching OMIM:614661 PATL2 skos:exactMatch ncbigene:197135 semapv:UnspecifiedMatching OMIM:614663 RALY skos:exactMatch UMLS:C1423833 semapv:UnspecifiedMatching -OMIM:614663 RALY skos:exactMatch hgnc:RALY semapv:UnspecifiedMatching +OMIM:614663 RALY skos:exactMatch hgnc.symbol:15921 semapv:UnspecifiedMatching +OMIM:614663 RALY skos:exactMatch hgnc.symbol:RALY semapv:UnspecifiedMatching OMIM:614663 RALY skos:exactMatch ncbigene:22913 semapv:UnspecifiedMatching -OMIM:614664 TREML4 skos:exactMatch hgnc:TREML4 semapv:UnspecifiedMatching +OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:30807 semapv:UnspecifiedMatching +OMIM:614664 TREML4 skos:exactMatch hgnc.symbol:TREML4 semapv:UnspecifiedMatching OMIM:614664 TREML4 skos:exactMatch ncbigene:285852 semapv:UnspecifiedMatching -OMIM:614666 CCDC78 skos:exactMatch hgnc:CCDC78 semapv:UnspecifiedMatching +OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:14153 semapv:UnspecifiedMatching +OMIM:614666 CCDC78 skos:exactMatch hgnc.symbol:CCDC78 semapv:UnspecifiedMatching OMIM:614666 CCDC78 skos:exactMatch ncbigene:124093 semapv:UnspecifiedMatching -OMIM:614667 MTO1 skos:exactMatch hgnc:MTO1 semapv:UnspecifiedMatching +OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:19261 semapv:UnspecifiedMatching +OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:MTO1 semapv:UnspecifiedMatching OMIM:614667 MTO1 skos:exactMatch ncbigene:25821 semapv:UnspecifiedMatching +OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 semapv:UnspecifiedMatching OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553407 semapv:UnspecifiedMatching OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch UMLS:C3553408 semapv:UnspecifiedMatching -OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch orphanet.ordo:370079 semapv:UnspecifiedMatching +OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch UMLS:C3808553 semapv:UnspecifiedMatching -OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch orphanet.ordo:314399 semapv:UnspecifiedMatching -OMIM:614677 CCDC103 skos:exactMatch hgnc:CCDC103 semapv:UnspecifiedMatching +OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:32700 semapv:UnspecifiedMatching +OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:CCDC103 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch ncbigene:388389 semapv:UnspecifiedMatching -OMIM:614681 AGPHD1 skos:exactMatch hgnc:HYKK semapv:UnspecifiedMatching +OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:34403 semapv:UnspecifiedMatching +OMIM:614681 AGPHD1 skos:exactMatch hgnc.symbol:HYKK semapv:UnspecifiedMatching OMIM:614681 AGPHD1 skos:exactMatch ncbigene:123688 semapv:UnspecifiedMatching -OMIM:614682 AGXT2L1 skos:exactMatch hgnc:ETNPPL semapv:UnspecifiedMatching +OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:14404 semapv:UnspecifiedMatching +OMIM:614682 AGXT2L1 skos:exactMatch hgnc.symbol:ETNPPL semapv:UnspecifiedMatching OMIM:614682 AGXT2L1 skos:exactMatch ncbigene:64850 semapv:UnspecifiedMatching -OMIM:614683 PHYKPL skos:exactMatch hgnc:PHYKPL semapv:UnspecifiedMatching +OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:28249 semapv:UnspecifiedMatching +OMIM:614683 PHYKPL skos:exactMatch hgnc.symbol:PHYKPL semapv:UnspecifiedMatching OMIM:614683 PHYKPL skos:exactMatch ncbigene:85007 semapv:UnspecifiedMatching -OMIM:614685 ZNF597 skos:exactMatch hgnc:ZNF597 semapv:UnspecifiedMatching +OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:26573 semapv:UnspecifiedMatching +OMIM:614685 ZNF597 skos:exactMatch hgnc.symbol:ZNF597 semapv:UnspecifiedMatching OMIM:614685 ZNF597 skos:exactMatch ncbigene:146434 semapv:UnspecifiedMatching -OMIM:614686 FAM50B skos:exactMatch hgnc:FAM50B semapv:UnspecifiedMatching +OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:18789 semapv:UnspecifiedMatching +OMIM:614686 FAM50B skos:exactMatch hgnc.symbol:FAM50B semapv:UnspecifiedMatching OMIM:614686 FAM50B skos:exactMatch ncbigene:26240 semapv:UnspecifiedMatching -OMIM:614690 C4ORF48 skos:exactMatch hgnc:NICOL1 semapv:UnspecifiedMatching +OMIM:614690 C4ORF48 skos:exactMatch hgnc.symbol:NICOL1 semapv:UnspecifiedMatching OMIM:614690 C4ORF48 skos:exactMatch ncbigene:401115 semapv:UnspecifiedMatching -OMIM:614693 ATMIN skos:exactMatch hgnc:ATMIN semapv:UnspecifiedMatching +OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:29034 semapv:UnspecifiedMatching +OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:ATMIN semapv:UnspecifiedMatching OMIM:614693 ATMIN skos:exactMatch ncbigene:23300 semapv:UnspecifiedMatching -OMIM:614694 RPRD1B skos:exactMatch hgnc:RPRD1B semapv:UnspecifiedMatching +OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:16209 semapv:UnspecifiedMatching +OMIM:614694 RPRD1B skos:exactMatch hgnc.symbol:RPRD1B semapv:UnspecifiedMatching OMIM:614694 RPRD1B skos:exactMatch ncbigene:58490 semapv:UnspecifiedMatching -OMIM:614695 RPRD2 skos:exactMatch hgnc:RPRD2 semapv:UnspecifiedMatching +OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:29039 semapv:UnspecifiedMatching +OMIM:614695 RPRD2 skos:exactMatch hgnc.symbol:RPRD2 semapv:UnspecifiedMatching OMIM:614695 RPRD2 skos:exactMatch ncbigene:23248 semapv:UnspecifiedMatching -OMIM:614697 KATNAL2 skos:exactMatch hgnc:KATNAL2 semapv:UnspecifiedMatching +OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:25387 semapv:UnspecifiedMatching +OMIM:614697 KATNAL2 skos:exactMatch hgnc.symbol:KATNAL2 semapv:UnspecifiedMatching OMIM:614697 KATNAL2 skos:exactMatch ncbigene:83473 semapv:UnspecifiedMatching OMIM:614698 COX20 skos:exactMatch UMLS:C3469918 semapv:UnspecifiedMatching OMIM:614698 COX20 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching -OMIM:614698 COX20 skos:exactMatch hgnc:COX20 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch hgnc.symbol:26970 semapv:UnspecifiedMatching +OMIM:614698 COX20 skos:exactMatch hgnc.symbol:COX20 semapv:UnspecifiedMatching OMIM:614698 COX20 skos:exactMatch ncbigene:116228 semapv:UnspecifiedMatching +OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch UMLS:C3553517 semapv:UnspecifiedMatching -OMIM:614701 cornelia lange lange syndrome 4 with or without midline brain defects skos:exactMatch orphanet.ordo:199 semapv:UnspecifiedMatching +OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch Orphanet:314637 semapv:UnspecifiedMatching OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch UMLS:C3553529 semapv:UnspecifiedMatching -OMIM:614702 combined oxidative phosphorylation deficiency 10 skos:exactMatch orphanet.ordo:314637 semapv:UnspecifiedMatching -OMIM:614703 SRGAP2B skos:exactMatch hgnc:SRGAP2B semapv:UnspecifiedMatching +OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:35237 semapv:UnspecifiedMatching +OMIM:614703 SRGAP2B skos:exactMatch hgnc.symbol:SRGAP2B semapv:UnspecifiedMatching OMIM:614703 SRGAP2B skos:exactMatch ncbigene:647135 semapv:UnspecifiedMatching -OMIM:614704 SRGAP2C skos:exactMatch hgnc:SRGAP2C semapv:UnspecifiedMatching +OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:30584 semapv:UnspecifiedMatching +OMIM:614704 SRGAP2C skos:exactMatch hgnc.symbol:SRGAP2C semapv:UnspecifiedMatching OMIM:614704 SRGAP2C skos:exactMatch ncbigene:653464 semapv:UnspecifiedMatching -OMIM:614705 SRGAP2D skos:exactMatch hgnc:SRGAP2D semapv:UnspecifiedMatching +OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:43932 semapv:UnspecifiedMatching +OMIM:614705 SRGAP2D skos:exactMatch hgnc.symbol:SRGAP2D semapv:UnspecifiedMatching OMIM:614705 SRGAP2D skos:exactMatch ncbigene:100996712 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:572550 semapv:UnspecifiedMatching +OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch Orphanet:97229 semapv:UnspecifiedMatching OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch UMLS:C3553538 semapv:UnspecifiedMatching -OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch orphanet.ordo:572550 semapv:UnspecifiedMatching -OMIM:614707 brown-vialetto-van laere syndrome 2 skos:exactMatch orphanet.ordo:97229 semapv:UnspecifiedMatching -OMIM:614708 SCUBE3 skos:exactMatch hgnc:SCUBE3 semapv:UnspecifiedMatching +OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:13655 semapv:UnspecifiedMatching +OMIM:614708 SCUBE3 skos:exactMatch hgnc.symbol:SCUBE3 semapv:UnspecifiedMatching OMIM:614708 SCUBE3 skos:exactMatch ncbigene:222663 semapv:UnspecifiedMatching -OMIM:614709 LYRM1 skos:exactMatch hgnc:LYRM1 semapv:UnspecifiedMatching +OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:25074 semapv:UnspecifiedMatching +OMIM:614709 LYRM1 skos:exactMatch hgnc.symbol:LYRM1 semapv:UnspecifiedMatching OMIM:614709 LYRM1 skos:exactMatch ncbigene:57149 semapv:UnspecifiedMatching -OMIM:614710 FAM72A skos:exactMatch hgnc:FAM72A semapv:UnspecifiedMatching +OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:24044 semapv:UnspecifiedMatching +OMIM:614710 FAM72A skos:exactMatch hgnc.symbol:FAM72A semapv:UnspecifiedMatching OMIM:614710 FAM72A skos:exactMatch ncbigene:729533 semapv:UnspecifiedMatching -OMIM:614711 FAM72B skos:exactMatch hgnc:FAM72B semapv:UnspecifiedMatching +OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:24805 semapv:UnspecifiedMatching +OMIM:614711 FAM72B skos:exactMatch hgnc.symbol:FAM72B semapv:UnspecifiedMatching OMIM:614711 FAM72B skos:exactMatch ncbigene:653820 semapv:UnspecifiedMatching -OMIM:614712 FAM72D skos:exactMatch hgnc:FAM72D semapv:UnspecifiedMatching +OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:33593 semapv:UnspecifiedMatching +OMIM:614712 FAM72D skos:exactMatch hgnc.symbol:FAM72D semapv:UnspecifiedMatching OMIM:614712 FAM72D skos:exactMatch ncbigene:728833 semapv:UnspecifiedMatching -OMIM:614713 RASSF10 skos:exactMatch hgnc:RASSF10 semapv:UnspecifiedMatching +OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:33984 semapv:UnspecifiedMatching +OMIM:614713 RASSF10 skos:exactMatch hgnc.symbol:RASSF10 semapv:UnspecifiedMatching OMIM:614713 RASSF10 skos:exactMatch ncbigene:644943 semapv:UnspecifiedMatching -OMIM:614715 TMIGD2 skos:exactMatch hgnc:TMIGD2 semapv:UnspecifiedMatching +OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:28324 semapv:UnspecifiedMatching +OMIM:614715 TMIGD2 skos:exactMatch hgnc.symbol:TMIGD2 semapv:UnspecifiedMatching OMIM:614715 TMIGD2 skos:exactMatch ncbigene:126259 semapv:UnspecifiedMatching -OMIM:614716 CARMIL3 skos:exactMatch hgnc:CARMIL3 semapv:UnspecifiedMatching +OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:20272 semapv:UnspecifiedMatching +OMIM:614716 CARMIL3 skos:exactMatch hgnc.symbol:CARMIL3 semapv:UnspecifiedMatching OMIM:614716 CARMIL3 skos:exactMatch ncbigene:90668 semapv:UnspecifiedMatching -OMIM:614717 ANAPC15 skos:exactMatch hgnc:ANAPC15 semapv:UnspecifiedMatching +OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:24531 semapv:UnspecifiedMatching +OMIM:614717 ANAPC15 skos:exactMatch hgnc.symbol:ANAPC15 semapv:UnspecifiedMatching OMIM:614717 ANAPC15 skos:exactMatch ncbigene:25906 semapv:UnspecifiedMatching -OMIM:614718 KNSTRN skos:exactMatch hgnc:KNSTRN semapv:UnspecifiedMatching +OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:30767 semapv:UnspecifiedMatching +OMIM:614718 KNSTRN skos:exactMatch hgnc.symbol:KNSTRN semapv:UnspecifiedMatching OMIM:614718 KNSTRN skos:exactMatch ncbigene:90417 semapv:UnspecifiedMatching -OMIM:614719 KCMF1 skos:exactMatch hgnc:KCMF1 semapv:UnspecifiedMatching +OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:20589 semapv:UnspecifiedMatching +OMIM:614719 KCMF1 skos:exactMatch hgnc.symbol:KCMF1 semapv:UnspecifiedMatching OMIM:614719 KCMF1 skos:exactMatch ncbigene:56888 semapv:UnspecifiedMatching OMIM:614720 CDK19 skos:exactMatch UMLS:C1540298 semapv:UnspecifiedMatching OMIM:614720 CDK19 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching -OMIM:614720 CDK19 skos:exactMatch hgnc:CDK19 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:19338 semapv:UnspecifiedMatching +OMIM:614720 CDK19 skos:exactMatch hgnc.symbol:CDK19 semapv:UnspecifiedMatching OMIM:614720 CDK19 skos:exactMatch ncbigene:23097 semapv:UnspecifiedMatching -OMIM:614721 TSPYL5 skos:exactMatch hgnc:TSPYL5 semapv:UnspecifiedMatching +OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:29367 semapv:UnspecifiedMatching +OMIM:614721 TSPYL5 skos:exactMatch hgnc.symbol:TSPYL5 semapv:UnspecifiedMatching OMIM:614721 TSPYL5 skos:exactMatch ncbigene:85453 semapv:UnspecifiedMatching -OMIM:614722 MIR3120 skos:exactMatch hgnc:MIR3120 semapv:UnspecifiedMatching +OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:38295 semapv:UnspecifiedMatching +OMIM:614722 MIR3120 skos:exactMatch hgnc.symbol:MIR3120 semapv:UnspecifiedMatching OMIM:614722 MIR3120 skos:exactMatch ncbigene:100422882 semapv:UnspecifiedMatching -OMIM:614724 CEP63 skos:exactMatch hgnc:CEP63 semapv:UnspecifiedMatching +OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:25815 semapv:UnspecifiedMatching +OMIM:614724 CEP63 skos:exactMatch hgnc.symbol:CEP63 semapv:UnspecifiedMatching OMIM:614724 CEP63 skos:exactMatch ncbigene:80254 semapv:UnspecifiedMatching -OMIM:614725 SERAC1 skos:exactMatch hgnc:SERAC1 semapv:UnspecifiedMatching +OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:21061 semapv:UnspecifiedMatching +OMIM:614725 SERAC1 skos:exactMatch hgnc.symbol:SERAC1 semapv:UnspecifiedMatching OMIM:614725 SERAC1 skos:exactMatch ncbigene:84947 semapv:UnspecifiedMatching -OMIM:614726 TMEM165 skos:exactMatch hgnc:TMEM165 semapv:UnspecifiedMatching +OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:30760 semapv:UnspecifiedMatching +OMIM:614726 TMEM165 skos:exactMatch hgnc.symbol:TMEM165 semapv:UnspecifiedMatching OMIM:614726 TMEM165 skos:exactMatch ncbigene:55858 semapv:UnspecifiedMatching -OMIM:614729 COPS6 skos:exactMatch hgnc:COPS6 semapv:UnspecifiedMatching +OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:21749 semapv:UnspecifiedMatching +OMIM:614729 COPS6 skos:exactMatch hgnc.symbol:COPS6 semapv:UnspecifiedMatching OMIM:614729 COPS6 skos:exactMatch ncbigene:10980 semapv:UnspecifiedMatching -OMIM:614730 PIGO skos:exactMatch hgnc:PIGO semapv:UnspecifiedMatching +OMIM:614730 PIGO skos:exactMatch hgnc.symbol:23215 semapv:UnspecifiedMatching +OMIM:614730 PIGO skos:exactMatch hgnc.symbol:PIGO semapv:UnspecifiedMatching OMIM:614730 PIGO skos:exactMatch ncbigene:84720 semapv:UnspecifiedMatching -OMIM:614733 MIR193A skos:exactMatch hgnc:MIR193A semapv:UnspecifiedMatching +OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:31563 semapv:UnspecifiedMatching +OMIM:614733 MIR193A skos:exactMatch hgnc.symbol:MIR193A semapv:UnspecifiedMatching OMIM:614733 MIR193A skos:exactMatch ncbigene:406968 semapv:UnspecifiedMatching -OMIM:614734 MIR193B skos:exactMatch hgnc:MIR193B semapv:UnspecifiedMatching +OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:32087 semapv:UnspecifiedMatching +OMIM:614734 MIR193B skos:exactMatch hgnc.symbol:MIR193B semapv:UnspecifiedMatching OMIM:614734 MIR193B skos:exactMatch ncbigene:574455 semapv:UnspecifiedMatching -OMIM:614735 MIR365A skos:exactMatch hgnc:MIR365A semapv:UnspecifiedMatching +OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:33692 semapv:UnspecifiedMatching +OMIM:614735 MIR365A skos:exactMatch hgnc.symbol:MIR365A semapv:UnspecifiedMatching OMIM:614735 MIR365A skos:exactMatch ncbigene:100126355 semapv:UnspecifiedMatching -OMIM:614737 MPC2 skos:exactMatch hgnc:MPC2 semapv:UnspecifiedMatching +OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:24515 semapv:UnspecifiedMatching +OMIM:614737 MPC2 skos:exactMatch hgnc.symbol:MPC2 semapv:UnspecifiedMatching OMIM:614737 MPC2 skos:exactMatch ncbigene:25874 semapv:UnspecifiedMatching -OMIM:614738 MPC1 skos:exactMatch hgnc:MPC1 semapv:UnspecifiedMatching +OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:21606 semapv:UnspecifiedMatching +OMIM:614738 MPC1 skos:exactMatch hgnc.symbol:MPC1 semapv:UnspecifiedMatching OMIM:614738 MPC1 skos:exactMatch ncbigene:51660 semapv:UnspecifiedMatching +OMIM:614753 malan syndrome skos:exactMatch Orphanet:420179 semapv:UnspecifiedMatching OMIM:614753 malan syndrome skos:exactMatch UMLS:C3553660 semapv:UnspecifiedMatching -OMIM:614753 malan syndrome skos:exactMatch orphanet.ordo:420179 semapv:UnspecifiedMatching -OMIM:614754 DMRT3 skos:exactMatch hgnc:DMRT3 semapv:UnspecifiedMatching +OMIM:614754 DMRT3 skos:exactMatch hgnc.symbol:13909 semapv:UnspecifiedMatching +OMIM:614754 DMRT3 skos:exactMatch hgnc.symbol:DMRT3 semapv:UnspecifiedMatching OMIM:614754 DMRT3 skos:exactMatch ncbigene:58524 semapv:UnspecifiedMatching -OMIM:614755 MIR520H skos:exactMatch hgnc:MIR520H semapv:UnspecifiedMatching +OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:32125 semapv:UnspecifiedMatching +OMIM:614755 MIR520H skos:exactMatch hgnc.symbol:MIR520H semapv:UnspecifiedMatching OMIM:614755 MIR520H skos:exactMatch ncbigene:574493 semapv:UnspecifiedMatching +OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch Orphanet:314647 semapv:UnspecifiedMatching OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch UMLS:C3553661 semapv:UnspecifiedMatching -OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:exactMatch orphanet.ordo:314647 semapv:UnspecifiedMatching -OMIM:614757 IFITM5 skos:exactMatch hgnc:IFITM5 semapv:UnspecifiedMatching +OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:16644 semapv:UnspecifiedMatching +OMIM:614757 IFITM5 skos:exactMatch hgnc.symbol:IFITM5 semapv:UnspecifiedMatching OMIM:614757 IFITM5 skos:exactMatch ncbigene:387733 semapv:UnspecifiedMatching -OMIM:614758 DCTN4 skos:exactMatch hgnc:DCTN4 semapv:UnspecifiedMatching +OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:15518 semapv:UnspecifiedMatching +OMIM:614758 DCTN4 skos:exactMatch hgnc.symbol:DCTN4 semapv:UnspecifiedMatching OMIM:614758 DCTN4 skos:exactMatch ncbigene:51164 semapv:UnspecifiedMatching -OMIM:614759 CFAP53 skos:exactMatch hgnc:CFAP53 semapv:UnspecifiedMatching +OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:26530 semapv:UnspecifiedMatching +OMIM:614759 CFAP53 skos:exactMatch hgnc.symbol:CFAP53 semapv:UnspecifiedMatching OMIM:614759 CFAP53 skos:exactMatch ncbigene:220136 semapv:UnspecifiedMatching -OMIM:614760 SLC66A1 skos:exactMatch hgnc:SLC66A1 semapv:UnspecifiedMatching +OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:26001 semapv:UnspecifiedMatching +OMIM:614760 SLC66A1 skos:exactMatch hgnc.symbol:SLC66A1 semapv:UnspecifiedMatching OMIM:614760 SLC66A1 skos:exactMatch ncbigene:54896 semapv:UnspecifiedMatching -OMIM:614761 GLYATL1 skos:exactMatch hgnc:GLYATL1 semapv:UnspecifiedMatching +OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:30519 semapv:UnspecifiedMatching +OMIM:614761 GLYATL1 skos:exactMatch hgnc.symbol:GLYATL1 semapv:UnspecifiedMatching OMIM:614761 GLYATL1 skos:exactMatch ncbigene:92292 semapv:UnspecifiedMatching -OMIM:614762 GLYATL2 skos:exactMatch hgnc:GLYATL2 semapv:UnspecifiedMatching +OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:24178 semapv:UnspecifiedMatching +OMIM:614762 GLYATL2 skos:exactMatch hgnc.symbol:GLYATL2 semapv:UnspecifiedMatching OMIM:614762 GLYATL2 skos:exactMatch ncbigene:219970 semapv:UnspecifiedMatching -OMIM:614763 GLYATL3 skos:exactMatch hgnc:GLYATL3 semapv:UnspecifiedMatching +OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:21349 semapv:UnspecifiedMatching +OMIM:614763 GLYATL3 skos:exactMatch hgnc.symbol:GLYATL3 semapv:UnspecifiedMatching OMIM:614763 GLYATL3 skos:exactMatch ncbigene:389396 semapv:UnspecifiedMatching -OMIM:614764 KATNAL1 skos:exactMatch hgnc:KATNAL1 semapv:UnspecifiedMatching +OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:28361 semapv:UnspecifiedMatching +OMIM:614764 KATNAL1 skos:exactMatch hgnc.symbol:KATNAL1 semapv:UnspecifiedMatching OMIM:614764 KATNAL1 skos:exactMatch ncbigene:84056 semapv:UnspecifiedMatching -OMIM:614765 STRN skos:exactMatch hgnc:STRN semapv:UnspecifiedMatching +OMIM:614765 STRN skos:exactMatch hgnc.symbol:11424 semapv:UnspecifiedMatching +OMIM:614765 STRN skos:exactMatch hgnc.symbol:STRN semapv:UnspecifiedMatching OMIM:614765 STRN skos:exactMatch ncbigene:6801 semapv:UnspecifiedMatching -OMIM:614766 STRN3 skos:exactMatch hgnc:STRN3 semapv:UnspecifiedMatching +OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:15720 semapv:UnspecifiedMatching +OMIM:614766 STRN3 skos:exactMatch hgnc.symbol:STRN3 semapv:UnspecifiedMatching OMIM:614766 STRN3 skos:exactMatch ncbigene:29966 semapv:UnspecifiedMatching -OMIM:614767 STRN4 skos:exactMatch hgnc:STRN4 semapv:UnspecifiedMatching +OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:15721 semapv:UnspecifiedMatching +OMIM:614767 STRN4 skos:exactMatch hgnc.symbol:STRN4 semapv:UnspecifiedMatching OMIM:614767 STRN4 skos:exactMatch ncbigene:29888 semapv:UnspecifiedMatching -OMIM:614768 TMEM66 skos:exactMatch hgnc:SARAF semapv:UnspecifiedMatching +OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:28789 semapv:UnspecifiedMatching +OMIM:614768 TMEM66 skos:exactMatch hgnc.symbol:SARAF semapv:UnspecifiedMatching OMIM:614768 TMEM66 skos:exactMatch ncbigene:51669 semapv:UnspecifiedMatching OMIM:614769 COA1 skos:exactMatch UMLS:C1824229 semapv:UnspecifiedMatching -OMIM:614769 COA1 skos:exactMatch hgnc:COA1 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch hgnc.symbol:21868 semapv:UnspecifiedMatching +OMIM:614769 COA1 skos:exactMatch hgnc.symbol:COA1 semapv:UnspecifiedMatching OMIM:614769 COA1 skos:exactMatch ncbigene:55744 semapv:UnspecifiedMatching OMIM:614770 PET100 skos:exactMatch UMLS:C3541664 semapv:UnspecifiedMatching OMIM:614770 PET100 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching -OMIM:614770 PET100 skos:exactMatch hgnc:PET100 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch hgnc.symbol:40038 semapv:UnspecifiedMatching +OMIM:614770 PET100 skos:exactMatch hgnc.symbol:PET100 semapv:UnspecifiedMatching OMIM:614770 PET100 skos:exactMatch ncbigene:100131801 semapv:UnspecifiedMatching OMIM:614771 PET117 skos:exactMatch UMLS:C3471365 semapv:UnspecifiedMatching OMIM:614771 PET117 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching -OMIM:614771 PET117 skos:exactMatch hgnc:PET117 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch hgnc.symbol:40045 semapv:UnspecifiedMatching +OMIM:614771 PET117 skos:exactMatch hgnc.symbol:PET117 semapv:UnspecifiedMatching OMIM:614771 PET117 skos:exactMatch ncbigene:100303755 semapv:UnspecifiedMatching OMIM:614772 COA6 skos:exactMatch UMLS:C1425251 semapv:UnspecifiedMatching OMIM:614772 COA6 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching -OMIM:614772 COA6 skos:exactMatch hgnc:COA6 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch hgnc.symbol:18025 semapv:UnspecifiedMatching +OMIM:614772 COA6 skos:exactMatch hgnc.symbol:COA6 semapv:UnspecifiedMatching OMIM:614772 COA6 skos:exactMatch ncbigene:388753 semapv:UnspecifiedMatching OMIM:614773 MSS51 skos:exactMatch UMLS:C3471123 semapv:UnspecifiedMatching -OMIM:614773 MSS51 skos:exactMatch hgnc:MSS51 semapv:UnspecifiedMatching +OMIM:614773 MSS51 skos:exactMatch hgnc.symbol:21000 semapv:UnspecifiedMatching +OMIM:614773 MSS51 skos:exactMatch hgnc.symbol:MSS51 semapv:UnspecifiedMatching OMIM:614773 MSS51 skos:exactMatch ncbigene:118490 semapv:UnspecifiedMatching -OMIM:614774 PTCD1 skos:exactMatch hgnc:PTCD1 semapv:UnspecifiedMatching +OMIM:614774 PTCD1 skos:exactMatch hgnc.symbol:22198 semapv:UnspecifiedMatching +OMIM:614774 PTCD1 skos:exactMatch hgnc.symbol:PTCD1 semapv:UnspecifiedMatching OMIM:614774 PTCD1 skos:exactMatch ncbigene:26024 semapv:UnspecifiedMatching OMIM:614775 COA3 skos:exactMatch UMLS:C1824580 semapv:UnspecifiedMatching OMIM:614775 COA3 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching -OMIM:614775 COA3 skos:exactMatch hgnc:COA3 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch hgnc.symbol:24990 semapv:UnspecifiedMatching +OMIM:614775 COA3 skos:exactMatch hgnc.symbol:COA3 semapv:UnspecifiedMatching OMIM:614775 COA3 skos:exactMatch ncbigene:28958 semapv:UnspecifiedMatching OMIM:614776 SIK3 skos:exactMatch UMLS:C2828701 semapv:UnspecifiedMatching OMIM:614776 SIK3 skos:exactMatch UMLS:C4748455 semapv:UnspecifiedMatching -OMIM:614776 SIK3 skos:exactMatch hgnc:SIK3 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:29165 semapv:UnspecifiedMatching +OMIM:614776 SIK3 skos:exactMatch hgnc.symbol:SIK3 semapv:UnspecifiedMatching OMIM:614776 SIK3 skos:exactMatch ncbigene:23387 semapv:UnspecifiedMatching -OMIM:614777 MMS19 skos:exactMatch hgnc:MMS19 semapv:UnspecifiedMatching +OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:13824 semapv:UnspecifiedMatching +OMIM:614777 MMS19 skos:exactMatch hgnc.symbol:MMS19 semapv:UnspecifiedMatching OMIM:614777 MMS19 skos:exactMatch ncbigene:64210 semapv:UnspecifiedMatching -OMIM:614778 CIAO2B skos:exactMatch hgnc:CIAO2B semapv:UnspecifiedMatching +OMIM:614778 CIAO2B skos:exactMatch hgnc.symbol:24261 semapv:UnspecifiedMatching +OMIM:614778 CIAO2B skos:exactMatch hgnc.symbol:CIAO2B semapv:UnspecifiedMatching OMIM:614778 CIAO2B skos:exactMatch ncbigene:51647 semapv:UnspecifiedMatching -OMIM:614780 SNX10 skos:exactMatch hgnc:SNX10 semapv:UnspecifiedMatching +OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:14974 semapv:UnspecifiedMatching +OMIM:614780 SNX10 skos:exactMatch hgnc.symbol:SNX10 semapv:UnspecifiedMatching OMIM:614780 SNX10 skos:exactMatch ncbigene:29887 semapv:UnspecifiedMatching -OMIM:614781 TECPR1 skos:exactMatch hgnc:TECPR1 semapv:UnspecifiedMatching +OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:22214 semapv:UnspecifiedMatching +OMIM:614781 TECPR1 skos:exactMatch hgnc.symbol:TECPR1 semapv:UnspecifiedMatching OMIM:614781 TECPR1 skos:exactMatch ncbigene:25851 semapv:UnspecifiedMatching -OMIM:614783 POC1A skos:exactMatch hgnc:POC1A semapv:UnspecifiedMatching +OMIM:614783 POC1A skos:exactMatch hgnc.symbol:24488 semapv:UnspecifiedMatching +OMIM:614783 POC1A skos:exactMatch hgnc.symbol:POC1A semapv:UnspecifiedMatching OMIM:614783 POC1A skos:exactMatch ncbigene:25886 semapv:UnspecifiedMatching -OMIM:614784 POC1B skos:exactMatch hgnc:POC1B semapv:UnspecifiedMatching +OMIM:614784 POC1B skos:exactMatch hgnc.symbol:30836 semapv:UnspecifiedMatching +OMIM:614784 POC1B skos:exactMatch hgnc.symbol:POC1B semapv:UnspecifiedMatching OMIM:614784 POC1B skos:exactMatch ncbigene:282809 semapv:UnspecifiedMatching -OMIM:614785 MFF skos:exactMatch hgnc:MFF semapv:UnspecifiedMatching +OMIM:614785 MFF skos:exactMatch hgnc.symbol:24858 semapv:UnspecifiedMatching +OMIM:614785 MFF skos:exactMatch hgnc.symbol:MFF semapv:UnspecifiedMatching OMIM:614785 MFF skos:exactMatch ncbigene:56947 semapv:UnspecifiedMatching -OMIM:614786 TMEM207 skos:exactMatch hgnc:TMEM207 semapv:UnspecifiedMatching +OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:33705 semapv:UnspecifiedMatching +OMIM:614786 TMEM207 skos:exactMatch hgnc.symbol:TMEM207 semapv:UnspecifiedMatching OMIM:614786 TMEM207 skos:exactMatch ncbigene:131920 semapv:UnspecifiedMatching -OMIM:614787 POGZ skos:exactMatch hgnc:POGZ semapv:UnspecifiedMatching +OMIM:614787 POGZ skos:exactMatch hgnc.symbol:18801 semapv:UnspecifiedMatching +OMIM:614787 POGZ skos:exactMatch hgnc.symbol:POGZ semapv:UnspecifiedMatching OMIM:614787 POGZ skos:exactMatch ncbigene:23126 semapv:UnspecifiedMatching -OMIM:614788 FGD5 skos:exactMatch hgnc:FGD5 semapv:UnspecifiedMatching +OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:19117 semapv:UnspecifiedMatching +OMIM:614788 FGD5 skos:exactMatch hgnc.symbol:FGD5 semapv:UnspecifiedMatching OMIM:614788 FGD5 skos:exactMatch ncbigene:152273 semapv:UnspecifiedMatching OMIM:614789 EOGT skos:exactMatch UMLS:C1824159 semapv:UnspecifiedMatching OMIM:614789 EOGT skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching -OMIM:614789 EOGT skos:exactMatch hgnc:EOGT semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch hgnc.symbol:28526 semapv:UnspecifiedMatching +OMIM:614789 EOGT skos:exactMatch hgnc.symbol:EOGT semapv:UnspecifiedMatching OMIM:614789 EOGT skos:exactMatch ncbigene:285203 semapv:UnspecifiedMatching -OMIM:614790 WTIP skos:exactMatch hgnc:WTIP semapv:UnspecifiedMatching +OMIM:614790 WTIP skos:exactMatch hgnc.symbol:20964 semapv:UnspecifiedMatching +OMIM:614790 WTIP skos:exactMatch hgnc.symbol:WTIP semapv:UnspecifiedMatching OMIM:614790 WTIP skos:exactMatch ncbigene:126374 semapv:UnspecifiedMatching -OMIM:614791 MIR199B skos:exactMatch hgnc:MIR199B semapv:UnspecifiedMatching +OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:31573 semapv:UnspecifiedMatching +OMIM:614791 MIR199B skos:exactMatch hgnc.symbol:MIR199B semapv:UnspecifiedMatching OMIM:614791 MIR199B skos:exactMatch ncbigene:406978 semapv:UnspecifiedMatching -OMIM:614792 TMUB1 skos:exactMatch hgnc:TMUB1 semapv:UnspecifiedMatching +OMIM:614792 TMUB1 skos:exactMatch hgnc.symbol:21709 semapv:UnspecifiedMatching +OMIM:614792 TMUB1 skos:exactMatch hgnc.symbol:TMUB1 semapv:UnspecifiedMatching OMIM:614792 TMUB1 skos:exactMatch ncbigene:83590 semapv:UnspecifiedMatching -OMIM:614793 MAP3K21 skos:exactMatch hgnc:MAP3K21 semapv:UnspecifiedMatching +OMIM:614793 MAP3K21 skos:exactMatch hgnc.symbol:29798 semapv:UnspecifiedMatching +OMIM:614793 MAP3K21 skos:exactMatch hgnc.symbol:MAP3K21 semapv:UnspecifiedMatching OMIM:614793 MAP3K21 skos:exactMatch ncbigene:84451 semapv:UnspecifiedMatching -OMIM:614794 AGPAT3 skos:exactMatch hgnc:AGPAT3 semapv:UnspecifiedMatching +OMIM:614794 AGPAT3 skos:exactMatch hgnc.symbol:326 semapv:UnspecifiedMatching +OMIM:614794 AGPAT3 skos:exactMatch hgnc.symbol:AGPAT3 semapv:UnspecifiedMatching OMIM:614794 AGPAT3 skos:exactMatch ncbigene:56894 semapv:UnspecifiedMatching -OMIM:614795 AGPAT4 skos:exactMatch hgnc:AGPAT4 semapv:UnspecifiedMatching +OMIM:614795 AGPAT4 skos:exactMatch hgnc.symbol:20885 semapv:UnspecifiedMatching +OMIM:614795 AGPAT4 skos:exactMatch hgnc.symbol:AGPAT4 semapv:UnspecifiedMatching OMIM:614795 AGPAT4 skos:exactMatch ncbigene:56895 semapv:UnspecifiedMatching -OMIM:614796 AGPAT5 skos:exactMatch hgnc:AGPAT5 semapv:UnspecifiedMatching +OMIM:614796 AGPAT5 skos:exactMatch hgnc.symbol:20886 semapv:UnspecifiedMatching +OMIM:614796 AGPAT5 skos:exactMatch hgnc.symbol:AGPAT5 semapv:UnspecifiedMatching OMIM:614796 AGPAT5 skos:exactMatch ncbigene:55326 semapv:UnspecifiedMatching OMIM:614797 PELI1 skos:exactMatch UMLS:C1418453 semapv:UnspecifiedMatching -OMIM:614797 PELI1 skos:exactMatch hgnc:PELI1 semapv:UnspecifiedMatching +OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:8827 semapv:UnspecifiedMatching +OMIM:614797 PELI1 skos:exactMatch hgnc.symbol:PELI1 semapv:UnspecifiedMatching OMIM:614797 PELI1 skos:exactMatch ncbigene:57162 semapv:UnspecifiedMatching OMIM:614798 PELI2 skos:exactMatch UMLS:C1418454 semapv:UnspecifiedMatching -OMIM:614798 PELI2 skos:exactMatch hgnc:PELI2 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:8828 semapv:UnspecifiedMatching +OMIM:614798 PELI2 skos:exactMatch hgnc.symbol:PELI2 semapv:UnspecifiedMatching OMIM:614798 PELI2 skos:exactMatch ncbigene:57161 semapv:UnspecifiedMatching -OMIM:614799 AIRIM skos:exactMatch hgnc:AIRIM semapv:UnspecifiedMatching +OMIM:614799 AIRIM skos:exactMatch hgnc.symbol:AIRIM semapv:UnspecifiedMatching OMIM:614799 AIRIM skos:exactMatch ncbigene:54955 semapv:UnspecifiedMatching -OMIM:614801 MSL1 skos:exactMatch hgnc:MSL1 semapv:UnspecifiedMatching +OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:27905 semapv:UnspecifiedMatching +OMIM:614801 MSL1 skos:exactMatch hgnc.symbol:MSL1 semapv:UnspecifiedMatching OMIM:614801 MSL1 skos:exactMatch ncbigene:339287 semapv:UnspecifiedMatching -OMIM:614802 MSL2 skos:exactMatch hgnc:MSL2 semapv:UnspecifiedMatching +OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:25544 semapv:UnspecifiedMatching +OMIM:614802 MSL2 skos:exactMatch hgnc.symbol:MSL2 semapv:UnspecifiedMatching OMIM:614802 MSL2 skos:exactMatch ncbigene:55167 semapv:UnspecifiedMatching -OMIM:614803 DMRTA1 skos:exactMatch hgnc:DMRTA1 semapv:UnspecifiedMatching +OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:13826 semapv:UnspecifiedMatching +OMIM:614803 DMRTA1 skos:exactMatch hgnc.symbol:DMRTA1 semapv:UnspecifiedMatching OMIM:614803 DMRTA1 skos:exactMatch ncbigene:63951 semapv:UnspecifiedMatching OMIM:614804 DMRTA2 skos:exactMatch UMLS:C1422262 semapv:UnspecifiedMatching -OMIM:614804 DMRTA2 skos:exactMatch hgnc:DMRTA2 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:13908 semapv:UnspecifiedMatching +OMIM:614804 DMRTA2 skos:exactMatch hgnc.symbol:DMRTA2 semapv:UnspecifiedMatching OMIM:614804 DMRTA2 skos:exactMatch ncbigene:63950 semapv:UnspecifiedMatching -OMIM:614805 DMRTB1 skos:exactMatch hgnc:DMRTB1 semapv:UnspecifiedMatching +OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:13913 semapv:UnspecifiedMatching +OMIM:614805 DMRTB1 skos:exactMatch hgnc.symbol:DMRTB1 semapv:UnspecifiedMatching OMIM:614805 DMRTB1 skos:exactMatch ncbigene:63948 semapv:UnspecifiedMatching -OMIM:614806 DMRTC2 skos:exactMatch hgnc:DMRTC2 semapv:UnspecifiedMatching +OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:13911 semapv:UnspecifiedMatching +OMIM:614806 DMRTC2 skos:exactMatch hgnc.symbol:DMRTC2 semapv:UnspecifiedMatching OMIM:614806 DMRTC2 skos:exactMatch ncbigene:63946 semapv:UnspecifiedMatching OMIM:614810 multiple sclerosis, susceptibility to, 5 skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching -OMIM:614811 L3HYPDH skos:exactMatch hgnc:L3HYPDH semapv:UnspecifiedMatching +OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:20488 semapv:UnspecifiedMatching +OMIM:614811 L3HYPDH skos:exactMatch hgnc.symbol:L3HYPDH semapv:UnspecifiedMatching OMIM:614811 L3HYPDH skos:exactMatch ncbigene:112849 semapv:UnspecifiedMatching -OMIM:614812 NUPR1 skos:exactMatch hgnc:NUPR1 semapv:UnspecifiedMatching +OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:29990 semapv:UnspecifiedMatching +OMIM:614812 NUPR1 skos:exactMatch hgnc.symbol:NUPR1 semapv:UnspecifiedMatching OMIM:614812 NUPR1 skos:exactMatch ncbigene:26471 semapv:UnspecifiedMatching +OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch Orphanet:401996 semapv:UnspecifiedMatching OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch UMLS:C3553774 semapv:UnspecifiedMatching -OMIM:614817 interstitial nephritis, karyomegalic skos:exactMatch orphanet.ordo:401996 semapv:UnspecifiedMatching OMIM:614818 FRY skos:exactMatch UMLS:C1825319 semapv:UnspecifiedMatching -OMIM:614818 FRY skos:exactMatch hgnc:FRY semapv:UnspecifiedMatching +OMIM:614818 FRY skos:exactMatch hgnc.symbol:20367 semapv:UnspecifiedMatching +OMIM:614818 FRY skos:exactMatch hgnc.symbol:FRY semapv:UnspecifiedMatching OMIM:614818 FRY skos:exactMatch ncbigene:10129 semapv:UnspecifiedMatching -OMIM:614821 PTCSC3 skos:exactMatch hgnc:PTCSC3 semapv:UnspecifiedMatching +OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:43959 semapv:UnspecifiedMatching +OMIM:614821 PTCSC3 skos:exactMatch hgnc.symbol:PTCSC3 semapv:UnspecifiedMatching OMIM:614821 PTCSC3 skos:exactMatch ncbigene:100886964 semapv:UnspecifiedMatching -OMIM:614824 AP5S1 skos:exactMatch hgnc:AP5S1 semapv:UnspecifiedMatching +OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:15875 semapv:UnspecifiedMatching +OMIM:614824 AP5S1 skos:exactMatch hgnc.symbol:AP5S1 semapv:UnspecifiedMatching OMIM:614824 AP5S1 skos:exactMatch ncbigene:55317 semapv:UnspecifiedMatching -OMIM:614825 REPS1 skos:exactMatch hgnc:REPS1 semapv:UnspecifiedMatching +OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:15578 semapv:UnspecifiedMatching +OMIM:614825 REPS1 skos:exactMatch hgnc.symbol:REPS1 semapv:UnspecifiedMatching OMIM:614825 REPS1 skos:exactMatch ncbigene:85021 semapv:UnspecifiedMatching -OMIM:614827 DNAJC11 skos:exactMatch hgnc:DNAJC11 semapv:UnspecifiedMatching +OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:25570 semapv:UnspecifiedMatching +OMIM:614827 DNAJC11 skos:exactMatch hgnc.symbol:DNAJC11 semapv:UnspecifiedMatching OMIM:614827 DNAJC11 skos:exactMatch ncbigene:55735 semapv:UnspecifiedMatching -OMIM:614828 POMGNT2 skos:exactMatch hgnc:POMGNT2 semapv:UnspecifiedMatching +OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:25902 semapv:UnspecifiedMatching +OMIM:614828 POMGNT2 skos:exactMatch hgnc.symbol:POMGNT2 semapv:UnspecifiedMatching OMIM:614828 POMGNT2 skos:exactMatch ncbigene:84892 semapv:UnspecifiedMatching -OMIM:614829 ODAPH skos:exactMatch hgnc:ODAPH semapv:UnspecifiedMatching +OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:26300 semapv:UnspecifiedMatching +OMIM:614829 ODAPH skos:exactMatch hgnc.symbol:ODAPH semapv:UnspecifiedMatching OMIM:614829 ODAPH skos:exactMatch ncbigene:152816 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:324262 semapv:UnspecifiedMatching +OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch Orphanet:363429 semapv:UnspecifiedMatching OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch UMLS:C3553816 semapv:UnspecifiedMatching -OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch orphanet.ordo:324262 semapv:UnspecifiedMatching -OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch orphanet.ordo:363429 semapv:UnspecifiedMatching -OMIM:614835 ACTBL2 skos:exactMatch hgnc:ACTBL2 semapv:UnspecifiedMatching +OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:17780 semapv:UnspecifiedMatching +OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:ACTBL2 semapv:UnspecifiedMatching OMIM:614835 ACTBL2 skos:exactMatch ncbigene:345651 semapv:UnspecifiedMatching -OMIM:614843 ODAM skos:exactMatch hgnc:ODAM semapv:UnspecifiedMatching +OMIM:614843 ODAM skos:exactMatch hgnc.symbol:26043 semapv:UnspecifiedMatching +OMIM:614843 ODAM skos:exactMatch hgnc.symbol:ODAM semapv:UnspecifiedMatching OMIM:614843 ODAM skos:exactMatch ncbigene:54959 semapv:UnspecifiedMatching -OMIM:614848 CEP164 skos:exactMatch hgnc:CEP164 semapv:UnspecifiedMatching +OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:29182 semapv:UnspecifiedMatching +OMIM:614848 CEP164 skos:exactMatch hgnc.symbol:CEP164 semapv:UnspecifiedMatching OMIM:614848 CEP164 skos:exactMatch ncbigene:22897 semapv:UnspecifiedMatching -OMIM:614853 CRLF3 skos:exactMatch hgnc:CRLF3 semapv:UnspecifiedMatching +OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:17177 semapv:UnspecifiedMatching +OMIM:614853 CRLF3 skos:exactMatch hgnc.symbol:CRLF3 semapv:UnspecifiedMatching OMIM:614853 CRLF3 skos:exactMatch ncbigene:51379 semapv:UnspecifiedMatching OMIM:614854 LRRC59 skos:exactMatch UMLS:C1825904 semapv:UnspecifiedMatching -OMIM:614854 LRRC59 skos:exactMatch hgnc:LRRC59 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:28817 semapv:UnspecifiedMatching +OMIM:614854 LRRC59 skos:exactMatch hgnc.symbol:LRRC59 semapv:UnspecifiedMatching OMIM:614854 LRRC59 skos:exactMatch ncbigene:55379 semapv:UnspecifiedMatching -OMIM:614855 TBC1D14 skos:exactMatch hgnc:TBC1D14 semapv:UnspecifiedMatching +OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:29246 semapv:UnspecifiedMatching +OMIM:614855 TBC1D14 skos:exactMatch hgnc.symbol:TBC1D14 semapv:UnspecifiedMatching OMIM:614855 TBC1D14 skos:exactMatch ncbigene:57533 semapv:UnspecifiedMatching +OMIM:614860 dystonia 23 skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching OMIM:614860 dystonia 23 skos:exactMatch UMLS:C3538999 semapv:UnspecifiedMatching -OMIM:614860 dystonia 23 skos:exactMatch orphanet.ordo:420492 semapv:UnspecifiedMatching -OMIM:614864 DNAAF5 skos:exactMatch hgnc:DNAAF5 semapv:UnspecifiedMatching +OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:26013 semapv:UnspecifiedMatching +OMIM:614864 DNAAF5 skos:exactMatch hgnc.symbol:DNAAF5 semapv:UnspecifiedMatching OMIM:614864 DNAAF5 skos:exactMatch ncbigene:54919 semapv:UnspecifiedMatching -OMIM:614865 DBET skos:exactMatch hgnc:DBET semapv:UnspecifiedMatching +OMIM:614865 DBET skos:exactMatch hgnc.symbol:43904 semapv:UnspecifiedMatching +OMIM:614865 DBET skos:exactMatch hgnc.symbol:DBET semapv:UnspecifiedMatching OMIM:614865 DBET skos:exactMatch ncbigene:100419743 semapv:UnspecifiedMatching +OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch Orphanet:324530 semapv:UnspecifiedMatching OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching -OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation skos:exactMatch orphanet.ordo:324530 semapv:UnspecifiedMatching -OMIM:614884 VWA3B skos:exactMatch hgnc:VWA3B semapv:UnspecifiedMatching +OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:28385 semapv:UnspecifiedMatching +OMIM:614884 VWA3B skos:exactMatch hgnc.symbol:VWA3B semapv:UnspecifiedMatching OMIM:614884 VWA3B skos:exactMatch ncbigene:200403 semapv:UnspecifiedMatching -OMIM:614888 AAGAB skos:exactMatch hgnc:AAGAB semapv:UnspecifiedMatching +OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:25662 semapv:UnspecifiedMatching +OMIM:614888 AAGAB skos:exactMatch hgnc.symbol:AAGAB semapv:UnspecifiedMatching OMIM:614888 AAGAB skos:exactMatch ncbigene:79719 semapv:UnspecifiedMatching +OMIM:614889 immunodeficiency 28 skos:exactMatch Orphanet:319547 semapv:UnspecifiedMatching +OMIM:614889 immunodeficiency 28 skos:exactMatch Orphanet:319574 semapv:UnspecifiedMatching OMIM:614889 immunodeficiency 28 skos:exactMatch UMLS:C4013947 semapv:UnspecifiedMatching -OMIM:614889 immunodeficiency 28 skos:exactMatch orphanet.ordo:319547 semapv:UnspecifiedMatching -OMIM:614889 immunodeficiency 28 skos:exactMatch orphanet.ordo:319574 semapv:UnspecifiedMatching +OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch Orphanet:99952 semapv:UnspecifiedMatching OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch UMLS:C3540453 semapv:UnspecifiedMatching -OMIM:614895 charcot-marie-tooth disease, demyelinating, iia 4f skos:exactMatch orphanet.ordo:99952 semapv:UnspecifiedMatching -OMIM:614901 BCKDK skos:exactMatch hgnc:BCKDK semapv:UnspecifiedMatching +OMIM:614901 BCKDK skos:exactMatch hgnc.symbol:16902 semapv:UnspecifiedMatching +OMIM:614901 BCKDK skos:exactMatch hgnc.symbol:BCKDK semapv:UnspecifiedMatching OMIM:614901 BCKDK skos:exactMatch ncbigene:10295 semapv:UnspecifiedMatching -OMIM:614902 ARHGAP33 skos:exactMatch hgnc:ARHGAP33 semapv:UnspecifiedMatching +OMIM:614902 ARHGAP33 skos:exactMatch hgnc.symbol:23085 semapv:UnspecifiedMatching +OMIM:614902 ARHGAP33 skos:exactMatch hgnc.symbol:ARHGAP33 semapv:UnspecifiedMatching OMIM:614902 ARHGAP33 skos:exactMatch ncbigene:115703 semapv:UnspecifiedMatching -OMIM:614903 SNX16 skos:exactMatch hgnc:SNX16 semapv:UnspecifiedMatching +OMIM:614903 SNX16 skos:exactMatch hgnc.symbol:14980 semapv:UnspecifiedMatching +OMIM:614903 SNX16 skos:exactMatch hgnc.symbol:SNX16 semapv:UnspecifiedMatching OMIM:614903 SNX16 skos:exactMatch ncbigene:64089 semapv:UnspecifiedMatching -OMIM:614904 SNX7 skos:exactMatch hgnc:SNX7 semapv:UnspecifiedMatching +OMIM:614904 SNX7 skos:exactMatch hgnc.symbol:14971 semapv:UnspecifiedMatching +OMIM:614904 SNX7 skos:exactMatch hgnc.symbol:SNX7 semapv:UnspecifiedMatching OMIM:614904 SNX7 skos:exactMatch ncbigene:51375 semapv:UnspecifiedMatching -OMIM:614905 SNX8 skos:exactMatch hgnc:SNX8 semapv:UnspecifiedMatching +OMIM:614905 SNX8 skos:exactMatch hgnc.symbol:14972 semapv:UnspecifiedMatching +OMIM:614905 SNX8 skos:exactMatch hgnc.symbol:SNX8 semapv:UnspecifiedMatching OMIM:614905 SNX8 skos:exactMatch ncbigene:29886 semapv:UnspecifiedMatching -OMIM:614906 SNX11 skos:exactMatch hgnc:SNX11 semapv:UnspecifiedMatching +OMIM:614906 SNX11 skos:exactMatch hgnc.symbol:14975 semapv:UnspecifiedMatching +OMIM:614906 SNX11 skos:exactMatch hgnc.symbol:SNX11 semapv:UnspecifiedMatching OMIM:614906 SNX11 skos:exactMatch ncbigene:29916 semapv:UnspecifiedMatching -OMIM:614907 PRPF39 skos:exactMatch hgnc:PRPF39 semapv:UnspecifiedMatching +OMIM:614907 PRPF39 skos:exactMatch hgnc.symbol:20314 semapv:UnspecifiedMatching +OMIM:614907 PRPF39 skos:exactMatch hgnc.symbol:PRPF39 semapv:UnspecifiedMatching OMIM:614907 PRPF39 skos:exactMatch ncbigene:55015 semapv:UnspecifiedMatching -OMIM:614908 HIKESHI skos:exactMatch hgnc:HIKESHI semapv:UnspecifiedMatching +OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:26938 semapv:UnspecifiedMatching +OMIM:614908 HIKESHI skos:exactMatch hgnc.symbol:HIKESHI semapv:UnspecifiedMatching OMIM:614908 HIKESHI skos:exactMatch ncbigene:51501 semapv:UnspecifiedMatching -OMIM:614909 TMEM174 skos:exactMatch hgnc:TMEM174 semapv:UnspecifiedMatching +OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:28187 semapv:UnspecifiedMatching +OMIM:614909 TMEM174 skos:exactMatch hgnc.symbol:TMEM174 semapv:UnspecifiedMatching OMIM:614909 TMEM174 skos:exactMatch ncbigene:134288 semapv:UnspecifiedMatching -OMIM:614910 C1QTNF6 skos:exactMatch hgnc:C1QTNF6 semapv:UnspecifiedMatching +OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:14343 semapv:UnspecifiedMatching +OMIM:614910 C1QTNF6 skos:exactMatch hgnc.symbol:C1QTNF6 semapv:UnspecifiedMatching OMIM:614910 C1QTNF6 skos:exactMatch ncbigene:114904 semapv:UnspecifiedMatching -OMIM:614911 C1QTNF4 skos:exactMatch hgnc:C1QTNF4 semapv:UnspecifiedMatching +OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:14346 semapv:UnspecifiedMatching +OMIM:614911 C1QTNF4 skos:exactMatch hgnc.symbol:C1QTNF4 semapv:UnspecifiedMatching OMIM:614911 C1QTNF4 skos:exactMatch ncbigene:114900 semapv:UnspecifiedMatching -OMIM:614912 TRABD2A skos:exactMatch hgnc:TRABD2A semapv:UnspecifiedMatching +OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:27013 semapv:UnspecifiedMatching +OMIM:614912 TRABD2A skos:exactMatch hgnc.symbol:TRABD2A semapv:UnspecifiedMatching OMIM:614912 TRABD2A skos:exactMatch ncbigene:129293 semapv:UnspecifiedMatching -OMIM:614913 TRABD2B skos:exactMatch hgnc:TRABD2B semapv:UnspecifiedMatching +OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:44200 semapv:UnspecifiedMatching +OMIM:614913 TRABD2B skos:exactMatch hgnc.symbol:TRABD2B semapv:UnspecifiedMatching OMIM:614913 TRABD2B skos:exactMatch ncbigene:388630 semapv:UnspecifiedMatching -OMIM:614914 MIR298 skos:exactMatch hgnc:MIR298 semapv:UnspecifiedMatching +OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:33634 semapv:UnspecifiedMatching +OMIM:614914 MIR298 skos:exactMatch hgnc.symbol:MIR298 semapv:UnspecifiedMatching OMIM:614914 MIR298 skos:exactMatch ncbigene:100126296 semapv:UnspecifiedMatching -OMIM:614917 RMND1 skos:exactMatch hgnc:RMND1 semapv:UnspecifiedMatching +OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:21176 semapv:UnspecifiedMatching +OMIM:614917 RMND1 skos:exactMatch hgnc.symbol:RMND1 semapv:UnspecifiedMatching OMIM:614917 RMND1 skos:exactMatch ncbigene:55005 semapv:UnspecifiedMatching OMIM:614918 PTCD3 skos:exactMatch UMLS:C1826731 semapv:UnspecifiedMatching OMIM:614918 PTCD3 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching -OMIM:614918 PTCD3 skos:exactMatch hgnc:PTCD3 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:24717 semapv:UnspecifiedMatching +OMIM:614918 PTCD3 skos:exactMatch hgnc.symbol:PTCD3 semapv:UnspecifiedMatching OMIM:614918 PTCD3 skos:exactMatch ncbigene:55037 semapv:UnspecifiedMatching -OMIM:614919 NOA1 skos:exactMatch hgnc:NOA1 semapv:UnspecifiedMatching +OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:28473 semapv:UnspecifiedMatching +OMIM:614919 NOA1 skos:exactMatch hgnc.symbol:NOA1 semapv:UnspecifiedMatching OMIM:614919 NOA1 skos:exactMatch ncbigene:84273 semapv:UnspecifiedMatching +OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch Orphanet:44 semapv:UnspecifiedMatching +OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch Orphanet:772 semapv:UnspecifiedMatching OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch UMLS:C3554055 semapv:UnspecifiedMatching -OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch orphanet.ordo:44 semapv:UnspecifiedMatching -OMIM:614920 peroxisome biogenesis disorder 14b skos:exactMatch orphanet.ordo:772 semapv:UnspecifiedMatching +OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch Orphanet:319646 semapv:UnspecifiedMatching OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch UMLS:C2752015 semapv:UnspecifiedMatching -OMIM:614921 congenital disorder of glycosylation, iia it skos:exactMatch orphanet.ordo:319646 semapv:UnspecifiedMatching -OMIM:614925 OTOGL skos:exactMatch hgnc:OTOGL semapv:UnspecifiedMatching +OMIM:614925 OTOGL skos:exactMatch hgnc.symbol:26901 semapv:UnspecifiedMatching +OMIM:614925 OTOGL skos:exactMatch hgnc.symbol:OTOGL semapv:UnspecifiedMatching OMIM:614925 OTOGL skos:exactMatch ncbigene:283310 semapv:UnspecifiedMatching +OMIM:614926 perrault syndrome 2 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching OMIM:614926 perrault syndrome 2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching -OMIM:614926 perrault syndrome 2 skos:exactMatch orphanet.ordo:2855 semapv:UnspecifiedMatching -OMIM:614930 LRRC6 skos:exactMatch hgnc:DNAAF11 semapv:UnspecifiedMatching +OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:16725 semapv:UnspecifiedMatching +OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:DNAAF11 semapv:UnspecifiedMatching OMIM:614930 LRRC6 skos:exactMatch ncbigene:23639 semapv:UnspecifiedMatching -OMIM:614933 LINCMD1 skos:exactMatch hgnc:LINCMD1 semapv:UnspecifiedMatching +OMIM:614933 LINCMD1 skos:exactMatch hgnc.symbol:49089 semapv:UnspecifiedMatching +OMIM:614933 LINCMD1 skos:exactMatch hgnc.symbol:LINCMD1 semapv:UnspecifiedMatching OMIM:614933 LINCMD1 skos:exactMatch ncbigene:101154644 semapv:UnspecifiedMatching -OMIM:614938 VTRNA2-1 skos:exactMatch hgnc:VTRNA2-1 semapv:UnspecifiedMatching +OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:37054 semapv:UnspecifiedMatching +OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:VTRNA2-1 semapv:UnspecifiedMatching OMIM:614938 VTRNA2-1 skos:exactMatch ncbigene:100126299 semapv:UnspecifiedMatching -OMIM:614939 PGAM5 skos:exactMatch hgnc:PGAM5 semapv:UnspecifiedMatching +OMIM:614939 PGAM5 skos:exactMatch hgnc.symbol:28763 semapv:UnspecifiedMatching +OMIM:614939 PGAM5 skos:exactMatch hgnc.symbol:PGAM5 semapv:UnspecifiedMatching OMIM:614939 PGAM5 skos:exactMatch ncbigene:192111 semapv:UnspecifiedMatching -OMIM:614942 PGS1 skos:exactMatch hgnc:PGS1 semapv:UnspecifiedMatching +OMIM:614942 PGS1 skos:exactMatch hgnc.symbol:30029 semapv:UnspecifiedMatching +OMIM:614942 PGS1 skos:exactMatch hgnc.symbol:PGS1 semapv:UnspecifiedMatching OMIM:614942 PGS1 skos:exactMatch ncbigene:9489 semapv:UnspecifiedMatching -OMIM:614943 TRIAP1 skos:exactMatch hgnc:TRIAP1 semapv:UnspecifiedMatching +OMIM:614943 TRIAP1 skos:exactMatch hgnc.symbol:26937 semapv:UnspecifiedMatching +OMIM:614943 TRIAP1 skos:exactMatch hgnc.symbol:TRIAP1 semapv:UnspecifiedMatching OMIM:614943 TRIAP1 skos:exactMatch ncbigene:51499 semapv:UnspecifiedMatching -OMIM:614948 TAMM41 skos:exactMatch hgnc:TAMM41 semapv:UnspecifiedMatching +OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:25187 semapv:UnspecifiedMatching +OMIM:614948 TAMM41 skos:exactMatch hgnc.symbol:TAMM41 semapv:UnspecifiedMatching OMIM:614948 TAMM41 skos:exactMatch ncbigene:132001 semapv:UnspecifiedMatching -OMIM:614949 TMEM231 skos:exactMatch hgnc:TMEM231 semapv:UnspecifiedMatching +OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:37234 semapv:UnspecifiedMatching +OMIM:614949 TMEM231 skos:exactMatch hgnc.symbol:TMEM231 semapv:UnspecifiedMatching OMIM:614949 TMEM231 skos:exactMatch ncbigene:79583 semapv:UnspecifiedMatching -OMIM:614950 TMEM17 skos:exactMatch hgnc:TMEM17 semapv:UnspecifiedMatching +OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:26623 semapv:UnspecifiedMatching +OMIM:614950 TMEM17 skos:exactMatch hgnc.symbol:TMEM17 semapv:UnspecifiedMatching OMIM:614950 TMEM17 skos:exactMatch ncbigene:200728 semapv:UnspecifiedMatching -OMIM:614951 HEATR3 skos:exactMatch hgnc:HEATR3 semapv:UnspecifiedMatching +OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:26087 semapv:UnspecifiedMatching +OMIM:614951 HEATR3 skos:exactMatch hgnc.symbol:HEATR3 semapv:UnspecifiedMatching OMIM:614951 HEATR3 skos:exactMatch ncbigene:55027 semapv:UnspecifiedMatching -OMIM:614952 SLFN5 skos:exactMatch hgnc:SLFN5 semapv:UnspecifiedMatching +OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:28286 semapv:UnspecifiedMatching +OMIM:614952 SLFN5 skos:exactMatch hgnc.symbol:SLFN5 semapv:UnspecifiedMatching OMIM:614952 SLFN5 skos:exactMatch ncbigene:162394 semapv:UnspecifiedMatching -OMIM:614953 SLFN11 skos:exactMatch hgnc:SLFN11 semapv:UnspecifiedMatching +OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:26633 semapv:UnspecifiedMatching +OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:SLFN11 semapv:UnspecifiedMatching OMIM:614953 SLFN11 skos:exactMatch ncbigene:91607 semapv:UnspecifiedMatching -OMIM:614955 SLFN12 skos:exactMatch hgnc:SLFN12 semapv:UnspecifiedMatching +OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:25500 semapv:UnspecifiedMatching +OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:SLFN12 semapv:UnspecifiedMatching OMIM:614955 SLFN12 skos:exactMatch ncbigene:55106 semapv:UnspecifiedMatching -OMIM:614956 SLFN12L skos:exactMatch hgnc:SLFN12L semapv:UnspecifiedMatching +OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:33920 semapv:UnspecifiedMatching +OMIM:614956 SLFN12L skos:exactMatch hgnc.symbol:SLFN12L semapv:UnspecifiedMatching OMIM:614956 SLFN12L skos:exactMatch ncbigene:100506736 semapv:UnspecifiedMatching -OMIM:614957 SLFN13 skos:exactMatch hgnc:SLFN13 semapv:UnspecifiedMatching +OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:26481 semapv:UnspecifiedMatching +OMIM:614957 SLFN13 skos:exactMatch hgnc.symbol:SLFN13 semapv:UnspecifiedMatching OMIM:614957 SLFN13 skos:exactMatch ncbigene:146857 semapv:UnspecifiedMatching -OMIM:614958 SLFN14 skos:exactMatch hgnc:SLFN14 semapv:UnspecifiedMatching +OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:32689 semapv:UnspecifiedMatching +OMIM:614958 SLFN14 skos:exactMatch hgnc.symbol:SLFN14 semapv:UnspecifiedMatching OMIM:614958 SLFN14 skos:exactMatch ncbigene:342618 semapv:UnspecifiedMatching +OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch UMLS:C3554195 semapv:UnspecifiedMatching -OMIM:614959 developmental and epileptic encephalopathy 14 skos:exactMatch orphanet.ordo:293181 semapv:UnspecifiedMatching -OMIM:614960 PLD6 skos:exactMatch hgnc:PLD6 semapv:UnspecifiedMatching +OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:30447 semapv:UnspecifiedMatching +OMIM:614960 PLD6 skos:exactMatch hgnc.symbol:PLD6 semapv:UnspecifiedMatching OMIM:614960 PLD6 skos:exactMatch ncbigene:201164 semapv:UnspecifiedMatching -OMIM:614964 ELFN1 skos:exactMatch hgnc:ELFN1 semapv:UnspecifiedMatching +OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:33154 semapv:UnspecifiedMatching +OMIM:614964 ELFN1 skos:exactMatch hgnc.symbol:ELFN1 semapv:UnspecifiedMatching OMIM:614964 ELFN1 skos:exactMatch ncbigene:392617 semapv:UnspecifiedMatching -OMIM:614965 SCRN1 skos:exactMatch hgnc:SCRN1 semapv:UnspecifiedMatching +OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:22192 semapv:UnspecifiedMatching +OMIM:614965 SCRN1 skos:exactMatch hgnc.symbol:SCRN1 semapv:UnspecifiedMatching OMIM:614965 SCRN1 skos:exactMatch ncbigene:9805 semapv:UnspecifiedMatching -OMIM:614966 SCRN2 skos:exactMatch hgnc:SCRN2 semapv:UnspecifiedMatching +OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:30381 semapv:UnspecifiedMatching +OMIM:614966 SCRN2 skos:exactMatch hgnc.symbol:SCRN2 semapv:UnspecifiedMatching OMIM:614966 SCRN2 skos:exactMatch ncbigene:90507 semapv:UnspecifiedMatching -OMIM:614967 SCRN3 skos:exactMatch hgnc:SCRN3 semapv:UnspecifiedMatching +OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:30382 semapv:UnspecifiedMatching +OMIM:614967 SCRN3 skos:exactMatch hgnc.symbol:SCRN3 semapv:UnspecifiedMatching OMIM:614967 SCRN3 skos:exactMatch ncbigene:79634 semapv:UnspecifiedMatching -OMIM:614968 SH2D4A skos:exactMatch hgnc:SH2D4A semapv:UnspecifiedMatching +OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:26102 semapv:UnspecifiedMatching +OMIM:614968 SH2D4A skos:exactMatch hgnc.symbol:SH2D4A semapv:UnspecifiedMatching OMIM:614968 SH2D4A skos:exactMatch ncbigene:63898 semapv:UnspecifiedMatching -OMIM:614971 TUG1 skos:exactMatch hgnc:TUG1 semapv:UnspecifiedMatching +OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:26066 semapv:UnspecifiedMatching +OMIM:614971 TUG1 skos:exactMatch hgnc.symbol:TUG1 semapv:UnspecifiedMatching OMIM:614971 TUG1 skos:exactMatch ncbigene:55000 semapv:UnspecifiedMatching -OMIM:614975 FENDRR skos:exactMatch hgnc:FENDRR semapv:UnspecifiedMatching +OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:43894 semapv:UnspecifiedMatching +OMIM:614975 FENDRR skos:exactMatch hgnc.symbol:FENDRR semapv:UnspecifiedMatching OMIM:614975 FENDRR skos:exactMatch ncbigene:400550 semapv:UnspecifiedMatching -OMIM:614977 LINC01081 skos:exactMatch hgnc:LINC01081 semapv:UnspecifiedMatching +OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:49124 semapv:UnspecifiedMatching +OMIM:614977 LINC01081 skos:exactMatch hgnc.symbol:LINC01081 semapv:UnspecifiedMatching OMIM:614977 LINC01081 skos:exactMatch ncbigene:101154687 semapv:UnspecifiedMatching -OMIM:614978 LINC01082 skos:exactMatch hgnc:LINC01082 semapv:UnspecifiedMatching +OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:49125 semapv:UnspecifiedMatching +OMIM:614978 LINC01082 skos:exactMatch hgnc.symbol:LINC01082 semapv:UnspecifiedMatching OMIM:614978 LINC01082 skos:exactMatch ncbigene:100506542 semapv:UnspecifiedMatching +OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch Orphanet:313800 semapv:UnspecifiedMatching OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch UMLS:C3554278 semapv:UnspecifiedMatching -OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome skos:exactMatch orphanet.ordo:313800 semapv:UnspecifiedMatching -OMIM:614981 ATPIF1 skos:exactMatch hgnc:ATP5IF1 semapv:UnspecifiedMatching +OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:871 semapv:UnspecifiedMatching +OMIM:614981 ATPIF1 skos:exactMatch hgnc.symbol:ATP5IF1 semapv:UnspecifiedMatching OMIM:614981 ATPIF1 skos:exactMatch ncbigene:93974 semapv:UnspecifiedMatching -OMIM:614982 SMCHD1 skos:exactMatch hgnc:SMCHD1 semapv:UnspecifiedMatching +OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:29090 semapv:UnspecifiedMatching +OMIM:614982 SMCHD1 skos:exactMatch hgnc.symbol:SMCHD1 semapv:UnspecifiedMatching OMIM:614982 SMCHD1 skos:exactMatch ncbigene:23347 semapv:UnspecifiedMatching -OMIM:614983 BATF2 skos:exactMatch hgnc:BATF2 semapv:UnspecifiedMatching +OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:25163 semapv:UnspecifiedMatching +OMIM:614983 BATF2 skos:exactMatch hgnc.symbol:BATF2 semapv:UnspecifiedMatching OMIM:614983 BATF2 skos:exactMatch ncbigene:116071 semapv:UnspecifiedMatching -OMIM:614984 DHTKD1 skos:exactMatch hgnc:DHTKD1 semapv:UnspecifiedMatching +OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:23537 semapv:UnspecifiedMatching +OMIM:614984 DHTKD1 skos:exactMatch hgnc.symbol:DHTKD1 semapv:UnspecifiedMatching OMIM:614984 DHTKD1 skos:exactMatch ncbigene:55526 semapv:UnspecifiedMatching -OMIM:614985 HELLPAR skos:exactMatch hgnc:HELLPAR semapv:UnspecifiedMatching +OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:43984 semapv:UnspecifiedMatching +OMIM:614985 HELLPAR skos:exactMatch hgnc.symbol:HELLPAR semapv:UnspecifiedMatching OMIM:614985 HELLPAR skos:exactMatch ncbigene:101101692 semapv:UnspecifiedMatching OMIM:614986 CAMK2N1 skos:exactMatch UMLS:C1824522 semapv:UnspecifiedMatching -OMIM:614986 CAMK2N1 skos:exactMatch hgnc:CAMK2N1 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:24190 semapv:UnspecifiedMatching +OMIM:614986 CAMK2N1 skos:exactMatch hgnc.symbol:CAMK2N1 semapv:UnspecifiedMatching OMIM:614986 CAMK2N1 skos:exactMatch ncbigene:55450 semapv:UnspecifiedMatching -OMIM:614987 EPS8L1 skos:exactMatch hgnc:EPS8L1 semapv:UnspecifiedMatching +OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:21295 semapv:UnspecifiedMatching +OMIM:614987 EPS8L1 skos:exactMatch hgnc.symbol:EPS8L1 semapv:UnspecifiedMatching OMIM:614987 EPS8L1 skos:exactMatch ncbigene:54869 semapv:UnspecifiedMatching -OMIM:614988 EPS8L2 skos:exactMatch hgnc:EPS8L2 semapv:UnspecifiedMatching +OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:21296 semapv:UnspecifiedMatching +OMIM:614988 EPS8L2 skos:exactMatch hgnc.symbol:EPS8L2 semapv:UnspecifiedMatching OMIM:614988 EPS8L2 skos:exactMatch ncbigene:64787 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch UMLS:C1333349 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch UMLS:C2748535 semapv:UnspecifiedMatching -OMIM:614989 EPS8L3 skos:exactMatch hgnc:EPS8L3 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:21297 semapv:UnspecifiedMatching +OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:EPS8L3 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch ncbigene:79574 semapv:UnspecifiedMatching -OMIM:614991 UCH1LAS skos:exactMatch hgnc:UCHL1-DT semapv:UnspecifiedMatching +OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:40600 semapv:UnspecifiedMatching +OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:UCHL1-DT semapv:UnspecifiedMatching OMIM:614991 UCH1LAS skos:exactMatch ncbigene:101410542 semapv:UnspecifiedMatching -OMIM:614992 LINC00237 skos:exactMatch hgnc:LINC00237 semapv:UnspecifiedMatching +OMIM:614992 LINC00237 skos:exactMatch hgnc.symbol:38166 semapv:UnspecifiedMatching +OMIM:614992 LINC00237 skos:exactMatch hgnc.symbol:LINC00237 semapv:UnspecifiedMatching OMIM:614992 LINC00237 skos:exactMatch ncbigene:105372556 semapv:UnspecifiedMatching -OMIM:614993 CAMKV skos:exactMatch hgnc:CAMKV semapv:UnspecifiedMatching +OMIM:614993 CAMKV skos:exactMatch hgnc.symbol:28788 semapv:UnspecifiedMatching +OMIM:614993 CAMKV skos:exactMatch hgnc.symbol:CAMKV semapv:UnspecifiedMatching OMIM:614993 CAMKV skos:exactMatch ncbigene:79012 semapv:UnspecifiedMatching -OMIM:614994 CAMK1G skos:exactMatch hgnc:CAMK1G semapv:UnspecifiedMatching +OMIM:614994 CAMK1G skos:exactMatch hgnc.symbol:14585 semapv:UnspecifiedMatching +OMIM:614994 CAMK1G skos:exactMatch hgnc.symbol:CAMK1G semapv:UnspecifiedMatching OMIM:614994 CAMK1G skos:exactMatch ncbigene:57172 semapv:UnspecifiedMatching -OMIM:614995 IL17RE skos:exactMatch hgnc:IL17RE semapv:UnspecifiedMatching +OMIM:614995 IL17RE skos:exactMatch hgnc.symbol:18439 semapv:UnspecifiedMatching +OMIM:614995 IL17RE skos:exactMatch hgnc.symbol:IL17RE semapv:UnspecifiedMatching OMIM:614995 IL17RE skos:exactMatch ncbigene:132014 semapv:UnspecifiedMatching OMIM:614996 MSE skos:exactMatch ncbigene:101180900 semapv:UnspecifiedMatching -OMIM:614997 GATAD2A skos:exactMatch hgnc:GATAD2A semapv:UnspecifiedMatching +OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:29989 semapv:UnspecifiedMatching +OMIM:614997 GATAD2A skos:exactMatch hgnc.symbol:GATAD2A semapv:UnspecifiedMatching OMIM:614997 GATAD2A skos:exactMatch ncbigene:54815 semapv:UnspecifiedMatching OMIM:614998 GATAD2B skos:exactMatch UMLS:C1539553 semapv:UnspecifiedMatching OMIM:614998 GATAD2B skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching -OMIM:614998 GATAD2B skos:exactMatch hgnc:GATAD2B semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:30778 semapv:UnspecifiedMatching +OMIM:614998 GATAD2B skos:exactMatch hgnc.symbol:GATAD2B semapv:UnspecifiedMatching OMIM:614998 GATAD2B skos:exactMatch ncbigene:57459 semapv:UnspecifiedMatching -OMIM:614999 CYP4X1 skos:exactMatch hgnc:CYP4X1 semapv:UnspecifiedMatching +OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:20244 semapv:UnspecifiedMatching +OMIM:614999 CYP4X1 skos:exactMatch hgnc.symbol:CYP4X1 semapv:UnspecifiedMatching OMIM:614999 CYP4X1 skos:exactMatch ncbigene:260293 semapv:UnspecifiedMatching -OMIM:615000 TECPR2 skos:exactMatch hgnc:TECPR2 semapv:UnspecifiedMatching +OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:19957 semapv:UnspecifiedMatching +OMIM:615000 TECPR2 skos:exactMatch hgnc.symbol:TECPR2 semapv:UnspecifiedMatching OMIM:615000 TECPR2 skos:exactMatch ncbigene:9895 semapv:UnspecifiedMatching -OMIM:615001 ZC3H12C skos:exactMatch hgnc:ZC3H12C semapv:UnspecifiedMatching +OMIM:615001 ZC3H12C skos:exactMatch hgnc.symbol:29362 semapv:UnspecifiedMatching +OMIM:615001 ZC3H12C skos:exactMatch hgnc.symbol:ZC3H12C semapv:UnspecifiedMatching OMIM:615001 ZC3H12C skos:exactMatch ncbigene:85463 semapv:UnspecifiedMatching -OMIM:615002 CAMKK2 skos:exactMatch hgnc:CAMKK2 semapv:UnspecifiedMatching +OMIM:615002 CAMKK2 skos:exactMatch hgnc.symbol:1470 semapv:UnspecifiedMatching +OMIM:615002 CAMKK2 skos:exactMatch hgnc.symbol:CAMKK2 semapv:UnspecifiedMatching OMIM:615002 CAMKK2 skos:exactMatch ncbigene:10645 semapv:UnspecifiedMatching -OMIM:615003 DDHD2 skos:exactMatch hgnc:DDHD2 semapv:UnspecifiedMatching +OMIM:615003 DDHD2 skos:exactMatch hgnc.symbol:29106 semapv:UnspecifiedMatching +OMIM:615003 DDHD2 skos:exactMatch hgnc.symbol:DDHD2 semapv:UnspecifiedMatching OMIM:615003 DDHD2 skos:exactMatch ncbigene:23259 semapv:UnspecifiedMatching -OMIM:615004 LRIT3 skos:exactMatch hgnc:LRIT3 semapv:UnspecifiedMatching +OMIM:615004 LRIT3 skos:exactMatch hgnc.symbol:24783 semapv:UnspecifiedMatching +OMIM:615004 LRIT3 skos:exactMatch hgnc.symbol:LRIT3 semapv:UnspecifiedMatching OMIM:615004 LRIT3 skos:exactMatch ncbigene:345193 semapv:UnspecifiedMatching +OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch UMLS:C3554316 semapv:UnspecifiedMatching -OMIM:615006 developmental and epileptic encephalopathy 15 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:615012 HIST1H2AG skos:exactMatch hgnc:H2AC11 semapv:UnspecifiedMatching +OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:4737 semapv:UnspecifiedMatching +OMIM:615012 HIST1H2AG skos:exactMatch hgnc.symbol:H2AC11 semapv:UnspecifiedMatching OMIM:615012 HIST1H2AG skos:exactMatch ncbigene:8969 semapv:UnspecifiedMatching -OMIM:615013 HIST1H2AH skos:exactMatch hgnc:H2AC12 semapv:UnspecifiedMatching +OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:13671 semapv:UnspecifiedMatching +OMIM:615013 HIST1H2AH skos:exactMatch hgnc.symbol:H2AC12 semapv:UnspecifiedMatching OMIM:615013 HIST1H2AH skos:exactMatch ncbigene:85235 semapv:UnspecifiedMatching -OMIM:615014 HIST2H2AB skos:exactMatch hgnc:H2AC21 semapv:UnspecifiedMatching +OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:20508 semapv:UnspecifiedMatching +OMIM:615014 HIST2H2AB skos:exactMatch hgnc.symbol:H2AC21 semapv:UnspecifiedMatching OMIM:615014 HIST2H2AB skos:exactMatch ncbigene:317772 semapv:UnspecifiedMatching -OMIM:615015 HIST3H2A skos:exactMatch hgnc:H2AC25 semapv:UnspecifiedMatching +OMIM:615015 HIST3H2A skos:exactMatch hgnc.symbol:H2AC25 semapv:UnspecifiedMatching OMIM:615015 HIST3H2A skos:exactMatch ncbigene:92815 semapv:UnspecifiedMatching -OMIM:615016 OR2J3 skos:exactMatch hgnc:OR2J3 semapv:UnspecifiedMatching +OMIM:615016 OR2J3 skos:exactMatch hgnc.symbol:8261 semapv:UnspecifiedMatching +OMIM:615016 OR2J3 skos:exactMatch hgnc.symbol:OR2J3 semapv:UnspecifiedMatching OMIM:615016 OR2J3 skos:exactMatch ncbigene:442186 semapv:UnspecifiedMatching -OMIM:615017 MIR139 skos:exactMatch hgnc:MIR139 semapv:UnspecifiedMatching +OMIM:615017 MIR139 skos:exactMatch hgnc.symbol:31526 semapv:UnspecifiedMatching +OMIM:615017 MIR139 skos:exactMatch hgnc.symbol:MIR139 semapv:UnspecifiedMatching OMIM:615017 MIR139 skos:exactMatch ncbigene:406931 semapv:UnspecifiedMatching -OMIM:615019 ELP5 skos:exactMatch hgnc:ELP5 semapv:UnspecifiedMatching +OMIM:615019 ELP5 skos:exactMatch hgnc.symbol:30617 semapv:UnspecifiedMatching +OMIM:615019 ELP5 skos:exactMatch hgnc.symbol:ELP5 semapv:UnspecifiedMatching OMIM:615019 ELP5 skos:exactMatch ncbigene:23587 semapv:UnspecifiedMatching -OMIM:615020 ELP6 skos:exactMatch hgnc:ELP6 semapv:UnspecifiedMatching +OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:25976 semapv:UnspecifiedMatching +OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:ELP6 semapv:UnspecifiedMatching OMIM:615020 ELP6 skos:exactMatch ncbigene:54859 semapv:UnspecifiedMatching -OMIM:615027 SINHCAF skos:exactMatch hgnc:SINHCAF semapv:UnspecifiedMatching +OMIM:615027 SINHCAF skos:exactMatch hgnc.symbol:30702 semapv:UnspecifiedMatching +OMIM:615027 SINHCAF skos:exactMatch hgnc.symbol:SINHCAF semapv:UnspecifiedMatching OMIM:615027 SINHCAF skos:exactMatch ncbigene:58516 semapv:UnspecifiedMatching -OMIM:615029 CBLN4 skos:exactMatch hgnc:CBLN4 semapv:UnspecifiedMatching +OMIM:615029 CBLN4 skos:exactMatch hgnc.symbol:16231 semapv:UnspecifiedMatching +OMIM:615029 CBLN4 skos:exactMatch hgnc.symbol:CBLN4 semapv:UnspecifiedMatching OMIM:615029 CBLN4 skos:exactMatch ncbigene:140689 semapv:UnspecifiedMatching OMIM:615032 intellectual developmental disorder with autism and macrocephaly skos:exactMatch UMLS:C3554373 semapv:UnspecifiedMatching -OMIM:615036 MIR410 skos:exactMatch hgnc:MIR410 semapv:UnspecifiedMatching +OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:32065 semapv:UnspecifiedMatching +OMIM:615036 MIR410 skos:exactMatch hgnc.symbol:MIR410 semapv:UnspecifiedMatching OMIM:615036 MIR410 skos:exactMatch ncbigene:574434 semapv:UnspecifiedMatching -OMIM:615037 MIR487B skos:exactMatch hgnc:MIR487B semapv:UnspecifiedMatching +OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:32533 semapv:UnspecifiedMatching +OMIM:615037 MIR487B skos:exactMatch hgnc.symbol:MIR487B semapv:UnspecifiedMatching OMIM:615037 MIR487B skos:exactMatch ncbigene:664616 semapv:UnspecifiedMatching -OMIM:615038 ODAD1 skos:exactMatch hgnc:ODAD1 semapv:UnspecifiedMatching +OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:26560 semapv:UnspecifiedMatching +OMIM:615038 ODAD1 skos:exactMatch hgnc.symbol:ODAD1 semapv:UnspecifiedMatching OMIM:615038 ODAD1 skos:exactMatch ncbigene:93233 semapv:UnspecifiedMatching -OMIM:615039 NDST4 skos:exactMatch hgnc:NDST4 semapv:UnspecifiedMatching +OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:20779 semapv:UnspecifiedMatching +OMIM:615039 NDST4 skos:exactMatch hgnc.symbol:NDST4 semapv:UnspecifiedMatching OMIM:615039 NDST4 skos:exactMatch ncbigene:64579 semapv:UnspecifiedMatching -OMIM:615044 HIST1H2BJ skos:exactMatch hgnc:H2BC11 semapv:UnspecifiedMatching +OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:4761 semapv:UnspecifiedMatching +OMIM:615044 HIST1H2BJ skos:exactMatch hgnc.symbol:H2BC11 semapv:UnspecifiedMatching OMIM:615044 HIST1H2BJ skos:exactMatch ncbigene:8970 semapv:UnspecifiedMatching -OMIM:615045 HIST1H2BK skos:exactMatch hgnc:H2BC12 semapv:UnspecifiedMatching +OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:13954 semapv:UnspecifiedMatching +OMIM:615045 HIST1H2BK skos:exactMatch hgnc.symbol:H2BC12 semapv:UnspecifiedMatching OMIM:615045 HIST1H2BK skos:exactMatch ncbigene:85236 semapv:UnspecifiedMatching -OMIM:615046 HIST3H2BB skos:exactMatch hgnc:H2BC26 semapv:UnspecifiedMatching +OMIM:615046 HIST3H2BB skos:exactMatch hgnc.symbol:H2BC26 semapv:UnspecifiedMatching OMIM:615046 HIST3H2BB skos:exactMatch ncbigene:128312 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch UMLS:C1823227 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch UMLS:C5394588 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch UMLS:C5394589 semapv:UnspecifiedMatching -OMIM:615047 TANC2 skos:exactMatch hgnc:TANC2 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:30212 semapv:UnspecifiedMatching +OMIM:615047 TANC2 skos:exactMatch hgnc.symbol:TANC2 semapv:UnspecifiedMatching OMIM:615047 TANC2 skos:exactMatch ncbigene:26115 semapv:UnspecifiedMatching -OMIM:615049 WAC skos:exactMatch hgnc:WAC semapv:UnspecifiedMatching +OMIM:615049 WAC skos:exactMatch hgnc.symbol:17327 semapv:UnspecifiedMatching +OMIM:615049 WAC skos:exactMatch hgnc.symbol:WAC semapv:UnspecifiedMatching OMIM:615049 WAC skos:exactMatch ncbigene:51322 semapv:UnspecifiedMatching -OMIM:615050 ASB5 skos:exactMatch hgnc:ASB5 semapv:UnspecifiedMatching +OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:17180 semapv:UnspecifiedMatching +OMIM:615050 ASB5 skos:exactMatch hgnc.symbol:ASB5 semapv:UnspecifiedMatching OMIM:615050 ASB5 skos:exactMatch ncbigene:140458 semapv:UnspecifiedMatching -OMIM:615051 ASB6 skos:exactMatch hgnc:ASB6 semapv:UnspecifiedMatching +OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:17181 semapv:UnspecifiedMatching +OMIM:615051 ASB6 skos:exactMatch hgnc.symbol:ASB6 semapv:UnspecifiedMatching OMIM:615051 ASB6 skos:exactMatch ncbigene:140459 semapv:UnspecifiedMatching -OMIM:615052 ASB7 skos:exactMatch hgnc:ASB7 semapv:UnspecifiedMatching +OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:17182 semapv:UnspecifiedMatching +OMIM:615052 ASB7 skos:exactMatch hgnc.symbol:ASB7 semapv:UnspecifiedMatching OMIM:615052 ASB7 skos:exactMatch ncbigene:140460 semapv:UnspecifiedMatching -OMIM:615053 ASB8 skos:exactMatch hgnc:ASB8 semapv:UnspecifiedMatching +OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:17183 semapv:UnspecifiedMatching +OMIM:615053 ASB8 skos:exactMatch hgnc.symbol:ASB8 semapv:UnspecifiedMatching OMIM:615053 ASB8 skos:exactMatch ncbigene:140461 semapv:UnspecifiedMatching -OMIM:615054 ASB10 skos:exactMatch hgnc:ASB10 semapv:UnspecifiedMatching +OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:17185 semapv:UnspecifiedMatching +OMIM:615054 ASB10 skos:exactMatch hgnc.symbol:ASB10 semapv:UnspecifiedMatching OMIM:615054 ASB10 skos:exactMatch ncbigene:136371 semapv:UnspecifiedMatching -OMIM:615055 ASB13 skos:exactMatch hgnc:ASB13 semapv:UnspecifiedMatching +OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:19765 semapv:UnspecifiedMatching +OMIM:615055 ASB13 skos:exactMatch hgnc.symbol:ASB13 semapv:UnspecifiedMatching OMIM:615055 ASB13 skos:exactMatch ncbigene:79754 semapv:UnspecifiedMatching -OMIM:615056 ASB16 skos:exactMatch hgnc:ASB16 semapv:UnspecifiedMatching +OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:19768 semapv:UnspecifiedMatching +OMIM:615056 ASB16 skos:exactMatch hgnc.symbol:ASB16 semapv:UnspecifiedMatching OMIM:615056 ASB16 skos:exactMatch ncbigene:92591 semapv:UnspecifiedMatching +OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch Orphanet:215 semapv:UnspecifiedMatching OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch UMLS:C3554399 semapv:UnspecifiedMatching -OMIM:615058 night blindness, congenital stationary, iia 1f skos:exactMatch orphanet.ordo:215 semapv:UnspecifiedMatching +OMIM:615059 hypotrichosis 11 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:615059 hypotrichosis 11 skos:exactMatch UMLS:C3554409 semapv:UnspecifiedMatching -OMIM:615059 hypotrichosis 11 skos:exactMatch orphanet.ordo:55654 semapv:UnspecifiedMatching -OMIM:615060 SCGB1D1 skos:exactMatch hgnc:SCGB1D1 semapv:UnspecifiedMatching +OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:18395 semapv:UnspecifiedMatching +OMIM:615060 SCGB1D1 skos:exactMatch hgnc.symbol:SCGB1D1 semapv:UnspecifiedMatching OMIM:615060 SCGB1D1 skos:exactMatch ncbigene:10648 semapv:UnspecifiedMatching -OMIM:615061 SCGB1D2 skos:exactMatch hgnc:SCGB1D2 semapv:UnspecifiedMatching +OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:18396 semapv:UnspecifiedMatching +OMIM:615061 SCGB1D2 skos:exactMatch hgnc.symbol:SCGB1D2 semapv:UnspecifiedMatching OMIM:615061 SCGB1D2 skos:exactMatch ncbigene:10647 semapv:UnspecifiedMatching -OMIM:615062 SCGB1D4 skos:exactMatch hgnc:SCGB1D4 semapv:UnspecifiedMatching +OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:31748 semapv:UnspecifiedMatching +OMIM:615062 SCGB1D4 skos:exactMatch hgnc.symbol:SCGB1D4 semapv:UnspecifiedMatching OMIM:615062 SCGB1D4 skos:exactMatch ncbigene:404552 semapv:UnspecifiedMatching -OMIM:615063 SCGB2B2 skos:exactMatch hgnc:SCGB2B2 semapv:UnspecifiedMatching +OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:27616 semapv:UnspecifiedMatching +OMIM:615063 SCGB2B2 skos:exactMatch hgnc.symbol:SCGB2B2 semapv:UnspecifiedMatching OMIM:615063 SCGB2B2 skos:exactMatch ncbigene:284402 semapv:UnspecifiedMatching -OMIM:615064 SLC25A29 skos:exactMatch hgnc:SLC25A29 semapv:UnspecifiedMatching +OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:20116 semapv:UnspecifiedMatching +OMIM:615064 SLC25A29 skos:exactMatch hgnc.symbol:SLC25A29 semapv:UnspecifiedMatching OMIM:615064 SLC25A29 skos:exactMatch ncbigene:123096 semapv:UnspecifiedMatching -OMIM:615068 EPG5 skos:exactMatch hgnc:EPG5 semapv:UnspecifiedMatching +OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:29331 semapv:UnspecifiedMatching +OMIM:615068 EPG5 skos:exactMatch hgnc.symbol:EPG5 semapv:UnspecifiedMatching OMIM:615068 EPG5 skos:exactMatch ncbigene:57724 semapv:UnspecifiedMatching -OMIM:615069 H4-16 skos:exactMatch hgnc:H4C16 semapv:UnspecifiedMatching +OMIM:615069 H4-16 skos:exactMatch hgnc.symbol:H4C16 semapv:UnspecifiedMatching OMIM:615069 H4-16 skos:exactMatch ncbigene:121504 semapv:UnspecifiedMatching -OMIM:615070 MIR590 skos:exactMatch hgnc:MIR590 semapv:UnspecifiedMatching +OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:32846 semapv:UnspecifiedMatching +OMIM:615070 MIR590 skos:exactMatch hgnc.symbol:MIR590 semapv:UnspecifiedMatching OMIM:615070 MIR590 skos:exactMatch ncbigene:693175 semapv:UnspecifiedMatching +OMIM:615071 alazami syndrome skos:exactMatch Orphanet:319671 semapv:UnspecifiedMatching OMIM:615071 alazami syndrome skos:exactMatch UMLS:C3554439 semapv:UnspecifiedMatching -OMIM:615071 alazami syndrome skos:exactMatch orphanet.ordo:319671 semapv:UnspecifiedMatching +OMIM:615074 gand syndrome skos:exactMatch Orphanet:363686 semapv:UnspecifiedMatching OMIM:615074 gand syndrome skos:exactMatch UMLS:C3554448 semapv:UnspecifiedMatching -OMIM:615074 gand syndrome skos:exactMatch orphanet.ordo:363686 semapv:UnspecifiedMatching -OMIM:615076 MGME1 skos:exactMatch hgnc:MGME1 semapv:UnspecifiedMatching +OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:16205 semapv:UnspecifiedMatching +OMIM:615076 MGME1 skos:exactMatch hgnc.symbol:MGME1 semapv:UnspecifiedMatching OMIM:615076 MGME1 skos:exactMatch ncbigene:92667 semapv:UnspecifiedMatching -OMIM:615077 TBC1D30 skos:exactMatch hgnc:TBC1D30 semapv:UnspecifiedMatching +OMIM:615077 TBC1D30 skos:exactMatch hgnc.symbol:29164 semapv:UnspecifiedMatching +OMIM:615077 TBC1D30 skos:exactMatch hgnc.symbol:TBC1D30 semapv:UnspecifiedMatching OMIM:615077 TBC1D30 skos:exactMatch ncbigene:23329 semapv:UnspecifiedMatching -OMIM:615078 GOLT1B skos:exactMatch hgnc:GOLT1B semapv:UnspecifiedMatching +OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:20175 semapv:UnspecifiedMatching +OMIM:615078 GOLT1B skos:exactMatch hgnc.symbol:GOLT1B semapv:UnspecifiedMatching OMIM:615078 GOLT1B skos:exactMatch ncbigene:51026 semapv:UnspecifiedMatching -OMIM:615079 ASUN skos:exactMatch hgnc:INTS13 semapv:UnspecifiedMatching +OMIM:615079 ASUN skos:exactMatch hgnc.symbol:20174 semapv:UnspecifiedMatching +OMIM:615079 ASUN skos:exactMatch hgnc.symbol:INTS13 semapv:UnspecifiedMatching OMIM:615079 ASUN skos:exactMatch ncbigene:55726 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:220460 semapv:UnspecifiedMatching +OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch Orphanet:447877 semapv:UnspecifiedMatching OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch UMLS:C3554460 semapv:UnspecifiedMatching -OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch orphanet.ordo:220460 semapv:UnspecifiedMatching -OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch orphanet.ordo:447877 semapv:UnspecifiedMatching -OMIM:615086 HARBI1 skos:exactMatch hgnc:HARBI1 semapv:UnspecifiedMatching +OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:26522 semapv:UnspecifiedMatching +OMIM:615086 HARBI1 skos:exactMatch hgnc.symbol:HARBI1 semapv:UnspecifiedMatching OMIM:615086 HARBI1 skos:exactMatch ncbigene:283254 semapv:UnspecifiedMatching OMIM:615088 ATG13 skos:exactMatch UMLS:C3146638 semapv:UnspecifiedMatching -OMIM:615088 ATG13 skos:exactMatch hgnc:ATG13 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:29091 semapv:UnspecifiedMatching +OMIM:615088 ATG13 skos:exactMatch hgnc.symbol:ATG13 semapv:UnspecifiedMatching OMIM:615088 ATG13 skos:exactMatch ncbigene:9776 semapv:UnspecifiedMatching -OMIM:615089 ATG101 skos:exactMatch hgnc:ATG101 semapv:UnspecifiedMatching +OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:25679 semapv:UnspecifiedMatching +OMIM:615089 ATG101 skos:exactMatch hgnc.symbol:ATG101 semapv:UnspecifiedMatching OMIM:615089 ATG101 skos:exactMatch ncbigene:60673 semapv:UnspecifiedMatching OMIM:615090 IFNL4 skos:exactMatch UMLS:C3541708 semapv:UnspecifiedMatching -OMIM:615090 IFNL4 skos:exactMatch hgnc:IFNL4 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:44480 semapv:UnspecifiedMatching +OMIM:615090 IFNL4 skos:exactMatch hgnc.symbol:IFNL4 semapv:UnspecifiedMatching OMIM:615090 IFNL4 skos:exactMatch ncbigene:101180976 semapv:UnspecifiedMatching -OMIM:615093 LY6K skos:exactMatch hgnc:LY6K semapv:UnspecifiedMatching +OMIM:615093 LY6K skos:exactMatch hgnc.symbol:24225 semapv:UnspecifiedMatching +OMIM:615093 LY6K skos:exactMatch hgnc.symbol:LY6K semapv:UnspecifiedMatching OMIM:615093 LY6K skos:exactMatch ncbigene:54742 semapv:UnspecifiedMatching -OMIM:615094 PROX2 skos:exactMatch hgnc:PROX2 semapv:UnspecifiedMatching +OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:26715 semapv:UnspecifiedMatching +OMIM:615094 PROX2 skos:exactMatch hgnc.symbol:PROX2 semapv:UnspecifiedMatching OMIM:615094 PROX2 skos:exactMatch ncbigene:283571 semapv:UnspecifiedMatching +OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch Orphanet:329228 semapv:UnspecifiedMatching OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch UMLS:C3554499 semapv:UnspecifiedMatching -OMIM:615095 microcephaly 10, primary, autosomal recessive skos:exactMatch orphanet.ordo:329228 semapv:UnspecifiedMatching -OMIM:615096 MIR217 skos:exactMatch hgnc:MIR217 semapv:UnspecifiedMatching +OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:31594 semapv:UnspecifiedMatching +OMIM:615096 MIR217 skos:exactMatch hgnc.symbol:MIR217 semapv:UnspecifiedMatching OMIM:615096 MIR217 skos:exactMatch ncbigene:406999 semapv:UnspecifiedMatching -OMIM:615097 SLC6A13 skos:exactMatch hgnc:SLC6A13 semapv:UnspecifiedMatching +OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:11046 semapv:UnspecifiedMatching +OMIM:615097 SLC6A13 skos:exactMatch hgnc.symbol:SLC6A13 semapv:UnspecifiedMatching OMIM:615097 SLC6A13 skos:exactMatch ncbigene:6540 semapv:UnspecifiedMatching -OMIM:615098 TTC28 skos:exactMatch hgnc:TTC28 semapv:UnspecifiedMatching +OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:29179 semapv:UnspecifiedMatching +OMIM:615098 TTC28 skos:exactMatch hgnc.symbol:TTC28 semapv:UnspecifiedMatching OMIM:615098 TTC28 skos:exactMatch ncbigene:23331 semapv:UnspecifiedMatching OMIM:615099 ERFE skos:exactMatch UMLS:C2239422 semapv:UnspecifiedMatching -OMIM:615099 ERFE skos:exactMatch hgnc:ERFE semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch hgnc.symbol:26727 semapv:UnspecifiedMatching +OMIM:615099 ERFE skos:exactMatch hgnc.symbol:ERFE semapv:UnspecifiedMatching OMIM:615099 ERFE skos:exactMatch ncbigene:151176 semapv:UnspecifiedMatching -OMIM:615100 CTTNBP2NL skos:exactMatch hgnc:CTTNBP2NL semapv:UnspecifiedMatching +OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:25330 semapv:UnspecifiedMatching +OMIM:615100 CTTNBP2NL skos:exactMatch hgnc.symbol:CTTNBP2NL semapv:UnspecifiedMatching OMIM:615100 CTTNBP2NL skos:exactMatch ncbigene:55917 semapv:UnspecifiedMatching -OMIM:615101 TUBB2A skos:exactMatch hgnc:TUBB2A semapv:UnspecifiedMatching +OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:12412 semapv:UnspecifiedMatching +OMIM:615101 TUBB2A skos:exactMatch hgnc.symbol:TUBB2A semapv:UnspecifiedMatching OMIM:615101 TUBB2A skos:exactMatch ncbigene:7280 semapv:UnspecifiedMatching -OMIM:615103 TUBB6 skos:exactMatch hgnc:TUBB6 semapv:UnspecifiedMatching +OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:20776 semapv:UnspecifiedMatching +OMIM:615103 TUBB6 skos:exactMatch hgnc.symbol:TUBB6 semapv:UnspecifiedMatching OMIM:615103 TUBB6 skos:exactMatch ncbigene:84617 semapv:UnspecifiedMatching -OMIM:615104 NCKAP5L skos:exactMatch hgnc:NCKAP5L semapv:UnspecifiedMatching +OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:29321 semapv:UnspecifiedMatching +OMIM:615104 NCKAP5L skos:exactMatch hgnc.symbol:NCKAP5L semapv:UnspecifiedMatching OMIM:615104 NCKAP5L skos:exactMatch ncbigene:57701 semapv:UnspecifiedMatching -OMIM:615105 MRI1 skos:exactMatch hgnc:MRI1 semapv:UnspecifiedMatching +OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:28469 semapv:UnspecifiedMatching +OMIM:615105 MRI1 skos:exactMatch hgnc.symbol:MRI1 semapv:UnspecifiedMatching OMIM:615105 MRI1 skos:exactMatch ncbigene:84245 semapv:UnspecifiedMatching -OMIM:615110 WDR53 skos:exactMatch hgnc:WDR53 semapv:UnspecifiedMatching +OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:28786 semapv:UnspecifiedMatching +OMIM:615110 WDR53 skos:exactMatch hgnc.symbol:WDR53 semapv:UnspecifiedMatching OMIM:615110 WDR53 skos:exactMatch ncbigene:348793 semapv:UnspecifiedMatching -OMIM:615111 DENND2D skos:exactMatch hgnc:DENND2D semapv:UnspecifiedMatching +OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:26192 semapv:UnspecifiedMatching +OMIM:615111 DENND2D skos:exactMatch hgnc.symbol:DENND2D semapv:UnspecifiedMatching OMIM:615111 DENND2D skos:exactMatch ncbigene:79961 semapv:UnspecifiedMatching -OMIM:615114 ZNF516 skos:exactMatch hgnc:ZNF516 semapv:UnspecifiedMatching +OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:28990 semapv:UnspecifiedMatching +OMIM:615114 ZNF516 skos:exactMatch hgnc.symbol:ZNF516 semapv:UnspecifiedMatching OMIM:615114 ZNF516 skos:exactMatch ncbigene:9658 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch UMLS:C2239906 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch UMLS:C3809650 semapv:UnspecifiedMatching -OMIM:615115 ASXL3 skos:exactMatch hgnc:ASXL3 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:29357 semapv:UnspecifiedMatching +OMIM:615115 ASXL3 skos:exactMatch hgnc.symbol:ASXL3 semapv:UnspecifiedMatching OMIM:615115 ASXL3 skos:exactMatch ncbigene:80816 semapv:UnspecifiedMatching -OMIM:615116 SPEM1 skos:exactMatch hgnc:SPEM1 semapv:UnspecifiedMatching +OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:32429 semapv:UnspecifiedMatching +OMIM:615116 SPEM1 skos:exactMatch hgnc.symbol:SPEM1 semapv:UnspecifiedMatching OMIM:615116 SPEM1 skos:exactMatch ncbigene:374768 semapv:UnspecifiedMatching -OMIM:615117 C2ORF88 skos:exactMatch hgnc:C2orf88 semapv:UnspecifiedMatching +OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:28191 semapv:UnspecifiedMatching +OMIM:615117 C2ORF88 skos:exactMatch hgnc.symbol:C2orf88 semapv:UnspecifiedMatching OMIM:615117 C2ORF88 skos:exactMatch ncbigene:84281 semapv:UnspecifiedMatching +OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching -OMIM:615119 mitochondrial complex 4 deficiency, nuclear iia 6 skos:exactMatch orphanet.ordo:1561 semapv:UnspecifiedMatching -OMIM:615123 ANKRD13A skos:exactMatch hgnc:ANKRD13A semapv:UnspecifiedMatching +OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:21268 semapv:UnspecifiedMatching +OMIM:615123 ANKRD13A skos:exactMatch hgnc.symbol:ANKRD13A semapv:UnspecifiedMatching OMIM:615123 ANKRD13A skos:exactMatch ncbigene:88455 semapv:UnspecifiedMatching -OMIM:615124 ANKRD13B skos:exactMatch hgnc:ANKRD13B semapv:UnspecifiedMatching +OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:26363 semapv:UnspecifiedMatching +OMIM:615124 ANKRD13B skos:exactMatch hgnc.symbol:ANKRD13B semapv:UnspecifiedMatching OMIM:615124 ANKRD13B skos:exactMatch ncbigene:124930 semapv:UnspecifiedMatching -OMIM:615125 ANKRD13C skos:exactMatch hgnc:ANKRD13C semapv:UnspecifiedMatching +OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:25374 semapv:UnspecifiedMatching +OMIM:615125 ANKRD13C skos:exactMatch hgnc.symbol:ANKRD13C semapv:UnspecifiedMatching OMIM:615125 ANKRD13C skos:exactMatch ncbigene:81573 semapv:UnspecifiedMatching -OMIM:615126 ANKRD13D skos:exactMatch hgnc:ANKRD13D semapv:UnspecifiedMatching +OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:27880 semapv:UnspecifiedMatching +OMIM:615126 ANKRD13D skos:exactMatch hgnc.symbol:ANKRD13D semapv:UnspecifiedMatching OMIM:615126 ANKRD13D skos:exactMatch ncbigene:338692 semapv:UnspecifiedMatching -OMIM:615128 CENPX skos:exactMatch hgnc:CENPX semapv:UnspecifiedMatching +OMIM:615128 CENPX skos:exactMatch hgnc.symbol:11422 semapv:UnspecifiedMatching +OMIM:615128 CENPX skos:exactMatch hgnc.symbol:CENPX semapv:UnspecifiedMatching OMIM:615128 CENPX skos:exactMatch ncbigene:201254 semapv:UnspecifiedMatching -OMIM:615129 GALNT5 skos:exactMatch hgnc:GALNT5 semapv:UnspecifiedMatching +OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:4127 semapv:UnspecifiedMatching +OMIM:615129 GALNT5 skos:exactMatch hgnc.symbol:GALNT5 semapv:UnspecifiedMatching OMIM:615129 GALNT5 skos:exactMatch ncbigene:11227 semapv:UnspecifiedMatching -OMIM:615130 GALNT11 skos:exactMatch hgnc:GALNT11 semapv:UnspecifiedMatching +OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:19875 semapv:UnspecifiedMatching +OMIM:615130 GALNT11 skos:exactMatch hgnc.symbol:GALNT11 semapv:UnspecifiedMatching OMIM:615130 GALNT11 skos:exactMatch ncbigene:63917 semapv:UnspecifiedMatching OMIM:615131 GALNT15 skos:exactMatch UMLS:C1427591 semapv:UnspecifiedMatching -OMIM:615131 GALNT15 skos:exactMatch hgnc:GALNT15 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:21531 semapv:UnspecifiedMatching +OMIM:615131 GALNT15 skos:exactMatch hgnc.symbol:GALNT15 semapv:UnspecifiedMatching OMIM:615131 GALNT15 skos:exactMatch ncbigene:117248 semapv:UnspecifiedMatching -OMIM:615132 GALNT16 skos:exactMatch hgnc:GALNT16 semapv:UnspecifiedMatching +OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:23233 semapv:UnspecifiedMatching +OMIM:615132 GALNT16 skos:exactMatch hgnc.symbol:GALNT16 semapv:UnspecifiedMatching OMIM:615132 GALNT16 skos:exactMatch ncbigene:57452 semapv:UnspecifiedMatching -OMIM:615133 GALNTL5 skos:exactMatch hgnc:GALNTL5 semapv:UnspecifiedMatching +OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:21725 semapv:UnspecifiedMatching +OMIM:615133 GALNTL5 skos:exactMatch hgnc.symbol:GALNTL5 semapv:UnspecifiedMatching OMIM:615133 GALNTL5 skos:exactMatch ncbigene:168391 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:268162 semapv:UnspecifiedMatching +OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch Orphanet:511 semapv:UnspecifiedMatching OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch UMLS:C3554575 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch orphanet.ordo:268162 semapv:UnspecifiedMatching -OMIM:615135 maple syrup urine disease, mild variant skos:exactMatch orphanet.ordo:511 semapv:UnspecifiedMatching -OMIM:615136 GALNT18 skos:exactMatch hgnc:GALNT18 semapv:UnspecifiedMatching +OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:30488 semapv:UnspecifiedMatching +OMIM:615136 GALNT18 skos:exactMatch hgnc.symbol:GALNT18 semapv:UnspecifiedMatching OMIM:615136 GALNT18 skos:exactMatch ncbigene:374378 semapv:UnspecifiedMatching -OMIM:615137 GALNT17 skos:exactMatch hgnc:GALNT17 semapv:UnspecifiedMatching +OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:16347 semapv:UnspecifiedMatching +OMIM:615137 GALNT17 skos:exactMatch hgnc.symbol:GALNT17 semapv:UnspecifiedMatching OMIM:615137 GALNT17 skos:exactMatch ncbigene:64409 semapv:UnspecifiedMatching -OMIM:615138 GALNTL6 skos:exactMatch hgnc:GALNTL6 semapv:UnspecifiedMatching +OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:33844 semapv:UnspecifiedMatching +OMIM:615138 GALNTL6 skos:exactMatch hgnc.symbol:GALNTL6 semapv:UnspecifiedMatching OMIM:615138 GALNTL6 skos:exactMatch ncbigene:442117 semapv:UnspecifiedMatching -OMIM:615140 C12ORF57 skos:exactMatch hgnc:C12orf57 semapv:UnspecifiedMatching +OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:29521 semapv:UnspecifiedMatching +OMIM:615140 C12ORF57 skos:exactMatch hgnc.symbol:C12orf57 semapv:UnspecifiedMatching OMIM:615140 C12ORF57 skos:exactMatch ncbigene:113246 semapv:UnspecifiedMatching -OMIM:615142 KIF2B skos:exactMatch hgnc:KIF2B semapv:UnspecifiedMatching +OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:29443 semapv:UnspecifiedMatching +OMIM:615142 KIF2B skos:exactMatch hgnc.symbol:KIF2B semapv:UnspecifiedMatching OMIM:615142 KIF2B skos:exactMatch ncbigene:84643 semapv:UnspecifiedMatching -OMIM:615143 USP20 skos:exactMatch hgnc:USP20 semapv:UnspecifiedMatching +OMIM:615143 USP20 skos:exactMatch hgnc.symbol:12619 semapv:UnspecifiedMatching +OMIM:615143 USP20 skos:exactMatch hgnc.symbol:USP20 semapv:UnspecifiedMatching OMIM:615143 USP20 skos:exactMatch ncbigene:10868 semapv:UnspecifiedMatching -OMIM:615144 PRSS55 skos:exactMatch hgnc:PRSS55 semapv:UnspecifiedMatching +OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:30824 semapv:UnspecifiedMatching +OMIM:615144 PRSS55 skos:exactMatch hgnc.symbol:PRSS55 semapv:UnspecifiedMatching OMIM:615144 PRSS55 skos:exactMatch ncbigene:203074 semapv:UnspecifiedMatching -OMIM:615146 USP33 skos:exactMatch hgnc:USP33 semapv:UnspecifiedMatching +OMIM:615146 USP33 skos:exactMatch hgnc.symbol:20059 semapv:UnspecifiedMatching +OMIM:615146 USP33 skos:exactMatch hgnc.symbol:USP33 semapv:UnspecifiedMatching OMIM:615146 USP33 skos:exactMatch ncbigene:23032 semapv:UnspecifiedMatching -OMIM:615148 MIR551A skos:exactMatch hgnc:MIR551A semapv:UnspecifiedMatching +OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:32806 semapv:UnspecifiedMatching +OMIM:615148 MIR551A skos:exactMatch hgnc.symbol:MIR551A semapv:UnspecifiedMatching OMIM:615148 MIR551A skos:exactMatch ncbigene:693135 semapv:UnspecifiedMatching -OMIM:615149 MIR495 skos:exactMatch hgnc:MIR495 semapv:UnspecifiedMatching +OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:32085 semapv:UnspecifiedMatching +OMIM:615149 MIR495 skos:exactMatch hgnc.symbol:MIR495 semapv:UnspecifiedMatching OMIM:615149 MIR495 skos:exactMatch ncbigene:574453 semapv:UnspecifiedMatching -OMIM:615150 MIR191 skos:exactMatch hgnc:MIR191 semapv:UnspecifiedMatching +OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:31561 semapv:UnspecifiedMatching +OMIM:615150 MIR191 skos:exactMatch hgnc.symbol:MIR191 semapv:UnspecifiedMatching OMIM:615150 MIR191 skos:exactMatch ncbigene:406966 semapv:UnspecifiedMatching -OMIM:615151 MIR30C1 skos:exactMatch hgnc:MIR30C1 semapv:UnspecifiedMatching +OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:31626 semapv:UnspecifiedMatching +OMIM:615151 MIR30C1 skos:exactMatch hgnc.symbol:MIR30C1 semapv:UnspecifiedMatching OMIM:615151 MIR30C1 skos:exactMatch ncbigene:407031 semapv:UnspecifiedMatching -OMIM:615152 KLHDC10 skos:exactMatch hgnc:KLHDC10 semapv:UnspecifiedMatching +OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:22194 semapv:UnspecifiedMatching +OMIM:615152 KLHDC10 skos:exactMatch hgnc.symbol:KLHDC10 semapv:UnspecifiedMatching OMIM:615152 KLHDC10 skos:exactMatch ncbigene:23008 semapv:UnspecifiedMatching -OMIM:615153 MLKL skos:exactMatch hgnc:MLKL semapv:UnspecifiedMatching +OMIM:615153 MLKL skos:exactMatch hgnc.symbol:26617 semapv:UnspecifiedMatching +OMIM:615153 MLKL skos:exactMatch hgnc.symbol:MLKL semapv:UnspecifiedMatching OMIM:615153 MLKL skos:exactMatch ncbigene:197259 semapv:UnspecifiedMatching -OMIM:615154 DYDC1 skos:exactMatch hgnc:DYDC1 semapv:UnspecifiedMatching +OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:23460 semapv:UnspecifiedMatching +OMIM:615154 DYDC1 skos:exactMatch hgnc.symbol:DYDC1 semapv:UnspecifiedMatching OMIM:615154 DYDC1 skos:exactMatch ncbigene:143241 semapv:UnspecifiedMatching -OMIM:615161 HLA-DQB2 skos:exactMatch hgnc:HLA-DQB2 semapv:UnspecifiedMatching +OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:4945 semapv:UnspecifiedMatching +OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:HLA-DQB2 semapv:UnspecifiedMatching OMIM:615161 HLA-DQB2 skos:exactMatch ncbigene:3120 semapv:UnspecifiedMatching -OMIM:615164 AKIRIN1 skos:exactMatch hgnc:AKIRIN1 semapv:UnspecifiedMatching +OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:25744 semapv:UnspecifiedMatching +OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:AKIRIN1 semapv:UnspecifiedMatching OMIM:615164 AKIRIN1 skos:exactMatch ncbigene:79647 semapv:UnspecifiedMatching -OMIM:615165 AKIRIN2 skos:exactMatch hgnc:AKIRIN2 semapv:UnspecifiedMatching +OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:21407 semapv:UnspecifiedMatching +OMIM:615165 AKIRIN2 skos:exactMatch hgnc.symbol:AKIRIN2 semapv:UnspecifiedMatching OMIM:615165 AKIRIN2 skos:exactMatch ncbigene:55122 semapv:UnspecifiedMatching -OMIM:615166 CMC1 skos:exactMatch hgnc:CMC1 semapv:UnspecifiedMatching +OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:28783 semapv:UnspecifiedMatching +OMIM:615166 CMC1 skos:exactMatch hgnc.symbol:CMC1 semapv:UnspecifiedMatching OMIM:615166 CMC1 skos:exactMatch ncbigene:152100 semapv:UnspecifiedMatching -OMIM:615167 LRWD1 skos:exactMatch hgnc:LRWD1 semapv:UnspecifiedMatching +OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:21769 semapv:UnspecifiedMatching +OMIM:615167 LRWD1 skos:exactMatch hgnc.symbol:LRWD1 semapv:UnspecifiedMatching OMIM:615167 LRWD1 skos:exactMatch ncbigene:222229 semapv:UnspecifiedMatching OMIM:615168 AMZ1 skos:exactMatch UMLS:C2239529 semapv:UnspecifiedMatching -OMIM:615168 AMZ1 skos:exactMatch hgnc:AMZ1 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:22231 semapv:UnspecifiedMatching +OMIM:615168 AMZ1 skos:exactMatch hgnc.symbol:AMZ1 semapv:UnspecifiedMatching OMIM:615168 AMZ1 skos:exactMatch ncbigene:155185 semapv:UnspecifiedMatching -OMIM:615169 AMZ2 skos:exactMatch hgnc:AMZ2 semapv:UnspecifiedMatching +OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:28041 semapv:UnspecifiedMatching +OMIM:615169 AMZ2 skos:exactMatch hgnc.symbol:AMZ2 semapv:UnspecifiedMatching OMIM:615169 AMZ2 skos:exactMatch ncbigene:51321 semapv:UnspecifiedMatching OMIM:615171 loc100134040 gene skos:exactMatch ncbigene:100134040 semapv:UnspecifiedMatching -OMIM:615172 RNFT1 skos:exactMatch hgnc:RNFT1 semapv:UnspecifiedMatching +OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:30206 semapv:UnspecifiedMatching +OMIM:615172 RNFT1 skos:exactMatch hgnc.symbol:RNFT1 semapv:UnspecifiedMatching OMIM:615172 RNFT1 skos:exactMatch ncbigene:51136 semapv:UnspecifiedMatching -OMIM:615173 LINC-ROR skos:exactMatch hgnc:LINC-ROR semapv:UnspecifiedMatching +OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:43773 semapv:UnspecifiedMatching +OMIM:615173 LINC-ROR skos:exactMatch hgnc.symbol:LINC-ROR semapv:UnspecifiedMatching OMIM:615173 LINC-ROR skos:exactMatch ncbigene:100885779 semapv:UnspecifiedMatching -OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc:TDH semapv:UnspecifiedMatching +OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:15547 semapv:UnspecifiedMatching +OMIM:615174 l-threonine dehydrogenase, pseudogene skos:exactMatch hgnc.symbol:TDH semapv:UnspecifiedMatching OMIM:615175 TLCD3B skos:exactMatch UMLS:C1539464 semapv:UnspecifiedMatching -OMIM:615175 TLCD3B skos:exactMatch hgnc:TLCD3B semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:25295 semapv:UnspecifiedMatching +OMIM:615175 TLCD3B skos:exactMatch hgnc.symbol:TLCD3B semapv:UnspecifiedMatching OMIM:615175 TLCD3B skos:exactMatch ncbigene:83723 semapv:UnspecifiedMatching -OMIM:615176 NPTNIT1 skos:exactMatch hgnc:NPTN-IT1 semapv:UnspecifiedMatching +OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:45091 semapv:UnspecifiedMatching +OMIM:615176 NPTNIT1 skos:exactMatch hgnc.symbol:NPTN-IT1 semapv:UnspecifiedMatching OMIM:615176 NPTNIT1 skos:exactMatch ncbigene:101241892 semapv:UnspecifiedMatching -OMIM:615177 RNF126 skos:exactMatch hgnc:RNF126 semapv:UnspecifiedMatching +OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:21151 semapv:UnspecifiedMatching +OMIM:615177 RNF126 skos:exactMatch hgnc.symbol:RNF126 semapv:UnspecifiedMatching OMIM:615177 RNF126 skos:exactMatch ncbigene:55658 semapv:UnspecifiedMatching -OMIM:615178 KXD1 skos:exactMatch hgnc:KXD1 semapv:UnspecifiedMatching +OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:28420 semapv:UnspecifiedMatching +OMIM:615178 KXD1 skos:exactMatch hgnc.symbol:KXD1 semapv:UnspecifiedMatching OMIM:615178 KXD1 skos:exactMatch ncbigene:79036 semapv:UnspecifiedMatching OMIM:615180 TIMM21 skos:exactMatch UMLS:C3469993 semapv:UnspecifiedMatching -OMIM:615180 TIMM21 skos:exactMatch hgnc:TIMM21 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:25010 semapv:UnspecifiedMatching +OMIM:615180 TIMM21 skos:exactMatch hgnc.symbol:TIMM21 semapv:UnspecifiedMatching OMIM:615180 TIMM21 skos:exactMatch ncbigene:29090 semapv:UnspecifiedMatching -OMIM:615183 C1ORF86 skos:exactMatch hgnc:FAAP20 semapv:UnspecifiedMatching +OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:26428 semapv:UnspecifiedMatching +OMIM:615183 C1ORF86 skos:exactMatch hgnc.symbol:FAAP20 semapv:UnspecifiedMatching OMIM:615183 C1ORF86 skos:exactMatch ncbigene:199990 semapv:UnspecifiedMatching -OMIM:615186 CWC22 skos:exactMatch hgnc:CWC22 semapv:UnspecifiedMatching +OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:29322 semapv:UnspecifiedMatching +OMIM:615186 CWC22 skos:exactMatch hgnc.symbol:CWC22 semapv:UnspecifiedMatching OMIM:615186 CWC22 skos:exactMatch ncbigene:57703 semapv:UnspecifiedMatching -OMIM:615187 PGAP2 skos:exactMatch hgnc:PGAP2 semapv:UnspecifiedMatching +OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:17893 semapv:UnspecifiedMatching +OMIM:615187 PGAP2 skos:exactMatch hgnc.symbol:PGAP2 semapv:UnspecifiedMatching OMIM:615187 PGAP2 skos:exactMatch ncbigene:27315 semapv:UnspecifiedMatching +OMIM:615188 cataract 39, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:615188 cataract 39, multiple types skos:exactMatch UMLS:C3808800 semapv:UnspecifiedMatching -OMIM:615188 cataract 39, multiple types skos:exactMatch orphanet.ordo:91492 semapv:UnspecifiedMatching -OMIM:615189 ANKRD55 skos:exactMatch hgnc:ANKRD55 semapv:UnspecifiedMatching +OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:25681 semapv:UnspecifiedMatching +OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:ANKRD55 semapv:UnspecifiedMatching OMIM:615189 ANKRD55 skos:exactMatch ncbigene:79722 semapv:UnspecifiedMatching -OMIM:615194 DHRS2 skos:exactMatch hgnc:DHRS2 semapv:UnspecifiedMatching +OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:18349 semapv:UnspecifiedMatching +OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:DHRS2 semapv:UnspecifiedMatching OMIM:615194 DHRS2 skos:exactMatch ncbigene:10202 semapv:UnspecifiedMatching -OMIM:615195 DHRS4L1 skos:exactMatch hgnc:DHRS4L1 semapv:UnspecifiedMatching +OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:19732 semapv:UnspecifiedMatching +OMIM:615195 DHRS4L1 skos:exactMatch hgnc.symbol:DHRS4L1 semapv:UnspecifiedMatching OMIM:615195 DHRS4L1 skos:exactMatch ncbigene:728635 semapv:UnspecifiedMatching -OMIM:615196 DHRS4L2 skos:exactMatch hgnc:DHRS4L2 semapv:UnspecifiedMatching +OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:19731 semapv:UnspecifiedMatching +OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:DHRS4L2 semapv:UnspecifiedMatching OMIM:615196 DHRS4L2 skos:exactMatch ncbigene:317749 semapv:UnspecifiedMatching +OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch UMLS:C3554665 semapv:UnspecifiedMatching -OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch orphanet.ordo:500548 semapv:UnspecifiedMatching -OMIM:615199 SLC35G5 skos:exactMatch hgnc:SLC35G5 semapv:UnspecifiedMatching +OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:15546 semapv:UnspecifiedMatching +OMIM:615199 SLC35G5 skos:exactMatch hgnc.symbol:SLC35G5 semapv:UnspecifiedMatching OMIM:615199 SLC35G5 skos:exactMatch ncbigene:83650 semapv:UnspecifiedMatching OMIM:615200 PLEKHF1 skos:exactMatch UMLS:C1427120 semapv:UnspecifiedMatching -OMIM:615200 PLEKHF1 skos:exactMatch hgnc:PLEKHF1 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:20764 semapv:UnspecifiedMatching +OMIM:615200 PLEKHF1 skos:exactMatch hgnc.symbol:PLEKHF1 semapv:UnspecifiedMatching OMIM:615200 PLEKHF1 skos:exactMatch ncbigene:79156 semapv:UnspecifiedMatching -OMIM:615201 MIR1909 skos:exactMatch hgnc:MIR1909 semapv:UnspecifiedMatching +OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:35393 semapv:UnspecifiedMatching +OMIM:615201 MIR1909 skos:exactMatch hgnc.symbol:MIR1909 semapv:UnspecifiedMatching OMIM:615201 MIR1909 skos:exactMatch ncbigene:100302210 semapv:UnspecifiedMatching -OMIM:615202 MIR1915 skos:exactMatch hgnc:MIR1915 semapv:UnspecifiedMatching +OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:35399 semapv:UnspecifiedMatching +OMIM:615202 MIR1915 skos:exactMatch hgnc.symbol:MIR1915 semapv:UnspecifiedMatching OMIM:615202 MIR1915 skos:exactMatch ncbigene:100302129 semapv:UnspecifiedMatching -OMIM:615203 RHBDD2 skos:exactMatch hgnc:RHBDD2 semapv:UnspecifiedMatching +OMIM:615203 RHBDD2 skos:exactMatch hgnc.symbol:23082 semapv:UnspecifiedMatching +OMIM:615203 RHBDD2 skos:exactMatch hgnc.symbol:RHBDD2 semapv:UnspecifiedMatching OMIM:615203 RHBDD2 skos:exactMatch ncbigene:57414 semapv:UnspecifiedMatching -OMIM:615204 ATP5MD skos:exactMatch hgnc:ATP5MK semapv:UnspecifiedMatching +OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:30889 semapv:UnspecifiedMatching +OMIM:615204 ATP5MD skos:exactMatch hgnc.symbol:ATP5MK semapv:UnspecifiedMatching OMIM:615204 ATP5MD skos:exactMatch ncbigene:84833 semapv:UnspecifiedMatching -OMIM:615205 SPINK13 skos:exactMatch hgnc:SPINK13 semapv:UnspecifiedMatching +OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:27200 semapv:UnspecifiedMatching +OMIM:615205 SPINK13 skos:exactMatch hgnc.symbol:SPINK13 semapv:UnspecifiedMatching OMIM:615205 SPINK13 skos:exactMatch ncbigene:153218 semapv:UnspecifiedMatching -OMIM:615208 PLEKHF2 skos:exactMatch hgnc:PLEKHF2 semapv:UnspecifiedMatching +OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:20757 semapv:UnspecifiedMatching +OMIM:615208 PLEKHF2 skos:exactMatch hgnc.symbol:PLEKHF2 semapv:UnspecifiedMatching OMIM:615208 PLEKHF2 skos:exactMatch ncbigene:79666 semapv:UnspecifiedMatching -OMIM:615209 MIR149 skos:exactMatch hgnc:MIR149 semapv:UnspecifiedMatching +OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:31536 semapv:UnspecifiedMatching +OMIM:615209 MIR149 skos:exactMatch hgnc.symbol:MIR149 semapv:UnspecifiedMatching OMIM:615209 MIR149 skos:exactMatch ncbigene:406941 semapv:UnspecifiedMatching -OMIM:615210 PCNP skos:exactMatch hgnc:PCNP semapv:UnspecifiedMatching +OMIM:615210 PCNP skos:exactMatch hgnc.symbol:30023 semapv:UnspecifiedMatching +OMIM:615210 PCNP skos:exactMatch hgnc.symbol:PCNP semapv:UnspecifiedMatching OMIM:615210 PCNP skos:exactMatch ncbigene:57092 semapv:UnspecifiedMatching -OMIM:615211 UHRF2 skos:exactMatch hgnc:UHRF2 semapv:UnspecifiedMatching +OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:12557 semapv:UnspecifiedMatching +OMIM:615211 UHRF2 skos:exactMatch hgnc.symbol:UHRF2 semapv:UnspecifiedMatching OMIM:615211 UHRF2 skos:exactMatch ncbigene:115426 semapv:UnspecifiedMatching -OMIM:615212 LRRC38 skos:exactMatch hgnc:LRRC38 semapv:UnspecifiedMatching +OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:27005 semapv:UnspecifiedMatching +OMIM:615212 LRRC38 skos:exactMatch hgnc.symbol:LRRC38 semapv:UnspecifiedMatching OMIM:615212 LRRC38 skos:exactMatch ncbigene:126755 semapv:UnspecifiedMatching -OMIM:615213 LRRC55 skos:exactMatch hgnc:LRRC55 semapv:UnspecifiedMatching +OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:32324 semapv:UnspecifiedMatching +OMIM:615213 LRRC55 skos:exactMatch hgnc.symbol:LRRC55 semapv:UnspecifiedMatching OMIM:615213 LRRC55 skos:exactMatch ncbigene:219527 semapv:UnspecifiedMatching -OMIM:615215 KCNU1 skos:exactMatch hgnc:KCNU1 semapv:UnspecifiedMatching +OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:18867 semapv:UnspecifiedMatching +OMIM:615215 KCNU1 skos:exactMatch hgnc.symbol:KCNU1 semapv:UnspecifiedMatching OMIM:615215 KCNU1 skos:exactMatch ncbigene:157855 semapv:UnspecifiedMatching -OMIM:615216 KIFC2 skos:exactMatch hgnc:KIFC2 semapv:UnspecifiedMatching +OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:29530 semapv:UnspecifiedMatching +OMIM:615216 KIFC2 skos:exactMatch hgnc.symbol:KIFC2 semapv:UnspecifiedMatching OMIM:615216 KIFC2 skos:exactMatch ncbigene:90990 semapv:UnspecifiedMatching -OMIM:615218 LRRC52 skos:exactMatch hgnc:LRRC52 semapv:UnspecifiedMatching +OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:32156 semapv:UnspecifiedMatching +OMIM:615218 LRRC52 skos:exactMatch hgnc.symbol:LRRC52 semapv:UnspecifiedMatching OMIM:615218 LRRC52 skos:exactMatch ncbigene:440699 semapv:UnspecifiedMatching -OMIM:615223 IFNE skos:exactMatch hgnc:IFNE semapv:UnspecifiedMatching +OMIM:615223 IFNE skos:exactMatch hgnc.symbol:18163 semapv:UnspecifiedMatching +OMIM:615223 IFNE skos:exactMatch hgnc.symbol:IFNE semapv:UnspecifiedMatching OMIM:615223 IFNE skos:exactMatch ncbigene:338376 semapv:UnspecifiedMatching +OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch Orphanet:352662 semapv:UnspecifiedMatching OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch UMLS:C3808876 semapv:UnspecifiedMatching -OMIM:615225 palmoplantar carcinoma, multiple self-healing skos:exactMatch orphanet.ordo:352662 semapv:UnspecifiedMatching -OMIM:615227 C1QL3 skos:exactMatch hgnc:C1QL3 semapv:UnspecifiedMatching +OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:19359 semapv:UnspecifiedMatching +OMIM:615227 C1QL3 skos:exactMatch hgnc.symbol:C1QL3 semapv:UnspecifiedMatching OMIM:615227 C1QL3 skos:exactMatch ncbigene:389941 semapv:UnspecifiedMatching +OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch Orphanet:254913 semapv:UnspecifiedMatching OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch UMLS:C3808899 semapv:UnspecifiedMatching -OMIM:615228 mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4b skos:exactMatch orphanet.ordo:254913 semapv:UnspecifiedMatching -OMIM:615229 C1QL4 skos:exactMatch hgnc:C1QL4 semapv:UnspecifiedMatching +OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:31416 semapv:UnspecifiedMatching +OMIM:615229 C1QL4 skos:exactMatch hgnc.symbol:C1QL4 semapv:UnspecifiedMatching OMIM:615229 C1QL4 skos:exactMatch ncbigene:338761 semapv:UnspecifiedMatching -OMIM:615230 LINC01080 skos:exactMatch hgnc:LINC01080 semapv:UnspecifiedMatching +OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:49123 semapv:UnspecifiedMatching +OMIM:615230 LINC01080 skos:exactMatch hgnc.symbol:LINC01080 semapv:UnspecifiedMatching OMIM:615230 LINC01080 skos:exactMatch ncbigene:101515984 semapv:UnspecifiedMatching -OMIM:615231 RC3H2 skos:exactMatch hgnc:RC3H2 semapv:UnspecifiedMatching +OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:21461 semapv:UnspecifiedMatching +OMIM:615231 RC3H2 skos:exactMatch hgnc.symbol:RC3H2 semapv:UnspecifiedMatching OMIM:615231 RC3H2 skos:exactMatch ncbigene:54542 semapv:UnspecifiedMatching -OMIM:615239 MIR7-1 skos:exactMatch hgnc:MIR7-1 semapv:UnspecifiedMatching +OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:31638 semapv:UnspecifiedMatching +OMIM:615239 MIR7-1 skos:exactMatch hgnc.symbol:MIR7-1 semapv:UnspecifiedMatching OMIM:615239 MIR7-1 skos:exactMatch ncbigene:407043 semapv:UnspecifiedMatching -OMIM:615240 KCTD15 skos:exactMatch hgnc:KCTD15 semapv:UnspecifiedMatching +OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:23297 semapv:UnspecifiedMatching +OMIM:615240 KCTD15 skos:exactMatch hgnc.symbol:KCTD15 semapv:UnspecifiedMatching OMIM:615240 KCTD15 skos:exactMatch ncbigene:79047 semapv:UnspecifiedMatching -OMIM:615241 TINCR skos:exactMatch hgnc:TINCR semapv:UnspecifiedMatching +OMIM:615241 TINCR skos:exactMatch hgnc.symbol:14607 semapv:UnspecifiedMatching +OMIM:615241 TINCR skos:exactMatch hgnc.symbol:TINCR semapv:UnspecifiedMatching OMIM:615241 TINCR skos:exactMatch ncbigene:257000 semapv:UnspecifiedMatching -OMIM:615242 SMIM1 skos:exactMatch hgnc:SMIM1 semapv:UnspecifiedMatching +OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:44204 semapv:UnspecifiedMatching +OMIM:615242 SMIM1 skos:exactMatch hgnc.symbol:SMIM1 semapv:UnspecifiedMatching OMIM:615242 SMIM1 skos:exactMatch ncbigene:388588 semapv:UnspecifiedMatching -OMIM:615243 DEFB114 skos:exactMatch hgnc:DEFB114 semapv:UnspecifiedMatching +OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:18095 semapv:UnspecifiedMatching +OMIM:615243 DEFB114 skos:exactMatch hgnc.symbol:DEFB114 semapv:UnspecifiedMatching OMIM:615243 DEFB114 skos:exactMatch ncbigene:245928 semapv:UnspecifiedMatching -OMIM:615245 MIR671 skos:exactMatch hgnc:MIR671 semapv:UnspecifiedMatching +OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:33134 semapv:UnspecifiedMatching +OMIM:615245 MIR671 skos:exactMatch hgnc.symbol:MIR671 semapv:UnspecifiedMatching OMIM:615245 MIR671 skos:exactMatch ncbigene:768213 semapv:UnspecifiedMatching -OMIM:615246 ZBED2 skos:exactMatch hgnc:ZBED2 semapv:UnspecifiedMatching +OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:20710 semapv:UnspecifiedMatching +OMIM:615246 ZBED2 skos:exactMatch hgnc.symbol:ZBED2 semapv:UnspecifiedMatching OMIM:615246 ZBED2 skos:exactMatch ncbigene:79413 semapv:UnspecifiedMatching -OMIM:615247 POMK skos:exactMatch hgnc:POMK semapv:UnspecifiedMatching +OMIM:615247 POMK skos:exactMatch hgnc.symbol:26267 semapv:UnspecifiedMatching +OMIM:615247 POMK skos:exactMatch hgnc.symbol:POMK semapv:UnspecifiedMatching OMIM:615247 POMK skos:exactMatch ncbigene:84197 semapv:UnspecifiedMatching -OMIM:615250 ZBED3 skos:exactMatch hgnc:ZBED3 semapv:UnspecifiedMatching +OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:20711 semapv:UnspecifiedMatching +OMIM:615250 ZBED3 skos:exactMatch hgnc.symbol:ZBED3 semapv:UnspecifiedMatching OMIM:615250 ZBED3 skos:exactMatch ncbigene:84327 semapv:UnspecifiedMatching -OMIM:615251 ZBED5 skos:exactMatch hgnc:ZBED5 semapv:UnspecifiedMatching +OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:30803 semapv:UnspecifiedMatching +OMIM:615251 ZBED5 skos:exactMatch hgnc.symbol:ZBED5 semapv:UnspecifiedMatching OMIM:615251 ZBED5 skos:exactMatch ncbigene:58486 semapv:UnspecifiedMatching -OMIM:615252 ZBED6CL skos:exactMatch hgnc:ZBED10P semapv:UnspecifiedMatching +OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:21720 semapv:UnspecifiedMatching +OMIM:615252 ZBED6CL skos:exactMatch hgnc.symbol:ZBED10P semapv:UnspecifiedMatching OMIM:615252 ZBED6CL skos:exactMatch ncbigene:113763 semapv:UnspecifiedMatching -OMIM:615253 ZBED8 skos:exactMatch hgnc:FAM200C semapv:UnspecifiedMatching +OMIM:615253 ZBED8 skos:exactMatch hgnc.symbol:FAM200C semapv:UnspecifiedMatching OMIM:615253 ZBED8 skos:exactMatch ncbigene:63920 semapv:UnspecifiedMatching -OMIM:615254 SCAND3 skos:exactMatch hgnc:SCAND3 semapv:UnspecifiedMatching +OMIM:615254 SCAND3 skos:exactMatch hgnc.symbol:SCAND3 semapv:UnspecifiedMatching OMIM:615254 SCAND3 skos:exactMatch ncbigene:114821 semapv:UnspecifiedMatching -OMIM:615255 METTL18 skos:exactMatch hgnc:METTL18 semapv:UnspecifiedMatching +OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:28793 semapv:UnspecifiedMatching +OMIM:615255 METTL18 skos:exactMatch hgnc.symbol:METTL18 semapv:UnspecifiedMatching OMIM:615255 METTL18 skos:exactMatch ncbigene:92342 semapv:UnspecifiedMatching -OMIM:615256 ETFBKMT skos:exactMatch hgnc:ETFBKMT semapv:UnspecifiedMatching +OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:28739 semapv:UnspecifiedMatching +OMIM:615256 ETFBKMT skos:exactMatch hgnc.symbol:ETFBKMT semapv:UnspecifiedMatching OMIM:615256 ETFBKMT skos:exactMatch ncbigene:254013 semapv:UnspecifiedMatching -OMIM:615257 METTL21A skos:exactMatch hgnc:METTL21A semapv:UnspecifiedMatching +OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:30476 semapv:UnspecifiedMatching +OMIM:615257 METTL21A skos:exactMatch hgnc.symbol:METTL21A semapv:UnspecifiedMatching OMIM:615257 METTL21A skos:exactMatch ncbigene:151194 semapv:UnspecifiedMatching -OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc:EEF1AKMT3 semapv:UnspecifiedMatching +OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:24936 semapv:UnspecifiedMatching +OMIM:615258 EEF1AKMT3 skos:exactMatch hgnc.symbol:EEF1AKMT3 semapv:UnspecifiedMatching OMIM:615258 EEF1AKMT3 skos:exactMatch ncbigene:25895 semapv:UnspecifiedMatching -OMIM:615259 METTL21C skos:exactMatch hgnc:METTL21C semapv:UnspecifiedMatching +OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:33717 semapv:UnspecifiedMatching +OMIM:615259 METTL21C skos:exactMatch hgnc.symbol:METTL21C semapv:UnspecifiedMatching OMIM:615259 METTL21C skos:exactMatch ncbigene:196541 semapv:UnspecifiedMatching -OMIM:615260 VCPKMT skos:exactMatch hgnc:VCPKMT semapv:UnspecifiedMatching +OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:20352 semapv:UnspecifiedMatching +OMIM:615260 VCPKMT skos:exactMatch hgnc.symbol:VCPKMT semapv:UnspecifiedMatching OMIM:615260 VCPKMT skos:exactMatch ncbigene:79609 semapv:UnspecifiedMatching -OMIM:615261 METTL22 skos:exactMatch hgnc:METTL22 semapv:UnspecifiedMatching +OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:28368 semapv:UnspecifiedMatching +OMIM:615261 METTL22 skos:exactMatch hgnc.symbol:METTL22 semapv:UnspecifiedMatching OMIM:615261 METTL22 skos:exactMatch ncbigene:79091 semapv:UnspecifiedMatching -OMIM:615262 METTL23 skos:exactMatch hgnc:METTL23 semapv:UnspecifiedMatching +OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:26988 semapv:UnspecifiedMatching +OMIM:615262 METTL23 skos:exactMatch hgnc.symbol:METTL23 semapv:UnspecifiedMatching OMIM:615262 METTL23 skos:exactMatch ncbigene:124512 semapv:UnspecifiedMatching -OMIM:615263 EEF2KMT skos:exactMatch hgnc:EEF2KMT semapv:UnspecifiedMatching +OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:32221 semapv:UnspecifiedMatching +OMIM:615263 EEF2KMT skos:exactMatch hgnc.symbol:EEF2KMT semapv:UnspecifiedMatching OMIM:615263 EEF2KMT skos:exactMatch ncbigene:196483 semapv:UnspecifiedMatching -OMIM:615265 FNBP4 skos:exactMatch hgnc:FNBP4 semapv:UnspecifiedMatching +OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:19752 semapv:UnspecifiedMatching +OMIM:615265 FNBP4 skos:exactMatch hgnc.symbol:FNBP4 semapv:UnspecifiedMatching OMIM:615265 FNBP4 skos:exactMatch ncbigene:23360 semapv:UnspecifiedMatching +OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:404454 semapv:UnspecifiedMatching OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch UMLS:C3808991 semapv:UnspecifiedMatching -OMIM:615273 congenital disorder of deglycosylation 1 skos:exactMatch orphanet.ordo:404454 semapv:UnspecifiedMatching OMIM:615275 ACOD1 skos:exactMatch UMLS:C2239547 semapv:UnspecifiedMatching -OMIM:615275 ACOD1 skos:exactMatch hgnc:ACOD1 semapv:UnspecifiedMatching +OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:33904 semapv:UnspecifiedMatching +OMIM:615275 ACOD1 skos:exactMatch hgnc.symbol:ACOD1 semapv:UnspecifiedMatching OMIM:615275 ACOD1 skos:exactMatch ncbigene:730249 semapv:UnspecifiedMatching -OMIM:615276 CERS3 skos:exactMatch hgnc:CERS3 semapv:UnspecifiedMatching +OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:23752 semapv:UnspecifiedMatching +OMIM:615276 CERS3 skos:exactMatch hgnc.symbol:CERS3 semapv:UnspecifiedMatching OMIM:615276 CERS3 skos:exactMatch ncbigene:204219 semapv:UnspecifiedMatching +OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch UMLS:C3809005 semapv:UnspecifiedMatching -OMIM:615278 cardiofaciocutaneous syndrome 2 skos:exactMatch orphanet.ordo:1340 semapv:UnspecifiedMatching +OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch UMLS:C3809006 semapv:UnspecifiedMatching -OMIM:615279 cardiofaciocutaneous syndrome 3 skos:exactMatch orphanet.ordo:1340 semapv:UnspecifiedMatching +OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch Orphanet:1340 semapv:UnspecifiedMatching OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch UMLS:C3809007 semapv:UnspecifiedMatching -OMIM:615280 cardiofaciocutaneous syndrome 4 skos:exactMatch orphanet.ordo:1340 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch UMLS:C1428397 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching -OMIM:615283 EXOC8 skos:exactMatch hgnc:EXOC8 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:24659 semapv:UnspecifiedMatching +OMIM:615283 EXOC8 skos:exactMatch hgnc.symbol:EXOC8 semapv:UnspecifiedMatching OMIM:615283 EXOC8 skos:exactMatch ncbigene:149371 semapv:UnspecifiedMatching +OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch Orphanet:363528 semapv:UnspecifiedMatching OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch UMLS:C3809039 semapv:UnspecifiedMatching -OMIM:615286 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch orphanet.ordo:363528 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch UMLS:C1824106 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching -OMIM:615288 DRC1 skos:exactMatch hgnc:DRC1 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:24245 semapv:UnspecifiedMatching +OMIM:615288 DRC1 skos:exactMatch hgnc.symbol:DRC1 semapv:UnspecifiedMatching OMIM:615288 DRC1 skos:exactMatch ncbigene:92749 semapv:UnspecifiedMatching -OMIM:615289 MISP skos:exactMatch hgnc:MISP semapv:UnspecifiedMatching +OMIM:615289 MISP skos:exactMatch hgnc.symbol:27000 semapv:UnspecifiedMatching +OMIM:615289 MISP skos:exactMatch hgnc.symbol:MISP semapv:UnspecifiedMatching OMIM:615289 MISP skos:exactMatch ncbigene:126353 semapv:UnspecifiedMatching +OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363447 semapv:UnspecifiedMatching +OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch Orphanet:363454 semapv:UnspecifiedMatching OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch UMLS:C4747715 semapv:UnspecifiedMatching -OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch orphanet.ordo:363447 semapv:UnspecifiedMatching -OMIM:615290 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant skos:exactMatch orphanet.ordo:363454 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1425214 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C1836121 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017377 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch UMLS:C4017378 semapv:UnspecifiedMatching -OMIM:615291 B3GALT6 skos:exactMatch hgnc:B3GALT6 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:17978 semapv:UnspecifiedMatching +OMIM:615291 B3GALT6 skos:exactMatch hgnc.symbol:B3GALT6 semapv:UnspecifiedMatching OMIM:615291 B3GALT6 skos:exactMatch ncbigene:126792 semapv:UnspecifiedMatching -OMIM:615292 FAM111A skos:exactMatch hgnc:FAM111A semapv:UnspecifiedMatching +OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:24725 semapv:UnspecifiedMatching +OMIM:615292 FAM111A skos:exactMatch hgnc.symbol:FAM111A semapv:UnspecifiedMatching OMIM:615292 FAM111A skos:exactMatch ncbigene:63901 semapv:UnspecifiedMatching +OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch UMLS:C3809087 semapv:UnspecifiedMatching -OMIM:615294 ciliary dyskinesia, primary, 21 skos:exactMatch orphanet.ordo:244 semapv:UnspecifiedMatching -OMIM:615295 USP34 skos:exactMatch hgnc:USP34 semapv:UnspecifiedMatching +OMIM:615295 USP34 skos:exactMatch hgnc.symbol:20066 semapv:UnspecifiedMatching +OMIM:615295 USP34 skos:exactMatch hgnc.symbol:USP34 semapv:UnspecifiedMatching OMIM:615295 USP34 skos:exactMatch ncbigene:9736 semapv:UnspecifiedMatching -OMIM:615296 IL1F10 skos:exactMatch hgnc:IL1F10 semapv:UnspecifiedMatching +OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:15552 semapv:UnspecifiedMatching +OMIM:615296 IL1F10 skos:exactMatch hgnc.symbol:IL1F10 semapv:UnspecifiedMatching OMIM:615296 IL1F10 skos:exactMatch ncbigene:84639 semapv:UnspecifiedMatching +OMIM:615297 adams-oliver syndrome 4 skos:exactMatch Orphanet:974 semapv:UnspecifiedMatching OMIM:615297 adams-oliver syndrome 4 skos:exactMatch UMLS:C3809092 semapv:UnspecifiedMatching -OMIM:615297 adams-oliver syndrome 4 skos:exactMatch orphanet.ordo:974 semapv:UnspecifiedMatching +OMIM:615298 symphalangism, proximal, 1b skos:exactMatch Orphanet:3250 semapv:UnspecifiedMatching OMIM:615298 symphalangism, proximal, 1b skos:exactMatch UMLS:C3809104 semapv:UnspecifiedMatching -OMIM:615298 symphalangism, proximal, 1b skos:exactMatch orphanet.ordo:3250 semapv:UnspecifiedMatching -OMIM:615299 NXNL2 skos:exactMatch hgnc:NXNL2 semapv:UnspecifiedMatching +OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:30482 semapv:UnspecifiedMatching +OMIM:615299 NXNL2 skos:exactMatch hgnc.symbol:NXNL2 semapv:UnspecifiedMatching OMIM:615299 NXNL2 skos:exactMatch ncbigene:158046 semapv:UnspecifiedMatching -OMIM:615301 TMEM214 skos:exactMatch hgnc:TMEM214 semapv:UnspecifiedMatching +OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:25983 semapv:UnspecifiedMatching +OMIM:615301 TMEM214 skos:exactMatch hgnc.symbol:TMEM214 semapv:UnspecifiedMatching OMIM:615301 TMEM214 skos:exactMatch ncbigene:54867 semapv:UnspecifiedMatching -OMIM:615302 ADAT3 skos:exactMatch hgnc:ADAT3 semapv:UnspecifiedMatching +OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:25151 semapv:UnspecifiedMatching +OMIM:615302 ADAT3 skos:exactMatch hgnc.symbol:ADAT3 semapv:UnspecifiedMatching OMIM:615302 ADAT3 skos:exactMatch ncbigene:113179 semapv:UnspecifiedMatching OMIM:615303 TRG-TCC1-1 skos:exactMatch UMLS:C1421119 semapv:UnspecifiedMatching -OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc:TRG-TCC1-1 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:12274 semapv:UnspecifiedMatching +OMIM:615303 TRG-TCC1-1 skos:exactMatch hgnc.symbol:TRG-TCC1-1 semapv:UnspecifiedMatching OMIM:615303 TRG-TCC1-1 skos:exactMatch ncbigene:7197 semapv:UnspecifiedMatching -OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc:TRV-CAC3-1 semapv:UnspecifiedMatching +OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:34985 semapv:UnspecifiedMatching +OMIM:615304 TRV-CAC3-1 skos:exactMatch hgnc.symbol:TRV-CAC3-1 semapv:UnspecifiedMatching OMIM:615304 TRV-CAC3-1 skos:exactMatch ncbigene:100189416 semapv:UnspecifiedMatching -OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc:TRR-ACG1-2 semapv:UnspecifiedMatching +OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:12344 semapv:UnspecifiedMatching +OMIM:615305 TRR-ACG1-2 skos:exactMatch hgnc.symbol:TRR-ACG1-2 semapv:UnspecifiedMatching OMIM:615305 TRR-ACG1-2 skos:exactMatch ncbigene:7231 semapv:UnspecifiedMatching -OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc:TRV-CAC1-6 semapv:UnspecifiedMatching +OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:34790 semapv:UnspecifiedMatching +OMIM:615306 TRV-CAC1-6 skos:exactMatch hgnc.symbol:TRV-CAC1-6 semapv:UnspecifiedMatching OMIM:615306 TRV-CAC1-6 skos:exactMatch ncbigene:100189227 semapv:UnspecifiedMatching -OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc:TRV-AAC5-1 semapv:UnspecifiedMatching +OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:34573 semapv:UnspecifiedMatching +OMIM:615307 TRV-AAC5-1 skos:exactMatch hgnc.symbol:TRV-AAC5-1 semapv:UnspecifiedMatching OMIM:615307 TRV-AAC5-1 skos:exactMatch ncbigene:100189014 semapv:UnspecifiedMatching -OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc:TRV-AAC4-1 semapv:UnspecifiedMatching +OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:34723 semapv:UnspecifiedMatching +OMIM:615308 TRV-AAC4-1 skos:exactMatch hgnc.symbol:TRV-AAC4-1 semapv:UnspecifiedMatching OMIM:615308 TRV-AAC4-1 skos:exactMatch ncbigene:100189161 semapv:UnspecifiedMatching -OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc:TRT-AGT2-2 semapv:UnspecifiedMatching +OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:34908 semapv:UnspecifiedMatching +OMIM:615309 TRT-AGT2-2 skos:exactMatch hgnc.symbol:TRT-AGT2-2 semapv:UnspecifiedMatching OMIM:615309 TRT-AGT2-2 skos:exactMatch ncbigene:100189340 semapv:UnspecifiedMatching -OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc:TRV-AAC1-1 semapv:UnspecifiedMatching +OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:34885 semapv:UnspecifiedMatching +OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:TRV-AAC1-1 semapv:UnspecifiedMatching OMIM:615310 TRV-AAC1-1 skos:exactMatch ncbigene:100189318 semapv:UnspecifiedMatching -OMIM:615313 B3GNT7 skos:exactMatch hgnc:B3GNT7 semapv:UnspecifiedMatching +OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:18811 semapv:UnspecifiedMatching +OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:B3GNT7 semapv:UnspecifiedMatching OMIM:615313 B3GNT7 skos:exactMatch ncbigene:93010 semapv:UnspecifiedMatching +OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35098 semapv:UnspecifiedMatching +OMIM:615314 craniosynostosis 3 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching OMIM:615314 craniosynostosis 3 skos:exactMatch UMLS:C3715051 semapv:UnspecifiedMatching -OMIM:615314 craniosynostosis 3 skos:exactMatch orphanet.ordo:35098 semapv:UnspecifiedMatching -OMIM:615314 craniosynostosis 3 skos:exactMatch orphanet.ordo:35099 semapv:UnspecifiedMatching -OMIM:615315 B3GNT6 skos:exactMatch hgnc:B3GNT6 semapv:UnspecifiedMatching +OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:24141 semapv:UnspecifiedMatching +OMIM:615315 B3GNT6 skos:exactMatch hgnc.symbol:B3GNT6 semapv:UnspecifiedMatching OMIM:615315 B3GNT6 skos:exactMatch ncbigene:192134 semapv:UnspecifiedMatching -OMIM:615316 IBA57 skos:exactMatch hgnc:IBA57 semapv:UnspecifiedMatching +OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:27302 semapv:UnspecifiedMatching +OMIM:615316 IBA57 skos:exactMatch hgnc.symbol:IBA57 semapv:UnspecifiedMatching OMIM:615316 IBA57 skos:exactMatch ncbigene:200205 semapv:UnspecifiedMatching -OMIM:615317 ISCA2 skos:exactMatch hgnc:ISCA2 semapv:UnspecifiedMatching +OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:19857 semapv:UnspecifiedMatching +OMIM:615317 ISCA2 skos:exactMatch hgnc.symbol:ISCA2 semapv:UnspecifiedMatching OMIM:615317 ISCA2 skos:exactMatch ncbigene:122961 semapv:UnspecifiedMatching -OMIM:615318 TMEM14C skos:exactMatch hgnc:TMEM14C semapv:UnspecifiedMatching +OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:20952 semapv:UnspecifiedMatching +OMIM:615318 TMEM14C skos:exactMatch hgnc.symbol:TMEM14C semapv:UnspecifiedMatching OMIM:615318 TMEM14C skos:exactMatch ncbigene:51522 semapv:UnspecifiedMatching -OMIM:615319 IMPACT skos:exactMatch hgnc:IMPACT semapv:UnspecifiedMatching +OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:20387 semapv:UnspecifiedMatching +OMIM:615319 IMPACT skos:exactMatch hgnc.symbol:IMPACT semapv:UnspecifiedMatching OMIM:615319 IMPACT skos:exactMatch ncbigene:55364 semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch UMLS:C1539586 semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching -OMIM:615320 GMPPB skos:exactMatch hgnc:GMPPB semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:22932 semapv:UnspecifiedMatching +OMIM:615320 GMPPB skos:exactMatch hgnc.symbol:GMPPB semapv:UnspecifiedMatching OMIM:615320 GMPPB skos:exactMatch ncbigene:29925 semapv:UnspecifiedMatching -OMIM:615321 CLIC6 skos:exactMatch hgnc:CLIC6 semapv:UnspecifiedMatching +OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:2065 semapv:UnspecifiedMatching +OMIM:615321 CLIC6 skos:exactMatch hgnc.symbol:CLIC6 semapv:UnspecifiedMatching OMIM:615321 CLIC6 skos:exactMatch ncbigene:54102 semapv:UnspecifiedMatching OMIM:615322 NRROS skos:exactMatch UMLS:C1537608 semapv:UnspecifiedMatching OMIM:615322 NRROS skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching -OMIM:615322 NRROS skos:exactMatch hgnc:NRROS semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch hgnc.symbol:24613 semapv:UnspecifiedMatching +OMIM:615322 NRROS skos:exactMatch hgnc.symbol:NRROS semapv:UnspecifiedMatching OMIM:615322 NRROS skos:exactMatch ncbigene:375387 semapv:UnspecifiedMatching -OMIM:615323 JOSD1 skos:exactMatch hgnc:JOSD1 semapv:UnspecifiedMatching +OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:28953 semapv:UnspecifiedMatching +OMIM:615323 JOSD1 skos:exactMatch hgnc.symbol:JOSD1 semapv:UnspecifiedMatching OMIM:615323 JOSD1 skos:exactMatch ncbigene:9929 semapv:UnspecifiedMatching -OMIM:615324 JOSD2 skos:exactMatch hgnc:JOSD2 semapv:UnspecifiedMatching +OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:28853 semapv:UnspecifiedMatching +OMIM:615324 JOSD2 skos:exactMatch hgnc.symbol:JOSD2 semapv:UnspecifiedMatching OMIM:615324 JOSD2 skos:exactMatch ncbigene:126119 semapv:UnspecifiedMatching -OMIM:615326 IFNK skos:exactMatch hgnc:IFNK semapv:UnspecifiedMatching +OMIM:615326 IFNK skos:exactMatch hgnc.symbol:21714 semapv:UnspecifiedMatching +OMIM:615326 IFNK skos:exactMatch hgnc.symbol:IFNK semapv:UnspecifiedMatching OMIM:615326 IFNK skos:exactMatch ncbigene:56832 semapv:UnspecifiedMatching -OMIM:615329 EXOC2 skos:exactMatch hgnc:EXOC2 semapv:UnspecifiedMatching +OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:24968 semapv:UnspecifiedMatching +OMIM:615329 EXOC2 skos:exactMatch hgnc.symbol:EXOC2 semapv:UnspecifiedMatching OMIM:615329 EXOC2 skos:exactMatch ncbigene:55770 semapv:UnspecifiedMatching -OMIM:615331 IRF2BP1 skos:exactMatch hgnc:IRF2BP1 semapv:UnspecifiedMatching +OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:21728 semapv:UnspecifiedMatching +OMIM:615331 IRF2BP1 skos:exactMatch hgnc.symbol:IRF2BP1 semapv:UnspecifiedMatching OMIM:615331 IRF2BP1 skos:exactMatch ncbigene:26145 semapv:UnspecifiedMatching -OMIM:615332 IRF2BP2 skos:exactMatch hgnc:IRF2BP2 semapv:UnspecifiedMatching +OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:21729 semapv:UnspecifiedMatching +OMIM:615332 IRF2BP2 skos:exactMatch hgnc.symbol:IRF2BP2 semapv:UnspecifiedMatching OMIM:615332 IRF2BP2 skos:exactMatch ncbigene:359948 semapv:UnspecifiedMatching -OMIM:615333 B3GNT5 skos:exactMatch hgnc:B3GNT5 semapv:UnspecifiedMatching +OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:15684 semapv:UnspecifiedMatching +OMIM:615333 B3GNT5 skos:exactMatch hgnc.symbol:B3GNT5 semapv:UnspecifiedMatching OMIM:615333 B3GNT5 skos:exactMatch ncbigene:84002 semapv:UnspecifiedMatching -OMIM:615334 CERS4 skos:exactMatch hgnc:CERS4 semapv:UnspecifiedMatching +OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:23747 semapv:UnspecifiedMatching +OMIM:615334 CERS4 skos:exactMatch hgnc.symbol:CERS4 semapv:UnspecifiedMatching OMIM:615334 CERS4 skos:exactMatch ncbigene:79603 semapv:UnspecifiedMatching -OMIM:615335 CERS5 skos:exactMatch hgnc:CERS5 semapv:UnspecifiedMatching +OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:23749 semapv:UnspecifiedMatching +OMIM:615335 CERS5 skos:exactMatch hgnc.symbol:CERS5 semapv:UnspecifiedMatching OMIM:615335 CERS5 skos:exactMatch ncbigene:91012 semapv:UnspecifiedMatching -OMIM:615336 CERS6 skos:exactMatch hgnc:CERS6 semapv:UnspecifiedMatching +OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:23826 semapv:UnspecifiedMatching +OMIM:615336 CERS6 skos:exactMatch hgnc.symbol:CERS6 semapv:UnspecifiedMatching OMIM:615336 CERS6 skos:exactMatch ncbigene:253782 semapv:UnspecifiedMatching -OMIM:615337 B3GNTL1 skos:exactMatch hgnc:B3GNTL1 semapv:UnspecifiedMatching +OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:21727 semapv:UnspecifiedMatching +OMIM:615337 B3GNTL1 skos:exactMatch hgnc.symbol:B3GNTL1 semapv:UnspecifiedMatching OMIM:615337 B3GNTL1 skos:exactMatch ncbigene:146712 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching +OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch Orphanet:352596 semapv:UnspecifiedMatching OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch UMLS:C3809173 semapv:UnspecifiedMatching -OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch orphanet.ordo:293181 semapv:UnspecifiedMatching -OMIM:615338 developmental and epileptic encephalopathy 16 skos:exactMatch orphanet.ordo:352596 semapv:UnspecifiedMatching -OMIM:615339 DNAJC15 skos:exactMatch hgnc:DNAJC15 semapv:UnspecifiedMatching +OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:20325 semapv:UnspecifiedMatching +OMIM:615339 DNAJC15 skos:exactMatch hgnc.symbol:DNAJC15 semapv:UnspecifiedMatching OMIM:615339 DNAJC15 skos:exactMatch ncbigene:29103 semapv:UnspecifiedMatching -OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc:KLHL40 semapv:UnspecifiedMatching +OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:30372 semapv:UnspecifiedMatching +OMIM:615340 kelch-like 40: klhl40 skos:exactMatch hgnc.symbol:KLHL40 semapv:UnspecifiedMatching OMIM:615340 kelch-like 40: klhl40 skos:exactMatch ncbigene:131377 semapv:UnspecifiedMatching -OMIM:615341 CYP4A22 skos:exactMatch hgnc:CYP4A22 semapv:UnspecifiedMatching +OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:20575 semapv:UnspecifiedMatching +OMIM:615341 CYP4A22 skos:exactMatch hgnc.symbol:CYP4A22 semapv:UnspecifiedMatching OMIM:615341 CYP4A22 skos:exactMatch ncbigene:284541 semapv:UnspecifiedMatching -OMIM:615345 MYMK skos:exactMatch hgnc:MYMK semapv:UnspecifiedMatching +OMIM:615345 MYMK skos:exactMatch hgnc.symbol:33778 semapv:UnspecifiedMatching +OMIM:615345 MYMK skos:exactMatch hgnc.symbol:MYMK semapv:UnspecifiedMatching OMIM:615345 MYMK skos:exactMatch ncbigene:389827 semapv:UnspecifiedMatching -OMIM:615347 ATAD2B skos:exactMatch hgnc:ATAD2B semapv:UnspecifiedMatching +OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:29230 semapv:UnspecifiedMatching +OMIM:615347 ATAD2B skos:exactMatch hgnc.symbol:ATAD2B semapv:UnspecifiedMatching OMIM:615347 ATAD2B skos:exactMatch ncbigene:54454 semapv:UnspecifiedMatching +OMIM:615348 nemaline myopathy 8 skos:exactMatch Orphanet:171430 semapv:UnspecifiedMatching OMIM:615348 nemaline myopathy 8 skos:exactMatch UMLS:C3809209 semapv:UnspecifiedMatching -OMIM:615348 nemaline myopathy 8 skos:exactMatch orphanet.ordo:171430 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 semapv:UnspecifiedMatching +OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:75496 semapv:UnspecifiedMatching OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch UMLS:C3809210 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch orphanet.ordo:536467 semapv:UnspecifiedMatching -OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 skos:exactMatch orphanet.ordo:75496 semapv:UnspecifiedMatching +OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch Orphanet:588 semapv:UnspecifiedMatching OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch UMLS:C3809216 semapv:UnspecifiedMatching -OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 skos:exactMatch orphanet.ordo:588 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370959 semapv:UnspecifiedMatching +OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch Orphanet:370968 semapv:UnspecifiedMatching OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch UMLS:C3809221 semapv:UnspecifiedMatching -OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch orphanet.ordo:370959 semapv:UnspecifiedMatching -OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 skos:exactMatch orphanet.ordo:370968 semapv:UnspecifiedMatching +OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch Orphanet:363623 semapv:UnspecifiedMatching OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch UMLS:C3714932 semapv:UnspecifiedMatching -OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 skos:exactMatch orphanet.ordo:363623 semapv:UnspecifiedMatching -OMIM:615353 CCDC28A skos:exactMatch hgnc:CCDC28A semapv:UnspecifiedMatching +OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:21098 semapv:UnspecifiedMatching +OMIM:615353 CCDC28A skos:exactMatch hgnc.symbol:CCDC28A semapv:UnspecifiedMatching OMIM:615353 CCDC28A skos:exactMatch ncbigene:25901 semapv:UnspecifiedMatching -OMIM:615354 LRIF1 skos:exactMatch hgnc:LRIF1 semapv:UnspecifiedMatching +OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:30299 semapv:UnspecifiedMatching +OMIM:615354 LRIF1 skos:exactMatch hgnc.symbol:LRIF1 semapv:UnspecifiedMatching OMIM:615354 LRIF1 skos:exactMatch ncbigene:55791 semapv:UnspecifiedMatching -OMIM:615357 B3GNT8 skos:exactMatch hgnc:B3GNT8 semapv:UnspecifiedMatching +OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:24139 semapv:UnspecifiedMatching +OMIM:615357 B3GNT8 skos:exactMatch hgnc.symbol:B3GNT8 semapv:UnspecifiedMatching OMIM:615357 B3GNT8 skos:exactMatch ncbigene:374907 semapv:UnspecifiedMatching -OMIM:615358 AK9 skos:exactMatch hgnc:AK9 semapv:UnspecifiedMatching +OMIM:615358 AK9 skos:exactMatch hgnc.symbol:33814 semapv:UnspecifiedMatching +OMIM:615358 AK9 skos:exactMatch hgnc.symbol:AK9 semapv:UnspecifiedMatching OMIM:615358 AK9 skos:exactMatch ncbigene:221264 semapv:UnspecifiedMatching OMIM:615359 MIOS skos:exactMatch UMLS:C2681663 semapv:UnspecifiedMatching -OMIM:615359 MIOS skos:exactMatch hgnc:MIOS semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch hgnc.symbol:21905 semapv:UnspecifiedMatching +OMIM:615359 MIOS skos:exactMatch hgnc.symbol:MIOS semapv:UnspecifiedMatching OMIM:615359 MIOS skos:exactMatch ncbigene:54468 semapv:UnspecifiedMatching -OMIM:615364 AK7 skos:exactMatch hgnc:AK7 semapv:UnspecifiedMatching +OMIM:615364 AK7 skos:exactMatch hgnc.symbol:20091 semapv:UnspecifiedMatching +OMIM:615364 AK7 skos:exactMatch hgnc.symbol:AK7 semapv:UnspecifiedMatching OMIM:615364 AK7 skos:exactMatch ncbigene:122481 semapv:UnspecifiedMatching -OMIM:615365 AK8 skos:exactMatch hgnc:AK8 semapv:UnspecifiedMatching +OMIM:615365 AK8 skos:exactMatch hgnc.symbol:26526 semapv:UnspecifiedMatching +OMIM:615365 AK8 skos:exactMatch hgnc.symbol:AK8 semapv:UnspecifiedMatching OMIM:615365 AK8 skos:exactMatch ncbigene:158067 semapv:UnspecifiedMatching -OMIM:615366 NOL11 skos:exactMatch hgnc:NOL11 semapv:UnspecifiedMatching +OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:24557 semapv:UnspecifiedMatching +OMIM:615366 NOL11 skos:exactMatch hgnc.symbol:NOL11 semapv:UnspecifiedMatching OMIM:615366 NOL11 skos:exactMatch ncbigene:25926 semapv:UnspecifiedMatching -OMIM:615367 NTAN1 skos:exactMatch hgnc:NTAN1 semapv:UnspecifiedMatching +OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:29909 semapv:UnspecifiedMatching +OMIM:615367 NTAN1 skos:exactMatch hgnc.symbol:NTAN1 semapv:UnspecifiedMatching OMIM:615367 NTAN1 skos:exactMatch ncbigene:123803 semapv:UnspecifiedMatching +OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch Orphanet:363409 semapv:UnspecifiedMatching OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch UMLS:C3809272 semapv:UnspecifiedMatching -OMIM:615368 lethal congenital contracture syndrome 5 skos:exactMatch orphanet.ordo:363409 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching +OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch UMLS:C3809278 semapv:UnspecifiedMatching -OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch orphanet.ordo:1942 semapv:UnspecifiedMatching -OMIM:615369 developmental and epileptic encephalopathy 94 skos:exactMatch orphanet.ordo:2382 semapv:UnspecifiedMatching -OMIM:615370 ANKS6 skos:exactMatch hgnc:ANKS6 semapv:UnspecifiedMatching +OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:26724 semapv:UnspecifiedMatching +OMIM:615370 ANKS6 skos:exactMatch hgnc.symbol:ANKS6 semapv:UnspecifiedMatching OMIM:615370 ANKS6 skos:exactMatch ncbigene:203286 semapv:UnspecifiedMatching -OMIM:615372 MIR1260B skos:exactMatch hgnc:MIR1260B semapv:UnspecifiedMatching +OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:38258 semapv:UnspecifiedMatching +OMIM:615372 MIR1260B skos:exactMatch hgnc.symbol:MIR1260B semapv:UnspecifiedMatching OMIM:615372 MIR1260B skos:exactMatch ncbigene:100422991 semapv:UnspecifiedMatching -OMIM:615375 IRAK1BP1 skos:exactMatch hgnc:IRAK1BP1 semapv:UnspecifiedMatching +OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:17368 semapv:UnspecifiedMatching +OMIM:615375 IRAK1BP1 skos:exactMatch hgnc.symbol:IRAK1BP1 semapv:UnspecifiedMatching OMIM:615375 IRAK1BP1 skos:exactMatch ncbigene:134728 semapv:UnspecifiedMatching -OMIM:615379 MIR650 skos:exactMatch hgnc:MIR650 semapv:UnspecifiedMatching +OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:32906 semapv:UnspecifiedMatching +OMIM:615379 MIR650 skos:exactMatch hgnc.symbol:MIR650 semapv:UnspecifiedMatching OMIM:615379 MIR650 skos:exactMatch ncbigene:723778 semapv:UnspecifiedMatching -OMIM:615380 AREL1 skos:exactMatch hgnc:AREL1 semapv:UnspecifiedMatching +OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:20363 semapv:UnspecifiedMatching +OMIM:615380 AREL1 skos:exactMatch hgnc.symbol:AREL1 semapv:UnspecifiedMatching OMIM:615380 AREL1 skos:exactMatch ncbigene:9870 semapv:UnspecifiedMatching -OMIM:615383 FIGNL1 skos:exactMatch hgnc:FIGNL1 semapv:UnspecifiedMatching +OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:13286 semapv:UnspecifiedMatching +OMIM:615383 FIGNL1 skos:exactMatch hgnc.symbol:FIGNL1 semapv:UnspecifiedMatching OMIM:615383 FIGNL1 skos:exactMatch ncbigene:63979 semapv:UnspecifiedMatching -OMIM:615384 SPIDR skos:exactMatch hgnc:SPIDR semapv:UnspecifiedMatching +OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:28971 semapv:UnspecifiedMatching +OMIM:615384 SPIDR skos:exactMatch hgnc.symbol:SPIDR semapv:UnspecifiedMatching OMIM:615384 SPIDR skos:exactMatch ncbigene:23514 semapv:UnspecifiedMatching -OMIM:615385 MIR485 skos:exactMatch hgnc:MIR485 semapv:UnspecifiedMatching +OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:32067 semapv:UnspecifiedMatching +OMIM:615385 MIR485 skos:exactMatch hgnc.symbol:MIR485 semapv:UnspecifiedMatching OMIM:615385 MIR485 skos:exactMatch ncbigene:574436 semapv:UnspecifiedMatching -OMIM:615388 ADAT2 skos:exactMatch hgnc:ADAT2 semapv:UnspecifiedMatching +OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:21172 semapv:UnspecifiedMatching +OMIM:615388 ADAT2 skos:exactMatch hgnc.symbol:ADAT2 semapv:UnspecifiedMatching OMIM:615388 ADAT2 skos:exactMatch ncbigene:134637 semapv:UnspecifiedMatching -OMIM:615389 IDI2 skos:exactMatch hgnc:IDI2 semapv:UnspecifiedMatching +OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:23487 semapv:UnspecifiedMatching +OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:IDI2 semapv:UnspecifiedMatching OMIM:615389 IDI2 skos:exactMatch ncbigene:91734 semapv:UnspecifiedMatching -OMIM:615391 IDI2AS1 skos:exactMatch hgnc:IDI2-AS1 semapv:UnspecifiedMatching +OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:30885 semapv:UnspecifiedMatching +OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:IDI2-AS1 semapv:UnspecifiedMatching OMIM:615391 IDI2AS1 skos:exactMatch ncbigene:55853 semapv:UnspecifiedMatching -OMIM:615392 SFMBT2 skos:exactMatch hgnc:SFMBT2 semapv:UnspecifiedMatching +OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:20256 semapv:UnspecifiedMatching +OMIM:615392 SFMBT2 skos:exactMatch hgnc.symbol:SFMBT2 semapv:UnspecifiedMatching OMIM:615392 SFMBT2 skos:exactMatch ncbigene:57713 semapv:UnspecifiedMatching -OMIM:615393 MTERF4 skos:exactMatch hgnc:MTERF4 semapv:UnspecifiedMatching +OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:28785 semapv:UnspecifiedMatching +OMIM:615393 MTERF4 skos:exactMatch hgnc.symbol:MTERF4 semapv:UnspecifiedMatching OMIM:615393 MTERF4 skos:exactMatch ncbigene:130916 semapv:UnspecifiedMatching -OMIM:615394 NSUN4 skos:exactMatch hgnc:NSUN4 semapv:UnspecifiedMatching +OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:31802 semapv:UnspecifiedMatching +OMIM:615394 NSUN4 skos:exactMatch hgnc.symbol:NSUN4 semapv:UnspecifiedMatching OMIM:615394 NSUN4 skos:exactMatch ncbigene:387338 semapv:UnspecifiedMatching OMIM:615403 THOC6 skos:exactMatch UMLS:C1823273 semapv:UnspecifiedMatching OMIM:615403 THOC6 skos:exactMatch UMLS:C3150939 semapv:UnspecifiedMatching -OMIM:615403 THOC6 skos:exactMatch hgnc:THOC6 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:28369 semapv:UnspecifiedMatching +OMIM:615403 THOC6 skos:exactMatch hgnc.symbol:THOC6 semapv:UnspecifiedMatching OMIM:615403 THOC6 skos:exactMatch ncbigene:79228 semapv:UnspecifiedMatching -OMIM:615404 TM4SF20 skos:exactMatch hgnc:TM4SF20 semapv:UnspecifiedMatching +OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:26230 semapv:UnspecifiedMatching +OMIM:615404 TM4SF20 skos:exactMatch hgnc.symbol:TM4SF20 semapv:UnspecifiedMatching OMIM:615404 TM4SF20 skos:exactMatch ncbigene:79853 semapv:UnspecifiedMatching -OMIM:615405 GNG12 skos:exactMatch hgnc:GNG12 semapv:UnspecifiedMatching +OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:19663 semapv:UnspecifiedMatching +OMIM:615405 GNG12 skos:exactMatch hgnc.symbol:GNG12 semapv:UnspecifiedMatching OMIM:615405 GNG12 skos:exactMatch ncbigene:55970 semapv:UnspecifiedMatching -OMIM:615406 GNG12AS1 skos:exactMatch hgnc:GNG12-AS1 semapv:UnspecifiedMatching +OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:43938 semapv:UnspecifiedMatching +OMIM:615406 GNG12AS1 skos:exactMatch hgnc.symbol:GNG12-AS1 semapv:UnspecifiedMatching OMIM:615406 GNG12AS1 skos:exactMatch ncbigene:100289178 semapv:UnspecifiedMatching OMIM:615407 ARL2BP skos:exactMatch UMLS:C1424778 semapv:UnspecifiedMatching OMIM:615407 ARL2BP skos:exactMatch UMLS:C4747737 semapv:UnspecifiedMatching OMIM:615407 ARL2BP skos:exactMatch UMLS:C4749131 semapv:UnspecifiedMatching -OMIM:615407 ARL2BP skos:exactMatch hgnc:ARL2BP semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:17146 semapv:UnspecifiedMatching +OMIM:615407 ARL2BP skos:exactMatch hgnc.symbol:ARL2BP semapv:UnspecifiedMatching OMIM:615407 ARL2BP skos:exactMatch ncbigene:23568 semapv:UnspecifiedMatching -OMIM:615408 ODAD2 skos:exactMatch hgnc:ODAD2 semapv:UnspecifiedMatching +OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:25583 semapv:UnspecifiedMatching +OMIM:615408 ODAD2 skos:exactMatch hgnc.symbol:ODAD2 semapv:UnspecifiedMatching OMIM:615408 ODAD2 skos:exactMatch ncbigene:55130 semapv:UnspecifiedMatching -OMIM:615409 SPATA33 skos:exactMatch hgnc:SPATA33 semapv:UnspecifiedMatching +OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:26463 semapv:UnspecifiedMatching +OMIM:615409 SPATA33 skos:exactMatch hgnc.symbol:SPATA33 semapv:UnspecifiedMatching OMIM:615409 SPATA33 skos:exactMatch ncbigene:124045 semapv:UnspecifiedMatching -OMIM:615410 MRAP2 skos:exactMatch hgnc:MRAP2 semapv:UnspecifiedMatching +OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:21232 semapv:UnspecifiedMatching +OMIM:615410 MRAP2 skos:exactMatch hgnc.symbol:MRAP2 semapv:UnspecifiedMatching OMIM:615410 MRAP2 skos:exactMatch ncbigene:112609 semapv:UnspecifiedMatching +OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch UMLS:C3809431 semapv:UnspecifiedMatching -OMIM:615414 microcephaly 11, primary, autosomal recessive skos:exactMatch orphanet.ordo:2512 semapv:UnspecifiedMatching -OMIM:615416 BHLHA9 skos:exactMatch hgnc:BHLHA9 semapv:UnspecifiedMatching +OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:35126 semapv:UnspecifiedMatching +OMIM:615416 BHLHA9 skos:exactMatch hgnc.symbol:BHLHA9 semapv:UnspecifiedMatching OMIM:615416 BHLHA9 skos:exactMatch ncbigene:727857 semapv:UnspecifiedMatching -OMIM:615417 BET1L skos:exactMatch hgnc:BET1L semapv:UnspecifiedMatching +OMIM:615417 BET1L skos:exactMatch hgnc.symbol:19348 semapv:UnspecifiedMatching +OMIM:615417 BET1L skos:exactMatch hgnc.symbol:BET1L semapv:UnspecifiedMatching OMIM:615417 BET1L skos:exactMatch ncbigene:51272 semapv:UnspecifiedMatching -OMIM:615421 CCDC111 skos:exactMatch hgnc:PRIMPOL semapv:UnspecifiedMatching +OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:26575 semapv:UnspecifiedMatching +OMIM:615421 CCDC111 skos:exactMatch hgnc.symbol:PRIMPOL semapv:UnspecifiedMatching OMIM:615421 CCDC111 skos:exactMatch ncbigene:201973 semapv:UnspecifiedMatching -OMIM:615423 TRMT10C skos:exactMatch hgnc:TRMT10C semapv:UnspecifiedMatching +OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:26022 semapv:UnspecifiedMatching +OMIM:615423 TRMT10C skos:exactMatch hgnc.symbol:TRMT10C semapv:UnspecifiedMatching OMIM:615423 TRMT10C skos:exactMatch ncbigene:54931 semapv:UnspecifiedMatching -OMIM:615427 ELMOD3 skos:exactMatch hgnc:ELMOD3 semapv:UnspecifiedMatching +OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:26158 semapv:UnspecifiedMatching +OMIM:615427 ELMOD3 skos:exactMatch hgnc.symbol:ELMOD3 semapv:UnspecifiedMatching OMIM:615427 ELMOD3 skos:exactMatch ncbigene:84173 semapv:UnspecifiedMatching OMIM:615428 DDX47 skos:exactMatch UMLS:C1425702 semapv:UnspecifiedMatching -OMIM:615428 DDX47 skos:exactMatch hgnc:DDX47 semapv:UnspecifiedMatching +OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:18682 semapv:UnspecifiedMatching +OMIM:615428 DDX47 skos:exactMatch hgnc.symbol:DDX47 semapv:UnspecifiedMatching OMIM:615428 DDX47 skos:exactMatch ncbigene:51202 semapv:UnspecifiedMatching -OMIM:615430 TMEM241 skos:exactMatch hgnc:TMEM241 semapv:UnspecifiedMatching +OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:31723 semapv:UnspecifiedMatching +OMIM:615430 TMEM241 skos:exactMatch hgnc.symbol:TMEM241 semapv:UnspecifiedMatching OMIM:615430 TMEM241 skos:exactMatch ncbigene:85019 semapv:UnspecifiedMatching OMIM:615432 specific language impairment 5 skos:exactMatch UMLS:C3809483 semapv:UnspecifiedMatching -OMIM:615435 ERO1L skos:exactMatch hgnc:ERO1A semapv:UnspecifiedMatching +OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:13280 semapv:UnspecifiedMatching +OMIM:615435 ERO1L skos:exactMatch hgnc.symbol:ERO1A semapv:UnspecifiedMatching OMIM:615435 ERO1L skos:exactMatch ncbigene:30001 semapv:UnspecifiedMatching -OMIM:615437 ERO1LB skos:exactMatch hgnc:ERO1B semapv:UnspecifiedMatching +OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:14355 semapv:UnspecifiedMatching +OMIM:615437 ERO1LB skos:exactMatch hgnc.symbol:ERO1B semapv:UnspecifiedMatching OMIM:615437 ERO1LB skos:exactMatch ncbigene:56605 semapv:UnspecifiedMatching +OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch Orphanet:369913 semapv:UnspecifiedMatching OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch UMLS:C3809526 semapv:UnspecifiedMatching -OMIM:615440 combined oxidative phosphorylation deficiency 17 skos:exactMatch orphanet.ordo:369913 semapv:UnspecifiedMatching -OMIM:615445 TRBC2 skos:exactMatch hgnc:TRBC2 semapv:UnspecifiedMatching +OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:12157 semapv:UnspecifiedMatching +OMIM:615445 TRBC2 skos:exactMatch hgnc.symbol:TRBC2 semapv:UnspecifiedMatching OMIM:615445 TRBC2 skos:exactMatch ncbigene:28638 semapv:UnspecifiedMatching -OMIM:615447 TRBD1 skos:exactMatch hgnc:TRBD1 semapv:UnspecifiedMatching +OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:12158 semapv:UnspecifiedMatching +OMIM:615447 TRBD1 skos:exactMatch hgnc.symbol:TRBD1 semapv:UnspecifiedMatching OMIM:615447 TRBD1 skos:exactMatch ncbigene:28637 semapv:UnspecifiedMatching -OMIM:615448 TRBD2 skos:exactMatch hgnc:TRBD2 semapv:UnspecifiedMatching +OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:12159 semapv:UnspecifiedMatching +OMIM:615448 TRBD2 skos:exactMatch hgnc.symbol:TRBD2 semapv:UnspecifiedMatching OMIM:615448 TRBD2 skos:exactMatch ncbigene:28636 semapv:UnspecifiedMatching -OMIM:615450 TRGC2 skos:exactMatch hgnc:TRGC2 semapv:UnspecifiedMatching +OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:12276 semapv:UnspecifiedMatching +OMIM:615450 TRGC2 skos:exactMatch hgnc.symbol:TRGC2 semapv:UnspecifiedMatching OMIM:615450 TRGC2 skos:exactMatch ncbigene:6967 semapv:UnspecifiedMatching -OMIM:615452 PRNCR1 skos:exactMatch hgnc:PRNCR1 semapv:UnspecifiedMatching +OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:48942 semapv:UnspecifiedMatching +OMIM:615452 PRNCR1 skos:exactMatch hgnc.symbol:PRNCR1 semapv:UnspecifiedMatching OMIM:615452 PRNCR1 skos:exactMatch ncbigene:101867536 semapv:UnspecifiedMatching -OMIM:615456 ELMOD1 skos:exactMatch hgnc:ELMOD1 semapv:UnspecifiedMatching +OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:25334 semapv:UnspecifiedMatching +OMIM:615456 ELMOD1 skos:exactMatch hgnc.symbol:ELMOD1 semapv:UnspecifiedMatching OMIM:615456 ELMOD1 skos:exactMatch ncbigene:55531 semapv:UnspecifiedMatching -OMIM:615462 WDR60 skos:exactMatch hgnc:DYNC2I1 semapv:UnspecifiedMatching +OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:21862 semapv:UnspecifiedMatching +OMIM:615462 WDR60 skos:exactMatch hgnc.symbol:DYNC2I1 semapv:UnspecifiedMatching OMIM:615462 WDR60 skos:exactMatch ncbigene:55112 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch UMLS:C1825662 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching -OMIM:615463 SZT2 skos:exactMatch hgnc:SZT2 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:29040 semapv:UnspecifiedMatching +OMIM:615463 SZT2 skos:exactMatch hgnc.symbol:SZT2 semapv:UnspecifiedMatching OMIM:615463 SZT2 skos:exactMatch ncbigene:23334 semapv:UnspecifiedMatching OMIM:615464 DDX59 skos:exactMatch UMLS:C1539234 semapv:UnspecifiedMatching OMIM:615464 DDX59 skos:exactMatch UMLS:C1868118 semapv:UnspecifiedMatching -OMIM:615464 DDX59 skos:exactMatch hgnc:DDX59 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:25360 semapv:UnspecifiedMatching +OMIM:615464 DDX59 skos:exactMatch hgnc.symbol:DDX59 semapv:UnspecifiedMatching OMIM:615464 DDX59 skos:exactMatch ncbigene:83479 semapv:UnspecifiedMatching -OMIM:615466 TLNRD1 skos:exactMatch hgnc:TLNRD1 semapv:UnspecifiedMatching +OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:13519 semapv:UnspecifiedMatching +OMIM:615466 TLNRD1 skos:exactMatch hgnc.symbol:TLNRD1 semapv:UnspecifiedMatching OMIM:615466 TLNRD1 skos:exactMatch ncbigene:59274 semapv:UnspecifiedMatching -OMIM:615467 GLTPD1 skos:exactMatch hgnc:CPTP semapv:UnspecifiedMatching +OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:28116 semapv:UnspecifiedMatching +OMIM:615467 GLTPD1 skos:exactMatch hgnc.symbol:CPTP semapv:UnspecifiedMatching OMIM:615467 GLTPD1 skos:exactMatch ncbigene:80772 semapv:UnspecifiedMatching +OMIM:615468 immunodeficiency 12 skos:exactMatch Orphanet:397964 semapv:UnspecifiedMatching OMIM:615468 immunodeficiency 12 skos:exactMatch UMLS:C3809583 semapv:UnspecifiedMatching -OMIM:615468 immunodeficiency 12 skos:exactMatch orphanet.ordo:397964 semapv:UnspecifiedMatching -OMIM:615469 MIR574 skos:exactMatch hgnc:MIR574 semapv:UnspecifiedMatching +OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:32830 semapv:UnspecifiedMatching +OMIM:615469 MIR574 skos:exactMatch hgnc.symbol:MIR574 semapv:UnspecifiedMatching OMIM:615469 MIR574 skos:exactMatch ncbigene:693159 semapv:UnspecifiedMatching -OMIM:615470 CEP89 skos:exactMatch hgnc:CEP89 semapv:UnspecifiedMatching +OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:25907 semapv:UnspecifiedMatching +OMIM:615470 CEP89 skos:exactMatch hgnc.symbol:CEP89 semapv:UnspecifiedMatching OMIM:615470 CEP89 skos:exactMatch ncbigene:84902 semapv:UnspecifiedMatching -OMIM:615472 COPZ1 skos:exactMatch hgnc:COPZ1 semapv:UnspecifiedMatching +OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:2243 semapv:UnspecifiedMatching +OMIM:615472 COPZ1 skos:exactMatch hgnc.symbol:COPZ1 semapv:UnspecifiedMatching OMIM:615472 COPZ1 skos:exactMatch ncbigene:22818 semapv:UnspecifiedMatching +OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch UMLS:C3809606 semapv:UnspecifiedMatching -OMIM:615473 developmental and epileptic encephalopathy 17 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching OMIM:615475 DHX34 skos:exactMatch UMLS:C1424505 semapv:UnspecifiedMatching -OMIM:615475 DHX34 skos:exactMatch hgnc:DHX34 semapv:UnspecifiedMatching +OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:16719 semapv:UnspecifiedMatching +OMIM:615475 DHX34 skos:exactMatch hgnc.symbol:DHX34 semapv:UnspecifiedMatching OMIM:615475 DHX34 skos:exactMatch ncbigene:9704 semapv:UnspecifiedMatching +OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch UMLS:C3809624 semapv:UnspecifiedMatching -OMIM:615476 developmental and epileptic encephalopathy 18 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:615477 NYAP1 skos:exactMatch hgnc:NYAP1 semapv:UnspecifiedMatching +OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:22009 semapv:UnspecifiedMatching +OMIM:615477 NYAP1 skos:exactMatch hgnc.symbol:NYAP1 semapv:UnspecifiedMatching OMIM:615477 NYAP1 skos:exactMatch ncbigene:222950 semapv:UnspecifiedMatching -OMIM:615478 NYAP2 skos:exactMatch hgnc:NYAP2 semapv:UnspecifiedMatching +OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:29291 semapv:UnspecifiedMatching +OMIM:615478 NYAP2 skos:exactMatch hgnc.symbol:NYAP2 semapv:UnspecifiedMatching OMIM:615478 NYAP2 skos:exactMatch ncbigene:57624 semapv:UnspecifiedMatching -OMIM:615479 MYO16 skos:exactMatch hgnc:MYO16 semapv:UnspecifiedMatching +OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:29822 semapv:UnspecifiedMatching +OMIM:615479 MYO16 skos:exactMatch hgnc.symbol:MYO16 semapv:UnspecifiedMatching OMIM:615479 MYO16 skos:exactMatch ncbigene:23026 semapv:UnspecifiedMatching -OMIM:615480 BLACAT1 skos:exactMatch hgnc:BLACAT1 semapv:UnspecifiedMatching +OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:48597 semapv:UnspecifiedMatching +OMIM:615480 BLACAT1 skos:exactMatch hgnc.symbol:BLACAT1 semapv:UnspecifiedMatching OMIM:615480 BLACAT1 skos:exactMatch ncbigene:101669762 semapv:UnspecifiedMatching -OMIM:615484 PTCD2 skos:exactMatch hgnc:PTCD2 semapv:UnspecifiedMatching +OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:25734 semapv:UnspecifiedMatching +OMIM:615484 PTCD2 skos:exactMatch hgnc.symbol:PTCD2 semapv:UnspecifiedMatching OMIM:615484 PTCD2 skos:exactMatch ncbigene:79810 semapv:UnspecifiedMatching -OMIM:615487 SNORA2C skos:exactMatch hgnc:SNORA2C semapv:UnspecifiedMatching +OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:32624 semapv:UnspecifiedMatching +OMIM:615487 SNORA2C skos:exactMatch hgnc.symbol:SNORA2C semapv:UnspecifiedMatching OMIM:615487 SNORA2C skos:exactMatch ncbigene:677815 semapv:UnspecifiedMatching -OMIM:615488 KANSL2 skos:exactMatch hgnc:KANSL2 semapv:UnspecifiedMatching +OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:26024 semapv:UnspecifiedMatching +OMIM:615488 KANSL2 skos:exactMatch hgnc.symbol:KANSL2 semapv:UnspecifiedMatching OMIM:615488 KANSL2 skos:exactMatch ncbigene:54934 semapv:UnspecifiedMatching +OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch Orphanet:356996 semapv:UnspecifiedMatching OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch UMLS:C3809672 semapv:UnspecifiedMatching -OMIM:615493 intellectual developmental disorder, autosomal recessive 37 skos:exactMatch orphanet.ordo:356996 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch UMLS:C1412981 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017383 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch UMLS:C4017384 semapv:UnspecifiedMatching -OMIM:615494 CFAP298 skos:exactMatch hgnc:CFAP298 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:1301 semapv:UnspecifiedMatching +OMIM:615494 CFAP298 skos:exactMatch hgnc.symbol:CFAP298 semapv:UnspecifiedMatching OMIM:615494 CFAP298 skos:exactMatch ncbigene:56683 semapv:UnspecifiedMatching -OMIM:615495 GMPPA skos:exactMatch hgnc:GMPPA semapv:UnspecifiedMatching +OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:22923 semapv:UnspecifiedMatching +OMIM:615495 GMPPA skos:exactMatch hgnc.symbol:GMPPA semapv:UnspecifiedMatching OMIM:615495 GMPPA skos:exactMatch ncbigene:29926 semapv:UnspecifiedMatching -OMIM:615496 AGBL1 skos:exactMatch hgnc:AGBL1 semapv:UnspecifiedMatching +OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:26504 semapv:UnspecifiedMatching +OMIM:615496 AGBL1 skos:exactMatch hgnc.symbol:AGBL1 semapv:UnspecifiedMatching OMIM:615496 AGBL1 skos:exactMatch ncbigene:123624 semapv:UnspecifiedMatching -OMIM:615497 MIEF1 skos:exactMatch hgnc:MIEF1 semapv:UnspecifiedMatching +OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:25979 semapv:UnspecifiedMatching +OMIM:615497 MIEF1 skos:exactMatch hgnc.symbol:MIEF1 semapv:UnspecifiedMatching OMIM:615497 MIEF1 skos:exactMatch ncbigene:54471 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch UMLS:C1425177 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching -OMIM:615498 MIEF2 skos:exactMatch hgnc:MIEF2 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:17920 semapv:UnspecifiedMatching +OMIM:615498 MIEF2 skos:exactMatch hgnc.symbol:MIEF2 semapv:UnspecifiedMatching OMIM:615498 MIEF2 skos:exactMatch ncbigene:125170 semapv:UnspecifiedMatching -OMIM:615499 PDP2 skos:exactMatch hgnc:PDP2 semapv:UnspecifiedMatching +OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:30263 semapv:UnspecifiedMatching +OMIM:615499 PDP2 skos:exactMatch hgnc.symbol:PDP2 semapv:UnspecifiedMatching OMIM:615499 PDP2 skos:exactMatch ncbigene:57546 semapv:UnspecifiedMatching +OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch UMLS:C3809684 semapv:UnspecifiedMatching -OMIM:615500 ciliary dyskinesia, primary, 26 skos:exactMatch orphanet.ordo:244 semapv:UnspecifiedMatching -OMIM:615507 NISCH skos:exactMatch hgnc:NISCH semapv:UnspecifiedMatching +OMIM:615507 NISCH skos:exactMatch hgnc.symbol:18006 semapv:UnspecifiedMatching +OMIM:615507 NISCH skos:exactMatch hgnc.symbol:NISCH semapv:UnspecifiedMatching OMIM:615507 NISCH skos:exactMatch ncbigene:11188 semapv:UnspecifiedMatching -OMIM:615509 MIR675 skos:exactMatch hgnc:MIR675 semapv:UnspecifiedMatching +OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:33351 semapv:UnspecifiedMatching +OMIM:615509 MIR675 skos:exactMatch hgnc.symbol:MIR675 semapv:UnspecifiedMatching OMIM:615509 MIR675 skos:exactMatch ncbigene:100033819 semapv:UnspecifiedMatching -OMIM:615514 CDK12 skos:exactMatch hgnc:CDK12 semapv:UnspecifiedMatching +OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:24224 semapv:UnspecifiedMatching +OMIM:615514 CDK12 skos:exactMatch hgnc.symbol:CDK12 semapv:UnspecifiedMatching OMIM:615514 CDK12 skos:exactMatch ncbigene:51755 semapv:UnspecifiedMatching -OMIM:615519 TOM1L2 skos:exactMatch hgnc:TOM1L2 semapv:UnspecifiedMatching +OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:11984 semapv:UnspecifiedMatching +OMIM:615519 TOM1L2 skos:exactMatch hgnc.symbol:TOM1L2 semapv:UnspecifiedMatching OMIM:615519 TOM1L2 skos:exactMatch ncbigene:146691 semapv:UnspecifiedMatching -OMIM:615520 MIR297 skos:exactMatch hgnc:MIR297 semapv:UnspecifiedMatching +OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:33691 semapv:UnspecifiedMatching +OMIM:615520 MIR297 skos:exactMatch hgnc.symbol:MIR297 semapv:UnspecifiedMatching OMIM:615520 MIR297 skos:exactMatch ncbigene:100126354 semapv:UnspecifiedMatching OMIM:615521 STAC3 skos:exactMatch UMLS:C1539880 semapv:UnspecifiedMatching OMIM:615521 STAC3 skos:exactMatch UMLS:C1850625 semapv:UnspecifiedMatching -OMIM:615521 STAC3 skos:exactMatch hgnc:STAC3 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:28423 semapv:UnspecifiedMatching +OMIM:615521 STAC3 skos:exactMatch hgnc.symbol:STAC3 semapv:UnspecifiedMatching OMIM:615521 STAC3 skos:exactMatch ncbigene:246329 semapv:UnspecifiedMatching -OMIM:615525 COPG1 skos:exactMatch hgnc:COPG1 semapv:UnspecifiedMatching +OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:2236 semapv:UnspecifiedMatching +OMIM:615525 COPG1 skos:exactMatch hgnc.symbol:COPG1 semapv:UnspecifiedMatching OMIM:615525 COPG1 skos:exactMatch ncbigene:22820 semapv:UnspecifiedMatching -OMIM:615526 COPZ2 skos:exactMatch hgnc:COPZ2 semapv:UnspecifiedMatching +OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:19356 semapv:UnspecifiedMatching +OMIM:615526 COPZ2 skos:exactMatch hgnc.symbol:COPZ2 semapv:UnspecifiedMatching OMIM:615526 COPZ2 skos:exactMatch ncbigene:51226 semapv:UnspecifiedMatching -OMIM:615531 TMEM79 skos:exactMatch hgnc:TMEM79 semapv:UnspecifiedMatching +OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:28196 semapv:UnspecifiedMatching +OMIM:615531 TMEM79 skos:exactMatch hgnc.symbol:TMEM79 semapv:UnspecifiedMatching OMIM:615531 TMEM79 skos:exactMatch ncbigene:84283 semapv:UnspecifiedMatching -OMIM:615532 ERMARD skos:exactMatch hgnc:ERMARD semapv:UnspecifiedMatching +OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:21056 semapv:UnspecifiedMatching +OMIM:615532 ERMARD skos:exactMatch hgnc.symbol:ERMARD semapv:UnspecifiedMatching OMIM:615532 ERMARD skos:exactMatch ncbigene:55780 semapv:UnspecifiedMatching -OMIM:615533 TMEM126B skos:exactMatch hgnc:TMEM126B semapv:UnspecifiedMatching +OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:30883 semapv:UnspecifiedMatching +OMIM:615533 TMEM126B skos:exactMatch hgnc.symbol:TMEM126B semapv:UnspecifiedMatching OMIM:615533 TMEM126B skos:exactMatch ncbigene:55863 semapv:UnspecifiedMatching -OMIM:615534 TIMMDC1 skos:exactMatch hgnc:TIMMDC1 semapv:UnspecifiedMatching +OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:1321 semapv:UnspecifiedMatching +OMIM:615534 TIMMDC1 skos:exactMatch hgnc.symbol:TIMMDC1 semapv:UnspecifiedMatching OMIM:615534 TIMMDC1 skos:exactMatch ncbigene:51300 semapv:UnspecifiedMatching -OMIM:615535 SYNE4 skos:exactMatch hgnc:SYNE4 semapv:UnspecifiedMatching +OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:26703 semapv:UnspecifiedMatching +OMIM:615535 SYNE4 skos:exactMatch hgnc.symbol:SYNE4 semapv:UnspecifiedMatching OMIM:615535 SYNE4 skos:exactMatch ncbigene:163183 semapv:UnspecifiedMatching -OMIM:615536 C2ORF80 skos:exactMatch hgnc:C2orf80 semapv:UnspecifiedMatching +OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:34352 semapv:UnspecifiedMatching +OMIM:615536 C2ORF80 skos:exactMatch hgnc.symbol:C2orf80 semapv:UnspecifiedMatching OMIM:615536 C2ORF80 skos:exactMatch ncbigene:389073 semapv:UnspecifiedMatching +OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch Orphanet:391307 semapv:UnspecifiedMatching OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch UMLS:C3809853 semapv:UnspecifiedMatching -OMIM:615541 intellectual developmental disorder, autosomal recessive 39 skos:exactMatch orphanet.ordo:391307 semapv:UnspecifiedMatching -OMIM:615543 ARPIN skos:exactMatch hgnc:ARPIN semapv:UnspecifiedMatching +OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:28782 semapv:UnspecifiedMatching +OMIM:615543 ARPIN skos:exactMatch hgnc.symbol:ARPIN semapv:UnspecifiedMatching OMIM:615543 ARPIN skos:exactMatch ncbigene:348110 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:398069 semapv:UnspecifiedMatching +OMIM:615547 schaaf-yang syndrome skos:exactMatch Orphanet:739 semapv:UnspecifiedMatching OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C1859724 semapv:UnspecifiedMatching OMIM:615547 schaaf-yang syndrome skos:exactMatch UMLS:C3809877 semapv:UnspecifiedMatching -OMIM:615547 schaaf-yang syndrome skos:exactMatch orphanet.ordo:398069 semapv:UnspecifiedMatching -OMIM:615547 schaaf-yang syndrome skos:exactMatch orphanet.ordo:739 semapv:UnspecifiedMatching -OMIM:615549 ARMC5 skos:exactMatch hgnc:ARMC5 semapv:UnspecifiedMatching +OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:25781 semapv:UnspecifiedMatching +OMIM:615549 ARMC5 skos:exactMatch hgnc.symbol:ARMC5 semapv:UnspecifiedMatching OMIM:615549 ARMC5 skos:exactMatch ncbigene:79798 semapv:UnspecifiedMatching +OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch UMLS:C3809888 semapv:UnspecifiedMatching -OMIM:615550 diamond-blackfan anemia 12 skos:exactMatch orphanet.ordo:124 semapv:UnspecifiedMatching OMIM:615556 ATAT1 skos:exactMatch UMLS:C1427398 semapv:UnspecifiedMatching -OMIM:615556 ATAT1 skos:exactMatch hgnc:ATAT1 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:21186 semapv:UnspecifiedMatching +OMIM:615556 ATAT1 skos:exactMatch hgnc.symbol:ATAT1 semapv:UnspecifiedMatching OMIM:615556 ATAT1 skos:exactMatch ncbigene:79969 semapv:UnspecifiedMatching +OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch UMLS:C3714942 semapv:UnspecifiedMatching -OMIM:615560 otofaciocervical syndrome 2, with t-cell deficiency skos:exactMatch orphanet.ordo:2792 semapv:UnspecifiedMatching OMIM:615561 complement factor B deficiency skos:exactMatch UMLS:C3809950 semapv:UnspecifiedMatching -OMIM:615562 SPAG5 skos:exactMatch hgnc:SPAG5 semapv:UnspecifiedMatching +OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:13452 semapv:UnspecifiedMatching +OMIM:615562 SPAG5 skos:exactMatch hgnc.symbol:SPAG5 semapv:UnspecifiedMatching OMIM:615562 SPAG5 skos:exactMatch ncbigene:10615 semapv:UnspecifiedMatching -OMIM:615563 NRBP2 skos:exactMatch hgnc:NRBP2 semapv:UnspecifiedMatching +OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:19339 semapv:UnspecifiedMatching +OMIM:615563 NRBP2 skos:exactMatch hgnc.symbol:NRBP2 semapv:UnspecifiedMatching OMIM:615563 NRBP2 skos:exactMatch ncbigene:340371 semapv:UnspecifiedMatching -OMIM:615564 SFXN4 skos:exactMatch hgnc:SFXN4 semapv:UnspecifiedMatching +OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:16088 semapv:UnspecifiedMatching +OMIM:615564 SFXN4 skos:exactMatch hgnc.symbol:SFXN4 semapv:UnspecifiedMatching OMIM:615564 SFXN4 skos:exactMatch ncbigene:119559 semapv:UnspecifiedMatching -OMIM:615566 BTBD3 skos:exactMatch hgnc:BTBD3 semapv:UnspecifiedMatching +OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:15854 semapv:UnspecifiedMatching +OMIM:615566 BTBD3 skos:exactMatch hgnc.symbol:BTBD3 semapv:UnspecifiedMatching OMIM:615566 BTBD3 skos:exactMatch ncbigene:22903 semapv:UnspecifiedMatching -OMIM:615567 COQ8B skos:exactMatch hgnc:COQ8B semapv:UnspecifiedMatching +OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:19041 semapv:UnspecifiedMatching +OMIM:615567 COQ8B skos:exactMatch hgnc.symbol:COQ8B semapv:UnspecifiedMatching OMIM:615567 COQ8B skos:exactMatch ncbigene:79934 semapv:UnspecifiedMatching -OMIM:615568 SCHLAP1 skos:exactMatch hgnc:SCHLAP1 semapv:UnspecifiedMatching +OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:48603 semapv:UnspecifiedMatching +OMIM:615568 SCHLAP1 skos:exactMatch hgnc.symbol:SCHLAP1 semapv:UnspecifiedMatching OMIM:615568 SCHLAP1 skos:exactMatch ncbigene:101669767 semapv:UnspecifiedMatching -OMIM:615569 SFXN1 skos:exactMatch hgnc:SFXN1 semapv:UnspecifiedMatching +OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:16085 semapv:UnspecifiedMatching +OMIM:615569 SFXN1 skos:exactMatch hgnc.symbol:SFXN1 semapv:UnspecifiedMatching OMIM:615569 SFXN1 skos:exactMatch ncbigene:94081 semapv:UnspecifiedMatching -OMIM:615570 SFXN2 skos:exactMatch hgnc:SFXN2 semapv:UnspecifiedMatching +OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:16086 semapv:UnspecifiedMatching +OMIM:615570 SFXN2 skos:exactMatch hgnc.symbol:SFXN2 semapv:UnspecifiedMatching OMIM:615570 SFXN2 skos:exactMatch ncbigene:118980 semapv:UnspecifiedMatching -OMIM:615571 SFXN3 skos:exactMatch hgnc:SFXN3 semapv:UnspecifiedMatching +OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:16087 semapv:UnspecifiedMatching +OMIM:615571 SFXN3 skos:exactMatch hgnc.symbol:SFXN3 semapv:UnspecifiedMatching OMIM:615571 SFXN3 skos:exactMatch ncbigene:81855 semapv:UnspecifiedMatching -OMIM:615572 SFXN5 skos:exactMatch hgnc:SFXN5 semapv:UnspecifiedMatching +OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:16073 semapv:UnspecifiedMatching +OMIM:615572 SFXN5 skos:exactMatch hgnc.symbol:SFXN5 semapv:UnspecifiedMatching OMIM:615572 SFXN5 skos:exactMatch ncbigene:94097 semapv:UnspecifiedMatching +OMIM:615574 asparagine synthetase deficiency skos:exactMatch Orphanet:391376 semapv:UnspecifiedMatching OMIM:615574 asparagine synthetase deficiency skos:exactMatch UMLS:C3809971 semapv:UnspecifiedMatching -OMIM:615574 asparagine synthetase deficiency skos:exactMatch orphanet.ordo:391376 semapv:UnspecifiedMatching -OMIM:615576 MIR185 skos:exactMatch hgnc:MIR185 semapv:UnspecifiedMatching +OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:31556 semapv:UnspecifiedMatching +OMIM:615576 MIR185 skos:exactMatch hgnc.symbol:MIR185 semapv:UnspecifiedMatching OMIM:615576 MIR185 skos:exactMatch ncbigene:406961 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching +OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch Orphanet:293978 semapv:UnspecifiedMatching OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch UMLS:C3809991 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch orphanet.ordo:1572 semapv:UnspecifiedMatching -OMIM:615577 immunodeficiency, common variable, 10 skos:exactMatch orphanet.ordo:293978 semapv:UnspecifiedMatching -OMIM:615579 ATXN7L3B skos:exactMatch hgnc:ATXN7L3B semapv:UnspecifiedMatching +OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:37931 semapv:UnspecifiedMatching +OMIM:615579 ATXN7L3B skos:exactMatch hgnc.symbol:ATXN7L3B semapv:UnspecifiedMatching OMIM:615579 ATXN7L3B skos:exactMatch ncbigene:552889 semapv:UnspecifiedMatching -OMIM:615580 ZNF528 skos:exactMatch hgnc:ZNF528 semapv:UnspecifiedMatching +OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:29384 semapv:UnspecifiedMatching +OMIM:615580 ZNF528 skos:exactMatch hgnc.symbol:ZNF528 semapv:UnspecifiedMatching OMIM:615580 ZNF528 skos:exactMatch ncbigene:84436 semapv:UnspecifiedMatching -OMIM:615581 DUX4L9 skos:exactMatch hgnc:DUX4L9 semapv:UnspecifiedMatching +OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:33855 semapv:UnspecifiedMatching +OMIM:615581 DUX4L9 skos:exactMatch hgnc.symbol:DUX4L9 semapv:UnspecifiedMatching OMIM:615581 DUX4L9 skos:exactMatch ncbigene:100288711 semapv:UnspecifiedMatching -OMIM:615584 FAM111B skos:exactMatch hgnc:FAM111B semapv:UnspecifiedMatching +OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:24200 semapv:UnspecifiedMatching +OMIM:615584 FAM111B skos:exactMatch hgnc.symbol:FAM111B semapv:UnspecifiedMatching OMIM:615584 FAM111B skos:exactMatch ncbigene:374393 semapv:UnspecifiedMatching -OMIM:615585 SLC38A8 skos:exactMatch hgnc:SLC38A8 semapv:UnspecifiedMatching +OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:32434 semapv:UnspecifiedMatching +OMIM:615585 SLC38A8 skos:exactMatch hgnc.symbol:SLC38A8 semapv:UnspecifiedMatching OMIM:615585 SLC38A8 skos:exactMatch ncbigene:146167 semapv:UnspecifiedMatching -OMIM:615586 CEP19 skos:exactMatch hgnc:CEP19 semapv:UnspecifiedMatching +OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:28209 semapv:UnspecifiedMatching +OMIM:615586 CEP19 skos:exactMatch hgnc.symbol:CEP19 semapv:UnspecifiedMatching OMIM:615586 CEP19 skos:exactMatch ncbigene:84984 semapv:UnspecifiedMatching OMIM:615587 NUP188 skos:exactMatch UMLS:C1425136 semapv:UnspecifiedMatching OMIM:615587 NUP188 skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching -OMIM:615587 NUP188 skos:exactMatch hgnc:NUP188 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:17859 semapv:UnspecifiedMatching +OMIM:615587 NUP188 skos:exactMatch hgnc.symbol:NUP188 semapv:UnspecifiedMatching OMIM:615587 NUP188 skos:exactMatch ncbigene:23511 semapv:UnspecifiedMatching -OMIM:615588 SMDT1 skos:exactMatch hgnc:SMDT1 semapv:UnspecifiedMatching +OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:25055 semapv:UnspecifiedMatching +OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:SMDT1 semapv:UnspecifiedMatching OMIM:615588 SMDT1 skos:exactMatch ncbigene:91689 semapv:UnspecifiedMatching +OMIM:615592 immunodeficiency 15b skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching OMIM:615592 immunodeficiency 15b skos:exactMatch UMLS:C4747743 semapv:UnspecifiedMatching -OMIM:615592 immunodeficiency 15b skos:exactMatch orphanet.ordo:397787 semapv:UnspecifiedMatching -OMIM:615594 APELA skos:exactMatch hgnc:APELA semapv:UnspecifiedMatching +OMIM:615594 APELA skos:exactMatch hgnc.symbol:48925 semapv:UnspecifiedMatching +OMIM:615594 APELA skos:exactMatch hgnc.symbol:APELA semapv:UnspecifiedMatching OMIM:615594 APELA skos:exactMatch ncbigene:100506013 semapv:UnspecifiedMatching +OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch Orphanet:370921 semapv:UnspecifiedMatching OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch UMLS:C3810062 semapv:UnspecifiedMatching -OMIM:615596 congenital disorder of glycosylation, iia iw, autosomal recessive skos:exactMatch orphanet.ordo:370921 semapv:UnspecifiedMatching +OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch Orphanet:397951 semapv:UnspecifiedMatching OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch UMLS:C3810080 semapv:UnspecifiedMatching -OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity skos:exactMatch orphanet.ordo:397951 semapv:UnspecifiedMatching -OMIM:615600 ZNF582 skos:exactMatch hgnc:ZNF582 semapv:UnspecifiedMatching +OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:26421 semapv:UnspecifiedMatching +OMIM:615600 ZNF582 skos:exactMatch hgnc.symbol:ZNF582 semapv:UnspecifiedMatching OMIM:615600 ZNF582 skos:exactMatch ncbigene:147948 semapv:UnspecifiedMatching -OMIM:615601 GADL1 skos:exactMatch hgnc:GADL1 semapv:UnspecifiedMatching +OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:27949 semapv:UnspecifiedMatching +OMIM:615601 GADL1 skos:exactMatch hgnc.symbol:GADL1 semapv:UnspecifiedMatching OMIM:615601 GADL1 skos:exactMatch ncbigene:339896 semapv:UnspecifiedMatching -OMIM:615603 CPPED1 skos:exactMatch hgnc:CPPED1 semapv:UnspecifiedMatching +OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:25632 semapv:UnspecifiedMatching +OMIM:615603 CPPED1 skos:exactMatch hgnc.symbol:CPPED1 semapv:UnspecifiedMatching OMIM:615603 CPPED1 skos:exactMatch ncbigene:55313 semapv:UnspecifiedMatching +OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch UMLS:C3810100 semapv:UnspecifiedMatching -OMIM:615605 fanconi renotubular syndrome 3 skos:exactMatch orphanet.ordo:3337 semapv:UnspecifiedMatching -OMIM:615606 BTNL8 skos:exactMatch hgnc:BTNL8 semapv:UnspecifiedMatching +OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:26131 semapv:UnspecifiedMatching +OMIM:615606 BTNL8 skos:exactMatch hgnc.symbol:BTNL8 semapv:UnspecifiedMatching OMIM:615606 BTNL8 skos:exactMatch ncbigene:79908 semapv:UnspecifiedMatching OMIM:615608 VSIR skos:exactMatch UMLS:C1824302 semapv:UnspecifiedMatching -OMIM:615608 VSIR skos:exactMatch hgnc:VSIR semapv:UnspecifiedMatching +OMIM:615608 VSIR skos:exactMatch hgnc.symbol:30085 semapv:UnspecifiedMatching +OMIM:615608 VSIR skos:exactMatch hgnc.symbol:VSIR semapv:UnspecifiedMatching OMIM:615608 VSIR skos:exactMatch ncbigene:64115 semapv:UnspecifiedMatching -OMIM:615609 SIAH3 skos:exactMatch hgnc:SIAH3 semapv:UnspecifiedMatching +OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:30553 semapv:UnspecifiedMatching +OMIM:615609 SIAH3 skos:exactMatch hgnc.symbol:SIAH3 semapv:UnspecifiedMatching OMIM:615609 SIAH3 skos:exactMatch ncbigene:283514 semapv:UnspecifiedMatching -OMIM:615610 CDHR3 skos:exactMatch hgnc:CDHR3 semapv:UnspecifiedMatching +OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:26308 semapv:UnspecifiedMatching +OMIM:615610 CDHR3 skos:exactMatch hgnc.symbol:CDHR3 semapv:UnspecifiedMatching OMIM:615610 CDHR3 skos:exactMatch ncbigene:222256 semapv:UnspecifiedMatching -OMIM:615611 CLPX skos:exactMatch hgnc:CLPX semapv:UnspecifiedMatching +OMIM:615611 CLPX skos:exactMatch hgnc.symbol:2088 semapv:UnspecifiedMatching +OMIM:615611 CLPX skos:exactMatch hgnc.symbol:CLPX semapv:UnspecifiedMatching OMIM:615611 CLPX skos:exactMatch ncbigene:10845 semapv:UnspecifiedMatching -OMIM:615613 HCCAT5 skos:exactMatch hgnc:HCCAT5 semapv:UnspecifiedMatching +OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:48612 semapv:UnspecifiedMatching +OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:HCCAT5 semapv:UnspecifiedMatching OMIM:615613 HCCAT5 skos:exactMatch ncbigene:283902 semapv:UnspecifiedMatching -OMIM:615614 MMS22L skos:exactMatch hgnc:MMS22L semapv:UnspecifiedMatching +OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:21475 semapv:UnspecifiedMatching +OMIM:615614 MMS22L skos:exactMatch hgnc.symbol:MMS22L semapv:UnspecifiedMatching OMIM:615614 MMS22L skos:exactMatch ncbigene:253714 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching +OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch UMLS:C3810138 semapv:UnspecifiedMatching -OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch orphanet.ordo:217656 semapv:UnspecifiedMatching -OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 skos:exactMatch orphanet.ordo:293910 semapv:UnspecifiedMatching -OMIM:615618 POGLUT1 skos:exactMatch hgnc:POGLUT1 semapv:UnspecifiedMatching +OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:22954 semapv:UnspecifiedMatching +OMIM:615618 POGLUT1 skos:exactMatch hgnc.symbol:POGLUT1 semapv:UnspecifiedMatching OMIM:615618 POGLUT1 skos:exactMatch ncbigene:56983 semapv:UnspecifiedMatching -OMIM:615620 KPTN skos:exactMatch hgnc:KPTN semapv:UnspecifiedMatching +OMIM:615620 KPTN skos:exactMatch hgnc.symbol:6404 semapv:UnspecifiedMatching +OMIM:615620 KPTN skos:exactMatch hgnc.symbol:KPTN semapv:UnspecifiedMatching OMIM:615620 KPTN skos:exactMatch ncbigene:11133 semapv:UnspecifiedMatching -OMIM:615621 RESF1 skos:exactMatch hgnc:RESF1 semapv:UnspecifiedMatching +OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:25559 semapv:UnspecifiedMatching +OMIM:615621 RESF1 skos:exactMatch hgnc.symbol:RESF1 semapv:UnspecifiedMatching OMIM:615621 RESF1 skos:exactMatch ncbigene:55196 semapv:UnspecifiedMatching -OMIM:615622 THRIL skos:exactMatch hgnc:THRIL semapv:UnspecifiedMatching +OMIM:615622 THRIL skos:exactMatch hgnc.symbol:49503 semapv:UnspecifiedMatching +OMIM:615622 THRIL skos:exactMatch hgnc.symbol:THRIL semapv:UnspecifiedMatching OMIM:615622 THRIL skos:exactMatch ncbigene:102659353 semapv:UnspecifiedMatching -OMIM:615623 COA7 skos:exactMatch hgnc:COA7 semapv:UnspecifiedMatching +OMIM:615623 COA7 skos:exactMatch hgnc.symbol:25716 semapv:UnspecifiedMatching +OMIM:615623 COA7 skos:exactMatch hgnc.symbol:COA7 semapv:UnspecifiedMatching OMIM:615623 COA7 skos:exactMatch ncbigene:65260 semapv:UnspecifiedMatching -OMIM:615624 CRNDE skos:exactMatch hgnc:CRNDE semapv:UnspecifiedMatching +OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:37078 semapv:UnspecifiedMatching +OMIM:615624 CRNDE skos:exactMatch hgnc.symbol:CRNDE semapv:UnspecifiedMatching OMIM:615624 CRNDE skos:exactMatch ncbigene:643911 semapv:UnspecifiedMatching -OMIM:615626 CDIN1 skos:exactMatch hgnc:CDIN1 semapv:UnspecifiedMatching +OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:26929 semapv:UnspecifiedMatching +OMIM:615626 CDIN1 skos:exactMatch hgnc.symbol:CDIN1 semapv:UnspecifiedMatching OMIM:615626 CDIN1 skos:exactMatch ncbigene:84529 semapv:UnspecifiedMatching -OMIM:615627 BRI3BP skos:exactMatch hgnc:BRI3BP semapv:UnspecifiedMatching +OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:14251 semapv:UnspecifiedMatching +OMIM:615627 BRI3BP skos:exactMatch hgnc.symbol:BRI3BP semapv:UnspecifiedMatching OMIM:615627 BRI3BP skos:exactMatch ncbigene:140707 semapv:UnspecifiedMatching -OMIM:615628 BRI3 skos:exactMatch hgnc:BRI3 semapv:UnspecifiedMatching +OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:1109 semapv:UnspecifiedMatching +OMIM:615628 BRI3 skos:exactMatch hgnc.symbol:BRI3 semapv:UnspecifiedMatching OMIM:615628 BRI3 skos:exactMatch ncbigene:25798 semapv:UnspecifiedMatching +OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch Orphanet:36386 semapv:UnspecifiedMatching OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch UMLS:C3810194 semapv:UnspecifiedMatching -OMIM:615632 neuropathy, hereditary sensory, iia 1f skos:exactMatch orphanet.ordo:36386 semapv:UnspecifiedMatching -OMIM:615634 CHCHD6 skos:exactMatch hgnc:CHCHD6 semapv:UnspecifiedMatching +OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:28184 semapv:UnspecifiedMatching +OMIM:615634 CHCHD6 skos:exactMatch hgnc.symbol:CHCHD6 semapv:UnspecifiedMatching OMIM:615634 CHCHD6 skos:exactMatch ncbigene:84303 semapv:UnspecifiedMatching -OMIM:615635 ZFR skos:exactMatch hgnc:ZFR semapv:UnspecifiedMatching +OMIM:615635 ZFR skos:exactMatch hgnc.symbol:17277 semapv:UnspecifiedMatching +OMIM:615635 ZFR skos:exactMatch hgnc.symbol:ZFR semapv:UnspecifiedMatching OMIM:615635 ZFR skos:exactMatch ncbigene:51663 semapv:UnspecifiedMatching -OMIM:615638 NCAPD2 skos:exactMatch hgnc:NCAPD2 semapv:UnspecifiedMatching +OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:24305 semapv:UnspecifiedMatching +OMIM:615638 NCAPD2 skos:exactMatch hgnc.symbol:NCAPD2 semapv:UnspecifiedMatching OMIM:615638 NCAPD2 skos:exactMatch ncbigene:9918 semapv:UnspecifiedMatching -OMIM:615639 SCARNA10 skos:exactMatch hgnc:SCARNA10 semapv:UnspecifiedMatching +OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:32567 semapv:UnspecifiedMatching +OMIM:615639 SCARNA10 skos:exactMatch hgnc.symbol:SCARNA10 semapv:UnspecifiedMatching OMIM:615639 SCARNA10 skos:exactMatch ncbigene:692148 semapv:UnspecifiedMatching -OMIM:615640 SCARNA5 skos:exactMatch hgnc:SCARNA5 semapv:UnspecifiedMatching +OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:32561 semapv:UnspecifiedMatching +OMIM:615640 SCARNA5 skos:exactMatch hgnc.symbol:SCARNA5 semapv:UnspecifiedMatching OMIM:615640 SCARNA5 skos:exactMatch ncbigene:677775 semapv:UnspecifiedMatching -OMIM:615641 SCARNA6 skos:exactMatch hgnc:SCARNA6 semapv:UnspecifiedMatching +OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:32562 semapv:UnspecifiedMatching +OMIM:615641 SCARNA6 skos:exactMatch hgnc.symbol:SCARNA6 semapv:UnspecifiedMatching OMIM:615641 SCARNA6 skos:exactMatch ncbigene:677772 semapv:UnspecifiedMatching -OMIM:615642 SCARNA12 skos:exactMatch hgnc:SCARNA12 semapv:UnspecifiedMatching +OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:32569 semapv:UnspecifiedMatching +OMIM:615642 SCARNA12 skos:exactMatch hgnc.symbol:SCARNA12 semapv:UnspecifiedMatching OMIM:615642 SCARNA12 skos:exactMatch ncbigene:677777 semapv:UnspecifiedMatching -OMIM:615644 SCARNA7 skos:exactMatch hgnc:SCARNA7 semapv:UnspecifiedMatching +OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:32563 semapv:UnspecifiedMatching +OMIM:615644 SCARNA7 skos:exactMatch hgnc.symbol:SCARNA7 semapv:UnspecifiedMatching OMIM:615644 SCARNA7 skos:exactMatch ncbigene:677767 semapv:UnspecifiedMatching -OMIM:615645 SCARNA17 skos:exactMatch hgnc:SCARNA17 semapv:UnspecifiedMatching +OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:32574 semapv:UnspecifiedMatching +OMIM:615645 SCARNA17 skos:exactMatch hgnc.symbol:SCARNA17 semapv:UnspecifiedMatching OMIM:615645 SCARNA17 skos:exactMatch ncbigene:677769 semapv:UnspecifiedMatching -OMIM:615646 SCARNA8 skos:exactMatch hgnc:SCARNA8 semapv:UnspecifiedMatching +OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:32564 semapv:UnspecifiedMatching +OMIM:615646 SCARNA8 skos:exactMatch hgnc.symbol:SCARNA8 semapv:UnspecifiedMatching OMIM:615646 SCARNA8 skos:exactMatch ncbigene:677776 semapv:UnspecifiedMatching -OMIM:615647 TEX19 skos:exactMatch hgnc:TEX19 semapv:UnspecifiedMatching +OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:33802 semapv:UnspecifiedMatching +OMIM:615647 TEX19 skos:exactMatch hgnc.symbol:TEX19 semapv:UnspecifiedMatching OMIM:615647 TEX19 skos:exactMatch ncbigene:400629 semapv:UnspecifiedMatching -OMIM:615648 NLRC3 skos:exactMatch hgnc:NLRC3 semapv:UnspecifiedMatching +OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:29889 semapv:UnspecifiedMatching +OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:NLRC3 semapv:UnspecifiedMatching OMIM:615648 NLRC3 skos:exactMatch ncbigene:197358 semapv:UnspecifiedMatching -OMIM:615650 RGS22 skos:exactMatch hgnc:RGS22 semapv:UnspecifiedMatching +OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:24499 semapv:UnspecifiedMatching +OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:RGS22 semapv:UnspecifiedMatching OMIM:615650 RGS22 skos:exactMatch ncbigene:26166 semapv:UnspecifiedMatching -OMIM:615652 ACOT13 skos:exactMatch hgnc:ACOT13 semapv:UnspecifiedMatching +OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:20999 semapv:UnspecifiedMatching +OMIM:615652 ACOT13 skos:exactMatch hgnc.symbol:ACOT13 semapv:UnspecifiedMatching OMIM:615652 ACOT13 skos:exactMatch ncbigene:55856 semapv:UnspecifiedMatching -OMIM:615653 THEM5 skos:exactMatch hgnc:THEM5 semapv:UnspecifiedMatching +OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:26755 semapv:UnspecifiedMatching +OMIM:615653 THEM5 skos:exactMatch hgnc.symbol:THEM5 semapv:UnspecifiedMatching OMIM:615653 THEM5 skos:exactMatch ncbigene:284486 semapv:UnspecifiedMatching -OMIM:615655 ZRANB3 skos:exactMatch hgnc:ZRANB3 semapv:UnspecifiedMatching +OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:25249 semapv:UnspecifiedMatching +OMIM:615655 ZRANB3 skos:exactMatch hgnc.symbol:ZRANB3 semapv:UnspecifiedMatching OMIM:615655 ZRANB3 skos:exactMatch ncbigene:84083 semapv:UnspecifiedMatching -OMIM:615657 MIR142 skos:exactMatch hgnc:MIR142 semapv:UnspecifiedMatching +OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:31529 semapv:UnspecifiedMatching +OMIM:615657 MIR142 skos:exactMatch hgnc.symbol:MIR142 semapv:UnspecifiedMatching OMIM:615657 MIR142 skos:exactMatch ncbigene:406934 semapv:UnspecifiedMatching -OMIM:615659 TMEM131 skos:exactMatch hgnc:TMEM131 semapv:UnspecifiedMatching +OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:30366 semapv:UnspecifiedMatching +OMIM:615659 TMEM131 skos:exactMatch hgnc.symbol:TMEM131 semapv:UnspecifiedMatching OMIM:615659 TMEM131 skos:exactMatch ncbigene:23505 semapv:UnspecifiedMatching -OMIM:615660 RPL10A skos:exactMatch hgnc:RPL10A semapv:UnspecifiedMatching +OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:10299 semapv:UnspecifiedMatching +OMIM:615660 RPL10A skos:exactMatch hgnc.symbol:RPL10A semapv:UnspecifiedMatching OMIM:615660 RPL10A skos:exactMatch ncbigene:4736 semapv:UnspecifiedMatching -OMIM:615661 PDCD2L skos:exactMatch hgnc:PDCD2L semapv:UnspecifiedMatching +OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:28194 semapv:UnspecifiedMatching +OMIM:615661 PDCD2L skos:exactMatch hgnc.symbol:PDCD2L semapv:UnspecifiedMatching OMIM:615661 PDCD2L skos:exactMatch ncbigene:84306 semapv:UnspecifiedMatching -OMIM:615662 SERPINB12 skos:exactMatch hgnc:SERPINB12 semapv:UnspecifiedMatching +OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:14220 semapv:UnspecifiedMatching +OMIM:615662 SERPINB12 skos:exactMatch hgnc.symbol:SERPINB12 semapv:UnspecifiedMatching OMIM:615662 SERPINB12 skos:exactMatch ncbigene:89777 semapv:UnspecifiedMatching +OMIM:615663 warburg micro syndrome 4 skos:exactMatch Orphanet:2510 semapv:UnspecifiedMatching OMIM:615663 warburg micro syndrome 4 skos:exactMatch UMLS:C3810265 semapv:UnspecifiedMatching -OMIM:615663 warburg micro syndrome 4 skos:exactMatch orphanet.ordo:2510 semapv:UnspecifiedMatching -OMIM:615664 TESPA1 skos:exactMatch hgnc:TESPA1 semapv:UnspecifiedMatching +OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:29109 semapv:UnspecifiedMatching +OMIM:615664 TESPA1 skos:exactMatch hgnc.symbol:TESPA1 semapv:UnspecifiedMatching OMIM:615664 TESPA1 skos:exactMatch ncbigene:9840 semapv:UnspecifiedMatching +OMIM:615665 joubert syndrome 22 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching OMIM:615665 joubert syndrome 22 skos:exactMatch UMLS:C3810278 semapv:UnspecifiedMatching -OMIM:615665 joubert syndrome 22 skos:exactMatch orphanet.ordo:2754 semapv:UnspecifiedMatching -OMIM:615666 KIAA1456 skos:exactMatch hgnc:TRMT9B semapv:UnspecifiedMatching +OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:26725 semapv:UnspecifiedMatching +OMIM:615666 KIAA1456 skos:exactMatch hgnc.symbol:TRMT9B semapv:UnspecifiedMatching OMIM:615666 KIAA1456 skos:exactMatch ncbigene:57604 semapv:UnspecifiedMatching -OMIM:615667 ERCC6L2 skos:exactMatch hgnc:ERCC6L2 semapv:UnspecifiedMatching +OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:26922 semapv:UnspecifiedMatching +OMIM:615667 ERCC6L2 skos:exactMatch hgnc.symbol:ERCC6L2 semapv:UnspecifiedMatching OMIM:615667 ERCC6L2 skos:exactMatch ncbigene:375748 semapv:UnspecifiedMatching -OMIM:615669 EMB skos:exactMatch hgnc:EMB semapv:UnspecifiedMatching +OMIM:615669 EMB skos:exactMatch hgnc.symbol:30465 semapv:UnspecifiedMatching +OMIM:615669 EMB skos:exactMatch hgnc.symbol:EMB semapv:UnspecifiedMatching OMIM:615669 EMB skos:exactMatch ncbigene:133418 semapv:UnspecifiedMatching -OMIM:615671 SETD3 skos:exactMatch hgnc:SETD3 semapv:UnspecifiedMatching +OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:20493 semapv:UnspecifiedMatching +OMIM:615671 SETD3 skos:exactMatch hgnc.symbol:SETD3 semapv:UnspecifiedMatching OMIM:615671 SETD3 skos:exactMatch ncbigene:84193 semapv:UnspecifiedMatching -OMIM:615672 MIR497 skos:exactMatch hgnc:MIR497 semapv:UnspecifiedMatching +OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:32088 semapv:UnspecifiedMatching +OMIM:615672 MIR497 skos:exactMatch hgnc.symbol:MIR497 semapv:UnspecifiedMatching OMIM:615672 MIR497 skos:exactMatch ncbigene:574456 semapv:UnspecifiedMatching +OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching -OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch orphanet.ordo:401768 semapv:UnspecifiedMatching -OMIM:615675 MIR301A skos:exactMatch hgnc:MIR301A semapv:UnspecifiedMatching +OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:31622 semapv:UnspecifiedMatching +OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:MIR301A semapv:UnspecifiedMatching OMIM:615675 MIR301A skos:exactMatch ncbigene:407027 semapv:UnspecifiedMatching -OMIM:615676 TDRG1 skos:exactMatch hgnc:TDRG1 semapv:UnspecifiedMatching +OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:43642 semapv:UnspecifiedMatching +OMIM:615676 TDRG1 skos:exactMatch hgnc.symbol:TDRG1 semapv:UnspecifiedMatching OMIM:615676 TDRG1 skos:exactMatch ncbigene:732253 semapv:UnspecifiedMatching -OMIM:615677 SERPINA9 skos:exactMatch hgnc:SERPINA9 semapv:UnspecifiedMatching +OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:15995 semapv:UnspecifiedMatching +OMIM:615677 SERPINA9 skos:exactMatch hgnc.symbol:SERPINA9 semapv:UnspecifiedMatching OMIM:615677 SERPINA9 skos:exactMatch ncbigene:327657 semapv:UnspecifiedMatching -OMIM:615678 SH3BGRL2 skos:exactMatch hgnc:SH3BGRL2 semapv:UnspecifiedMatching +OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:15567 semapv:UnspecifiedMatching +OMIM:615678 SH3BGRL2 skos:exactMatch hgnc.symbol:SH3BGRL2 semapv:UnspecifiedMatching OMIM:615678 SH3BGRL2 skos:exactMatch ncbigene:83699 semapv:UnspecifiedMatching -OMIM:615679 SH3BGRL3 skos:exactMatch hgnc:SH3BGRL3 semapv:UnspecifiedMatching +OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:15568 semapv:UnspecifiedMatching +OMIM:615679 SH3BGRL3 skos:exactMatch hgnc.symbol:SH3BGRL3 semapv:UnspecifiedMatching OMIM:615679 SH3BGRL3 skos:exactMatch ncbigene:83442 semapv:UnspecifiedMatching -OMIM:615680 CARD16 skos:exactMatch hgnc:CARD16 semapv:UnspecifiedMatching +OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:33701 semapv:UnspecifiedMatching +OMIM:615680 CARD16 skos:exactMatch hgnc.symbol:CARD16 semapv:UnspecifiedMatching OMIM:615680 CARD16 skos:exactMatch ncbigene:114769 semapv:UnspecifiedMatching -OMIM:615682 SERPINB11 skos:exactMatch hgnc:SERPINB11 semapv:UnspecifiedMatching +OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:14221 semapv:UnspecifiedMatching +OMIM:615682 SERPINB11 skos:exactMatch hgnc.symbol:SERPINB11 semapv:UnspecifiedMatching OMIM:615682 SERPINB11 skos:exactMatch ncbigene:89778 semapv:UnspecifiedMatching -OMIM:615684 HFM1 skos:exactMatch hgnc:HFM1 semapv:UnspecifiedMatching +OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:20193 semapv:UnspecifiedMatching +OMIM:615684 HFM1 skos:exactMatch hgnc.symbol:HFM1 semapv:UnspecifiedMatching OMIM:615684 HFM1 skos:exactMatch ncbigene:164045 semapv:UnspecifiedMatching -OMIM:615687 BECN2 skos:exactMatch hgnc:BECN2 semapv:UnspecifiedMatching +OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:38606 semapv:UnspecifiedMatching +OMIM:615687 BECN2 skos:exactMatch hgnc.symbol:BECN2 semapv:UnspecifiedMatching OMIM:615687 BECN2 skos:exactMatch ncbigene:441925 semapv:UnspecifiedMatching -OMIM:615689 AMIGO1 skos:exactMatch hgnc:AMIGO1 semapv:UnspecifiedMatching +OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:20824 semapv:UnspecifiedMatching +OMIM:615689 AMIGO1 skos:exactMatch hgnc.symbol:AMIGO1 semapv:UnspecifiedMatching OMIM:615689 AMIGO1 skos:exactMatch ncbigene:57463 semapv:UnspecifiedMatching -OMIM:615690 AMIGO2 skos:exactMatch hgnc:AMIGO2 semapv:UnspecifiedMatching +OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:24073 semapv:UnspecifiedMatching +OMIM:615690 AMIGO2 skos:exactMatch hgnc.symbol:AMIGO2 semapv:UnspecifiedMatching OMIM:615690 AMIGO2 skos:exactMatch ncbigene:347902 semapv:UnspecifiedMatching -OMIM:615691 AMIGO3 skos:exactMatch hgnc:AMIGO3 semapv:UnspecifiedMatching +OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:24075 semapv:UnspecifiedMatching +OMIM:615691 AMIGO3 skos:exactMatch hgnc.symbol:AMIGO3 semapv:UnspecifiedMatching OMIM:615691 AMIGO3 skos:exactMatch ncbigene:386724 semapv:UnspecifiedMatching -OMIM:615692 CHID1 skos:exactMatch hgnc:CHID1 semapv:UnspecifiedMatching +OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:28474 semapv:UnspecifiedMatching +OMIM:615692 CHID1 skos:exactMatch hgnc.symbol:CHID1 semapv:UnspecifiedMatching OMIM:615692 CHID1 skos:exactMatch ncbigene:66005 semapv:UnspecifiedMatching -OMIM:615693 COLCA1 skos:exactMatch hgnc:COLCA1 semapv:UnspecifiedMatching +OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:33789 semapv:UnspecifiedMatching +OMIM:615693 COLCA1 skos:exactMatch hgnc.symbol:COLCA1 semapv:UnspecifiedMatching OMIM:615693 COLCA1 skos:exactMatch ncbigene:399948 semapv:UnspecifiedMatching -OMIM:615694 COLCA2 skos:exactMatch hgnc:POU2AF3 semapv:UnspecifiedMatching -OMIM:615694 COLCA2 skos:exactMatch ncbigene:120376 semapv:UnspecifiedMatching -OMIM:615695 HEXIM2 skos:exactMatch hgnc:HEXIM2 semapv:UnspecifiedMatching +OMIM:615694 POU2AF3 skos:exactMatch hgnc.symbol:POU2AF3 semapv:UnspecifiedMatching +OMIM:615694 POU2AF3 skos:exactMatch ncbigene:120376 semapv:UnspecifiedMatching +OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:28591 semapv:UnspecifiedMatching +OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:HEXIM2 semapv:UnspecifiedMatching OMIM:615695 HEXIM2 skos:exactMatch ncbigene:124790 semapv:UnspecifiedMatching -OMIM:615698 PLD3 skos:exactMatch hgnc:PLD3 semapv:UnspecifiedMatching +OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:17158 semapv:UnspecifiedMatching +OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:PLD3 semapv:UnspecifiedMatching OMIM:615698 PLD3 skos:exactMatch ncbigene:23646 semapv:UnspecifiedMatching -OMIM:615699 ZFTA skos:exactMatch hgnc:ZFTA semapv:UnspecifiedMatching +OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:28449 semapv:UnspecifiedMatching +OMIM:615699 ZFTA skos:exactMatch hgnc.symbol:ZFTA semapv:UnspecifiedMatching OMIM:615699 ZFTA skos:exactMatch ncbigene:65998 semapv:UnspecifiedMatching -OMIM:615700 PYDC1 skos:exactMatch hgnc:PYDC1 semapv:UnspecifiedMatching +OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:30261 semapv:UnspecifiedMatching +OMIM:615700 PYDC1 skos:exactMatch hgnc.symbol:PYDC1 semapv:UnspecifiedMatching OMIM:615700 PYDC1 skos:exactMatch ncbigene:260434 semapv:UnspecifiedMatching -OMIM:615701 PYDC2 skos:exactMatch hgnc:PYDC2 semapv:UnspecifiedMatching +OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:33512 semapv:UnspecifiedMatching +OMIM:615701 PYDC2 skos:exactMatch hgnc.symbol:PYDC2 semapv:UnspecifiedMatching OMIM:615701 PYDC2 skos:exactMatch ncbigene:152138 semapv:UnspecifiedMatching -OMIM:615702 OR5AN1 skos:exactMatch hgnc:OR5AN1 semapv:UnspecifiedMatching +OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:15255 semapv:UnspecifiedMatching +OMIM:615702 OR5AN1 skos:exactMatch hgnc.symbol:OR5AN1 semapv:UnspecifiedMatching OMIM:615702 OR5AN1 skos:exactMatch ncbigene:390195 semapv:UnspecifiedMatching +OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch Orphanet:404499 semapv:UnspecifiedMatching OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch UMLS:C3810326 semapv:UnspecifiedMatching -OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 skos:exactMatch orphanet.ordo:404499 semapv:UnspecifiedMatching +OMIM:615707 immunodeficiency 20 skos:exactMatch Orphanet:437552 semapv:UnspecifiedMatching OMIM:615707 immunodeficiency 20 skos:exactMatch UMLS:C3810342 semapv:UnspecifiedMatching -OMIM:615707 immunodeficiency 20 skos:exactMatch orphanet.ordo:437552 semapv:UnspecifiedMatching -OMIM:615708 ZNF451 skos:exactMatch hgnc:ZNF451 semapv:UnspecifiedMatching +OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:21091 semapv:UnspecifiedMatching +OMIM:615708 ZNF451 skos:exactMatch hgnc.symbol:ZNF451 semapv:UnspecifiedMatching OMIM:615708 ZNF451 skos:exactMatch ncbigene:26036 semapv:UnspecifiedMatching +OMIM:615710 mitchell-riley syndrome skos:exactMatch Orphanet:293864 semapv:UnspecifiedMatching OMIM:615710 mitchell-riley syndrome skos:exactMatch UMLS:C2748662 semapv:UnspecifiedMatching -OMIM:615710 mitchell-riley syndrome skos:exactMatch orphanet.ordo:293864 semapv:UnspecifiedMatching -OMIM:615712 OTULIN skos:exactMatch hgnc:OTULIN semapv:UnspecifiedMatching +OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:25118 semapv:UnspecifiedMatching +OMIM:615712 OTULIN skos:exactMatch hgnc.symbol:OTULIN semapv:UnspecifiedMatching OMIM:615712 OTULIN skos:exactMatch ncbigene:90268 semapv:UnspecifiedMatching -OMIM:615713 ZMYND8 skos:exactMatch hgnc:ZMYND8 semapv:UnspecifiedMatching +OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:9397 semapv:UnspecifiedMatching +OMIM:615713 ZMYND8 skos:exactMatch hgnc.symbol:ZMYND8 semapv:UnspecifiedMatching OMIM:615713 ZMYND8 skos:exactMatch ncbigene:23613 semapv:UnspecifiedMatching OMIM:615714 POLR1HASP skos:exactMatch UMLS:C1422276 semapv:UnspecifiedMatching -OMIM:615714 POLR1HASP skos:exactMatch hgnc:POLR1HASP semapv:UnspecifiedMatching +OMIM:615714 POLR1HASP skos:exactMatch hgnc.symbol:POLR1HASP semapv:UnspecifiedMatching OMIM:615714 POLR1HASP skos:exactMatch ncbigene:80862 semapv:UnspecifiedMatching +OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch UMLS:C3810354 semapv:UnspecifiedMatching -OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch orphanet.ordo:247262 semapv:UnspecifiedMatching -OMIM:615717 BPIFB3 skos:exactMatch hgnc:BPIFB3 semapv:UnspecifiedMatching +OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:16178 semapv:UnspecifiedMatching +OMIM:615717 BPIFB3 skos:exactMatch hgnc.symbol:BPIFB3 semapv:UnspecifiedMatching OMIM:615717 BPIFB3 skos:exactMatch ncbigene:359710 semapv:UnspecifiedMatching -OMIM:615718 BPIFB4 skos:exactMatch hgnc:BPIFB4 semapv:UnspecifiedMatching +OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:16179 semapv:UnspecifiedMatching +OMIM:615718 BPIFB4 skos:exactMatch hgnc.symbol:BPIFB4 semapv:UnspecifiedMatching OMIM:615718 BPIFB4 skos:exactMatch ncbigene:149954 semapv:UnspecifiedMatching -OMIM:615719 TUNAR skos:exactMatch hgnc:TUNAR semapv:UnspecifiedMatching +OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:44088 semapv:UnspecifiedMatching +OMIM:615719 TUNAR skos:exactMatch hgnc.symbol:TUNAR semapv:UnspecifiedMatching OMIM:615719 TUNAR skos:exactMatch ncbigene:100507043 semapv:UnspecifiedMatching -OMIM:615720 SLC7A14 skos:exactMatch hgnc:SLC7A14 semapv:UnspecifiedMatching +OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:29326 semapv:UnspecifiedMatching +OMIM:615720 SLC7A14 skos:exactMatch hgnc.symbol:SLC7A14 semapv:UnspecifiedMatching OMIM:615720 SLC7A14 skos:exactMatch ncbigene:57709 semapv:UnspecifiedMatching +OMIM:615726 pachyonychia congenita 3 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching OMIM:615726 pachyonychia congenita 3 skos:exactMatch UMLS:C3714948 semapv:UnspecifiedMatching -OMIM:615726 pachyonychia congenita 3 skos:exactMatch orphanet.ordo:2309 semapv:UnspecifiedMatching -OMIM:615727 KIR2DL5B skos:exactMatch hgnc:KIR2DL5B semapv:UnspecifiedMatching +OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:16346 semapv:UnspecifiedMatching +OMIM:615727 KIR2DL5B skos:exactMatch hgnc.symbol:KIR2DL5B semapv:UnspecifiedMatching OMIM:615727 KIR2DL5B skos:exactMatch ncbigene:553128 semapv:UnspecifiedMatching +OMIM:615728 pachyonychia congenita 4 skos:exactMatch Orphanet:2309 semapv:UnspecifiedMatching OMIM:615728 pachyonychia congenita 4 skos:exactMatch UMLS:C3714949 semapv:UnspecifiedMatching -OMIM:615728 pachyonychia congenita 4 skos:exactMatch orphanet.ordo:2309 semapv:UnspecifiedMatching -OMIM:615729 SBNO2 skos:exactMatch hgnc:SBNO2 semapv:UnspecifiedMatching +OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:29158 semapv:UnspecifiedMatching +OMIM:615729 SBNO2 skos:exactMatch hgnc.symbol:SBNO2 semapv:UnspecifiedMatching OMIM:615729 SBNO2 skos:exactMatch ncbigene:22904 semapv:UnspecifiedMatching OMIM:615730 DOCK7 skos:exactMatch UMLS:C1426078 semapv:UnspecifiedMatching OMIM:615730 DOCK7 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching -OMIM:615730 DOCK7 skos:exactMatch hgnc:DOCK7 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:19190 semapv:UnspecifiedMatching +OMIM:615730 DOCK7 skos:exactMatch hgnc.symbol:DOCK7 semapv:UnspecifiedMatching OMIM:615730 DOCK7 skos:exactMatch ncbigene:85440 semapv:UnspecifiedMatching -OMIM:615732 NSUN5 skos:exactMatch hgnc:NSUN5 semapv:UnspecifiedMatching +OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:16385 semapv:UnspecifiedMatching +OMIM:615732 NSUN5 skos:exactMatch hgnc.symbol:NSUN5 semapv:UnspecifiedMatching OMIM:615732 NSUN5 skos:exactMatch ncbigene:55695 semapv:UnspecifiedMatching -OMIM:615733 BUD23 skos:exactMatch hgnc:BUD23 semapv:UnspecifiedMatching +OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:16405 semapv:UnspecifiedMatching +OMIM:615733 BUD23 skos:exactMatch hgnc.symbol:BUD23 semapv:UnspecifiedMatching OMIM:615733 BUD23 skos:exactMatch ncbigene:114049 semapv:UnspecifiedMatching -OMIM:615734 WDR47 skos:exactMatch hgnc:WDR47 semapv:UnspecifiedMatching +OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:29141 semapv:UnspecifiedMatching +OMIM:615734 WDR47 skos:exactMatch hgnc.symbol:WDR47 semapv:UnspecifiedMatching OMIM:615734 WDR47 skos:exactMatch ncbigene:22911 semapv:UnspecifiedMatching -OMIM:615736 ECSCR skos:exactMatch hgnc:ECSCR semapv:UnspecifiedMatching +OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:35454 semapv:UnspecifiedMatching +OMIM:615736 ECSCR skos:exactMatch hgnc.symbol:ECSCR semapv:UnspecifiedMatching OMIM:615736 ECSCR skos:exactMatch ncbigene:641700 semapv:UnspecifiedMatching OMIM:615737 IZUMO1R skos:exactMatch UMLS:C2681534 semapv:UnspecifiedMatching -OMIM:615737 IZUMO1R skos:exactMatch hgnc:IZUMO1R semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:32565 semapv:UnspecifiedMatching +OMIM:615737 IZUMO1R skos:exactMatch hgnc.symbol:IZUMO1R semapv:UnspecifiedMatching OMIM:615737 IZUMO1R skos:exactMatch ncbigene:390243 semapv:UnspecifiedMatching -OMIM:615738 VPS51 skos:exactMatch hgnc:VPS51 semapv:UnspecifiedMatching +OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:1172 semapv:UnspecifiedMatching +OMIM:615738 VPS51 skos:exactMatch hgnc.symbol:VPS51 semapv:UnspecifiedMatching OMIM:615738 VPS51 skos:exactMatch ncbigene:738 semapv:UnspecifiedMatching -OMIM:615739 POU5F1B skos:exactMatch hgnc:POU5F1B semapv:UnspecifiedMatching +OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:9223 semapv:UnspecifiedMatching +OMIM:615739 POU5F1B skos:exactMatch hgnc.symbol:POU5F1B semapv:UnspecifiedMatching OMIM:615739 POU5F1B skos:exactMatch ncbigene:5462 semapv:UnspecifiedMatching -OMIM:615740 TBC1D5 skos:exactMatch hgnc:TBC1D5 semapv:UnspecifiedMatching +OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:19166 semapv:UnspecifiedMatching +OMIM:615740 TBC1D5 skos:exactMatch hgnc.symbol:TBC1D5 semapv:UnspecifiedMatching OMIM:615740 TBC1D5 skos:exactMatch ncbigene:9779 semapv:UnspecifiedMatching OMIM:615741 DELE1 skos:exactMatch UMLS:C1537445 semapv:UnspecifiedMatching -OMIM:615741 DELE1 skos:exactMatch hgnc:DELE1 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:28969 semapv:UnspecifiedMatching +OMIM:615741 DELE1 skos:exactMatch hgnc.symbol:DELE1 semapv:UnspecifiedMatching OMIM:615741 DELE1 skos:exactMatch ncbigene:9812 semapv:UnspecifiedMatching -OMIM:615742 RGP1 skos:exactMatch hgnc:RGP1 semapv:UnspecifiedMatching +OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:21965 semapv:UnspecifiedMatching +OMIM:615742 RGP1 skos:exactMatch hgnc.symbol:RGP1 semapv:UnspecifiedMatching OMIM:615742 RGP1 skos:exactMatch ncbigene:9827 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch UMLS:C1822689 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch UMLS:C3810406 semapv:UnspecifiedMatching -OMIM:615743 SETD5 skos:exactMatch hgnc:SETD5 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:25566 semapv:UnspecifiedMatching +OMIM:615743 SETD5 skos:exactMatch hgnc.symbol:SETD5 semapv:UnspecifiedMatching OMIM:615743 SETD5 skos:exactMatch ncbigene:55209 semapv:UnspecifiedMatching +OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch UMLS:C3810400 semapv:UnspecifiedMatching -OMIM:615744 developmental and epileptic encephalopathy 19 skos:exactMatch orphanet.ordo:33069 semapv:UnspecifiedMatching -OMIM:615746 ZXDC skos:exactMatch hgnc:ZXDC semapv:UnspecifiedMatching +OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:28160 semapv:UnspecifiedMatching +OMIM:615746 ZXDC skos:exactMatch hgnc.symbol:ZXDC semapv:UnspecifiedMatching OMIM:615746 ZXDC skos:exactMatch ncbigene:79364 semapv:UnspecifiedMatching -OMIM:615747 CEACAM8 skos:exactMatch hgnc:CEACAM8 semapv:UnspecifiedMatching +OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:1820 semapv:UnspecifiedMatching +OMIM:615747 CEACAM8 skos:exactMatch hgnc.symbol:CEACAM8 semapv:UnspecifiedMatching OMIM:615747 CEACAM8 skos:exactMatch ncbigene:1088 semapv:UnspecifiedMatching -OMIM:615748 WASHC4 skos:exactMatch hgnc:WASHC4 semapv:UnspecifiedMatching +OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:29174 semapv:UnspecifiedMatching +OMIM:615748 WASHC4 skos:exactMatch hgnc.symbol:WASHC4 semapv:UnspecifiedMatching OMIM:615748 WASHC4 skos:exactMatch ncbigene:23325 semapv:UnspecifiedMatching -OMIM:615753 POM121 skos:exactMatch hgnc:POM121 semapv:UnspecifiedMatching +OMIM:615753 POM121 skos:exactMatch hgnc.symbol:19702 semapv:UnspecifiedMatching +OMIM:615753 POM121 skos:exactMatch hgnc.symbol:POM121 semapv:UnspecifiedMatching OMIM:615753 POM121 skos:exactMatch ncbigene:9883 semapv:UnspecifiedMatching -OMIM:615754 POM121C skos:exactMatch hgnc:POM121C semapv:UnspecifiedMatching +OMIM:615754 POM121C skos:exactMatch hgnc.symbol:34005 semapv:UnspecifiedMatching +OMIM:615754 POM121C skos:exactMatch hgnc.symbol:POM121C semapv:UnspecifiedMatching OMIM:615754 POM121C skos:exactMatch ncbigene:100101267 semapv:UnspecifiedMatching -OMIM:615755 FOXR1 skos:exactMatch hgnc:FOXR1 semapv:UnspecifiedMatching +OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:29980 semapv:UnspecifiedMatching +OMIM:615755 FOXR1 skos:exactMatch hgnc.symbol:FOXR1 semapv:UnspecifiedMatching OMIM:615755 FOXR1 skos:exactMatch ncbigene:283150 semapv:UnspecifiedMatching -OMIM:615756 SECISBP2L skos:exactMatch hgnc:SECISBP2L semapv:UnspecifiedMatching +OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:28997 semapv:UnspecifiedMatching +OMIM:615756 SECISBP2L skos:exactMatch hgnc.symbol:SECISBP2L semapv:UnspecifiedMatching OMIM:615756 SECISBP2L skos:exactMatch ncbigene:9728 semapv:UnspecifiedMatching -OMIM:615757 KIZ skos:exactMatch hgnc:KIZ semapv:UnspecifiedMatching +OMIM:615757 KIZ skos:exactMatch hgnc.symbol:15865 semapv:UnspecifiedMatching +OMIM:615757 KIZ skos:exactMatch hgnc.symbol:KIZ semapv:UnspecifiedMatching OMIM:615757 KIZ skos:exactMatch ncbigene:55857 semapv:UnspecifiedMatching -OMIM:615759 KIDINS220 skos:exactMatch hgnc:KIDINS220 semapv:UnspecifiedMatching +OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:29508 semapv:UnspecifiedMatching +OMIM:615759 KIDINS220 skos:exactMatch hgnc.symbol:KIDINS220 semapv:UnspecifiedMatching OMIM:615759 KIDINS220 skos:exactMatch ncbigene:57498 semapv:UnspecifiedMatching -OMIM:615762 GRXCR2 skos:exactMatch hgnc:GRXCR2 semapv:UnspecifiedMatching +OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:33862 semapv:UnspecifiedMatching +OMIM:615762 GRXCR2 skos:exactMatch hgnc.symbol:GRXCR2 semapv:UnspecifiedMatching OMIM:615762 GRXCR2 skos:exactMatch ncbigene:643226 semapv:UnspecifiedMatching -OMIM:615764 LSINCT5 skos:exactMatch hgnc:LSINCT5 semapv:UnspecifiedMatching +OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:37824 semapv:UnspecifiedMatching +OMIM:615764 LSINCT5 skos:exactMatch hgnc.symbol:LSINCT5 semapv:UnspecifiedMatching OMIM:615764 LSINCT5 skos:exactMatch ncbigene:101234261 semapv:UnspecifiedMatching -OMIM:615765 SLC16A11 skos:exactMatch hgnc:SLC16A11 semapv:UnspecifiedMatching +OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:23093 semapv:UnspecifiedMatching +OMIM:615765 SLC16A11 skos:exactMatch hgnc.symbol:SLC16A11 semapv:UnspecifiedMatching OMIM:615765 SLC16A11 skos:exactMatch ncbigene:162515 semapv:UnspecifiedMatching -OMIM:615766 MTCL1 skos:exactMatch hgnc:MTCL1 semapv:UnspecifiedMatching +OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:29121 semapv:UnspecifiedMatching +OMIM:615766 MTCL1 skos:exactMatch hgnc.symbol:MTCL1 semapv:UnspecifiedMatching OMIM:615766 MTCL1 skos:exactMatch ncbigene:23255 semapv:UnspecifiedMatching +OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch Orphanet:412057 semapv:UnspecifiedMatching OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch UMLS:C4014261 semapv:UnspecifiedMatching -OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 skos:exactMatch orphanet.ordo:412057 semapv:UnspecifiedMatching -OMIM:615769 FAM169A skos:exactMatch hgnc:FAM169A semapv:UnspecifiedMatching +OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:29138 semapv:UnspecifiedMatching +OMIM:615769 FAM169A skos:exactMatch hgnc.symbol:FAM169A semapv:UnspecifiedMatching OMIM:615769 FAM169A skos:exactMatch ncbigene:26049 semapv:UnspecifiedMatching OMIM:615772 WFDC21P skos:exactMatch UMLS:C3891272 semapv:UnspecifiedMatching -OMIM:615772 WFDC21P skos:exactMatch hgnc:WFDC21P semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:50357 semapv:UnspecifiedMatching +OMIM:615772 WFDC21P skos:exactMatch hgnc.symbol:WFDC21P semapv:UnspecifiedMatching OMIM:615772 WFDC21P skos:exactMatch ncbigene:645638 semapv:UnspecifiedMatching OMIM:615773 SDHAF3 skos:exactMatch UMLS:C1427742 semapv:UnspecifiedMatching -OMIM:615773 SDHAF3 skos:exactMatch hgnc:SDHAF3 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:21752 semapv:UnspecifiedMatching +OMIM:615773 SDHAF3 skos:exactMatch hgnc.symbol:SDHAF3 semapv:UnspecifiedMatching OMIM:615773 SDHAF3 skos:exactMatch ncbigene:57001 semapv:UnspecifiedMatching +OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch Orphanet:404466 semapv:UnspecifiedMatching OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch UMLS:C4014291 semapv:UnspecifiedMatching -OMIM:615774 oocyte/zygote/embryo maturation arrest 1 skos:exactMatch orphanet.ordo:404466 semapv:UnspecifiedMatching -OMIM:615775 SYCE3 skos:exactMatch hgnc:SYCE3 semapv:UnspecifiedMatching +OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:35245 semapv:UnspecifiedMatching +OMIM:615775 SYCE3 skos:exactMatch hgnc.symbol:SYCE3 semapv:UnspecifiedMatching OMIM:615775 SYCE3 skos:exactMatch ncbigene:644186 semapv:UnspecifiedMatching -OMIM:615776 CROCC skos:exactMatch hgnc:CROCC semapv:UnspecifiedMatching +OMIM:615776 CROCC skos:exactMatch hgnc.symbol:21299 semapv:UnspecifiedMatching +OMIM:615776 CROCC skos:exactMatch hgnc.symbol:CROCC semapv:UnspecifiedMatching OMIM:615776 CROCC skos:exactMatch ncbigene:9696 semapv:UnspecifiedMatching +OMIM:615777 desbuquois dysplasia 2 skos:exactMatch Orphanet:1425 semapv:UnspecifiedMatching OMIM:615777 desbuquois dysplasia 2 skos:exactMatch UMLS:C4014294 semapv:UnspecifiedMatching -OMIM:615777 desbuquois dysplasia 2 skos:exactMatch orphanet.ordo:1425 semapv:UnspecifiedMatching -OMIM:615778 CLDN15 skos:exactMatch hgnc:CLDN15 semapv:UnspecifiedMatching +OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:2036 semapv:UnspecifiedMatching +OMIM:615778 CLDN15 skos:exactMatch hgnc.symbol:CLDN15 semapv:UnspecifiedMatching OMIM:615778 CLDN15 skos:exactMatch ncbigene:24146 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:98722 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99067 semapv:UnspecifiedMatching +OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch Orphanet:99068 semapv:UnspecifiedMatching OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch UMLS:C4014310 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch orphanet.ordo:98722 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch orphanet.ordo:99067 semapv:UnspecifiedMatching -OMIM:615779 congenital heart defects, multiple types, 4 skos:exactMatch orphanet.ordo:99068 semapv:UnspecifiedMatching OMIM:615781 AP1S3 skos:exactMatch UMLS:C1425929 semapv:UnspecifiedMatching OMIM:615781 AP1S3 skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching -OMIM:615781 AP1S3 skos:exactMatch hgnc:AP1S3 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:18971 semapv:UnspecifiedMatching +OMIM:615781 AP1S3 skos:exactMatch hgnc.symbol:AP1S3 semapv:UnspecifiedMatching OMIM:615781 AP1S3 skos:exactMatch ncbigene:130340 semapv:UnspecifiedMatching -OMIM:615782 CIART skos:exactMatch hgnc:CIART semapv:UnspecifiedMatching +OMIM:615782 CIART skos:exactMatch hgnc.symbol:25200 semapv:UnspecifiedMatching +OMIM:615782 CIART skos:exactMatch hgnc.symbol:CIART semapv:UnspecifiedMatching OMIM:615782 CIART skos:exactMatch ncbigene:148523 semapv:UnspecifiedMatching -OMIM:615783 NAT16 skos:exactMatch hgnc:NAT16 semapv:UnspecifiedMatching +OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:22030 semapv:UnspecifiedMatching +OMIM:615783 NAT16 skos:exactMatch hgnc.symbol:NAT16 semapv:UnspecifiedMatching OMIM:615783 NAT16 skos:exactMatch ncbigene:375607 semapv:UnspecifiedMatching -OMIM:615784 GPX7 skos:exactMatch hgnc:GPX7 semapv:UnspecifiedMatching +OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:4559 semapv:UnspecifiedMatching +OMIM:615784 GPX7 skos:exactMatch hgnc.symbol:GPX7 semapv:UnspecifiedMatching OMIM:615784 GPX7 skos:exactMatch ncbigene:2882 semapv:UnspecifiedMatching +OMIM:615785 white sponge nevus 2 skos:exactMatch Orphanet:171723 semapv:UnspecifiedMatching OMIM:615785 white sponge nevus 2 skos:exactMatch UMLS:C4014321 semapv:UnspecifiedMatching -OMIM:615785 white sponge nevus 2 skos:exactMatch orphanet.ordo:171723 semapv:UnspecifiedMatching -OMIM:615786 NACC2 skos:exactMatch hgnc:NACC2 semapv:UnspecifiedMatching +OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:23846 semapv:UnspecifiedMatching +OMIM:615786 NACC2 skos:exactMatch hgnc.symbol:NACC2 semapv:UnspecifiedMatching OMIM:615786 NACC2 skos:exactMatch ncbigene:138151 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch UMLS:C1857252 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch UMLS:C3471268 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch UMLS:C5394591 semapv:UnspecifiedMatching -OMIM:615787 NADK2 skos:exactMatch hgnc:NADK2 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:26404 semapv:UnspecifiedMatching +OMIM:615787 NADK2 skos:exactMatch hgnc.symbol:NADK2 semapv:UnspecifiedMatching OMIM:615787 NADK2 skos:exactMatch ncbigene:133686 semapv:UnspecifiedMatching -OMIM:615788 N4BP2L2 skos:exactMatch hgnc:N4BP2L2 semapv:UnspecifiedMatching +OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:26916 semapv:UnspecifiedMatching +OMIM:615788 N4BP2L2 skos:exactMatch hgnc.symbol:N4BP2L2 semapv:UnspecifiedMatching OMIM:615788 N4BP2L2 skos:exactMatch ncbigene:10443 semapv:UnspecifiedMatching OMIM:615790 AHDC1 skos:exactMatch UMLS:C1826617 semapv:UnspecifiedMatching OMIM:615790 AHDC1 skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching -OMIM:615790 AHDC1 skos:exactMatch hgnc:AHDC1 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:25230 semapv:UnspecifiedMatching +OMIM:615790 AHDC1 skos:exactMatch hgnc.symbol:AHDC1 semapv:UnspecifiedMatching OMIM:615790 AHDC1 skos:exactMatch ncbigene:27245 semapv:UnspecifiedMatching -OMIM:615791 NUDT18 skos:exactMatch hgnc:NUDT18 semapv:UnspecifiedMatching +OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:26194 semapv:UnspecifiedMatching +OMIM:615791 NUDT18 skos:exactMatch hgnc.symbol:NUDT18 semapv:UnspecifiedMatching OMIM:615791 NUDT18 skos:exactMatch ncbigene:79873 semapv:UnspecifiedMatching -OMIM:615792 NUDT15 skos:exactMatch hgnc:NUDT15 semapv:UnspecifiedMatching +OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:23063 semapv:UnspecifiedMatching +OMIM:615792 NUDT15 skos:exactMatch hgnc.symbol:NUDT15 semapv:UnspecifiedMatching OMIM:615792 NUDT15 skos:exactMatch ncbigene:55270 semapv:UnspecifiedMatching -OMIM:615793 ISM1 skos:exactMatch hgnc:ISM1 semapv:UnspecifiedMatching +OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:16213 semapv:UnspecifiedMatching +OMIM:615793 ISM1 skos:exactMatch hgnc.symbol:ISM1 semapv:UnspecifiedMatching OMIM:615793 ISM1 skos:exactMatch ncbigene:140862 semapv:UnspecifiedMatching -OMIM:615794 FNDC3A skos:exactMatch hgnc:FNDC3A semapv:UnspecifiedMatching +OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:20296 semapv:UnspecifiedMatching +OMIM:615794 FNDC3A skos:exactMatch hgnc.symbol:FNDC3A semapv:UnspecifiedMatching OMIM:615794 FNDC3A skos:exactMatch ncbigene:22862 semapv:UnspecifiedMatching -OMIM:615795 FSIP1 skos:exactMatch hgnc:FSIP1 semapv:UnspecifiedMatching +OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:21674 semapv:UnspecifiedMatching +OMIM:615795 FSIP1 skos:exactMatch hgnc.symbol:FSIP1 semapv:UnspecifiedMatching OMIM:615795 FSIP1 skos:exactMatch ncbigene:161835 semapv:UnspecifiedMatching -OMIM:615796 FSIP2 skos:exactMatch hgnc:FSIP2 semapv:UnspecifiedMatching +OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:21675 semapv:UnspecifiedMatching +OMIM:615796 FSIP2 skos:exactMatch hgnc.symbol:FSIP2 semapv:UnspecifiedMatching OMIM:615796 FSIP2 skos:exactMatch ncbigene:401024 semapv:UnspecifiedMatching -OMIM:615797 HCG9 skos:exactMatch hgnc:HCG9 semapv:UnspecifiedMatching +OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:21243 semapv:UnspecifiedMatching +OMIM:615797 HCG9 skos:exactMatch hgnc.symbol:HCG9 semapv:UnspecifiedMatching OMIM:615797 HCG9 skos:exactMatch ncbigene:10255 semapv:UnspecifiedMatching -OMIM:615798 CLDN6 skos:exactMatch hgnc:CLDN6 semapv:UnspecifiedMatching +OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:2048 semapv:UnspecifiedMatching +OMIM:615798 CLDN6 skos:exactMatch hgnc.symbol:CLDN6 semapv:UnspecifiedMatching OMIM:615798 CLDN6 skos:exactMatch ncbigene:9074 semapv:UnspecifiedMatching OMIM:615799 CLDN9 skos:exactMatch UMLS:C1413479 semapv:UnspecifiedMatching OMIM:615799 CLDN9 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching -OMIM:615799 CLDN9 skos:exactMatch hgnc:CLDN9 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:2051 semapv:UnspecifiedMatching +OMIM:615799 CLDN9 skos:exactMatch hgnc.symbol:CLDN9 semapv:UnspecifiedMatching OMIM:615799 CLDN9 skos:exactMatch ncbigene:9080 semapv:UnspecifiedMatching -OMIM:615800 FSCN3 skos:exactMatch hgnc:FSCN3 semapv:UnspecifiedMatching +OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:3961 semapv:UnspecifiedMatching +OMIM:615800 FSCN3 skos:exactMatch hgnc.symbol:FSCN3 semapv:UnspecifiedMatching OMIM:615800 FSCN3 skos:exactMatch ncbigene:29999 semapv:UnspecifiedMatching -OMIM:615804 URAD skos:exactMatch hgnc:URAD semapv:UnspecifiedMatching +OMIM:615804 URAD skos:exactMatch hgnc.symbol:17785 semapv:UnspecifiedMatching +OMIM:615804 URAD skos:exactMatch hgnc.symbol:URAD semapv:UnspecifiedMatching OMIM:615804 URAD skos:exactMatch ncbigene:646625 semapv:UnspecifiedMatching -OMIM:615805 URAHP skos:exactMatch hgnc:URAHP semapv:UnspecifiedMatching +OMIM:615805 URAHP skos:exactMatch hgnc.symbol:43695 semapv:UnspecifiedMatching +OMIM:615805 URAHP skos:exactMatch hgnc.symbol:URAHP semapv:UnspecifiedMatching OMIM:615805 URAHP skos:exactMatch ncbigene:100130015 semapv:UnspecifiedMatching OMIM:615806 SLC15A4 skos:exactMatch UMLS:C1427907 semapv:UnspecifiedMatching -OMIM:615806 SLC15A4 skos:exactMatch hgnc:SLC15A4 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:23090 semapv:UnspecifiedMatching +OMIM:615806 SLC15A4 skos:exactMatch hgnc.symbol:SLC15A4 semapv:UnspecifiedMatching OMIM:615806 SLC15A4 skos:exactMatch ncbigene:121260 semapv:UnspecifiedMatching -OMIM:615808 TMA7 skos:exactMatch hgnc:TMA7 semapv:UnspecifiedMatching +OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:26932 semapv:UnspecifiedMatching +OMIM:615808 TMA7 skos:exactMatch hgnc.symbol:TMA7 semapv:UnspecifiedMatching OMIM:615808 TMA7 skos:exactMatch ncbigene:51372 semapv:UnspecifiedMatching -OMIM:615810 C11ORF54 skos:exactMatch hgnc:C11orf54 semapv:UnspecifiedMatching +OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:30204 semapv:UnspecifiedMatching +OMIM:615810 C11ORF54 skos:exactMatch hgnc.symbol:C11orf54 semapv:UnspecifiedMatching OMIM:615810 C11ORF54 skos:exactMatch ncbigene:28970 semapv:UnspecifiedMatching -OMIM:615811 PPIL3 skos:exactMatch hgnc:PPIL3 semapv:UnspecifiedMatching +OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:9262 semapv:UnspecifiedMatching +OMIM:615811 PPIL3 skos:exactMatch hgnc.symbol:PPIL3 semapv:UnspecifiedMatching OMIM:615811 PPIL3 skos:exactMatch ncbigene:53938 semapv:UnspecifiedMatching -OMIM:615813 FAM193B skos:exactMatch hgnc:FAM193B semapv:UnspecifiedMatching +OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:25524 semapv:UnspecifiedMatching +OMIM:615813 FAM193B skos:exactMatch hgnc.symbol:FAM193B semapv:UnspecifiedMatching OMIM:615813 FAM193B skos:exactMatch ncbigene:54540 semapv:UnspecifiedMatching -OMIM:615814 STYX skos:exactMatch hgnc:STYX semapv:UnspecifiedMatching +OMIM:615814 STYX skos:exactMatch hgnc.symbol:11447 semapv:UnspecifiedMatching +OMIM:615814 STYX skos:exactMatch hgnc.symbol:STYX semapv:UnspecifiedMatching OMIM:615814 STYX skos:exactMatch ncbigene:6815 semapv:UnspecifiedMatching -OMIM:615815 SENCR skos:exactMatch hgnc:SENCR semapv:UnspecifiedMatching +OMIM:615815 SENCR skos:exactMatch hgnc.symbol:44177 semapv:UnspecifiedMatching +OMIM:615815 SENCR skos:exactMatch hgnc.symbol:SENCR semapv:UnspecifiedMatching OMIM:615815 SENCR skos:exactMatch ncbigene:100507392 semapv:UnspecifiedMatching +OMIM:615816 immunodeficiency 23 skos:exactMatch Orphanet:443811 semapv:UnspecifiedMatching OMIM:615816 immunodeficiency 23 skos:exactMatch UMLS:C4014371 semapv:UnspecifiedMatching -OMIM:615816 immunodeficiency 23 skos:exactMatch orphanet.ordo:443811 semapv:UnspecifiedMatching -OMIM:615818 RRP8 skos:exactMatch hgnc:RRP8 semapv:UnspecifiedMatching +OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:29030 semapv:UnspecifiedMatching +OMIM:615818 RRP8 skos:exactMatch hgnc.symbol:RRP8 semapv:UnspecifiedMatching OMIM:615818 RRP8 skos:exactMatch ncbigene:23378 semapv:UnspecifiedMatching -OMIM:615819 SULT1A4 skos:exactMatch hgnc:SULT1A4 semapv:UnspecifiedMatching +OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:30004 semapv:UnspecifiedMatching +OMIM:615819 SULT1A4 skos:exactMatch hgnc.symbol:SULT1A4 semapv:UnspecifiedMatching OMIM:615819 SULT1A4 skos:exactMatch ncbigene:445329 semapv:UnspecifiedMatching -OMIM:615820 DCAF8 skos:exactMatch hgnc:DCAF8 semapv:UnspecifiedMatching +OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:24891 semapv:UnspecifiedMatching +OMIM:615820 DCAF8 skos:exactMatch hgnc.symbol:DCAF8 semapv:UnspecifiedMatching OMIM:615820 DCAF8 skos:exactMatch ncbigene:50717 semapv:UnspecifiedMatching +OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch Orphanet:65282 semapv:UnspecifiedMatching OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch UMLS:C4014393 semapv:UnspecifiedMatching -OMIM:615821 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:exactMatch orphanet.ordo:65282 semapv:UnspecifiedMatching -OMIM:615822 SLX1A skos:exactMatch hgnc:SLX1A semapv:UnspecifiedMatching +OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:20922 semapv:UnspecifiedMatching +OMIM:615822 SLX1A skos:exactMatch hgnc.symbol:SLX1A semapv:UnspecifiedMatching OMIM:615822 SLX1A skos:exactMatch ncbigene:548593 semapv:UnspecifiedMatching -OMIM:615823 SLX1B skos:exactMatch hgnc:SLX1B semapv:UnspecifiedMatching +OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:28748 semapv:UnspecifiedMatching +OMIM:615823 SLX1B skos:exactMatch hgnc.symbol:SLX1B semapv:UnspecifiedMatching OMIM:615823 SLX1B skos:exactMatch ncbigene:79008 semapv:UnspecifiedMatching -OMIM:615825 SUSD2 skos:exactMatch hgnc:SUSD2 semapv:UnspecifiedMatching +OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:30667 semapv:UnspecifiedMatching +OMIM:615825 SUSD2 skos:exactMatch hgnc.symbol:SUSD2 semapv:UnspecifiedMatching OMIM:615825 SUSD2 skos:exactMatch ncbigene:56241 semapv:UnspecifiedMatching -OMIM:615826 STPG1 skos:exactMatch hgnc:STPG1 semapv:UnspecifiedMatching +OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:28070 semapv:UnspecifiedMatching +OMIM:615826 STPG1 skos:exactMatch hgnc.symbol:STPG1 semapv:UnspecifiedMatching OMIM:615826 STPG1 skos:exactMatch ncbigene:90529 semapv:UnspecifiedMatching -OMIM:615827 SUSD4 skos:exactMatch hgnc:SUSD4 semapv:UnspecifiedMatching +OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:25470 semapv:UnspecifiedMatching +OMIM:615827 SUSD4 skos:exactMatch hgnc.symbol:SUSD4 semapv:UnspecifiedMatching OMIM:615827 SUSD4 skos:exactMatch ncbigene:55061 semapv:UnspecifiedMatching +OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch UMLS:C4014414 semapv:UnspecifiedMatching -OMIM:615828 vulto-van silfhout-de vries syndrome skos:exactMatch orphanet.ordo:178469 semapv:UnspecifiedMatching +OMIM:615829 xia-gibbs syndrome skos:exactMatch Orphanet:412069 semapv:UnspecifiedMatching OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C4014419 semapv:UnspecifiedMatching OMIM:615829 xia-gibbs syndrome skos:exactMatch UMLS:C5436345 semapv:UnspecifiedMatching -OMIM:615829 xia-gibbs syndrome skos:exactMatch orphanet.ordo:412069 semapv:UnspecifiedMatching +OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch Orphanet:189439 semapv:UnspecifiedMatching OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch UMLS:C4014425 semapv:UnspecifiedMatching -OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch orphanet.ordo:189439 semapv:UnspecifiedMatching -OMIM:615831 LYRM7 skos:exactMatch hgnc:LYRM7 semapv:UnspecifiedMatching +OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:28072 semapv:UnspecifiedMatching +OMIM:615831 LYRM7 skos:exactMatch hgnc.symbol:LYRM7 semapv:UnspecifiedMatching OMIM:615831 LYRM7 skos:exactMatch ncbigene:90624 semapv:UnspecifiedMatching -OMIM:615832 UBE2QL1 skos:exactMatch hgnc:UBE2QL1 semapv:UnspecifiedMatching +OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:37269 semapv:UnspecifiedMatching +OMIM:615832 UBE2QL1 skos:exactMatch hgnc.symbol:UBE2QL1 semapv:UnspecifiedMatching OMIM:615832 UBE2QL1 skos:exactMatch ncbigene:134111 semapv:UnspecifiedMatching +OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch UMLS:C4014430 semapv:UnspecifiedMatching -OMIM:615833 developmental and epileptic encephalopathy 21 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:615836 STK38L skos:exactMatch hgnc:STK38L semapv:UnspecifiedMatching +OMIM:615836 STK38L skos:exactMatch hgnc.symbol:17848 semapv:UnspecifiedMatching +OMIM:615836 STK38L skos:exactMatch hgnc.symbol:STK38L semapv:UnspecifiedMatching OMIM:615836 STK38L skos:exactMatch ncbigene:23012 semapv:UnspecifiedMatching -OMIM:615839 DECR2 skos:exactMatch hgnc:DECR2 semapv:UnspecifiedMatching +OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:2754 semapv:UnspecifiedMatching +OMIM:615839 DECR2 skos:exactMatch hgnc.symbol:DECR2 semapv:UnspecifiedMatching OMIM:615839 DECR2 skos:exactMatch ncbigene:26063 semapv:UnspecifiedMatching -OMIM:615840 DCTPP1 skos:exactMatch hgnc:DCTPP1 semapv:UnspecifiedMatching +OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:28777 semapv:UnspecifiedMatching +OMIM:615840 DCTPP1 skos:exactMatch hgnc.symbol:DCTPP1 semapv:UnspecifiedMatching OMIM:615840 DCTPP1 skos:exactMatch ncbigene:79077 semapv:UnspecifiedMatching OMIM:615843 DEGS1 skos:exactMatch UMLS:C1539265 semapv:UnspecifiedMatching OMIM:615843 DEGS1 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching -OMIM:615843 DEGS1 skos:exactMatch hgnc:DEGS1 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:13709 semapv:UnspecifiedMatching +OMIM:615843 DEGS1 skos:exactMatch hgnc.symbol:DEGS1 semapv:UnspecifiedMatching OMIM:615843 DEGS1 skos:exactMatch ncbigene:8560 semapv:UnspecifiedMatching OMIM:615844 TKFC skos:exactMatch UMLS:C1824882 semapv:UnspecifiedMatching OMIM:615844 TKFC skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching -OMIM:615844 TKFC skos:exactMatch hgnc:TKFC semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch hgnc.symbol:24552 semapv:UnspecifiedMatching +OMIM:615844 TKFC skos:exactMatch hgnc.symbol:TKFC semapv:UnspecifiedMatching OMIM:615844 TKFC skos:exactMatch ncbigene:26007 semapv:UnspecifiedMatching -OMIM:615845 MIR190A skos:exactMatch hgnc:MIR190A semapv:UnspecifiedMatching +OMIM:615845 MIR190A skos:exactMatch hgnc.symbol:31560 semapv:UnspecifiedMatching +OMIM:615845 MIR190A skos:exactMatch hgnc.symbol:MIR190A semapv:UnspecifiedMatching OMIM:615845 MIR190A skos:exactMatch ncbigene:406965 semapv:UnspecifiedMatching OMIM:615847 CEP83 skos:exactMatch UMLS:C1824565 semapv:UnspecifiedMatching OMIM:615847 CEP83 skos:exactMatch UMLS:C3890591 semapv:UnspecifiedMatching -OMIM:615847 CEP83 skos:exactMatch hgnc:CEP83 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch hgnc.symbol:17966 semapv:UnspecifiedMatching +OMIM:615847 CEP83 skos:exactMatch hgnc.symbol:CEP83 semapv:UnspecifiedMatching OMIM:615847 CEP83 skos:exactMatch ncbigene:51134 semapv:UnspecifiedMatching -OMIM:615850 VPS53 skos:exactMatch hgnc:VPS53 semapv:UnspecifiedMatching +OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:25608 semapv:UnspecifiedMatching +OMIM:615850 VPS53 skos:exactMatch hgnc.symbol:VPS53 semapv:UnspecifiedMatching OMIM:615850 VPS53 skos:exactMatch ncbigene:55275 semapv:UnspecifiedMatching -OMIM:615852 RAB6B skos:exactMatch hgnc:RAB6B semapv:UnspecifiedMatching +OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:14902 semapv:UnspecifiedMatching +OMIM:615852 RAB6B skos:exactMatch hgnc.symbol:RAB6B semapv:UnspecifiedMatching OMIM:615852 RAB6B skos:exactMatch ncbigene:51560 semapv:UnspecifiedMatching -OMIM:615853 PAOX skos:exactMatch hgnc:PAOX semapv:UnspecifiedMatching +OMIM:615853 PAOX skos:exactMatch hgnc.symbol:20837 semapv:UnspecifiedMatching +OMIM:615853 PAOX skos:exactMatch hgnc.symbol:PAOX semapv:UnspecifiedMatching OMIM:615853 PAOX skos:exactMatch ncbigene:196743 semapv:UnspecifiedMatching -OMIM:615854 SMOX skos:exactMatch hgnc:SMOX semapv:UnspecifiedMatching +OMIM:615854 SMOX skos:exactMatch hgnc.symbol:15862 semapv:UnspecifiedMatching +OMIM:615854 SMOX skos:exactMatch hgnc.symbol:SMOX semapv:UnspecifiedMatching OMIM:615854 SMOX skos:exactMatch ncbigene:54498 semapv:UnspecifiedMatching -OMIM:615855 TMTC1 skos:exactMatch hgnc:TMTC1 semapv:UnspecifiedMatching +OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:24099 semapv:UnspecifiedMatching +OMIM:615855 TMTC1 skos:exactMatch hgnc.symbol:TMTC1 semapv:UnspecifiedMatching OMIM:615855 TMTC1 skos:exactMatch ncbigene:83857 semapv:UnspecifiedMatching -OMIM:615856 TMTC2 skos:exactMatch hgnc:TMTC2 semapv:UnspecifiedMatching +OMIM:615856 TMTC2 skos:exactMatch hgnc.symbol:25440 semapv:UnspecifiedMatching +OMIM:615856 TMTC2 skos:exactMatch hgnc.symbol:TMTC2 semapv:UnspecifiedMatching OMIM:615856 TMTC2 skos:exactMatch ncbigene:160335 semapv:UnspecifiedMatching -OMIM:615857 OGFOD1 skos:exactMatch hgnc:OGFOD1 semapv:UnspecifiedMatching +OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:25585 semapv:UnspecifiedMatching +OMIM:615857 OGFOD1 skos:exactMatch hgnc.symbol:OGFOD1 semapv:UnspecifiedMatching OMIM:615857 OGFOD1 skos:exactMatch ncbigene:55239 semapv:UnspecifiedMatching -OMIM:615858 RSBN1 skos:exactMatch hgnc:RSBN1 semapv:UnspecifiedMatching +OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:25642 semapv:UnspecifiedMatching +OMIM:615858 RSBN1 skos:exactMatch hgnc.symbol:RSBN1 semapv:UnspecifiedMatching OMIM:615858 RSBN1 skos:exactMatch ncbigene:54665 semapv:UnspecifiedMatching +OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch Orphanet:411986 semapv:UnspecifiedMatching OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch UMLS:C4014492 semapv:UnspecifiedMatching -OMIM:615859 developmental and epileptic encephalopathy 23 skos:exactMatch orphanet.ordo:411986 semapv:UnspecifiedMatching -OMIM:615864 CEP97 skos:exactMatch hgnc:CEP97 semapv:UnspecifiedMatching +OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:26244 semapv:UnspecifiedMatching +OMIM:615864 CEP97 skos:exactMatch hgnc.symbol:CEP97 semapv:UnspecifiedMatching OMIM:615864 CEP97 skos:exactMatch ncbigene:79598 semapv:UnspecifiedMatching -OMIM:615865 NEURL4 skos:exactMatch hgnc:NEURL4 semapv:UnspecifiedMatching +OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:34410 semapv:UnspecifiedMatching +OMIM:615865 NEURL4 skos:exactMatch hgnc.symbol:NEURL4 semapv:UnspecifiedMatching OMIM:615865 NEURL4 skos:exactMatch ncbigene:84461 semapv:UnspecifiedMatching +OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch UMLS:C4014528 semapv:UnspecifiedMatching -OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism skos:exactMatch orphanet.ordo:1465 semapv:UnspecifiedMatching -OMIM:615867 TBC1D32 skos:exactMatch hgnc:TBC1D32 semapv:UnspecifiedMatching +OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:21485 semapv:UnspecifiedMatching +OMIM:615867 TBC1D32 skos:exactMatch hgnc.symbol:TBC1D32 semapv:UnspecifiedMatching OMIM:615867 TBC1D32 skos:exactMatch ncbigene:221322 semapv:UnspecifiedMatching -OMIM:615868 SPINK6 skos:exactMatch hgnc:SPINK6 semapv:UnspecifiedMatching +OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:29486 semapv:UnspecifiedMatching +OMIM:615868 SPINK6 skos:exactMatch hgnc.symbol:SPINK6 semapv:UnspecifiedMatching OMIM:615868 SPINK6 skos:exactMatch ncbigene:404203 semapv:UnspecifiedMatching -OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc:TNFAIP8L1 semapv:UnspecifiedMatching +OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:28279 semapv:UnspecifiedMatching +OMIM:615869 TNFAIP8L1 skos:exactMatch hgnc.symbol:TNFAIP8L1 semapv:UnspecifiedMatching OMIM:615869 TNFAIP8L1 skos:exactMatch ncbigene:126282 semapv:UnspecifiedMatching -OMIM:615870 IFT27 skos:exactMatch hgnc:IFT27 semapv:UnspecifiedMatching +OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:18626 semapv:UnspecifiedMatching +OMIM:615870 IFT27 skos:exactMatch hgnc.symbol:IFT27 semapv:UnspecifiedMatching OMIM:615870 IFT27 skos:exactMatch ncbigene:11020 semapv:UnspecifiedMatching +OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch UMLS:C4014531 semapv:UnspecifiedMatching -OMIM:615871 developmental and epileptic encephalopathy 24 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:615874 RSL1D1 skos:exactMatch hgnc:RSL1D1 semapv:UnspecifiedMatching +OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:24534 semapv:UnspecifiedMatching +OMIM:615874 RSL1D1 skos:exactMatch hgnc.symbol:RSL1D1 semapv:UnspecifiedMatching OMIM:615874 RSL1D1 skos:exactMatch ncbigene:26156 semapv:UnspecifiedMatching -OMIM:615875 RWDD3 skos:exactMatch hgnc:RWDD3 semapv:UnspecifiedMatching +OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:21393 semapv:UnspecifiedMatching +OMIM:615875 RWDD3 skos:exactMatch hgnc.symbol:RWDD3 semapv:UnspecifiedMatching OMIM:615875 RWDD3 skos:exactMatch ncbigene:25950 semapv:UnspecifiedMatching -OMIM:615876 RSPH3 skos:exactMatch hgnc:RSPH3 semapv:UnspecifiedMatching +OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:21054 semapv:UnspecifiedMatching +OMIM:615876 RSPH3 skos:exactMatch hgnc.symbol:RSPH3 semapv:UnspecifiedMatching OMIM:615876 RSPH3 skos:exactMatch ncbigene:83861 semapv:UnspecifiedMatching +OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch Orphanet:404443 semapv:UnspecifiedMatching OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch UMLS:C4014545 semapv:UnspecifiedMatching -OMIM:615879 tatton-brown-rahman syndrome skos:exactMatch orphanet.ordo:404443 semapv:UnspecifiedMatching -OMIM:615880 ARHGAP39 skos:exactMatch hgnc:ARHGAP39 semapv:UnspecifiedMatching +OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:29351 semapv:UnspecifiedMatching +OMIM:615880 ARHGAP39 skos:exactMatch hgnc.symbol:ARHGAP39 semapv:UnspecifiedMatching OMIM:615880 ARHGAP39 skos:exactMatch ncbigene:80728 semapv:UnspecifiedMatching -OMIM:615882 RABGAP1 skos:exactMatch hgnc:RABGAP1 semapv:UnspecifiedMatching +OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:17155 semapv:UnspecifiedMatching +OMIM:615882 RABGAP1 skos:exactMatch hgnc.symbol:RABGAP1 semapv:UnspecifiedMatching OMIM:615882 RABGAP1 skos:exactMatch ncbigene:23637 semapv:UnspecifiedMatching -OMIM:615884 APMAP skos:exactMatch hgnc:APMAP semapv:UnspecifiedMatching +OMIM:615884 APMAP skos:exactMatch hgnc.symbol:13238 semapv:UnspecifiedMatching +OMIM:615884 APMAP skos:exactMatch hgnc.symbol:APMAP semapv:UnspecifiedMatching OMIM:615884 APMAP skos:exactMatch ncbigene:57136 semapv:UnspecifiedMatching -OMIM:615886 FAM83G skos:exactMatch hgnc:FAM83G semapv:UnspecifiedMatching +OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:32554 semapv:UnspecifiedMatching +OMIM:615886 FAM83G skos:exactMatch hgnc.symbol:FAM83G semapv:UnspecifiedMatching OMIM:615886 FAM83G skos:exactMatch ncbigene:644815 semapv:UnspecifiedMatching -OMIM:615890 DYNC1LI1 skos:exactMatch hgnc:DYNC1LI1 semapv:UnspecifiedMatching +OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:18745 semapv:UnspecifiedMatching +OMIM:615890 DYNC1LI1 skos:exactMatch hgnc.symbol:DYNC1LI1 semapv:UnspecifiedMatching OMIM:615890 DYNC1LI1 skos:exactMatch ncbigene:51143 semapv:UnspecifiedMatching -OMIM:615891 ZBTB8OS skos:exactMatch hgnc:ZBTB8OS semapv:UnspecifiedMatching +OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:24094 semapv:UnspecifiedMatching +OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:ZBTB8OS semapv:UnspecifiedMatching OMIM:615891 ZBTB8OS skos:exactMatch ncbigene:339487 semapv:UnspecifiedMatching -OMIM:615893 NEURL1B skos:exactMatch hgnc:NEURL1B semapv:UnspecifiedMatching +OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:35422 semapv:UnspecifiedMatching +OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:NEURL1B semapv:UnspecifiedMatching OMIM:615893 NEURL1B skos:exactMatch ncbigene:54492 semapv:UnspecifiedMatching -OMIM:615894 ZNF407 skos:exactMatch hgnc:ZNF407 semapv:UnspecifiedMatching +OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:19904 semapv:UnspecifiedMatching +OMIM:615894 ZNF407 skos:exactMatch hgnc.symbol:ZNF407 semapv:UnspecifiedMatching OMIM:615894 ZNF407 skos:exactMatch ncbigene:55628 semapv:UnspecifiedMatching OMIM:615898 NDUFAF7 skos:exactMatch UMLS:C2240250 semapv:UnspecifiedMatching -OMIM:615898 NDUFAF7 skos:exactMatch hgnc:NDUFAF7 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:28816 semapv:UnspecifiedMatching +OMIM:615898 NDUFAF7 skos:exactMatch hgnc.symbol:NDUFAF7 semapv:UnspecifiedMatching OMIM:615898 NDUFAF7 skos:exactMatch ncbigene:55471 semapv:UnspecifiedMatching -OMIM:615899 OLFML2A skos:exactMatch hgnc:OLFML2A semapv:UnspecifiedMatching +OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:27270 semapv:UnspecifiedMatching +OMIM:615899 OLFML2A skos:exactMatch hgnc.symbol:OLFML2A semapv:UnspecifiedMatching OMIM:615899 OLFML2A skos:exactMatch ncbigene:169611 semapv:UnspecifiedMatching -OMIM:615900 AGBL5 skos:exactMatch hgnc:AGBL5 semapv:UnspecifiedMatching +OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:26147 semapv:UnspecifiedMatching +OMIM:615900 AGBL5 skos:exactMatch hgnc.symbol:AGBL5 semapv:UnspecifiedMatching OMIM:615900 AGBL5 skos:exactMatch ncbigene:60509 semapv:UnspecifiedMatching -OMIM:615901 NCCRP1 skos:exactMatch hgnc:NCCRP1 semapv:UnspecifiedMatching +OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:33739 semapv:UnspecifiedMatching +OMIM:615901 NCCRP1 skos:exactMatch hgnc.symbol:NCCRP1 semapv:UnspecifiedMatching OMIM:615901 NCCRP1 skos:exactMatch ncbigene:342897 semapv:UnspecifiedMatching -OMIM:615902 PPP2R3C skos:exactMatch hgnc:PPP2R3C semapv:UnspecifiedMatching +OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:17485 semapv:UnspecifiedMatching +OMIM:615902 PPP2R3C skos:exactMatch hgnc.symbol:PPP2R3C semapv:UnspecifiedMatching OMIM:615902 PPP2R3C skos:exactMatch ncbigene:55012 semapv:UnspecifiedMatching -OMIM:615903 CHCHD10 skos:exactMatch hgnc:CHCHD10 semapv:UnspecifiedMatching +OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:15559 semapv:UnspecifiedMatching +OMIM:615903 CHCHD10 skos:exactMatch hgnc.symbol:CHCHD10 semapv:UnspecifiedMatching OMIM:615903 CHCHD10 skos:exactMatch ncbigene:400916 semapv:UnspecifiedMatching OMIM:615904 PXDNL skos:exactMatch UMLS:C1826746 semapv:UnspecifiedMatching -OMIM:615904 PXDNL skos:exactMatch hgnc:PXDNL semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:26359 semapv:UnspecifiedMatching +OMIM:615904 PXDNL skos:exactMatch hgnc.symbol:PXDNL semapv:UnspecifiedMatching OMIM:615904 PXDNL skos:exactMatch ncbigene:137902 semapv:UnspecifiedMatching +OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch UMLS:C4014621 semapv:UnspecifiedMatching -OMIM:615905 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching OMIM:615906 OBI1 skos:exactMatch UMLS:C1426846 semapv:UnspecifiedMatching -OMIM:615906 OBI1 skos:exactMatch hgnc:OBI1 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:20308 semapv:UnspecifiedMatching +OMIM:615906 OBI1 skos:exactMatch hgnc.symbol:OBI1 semapv:UnspecifiedMatching OMIM:615906 OBI1 skos:exactMatch ncbigene:79596 semapv:UnspecifiedMatching -OMIM:615908 MIR520C skos:exactMatch hgnc:MIR520C semapv:UnspecifiedMatching +OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:32108 semapv:UnspecifiedMatching +OMIM:615908 MIR520C skos:exactMatch hgnc.symbol:MIR520C semapv:UnspecifiedMatching OMIM:615908 MIR520C skos:exactMatch ncbigene:574476 semapv:UnspecifiedMatching OMIM:615910 NAXD skos:exactMatch UMLS:C2681323 semapv:UnspecifiedMatching OMIM:615910 NAXD skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching -OMIM:615910 NAXD skos:exactMatch hgnc:NAXD semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch hgnc.symbol:25576 semapv:UnspecifiedMatching +OMIM:615910 NAXD skos:exactMatch hgnc.symbol:NAXD semapv:UnspecifiedMatching OMIM:615910 NAXD skos:exactMatch ncbigene:55739 semapv:UnspecifiedMatching -OMIM:615912 GSTCD skos:exactMatch hgnc:GSTCD semapv:UnspecifiedMatching +OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:25806 semapv:UnspecifiedMatching +OMIM:615912 GSTCD skos:exactMatch hgnc.symbol:GSTCD semapv:UnspecifiedMatching OMIM:615912 GSTCD skos:exactMatch ncbigene:79807 semapv:UnspecifiedMatching -OMIM:615913 PM20D2 skos:exactMatch hgnc:PM20D2 semapv:UnspecifiedMatching +OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:21408 semapv:UnspecifiedMatching +OMIM:615913 PM20D2 skos:exactMatch hgnc.symbol:PM20D2 semapv:UnspecifiedMatching OMIM:615913 PM20D2 skos:exactMatch ncbigene:135293 semapv:UnspecifiedMatching -OMIM:615914 CDKN2AIP skos:exactMatch hgnc:CDKN2AIP semapv:UnspecifiedMatching +OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:24325 semapv:UnspecifiedMatching +OMIM:615914 CDKN2AIP skos:exactMatch hgnc.symbol:CDKN2AIP semapv:UnspecifiedMatching OMIM:615914 CDKN2AIP skos:exactMatch ncbigene:55602 semapv:UnspecifiedMatching -OMIM:615915 ZPLD1 skos:exactMatch hgnc:ZPLD1 semapv:UnspecifiedMatching +OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:27022 semapv:UnspecifiedMatching +OMIM:615915 ZPLD1 skos:exactMatch hgnc.symbol:ZPLD1 semapv:UnspecifiedMatching OMIM:615915 ZPLD1 skos:exactMatch ncbigene:131368 semapv:UnspecifiedMatching +OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch Orphanet:420728 semapv:UnspecifiedMatching OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch UMLS:C4014660 semapv:UnspecifiedMatching -OMIM:615917 combined oxidative phosphorylation deficiency 20 skos:exactMatch orphanet.ordo:420728 semapv:UnspecifiedMatching -OMIM:615920 PRR11 skos:exactMatch hgnc:PRR11 semapv:UnspecifiedMatching +OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:25619 semapv:UnspecifiedMatching +OMIM:615920 PRR11 skos:exactMatch hgnc.symbol:PRR11 semapv:UnspecifiedMatching OMIM:615920 PRR11 skos:exactMatch ncbigene:55771 semapv:UnspecifiedMatching -OMIM:615921 PERM1 skos:exactMatch hgnc:PERM1 semapv:UnspecifiedMatching +OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:28208 semapv:UnspecifiedMatching +OMIM:615921 PERM1 skos:exactMatch hgnc.symbol:PERM1 semapv:UnspecifiedMatching OMIM:615921 PERM1 skos:exactMatch ncbigene:84808 semapv:UnspecifiedMatching -OMIM:615927 RFLNA skos:exactMatch hgnc:RFLNA semapv:UnspecifiedMatching +OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:27051 semapv:UnspecifiedMatching +OMIM:615927 RFLNA skos:exactMatch hgnc.symbol:RFLNA semapv:UnspecifiedMatching OMIM:615927 RFLNA skos:exactMatch ncbigene:144347 semapv:UnspecifiedMatching -OMIM:615928 RFLNB skos:exactMatch hgnc:RFLNB semapv:UnspecifiedMatching +OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:28705 semapv:UnspecifiedMatching +OMIM:615928 RFLNB skos:exactMatch hgnc.symbol:RFLNB semapv:UnspecifiedMatching OMIM:615928 RFLNB skos:exactMatch ncbigene:359845 semapv:UnspecifiedMatching -OMIM:615929 ANKRD17 skos:exactMatch hgnc:ANKRD17 semapv:UnspecifiedMatching +OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:23575 semapv:UnspecifiedMatching +OMIM:615929 ANKRD17 skos:exactMatch hgnc.symbol:ANKRD17 semapv:UnspecifiedMatching OMIM:615929 ANKRD17 skos:exactMatch ncbigene:26057 semapv:UnspecifiedMatching -OMIM:615930 CAHM skos:exactMatch hgnc:CAHM semapv:UnspecifiedMatching +OMIM:615930 CAHM skos:exactMatch hgnc.symbol:42860 semapv:UnspecifiedMatching +OMIM:615930 CAHM skos:exactMatch hgnc.symbol:CAHM semapv:UnspecifiedMatching OMIM:615930 CAHM skos:exactMatch ncbigene:100526820 semapv:UnspecifiedMatching -OMIM:615931 PRR16 skos:exactMatch hgnc:PRR16 semapv:UnspecifiedMatching +OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:29654 semapv:UnspecifiedMatching +OMIM:615931 PRR16 skos:exactMatch hgnc.symbol:PRR16 semapv:UnspecifiedMatching OMIM:615931 PRR16 skos:exactMatch ncbigene:51334 semapv:UnspecifiedMatching -OMIM:615932 KCTD20 skos:exactMatch hgnc:KCTD20 semapv:UnspecifiedMatching +OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:21052 semapv:UnspecifiedMatching +OMIM:615932 KCTD20 skos:exactMatch hgnc.symbol:KCTD20 semapv:UnspecifiedMatching OMIM:615932 KCTD20 skos:exactMatch ncbigene:222658 semapv:UnspecifiedMatching -OMIM:615933 BTBD10 skos:exactMatch hgnc:BTBD10 semapv:UnspecifiedMatching +OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:21445 semapv:UnspecifiedMatching +OMIM:615933 BTBD10 skos:exactMatch hgnc.symbol:BTBD10 semapv:UnspecifiedMatching OMIM:615933 BTBD10 skos:exactMatch ncbigene:84280 semapv:UnspecifiedMatching -OMIM:615936 ARHGAP42 skos:exactMatch hgnc:ARHGAP42 semapv:UnspecifiedMatching +OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:26545 semapv:UnspecifiedMatching +OMIM:615936 ARHGAP42 skos:exactMatch hgnc.symbol:ARHGAP42 semapv:UnspecifiedMatching OMIM:615936 ARHGAP42 skos:exactMatch ncbigene:143872 semapv:UnspecifiedMatching +OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch Orphanet:83473 semapv:UnspecifiedMatching OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch UMLS:C4014738 semapv:UnspecifiedMatching -OMIM:615937 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:exactMatch orphanet.ordo:83473 semapv:UnspecifiedMatching -OMIM:615939 PTPLB skos:exactMatch hgnc:HACD2 semapv:UnspecifiedMatching +OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:9640 semapv:UnspecifiedMatching +OMIM:615939 PTPLB skos:exactMatch hgnc.symbol:HACD2 semapv:UnspecifiedMatching OMIM:615939 PTPLB skos:exactMatch ncbigene:201562 semapv:UnspecifiedMatching -OMIM:615940 PTPLAD1 skos:exactMatch hgnc:HACD3 semapv:UnspecifiedMatching +OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:24175 semapv:UnspecifiedMatching +OMIM:615940 PTPLAD1 skos:exactMatch hgnc.symbol:HACD3 semapv:UnspecifiedMatching OMIM:615940 PTPLAD1 skos:exactMatch ncbigene:51495 semapv:UnspecifiedMatching -OMIM:615941 PTPLAD2 skos:exactMatch hgnc:HACD4 semapv:UnspecifiedMatching +OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:20920 semapv:UnspecifiedMatching +OMIM:615941 PTPLAD2 skos:exactMatch hgnc.symbol:HACD4 semapv:UnspecifiedMatching OMIM:615941 PTPLAD2 skos:exactMatch ncbigene:401494 semapv:UnspecifiedMatching -OMIM:615943 MAGI3 skos:exactMatch hgnc:MAGI3 semapv:UnspecifiedMatching +OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:29647 semapv:UnspecifiedMatching +OMIM:615943 MAGI3 skos:exactMatch hgnc.symbol:MAGI3 semapv:UnspecifiedMatching OMIM:615943 MAGI3 skos:exactMatch ncbigene:260425 semapv:UnspecifiedMatching -OMIM:615944 C2CD3 skos:exactMatch hgnc:C2CD3 semapv:UnspecifiedMatching +OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:24564 semapv:UnspecifiedMatching +OMIM:615944 C2CD3 skos:exactMatch hgnc.symbol:C2CD3 semapv:UnspecifiedMatching OMIM:615944 C2CD3 skos:exactMatch ncbigene:26005 semapv:UnspecifiedMatching +OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch Orphanet:363710 semapv:UnspecifiedMatching OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch UMLS:C3889636 semapv:UnspecifiedMatching -OMIM:615945 spinocerebellar ataxia 37 skos:exactMatch orphanet.ordo:363710 semapv:UnspecifiedMatching -OMIM:615949 TMEM98 skos:exactMatch hgnc:TMEM98 semapv:UnspecifiedMatching +OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:24529 semapv:UnspecifiedMatching +OMIM:615949 TMEM98 skos:exactMatch hgnc.symbol:TMEM98 semapv:UnspecifiedMatching OMIM:615949 TMEM98 skos:exactMatch ncbigene:26022 semapv:UnspecifiedMatching -OMIM:615950 SPEG skos:exactMatch hgnc:SPEG semapv:UnspecifiedMatching +OMIM:615950 SPEG skos:exactMatch hgnc.symbol:16901 semapv:UnspecifiedMatching +OMIM:615950 SPEG skos:exactMatch hgnc.symbol:SPEG semapv:UnspecifiedMatching OMIM:615950 SPEG skos:exactMatch ncbigene:10290 semapv:UnspecifiedMatching -OMIM:615951 ZSWIM6 skos:exactMatch hgnc:ZSWIM6 semapv:UnspecifiedMatching +OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:29316 semapv:UnspecifiedMatching +OMIM:615951 ZSWIM6 skos:exactMatch hgnc.symbol:ZSWIM6 semapv:UnspecifiedMatching OMIM:615951 ZSWIM6 skos:exactMatch ncbigene:57688 semapv:UnspecifiedMatching -OMIM:615955 CCDC183 skos:exactMatch hgnc:CCDC183 semapv:UnspecifiedMatching +OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:28236 semapv:UnspecifiedMatching +OMIM:615955 CCDC183 skos:exactMatch hgnc.symbol:CCDC183 semapv:UnspecifiedMatching OMIM:615955 CCDC183 skos:exactMatch ncbigene:84960 semapv:UnspecifiedMatching -OMIM:615956 ODAD3 skos:exactMatch hgnc:ODAD3 semapv:UnspecifiedMatching +OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:28303 semapv:UnspecifiedMatching +OMIM:615956 ODAD3 skos:exactMatch hgnc.symbol:ODAD3 semapv:UnspecifiedMatching OMIM:615956 ODAD3 skos:exactMatch ncbigene:115948 semapv:UnspecifiedMatching -OMIM:615958 SLX4IP skos:exactMatch hgnc:SLX4IP semapv:UnspecifiedMatching +OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:16225 semapv:UnspecifiedMatching +OMIM:615958 SLX4IP skos:exactMatch hgnc.symbol:SLX4IP semapv:UnspecifiedMatching OMIM:615958 SLX4IP skos:exactMatch ncbigene:128710 semapv:UnspecifiedMatching -OMIM:615964 MIR99AHG skos:exactMatch hgnc:MIR99AHG semapv:UnspecifiedMatching +OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:1274 semapv:UnspecifiedMatching +OMIM:615964 MIR99AHG skos:exactMatch hgnc.symbol:MIR99AHG semapv:UnspecifiedMatching OMIM:615964 MIR99AHG skos:exactMatch ncbigene:388815 semapv:UnspecifiedMatching -OMIM:615965 MIR100HG skos:exactMatch hgnc:MIR100HG semapv:UnspecifiedMatching +OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:39522 semapv:UnspecifiedMatching +OMIM:615965 MIR100HG skos:exactMatch hgnc.symbol:MIR100HG semapv:UnspecifiedMatching OMIM:615965 MIR100HG skos:exactMatch ncbigene:399959 semapv:UnspecifiedMatching +OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch Orphanet:317425 semapv:UnspecifiedMatching OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch UMLS:C4014833 semapv:UnspecifiedMatching -OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities skos:exactMatch orphanet.ordo:317425 semapv:UnspecifiedMatching -OMIM:615967 CYP2W1 skos:exactMatch hgnc:CYP2W1 semapv:UnspecifiedMatching +OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:20243 semapv:UnspecifiedMatching +OMIM:615967 CYP2W1 skos:exactMatch hgnc.symbol:CYP2W1 semapv:UnspecifiedMatching OMIM:615967 CYP2W1 skos:exactMatch ncbigene:54905 semapv:UnspecifiedMatching -OMIM:615968 MYCNUT skos:exactMatch hgnc:MYCNUT semapv:UnspecifiedMatching +OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:32684 semapv:UnspecifiedMatching +OMIM:615968 MYCNUT skos:exactMatch hgnc.symbol:MYCNUT semapv:UnspecifiedMatching OMIM:615968 MYCNUT skos:exactMatch ncbigene:103752554 semapv:UnspecifiedMatching -OMIM:615975 TMEM129 skos:exactMatch hgnc:TMEM129 semapv:UnspecifiedMatching +OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:25137 semapv:UnspecifiedMatching +OMIM:615975 TMEM129 skos:exactMatch hgnc.symbol:TMEM129 semapv:UnspecifiedMatching OMIM:615975 TMEM129 skos:exactMatch ncbigene:92305 semapv:UnspecifiedMatching -OMIM:615976 FOXCUT skos:exactMatch hgnc:FOXCUT semapv:UnspecifiedMatching +OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:50650 semapv:UnspecifiedMatching +OMIM:615976 FOXCUT skos:exactMatch hgnc.symbol:FOXCUT semapv:UnspecifiedMatching OMIM:615976 FOXCUT skos:exactMatch ncbigene:101927703 semapv:UnspecifiedMatching -OMIM:615977 MIR339 skos:exactMatch hgnc:MIR339 semapv:UnspecifiedMatching +OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:31776 semapv:UnspecifiedMatching +OMIM:615977 MIR339 skos:exactMatch hgnc.symbol:MIR339 semapv:UnspecifiedMatching OMIM:615977 MIR339 skos:exactMatch ncbigene:442907 semapv:UnspecifiedMatching +OMIM:615978 immunodeficiency 27b skos:exactMatch Orphanet:319581 semapv:UnspecifiedMatching OMIM:615978 immunodeficiency 27b skos:exactMatch UMLS:C4014863 semapv:UnspecifiedMatching -OMIM:615978 immunodeficiency 27b skos:exactMatch orphanet.ordo:319581 semapv:UnspecifiedMatching +OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch Orphanet:110 semapv:UnspecifiedMatching OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch UMLS:C2673873 semapv:UnspecifiedMatching -OMIM:615990 bardet-biedl syndrome 13 skos:exactMatch orphanet.ordo:110 semapv:UnspecifiedMatching -OMIM:615997 DEFB119 skos:exactMatch hgnc:DEFB119 semapv:UnspecifiedMatching +OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:18099 semapv:UnspecifiedMatching +OMIM:615997 DEFB119 skos:exactMatch hgnc.symbol:DEFB119 semapv:UnspecifiedMatching OMIM:615997 DEFB119 skos:exactMatch ncbigene:245932 semapv:UnspecifiedMatching -OMIM:615998 RNF10 skos:exactMatch hgnc:RNF10 semapv:UnspecifiedMatching +OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:10055 semapv:UnspecifiedMatching +OMIM:615998 RNF10 skos:exactMatch hgnc.symbol:RNF10 semapv:UnspecifiedMatching OMIM:615998 RNF10 skos:exactMatch ncbigene:9921 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch UMLS:C3471496 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching -OMIM:616003 APOPT1 skos:exactMatch hgnc:COA8 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:20492 semapv:UnspecifiedMatching +OMIM:616003 APOPT1 skos:exactMatch hgnc.symbol:COA8 semapv:UnspecifiedMatching OMIM:616003 APOPT1 skos:exactMatch ncbigene:84334 semapv:UnspecifiedMatching -OMIM:616008 COPS4 skos:exactMatch hgnc:COPS4 semapv:UnspecifiedMatching +OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:16702 semapv:UnspecifiedMatching +OMIM:616008 COPS4 skos:exactMatch hgnc.symbol:COPS4 semapv:UnspecifiedMatching OMIM:616008 COPS4 skos:exactMatch ncbigene:51138 semapv:UnspecifiedMatching -OMIM:616009 COPS7A skos:exactMatch hgnc:COPS7A semapv:UnspecifiedMatching +OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:16758 semapv:UnspecifiedMatching +OMIM:616009 COPS7A skos:exactMatch hgnc.symbol:COPS7A semapv:UnspecifiedMatching OMIM:616009 COPS7A skos:exactMatch ncbigene:50813 semapv:UnspecifiedMatching -OMIM:616010 COPS7B skos:exactMatch hgnc:COPS7B semapv:UnspecifiedMatching +OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:16760 semapv:UnspecifiedMatching +OMIM:616010 COPS7B skos:exactMatch hgnc.symbol:COPS7B semapv:UnspecifiedMatching OMIM:616010 COPS7B skos:exactMatch ncbigene:64708 semapv:UnspecifiedMatching -OMIM:616011 COPS8 skos:exactMatch hgnc:COPS8 semapv:UnspecifiedMatching +OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:24335 semapv:UnspecifiedMatching +OMIM:616011 COPS8 skos:exactMatch hgnc.symbol:COPS8 semapv:UnspecifiedMatching OMIM:616011 COPS8 skos:exactMatch ncbigene:10920 semapv:UnspecifiedMatching -OMIM:616012 JAGN1 skos:exactMatch hgnc:JAGN1 semapv:UnspecifiedMatching +OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:26926 semapv:UnspecifiedMatching +OMIM:616012 JAGN1 skos:exactMatch hgnc.symbol:JAGN1 semapv:UnspecifiedMatching OMIM:616012 JAGN1 skos:exactMatch ncbigene:84522 semapv:UnspecifiedMatching -OMIM:616013 TRMT10A skos:exactMatch hgnc:TRMT10A semapv:UnspecifiedMatching +OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:28403 semapv:UnspecifiedMatching +OMIM:616013 TRMT10A skos:exactMatch hgnc.symbol:TRMT10A semapv:UnspecifiedMatching OMIM:616013 TRMT10A skos:exactMatch ncbigene:93587 semapv:UnspecifiedMatching -OMIM:616014 RNF25 skos:exactMatch hgnc:RNF25 semapv:UnspecifiedMatching +OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:14662 semapv:UnspecifiedMatching +OMIM:616014 RNF25 skos:exactMatch hgnc.symbol:RNF25 semapv:UnspecifiedMatching OMIM:616014 RNF25 skos:exactMatch ncbigene:64320 semapv:UnspecifiedMatching -OMIM:616015 RNF180 skos:exactMatch hgnc:RNF180 semapv:UnspecifiedMatching +OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:27752 semapv:UnspecifiedMatching +OMIM:616015 RNF180 skos:exactMatch hgnc.symbol:RNF180 semapv:UnspecifiedMatching OMIM:616015 RNF180 skos:exactMatch ncbigene:285671 semapv:UnspecifiedMatching -OMIM:616016 PPM1H skos:exactMatch hgnc:PPM1H semapv:UnspecifiedMatching +OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:18583 semapv:UnspecifiedMatching +OMIM:616016 PPM1H skos:exactMatch hgnc.symbol:PPM1H semapv:UnspecifiedMatching OMIM:616016 PPM1H skos:exactMatch ncbigene:57460 semapv:UnspecifiedMatching -OMIM:616017 TRIM69 skos:exactMatch hgnc:TRIM69 semapv:UnspecifiedMatching +OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:17857 semapv:UnspecifiedMatching +OMIM:616017 TRIM69 skos:exactMatch hgnc.symbol:TRIM69 semapv:UnspecifiedMatching OMIM:616017 TRIM69 skos:exactMatch ncbigene:140691 semapv:UnspecifiedMatching -OMIM:616019 RCOR2 skos:exactMatch hgnc:RCOR2 semapv:UnspecifiedMatching +OMIM:616019 RCOR2 skos:exactMatch hgnc.symbol:27455 semapv:UnspecifiedMatching 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semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:19304 semapv:UnspecifiedMatching +OMIM:616023 SCAF4 skos:exactMatch hgnc.symbol:SCAF4 semapv:UnspecifiedMatching OMIM:616023 SCAF4 skos:exactMatch ncbigene:57466 semapv:UnspecifiedMatching -OMIM:616024 SCAF8 skos:exactMatch hgnc:SCAF8 semapv:UnspecifiedMatching +OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:20959 semapv:UnspecifiedMatching +OMIM:616024 SCAF8 skos:exactMatch hgnc.symbol:SCAF8 semapv:UnspecifiedMatching OMIM:616024 SCAF8 skos:exactMatch ncbigene:22828 semapv:UnspecifiedMatching +OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch Orphanet:247262 semapv:UnspecifiedMatching OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch UMLS:C4014958 semapv:UnspecifiedMatching -OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 skos:exactMatch orphanet.ordo:247262 semapv:UnspecifiedMatching -OMIM:616027 ANLN skos:exactMatch hgnc:ANLN 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FOXJ3 skos:exactMatch hgnc.symbol:29178 semapv:UnspecifiedMatching +OMIM:616035 FOXJ3 skos:exactMatch hgnc.symbol:FOXJ3 semapv:UnspecifiedMatching OMIM:616035 FOXJ3 skos:exactMatch ncbigene:22887 semapv:UnspecifiedMatching -OMIM:616036 MIR494 skos:exactMatch hgnc:MIR494 semapv:UnspecifiedMatching +OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:32084 semapv:UnspecifiedMatching +OMIM:616036 MIR494 skos:exactMatch hgnc.symbol:MIR494 semapv:UnspecifiedMatching OMIM:616036 MIR494 skos:exactMatch ncbigene:574452 semapv:UnspecifiedMatching -OMIM:616041 TSTD1 skos:exactMatch hgnc:TSTD1 semapv:UnspecifiedMatching +OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:35410 semapv:UnspecifiedMatching +OMIM:616041 TSTD1 skos:exactMatch hgnc.symbol:TSTD1 semapv:UnspecifiedMatching OMIM:616041 TSTD1 skos:exactMatch ncbigene:100131187 semapv:UnspecifiedMatching -OMIM:616043 PCAT1 skos:exactMatch hgnc:PCAT1 semapv:UnspecifiedMatching +OMIM:616043 PCAT1 skos:exactMatch hgnc.symbol:43022 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semapv:UnspecifiedMatching +OMIM:616047 CFAP97 skos:exactMatch hgnc.symbol:CFAP97 semapv:UnspecifiedMatching OMIM:616047 CFAP97 skos:exactMatch ncbigene:57587 semapv:UnspecifiedMatching -OMIM:616048 APTR skos:exactMatch hgnc:APTR semapv:UnspecifiedMatching +OMIM:616048 APTR skos:exactMatch hgnc.symbol:44173 semapv:UnspecifiedMatching +OMIM:616048 APTR skos:exactMatch hgnc.symbol:APTR semapv:UnspecifiedMatching OMIM:616048 APTR skos:exactMatch ncbigene:100505854 semapv:UnspecifiedMatching OMIM:616049 TOMM34 skos:exactMatch UMLS:C1423699 semapv:UnspecifiedMatching -OMIM:616049 TOMM34 skos:exactMatch hgnc:TOMM34 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:15746 semapv:UnspecifiedMatching +OMIM:616049 TOMM34 skos:exactMatch hgnc.symbol:TOMM34 semapv:UnspecifiedMatching OMIM:616049 TOMM34 skos:exactMatch ncbigene:10953 semapv:UnspecifiedMatching +OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 skos:exactMatch Orphanet:352479 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UMLS:C4225249 semapv:UnspecifiedMatching -OMIM:616062 ANKLE2 skos:exactMatch hgnc:ANKLE2 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:29101 semapv:UnspecifiedMatching +OMIM:616062 ANKLE2 skos:exactMatch hgnc.symbol:ANKLE2 semapv:UnspecifiedMatching OMIM:616062 ANKLE2 skos:exactMatch ncbigene:23141 semapv:UnspecifiedMatching -OMIM:616064 TINAGL1 skos:exactMatch hgnc:TINAGL1 semapv:UnspecifiedMatching +OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:19168 semapv:UnspecifiedMatching +OMIM:616064 TINAGL1 skos:exactMatch hgnc.symbol:TINAGL1 semapv:UnspecifiedMatching OMIM:616064 TINAGL1 skos:exactMatch ncbigene:64129 semapv:UnspecifiedMatching -OMIM:616065 PIANP skos:exactMatch hgnc:PIANP semapv:UnspecifiedMatching +OMIM:616065 PIANP skos:exactMatch hgnc.symbol:25338 semapv:UnspecifiedMatching +OMIM:616065 PIANP skos:exactMatch hgnc.symbol:PIANP semapv:UnspecifiedMatching OMIM:616065 PIANP skos:exactMatch ncbigene:196500 semapv:UnspecifiedMatching -OMIM:616066 SOHLH2 skos:exactMatch hgnc:SOHLH2 semapv:UnspecifiedMatching +OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:26026 semapv:UnspecifiedMatching +OMIM:616066 SOHLH2 skos:exactMatch hgnc.symbol:SOHLH2 semapv:UnspecifiedMatching OMIM:616066 SOHLH2 skos:exactMatch ncbigene:54937 semapv:UnspecifiedMatching -OMIM:616068 HOXAAS2 skos:exactMatch hgnc:HOXA-AS2 semapv:UnspecifiedMatching +OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:43745 semapv:UnspecifiedMatching +OMIM:616068 HOXAAS2 skos:exactMatch hgnc.symbol:HOXA-AS2 semapv:UnspecifiedMatching OMIM:616068 HOXAAS2 skos:exactMatch ncbigene:285943 semapv:UnspecifiedMatching +OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch Orphanet:294023 semapv:UnspecifiedMatching OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch UMLS:C4015130 semapv:UnspecifiedMatching -OMIM:616069 inflammatory skin and bowel disease, neonatal, 2 skos:exactMatch orphanet.ordo:294023 semapv:UnspecifiedMatching -OMIM:616070 CCDC113 skos:exactMatch hgnc:CCDC113 semapv:UnspecifiedMatching +OMIM:616070 CCDC113 skos:exactMatch hgnc.symbol:CFAP263 semapv:UnspecifiedMatching OMIM:616070 CCDC113 skos:exactMatch ncbigene:29070 semapv:UnspecifiedMatching -OMIM:616071 C7ORF31 skos:exactMatch hgnc:SPMIP4 semapv:UnspecifiedMatching +OMIM:616071 C7ORF31 skos:exactMatch hgnc.symbol:SPMIP4 semapv:UnspecifiedMatching OMIM:616071 C7ORF31 skos:exactMatch ncbigene:136895 semapv:UnspecifiedMatching -OMIM:616072 HP1BP3 skos:exactMatch hgnc:HP1BP3 semapv:UnspecifiedMatching +OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:24973 semapv:UnspecifiedMatching +OMIM:616072 HP1BP3 skos:exactMatch hgnc.symbol:HP1BP3 semapv:UnspecifiedMatching OMIM:616072 HP1BP3 skos:exactMatch ncbigene:50809 semapv:UnspecifiedMatching -OMIM:616073 DEPDC1B skos:exactMatch hgnc:DEPDC1B semapv:UnspecifiedMatching +OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:24902 semapv:UnspecifiedMatching +OMIM:616073 DEPDC1B skos:exactMatch hgnc.symbol:DEPDC1B semapv:UnspecifiedMatching OMIM:616073 DEPDC1B skos:exactMatch ncbigene:55789 semapv:UnspecifiedMatching -OMIM:616074 CKLF skos:exactMatch hgnc:CKLF semapv:UnspecifiedMatching +OMIM:616074 CKLF skos:exactMatch hgnc.symbol:13253 semapv:UnspecifiedMatching +OMIM:616074 CKLF skos:exactMatch hgnc.symbol:CKLF semapv:UnspecifiedMatching OMIM:616074 CKLF skos:exactMatch ncbigene:51192 semapv:UnspecifiedMatching -OMIM:616075 DEFB121 skos:exactMatch hgnc:DEFB121 semapv:UnspecifiedMatching +OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:18101 semapv:UnspecifiedMatching +OMIM:616075 DEFB121 skos:exactMatch hgnc.symbol:DEFB121 semapv:UnspecifiedMatching OMIM:616075 DEFB121 skos:exactMatch ncbigene:245934 semapv:UnspecifiedMatching -OMIM:616076 DEFB123 skos:exactMatch hgnc:DEFB123 semapv:UnspecifiedMatching +OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:18103 semapv:UnspecifiedMatching +OMIM:616076 DEFB123 skos:exactMatch hgnc.symbol:DEFB123 semapv:UnspecifiedMatching OMIM:616076 DEFB123 skos:exactMatch ncbigene:245936 semapv:UnspecifiedMatching -OMIM:616077 DEFB122 skos:exactMatch hgnc:DEFB122 semapv:UnspecifiedMatching +OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:18102 semapv:UnspecifiedMatching +OMIM:616077 DEFB122 skos:exactMatch hgnc.symbol:DEFB122 semapv:UnspecifiedMatching OMIM:616077 DEFB122 skos:exactMatch ncbigene:245935 semapv:UnspecifiedMatching -OMIM:616082 C12ORF4 skos:exactMatch hgnc:C12orf4 semapv:UnspecifiedMatching +OMIM:616082 C12ORF4 skos:exactMatch hgnc.symbol:FERRY3 semapv:UnspecifiedMatching OMIM:616082 C12ORF4 skos:exactMatch ncbigene:57102 semapv:UnspecifiedMatching -OMIM:616085 ZNF37A skos:exactMatch hgnc:ZNF37A semapv:UnspecifiedMatching +OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:13102 semapv:UnspecifiedMatching +OMIM:616085 ZNF37A skos:exactMatch hgnc.symbol:ZNF37A semapv:UnspecifiedMatching OMIM:616085 ZNF37A skos:exactMatch ncbigene:7587 semapv:UnspecifiedMatching -OMIM:616086 SPRTN skos:exactMatch hgnc:SPRTN semapv:UnspecifiedMatching +OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:25356 semapv:UnspecifiedMatching +OMIM:616086 SPRTN skos:exactMatch hgnc.symbol:SPRTN semapv:UnspecifiedMatching OMIM:616086 SPRTN skos:exactMatch ncbigene:83932 semapv:UnspecifiedMatching OMIM:616087 iia 2 diabetes 5 skos:exactMatch UMLS:C4015183 semapv:UnspecifiedMatching OMIM:616088 RHEX skos:exactMatch UMLS:C1823800 semapv:UnspecifiedMatching -OMIM:616088 RHEX skos:exactMatch hgnc:RHEX semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch hgnc.symbol:25341 semapv:UnspecifiedMatching +OMIM:616088 RHEX skos:exactMatch hgnc.symbol:RHEX semapv:UnspecifiedMatching OMIM:616088 RHEX skos:exactMatch ncbigene:440712 semapv:UnspecifiedMatching -OMIM:616090 MIR802 skos:exactMatch hgnc:MIR802 semapv:UnspecifiedMatching +OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:33140 semapv:UnspecifiedMatching +OMIM:616090 MIR802 skos:exactMatch hgnc.symbol:MIR802 semapv:UnspecifiedMatching OMIM:616090 MIR802 skos:exactMatch ncbigene:768219 semapv:UnspecifiedMatching -OMIM:616091 METTL17 skos:exactMatch hgnc:METTL17 semapv:UnspecifiedMatching +OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:19280 semapv:UnspecifiedMatching +OMIM:616091 METTL17 skos:exactMatch hgnc.symbol:METTL17 semapv:UnspecifiedMatching OMIM:616091 METTL17 skos:exactMatch ncbigene:64745 semapv:UnspecifiedMatching -OMIM:616092 FALEC skos:exactMatch hgnc:FALEC semapv:UnspecifiedMatching +OMIM:616092 FALEC skos:exactMatch hgnc.symbol:43713 semapv:UnspecifiedMatching +OMIM:616092 FALEC skos:exactMatch hgnc.symbol:FALEC semapv:UnspecifiedMatching OMIM:616092 FALEC skos:exactMatch ncbigene:100874054 semapv:UnspecifiedMatching -OMIM:616096 MHRT skos:exactMatch hgnc:MHRT semapv:UnspecifiedMatching +OMIM:616096 MHRT skos:exactMatch hgnc.symbol:51291 semapv:UnspecifiedMatching +OMIM:616096 MHRT skos:exactMatch hgnc.symbol:MHRT semapv:UnspecifiedMatching OMIM:616096 MHRT skos:exactMatch ncbigene:104564225 semapv:UnspecifiedMatching -OMIM:616097 UQCC3 skos:exactMatch hgnc:UQCC3 semapv:UnspecifiedMatching +OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:34399 semapv:UnspecifiedMatching +OMIM:616097 UQCC3 skos:exactMatch hgnc.symbol:UQCC3 semapv:UnspecifiedMatching OMIM:616097 UQCC3 skos:exactMatch ncbigene:790955 semapv:UnspecifiedMatching -OMIM:616101 TMEM240 skos:exactMatch hgnc:TMEM240 semapv:UnspecifiedMatching +OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:25186 semapv:UnspecifiedMatching +OMIM:616101 TMEM240 skos:exactMatch hgnc.symbol:TMEM240 semapv:UnspecifiedMatching OMIM:616101 TMEM240 skos:exactMatch ncbigene:339453 semapv:UnspecifiedMatching -OMIM:616102 TMX3 skos:exactMatch hgnc:TMX3 semapv:UnspecifiedMatching +OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:24718 semapv:UnspecifiedMatching +OMIM:616102 TMX3 skos:exactMatch hgnc.symbol:TMX3 semapv:UnspecifiedMatching OMIM:616102 TMX3 skos:exactMatch ncbigene:54495 semapv:UnspecifiedMatching -OMIM:616103 LRIT1 skos:exactMatch hgnc:LRIT1 semapv:UnspecifiedMatching +OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:23404 semapv:UnspecifiedMatching +OMIM:616103 LRIT1 skos:exactMatch hgnc.symbol:LRIT1 semapv:UnspecifiedMatching OMIM:616103 LRIT1 skos:exactMatch ncbigene:26103 semapv:UnspecifiedMatching -OMIM:616104 RBPJL skos:exactMatch hgnc:RBPJL semapv:UnspecifiedMatching +OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:13761 semapv:UnspecifiedMatching +OMIM:616104 RBPJL skos:exactMatch hgnc.symbol:RBPJL semapv:UnspecifiedMatching OMIM:616104 RBPJL skos:exactMatch ncbigene:11317 semapv:UnspecifiedMatching OMIM:616105 SNX14 skos:exactMatch UMLS:C1423104 semapv:UnspecifiedMatching OMIM:616105 SNX14 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching -OMIM:616105 SNX14 skos:exactMatch hgnc:SNX14 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:14977 semapv:UnspecifiedMatching +OMIM:616105 SNX14 skos:exactMatch hgnc.symbol:SNX14 semapv:UnspecifiedMatching OMIM:616105 SNX14 skos:exactMatch ncbigene:57231 semapv:UnspecifiedMatching +OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch Orphanet:247353 semapv:UnspecifiedMatching OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch UMLS:C4015235 semapv:UnspecifiedMatching -OMIM:616106 psoriasis 15, pustular, susceptibility to skos:exactMatch orphanet.ordo:247353 semapv:UnspecifiedMatching -OMIM:616107 FAR1 skos:exactMatch hgnc:FAR1 semapv:UnspecifiedMatching +OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:26222 semapv:UnspecifiedMatching +OMIM:616107 FAR1 skos:exactMatch hgnc.symbol:FAR1 semapv:UnspecifiedMatching OMIM:616107 FAR1 skos:exactMatch ncbigene:84188 semapv:UnspecifiedMatching -OMIM:616109 C11ORF80 skos:exactMatch hgnc:TOP6BL semapv:UnspecifiedMatching +OMIM:616109 C11ORF80 skos:exactMatch hgnc.symbol:TOP6BL semapv:UnspecifiedMatching OMIM:616109 C11ORF80 skos:exactMatch ncbigene:79703 semapv:UnspecifiedMatching OMIM:616110 DTX4 skos:exactMatch UMLS:C1428799 semapv:UnspecifiedMatching -OMIM:616110 DTX4 skos:exactMatch hgnc:DTX4 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:29151 semapv:UnspecifiedMatching +OMIM:616110 DTX4 skos:exactMatch hgnc.symbol:DTX4 semapv:UnspecifiedMatching OMIM:616110 DTX4 skos:exactMatch ncbigene:23220 semapv:UnspecifiedMatching -OMIM:616112 LMOD3 skos:exactMatch hgnc:LMOD3 semapv:UnspecifiedMatching +OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:6649 semapv:UnspecifiedMatching +OMIM:616112 LMOD3 skos:exactMatch hgnc.symbol:LMOD3 semapv:UnspecifiedMatching OMIM:616112 LMOD3 skos:exactMatch ncbigene:56203 semapv:UnspecifiedMatching -OMIM:616114 CHD6 skos:exactMatch hgnc:CHD6 semapv:UnspecifiedMatching +OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:19057 semapv:UnspecifiedMatching +OMIM:616114 CHD6 skos:exactMatch hgnc.symbol:CHD6 semapv:UnspecifiedMatching OMIM:616114 CHD6 skos:exactMatch ncbigene:84181 semapv:UnspecifiedMatching +OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch Orphanet:436242 semapv:UnspecifiedMatching OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch UMLS:C4015285 semapv:UnspecifiedMatching -OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy skos:exactMatch orphanet.ordo:436242 semapv:UnspecifiedMatching -OMIM:616119 CFAP126 skos:exactMatch hgnc:CFAP126 semapv:UnspecifiedMatching +OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:32325 semapv:UnspecifiedMatching +OMIM:616119 CFAP126 skos:exactMatch hgnc.symbol:CFAP126 semapv:UnspecifiedMatching OMIM:616119 CFAP126 skos:exactMatch ncbigene:257177 semapv:UnspecifiedMatching -OMIM:616120 CWF19L1 skos:exactMatch hgnc:CWF19L1 semapv:UnspecifiedMatching +OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:25613 semapv:UnspecifiedMatching +OMIM:616120 CWF19L1 skos:exactMatch hgnc.symbol:CWF19L1 semapv:UnspecifiedMatching OMIM:616120 CWF19L1 skos:exactMatch ncbigene:55280 semapv:UnspecifiedMatching -OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc:GVINP1 semapv:UnspecifiedMatching -OMIM:616122 FAM86B1 skos:exactMatch hgnc:FAM86B1 semapv:UnspecifiedMatching +OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:25813 semapv:UnspecifiedMatching +OMIM:616121 gtpase, very large interferon-inducible, pseudogene 1 skos:exactMatch hgnc.symbol:GVINP1 semapv:UnspecifiedMatching +OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:28268 semapv:UnspecifiedMatching +OMIM:616122 FAM86B1 skos:exactMatch hgnc.symbol:FAM86B1 semapv:UnspecifiedMatching OMIM:616122 FAM86B1 skos:exactMatch ncbigene:85002 semapv:UnspecifiedMatching -OMIM:616123 FAM86B2 skos:exactMatch hgnc:FAM86B2 semapv:UnspecifiedMatching +OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:32222 semapv:UnspecifiedMatching +OMIM:616123 FAM86B2 skos:exactMatch hgnc.symbol:FAM86B2 semapv:UnspecifiedMatching OMIM:616123 FAM86B2 skos:exactMatch ncbigene:653333 semapv:UnspecifiedMatching -OMIM:616124 FAM86C1P skos:exactMatch hgnc:FAM86C1P semapv:UnspecifiedMatching +OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:25561 semapv:UnspecifiedMatching +OMIM:616124 FAM86C1P skos:exactMatch hgnc.symbol:FAM86C1P semapv:UnspecifiedMatching OMIM:616124 FAM86C1P skos:exactMatch ncbigene:55199 semapv:UnspecifiedMatching -OMIM:616125 PRMT9 skos:exactMatch hgnc:PRMT9 semapv:UnspecifiedMatching +OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:25099 semapv:UnspecifiedMatching +OMIM:616125 PRMT9 skos:exactMatch hgnc.symbol:PRMT9 semapv:UnspecifiedMatching OMIM:616125 PRMT9 skos:exactMatch ncbigene:90826 semapv:UnspecifiedMatching -OMIM:616128 FAM89B skos:exactMatch hgnc:FAM89B semapv:UnspecifiedMatching +OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:16708 semapv:UnspecifiedMatching +OMIM:616128 FAM89B skos:exactMatch hgnc.symbol:FAM89B semapv:UnspecifiedMatching OMIM:616128 FAM89B skos:exactMatch ncbigene:23625 semapv:UnspecifiedMatching -OMIM:616129 LURAP1 skos:exactMatch hgnc:LURAP1 semapv:UnspecifiedMatching +OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:32327 semapv:UnspecifiedMatching +OMIM:616129 LURAP1 skos:exactMatch hgnc.symbol:LURAP1 semapv:UnspecifiedMatching OMIM:616129 LURAP1 skos:exactMatch ncbigene:541468 semapv:UnspecifiedMatching -OMIM:616130 LURAP1L skos:exactMatch hgnc:LURAP1L semapv:UnspecifiedMatching +OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:31452 semapv:UnspecifiedMatching +OMIM:616130 LURAP1L skos:exactMatch hgnc.symbol:LURAP1L semapv:UnspecifiedMatching OMIM:616130 LURAP1L skos:exactMatch ncbigene:286343 semapv:UnspecifiedMatching -OMIM:616131 GACAT2 skos:exactMatch hgnc:GACAT2 semapv:UnspecifiedMatching +OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:50516 semapv:UnspecifiedMatching +OMIM:616131 GACAT2 skos:exactMatch hgnc.symbol:GACAT2 semapv:UnspecifiedMatching OMIM:616131 GACAT2 skos:exactMatch ncbigene:100287082 semapv:UnspecifiedMatching -OMIM:616132 GACAT3 skos:exactMatch hgnc:GACAT3 semapv:UnspecifiedMatching +OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:50847 semapv:UnspecifiedMatching +OMIM:616132 GACAT3 skos:exactMatch hgnc.symbol:GACAT3 semapv:UnspecifiedMatching OMIM:616132 GACAT3 skos:exactMatch ncbigene:104797537 semapv:UnspecifiedMatching -OMIM:616133 MPV17L2 skos:exactMatch hgnc:MPV17L2 semapv:UnspecifiedMatching +OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:28177 semapv:UnspecifiedMatching +OMIM:616133 MPV17L2 skos:exactMatch hgnc.symbol:MPV17L2 semapv:UnspecifiedMatching OMIM:616133 MPV17L2 skos:exactMatch ncbigene:84769 semapv:UnspecifiedMatching -OMIM:616134 H3F3C skos:exactMatch hgnc:H3-5 semapv:UnspecifiedMatching +OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:33164 semapv:UnspecifiedMatching +OMIM:616134 H3F3C skos:exactMatch hgnc.symbol:H3-5 semapv:UnspecifiedMatching OMIM:616134 H3F3C skos:exactMatch ncbigene:440093 semapv:UnspecifiedMatching -OMIM:616135 IFIT5 skos:exactMatch hgnc:IFIT5 semapv:UnspecifiedMatching +OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:13328 semapv:UnspecifiedMatching +OMIM:616135 IFIT5 skos:exactMatch hgnc.symbol:IFIT5 semapv:UnspecifiedMatching OMIM:616135 IFIT5 skos:exactMatch ncbigene:24138 semapv:UnspecifiedMatching -OMIM:616136 RNF220 skos:exactMatch hgnc:RNF220 semapv:UnspecifiedMatching +OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:25552 semapv:UnspecifiedMatching +OMIM:616136 RNF220 skos:exactMatch hgnc.symbol:RNF220 semapv:UnspecifiedMatching OMIM:616136 RNF220 skos:exactMatch ncbigene:55182 semapv:UnspecifiedMatching -OMIM:616137 MIR873 skos:exactMatch hgnc:MIR873 semapv:UnspecifiedMatching +OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:33663 semapv:UnspecifiedMatching +OMIM:616137 MIR873 skos:exactMatch hgnc.symbol:MIR873 semapv:UnspecifiedMatching OMIM:616137 MIR873 skos:exactMatch ncbigene:100126316 semapv:UnspecifiedMatching +OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch UMLS:C4015316 semapv:UnspecifiedMatching -OMIM:616139 developmental and epileptic encephalopathy 27 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:616141 MACROH2A2 skos:exactMatch hgnc:MACROH2A2 semapv:UnspecifiedMatching +OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:14453 semapv:UnspecifiedMatching +OMIM:616141 MACROH2A2 skos:exactMatch hgnc.symbol:MACROH2A2 semapv:UnspecifiedMatching OMIM:616141 MACROH2A2 skos:exactMatch ncbigene:55506 semapv:UnspecifiedMatching -OMIM:616142 FAM98B skos:exactMatch hgnc:FAM98B semapv:UnspecifiedMatching +OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:26773 semapv:UnspecifiedMatching +OMIM:616142 FAM98B skos:exactMatch hgnc.symbol:FAM98B semapv:UnspecifiedMatching OMIM:616142 FAM98B skos:exactMatch ncbigene:283742 semapv:UnspecifiedMatching -OMIM:616143 LYPLA2 skos:exactMatch hgnc:LYPLA2 semapv:UnspecifiedMatching +OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:6738 semapv:UnspecifiedMatching +OMIM:616143 LYPLA2 skos:exactMatch hgnc.symbol:LYPLA2 semapv:UnspecifiedMatching OMIM:616143 LYPLA2 skos:exactMatch ncbigene:11313 semapv:UnspecifiedMatching -OMIM:616144 WDR73 skos:exactMatch hgnc:WDR73 semapv:UnspecifiedMatching +OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:25928 semapv:UnspecifiedMatching +OMIM:616144 WDR73 skos:exactMatch hgnc.symbol:WDR73 semapv:UnspecifiedMatching OMIM:616144 WDR73 skos:exactMatch ncbigene:84942 semapv:UnspecifiedMatching -OMIM:616146 TGDS skos:exactMatch hgnc:TGDS semapv:UnspecifiedMatching +OMIM:616146 TGDS skos:exactMatch hgnc.symbol:20324 semapv:UnspecifiedMatching +OMIM:616146 TGDS skos:exactMatch hgnc.symbol:TGDS semapv:UnspecifiedMatching OMIM:616146 TGDS skos:exactMatch ncbigene:23483 semapv:UnspecifiedMatching -OMIM:616147 CDK15 skos:exactMatch hgnc:CDK15 semapv:UnspecifiedMatching +OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:14434 semapv:UnspecifiedMatching +OMIM:616147 CDK15 skos:exactMatch hgnc.symbol:CDK15 semapv:UnspecifiedMatching OMIM:616147 CDK15 skos:exactMatch ncbigene:65061 semapv:UnspecifiedMatching -OMIM:616148 TRIM59 skos:exactMatch hgnc:TRIM59 semapv:UnspecifiedMatching +OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:30834 semapv:UnspecifiedMatching +OMIM:616148 TRIM59 skos:exactMatch hgnc.symbol:TRIM59 semapv:UnspecifiedMatching OMIM:616148 TRIM59 skos:exactMatch ncbigene:286827 semapv:UnspecifiedMatching -OMIM:616149 SLC25A36 skos:exactMatch hgnc:SLC25A36 semapv:UnspecifiedMatching +OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:25554 semapv:UnspecifiedMatching +OMIM:616149 SLC25A36 skos:exactMatch hgnc.symbol:SLC25A36 semapv:UnspecifiedMatching OMIM:616149 SLC25A36 skos:exactMatch ncbigene:55186 semapv:UnspecifiedMatching -OMIM:616150 SLC25A48 skos:exactMatch hgnc:SLC25A48 semapv:UnspecifiedMatching +OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:30451 semapv:UnspecifiedMatching +OMIM:616150 SLC25A48 skos:exactMatch hgnc.symbol:SLC25A48 semapv:UnspecifiedMatching OMIM:616150 SLC25A48 skos:exactMatch ncbigene:153328 semapv:UnspecifiedMatching -OMIM:616153 SLC25A52 skos:exactMatch hgnc:SLC25A52 semapv:UnspecifiedMatching +OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:23324 semapv:UnspecifiedMatching +OMIM:616153 SLC25A52 skos:exactMatch hgnc.symbol:SLC25A52 semapv:UnspecifiedMatching OMIM:616153 SLC25A52 skos:exactMatch ncbigene:147407 semapv:UnspecifiedMatching -OMIM:616156 FAR2 skos:exactMatch hgnc:FAR2 semapv:UnspecifiedMatching +OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:25531 semapv:UnspecifiedMatching +OMIM:616156 FAR2 skos:exactMatch hgnc.symbol:FAR2 semapv:UnspecifiedMatching OMIM:616156 FAR2 skos:exactMatch ncbigene:55711 semapv:UnspecifiedMatching -OMIM:616157 DHRS13 skos:exactMatch hgnc:DHRS13 semapv:UnspecifiedMatching +OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:28326 semapv:UnspecifiedMatching +OMIM:616157 DHRS13 skos:exactMatch hgnc.symbol:DHRS13 semapv:UnspecifiedMatching OMIM:616157 DHRS13 skos:exactMatch ncbigene:147015 semapv:UnspecifiedMatching -OMIM:616159 DHRS11 skos:exactMatch hgnc:DHRS11 semapv:UnspecifiedMatching +OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:28639 semapv:UnspecifiedMatching +OMIM:616159 DHRS11 skos:exactMatch hgnc.symbol:DHRS11 semapv:UnspecifiedMatching OMIM:616159 DHRS11 skos:exactMatch ncbigene:79154 semapv:UnspecifiedMatching -OMIM:616160 DHRS7B skos:exactMatch hgnc:DHRS7B semapv:UnspecifiedMatching +OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:24547 semapv:UnspecifiedMatching +OMIM:616160 DHRS7B skos:exactMatch hgnc.symbol:DHRS7B semapv:UnspecifiedMatching OMIM:616160 DHRS7B skos:exactMatch ncbigene:25979 semapv:UnspecifiedMatching -OMIM:616161 DHRS7C skos:exactMatch hgnc:DHRS7C semapv:UnspecifiedMatching +OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:32423 semapv:UnspecifiedMatching +OMIM:616161 DHRS7C skos:exactMatch hgnc.symbol:DHRS7C semapv:UnspecifiedMatching OMIM:616161 DHRS7C skos:exactMatch ncbigene:201140 semapv:UnspecifiedMatching -OMIM:616162 SDR39U1 skos:exactMatch hgnc:SDR39U1 semapv:UnspecifiedMatching +OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:20275 semapv:UnspecifiedMatching +OMIM:616162 SDR39U1 skos:exactMatch hgnc.symbol:SDR39U1 semapv:UnspecifiedMatching OMIM:616162 SDR39U1 skos:exactMatch ncbigene:56948 semapv:UnspecifiedMatching -OMIM:616163 DHRS12 skos:exactMatch hgnc:DHRS12 semapv:UnspecifiedMatching +OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:25832 semapv:UnspecifiedMatching +OMIM:616163 DHRS12 skos:exactMatch hgnc.symbol:DHRS12 semapv:UnspecifiedMatching OMIM:616163 DHRS12 skos:exactMatch ncbigene:79758 semapv:UnspecifiedMatching -OMIM:616164 SDR42E1 skos:exactMatch hgnc:SDR42E1 semapv:UnspecifiedMatching +OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:29834 semapv:UnspecifiedMatching +OMIM:616164 SDR42E1 skos:exactMatch hgnc.symbol:SDR42E1 semapv:UnspecifiedMatching OMIM:616164 SDR42E1 skos:exactMatch ncbigene:93517 semapv:UnspecifiedMatching -OMIM:616167 DCUN1D3 skos:exactMatch hgnc:DCUN1D3 semapv:UnspecifiedMatching +OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:28734 semapv:UnspecifiedMatching +OMIM:616167 DCUN1D3 skos:exactMatch hgnc.symbol:DCUN1D3 semapv:UnspecifiedMatching OMIM:616167 DCUN1D3 skos:exactMatch ncbigene:123879 semapv:UnspecifiedMatching OMIM:616168 TOMM6 skos:exactMatch UMLS:C2680495 semapv:UnspecifiedMatching -OMIM:616168 TOMM6 skos:exactMatch hgnc:TOMM6 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:34528 semapv:UnspecifiedMatching +OMIM:616168 TOMM6 skos:exactMatch hgnc.symbol:TOMM6 semapv:UnspecifiedMatching OMIM:616168 TOMM6 skos:exactMatch ncbigene:100188893 semapv:UnspecifiedMatching OMIM:616169 TOMM5 skos:exactMatch UMLS:C1538341 semapv:UnspecifiedMatching -OMIM:616169 TOMM5 skos:exactMatch hgnc:TOMM5 semapv:UnspecifiedMatching +OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:31369 semapv:UnspecifiedMatching +OMIM:616169 TOMM5 skos:exactMatch hgnc.symbol:TOMM5 semapv:UnspecifiedMatching OMIM:616169 TOMM5 skos:exactMatch ncbigene:401505 semapv:UnspecifiedMatching -OMIM:616173 NSRP1 skos:exactMatch hgnc:NSRP1 semapv:UnspecifiedMatching +OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:25305 semapv:UnspecifiedMatching +OMIM:616173 NSRP1 skos:exactMatch hgnc.symbol:NSRP1 semapv:UnspecifiedMatching OMIM:616173 NSRP1 skos:exactMatch ncbigene:84081 semapv:UnspecifiedMatching -OMIM:616174 CKAP2L skos:exactMatch hgnc:CKAP2L semapv:UnspecifiedMatching +OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:26877 semapv:UnspecifiedMatching +OMIM:616174 CKAP2L skos:exactMatch hgnc.symbol:CKAP2L semapv:UnspecifiedMatching OMIM:616174 CKAP2L skos:exactMatch ncbigene:150468 semapv:UnspecifiedMatching OMIM:616175 UBE2J1 skos:exactMatch UMLS:C1425009 semapv:UnspecifiedMatching -OMIM:616175 UBE2J1 skos:exactMatch hgnc:UBE2J1 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:17598 semapv:UnspecifiedMatching +OMIM:616175 UBE2J1 skos:exactMatch hgnc.symbol:UBE2J1 semapv:UnspecifiedMatching OMIM:616175 UBE2J1 skos:exactMatch ncbigene:51465 semapv:UnspecifiedMatching -OMIM:616177 DDRGK1 skos:exactMatch hgnc:DDRGK1 semapv:UnspecifiedMatching +OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:16110 semapv:UnspecifiedMatching +OMIM:616177 DDRGK1 skos:exactMatch hgnc.symbol:DDRGK1 semapv:UnspecifiedMatching OMIM:616177 DDRGK1 skos:exactMatch ncbigene:65992 semapv:UnspecifiedMatching OMIM:616178 TMEM132E skos:exactMatch UMLS:C1823395 semapv:UnspecifiedMatching OMIM:616178 TMEM132E skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching -OMIM:616178 TMEM132E skos:exactMatch hgnc:TMEM132E semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:26991 semapv:UnspecifiedMatching +OMIM:616178 TMEM132E skos:exactMatch hgnc.symbol:TMEM132E semapv:UnspecifiedMatching OMIM:616178 TMEM132E skos:exactMatch ncbigene:124842 semapv:UnspecifiedMatching -OMIM:616179 TXNDC16 skos:exactMatch hgnc:TXNDC16 semapv:UnspecifiedMatching +OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:19965 semapv:UnspecifiedMatching +OMIM:616179 TXNDC16 skos:exactMatch hgnc.symbol:TXNDC16 semapv:UnspecifiedMatching OMIM:616179 TXNDC16 skos:exactMatch ncbigene:57544 semapv:UnspecifiedMatching -OMIM:616180 GOLGA8A skos:exactMatch hgnc:GOLGA8A semapv:UnspecifiedMatching +OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:31972 semapv:UnspecifiedMatching +OMIM:616180 GOLGA8A skos:exactMatch hgnc.symbol:GOLGA8A semapv:UnspecifiedMatching OMIM:616180 GOLGA8A skos:exactMatch ncbigene:23015 semapv:UnspecifiedMatching -OMIM:616181 ZNF713 skos:exactMatch hgnc:ZNF713 semapv:UnspecifiedMatching +OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:22043 semapv:UnspecifiedMatching +OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:ZNF713 semapv:UnspecifiedMatching OMIM:616181 ZNF713 skos:exactMatch ncbigene:349075 semapv:UnspecifiedMatching -OMIM:616183 TMEM107 skos:exactMatch hgnc:TMEM107 semapv:UnspecifiedMatching +OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:28128 semapv:UnspecifiedMatching +OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:TMEM107 semapv:UnspecifiedMatching OMIM:616183 TMEM107 skos:exactMatch ncbigene:84314 semapv:UnspecifiedMatching -OMIM:616184 CLUH skos:exactMatch hgnc:CLUH semapv:UnspecifiedMatching +OMIM:616184 CLUH skos:exactMatch hgnc.symbol:29094 semapv:UnspecifiedMatching +OMIM:616184 CLUH skos:exactMatch hgnc.symbol:CLUH semapv:UnspecifiedMatching OMIM:616184 CLUH skos:exactMatch ncbigene:23277 semapv:UnspecifiedMatching OMIM:616186 h19/igf2-imprinting control region skos:exactMatch ncbigene:105259599 semapv:UnspecifiedMatching -OMIM:616189 CMTR1 skos:exactMatch hgnc:CMTR1 semapv:UnspecifiedMatching +OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:21077 semapv:UnspecifiedMatching +OMIM:616189 CMTR1 skos:exactMatch hgnc.symbol:CMTR1 semapv:UnspecifiedMatching OMIM:616189 CMTR1 skos:exactMatch ncbigene:23070 semapv:UnspecifiedMatching -OMIM:616190 CMTR2 skos:exactMatch hgnc:CMTR2 semapv:UnspecifiedMatching +OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:25635 semapv:UnspecifiedMatching +OMIM:616190 CMTR2 skos:exactMatch hgnc.symbol:CMTR2 semapv:UnspecifiedMatching OMIM:616190 CMTR2 skos:exactMatch ncbigene:55783 semapv:UnspecifiedMatching -OMIM:616191 DLGAP4 skos:exactMatch hgnc:DLGAP4 semapv:UnspecifiedMatching +OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:24476 semapv:UnspecifiedMatching +OMIM:616191 DLGAP4 skos:exactMatch hgnc.symbol:DLGAP4 semapv:UnspecifiedMatching OMIM:616191 DLGAP4 skos:exactMatch ncbigene:22839 semapv:UnspecifiedMatching -OMIM:616194 UTP15 skos:exactMatch hgnc:UTP15 semapv:UnspecifiedMatching +OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:25758 semapv:UnspecifiedMatching +OMIM:616194 UTP15 skos:exactMatch hgnc.symbol:UTP15 semapv:UnspecifiedMatching OMIM:616194 UTP15 skos:exactMatch ncbigene:84135 semapv:UnspecifiedMatching -OMIM:616195 WDR43 skos:exactMatch hgnc:WDR43 semapv:UnspecifiedMatching +OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:28945 semapv:UnspecifiedMatching +OMIM:616195 WDR43 skos:exactMatch hgnc.symbol:WDR43 semapv:UnspecifiedMatching OMIM:616195 WDR43 skos:exactMatch ncbigene:23160 semapv:UnspecifiedMatching -OMIM:616196 DCAF13 skos:exactMatch hgnc:DCAF13 semapv:UnspecifiedMatching +OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:24535 semapv:UnspecifiedMatching +OMIM:616196 DCAF13 skos:exactMatch hgnc.symbol:DCAF13 semapv:UnspecifiedMatching OMIM:616196 DCAF13 skos:exactMatch ncbigene:25879 semapv:UnspecifiedMatching -OMIM:616197 NOL10 skos:exactMatch hgnc:NOL10 semapv:UnspecifiedMatching +OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:25862 semapv:UnspecifiedMatching +OMIM:616197 NOL10 skos:exactMatch hgnc.symbol:NOL10 semapv:UnspecifiedMatching OMIM:616197 NOL10 skos:exactMatch ncbigene:79954 semapv:UnspecifiedMatching -OMIM:616203 SLC38A9 skos:exactMatch hgnc:SLC38A9 semapv:UnspecifiedMatching +OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:26907 semapv:UnspecifiedMatching +OMIM:616203 SLC38A9 skos:exactMatch hgnc.symbol:SLC38A9 semapv:UnspecifiedMatching OMIM:616203 SLC38A9 skos:exactMatch ncbigene:153129 semapv:UnspecifiedMatching -OMIM:616205 MIR648 skos:exactMatch hgnc:MIR648 semapv:UnspecifiedMatching +OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:32904 semapv:UnspecifiedMatching +OMIM:616205 MIR648 skos:exactMatch hgnc.symbol:MIR648 semapv:UnspecifiedMatching OMIM:616205 MIR648 skos:exactMatch ncbigene:693233 semapv:UnspecifiedMatching -OMIM:616206 NBAT1 skos:exactMatch hgnc:NBAT1 semapv:UnspecifiedMatching +OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:49075 semapv:UnspecifiedMatching +OMIM:616206 NBAT1 skos:exactMatch hgnc.symbol:NBAT1 semapv:UnspecifiedMatching OMIM:616206 NBAT1 skos:exactMatch ncbigene:729177 semapv:UnspecifiedMatching -OMIM:616207 NRAV skos:exactMatch hgnc:NRAV semapv:UnspecifiedMatching +OMIM:616207 NRAV skos:exactMatch hgnc.symbol:48588 semapv:UnspecifiedMatching +OMIM:616207 NRAV skos:exactMatch hgnc.symbol:NRAV semapv:UnspecifiedMatching OMIM:616207 NRAV skos:exactMatch ncbigene:100506668 semapv:UnspecifiedMatching -OMIM:616210 C4ORF46 skos:exactMatch hgnc:C4orf46 semapv:UnspecifiedMatching +OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:27320 semapv:UnspecifiedMatching +OMIM:616210 C4ORF46 skos:exactMatch hgnc.symbol:C4orf46 semapv:UnspecifiedMatching OMIM:616210 C4ORF46 skos:exactMatch ncbigene:201725 semapv:UnspecifiedMatching +OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch UMLS:C4015519 semapv:UnspecifiedMatching -OMIM:616211 developmental and epileptic encephalopathy 28 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:616213 ZNF292 skos:exactMatch hgnc:ZNF292 semapv:UnspecifiedMatching +OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:18410 semapv:UnspecifiedMatching +OMIM:616213 ZNF292 skos:exactMatch hgnc.symbol:ZNF292 semapv:UnspecifiedMatching OMIM:616213 ZNF292 skos:exactMatch ncbigene:23036 semapv:UnspecifiedMatching OMIM:616215 CREB3L1 skos:exactMatch UMLS:C1425827 semapv:UnspecifiedMatching OMIM:616215 CREB3L1 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching -OMIM:616215 CREB3L1 skos:exactMatch hgnc:CREB3L1 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:18856 semapv:UnspecifiedMatching +OMIM:616215 CREB3L1 skos:exactMatch hgnc.symbol:CREB3L1 semapv:UnspecifiedMatching OMIM:616215 CREB3L1 skos:exactMatch ncbigene:90993 semapv:UnspecifiedMatching -OMIM:616218 TBC1D13 skos:exactMatch hgnc:TBC1D13 semapv:UnspecifiedMatching +OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:25571 semapv:UnspecifiedMatching +OMIM:616218 TBC1D13 skos:exactMatch hgnc.symbol:TBC1D13 semapv:UnspecifiedMatching OMIM:616218 TBC1D13 skos:exactMatch ncbigene:54662 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254516 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254525 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:254531 semapv:UnspecifiedMatching +OMIM:616222 temple syndrome skos:exactMatch Orphanet:96184 semapv:UnspecifiedMatching OMIM:616222 temple syndrome skos:exactMatch UMLS:C4015558 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch orphanet.ordo:254516 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch orphanet.ordo:254525 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch orphanet.ordo:254531 semapv:UnspecifiedMatching -OMIM:616222 temple syndrome skos:exactMatch orphanet.ordo:96184 semapv:UnspecifiedMatching OMIM:616223 ANGPTL8 skos:exactMatch UMLS:C3469759 semapv:UnspecifiedMatching -OMIM:616223 ANGPTL8 skos:exactMatch hgnc:ANGPTL8 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:24933 semapv:UnspecifiedMatching +OMIM:616223 ANGPTL8 skos:exactMatch hgnc.symbol:ANGPTL8 semapv:UnspecifiedMatching OMIM:616223 ANGPTL8 skos:exactMatch ncbigene:55908 semapv:UnspecifiedMatching OMIM:616225 ATG2A skos:exactMatch UMLS:C2239907 semapv:UnspecifiedMatching -OMIM:616225 ATG2A skos:exactMatch hgnc:ATG2A semapv:UnspecifiedMatching +OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:29028 semapv:UnspecifiedMatching +OMIM:616225 ATG2A skos:exactMatch hgnc.symbol:ATG2A semapv:UnspecifiedMatching OMIM:616225 ATG2A skos:exactMatch ncbigene:23130 semapv:UnspecifiedMatching OMIM:616226 ATG2B skos:exactMatch UMLS:C1426760 semapv:UnspecifiedMatching -OMIM:616226 ATG2B skos:exactMatch hgnc:ATG2B semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:20187 semapv:UnspecifiedMatching +OMIM:616226 ATG2B skos:exactMatch hgnc.symbol:ATG2B semapv:UnspecifiedMatching OMIM:616226 ATG2B skos:exactMatch ncbigene:55102 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:216812 semapv:UnspecifiedMatching +OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch UMLS:C4015610 semapv:UnspecifiedMatching -OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch orphanet.ordo:216812 semapv:UnspecifiedMatching -OMIM:616229 osteogenesis imperfecta, iia 16 skos:exactMatch orphanet.ordo:666 semapv:UnspecifiedMatching -OMIM:616232 MEIKIN skos:exactMatch hgnc:MEIKIN semapv:UnspecifiedMatching +OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:51253 semapv:UnspecifiedMatching +OMIM:616232 MEIKIN skos:exactMatch hgnc.symbol:MEIKIN semapv:UnspecifiedMatching OMIM:616232 MEIKIN skos:exactMatch ncbigene:728637 semapv:UnspecifiedMatching -OMIM:616234 WDCP skos:exactMatch hgnc:WDCP semapv:UnspecifiedMatching +OMIM:616234 WDCP skos:exactMatch hgnc.symbol:26157 semapv:UnspecifiedMatching +OMIM:616234 WDCP skos:exactMatch hgnc.symbol:WDCP semapv:UnspecifiedMatching OMIM:616234 WDCP skos:exactMatch ncbigene:80304 semapv:UnspecifiedMatching -OMIM:616235 KATNBL1 skos:exactMatch hgnc:KATNBL1 semapv:UnspecifiedMatching +OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:26199 semapv:UnspecifiedMatching +OMIM:616235 KATNBL1 skos:exactMatch hgnc.symbol:KATNBL1 semapv:UnspecifiedMatching OMIM:616235 KATNBL1 skos:exactMatch ncbigene:79768 semapv:UnspecifiedMatching -OMIM:616236 CHADL skos:exactMatch hgnc:CHADL semapv:UnspecifiedMatching +OMIM:616236 CHADL skos:exactMatch hgnc.symbol:25165 semapv:UnspecifiedMatching +OMIM:616236 CHADL skos:exactMatch hgnc.symbol:CHADL semapv:UnspecifiedMatching OMIM:616236 CHADL skos:exactMatch ncbigene:150356 semapv:UnspecifiedMatching -OMIM:616237 KNDC1 skos:exactMatch hgnc:KNDC1 semapv:UnspecifiedMatching +OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:29374 semapv:UnspecifiedMatching +OMIM:616237 KNDC1 skos:exactMatch hgnc.symbol:KNDC1 semapv:UnspecifiedMatching OMIM:616237 KNDC1 skos:exactMatch ncbigene:85442 semapv:UnspecifiedMatching -OMIM:616238 ZBTB49 skos:exactMatch hgnc:ZBTB49 semapv:UnspecifiedMatching +OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:19883 semapv:UnspecifiedMatching +OMIM:616238 ZBTB49 skos:exactMatch hgnc.symbol:ZBTB49 semapv:UnspecifiedMatching OMIM:616238 ZBTB49 skos:exactMatch ncbigene:166793 semapv:UnspecifiedMatching -OMIM:616240 OLMALINC skos:exactMatch hgnc:OLMALINC semapv:UnspecifiedMatching +OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:28060 semapv:UnspecifiedMatching +OMIM:616240 OLMALINC skos:exactMatch hgnc.symbol:OLMALINC semapv:UnspecifiedMatching OMIM:616240 OLMALINC skos:exactMatch ncbigene:90271 semapv:UnspecifiedMatching -OMIM:616241 METRNL skos:exactMatch hgnc:METRNL semapv:UnspecifiedMatching +OMIM:616241 METRNL skos:exactMatch hgnc.symbol:27584 semapv:UnspecifiedMatching +OMIM:616241 METRNL skos:exactMatch hgnc.symbol:METRNL semapv:UnspecifiedMatching OMIM:616241 METRNL skos:exactMatch ncbigene:284207 semapv:UnspecifiedMatching -OMIM:616242 TMCC1 skos:exactMatch hgnc:TMCC1 semapv:UnspecifiedMatching +OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:29116 semapv:UnspecifiedMatching +OMIM:616242 TMCC1 skos:exactMatch hgnc.symbol:TMCC1 semapv:UnspecifiedMatching OMIM:616242 TMCC1 skos:exactMatch ncbigene:23023 semapv:UnspecifiedMatching -OMIM:616243 TMEM131L skos:exactMatch hgnc:TMEM131L semapv:UnspecifiedMatching +OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:29146 semapv:UnspecifiedMatching +OMIM:616243 TMEM131L skos:exactMatch hgnc.symbol:TMEM131L semapv:UnspecifiedMatching OMIM:616243 TMEM131L skos:exactMatch ncbigene:23240 semapv:UnspecifiedMatching -OMIM:616244 CHCHD2 skos:exactMatch hgnc:CHCHD2 semapv:UnspecifiedMatching +OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:21645 semapv:UnspecifiedMatching +OMIM:616244 CHCHD2 skos:exactMatch hgnc.symbol:CHCHD2 semapv:UnspecifiedMatching OMIM:616244 CHCHD2 skos:exactMatch ncbigene:51142 semapv:UnspecifiedMatching -OMIM:616245 EMC4 skos:exactMatch hgnc:EMC4 semapv:UnspecifiedMatching +OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:28032 semapv:UnspecifiedMatching +OMIM:616245 EMC4 skos:exactMatch hgnc.symbol:EMC4 semapv:UnspecifiedMatching OMIM:616245 EMC4 skos:exactMatch ncbigene:51234 semapv:UnspecifiedMatching -OMIM:616246 MRLN skos:exactMatch hgnc:MRLN semapv:UnspecifiedMatching +OMIM:616246 MRLN skos:exactMatch hgnc.symbol:48649 semapv:UnspecifiedMatching +OMIM:616246 MRLN skos:exactMatch hgnc.symbol:MRLN semapv:UnspecifiedMatching OMIM:616246 MRLN skos:exactMatch ncbigene:100507027 semapv:UnspecifiedMatching +OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +OMIM:616247 long qt syndrome 14 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching OMIM:616247 long qt syndrome 14 skos:exactMatch UMLS:C4015671 semapv:UnspecifiedMatching -OMIM:616247 long qt syndrome 14 skos:exactMatch orphanet.ordo:101016 semapv:UnspecifiedMatching -OMIM:616247 long qt syndrome 14 skos:exactMatch orphanet.ordo:768 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:101016 semapv:UnspecifiedMatching +OMIM:616249 long qt syndrome 15 skos:exactMatch Orphanet:768 semapv:UnspecifiedMatching OMIM:616249 long qt syndrome 15 skos:exactMatch UMLS:C4015695 semapv:UnspecifiedMatching -OMIM:616249 long qt syndrome 15 skos:exactMatch orphanet.ordo:101016 semapv:UnspecifiedMatching -OMIM:616249 long qt syndrome 15 skos:exactMatch orphanet.ordo:768 semapv:UnspecifiedMatching -OMIM:616250 NWD1 skos:exactMatch hgnc:NWD1 semapv:UnspecifiedMatching +OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:27619 semapv:UnspecifiedMatching +OMIM:616250 NWD1 skos:exactMatch hgnc.symbol:NWD1 semapv:UnspecifiedMatching OMIM:616250 NWD1 skos:exactMatch ncbigene:284434 semapv:UnspecifiedMatching -OMIM:616251 TCAF1 skos:exactMatch hgnc:TCAF1 semapv:UnspecifiedMatching +OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:22201 semapv:UnspecifiedMatching +OMIM:616251 TCAF1 skos:exactMatch hgnc.symbol:TCAF1 semapv:UnspecifiedMatching OMIM:616251 TCAF1 skos:exactMatch ncbigene:9747 semapv:UnspecifiedMatching -OMIM:616252 TCAF2 skos:exactMatch hgnc:TCAF2 semapv:UnspecifiedMatching +OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:26878 semapv:UnspecifiedMatching +OMIM:616252 TCAF2 skos:exactMatch hgnc.symbol:TCAF2 semapv:UnspecifiedMatching OMIM:616252 TCAF2 skos:exactMatch ncbigene:285966 semapv:UnspecifiedMatching OMIM:616253 GSX2 skos:exactMatch UMLS:C2239511 semapv:UnspecifiedMatching OMIM:616253 GSX2 skos:exactMatch UMLS:C5231440 semapv:UnspecifiedMatching -OMIM:616253 GSX2 skos:exactMatch hgnc:GSX2 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:24959 semapv:UnspecifiedMatching +OMIM:616253 GSX2 skos:exactMatch hgnc.symbol:GSX2 semapv:UnspecifiedMatching OMIM:616253 GSX2 skos:exactMatch ncbigene:170825 semapv:UnspecifiedMatching -OMIM:616254 CLPB skos:exactMatch hgnc:CLPB semapv:UnspecifiedMatching +OMIM:616254 CLPB skos:exactMatch hgnc.symbol:30664 semapv:UnspecifiedMatching +OMIM:616254 CLPB skos:exactMatch hgnc.symbol:CLPB semapv:UnspecifiedMatching OMIM:616254 CLPB skos:exactMatch ncbigene:81570 semapv:UnspecifiedMatching -OMIM:616256 CLEC4G skos:exactMatch hgnc:CLEC4G semapv:UnspecifiedMatching +OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:24591 semapv:UnspecifiedMatching +OMIM:616256 CLEC4G skos:exactMatch hgnc.symbol:CLEC4G semapv:UnspecifiedMatching OMIM:616256 CLEC4G skos:exactMatch ncbigene:339390 semapv:UnspecifiedMatching -OMIM:616257 FKBP9 skos:exactMatch hgnc:FKBP9 semapv:UnspecifiedMatching +OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:3725 semapv:UnspecifiedMatching +OMIM:616257 FKBP9 skos:exactMatch hgnc.symbol:FKBP9 semapv:UnspecifiedMatching OMIM:616257 FKBP9 skos:exactMatch ncbigene:11328 semapv:UnspecifiedMatching -OMIM:616259 SNHG14 skos:exactMatch hgnc:SNHG14 semapv:UnspecifiedMatching +OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:37462 semapv:UnspecifiedMatching +OMIM:616259 SNHG14 skos:exactMatch hgnc.symbol:SNHG14 semapv:UnspecifiedMatching OMIM:616259 SNHG14 skos:exactMatch ncbigene:104472715 semapv:UnspecifiedMatching -OMIM:616261 PUS7 skos:exactMatch hgnc:PUS7 semapv:UnspecifiedMatching +OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:26033 semapv:UnspecifiedMatching +OMIM:616261 PUS7 skos:exactMatch hgnc.symbol:PUS7 semapv:UnspecifiedMatching OMIM:616261 PUS7 skos:exactMatch ncbigene:54517 semapv:UnspecifiedMatching -OMIM:616262 KLHL21 skos:exactMatch hgnc:KLHL21 semapv:UnspecifiedMatching +OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:29041 semapv:UnspecifiedMatching +OMIM:616262 KLHL21 skos:exactMatch hgnc.symbol:KLHL21 semapv:UnspecifiedMatching OMIM:616262 KLHL21 skos:exactMatch ncbigene:9903 semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch UMLS:C3891017 semapv:UnspecifiedMatching -OMIM:616264 MAFTRR skos:exactMatch hgnc:MAFTRR semapv:UnspecifiedMatching +OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:51525 semapv:UnspecifiedMatching +OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:MAFTRR semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch ncbigene:102467146 semapv:UnspecifiedMatching +OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch UMLS:C4225397 semapv:UnspecifiedMatching -OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch orphanet.ordo:459033 semapv:UnspecifiedMatching +OMIM:616268 arboleda-tham syndrome skos:exactMatch Orphanet:457193 semapv:UnspecifiedMatching OMIM:616268 arboleda-tham syndrome skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching -OMIM:616268 arboleda-tham syndrome skos:exactMatch orphanet.ordo:457193 semapv:UnspecifiedMatching -OMIM:616272 MIR520G skos:exactMatch hgnc:MIR520G semapv:UnspecifiedMatching +OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:32116 semapv:UnspecifiedMatching +OMIM:616272 MIR520G skos:exactMatch hgnc.symbol:MIR520G semapv:UnspecifiedMatching OMIM:616272 MIR520G skos:exactMatch ncbigene:574484 semapv:UnspecifiedMatching -OMIM:616273 PCAT29 skos:exactMatch hgnc:PCAT29 semapv:UnspecifiedMatching +OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:50895 semapv:UnspecifiedMatching +OMIM:616273 PCAT29 skos:exactMatch hgnc.symbol:PCAT29 semapv:UnspecifiedMatching OMIM:616273 PCAT29 skos:exactMatch ncbigene:104472713 semapv:UnspecifiedMatching -OMIM:616274 MIR4276 skos:exactMatch hgnc:MIR4276 semapv:UnspecifiedMatching +OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:38232 semapv:UnspecifiedMatching +OMIM:616274 MIR4276 skos:exactMatch hgnc.symbol:MIR4276 semapv:UnspecifiedMatching OMIM:616274 MIR4276 skos:exactMatch ncbigene:100423042 semapv:UnspecifiedMatching -OMIM:616275 FAM136A skos:exactMatch hgnc:FAM136A semapv:UnspecifiedMatching +OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:25911 semapv:UnspecifiedMatching +OMIM:616275 FAM136A skos:exactMatch hgnc.symbol:FAM136A semapv:UnspecifiedMatching OMIM:616275 FAM136A skos:exactMatch ncbigene:84908 semapv:UnspecifiedMatching +OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching -OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency skos:exactMatch orphanet.ordo:255241 semapv:UnspecifiedMatching +OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch Orphanet:477673 semapv:UnspecifiedMatching OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching -OMIM:616281 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch orphanet.ordo:477673 semapv:UnspecifiedMatching +OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch Orphanet:444099 semapv:UnspecifiedMatching OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch UMLS:C4225387 semapv:UnspecifiedMatching -OMIM:616282 spastic paraplegia 73, autosomal dominant skos:exactMatch orphanet.ordo:444099 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch UMLS:C1538753 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching -OMIM:616283 PUS3 skos:exactMatch hgnc:PUS3 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:25461 semapv:UnspecifiedMatching +OMIM:616283 PUS3 skos:exactMatch hgnc.symbol:PUS3 semapv:UnspecifiedMatching OMIM:616283 PUS3 skos:exactMatch ncbigene:83480 semapv:UnspecifiedMatching -OMIM:616284 FLG2 skos:exactMatch hgnc:FLG2 semapv:UnspecifiedMatching +OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:33276 semapv:UnspecifiedMatching +OMIM:616284 FLG2 skos:exactMatch hgnc.symbol:FLG2 semapv:UnspecifiedMatching OMIM:616284 FLG2 skos:exactMatch ncbigene:388698 semapv:UnspecifiedMatching -OMIM:616285 FMNL2 skos:exactMatch hgnc:FMNL2 semapv:UnspecifiedMatching +OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:18267 semapv:UnspecifiedMatching +OMIM:616285 FMNL2 skos:exactMatch hgnc.symbol:FMNL2 semapv:UnspecifiedMatching OMIM:616285 FMNL2 skos:exactMatch ncbigene:114793 semapv:UnspecifiedMatching -OMIM:616288 FMNL3 skos:exactMatch hgnc:FMNL3 semapv:UnspecifiedMatching +OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:23698 semapv:UnspecifiedMatching +OMIM:616288 FMNL3 skos:exactMatch hgnc.symbol:FMNL3 semapv:UnspecifiedMatching OMIM:616288 FMNL3 skos:exactMatch ncbigene:91010 semapv:UnspecifiedMatching +OMIM:616289 optic atrophy 9 skos:exactMatch Orphanet:98676 semapv:UnspecifiedMatching OMIM:616289 optic atrophy 9 skos:exactMatch UMLS:C4225384 semapv:UnspecifiedMatching -OMIM:616289 optic atrophy 9 skos:exactMatch orphanet.ordo:98676 semapv:UnspecifiedMatching -OMIM:616290 ZNF658 skos:exactMatch hgnc:ZNF658 semapv:UnspecifiedMatching +OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:25226 semapv:UnspecifiedMatching +OMIM:616290 ZNF658 skos:exactMatch hgnc.symbol:ZNF658 semapv:UnspecifiedMatching OMIM:616290 ZNF658 skos:exactMatch ncbigene:26149 semapv:UnspecifiedMatching +OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch Orphanet:448251 semapv:UnspecifiedMatching OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch UMLS:C4225383 semapv:UnspecifiedMatching -OMIM:616291 lichtenstein-knorr syndrome skos:exactMatch orphanet.ordo:448251 semapv:UnspecifiedMatching -OMIM:616292 SAXO1 skos:exactMatch hgnc:SAXO1 semapv:UnspecifiedMatching +OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:28566 semapv:UnspecifiedMatching +OMIM:616292 SAXO1 skos:exactMatch hgnc.symbol:SAXO1 semapv:UnspecifiedMatching OMIM:616292 SAXO1 skos:exactMatch ncbigene:158297 semapv:UnspecifiedMatching -OMIM:616293 HRNR skos:exactMatch hgnc:HRNR semapv:UnspecifiedMatching +OMIM:616293 HRNR skos:exactMatch hgnc.symbol:20846 semapv:UnspecifiedMatching +OMIM:616293 HRNR skos:exactMatch hgnc.symbol:HRNR semapv:UnspecifiedMatching OMIM:616293 HRNR skos:exactMatch ncbigene:388697 semapv:UnspecifiedMatching +OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch Orphanet:2050 semapv:UnspecifiedMatching OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch UMLS:C4225382 semapv:UnspecifiedMatching -OMIM:616294 cole-carpenter syndrome 2 skos:exactMatch orphanet.ordo:2050 semapv:UnspecifiedMatching -OMIM:616296 MCTP1 skos:exactMatch hgnc:MCTP1 semapv:UnspecifiedMatching +OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:26183 semapv:UnspecifiedMatching +OMIM:616296 MCTP1 skos:exactMatch hgnc.symbol:MCTP1 semapv:UnspecifiedMatching OMIM:616296 MCTP1 skos:exactMatch ncbigene:79772 semapv:UnspecifiedMatching OMIM:616297 MCTP2 skos:exactMatch UMLS:C1825955 semapv:UnspecifiedMatching -OMIM:616297 MCTP2 skos:exactMatch hgnc:MCTP2 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:25636 semapv:UnspecifiedMatching +OMIM:616297 MCTP2 skos:exactMatch hgnc.symbol:MCTP2 semapv:UnspecifiedMatching OMIM:616297 MCTP2 skos:exactMatch ncbigene:55784 semapv:UnspecifiedMatching +OMIM:616298 singleton-merten syndrome 2 skos:exactMatch Orphanet:85191 semapv:UnspecifiedMatching OMIM:616298 singleton-merten syndrome 2 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching -OMIM:616298 singleton-merten syndrome 2 skos:exactMatch orphanet.ordo:85191 semapv:UnspecifiedMatching +OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch Orphanet:401862 semapv:UnspecifiedMatching OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch UMLS:C4225379 semapv:UnspecifiedMatching -OMIM:616299 lipoyltransferase 1 deficiency skos:exactMatch orphanet.ordo:401862 semapv:UnspecifiedMatching -OMIM:616301 CD300LD skos:exactMatch hgnc:CD300LD semapv:UnspecifiedMatching +OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:16848 semapv:UnspecifiedMatching +OMIM:616301 CD300LD skos:exactMatch hgnc.symbol:CD300LD semapv:UnspecifiedMatching OMIM:616301 CD300LD skos:exactMatch ncbigene:100131439 semapv:UnspecifiedMatching -OMIM:616302 FOXK1 skos:exactMatch hgnc:FOXK1 semapv:UnspecifiedMatching +OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:23480 semapv:UnspecifiedMatching +OMIM:616302 FOXK1 skos:exactMatch hgnc.symbol:FOXK1 semapv:UnspecifiedMatching OMIM:616302 FOXK1 skos:exactMatch ncbigene:221937 semapv:UnspecifiedMatching -OMIM:616303 WDR91 skos:exactMatch hgnc:WDR91 semapv:UnspecifiedMatching +OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:24997 semapv:UnspecifiedMatching +OMIM:616303 WDR91 skos:exactMatch hgnc.symbol:WDR91 semapv:UnspecifiedMatching OMIM:616303 WDR91 skos:exactMatch ncbigene:29062 semapv:UnspecifiedMatching -OMIM:616305 FRMD4A skos:exactMatch hgnc:FRMD4A semapv:UnspecifiedMatching +OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:25491 semapv:UnspecifiedMatching +OMIM:616305 FRMD4A skos:exactMatch hgnc.symbol:FRMD4A semapv:UnspecifiedMatching OMIM:616305 FRMD4A skos:exactMatch ncbigene:55691 semapv:UnspecifiedMatching -OMIM:616306 FSBP skos:exactMatch hgnc:FSBP semapv:UnspecifiedMatching +OMIM:616306 FSBP skos:exactMatch hgnc.symbol:43653 semapv:UnspecifiedMatching +OMIM:616306 FSBP skos:exactMatch hgnc.symbol:FSBP semapv:UnspecifiedMatching OMIM:616306 FSBP skos:exactMatch ncbigene:100861412 semapv:UnspecifiedMatching -OMIM:616308 BGLT3 skos:exactMatch hgnc:BGLT3 semapv:UnspecifiedMatching +OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:49033 semapv:UnspecifiedMatching +OMIM:616308 BGLT3 skos:exactMatch hgnc.symbol:BGLT3 semapv:UnspecifiedMatching OMIM:616308 BGLT3 skos:exactMatch ncbigene:103344929 semapv:UnspecifiedMatching -OMIM:616309 FRMD5 skos:exactMatch hgnc:FRMD5 semapv:UnspecifiedMatching +OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:28214 semapv:UnspecifiedMatching +OMIM:616309 FRMD5 skos:exactMatch hgnc.symbol:FRMD5 semapv:UnspecifiedMatching OMIM:616309 FRMD5 skos:exactMatch ncbigene:84978 semapv:UnspecifiedMatching OMIM:616310 ARHGAP11B skos:exactMatch UMLS:C1538923 semapv:UnspecifiedMatching -OMIM:616310 ARHGAP11B skos:exactMatch hgnc:ARHGAP11B semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:15782 semapv:UnspecifiedMatching +OMIM:616310 ARHGAP11B skos:exactMatch hgnc.symbol:ARHGAP11B semapv:UnspecifiedMatching OMIM:616310 ARHGAP11B skos:exactMatch ncbigene:89839 semapv:UnspecifiedMatching OMIM:616312 LEMD2 skos:exactMatch UMLS:C0220721 semapv:UnspecifiedMatching OMIM:616312 LEMD2 skos:exactMatch UMLS:C1427448 semapv:UnspecifiedMatching -OMIM:616312 LEMD2 skos:exactMatch hgnc:LEMD2 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:21244 semapv:UnspecifiedMatching +OMIM:616312 LEMD2 skos:exactMatch hgnc.symbol:LEMD2 semapv:UnspecifiedMatching OMIM:616312 LEMD2 skos:exactMatch ncbigene:221496 semapv:UnspecifiedMatching -OMIM:616315 PAXX skos:exactMatch hgnc:PAXX semapv:UnspecifiedMatching +OMIM:616315 PAXX skos:exactMatch hgnc.symbol:27849 semapv:UnspecifiedMatching +OMIM:616315 PAXX skos:exactMatch hgnc.symbol:PAXX semapv:UnspecifiedMatching OMIM:616315 PAXX skos:exactMatch ncbigene:286257 semapv:UnspecifiedMatching -OMIM:616316 FAM168A skos:exactMatch hgnc:FAM168A semapv:UnspecifiedMatching +OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:28999 semapv:UnspecifiedMatching +OMIM:616316 FAM168A skos:exactMatch hgnc.symbol:FAM168A semapv:UnspecifiedMatching OMIM:616316 FAM168A skos:exactMatch ncbigene:23201 semapv:UnspecifiedMatching -OMIM:616317 GDPD1 skos:exactMatch hgnc:GDPD1 semapv:UnspecifiedMatching +OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:20883 semapv:UnspecifiedMatching +OMIM:616317 GDPD1 skos:exactMatch hgnc.symbol:GDPD1 semapv:UnspecifiedMatching OMIM:616317 GDPD1 skos:exactMatch ncbigene:284161 semapv:UnspecifiedMatching -OMIM:616318 GDPD3 skos:exactMatch hgnc:GDPD3 semapv:UnspecifiedMatching +OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:28638 semapv:UnspecifiedMatching +OMIM:616318 GDPD3 skos:exactMatch hgnc.symbol:GDPD3 semapv:UnspecifiedMatching OMIM:616318 GDPD3 skos:exactMatch ncbigene:79153 semapv:UnspecifiedMatching -OMIM:616319 RNF138 skos:exactMatch hgnc:RNF138 semapv:UnspecifiedMatching +OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:17765 semapv:UnspecifiedMatching +OMIM:616319 RNF138 skos:exactMatch hgnc.symbol:RNF138 semapv:UnspecifiedMatching OMIM:616319 RNF138 skos:exactMatch ncbigene:51444 semapv:UnspecifiedMatching -OMIM:616320 FAHD1 skos:exactMatch hgnc:FAHD1 semapv:UnspecifiedMatching +OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:14169 semapv:UnspecifiedMatching +OMIM:616320 FAHD1 skos:exactMatch hgnc.symbol:FAHD1 semapv:UnspecifiedMatching OMIM:616320 FAHD1 skos:exactMatch ncbigene:81889 semapv:UnspecifiedMatching +OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Orphanet:590 semapv:UnspecifiedMatching +OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch UMLS:C4225371 semapv:UnspecifiedMatching -OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch orphanet.ordo:590 semapv:UnspecifiedMatching -OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel skos:exactMatch orphanet.ordo:98913 semapv:UnspecifiedMatching -OMIM:616327 CHAMP1 skos:exactMatch hgnc:CHAMP1 semapv:UnspecifiedMatching +OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:20311 semapv:UnspecifiedMatching +OMIM:616327 CHAMP1 skos:exactMatch hgnc.symbol:CHAMP1 semapv:UnspecifiedMatching OMIM:616327 CHAMP1 skos:exactMatch ncbigene:283489 semapv:UnspecifiedMatching OMIM:616328 long intergenic noncoding RNA pinky skos:exactMatch ncbigene:105447646 semapv:UnspecifiedMatching -OMIM:616332 ARMT1 skos:exactMatch hgnc:ARMT1 semapv:UnspecifiedMatching +OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:17872 semapv:UnspecifiedMatching +OMIM:616332 ARMT1 skos:exactMatch hgnc.symbol:ARMT1 semapv:UnspecifiedMatching OMIM:616332 ARMT1 skos:exactMatch ncbigene:79624 semapv:UnspecifiedMatching -OMIM:616333 WSPAR skos:exactMatch hgnc:WSPAR semapv:UnspecifiedMatching +OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:51639 semapv:UnspecifiedMatching +OMIM:616333 WSPAR skos:exactMatch hgnc.symbol:WSPAR semapv:UnspecifiedMatching OMIM:616333 WSPAR skos:exactMatch ncbigene:105664404 semapv:UnspecifiedMatching -OMIM:616334 TMEM100 skos:exactMatch hgnc:TMEM100 semapv:UnspecifiedMatching +OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:25607 semapv:UnspecifiedMatching +OMIM:616334 TMEM100 skos:exactMatch hgnc.symbol:TMEM100 semapv:UnspecifiedMatching OMIM:616334 TMEM100 skos:exactMatch ncbigene:55273 semapv:UnspecifiedMatching -OMIM:616336 AKR1B15 skos:exactMatch hgnc:AKR1B15 semapv:UnspecifiedMatching +OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:37281 semapv:UnspecifiedMatching +OMIM:616336 AKR1B15 skos:exactMatch hgnc.symbol:AKR1B15 semapv:UnspecifiedMatching OMIM:616336 AKR1B15 skos:exactMatch ncbigene:441282 semapv:UnspecifiedMatching -OMIM:616337 SOCS4 skos:exactMatch hgnc:SOCS4 semapv:UnspecifiedMatching +OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:19392 semapv:UnspecifiedMatching +OMIM:616337 SOCS4 skos:exactMatch hgnc.symbol:SOCS4 semapv:UnspecifiedMatching OMIM:616337 SOCS4 skos:exactMatch ncbigene:122809 semapv:UnspecifiedMatching -OMIM:616338 SOX2OT skos:exactMatch hgnc:SOX2-OT semapv:UnspecifiedMatching +OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:20209 semapv:UnspecifiedMatching +OMIM:616338 SOX2OT skos:exactMatch hgnc.symbol:SOX2-OT semapv:UnspecifiedMatching OMIM:616338 SOX2OT skos:exactMatch ncbigene:347689 semapv:UnspecifiedMatching +OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch UMLS:C4225361 semapv:UnspecifiedMatching -OMIM:616339 developmental and epileptic encephalopathy 29 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch UMLS:C4084712 semapv:UnspecifiedMatching -OMIM:616340 deafness, autosomal dominant 67 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch UMLS:C4225360 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch orphanet.ordo:1935 semapv:UnspecifiedMatching -OMIM:616341 developmental and epileptic encephalopathy 30 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching OMIM:616343 TP53COR1 skos:exactMatch UMLS:C4085705 semapv:UnspecifiedMatching -OMIM:616343 TP53COR1 skos:exactMatch hgnc:TP53COR1 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:43652 semapv:UnspecifiedMatching +OMIM:616343 TP53COR1 skos:exactMatch hgnc.symbol:TP53COR1 semapv:UnspecifiedMatching OMIM:616343 TP53COR1 skos:exactMatch ncbigene:102800311 semapv:UnspecifiedMatching -OMIM:616344 TTC23L skos:exactMatch hgnc:TTC23L semapv:UnspecifiedMatching +OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:26355 semapv:UnspecifiedMatching +OMIM:616344 TTC23L skos:exactMatch hgnc.symbol:TTC23L semapv:UnspecifiedMatching OMIM:616344 TTC23L skos:exactMatch ncbigene:153657 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching +OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch UMLS:C4225357 semapv:UnspecifiedMatching -OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch orphanet.ordo:2382 semapv:UnspecifiedMatching -OMIM:616346 developmental and epileptic encephalopathy 31a skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:616347 PRDM11 skos:exactMatch hgnc:PRDM11 semapv:UnspecifiedMatching +OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:13996 semapv:UnspecifiedMatching +OMIM:616347 PRDM11 skos:exactMatch hgnc.symbol:PRDM11 semapv:UnspecifiedMatching OMIM:616347 PRDM11 skos:exactMatch ncbigene:56981 semapv:UnspecifiedMatching -OMIM:616348 ZNF695 skos:exactMatch hgnc:ZNF695 semapv:UnspecifiedMatching +OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:30954 semapv:UnspecifiedMatching +OMIM:616348 ZNF695 skos:exactMatch hgnc.symbol:ZNF695 semapv:UnspecifiedMatching OMIM:616348 ZNF695 skos:exactMatch ncbigene:57116 semapv:UnspecifiedMatching -OMIM:616349 SORBS2 skos:exactMatch hgnc:SORBS2 semapv:UnspecifiedMatching +OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:24098 semapv:UnspecifiedMatching +OMIM:616349 SORBS2 skos:exactMatch hgnc.symbol:SORBS2 semapv:UnspecifiedMatching OMIM:616349 SORBS2 skos:exactMatch ncbigene:8470 semapv:UnspecifiedMatching -OMIM:616350 PARTICL skos:exactMatch hgnc:PARTICL semapv:UnspecifiedMatching +OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:50886 semapv:UnspecifiedMatching +OMIM:616350 PARTICL skos:exactMatch hgnc.symbol:PARTICL semapv:UnspecifiedMatching OMIM:616350 PARTICL skos:exactMatch ncbigene:100630918 semapv:UnspecifiedMatching -OMIM:616352 ACBD6 skos:exactMatch hgnc:ACBD6 semapv:UnspecifiedMatching +OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:23339 semapv:UnspecifiedMatching +OMIM:616352 ACBD6 skos:exactMatch hgnc.symbol:ACBD6 semapv:UnspecifiedMatching OMIM:616352 ACBD6 skos:exactMatch ncbigene:84320 semapv:UnspecifiedMatching +OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch Orphanet:397709 semapv:UnspecifiedMatching OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch UMLS:C4225355 semapv:UnspecifiedMatching -OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 skos:exactMatch orphanet.ordo:397709 semapv:UnspecifiedMatching -OMIM:616356 MIR31HG skos:exactMatch hgnc:MIR31HG semapv:UnspecifiedMatching +OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:37187 semapv:UnspecifiedMatching +OMIM:616356 MIR31HG skos:exactMatch hgnc.symbol:MIR31HG semapv:UnspecifiedMatching OMIM:616356 MIR31HG skos:exactMatch ncbigene:554202 semapv:UnspecifiedMatching -OMIM:616358 MIR379 skos:exactMatch hgnc:MIR379 semapv:UnspecifiedMatching +OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:31872 semapv:UnspecifiedMatching +OMIM:616358 MIR379 skos:exactMatch hgnc.symbol:MIR379 semapv:UnspecifiedMatching OMIM:616358 MIR379 skos:exactMatch ncbigene:494328 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch UMLS:C1824777 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching -OMIM:616359 COQ5 skos:exactMatch hgnc:COQ5 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:28722 semapv:UnspecifiedMatching +OMIM:616359 COQ5 skos:exactMatch hgnc.symbol:COQ5 semapv:UnspecifiedMatching OMIM:616359 COQ5 skos:exactMatch ncbigene:84274 semapv:UnspecifiedMatching -OMIM:616360 TMEM135 skos:exactMatch hgnc:TMEM135 semapv:UnspecifiedMatching +OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:26167 semapv:UnspecifiedMatching +OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:TMEM135 semapv:UnspecifiedMatching OMIM:616360 TMEM135 skos:exactMatch ncbigene:65084 semapv:UnspecifiedMatching -OMIM:616363 SPRR4 skos:exactMatch hgnc:SPRR4 semapv:UnspecifiedMatching +OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:23173 semapv:UnspecifiedMatching +OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:SPRR4 semapv:UnspecifiedMatching OMIM:616363 SPRR4 skos:exactMatch ncbigene:163778 semapv:UnspecifiedMatching OMIM:616365 SCYL2 skos:exactMatch UMLS:C1539735 semapv:UnspecifiedMatching OMIM:616365 SCYL2 skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching -OMIM:616365 SCYL2 skos:exactMatch hgnc:SCYL2 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:19286 semapv:UnspecifiedMatching +OMIM:616365 SCYL2 skos:exactMatch hgnc.symbol:SCYL2 semapv:UnspecifiedMatching OMIM:616365 SCYL2 skos:exactMatch ncbigene:55681 semapv:UnspecifiedMatching +OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch UMLS:C4225350 semapv:UnspecifiedMatching -OMIM:616366 developmental and epileptic encephalopathy 32 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:616372 DCAF4 skos:exactMatch hgnc:DCAF4 semapv:UnspecifiedMatching +OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:20229 semapv:UnspecifiedMatching +OMIM:616372 DCAF4 skos:exactMatch hgnc.symbol:DCAF4 semapv:UnspecifiedMatching OMIM:616372 DCAF4 skos:exactMatch ncbigene:26094 semapv:UnspecifiedMatching -OMIM:616374 BEND3 skos:exactMatch hgnc:BEND3 semapv:UnspecifiedMatching +OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:23040 semapv:UnspecifiedMatching +OMIM:616374 BEND3 skos:exactMatch hgnc.symbol:BEND3 semapv:UnspecifiedMatching OMIM:616374 BEND3 skos:exactMatch ncbigene:57673 semapv:UnspecifiedMatching -OMIM:616375 UNK skos:exactMatch hgnc:UNK semapv:UnspecifiedMatching +OMIM:616375 UNK skos:exactMatch hgnc.symbol:29369 semapv:UnspecifiedMatching +OMIM:616375 UNK skos:exactMatch hgnc.symbol:UNK semapv:UnspecifiedMatching OMIM:616375 UNK skos:exactMatch ncbigene:85451 semapv:UnspecifiedMatching -OMIM:616376 MIR656 skos:exactMatch hgnc:MIR656 semapv:UnspecifiedMatching +OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:32912 semapv:UnspecifiedMatching +OMIM:616376 MIR656 skos:exactMatch hgnc.symbol:MIR656 semapv:UnspecifiedMatching OMIM:616376 MIR656 skos:exactMatch ncbigene:724026 semapv:UnspecifiedMatching -OMIM:616377 PRODH2 skos:exactMatch hgnc:PRODH2 semapv:UnspecifiedMatching +OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:17325 semapv:UnspecifiedMatching +OMIM:616377 PRODH2 skos:exactMatch hgnc.symbol:PRODH2 semapv:UnspecifiedMatching OMIM:616377 PRODH2 skos:exactMatch ncbigene:58510 semapv:UnspecifiedMatching -OMIM:616378 UBXN1 skos:exactMatch hgnc:UBXN1 semapv:UnspecifiedMatching +OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:18402 semapv:UnspecifiedMatching +OMIM:616378 UBXN1 skos:exactMatch hgnc.symbol:UBXN1 semapv:UnspecifiedMatching OMIM:616378 UBXN1 skos:exactMatch ncbigene:51035 semapv:UnspecifiedMatching -OMIM:616379 UBXN7 skos:exactMatch hgnc:UBXN7 semapv:UnspecifiedMatching +OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:29119 semapv:UnspecifiedMatching +OMIM:616379 UBXN7 skos:exactMatch hgnc.symbol:UBXN7 semapv:UnspecifiedMatching OMIM:616379 UBXN7 skos:exactMatch ncbigene:26043 semapv:UnspecifiedMatching -OMIM:616380 LAMB4 skos:exactMatch hgnc:LAMB4 semapv:UnspecifiedMatching +OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:6491 semapv:UnspecifiedMatching +OMIM:616380 LAMB4 skos:exactMatch hgnc.symbol:LAMB4 semapv:UnspecifiedMatching OMIM:616380 LAMB4 skos:exactMatch ncbigene:22798 semapv:UnspecifiedMatching -OMIM:616381 ZCCHC8 skos:exactMatch hgnc:ZCCHC8 semapv:UnspecifiedMatching +OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:25265 semapv:UnspecifiedMatching +OMIM:616381 ZCCHC8 skos:exactMatch hgnc.symbol:ZCCHC8 semapv:UnspecifiedMatching OMIM:616381 ZCCHC8 skos:exactMatch ncbigene:55596 semapv:UnspecifiedMatching -OMIM:616382 UGT2A3 skos:exactMatch hgnc:UGT2A3 semapv:UnspecifiedMatching +OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:28528 semapv:UnspecifiedMatching +OMIM:616382 UGT2A3 skos:exactMatch hgnc.symbol:UGT2A3 semapv:UnspecifiedMatching OMIM:616382 UGT2A3 skos:exactMatch ncbigene:79799 semapv:UnspecifiedMatching -OMIM:616383 UGT3A1 skos:exactMatch hgnc:UGT3A1 semapv:UnspecifiedMatching +OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:26625 semapv:UnspecifiedMatching +OMIM:616383 UGT3A1 skos:exactMatch hgnc.symbol:UGT3A1 semapv:UnspecifiedMatching OMIM:616383 UGT3A1 skos:exactMatch ncbigene:133688 semapv:UnspecifiedMatching -OMIM:616384 UGT3A2 skos:exactMatch hgnc:UGT3A2 semapv:UnspecifiedMatching +OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:27266 semapv:UnspecifiedMatching +OMIM:616384 UGT3A2 skos:exactMatch hgnc.symbol:UGT3A2 semapv:UnspecifiedMatching OMIM:616384 UGT3A2 skos:exactMatch ncbigene:167127 semapv:UnspecifiedMatching -OMIM:616385 LINC01018 skos:exactMatch hgnc:LINC01018 semapv:UnspecifiedMatching +OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:27394 semapv:UnspecifiedMatching +OMIM:616385 LINC01018 skos:exactMatch hgnc.symbol:LINC01018 semapv:UnspecifiedMatching OMIM:616385 LINC01018 skos:exactMatch ncbigene:255167 semapv:UnspecifiedMatching -OMIM:616386 KCTD17 skos:exactMatch hgnc:KCTD17 semapv:UnspecifiedMatching +OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:25705 semapv:UnspecifiedMatching +OMIM:616386 KCTD17 skos:exactMatch hgnc.symbol:KCTD17 semapv:UnspecifiedMatching OMIM:616386 KCTD17 skos:exactMatch ncbigene:79734 semapv:UnspecifiedMatching -OMIM:616387 DRAIC skos:exactMatch hgnc:DRAIC semapv:UnspecifiedMatching +OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:27082 semapv:UnspecifiedMatching +OMIM:616387 DRAIC skos:exactMatch hgnc.symbol:DRAIC semapv:UnspecifiedMatching OMIM:616387 DRAIC skos:exactMatch ncbigene:145837 semapv:UnspecifiedMatching -OMIM:616388 UBTD1 skos:exactMatch hgnc:UBTD1 semapv:UnspecifiedMatching +OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:25683 semapv:UnspecifiedMatching +OMIM:616388 UBTD1 skos:exactMatch hgnc.symbol:UBTD1 semapv:UnspecifiedMatching OMIM:616388 UBTD1 skos:exactMatch ncbigene:80019 semapv:UnspecifiedMatching +OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch UMLS:C4225344 semapv:UnspecifiedMatching -OMIM:616390 trichothiodystrophy 2, photosensitive skos:exactMatch orphanet.ordo:33364 semapv:UnspecifiedMatching -OMIM:616391 RANBP3L skos:exactMatch hgnc:RANBP3L semapv:UnspecifiedMatching +OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:26353 semapv:UnspecifiedMatching +OMIM:616391 RANBP3L skos:exactMatch hgnc.symbol:RANBP3L semapv:UnspecifiedMatching OMIM:616391 RANBP3L skos:exactMatch ncbigene:202151 semapv:UnspecifiedMatching -OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc:SKINT1L semapv:UnspecifiedMatching +OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:33993 semapv:UnspecifiedMatching +OMIM:616392 skint1-like pseudogene skos:exactMatch hgnc.symbol:SKINT1L semapv:UnspecifiedMatching +OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch UMLS:C4225343 semapv:UnspecifiedMatching -OMIM:616393 intellectual developmental disorder, autosomal dominant 38 skos:exactMatch orphanet.ordo:178469 semapv:UnspecifiedMatching +OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch Orphanet:33364 semapv:UnspecifiedMatching OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch UMLS:C4017171 semapv:UnspecifiedMatching -OMIM:616395 trichothiodystrophy 3, photosensitive skos:exactMatch orphanet.ordo:33364 semapv:UnspecifiedMatching OMIM:616396 SCMH1 skos:exactMatch UMLS:C1425943 semapv:UnspecifiedMatching -OMIM:616396 SCMH1 skos:exactMatch hgnc:SCMH1 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:19003 semapv:UnspecifiedMatching +OMIM:616396 SCMH1 skos:exactMatch hgnc.symbol:SCMH1 semapv:UnspecifiedMatching OMIM:616396 SCMH1 skos:exactMatch ncbigene:22955 semapv:UnspecifiedMatching -OMIM:616397 PXMP4 skos:exactMatch hgnc:PXMP4 semapv:UnspecifiedMatching +OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:15920 semapv:UnspecifiedMatching +OMIM:616397 PXMP4 skos:exactMatch hgnc.symbol:PXMP4 semapv:UnspecifiedMatching OMIM:616397 PXMP4 skos:exactMatch ncbigene:11264 semapv:UnspecifiedMatching -OMIM:616401 SPDL1 skos:exactMatch hgnc:SPDL1 semapv:UnspecifiedMatching +OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:26010 semapv:UnspecifiedMatching +OMIM:616401 SPDL1 skos:exactMatch hgnc.symbol:SPDL1 semapv:UnspecifiedMatching OMIM:616401 SPDL1 skos:exactMatch ncbigene:54908 semapv:UnspecifiedMatching +OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching -OMIM:616402 microcephaly 14, primary, autosomal recessive skos:exactMatch orphanet.ordo:2512 semapv:UnspecifiedMatching -OMIM:616403 TP53TG1 skos:exactMatch hgnc:TP53TG1 semapv:UnspecifiedMatching +OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:17026 semapv:UnspecifiedMatching +OMIM:616403 TP53TG1 skos:exactMatch hgnc.symbol:TP53TG1 semapv:UnspecifiedMatching OMIM:616403 TP53TG1 skos:exactMatch ncbigene:11257 semapv:UnspecifiedMatching -OMIM:616404 POLR1A skos:exactMatch hgnc:POLR1A semapv:UnspecifiedMatching +OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:17264 semapv:UnspecifiedMatching +OMIM:616404 POLR1A skos:exactMatch hgnc.symbol:POLR1A semapv:UnspecifiedMatching OMIM:616404 POLR1A skos:exactMatch ncbigene:25885 semapv:UnspecifiedMatching -OMIM:616405 AAK1 skos:exactMatch hgnc:AAK1 semapv:UnspecifiedMatching +OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:19679 semapv:UnspecifiedMatching +OMIM:616405 AAK1 skos:exactMatch hgnc.symbol:AAK1 semapv:UnspecifiedMatching OMIM:616405 AAK1 skos:exactMatch ncbigene:22848 semapv:UnspecifiedMatching -OMIM:616406 PYCR2 skos:exactMatch hgnc:PYCR2 semapv:UnspecifiedMatching +OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:30262 semapv:UnspecifiedMatching +OMIM:616406 PYCR2 skos:exactMatch hgnc.symbol:PYCR2 semapv:UnspecifiedMatching OMIM:616406 PYCR2 skos:exactMatch ncbigene:29920 semapv:UnspecifiedMatching -OMIM:616408 PYCRL skos:exactMatch hgnc:PYCR3 semapv:UnspecifiedMatching +OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:25846 semapv:UnspecifiedMatching +OMIM:616408 PYCRL skos:exactMatch hgnc.symbol:PYCR3 semapv:UnspecifiedMatching OMIM:616408 PYCRL skos:exactMatch ncbigene:65263 semapv:UnspecifiedMatching +OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch UMLS:C4225337 semapv:UnspecifiedMatching -OMIM:616409 developmental and epileptic encephalopathy 33 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:616412 TXNDC5 skos:exactMatch hgnc:TXNDC5 semapv:UnspecifiedMatching +OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:21073 semapv:UnspecifiedMatching +OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:TXNDC5 semapv:UnspecifiedMatching OMIM:616412 TXNDC5 skos:exactMatch ncbigene:81567 semapv:UnspecifiedMatching -OMIM:616416 ADGRL1 skos:exactMatch hgnc:ADGRL1 semapv:UnspecifiedMatching +OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:20973 semapv:UnspecifiedMatching +OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:ADGRL1 semapv:UnspecifiedMatching OMIM:616416 ADGRL1 skos:exactMatch ncbigene:22859 semapv:UnspecifiedMatching -OMIM:616417 ADGRL3 skos:exactMatch hgnc:ADGRL3 semapv:UnspecifiedMatching +OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:20974 semapv:UnspecifiedMatching +OMIM:616417 ADGRL3 skos:exactMatch hgnc.symbol:ADGRL3 semapv:UnspecifiedMatching OMIM:616417 ADGRL3 skos:exactMatch ncbigene:23284 semapv:UnspecifiedMatching -OMIM:616419 ADGRL4 skos:exactMatch hgnc:ADGRL4 semapv:UnspecifiedMatching +OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:20822 semapv:UnspecifiedMatching +OMIM:616419 ADGRL4 skos:exactMatch hgnc.symbol:ADGRL4 semapv:UnspecifiedMatching OMIM:616419 ADGRL4 skos:exactMatch ncbigene:64123 semapv:UnspecifiedMatching -OMIM:616422 TEFM skos:exactMatch hgnc:TEFM semapv:UnspecifiedMatching +OMIM:616422 TEFM skos:exactMatch hgnc.symbol:26223 semapv:UnspecifiedMatching +OMIM:616422 TEFM skos:exactMatch hgnc.symbol:TEFM semapv:UnspecifiedMatching OMIM:616422 TEFM skos:exactMatch ncbigene:79736 semapv:UnspecifiedMatching OMIM:616423 DHX30 skos:exactMatch UMLS:C1424502 semapv:UnspecifiedMatching OMIM:616423 DHX30 skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching -OMIM:616423 DHX30 skos:exactMatch hgnc:DHX30 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:16716 semapv:UnspecifiedMatching +OMIM:616423 DHX30 skos:exactMatch hgnc.symbol:DHX30 semapv:UnspecifiedMatching OMIM:616423 DHX30 skos:exactMatch ncbigene:22907 semapv:UnspecifiedMatching -OMIM:616424 SETD6 skos:exactMatch hgnc:SETD6 semapv:UnspecifiedMatching +OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:26116 semapv:UnspecifiedMatching +OMIM:616424 SETD6 skos:exactMatch hgnc.symbol:SETD6 semapv:UnspecifiedMatching OMIM:616424 SETD6 skos:exactMatch ncbigene:79918 semapv:UnspecifiedMatching -OMIM:616426 CEP192 skos:exactMatch hgnc:CEP192 semapv:UnspecifiedMatching +OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:25515 semapv:UnspecifiedMatching +OMIM:616426 CEP192 skos:exactMatch hgnc.symbol:CEP192 semapv:UnspecifiedMatching OMIM:616426 CEP192 skos:exactMatch ncbigene:55125 semapv:UnspecifiedMatching -OMIM:616427 AKAIN1 skos:exactMatch hgnc:AKAIN1 semapv:UnspecifiedMatching +OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:28285 semapv:UnspecifiedMatching +OMIM:616427 AKAIN1 skos:exactMatch hgnc.symbol:AKAIN1 semapv:UnspecifiedMatching OMIM:616427 AKAIN1 skos:exactMatch ncbigene:642597 semapv:UnspecifiedMatching -OMIM:616429 SUSD3 skos:exactMatch hgnc:SUSD3 semapv:UnspecifiedMatching +OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:28391 semapv:UnspecifiedMatching +OMIM:616429 SUSD3 skos:exactMatch hgnc.symbol:SUSD3 semapv:UnspecifiedMatching OMIM:616429 SUSD3 skos:exactMatch ncbigene:203328 semapv:UnspecifiedMatching -OMIM:616431 GPAT2 skos:exactMatch hgnc:GPAT2 semapv:UnspecifiedMatching +OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:27168 semapv:UnspecifiedMatching +OMIM:616431 GPAT2 skos:exactMatch hgnc.symbol:GPAT2 semapv:UnspecifiedMatching OMIM:616431 GPAT2 skos:exactMatch ncbigene:150763 semapv:UnspecifiedMatching -OMIM:616432 ARHGEF18 skos:exactMatch hgnc:ARHGEF18 semapv:UnspecifiedMatching +OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:17090 semapv:UnspecifiedMatching +OMIM:616432 ARHGEF18 skos:exactMatch hgnc.symbol:ARHGEF18 semapv:UnspecifiedMatching OMIM:616432 ARHGEF18 skos:exactMatch ncbigene:23370 semapv:UnspecifiedMatching OMIM:616434 IST1 skos:exactMatch UMLS:C3470516 semapv:UnspecifiedMatching -OMIM:616434 IST1 skos:exactMatch hgnc:IST1 semapv:UnspecifiedMatching +OMIM:616434 IST1 skos:exactMatch hgnc.symbol:28977 semapv:UnspecifiedMatching +OMIM:616434 IST1 skos:exactMatch hgnc.symbol:IST1 semapv:UnspecifiedMatching OMIM:616434 IST1 skos:exactMatch ncbigene:9798 semapv:UnspecifiedMatching -OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc:TNFAIP8L3 semapv:UnspecifiedMatching +OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:20620 semapv:UnspecifiedMatching +OMIM:616438 TNFAIP8L3 skos:exactMatch hgnc.symbol:TNFAIP8L3 semapv:UnspecifiedMatching OMIM:616438 TNFAIP8L3 skos:exactMatch ncbigene:388121 semapv:UnspecifiedMatching -OMIM:616440 SLC32A1 skos:exactMatch hgnc:SLC32A1 semapv:UnspecifiedMatching +OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:11018 semapv:UnspecifiedMatching +OMIM:616440 SLC32A1 skos:exactMatch hgnc.symbol:SLC32A1 semapv:UnspecifiedMatching OMIM:616440 SLC32A1 skos:exactMatch ncbigene:140679 semapv:UnspecifiedMatching -OMIM:616441 OVOL2 skos:exactMatch hgnc:OVOL2 semapv:UnspecifiedMatching +OMIM:616441 OVOL2 skos:exactMatch hgnc.symbol:15804 semapv:UnspecifiedMatching +OMIM:616441 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OMIM:616444 RBM19 skos:exactMatch ncbigene:9904 semapv:UnspecifiedMatching -OMIM:616446 LEXM skos:exactMatch hgnc:CIMAP2 semapv:UnspecifiedMatching +OMIM:616446 LEXM skos:exactMatch hgnc.symbol:CIMAP2 semapv:UnspecifiedMatching OMIM:616446 LEXM skos:exactMatch ncbigene:163747 semapv:UnspecifiedMatching -OMIM:616447 VIRMA skos:exactMatch hgnc:VIRMA semapv:UnspecifiedMatching +OMIM:616447 VIRMA skos:exactMatch hgnc.symbol:24500 semapv:UnspecifiedMatching +OMIM:616447 VIRMA skos:exactMatch hgnc.symbol:VIRMA semapv:UnspecifiedMatching OMIM:616447 VIRMA skos:exactMatch ncbigene:25962 semapv:UnspecifiedMatching -OMIM:616448 RAB12 skos:exactMatch hgnc:RAB12 semapv:UnspecifiedMatching +OMIM:616448 RAB12 skos:exactMatch hgnc.symbol:31332 semapv:UnspecifiedMatching +OMIM:616448 RAB12 skos:exactMatch hgnc.symbol:RAB12 semapv:UnspecifiedMatching OMIM:616448 RAB12 skos:exactMatch ncbigene:201475 semapv:UnspecifiedMatching -OMIM:616450 EFHD2 skos:exactMatch hgnc:EFHD2 semapv:UnspecifiedMatching 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semapv:UnspecifiedMatching -OMIM:616476 AGBL4 skos:exactMatch hgnc:AGBL4 semapv:UnspecifiedMatching +OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:25892 semapv:UnspecifiedMatching +OMIM:616476 AGBL4 skos:exactMatch hgnc.symbol:AGBL4 semapv:UnspecifiedMatching OMIM:616476 AGBL4 skos:exactMatch ncbigene:84871 semapv:UnspecifiedMatching -OMIM:616477 NRBF2 skos:exactMatch hgnc:NRBF2 semapv:UnspecifiedMatching +OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:19692 semapv:UnspecifiedMatching +OMIM:616477 NRBF2 skos:exactMatch hgnc.symbol:NRBF2 semapv:UnspecifiedMatching OMIM:616477 NRBF2 skos:exactMatch ncbigene:29982 semapv:UnspecifiedMatching -OMIM:616478 LRGUK skos:exactMatch hgnc:LRGUK semapv:UnspecifiedMatching +OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:21964 semapv:UnspecifiedMatching +OMIM:616478 LRGUK skos:exactMatch hgnc.symbol:LRGUK semapv:UnspecifiedMatching OMIM:616478 LRGUK skos:exactMatch ncbigene:136332 semapv:UnspecifiedMatching -OMIM:616480 KIAA1328 skos:exactMatch hgnc:KIAA1328 semapv:UnspecifiedMatching +OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:29248 semapv:UnspecifiedMatching +OMIM:616480 KIAA1328 skos:exactMatch hgnc.symbol:KIAA1328 semapv:UnspecifiedMatching OMIM:616480 KIAA1328 skos:exactMatch ncbigene:57536 semapv:UnspecifiedMatching OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C1539930 semapv:UnspecifiedMatching OMIM:616484 TAX1BP3 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:616484 TAX1BP3 skos:exactMatch hgnc:TAX1BP3 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:30684 semapv:UnspecifiedMatching +OMIM:616484 TAX1BP3 skos:exactMatch hgnc.symbol:TAX1BP3 semapv:UnspecifiedMatching OMIM:616484 TAX1BP3 skos:exactMatch ncbigene:30851 semapv:UnspecifiedMatching -OMIM:616485 ZBTB21 skos:exactMatch hgnc:ZBTB21 semapv:UnspecifiedMatching +OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:13083 semapv:UnspecifiedMatching +OMIM:616485 ZBTB21 skos:exactMatch hgnc.symbol:ZBTB21 semapv:UnspecifiedMatching OMIM:616485 ZBTB21 skos:exactMatch ncbigene:49854 semapv:UnspecifiedMatching +OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch UMLS:C4225310 semapv:UnspecifiedMatching -OMIM:616486 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities skos:exactMatch orphanet.ordo:2512 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching +OMIM:616489 silver-russell syndrome 3 skos:exactMatch Orphanet:813 semapv:UnspecifiedMatching OMIM:616489 silver-russell syndrome 3 skos:exactMatch UMLS:C4225307 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch orphanet.ordo:397590 semapv:UnspecifiedMatching -OMIM:616489 silver-russell syndrome 3 skos:exactMatch orphanet.ordo:813 semapv:UnspecifiedMatching -OMIM:616492 EWSAT1 skos:exactMatch hgnc:EWSAT1 semapv:UnspecifiedMatching +OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:26596 semapv:UnspecifiedMatching +OMIM:616492 EWSAT1 skos:exactMatch hgnc.symbol:EWSAT1 semapv:UnspecifiedMatching OMIM:616492 EWSAT1 skos:exactMatch ncbigene:283673 semapv:UnspecifiedMatching -OMIM:616493 TASOR skos:exactMatch hgnc:TASOR semapv:UnspecifiedMatching +OMIM:616493 TASOR skos:exactMatch hgnc.symbol:30314 semapv:UnspecifiedMatching +OMIM:616493 TASOR skos:exactMatch hgnc.symbol:TASOR semapv:UnspecifiedMatching OMIM:616493 TASOR skos:exactMatch ncbigene:23272 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C1538932 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:616495 ARL6IP6 skos:exactMatch hgnc:ARL6IP6 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:24048 semapv:UnspecifiedMatching +OMIM:616495 ARL6IP6 skos:exactMatch hgnc.symbol:ARL6IP6 semapv:UnspecifiedMatching OMIM:616495 ARL6IP6 skos:exactMatch ncbigene:151188 semapv:UnspecifiedMatching -OMIM:616496 NEMP1 skos:exactMatch hgnc:NEMP1 semapv:UnspecifiedMatching +OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:29001 semapv:UnspecifiedMatching +OMIM:616496 NEMP1 skos:exactMatch hgnc.symbol:NEMP1 semapv:UnspecifiedMatching OMIM:616496 NEMP1 skos:exactMatch ncbigene:23306 semapv:UnspecifiedMatching -OMIM:616497 NEMP2 skos:exactMatch hgnc:NEMP2 semapv:UnspecifiedMatching +OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:33700 semapv:UnspecifiedMatching +OMIM:616497 NEMP2 skos:exactMatch hgnc.symbol:NEMP2 semapv:UnspecifiedMatching OMIM:616497 NEMP2 skos:exactMatch ncbigene:100131211 semapv:UnspecifiedMatching -OMIM:616498 RETREG3 skos:exactMatch hgnc:RETREG3 semapv:UnspecifiedMatching +OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:27258 semapv:UnspecifiedMatching +OMIM:616498 RETREG3 skos:exactMatch hgnc.symbol:RETREG3 semapv:UnspecifiedMatching OMIM:616498 RETREG3 skos:exactMatch ncbigene:162427 semapv:UnspecifiedMatching -OMIM:616499 TMEM203 skos:exactMatch hgnc:TMEM203 semapv:UnspecifiedMatching +OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:28217 semapv:UnspecifiedMatching +OMIM:616499 TMEM203 skos:exactMatch hgnc.symbol:TMEM203 semapv:UnspecifiedMatching OMIM:616499 TMEM203 skos:exactMatch ncbigene:94107 semapv:UnspecifiedMatching +OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching -OMIM:616500 mitochondrial complex 4 deficiency, nuclear iia 9 skos:exactMatch orphanet.ordo:1561 semapv:UnspecifiedMatching +OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch Orphanet:1561 semapv:UnspecifiedMatching OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching -OMIM:616501 mitochondrial complex 4 deficiency, nuclear iia 13 skos:exactMatch orphanet.ordo:1561 semapv:UnspecifiedMatching OMIM:616504 METTL14 skos:exactMatch UMLS:C2681660 semapv:UnspecifiedMatching -OMIM:616504 METTL14 skos:exactMatch hgnc:METTL14 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:29330 semapv:UnspecifiedMatching +OMIM:616504 METTL14 skos:exactMatch hgnc.symbol:METTL14 semapv:UnspecifiedMatching OMIM:616504 METTL14 skos:exactMatch ncbigene:57721 semapv:UnspecifiedMatching OMIM:616506 NDNF skos:exactMatch UMLS:C3472710 semapv:UnspecifiedMatching OMIM:616506 NDNF skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching -OMIM:616506 NDNF skos:exactMatch hgnc:NDNF semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch hgnc.symbol:26256 semapv:UnspecifiedMatching +OMIM:616506 NDNF skos:exactMatch hgnc.symbol:NDNF semapv:UnspecifiedMatching OMIM:616506 NDNF skos:exactMatch ncbigene:79625 semapv:UnspecifiedMatching -OMIM:616508 SLC39A11 skos:exactMatch hgnc:SLC39A11 semapv:UnspecifiedMatching +OMIM:616508 SLC39A11 skos:exactMatch hgnc.symbol:14463 semapv:UnspecifiedMatching +OMIM:616508 SLC39A11 skos:exactMatch hgnc.symbol:SLC39A11 semapv:UnspecifiedMatching OMIM:616508 SLC39A11 skos:exactMatch ncbigene:201266 semapv:UnspecifiedMatching -OMIM:616510 GNPNAT1 skos:exactMatch hgnc:GNPNAT1 semapv:UnspecifiedMatching +OMIM:616510 GNPNAT1 skos:exactMatch hgnc.symbol:19980 semapv:UnspecifiedMatching +OMIM:616510 GNPNAT1 skos:exactMatch hgnc.symbol:GNPNAT1 semapv:UnspecifiedMatching OMIM:616510 GNPNAT1 skos:exactMatch ncbigene:64841 semapv:UnspecifiedMatching -OMIM:616512 RNF152 skos:exactMatch hgnc:RNF152 semapv:UnspecifiedMatching +OMIM:616512 RNF152 skos:exactMatch hgnc.symbol:26811 semapv:UnspecifiedMatching +OMIM:616512 RNF152 skos:exactMatch hgnc.symbol:RNF152 semapv:UnspecifiedMatching OMIM:616512 RNF152 skos:exactMatch ncbigene:220441 semapv:UnspecifiedMatching -OMIM:616513 LARP4B skos:exactMatch hgnc:LARP4B semapv:UnspecifiedMatching +OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:28987 semapv:UnspecifiedMatching +OMIM:616513 LARP4B skos:exactMatch hgnc.symbol:LARP4B semapv:UnspecifiedMatching OMIM:616513 LARP4B skos:exactMatch ncbigene:23185 semapv:UnspecifiedMatching -OMIM:616514 FAM195B skos:exactMatch hgnc:MCRIP1 semapv:UnspecifiedMatching +OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:28007 semapv:UnspecifiedMatching +OMIM:616514 FAM195B skos:exactMatch hgnc.symbol:MCRIP1 semapv:UnspecifiedMatching OMIM:616514 FAM195B skos:exactMatch ncbigene:348262 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:261 semapv:UnspecifiedMatching +OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch Orphanet:98855 semapv:UnspecifiedMatching OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch UMLS:C2750035 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch orphanet.ordo:261 semapv:UnspecifiedMatching -OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive skos:exactMatch orphanet.ordo:98855 semapv:UnspecifiedMatching -OMIM:616518 SLC38A6 skos:exactMatch hgnc:SLC38A6 semapv:UnspecifiedMatching +OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:19863 semapv:UnspecifiedMatching +OMIM:616518 SLC38A6 skos:exactMatch hgnc.symbol:SLC38A6 semapv:UnspecifiedMatching OMIM:616518 SLC38A6 skos:exactMatch ncbigene:145389 semapv:UnspecifiedMatching -OMIM:616519 PDE12 skos:exactMatch hgnc:PDE12 semapv:UnspecifiedMatching +OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:25386 semapv:UnspecifiedMatching +OMIM:616519 PDE12 skos:exactMatch hgnc.symbol:PDE12 semapv:UnspecifiedMatching OMIM:616519 PDE12 skos:exactMatch ncbigene:201626 semapv:UnspecifiedMatching -OMIM:616520 AHCYL2 skos:exactMatch hgnc:AHCYL2 semapv:UnspecifiedMatching +OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:22204 semapv:UnspecifiedMatching +OMIM:616520 AHCYL2 skos:exactMatch hgnc.symbol:AHCYL2 semapv:UnspecifiedMatching OMIM:616520 AHCYL2 skos:exactMatch ncbigene:23382 semapv:UnspecifiedMatching -OMIM:616522 DCUN1D5 skos:exactMatch hgnc:DCUN1D5 semapv:UnspecifiedMatching +OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:28409 semapv:UnspecifiedMatching +OMIM:616522 DCUN1D5 skos:exactMatch hgnc.symbol:DCUN1D5 semapv:UnspecifiedMatching OMIM:616522 DCUN1D5 skos:exactMatch ncbigene:84259 semapv:UnspecifiedMatching -OMIM:616523 MFAP3L skos:exactMatch hgnc:MFAP3L semapv:UnspecifiedMatching +OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:29083 semapv:UnspecifiedMatching +OMIM:616523 MFAP3L skos:exactMatch hgnc.symbol:MFAP3L semapv:UnspecifiedMatching OMIM:616523 MFAP3L skos:exactMatch ncbigene:9848 semapv:UnspecifiedMatching -OMIM:616524 TMEM139 skos:exactMatch hgnc:TMEM139 semapv:UnspecifiedMatching +OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:22058 semapv:UnspecifiedMatching +OMIM:616524 TMEM139 skos:exactMatch hgnc.symbol:TMEM139 semapv:UnspecifiedMatching OMIM:616524 TMEM139 skos:exactMatch ncbigene:135932 semapv:UnspecifiedMatching -OMIM:616525 SLC38A10 skos:exactMatch hgnc:SLC38A10 semapv:UnspecifiedMatching +OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:28237 semapv:UnspecifiedMatching +OMIM:616525 SLC38A10 skos:exactMatch hgnc.symbol:SLC38A10 semapv:UnspecifiedMatching OMIM:616525 SLC38A10 skos:exactMatch ncbigene:124565 semapv:UnspecifiedMatching -OMIM:616526 SLC38A11 skos:exactMatch hgnc:SLC38A11 semapv:UnspecifiedMatching +OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:26836 semapv:UnspecifiedMatching +OMIM:616526 SLC38A11 skos:exactMatch hgnc.symbol:SLC38A11 semapv:UnspecifiedMatching OMIM:616526 SLC38A11 skos:exactMatch ncbigene:151258 semapv:UnspecifiedMatching -OMIM:616527 SFR1 skos:exactMatch hgnc:SFR1 semapv:UnspecifiedMatching +OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:29574 semapv:UnspecifiedMatching +OMIM:616527 SFR1 skos:exactMatch hgnc.symbol:SFR1 semapv:UnspecifiedMatching OMIM:616527 SFR1 skos:exactMatch ncbigene:119392 semapv:UnspecifiedMatching -OMIM:616528 SWI5 skos:exactMatch hgnc:SWI5 semapv:UnspecifiedMatching +OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:31412 semapv:UnspecifiedMatching +OMIM:616528 SWI5 skos:exactMatch hgnc.symbol:SWI5 semapv:UnspecifiedMatching OMIM:616528 SWI5 skos:exactMatch ncbigene:375757 semapv:UnspecifiedMatching OMIM:616529 YTHDF1 skos:exactMatch UMLS:C1538132 semapv:UnspecifiedMatching -OMIM:616529 YTHDF1 skos:exactMatch hgnc:YTHDF1 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:15867 semapv:UnspecifiedMatching +OMIM:616529 YTHDF1 skos:exactMatch hgnc.symbol:YTHDF1 semapv:UnspecifiedMatching OMIM:616529 YTHDF1 skos:exactMatch ncbigene:54915 semapv:UnspecifiedMatching -OMIM:616530 YTHDC2 skos:exactMatch hgnc:YTHDC2 semapv:UnspecifiedMatching +OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:24721 semapv:UnspecifiedMatching +OMIM:616530 YTHDC2 skos:exactMatch hgnc.symbol:YTHDC2 semapv:UnspecifiedMatching OMIM:616530 YTHDC2 skos:exactMatch ncbigene:64848 semapv:UnspecifiedMatching OMIM:616533 DDX31 skos:exactMatch UMLS:C1424501 semapv:UnspecifiedMatching -OMIM:616533 DDX31 skos:exactMatch hgnc:DDX31 semapv:UnspecifiedMatching +OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:16715 semapv:UnspecifiedMatching +OMIM:616533 DDX31 skos:exactMatch hgnc.symbol:DDX31 semapv:UnspecifiedMatching OMIM:616533 DDX31 skos:exactMatch ncbigene:64794 semapv:UnspecifiedMatching -OMIM:616536 CST9L skos:exactMatch hgnc:CST9L semapv:UnspecifiedMatching +OMIM:616536 CST9L skos:exactMatch hgnc.symbol:16233 semapv:UnspecifiedMatching +OMIM:616536 CST9L skos:exactMatch hgnc.symbol:CST9L semapv:UnspecifiedMatching OMIM:616536 CST9L skos:exactMatch ncbigene:128821 semapv:UnspecifiedMatching -OMIM:616537 VSTM2L skos:exactMatch hgnc:VSTM2L semapv:UnspecifiedMatching +OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:16096 semapv:UnspecifiedMatching +OMIM:616537 VSTM2L skos:exactMatch hgnc.symbol:VSTM2L semapv:UnspecifiedMatching OMIM:616537 VSTM2L skos:exactMatch ncbigene:128434 semapv:UnspecifiedMatching -OMIM:616542 GSX1 skos:exactMatch hgnc:GSX1 semapv:UnspecifiedMatching +OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:20374 semapv:UnspecifiedMatching +OMIM:616542 GSX1 skos:exactMatch hgnc.symbol:GSX1 semapv:UnspecifiedMatching OMIM:616542 GSX1 skos:exactMatch ncbigene:219409 semapv:UnspecifiedMatching -OMIM:616543 CST9 skos:exactMatch hgnc:CST9 semapv:UnspecifiedMatching +OMIM:616543 CST9 skos:exactMatch hgnc.symbol:13261 semapv:UnspecifiedMatching +OMIM:616543 CST9 skos:exactMatch hgnc.symbol:CST9 semapv:UnspecifiedMatching OMIM:616543 CST9 skos:exactMatch ncbigene:128822 semapv:UnspecifiedMatching -OMIM:616545 PRELID3A skos:exactMatch hgnc:PRELID3A semapv:UnspecifiedMatching +OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:24639 semapv:UnspecifiedMatching +OMIM:616545 PRELID3A skos:exactMatch hgnc.symbol:PRELID3A semapv:UnspecifiedMatching OMIM:616545 PRELID3A skos:exactMatch ncbigene:10650 semapv:UnspecifiedMatching -OMIM:616547 LYG2 skos:exactMatch hgnc:LYG2 semapv:UnspecifiedMatching +OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:29615 semapv:UnspecifiedMatching +OMIM:616547 LYG2 skos:exactMatch hgnc.symbol:LYG2 semapv:UnspecifiedMatching OMIM:616547 LYG2 skos:exactMatch ncbigene:254773 semapv:UnspecifiedMatching -OMIM:616548 LYPLAL1 skos:exactMatch hgnc:LYPLAL1 semapv:UnspecifiedMatching +OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:20440 semapv:UnspecifiedMatching +OMIM:616548 LYPLAL1 skos:exactMatch hgnc.symbol:LYPLAL1 semapv:UnspecifiedMatching OMIM:616548 LYPLAL1 skos:exactMatch ncbigene:127018 semapv:UnspecifiedMatching -OMIM:616550 TMEM120A skos:exactMatch hgnc:TMEM120A semapv:UnspecifiedMatching +OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:21697 semapv:UnspecifiedMatching +OMIM:616550 TMEM120A skos:exactMatch hgnc.symbol:TMEM120A semapv:UnspecifiedMatching OMIM:616550 TMEM120A skos:exactMatch ncbigene:83862 semapv:UnspecifiedMatching -OMIM:616551 TMEM120B skos:exactMatch hgnc:TMEM120B semapv:UnspecifiedMatching +OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:32008 semapv:UnspecifiedMatching +OMIM:616551 TMEM120B skos:exactMatch hgnc.symbol:TMEM120B semapv:UnspecifiedMatching OMIM:616551 TMEM120B skos:exactMatch ncbigene:144404 semapv:UnspecifiedMatching -OMIM:616552 CARNMT1 skos:exactMatch hgnc:CARNMT1 semapv:UnspecifiedMatching +OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:23435 semapv:UnspecifiedMatching +OMIM:616552 CARNMT1 skos:exactMatch hgnc.symbol:CARNMT1 semapv:UnspecifiedMatching OMIM:616552 CARNMT1 skos:exactMatch ncbigene:138199 semapv:UnspecifiedMatching -OMIM:616554 SPAG17 skos:exactMatch hgnc:SPAG17 semapv:UnspecifiedMatching +OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:26620 semapv:UnspecifiedMatching +OMIM:616554 SPAG17 skos:exactMatch hgnc.symbol:SPAG17 semapv:UnspecifiedMatching OMIM:616554 SPAG17 skos:exactMatch ncbigene:200162 semapv:UnspecifiedMatching -OMIM:616555 LRRC37A skos:exactMatch hgnc:LRRC37A semapv:UnspecifiedMatching +OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:29069 semapv:UnspecifiedMatching +OMIM:616555 LRRC37A skos:exactMatch hgnc.symbol:LRRC37A semapv:UnspecifiedMatching OMIM:616555 LRRC37A skos:exactMatch ncbigene:9884 semapv:UnspecifiedMatching -OMIM:616556 LRRC37A2 skos:exactMatch hgnc:LRRC37A2 semapv:UnspecifiedMatching +OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:32404 semapv:UnspecifiedMatching +OMIM:616556 LRRC37A2 skos:exactMatch hgnc.symbol:LRRC37A2 semapv:UnspecifiedMatching OMIM:616556 LRRC37A2 skos:exactMatch ncbigene:474170 semapv:UnspecifiedMatching -OMIM:616557 LRRC37A3 skos:exactMatch hgnc:LRRC37A3 semapv:UnspecifiedMatching +OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:32427 semapv:UnspecifiedMatching +OMIM:616557 LRRC37A3 skos:exactMatch hgnc.symbol:LRRC37A3 semapv:UnspecifiedMatching OMIM:616557 LRRC37A3 skos:exactMatch ncbigene:374819 semapv:UnspecifiedMatching -OMIM:616558 LRRC37B skos:exactMatch hgnc:LRRC37B semapv:UnspecifiedMatching +OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:29070 semapv:UnspecifiedMatching +OMIM:616558 LRRC37B skos:exactMatch hgnc.symbol:LRRC37B semapv:UnspecifiedMatching OMIM:616558 LRRC37B skos:exactMatch ncbigene:114659 semapv:UnspecifiedMatching -OMIM:616560 cd300h antigen skos:exactMatch hgnc:CD300H semapv:UnspecifiedMatching +OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:52292 semapv:UnspecifiedMatching +OMIM:616560 cd300h antigen skos:exactMatch hgnc.symbol:CD300H semapv:UnspecifiedMatching OMIM:616560 cd300h antigen skos:exactMatch ncbigene:100130520 semapv:UnspecifiedMatching -OMIM:616561 RASAL3 skos:exactMatch hgnc:RASAL3 semapv:UnspecifiedMatching +OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:26129 semapv:UnspecifiedMatching +OMIM:616561 RASAL3 skos:exactMatch hgnc.symbol:RASAL3 semapv:UnspecifiedMatching OMIM:616561 RASAL3 skos:exactMatch ncbigene:64926 semapv:UnspecifiedMatching -OMIM:616563 SLK skos:exactMatch hgnc:SLK semapv:UnspecifiedMatching +OMIM:616563 SLK skos:exactMatch hgnc.symbol:11088 semapv:UnspecifiedMatching +OMIM:616563 SLK skos:exactMatch hgnc.symbol:SLK semapv:UnspecifiedMatching OMIM:616563 SLK skos:exactMatch ncbigene:9748 semapv:UnspecifiedMatching -OMIM:616565 ANKRD30B skos:exactMatch hgnc:ANKRD30B semapv:UnspecifiedMatching +OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:24165 semapv:UnspecifiedMatching +OMIM:616565 ANKRD30B skos:exactMatch hgnc.symbol:ANKRD30B semapv:UnspecifiedMatching OMIM:616565 ANKRD30B skos:exactMatch ncbigene:374860 semapv:UnspecifiedMatching -OMIM:616567 DAPK2 skos:exactMatch hgnc:DAPK2 semapv:UnspecifiedMatching +OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:2675 semapv:UnspecifiedMatching +OMIM:616567 DAPK2 skos:exactMatch hgnc.symbol:DAPK2 semapv:UnspecifiedMatching OMIM:616567 DAPK2 skos:exactMatch ncbigene:23604 semapv:UnspecifiedMatching -OMIM:616569 CSAD skos:exactMatch hgnc:CSAD semapv:UnspecifiedMatching +OMIM:616569 CSAD skos:exactMatch hgnc.symbol:18966 semapv:UnspecifiedMatching +OMIM:616569 CSAD skos:exactMatch hgnc.symbol:CSAD semapv:UnspecifiedMatching OMIM:616569 CSAD skos:exactMatch ncbigene:51380 semapv:UnspecifiedMatching -OMIM:616571 CLEC18A skos:exactMatch hgnc:CLEC18A semapv:UnspecifiedMatching +OMIM:616571 CLEC18A skos:exactMatch hgnc.symbol:30388 semapv:UnspecifiedMatching +OMIM:616571 CLEC18A skos:exactMatch hgnc.symbol:CLEC18A semapv:UnspecifiedMatching OMIM:616571 CLEC18A skos:exactMatch ncbigene:348174 semapv:UnspecifiedMatching -OMIM:616572 CLEC18B skos:exactMatch hgnc:CLEC18B semapv:UnspecifiedMatching +OMIM:616572 CLEC18B skos:exactMatch hgnc.symbol:33849 semapv:UnspecifiedMatching +OMIM:616572 CLEC18B skos:exactMatch hgnc.symbol:CLEC18B semapv:UnspecifiedMatching OMIM:616572 CLEC18B skos:exactMatch ncbigene:497190 semapv:UnspecifiedMatching -OMIM:616573 CLEC18C skos:exactMatch hgnc:CLEC18C semapv:UnspecifiedMatching +OMIM:616573 CLEC18C skos:exactMatch hgnc.symbol:28538 semapv:UnspecifiedMatching +OMIM:616573 CLEC18C skos:exactMatch hgnc.symbol:CLEC18C semapv:UnspecifiedMatching OMIM:616573 CLEC18C skos:exactMatch ncbigene:283971 semapv:UnspecifiedMatching -OMIM:616574 MICOS10 skos:exactMatch hgnc:MICOS10 semapv:UnspecifiedMatching +OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:32068 semapv:UnspecifiedMatching +OMIM:616574 MICOS10 skos:exactMatch hgnc.symbol:MICOS10 semapv:UnspecifiedMatching OMIM:616574 MICOS10 skos:exactMatch ncbigene:440574 semapv:UnspecifiedMatching -OMIM:616575 LENG8 skos:exactMatch hgnc:LENG8 semapv:UnspecifiedMatching +OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:15500 semapv:UnspecifiedMatching +OMIM:616575 LENG8 skos:exactMatch hgnc.symbol:LENG8 semapv:UnspecifiedMatching OMIM:616575 LENG8 skos:exactMatch ncbigene:114823 semapv:UnspecifiedMatching +OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch Orphanet:1572 semapv:UnspecifiedMatching OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch UMLS:C4225277 semapv:UnspecifiedMatching -OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity skos:exactMatch orphanet.ordo:1572 semapv:UnspecifiedMatching +OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch Orphanet:457351 semapv:UnspecifiedMatching OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch UMLS:C4225276 semapv:UnspecifiedMatching -OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities skos:exactMatch orphanet.ordo:457351 semapv:UnspecifiedMatching -OMIM:616578 ZBTB1 skos:exactMatch hgnc:ZBTB1 semapv:UnspecifiedMatching +OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:20259 semapv:UnspecifiedMatching +OMIM:616578 ZBTB1 skos:exactMatch hgnc.symbol:ZBTB1 semapv:UnspecifiedMatching OMIM:616578 ZBTB1 skos:exactMatch ncbigene:22890 semapv:UnspecifiedMatching -OMIM:616581 KDM4E skos:exactMatch hgnc:KDM4E semapv:UnspecifiedMatching +OMIM:616581 KDM4E skos:exactMatch hgnc.symbol:37098 semapv:UnspecifiedMatching +OMIM:616581 KDM4E skos:exactMatch hgnc.symbol:KDM4E semapv:UnspecifiedMatching OMIM:616581 KDM4E skos:exactMatch ncbigene:390245 semapv:UnspecifiedMatching -OMIM:616582 LSR skos:exactMatch hgnc:LSR semapv:UnspecifiedMatching +OMIM:616582 LSR skos:exactMatch hgnc.symbol:29572 semapv:UnspecifiedMatching +OMIM:616582 LSR skos:exactMatch hgnc.symbol:LSR semapv:UnspecifiedMatching OMIM:616582 LSR skos:exactMatch ncbigene:51599 semapv:UnspecifiedMatching -OMIM:616584 SPATA31A7 skos:exactMatch hgnc:SPATA31A7 semapv:UnspecifiedMatching +OMIM:616584 SPATA31A7 skos:exactMatch hgnc.symbol:32007 semapv:UnspecifiedMatching +OMIM:616584 SPATA31A7 skos:exactMatch hgnc.symbol:SPATA31A7 semapv:UnspecifiedMatching OMIM:616584 SPATA31A7 skos:exactMatch ncbigene:26165 semapv:UnspecifiedMatching -OMIM:616585 RSPRY1 skos:exactMatch hgnc:RSPRY1 semapv:UnspecifiedMatching +OMIM:616585 RSPRY1 skos:exactMatch hgnc.symbol:29420 semapv:UnspecifiedMatching +OMIM:616585 RSPRY1 skos:exactMatch hgnc.symbol:RSPRY1 semapv:UnspecifiedMatching OMIM:616585 RSPRY1 skos:exactMatch ncbigene:89970 semapv:UnspecifiedMatching +OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch Orphanet:447760 semapv:UnspecifiedMatching OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch UMLS:C4225272 semapv:UnspecifiedMatching -OMIM:616586 spastic paraplegia 9b, autosomal recessive skos:exactMatch orphanet.ordo:447760 semapv:UnspecifiedMatching -OMIM:616587 FAM118B skos:exactMatch hgnc:FAM118B semapv:UnspecifiedMatching +OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:26110 semapv:UnspecifiedMatching +OMIM:616587 FAM118B skos:exactMatch hgnc.symbol:FAM118B semapv:UnspecifiedMatching OMIM:616587 FAM118B skos:exactMatch ncbigene:79607 semapv:UnspecifiedMatching -OMIM:616588 DHFRL1 skos:exactMatch hgnc:DHFR2 semapv:UnspecifiedMatching +OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:27309 semapv:UnspecifiedMatching +OMIM:616588 DHFRL1 skos:exactMatch hgnc.symbol:DHFR2 semapv:UnspecifiedMatching OMIM:616588 DHFRL1 skos:exactMatch ncbigene:200895 semapv:UnspecifiedMatching -OMIM:616590 ZBTB5 skos:exactMatch hgnc:ZBTB5 semapv:UnspecifiedMatching +OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:23836 semapv:UnspecifiedMatching +OMIM:616590 ZBTB5 skos:exactMatch hgnc.symbol:ZBTB5 semapv:UnspecifiedMatching OMIM:616590 ZBTB5 skos:exactMatch ncbigene:9925 semapv:UnspecifiedMatching -OMIM:616591 ZBTB7C skos:exactMatch hgnc:ZBTB7C semapv:UnspecifiedMatching +OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:31700 semapv:UnspecifiedMatching +OMIM:616591 ZBTB7C skos:exactMatch hgnc.symbol:ZBTB7C semapv:UnspecifiedMatching OMIM:616591 ZBTB7C skos:exactMatch ncbigene:201501 semapv:UnspecifiedMatching +OMIM:616592 kosaki overgrowth syndrome skos:exactMatch Orphanet:477831 semapv:UnspecifiedMatching OMIM:616592 kosaki overgrowth syndrome skos:exactMatch UMLS:C4225270 semapv:UnspecifiedMatching -OMIM:616592 kosaki overgrowth syndrome skos:exactMatch orphanet.ordo:477831 semapv:UnspecifiedMatching OMIM:616593 C1QTNF12 skos:exactMatch UMLS:C1823201 semapv:UnspecifiedMatching -OMIM:616593 C1QTNF12 skos:exactMatch hgnc:C1QTNF12 semapv:UnspecifiedMatching +OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:32308 semapv:UnspecifiedMatching +OMIM:616593 C1QTNF12 skos:exactMatch hgnc.symbol:C1QTNF12 semapv:UnspecifiedMatching OMIM:616593 C1QTNF12 skos:exactMatch ncbigene:388581 semapv:UnspecifiedMatching -OMIM:616594 ASAP3 skos:exactMatch hgnc:ASAP3 semapv:UnspecifiedMatching +OMIM:616594 ASAP3 skos:exactMatch hgnc.symbol:14987 semapv:UnspecifiedMatching +OMIM:616594 ASAP3 skos:exactMatch hgnc.symbol:ASAP3 semapv:UnspecifiedMatching OMIM:616594 ASAP3 skos:exactMatch ncbigene:55616 semapv:UnspecifiedMatching -OMIM:616595 ZBTB2 skos:exactMatch hgnc:ZBTB2 semapv:UnspecifiedMatching +OMIM:616595 ZBTB2 skos:exactMatch hgnc.symbol:20868 semapv:UnspecifiedMatching +OMIM:616595 ZBTB2 skos:exactMatch hgnc.symbol:ZBTB2 semapv:UnspecifiedMatching OMIM:616595 ZBTB2 skos:exactMatch ncbigene:57621 semapv:UnspecifiedMatching OMIM:616596 ARL8B skos:exactMatch UMLS:C1824210 semapv:UnspecifiedMatching -OMIM:616596 ARL8B skos:exactMatch hgnc:ARL8B semapv:UnspecifiedMatching +OMIM:616596 ARL8B skos:exactMatch hgnc.symbol:25564 semapv:UnspecifiedMatching +OMIM:616596 ARL8B skos:exactMatch hgnc.symbol:ARL8B semapv:UnspecifiedMatching OMIM:616596 ARL8B skos:exactMatch ncbigene:55207 semapv:UnspecifiedMatching OMIM:616597 ARL8A skos:exactMatch UMLS:C1824209 semapv:UnspecifiedMatching -OMIM:616597 ARL8A skos:exactMatch hgnc:ARL8A semapv:UnspecifiedMatching +OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:25192 semapv:UnspecifiedMatching +OMIM:616597 ARL8A skos:exactMatch hgnc.symbol:ARL8A semapv:UnspecifiedMatching OMIM:616597 ARL8A skos:exactMatch ncbigene:127829 semapv:UnspecifiedMatching -OMIM:616598 BORCS5 skos:exactMatch hgnc:BORCS5 semapv:UnspecifiedMatching +OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:17950 semapv:UnspecifiedMatching +OMIM:616598 BORCS5 skos:exactMatch hgnc.symbol:BORCS5 semapv:UnspecifiedMatching OMIM:616598 BORCS5 skos:exactMatch ncbigene:118426 semapv:UnspecifiedMatching -OMIM:616599 BORCS6 skos:exactMatch hgnc:BORCS6 semapv:UnspecifiedMatching +OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:25939 semapv:UnspecifiedMatching +OMIM:616599 BORCS6 skos:exactMatch hgnc.symbol:BORCS6 semapv:UnspecifiedMatching OMIM:616599 BORCS6 skos:exactMatch ncbigene:54785 semapv:UnspecifiedMatching -OMIM:616600 BORCS7 skos:exactMatch hgnc:BORCS7 semapv:UnspecifiedMatching +OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:23516 semapv:UnspecifiedMatching +OMIM:616600 BORCS7 skos:exactMatch hgnc.symbol:BORCS7 semapv:UnspecifiedMatching OMIM:616600 BORCS7 skos:exactMatch ncbigene:119032 semapv:UnspecifiedMatching -OMIM:616601 BORCS8 skos:exactMatch hgnc:BORCS8 semapv:UnspecifiedMatching +OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:37247 semapv:UnspecifiedMatching +OMIM:616601 BORCS8 skos:exactMatch hgnc.symbol:BORCS8 semapv:UnspecifiedMatching OMIM:616601 BORCS8 skos:exactMatch ncbigene:729991 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:35098 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:35099 semapv:UnspecifiedMatching +OMIM:616602 craniosynostosis 6 skos:exactMatch Orphanet:63440 semapv:UnspecifiedMatching OMIM:616602 craniosynostosis 6 skos:exactMatch UMLS:C4225269 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch orphanet.ordo:35098 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch orphanet.ordo:35099 semapv:UnspecifiedMatching -OMIM:616602 craniosynostosis 6 skos:exactMatch orphanet.ordo:63440 semapv:UnspecifiedMatching -OMIM:616605 GSKIP skos:exactMatch hgnc:GSKIP semapv:UnspecifiedMatching +OMIM:616605 GSKIP skos:exactMatch hgnc.symbol:20343 semapv:UnspecifiedMatching +OMIM:616605 GSKIP skos:exactMatch hgnc.symbol:GSKIP semapv:UnspecifiedMatching OMIM:616605 GSKIP skos:exactMatch ncbigene:51527 semapv:UnspecifiedMatching -OMIM:616607 KBTBD8 skos:exactMatch hgnc:KBTBD8 semapv:UnspecifiedMatching +OMIM:616607 KBTBD8 skos:exactMatch hgnc.symbol:30691 semapv:UnspecifiedMatching +OMIM:616607 KBTBD8 skos:exactMatch hgnc.symbol:KBTBD8 semapv:UnspecifiedMatching OMIM:616607 KBTBD8 skos:exactMatch ncbigene:84541 semapv:UnspecifiedMatching -OMIM:616608 MACIR skos:exactMatch hgnc:MACIR semapv:UnspecifiedMatching +OMIM:616608 MACIR skos:exactMatch hgnc.symbol:25052 semapv:UnspecifiedMatching +OMIM:616608 MACIR skos:exactMatch hgnc.symbol:MACIR semapv:UnspecifiedMatching OMIM:616608 MACIR skos:exactMatch ncbigene:90355 semapv:UnspecifiedMatching -OMIM:616609 TMEM65 skos:exactMatch hgnc:TMEM65 semapv:UnspecifiedMatching +OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:25203 semapv:UnspecifiedMatching +OMIM:616609 TMEM65 skos:exactMatch hgnc.symbol:TMEM65 semapv:UnspecifiedMatching OMIM:616609 TMEM65 skos:exactMatch ncbigene:157378 semapv:UnspecifiedMatching -OMIM:616610 CASC15 skos:exactMatch hgnc:CASC15 semapv:UnspecifiedMatching +OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:28245 semapv:UnspecifiedMatching +OMIM:616610 CASC15 skos:exactMatch hgnc.symbol:CASC15 semapv:UnspecifiedMatching OMIM:616610 CASC15 skos:exactMatch ncbigene:401237 semapv:UnspecifiedMatching -OMIM:616611 LINC00461 skos:exactMatch hgnc:MIR9-2HG semapv:UnspecifiedMatching +OMIM:616611 LINC00461 skos:exactMatch hgnc.symbol:MIR9-2HG semapv:UnspecifiedMatching OMIM:616611 LINC00461 skos:exactMatch ncbigene:645323 semapv:UnspecifiedMatching -OMIM:616612 COL6A4P2 skos:exactMatch hgnc:COL6A4P2 semapv:UnspecifiedMatching +OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:38501 semapv:UnspecifiedMatching +OMIM:616612 COL6A4P2 skos:exactMatch hgnc.symbol:COL6A4P2 semapv:UnspecifiedMatching OMIM:616612 COL6A4P2 skos:exactMatch ncbigene:646300 semapv:UnspecifiedMatching -OMIM:616613 COL6A6 skos:exactMatch hgnc:COL6A6 semapv:UnspecifiedMatching +OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:27023 semapv:UnspecifiedMatching +OMIM:616613 COL6A6 skos:exactMatch hgnc.symbol:COL6A6 semapv:UnspecifiedMatching OMIM:616613 COL6A6 skos:exactMatch ncbigene:131873 semapv:UnspecifiedMatching OMIM:616614 HPF1 skos:exactMatch UMLS:C1824170 semapv:UnspecifiedMatching -OMIM:616614 HPF1 skos:exactMatch hgnc:HPF1 semapv:UnspecifiedMatching +OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:26051 semapv:UnspecifiedMatching +OMIM:616614 HPF1 skos:exactMatch hgnc.symbol:HPF1 semapv:UnspecifiedMatching OMIM:616614 HPF1 skos:exactMatch ncbigene:54969 semapv:UnspecifiedMatching OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C2239313 semapv:UnspecifiedMatching OMIM:616615 CSGALNACT1 skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching -OMIM:616615 CSGALNACT1 skos:exactMatch hgnc:CSGALNACT1 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:24290 semapv:UnspecifiedMatching +OMIM:616615 CSGALNACT1 skos:exactMatch hgnc.symbol:CSGALNACT1 semapv:UnspecifiedMatching OMIM:616615 CSGALNACT1 skos:exactMatch ncbigene:55790 semapv:UnspecifiedMatching -OMIM:616616 CSGALNACT2 skos:exactMatch hgnc:CSGALNACT2 semapv:UnspecifiedMatching +OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:24292 semapv:UnspecifiedMatching +OMIM:616616 CSGALNACT2 skos:exactMatch hgnc.symbol:CSGALNACT2 semapv:UnspecifiedMatching OMIM:616616 CSGALNACT2 skos:exactMatch ncbigene:55454 semapv:UnspecifiedMatching +OMIM:616617 heimler syndrome 2 skos:exactMatch Orphanet:3220 semapv:UnspecifiedMatching OMIM:616617 heimler syndrome 2 skos:exactMatch UMLS:C4225267 semapv:UnspecifiedMatching -OMIM:616617 heimler syndrome 2 skos:exactMatch orphanet.ordo:3220 semapv:UnspecifiedMatching OMIM:616618 ACBD5 skos:exactMatch UMLS:C1428043 semapv:UnspecifiedMatching OMIM:616618 ACBD5 skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching -OMIM:616618 ACBD5 skos:exactMatch hgnc:ACBD5 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:23338 semapv:UnspecifiedMatching +OMIM:616618 ACBD5 skos:exactMatch hgnc.symbol:ACBD5 semapv:UnspecifiedMatching OMIM:616618 ACBD5 skos:exactMatch ncbigene:91452 semapv:UnspecifiedMatching -OMIM:616619 DUBR skos:exactMatch hgnc:DUBR semapv:UnspecifiedMatching +OMIM:616619 DUBR skos:exactMatch hgnc.symbol:48569 semapv:UnspecifiedMatching +OMIM:616619 DUBR skos:exactMatch hgnc.symbol:DUBR semapv:UnspecifiedMatching OMIM:616619 DUBR skos:exactMatch ncbigene:344595 semapv:UnspecifiedMatching -OMIM:616620 WDR12 skos:exactMatch hgnc:WDR12 semapv:UnspecifiedMatching +OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:14098 semapv:UnspecifiedMatching +OMIM:616620 WDR12 skos:exactMatch hgnc.symbol:WDR12 semapv:UnspecifiedMatching OMIM:616620 WDR12 skos:exactMatch ncbigene:55759 semapv:UnspecifiedMatching OMIM:616621 DDX27 skos:exactMatch UMLS:C1423765 semapv:UnspecifiedMatching -OMIM:616621 DDX27 skos:exactMatch hgnc:DDX27 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:15837 semapv:UnspecifiedMatching +OMIM:616621 DDX27 skos:exactMatch hgnc.symbol:DDX27 semapv:UnspecifiedMatching OMIM:616621 DDX27 skos:exactMatch ncbigene:55661 semapv:UnspecifiedMatching -OMIM:616623 FAM30A skos:exactMatch hgnc:FAM30A semapv:UnspecifiedMatching +OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:19955 semapv:UnspecifiedMatching +OMIM:616623 FAM30A skos:exactMatch hgnc.symbol:FAM30A semapv:UnspecifiedMatching OMIM:616623 FAM30A skos:exactMatch ncbigene:9834 semapv:UnspecifiedMatching -OMIM:616624 NCBP3 skos:exactMatch hgnc:NCBP3 semapv:UnspecifiedMatching +OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:24612 semapv:UnspecifiedMatching +OMIM:616624 NCBP3 skos:exactMatch hgnc.symbol:NCBP3 semapv:UnspecifiedMatching OMIM:616624 NCBP3 skos:exactMatch ncbigene:55421 semapv:UnspecifiedMatching -OMIM:616626 CERCAM skos:exactMatch hgnc:CERCAM semapv:UnspecifiedMatching +OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:23723 semapv:UnspecifiedMatching +OMIM:616626 CERCAM skos:exactMatch hgnc.symbol:CERCAM semapv:UnspecifiedMatching OMIM:616626 CERCAM skos:exactMatch ncbigene:51148 semapv:UnspecifiedMatching -OMIM:616627 PODXL2 skos:exactMatch hgnc:PODXL2 semapv:UnspecifiedMatching +OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:17936 semapv:UnspecifiedMatching +OMIM:616627 PODXL2 skos:exactMatch hgnc.symbol:PODXL2 semapv:UnspecifiedMatching OMIM:616627 PODXL2 skos:exactMatch ncbigene:50512 semapv:UnspecifiedMatching -OMIM:616628 FAM220A skos:exactMatch hgnc:FAM220A semapv:UnspecifiedMatching +OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:22422 semapv:UnspecifiedMatching +OMIM:616628 FAM220A skos:exactMatch hgnc.symbol:FAM220A semapv:UnspecifiedMatching OMIM:616628 FAM220A skos:exactMatch ncbigene:84792 semapv:UnspecifiedMatching -OMIM:616630 NRSN1 skos:exactMatch hgnc:NRSN1 semapv:UnspecifiedMatching +OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:17881 semapv:UnspecifiedMatching +OMIM:616630 NRSN1 skos:exactMatch hgnc.symbol:NRSN1 semapv:UnspecifiedMatching OMIM:616630 NRSN1 skos:exactMatch ncbigene:140767 semapv:UnspecifiedMatching -OMIM:616633 PRR12 skos:exactMatch hgnc:PRR12 semapv:UnspecifiedMatching +OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:29217 semapv:UnspecifiedMatching +OMIM:616633 PRR12 skos:exactMatch hgnc.symbol:PRR12 semapv:UnspecifiedMatching OMIM:616633 PRR12 skos:exactMatch ncbigene:57479 semapv:UnspecifiedMatching -OMIM:616634 SNED1 skos:exactMatch hgnc:SNED1 semapv:UnspecifiedMatching +OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:24696 semapv:UnspecifiedMatching +OMIM:616634 SNED1 skos:exactMatch hgnc.symbol:SNED1 semapv:UnspecifiedMatching OMIM:616634 SNED1 skos:exactMatch ncbigene:25992 semapv:UnspecifiedMatching -OMIM:616635 CYHR1 skos:exactMatch hgnc:ZFTRAF1 semapv:UnspecifiedMatching +OMIM:616635 CYHR1 skos:exactMatch hgnc.symbol:ZFTRAF1 semapv:UnspecifiedMatching OMIM:616635 CYHR1 skos:exactMatch ncbigene:50626 semapv:UnspecifiedMatching -OMIM:616637 TBC1D16 skos:exactMatch hgnc:TBC1D16 semapv:UnspecifiedMatching +OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:28356 semapv:UnspecifiedMatching +OMIM:616637 TBC1D16 skos:exactMatch hgnc.symbol:TBC1D16 semapv:UnspecifiedMatching OMIM:616637 TBC1D16 skos:exactMatch ncbigene:125058 semapv:UnspecifiedMatching -OMIM:616639 PRDM8 skos:exactMatch hgnc:PRDM8 semapv:UnspecifiedMatching +OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:13993 semapv:UnspecifiedMatching +OMIM:616639 PRDM8 skos:exactMatch hgnc.symbol:PRDM8 semapv:UnspecifiedMatching OMIM:616639 PRDM8 skos:exactMatch ncbigene:56978 semapv:UnspecifiedMatching -OMIM:616641 RNF141 skos:exactMatch hgnc:RNF141 semapv:UnspecifiedMatching +OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:21159 semapv:UnspecifiedMatching +OMIM:616641 RNF141 skos:exactMatch hgnc.symbol:RNF141 semapv:UnspecifiedMatching OMIM:616641 RNF141 skos:exactMatch ncbigene:50862 semapv:UnspecifiedMatching -OMIM:616642 C6ORF89 skos:exactMatch hgnc:C6orf89 semapv:UnspecifiedMatching +OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:21114 semapv:UnspecifiedMatching +OMIM:616642 C6ORF89 skos:exactMatch hgnc.symbol:C6orf89 semapv:UnspecifiedMatching OMIM:616642 C6ORF89 skos:exactMatch ncbigene:221477 semapv:UnspecifiedMatching -OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc:HDGFL3 semapv:UnspecifiedMatching +OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:24937 semapv:UnspecifiedMatching +OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch hgnc.symbol:HDGFL3 semapv:UnspecifiedMatching OMIM:616643 hepatoma-derived growth factor-related protein 3 skos:exactMatch ncbigene:50810 semapv:UnspecifiedMatching -OMIM:616644 CUZD1 skos:exactMatch hgnc:CUZD1 semapv:UnspecifiedMatching +OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:17937 semapv:UnspecifiedMatching +OMIM:616644 CUZD1 skos:exactMatch hgnc.symbol:CUZD1 semapv:UnspecifiedMatching OMIM:616644 CUZD1 skos:exactMatch ncbigene:50624 semapv:UnspecifiedMatching +OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch Orphanet:293181 semapv:UnspecifiedMatching OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch UMLS:C4225257 semapv:UnspecifiedMatching -OMIM:616645 developmental and epileptic encephalopathy 34 skos:exactMatch orphanet.ordo:293181 semapv:UnspecifiedMatching -OMIM:616646 KRT25 skos:exactMatch hgnc:KRT25 semapv:UnspecifiedMatching +OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:30839 semapv:UnspecifiedMatching +OMIM:616646 KRT25 skos:exactMatch hgnc.symbol:KRT25 semapv:UnspecifiedMatching OMIM:616646 KRT25 skos:exactMatch ncbigene:147183 semapv:UnspecifiedMatching +OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching -OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch orphanet.ordo:457375 semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch UMLS:C1825666 semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching -OMIM:616650 KATNIP skos:exactMatch hgnc:KATNIP semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:29068 semapv:UnspecifiedMatching +OMIM:616650 KATNIP skos:exactMatch hgnc.symbol:KATNIP semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch ncbigene:23247 semapv:UnspecifiedMatching -OMIM:616653 PNISR skos:exactMatch hgnc:PNISR semapv:UnspecifiedMatching +OMIM:616653 PNISR skos:exactMatch hgnc.symbol:21222 semapv:UnspecifiedMatching +OMIM:616653 PNISR skos:exactMatch hgnc.symbol:PNISR semapv:UnspecifiedMatching OMIM:616653 PNISR skos:exactMatch ncbigene:25957 semapv:UnspecifiedMatching -OMIM:616655 SIPA1L3 skos:exactMatch hgnc:SIPA1L3 semapv:UnspecifiedMatching +OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:23801 semapv:UnspecifiedMatching +OMIM:616655 SIPA1L3 skos:exactMatch hgnc.symbol:SIPA1L3 semapv:UnspecifiedMatching OMIM:616655 SIPA1L3 skos:exactMatch ncbigene:23094 semapv:UnspecifiedMatching -OMIM:616656 COMMD8 skos:exactMatch hgnc:COMMD8 semapv:UnspecifiedMatching +OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:26036 semapv:UnspecifiedMatching +OMIM:616656 COMMD8 skos:exactMatch hgnc.symbol:COMMD8 semapv:UnspecifiedMatching OMIM:616656 COMMD8 skos:exactMatch ncbigene:54951 semapv:UnspecifiedMatching +OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch Orphanet:447997 semapv:UnspecifiedMatching OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching -OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch orphanet.ordo:447997 semapv:UnspecifiedMatching -OMIM:616658 MICOS13 skos:exactMatch hgnc:MICOS13 semapv:UnspecifiedMatching +OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:33702 semapv:UnspecifiedMatching +OMIM:616658 MICOS13 skos:exactMatch hgnc.symbol:MICOS13 semapv:UnspecifiedMatching OMIM:616658 MICOS13 skos:exactMatch ncbigene:125988 semapv:UnspecifiedMatching -OMIM:616659 TBC1D17 skos:exactMatch hgnc:TBC1D17 semapv:UnspecifiedMatching +OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:25699 semapv:UnspecifiedMatching +OMIM:616659 TBC1D17 skos:exactMatch hgnc.symbol:TBC1D17 semapv:UnspecifiedMatching OMIM:616659 TBC1D17 skos:exactMatch ncbigene:79735 semapv:UnspecifiedMatching -OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc:TMEM175 semapv:UnspecifiedMatching +OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:28709 semapv:UnspecifiedMatching +OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch hgnc.symbol:TMEM175 semapv:UnspecifiedMatching OMIM:616660 transmembrane protein 175: tmem175 skos:exactMatch ncbigene:84286 semapv:UnspecifiedMatching -OMIM:616661 MORC2 skos:exactMatch hgnc:MORC2 semapv:UnspecifiedMatching +OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:23573 semapv:UnspecifiedMatching +OMIM:616661 MORC2 skos:exactMatch hgnc.symbol:MORC2 semapv:UnspecifiedMatching OMIM:616661 MORC2 skos:exactMatch ncbigene:22880 semapv:UnspecifiedMatching -OMIM:616662 THUMPD1 skos:exactMatch hgnc:THUMPD1 semapv:UnspecifiedMatching +OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:23807 semapv:UnspecifiedMatching +OMIM:616662 THUMPD1 skos:exactMatch hgnc.symbol:THUMPD1 semapv:UnspecifiedMatching OMIM:616662 THUMPD1 skos:exactMatch ncbigene:55623 semapv:UnspecifiedMatching OMIM:616663 SNORD118 skos:exactMatch UMLS:C1823074 semapv:UnspecifiedMatching OMIM:616663 SNORD118 skos:exactMatch UMLS:C3281200 semapv:UnspecifiedMatching -OMIM:616663 SNORD118 skos:exactMatch hgnc:SNORD118 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:32952 semapv:UnspecifiedMatching +OMIM:616663 SNORD118 skos:exactMatch hgnc.symbol:SNORD118 semapv:UnspecifiedMatching OMIM:616663 SNORD118 skos:exactMatch ncbigene:727676 semapv:UnspecifiedMatching -OMIM:616664 SNORD13 skos:exactMatch hgnc:SNORD13 semapv:UnspecifiedMatching +OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:32711 semapv:UnspecifiedMatching +OMIM:616664 SNORD13 skos:exactMatch hgnc.symbol:SNORD13 semapv:UnspecifiedMatching OMIM:616664 SNORD13 skos:exactMatch ncbigene:692084 semapv:UnspecifiedMatching -OMIM:616665 SYPL1 skos:exactMatch hgnc:SYPL1 semapv:UnspecifiedMatching +OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:11507 semapv:UnspecifiedMatching +OMIM:616665 SYPL1 skos:exactMatch hgnc.symbol:SYPL1 semapv:UnspecifiedMatching OMIM:616665 SYPL1 skos:exactMatch ncbigene:6856 semapv:UnspecifiedMatching -OMIM:616666 SEZ6 skos:exactMatch hgnc:SEZ6 semapv:UnspecifiedMatching +OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:15955 semapv:UnspecifiedMatching +OMIM:616666 SEZ6 skos:exactMatch hgnc.symbol:SEZ6 semapv:UnspecifiedMatching OMIM:616666 SEZ6 skos:exactMatch ncbigene:124925 semapv:UnspecifiedMatching -OMIM:616667 SEZ6L2 skos:exactMatch hgnc:SEZ6L2 semapv:UnspecifiedMatching +OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:30844 semapv:UnspecifiedMatching +OMIM:616667 SEZ6L2 skos:exactMatch hgnc.symbol:SEZ6L2 semapv:UnspecifiedMatching OMIM:616667 SEZ6L2 skos:exactMatch ncbigene:26470 semapv:UnspecifiedMatching -OMIM:616670 ESYT1 skos:exactMatch hgnc:ESYT1 semapv:UnspecifiedMatching +OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:29534 semapv:UnspecifiedMatching +OMIM:616670 ESYT1 skos:exactMatch hgnc.symbol:ESYT1 semapv:UnspecifiedMatching OMIM:616670 ESYT1 skos:exactMatch ncbigene:23344 semapv:UnspecifiedMatching -OMIM:616671 KRT76 skos:exactMatch hgnc:KRT76 semapv:UnspecifiedMatching +OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:24430 semapv:UnspecifiedMatching +OMIM:616671 KRT76 skos:exactMatch hgnc.symbol:KRT76 semapv:UnspecifiedMatching OMIM:616671 KRT76 skos:exactMatch ncbigene:51350 semapv:UnspecifiedMatching -OMIM:616673 SKA1 skos:exactMatch hgnc:SKA1 semapv:UnspecifiedMatching +OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:28109 semapv:UnspecifiedMatching +OMIM:616673 SKA1 skos:exactMatch hgnc.symbol:SKA1 semapv:UnspecifiedMatching OMIM:616673 SKA1 skos:exactMatch ncbigene:220134 semapv:UnspecifiedMatching -OMIM:616674 SKA2 skos:exactMatch hgnc:SKA2 semapv:UnspecifiedMatching +OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:28006 semapv:UnspecifiedMatching +OMIM:616674 SKA2 skos:exactMatch hgnc.symbol:SKA2 semapv:UnspecifiedMatching OMIM:616674 SKA2 skos:exactMatch ncbigene:348235 semapv:UnspecifiedMatching -OMIM:616675 KRT26 skos:exactMatch hgnc:KRT26 semapv:UnspecifiedMatching +OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:30840 semapv:UnspecifiedMatching +OMIM:616675 KRT26 skos:exactMatch hgnc.symbol:KRT26 semapv:UnspecifiedMatching OMIM:616675 KRT26 skos:exactMatch ncbigene:353288 semapv:UnspecifiedMatching -OMIM:616676 KRT27 skos:exactMatch hgnc:KRT27 semapv:UnspecifiedMatching +OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:30841 semapv:UnspecifiedMatching +OMIM:616676 KRT27 skos:exactMatch hgnc.symbol:KRT27 semapv:UnspecifiedMatching OMIM:616676 KRT27 skos:exactMatch ncbigene:342574 semapv:UnspecifiedMatching -OMIM:616677 KRT28 skos:exactMatch hgnc:KRT28 semapv:UnspecifiedMatching +OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:30842 semapv:UnspecifiedMatching +OMIM:616677 KRT28 skos:exactMatch hgnc.symbol:KRT28 semapv:UnspecifiedMatching OMIM:616677 KRT28 skos:exactMatch ncbigene:162605 semapv:UnspecifiedMatching -OMIM:616678 KRT39 skos:exactMatch hgnc:KRT39 semapv:UnspecifiedMatching +OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:32971 semapv:UnspecifiedMatching +OMIM:616678 KRT39 skos:exactMatch hgnc.symbol:KRT39 semapv:UnspecifiedMatching OMIM:616678 KRT39 skos:exactMatch ncbigene:390792 semapv:UnspecifiedMatching -OMIM:616679 KRT40 skos:exactMatch hgnc:KRT40 semapv:UnspecifiedMatching +OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:26707 semapv:UnspecifiedMatching +OMIM:616679 KRT40 skos:exactMatch hgnc.symbol:KRT40 semapv:UnspecifiedMatching OMIM:616679 KRT40 skos:exactMatch ncbigene:125115 semapv:UnspecifiedMatching -OMIM:616686 SYNCRIP skos:exactMatch hgnc:SYNCRIP semapv:UnspecifiedMatching +OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:16918 semapv:UnspecifiedMatching +OMIM:616686 SYNCRIP skos:exactMatch hgnc.symbol:SYNCRIP semapv:UnspecifiedMatching OMIM:616686 SYNCRIP skos:exactMatch ncbigene:10492 semapv:UnspecifiedMatching -OMIM:616690 CEP104 skos:exactMatch hgnc:CEP104 semapv:UnspecifiedMatching +OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:24866 semapv:UnspecifiedMatching +OMIM:616690 CEP104 skos:exactMatch hgnc.symbol:CEP104 semapv:UnspecifiedMatching OMIM:616690 CEP104 skos:exactMatch ncbigene:9731 semapv:UnspecifiedMatching -OMIM:616691 ESYT2 skos:exactMatch hgnc:ESYT2 semapv:UnspecifiedMatching +OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:22211 semapv:UnspecifiedMatching +OMIM:616691 ESYT2 skos:exactMatch hgnc.symbol:ESYT2 semapv:UnspecifiedMatching OMIM:616691 ESYT2 skos:exactMatch ncbigene:57488 semapv:UnspecifiedMatching -OMIM:616692 ESYT3 skos:exactMatch hgnc:ESYT3 semapv:UnspecifiedMatching +OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:24295 semapv:UnspecifiedMatching +OMIM:616692 ESYT3 skos:exactMatch hgnc.symbol:ESYT3 semapv:UnspecifiedMatching OMIM:616692 ESYT3 skos:exactMatch ncbigene:83850 semapv:UnspecifiedMatching OMIM:616693 ASIC5 skos:exactMatch UMLS:C3469621 semapv:UnspecifiedMatching -OMIM:616693 ASIC5 skos:exactMatch hgnc:ASIC5 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:17537 semapv:UnspecifiedMatching +OMIM:616693 ASIC5 skos:exactMatch hgnc.symbol:ASIC5 semapv:UnspecifiedMatching OMIM:616693 ASIC5 skos:exactMatch ncbigene:51802 semapv:UnspecifiedMatching OMIM:616694 ECPAS skos:exactMatch UMLS:C1428777 semapv:UnspecifiedMatching -OMIM:616694 ECPAS skos:exactMatch hgnc:ECPAS semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:29020 semapv:UnspecifiedMatching +OMIM:616694 ECPAS skos:exactMatch hgnc.symbol:ECPAS semapv:UnspecifiedMatching OMIM:616694 ECPAS skos:exactMatch ncbigene:23392 semapv:UnspecifiedMatching -OMIM:616695 STYXL1 skos:exactMatch hgnc:STYXL1 semapv:UnspecifiedMatching +OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:18165 semapv:UnspecifiedMatching +OMIM:616695 STYXL1 skos:exactMatch hgnc.symbol:STYXL1 semapv:UnspecifiedMatching OMIM:616695 STYXL1 skos:exactMatch ncbigene:51657 semapv:UnspecifiedMatching -OMIM:616696 KIAA0040 skos:exactMatch hgnc:KIAA0040 semapv:UnspecifiedMatching +OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:28950 semapv:UnspecifiedMatching +OMIM:616696 KIAA0040 skos:exactMatch hgnc.symbol:KIAA0040 semapv:UnspecifiedMatching OMIM:616696 KIAA0040 skos:exactMatch ncbigene:9674 semapv:UnspecifiedMatching -OMIM:616698 ZNF593 skos:exactMatch hgnc:ZNF593 semapv:UnspecifiedMatching +OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:30943 semapv:UnspecifiedMatching +OMIM:616698 ZNF593 skos:exactMatch hgnc.symbol:ZNF593 semapv:UnspecifiedMatching OMIM:616698 ZNF593 skos:exactMatch ncbigene:51042 semapv:UnspecifiedMatching -OMIM:616699 COMMD2 skos:exactMatch hgnc:COMMD2 semapv:UnspecifiedMatching +OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:24993 semapv:UnspecifiedMatching +OMIM:616699 COMMD2 skos:exactMatch hgnc.symbol:COMMD2 semapv:UnspecifiedMatching OMIM:616699 COMMD2 skos:exactMatch ncbigene:51122 semapv:UnspecifiedMatching -OMIM:616700 COMMD3 skos:exactMatch hgnc:COMMD3 semapv:UnspecifiedMatching +OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:23332 semapv:UnspecifiedMatching +OMIM:616700 COMMD3 skos:exactMatch hgnc.symbol:COMMD3 semapv:UnspecifiedMatching OMIM:616700 COMMD3 skos:exactMatch ncbigene:23412 semapv:UnspecifiedMatching -OMIM:616701 COMMD4 skos:exactMatch hgnc:COMMD4 semapv:UnspecifiedMatching +OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:26027 semapv:UnspecifiedMatching +OMIM:616701 COMMD4 skos:exactMatch hgnc.symbol:COMMD4 semapv:UnspecifiedMatching OMIM:616701 COMMD4 skos:exactMatch ncbigene:54939 semapv:UnspecifiedMatching -OMIM:616702 ZNF589 skos:exactMatch hgnc:ZNF589 semapv:UnspecifiedMatching +OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:16747 semapv:UnspecifiedMatching +OMIM:616702 ZNF589 skos:exactMatch hgnc.symbol:ZNF589 semapv:UnspecifiedMatching OMIM:616702 ZNF589 skos:exactMatch ncbigene:51385 semapv:UnspecifiedMatching -OMIM:616703 COMMD7 skos:exactMatch hgnc:COMMD7 semapv:UnspecifiedMatching +OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:16223 semapv:UnspecifiedMatching +OMIM:616703 COMMD7 skos:exactMatch hgnc.symbol:COMMD7 semapv:UnspecifiedMatching OMIM:616703 COMMD7 skos:exactMatch ncbigene:149951 semapv:UnspecifiedMatching -OMIM:616704 COMMD10 skos:exactMatch hgnc:COMMD10 semapv:UnspecifiedMatching +OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:30201 semapv:UnspecifiedMatching +OMIM:616704 COMMD10 skos:exactMatch hgnc.symbol:COMMD10 semapv:UnspecifiedMatching OMIM:616704 COMMD10 skos:exactMatch ncbigene:51397 semapv:UnspecifiedMatching -OMIM:616706 PARP11 skos:exactMatch hgnc:PARP11 semapv:UnspecifiedMatching +OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:1186 semapv:UnspecifiedMatching +OMIM:616706 PARP11 skos:exactMatch hgnc.symbol:PARP11 semapv:UnspecifiedMatching OMIM:616706 PARP11 skos:exactMatch ncbigene:57097 semapv:UnspecifiedMatching +OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch UMLS:C4225240 semapv:UnspecifiedMatching -OMIM:616707 deafness, autosomal dominant 68 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:284169 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466943 semapv:UnspecifiedMatching +OMIM:616708 desanto-shinawi syndrome skos:exactMatch Orphanet:466950 semapv:UnspecifiedMatching OMIM:616708 desanto-shinawi syndrome skos:exactMatch UMLS:C4225239 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch orphanet.ordo:284169 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch orphanet.ordo:466943 semapv:UnspecifiedMatching -OMIM:616708 desanto-shinawi syndrome skos:exactMatch orphanet.ordo:466950 semapv:UnspecifiedMatching -OMIM:616709 A4GNT skos:exactMatch hgnc:A4GNT semapv:UnspecifiedMatching +OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:17968 semapv:UnspecifiedMatching +OMIM:616709 A4GNT skos:exactMatch hgnc.symbol:A4GNT semapv:UnspecifiedMatching OMIM:616709 A4GNT skos:exactMatch ncbigene:51146 semapv:UnspecifiedMatching -OMIM:616711 TAOK3 skos:exactMatch hgnc:TAOK3 semapv:UnspecifiedMatching +OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:18133 semapv:UnspecifiedMatching +OMIM:616711 TAOK3 skos:exactMatch hgnc.symbol:TAOK3 semapv:UnspecifiedMatching OMIM:616711 TAOK3 skos:exactMatch ncbigene:51347 semapv:UnspecifiedMatching OMIM:616712 STARD7 skos:exactMatch UMLS:C1425274 semapv:UnspecifiedMatching OMIM:616712 STARD7 skos:exactMatch UMLS:C1842852 semapv:UnspecifiedMatching -OMIM:616712 STARD7 skos:exactMatch hgnc:STARD7 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:18063 semapv:UnspecifiedMatching +OMIM:616712 STARD7 skos:exactMatch hgnc.symbol:STARD7 semapv:UnspecifiedMatching OMIM:616712 STARD7 skos:exactMatch ncbigene:56910 semapv:UnspecifiedMatching -OMIM:616713 PIPOX skos:exactMatch hgnc:PIPOX semapv:UnspecifiedMatching +OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:17804 semapv:UnspecifiedMatching +OMIM:616713 PIPOX skos:exactMatch hgnc.symbol:PIPOX semapv:UnspecifiedMatching OMIM:616713 PIPOX skos:exactMatch ncbigene:51268 semapv:UnspecifiedMatching -OMIM:616714 HBP1 skos:exactMatch hgnc:HBP1 semapv:UnspecifiedMatching +OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:23200 semapv:UnspecifiedMatching +OMIM:616714 HBP1 skos:exactMatch hgnc.symbol:HBP1 semapv:UnspecifiedMatching OMIM:616714 HBP1 skos:exactMatch ncbigene:26959 semapv:UnspecifiedMatching OMIM:616715 TMX2 skos:exactMatch UMLS:C2680492 semapv:UnspecifiedMatching OMIM:616715 TMX2 skos:exactMatch UMLS:C5231480 semapv:UnspecifiedMatching -OMIM:616715 TMX2 skos:exactMatch hgnc:TMX2 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:30739 semapv:UnspecifiedMatching +OMIM:616715 TMX2 skos:exactMatch hgnc.symbol:TMX2 semapv:UnspecifiedMatching OMIM:616715 TMX2 skos:exactMatch ncbigene:51075 semapv:UnspecifiedMatching -OMIM:616717 TEX10 skos:exactMatch hgnc:TEX10 semapv:UnspecifiedMatching +OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:25988 semapv:UnspecifiedMatching +OMIM:616717 TEX10 skos:exactMatch hgnc.symbol:TEX10 semapv:UnspecifiedMatching OMIM:616717 TEX10 skos:exactMatch ncbigene:54881 semapv:UnspecifiedMatching -OMIM:616718 NGRN skos:exactMatch hgnc:NGRN semapv:UnspecifiedMatching +OMIM:616718 NGRN skos:exactMatch hgnc.symbol:18077 semapv:UnspecifiedMatching +OMIM:616718 NGRN skos:exactMatch hgnc.symbol:NGRN semapv:UnspecifiedMatching OMIM:616718 NGRN skos:exactMatch ncbigene:51335 semapv:UnspecifiedMatching OMIM:616725 DDX60L skos:exactMatch UMLS:C2239343 semapv:UnspecifiedMatching -OMIM:616725 DDX60L skos:exactMatch hgnc:DDX60L semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:26429 semapv:UnspecifiedMatching +OMIM:616725 DDX60L skos:exactMatch hgnc.symbol:DDX60L semapv:UnspecifiedMatching OMIM:616725 DDX60L skos:exactMatch ncbigene:91351 semapv:UnspecifiedMatching -OMIM:616727 PHF21B skos:exactMatch hgnc:PHF21B semapv:UnspecifiedMatching +OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:25161 semapv:UnspecifiedMatching +OMIM:616727 PHF21B skos:exactMatch hgnc.symbol:PHF21B semapv:UnspecifiedMatching OMIM:616727 PHF21B skos:exactMatch ncbigene:112885 semapv:UnspecifiedMatching +OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch Orphanet:477993 semapv:UnspecifiedMatching OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch UMLS:C4225229 semapv:UnspecifiedMatching -OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features skos:exactMatch orphanet.ordo:477993 semapv:UnspecifiedMatching -OMIM:616729 OR2W3 skos:exactMatch hgnc:OR2W3 semapv:UnspecifiedMatching +OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:15021 semapv:UnspecifiedMatching +OMIM:616729 OR2W3 skos:exactMatch hgnc.symbol:OR2W3 semapv:UnspecifiedMatching OMIM:616729 OR2W3 skos:exactMatch ncbigene:343171 semapv:UnspecifiedMatching -OMIM:616731 NEK5 skos:exactMatch hgnc:NEK5 semapv:UnspecifiedMatching +OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:7748 semapv:UnspecifiedMatching +OMIM:616731 NEK5 skos:exactMatch hgnc.symbol:NEK5 semapv:UnspecifiedMatching OMIM:616731 NEK5 skos:exactMatch ncbigene:341676 semapv:UnspecifiedMatching -OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc:CCDC174 semapv:UnspecifiedMatching +OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:28033 semapv:UnspecifiedMatching +OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch hgnc.symbol:CCDC174 semapv:UnspecifiedMatching OMIM:616735 coiled-coil domain-containing protein 174: ccdc174 skos:exactMatch ncbigene:51244 semapv:UnspecifiedMatching +OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch Orphanet:487796 semapv:UnspecifiedMatching OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch UMLS:C4225222 semapv:UnspecifiedMatching -OMIM:616737 takenouchi-kosaki syndrome skos:exactMatch orphanet.ordo:487796 semapv:UnspecifiedMatching OMIM:616741 PRDM13 skos:exactMatch UMLS:C1422335 semapv:UnspecifiedMatching -OMIM:616741 PRDM13 skos:exactMatch hgnc:PRDM13 semapv:UnspecifiedMatching +OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:13998 semapv:UnspecifiedMatching +OMIM:616741 PRDM13 skos:exactMatch hgnc.symbol:PRDM13 semapv:UnspecifiedMatching OMIM:616741 PRDM13 skos:exactMatch ncbigene:59336 semapv:UnspecifiedMatching -OMIM:616742 NOP58 skos:exactMatch hgnc:NOP58 semapv:UnspecifiedMatching +OMIM:616742 NOP58 skos:exactMatch hgnc.symbol:29926 semapv:UnspecifiedMatching +OMIM:616742 NOP58 skos:exactMatch hgnc.symbol:NOP58 semapv:UnspecifiedMatching OMIM:616742 NOP58 skos:exactMatch ncbigene:51602 semapv:UnspecifiedMatching -OMIM:616743 RGL3 skos:exactMatch hgnc:RGL3 semapv:UnspecifiedMatching +OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:30282 semapv:UnspecifiedMatching +OMIM:616743 RGL3 skos:exactMatch hgnc.symbol:RGL3 semapv:UnspecifiedMatching OMIM:616743 RGL3 skos:exactMatch ncbigene:57139 semapv:UnspecifiedMatching -OMIM:616745 BOD1 skos:exactMatch hgnc:BOD1 semapv:UnspecifiedMatching +OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:25114 semapv:UnspecifiedMatching +OMIM:616745 BOD1 skos:exactMatch hgnc.symbol:BOD1 semapv:UnspecifiedMatching OMIM:616745 BOD1 skos:exactMatch ncbigene:91272 semapv:UnspecifiedMatching -OMIM:616746 BOD1L1 skos:exactMatch hgnc:BOD1L1 semapv:UnspecifiedMatching +OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:31792 semapv:UnspecifiedMatching +OMIM:616746 BOD1L1 skos:exactMatch hgnc.symbol:BOD1L1 semapv:UnspecifiedMatching OMIM:616746 BOD1L1 skos:exactMatch ncbigene:259282 semapv:UnspecifiedMatching -OMIM:616747 CHPT1 skos:exactMatch hgnc:CHPT1 semapv:UnspecifiedMatching +OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:17852 semapv:UnspecifiedMatching +OMIM:616747 CHPT1 skos:exactMatch hgnc.symbol:CHPT1 semapv:UnspecifiedMatching OMIM:616747 CHPT1 skos:exactMatch ncbigene:56994 semapv:UnspecifiedMatching -OMIM:616748 ENTPD8 skos:exactMatch hgnc:ENTPD8 semapv:UnspecifiedMatching +OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:24860 semapv:UnspecifiedMatching +OMIM:616748 ENTPD8 skos:exactMatch hgnc.symbol:ENTPD8 semapv:UnspecifiedMatching OMIM:616748 ENTPD8 skos:exactMatch ncbigene:377841 semapv:UnspecifiedMatching -OMIM:616750 ZDHHC16 skos:exactMatch hgnc:ZDHHC16 semapv:UnspecifiedMatching +OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:20714 semapv:UnspecifiedMatching +OMIM:616750 ZDHHC16 skos:exactMatch hgnc.symbol:ZDHHC16 semapv:UnspecifiedMatching OMIM:616750 ZDHHC16 skos:exactMatch ncbigene:84287 semapv:UnspecifiedMatching -OMIM:616751 CEPT1 skos:exactMatch hgnc:CEPT1 semapv:UnspecifiedMatching +OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:24289 semapv:UnspecifiedMatching +OMIM:616751 CEPT1 skos:exactMatch hgnc.symbol:CEPT1 semapv:UnspecifiedMatching OMIM:616751 CEPT1 skos:exactMatch ncbigene:10390 semapv:UnspecifiedMatching -OMIM:616752 NSG2 skos:exactMatch hgnc:NSG2 semapv:UnspecifiedMatching +OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:24955 semapv:UnspecifiedMatching +OMIM:616752 NSG2 skos:exactMatch hgnc.symbol:NSG2 semapv:UnspecifiedMatching OMIM:616752 NSG2 skos:exactMatch ncbigene:51617 semapv:UnspecifiedMatching -OMIM:616753 ENTPD7 skos:exactMatch hgnc:ENTPD7 semapv:UnspecifiedMatching +OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:19745 semapv:UnspecifiedMatching +OMIM:616753 ENTPD7 skos:exactMatch hgnc.symbol:ENTPD7 semapv:UnspecifiedMatching OMIM:616753 ENTPD7 skos:exactMatch ncbigene:57089 semapv:UnspecifiedMatching -OMIM:616755 TRIM62 skos:exactMatch hgnc:TRIM62 semapv:UnspecifiedMatching +OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:25574 semapv:UnspecifiedMatching +OMIM:616755 TRIM62 skos:exactMatch hgnc.symbol:TRIM62 semapv:UnspecifiedMatching OMIM:616755 TRIM62 skos:exactMatch ncbigene:55223 semapv:UnspecifiedMatching -OMIM:616757 TMEM150A skos:exactMatch hgnc:TMEM150A semapv:UnspecifiedMatching +OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:24677 semapv:UnspecifiedMatching +OMIM:616757 TMEM150A skos:exactMatch hgnc.symbol:TMEM150A semapv:UnspecifiedMatching OMIM:616757 TMEM150A skos:exactMatch ncbigene:129303 semapv:UnspecifiedMatching -OMIM:616758 KDF1 skos:exactMatch hgnc:KDF1 semapv:UnspecifiedMatching +OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:26624 semapv:UnspecifiedMatching +OMIM:616758 KDF1 skos:exactMatch hgnc.symbol:KDF1 semapv:UnspecifiedMatching OMIM:616758 KDF1 skos:exactMatch ncbigene:126695 semapv:UnspecifiedMatching -OMIM:616759 NOSIP skos:exactMatch hgnc:NOSIP semapv:UnspecifiedMatching +OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:17946 semapv:UnspecifiedMatching +OMIM:616759 NOSIP skos:exactMatch hgnc.symbol:NOSIP semapv:UnspecifiedMatching OMIM:616759 NOSIP skos:exactMatch ncbigene:51070 semapv:UnspecifiedMatching -OMIM:616761 SUSD6 skos:exactMatch hgnc:SUSD6 semapv:UnspecifiedMatching +OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:19956 semapv:UnspecifiedMatching +OMIM:616761 SUSD6 skos:exactMatch hgnc.symbol:SUSD6 semapv:UnspecifiedMatching OMIM:616761 SUSD6 skos:exactMatch ncbigene:9766 semapv:UnspecifiedMatching -OMIM:616762 CCSAP skos:exactMatch hgnc:CCSAP semapv:UnspecifiedMatching +OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:29578 semapv:UnspecifiedMatching +OMIM:616762 CCSAP skos:exactMatch hgnc.symbol:CCSAP semapv:UnspecifiedMatching OMIM:616762 CCSAP skos:exactMatch ncbigene:126731 semapv:UnspecifiedMatching -OMIM:616764 SLC46A3 skos:exactMatch hgnc:SLC46A3 semapv:UnspecifiedMatching +OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:27501 semapv:UnspecifiedMatching +OMIM:616764 SLC46A3 skos:exactMatch hgnc.symbol:SLC46A3 semapv:UnspecifiedMatching OMIM:616764 SLC46A3 skos:exactMatch ncbigene:283537 semapv:UnspecifiedMatching -OMIM:616765 SAMD11 skos:exactMatch hgnc:SAMD11 semapv:UnspecifiedMatching +OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:28706 semapv:UnspecifiedMatching +OMIM:616765 SAMD11 skos:exactMatch hgnc.symbol:SAMD11 semapv:UnspecifiedMatching OMIM:616765 SAMD11 skos:exactMatch ncbigene:148398 semapv:UnspecifiedMatching -OMIM:616766 TMX4 skos:exactMatch hgnc:TMX4 semapv:UnspecifiedMatching +OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:25237 semapv:UnspecifiedMatching +OMIM:616766 TMX4 skos:exactMatch hgnc.symbol:TMX4 semapv:UnspecifiedMatching OMIM:616766 TMX4 skos:exactMatch ncbigene:56255 semapv:UnspecifiedMatching -OMIM:616767 CAPNS2 skos:exactMatch hgnc:CAPNS2 semapv:UnspecifiedMatching +OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:16371 semapv:UnspecifiedMatching +OMIM:616767 CAPNS2 skos:exactMatch hgnc.symbol:CAPNS2 semapv:UnspecifiedMatching OMIM:616767 CAPNS2 skos:exactMatch ncbigene:84290 semapv:UnspecifiedMatching -OMIM:616768 TUBB8 skos:exactMatch hgnc:TUBB8 semapv:UnspecifiedMatching +OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:20773 semapv:UnspecifiedMatching +OMIM:616768 TUBB8 skos:exactMatch hgnc.symbol:TUBB8 semapv:UnspecifiedMatching OMIM:616768 TUBB8 skos:exactMatch ncbigene:347688 semapv:UnspecifiedMatching -OMIM:616769 NIT2 skos:exactMatch hgnc:NIT2 semapv:UnspecifiedMatching +OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:29878 semapv:UnspecifiedMatching +OMIM:616769 NIT2 skos:exactMatch hgnc.symbol:NIT2 semapv:UnspecifiedMatching OMIM:616769 NIT2 skos:exactMatch ncbigene:56954 semapv:UnspecifiedMatching -OMIM:616770 MIR218-1 skos:exactMatch hgnc:MIR218-1 semapv:UnspecifiedMatching +OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:31595 semapv:UnspecifiedMatching +OMIM:616770 MIR218-1 skos:exactMatch hgnc.symbol:MIR218-1 semapv:UnspecifiedMatching OMIM:616770 MIR218-1 skos:exactMatch ncbigene:407000 semapv:UnspecifiedMatching -OMIM:616771 MIR218-2 skos:exactMatch hgnc:MIR218-2 semapv:UnspecifiedMatching +OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:31596 semapv:UnspecifiedMatching +OMIM:616771 MIR218-2 skos:exactMatch hgnc.symbol:MIR218-2 semapv:UnspecifiedMatching OMIM:616771 MIR218-2 skos:exactMatch ncbigene:407001 semapv:UnspecifiedMatching -OMIM:616772 MAN1C1 skos:exactMatch hgnc:MAN1C1 semapv:UnspecifiedMatching +OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:19080 semapv:UnspecifiedMatching +OMIM:616772 MAN1C1 skos:exactMatch hgnc.symbol:MAN1C1 semapv:UnspecifiedMatching OMIM:616772 MAN1C1 skos:exactMatch ncbigene:57134 semapv:UnspecifiedMatching -OMIM:616773 MIGA1 skos:exactMatch hgnc:MIGA1 semapv:UnspecifiedMatching +OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:24741 semapv:UnspecifiedMatching +OMIM:616773 MIGA1 skos:exactMatch hgnc.symbol:MIGA1 semapv:UnspecifiedMatching OMIM:616773 MIGA1 skos:exactMatch ncbigene:374986 semapv:UnspecifiedMatching -OMIM:616774 MIGA2 skos:exactMatch hgnc:MIGA2 semapv:UnspecifiedMatching +OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:23621 semapv:UnspecifiedMatching +OMIM:616774 MIGA2 skos:exactMatch hgnc.symbol:MIGA2 semapv:UnspecifiedMatching OMIM:616774 MIGA2 skos:exactMatch ncbigene:84895 semapv:UnspecifiedMatching -OMIM:616775 ZNF683 skos:exactMatch hgnc:ZNF683 semapv:UnspecifiedMatching +OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:28495 semapv:UnspecifiedMatching +OMIM:616775 ZNF683 skos:exactMatch hgnc.symbol:ZNF683 semapv:UnspecifiedMatching OMIM:616775 ZNF683 skos:exactMatch ncbigene:257101 semapv:UnspecifiedMatching -OMIM:616776 DUSP15 skos:exactMatch hgnc:DUSP15 semapv:UnspecifiedMatching +OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:16236 semapv:UnspecifiedMatching +OMIM:616776 DUSP15 skos:exactMatch hgnc.symbol:DUSP15 semapv:UnspecifiedMatching OMIM:616776 DUSP15 skos:exactMatch ncbigene:128853 semapv:UnspecifiedMatching -OMIM:616778 DUSP22 skos:exactMatch hgnc:DUSP22 semapv:UnspecifiedMatching +OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:16077 semapv:UnspecifiedMatching +OMIM:616778 DUSP22 skos:exactMatch hgnc.symbol:DUSP22 semapv:UnspecifiedMatching OMIM:616778 DUSP22 skos:exactMatch ncbigene:56940 semapv:UnspecifiedMatching -OMIM:616782 GCNT4 skos:exactMatch hgnc:GCNT4 semapv:UnspecifiedMatching +OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:17973 semapv:UnspecifiedMatching +OMIM:616782 GCNT4 skos:exactMatch hgnc.symbol:GCNT4 semapv:UnspecifiedMatching OMIM:616782 GCNT4 skos:exactMatch ncbigene:51301 semapv:UnspecifiedMatching -OMIM:616783 UBXN10 skos:exactMatch hgnc:UBXN10 semapv:UnspecifiedMatching +OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:26354 semapv:UnspecifiedMatching +OMIM:616783 UBXN10 skos:exactMatch hgnc.symbol:UBXN10 semapv:UnspecifiedMatching OMIM:616783 UBXN10 skos:exactMatch ncbigene:127733 semapv:UnspecifiedMatching +OMIM:616784 joubert syndrome 26 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching OMIM:616784 joubert syndrome 26 skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching -OMIM:616784 joubert syndrome 26 skos:exactMatch orphanet.ordo:475 semapv:UnspecifiedMatching -OMIM:616785 PHTF2 skos:exactMatch hgnc:PHTF2 semapv:UnspecifiedMatching +OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:13411 semapv:UnspecifiedMatching +OMIM:616785 PHTF2 skos:exactMatch hgnc.symbol:PHTF2 semapv:UnspecifiedMatching OMIM:616785 PHTF2 skos:exactMatch ncbigene:57157 semapv:UnspecifiedMatching -OMIM:616786 MAPKBP1 skos:exactMatch hgnc:MAPKBP1 semapv:UnspecifiedMatching +OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:29536 semapv:UnspecifiedMatching +OMIM:616786 MAPKBP1 skos:exactMatch hgnc.symbol:MAPKBP1 semapv:UnspecifiedMatching OMIM:616786 MAPKBP1 skos:exactMatch ncbigene:23005 semapv:UnspecifiedMatching -OMIM:616787 CLUAP1 skos:exactMatch hgnc:CLUAP1 semapv:UnspecifiedMatching +OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:19009 semapv:UnspecifiedMatching +OMIM:616787 CLUAP1 skos:exactMatch hgnc.symbol:CLUAP1 semapv:UnspecifiedMatching OMIM:616787 CLUAP1 skos:exactMatch ncbigene:23059 semapv:UnspecifiedMatching -OMIM:616790 PPP4R4 skos:exactMatch hgnc:PPP4R4 semapv:UnspecifiedMatching +OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:23788 semapv:UnspecifiedMatching +OMIM:616790 PPP4R4 skos:exactMatch hgnc.symbol:PPP4R4 semapv:UnspecifiedMatching OMIM:616790 PPP4R4 skos:exactMatch ncbigene:57718 semapv:UnspecifiedMatching -OMIM:616791 PGBD5 skos:exactMatch hgnc:PGBD5 semapv:UnspecifiedMatching +OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:19405 semapv:UnspecifiedMatching +OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:PGBD5 semapv:UnspecifiedMatching OMIM:616791 PGBD5 skos:exactMatch ncbigene:79605 semapv:UnspecifiedMatching -OMIM:616793 PLA2G2F skos:exactMatch hgnc:PLA2G2F semapv:UnspecifiedMatching +OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:30040 semapv:UnspecifiedMatching +OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:PLA2G2F semapv:UnspecifiedMatching OMIM:616793 PLA2G2F skos:exactMatch ncbigene:64600 semapv:UnspecifiedMatching -OMIM:616796 RDH14 skos:exactMatch hgnc:RDH14 semapv:UnspecifiedMatching +OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:19979 semapv:UnspecifiedMatching +OMIM:616796 RDH14 skos:exactMatch hgnc.symbol:RDH14 semapv:UnspecifiedMatching OMIM:616796 RDH14 skos:exactMatch ncbigene:57665 semapv:UnspecifiedMatching -OMIM:616797 EFR3B skos:exactMatch hgnc:EFR3B semapv:UnspecifiedMatching +OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:29155 semapv:UnspecifiedMatching +OMIM:616797 EFR3B skos:exactMatch hgnc.symbol:EFR3B semapv:UnspecifiedMatching OMIM:616797 EFR3B skos:exactMatch ncbigene:22979 semapv:UnspecifiedMatching -OMIM:616798 ZFP28 skos:exactMatch hgnc:ZFP28 semapv:UnspecifiedMatching +OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:17801 semapv:UnspecifiedMatching +OMIM:616798 ZFP28 skos:exactMatch hgnc.symbol:ZFP28 semapv:UnspecifiedMatching OMIM:616798 ZFP28 skos:exactMatch ncbigene:140612 semapv:UnspecifiedMatching -OMIM:616799 SYCP2L skos:exactMatch hgnc:SYCP2L semapv:UnspecifiedMatching +OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:21537 semapv:UnspecifiedMatching +OMIM:616799 SYCP2L skos:exactMatch hgnc.symbol:SYCP2L semapv:UnspecifiedMatching OMIM:616799 SYCP2L skos:exactMatch ncbigene:221711 semapv:UnspecifiedMatching -OMIM:616800 LOXL1AS1 skos:exactMatch hgnc:LOXL1-AS1 semapv:UnspecifiedMatching +OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:44169 semapv:UnspecifiedMatching +OMIM:616800 LOXL1AS1 skos:exactMatch hgnc.symbol:LOXL1-AS1 semapv:UnspecifiedMatching OMIM:616800 LOXL1AS1 skos:exactMatch ncbigene:100287616 semapv:UnspecifiedMatching -OMIM:616802 TARM1 skos:exactMatch hgnc:TARM1 semapv:UnspecifiedMatching +OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:37250 semapv:UnspecifiedMatching +OMIM:616802 TARM1 skos:exactMatch hgnc.symbol:TARM1 semapv:UnspecifiedMatching OMIM:616802 TARM1 skos:exactMatch ncbigene:441864 semapv:UnspecifiedMatching -OMIM:616804 VSTM1 skos:exactMatch hgnc:VSTM1 semapv:UnspecifiedMatching +OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:29455 semapv:UnspecifiedMatching +OMIM:616804 VSTM1 skos:exactMatch hgnc.symbol:VSTM1 semapv:UnspecifiedMatching OMIM:616804 VSTM1 skos:exactMatch ncbigene:284415 semapv:UnspecifiedMatching -OMIM:616805 MYCT1 skos:exactMatch hgnc:MYCT1 semapv:UnspecifiedMatching +OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:23172 semapv:UnspecifiedMatching +OMIM:616805 MYCT1 skos:exactMatch hgnc.symbol:MYCT1 semapv:UnspecifiedMatching OMIM:616805 MYCT1 skos:exactMatch ncbigene:80177 semapv:UnspecifiedMatching +OMIM:616806 wilms tumor 6 skos:exactMatch Orphanet:654 semapv:UnspecifiedMatching OMIM:616806 wilms tumor 6 skos:exactMatch UMLS:C3891301 semapv:UnspecifiedMatching -OMIM:616806 wilms tumor 6 skos:exactMatch orphanet.ordo:654 semapv:UnspecifiedMatching -OMIM:616807 FBF1 skos:exactMatch hgnc:FBF1 semapv:UnspecifiedMatching +OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:24674 semapv:UnspecifiedMatching +OMIM:616807 FBF1 skos:exactMatch hgnc.symbol:FBF1 semapv:UnspecifiedMatching OMIM:616807 FBF1 skos:exactMatch ncbigene:85302 semapv:UnspecifiedMatching -OMIM:616808 SHFL skos:exactMatch hgnc:SHFL semapv:UnspecifiedMatching +OMIM:616808 SHFL skos:exactMatch hgnc.symbol:25649 semapv:UnspecifiedMatching +OMIM:616808 SHFL skos:exactMatch hgnc.symbol:SHFL semapv:UnspecifiedMatching OMIM:616808 SHFL skos:exactMatch ncbigene:55337 semapv:UnspecifiedMatching -OMIM:616810 IGDCC4 skos:exactMatch hgnc:IGDCC4 semapv:UnspecifiedMatching +OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:13770 semapv:UnspecifiedMatching +OMIM:616810 IGDCC4 skos:exactMatch hgnc.symbol:IGDCC4 semapv:UnspecifiedMatching OMIM:616810 IGDCC4 skos:exactMatch ncbigene:57722 semapv:UnspecifiedMatching -OMIM:616813 AGAP3 skos:exactMatch hgnc:AGAP3 semapv:UnspecifiedMatching +OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:16923 semapv:UnspecifiedMatching +OMIM:616813 AGAP3 skos:exactMatch hgnc.symbol:AGAP3 semapv:UnspecifiedMatching OMIM:616813 AGAP3 skos:exactMatch ncbigene:116988 semapv:UnspecifiedMatching OMIM:616814 oocyte/zygote/embryo maturation arrest 15 skos:exactMatch UMLS:C4225197 semapv:UnspecifiedMatching -OMIM:616815 TMEM199 skos:exactMatch hgnc:TMEM199 semapv:UnspecifiedMatching +OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:18085 semapv:UnspecifiedMatching +OMIM:616815 TMEM199 skos:exactMatch hgnc.symbol:TMEM199 semapv:UnspecifiedMatching OMIM:616815 TMEM199 skos:exactMatch ncbigene:147007 semapv:UnspecifiedMatching -OMIM:616820 MTHFSD skos:exactMatch hgnc:MTHFSD semapv:UnspecifiedMatching +OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:25778 semapv:UnspecifiedMatching +OMIM:616820 MTHFSD skos:exactMatch hgnc.symbol:MTHFSD semapv:UnspecifiedMatching OMIM:616820 MTHFSD skos:exactMatch ncbigene:64779 semapv:UnspecifiedMatching OMIM:616821 THSD1 skos:exactMatch UMLS:C1425063 semapv:UnspecifiedMatching OMIM:616821 THSD1 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching -OMIM:616821 THSD1 skos:exactMatch hgnc:THSD1 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:17754 semapv:UnspecifiedMatching +OMIM:616821 THSD1 skos:exactMatch hgnc.symbol:THSD1 semapv:UnspecifiedMatching OMIM:616821 THSD1 skos:exactMatch ncbigene:55901 semapv:UnspecifiedMatching OMIM:616822 MON2 skos:exactMatch UMLS:C1826264 semapv:UnspecifiedMatching -OMIM:616822 MON2 skos:exactMatch hgnc:MON2 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch hgnc.symbol:29177 semapv:UnspecifiedMatching +OMIM:616822 MON2 skos:exactMatch hgnc.symbol:MON2 semapv:UnspecifiedMatching OMIM:616822 MON2 skos:exactMatch ncbigene:23041 semapv:UnspecifiedMatching OMIM:616823 DOP1A skos:exactMatch UMLS:C1824958 semapv:UnspecifiedMatching -OMIM:616823 DOP1A skos:exactMatch hgnc:DOP1A semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:21194 semapv:UnspecifiedMatching +OMIM:616823 DOP1A skos:exactMatch hgnc.symbol:DOP1A semapv:UnspecifiedMatching OMIM:616823 DOP1A skos:exactMatch ncbigene:23033 semapv:UnspecifiedMatching -OMIM:616824 TRNP1 skos:exactMatch hgnc:TRNP1 semapv:UnspecifiedMatching +OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:34348 semapv:UnspecifiedMatching +OMIM:616824 TRNP1 skos:exactMatch hgnc.symbol:TRNP1 semapv:UnspecifiedMatching OMIM:616824 TRNP1 skos:exactMatch ncbigene:388610 semapv:UnspecifiedMatching -OMIM:616825 NCOA5 skos:exactMatch hgnc:NCOA5 semapv:UnspecifiedMatching +OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:15909 semapv:UnspecifiedMatching +OMIM:616825 NCOA5 skos:exactMatch hgnc.symbol:NCOA5 semapv:UnspecifiedMatching OMIM:616825 NCOA5 skos:exactMatch ncbigene:57727 semapv:UnspecifiedMatching -OMIM:616826 EPS15L1 skos:exactMatch hgnc:EPS15L1 semapv:UnspecifiedMatching +OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:24634 semapv:UnspecifiedMatching +OMIM:616826 EPS15L1 skos:exactMatch hgnc.symbol:EPS15L1 semapv:UnspecifiedMatching OMIM:616826 EPS15L1 skos:exactMatch ncbigene:58513 semapv:UnspecifiedMatching -OMIM:616830 TANGO2 skos:exactMatch hgnc:TANGO2 semapv:UnspecifiedMatching +OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:25439 semapv:UnspecifiedMatching +OMIM:616830 TANGO2 skos:exactMatch hgnc.symbol:TANGO2 semapv:UnspecifiedMatching OMIM:616830 TANGO2 skos:exactMatch ncbigene:128989 semapv:UnspecifiedMatching -OMIM:616832 MYOM3 skos:exactMatch hgnc:MYOM3 semapv:UnspecifiedMatching +OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:26679 semapv:UnspecifiedMatching +OMIM:616832 MYOM3 skos:exactMatch hgnc.symbol:MYOM3 semapv:UnspecifiedMatching OMIM:616832 MYOM3 skos:exactMatch ncbigene:127294 semapv:UnspecifiedMatching +OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch Orphanet:2554 semapv:UnspecifiedMatching OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch UMLS:C4225188 semapv:UnspecifiedMatching -OMIM:616835 meier-gorlin syndrome 6 skos:exactMatch orphanet.ordo:2554 semapv:UnspecifiedMatching -OMIM:616836 GPATCH2 skos:exactMatch hgnc:GPATCH2 semapv:UnspecifiedMatching +OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:25499 semapv:UnspecifiedMatching +OMIM:616836 GPATCH2 skos:exactMatch hgnc.symbol:GPATCH2 semapv:UnspecifiedMatching OMIM:616836 GPATCH2 skos:exactMatch ncbigene:55105 semapv:UnspecifiedMatching OMIM:616837 human pluripotency-associated transcript 5, noncoding skos:exactMatch ncbigene:112590798 semapv:UnspecifiedMatching -OMIM:616838 CLEC17A skos:exactMatch hgnc:CLEC17A semapv:UnspecifiedMatching +OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:34520 semapv:UnspecifiedMatching +OMIM:616838 CLEC17A skos:exactMatch hgnc.symbol:CLEC17A semapv:UnspecifiedMatching OMIM:616838 CLEC17A skos:exactMatch ncbigene:388512 semapv:UnspecifiedMatching OMIM:616839 exercise intolerance, riboflavin-responsive skos:exactMatch UMLS:C4225187 semapv:UnspecifiedMatching +OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch Orphanet:2828 semapv:UnspecifiedMatching OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch UMLS:C4225186 semapv:UnspecifiedMatching -OMIM:616840 parkinson disease 23, autosomal recessive early-onset skos:exactMatch orphanet.ordo:2828 semapv:UnspecifiedMatching -OMIM:616841 ZNF468 skos:exactMatch hgnc:ZNF468 semapv:UnspecifiedMatching +OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:33105 semapv:UnspecifiedMatching +OMIM:616841 ZNF468 skos:exactMatch hgnc.symbol:ZNF468 semapv:UnspecifiedMatching OMIM:616841 ZNF468 skos:exactMatch ncbigene:90333 semapv:UnspecifiedMatching OMIM:616842 DHS6S1 skos:exactMatch ncbigene:111365204 semapv:UnspecifiedMatching OMIM:616843 lymphatic malformation 6 skos:exactMatch UMLS:C4225184 semapv:UnspecifiedMatching -OMIM:616844 DNAJC17 skos:exactMatch hgnc:DNAJC17 semapv:UnspecifiedMatching +OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:25556 semapv:UnspecifiedMatching +OMIM:616844 DNAJC17 skos:exactMatch hgnc.symbol:DNAJC17 semapv:UnspecifiedMatching OMIM:616844 DNAJC17 skos:exactMatch ncbigene:55192 semapv:UnspecifiedMatching -OMIM:616845 CLEC14A skos:exactMatch hgnc:CLEC14A semapv:UnspecifiedMatching +OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:19832 semapv:UnspecifiedMatching +OMIM:616845 CLEC14A skos:exactMatch hgnc.symbol:CLEC14A semapv:UnspecifiedMatching OMIM:616845 CLEC14A skos:exactMatch ncbigene:161198 semapv:UnspecifiedMatching -OMIM:616846 EMC1 skos:exactMatch hgnc:EMC1 semapv:UnspecifiedMatching +OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:28957 semapv:UnspecifiedMatching +OMIM:616846 EMC1 skos:exactMatch hgnc.symbol:EMC1 semapv:UnspecifiedMatching OMIM:616846 EMC1 skos:exactMatch ncbigene:23065 semapv:UnspecifiedMatching -OMIM:616847 ZNF543 skos:exactMatch hgnc:ZNF543 semapv:UnspecifiedMatching +OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:25281 semapv:UnspecifiedMatching +OMIM:616847 ZNF543 skos:exactMatch hgnc.symbol:ZNF543 semapv:UnspecifiedMatching OMIM:616847 ZNF543 skos:exactMatch ncbigene:125919 semapv:UnspecifiedMatching -OMIM:616848 MIER1 skos:exactMatch hgnc:MIER1 semapv:UnspecifiedMatching +OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:29657 semapv:UnspecifiedMatching +OMIM:616848 MIER1 skos:exactMatch hgnc.symbol:MIER1 semapv:UnspecifiedMatching OMIM:616848 MIER1 skos:exactMatch ncbigene:57708 semapv:UnspecifiedMatching -OMIM:616850 WDR83 skos:exactMatch hgnc:WDR83 semapv:UnspecifiedMatching +OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:32672 semapv:UnspecifiedMatching +OMIM:616850 WDR83 skos:exactMatch hgnc.symbol:WDR83 semapv:UnspecifiedMatching OMIM:616850 WDR83 skos:exactMatch ncbigene:84292 semapv:UnspecifiedMatching -OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc:FAM72C semapv:UnspecifiedMatching +OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:30602 semapv:UnspecifiedMatching +OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch hgnc.symbol:FAM72C semapv:UnspecifiedMatching OMIM:616853 family with sequence similarity 72, member c: fam72c skos:exactMatch ncbigene:554282 semapv:UnspecifiedMatching -OMIM:616855 COX8C skos:exactMatch hgnc:COX8C semapv:UnspecifiedMatching +OMIM:616855 COX8C skos:exactMatch hgnc.symbol:24382 semapv:UnspecifiedMatching +OMIM:616855 COX8C skos:exactMatch hgnc.symbol:COX8C semapv:UnspecifiedMatching OMIM:616855 COX8C skos:exactMatch ncbigene:341947 semapv:UnspecifiedMatching -OMIM:616856 BRPF3 skos:exactMatch hgnc:BRPF3 semapv:UnspecifiedMatching +OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:14256 semapv:UnspecifiedMatching +OMIM:616856 BRPF3 skos:exactMatch hgnc.symbol:BRPF3 semapv:UnspecifiedMatching OMIM:616856 BRPF3 skos:exactMatch ncbigene:27154 semapv:UnspecifiedMatching -OMIM:616857 CLCA4 skos:exactMatch hgnc:CLCA4 semapv:UnspecifiedMatching +OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:2018 semapv:UnspecifiedMatching +OMIM:616857 CLCA4 skos:exactMatch hgnc.symbol:CLCA4 semapv:UnspecifiedMatching OMIM:616857 CLCA4 skos:exactMatch ncbigene:22802 semapv:UnspecifiedMatching +OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch Orphanet:255132 semapv:UnspecifiedMatching OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch UMLS:C4225155 semapv:UnspecifiedMatching -OMIM:616860 anemia, sideroblastic, 3, pyridoxine-refractory skos:exactMatch orphanet.ordo:255132 semapv:UnspecifiedMatching -OMIM:616861 SLC12A9 skos:exactMatch hgnc:SLC12A9 semapv:UnspecifiedMatching +OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:17435 semapv:UnspecifiedMatching +OMIM:616861 SLC12A9 skos:exactMatch hgnc.symbol:SLC12A9 semapv:UnspecifiedMatching OMIM:616861 SLC12A9 skos:exactMatch ncbigene:56996 semapv:UnspecifiedMatching -OMIM:616862 RPL34 skos:exactMatch hgnc:RPL34 semapv:UnspecifiedMatching +OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:10340 semapv:UnspecifiedMatching +OMIM:616862 RPL34 skos:exactMatch hgnc.symbol:RPL34 semapv:UnspecifiedMatching OMIM:616862 RPL34 skos:exactMatch ncbigene:6164 semapv:UnspecifiedMatching +OMIM:616863 hao-fountain syndrome skos:exactMatch Orphanet:500055 semapv:UnspecifiedMatching OMIM:616863 hao-fountain syndrome skos:exactMatch UMLS:C5393908 semapv:UnspecifiedMatching -OMIM:616863 hao-fountain syndrome skos:exactMatch orphanet.ordo:500055 semapv:UnspecifiedMatching -OMIM:616864 HEXD skos:exactMatch hgnc:HEXD semapv:UnspecifiedMatching +OMIM:616864 HEXD skos:exactMatch hgnc.symbol:26307 semapv:UnspecifiedMatching +OMIM:616864 HEXD skos:exactMatch hgnc.symbol:HEXD semapv:UnspecifiedMatching OMIM:616864 HEXD skos:exactMatch ncbigene:284004 semapv:UnspecifiedMatching -OMIM:616865 PAPOLG skos:exactMatch hgnc:PAPOLG semapv:UnspecifiedMatching +OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:14982 semapv:UnspecifiedMatching +OMIM:616865 PAPOLG skos:exactMatch hgnc.symbol:PAPOLG semapv:UnspecifiedMatching OMIM:616865 PAPOLG skos:exactMatch ncbigene:64895 semapv:UnspecifiedMatching +OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C1849101 semapv:UnspecifiedMatching OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch UMLS:C4225177 semapv:UnspecifiedMatching -OMIM:616866 spinal muscular atrophy with congenital bone fractures 1 skos:exactMatch orphanet.ordo:486811 semapv:UnspecifiedMatching +OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch Orphanet:486811 semapv:UnspecifiedMatching OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch UMLS:C4225176 semapv:UnspecifiedMatching -OMIM:616867 spinal muscular atrophy with congenital bone fractures 2 skos:exactMatch orphanet.ordo:486811 semapv:UnspecifiedMatching +OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch Orphanet:103908 semapv:UnspecifiedMatching OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch UMLS:C0267663 semapv:UnspecifiedMatching -OMIM:616868 diarrhea 8, secretory sodium, congenital skos:exactMatch orphanet.ordo:103908 semapv:UnspecifiedMatching -OMIM:616869 CNEP1R1 skos:exactMatch hgnc:CNEP1R1 semapv:UnspecifiedMatching +OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:26759 semapv:UnspecifiedMatching +OMIM:616869 CNEP1R1 skos:exactMatch hgnc.symbol:CNEP1R1 semapv:UnspecifiedMatching OMIM:616869 CNEP1R1 skos:exactMatch ncbigene:255919 semapv:UnspecifiedMatching -OMIM:616870 TMEM14A skos:exactMatch hgnc:TMEM14A semapv:UnspecifiedMatching +OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:21076 semapv:UnspecifiedMatching +OMIM:616870 TMEM14A skos:exactMatch hgnc.symbol:TMEM14A semapv:UnspecifiedMatching OMIM:616870 TMEM14A skos:exactMatch ncbigene:28978 semapv:UnspecifiedMatching +OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch Orphanet:488647 semapv:UnspecifiedMatching OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch UMLS:C4225174 semapv:UnspecifiedMatching -OMIM:616871 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to skos:exactMatch orphanet.ordo:488647 semapv:UnspecifiedMatching -OMIM:616872 TM9SF3 skos:exactMatch hgnc:TM9SF3 semapv:UnspecifiedMatching +OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:21529 semapv:UnspecifiedMatching +OMIM:616872 TM9SF3 skos:exactMatch hgnc.symbol:TM9SF3 semapv:UnspecifiedMatching OMIM:616872 TM9SF3 skos:exactMatch ncbigene:56889 semapv:UnspecifiedMatching -OMIM:616874 TMBIM4 skos:exactMatch hgnc:TMBIM4 semapv:UnspecifiedMatching +OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:24257 semapv:UnspecifiedMatching +OMIM:616874 TMBIM4 skos:exactMatch hgnc.symbol:TMBIM4 semapv:UnspecifiedMatching OMIM:616874 TMBIM4 skos:exactMatch ncbigene:51643 semapv:UnspecifiedMatching -OMIM:616876 TMED5 skos:exactMatch hgnc:TMED5 semapv:UnspecifiedMatching +OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:24251 semapv:UnspecifiedMatching +OMIM:616876 TMED5 skos:exactMatch hgnc.symbol:TMED5 semapv:UnspecifiedMatching OMIM:616876 TMED5 skos:exactMatch ncbigene:50999 semapv:UnspecifiedMatching -OMIM:616877 TMEM9 skos:exactMatch hgnc:TMEM9 semapv:UnspecifiedMatching +OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:18823 semapv:UnspecifiedMatching +OMIM:616877 TMEM9 skos:exactMatch hgnc.symbol:TMEM9 semapv:UnspecifiedMatching OMIM:616877 TMEM9 skos:exactMatch ncbigene:252839 semapv:UnspecifiedMatching -OMIM:616879 TBC1D22A skos:exactMatch hgnc:TBC1D22A semapv:UnspecifiedMatching +OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:1309 semapv:UnspecifiedMatching +OMIM:616879 TBC1D22A skos:exactMatch hgnc.symbol:TBC1D22A semapv:UnspecifiedMatching OMIM:616879 TBC1D22A skos:exactMatch ncbigene:25771 semapv:UnspecifiedMatching -OMIM:616880 TBC1D22B skos:exactMatch hgnc:TBC1D22B semapv:UnspecifiedMatching +OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:21602 semapv:UnspecifiedMatching +OMIM:616880 TBC1D22B skos:exactMatch hgnc.symbol:TBC1D22B semapv:UnspecifiedMatching OMIM:616880 TBC1D22B skos:exactMatch ncbigene:55633 semapv:UnspecifiedMatching -OMIM:616883 SRPRB skos:exactMatch hgnc:SRPRB semapv:UnspecifiedMatching +OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:24085 semapv:UnspecifiedMatching +OMIM:616883 SRPRB skos:exactMatch hgnc.symbol:SRPRB semapv:UnspecifiedMatching OMIM:616883 SRPRB skos:exactMatch ncbigene:58477 semapv:UnspecifiedMatching -OMIM:616884 UNC79 skos:exactMatch hgnc:UNC79 semapv:UnspecifiedMatching +OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:19966 semapv:UnspecifiedMatching +OMIM:616884 UNC79 skos:exactMatch hgnc.symbol:UNC79 semapv:UnspecifiedMatching OMIM:616884 UNC79 skos:exactMatch ncbigene:57578 semapv:UnspecifiedMatching -OMIM:616885 CARHSP1 skos:exactMatch hgnc:CARHSP1 semapv:UnspecifiedMatching +OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:17150 semapv:UnspecifiedMatching +OMIM:616885 CARHSP1 skos:exactMatch hgnc.symbol:CARHSP1 semapv:UnspecifiedMatching OMIM:616885 CARHSP1 skos:exactMatch ncbigene:23589 semapv:UnspecifiedMatching -OMIM:616886 GSE1 skos:exactMatch hgnc:GSE1 semapv:UnspecifiedMatching +OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:28979 semapv:UnspecifiedMatching +OMIM:616886 GSE1 skos:exactMatch hgnc.symbol:GSE1 semapv:UnspecifiedMatching OMIM:616886 GSE1 skos:exactMatch ncbigene:23199 semapv:UnspecifiedMatching -OMIM:616888 TMEM8B skos:exactMatch hgnc:TMEM8B semapv:UnspecifiedMatching +OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:21427 semapv:UnspecifiedMatching +OMIM:616888 TMEM8B skos:exactMatch hgnc.symbol:TMEM8B semapv:UnspecifiedMatching OMIM:616888 TMEM8B skos:exactMatch ncbigene:51754 semapv:UnspecifiedMatching -OMIM:616889 CEP68 skos:exactMatch hgnc:CEP68 semapv:UnspecifiedMatching +OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:29076 semapv:UnspecifiedMatching +OMIM:616889 CEP68 skos:exactMatch hgnc.symbol:CEP68 semapv:UnspecifiedMatching OMIM:616889 CEP68 skos:exactMatch ncbigene:23177 semapv:UnspecifiedMatching -OMIM:616891 STRIT1 skos:exactMatch hgnc:STRIT1 semapv:UnspecifiedMatching +OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:52297 semapv:UnspecifiedMatching +OMIM:616891 STRIT1 skos:exactMatch hgnc.symbol:STRIT1 semapv:UnspecifiedMatching OMIM:616891 STRIT1 skos:exactMatch ncbigene:100507537 semapv:UnspecifiedMatching +OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch UMLS:C4225165 semapv:UnspecifiedMatching -OMIM:616893 nephrotic syndrome, iia 13 skos:exactMatch orphanet.ordo:656 semapv:UnspecifiedMatching -OMIM:616895 SAMMSON skos:exactMatch hgnc:SAMMSON semapv:UnspecifiedMatching +OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:49644 semapv:UnspecifiedMatching +OMIM:616895 SAMMSON skos:exactMatch hgnc.symbol:SAMMSON semapv:UnspecifiedMatching OMIM:616895 SAMMSON skos:exactMatch ncbigene:101927152 semapv:UnspecifiedMatching OMIM:616896 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) skos:exactMatch UMLS:C4225163 semapv:UnspecifiedMatching +OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch Orphanet:457378 semapv:UnspecifiedMatching OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch UMLS:C4225162 semapv:UnspecifiedMatching -OMIM:616897 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia skos:exactMatch orphanet.ordo:457378 semapv:UnspecifiedMatching -OMIM:616899 TBCK skos:exactMatch hgnc:TBCK semapv:UnspecifiedMatching +OMIM:616899 TBCK skos:exactMatch hgnc.symbol:28261 semapv:UnspecifiedMatching +OMIM:616899 TBCK skos:exactMatch hgnc.symbol:TBCK semapv:UnspecifiedMatching OMIM:616899 TBCK skos:exactMatch ncbigene:93627 semapv:UnspecifiedMatching -OMIM:616904 DOCK5 skos:exactMatch hgnc:DOCK5 semapv:UnspecifiedMatching +OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:23476 semapv:UnspecifiedMatching +OMIM:616904 DOCK5 skos:exactMatch hgnc.symbol:DOCK5 semapv:UnspecifiedMatching OMIM:616904 DOCK5 skos:exactMatch ncbigene:80005 semapv:UnspecifiedMatching -OMIM:616905 MRFAP1 skos:exactMatch hgnc:MRFAP1 semapv:UnspecifiedMatching +OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:24549 semapv:UnspecifiedMatching +OMIM:616905 MRFAP1 skos:exactMatch hgnc.symbol:MRFAP1 semapv:UnspecifiedMatching OMIM:616905 MRFAP1 skos:exactMatch ncbigene:93621 semapv:UnspecifiedMatching -OMIM:616906 CASC1 skos:exactMatch hgnc:DNAI7 semapv:UnspecifiedMatching +OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:29599 semapv:UnspecifiedMatching +OMIM:616906 CASC1 skos:exactMatch hgnc.symbol:DNAI7 semapv:UnspecifiedMatching OMIM:616906 CASC1 skos:exactMatch ncbigene:55259 semapv:UnspecifiedMatching -OMIM:616908 PTCHD4 skos:exactMatch hgnc:PTCHD4 semapv:UnspecifiedMatching +OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:21345 semapv:UnspecifiedMatching +OMIM:616908 PTCHD4 skos:exactMatch hgnc.symbol:PTCHD4 semapv:UnspecifiedMatching OMIM:616908 PTCHD4 skos:exactMatch ncbigene:442213 semapv:UnspecifiedMatching -OMIM:616909 CCDC68 skos:exactMatch hgnc:CCDC68 semapv:UnspecifiedMatching +OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:24350 semapv:UnspecifiedMatching +OMIM:616909 CCDC68 skos:exactMatch hgnc.symbol:CCDC68 semapv:UnspecifiedMatching OMIM:616909 CCDC68 skos:exactMatch ncbigene:80323 semapv:UnspecifiedMatching -OMIM:616912 EVL skos:exactMatch hgnc:EVL semapv:UnspecifiedMatching +OMIM:616912 EVL skos:exactMatch hgnc.symbol:20234 semapv:UnspecifiedMatching +OMIM:616912 EVL skos:exactMatch hgnc.symbol:EVL semapv:UnspecifiedMatching OMIM:616912 EVL skos:exactMatch ncbigene:51466 semapv:UnspecifiedMatching -OMIM:616916 SMAP2 skos:exactMatch hgnc:SMAP2 semapv:UnspecifiedMatching +OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:25082 semapv:UnspecifiedMatching +OMIM:616916 SMAP2 skos:exactMatch hgnc.symbol:SMAP2 semapv:UnspecifiedMatching OMIM:616916 SMAP2 skos:exactMatch ncbigene:64744 semapv:UnspecifiedMatching -OMIM:616918 PIGG skos:exactMatch hgnc:PIGG semapv:UnspecifiedMatching +OMIM:616918 PIGG skos:exactMatch hgnc.symbol:25985 semapv:UnspecifiedMatching +OMIM:616918 PIGG skos:exactMatch hgnc.symbol:PIGG semapv:UnspecifiedMatching OMIM:616918 PIGG skos:exactMatch ncbigene:54872 semapv:UnspecifiedMatching -OMIM:616919 FRMPD1 skos:exactMatch hgnc:FRMPD1 semapv:UnspecifiedMatching +OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:29159 semapv:UnspecifiedMatching +OMIM:616919 FRMPD1 skos:exactMatch hgnc.symbol:FRMPD1 semapv:UnspecifiedMatching OMIM:616919 FRMPD1 skos:exactMatch ncbigene:22844 semapv:UnspecifiedMatching -OMIM:616923 RNF207 skos:exactMatch hgnc:RNF207 semapv:UnspecifiedMatching +OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:32947 semapv:UnspecifiedMatching +OMIM:616923 RNF207 skos:exactMatch hgnc.symbol:RNF207 semapv:UnspecifiedMatching OMIM:616923 RNF207 skos:exactMatch ncbigene:388591 semapv:UnspecifiedMatching -OMIM:616925 DHRS4AS1 skos:exactMatch hgnc:DHRS4-AS1 semapv:UnspecifiedMatching +OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:23175 semapv:UnspecifiedMatching +OMIM:616925 DHRS4AS1 skos:exactMatch hgnc.symbol:DHRS4-AS1 semapv:UnspecifiedMatching OMIM:616925 DHRS4AS1 skos:exactMatch ncbigene:55449 semapv:UnspecifiedMatching -OMIM:616926 FXYD4 skos:exactMatch hgnc:FXYD4 semapv:UnspecifiedMatching +OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:4028 semapv:UnspecifiedMatching +OMIM:616926 FXYD4 skos:exactMatch hgnc.symbol:FXYD4 semapv:UnspecifiedMatching OMIM:616926 FXYD4 skos:exactMatch ncbigene:53828 semapv:UnspecifiedMatching -OMIM:616927 EXOC3L2 skos:exactMatch hgnc:EXOC3L2 semapv:UnspecifiedMatching +OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:30162 semapv:UnspecifiedMatching +OMIM:616927 EXOC3L2 skos:exactMatch hgnc.symbol:EXOC3L2 semapv:UnspecifiedMatching OMIM:616927 EXOC3L2 skos:exactMatch ncbigene:90332 semapv:UnspecifiedMatching -OMIM:616928 TMEM45A skos:exactMatch hgnc:TMEM45A semapv:UnspecifiedMatching +OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:25480 semapv:UnspecifiedMatching +OMIM:616928 TMEM45A skos:exactMatch hgnc.symbol:TMEM45A semapv:UnspecifiedMatching OMIM:616928 TMEM45A skos:exactMatch ncbigene:55076 semapv:UnspecifiedMatching -OMIM:616929 MTERF2 skos:exactMatch hgnc:MTERF2 semapv:UnspecifiedMatching +OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:30779 semapv:UnspecifiedMatching +OMIM:616929 MTERF2 skos:exactMatch hgnc.symbol:MTERF2 semapv:UnspecifiedMatching OMIM:616929 MTERF2 skos:exactMatch ncbigene:80298 semapv:UnspecifiedMatching -OMIM:616930 MTERF3 skos:exactMatch hgnc:MTERF3 semapv:UnspecifiedMatching +OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:24258 semapv:UnspecifiedMatching +OMIM:616930 MTERF3 skos:exactMatch hgnc.symbol:MTERF3 semapv:UnspecifiedMatching OMIM:616930 MTERF3 skos:exactMatch ncbigene:51001 semapv:UnspecifiedMatching -OMIM:616931 FUT10 skos:exactMatch hgnc:FUT10 semapv:UnspecifiedMatching +OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:19234 semapv:UnspecifiedMatching +OMIM:616931 FUT10 skos:exactMatch hgnc.symbol:FUT10 semapv:UnspecifiedMatching OMIM:616931 FUT10 skos:exactMatch ncbigene:84750 semapv:UnspecifiedMatching -OMIM:616932 FUT11 skos:exactMatch hgnc:FUT11 semapv:UnspecifiedMatching +OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:19233 semapv:UnspecifiedMatching +OMIM:616932 FUT11 skos:exactMatch hgnc.symbol:FUT11 semapv:UnspecifiedMatching OMIM:616932 FUT11 skos:exactMatch ncbigene:170384 semapv:UnspecifiedMatching -OMIM:616933 FYTTD1 skos:exactMatch hgnc:FYTTD1 semapv:UnspecifiedMatching +OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:25407 semapv:UnspecifiedMatching +OMIM:616933 FYTTD1 skos:exactMatch hgnc.symbol:FYTTD1 semapv:UnspecifiedMatching OMIM:616933 FYTTD1 skos:exactMatch ncbigene:84248 semapv:UnspecifiedMatching -OMIM:616934 MEIOC skos:exactMatch hgnc:MEIOC semapv:UnspecifiedMatching +OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:26670 semapv:UnspecifiedMatching +OMIM:616934 MEIOC skos:exactMatch hgnc.symbol:MEIOC semapv:UnspecifiedMatching OMIM:616934 MEIOC skos:exactMatch ncbigene:284071 semapv:UnspecifiedMatching -OMIM:616935 FAF2 skos:exactMatch hgnc:FAF2 semapv:UnspecifiedMatching +OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:24666 semapv:UnspecifiedMatching +OMIM:616935 FAF2 skos:exactMatch hgnc.symbol:FAF2 semapv:UnspecifiedMatching OMIM:616935 FAF2 skos:exactMatch ncbigene:23197 semapv:UnspecifiedMatching -OMIM:616936 CHD9 skos:exactMatch hgnc:CHD9 semapv:UnspecifiedMatching +OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:25701 semapv:UnspecifiedMatching +OMIM:616936 CHD9 skos:exactMatch hgnc.symbol:CHD9 semapv:UnspecifiedMatching OMIM:616936 CHD9 skos:exactMatch ncbigene:80205 semapv:UnspecifiedMatching -OMIM:616940 EXD2 skos:exactMatch hgnc:EXD2 semapv:UnspecifiedMatching +OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:20217 semapv:UnspecifiedMatching +OMIM:616940 EXD2 skos:exactMatch hgnc.symbol:EXD2 semapv:UnspecifiedMatching OMIM:616940 EXD2 skos:exactMatch ncbigene:55218 semapv:UnspecifiedMatching -OMIM:616942 PDIA5 skos:exactMatch hgnc:PDIA5 semapv:UnspecifiedMatching +OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:24811 semapv:UnspecifiedMatching +OMIM:616942 PDIA5 skos:exactMatch hgnc.symbol:PDIA5 semapv:UnspecifiedMatching OMIM:616942 PDIA5 skos:exactMatch ncbigene:10954 semapv:UnspecifiedMatching OMIM:616944 intellectual developmental disorder, autosomal dominant 41 skos:exactMatch UMLS:C4310784 semapv:UnspecifiedMatching -OMIM:616945 CLVS2 skos:exactMatch hgnc:CLVS2 semapv:UnspecifiedMatching +OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:23046 semapv:UnspecifiedMatching +OMIM:616945 CLVS2 skos:exactMatch hgnc.symbol:CLVS2 semapv:UnspecifiedMatching OMIM:616945 CLVS2 skos:exactMatch ncbigene:134829 semapv:UnspecifiedMatching -OMIM:616951 MTSS2 skos:exactMatch hgnc:MTSS2 semapv:UnspecifiedMatching +OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:25094 semapv:UnspecifiedMatching +OMIM:616951 MTSS2 skos:exactMatch hgnc.symbol:MTSS2 semapv:UnspecifiedMatching OMIM:616951 MTSS2 skos:exactMatch ncbigene:92154 semapv:UnspecifiedMatching -OMIM:616952 MCUR1 skos:exactMatch hgnc:MCUR1 semapv:UnspecifiedMatching +OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:21097 semapv:UnspecifiedMatching +OMIM:616952 MCUR1 skos:exactMatch hgnc.symbol:MCUR1 semapv:UnspecifiedMatching OMIM:616952 MCUR1 skos:exactMatch ncbigene:63933 semapv:UnspecifiedMatching -OMIM:616953 CUTA skos:exactMatch hgnc:CUTA semapv:UnspecifiedMatching +OMIM:616953 CUTA skos:exactMatch hgnc.symbol:21101 semapv:UnspecifiedMatching +OMIM:616953 CUTA skos:exactMatch hgnc.symbol:CUTA semapv:UnspecifiedMatching OMIM:616953 CUTA skos:exactMatch ncbigene:51596 semapv:UnspecifiedMatching -OMIM:616955 REM2 skos:exactMatch hgnc:REM2 semapv:UnspecifiedMatching +OMIM:616955 REM2 skos:exactMatch hgnc.symbol:20248 semapv:UnspecifiedMatching +OMIM:616955 REM2 skos:exactMatch hgnc.symbol:REM2 semapv:UnspecifiedMatching OMIM:616955 REM2 skos:exactMatch ncbigene:161253 semapv:UnspecifiedMatching -OMIM:616956 TPPP2 skos:exactMatch hgnc:TPPP2 semapv:UnspecifiedMatching +OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:19293 semapv:UnspecifiedMatching +OMIM:616956 TPPP2 skos:exactMatch hgnc.symbol:TPPP2 semapv:UnspecifiedMatching OMIM:616956 TPPP2 skos:exactMatch ncbigene:122664 semapv:UnspecifiedMatching -OMIM:616957 TPPP3 skos:exactMatch hgnc:TPPP3 semapv:UnspecifiedMatching +OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:24162 semapv:UnspecifiedMatching +OMIM:616957 TPPP3 skos:exactMatch hgnc.symbol:TPPP3 semapv:UnspecifiedMatching OMIM:616957 TPPP3 skos:exactMatch ncbigene:51673 semapv:UnspecifiedMatching -OMIM:616960 GIMAP6 skos:exactMatch hgnc:GIMAP6 semapv:UnspecifiedMatching +OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:21918 semapv:UnspecifiedMatching +OMIM:616960 GIMAP6 skos:exactMatch hgnc.symbol:GIMAP6 semapv:UnspecifiedMatching OMIM:616960 GIMAP6 skos:exactMatch ncbigene:474344 semapv:UnspecifiedMatching -OMIM:616961 GIMAP7 skos:exactMatch hgnc:GIMAP7 semapv:UnspecifiedMatching +OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:22404 semapv:UnspecifiedMatching +OMIM:616961 GIMAP7 skos:exactMatch hgnc.symbol:GIMAP7 semapv:UnspecifiedMatching OMIM:616961 GIMAP7 skos:exactMatch ncbigene:168537 semapv:UnspecifiedMatching -OMIM:616962 GIMAP8 skos:exactMatch hgnc:GIMAP8 semapv:UnspecifiedMatching +OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:21792 semapv:UnspecifiedMatching +OMIM:616962 GIMAP8 skos:exactMatch hgnc.symbol:GIMAP8 semapv:UnspecifiedMatching OMIM:616962 GIMAP8 skos:exactMatch ncbigene:155038 semapv:UnspecifiedMatching +OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch Orphanet:300547 semapv:UnspecifiedMatching OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch UMLS:C4310473 semapv:UnspecifiedMatching -OMIM:616963 hypercalcemia, infantile, 2 skos:exactMatch orphanet.ordo:300547 semapv:UnspecifiedMatching -OMIM:616965 ADGRG5 skos:exactMatch hgnc:ADGRG5 semapv:UnspecifiedMatching +OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:19010 semapv:UnspecifiedMatching +OMIM:616965 ADGRG5 skos:exactMatch hgnc.symbol:ADGRG5 semapv:UnspecifiedMatching OMIM:616965 ADGRG5 skos:exactMatch ncbigene:221188 semapv:UnspecifiedMatching OMIM:616966 ABHD6 skos:exactMatch UMLS:C1427543 semapv:UnspecifiedMatching -OMIM:616966 ABHD6 skos:exactMatch hgnc:ABHD6 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:21398 semapv:UnspecifiedMatching +OMIM:616966 ABHD6 skos:exactMatch hgnc.symbol:ABHD6 semapv:UnspecifiedMatching OMIM:616966 ABHD6 skos:exactMatch ncbigene:57406 semapv:UnspecifiedMatching -OMIM:616967 TXNDC17 skos:exactMatch hgnc:TXNDC17 semapv:UnspecifiedMatching +OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:28218 semapv:UnspecifiedMatching +OMIM:616967 TXNDC17 skos:exactMatch hgnc.symbol:TXNDC17 semapv:UnspecifiedMatching OMIM:616967 TXNDC17 skos:exactMatch ncbigene:84817 semapv:UnspecifiedMatching -OMIM:616970 MARVELD1 skos:exactMatch hgnc:MARVELD1 semapv:UnspecifiedMatching +OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:28674 semapv:UnspecifiedMatching +OMIM:616970 MARVELD1 skos:exactMatch hgnc.symbol:MARVELD1 semapv:UnspecifiedMatching OMIM:616970 MARVELD1 skos:exactMatch ncbigene:83742 semapv:UnspecifiedMatching -OMIM:616971 ERGIC3 skos:exactMatch hgnc:ERGIC3 semapv:UnspecifiedMatching +OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:15927 semapv:UnspecifiedMatching +OMIM:616971 ERGIC3 skos:exactMatch hgnc.symbol:ERGIC3 semapv:UnspecifiedMatching OMIM:616971 ERGIC3 skos:exactMatch ncbigene:51614 semapv:UnspecifiedMatching -OMIM:616972 MIR490 skos:exactMatch hgnc:MIR490 semapv:UnspecifiedMatching +OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:32075 semapv:UnspecifiedMatching +OMIM:616972 MIR490 skos:exactMatch hgnc.symbol:MIR490 semapv:UnspecifiedMatching OMIM:616972 MIR490 skos:exactMatch ncbigene:574443 semapv:UnspecifiedMatching -OMIM:616976 TRIM40 skos:exactMatch hgnc:TRIM40 semapv:UnspecifiedMatching +OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:18736 semapv:UnspecifiedMatching +OMIM:616976 TRIM40 skos:exactMatch hgnc.symbol:TRIM40 semapv:UnspecifiedMatching OMIM:616976 TRIM40 skos:exactMatch ncbigene:135644 semapv:UnspecifiedMatching -OMIM:616978 CHCHD5 skos:exactMatch hgnc:CHCHD5 semapv:UnspecifiedMatching +OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:17840 semapv:UnspecifiedMatching +OMIM:616978 CHCHD5 skos:exactMatch hgnc.symbol:CHCHD5 semapv:UnspecifiedMatching OMIM:616978 CHCHD5 skos:exactMatch ncbigene:84269 semapv:UnspecifiedMatching -OMIM:616979 DTHD1 skos:exactMatch hgnc:DTHD1 semapv:UnspecifiedMatching +OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:37261 semapv:UnspecifiedMatching +OMIM:616979 DTHD1 skos:exactMatch hgnc.symbol:DTHD1 semapv:UnspecifiedMatching OMIM:616979 DTHD1 skos:exactMatch ncbigene:401124 semapv:UnspecifiedMatching -OMIM:616980 CYREN skos:exactMatch hgnc:CYREN semapv:UnspecifiedMatching +OMIM:616980 CYREN skos:exactMatch hgnc.symbol:22432 semapv:UnspecifiedMatching +OMIM:616980 CYREN skos:exactMatch hgnc.symbol:CYREN semapv:UnspecifiedMatching OMIM:616980 CYREN skos:exactMatch ncbigene:78996 semapv:UnspecifiedMatching OMIM:616981 developmental and epileptic encephalopathy 37 skos:exactMatch UMLS:C4310770 semapv:UnspecifiedMatching -OMIM:616982 PRDM6 skos:exactMatch hgnc:PRDM6 semapv:UnspecifiedMatching +OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:9350 semapv:UnspecifiedMatching +OMIM:616982 PRDM6 skos:exactMatch hgnc.symbol:PRDM6 semapv:UnspecifiedMatching OMIM:616982 PRDM6 skos:exactMatch ncbigene:93166 semapv:UnspecifiedMatching -OMIM:616983 ENPP6 skos:exactMatch hgnc:ENPP6 semapv:UnspecifiedMatching +OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:23409 semapv:UnspecifiedMatching +OMIM:616983 ENPP6 skos:exactMatch hgnc.symbol:ENPP6 semapv:UnspecifiedMatching OMIM:616983 ENPP6 skos:exactMatch ncbigene:133121 semapv:UnspecifiedMatching -OMIM:616984 NPVF skos:exactMatch hgnc:NPVF semapv:UnspecifiedMatching +OMIM:616984 NPVF skos:exactMatch hgnc.symbol:13782 semapv:UnspecifiedMatching +OMIM:616984 NPVF skos:exactMatch hgnc.symbol:NPVF semapv:UnspecifiedMatching OMIM:616984 NPVF skos:exactMatch ncbigene:64111 semapv:UnspecifiedMatching -OMIM:616985 MTRNR2L1 skos:exactMatch hgnc:MTRNR2L1 semapv:UnspecifiedMatching +OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:37155 semapv:UnspecifiedMatching +OMIM:616985 MTRNR2L1 skos:exactMatch hgnc.symbol:MTRNR2L1 semapv:UnspecifiedMatching OMIM:616985 MTRNR2L1 skos:exactMatch ncbigene:100462977 semapv:UnspecifiedMatching -OMIM:616987 C6ORF120 skos:exactMatch hgnc:C6orf120 semapv:UnspecifiedMatching +OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:21247 semapv:UnspecifiedMatching +OMIM:616987 C6ORF120 skos:exactMatch hgnc.symbol:C6orf120 semapv:UnspecifiedMatching OMIM:616987 C6ORF120 skos:exactMatch ncbigene:387263 semapv:UnspecifiedMatching -OMIM:616988 CLLU1 skos:exactMatch hgnc:CLLU1 semapv:UnspecifiedMatching +OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:29841 semapv:UnspecifiedMatching +OMIM:616988 CLLU1 skos:exactMatch hgnc.symbol:CLLU1 semapv:UnspecifiedMatching OMIM:616988 CLLU1 skos:exactMatch ncbigene:574028 semapv:UnspecifiedMatching -OMIM:616989 CLLU1OS skos:exactMatch hgnc:CLLU1-AS1 semapv:UnspecifiedMatching +OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:24070 semapv:UnspecifiedMatching +OMIM:616989 CLLU1OS skos:exactMatch hgnc.symbol:CLLU1-AS1 semapv:UnspecifiedMatching OMIM:616989 CLLU1OS skos:exactMatch ncbigene:574016 semapv:UnspecifiedMatching -OMIM:616990 CLUL1 skos:exactMatch hgnc:CLUL1 semapv:UnspecifiedMatching +OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:2096 semapv:UnspecifiedMatching +OMIM:616990 CLUL1 skos:exactMatch hgnc.symbol:CLUL1 semapv:UnspecifiedMatching OMIM:616990 CLUL1 skos:exactMatch ncbigene:27098 semapv:UnspecifiedMatching -OMIM:616991 MUC21 skos:exactMatch hgnc:MUC21 semapv:UnspecifiedMatching +OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:21661 semapv:UnspecifiedMatching +OMIM:616991 MUC21 skos:exactMatch hgnc.symbol:MUC21 semapv:UnspecifiedMatching OMIM:616991 MUC21 skos:exactMatch ncbigene:394263 semapv:UnspecifiedMatching -OMIM:616992 C8ORF17 skos:exactMatch hgnc:C8orf17 semapv:UnspecifiedMatching +OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:17737 semapv:UnspecifiedMatching +OMIM:616992 C8ORF17 skos:exactMatch hgnc.symbol:C8orf17 semapv:UnspecifiedMatching OMIM:616992 C8ORF17 skos:exactMatch ncbigene:100507249 semapv:UnspecifiedMatching -OMIM:616993 TMEM243 skos:exactMatch hgnc:TMEM243 semapv:UnspecifiedMatching +OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:21707 semapv:UnspecifiedMatching +OMIM:616993 TMEM243 skos:exactMatch hgnc.symbol:TMEM243 semapv:UnspecifiedMatching OMIM:616993 TMEM243 skos:exactMatch ncbigene:79161 semapv:UnspecifiedMatching -OMIM:616995 CIPC skos:exactMatch hgnc:CIPC semapv:UnspecifiedMatching +OMIM:616995 CIPC skos:exactMatch hgnc.symbol:20365 semapv:UnspecifiedMatching +OMIM:616995 CIPC skos:exactMatch hgnc.symbol:CIPC semapv:UnspecifiedMatching OMIM:616995 CIPC skos:exactMatch ncbigene:85457 semapv:UnspecifiedMatching -OMIM:616996 TRIM56 skos:exactMatch hgnc:TRIM56 semapv:UnspecifiedMatching +OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:19028 semapv:UnspecifiedMatching +OMIM:616996 TRIM56 skos:exactMatch hgnc.symbol:TRIM56 semapv:UnspecifiedMatching OMIM:616996 TRIM56 skos:exactMatch ncbigene:81844 semapv:UnspecifiedMatching -OMIM:616997 ENPP7 skos:exactMatch hgnc:ENPP7 semapv:UnspecifiedMatching +OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:23764 semapv:UnspecifiedMatching +OMIM:616997 ENPP7 skos:exactMatch hgnc.symbol:ENPP7 semapv:UnspecifiedMatching OMIM:616997 ENPP7 skos:exactMatch ncbigene:339221 semapv:UnspecifiedMatching -OMIM:616998 LLPH skos:exactMatch hgnc:LLPH semapv:UnspecifiedMatching +OMIM:616998 LLPH skos:exactMatch hgnc.symbol:28229 semapv:UnspecifiedMatching +OMIM:616998 LLPH skos:exactMatch hgnc.symbol:LLPH semapv:UnspecifiedMatching OMIM:616998 LLPH skos:exactMatch ncbigene:84298 semapv:UnspecifiedMatching -OMIM:616999 RBFOX3 skos:exactMatch hgnc:RBFOX3 semapv:UnspecifiedMatching +OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:27097 semapv:UnspecifiedMatching +OMIM:616999 RBFOX3 skos:exactMatch hgnc.symbol:RBFOX3 semapv:UnspecifiedMatching OMIM:616999 RBFOX3 skos:exactMatch ncbigene:146713 semapv:UnspecifiedMatching -OMIM:617000 ENPP4 skos:exactMatch hgnc:ENPP4 semapv:UnspecifiedMatching +OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:3359 semapv:UnspecifiedMatching +OMIM:617000 ENPP4 skos:exactMatch hgnc.symbol:ENPP4 semapv:UnspecifiedMatching OMIM:617000 ENPP4 skos:exactMatch ncbigene:22875 semapv:UnspecifiedMatching -OMIM:617001 ENPP5 skos:exactMatch hgnc:ENPP5 semapv:UnspecifiedMatching +OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:13717 semapv:UnspecifiedMatching +OMIM:617001 ENPP5 skos:exactMatch hgnc.symbol:ENPP5 semapv:UnspecifiedMatching OMIM:617001 ENPP5 skos:exactMatch ncbigene:59084 semapv:UnspecifiedMatching -OMIM:617002 BICDL1 skos:exactMatch hgnc:BICDL1 semapv:UnspecifiedMatching +OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:28095 semapv:UnspecifiedMatching +OMIM:617002 BICDL1 skos:exactMatch hgnc.symbol:BICDL1 semapv:UnspecifiedMatching OMIM:617002 BICDL1 skos:exactMatch ncbigene:92558 semapv:UnspecifiedMatching -OMIM:617003 BICDL2 skos:exactMatch hgnc:BICDL2 semapv:UnspecifiedMatching +OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:33584 semapv:UnspecifiedMatching +OMIM:617003 BICDL2 skos:exactMatch hgnc.symbol:BICDL2 semapv:UnspecifiedMatching OMIM:617003 BICDL2 skos:exactMatch ncbigene:146439 semapv:UnspecifiedMatching -OMIM:617005 CLDN17 skos:exactMatch hgnc:CLDN17 semapv:UnspecifiedMatching +OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:2038 semapv:UnspecifiedMatching +OMIM:617005 CLDN17 skos:exactMatch hgnc.symbol:CLDN17 semapv:UnspecifiedMatching OMIM:617005 CLDN17 skos:exactMatch ncbigene:26285 semapv:UnspecifiedMatching -OMIM:617007 TRIM35 skos:exactMatch hgnc:TRIM35 semapv:UnspecifiedMatching +OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:16285 semapv:UnspecifiedMatching +OMIM:617007 TRIM35 skos:exactMatch hgnc.symbol:TRIM35 semapv:UnspecifiedMatching OMIM:617007 TRIM35 skos:exactMatch ncbigene:23087 semapv:UnspecifiedMatching -OMIM:617009 ANKRD53 skos:exactMatch hgnc:ANKRD53 semapv:UnspecifiedMatching +OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:25691 semapv:UnspecifiedMatching +OMIM:617009 ANKRD53 skos:exactMatch hgnc.symbol:ANKRD53 semapv:UnspecifiedMatching OMIM:617009 ANKRD53 skos:exactMatch ncbigene:79998 semapv:UnspecifiedMatching -OMIM:617010 ULK4 skos:exactMatch hgnc:ULK4 semapv:UnspecifiedMatching +OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:15784 semapv:UnspecifiedMatching +OMIM:617010 ULK4 skos:exactMatch hgnc.symbol:ULK4 semapv:UnspecifiedMatching OMIM:617010 ULK4 skos:exactMatch ncbigene:54986 semapv:UnspecifiedMatching -OMIM:617012 PVRIG skos:exactMatch hgnc:PVRIG semapv:UnspecifiedMatching +OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:32190 semapv:UnspecifiedMatching +OMIM:617012 PVRIG skos:exactMatch hgnc.symbol:PVRIG semapv:UnspecifiedMatching OMIM:617012 PVRIG skos:exactMatch ncbigene:79037 semapv:UnspecifiedMatching +OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch Orphanet:521406 semapv:UnspecifiedMatching OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch UMLS:C4310765 semapv:UnspecifiedMatching -OMIM:617013 hypermanganesemia with dystonia 2 skos:exactMatch orphanet.ordo:521406 semapv:UnspecifiedMatching -OMIM:617015 PLCXD2 skos:exactMatch hgnc:PLCXD2 semapv:UnspecifiedMatching +OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:26462 semapv:UnspecifiedMatching +OMIM:617015 PLCXD2 skos:exactMatch hgnc.symbol:PLCXD2 semapv:UnspecifiedMatching OMIM:617015 PLCXD2 skos:exactMatch ncbigene:257068 semapv:UnspecifiedMatching -OMIM:617016 PLCXD3 skos:exactMatch hgnc:PLCXD3 semapv:UnspecifiedMatching +OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:31822 semapv:UnspecifiedMatching +OMIM:617016 PLCXD3 skos:exactMatch hgnc.symbol:PLCXD3 semapv:UnspecifiedMatching OMIM:617016 PLCXD3 skos:exactMatch ncbigene:345557 semapv:UnspecifiedMatching -OMIM:617019 TMEM230 skos:exactMatch hgnc:TMEM230 semapv:UnspecifiedMatching +OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:15876 semapv:UnspecifiedMatching +OMIM:617019 TMEM230 skos:exactMatch hgnc.symbol:TMEM230 semapv:UnspecifiedMatching OMIM:617019 TMEM230 skos:exactMatch ncbigene:29058 semapv:UnspecifiedMatching +OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch UMLS:C4310762 semapv:UnspecifiedMatching -OMIM:617020 developmental and epileptic encephalopathy 38 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch Orphanet:464366 semapv:UnspecifiedMatching OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch UMLS:C4310760 semapv:UnspecifiedMatching -OMIM:617022 lethal congenital contracture syndrome 10 skos:exactMatch orphanet.ordo:464366 semapv:UnspecifiedMatching +OMIM:617025 nevus comedonicus skos:exactMatch Orphanet:64754 semapv:UnspecifiedMatching OMIM:617025 nevus comedonicus skos:exactMatch UMLS:C0265987 semapv:UnspecifiedMatching -OMIM:617025 nevus comedonicus skos:exactMatch orphanet.ordo:64754 semapv:UnspecifiedMatching -OMIM:617029 SEMA4B skos:exactMatch hgnc:SEMA4B semapv:UnspecifiedMatching +OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:10730 semapv:UnspecifiedMatching +OMIM:617029 SEMA4B skos:exactMatch hgnc.symbol:SEMA4B semapv:UnspecifiedMatching OMIM:617029 SEMA4B skos:exactMatch ncbigene:10509 semapv:UnspecifiedMatching +OMIM:617030 myopathy, distal, 5 skos:exactMatch Orphanet:482601 semapv:UnspecifiedMatching OMIM:617030 myopathy, distal, 5 skos:exactMatch UMLS:C4310754 semapv:UnspecifiedMatching -OMIM:617030 myopathy, distal, 5 skos:exactMatch orphanet.ordo:482601 semapv:UnspecifiedMatching -OMIM:617031 PRPF38A skos:exactMatch hgnc:PRPF38A semapv:UnspecifiedMatching +OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:25930 semapv:UnspecifiedMatching +OMIM:617031 PRPF38A skos:exactMatch hgnc.symbol:PRPF38A semapv:UnspecifiedMatching OMIM:617031 PRPF38A skos:exactMatch ncbigene:84950 semapv:UnspecifiedMatching -OMIM:617032 PGGHG skos:exactMatch hgnc:PGGHG semapv:UnspecifiedMatching +OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:26210 semapv:UnspecifiedMatching +OMIM:617032 PGGHG skos:exactMatch hgnc.symbol:PGGHG semapv:UnspecifiedMatching OMIM:617032 PGGHG skos:exactMatch ncbigene:80162 semapv:UnspecifiedMatching -OMIM:617033 CASTOR2 skos:exactMatch hgnc:CASTOR2 semapv:UnspecifiedMatching +OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:37073 semapv:UnspecifiedMatching +OMIM:617033 CASTOR2 skos:exactMatch hgnc.symbol:CASTOR2 semapv:UnspecifiedMatching OMIM:617033 CASTOR2 skos:exactMatch ncbigene:729438 semapv:UnspecifiedMatching -OMIM:617034 CASTOR1 skos:exactMatch hgnc:CASTOR1 semapv:UnspecifiedMatching +OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:34423 semapv:UnspecifiedMatching +OMIM:617034 CASTOR1 skos:exactMatch hgnc.symbol:CASTOR1 semapv:UnspecifiedMatching OMIM:617034 CASTOR1 skos:exactMatch ncbigene:652968 semapv:UnspecifiedMatching -OMIM:617036 ACER3 skos:exactMatch hgnc:ACER3 semapv:UnspecifiedMatching +OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:16066 semapv:UnspecifiedMatching +OMIM:617036 ACER3 skos:exactMatch hgnc.symbol:ACER3 semapv:UnspecifiedMatching OMIM:617036 ACER3 skos:exactMatch ncbigene:55331 semapv:UnspecifiedMatching -OMIM:617037 NORAD skos:exactMatch hgnc:NORAD semapv:UnspecifiedMatching +OMIM:617037 NORAD skos:exactMatch hgnc.symbol:44311 semapv:UnspecifiedMatching +OMIM:617037 NORAD skos:exactMatch hgnc.symbol:NORAD semapv:UnspecifiedMatching OMIM:617037 NORAD skos:exactMatch ncbigene:647979 semapv:UnspecifiedMatching -OMIM:617038 LINC01370 skos:exactMatch hgnc:LINC01370 semapv:UnspecifiedMatching +OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:50608 semapv:UnspecifiedMatching +OMIM:617038 LINC01370 skos:exactMatch hgnc.symbol:LINC01370 semapv:UnspecifiedMatching OMIM:617038 LINC01370 skos:exactMatch ncbigene:100505663 semapv:UnspecifiedMatching -OMIM:617040 MIR1231 skos:exactMatch hgnc:MIR1231 semapv:UnspecifiedMatching +OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:33921 semapv:UnspecifiedMatching +OMIM:617040 MIR1231 skos:exactMatch hgnc.symbol:MIR1231 semapv:UnspecifiedMatching OMIM:617040 MIR1231 skos:exactMatch ncbigene:100302158 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:233 semapv:UnspecifiedMatching +OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch Orphanet:529574 semapv:UnspecifiedMatching OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch UMLS:C4310752 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch orphanet.ordo:233 semapv:UnspecifiedMatching -OMIM:617041 duane retraction syndrome 3 with or without deafness skos:exactMatch orphanet.ordo:529574 semapv:UnspecifiedMatching OMIM:617042 GSDMD skos:exactMatch UMLS:C1539620 semapv:UnspecifiedMatching -OMIM:617042 GSDMD skos:exactMatch hgnc:GSDMD semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:25697 semapv:UnspecifiedMatching +OMIM:617042 GSDMD skos:exactMatch hgnc.symbol:GSDMD semapv:UnspecifiedMatching OMIM:617042 GSDMD skos:exactMatch ncbigene:79792 semapv:UnspecifiedMatching -OMIM:617043 ARHGEF17 skos:exactMatch hgnc:ARHGEF17 semapv:UnspecifiedMatching +OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:21726 semapv:UnspecifiedMatching +OMIM:617043 ARHGEF17 skos:exactMatch hgnc.symbol:ARHGEF17 semapv:UnspecifiedMatching OMIM:617043 ARHGEF17 skos:exactMatch ncbigene:9828 semapv:UnspecifiedMatching -OMIM:617045 ZNF703 skos:exactMatch hgnc:ZNF703 semapv:UnspecifiedMatching +OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:25883 semapv:UnspecifiedMatching +OMIM:617045 ZNF703 skos:exactMatch hgnc.symbol:ZNF703 semapv:UnspecifiedMatching OMIM:617045 ZNF703 skos:exactMatch ncbigene:80139 semapv:UnspecifiedMatching -OMIM:617048 DNAJC21 skos:exactMatch hgnc:DNAJC21 semapv:UnspecifiedMatching +OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:27030 semapv:UnspecifiedMatching +OMIM:617048 DNAJC21 skos:exactMatch hgnc.symbol:DNAJC21 semapv:UnspecifiedMatching OMIM:617048 DNAJC21 skos:exactMatch ncbigene:134218 semapv:UnspecifiedMatching +OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch Orphanet:488627 semapv:UnspecifiedMatching OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch UMLS:C4310745 semapv:UnspecifiedMatching -OMIM:617051 neurodevelopmental disorder with microcephaly and gray sclerae skos:exactMatch orphanet.ordo:488627 semapv:UnspecifiedMatching +OMIM:617053 mirage syndrome skos:exactMatch Orphanet:494433 semapv:UnspecifiedMatching OMIM:617053 mirage syndrome skos:exactMatch UMLS:C4284088 semapv:UnspecifiedMatching -OMIM:617053 mirage syndrome skos:exactMatch orphanet.ordo:494433 semapv:UnspecifiedMatching +OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 semapv:UnspecifiedMatching OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch UMLS:C4310743 semapv:UnspecifiedMatching -OMIM:617054 striatonigral degeneration, childhood-onset skos:exactMatch orphanet.ordo:497906 semapv:UnspecifiedMatching +OMIM:617055 perching syndrome skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:617055 perching syndrome skos:exactMatch UMLS:C4310742 semapv:UnspecifiedMatching -OMIM:617055 perching syndrome skos:exactMatch orphanet.ordo:157820 semapv:UnspecifiedMatching -OMIM:617057 CTU2 skos:exactMatch hgnc:CTU2 semapv:UnspecifiedMatching +OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:28005 semapv:UnspecifiedMatching +OMIM:617057 CTU2 skos:exactMatch hgnc.symbol:CTU2 semapv:UnspecifiedMatching OMIM:617057 CTU2 skos:exactMatch ncbigene:348180 semapv:UnspecifiedMatching -OMIM:617058 TSR3 skos:exactMatch hgnc:TSR3 semapv:UnspecifiedMatching +OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:14175 semapv:UnspecifiedMatching +OMIM:617058 TSR3 skos:exactMatch hgnc.symbol:TSR3 semapv:UnspecifiedMatching OMIM:617058 TSR3 skos:exactMatch ncbigene:115939 semapv:UnspecifiedMatching -OMIM:617059 ZDBF2 skos:exactMatch hgnc:ZDBF2 semapv:UnspecifiedMatching +OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:29313 semapv:UnspecifiedMatching +OMIM:617059 ZDBF2 skos:exactMatch hgnc.symbol:ZDBF2 semapv:UnspecifiedMatching OMIM:617059 ZDBF2 skos:exactMatch ncbigene:57683 semapv:UnspecifiedMatching -OMIM:617060 LCTL skos:exactMatch hgnc:LCTL semapv:UnspecifiedMatching +OMIM:617060 LCTL skos:exactMatch hgnc.symbol:15583 semapv:UnspecifiedMatching +OMIM:617060 LCTL skos:exactMatch hgnc.symbol:LCTL semapv:UnspecifiedMatching OMIM:617060 LCTL skos:exactMatch ncbigene:197021 semapv:UnspecifiedMatching +OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch Orphanet:476126 semapv:UnspecifiedMatching OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch UMLS:C4310740 semapv:UnspecifiedMatching -OMIM:617061 intellectual developmental disorder, autosomal dominant 44, with microcephaly skos:exactMatch orphanet.ordo:476126 semapv:UnspecifiedMatching OMIM:617064 GUF1 skos:exactMatch UMLS:C1825432 semapv:UnspecifiedMatching OMIM:617064 GUF1 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching -OMIM:617064 GUF1 skos:exactMatch hgnc:GUF1 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:25799 semapv:UnspecifiedMatching +OMIM:617064 GUF1 skos:exactMatch hgnc.symbol:GUF1 semapv:UnspecifiedMatching OMIM:617064 GUF1 skos:exactMatch ncbigene:60558 semapv:UnspecifiedMatching +OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch UMLS:C4310737 semapv:UnspecifiedMatching -OMIM:617065 developmental and epileptic encephalopathy 40 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:617067 LYPD8 skos:exactMatch hgnc:LYPD8 semapv:UnspecifiedMatching +OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:44208 semapv:UnspecifiedMatching +OMIM:617067 LYPD8 skos:exactMatch hgnc.symbol:LYPD8 semapv:UnspecifiedMatching OMIM:617067 LYPD8 skos:exactMatch ncbigene:646627 semapv:UnspecifiedMatching OMIM:617074 SMCR8 skos:exactMatch UMLS:C1425178 semapv:UnspecifiedMatching -OMIM:617074 SMCR8 skos:exactMatch hgnc:SMCR8 semapv:UnspecifiedMatching +OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:17921 semapv:UnspecifiedMatching +OMIM:617074 SMCR8 skos:exactMatch hgnc.symbol:SMCR8 semapv:UnspecifiedMatching OMIM:617074 SMCR8 skos:exactMatch ncbigene:140775 semapv:UnspecifiedMatching -OMIM:617076 FKBPL skos:exactMatch hgnc:FKBPL semapv:UnspecifiedMatching +OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:13949 semapv:UnspecifiedMatching +OMIM:617076 FKBPL skos:exactMatch hgnc.symbol:FKBPL semapv:UnspecifiedMatching OMIM:617076 FKBPL skos:exactMatch ncbigene:63943 semapv:UnspecifiedMatching -OMIM:617077 ZNF618 skos:exactMatch hgnc:ZNF618 semapv:UnspecifiedMatching +OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:29416 semapv:UnspecifiedMatching +OMIM:617077 ZNF618 skos:exactMatch hgnc.symbol:ZNF618 semapv:UnspecifiedMatching OMIM:617077 ZNF618 skos:exactMatch ncbigene:114991 semapv:UnspecifiedMatching -OMIM:617078 DEDD2 skos:exactMatch hgnc:DEDD2 semapv:UnspecifiedMatching +OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:24450 semapv:UnspecifiedMatching +OMIM:617078 DEDD2 skos:exactMatch hgnc.symbol:DEDD2 semapv:UnspecifiedMatching OMIM:617078 DEDD2 skos:exactMatch ncbigene:162989 semapv:UnspecifiedMatching -OMIM:617079 LINC00673 skos:exactMatch hgnc:LINC00673 semapv:UnspecifiedMatching +OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:44354 semapv:UnspecifiedMatching +OMIM:617079 LINC00673 skos:exactMatch hgnc.symbol:LINC00673 semapv:UnspecifiedMatching OMIM:617079 LINC00673 skos:exactMatch ncbigene:100499467 semapv:UnspecifiedMatching +OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch Orphanet:306 semapv:UnspecifiedMatching OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch UMLS:C4310728 semapv:UnspecifiedMatching -OMIM:617080 seizures, benign familial infantile, 5 skos:exactMatch orphanet.ordo:306 semapv:UnspecifiedMatching OMIM:617081 OMA1 skos:exactMatch UMLS:C1538537 semapv:UnspecifiedMatching -OMIM:617081 OMA1 skos:exactMatch hgnc:OMA1 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:29661 semapv:UnspecifiedMatching +OMIM:617081 OMA1 skos:exactMatch hgnc.symbol:OMA1 semapv:UnspecifiedMatching OMIM:617081 OMA1 skos:exactMatch ncbigene:115209 semapv:UnspecifiedMatching -OMIM:617083 DYNC2LI1 skos:exactMatch hgnc:DYNC2LI1 semapv:UnspecifiedMatching +OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:24595 semapv:UnspecifiedMatching +OMIM:617083 DYNC2LI1 skos:exactMatch hgnc.symbol:DYNC2LI1 semapv:UnspecifiedMatching OMIM:617083 DYNC2LI1 skos:exactMatch ncbigene:51626 semapv:UnspecifiedMatching -OMIM:617084 TMEM59 skos:exactMatch hgnc:TMEM59 semapv:UnspecifiedMatching +OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:1239 semapv:UnspecifiedMatching +OMIM:617084 TMEM59 skos:exactMatch hgnc.symbol:TMEM59 semapv:UnspecifiedMatching OMIM:617084 TMEM59 skos:exactMatch ncbigene:9528 semapv:UnspecifiedMatching -OMIM:617085 FIBIN skos:exactMatch hgnc:FIBIN semapv:UnspecifiedMatching +OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:33747 semapv:UnspecifiedMatching +OMIM:617085 FIBIN skos:exactMatch hgnc.symbol:FIBIN semapv:UnspecifiedMatching OMIM:617085 FIBIN skos:exactMatch ncbigene:387758 semapv:UnspecifiedMatching OMIM:617089 NEPRO skos:exactMatch UMLS:C1540228 semapv:UnspecifiedMatching OMIM:617089 NEPRO skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching -OMIM:617089 NEPRO skos:exactMatch hgnc:NEPRO semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:24496 semapv:UnspecifiedMatching +OMIM:617089 NEPRO skos:exactMatch hgnc.symbol:NEPRO semapv:UnspecifiedMatching OMIM:617089 NEPRO skos:exactMatch ncbigene:25871 semapv:UnspecifiedMatching +OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch Orphanet:2512 semapv:UnspecifiedMatching OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch UMLS:C4310723 semapv:UnspecifiedMatching -OMIM:617090 microcephaly 17, primary, autosomal recessive skos:exactMatch orphanet.ordo:2512 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C1825567 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C4310846 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch UMLS:C4310847 semapv:UnspecifiedMatching -OMIM:617094 IFT52 skos:exactMatch hgnc:IFT52 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:15901 semapv:UnspecifiedMatching +OMIM:617094 IFT52 skos:exactMatch hgnc.symbol:IFT52 semapv:UnspecifiedMatching OMIM:617094 IFT52 skos:exactMatch ncbigene:51098 semapv:UnspecifiedMatching -OMIM:617095 TTC25 skos:exactMatch hgnc:ODAD4 semapv:UnspecifiedMatching -OMIM:617095 TTC25 skos:exactMatch ncbigene:83538 semapv:UnspecifiedMatching -OMIM:617096 TMEM59L skos:exactMatch hgnc:TMEM59L semapv:UnspecifiedMatching +OMIM:617095 ODAD4 skos:exactMatch hgnc.symbol:25280 semapv:UnspecifiedMatching +OMIM:617095 ODAD4 skos:exactMatch hgnc.symbol:ODAD4 semapv:UnspecifiedMatching +OMIM:617095 ODAD4 skos:exactMatch ncbigene:83538 semapv:UnspecifiedMatching +OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:13237 semapv:UnspecifiedMatching +OMIM:617096 TMEM59L skos:exactMatch hgnc.symbol:TMEM59L semapv:UnspecifiedMatching OMIM:617096 TMEM59L skos:exactMatch ncbigene:25789 semapv:UnspecifiedMatching -OMIM:617097 LINC01194 skos:exactMatch hgnc:LINC01194 semapv:UnspecifiedMatching +OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:37171 semapv:UnspecifiedMatching +OMIM:617097 LINC01194 skos:exactMatch hgnc.symbol:LINC01194 semapv:UnspecifiedMatching OMIM:617097 LINC01194 skos:exactMatch ncbigene:404663 semapv:UnspecifiedMatching -OMIM:617098 RNASEK skos:exactMatch hgnc:RNASEK semapv:UnspecifiedMatching +OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:33911 semapv:UnspecifiedMatching +OMIM:617098 RNASEK skos:exactMatch hgnc.symbol:RNASEK semapv:UnspecifiedMatching OMIM:617098 RNASEK skos:exactMatch ncbigene:440400 semapv:UnspecifiedMatching +OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch Orphanet:1515 semapv:UnspecifiedMatching OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch UMLS:C4310718 semapv:UnspecifiedMatching -OMIM:617102 short-rib thoracic dysplasia 16 with or without polydactyly skos:exactMatch orphanet.ordo:1515 semapv:UnspecifiedMatching -OMIM:617103 ZNF668 skos:exactMatch hgnc:ZNF668 semapv:UnspecifiedMatching +OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:25821 semapv:UnspecifiedMatching +OMIM:617103 ZNF668 skos:exactMatch hgnc.symbol:ZNF668 semapv:UnspecifiedMatching OMIM:617103 ZNF668 skos:exactMatch ncbigene:79759 semapv:UnspecifiedMatching -OMIM:617104 PIP4K2C skos:exactMatch hgnc:PIP4K2C semapv:UnspecifiedMatching +OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:23786 semapv:UnspecifiedMatching +OMIM:617104 PIP4K2C skos:exactMatch hgnc.symbol:PIP4K2C semapv:UnspecifiedMatching OMIM:617104 PIP4K2C skos:exactMatch ncbigene:79837 semapv:UnspecifiedMatching +OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:1935 semapv:UnspecifiedMatching +OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch UMLS:C4310717 semapv:UnspecifiedMatching -OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch orphanet.ordo:1935 semapv:UnspecifiedMatching -OMIM:617105 developmental and epileptic encephalopathy 41 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch UMLS:C4310716 semapv:UnspecifiedMatching -OMIM:617106 developmental and epileptic encephalopathy 42 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617109 CREBRF skos:exactMatch hgnc:CREBRF semapv:UnspecifiedMatching +OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:24050 semapv:UnspecifiedMatching +OMIM:617109 CREBRF skos:exactMatch hgnc.symbol:CREBRF semapv:UnspecifiedMatching OMIM:617109 CREBRF skos:exactMatch ncbigene:153222 semapv:UnspecifiedMatching -OMIM:617110 CEP78 skos:exactMatch hgnc:CEP78 semapv:UnspecifiedMatching +OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:25740 semapv:UnspecifiedMatching +OMIM:617110 CEP78 skos:exactMatch hgnc.symbol:CEP78 semapv:UnspecifiedMatching OMIM:617110 CEP78 skos:exactMatch ncbigene:84131 semapv:UnspecifiedMatching -OMIM:617112 KIAA0753 skos:exactMatch hgnc:KIAA0753 semapv:UnspecifiedMatching +OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:29110 semapv:UnspecifiedMatching +OMIM:617112 KIAA0753 skos:exactMatch hgnc.symbol:KIAA0753 semapv:UnspecifiedMatching OMIM:617112 KIAA0753 skos:exactMatch ncbigene:9851 semapv:UnspecifiedMatching +OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch UMLS:C4310712 semapv:UnspecifiedMatching -OMIM:617113 developmental and epileptic encephalopathy 43 skos:exactMatch orphanet.ordo:2382 semapv:UnspecifiedMatching -OMIM:617117 LINC00663 skos:exactMatch hgnc:LINC00663 semapv:UnspecifiedMatching +OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:28609 semapv:UnspecifiedMatching +OMIM:617117 LINC00663 skos:exactMatch hgnc.symbol:LINC00663 semapv:UnspecifiedMatching OMIM:617117 LINC00663 skos:exactMatch ncbigene:284440 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:220493 semapv:UnspecifiedMatching +OMIM:617121 joubert syndrome 28 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching OMIM:617121 joubert syndrome 28 skos:exactMatch UMLS:C4310705 semapv:UnspecifiedMatching -OMIM:617121 joubert syndrome 28 skos:exactMatch orphanet.ordo:220493 semapv:UnspecifiedMatching -OMIM:617121 joubert syndrome 28 skos:exactMatch orphanet.ordo:475 semapv:UnspecifiedMatching -OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc:PCOTH semapv:UnspecifiedMatching +OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:39839 semapv:UnspecifiedMatching +OMIM:617122 C1QTNF9BAS1 skos:exactMatch hgnc.symbol:PCOTH semapv:UnspecifiedMatching OMIM:617122 C1QTNF9BAS1 skos:exactMatch ncbigene:542767 semapv:UnspecifiedMatching -OMIM:617124 PM20D1 skos:exactMatch hgnc:PM20D1 semapv:UnspecifiedMatching +OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:26518 semapv:UnspecifiedMatching +OMIM:617124 PM20D1 skos:exactMatch hgnc.symbol:PM20D1 semapv:UnspecifiedMatching OMIM:617124 PM20D1 skos:exactMatch ncbigene:148811 semapv:UnspecifiedMatching -OMIM:617128 INSYN1 skos:exactMatch hgnc:INSYN1 semapv:UnspecifiedMatching +OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:33753 semapv:UnspecifiedMatching +OMIM:617128 INSYN1 skos:exactMatch hgnc.symbol:INSYN1 semapv:UnspecifiedMatching OMIM:617128 INSYN1 skos:exactMatch ncbigene:388135 semapv:UnspecifiedMatching -OMIM:617129 INSYN2A skos:exactMatch hgnc:INSYN2A semapv:UnspecifiedMatching +OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:33859 semapv:UnspecifiedMatching +OMIM:617129 INSYN2A skos:exactMatch hgnc.symbol:INSYN2A semapv:UnspecifiedMatching OMIM:617129 INSYN2A skos:exactMatch ncbigene:642938 semapv:UnspecifiedMatching -OMIM:617130 MAJIN skos:exactMatch hgnc:MAJIN semapv:UnspecifiedMatching +OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:27441 semapv:UnspecifiedMatching +OMIM:617130 MAJIN skos:exactMatch hgnc.symbol:MAJIN semapv:UnspecifiedMatching OMIM:617130 MAJIN skos:exactMatch ncbigene:283129 semapv:UnspecifiedMatching -OMIM:617131 TERB2 skos:exactMatch hgnc:TERB2 semapv:UnspecifiedMatching +OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:28520 semapv:UnspecifiedMatching +OMIM:617131 TERB2 skos:exactMatch hgnc.symbol:TERB2 semapv:UnspecifiedMatching OMIM:617131 TERB2 skos:exactMatch ncbigene:145645 semapv:UnspecifiedMatching +OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch UMLS:C4310700 semapv:UnspecifiedMatching -OMIM:617132 developmental and epileptic encephalopathy 44 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617134 TMCO3 skos:exactMatch hgnc:TMCO3 semapv:UnspecifiedMatching +OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:20329 semapv:UnspecifiedMatching +OMIM:617134 TMCO3 skos:exactMatch hgnc.symbol:TMCO3 semapv:UnspecifiedMatching OMIM:617134 TMCO3 skos:exactMatch ncbigene:55002 semapv:UnspecifiedMatching OMIM:617135 L3MBTL4 skos:exactMatch UMLS:C1537515 semapv:UnspecifiedMatching -OMIM:617135 L3MBTL4 skos:exactMatch hgnc:L3MBTL4 semapv:UnspecifiedMatching +OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:26677 semapv:UnspecifiedMatching +OMIM:617135 L3MBTL4 skos:exactMatch hgnc.symbol:L3MBTL4 semapv:UnspecifiedMatching OMIM:617135 L3MBTL4 skos:exactMatch ncbigene:91133 semapv:UnspecifiedMatching -OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc:TFAP2A-AS2 semapv:UnspecifiedMatching +OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:52289 semapv:UnspecifiedMatching +OMIM:617136 TFAP2AAS2 skos:exactMatch hgnc.symbol:TFAP2A-AS2 semapv:UnspecifiedMatching OMIM:617136 TFAP2AAS2 skos:exactMatch ncbigene:109729173 semapv:UnspecifiedMatching +OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch Orphanet:1826 semapv:UnspecifiedMatching OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch UMLS:C4310697 semapv:UnspecifiedMatching -OMIM:617137 frontometaphyseal dysplasia 2 skos:exactMatch orphanet.ordo:1826 semapv:UnspecifiedMatching -OMIM:617138 SKOR2 skos:exactMatch hgnc:SKOR2 semapv:UnspecifiedMatching +OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:32695 semapv:UnspecifiedMatching +OMIM:617138 SKOR2 skos:exactMatch hgnc.symbol:SKOR2 semapv:UnspecifiedMatching OMIM:617138 SKOR2 skos:exactMatch ncbigene:652991 semapv:UnspecifiedMatching -OMIM:617139 LGALS7B skos:exactMatch hgnc:LGALS7B semapv:UnspecifiedMatching +OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:34447 semapv:UnspecifiedMatching +OMIM:617139 LGALS7B skos:exactMatch hgnc.symbol:LGALS7B semapv:UnspecifiedMatching OMIM:617139 LGALS7B skos:exactMatch ncbigene:653499 semapv:UnspecifiedMatching -OMIM:617144 MIR4435-2HG skos:exactMatch hgnc:MIR4435-2HG semapv:UnspecifiedMatching +OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:35163 semapv:UnspecifiedMatching +OMIM:617144 MIR4435-2HG skos:exactMatch hgnc.symbol:MIR4435-2HG semapv:UnspecifiedMatching OMIM:617144 MIR4435-2HG skos:exactMatch ncbigene:541471 semapv:UnspecifiedMatching OMIM:617146 arthrogryposis, distal, with impaired proprioception and touch skos:exactMatch UMLS:C4310692 semapv:UnspecifiedMatching -OMIM:617147 CCDC14 skos:exactMatch hgnc:CCDC14 semapv:UnspecifiedMatching +OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:25766 semapv:UnspecifiedMatching +OMIM:617147 CCDC14 skos:exactMatch hgnc.symbol:CCDC14 semapv:UnspecifiedMatching OMIM:617147 CCDC14 skos:exactMatch ncbigene:64770 semapv:UnspecifiedMatching -OMIM:617148 DEUP1 skos:exactMatch hgnc:DEUP1 semapv:UnspecifiedMatching +OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:26344 semapv:UnspecifiedMatching +OMIM:617148 DEUP1 skos:exactMatch hgnc.symbol:DEUP1 semapv:UnspecifiedMatching OMIM:617148 DEUP1 skos:exactMatch ncbigene:159989 semapv:UnspecifiedMatching -OMIM:617149 CEP20 skos:exactMatch hgnc:CEP20 semapv:UnspecifiedMatching +OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:26435 semapv:UnspecifiedMatching +OMIM:617149 CEP20 skos:exactMatch hgnc.symbol:CEP20 semapv:UnspecifiedMatching OMIM:617149 CEP20 skos:exactMatch ncbigene:123811 semapv:UnspecifiedMatching -OMIM:617150 ZDHHC3 skos:exactMatch hgnc:ZDHHC3 semapv:UnspecifiedMatching +OMIM:617150 ZDHHC3 skos:exactMatch hgnc.symbol:18470 semapv:UnspecifiedMatching +OMIM:617150 ZDHHC3 skos:exactMatch hgnc.symbol:ZDHHC3 semapv:UnspecifiedMatching OMIM:617150 ZDHHC3 skos:exactMatch ncbigene:51304 semapv:UnspecifiedMatching -OMIM:617151 SULT1C3 skos:exactMatch hgnc:SULT1C3 semapv:UnspecifiedMatching +OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:33543 semapv:UnspecifiedMatching +OMIM:617151 SULT1C3 skos:exactMatch hgnc.symbol:SULT1C3 semapv:UnspecifiedMatching OMIM:617151 SULT1C3 skos:exactMatch ncbigene:442038 semapv:UnspecifiedMatching -OMIM:617152 SULT6B1 skos:exactMatch hgnc:SULT6B1 semapv:UnspecifiedMatching +OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:33433 semapv:UnspecifiedMatching +OMIM:617152 SULT6B1 skos:exactMatch hgnc.symbol:SULT6B1 semapv:UnspecifiedMatching OMIM:617152 SULT6B1 skos:exactMatch ncbigene:391365 semapv:UnspecifiedMatching +OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch UMLS:C4310691 semapv:UnspecifiedMatching -OMIM:617153 developmental and epileptic encephalopathy 45 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617154 MRNIP skos:exactMatch hgnc:MRNIP semapv:UnspecifiedMatching +OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:30817 semapv:UnspecifiedMatching +OMIM:617154 MRNIP skos:exactMatch hgnc.symbol:MRNIP semapv:UnspecifiedMatching OMIM:617154 MRNIP skos:exactMatch ncbigene:51149 semapv:UnspecifiedMatching -OMIM:617155 ST18 skos:exactMatch hgnc:ST18 semapv:UnspecifiedMatching +OMIM:617155 ST18 skos:exactMatch hgnc.symbol:18695 semapv:UnspecifiedMatching +OMIM:617155 ST18 skos:exactMatch hgnc.symbol:ST18 semapv:UnspecifiedMatching OMIM:617155 ST18 skos:exactMatch ncbigene:9705 semapv:UnspecifiedMatching +OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch Orphanet:464288 semapv:UnspecifiedMatching OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch UMLS:C4310689 semapv:UnspecifiedMatching -OMIM:617157 short stature, brachydactyly, impaired intellectual development, and seizures skos:exactMatch orphanet.ordo:464288 semapv:UnspecifiedMatching +OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch Orphanet:602 semapv:UnspecifiedMatching OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch UMLS:C5399975 semapv:UnspecifiedMatching -OMIM:617158 myopathy, distal, with rimmed vacuoles skos:exactMatch orphanet.ordo:602 semapv:UnspecifiedMatching -OMIM:617160 PROM2 skos:exactMatch hgnc:PROM2 semapv:UnspecifiedMatching +OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:20685 semapv:UnspecifiedMatching +OMIM:617160 PROM2 skos:exactMatch hgnc.symbol:PROM2 semapv:UnspecifiedMatching OMIM:617160 PROM2 skos:exactMatch ncbigene:150696 semapv:UnspecifiedMatching -OMIM:617161 GSG1L skos:exactMatch hgnc:GSG1L semapv:UnspecifiedMatching +OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:28283 semapv:UnspecifiedMatching +OMIM:617161 GSG1L skos:exactMatch hgnc.symbol:GSG1L semapv:UnspecifiedMatching OMIM:617161 GSG1L skos:exactMatch ncbigene:146395 semapv:UnspecifiedMatching +OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch UMLS:C4310687 semapv:UnspecifiedMatching -OMIM:617162 developmental and epileptic encephalopathy 46 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617163 RNF186 skos:exactMatch hgnc:RNF186 semapv:UnspecifiedMatching +OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:25978 semapv:UnspecifiedMatching +OMIM:617163 RNF186 skos:exactMatch hgnc.symbol:RNF186 semapv:UnspecifiedMatching OMIM:617163 RNF186 skos:exactMatch ncbigene:54546 semapv:UnspecifiedMatching -OMIM:617165 FAM213A skos:exactMatch hgnc:PRXL2A semapv:UnspecifiedMatching +OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:28651 semapv:UnspecifiedMatching +OMIM:617165 FAM213A skos:exactMatch hgnc.symbol:PRXL2A semapv:UnspecifiedMatching OMIM:617165 FAM213A skos:exactMatch ncbigene:84293 semapv:UnspecifiedMatching +OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch UMLS:C4310685 semapv:UnspecifiedMatching -OMIM:617166 developmental and epileptic encephalopathy 47 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617167 SLC35G1 skos:exactMatch hgnc:SLC35G1 semapv:UnspecifiedMatching +OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:26607 semapv:UnspecifiedMatching +OMIM:617167 SLC35G1 skos:exactMatch hgnc.symbol:SLC35G1 semapv:UnspecifiedMatching OMIM:617167 SLC35G1 skos:exactMatch ncbigene:159371 semapv:UnspecifiedMatching -OMIM:617170 CWC27 skos:exactMatch hgnc:CWC27 semapv:UnspecifiedMatching +OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:10664 semapv:UnspecifiedMatching +OMIM:617170 CWC27 skos:exactMatch hgnc.symbol:CWC27 semapv:UnspecifiedMatching OMIM:617170 CWC27 skos:exactMatch ncbigene:10283 semapv:UnspecifiedMatching +OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch Orphanet:468620 semapv:UnspecifiedMatching OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch UMLS:C4310683 semapv:UnspecifiedMatching -OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures skos:exactMatch orphanet.ordo:468620 semapv:UnspecifiedMatching -OMIM:617172 GPX8 skos:exactMatch hgnc:GPX8 semapv:UnspecifiedMatching +OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:33100 semapv:UnspecifiedMatching +OMIM:617172 GPX8 skos:exactMatch hgnc.symbol:GPX8 semapv:UnspecifiedMatching OMIM:617172 GPX8 skos:exactMatch ncbigene:493869 semapv:UnspecifiedMatching -OMIM:617176 MIR4271 skos:exactMatch hgnc:MIR4271 semapv:UnspecifiedMatching +OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:38332 semapv:UnspecifiedMatching +OMIM:617176 MIR4271 skos:exactMatch hgnc.symbol:MIR4271 semapv:UnspecifiedMatching OMIM:617176 MIR4271 skos:exactMatch ncbigene:100422952 semapv:UnspecifiedMatching -OMIM:617177 MYL10 skos:exactMatch hgnc:MYL10 semapv:UnspecifiedMatching +OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:29825 semapv:UnspecifiedMatching +OMIM:617177 MYL10 skos:exactMatch hgnc.symbol:MYL10 semapv:UnspecifiedMatching OMIM:617177 MYL10 skos:exactMatch ncbigene:93408 semapv:UnspecifiedMatching -OMIM:617178 RNF166 skos:exactMatch hgnc:RNF166 semapv:UnspecifiedMatching +OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:28856 semapv:UnspecifiedMatching +OMIM:617178 RNF166 skos:exactMatch hgnc.symbol:RNF166 semapv:UnspecifiedMatching OMIM:617178 RNF166 skos:exactMatch ncbigene:115992 semapv:UnspecifiedMatching -OMIM:617179 PANDAR skos:exactMatch hgnc:PANDAR semapv:UnspecifiedMatching +OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:44048 semapv:UnspecifiedMatching +OMIM:617179 PANDAR skos:exactMatch hgnc.symbol:PANDAR semapv:UnspecifiedMatching OMIM:617179 PANDAR skos:exactMatch ncbigene:101154753 semapv:UnspecifiedMatching -OMIM:617181 TMC4 skos:exactMatch hgnc:TMC4 semapv:UnspecifiedMatching +OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:22998 semapv:UnspecifiedMatching +OMIM:617181 TMC4 skos:exactMatch hgnc.symbol:TMC4 semapv:UnspecifiedMatching OMIM:617181 TMC4 skos:exactMatch ncbigene:147798 semapv:UnspecifiedMatching +OMIM:617183 harel-yoon syndrome skos:exactMatch Orphanet:496790 semapv:UnspecifiedMatching OMIM:617183 harel-yoon syndrome skos:exactMatch UMLS:C4310677 semapv:UnspecifiedMatching -OMIM:617183 harel-yoon syndrome skos:exactMatch orphanet.ordo:496790 semapv:UnspecifiedMatching OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant skos:exactMatch UMLS:C4310676 semapv:UnspecifiedMatching -OMIM:617185 NSUN7 skos:exactMatch hgnc:NSUN7 semapv:UnspecifiedMatching +OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:25857 semapv:UnspecifiedMatching +OMIM:617185 NSUN7 skos:exactMatch hgnc.symbol:NSUN7 semapv:UnspecifiedMatching OMIM:617185 NSUN7 skos:exactMatch ncbigene:79730 semapv:UnspecifiedMatching -OMIM:617189 TMEM110 skos:exactMatch hgnc:STIMATE semapv:UnspecifiedMatching +OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:30526 semapv:UnspecifiedMatching +OMIM:617189 TMEM110 skos:exactMatch hgnc.symbol:STIMATE semapv:UnspecifiedMatching OMIM:617189 TMEM110 skos:exactMatch ncbigene:375346 semapv:UnspecifiedMatching -OMIM:617191 PICSAR skos:exactMatch hgnc:PICSAR semapv:UnspecifiedMatching +OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:19725 semapv:UnspecifiedMatching +OMIM:617191 PICSAR skos:exactMatch hgnc.symbol:PICSAR semapv:UnspecifiedMatching OMIM:617191 PICSAR skos:exactMatch ncbigene:378825 semapv:UnspecifiedMatching -OMIM:617192 EEPD1 skos:exactMatch hgnc:EEPD1 semapv:UnspecifiedMatching +OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:22223 semapv:UnspecifiedMatching +OMIM:617192 EEPD1 skos:exactMatch hgnc.symbol:EEPD1 semapv:UnspecifiedMatching OMIM:617192 EEPD1 skos:exactMatch ncbigene:80820 semapv:UnspecifiedMatching +OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch Orphanet:496641 semapv:UnspecifiedMatching OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch UMLS:C4310671 semapv:UnspecifiedMatching -OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum skos:exactMatch orphanet.ordo:496641 semapv:UnspecifiedMatching -OMIM:617195 MUSTN1 skos:exactMatch hgnc:MUSTN1 semapv:UnspecifiedMatching +OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:22144 semapv:UnspecifiedMatching +OMIM:617195 MUSTN1 skos:exactMatch hgnc.symbol:MUSTN1 semapv:UnspecifiedMatching OMIM:617195 MUSTN1 skos:exactMatch ncbigene:389125 semapv:UnspecifiedMatching -OMIM:617196 TMC3 skos:exactMatch hgnc:TMC3 semapv:UnspecifiedMatching +OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:22995 semapv:UnspecifiedMatching +OMIM:617196 TMC3 skos:exactMatch hgnc.symbol:TMC3 semapv:UnspecifiedMatching OMIM:617196 TMC3 skos:exactMatch ncbigene:342125 semapv:UnspecifiedMatching -OMIM:617197 TMC5 skos:exactMatch hgnc:TMC5 semapv:UnspecifiedMatching +OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:22999 semapv:UnspecifiedMatching +OMIM:617197 TMC5 skos:exactMatch hgnc.symbol:TMC5 semapv:UnspecifiedMatching OMIM:617197 TMC5 skos:exactMatch ncbigene:79838 semapv:UnspecifiedMatching -OMIM:617198 TMC7 skos:exactMatch hgnc:TMC7 semapv:UnspecifiedMatching +OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:23000 semapv:UnspecifiedMatching +OMIM:617198 TMC7 skos:exactMatch hgnc.symbol:TMC7 semapv:UnspecifiedMatching OMIM:617198 TMC7 skos:exactMatch ncbigene:79905 semapv:UnspecifiedMatching -OMIM:617199 NSUN6 skos:exactMatch hgnc:NSUN6 semapv:UnspecifiedMatching +OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:23529 semapv:UnspecifiedMatching +OMIM:617199 NSUN6 skos:exactMatch hgnc.symbol:NSUN6 semapv:UnspecifiedMatching OMIM:617199 NSUN6 skos:exactMatch ncbigene:221078 semapv:UnspecifiedMatching -OMIM:617200 OPALIN skos:exactMatch hgnc:OPALIN semapv:UnspecifiedMatching +OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:20707 semapv:UnspecifiedMatching +OMIM:617200 OPALIN skos:exactMatch hgnc.symbol:OPALIN semapv:UnspecifiedMatching OMIM:617200 OPALIN skos:exactMatch ncbigene:93377 semapv:UnspecifiedMatching -OMIM:617202 FOXI2 skos:exactMatch hgnc:FOXI2 semapv:UnspecifiedMatching +OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:32448 semapv:UnspecifiedMatching +OMIM:617202 FOXI2 skos:exactMatch hgnc.symbol:FOXI2 semapv:UnspecifiedMatching OMIM:617202 FOXI2 skos:exactMatch ncbigene:399823 semapv:UnspecifiedMatching -OMIM:617203 TMEM87B skos:exactMatch hgnc:TMEM87B semapv:UnspecifiedMatching +OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:25913 semapv:UnspecifiedMatching +OMIM:617203 TMEM87B skos:exactMatch hgnc.symbol:TMEM87B semapv:UnspecifiedMatching OMIM:617203 TMEM87B skos:exactMatch ncbigene:84910 semapv:UnspecifiedMatching -OMIM:617204 VMAC skos:exactMatch hgnc:VMAC semapv:UnspecifiedMatching +OMIM:617204 VMAC skos:exactMatch hgnc.symbol:33803 semapv:UnspecifiedMatching +OMIM:617204 VMAC skos:exactMatch hgnc.symbol:VMAC semapv:UnspecifiedMatching OMIM:617204 VMAC skos:exactMatch ncbigene:400673 semapv:UnspecifiedMatching -OMIM:617206 NEURL3 skos:exactMatch hgnc:NEURL3 semapv:UnspecifiedMatching +OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:25162 semapv:UnspecifiedMatching +OMIM:617206 NEURL3 skos:exactMatch hgnc.symbol:NEURL3 semapv:UnspecifiedMatching OMIM:617206 NEURL3 skos:exactMatch ncbigene:93082 semapv:UnspecifiedMatching -OMIM:617208 MAMDC4 skos:exactMatch hgnc:MAMDC4 semapv:UnspecifiedMatching +OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:24083 semapv:UnspecifiedMatching +OMIM:617208 MAMDC4 skos:exactMatch hgnc.symbol:MAMDC4 semapv:UnspecifiedMatching OMIM:617208 MAMDC4 skos:exactMatch ncbigene:158056 semapv:UnspecifiedMatching OMIM:617209 QRSL1 skos:exactMatch UMLS:C1427248 semapv:UnspecifiedMatching OMIM:617209 QRSL1 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching -OMIM:617209 QRSL1 skos:exactMatch hgnc:QRSL1 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:21020 semapv:UnspecifiedMatching +OMIM:617209 QRSL1 skos:exactMatch hgnc.symbol:QRSL1 semapv:UnspecifiedMatching OMIM:617209 QRSL1 skos:exactMatch ncbigene:55278 semapv:UnspecifiedMatching OMIM:617210 GATC skos:exactMatch UMLS:C2239482 semapv:UnspecifiedMatching OMIM:617210 GATC skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching -OMIM:617210 GATC skos:exactMatch hgnc:GATC semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch hgnc.symbol:25068 semapv:UnspecifiedMatching +OMIM:617210 GATC skos:exactMatch hgnc.symbol:GATC semapv:UnspecifiedMatching OMIM:617210 GATC skos:exactMatch ncbigene:283459 semapv:UnspecifiedMatching -OMIM:617211 DMKN skos:exactMatch hgnc:DMKN semapv:UnspecifiedMatching +OMIM:617211 DMKN skos:exactMatch hgnc.symbol:25063 semapv:UnspecifiedMatching +OMIM:617211 DMKN skos:exactMatch hgnc.symbol:DMKN semapv:UnspecifiedMatching OMIM:617211 DMKN skos:exactMatch ncbigene:93099 semapv:UnspecifiedMatching -OMIM:617212 KRTDAP skos:exactMatch hgnc:KRTDAP semapv:UnspecifiedMatching +OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:16313 semapv:UnspecifiedMatching +OMIM:617212 KRTDAP skos:exactMatch hgnc.symbol:KRTDAP semapv:UnspecifiedMatching OMIM:617212 KRTDAP skos:exactMatch ncbigene:388533 semapv:UnspecifiedMatching OMIM:617214 spermatogenic failure 17 skos:exactMatch UMLS:C4310666 semapv:UnspecifiedMatching -OMIM:617215 C17ORF49 skos:exactMatch hgnc:C17orf49 semapv:UnspecifiedMatching +OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:28737 semapv:UnspecifiedMatching +OMIM:617215 C17ORF49 skos:exactMatch hgnc.symbol:C17orf49 semapv:UnspecifiedMatching OMIM:617215 C17ORF49 skos:exactMatch ncbigene:124944 semapv:UnspecifiedMatching -OMIM:617216 ZNF420 skos:exactMatch hgnc:ZNF420 semapv:UnspecifiedMatching +OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:20649 semapv:UnspecifiedMatching +OMIM:617216 ZNF420 skos:exactMatch hgnc.symbol:ZNF420 semapv:UnspecifiedMatching OMIM:617216 ZNF420 skos:exactMatch ncbigene:147923 semapv:UnspecifiedMatching -OMIM:617218 TMTC3 skos:exactMatch hgnc:TMTC3 semapv:UnspecifiedMatching +OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:26899 semapv:UnspecifiedMatching +OMIM:617218 TMTC3 skos:exactMatch hgnc.symbol:TMTC3 semapv:UnspecifiedMatching OMIM:617218 TMTC3 skos:exactMatch ncbigene:160418 semapv:UnspecifiedMatching -OMIM:617220 PYROXD1 skos:exactMatch hgnc:PYROXD1 semapv:UnspecifiedMatching +OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:26162 semapv:UnspecifiedMatching +OMIM:617220 PYROXD1 skos:exactMatch hgnc.symbol:PYROXD1 semapv:UnspecifiedMatching OMIM:617220 PYROXD1 skos:exactMatch ncbigene:79912 semapv:UnspecifiedMatching -OMIM:617221 HKDC1 skos:exactMatch hgnc:HKDC1 semapv:UnspecifiedMatching +OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:23302 semapv:UnspecifiedMatching +OMIM:617221 HKDC1 skos:exactMatch hgnc.symbol:HKDC1 semapv:UnspecifiedMatching OMIM:617221 HKDC1 skos:exactMatch ncbigene:80201 semapv:UnspecifiedMatching -OMIM:617224 GAS2L3 skos:exactMatch hgnc:GAS2L3 semapv:UnspecifiedMatching +OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:27475 semapv:UnspecifiedMatching +OMIM:617224 GAS2L3 skos:exactMatch hgnc.symbol:GAS2L3 semapv:UnspecifiedMatching OMIM:617224 GAS2L3 skos:exactMatch ncbigene:283431 semapv:UnspecifiedMatching +OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch Orphanet:513436 semapv:UnspecifiedMatching OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch UMLS:C4310662 semapv:UnspecifiedMatching -OMIM:617225 spastic paraplegia 78, autosomal recessive skos:exactMatch orphanet.ordo:513436 semapv:UnspecifiedMatching -OMIM:617226 MAPK1IP1L skos:exactMatch hgnc:MAPK1IP1L semapv:UnspecifiedMatching +OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:19840 semapv:UnspecifiedMatching +OMIM:617226 MAPK1IP1L skos:exactMatch hgnc.symbol:MAPK1IP1L semapv:UnspecifiedMatching OMIM:617226 MAPK1IP1L skos:exactMatch ncbigene:93487 semapv:UnspecifiedMatching -OMIM:617227 ATAD3C skos:exactMatch hgnc:ATAD3C semapv:UnspecifiedMatching +OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:32151 semapv:UnspecifiedMatching +OMIM:617227 ATAD3C skos:exactMatch hgnc.symbol:ATAD3C semapv:UnspecifiedMatching OMIM:617227 ATAD3C skos:exactMatch ncbigene:219293 semapv:UnspecifiedMatching -OMIM:617229 FAM53A skos:exactMatch hgnc:FAM53A semapv:UnspecifiedMatching +OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:31860 semapv:UnspecifiedMatching +OMIM:617229 FAM53A skos:exactMatch hgnc.symbol:FAM53A semapv:UnspecifiedMatching OMIM:617229 FAM53A skos:exactMatch ncbigene:152877 semapv:UnspecifiedMatching -OMIM:617230 ZFP1 skos:exactMatch hgnc:ZFP1 semapv:UnspecifiedMatching +OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:23328 semapv:UnspecifiedMatching +OMIM:617230 ZFP1 skos:exactMatch hgnc.symbol:ZFP1 semapv:UnspecifiedMatching OMIM:617230 ZFP1 skos:exactMatch ncbigene:162239 semapv:UnspecifiedMatching -OMIM:617231 LHPP skos:exactMatch hgnc:LHPP semapv:UnspecifiedMatching +OMIM:617231 LHPP skos:exactMatch hgnc.symbol:30042 semapv:UnspecifiedMatching +OMIM:617231 LHPP skos:exactMatch hgnc.symbol:LHPP semapv:UnspecifiedMatching OMIM:617231 LHPP skos:exactMatch ncbigene:64077 semapv:UnspecifiedMatching -OMIM:617233 WDR70 skos:exactMatch hgnc:WDR70 semapv:UnspecifiedMatching +OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:25495 semapv:UnspecifiedMatching +OMIM:617233 WDR70 skos:exactMatch hgnc.symbol:WDR70 semapv:UnspecifiedMatching OMIM:617233 WDR70 skos:exactMatch ncbigene:55100 semapv:UnspecifiedMatching -OMIM:617240 HAND2AS1 skos:exactMatch hgnc:HAND2-AS1 semapv:UnspecifiedMatching +OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:48872 semapv:UnspecifiedMatching +OMIM:617240 HAND2AS1 skos:exactMatch hgnc.symbol:HAND2-AS1 semapv:UnspecifiedMatching OMIM:617240 HAND2AS1 skos:exactMatch ncbigene:79804 semapv:UnspecifiedMatching OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome skos:exactMatch UMLS:C4310653 semapv:UnspecifiedMatching OMIM:617242 TECRL skos:exactMatch UMLS:C2828772 semapv:UnspecifiedMatching OMIM:617242 TECRL skos:exactMatch UMLS:C3151463 semapv:UnspecifiedMatching -OMIM:617242 TECRL skos:exactMatch hgnc:TECRL semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch hgnc.symbol:27365 semapv:UnspecifiedMatching +OMIM:617242 TECRL skos:exactMatch hgnc.symbol:TECRL semapv:UnspecifiedMatching OMIM:617242 TECRL skos:exactMatch ncbigene:253017 semapv:UnspecifiedMatching +OMIM:617244 fanconi anemia, complementation group r skos:exactMatch Orphanet:84 semapv:UnspecifiedMatching OMIM:617244 fanconi anemia, complementation group r skos:exactMatch UMLS:C4284093 semapv:UnspecifiedMatching -OMIM:617244 fanconi anemia, complementation group r skos:exactMatch orphanet.ordo:84 semapv:UnspecifiedMatching -OMIM:617245 HECW2 skos:exactMatch hgnc:HECW2 semapv:UnspecifiedMatching +OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:29853 semapv:UnspecifiedMatching +OMIM:617245 HECW2 skos:exactMatch hgnc.symbol:HECW2 semapv:UnspecifiedMatching OMIM:617245 HECW2 skos:exactMatch ncbigene:57520 semapv:UnspecifiedMatching OMIM:617246 NSMCE2 skos:exactMatch UMLS:C1826473 semapv:UnspecifiedMatching OMIM:617246 NSMCE2 skos:exactMatch UMLS:C4310647 semapv:UnspecifiedMatching -OMIM:617246 NSMCE2 skos:exactMatch hgnc:NSMCE2 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:26513 semapv:UnspecifiedMatching +OMIM:617246 NSMCE2 skos:exactMatch hgnc.symbol:NSMCE2 semapv:UnspecifiedMatching OMIM:617246 NSMCE2 skos:exactMatch ncbigene:286053 semapv:UnspecifiedMatching -OMIM:617249 FAM122A skos:exactMatch hgnc:PABIR1 semapv:UnspecifiedMatching +OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:23490 semapv:UnspecifiedMatching +OMIM:617249 FAM122A skos:exactMatch hgnc.symbol:PABIR1 semapv:UnspecifiedMatching OMIM:617249 FAM122A skos:exactMatch ncbigene:116224 semapv:UnspecifiedMatching -OMIM:617250 ERC2 skos:exactMatch hgnc:ERC2 semapv:UnspecifiedMatching +OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:31922 semapv:UnspecifiedMatching +OMIM:617250 ERC2 skos:exactMatch hgnc.symbol:ERC2 semapv:UnspecifiedMatching OMIM:617250 ERC2 skos:exactMatch ncbigene:26059 semapv:UnspecifiedMatching -OMIM:617254 LMNTD1 skos:exactMatch hgnc:LMNTD1 semapv:UnspecifiedMatching +OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:26683 semapv:UnspecifiedMatching +OMIM:617254 LMNTD1 skos:exactMatch hgnc.symbol:LMNTD1 semapv:UnspecifiedMatching OMIM:617254 LMNTD1 skos:exactMatch ncbigene:160492 semapv:UnspecifiedMatching -OMIM:617256 SLC7A13 skos:exactMatch hgnc:SLC7A13 semapv:UnspecifiedMatching +OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:23092 semapv:UnspecifiedMatching +OMIM:617256 SLC7A13 skos:exactMatch hgnc.symbol:SLC7A13 semapv:UnspecifiedMatching OMIM:617256 SLC7A13 skos:exactMatch ncbigene:157724 semapv:UnspecifiedMatching -OMIM:617257 SPATA46 skos:exactMatch hgnc:SPATA46 semapv:UnspecifiedMatching +OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:27648 semapv:UnspecifiedMatching +OMIM:617257 SPATA46 skos:exactMatch hgnc.symbol:SPATA46 semapv:UnspecifiedMatching OMIM:617257 SPATA46 skos:exactMatch ncbigene:284680 semapv:UnspecifiedMatching -OMIM:617259 DCAF1 skos:exactMatch hgnc:DCAF1 semapv:UnspecifiedMatching +OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:30911 semapv:UnspecifiedMatching +OMIM:617259 DCAF1 skos:exactMatch hgnc.symbol:DCAF1 semapv:UnspecifiedMatching OMIM:617259 DCAF1 skos:exactMatch ncbigene:9730 semapv:UnspecifiedMatching -OMIM:617261 TMEM261 skos:exactMatch hgnc:DMAC1 semapv:UnspecifiedMatching +OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:30536 semapv:UnspecifiedMatching +OMIM:617261 TMEM261 skos:exactMatch hgnc.symbol:DMAC1 semapv:UnspecifiedMatching OMIM:617261 TMEM261 skos:exactMatch ncbigene:90871 semapv:UnspecifiedMatching -OMIM:617262 ATP5SL skos:exactMatch hgnc:DMAC2 semapv:UnspecifiedMatching +OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:25496 semapv:UnspecifiedMatching +OMIM:617262 ATP5SL skos:exactMatch hgnc.symbol:DMAC2 semapv:UnspecifiedMatching OMIM:617262 ATP5SL skos:exactMatch ncbigene:55101 semapv:UnspecifiedMatching OMIM:617263 NSMCE1 skos:exactMatch UMLS:C1538488 semapv:UnspecifiedMatching -OMIM:617263 NSMCE1 skos:exactMatch hgnc:NSMCE1 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:29897 semapv:UnspecifiedMatching +OMIM:617263 NSMCE1 skos:exactMatch hgnc.symbol:NSMCE1 semapv:UnspecifiedMatching OMIM:617263 NSMCE1 skos:exactMatch ncbigene:197370 semapv:UnspecifiedMatching -OMIM:617264 SCAF1 skos:exactMatch hgnc:SCAF1 semapv:UnspecifiedMatching +OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:30403 semapv:UnspecifiedMatching +OMIM:617264 SCAF1 skos:exactMatch hgnc.symbol:SCAF1 semapv:UnspecifiedMatching OMIM:617264 SCAF1 skos:exactMatch ncbigene:58506 semapv:UnspecifiedMatching -OMIM:617265 KCTD9 skos:exactMatch hgnc:KCTD9 semapv:UnspecifiedMatching +OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:22401 semapv:UnspecifiedMatching +OMIM:617265 KCTD9 skos:exactMatch hgnc.symbol:KCTD9 semapv:UnspecifiedMatching OMIM:617265 KCTD9 skos:exactMatch ncbigene:54793 semapv:UnspecifiedMatching -OMIM:617266 KIAA0825 skos:exactMatch hgnc:KIAA0825 semapv:UnspecifiedMatching +OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:28532 semapv:UnspecifiedMatching +OMIM:617266 KIAA0825 skos:exactMatch hgnc.symbol:KIAA0825 semapv:UnspecifiedMatching OMIM:617266 KIAA0825 skos:exactMatch ncbigene:285600 semapv:UnspecifiedMatching -OMIM:617267 MAIP1 skos:exactMatch hgnc:MAIP1 semapv:UnspecifiedMatching +OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:26198 semapv:UnspecifiedMatching +OMIM:617267 MAIP1 skos:exactMatch hgnc.symbol:MAIP1 semapv:UnspecifiedMatching OMIM:617267 MAIP1 skos:exactMatch ncbigene:79568 semapv:UnspecifiedMatching -OMIM:617269 SOCS2AS1 skos:exactMatch hgnc:SOCS2-AS1 semapv:UnspecifiedMatching +OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:27054 semapv:UnspecifiedMatching +OMIM:617269 SOCS2AS1 skos:exactMatch hgnc.symbol:SOCS2-AS1 semapv:UnspecifiedMatching OMIM:617269 SOCS2AS1 skos:exactMatch ncbigene:144481 semapv:UnspecifiedMatching -OMIM:617273 CIBAR1 skos:exactMatch hgnc:CIBAR1 semapv:UnspecifiedMatching +OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:30452 semapv:UnspecifiedMatching +OMIM:617273 CIBAR1 skos:exactMatch hgnc.symbol:CIBAR1 semapv:UnspecifiedMatching OMIM:617273 CIBAR1 skos:exactMatch ncbigene:137392 semapv:UnspecifiedMatching -OMIM:617274 CIBAR2 skos:exactMatch hgnc:CIBAR2 semapv:UnspecifiedMatching +OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:24781 semapv:UnspecifiedMatching +OMIM:617274 CIBAR2 skos:exactMatch hgnc.symbol:CIBAR2 semapv:UnspecifiedMatching OMIM:617274 CIBAR2 skos:exactMatch ncbigene:339145 semapv:UnspecifiedMatching OMIM:617275 tooth agenesis, selective, 9 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching +OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch UMLS:C4310637 semapv:UnspecifiedMatching -OMIM:617276 developmental and epileptic encephalopathy 48 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:617277 DNHD1 skos:exactMatch hgnc:DNHD1 semapv:UnspecifiedMatching +OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:26532 semapv:UnspecifiedMatching +OMIM:617277 DNHD1 skos:exactMatch hgnc.symbol:DNHD1 semapv:UnspecifiedMatching OMIM:617277 DNHD1 skos:exactMatch ncbigene:144132 semapv:UnspecifiedMatching OMIM:617278 DENND5A skos:exactMatch UMLS:C1426178 semapv:UnspecifiedMatching OMIM:617278 DENND5A skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching -OMIM:617278 DENND5A skos:exactMatch hgnc:DENND5A semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:19344 semapv:UnspecifiedMatching +OMIM:617278 DENND5A skos:exactMatch hgnc.symbol:DENND5A semapv:UnspecifiedMatching OMIM:617278 DENND5A skos:exactMatch ncbigene:23258 semapv:UnspecifiedMatching -OMIM:617279 DENND5B skos:exactMatch hgnc:DENND5B semapv:UnspecifiedMatching +OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:28338 semapv:UnspecifiedMatching +OMIM:617279 DENND5B skos:exactMatch hgnc.symbol:DENND5B semapv:UnspecifiedMatching OMIM:617279 DENND5B skos:exactMatch ncbigene:160518 semapv:UnspecifiedMatching OMIM:617281 developmental and epileptic encephalopathy 49 skos:exactMatch UMLS:C4310635 semapv:UnspecifiedMatching OMIM:617283 YTHDC1 skos:exactMatch UMLS:C1823897 semapv:UnspecifiedMatching -OMIM:617283 YTHDC1 skos:exactMatch hgnc:YTHDC1 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:30626 semapv:UnspecifiedMatching +OMIM:617283 YTHDC1 skos:exactMatch hgnc.symbol:YTHDC1 semapv:UnspecifiedMatching OMIM:617283 YTHDC1 skos:exactMatch ncbigene:91746 semapv:UnspecifiedMatching -OMIM:617285 HMGB4 skos:exactMatch hgnc:HMGB4 semapv:UnspecifiedMatching +OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:24954 semapv:UnspecifiedMatching +OMIM:617285 HMGB4 skos:exactMatch hgnc.symbol:HMGB4 semapv:UnspecifiedMatching OMIM:617285 HMGB4 skos:exactMatch ncbigene:127540 semapv:UnspecifiedMatching -OMIM:617286 PANCR skos:exactMatch hgnc:PANCR semapv:UnspecifiedMatching +OMIM:617286 PANCR skos:exactMatch hgnc.symbol:52282 semapv:UnspecifiedMatching +OMIM:617286 PANCR skos:exactMatch hgnc.symbol:PANCR semapv:UnspecifiedMatching OMIM:617286 PANCR skos:exactMatch ncbigene:110231149 semapv:UnspecifiedMatching -OMIM:617287 PLPPR5 skos:exactMatch hgnc:PLPPR5 semapv:UnspecifiedMatching +OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:31703 semapv:UnspecifiedMatching +OMIM:617287 PLPPR5 skos:exactMatch hgnc.symbol:PLPPR5 semapv:UnspecifiedMatching OMIM:617287 PLPPR5 skos:exactMatch ncbigene:163404 semapv:UnspecifiedMatching -OMIM:617288 SPINK7 skos:exactMatch hgnc:SPINK7 semapv:UnspecifiedMatching +OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:24643 semapv:UnspecifiedMatching +OMIM:617288 SPINK7 skos:exactMatch hgnc.symbol:SPINK7 semapv:UnspecifiedMatching OMIM:617288 SPINK7 skos:exactMatch ncbigene:84651 semapv:UnspecifiedMatching -OMIM:617289 FAM53B skos:exactMatch hgnc:FAM53B semapv:UnspecifiedMatching +OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:28968 semapv:UnspecifiedMatching +OMIM:617289 FAM53B skos:exactMatch hgnc.symbol:FAM53B semapv:UnspecifiedMatching OMIM:617289 FAM53B skos:exactMatch ncbigene:9679 semapv:UnspecifiedMatching -OMIM:617291 TMEM150B skos:exactMatch hgnc:TMEM150B semapv:UnspecifiedMatching +OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:34415 semapv:UnspecifiedMatching +OMIM:617291 TMEM150B skos:exactMatch hgnc.symbol:TMEM150B semapv:UnspecifiedMatching OMIM:617291 TMEM150B skos:exactMatch ncbigene:284417 semapv:UnspecifiedMatching -OMIM:617292 TMEM150C skos:exactMatch hgnc:TMEM150C semapv:UnspecifiedMatching +OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:37263 semapv:UnspecifiedMatching +OMIM:617292 TMEM150C skos:exactMatch hgnc.symbol:TMEM150C semapv:UnspecifiedMatching OMIM:617292 TMEM150C skos:exactMatch ncbigene:441027 semapv:UnspecifiedMatching -OMIM:617293 MXRA8 skos:exactMatch hgnc:MXRA8 semapv:UnspecifiedMatching +OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:7542 semapv:UnspecifiedMatching +OMIM:617293 MXRA8 skos:exactMatch hgnc.symbol:MXRA8 semapv:UnspecifiedMatching OMIM:617293 MXRA8 skos:exactMatch ncbigene:54587 semapv:UnspecifiedMatching -OMIM:617295 RUNDC3B skos:exactMatch hgnc:RUNDC3B semapv:UnspecifiedMatching +OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:30286 semapv:UnspecifiedMatching +OMIM:617295 RUNDC3B skos:exactMatch hgnc.symbol:RUNDC3B semapv:UnspecifiedMatching OMIM:617295 RUNDC3B skos:exactMatch ncbigene:154661 semapv:UnspecifiedMatching -OMIM:617298 AIFM3 skos:exactMatch hgnc:AIFM3 semapv:UnspecifiedMatching +OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:26398 semapv:UnspecifiedMatching +OMIM:617298 AIFM3 skos:exactMatch hgnc.symbol:AIFM3 semapv:UnspecifiedMatching OMIM:617298 AIFM3 skos:exactMatch ncbigene:150209 semapv:UnspecifiedMatching -OMIM:617299 RPAIN skos:exactMatch hgnc:RPAIN semapv:UnspecifiedMatching +OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:28641 semapv:UnspecifiedMatching +OMIM:617299 RPAIN skos:exactMatch hgnc.symbol:RPAIN semapv:UnspecifiedMatching OMIM:617299 RPAIN skos:exactMatch ncbigene:84268 semapv:UnspecifiedMatching OMIM:617300 lymphatic malformation 7 skos:exactMatch UMLS:C4310629 semapv:UnspecifiedMatching +OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch Orphanet:505248 semapv:UnspecifiedMatching OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch UMLS:C4310627 semapv:UnspecifiedMatching -OMIM:617303 mucopolysaccharidosis-plus syndrome skos:exactMatch orphanet.ordo:505248 semapv:UnspecifiedMatching -OMIM:617305 FAM26F skos:exactMatch hgnc:CALHM6 semapv:UnspecifiedMatching +OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:33391 semapv:UnspecifiedMatching +OMIM:617305 FAM26F skos:exactMatch hgnc.symbol:CALHM6 semapv:UnspecifiedMatching OMIM:617305 FAM26F skos:exactMatch ncbigene:441168 semapv:UnspecifiedMatching -OMIM:617307 C14ORF39 skos:exactMatch hgnc:C14orf39 semapv:UnspecifiedMatching +OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:19849 semapv:UnspecifiedMatching +OMIM:617307 C14ORF39 skos:exactMatch hgnc.symbol:C14orf39 semapv:UnspecifiedMatching OMIM:617307 C14ORF39 skos:exactMatch ncbigene:317761 semapv:UnspecifiedMatching -OMIM:617309 IGFN1 skos:exactMatch hgnc:IGFN1 semapv:UnspecifiedMatching +OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:24607 semapv:UnspecifiedMatching +OMIM:617309 IGFN1 skos:exactMatch hgnc.symbol:IGFN1 semapv:UnspecifiedMatching OMIM:617309 IGFN1 skos:exactMatch ncbigene:91156 semapv:UnspecifiedMatching -OMIM:617310 ANKS3 skos:exactMatch hgnc:ANKS3 semapv:UnspecifiedMatching +OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:29422 semapv:UnspecifiedMatching +OMIM:617310 ANKS3 skos:exactMatch hgnc.symbol:ANKS3 semapv:UnspecifiedMatching OMIM:617310 ANKS3 skos:exactMatch ncbigene:124401 semapv:UnspecifiedMatching -OMIM:617311 ZG16 skos:exactMatch hgnc:ZG16 semapv:UnspecifiedMatching +OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:30961 semapv:UnspecifiedMatching +OMIM:617311 ZG16 skos:exactMatch hgnc.symbol:ZG16 semapv:UnspecifiedMatching OMIM:617311 ZG16 skos:exactMatch ncbigene:653808 semapv:UnspecifiedMatching -OMIM:617312 FHIP2A skos:exactMatch hgnc:FHIP2A semapv:UnspecifiedMatching +OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:29320 semapv:UnspecifiedMatching +OMIM:617312 FHIP2A skos:exactMatch hgnc.symbol:FHIP2A semapv:UnspecifiedMatching OMIM:617312 FHIP2A skos:exactMatch ncbigene:57700 semapv:UnspecifiedMatching -OMIM:617313 SHF skos:exactMatch hgnc:SHF semapv:UnspecifiedMatching +OMIM:617313 SHF skos:exactMatch hgnc.symbol:25116 semapv:UnspecifiedMatching +OMIM:617313 SHF skos:exactMatch hgnc.symbol:SHF semapv:UnspecifiedMatching OMIM:617313 SHF skos:exactMatch ncbigene:90525 semapv:UnspecifiedMatching -OMIM:617314 SH3YL1 skos:exactMatch hgnc:SH3YL1 semapv:UnspecifiedMatching +OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:29546 semapv:UnspecifiedMatching +OMIM:617314 SH3YL1 skos:exactMatch hgnc.symbol:SH3YL1 semapv:UnspecifiedMatching OMIM:617314 SH3YL1 skos:exactMatch ncbigene:26751 semapv:UnspecifiedMatching -OMIM:617316 TP53TG5 skos:exactMatch hgnc:TP53TG5 semapv:UnspecifiedMatching +OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:15856 semapv:UnspecifiedMatching +OMIM:617316 TP53TG5 skos:exactMatch hgnc.symbol:TP53TG5 semapv:UnspecifiedMatching OMIM:617316 TP53TG5 skos:exactMatch ncbigene:27296 semapv:UnspecifiedMatching -OMIM:617317 ZFP30 skos:exactMatch hgnc:ZFP30 semapv:UnspecifiedMatching +OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:29555 semapv:UnspecifiedMatching +OMIM:617317 ZFP30 skos:exactMatch hgnc.symbol:ZFP30 semapv:UnspecifiedMatching OMIM:617317 ZFP30 skos:exactMatch ncbigene:22835 semapv:UnspecifiedMatching -OMIM:617318 RUSC1 skos:exactMatch hgnc:RUSC1 semapv:UnspecifiedMatching +OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:17153 semapv:UnspecifiedMatching +OMIM:617318 RUSC1 skos:exactMatch hgnc.symbol:RUSC1 semapv:UnspecifiedMatching OMIM:617318 RUSC1 skos:exactMatch ncbigene:23623 semapv:UnspecifiedMatching OMIM:617321 yao syndrome skos:exactMatch UMLS:C4310620 semapv:UnspecifiedMatching -OMIM:617322 SHKBP1 skos:exactMatch hgnc:SHKBP1 semapv:UnspecifiedMatching +OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:19214 semapv:UnspecifiedMatching +OMIM:617322 SHKBP1 skos:exactMatch hgnc.symbol:SHKBP1 semapv:UnspecifiedMatching OMIM:617322 SHKBP1 skos:exactMatch ncbigene:92799 semapv:UnspecifiedMatching -OMIM:617324 SHISA2 skos:exactMatch hgnc:SHISA2 semapv:UnspecifiedMatching +OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:20366 semapv:UnspecifiedMatching +OMIM:617324 SHISA2 skos:exactMatch hgnc.symbol:SHISA2 semapv:UnspecifiedMatching OMIM:617324 SHISA2 skos:exactMatch ncbigene:387914 semapv:UnspecifiedMatching -OMIM:617325 SHISA3 skos:exactMatch hgnc:SHISA3 semapv:UnspecifiedMatching +OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:25159 semapv:UnspecifiedMatching +OMIM:617325 SHISA3 skos:exactMatch hgnc.symbol:SHISA3 semapv:UnspecifiedMatching OMIM:617325 SHISA3 skos:exactMatch ncbigene:152573 semapv:UnspecifiedMatching -OMIM:617326 SHISA4 skos:exactMatch hgnc:SHISA4 semapv:UnspecifiedMatching +OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:27139 semapv:UnspecifiedMatching +OMIM:617326 SHISA4 skos:exactMatch hgnc.symbol:SHISA4 semapv:UnspecifiedMatching OMIM:617326 SHISA4 skos:exactMatch ncbigene:149345 semapv:UnspecifiedMatching -OMIM:617327 SHISA6 skos:exactMatch hgnc:SHISA6 semapv:UnspecifiedMatching +OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:34491 semapv:UnspecifiedMatching +OMIM:617327 SHISA6 skos:exactMatch hgnc.symbol:SHISA6 semapv:UnspecifiedMatching OMIM:617327 SHISA6 skos:exactMatch ncbigene:388336 semapv:UnspecifiedMatching OMIM:617328 SHISA7 skos:exactMatch UMLS:C2828684 semapv:UnspecifiedMatching -OMIM:617328 SHISA7 skos:exactMatch hgnc:SHISA7 semapv:UnspecifiedMatching +OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:35409 semapv:UnspecifiedMatching +OMIM:617328 SHISA7 skos:exactMatch hgnc.symbol:SHISA7 semapv:UnspecifiedMatching OMIM:617328 SHISA7 skos:exactMatch ncbigene:729956 semapv:UnspecifiedMatching -OMIM:617329 SHISA8 skos:exactMatch hgnc:SHISA8 semapv:UnspecifiedMatching +OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:18351 semapv:UnspecifiedMatching +OMIM:617329 SHISA8 skos:exactMatch hgnc.symbol:SHISA8 semapv:UnspecifiedMatching OMIM:617329 SHISA8 skos:exactMatch ncbigene:440829 semapv:UnspecifiedMatching -OMIM:617331 MFSD4B skos:exactMatch hgnc:MFSD4B semapv:UnspecifiedMatching +OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:21053 semapv:UnspecifiedMatching +OMIM:617331 MFSD4B skos:exactMatch hgnc.symbol:MFSD4B semapv:UnspecifiedMatching OMIM:617331 MFSD4B skos:exactMatch ncbigene:91749 semapv:UnspecifiedMatching -OMIM:617332 TERB1 skos:exactMatch hgnc:TERB1 semapv:UnspecifiedMatching +OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:26675 semapv:UnspecifiedMatching +OMIM:617332 TERB1 skos:exactMatch hgnc.symbol:TERB1 semapv:UnspecifiedMatching OMIM:617332 TERB1 skos:exactMatch ncbigene:283847 semapv:UnspecifiedMatching OMIM:617333 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch UMLS:C4310617 semapv:UnspecifiedMatching -OMIM:617334 ZDHHC23 skos:exactMatch hgnc:ZDHHC23 semapv:UnspecifiedMatching +OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:28654 semapv:UnspecifiedMatching +OMIM:617334 ZDHHC23 skos:exactMatch hgnc.symbol:ZDHHC23 semapv:UnspecifiedMatching OMIM:617334 ZDHHC23 skos:exactMatch ncbigene:254887 semapv:UnspecifiedMatching -OMIM:617335 EBPL skos:exactMatch hgnc:EBPL semapv:UnspecifiedMatching +OMIM:617335 EBPL skos:exactMatch hgnc.symbol:18061 semapv:UnspecifiedMatching +OMIM:617335 EBPL skos:exactMatch hgnc.symbol:EBPL semapv:UnspecifiedMatching OMIM:617335 EBPL skos:exactMatch ncbigene:84650 semapv:UnspecifiedMatching -OMIM:617338 NUDT16L1 skos:exactMatch hgnc:NUDT16L1 semapv:UnspecifiedMatching +OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:28154 semapv:UnspecifiedMatching +OMIM:617338 NUDT16L1 skos:exactMatch hgnc.symbol:NUDT16L1 semapv:UnspecifiedMatching OMIM:617338 NUDT16L1 skos:exactMatch ncbigene:84309 semapv:UnspecifiedMatching OMIM:617339 developmental and epileptic encephalopathy 51 skos:exactMatch UMLS:C4479208 semapv:UnspecifiedMatching -OMIM:617340 UPP2 skos:exactMatch hgnc:UPP2 semapv:UnspecifiedMatching +OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:23061 semapv:UnspecifiedMatching +OMIM:617340 UPP2 skos:exactMatch hgnc.symbol:UPP2 semapv:UnspecifiedMatching OMIM:617340 UPP2 skos:exactMatch ncbigene:151531 semapv:UnspecifiedMatching -OMIM:617342 PTRHD1 skos:exactMatch hgnc:PTRHD1 semapv:UnspecifiedMatching +OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:33782 semapv:UnspecifiedMatching +OMIM:617342 PTRHD1 skos:exactMatch hgnc.symbol:PTRHD1 semapv:UnspecifiedMatching OMIM:617342 PTRHD1 skos:exactMatch ncbigene:391356 semapv:UnspecifiedMatching -OMIM:617344 PRAG1 skos:exactMatch hgnc:PRAG1 semapv:UnspecifiedMatching +OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:25438 semapv:UnspecifiedMatching +OMIM:617344 PRAG1 skos:exactMatch hgnc.symbol:PRAG1 semapv:UnspecifiedMatching OMIM:617344 PRAG1 skos:exactMatch ncbigene:157285 semapv:UnspecifiedMatching -OMIM:617345 AGBL2 skos:exactMatch hgnc:AGBL2 semapv:UnspecifiedMatching +OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:26296 semapv:UnspecifiedMatching +OMIM:617345 AGBL2 skos:exactMatch hgnc.symbol:AGBL2 semapv:UnspecifiedMatching OMIM:617345 AGBL2 skos:exactMatch ncbigene:79841 semapv:UnspecifiedMatching OMIM:617346 AGBL3 skos:exactMatch UMLS:C1826609 semapv:UnspecifiedMatching -OMIM:617346 AGBL3 skos:exactMatch hgnc:AGBL3 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:27981 semapv:UnspecifiedMatching +OMIM:617346 AGBL3 skos:exactMatch hgnc.symbol:AGBL3 semapv:UnspecifiedMatching OMIM:617346 AGBL3 skos:exactMatch ncbigene:340351 semapv:UnspecifiedMatching -OMIM:617348 CPXM2 skos:exactMatch hgnc:CPXM2 semapv:UnspecifiedMatching +OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:26977 semapv:UnspecifiedMatching +OMIM:617348 CPXM2 skos:exactMatch hgnc.symbol:CPXM2 semapv:UnspecifiedMatching OMIM:617348 CPXM2 skos:exactMatch ncbigene:119587 semapv:UnspecifiedMatching +OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch UMLS:C4479236 semapv:UnspecifiedMatching -OMIM:617350 developmental and epileptic encephalopathy 52 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:617351 IGSF10 skos:exactMatch hgnc:IGSF10 semapv:UnspecifiedMatching +OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:26384 semapv:UnspecifiedMatching +OMIM:617351 IGSF10 skos:exactMatch hgnc.symbol:IGSF10 semapv:UnspecifiedMatching OMIM:617351 IGSF10 skos:exactMatch ncbigene:285313 semapv:UnspecifiedMatching -OMIM:617353 TCTEX1D2 skos:exactMatch hgnc:DYNLT2B semapv:UnspecifiedMatching -OMIM:617353 TCTEX1D2 skos:exactMatch ncbigene:255758 semapv:UnspecifiedMatching -OMIM:617354 CBX8 skos:exactMatch hgnc:CBX8 semapv:UnspecifiedMatching +OMIM:617353 DYNLT2B skos:exactMatch hgnc.symbol:28482 semapv:UnspecifiedMatching +OMIM:617353 DYNLT2B skos:exactMatch hgnc.symbol:DYNLT2B semapv:UnspecifiedMatching +OMIM:617353 DYNLT2B skos:exactMatch ncbigene:255758 semapv:UnspecifiedMatching +OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:15962 semapv:UnspecifiedMatching +OMIM:617354 CBX8 skos:exactMatch hgnc.symbol:CBX8 semapv:UnspecifiedMatching OMIM:617354 CBX8 skos:exactMatch ncbigene:57332 semapv:UnspecifiedMatching -OMIM:617355 EID2B skos:exactMatch hgnc:EID2B semapv:UnspecifiedMatching +OMIM:617355 EID2B skos:exactMatch hgnc.symbol:26796 semapv:UnspecifiedMatching +OMIM:617355 EID2B skos:exactMatch hgnc.symbol:EID2B semapv:UnspecifiedMatching OMIM:617355 EID2B skos:exactMatch ncbigene:126272 semapv:UnspecifiedMatching -OMIM:617356 SSPO skos:exactMatch hgnc:SSPOP semapv:UnspecifiedMatching +OMIM:617356 SSPO skos:exactMatch hgnc.symbol:21998 semapv:UnspecifiedMatching +OMIM:617356 SSPO skos:exactMatch hgnc.symbol:SSPOP semapv:UnspecifiedMatching OMIM:617356 SSPO skos:exactMatch ncbigene:23145 semapv:UnspecifiedMatching -OMIM:617357 ZNF222 skos:exactMatch hgnc:ZNF222 semapv:UnspecifiedMatching +OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:13015 semapv:UnspecifiedMatching +OMIM:617357 ZNF222 skos:exactMatch hgnc.symbol:ZNF222 semapv:UnspecifiedMatching OMIM:617357 ZNF222 skos:exactMatch ncbigene:7673 semapv:UnspecifiedMatching -OMIM:617358 SDCBP2 skos:exactMatch hgnc:SDCBP2 semapv:UnspecifiedMatching +OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:15756 semapv:UnspecifiedMatching +OMIM:617358 SDCBP2 skos:exactMatch hgnc.symbol:SDCBP2 semapv:UnspecifiedMatching OMIM:617358 SDCBP2 skos:exactMatch ncbigene:27111 semapv:UnspecifiedMatching -OMIM:617359 STOX2 skos:exactMatch hgnc:STOX2 semapv:UnspecifiedMatching +OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:25450 semapv:UnspecifiedMatching +OMIM:617359 STOX2 skos:exactMatch hgnc.symbol:STOX2 semapv:UnspecifiedMatching OMIM:617359 STOX2 skos:exactMatch ncbigene:56977 semapv:UnspecifiedMatching -OMIM:617361 TMEM108 skos:exactMatch hgnc:TMEM108 semapv:UnspecifiedMatching +OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:28451 semapv:UnspecifiedMatching +OMIM:617361 TMEM108 skos:exactMatch hgnc.symbol:TMEM108 semapv:UnspecifiedMatching OMIM:617361 TMEM108 skos:exactMatch ncbigene:66000 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C0266427 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C1424824 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C5231546 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C5231547 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch UMLS:C5231548 semapv:UnspecifiedMatching -OMIM:617362 DHX37 skos:exactMatch hgnc:DHX37 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:17210 semapv:UnspecifiedMatching +OMIM:617362 DHX37 skos:exactMatch hgnc.symbol:DHX37 semapv:UnspecifiedMatching OMIM:617362 DHX37 skos:exactMatch ncbigene:57647 semapv:UnspecifiedMatching -OMIM:617363 TMEM132A skos:exactMatch hgnc:TMEM132A semapv:UnspecifiedMatching +OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:31092 semapv:UnspecifiedMatching +OMIM:617363 TMEM132A skos:exactMatch hgnc.symbol:TMEM132A semapv:UnspecifiedMatching OMIM:617363 TMEM132A skos:exactMatch ncbigene:54972 semapv:UnspecifiedMatching OMIM:617365 AAR2 skos:exactMatch UMLS:C1423806 semapv:UnspecifiedMatching -OMIM:617365 AAR2 skos:exactMatch hgnc:AAR2 semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:15886 semapv:UnspecifiedMatching +OMIM:617365 AAR2 skos:exactMatch hgnc.symbol:AAR2 semapv:UnspecifiedMatching OMIM:617365 AAR2 skos:exactMatch ncbigene:25980 semapv:UnspecifiedMatching -OMIM:617366 CCDC91 skos:exactMatch hgnc:CCDC91 semapv:UnspecifiedMatching +OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:24855 semapv:UnspecifiedMatching +OMIM:617366 CCDC91 skos:exactMatch hgnc.symbol:CCDC91 semapv:UnspecifiedMatching OMIM:617366 CCDC91 skos:exactMatch ncbigene:55297 semapv:UnspecifiedMatching -OMIM:617367 KIAA1217 skos:exactMatch hgnc:KIAA1217 semapv:UnspecifiedMatching +OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:25428 semapv:UnspecifiedMatching +OMIM:617367 KIAA1217 skos:exactMatch hgnc.symbol:KIAA1217 semapv:UnspecifiedMatching OMIM:617367 KIAA1217 skos:exactMatch ncbigene:56243 semapv:UnspecifiedMatching OMIM:617368 SH3BP1 skos:exactMatch UMLS:C1420021 semapv:UnspecifiedMatching OMIM:617368 SH3BP1 skos:exactMatch UMLS:C4479253 semapv:UnspecifiedMatching -OMIM:617368 SH3BP1 skos:exactMatch hgnc:SH3BP1 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:10824 semapv:UnspecifiedMatching +OMIM:617368 SH3BP1 skos:exactMatch hgnc.symbol:SH3BP1 semapv:UnspecifiedMatching OMIM:617368 SH3BP1 skos:exactMatch ncbigene:23616 semapv:UnspecifiedMatching -OMIM:617369 HABP4 skos:exactMatch hgnc:HABP4 semapv:UnspecifiedMatching +OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:17062 semapv:UnspecifiedMatching +OMIM:617369 HABP4 skos:exactMatch hgnc.symbol:HABP4 semapv:UnspecifiedMatching OMIM:617369 HABP4 skos:exactMatch ncbigene:22927 semapv:UnspecifiedMatching -OMIM:617371 ZNF462 skos:exactMatch hgnc:ZNF462 semapv:UnspecifiedMatching +OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:21684 semapv:UnspecifiedMatching +OMIM:617371 ZNF462 skos:exactMatch hgnc.symbol:ZNF462 semapv:UnspecifiedMatching OMIM:617371 ZNF462 skos:exactMatch ncbigene:58499 semapv:UnspecifiedMatching -OMIM:617372 SHC4 skos:exactMatch hgnc:SHC4 semapv:UnspecifiedMatching +OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:16743 semapv:UnspecifiedMatching +OMIM:617372 SHC4 skos:exactMatch hgnc.symbol:SHC4 semapv:UnspecifiedMatching OMIM:617372 SHC4 skos:exactMatch ncbigene:399694 semapv:UnspecifiedMatching -OMIM:617373 PRRC2C skos:exactMatch hgnc:PRRC2C semapv:UnspecifiedMatching +OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:24903 semapv:UnspecifiedMatching +OMIM:617373 PRRC2C skos:exactMatch hgnc.symbol:PRRC2C semapv:UnspecifiedMatching OMIM:617373 PRRC2C skos:exactMatch ncbigene:23215 semapv:UnspecifiedMatching -OMIM:617374 INCA1 skos:exactMatch hgnc:INCA1 semapv:UnspecifiedMatching +OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:32224 semapv:UnspecifiedMatching +OMIM:617374 INCA1 skos:exactMatch hgnc.symbol:INCA1 semapv:UnspecifiedMatching OMIM:617374 INCA1 skos:exactMatch ncbigene:388324 semapv:UnspecifiedMatching -OMIM:617375 KLHDC9 skos:exactMatch hgnc:KLHDC9 semapv:UnspecifiedMatching +OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:28489 semapv:UnspecifiedMatching +OMIM:617375 KLHDC9 skos:exactMatch hgnc.symbol:KLHDC9 semapv:UnspecifiedMatching OMIM:617375 KLHDC9 skos:exactMatch ncbigene:126823 semapv:UnspecifiedMatching -OMIM:617376 PROCA1 skos:exactMatch hgnc:PROCA1 semapv:UnspecifiedMatching +OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:28600 semapv:UnspecifiedMatching +OMIM:617376 PROCA1 skos:exactMatch hgnc.symbol:PROCA1 semapv:UnspecifiedMatching OMIM:617376 PROCA1 skos:exactMatch ncbigene:147011 semapv:UnspecifiedMatching OMIM:617377 SYDE1 skos:exactMatch UMLS:C1823159 semapv:UnspecifiedMatching -OMIM:617377 SYDE1 skos:exactMatch hgnc:SYDE1 semapv:UnspecifiedMatching +OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:25824 semapv:UnspecifiedMatching +OMIM:617377 SYDE1 skos:exactMatch hgnc.symbol:SYDE1 semapv:UnspecifiedMatching OMIM:617377 SYDE1 skos:exactMatch ncbigene:85360 semapv:UnspecifiedMatching OMIM:617378 MYL11 skos:exactMatch UMLS:C2681932 semapv:UnspecifiedMatching OMIM:617378 MYL11 skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching -OMIM:617378 MYL11 skos:exactMatch hgnc:MYL11 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:29824 semapv:UnspecifiedMatching +OMIM:617378 MYL11 skos:exactMatch hgnc.symbol:MYL11 semapv:UnspecifiedMatching OMIM:617378 MYL11 skos:exactMatch ncbigene:29895 semapv:UnspecifiedMatching -OMIM:617379 MYO19 skos:exactMatch hgnc:MYO19 semapv:UnspecifiedMatching +OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:26234 semapv:UnspecifiedMatching +OMIM:617379 MYO19 skos:exactMatch hgnc.symbol:MYO19 semapv:UnspecifiedMatching OMIM:617379 MYO19 skos:exactMatch ncbigene:80179 semapv:UnspecifiedMatching OMIM:617380 TIMM29 skos:exactMatch UMLS:C4321054 semapv:UnspecifiedMatching -OMIM:617380 TIMM29 skos:exactMatch hgnc:TIMM29 semapv:UnspecifiedMatching +OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:25152 semapv:UnspecifiedMatching +OMIM:617380 TIMM29 skos:exactMatch hgnc.symbol:TIMM29 semapv:UnspecifiedMatching OMIM:617380 TIMM29 skos:exactMatch ncbigene:90580 semapv:UnspecifiedMatching -OMIM:617381 NUDT16 skos:exactMatch hgnc:NUDT16 semapv:UnspecifiedMatching +OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:26442 semapv:UnspecifiedMatching +OMIM:617381 NUDT16 skos:exactMatch hgnc.symbol:NUDT16 semapv:UnspecifiedMatching OMIM:617381 NUDT16 skos:exactMatch ncbigene:131870 semapv:UnspecifiedMatching -OMIM:617382 STARD10 skos:exactMatch hgnc:STARD10 semapv:UnspecifiedMatching +OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:10666 semapv:UnspecifiedMatching +OMIM:617382 STARD10 skos:exactMatch hgnc.symbol:STARD10 semapv:UnspecifiedMatching OMIM:617382 STARD10 skos:exactMatch ncbigene:10809 semapv:UnspecifiedMatching -OMIM:617385 ATP6V1E2 skos:exactMatch hgnc:ATP6V1E2 semapv:UnspecifiedMatching +OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:18125 semapv:UnspecifiedMatching +OMIM:617385 ATP6V1E2 skos:exactMatch hgnc.symbol:ATP6V1E2 semapv:UnspecifiedMatching OMIM:617385 ATP6V1E2 skos:exactMatch ncbigene:90423 semapv:UnspecifiedMatching -OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc:NR1H5P semapv:UnspecifiedMatching -OMIM:617387 QRICH1 skos:exactMatch hgnc:QRICH1 semapv:UnspecifiedMatching +OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:32673 semapv:UnspecifiedMatching +OMIM:617386 nuclear receptor subfamily 1, group h, member 5, pseudogene skos:exactMatch hgnc.symbol:NR1H5P semapv:UnspecifiedMatching +OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:24713 semapv:UnspecifiedMatching +OMIM:617387 QRICH1 skos:exactMatch hgnc.symbol:QRICH1 semapv:UnspecifiedMatching OMIM:617387 QRICH1 skos:exactMatch ncbigene:54870 semapv:UnspecifiedMatching +OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch UMLS:C4479313 semapv:UnspecifiedMatching -OMIM:617389 developmental and epileptic encephalopathy 53 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:617390 KIAA1958 skos:exactMatch hgnc:KIAA1958 semapv:UnspecifiedMatching +OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:23427 semapv:UnspecifiedMatching +OMIM:617390 KIAA1958 skos:exactMatch hgnc.symbol:KIAA1958 semapv:UnspecifiedMatching OMIM:617390 KIAA1958 skos:exactMatch ncbigene:158405 semapv:UnspecifiedMatching +OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch UMLS:C4479319 semapv:UnspecifiedMatching -OMIM:617391 developmental and epileptic encephalopathy 54 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching +OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch Orphanet:481665 semapv:UnspecifiedMatching OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch UMLS:C4479376 semapv:UnspecifiedMatching -OMIM:617397 pseudo-torch syndrome 2 skos:exactMatch orphanet.ordo:481665 semapv:UnspecifiedMatching -OMIM:617398 FKBP15 skos:exactMatch hgnc:FKBP15 semapv:UnspecifiedMatching +OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:23397 semapv:UnspecifiedMatching +OMIM:617398 FKBP15 skos:exactMatch hgnc.symbol:FKBP15 semapv:UnspecifiedMatching OMIM:617398 FKBP15 skos:exactMatch ncbigene:23307 semapv:UnspecifiedMatching -OMIM:617399 PXMP2 skos:exactMatch hgnc:PXMP2 semapv:UnspecifiedMatching +OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:9716 semapv:UnspecifiedMatching +OMIM:617399 PXMP2 skos:exactMatch hgnc.symbol:PXMP2 semapv:UnspecifiedMatching OMIM:617399 PXMP2 skos:exactMatch ncbigene:5827 semapv:UnspecifiedMatching -OMIM:617400 EPHX3 skos:exactMatch hgnc:EPHX3 semapv:UnspecifiedMatching +OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:23760 semapv:UnspecifiedMatching +OMIM:617400 EPHX3 skos:exactMatch hgnc.symbol:EPHX3 semapv:UnspecifiedMatching OMIM:617400 EPHX3 skos:exactMatch ncbigene:79852 semapv:UnspecifiedMatching -OMIM:617401 EPHX4 skos:exactMatch hgnc:EPHX4 semapv:UnspecifiedMatching +OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:23758 semapv:UnspecifiedMatching +OMIM:617401 EPHX4 skos:exactMatch hgnc.symbol:EPHX4 semapv:UnspecifiedMatching OMIM:617401 EPHX4 skos:exactMatch ncbigene:253152 semapv:UnspecifiedMatching +OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch UMLS:C4479387 semapv:UnspecifiedMatching -OMIM:617402 cutis laxa, autosomal recessive, iia 2c skos:exactMatch orphanet.ordo:357074 semapv:UnspecifiedMatching +OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching -OMIM:617403 cutis laxa, autosomal recessive, iia 2d skos:exactMatch orphanet.ordo:357074 semapv:UnspecifiedMatching -OMIM:617407 PCGF5 skos:exactMatch hgnc:PCGF5 semapv:UnspecifiedMatching +OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:28264 semapv:UnspecifiedMatching +OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:PCGF5 semapv:UnspecifiedMatching OMIM:617407 PCGF5 skos:exactMatch ncbigene:84333 semapv:UnspecifiedMatching -OMIM:617410 ZNF419 skos:exactMatch hgnc:ZNF419 semapv:UnspecifiedMatching +OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:20648 semapv:UnspecifiedMatching +OMIM:617410 ZNF419 skos:exactMatch hgnc.symbol:ZNF419 semapv:UnspecifiedMatching OMIM:617410 ZNF419 skos:exactMatch ncbigene:79744 semapv:UnspecifiedMatching -OMIM:617411 ARFGEF3 skos:exactMatch hgnc:ARFGEF3 semapv:UnspecifiedMatching +OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:21213 semapv:UnspecifiedMatching +OMIM:617411 ARFGEF3 skos:exactMatch hgnc.symbol:ARFGEF3 semapv:UnspecifiedMatching OMIM:617411 ARFGEF3 skos:exactMatch ncbigene:57221 semapv:UnspecifiedMatching -OMIM:617413 PRUNE1 skos:exactMatch hgnc:PRUNE1 semapv:UnspecifiedMatching +OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:13420 semapv:UnspecifiedMatching +OMIM:617413 PRUNE1 skos:exactMatch hgnc.symbol:PRUNE1 semapv:UnspecifiedMatching OMIM:617413 PRUNE1 skos:exactMatch ncbigene:58497 semapv:UnspecifiedMatching -OMIM:617414 RPL14 skos:exactMatch hgnc:RPL14 semapv:UnspecifiedMatching +OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:10305 semapv:UnspecifiedMatching +OMIM:617414 RPL14 skos:exactMatch hgnc.symbol:RPL14 semapv:UnspecifiedMatching OMIM:617414 RPL14 skos:exactMatch ncbigene:9045 semapv:UnspecifiedMatching -OMIM:617415 RPL31 skos:exactMatch hgnc:RPL31 semapv:UnspecifiedMatching +OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:10334 semapv:UnspecifiedMatching +OMIM:617415 RPL31 skos:exactMatch hgnc.symbol:RPL31 semapv:UnspecifiedMatching OMIM:617415 RPL31 skos:exactMatch ncbigene:6160 semapv:UnspecifiedMatching -OMIM:617416 RPL3L skos:exactMatch hgnc:RPL3L semapv:UnspecifiedMatching +OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:10351 semapv:UnspecifiedMatching +OMIM:617416 RPL3L skos:exactMatch hgnc.symbol:RPL3L semapv:UnspecifiedMatching OMIM:617416 RPL3L skos:exactMatch ncbigene:6123 semapv:UnspecifiedMatching -OMIM:617417 RPL7L1 skos:exactMatch hgnc:RPL7L1 semapv:UnspecifiedMatching +OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:21370 semapv:UnspecifiedMatching +OMIM:617417 RPL7L1 skos:exactMatch hgnc.symbol:RPL7L1 semapv:UnspecifiedMatching OMIM:617417 RPL7L1 skos:exactMatch ncbigene:285855 semapv:UnspecifiedMatching -OMIM:617418 WDR59 skos:exactMatch hgnc:WDR59 semapv:UnspecifiedMatching +OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:25706 semapv:UnspecifiedMatching +OMIM:617418 WDR59 skos:exactMatch hgnc.symbol:WDR59 semapv:UnspecifiedMatching OMIM:617418 WDR59 skos:exactMatch ncbigene:79726 semapv:UnspecifiedMatching -OMIM:617419 P3H4 skos:exactMatch hgnc:P3H4 semapv:UnspecifiedMatching +OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:16946 semapv:UnspecifiedMatching +OMIM:617419 P3H4 skos:exactMatch hgnc.symbol:P3H4 semapv:UnspecifiedMatching OMIM:617419 P3H4 skos:exactMatch ncbigene:10609 semapv:UnspecifiedMatching -OMIM:617420 KICS2 skos:exactMatch hgnc:KICS2 semapv:UnspecifiedMatching +OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:26517 semapv:UnspecifiedMatching +OMIM:617420 KICS2 skos:exactMatch hgnc.symbol:KICS2 semapv:UnspecifiedMatching OMIM:617420 KICS2 skos:exactMatch ncbigene:144577 semapv:UnspecifiedMatching -OMIM:617421 ITFG2 skos:exactMatch hgnc:ITFG2 semapv:UnspecifiedMatching +OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:30879 semapv:UnspecifiedMatching +OMIM:617421 ITFG2 skos:exactMatch hgnc.symbol:ITFG2 semapv:UnspecifiedMatching OMIM:617421 ITFG2 skos:exactMatch ncbigene:55846 semapv:UnspecifiedMatching -OMIM:617422 ADNP2 skos:exactMatch hgnc:ADNP2 semapv:UnspecifiedMatching +OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:23803 semapv:UnspecifiedMatching +OMIM:617422 ADNP2 skos:exactMatch hgnc.symbol:ADNP2 semapv:UnspecifiedMatching OMIM:617422 ADNP2 skos:exactMatch ncbigene:22850 semapv:UnspecifiedMatching -OMIM:617423 PRR14 skos:exactMatch hgnc:PRR14 semapv:UnspecifiedMatching +OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:28458 semapv:UnspecifiedMatching +OMIM:617423 PRR14 skos:exactMatch hgnc.symbol:PRR14 semapv:UnspecifiedMatching OMIM:617423 PRR14 skos:exactMatch ncbigene:78994 semapv:UnspecifiedMatching -OMIM:617424 WDR26 skos:exactMatch hgnc:WDR26 semapv:UnspecifiedMatching +OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:21208 semapv:UnspecifiedMatching +OMIM:617424 WDR26 skos:exactMatch hgnc.symbol:WDR26 semapv:UnspecifiedMatching OMIM:617424 WDR26 skos:exactMatch ncbigene:80232 semapv:UnspecifiedMatching -OMIM:617426 CRCT1 skos:exactMatch hgnc:CRCT1 semapv:UnspecifiedMatching +OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:29875 semapv:UnspecifiedMatching +OMIM:617426 CRCT1 skos:exactMatch hgnc.symbol:CRCT1 semapv:UnspecifiedMatching OMIM:617426 CRCT1 skos:exactMatch ncbigene:54544 semapv:UnspecifiedMatching -OMIM:617427 S100A7A skos:exactMatch hgnc:S100A7A semapv:UnspecifiedMatching +OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:21657 semapv:UnspecifiedMatching +OMIM:617427 S100A7A skos:exactMatch hgnc.symbol:S100A7A semapv:UnspecifiedMatching OMIM:617427 S100A7A skos:exactMatch ncbigene:338324 semapv:UnspecifiedMatching -OMIM:617428 C1ORF43 skos:exactMatch hgnc:C1orf43 semapv:UnspecifiedMatching +OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:29876 semapv:UnspecifiedMatching +OMIM:617428 C1ORF43 skos:exactMatch hgnc.symbol:C1orf43 semapv:UnspecifiedMatching OMIM:617428 C1ORF43 skos:exactMatch ncbigene:25912 semapv:UnspecifiedMatching -OMIM:617429 UBE2Q1 skos:exactMatch hgnc:UBE2Q1 semapv:UnspecifiedMatching +OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:15698 semapv:UnspecifiedMatching +OMIM:617429 UBE2Q1 skos:exactMatch hgnc.symbol:UBE2Q1 semapv:UnspecifiedMatching OMIM:617429 UBE2Q1 skos:exactMatch ncbigene:55585 semapv:UnspecifiedMatching -OMIM:617430 ADGRF1 skos:exactMatch hgnc:ADGRF1 semapv:UnspecifiedMatching +OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:18990 semapv:UnspecifiedMatching +OMIM:617430 ADGRF1 skos:exactMatch hgnc.symbol:ADGRF1 semapv:UnspecifiedMatching OMIM:617430 ADGRF1 skos:exactMatch ncbigene:266977 semapv:UnspecifiedMatching -OMIM:617431 USP53 skos:exactMatch hgnc:USP53 semapv:UnspecifiedMatching +OMIM:617431 USP53 skos:exactMatch hgnc.symbol:29255 semapv:UnspecifiedMatching +OMIM:617431 USP53 skos:exactMatch hgnc.symbol:USP53 semapv:UnspecifiedMatching OMIM:617431 USP53 skos:exactMatch ncbigene:54532 semapv:UnspecifiedMatching -OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc:CERNA2 semapv:UnspecifiedMatching +OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:51354 semapv:UnspecifiedMatching +OMIM:617434 long noncoding RNA host2 skos:exactMatch hgnc.symbol:CERNA2 semapv:UnspecifiedMatching OMIM:617434 long noncoding RNA host2 skos:exactMatch ncbigene:642934 semapv:UnspecifiedMatching OMIM:617436 GON7 skos:exactMatch UMLS:C4320392 semapv:UnspecifiedMatching -OMIM:617436 GON7 skos:exactMatch hgnc:GON7 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch hgnc.symbol:20356 semapv:UnspecifiedMatching +OMIM:617436 GON7 skos:exactMatch hgnc.symbol:GON7 semapv:UnspecifiedMatching OMIM:617436 GON7 skos:exactMatch ncbigene:84520 semapv:UnspecifiedMatching -OMIM:617437 S100A16 skos:exactMatch hgnc:S100A16 semapv:UnspecifiedMatching +OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:20441 semapv:UnspecifiedMatching +OMIM:617437 S100A16 skos:exactMatch hgnc.symbol:S100A16 semapv:UnspecifiedMatching OMIM:617437 S100A16 skos:exactMatch ncbigene:140576 semapv:UnspecifiedMatching -OMIM:617438 CBX6 skos:exactMatch hgnc:CBX6 semapv:UnspecifiedMatching +OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:1556 semapv:UnspecifiedMatching +OMIM:617438 CBX6 skos:exactMatch hgnc.symbol:CBX6 semapv:UnspecifiedMatching OMIM:617438 CBX6 skos:exactMatch ncbigene:23466 semapv:UnspecifiedMatching -OMIM:617440 PTCSC1 skos:exactMatch hgnc:PTCSC1 semapv:UnspecifiedMatching +OMIM:617440 PTCSC1 skos:exactMatch hgnc.symbol:37127 semapv:UnspecifiedMatching +OMIM:617440 PTCSC1 skos:exactMatch hgnc.symbol:PTCSC1 semapv:UnspecifiedMatching OMIM:617440 PTCSC1 skos:exactMatch ncbigene:100302522 semapv:UnspecifiedMatching -OMIM:617444 ZNF479 skos:exactMatch hgnc:ZNF479 semapv:UnspecifiedMatching +OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:23258 semapv:UnspecifiedMatching +OMIM:617444 ZNF479 skos:exactMatch hgnc.symbol:ZNF479 semapv:UnspecifiedMatching OMIM:617444 ZNF479 skos:exactMatch ncbigene:90827 semapv:UnspecifiedMatching -OMIM:617445 USP48 skos:exactMatch hgnc:USP48 semapv:UnspecifiedMatching +OMIM:617445 USP48 skos:exactMatch hgnc.symbol:18533 semapv:UnspecifiedMatching +OMIM:617445 USP48 skos:exactMatch hgnc.symbol:USP48 semapv:UnspecifiedMatching OMIM:617445 USP48 skos:exactMatch ncbigene:84196 semapv:UnspecifiedMatching OMIM:617446 CHAC2 skos:exactMatch UMLS:C1824731 semapv:UnspecifiedMatching -OMIM:617446 CHAC2 skos:exactMatch hgnc:CHAC2 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:32363 semapv:UnspecifiedMatching +OMIM:617446 CHAC2 skos:exactMatch hgnc.symbol:CHAC2 semapv:UnspecifiedMatching OMIM:617446 CHAC2 skos:exactMatch ncbigene:494143 semapv:UnspecifiedMatching -OMIM:617447 PAN2 skos:exactMatch hgnc:PAN2 semapv:UnspecifiedMatching +OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:20074 semapv:UnspecifiedMatching +OMIM:617447 PAN2 skos:exactMatch hgnc.symbol:PAN2 semapv:UnspecifiedMatching OMIM:617447 PAN2 skos:exactMatch ncbigene:9924 semapv:UnspecifiedMatching -OMIM:617448 PAN3 skos:exactMatch hgnc:PAN3 semapv:UnspecifiedMatching +OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:29991 semapv:UnspecifiedMatching +OMIM:617448 PAN3 skos:exactMatch hgnc.symbol:PAN3 semapv:UnspecifiedMatching OMIM:617448 PAN3 skos:exactMatch ncbigene:255967 semapv:UnspecifiedMatching -OMIM:617449 TMEM260 skos:exactMatch hgnc:TMEM260 semapv:UnspecifiedMatching +OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:20185 semapv:UnspecifiedMatching +OMIM:617449 TMEM260 skos:exactMatch hgnc.symbol:TMEM260 semapv:UnspecifiedMatching OMIM:617449 TMEM260 skos:exactMatch ncbigene:54916 semapv:UnspecifiedMatching -OMIM:617451 AKR1E2 skos:exactMatch hgnc:AKR1E2 semapv:UnspecifiedMatching +OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:23437 semapv:UnspecifiedMatching +OMIM:617451 AKR1E2 skos:exactMatch hgnc.symbol:AKR1E2 semapv:UnspecifiedMatching OMIM:617451 AKR1E2 skos:exactMatch ncbigene:83592 semapv:UnspecifiedMatching -OMIM:617453 TTC26 skos:exactMatch hgnc:IFT56 semapv:UnspecifiedMatching +OMIM:617453 TTC26 skos:exactMatch hgnc.symbol:IFT56 semapv:UnspecifiedMatching OMIM:617453 TTC26 skos:exactMatch ncbigene:79989 semapv:UnspecifiedMatching -OMIM:617454 POLR3C skos:exactMatch hgnc:POLR3C semapv:UnspecifiedMatching +OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:30076 semapv:UnspecifiedMatching +OMIM:617454 POLR3C skos:exactMatch hgnc.symbol:POLR3C semapv:UnspecifiedMatching OMIM:617454 POLR3C skos:exactMatch ncbigene:10623 semapv:UnspecifiedMatching -OMIM:617455 POLR3F skos:exactMatch hgnc:POLR3F semapv:UnspecifiedMatching +OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:15763 semapv:UnspecifiedMatching +OMIM:617455 POLR3F skos:exactMatch hgnc.symbol:POLR3F semapv:UnspecifiedMatching OMIM:617455 POLR3F skos:exactMatch ncbigene:10621 semapv:UnspecifiedMatching -OMIM:617456 POLR3G skos:exactMatch hgnc:POLR3G semapv:UnspecifiedMatching +OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:30075 semapv:UnspecifiedMatching +OMIM:617456 POLR3G skos:exactMatch hgnc.symbol:POLR3G semapv:UnspecifiedMatching OMIM:617456 POLR3G skos:exactMatch ncbigene:10622 semapv:UnspecifiedMatching -OMIM:617457 POLR3GL skos:exactMatch hgnc:POLR3GL semapv:UnspecifiedMatching +OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:28466 semapv:UnspecifiedMatching +OMIM:617457 POLR3GL skos:exactMatch hgnc.symbol:POLR3GL semapv:UnspecifiedMatching OMIM:617457 POLR3GL skos:exactMatch ncbigene:84265 semapv:UnspecifiedMatching -OMIM:617458 PRKRIP1 skos:exactMatch hgnc:PRKRIP1 semapv:UnspecifiedMatching +OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:21894 semapv:UnspecifiedMatching +OMIM:617458 PRKRIP1 skos:exactMatch hgnc.symbol:PRKRIP1 semapv:UnspecifiedMatching OMIM:617458 PRKRIP1 skos:exactMatch ncbigene:79706 semapv:UnspecifiedMatching -OMIM:617459 TMCC3 skos:exactMatch hgnc:TMCC3 semapv:UnspecifiedMatching +OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:29199 semapv:UnspecifiedMatching +OMIM:617459 TMCC3 skos:exactMatch hgnc.symbol:TMCC3 semapv:UnspecifiedMatching OMIM:617459 TMCC3 skos:exactMatch ncbigene:57458 semapv:UnspecifiedMatching -OMIM:617461 YBEY skos:exactMatch hgnc:YBEY semapv:UnspecifiedMatching +OMIM:617461 YBEY skos:exactMatch hgnc.symbol:1299 semapv:UnspecifiedMatching +OMIM:617461 YBEY skos:exactMatch hgnc.symbol:YBEY semapv:UnspecifiedMatching OMIM:617461 YBEY skos:exactMatch ncbigene:54059 semapv:UnspecifiedMatching -OMIM:617462 PPRC1 skos:exactMatch hgnc:PPRC1 semapv:UnspecifiedMatching +OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:30025 semapv:UnspecifiedMatching +OMIM:617462 PPRC1 skos:exactMatch hgnc.symbol:PPRC1 semapv:UnspecifiedMatching OMIM:617462 PPRC1 skos:exactMatch ncbigene:23082 semapv:UnspecifiedMatching OMIM:617463 UNKL skos:exactMatch UMLS:C1422471 semapv:UnspecifiedMatching -OMIM:617463 UNKL skos:exactMatch hgnc:UNKL semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch hgnc.symbol:14184 semapv:UnspecifiedMatching +OMIM:617463 UNKL skos:exactMatch hgnc.symbol:UNKL semapv:UnspecifiedMatching OMIM:617463 UNKL skos:exactMatch ncbigene:64718 semapv:UnspecifiedMatching -OMIM:617464 UNC5CL skos:exactMatch hgnc:UNC5CL semapv:UnspecifiedMatching +OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:21203 semapv:UnspecifiedMatching +OMIM:617464 UNC5CL skos:exactMatch hgnc.symbol:UNC5CL semapv:UnspecifiedMatching OMIM:617464 UNC5CL skos:exactMatch ncbigene:222643 semapv:UnspecifiedMatching -OMIM:617465 SMIM20 skos:exactMatch hgnc:SMIM20 semapv:UnspecifiedMatching +OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:37260 semapv:UnspecifiedMatching +OMIM:617465 SMIM20 skos:exactMatch hgnc.symbol:SMIM20 semapv:UnspecifiedMatching OMIM:617465 SMIM20 skos:exactMatch ncbigene:389203 semapv:UnspecifiedMatching -OMIM:617467 FRMD4B skos:exactMatch hgnc:FRMD4B semapv:UnspecifiedMatching +OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:24886 semapv:UnspecifiedMatching +OMIM:617467 FRMD4B skos:exactMatch hgnc.symbol:FRMD4B semapv:UnspecifiedMatching OMIM:617467 FRMD4B skos:exactMatch ncbigene:23150 semapv:UnspecifiedMatching +OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch UMLS:C4479539 semapv:UnspecifiedMatching -OMIM:617468 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:exactMatch orphanet.ordo:2680 semapv:UnspecifiedMatching -OMIM:617469 AFG1L skos:exactMatch hgnc:AFG1L semapv:UnspecifiedMatching +OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:16411 semapv:UnspecifiedMatching +OMIM:617469 AFG1L skos:exactMatch hgnc.symbol:AFG1L semapv:UnspecifiedMatching OMIM:617469 AFG1L skos:exactMatch ncbigene:246269 semapv:UnspecifiedMatching -OMIM:617470 USPL1 skos:exactMatch hgnc:USPL1 semapv:UnspecifiedMatching +OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:20294 semapv:UnspecifiedMatching +OMIM:617470 USPL1 skos:exactMatch hgnc.symbol:USPL1 semapv:UnspecifiedMatching OMIM:617470 USPL1 skos:exactMatch ncbigene:10208 semapv:UnspecifiedMatching -OMIM:617471 SERPINA12 skos:exactMatch hgnc:SERPINA12 semapv:UnspecifiedMatching +OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:18359 semapv:UnspecifiedMatching +OMIM:617471 SERPINA12 skos:exactMatch hgnc.symbol:SERPINA12 semapv:UnspecifiedMatching OMIM:617471 SERPINA12 skos:exactMatch ncbigene:145264 semapv:UnspecifiedMatching -OMIM:617472 TNN skos:exactMatch hgnc:TNN semapv:UnspecifiedMatching +OMIM:617472 TNN skos:exactMatch hgnc.symbol:22942 semapv:UnspecifiedMatching +OMIM:617472 TNN skos:exactMatch hgnc.symbol:TNN semapv:UnspecifiedMatching OMIM:617472 TNN skos:exactMatch ncbigene:63923 semapv:UnspecifiedMatching -OMIM:617473 ATP5L skos:exactMatch hgnc:ATP5MG semapv:UnspecifiedMatching +OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:14247 semapv:UnspecifiedMatching +OMIM:617473 ATP5L skos:exactMatch hgnc.symbol:ATP5MG semapv:UnspecifiedMatching OMIM:617473 ATP5L skos:exactMatch ncbigene:10632 semapv:UnspecifiedMatching -OMIM:617474 ZNF609 skos:exactMatch hgnc:ZNF609 semapv:UnspecifiedMatching +OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:29003 semapv:UnspecifiedMatching +OMIM:617474 ZNF609 skos:exactMatch hgnc.symbol:ZNF609 semapv:UnspecifiedMatching OMIM:617474 ZNF609 skos:exactMatch ncbigene:23060 semapv:UnspecifiedMatching +OMIM:617475 specific granule deficiency 2 skos:exactMatch Orphanet:169142 semapv:UnspecifiedMatching OMIM:617475 specific granule deficiency 2 skos:exactMatch UMLS:C4479548 semapv:UnspecifiedMatching -OMIM:617475 specific granule deficiency 2 skos:exactMatch orphanet.ordo:169142 semapv:UnspecifiedMatching -OMIM:617476 CNKSR3 skos:exactMatch hgnc:CNKSR3 semapv:UnspecifiedMatching +OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:23034 semapv:UnspecifiedMatching +OMIM:617476 CNKSR3 skos:exactMatch hgnc.symbol:CNKSR3 semapv:UnspecifiedMatching OMIM:617476 CNKSR3 skos:exactMatch ncbigene:154043 semapv:UnspecifiedMatching -OMIM:617477 ZNF324 skos:exactMatch hgnc:ZNF324 semapv:UnspecifiedMatching +OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:14096 semapv:UnspecifiedMatching +OMIM:617477 ZNF324 skos:exactMatch hgnc.symbol:ZNF324 semapv:UnspecifiedMatching OMIM:617477 ZNF324 skos:exactMatch ncbigene:25799 semapv:UnspecifiedMatching -OMIM:617479 SSUH2 skos:exactMatch hgnc:SSUH2 semapv:UnspecifiedMatching +OMIM:617479 SSUH2 skos:exactMatch hgnc.symbol:24809 semapv:UnspecifiedMatching +OMIM:617479 SSUH2 skos:exactMatch hgnc.symbol:SSUH2 semapv:UnspecifiedMatching OMIM:617479 SSUH2 skos:exactMatch ncbigene:51066 semapv:UnspecifiedMatching OMIM:617480 46,xx sex reversal 4 skos:exactMatch UMLS:C4479552 semapv:UnspecifiedMatching -OMIM:617482 TP53TG3 skos:exactMatch hgnc:TP53TG3 semapv:UnspecifiedMatching +OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:30759 semapv:UnspecifiedMatching +OMIM:617482 TP53TG3 skos:exactMatch hgnc.symbol:TP53TG3 semapv:UnspecifiedMatching OMIM:617482 TP53TG3 skos:exactMatch ncbigene:24150 semapv:UnspecifiedMatching -OMIM:617483 CNIH4 skos:exactMatch hgnc:CNIH4 semapv:UnspecifiedMatching +OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:25013 semapv:UnspecifiedMatching +OMIM:617483 CNIH4 skos:exactMatch hgnc.symbol:CNIH4 semapv:UnspecifiedMatching OMIM:617483 CNIH4 skos:exactMatch ncbigene:29097 semapv:UnspecifiedMatching -OMIM:617484 GTSF1 skos:exactMatch hgnc:GTSF1 semapv:UnspecifiedMatching +OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:26565 semapv:UnspecifiedMatching +OMIM:617484 GTSF1 skos:exactMatch hgnc.symbol:GTSF1 semapv:UnspecifiedMatching OMIM:617484 GTSF1 skos:exactMatch ncbigene:121355 semapv:UnspecifiedMatching -OMIM:617485 WDFY3 skos:exactMatch hgnc:WDFY3 semapv:UnspecifiedMatching +OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:20751 semapv:UnspecifiedMatching +OMIM:617485 WDFY3 skos:exactMatch hgnc.symbol:WDFY3 semapv:UnspecifiedMatching OMIM:617485 WDFY3 skos:exactMatch ncbigene:23001 semapv:UnspecifiedMatching -OMIM:617486 GPATCH3 skos:exactMatch hgnc:GPATCH3 semapv:UnspecifiedMatching +OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:25720 semapv:UnspecifiedMatching +OMIM:617486 GPATCH3 skos:exactMatch hgnc.symbol:GPATCH3 semapv:UnspecifiedMatching OMIM:617486 GPATCH3 skos:exactMatch ncbigene:63906 semapv:UnspecifiedMatching -OMIM:617487 DNAJB14 skos:exactMatch hgnc:DNAJB14 semapv:UnspecifiedMatching +OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:25881 semapv:UnspecifiedMatching +OMIM:617487 DNAJB14 skos:exactMatch hgnc.symbol:DNAJB14 semapv:UnspecifiedMatching OMIM:617487 DNAJB14 skos:exactMatch ncbigene:79982 semapv:UnspecifiedMatching -OMIM:617488 RPUSD4 skos:exactMatch hgnc:RPUSD4 semapv:UnspecifiedMatching +OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:25898 semapv:UnspecifiedMatching +OMIM:617488 RPUSD4 skos:exactMatch hgnc.symbol:RPUSD4 semapv:UnspecifiedMatching OMIM:617488 RPUSD4 skos:exactMatch ncbigene:84881 semapv:UnspecifiedMatching -OMIM:617489 LINC00305 skos:exactMatch hgnc:LINC00305 semapv:UnspecifiedMatching +OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:28597 semapv:UnspecifiedMatching +OMIM:617489 LINC00305 skos:exactMatch hgnc.symbol:LINC00305 semapv:UnspecifiedMatching OMIM:617489 LINC00305 skos:exactMatch ncbigene:221241 semapv:UnspecifiedMatching -OMIM:617490 CATSPERD skos:exactMatch hgnc:CATSPERD semapv:UnspecifiedMatching +OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:28598 semapv:UnspecifiedMatching +OMIM:617490 CATSPERD skos:exactMatch hgnc.symbol:CATSPERD semapv:UnspecifiedMatching OMIM:617490 CATSPERD skos:exactMatch ncbigene:257062 semapv:UnspecifiedMatching OMIM:617491 NSUN3 skos:exactMatch UMLS:C1538490 semapv:UnspecifiedMatching OMIM:617491 NSUN3 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching -OMIM:617491 NSUN3 skos:exactMatch hgnc:NSUN3 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:26208 semapv:UnspecifiedMatching +OMIM:617491 NSUN3 skos:exactMatch hgnc.symbol:NSUN3 semapv:UnspecifiedMatching OMIM:617491 NSUN3 skos:exactMatch ncbigene:63899 semapv:UnspecifiedMatching -OMIM:617492 OLFM2 skos:exactMatch hgnc:OLFM2 semapv:UnspecifiedMatching +OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:17189 semapv:UnspecifiedMatching +OMIM:617492 OLFM2 skos:exactMatch hgnc.symbol:OLFM2 semapv:UnspecifiedMatching OMIM:617492 OLFM2 skos:exactMatch ncbigene:93145 semapv:UnspecifiedMatching +OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch UMLS:C4479569 semapv:UnspecifiedMatching -OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:617494 EML2 skos:exactMatch hgnc:EML2 semapv:UnspecifiedMatching +OMIM:617494 EML2 skos:exactMatch hgnc.symbol:18035 semapv:UnspecifiedMatching +OMIM:617494 EML2 skos:exactMatch hgnc.symbol:EML2 semapv:UnspecifiedMatching OMIM:617494 EML2 skos:exactMatch ncbigene:24139 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch hgnc:TAFA1 semapv:UnspecifiedMatching +OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:21587 semapv:UnspecifiedMatching +OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:TAFA1 semapv:UnspecifiedMatching OMIM:617495 FAM19A1 skos:exactMatch ncbigene:407738 semapv:UnspecifiedMatching -OMIM:617496 FAM19A2 skos:exactMatch hgnc:TAFA2 semapv:UnspecifiedMatching +OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:21589 semapv:UnspecifiedMatching +OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:TAFA2 semapv:UnspecifiedMatching OMIM:617496 FAM19A2 skos:exactMatch ncbigene:338811 semapv:UnspecifiedMatching -OMIM:617497 FAM19A3 skos:exactMatch hgnc:TAFA3 semapv:UnspecifiedMatching +OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:21590 semapv:UnspecifiedMatching +OMIM:617497 FAM19A3 skos:exactMatch hgnc.symbol:TAFA3 semapv:UnspecifiedMatching OMIM:617497 FAM19A3 skos:exactMatch ncbigene:284467 semapv:UnspecifiedMatching -OMIM:617498 FAM19A4 skos:exactMatch hgnc:TAFA4 semapv:UnspecifiedMatching +OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:21591 semapv:UnspecifiedMatching +OMIM:617498 FAM19A4 skos:exactMatch hgnc.symbol:TAFA4 semapv:UnspecifiedMatching OMIM:617498 FAM19A4 skos:exactMatch ncbigene:151647 semapv:UnspecifiedMatching -OMIM:617499 FAM19A5 skos:exactMatch hgnc:TAFA5 semapv:UnspecifiedMatching +OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:21592 semapv:UnspecifiedMatching +OMIM:617499 FAM19A5 skos:exactMatch hgnc.symbol:TAFA5 semapv:UnspecifiedMatching OMIM:617499 FAM19A5 skos:exactMatch ncbigene:25817 semapv:UnspecifiedMatching -OMIM:617500 UCA1 skos:exactMatch hgnc:UCA1 semapv:UnspecifiedMatching +OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:37126 semapv:UnspecifiedMatching +OMIM:617500 UCA1 skos:exactMatch hgnc.symbol:UCA1 semapv:UnspecifiedMatching OMIM:617500 UCA1 skos:exactMatch ncbigene:652995 semapv:UnspecifiedMatching -OMIM:617501 KAT14 skos:exactMatch hgnc:KAT14 semapv:UnspecifiedMatching +OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:15904 semapv:UnspecifiedMatching +OMIM:617501 KAT14 skos:exactMatch hgnc.symbol:KAT14 semapv:UnspecifiedMatching OMIM:617501 KAT14 skos:exactMatch ncbigene:57325 semapv:UnspecifiedMatching OMIM:617502 WDR41 skos:exactMatch UMLS:C1538082 semapv:UnspecifiedMatching -OMIM:617502 WDR41 skos:exactMatch hgnc:WDR41 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:25601 semapv:UnspecifiedMatching +OMIM:617502 WDR41 skos:exactMatch hgnc.symbol:WDR41 semapv:UnspecifiedMatching OMIM:617502 WDR41 skos:exactMatch ncbigene:55255 semapv:UnspecifiedMatching -OMIM:617503 DENND3 skos:exactMatch hgnc:DENND3 semapv:UnspecifiedMatching +OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:29134 semapv:UnspecifiedMatching +OMIM:617503 DENND3 skos:exactMatch hgnc.symbol:DENND3 semapv:UnspecifiedMatching OMIM:617503 DENND3 skos:exactMatch ncbigene:22898 semapv:UnspecifiedMatching -OMIM:617504 SIPA1L1 skos:exactMatch hgnc:SIPA1L1 semapv:UnspecifiedMatching +OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:20284 semapv:UnspecifiedMatching +OMIM:617504 SIPA1L1 skos:exactMatch hgnc.symbol:SIPA1L1 semapv:UnspecifiedMatching OMIM:617504 SIPA1L1 skos:exactMatch ncbigene:26037 semapv:UnspecifiedMatching -OMIM:617505 TRAM1L1 skos:exactMatch hgnc:TRAM1L1 semapv:UnspecifiedMatching +OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:28371 semapv:UnspecifiedMatching +OMIM:617505 TRAM1L1 skos:exactMatch hgnc.symbol:TRAM1L1 semapv:UnspecifiedMatching OMIM:617505 TRAM1L1 skos:exactMatch ncbigene:133022 semapv:UnspecifiedMatching -OMIM:617508 ZNF598 skos:exactMatch hgnc:ZNF598 semapv:UnspecifiedMatching +OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:28079 semapv:UnspecifiedMatching +OMIM:617508 ZNF598 skos:exactMatch hgnc.symbol:ZNF598 semapv:UnspecifiedMatching OMIM:617508 ZNF598 skos:exactMatch ncbigene:90850 semapv:UnspecifiedMatching -OMIM:617509 VWA8 skos:exactMatch hgnc:VWA8 semapv:UnspecifiedMatching +OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:29071 semapv:UnspecifiedMatching +OMIM:617509 VWA8 skos:exactMatch hgnc.symbol:VWA8 semapv:UnspecifiedMatching OMIM:617509 VWA8 skos:exactMatch ncbigene:23078 semapv:UnspecifiedMatching -OMIM:617510 CATSPERE skos:exactMatch hgnc:CATSPERE semapv:UnspecifiedMatching +OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:28491 semapv:UnspecifiedMatching +OMIM:617510 CATSPERE skos:exactMatch hgnc.symbol:CATSPERE semapv:UnspecifiedMatching OMIM:617510 CATSPERE skos:exactMatch ncbigene:257044 semapv:UnspecifiedMatching -OMIM:617511 CATSPERZ skos:exactMatch hgnc:CATSPERZ semapv:UnspecifiedMatching +OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:19231 semapv:UnspecifiedMatching +OMIM:617511 CATSPERZ skos:exactMatch hgnc.symbol:CATSPERZ semapv:UnspecifiedMatching OMIM:617511 CATSPERZ skos:exactMatch ncbigene:25858 semapv:UnspecifiedMatching -OMIM:617512 ZNF318 skos:exactMatch hgnc:ZNF318 semapv:UnspecifiedMatching +OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:13578 semapv:UnspecifiedMatching +OMIM:617512 ZNF318 skos:exactMatch hgnc.symbol:ZNF318 semapv:UnspecifiedMatching OMIM:617512 ZNF318 skos:exactMatch ncbigene:24149 semapv:UnspecifiedMatching -OMIM:617513 OGDHL skos:exactMatch hgnc:OGDHL semapv:UnspecifiedMatching +OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:25590 semapv:UnspecifiedMatching +OMIM:617513 OGDHL skos:exactMatch hgnc.symbol:OGDHL semapv:UnspecifiedMatching OMIM:617513 OGDHL skos:exactMatch ncbigene:55753 semapv:UnspecifiedMatching OMIM:617515 RHBDD1 skos:exactMatch UMLS:C1826822 semapv:UnspecifiedMatching -OMIM:617515 RHBDD1 skos:exactMatch hgnc:RHBDD1 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:23081 semapv:UnspecifiedMatching +OMIM:617515 RHBDD1 skos:exactMatch hgnc.symbol:RHBDD1 semapv:UnspecifiedMatching OMIM:617515 RHBDD1 skos:exactMatch ncbigene:84236 semapv:UnspecifiedMatching -OMIM:617517 RPS6KC1 skos:exactMatch hgnc:RPS6KC1 semapv:UnspecifiedMatching +OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:10439 semapv:UnspecifiedMatching +OMIM:617517 RPS6KC1 skos:exactMatch hgnc.symbol:RPS6KC1 semapv:UnspecifiedMatching OMIM:617517 RPS6KC1 skos:exactMatch ncbigene:26750 semapv:UnspecifiedMatching -OMIM:617518 BSDC1 skos:exactMatch hgnc:BSDC1 semapv:UnspecifiedMatching +OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:25501 semapv:UnspecifiedMatching +OMIM:617518 BSDC1 skos:exactMatch hgnc.symbol:BSDC1 semapv:UnspecifiedMatching OMIM:617518 BSDC1 skos:exactMatch ncbigene:55108 semapv:UnspecifiedMatching -OMIM:617521 YIPF1 skos:exactMatch hgnc:YIPF1 semapv:UnspecifiedMatching +OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:25231 semapv:UnspecifiedMatching +OMIM:617521 YIPF1 skos:exactMatch hgnc.symbol:YIPF1 semapv:UnspecifiedMatching OMIM:617521 YIPF1 skos:exactMatch ncbigene:54432 semapv:UnspecifiedMatching -OMIM:617522 YIPF2 skos:exactMatch hgnc:YIPF2 semapv:UnspecifiedMatching +OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:28476 semapv:UnspecifiedMatching +OMIM:617522 YIPF2 skos:exactMatch hgnc.symbol:YIPF2 semapv:UnspecifiedMatching OMIM:617522 YIPF2 skos:exactMatch ncbigene:78992 semapv:UnspecifiedMatching +OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch Orphanet:521426 semapv:UnspecifiedMatching OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch UMLS:C4479631 semapv:UnspecifiedMatching -OMIM:617527 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:exactMatch orphanet.ordo:521426 semapv:UnspecifiedMatching -OMIM:617528 PSMG3 skos:exactMatch hgnc:PSMG3 semapv:UnspecifiedMatching +OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:22420 semapv:UnspecifiedMatching +OMIM:617528 PSMG3 skos:exactMatch hgnc.symbol:PSMG3 semapv:UnspecifiedMatching OMIM:617528 PSMG3 skos:exactMatch ncbigene:84262 semapv:UnspecifiedMatching -OMIM:617529 FASTKD1 skos:exactMatch hgnc:FASTKD1 semapv:UnspecifiedMatching +OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:26150 semapv:UnspecifiedMatching +OMIM:617529 FASTKD1 skos:exactMatch hgnc.symbol:FASTKD1 semapv:UnspecifiedMatching OMIM:617529 FASTKD1 skos:exactMatch ncbigene:79675 semapv:UnspecifiedMatching -OMIM:617530 FASTKD3 skos:exactMatch hgnc:FASTKD3 semapv:UnspecifiedMatching +OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:28758 semapv:UnspecifiedMatching +OMIM:617530 FASTKD3 skos:exactMatch hgnc.symbol:FASTKD3 semapv:UnspecifiedMatching OMIM:617530 FASTKD3 skos:exactMatch ncbigene:79072 semapv:UnspecifiedMatching -OMIM:617531 COLGALT1 skos:exactMatch hgnc:COLGALT1 semapv:UnspecifiedMatching +OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:26182 semapv:UnspecifiedMatching +OMIM:617531 COLGALT1 skos:exactMatch hgnc.symbol:COLGALT1 semapv:UnspecifiedMatching OMIM:617531 COLGALT1 skos:exactMatch ncbigene:79709 semapv:UnspecifiedMatching -OMIM:617533 COLGALT2 skos:exactMatch hgnc:COLGALT2 semapv:UnspecifiedMatching +OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:16790 semapv:UnspecifiedMatching +OMIM:617533 COLGALT2 skos:exactMatch hgnc.symbol:COLGALT2 semapv:UnspecifiedMatching OMIM:617533 COLGALT2 skos:exactMatch ncbigene:23127 semapv:UnspecifiedMatching -OMIM:617534 YIPF4 skos:exactMatch hgnc:YIPF4 semapv:UnspecifiedMatching +OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:28145 semapv:UnspecifiedMatching +OMIM:617534 YIPF4 skos:exactMatch hgnc.symbol:YIPF4 semapv:UnspecifiedMatching OMIM:617534 YIPF4 skos:exactMatch ncbigene:84272 semapv:UnspecifiedMatching -OMIM:617535 FAIM skos:exactMatch hgnc:FAIM semapv:UnspecifiedMatching +OMIM:617535 FAIM skos:exactMatch hgnc.symbol:18703 semapv:UnspecifiedMatching +OMIM:617535 FAIM skos:exactMatch hgnc.symbol:FAIM semapv:UnspecifiedMatching OMIM:617535 FAIM skos:exactMatch ncbigene:55179 semapv:UnspecifiedMatching -OMIM:617536 BAIAP2L2 skos:exactMatch hgnc:BAIAP2L2 semapv:UnspecifiedMatching +OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:26203 semapv:UnspecifiedMatching +OMIM:617536 BAIAP2L2 skos:exactMatch hgnc.symbol:BAIAP2L2 semapv:UnspecifiedMatching OMIM:617536 BAIAP2L2 skos:exactMatch ncbigene:80115 semapv:UnspecifiedMatching -OMIM:617538 EFL1 skos:exactMatch hgnc:EFL1 semapv:UnspecifiedMatching +OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:25789 semapv:UnspecifiedMatching +OMIM:617538 EFL1 skos:exactMatch hgnc.symbol:EFL1 semapv:UnspecifiedMatching OMIM:617538 EFL1 skos:exactMatch ncbigene:79631 semapv:UnspecifiedMatching OMIM:617539 CLCC1 skos:exactMatch UMLS:C1824741 semapv:UnspecifiedMatching OMIM:617539 CLCC1 skos:exactMatch UMLS:C1835927 semapv:UnspecifiedMatching -OMIM:617539 CLCC1 skos:exactMatch hgnc:CLCC1 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:29675 semapv:UnspecifiedMatching +OMIM:617539 CLCC1 skos:exactMatch hgnc.symbol:CLCC1 semapv:UnspecifiedMatching OMIM:617539 CLCC1 skos:exactMatch ncbigene:23155 semapv:UnspecifiedMatching -OMIM:617541 ANKZF1 skos:exactMatch hgnc:ANKZF1 semapv:UnspecifiedMatching +OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:25527 semapv:UnspecifiedMatching +OMIM:617541 ANKZF1 skos:exactMatch hgnc.symbol:ANKZF1 semapv:UnspecifiedMatching OMIM:617541 ANKZF1 skos:exactMatch ncbigene:55139 semapv:UnspecifiedMatching -OMIM:617543 PCGF3 skos:exactMatch hgnc:PCGF3 semapv:UnspecifiedMatching +OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:10066 semapv:UnspecifiedMatching +OMIM:617543 PCGF3 skos:exactMatch hgnc.symbol:PCGF3 semapv:UnspecifiedMatching OMIM:617543 PCGF3 skos:exactMatch ncbigene:10336 semapv:UnspecifiedMatching -OMIM:617544 LINC00672 skos:exactMatch hgnc:LASP1NB semapv:UnspecifiedMatching +OMIM:617544 LINC00672 skos:exactMatch hgnc.symbol:LASP1NB semapv:UnspecifiedMatching OMIM:617544 LINC00672 skos:exactMatch ncbigene:100505576 semapv:UnspecifiedMatching -OMIM:617545 MCMDC2 skos:exactMatch hgnc:MCMDC2 semapv:UnspecifiedMatching +OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:26368 semapv:UnspecifiedMatching +OMIM:617545 MCMDC2 skos:exactMatch hgnc.symbol:MCMDC2 semapv:UnspecifiedMatching OMIM:617545 MCMDC2 skos:exactMatch ncbigene:157777 semapv:UnspecifiedMatching OMIM:617546 HELT skos:exactMatch UMLS:C2681564 semapv:UnspecifiedMatching -OMIM:617546 HELT skos:exactMatch hgnc:HELT semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch hgnc.symbol:33783 semapv:UnspecifiedMatching +OMIM:617546 HELT skos:exactMatch hgnc.symbol:HELT semapv:UnspecifiedMatching OMIM:617546 HELT skos:exactMatch ncbigene:391723 semapv:UnspecifiedMatching -OMIM:617548 WFDC2 skos:exactMatch hgnc:WFDC2 semapv:UnspecifiedMatching +OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:15939 semapv:UnspecifiedMatching +OMIM:617548 WFDC2 skos:exactMatch hgnc.symbol:WFDC2 semapv:UnspecifiedMatching OMIM:617548 WFDC2 skos:exactMatch ncbigene:10406 semapv:UnspecifiedMatching -OMIM:617549 TP53INP2 skos:exactMatch hgnc:TP53INP2 semapv:UnspecifiedMatching +OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:16104 semapv:UnspecifiedMatching +OMIM:617549 TP53INP2 skos:exactMatch hgnc.symbol:TP53INP2 semapv:UnspecifiedMatching OMIM:617549 TP53INP2 skos:exactMatch ncbigene:58476 semapv:UnspecifiedMatching -OMIM:617550 PSMG4 skos:exactMatch hgnc:PSMG4 semapv:UnspecifiedMatching +OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:21108 semapv:UnspecifiedMatching +OMIM:617550 PSMG4 skos:exactMatch hgnc.symbol:PSMG4 semapv:UnspecifiedMatching OMIM:617550 PSMG4 skos:exactMatch ncbigene:389362 semapv:UnspecifiedMatching -OMIM:617551 SIDT2 skos:exactMatch hgnc:SIDT2 semapv:UnspecifiedMatching +OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:24272 semapv:UnspecifiedMatching +OMIM:617551 SIDT2 skos:exactMatch hgnc.symbol:SIDT2 semapv:UnspecifiedMatching OMIM:617551 SIDT2 skos:exactMatch ncbigene:51092 semapv:UnspecifiedMatching -OMIM:617552 ARHGEF26 skos:exactMatch hgnc:ARHGEF26 semapv:UnspecifiedMatching +OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:24490 semapv:UnspecifiedMatching +OMIM:617552 ARHGEF26 skos:exactMatch hgnc.symbol:ARHGEF26 semapv:UnspecifiedMatching OMIM:617552 ARHGEF26 skos:exactMatch ncbigene:26084 semapv:UnspecifiedMatching -OMIM:617553 FCGBP skos:exactMatch hgnc:FCGBP semapv:UnspecifiedMatching +OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:13572 semapv:UnspecifiedMatching +OMIM:617553 FCGBP skos:exactMatch hgnc.symbol:FCGBP semapv:UnspecifiedMatching OMIM:617553 FCGBP skos:exactMatch ncbigene:8857 semapv:UnspecifiedMatching -OMIM:617554 FGD3 skos:exactMatch hgnc:FGD3 semapv:UnspecifiedMatching +OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:16027 semapv:UnspecifiedMatching +OMIM:617554 FGD3 skos:exactMatch hgnc.symbol:FGD3 semapv:UnspecifiedMatching OMIM:617554 FGD3 skos:exactMatch ncbigene:89846 semapv:UnspecifiedMatching -OMIM:617555 FCHSD1 skos:exactMatch hgnc:FCHSD1 semapv:UnspecifiedMatching +OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:25463 semapv:UnspecifiedMatching +OMIM:617555 FCHSD1 skos:exactMatch hgnc.symbol:FCHSD1 semapv:UnspecifiedMatching OMIM:617555 FCHSD1 skos:exactMatch ncbigene:89848 semapv:UnspecifiedMatching -OMIM:617556 FCHSD2 skos:exactMatch hgnc:FCHSD2 semapv:UnspecifiedMatching +OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:29114 semapv:UnspecifiedMatching +OMIM:617556 FCHSD2 skos:exactMatch hgnc.symbol:FCHSD2 semapv:UnspecifiedMatching OMIM:617556 FCHSD2 skos:exactMatch ncbigene:9873 semapv:UnspecifiedMatching OMIM:617558 CFAP43 skos:exactMatch UMLS:C1538396 semapv:UnspecifiedMatching OMIM:617558 CFAP43 skos:exactMatch UMLS:C4539818 semapv:UnspecifiedMatching OMIM:617558 CFAP43 skos:exactMatch UMLS:C5231392 semapv:UnspecifiedMatching -OMIM:617558 CFAP43 skos:exactMatch hgnc:CFAP43 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:26684 semapv:UnspecifiedMatching +OMIM:617558 CFAP43 skos:exactMatch hgnc.symbol:CFAP43 semapv:UnspecifiedMatching OMIM:617558 CFAP43 skos:exactMatch ncbigene:80217 semapv:UnspecifiedMatching -OMIM:617559 CFAP44 skos:exactMatch hgnc:CFAP44 semapv:UnspecifiedMatching +OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:25631 semapv:UnspecifiedMatching +OMIM:617559 CFAP44 skos:exactMatch hgnc.symbol:CFAP44 semapv:UnspecifiedMatching OMIM:617559 CFAP44 skos:exactMatch ncbigene:55779 semapv:UnspecifiedMatching +OMIM:617561 cohen-gibson syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching OMIM:617561 cohen-gibson syndrome skos:exactMatch UMLS:C4479654 semapv:UnspecifiedMatching -OMIM:617561 cohen-gibson syndrome skos:exactMatch orphanet.ordo:3447 semapv:UnspecifiedMatching +OMIM:617565 perrault syndrome 6 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching OMIM:617565 perrault syndrome 6 skos:exactMatch UMLS:C4479656 semapv:UnspecifiedMatching -OMIM:617565 perrault syndrome 6 skos:exactMatch orphanet.ordo:2855 semapv:UnspecifiedMatching -OMIM:617566 ZNF568 skos:exactMatch hgnc:ZNF568 semapv:UnspecifiedMatching +OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:25392 semapv:UnspecifiedMatching +OMIM:617566 ZNF568 skos:exactMatch hgnc.symbol:ZNF568 semapv:UnspecifiedMatching OMIM:617566 ZNF568 skos:exactMatch ncbigene:374900 semapv:UnspecifiedMatching -OMIM:617567 TPD52L3 skos:exactMatch hgnc:TPD52L3 semapv:UnspecifiedMatching +OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:23382 semapv:UnspecifiedMatching +OMIM:617567 TPD52L3 skos:exactMatch hgnc.symbol:TPD52L3 semapv:UnspecifiedMatching OMIM:617567 TPD52L3 skos:exactMatch ncbigene:89882 semapv:UnspecifiedMatching -OMIM:617568 USF3 skos:exactMatch hgnc:USF3 semapv:UnspecifiedMatching +OMIM:617568 USF3 skos:exactMatch hgnc.symbol:30494 semapv:UnspecifiedMatching +OMIM:617568 USF3 skos:exactMatch hgnc.symbol:USF3 semapv:UnspecifiedMatching OMIM:617568 USF3 skos:exactMatch ncbigene:205717 semapv:UnspecifiedMatching -OMIM:617569 KIF15 skos:exactMatch hgnc:KIF15 semapv:UnspecifiedMatching +OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:17273 semapv:UnspecifiedMatching +OMIM:617569 KIF15 skos:exactMatch hgnc.symbol:KIF15 semapv:UnspecifiedMatching OMIM:617569 KIF15 skos:exactMatch ncbigene:56992 semapv:UnspecifiedMatching -OMIM:617570 DZIP1L skos:exactMatch hgnc:DZIP1L semapv:UnspecifiedMatching +OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:26551 semapv:UnspecifiedMatching +OMIM:617570 DZIP1L skos:exactMatch hgnc.symbol:DZIP1L semapv:UnspecifiedMatching OMIM:617570 DZIP1L skos:exactMatch ncbigene:199221 semapv:UnspecifiedMatching -OMIM:617573 CLEC12B skos:exactMatch hgnc:CLEC12B semapv:UnspecifiedMatching +OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:31966 semapv:UnspecifiedMatching +OMIM:617573 CLEC12B skos:exactMatch hgnc.symbol:CLEC12B semapv:UnspecifiedMatching OMIM:617573 CLEC12B skos:exactMatch ncbigene:387837 semapv:UnspecifiedMatching OMIM:617578 FERD3L skos:exactMatch UMLS:C1424474 semapv:UnspecifiedMatching -OMIM:617578 FERD3L skos:exactMatch hgnc:FERD3L semapv:UnspecifiedMatching +OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:16660 semapv:UnspecifiedMatching +OMIM:617578 FERD3L skos:exactMatch hgnc.symbol:FERD3L semapv:UnspecifiedMatching OMIM:617578 FERD3L skos:exactMatch ncbigene:222894 semapv:UnspecifiedMatching -OMIM:617579 CLDN10 skos:exactMatch hgnc:CLDN10 semapv:UnspecifiedMatching +OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:2033 semapv:UnspecifiedMatching +OMIM:617579 CLDN10 skos:exactMatch hgnc.symbol:CLDN10 semapv:UnspecifiedMatching OMIM:617579 CLDN10 skos:exactMatch ncbigene:9071 semapv:UnspecifiedMatching -OMIM:617580 TSPAN16 skos:exactMatch hgnc:TSPAN16 semapv:UnspecifiedMatching +OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:30725 semapv:UnspecifiedMatching +OMIM:617580 TSPAN16 skos:exactMatch hgnc.symbol:TSPAN16 semapv:UnspecifiedMatching OMIM:617580 TSPAN16 skos:exactMatch ncbigene:26526 semapv:UnspecifiedMatching -OMIM:617581 C2CD2 skos:exactMatch hgnc:C2CD2 semapv:UnspecifiedMatching +OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:1266 semapv:UnspecifiedMatching +OMIM:617581 C2CD2 skos:exactMatch hgnc.symbol:C2CD2 semapv:UnspecifiedMatching OMIM:617581 C2CD2 skos:exactMatch ncbigene:25966 semapv:UnspecifiedMatching -OMIM:617582 C2CD2L skos:exactMatch hgnc:C2CD2L semapv:UnspecifiedMatching +OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:29000 semapv:UnspecifiedMatching +OMIM:617582 C2CD2L skos:exactMatch hgnc.symbol:C2CD2L semapv:UnspecifiedMatching OMIM:617582 C2CD2L skos:exactMatch ncbigene:9854 semapv:UnspecifiedMatching -OMIM:617583 SRXN1 skos:exactMatch hgnc:SRXN1 semapv:UnspecifiedMatching +OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:16132 semapv:UnspecifiedMatching +OMIM:617583 SRXN1 skos:exactMatch hgnc.symbol:SRXN1 semapv:UnspecifiedMatching OMIM:617583 SRXN1 skos:exactMatch ncbigene:140809 semapv:UnspecifiedMatching -OMIM:617586 FARP2 skos:exactMatch hgnc:FARP2 semapv:UnspecifiedMatching +OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:16460 semapv:UnspecifiedMatching +OMIM:617586 FARP2 skos:exactMatch hgnc.symbol:FARP2 semapv:UnspecifiedMatching OMIM:617586 FARP2 skos:exactMatch ncbigene:9855 semapv:UnspecifiedMatching -OMIM:617587 SPRR2D skos:exactMatch hgnc:SPRR2D semapv:UnspecifiedMatching +OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:11264 semapv:UnspecifiedMatching +OMIM:617587 SPRR2D skos:exactMatch hgnc.symbol:SPRR2D semapv:UnspecifiedMatching OMIM:617587 SPRR2D skos:exactMatch ncbigene:6703 semapv:UnspecifiedMatching -OMIM:617588 SPRR2E skos:exactMatch hgnc:SPRR2E semapv:UnspecifiedMatching +OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:11265 semapv:UnspecifiedMatching +OMIM:617588 SPRR2E skos:exactMatch hgnc.symbol:SPRR2E semapv:UnspecifiedMatching OMIM:617588 SPRR2E skos:exactMatch ncbigene:6704 semapv:UnspecifiedMatching -OMIM:617589 SPRR2F skos:exactMatch hgnc:SPRR2F semapv:UnspecifiedMatching +OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:11266 semapv:UnspecifiedMatching +OMIM:617589 SPRR2F skos:exactMatch hgnc.symbol:SPRR2F semapv:UnspecifiedMatching OMIM:617589 SPRR2F skos:exactMatch ncbigene:6705 semapv:UnspecifiedMatching -OMIM:617590 SPRR2G skos:exactMatch hgnc:SPRR2G semapv:UnspecifiedMatching +OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:11267 semapv:UnspecifiedMatching +OMIM:617590 SPRR2G skos:exactMatch hgnc.symbol:SPRR2G semapv:UnspecifiedMatching OMIM:617590 SPRR2G skos:exactMatch ncbigene:6706 semapv:UnspecifiedMatching OMIM:617591 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch UMLS:C4747850 semapv:UnspecifiedMatching OMIM:617594 JHY skos:exactMatch UMLS:C1824329 semapv:UnspecifiedMatching -OMIM:617594 JHY skos:exactMatch hgnc:JHY semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch hgnc.symbol:26288 semapv:UnspecifiedMatching +OMIM:617594 JHY skos:exactMatch hgnc.symbol:JHY semapv:UnspecifiedMatching OMIM:617594 JHY skos:exactMatch ncbigene:79864 semapv:UnspecifiedMatching +OMIM:617595 birk-landau-perez syndrome skos:exactMatch Orphanet:505242 semapv:UnspecifiedMatching OMIM:617595 birk-landau-perez syndrome skos:exactMatch UMLS:C4539828 semapv:UnspecifiedMatching -OMIM:617595 birk-landau-perez syndrome skos:exactMatch orphanet.ordo:505242 semapv:UnspecifiedMatching -OMIM:617597 RETSAT skos:exactMatch hgnc:RETSAT semapv:UnspecifiedMatching +OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:25991 semapv:UnspecifiedMatching +OMIM:617597 RETSAT skos:exactMatch hgnc.symbol:RETSAT semapv:UnspecifiedMatching OMIM:617597 RETSAT skos:exactMatch ncbigene:54884 semapv:UnspecifiedMatching +OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch UMLS:C4539843 semapv:UnspecifiedMatching -OMIM:617599 developmental and epileptic encephalopathy 55 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching OMIM:617602 congenital heart defects and skeletal malformations syndrome skos:exactMatch UMLS:C4539857 semapv:UnspecifiedMatching -OMIM:617603 RBM24 skos:exactMatch hgnc:RBM24 semapv:UnspecifiedMatching +OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:21539 semapv:UnspecifiedMatching +OMIM:617603 RBM24 skos:exactMatch hgnc.symbol:RBM24 semapv:UnspecifiedMatching OMIM:617603 RBM24 skos:exactMatch ncbigene:221662 semapv:UnspecifiedMatching -OMIM:617608 ALPK3 skos:exactMatch hgnc:ALPK3 semapv:UnspecifiedMatching +OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:17574 semapv:UnspecifiedMatching +OMIM:617608 ALPK3 skos:exactMatch hgnc.symbol:ALPK3 semapv:UnspecifiedMatching OMIM:617608 ALPK3 skos:exactMatch ncbigene:57538 semapv:UnspecifiedMatching -OMIM:617611 PIMREG skos:exactMatch hgnc:PIMREG semapv:UnspecifiedMatching +OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:25483 semapv:UnspecifiedMatching +OMIM:617611 PIMREG skos:exactMatch hgnc.symbol:PIMREG semapv:UnspecifiedMatching OMIM:617611 PIMREG skos:exactMatch ncbigene:54478 semapv:UnspecifiedMatching -OMIM:617612 ARMC9 skos:exactMatch hgnc:ARMC9 semapv:UnspecifiedMatching +OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:20730 semapv:UnspecifiedMatching +OMIM:617612 ARMC9 skos:exactMatch hgnc.symbol:ARMC9 semapv:UnspecifiedMatching OMIM:617612 ARMC9 skos:exactMatch ncbigene:80210 semapv:UnspecifiedMatching OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch UMLS:C4539919 semapv:UnspecifiedMatching -OMIM:617614 SPOUT1 skos:exactMatch hgnc:SPOUT1 semapv:UnspecifiedMatching +OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:26933 semapv:UnspecifiedMatching +OMIM:617614 SPOUT1 skos:exactMatch hgnc.symbol:SPOUT1 semapv:UnspecifiedMatching OMIM:617614 SPOUT1 skos:exactMatch ncbigene:51490 semapv:UnspecifiedMatching -OMIM:617615 TMEM258 skos:exactMatch hgnc:TMEM258 semapv:UnspecifiedMatching +OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:1164 semapv:UnspecifiedMatching +OMIM:617615 TMEM258 skos:exactMatch hgnc.symbol:TMEM258 semapv:UnspecifiedMatching OMIM:617615 TMEM258 skos:exactMatch ncbigene:746 semapv:UnspecifiedMatching -OMIM:617617 SPRY4IT1 skos:exactMatch hgnc:SPRY4-IT1 semapv:UnspecifiedMatching +OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:42394 semapv:UnspecifiedMatching +OMIM:617617 SPRY4IT1 skos:exactMatch hgnc.symbol:SPRY4-IT1 semapv:UnspecifiedMatching OMIM:617617 SPRY4IT1 skos:exactMatch ncbigene:100642175 semapv:UnspecifiedMatching -OMIM:617618 TOGARAM1 skos:exactMatch hgnc:TOGARAM1 semapv:UnspecifiedMatching +OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:19959 semapv:UnspecifiedMatching +OMIM:617618 TOGARAM1 skos:exactMatch hgnc.symbol:TOGARAM1 semapv:UnspecifiedMatching OMIM:617618 TOGARAM1 skos:exactMatch ncbigene:23116 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch UMLS:C1826310 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540596 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch UMLS:C4540597 semapv:UnspecifiedMatching -OMIM:617619 MSTO1 skos:exactMatch hgnc:MSTO1 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:29678 semapv:UnspecifiedMatching +OMIM:617619 MSTO1 skos:exactMatch hgnc.symbol:MSTO1 semapv:UnspecifiedMatching OMIM:617619 MSTO1 skos:exactMatch ncbigene:55154 semapv:UnspecifiedMatching -OMIM:617620 LRRC3 skos:exactMatch hgnc:LRRC3 semapv:UnspecifiedMatching +OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:14965 semapv:UnspecifiedMatching +OMIM:617620 LRRC3 skos:exactMatch hgnc.symbol:LRRC3 semapv:UnspecifiedMatching OMIM:617620 LRRC3 skos:exactMatch ncbigene:81543 semapv:UnspecifiedMatching OMIM:617621 PAXBP1 skos:exactMatch UMLS:C1422075 semapv:UnspecifiedMatching OMIM:617621 PAXBP1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:617621 PAXBP1 skos:exactMatch hgnc:PAXBP1 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:13579 semapv:UnspecifiedMatching +OMIM:617621 PAXBP1 skos:exactMatch hgnc.symbol:PAXBP1 semapv:UnspecifiedMatching OMIM:617621 PAXBP1 skos:exactMatch ncbigene:94104 semapv:UnspecifiedMatching -OMIM:617623 SPDYE1 skos:exactMatch hgnc:SPDYE1 semapv:UnspecifiedMatching +OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:16408 semapv:UnspecifiedMatching +OMIM:617623 SPDYE1 skos:exactMatch hgnc.symbol:SPDYE1 semapv:UnspecifiedMatching OMIM:617623 SPDYE1 skos:exactMatch ncbigene:285955 semapv:UnspecifiedMatching -OMIM:617624 SPDYE2 skos:exactMatch hgnc:SPDYE2 semapv:UnspecifiedMatching +OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:33841 semapv:UnspecifiedMatching +OMIM:617624 SPDYE2 skos:exactMatch hgnc.symbol:SPDYE2 semapv:UnspecifiedMatching OMIM:617624 SPDYE2 skos:exactMatch ncbigene:441273 semapv:UnspecifiedMatching -OMIM:617625 SPDYE3 skos:exactMatch hgnc:SPDYE3 semapv:UnspecifiedMatching +OMIM:617625 SPDYE3 skos:exactMatch hgnc.symbol:35462 semapv:UnspecifiedMatching +OMIM:617625 SPDYE3 skos:exactMatch hgnc.symbol:SPDYE3 semapv:UnspecifiedMatching OMIM:617625 SPDYE3 skos:exactMatch ncbigene:441272 semapv:UnspecifiedMatching -OMIM:617627 SPAAR skos:exactMatch hgnc:SPAAR semapv:UnspecifiedMatching +OMIM:617627 SPAAR skos:exactMatch hgnc.symbol:27244 semapv:UnspecifiedMatching +OMIM:617627 SPAAR skos:exactMatch hgnc.symbol:SPAAR semapv:UnspecifiedMatching OMIM:617627 SPAAR skos:exactMatch ncbigene:158376 semapv:UnspecifiedMatching -OMIM:617628 SPDYE4 skos:exactMatch hgnc:SPDYE4 semapv:UnspecifiedMatching +OMIM:617628 SPDYE4 skos:exactMatch hgnc.symbol:35463 semapv:UnspecifiedMatching +OMIM:617628 SPDYE4 skos:exactMatch hgnc.symbol:SPDYE4 semapv:UnspecifiedMatching OMIM:617628 SPDYE4 skos:exactMatch ncbigene:388333 semapv:UnspecifiedMatching -OMIM:617630 GPR37L1 skos:exactMatch hgnc:GPR37L1 semapv:UnspecifiedMatching +OMIM:617630 GPR37L1 skos:exactMatch hgnc.symbol:14923 semapv:UnspecifiedMatching +OMIM:617630 GPR37L1 skos:exactMatch hgnc.symbol:GPR37L1 semapv:UnspecifiedMatching OMIM:617630 GPR37L1 skos:exactMatch ncbigene:9283 semapv:UnspecifiedMatching OMIM:617631 IQCE skos:exactMatch UMLS:C1537413 semapv:UnspecifiedMatching OMIM:617631 IQCE skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching -OMIM:617631 IQCE skos:exactMatch hgnc:IQCE semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch hgnc.symbol:29171 semapv:UnspecifiedMatching +OMIM:617631 IQCE skos:exactMatch hgnc.symbol:IQCE semapv:UnspecifiedMatching OMIM:617631 IQCE skos:exactMatch ncbigene:23288 semapv:UnspecifiedMatching -OMIM:617632 EFCAB7 skos:exactMatch hgnc:EFCAB7 semapv:UnspecifiedMatching +OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:29379 semapv:UnspecifiedMatching +OMIM:617632 EFCAB7 skos:exactMatch hgnc.symbol:EFCAB7 semapv:UnspecifiedMatching OMIM:617632 EFCAB7 skos:exactMatch ncbigene:84455 semapv:UnspecifiedMatching -OMIM:617634 CCER2 skos:exactMatch hgnc:CCER2 semapv:UnspecifiedMatching +OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:44662 semapv:UnspecifiedMatching +OMIM:617634 CCER2 skos:exactMatch hgnc.symbol:CCER2 semapv:UnspecifiedMatching OMIM:617634 CCER2 skos:exactMatch ncbigene:643669 semapv:UnspecifiedMatching -OMIM:617636 CMKLR2AS skos:exactMatch hgnc:CMKLR2-AS semapv:UnspecifiedMatching +OMIM:617636 CMKLR2AS skos:exactMatch hgnc.symbol:48602 semapv:UnspecifiedMatching +OMIM:617636 CMKLR2AS skos:exactMatch hgnc.symbol:CMKLR2-AS semapv:UnspecifiedMatching OMIM:617636 CMKLR2AS skos:exactMatch ncbigene:101669764 semapv:UnspecifiedMatching -OMIM:617640 ST7L skos:exactMatch hgnc:ST7L semapv:UnspecifiedMatching +OMIM:617640 ST7L skos:exactMatch hgnc.symbol:18441 semapv:UnspecifiedMatching +OMIM:617640 ST7L skos:exactMatch hgnc.symbol:ST7L semapv:UnspecifiedMatching OMIM:617640 ST7L skos:exactMatch ncbigene:54879 semapv:UnspecifiedMatching OMIM:617642 polydactyly, postaxial, iia a7 skos:exactMatch UMLS:C4539976 semapv:UnspecifiedMatching -OMIM:617645 KBTBD4 skos:exactMatch hgnc:KBTBD4 semapv:UnspecifiedMatching +OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:23761 semapv:UnspecifiedMatching +OMIM:617645 KBTBD4 skos:exactMatch hgnc.symbol:KBTBD4 semapv:UnspecifiedMatching OMIM:617645 KBTBD4 skos:exactMatch ncbigene:55709 semapv:UnspecifiedMatching -OMIM:617646 BAHCC1 skos:exactMatch hgnc:BAHCC1 semapv:UnspecifiedMatching +OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:29279 semapv:UnspecifiedMatching +OMIM:617646 BAHCC1 skos:exactMatch hgnc.symbol:BAHCC1 semapv:UnspecifiedMatching OMIM:617646 BAHCC1 skos:exactMatch ncbigene:57597 semapv:UnspecifiedMatching -OMIM:617647 PCAT18 skos:exactMatch hgnc:PCAT18 semapv:UnspecifiedMatching +OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:49211 semapv:UnspecifiedMatching +OMIM:617647 PCAT18 skos:exactMatch hgnc.symbol:PCAT18 semapv:UnspecifiedMatching OMIM:617647 PCAT18 skos:exactMatch ncbigene:728606 semapv:UnspecifiedMatching -OMIM:617648 BMP2K skos:exactMatch hgnc:BMP2K semapv:UnspecifiedMatching +OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:18041 semapv:UnspecifiedMatching +OMIM:617648 BMP2K skos:exactMatch hgnc.symbol:BMP2K semapv:UnspecifiedMatching OMIM:617648 BMP2K skos:exactMatch ncbigene:55589 semapv:UnspecifiedMatching OMIM:617649 UBE2O skos:exactMatch UMLS:C1823570 semapv:UnspecifiedMatching -OMIM:617649 UBE2O skos:exactMatch hgnc:UBE2O semapv:UnspecifiedMatching +OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:29554 semapv:UnspecifiedMatching +OMIM:617649 UBE2O skos:exactMatch hgnc.symbol:UBE2O semapv:UnspecifiedMatching OMIM:617649 UBE2O skos:exactMatch ncbigene:63893 semapv:UnspecifiedMatching -OMIM:617650 PACERR skos:exactMatch hgnc:PACERR semapv:UnspecifiedMatching +OMIM:617650 PACERR skos:exactMatch hgnc.symbol:50552 semapv:UnspecifiedMatching +OMIM:617650 PACERR skos:exactMatch hgnc.symbol:PACERR semapv:UnspecifiedMatching OMIM:617650 PACERR skos:exactMatch ncbigene:103752588 semapv:UnspecifiedMatching -OMIM:617652 MOB3B skos:exactMatch hgnc:MOB3B semapv:UnspecifiedMatching +OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:23825 semapv:UnspecifiedMatching +OMIM:617652 MOB3B skos:exactMatch hgnc.symbol:MOB3B semapv:UnspecifiedMatching OMIM:617652 MOB3B skos:exactMatch ncbigene:79817 semapv:UnspecifiedMatching -OMIM:617653 EQTN skos:exactMatch hgnc:EQTN semapv:UnspecifiedMatching +OMIM:617653 EQTN skos:exactMatch hgnc.symbol:1359 semapv:UnspecifiedMatching +OMIM:617653 EQTN skos:exactMatch hgnc.symbol:EQTN semapv:UnspecifiedMatching OMIM:617653 EQTN skos:exactMatch ncbigene:54586 semapv:UnspecifiedMatching OMIM:617655 PCNX1 skos:exactMatch UMLS:C1426376 semapv:UnspecifiedMatching -OMIM:617655 PCNX1 skos:exactMatch hgnc:PCNX1 semapv:UnspecifiedMatching +OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:19740 semapv:UnspecifiedMatching +OMIM:617655 PCNX1 skos:exactMatch hgnc.symbol:PCNX1 semapv:UnspecifiedMatching OMIM:617655 PCNX1 skos:exactMatch ncbigene:22990 semapv:UnspecifiedMatching OMIM:617656 PCNX2 skos:exactMatch UMLS:C1418381 semapv:UnspecifiedMatching -OMIM:617656 PCNX2 skos:exactMatch hgnc:PCNX2 semapv:UnspecifiedMatching +OMIM:617656 PCNX2 skos:exactMatch hgnc.symbol:8736 semapv:UnspecifiedMatching +OMIM:617656 PCNX2 skos:exactMatch hgnc.symbol:PCNX2 semapv:UnspecifiedMatching OMIM:617656 PCNX2 skos:exactMatch ncbigene:80003 semapv:UnspecifiedMatching OMIM:617657 PCNX3 skos:exactMatch UMLS:C1425765 semapv:UnspecifiedMatching -OMIM:617657 PCNX3 skos:exactMatch hgnc:PCNX3 semapv:UnspecifiedMatching +OMIM:617657 PCNX3 skos:exactMatch hgnc.symbol:18760 semapv:UnspecifiedMatching +OMIM:617657 PCNX3 skos:exactMatch hgnc.symbol:PCNX3 semapv:UnspecifiedMatching OMIM:617657 PCNX3 skos:exactMatch ncbigene:399909 semapv:UnspecifiedMatching -OMIM:617658 SQOR skos:exactMatch hgnc:SQOR semapv:UnspecifiedMatching +OMIM:617658 SQOR skos:exactMatch hgnc.symbol:20390 semapv:UnspecifiedMatching +OMIM:617658 SQOR skos:exactMatch hgnc.symbol:SQOR semapv:UnspecifiedMatching OMIM:617658 SQOR skos:exactMatch ncbigene:58472 semapv:UnspecifiedMatching -OMIM:617659 LIPT2 skos:exactMatch hgnc:LIPT2 semapv:UnspecifiedMatching +OMIM:617659 LIPT2 skos:exactMatch hgnc.symbol:37216 semapv:UnspecifiedMatching +OMIM:617659 LIPT2 skos:exactMatch hgnc.symbol:LIPT2 semapv:UnspecifiedMatching OMIM:617659 LIPT2 skos:exactMatch ncbigene:387787 semapv:UnspecifiedMatching +OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch UMLS:C4540004 semapv:UnspecifiedMatching -OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 skos:exactMatch orphanet.ordo:521438 semapv:UnspecifiedMatching OMIM:617665 developmental and epileptic encephalopathy 56 skos:exactMatch UMLS:C4540034 semapv:UnspecifiedMatching +OMIM:617667 fraser syndrome 3 skos:exactMatch Orphanet:2052 semapv:UnspecifiedMatching OMIM:617667 fraser syndrome 3 skos:exactMatch UMLS:C4540040 semapv:UnspecifiedMatching -OMIM:617667 fraser syndrome 3 skos:exactMatch orphanet.ordo:2052 semapv:UnspecifiedMatching OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:exactMatch UMLS:C4540052 semapv:UnspecifiedMatching -OMIM:617670 MEIOB skos:exactMatch hgnc:MEIOB semapv:UnspecifiedMatching +OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:28569 semapv:UnspecifiedMatching +OMIM:617670 MEIOB skos:exactMatch hgnc.symbol:MEIOB semapv:UnspecifiedMatching OMIM:617670 MEIOB skos:exactMatch ncbigene:254528 semapv:UnspecifiedMatching -OMIM:617673 SPATA22 skos:exactMatch hgnc:SPATA22 semapv:UnspecifiedMatching +OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:30705 semapv:UnspecifiedMatching +OMIM:617673 SPATA22 skos:exactMatch hgnc.symbol:SPATA22 semapv:UnspecifiedMatching OMIM:617673 SPATA22 skos:exactMatch ncbigene:84690 semapv:UnspecifiedMatching -OMIM:617674 SERP1 skos:exactMatch hgnc:SERP1 semapv:UnspecifiedMatching +OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:10759 semapv:UnspecifiedMatching +OMIM:617674 SERP1 skos:exactMatch hgnc.symbol:SERP1 semapv:UnspecifiedMatching OMIM:617674 SERP1 skos:exactMatch ncbigene:27230 semapv:UnspecifiedMatching +OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch Orphanet:502423 semapv:UnspecifiedMatching OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch UMLS:C4540096 semapv:UnspecifiedMatching -OMIM:617675 myopathy, mitochondrial, and ataxia skos:exactMatch orphanet.ordo:502423 semapv:UnspecifiedMatching -OMIM:617676 PSMD3 skos:exactMatch hgnc:PSMD3 semapv:UnspecifiedMatching +OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:9560 semapv:UnspecifiedMatching +OMIM:617676 PSMD3 skos:exactMatch hgnc.symbol:PSMD3 semapv:UnspecifiedMatching OMIM:617676 PSMD3 skos:exactMatch ncbigene:5709 semapv:UnspecifiedMatching -OMIM:617678 PCAT2 skos:exactMatch hgnc:PCAT2 semapv:UnspecifiedMatching +OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:45089 semapv:UnspecifiedMatching +OMIM:617678 PCAT2 skos:exactMatch hgnc.symbol:PCAT2 semapv:UnspecifiedMatching OMIM:617678 PCAT2 skos:exactMatch ncbigene:103164619 semapv:UnspecifiedMatching -OMIM:617679 KLHL20 skos:exactMatch hgnc:KLHL20 semapv:UnspecifiedMatching +OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:25056 semapv:UnspecifiedMatching +OMIM:617679 KLHL20 skos:exactMatch hgnc.symbol:KLHL20 semapv:UnspecifiedMatching OMIM:617679 KLHL20 skos:exactMatch ncbigene:27252 semapv:UnspecifiedMatching -OMIM:617680 SSU72 skos:exactMatch hgnc:SSU72 semapv:UnspecifiedMatching +OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:25016 semapv:UnspecifiedMatching +OMIM:617680 SSU72 skos:exactMatch hgnc.symbol:SSU72 semapv:UnspecifiedMatching OMIM:617680 SSU72 skos:exactMatch ncbigene:29101 semapv:UnspecifiedMatching -OMIM:617683 EGFLAM skos:exactMatch hgnc:EGFLAM semapv:UnspecifiedMatching +OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:26810 semapv:UnspecifiedMatching +OMIM:617683 EGFLAM skos:exactMatch hgnc.symbol:EGFLAM semapv:UnspecifiedMatching OMIM:617683 EGFLAM skos:exactMatch ncbigene:133584 semapv:UnspecifiedMatching -OMIM:617684 LYAR skos:exactMatch hgnc:LYAR semapv:UnspecifiedMatching +OMIM:617684 LYAR skos:exactMatch hgnc.symbol:26021 semapv:UnspecifiedMatching +OMIM:617684 LYAR skos:exactMatch hgnc.symbol:LYAR semapv:UnspecifiedMatching OMIM:617684 LYAR skos:exactMatch ncbigene:55646 semapv:UnspecifiedMatching -OMIM:617685 CDH26 skos:exactMatch hgnc:CDH26 semapv:UnspecifiedMatching +OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:15902 semapv:UnspecifiedMatching +OMIM:617685 CDH26 skos:exactMatch hgnc.symbol:CDH26 semapv:UnspecifiedMatching OMIM:617685 CDH26 skos:exactMatch ncbigene:60437 semapv:UnspecifiedMatching -OMIM:617687 TBC1D23 skos:exactMatch hgnc:TBC1D23 semapv:UnspecifiedMatching +OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:25622 semapv:UnspecifiedMatching +OMIM:617687 TBC1D23 skos:exactMatch hgnc.symbol:TBC1D23 semapv:UnspecifiedMatching OMIM:617687 TBC1D23 skos:exactMatch ncbigene:55773 semapv:UnspecifiedMatching -OMIM:617688 PARM1 skos:exactMatch hgnc:PARM1 semapv:UnspecifiedMatching +OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:24536 semapv:UnspecifiedMatching +OMIM:617688 PARM1 skos:exactMatch hgnc.symbol:PARM1 semapv:UnspecifiedMatching OMIM:617688 PARM1 skos:exactMatch ncbigene:25849 semapv:UnspecifiedMatching -OMIM:617689 CSDC2 skos:exactMatch hgnc:CSDC2 semapv:UnspecifiedMatching +OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:30359 semapv:UnspecifiedMatching +OMIM:617689 CSDC2 skos:exactMatch hgnc.symbol:CSDC2 semapv:UnspecifiedMatching OMIM:617689 CSDC2 skos:exactMatch ncbigene:27254 semapv:UnspecifiedMatching -OMIM:617692 PRDM15 skos:exactMatch hgnc:PRDM15 semapv:UnspecifiedMatching +OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:13999 semapv:UnspecifiedMatching +OMIM:617692 PRDM15 skos:exactMatch hgnc.symbol:PRDM15 semapv:UnspecifiedMatching OMIM:617692 PRDM15 skos:exactMatch ncbigene:63977 semapv:UnspecifiedMatching -OMIM:617693 VIT skos:exactMatch hgnc:VIT semapv:UnspecifiedMatching +OMIM:617693 VIT skos:exactMatch hgnc.symbol:12697 semapv:UnspecifiedMatching +OMIM:617693 VIT skos:exactMatch hgnc.symbol:VIT semapv:UnspecifiedMatching OMIM:617693 VIT skos:exactMatch ncbigene:5212 semapv:UnspecifiedMatching -OMIM:617696 LINC01488 skos:exactMatch hgnc:LINC01488 semapv:UnspecifiedMatching +OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:51144 semapv:UnspecifiedMatching +OMIM:617696 LINC01488 skos:exactMatch hgnc.symbol:LINC01488 semapv:UnspecifiedMatching OMIM:617696 LINC01488 skos:exactMatch ncbigene:101928292 semapv:UnspecifiedMatching -OMIM:617697 LINC02747 skos:exactMatch hgnc:LINC02747 semapv:UnspecifiedMatching +OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:54266 semapv:UnspecifiedMatching +OMIM:617697 LINC02747 skos:exactMatch hgnc.symbol:LINC02747 semapv:UnspecifiedMatching OMIM:617697 LINC02747 skos:exactMatch ncbigene:105379407 semapv:UnspecifiedMatching +OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch Orphanet:505216 semapv:UnspecifiedMatching OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch UMLS:C4540171 semapv:UnspecifiedMatching -OMIM:617698 3-methylglutaconic aciduria, iia 9 skos:exactMatch orphanet.ordo:505216 semapv:UnspecifiedMatching OMIM:617699 GID4 skos:exactMatch UMLS:C3539395 semapv:UnspecifiedMatching -OMIM:617699 GID4 skos:exactMatch hgnc:GID4 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch hgnc.symbol:28453 semapv:UnspecifiedMatching +OMIM:617699 GID4 skos:exactMatch hgnc.symbol:GID4 semapv:UnspecifiedMatching OMIM:617699 GID4 skos:exactMatch ncbigene:79018 semapv:UnspecifiedMatching -OMIM:617700 UBE2F skos:exactMatch hgnc:UBE2F semapv:UnspecifiedMatching +OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:12480 semapv:UnspecifiedMatching +OMIM:617700 UBE2F skos:exactMatch hgnc.symbol:UBE2F semapv:UnspecifiedMatching OMIM:617700 UBE2F skos:exactMatch ncbigene:140739 semapv:UnspecifiedMatching -OMIM:617701 CASC8 skos:exactMatch hgnc:CASC8 semapv:UnspecifiedMatching +OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:45129 semapv:UnspecifiedMatching +OMIM:617701 CASC8 skos:exactMatch hgnc.symbol:CASC8 semapv:UnspecifiedMatching OMIM:617701 CASC8 skos:exactMatch ncbigene:727677 semapv:UnspecifiedMatching -OMIM:617702 CASC21 skos:exactMatch hgnc:CASC21 semapv:UnspecifiedMatching +OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:49836 semapv:UnspecifiedMatching +OMIM:617702 CASC21 skos:exactMatch hgnc.symbol:CASC21 semapv:UnspecifiedMatching OMIM:617702 CASC21 skos:exactMatch ncbigene:103021164 semapv:UnspecifiedMatching -OMIM:617703 CASC19 skos:exactMatch hgnc:CASC19 semapv:UnspecifiedMatching +OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:49476 semapv:UnspecifiedMatching +OMIM:617703 CASC19 skos:exactMatch hgnc.symbol:CASC19 semapv:UnspecifiedMatching OMIM:617703 CASC19 skos:exactMatch ncbigene:103021165 semapv:UnspecifiedMatching -OMIM:617704 CASC11 skos:exactMatch hgnc:CASC11 semapv:UnspecifiedMatching +OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:48939 semapv:UnspecifiedMatching +OMIM:617704 CASC11 skos:exactMatch hgnc.symbol:CASC11 semapv:UnspecifiedMatching OMIM:617704 CASC11 skos:exactMatch ncbigene:100270680 semapv:UnspecifiedMatching -OMIM:617705 CCAT1 skos:exactMatch hgnc:CCAT1 semapv:UnspecifiedMatching +OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:45128 semapv:UnspecifiedMatching +OMIM:617705 CCAT1 skos:exactMatch hgnc.symbol:CCAT1 semapv:UnspecifiedMatching OMIM:617705 CCAT1 skos:exactMatch ncbigene:100507056 semapv:UnspecifiedMatching -OMIM:617708 CDC123 skos:exactMatch hgnc:CDC123 semapv:UnspecifiedMatching +OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:16827 semapv:UnspecifiedMatching +OMIM:617708 CDC123 skos:exactMatch hgnc.symbol:CDC123 semapv:UnspecifiedMatching OMIM:617708 CDC123 skos:exactMatch ncbigene:8872 semapv:UnspecifiedMatching -OMIM:617714 CAVIN4 skos:exactMatch hgnc:CAVIN4 semapv:UnspecifiedMatching +OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:33742 semapv:UnspecifiedMatching +OMIM:617714 CAVIN4 skos:exactMatch hgnc.symbol:CAVIN4 semapv:UnspecifiedMatching OMIM:617714 CAVIN4 skos:exactMatch ncbigene:347273 semapv:UnspecifiedMatching -OMIM:617715 MALRD1 skos:exactMatch hgnc:MALRD1 semapv:UnspecifiedMatching +OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:24331 semapv:UnspecifiedMatching +OMIM:617715 MALRD1 skos:exactMatch hgnc.symbol:MALRD1 semapv:UnspecifiedMatching OMIM:617715 MALRD1 skos:exactMatch ncbigene:340895 semapv:UnspecifiedMatching -OMIM:617716 ARHGAP44 skos:exactMatch hgnc:ARHGAP44 semapv:UnspecifiedMatching +OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:29096 semapv:UnspecifiedMatching +OMIM:617716 ARHGAP44 skos:exactMatch hgnc.symbol:ARHGAP44 semapv:UnspecifiedMatching OMIM:617716 ARHGAP44 skos:exactMatch ncbigene:9912 semapv:UnspecifiedMatching OMIM:617718 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia skos:exactMatch UMLS:C4540232 semapv:UnspecifiedMatching -OMIM:617720 PPP1R42 skos:exactMatch hgnc:PPP1R42 semapv:UnspecifiedMatching +OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:33732 semapv:UnspecifiedMatching +OMIM:617720 PPP1R42 skos:exactMatch hgnc.symbol:PPP1R42 semapv:UnspecifiedMatching OMIM:617720 PPP1R42 skos:exactMatch ncbigene:286187 semapv:UnspecifiedMatching OMIM:617721 neuronopathy, distal hereditary motor, autosomal dominant 9 skos:exactMatch UMLS:C4540265 semapv:UnspecifiedMatching -OMIM:617722 TXNL4B skos:exactMatch hgnc:TXNL4B semapv:UnspecifiedMatching +OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:26041 semapv:UnspecifiedMatching +OMIM:617722 TXNL4B skos:exactMatch hgnc.symbol:TXNL4B semapv:UnspecifiedMatching OMIM:617722 TXNL4B skos:exactMatch ncbigene:54957 semapv:UnspecifiedMatching -OMIM:617723 RRP12 skos:exactMatch hgnc:RRP12 semapv:UnspecifiedMatching +OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:29100 semapv:UnspecifiedMatching +OMIM:617723 RRP12 skos:exactMatch hgnc.symbol:RRP12 semapv:UnspecifiedMatching OMIM:617723 RRP12 skos:exactMatch ncbigene:23223 semapv:UnspecifiedMatching -OMIM:617724 TSC22D2 skos:exactMatch hgnc:TSC22D2 semapv:UnspecifiedMatching +OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:29095 semapv:UnspecifiedMatching +OMIM:617724 TSC22D2 skos:exactMatch hgnc.symbol:TSC22D2 semapv:UnspecifiedMatching OMIM:617724 TSC22D2 skos:exactMatch ncbigene:9819 semapv:UnspecifiedMatching -OMIM:617725 FUOM skos:exactMatch hgnc:FUOM semapv:UnspecifiedMatching +OMIM:617725 FUOM skos:exactMatch hgnc.symbol:24733 semapv:UnspecifiedMatching +OMIM:617725 FUOM skos:exactMatch hgnc.symbol:FUOM semapv:UnspecifiedMatching OMIM:617725 FUOM skos:exactMatch ncbigene:282969 semapv:UnspecifiedMatching -OMIM:617726 CARD19 skos:exactMatch hgnc:CARD19 semapv:UnspecifiedMatching +OMIM:617726 CARD19 skos:exactMatch hgnc.symbol:28148 semapv:UnspecifiedMatching +OMIM:617726 CARD19 skos:exactMatch hgnc.symbol:CARD19 semapv:UnspecifiedMatching OMIM:617726 CARD19 skos:exactMatch ncbigene:84270 semapv:UnspecifiedMatching -OMIM:617727 TM9SF4 skos:exactMatch hgnc:TM9SF4 semapv:UnspecifiedMatching +OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:30797 semapv:UnspecifiedMatching +OMIM:617727 TM9SF4 skos:exactMatch hgnc.symbol:TM9SF4 semapv:UnspecifiedMatching OMIM:617727 TM9SF4 skos:exactMatch ncbigene:9777 semapv:UnspecifiedMatching -OMIM:617728 CEP295 skos:exactMatch hgnc:CEP295 semapv:UnspecifiedMatching +OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:29366 semapv:UnspecifiedMatching +OMIM:617728 CEP295 skos:exactMatch hgnc.symbol:CEP295 semapv:UnspecifiedMatching OMIM:617728 CEP295 skos:exactMatch ncbigene:85459 semapv:UnspecifiedMatching -OMIM:617733 ZNF518A skos:exactMatch hgnc:ZNF518A semapv:UnspecifiedMatching +OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:29009 semapv:UnspecifiedMatching +OMIM:617733 ZNF518A skos:exactMatch hgnc.symbol:ZNF518A semapv:UnspecifiedMatching OMIM:617733 ZNF518A skos:exactMatch ncbigene:9849 semapv:UnspecifiedMatching -OMIM:617734 ZNF518B skos:exactMatch hgnc:ZNF518B semapv:UnspecifiedMatching +OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:29365 semapv:UnspecifiedMatching +OMIM:617734 ZNF518B skos:exactMatch hgnc.symbol:ZNF518B semapv:UnspecifiedMatching OMIM:617734 ZNF518B skos:exactMatch ncbigene:85460 semapv:UnspecifiedMatching -OMIM:617735 C10ORF90 skos:exactMatch hgnc:C10orf90 semapv:UnspecifiedMatching +OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:26563 semapv:UnspecifiedMatching +OMIM:617735 C10ORF90 skos:exactMatch hgnc.symbol:C10orf90 semapv:UnspecifiedMatching OMIM:617735 C10ORF90 skos:exactMatch ncbigene:118611 semapv:UnspecifiedMatching -OMIM:617736 MORN4 skos:exactMatch hgnc:MORN4 semapv:UnspecifiedMatching +OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:24001 semapv:UnspecifiedMatching +OMIM:617736 MORN4 skos:exactMatch hgnc.symbol:MORN4 semapv:UnspecifiedMatching OMIM:617736 MORN4 skos:exactMatch ncbigene:118812 semapv:UnspecifiedMatching -OMIM:617737 SMPDL3B skos:exactMatch hgnc:SMPDL3B semapv:UnspecifiedMatching +OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:21416 semapv:UnspecifiedMatching +OMIM:617737 SMPDL3B skos:exactMatch hgnc.symbol:SMPDL3B semapv:UnspecifiedMatching OMIM:617737 SMPDL3B skos:exactMatch ncbigene:27293 semapv:UnspecifiedMatching -OMIM:617738 KBTBD6 skos:exactMatch hgnc:KBTBD6 semapv:UnspecifiedMatching +OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:25340 semapv:UnspecifiedMatching +OMIM:617738 KBTBD6 skos:exactMatch hgnc.symbol:KBTBD6 semapv:UnspecifiedMatching OMIM:617738 KBTBD6 skos:exactMatch ncbigene:89890 semapv:UnspecifiedMatching -OMIM:617739 KBTBD7 skos:exactMatch hgnc:KBTBD7 semapv:UnspecifiedMatching +OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:25266 semapv:UnspecifiedMatching +OMIM:617739 KBTBD7 skos:exactMatch hgnc.symbol:KBTBD7 semapv:UnspecifiedMatching OMIM:617739 KBTBD7 skos:exactMatch ncbigene:84078 semapv:UnspecifiedMatching -OMIM:617740 VSIG10L skos:exactMatch hgnc:VSIG10L semapv:UnspecifiedMatching +OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:27111 semapv:UnspecifiedMatching +OMIM:617740 VSIG10L skos:exactMatch hgnc.symbol:VSIG10L semapv:UnspecifiedMatching OMIM:617740 VSIG10L skos:exactMatch ncbigene:147645 semapv:UnspecifiedMatching -OMIM:617741 WDR20 skos:exactMatch hgnc:WDR20 semapv:UnspecifiedMatching +OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:19667 semapv:UnspecifiedMatching +OMIM:617741 WDR20 skos:exactMatch hgnc.symbol:WDR20 semapv:UnspecifiedMatching OMIM:617741 WDR20 skos:exactMatch ncbigene:91833 semapv:UnspecifiedMatching -OMIM:617742 KANSL3 skos:exactMatch hgnc:KANSL3 semapv:UnspecifiedMatching +OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:25473 semapv:UnspecifiedMatching +OMIM:617742 KANSL3 skos:exactMatch hgnc.symbol:KANSL3 semapv:UnspecifiedMatching OMIM:617742 KANSL3 skos:exactMatch ncbigene:55683 semapv:UnspecifiedMatching OMIM:617745 MFSD12 skos:exactMatch UMLS:C3470954 semapv:UnspecifiedMatching OMIM:617745 MFSD12 skos:exactMatch UMLS:C4694043 semapv:UnspecifiedMatching -OMIM:617745 MFSD12 skos:exactMatch hgnc:MFSD12 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:28299 semapv:UnspecifiedMatching +OMIM:617745 MFSD12 skos:exactMatch hgnc.symbol:MFSD12 semapv:UnspecifiedMatching OMIM:617745 MFSD12 skos:exactMatch ncbigene:126321 semapv:UnspecifiedMatching OMIM:617746 sweeney-cox syndrome skos:exactMatch UMLS:C4540299 semapv:UnspecifiedMatching -OMIM:617747 SP140L skos:exactMatch hgnc:SP140L semapv:UnspecifiedMatching +OMIM:617747 SP140L skos:exactMatch hgnc.symbol:25105 semapv:UnspecifiedMatching +OMIM:617747 SP140L skos:exactMatch hgnc.symbol:SP140L semapv:UnspecifiedMatching OMIM:617747 SP140L skos:exactMatch ncbigene:93349 semapv:UnspecifiedMatching -OMIM:617748 TDRD5 skos:exactMatch hgnc:TDRD5 semapv:UnspecifiedMatching +OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:20614 semapv:UnspecifiedMatching +OMIM:617748 TDRD5 skos:exactMatch hgnc.symbol:TDRD5 semapv:UnspecifiedMatching OMIM:617748 TDRD5 skos:exactMatch ncbigene:163589 semapv:UnspecifiedMatching -OMIM:617750 LIMCH1 skos:exactMatch hgnc:LIMCH1 semapv:UnspecifiedMatching +OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:29191 semapv:UnspecifiedMatching +OMIM:617750 LIMCH1 skos:exactMatch hgnc.symbol:LIMCH1 semapv:UnspecifiedMatching OMIM:617750 LIMCH1 skos:exactMatch ncbigene:22998 semapv:UnspecifiedMatching +OMIM:617752 clark-baraitser syndrome skos:exactMatch Orphanet:600731 semapv:UnspecifiedMatching OMIM:617752 clark-baraitser syndrome skos:exactMatch UMLS:C2931130 semapv:UnspecifiedMatching -OMIM:617752 clark-baraitser syndrome skos:exactMatch orphanet.ordo:600731 semapv:UnspecifiedMatching -OMIM:617753 RIOK1 skos:exactMatch hgnc:RIOK1 semapv:UnspecifiedMatching +OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:18656 semapv:UnspecifiedMatching +OMIM:617753 RIOK1 skos:exactMatch hgnc.symbol:RIOK1 semapv:UnspecifiedMatching OMIM:617753 RIOK1 skos:exactMatch ncbigene:83732 semapv:UnspecifiedMatching -OMIM:617754 RIOK2 skos:exactMatch hgnc:RIOK2 semapv:UnspecifiedMatching +OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:18999 semapv:UnspecifiedMatching +OMIM:617754 RIOK2 skos:exactMatch hgnc.symbol:RIOK2 semapv:UnspecifiedMatching OMIM:617754 RIOK2 skos:exactMatch ncbigene:55781 semapv:UnspecifiedMatching -OMIM:617758 ZNF692 skos:exactMatch hgnc:ZNF692 semapv:UnspecifiedMatching +OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:26049 semapv:UnspecifiedMatching +OMIM:617758 ZNF692 skos:exactMatch hgnc.symbol:ZNF692 semapv:UnspecifiedMatching OMIM:617758 ZNF692 skos:exactMatch ncbigene:55657 semapv:UnspecifiedMatching -OMIM:617759 RPUSD3 skos:exactMatch hgnc:RPUSD3 semapv:UnspecifiedMatching +OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:28437 semapv:UnspecifiedMatching +OMIM:617759 RPUSD3 skos:exactMatch hgnc.symbol:RPUSD3 semapv:UnspecifiedMatching OMIM:617759 RPUSD3 skos:exactMatch ncbigene:285367 semapv:UnspecifiedMatching -OMIM:617764 ZER1 skos:exactMatch hgnc:ZER1 semapv:UnspecifiedMatching +OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:30960 semapv:UnspecifiedMatching +OMIM:617764 ZER1 skos:exactMatch hgnc.symbol:ZER1 semapv:UnspecifiedMatching OMIM:617764 ZER1 skos:exactMatch ncbigene:10444 semapv:UnspecifiedMatching -OMIM:617766 FAM192A skos:exactMatch hgnc:PSME3IP1 semapv:UnspecifiedMatching +OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:29856 semapv:UnspecifiedMatching +OMIM:617766 FAM192A skos:exactMatch hgnc.symbol:PSME3IP1 semapv:UnspecifiedMatching OMIM:617766 FAM192A skos:exactMatch ncbigene:80011 semapv:UnspecifiedMatching OMIM:617767 joubert syndrome 33 skos:exactMatch UMLS:C4540389 semapv:UnspecifiedMatching OMIM:617771 developmental and epileptic encephalopathy 57 skos:exactMatch UMLS:C4540411 semapv:UnspecifiedMatching OMIM:617772 deafness, autosomal dominant 34, with or without inflammation skos:exactMatch UMLS:C4521680 semapv:UnspecifiedMatching -OMIM:617774 LONP2 skos:exactMatch hgnc:LONP2 semapv:UnspecifiedMatching +OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:20598 semapv:UnspecifiedMatching +OMIM:617774 LONP2 skos:exactMatch hgnc.symbol:LONP2 semapv:UnspecifiedMatching OMIM:617774 LONP2 skos:exactMatch ncbigene:83752 semapv:UnspecifiedMatching -OMIM:617775 C10ORF99 skos:exactMatch hgnc:GPR15LG semapv:UnspecifiedMatching +OMIM:617775 C10ORF99 skos:exactMatch hgnc.symbol:GPR15LG semapv:UnspecifiedMatching OMIM:617775 C10ORF99 skos:exactMatch ncbigene:387695 semapv:UnspecifiedMatching -OMIM:617776 BAGE2 skos:exactMatch hgnc:BAGE2 semapv:UnspecifiedMatching +OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:15723 semapv:UnspecifiedMatching +OMIM:617776 BAGE2 skos:exactMatch hgnc.symbol:BAGE2 semapv:UnspecifiedMatching OMIM:617776 BAGE2 skos:exactMatch ncbigene:85319 semapv:UnspecifiedMatching -OMIM:617777 BAGE3 skos:exactMatch hgnc:BAGE3 semapv:UnspecifiedMatching +OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:15728 semapv:UnspecifiedMatching +OMIM:617777 BAGE3 skos:exactMatch hgnc.symbol:BAGE3 semapv:UnspecifiedMatching OMIM:617777 BAGE3 skos:exactMatch ncbigene:85318 semapv:UnspecifiedMatching -OMIM:617778 TXNDC15 skos:exactMatch hgnc:TXNDC15 semapv:UnspecifiedMatching +OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:20652 semapv:UnspecifiedMatching +OMIM:617778 TXNDC15 skos:exactMatch hgnc.symbol:TXNDC15 semapv:UnspecifiedMatching OMIM:617778 TXNDC15 skos:exactMatch ncbigene:79770 semapv:UnspecifiedMatching -OMIM:617779 TMEM256 skos:exactMatch hgnc:TMEM256 semapv:UnspecifiedMatching +OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:28618 semapv:UnspecifiedMatching +OMIM:617779 TMEM256 skos:exactMatch hgnc.symbol:TMEM256 semapv:UnspecifiedMatching OMIM:617779 TMEM256 skos:exactMatch ncbigene:254863 semapv:UnspecifiedMatching OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:exactMatch UMLS:C4540434 semapv:UnspecifiedMatching OMIM:617782 GREB1L skos:exactMatch UMLS:C1429058 semapv:UnspecifiedMatching OMIM:617782 GREB1L skos:exactMatch UMLS:C4540497 semapv:UnspecifiedMatching -OMIM:617782 GREB1L skos:exactMatch hgnc:GREB1L semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:31042 semapv:UnspecifiedMatching +OMIM:617782 GREB1L skos:exactMatch hgnc.symbol:GREB1L semapv:UnspecifiedMatching OMIM:617782 GREB1L skos:exactMatch ncbigene:80000 semapv:UnspecifiedMatching -OMIM:617785 PAPLN skos:exactMatch hgnc:PAPLN semapv:UnspecifiedMatching +OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:19262 semapv:UnspecifiedMatching +OMIM:617785 PAPLN skos:exactMatch hgnc.symbol:PAPLN semapv:UnspecifiedMatching OMIM:617785 PAPLN skos:exactMatch ncbigene:89932 semapv:UnspecifiedMatching -OMIM:617786 CCT8 skos:exactMatch hgnc:CCT8 semapv:UnspecifiedMatching +OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:1623 semapv:UnspecifiedMatching +OMIM:617786 CCT8 skos:exactMatch hgnc.symbol:CCT8 semapv:UnspecifiedMatching OMIM:617786 CCT8 skos:exactMatch ncbigene:10694 semapv:UnspecifiedMatching -OMIM:617789 TXNDC8 skos:exactMatch hgnc:TXNDC8 semapv:UnspecifiedMatching +OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:31454 semapv:UnspecifiedMatching +OMIM:617789 TXNDC8 skos:exactMatch hgnc.symbol:TXNDC8 semapv:UnspecifiedMatching OMIM:617789 TXNDC8 skos:exactMatch ncbigene:255220 semapv:UnspecifiedMatching -OMIM:617790 TXNDC2 skos:exactMatch hgnc:TXNDC2 semapv:UnspecifiedMatching +OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:16470 semapv:UnspecifiedMatching +OMIM:617790 TXNDC2 skos:exactMatch hgnc.symbol:TXNDC2 semapv:UnspecifiedMatching OMIM:617790 TXNDC2 skos:exactMatch ncbigene:84203 semapv:UnspecifiedMatching -OMIM:617791 LRRCC1 skos:exactMatch hgnc:LRRCC1 semapv:UnspecifiedMatching +OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:29373 semapv:UnspecifiedMatching +OMIM:617791 LRRCC1 skos:exactMatch hgnc.symbol:LRRCC1 semapv:UnspecifiedMatching OMIM:617791 LRRCC1 skos:exactMatch ncbigene:85444 semapv:UnspecifiedMatching -OMIM:617792 TXNDC11 skos:exactMatch hgnc:TXNDC11 semapv:UnspecifiedMatching +OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:28030 semapv:UnspecifiedMatching +OMIM:617792 TXNDC11 skos:exactMatch hgnc.symbol:TXNDC11 semapv:UnspecifiedMatching OMIM:617792 TXNDC11 skos:exactMatch ncbigene:51061 semapv:UnspecifiedMatching -OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc:EEF1AKMT1 semapv:UnspecifiedMatching +OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:27351 semapv:UnspecifiedMatching +OMIM:617793 EEF1AKMT1 skos:exactMatch hgnc.symbol:EEF1AKMT1 semapv:UnspecifiedMatching OMIM:617793 EEF1AKMT1 skos:exactMatch ncbigene:221143 semapv:UnspecifiedMatching -OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc:EEF1AKMT2 semapv:UnspecifiedMatching +OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:33787 semapv:UnspecifiedMatching +OMIM:617794 EEF1AKMT2 skos:exactMatch hgnc.symbol:EEF1AKMT2 semapv:UnspecifiedMatching OMIM:617794 EEF1AKMT2 skos:exactMatch ncbigene:399818 semapv:UnspecifiedMatching -OMIM:617795 EPOP skos:exactMatch hgnc:EPOP semapv:UnspecifiedMatching +OMIM:617795 EPOP skos:exactMatch hgnc.symbol:34493 semapv:UnspecifiedMatching +OMIM:617795 EPOP skos:exactMatch hgnc.symbol:EPOP semapv:UnspecifiedMatching OMIM:617795 EPOP skos:exactMatch ncbigene:100170841 semapv:UnspecifiedMatching +OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch UMLS:C4540478 semapv:UnspecifiedMatching -OMIM:617796 intellectual developmental disorder, autosomal dominant 52 skos:exactMatch orphanet.ordo:178469 semapv:UnspecifiedMatching -OMIM:617797 SRMS skos:exactMatch hgnc:SRMS semapv:UnspecifiedMatching +OMIM:617797 SRMS skos:exactMatch hgnc.symbol:11298 semapv:UnspecifiedMatching +OMIM:617797 SRMS skos:exactMatch hgnc.symbol:SRMS semapv:UnspecifiedMatching OMIM:617797 SRMS skos:exactMatch ncbigene:6725 semapv:UnspecifiedMatching -OMIM:617801 CAP1 skos:exactMatch hgnc:CAP1 semapv:UnspecifiedMatching +OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:20040 semapv:UnspecifiedMatching +OMIM:617801 CAP1 skos:exactMatch hgnc.symbol:CAP1 semapv:UnspecifiedMatching OMIM:617801 CAP1 skos:exactMatch ncbigene:10487 semapv:UnspecifiedMatching -OMIM:617803 TMEM26 skos:exactMatch hgnc:TMEM26 semapv:UnspecifiedMatching +OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:28550 semapv:UnspecifiedMatching +OMIM:617803 TMEM26 skos:exactMatch hgnc.symbol:TMEM26 semapv:UnspecifiedMatching OMIM:617803 TMEM26 skos:exactMatch ncbigene:219623 semapv:UnspecifiedMatching OMIM:617804 neurodevelopmental disorder with variable motor and language impairment skos:exactMatch UMLS:C4540496 semapv:UnspecifiedMatching -OMIM:617806 TMEM86B skos:exactMatch hgnc:TMEM86B semapv:UnspecifiedMatching +OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:28448 semapv:UnspecifiedMatching +OMIM:617806 TMEM86B skos:exactMatch hgnc.symbol:TMEM86B semapv:UnspecifiedMatching OMIM:617806 TMEM86B skos:exactMatch ncbigene:255043 semapv:UnspecifiedMatching -OMIM:617811 SMU1 skos:exactMatch hgnc:SMU1 semapv:UnspecifiedMatching +OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:18247 semapv:UnspecifiedMatching +OMIM:617811 SMU1 skos:exactMatch hgnc.symbol:SMU1 semapv:UnspecifiedMatching OMIM:617811 SMU1 skos:exactMatch ncbigene:55234 semapv:UnspecifiedMatching -OMIM:617812 SLC35G2 skos:exactMatch hgnc:SLC35G2 semapv:UnspecifiedMatching +OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:28480 semapv:UnspecifiedMatching +OMIM:617812 SLC35G2 skos:exactMatch hgnc.symbol:SLC35G2 semapv:UnspecifiedMatching OMIM:617812 SLC35G2 skos:exactMatch ncbigene:80723 semapv:UnspecifiedMatching -OMIM:617813 TMEM88 skos:exactMatch hgnc:TMEM88 semapv:UnspecifiedMatching +OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:32371 semapv:UnspecifiedMatching +OMIM:617813 TMEM88 skos:exactMatch hgnc.symbol:TMEM88 semapv:UnspecifiedMatching OMIM:617813 TMEM88 skos:exactMatch ncbigene:92162 semapv:UnspecifiedMatching OMIM:617814 TMEM95 skos:exactMatch UMLS:C1823356 semapv:UnspecifiedMatching -OMIM:617814 TMEM95 skos:exactMatch hgnc:TMEM95 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:27898 semapv:UnspecifiedMatching +OMIM:617814 TMEM95 skos:exactMatch hgnc.symbol:TMEM95 semapv:UnspecifiedMatching OMIM:617814 TMEM95 skos:exactMatch ncbigene:339168 semapv:UnspecifiedMatching -OMIM:617815 POLR3E skos:exactMatch hgnc:POLR3E semapv:UnspecifiedMatching +OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:30347 semapv:UnspecifiedMatching +OMIM:617815 POLR3E skos:exactMatch hgnc.symbol:POLR3E semapv:UnspecifiedMatching OMIM:617815 POLR3E skos:exactMatch ncbigene:55718 semapv:UnspecifiedMatching OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C1425637 semapv:UnspecifiedMatching OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching OMIM:617817 TUBGCP2 skos:exactMatch UMLS:C5231550 semapv:UnspecifiedMatching -OMIM:617817 TUBGCP2 skos:exactMatch hgnc:TUBGCP2 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:18599 semapv:UnspecifiedMatching +OMIM:617817 TUBGCP2 skos:exactMatch hgnc.symbol:TUBGCP2 semapv:UnspecifiedMatching OMIM:617817 TUBGCP2 skos:exactMatch ncbigene:10844 semapv:UnspecifiedMatching -OMIM:617818 TUBGCP3 skos:exactMatch hgnc:TUBGCP3 semapv:UnspecifiedMatching +OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:18598 semapv:UnspecifiedMatching +OMIM:617818 TUBGCP3 skos:exactMatch hgnc.symbol:TUBGCP3 semapv:UnspecifiedMatching OMIM:617818 TUBGCP3 skos:exactMatch ncbigene:10426 semapv:UnspecifiedMatching -OMIM:617819 RALGPS2 skos:exactMatch hgnc:RALGPS2 semapv:UnspecifiedMatching +OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:30279 semapv:UnspecifiedMatching +OMIM:617819 RALGPS2 skos:exactMatch hgnc.symbol:RALGPS2 semapv:UnspecifiedMatching OMIM:617819 RALGPS2 skos:exactMatch ncbigene:55103 semapv:UnspecifiedMatching -OMIM:617823 PWWP2A skos:exactMatch hgnc:PWWP2A semapv:UnspecifiedMatching +OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:29406 semapv:UnspecifiedMatching +OMIM:617823 PWWP2A skos:exactMatch hgnc.symbol:PWWP2A semapv:UnspecifiedMatching OMIM:617823 PWWP2A skos:exactMatch ncbigene:114825 semapv:UnspecifiedMatching -OMIM:617824 BRWD1 skos:exactMatch hgnc:BRWD1 semapv:UnspecifiedMatching +OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:12760 semapv:UnspecifiedMatching +OMIM:617824 BRWD1 skos:exactMatch hgnc.symbol:BRWD1 semapv:UnspecifiedMatching OMIM:617824 BRWD1 skos:exactMatch ncbigene:54014 semapv:UnspecifiedMatching -OMIM:617826 UNC50 skos:exactMatch hgnc:UNC50 semapv:UnspecifiedMatching +OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:16046 semapv:UnspecifiedMatching +OMIM:617826 UNC50 skos:exactMatch hgnc.symbol:UNC50 semapv:UnspecifiedMatching OMIM:617826 UNC50 skos:exactMatch ncbigene:25972 semapv:UnspecifiedMatching -OMIM:617828 ZFHX2 skos:exactMatch hgnc:ZFHX2 semapv:UnspecifiedMatching +OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:20152 semapv:UnspecifiedMatching +OMIM:617828 ZFHX2 skos:exactMatch hgnc.symbol:ZFHX2 semapv:UnspecifiedMatching OMIM:617828 ZFHX2 skos:exactMatch ncbigene:85446 semapv:UnspecifiedMatching +OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch UMLS:C4693367 semapv:UnspecifiedMatching -OMIM:617830 developmental and epileptic encephalopathy 58 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617832 SNTN skos:exactMatch hgnc:SNTN semapv:UnspecifiedMatching +OMIM:617832 SNTN skos:exactMatch hgnc.symbol:33706 semapv:UnspecifiedMatching +OMIM:617832 SNTN skos:exactMatch hgnc.symbol:SNTN semapv:UnspecifiedMatching OMIM:617832 SNTN skos:exactMatch ncbigene:132203 semapv:UnspecifiedMatching -OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc:ZFHX2-AS1 semapv:UnspecifiedMatching +OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:52658 semapv:UnspecifiedMatching +OMIM:617833 ZFHX2AS1 skos:exactMatch hgnc.symbol:ZFHX2-AS1 semapv:UnspecifiedMatching OMIM:617833 ZFHX2AS1 skos:exactMatch ncbigene:109729160 semapv:UnspecifiedMatching -OMIM:617834 PLEKHJ1 skos:exactMatch hgnc:PLEKHJ1 semapv:UnspecifiedMatching +OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:18211 semapv:UnspecifiedMatching +OMIM:617834 PLEKHJ1 skos:exactMatch hgnc.symbol:PLEKHJ1 semapv:UnspecifiedMatching OMIM:617834 PLEKHJ1 skos:exactMatch ncbigene:55111 semapv:UnspecifiedMatching -OMIM:617835 PDPR skos:exactMatch hgnc:PDPR semapv:UnspecifiedMatching +OMIM:617835 PDPR skos:exactMatch hgnc.symbol:30264 semapv:UnspecifiedMatching +OMIM:617835 PDPR skos:exactMatch hgnc.symbol:PDPR semapv:UnspecifiedMatching OMIM:617835 PDPR skos:exactMatch ncbigene:55066 semapv:UnspecifiedMatching -OMIM:617837 GFRAL skos:exactMatch hgnc:GFRAL semapv:UnspecifiedMatching +OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:32789 semapv:UnspecifiedMatching +OMIM:617837 GFRAL skos:exactMatch hgnc.symbol:GFRAL semapv:UnspecifiedMatching OMIM:617837 GFRAL skos:exactMatch ncbigene:389400 semapv:UnspecifiedMatching -OMIM:617838 FAM234B skos:exactMatch hgnc:FAM234B semapv:UnspecifiedMatching +OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:29288 semapv:UnspecifiedMatching +OMIM:617838 FAM234B skos:exactMatch hgnc.symbol:FAM234B semapv:UnspecifiedMatching OMIM:617838 FAM234B skos:exactMatch ncbigene:57613 semapv:UnspecifiedMatching -OMIM:617840 TRIT1 skos:exactMatch hgnc:TRIT1 semapv:UnspecifiedMatching +OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:20286 semapv:UnspecifiedMatching +OMIM:617840 TRIT1 skos:exactMatch hgnc.symbol:TRIT1 semapv:UnspecifiedMatching OMIM:617840 TRIT1 skos:exactMatch ncbigene:54802 semapv:UnspecifiedMatching -OMIM:617841 PSMA8 skos:exactMatch hgnc:PSMA8 semapv:UnspecifiedMatching +OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:22985 semapv:UnspecifiedMatching +OMIM:617841 PSMA8 skos:exactMatch hgnc.symbol:PSMA8 semapv:UnspecifiedMatching OMIM:617841 PSMA8 skos:exactMatch ncbigene:143471 semapv:UnspecifiedMatching -OMIM:617842 PSMD1 skos:exactMatch hgnc:PSMD1 semapv:UnspecifiedMatching +OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:9554 semapv:UnspecifiedMatching +OMIM:617842 PSMD1 skos:exactMatch hgnc.symbol:PSMD1 semapv:UnspecifiedMatching OMIM:617842 PSMD1 skos:exactMatch ncbigene:5707 semapv:UnspecifiedMatching -OMIM:617843 RWDD2B skos:exactMatch hgnc:RWDD2B semapv:UnspecifiedMatching +OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:1302 semapv:UnspecifiedMatching +OMIM:617843 RWDD2B skos:exactMatch hgnc.symbol:RWDD2B semapv:UnspecifiedMatching OMIM:617843 RWDD2B skos:exactMatch ncbigene:10069 semapv:UnspecifiedMatching -OMIM:617844 PSMD8 skos:exactMatch hgnc:PSMD8 semapv:UnspecifiedMatching +OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:9566 semapv:UnspecifiedMatching +OMIM:617844 PSMD8 skos:exactMatch hgnc.symbol:PSMD8 semapv:UnspecifiedMatching OMIM:617844 PSMD8 skos:exactMatch ncbigene:5714 semapv:UnspecifiedMatching -OMIM:617845 MFSD2B skos:exactMatch hgnc:MFSD2B semapv:UnspecifiedMatching +OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:37207 semapv:UnspecifiedMatching +OMIM:617845 MFSD2B skos:exactMatch hgnc.symbol:MFSD2B semapv:UnspecifiedMatching OMIM:617845 MFSD2B skos:exactMatch ncbigene:388931 semapv:UnspecifiedMatching -OMIM:617846 PHF5A skos:exactMatch hgnc:PHF5A semapv:UnspecifiedMatching +OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:18000 semapv:UnspecifiedMatching +OMIM:617846 PHF5A skos:exactMatch hgnc.symbol:PHF5A semapv:UnspecifiedMatching OMIM:617846 PHF5A skos:exactMatch ncbigene:84844 semapv:UnspecifiedMatching -OMIM:617847 SF3B5 skos:exactMatch hgnc:SF3B5 semapv:UnspecifiedMatching +OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:21083 semapv:UnspecifiedMatching +OMIM:617847 SF3B5 skos:exactMatch hgnc.symbol:SF3B5 semapv:UnspecifiedMatching OMIM:617847 SF3B5 skos:exactMatch ncbigene:83443 semapv:UnspecifiedMatching OMIM:617848 DDX46 skos:exactMatch UMLS:C1425701 semapv:UnspecifiedMatching -OMIM:617848 DDX46 skos:exactMatch hgnc:DDX46 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:18681 semapv:UnspecifiedMatching +OMIM:617848 DDX46 skos:exactMatch hgnc.symbol:DDX46 semapv:UnspecifiedMatching OMIM:617848 DDX46 skos:exactMatch ncbigene:9879 semapv:UnspecifiedMatching -OMIM:617849 U2SURP skos:exactMatch hgnc:U2SURP semapv:UnspecifiedMatching +OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:30855 semapv:UnspecifiedMatching +OMIM:617849 U2SURP skos:exactMatch hgnc.symbol:U2SURP semapv:UnspecifiedMatching OMIM:617849 U2SURP skos:exactMatch ncbigene:23350 semapv:UnspecifiedMatching -OMIM:617850 SERTAD1 skos:exactMatch hgnc:SERTAD1 semapv:UnspecifiedMatching +OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:17932 semapv:UnspecifiedMatching +OMIM:617850 SERTAD1 skos:exactMatch hgnc.symbol:SERTAD1 semapv:UnspecifiedMatching OMIM:617850 SERTAD1 skos:exactMatch ncbigene:29950 semapv:UnspecifiedMatching -OMIM:617851 SERTAD2 skos:exactMatch hgnc:SERTAD2 semapv:UnspecifiedMatching +OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:30784 semapv:UnspecifiedMatching +OMIM:617851 SERTAD2 skos:exactMatch hgnc.symbol:SERTAD2 semapv:UnspecifiedMatching OMIM:617851 SERTAD2 skos:exactMatch ncbigene:9792 semapv:UnspecifiedMatching -OMIM:617852 SEC23IP skos:exactMatch hgnc:SEC23IP semapv:UnspecifiedMatching +OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:17018 semapv:UnspecifiedMatching +OMIM:617852 SEC23IP skos:exactMatch hgnc.symbol:SEC23IP semapv:UnspecifiedMatching OMIM:617852 SEC23IP skos:exactMatch ncbigene:11196 semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch UMLS:C1824548 semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching -OMIM:617853 SVBP skos:exactMatch hgnc:SVBP semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch hgnc.symbol:29204 semapv:UnspecifiedMatching +OMIM:617853 SVBP skos:exactMatch hgnc.symbol:SVBP semapv:UnspecifiedMatching OMIM:617853 SVBP skos:exactMatch ncbigene:374969 semapv:UnspecifiedMatching -OMIM:617855 BMT2 skos:exactMatch hgnc:BMT2 semapv:UnspecifiedMatching +OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:26475 semapv:UnspecifiedMatching +OMIM:617855 BMT2 skos:exactMatch hgnc.symbol:BMT2 semapv:UnspecifiedMatching OMIM:617855 BMT2 skos:exactMatch ncbigene:154743 semapv:UnspecifiedMatching -OMIM:617856 THEMIS2 skos:exactMatch hgnc:THEMIS2 semapv:UnspecifiedMatching +OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:16839 semapv:UnspecifiedMatching +OMIM:617856 THEMIS2 skos:exactMatch hgnc.symbol:THEMIS2 semapv:UnspecifiedMatching OMIM:617856 THEMIS2 skos:exactMatch ncbigene:9473 semapv:UnspecifiedMatching -OMIM:617857 PSMD6 skos:exactMatch hgnc:PSMD6 semapv:UnspecifiedMatching +OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:9564 semapv:UnspecifiedMatching +OMIM:617857 PSMD6 skos:exactMatch hgnc.symbol:PSMD6 semapv:UnspecifiedMatching OMIM:617857 PSMD6 skos:exactMatch ncbigene:9861 semapv:UnspecifiedMatching -OMIM:617858 PSMF1 skos:exactMatch hgnc:PSMF1 semapv:UnspecifiedMatching +OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:9571 semapv:UnspecifiedMatching +OMIM:617858 PSMF1 skos:exactMatch hgnc.symbol:PSMF1 semapv:UnspecifiedMatching OMIM:617858 PSMF1 skos:exactMatch ncbigene:9491 semapv:UnspecifiedMatching -OMIM:617859 DLGAP5 skos:exactMatch hgnc:DLGAP5 semapv:UnspecifiedMatching +OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:16864 semapv:UnspecifiedMatching +OMIM:617859 DLGAP5 skos:exactMatch hgnc.symbol:DLGAP5 semapv:UnspecifiedMatching OMIM:617859 DLGAP5 skos:exactMatch ncbigene:9787 semapv:UnspecifiedMatching -OMIM:617860 SFTA3 skos:exactMatch hgnc:SFTA3 semapv:UnspecifiedMatching +OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:18387 semapv:UnspecifiedMatching +OMIM:617860 SFTA3 skos:exactMatch hgnc.symbol:SFTA3 semapv:UnspecifiedMatching OMIM:617860 SFTA3 skos:exactMatch ncbigene:253970 semapv:UnspecifiedMatching -OMIM:617861 MYPOP skos:exactMatch hgnc:MYPOP semapv:UnspecifiedMatching +OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:20178 semapv:UnspecifiedMatching +OMIM:617861 MYPOP skos:exactMatch hgnc.symbol:MYPOP semapv:UnspecifiedMatching OMIM:617861 MYPOP skos:exactMatch ncbigene:339344 semapv:UnspecifiedMatching OMIM:617865 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features skos:exactMatch UMLS:C4693405 semapv:UnspecifiedMatching -OMIM:617867 TP53I11 skos:exactMatch hgnc:TP53I11 semapv:UnspecifiedMatching +OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:16842 semapv:UnspecifiedMatching +OMIM:617867 TP53I11 skos:exactMatch hgnc.symbol:TP53I11 semapv:UnspecifiedMatching OMIM:617867 TP53I11 skos:exactMatch ncbigene:9537 semapv:UnspecifiedMatching -OMIM:617868 NAF1 skos:exactMatch hgnc:NAF1 semapv:UnspecifiedMatching +OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:25126 semapv:UnspecifiedMatching +OMIM:617868 NAF1 skos:exactMatch hgnc.symbol:NAF1 semapv:UnspecifiedMatching OMIM:617868 NAF1 skos:exactMatch ncbigene:92345 semapv:UnspecifiedMatching -OMIM:617869 NKX1-1 skos:exactMatch hgnc:NKX1-1 semapv:UnspecifiedMatching +OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:24975 semapv:UnspecifiedMatching +OMIM:617869 NKX1-1 skos:exactMatch hgnc.symbol:NKX1-1 semapv:UnspecifiedMatching OMIM:617869 NKX1-1 skos:exactMatch ncbigene:54729 semapv:UnspecifiedMatching -OMIM:617870 CEP350 skos:exactMatch hgnc:CEP350 semapv:UnspecifiedMatching +OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:24238 semapv:UnspecifiedMatching +OMIM:617870 CEP350 skos:exactMatch hgnc.symbol:CEP350 semapv:UnspecifiedMatching OMIM:617870 CEP350 skos:exactMatch ncbigene:9857 semapv:UnspecifiedMatching -OMIM:617876 RNU7-1 skos:exactMatch hgnc:RNU7-1 semapv:UnspecifiedMatching +OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:34033 semapv:UnspecifiedMatching +OMIM:617876 RNU7-1 skos:exactMatch hgnc.symbol:RNU7-1 semapv:UnspecifiedMatching OMIM:617876 RNU7-1 skos:exactMatch ncbigene:100147744 semapv:UnspecifiedMatching -OMIM:617878 TUBA3D skos:exactMatch hgnc:TUBA3D semapv:UnspecifiedMatching +OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:24071 semapv:UnspecifiedMatching +OMIM:617878 TUBA3D skos:exactMatch hgnc.symbol:TUBA3D semapv:UnspecifiedMatching OMIM:617878 TUBA3D skos:exactMatch ncbigene:113457 semapv:UnspecifiedMatching -OMIM:617880 POC5 skos:exactMatch hgnc:POC5 semapv:UnspecifiedMatching +OMIM:617880 POC5 skos:exactMatch hgnc.symbol:26658 semapv:UnspecifiedMatching +OMIM:617880 POC5 skos:exactMatch hgnc.symbol:POC5 semapv:UnspecifiedMatching OMIM:617880 POC5 skos:exactMatch ncbigene:134359 semapv:UnspecifiedMatching -OMIM:617881 C4ORF54 skos:exactMatch hgnc:C4orf54 semapv:UnspecifiedMatching +OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:27741 semapv:UnspecifiedMatching +OMIM:617881 C4ORF54 skos:exactMatch hgnc.symbol:C4orf54 semapv:UnspecifiedMatching OMIM:617881 C4ORF54 skos:exactMatch ncbigene:285556 semapv:UnspecifiedMatching -OMIM:617884 HDGFL2 skos:exactMatch hgnc:HDGFL2 semapv:UnspecifiedMatching +OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:14680 semapv:UnspecifiedMatching +OMIM:617884 HDGFL2 skos:exactMatch hgnc.symbol:HDGFL2 semapv:UnspecifiedMatching OMIM:617884 HDGFL2 skos:exactMatch ncbigene:84717 semapv:UnspecifiedMatching -OMIM:617886 ZNF512B skos:exactMatch hgnc:ZNF512B semapv:UnspecifiedMatching +OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:29212 semapv:UnspecifiedMatching +OMIM:617886 ZNF512B skos:exactMatch hgnc.symbol:ZNF512B semapv:UnspecifiedMatching OMIM:617886 ZNF512B skos:exactMatch ncbigene:57473 semapv:UnspecifiedMatching -OMIM:617887 AGMAT skos:exactMatch hgnc:AGMAT semapv:UnspecifiedMatching +OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:18407 semapv:UnspecifiedMatching +OMIM:617887 AGMAT skos:exactMatch hgnc.symbol:AGMAT semapv:UnspecifiedMatching OMIM:617887 AGMAT skos:exactMatch ncbigene:79814 semapv:UnspecifiedMatching -OMIM:617888 ZNF580 skos:exactMatch hgnc:ZNF580 semapv:UnspecifiedMatching +OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:29473 semapv:UnspecifiedMatching +OMIM:617888 ZNF580 skos:exactMatch hgnc.symbol:ZNF580 semapv:UnspecifiedMatching OMIM:617888 ZNF580 skos:exactMatch ncbigene:51157 semapv:UnspecifiedMatching -OMIM:617889 PYROXD2 skos:exactMatch hgnc:PYROXD2 semapv:UnspecifiedMatching +OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:23517 semapv:UnspecifiedMatching +OMIM:617889 PYROXD2 skos:exactMatch hgnc.symbol:PYROXD2 semapv:UnspecifiedMatching OMIM:617889 PYROXD2 skos:exactMatch ncbigene:84795 semapv:UnspecifiedMatching -OMIM:617890 ZNF664 skos:exactMatch hgnc:ZNF664 semapv:UnspecifiedMatching +OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:25406 semapv:UnspecifiedMatching +OMIM:617890 ZNF664 skos:exactMatch hgnc.symbol:ZNF664 semapv:UnspecifiedMatching OMIM:617890 ZNF664 skos:exactMatch ncbigene:144348 semapv:UnspecifiedMatching -OMIM:617891 ZNF655 skos:exactMatch hgnc:ZNF655 semapv:UnspecifiedMatching +OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:30899 semapv:UnspecifiedMatching +OMIM:617891 ZNF655 skos:exactMatch hgnc.symbol:ZNF655 semapv:UnspecifiedMatching OMIM:617891 ZNF655 skos:exactMatch ncbigene:79027 semapv:UnspecifiedMatching +OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch Orphanet:803 semapv:UnspecifiedMatching OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch UMLS:C4693523 semapv:UnspecifiedMatching -OMIM:617892 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch orphanet.ordo:803 semapv:UnspecifiedMatching -OMIM:617893 RPL36 skos:exactMatch hgnc:RPL36 semapv:UnspecifiedMatching +OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:13631 semapv:UnspecifiedMatching +OMIM:617893 RPL36 skos:exactMatch hgnc.symbol:RPL36 semapv:UnspecifiedMatching OMIM:617893 RPL36 skos:exactMatch ncbigene:25873 semapv:UnspecifiedMatching -OMIM:617894 TMEM50B skos:exactMatch hgnc:TMEM50B semapv:UnspecifiedMatching +OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:1280 semapv:UnspecifiedMatching +OMIM:617894 TMEM50B skos:exactMatch hgnc.symbol:TMEM50B semapv:UnspecifiedMatching OMIM:617894 TMEM50B skos:exactMatch ncbigene:757 semapv:UnspecifiedMatching -OMIM:617896 ZIC5 skos:exactMatch hgnc:ZIC5 semapv:UnspecifiedMatching +OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:20322 semapv:UnspecifiedMatching +OMIM:617896 ZIC5 skos:exactMatch hgnc.symbol:ZIC5 semapv:UnspecifiedMatching OMIM:617896 ZIC5 skos:exactMatch ncbigene:85416 semapv:UnspecifiedMatching -OMIM:617897 CSKMT skos:exactMatch hgnc:CSKMT semapv:UnspecifiedMatching +OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:33113 semapv:UnspecifiedMatching +OMIM:617897 CSKMT skos:exactMatch hgnc.symbol:CSKMT semapv:UnspecifiedMatching OMIM:617897 CSKMT skos:exactMatch ncbigene:751071 semapv:UnspecifiedMatching -OMIM:617901 DEXI skos:exactMatch hgnc:DEXI semapv:UnspecifiedMatching +OMIM:617901 DEXI skos:exactMatch hgnc.symbol:13267 semapv:UnspecifiedMatching +OMIM:617901 DEXI skos:exactMatch hgnc.symbol:DEXI semapv:UnspecifiedMatching OMIM:617901 DEXI skos:exactMatch ncbigene:28955 semapv:UnspecifiedMatching -OMIM:617902 LGALSL skos:exactMatch hgnc:LGALSL semapv:UnspecifiedMatching +OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:25012 semapv:UnspecifiedMatching +OMIM:617902 LGALSL skos:exactMatch hgnc.symbol:LGALSL semapv:UnspecifiedMatching OMIM:617902 LGALSL skos:exactMatch ncbigene:29094 semapv:UnspecifiedMatching +OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch UMLS:C4693550 semapv:UnspecifiedMatching -OMIM:617904 developmental and epileptic encephalopathy 59 skos:exactMatch orphanet.ordo:3095 semapv:UnspecifiedMatching -OMIM:617905 HILPDA skos:exactMatch hgnc:HILPDA semapv:UnspecifiedMatching +OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:28859 semapv:UnspecifiedMatching +OMIM:617905 HILPDA skos:exactMatch hgnc.symbol:HILPDA semapv:UnspecifiedMatching OMIM:617905 HILPDA skos:exactMatch ncbigene:29923 semapv:UnspecifiedMatching -OMIM:617906 CFAP20 skos:exactMatch hgnc:CFAP20 semapv:UnspecifiedMatching +OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:29523 semapv:UnspecifiedMatching +OMIM:617906 CFAP20 skos:exactMatch hgnc.symbol:CFAP20 semapv:UnspecifiedMatching OMIM:617906 CFAP20 skos:exactMatch ncbigene:29105 semapv:UnspecifiedMatching -OMIM:617908 ZNF473 skos:exactMatch hgnc:ZNF473 semapv:UnspecifiedMatching +OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:23239 semapv:UnspecifiedMatching +OMIM:617908 ZNF473 skos:exactMatch hgnc.symbol:ZNF473 semapv:UnspecifiedMatching OMIM:617908 ZNF473 skos:exactMatch ncbigene:25888 semapv:UnspecifiedMatching -OMIM:617909 LSM10 skos:exactMatch hgnc:LSM10 semapv:UnspecifiedMatching +OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:17562 semapv:UnspecifiedMatching +OMIM:617909 LSM10 skos:exactMatch hgnc.symbol:LSM10 semapv:UnspecifiedMatching OMIM:617909 LSM10 skos:exactMatch ncbigene:84967 semapv:UnspecifiedMatching -OMIM:617910 LSM11 skos:exactMatch hgnc:LSM11 semapv:UnspecifiedMatching +OMIM:617910 LSM11 skos:exactMatch hgnc.symbol:30860 semapv:UnspecifiedMatching +OMIM:617910 LSM11 skos:exactMatch hgnc.symbol:LSM11 semapv:UnspecifiedMatching OMIM:617910 LSM11 skos:exactMatch ncbigene:134353 semapv:UnspecifiedMatching OMIM:617911 diamond-blackfan anemia-like skos:exactMatch UMLS:C4693556 semapv:UnspecifiedMatching OMIM:617913 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch UMLS:C4693567 semapv:UnspecifiedMatching OMIM:617916 neurodegeneration with brain iron accumulation 7 skos:exactMatch UMLS:C4693583 semapv:UnspecifiedMatching OMIM:617917 neurodegeneration with brain iron accumulation 8 skos:exactMatch UMLS:C4693587 semapv:UnspecifiedMatching -OMIM:617918 STRIP1 skos:exactMatch hgnc:STRIP1 semapv:UnspecifiedMatching +OMIM:617918 STRIP1 skos:exactMatch hgnc.symbol:25916 semapv:UnspecifiedMatching +OMIM:617918 STRIP1 skos:exactMatch hgnc.symbol:STRIP1 semapv:UnspecifiedMatching OMIM:617918 STRIP1 skos:exactMatch ncbigene:85369 semapv:UnspecifiedMatching -OMIM:617919 STRIP2 skos:exactMatch hgnc:STRIP2 semapv:UnspecifiedMatching +OMIM:617919 STRIP2 skos:exactMatch hgnc.symbol:22209 semapv:UnspecifiedMatching +OMIM:617919 STRIP2 skos:exactMatch hgnc.symbol:STRIP2 semapv:UnspecifiedMatching OMIM:617919 STRIP2 skos:exactMatch ncbigene:57464 semapv:UnspecifiedMatching OMIM:617921 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch UMLS:C4693609 semapv:UnspecifiedMatching -OMIM:617922 GYPA skos:exactMatch hgnc:GYPA semapv:UnspecifiedMatching +OMIM:617922 GYPA skos:exactMatch hgnc.symbol:4702 semapv:UnspecifiedMatching +OMIM:617922 GYPA skos:exactMatch hgnc.symbol:GYPA semapv:UnspecifiedMatching OMIM:617922 GYPA skos:exactMatch ncbigene:2993 semapv:UnspecifiedMatching -OMIM:617923 GYPB skos:exactMatch hgnc:GYPB semapv:UnspecifiedMatching +OMIM:617923 GYPB skos:exactMatch hgnc.symbol:4703 semapv:UnspecifiedMatching +OMIM:617923 GYPB skos:exactMatch hgnc.symbol:GYPB semapv:UnspecifiedMatching OMIM:617923 GYPB skos:exactMatch ncbigene:2994 semapv:UnspecifiedMatching OMIM:617925 short-rib thoracic dysplasia 20 with polydactyly skos:exactMatch UMLS:C4693616 semapv:UnspecifiedMatching +OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch UMLS:C4693663 semapv:UnspecifiedMatching -OMIM:617929 developmental and epileptic encephalopathy 60 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:617932 RHPN2 skos:exactMatch hgnc:RHPN2 semapv:UnspecifiedMatching +OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:19974 semapv:UnspecifiedMatching +OMIM:617932 RHPN2 skos:exactMatch hgnc.symbol:RHPN2 semapv:UnspecifiedMatching OMIM:617932 RHPN2 skos:exactMatch ncbigene:85415 semapv:UnspecifiedMatching OMIM:617933 developmental and epileptic encephalopathy 61 skos:exactMatch UMLS:C4693688 semapv:UnspecifiedMatching -OMIM:617934 AEBP2 skos:exactMatch hgnc:AEBP2 semapv:UnspecifiedMatching +OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:24051 semapv:UnspecifiedMatching +OMIM:617934 AEBP2 skos:exactMatch hgnc.symbol:AEBP2 semapv:UnspecifiedMatching OMIM:617934 AEBP2 skos:exactMatch ncbigene:121536 semapv:UnspecifiedMatching OMIM:617935 epilepsy, familial focal, with variable foci 4 skos:exactMatch UMLS:C4693694 semapv:UnspecifiedMatching +OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 semapv:UnspecifiedMatching OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C0268379 semapv:UnspecifiedMatching OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1283400 semapv:UnspecifiedMatching OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch UMLS:C1867467 semapv:UnspecifiedMatching -OMIM:617936 butyrylcholinesterase deficiency skos:exactMatch orphanet.ordo:132 semapv:UnspecifiedMatching -OMIM:617937 RBM11 skos:exactMatch hgnc:RBM11 semapv:UnspecifiedMatching +OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:9897 semapv:UnspecifiedMatching +OMIM:617937 RBM11 skos:exactMatch hgnc.symbol:RBM11 semapv:UnspecifiedMatching OMIM:617937 RBM11 skos:exactMatch ncbigene:54033 semapv:UnspecifiedMatching +OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch UMLS:C4693699 semapv:UnspecifiedMatching -OMIM:617938 developmental and epileptic encephalopathy 62 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:617939 ZFP69 skos:exactMatch hgnc:ZFP69 semapv:UnspecifiedMatching +OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:24708 semapv:UnspecifiedMatching +OMIM:617939 ZFP69 skos:exactMatch hgnc.symbol:ZFP69 semapv:UnspecifiedMatching OMIM:617939 ZFP69 skos:exactMatch ncbigene:339559 semapv:UnspecifiedMatching -OMIM:617940 PLEKHG3 skos:exactMatch hgnc:PLEKHG3 semapv:UnspecifiedMatching +OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:20364 semapv:UnspecifiedMatching +OMIM:617940 PLEKHG3 skos:exactMatch hgnc.symbol:PLEKHG3 semapv:UnspecifiedMatching OMIM:617940 PLEKHG3 skos:exactMatch ncbigene:26030 semapv:UnspecifiedMatching OMIM:617942 ABHD17A skos:exactMatch UMLS:C1825237 semapv:UnspecifiedMatching -OMIM:617942 ABHD17A skos:exactMatch hgnc:ABHD17A semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:28756 semapv:UnspecifiedMatching +OMIM:617942 ABHD17A skos:exactMatch hgnc.symbol:ABHD17A semapv:UnspecifiedMatching OMIM:617942 ABHD17A skos:exactMatch ncbigene:81926 semapv:UnspecifiedMatching OMIM:617943 ABHD17B skos:exactMatch UMLS:C1428366 semapv:UnspecifiedMatching -OMIM:617943 ABHD17B skos:exactMatch hgnc:ABHD17B semapv:UnspecifiedMatching +OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:24278 semapv:UnspecifiedMatching +OMIM:617943 ABHD17B skos:exactMatch hgnc.symbol:ABHD17B semapv:UnspecifiedMatching OMIM:617943 ABHD17B skos:exactMatch ncbigene:51104 semapv:UnspecifiedMatching OMIM:617944 ABHD17C skos:exactMatch UMLS:C3541169 semapv:UnspecifiedMatching -OMIM:617944 ABHD17C skos:exactMatch hgnc:ABHD17C semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:26925 semapv:UnspecifiedMatching +OMIM:617944 ABHD17C skos:exactMatch hgnc.symbol:ABHD17C semapv:UnspecifiedMatching OMIM:617944 ABHD17C skos:exactMatch ncbigene:58489 semapv:UnspecifiedMatching -OMIM:617945 BTBD8 skos:exactMatch hgnc:BTBD8 semapv:UnspecifiedMatching +OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:21019 semapv:UnspecifiedMatching +OMIM:617945 BTBD8 skos:exactMatch hgnc.symbol:BTBD8 semapv:UnspecifiedMatching OMIM:617945 BTBD8 skos:exactMatch ncbigene:284697 semapv:UnspecifiedMatching OMIM:617946 ERGIC1 skos:exactMatch UMLS:C1825061 semapv:UnspecifiedMatching OMIM:617946 ERGIC1 skos:exactMatch UMLS:C5435650 semapv:UnspecifiedMatching -OMIM:617946 ERGIC1 skos:exactMatch hgnc:ERGIC1 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:29205 semapv:UnspecifiedMatching +OMIM:617946 ERGIC1 skos:exactMatch hgnc.symbol:ERGIC1 semapv:UnspecifiedMatching OMIM:617946 ERGIC1 skos:exactMatch ncbigene:57222 semapv:UnspecifiedMatching -OMIM:617947 WDR74 skos:exactMatch hgnc:WDR74 semapv:UnspecifiedMatching +OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:25529 semapv:UnspecifiedMatching +OMIM:617947 WDR74 skos:exactMatch hgnc.symbol:WDR74 semapv:UnspecifiedMatching OMIM:617947 WDR74 skos:exactMatch ncbigene:54663 semapv:UnspecifiedMatching +OMIM:617948 elliptocytosis 3 skos:exactMatch Orphanet:288 semapv:UnspecifiedMatching OMIM:617948 elliptocytosis 3 skos:exactMatch UMLS:C1866810 semapv:UnspecifiedMatching -OMIM:617948 elliptocytosis 3 skos:exactMatch orphanet.ordo:288 semapv:UnspecifiedMatching -OMIM:617949 CFAP69 skos:exactMatch hgnc:CFAP69 semapv:UnspecifiedMatching +OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:26107 semapv:UnspecifiedMatching +OMIM:617949 CFAP69 skos:exactMatch hgnc.symbol:CFAP69 semapv:UnspecifiedMatching OMIM:617949 CFAP69 skos:exactMatch ncbigene:79846 semapv:UnspecifiedMatching -OMIM:617957 LRRIQ3 skos:exactMatch hgnc:LRRIQ3 semapv:UnspecifiedMatching +OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:28318 semapv:UnspecifiedMatching +OMIM:617957 LRRIQ3 skos:exactMatch hgnc.symbol:LRRIQ3 semapv:UnspecifiedMatching OMIM:617957 LRRIQ3 skos:exactMatch ncbigene:127255 semapv:UnspecifiedMatching -OMIM:617958 ICE1 skos:exactMatch hgnc:ICE1 semapv:UnspecifiedMatching +OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:29154 semapv:UnspecifiedMatching +OMIM:617958 ICE1 skos:exactMatch hgnc.symbol:ICE1 semapv:UnspecifiedMatching OMIM:617958 ICE1 skos:exactMatch ncbigene:23379 semapv:UnspecifiedMatching -OMIM:617962 ZNF827 skos:exactMatch hgnc:ZNF827 semapv:UnspecifiedMatching +OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:27193 semapv:UnspecifiedMatching +OMIM:617962 ZNF827 skos:exactMatch hgnc.symbol:ZNF827 semapv:UnspecifiedMatching OMIM:617962 ZNF827 skos:exactMatch ncbigene:152485 semapv:UnspecifiedMatching -OMIM:617963 TDRD9 skos:exactMatch hgnc:TDRD9 semapv:UnspecifiedMatching +OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:20122 semapv:UnspecifiedMatching +OMIM:617963 TDRD9 skos:exactMatch hgnc.symbol:TDRD9 semapv:UnspecifiedMatching OMIM:617963 TDRD9 skos:exactMatch ncbigene:122402 semapv:UnspecifiedMatching -OMIM:617968 WDR63 skos:exactMatch hgnc:DNAI3 semapv:UnspecifiedMatching +OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:30711 semapv:UnspecifiedMatching +OMIM:617968 WDR63 skos:exactMatch hgnc.symbol:DNAI3 semapv:UnspecifiedMatching OMIM:617968 WDR63 skos:exactMatch ncbigene:126820 semapv:UnspecifiedMatching -OMIM:617969 CCDC63 skos:exactMatch hgnc:CCDC63 semapv:UnspecifiedMatching +OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:26669 semapv:UnspecifiedMatching +OMIM:617969 CCDC63 skos:exactMatch hgnc.symbol:CCDC63 semapv:UnspecifiedMatching OMIM:617969 CCDC63 skos:exactMatch ncbigene:160762 semapv:UnspecifiedMatching -OMIM:617972 ZDHHC20 skos:exactMatch hgnc:ZDHHC20 semapv:UnspecifiedMatching +OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:20749 semapv:UnspecifiedMatching +OMIM:617972 ZDHHC20 skos:exactMatch hgnc.symbol:ZDHHC20 semapv:UnspecifiedMatching OMIM:617972 ZDHHC20 skos:exactMatch ncbigene:253832 semapv:UnspecifiedMatching -OMIM:617975 FAM210A skos:exactMatch hgnc:FAM210A semapv:UnspecifiedMatching +OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:28346 semapv:UnspecifiedMatching +OMIM:617975 FAM210A skos:exactMatch hgnc.symbol:FAM210A semapv:UnspecifiedMatching OMIM:617975 FAM210A skos:exactMatch ncbigene:125228 semapv:UnspecifiedMatching OMIM:617976 developmental and epileptic encephalopathy 63 skos:exactMatch UMLS:C4693810 semapv:UnspecifiedMatching -OMIM:617978 CYRIB skos:exactMatch hgnc:CYRIB semapv:UnspecifiedMatching +OMIM:617978 CYRIB skos:exactMatch hgnc.symbol:25216 semapv:UnspecifiedMatching +OMIM:617978 CYRIB skos:exactMatch hgnc.symbol:CYRIB semapv:UnspecifiedMatching OMIM:617978 CYRIB skos:exactMatch ncbigene:51571 semapv:UnspecifiedMatching OMIM:617979 long noncoding RNA near acod1 skos:exactMatch ncbigene:105370268 semapv:UnspecifiedMatching -OMIM:617986 LDLRAD3 skos:exactMatch hgnc:LDLRAD3 semapv:UnspecifiedMatching +OMIM:617986 LDLRAD3 skos:exactMatch hgnc.symbol:27046 semapv:UnspecifiedMatching +OMIM:617986 LDLRAD3 skos:exactMatch hgnc.symbol:LDLRAD3 semapv:UnspecifiedMatching OMIM:617986 LDLRAD3 skos:exactMatch ncbigene:143458 semapv:UnspecifiedMatching -OMIM:617987 METTL13 skos:exactMatch hgnc:METTL13 semapv:UnspecifiedMatching +OMIM:617987 METTL13 skos:exactMatch hgnc.symbol:24248 semapv:UnspecifiedMatching +OMIM:617987 METTL13 skos:exactMatch hgnc.symbol:METTL13 semapv:UnspecifiedMatching OMIM:617987 METTL13 skos:exactMatch ncbigene:51603 semapv:UnspecifiedMatching -OMIM:617989 NAA30 skos:exactMatch hgnc:NAA30 semapv:UnspecifiedMatching +OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:19844 semapv:UnspecifiedMatching +OMIM:617989 NAA30 skos:exactMatch hgnc.symbol:NAA30 semapv:UnspecifiedMatching OMIM:617989 NAA30 skos:exactMatch ncbigene:122830 semapv:UnspecifiedMatching -OMIM:617990 NAA38 skos:exactMatch hgnc:NAA38 semapv:UnspecifiedMatching +OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:28212 semapv:UnspecifiedMatching +OMIM:617990 NAA38 skos:exactMatch hgnc.symbol:NAA38 semapv:UnspecifiedMatching OMIM:617990 NAA38 skos:exactMatch ncbigene:84316 semapv:UnspecifiedMatching +OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch UMLS:C4693863 semapv:UnspecifiedMatching -OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch orphanet.ordo:306661 semapv:UnspecifiedMatching +OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch Orphanet:306661 semapv:UnspecifiedMatching OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch UMLS:C4693864 semapv:UnspecifiedMatching -OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch orphanet.ordo:306661 semapv:UnspecifiedMatching OMIM:617996 oocyte/zygote/embryo maturation arrest 5 skos:exactMatch UMLS:C4693865 semapv:UnspecifiedMatching -OMIM:617997 RCCD1 skos:exactMatch hgnc:RCCD1 semapv:UnspecifiedMatching +OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:30457 semapv:UnspecifiedMatching +OMIM:617997 RCCD1 skos:exactMatch hgnc.symbol:RCCD1 semapv:UnspecifiedMatching OMIM:617997 RCCD1 skos:exactMatch ncbigene:91433 semapv:UnspecifiedMatching -OMIM:617998 GAREM1 skos:exactMatch hgnc:GAREM1 semapv:UnspecifiedMatching +OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:26136 semapv:UnspecifiedMatching +OMIM:617998 GAREM1 skos:exactMatch hgnc.symbol:GAREM1 semapv:UnspecifiedMatching OMIM:617998 GAREM1 skos:exactMatch ncbigene:64762 semapv:UnspecifiedMatching -OMIM:617999 GAREM2 skos:exactMatch hgnc:GAREM2 semapv:UnspecifiedMatching +OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:27172 semapv:UnspecifiedMatching +OMIM:617999 GAREM2 skos:exactMatch hgnc.symbol:GAREM2 semapv:UnspecifiedMatching OMIM:617999 GAREM2 skos:exactMatch ncbigene:150946 semapv:UnspecifiedMatching -OMIM:618001 RELCH skos:exactMatch hgnc:RELCH semapv:UnspecifiedMatching +OMIM:618001 RELCH skos:exactMatch hgnc.symbol:29289 semapv:UnspecifiedMatching +OMIM:618001 RELCH skos:exactMatch hgnc.symbol:RELCH semapv:UnspecifiedMatching OMIM:618001 RELCH skos:exactMatch ncbigene:57614 semapv:UnspecifiedMatching -OMIM:618002 MAST4 skos:exactMatch hgnc:MAST4 semapv:UnspecifiedMatching +OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:19037 semapv:UnspecifiedMatching +OMIM:618002 MAST4 skos:exactMatch hgnc.symbol:MAST4 semapv:UnspecifiedMatching OMIM:618002 MAST4 skos:exactMatch ncbigene:375449 semapv:UnspecifiedMatching OMIM:618004 developmental and epileptic encephalopathy 64 skos:exactMatch UMLS:C4693899 semapv:UnspecifiedMatching OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 skos:exactMatch UMLS:C4693905 semapv:UnspecifiedMatching +OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch UMLS:C4693925 semapv:UnspecifiedMatching -OMIM:618008 developmental and epileptic encephalopathy 65 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch UMLS:C5231400 semapv:UnspecifiedMatching -OMIM:618009 intellectual developmental disorder, autosomal dominant 61 skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 skos:exactMatch UMLS:C4747891 semapv:UnspecifiedMatching -OMIM:618016 RNPC3 skos:exactMatch hgnc:RNPC3 semapv:UnspecifiedMatching +OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:18666 semapv:UnspecifiedMatching +OMIM:618016 RNPC3 skos:exactMatch hgnc.symbol:RNPC3 semapv:UnspecifiedMatching OMIM:618016 RNPC3 skos:exactMatch ncbigene:55599 semapv:UnspecifiedMatching -OMIM:618017 ANKRD16 skos:exactMatch hgnc:ANKRD16 semapv:UnspecifiedMatching +OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:23471 semapv:UnspecifiedMatching +OMIM:618017 ANKRD16 skos:exactMatch hgnc.symbol:ANKRD16 semapv:UnspecifiedMatching OMIM:618017 ANKRD16 skos:exactMatch ncbigene:54522 semapv:UnspecifiedMatching -OMIM:618020 KLHL22 skos:exactMatch hgnc:KLHL22 semapv:UnspecifiedMatching +OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:25888 semapv:UnspecifiedMatching +OMIM:618020 KLHL22 skos:exactMatch hgnc.symbol:KLHL22 semapv:UnspecifiedMatching OMIM:618020 KLHL22 skos:exactMatch ncbigene:84861 semapv:UnspecifiedMatching -OMIM:618023 NOTCH2NLA skos:exactMatch hgnc:NOTCH2NLA semapv:UnspecifiedMatching +OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:31862 semapv:UnspecifiedMatching +OMIM:618023 NOTCH2NLA skos:exactMatch hgnc.symbol:NOTCH2NLA semapv:UnspecifiedMatching OMIM:618023 NOTCH2NLA skos:exactMatch ncbigene:388677 semapv:UnspecifiedMatching -OMIM:618024 NOTCH2NLB skos:exactMatch hgnc:NOTCH2NLB semapv:UnspecifiedMatching +OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:53923 semapv:UnspecifiedMatching +OMIM:618024 NOTCH2NLB skos:exactMatch hgnc.symbol:NOTCH2NLB semapv:UnspecifiedMatching OMIM:618024 NOTCH2NLB skos:exactMatch ncbigene:100996763 semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C1863843 semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C4747952 semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching -OMIM:618025 NOTCH2NLC skos:exactMatch hgnc:NOTCH2NLC semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:53924 semapv:UnspecifiedMatching +OMIM:618025 NOTCH2NLC skos:exactMatch hgnc.symbol:NOTCH2NLC semapv:UnspecifiedMatching OMIM:618025 NOTCH2NLC skos:exactMatch ncbigene:100996717 semapv:UnspecifiedMatching -OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc:NOTCH2NLR semapv:UnspecifiedMatching -OMIM:618028 SHLD1 skos:exactMatch hgnc:SHLD1 semapv:UnspecifiedMatching +OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:53925 semapv:UnspecifiedMatching +OMIM:618026 notch2 n-terminal-like r skos:exactMatch hgnc.symbol:NOTCH2NLR semapv:UnspecifiedMatching +OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:26318 semapv:UnspecifiedMatching +OMIM:618028 SHLD1 skos:exactMatch hgnc.symbol:SHLD1 semapv:UnspecifiedMatching OMIM:618028 SHLD1 skos:exactMatch ncbigene:149840 semapv:UnspecifiedMatching -OMIM:618029 SHLD2 skos:exactMatch hgnc:SHLD2 semapv:UnspecifiedMatching +OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:28773 semapv:UnspecifiedMatching +OMIM:618029 SHLD2 skos:exactMatch hgnc.symbol:SHLD2 semapv:UnspecifiedMatching OMIM:618029 SHLD2 skos:exactMatch ncbigene:54537 semapv:UnspecifiedMatching -OMIM:618030 SHLD3 skos:exactMatch hgnc:SHLD3 semapv:UnspecifiedMatching +OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:53826 semapv:UnspecifiedMatching +OMIM:618030 SHLD3 skos:exactMatch hgnc.symbol:SHLD3 semapv:UnspecifiedMatching OMIM:618030 SHLD3 skos:exactMatch ncbigene:112441434 semapv:UnspecifiedMatching -OMIM:618032 ZNF768 skos:exactMatch hgnc:ZNF768 semapv:UnspecifiedMatching +OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:26273 semapv:UnspecifiedMatching +OMIM:618032 ZNF768 skos:exactMatch hgnc.symbol:ZNF768 semapv:UnspecifiedMatching OMIM:618032 ZNF768 skos:exactMatch ncbigene:79724 semapv:UnspecifiedMatching -OMIM:618033 ZNF689 skos:exactMatch hgnc:ZNF689 semapv:UnspecifiedMatching +OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:25173 semapv:UnspecifiedMatching +OMIM:618033 ZNF689 skos:exactMatch hgnc.symbol:ZNF689 semapv:UnspecifiedMatching OMIM:618033 ZNF689 skos:exactMatch ncbigene:115509 semapv:UnspecifiedMatching -OMIM:618034 SLC43A3 skos:exactMatch hgnc:SLC43A3 semapv:UnspecifiedMatching +OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:17466 semapv:UnspecifiedMatching +OMIM:618034 SLC43A3 skos:exactMatch hgnc.symbol:SLC43A3 semapv:UnspecifiedMatching OMIM:618034 SLC43A3 skos:exactMatch ncbigene:29015 semapv:UnspecifiedMatching -OMIM:618035 TBC1D9 skos:exactMatch hgnc:TBC1D9 semapv:UnspecifiedMatching +OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:21710 semapv:UnspecifiedMatching +OMIM:618035 TBC1D9 skos:exactMatch hgnc.symbol:TBC1D9 semapv:UnspecifiedMatching OMIM:618035 TBC1D9 skos:exactMatch ncbigene:23158 semapv:UnspecifiedMatching -OMIM:618037 ZNF536 skos:exactMatch hgnc:ZNF536 semapv:UnspecifiedMatching +OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:29025 semapv:UnspecifiedMatching +OMIM:618037 ZNF536 skos:exactMatch hgnc.symbol:ZNF536 semapv:UnspecifiedMatching OMIM:618037 ZNF536 skos:exactMatch ncbigene:9745 semapv:UnspecifiedMatching -OMIM:618038 SHOC1 skos:exactMatch hgnc:SHOC1 semapv:UnspecifiedMatching +OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:26535 semapv:UnspecifiedMatching +OMIM:618038 SHOC1 skos:exactMatch hgnc.symbol:SHOC1 semapv:UnspecifiedMatching OMIM:618038 SHOC1 skos:exactMatch ncbigene:158401 semapv:UnspecifiedMatching -OMIM:618039 TBC1D9B skos:exactMatch hgnc:TBC1D9B semapv:UnspecifiedMatching +OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:29097 semapv:UnspecifiedMatching +OMIM:618039 TBC1D9B skos:exactMatch hgnc.symbol:TBC1D9B semapv:UnspecifiedMatching OMIM:618039 TBC1D9B skos:exactMatch ncbigene:23061 semapv:UnspecifiedMatching -OMIM:618040 DGCR5 skos:exactMatch hgnc:DGCR5 semapv:UnspecifiedMatching +OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:16757 semapv:UnspecifiedMatching +OMIM:618040 DGCR5 skos:exactMatch hgnc.symbol:DGCR5 semapv:UnspecifiedMatching OMIM:618040 DGCR5 skos:exactMatch ncbigene:26220 semapv:UnspecifiedMatching -OMIM:618041 PURG skos:exactMatch hgnc:PURG semapv:UnspecifiedMatching +OMIM:618041 PURG skos:exactMatch hgnc.symbol:17930 semapv:UnspecifiedMatching +OMIM:618041 PURG skos:exactMatch hgnc.symbol:PURG semapv:UnspecifiedMatching OMIM:618041 PURG skos:exactMatch ncbigene:29942 semapv:UnspecifiedMatching -OMIM:618043 POU6F1 skos:exactMatch hgnc:POU6F1 semapv:UnspecifiedMatching +OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:9224 semapv:UnspecifiedMatching +OMIM:618043 POU6F1 skos:exactMatch hgnc.symbol:POU6F1 semapv:UnspecifiedMatching OMIM:618043 POU6F1 skos:exactMatch ncbigene:5463 semapv:UnspecifiedMatching -OMIM:618044 C2CD5 skos:exactMatch hgnc:C2CD5 semapv:UnspecifiedMatching +OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:29062 semapv:UnspecifiedMatching +OMIM:618044 C2CD5 skos:exactMatch hgnc.symbol:C2CD5 semapv:UnspecifiedMatching OMIM:618044 C2CD5 skos:exactMatch ncbigene:9847 semapv:UnspecifiedMatching -OMIM:618045 DDIAS skos:exactMatch hgnc:DDIAS semapv:UnspecifiedMatching +OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:26351 semapv:UnspecifiedMatching +OMIM:618045 DDIAS skos:exactMatch hgnc.symbol:DDIAS semapv:UnspecifiedMatching OMIM:618045 DDIAS skos:exactMatch ncbigene:220042 semapv:UnspecifiedMatching -OMIM:618046 OR1A1 skos:exactMatch hgnc:OR1A1 semapv:UnspecifiedMatching +OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:8179 semapv:UnspecifiedMatching +OMIM:618046 OR1A1 skos:exactMatch hgnc.symbol:OR1A1 semapv:UnspecifiedMatching OMIM:618046 OR1A1 skos:exactMatch ncbigene:8383 semapv:UnspecifiedMatching -OMIM:618047 OR1A2 skos:exactMatch hgnc:OR1A2 semapv:UnspecifiedMatching +OMIM:618047 OR1A2 skos:exactMatch hgnc.symbol:8180 semapv:UnspecifiedMatching +OMIM:618047 OR1A2 skos:exactMatch hgnc.symbol:OR1A2 semapv:UnspecifiedMatching OMIM:618047 OR1A2 skos:exactMatch ncbigene:26189 semapv:UnspecifiedMatching -OMIM:618051 INAVA skos:exactMatch hgnc:INAVA semapv:UnspecifiedMatching +OMIM:618051 INAVA skos:exactMatch hgnc.symbol:25599 semapv:UnspecifiedMatching +OMIM:618051 INAVA skos:exactMatch hgnc.symbol:INAVA semapv:UnspecifiedMatching OMIM:618051 INAVA skos:exactMatch ncbigene:55765 semapv:UnspecifiedMatching -OMIM:618053 ARLNC1 skos:exactMatch hgnc:ARLNC1 semapv:UnspecifiedMatching +OMIM:618053 ARLNC1 skos:exactMatch hgnc.symbol:53032 semapv:UnspecifiedMatching +OMIM:618053 ARLNC1 skos:exactMatch hgnc.symbol:ARLNC1 semapv:UnspecifiedMatching OMIM:618053 ARLNC1 skos:exactMatch ncbigene:100996425 semapv:UnspecifiedMatching -OMIM:618054 MINAR1 skos:exactMatch hgnc:MINAR1 semapv:UnspecifiedMatching +OMIM:618054 MINAR1 skos:exactMatch hgnc.symbol:29172 semapv:UnspecifiedMatching +OMIM:618054 MINAR1 skos:exactMatch hgnc.symbol:MINAR1 semapv:UnspecifiedMatching OMIM:618054 MINAR1 skos:exactMatch ncbigene:23251 semapv:UnspecifiedMatching -OMIM:618055 CREG1 skos:exactMatch hgnc:CREG1 semapv:UnspecifiedMatching +OMIM:618055 CREG1 skos:exactMatch hgnc.symbol:2351 semapv:UnspecifiedMatching +OMIM:618055 CREG1 skos:exactMatch hgnc.symbol:CREG1 semapv:UnspecifiedMatching OMIM:618055 CREG1 skos:exactMatch ncbigene:8804 semapv:UnspecifiedMatching OMIM:618058 CFAP300 skos:exactMatch UMLS:C1824336 semapv:UnspecifiedMatching OMIM:618058 CFAP300 skos:exactMatch UMLS:C4748052 semapv:UnspecifiedMatching -OMIM:618058 CFAP300 skos:exactMatch hgnc:CFAP300 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch hgnc.symbol:28188 semapv:UnspecifiedMatching +OMIM:618058 CFAP300 skos:exactMatch hgnc.symbol:CFAP300 semapv:UnspecifiedMatching OMIM:618058 CFAP300 skos:exactMatch ncbigene:85016 semapv:UnspecifiedMatching -OMIM:618059 WDR25 skos:exactMatch hgnc:WDR25 semapv:UnspecifiedMatching +OMIM:618059 WDR25 skos:exactMatch hgnc.symbol:21064 semapv:UnspecifiedMatching +OMIM:618059 WDR25 skos:exactMatch hgnc.symbol:WDR25 semapv:UnspecifiedMatching OMIM:618059 WDR25 skos:exactMatch ncbigene:79446 semapv:UnspecifiedMatching -OMIM:618062 CRISP3 skos:exactMatch hgnc:CRISP3 semapv:UnspecifiedMatching +OMIM:618062 CRISP3 skos:exactMatch hgnc.symbol:16904 semapv:UnspecifiedMatching +OMIM:618062 CRISP3 skos:exactMatch hgnc.symbol:CRISP3 semapv:UnspecifiedMatching OMIM:618062 CRISP3 skos:exactMatch ncbigene:10321 semapv:UnspecifiedMatching -OMIM:618064 COX16 skos:exactMatch hgnc:COX16 semapv:UnspecifiedMatching +OMIM:618064 COX16 skos:exactMatch hgnc.symbol:20213 semapv:UnspecifiedMatching +OMIM:618064 COX16 skos:exactMatch hgnc.symbol:COX16 semapv:UnspecifiedMatching OMIM:618064 COX16 skos:exactMatch ncbigene:51241 semapv:UnspecifiedMatching OMIM:618065 pontocerebellar hypoplasia, iia 1d skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching -OMIM:618066 HOXBAS1 skos:exactMatch hgnc:HOXB-AS1 semapv:UnspecifiedMatching +OMIM:618066 HOXBAS1 skos:exactMatch hgnc.symbol:43744 semapv:UnspecifiedMatching +OMIM:618066 HOXBAS1 skos:exactMatch hgnc.symbol:HOXB-AS1 semapv:UnspecifiedMatching OMIM:618066 HOXBAS1 skos:exactMatch ncbigene:100874362 semapv:UnspecifiedMatching OMIM:618067 developmental and epileptic encephalopathy 66 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching -OMIM:618068 SPZ1 skos:exactMatch hgnc:SPZ1 semapv:UnspecifiedMatching +OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:30721 semapv:UnspecifiedMatching +OMIM:618068 SPZ1 skos:exactMatch hgnc.symbol:SPZ1 semapv:UnspecifiedMatching OMIM:618068 SPZ1 skos:exactMatch ncbigene:84654 semapv:UnspecifiedMatching -OMIM:618069 CNOT6L skos:exactMatch hgnc:CNOT6L semapv:UnspecifiedMatching +OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:18042 semapv:UnspecifiedMatching +OMIM:618069 CNOT6L skos:exactMatch hgnc.symbol:CNOT6L semapv:UnspecifiedMatching OMIM:618069 CNOT6L skos:exactMatch ncbigene:246175 semapv:UnspecifiedMatching -OMIM:618070 ATP6V1C2 skos:exactMatch hgnc:ATP6V1C2 semapv:UnspecifiedMatching +OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:18264 semapv:UnspecifiedMatching +OMIM:618070 ATP6V1C2 skos:exactMatch hgnc.symbol:ATP6V1C2 semapv:UnspecifiedMatching OMIM:618070 ATP6V1C2 skos:exactMatch ncbigene:245973 semapv:UnspecifiedMatching -OMIM:618071 ATP6V1G3 skos:exactMatch hgnc:ATP6V1G3 semapv:UnspecifiedMatching +OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:18265 semapv:UnspecifiedMatching +OMIM:618071 ATP6V1G3 skos:exactMatch hgnc.symbol:ATP6V1G3 semapv:UnspecifiedMatching OMIM:618071 ATP6V1G3 skos:exactMatch ncbigene:127124 semapv:UnspecifiedMatching -OMIM:618072 ATP6V0D2 skos:exactMatch hgnc:ATP6V0D2 semapv:UnspecifiedMatching +OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:18266 semapv:UnspecifiedMatching +OMIM:618072 ATP6V0D2 skos:exactMatch hgnc.symbol:ATP6V0D2 semapv:UnspecifiedMatching OMIM:618072 ATP6V0D2 skos:exactMatch ncbigene:245972 semapv:UnspecifiedMatching -OMIM:618073 SAMD12 skos:exactMatch hgnc:SAMD12 semapv:UnspecifiedMatching +OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:31750 semapv:UnspecifiedMatching +OMIM:618073 SAMD12 skos:exactMatch hgnc.symbol:SAMD12 semapv:UnspecifiedMatching OMIM:618073 SAMD12 skos:exactMatch ncbigene:401474 semapv:UnspecifiedMatching OMIM:618074 epilepsy, familial adult myoclonic, 6 skos:exactMatch UMLS:C4748079 semapv:UnspecifiedMatching OMIM:618075 epilepsy, familial adult myoclonic, 7 skos:exactMatch UMLS:C4748080 semapv:UnspecifiedMatching OMIM:618077 inflammatory bowel disease 29 skos:exactMatch UMLS:C4748083 semapv:UnspecifiedMatching -OMIM:618080 WDFY1 skos:exactMatch hgnc:WDFY1 semapv:UnspecifiedMatching +OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:20451 semapv:UnspecifiedMatching +OMIM:618080 WDFY1 skos:exactMatch hgnc.symbol:WDFY1 semapv:UnspecifiedMatching OMIM:618080 WDFY1 skos:exactMatch ncbigene:57590 semapv:UnspecifiedMatching -OMIM:618081 ILDR2 skos:exactMatch hgnc:ILDR2 semapv:UnspecifiedMatching +OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:18131 semapv:UnspecifiedMatching +OMIM:618081 ILDR2 skos:exactMatch hgnc.symbol:ILDR2 semapv:UnspecifiedMatching OMIM:618081 ILDR2 skos:exactMatch ncbigene:387597 semapv:UnspecifiedMatching -OMIM:618082 WDR33 skos:exactMatch hgnc:WDR33 semapv:UnspecifiedMatching +OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:25651 semapv:UnspecifiedMatching +OMIM:618082 WDR33 skos:exactMatch hgnc.symbol:WDR33 semapv:UnspecifiedMatching OMIM:618082 WDR33 skos:exactMatch ncbigene:55339 semapv:UnspecifiedMatching -OMIM:618083 WBP11 skos:exactMatch hgnc:WBP11 semapv:UnspecifiedMatching +OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:16461 semapv:UnspecifiedMatching +OMIM:618083 WBP11 skos:exactMatch hgnc.symbol:WBP11 semapv:UnspecifiedMatching OMIM:618083 WBP11 skos:exactMatch ncbigene:51729 semapv:UnspecifiedMatching -OMIM:618085 PMFBP1 skos:exactMatch hgnc:PMFBP1 semapv:UnspecifiedMatching +OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:17728 semapv:UnspecifiedMatching +OMIM:618085 PMFBP1 skos:exactMatch hgnc.symbol:PMFBP1 semapv:UnspecifiedMatching OMIM:618085 PMFBP1 skos:exactMatch ncbigene:83449 semapv:UnspecifiedMatching OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch UMLS:C4748127 semapv:UnspecifiedMatching -OMIM:618099 MRM1 skos:exactMatch hgnc:MRM1 semapv:UnspecifiedMatching +OMIM:618099 MRM1 skos:exactMatch hgnc.symbol:26202 semapv:UnspecifiedMatching +OMIM:618099 MRM1 skos:exactMatch hgnc.symbol:MRM1 semapv:UnspecifiedMatching OMIM:618099 MRM1 skos:exactMatch ncbigene:79922 semapv:UnspecifiedMatching -OMIM:618100 MPV17L skos:exactMatch hgnc:MPV17L semapv:UnspecifiedMatching +OMIM:618100 MPV17L skos:exactMatch hgnc.symbol:26827 semapv:UnspecifiedMatching +OMIM:618100 MPV17L skos:exactMatch hgnc.symbol:MPV17L semapv:UnspecifiedMatching OMIM:618100 MPV17L skos:exactMatch ncbigene:255027 semapv:UnspecifiedMatching -OMIM:618101 MMP27 skos:exactMatch hgnc:MMP27 semapv:UnspecifiedMatching +OMIM:618101 MMP27 skos:exactMatch hgnc.symbol:14250 semapv:UnspecifiedMatching +OMIM:618101 MMP27 skos:exactMatch hgnc.symbol:MMP27 semapv:UnspecifiedMatching OMIM:618101 MMP27 skos:exactMatch ncbigene:64066 semapv:UnspecifiedMatching -OMIM:618102 SIMC1 skos:exactMatch hgnc:SIMC1 semapv:UnspecifiedMatching +OMIM:618102 SIMC1 skos:exactMatch hgnc.symbol:24779 semapv:UnspecifiedMatching +OMIM:618102 SIMC1 skos:exactMatch hgnc.symbol:SIMC1 semapv:UnspecifiedMatching OMIM:618102 SIMC1 skos:exactMatch ncbigene:375484 semapv:UnspecifiedMatching -OMIM:618104 MMEL1 skos:exactMatch hgnc:MMEL1 semapv:UnspecifiedMatching +OMIM:618104 MMEL1 skos:exactMatch hgnc.symbol:14668 semapv:UnspecifiedMatching +OMIM:618104 MMEL1 skos:exactMatch hgnc.symbol:MMEL1 semapv:UnspecifiedMatching OMIM:618104 MMEL1 skos:exactMatch ncbigene:79258 semapv:UnspecifiedMatching -OMIM:618105 SIGLEC15 skos:exactMatch hgnc:SIGLEC15 semapv:UnspecifiedMatching +OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:27596 semapv:UnspecifiedMatching +OMIM:618105 SIGLEC15 skos:exactMatch hgnc.symbol:SIGLEC15 semapv:UnspecifiedMatching OMIM:618105 SIGLEC15 skos:exactMatch ncbigene:284266 semapv:UnspecifiedMatching OMIM:618108 immunodeficiency 57 with autoinflammation skos:exactMatch UMLS:C4748212 semapv:UnspecifiedMatching +OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch UMLS:C4748219 semapv:UnspecifiedMatching -OMIM:618109 intellectual developmental disorder, autosomal recessive 65 skos:exactMatch orphanet.ordo:88616 semapv:UnspecifiedMatching OMIM:618111 ZFP64 skos:exactMatch UMLS:C1423846 semapv:UnspecifiedMatching -OMIM:618111 ZFP64 skos:exactMatch hgnc:ZFP64 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:15940 semapv:UnspecifiedMatching +OMIM:618111 ZFP64 skos:exactMatch hgnc.symbol:ZFP64 semapv:UnspecifiedMatching OMIM:618111 ZFP64 skos:exactMatch ncbigene:55734 semapv:UnspecifiedMatching +OMIM:618114 liddle syndrome 2 skos:exactMatch Orphanet:526 semapv:UnspecifiedMatching OMIM:618114 liddle syndrome 2 skos:exactMatch UMLS:C4748251 semapv:UnspecifiedMatching -OMIM:618114 liddle syndrome 2 skos:exactMatch orphanet.ordo:526 semapv:UnspecifiedMatching OMIM:618118 EML3 skos:exactMatch UMLS:C1825051 semapv:UnspecifiedMatching -OMIM:618118 EML3 skos:exactMatch hgnc:EML3 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch hgnc.symbol:26666 semapv:UnspecifiedMatching +OMIM:618118 EML3 skos:exactMatch hgnc.symbol:EML3 semapv:UnspecifiedMatching OMIM:618118 EML3 skos:exactMatch ncbigene:256364 semapv:UnspecifiedMatching -OMIM:618119 EML5 skos:exactMatch hgnc:EML5 semapv:UnspecifiedMatching +OMIM:618119 EML5 skos:exactMatch hgnc.symbol:18197 semapv:UnspecifiedMatching +OMIM:618119 EML5 skos:exactMatch hgnc.symbol:EML5 semapv:UnspecifiedMatching OMIM:618119 EML5 skos:exactMatch ncbigene:161436 semapv:UnspecifiedMatching OMIM:618121 ATP5PD skos:exactMatch UMLS:C1412666 semapv:UnspecifiedMatching -OMIM:618121 ATP5PD skos:exactMatch hgnc:ATP5PD semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:845 semapv:UnspecifiedMatching +OMIM:618121 ATP5PD skos:exactMatch hgnc.symbol:ATP5PD semapv:UnspecifiedMatching OMIM:618121 ATP5PD skos:exactMatch ncbigene:10476 semapv:UnspecifiedMatching -OMIM:618122 MTREX skos:exactMatch hgnc:MTREX semapv:UnspecifiedMatching +OMIM:618122 MTREX skos:exactMatch hgnc.symbol:18734 semapv:UnspecifiedMatching +OMIM:618122 MTREX skos:exactMatch hgnc.symbol:MTREX semapv:UnspecifiedMatching OMIM:618122 MTREX skos:exactMatch ncbigene:23517 semapv:UnspecifiedMatching -OMIM:618125 KASH5 skos:exactMatch hgnc:KASH5 semapv:UnspecifiedMatching +OMIM:618125 KASH5 skos:exactMatch hgnc.symbol:26520 semapv:UnspecifiedMatching +OMIM:618125 KASH5 skos:exactMatch hgnc.symbol:KASH5 semapv:UnspecifiedMatching OMIM:618125 KASH5 skos:exactMatch ncbigene:147872 semapv:UnspecifiedMatching -OMIM:618127 COX6B2 skos:exactMatch hgnc:COX6B2 semapv:UnspecifiedMatching +OMIM:618127 COX6B2 skos:exactMatch hgnc.symbol:24380 semapv:UnspecifiedMatching +OMIM:618127 COX6B2 skos:exactMatch hgnc.symbol:COX6B2 semapv:UnspecifiedMatching OMIM:618127 COX6B2 skos:exactMatch ncbigene:125965 semapv:UnspecifiedMatching -OMIM:618128 GDAP2 skos:exactMatch hgnc:GDAP2 semapv:UnspecifiedMatching +OMIM:618128 GDAP2 skos:exactMatch hgnc.symbol:18010 semapv:UnspecifiedMatching +OMIM:618128 GDAP2 skos:exactMatch hgnc.symbol:GDAP2 semapv:UnspecifiedMatching OMIM:618128 GDAP2 skos:exactMatch ncbigene:54834 semapv:UnspecifiedMatching -OMIM:618130 NECAB2 skos:exactMatch hgnc:NECAB2 semapv:UnspecifiedMatching +OMIM:618130 NECAB2 skos:exactMatch hgnc.symbol:23746 semapv:UnspecifiedMatching +OMIM:618130 NECAB2 skos:exactMatch hgnc.symbol:NECAB2 semapv:UnspecifiedMatching OMIM:618130 NECAB2 skos:exactMatch ncbigene:54550 semapv:UnspecifiedMatching -OMIM:618132 SIGLEC14 skos:exactMatch hgnc:SIGLEC14 semapv:UnspecifiedMatching +OMIM:618132 SIGLEC14 skos:exactMatch hgnc.symbol:32926 semapv:UnspecifiedMatching +OMIM:618132 SIGLEC14 skos:exactMatch hgnc.symbol:SIGLEC14 semapv:UnspecifiedMatching OMIM:618132 SIGLEC14 skos:exactMatch ncbigene:100049587 semapv:UnspecifiedMatching -OMIM:618133 NXPE4 skos:exactMatch hgnc:NXPE4 semapv:UnspecifiedMatching +OMIM:618133 NXPE4 skos:exactMatch hgnc.symbol:23117 semapv:UnspecifiedMatching +OMIM:618133 NXPE4 skos:exactMatch hgnc.symbol:NXPE4 semapv:UnspecifiedMatching OMIM:618133 NXPE4 skos:exactMatch ncbigene:54827 semapv:UnspecifiedMatching -OMIM:618134 UTS2B skos:exactMatch hgnc:UTS2B semapv:UnspecifiedMatching +OMIM:618134 UTS2B skos:exactMatch hgnc.symbol:30894 semapv:UnspecifiedMatching +OMIM:618134 UTS2B skos:exactMatch hgnc.symbol:UTS2B semapv:UnspecifiedMatching OMIM:618134 UTS2B skos:exactMatch ncbigene:257313 semapv:UnspecifiedMatching -OMIM:618136 MAD2L1BP skos:exactMatch hgnc:MAD2L1BP semapv:UnspecifiedMatching +OMIM:618136 MAD2L1BP skos:exactMatch hgnc.symbol:21059 semapv:UnspecifiedMatching +OMIM:618136 MAD2L1BP skos:exactMatch hgnc.symbol:MAD2L1BP semapv:UnspecifiedMatching OMIM:618136 MAD2L1BP skos:exactMatch ncbigene:9587 semapv:UnspecifiedMatching -OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc:MIS18A semapv:UnspecifiedMatching +OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc.symbol:1286 semapv:UnspecifiedMatching +OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch hgnc.symbol:MIS18A semapv:UnspecifiedMatching OMIM:618137 mis18 kinetochore protein a: mis18a skos:exactMatch ncbigene:54069 semapv:UnspecifiedMatching -OMIM:618139 MIS18BP1 skos:exactMatch hgnc:MIS18BP1 semapv:UnspecifiedMatching +OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:20190 semapv:UnspecifiedMatching +OMIM:618139 MIS18BP1 skos:exactMatch hgnc.symbol:MIS18BP1 semapv:UnspecifiedMatching OMIM:618139 MIS18BP1 skos:exactMatch ncbigene:55320 semapv:UnspecifiedMatching +OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch Orphanet:2382 semapv:UnspecifiedMatching OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching -OMIM:618141 developmental and epileptic encephalopathy 67 skos:exactMatch orphanet.ordo:2382 semapv:UnspecifiedMatching OMIM:618146 CFAP251 skos:exactMatch UMLS:C1823830 semapv:UnspecifiedMatching OMIM:618146 CFAP251 skos:exactMatch UMLS:C4748395 semapv:UnspecifiedMatching -OMIM:618146 CFAP251 skos:exactMatch hgnc:CFAP251 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:28506 semapv:UnspecifiedMatching +OMIM:618146 CFAP251 skos:exactMatch hgnc.symbol:CFAP251 semapv:UnspecifiedMatching OMIM:618146 CFAP251 skos:exactMatch ncbigene:144406 semapv:UnspecifiedMatching +OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch Orphanet:562538 semapv:UnspecifiedMatching OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch UMLS:C4748387 semapv:UnspecifiedMatching -OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency skos:exactMatch orphanet.ordo:562538 semapv:UnspecifiedMatching +OMIM:618149 orofacial cleft 8 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:618149 orofacial cleft 8 skos:exactMatch UMLS:C1851878 semapv:UnspecifiedMatching -OMIM:618149 orofacial cleft 8 skos:exactMatch orphanet.ordo:199306 semapv:UnspecifiedMatching -OMIM:618151 TSBP1 skos:exactMatch hgnc:TSBP1 semapv:UnspecifiedMatching +OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:13922 semapv:UnspecifiedMatching +OMIM:618151 TSBP1 skos:exactMatch hgnc.symbol:TSBP1 semapv:UnspecifiedMatching OMIM:618151 TSBP1 skos:exactMatch ncbigene:10665 semapv:UnspecifiedMatching +OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch Orphanet:231671 semapv:UnspecifiedMatching OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch UMLS:C4722273 semapv:UnspecifiedMatching -OMIM:618157 isolated growth hormone deficiency, iia 4 skos:exactMatch orphanet.ordo:231671 semapv:UnspecifiedMatching OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch UMLS:C4748428 semapv:UnspecifiedMatching -OMIM:618159 PPP1R21 skos:exactMatch hgnc:PPP1R21 semapv:UnspecifiedMatching +OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:30595 semapv:UnspecifiedMatching +OMIM:618159 PPP1R21 skos:exactMatch hgnc.symbol:PPP1R21 semapv:UnspecifiedMatching OMIM:618159 PPP1R21 skos:exactMatch ncbigene:129285 semapv:UnspecifiedMatching +OMIM:618161 joubert syndrome 35 skos:exactMatch Orphanet:475 semapv:UnspecifiedMatching OMIM:618161 joubert syndrome 35 skos:exactMatch UMLS:C4748442 semapv:UnspecifiedMatching -OMIM:618161 joubert syndrome 35 skos:exactMatch orphanet.ordo:475 semapv:UnspecifiedMatching -OMIM:618163 TMEM94 skos:exactMatch hgnc:TMEM94 semapv:UnspecifiedMatching +OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:28983 semapv:UnspecifiedMatching +OMIM:618163 TMEM94 skos:exactMatch hgnc.symbol:TMEM94 semapv:UnspecifiedMatching OMIM:618163 TMEM94 skos:exactMatch ncbigene:9772 semapv:UnspecifiedMatching OMIM:618164 cardiac, facial, and digital anomalies with developmental delay skos:exactMatch UMLS:C4748484 semapv:UnspecifiedMatching -OMIM:618166 CNTD1 skos:exactMatch hgnc:CNTD1 semapv:UnspecifiedMatching +OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:26847 semapv:UnspecifiedMatching +OMIM:618166 CNTD1 skos:exactMatch hgnc.symbol:CNTD1 semapv:UnspecifiedMatching OMIM:618166 CNTD1 skos:exactMatch ncbigene:124817 semapv:UnspecifiedMatching -OMIM:618169 PANTR1 skos:exactMatch hgnc:PANTR1 semapv:UnspecifiedMatching +OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:49513 semapv:UnspecifiedMatching +OMIM:618169 PANTR1 skos:exactMatch hgnc.symbol:PANTR1 semapv:UnspecifiedMatching OMIM:618169 PANTR1 skos:exactMatch ncbigene:100506421 semapv:UnspecifiedMatching OMIM:618171 KIF16B skos:exactMatch UMLS:C1423791 semapv:UnspecifiedMatching OMIM:618171 KIF16B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618171 KIF16B skos:exactMatch hgnc:KIF16B semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:15869 semapv:UnspecifiedMatching +OMIM:618171 KIF16B skos:exactMatch hgnc.symbol:KIF16B semapv:UnspecifiedMatching OMIM:618171 KIF16B skos:exactMatch ncbigene:55614 semapv:UnspecifiedMatching -OMIM:618172 LUARIS skos:exactMatch hgnc:LUARIS semapv:UnspecifiedMatching +OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:40992 semapv:UnspecifiedMatching +OMIM:618172 LUARIS skos:exactMatch hgnc.symbol:LUARIS semapv:UnspecifiedMatching OMIM:618172 LUARIS skos:exactMatch ncbigene:100506895 semapv:UnspecifiedMatching +OMIM:618173 retinitis pigmentosa 83 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618173 retinitis pigmentosa 83 skos:exactMatch UMLS:C4748536 semapv:UnspecifiedMatching -OMIM:618173 retinitis pigmentosa 83 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching +OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch UMLS:C4748545 semapv:UnspecifiedMatching -OMIM:618176 nephrotic syndrome, iia 17 skos:exactMatch orphanet.ordo:656 semapv:UnspecifiedMatching +OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch UMLS:C4748549 semapv:UnspecifiedMatching -OMIM:618177 nephrotic syndrome, iia 18 skos:exactMatch orphanet.ordo:656 semapv:UnspecifiedMatching +OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch Orphanet:656 semapv:UnspecifiedMatching OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch UMLS:C4748552 semapv:UnspecifiedMatching -OMIM:618178 nephrotic syndrome, iia 19 skos:exactMatch orphanet.ordo:656 semapv:UnspecifiedMatching -OMIM:618181 ZBTB11 skos:exactMatch hgnc:ZBTB11 semapv:UnspecifiedMatching +OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:16740 semapv:UnspecifiedMatching +OMIM:618181 ZBTB11 skos:exactMatch hgnc.symbol:ZBTB11 semapv:UnspecifiedMatching OMIM:618181 ZBTB11 skos:exactMatch ncbigene:27107 semapv:UnspecifiedMatching +OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch Orphanet:2680 semapv:UnspecifiedMatching OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch UMLS:C4748608 semapv:UnspecifiedMatching -OMIM:618186 neuropathy, congenital hypomyelinating, 3 skos:exactMatch orphanet.ordo:2680 semapv:UnspecifiedMatching -OMIM:618190 LUCAT1 skos:exactMatch hgnc:LUCAT1 semapv:UnspecifiedMatching +OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:48498 semapv:UnspecifiedMatching +OMIM:618190 LUCAT1 skos:exactMatch hgnc.symbol:LUCAT1 semapv:UnspecifiedMatching OMIM:618190 LUCAT1 skos:exactMatch ncbigene:100505994 semapv:UnspecifiedMatching -OMIM:618191 CEACAM21 skos:exactMatch hgnc:CEACAM21 semapv:UnspecifiedMatching +OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:28834 semapv:UnspecifiedMatching +OMIM:618191 CEACAM21 skos:exactMatch hgnc.symbol:CEACAM21 semapv:UnspecifiedMatching OMIM:618191 CEACAM21 skos:exactMatch ncbigene:90273 semapv:UnspecifiedMatching -OMIM:618192 PCAT19 skos:exactMatch hgnc:PCAT19 semapv:UnspecifiedMatching +OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:49593 semapv:UnspecifiedMatching +OMIM:618192 PCAT19 skos:exactMatch hgnc.symbol:PCAT19 semapv:UnspecifiedMatching OMIM:618192 PCAT19 skos:exactMatch ncbigene:100505495 semapv:UnspecifiedMatching +OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch Orphanet:2770 semapv:UnspecifiedMatching OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch UMLS:C4748657 semapv:UnspecifiedMatching -OMIM:618193 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:exactMatch orphanet.ordo:2770 semapv:UnspecifiedMatching -OMIM:618194 SSC5D skos:exactMatch hgnc:SSC5D semapv:UnspecifiedMatching +OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:26641 semapv:UnspecifiedMatching +OMIM:618194 SSC5D skos:exactMatch hgnc.symbol:SSC5D semapv:UnspecifiedMatching OMIM:618194 SSC5D skos:exactMatch ncbigene:284297 semapv:UnspecifiedMatching +OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch Orphanet:98914 semapv:UnspecifiedMatching OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch UMLS:C4748678 semapv:UnspecifiedMatching -OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic skos:exactMatch orphanet.ordo:98914 semapv:UnspecifiedMatching -OMIM:618199 A1CF skos:exactMatch hgnc:A1CF semapv:UnspecifiedMatching +OMIM:618199 A1CF skos:exactMatch hgnc.symbol:24086 semapv:UnspecifiedMatching +OMIM:618199 A1CF skos:exactMatch hgnc.symbol:A1CF semapv:UnspecifiedMatching OMIM:618199 A1CF skos:exactMatch ncbigene:29974 semapv:UnspecifiedMatching -OMIM:618200 MDN1 skos:exactMatch hgnc:MDN1 semapv:UnspecifiedMatching +OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:18302 semapv:UnspecifiedMatching +OMIM:618200 MDN1 skos:exactMatch hgnc.symbol:MDN1 semapv:UnspecifiedMatching OMIM:618200 MDN1 skos:exactMatch ncbigene:23195 semapv:UnspecifiedMatching +OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch UMLS:C4748688 semapv:UnspecifiedMatching -OMIM:618201 developmental and epileptic encephalopathy 68 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:618202 DNAJC30 skos:exactMatch hgnc:DNAJC30 semapv:UnspecifiedMatching +OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:16410 semapv:UnspecifiedMatching +OMIM:618202 DNAJC30 skos:exactMatch hgnc.symbol:DNAJC30 semapv:UnspecifiedMatching OMIM:618202 DNAJC30 skos:exactMatch ncbigene:84277 semapv:UnspecifiedMatching -OMIM:618203 TMTC4 skos:exactMatch hgnc:TMTC4 semapv:UnspecifiedMatching +OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:25904 semapv:UnspecifiedMatching +OMIM:618203 TMTC4 skos:exactMatch hgnc.symbol:TMTC4 semapv:UnspecifiedMatching OMIM:618203 TMTC4 skos:exactMatch ncbigene:84899 semapv:UnspecifiedMatching +OMIM:618204 immunodeficiency 15a skos:exactMatch Orphanet:397787 semapv:UnspecifiedMatching OMIM:618204 immunodeficiency 15a skos:exactMatch UMLS:C4748694 semapv:UnspecifiedMatching -OMIM:618204 immunodeficiency 15a skos:exactMatch orphanet.ordo:397787 semapv:UnspecifiedMatching -OMIM:618206 ZC3H7B skos:exactMatch hgnc:ZC3H7B semapv:UnspecifiedMatching +OMIM:618206 ZC3H7B skos:exactMatch hgnc.symbol:30869 semapv:UnspecifiedMatching +OMIM:618206 ZC3H7B skos:exactMatch hgnc.symbol:ZC3H7B semapv:UnspecifiedMatching OMIM:618206 ZC3H7B skos:exactMatch ncbigene:23264 semapv:UnspecifiedMatching -OMIM:618207 SCFD1 skos:exactMatch hgnc:SCFD1 semapv:UnspecifiedMatching +OMIM:618207 SCFD1 skos:exactMatch hgnc.symbol:20726 semapv:UnspecifiedMatching +OMIM:618207 SCFD1 skos:exactMatch hgnc.symbol:SCFD1 semapv:UnspecifiedMatching OMIM:618207 SCFD1 skos:exactMatch ncbigene:23256 semapv:UnspecifiedMatching -OMIM:618208 LINC01159 skos:exactMatch hgnc:LINC01159 semapv:UnspecifiedMatching +OMIM:618208 LINC01159 skos:exactMatch hgnc.symbol:49514 semapv:UnspecifiedMatching +OMIM:618208 LINC01159 skos:exactMatch hgnc.symbol:LINC01159 semapv:UnspecifiedMatching OMIM:618208 LINC01159 skos:exactMatch ncbigene:102682016 semapv:UnspecifiedMatching -OMIM:618209 HAGLR skos:exactMatch hgnc:HAGLR semapv:UnspecifiedMatching +OMIM:618209 HAGLR skos:exactMatch hgnc.symbol:43755 semapv:UnspecifiedMatching +OMIM:618209 HAGLR skos:exactMatch hgnc.symbol:HAGLR semapv:UnspecifiedMatching OMIM:618209 HAGLR skos:exactMatch ncbigene:401022 semapv:UnspecifiedMatching -OMIM:618210 RFTN1 skos:exactMatch hgnc:RFTN1 semapv:UnspecifiedMatching +OMIM:618210 RFTN1 skos:exactMatch hgnc.symbol:30278 semapv:UnspecifiedMatching +OMIM:618210 RFTN1 skos:exactMatch hgnc.symbol:RFTN1 semapv:UnspecifiedMatching OMIM:618210 RFTN1 skos:exactMatch ncbigene:23180 semapv:UnspecifiedMatching -OMIM:618211 PITRM1 skos:exactMatch hgnc:PITRM1 semapv:UnspecifiedMatching +OMIM:618211 PITRM1 skos:exactMatch hgnc.symbol:17663 semapv:UnspecifiedMatching +OMIM:618211 PITRM1 skos:exactMatch hgnc.symbol:PITRM1 semapv:UnspecifiedMatching OMIM:618211 PITRM1 skos:exactMatch ncbigene:10531 semapv:UnspecifiedMatching -OMIM:618212 LINC-PINT skos:exactMatch hgnc:LINC-PINT semapv:UnspecifiedMatching +OMIM:618212 LINC-PINT skos:exactMatch hgnc.symbol:26885 semapv:UnspecifiedMatching +OMIM:618212 LINC-PINT skos:exactMatch hgnc.symbol:LINC-PINT semapv:UnspecifiedMatching OMIM:618212 LINC-PINT skos:exactMatch ncbigene:378805 semapv:UnspecifiedMatching -OMIM:618214 LINC01157 skos:exactMatch hgnc:LINC01157 semapv:UnspecifiedMatching +OMIM:618214 LINC01157 skos:exactMatch hgnc.symbol:49512 semapv:UnspecifiedMatching +OMIM:618214 LINC01157 skos:exactMatch hgnc.symbol:LINC01157 semapv:UnspecifiedMatching OMIM:618214 LINC01157 skos:exactMatch ncbigene:105379037 semapv:UnspecifiedMatching -OMIM:618215 RFTN2 skos:exactMatch hgnc:RFTN2 semapv:UnspecifiedMatching +OMIM:618215 RFTN2 skos:exactMatch hgnc.symbol:26402 semapv:UnspecifiedMatching +OMIM:618215 RFTN2 skos:exactMatch hgnc.symbol:RFTN2 semapv:UnspecifiedMatching OMIM:618215 RFTN2 skos:exactMatch ncbigene:130132 semapv:UnspecifiedMatching -OMIM:618216 MIRLET7BHG skos:exactMatch hgnc:MIRLET7BHG semapv:UnspecifiedMatching +OMIM:618216 MIRLET7BHG skos:exactMatch hgnc.symbol:37189 semapv:UnspecifiedMatching +OMIM:618216 MIRLET7BHG skos:exactMatch hgnc.symbol:MIRLET7BHG semapv:UnspecifiedMatching OMIM:618216 MIRLET7BHG skos:exactMatch ncbigene:400931 semapv:UnspecifiedMatching -OMIM:618217 ELDR skos:exactMatch hgnc:ELDR semapv:UnspecifiedMatching +OMIM:618217 ELDR skos:exactMatch hgnc.symbol:49511 semapv:UnspecifiedMatching +OMIM:618217 ELDR skos:exactMatch hgnc.symbol:ELDR semapv:UnspecifiedMatching OMIM:618217 ELDR skos:exactMatch ncbigene:102725541 semapv:UnspecifiedMatching +OMIM:618220 retinitis pigmentosa 84 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618220 retinitis pigmentosa 84 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching -OMIM:618220 retinitis pigmentosa 84 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching -OMIM:618227 LRRC56 skos:exactMatch hgnc:LRRC56 semapv:UnspecifiedMatching +OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:25430 semapv:UnspecifiedMatching +OMIM:618227 LRRC56 skos:exactMatch hgnc.symbol:LRRC56 semapv:UnspecifiedMatching OMIM:618227 LRRC56 skos:exactMatch ncbigene:115399 semapv:UnspecifiedMatching +OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch Orphanet:302 semapv:UnspecifiedMatching OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch UMLS:C4722258 semapv:UnspecifiedMatching -OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 skos:exactMatch orphanet.ordo:302 semapv:UnspecifiedMatching +OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch UMLS:C4748770 semapv:UnspecifiedMatching -OMIM:618235 mitochondrial complex 1 deficiency, nuclear iia 13 skos:exactMatch orphanet.ordo:255241 semapv:UnspecifiedMatching +OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch UMLS:C4748786 semapv:UnspecifiedMatching -OMIM:618239 mitochondrial complex 1 deficiency, nuclear iia 17 skos:exactMatch orphanet.ordo:255241 semapv:UnspecifiedMatching +OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch UMLS:C4748792 semapv:UnspecifiedMatching -OMIM:618242 mitochondrial complex 1 deficiency, nuclear iia 21 skos:exactMatch orphanet.ordo:2609 semapv:UnspecifiedMatching +OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch Orphanet:255241 semapv:UnspecifiedMatching OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch UMLS:C4748799 semapv:UnspecifiedMatching -OMIM:618244 mitochondrial complex 1 deficiency, nuclear iia 23 skos:exactMatch orphanet.ordo:255241 semapv:UnspecifiedMatching -OMIM:618255 MYORG skos:exactMatch hgnc:MYORG semapv:UnspecifiedMatching +OMIM:618255 MYORG skos:exactMatch hgnc.symbol:19918 semapv:UnspecifiedMatching +OMIM:618255 MYORG skos:exactMatch hgnc.symbol:MYORG semapv:UnspecifiedMatching OMIM:618255 MYORG skos:exactMatch ncbigene:57462 semapv:UnspecifiedMatching -OMIM:618258 SEC11A skos:exactMatch hgnc:SEC11A semapv:UnspecifiedMatching +OMIM:618258 SEC11A skos:exactMatch hgnc.symbol:17718 semapv:UnspecifiedMatching +OMIM:618258 SEC11A skos:exactMatch hgnc.symbol:SEC11A semapv:UnspecifiedMatching OMIM:618258 SEC11A skos:exactMatch ncbigene:23478 semapv:UnspecifiedMatching -OMIM:618259 LINC01565 skos:exactMatch hgnc:LINC01565 semapv:UnspecifiedMatching +OMIM:618259 LINC01565 skos:exactMatch hgnc.symbol:17099 semapv:UnspecifiedMatching +OMIM:618259 LINC01565 skos:exactMatch hgnc.symbol:LINC01565 semapv:UnspecifiedMatching OMIM:618259 LINC01565 skos:exactMatch ncbigene:23434 semapv:UnspecifiedMatching -OMIM:618260 CCDC47 skos:exactMatch hgnc:CCDC47 semapv:UnspecifiedMatching +OMIM:618260 CCDC47 skos:exactMatch hgnc.symbol:24856 semapv:UnspecifiedMatching +OMIM:618260 CCDC47 skos:exactMatch hgnc.symbol:CCDC47 semapv:UnspecifiedMatching OMIM:618260 CCDC47 skos:exactMatch ncbigene:57003 semapv:UnspecifiedMatching +OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch Orphanet:538958 semapv:UnspecifiedMatching OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch UMLS:C4748863 semapv:UnspecifiedMatching -OMIM:618261 lymphoproliferative syndrome 3 skos:exactMatch orphanet.ordo:538958 semapv:UnspecifiedMatching -OMIM:618262 CREB5 skos:exactMatch hgnc:CREB5 semapv:UnspecifiedMatching +OMIM:618262 CREB5 skos:exactMatch hgnc.symbol:16844 semapv:UnspecifiedMatching +OMIM:618262 CREB5 skos:exactMatch hgnc.symbol:CREB5 semapv:UnspecifiedMatching OMIM:618262 CREB5 skos:exactMatch ncbigene:9586 semapv:UnspecifiedMatching -OMIM:618263 CALHM3 skos:exactMatch hgnc:CALHM3 semapv:UnspecifiedMatching +OMIM:618263 CALHM3 skos:exactMatch hgnc.symbol:23458 semapv:UnspecifiedMatching +OMIM:618263 CALHM3 skos:exactMatch hgnc.symbol:CALHM3 semapv:UnspecifiedMatching OMIM:618263 CALHM3 skos:exactMatch ncbigene:119395 semapv:UnspecifiedMatching -OMIM:618269 ZNF341 skos:exactMatch hgnc:ZNF341 semapv:UnspecifiedMatching +OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:15992 semapv:UnspecifiedMatching +OMIM:618269 ZNF341 skos:exactMatch hgnc.symbol:ZNF341 semapv:UnspecifiedMatching OMIM:618269 ZNF341 skos:exactMatch ncbigene:84905 semapv:UnspecifiedMatching -OMIM:618271 SEC61A2 skos:exactMatch hgnc:SEC61A2 semapv:UnspecifiedMatching +OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:17702 semapv:UnspecifiedMatching +OMIM:618271 SEC61A2 skos:exactMatch hgnc.symbol:SEC61A2 semapv:UnspecifiedMatching OMIM:618271 SEC61A2 skos:exactMatch ncbigene:55176 semapv:UnspecifiedMatching -OMIM:618274 PPWD1 skos:exactMatch hgnc:PPWD1 semapv:UnspecifiedMatching +OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:28954 semapv:UnspecifiedMatching +OMIM:618274 PPWD1 skos:exactMatch hgnc.symbol:PPWD1 semapv:UnspecifiedMatching OMIM:618274 PPWD1 skos:exactMatch ncbigene:23398 semapv:UnspecifiedMatching +OMIM:618275 hypotrichosis 14 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:618275 hypotrichosis 14 skos:exactMatch UMLS:C4748930 semapv:UnspecifiedMatching -OMIM:618275 hypotrichosis 14 skos:exactMatch orphanet.ordo:55654 semapv:UnspecifiedMatching -OMIM:618277 NHLRC2 skos:exactMatch hgnc:NHLRC2 semapv:UnspecifiedMatching +OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:24731 semapv:UnspecifiedMatching +OMIM:618277 NHLRC2 skos:exactMatch hgnc.symbol:NHLRC2 semapv:UnspecifiedMatching OMIM:618277 NHLRC2 skos:exactMatch ncbigene:374354 semapv:UnspecifiedMatching -OMIM:618281 VWA2 skos:exactMatch hgnc:VWA2 semapv:UnspecifiedMatching +OMIM:618281 VWA2 skos:exactMatch hgnc.symbol:24709 semapv:UnspecifiedMatching +OMIM:618281 VWA2 skos:exactMatch hgnc.symbol:VWA2 semapv:UnspecifiedMatching OMIM:618281 VWA2 skos:exactMatch ncbigene:340706 semapv:UnspecifiedMatching OMIM:618285 developmental and epileptic encephalopathy 69 skos:exactMatch UMLS:C4748988 semapv:UnspecifiedMatching -OMIM:618288 HMCES skos:exactMatch hgnc:HMCES semapv:UnspecifiedMatching +OMIM:618288 HMCES skos:exactMatch hgnc.symbol:24446 semapv:UnspecifiedMatching +OMIM:618288 HMCES skos:exactMatch hgnc.symbol:HMCES semapv:UnspecifiedMatching OMIM:618288 HMCES skos:exactMatch ncbigene:56941 semapv:UnspecifiedMatching -OMIM:618289 ENTR1 skos:exactMatch hgnc:ENTR1 semapv:UnspecifiedMatching +OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:10667 semapv:UnspecifiedMatching +OMIM:618289 ENTR1 skos:exactMatch hgnc.symbol:ENTR1 semapv:UnspecifiedMatching OMIM:618289 ENTR1 skos:exactMatch ncbigene:10807 semapv:UnspecifiedMatching -OMIM:618290 WDR90 skos:exactMatch hgnc:WDR90 semapv:UnspecifiedMatching +OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:26960 semapv:UnspecifiedMatching +OMIM:618290 WDR90 skos:exactMatch hgnc.symbol:WDR90 semapv:UnspecifiedMatching OMIM:618290 WDR90 skos:exactMatch ncbigene:197335 semapv:UnspecifiedMatching OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:exactMatch UMLS:C4749003 semapv:UnspecifiedMatching +OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch UMLS:C4749014 semapv:UnspecifiedMatching -OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching -OMIM:618293 IFITM10 skos:exactMatch hgnc:IFITM10 semapv:UnspecifiedMatching +OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:40022 semapv:UnspecifiedMatching +OMIM:618293 IFITM10 skos:exactMatch hgnc.symbol:IFITM10 semapv:UnspecifiedMatching OMIM:618293 IFITM10 skos:exactMatch ncbigene:402778 semapv:UnspecifiedMatching -OMIM:618294 TMEM91 skos:exactMatch hgnc:TMEM91 semapv:UnspecifiedMatching +OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:32393 semapv:UnspecifiedMatching +OMIM:618294 TMEM91 skos:exactMatch hgnc.symbol:TMEM91 semapv:UnspecifiedMatching OMIM:618294 TMEM91 skos:exactMatch ncbigene:641649 semapv:UnspecifiedMatching -OMIM:618296 TMEM233 skos:exactMatch hgnc:TMEM233 semapv:UnspecifiedMatching +OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:37219 semapv:UnspecifiedMatching +OMIM:618296 TMEM233 skos:exactMatch hgnc.symbol:TMEM233 semapv:UnspecifiedMatching OMIM:618296 TMEM233 skos:exactMatch ncbigene:387890 semapv:UnspecifiedMatching -OMIM:618297 PRRT1 skos:exactMatch hgnc:PRRT1 semapv:UnspecifiedMatching +OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:13943 semapv:UnspecifiedMatching +OMIM:618297 PRRT1 skos:exactMatch hgnc.symbol:PRRT1 semapv:UnspecifiedMatching OMIM:618297 PRRT1 skos:exactMatch ncbigene:80863 semapv:UnspecifiedMatching +OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch Orphanet:3451 semapv:UnspecifiedMatching OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch UMLS:C4749023 semapv:UnspecifiedMatching -OMIM:618298 developmental and epileptic encephalopathy 70 skos:exactMatch orphanet.ordo:3451 semapv:UnspecifiedMatching -OMIM:618299 LRP12 skos:exactMatch hgnc:LRP12 semapv:UnspecifiedMatching +OMIM:618299 LRP12 skos:exactMatch hgnc.symbol:31708 semapv:UnspecifiedMatching +OMIM:618299 LRP12 skos:exactMatch hgnc.symbol:LRP12 semapv:UnspecifiedMatching OMIM:618299 LRP12 skos:exactMatch ncbigene:29967 semapv:UnspecifiedMatching -OMIM:618301 KAZN skos:exactMatch hgnc:KAZN semapv:UnspecifiedMatching +OMIM:618301 KAZN skos:exactMatch hgnc.symbol:29173 semapv:UnspecifiedMatching +OMIM:618301 KAZN skos:exactMatch hgnc.symbol:KAZN semapv:UnspecifiedMatching OMIM:618301 KAZN skos:exactMatch ncbigene:23254 semapv:UnspecifiedMatching -OMIM:618303 CAVIN3 skos:exactMatch hgnc:CAVIN3 semapv:UnspecifiedMatching +OMIM:618303 CAVIN3 skos:exactMatch hgnc.symbol:9400 semapv:UnspecifiedMatching +OMIM:618303 CAVIN3 skos:exactMatch hgnc.symbol:CAVIN3 semapv:UnspecifiedMatching OMIM:618303 CAVIN3 skos:exactMatch ncbigene:112464 semapv:UnspecifiedMatching OMIM:618304 QRICH2 skos:exactMatch UMLS:C1826749 semapv:UnspecifiedMatching OMIM:618304 QRICH2 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching -OMIM:618304 QRICH2 skos:exactMatch hgnc:QRICH2 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch hgnc.symbol:25326 semapv:UnspecifiedMatching +OMIM:618304 QRICH2 skos:exactMatch hgnc.symbol:QRICH2 semapv:UnspecifiedMatching OMIM:618304 QRICH2 skos:exactMatch ncbigene:84074 semapv:UnspecifiedMatching -OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc:ATP1A1-AS1 semapv:UnspecifiedMatching +OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc.symbol:28262 semapv:UnspecifiedMatching +OMIM:618305 ATP1A1AS1 skos:exactMatch hgnc.symbol:ATP1A1-AS1 semapv:UnspecifiedMatching OMIM:618305 ATP1A1AS1 skos:exactMatch ncbigene:84852 semapv:UnspecifiedMatching -OMIM:618306 PRR7 skos:exactMatch hgnc:PRR7 semapv:UnspecifiedMatching +OMIM:618306 PRR7 skos:exactMatch hgnc.symbol:28130 semapv:UnspecifiedMatching +OMIM:618306 PRR7 skos:exactMatch hgnc.symbol:PRR7 semapv:UnspecifiedMatching OMIM:618306 PRR7 skos:exactMatch ncbigene:80758 semapv:UnspecifiedMatching -OMIM:618308 NOP9 skos:exactMatch hgnc:NOP9 semapv:UnspecifiedMatching +OMIM:618308 NOP9 skos:exactMatch hgnc.symbol:19826 semapv:UnspecifiedMatching +OMIM:618308 NOP9 skos:exactMatch hgnc.symbol:NOP9 semapv:UnspecifiedMatching OMIM:618308 NOP9 skos:exactMatch ncbigene:161424 semapv:UnspecifiedMatching +OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch UMLS:C5193020 semapv:UnspecifiedMatching -OMIM:618310 diamond-blackfan anemia 18 skos:exactMatch orphanet.ordo:124 semapv:UnspecifiedMatching -OMIM:618311 RRS1 skos:exactMatch hgnc:RRS1 semapv:UnspecifiedMatching +OMIM:618311 RRS1 skos:exactMatch hgnc.symbol:17083 semapv:UnspecifiedMatching +OMIM:618311 RRS1 skos:exactMatch hgnc.symbol:RRS1 semapv:UnspecifiedMatching OMIM:618311 RRS1 skos:exactMatch ncbigene:23212 semapv:UnspecifiedMatching +OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch UMLS:C5193021 semapv:UnspecifiedMatching -OMIM:618312 diamond-blackfan anemia 19 skos:exactMatch orphanet.ordo:124 semapv:UnspecifiedMatching +OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch Orphanet:124 semapv:UnspecifiedMatching OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch UMLS:C5193022 semapv:UnspecifiedMatching -OMIM:618313 diamond-blackfan anemia 20 skos:exactMatch orphanet.ordo:124 semapv:UnspecifiedMatching -OMIM:618315 RPL35 skos:exactMatch hgnc:RPL35 semapv:UnspecifiedMatching +OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:10344 semapv:UnspecifiedMatching +OMIM:618315 RPL35 skos:exactMatch hgnc.symbol:RPL35 semapv:UnspecifiedMatching OMIM:618315 RPL35 skos:exactMatch ncbigene:11224 semapv:UnspecifiedMatching -OMIM:618318 CFAP119 skos:exactMatch hgnc:CFAP119 semapv:UnspecifiedMatching +OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:28078 semapv:UnspecifiedMatching +OMIM:618318 CFAP119 skos:exactMatch hgnc.symbol:CFAP119 semapv:UnspecifiedMatching OMIM:618318 CFAP119 skos:exactMatch ncbigene:90835 semapv:UnspecifiedMatching -OMIM:618319 PRDM10 skos:exactMatch hgnc:PRDM10 semapv:UnspecifiedMatching +OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:13995 semapv:UnspecifiedMatching +OMIM:618319 PRDM10 skos:exactMatch hgnc.symbol:PRDM10 semapv:UnspecifiedMatching OMIM:618319 PRDM10 skos:exactMatch ncbigene:56980 semapv:UnspecifiedMatching OMIM:618320 PLA2G2E skos:exactMatch UMLS:C1421980 semapv:UnspecifiedMatching -OMIM:618320 PLA2G2E skos:exactMatch hgnc:PLA2G2E semapv:UnspecifiedMatching +OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:13414 semapv:UnspecifiedMatching +OMIM:618320 PLA2G2E skos:exactMatch hgnc.symbol:PLA2G2E semapv:UnspecifiedMatching OMIM:618320 PLA2G2E skos:exactMatch ncbigene:30814 semapv:UnspecifiedMatching +OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch Orphanet:555402 semapv:UnspecifiedMatching OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch UMLS:C5193026 semapv:UnspecifiedMatching -OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 skos:exactMatch orphanet.ordo:555402 semapv:UnspecifiedMatching -OMIM:618322 USP38 skos:exactMatch hgnc:USP38 semapv:UnspecifiedMatching +OMIM:618322 USP38 skos:exactMatch hgnc.symbol:20067 semapv:UnspecifiedMatching +OMIM:618322 USP38 skos:exactMatch hgnc.symbol:USP38 semapv:UnspecifiedMatching OMIM:618322 USP38 skos:exactMatch ncbigene:84640 semapv:UnspecifiedMatching -OMIM:618326 ZCCHC3 skos:exactMatch hgnc:ZCCHC3 semapv:UnspecifiedMatching +OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:16230 semapv:UnspecifiedMatching +OMIM:618326 ZCCHC3 skos:exactMatch hgnc.symbol:ZCCHC3 semapv:UnspecifiedMatching OMIM:618326 ZCCHC3 skos:exactMatch ncbigene:85364 semapv:UnspecifiedMatching -OMIM:618327 CRACD skos:exactMatch hgnc:CRACD semapv:UnspecifiedMatching +OMIM:618327 CRACD skos:exactMatch hgnc.symbol:29219 semapv:UnspecifiedMatching +OMIM:618327 CRACD skos:exactMatch hgnc.symbol:CRACD semapv:UnspecifiedMatching OMIM:618327 CRACD skos:exactMatch ncbigene:57482 semapv:UnspecifiedMatching +OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch Orphanet:557064 semapv:UnspecifiedMatching OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch UMLS:C5193030 semapv:UnspecifiedMatching -OMIM:618328 developmental and epileptic encephalopathy 71 skos:exactMatch orphanet.ordo:557064 semapv:UnspecifiedMatching OMIM:618332 menke-hennekam syndrome 1 skos:exactMatch UMLS:C5193034 semapv:UnspecifiedMatching OMIM:618333 menke-hennekam syndrome 2 skos:exactMatch UMLS:C5193035 semapv:UnspecifiedMatching OMIM:618334 CYBC1 skos:exactMatch UMLS:C1824454 semapv:UnspecifiedMatching OMIM:618334 CYBC1 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching -OMIM:618334 CYBC1 skos:exactMatch hgnc:CYBC1 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:28672 semapv:UnspecifiedMatching +OMIM:618334 CYBC1 skos:exactMatch hgnc.symbol:CYBC1 semapv:UnspecifiedMatching OMIM:618334 CYBC1 skos:exactMatch ncbigene:79415 semapv:UnspecifiedMatching -OMIM:618335 LINC00958 skos:exactMatch hgnc:LINC00958 semapv:UnspecifiedMatching +OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:48671 semapv:UnspecifiedMatching +OMIM:618335 LINC00958 skos:exactMatch hgnc.symbol:LINC00958 semapv:UnspecifiedMatching OMIM:618335 LINC00958 skos:exactMatch ncbigene:100506305 semapv:UnspecifiedMatching -OMIM:618337 FRMD8 skos:exactMatch hgnc:FRMD8 semapv:UnspecifiedMatching +OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:25462 semapv:UnspecifiedMatching +OMIM:618337 FRMD8 skos:exactMatch hgnc.symbol:FRMD8 semapv:UnspecifiedMatching OMIM:618337 FRMD8 skos:exactMatch ncbigene:83786 semapv:UnspecifiedMatching -OMIM:618338 METTL7A skos:exactMatch hgnc:TMT1A semapv:UnspecifiedMatching -OMIM:618338 METTL7A skos:exactMatch ncbigene:25840 semapv:UnspecifiedMatching +OMIM:618338 TMT1A skos:exactMatch hgnc.symbol:TMT1A semapv:UnspecifiedMatching +OMIM:618338 TMT1A skos:exactMatch ncbigene:25840 semapv:UnspecifiedMatching OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:exactMatch UMLS:C5193037 semapv:UnspecifiedMatching -OMIM:618340 SMR3A skos:exactMatch hgnc:SMR3A semapv:UnspecifiedMatching +OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:19216 semapv:UnspecifiedMatching +OMIM:618340 SMR3A skos:exactMatch hgnc.symbol:SMR3A semapv:UnspecifiedMatching OMIM:618340 SMR3A skos:exactMatch ncbigene:26952 semapv:UnspecifiedMatching OMIM:618341 spermatogenic failure 35 skos:exactMatch UMLS:C5193038 semapv:UnspecifiedMatching -OMIM:618344 PRR15 skos:exactMatch hgnc:PRR15 semapv:UnspecifiedMatching +OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:22310 semapv:UnspecifiedMatching +OMIM:618344 PRR15 skos:exactMatch hgnc.symbol:PRR15 semapv:UnspecifiedMatching OMIM:618344 PRR15 skos:exactMatch ncbigene:222171 semapv:UnspecifiedMatching -OMIM:618350 MAP11 skos:exactMatch hgnc:TRAPPC14 semapv:UnspecifiedMatching +OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:25604 semapv:UnspecifiedMatching +OMIM:618350 MAP11 skos:exactMatch hgnc.symbol:TRAPPC14 semapv:UnspecifiedMatching OMIM:618350 MAP11 skos:exactMatch ncbigene:55262 semapv:UnspecifiedMatching OMIM:618355 ALG10 skos:exactMatch UMLS:C4760639 semapv:UnspecifiedMatching -OMIM:618355 ALG10 skos:exactMatch hgnc:ALG10 semapv:UnspecifiedMatching +OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:23162 semapv:UnspecifiedMatching +OMIM:618355 ALG10 skos:exactMatch hgnc.symbol:ALG10 semapv:UnspecifiedMatching OMIM:618355 ALG10 skos:exactMatch ncbigene:84920 semapv:UnspecifiedMatching OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction skos:exactMatch UMLS:C5193049 semapv:UnspecifiedMatching -OMIM:618359 ZNF197 skos:exactMatch hgnc:ZNF197 semapv:UnspecifiedMatching +OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:12988 semapv:UnspecifiedMatching +OMIM:618359 ZNF197 skos:exactMatch hgnc.symbol:ZNF197 semapv:UnspecifiedMatching OMIM:618359 ZNF197 skos:exactMatch ncbigene:10168 semapv:UnspecifiedMatching -OMIM:618361 DUSP23 skos:exactMatch hgnc:DUSP23 semapv:UnspecifiedMatching +OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:21480 semapv:UnspecifiedMatching +OMIM:618361 DUSP23 skos:exactMatch hgnc.symbol:DUSP23 semapv:UnspecifiedMatching OMIM:618361 DUSP23 skos:exactMatch ncbigene:54935 semapv:UnspecifiedMatching OMIM:618364 myoclonus, familial, 2 skos:exactMatch UMLS:C5193056 semapv:UnspecifiedMatching -OMIM:618365 ZSCAN10 skos:exactMatch hgnc:ZSCAN10 semapv:UnspecifiedMatching +OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:12997 semapv:UnspecifiedMatching +OMIM:618365 ZSCAN10 skos:exactMatch hgnc.symbol:ZSCAN10 semapv:UnspecifiedMatching OMIM:618365 ZSCAN10 skos:exactMatch ncbigene:84891 semapv:UnspecifiedMatching -OMIM:618366 VPS8 skos:exactMatch hgnc:VPS8 semapv:UnspecifiedMatching +OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:29122 semapv:UnspecifiedMatching +OMIM:618366 VPS8 skos:exactMatch hgnc.symbol:VPS8 semapv:UnspecifiedMatching OMIM:618366 VPS8 skos:exactMatch ncbigene:23355 semapv:UnspecifiedMatching -OMIM:618368 DUSP26 skos:exactMatch hgnc:DUSP26 semapv:UnspecifiedMatching +OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:28161 semapv:UnspecifiedMatching +OMIM:618368 DUSP26 skos:exactMatch hgnc.symbol:DUSP26 semapv:UnspecifiedMatching OMIM:618368 DUSP26 skos:exactMatch ncbigene:78986 semapv:UnspecifiedMatching -OMIM:618370 NEXNAS1 skos:exactMatch hgnc:NEXN-AS1 semapv:UnspecifiedMatching +OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:31983 semapv:UnspecifiedMatching +OMIM:618370 NEXNAS1 skos:exactMatch hgnc.symbol:NEXN-AS1 semapv:UnspecifiedMatching OMIM:618370 NEXNAS1 skos:exactMatch ncbigene:374987 semapv:UnspecifiedMatching OMIM:618374 developmental and epileptic encephalopathy 72 skos:exactMatch UMLS:C5193063 semapv:UnspecifiedMatching -OMIM:618375 FAAHP1 skos:exactMatch hgnc:FAAHP1 semapv:UnspecifiedMatching +OMIM:618375 FAAHP1 skos:exactMatch hgnc.symbol:50679 semapv:UnspecifiedMatching +OMIM:618375 FAAHP1 skos:exactMatch hgnc.symbol:FAAHP1 semapv:UnspecifiedMatching OMIM:618375 FAAHP1 skos:exactMatch ncbigene:729041 semapv:UnspecifiedMatching -OMIM:618376 PRSS23 skos:exactMatch hgnc:PRSS23 semapv:UnspecifiedMatching +OMIM:618376 PRSS23 skos:exactMatch hgnc.symbol:14370 semapv:UnspecifiedMatching +OMIM:618376 PRSS23 skos:exactMatch hgnc.symbol:PRSS23 semapv:UnspecifiedMatching OMIM:618376 PRSS23 skos:exactMatch ncbigene:11098 semapv:UnspecifiedMatching +OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch Orphanet:544503 semapv:UnspecifiedMatching OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch UMLS:C5193065 semapv:UnspecifiedMatching -OMIM:618379 developmental and epileptic encephalopathy 73 skos:exactMatch orphanet.ordo:544503 semapv:UnspecifiedMatching -OMIM:618380 FAM83D skos:exactMatch hgnc:FAM83D semapv:UnspecifiedMatching +OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:16122 semapv:UnspecifiedMatching +OMIM:618380 FAM83D skos:exactMatch hgnc.symbol:FAM83D semapv:UnspecifiedMatching OMIM:618380 FAM83D skos:exactMatch ncbigene:81610 semapv:UnspecifiedMatching -OMIM:618382 CIAO2A skos:exactMatch hgnc:CIAO2A semapv:UnspecifiedMatching +OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:26235 semapv:UnspecifiedMatching +OMIM:618382 CIAO2A skos:exactMatch hgnc.symbol:CIAO2A semapv:UnspecifiedMatching OMIM:618382 CIAO2A skos:exactMatch ncbigene:84191 semapv:UnspecifiedMatching OMIM:618383 intellectual developmental disorder, autosomal recessive 69 skos:exactMatch UMLS:C5193067 semapv:UnspecifiedMatching -OMIM:618385 CAP2 skos:exactMatch hgnc:CAP2 semapv:UnspecifiedMatching +OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:20039 semapv:UnspecifiedMatching +OMIM:618385 CAP2 skos:exactMatch hgnc.symbol:CAP2 semapv:UnspecifiedMatching OMIM:618385 CAP2 skos:exactMatch ncbigene:10486 semapv:UnspecifiedMatching +OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch UMLS:C4760576 semapv:UnspecifiedMatching -OMIM:618388 fetal akinesia deformation sequence 2 skos:exactMatch orphanet.ordo:994 semapv:UnspecifiedMatching +OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch Orphanet:994 semapv:UnspecifiedMatching OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch UMLS:C4760599 semapv:UnspecifiedMatching -OMIM:618389 fetal akinesia deformation sequence 3 skos:exactMatch orphanet.ordo:994 semapv:UnspecifiedMatching -OMIM:618390 BRINP3 skos:exactMatch hgnc:BRINP3 semapv:UnspecifiedMatching +OMIM:618390 BRINP3 skos:exactMatch hgnc.symbol:22393 semapv:UnspecifiedMatching +OMIM:618390 BRINP3 skos:exactMatch hgnc.symbol:BRINP3 semapv:UnspecifiedMatching OMIM:618390 BRINP3 skos:exactMatch ncbigene:339479 semapv:UnspecifiedMatching -OMIM:618391 DPH6 skos:exactMatch hgnc:DPH6 semapv:UnspecifiedMatching +OMIM:618391 DPH6 skos:exactMatch hgnc.symbol:30543 semapv:UnspecifiedMatching +OMIM:618391 DPH6 skos:exactMatch hgnc.symbol:DPH6 semapv:UnspecifiedMatching OMIM:618391 DPH6 skos:exactMatch ncbigene:89978 semapv:UnspecifiedMatching +OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch UMLS:C5193074 semapv:UnspecifiedMatching -OMIM:618396 developmental and epileptic encephalopathy 74 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch Orphanet:565624 semapv:UnspecifiedMatching OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch UMLS:C5193075 semapv:UnspecifiedMatching -OMIM:618397 combined oxidative phosphorylation deficiency 39 skos:exactMatch orphanet.ordo:565624 semapv:UnspecifiedMatching OMIM:618399 GLT8D1 skos:exactMatch UMLS:C1539576 semapv:UnspecifiedMatching -OMIM:618399 GLT8D1 skos:exactMatch hgnc:GLT8D1 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:24870 semapv:UnspecifiedMatching +OMIM:618399 GLT8D1 skos:exactMatch hgnc.symbol:GLT8D1 semapv:UnspecifiedMatching OMIM:618399 GLT8D1 skos:exactMatch ncbigene:55830 semapv:UnspecifiedMatching -OMIM:618401 FAM170A skos:exactMatch hgnc:FAM170A semapv:UnspecifiedMatching +OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:27963 semapv:UnspecifiedMatching +OMIM:618401 FAM170A skos:exactMatch hgnc.symbol:FAM170A semapv:UnspecifiedMatching OMIM:618401 FAM170A skos:exactMatch ncbigene:340069 semapv:UnspecifiedMatching +OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch UMLS:C5193077 semapv:UnspecifiedMatching -OMIM:618402 intellectual developmental disorder, autosomal recessive 70 skos:exactMatch orphanet.ordo:88616 semapv:UnspecifiedMatching -OMIM:618403 FAM124B skos:exactMatch hgnc:FAM124B semapv:UnspecifiedMatching +OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:26224 semapv:UnspecifiedMatching +OMIM:618403 FAM124B skos:exactMatch hgnc.symbol:FAM124B semapv:UnspecifiedMatching OMIM:618403 FAM124B skos:exactMatch ncbigene:79843 semapv:UnspecifiedMatching OMIM:618404 leukodystrophy, hypomyelinating, 18 skos:exactMatch UMLS:C5193078 semapv:UnspecifiedMatching -OMIM:618405 ZNF717 skos:exactMatch hgnc:ZNF717 semapv:UnspecifiedMatching +OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:29448 semapv:UnspecifiedMatching +OMIM:618405 ZNF717 skos:exactMatch hgnc.symbol:ZNF717 semapv:UnspecifiedMatching OMIM:618405 ZNF717 skos:exactMatch ncbigene:100131827 semapv:UnspecifiedMatching +OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch Orphanet:71529 semapv:UnspecifiedMatching OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4054546 semapv:UnspecifiedMatching OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch UMLS:C4759928 semapv:UnspecifiedMatching -OMIM:618406 body mass index quantitative trait locus 20 skos:exactMatch orphanet.ordo:71529 semapv:UnspecifiedMatching -OMIM:618407 MINDY1 skos:exactMatch hgnc:MINDY1 semapv:UnspecifiedMatching +OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:25648 semapv:UnspecifiedMatching +OMIM:618407 MINDY1 skos:exactMatch hgnc.symbol:MINDY1 semapv:UnspecifiedMatching OMIM:618407 MINDY1 skos:exactMatch ncbigene:55793 semapv:UnspecifiedMatching -OMIM:618408 MINDY2 skos:exactMatch hgnc:MINDY2 semapv:UnspecifiedMatching +OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:26954 semapv:UnspecifiedMatching +OMIM:618408 MINDY2 skos:exactMatch hgnc.symbol:MINDY2 semapv:UnspecifiedMatching OMIM:618408 MINDY2 skos:exactMatch ncbigene:54629 semapv:UnspecifiedMatching -OMIM:618409 FAM8A1 skos:exactMatch hgnc:FAM8A1 semapv:UnspecifiedMatching +OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:16372 semapv:UnspecifiedMatching +OMIM:618409 FAM8A1 skos:exactMatch hgnc.symbol:FAM8A1 semapv:UnspecifiedMatching OMIM:618409 FAM8A1 skos:exactMatch ncbigene:51439 semapv:UnspecifiedMatching -OMIM:618411 FTSJ3 skos:exactMatch hgnc:FTSJ3 semapv:UnspecifiedMatching +OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:17136 semapv:UnspecifiedMatching +OMIM:618411 FTSJ3 skos:exactMatch hgnc.symbol:FTSJ3 semapv:UnspecifiedMatching OMIM:618411 FTSJ3 skos:exactMatch ncbigene:117246 semapv:UnspecifiedMatching OMIM:618413 FAM149B1 skos:exactMatch UMLS:C2239438 semapv:UnspecifiedMatching OMIM:618413 FAM149B1 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching -OMIM:618413 FAM149B1 skos:exactMatch hgnc:FAM149B1 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:29162 semapv:UnspecifiedMatching +OMIM:618413 FAM149B1 skos:exactMatch hgnc.symbol:FAM149B1 semapv:UnspecifiedMatching OMIM:618413 FAM149B1 skos:exactMatch ncbigene:317662 semapv:UnspecifiedMatching OMIM:618417 MEI4 skos:exactMatch UMLS:C3544029 semapv:UnspecifiedMatching -OMIM:618417 MEI4 skos:exactMatch hgnc:MEI4 semapv:UnspecifiedMatching +OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:43638 semapv:UnspecifiedMatching +OMIM:618417 MEI4 skos:exactMatch hgnc.symbol:MEI4 semapv:UnspecifiedMatching OMIM:618417 MEI4 skos:exactMatch ncbigene:101928601 semapv:UnspecifiedMatching -OMIM:618421 REC114 skos:exactMatch hgnc:REC114 semapv:UnspecifiedMatching +OMIM:618421 REC114 skos:exactMatch hgnc.symbol:25065 semapv:UnspecifiedMatching +OMIM:618421 REC114 skos:exactMatch hgnc.symbol:REC114 semapv:UnspecifiedMatching OMIM:618421 REC114 skos:exactMatch ncbigene:283677 semapv:UnspecifiedMatching +OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch UMLS:C5193087 semapv:UnspecifiedMatching -OMIM:618422 deafness, autosomal recessive 100 skos:exactMatch orphanet.ordo:90636 semapv:UnspecifiedMatching OMIM:618423 ANKRD31 skos:exactMatch UMLS:C1538289 semapv:UnspecifiedMatching -OMIM:618423 ANKRD31 skos:exactMatch hgnc:ANKRD31 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:26853 semapv:UnspecifiedMatching +OMIM:618423 ANKRD31 skos:exactMatch hgnc.symbol:ANKRD31 semapv:UnspecifiedMatching OMIM:618423 ANKRD31 skos:exactMatch ncbigene:256006 semapv:UnspecifiedMatching -OMIM:618424 ARMC2 skos:exactMatch hgnc:ARMC2 semapv:UnspecifiedMatching +OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:23045 semapv:UnspecifiedMatching +OMIM:618424 ARMC2 skos:exactMatch hgnc.symbol:ARMC2 semapv:UnspecifiedMatching OMIM:618424 ARMC2 skos:exactMatch ncbigene:84071 semapv:UnspecifiedMatching -OMIM:618427 PACC1 skos:exactMatch hgnc:PACC1 semapv:UnspecifiedMatching +OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:25593 semapv:UnspecifiedMatching +OMIM:618427 PACC1 skos:exactMatch hgnc.symbol:PACC1 semapv:UnspecifiedMatching OMIM:618427 PACC1 skos:exactMatch ncbigene:55248 semapv:UnspecifiedMatching +OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch Orphanet:254688 semapv:UnspecifiedMatching OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch UMLS:C5193094 semapv:UnspecifiedMatching -OMIM:618432 hydatidiform mole, recurrent, 4 skos:exactMatch orphanet.ordo:254688 semapv:UnspecifiedMatching +OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch UMLS:C5193096 semapv:UnspecifiedMatching -OMIM:618434 deafness, autosomal recessive 94 skos:exactMatch orphanet.ordo:90636 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching +OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch Orphanet:1147 semapv:UnspecifiedMatching OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch UMLS:C5193097 semapv:UnspecifiedMatching -OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch orphanet.ordo:1146 semapv:UnspecifiedMatching -OMIM:618435 arthrogryposis, distal, iia 2b2 skos:exactMatch orphanet.ordo:1147 semapv:UnspecifiedMatching +OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch UMLS:C5193099 semapv:UnspecifiedMatching -OMIM:618437 developmental and epileptic encephalopathy 75 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:618439 USP45 skos:exactMatch hgnc:USP45 semapv:UnspecifiedMatching +OMIM:618439 USP45 skos:exactMatch hgnc.symbol:20080 semapv:UnspecifiedMatching +OMIM:618439 USP45 skos:exactMatch hgnc.symbol:USP45 semapv:UnspecifiedMatching OMIM:618439 USP45 skos:exactMatch ncbigene:85015 semapv:UnspecifiedMatching -OMIM:618441 ADGRG3 skos:exactMatch hgnc:ADGRG3 semapv:UnspecifiedMatching +OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:13728 semapv:UnspecifiedMatching +OMIM:618441 ADGRG3 skos:exactMatch hgnc.symbol:ADGRG3 semapv:UnspecifiedMatching OMIM:618441 ADGRG3 skos:exactMatch ncbigene:222487 semapv:UnspecifiedMatching -OMIM:618442 KCTD8 skos:exactMatch hgnc:KCTD8 semapv:UnspecifiedMatching +OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:22394 semapv:UnspecifiedMatching +OMIM:618442 KCTD8 skos:exactMatch hgnc.symbol:KCTD8 semapv:UnspecifiedMatching OMIM:618442 KCTD8 skos:exactMatch ncbigene:386617 semapv:UnspecifiedMatching -OMIM:618444 PLGRKT skos:exactMatch hgnc:PLGRKT semapv:UnspecifiedMatching +OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:23633 semapv:UnspecifiedMatching +OMIM:618444 PLGRKT skos:exactMatch hgnc.symbol:PLGRKT semapv:UnspecifiedMatching OMIM:618444 PLGRKT skos:exactMatch ncbigene:55848 semapv:UnspecifiedMatching -OMIM:618445 GHRLOS skos:exactMatch hgnc:GHRLOS semapv:UnspecifiedMatching +OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:33885 semapv:UnspecifiedMatching +OMIM:618445 GHRLOS skos:exactMatch hgnc.symbol:GHRLOS semapv:UnspecifiedMatching OMIM:618445 GHRLOS skos:exactMatch ncbigene:100126793 semapv:UnspecifiedMatching -OMIM:618446 GPC2 skos:exactMatch hgnc:GPC2 semapv:UnspecifiedMatching +OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:4450 semapv:UnspecifiedMatching +OMIM:618446 GPC2 skos:exactMatch hgnc.symbol:GPC2 semapv:UnspecifiedMatching OMIM:618446 GPC2 skos:exactMatch ncbigene:221914 semapv:UnspecifiedMatching -OMIM:618448 GPR139 skos:exactMatch hgnc:GPR139 semapv:UnspecifiedMatching +OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:19995 semapv:UnspecifiedMatching +OMIM:618448 GPR139 skos:exactMatch hgnc.symbol:GPR139 semapv:UnspecifiedMatching OMIM:618448 GPR139 skos:exactMatch ncbigene:124274 semapv:UnspecifiedMatching -OMIM:618450 RTKN2 skos:exactMatch hgnc:RTKN2 semapv:UnspecifiedMatching +OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:19364 semapv:UnspecifiedMatching +OMIM:618450 RTKN2 skos:exactMatch hgnc.symbol:RTKN2 semapv:UnspecifiedMatching OMIM:618450 RTKN2 skos:exactMatch ncbigene:219790 semapv:UnspecifiedMatching -OMIM:618452 PLEKHB2 skos:exactMatch hgnc:PLEKHB2 semapv:UnspecifiedMatching +OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:19236 semapv:UnspecifiedMatching +OMIM:618452 PLEKHB2 skos:exactMatch hgnc.symbol:PLEKHB2 semapv:UnspecifiedMatching OMIM:618452 PLEKHB2 skos:exactMatch ncbigene:55041 semapv:UnspecifiedMatching OMIM:618454 developmental delay with or without dysmorphic facies and autism skos:exactMatch UMLS:C5193106 semapv:UnspecifiedMatching -OMIM:618455 HEPHL1 skos:exactMatch hgnc:HEPHL1 semapv:UnspecifiedMatching +OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:30477 semapv:UnspecifiedMatching +OMIM:618455 HEPHL1 skos:exactMatch hgnc.symbol:HEPHL1 semapv:UnspecifiedMatching OMIM:618455 HEPHL1 skos:exactMatch ncbigene:341208 semapv:UnspecifiedMatching OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C4320593 semapv:UnspecifiedMatching OMIM:618461 NDUFAF8 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching -OMIM:618461 NDUFAF8 skos:exactMatch hgnc:NDUFAF8 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:33551 semapv:UnspecifiedMatching +OMIM:618461 NDUFAF8 skos:exactMatch hgnc.symbol:NDUFAF8 semapv:UnspecifiedMatching OMIM:618461 NDUFAF8 skos:exactMatch ncbigene:284184 semapv:UnspecifiedMatching OMIM:618465 BRD9 skos:exactMatch UMLS:C1428523 semapv:UnspecifiedMatching -OMIM:618465 BRD9 skos:exactMatch hgnc:BRD9 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:25818 semapv:UnspecifiedMatching +OMIM:618465 BRD9 skos:exactMatch hgnc.symbol:BRD9 semapv:UnspecifiedMatching OMIM:618465 BRD9 skos:exactMatch ncbigene:65980 semapv:UnspecifiedMatching OMIM:618466 BRIX1 skos:exactMatch UMLS:C1538972 semapv:UnspecifiedMatching -OMIM:618466 BRIX1 skos:exactMatch hgnc:BRIX1 semapv:UnspecifiedMatching +OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:24170 semapv:UnspecifiedMatching +OMIM:618466 BRIX1 skos:exactMatch hgnc.symbol:BRIX1 semapv:UnspecifiedMatching OMIM:618466 BRIX1 skos:exactMatch ncbigene:55299 semapv:UnspecifiedMatching -OMIM:618467 SLF1 skos:exactMatch hgnc:SLF1 semapv:UnspecifiedMatching +OMIM:618467 SLF1 skos:exactMatch hgnc.symbol:25408 semapv:UnspecifiedMatching +OMIM:618467 SLF1 skos:exactMatch hgnc.symbol:SLF1 semapv:UnspecifiedMatching OMIM:618467 SLF1 skos:exactMatch ncbigene:84250 semapv:UnspecifiedMatching +OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch UMLS:C5193113 semapv:UnspecifiedMatching -OMIM:618468 developmental and epileptic encephalopathy 76 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching +OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch Orphanet:2990 semapv:UnspecifiedMatching OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch UMLS:C5193114 semapv:UnspecifiedMatching -OMIM:618469 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b skos:exactMatch orphanet.ordo:2990 semapv:UnspecifiedMatching +OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching -OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching -OMIM:618471 RPF2 skos:exactMatch hgnc:RPF2 semapv:UnspecifiedMatching +OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:20870 semapv:UnspecifiedMatching +OMIM:618471 RPF2 skos:exactMatch hgnc.symbol:RPF2 semapv:UnspecifiedMatching OMIM:618471 RPF2 skos:exactMatch ncbigene:84154 semapv:UnspecifiedMatching -OMIM:618472 ASPG skos:exactMatch hgnc:ASPG semapv:UnspecifiedMatching +OMIM:618472 ASPG skos:exactMatch hgnc.symbol:20123 semapv:UnspecifiedMatching +OMIM:618472 ASPG skos:exactMatch hgnc.symbol:ASPG semapv:UnspecifiedMatching OMIM:618472 ASPG skos:exactMatch ncbigene:374569 semapv:UnspecifiedMatching -OMIM:618473 EIF1AD skos:exactMatch hgnc:EIF1AD semapv:UnspecifiedMatching +OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:28147 semapv:UnspecifiedMatching +OMIM:618473 EIF1AD skos:exactMatch hgnc.symbol:EIF1AD semapv:UnspecifiedMatching OMIM:618473 EIF1AD skos:exactMatch ncbigene:84285 semapv:UnspecifiedMatching -OMIM:618474 WDR83OS skos:exactMatch hgnc:WDR83OS semapv:UnspecifiedMatching +OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:30203 semapv:UnspecifiedMatching +OMIM:618474 WDR83OS skos:exactMatch hgnc.symbol:WDR83OS semapv:UnspecifiedMatching OMIM:618474 WDR83OS skos:exactMatch ncbigene:51398 semapv:UnspecifiedMatching -OMIM:618478 FYB2 skos:exactMatch hgnc:FYB2 semapv:UnspecifiedMatching +OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:27295 semapv:UnspecifiedMatching +OMIM:618478 FYB2 skos:exactMatch hgnc.symbol:FYB2 semapv:UnspecifiedMatching OMIM:618478 FYB2 skos:exactMatch ncbigene:199920 semapv:UnspecifiedMatching OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome skos:exactMatch UMLS:C5193118 semapv:UnspecifiedMatching OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment skos:exactMatch UMLS:C5193119 semapv:UnspecifiedMatching +OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch Orphanet:90636 semapv:UnspecifiedMatching OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch UMLS:C4760579 semapv:UnspecifiedMatching -OMIM:618481 deafness, autosomal recessive 99 skos:exactMatch orphanet.ordo:90636 semapv:UnspecifiedMatching +OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch Orphanet:36387 semapv:UnspecifiedMatching OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch UMLS:C5193120 semapv:UnspecifiedMatching -OMIM:618482 generalized epilepsy with febrile seizures plus, iia 10 skos:exactMatch orphanet.ordo:36387 semapv:UnspecifiedMatching -OMIM:618483 LLGL2 skos:exactMatch hgnc:LLGL2 semapv:UnspecifiedMatching +OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:6629 semapv:UnspecifiedMatching +OMIM:618483 LLGL2 skos:exactMatch hgnc.symbol:LLGL2 semapv:UnspecifiedMatching OMIM:618483 LLGL2 skos:exactMatch ncbigene:3993 semapv:UnspecifiedMatching +OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch Orphanet:319332 semapv:UnspecifiedMatching OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch UMLS:C5193121 semapv:UnspecifiedMatching -OMIM:618484 arthrogryposis multiplex congenita 3, myogenic iia skos:exactMatch orphanet.ordo:319332 semapv:UnspecifiedMatching -OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc:ZBTB40-IT1 semapv:UnspecifiedMatching +OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:41493 semapv:UnspecifiedMatching +OMIM:618485 ZBTB40IT1 skos:exactMatch hgnc.symbol:ZBTB40-IT1 semapv:UnspecifiedMatching OMIM:618485 ZBTB40IT1 skos:exactMatch ncbigene:100874345 semapv:UnspecifiedMatching -OMIM:618486 PLBD1 skos:exactMatch hgnc:PLBD1 semapv:UnspecifiedMatching +OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:26215 semapv:UnspecifiedMatching +OMIM:618486 PLBD1 skos:exactMatch hgnc.symbol:PLBD1 semapv:UnspecifiedMatching OMIM:618486 PLBD1 skos:exactMatch ncbigene:79887 semapv:UnspecifiedMatching -OMIM:618487 GPR151 skos:exactMatch hgnc:GPR151 semapv:UnspecifiedMatching +OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:23624 semapv:UnspecifiedMatching +OMIM:618487 GPR151 skos:exactMatch hgnc.symbol:GPR151 semapv:UnspecifiedMatching OMIM:618487 GPR151 skos:exactMatch ncbigene:134391 semapv:UnspecifiedMatching -OMIM:618488 PLD4 skos:exactMatch hgnc:PLD4 semapv:UnspecifiedMatching +OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:23792 semapv:UnspecifiedMatching +OMIM:618488 PLD4 skos:exactMatch hgnc.symbol:PLD4 semapv:UnspecifiedMatching OMIM:618488 PLD4 skos:exactMatch ncbigene:122618 semapv:UnspecifiedMatching -OMIM:618489 BRD7 skos:exactMatch hgnc:BRD7 semapv:UnspecifiedMatching +OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:14310 semapv:UnspecifiedMatching +OMIM:618489 BRD7 skos:exactMatch hgnc.symbol:BRD7 semapv:UnspecifiedMatching OMIM:618489 BRD7 skos:exactMatch ncbigene:29117 semapv:UnspecifiedMatching -OMIM:618490 GPR107 skos:exactMatch hgnc:GPR107 semapv:UnspecifiedMatching +OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:17830 semapv:UnspecifiedMatching +OMIM:618490 GPR107 skos:exactMatch hgnc.symbol:GPR107 semapv:UnspecifiedMatching OMIM:618490 GPR107 skos:exactMatch ncbigene:57720 semapv:UnspecifiedMatching OMIM:618491 GPR108 skos:exactMatch UMLS:C1425110 semapv:UnspecifiedMatching -OMIM:618491 GPR108 skos:exactMatch hgnc:GPR108 semapv:UnspecifiedMatching +OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:17829 semapv:UnspecifiedMatching +OMIM:618491 GPR108 skos:exactMatch hgnc.symbol:GPR108 semapv:UnspecifiedMatching OMIM:618491 GPR108 skos:exactMatch ncbigene:56927 semapv:UnspecifiedMatching +OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch Orphanet:556955 semapv:UnspecifiedMatching OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch UMLS:C5193131 semapv:UnspecifiedMatching -OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch orphanet.ordo:556955 semapv:UnspecifiedMatching -OMIM:618502 BICRAL skos:exactMatch hgnc:BICRAL semapv:UnspecifiedMatching +OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:21111 semapv:UnspecifiedMatching +OMIM:618502 BICRAL skos:exactMatch hgnc.symbol:BICRAL semapv:UnspecifiedMatching OMIM:618502 BICRAL skos:exactMatch ncbigene:23506 semapv:UnspecifiedMatching -OMIM:618503 POGLUT3 skos:exactMatch hgnc:POGLUT3 semapv:UnspecifiedMatching +OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:28496 semapv:UnspecifiedMatching +OMIM:618503 POGLUT3 skos:exactMatch hgnc.symbol:POGLUT3 semapv:UnspecifiedMatching OMIM:618503 POGLUT3 skos:exactMatch ncbigene:143888 semapv:UnspecifiedMatching -OMIM:618507 WAKMAR1 skos:exactMatch hgnc:WAKMAR1 semapv:UnspecifiedMatching +OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:53753 semapv:UnspecifiedMatching +OMIM:618507 WAKMAR1 skos:exactMatch hgnc.symbol:WAKMAR1 semapv:UnspecifiedMatching OMIM:618507 WAKMAR1 skos:exactMatch ncbigene:105372576 semapv:UnspecifiedMatching -OMIM:618508 WAKMAR2 skos:exactMatch hgnc:WAKMAR2 semapv:UnspecifiedMatching +OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:53754 semapv:UnspecifiedMatching +OMIM:618508 WAKMAR2 skos:exactMatch hgnc.symbol:WAKMAR2 semapv:UnspecifiedMatching OMIM:618508 WAKMAR2 skos:exactMatch ncbigene:100130476 semapv:UnspecifiedMatching -OMIM:618509 OR2M7 skos:exactMatch hgnc:OR2M7 semapv:UnspecifiedMatching +OMIM:618509 OR2M7 skos:exactMatch hgnc.symbol:19594 semapv:UnspecifiedMatching +OMIM:618509 OR2M7 skos:exactMatch hgnc.symbol:OR2M7 semapv:UnspecifiedMatching OMIM:618509 OR2M7 skos:exactMatch ncbigene:391196 semapv:UnspecifiedMatching -OMIM:618510 DYTN skos:exactMatch hgnc:DYTN semapv:UnspecifiedMatching +OMIM:618510 DYTN skos:exactMatch hgnc.symbol:23279 semapv:UnspecifiedMatching +OMIM:618510 DYTN skos:exactMatch hgnc.symbol:DYTN semapv:UnspecifiedMatching OMIM:618510 DYTN skos:exactMatch ncbigene:391475 semapv:UnspecifiedMatching OMIM:618512 o'donnell-luria-rodan syndrome skos:exactMatch UMLS:C5193138 semapv:UnspecifiedMatching -OMIM:618514 BRMS1L skos:exactMatch hgnc:BRMS1L semapv:UnspecifiedMatching +OMIM:618514 BRMS1L skos:exactMatch hgnc.symbol:20512 semapv:UnspecifiedMatching +OMIM:618514 BRMS1L skos:exactMatch hgnc.symbol:BRMS1L semapv:UnspecifiedMatching OMIM:618514 BRMS1L skos:exactMatch ncbigene:84312 semapv:UnspecifiedMatching -OMIM:618515 TMEM33 skos:exactMatch hgnc:TMEM33 semapv:UnspecifiedMatching +OMIM:618515 TMEM33 skos:exactMatch hgnc.symbol:25541 semapv:UnspecifiedMatching +OMIM:618515 TMEM33 skos:exactMatch hgnc.symbol:TMEM33 semapv:UnspecifiedMatching OMIM:618515 TMEM33 skos:exactMatch ncbigene:55161 semapv:UnspecifiedMatching -OMIM:618516 OR14I1 skos:exactMatch hgnc:OR14I1 semapv:UnspecifiedMatching +OMIM:618516 OR14I1 skos:exactMatch hgnc.symbol:19575 semapv:UnspecifiedMatching +OMIM:618516 OR14I1 skos:exactMatch hgnc.symbol:OR14I1 semapv:UnspecifiedMatching OMIM:618516 OR14I1 skos:exactMatch ncbigene:401994 semapv:UnspecifiedMatching OMIM:618517 ANGPTL7 skos:exactMatch UMLS:C1538275 semapv:UnspecifiedMatching -OMIM:618517 ANGPTL7 skos:exactMatch hgnc:ANGPTL7 semapv:UnspecifiedMatching +OMIM:618517 ANGPTL7 skos:exactMatch hgnc.symbol:24078 semapv:UnspecifiedMatching +OMIM:618517 ANGPTL7 skos:exactMatch hgnc.symbol:ANGPTL7 semapv:UnspecifiedMatching OMIM:618517 ANGPTL7 skos:exactMatch ncbigene:10218 semapv:UnspecifiedMatching -OMIM:618518 LINC00261 skos:exactMatch hgnc:LINC00261 semapv:UnspecifiedMatching +OMIM:618518 LINC00261 skos:exactMatch hgnc.symbol:16189 semapv:UnspecifiedMatching +OMIM:618518 LINC00261 skos:exactMatch hgnc.symbol:LINC00261 semapv:UnspecifiedMatching OMIM:618518 LINC00261 skos:exactMatch ncbigene:140828 semapv:UnspecifiedMatching -OMIM:618519 C2ORF68 skos:exactMatch hgnc:C2orf68 semapv:UnspecifiedMatching +OMIM:618519 C2ORF68 skos:exactMatch hgnc.symbol:34353 semapv:UnspecifiedMatching +OMIM:618519 C2ORF68 skos:exactMatch hgnc.symbol:C2orf68 semapv:UnspecifiedMatching OMIM:618519 C2ORF68 skos:exactMatch ncbigene:388969 semapv:UnspecifiedMatching -OMIM:618520 EFCAB9 skos:exactMatch hgnc:EFCAB9 semapv:UnspecifiedMatching +OMIM:618520 EFCAB9 skos:exactMatch hgnc.symbol:34530 semapv:UnspecifiedMatching +OMIM:618520 EFCAB9 skos:exactMatch hgnc.symbol:EFCAB9 semapv:UnspecifiedMatching OMIM:618520 EFCAB9 skos:exactMatch ncbigene:285588 semapv:UnspecifiedMatching -OMIM:618521 ARMC8 skos:exactMatch hgnc:ARMC8 semapv:UnspecifiedMatching +OMIM:618521 ARMC8 skos:exactMatch hgnc.symbol:24999 semapv:UnspecifiedMatching +OMIM:618521 ARMC8 skos:exactMatch hgnc.symbol:ARMC8 semapv:UnspecifiedMatching OMIM:618521 ARMC8 skos:exactMatch ncbigene:25852 semapv:UnspecifiedMatching OMIM:618522 intellectual developmental disorder, autosomal dominant 59 skos:exactMatch UMLS:C5193190 semapv:UnspecifiedMatching OMIM:618523 hyper-ige syndrome 4b, autosomal recessive, with recurrent infections skos:exactMatch UMLS:C5193141 semapv:UnspecifiedMatching -OMIM:618525 CCDC33 skos:exactMatch hgnc:CCDC33 semapv:UnspecifiedMatching +OMIM:618525 CCDC33 skos:exactMatch hgnc.symbol:26552 semapv:UnspecifiedMatching +OMIM:618525 CCDC33 skos:exactMatch hgnc.symbol:CCDC33 semapv:UnspecifiedMatching OMIM:618525 CCDC33 skos:exactMatch ncbigene:80125 semapv:UnspecifiedMatching -OMIM:618526 PEAK3 skos:exactMatch hgnc:PEAK3 semapv:UnspecifiedMatching +OMIM:618526 PEAK3 skos:exactMatch hgnc.symbol:24793 semapv:UnspecifiedMatching +OMIM:618526 PEAK3 skos:exactMatch hgnc.symbol:PEAK3 semapv:UnspecifiedMatching OMIM:618526 PEAK3 skos:exactMatch ncbigene:374872 semapv:UnspecifiedMatching OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:exactMatch UMLS:C5193147 semapv:UnspecifiedMatching -OMIM:618530 STKLD1 skos:exactMatch hgnc:STKLD1 semapv:UnspecifiedMatching +OMIM:618530 STKLD1 skos:exactMatch hgnc.symbol:28669 semapv:UnspecifiedMatching +OMIM:618530 STKLD1 skos:exactMatch hgnc.symbol:STKLD1 semapv:UnspecifiedMatching OMIM:618530 STKLD1 skos:exactMatch ncbigene:169436 semapv:UnspecifiedMatching -OMIM:618532 CLASRP skos:exactMatch hgnc:CLASRP semapv:UnspecifiedMatching +OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:17731 semapv:UnspecifiedMatching +OMIM:618532 CLASRP skos:exactMatch hgnc.symbol:CLASRP semapv:UnspecifiedMatching OMIM:618532 CLASRP skos:exactMatch ncbigene:11129 semapv:UnspecifiedMatching OMIM:618533 deafness, autosomal dominant 37 skos:exactMatch UMLS:C4760307 semapv:UnspecifiedMatching +OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch Orphanet:3261 semapv:UnspecifiedMatching OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch UMLS:C5231402 semapv:UnspecifiedMatching -OMIM:618534 immunodeficiency 64 with lymphoproliferation skos:exactMatch orphanet.ordo:3261 semapv:UnspecifiedMatching -OMIM:618536 CACTIN skos:exactMatch hgnc:CACTIN semapv:UnspecifiedMatching +OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:29938 semapv:UnspecifiedMatching +OMIM:618536 CACTIN skos:exactMatch hgnc.symbol:CACTIN semapv:UnspecifiedMatching OMIM:618536 CACTIN skos:exactMatch ncbigene:58509 semapv:UnspecifiedMatching -OMIM:618537 AVPI1 skos:exactMatch hgnc:AVPI1 semapv:UnspecifiedMatching +OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:30898 semapv:UnspecifiedMatching +OMIM:618537 AVPI1 skos:exactMatch hgnc.symbol:AVPI1 semapv:UnspecifiedMatching OMIM:618537 AVPI1 skos:exactMatch ncbigene:60370 semapv:UnspecifiedMatching -OMIM:618538 CNRIP1 skos:exactMatch hgnc:CNRIP1 semapv:UnspecifiedMatching +OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:24546 semapv:UnspecifiedMatching +OMIM:618538 CNRIP1 skos:exactMatch hgnc.symbol:CNRIP1 semapv:UnspecifiedMatching OMIM:618538 CNRIP1 skos:exactMatch ncbigene:25927 semapv:UnspecifiedMatching -OMIM:618539 CHERP skos:exactMatch hgnc:CHERP semapv:UnspecifiedMatching +OMIM:618539 CHERP skos:exactMatch hgnc.symbol:16930 semapv:UnspecifiedMatching +OMIM:618539 CHERP skos:exactMatch hgnc.symbol:CHERP semapv:UnspecifiedMatching OMIM:618539 CHERP skos:exactMatch ncbigene:10523 semapv:UnspecifiedMatching -OMIM:618540 CREG2 skos:exactMatch hgnc:CREG2 semapv:UnspecifiedMatching +OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:14272 semapv:UnspecifiedMatching +OMIM:618540 CREG2 skos:exactMatch hgnc.symbol:CREG2 semapv:UnspecifiedMatching OMIM:618540 CREG2 skos:exactMatch ncbigene:200407 semapv:UnspecifiedMatching -OMIM:618542 RABL3 skos:exactMatch hgnc:RABL3 semapv:UnspecifiedMatching +OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:18072 semapv:UnspecifiedMatching +OMIM:618542 RABL3 skos:exactMatch hgnc.symbol:RABL3 semapv:UnspecifiedMatching OMIM:618542 RABL3 skos:exactMatch ncbigene:285282 semapv:UnspecifiedMatching -OMIM:618543 CFAP46 skos:exactMatch hgnc:CFAP46 semapv:UnspecifiedMatching +OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:25247 semapv:UnspecifiedMatching +OMIM:618543 CFAP46 skos:exactMatch hgnc.symbol:CFAP46 semapv:UnspecifiedMatching OMIM:618543 CFAP46 skos:exactMatch ncbigene:54777 semapv:UnspecifiedMatching -OMIM:618544 ZSCAN16 skos:exactMatch hgnc:ZSCAN16 semapv:UnspecifiedMatching +OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:20813 semapv:UnspecifiedMatching +OMIM:618544 ZSCAN16 skos:exactMatch hgnc.symbol:ZSCAN16 semapv:UnspecifiedMatching OMIM:618544 ZSCAN16 skos:exactMatch ncbigene:80345 semapv:UnspecifiedMatching -OMIM:618545 GRPEL2 skos:exactMatch hgnc:GRPEL2 semapv:UnspecifiedMatching +OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:21060 semapv:UnspecifiedMatching +OMIM:618545 GRPEL2 skos:exactMatch hgnc.symbol:GRPEL2 semapv:UnspecifiedMatching OMIM:618545 GRPEL2 skos:exactMatch ncbigene:134266 semapv:UnspecifiedMatching +OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch Orphanet:1934 semapv:UnspecifiedMatching OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch UMLS:C5231405 semapv:UnspecifiedMatching -OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch orphanet.ordo:1934 semapv:UnspecifiedMatching -OMIM:618551 MAP10 skos:exactMatch hgnc:MAP10 semapv:UnspecifiedMatching +OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:29265 semapv:UnspecifiedMatching +OMIM:618551 MAP10 skos:exactMatch hgnc.symbol:MAP10 semapv:UnspecifiedMatching OMIM:618551 MAP10 skos:exactMatch ncbigene:54627 semapv:UnspecifiedMatching -OMIM:618552 SPACA9 skos:exactMatch hgnc:SPACA9 semapv:UnspecifiedMatching +OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:1367 semapv:UnspecifiedMatching +OMIM:618552 SPACA9 skos:exactMatch hgnc.symbol:SPACA9 semapv:UnspecifiedMatching OMIM:618552 SPACA9 skos:exactMatch ncbigene:11092 semapv:UnspecifiedMatching -OMIM:618553 BMNCR skos:exactMatch hgnc:BMNCR semapv:UnspecifiedMatching +OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:54188 semapv:UnspecifiedMatching +OMIM:618553 BMNCR skos:exactMatch hgnc.symbol:BMNCR semapv:UnspecifiedMatching OMIM:618553 BMNCR skos:exactMatch ncbigene:107985249 semapv:UnspecifiedMatching -OMIM:618554 ZNF84 skos:exactMatch hgnc:ZNF84 semapv:UnspecifiedMatching +OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:13159 semapv:UnspecifiedMatching +OMIM:618554 ZNF84 skos:exactMatch hgnc.symbol:ZNF84 semapv:UnspecifiedMatching OMIM:618554 ZNF84 skos:exactMatch ncbigene:7637 semapv:UnspecifiedMatching -OMIM:618556 ENHO skos:exactMatch hgnc:ENHO semapv:UnspecifiedMatching +OMIM:618556 ENHO skos:exactMatch hgnc.symbol:24838 semapv:UnspecifiedMatching +OMIM:618556 ENHO skos:exactMatch hgnc.symbol:ENHO semapv:UnspecifiedMatching OMIM:618556 ENHO skos:exactMatch ncbigene:375704 semapv:UnspecifiedMatching +OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch UMLS:C5231409 semapv:UnspecifiedMatching -OMIM:618557 developmental and epileptic encephalopathy 78 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:618558 GPSM3 skos:exactMatch hgnc:GPSM3 semapv:UnspecifiedMatching +OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:13945 semapv:UnspecifiedMatching +OMIM:618558 GPSM3 skos:exactMatch hgnc.symbol:GPSM3 semapv:UnspecifiedMatching OMIM:618558 GPSM3 skos:exactMatch ncbigene:63940 semapv:UnspecifiedMatching +OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch UMLS:C5231410 semapv:UnspecifiedMatching -OMIM:618559 developmental and epileptic encephalopathy 79 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching -OMIM:618560 B4GALNT4 skos:exactMatch hgnc:B4GALNT4 semapv:UnspecifiedMatching +OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:26315 semapv:UnspecifiedMatching +OMIM:618560 B4GALNT4 skos:exactMatch hgnc.symbol:B4GALNT4 semapv:UnspecifiedMatching OMIM:618560 B4GALNT4 skos:exactMatch ncbigene:338707 semapv:UnspecifiedMatching -OMIM:618561 CWH43 skos:exactMatch hgnc:CWH43 semapv:UnspecifiedMatching +OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:26133 semapv:UnspecifiedMatching +OMIM:618561 CWH43 skos:exactMatch hgnc.symbol:CWH43 semapv:UnspecifiedMatching OMIM:618561 CWH43 skos:exactMatch ncbigene:80157 semapv:UnspecifiedMatching -OMIM:618562 TEX261 skos:exactMatch hgnc:TEX261 semapv:UnspecifiedMatching +OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:30712 semapv:UnspecifiedMatching +OMIM:618562 TEX261 skos:exactMatch hgnc.symbol:TEX261 semapv:UnspecifiedMatching OMIM:618562 TEX261 skos:exactMatch ncbigene:113419 semapv:UnspecifiedMatching -OMIM:618563 SLC10A4 skos:exactMatch hgnc:SLC10A4 semapv:UnspecifiedMatching +OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:22980 semapv:UnspecifiedMatching +OMIM:618563 SLC10A4 skos:exactMatch hgnc.symbol:SLC10A4 semapv:UnspecifiedMatching OMIM:618563 SLC10A4 skos:exactMatch ncbigene:201780 semapv:UnspecifiedMatching -OMIM:618565 H1-7 skos:exactMatch hgnc:H1-7 semapv:UnspecifiedMatching +OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:24893 semapv:UnspecifiedMatching +OMIM:618565 H1-7 skos:exactMatch hgnc.symbol:H1-7 semapv:UnspecifiedMatching OMIM:618565 H1-7 skos:exactMatch ncbigene:341567 semapv:UnspecifiedMatching -OMIM:618566 ANTKMT skos:exactMatch hgnc:ANTKMT semapv:UnspecifiedMatching +OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:14152 semapv:UnspecifiedMatching +OMIM:618566 ANTKMT skos:exactMatch hgnc.symbol:ANTKMT semapv:UnspecifiedMatching OMIM:618566 ANTKMT skos:exactMatch ncbigene:65990 semapv:UnspecifiedMatching OMIM:618567 mitochondrial DNA depletion syndrome 17 skos:exactMatch UMLS:C5231412 semapv:UnspecifiedMatching -OMIM:618568 ATPSCKMT skos:exactMatch hgnc:ATPSCKMT semapv:UnspecifiedMatching +OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:27029 semapv:UnspecifiedMatching +OMIM:618568 ATPSCKMT skos:exactMatch hgnc.symbol:ATPSCKMT semapv:UnspecifiedMatching OMIM:618568 ATPSCKMT skos:exactMatch ncbigene:134145 semapv:UnspecifiedMatching +OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch UMLS:C5231413 semapv:UnspecifiedMatching -OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching -OMIM:618570 TRIM71 skos:exactMatch hgnc:TRIM71 semapv:UnspecifiedMatching +OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:32669 semapv:UnspecifiedMatching +OMIM:618570 TRIM71 skos:exactMatch hgnc.symbol:TRIM71 semapv:UnspecifiedMatching OMIM:618570 TRIM71 skos:exactMatch ncbigene:131405 semapv:UnspecifiedMatching OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch UMLS:C5231414 semapv:UnspecifiedMatching -OMIM:618574 DUPD1 skos:exactMatch hgnc:DUSP29 semapv:UnspecifiedMatching +OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:23481 semapv:UnspecifiedMatching +OMIM:618574 DUPD1 skos:exactMatch hgnc.symbol:DUSP29 semapv:UnspecifiedMatching OMIM:618574 DUPD1 skos:exactMatch ncbigene:338599 semapv:UnspecifiedMatching -OMIM:618575 EMSLR skos:exactMatch hgnc:EMSLR semapv:UnspecifiedMatching +OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:54408 semapv:UnspecifiedMatching +OMIM:618575 EMSLR skos:exactMatch hgnc.symbol:EMSLR semapv:UnspecifiedMatching OMIM:618575 EMSLR skos:exactMatch ncbigene:101927746 semapv:UnspecifiedMatching -OMIM:618576 ZBTB10 skos:exactMatch hgnc:ZBTB10 semapv:UnspecifiedMatching +OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:30953 semapv:UnspecifiedMatching +OMIM:618576 ZBTB10 skos:exactMatch hgnc.symbol:ZBTB10 semapv:UnspecifiedMatching OMIM:618576 ZBTB10 skos:exactMatch ncbigene:65986 semapv:UnspecifiedMatching OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch UMLS:C5231416 semapv:UnspecifiedMatching -OMIM:618579 DMAC2L skos:exactMatch hgnc:DMAC2L semapv:UnspecifiedMatching +OMIM:618579 DMAC2L skos:exactMatch hgnc.symbol:18799 semapv:UnspecifiedMatching +OMIM:618579 DMAC2L skos:exactMatch hgnc.symbol:DMAC2L semapv:UnspecifiedMatching OMIM:618579 DMAC2L skos:exactMatch ncbigene:27109 semapv:UnspecifiedMatching OMIM:618580 developmental and epileptic encephalopathy 80 skos:exactMatch UMLS:C5231418 semapv:UnspecifiedMatching -OMIM:618581 ANKRD34B skos:exactMatch hgnc:ANKRD34B semapv:UnspecifiedMatching +OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:33736 semapv:UnspecifiedMatching +OMIM:618581 ANKRD34B skos:exactMatch hgnc.symbol:ANKRD34B semapv:UnspecifiedMatching OMIM:618581 ANKRD34B skos:exactMatch ncbigene:340120 semapv:UnspecifiedMatching -OMIM:618582 SLC10A5 skos:exactMatch hgnc:SLC10A5 semapv:UnspecifiedMatching +OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:22981 semapv:UnspecifiedMatching +OMIM:618582 SLC10A5 skos:exactMatch hgnc.symbol:SLC10A5 semapv:UnspecifiedMatching OMIM:618582 SLC10A5 skos:exactMatch ncbigene:347051 semapv:UnspecifiedMatching OMIM:618583 MTRES1 skos:exactMatch UMLS:C1425209 semapv:UnspecifiedMatching -OMIM:618583 MTRES1 skos:exactMatch hgnc:MTRES1 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:17971 semapv:UnspecifiedMatching +OMIM:618583 MTRES1 skos:exactMatch hgnc.symbol:MTRES1 semapv:UnspecifiedMatching OMIM:618583 MTRES1 skos:exactMatch ncbigene:51250 semapv:UnspecifiedMatching -OMIM:618584 NME9 skos:exactMatch hgnc:NME9 semapv:UnspecifiedMatching +OMIM:618584 NME9 skos:exactMatch hgnc.symbol:21343 semapv:UnspecifiedMatching +OMIM:618584 NME9 skos:exactMatch hgnc.symbol:NME9 semapv:UnspecifiedMatching OMIM:618584 NME9 skos:exactMatch ncbigene:347736 semapv:UnspecifiedMatching -OMIM:618585 CCDC51 skos:exactMatch hgnc:CCDC51 semapv:UnspecifiedMatching +OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:25714 semapv:UnspecifiedMatching +OMIM:618585 CCDC51 skos:exactMatch hgnc.symbol:CCDC51 semapv:UnspecifiedMatching OMIM:618585 CCDC51 skos:exactMatch ncbigene:79714 semapv:UnspecifiedMatching -OMIM:618586 WDR37 skos:exactMatch hgnc:WDR37 semapv:UnspecifiedMatching +OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:31406 semapv:UnspecifiedMatching +OMIM:618586 WDR37 skos:exactMatch hgnc.symbol:WDR37 semapv:UnspecifiedMatching OMIM:618586 WDR37 skos:exactMatch ncbigene:22884 semapv:UnspecifiedMatching +OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch Orphanet:1942 semapv:UnspecifiedMatching OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch UMLS:C5231497 semapv:UnspecifiedMatching -OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures skos:exactMatch orphanet.ordo:1942 semapv:UnspecifiedMatching -OMIM:618588 PDILT skos:exactMatch hgnc:PDILT semapv:UnspecifiedMatching +OMIM:618588 PDILT skos:exactMatch hgnc.symbol:27338 semapv:UnspecifiedMatching +OMIM:618588 PDILT skos:exactMatch hgnc.symbol:PDILT semapv:UnspecifiedMatching OMIM:618588 PDILT skos:exactMatch ncbigene:204474 semapv:UnspecifiedMatching -OMIM:618589 GKN2 skos:exactMatch hgnc:GKN2 semapv:UnspecifiedMatching +OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:24588 semapv:UnspecifiedMatching +OMIM:618589 GKN2 skos:exactMatch hgnc.symbol:GKN2 semapv:UnspecifiedMatching OMIM:618589 GKN2 skos:exactMatch ncbigene:200504 semapv:UnspecifiedMatching OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis skos:exactMatch UMLS:C5231419 semapv:UnspecifiedMatching OMIM:618591 short sleep, familial natural, 2 skos:exactMatch UMLS:C5231420 semapv:UnspecifiedMatching -OMIM:618592 RNF217 skos:exactMatch hgnc:RNF217 semapv:UnspecifiedMatching +OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:21487 semapv:UnspecifiedMatching +OMIM:618592 RNF217 skos:exactMatch hgnc.symbol:RNF217 semapv:UnspecifiedMatching OMIM:618592 RNF217 skos:exactMatch ncbigene:154214 semapv:UnspecifiedMatching -OMIM:618593 ZNF398 skos:exactMatch hgnc:ZNF398 semapv:UnspecifiedMatching +OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:18373 semapv:UnspecifiedMatching +OMIM:618593 ZNF398 skos:exactMatch hgnc.symbol:ZNF398 semapv:UnspecifiedMatching OMIM:618593 ZNF398 skos:exactMatch ncbigene:57541 semapv:UnspecifiedMatching -OMIM:618595 CKAP4 skos:exactMatch hgnc:CKAP4 semapv:UnspecifiedMatching +OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:16991 semapv:UnspecifiedMatching +OMIM:618595 CKAP4 skos:exactMatch hgnc.symbol:CKAP4 semapv:UnspecifiedMatching OMIM:618595 CKAP4 skos:exactMatch ncbigene:10970 semapv:UnspecifiedMatching OMIM:618596 epilepsy, idiopathic generalized, susceptibility to, 16 skos:exactMatch UMLS:C5231421 semapv:UnspecifiedMatching -OMIM:618597 BEGAIN skos:exactMatch hgnc:BEGAIN semapv:UnspecifiedMatching +OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:24163 semapv:UnspecifiedMatching +OMIM:618597 BEGAIN skos:exactMatch hgnc.symbol:BEGAIN semapv:UnspecifiedMatching OMIM:618597 BEGAIN skos:exactMatch ncbigene:57596 semapv:UnspecifiedMatching -OMIM:618599 CDH24 skos:exactMatch hgnc:CDH24 semapv:UnspecifiedMatching +OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:14265 semapv:UnspecifiedMatching +OMIM:618599 CDH24 skos:exactMatch hgnc.symbol:CDH24 semapv:UnspecifiedMatching OMIM:618599 CDH24 skos:exactMatch ncbigene:64403 semapv:UnspecifiedMatching -OMIM:618600 CABS1 skos:exactMatch hgnc:CABS1 semapv:UnspecifiedMatching +OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:30710 semapv:UnspecifiedMatching +OMIM:618600 CABS1 skos:exactMatch hgnc.symbol:CABS1 semapv:UnspecifiedMatching OMIM:618600 CABS1 skos:exactMatch ncbigene:85438 semapv:UnspecifiedMatching -OMIM:618601 EXO5 skos:exactMatch hgnc:EXO5 semapv:UnspecifiedMatching +OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:26115 semapv:UnspecifiedMatching +OMIM:618601 EXO5 skos:exactMatch hgnc.symbol:EXO5 semapv:UnspecifiedMatching OMIM:618601 EXO5 skos:exactMatch ncbigene:64789 semapv:UnspecifiedMatching -OMIM:618602 ADAM32 skos:exactMatch hgnc:ADAM32 semapv:UnspecifiedMatching +OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:15479 semapv:UnspecifiedMatching +OMIM:618602 ADAM32 skos:exactMatch hgnc.symbol:ADAM32 semapv:UnspecifiedMatching OMIM:618602 ADAM32 skos:exactMatch ncbigene:203102 semapv:UnspecifiedMatching -OMIM:618605 ANKRD9 skos:exactMatch hgnc:ANKRD9 semapv:UnspecifiedMatching +OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:20096 semapv:UnspecifiedMatching +OMIM:618605 ANKRD9 skos:exactMatch hgnc.symbol:ANKRD9 semapv:UnspecifiedMatching OMIM:618605 ANKRD9 skos:exactMatch ncbigene:122416 semapv:UnspecifiedMatching -OMIM:618607 YJEFN3 skos:exactMatch hgnc:YJEFN3 semapv:UnspecifiedMatching +OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:24785 semapv:UnspecifiedMatching +OMIM:618607 YJEFN3 skos:exactMatch hgnc.symbol:YJEFN3 semapv:UnspecifiedMatching OMIM:618607 YJEFN3 skos:exactMatch ncbigene:374887 semapv:UnspecifiedMatching OMIM:618608 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch UMLS:C5231426 semapv:UnspecifiedMatching -OMIM:618609 HEMK1 skos:exactMatch hgnc:HEMK1 semapv:UnspecifiedMatching +OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:24923 semapv:UnspecifiedMatching +OMIM:618609 HEMK1 skos:exactMatch hgnc.symbol:HEMK1 semapv:UnspecifiedMatching OMIM:618609 HEMK1 skos:exactMatch ncbigene:51409 semapv:UnspecifiedMatching -OMIM:618610 HMBOX1 skos:exactMatch hgnc:HMBOX1 semapv:UnspecifiedMatching +OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:26137 semapv:UnspecifiedMatching +OMIM:618610 HMBOX1 skos:exactMatch hgnc.symbol:HMBOX1 semapv:UnspecifiedMatching OMIM:618610 HMBOX1 skos:exactMatch ncbigene:79618 semapv:UnspecifiedMatching -OMIM:618611 HROB skos:exactMatch hgnc:HROB semapv:UnspecifiedMatching +OMIM:618611 HROB skos:exactMatch hgnc.symbol:28460 semapv:UnspecifiedMatching +OMIM:618611 HROB skos:exactMatch hgnc.symbol:HROB semapv:UnspecifiedMatching OMIM:618611 HROB skos:exactMatch ncbigene:78995 semapv:UnspecifiedMatching -OMIM:618614 CBY2 skos:exactMatch hgnc:CBY2 semapv:UnspecifiedMatching +OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:30720 semapv:UnspecifiedMatching +OMIM:618614 CBY2 skos:exactMatch hgnc.symbol:CBY2 semapv:UnspecifiedMatching OMIM:618614 CBY2 skos:exactMatch ncbigene:220082 semapv:UnspecifiedMatching -OMIM:618615 HEIH skos:exactMatch hgnc:HEIH semapv:UnspecifiedMatching +OMIM:618615 HEIH skos:exactMatch hgnc.symbol:45049 semapv:UnspecifiedMatching +OMIM:618615 HEIH skos:exactMatch hgnc.symbol:HEIH semapv:UnspecifiedMatching OMIM:618615 HEIH skos:exactMatch ncbigene:100859930 semapv:UnspecifiedMatching -OMIM:618616 MAPK15 skos:exactMatch hgnc:MAPK15 semapv:UnspecifiedMatching +OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:24667 semapv:UnspecifiedMatching +OMIM:618616 MAPK15 skos:exactMatch hgnc.symbol:MAPK15 semapv:UnspecifiedMatching OMIM:618616 MAPK15 skos:exactMatch ncbigene:225689 semapv:UnspecifiedMatching -OMIM:618617 ZNHIT1 skos:exactMatch hgnc:ZNHIT1 semapv:UnspecifiedMatching +OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:21688 semapv:UnspecifiedMatching +OMIM:618617 ZNHIT1 skos:exactMatch hgnc.symbol:ZNHIT1 semapv:UnspecifiedMatching OMIM:618617 ZNHIT1 skos:exactMatch ncbigene:10467 semapv:UnspecifiedMatching -OMIM:618621 ZDHHC2 skos:exactMatch hgnc:ZDHHC2 semapv:UnspecifiedMatching +OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:18469 semapv:UnspecifiedMatching +OMIM:618621 ZDHHC2 skos:exactMatch hgnc.symbol:ZDHHC2 semapv:UnspecifiedMatching OMIM:618621 ZDHHC2 skos:exactMatch ncbigene:51201 semapv:UnspecifiedMatching -OMIM:618623 HIGD1A skos:exactMatch hgnc:HIGD1A semapv:UnspecifiedMatching +OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:29527 semapv:UnspecifiedMatching +OMIM:618623 HIGD1A skos:exactMatch hgnc.symbol:HIGD1A semapv:UnspecifiedMatching OMIM:618623 HIGD1A skos:exactMatch ncbigene:25994 semapv:UnspecifiedMatching +OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch Orphanet:221008 semapv:UnspecifiedMatching OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C0032339 semapv:UnspecifiedMatching OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch UMLS:C5231433 semapv:UnspecifiedMatching -OMIM:618625 rothmund-thomson syndrome, iia 1 skos:exactMatch orphanet.ordo:221008 semapv:UnspecifiedMatching -OMIM:618626 PCIF1 skos:exactMatch hgnc:PCIF1 semapv:UnspecifiedMatching +OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:16200 semapv:UnspecifiedMatching +OMIM:618626 PCIF1 skos:exactMatch hgnc.symbol:PCIF1 semapv:UnspecifiedMatching OMIM:618626 PCIF1 skos:exactMatch ncbigene:63935 semapv:UnspecifiedMatching -OMIM:618627 GMCL1 skos:exactMatch hgnc:GMCL1 semapv:UnspecifiedMatching +OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:23843 semapv:UnspecifiedMatching +OMIM:618627 GMCL1 skos:exactMatch hgnc.symbol:GMCL1 semapv:UnspecifiedMatching OMIM:618627 GMCL1 skos:exactMatch ncbigene:64395 semapv:UnspecifiedMatching -OMIM:618628 METTL5 skos:exactMatch hgnc:METTL5 semapv:UnspecifiedMatching +OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:25006 semapv:UnspecifiedMatching +OMIM:618628 METTL5 skos:exactMatch hgnc.symbol:METTL5 semapv:UnspecifiedMatching OMIM:618628 METTL5 skos:exactMatch ncbigene:29081 semapv:UnspecifiedMatching -OMIM:618629 GMCL2 skos:exactMatch hgnc:GMCL2 semapv:UnspecifiedMatching +OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:19717 semapv:UnspecifiedMatching +OMIM:618629 GMCL2 skos:exactMatch hgnc.symbol:GMCL2 semapv:UnspecifiedMatching OMIM:618629 GMCL2 skos:exactMatch ncbigene:64396 semapv:UnspecifiedMatching -OMIM:618630 TRMT112 skos:exactMatch hgnc:TRMT112 semapv:UnspecifiedMatching +OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:26940 semapv:UnspecifiedMatching +OMIM:618630 TRMT112 skos:exactMatch hgnc.symbol:TRMT112 semapv:UnspecifiedMatching OMIM:618630 TRMT112 skos:exactMatch ncbigene:51504 semapv:UnspecifiedMatching -OMIM:618631 NRDE2 skos:exactMatch hgnc:NRDE2 semapv:UnspecifiedMatching +OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:20186 semapv:UnspecifiedMatching +OMIM:618631 NRDE2 skos:exactMatch hgnc.symbol:NRDE2 semapv:UnspecifiedMatching OMIM:618631 NRDE2 skos:exactMatch ncbigene:55051 semapv:UnspecifiedMatching -OMIM:618633 SLC5A4 skos:exactMatch hgnc:SLC5A4 semapv:UnspecifiedMatching +OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:11039 semapv:UnspecifiedMatching +OMIM:618633 SLC5A4 skos:exactMatch hgnc.symbol:SLC5A4 semapv:UnspecifiedMatching OMIM:618633 SLC5A4 skos:exactMatch ncbigene:6527 semapv:UnspecifiedMatching -OMIM:618634 DLEU7 skos:exactMatch hgnc:DLEU7 semapv:UnspecifiedMatching +OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:17567 semapv:UnspecifiedMatching +OMIM:618634 DLEU7 skos:exactMatch hgnc.symbol:DLEU7 semapv:UnspecifiedMatching OMIM:618634 DLEU7 skos:exactMatch ncbigene:220107 semapv:UnspecifiedMatching -OMIM:618636 SLC5A10 skos:exactMatch hgnc:SLC5A10 semapv:UnspecifiedMatching +OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:23155 semapv:UnspecifiedMatching +OMIM:618636 SLC5A10 skos:exactMatch hgnc.symbol:SLC5A10 semapv:UnspecifiedMatching OMIM:618636 SLC5A10 skos:exactMatch ncbigene:125206 semapv:UnspecifiedMatching OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching -OMIM:618638 HECTD3 skos:exactMatch hgnc:HECTD3 semapv:UnspecifiedMatching +OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:26117 semapv:UnspecifiedMatching +OMIM:618638 HECTD3 skos:exactMatch hgnc.symbol:HECTD3 semapv:UnspecifiedMatching OMIM:618638 HECTD3 skos:exactMatch ncbigene:79654 semapv:UnspecifiedMatching OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C3890651 semapv:UnspecifiedMatching OMIM:618639 NUTM2BAS1 skos:exactMatch UMLS:C5231436 semapv:UnspecifiedMatching -OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc:NUTM2B-AS1 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:51204 semapv:UnspecifiedMatching +OMIM:618639 NUTM2BAS1 skos:exactMatch hgnc.symbol:NUTM2B-AS1 semapv:UnspecifiedMatching OMIM:618639 NUTM2BAS1 skos:exactMatch ncbigene:101060691 semapv:UnspecifiedMatching -OMIM:618640 ZC3H3 skos:exactMatch hgnc:ZC3H3 semapv:UnspecifiedMatching +OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:28972 semapv:UnspecifiedMatching +OMIM:618640 ZC3H3 skos:exactMatch hgnc.symbol:ZC3H3 semapv:UnspecifiedMatching OMIM:618640 ZC3H3 skos:exactMatch ncbigene:23144 semapv:UnspecifiedMatching OMIM:618642 SH3RF1 skos:exactMatch UMLS:C1822713 semapv:UnspecifiedMatching -OMIM:618642 SH3RF1 skos:exactMatch hgnc:SH3RF1 semapv:UnspecifiedMatching +OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:17650 semapv:UnspecifiedMatching +OMIM:618642 SH3RF1 skos:exactMatch hgnc.symbol:SH3RF1 semapv:UnspecifiedMatching OMIM:618642 SH3RF1 skos:exactMatch ncbigene:57630 semapv:UnspecifiedMatching OMIM:618644 osteogenesis imperfecta, iia 20 skos:exactMatch UMLS:C5231439 semapv:UnspecifiedMatching -OMIM:618645 PHF12 skos:exactMatch hgnc:PHF12 semapv:UnspecifiedMatching +OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:20816 semapv:UnspecifiedMatching +OMIM:618645 PHF12 skos:exactMatch hgnc.symbol:PHF12 semapv:UnspecifiedMatching OMIM:618645 PHF12 skos:exactMatch ncbigene:57649 semapv:UnspecifiedMatching -OMIM:618647 C1QTNF2 skos:exactMatch hgnc:C1QTNF2 semapv:UnspecifiedMatching +OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:14325 semapv:UnspecifiedMatching +OMIM:618647 C1QTNF2 skos:exactMatch hgnc.symbol:C1QTNF2 semapv:UnspecifiedMatching OMIM:618647 C1QTNF2 skos:exactMatch ncbigene:114898 semapv:UnspecifiedMatching -OMIM:618649 HECTD1 skos:exactMatch hgnc:HECTD1 semapv:UnspecifiedMatching +OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:20157 semapv:UnspecifiedMatching +OMIM:618649 HECTD1 skos:exactMatch hgnc.symbol:HECTD1 semapv:UnspecifiedMatching OMIM:618649 HECTD1 skos:exactMatch ncbigene:25831 semapv:UnspecifiedMatching -OMIM:618650 RNF169 skos:exactMatch hgnc:RNF169 semapv:UnspecifiedMatching +OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:26961 semapv:UnspecifiedMatching +OMIM:618650 RNF169 skos:exactMatch hgnc.symbol:RNF169 semapv:UnspecifiedMatching OMIM:618650 RNF169 skos:exactMatch ncbigene:254225 semapv:UnspecifiedMatching +OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch UMLS:C5231444 semapv:UnspecifiedMatching -OMIM:618653 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching OMIM:618654 congenital myopathy 8 skos:exactMatch UMLS:C5231445 semapv:UnspecifiedMatching -OMIM:618656 PERCC1 skos:exactMatch hgnc:PERCC1 semapv:UnspecifiedMatching +OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:52293 semapv:UnspecifiedMatching +OMIM:618656 PERCC1 skos:exactMatch hgnc.symbol:PERCC1 semapv:UnspecifiedMatching OMIM:618656 PERCC1 skos:exactMatch ncbigene:105371045 semapv:UnspecifiedMatching -OMIM:618657 LARP4 skos:exactMatch hgnc:LARP4 semapv:UnspecifiedMatching +OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:24320 semapv:UnspecifiedMatching +OMIM:618657 LARP4 skos:exactMatch hgnc.symbol:LARP4 semapv:UnspecifiedMatching OMIM:618657 LARP4 skos:exactMatch ncbigene:113251 semapv:UnspecifiedMatching +OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch Orphanet:3473 semapv:UnspecifiedMatching OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch UMLS:C5231447 semapv:UnspecifiedMatching -OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch orphanet.ordo:3473 semapv:UnspecifiedMatching +OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching -OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching -OMIM:618661 CFAP70 skos:exactMatch hgnc:CFAP70 semapv:UnspecifiedMatching +OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:30726 semapv:UnspecifiedMatching +OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:CFAP70 semapv:UnspecifiedMatching OMIM:618661 CFAP70 skos:exactMatch ncbigene:118491 semapv:UnspecifiedMatching OMIM:618663 developmental and epileptic encephalopathy 81 skos:exactMatch UMLS:C5231450 semapv:UnspecifiedMatching +OMIM:618664 spermatogenic failure 40 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:618664 spermatogenic failure 40 skos:exactMatch UMLS:C5231451 semapv:UnspecifiedMatching -OMIM:618664 spermatogenic failure 40 skos:exactMatch orphanet.ordo:276234 semapv:UnspecifiedMatching +OMIM:618666 sitosterolemia 2 skos:exactMatch Orphanet:2882 semapv:UnspecifiedMatching OMIM:618666 sitosterolemia 2 skos:exactMatch UMLS:C5231453 semapv:UnspecifiedMatching -OMIM:618666 sitosterolemia 2 skos:exactMatch orphanet.ordo:2882 semapv:UnspecifiedMatching -OMIM:618668 GABRR3 skos:exactMatch hgnc:GABRR3 semapv:UnspecifiedMatching +OMIM:618668 GABRR3 skos:exactMatch hgnc.symbol:17969 semapv:UnspecifiedMatching +OMIM:618668 GABRR3 skos:exactMatch hgnc.symbol:GABRR3 semapv:UnspecifiedMatching OMIM:618668 GABRR3 skos:exactMatch ncbigene:200959 semapv:UnspecifiedMatching OMIM:618669 YTHDF3 skos:exactMatch UMLS:C1538136 semapv:UnspecifiedMatching -OMIM:618669 YTHDF3 skos:exactMatch hgnc:YTHDF3 semapv:UnspecifiedMatching +OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:26465 semapv:UnspecifiedMatching +OMIM:618669 YTHDF3 skos:exactMatch hgnc.symbol:YTHDF3 semapv:UnspecifiedMatching OMIM:618669 YTHDF3 skos:exactMatch ncbigene:253943 semapv:UnspecifiedMatching OMIM:618671 ZDHHC19 skos:exactMatch UMLS:C1427090 semapv:UnspecifiedMatching -OMIM:618671 ZDHHC19 skos:exactMatch hgnc:ZDHHC19 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:20713 semapv:UnspecifiedMatching +OMIM:618671 ZDHHC19 skos:exactMatch hgnc.symbol:ZDHHC19 semapv:UnspecifiedMatching OMIM:618671 ZDHHC19 skos:exactMatch ncbigene:131540 semapv:UnspecifiedMatching OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:exactMatch UMLS:C5231456 semapv:UnspecifiedMatching -OMIM:618673 ZYG11B skos:exactMatch hgnc:ZYG11B semapv:UnspecifiedMatching +OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:25820 semapv:UnspecifiedMatching +OMIM:618673 ZYG11B skos:exactMatch hgnc.symbol:ZYG11B semapv:UnspecifiedMatching OMIM:618673 ZYG11B skos:exactMatch ncbigene:79699 semapv:UnspecifiedMatching -OMIM:618675 ZYG11A skos:exactMatch hgnc:ZYG11A semapv:UnspecifiedMatching +OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:32058 semapv:UnspecifiedMatching +OMIM:618675 ZYG11A skos:exactMatch hgnc.symbol:ZYG11A semapv:UnspecifiedMatching OMIM:618675 ZYG11A skos:exactMatch ncbigene:440590 semapv:UnspecifiedMatching -OMIM:618676 ZBTB43 skos:exactMatch hgnc:ZBTB43 semapv:UnspecifiedMatching +OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:17908 semapv:UnspecifiedMatching +OMIM:618676 ZBTB43 skos:exactMatch hgnc.symbol:ZBTB43 semapv:UnspecifiedMatching OMIM:618676 ZBTB43 skos:exactMatch ncbigene:23099 semapv:UnspecifiedMatching -OMIM:618678 CES5A skos:exactMatch hgnc:CES5A semapv:UnspecifiedMatching +OMIM:618678 CES5A skos:exactMatch hgnc.symbol:26459 semapv:UnspecifiedMatching +OMIM:618678 CES5A skos:exactMatch hgnc.symbol:CES5A semapv:UnspecifiedMatching OMIM:618678 CES5A skos:exactMatch ncbigene:221223 semapv:UnspecifiedMatching -OMIM:618679 GFRA4 skos:exactMatch hgnc:GFRA4 semapv:UnspecifiedMatching +OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:13821 semapv:UnspecifiedMatching +OMIM:618679 GFRA4 skos:exactMatch hgnc.symbol:GFRA4 semapv:UnspecifiedMatching OMIM:618679 GFRA4 skos:exactMatch ncbigene:64096 semapv:UnspecifiedMatching OMIM:618680 pancreatic cancer, susceptibility to, 5 skos:exactMatch UMLS:C5231459 semapv:UnspecifiedMatching OMIM:618682 CFAP276 skos:exactMatch UMLS:C1823808 semapv:UnspecifiedMatching -OMIM:618682 CFAP276 skos:exactMatch hgnc:CFAP276 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:32331 semapv:UnspecifiedMatching +OMIM:618682 CFAP276 skos:exactMatch hgnc.symbol:CFAP276 semapv:UnspecifiedMatching OMIM:618682 CFAP276 skos:exactMatch ncbigene:127003 semapv:UnspecifiedMatching -OMIM:618685 TMEM63A skos:exactMatch hgnc:TMEM63A semapv:UnspecifiedMatching +OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:29118 semapv:UnspecifiedMatching +OMIM:618685 TMEM63A skos:exactMatch hgnc.symbol:TMEM63A semapv:UnspecifiedMatching OMIM:618685 TMEM63A skos:exactMatch ncbigene:9725 semapv:UnspecifiedMatching -OMIM:618686 TEKT5 skos:exactMatch hgnc:TEKT5 semapv:UnspecifiedMatching +OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:26554 semapv:UnspecifiedMatching +OMIM:618686 TEKT5 skos:exactMatch hgnc.symbol:TEKT5 semapv:UnspecifiedMatching OMIM:618686 TEKT5 skos:exactMatch ncbigene:146279 semapv:UnspecifiedMatching OMIM:618689 NTNG2 skos:exactMatch UMLS:C1422545 semapv:UnspecifiedMatching OMIM:618689 NTNG2 skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching -OMIM:618689 NTNG2 skos:exactMatch hgnc:NTNG2 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:14288 semapv:UnspecifiedMatching +OMIM:618689 NTNG2 skos:exactMatch hgnc.symbol:NTNG2 semapv:UnspecifiedMatching OMIM:618689 NTNG2 skos:exactMatch ncbigene:84628 semapv:UnspecifiedMatching -OMIM:618690 PSORS1C3 skos:exactMatch hgnc:PSORS1C3 semapv:UnspecifiedMatching +OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:17203 semapv:UnspecifiedMatching +OMIM:618690 PSORS1C3 skos:exactMatch hgnc.symbol:PSORS1C3 semapv:UnspecifiedMatching OMIM:618690 PSORS1C3 skos:exactMatch ncbigene:100130889 semapv:UnspecifiedMatching -OMIM:618691 TMEM266 skos:exactMatch hgnc:TMEM266 semapv:UnspecifiedMatching +OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:26763 semapv:UnspecifiedMatching +OMIM:618691 TMEM266 skos:exactMatch hgnc.symbol:TMEM266 semapv:UnspecifiedMatching OMIM:618691 TMEM266 skos:exactMatch ncbigene:123591 semapv:UnspecifiedMatching OMIM:618692 VGLL4 skos:exactMatch UMLS:C1540180 semapv:UnspecifiedMatching -OMIM:618692 VGLL4 skos:exactMatch hgnc:VGLL4 semapv:UnspecifiedMatching +OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:28966 semapv:UnspecifiedMatching +OMIM:618692 VGLL4 skos:exactMatch hgnc.symbol:VGLL4 semapv:UnspecifiedMatching OMIM:618692 VGLL4 skos:exactMatch ncbigene:9686 semapv:UnspecifiedMatching -OMIM:618693 CELA3A skos:exactMatch hgnc:CELA3A semapv:UnspecifiedMatching +OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:15944 semapv:UnspecifiedMatching +OMIM:618693 CELA3A skos:exactMatch hgnc.symbol:CELA3A semapv:UnspecifiedMatching OMIM:618693 CELA3A skos:exactMatch ncbigene:10136 semapv:UnspecifiedMatching OMIM:618694 CELA3B skos:exactMatch UMLS:C1423849 semapv:UnspecifiedMatching OMIM:618694 CELA3B skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618694 CELA3B skos:exactMatch hgnc:CELA3B semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:15945 semapv:UnspecifiedMatching +OMIM:618694 CELA3B skos:exactMatch hgnc.symbol:CELA3B semapv:UnspecifiedMatching OMIM:618694 CELA3B skos:exactMatch ncbigene:23436 semapv:UnspecifiedMatching -OMIM:618696 GFY skos:exactMatch hgnc:GFY semapv:UnspecifiedMatching +OMIM:618696 GFY skos:exactMatch hgnc.symbol:44663 semapv:UnspecifiedMatching +OMIM:618696 GFY skos:exactMatch hgnc.symbol:GFY semapv:UnspecifiedMatching OMIM:618696 GFY skos:exactMatch ncbigene:100507003 semapv:UnspecifiedMatching +OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch UMLS:C5231465 semapv:UnspecifiedMatching -OMIM:618697 retinitis pigmentosa 87 with choroidal involvement skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching OMIM:618698 DUXB skos:exactMatch UMLS:C2239362 semapv:UnspecifiedMatching -OMIM:618698 DUXB skos:exactMatch hgnc:DUXB semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch hgnc.symbol:33345 semapv:UnspecifiedMatching +OMIM:618698 DUXB skos:exactMatch hgnc.symbol:DUXB semapv:UnspecifiedMatching OMIM:618698 DUXB skos:exactMatch ncbigene:100033411 semapv:UnspecifiedMatching OMIM:618699 ciliary dyskinesia, primary, 43 skos:exactMatch UMLS:C5231466 semapv:UnspecifiedMatching OMIM:618700 CPHXL skos:exactMatch UMLS:C4085168 semapv:UnspecifiedMatching -OMIM:618700 CPHXL skos:exactMatch hgnc:CPHXL semapv:UnspecifiedMatching +OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:51815 semapv:UnspecifiedMatching +OMIM:618700 CPHXL skos:exactMatch hgnc.symbol:CPHXL semapv:UnspecifiedMatching OMIM:618700 CPHXL skos:exactMatch ncbigene:105371346 semapv:UnspecifiedMatching -OMIM:618701 LEUTX skos:exactMatch hgnc:LEUTX semapv:UnspecifiedMatching +OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:31953 semapv:UnspecifiedMatching +OMIM:618701 LEUTX skos:exactMatch hgnc.symbol:LEUTX semapv:UnspecifiedMatching OMIM:618701 LEUTX skos:exactMatch ncbigene:342900 semapv:UnspecifiedMatching OMIM:618702 short stature and microcephaly with genital anomalies skos:exactMatch UMLS:C5231467 semapv:UnspecifiedMatching OMIM:618703 ZNF281 skos:exactMatch UMLS:C1421767 semapv:UnspecifiedMatching -OMIM:618703 ZNF281 skos:exactMatch hgnc:ZNF281 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:13075 semapv:UnspecifiedMatching +OMIM:618703 ZNF281 skos:exactMatch hgnc.symbol:ZNF281 semapv:UnspecifiedMatching OMIM:618703 ZNF281 skos:exactMatch ncbigene:23528 semapv:UnspecifiedMatching OMIM:618704 CFAP221 skos:exactMatch UMLS:C3890126 semapv:UnspecifiedMatching -OMIM:618704 CFAP221 skos:exactMatch hgnc:CFAP221 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:33720 semapv:UnspecifiedMatching +OMIM:618704 CFAP221 skos:exactMatch hgnc.symbol:CFAP221 semapv:UnspecifiedMatching OMIM:618704 CFAP221 skos:exactMatch ncbigene:200373 semapv:UnspecifiedMatching -OMIM:618705 MBTD1 skos:exactMatch hgnc:MBTD1 semapv:UnspecifiedMatching +OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:19866 semapv:UnspecifiedMatching +OMIM:618705 MBTD1 skos:exactMatch hgnc.symbol:MBTD1 semapv:UnspecifiedMatching OMIM:618705 MBTD1 skos:exactMatch ncbigene:54799 semapv:UnspecifiedMatching -OMIM:618706 HOXAAS3 skos:exactMatch hgnc:HOXA-AS3 semapv:UnspecifiedMatching +OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:43748 semapv:UnspecifiedMatching +OMIM:618706 HOXAAS3 skos:exactMatch hgnc.symbol:HOXA-AS3 semapv:UnspecifiedMatching OMIM:618706 HOXAAS3 skos:exactMatch ncbigene:100133311 semapv:UnspecifiedMatching OMIM:618707 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch UMLS:C5231469 semapv:UnspecifiedMatching -OMIM:618708 NBR2 skos:exactMatch hgnc:NBR2 semapv:UnspecifiedMatching +OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:20691 semapv:UnspecifiedMatching +OMIM:618708 NBR2 skos:exactMatch hgnc.symbol:NBR2 semapv:UnspecifiedMatching OMIM:618708 NBR2 skos:exactMatch ncbigene:10230 semapv:UnspecifiedMatching -OMIM:618710 PNO1 skos:exactMatch hgnc:PNO1 semapv:UnspecifiedMatching +OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:32790 semapv:UnspecifiedMatching +OMIM:618710 PNO1 skos:exactMatch hgnc.symbol:PNO1 semapv:UnspecifiedMatching OMIM:618710 PNO1 skos:exactMatch ncbigene:56902 semapv:UnspecifiedMatching -OMIM:618711 METTL15 skos:exactMatch hgnc:METTL15 semapv:UnspecifiedMatching +OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:26606 semapv:UnspecifiedMatching +OMIM:618711 METTL15 skos:exactMatch hgnc.symbol:METTL15 semapv:UnspecifiedMatching OMIM:618711 METTL15 skos:exactMatch ncbigene:196074 semapv:UnspecifiedMatching -OMIM:618712 ANKRD45 skos:exactMatch hgnc:ANKRD45 semapv:UnspecifiedMatching +OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:24786 semapv:UnspecifiedMatching +OMIM:618712 ANKRD45 skos:exactMatch hgnc.symbol:ANKRD45 semapv:UnspecifiedMatching OMIM:618712 ANKRD45 skos:exactMatch ncbigene:339416 semapv:UnspecifiedMatching -OMIM:618713 CYS1 skos:exactMatch hgnc:CYS1 semapv:UnspecifiedMatching +OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:18525 semapv:UnspecifiedMatching +OMIM:618713 CYS1 skos:exactMatch hgnc.symbol:CYS1 semapv:UnspecifiedMatching OMIM:618713 CYS1 skos:exactMatch ncbigene:192668 semapv:UnspecifiedMatching -OMIM:618714 RAP1GAP2 skos:exactMatch hgnc:RAP1GAP2 semapv:UnspecifiedMatching +OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:29176 semapv:UnspecifiedMatching +OMIM:618714 RAP1GAP2 skos:exactMatch hgnc.symbol:RAP1GAP2 semapv:UnspecifiedMatching OMIM:618714 RAP1GAP2 skos:exactMatch ncbigene:23108 semapv:UnspecifiedMatching -OMIM:618715 ZDHHC6 skos:exactMatch hgnc:ZDHHC6 semapv:UnspecifiedMatching +OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:19160 semapv:UnspecifiedMatching +OMIM:618715 ZDHHC6 skos:exactMatch hgnc.symbol:ZDHHC6 semapv:UnspecifiedMatching OMIM:618715 ZDHHC6 skos:exactMatch ncbigene:64429 semapv:UnspecifiedMatching -OMIM:618716 ATG16L2 skos:exactMatch hgnc:ATG16L2 semapv:UnspecifiedMatching +OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:25464 semapv:UnspecifiedMatching +OMIM:618716 ATG16L2 skos:exactMatch hgnc.symbol:ATG16L2 semapv:UnspecifiedMatching OMIM:618716 ATG16L2 skos:exactMatch ncbigene:89849 semapv:UnspecifiedMatching -OMIM:618717 EPGN skos:exactMatch hgnc:EPGN semapv:UnspecifiedMatching +OMIM:618717 EPGN skos:exactMatch hgnc.symbol:17470 semapv:UnspecifiedMatching +OMIM:618717 EPGN skos:exactMatch hgnc.symbol:EPGN semapv:UnspecifiedMatching OMIM:618717 EPGN skos:exactMatch ncbigene:255324 semapv:UnspecifiedMatching OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch UMLS:C5231471 semapv:UnspecifiedMatching OMIM:618719 megabladder, congenital skos:exactMatch UMLS:C5231472 semapv:UnspecifiedMatching -OMIM:618720 PDF skos:exactMatch hgnc:PDF semapv:UnspecifiedMatching +OMIM:618720 PDF skos:exactMatch hgnc.symbol:30012 semapv:UnspecifiedMatching +OMIM:618720 PDF skos:exactMatch hgnc.symbol:PDF semapv:UnspecifiedMatching OMIM:618720 PDF skos:exactMatch ncbigene:64146 semapv:UnspecifiedMatching OMIM:618721 developmental and epileptic encephalopathy 82 skos:exactMatch UMLS:C5231473 semapv:UnspecifiedMatching -OMIM:618722 FAM210B skos:exactMatch hgnc:FAM210B semapv:UnspecifiedMatching +OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:16102 semapv:UnspecifiedMatching +OMIM:618722 FAM210B skos:exactMatch hgnc.symbol:FAM210B semapv:UnspecifiedMatching OMIM:618722 FAM210B skos:exactMatch ncbigene:116151 semapv:UnspecifiedMatching +OMIM:618723 premature ovarian failure 16 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching OMIM:618723 premature ovarian failure 16 skos:exactMatch UMLS:C5231474 semapv:UnspecifiedMatching -OMIM:618723 premature ovarian failure 16 skos:exactMatch orphanet.ordo:243 semapv:UnspecifiedMatching OMIM:618724 heyn-sproul-jackson syndrome skos:exactMatch UMLS:C5231475 semapv:UnspecifiedMatching OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:exactMatch UMLS:C5231476 semapv:UnspecifiedMatching OMIM:618726 NEK10 skos:exactMatch UMLS:C1425630 semapv:UnspecifiedMatching OMIM:618726 NEK10 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching -OMIM:618726 NEK10 skos:exactMatch hgnc:NEK10 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:18592 semapv:UnspecifiedMatching +OMIM:618726 NEK10 skos:exactMatch hgnc.symbol:NEK10 semapv:UnspecifiedMatching OMIM:618726 NEK10 skos:exactMatch ncbigene:152110 semapv:UnspecifiedMatching OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:exactMatch UMLS:C5231477 semapv:UnspecifiedMatching OMIM:618728 spondyloepimetaphyseal dysplasia, isidor-toutain iia skos:exactMatch UMLS:C5231478 semapv:UnspecifiedMatching @@ -40545,247 +56665,297 @@ OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformation OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:exactMatch UMLS:C5231481 semapv:UnspecifiedMatching OMIM:618732 poirier-bienvenu neurodevelopmental syndrome skos:exactMatch UMLS:C5231482 semapv:UnspecifiedMatching OMIM:618733 neuromuscular oculoauditory syndrome skos:exactMatch UMLS:C5231483 semapv:UnspecifiedMatching +OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch UMLS:C5231484 semapv:UnspecifiedMatching -OMIM:618734 aneurysm, intracranial berry, 12 skos:exactMatch orphanet.ordo:231160 semapv:UnspecifiedMatching OMIM:618735 TTC29 skos:exactMatch UMLS:C1823533 semapv:UnspecifiedMatching OMIM:618735 TTC29 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching -OMIM:618735 TTC29 skos:exactMatch hgnc:TTC29 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:29936 semapv:UnspecifiedMatching +OMIM:618735 TTC29 skos:exactMatch hgnc.symbol:TTC29 semapv:UnspecifiedMatching OMIM:618735 TTC29 skos:exactMatch ncbigene:83894 semapv:UnspecifiedMatching OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis skos:exactMatch UMLS:C5231485 semapv:UnspecifiedMatching OMIM:618737 cortical dysplasia, complex, with other brain malformations 15 skos:exactMatch UMLS:C5231486 semapv:UnspecifiedMatching -OMIM:618738 TTLL4 skos:exactMatch hgnc:TTLL4 semapv:UnspecifiedMatching +OMIM:618738 TTLL4 skos:exactMatch hgnc.symbol:28976 semapv:UnspecifiedMatching +OMIM:618738 TTLL4 skos:exactMatch hgnc.symbol:TTLL4 semapv:UnspecifiedMatching OMIM:618738 TTLL4 skos:exactMatch ncbigene:9654 semapv:UnspecifiedMatching OMIM:618739 CTDSPL2 skos:exactMatch UMLS:C1824809 semapv:UnspecifiedMatching -OMIM:618739 CTDSPL2 skos:exactMatch hgnc:CTDSPL2 semapv:UnspecifiedMatching +OMIM:618739 CTDSPL2 skos:exactMatch hgnc.symbol:26936 semapv:UnspecifiedMatching +OMIM:618739 CTDSPL2 skos:exactMatch hgnc.symbol:CTDSPL2 semapv:UnspecifiedMatching OMIM:618739 CTDSPL2 skos:exactMatch ncbigene:51496 semapv:UnspecifiedMatching OMIM:618740 CCDC154 skos:exactMatch UMLS:C2681330 semapv:UnspecifiedMatching -OMIM:618740 CCDC154 skos:exactMatch hgnc:CCDC154 semapv:UnspecifiedMatching +OMIM:618740 CCDC154 skos:exactMatch hgnc.symbol:34454 semapv:UnspecifiedMatching +OMIM:618740 CCDC154 skos:exactMatch hgnc.symbol:CCDC154 semapv:UnspecifiedMatching OMIM:618740 CCDC154 skos:exactMatch ncbigene:645811 semapv:UnspecifiedMatching OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:exactMatch UMLS:C5394027 semapv:UnspecifiedMatching OMIM:618742 ZBTB8A skos:exactMatch UMLS:C1428355 semapv:UnspecifiedMatching -OMIM:618742 ZBTB8A skos:exactMatch hgnc:ZBTB8A semapv:UnspecifiedMatching +OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:24172 semapv:UnspecifiedMatching +OMIM:618742 ZBTB8A skos:exactMatch hgnc.symbol:ZBTB8A semapv:UnspecifiedMatching OMIM:618742 ZBTB8A skos:exactMatch ncbigene:653121 semapv:UnspecifiedMatching OMIM:618743 PLPP7 skos:exactMatch UMLS:C1826651 semapv:UnspecifiedMatching -OMIM:618743 PLPP7 skos:exactMatch hgnc:PLPP7 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:28174 semapv:UnspecifiedMatching +OMIM:618743 PLPP7 skos:exactMatch hgnc.symbol:PLPP7 semapv:UnspecifiedMatching OMIM:618743 PLPP7 skos:exactMatch ncbigene:84814 semapv:UnspecifiedMatching OMIM:618744 developmental and epileptic encephalopathy 83 skos:exactMatch UMLS:C5231487 semapv:UnspecifiedMatching +OMIM:618745 spermatogenic failure 42 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:618745 spermatogenic failure 42 skos:exactMatch UMLS:C5231488 semapv:UnspecifiedMatching -OMIM:618745 spermatogenic failure 42 skos:exactMatch orphanet.ordo:276234 semapv:UnspecifiedMatching OMIM:618746 CTXN3 skos:exactMatch UMLS:C1429082 semapv:UnspecifiedMatching -OMIM:618746 CTXN3 skos:exactMatch hgnc:CTXN3 semapv:UnspecifiedMatching +OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:31110 semapv:UnspecifiedMatching +OMIM:618746 CTXN3 skos:exactMatch hgnc.symbol:CTXN3 semapv:UnspecifiedMatching OMIM:618746 CTXN3 skos:exactMatch ncbigene:613212 semapv:UnspecifiedMatching OMIM:618747 C1ORF61 skos:exactMatch UMLS:C1823207 semapv:UnspecifiedMatching -OMIM:618747 C1ORF61 skos:exactMatch hgnc:MIR9-1HG semapv:UnspecifiedMatching +OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:30780 semapv:UnspecifiedMatching +OMIM:618747 C1ORF61 skos:exactMatch hgnc.symbol:MIR9-1HG semapv:UnspecifiedMatching OMIM:618747 C1ORF61 skos:exactMatch ncbigene:10485 semapv:UnspecifiedMatching OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:exactMatch UMLS:C5231489 semapv:UnspecifiedMatching OMIM:618749 LRRC17 skos:exactMatch UMLS:C1424621 semapv:UnspecifiedMatching -OMIM:618749 LRRC17 skos:exactMatch hgnc:LRRC17 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:16895 semapv:UnspecifiedMatching +OMIM:618749 LRRC17 skos:exactMatch hgnc.symbol:LRRC17 semapv:UnspecifiedMatching OMIM:618749 LRRC17 skos:exactMatch ncbigene:10234 semapv:UnspecifiedMatching OMIM:618750 ABT1 skos:exactMatch UMLS:C1424941 semapv:UnspecifiedMatching -OMIM:618750 ABT1 skos:exactMatch hgnc:ABT1 semapv:UnspecifiedMatching +OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:17369 semapv:UnspecifiedMatching +OMIM:618750 ABT1 skos:exactMatch hgnc.symbol:ABT1 semapv:UnspecifiedMatching OMIM:618750 ABT1 skos:exactMatch ncbigene:29777 semapv:UnspecifiedMatching +OMIM:618751 spermatogenic failure 43 skos:exactMatch Orphanet:276234 semapv:UnspecifiedMatching OMIM:618751 spermatogenic failure 43 skos:exactMatch UMLS:C5231490 semapv:UnspecifiedMatching -OMIM:618751 spermatogenic failure 43 skos:exactMatch orphanet.ordo:276234 semapv:UnspecifiedMatching +OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch UMLS:C5203411 semapv:UnspecifiedMatching -OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant skos:exactMatch orphanet.ordo:486 semapv:UnspecifiedMatching OMIM:618753 LRRC41 skos:exactMatch UMLS:C1825888 semapv:UnspecifiedMatching -OMIM:618753 LRRC41 skos:exactMatch hgnc:LRRC41 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:16917 semapv:UnspecifiedMatching +OMIM:618753 LRRC41 skos:exactMatch hgnc.symbol:LRRC41 semapv:UnspecifiedMatching OMIM:618753 LRRC41 skos:exactMatch ncbigene:10489 semapv:UnspecifiedMatching OMIM:618754 CPQ skos:exactMatch UMLS:C2985237 semapv:UnspecifiedMatching -OMIM:618754 CPQ skos:exactMatch hgnc:CPQ semapv:UnspecifiedMatching +OMIM:618754 CPQ skos:exactMatch hgnc.symbol:16910 semapv:UnspecifiedMatching +OMIM:618754 CPQ skos:exactMatch hgnc.symbol:CPQ semapv:UnspecifiedMatching OMIM:618754 CPQ skos:exactMatch ncbigene:10404 semapv:UnspecifiedMatching OMIM:618755 STMP1 skos:exactMatch UMLS:C3469749 semapv:UnspecifiedMatching -OMIM:618755 STMP1 skos:exactMatch hgnc:STMP1 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:41909 semapv:UnspecifiedMatching +OMIM:618755 STMP1 skos:exactMatch hgnc.symbol:STMP1 semapv:UnspecifiedMatching OMIM:618755 STMP1 skos:exactMatch ncbigene:647087 semapv:UnspecifiedMatching OMIM:618756 ABHD10 skos:exactMatch UMLS:C1538895 semapv:UnspecifiedMatching -OMIM:618756 ABHD10 skos:exactMatch hgnc:ABHD10 semapv:UnspecifiedMatching +OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:25656 semapv:UnspecifiedMatching +OMIM:618756 ABHD10 skos:exactMatch hgnc.symbol:ABHD10 semapv:UnspecifiedMatching OMIM:618756 ABHD10 skos:exactMatch ncbigene:55347 semapv:UnspecifiedMatching OMIM:618757 CYB561A3 skos:exactMatch UMLS:C3543729 semapv:UnspecifiedMatching -OMIM:618757 CYB561A3 skos:exactMatch hgnc:CYB561A3 semapv:UnspecifiedMatching +OMIM:618757 CYB561A3 skos:exactMatch hgnc.symbol:23014 semapv:UnspecifiedMatching +OMIM:618757 CYB561A3 skos:exactMatch hgnc.symbol:CYB561A3 semapv:UnspecifiedMatching OMIM:618757 CYB561A3 skos:exactMatch ncbigene:220002 semapv:UnspecifiedMatching OMIM:618758 DRC3 skos:exactMatch UMLS:C1825895 semapv:UnspecifiedMatching -OMIM:618758 DRC3 skos:exactMatch hgnc:DRC3 semapv:UnspecifiedMatching +OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:25384 semapv:UnspecifiedMatching +OMIM:618758 DRC3 skos:exactMatch hgnc.symbol:DRC3 semapv:UnspecifiedMatching OMIM:618758 DRC3 skos:exactMatch ncbigene:83450 semapv:UnspecifiedMatching OMIM:618759 CABP7 skos:exactMatch UMLS:C1427154 semapv:UnspecifiedMatching -OMIM:618759 CABP7 skos:exactMatch hgnc:CABP7 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:20834 semapv:UnspecifiedMatching +OMIM:618759 CABP7 skos:exactMatch hgnc.symbol:CABP7 semapv:UnspecifiedMatching OMIM:618759 CABP7 skos:exactMatch ncbigene:164633 semapv:UnspecifiedMatching OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:exactMatch UMLS:C5231491 semapv:UnspecifiedMatching OMIM:618761 catifa syndrome skos:exactMatch UMLS:C5231492 semapv:UnspecifiedMatching OMIM:618762 DNPH1 skos:exactMatch UMLS:C1427424 semapv:UnspecifiedMatching -OMIM:618762 DNPH1 skos:exactMatch hgnc:DNPH1 semapv:UnspecifiedMatching +OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:21218 semapv:UnspecifiedMatching +OMIM:618762 DNPH1 skos:exactMatch hgnc.symbol:DNPH1 semapv:UnspecifiedMatching OMIM:618762 DNPH1 skos:exactMatch ncbigene:10591 semapv:UnspecifiedMatching +OMIM:618763 joubert syndrome 36 skos:exactMatch Orphanet:2754 semapv:UnspecifiedMatching OMIM:618763 joubert syndrome 36 skos:exactMatch UMLS:C5231493 semapv:UnspecifiedMatching -OMIM:618763 joubert syndrome 36 skos:exactMatch orphanet.ordo:2754 semapv:UnspecifiedMatching OMIM:618764 CACUL1 skos:exactMatch UMLS:C1428228 semapv:UnspecifiedMatching -OMIM:618764 CACUL1 skos:exactMatch hgnc:CACUL1 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:23727 semapv:UnspecifiedMatching +OMIM:618764 CACUL1 skos:exactMatch hgnc.symbol:CACUL1 semapv:UnspecifiedMatching OMIM:618764 CACUL1 skos:exactMatch ncbigene:143384 semapv:UnspecifiedMatching OMIM:618765 ESF1 skos:exactMatch UMLS:C1825066 semapv:UnspecifiedMatching -OMIM:618765 ESF1 skos:exactMatch hgnc:ESF1 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:15898 semapv:UnspecifiedMatching +OMIM:618765 ESF1 skos:exactMatch hgnc.symbol:ESF1 semapv:UnspecifiedMatching OMIM:618765 ESF1 skos:exactMatch ncbigene:51575 semapv:UnspecifiedMatching OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:exactMatch UMLS:C5231494 semapv:UnspecifiedMatching +OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch Orphanet:98954 semapv:UnspecifiedMatching OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch UMLS:C5231495 semapv:UnspecifiedMatching -OMIM:618767 corneal dystrophy, meesmann, 2 skos:exactMatch orphanet.ordo:98954 semapv:UnspecifiedMatching +OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch Orphanet:506353 semapv:UnspecifiedMatching OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch UMLS:C5394033 semapv:UnspecifiedMatching -OMIM:618768 spastic paraplegia 81, autosomal recessive skos:exactMatch orphanet.ordo:506353 semapv:UnspecifiedMatching OMIM:618769 DRC7 skos:exactMatch UMLS:C1540249 semapv:UnspecifiedMatching -OMIM:618769 DRC7 skos:exactMatch hgnc:DRC7 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:25289 semapv:UnspecifiedMatching +OMIM:618769 DRC7 skos:exactMatch hgnc.symbol:DRC7 semapv:UnspecifiedMatching OMIM:618769 DRC7 skos:exactMatch ncbigene:84229 semapv:UnspecifiedMatching OMIM:618770 spastic paraplegia 82, autosomal recessive skos:exactMatch UMLS:C5394037 semapv:UnspecifiedMatching OMIM:618771 ABHD14A skos:exactMatch UMLS:C1538897 semapv:UnspecifiedMatching -OMIM:618771 ABHD14A skos:exactMatch hgnc:ABHD14A semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:24538 semapv:UnspecifiedMatching +OMIM:618771 ABHD14A skos:exactMatch hgnc.symbol:ABHD14A semapv:UnspecifiedMatching OMIM:618771 ABHD14A skos:exactMatch ncbigene:25864 semapv:UnspecifiedMatching OMIM:618772 CABLES2 skos:exactMatch UMLS:C1424021 semapv:UnspecifiedMatching -OMIM:618772 CABLES2 skos:exactMatch hgnc:CABLES2 semapv:UnspecifiedMatching +OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:16143 semapv:UnspecifiedMatching +OMIM:618772 CABLES2 skos:exactMatch hgnc.symbol:CABLES2 semapv:UnspecifiedMatching OMIM:618772 CABLES2 skos:exactMatch ncbigene:81928 semapv:UnspecifiedMatching OMIM:618773 lymphatic malformation 8 skos:exactMatch UMLS:C5231496 semapv:UnspecifiedMatching OMIM:618774 cebalid syndrome skos:exactMatch UMLS:C5394044 semapv:UnspecifiedMatching +OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch Orphanet:1460 semapv:UnspecifiedMatching OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5394051 semapv:UnspecifiedMatching -OMIM:618775 mitochondrial complex 3 deficiency, nuclear iia 10 skos:exactMatch orphanet.ordo:1460 semapv:UnspecifiedMatching +OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch Orphanet:2609 semapv:UnspecifiedMatching OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch UMLS:C5394053 semapv:UnspecifiedMatching -OMIM:618776 mitochondrial complex 1 deficiency, nuclear iia 34 skos:exactMatch orphanet.ordo:2609 semapv:UnspecifiedMatching OMIM:618777 CAPN8 skos:exactMatch UMLS:C1413118 semapv:UnspecifiedMatching -OMIM:618777 CAPN8 skos:exactMatch hgnc:CAPN8 semapv:UnspecifiedMatching +OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:1485 semapv:UnspecifiedMatching +OMIM:618777 CAPN8 skos:exactMatch hgnc.symbol:CAPN8 semapv:UnspecifiedMatching OMIM:618777 CAPN8 skos:exactMatch ncbigene:388743 semapv:UnspecifiedMatching +OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch UMLS:C5394059 semapv:UnspecifiedMatching -OMIM:618778 deafness, autosomal dominant 75 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching +OMIM:618779 coffin-siris syndrome 11 skos:exactMatch Orphanet:1465 semapv:UnspecifiedMatching OMIM:618779 coffin-siris syndrome 11 skos:exactMatch UMLS:C5241442 semapv:UnspecifiedMatching -OMIM:618779 coffin-siris syndrome 11 skos:exactMatch orphanet.ordo:1465 semapv:UnspecifiedMatching +OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch Orphanet:3303 semapv:UnspecifiedMatching OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch UMLS:C5394062 semapv:UnspecifiedMatching -OMIM:618780 congenital heart defects, multiple types, 7 skos:exactMatch orphanet.ordo:3303 semapv:UnspecifiedMatching +OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch UMLS:C5394063 semapv:UnspecifiedMatching -OMIM:618781 ciliary dyskinesia, primary, 44 skos:exactMatch orphanet.ordo:244 semapv:UnspecifiedMatching OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394068 semapv:UnspecifiedMatching OMIM:618782 long qt syndrome 16 skos:exactMatch UMLS:C5394069 semapv:UnspecifiedMatching OMIM:618783 CCNI skos:exactMatch UMLS:C1413182 semapv:UnspecifiedMatching -OMIM:618783 CCNI skos:exactMatch hgnc:CCNI semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch hgnc.symbol:1595 semapv:UnspecifiedMatching +OMIM:618783 CCNI skos:exactMatch hgnc.symbol:CCNI semapv:UnspecifiedMatching OMIM:618783 CCNI skos:exactMatch ncbigene:10983 semapv:UnspecifiedMatching OMIM:618784 PITHD1 skos:exactMatch UMLS:C1823748 semapv:UnspecifiedMatching -OMIM:618784 PITHD1 skos:exactMatch hgnc:PITHD1 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:25022 semapv:UnspecifiedMatching +OMIM:618784 PITHD1 skos:exactMatch hgnc.symbol:PITHD1 semapv:UnspecifiedMatching OMIM:618784 PITHD1 skos:exactMatch ncbigene:57095 semapv:UnspecifiedMatching OMIM:618785 CDCA2 skos:exactMatch UMLS:C1422795 semapv:UnspecifiedMatching -OMIM:618785 CDCA2 skos:exactMatch hgnc:CDCA2 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:14623 semapv:UnspecifiedMatching +OMIM:618785 CDCA2 skos:exactMatch hgnc.symbol:CDCA2 semapv:UnspecifiedMatching OMIM:618785 CDCA2 skos:exactMatch ncbigene:157313 semapv:UnspecifiedMatching +OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch Orphanet:3447 semapv:UnspecifiedMatching OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch UMLS:C5394073 semapv:UnspecifiedMatching -OMIM:618786 imagawa-matsumoto syndrome skos:exactMatch orphanet.ordo:3447 semapv:UnspecifiedMatching +OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch UMLS:C5394080 semapv:UnspecifiedMatching -OMIM:618787 deafness, autosomal dominant 76 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching OMIM:618788 CCDC134 skos:exactMatch UMLS:C1824660 semapv:UnspecifiedMatching -OMIM:618788 CCDC134 skos:exactMatch hgnc:CCDC134 semapv:UnspecifiedMatching +OMIM:618788 CCDC134 skos:exactMatch hgnc.symbol:26185 semapv:UnspecifiedMatching +OMIM:618788 CCDC134 skos:exactMatch hgnc.symbol:CCDC134 semapv:UnspecifiedMatching OMIM:618788 CCDC134 skos:exactMatch ncbigene:79879 semapv:UnspecifiedMatching OMIM:618789 CDV3 skos:exactMatch UMLS:C1824690 semapv:UnspecifiedMatching -OMIM:618789 CDV3 skos:exactMatch hgnc:CDV3 semapv:UnspecifiedMatching +OMIM:618789 CDV3 skos:exactMatch hgnc.symbol:26928 semapv:UnspecifiedMatching +OMIM:618789 CDV3 skos:exactMatch hgnc.symbol:CDV3 semapv:UnspecifiedMatching OMIM:618789 CDV3 skos:exactMatch ncbigene:55573 semapv:UnspecifiedMatching OMIM:618790 KCTD21 skos:exactMatch UMLS:C1825647 semapv:UnspecifiedMatching -OMIM:618790 KCTD21 skos:exactMatch hgnc:KCTD21 semapv:UnspecifiedMatching +OMIM:618790 KCTD21 skos:exactMatch hgnc.symbol:27452 semapv:UnspecifiedMatching +OMIM:618790 KCTD21 skos:exactMatch hgnc.symbol:KCTD21 semapv:UnspecifiedMatching OMIM:618790 KCTD21 skos:exactMatch ncbigene:283219 semapv:UnspecifiedMatching OMIM:618791 KCTD6 skos:exactMatch UMLS:C1427766 semapv:UnspecifiedMatching -OMIM:618791 KCTD6 skos:exactMatch hgnc:KCTD6 semapv:UnspecifiedMatching +OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:22235 semapv:UnspecifiedMatching +OMIM:618791 KCTD6 skos:exactMatch hgnc.symbol:KCTD6 semapv:UnspecifiedMatching OMIM:618791 KCTD6 skos:exactMatch ncbigene:200845 semapv:UnspecifiedMatching OMIM:618792 developmental and epileptic encephalopathy 84 skos:exactMatch UMLS:C5394081 semapv:UnspecifiedMatching OMIM:618793 intellectual developmental disorder, autosomal dominant 62 skos:exactMatch UMLS:C5394083 semapv:UnspecifiedMatching OMIM:618794 KBTBD11 skos:exactMatch UMLS:C1825643 semapv:UnspecifiedMatching -OMIM:618794 KBTBD11 skos:exactMatch hgnc:KBTBD11 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:29104 semapv:UnspecifiedMatching +OMIM:618794 KBTBD11 skos:exactMatch hgnc.symbol:KBTBD11 semapv:UnspecifiedMatching OMIM:618794 KBTBD11 skos:exactMatch ncbigene:9920 semapv:UnspecifiedMatching +OMIM:618795 juvenile arthritis skos:exactMatch Orphanet:85414 semapv:UnspecifiedMatching OMIM:618795 juvenile arthritis skos:exactMatch UMLS:C3495559 semapv:UnspecifiedMatching -OMIM:618795 juvenile arthritis skos:exactMatch orphanet.ordo:85414 semapv:UnspecifiedMatching OMIM:618796 SAC3D1 skos:exactMatch UMLS:C1539720 semapv:UnspecifiedMatching -OMIM:618796 SAC3D1 skos:exactMatch hgnc:SAC3D1 semapv:UnspecifiedMatching +OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:30179 semapv:UnspecifiedMatching +OMIM:618796 SAC3D1 skos:exactMatch hgnc.symbol:SAC3D1 semapv:UnspecifiedMatching OMIM:618796 SAC3D1 skos:exactMatch ncbigene:29901 semapv:UnspecifiedMatching OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:exactMatch UMLS:C5394091 semapv:UnspecifiedMatching OMIM:618798 beck-fahrner syndrome skos:exactMatch UMLS:C5394097 semapv:UnspecifiedMatching OMIM:618799 CAPSL skos:exactMatch UMLS:C1824527 semapv:UnspecifiedMatching -OMIM:618799 CAPSL skos:exactMatch hgnc:CAPSL semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:28375 semapv:UnspecifiedMatching +OMIM:618799 CAPSL skos:exactMatch hgnc.symbol:CAPSL semapv:UnspecifiedMatching OMIM:618799 CAPSL skos:exactMatch ncbigene:133690 semapv:UnspecifiedMatching OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching +OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch Orphanet:244 semapv:UnspecifiedMatching OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch UMLS:C5394104 semapv:UnspecifiedMatching -OMIM:618801 ciliary dyskinesia, primary, 45 skos:exactMatch orphanet.ordo:244 semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch UMLS:C1823272 semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch UMLS:C5394101 semapv:UnspecifiedMatching -OMIM:618802 THG1L skos:exactMatch hgnc:THG1L semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch hgnc.symbol:26053 semapv:UnspecifiedMatching +OMIM:618802 THG1L skos:exactMatch hgnc.symbol:THG1L semapv:UnspecifiedMatching OMIM:618802 THG1L skos:exactMatch ncbigene:54974 semapv:UnspecifiedMatching OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital skos:exactMatch UMLS:C5394112 semapv:UnspecifiedMatching OMIM:618804 sandestig-stefanova syndrome skos:exactMatch UMLS:C5394118 semapv:UnspecifiedMatching OMIM:618805 triokinase and fmn cyclase deficiency syndrome skos:exactMatch UMLS:C5394125 semapv:UnspecifiedMatching +OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch Orphanet:169095 semapv:UnspecifiedMatching OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch UMLS:C5394133 semapv:UnspecifiedMatching -OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:exactMatch orphanet.ordo:169095 semapv:UnspecifiedMatching OMIM:618807 lipoprotein(a) quantitative trait locus skos:exactMatch UMLS:C5394134 semapv:UnspecifiedMatching OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:exactMatch UMLS:C5394135 semapv:UnspecifiedMatching OMIM:618809 PIGBOS1 skos:exactMatch UMLS:C3890491 semapv:UnspecifiedMatching -OMIM:618809 PIGBOS1 skos:exactMatch hgnc:PIGBOS1 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:50696 semapv:UnspecifiedMatching +OMIM:618809 PIGBOS1 skos:exactMatch hgnc.symbol:PIGBOS1 semapv:UnspecifiedMatching OMIM:618809 PIGBOS1 skos:exactMatch ncbigene:101928527 semapv:UnspecifiedMatching OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch UMLS:C5394137 semapv:UnspecifiedMatching OMIM:618811 mitochondrial DNA depletion syndrome 18 skos:exactMatch UMLS:C5394140 semapv:UnspecifiedMatching OMIM:618812 UQCC6 skos:exactMatch UMLS:C2681280 semapv:UnspecifiedMatching -OMIM:618812 UQCC6 skos:exactMatch hgnc:UQCC6 semapv:UnspecifiedMatching +OMIM:618812 UQCC6 skos:exactMatch hgnc.symbol:UQCC6 semapv:UnspecifiedMatching OMIM:618812 UQCC6 skos:exactMatch ncbigene:728568 semapv:UnspecifiedMatching OMIM:618813 TTLL7 skos:exactMatch UMLS:C1823542 semapv:UnspecifiedMatching -OMIM:618813 TTLL7 skos:exactMatch hgnc:TTLL7 semapv:UnspecifiedMatching +OMIM:618813 TTLL7 skos:exactMatch hgnc.symbol:26242 semapv:UnspecifiedMatching +OMIM:618813 TTLL7 skos:exactMatch hgnc.symbol:TTLL7 semapv:UnspecifiedMatching OMIM:618813 TTLL7 skos:exactMatch ncbigene:79739 semapv:UnspecifiedMatching OMIM:618814 KLRF2 skos:exactMatch UMLS:C3147703 semapv:UnspecifiedMatching -OMIM:618814 KLRF2 skos:exactMatch hgnc:KLRF2 semapv:UnspecifiedMatching +OMIM:618814 KLRF2 skos:exactMatch hgnc.symbol:37646 semapv:UnspecifiedMatching +OMIM:618814 KLRF2 skos:exactMatch hgnc.symbol:KLRF2 semapv:UnspecifiedMatching OMIM:618814 KLRF2 skos:exactMatch ncbigene:100431172 semapv:UnspecifiedMatching OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch UMLS:C5394150 semapv:UnspecifiedMatching OMIM:618816 CDYL2 skos:exactMatch UMLS:C1427863 semapv:UnspecifiedMatching -OMIM:618816 CDYL2 skos:exactMatch hgnc:CDYL2 semapv:UnspecifiedMatching +OMIM:618816 CDYL2 skos:exactMatch hgnc.symbol:23030 semapv:UnspecifiedMatching +OMIM:618816 CDYL2 skos:exactMatch hgnc.symbol:CDYL2 semapv:UnspecifiedMatching OMIM:618816 CDYL2 skos:exactMatch ncbigene:124359 semapv:UnspecifiedMatching OMIM:618817 TMEM11 skos:exactMatch UMLS:C1823304 semapv:UnspecifiedMatching -OMIM:618817 TMEM11 skos:exactMatch hgnc:TMEM11 semapv:UnspecifiedMatching +OMIM:618817 TMEM11 skos:exactMatch hgnc.symbol:16823 semapv:UnspecifiedMatching +OMIM:618817 TMEM11 skos:exactMatch hgnc.symbol:TMEM11 semapv:UnspecifiedMatching OMIM:618817 TMEM11 skos:exactMatch ncbigene:8834 semapv:UnspecifiedMatching OMIM:618818 HCFC1R1 skos:exactMatch UMLS:C1427406 semapv:UnspecifiedMatching -OMIM:618818 HCFC1R1 skos:exactMatch hgnc:HCFC1R1 semapv:UnspecifiedMatching +OMIM:618818 HCFC1R1 skos:exactMatch hgnc.symbol:21198 semapv:UnspecifiedMatching +OMIM:618818 HCFC1R1 skos:exactMatch hgnc.symbol:HCFC1R1 semapv:UnspecifiedMatching OMIM:618818 HCFC1R1 skos:exactMatch ncbigene:54985 semapv:UnspecifiedMatching OMIM:618819 PBXIP1 skos:exactMatch UMLS:C1427407 semapv:UnspecifiedMatching -OMIM:618819 PBXIP1 skos:exactMatch hgnc:PBXIP1 semapv:UnspecifiedMatching +OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:21199 semapv:UnspecifiedMatching +OMIM:618819 PBXIP1 skos:exactMatch hgnc.symbol:PBXIP1 semapv:UnspecifiedMatching OMIM:618819 PBXIP1 skos:exactMatch ncbigene:57326 semapv:UnspecifiedMatching OMIM:618820 genitourinary and/or brain malformation syndrome skos:exactMatch UMLS:C5394158 semapv:UnspecifiedMatching OMIM:618821 rhizomelic limb shortening with dysmorphic features skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching OMIM:618822 congenital myopathy 9a skos:exactMatch UMLS:C5394189 semapv:UnspecifiedMatching OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions skos:exactMatch UMLS:C5394193 semapv:UnspecifiedMatching +OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch Orphanet:1980 semapv:UnspecifiedMatching OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch UMLS:C5394199 semapv:UnspecifiedMatching -OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:exactMatch orphanet.ordo:1980 semapv:UnspecifiedMatching OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:exactMatch UMLS:C5394205 semapv:UnspecifiedMatching +OMIM:618826 retinitis pigmentosa 88 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618826 retinitis pigmentosa 88 skos:exactMatch UMLS:C5394208 semapv:UnspecifiedMatching -OMIM:618826 retinitis pigmentosa 88 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching OMIM:618827 myopia 27, autosomal dominant skos:exactMatch UMLS:C5394215 semapv:UnspecifiedMatching OMIM:618828 nabais sa-de vries syndrome, iia 1 skos:exactMatch UMLS:C5394218 semapv:UnspecifiedMatching OMIM:618829 nabais sa-de vries syndrome, iia 2 skos:exactMatch UMLS:C5394221 semapv:UnspecifiedMatching OMIM:618830 autism, susceptibility to, 20 skos:exactMatch UMLS:C5394226 semapv:UnspecifiedMatching OMIM:618831 TMEM37 skos:exactMatch UMLS:C1540007 semapv:UnspecifiedMatching -OMIM:618831 TMEM37 skos:exactMatch hgnc:TMEM37 semapv:UnspecifiedMatching +OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:18216 semapv:UnspecifiedMatching +OMIM:618831 TMEM37 skos:exactMatch hgnc.symbol:TMEM37 semapv:UnspecifiedMatching OMIM:618831 TMEM37 skos:exactMatch ncbigene:140738 semapv:UnspecifiedMatching OMIM:618832 epilepsy, early-onset, 2, with or without developmental delay skos:exactMatch UMLS:C5394228 semapv:UnspecifiedMatching OMIM:618833 RALGAPB skos:exactMatch UMLS:C1825680 semapv:UnspecifiedMatching -OMIM:618833 RALGAPB skos:exactMatch hgnc:RALGAPB semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:29221 semapv:UnspecifiedMatching +OMIM:618833 RALGAPB skos:exactMatch hgnc.symbol:RALGAPB semapv:UnspecifiedMatching OMIM:618833 RALGAPB skos:exactMatch ncbigene:57148 semapv:UnspecifiedMatching OMIM:618834 LAMTOR4 skos:exactMatch UMLS:C3541686 semapv:UnspecifiedMatching -OMIM:618834 LAMTOR4 skos:exactMatch hgnc:LAMTOR4 semapv:UnspecifiedMatching +OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:33772 semapv:UnspecifiedMatching +OMIM:618834 LAMTOR4 skos:exactMatch hgnc.symbol:LAMTOR4 semapv:UnspecifiedMatching OMIM:618834 LAMTOR4 skos:exactMatch ncbigene:389541 semapv:UnspecifiedMatching +OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch Orphanet:570491 semapv:UnspecifiedMatching OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch UMLS:C5394232 semapv:UnspecifiedMatching -OMIM:618835 combined oxidative phosphorylation deficiency 40 skos:exactMatch orphanet.ordo:570491 semapv:UnspecifiedMatching OMIM:618836 RALGAPA2 skos:exactMatch UMLS:C1424084 semapv:UnspecifiedMatching -OMIM:618836 RALGAPA2 skos:exactMatch hgnc:RALGAPA2 semapv:UnspecifiedMatching +OMIM:618836 RALGAPA2 skos:exactMatch hgnc.symbol:16207 semapv:UnspecifiedMatching +OMIM:618836 RALGAPA2 skos:exactMatch hgnc.symbol:RALGAPA2 semapv:UnspecifiedMatching OMIM:618836 RALGAPA2 skos:exactMatch ncbigene:57186 semapv:UnspecifiedMatching OMIM:618837 LAPTM4A skos:exactMatch UMLS:C1417056 semapv:UnspecifiedMatching -OMIM:618837 LAPTM4A skos:exactMatch hgnc:LAPTM4A semapv:UnspecifiedMatching +OMIM:618837 LAPTM4A skos:exactMatch hgnc.symbol:6924 semapv:UnspecifiedMatching +OMIM:618837 LAPTM4A skos:exactMatch hgnc.symbol:LAPTM4A semapv:UnspecifiedMatching OMIM:618837 LAPTM4A skos:exactMatch ncbigene:9741 semapv:UnspecifiedMatching OMIM:618838 combined oxidative phosphorylation deficiency 41 skos:exactMatch UMLS:C5394236 semapv:UnspecifiedMatching OMIM:618839 combined oxidative phosphorylation deficiency 42 skos:exactMatch UMLS:C5394237 semapv:UnspecifiedMatching +OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch Orphanet:2850 semapv:UnspecifiedMatching OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch UMLS:C5394241 semapv:UnspecifiedMatching -OMIM:618840 alopecia-intellectual disability syndrome 4 skos:exactMatch orphanet.ordo:2850 semapv:UnspecifiedMatching +OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch Orphanet:478 semapv:UnspecifiedMatching OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch UMLS:C5394246 semapv:UnspecifiedMatching -OMIM:618841 hypogonadotropic hypogonadism 25 with anosmia skos:exactMatch orphanet.ordo:478 semapv:UnspecifiedMatching OMIM:618842 HORMAD2 skos:exactMatch UMLS:C1539675 semapv:UnspecifiedMatching -OMIM:618842 HORMAD2 skos:exactMatch hgnc:HORMAD2 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:28383 semapv:UnspecifiedMatching +OMIM:618842 HORMAD2 skos:exactMatch hgnc.symbol:HORMAD2 semapv:UnspecifiedMatching OMIM:618842 HORMAD2 skos:exactMatch ncbigene:150280 semapv:UnspecifiedMatching OMIM:618843 LAYN skos:exactMatch UMLS:C1825794 semapv:UnspecifiedMatching -OMIM:618843 LAYN skos:exactMatch hgnc:LAYN semapv:UnspecifiedMatching +OMIM:618843 LAYN skos:exactMatch hgnc.symbol:29471 semapv:UnspecifiedMatching +OMIM:618843 LAYN skos:exactMatch hgnc.symbol:LAYN semapv:UnspecifiedMatching OMIM:618843 LAYN skos:exactMatch ncbigene:143903 semapv:UnspecifiedMatching OMIM:618844 L3MBTL3 skos:exactMatch UMLS:C1427866 semapv:UnspecifiedMatching -OMIM:618844 L3MBTL3 skos:exactMatch hgnc:L3MBTL3 semapv:UnspecifiedMatching +OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:23035 semapv:UnspecifiedMatching +OMIM:618844 L3MBTL3 skos:exactMatch hgnc.symbol:L3MBTL3 semapv:UnspecifiedMatching OMIM:618844 L3MBTL3 skos:exactMatch ncbigene:84456 semapv:UnspecifiedMatching +OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch Orphanet:521438 semapv:UnspecifiedMatching OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch UMLS:C5394250 semapv:UnspecifiedMatching -OMIM:618845 vertebral, cardiac, renal, and limb defects syndrome 3 skos:exactMatch orphanet.ordo:521438 semapv:UnspecifiedMatching OMIM:618846 diets-jongmans syndrome skos:exactMatch UMLS:C5394263 semapv:UnspecifiedMatching OMIM:618847 immunodeficiency 66 skos:exactMatch UMLS:C5394265 semapv:UnspecifiedMatching OMIM:618848 muscular dystrophy, limb-girdle, autosomal recessive 26 skos:exactMatch UMLS:C5394268 semapv:UnspecifiedMatching @@ -40793,2028 +56963,3036 @@ OMIM:618849 bone marrow failure syndrome 6 skos:exactMatch UMLS:C5394274 semapv: OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch UMLS:C5394277 semapv:UnspecifiedMatching OMIM:618851 combined oxidative phosphorylation deficiency 43 skos:exactMatch UMLS:C5394284 semapv:UnspecifiedMatching OMIM:618852 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch UMLS:C5394286 semapv:UnspecifiedMatching +OMIM:618853 anauxetic dysplasia 3 skos:exactMatch Orphanet:93347 semapv:UnspecifiedMatching OMIM:618853 anauxetic dysplasia 3 skos:exactMatch UMLS:C5394289 semapv:UnspecifiedMatching -OMIM:618853 anauxetic dysplasia 3 skos:exactMatch orphanet.ordo:93347 semapv:UnspecifiedMatching OMIM:618854 SPCS3 skos:exactMatch UMLS:C1539819 semapv:UnspecifiedMatching -OMIM:618854 SPCS3 skos:exactMatch hgnc:SPCS3 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:26212 semapv:UnspecifiedMatching +OMIM:618854 SPCS3 skos:exactMatch hgnc.symbol:SPCS3 semapv:UnspecifiedMatching OMIM:618854 SPCS3 skos:exactMatch ncbigene:60559 semapv:UnspecifiedMatching +OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch Orphanet:166105 semapv:UnspecifiedMatching OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch UMLS:C5394293 semapv:UnspecifiedMatching -OMIM:618855 combined oxidative phosphorylation deficiency 44 skos:exactMatch orphanet.ordo:166105 semapv:UnspecifiedMatching +OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch UMLS:C5394296 semapv:UnspecifiedMatching OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch UMLS:C5394597 semapv:UnspecifiedMatching -OMIM:618856 diabetes mellitus, permanent neonatal, 2 skos:exactMatch orphanet.ordo:99885 semapv:UnspecifiedMatching +OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch UMLS:C5394303 semapv:UnspecifiedMatching OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch UMLS:C5394304 semapv:UnspecifiedMatching -OMIM:618857 diabetes mellitus, permanent neonatal, 3 skos:exactMatch orphanet.ordo:99885 semapv:UnspecifiedMatching +OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch Orphanet:99885 semapv:UnspecifiedMatching OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch UMLS:C5394307 semapv:UnspecifiedMatching -OMIM:618858 diabetes mellitus, permanent neonatal, 4 skos:exactMatch orphanet.ordo:99885 semapv:UnspecifiedMatching OMIM:618859 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities skos:exactMatch UMLS:C5394311 semapv:UnspecifiedMatching OMIM:618860 C1ORF87 skos:exactMatch UMLS:C1823707 semapv:UnspecifiedMatching -OMIM:618860 C1ORF87 skos:exactMatch hgnc:C1orf87 semapv:UnspecifiedMatching +OMIM:618860 C1ORF87 skos:exactMatch hgnc.symbol:28547 semapv:UnspecifiedMatching +OMIM:618860 C1ORF87 skos:exactMatch hgnc.symbol:C1orf87 semapv:UnspecifiedMatching OMIM:618860 C1ORF87 skos:exactMatch ncbigene:127795 semapv:UnspecifiedMatching OMIM:618861 IGLON5 skos:exactMatch UMLS:C2681611 semapv:UnspecifiedMatching -OMIM:618861 IGLON5 skos:exactMatch hgnc:IGLON5 semapv:UnspecifiedMatching +OMIM:618861 IGLON5 skos:exactMatch hgnc.symbol:34550 semapv:UnspecifiedMatching +OMIM:618861 IGLON5 skos:exactMatch hgnc.symbol:IGLON5 semapv:UnspecifiedMatching OMIM:618861 IGLON5 skos:exactMatch ncbigene:402665 semapv:UnspecifiedMatching OMIM:618862 neurodevelopmental disorder with hypotonia, microcephaly, and seizures skos:exactMatch UMLS:C5394312 semapv:UnspecifiedMatching OMIM:618863 retinal dystrophy with leukodystrophy skos:exactMatch UMLS:C5394315 semapv:UnspecifiedMatching OMIM:618864 C19ORF48P skos:exactMatch UMLS:C1824489 semapv:UnspecifiedMatching -OMIM:618864 C19ORF48P skos:exactMatch hgnc:C19orf48P semapv:UnspecifiedMatching +OMIM:618864 C19ORF48P skos:exactMatch hgnc.symbol:C19orf48P semapv:UnspecifiedMatching OMIM:618864 C19ORF48P skos:exactMatch ncbigene:84798 semapv:UnspecifiedMatching OMIM:618865 CEP85L skos:exactMatch UMLS:C3469888 semapv:UnspecifiedMatching OMIM:618865 CEP85L skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching -OMIM:618865 CEP85L skos:exactMatch hgnc:CEP85L semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:21638 semapv:UnspecifiedMatching +OMIM:618865 CEP85L skos:exactMatch hgnc.symbol:CEP85L semapv:UnspecifiedMatching OMIM:618865 CEP85L skos:exactMatch ncbigene:387119 semapv:UnspecifiedMatching OMIM:618866 tremor, hereditary essential, 6 skos:exactMatch UMLS:C5394329 semapv:UnspecifiedMatching OMIM:618867 RHOF skos:exactMatch UMLS:C1423669 semapv:UnspecifiedMatching -OMIM:618867 RHOF skos:exactMatch hgnc:RHOF semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch hgnc.symbol:15703 semapv:UnspecifiedMatching +OMIM:618867 RHOF skos:exactMatch hgnc.symbol:RHOF semapv:UnspecifiedMatching OMIM:618867 RHOF skos:exactMatch ncbigene:54509 semapv:UnspecifiedMatching OMIM:618868 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline skos:exactMatch UMLS:C5394335 semapv:UnspecifiedMatching OMIM:618869 RNF144B skos:exactMatch UMLS:C1427625 semapv:UnspecifiedMatching -OMIM:618869 RNF144B skos:exactMatch hgnc:RNF144B semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:21578 semapv:UnspecifiedMatching +OMIM:618869 RNF144B skos:exactMatch hgnc.symbol:RNF144B semapv:UnspecifiedMatching OMIM:618869 RNF144B skos:exactMatch ncbigene:255488 semapv:UnspecifiedMatching OMIM:618870 skeletal dysplasia, mild, with joint laxity and advanced bone age skos:exactMatch UMLS:C5394341 semapv:UnspecifiedMatching OMIM:618871 ARHGEF16 skos:exactMatch UMLS:C1423545 semapv:UnspecifiedMatching -OMIM:618871 ARHGEF16 skos:exactMatch hgnc:ARHGEF16 semapv:UnspecifiedMatching +OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:15515 semapv:UnspecifiedMatching +OMIM:618871 ARHGEF16 skos:exactMatch hgnc.symbol:ARHGEF16 semapv:UnspecifiedMatching OMIM:618871 ARHGEF16 skos:exactMatch ncbigene:27237 semapv:UnspecifiedMatching OMIM:618872 nizon-isidor syndrome skos:exactMatch UMLS:C5394350 semapv:UnspecifiedMatching OMIM:618873 lissencephaly 10 skos:exactMatch UMLS:C5394354 semapv:UnspecifiedMatching +OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch Orphanet:139474 semapv:UnspecifiedMatching OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch UMLS:C3495679 semapv:UnspecifiedMatching -OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb skos:exactMatch orphanet.ordo:139474 semapv:UnspecifiedMatching OMIM:618875 seizures, early-onset, with neurodegeneration and brain calcifications skos:exactMatch UMLS:C5394359 semapv:UnspecifiedMatching OMIM:618876 epilepsy, progressive myoclonic, 11 skos:exactMatch UMLS:C5394362 semapv:UnspecifiedMatching OMIM:618877 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome skos:exactMatch UMLS:C5394367 semapv:UnspecifiedMatching OMIM:618878 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome skos:exactMatch UMLS:C5394371 semapv:UnspecifiedMatching OMIM:618879 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures skos:exactMatch UMLS:C5394372 semapv:UnspecifiedMatching OMIM:618880 glaucoma, primary closed-angle skos:exactMatch UMLS:C5394374 semapv:UnspecifiedMatching +OMIM:618881 galactosemia 4 skos:exactMatch Orphanet:570422 semapv:UnspecifiedMatching OMIM:618881 galactosemia 4 skos:exactMatch UMLS:C5394377 semapv:UnspecifiedMatching -OMIM:618881 galactosemia 4 skos:exactMatch orphanet.ordo:570422 semapv:UnspecifiedMatching +OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch Orphanet:35858 semapv:UnspecifiedMatching OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch UMLS:C4016948 semapv:UnspecifiedMatching -OMIM:618882 imerslund-grasbeck syndrome 2 skos:exactMatch orphanet.ordo:35858 semapv:UnspecifiedMatching +OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch Orphanet:99879 semapv:UnspecifiedMatching OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch UMLS:C5394383 semapv:UnspecifiedMatching -OMIM:618883 hypoparathyroidism, familial isolated, 2 skos:exactMatch orphanet.ordo:99879 semapv:UnspecifiedMatching OMIM:618884 proteinuria, chronic benign skos:exactMatch UMLS:C5394384 semapv:UnspecifiedMatching OMIM:618885 congenital disorder of glycosylation, iia iit skos:exactMatch UMLS:C5394387 semapv:UnspecifiedMatching OMIM:618886 pseudo-torch syndrome 3 skos:exactMatch UMLS:C5394391 semapv:UnspecifiedMatching OMIM:618887 NFKBID skos:exactMatch UMLS:C2681901 semapv:UnspecifiedMatching -OMIM:618887 NFKBID skos:exactMatch hgnc:NFKBID semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:15671 semapv:UnspecifiedMatching +OMIM:618887 NFKBID skos:exactMatch hgnc.symbol:NFKBID semapv:UnspecifiedMatching OMIM:618887 NFKBID skos:exactMatch ncbigene:84807 semapv:UnspecifiedMatching OMIM:618888 CASS4 skos:exactMatch UMLS:C1423799 semapv:UnspecifiedMatching -OMIM:618888 CASS4 skos:exactMatch hgnc:CASS4 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:15878 semapv:UnspecifiedMatching +OMIM:618888 CASS4 skos:exactMatch hgnc.symbol:CASS4 semapv:UnspecifiedMatching OMIM:618888 CASS4 skos:exactMatch ncbigene:57091 semapv:UnspecifiedMatching OMIM:618889 liberfarb syndrome skos:exactMatch UMLS:C5394404 semapv:UnspecifiedMatching OMIM:618890 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity skos:exactMatch UMLS:C5394423 semapv:UnspecifiedMatching OMIM:618891 microcephaly, developmental delay, and brittle hair syndrome skos:exactMatch UMLS:C5394425 semapv:UnspecifiedMatching OMIM:618892 harderoporphyria skos:exactMatch UMLS:C0342859 semapv:UnspecifiedMatching OMIM:618893 NOL4L skos:exactMatch UMLS:C1423987 semapv:UnspecifiedMatching -OMIM:618893 NOL4L skos:exactMatch hgnc:NOL4L semapv:UnspecifiedMatching +OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:16106 semapv:UnspecifiedMatching +OMIM:618893 NOL4L skos:exactMatch hgnc.symbol:NOL4L semapv:UnspecifiedMatching OMIM:618893 NOL4L skos:exactMatch ncbigene:140688 semapv:UnspecifiedMatching OMIM:618894 ROMO1 skos:exactMatch UMLS:C1424062 semapv:UnspecifiedMatching -OMIM:618894 ROMO1 skos:exactMatch hgnc:ROMO1 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:16185 semapv:UnspecifiedMatching +OMIM:618894 ROMO1 skos:exactMatch hgnc.symbol:ROMO1 semapv:UnspecifiedMatching OMIM:618894 ROMO1 skos:exactMatch ncbigene:140823 semapv:UnspecifiedMatching OMIM:618895 IZUMO2 skos:exactMatch UMLS:C1824482 semapv:UnspecifiedMatching -OMIM:618895 IZUMO2 skos:exactMatch hgnc:IZUMO2 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:28518 semapv:UnspecifiedMatching +OMIM:618895 IZUMO2 skos:exactMatch hgnc.symbol:IZUMO2 semapv:UnspecifiedMatching OMIM:618895 IZUMO2 skos:exactMatch ncbigene:126123 semapv:UnspecifiedMatching OMIM:618896 IZUMO3 skos:exactMatch UMLS:C1538360 semapv:UnspecifiedMatching -OMIM:618896 IZUMO3 skos:exactMatch hgnc:IZUMO3 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:31421 semapv:UnspecifiedMatching +OMIM:618896 IZUMO3 skos:exactMatch hgnc.symbol:IZUMO3 semapv:UnspecifiedMatching OMIM:618896 IZUMO3 skos:exactMatch ncbigene:100129669 semapv:UnspecifiedMatching OMIM:618897 IZUMO4 skos:exactMatch UMLS:C3147678 semapv:UnspecifiedMatching -OMIM:618897 IZUMO4 skos:exactMatch hgnc:IZUMO4 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:26950 semapv:UnspecifiedMatching +OMIM:618897 IZUMO4 skos:exactMatch hgnc.symbol:IZUMO4 semapv:UnspecifiedMatching OMIM:618897 IZUMO4 skos:exactMatch ncbigene:113177 semapv:UnspecifiedMatching OMIM:618898 CEP85 skos:exactMatch UMLS:C1824546 semapv:UnspecifiedMatching -OMIM:618898 CEP85 skos:exactMatch hgnc:CEP85 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:25309 semapv:UnspecifiedMatching +OMIM:618898 CEP85 skos:exactMatch hgnc.symbol:CEP85 semapv:UnspecifiedMatching OMIM:618898 CEP85 skos:exactMatch ncbigene:64793 semapv:UnspecifiedMatching OMIM:618899 MAN2B2 skos:exactMatch UMLS:C1428881 semapv:UnspecifiedMatching OMIM:618899 MAN2B2 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching -OMIM:618899 MAN2B2 skos:exactMatch hgnc:MAN2B2 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:29623 semapv:UnspecifiedMatching +OMIM:618899 MAN2B2 skos:exactMatch hgnc.symbol:MAN2B2 semapv:UnspecifiedMatching OMIM:618899 MAN2B2 skos:exactMatch ncbigene:23324 semapv:UnspecifiedMatching OMIM:618900 ZCWPW1 skos:exactMatch UMLS:C1428099 semapv:UnspecifiedMatching -OMIM:618900 ZCWPW1 skos:exactMatch hgnc:ZCWPW1 semapv:UnspecifiedMatching +OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:23486 semapv:UnspecifiedMatching +OMIM:618900 ZCWPW1 skos:exactMatch hgnc.symbol:ZCWPW1 semapv:UnspecifiedMatching OMIM:618900 ZCWPW1 skos:exactMatch ncbigene:55063 semapv:UnspecifiedMatching OMIM:618901 46,xx sex reversal 5 skos:exactMatch UMLS:C5394441 semapv:UnspecifiedMatching OMIM:618902 METTL2A skos:exactMatch UMLS:C1825974 semapv:UnspecifiedMatching -OMIM:618902 METTL2A skos:exactMatch hgnc:METTL2A semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:25755 semapv:UnspecifiedMatching +OMIM:618902 METTL2A skos:exactMatch hgnc.symbol:METTL2A semapv:UnspecifiedMatching OMIM:618902 METTL2A skos:exactMatch ncbigene:339175 semapv:UnspecifiedMatching OMIM:618903 METTL6 skos:exactMatch UMLS:C1825975 semapv:UnspecifiedMatching -OMIM:618903 METTL6 skos:exactMatch hgnc:METTL6 semapv:UnspecifiedMatching +OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:28343 semapv:UnspecifiedMatching +OMIM:618903 METTL6 skos:exactMatch hgnc.symbol:METTL6 semapv:UnspecifiedMatching OMIM:618903 METTL6 skos:exactMatch ncbigene:131965 semapv:UnspecifiedMatching OMIM:618904 DALRD3 skos:exactMatch UMLS:C1539217 semapv:UnspecifiedMatching OMIM:618904 DALRD3 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching -OMIM:618904 DALRD3 skos:exactMatch hgnc:DALRD3 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:25536 semapv:UnspecifiedMatching +OMIM:618904 DALRD3 skos:exactMatch hgnc.symbol:DALRD3 semapv:UnspecifiedMatching OMIM:618904 DALRD3 skos:exactMatch ncbigene:55152 semapv:UnspecifiedMatching OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5394446 semapv:UnspecifiedMatching OMIM:618905 silver-russell syndrome 2 skos:exactMatch UMLS:C5400127 semapv:UnspecifiedMatching +OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch UMLS:C5394447 semapv:UnspecifiedMatching -OMIM:618906 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching +OMIM:618907 silver-russell syndrome 4 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching OMIM:618907 silver-russell syndrome 4 skos:exactMatch UMLS:C5394450 semapv:UnspecifiedMatching -OMIM:618907 silver-russell syndrome 4 skos:exactMatch orphanet.ordo:397590 semapv:UnspecifiedMatching +OMIM:618908 silver-russell syndrome 5 skos:exactMatch Orphanet:397590 semapv:UnspecifiedMatching OMIM:618908 silver-russell syndrome 5 skos:exactMatch UMLS:C5394456 semapv:UnspecifiedMatching -OMIM:618908 silver-russell syndrome 5 skos:exactMatch orphanet.ordo:397590 semapv:UnspecifiedMatching OMIM:618909 ILKAP skos:exactMatch UMLS:C1423578 semapv:UnspecifiedMatching -OMIM:618909 ILKAP skos:exactMatch hgnc:ILKAP semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:15566 semapv:UnspecifiedMatching +OMIM:618909 ILKAP skos:exactMatch hgnc.symbol:ILKAP semapv:UnspecifiedMatching OMIM:618909 ILKAP skos:exactMatch ncbigene:80895 semapv:UnspecifiedMatching +OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch UMLS:C5394462 semapv:UnspecifiedMatching -OMIM:618910 developmental and epileptic encephalopathy 86 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching OMIM:618911 C16ORF92 skos:exactMatch UMLS:C2681297 semapv:UnspecifiedMatching -OMIM:618911 C16ORF92 skos:exactMatch hgnc:C16orf92 semapv:UnspecifiedMatching +OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:26346 semapv:UnspecifiedMatching +OMIM:618911 C16ORF92 skos:exactMatch hgnc.symbol:C16orf92 semapv:UnspecifiedMatching OMIM:618911 C16ORF92 skos:exactMatch ncbigene:146378 semapv:UnspecifiedMatching OMIM:618912 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch UMLS:C5394466 semapv:UnspecifiedMatching +OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch Orphanet:3337 semapv:UnspecifiedMatching OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch UMLS:C5394473 semapv:UnspecifiedMatching -OMIM:618913 fanconi renotubular syndrome 5 skos:exactMatch orphanet.ordo:3337 semapv:UnspecifiedMatching +OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch UMLS:C5394477 semapv:UnspecifiedMatching -OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching +OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch UMLS:C5394499 semapv:UnspecifiedMatching -OMIM:618915 deafness, autosomal dominant 77 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching +OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch UMLS:C5394501 semapv:UnspecifiedMatching -OMIM:618916 developmental and epileptic encephalopathy 87 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities skos:exactMatch UMLS:C5394502 semapv:UnspecifiedMatching +OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch Orphanet:98892 semapv:UnspecifiedMatching OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching -OMIM:618918 periventricular nodular heterotopia 9 skos:exactMatch orphanet.ordo:98892 semapv:UnspecifiedMatching OMIM:618919 KLHL42 skos:exactMatch UMLS:C1537491 semapv:UnspecifiedMatching -OMIM:618919 KLHL42 skos:exactMatch hgnc:KLHL42 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:29252 semapv:UnspecifiedMatching +OMIM:618919 KLHL42 skos:exactMatch hgnc.symbol:KLHL42 semapv:UnspecifiedMatching OMIM:618919 KLHL42 skos:exactMatch ncbigene:57542 semapv:UnspecifiedMatching +OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch Orphanet:293910 semapv:UnspecifiedMatching OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch UMLS:C5394505 semapv:UnspecifiedMatching -OMIM:618920 arrhythmogenic right ventricular dysplasia, familial, 14 skos:exactMatch orphanet.ordo:293910 semapv:UnspecifiedMatching OMIM:618921 LACTB2 skos:exactMatch UMLS:C1425568 semapv:UnspecifiedMatching -OMIM:618921 LACTB2 skos:exactMatch hgnc:LACTB2 semapv:UnspecifiedMatching +OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:18512 semapv:UnspecifiedMatching +OMIM:618921 LACTB2 skos:exactMatch hgnc.symbol:LACTB2 semapv:UnspecifiedMatching OMIM:618921 LACTB2 skos:exactMatch ncbigene:51110 semapv:UnspecifiedMatching OMIM:618922 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:exactMatch UMLS:C5394517 semapv:UnspecifiedMatching OMIM:618923 FABP12 skos:exactMatch UMLS:C2681462 semapv:UnspecifiedMatching -OMIM:618923 FABP12 skos:exactMatch hgnc:FABP12 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:34524 semapv:UnspecifiedMatching +OMIM:618923 FABP12 skos:exactMatch hgnc.symbol:FABP12 semapv:UnspecifiedMatching OMIM:618923 FABP12 skos:exactMatch ncbigene:646486 semapv:UnspecifiedMatching OMIM:618924 episodic ataxia, iia 9 skos:exactMatch UMLS:C5394520 semapv:UnspecifiedMatching OMIM:618925 GPR171 skos:exactMatch UMLS:C1539606 semapv:UnspecifiedMatching -OMIM:618925 GPR171 skos:exactMatch hgnc:GPR171 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:30057 semapv:UnspecifiedMatching +OMIM:618925 GPR171 skos:exactMatch hgnc.symbol:GPR171 semapv:UnspecifiedMatching OMIM:618925 GPR171 skos:exactMatch ncbigene:29909 semapv:UnspecifiedMatching OMIM:618926 OMD skos:exactMatch UMLS:C1417948 semapv:UnspecifiedMatching -OMIM:618926 OMD skos:exactMatch hgnc:OMD semapv:UnspecifiedMatching +OMIM:618926 OMD skos:exactMatch hgnc.symbol:8134 semapv:UnspecifiedMatching +OMIM:618926 OMD skos:exactMatch hgnc.symbol:OMD semapv:UnspecifiedMatching OMIM:618926 OMD skos:exactMatch ncbigene:4958 semapv:UnspecifiedMatching OMIM:618927 KRTAP24-1 skos:exactMatch UMLS:C2239642 semapv:UnspecifiedMatching -OMIM:618927 KRTAP24-1 skos:exactMatch hgnc:KRTAP24-1 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:33902 semapv:UnspecifiedMatching +OMIM:618927 KRTAP24-1 skos:exactMatch hgnc.symbol:KRTAP24-1 semapv:UnspecifiedMatching OMIM:618927 KRTAP24-1 skos:exactMatch ncbigene:643803 semapv:UnspecifiedMatching OMIM:618928 LDHAL6A skos:exactMatch UMLS:C1537556 semapv:UnspecifiedMatching -OMIM:618928 LDHAL6A skos:exactMatch hgnc:LDHAL6A semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:28335 semapv:UnspecifiedMatching +OMIM:618928 LDHAL6A skos:exactMatch hgnc.symbol:LDHAL6A semapv:UnspecifiedMatching OMIM:618928 LDHAL6A skos:exactMatch ncbigene:160287 semapv:UnspecifiedMatching OMIM:618929 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch UMLS:C5394523 semapv:UnspecifiedMatching OMIM:618930 ANKRD18B skos:exactMatch UMLS:C1538281 semapv:UnspecifiedMatching -OMIM:618930 ANKRD18B skos:exactMatch hgnc:ANKRD18B semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:23644 semapv:UnspecifiedMatching +OMIM:618930 ANKRD18B skos:exactMatch hgnc.symbol:ANKRD18B semapv:UnspecifiedMatching OMIM:618930 ANKRD18B skos:exactMatch ncbigene:441459 semapv:UnspecifiedMatching OMIM:618931 ZNFX1 skos:exactMatch UMLS:C1824076 semapv:UnspecifiedMatching -OMIM:618931 ZNFX1 skos:exactMatch hgnc:ZNFX1 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:29271 semapv:UnspecifiedMatching +OMIM:618931 ZNFX1 skos:exactMatch hgnc.symbol:ZNFX1 semapv:UnspecifiedMatching OMIM:618931 ZNFX1 skos:exactMatch ncbigene:57169 semapv:UnspecifiedMatching OMIM:618932 OST4 skos:exactMatch UMLS:C2829972 semapv:UnspecifiedMatching -OMIM:618932 OST4 skos:exactMatch hgnc:OST4 semapv:UnspecifiedMatching +OMIM:618932 OST4 skos:exactMatch hgnc.symbol:32483 semapv:UnspecifiedMatching +OMIM:618932 OST4 skos:exactMatch hgnc.symbol:OST4 semapv:UnspecifiedMatching OMIM:618932 OST4 skos:exactMatch ncbigene:100128731 semapv:UnspecifiedMatching OMIM:618933 SH3RF3 skos:exactMatch UMLS:C1428402 semapv:UnspecifiedMatching -OMIM:618933 SH3RF3 skos:exactMatch hgnc:SH3RF3 semapv:UnspecifiedMatching +OMIM:618933 SH3RF3 skos:exactMatch hgnc.symbol:24699 semapv:UnspecifiedMatching +OMIM:618933 SH3RF3 skos:exactMatch hgnc.symbol:SH3RF3 semapv:UnspecifiedMatching OMIM:618933 SH3RF3 skos:exactMatch ncbigene:344558 semapv:UnspecifiedMatching OMIM:618934 CCSER1 skos:exactMatch UMLS:C2829370 semapv:UnspecifiedMatching -OMIM:618934 CCSER1 skos:exactMatch hgnc:CCSER1 semapv:UnspecifiedMatching +OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:29349 semapv:UnspecifiedMatching +OMIM:618934 CCSER1 skos:exactMatch hgnc.symbol:CCSER1 semapv:UnspecifiedMatching OMIM:618934 CCSER1 skos:exactMatch ncbigene:401145 semapv:UnspecifiedMatching +OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch Orphanet:379 semapv:UnspecifiedMatching OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch UMLS:C5394542 semapv:UnspecifiedMatching -OMIM:618935 granulomatous disease, chronic, autosomal recessive, 5 skos:exactMatch orphanet.ordo:379 semapv:UnspecifiedMatching OMIM:618936 SPATA25 skos:exactMatch UMLS:C3469867 semapv:UnspecifiedMatching -OMIM:618936 SPATA25 skos:exactMatch hgnc:SPATA25 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:16158 semapv:UnspecifiedMatching +OMIM:618936 SPATA25 skos:exactMatch hgnc.symbol:SPATA25 semapv:UnspecifiedMatching OMIM:618936 SPATA25 skos:exactMatch ncbigene:128497 semapv:UnspecifiedMatching OMIM:618937 PPP1R35 skos:exactMatch UMLS:C3471437 semapv:UnspecifiedMatching -OMIM:618937 PPP1R35 skos:exactMatch hgnc:PPP1R35 semapv:UnspecifiedMatching +OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:28320 semapv:UnspecifiedMatching +OMIM:618937 PPP1R35 skos:exactMatch hgnc.symbol:PPP1R35 semapv:UnspecifiedMatching OMIM:618937 PPP1R35 skos:exactMatch ncbigene:221908 semapv:UnspecifiedMatching OMIM:618938 LASTR skos:exactMatch UMLS:C5240280 semapv:UnspecifiedMatching -OMIM:618938 LASTR skos:exactMatch hgnc:LASTR semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch hgnc.symbol:54143 semapv:UnspecifiedMatching +OMIM:618938 LASTR skos:exactMatch hgnc.symbol:LASTR semapv:UnspecifiedMatching OMIM:618938 LASTR skos:exactMatch ncbigene:105376382 semapv:UnspecifiedMatching +OMIM:618939 treacher collins syndrome 4 skos:exactMatch Orphanet:861 semapv:UnspecifiedMatching OMIM:618939 treacher collins syndrome 4 skos:exactMatch UMLS:C5394546 semapv:UnspecifiedMatching -OMIM:618939 treacher collins syndrome 4 skos:exactMatch orphanet.ordo:861 semapv:UnspecifiedMatching +OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch Orphanet:98897 semapv:UnspecifiedMatching OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch UMLS:C5394548 semapv:UnspecifiedMatching -OMIM:618940 oculopharyngodistal myopathy 2 skos:exactMatch orphanet.ordo:98897 semapv:UnspecifiedMatching OMIM:618941 CCDC32 skos:exactMatch UMLS:C1824556 semapv:UnspecifiedMatching OMIM:618941 CCDC32 skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching -OMIM:618941 CCDC32 skos:exactMatch hgnc:CCDC32 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:28295 semapv:UnspecifiedMatching +OMIM:618941 CCDC32 skos:exactMatch hgnc.symbol:CCDC32 semapv:UnspecifiedMatching OMIM:618941 CCDC32 skos:exactMatch ncbigene:90416 semapv:UnspecifiedMatching OMIM:618942 IQANK1 skos:exactMatch UMLS:C4320409 semapv:UnspecifiedMatching OMIM:618942 IQANK1 skos:exactMatch UMLS:C5394549 semapv:UnspecifiedMatching -OMIM:618942 IQANK1 skos:exactMatch hgnc:IQANK1 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:49576 semapv:UnspecifiedMatching +OMIM:618942 IQANK1 skos:exactMatch hgnc.symbol:IQANK1 semapv:UnspecifiedMatching OMIM:618942 IQANK1 skos:exactMatch ncbigene:642574 semapv:UnspecifiedMatching OMIM:618943 SNORD8 skos:exactMatch UMLS:C1822912 semapv:UnspecifiedMatching -OMIM:618943 SNORD8 skos:exactMatch hgnc:SNORD8 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:20159 semapv:UnspecifiedMatching +OMIM:618943 SNORD8 skos:exactMatch hgnc.symbol:SNORD8 semapv:UnspecifiedMatching OMIM:618943 SNORD8 skos:exactMatch ncbigene:319103 semapv:UnspecifiedMatching OMIM:618944 hyper-ige syndrome 5, autosomal recessive, with recurrent infections skos:exactMatch UMLS:C5394550 semapv:UnspecifiedMatching OMIM:618945 SPACA6 skos:exactMatch UMLS:C2681867 semapv:UnspecifiedMatching -OMIM:618945 SPACA6 skos:exactMatch hgnc:SPACA6 semapv:UnspecifiedMatching +OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:27113 semapv:UnspecifiedMatching +OMIM:618945 SPACA6 skos:exactMatch hgnc.symbol:SPACA6 semapv:UnspecifiedMatching OMIM:618945 SPACA6 skos:exactMatch ncbigene:147650 semapv:UnspecifiedMatching OMIM:618946 LLCFC1 skos:exactMatch UMLS:C1427740 semapv:UnspecifiedMatching -OMIM:618946 LLCFC1 skos:exactMatch hgnc:LLCFC1 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:21750 semapv:UnspecifiedMatching +OMIM:618946 LLCFC1 skos:exactMatch hgnc.symbol:LLCFC1 semapv:UnspecifiedMatching OMIM:618946 LLCFC1 skos:exactMatch ncbigene:135927 semapv:UnspecifiedMatching OMIM:618947 arthrogryposis multiplex congenita 5 skos:exactMatch UMLS:C5436453 semapv:UnspecifiedMatching OMIM:618948 heterotaxy, visceral, 9, autosomal, with male infertility skos:exactMatch UMLS:C5394551 semapv:UnspecifiedMatching OMIM:618949 RIMKLA skos:exactMatch UMLS:C1825154 semapv:UnspecifiedMatching -OMIM:618949 RIMKLA skos:exactMatch hgnc:RIMKLA semapv:UnspecifiedMatching +OMIM:618949 RIMKLA skos:exactMatch hgnc.symbol:28725 semapv:UnspecifiedMatching +OMIM:618949 RIMKLA skos:exactMatch hgnc.symbol:RIMKLA semapv:UnspecifiedMatching OMIM:618949 RIMKLA skos:exactMatch ncbigene:284716 semapv:UnspecifiedMatching OMIM:618950 suleiman-el-hattab syndrome skos:exactMatch UMLS:C5436458 semapv:UnspecifiedMatching OMIM:618951 combined oxidative phosphorylation deficiency 45 skos:exactMatch UMLS:C5436461 semapv:UnspecifiedMatching OMIM:618952 combined oxidative phosphorylation deficiency 46 skos:exactMatch UMLS:C5436466 semapv:UnspecifiedMatching OMIM:618953 CYP4Z1 skos:exactMatch UMLS:C1539214 semapv:UnspecifiedMatching -OMIM:618953 CYP4Z1 skos:exactMatch hgnc:CYP4Z1 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:20583 semapv:UnspecifiedMatching +OMIM:618953 CYP4Z1 skos:exactMatch hgnc.symbol:CYP4Z1 semapv:UnspecifiedMatching OMIM:618953 CYP4Z1 skos:exactMatch ncbigene:199974 semapv:UnspecifiedMatching OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch UMLS:C2681396 semapv:UnspecifiedMatching -OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc:CYP4Z2P semapv:UnspecifiedMatching +OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:24426 semapv:UnspecifiedMatching +OMIM:618954 cytochrome p450, family 4, subfamily z, member 2, pseudogene skos:exactMatch hgnc.symbol:CYP4Z2P semapv:UnspecifiedMatching +OMIM:618955 retinitis pigmentosa 89 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:618955 retinitis pigmentosa 89 skos:exactMatch UMLS:C5394552 semapv:UnspecifiedMatching -OMIM:618955 retinitis pigmentosa 89 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching OMIM:618956 RHEBL1 skos:exactMatch UMLS:C1419384 semapv:UnspecifiedMatching -OMIM:618956 RHEBL1 skos:exactMatch hgnc:RHEBL1 semapv:UnspecifiedMatching +OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:21166 semapv:UnspecifiedMatching +OMIM:618956 RHEBL1 skos:exactMatch hgnc.symbol:RHEBL1 semapv:UnspecifiedMatching OMIM:618956 RHEBL1 skos:exactMatch ncbigene:121268 semapv:UnspecifiedMatching OMIM:618957 ANKRD27 skos:exactMatch UMLS:C1428472 semapv:UnspecifiedMatching -OMIM:618957 ANKRD27 skos:exactMatch hgnc:ANKRD27 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:25310 semapv:UnspecifiedMatching +OMIM:618957 ANKRD27 skos:exactMatch hgnc.symbol:ANKRD27 semapv:UnspecifiedMatching OMIM:618957 ANKRD27 skos:exactMatch ncbigene:84079 semapv:UnspecifiedMatching OMIM:618958 combined oxidative phosphorylation deficiency 47 skos:exactMatch UMLS:C5436476 semapv:UnspecifiedMatching +OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch UMLS:C5394553 semapv:UnspecifiedMatching -OMIM:618959 developmental and epileptic encephalopathy 88 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching OMIM:618960 mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching +OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch Orphanet:589435 semapv:UnspecifiedMatching OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch UMLS:C5394555 semapv:UnspecifiedMatching -OMIM:618961 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch orphanet.ordo:589435 semapv:UnspecifiedMatching OMIM:618962 OVCH2 skos:exactMatch UMLS:C1538556 semapv:UnspecifiedMatching -OMIM:618962 OVCH2 skos:exactMatch hgnc:OVCH2 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:29970 semapv:UnspecifiedMatching +OMIM:618962 OVCH2 skos:exactMatch hgnc.symbol:OVCH2 semapv:UnspecifiedMatching OMIM:618962 OVCH2 skos:exactMatch ncbigene:341277 semapv:UnspecifiedMatching OMIM:618963 immunodeficiency 69 skos:exactMatch UMLS:C5436498 semapv:UnspecifiedMatching OMIM:618964 RMND5A skos:exactMatch UMLS:C1826834 semapv:UnspecifiedMatching -OMIM:618964 RMND5A skos:exactMatch hgnc:RMND5A semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:25850 semapv:UnspecifiedMatching +OMIM:618964 RMND5A skos:exactMatch hgnc.symbol:RMND5A semapv:UnspecifiedMatching OMIM:618964 RMND5A skos:exactMatch ncbigene:64795 semapv:UnspecifiedMatching OMIM:618965 TM9SF1 skos:exactMatch UMLS:C1420772 semapv:UnspecifiedMatching -OMIM:618965 TM9SF1 skos:exactMatch hgnc:TM9SF1 semapv:UnspecifiedMatching +OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:11864 semapv:UnspecifiedMatching +OMIM:618965 TM9SF1 skos:exactMatch hgnc.symbol:TM9SF1 semapv:UnspecifiedMatching OMIM:618965 TM9SF1 skos:exactMatch ncbigene:10548 semapv:UnspecifiedMatching OMIM:618966 TMEM161A skos:exactMatch UMLS:C1823425 semapv:UnspecifiedMatching -OMIM:618966 TMEM161A skos:exactMatch hgnc:TMEM161A semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:26020 semapv:UnspecifiedMatching +OMIM:618966 TMEM161A skos:exactMatch hgnc.symbol:TMEM161A semapv:UnspecifiedMatching OMIM:618966 TMEM161A skos:exactMatch ncbigene:54929 semapv:UnspecifiedMatching OMIM:618967 ABCF3 skos:exactMatch UMLS:C1412095 semapv:UnspecifiedMatching -OMIM:618967 ABCF3 skos:exactMatch hgnc:ABCF3 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:72 semapv:UnspecifiedMatching +OMIM:618967 ABCF3 skos:exactMatch hgnc.symbol:ABCF3 semapv:UnspecifiedMatching OMIM:618967 ABCF3 skos:exactMatch ncbigene:55324 semapv:UnspecifiedMatching OMIM:618968 C1ORF146 skos:exactMatch UMLS:C1823765 semapv:UnspecifiedMatching -OMIM:618968 C1ORF146 skos:exactMatch hgnc:C1orf146 semapv:UnspecifiedMatching +OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:24032 semapv:UnspecifiedMatching +OMIM:618968 C1ORF146 skos:exactMatch hgnc.symbol:C1orf146 semapv:UnspecifiedMatching OMIM:618968 C1ORF146 skos:exactMatch ncbigene:388649 semapv:UnspecifiedMatching OMIM:618969 immunodeficiency 70 skos:exactMatch UMLS:C5436501 semapv:UnspecifiedMatching OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:exactMatch UMLS:C5436505 semapv:UnspecifiedMatching OMIM:618971 tolchin-le caignec syndrome skos:exactMatch UMLS:C5436509 semapv:UnspecifiedMatching OMIM:618972 mitochondrial DNA depletion syndrome 19 skos:exactMatch UMLS:C5436514 semapv:UnspecifiedMatching OMIM:618973 sodium-dependent multivitamin transporter deficiency skos:exactMatch UMLS:C5436520 semapv:UnspecifiedMatching +OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch UMLS:C5436525 semapv:UnspecifiedMatching -OMIM:618974 li-ghorbani-weisz-hubshman syndrome skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching OMIM:618975 congenital myopathy 17 skos:exactMatch UMLS:C5436530 semapv:UnspecifiedMatching OMIM:618976 MYOSLID skos:exactMatch UMLS:C4320587 semapv:UnspecifiedMatching -OMIM:618976 MYOSLID skos:exactMatch hgnc:MYOSLID semapv:UnspecifiedMatching +OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:51821 semapv:UnspecifiedMatching +OMIM:618976 MYOSLID skos:exactMatch hgnc.symbol:MYOSLID semapv:UnspecifiedMatching OMIM:618976 MYOSLID skos:exactMatch ncbigene:105373853 semapv:UnspecifiedMatching +OMIM:618977 optic atrophy 12 skos:exactMatch Orphanet:98673 semapv:UnspecifiedMatching OMIM:618977 optic atrophy 12 skos:exactMatch UMLS:C5436534 semapv:UnspecifiedMatching -OMIM:618977 optic atrophy 12 skos:exactMatch orphanet.ordo:98673 semapv:UnspecifiedMatching OMIM:618978 TMEM163 skos:exactMatch UMLS:C1823428 semapv:UnspecifiedMatching -OMIM:618978 TMEM163 skos:exactMatch hgnc:TMEM163 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:25380 semapv:UnspecifiedMatching +OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:TMEM163 semapv:UnspecifiedMatching OMIM:618978 TMEM163 skos:exactMatch ncbigene:81615 semapv:UnspecifiedMatching OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch UMLS:C3888126 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch UMLS:C1824570 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching -OMIM:618980 CEP112 skos:exactMatch hgnc:CEP112 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:28514 semapv:UnspecifiedMatching +OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:CEP112 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch ncbigene:201134 semapv:UnspecifiedMatching OMIM:618981 VPS35L skos:exactMatch UMLS:C2240311 semapv:UnspecifiedMatching OMIM:618981 VPS35L skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching -OMIM:618981 VPS35L skos:exactMatch hgnc:VPS35L semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:24641 semapv:UnspecifiedMatching +OMIM:618981 VPS35L skos:exactMatch hgnc.symbol:VPS35L semapv:UnspecifiedMatching OMIM:618981 VPS35L skos:exactMatch ncbigene:57020 semapv:UnspecifiedMatching OMIM:618982 immunodeficiency 72 with autoinflammation and lymphoproliferation skos:exactMatch UMLS:C5436540 semapv:UnspecifiedMatching OMIM:618983 blood group, lewis system skos:exactMatch UMLS:C0023595 semapv:UnspecifiedMatching OMIM:618984 SUN3 skos:exactMatch UMLS:C1539898 semapv:UnspecifiedMatching -OMIM:618984 SUN3 skos:exactMatch hgnc:SUN3 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:22429 semapv:UnspecifiedMatching +OMIM:618984 SUN3 skos:exactMatch hgnc.symbol:SUN3 semapv:UnspecifiedMatching OMIM:618984 SUN3 skos:exactMatch ncbigene:256979 semapv:UnspecifiedMatching OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:exactMatch UMLS:C5436546 semapv:UnspecifiedMatching OMIM:618986 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch UMLS:C5436549 semapv:UnspecifiedMatching +OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch Orphanet:183707 semapv:UnspecifiedMatching OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch UMLS:C5436550 semapv:UnspecifiedMatching -OMIM:618987 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch orphanet.ordo:183707 semapv:UnspecifiedMatching OMIM:618988 CLRN2 skos:exactMatch UMLS:C2239304 semapv:UnspecifiedMatching OMIM:618988 CLRN2 skos:exactMatch UMLS:C5436937 semapv:UnspecifiedMatching -OMIM:618988 CLRN2 skos:exactMatch hgnc:CLRN2 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:33939 semapv:UnspecifiedMatching +OMIM:618988 CLRN2 skos:exactMatch hgnc.symbol:CLRN2 semapv:UnspecifiedMatching OMIM:618988 CLRN2 skos:exactMatch ncbigene:645104 semapv:UnspecifiedMatching OMIM:618989 TMEM119 skos:exactMatch UMLS:C1823380 semapv:UnspecifiedMatching -OMIM:618989 TMEM119 skos:exactMatch hgnc:TMEM119 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:27884 semapv:UnspecifiedMatching +OMIM:618989 TMEM119 skos:exactMatch hgnc.symbol:TMEM119 semapv:UnspecifiedMatching OMIM:618989 TMEM119 skos:exactMatch ncbigene:338773 semapv:UnspecifiedMatching OMIM:618990 EVA1A skos:exactMatch UMLS:C1823431 semapv:UnspecifiedMatching -OMIM:618990 EVA1A skos:exactMatch hgnc:EVA1A semapv:UnspecifiedMatching +OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:25816 semapv:UnspecifiedMatching +OMIM:618990 EVA1A skos:exactMatch hgnc.symbol:EVA1A semapv:UnspecifiedMatching OMIM:618990 EVA1A skos:exactMatch ncbigene:84141 semapv:UnspecifiedMatching OMIM:618991 SEMA4G skos:exactMatch UMLS:C1419953 semapv:UnspecifiedMatching -OMIM:618991 SEMA4G skos:exactMatch hgnc:SEMA4G semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:10735 semapv:UnspecifiedMatching +OMIM:618991 SEMA4G skos:exactMatch hgnc.symbol:SEMA4G semapv:UnspecifiedMatching OMIM:618991 SEMA4G skos:exactMatch ncbigene:57715 semapv:UnspecifiedMatching OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 skos:exactMatch UMLS:C5436552 semapv:UnspecifiedMatching OMIM:618993 RNF208 skos:exactMatch UMLS:C2239896 semapv:UnspecifiedMatching -OMIM:618993 RNF208 skos:exactMatch hgnc:RNF208 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:25420 semapv:UnspecifiedMatching +OMIM:618993 RNF208 skos:exactMatch hgnc.symbol:RNF208 semapv:UnspecifiedMatching OMIM:618993 RNF208 skos:exactMatch ncbigene:727800 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch UMLS:C1825370 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching -OMIM:618994 HPDL skos:exactMatch hgnc:HPDL semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch hgnc.symbol:28242 semapv:UnspecifiedMatching +OMIM:618994 HPDL skos:exactMatch hgnc.symbol:HPDL semapv:UnspecifiedMatching OMIM:618994 HPDL skos:exactMatch ncbigene:84842 semapv:UnspecifiedMatching OMIM:618995 BPESC1 skos:exactMatch UMLS:C1421889 semapv:UnspecifiedMatching -OMIM:618995 BPESC1 skos:exactMatch hgnc:BPESC1 semapv:UnspecifiedMatching +OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:13228 semapv:UnspecifiedMatching +OMIM:618995 BPESC1 skos:exactMatch hgnc.symbol:BPESC1 semapv:UnspecifiedMatching OMIM:618995 BPESC1 skos:exactMatch ncbigene:60467 semapv:UnspecifiedMatching OMIM:618996 LRRC3B skos:exactMatch UMLS:C1537593 semapv:UnspecifiedMatching -OMIM:618996 LRRC3B skos:exactMatch hgnc:LRRC3B semapv:UnspecifiedMatching +OMIM:618996 LRRC3B skos:exactMatch hgnc.symbol:28105 semapv:UnspecifiedMatching +OMIM:618996 LRRC3B skos:exactMatch hgnc.symbol:LRRC3B semapv:UnspecifiedMatching OMIM:618996 LRRC3B skos:exactMatch ncbigene:116135 semapv:UnspecifiedMatching OMIM:618997 CDADC1 skos:exactMatch UMLS:C1426841 semapv:UnspecifiedMatching -OMIM:618997 CDADC1 skos:exactMatch hgnc:CDADC1 semapv:UnspecifiedMatching +OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:20299 semapv:UnspecifiedMatching +OMIM:618997 CDADC1 skos:exactMatch hgnc.symbol:CDADC1 semapv:UnspecifiedMatching OMIM:618997 CDADC1 skos:exactMatch ncbigene:81602 semapv:UnspecifiedMatching OMIM:618998 immune dysregulation and systemic hyperinflammation syndrome skos:exactMatch UMLS:C5436563 semapv:UnspecifiedMatching OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia skos:exactMatch UMLS:C5436572 semapv:UnspecifiedMatching +OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch UMLS:C5436574 semapv:UnspecifiedMatching -OMIM:619000 intellectual developmental disorder with seizures and language delay skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching OMIM:619001 ANGEL2 skos:exactMatch UMLS:C1823660 semapv:UnspecifiedMatching -OMIM:619001 ANGEL2 skos:exactMatch hgnc:ANGEL2 semapv:UnspecifiedMatching +OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:30534 semapv:UnspecifiedMatching +OMIM:619001 ANGEL2 skos:exactMatch hgnc.symbol:ANGEL2 semapv:UnspecifiedMatching OMIM:619001 ANGEL2 skos:exactMatch ncbigene:90806 semapv:UnspecifiedMatching OMIM:619002 LRRC18 skos:exactMatch UMLS:C1537598 semapv:UnspecifiedMatching -OMIM:619002 LRRC18 skos:exactMatch hgnc:LRRC18 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:23199 semapv:UnspecifiedMatching +OMIM:619002 LRRC18 skos:exactMatch hgnc.symbol:LRRC18 semapv:UnspecifiedMatching OMIM:619002 LRRC18 skos:exactMatch ncbigene:474354 semapv:UnspecifiedMatching OMIM:619003 mitochondrial complex 1 deficiency, nuclear iia 35 skos:exactMatch UMLS:C5436576 semapv:UnspecifiedMatching OMIM:619004 deeah syndrome skos:exactMatch UMLS:C5436579 semapv:UnspecifiedMatching OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:exactMatch UMLS:C5436585 semapv:UnspecifiedMatching OMIM:619006 BIVM skos:exactMatch UMLS:C1423926 semapv:UnspecifiedMatching -OMIM:619006 BIVM skos:exactMatch hgnc:BIVM semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch hgnc.symbol:16034 semapv:UnspecifiedMatching +OMIM:619006 BIVM skos:exactMatch hgnc.symbol:BIVM semapv:UnspecifiedMatching OMIM:619006 BIVM skos:exactMatch ncbigene:54841 semapv:UnspecifiedMatching +OMIM:619007 retinitis pigmentosa 90 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:619007 retinitis pigmentosa 90 skos:exactMatch UMLS:C5436588 semapv:UnspecifiedMatching -OMIM:619007 retinitis pigmentosa 90 skos:exactMatch orphanet.ordo:791 semapv:UnspecifiedMatching OMIM:619008 LINC00598 skos:exactMatch UMLS:C1427631 semapv:UnspecifiedMatching -OMIM:619008 LINC00598 skos:exactMatch hgnc:LINC00598 semapv:UnspecifiedMatching +OMIM:619008 LINC00598 skos:exactMatch hgnc.symbol:42770 semapv:UnspecifiedMatching +OMIM:619008 LINC00598 skos:exactMatch hgnc.symbol:LINC00598 semapv:UnspecifiedMatching OMIM:619008 LINC00598 skos:exactMatch ncbigene:646982 semapv:UnspecifiedMatching OMIM:619009 oocyte/zygote/embryo maturation arrest 8 skos:exactMatch UMLS:C5436597 semapv:UnspecifiedMatching OMIM:619010 ATXN7L3 skos:exactMatch UMLS:C1538306 semapv:UnspecifiedMatching -OMIM:619010 ATXN7L3 skos:exactMatch hgnc:ATXN7L3 semapv:UnspecifiedMatching +OMIM:619010 ATXN7L3 skos:exactMatch hgnc.symbol:25416 semapv:UnspecifiedMatching +OMIM:619010 ATXN7L3 skos:exactMatch hgnc.symbol:ATXN7L3 semapv:UnspecifiedMatching OMIM:619010 ATXN7L3 skos:exactMatch ncbigene:56970 semapv:UnspecifiedMatching OMIM:619011 oocyte/zygote/embryo maturation arrest 9 skos:exactMatch UMLS:C5436599 semapv:UnspecifiedMatching OMIM:619012 combined oxidative phosphorylation deficiency 48 skos:exactMatch UMLS:C5436602 semapv:UnspecifiedMatching +OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch Orphanet:178506 semapv:UnspecifiedMatching OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch UMLS:C5436603 semapv:UnspecifiedMatching -OMIM:619013 rajab interstitial lung disease with brain calcifications 2 skos:exactMatch orphanet.ordo:178506 semapv:UnspecifiedMatching OMIM:619014 TTC5 skos:exactMatch UMLS:C1426138 semapv:UnspecifiedMatching -OMIM:619014 TTC5 skos:exactMatch hgnc:TTC5 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:19274 semapv:UnspecifiedMatching +OMIM:619014 TTC5 skos:exactMatch hgnc.symbol:TTC5 semapv:UnspecifiedMatching OMIM:619014 TTC5 skos:exactMatch ncbigene:91875 semapv:UnspecifiedMatching OMIM:619015 ENY2 skos:exactMatch UMLS:C1825055 semapv:UnspecifiedMatching -OMIM:619015 ENY2 skos:exactMatch hgnc:ENY2 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:24449 semapv:UnspecifiedMatching +OMIM:619015 ENY2 skos:exactMatch hgnc.symbol:ENY2 semapv:UnspecifiedMatching OMIM:619015 ENY2 skos:exactMatch ncbigene:56943 semapv:UnspecifiedMatching +OMIM:619016 ifap syndrome 2 skos:exactMatch Orphanet:2273 semapv:UnspecifiedMatching OMIM:619016 ifap syndrome 2 skos:exactMatch UMLS:C5436607 semapv:UnspecifiedMatching -OMIM:619016 ifap syndrome 2 skos:exactMatch orphanet.ordo:2273 semapv:UnspecifiedMatching OMIM:619017 RHBDL3 skos:exactMatch UMLS:C1424334 semapv:UnspecifiedMatching -OMIM:619017 RHBDL3 skos:exactMatch hgnc:RHBDL3 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:16502 semapv:UnspecifiedMatching +OMIM:619017 RHBDL3 skos:exactMatch hgnc.symbol:RHBDL3 semapv:UnspecifiedMatching OMIM:619017 RHBDL3 skos:exactMatch ncbigene:162494 semapv:UnspecifiedMatching OMIM:619018 MIR30B skos:exactMatch UMLS:C1537737 semapv:UnspecifiedMatching -OMIM:619018 MIR30B skos:exactMatch hgnc:MIR30B semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:31625 semapv:UnspecifiedMatching +OMIM:619018 MIR30B skos:exactMatch hgnc.symbol:MIR30B semapv:UnspecifiedMatching OMIM:619018 MIR30B skos:exactMatch ncbigene:407030 semapv:UnspecifiedMatching OMIM:619019 MIR30D skos:exactMatch UMLS:C1537740 semapv:UnspecifiedMatching -OMIM:619019 MIR30D skos:exactMatch hgnc:MIR30D semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:31628 semapv:UnspecifiedMatching +OMIM:619019 MIR30D skos:exactMatch hgnc.symbol:MIR30D semapv:UnspecifiedMatching OMIM:619019 MIR30D skos:exactMatch ncbigene:407033 semapv:UnspecifiedMatching OMIM:619020 LRP2BP skos:exactMatch UMLS:C1537591 semapv:UnspecifiedMatching -OMIM:619020 LRP2BP skos:exactMatch hgnc:LRP2BP semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:25434 semapv:UnspecifiedMatching +OMIM:619020 LRP2BP skos:exactMatch hgnc.symbol:LRP2BP semapv:UnspecifiedMatching OMIM:619020 LRP2BP skos:exactMatch ncbigene:55805 semapv:UnspecifiedMatching OMIM:619021 ANKRD37 skos:exactMatch UMLS:C1538295 semapv:UnspecifiedMatching -OMIM:619021 ANKRD37 skos:exactMatch hgnc:ANKRD37 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:29593 semapv:UnspecifiedMatching +OMIM:619021 ANKRD37 skos:exactMatch hgnc.symbol:ANKRD37 semapv:UnspecifiedMatching OMIM:619021 ANKRD37 skos:exactMatch ncbigene:353322 semapv:UnspecifiedMatching OMIM:619022 TMEM229B skos:exactMatch UMLS:C1426714 semapv:UnspecifiedMatching -OMIM:619022 TMEM229B skos:exactMatch hgnc:TMEM229B semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:20130 semapv:UnspecifiedMatching +OMIM:619022 TMEM229B skos:exactMatch hgnc.symbol:TMEM229B semapv:UnspecifiedMatching OMIM:619022 TMEM229B skos:exactMatch ncbigene:161145 semapv:UnspecifiedMatching OMIM:619023 OSTC skos:exactMatch UMLS:C2678545 semapv:UnspecifiedMatching -OMIM:619023 OSTC skos:exactMatch hgnc:OSTC semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch hgnc.symbol:24448 semapv:UnspecifiedMatching +OMIM:619023 OSTC skos:exactMatch hgnc.symbol:OSTC semapv:UnspecifiedMatching OMIM:619023 OSTC skos:exactMatch ncbigene:58505 semapv:UnspecifiedMatching OMIM:619024 combined oxidative phosphorylation deficiency 49 skos:exactMatch UMLS:C5436616 semapv:UnspecifiedMatching OMIM:619025 combined oxidative phosphorylation deficiency 50 skos:exactMatch UMLS:C5436623 semapv:UnspecifiedMatching OMIM:619026 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch UMLS:C5436628 semapv:UnspecifiedMatching OMIM:619027 spastic paraplegia 83, autosomal recessive skos:exactMatch UMLS:C5436637 semapv:UnspecifiedMatching +OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch UMLS:C5436638 semapv:UnspecifiedMatching -OMIM:619028 coenzyme Q10 deficiency, primary, 9 skos:exactMatch orphanet.ordo:139485 semapv:UnspecifiedMatching OMIM:619029 KRTCAP2 skos:exactMatch UMLS:C1428752 semapv:UnspecifiedMatching -OMIM:619029 KRTCAP2 skos:exactMatch hgnc:KRTCAP2 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:28942 semapv:UnspecifiedMatching +OMIM:619029 KRTCAP2 skos:exactMatch hgnc.symbol:KRTCAP2 semapv:UnspecifiedMatching OMIM:619029 KRTCAP2 skos:exactMatch ncbigene:200185 semapv:UnspecifiedMatching OMIM:619030 skeletal muscle glycogen content and metabolism quantitative trait locus skos:exactMatch UMLS:C5436642 semapv:UnspecifiedMatching OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:exactMatch UMLS:C5436646 semapv:UnspecifiedMatching OMIM:619032 RCN3 skos:exactMatch UMLS:C1427360 semapv:UnspecifiedMatching -OMIM:619032 RCN3 skos:exactMatch hgnc:RCN3 semapv:UnspecifiedMatching +OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:21145 semapv:UnspecifiedMatching +OMIM:619032 RCN3 skos:exactMatch hgnc.symbol:RCN3 semapv:UnspecifiedMatching OMIM:619032 RCN3 skos:exactMatch ncbigene:57333 semapv:UnspecifiedMatching OMIM:619033 vissers-bodmer syndrome skos:exactMatch UMLS:C5436647 semapv:UnspecifiedMatching OMIM:619034 RBPMS2 skos:exactMatch UMLS:C1538819 semapv:UnspecifiedMatching -OMIM:619034 RBPMS2 skos:exactMatch hgnc:RBPMS2 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:19098 semapv:UnspecifiedMatching +OMIM:619034 RBPMS2 skos:exactMatch hgnc.symbol:RBPMS2 semapv:UnspecifiedMatching OMIM:619034 RBPMS2 skos:exactMatch ncbigene:348093 semapv:UnspecifiedMatching OMIM:619035 MIR29B2 skos:exactMatch UMLS:C1537734 semapv:UnspecifiedMatching -OMIM:619035 MIR29B2 skos:exactMatch hgnc:MIR29B2 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:31620 semapv:UnspecifiedMatching +OMIM:619035 MIR29B2 skos:exactMatch hgnc.symbol:MIR29B2 semapv:UnspecifiedMatching OMIM:619035 MIR29B2 skos:exactMatch ncbigene:407025 semapv:UnspecifiedMatching OMIM:619036 myopathy, epilepsy, and progressive cerebral atrophy skos:exactMatch UMLS:C5436652 semapv:UnspecifiedMatching OMIM:619037 LRRC34 skos:exactMatch UMLS:C1537609 semapv:UnspecifiedMatching -OMIM:619037 LRRC34 skos:exactMatch hgnc:LRRC34 semapv:UnspecifiedMatching +OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:28408 semapv:UnspecifiedMatching +OMIM:619037 LRRC34 skos:exactMatch hgnc.symbol:LRRC34 semapv:UnspecifiedMatching OMIM:619037 LRRC34 skos:exactMatch ncbigene:151827 semapv:UnspecifiedMatching OMIM:619038 SPOCD1 skos:exactMatch UMLS:C1539846 semapv:UnspecifiedMatching -OMIM:619038 SPOCD1 skos:exactMatch hgnc:SPOCD1 semapv:UnspecifiedMatching +OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:26338 semapv:UnspecifiedMatching +OMIM:619038 SPOCD1 skos:exactMatch hgnc.symbol:SPOCD1 semapv:UnspecifiedMatching OMIM:619038 SPOCD1 skos:exactMatch ncbigene:90853 semapv:UnspecifiedMatching OMIM:619039 REPIN1 skos:exactMatch UMLS:C1425179 semapv:UnspecifiedMatching -OMIM:619039 REPIN1 skos:exactMatch hgnc:REPIN1 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:17922 semapv:UnspecifiedMatching +OMIM:619039 REPIN1 skos:exactMatch hgnc.symbol:REPIN1 semapv:UnspecifiedMatching OMIM:619039 REPIN1 skos:exactMatch ncbigene:29803 semapv:UnspecifiedMatching OMIM:619040 myofibrillar myopathy 10 skos:exactMatch UMLS:C5436656 semapv:UnspecifiedMatching +OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch Orphanet:495930 semapv:UnspecifiedMatching OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch UMLS:C5436668 semapv:UnspecifiedMatching -OMIM:619041 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:exactMatch orphanet.ordo:495930 semapv:UnspecifiedMatching OMIM:619042 spinal muscular atrophy, infantile, james iia skos:exactMatch UMLS:C5436669 semapv:UnspecifiedMatching OMIM:619043 IPPK skos:exactMatch UMLS:C1825614 semapv:UnspecifiedMatching -OMIM:619043 IPPK skos:exactMatch hgnc:IPPK semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch hgnc.symbol:14645 semapv:UnspecifiedMatching +OMIM:619043 IPPK skos:exactMatch hgnc.symbol:IPPK semapv:UnspecifiedMatching OMIM:619043 IPPK skos:exactMatch ncbigene:64768 semapv:UnspecifiedMatching +OMIM:619044 spermatogenic failure 44 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619044 spermatogenic failure 44 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching -OMIM:619044 spermatogenic failure 44 skos:exactMatch orphanet.ordo:399808 semapv:UnspecifiedMatching OMIM:619045 SERHL2 skos:exactMatch UMLS:C1539752 semapv:UnspecifiedMatching -OMIM:619045 SERHL2 skos:exactMatch hgnc:SERHL2 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:29446 semapv:UnspecifiedMatching +OMIM:619045 SERHL2 skos:exactMatch hgnc.symbol:SERHL2 semapv:UnspecifiedMatching OMIM:619045 SERHL2 skos:exactMatch ncbigene:253190 semapv:UnspecifiedMatching +OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching -OMIM:619046 mitochondrial complex 4 deficiency, nuclear iia 3 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching OMIM:619047 PPP1R32 skos:exactMatch UMLS:C3471436 semapv:UnspecifiedMatching -OMIM:619047 PPP1R32 skos:exactMatch hgnc:SAXO4 semapv:UnspecifiedMatching +OMIM:619047 PPP1R32 skos:exactMatch hgnc.symbol:SAXO4 semapv:UnspecifiedMatching OMIM:619047 PPP1R32 skos:exactMatch ncbigene:220004 semapv:UnspecifiedMatching +OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -OMIM:619048 mitochondrial complex 4 deficiency, nuclear iia 4 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching OMIM:619049 TDRP skos:exactMatch UMLS:C1824251 semapv:UnspecifiedMatching -OMIM:619049 TDRP skos:exactMatch hgnc:TDRP semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch hgnc.symbol:26951 semapv:UnspecifiedMatching +OMIM:619049 TDRP skos:exactMatch hgnc.symbol:TDRP semapv:UnspecifiedMatching OMIM:619049 TDRP skos:exactMatch ncbigene:157695 semapv:UnspecifiedMatching OMIM:619050 HMGCLL1 skos:exactMatch UMLS:C1427507 semapv:UnspecifiedMatching -OMIM:619050 HMGCLL1 skos:exactMatch hgnc:HMGCLL1 semapv:UnspecifiedMatching +OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:21359 semapv:UnspecifiedMatching +OMIM:619050 HMGCLL1 skos:exactMatch hgnc.symbol:HMGCLL1 semapv:UnspecifiedMatching OMIM:619050 HMGCLL1 skos:exactMatch ncbigene:54511 semapv:UnspecifiedMatching +OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching -OMIM:619051 mitochondrial complex 4 deficiency, nuclear iia 7 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching -OMIM:619052 mitochondrial complex 4 deficiency, nuclear iia 8 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching -OMIM:619053 mitochondrial complex 4 deficiency, nuclear iia 10 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching -OMIM:619054 mitochondrial complex 4 deficiency, nuclear iia 11 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching -OMIM:619055 mitochondrial complex 4 deficiency, nuclear iia 12 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching OMIM:619056 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch UMLS:C5436699 semapv:UnspecifiedMatching OMIM:619057 combined oxidative phosphorylation deficiency 51 skos:exactMatch UMLS:C5436703 semapv:UnspecifiedMatching +OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching -OMIM:619058 mitochondrial complex 4 deficiency, nuclear iia 14 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching -OMIM:619059 mitochondrial complex 4 deficiency, nuclear iia 15 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching -OMIM:619060 mitochondrial complex 4 deficiency, nuclear iia 16 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching -OMIM:619061 mitochondrial complex 4 deficiency, nuclear iia 17 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching -OMIM:619062 mitochondrial complex 4 deficiency, nuclear iia 18 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching -OMIM:619063 mitochondrial complex 4 deficiency, nuclear iia 19 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch Orphanet:254905 semapv:UnspecifiedMatching OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -OMIM:619064 mitochondrial complex 4 deficiency, nuclear iia 20 skos:exactMatch orphanet.ordo:254905 semapv:UnspecifiedMatching +OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch Orphanet:70472 semapv:UnspecifiedMatching OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching -OMIM:619065 mitochondrial complex 4 deficiency, nuclear iia 21 skos:exactMatch orphanet.ordo:70472 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch UMLS:C1429015 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch UMLS:C5436729 semapv:UnspecifiedMatching -OMIM:619066 ZNF532 skos:exactMatch hgnc:ZNF532 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:30940 semapv:UnspecifiedMatching +OMIM:619066 ZNF532 skos:exactMatch hgnc.symbol:ZNF532 semapv:UnspecifiedMatching OMIM:619066 ZNF532 skos:exactMatch ncbigene:55205 semapv:UnspecifiedMatching OMIM:619067 HSDL1 skos:exactMatch UMLS:C1537382 semapv:UnspecifiedMatching -OMIM:619067 HSDL1 skos:exactMatch hgnc:HSDL1 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:16475 semapv:UnspecifiedMatching +OMIM:619067 HSDL1 skos:exactMatch hgnc.symbol:HSDL1 semapv:UnspecifiedMatching OMIM:619067 HSDL1 skos:exactMatch ncbigene:83693 semapv:UnspecifiedMatching OMIM:619068 LRRC19 skos:exactMatch UMLS:C1428058 semapv:UnspecifiedMatching -OMIM:619068 LRRC19 skos:exactMatch hgnc:LRRC19 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:23379 semapv:UnspecifiedMatching +OMIM:619068 LRRC19 skos:exactMatch hgnc.symbol:LRRC19 semapv:UnspecifiedMatching OMIM:619068 LRRC19 skos:exactMatch ncbigene:64922 semapv:UnspecifiedMatching OMIM:619069 TENT5B skos:exactMatch UMLS:C1539444 semapv:UnspecifiedMatching -OMIM:619069 TENT5B skos:exactMatch hgnc:TENT5B semapv:UnspecifiedMatching +OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:28273 semapv:UnspecifiedMatching +OMIM:619069 TENT5B skos:exactMatch hgnc.symbol:TENT5B semapv:UnspecifiedMatching OMIM:619069 TENT5B skos:exactMatch ncbigene:115572 semapv:UnspecifiedMatching OMIM:619070 LETMD1 skos:exactMatch UMLS:C1537567 semapv:UnspecifiedMatching -OMIM:619070 LETMD1 skos:exactMatch hgnc:LETMD1 semapv:UnspecifiedMatching +OMIM:619070 LETMD1 skos:exactMatch hgnc.symbol:24241 semapv:UnspecifiedMatching +OMIM:619070 LETMD1 skos:exactMatch hgnc.symbol:LETMD1 semapv:UnspecifiedMatching OMIM:619070 LETMD1 skos:exactMatch ncbigene:25875 semapv:UnspecifiedMatching OMIM:619071 leukodystrophy, hypomyelinating, 20 skos:exactMatch UMLS:C5436730 semapv:UnspecifiedMatching OMIM:619072 neurodevelopmental disorder with seizures and brain atrophy skos:exactMatch UMLS:C5436732 semapv:UnspecifiedMatching +OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch Orphanet:93160 semapv:UnspecifiedMatching OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch UMLS:C5436733 semapv:UnspecifiedMatching -OMIM:619073 vitamin d-dependent rickets, iia 3 skos:exactMatch orphanet.ordo:93160 semapv:UnspecifiedMatching OMIM:619074 cleft palate, proliferative retinopathy, and developmental delay skos:exactMatch UMLS:C5436739 semapv:UnspecifiedMatching OMIM:619075 bachmann-bupp syndrome skos:exactMatch UMLS:C5436741 semapv:UnspecifiedMatching OMIM:619076 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:exactMatch UMLS:C5436747 semapv:UnspecifiedMatching OMIM:619077 HSPA4L skos:exactMatch UMLS:C1537386 semapv:UnspecifiedMatching -OMIM:619077 HSPA4L skos:exactMatch hgnc:HSPA4L semapv:UnspecifiedMatching +OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:17041 semapv:UnspecifiedMatching +OMIM:619077 HSPA4L skos:exactMatch hgnc.symbol:HSPA4L semapv:UnspecifiedMatching OMIM:619077 HSPA4L skos:exactMatch ncbigene:22824 semapv:UnspecifiedMatching OMIM:619078 KLHL11 skos:exactMatch UMLS:C1425947 semapv:UnspecifiedMatching -OMIM:619078 KLHL11 skos:exactMatch hgnc:KLHL11 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:19008 semapv:UnspecifiedMatching +OMIM:619078 KLHL11 skos:exactMatch hgnc.symbol:KLHL11 semapv:UnspecifiedMatching OMIM:619078 KLHL11 skos:exactMatch ncbigene:55175 semapv:UnspecifiedMatching OMIM:619079 inflammatory bowel disease (crohn disease) 30 skos:exactMatch UMLS:C5436750 semapv:UnspecifiedMatching OMIM:619080 kilquist syndrome skos:exactMatch UMLS:C5436756 semapv:UnspecifiedMatching +OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch Orphanet:90635 semapv:UnspecifiedMatching OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch UMLS:C5436768 semapv:UnspecifiedMatching -OMIM:619081 deafness, autosomal dominant 78 skos:exactMatch orphanet.ordo:90635 semapv:UnspecifiedMatching OMIM:619082 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:exactMatch UMLS:C5436769 semapv:UnspecifiedMatching +OMIM:619083 delpire-mcneill syndrome skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619083 delpire-mcneill syndrome skos:exactMatch UMLS:C5436771 semapv:UnspecifiedMatching -OMIM:619083 delpire-mcneill syndrome skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching OMIM:619084 TIGD3 skos:exactMatch UMLS:C1425454 semapv:UnspecifiedMatching -OMIM:619084 TIGD3 skos:exactMatch hgnc:TIGD3 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:18334 semapv:UnspecifiedMatching +OMIM:619084 TIGD3 skos:exactMatch hgnc.symbol:TIGD3 semapv:UnspecifiedMatching OMIM:619084 TIGD3 skos:exactMatch ncbigene:220359 semapv:UnspecifiedMatching OMIM:619085 PRANCR skos:exactMatch UMLS:C5240597 semapv:UnspecifiedMatching -OMIM:619085 PRANCR skos:exactMatch hgnc:PRANCR semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:51126 semapv:UnspecifiedMatching +OMIM:619085 PRANCR skos:exactMatch hgnc.symbol:PRANCR semapv:UnspecifiedMatching OMIM:619085 PRANCR skos:exactMatch ncbigene:101928062 semapv:UnspecifiedMatching OMIM:619086 deafness, autosomal dominant 79 skos:exactMatch UMLS:C5436772 semapv:UnspecifiedMatching +OMIM:619087 noonan syndrome 13 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:619087 noonan syndrome 13 skos:exactMatch UMLS:C5436773 semapv:UnspecifiedMatching -OMIM:619087 noonan syndrome 13 skos:exactMatch orphanet.ordo:648 semapv:UnspecifiedMatching OMIM:619088 NUGGC skos:exactMatch UMLS:C2240287 semapv:UnspecifiedMatching -OMIM:619088 NUGGC skos:exactMatch hgnc:NUGGC semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:33550 semapv:UnspecifiedMatching +OMIM:619088 NUGGC skos:exactMatch hgnc.symbol:NUGGC semapv:UnspecifiedMatching OMIM:619088 NUGGC skos:exactMatch ncbigene:389643 semapv:UnspecifiedMatching OMIM:619089 GIPC2 skos:exactMatch UMLS:C1825352 semapv:UnspecifiedMatching -OMIM:619089 GIPC2 skos:exactMatch hgnc:GIPC2 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:18177 semapv:UnspecifiedMatching +OMIM:619089 GIPC2 skos:exactMatch hgnc.symbol:GIPC2 semapv:UnspecifiedMatching OMIM:619089 GIPC2 skos:exactMatch ncbigene:54810 semapv:UnspecifiedMatching OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:exactMatch UMLS:C5436783 semapv:UnspecifiedMatching OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:exactMatch UMLS:C5436788 semapv:UnspecifiedMatching OMIM:619093 deafness, autosomal recessive 116 skos:exactMatch UMLS:C5436789 semapv:UnspecifiedMatching +OMIM:619094 spermatogenic failure 45 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619094 spermatogenic failure 45 skos:exactMatch UMLS:C5436791 semapv:UnspecifiedMatching -OMIM:619094 spermatogenic failure 45 skos:exactMatch orphanet.ordo:399808 semapv:UnspecifiedMatching +OMIM:619095 spermatogenic failure 46 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619095 spermatogenic failure 46 skos:exactMatch UMLS:C5436799 semapv:UnspecifiedMatching -OMIM:619095 spermatogenic failure 46 skos:exactMatch orphanet.ordo:399808 semapv:UnspecifiedMatching +OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch UMLS:C5436806 semapv:UnspecifiedMatching -OMIM:619096 mismatch repair cancer syndrome 2 skos:exactMatch orphanet.ordo:252202 semapv:UnspecifiedMatching +OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch UMLS:C5436807 semapv:UnspecifiedMatching -OMIM:619097 mismatch repair cancer syndrome 3 skos:exactMatch orphanet.ordo:252202 semapv:UnspecifiedMatching OMIM:619098 M1AP skos:exactMatch UMLS:C2240259 semapv:UnspecifiedMatching OMIM:619098 M1AP skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching -OMIM:619098 M1AP skos:exactMatch hgnc:M1AP semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch hgnc.symbol:25183 semapv:UnspecifiedMatching +OMIM:619098 M1AP skos:exactMatch hgnc.symbol:M1AP semapv:UnspecifiedMatching OMIM:619098 M1AP skos:exactMatch ncbigene:130951 semapv:UnspecifiedMatching +OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch UMLS:C5436813 semapv:UnspecifiedMatching -OMIM:619099 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:exactMatch orphanet.ordo:528084 semapv:UnspecifiedMatching OMIM:619100 CCDC25 skos:exactMatch UMLS:C1824550 semapv:UnspecifiedMatching -OMIM:619100 CCDC25 skos:exactMatch hgnc:CCDC25 semapv:UnspecifiedMatching +OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:25591 semapv:UnspecifiedMatching +OMIM:619100 CCDC25 skos:exactMatch hgnc.symbol:CCDC25 semapv:UnspecifiedMatching OMIM:619100 CCDC25 skos:exactMatch ncbigene:55246 semapv:UnspecifiedMatching +OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch Orphanet:252202 semapv:UnspecifiedMatching OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch UMLS:C5436817 semapv:UnspecifiedMatching -OMIM:619101 mismatch repair cancer syndrome 4 skos:exactMatch orphanet.ordo:252202 semapv:UnspecifiedMatching +OMIM:619102 spermatogenic failure 47 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619102 spermatogenic failure 47 skos:exactMatch UMLS:C5436818 semapv:UnspecifiedMatching -OMIM:619102 spermatogenic failure 47 skos:exactMatch orphanet.ordo:399808 semapv:UnspecifiedMatching OMIM:619103 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities skos:exactMatch UMLS:C5436821 semapv:UnspecifiedMatching OMIM:619104 RBM47 skos:exactMatch UMLS:C2239875 semapv:UnspecifiedMatching -OMIM:619104 RBM47 skos:exactMatch hgnc:RBM47 semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:30358 semapv:UnspecifiedMatching +OMIM:619104 RBM47 skos:exactMatch hgnc.symbol:RBM47 semapv:UnspecifiedMatching OMIM:619104 RBM47 skos:exactMatch ncbigene:54502 semapv:UnspecifiedMatching OMIM:619105 MIR30E skos:exactMatch UMLS:C1537741 semapv:UnspecifiedMatching -OMIM:619105 MIR30E skos:exactMatch hgnc:MIR30E semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:31629 semapv:UnspecifiedMatching +OMIM:619105 MIR30E skos:exactMatch hgnc.symbol:MIR30E semapv:UnspecifiedMatching OMIM:619105 MIR30E skos:exactMatch ncbigene:407034 semapv:UnspecifiedMatching OMIM:619106 PRRT3AS1 skos:exactMatch UMLS:C5436822 semapv:UnspecifiedMatching -OMIM:619106 PRRT3AS1 skos:exactMatch hgnc:PRRT3-AS1 semapv:UnspecifiedMatching +OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:41151 semapv:UnspecifiedMatching +OMIM:619106 PRRT3AS1 skos:exactMatch hgnc.symbol:PRRT3-AS1 semapv:UnspecifiedMatching OMIM:619106 PRRT3AS1 skos:exactMatch ncbigene:100874032 semapv:UnspecifiedMatching OMIM:619107 SNX33 skos:exactMatch UMLS:C1822710 semapv:UnspecifiedMatching -OMIM:619107 SNX33 skos:exactMatch hgnc:SNX33 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:28468 semapv:UnspecifiedMatching +OMIM:619107 SNX33 skos:exactMatch hgnc.symbol:SNX33 semapv:UnspecifiedMatching OMIM:619107 SNX33 skos:exactMatch ncbigene:257364 semapv:UnspecifiedMatching +OMIM:619108 spermatogenic failure 48 skos:exactMatch Orphanet:399805 semapv:UnspecifiedMatching OMIM:619108 spermatogenic failure 48 skos:exactMatch UMLS:C5436823 semapv:UnspecifiedMatching -OMIM:619108 spermatogenic failure 48 skos:exactMatch orphanet.ordo:399805 semapv:UnspecifiedMatching OMIM:619109 YIF1B skos:exactMatch UMLS:C1538126 semapv:UnspecifiedMatching OMIM:619109 YIF1B skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching -OMIM:619109 YIF1B skos:exactMatch hgnc:YIF1B semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:30511 semapv:UnspecifiedMatching +OMIM:619109 YIF1B skos:exactMatch hgnc.symbol:YIF1B semapv:UnspecifiedMatching OMIM:619109 YIF1B skos:exactMatch ncbigene:90522 semapv:UnspecifiedMatching +OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch Orphanet:1146 semapv:UnspecifiedMatching OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch UMLS:C5436834 semapv:UnspecifiedMatching -OMIM:619110 arthrogryposis, distal, iia 1c skos:exactMatch orphanet.ordo:1146 semapv:UnspecifiedMatching +OMIM:619111 coach syndrome 2 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching OMIM:619111 coach syndrome 2 skos:exactMatch UMLS:C5436837 semapv:UnspecifiedMatching -OMIM:619111 coach syndrome 2 skos:exactMatch orphanet.ordo:1454 semapv:UnspecifiedMatching +OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch UMLS:C5436838 semapv:UnspecifiedMatching -OMIM:619112 neuronopathy, distal hereditary motor, autosomal dominant 13 skos:exactMatch orphanet.ordo:139536 semapv:UnspecifiedMatching +OMIM:619113 coach syndrome 3 skos:exactMatch Orphanet:1454 semapv:UnspecifiedMatching OMIM:619113 coach syndrome 3 skos:exactMatch UMLS:C5436841 semapv:UnspecifiedMatching -OMIM:619113 coach syndrome 3 skos:exactMatch orphanet.ordo:1454 semapv:UnspecifiedMatching OMIM:619114 SMYD5 skos:exactMatch UMLS:C1424131 semapv:UnspecifiedMatching -OMIM:619114 SMYD5 skos:exactMatch hgnc:SMYD5 semapv:UnspecifiedMatching +OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:16258 semapv:UnspecifiedMatching +OMIM:619114 SMYD5 skos:exactMatch hgnc.symbol:SMYD5 semapv:UnspecifiedMatching OMIM:619114 SMYD5 skos:exactMatch ncbigene:10322 semapv:UnspecifiedMatching OMIM:619115 combined osteogenesis imperfecta and ehlers-danlos syndrome 1 skos:exactMatch UMLS:C5436842 semapv:UnspecifiedMatching OMIM:619116 SLC39A9 skos:exactMatch UMLS:C1426756 semapv:UnspecifiedMatching -OMIM:619116 SLC39A9 skos:exactMatch hgnc:SLC39A9 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:20182 semapv:UnspecifiedMatching +OMIM:619116 SLC39A9 skos:exactMatch hgnc.symbol:SLC39A9 semapv:UnspecifiedMatching OMIM:619116 SLC39A9 skos:exactMatch ncbigene:55334 semapv:UnspecifiedMatching OMIM:619117 ARL16 skos:exactMatch UMLS:C1824216 semapv:UnspecifiedMatching -OMIM:619117 ARL16 skos:exactMatch hgnc:ARL16 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:27902 semapv:UnspecifiedMatching +OMIM:619117 ARL16 skos:exactMatch hgnc.symbol:ARL16 semapv:UnspecifiedMatching OMIM:619117 ARL16 skos:exactMatch ncbigene:339231 semapv:UnspecifiedMatching OMIM:619118 ATP13A1 skos:exactMatch UMLS:C1540214 semapv:UnspecifiedMatching -OMIM:619118 ATP13A1 skos:exactMatch hgnc:ATP13A1 semapv:UnspecifiedMatching +OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:24215 semapv:UnspecifiedMatching +OMIM:619118 ATP13A1 skos:exactMatch hgnc.symbol:ATP13A1 semapv:UnspecifiedMatching OMIM:619118 ATP13A1 skos:exactMatch ncbigene:57130 semapv:UnspecifiedMatching OMIM:619119 ATP13A5 skos:exactMatch UMLS:C1540218 semapv:UnspecifiedMatching -OMIM:619119 ATP13A5 skos:exactMatch hgnc:ATP13A5 semapv:UnspecifiedMatching +OMIM:619119 ATP13A5 skos:exactMatch hgnc.symbol:31789 semapv:UnspecifiedMatching +OMIM:619119 ATP13A5 skos:exactMatch hgnc.symbol:ATP13A5 semapv:UnspecifiedMatching OMIM:619119 ATP13A5 skos:exactMatch ncbigene:344905 semapv:UnspecifiedMatching OMIM:619120 combined osteogenesis imperfecta and ehlers-danlos syndrome 2 skos:exactMatch UMLS:C5436847 semapv:UnspecifiedMatching OMIM:619121 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch UMLS:C5436848 semapv:UnspecifiedMatching OMIM:619122 vertebral hypersegmentation and orofacial anomalies skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching OMIM:619123 cardiofacioneurodevelopmental syndrome skos:exactMatch UMLS:C5436852 semapv:UnspecifiedMatching +OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch UMLS:C5436853 semapv:UnspecifiedMatching -OMIM:619124 developmental and epileptic encephalopathy 89 skos:exactMatch orphanet.ordo:442835 semapv:UnspecifiedMatching OMIM:619125 kaya-barakat-masson syndrome skos:exactMatch UMLS:C5436856 semapv:UnspecifiedMatching OMIM:619126 immunodeficiency 75 with lymphoproliferation skos:exactMatch UMLS:C5436860 semapv:UnspecifiedMatching OMIM:619127 mandibuloacral dysplasia progeroid syndrome skos:exactMatch UMLS:C5436867 semapv:UnspecifiedMatching OMIM:619128 HYI skos:exactMatch UMLS:C1825556 semapv:UnspecifiedMatching -OMIM:619128 HYI skos:exactMatch hgnc:HYI semapv:UnspecifiedMatching +OMIM:619128 HYI skos:exactMatch hgnc.symbol:26948 semapv:UnspecifiedMatching +OMIM:619128 HYI skos:exactMatch hgnc.symbol:HYI semapv:UnspecifiedMatching OMIM:619128 HYI skos:exactMatch ncbigene:81888 semapv:UnspecifiedMatching OMIM:619129 CFAP58 skos:exactMatch UMLS:C1428618 semapv:UnspecifiedMatching OMIM:619129 CFAP58 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching -OMIM:619129 CFAP58 skos:exactMatch hgnc:CFAP58 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:26676 semapv:UnspecifiedMatching +OMIM:619129 CFAP58 skos:exactMatch hgnc.symbol:CFAP58 semapv:UnspecifiedMatching OMIM:619129 CFAP58 skos:exactMatch ncbigene:159686 semapv:UnspecifiedMatching +OMIM:619130 thrombocytopenia 7 skos:exactMatch Orphanet:466806 semapv:UnspecifiedMatching OMIM:619130 thrombocytopenia 7 skos:exactMatch UMLS:C5436874 semapv:UnspecifiedMatching -OMIM:619130 thrombocytopenia 7 skos:exactMatch orphanet.ordo:466806 semapv:UnspecifiedMatching +OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch Orphanet:666 semapv:UnspecifiedMatching OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch UMLS:C5436875 semapv:UnspecifiedMatching -OMIM:619131 osteogenesis imperfecta, iia 21 skos:exactMatch orphanet.ordo:666 semapv:UnspecifiedMatching OMIM:619134 SMYD4 skos:exactMatch UMLS:C1427288 semapv:UnspecifiedMatching -OMIM:619134 SMYD4 skos:exactMatch hgnc:SMYD4 semapv:UnspecifiedMatching +OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:21067 semapv:UnspecifiedMatching +OMIM:619134 SMYD4 skos:exactMatch hgnc.symbol:SMYD4 semapv:UnspecifiedMatching OMIM:619134 SMYD4 skos:exactMatch ncbigene:114826 semapv:UnspecifiedMatching +OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch UMLS:C5436883 semapv:UnspecifiedMatching -OMIM:619135 ritscher-schinzel syndrome 3 skos:exactMatch orphanet.ordo:7 semapv:UnspecifiedMatching OMIM:619136 SLC37A2 skos:exactMatch UMLS:C1427053 semapv:UnspecifiedMatching -OMIM:619136 SLC37A2 skos:exactMatch hgnc:SLC37A2 semapv:UnspecifiedMatching +OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:20644 semapv:UnspecifiedMatching +OMIM:619136 SLC37A2 skos:exactMatch hgnc.symbol:SLC37A2 semapv:UnspecifiedMatching OMIM:619136 SLC37A2 skos:exactMatch ncbigene:219855 semapv:UnspecifiedMatching OMIM:619137 SLC37A3 skos:exactMatch UMLS:C1427059 semapv:UnspecifiedMatching -OMIM:619137 SLC37A3 skos:exactMatch hgnc:SLC37A3 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:20651 semapv:UnspecifiedMatching +OMIM:619137 SLC37A3 skos:exactMatch hgnc.symbol:SLC37A3 semapv:UnspecifiedMatching OMIM:619137 SLC37A3 skos:exactMatch ncbigene:84255 semapv:UnspecifiedMatching OMIM:619138 N4BP1 skos:exactMatch UMLS:C2239766 semapv:UnspecifiedMatching -OMIM:619138 N4BP1 skos:exactMatch hgnc:N4BP1 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:29850 semapv:UnspecifiedMatching +OMIM:619138 N4BP1 skos:exactMatch hgnc.symbol:N4BP1 semapv:UnspecifiedMatching OMIM:619138 N4BP1 skos:exactMatch ncbigene:9683 semapv:UnspecifiedMatching OMIM:619139 N4BP2 skos:exactMatch UMLS:C2239767 semapv:UnspecifiedMatching -OMIM:619139 N4BP2 skos:exactMatch hgnc:N4BP2 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:29851 semapv:UnspecifiedMatching +OMIM:619139 N4BP2 skos:exactMatch hgnc.symbol:N4BP2 semapv:UnspecifiedMatching OMIM:619139 N4BP2 skos:exactMatch ncbigene:55728 semapv:UnspecifiedMatching OMIM:619140 N4BP3 skos:exactMatch UMLS:C3148457 semapv:UnspecifiedMatching -OMIM:619140 N4BP3 skos:exactMatch hgnc:N4BP3 semapv:UnspecifiedMatching +OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:29852 semapv:UnspecifiedMatching +OMIM:619140 N4BP3 skos:exactMatch hgnc.symbol:N4BP3 semapv:UnspecifiedMatching OMIM:619140 N4BP3 skos:exactMatch ncbigene:23138 semapv:UnspecifiedMatching OMIM:619142 cardioacrofacial dysplasia 1 skos:exactMatch UMLS:C5436885 semapv:UnspecifiedMatching OMIM:619143 cardioacrofacial dysplasia 2 skos:exactMatch UMLS:C5436886 semapv:UnspecifiedMatching +OMIM:619144 spermatogenic failure 49 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619144 spermatogenic failure 49 skos:exactMatch UMLS:C5436887 semapv:UnspecifiedMatching -OMIM:619144 spermatogenic failure 49 skos:exactMatch orphanet.ordo:399808 semapv:UnspecifiedMatching +OMIM:619145 spermatogenic failure 50 skos:exactMatch Orphanet:399808 semapv:UnspecifiedMatching OMIM:619145 spermatogenic failure 50 skos:exactMatch UMLS:C5436888 semapv:UnspecifiedMatching -OMIM:619145 spermatogenic failure 50 skos:exactMatch orphanet.ordo:399808 semapv:UnspecifiedMatching OMIM:619146 premature ovarian failure 17 skos:exactMatch UMLS:C5436889 semapv:UnspecifiedMatching -OMIM:619152 TBC1D2B skos:exactMatch hgnc:TBC1D2B semapv:UnspecifiedMatching +OMIM:619152 TBC1D2B skos:exactMatch hgnc.symbol:29183 semapv:UnspecifiedMatching +OMIM:619152 TBC1D2B skos:exactMatch hgnc.symbol:TBC1D2B semapv:UnspecifiedMatching OMIM:619152 TBC1D2B skos:exactMatch ncbigene:23102 semapv:UnspecifiedMatching -OMIM:619153 SLC25A51 skos:exactMatch hgnc:SLC25A51 semapv:UnspecifiedMatching +OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:23323 semapv:UnspecifiedMatching +OMIM:619153 SLC25A51 skos:exactMatch hgnc.symbol:SLC25A51 semapv:UnspecifiedMatching OMIM:619153 SLC25A51 skos:exactMatch ncbigene:92014 semapv:UnspecifiedMatching -OMIM:619154 LRRC47 skos:exactMatch hgnc:LRRC47 semapv:UnspecifiedMatching +OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:29207 semapv:UnspecifiedMatching +OMIM:619154 LRRC47 skos:exactMatch hgnc.symbol:LRRC47 semapv:UnspecifiedMatching OMIM:619154 LRRC47 skos:exactMatch ncbigene:57470 semapv:UnspecifiedMatching -OMIM:619156 DNAI4 skos:exactMatch hgnc:DNAI4 semapv:UnspecifiedMatching +OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:26252 semapv:UnspecifiedMatching +OMIM:619156 DNAI4 skos:exactMatch hgnc.symbol:DNAI4 semapv:UnspecifiedMatching OMIM:619156 DNAI4 skos:exactMatch ncbigene:79819 semapv:UnspecifiedMatching -OMIM:619158 PIK3IP1 skos:exactMatch hgnc:PIK3IP1 semapv:UnspecifiedMatching +OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:24942 semapv:UnspecifiedMatching +OMIM:619158 PIK3IP1 skos:exactMatch hgnc.symbol:PIK3IP1 semapv:UnspecifiedMatching OMIM:619158 PIK3IP1 skos:exactMatch ncbigene:113791 semapv:UnspecifiedMatching -OMIM:619159 CEACAM4 skos:exactMatch hgnc:CEACAM4 semapv:UnspecifiedMatching +OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:1816 semapv:UnspecifiedMatching +OMIM:619159 CEACAM4 skos:exactMatch hgnc.symbol:CEACAM4 semapv:UnspecifiedMatching OMIM:619159 CEACAM4 skos:exactMatch ncbigene:1089 semapv:UnspecifiedMatching -OMIM:619160 CEACAM7 skos:exactMatch hgnc:CEACAM7 semapv:UnspecifiedMatching +OMIM:619160 CEACAM7 skos:exactMatch hgnc.symbol:1819 semapv:UnspecifiedMatching +OMIM:619160 CEACAM7 skos:exactMatch hgnc.symbol:CEACAM7 semapv:UnspecifiedMatching OMIM:619160 CEACAM7 skos:exactMatch ncbigene:1087 semapv:UnspecifiedMatching -OMIM:619162 FOXJ2 skos:exactMatch hgnc:FOXJ2 semapv:UnspecifiedMatching +OMIM:619162 FOXJ2 skos:exactMatch hgnc.symbol:24818 semapv:UnspecifiedMatching +OMIM:619162 FOXJ2 skos:exactMatch hgnc.symbol:FOXJ2 semapv:UnspecifiedMatching OMIM:619162 FOXJ2 skos:exactMatch ncbigene:55810 semapv:UnspecifiedMatching -OMIM:619163 RNF130 skos:exactMatch hgnc:RNF130 semapv:UnspecifiedMatching +OMIM:619163 RNF130 skos:exactMatch hgnc.symbol:18280 semapv:UnspecifiedMatching +OMIM:619163 RNF130 skos:exactMatch hgnc.symbol:RNF130 semapv:UnspecifiedMatching OMIM:619163 RNF130 skos:exactMatch ncbigene:55819 semapv:UnspecifiedMatching -OMIM:619168 TMEM109 skos:exactMatch hgnc:TMEM109 semapv:UnspecifiedMatching +OMIM:619168 TMEM109 skos:exactMatch hgnc.symbol:28771 semapv:UnspecifiedMatching +OMIM:619168 TMEM109 skos:exactMatch hgnc.symbol:TMEM109 semapv:UnspecifiedMatching OMIM:619168 TMEM109 skos:exactMatch ncbigene:79073 semapv:UnspecifiedMatching -OMIM:619169 GTPBP4 skos:exactMatch hgnc:GTPBP4 semapv:UnspecifiedMatching +OMIM:619169 GTPBP4 skos:exactMatch hgnc.symbol:21535 semapv:UnspecifiedMatching +OMIM:619169 GTPBP4 skos:exactMatch hgnc.symbol:GTPBP4 semapv:UnspecifiedMatching OMIM:619169 GTPBP4 skos:exactMatch ncbigene:23560 semapv:UnspecifiedMatching -OMIM:619171 GUCD1 skos:exactMatch hgnc:GUCD1 semapv:UnspecifiedMatching +OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:14237 semapv:UnspecifiedMatching +OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:GUCD1 semapv:UnspecifiedMatching OMIM:619171 GUCD1 skos:exactMatch ncbigene:83606 semapv:UnspecifiedMatching -OMIM:619181 FAM177A1 skos:exactMatch hgnc:FAM177A1 semapv:UnspecifiedMatching +OMIM:619181 FAM177A1 skos:exactMatch hgnc.symbol:19829 semapv:UnspecifiedMatching +OMIM:619181 FAM177A1 skos:exactMatch hgnc.symbol:FAM177A1 semapv:UnspecifiedMatching OMIM:619181 FAM177A1 skos:exactMatch ncbigene:283635 semapv:UnspecifiedMatching -OMIM:619186 PLEKHM3 skos:exactMatch hgnc:PLEKHM3 semapv:UnspecifiedMatching +OMIM:619186 PLEKHM3 skos:exactMatch hgnc.symbol:34006 semapv:UnspecifiedMatching +OMIM:619186 PLEKHM3 skos:exactMatch hgnc.symbol:PLEKHM3 semapv:UnspecifiedMatching OMIM:619186 PLEKHM3 skos:exactMatch ncbigene:389072 semapv:UnspecifiedMatching -OMIM:619187 GRIFIN skos:exactMatch hgnc:GRIFIN semapv:UnspecifiedMatching +OMIM:619187 GRIFIN skos:exactMatch hgnc.symbol:4577 semapv:UnspecifiedMatching +OMIM:619187 GRIFIN skos:exactMatch hgnc.symbol:GRIFIN semapv:UnspecifiedMatching OMIM:619187 GRIFIN skos:exactMatch ncbigene:402635 semapv:UnspecifiedMatching -OMIM:619190 IHO1 skos:exactMatch hgnc:IHO1 semapv:UnspecifiedMatching +OMIM:619190 IHO1 skos:exactMatch hgnc.symbol:27945 semapv:UnspecifiedMatching +OMIM:619190 IHO1 skos:exactMatch hgnc.symbol:IHO1 semapv:UnspecifiedMatching OMIM:619190 IHO1 skos:exactMatch ncbigene:339834 semapv:UnspecifiedMatching -OMIM:619192 SLC7A6OS skos:exactMatch hgnc:SLC7A6OS semapv:UnspecifiedMatching +OMIM:619192 SLC7A6OS skos:exactMatch hgnc.symbol:25807 semapv:UnspecifiedMatching +OMIM:619192 SLC7A6OS skos:exactMatch hgnc.symbol:SLC7A6OS semapv:UnspecifiedMatching OMIM:619192 SLC7A6OS skos:exactMatch ncbigene:84138 semapv:UnspecifiedMatching -OMIM:619193 TTLL8 skos:exactMatch hgnc:TTLL8 semapv:UnspecifiedMatching +OMIM:619193 TTLL8 skos:exactMatch hgnc.symbol:34000 semapv:UnspecifiedMatching +OMIM:619193 TTLL8 skos:exactMatch hgnc.symbol:TTLL8 semapv:UnspecifiedMatching OMIM:619193 TTLL8 skos:exactMatch ncbigene:164714 semapv:UnspecifiedMatching -OMIM:619195 TTLL3 skos:exactMatch hgnc:TTLL3 semapv:UnspecifiedMatching +OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:24483 semapv:UnspecifiedMatching +OMIM:619195 TTLL3 skos:exactMatch hgnc.symbol:TTLL3 semapv:UnspecifiedMatching OMIM:619195 TTLL3 skos:exactMatch ncbigene:26140 semapv:UnspecifiedMatching -OMIM:619197 EIF3L skos:exactMatch hgnc:EIF3L semapv:UnspecifiedMatching +OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:18138 semapv:UnspecifiedMatching +OMIM:619197 EIF3L skos:exactMatch hgnc.symbol:EIF3L semapv:UnspecifiedMatching OMIM:619197 EIF3L skos:exactMatch ncbigene:51386 semapv:UnspecifiedMatching -OMIM:619198 SDHAF4 skos:exactMatch hgnc:SDHAF4 semapv:UnspecifiedMatching +OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:20957 semapv:UnspecifiedMatching +OMIM:619198 SDHAF4 skos:exactMatch hgnc.symbol:SDHAF4 semapv:UnspecifiedMatching OMIM:619198 SDHAF4 skos:exactMatch ncbigene:135154 semapv:UnspecifiedMatching -OMIM:619200 SNX21 skos:exactMatch hgnc:SNX21 semapv:UnspecifiedMatching +OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:16154 semapv:UnspecifiedMatching +OMIM:619200 SNX21 skos:exactMatch hgnc.symbol:SNX21 semapv:UnspecifiedMatching OMIM:619200 SNX21 skos:exactMatch ncbigene:90203 semapv:UnspecifiedMatching -OMIM:619204 NIP7 skos:exactMatch hgnc:NIP7 semapv:UnspecifiedMatching +OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:24328 semapv:UnspecifiedMatching +OMIM:619204 NIP7 skos:exactMatch hgnc.symbol:NIP7 semapv:UnspecifiedMatching OMIM:619204 NIP7 skos:exactMatch ncbigene:51388 semapv:UnspecifiedMatching -OMIM:619205 GHITM skos:exactMatch hgnc:GHITM semapv:UnspecifiedMatching +OMIM:619205 GHITM skos:exactMatch hgnc.symbol:17281 semapv:UnspecifiedMatching +OMIM:619205 GHITM skos:exactMatch hgnc.symbol:GHITM semapv:UnspecifiedMatching OMIM:619205 GHITM skos:exactMatch ncbigene:27069 semapv:UnspecifiedMatching -OMIM:619206 SCHIP1 skos:exactMatch hgnc:SCHIP1 semapv:UnspecifiedMatching +OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:15678 semapv:UnspecifiedMatching +OMIM:619206 SCHIP1 skos:exactMatch hgnc.symbol:SCHIP1 semapv:UnspecifiedMatching OMIM:619206 SCHIP1 skos:exactMatch ncbigene:29970 semapv:UnspecifiedMatching -OMIM:619207 INO80D skos:exactMatch hgnc:INO80D semapv:UnspecifiedMatching +OMIM:619207 INO80D skos:exactMatch hgnc.symbol:25997 semapv:UnspecifiedMatching +OMIM:619207 INO80D skos:exactMatch hgnc.symbol:INO80D semapv:UnspecifiedMatching OMIM:619207 INO80D skos:exactMatch ncbigene:54891 semapv:UnspecifiedMatching -OMIM:619210 HS3ST6 skos:exactMatch hgnc:HS3ST6 semapv:UnspecifiedMatching +OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:14178 semapv:UnspecifiedMatching +OMIM:619210 HS3ST6 skos:exactMatch hgnc.symbol:HS3ST6 semapv:UnspecifiedMatching OMIM:619210 HS3ST6 skos:exactMatch ncbigene:64711 semapv:UnspecifiedMatching -OMIM:619211 HPCAL4 skos:exactMatch hgnc:HPCAL4 semapv:UnspecifiedMatching +OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:18212 semapv:UnspecifiedMatching +OMIM:619211 HPCAL4 skos:exactMatch hgnc.symbol:HPCAL4 semapv:UnspecifiedMatching OMIM:619211 HPCAL4 skos:exactMatch ncbigene:51440 semapv:UnspecifiedMatching -OMIM:619212 IRAIN skos:exactMatch hgnc:IRAIN semapv:UnspecifiedMatching +OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:50365 semapv:UnspecifiedMatching +OMIM:619212 IRAIN skos:exactMatch hgnc.symbol:IRAIN semapv:UnspecifiedMatching OMIM:619212 IRAIN skos:exactMatch ncbigene:104472848 semapv:UnspecifiedMatching -OMIM:619213 ZSWIM8 skos:exactMatch hgnc:ZSWIM8 semapv:UnspecifiedMatching +OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:23528 semapv:UnspecifiedMatching +OMIM:619213 ZSWIM8 skos:exactMatch hgnc.symbol:ZSWIM8 semapv:UnspecifiedMatching OMIM:619213 ZSWIM8 skos:exactMatch ncbigene:23053 semapv:UnspecifiedMatching -OMIM:619214 ZNF639 skos:exactMatch hgnc:ZNF639 semapv:UnspecifiedMatching +OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:30950 semapv:UnspecifiedMatching +OMIM:619214 ZNF639 skos:exactMatch hgnc.symbol:ZNF639 semapv:UnspecifiedMatching OMIM:619214 ZNF639 skos:exactMatch ncbigene:51193 semapv:UnspecifiedMatching -OMIM:619219 C2ORF69 skos:exactMatch hgnc:C2orf69 semapv:UnspecifiedMatching +OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:26799 semapv:UnspecifiedMatching +OMIM:619219 C2ORF69 skos:exactMatch hgnc.symbol:C2orf69 semapv:UnspecifiedMatching OMIM:619219 C2ORF69 skos:exactMatch ncbigene:205327 semapv:UnspecifiedMatching -OMIM:619222 SCAI skos:exactMatch hgnc:SCAI semapv:UnspecifiedMatching +OMIM:619222 SCAI skos:exactMatch hgnc.symbol:26709 semapv:UnspecifiedMatching +OMIM:619222 SCAI skos:exactMatch hgnc.symbol:SCAI semapv:UnspecifiedMatching OMIM:619222 SCAI skos:exactMatch ncbigene:286205 semapv:UnspecifiedMatching -OMIM:619225 RPL13A skos:exactMatch hgnc:RPL13A semapv:UnspecifiedMatching +OMIM:619225 RPL13A skos:exactMatch hgnc.symbol:10304 semapv:UnspecifiedMatching +OMIM:619225 RPL13A skos:exactMatch hgnc.symbol:RPL13A semapv:UnspecifiedMatching OMIM:619225 RPL13A skos:exactMatch ncbigene:23521 semapv:UnspecifiedMatching -OMIM:619230 SAP25 skos:exactMatch hgnc:SAP25 semapv:UnspecifiedMatching +OMIM:619230 SAP25 skos:exactMatch hgnc.symbol:41908 semapv:UnspecifiedMatching +OMIM:619230 SAP25 skos:exactMatch hgnc.symbol:SAP25 semapv:UnspecifiedMatching OMIM:619230 SAP25 skos:exactMatch ncbigene:100316904 semapv:UnspecifiedMatching -OMIM:619231 SAMD4B skos:exactMatch hgnc:SAMD4B semapv:UnspecifiedMatching +OMIM:619231 SAMD4B skos:exactMatch hgnc.symbol:25492 semapv:UnspecifiedMatching +OMIM:619231 SAMD4B skos:exactMatch hgnc.symbol:SAMD4B semapv:UnspecifiedMatching OMIM:619231 SAMD4B skos:exactMatch ncbigene:55095 semapv:UnspecifiedMatching -OMIM:619233 SAMD14 skos:exactMatch hgnc:SAMD14 semapv:UnspecifiedMatching +OMIM:619233 SAMD14 skos:exactMatch hgnc.symbol:27312 semapv:UnspecifiedMatching +OMIM:619233 SAMD14 skos:exactMatch hgnc.symbol:SAMD14 semapv:UnspecifiedMatching OMIM:619233 SAMD14 skos:exactMatch ncbigene:201191 semapv:UnspecifiedMatching -OMIM:619235 RPP25 skos:exactMatch hgnc:RPP25 semapv:UnspecifiedMatching +OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:30361 semapv:UnspecifiedMatching +OMIM:619235 RPP25 skos:exactMatch hgnc.symbol:RPP25 semapv:UnspecifiedMatching OMIM:619235 RPP25 skos:exactMatch ncbigene:54913 semapv:UnspecifiedMatching -OMIM:619236 KIAA0408 skos:exactMatch hgnc:KIAA0408 semapv:UnspecifiedMatching +OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:21636 semapv:UnspecifiedMatching +OMIM:619236 KIAA0408 skos:exactMatch hgnc.symbol:KIAA0408 semapv:UnspecifiedMatching OMIM:619236 KIAA0408 skos:exactMatch ncbigene:9729 semapv:UnspecifiedMatching -OMIM:619237 KIAA0232 skos:exactMatch hgnc:KIAA0232 semapv:UnspecifiedMatching +OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:28992 semapv:UnspecifiedMatching +OMIM:619237 KIAA0232 skos:exactMatch hgnc.symbol:KIAA0232 semapv:UnspecifiedMatching OMIM:619237 KIAA0232 skos:exactMatch ncbigene:9778 semapv:UnspecifiedMatching -OMIM:619240 GDPGP1 skos:exactMatch hgnc:GDPGP1 semapv:UnspecifiedMatching +OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:34360 semapv:UnspecifiedMatching +OMIM:619240 GDPGP1 skos:exactMatch hgnc.symbol:GDPGP1 semapv:UnspecifiedMatching OMIM:619240 GDPGP1 skos:exactMatch ncbigene:390637 semapv:UnspecifiedMatching -OMIM:619241 JPT2 skos:exactMatch hgnc:JPT2 semapv:UnspecifiedMatching +OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:14137 semapv:UnspecifiedMatching +OMIM:619241 JPT2 skos:exactMatch hgnc.symbol:JPT2 semapv:UnspecifiedMatching OMIM:619241 JPT2 skos:exactMatch ncbigene:90861 semapv:UnspecifiedMatching -OMIM:619242 JPT1 skos:exactMatch hgnc:JPT1 semapv:UnspecifiedMatching +OMIM:619242 JPT1 skos:exactMatch hgnc.symbol:14569 semapv:UnspecifiedMatching +OMIM:619242 JPT1 skos:exactMatch hgnc.symbol:JPT1 semapv:UnspecifiedMatching OMIM:619242 JPT1 skos:exactMatch ncbigene:51155 semapv:UnspecifiedMatching -OMIM:619246 SPX skos:exactMatch hgnc:SPX semapv:UnspecifiedMatching +OMIM:619246 SPX skos:exactMatch hgnc.symbol:28139 semapv:UnspecifiedMatching +OMIM:619246 SPX skos:exactMatch hgnc.symbol:SPX semapv:UnspecifiedMatching OMIM:619246 SPX skos:exactMatch ncbigene:80763 semapv:UnspecifiedMatching -OMIM:619247 SKA3 skos:exactMatch hgnc:SKA3 semapv:UnspecifiedMatching +OMIM:619247 SKA3 skos:exactMatch hgnc.symbol:20262 semapv:UnspecifiedMatching +OMIM:619247 SKA3 skos:exactMatch hgnc.symbol:SKA3 semapv:UnspecifiedMatching OMIM:619247 SKA3 skos:exactMatch ncbigene:221150 semapv:UnspecifiedMatching -OMIM:619249 CCDC186 skos:exactMatch hgnc:CCDC186 semapv:UnspecifiedMatching +OMIM:619249 CCDC186 skos:exactMatch hgnc.symbol:24349 semapv:UnspecifiedMatching +OMIM:619249 CCDC186 skos:exactMatch hgnc.symbol:CCDC186 semapv:UnspecifiedMatching OMIM:619249 CCDC186 skos:exactMatch ncbigene:55088 semapv:UnspecifiedMatching -OMIM:619250 RUNDC1 skos:exactMatch hgnc:RUNDC1 semapv:UnspecifiedMatching +OMIM:619250 RUNDC1 skos:exactMatch hgnc.symbol:25418 semapv:UnspecifiedMatching +OMIM:619250 RUNDC1 skos:exactMatch hgnc.symbol:RUNDC1 semapv:UnspecifiedMatching OMIM:619250 RUNDC1 skos:exactMatch ncbigene:146923 semapv:UnspecifiedMatching -OMIM:619251 ACTL9 skos:exactMatch hgnc:ACTL9 semapv:UnspecifiedMatching +OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:28494 semapv:UnspecifiedMatching +OMIM:619251 ACTL9 skos:exactMatch hgnc.symbol:ACTL9 semapv:UnspecifiedMatching OMIM:619251 ACTL9 skos:exactMatch ncbigene:284382 semapv:UnspecifiedMatching -OMIM:619252 BZW1 skos:exactMatch hgnc:BZW1 semapv:UnspecifiedMatching +OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:18380 semapv:UnspecifiedMatching +OMIM:619252 BZW1 skos:exactMatch hgnc.symbol:BZW1 semapv:UnspecifiedMatching OMIM:619252 BZW1 skos:exactMatch ncbigene:9689 semapv:UnspecifiedMatching -OMIM:619253 WSCD2 skos:exactMatch hgnc:WSCD2 semapv:UnspecifiedMatching +OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:29117 semapv:UnspecifiedMatching +OMIM:619253 WSCD2 skos:exactMatch hgnc.symbol:WSCD2 semapv:UnspecifiedMatching OMIM:619253 WSCD2 skos:exactMatch ncbigene:9671 semapv:UnspecifiedMatching -OMIM:619254 ZNF17 skos:exactMatch hgnc:ZNF17 semapv:UnspecifiedMatching +OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:12958 semapv:UnspecifiedMatching +OMIM:619254 ZNF17 skos:exactMatch hgnc.symbol:ZNF17 semapv:UnspecifiedMatching OMIM:619254 ZNF17 skos:exactMatch ncbigene:7565 semapv:UnspecifiedMatching -OMIM:619257 HRURF skos:exactMatch hgnc:HRURF semapv:UnspecifiedMatching +OMIM:619257 HRURF skos:exactMatch hgnc.symbol:55085 semapv:UnspecifiedMatching +OMIM:619257 HRURF skos:exactMatch hgnc.symbol:HRURF semapv:UnspecifiedMatching OMIM:619257 HRURF skos:exactMatch ncbigene:120766137 semapv:UnspecifiedMatching -OMIM:619261 KRTCAP3 skos:exactMatch hgnc:KRTCAP3 semapv:UnspecifiedMatching +OMIM:619261 KRTCAP3 skos:exactMatch hgnc.symbol:28943 semapv:UnspecifiedMatching +OMIM:619261 KRTCAP3 skos:exactMatch hgnc.symbol:KRTCAP3 semapv:UnspecifiedMatching OMIM:619261 KRTCAP3 skos:exactMatch ncbigene:200634 semapv:UnspecifiedMatching -OMIM:619262 KLHL17 skos:exactMatch hgnc:KLHL17 semapv:UnspecifiedMatching +OMIM:619262 KLHL17 skos:exactMatch hgnc.symbol:24023 semapv:UnspecifiedMatching +OMIM:619262 KLHL17 skos:exactMatch hgnc.symbol:KLHL17 semapv:UnspecifiedMatching OMIM:619262 KLHL17 skos:exactMatch ncbigene:339451 semapv:UnspecifiedMatching -OMIM:619265 TRIM52 skos:exactMatch hgnc:TRIM52 semapv:UnspecifiedMatching +OMIM:619265 TRIM52 skos:exactMatch hgnc.symbol:19024 semapv:UnspecifiedMatching +OMIM:619265 TRIM52 skos:exactMatch hgnc.symbol:TRIM52 semapv:UnspecifiedMatching OMIM:619265 TRIM52 skos:exactMatch ncbigene:84851 semapv:UnspecifiedMatching -OMIM:619266 TRIM52AS1 skos:exactMatch hgnc:TRIM52-AS1 semapv:UnspecifiedMatching +OMIM:619266 TRIM52AS1 skos:exactMatch hgnc.symbol:49006 semapv:UnspecifiedMatching +OMIM:619266 TRIM52AS1 skos:exactMatch hgnc.symbol:TRIM52-AS1 semapv:UnspecifiedMatching OMIM:619266 TRIM52AS1 skos:exactMatch ncbigene:100507602 semapv:UnspecifiedMatching -OMIM:619270 IFTAP skos:exactMatch hgnc:IFTAP semapv:UnspecifiedMatching +OMIM:619270 IFTAP skos:exactMatch hgnc.symbol:25142 semapv:UnspecifiedMatching +OMIM:619270 IFTAP skos:exactMatch hgnc.symbol:IFTAP semapv:UnspecifiedMatching OMIM:619270 IFTAP skos:exactMatch ncbigene:119710 semapv:UnspecifiedMatching -OMIM:619275 BZW2 skos:exactMatch hgnc:BZW2 semapv:UnspecifiedMatching +OMIM:619275 BZW2 skos:exactMatch hgnc.symbol:18808 semapv:UnspecifiedMatching +OMIM:619275 BZW2 skos:exactMatch hgnc.symbol:BZW2 semapv:UnspecifiedMatching OMIM:619275 BZW2 skos:exactMatch ncbigene:28969 semapv:UnspecifiedMatching -OMIM:619276 BRME1 skos:exactMatch hgnc:BRME1 semapv:UnspecifiedMatching +OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:28153 semapv:UnspecifiedMatching +OMIM:619276 BRME1 skos:exactMatch hgnc.symbol:BRME1 semapv:UnspecifiedMatching OMIM:619276 BRME1 skos:exactMatch ncbigene:79173 semapv:UnspecifiedMatching -OMIM:619277 CIMIP1 skos:exactMatch hgnc:CIMIP1 semapv:UnspecifiedMatching +OMIM:619277 CIMIP1 skos:exactMatch hgnc.symbol:CIMIP1 semapv:UnspecifiedMatching OMIM:619277 CIMIP1 skos:exactMatch ncbigene:128602 semapv:UnspecifiedMatching -OMIM:619280 CCDC59 skos:exactMatch hgnc:CCDC59 semapv:UnspecifiedMatching +OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:25005 semapv:UnspecifiedMatching +OMIM:619280 CCDC59 skos:exactMatch hgnc.symbol:CCDC59 semapv:UnspecifiedMatching OMIM:619280 CCDC59 skos:exactMatch ncbigene:29080 semapv:UnspecifiedMatching -OMIM:619282 FAM131B skos:exactMatch hgnc:FAM131B semapv:UnspecifiedMatching +OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:22202 semapv:UnspecifiedMatching +OMIM:619282 FAM131B skos:exactMatch hgnc.symbol:FAM131B semapv:UnspecifiedMatching OMIM:619282 FAM131B skos:exactMatch ncbigene:9715 semapv:UnspecifiedMatching -OMIM:619283 RNF44 skos:exactMatch hgnc:RNF44 semapv:UnspecifiedMatching +OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:19180 semapv:UnspecifiedMatching +OMIM:619283 RNF44 skos:exactMatch hgnc.symbol:RNF44 semapv:UnspecifiedMatching OMIM:619283 RNF44 skos:exactMatch ncbigene:22838 semapv:UnspecifiedMatching -OMIM:619284 ZFR2 skos:exactMatch hgnc:ZFR2 semapv:UnspecifiedMatching +OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:29189 semapv:UnspecifiedMatching +OMIM:619284 ZFR2 skos:exactMatch hgnc.symbol:ZFR2 semapv:UnspecifiedMatching OMIM:619284 ZFR2 skos:exactMatch ncbigene:23217 semapv:UnspecifiedMatching -OMIM:619285 TMEM218 skos:exactMatch hgnc:TMEM218 semapv:UnspecifiedMatching +OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:27344 semapv:UnspecifiedMatching +OMIM:619285 TMEM218 skos:exactMatch hgnc.symbol:TMEM218 semapv:UnspecifiedMatching OMIM:619285 TMEM218 skos:exactMatch ncbigene:219854 semapv:UnspecifiedMatching -OMIM:619287 CCDC66 skos:exactMatch hgnc:CCDC66 semapv:UnspecifiedMatching +OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:27709 semapv:UnspecifiedMatching +OMIM:619287 CCDC66 skos:exactMatch hgnc.symbol:CCDC66 semapv:UnspecifiedMatching OMIM:619287 CCDC66 skos:exactMatch ncbigene:285331 semapv:UnspecifiedMatching -OMIM:619288 CCDC69 skos:exactMatch hgnc:CCDC69 semapv:UnspecifiedMatching +OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:24487 semapv:UnspecifiedMatching +OMIM:619288 CCDC69 skos:exactMatch hgnc.symbol:CCDC69 semapv:UnspecifiedMatching OMIM:619288 CCDC69 skos:exactMatch ncbigene:26112 semapv:UnspecifiedMatching -OMIM:619289 ZFP91 skos:exactMatch hgnc:ZFP91 semapv:UnspecifiedMatching +OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:14983 semapv:UnspecifiedMatching +OMIM:619289 ZFP91 skos:exactMatch hgnc.symbol:ZFP91 semapv:UnspecifiedMatching OMIM:619289 ZFP91 skos:exactMatch ncbigene:80829 semapv:UnspecifiedMatching -OMIM:619292 VPS9D1 skos:exactMatch hgnc:VPS9D1 semapv:UnspecifiedMatching +OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:13526 semapv:UnspecifiedMatching +OMIM:619292 VPS9D1 skos:exactMatch hgnc.symbol:VPS9D1 semapv:UnspecifiedMatching OMIM:619292 VPS9D1 skos:exactMatch ncbigene:9605 semapv:UnspecifiedMatching -OMIM:619294 NIBAN1 skos:exactMatch hgnc:NIBAN1 semapv:UnspecifiedMatching +OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:16784 semapv:UnspecifiedMatching +OMIM:619294 NIBAN1 skos:exactMatch hgnc.symbol:NIBAN1 semapv:UnspecifiedMatching OMIM:619294 NIBAN1 skos:exactMatch ncbigene:116496 semapv:UnspecifiedMatching -OMIM:619295 ZDHHC14 skos:exactMatch hgnc:ZDHHC14 semapv:UnspecifiedMatching +OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:20341 semapv:UnspecifiedMatching +OMIM:619295 ZDHHC14 skos:exactMatch hgnc.symbol:ZDHHC14 semapv:UnspecifiedMatching OMIM:619295 ZDHHC14 skos:exactMatch ncbigene:79683 semapv:UnspecifiedMatching -OMIM:619296 THORLNC skos:exactMatch hgnc:THORLNC semapv:UnspecifiedMatching +OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:53788 semapv:UnspecifiedMatching +OMIM:619296 THORLNC skos:exactMatch hgnc.symbol:THORLNC semapv:UnspecifiedMatching OMIM:619296 THORLNC skos:exactMatch ncbigene:100506797 semapv:UnspecifiedMatching -OMIM:619298 ZNF777 skos:exactMatch hgnc:ZNF777 semapv:UnspecifiedMatching +OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:22213 semapv:UnspecifiedMatching +OMIM:619298 ZNF777 skos:exactMatch hgnc.symbol:ZNF777 semapv:UnspecifiedMatching OMIM:619298 ZNF777 skos:exactMatch ncbigene:27153 semapv:UnspecifiedMatching -OMIM:619299 ZNF646 skos:exactMatch hgnc:ZNF646 semapv:UnspecifiedMatching +OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:29004 semapv:UnspecifiedMatching +OMIM:619299 ZNF646 skos:exactMatch hgnc.symbol:ZNF646 semapv:UnspecifiedMatching OMIM:619299 ZNF646 skos:exactMatch ncbigene:9726 semapv:UnspecifiedMatching -OMIM:619300 ZNF394 skos:exactMatch hgnc:ZNF394 semapv:UnspecifiedMatching +OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:18832 semapv:UnspecifiedMatching +OMIM:619300 ZNF394 skos:exactMatch hgnc.symbol:ZNF394 semapv:UnspecifiedMatching OMIM:619300 ZNF394 skos:exactMatch ncbigene:84124 semapv:UnspecifiedMatching -OMIM:619305 TC2N skos:exactMatch hgnc:TC2N semapv:UnspecifiedMatching +OMIM:619305 TC2N skos:exactMatch hgnc.symbol:19859 semapv:UnspecifiedMatching +OMIM:619305 TC2N skos:exactMatch hgnc.symbol:TC2N semapv:UnspecifiedMatching OMIM:619305 TC2N skos:exactMatch ncbigene:123036 semapv:UnspecifiedMatching -OMIM:619307 MRS2 skos:exactMatch hgnc:MRS2 semapv:UnspecifiedMatching +OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:13785 semapv:UnspecifiedMatching +OMIM:619307 MRS2 skos:exactMatch hgnc.symbol:MRS2 semapv:UnspecifiedMatching OMIM:619307 MRS2 skos:exactMatch ncbigene:57380 semapv:UnspecifiedMatching -OMIM:619308 PPM1E skos:exactMatch hgnc:PPM1E semapv:UnspecifiedMatching +OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:19322 semapv:UnspecifiedMatching +OMIM:619308 PPM1E skos:exactMatch hgnc.symbol:PPM1E semapv:UnspecifiedMatching OMIM:619308 PPM1E skos:exactMatch ncbigene:22843 semapv:UnspecifiedMatching -OMIM:619309 PPM1F skos:exactMatch hgnc:PPM1F semapv:UnspecifiedMatching +OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:19388 semapv:UnspecifiedMatching +OMIM:619309 PPM1F skos:exactMatch hgnc.symbol:PPM1F semapv:UnspecifiedMatching OMIM:619309 PPM1F skos:exactMatch ncbigene:9647 semapv:UnspecifiedMatching -OMIM:619315 SLC35E2B skos:exactMatch hgnc:SLC35E2B semapv:UnspecifiedMatching +OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:33941 semapv:UnspecifiedMatching +OMIM:619315 SLC35E2B skos:exactMatch hgnc.symbol:SLC35E2B semapv:UnspecifiedMatching OMIM:619315 SLC35E2B skos:exactMatch ncbigene:728661 semapv:UnspecifiedMatching -OMIM:619316 TRANK1 skos:exactMatch hgnc:TRANK1 semapv:UnspecifiedMatching +OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:29011 semapv:UnspecifiedMatching +OMIM:619316 TRANK1 skos:exactMatch hgnc.symbol:TRANK1 semapv:UnspecifiedMatching OMIM:619316 TRANK1 skos:exactMatch ncbigene:9881 semapv:UnspecifiedMatching -OMIM:619327 LRRC15 skos:exactMatch hgnc:LRRC15 semapv:UnspecifiedMatching +OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:20818 semapv:UnspecifiedMatching +OMIM:619327 LRRC15 skos:exactMatch hgnc.symbol:LRRC15 semapv:UnspecifiedMatching OMIM:619327 LRRC15 skos:exactMatch ncbigene:131578 semapv:UnspecifiedMatching -OMIM:619330 TATDN2 skos:exactMatch hgnc:TATDN2 semapv:UnspecifiedMatching +OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:28988 semapv:UnspecifiedMatching +OMIM:619330 TATDN2 skos:exactMatch hgnc.symbol:TATDN2 semapv:UnspecifiedMatching OMIM:619330 TATDN2 skos:exactMatch ncbigene:9797 semapv:UnspecifiedMatching -OMIM:619331 MEAK7 skos:exactMatch hgnc:MEAK7 semapv:UnspecifiedMatching +OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:29325 semapv:UnspecifiedMatching +OMIM:619331 MEAK7 skos:exactMatch hgnc.symbol:MEAK7 semapv:UnspecifiedMatching OMIM:619331 MEAK7 skos:exactMatch ncbigene:57707 semapv:UnspecifiedMatching -OMIM:619332 LYSET skos:exactMatch hgnc:LYSET semapv:UnspecifiedMatching +OMIM:619332 LYSET skos:exactMatch hgnc.symbol:LYSET semapv:UnspecifiedMatching OMIM:619332 LYSET skos:exactMatch ncbigene:26175 semapv:UnspecifiedMatching -OMIM:619335 GARRE1 skos:exactMatch hgnc:GARRE1 semapv:UnspecifiedMatching +OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:29016 semapv:UnspecifiedMatching +OMIM:619335 GARRE1 skos:exactMatch hgnc.symbol:GARRE1 semapv:UnspecifiedMatching OMIM:619335 GARRE1 skos:exactMatch ncbigene:9710 semapv:UnspecifiedMatching -OMIM:619336 MTX3 skos:exactMatch hgnc:MTX3 semapv:UnspecifiedMatching +OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:24812 semapv:UnspecifiedMatching +OMIM:619336 MTX3 skos:exactMatch hgnc.symbol:MTX3 semapv:UnspecifiedMatching OMIM:619336 MTX3 skos:exactMatch ncbigene:345778 semapv:UnspecifiedMatching -OMIM:619337 NMS skos:exactMatch hgnc:NMS semapv:UnspecifiedMatching +OMIM:619337 NMS skos:exactMatch hgnc.symbol:32203 semapv:UnspecifiedMatching +OMIM:619337 NMS skos:exactMatch hgnc.symbol:NMS semapv:UnspecifiedMatching OMIM:619337 NMS skos:exactMatch ncbigene:129521 semapv:UnspecifiedMatching -OMIM:619341 PJA2 skos:exactMatch hgnc:PJA2 semapv:UnspecifiedMatching +OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:17481 semapv:UnspecifiedMatching +OMIM:619341 PJA2 skos:exactMatch hgnc.symbol:PJA2 semapv:UnspecifiedMatching OMIM:619341 PJA2 skos:exactMatch ncbigene:9867 semapv:UnspecifiedMatching -OMIM:619342 PGAP6 skos:exactMatch hgnc:PGAP6 semapv:UnspecifiedMatching +OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:17205 semapv:UnspecifiedMatching +OMIM:619342 PGAP6 skos:exactMatch hgnc.symbol:PGAP6 semapv:UnspecifiedMatching OMIM:619342 PGAP6 skos:exactMatch ncbigene:58986 semapv:UnspecifiedMatching -OMIM:619344 PCP2 skos:exactMatch hgnc:PCP2 semapv:UnspecifiedMatching +OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:30209 semapv:UnspecifiedMatching +OMIM:619344 PCP2 skos:exactMatch hgnc.symbol:PCP2 semapv:UnspecifiedMatching OMIM:619344 PCP2 skos:exactMatch ncbigene:126006 semapv:UnspecifiedMatching -OMIM:619346 ADAL skos:exactMatch hgnc:ADAL semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch hgnc.symbol:31853 semapv:UnspecifiedMatching +OMIM:619346 ADAL skos:exactMatch hgnc.symbol:ADAL semapv:UnspecifiedMatching OMIM:619346 ADAL skos:exactMatch ncbigene:161823 semapv:UnspecifiedMatching -OMIM:619347 CCDC96 skos:exactMatch hgnc:CCDC96 semapv:UnspecifiedMatching +OMIM:619347 CCDC96 skos:exactMatch hgnc.symbol:CFAP184 semapv:UnspecifiedMatching OMIM:619347 CCDC96 skos:exactMatch ncbigene:257236 semapv:UnspecifiedMatching -OMIM:619348 ANKLE1 skos:exactMatch hgnc:ANKLE1 semapv:UnspecifiedMatching +OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:26812 semapv:UnspecifiedMatching +OMIM:619348 ANKLE1 skos:exactMatch hgnc.symbol:ANKLE1 semapv:UnspecifiedMatching OMIM:619348 ANKLE1 skos:exactMatch ncbigene:126549 semapv:UnspecifiedMatching -OMIM:619349 COPS9 skos:exactMatch hgnc:COPS9 semapv:UnspecifiedMatching +OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:21314 semapv:UnspecifiedMatching +OMIM:619349 COPS9 skos:exactMatch hgnc.symbol:COPS9 semapv:UnspecifiedMatching OMIM:619349 COPS9 skos:exactMatch ncbigene:150678 semapv:UnspecifiedMatching -OMIM:619353 PARD3B skos:exactMatch hgnc:PARD3B semapv:UnspecifiedMatching +OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:14446 semapv:UnspecifiedMatching +OMIM:619353 PARD3B skos:exactMatch hgnc.symbol:PARD3B semapv:UnspecifiedMatching OMIM:619353 PARD3B skos:exactMatch ncbigene:117583 semapv:UnspecifiedMatching -OMIM:619357 AK6 skos:exactMatch hgnc:AK6 semapv:UnspecifiedMatching +OMIM:619357 AK6 skos:exactMatch hgnc.symbol:49151 semapv:UnspecifiedMatching +OMIM:619357 AK6 skos:exactMatch hgnc.symbol:AK6 semapv:UnspecifiedMatching OMIM:619357 AK6 skos:exactMatch ncbigene:102157402 semapv:UnspecifiedMatching -OMIM:619358 MTUS2 skos:exactMatch hgnc:MTUS2 semapv:UnspecifiedMatching +OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:20595 semapv:UnspecifiedMatching +OMIM:619358 MTUS2 skos:exactMatch hgnc.symbol:MTUS2 semapv:UnspecifiedMatching OMIM:619358 MTUS2 skos:exactMatch ncbigene:23281 semapv:UnspecifiedMatching -OMIM:619359 BRINP2 skos:exactMatch hgnc:BRINP2 semapv:UnspecifiedMatching +OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:13746 semapv:UnspecifiedMatching +OMIM:619359 BRINP2 skos:exactMatch hgnc.symbol:BRINP2 semapv:UnspecifiedMatching OMIM:619359 BRINP2 skos:exactMatch ncbigene:57795 semapv:UnspecifiedMatching -OMIM:619364 TATDN1 skos:exactMatch hgnc:TATDN1 semapv:UnspecifiedMatching +OMIM:619364 TATDN1 skos:exactMatch hgnc.symbol:24220 semapv:UnspecifiedMatching +OMIM:619364 TATDN1 skos:exactMatch hgnc.symbol:TATDN1 semapv:UnspecifiedMatching OMIM:619364 TATDN1 skos:exactMatch ncbigene:83940 semapv:UnspecifiedMatching -OMIM:619368 LRRC14 skos:exactMatch hgnc:LRRC14 semapv:UnspecifiedMatching +OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:20419 semapv:UnspecifiedMatching +OMIM:619368 LRRC14 skos:exactMatch hgnc.symbol:LRRC14 semapv:UnspecifiedMatching OMIM:619368 LRRC14 skos:exactMatch ncbigene:9684 semapv:UnspecifiedMatching -OMIM:619370 KHDC4 skos:exactMatch hgnc:KHDC4 semapv:UnspecifiedMatching +OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:29145 semapv:UnspecifiedMatching +OMIM:619370 KHDC4 skos:exactMatch hgnc.symbol:KHDC4 semapv:UnspecifiedMatching OMIM:619370 KHDC4 skos:exactMatch ncbigene:22889 semapv:UnspecifiedMatching -OMIM:619372 URB2 skos:exactMatch hgnc:URB2 semapv:UnspecifiedMatching +OMIM:619372 URB2 skos:exactMatch hgnc.symbol:28967 semapv:UnspecifiedMatching +OMIM:619372 URB2 skos:exactMatch hgnc.symbol:URB2 semapv:UnspecifiedMatching OMIM:619372 URB2 skos:exactMatch ncbigene:9816 semapv:UnspecifiedMatching -OMIM:619378 SNORA31 skos:exactMatch hgnc:SNORA31 semapv:UnspecifiedMatching +OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:32621 semapv:UnspecifiedMatching +OMIM:619378 SNORA31 skos:exactMatch hgnc.symbol:SNORA31 semapv:UnspecifiedMatching OMIM:619378 SNORA31 skos:exactMatch ncbigene:677814 semapv:UnspecifiedMatching -OMIM:619384 ZBTB39 skos:exactMatch hgnc:ZBTB39 semapv:UnspecifiedMatching +OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:29014 semapv:UnspecifiedMatching +OMIM:619384 ZBTB39 skos:exactMatch hgnc.symbol:ZBTB39 semapv:UnspecifiedMatching OMIM:619384 ZBTB39 skos:exactMatch ncbigene:9880 semapv:UnspecifiedMatching -OMIM:619385 ZNF510 skos:exactMatch hgnc:ZNF510 semapv:UnspecifiedMatching +OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:29161 semapv:UnspecifiedMatching +OMIM:619385 ZNF510 skos:exactMatch hgnc.symbol:ZNF510 semapv:UnspecifiedMatching OMIM:619385 ZNF510 skos:exactMatch ncbigene:22869 semapv:UnspecifiedMatching -OMIM:619387 CATIP skos:exactMatch hgnc:CATIP semapv:UnspecifiedMatching +OMIM:619387 CATIP skos:exactMatch hgnc.symbol:25062 semapv:UnspecifiedMatching +OMIM:619387 CATIP skos:exactMatch hgnc.symbol:CATIP semapv:UnspecifiedMatching OMIM:619387 CATIP skos:exactMatch ncbigene:375307 semapv:UnspecifiedMatching -OMIM:619388 TTC17 skos:exactMatch hgnc:TTC17 semapv:UnspecifiedMatching +OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:25596 semapv:UnspecifiedMatching +OMIM:619388 TTC17 skos:exactMatch hgnc.symbol:TTC17 semapv:UnspecifiedMatching OMIM:619388 TTC17 skos:exactMatch ncbigene:55761 semapv:UnspecifiedMatching -OMIM:619390 COL20A1 skos:exactMatch hgnc:COL20A1 semapv:UnspecifiedMatching +OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:14670 semapv:UnspecifiedMatching +OMIM:619390 COL20A1 skos:exactMatch hgnc.symbol:COL20A1 semapv:UnspecifiedMatching OMIM:619390 COL20A1 skos:exactMatch ncbigene:57642 semapv:UnspecifiedMatching -OMIM:619391 CCDC157 skos:exactMatch hgnc:CCDC157 semapv:UnspecifiedMatching +OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:33854 semapv:UnspecifiedMatching +OMIM:619391 CCDC157 skos:exactMatch hgnc.symbol:CCDC157 semapv:UnspecifiedMatching OMIM:619391 CCDC157 skos:exactMatch ncbigene:550631 semapv:UnspecifiedMatching -OMIM:619392 C14ORF180 skos:exactMatch hgnc:C14orf180 semapv:UnspecifiedMatching +OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:33795 semapv:UnspecifiedMatching +OMIM:619392 C14ORF180 skos:exactMatch hgnc.symbol:C14orf180 semapv:UnspecifiedMatching OMIM:619392 C14ORF180 skos:exactMatch ncbigene:400258 semapv:UnspecifiedMatching -OMIM:619393 KBTBD2 skos:exactMatch hgnc:KBTBD2 semapv:UnspecifiedMatching +OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:21751 semapv:UnspecifiedMatching +OMIM:619393 KBTBD2 skos:exactMatch hgnc.symbol:KBTBD2 semapv:UnspecifiedMatching OMIM:619393 KBTBD2 skos:exactMatch ncbigene:25948 semapv:UnspecifiedMatching -OMIM:619394 CBR4 skos:exactMatch hgnc:CBR4 semapv:UnspecifiedMatching +OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:25891 semapv:UnspecifiedMatching +OMIM:619394 CBR4 skos:exactMatch hgnc.symbol:CBR4 semapv:UnspecifiedMatching OMIM:619394 CBR4 skos:exactMatch ncbigene:84869 semapv:UnspecifiedMatching -OMIM:619395 MYEF2 skos:exactMatch hgnc:MYEF2 semapv:UnspecifiedMatching +OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:17940 semapv:UnspecifiedMatching +OMIM:619395 MYEF2 skos:exactMatch hgnc.symbol:MYEF2 semapv:UnspecifiedMatching OMIM:619395 MYEF2 skos:exactMatch ncbigene:50804 semapv:UnspecifiedMatching -OMIM:619397 ZFPL1 skos:exactMatch hgnc:ZFPL1 semapv:UnspecifiedMatching +OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:12868 semapv:UnspecifiedMatching +OMIM:619397 ZFPL1 skos:exactMatch hgnc.symbol:ZFPL1 semapv:UnspecifiedMatching OMIM:619397 ZFPL1 skos:exactMatch ncbigene:7542 semapv:UnspecifiedMatching -OMIM:619399 TSPAN18 skos:exactMatch hgnc:TSPAN18 semapv:UnspecifiedMatching +OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:20660 semapv:UnspecifiedMatching +OMIM:619399 TSPAN18 skos:exactMatch hgnc.symbol:TSPAN18 semapv:UnspecifiedMatching OMIM:619399 TSPAN18 skos:exactMatch ncbigene:90139 semapv:UnspecifiedMatching -OMIM:619403 CCAT2 skos:exactMatch hgnc:CCAT2 semapv:UnspecifiedMatching +OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:47044 semapv:UnspecifiedMatching +OMIM:619403 CCAT2 skos:exactMatch hgnc.symbol:CCAT2 semapv:UnspecifiedMatching OMIM:619403 CCAT2 skos:exactMatch ncbigene:101805488 semapv:UnspecifiedMatching -OMIM:619404 TRMT61B skos:exactMatch hgnc:TRMT61B semapv:UnspecifiedMatching +OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:26070 semapv:UnspecifiedMatching +OMIM:619404 TRMT61B skos:exactMatch hgnc.symbol:TRMT61B semapv:UnspecifiedMatching OMIM:619404 TRMT61B skos:exactMatch ncbigene:55006 semapv:UnspecifiedMatching -OMIM:619408 TRIM65 skos:exactMatch hgnc:TRIM65 semapv:UnspecifiedMatching +OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:27316 semapv:UnspecifiedMatching +OMIM:619408 TRIM65 skos:exactMatch hgnc.symbol:TRIM65 semapv:UnspecifiedMatching OMIM:619408 TRIM65 skos:exactMatch ncbigene:201292 semapv:UnspecifiedMatching -OMIM:619409 TSPO2 skos:exactMatch hgnc:TSPO2 semapv:UnspecifiedMatching +OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:21256 semapv:UnspecifiedMatching +OMIM:619409 TSPO2 skos:exactMatch hgnc.symbol:TSPO2 semapv:UnspecifiedMatching OMIM:619409 TSPO2 skos:exactMatch ncbigene:222642 semapv:UnspecifiedMatching -OMIM:619410 TTLL12 skos:exactMatch hgnc:TTLL12 semapv:UnspecifiedMatching +OMIM:619410 TTLL12 skos:exactMatch hgnc.symbol:28974 semapv:UnspecifiedMatching +OMIM:619410 TTLL12 skos:exactMatch hgnc.symbol:TTLL12 semapv:UnspecifiedMatching OMIM:619410 TTLL12 skos:exactMatch ncbigene:23170 semapv:UnspecifiedMatching -OMIM:619411 SPCS2 skos:exactMatch hgnc:SPCS2 semapv:UnspecifiedMatching +OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:28962 semapv:UnspecifiedMatching +OMIM:619411 SPCS2 skos:exactMatch hgnc.symbol:SPCS2 semapv:UnspecifiedMatching OMIM:619411 SPCS2 skos:exactMatch ncbigene:9789 semapv:UnspecifiedMatching -OMIM:619412 SEC14L5 skos:exactMatch hgnc:SEC14L5 semapv:UnspecifiedMatching +OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:29032 semapv:UnspecifiedMatching +OMIM:619412 SEC14L5 skos:exactMatch hgnc.symbol:SEC14L5 semapv:UnspecifiedMatching OMIM:619412 SEC14L5 skos:exactMatch ncbigene:9717 semapv:UnspecifiedMatching -OMIM:619413 CCDC144A skos:exactMatch hgnc:CCDC144A semapv:UnspecifiedMatching +OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:29072 semapv:UnspecifiedMatching +OMIM:619413 CCDC144A skos:exactMatch hgnc.symbol:CCDC144A semapv:UnspecifiedMatching OMIM:619413 CCDC144A skos:exactMatch ncbigene:9720 semapv:UnspecifiedMatching -OMIM:619414 MTFR1 skos:exactMatch hgnc:MTFR1 semapv:UnspecifiedMatching +OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:29510 semapv:UnspecifiedMatching +OMIM:619414 MTFR1 skos:exactMatch hgnc.symbol:MTFR1 semapv:UnspecifiedMatching OMIM:619414 MTFR1 skos:exactMatch ncbigene:9650 semapv:UnspecifiedMatching -OMIM:619415 TTBK1 skos:exactMatch hgnc:TTBK1 semapv:UnspecifiedMatching +OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:19140 semapv:UnspecifiedMatching +OMIM:619415 TTBK1 skos:exactMatch hgnc.symbol:TTBK1 semapv:UnspecifiedMatching OMIM:619415 TTBK1 skos:exactMatch ncbigene:84630 semapv:UnspecifiedMatching -OMIM:619416 TRIM60 skos:exactMatch hgnc:TRIM60 semapv:UnspecifiedMatching +OMIM:619416 TRIM60 skos:exactMatch hgnc.symbol:21162 semapv:UnspecifiedMatching +OMIM:619416 TRIM60 skos:exactMatch hgnc.symbol:TRIM60 semapv:UnspecifiedMatching OMIM:619416 TRIM60 skos:exactMatch ncbigene:166655 semapv:UnspecifiedMatching -OMIM:619417 TRIM61 skos:exactMatch hgnc:TRIM61 semapv:UnspecifiedMatching +OMIM:619417 TRIM61 skos:exactMatch hgnc.symbol:24339 semapv:UnspecifiedMatching +OMIM:619417 TRIM61 skos:exactMatch hgnc.symbol:TRIM61 semapv:UnspecifiedMatching OMIM:619417 TRIM61 skos:exactMatch ncbigene:391712 semapv:UnspecifiedMatching -OMIM:619419 NACAD skos:exactMatch hgnc:NACAD semapv:UnspecifiedMatching +OMIM:619419 NACAD skos:exactMatch hgnc.symbol:22196 semapv:UnspecifiedMatching +OMIM:619419 NACAD skos:exactMatch hgnc.symbol:NACAD semapv:UnspecifiedMatching OMIM:619419 NACAD skos:exactMatch ncbigene:23148 semapv:UnspecifiedMatching -OMIM:619421 DYNAP skos:exactMatch hgnc:DYNAP semapv:UnspecifiedMatching +OMIM:619421 DYNAP skos:exactMatch hgnc.symbol:26808 semapv:UnspecifiedMatching +OMIM:619421 DYNAP skos:exactMatch hgnc.symbol:DYNAP semapv:UnspecifiedMatching OMIM:619421 DYNAP skos:exactMatch ncbigene:284254 semapv:UnspecifiedMatching -OMIM:619427 ZNF410 skos:exactMatch hgnc:ZNF410 semapv:UnspecifiedMatching +OMIM:619427 ZNF410 skos:exactMatch hgnc.symbol:20144 semapv:UnspecifiedMatching +OMIM:619427 ZNF410 skos:exactMatch hgnc.symbol:ZNF410 semapv:UnspecifiedMatching OMIM:619427 ZNF410 skos:exactMatch ncbigene:57862 semapv:UnspecifiedMatching -OMIM:619429 TMCC2 skos:exactMatch hgnc:TMCC2 semapv:UnspecifiedMatching +OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:24239 semapv:UnspecifiedMatching +OMIM:619429 TMCC2 skos:exactMatch hgnc.symbol:TMCC2 semapv:UnspecifiedMatching OMIM:619429 TMCC2 skos:exactMatch ncbigene:9911 semapv:UnspecifiedMatching -OMIM:619430 SPINT4 skos:exactMatch hgnc:SPINT4 semapv:UnspecifiedMatching +OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:16130 semapv:UnspecifiedMatching +OMIM:619430 SPINT4 skos:exactMatch hgnc.symbol:SPINT4 semapv:UnspecifiedMatching OMIM:619430 SPINT4 skos:exactMatch ncbigene:391253 semapv:UnspecifiedMatching -OMIM:619432 NAA11 skos:exactMatch hgnc:NAA11 semapv:UnspecifiedMatching +OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:28125 semapv:UnspecifiedMatching +OMIM:619432 NAA11 skos:exactMatch hgnc.symbol:NAA11 semapv:UnspecifiedMatching OMIM:619432 NAA11 skos:exactMatch ncbigene:84779 semapv:UnspecifiedMatching -OMIM:619434 SUCO skos:exactMatch hgnc:SUCO semapv:UnspecifiedMatching +OMIM:619434 SUCO skos:exactMatch hgnc.symbol:1240 semapv:UnspecifiedMatching +OMIM:619434 SUCO skos:exactMatch hgnc.symbol:SUCO semapv:UnspecifiedMatching OMIM:619434 SUCO skos:exactMatch ncbigene:51430 semapv:UnspecifiedMatching -OMIM:619438 NAA35 skos:exactMatch hgnc:NAA35 semapv:UnspecifiedMatching +OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:24340 semapv:UnspecifiedMatching +OMIM:619438 NAA35 skos:exactMatch hgnc.symbol:NAA35 semapv:UnspecifiedMatching OMIM:619438 NAA35 skos:exactMatch ncbigene:60560 semapv:UnspecifiedMatching -OMIM:619439 PARP6 skos:exactMatch hgnc:PARP6 semapv:UnspecifiedMatching +OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:26921 semapv:UnspecifiedMatching +OMIM:619439 PARP6 skos:exactMatch hgnc.symbol:PARP6 semapv:UnspecifiedMatching OMIM:619439 PARP6 skos:exactMatch ncbigene:56965 semapv:UnspecifiedMatching -OMIM:619440 QSER1 skos:exactMatch hgnc:QSER1 semapv:UnspecifiedMatching +OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:26154 semapv:UnspecifiedMatching +OMIM:619440 QSER1 skos:exactMatch hgnc.symbol:QSER1 semapv:UnspecifiedMatching OMIM:619440 QSER1 skos:exactMatch ncbigene:79832 semapv:UnspecifiedMatching -OMIM:619442 TULP4 skos:exactMatch hgnc:TULP4 semapv:UnspecifiedMatching +OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:15530 semapv:UnspecifiedMatching +OMIM:619442 TULP4 skos:exactMatch hgnc.symbol:TULP4 semapv:UnspecifiedMatching OMIM:619442 TULP4 skos:exactMatch ncbigene:56995 semapv:UnspecifiedMatching -OMIM:619443 MEIS3 skos:exactMatch hgnc:MEIS3 semapv:UnspecifiedMatching +OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:29537 semapv:UnspecifiedMatching +OMIM:619443 MEIS3 skos:exactMatch hgnc.symbol:MEIS3 semapv:UnspecifiedMatching OMIM:619443 MEIS3 skos:exactMatch ncbigene:56917 semapv:UnspecifiedMatching -OMIM:619444 CCDC7 skos:exactMatch hgnc:CCDC7 semapv:UnspecifiedMatching +OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:26533 semapv:UnspecifiedMatching +OMIM:619444 CCDC7 skos:exactMatch hgnc.symbol:CCDC7 semapv:UnspecifiedMatching OMIM:619444 CCDC7 skos:exactMatch ncbigene:79741 semapv:UnspecifiedMatching -OMIM:619447 FAM189B skos:exactMatch hgnc:ENTREP3 semapv:UnspecifiedMatching +OMIM:619447 FAM189B skos:exactMatch hgnc.symbol:ENTREP3 semapv:UnspecifiedMatching OMIM:619447 FAM189B skos:exactMatch ncbigene:10712 semapv:UnspecifiedMatching -OMIM:619448 SRARP skos:exactMatch hgnc:SRARP semapv:UnspecifiedMatching +OMIM:619448 SRARP skos:exactMatch hgnc.symbol:28339 semapv:UnspecifiedMatching +OMIM:619448 SRARP skos:exactMatch hgnc.symbol:SRARP semapv:UnspecifiedMatching OMIM:619448 SRARP skos:exactMatch ncbigene:149563 semapv:UnspecifiedMatching -OMIM:619449 RRP7A skos:exactMatch hgnc:RRP7A semapv:UnspecifiedMatching +OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:24286 semapv:UnspecifiedMatching +OMIM:619449 RRP7A skos:exactMatch hgnc.symbol:RRP7A semapv:UnspecifiedMatching OMIM:619449 RRP7A skos:exactMatch ncbigene:27341 semapv:UnspecifiedMatching -OMIM:619450 MIR874 skos:exactMatch hgnc:MIR874 semapv:UnspecifiedMatching +OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:33643 semapv:UnspecifiedMatching +OMIM:619450 MIR874 skos:exactMatch hgnc.symbol:MIR874 semapv:UnspecifiedMatching OMIM:619450 MIR874 skos:exactMatch ncbigene:100126343 semapv:UnspecifiedMatching -OMIM:619454 RNF144A skos:exactMatch hgnc:RNF144A semapv:UnspecifiedMatching +OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:20457 semapv:UnspecifiedMatching +OMIM:619454 RNF144A skos:exactMatch hgnc.symbol:RNF144A semapv:UnspecifiedMatching OMIM:619454 RNF144A skos:exactMatch ncbigene:9781 semapv:UnspecifiedMatching -OMIM:619455 SH3PXD2A skos:exactMatch hgnc:SH3PXD2A semapv:UnspecifiedMatching +OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:23664 semapv:UnspecifiedMatching +OMIM:619455 SH3PXD2A skos:exactMatch hgnc.symbol:SH3PXD2A semapv:UnspecifiedMatching OMIM:619455 SH3PXD2A skos:exactMatch ncbigene:9644 semapv:UnspecifiedMatching -OMIM:619456 CDC42SE1 skos:exactMatch hgnc:CDC42SE1 semapv:UnspecifiedMatching +OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:17719 semapv:UnspecifiedMatching +OMIM:619456 CDC42SE1 skos:exactMatch hgnc.symbol:CDC42SE1 semapv:UnspecifiedMatching OMIM:619456 CDC42SE1 skos:exactMatch ncbigene:56882 semapv:UnspecifiedMatching -OMIM:619457 CDC42SE2 skos:exactMatch hgnc:CDC42SE2 semapv:UnspecifiedMatching +OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:18547 semapv:UnspecifiedMatching +OMIM:619457 CDC42SE2 skos:exactMatch hgnc.symbol:CDC42SE2 semapv:UnspecifiedMatching OMIM:619457 CDC42SE2 skos:exactMatch ncbigene:56990 semapv:UnspecifiedMatching -OMIM:619458 MBD6 skos:exactMatch hgnc:MBD6 semapv:UnspecifiedMatching +OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:20445 semapv:UnspecifiedMatching +OMIM:619458 MBD6 skos:exactMatch hgnc.symbol:MBD6 semapv:UnspecifiedMatching OMIM:619458 MBD6 skos:exactMatch ncbigene:114785 semapv:UnspecifiedMatching -OMIM:619459 ZZEF1 skos:exactMatch hgnc:ZZEF1 semapv:UnspecifiedMatching +OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:29027 semapv:UnspecifiedMatching +OMIM:619459 ZZEF1 skos:exactMatch hgnc.symbol:ZZEF1 semapv:UnspecifiedMatching OMIM:619459 ZZEF1 skos:exactMatch ncbigene:23140 semapv:UnspecifiedMatching -OMIM:619469 TMEM222 skos:exactMatch hgnc:TMEM222 semapv:UnspecifiedMatching +OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:25363 semapv:UnspecifiedMatching +OMIM:619469 TMEM222 skos:exactMatch hgnc.symbol:TMEM222 semapv:UnspecifiedMatching OMIM:619469 TMEM222 skos:exactMatch ncbigene:84065 semapv:UnspecifiedMatching -OMIM:619474 R3HDM1 skos:exactMatch hgnc:R3HDM1 semapv:UnspecifiedMatching +OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:9757 semapv:UnspecifiedMatching +OMIM:619474 R3HDM1 skos:exactMatch hgnc.symbol:R3HDM1 semapv:UnspecifiedMatching OMIM:619474 R3HDM1 skos:exactMatch ncbigene:23518 semapv:UnspecifiedMatching -OMIM:619485 PAPPA2 skos:exactMatch hgnc:PAPPA2 semapv:UnspecifiedMatching +OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:14615 semapv:UnspecifiedMatching +OMIM:619485 PAPPA2 skos:exactMatch hgnc.symbol:PAPPA2 semapv:UnspecifiedMatching OMIM:619485 PAPPA2 skos:exactMatch ncbigene:60676 semapv:UnspecifiedMatching -OMIM:619490 LMBRD2 skos:exactMatch hgnc:LMBRD2 semapv:UnspecifiedMatching +OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:25287 semapv:UnspecifiedMatching +OMIM:619490 LMBRD2 skos:exactMatch hgnc.symbol:LMBRD2 semapv:UnspecifiedMatching OMIM:619490 LMBRD2 skos:exactMatch ncbigene:92255 semapv:UnspecifiedMatching -OMIM:619494 SNHG11 skos:exactMatch hgnc:SNHG11 semapv:UnspecifiedMatching +OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:25046 semapv:UnspecifiedMatching +OMIM:619494 SNHG11 skos:exactMatch hgnc.symbol:SNHG11 semapv:UnspecifiedMatching OMIM:619494 SNHG11 skos:exactMatch ncbigene:128439 semapv:UnspecifiedMatching -OMIM:619495 ADAM18 skos:exactMatch hgnc:ADAM18 semapv:UnspecifiedMatching +OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:196 semapv:UnspecifiedMatching +OMIM:619495 ADAM18 skos:exactMatch hgnc.symbol:ADAM18 semapv:UnspecifiedMatching OMIM:619495 ADAM18 skos:exactMatch ncbigene:8749 semapv:UnspecifiedMatching -OMIM:619496 ZNF358 skos:exactMatch hgnc:ZNF358 semapv:UnspecifiedMatching +OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:16838 semapv:UnspecifiedMatching +OMIM:619496 ZNF358 skos:exactMatch hgnc.symbol:ZNF358 semapv:UnspecifiedMatching OMIM:619496 ZNF358 skos:exactMatch ncbigene:140467 semapv:UnspecifiedMatching -OMIM:619497 NAA16 skos:exactMatch hgnc:NAA16 semapv:UnspecifiedMatching +OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:26164 semapv:UnspecifiedMatching +OMIM:619497 NAA16 skos:exactMatch hgnc.symbol:NAA16 semapv:UnspecifiedMatching OMIM:619497 NAA16 skos:exactMatch ncbigene:79612 semapv:UnspecifiedMatching -OMIM:619498 ZC3H4 skos:exactMatch hgnc:ZC3H4 semapv:UnspecifiedMatching +OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:17808 semapv:UnspecifiedMatching +OMIM:619498 ZC3H4 skos:exactMatch hgnc.symbol:ZC3H4 semapv:UnspecifiedMatching OMIM:619498 ZC3H4 skos:exactMatch ncbigene:23211 semapv:UnspecifiedMatching -OMIM:619499 ZNF383 skos:exactMatch hgnc:ZNF383 semapv:UnspecifiedMatching +OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:18609 semapv:UnspecifiedMatching +OMIM:619499 ZNF383 skos:exactMatch hgnc.symbol:ZNF383 semapv:UnspecifiedMatching OMIM:619499 ZNF383 skos:exactMatch ncbigene:163087 semapv:UnspecifiedMatching -OMIM:619502 C9ORF24 skos:exactMatch hgnc:SPMIP6 semapv:UnspecifiedMatching +OMIM:619502 C9ORF24 skos:exactMatch hgnc.symbol:SPMIP6 semapv:UnspecifiedMatching OMIM:619502 C9ORF24 skos:exactMatch ncbigene:84688 semapv:UnspecifiedMatching -OMIM:619505 ZNF431 skos:exactMatch hgnc:ZNF431 semapv:UnspecifiedMatching +OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:20809 semapv:UnspecifiedMatching +OMIM:619505 ZNF431 skos:exactMatch hgnc.symbol:ZNF431 semapv:UnspecifiedMatching OMIM:619505 ZNF431 skos:exactMatch ncbigene:170959 semapv:UnspecifiedMatching -OMIM:619506 ZNF415 skos:exactMatch hgnc:ZNF415 semapv:UnspecifiedMatching +OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:20636 semapv:UnspecifiedMatching +OMIM:619506 ZNF415 skos:exactMatch hgnc.symbol:ZNF415 semapv:UnspecifiedMatching OMIM:619506 ZNF415 skos:exactMatch ncbigene:55786 semapv:UnspecifiedMatching -OMIM:619507 ZNF425 skos:exactMatch hgnc:ZNF425 semapv:UnspecifiedMatching +OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:20690 semapv:UnspecifiedMatching +OMIM:619507 ZNF425 skos:exactMatch hgnc.symbol:ZNF425 semapv:UnspecifiedMatching OMIM:619507 ZNF425 skos:exactMatch ncbigene:155054 semapv:UnspecifiedMatching -OMIM:619508 ZNF445 skos:exactMatch hgnc:ZNF445 semapv:UnspecifiedMatching +OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:21018 semapv:UnspecifiedMatching +OMIM:619508 ZNF445 skos:exactMatch hgnc.symbol:ZNF445 semapv:UnspecifiedMatching OMIM:619508 ZNF445 skos:exactMatch ncbigene:353274 semapv:UnspecifiedMatching -OMIM:619509 ZNF418 skos:exactMatch hgnc:ZNF418 semapv:UnspecifiedMatching +OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:20647 semapv:UnspecifiedMatching +OMIM:619509 ZNF418 skos:exactMatch hgnc.symbol:ZNF418 semapv:UnspecifiedMatching OMIM:619509 ZNF418 skos:exactMatch ncbigene:147686 semapv:UnspecifiedMatching -OMIM:619511 ZNF354C skos:exactMatch hgnc:ZNF354C semapv:UnspecifiedMatching +OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:16736 semapv:UnspecifiedMatching +OMIM:619511 ZNF354C skos:exactMatch hgnc.symbol:ZNF354C semapv:UnspecifiedMatching OMIM:619511 ZNF354C skos:exactMatch ncbigene:30832 semapv:UnspecifiedMatching -OMIM:619513 SWT1 skos:exactMatch hgnc:SWT1 semapv:UnspecifiedMatching +OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:16785 semapv:UnspecifiedMatching +OMIM:619513 SWT1 skos:exactMatch hgnc.symbol:SWT1 semapv:UnspecifiedMatching OMIM:619513 SWT1 skos:exactMatch ncbigene:54823 semapv:UnspecifiedMatching -OMIM:619514 SHCBP1L skos:exactMatch hgnc:SHCBP1L semapv:UnspecifiedMatching +OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:16788 semapv:UnspecifiedMatching +OMIM:619514 SHCBP1L skos:exactMatch hgnc.symbol:SHCBP1L semapv:UnspecifiedMatching OMIM:619514 SHCBP1L skos:exactMatch ncbigene:81626 semapv:UnspecifiedMatching -OMIM:619516 BFAR skos:exactMatch hgnc:BFAR semapv:UnspecifiedMatching +OMIM:619516 BFAR skos:exactMatch hgnc.symbol:17613 semapv:UnspecifiedMatching +OMIM:619516 BFAR skos:exactMatch hgnc.symbol:BFAR semapv:UnspecifiedMatching OMIM:619516 BFAR skos:exactMatch ncbigene:51283 semapv:UnspecifiedMatching -OMIM:619524 ZNF764 skos:exactMatch hgnc:ZNF764 semapv:UnspecifiedMatching +OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:28200 semapv:UnspecifiedMatching +OMIM:619524 ZNF764 skos:exactMatch hgnc.symbol:ZNF764 semapv:UnspecifiedMatching OMIM:619524 ZNF764 skos:exactMatch ncbigene:92595 semapv:UnspecifiedMatching -OMIM:619526 ZNF706 skos:exactMatch hgnc:ZNF706 semapv:UnspecifiedMatching +OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:24992 semapv:UnspecifiedMatching +OMIM:619526 ZNF706 skos:exactMatch hgnc.symbol:ZNF706 semapv:UnspecifiedMatching OMIM:619526 ZNF706 skos:exactMatch ncbigene:51123 semapv:UnspecifiedMatching -OMIM:619529 PNLDC1 skos:exactMatch hgnc:PNLDC1 semapv:UnspecifiedMatching +OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:21185 semapv:UnspecifiedMatching +OMIM:619529 PNLDC1 skos:exactMatch hgnc.symbol:PNLDC1 semapv:UnspecifiedMatching OMIM:619529 PNLDC1 skos:exactMatch ncbigene:154197 semapv:UnspecifiedMatching -OMIM:619530 SLC35C2 skos:exactMatch hgnc:SLC35C2 semapv:UnspecifiedMatching +OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:17117 semapv:UnspecifiedMatching +OMIM:619530 SLC35C2 skos:exactMatch hgnc.symbol:SLC35C2 semapv:UnspecifiedMatching OMIM:619530 SLC35C2 skos:exactMatch ncbigene:51006 semapv:UnspecifiedMatching -OMIM:619532 ADAD2 skos:exactMatch hgnc:ADAD2 semapv:UnspecifiedMatching +OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:30714 semapv:UnspecifiedMatching +OMIM:619532 ADAD2 skos:exactMatch hgnc.symbol:ADAD2 semapv:UnspecifiedMatching OMIM:619532 ADAD2 skos:exactMatch ncbigene:161931 semapv:UnspecifiedMatching -OMIM:619533 RAD21L1 skos:exactMatch hgnc:RAD21L1 semapv:UnspecifiedMatching +OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:16271 semapv:UnspecifiedMatching +OMIM:619533 RAD21L1 skos:exactMatch hgnc.symbol:RAD21L1 semapv:UnspecifiedMatching OMIM:619533 RAD21L1 skos:exactMatch ncbigene:642636 semapv:UnspecifiedMatching -OMIM:619535 RNF115 skos:exactMatch hgnc:RNF115 semapv:UnspecifiedMatching +OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:18154 semapv:UnspecifiedMatching +OMIM:619535 RNF115 skos:exactMatch hgnc.symbol:RNF115 semapv:UnspecifiedMatching OMIM:619535 RNF115 skos:exactMatch ncbigene:27246 semapv:UnspecifiedMatching -OMIM:619536 USP31 skos:exactMatch hgnc:USP31 semapv:UnspecifiedMatching +OMIM:619536 USP31 skos:exactMatch hgnc.symbol:20060 semapv:UnspecifiedMatching +OMIM:619536 USP31 skos:exactMatch hgnc.symbol:USP31 semapv:UnspecifiedMatching OMIM:619536 USP31 skos:exactMatch ncbigene:57478 semapv:UnspecifiedMatching -OMIM:619537 ANGEL1 skos:exactMatch hgnc:ANGEL1 semapv:UnspecifiedMatching +OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:19961 semapv:UnspecifiedMatching +OMIM:619537 ANGEL1 skos:exactMatch hgnc.symbol:ANGEL1 semapv:UnspecifiedMatching OMIM:619537 ANGEL1 skos:exactMatch ncbigene:23357 semapv:UnspecifiedMatching -OMIM:619540 PPP1R3E skos:exactMatch hgnc:PPP1R3E semapv:UnspecifiedMatching +OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:14943 semapv:UnspecifiedMatching +OMIM:619540 PPP1R3E skos:exactMatch hgnc.symbol:PPP1R3E semapv:UnspecifiedMatching OMIM:619540 PPP1R3E skos:exactMatch ncbigene:90673 semapv:UnspecifiedMatching -OMIM:619541 PPP1R3G skos:exactMatch hgnc:PPP1R3G semapv:UnspecifiedMatching +OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:14945 semapv:UnspecifiedMatching +OMIM:619541 PPP1R3G skos:exactMatch hgnc.symbol:PPP1R3G semapv:UnspecifiedMatching OMIM:619541 PPP1R3G skos:exactMatch ncbigene:648791 semapv:UnspecifiedMatching -OMIM:619544 PRRC2B skos:exactMatch hgnc:PRRC2B semapv:UnspecifiedMatching +OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:28121 semapv:UnspecifiedMatching +OMIM:619544 PRRC2B skos:exactMatch hgnc.symbol:PRRC2B semapv:UnspecifiedMatching OMIM:619544 PRRC2B skos:exactMatch ncbigene:84726 semapv:UnspecifiedMatching -OMIM:619546 OR10J5 skos:exactMatch hgnc:OR10J5 semapv:UnspecifiedMatching +OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:14993 semapv:UnspecifiedMatching +OMIM:619546 OR10J5 skos:exactMatch hgnc.symbol:OR10J5 semapv:UnspecifiedMatching OMIM:619546 OR10J5 skos:exactMatch ncbigene:127385 semapv:UnspecifiedMatching -OMIM:619547 RAB15 skos:exactMatch hgnc:RAB15 semapv:UnspecifiedMatching +OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:20150 semapv:UnspecifiedMatching +OMIM:619547 RAB15 skos:exactMatch hgnc.symbol:RAB15 semapv:UnspecifiedMatching OMIM:619547 RAB15 skos:exactMatch ncbigene:376267 semapv:UnspecifiedMatching -OMIM:619550 RAB40B skos:exactMatch hgnc:RAB40B semapv:UnspecifiedMatching +OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:18284 semapv:UnspecifiedMatching +OMIM:619550 RAB40B skos:exactMatch hgnc.symbol:RAB40B semapv:UnspecifiedMatching OMIM:619550 RAB40B skos:exactMatch ncbigene:10966 semapv:UnspecifiedMatching -OMIM:619551 RAB40C skos:exactMatch hgnc:RAB40C semapv:UnspecifiedMatching +OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:18285 semapv:UnspecifiedMatching +OMIM:619551 RAB40C skos:exactMatch hgnc.symbol:RAB40C semapv:UnspecifiedMatching OMIM:619551 RAB40C skos:exactMatch ncbigene:57799 semapv:UnspecifiedMatching -OMIM:619552 MAGOHB skos:exactMatch hgnc:MAGOHB semapv:UnspecifiedMatching +OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:25504 semapv:UnspecifiedMatching +OMIM:619552 MAGOHB skos:exactMatch hgnc.symbol:MAGOHB semapv:UnspecifiedMatching OMIM:619552 MAGOHB skos:exactMatch ncbigene:55110 semapv:UnspecifiedMatching -OMIM:619554 MTIF3 skos:exactMatch hgnc:MTIF3 semapv:UnspecifiedMatching +OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:29788 semapv:UnspecifiedMatching +OMIM:619554 MTIF3 skos:exactMatch hgnc.symbol:MTIF3 semapv:UnspecifiedMatching OMIM:619554 MTIF3 skos:exactMatch ncbigene:219402 semapv:UnspecifiedMatching -OMIM:619558 RAB39A skos:exactMatch hgnc:RAB39A semapv:UnspecifiedMatching +OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:16521 semapv:UnspecifiedMatching +OMIM:619558 RAB39A skos:exactMatch hgnc.symbol:RAB39A semapv:UnspecifiedMatching OMIM:619558 RAB39A skos:exactMatch ncbigene:54734 semapv:UnspecifiedMatching -OMIM:619559 EFCAB14 skos:exactMatch hgnc:EFCAB14 semapv:UnspecifiedMatching +OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:29051 semapv:UnspecifiedMatching +OMIM:619559 EFCAB14 skos:exactMatch hgnc.symbol:EFCAB14 semapv:UnspecifiedMatching OMIM:619559 EFCAB14 skos:exactMatch ncbigene:9813 semapv:UnspecifiedMatching -OMIM:619560 MIR135B skos:exactMatch hgnc:MIR135B semapv:UnspecifiedMatching +OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:31760 semapv:UnspecifiedMatching +OMIM:619560 MIR135B skos:exactMatch hgnc.symbol:MIR135B semapv:UnspecifiedMatching OMIM:619560 MIR135B skos:exactMatch ncbigene:442891 semapv:UnspecifiedMatching -OMIM:619563 MICALL1 skos:exactMatch hgnc:MICALL1 semapv:UnspecifiedMatching +OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:29804 semapv:UnspecifiedMatching +OMIM:619563 MICALL1 skos:exactMatch hgnc.symbol:MICALL1 semapv:UnspecifiedMatching OMIM:619563 MICALL1 skos:exactMatch ncbigene:85377 semapv:UnspecifiedMatching -OMIM:619564 CLXN skos:exactMatch hgnc:CLXN semapv:UnspecifiedMatching +OMIM:619564 CLXN skos:exactMatch hgnc.symbol:25678 semapv:UnspecifiedMatching +OMIM:619564 CLXN skos:exactMatch hgnc.symbol:CLXN semapv:UnspecifiedMatching OMIM:619564 CLXN skos:exactMatch ncbigene:79645 semapv:UnspecifiedMatching -OMIM:619567 EFCAB3 skos:exactMatch hgnc:EFCAB3 semapv:UnspecifiedMatching +OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:26379 semapv:UnspecifiedMatching +OMIM:619567 EFCAB3 skos:exactMatch hgnc.symbol:EFCAB3 semapv:UnspecifiedMatching OMIM:619567 EFCAB3 skos:exactMatch ncbigene:146779 semapv:UnspecifiedMatching -OMIM:619568 ENDOD1 skos:exactMatch hgnc:ENDOD1 semapv:UnspecifiedMatching +OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:29129 semapv:UnspecifiedMatching +OMIM:619568 ENDOD1 skos:exactMatch hgnc.symbol:ENDOD1 semapv:UnspecifiedMatching OMIM:619568 ENDOD1 skos:exactMatch ncbigene:23052 semapv:UnspecifiedMatching -OMIM:619569 C9ORF78 skos:exactMatch hgnc:C9orf78 semapv:UnspecifiedMatching +OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:24932 semapv:UnspecifiedMatching +OMIM:619569 C9ORF78 skos:exactMatch hgnc.symbol:C9orf78 semapv:UnspecifiedMatching OMIM:619569 C9ORF78 skos:exactMatch ncbigene:51759 semapv:UnspecifiedMatching -OMIM:619570 UHRF1BP1 skos:exactMatch hgnc:BLTP3A semapv:UnspecifiedMatching +OMIM:619570 UHRF1BP1 skos:exactMatch hgnc.symbol:BLTP3A semapv:UnspecifiedMatching OMIM:619570 UHRF1BP1 skos:exactMatch ncbigene:54887 semapv:UnspecifiedMatching -OMIM:619571 ANKRD49 skos:exactMatch hgnc:ANKRD49 semapv:UnspecifiedMatching +OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:25970 semapv:UnspecifiedMatching +OMIM:619571 ANKRD49 skos:exactMatch hgnc.symbol:ANKRD49 semapv:UnspecifiedMatching OMIM:619571 ANKRD49 skos:exactMatch ncbigene:54851 semapv:UnspecifiedMatching -OMIM:619572 MIR15B skos:exactMatch hgnc:MIR15B semapv:UnspecifiedMatching +OMIM:619572 MIR15B skos:exactMatch hgnc.symbol:31544 semapv:UnspecifiedMatching +OMIM:619572 MIR15B skos:exactMatch hgnc.symbol:MIR15B semapv:UnspecifiedMatching OMIM:619572 MIR15B skos:exactMatch ncbigene:406949 semapv:UnspecifiedMatching -OMIM:619577 ZGPAT skos:exactMatch hgnc:ZGPAT semapv:UnspecifiedMatching +OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:15948 semapv:UnspecifiedMatching +OMIM:619577 ZGPAT skos:exactMatch hgnc.symbol:ZGPAT semapv:UnspecifiedMatching OMIM:619577 ZGPAT skos:exactMatch ncbigene:84619 semapv:UnspecifiedMatching -OMIM:619578 AFG2B skos:exactMatch hgnc:AFG2B semapv:UnspecifiedMatching +OMIM:619578 AFG2B skos:exactMatch hgnc.symbol:AFG2B semapv:UnspecifiedMatching OMIM:619578 AFG2B skos:exactMatch ncbigene:79029 semapv:UnspecifiedMatching -OMIM:619579 KHNYN skos:exactMatch hgnc:KHNYN semapv:UnspecifiedMatching +OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:20166 semapv:UnspecifiedMatching +OMIM:619579 KHNYN skos:exactMatch hgnc.symbol:KHNYN semapv:UnspecifiedMatching OMIM:619579 KHNYN skos:exactMatch ncbigene:23351 semapv:UnspecifiedMatching -OMIM:619581 SLC45A4 skos:exactMatch hgnc:SLC45A4 semapv:UnspecifiedMatching +OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:29196 semapv:UnspecifiedMatching +OMIM:619581 SLC45A4 skos:exactMatch hgnc.symbol:SLC45A4 semapv:UnspecifiedMatching OMIM:619581 SLC45A4 skos:exactMatch ncbigene:57210 semapv:UnspecifiedMatching -OMIM:619583 EHBP1L1 skos:exactMatch hgnc:EHBP1L1 semapv:UnspecifiedMatching +OMIM:619583 EHBP1L1 skos:exactMatch hgnc.symbol:30682 semapv:UnspecifiedMatching +OMIM:619583 EHBP1L1 skos:exactMatch hgnc.symbol:EHBP1L1 semapv:UnspecifiedMatching OMIM:619583 EHBP1L1 skos:exactMatch ncbigene:254102 semapv:UnspecifiedMatching -OMIM:619584 WSCD1 skos:exactMatch hgnc:WSCD1 semapv:UnspecifiedMatching +OMIM:619584 WSCD1 skos:exactMatch hgnc.symbol:29060 semapv:UnspecifiedMatching +OMIM:619584 WSCD1 skos:exactMatch hgnc.symbol:WSCD1 semapv:UnspecifiedMatching OMIM:619584 WSCD1 skos:exactMatch ncbigene:23302 semapv:UnspecifiedMatching -OMIM:619586 TSPYL4 skos:exactMatch hgnc:TSPYL4 semapv:UnspecifiedMatching +OMIM:619586 TSPYL4 skos:exactMatch hgnc.symbol:21559 semapv:UnspecifiedMatching +OMIM:619586 TSPYL4 skos:exactMatch hgnc.symbol:TSPYL4 semapv:UnspecifiedMatching OMIM:619586 TSPYL4 skos:exactMatch ncbigene:23270 semapv:UnspecifiedMatching -OMIM:619587 ZNF629 skos:exactMatch hgnc:ZNF629 semapv:UnspecifiedMatching +OMIM:619587 ZNF629 skos:exactMatch hgnc.symbol:29008 semapv:UnspecifiedMatching +OMIM:619587 ZNF629 skos:exactMatch hgnc.symbol:ZNF629 semapv:UnspecifiedMatching OMIM:619587 ZNF629 skos:exactMatch ncbigene:23361 semapv:UnspecifiedMatching -OMIM:619589 BANCR skos:exactMatch hgnc:BANCR semapv:UnspecifiedMatching +OMIM:619589 BANCR skos:exactMatch hgnc.symbol:43877 semapv:UnspecifiedMatching +OMIM:619589 BANCR skos:exactMatch hgnc.symbol:BANCR semapv:UnspecifiedMatching OMIM:619589 BANCR skos:exactMatch ncbigene:100885775 semapv:UnspecifiedMatching -OMIM:619590 PLPPR1 skos:exactMatch hgnc:PLPPR1 semapv:UnspecifiedMatching +OMIM:619590 PLPPR1 skos:exactMatch hgnc.symbol:25993 semapv:UnspecifiedMatching +OMIM:619590 PLPPR1 skos:exactMatch hgnc.symbol:PLPPR1 semapv:UnspecifiedMatching OMIM:619590 PLPPR1 skos:exactMatch ncbigene:54886 semapv:UnspecifiedMatching -OMIM:619591 PLPPR2 skos:exactMatch hgnc:PLPPR2 semapv:UnspecifiedMatching +OMIM:619591 PLPPR2 skos:exactMatch hgnc.symbol:29566 semapv:UnspecifiedMatching +OMIM:619591 PLPPR2 skos:exactMatch hgnc.symbol:PLPPR2 semapv:UnspecifiedMatching OMIM:619591 PLPPR2 skos:exactMatch ncbigene:64748 semapv:UnspecifiedMatching -OMIM:619596 OCIAD1 skos:exactMatch hgnc:OCIAD1 semapv:UnspecifiedMatching +OMIM:619596 OCIAD1 skos:exactMatch hgnc.symbol:16074 semapv:UnspecifiedMatching +OMIM:619596 OCIAD1 skos:exactMatch hgnc.symbol:OCIAD1 semapv:UnspecifiedMatching OMIM:619596 OCIAD1 skos:exactMatch ncbigene:54940 semapv:UnspecifiedMatching -OMIM:619597 TRNAU1AP skos:exactMatch hgnc:TRNAU1AP semapv:UnspecifiedMatching +OMIM:619597 TRNAU1AP skos:exactMatch hgnc.symbol:30813 semapv:UnspecifiedMatching +OMIM:619597 TRNAU1AP skos:exactMatch hgnc.symbol:TRNAU1AP semapv:UnspecifiedMatching OMIM:619597 TRNAU1AP skos:exactMatch ncbigene:54952 semapv:UnspecifiedMatching -OMIM:619600 AOPEP skos:exactMatch hgnc:AOPEP semapv:UnspecifiedMatching +OMIM:619600 AOPEP skos:exactMatch hgnc.symbol:1361 semapv:UnspecifiedMatching +OMIM:619600 AOPEP skos:exactMatch hgnc.symbol:AOPEP semapv:UnspecifiedMatching OMIM:619600 AOPEP skos:exactMatch ncbigene:84909 semapv:UnspecifiedMatching -OMIM:619601 BCDIN3D skos:exactMatch hgnc:BCDIN3D semapv:UnspecifiedMatching +OMIM:619601 BCDIN3D skos:exactMatch hgnc.symbol:27050 semapv:UnspecifiedMatching +OMIM:619601 BCDIN3D skos:exactMatch hgnc.symbol:BCDIN3D semapv:UnspecifiedMatching OMIM:619601 BCDIN3D skos:exactMatch ncbigene:144233 semapv:UnspecifiedMatching -OMIM:619604 TMEM92 skos:exactMatch hgnc:TMEM92 semapv:UnspecifiedMatching +OMIM:619604 TMEM92 skos:exactMatch hgnc.symbol:26579 semapv:UnspecifiedMatching +OMIM:619604 TMEM92 skos:exactMatch hgnc.symbol:TMEM92 semapv:UnspecifiedMatching OMIM:619604 TMEM92 skos:exactMatch ncbigene:162461 semapv:UnspecifiedMatching -OMIM:619610 KIF19 skos:exactMatch hgnc:KIF19 semapv:UnspecifiedMatching +OMIM:619610 KIF19 skos:exactMatch hgnc.symbol:26735 semapv:UnspecifiedMatching +OMIM:619610 KIF19 skos:exactMatch hgnc.symbol:KIF19 semapv:UnspecifiedMatching OMIM:619610 KIF19 skos:exactMatch ncbigene:124602 semapv:UnspecifiedMatching -OMIM:619612 BCAP29 skos:exactMatch hgnc:BCAP29 semapv:UnspecifiedMatching +OMIM:619612 BCAP29 skos:exactMatch hgnc.symbol:24131 semapv:UnspecifiedMatching +OMIM:619612 BCAP29 skos:exactMatch hgnc.symbol:BCAP29 semapv:UnspecifiedMatching OMIM:619612 BCAP29 skos:exactMatch ncbigene:55973 semapv:UnspecifiedMatching -OMIM:619617 EFCAB2 skos:exactMatch hgnc:EFCAB2 semapv:UnspecifiedMatching +OMIM:619617 EFCAB2 skos:exactMatch hgnc.symbol:28166 semapv:UnspecifiedMatching +OMIM:619617 EFCAB2 skos:exactMatch hgnc.symbol:EFCAB2 semapv:UnspecifiedMatching OMIM:619617 EFCAB2 skos:exactMatch ncbigene:84288 semapv:UnspecifiedMatching -OMIM:619618 LYPD5 skos:exactMatch hgnc:LYPD5 semapv:UnspecifiedMatching +OMIM:619618 LYPD5 skos:exactMatch hgnc.symbol:26397 semapv:UnspecifiedMatching +OMIM:619618 LYPD5 skos:exactMatch hgnc.symbol:LYPD5 semapv:UnspecifiedMatching OMIM:619618 LYPD5 skos:exactMatch ncbigene:284348 semapv:UnspecifiedMatching -OMIM:619619 SERPINA11 skos:exactMatch hgnc:SERPINA11 semapv:UnspecifiedMatching +OMIM:619619 SERPINA11 skos:exactMatch hgnc.symbol:19193 semapv:UnspecifiedMatching +OMIM:619619 SERPINA11 skos:exactMatch hgnc.symbol:SERPINA11 semapv:UnspecifiedMatching OMIM:619619 SERPINA11 skos:exactMatch ncbigene:256394 semapv:UnspecifiedMatching -OMIM:619620 CTRB2 skos:exactMatch hgnc:CTRB2 semapv:UnspecifiedMatching +OMIM:619620 CTRB2 skos:exactMatch hgnc.symbol:2522 semapv:UnspecifiedMatching +OMIM:619620 CTRB2 skos:exactMatch hgnc.symbol:CTRB2 semapv:UnspecifiedMatching OMIM:619620 CTRB2 skos:exactMatch ncbigene:440387 semapv:UnspecifiedMatching -OMIM:619622 LAX1 skos:exactMatch hgnc:LAX1 semapv:UnspecifiedMatching +OMIM:619622 LAX1 skos:exactMatch hgnc.symbol:26005 semapv:UnspecifiedMatching +OMIM:619622 LAX1 skos:exactMatch hgnc.symbol:LAX1 semapv:UnspecifiedMatching OMIM:619622 LAX1 skos:exactMatch ncbigene:54900 semapv:UnspecifiedMatching -OMIM:619623 LRRN1 skos:exactMatch hgnc:LRRN1 semapv:UnspecifiedMatching +OMIM:619623 LRRN1 skos:exactMatch hgnc.symbol:20980 semapv:UnspecifiedMatching +OMIM:619623 LRRN1 skos:exactMatch hgnc.symbol:LRRN1 semapv:UnspecifiedMatching OMIM:619623 LRRN1 skos:exactMatch ncbigene:57633 semapv:UnspecifiedMatching -OMIM:619624 LMTK3 skos:exactMatch hgnc:LMTK3 semapv:UnspecifiedMatching +OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:19295 semapv:UnspecifiedMatching +OMIM:619624 LMTK3 skos:exactMatch hgnc.symbol:LMTK3 semapv:UnspecifiedMatching OMIM:619624 LMTK3 skos:exactMatch ncbigene:114783 semapv:UnspecifiedMatching -OMIM:619625 C11ORF58 skos:exactMatch hgnc:C11orf58 semapv:UnspecifiedMatching +OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:16990 semapv:UnspecifiedMatching +OMIM:619625 C11ORF58 skos:exactMatch hgnc.symbol:C11orf58 semapv:UnspecifiedMatching OMIM:619625 C11ORF58 skos:exactMatch ncbigene:10944 semapv:UnspecifiedMatching -OMIM:619626 METTL4 skos:exactMatch hgnc:METTL4 semapv:UnspecifiedMatching +OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:24726 semapv:UnspecifiedMatching +OMIM:619626 METTL4 skos:exactMatch hgnc.symbol:METTL4 semapv:UnspecifiedMatching OMIM:619626 METTL4 skos:exactMatch ncbigene:64863 semapv:UnspecifiedMatching -OMIM:619627 HEATR5B skos:exactMatch hgnc:HEATR5B semapv:UnspecifiedMatching +OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:29273 semapv:UnspecifiedMatching +OMIM:619627 HEATR5B skos:exactMatch hgnc.symbol:HEATR5B semapv:UnspecifiedMatching OMIM:619627 HEATR5B skos:exactMatch ncbigene:54497 semapv:UnspecifiedMatching -OMIM:619628 AFTPH skos:exactMatch hgnc:AFTPH semapv:UnspecifiedMatching +OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:25951 semapv:UnspecifiedMatching +OMIM:619628 AFTPH skos:exactMatch hgnc.symbol:AFTPH semapv:UnspecifiedMatching OMIM:619628 AFTPH skos:exactMatch ncbigene:54812 semapv:UnspecifiedMatching -OMIM:619629 SNRNP27 skos:exactMatch hgnc:SNRNP27 semapv:UnspecifiedMatching +OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:30240 semapv:UnspecifiedMatching +OMIM:619629 SNRNP27 skos:exactMatch hgnc.symbol:SNRNP27 semapv:UnspecifiedMatching OMIM:619629 SNRNP27 skos:exactMatch ncbigene:11017 semapv:UnspecifiedMatching -OMIM:619631 SNRNP35 skos:exactMatch hgnc:SNRNP35 semapv:UnspecifiedMatching +OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:30852 semapv:UnspecifiedMatching +OMIM:619631 SNRNP35 skos:exactMatch hgnc.symbol:SNRNP35 semapv:UnspecifiedMatching OMIM:619631 SNRNP35 skos:exactMatch ncbigene:11066 semapv:UnspecifiedMatching -OMIM:619633 OCIAD2 skos:exactMatch hgnc:OCIAD2 semapv:UnspecifiedMatching +OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:28685 semapv:UnspecifiedMatching +OMIM:619633 OCIAD2 skos:exactMatch hgnc.symbol:OCIAD2 semapv:UnspecifiedMatching OMIM:619633 OCIAD2 skos:exactMatch ncbigene:132299 semapv:UnspecifiedMatching -OMIM:619634 OSGEPL1 skos:exactMatch hgnc:OSGEPL1 semapv:UnspecifiedMatching +OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:23075 semapv:UnspecifiedMatching +OMIM:619634 OSGEPL1 skos:exactMatch hgnc.symbol:OSGEPL1 semapv:UnspecifiedMatching OMIM:619634 OSGEPL1 skos:exactMatch ncbigene:64172 semapv:UnspecifiedMatching -OMIM:619635 ZFYVE19 skos:exactMatch hgnc:ZFYVE19 semapv:UnspecifiedMatching +OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:20758 semapv:UnspecifiedMatching +OMIM:619635 ZFYVE19 skos:exactMatch hgnc.symbol:ZFYVE19 semapv:UnspecifiedMatching OMIM:619635 ZFYVE19 skos:exactMatch ncbigene:84936 semapv:UnspecifiedMatching -OMIM:619640 KDM7A skos:exactMatch hgnc:KDM7A semapv:UnspecifiedMatching +OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:22224 semapv:UnspecifiedMatching +OMIM:619640 KDM7A skos:exactMatch hgnc.symbol:KDM7A semapv:UnspecifiedMatching OMIM:619640 KDM7A skos:exactMatch ncbigene:80853 semapv:UnspecifiedMatching -OMIM:619642 TMED2 skos:exactMatch hgnc:TMED2 semapv:UnspecifiedMatching +OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:16996 semapv:UnspecifiedMatching +OMIM:619642 TMED2 skos:exactMatch hgnc.symbol:TMED2 semapv:UnspecifiedMatching OMIM:619642 TMED2 skos:exactMatch ncbigene:10959 semapv:UnspecifiedMatching -OMIM:619650 VHLL skos:exactMatch hgnc:VHLL semapv:UnspecifiedMatching +OMIM:619650 VHLL skos:exactMatch hgnc.symbol:30666 semapv:UnspecifiedMatching +OMIM:619650 VHLL skos:exactMatch hgnc.symbol:VHLL semapv:UnspecifiedMatching OMIM:619650 VHLL skos:exactMatch ncbigene:391104 semapv:UnspecifiedMatching -OMIM:619654 C3ORF33 skos:exactMatch hgnc:C3orf33 semapv:UnspecifiedMatching +OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:26434 semapv:UnspecifiedMatching +OMIM:619654 C3ORF33 skos:exactMatch hgnc.symbol:C3orf33 semapv:UnspecifiedMatching OMIM:619654 C3ORF33 skos:exactMatch ncbigene:285315 semapv:UnspecifiedMatching -OMIM:619655 RPL10L skos:exactMatch hgnc:RPL10L semapv:UnspecifiedMatching +OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:17976 semapv:UnspecifiedMatching +OMIM:619655 RPL10L skos:exactMatch hgnc.symbol:RPL10L semapv:UnspecifiedMatching OMIM:619655 RPL10L skos:exactMatch ncbigene:140801 semapv:UnspecifiedMatching -OMIM:619659 SNAP47 skos:exactMatch hgnc:SNAP47 semapv:UnspecifiedMatching +OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:30669 semapv:UnspecifiedMatching +OMIM:619659 SNAP47 skos:exactMatch hgnc.symbol:SNAP47 semapv:UnspecifiedMatching OMIM:619659 SNAP47 skos:exactMatch ncbigene:116841 semapv:UnspecifiedMatching -OMIM:619660 BCL2L15 skos:exactMatch hgnc:BCL2L15 semapv:UnspecifiedMatching +OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:33624 semapv:UnspecifiedMatching +OMIM:619660 BCL2L15 skos:exactMatch hgnc.symbol:BCL2L15 semapv:UnspecifiedMatching OMIM:619660 BCL2L15 skos:exactMatch ncbigene:440603 semapv:UnspecifiedMatching -OMIM:619663 UTP25 skos:exactMatch hgnc:UTP25 semapv:UnspecifiedMatching +OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:28440 semapv:UnspecifiedMatching +OMIM:619663 UTP25 skos:exactMatch hgnc.symbol:UTP25 semapv:UnspecifiedMatching OMIM:619663 UTP25 skos:exactMatch ncbigene:27042 semapv:UnspecifiedMatching -OMIM:619664 EFCAB6 skos:exactMatch hgnc:EFCAB6 semapv:UnspecifiedMatching +OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:24204 semapv:UnspecifiedMatching +OMIM:619664 EFCAB6 skos:exactMatch hgnc.symbol:EFCAB6 semapv:UnspecifiedMatching OMIM:619664 EFCAB6 skos:exactMatch ncbigene:64800 semapv:UnspecifiedMatching -OMIM:619666 VILL skos:exactMatch hgnc:VILL semapv:UnspecifiedMatching +OMIM:619666 VILL skos:exactMatch hgnc.symbol:30906 semapv:UnspecifiedMatching +OMIM:619666 VILL skos:exactMatch hgnc.symbol:VILL semapv:UnspecifiedMatching OMIM:619666 VILL skos:exactMatch ncbigene:50853 semapv:UnspecifiedMatching -OMIM:619667 SLC35F6 skos:exactMatch hgnc:SLC35F6 semapv:UnspecifiedMatching +OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:26055 semapv:UnspecifiedMatching +OMIM:619667 SLC35F6 skos:exactMatch hgnc.symbol:SLC35F6 semapv:UnspecifiedMatching OMIM:619667 SLC35F6 skos:exactMatch ncbigene:54978 semapv:UnspecifiedMatching -OMIM:619668 DERA skos:exactMatch hgnc:DERA semapv:UnspecifiedMatching +OMIM:619668 DERA skos:exactMatch hgnc.symbol:24269 semapv:UnspecifiedMatching +OMIM:619668 DERA skos:exactMatch hgnc.symbol:DERA semapv:UnspecifiedMatching OMIM:619668 DERA skos:exactMatch ncbigene:51071 semapv:UnspecifiedMatching -OMIM:619669 PIERCE2 skos:exactMatch hgnc:PIERCE2 semapv:UnspecifiedMatching +OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:44654 semapv:UnspecifiedMatching +OMIM:619669 PIERCE2 skos:exactMatch hgnc.symbol:PIERCE2 semapv:UnspecifiedMatching OMIM:619669 PIERCE2 skos:exactMatch ncbigene:145788 semapv:UnspecifiedMatching -OMIM:619670 ALKAL1 skos:exactMatch hgnc:ALKAL1 semapv:UnspecifiedMatching +OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:33775 semapv:UnspecifiedMatching +OMIM:619670 ALKAL1 skos:exactMatch hgnc.symbol:ALKAL1 semapv:UnspecifiedMatching OMIM:619670 ALKAL1 skos:exactMatch ncbigene:389658 semapv:UnspecifiedMatching -OMIM:619671 ALKAL2 skos:exactMatch hgnc:ALKAL2 semapv:UnspecifiedMatching +OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:27683 semapv:UnspecifiedMatching +OMIM:619671 ALKAL2 skos:exactMatch hgnc.symbol:ALKAL2 semapv:UnspecifiedMatching OMIM:619671 ALKAL2 skos:exactMatch ncbigene:285016 semapv:UnspecifiedMatching -OMIM:619674 PRADC1 skos:exactMatch hgnc:PRADC1 semapv:UnspecifiedMatching +OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:16047 semapv:UnspecifiedMatching +OMIM:619674 PRADC1 skos:exactMatch hgnc.symbol:PRADC1 semapv:UnspecifiedMatching OMIM:619674 PRADC1 skos:exactMatch ncbigene:84279 semapv:UnspecifiedMatching -OMIM:619675 UBOX5 skos:exactMatch hgnc:UBOX5 semapv:UnspecifiedMatching +OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:17777 semapv:UnspecifiedMatching +OMIM:619675 UBOX5 skos:exactMatch hgnc.symbol:UBOX5 semapv:UnspecifiedMatching OMIM:619675 UBOX5 skos:exactMatch ncbigene:22888 semapv:UnspecifiedMatching -OMIM:619676 TEX37 skos:exactMatch hgnc:SPMIP9 semapv:UnspecifiedMatching +OMIM:619676 TEX37 skos:exactMatch hgnc.symbol:SPMIP9 semapv:UnspecifiedMatching OMIM:619676 TEX37 skos:exactMatch ncbigene:200523 semapv:UnspecifiedMatching -OMIM:619677 CLDND1 skos:exactMatch hgnc:CLDND1 semapv:UnspecifiedMatching +OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:1322 semapv:UnspecifiedMatching +OMIM:619677 CLDND1 skos:exactMatch hgnc.symbol:CLDND1 semapv:UnspecifiedMatching OMIM:619677 CLDND1 skos:exactMatch ncbigene:56650 semapv:UnspecifiedMatching -OMIM:619678 C22ORF23 skos:exactMatch hgnc:C22orf23 semapv:UnspecifiedMatching +OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:18589 semapv:UnspecifiedMatching +OMIM:619678 C22ORF23 skos:exactMatch hgnc.symbol:C22orf23 semapv:UnspecifiedMatching OMIM:619678 C22ORF23 skos:exactMatch ncbigene:84645 semapv:UnspecifiedMatching -OMIM:619679 TSACC skos:exactMatch hgnc:TSACC semapv:UnspecifiedMatching +OMIM:619679 TSACC skos:exactMatch hgnc.symbol:30636 semapv:UnspecifiedMatching +OMIM:619679 TSACC skos:exactMatch hgnc.symbol:TSACC semapv:UnspecifiedMatching OMIM:619679 TSACC skos:exactMatch ncbigene:128229 semapv:UnspecifiedMatching -OMIM:619682 ATRAID skos:exactMatch hgnc:ATRAID semapv:UnspecifiedMatching +OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:24090 semapv:UnspecifiedMatching +OMIM:619682 ATRAID skos:exactMatch hgnc.symbol:ATRAID semapv:UnspecifiedMatching OMIM:619682 ATRAID skos:exactMatch ncbigene:51374 semapv:UnspecifiedMatching -OMIM:619683 BSPRY skos:exactMatch hgnc:BSPRY semapv:UnspecifiedMatching +OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:18232 semapv:UnspecifiedMatching +OMIM:619683 BSPRY skos:exactMatch hgnc.symbol:BSPRY semapv:UnspecifiedMatching OMIM:619683 BSPRY skos:exactMatch ncbigene:54836 semapv:UnspecifiedMatching -OMIM:619684 MGARP skos:exactMatch hgnc:MGARP semapv:UnspecifiedMatching +OMIM:619684 MGARP skos:exactMatch hgnc.symbol:29969 semapv:UnspecifiedMatching +OMIM:619684 MGARP skos:exactMatch hgnc.symbol:MGARP semapv:UnspecifiedMatching OMIM:619684 MGARP skos:exactMatch ncbigene:84709 semapv:UnspecifiedMatching -OMIM:619700 C1ORF127 skos:exactMatch hgnc:C1orf127 semapv:UnspecifiedMatching +OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:26730 semapv:UnspecifiedMatching +OMIM:619700 C1ORF127 skos:exactMatch hgnc.symbol:C1orf127 semapv:UnspecifiedMatching OMIM:619700 C1ORF127 skos:exactMatch ncbigene:148345 semapv:UnspecifiedMatching -OMIM:619703 CIROP skos:exactMatch hgnc:CIROP semapv:UnspecifiedMatching +OMIM:619703 CIROP skos:exactMatch hgnc.symbol:53647 semapv:UnspecifiedMatching +OMIM:619703 CIROP skos:exactMatch hgnc.symbol:CIROP semapv:UnspecifiedMatching OMIM:619703 CIROP skos:exactMatch ncbigene:100128908 semapv:UnspecifiedMatching -OMIM:619704 ZC3H15 skos:exactMatch hgnc:ZC3H15 semapv:UnspecifiedMatching +OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:29528 semapv:UnspecifiedMatching +OMIM:619704 ZC3H15 skos:exactMatch hgnc.symbol:ZC3H15 semapv:UnspecifiedMatching OMIM:619704 ZC3H15 skos:exactMatch ncbigene:55854 semapv:UnspecifiedMatching -OMIM:619706 LRRN4 skos:exactMatch hgnc:LRRN4 semapv:UnspecifiedMatching +OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:16208 semapv:UnspecifiedMatching +OMIM:619706 LRRN4 skos:exactMatch hgnc.symbol:LRRN4 semapv:UnspecifiedMatching OMIM:619706 LRRN4 skos:exactMatch ncbigene:164312 semapv:UnspecifiedMatching -OMIM:619709 KIAA0930 skos:exactMatch hgnc:KIAA0930 semapv:UnspecifiedMatching +OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:1314 semapv:UnspecifiedMatching +OMIM:619709 KIAA0930 skos:exactMatch hgnc.symbol:KIAA0930 semapv:UnspecifiedMatching OMIM:619709 KIAA0930 skos:exactMatch ncbigene:23313 semapv:UnspecifiedMatching -OMIM:619710 HAPLN4 skos:exactMatch hgnc:HAPLN4 semapv:UnspecifiedMatching +OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:31357 semapv:UnspecifiedMatching +OMIM:619710 HAPLN4 skos:exactMatch hgnc.symbol:HAPLN4 semapv:UnspecifiedMatching OMIM:619710 HAPLN4 skos:exactMatch ncbigene:404037 semapv:UnspecifiedMatching -OMIM:619711 C19ORF33 skos:exactMatch hgnc:C19orf33 semapv:UnspecifiedMatching +OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:16668 semapv:UnspecifiedMatching +OMIM:619711 C19ORF33 skos:exactMatch hgnc.symbol:C19orf33 semapv:UnspecifiedMatching OMIM:619711 C19ORF33 skos:exactMatch ncbigene:64073 semapv:UnspecifiedMatching -OMIM:619713 CDHR2 skos:exactMatch hgnc:CDHR2 semapv:UnspecifiedMatching +OMIM:619713 CDHR2 skos:exactMatch hgnc.symbol:18231 semapv:UnspecifiedMatching +OMIM:619713 CDHR2 skos:exactMatch hgnc.symbol:CDHR2 semapv:UnspecifiedMatching OMIM:619713 CDHR2 skos:exactMatch ncbigene:54825 semapv:UnspecifiedMatching -OMIM:619715 WIZ skos:exactMatch hgnc:WIZ semapv:UnspecifiedMatching +OMIM:619715 WIZ skos:exactMatch hgnc.symbol:30917 semapv:UnspecifiedMatching +OMIM:619715 WIZ skos:exactMatch hgnc.symbol:WIZ semapv:UnspecifiedMatching OMIM:619715 WIZ skos:exactMatch ncbigene:58525 semapv:UnspecifiedMatching -OMIM:619716 ACTR8 skos:exactMatch hgnc:ACTR8 semapv:UnspecifiedMatching +OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:14672 semapv:UnspecifiedMatching +OMIM:619716 ACTR8 skos:exactMatch hgnc.symbol:ACTR8 semapv:UnspecifiedMatching OMIM:619716 ACTR8 skos:exactMatch ncbigene:93973 semapv:UnspecifiedMatching -OMIM:619722 TMEM53 skos:exactMatch hgnc:TMEM53 semapv:UnspecifiedMatching +OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:26186 semapv:UnspecifiedMatching +OMIM:619722 TMEM53 skos:exactMatch hgnc.symbol:TMEM53 semapv:UnspecifiedMatching OMIM:619722 TMEM53 skos:exactMatch ncbigene:79639 semapv:UnspecifiedMatching -OMIM:619723 SCPEP1 skos:exactMatch hgnc:SCPEP1 semapv:UnspecifiedMatching +OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:29507 semapv:UnspecifiedMatching +OMIM:619723 SCPEP1 skos:exactMatch hgnc.symbol:SCPEP1 semapv:UnspecifiedMatching OMIM:619723 SCPEP1 skos:exactMatch ncbigene:59342 semapv:UnspecifiedMatching -OMIM:619726 HAPLN2 skos:exactMatch hgnc:HAPLN2 semapv:UnspecifiedMatching +OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:17410 semapv:UnspecifiedMatching +OMIM:619726 HAPLN2 skos:exactMatch hgnc.symbol:HAPLN2 semapv:UnspecifiedMatching OMIM:619726 HAPLN2 skos:exactMatch ncbigene:60484 semapv:UnspecifiedMatching -OMIM:619728 ABHD4 skos:exactMatch hgnc:ABHD4 semapv:UnspecifiedMatching +OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:20154 semapv:UnspecifiedMatching +OMIM:619728 ABHD4 skos:exactMatch hgnc.symbol:ABHD4 semapv:UnspecifiedMatching OMIM:619728 ABHD4 skos:exactMatch ncbigene:63874 semapv:UnspecifiedMatching -OMIM:619729 ACTR6 skos:exactMatch hgnc:ACTR6 semapv:UnspecifiedMatching +OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:24025 semapv:UnspecifiedMatching +OMIM:619729 ACTR6 skos:exactMatch hgnc.symbol:ACTR6 semapv:UnspecifiedMatching OMIM:619729 ACTR6 skos:exactMatch ncbigene:64431 semapv:UnspecifiedMatching -OMIM:619730 ACTR5 skos:exactMatch hgnc:ACTR5 semapv:UnspecifiedMatching +OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:14671 semapv:UnspecifiedMatching +OMIM:619730 ACTR5 skos:exactMatch hgnc.symbol:ACTR5 semapv:UnspecifiedMatching OMIM:619730 ACTR5 skos:exactMatch ncbigene:79913 semapv:UnspecifiedMatching -OMIM:619731 ACTR10 skos:exactMatch hgnc:ACTR10 semapv:UnspecifiedMatching +OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:17372 semapv:UnspecifiedMatching +OMIM:619731 ACTR10 skos:exactMatch hgnc.symbol:ACTR10 semapv:UnspecifiedMatching OMIM:619731 ACTR10 skos:exactMatch ncbigene:55860 semapv:UnspecifiedMatching -OMIM:619732 PXYLP1 skos:exactMatch hgnc:PXYLP1 semapv:UnspecifiedMatching +OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:26303 semapv:UnspecifiedMatching +OMIM:619732 PXYLP1 skos:exactMatch hgnc.symbol:PXYLP1 semapv:UnspecifiedMatching OMIM:619732 PXYLP1 skos:exactMatch ncbigene:92370 semapv:UnspecifiedMatching -OMIM:619734 EPDR1 skos:exactMatch hgnc:EPDR1 semapv:UnspecifiedMatching +OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:17572 semapv:UnspecifiedMatching +OMIM:619734 EPDR1 skos:exactMatch hgnc.symbol:EPDR1 semapv:UnspecifiedMatching OMIM:619734 EPDR1 skos:exactMatch ncbigene:54749 semapv:UnspecifiedMatching -OMIM:619739 ASNSD1 skos:exactMatch hgnc:ASNSD1 semapv:UnspecifiedMatching +OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:24910 semapv:UnspecifiedMatching +OMIM:619739 ASNSD1 skos:exactMatch hgnc.symbol:ASNSD1 semapv:UnspecifiedMatching OMIM:619739 ASNSD1 skos:exactMatch ncbigene:54529 semapv:UnspecifiedMatching -OMIM:619740 ASDURF skos:exactMatch hgnc:ASDURF semapv:UnspecifiedMatching +OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:53619 semapv:UnspecifiedMatching +OMIM:619740 ASDURF skos:exactMatch hgnc.symbol:ASDURF semapv:UnspecifiedMatching OMIM:619740 ASDURF skos:exactMatch ncbigene:110599588 semapv:UnspecifiedMatching -OMIM:619741 ZMAT5 skos:exactMatch hgnc:ZMAT5 semapv:UnspecifiedMatching +OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:28046 semapv:UnspecifiedMatching +OMIM:619741 ZMAT5 skos:exactMatch hgnc.symbol:ZMAT5 semapv:UnspecifiedMatching OMIM:619741 ZMAT5 skos:exactMatch ncbigene:55954 semapv:UnspecifiedMatching -OMIM:619744 ZCCHC17 skos:exactMatch hgnc:ZCCHC17 semapv:UnspecifiedMatching +OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:30246 semapv:UnspecifiedMatching +OMIM:619744 ZCCHC17 skos:exactMatch hgnc.symbol:ZCCHC17 semapv:UnspecifiedMatching OMIM:619744 ZCCHC17 skos:exactMatch ncbigene:51538 semapv:UnspecifiedMatching -OMIM:619746 ZC3HC1 skos:exactMatch hgnc:ZC3HC1 semapv:UnspecifiedMatching +OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:29913 semapv:UnspecifiedMatching +OMIM:619746 ZC3HC1 skos:exactMatch hgnc.symbol:ZC3HC1 semapv:UnspecifiedMatching OMIM:619746 ZC3HC1 skos:exactMatch ncbigene:51530 semapv:UnspecifiedMatching -OMIM:619748 LRRN3 skos:exactMatch hgnc:LRRN3 semapv:UnspecifiedMatching +OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:17200 semapv:UnspecifiedMatching +OMIM:619748 LRRN3 skos:exactMatch hgnc.symbol:LRRN3 semapv:UnspecifiedMatching OMIM:619748 LRRN3 skos:exactMatch ncbigene:54674 semapv:UnspecifiedMatching -OMIM:619749 VEZT skos:exactMatch hgnc:VEZT semapv:UnspecifiedMatching +OMIM:619749 VEZT skos:exactMatch hgnc.symbol:18258 semapv:UnspecifiedMatching +OMIM:619749 VEZT skos:exactMatch hgnc.symbol:VEZT semapv:UnspecifiedMatching OMIM:619749 VEZT skos:exactMatch ncbigene:55591 semapv:UnspecifiedMatching -OMIM:619753 PYM1 skos:exactMatch hgnc:PYM1 semapv:UnspecifiedMatching +OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:30258 semapv:UnspecifiedMatching +OMIM:619753 PYM1 skos:exactMatch hgnc.symbol:PYM1 semapv:UnspecifiedMatching OMIM:619753 PYM1 skos:exactMatch ncbigene:84305 semapv:UnspecifiedMatching -OMIM:619754 YIPF7 skos:exactMatch hgnc:YIPF7 semapv:UnspecifiedMatching +OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:26825 semapv:UnspecifiedMatching +OMIM:619754 YIPF7 skos:exactMatch hgnc.symbol:YIPF7 semapv:UnspecifiedMatching OMIM:619754 YIPF7 skos:exactMatch ncbigene:285525 semapv:UnspecifiedMatching -OMIM:619756 UBE2J2 skos:exactMatch hgnc:UBE2J2 semapv:UnspecifiedMatching +OMIM:619756 UBE2J2 skos:exactMatch hgnc.symbol:19268 semapv:UnspecifiedMatching +OMIM:619756 UBE2J2 skos:exactMatch hgnc.symbol:UBE2J2 semapv:UnspecifiedMatching OMIM:619756 UBE2J2 skos:exactMatch ncbigene:118424 semapv:UnspecifiedMatching -OMIM:619757 ASB15 skos:exactMatch hgnc:ASB15 semapv:UnspecifiedMatching +OMIM:619757 ASB15 skos:exactMatch hgnc.symbol:19767 semapv:UnspecifiedMatching +OMIM:619757 ASB15 skos:exactMatch hgnc.symbol:ASB15 semapv:UnspecifiedMatching OMIM:619757 ASB15 skos:exactMatch ncbigene:142685 semapv:UnspecifiedMatching -OMIM:619760 ATP23 skos:exactMatch hgnc:ATP23 semapv:UnspecifiedMatching +OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:29452 semapv:UnspecifiedMatching +OMIM:619760 ATP23 skos:exactMatch hgnc.symbol:ATP23 semapv:UnspecifiedMatching OMIM:619760 ATP23 skos:exactMatch ncbigene:91419 semapv:UnspecifiedMatching -OMIM:619763 WDTC1 skos:exactMatch hgnc:WDTC1 semapv:UnspecifiedMatching +OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:29175 semapv:UnspecifiedMatching +OMIM:619763 WDTC1 skos:exactMatch hgnc.symbol:WDTC1 semapv:UnspecifiedMatching OMIM:619763 WDTC1 skos:exactMatch ncbigene:23038 semapv:UnspecifiedMatching -OMIM:619765 CRYBG2 skos:exactMatch hgnc:CRYBG2 semapv:UnspecifiedMatching +OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:17295 semapv:UnspecifiedMatching +OMIM:619765 CRYBG2 skos:exactMatch hgnc.symbol:CRYBG2 semapv:UnspecifiedMatching OMIM:619765 CRYBG2 skos:exactMatch ncbigene:55057 semapv:UnspecifiedMatching -OMIM:619766 YLPM1 skos:exactMatch hgnc:YLPM1 semapv:UnspecifiedMatching +OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:17798 semapv:UnspecifiedMatching +OMIM:619766 YLPM1 skos:exactMatch hgnc.symbol:YLPM1 semapv:UnspecifiedMatching OMIM:619766 YLPM1 skos:exactMatch ncbigene:56252 semapv:UnspecifiedMatching -OMIM:619768 ARRDC1 skos:exactMatch hgnc:ARRDC1 semapv:UnspecifiedMatching +OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:28633 semapv:UnspecifiedMatching +OMIM:619768 ARRDC1 skos:exactMatch hgnc.symbol:ARRDC1 semapv:UnspecifiedMatching OMIM:619768 ARRDC1 skos:exactMatch ncbigene:92714 semapv:UnspecifiedMatching -OMIM:619770 YDJC skos:exactMatch hgnc:YDJC semapv:UnspecifiedMatching +OMIM:619770 YDJC skos:exactMatch hgnc.symbol:27158 semapv:UnspecifiedMatching +OMIM:619770 YDJC skos:exactMatch hgnc.symbol:YDJC semapv:UnspecifiedMatching OMIM:619770 YDJC skos:exactMatch ncbigene:150223 semapv:UnspecifiedMatching -OMIM:619771 VRK3 skos:exactMatch hgnc:VRK3 semapv:UnspecifiedMatching +OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:18996 semapv:UnspecifiedMatching +OMIM:619771 VRK3 skos:exactMatch hgnc.symbol:VRK3 semapv:UnspecifiedMatching OMIM:619771 VRK3 skos:exactMatch ncbigene:51231 semapv:UnspecifiedMatching -OMIM:619772 PAAF1 skos:exactMatch hgnc:PAAF1 semapv:UnspecifiedMatching +OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:25687 semapv:UnspecifiedMatching +OMIM:619772 PAAF1 skos:exactMatch hgnc.symbol:PAAF1 semapv:UnspecifiedMatching OMIM:619772 PAAF1 skos:exactMatch ncbigene:80227 semapv:UnspecifiedMatching -OMIM:619776 C2CD6 skos:exactMatch hgnc:C2CD6 semapv:UnspecifiedMatching +OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:14438 semapv:UnspecifiedMatching +OMIM:619776 C2CD6 skos:exactMatch hgnc.symbol:C2CD6 semapv:UnspecifiedMatching OMIM:619776 C2CD6 skos:exactMatch ncbigene:151254 semapv:UnspecifiedMatching -OMIM:619778 ANKRD42 skos:exactMatch hgnc:ANKRD42 semapv:UnspecifiedMatching +OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:26752 semapv:UnspecifiedMatching +OMIM:619778 ANKRD42 skos:exactMatch hgnc.symbol:ANKRD42 semapv:UnspecifiedMatching OMIM:619778 ANKRD42 skos:exactMatch ncbigene:338699 semapv:UnspecifiedMatching -OMIM:619779 AFAP1AS1 skos:exactMatch hgnc:AFAP1-AS1 semapv:UnspecifiedMatching +OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:28141 semapv:UnspecifiedMatching +OMIM:619779 AFAP1AS1 skos:exactMatch hgnc.symbol:AFAP1-AS1 semapv:UnspecifiedMatching OMIM:619779 AFAP1AS1 skos:exactMatch ncbigene:84740 semapv:UnspecifiedMatching -OMIM:619782 SPACDR skos:exactMatch hgnc:SPACDR semapv:UnspecifiedMatching +OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:22135 semapv:UnspecifiedMatching +OMIM:619782 SPACDR skos:exactMatch hgnc.symbol:SPACDR semapv:UnspecifiedMatching OMIM:619782 SPACDR skos:exactMatch ncbigene:402573 semapv:UnspecifiedMatching -OMIM:619788 ARRDC4 skos:exactMatch hgnc:ARRDC4 semapv:UnspecifiedMatching +OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:28087 semapv:UnspecifiedMatching +OMIM:619788 ARRDC4 skos:exactMatch hgnc.symbol:ARRDC4 semapv:UnspecifiedMatching OMIM:619788 ARRDC4 skos:exactMatch ncbigene:91947 semapv:UnspecifiedMatching -OMIM:619791 ATP10B skos:exactMatch hgnc:ATP10B semapv:UnspecifiedMatching +OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:13543 semapv:UnspecifiedMatching +OMIM:619791 ATP10B skos:exactMatch hgnc.symbol:ATP10B semapv:UnspecifiedMatching OMIM:619791 ATP10B skos:exactMatch ncbigene:23120 semapv:UnspecifiedMatching -OMIM:619792 ATP5MF skos:exactMatch hgnc:ATP5MF semapv:UnspecifiedMatching +OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:848 semapv:UnspecifiedMatching +OMIM:619792 ATP5MF skos:exactMatch hgnc.symbol:ATP5MF semapv:UnspecifiedMatching OMIM:619792 ATP5MF skos:exactMatch ncbigene:9551 semapv:UnspecifiedMatching -OMIM:619794 VWC2L skos:exactMatch hgnc:VWC2L semapv:UnspecifiedMatching +OMIM:619794 VWC2L skos:exactMatch hgnc.symbol:37203 semapv:UnspecifiedMatching +OMIM:619794 VWC2L skos:exactMatch hgnc.symbol:VWC2L semapv:UnspecifiedMatching OMIM:619794 VWC2L skos:exactMatch ncbigene:402117 semapv:UnspecifiedMatching -OMIM:619796 FLACC1 skos:exactMatch hgnc:FLACC1 semapv:UnspecifiedMatching +OMIM:619796 FLACC1 skos:exactMatch hgnc.symbol:14439 semapv:UnspecifiedMatching +OMIM:619796 FLACC1 skos:exactMatch hgnc.symbol:FLACC1 semapv:UnspecifiedMatching OMIM:619796 FLACC1 skos:exactMatch ncbigene:130540 semapv:UnspecifiedMatching -OMIM:619798 ELF2 skos:exactMatch hgnc:ELF2 semapv:UnspecifiedMatching +OMIM:619798 ELF2 skos:exactMatch hgnc.symbol:3317 semapv:UnspecifiedMatching +OMIM:619798 ELF2 skos:exactMatch hgnc.symbol:ELF2 semapv:UnspecifiedMatching OMIM:619798 ELF2 skos:exactMatch ncbigene:1998 semapv:UnspecifiedMatching -OMIM:619800 HMGXB3 skos:exactMatch hgnc:HMGXB3 semapv:UnspecifiedMatching +OMIM:619800 HMGXB3 skos:exactMatch hgnc.symbol:28982 semapv:UnspecifiedMatching +OMIM:619800 HMGXB3 skos:exactMatch hgnc.symbol:HMGXB3 semapv:UnspecifiedMatching OMIM:619800 HMGXB3 skos:exactMatch ncbigene:22993 semapv:UnspecifiedMatching -OMIM:619801 POLR3H skos:exactMatch hgnc:POLR3H semapv:UnspecifiedMatching +OMIM:619801 POLR3H skos:exactMatch hgnc.symbol:30349 semapv:UnspecifiedMatching +OMIM:619801 POLR3H skos:exactMatch hgnc.symbol:POLR3H semapv:UnspecifiedMatching OMIM:619801 POLR3H skos:exactMatch ncbigene:171568 semapv:UnspecifiedMatching -OMIM:619807 MYBPHL skos:exactMatch hgnc:MYBPHL semapv:UnspecifiedMatching +OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:30434 semapv:UnspecifiedMatching +OMIM:619807 MYBPHL skos:exactMatch hgnc.symbol:MYBPHL semapv:UnspecifiedMatching OMIM:619807 MYBPHL skos:exactMatch ncbigene:343263 semapv:UnspecifiedMatching -OMIM:619809 UGT2A2 skos:exactMatch hgnc:UGT2A2 semapv:UnspecifiedMatching +OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:28183 semapv:UnspecifiedMatching +OMIM:619809 UGT2A2 skos:exactMatch hgnc.symbol:UGT2A2 semapv:UnspecifiedMatching OMIM:619809 UGT2A2 skos:exactMatch ncbigene:574537 semapv:UnspecifiedMatching -OMIM:619811 UHRF1BP1L skos:exactMatch hgnc:BLTP3B semapv:UnspecifiedMatching +OMIM:619811 UHRF1BP1L skos:exactMatch hgnc.symbol:BLTP3B semapv:UnspecifiedMatching OMIM:619811 UHRF1BP1L skos:exactMatch ncbigene:23074 semapv:UnspecifiedMatching -OMIM:619815 ATP10D skos:exactMatch hgnc:ATP10D semapv:UnspecifiedMatching +OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:13549 semapv:UnspecifiedMatching +OMIM:619815 ATP10D skos:exactMatch hgnc.symbol:ATP10D semapv:UnspecifiedMatching OMIM:619815 ATP10D skos:exactMatch ncbigene:57205 semapv:UnspecifiedMatching -OMIM:619818 ELOF1 skos:exactMatch hgnc:ELOF1 semapv:UnspecifiedMatching +OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:28691 semapv:UnspecifiedMatching +OMIM:619818 ELOF1 skos:exactMatch hgnc.symbol:ELOF1 semapv:UnspecifiedMatching OMIM:619818 ELOF1 skos:exactMatch ncbigene:84337 semapv:UnspecifiedMatching -OMIM:619819 ZC3H7A skos:exactMatch hgnc:ZC3H7A semapv:UnspecifiedMatching +OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:30959 semapv:UnspecifiedMatching +OMIM:619819 ZC3H7A skos:exactMatch hgnc.symbol:ZC3H7A semapv:UnspecifiedMatching OMIM:619819 ZC3H7A skos:exactMatch ncbigene:29066 semapv:UnspecifiedMatching -OMIM:619820 ATOH8 skos:exactMatch hgnc:ATOH8 semapv:UnspecifiedMatching +OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:24126 semapv:UnspecifiedMatching +OMIM:619820 ATOH8 skos:exactMatch hgnc.symbol:ATOH8 semapv:UnspecifiedMatching OMIM:619820 ATOH8 skos:exactMatch ncbigene:84913 semapv:UnspecifiedMatching -OMIM:619821 ENDOV skos:exactMatch hgnc:ENDOV semapv:UnspecifiedMatching +OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:26640 semapv:UnspecifiedMatching +OMIM:619821 ENDOV skos:exactMatch hgnc.symbol:ENDOV semapv:UnspecifiedMatching OMIM:619821 ENDOV skos:exactMatch ncbigene:284131 semapv:UnspecifiedMatching -OMIM:619822 BCL2L13 skos:exactMatch hgnc:BCL2L13 semapv:UnspecifiedMatching +OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:17164 semapv:UnspecifiedMatching +OMIM:619822 BCL2L13 skos:exactMatch hgnc.symbol:BCL2L13 semapv:UnspecifiedMatching OMIM:619822 BCL2L13 skos:exactMatch ncbigene:23786 semapv:UnspecifiedMatching -OMIM:619823 ANP32B skos:exactMatch hgnc:ANP32B semapv:UnspecifiedMatching +OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:16677 semapv:UnspecifiedMatching +OMIM:619823 ANP32B skos:exactMatch hgnc.symbol:ANP32B semapv:UnspecifiedMatching OMIM:619823 ANP32B skos:exactMatch ncbigene:10541 semapv:UnspecifiedMatching -OMIM:619829 CCDC146 skos:exactMatch hgnc:CCDC146 semapv:UnspecifiedMatching +OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:29296 semapv:UnspecifiedMatching +OMIM:619829 CCDC146 skos:exactMatch hgnc.symbol:CCDC146 semapv:UnspecifiedMatching OMIM:619829 CCDC146 skos:exactMatch ncbigene:57639 semapv:UnspecifiedMatching -OMIM:619830 DBX1 skos:exactMatch hgnc:DBX1 semapv:UnspecifiedMatching +OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:33185 semapv:UnspecifiedMatching +OMIM:619830 DBX1 skos:exactMatch hgnc.symbol:DBX1 semapv:UnspecifiedMatching OMIM:619830 DBX1 skos:exactMatch ncbigene:120237 semapv:UnspecifiedMatching -OMIM:619837 MORN5 skos:exactMatch hgnc:MORN5 semapv:UnspecifiedMatching +OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:17841 semapv:UnspecifiedMatching +OMIM:619837 MORN5 skos:exactMatch hgnc.symbol:MORN5 semapv:UnspecifiedMatching OMIM:619837 MORN5 skos:exactMatch ncbigene:254956 semapv:UnspecifiedMatching -OMIM:619838 TTLL9 skos:exactMatch hgnc:TTLL9 semapv:UnspecifiedMatching +OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:16118 semapv:UnspecifiedMatching +OMIM:619838 TTLL9 skos:exactMatch hgnc.symbol:TTLL9 semapv:UnspecifiedMatching OMIM:619838 TTLL9 skos:exactMatch ncbigene:164395 semapv:UnspecifiedMatching -OMIM:619839 SNX31 skos:exactMatch hgnc:SNX31 semapv:UnspecifiedMatching +OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:28605 semapv:UnspecifiedMatching +OMIM:619839 SNX31 skos:exactMatch hgnc.symbol:SNX31 semapv:UnspecifiedMatching OMIM:619839 SNX31 skos:exactMatch ncbigene:169166 semapv:UnspecifiedMatching -OMIM:619842 RIPOR1 skos:exactMatch hgnc:RIPOR1 semapv:UnspecifiedMatching +OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:25836 semapv:UnspecifiedMatching +OMIM:619842 RIPOR1 skos:exactMatch hgnc.symbol:RIPOR1 semapv:UnspecifiedMatching OMIM:619842 RIPOR1 skos:exactMatch ncbigene:79567 semapv:UnspecifiedMatching -OMIM:619843 DENND4B skos:exactMatch hgnc:DENND4B semapv:UnspecifiedMatching +OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:29044 semapv:UnspecifiedMatching +OMIM:619843 DENND4B skos:exactMatch hgnc.symbol:DENND4B semapv:UnspecifiedMatching OMIM:619843 DENND4B skos:exactMatch ncbigene:9909 semapv:UnspecifiedMatching -OMIM:619848 TBCCD1 skos:exactMatch hgnc:TBCCD1 semapv:UnspecifiedMatching +OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:25546 semapv:UnspecifiedMatching +OMIM:619848 TBCCD1 skos:exactMatch hgnc.symbol:TBCCD1 semapv:UnspecifiedMatching OMIM:619848 TBCCD1 skos:exactMatch ncbigene:55171 semapv:UnspecifiedMatching -OMIM:619850 A3GALT2 skos:exactMatch hgnc:A3GALT2 semapv:UnspecifiedMatching +OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:30005 semapv:UnspecifiedMatching +OMIM:619850 A3GALT2 skos:exactMatch hgnc.symbol:A3GALT2 semapv:UnspecifiedMatching OMIM:619850 A3GALT2 skos:exactMatch ncbigene:127550 semapv:UnspecifiedMatching -OMIM:619852 GARIN4 skos:exactMatch hgnc:GARIN4 semapv:UnspecifiedMatching +OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:26541 semapv:UnspecifiedMatching +OMIM:619852 GARIN4 skos:exactMatch hgnc.symbol:GARIN4 semapv:UnspecifiedMatching OMIM:619852 GARIN4 skos:exactMatch ncbigene:149647 semapv:UnspecifiedMatching -OMIM:619853 FAXDC2 skos:exactMatch hgnc:FAXDC2 semapv:UnspecifiedMatching +OMIM:619853 FAXDC2 skos:exactMatch hgnc.symbol:1334 semapv:UnspecifiedMatching +OMIM:619853 FAXDC2 skos:exactMatch hgnc.symbol:FAXDC2 semapv:UnspecifiedMatching OMIM:619853 FAXDC2 skos:exactMatch ncbigene:10826 semapv:UnspecifiedMatching -OMIM:619856 ANKRD50 skos:exactMatch hgnc:ANKRD50 semapv:UnspecifiedMatching +OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:29223 semapv:UnspecifiedMatching +OMIM:619856 ANKRD50 skos:exactMatch hgnc.symbol:ANKRD50 semapv:UnspecifiedMatching OMIM:619856 ANKRD50 skos:exactMatch ncbigene:57182 semapv:UnspecifiedMatching -OMIM:619857 SPATA3 skos:exactMatch hgnc:SPATA3 semapv:UnspecifiedMatching +OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:17884 semapv:UnspecifiedMatching +OMIM:619857 SPATA3 skos:exactMatch hgnc.symbol:SPATA3 semapv:UnspecifiedMatching OMIM:619857 SPATA3 skos:exactMatch ncbigene:130560 semapv:UnspecifiedMatching -OMIM:619860 DCST1 skos:exactMatch hgnc:DCST1 semapv:UnspecifiedMatching +OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:26539 semapv:UnspecifiedMatching +OMIM:619860 DCST1 skos:exactMatch hgnc.symbol:DCST1 semapv:UnspecifiedMatching OMIM:619860 DCST1 skos:exactMatch ncbigene:149095 semapv:UnspecifiedMatching -OMIM:619861 DCST2 skos:exactMatch hgnc:DCST2 semapv:UnspecifiedMatching +OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:26562 semapv:UnspecifiedMatching +OMIM:619861 DCST2 skos:exactMatch hgnc.symbol:DCST2 semapv:UnspecifiedMatching OMIM:619861 DCST2 skos:exactMatch ncbigene:127579 semapv:UnspecifiedMatching -OMIM:619863 JPH4 skos:exactMatch hgnc:JPH4 semapv:UnspecifiedMatching +OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:20156 semapv:UnspecifiedMatching +OMIM:619863 JPH4 skos:exactMatch hgnc.symbol:JPH4 semapv:UnspecifiedMatching OMIM:619863 JPH4 skos:exactMatch ncbigene:84502 semapv:UnspecifiedMatching -OMIM:619865 TMEM14B skos:exactMatch hgnc:TMEM14B semapv:UnspecifiedMatching +OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:21384 semapv:UnspecifiedMatching +OMIM:619865 TMEM14B skos:exactMatch hgnc.symbol:TMEM14B semapv:UnspecifiedMatching OMIM:619865 TMEM14B skos:exactMatch ncbigene:81853 semapv:UnspecifiedMatching -OMIM:619866 CFAP97D1 skos:exactMatch hgnc:CFAP97D1 semapv:UnspecifiedMatching +OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:37241 semapv:UnspecifiedMatching +OMIM:619866 CFAP97D1 skos:exactMatch hgnc.symbol:CFAP97D1 semapv:UnspecifiedMatching OMIM:619866 CFAP97D1 skos:exactMatch ncbigene:284067 semapv:UnspecifiedMatching -OMIM:619870 CCDC82 skos:exactMatch hgnc:CCDC82 semapv:UnspecifiedMatching +OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:26282 semapv:UnspecifiedMatching +OMIM:619870 CCDC82 skos:exactMatch hgnc.symbol:CCDC82 semapv:UnspecifiedMatching OMIM:619870 CCDC82 skos:exactMatch ncbigene:79780 semapv:UnspecifiedMatching -OMIM:619875 SLCO1B7 skos:exactMatch hgnc:SLCO1B7 semapv:UnspecifiedMatching +OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:32934 semapv:UnspecifiedMatching +OMIM:619875 SLCO1B7 skos:exactMatch hgnc.symbol:SLCO1B7 semapv:UnspecifiedMatching OMIM:619875 SLCO1B7 skos:exactMatch ncbigene:338821 semapv:UnspecifiedMatching -OMIM:619882 TYW5 skos:exactMatch hgnc:TYW5 semapv:UnspecifiedMatching +OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:26754 semapv:UnspecifiedMatching +OMIM:619882 TYW5 skos:exactMatch hgnc.symbol:TYW5 semapv:UnspecifiedMatching OMIM:619882 TYW5 skos:exactMatch ncbigene:129450 semapv:UnspecifiedMatching -OMIM:619883 GARIN3 skos:exactMatch hgnc:GARIN3 semapv:UnspecifiedMatching +OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:28397 semapv:UnspecifiedMatching +OMIM:619883 GARIN3 skos:exactMatch hgnc.symbol:GARIN3 semapv:UnspecifiedMatching OMIM:619883 GARIN3 skos:exactMatch ncbigene:153745 semapv:UnspecifiedMatching -OMIM:619885 TTC39A skos:exactMatch hgnc:TTC39A semapv:UnspecifiedMatching +OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:18657 semapv:UnspecifiedMatching +OMIM:619885 TTC39A skos:exactMatch hgnc.symbol:TTC39A semapv:UnspecifiedMatching OMIM:619885 TTC39A skos:exactMatch ncbigene:22996 semapv:UnspecifiedMatching -OMIM:619886 R3HDM2 skos:exactMatch hgnc:R3HDM2 semapv:UnspecifiedMatching +OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:29167 semapv:UnspecifiedMatching +OMIM:619886 R3HDM2 skos:exactMatch hgnc.symbol:R3HDM2 semapv:UnspecifiedMatching OMIM:619886 R3HDM2 skos:exactMatch ncbigene:22864 semapv:UnspecifiedMatching -OMIM:619888 GHET1 skos:exactMatch hgnc:GHET1 semapv:UnspecifiedMatching +OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:49425 semapv:UnspecifiedMatching +OMIM:619888 GHET1 skos:exactMatch hgnc.symbol:GHET1 semapv:UnspecifiedMatching OMIM:619888 GHET1 skos:exactMatch ncbigene:102723099 semapv:UnspecifiedMatching -OMIM:619889 TCP11L2 skos:exactMatch hgnc:TCP11L2 semapv:UnspecifiedMatching +OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:28627 semapv:UnspecifiedMatching +OMIM:619889 TCP11L2 skos:exactMatch hgnc.symbol:TCP11L2 semapv:UnspecifiedMatching OMIM:619889 TCP11L2 skos:exactMatch ncbigene:255394 semapv:UnspecifiedMatching -OMIM:619890 GARIN5A skos:exactMatch hgnc:GARIN5A semapv:UnspecifiedMatching +OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:25107 semapv:UnspecifiedMatching +OMIM:619890 GARIN5A skos:exactMatch hgnc.symbol:GARIN5A semapv:UnspecifiedMatching OMIM:619890 GARIN5A skos:exactMatch ncbigene:112703 semapv:UnspecifiedMatching -OMIM:619891 WDR93 skos:exactMatch hgnc:WDR93 semapv:UnspecifiedMatching +OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:26924 semapv:UnspecifiedMatching +OMIM:619891 WDR93 skos:exactMatch hgnc.symbol:WDR93 semapv:UnspecifiedMatching OMIM:619891 WDR93 skos:exactMatch ncbigene:56964 semapv:UnspecifiedMatching -OMIM:619892 ZZZ3 skos:exactMatch hgnc:ZZZ3 semapv:UnspecifiedMatching +OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:24523 semapv:UnspecifiedMatching +OMIM:619892 ZZZ3 skos:exactMatch hgnc.symbol:ZZZ3 semapv:UnspecifiedMatching OMIM:619892 ZZZ3 skos:exactMatch ncbigene:26009 semapv:UnspecifiedMatching -OMIM:619893 KLHL25 skos:exactMatch hgnc:KLHL25 semapv:UnspecifiedMatching +OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:25732 semapv:UnspecifiedMatching +OMIM:619893 KLHL25 skos:exactMatch hgnc.symbol:KLHL25 semapv:UnspecifiedMatching OMIM:619893 KLHL25 skos:exactMatch ncbigene:64410 semapv:UnspecifiedMatching -OMIM:619894 ABHD15 skos:exactMatch hgnc:ABHD15 semapv:UnspecifiedMatching +OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:26971 semapv:UnspecifiedMatching +OMIM:619894 ABHD15 skos:exactMatch hgnc.symbol:ABHD15 semapv:UnspecifiedMatching OMIM:619894 ABHD15 skos:exactMatch ncbigene:116236 semapv:UnspecifiedMatching -OMIM:619896 MATCAP2 skos:exactMatch hgnc:MATCAP2 semapv:UnspecifiedMatching +OMIM:619896 MATCAP2 skos:exactMatch hgnc.symbol:MATCAP2 semapv:UnspecifiedMatching OMIM:619896 MATCAP2 skos:exactMatch ncbigene:23366 semapv:UnspecifiedMatching -OMIM:619898 GARIN2 skos:exactMatch hgnc:GARIN2 semapv:UnspecifiedMatching +OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:20101 semapv:UnspecifiedMatching +OMIM:619898 GARIN2 skos:exactMatch hgnc.symbol:GARIN2 semapv:UnspecifiedMatching OMIM:619898 GARIN2 skos:exactMatch ncbigene:161142 semapv:UnspecifiedMatching -OMIM:619899 NALF1 skos:exactMatch hgnc:NALF1 semapv:UnspecifiedMatching +OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:33877 semapv:UnspecifiedMatching +OMIM:619899 NALF1 skos:exactMatch hgnc.symbol:NALF1 semapv:UnspecifiedMatching OMIM:619899 NALF1 skos:exactMatch ncbigene:728215 semapv:UnspecifiedMatching -OMIM:619900 KDELR3 skos:exactMatch hgnc:KDELR3 semapv:UnspecifiedMatching +OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:6306 semapv:UnspecifiedMatching +OMIM:619900 KDELR3 skos:exactMatch hgnc.symbol:KDELR3 semapv:UnspecifiedMatching OMIM:619900 KDELR3 skos:exactMatch ncbigene:11015 semapv:UnspecifiedMatching -OMIM:619901 EIF1 skos:exactMatch hgnc:EIF1 semapv:UnspecifiedMatching +OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:3249 semapv:UnspecifiedMatching +OMIM:619901 EIF1 skos:exactMatch hgnc.symbol:EIF1 semapv:UnspecifiedMatching OMIM:619901 EIF1 skos:exactMatch ncbigene:10209 semapv:UnspecifiedMatching -OMIM:619904 GARIN1A skos:exactMatch hgnc:GARIN1A semapv:UnspecifiedMatching +OMIM:619904 GARIN1A skos:exactMatch hgnc.symbol:27998 semapv:UnspecifiedMatching +OMIM:619904 GARIN1A skos:exactMatch hgnc.symbol:GARIN1A semapv:UnspecifiedMatching OMIM:619904 GARIN1A skos:exactMatch ncbigene:346653 semapv:UnspecifiedMatching -OMIM:619905 GARIN1B skos:exactMatch hgnc:GARIN1B semapv:UnspecifiedMatching +OMIM:619905 GARIN1B skos:exactMatch hgnc.symbol:30704 semapv:UnspecifiedMatching +OMIM:619905 GARIN1B skos:exactMatch hgnc.symbol:GARIN1B semapv:UnspecifiedMatching OMIM:619905 GARIN1B skos:exactMatch ncbigene:84691 semapv:UnspecifiedMatching -OMIM:619906 DDX39A skos:exactMatch hgnc:DDX39A semapv:UnspecifiedMatching +OMIM:619906 DDX39A skos:exactMatch hgnc.symbol:17821 semapv:UnspecifiedMatching +OMIM:619906 DDX39A skos:exactMatch hgnc.symbol:DDX39A semapv:UnspecifiedMatching OMIM:619906 DDX39A skos:exactMatch ncbigene:10212 semapv:UnspecifiedMatching -OMIM:619907 PHF14 skos:exactMatch hgnc:PHF14 semapv:UnspecifiedMatching +OMIM:619907 PHF14 skos:exactMatch hgnc.symbol:22203 semapv:UnspecifiedMatching +OMIM:619907 PHF14 skos:exactMatch hgnc.symbol:PHF14 semapv:UnspecifiedMatching OMIM:619907 PHF14 skos:exactMatch ncbigene:9678 semapv:UnspecifiedMatching -OMIM:619912 MYMX skos:exactMatch hgnc:MYMX semapv:UnspecifiedMatching +OMIM:619912 MYMX skos:exactMatch hgnc.symbol:52391 semapv:UnspecifiedMatching +OMIM:619912 MYMX skos:exactMatch hgnc.symbol:MYMX semapv:UnspecifiedMatching OMIM:619912 MYMX skos:exactMatch ncbigene:101929726 semapv:UnspecifiedMatching -OMIM:619914 SEL1L3 skos:exactMatch hgnc:SEL1L3 semapv:UnspecifiedMatching +OMIM:619914 SEL1L3 skos:exactMatch hgnc.symbol:29108 semapv:UnspecifiedMatching +OMIM:619914 SEL1L3 skos:exactMatch hgnc.symbol:SEL1L3 semapv:UnspecifiedMatching OMIM:619914 SEL1L3 skos:exactMatch ncbigene:23231 semapv:UnspecifiedMatching -OMIM:619915 RBM34 skos:exactMatch hgnc:RBM34 semapv:UnspecifiedMatching +OMIM:619915 RBM34 skos:exactMatch hgnc.symbol:28965 semapv:UnspecifiedMatching +OMIM:619915 RBM34 skos:exactMatch hgnc.symbol:RBM34 semapv:UnspecifiedMatching OMIM:619915 RBM34 skos:exactMatch ncbigene:23029 semapv:UnspecifiedMatching -OMIM:619916 ZNF799 skos:exactMatch hgnc:ZNF799 semapv:UnspecifiedMatching +OMIM:619916 ZNF799 skos:exactMatch hgnc.symbol:28071 semapv:UnspecifiedMatching +OMIM:619916 ZNF799 skos:exactMatch hgnc.symbol:ZNF799 semapv:UnspecifiedMatching OMIM:619916 ZNF799 skos:exactMatch ncbigene:90576 semapv:UnspecifiedMatching -OMIM:619917 SUSD5 skos:exactMatch hgnc:SUSD5 semapv:UnspecifiedMatching +OMIM:619917 SUSD5 skos:exactMatch hgnc.symbol:29061 semapv:UnspecifiedMatching +OMIM:619917 SUSD5 skos:exactMatch hgnc.symbol:SUSD5 semapv:UnspecifiedMatching OMIM:619917 SUSD5 skos:exactMatch ncbigene:26032 semapv:UnspecifiedMatching -OMIM:619918 TUBA3E skos:exactMatch hgnc:TUBA3E semapv:UnspecifiedMatching +OMIM:619918 TUBA3E skos:exactMatch hgnc.symbol:20765 semapv:UnspecifiedMatching +OMIM:619918 TUBA3E skos:exactMatch hgnc.symbol:TUBA3E semapv:UnspecifiedMatching OMIM:619918 TUBA3E skos:exactMatch ncbigene:112714 semapv:UnspecifiedMatching -OMIM:619919 ARHGEF38 skos:exactMatch hgnc:ARHGEF38 semapv:UnspecifiedMatching +OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:25968 semapv:UnspecifiedMatching +OMIM:619919 ARHGEF38 skos:exactMatch hgnc.symbol:ARHGEF38 semapv:UnspecifiedMatching OMIM:619919 ARHGEF38 skos:exactMatch ncbigene:54848 semapv:UnspecifiedMatching -OMIM:619920 ANKDD1B skos:exactMatch hgnc:ANKDD1B semapv:UnspecifiedMatching +OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:32525 semapv:UnspecifiedMatching +OMIM:619920 ANKDD1B skos:exactMatch hgnc.symbol:ANKDD1B semapv:UnspecifiedMatching OMIM:619920 ANKDD1B skos:exactMatch ncbigene:728780 semapv:UnspecifiedMatching -OMIM:619923 PPP1R36 skos:exactMatch hgnc:PPP1R36 semapv:UnspecifiedMatching +OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:20097 semapv:UnspecifiedMatching +OMIM:619923 PPP1R36 skos:exactMatch hgnc.symbol:PPP1R36 semapv:UnspecifiedMatching OMIM:619923 PPP1R36 skos:exactMatch ncbigene:145376 semapv:UnspecifiedMatching -OMIM:619925 WASHC3 skos:exactMatch hgnc:WASHC3 semapv:UnspecifiedMatching +OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:24256 semapv:UnspecifiedMatching +OMIM:619925 WASHC3 skos:exactMatch hgnc.symbol:WASHC3 semapv:UnspecifiedMatching OMIM:619925 WASHC3 skos:exactMatch ncbigene:51019 semapv:UnspecifiedMatching -OMIM:619926 KLHL18 skos:exactMatch hgnc:KLHL18 semapv:UnspecifiedMatching +OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:29120 semapv:UnspecifiedMatching +OMIM:619926 KLHL18 skos:exactMatch hgnc.symbol:KLHL18 semapv:UnspecifiedMatching OMIM:619926 KLHL18 skos:exactMatch ncbigene:23276 semapv:UnspecifiedMatching -OMIM:619928 PHF24 skos:exactMatch hgnc:PHF24 semapv:UnspecifiedMatching +OMIM:619928 PHF24 skos:exactMatch hgnc.symbol:29180 semapv:UnspecifiedMatching +OMIM:619928 PHF24 skos:exactMatch hgnc.symbol:PHF24 semapv:UnspecifiedMatching OMIM:619928 PHF24 skos:exactMatch ncbigene:23349 semapv:UnspecifiedMatching -OMIM:619929 TEX2 skos:exactMatch hgnc:TEX2 semapv:UnspecifiedMatching +OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:30884 semapv:UnspecifiedMatching +OMIM:619929 TEX2 skos:exactMatch hgnc.symbol:TEX2 semapv:UnspecifiedMatching OMIM:619929 TEX2 skos:exactMatch ncbigene:55852 semapv:UnspecifiedMatching -OMIM:619930 ZMAT2 skos:exactMatch hgnc:ZMAT2 semapv:UnspecifiedMatching +OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:26433 semapv:UnspecifiedMatching +OMIM:619930 ZMAT2 skos:exactMatch hgnc.symbol:ZMAT2 semapv:UnspecifiedMatching OMIM:619930 ZMAT2 skos:exactMatch ncbigene:153527 semapv:UnspecifiedMatching -OMIM:619932 GFOD1 skos:exactMatch hgnc:GFOD1 semapv:UnspecifiedMatching +OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:21096 semapv:UnspecifiedMatching +OMIM:619932 GFOD1 skos:exactMatch hgnc.symbol:GFOD1 semapv:UnspecifiedMatching OMIM:619932 GFOD1 skos:exactMatch ncbigene:54438 semapv:UnspecifiedMatching -OMIM:619933 GFOD2 skos:exactMatch hgnc:GFOD2 semapv:UnspecifiedMatching +OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:28159 semapv:UnspecifiedMatching +OMIM:619933 GFOD2 skos:exactMatch hgnc.symbol:GFOD2 semapv:UnspecifiedMatching OMIM:619933 GFOD2 skos:exactMatch ncbigene:81577 semapv:UnspecifiedMatching -OMIM:619936 ASB17 skos:exactMatch hgnc:ASB17 semapv:UnspecifiedMatching +OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:19769 semapv:UnspecifiedMatching +OMIM:619936 ASB17 skos:exactMatch hgnc.symbol:ASB17 semapv:UnspecifiedMatching OMIM:619936 ASB17 skos:exactMatch ncbigene:127247 semapv:UnspecifiedMatching -OMIM:619939 OR4M1 skos:exactMatch hgnc:OR4M1 semapv:UnspecifiedMatching +OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:14735 semapv:UnspecifiedMatching +OMIM:619939 OR4M1 skos:exactMatch hgnc.symbol:OR4M1 semapv:UnspecifiedMatching OMIM:619939 OR4M1 skos:exactMatch ncbigene:441670 semapv:UnspecifiedMatching -OMIM:619940 XKR8 skos:exactMatch hgnc:XKR8 semapv:UnspecifiedMatching +OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:25508 semapv:UnspecifiedMatching +OMIM:619940 XKR8 skos:exactMatch hgnc.symbol:XKR8 semapv:UnspecifiedMatching OMIM:619940 XKR8 skos:exactMatch ncbigene:55113 semapv:UnspecifiedMatching -OMIM:619942 ZNF541 skos:exactMatch hgnc:ZNF541 semapv:UnspecifiedMatching +OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:25294 semapv:UnspecifiedMatching +OMIM:619942 ZNF541 skos:exactMatch hgnc.symbol:ZNF541 semapv:UnspecifiedMatching OMIM:619942 ZNF541 skos:exactMatch ncbigene:84215 semapv:UnspecifiedMatching -OMIM:619943 KCTD19 skos:exactMatch hgnc:KCTD19 semapv:UnspecifiedMatching +OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:24753 semapv:UnspecifiedMatching +OMIM:619943 KCTD19 skos:exactMatch hgnc.symbol:KCTD19 semapv:UnspecifiedMatching OMIM:619943 KCTD19 skos:exactMatch ncbigene:146212 semapv:UnspecifiedMatching -OMIM:619944 CCSER2 skos:exactMatch hgnc:CCSER2 semapv:UnspecifiedMatching +OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:29197 semapv:UnspecifiedMatching +OMIM:619944 CCSER2 skos:exactMatch hgnc.symbol:CCSER2 semapv:UnspecifiedMatching OMIM:619944 CCSER2 skos:exactMatch ncbigene:54462 semapv:UnspecifiedMatching -OMIM:619945 FAM184B skos:exactMatch hgnc:FAM184B semapv:UnspecifiedMatching +OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:29235 semapv:UnspecifiedMatching +OMIM:619945 FAM184B skos:exactMatch hgnc.symbol:FAM184B semapv:UnspecifiedMatching OMIM:619945 FAM184B skos:exactMatch ncbigene:27146 semapv:UnspecifiedMatching -OMIM:619946 MCF2L2 skos:exactMatch hgnc:MCF2L2 semapv:UnspecifiedMatching +OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:30319 semapv:UnspecifiedMatching +OMIM:619946 MCF2L2 skos:exactMatch hgnc.symbol:MCF2L2 semapv:UnspecifiedMatching OMIM:619946 MCF2L2 skos:exactMatch ncbigene:23101 semapv:UnspecifiedMatching -OMIM:619948 IPCEF1 skos:exactMatch hgnc:IPCEF1 semapv:UnspecifiedMatching +OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:21204 semapv:UnspecifiedMatching +OMIM:619948 IPCEF1 skos:exactMatch hgnc.symbol:IPCEF1 semapv:UnspecifiedMatching OMIM:619948 IPCEF1 skos:exactMatch ncbigene:26034 semapv:UnspecifiedMatching -OMIM:619952 TMEM63B skos:exactMatch hgnc:TMEM63B semapv:UnspecifiedMatching +OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:17735 semapv:UnspecifiedMatching +OMIM:619952 TMEM63B skos:exactMatch hgnc.symbol:TMEM63B semapv:UnspecifiedMatching OMIM:619952 TMEM63B skos:exactMatch ncbigene:55362 semapv:UnspecifiedMatching -OMIM:619953 TMEM63C skos:exactMatch hgnc:TMEM63C semapv:UnspecifiedMatching +OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:23787 semapv:UnspecifiedMatching +OMIM:619953 TMEM63C skos:exactMatch hgnc.symbol:TMEM63C semapv:UnspecifiedMatching OMIM:619953 TMEM63C skos:exactMatch ncbigene:57156 semapv:UnspecifiedMatching -OMIM:619954 SYCE1L skos:exactMatch hgnc:SYCE1L semapv:UnspecifiedMatching +OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:37236 semapv:UnspecifiedMatching +OMIM:619954 SYCE1L skos:exactMatch hgnc.symbol:SYCE1L semapv:UnspecifiedMatching OMIM:619954 SYCE1L skos:exactMatch ncbigene:100130958 semapv:UnspecifiedMatching -OMIM:619956 PYURF skos:exactMatch hgnc:PYURF semapv:UnspecifiedMatching +OMIM:619956 PYURF skos:exactMatch hgnc.symbol:44317 semapv:UnspecifiedMatching +OMIM:619956 PYURF skos:exactMatch hgnc.symbol:PYURF semapv:UnspecifiedMatching OMIM:619956 PYURF skos:exactMatch ncbigene:100996939 semapv:UnspecifiedMatching -OMIM:619958 GLMP skos:exactMatch hgnc:GLMP semapv:UnspecifiedMatching +OMIM:619958 GLMP skos:exactMatch hgnc.symbol:29436 semapv:UnspecifiedMatching +OMIM:619958 GLMP skos:exactMatch hgnc.symbol:GLMP semapv:UnspecifiedMatching OMIM:619958 GLMP skos:exactMatch ncbigene:112770 semapv:UnspecifiedMatching -OMIM:619960 RAB5IF skos:exactMatch hgnc:RAB5IF semapv:UnspecifiedMatching +OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:15870 semapv:UnspecifiedMatching +OMIM:619960 RAB5IF skos:exactMatch hgnc.symbol:RAB5IF semapv:UnspecifiedMatching OMIM:619960 RAB5IF skos:exactMatch ncbigene:55969 semapv:UnspecifiedMatching -OMIM:619961 FOXB1 skos:exactMatch hgnc:FOXB1 semapv:UnspecifiedMatching +OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:3799 semapv:UnspecifiedMatching +OMIM:619961 FOXB1 skos:exactMatch hgnc.symbol:FOXB1 semapv:UnspecifiedMatching OMIM:619961 FOXB1 skos:exactMatch ncbigene:27023 semapv:UnspecifiedMatching -OMIM:619962 FOXB2 skos:exactMatch hgnc:FOXB2 semapv:UnspecifiedMatching +OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:23315 semapv:UnspecifiedMatching +OMIM:619962 FOXB2 skos:exactMatch hgnc.symbol:FOXB2 semapv:UnspecifiedMatching OMIM:619962 FOXB2 skos:exactMatch ncbigene:442425 semapv:UnspecifiedMatching -OMIM:619963 ANO9 skos:exactMatch hgnc:ANO9 semapv:UnspecifiedMatching +OMIM:619963 ANO9 skos:exactMatch hgnc.symbol:20679 semapv:UnspecifiedMatching +OMIM:619963 ANO9 skos:exactMatch hgnc.symbol:ANO9 semapv:UnspecifiedMatching OMIM:619963 ANO9 skos:exactMatch ncbigene:338440 semapv:UnspecifiedMatching -OMIM:619965 ALPK2 skos:exactMatch hgnc:ALPK2 semapv:UnspecifiedMatching +OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:20565 semapv:UnspecifiedMatching +OMIM:619965 ALPK2 skos:exactMatch hgnc.symbol:ALPK2 semapv:UnspecifiedMatching OMIM:619965 ALPK2 skos:exactMatch ncbigene:115701 semapv:UnspecifiedMatching -OMIM:619968 ACBD4 skos:exactMatch hgnc:ACBD4 semapv:UnspecifiedMatching +OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:23337 semapv:UnspecifiedMatching +OMIM:619968 ACBD4 skos:exactMatch hgnc.symbol:ACBD4 semapv:UnspecifiedMatching OMIM:619968 ACBD4 skos:exactMatch ncbigene:79777 semapv:UnspecifiedMatching -OMIM:619969 ZBTB47 skos:exactMatch hgnc:ZBTB47 semapv:UnspecifiedMatching +OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:26955 semapv:UnspecifiedMatching +OMIM:619969 ZBTB47 skos:exactMatch hgnc.symbol:ZBTB47 semapv:UnspecifiedMatching OMIM:619969 ZBTB47 skos:exactMatch ncbigene:92999 semapv:UnspecifiedMatching -OMIM:619973 DNAJC16 skos:exactMatch hgnc:DNAJC16 semapv:UnspecifiedMatching +OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:29157 semapv:UnspecifiedMatching +OMIM:619973 DNAJC16 skos:exactMatch hgnc.symbol:DNAJC16 semapv:UnspecifiedMatching OMIM:619973 DNAJC16 skos:exactMatch ncbigene:23341 semapv:UnspecifiedMatching -OMIM:619974 ESPNL skos:exactMatch hgnc:ESPNL semapv:UnspecifiedMatching +OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:27937 semapv:UnspecifiedMatching +OMIM:619974 ESPNL skos:exactMatch hgnc.symbol:ESPNL semapv:UnspecifiedMatching OMIM:619974 ESPNL skos:exactMatch ncbigene:339768 semapv:UnspecifiedMatching -OMIM:619976 MFSD1 skos:exactMatch hgnc:MFSD1 semapv:UnspecifiedMatching +OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:25874 semapv:UnspecifiedMatching +OMIM:619976 MFSD1 skos:exactMatch hgnc.symbol:MFSD1 semapv:UnspecifiedMatching OMIM:619976 MFSD1 skos:exactMatch ncbigene:64747 semapv:UnspecifiedMatching -OMIM:619978 MATCAP1 skos:exactMatch hgnc:MATCAP1 semapv:UnspecifiedMatching +OMIM:619978 MATCAP1 skos:exactMatch hgnc.symbol:MATCAP1 semapv:UnspecifiedMatching OMIM:619978 MATCAP1 skos:exactMatch ncbigene:653319 semapv:UnspecifiedMatching -OMIM:619979 C18ORF32 skos:exactMatch hgnc:C18orf32 semapv:UnspecifiedMatching +OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:31690 semapv:UnspecifiedMatching +OMIM:619979 C18ORF32 skos:exactMatch hgnc.symbol:C18orf32 semapv:UnspecifiedMatching OMIM:619979 C18ORF32 skos:exactMatch ncbigene:497661 semapv:UnspecifiedMatching -OMIM:619982 VIMAS1 skos:exactMatch hgnc:VIM-AS1 semapv:UnspecifiedMatching +OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:44879 semapv:UnspecifiedMatching +OMIM:619982 VIMAS1 skos:exactMatch hgnc.symbol:VIM-AS1 semapv:UnspecifiedMatching OMIM:619982 VIMAS1 skos:exactMatch ncbigene:100507347 semapv:UnspecifiedMatching -OMIM:619984 NPIPB3 skos:exactMatch hgnc:NPIPB3 semapv:UnspecifiedMatching +OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:28989 semapv:UnspecifiedMatching +OMIM:619984 NPIPB3 skos:exactMatch hgnc.symbol:NPIPB3 semapv:UnspecifiedMatching OMIM:619984 NPIPB3 skos:exactMatch ncbigene:23117 semapv:UnspecifiedMatching -OMIM:619987 NRARP skos:exactMatch hgnc:NRARP semapv:UnspecifiedMatching +OMIM:619987 NRARP skos:exactMatch hgnc.symbol:33843 semapv:UnspecifiedMatching +OMIM:619987 NRARP skos:exactMatch hgnc.symbol:NRARP semapv:UnspecifiedMatching OMIM:619987 NRARP skos:exactMatch ncbigene:441478 semapv:UnspecifiedMatching -OMIM:619990 TMED7 skos:exactMatch hgnc:TMED7 semapv:UnspecifiedMatching +OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:24253 semapv:UnspecifiedMatching +OMIM:619990 TMED7 skos:exactMatch hgnc.symbol:TMED7 semapv:UnspecifiedMatching OMIM:619990 TMED7 skos:exactMatch ncbigene:51014 semapv:UnspecifiedMatching -OMIM:619992 C3ORF20 skos:exactMatch hgnc:C3orf20 semapv:UnspecifiedMatching +OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:25320 semapv:UnspecifiedMatching +OMIM:619992 C3ORF20 skos:exactMatch hgnc.symbol:C3orf20 semapv:UnspecifiedMatching OMIM:619992 C3ORF20 skos:exactMatch ncbigene:84077 semapv:UnspecifiedMatching -OMIM:619993 PRRT3 skos:exactMatch hgnc:PRRT3 semapv:UnspecifiedMatching +OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:26591 semapv:UnspecifiedMatching +OMIM:619993 PRRT3 skos:exactMatch hgnc.symbol:PRRT3 semapv:UnspecifiedMatching OMIM:619993 PRRT3 skos:exactMatch ncbigene:285368 semapv:UnspecifiedMatching -OMIM:619994 DYNLT5 skos:exactMatch hgnc:DYNLT5 semapv:UnspecifiedMatching +OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:26882 semapv:UnspecifiedMatching +OMIM:619994 DYNLT5 skos:exactMatch hgnc.symbol:DYNLT5 semapv:UnspecifiedMatching OMIM:619994 DYNLT5 skos:exactMatch ncbigene:200132 semapv:UnspecifiedMatching -OMIM:619996 RSRC2 skos:exactMatch hgnc:RSRC2 semapv:UnspecifiedMatching +OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:30559 semapv:UnspecifiedMatching +OMIM:619996 RSRC2 skos:exactMatch hgnc.symbol:RSRC2 semapv:UnspecifiedMatching OMIM:619996 RSRC2 skos:exactMatch ncbigene:65117 semapv:UnspecifiedMatching -OMIM:619997 SLC35F5 skos:exactMatch hgnc:SLC35F5 semapv:UnspecifiedMatching +OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:23617 semapv:UnspecifiedMatching +OMIM:619997 SLC35F5 skos:exactMatch hgnc.symbol:SLC35F5 semapv:UnspecifiedMatching OMIM:619997 SLC35F5 skos:exactMatch ncbigene:80255 semapv:UnspecifiedMatching -OMIM:619998 NUP42 skos:exactMatch hgnc:NUP42 semapv:UnspecifiedMatching +OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:17010 semapv:UnspecifiedMatching +OMIM:619998 NUP42 skos:exactMatch hgnc.symbol:NUP42 semapv:UnspecifiedMatching OMIM:619998 NUP42 skos:exactMatch ncbigene:11097 semapv:UnspecifiedMatching -OMIM:619999 NAA40 skos:exactMatch hgnc:NAA40 semapv:UnspecifiedMatching +OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:25845 semapv:UnspecifiedMatching +OMIM:619999 NAA40 skos:exactMatch hgnc.symbol:NAA40 semapv:UnspecifiedMatching OMIM:619999 NAA40 skos:exactMatch ncbigene:79829 semapv:UnspecifiedMatching -OMIM:620000 TMEM167A skos:exactMatch hgnc:TMEM167A semapv:UnspecifiedMatching +OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:28330 semapv:UnspecifiedMatching +OMIM:620000 TMEM167A skos:exactMatch hgnc.symbol:TMEM167A semapv:UnspecifiedMatching OMIM:620000 TMEM167A skos:exactMatch ncbigene:153339 semapv:UnspecifiedMatching -OMIM:620002 C5ORF47 skos:exactMatch hgnc:C5orf47 semapv:UnspecifiedMatching +OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:27026 semapv:UnspecifiedMatching +OMIM:620002 C5ORF47 skos:exactMatch hgnc.symbol:C5orf47 semapv:UnspecifiedMatching OMIM:620002 C5ORF47 skos:exactMatch ncbigene:133491 semapv:UnspecifiedMatching -OMIM:620003 TBC1D12 skos:exactMatch hgnc:TBC1D12 semapv:UnspecifiedMatching +OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:29082 semapv:UnspecifiedMatching +OMIM:620003 TBC1D12 skos:exactMatch hgnc.symbol:TBC1D12 semapv:UnspecifiedMatching OMIM:620003 TBC1D12 skos:exactMatch ncbigene:23232 semapv:UnspecifiedMatching -OMIM:620004 NMRAL1 skos:exactMatch hgnc:NMRAL1 semapv:UnspecifiedMatching +OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:24987 semapv:UnspecifiedMatching +OMIM:620004 NMRAL1 skos:exactMatch hgnc.symbol:NMRAL1 semapv:UnspecifiedMatching OMIM:620004 NMRAL1 skos:exactMatch ncbigene:57407 semapv:UnspecifiedMatching -OMIM:620006 RAD54L2 skos:exactMatch hgnc:RAD54L2 semapv:UnspecifiedMatching +OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:29123 semapv:UnspecifiedMatching +OMIM:620006 RAD54L2 skos:exactMatch hgnc.symbol:RAD54L2 semapv:UnspecifiedMatching OMIM:620006 RAD54L2 skos:exactMatch ncbigene:23132 semapv:UnspecifiedMatching -OMIM:620008 H2AZ2 skos:exactMatch hgnc:H2AZ2 semapv:UnspecifiedMatching +OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:20664 semapv:UnspecifiedMatching +OMIM:620008 H2AZ2 skos:exactMatch hgnc.symbol:H2AZ2 semapv:UnspecifiedMatching OMIM:620008 H2AZ2 skos:exactMatch ncbigene:94239 semapv:UnspecifiedMatching -OMIM:620013 RRP9 skos:exactMatch hgnc:RRP9 semapv:UnspecifiedMatching +OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:16829 semapv:UnspecifiedMatching +OMIM:620013 RRP9 skos:exactMatch hgnc.symbol:RRP9 semapv:UnspecifiedMatching OMIM:620013 RRP9 skos:exactMatch ncbigene:9136 semapv:UnspecifiedMatching -OMIM:620016 MXD4 skos:exactMatch hgnc:MXD4 semapv:UnspecifiedMatching +OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:13906 semapv:UnspecifiedMatching +OMIM:620016 MXD4 skos:exactMatch hgnc.symbol:MXD4 semapv:UnspecifiedMatching OMIM:620016 MXD4 skos:exactMatch ncbigene:10608 semapv:UnspecifiedMatching -OMIM:620017 NRM skos:exactMatch hgnc:NRM semapv:UnspecifiedMatching +OMIM:620017 NRM skos:exactMatch hgnc.symbol:8003 semapv:UnspecifiedMatching +OMIM:620017 NRM skos:exactMatch hgnc.symbol:NRM semapv:UnspecifiedMatching OMIM:620017 NRM skos:exactMatch ncbigene:11270 semapv:UnspecifiedMatching -OMIM:620018 PDIA4 skos:exactMatch hgnc:PDIA4 semapv:UnspecifiedMatching +OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:30167 semapv:UnspecifiedMatching +OMIM:620018 PDIA4 skos:exactMatch hgnc.symbol:PDIA4 semapv:UnspecifiedMatching OMIM:620018 PDIA4 skos:exactMatch ncbigene:9601 semapv:UnspecifiedMatching -OMIM:620020 G3BP2 skos:exactMatch hgnc:G3BP2 semapv:UnspecifiedMatching +OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:30291 semapv:UnspecifiedMatching +OMIM:620020 G3BP2 skos:exactMatch hgnc.symbol:G3BP2 semapv:UnspecifiedMatching OMIM:620020 G3BP2 skos:exactMatch ncbigene:9908 semapv:UnspecifiedMatching -OMIM:620026 ZSCAN1 skos:exactMatch hgnc:ZSCAN1 semapv:UnspecifiedMatching +OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:23712 semapv:UnspecifiedMatching +OMIM:620026 ZSCAN1 skos:exactMatch hgnc.symbol:ZSCAN1 semapv:UnspecifiedMatching OMIM:620026 ZSCAN1 skos:exactMatch ncbigene:284312 semapv:UnspecifiedMatching -OMIM:620030 RSRP1 skos:exactMatch hgnc:RSRP1 semapv:UnspecifiedMatching +OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:25234 semapv:UnspecifiedMatching +OMIM:620030 RSRP1 skos:exactMatch hgnc.symbol:RSRP1 semapv:UnspecifiedMatching OMIM:620030 RSRP1 skos:exactMatch ncbigene:57035 semapv:UnspecifiedMatching -OMIM:620031 PHC3 skos:exactMatch hgnc:PHC3 semapv:UnspecifiedMatching +OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:15682 semapv:UnspecifiedMatching +OMIM:620031 PHC3 skos:exactMatch hgnc.symbol:PHC3 semapv:UnspecifiedMatching OMIM:620031 PHC3 skos:exactMatch ncbigene:80012 semapv:UnspecifiedMatching -OMIM:620034 NIPAL3 skos:exactMatch hgnc:NIPAL3 semapv:UnspecifiedMatching +OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:25233 semapv:UnspecifiedMatching +OMIM:620034 NIPAL3 skos:exactMatch hgnc.symbol:NIPAL3 semapv:UnspecifiedMatching OMIM:620034 NIPAL3 skos:exactMatch ncbigene:57185 semapv:UnspecifiedMatching -OMIM:620035 SMAD5AS1 skos:exactMatch hgnc:SMAD5-AS1 semapv:UnspecifiedMatching +OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:30586 semapv:UnspecifiedMatching +OMIM:620035 SMAD5AS1 skos:exactMatch hgnc.symbol:SMAD5-AS1 semapv:UnspecifiedMatching OMIM:620035 SMAD5AS1 skos:exactMatch ncbigene:9597 semapv:UnspecifiedMatching -OMIM:620036 IER2 skos:exactMatch hgnc:IER2 semapv:UnspecifiedMatching +OMIM:620036 IER2 skos:exactMatch hgnc.symbol:28871 semapv:UnspecifiedMatching +OMIM:620036 IER2 skos:exactMatch hgnc.symbol:IER2 semapv:UnspecifiedMatching OMIM:620036 IER2 skos:exactMatch ncbigene:9592 semapv:UnspecifiedMatching -OMIM:620037 FAM193A skos:exactMatch hgnc:FAM193A semapv:UnspecifiedMatching +OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:16822 semapv:UnspecifiedMatching +OMIM:620037 FAM193A skos:exactMatch hgnc.symbol:FAM193A semapv:UnspecifiedMatching OMIM:620037 FAM193A skos:exactMatch ncbigene:8603 semapv:UnspecifiedMatching -OMIM:620039 POGK skos:exactMatch hgnc:POGK semapv:UnspecifiedMatching +OMIM:620039 POGK skos:exactMatch hgnc.symbol:18800 semapv:UnspecifiedMatching +OMIM:620039 POGK skos:exactMatch hgnc.symbol:POGK semapv:UnspecifiedMatching OMIM:620039 POGK skos:exactMatch ncbigene:57645 semapv:UnspecifiedMatching -OMIM:620041 NT5C3B skos:exactMatch hgnc:NT5C3B semapv:UnspecifiedMatching +OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:28300 semapv:UnspecifiedMatching +OMIM:620041 NT5C3B skos:exactMatch hgnc.symbol:NT5C3B semapv:UnspecifiedMatching OMIM:620041 NT5C3B skos:exactMatch ncbigene:115024 semapv:UnspecifiedMatching -OMIM:620042 PHYHD1 skos:exactMatch hgnc:PHYHD1 semapv:UnspecifiedMatching +OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:23396 semapv:UnspecifiedMatching +OMIM:620042 PHYHD1 skos:exactMatch hgnc.symbol:PHYHD1 semapv:UnspecifiedMatching OMIM:620042 PHYHD1 skos:exactMatch ncbigene:254295 semapv:UnspecifiedMatching -OMIM:620043 RDH16 skos:exactMatch hgnc:RDH16 semapv:UnspecifiedMatching +OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:29674 semapv:UnspecifiedMatching +OMIM:620043 RDH16 skos:exactMatch hgnc.symbol:RDH16 semapv:UnspecifiedMatching OMIM:620043 RDH16 skos:exactMatch ncbigene:8608 semapv:UnspecifiedMatching -OMIM:620046 PFN4 skos:exactMatch hgnc:PFN4 semapv:UnspecifiedMatching +OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:31103 semapv:UnspecifiedMatching +OMIM:620046 PFN4 skos:exactMatch hgnc.symbol:PFN4 semapv:UnspecifiedMatching OMIM:620046 PFN4 skos:exactMatch ncbigene:375189 semapv:UnspecifiedMatching -OMIM:620048 RER1 skos:exactMatch hgnc:RER1 semapv:UnspecifiedMatching +OMIM:620048 RER1 skos:exactMatch hgnc.symbol:30309 semapv:UnspecifiedMatching +OMIM:620048 RER1 skos:exactMatch hgnc.symbol:RER1 semapv:UnspecifiedMatching OMIM:620048 RER1 skos:exactMatch ncbigene:11079 semapv:UnspecifiedMatching -OMIM:620050 PHF20L1 skos:exactMatch hgnc:PHF20L1 semapv:UnspecifiedMatching +OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:24280 semapv:UnspecifiedMatching +OMIM:620050 PHF20L1 skos:exactMatch hgnc.symbol:PHF20L1 semapv:UnspecifiedMatching OMIM:620050 PHF20L1 skos:exactMatch ncbigene:51105 semapv:UnspecifiedMatching -OMIM:620051 RNF41 skos:exactMatch hgnc:RNF41 semapv:UnspecifiedMatching +OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:18401 semapv:UnspecifiedMatching +OMIM:620051 RNF41 skos:exactMatch hgnc.symbol:RNF41 semapv:UnspecifiedMatching OMIM:620051 RNF41 skos:exactMatch ncbigene:10193 semapv:UnspecifiedMatching -OMIM:620052 ENTREP2 skos:exactMatch hgnc:ENTREP2 semapv:UnspecifiedMatching +OMIM:620052 ENTREP2 skos:exactMatch hgnc.symbol:ENTREP2 semapv:UnspecifiedMatching OMIM:620052 ENTREP2 skos:exactMatch ncbigene:23359 semapv:UnspecifiedMatching -OMIM:620053 LINC00974 skos:exactMatch hgnc:LINC00974 semapv:UnspecifiedMatching +OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:27105 semapv:UnspecifiedMatching +OMIM:620053 LINC00974 skos:exactMatch hgnc.symbol:LINC00974 semapv:UnspecifiedMatching OMIM:620053 LINC00974 skos:exactMatch ncbigene:147093 semapv:UnspecifiedMatching -OMIM:620054 PHF13 skos:exactMatch hgnc:PHF13 semapv:UnspecifiedMatching +OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:22983 semapv:UnspecifiedMatching +OMIM:620054 PHF13 skos:exactMatch hgnc.symbol:PHF13 semapv:UnspecifiedMatching OMIM:620054 PHF13 skos:exactMatch ncbigene:148479 semapv:UnspecifiedMatching -OMIM:620055 PWP1 skos:exactMatch hgnc:PWP1 semapv:UnspecifiedMatching +OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:17015 semapv:UnspecifiedMatching +OMIM:620055 PWP1 skos:exactMatch hgnc.symbol:PWP1 semapv:UnspecifiedMatching OMIM:620055 PWP1 skos:exactMatch ncbigene:11137 semapv:UnspecifiedMatching -OMIM:620057 PHF7 skos:exactMatch hgnc:PHF7 semapv:UnspecifiedMatching +OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:18458 semapv:UnspecifiedMatching +OMIM:620057 PHF7 skos:exactMatch hgnc.symbol:PHF7 semapv:UnspecifiedMatching OMIM:620057 PHF7 skos:exactMatch ncbigene:51533 semapv:UnspecifiedMatching -OMIM:620059 LINC00472 skos:exactMatch hgnc:LINC00472 semapv:UnspecifiedMatching +OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:21380 semapv:UnspecifiedMatching +OMIM:620059 LINC00472 skos:exactMatch hgnc.symbol:LINC00472 semapv:UnspecifiedMatching OMIM:620059 LINC00472 skos:exactMatch ncbigene:79940 semapv:UnspecifiedMatching -OMIM:620060 TTC7B skos:exactMatch hgnc:TTC7B semapv:UnspecifiedMatching +OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:19858 semapv:UnspecifiedMatching +OMIM:620060 TTC7B skos:exactMatch hgnc.symbol:TTC7B semapv:UnspecifiedMatching OMIM:620060 TTC7B skos:exactMatch ncbigene:145567 semapv:UnspecifiedMatching -OMIM:620061 CDK2AP2 skos:exactMatch hgnc:CDK2AP2 semapv:UnspecifiedMatching +OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:30833 semapv:UnspecifiedMatching +OMIM:620061 CDK2AP2 skos:exactMatch hgnc.symbol:CDK2AP2 semapv:UnspecifiedMatching OMIM:620061 CDK2AP2 skos:exactMatch ncbigene:10263 semapv:UnspecifiedMatching -OMIM:620063 POLA2 skos:exactMatch hgnc:POLA2 semapv:UnspecifiedMatching +OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:30073 semapv:UnspecifiedMatching +OMIM:620063 POLA2 skos:exactMatch hgnc.symbol:POLA2 semapv:UnspecifiedMatching OMIM:620063 POLA2 skos:exactMatch ncbigene:23649 semapv:UnspecifiedMatching -OMIM:620064 OXER1 skos:exactMatch hgnc:OXER1 semapv:UnspecifiedMatching +OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:24884 semapv:UnspecifiedMatching +OMIM:620064 OXER1 skos:exactMatch hgnc.symbol:OXER1 semapv:UnspecifiedMatching OMIM:620064 OXER1 skos:exactMatch ncbigene:165140 semapv:UnspecifiedMatching -OMIM:620069 ANKIB1 skos:exactMatch hgnc:ANKIB1 semapv:UnspecifiedMatching +OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:22215 semapv:UnspecifiedMatching +OMIM:620069 ANKIB1 skos:exactMatch hgnc.symbol:ANKIB1 semapv:UnspecifiedMatching OMIM:620069 ANKIB1 skos:exactMatch ncbigene:54467 semapv:UnspecifiedMatching -OMIM:620074 LTV1 skos:exactMatch hgnc:LTV1 semapv:UnspecifiedMatching +OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:21173 semapv:UnspecifiedMatching +OMIM:620074 LTV1 skos:exactMatch hgnc.symbol:LTV1 semapv:UnspecifiedMatching OMIM:620074 LTV1 skos:exactMatch ncbigene:84946 semapv:UnspecifiedMatching -OMIM:620077 PCMTD2 skos:exactMatch hgnc:PCMTD2 semapv:UnspecifiedMatching +OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:15882 semapv:UnspecifiedMatching +OMIM:620077 PCMTD2 skos:exactMatch hgnc.symbol:PCMTD2 semapv:UnspecifiedMatching OMIM:620077 PCMTD2 skos:exactMatch ncbigene:55251 semapv:UnspecifiedMatching -OMIM:620078 FAM168B skos:exactMatch hgnc:FAM168B semapv:UnspecifiedMatching +OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:27016 semapv:UnspecifiedMatching +OMIM:620078 FAM168B skos:exactMatch hgnc.symbol:FAM168B semapv:UnspecifiedMatching OMIM:620078 FAM168B skos:exactMatch ncbigene:130074 semapv:UnspecifiedMatching -OMIM:620079 LINC00467 skos:exactMatch hgnc:LINC00467 semapv:UnspecifiedMatching +OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:28227 semapv:UnspecifiedMatching +OMIM:620079 LINC00467 skos:exactMatch hgnc.symbol:LINC00467 semapv:UnspecifiedMatching OMIM:620079 LINC00467 skos:exactMatch ncbigene:84791 semapv:UnspecifiedMatching -OMIM:620081 RBM26 skos:exactMatch hgnc:RBM26 semapv:UnspecifiedMatching +OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:20327 semapv:UnspecifiedMatching +OMIM:620081 RBM26 skos:exactMatch hgnc.symbol:RBM26 semapv:UnspecifiedMatching OMIM:620081 RBM26 skos:exactMatch ncbigene:64062 semapv:UnspecifiedMatching -OMIM:620082 RBM27 skos:exactMatch hgnc:RBM27 semapv:UnspecifiedMatching +OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:29243 semapv:UnspecifiedMatching +OMIM:620082 RBM27 skos:exactMatch hgnc.symbol:RBM27 semapv:UnspecifiedMatching OMIM:620082 RBM27 skos:exactMatch ncbigene:54439 semapv:UnspecifiedMatching -OMIM:620087 DCAF12 skos:exactMatch hgnc:DCAF12 semapv:UnspecifiedMatching +OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:19911 semapv:UnspecifiedMatching +OMIM:620087 DCAF12 skos:exactMatch hgnc.symbol:DCAF12 semapv:UnspecifiedMatching OMIM:620087 DCAF12 skos:exactMatch ncbigene:25853 semapv:UnspecifiedMatching -OMIM:620088 WWC2AS1 skos:exactMatch hgnc:WWC2-AS1 semapv:UnspecifiedMatching +OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:41041 semapv:UnspecifiedMatching +OMIM:620088 WWC2AS1 skos:exactMatch hgnc.symbol:WWC2-AS1 semapv:UnspecifiedMatching OMIM:620088 WWC2AS1 skos:exactMatch ncbigene:101928734 semapv:UnspecifiedMatching -OMIM:620090 ZNF675 skos:exactMatch hgnc:ZNF675 semapv:UnspecifiedMatching +OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:30768 semapv:UnspecifiedMatching +OMIM:620090 ZNF675 skos:exactMatch hgnc.symbol:ZNF675 semapv:UnspecifiedMatching OMIM:620090 ZNF675 skos:exactMatch ncbigene:171392 semapv:UnspecifiedMatching -OMIM:620091 PCMTD1 skos:exactMatch hgnc:PCMTD1 semapv:UnspecifiedMatching +OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:30483 semapv:UnspecifiedMatching +OMIM:620091 PCMTD1 skos:exactMatch hgnc.symbol:PCMTD1 semapv:UnspecifiedMatching OMIM:620091 PCMTD1 skos:exactMatch ncbigene:115294 semapv:UnspecifiedMatching -OMIM:620092 MIER2 skos:exactMatch hgnc:MIER2 semapv:UnspecifiedMatching +OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:29210 semapv:UnspecifiedMatching +OMIM:620092 MIER2 skos:exactMatch hgnc.symbol:MIER2 semapv:UnspecifiedMatching OMIM:620092 MIER2 skos:exactMatch ncbigene:54531 semapv:UnspecifiedMatching -OMIM:620093 ACTMAP skos:exactMatch hgnc:ACTMAP semapv:UnspecifiedMatching +OMIM:620093 ACTMAP skos:exactMatch hgnc.symbol:ACTMAP semapv:UnspecifiedMatching OMIM:620093 ACTMAP skos:exactMatch ncbigene:284325 semapv:UnspecifiedMatching -OMIM:620095 ZCCHC2 skos:exactMatch hgnc:ZCCHC2 semapv:UnspecifiedMatching +OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:22916 semapv:UnspecifiedMatching +OMIM:620095 ZCCHC2 skos:exactMatch hgnc.symbol:ZCCHC2 semapv:UnspecifiedMatching OMIM:620095 ZCCHC2 skos:exactMatch ncbigene:54877 semapv:UnspecifiedMatching -OMIM:620096 RNF185 skos:exactMatch hgnc:RNF185 semapv:UnspecifiedMatching +OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:26783 semapv:UnspecifiedMatching +OMIM:620096 RNF185 skos:exactMatch hgnc.symbol:RNF185 semapv:UnspecifiedMatching OMIM:620096 RNF185 skos:exactMatch ncbigene:91445 semapv:UnspecifiedMatching -OMIM:620097 PLBD2 skos:exactMatch hgnc:PLBD2 semapv:UnspecifiedMatching +OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:27283 semapv:UnspecifiedMatching +OMIM:620097 PLBD2 skos:exactMatch hgnc.symbol:PLBD2 semapv:UnspecifiedMatching OMIM:620097 PLBD2 skos:exactMatch ncbigene:196463 semapv:UnspecifiedMatching -OMIM:620100 MIER3 skos:exactMatch hgnc:MIER3 semapv:UnspecifiedMatching +OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:26678 semapv:UnspecifiedMatching +OMIM:620100 MIER3 skos:exactMatch hgnc.symbol:MIER3 semapv:UnspecifiedMatching OMIM:620100 MIER3 skos:exactMatch ncbigene:166968 semapv:UnspecifiedMatching -OMIM:620101 RHOV skos:exactMatch hgnc:RHOV semapv:UnspecifiedMatching +OMIM:620101 RHOV skos:exactMatch hgnc.symbol:18313 semapv:UnspecifiedMatching +OMIM:620101 RHOV skos:exactMatch hgnc.symbol:RHOV semapv:UnspecifiedMatching OMIM:620101 RHOV skos:exactMatch ncbigene:171177 semapv:UnspecifiedMatching -OMIM:620105 CLEC4F skos:exactMatch hgnc:CLEC4F semapv:UnspecifiedMatching +OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:25357 semapv:UnspecifiedMatching +OMIM:620105 CLEC4F skos:exactMatch hgnc.symbol:CLEC4F semapv:UnspecifiedMatching OMIM:620105 CLEC4F skos:exactMatch ncbigene:165530 semapv:UnspecifiedMatching -OMIM:620108 TMEM151A skos:exactMatch hgnc:TMEM151A semapv:UnspecifiedMatching +OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:28497 semapv:UnspecifiedMatching +OMIM:620108 TMEM151A skos:exactMatch hgnc.symbol:TMEM151A semapv:UnspecifiedMatching OMIM:620108 TMEM151A skos:exactMatch ncbigene:256472 semapv:UnspecifiedMatching -OMIM:620109 DCAF15 skos:exactMatch hgnc:DCAF15 semapv:UnspecifiedMatching +OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:25095 semapv:UnspecifiedMatching +OMIM:620109 DCAF15 skos:exactMatch hgnc.symbol:DCAF15 semapv:UnspecifiedMatching OMIM:620109 DCAF15 skos:exactMatch ncbigene:90379 semapv:UnspecifiedMatching -OMIM:620110 WWC2 skos:exactMatch hgnc:WWC2 semapv:UnspecifiedMatching +OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:24148 semapv:UnspecifiedMatching +OMIM:620110 WWC2 skos:exactMatch hgnc.symbol:WWC2 semapv:UnspecifiedMatching OMIM:620110 WWC2 skos:exactMatch ncbigene:80014 semapv:UnspecifiedMatching -OMIM:620112 APOA1AS skos:exactMatch hgnc:APOA1-AS semapv:UnspecifiedMatching +OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:40079 semapv:UnspecifiedMatching +OMIM:620112 APOA1AS skos:exactMatch hgnc.symbol:APOA1-AS semapv:UnspecifiedMatching OMIM:620112 APOA1AS skos:exactMatch ncbigene:104326055 semapv:UnspecifiedMatching -OMIM:620117 MIR887 skos:exactMatch hgnc:MIR887 semapv:UnspecifiedMatching +OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:33661 semapv:UnspecifiedMatching +OMIM:620117 MIR887 skos:exactMatch hgnc.symbol:MIR887 semapv:UnspecifiedMatching OMIM:620117 MIR887 skos:exactMatch ncbigene:100126347 semapv:UnspecifiedMatching -OMIM:620118 ZNF490 skos:exactMatch hgnc:ZNF490 semapv:UnspecifiedMatching +OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:23705 semapv:UnspecifiedMatching +OMIM:620118 ZNF490 skos:exactMatch hgnc.symbol:ZNF490 semapv:UnspecifiedMatching OMIM:620118 ZNF490 skos:exactMatch ncbigene:57474 semapv:UnspecifiedMatching -OMIM:620120 DENND2A skos:exactMatch hgnc:DENND2A semapv:UnspecifiedMatching +OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:22212 semapv:UnspecifiedMatching +OMIM:620120 DENND2A skos:exactMatch hgnc.symbol:DENND2A semapv:UnspecifiedMatching OMIM:620120 DENND2A skos:exactMatch ncbigene:27147 semapv:UnspecifiedMatching -OMIM:620122 DENND11 skos:exactMatch hgnc:DENND11 semapv:UnspecifiedMatching +OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:29472 semapv:UnspecifiedMatching +OMIM:620122 DENND11 skos:exactMatch hgnc.symbol:DENND11 semapv:UnspecifiedMatching OMIM:620122 DENND11 skos:exactMatch ncbigene:57189 semapv:UnspecifiedMatching -OMIM:620123 FBRSL1 skos:exactMatch hgnc:FBRSL1 semapv:UnspecifiedMatching +OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:29308 semapv:UnspecifiedMatching +OMIM:620123 FBRSL1 skos:exactMatch hgnc.symbol:FBRSL1 semapv:UnspecifiedMatching OMIM:620123 FBRSL1 skos:exactMatch ncbigene:57666 semapv:UnspecifiedMatching -OMIM:620124 ZNF492 skos:exactMatch hgnc:ZNF492 semapv:UnspecifiedMatching +OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:23707 semapv:UnspecifiedMatching +OMIM:620124 ZNF492 skos:exactMatch hgnc.symbol:ZNF492 semapv:UnspecifiedMatching OMIM:620124 ZNF492 skos:exactMatch ncbigene:57615 semapv:UnspecifiedMatching -OMIM:620127 MIR151A skos:exactMatch hgnc:MIR151A semapv:UnspecifiedMatching +OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:31762 semapv:UnspecifiedMatching +OMIM:620127 MIR151A skos:exactMatch hgnc.symbol:MIR151A semapv:UnspecifiedMatching OMIM:620127 MIR151A skos:exactMatch ncbigene:442893 semapv:UnspecifiedMatching -OMIM:620128 FSTL5 skos:exactMatch hgnc:FSTL5 semapv:UnspecifiedMatching +OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:21386 semapv:UnspecifiedMatching +OMIM:620128 FSTL5 skos:exactMatch hgnc.symbol:FSTL5 semapv:UnspecifiedMatching OMIM:620128 FSTL5 skos:exactMatch ncbigene:56884 semapv:UnspecifiedMatching -OMIM:620129 NYNRIN skos:exactMatch hgnc:NYNRIN semapv:UnspecifiedMatching +OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:20165 semapv:UnspecifiedMatching +OMIM:620129 NYNRIN skos:exactMatch hgnc.symbol:NYNRIN semapv:UnspecifiedMatching OMIM:620129 NYNRIN skos:exactMatch ncbigene:57523 semapv:UnspecifiedMatching -OMIM:620130 ODF2L skos:exactMatch hgnc:ODF2L semapv:UnspecifiedMatching +OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:29225 semapv:UnspecifiedMatching +OMIM:620130 ODF2L skos:exactMatch hgnc.symbol:ODF2L semapv:UnspecifiedMatching OMIM:620130 ODF2L skos:exactMatch ncbigene:57489 semapv:UnspecifiedMatching -OMIM:620131 DEFB126 skos:exactMatch hgnc:DEFB126 semapv:UnspecifiedMatching +OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:15900 semapv:UnspecifiedMatching +OMIM:620131 DEFB126 skos:exactMatch hgnc.symbol:DEFB126 semapv:UnspecifiedMatching OMIM:620131 DEFB126 skos:exactMatch ncbigene:81623 semapv:UnspecifiedMatching -OMIM:620132 ZSWIM5 skos:exactMatch hgnc:ZSWIM5 semapv:UnspecifiedMatching +OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:29299 semapv:UnspecifiedMatching +OMIM:620132 ZSWIM5 skos:exactMatch hgnc.symbol:ZSWIM5 semapv:UnspecifiedMatching OMIM:620132 ZSWIM5 skos:exactMatch ncbigene:57643 semapv:UnspecifiedMatching -OMIM:620134 PLEKHG1 skos:exactMatch hgnc:PLEKHG1 semapv:UnspecifiedMatching +OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:20884 semapv:UnspecifiedMatching +OMIM:620134 PLEKHG1 skos:exactMatch hgnc.symbol:PLEKHG1 semapv:UnspecifiedMatching OMIM:620134 PLEKHG1 skos:exactMatch ncbigene:57480 semapv:UnspecifiedMatching -OMIM:620136 NUDCD2 skos:exactMatch hgnc:NUDCD2 semapv:UnspecifiedMatching +OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:30535 semapv:UnspecifiedMatching +OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:NUDCD2 semapv:UnspecifiedMatching OMIM:620136 NUDCD2 skos:exactMatch ncbigene:134492 semapv:UnspecifiedMatching -OMIM:620140 SYCN skos:exactMatch hgnc:SYCN semapv:UnspecifiedMatching +OMIM:620140 SYCN skos:exactMatch hgnc.symbol:18442 semapv:UnspecifiedMatching +OMIM:620140 SYCN skos:exactMatch hgnc.symbol:SYCN semapv:UnspecifiedMatching OMIM:620140 SYCN skos:exactMatch ncbigene:342898 semapv:UnspecifiedMatching -OMIM:620142 CENATAC skos:exactMatch hgnc:CENATAC semapv:UnspecifiedMatching +OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:30460 semapv:UnspecifiedMatching +OMIM:620142 CENATAC skos:exactMatch hgnc.symbol:CENATAC semapv:UnspecifiedMatching OMIM:620142 CENATAC skos:exactMatch ncbigene:338657 semapv:UnspecifiedMatching -OMIM:620143 TMEM232 skos:exactMatch hgnc:TMEM232 semapv:UnspecifiedMatching +OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:37270 semapv:UnspecifiedMatching +OMIM:620143 TMEM232 skos:exactMatch hgnc.symbol:TMEM232 semapv:UnspecifiedMatching OMIM:620143 TMEM232 skos:exactMatch ncbigene:642987 semapv:UnspecifiedMatching -OMIM:620144 CACHD1 skos:exactMatch hgnc:CACHD1 semapv:UnspecifiedMatching +OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:29314 semapv:UnspecifiedMatching +OMIM:620144 CACHD1 skos:exactMatch hgnc.symbol:CACHD1 semapv:UnspecifiedMatching OMIM:620144 CACHD1 skos:exactMatch ncbigene:57685 semapv:UnspecifiedMatching -OMIM:620146 CRYBG3 skos:exactMatch hgnc:CRYBG3 semapv:UnspecifiedMatching +OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:34427 semapv:UnspecifiedMatching +OMIM:620146 CRYBG3 skos:exactMatch hgnc.symbol:CRYBG3 semapv:UnspecifiedMatching OMIM:620146 CRYBG3 skos:exactMatch ncbigene:131544 semapv:UnspecifiedMatching -OMIM:620147 RBM46 skos:exactMatch hgnc:RBM46 semapv:UnspecifiedMatching +OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:28401 semapv:UnspecifiedMatching +OMIM:620147 RBM46 skos:exactMatch hgnc.symbol:RBM46 semapv:UnspecifiedMatching OMIM:620147 RBM46 skos:exactMatch ncbigene:166863 semapv:UnspecifiedMatching -OMIM:620159 PNMA8B skos:exactMatch hgnc:PNMA8B semapv:UnspecifiedMatching +OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:29206 semapv:UnspecifiedMatching +OMIM:620159 PNMA8B skos:exactMatch hgnc.symbol:PNMA8B semapv:UnspecifiedMatching OMIM:620159 PNMA8B skos:exactMatch ncbigene:57469 semapv:UnspecifiedMatching -OMIM:620160 IQCN skos:exactMatch hgnc:IQCN semapv:UnspecifiedMatching +OMIM:620160 IQCN skos:exactMatch hgnc.symbol:29350 semapv:UnspecifiedMatching +OMIM:620160 IQCN skos:exactMatch hgnc.symbol:IQCN semapv:UnspecifiedMatching OMIM:620160 IQCN skos:exactMatch ncbigene:80726 semapv:UnspecifiedMatching -OMIM:620162 ZNF471 skos:exactMatch hgnc:ZNF471 semapv:UnspecifiedMatching +OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:23226 semapv:UnspecifiedMatching +OMIM:620162 ZNF471 skos:exactMatch hgnc.symbol:ZNF471 semapv:UnspecifiedMatching OMIM:620162 ZNF471 skos:exactMatch ncbigene:57573 semapv:UnspecifiedMatching -OMIM:620163 ZFP14 skos:exactMatch hgnc:ZFP14 semapv:UnspecifiedMatching +OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:29312 semapv:UnspecifiedMatching +OMIM:620163 ZFP14 skos:exactMatch hgnc.symbol:ZFP14 semapv:UnspecifiedMatching OMIM:620163 ZFP14 skos:exactMatch ncbigene:57677 semapv:UnspecifiedMatching -OMIM:620164 ZBTB26 skos:exactMatch hgnc:ZBTB26 semapv:UnspecifiedMatching +OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:23383 semapv:UnspecifiedMatching +OMIM:620164 ZBTB26 skos:exactMatch hgnc.symbol:ZBTB26 semapv:UnspecifiedMatching OMIM:620164 ZBTB26 skos:exactMatch ncbigene:57684 semapv:UnspecifiedMatching -OMIM:620165 LRCH4 skos:exactMatch hgnc:LRCH4 semapv:UnspecifiedMatching +OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:6691 semapv:UnspecifiedMatching +OMIM:620165 LRCH4 skos:exactMatch hgnc.symbol:LRCH4 semapv:UnspecifiedMatching OMIM:620165 LRCH4 skos:exactMatch ncbigene:4034 semapv:UnspecifiedMatching -OMIM:620168 ATOSA skos:exactMatch hgnc:ATOSA semapv:UnspecifiedMatching +OMIM:620168 ATOSA skos:exactMatch hgnc.symbol:ATOSA semapv:UnspecifiedMatching OMIM:620168 ATOSA skos:exactMatch ncbigene:56204 semapv:UnspecifiedMatching -OMIM:620169 ATOSB skos:exactMatch hgnc:ATOSB semapv:UnspecifiedMatching +OMIM:620169 ATOSB skos:exactMatch hgnc.symbol:ATOSB semapv:UnspecifiedMatching OMIM:620169 ATOSB skos:exactMatch ncbigene:80256 semapv:UnspecifiedMatching -OMIM:620171 NHSL1 skos:exactMatch hgnc:NHSL1 semapv:UnspecifiedMatching +OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:21021 semapv:UnspecifiedMatching +OMIM:620171 NHSL1 skos:exactMatch hgnc.symbol:NHSL1 semapv:UnspecifiedMatching OMIM:620171 NHSL1 skos:exactMatch ncbigene:57224 semapv:UnspecifiedMatching -OMIM:620172 NWD2 skos:exactMatch hgnc:NWD2 semapv:UnspecifiedMatching +OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:29229 semapv:UnspecifiedMatching +OMIM:620172 NWD2 skos:exactMatch hgnc.symbol:NWD2 semapv:UnspecifiedMatching OMIM:620172 NWD2 skos:exactMatch ncbigene:57495 semapv:UnspecifiedMatching -OMIM:620175 RUBCNL skos:exactMatch hgnc:RUBCNL semapv:UnspecifiedMatching +OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:20420 semapv:UnspecifiedMatching +OMIM:620175 RUBCNL skos:exactMatch hgnc.symbol:RUBCNL semapv:UnspecifiedMatching OMIM:620175 RUBCNL skos:exactMatch ncbigene:80183 semapv:UnspecifiedMatching -OMIM:620176 DDX55 skos:exactMatch hgnc:DDX55 semapv:UnspecifiedMatching +OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:20085 semapv:UnspecifiedMatching +OMIM:620176 DDX55 skos:exactMatch hgnc.symbol:DDX55 semapv:UnspecifiedMatching OMIM:620176 DDX55 skos:exactMatch ncbigene:57696 semapv:UnspecifiedMatching -OMIM:620178 GRAMD1A skos:exactMatch hgnc:GRAMD1A semapv:UnspecifiedMatching +OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:29305 semapv:UnspecifiedMatching +OMIM:620178 GRAMD1A skos:exactMatch hgnc.symbol:GRAMD1A semapv:UnspecifiedMatching OMIM:620178 GRAMD1A skos:exactMatch ncbigene:57655 semapv:UnspecifiedMatching -OMIM:620179 GRAMD1B skos:exactMatch hgnc:GRAMD1B semapv:UnspecifiedMatching +OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:29214 semapv:UnspecifiedMatching +OMIM:620179 GRAMD1B skos:exactMatch hgnc.symbol:GRAMD1B semapv:UnspecifiedMatching OMIM:620179 GRAMD1B skos:exactMatch ncbigene:57476 semapv:UnspecifiedMatching -OMIM:620180 GRAMD1C skos:exactMatch hgnc:GRAMD1C semapv:UnspecifiedMatching +OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:25252 semapv:UnspecifiedMatching +OMIM:620180 GRAMD1C skos:exactMatch hgnc.symbol:GRAMD1C semapv:UnspecifiedMatching OMIM:620180 GRAMD1C skos:exactMatch ncbigene:54762 semapv:UnspecifiedMatching -OMIM:620181 GRAMD2A skos:exactMatch hgnc:GRAMD2A semapv:UnspecifiedMatching +OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:27287 semapv:UnspecifiedMatching +OMIM:620181 GRAMD2A skos:exactMatch hgnc.symbol:GRAMD2A semapv:UnspecifiedMatching OMIM:620181 GRAMD2A skos:exactMatch ncbigene:196996 semapv:UnspecifiedMatching -OMIM:620182 GRAMD2B skos:exactMatch hgnc:GRAMD2B semapv:UnspecifiedMatching +OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:24911 semapv:UnspecifiedMatching +OMIM:620182 GRAMD2B skos:exactMatch hgnc.symbol:GRAMD2B semapv:UnspecifiedMatching OMIM:620182 GRAMD2B skos:exactMatch ncbigene:65983 semapv:UnspecifiedMatching -OMIM:620187 CFAP74 skos:exactMatch hgnc:CFAP74 semapv:UnspecifiedMatching +OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:29368 semapv:UnspecifiedMatching +OMIM:620187 CFAP74 skos:exactMatch hgnc.symbol:CFAP74 semapv:UnspecifiedMatching OMIM:620187 CFAP74 skos:exactMatch ncbigene:85452 semapv:UnspecifiedMatching -OMIM:620188 TANGO6 skos:exactMatch hgnc:TANGO6 semapv:UnspecifiedMatching +OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:25749 semapv:UnspecifiedMatching +OMIM:620188 TANGO6 skos:exactMatch hgnc.symbol:TANGO6 semapv:UnspecifiedMatching OMIM:620188 TANGO6 skos:exactMatch ncbigene:79613 semapv:UnspecifiedMatching -OMIM:620190 ABHD16B skos:exactMatch hgnc:ABHD16B semapv:UnspecifiedMatching +OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:16128 semapv:UnspecifiedMatching +OMIM:620190 ABHD16B skos:exactMatch hgnc.symbol:ABHD16B semapv:UnspecifiedMatching OMIM:620190 ABHD16B skos:exactMatch ncbigene:140701 semapv:UnspecifiedMatching -OMIM:620202 VAT1L skos:exactMatch hgnc:VAT1L semapv:UnspecifiedMatching +OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:29315 semapv:UnspecifiedMatching +OMIM:620202 VAT1L skos:exactMatch hgnc.symbol:VAT1L semapv:UnspecifiedMatching OMIM:620202 VAT1L skos:exactMatch ncbigene:57687 semapv:UnspecifiedMatching -OMIM:620204 RNU12 skos:exactMatch hgnc:RNU12 semapv:UnspecifiedMatching +OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:19380 semapv:UnspecifiedMatching +OMIM:620204 RNU12 skos:exactMatch hgnc.symbol:RNU12 semapv:UnspecifiedMatching OMIM:620204 RNU12 skos:exactMatch ncbigene:267010 semapv:UnspecifiedMatching -OMIM:620205 ITPRIP skos:exactMatch hgnc:ITPRIP semapv:UnspecifiedMatching +OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:29370 semapv:UnspecifiedMatching +OMIM:620205 ITPRIP skos:exactMatch hgnc.symbol:ITPRIP semapv:UnspecifiedMatching OMIM:620205 ITPRIP skos:exactMatch ncbigene:85450 semapv:UnspecifiedMatching -OMIM:620206 SAMD1 skos:exactMatch hgnc:SAMD1 semapv:UnspecifiedMatching +OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:17958 semapv:UnspecifiedMatching +OMIM:620206 SAMD1 skos:exactMatch hgnc.symbol:SAMD1 semapv:UnspecifiedMatching OMIM:620206 SAMD1 skos:exactMatch ncbigene:90378 semapv:UnspecifiedMatching -OMIM:620209 HECTD4 skos:exactMatch hgnc:HECTD4 semapv:UnspecifiedMatching +OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:26611 semapv:UnspecifiedMatching +OMIM:620209 HECTD4 skos:exactMatch hgnc.symbol:HECTD4 semapv:UnspecifiedMatching OMIM:620209 HECTD4 skos:exactMatch ncbigene:283450 semapv:UnspecifiedMatching -OMIM:620212 SBK1 skos:exactMatch hgnc:SBK1 semapv:UnspecifiedMatching +OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:17699 semapv:UnspecifiedMatching +OMIM:620212 SBK1 skos:exactMatch hgnc.symbol:SBK1 semapv:UnspecifiedMatching OMIM:620212 SBK1 skos:exactMatch ncbigene:388228 semapv:UnspecifiedMatching -OMIM:620213 SANBR skos:exactMatch hgnc:SANBR semapv:UnspecifiedMatching +OMIM:620213 SANBR skos:exactMatch hgnc.symbol:29387 semapv:UnspecifiedMatching +OMIM:620213 SANBR skos:exactMatch hgnc.symbol:SANBR semapv:UnspecifiedMatching OMIM:620213 SANBR skos:exactMatch ncbigene:84542 semapv:UnspecifiedMatching -OMIM:620214 HHIPL2 skos:exactMatch hgnc:HHIPL2 semapv:UnspecifiedMatching +OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:25842 semapv:UnspecifiedMatching +OMIM:620214 HHIPL2 skos:exactMatch hgnc.symbol:HHIPL2 semapv:UnspecifiedMatching OMIM:620214 HHIPL2 skos:exactMatch ncbigene:79802 semapv:UnspecifiedMatching -OMIM:620215 MINAR2 skos:exactMatch hgnc:MINAR2 semapv:UnspecifiedMatching +OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:33914 semapv:UnspecifiedMatching +OMIM:620215 MINAR2 skos:exactMatch hgnc.symbol:MINAR2 semapv:UnspecifiedMatching OMIM:620215 MINAR2 skos:exactMatch ncbigene:100127206 semapv:UnspecifiedMatching -OMIM:620216 SLC5A9 skos:exactMatch hgnc:SLC5A9 semapv:UnspecifiedMatching +OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:22146 semapv:UnspecifiedMatching +OMIM:620216 SLC5A9 skos:exactMatch hgnc.symbol:SLC5A9 semapv:UnspecifiedMatching OMIM:620216 SLC5A9 skos:exactMatch ncbigene:200010 semapv:UnspecifiedMatching -OMIM:620217 CEP44 skos:exactMatch hgnc:CEP44 semapv:UnspecifiedMatching +OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:29356 semapv:UnspecifiedMatching +OMIM:620217 CEP44 skos:exactMatch hgnc.symbol:CEP44 semapv:UnspecifiedMatching OMIM:620217 CEP44 skos:exactMatch ncbigene:80817 semapv:UnspecifiedMatching -OMIM:620218 SHISAL2A skos:exactMatch hgnc:SHISAL2A semapv:UnspecifiedMatching +OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:28757 semapv:UnspecifiedMatching +OMIM:620218 SHISAL2A skos:exactMatch hgnc.symbol:SHISAL2A semapv:UnspecifiedMatching OMIM:620218 SHISAL2A skos:exactMatch ncbigene:348378 semapv:UnspecifiedMatching -OMIM:620219 SHISAL2B skos:exactMatch hgnc:SHISAL2B semapv:UnspecifiedMatching +OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:34236 semapv:UnspecifiedMatching +OMIM:620219 SHISAL2B skos:exactMatch hgnc.symbol:SHISAL2B semapv:UnspecifiedMatching OMIM:620219 SHISAL2B skos:exactMatch ncbigene:100132916 semapv:UnspecifiedMatching -OMIM:620220 SHISAL1 skos:exactMatch hgnc:SHISAL1 semapv:UnspecifiedMatching +OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:29335 semapv:UnspecifiedMatching +OMIM:620220 SHISAL1 skos:exactMatch hgnc.symbol:SHISAL1 semapv:UnspecifiedMatching OMIM:620220 SHISAL1 skos:exactMatch ncbigene:85352 semapv:UnspecifiedMatching -OMIM:620223 ELFN2 skos:exactMatch hgnc:ELFN2 semapv:UnspecifiedMatching +OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:29396 semapv:UnspecifiedMatching +OMIM:620223 ELFN2 skos:exactMatch hgnc.symbol:ELFN2 semapv:UnspecifiedMatching OMIM:620223 ELFN2 skos:exactMatch ncbigene:114794 semapv:UnspecifiedMatching -OMIM:620225 SOGA1 skos:exactMatch hgnc:MTCL2 semapv:UnspecifiedMatching +OMIM:620225 SOGA1 skos:exactMatch hgnc.symbol:MTCL2 semapv:UnspecifiedMatching OMIM:620225 SOGA1 skos:exactMatch ncbigene:140710 semapv:UnspecifiedMatching -OMIM:620226 USP37 skos:exactMatch hgnc:USP37 semapv:UnspecifiedMatching +OMIM:620226 USP37 skos:exactMatch hgnc.symbol:20063 semapv:UnspecifiedMatching +OMIM:620226 USP37 skos:exactMatch hgnc.symbol:USP37 semapv:UnspecifiedMatching OMIM:620226 USP37 skos:exactMatch ncbigene:57695 semapv:UnspecifiedMatching -OMIM:620229 FHIP1B skos:exactMatch hgnc:FHIP1B semapv:UnspecifiedMatching +OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:25378 semapv:UnspecifiedMatching +OMIM:620229 FHIP1B skos:exactMatch hgnc.symbol:FHIP1B semapv:UnspecifiedMatching OMIM:620229 FHIP1B skos:exactMatch ncbigene:84067 semapv:UnspecifiedMatching -OMIM:620230 FHIP2B skos:exactMatch hgnc:FHIP2B semapv:UnspecifiedMatching +OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:16492 semapv:UnspecifiedMatching +OMIM:620230 FHIP2B skos:exactMatch hgnc.symbol:FHIP2B semapv:UnspecifiedMatching OMIM:620230 FHIP2B skos:exactMatch ncbigene:64760 semapv:UnspecifiedMatching -OMIM:620234 ANKRD24 skos:exactMatch hgnc:ANKRD24 semapv:UnspecifiedMatching +OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:29424 semapv:UnspecifiedMatching +OMIM:620234 ANKRD24 skos:exactMatch hgnc.symbol:ANKRD24 semapv:UnspecifiedMatching OMIM:620234 ANKRD24 skos:exactMatch ncbigene:170961 semapv:UnspecifiedMatching -OMIM:620239 B3GALT9 skos:exactMatch hgnc:B3GALT9 semapv:UnspecifiedMatching +OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:53652 semapv:UnspecifiedMatching +OMIM:620239 B3GALT9 skos:exactMatch hgnc.symbol:B3GALT9 semapv:UnspecifiedMatching OMIM:620239 B3GALT9 skos:exactMatch ncbigene:100288842 semapv:UnspecifiedMatching -OMIM:620248 TMEM80 skos:exactMatch hgnc:TMEM80 semapv:UnspecifiedMatching +OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:27453 semapv:UnspecifiedMatching +OMIM:620248 TMEM80 skos:exactMatch hgnc.symbol:TMEM80 semapv:UnspecifiedMatching OMIM:620248 TMEM80 skos:exactMatch ncbigene:283232 semapv:UnspecifiedMatching -OMIM:620251 CEP170B skos:exactMatch hgnc:CEP170B semapv:UnspecifiedMatching +OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:20362 semapv:UnspecifiedMatching +OMIM:620251 CEP170B skos:exactMatch hgnc.symbol:CEP170B semapv:UnspecifiedMatching OMIM:620251 CEP170B skos:exactMatch ncbigene:283638 semapv:UnspecifiedMatching -OMIM:620252 TMEM245 skos:exactMatch hgnc:TMEM245 semapv:UnspecifiedMatching +OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:1363 semapv:UnspecifiedMatching +OMIM:620252 TMEM245 skos:exactMatch hgnc.symbol:TMEM245 semapv:UnspecifiedMatching OMIM:620252 TMEM245 skos:exactMatch ncbigene:23731 semapv:UnspecifiedMatching -OMIM:620254 RNFT2 skos:exactMatch hgnc:RNFT2 semapv:UnspecifiedMatching +OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:25905 semapv:UnspecifiedMatching +OMIM:620254 RNFT2 skos:exactMatch hgnc.symbol:RNFT2 semapv:UnspecifiedMatching OMIM:620254 RNFT2 skos:exactMatch ncbigene:84900 semapv:UnspecifiedMatching -OMIM:620255 MFSD13A skos:exactMatch hgnc:MFSD13A semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:26196 semapv:UnspecifiedMatching +OMIM:620255 MFSD13A skos:exactMatch hgnc.symbol:MFSD13A semapv:UnspecifiedMatching OMIM:620255 MFSD13A skos:exactMatch ncbigene:79847 semapv:UnspecifiedMatching -OMIM:620256 CLRN3 skos:exactMatch hgnc:CLRN3 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:20795 semapv:UnspecifiedMatching +OMIM:620256 CLRN3 skos:exactMatch hgnc.symbol:CLRN3 semapv:UnspecifiedMatching OMIM:620256 CLRN3 skos:exactMatch ncbigene:119467 semapv:UnspecifiedMatching -OMIM:620257 TMEM158 skos:exactMatch hgnc:TMEM158 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:30293 semapv:UnspecifiedMatching +OMIM:620257 TMEM158 skos:exactMatch hgnc.symbol:TMEM158 semapv:UnspecifiedMatching OMIM:620257 TMEM158 skos:exactMatch ncbigene:25907 semapv:UnspecifiedMatching -OMIM:620258 TMEM160 skos:exactMatch hgnc:TMEM160 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:26042 semapv:UnspecifiedMatching +OMIM:620258 TMEM160 skos:exactMatch hgnc.symbol:TMEM160 semapv:UnspecifiedMatching OMIM:620258 TMEM160 skos:exactMatch ncbigene:54958 semapv:UnspecifiedMatching -OMIM:620259 ANKRD18A skos:exactMatch hgnc:ANKRD18A semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:23643 semapv:UnspecifiedMatching +OMIM:620259 ANKRD18A skos:exactMatch hgnc.symbol:ANKRD18A semapv:UnspecifiedMatching OMIM:620259 ANKRD18A skos:exactMatch ncbigene:253650 semapv:UnspecifiedMatching -OMIM:620260 TMEM132B skos:exactMatch hgnc:TMEM132B semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:29397 semapv:UnspecifiedMatching +OMIM:620260 TMEM132B skos:exactMatch hgnc.symbol:TMEM132B semapv:UnspecifiedMatching OMIM:620260 TMEM132B skos:exactMatch ncbigene:114795 semapv:UnspecifiedMatching -OMIM:620261 EMC6 skos:exactMatch hgnc:EMC6 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:28430 semapv:UnspecifiedMatching +OMIM:620261 EMC6 skos:exactMatch hgnc.symbol:EMC6 semapv:UnspecifiedMatching OMIM:620261 EMC6 skos:exactMatch ncbigene:83460 semapv:UnspecifiedMatching -OMIM:620262 ANKRD36 skos:exactMatch hgnc:ANKRD36 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:24079 semapv:UnspecifiedMatching +OMIM:620262 ANKRD36 skos:exactMatch hgnc.symbol:ANKRD36 semapv:UnspecifiedMatching OMIM:620262 ANKRD36 skos:exactMatch ncbigene:375248 semapv:UnspecifiedMatching -OMIM:620263 OOSP2 skos:exactMatch hgnc:OOSP2 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:26699 semapv:UnspecifiedMatching +OMIM:620263 OOSP2 skos:exactMatch hgnc.symbol:OOSP2 semapv:UnspecifiedMatching OMIM:620263 OOSP2 skos:exactMatch ncbigene:219990 semapv:UnspecifiedMatching -OMIM:620264 PGAP4 skos:exactMatch hgnc:PGAP4 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:28180 semapv:UnspecifiedMatching +OMIM:620264 PGAP4 skos:exactMatch hgnc.symbol:PGAP4 semapv:UnspecifiedMatching OMIM:620264 PGAP4 skos:exactMatch ncbigene:84302 semapv:UnspecifiedMatching -OMIM:620266 RIMOC1 skos:exactMatch hgnc:RIMOC1 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:27750 semapv:UnspecifiedMatching +OMIM:620266 RIMOC1 skos:exactMatch hgnc.symbol:RIMOC1 semapv:UnspecifiedMatching OMIM:620266 RIMOC1 skos:exactMatch ncbigene:285636 semapv:UnspecifiedMatching -OMIM:620267 RMC1 skos:exactMatch hgnc:RMC1 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:24326 semapv:UnspecifiedMatching +OMIM:620267 RMC1 skos:exactMatch hgnc.symbol:RMC1 semapv:UnspecifiedMatching OMIM:620267 RMC1 skos:exactMatch ncbigene:29919 semapv:UnspecifiedMatching -OMIM:620268 FHDC1 skos:exactMatch hgnc:FHDC1 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:29363 semapv:UnspecifiedMatching +OMIM:620268 FHDC1 skos:exactMatch hgnc.symbol:FHDC1 semapv:UnspecifiedMatching OMIM:620268 FHDC1 skos:exactMatch ncbigene:85462 semapv:UnspecifiedMatching -OMIM:620271 TMEM41B skos:exactMatch hgnc:TMEM41B semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:28948 semapv:UnspecifiedMatching +OMIM:620271 TMEM41B skos:exactMatch hgnc.symbol:TMEM41B semapv:UnspecifiedMatching OMIM:620271 TMEM41B skos:exactMatch ncbigene:440026 semapv:UnspecifiedMatching -OMIM:620272 TMEM235 skos:exactMatch hgnc:TMEM235 semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:27563 semapv:UnspecifiedMatching +OMIM:620272 TMEM235 skos:exactMatch hgnc.symbol:TMEM235 semapv:UnspecifiedMatching OMIM:620272 TMEM235 skos:exactMatch ncbigene:283999 semapv:UnspecifiedMatching -OMIM:620273 EMC3 skos:exactMatch hgnc:EMC3 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:23999 semapv:UnspecifiedMatching +OMIM:620273 EMC3 skos:exactMatch hgnc.symbol:EMC3 semapv:UnspecifiedMatching OMIM:620273 EMC3 skos:exactMatch ncbigene:55831 semapv:UnspecifiedMatching -OMIM:620274 WDR87 skos:exactMatch hgnc:WDR87 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:29934 semapv:UnspecifiedMatching +OMIM:620274 WDR87 skos:exactMatch hgnc.symbol:WDR87 semapv:UnspecifiedMatching OMIM:620274 WDR87 skos:exactMatch ncbigene:83889 semapv:UnspecifiedMatching -OMIM:620279 DAW1 skos:exactMatch hgnc:DAW1 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:26383 semapv:UnspecifiedMatching +OMIM:620279 DAW1 skos:exactMatch hgnc.symbol:DAW1 semapv:UnspecifiedMatching OMIM:620279 DAW1 skos:exactMatch ncbigene:164781 semapv:UnspecifiedMatching -OMIM:620287 TMEM71 skos:exactMatch hgnc:TMEM71 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:26572 semapv:UnspecifiedMatching +OMIM:620287 TMEM71 skos:exactMatch hgnc.symbol:TMEM71 semapv:UnspecifiedMatching OMIM:620287 TMEM71 skos:exactMatch ncbigene:137835 semapv:UnspecifiedMatching -OMIM:620288 TEDDM1 skos:exactMatch hgnc:TEDDM1 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:30233 semapv:UnspecifiedMatching +OMIM:620288 TEDDM1 skos:exactMatch hgnc.symbol:TEDDM1 semapv:UnspecifiedMatching OMIM:620288 TEDDM1 skos:exactMatch ncbigene:127670 semapv:UnspecifiedMatching -OMIM:620289 TMEM234 skos:exactMatch hgnc:TMEM234 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:28837 semapv:UnspecifiedMatching +OMIM:620289 TMEM234 skos:exactMatch hgnc.symbol:TMEM234 semapv:UnspecifiedMatching OMIM:620289 TMEM234 skos:exactMatch ncbigene:56063 semapv:UnspecifiedMatching -OMIM:620290 TMEM219 skos:exactMatch hgnc:TMEM219 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:25201 semapv:UnspecifiedMatching +OMIM:620290 TMEM219 skos:exactMatch hgnc.symbol:TMEM219 semapv:UnspecifiedMatching OMIM:620290 TMEM219 skos:exactMatch ncbigene:124446 semapv:UnspecifiedMatching -OMIM:620291 WDR18 skos:exactMatch hgnc:WDR18 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:17956 semapv:UnspecifiedMatching +OMIM:620291 WDR18 skos:exactMatch hgnc.symbol:WDR18 semapv:UnspecifiedMatching OMIM:620291 WDR18 skos:exactMatch ncbigene:57418 semapv:UnspecifiedMatching -OMIM:620293 TMEM9B skos:exactMatch hgnc:TMEM9B semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:1168 semapv:UnspecifiedMatching +OMIM:620293 TMEM9B skos:exactMatch hgnc.symbol:TMEM9B semapv:UnspecifiedMatching OMIM:620293 TMEM9B skos:exactMatch ncbigene:56674 semapv:UnspecifiedMatching -OMIM:620295 DCAF10 skos:exactMatch hgnc:DCAF10 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:23686 semapv:UnspecifiedMatching +OMIM:620295 DCAF10 skos:exactMatch hgnc.symbol:DCAF10 semapv:UnspecifiedMatching OMIM:620295 DCAF10 skos:exactMatch ncbigene:79269 semapv:UnspecifiedMatching -OMIM:620297 SLC35A4 skos:exactMatch hgnc:SLC35A4 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:20753 semapv:UnspecifiedMatching +OMIM:620297 SLC35A4 skos:exactMatch hgnc.symbol:SLC35A4 semapv:UnspecifiedMatching OMIM:620297 SLC35A4 skos:exactMatch ncbigene:113829 semapv:UnspecifiedMatching -OMIM:620298 SLC35A5 skos:exactMatch hgnc:SLC35A5 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:20792 semapv:UnspecifiedMatching +OMIM:620298 SLC35A5 skos:exactMatch hgnc.symbol:SLC35A5 semapv:UnspecifiedMatching OMIM:620298 SLC35A5 skos:exactMatch ncbigene:55032 semapv:UnspecifiedMatching -OMIM:620299 MFSD4A skos:exactMatch hgnc:MFSD4A semapv:UnspecifiedMatching +OMIM:620299 MFSD4A skos:exactMatch hgnc.symbol:25433 semapv:UnspecifiedMatching +OMIM:620299 MFSD4A skos:exactMatch hgnc.symbol:MFSD4A semapv:UnspecifiedMatching OMIM:620299 MFSD4A skos:exactMatch ncbigene:148808 semapv:UnspecifiedMatching -OMIM:620301 MFSD9 skos:exactMatch hgnc:MFSD9 semapv:UnspecifiedMatching +OMIM:620301 MFSD9 skos:exactMatch hgnc.symbol:28158 semapv:UnspecifiedMatching +OMIM:620301 MFSD9 skos:exactMatch hgnc.symbol:MFSD9 semapv:UnspecifiedMatching OMIM:620301 MFSD9 skos:exactMatch ncbigene:84804 semapv:UnspecifiedMatching -OMIM:620302 WDR76 skos:exactMatch hgnc:WDR76 semapv:UnspecifiedMatching +OMIM:620302 WDR76 skos:exactMatch hgnc.symbol:25773 semapv:UnspecifiedMatching +OMIM:620302 WDR76 skos:exactMatch hgnc.symbol:WDR76 semapv:UnspecifiedMatching OMIM:620302 WDR76 skos:exactMatch ncbigene:79968 semapv:UnspecifiedMatching -OMIM:620304 NOL9 skos:exactMatch hgnc:NOL9 semapv:UnspecifiedMatching +OMIM:620304 NOL9 skos:exactMatch hgnc.symbol:26265 semapv:UnspecifiedMatching +OMIM:620304 NOL9 skos:exactMatch hgnc.symbol:NOL9 semapv:UnspecifiedMatching OMIM:620304 NOL9 skos:exactMatch ncbigene:79707 semapv:UnspecifiedMatching -OMIM:620307 WDR24 skos:exactMatch hgnc:WDR24 semapv:UnspecifiedMatching +OMIM:620307 WDR24 skos:exactMatch hgnc.symbol:20852 semapv:UnspecifiedMatching +OMIM:620307 WDR24 skos:exactMatch hgnc.symbol:WDR24 semapv:UnspecifiedMatching OMIM:620307 WDR24 skos:exactMatch ncbigene:84219 semapv:UnspecifiedMatching -OMIM:620308 MFSD3 skos:exactMatch hgnc:MFSD3 semapv:UnspecifiedMatching +OMIM:620308 MFSD3 skos:exactMatch hgnc.symbol:25157 semapv:UnspecifiedMatching +OMIM:620308 MFSD3 skos:exactMatch hgnc.symbol:MFSD3 semapv:UnspecifiedMatching OMIM:620308 MFSD3 skos:exactMatch ncbigene:113655 semapv:UnspecifiedMatching -OMIM:620309 FAM171B skos:exactMatch hgnc:FAM171B semapv:UnspecifiedMatching +OMIM:620309 FAM171B skos:exactMatch hgnc.symbol:29412 semapv:UnspecifiedMatching +OMIM:620309 FAM171B skos:exactMatch hgnc.symbol:FAM171B semapv:UnspecifiedMatching OMIM:620309 FAM171B skos:exactMatch ncbigene:165215 semapv:UnspecifiedMatching -OMIM:620318 SLC49A3 skos:exactMatch hgnc:SLC49A3 semapv:UnspecifiedMatching +OMIM:620318 SLC49A3 skos:exactMatch hgnc.symbol:26177 semapv:UnspecifiedMatching +OMIM:620318 SLC49A3 skos:exactMatch hgnc.symbol:SLC49A3 semapv:UnspecifiedMatching OMIM:620318 SLC49A3 skos:exactMatch ncbigene:84179 semapv:UnspecifiedMatching -OMIM:620324 SLC15A5 skos:exactMatch hgnc:SLC15A5 semapv:UnspecifiedMatching +OMIM:620324 SLC15A5 skos:exactMatch hgnc.symbol:33455 semapv:UnspecifiedMatching +OMIM:620324 SLC15A5 skos:exactMatch hgnc.symbol:SLC15A5 semapv:UnspecifiedMatching OMIM:620324 SLC15A5 skos:exactMatch ncbigene:729025 semapv:UnspecifiedMatching -OMIM:620325 TMEM144 skos:exactMatch hgnc:TMEM144 semapv:UnspecifiedMatching +OMIM:620325 TMEM144 skos:exactMatch hgnc.symbol:25633 semapv:UnspecifiedMatching +OMIM:620325 TMEM144 skos:exactMatch hgnc.symbol:TMEM144 semapv:UnspecifiedMatching OMIM:620325 TMEM144 skos:exactMatch ncbigene:55314 semapv:UnspecifiedMatching -OMIM:620328 SLC44A3 skos:exactMatch hgnc:SLC44A3 semapv:UnspecifiedMatching +OMIM:620328 SLC44A3 skos:exactMatch hgnc.symbol:28689 semapv:UnspecifiedMatching +OMIM:620328 SLC44A3 skos:exactMatch hgnc.symbol:SLC44A3 semapv:UnspecifiedMatching OMIM:620328 SLC44A3 skos:exactMatch ncbigene:126969 semapv:UnspecifiedMatching -OMIM:620329 SLC44A5 skos:exactMatch hgnc:SLC44A5 semapv:UnspecifiedMatching +OMIM:620329 SLC44A5 skos:exactMatch hgnc.symbol:28524 semapv:UnspecifiedMatching +OMIM:620329 SLC44A5 skos:exactMatch hgnc.symbol:SLC44A5 semapv:UnspecifiedMatching OMIM:620329 SLC44A5 skos:exactMatch ncbigene:204962 semapv:UnspecifiedMatching -OMIM:620334 TRIM42 skos:exactMatch hgnc:TRIM42 semapv:UnspecifiedMatching +OMIM:620334 TRIM42 skos:exactMatch hgnc.symbol:19014 semapv:UnspecifiedMatching +OMIM:620334 TRIM42 skos:exactMatch hgnc.symbol:TRIM42 semapv:UnspecifiedMatching OMIM:620334 TRIM42 skos:exactMatch ncbigene:287015 semapv:UnspecifiedMatching -OMIM:620335 CDC20B skos:exactMatch hgnc:CDC20B semapv:UnspecifiedMatching +OMIM:620335 CDC20B skos:exactMatch hgnc.symbol:24222 semapv:UnspecifiedMatching +OMIM:620335 CDC20B skos:exactMatch hgnc.symbol:CDC20B semapv:UnspecifiedMatching OMIM:620335 CDC20B skos:exactMatch ncbigene:166979 semapv:UnspecifiedMatching -OMIM:620336 ZSWIM3 skos:exactMatch hgnc:ZSWIM3 semapv:UnspecifiedMatching +OMIM:620336 ZSWIM3 skos:exactMatch hgnc.symbol:16157 semapv:UnspecifiedMatching +OMIM:620336 ZSWIM3 skos:exactMatch hgnc.symbol:ZSWIM3 semapv:UnspecifiedMatching OMIM:620336 ZSWIM3 skos:exactMatch ncbigene:140831 semapv:UnspecifiedMatching -OMIM:620337 SLC35E1 skos:exactMatch hgnc:SLC35E1 semapv:UnspecifiedMatching +OMIM:620337 SLC35E1 skos:exactMatch hgnc.symbol:20803 semapv:UnspecifiedMatching +OMIM:620337 SLC35E1 skos:exactMatch hgnc.symbol:SLC35E1 semapv:UnspecifiedMatching OMIM:620337 SLC35E1 skos:exactMatch ncbigene:79939 semapv:UnspecifiedMatching -OMIM:620338 SLC9C2 skos:exactMatch hgnc:SLC9C2 semapv:UnspecifiedMatching +OMIM:620338 SLC9C2 skos:exactMatch hgnc.symbol:28664 semapv:UnspecifiedMatching +OMIM:620338 SLC9C2 skos:exactMatch hgnc.symbol:SLC9C2 semapv:UnspecifiedMatching OMIM:620338 SLC9C2 skos:exactMatch ncbigene:284525 semapv:UnspecifiedMatching -OMIM:620339 SLC23A3 skos:exactMatch hgnc:SLC23A3 semapv:UnspecifiedMatching +OMIM:620339 SLC23A3 skos:exactMatch hgnc.symbol:20601 semapv:UnspecifiedMatching +OMIM:620339 SLC23A3 skos:exactMatch hgnc.symbol:SLC23A3 semapv:UnspecifiedMatching OMIM:620339 SLC23A3 skos:exactMatch ncbigene:151295 semapv:UnspecifiedMatching -OMIM:620340 NIPAL1 skos:exactMatch hgnc:NIPAL1 semapv:UnspecifiedMatching +OMIM:620340 NIPAL1 skos:exactMatch hgnc.symbol:27194 semapv:UnspecifiedMatching +OMIM:620340 NIPAL1 skos:exactMatch hgnc.symbol:NIPAL1 semapv:UnspecifiedMatching OMIM:620340 NIPAL1 skos:exactMatch ncbigene:152519 semapv:UnspecifiedMatching -OMIM:620341 WDR75 skos:exactMatch hgnc:WDR75 semapv:UnspecifiedMatching +OMIM:620341 WDR75 skos:exactMatch hgnc.symbol:25725 semapv:UnspecifiedMatching +OMIM:620341 WDR75 skos:exactMatch hgnc.symbol:WDR75 semapv:UnspecifiedMatching OMIM:620341 WDR75 skos:exactMatch ncbigene:84128 semapv:UnspecifiedMatching -OMIM:620345 MFSD5 skos:exactMatch hgnc:MFSD5 semapv:UnspecifiedMatching +OMIM:620345 MFSD5 skos:exactMatch hgnc.symbol:28156 semapv:UnspecifiedMatching +OMIM:620345 MFSD5 skos:exactMatch hgnc.symbol:MFSD5 semapv:UnspecifiedMatching OMIM:620345 MFSD5 skos:exactMatch ncbigene:84975 semapv:UnspecifiedMatching -OMIM:620346 MFSD11 skos:exactMatch hgnc:MFSD11 semapv:UnspecifiedMatching +OMIM:620346 MFSD11 skos:exactMatch hgnc.symbol:25458 semapv:UnspecifiedMatching +OMIM:620346 MFSD11 skos:exactMatch hgnc.symbol:MFSD11 semapv:UnspecifiedMatching OMIM:620346 MFSD11 skos:exactMatch ncbigene:79157 semapv:UnspecifiedMatching -OMIM:620347 MFSD14A skos:exactMatch hgnc:MFSD14A semapv:UnspecifiedMatching +OMIM:620347 MFSD14A skos:exactMatch hgnc.symbol:23363 semapv:UnspecifiedMatching +OMIM:620347 MFSD14A skos:exactMatch hgnc.symbol:MFSD14A semapv:UnspecifiedMatching OMIM:620347 MFSD14A skos:exactMatch ncbigene:64645 semapv:UnspecifiedMatching -OMIM:620348 MFSD14B skos:exactMatch hgnc:MFSD14B semapv:UnspecifiedMatching +OMIM:620348 MFSD14B skos:exactMatch hgnc.symbol:23376 semapv:UnspecifiedMatching +OMIM:620348 MFSD14B skos:exactMatch hgnc.symbol:MFSD14B semapv:UnspecifiedMatching OMIM:620348 MFSD14B skos:exactMatch ncbigene:84641 semapv:UnspecifiedMatching -OMIM:620349 SLC35F1 skos:exactMatch hgnc:SLC35F1 semapv:UnspecifiedMatching +OMIM:620349 SLC35F1 skos:exactMatch hgnc.symbol:21483 semapv:UnspecifiedMatching +OMIM:620349 SLC35F1 skos:exactMatch hgnc.symbol:SLC35F1 semapv:UnspecifiedMatching OMIM:620349 SLC35F1 skos:exactMatch ncbigene:222553 semapv:UnspecifiedMatching -OMIM:620350 SLC35F2 skos:exactMatch hgnc:SLC35F2 semapv:UnspecifiedMatching +OMIM:620350 SLC35F2 skos:exactMatch hgnc.symbol:23615 semapv:UnspecifiedMatching +OMIM:620350 SLC35F2 skos:exactMatch hgnc.symbol:SLC35F2 semapv:UnspecifiedMatching OMIM:620350 SLC35F2 skos:exactMatch ncbigene:54733 semapv:UnspecifiedMatching -OMIM:620355 SLC35E3 skos:exactMatch hgnc:SLC35E3 semapv:UnspecifiedMatching +OMIM:620355 SLC35E3 skos:exactMatch hgnc.symbol:20864 semapv:UnspecifiedMatching +OMIM:620355 SLC35E3 skos:exactMatch hgnc.symbol:SLC35E3 semapv:UnspecifiedMatching OMIM:620355 SLC35E3 skos:exactMatch ncbigene:55508 semapv:UnspecifiedMatching -OMIM:620360 TPRX2 skos:exactMatch hgnc:TPRX2 semapv:UnspecifiedMatching +OMIM:620360 TPRX2 skos:exactMatch hgnc.symbol:32175 semapv:UnspecifiedMatching +OMIM:620360 TPRX2 skos:exactMatch hgnc.symbol:TPRX2 semapv:UnspecifiedMatching OMIM:620360 TPRX2 skos:exactMatch ncbigene:503627 semapv:UnspecifiedMatching -OMIM:620361 RNU5D-1 skos:exactMatch hgnc:RNU5D-1 semapv:UnspecifiedMatching +OMIM:620361 RNU5D-1 skos:exactMatch hgnc.symbol:10214 semapv:UnspecifiedMatching +OMIM:620361 RNU5D-1 skos:exactMatch hgnc.symbol:RNU5D-1 semapv:UnspecifiedMatching OMIM:620361 RNU5D-1 skos:exactMatch ncbigene:26830 semapv:UnspecifiedMatching -OMIM:620362 RNU5E-1 skos:exactMatch hgnc:RNU5E-1 semapv:UnspecifiedMatching +OMIM:620362 RNU5E-1 skos:exactMatch hgnc.symbol:10215 semapv:UnspecifiedMatching +OMIM:620362 RNU5E-1 skos:exactMatch hgnc.symbol:RNU5E-1 semapv:UnspecifiedMatching OMIM:620362 RNU5E-1 skos:exactMatch ncbigene:26829 semapv:UnspecifiedMatching -OMIM:620363 RNU5F-1 skos:exactMatch hgnc:RNU5F-1 semapv:UnspecifiedMatching +OMIM:620363 RNU5F-1 skos:exactMatch hgnc.symbol:10216 semapv:UnspecifiedMatching +OMIM:620363 RNU5F-1 skos:exactMatch hgnc.symbol:RNU5F-1 semapv:UnspecifiedMatching OMIM:620363 RNU5F-1 skos:exactMatch ncbigene:26828 semapv:UnspecifiedMatching -OMIM:620373 ADISSP skos:exactMatch hgnc:ADISSP semapv:UnspecifiedMatching +OMIM:620373 ADISSP skos:exactMatch hgnc.symbol:ADISSP semapv:UnspecifiedMatching OMIM:620373 ADISSP skos:exactMatch ncbigene:54976 semapv:UnspecifiedMatching -OMIM:620377 ARMC12 skos:exactMatch hgnc:ARMC12 semapv:UnspecifiedMatching +OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:21099 semapv:UnspecifiedMatching +OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:ARMC12 semapv:UnspecifiedMatching OMIM:620377 ARMC12 skos:exactMatch ncbigene:221481 semapv:UnspecifiedMatching -OMIM:620380 LETM2 skos:exactMatch hgnc:LETM2 semapv:UnspecifiedMatching +OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:14648 semapv:UnspecifiedMatching +OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:LETM2 semapv:UnspecifiedMatching OMIM:620380 LETM2 skos:exactMatch ncbigene:137994 semapv:UnspecifiedMatching -OMIM:620381 CFAP61 skos:exactMatch hgnc:CFAP61 semapv:UnspecifiedMatching +OMIM:620381 CFAP61 skos:exactMatch hgnc.symbol:15872 semapv:UnspecifiedMatching +OMIM:620381 CFAP61 skos:exactMatch hgnc.symbol:CFAP61 semapv:UnspecifiedMatching OMIM:620381 CFAP61 skos:exactMatch ncbigene:26074 semapv:UnspecifiedMatching -OMIM:620382 ZCCHC9 skos:exactMatch hgnc:ZCCHC9 semapv:UnspecifiedMatching +OMIM:620382 ZCCHC9 skos:exactMatch hgnc.symbol:25424 semapv:UnspecifiedMatching +OMIM:620382 ZCCHC9 skos:exactMatch hgnc.symbol:ZCCHC9 semapv:UnspecifiedMatching OMIM:620382 ZCCHC9 skos:exactMatch ncbigene:84240 semapv:UnspecifiedMatching -OMIM:620385 ARMC1 skos:exactMatch hgnc:ARMC1 semapv:UnspecifiedMatching +OMIM:620385 ARMC1 skos:exactMatch hgnc.symbol:17684 semapv:UnspecifiedMatching +OMIM:620385 ARMC1 skos:exactMatch hgnc.symbol:ARMC1 semapv:UnspecifiedMatching OMIM:620385 ARMC1 skos:exactMatch ncbigene:55156 semapv:UnspecifiedMatching -OMIM:620387 TBC1D21 skos:exactMatch hgnc:TBC1D21 semapv:UnspecifiedMatching +OMIM:620387 TBC1D21 skos:exactMatch hgnc.symbol:28536 semapv:UnspecifiedMatching +OMIM:620387 TBC1D21 skos:exactMatch hgnc.symbol:TBC1D21 semapv:UnspecifiedMatching OMIM:620387 TBC1D21 skos:exactMatch ncbigene:161514 semapv:UnspecifiedMatching -OMIM:620388 DBNDD1 skos:exactMatch hgnc:DBNDD1 semapv:UnspecifiedMatching +OMIM:620388 DBNDD1 skos:exactMatch hgnc.symbol:28455 semapv:UnspecifiedMatching +OMIM:620388 DBNDD1 skos:exactMatch hgnc.symbol:DBNDD1 semapv:UnspecifiedMatching OMIM:620388 DBNDD1 skos:exactMatch ncbigene:79007 semapv:UnspecifiedMatching -OMIM:620390 HEATR1 skos:exactMatch hgnc:HEATR1 semapv:UnspecifiedMatching +OMIM:620390 HEATR1 skos:exactMatch hgnc.symbol:25517 semapv:UnspecifiedMatching +OMIM:620390 HEATR1 skos:exactMatch hgnc.symbol:HEATR1 semapv:UnspecifiedMatching OMIM:620390 HEATR1 skos:exactMatch ncbigene:55127 semapv:UnspecifiedMatching -OMIM:620391 PARP16 skos:exactMatch hgnc:PARP16 semapv:UnspecifiedMatching +OMIM:620391 PARP16 skos:exactMatch hgnc.symbol:26040 semapv:UnspecifiedMatching +OMIM:620391 PARP16 skos:exactMatch hgnc.symbol:PARP16 semapv:UnspecifiedMatching OMIM:620391 PARP16 skos:exactMatch ncbigene:54956 semapv:UnspecifiedMatching -OMIM:620392 ABITRAM skos:exactMatch hgnc:ABITRAM semapv:UnspecifiedMatching +OMIM:620392 ABITRAM skos:exactMatch hgnc.symbol:1364 semapv:UnspecifiedMatching +OMIM:620392 ABITRAM skos:exactMatch hgnc.symbol:ABITRAM semapv:UnspecifiedMatching OMIM:620392 ABITRAM skos:exactMatch ncbigene:54942 semapv:UnspecifiedMatching -OMIM:620394 PSKH2 skos:exactMatch hgnc:PSKH2 semapv:UnspecifiedMatching +OMIM:620394 PSKH2 skos:exactMatch hgnc.symbol:18997 semapv:UnspecifiedMatching +OMIM:620394 PSKH2 skos:exactMatch hgnc.symbol:PSKH2 semapv:UnspecifiedMatching OMIM:620394 PSKH2 skos:exactMatch ncbigene:85481 semapv:UnspecifiedMatching -OMIM:620395 CCNJ skos:exactMatch hgnc:CCNJ semapv:UnspecifiedMatching +OMIM:620395 CCNJ skos:exactMatch hgnc.symbol:23434 semapv:UnspecifiedMatching +OMIM:620395 CCNJ skos:exactMatch hgnc.symbol:CCNJ semapv:UnspecifiedMatching OMIM:620395 CCNJ skos:exactMatch ncbigene:54619 semapv:UnspecifiedMatching -OMIM:620396 CCNP skos:exactMatch hgnc:CCNP semapv:UnspecifiedMatching +OMIM:620396 CCNP skos:exactMatch hgnc.symbol:25805 semapv:UnspecifiedMatching +OMIM:620396 CCNP skos:exactMatch hgnc.symbol:CCNP semapv:UnspecifiedMatching OMIM:620396 CCNP skos:exactMatch ncbigene:79935 semapv:UnspecifiedMatching -OMIM:620397 AUNIP skos:exactMatch hgnc:AUNIP semapv:UnspecifiedMatching +OMIM:620397 AUNIP skos:exactMatch hgnc.symbol:28363 semapv:UnspecifiedMatching +OMIM:620397 AUNIP skos:exactMatch hgnc.symbol:AUNIP semapv:UnspecifiedMatching OMIM:620397 AUNIP skos:exactMatch ncbigene:79000 semapv:UnspecifiedMatching -OMIM:620399 ADCK1 skos:exactMatch hgnc:ADCK1 semapv:UnspecifiedMatching +OMIM:620399 ADCK1 skos:exactMatch hgnc.symbol:19038 semapv:UnspecifiedMatching +OMIM:620399 ADCK1 skos:exactMatch hgnc.symbol:ADCK1 semapv:UnspecifiedMatching OMIM:620399 ADCK1 skos:exactMatch ncbigene:57143 semapv:UnspecifiedMatching -OMIM:620403 INKA2 skos:exactMatch hgnc:INKA2 semapv:UnspecifiedMatching +OMIM:620403 INKA2 skos:exactMatch hgnc.symbol:28045 semapv:UnspecifiedMatching +OMIM:620403 INKA2 skos:exactMatch hgnc.symbol:INKA2 semapv:UnspecifiedMatching OMIM:620403 INKA2 skos:exactMatch ncbigene:55924 semapv:UnspecifiedMatching -OMIM:620404 CSRNP2 skos:exactMatch hgnc:CSRNP2 semapv:UnspecifiedMatching +OMIM:620404 CSRNP2 skos:exactMatch hgnc.symbol:16006 semapv:UnspecifiedMatching +OMIM:620404 CSRNP2 skos:exactMatch hgnc.symbol:CSRNP2 semapv:UnspecifiedMatching OMIM:620404 CSRNP2 skos:exactMatch ncbigene:81566 semapv:UnspecifiedMatching -OMIM:620405 CSRNP3 skos:exactMatch hgnc:CSRNP3 semapv:UnspecifiedMatching +OMIM:620405 CSRNP3 skos:exactMatch hgnc.symbol:30729 semapv:UnspecifiedMatching +OMIM:620405 CSRNP3 skos:exactMatch hgnc.symbol:CSRNP3 semapv:UnspecifiedMatching OMIM:620405 CSRNP3 skos:exactMatch ncbigene:80034 semapv:UnspecifiedMatching -OMIM:620406 MCTS2 skos:exactMatch hgnc:MCTS2 semapv:UnspecifiedMatching +OMIM:620406 MCTS2 skos:exactMatch hgnc.symbol:49760 semapv:UnspecifiedMatching +OMIM:620406 MCTS2 skos:exactMatch hgnc.symbol:MCTS2 semapv:UnspecifiedMatching OMIM:620406 MCTS2 skos:exactMatch ncbigene:100101490 semapv:UnspecifiedMatching -OMIM:620407 MIMT1 skos:exactMatch hgnc:MIMT1 semapv:UnspecifiedMatching +OMIM:620407 MIMT1 skos:exactMatch hgnc.symbol:33464 semapv:UnspecifiedMatching +OMIM:620407 MIMT1 skos:exactMatch hgnc.symbol:MIMT1 semapv:UnspecifiedMatching OMIM:620407 MIMT1 skos:exactMatch ncbigene:100073347 semapv:UnspecifiedMatching -OMIM:620408 MIR337 skos:exactMatch hgnc:MIR337 semapv:UnspecifiedMatching +OMIM:620408 MIR337 skos:exactMatch hgnc.symbol:31774 semapv:UnspecifiedMatching +OMIM:620408 MIR337 skos:exactMatch hgnc.symbol:MIR337 semapv:UnspecifiedMatching OMIM:620408 MIR337 skos:exactMatch ncbigene:442905 semapv:UnspecifiedMatching -OMIM:620412 NAMA skos:exactMatch hgnc:NAMA semapv:UnspecifiedMatching +OMIM:620412 NAMA skos:exactMatch hgnc.symbol:42408 semapv:UnspecifiedMatching +OMIM:620412 NAMA skos:exactMatch hgnc.symbol:NAMA semapv:UnspecifiedMatching OMIM:620412 NAMA skos:exactMatch ncbigene:100996569 semapv:UnspecifiedMatching -OMIM:620413 GASK1A skos:exactMatch hgnc:GASK1A semapv:UnspecifiedMatching +OMIM:620413 GASK1A skos:exactMatch hgnc.symbol:24485 semapv:UnspecifiedMatching +OMIM:620413 GASK1A skos:exactMatch hgnc.symbol:GASK1A semapv:UnspecifiedMatching OMIM:620413 GASK1A skos:exactMatch ncbigene:729085 semapv:UnspecifiedMatching -OMIM:620414 SBK2 skos:exactMatch hgnc:SBK2 semapv:UnspecifiedMatching +OMIM:620414 SBK2 skos:exactMatch hgnc.symbol:34416 semapv:UnspecifiedMatching +OMIM:620414 SBK2 skos:exactMatch hgnc.symbol:SBK2 semapv:UnspecifiedMatching OMIM:620414 SBK2 skos:exactMatch ncbigene:646643 semapv:UnspecifiedMatching -OMIM:620418 NRIR skos:exactMatch hgnc:NRIR semapv:UnspecifiedMatching +OMIM:620418 NRIR skos:exactMatch hgnc.symbol:51269 semapv:UnspecifiedMatching +OMIM:620418 NRIR skos:exactMatch hgnc.symbol:NRIR semapv:UnspecifiedMatching OMIM:620418 NRIR skos:exactMatch ncbigene:104326052 semapv:UnspecifiedMatching -OMIM:620419 CCNI2 skos:exactMatch hgnc:CCNI2 semapv:UnspecifiedMatching +OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:33869 semapv:UnspecifiedMatching +OMIM:620419 CCNI2 skos:exactMatch hgnc.symbol:CCNI2 semapv:UnspecifiedMatching OMIM:620419 CCNI2 skos:exactMatch ncbigene:645121 semapv:UnspecifiedMatching -OMIM:620420 HIGD1B skos:exactMatch hgnc:HIGD1B semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:24318 semapv:UnspecifiedMatching +OMIM:620420 HIGD1B skos:exactMatch hgnc.symbol:HIGD1B semapv:UnspecifiedMatching OMIM:620420 HIGD1B skos:exactMatch ncbigene:51751 semapv:UnspecifiedMatching -OMIM:620421 DCAF4L2 skos:exactMatch hgnc:DCAF4L2 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:26657 semapv:UnspecifiedMatching +OMIM:620421 DCAF4L2 skos:exactMatch hgnc.symbol:DCAF4L2 semapv:UnspecifiedMatching OMIM:620421 DCAF4L2 skos:exactMatch ncbigene:138009 semapv:UnspecifiedMatching -OMIM:620424 ZAR1L skos:exactMatch hgnc:ZAR1L semapv:UnspecifiedMatching +OMIM:620424 ZAR1L skos:exactMatch hgnc.symbol:37116 semapv:UnspecifiedMatching +OMIM:620424 ZAR1L skos:exactMatch hgnc.symbol:ZAR1L semapv:UnspecifiedMatching OMIM:620424 ZAR1L skos:exactMatch ncbigene:646799 semapv:UnspecifiedMatching -OMIM:620426 INKA1 skos:exactMatch hgnc:INKA1 semapv:UnspecifiedMatching +OMIM:620426 INKA1 skos:exactMatch hgnc.symbol:32480 semapv:UnspecifiedMatching +OMIM:620426 INKA1 skos:exactMatch hgnc.symbol:INKA1 semapv:UnspecifiedMatching OMIM:620426 INKA1 skos:exactMatch ncbigene:389119 semapv:UnspecifiedMatching -OMIM:620429 TMEM64 skos:exactMatch hgnc:TMEM64 semapv:UnspecifiedMatching +OMIM:620429 TMEM64 skos:exactMatch hgnc.symbol:25441 semapv:UnspecifiedMatching +OMIM:620429 TMEM64 skos:exactMatch hgnc.symbol:TMEM64 semapv:UnspecifiedMatching OMIM:620429 TMEM64 skos:exactMatch ncbigene:169200 semapv:UnspecifiedMatching -OMIM:620431 FLYWCH1 skos:exactMatch hgnc:FLYWCH1 semapv:UnspecifiedMatching +OMIM:620431 FLYWCH1 skos:exactMatch hgnc.symbol:25404 semapv:UnspecifiedMatching +OMIM:620431 FLYWCH1 skos:exactMatch hgnc.symbol:FLYWCH1 semapv:UnspecifiedMatching OMIM:620431 FLYWCH1 skos:exactMatch ncbigene:84256 semapv:UnspecifiedMatching -OMIM:620432 OCSTAMP skos:exactMatch hgnc:OCSTAMP semapv:UnspecifiedMatching +OMIM:620432 OCSTAMP skos:exactMatch hgnc.symbol:16116 semapv:UnspecifiedMatching +OMIM:620432 OCSTAMP skos:exactMatch hgnc.symbol:OCSTAMP semapv:UnspecifiedMatching OMIM:620432 OCSTAMP skos:exactMatch ncbigene:128506 semapv:UnspecifiedMatching -OMIM:620433 TMEM186 skos:exactMatch hgnc:TMEM186 semapv:UnspecifiedMatching +OMIM:620433 TMEM186 skos:exactMatch hgnc.symbol:24530 semapv:UnspecifiedMatching +OMIM:620433 TMEM186 skos:exactMatch hgnc.symbol:TMEM186 semapv:UnspecifiedMatching OMIM:620433 TMEM186 skos:exactMatch ncbigene:25880 semapv:UnspecifiedMatching -OMIM:620434 TMEM223 skos:exactMatch hgnc:TMEM223 semapv:UnspecifiedMatching +OMIM:620434 TMEM223 skos:exactMatch hgnc.symbol:28464 semapv:UnspecifiedMatching +OMIM:620434 TMEM223 skos:exactMatch hgnc.symbol:TMEM223 semapv:UnspecifiedMatching OMIM:620434 TMEM223 skos:exactMatch ncbigene:79064 semapv:UnspecifiedMatching -OMIM:620435 UQCC5 skos:exactMatch hgnc:UQCC5 semapv:UnspecifiedMatching +OMIM:620435 UQCC5 skos:exactMatch hgnc.symbol:UQCC5 semapv:UnspecifiedMatching OMIM:620435 UQCC5 skos:exactMatch ncbigene:440957 semapv:UnspecifiedMatching -OMIM:620436 TMED9 skos:exactMatch hgnc:TMED9 semapv:UnspecifiedMatching +OMIM:620436 TMED9 skos:exactMatch hgnc.symbol:24878 semapv:UnspecifiedMatching +OMIM:620436 TMED9 skos:exactMatch hgnc.symbol:TMED9 semapv:UnspecifiedMatching OMIM:620436 TMED9 skos:exactMatch ncbigene:54732 semapv:UnspecifiedMatching -OMIM:620437 TMED3 skos:exactMatch hgnc:TMED3 semapv:UnspecifiedMatching +OMIM:620437 TMED3 skos:exactMatch hgnc.symbol:28889 semapv:UnspecifiedMatching +OMIM:620437 TMED3 skos:exactMatch hgnc.symbol:TMED3 semapv:UnspecifiedMatching OMIM:620437 TMED3 skos:exactMatch ncbigene:23423 semapv:UnspecifiedMatching -OMIM:620440 GAPT skos:exactMatch hgnc:GAPT semapv:UnspecifiedMatching +OMIM:620440 GAPT skos:exactMatch hgnc.symbol:26588 semapv:UnspecifiedMatching +OMIM:620440 GAPT skos:exactMatch hgnc.symbol:GAPT semapv:UnspecifiedMatching OMIM:620440 GAPT skos:exactMatch ncbigene:202309 semapv:UnspecifiedMatching -OMIM:620441 ZNF470 skos:exactMatch hgnc:ZNF470 semapv:UnspecifiedMatching +OMIM:620441 ZNF470 skos:exactMatch hgnc.symbol:22220 semapv:UnspecifiedMatching +OMIM:620441 ZNF470 skos:exactMatch hgnc.symbol:ZNF470 semapv:UnspecifiedMatching OMIM:620441 ZNF470 skos:exactMatch ncbigene:388566 semapv:UnspecifiedMatching -OMIM:620446 TSPAN17 skos:exactMatch hgnc:TSPAN17 semapv:UnspecifiedMatching +OMIM:620446 TSPAN17 skos:exactMatch hgnc.symbol:13594 semapv:UnspecifiedMatching +OMIM:620446 TSPAN17 skos:exactMatch hgnc.symbol:TSPAN17 semapv:UnspecifiedMatching OMIM:620446 TSPAN17 skos:exactMatch ncbigene:26262 semapv:UnspecifiedMatching -OMIM:620463 EDRF1 skos:exactMatch hgnc:EDRF1 semapv:UnspecifiedMatching +OMIM:620463 EDRF1 skos:exactMatch hgnc.symbol:24640 semapv:UnspecifiedMatching +OMIM:620463 EDRF1 skos:exactMatch hgnc.symbol:EDRF1 semapv:UnspecifiedMatching OMIM:620463 EDRF1 skos:exactMatch ncbigene:26098 semapv:UnspecifiedMatching -OMIM:620464 RCOR3 skos:exactMatch hgnc:RCOR3 semapv:UnspecifiedMatching +OMIM:620464 RCOR3 skos:exactMatch hgnc.symbol:25594 semapv:UnspecifiedMatching +OMIM:620464 RCOR3 skos:exactMatch hgnc.symbol:RCOR3 semapv:UnspecifiedMatching OMIM:620464 RCOR3 skos:exactMatch ncbigene:55758 semapv:UnspecifiedMatching -OMIM:620466 ZNF28 skos:exactMatch hgnc:ZNF28 semapv:UnspecifiedMatching +OMIM:620466 ZNF28 skos:exactMatch hgnc.symbol:13073 semapv:UnspecifiedMatching +OMIM:620466 ZNF28 skos:exactMatch hgnc.symbol:ZNF28 semapv:UnspecifiedMatching OMIM:620466 ZNF28 skos:exactMatch ncbigene:7576 semapv:UnspecifiedMatching -OMIM:620467 LARP1B skos:exactMatch hgnc:LARP1B semapv:UnspecifiedMatching +OMIM:620467 LARP1B skos:exactMatch hgnc.symbol:24704 semapv:UnspecifiedMatching +OMIM:620467 LARP1B skos:exactMatch hgnc.symbol:LARP1B semapv:UnspecifiedMatching OMIM:620467 LARP1B skos:exactMatch ncbigene:55132 semapv:UnspecifiedMatching -OMIM:620468 VRTN skos:exactMatch hgnc:VRTN semapv:UnspecifiedMatching +OMIM:620468 VRTN skos:exactMatch hgnc.symbol:20223 semapv:UnspecifiedMatching +OMIM:620468 VRTN skos:exactMatch hgnc.symbol:VRTN semapv:UnspecifiedMatching OMIM:620468 VRTN skos:exactMatch ncbigene:55237 semapv:UnspecifiedMatching -OMIM:620471 FOXO3B skos:exactMatch hgnc:FOXO3B semapv:UnspecifiedMatching +OMIM:620471 FOXO3B skos:exactMatch hgnc.symbol:3822 semapv:UnspecifiedMatching +OMIM:620471 FOXO3B skos:exactMatch hgnc.symbol:FOXO3B semapv:UnspecifiedMatching OMIM:620471 FOXO3B skos:exactMatch ncbigene:2310 semapv:UnspecifiedMatching -OMIM:620472 TRAPPC2B skos:exactMatch hgnc:TRAPPC2B semapv:UnspecifiedMatching +OMIM:620472 TRAPPC2B skos:exactMatch hgnc.symbol:10710 semapv:UnspecifiedMatching +OMIM:620472 TRAPPC2B skos:exactMatch hgnc.symbol:TRAPPC2B semapv:UnspecifiedMatching OMIM:620472 TRAPPC2B skos:exactMatch ncbigene:10597 semapv:UnspecifiedMatching -OMIM:620473 ZNHIT6 skos:exactMatch hgnc:ZNHIT6 semapv:UnspecifiedMatching +OMIM:620473 ZNHIT6 skos:exactMatch hgnc.symbol:26089 semapv:UnspecifiedMatching +OMIM:620473 ZNHIT6 skos:exactMatch hgnc.symbol:ZNHIT6 semapv:UnspecifiedMatching OMIM:620473 ZNHIT6 skos:exactMatch ncbigene:54680 semapv:UnspecifiedMatching -OMIM:620474 AAMDC skos:exactMatch hgnc:AAMDC semapv:UnspecifiedMatching +OMIM:620474 AAMDC skos:exactMatch hgnc.symbol:30205 semapv:UnspecifiedMatching +OMIM:620474 AAMDC skos:exactMatch hgnc.symbol:AAMDC semapv:UnspecifiedMatching OMIM:620474 AAMDC skos:exactMatch ncbigene:28971 semapv:UnspecifiedMatching -OMIM:620476 MRTO4 skos:exactMatch hgnc:MRTO4 semapv:UnspecifiedMatching +OMIM:620476 MRTO4 skos:exactMatch hgnc.symbol:18477 semapv:UnspecifiedMatching +OMIM:620476 MRTO4 skos:exactMatch hgnc.symbol:MRTO4 semapv:UnspecifiedMatching OMIM:620476 MRTO4 skos:exactMatch ncbigene:51154 semapv:UnspecifiedMatching -OMIM:620477 ZG16B skos:exactMatch hgnc:ZG16B semapv:UnspecifiedMatching +OMIM:620477 ZG16B skos:exactMatch hgnc.symbol:30456 semapv:UnspecifiedMatching +OMIM:620477 ZG16B skos:exactMatch hgnc.symbol:ZG16B semapv:UnspecifiedMatching OMIM:620477 ZG16B skos:exactMatch ncbigene:124220 semapv:UnspecifiedMatching -OMIM:620479 CSTPP1 skos:exactMatch hgnc:CSTPP1 semapv:UnspecifiedMatching +OMIM:620479 CSTPP1 skos:exactMatch hgnc.symbol:28720 semapv:UnspecifiedMatching +OMIM:620479 CSTPP1 skos:exactMatch hgnc.symbol:CSTPP1 semapv:UnspecifiedMatching OMIM:620479 CSTPP1 skos:exactMatch ncbigene:79096 semapv:UnspecifiedMatching -OMIM:620480 TRIML2 skos:exactMatch hgnc:TRIML2 semapv:UnspecifiedMatching +OMIM:620480 TRIML2 skos:exactMatch hgnc.symbol:26378 semapv:UnspecifiedMatching +OMIM:620480 TRIML2 skos:exactMatch hgnc.symbol:TRIML2 semapv:UnspecifiedMatching OMIM:620480 TRIML2 skos:exactMatch ncbigene:205860 semapv:UnspecifiedMatching -OMIM:620485 TTLL13 skos:exactMatch hgnc:TTLL13 semapv:UnspecifiedMatching +OMIM:620485 TTLL13 skos:exactMatch hgnc.symbol:32484 semapv:UnspecifiedMatching +OMIM:620485 TTLL13 skos:exactMatch hgnc.symbol:TTLL13 semapv:UnspecifiedMatching OMIM:620485 TTLL13 skos:exactMatch ncbigene:440307 semapv:UnspecifiedMatching -OMIM:620487 CPLANE2 skos:exactMatch hgnc:CPLANE2 semapv:UnspecifiedMatching +OMIM:620487 CPLANE2 skos:exactMatch hgnc.symbol:28127 semapv:UnspecifiedMatching +OMIM:620487 CPLANE2 skos:exactMatch hgnc.symbol:CPLANE2 semapv:UnspecifiedMatching OMIM:620487 CPLANE2 skos:exactMatch ncbigene:79363 semapv:UnspecifiedMatching -OMIM:620488 NFXL1 skos:exactMatch hgnc:NFXL1 semapv:UnspecifiedMatching +OMIM:620488 NFXL1 skos:exactMatch hgnc.symbol:18726 semapv:UnspecifiedMatching +OMIM:620488 NFXL1 skos:exactMatch hgnc.symbol:NFXL1 semapv:UnspecifiedMatching OMIM:620488 NFXL1 skos:exactMatch ncbigene:152518 semapv:UnspecifiedMatching -OMIM:620491 MTURN skos:exactMatch hgnc:MTURN semapv:UnspecifiedMatching +OMIM:620491 MTURN skos:exactMatch hgnc.symbol:25457 semapv:UnspecifiedMatching +OMIM:620491 MTURN skos:exactMatch hgnc.symbol:MTURN semapv:UnspecifiedMatching OMIM:620491 MTURN skos:exactMatch ncbigene:222166 semapv:UnspecifiedMatching -OMIM:620492 MED31 skos:exactMatch hgnc:MED31 semapv:UnspecifiedMatching +OMIM:620492 MED31 skos:exactMatch hgnc.symbol:24260 semapv:UnspecifiedMatching +OMIM:620492 MED31 skos:exactMatch hgnc.symbol:MED31 semapv:UnspecifiedMatching OMIM:620492 MED31 skos:exactMatch ncbigene:51003 semapv:UnspecifiedMatching -OMIM:620493 SAMD7 skos:exactMatch hgnc:SAMD7 semapv:UnspecifiedMatching +OMIM:620493 SAMD7 skos:exactMatch hgnc.symbol:25394 semapv:UnspecifiedMatching +OMIM:620493 SAMD7 skos:exactMatch hgnc.symbol:SAMD7 semapv:UnspecifiedMatching OMIM:620493 SAMD7 skos:exactMatch ncbigene:344658 semapv:UnspecifiedMatching -OMIM:620495 C12ORF40 skos:exactMatch hgnc:REDIC1 semapv:UnspecifiedMatching +OMIM:620495 C12ORF40 skos:exactMatch hgnc.symbol:REDIC1 semapv:UnspecifiedMatching OMIM:620495 C12ORF40 skos:exactMatch ncbigene:283461 semapv:UnspecifiedMatching -OMIM:620496 BBOF1 skos:exactMatch hgnc:BBOF1 semapv:UnspecifiedMatching +OMIM:620496 BBOF1 skos:exactMatch hgnc.symbol:19855 semapv:UnspecifiedMatching +OMIM:620496 BBOF1 skos:exactMatch hgnc.symbol:BBOF1 semapv:UnspecifiedMatching OMIM:620496 BBOF1 skos:exactMatch ncbigene:80127 semapv:UnspecifiedMatching -OMIM:620497 LRRC49 skos:exactMatch hgnc:LRRC49 semapv:UnspecifiedMatching +OMIM:620497 LRRC49 skos:exactMatch hgnc.symbol:25965 semapv:UnspecifiedMatching +OMIM:620497 LRRC49 skos:exactMatch hgnc.symbol:LRRC49 semapv:UnspecifiedMatching OMIM:620497 LRRC49 skos:exactMatch ncbigene:54839 semapv:UnspecifiedMatching -OMIM:620498 TCERG1L skos:exactMatch hgnc:TCERG1L semapv:UnspecifiedMatching +OMIM:620498 TCERG1L skos:exactMatch hgnc.symbol:23533 semapv:UnspecifiedMatching +OMIM:620498 TCERG1L skos:exactMatch hgnc.symbol:TCERG1L semapv:UnspecifiedMatching OMIM:620498 TCERG1L skos:exactMatch ncbigene:256536 semapv:UnspecifiedMatching -OMIM:620503 FIGNL2 skos:exactMatch hgnc:FIGNL2 semapv:UnspecifiedMatching +OMIM:620503 FIGNL2 skos:exactMatch hgnc.symbol:13287 semapv:UnspecifiedMatching +OMIM:620503 FIGNL2 skos:exactMatch hgnc.symbol:FIGNL2 semapv:UnspecifiedMatching OMIM:620503 FIGNL2 skos:exactMatch ncbigene:401720 semapv:UnspecifiedMatching -OMIM:620505 IFT22 skos:exactMatch hgnc:IFT22 semapv:UnspecifiedMatching +OMIM:620505 IFT22 skos:exactMatch hgnc.symbol:21895 semapv:UnspecifiedMatching +OMIM:620505 IFT22 skos:exactMatch hgnc.symbol:IFT22 semapv:UnspecifiedMatching OMIM:620505 IFT22 skos:exactMatch ncbigene:64792 semapv:UnspecifiedMatching -OMIM:620506 IFT46 skos:exactMatch hgnc:IFT46 semapv:UnspecifiedMatching +OMIM:620506 IFT46 skos:exactMatch hgnc.symbol:26146 semapv:UnspecifiedMatching +OMIM:620506 IFT46 skos:exactMatch hgnc.symbol:IFT46 semapv:UnspecifiedMatching OMIM:620506 IFT46 skos:exactMatch ncbigene:56912 semapv:UnspecifiedMatching -OMIM:620508 CNOT10 skos:exactMatch hgnc:CNOT10 semapv:UnspecifiedMatching +OMIM:620508 CNOT10 skos:exactMatch hgnc.symbol:23817 semapv:UnspecifiedMatching +OMIM:620508 CNOT10 skos:exactMatch hgnc.symbol:CNOT10 semapv:UnspecifiedMatching OMIM:620508 CNOT10 skos:exactMatch ncbigene:25904 semapv:UnspecifiedMatching -OMIM:620509 CNOT11 skos:exactMatch hgnc:CNOT11 semapv:UnspecifiedMatching +OMIM:620509 CNOT11 skos:exactMatch hgnc.symbol:25217 semapv:UnspecifiedMatching +OMIM:620509 CNOT11 skos:exactMatch hgnc.symbol:CNOT11 semapv:UnspecifiedMatching OMIM:620509 CNOT11 skos:exactMatch ncbigene:55571 semapv:UnspecifiedMatching -OMIM:620513 UNC119B skos:exactMatch hgnc:UNC119B semapv:UnspecifiedMatching +OMIM:620513 UNC119B skos:exactMatch hgnc.symbol:16488 semapv:UnspecifiedMatching +OMIM:620513 UNC119B skos:exactMatch hgnc.symbol:UNC119B semapv:UnspecifiedMatching OMIM:620513 UNC119B skos:exactMatch ncbigene:84747 semapv:UnspecifiedMatching -OMIM:620516 SAMD3 skos:exactMatch hgnc:SAMD3 semapv:UnspecifiedMatching +OMIM:620516 SAMD3 skos:exactMatch hgnc.symbol:21574 semapv:UnspecifiedMatching +OMIM:620516 SAMD3 skos:exactMatch hgnc.symbol:SAMD3 semapv:UnspecifiedMatching OMIM:620516 SAMD3 skos:exactMatch ncbigene:154075 semapv:UnspecifiedMatching -OMIM:620517 SAMD5 skos:exactMatch hgnc:SAMD5 semapv:UnspecifiedMatching +OMIM:620517 SAMD5 skos:exactMatch hgnc.symbol:21180 semapv:UnspecifiedMatching +OMIM:620517 SAMD5 skos:exactMatch hgnc.symbol:SAMD5 semapv:UnspecifiedMatching OMIM:620517 SAMD5 skos:exactMatch ncbigene:389432 semapv:UnspecifiedMatching -OMIM:620518 KLHDC4 skos:exactMatch hgnc:KLHDC4 semapv:UnspecifiedMatching +OMIM:620518 KLHDC4 skos:exactMatch hgnc.symbol:25272 semapv:UnspecifiedMatching +OMIM:620518 KLHDC4 skos:exactMatch hgnc.symbol:KLHDC4 semapv:UnspecifiedMatching OMIM:620518 KLHDC4 skos:exactMatch ncbigene:54758 semapv:UnspecifiedMatching -OMIM:620520 CALML4 skos:exactMatch hgnc:CALML4 semapv:UnspecifiedMatching +OMIM:620520 CALML4 skos:exactMatch hgnc.symbol:18445 semapv:UnspecifiedMatching +OMIM:620520 CALML4 skos:exactMatch hgnc.symbol:CALML4 semapv:UnspecifiedMatching OMIM:620520 CALML4 skos:exactMatch ncbigene:91860 semapv:UnspecifiedMatching -OMIM:620521 KLHDC7B skos:exactMatch hgnc:KLHDC7B semapv:UnspecifiedMatching +OMIM:620521 KLHDC7B skos:exactMatch hgnc.symbol:25145 semapv:UnspecifiedMatching +OMIM:620521 KLHDC7B skos:exactMatch hgnc.symbol:KLHDC7B semapv:UnspecifiedMatching OMIM:620521 KLHDC7B skos:exactMatch ncbigene:113730 semapv:UnspecifiedMatching -OMIM:620522 OCM2 skos:exactMatch hgnc:OCM2 semapv:UnspecifiedMatching +OMIM:620522 OCM2 skos:exactMatch hgnc.symbol:34396 semapv:UnspecifiedMatching +OMIM:620522 OCM2 skos:exactMatch hgnc.symbol:OCM2 semapv:UnspecifiedMatching OMIM:620522 OCM2 skos:exactMatch ncbigene:4951 semapv:UnspecifiedMatching -OMIM:620523 RNF122 skos:exactMatch hgnc:RNF122 semapv:UnspecifiedMatching +OMIM:620523 RNF122 skos:exactMatch hgnc.symbol:21147 semapv:UnspecifiedMatching +OMIM:620523 RNF122 skos:exactMatch hgnc.symbol:RNF122 semapv:UnspecifiedMatching OMIM:620523 RNF122 skos:exactMatch ncbigene:79845 semapv:UnspecifiedMatching -OMIM:620524 DCAF16 skos:exactMatch hgnc:DCAF16 semapv:UnspecifiedMatching +OMIM:620524 DCAF16 skos:exactMatch hgnc.symbol:25987 semapv:UnspecifiedMatching +OMIM:620524 DCAF16 skos:exactMatch hgnc.symbol:DCAF16 semapv:UnspecifiedMatching OMIM:620524 DCAF16 skos:exactMatch ncbigene:54876 semapv:UnspecifiedMatching -OMIM:620525 LINC02228 skos:exactMatch hgnc:LINC02228 semapv:UnspecifiedMatching +OMIM:620525 LINC02228 skos:exactMatch hgnc.symbol:53097 semapv:UnspecifiedMatching +OMIM:620525 LINC02228 skos:exactMatch hgnc.symbol:LINC02228 semapv:UnspecifiedMatching OMIM:620525 LINC02228 skos:exactMatch ncbigene:105374694 semapv:UnspecifiedMatching -OMIM:620526 SGTB skos:exactMatch hgnc:SGTB semapv:UnspecifiedMatching +OMIM:620526 SGTB skos:exactMatch hgnc.symbol:23567 semapv:UnspecifiedMatching +OMIM:620526 SGTB skos:exactMatch hgnc.symbol:SGTB semapv:UnspecifiedMatching OMIM:620526 SGTB skos:exactMatch ncbigene:54557 semapv:UnspecifiedMatching -OMIM:620527 TRIM58 skos:exactMatch hgnc:TRIM58 semapv:UnspecifiedMatching +OMIM:620527 TRIM58 skos:exactMatch hgnc.symbol:24150 semapv:UnspecifiedMatching +OMIM:620527 TRIM58 skos:exactMatch hgnc.symbol:TRIM58 semapv:UnspecifiedMatching OMIM:620527 TRIM58 skos:exactMatch ncbigene:25893 semapv:UnspecifiedMatching -OMIM:620529 RNF121 skos:exactMatch hgnc:RNF121 semapv:UnspecifiedMatching +OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:21070 semapv:UnspecifiedMatching +OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:RNF121 semapv:UnspecifiedMatching OMIM:620529 RNF121 skos:exactMatch ncbigene:55298 semapv:UnspecifiedMatching -OMIM:620530 C4ORF3 skos:exactMatch hgnc:C4orf3 semapv:UnspecifiedMatching +OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:19225 semapv:UnspecifiedMatching +OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:C4orf3 semapv:UnspecifiedMatching OMIM:620530 C4ORF3 skos:exactMatch ncbigene:401152 semapv:UnspecifiedMatching -OMIM:620531 SMIM6 skos:exactMatch hgnc:SMIM6 semapv:UnspecifiedMatching +OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:40032 semapv:UnspecifiedMatching +OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:SMIM6 semapv:UnspecifiedMatching OMIM:620531 SMIM6 skos:exactMatch ncbigene:100130933 semapv:UnspecifiedMatching -OMIM:620533 LINC00520 skos:exactMatch hgnc:LINC00520 semapv:UnspecifiedMatching +OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:19843 semapv:UnspecifiedMatching +OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:LINC00520 semapv:UnspecifiedMatching OMIM:620533 LINC00520 skos:exactMatch ncbigene:645687 semapv:UnspecifiedMatching -OMIM:620539 ZSWIM4 skos:exactMatch hgnc:ZSWIM4 semapv:UnspecifiedMatching +OMIM:620539 ZSWIM4 skos:exactMatch hgnc.symbol:25704 semapv:UnspecifiedMatching +OMIM:620539 ZSWIM4 skos:exactMatch hgnc.symbol:ZSWIM4 semapv:UnspecifiedMatching OMIM:620539 ZSWIM4 skos:exactMatch ncbigene:65249 semapv:UnspecifiedMatching -OMIM:620541 PANO1 skos:exactMatch hgnc:PANO1 semapv:UnspecifiedMatching +OMIM:620541 PANO1 skos:exactMatch hgnc.symbol:51237 semapv:UnspecifiedMatching +OMIM:620541 PANO1 skos:exactMatch hgnc.symbol:PANO1 semapv:UnspecifiedMatching OMIM:620541 PANO1 skos:exactMatch ncbigene:101927423 semapv:UnspecifiedMatching -OMIM:620543 ZUP1 skos:exactMatch hgnc:ZUP1 semapv:UnspecifiedMatching +OMIM:620543 ZUP1 skos:exactMatch hgnc.symbol:21224 semapv:UnspecifiedMatching +OMIM:620543 ZUP1 skos:exactMatch hgnc.symbol:ZUP1 semapv:UnspecifiedMatching OMIM:620543 ZUP1 skos:exactMatch ncbigene:221302 semapv:UnspecifiedMatching -OMIM:620544 PPP1R13BDT skos:exactMatch hgnc:PPP1R13B-DT semapv:UnspecifiedMatching +OMIM:620544 PPP1R13BDT skos:exactMatch hgnc.symbol:27069 semapv:UnspecifiedMatching +OMIM:620544 PPP1R13BDT skos:exactMatch hgnc.symbol:PPP1R13B-DT semapv:UnspecifiedMatching OMIM:620544 PPP1R13BDT skos:exactMatch ncbigene:145216 semapv:UnspecifiedMatching -OMIM:620549 FBXO48 skos:exactMatch hgnc:FBXO48 semapv:UnspecifiedMatching +OMIM:620549 FBXO48 skos:exactMatch hgnc.symbol:33857 semapv:UnspecifiedMatching +OMIM:620549 FBXO48 skos:exactMatch hgnc.symbol:FBXO48 semapv:UnspecifiedMatching OMIM:620549 FBXO48 skos:exactMatch ncbigene:554251 semapv:UnspecifiedMatching -OMIM:620552 CUEDC1 skos:exactMatch hgnc:CUEDC1 semapv:UnspecifiedMatching +OMIM:620552 CUEDC1 skos:exactMatch hgnc.symbol:31350 semapv:UnspecifiedMatching +OMIM:620552 CUEDC1 skos:exactMatch hgnc.symbol:CUEDC1 semapv:UnspecifiedMatching OMIM:620552 CUEDC1 skos:exactMatch ncbigene:404093 semapv:UnspecifiedMatching -OMIM:620553 CCDC93 skos:exactMatch hgnc:CCDC93 semapv:UnspecifiedMatching +OMIM:620553 CCDC93 skos:exactMatch hgnc.symbol:25611 semapv:UnspecifiedMatching +OMIM:620553 CCDC93 skos:exactMatch hgnc.symbol:CCDC93 semapv:UnspecifiedMatching OMIM:620553 CCDC93 skos:exactMatch ncbigene:54520 semapv:UnspecifiedMatching -OMIM:620554 ZNF432 skos:exactMatch hgnc:ZNF432 semapv:UnspecifiedMatching +OMIM:620554 ZNF432 skos:exactMatch hgnc.symbol:20810 semapv:UnspecifiedMatching +OMIM:620554 ZNF432 skos:exactMatch hgnc.symbol:ZNF432 semapv:UnspecifiedMatching OMIM:620554 ZNF432 skos:exactMatch ncbigene:9668 semapv:UnspecifiedMatching -OMIM:620555 SNHG20 skos:exactMatch hgnc:SNHG20 semapv:UnspecifiedMatching +OMIM:620555 SNHG20 skos:exactMatch hgnc.symbol:33099 semapv:UnspecifiedMatching +OMIM:620555 SNHG20 skos:exactMatch hgnc.symbol:SNHG20 semapv:UnspecifiedMatching OMIM:620555 SNHG20 skos:exactMatch ncbigene:654434 semapv:UnspecifiedMatching -OMIM:620556 RNF133 skos:exactMatch hgnc:RNF133 semapv:UnspecifiedMatching +OMIM:620556 RNF133 skos:exactMatch hgnc.symbol:21154 semapv:UnspecifiedMatching +OMIM:620556 RNF133 skos:exactMatch hgnc.symbol:RNF133 semapv:UnspecifiedMatching OMIM:620556 RNF133 skos:exactMatch ncbigene:168433 semapv:UnspecifiedMatching -OMIM:620557 IQUB skos:exactMatch hgnc:IQUB semapv:UnspecifiedMatching +OMIM:620557 IQUB skos:exactMatch hgnc.symbol:21995 semapv:UnspecifiedMatching +OMIM:620557 IQUB skos:exactMatch hgnc.symbol:IQUB semapv:UnspecifiedMatching OMIM:620557 IQUB skos:exactMatch ncbigene:154865 semapv:UnspecifiedMatching -OMIM:620559 CCNYL1 skos:exactMatch hgnc:CCNYL1 semapv:UnspecifiedMatching +OMIM:620559 CCNYL1 skos:exactMatch hgnc.symbol:26868 semapv:UnspecifiedMatching +OMIM:620559 CCNYL1 skos:exactMatch hgnc.symbol:CCNYL1 semapv:UnspecifiedMatching OMIM:620559 CCNYL1 skos:exactMatch ncbigene:151195 semapv:UnspecifiedMatching -OMIM:620560 CEBPA-DT skos:exactMatch hgnc:CEBPA-DT semapv:UnspecifiedMatching +OMIM:620560 CEBPA-DT skos:exactMatch hgnc.symbol:25710 semapv:UnspecifiedMatching +OMIM:620560 CEBPA-DT skos:exactMatch hgnc.symbol:CEBPA-DT semapv:UnspecifiedMatching OMIM:620560 CEBPA-DT skos:exactMatch ncbigene:80054 semapv:UnspecifiedMatching -OMIM:620561 DENND6A skos:exactMatch hgnc:DENND6A semapv:UnspecifiedMatching +OMIM:620561 DENND6A skos:exactMatch hgnc.symbol:26635 semapv:UnspecifiedMatching +OMIM:620561 DENND6A skos:exactMatch hgnc.symbol:DENND6A semapv:UnspecifiedMatching OMIM:620561 DENND6A skos:exactMatch ncbigene:201627 semapv:UnspecifiedMatching -OMIM:620562 DENND6B skos:exactMatch hgnc:DENND6B semapv:UnspecifiedMatching +OMIM:620562 DENND6B skos:exactMatch hgnc.symbol:32690 semapv:UnspecifiedMatching +OMIM:620562 DENND6B skos:exactMatch hgnc.symbol:DENND6B semapv:UnspecifiedMatching OMIM:620562 DENND6B skos:exactMatch ncbigene:414918 semapv:UnspecifiedMatching -OMIM:620563 USP50 skos:exactMatch hgnc:USP50 semapv:UnspecifiedMatching +OMIM:620563 USP50 skos:exactMatch hgnc.symbol:20079 semapv:UnspecifiedMatching +OMIM:620563 USP50 skos:exactMatch hgnc.symbol:USP50 semapv:UnspecifiedMatching OMIM:620563 USP50 skos:exactMatch ncbigene:373509 semapv:UnspecifiedMatching -OMIM:620564 AMN1 skos:exactMatch hgnc:AMN1 semapv:UnspecifiedMatching +OMIM:620564 AMN1 skos:exactMatch hgnc.symbol:27281 semapv:UnspecifiedMatching +OMIM:620564 AMN1 skos:exactMatch hgnc.symbol:AMN1 semapv:UnspecifiedMatching OMIM:620564 AMN1 skos:exactMatch ncbigene:196394 semapv:UnspecifiedMatching -OMIM:620566 CLDN22 skos:exactMatch hgnc:CLDN22 semapv:UnspecifiedMatching +OMIM:620566 CLDN22 skos:exactMatch hgnc.symbol:2044 semapv:UnspecifiedMatching +OMIM:620566 CLDN22 skos:exactMatch hgnc.symbol:CLDN22 semapv:UnspecifiedMatching OMIM:620566 CLDN22 skos:exactMatch ncbigene:53842 semapv:UnspecifiedMatching -OMIM:620567 ZNF507 skos:exactMatch hgnc:ZNF507 semapv:UnspecifiedMatching +OMIM:620567 ZNF507 skos:exactMatch hgnc.symbol:23783 semapv:UnspecifiedMatching +OMIM:620567 ZNF507 skos:exactMatch hgnc.symbol:ZNF507 semapv:UnspecifiedMatching OMIM:620567 ZNF507 skos:exactMatch ncbigene:22847 semapv:UnspecifiedMatching +OMIM:620571 MIR512-1 skos:exactMatch hgnc.symbol:32090 semapv:UnspecifiedMatching +OMIM:620571 MIR512-1 skos:exactMatch hgnc.symbol:MIR512-1 semapv:UnspecifiedMatching +OMIM:620571 MIR512-1 skos:exactMatch ncbigene:574458 semapv:UnspecifiedMatching +OMIM:620572 MIR512-2 skos:exactMatch hgnc.symbol:32091 semapv:UnspecifiedMatching +OMIM:620572 MIR512-2 skos:exactMatch hgnc.symbol:MIR512-2 semapv:UnspecifiedMatching +OMIM:620572 MIR512-2 skos:exactMatch ncbigene:574459 semapv:UnspecifiedMatching +OMIM:620573 MIR520E skos:exactMatch hgnc.symbol:32093 semapv:UnspecifiedMatching +OMIM:620573 MIR520E skos:exactMatch hgnc.symbol:MIR520E semapv:UnspecifiedMatching +OMIM:620573 MIR520E skos:exactMatch ncbigene:574461 semapv:UnspecifiedMatching +OMIM:620574 MIR515-1 skos:exactMatch hgnc.symbol:32094 semapv:UnspecifiedMatching +OMIM:620574 MIR515-1 skos:exactMatch hgnc.symbol:MIR515-1 semapv:UnspecifiedMatching +OMIM:620574 MIR515-1 skos:exactMatch ncbigene:574462 semapv:UnspecifiedMatching +OMIM:620575 MIR519E skos:exactMatch hgnc.symbol:32095 semapv:UnspecifiedMatching +OMIM:620575 MIR519E skos:exactMatch hgnc.symbol:MIR519E semapv:UnspecifiedMatching +OMIM:620575 MIR519E skos:exactMatch ncbigene:574463 semapv:UnspecifiedMatching +OMIM:620577 FADS6 skos:exactMatch hgnc.symbol:30459 semapv:UnspecifiedMatching +OMIM:620577 FADS6 skos:exactMatch hgnc.symbol:FADS6 semapv:UnspecifiedMatching +OMIM:620577 FADS6 skos:exactMatch ncbigene:283985 semapv:UnspecifiedMatching +OMIM:620578 UQCC4 skos:exactMatch hgnc.symbol:UQCC4 semapv:UnspecifiedMatching +OMIM:620578 UQCC4 skos:exactMatch ncbigene:283951 semapv:UnspecifiedMatching +OMIM:620579 CCDC3 skos:exactMatch hgnc.symbol:23813 semapv:UnspecifiedMatching +OMIM:620579 CCDC3 skos:exactMatch hgnc.symbol:CCDC3 semapv:UnspecifiedMatching +OMIM:620579 CCDC3 skos:exactMatch ncbigene:83643 semapv:UnspecifiedMatching +OMIM:620580 DQX1 skos:exactMatch hgnc.symbol:20410 semapv:UnspecifiedMatching +OMIM:620580 DQX1 skos:exactMatch hgnc.symbol:DQX1 semapv:UnspecifiedMatching +OMIM:620580 DQX1 skos:exactMatch ncbigene:165545 semapv:UnspecifiedMatching +OMIM:620581 OXNAD1 skos:exactMatch hgnc.symbol:25128 semapv:UnspecifiedMatching +OMIM:620581 OXNAD1 skos:exactMatch hgnc.symbol:OXNAD1 semapv:UnspecifiedMatching +OMIM:620581 OXNAD1 skos:exactMatch ncbigene:92106 semapv:UnspecifiedMatching +OMIM:620582 C1ORF210 skos:exactMatch hgnc.symbol:28755 semapv:UnspecifiedMatching +OMIM:620582 C1ORF210 skos:exactMatch hgnc.symbol:C1orf210 semapv:UnspecifiedMatching +OMIM:620582 C1ORF210 skos:exactMatch ncbigene:149466 semapv:UnspecifiedMatching +OMIM:620584 MIR498 skos:exactMatch hgnc.symbol:32092 semapv:UnspecifiedMatching +OMIM:620584 MIR498 skos:exactMatch hgnc.symbol:MIR498 semapv:UnspecifiedMatching +OMIM:620584 MIR498 skos:exactMatch ncbigene:574460 semapv:UnspecifiedMatching +OMIM:620585 MIR520F skos:exactMatch hgnc.symbol:32096 semapv:UnspecifiedMatching +OMIM:620585 MIR520F skos:exactMatch hgnc.symbol:MIR520F semapv:UnspecifiedMatching +OMIM:620585 MIR520F skos:exactMatch ncbigene:574464 semapv:UnspecifiedMatching +OMIM:620586 MIR515-2 skos:exactMatch hgnc.symbol:32097 semapv:UnspecifiedMatching +OMIM:620586 MIR515-2 skos:exactMatch hgnc.symbol:MIR515-2 semapv:UnspecifiedMatching +OMIM:620586 MIR515-2 skos:exactMatch ncbigene:574465 semapv:UnspecifiedMatching +OMIM:620587 MIR519C skos:exactMatch hgnc.symbol:32098 semapv:UnspecifiedMatching +OMIM:620587 MIR519C skos:exactMatch hgnc.symbol:MIR519C semapv:UnspecifiedMatching +OMIM:620587 MIR519C skos:exactMatch ncbigene:574466 semapv:UnspecifiedMatching +OMIM:620588 MIR520A skos:exactMatch hgnc.symbol:32099 semapv:UnspecifiedMatching +OMIM:620588 MIR520A skos:exactMatch hgnc.symbol:MIR520A semapv:UnspecifiedMatching +OMIM:620588 MIR520A skos:exactMatch ncbigene:574467 semapv:UnspecifiedMatching +OMIM:620589 MIR526B skos:exactMatch hgnc.symbol:32100 semapv:UnspecifiedMatching +OMIM:620589 MIR526B skos:exactMatch hgnc.symbol:MIR526B semapv:UnspecifiedMatching +OMIM:620589 MIR526B skos:exactMatch ncbigene:574468 semapv:UnspecifiedMatching +OMIM:620590 RSAD1 skos:exactMatch hgnc.symbol:25634 semapv:UnspecifiedMatching +OMIM:620590 RSAD1 skos:exactMatch hgnc.symbol:RSAD1 semapv:UnspecifiedMatching +OMIM:620590 RSAD1 skos:exactMatch ncbigene:55316 semapv:UnspecifiedMatching +OMIM:620591 MIR519B skos:exactMatch hgnc.symbol:32101 semapv:UnspecifiedMatching +OMIM:620591 MIR519B skos:exactMatch hgnc.symbol:MIR519B semapv:UnspecifiedMatching +OMIM:620591 MIR519B skos:exactMatch ncbigene:574469 semapv:UnspecifiedMatching +OMIM:620592 MIR525 skos:exactMatch hgnc.symbol:32102 semapv:UnspecifiedMatching +OMIM:620592 MIR525 skos:exactMatch hgnc.symbol:MIR525 semapv:UnspecifiedMatching +OMIM:620592 MIR525 skos:exactMatch ncbigene:574470 semapv:UnspecifiedMatching +OMIM:620593 MIR523 skos:exactMatch hgnc.symbol:32103 semapv:UnspecifiedMatching +OMIM:620593 MIR523 skos:exactMatch hgnc.symbol:MIR523 semapv:UnspecifiedMatching +OMIM:620593 MIR523 skos:exactMatch ncbigene:574471 semapv:UnspecifiedMatching +OMIM:620594 MIR518F skos:exactMatch hgnc.symbol:32104 semapv:UnspecifiedMatching +OMIM:620594 MIR518F skos:exactMatch hgnc.symbol:MIR518F semapv:UnspecifiedMatching +OMIM:620594 MIR518F skos:exactMatch ncbigene:574472 semapv:UnspecifiedMatching +OMIM:620595 MIR520B skos:exactMatch hgnc.symbol:32105 semapv:UnspecifiedMatching +OMIM:620595 MIR520B skos:exactMatch hgnc.symbol:MIR520B semapv:UnspecifiedMatching +OMIM:620595 MIR520B skos:exactMatch ncbigene:574473 semapv:UnspecifiedMatching +OMIM:620596 MIR518B skos:exactMatch hgnc.symbol:32106 semapv:UnspecifiedMatching +OMIM:620596 MIR518B skos:exactMatch hgnc.symbol:MIR518B semapv:UnspecifiedMatching +OMIM:620596 MIR518B skos:exactMatch ncbigene:574474 semapv:UnspecifiedMatching +OMIM:620597 MIR526A1 skos:exactMatch hgnc.symbol:32107 semapv:UnspecifiedMatching +OMIM:620597 MIR526A1 skos:exactMatch hgnc.symbol:MIR526A1 semapv:UnspecifiedMatching +OMIM:620597 MIR526A1 skos:exactMatch ncbigene:574475 semapv:UnspecifiedMatching +OMIM:620598 MIR518C skos:exactMatch hgnc.symbol:32109 semapv:UnspecifiedMatching +OMIM:620598 MIR518C skos:exactMatch hgnc.symbol:MIR518C semapv:UnspecifiedMatching +OMIM:620598 MIR518C skos:exactMatch ncbigene:574477 semapv:UnspecifiedMatching +OMIM:620599 MIR524 skos:exactMatch hgnc.symbol:32110 semapv:UnspecifiedMatching +OMIM:620599 MIR524 skos:exactMatch hgnc.symbol:MIR524 semapv:UnspecifiedMatching +OMIM:620599 MIR524 skos:exactMatch ncbigene:574478 semapv:UnspecifiedMatching +OMIM:620600 MIR517A skos:exactMatch hgnc.symbol:32111 semapv:UnspecifiedMatching +OMIM:620600 MIR517A skos:exactMatch hgnc.symbol:MIR517A semapv:UnspecifiedMatching +OMIM:620600 MIR517A skos:exactMatch ncbigene:574479 semapv:UnspecifiedMatching +OMIM:620604 PTGR3 skos:exactMatch hgnc.symbol:28697 semapv:UnspecifiedMatching +OMIM:620604 PTGR3 skos:exactMatch hgnc.symbol:PTGR3 semapv:UnspecifiedMatching +OMIM:620604 PTGR3 skos:exactMatch ncbigene:284273 semapv:UnspecifiedMatching +OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:33480 semapv:UnspecifiedMatching +OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:CYP27C1 semapv:UnspecifiedMatching +OMIM:620605 CYP27C1 skos:exactMatch ncbigene:339761 semapv:UnspecifiedMatching +OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:30247 semapv:UnspecifiedMatching +OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:TEX264 semapv:UnspecifiedMatching +OMIM:620608 TEX264 skos:exactMatch ncbigene:51368 semapv:UnspecifiedMatching +OMIM:620611 MIR521-2 skos:exactMatch hgnc.symbol:32113 semapv:UnspecifiedMatching +OMIM:620611 MIR521-2 skos:exactMatch hgnc.symbol:MIR521-2 semapv:UnspecifiedMatching +OMIM:620611 MIR521-2 skos:exactMatch ncbigene:574481 semapv:UnspecifiedMatching +OMIM:620612 MIR520D skos:exactMatch hgnc.symbol:32114 semapv:UnspecifiedMatching +OMIM:620612 MIR520D skos:exactMatch hgnc.symbol:MIR520D semapv:UnspecifiedMatching +OMIM:620612 MIR520D skos:exactMatch ncbigene:574482 semapv:UnspecifiedMatching +OMIM:620613 MIR517B skos:exactMatch hgnc.symbol:32115 semapv:UnspecifiedMatching +OMIM:620613 MIR517B skos:exactMatch hgnc.symbol:MIR517B semapv:UnspecifiedMatching +OMIM:620613 MIR517B skos:exactMatch ncbigene:574483 semapv:UnspecifiedMatching +OMIM:620614 MIR516B2 skos:exactMatch hgnc.symbol:32117 semapv:UnspecifiedMatching +OMIM:620614 MIR516B2 skos:exactMatch hgnc.symbol:MIR516B2 semapv:UnspecifiedMatching +OMIM:620614 MIR516B2 skos:exactMatch ncbigene:574485 semapv:UnspecifiedMatching +OMIM:620615 MIR526A2 skos:exactMatch hgnc.symbol:32118 semapv:UnspecifiedMatching +OMIM:620615 MIR526A2 skos:exactMatch hgnc.symbol:MIR526A2 semapv:UnspecifiedMatching +OMIM:620615 MIR526A2 skos:exactMatch ncbigene:574486 semapv:UnspecifiedMatching +OMIM:620616 MIR518E skos:exactMatch hgnc.symbol:32119 semapv:UnspecifiedMatching +OMIM:620616 MIR518E skos:exactMatch hgnc.symbol:MIR518E semapv:UnspecifiedMatching +OMIM:620616 MIR518E skos:exactMatch ncbigene:574487 semapv:UnspecifiedMatching +OMIM:620617 MIR518A1 skos:exactMatch hgnc.symbol:32120 semapv:UnspecifiedMatching +OMIM:620617 MIR518A1 skos:exactMatch hgnc.symbol:MIR518A1 semapv:UnspecifiedMatching +OMIM:620617 MIR518A1 skos:exactMatch ncbigene:574488 semapv:UnspecifiedMatching +OMIM:620618 MIR518D skos:exactMatch hgnc.symbol:32121 semapv:UnspecifiedMatching +OMIM:620618 MIR518D skos:exactMatch hgnc.symbol:MIR518D semapv:UnspecifiedMatching +OMIM:620618 MIR518D skos:exactMatch ncbigene:574489 semapv:UnspecifiedMatching +OMIM:620619 MIR516B1 skos:exactMatch hgnc.symbol:32122 semapv:UnspecifiedMatching +OMIM:620619 MIR516B1 skos:exactMatch hgnc.symbol:MIR516B1 semapv:UnspecifiedMatching +OMIM:620619 MIR516B1 skos:exactMatch ncbigene:574490 semapv:UnspecifiedMatching +OMIM:620620 MIR518A2 skos:exactMatch hgnc.symbol:32123 semapv:UnspecifiedMatching +OMIM:620620 MIR518A2 skos:exactMatch hgnc.symbol:MIR518A2 semapv:UnspecifiedMatching +OMIM:620620 MIR518A2 skos:exactMatch ncbigene:574491 semapv:UnspecifiedMatching +OMIM:620621 MIR517C skos:exactMatch hgnc.symbol:32124 semapv:UnspecifiedMatching +OMIM:620621 MIR517C skos:exactMatch hgnc.symbol:MIR517C semapv:UnspecifiedMatching +OMIM:620621 MIR517C skos:exactMatch ncbigene:574492 semapv:UnspecifiedMatching +OMIM:620622 MIR521-1 skos:exactMatch hgnc.symbol:32126 semapv:UnspecifiedMatching +OMIM:620622 MIR521-1 skos:exactMatch hgnc.symbol:MIR521-1 semapv:UnspecifiedMatching +OMIM:620622 MIR521-1 skos:exactMatch ncbigene:574494 semapv:UnspecifiedMatching +OMIM:620623 MIR522 skos:exactMatch hgnc.symbol:32127 semapv:UnspecifiedMatching +OMIM:620623 MIR522 skos:exactMatch hgnc.symbol:MIR522 semapv:UnspecifiedMatching +OMIM:620623 MIR522 skos:exactMatch ncbigene:574495 semapv:UnspecifiedMatching +OMIM:620624 MIR519A1 skos:exactMatch hgnc.symbol:32128 semapv:UnspecifiedMatching +OMIM:620624 MIR519A1 skos:exactMatch hgnc.symbol:MIR519A1 semapv:UnspecifiedMatching +OMIM:620624 MIR519A1 skos:exactMatch ncbigene:574496 semapv:UnspecifiedMatching +OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:32129 semapv:UnspecifiedMatching +OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:MIR527 semapv:UnspecifiedMatching +OMIM:620625 MIR527 skos:exactMatch ncbigene:574497 semapv:UnspecifiedMatching +OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:29577 semapv:UnspecifiedMatching +OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:TMEM170A semapv:UnspecifiedMatching +OMIM:620630 TMEM170A skos:exactMatch ncbigene:124491 semapv:UnspecifiedMatching +OMIM:620631 EMC7 skos:exactMatch hgnc.symbol:24301 semapv:UnspecifiedMatching +OMIM:620631 EMC7 skos:exactMatch hgnc.symbol:EMC7 semapv:UnspecifiedMatching +OMIM:620631 EMC7 skos:exactMatch ncbigene:56851 semapv:UnspecifiedMatching +OMIM:620633 GOLT1A skos:exactMatch hgnc.symbol:24766 semapv:UnspecifiedMatching +OMIM:620633 GOLT1A skos:exactMatch hgnc.symbol:GOLT1A semapv:UnspecifiedMatching +OMIM:620633 GOLT1A skos:exactMatch ncbigene:127845 semapv:UnspecifiedMatching +OMIM:620634 IRGC skos:exactMatch hgnc.symbol:28835 semapv:UnspecifiedMatching +OMIM:620634 IRGC skos:exactMatch hgnc.symbol:IRGC semapv:UnspecifiedMatching +OMIM:620634 IRGC skos:exactMatch ncbigene:56269 semapv:UnspecifiedMatching +OMIM:620637 CPED1 skos:exactMatch hgnc.symbol:26159 semapv:UnspecifiedMatching +OMIM:620637 CPED1 skos:exactMatch hgnc.symbol:CPED1 semapv:UnspecifiedMatching +OMIM:620637 CPED1 skos:exactMatch ncbigene:79974 semapv:UnspecifiedMatching +OMIM:620638 KCTD4 skos:exactMatch hgnc.symbol:23227 semapv:UnspecifiedMatching +OMIM:620638 KCTD4 skos:exactMatch hgnc.symbol:KCTD4 semapv:UnspecifiedMatching +OMIM:620638 KCTD4 skos:exactMatch ncbigene:386618 semapv:UnspecifiedMatching +OMIM:620640 RNF145 skos:exactMatch hgnc.symbol:20853 semapv:UnspecifiedMatching +OMIM:620640 RNF145 skos:exactMatch hgnc.symbol:RNF145 semapv:UnspecifiedMatching +OMIM:620640 RNF145 skos:exactMatch ncbigene:153830 semapv:UnspecifiedMatching +OMIM:620648 BTNL9 skos:exactMatch hgnc.symbol:24176 semapv:UnspecifiedMatching +OMIM:620648 BTNL9 skos:exactMatch hgnc.symbol:BTNL9 semapv:UnspecifiedMatching +OMIM:620648 BTNL9 skos:exactMatch ncbigene:153579 semapv:UnspecifiedMatching +OMIM:620649 PLA2G4E skos:exactMatch hgnc.symbol:24791 semapv:UnspecifiedMatching +OMIM:620649 PLA2G4E skos:exactMatch hgnc.symbol:PLA2G4E semapv:UnspecifiedMatching +OMIM:620649 PLA2G4E skos:exactMatch ncbigene:123745 semapv:UnspecifiedMatching +OMIM:620650 GLOD4 skos:exactMatch hgnc.symbol:14111 semapv:UnspecifiedMatching +OMIM:620650 GLOD4 skos:exactMatch hgnc.symbol:GLOD4 semapv:UnspecifiedMatching +OMIM:620650 GLOD4 skos:exactMatch ncbigene:51031 semapv:UnspecifiedMatching +OMIM:620652 SH3BP5L skos:exactMatch hgnc.symbol:29360 semapv:UnspecifiedMatching +OMIM:620652 SH3BP5L skos:exactMatch hgnc.symbol:SH3BP5L semapv:UnspecifiedMatching +OMIM:620652 SH3BP5L skos:exactMatch ncbigene:80851 semapv:UnspecifiedMatching +OMIM:620656 PSD2 skos:exactMatch hgnc.symbol:19092 semapv:UnspecifiedMatching +OMIM:620656 PSD2 skos:exactMatch hgnc.symbol:PSD2 semapv:UnspecifiedMatching +OMIM:620656 PSD2 skos:exactMatch ncbigene:84249 semapv:UnspecifiedMatching +OMIM:620660 CCZ1 skos:exactMatch hgnc.symbol:21691 semapv:UnspecifiedMatching +OMIM:620660 CCZ1 skos:exactMatch hgnc.symbol:CCZ1 semapv:UnspecifiedMatching +OMIM:620660 CCZ1 skos:exactMatch ncbigene:51622 semapv:UnspecifiedMatching +OMIM:620661 C10ORF88 skos:exactMatch hgnc.symbol:25822 semapv:UnspecifiedMatching +OMIM:620661 C10ORF88 skos:exactMatch hgnc.symbol:C10orf88 semapv:UnspecifiedMatching +OMIM:620661 C10ORF88 skos:exactMatch ncbigene:80007 semapv:UnspecifiedMatching +OMIM:620664 ARHGEF37 skos:exactMatch hgnc.symbol:34430 semapv:UnspecifiedMatching +OMIM:620664 ARHGEF37 skos:exactMatch hgnc.symbol:ARHGEF37 semapv:UnspecifiedMatching +OMIM:620664 ARHGEF37 skos:exactMatch ncbigene:389337 semapv:UnspecifiedMatching +OMIM:620665 PLEKHG4B skos:exactMatch hgnc.symbol:29399 semapv:UnspecifiedMatching +OMIM:620665 PLEKHG4B skos:exactMatch hgnc.symbol:PLEKHG4B semapv:UnspecifiedMatching +OMIM:620665 PLEKHG4B skos:exactMatch ncbigene:153478 semapv:UnspecifiedMatching +OMIM:620667 CEP128 skos:exactMatch hgnc.symbol:20359 semapv:UnspecifiedMatching +OMIM:620667 CEP128 skos:exactMatch hgnc.symbol:CEP128 semapv:UnspecifiedMatching +OMIM:620667 CEP128 skos:exactMatch ncbigene:145508 semapv:UnspecifiedMatching +OMIM:620671 POU2AF2 skos:exactMatch hgnc.symbol:30527 semapv:UnspecifiedMatching +OMIM:620671 POU2AF2 skos:exactMatch hgnc.symbol:POU2AF2 semapv:UnspecifiedMatching +OMIM:620671 POU2AF2 skos:exactMatch ncbigene:341032 semapv:UnspecifiedMatching +OMIM:620672 LRRC24 skos:exactMatch hgnc.symbol:28947 semapv:UnspecifiedMatching +OMIM:620672 LRRC24 skos:exactMatch hgnc.symbol:LRRC24 semapv:UnspecifiedMatching +OMIM:620672 LRRC24 skos:exactMatch ncbigene:441381 semapv:UnspecifiedMatching +OMIM:620673 MAP1LC3B2 skos:exactMatch hgnc.symbol:34390 semapv:UnspecifiedMatching +OMIM:620673 MAP1LC3B2 skos:exactMatch hgnc.symbol:MAP1LC3B2 semapv:UnspecifiedMatching +OMIM:620673 MAP1LC3B2 skos:exactMatch ncbigene:643246 semapv:UnspecifiedMatching +OMIM:620676 CCDC61 skos:exactMatch hgnc.symbol:33629 semapv:UnspecifiedMatching +OMIM:620676 CCDC61 skos:exactMatch hgnc.symbol:CCDC61 semapv:UnspecifiedMatching +OMIM:620676 CCDC61 skos:exactMatch ncbigene:729440 semapv:UnspecifiedMatching +OMIM:620677 TMEM192 skos:exactMatch hgnc.symbol:26775 semapv:UnspecifiedMatching +OMIM:620677 TMEM192 skos:exactMatch hgnc.symbol:TMEM192 semapv:UnspecifiedMatching +OMIM:620677 TMEM192 skos:exactMatch ncbigene:201931 semapv:UnspecifiedMatching +OMIM:620678 RINL skos:exactMatch hgnc.symbol:24795 semapv:UnspecifiedMatching +OMIM:620678 RINL skos:exactMatch hgnc.symbol:RINL semapv:UnspecifiedMatching +OMIM:620678 RINL skos:exactMatch ncbigene:126432 semapv:UnspecifiedMatching diff --git a/src/mappings/ordo.sssom.tsv b/src/mappings/ordo.sssom.tsv index 50dcaa63..f199bacf 100644 --- a/src/mappings/ordo.sssom.tsv +++ b/src/mappings/ordo.sssom.tsv @@ -1,13 +1,14 @@ -# creator_id: https://orcid.org/0000-0002-2906-7319 +# creator_id: +# - https://orcid.org/0000-0002-2906-7319 # curie_map: # ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ # MESH: http://identifiers.org/mesh/ -# MeSH: http://id.nlm.nih.gov/mesh/ # MedDRA: https://identifiers.org/meddra/ # OMIM: https://omim.org/entry/ +# Orphanet: http://www.orpha.net/ORDO/Orphanet_ # UMLS: http://linkedlifedata.com/resource/umls/id/ +# icd11: https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/ # oboInOwl: http://www.geneontology.org/formats/oboInOwl# -# orphanet.ordo: http://www.orpha.net/ORDO/Orphanet_ # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# @@ -20,25969 +21,38298 @@ # command `make mappings/ordo.sssom.tsv` from within `src/ontology`. ' # mapping_set_id: http://purl.obolibrary.org/obo/mondo/sources/mappings/ordo.sssom.tsv subject_id subject_label predicate_id object_id mapping_justification -orphanet.ordo:10 48,XXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching -orphanet.ordo:10 48,XXYY syndrome oboInOwl:hasDbXref MESH:D007713 semapv:UnspecifiedMatching -orphanet.ordo:10 48,XXYY syndrome oboInOwl:hasDbXref MeSH:D007713 semapv:UnspecifiedMatching -orphanet.ordo:10 48,XXYY syndrome oboInOwl:hasDbXref MedDRA:10048230 semapv:UnspecifiedMatching -orphanet.ordo:10 48,XXYY syndrome oboInOwl:hasDbXref UMLS:C2936741 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref MESH:D001260 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref MeSH:D001260 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref MedDRA:10003594 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208900 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208910 semapv:UnspecifiedMatching -orphanet.ordo:100 Ataxia-telangiectasia oboInOwl:hasDbXref UMLS:C0004135 semapv:UnspecifiedMatching -orphanet.ordo:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref MESH:C537043 semapv:UnspecifiedMatching -orphanet.ordo:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref MeSH:C537043 semapv:UnspecifiedMatching -orphanet.ordo:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref OMIM:300650 semapv:UnspecifiedMatching -orphanet.ordo:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref UMLS:C1845069 semapv:UnspecifiedMatching -orphanet.ordo:100000 Reticular perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:100001 Sclerosing perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:100002 Extraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:100003 Intraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:100003 Intraneural perineurioma oboInOwl:hasDbXref UMLS:C1370658 semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref MESH:C537944 semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref MESH:D028243 semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref MeSH:C537944 semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref MeSH:D028243 semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref UMLS:C2931672 semapv:UnspecifiedMatching -orphanet.ordo:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:100008 ACys amyloidosis oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching -orphanet.ordo:100008 ACys amyloidosis oboInOwl:hasDbXref UMLS:C1527338 semapv:UnspecifiedMatching -orphanet.ordo:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -orphanet.ordo:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref UMLS:C1318550 semapv:UnspecifiedMatching -orphanet.ordo:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -orphanet.ordo:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref UMLS:C1318551 semapv:UnspecifiedMatching -orphanet.ordo:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching -orphanet.ordo:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching -orphanet.ordo:100024 Mu-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching -orphanet.ordo:100024 Mu-heavy chain disease oboInOwl:hasDbXref UMLS:C0242310 semapv:UnspecifiedMatching -orphanet.ordo:100025 Alpha-heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching -orphanet.ordo:100025 Alpha-heavy chain disease oboInOwl:hasDbXref UMLS:C0021071 semapv:UnspecifiedMatching -orphanet.ordo:100026 Gamma-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching -orphanet.ordo:100026 Gamma-heavy chain disease oboInOwl:hasDbXref UMLS:C0018854 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104530 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204650 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617297 semapv:UnspecifiedMatching -orphanet.ordo:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399367 semapv:UnspecifiedMatching -orphanet.ordo:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:130900 semapv:UnspecifiedMatching -orphanet.ordo:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching -orphanet.ordo:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617607 semapv:UnspecifiedMatching -orphanet.ordo:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399376 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref MESH:C536606 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref MeSH:C536606 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204700 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301200 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:612529 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:613211 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:614832 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching -orphanet.ordo:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399372 semapv:UnspecifiedMatching -orphanet.ordo:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching -orphanet.ordo:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching -orphanet.ordo:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref OMIM:177720 semapv:UnspecifiedMatching -orphanet.ordo:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:606483 semapv:UnspecifiedMatching -orphanet.ordo:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C1847896 semapv:UnspecifiedMatching -orphanet.ordo:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching -orphanet.ordo:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref UMLS:C1847902 semapv:UnspecifiedMatching -orphanet.ordo:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:608323 semapv:UnspecifiedMatching -orphanet.ordo:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref UMLS:C1842237 semapv:UnspecifiedMatching -orphanet.ordo:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:607791 semapv:UnspecifiedMatching -orphanet.ordo:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref UMLS:C1843075 semapv:UnspecifiedMatching -orphanet.ordo:100047 Esophageal duplication cyst oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching -orphanet.ordo:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching -orphanet.ordo:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref MESH:C538577 semapv:UnspecifiedMatching -orphanet.ordo:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref MeSH:C538577 semapv:UnspecifiedMatching -orphanet.ordo:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching -orphanet.ordo:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching -orphanet.ordo:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref MESH:D056828 semapv:UnspecifiedMatching -orphanet.ordo:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref MeSH:D056828 semapv:UnspecifiedMatching -orphanet.ordo:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching -orphanet.ordo:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref UMLS:C1960459 semapv:UnspecifiedMatching -orphanet.ordo:100055 Acquired angioedema type 2 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:100056 Acquired angioedema type 1 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref OMIM:300909 semapv:UnspecifiedMatching -orphanet.ordo:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:A39.1+ semapv:UnspecifiedMatching -orphanet.ordo:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* semapv:UnspecifiedMatching -orphanet.ordo:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MESH:D014884 semapv:UnspecifiedMatching -orphanet.ordo:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MeSH:D014884 semapv:UnspecifiedMatching -orphanet.ordo:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MedDRA:10047847 semapv:UnspecifiedMatching -orphanet.ordo:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref UMLS:C0043068 semapv:UnspecifiedMatching -orphanet.ordo:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:100069 Semantic dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching -orphanet.ordo:100069 Semantic dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching -orphanet.ordo:100069 Semantic dementia oboInOwl:hasDbXref UMLS:C0338462 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MESH:D057178 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MeSH:D057178 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MedDRA:10029542 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching -orphanet.ordo:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref UMLS:C0751706 semapv:UnspecifiedMatching -orphanet.ordo:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching -orphanet.ordo:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0751549 semapv:UnspecifiedMatching -orphanet.ordo:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching -orphanet.ordo:100078 Ileal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching -orphanet.ordo:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching -orphanet.ordo:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching -orphanet.ordo:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching -orphanet.ordo:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching -orphanet.ordo:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching -orphanet.ordo:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C32.1 semapv:UnspecifiedMatching -orphanet.ordo:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref ICD10:C30.1 semapv:UnspecifiedMatching -orphanet.ordo:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching -orphanet.ordo:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching -orphanet.ordo:100087 Rare thyroid tumor oboInOwl:hasDbXref UMLS:C0040136 semapv:UnspecifiedMatching -orphanet.ordo:100088 Rare thyroid carcinoma oboInOwl:hasDbXref MedDRA:10007476 semapv:UnspecifiedMatching -orphanet.ordo:100088 Rare thyroid carcinoma oboInOwl:hasDbXref UMLS:C0549473 semapv:UnspecifiedMatching -orphanet.ordo:100090 Rare parathyroid tumor oboInOwl:hasDbXref UMLS:C0030521 semapv:UnspecifiedMatching -orphanet.ordo:100093 Carcinoid syndrome oboInOwl:hasDbXref ICD10:E34.0 semapv:UnspecifiedMatching -orphanet.ordo:100094 Multiple polyglandular tumor oboInOwl:hasDbXref UMLS:C0027662 semapv:UnspecifiedMatching -orphanet.ordo:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching -orphanet.ordo:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref MeSH:C538317 semapv:UnspecifiedMatching -orphanet.ordo:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv:UnspecifiedMatching -orphanet.ordo:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931817 semapv:UnspecifiedMatching -orphanet.ordo:100100 Thymic tumor oboInOwl:hasDbXref UMLS:C3714644 semapv:UnspecifiedMatching -orphanet.ordo:1002 NON RARE IN EUROPE: Cluster headache oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching -orphanet.ordo:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref MESH:C536622 semapv:UnspecifiedMatching -orphanet.ordo:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref MeSH:C536622 semapv:UnspecifiedMatching -orphanet.ordo:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:181250 semapv:UnspecifiedMatching -orphanet.ordo:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C1867021 semapv:UnspecifiedMatching -orphanet.ordo:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537051 semapv:UnspecifiedMatching -orphanet.ordo:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref MeSH:C537051 semapv:UnspecifiedMatching -orphanet.ordo:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:203550 semapv:UnspecifiedMatching -orphanet.ordo:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0795895 semapv:UnspecifiedMatching -orphanet.ordo:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching -orphanet.ordo:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching -orphanet.ordo:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537057 semapv:UnspecifiedMatching -orphanet.ordo:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref MeSH:C537057 semapv:UnspecifiedMatching -orphanet.ordo:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref OMIM:104130 semapv:UnspecifiedMatching -orphanet.ordo:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1863090 semapv:UnspecifiedMatching -orphanet.ordo:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching -orphanet.ordo:100973 FRAXE intellectual disability oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching -orphanet.ordo:100973 FRAXE intellectual disability oboInOwl:hasDbXref OMIM:309548 semapv:UnspecifiedMatching -orphanet.ordo:100974 FRAXF syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching -orphanet.ordo:100976 Bathing suit ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching -orphanet.ordo:100976 Bathing suit ichthyosis oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching -orphanet.ordo:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref MESH:C536864 semapv:UnspecifiedMatching -orphanet.ordo:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref MeSH:C536864 semapv:UnspecifiedMatching -orphanet.ordo:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref OMIM:182600 semapv:UnspecifiedMatching -orphanet.ordo:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref UMLS:C2931355 semapv:UnspecifiedMatching -orphanet.ordo:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref MESH:C536865 semapv:UnspecifiedMatching -orphanet.ordo:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref MeSH:C536865 semapv:UnspecifiedMatching -orphanet.ordo:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref OMIM:182601 semapv:UnspecifiedMatching -orphanet.ordo:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref UMLS:C1866855 semapv:UnspecifiedMatching -orphanet.ordo:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref MESH:C536871 semapv:UnspecifiedMatching -orphanet.ordo:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref MeSH:C536871 semapv:UnspecifiedMatching -orphanet.ordo:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref OMIM:270800 semapv:UnspecifiedMatching -orphanet.ordo:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref UMLS:C1849115 semapv:UnspecifiedMatching -orphanet.ordo:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref MESH:C536866 semapv:UnspecifiedMatching -orphanet.ordo:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref MeSH:C536866 semapv:UnspecifiedMatching -orphanet.ordo:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref OMIM:600363 semapv:UnspecifiedMatching -orphanet.ordo:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref UMLS:C1838192 semapv:UnspecifiedMatching -orphanet.ordo:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref MESH:C536867 semapv:UnspecifiedMatching -orphanet.ordo:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref MeSH:C536867 semapv:UnspecifiedMatching -orphanet.ordo:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref OMIM:603563 semapv:UnspecifiedMatching -orphanet.ordo:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref UMLS:C1863704 semapv:UnspecifiedMatching -orphanet.ordo:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref MESH:C537482 semapv:UnspecifiedMatching -orphanet.ordo:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref MeSH:C537482 semapv:UnspecifiedMatching -orphanet.ordo:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref OMIM:604187 semapv:UnspecifiedMatching -orphanet.ordo:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref UMLS:C1858712 semapv:UnspecifiedMatching -orphanet.ordo:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref MESH:C537484 semapv:UnspecifiedMatching -orphanet.ordo:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref MeSH:C537484 semapv:UnspecifiedMatching -orphanet.ordo:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref OMIM:604805 semapv:UnspecifiedMatching -orphanet.ordo:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref UMLS:C1858106 semapv:UnspecifiedMatching -orphanet.ordo:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref MESH:C537485 semapv:UnspecifiedMatching -orphanet.ordo:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref MeSH:C537485 semapv:UnspecifiedMatching -orphanet.ordo:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref OMIM:605280 semapv:UnspecifiedMatching -orphanet.ordo:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref UMLS:C1854467 semapv:UnspecifiedMatching -orphanet.ordo:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref MESH:C537486 semapv:UnspecifiedMatching -orphanet.ordo:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref MeSH:C537486 semapv:UnspecifiedMatching -orphanet.ordo:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref OMIM:605229 semapv:UnspecifiedMatching -orphanet.ordo:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref UMLS:C1854568 semapv:UnspecifiedMatching -orphanet.ordo:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref MESH:C536642 semapv:UnspecifiedMatching -orphanet.ordo:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref MeSH:C536642 semapv:UnspecifiedMatching -orphanet.ordo:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref OMIM:270700 semapv:UnspecifiedMatching -orphanet.ordo:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref UMLS:C1849128 semapv:UnspecifiedMatching -orphanet.ordo:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref MESH:C536643 semapv:UnspecifiedMatching -orphanet.ordo:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref MeSH:C536643 semapv:UnspecifiedMatching -orphanet.ordo:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref OMIM:300266 semapv:UnspecifiedMatching -orphanet.ordo:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref UMLS:C1846046 semapv:UnspecifiedMatching -orphanet.ordo:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref OMIM:270685 semapv:UnspecifiedMatching -orphanet.ordo:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref UMLS:C2931276 semapv:UnspecifiedMatching -orphanet.ordo:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref MESH:C536856 semapv:UnspecifiedMatching -orphanet.ordo:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref MeSH:C536856 semapv:UnspecifiedMatching -orphanet.ordo:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref OMIM:607152 semapv:UnspecifiedMatching -orphanet.ordo:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref UMLS:C1846685 semapv:UnspecifiedMatching -orphanet.ordo:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref OMIM:125370 semapv:UnspecifiedMatching -orphanet.ordo:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref UMLS:C0751781 semapv:UnspecifiedMatching -orphanet.ordo:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:104100 semapv:UnspecifiedMatching -orphanet.ordo:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C1863093 semapv:UnspecifiedMatching -orphanet.ordo:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref OMIM:275900 semapv:UnspecifiedMatching -orphanet.ordo:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref UMLS:C0393559 semapv:UnspecifiedMatching -orphanet.ordo:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref OMIM:248900 semapv:UnspecifiedMatching -orphanet.ordo:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref UMLS:C1855346 semapv:UnspecifiedMatching -orphanet.ordo:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref OMIM:270750 semapv:UnspecifiedMatching -orphanet.ordo:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref UMLS:C0796019 semapv:UnspecifiedMatching -orphanet.ordo:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref OMIM:607584 semapv:UnspecifiedMatching -orphanet.ordo:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref UMLS:C1843569 semapv:UnspecifiedMatching -orphanet.ordo:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref MESH:C536861 semapv:UnspecifiedMatching -orphanet.ordo:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref MeSH:C536861 semapv:UnspecifiedMatching -orphanet.ordo:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref OMIM:608220 semapv:UnspecifiedMatching -orphanet.ordo:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref UMLS:C2936860 semapv:UnspecifiedMatching -orphanet.ordo:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref MESH:C536862 semapv:UnspecifiedMatching -orphanet.ordo:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref MeSH:C536862 semapv:UnspecifiedMatching -orphanet.ordo:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref OMIM:609195 semapv:UnspecifiedMatching -orphanet.ordo:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref UMLS:C1836632 semapv:UnspecifiedMatching -orphanet.ordo:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref OMIM:609041 semapv:UnspecifiedMatching -orphanet.ordo:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref UMLS:C1836899 semapv:UnspecifiedMatching -orphanet.ordo:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref OMIM:609340 semapv:UnspecifiedMatching -orphanet.ordo:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref UMLS:C1836295 semapv:UnspecifiedMatching -orphanet.ordo:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref MESH:C536863 semapv:UnspecifiedMatching -orphanet.ordo:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref MeSH:C536863 semapv:UnspecifiedMatching -orphanet.ordo:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref OMIM:609727 semapv:UnspecifiedMatching -orphanet.ordo:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref UMLS:C1857855 semapv:UnspecifiedMatching -orphanet.ordo:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref OMIM:610357 semapv:UnspecifiedMatching -orphanet.ordo:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref UMLS:C1835896 semapv:UnspecifiedMatching -orphanet.ordo:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref OMIM:610250 semapv:UnspecifiedMatching -orphanet.ordo:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref UMLS:C1853247 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref MESH:D029597 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref MeSH:D029597 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref MedDRA:10039211 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:603830 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611818 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611820 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:612955 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613693 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613695 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching -orphanet.ordo:101016 Romano-Ward syndrome oboInOwl:hasDbXref UMLS:C0035828 semapv:UnspecifiedMatching -orphanet.ordo:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching -orphanet.ordo:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref UMLS:C0272281 semapv:UnspecifiedMatching -orphanet.ordo:101023 Cleft hard palate oboInOwl:hasDbXref ICD10:Q35.1 semapv:UnspecifiedMatching -orphanet.ordo:101028 Transaldolase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:101028 Transaldolase deficiency oboInOwl:hasDbXref OMIM:606003 semapv:UnspecifiedMatching -orphanet.ordo:101028 Transaldolase deficiency oboInOwl:hasDbXref UMLS:C1291329 semapv:UnspecifiedMatching -orphanet.ordo:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref MedDRA:10071150 semapv:UnspecifiedMatching -orphanet.ordo:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref UMLS:C3160906 semapv:UnspecifiedMatching -orphanet.ordo:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching -orphanet.ordo:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref UMLS:C1848137 semapv:UnspecifiedMatching -orphanet.ordo:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching -orphanet.ordo:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref UMLS:C2584774 semapv:UnspecifiedMatching -orphanet.ordo:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching -orphanet.ordo:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref UMLS:C0344993 semapv:UnspecifiedMatching -orphanet.ordo:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:600512 semapv:UnspecifiedMatching -orphanet.ordo:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616436 semapv:UnspecifiedMatching -orphanet.ordo:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616461 semapv:UnspecifiedMatching -orphanet.ordo:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref UMLS:C1838062 semapv:UnspecifiedMatching -orphanet.ordo:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref MESH:C537146 semapv:UnspecifiedMatching -orphanet.ordo:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref MeSH:C537146 semapv:UnspecifiedMatching -orphanet.ordo:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching -orphanet.ordo:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref UMLS:C1840347 semapv:UnspecifiedMatching -orphanet.ordo:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref MESH:C537147 semapv:UnspecifiedMatching -orphanet.ordo:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref MeSH:C537147 semapv:UnspecifiedMatching -orphanet.ordo:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching -orphanet.ordo:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref UMLS:C1833372 semapv:UnspecifiedMatching -orphanet.ordo:101063 Situs inversus totalis oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching -orphanet.ordo:101063 Situs inversus totalis oboInOwl:hasDbXref UMLS:C0037221 semapv:UnspecifiedMatching -orphanet.ordo:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref OMIM:610048 semapv:UnspecifiedMatching -orphanet.ordo:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref UMLS:C1864738 semapv:UnspecifiedMatching -orphanet.ordo:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref OMIM:606854 semapv:UnspecifiedMatching -orphanet.ordo:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref UMLS:C1847352 semapv:UnspecifiedMatching -orphanet.ordo:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref MESH:C535919 semapv:UnspecifiedMatching -orphanet.ordo:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref MeSH:C535919 semapv:UnspecifiedMatching -orphanet.ordo:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching -orphanet.ordo:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0393808 semapv:UnspecifiedMatching -orphanet.ordo:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:302801 semapv:UnspecifiedMatching -orphanet.ordo:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C1844873 semapv:UnspecifiedMatching -orphanet.ordo:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref OMIM:302802 semapv:UnspecifiedMatching -orphanet.ordo:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref UMLS:C1844865 semapv:UnspecifiedMatching -orphanet.ordo:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:310490 semapv:UnspecifiedMatching -orphanet.ordo:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C0795910 semapv:UnspecifiedMatching -orphanet.ordo:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref OMIM:118220 semapv:UnspecifiedMatching -orphanet.ordo:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref UMLS:C0270911 semapv:UnspecifiedMatching -orphanet.ordo:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 semapv:UnspecifiedMatching -orphanet.ordo:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref UMLS:C0270912 semapv:UnspecifiedMatching -orphanet.ordo:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MESH:C537984 semapv:UnspecifiedMatching -orphanet.ordo:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MeSH:C537984 semapv:UnspecifiedMatching -orphanet.ordo:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 semapv:UnspecifiedMatching -orphanet.ordo:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref UMLS:C0270913 semapv:UnspecifiedMatching -orphanet.ordo:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MESH:C537985 semapv:UnspecifiedMatching -orphanet.ordo:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MeSH:C537985 semapv:UnspecifiedMatching -orphanet.ordo:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 semapv:UnspecifiedMatching -orphanet.ordo:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref UMLS:C1843247 semapv:UnspecifiedMatching -orphanet.ordo:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching -orphanet.ordo:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref UMLS:C1843164 semapv:UnspecifiedMatching -orphanet.ordo:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching -orphanet.ordo:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref UMLS:C0398689 semapv:UnspecifiedMatching -orphanet.ordo:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching -orphanet.ordo:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref UMLS:C1720956 semapv:UnspecifiedMatching -orphanet.ordo:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching -orphanet.ordo:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref UMLS:C1720957 semapv:UnspecifiedMatching -orphanet.ordo:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching -orphanet.ordo:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref UMLS:C1842413 semapv:UnspecifiedMatching -orphanet.ordo:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching -orphanet.ordo:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref UMLS:C1720958 semapv:UnspecifiedMatching -orphanet.ordo:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:101096 Aregenerative anemia oboInOwl:hasDbXref MedDRA:10054329 semapv:UnspecifiedMatching -orphanet.ordo:101096 Aregenerative anemia oboInOwl:hasDbXref UMLS:C0002893 semapv:UnspecifiedMatching -orphanet.ordo:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607706 semapv:UnspecifiedMatching -orphanet.ordo:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching -orphanet.ordo:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref UMLS:C1842983 semapv:UnspecifiedMatching -orphanet.ordo:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref MESH:C537053 semapv:UnspecifiedMatching -orphanet.ordo:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref MeSH:C537053 semapv:UnspecifiedMatching -orphanet.ordo:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref UMLS:C2931406 semapv:UnspecifiedMatching -orphanet.ordo:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 semapv:UnspecifiedMatching -orphanet.ordo:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MeSH:C537991 semapv:UnspecifiedMatching -orphanet.ordo:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 semapv:UnspecifiedMatching -orphanet.ordo:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref UMLS:C1854150 semapv:UnspecifiedMatching -orphanet.ordo:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref MESH:C535415 semapv:UnspecifiedMatching -orphanet.ordo:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref MeSH:C535415 semapv:UnspecifiedMatching -orphanet.ordo:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref OMIM:607731 semapv:UnspecifiedMatching -orphanet.ordo:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref UMLS:C1843173 semapv:UnspecifiedMatching -orphanet.ordo:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref MESH:C542540 semapv:UnspecifiedMatching -orphanet.ordo:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref MeSH:C542540 semapv:UnspecifiedMatching -orphanet.ordo:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching -orphanet.ordo:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref UMLS:C2746067 semapv:UnspecifiedMatching -orphanet.ordo:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref MESH:C537201 semapv:UnspecifiedMatching -orphanet.ordo:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref MeSH:C537201 semapv:UnspecifiedMatching -orphanet.ordo:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref OMIM:610245 semapv:UnspecifiedMatching -orphanet.ordo:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref UMLS:C1853250 semapv:UnspecifiedMatching -orphanet.ordo:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref MESH:C537205 semapv:UnspecifiedMatching -orphanet.ordo:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref MeSH:C537205 semapv:UnspecifiedMatching -orphanet.ordo:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref OMIM:610246 semapv:UnspecifiedMatching -orphanet.ordo:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref UMLS:C1853249 semapv:UnspecifiedMatching -orphanet.ordo:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref MESH:C537199 semapv:UnspecifiedMatching -orphanet.ordo:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref MeSH:C537199 semapv:UnspecifiedMatching -orphanet.ordo:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref OMIM:608687 semapv:UnspecifiedMatching -orphanet.ordo:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref UMLS:C1837541 semapv:UnspecifiedMatching -orphanet.ordo:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref MESH:C537202 semapv:UnspecifiedMatching -orphanet.ordo:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref MeSH:C537202 semapv:UnspecifiedMatching -orphanet.ordo:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref OMIM:608703 semapv:UnspecifiedMatching -orphanet.ordo:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref UMLS:C1837518 semapv:UnspecifiedMatching -orphanet.ordo:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref MESH:C537203 semapv:UnspecifiedMatching -orphanet.ordo:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref MeSH:C537203 semapv:UnspecifiedMatching -orphanet.ordo:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref OMIM:609306 semapv:UnspecifiedMatching -orphanet.ordo:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref UMLS:C1836395 semapv:UnspecifiedMatching -orphanet.ordo:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref OMIM:605407 semapv:UnspecifiedMatching -orphanet.ordo:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C2673535 semapv:UnspecifiedMatching -orphanet.ordo:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MESH:D017119 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MeSH:D017119 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MedDRA:10036183 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching -orphanet.ordo:101330 Porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0162566 semapv:UnspecifiedMatching -orphanet.ordo:101334 African tick typhus oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching -orphanet.ordo:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching -orphanet.ordo:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref OMIM:271400 semapv:UnspecifiedMatching -orphanet.ordo:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:601217 semapv:UnspecifiedMatching -orphanet.ordo:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1832593 semapv:UnspecifiedMatching -orphanet.ordo:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -orphanet.ordo:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -orphanet.ordo:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -orphanet.ordo:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -orphanet.ordo:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:150700 semapv:UnspecifiedMatching -orphanet.ordo:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:308940 semapv:UnspecifiedMatching -orphanet.ordo:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:1019 Epstein syndrome oboInOwl:hasDbXref MESH:C535507 semapv:UnspecifiedMatching -orphanet.ordo:1019 Epstein syndrome oboInOwl:hasDbXref MeSH:C535507 semapv:UnspecifiedMatching -orphanet.ordo:1019 Epstein syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching -orphanet.ordo:1019 Epstein syndrome oboInOwl:hasDbXref UMLS:C0398641 semapv:UnspecifiedMatching -orphanet.ordo:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:101937 Rare pancreatic disease oboInOwl:hasDbXref UMLS:C0030286 semapv:UnspecifiedMatching -orphanet.ordo:101938 Rare vascular liver disease oboInOwl:hasDbXref UMLS:C0400923 semapv:UnspecifiedMatching -orphanet.ordo:101940 Rare metabolic liver disease oboInOwl:hasDbXref MedDRA:10019689 semapv:UnspecifiedMatching -orphanet.ordo:101940 Rare metabolic liver disease oboInOwl:hasDbXref UMLS:C0851734 semapv:UnspecifiedMatching -orphanet.ordo:101944 Rare pulmonary disease oboInOwl:hasDbXref UMLS:C0024115 semapv:UnspecifiedMatching -orphanet.ordo:101950 Rare eye tumor oboInOwl:hasDbXref UMLS:C0015414 semapv:UnspecifiedMatching -orphanet.ordo:101952 Rare diabetes mellitus oboInOwl:hasDbXref UMLS:C0011849 semapv:UnspecifiedMatching -orphanet.ordo:101952 Rare diabetes mellitus oboInOwl:hasDbXref UMLS:C0011860 semapv:UnspecifiedMatching -orphanet.ordo:101953 Rare dyslipidemia oboInOwl:hasDbXref UMLS:C0242339 semapv:UnspecifiedMatching -orphanet.ordo:101954 Rare adrenal disease oboInOwl:hasDbXref UMLS:C0001621 semapv:UnspecifiedMatching -orphanet.ordo:101955 Rare thyroid disease oboInOwl:hasDbXref UMLS:C0040128 semapv:UnspecifiedMatching -orphanet.ordo:101957 Pituitary deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:101957 Pituitary deficiency oboInOwl:hasDbXref UMLS:C0020635 semapv:UnspecifiedMatching -orphanet.ordo:101958 Primary adrenal insufficiency oboInOwl:hasDbXref MedDRA:10052381 semapv:UnspecifiedMatching -orphanet.ordo:101959 Chronic primary adrenal insufficiency oboInOwl:hasDbXref UMLS:C0001403 semapv:UnspecifiedMatching -orphanet.ordo:101972 Combined T and B cell immunodeficiency oboInOwl:hasDbXref ICD10:D81 semapv:UnspecifiedMatching -orphanet.ordo:101987 Constitutional neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:101995 Periodic fever syndrome oboInOwl:hasDbXref MedDRA:10034533 semapv:UnspecifiedMatching -orphanet.ordo:101995 Periodic fever syndrome oboInOwl:hasDbXref UMLS:C0015974 semapv:UnspecifiedMatching -orphanet.ordo:101997 Primary immunodeficiency oboInOwl:hasDbXref MedDRA:10064859 semapv:UnspecifiedMatching -orphanet.ordo:101997 Primary immunodeficiency oboInOwl:hasDbXref UMLS:C0398686 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref MESH:D019578 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref MeSH:D019578 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref MedDRA:10064060 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref OMIM:146500 semapv:UnspecifiedMatching -orphanet.ordo:102 Multiple system atrophy oboInOwl:hasDbXref UMLS:C0393571 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104300 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104310 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:602096 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:604154 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:605055 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:605526 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:606187 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:606889 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:607116 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:607822 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:609636 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:609790 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611073 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611152 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611154 semapv:UnspecifiedMatching -orphanet.ordo:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref UMLS:C0276496 semapv:UnspecifiedMatching -orphanet.ordo:102003 Rare movement disorder oboInOwl:hasDbXref UMLS:C0026650 semapv:UnspecifiedMatching -orphanet.ordo:102009 Classic lissencephaly oboInOwl:hasDbXref UMLS:C0431375 semapv:UnspecifiedMatching -orphanet.ordo:102011 Lissencephaly type 3 oboInOwl:hasDbXref UMLS:C1969029 semapv:UnspecifiedMatching -orphanet.ordo:102012 Pure hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0393555 semapv:UnspecifiedMatching -orphanet.ordo:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C2931907 semapv:UnspecifiedMatching -orphanet.ordo:102020 Autosomal monosomy oboInOwl:hasDbXref UMLS:C0026499 semapv:UnspecifiedMatching -orphanet.ordo:102021 Rickettsial disease oboInOwl:hasDbXref UMLS:C0035585 semapv:UnspecifiedMatching -orphanet.ordo:102023 Typhus-group rickettsiosis oboInOwl:hasDbXref UMLS:C0343758 semapv:UnspecifiedMatching -orphanet.ordo:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref MESH:C536604 semapv:UnspecifiedMatching -orphanet.ordo:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref MeSH:C536604 semapv:UnspecifiedMatching -orphanet.ordo:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:204110 semapv:UnspecifiedMatching -orphanet.ordo:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C1857588 semapv:UnspecifiedMatching -orphanet.ordo:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching -orphanet.ordo:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref MESH:C536605 semapv:UnspecifiedMatching -orphanet.ordo:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref MeSH:C536605 semapv:UnspecifiedMatching -orphanet.ordo:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching -orphanet.ordo:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref UMLS:C1840362 semapv:UnspecifiedMatching -orphanet.ordo:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching -orphanet.ordo:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:1027 Autosomal recessive amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -orphanet.ordo:1027 Autosomal recessive amelia oboInOwl:hasDbXref OMIM:601360 semapv:UnspecifiedMatching -orphanet.ordo:1027 Autosomal recessive amelia oboInOwl:hasDbXref UMLS:C1832432 semapv:UnspecifiedMatching -orphanet.ordo:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref MESH:C538245 semapv:UnspecifiedMatching -orphanet.ordo:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref MeSH:C538245 semapv:UnspecifiedMatching -orphanet.ordo:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref OMIM:104570 semapv:UnspecifiedMatching -orphanet.ordo:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref UMLS:C1863006 semapv:UnspecifiedMatching -orphanet.ordo:1031 Enamel-renal syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:1031 Enamel-renal syndrome oboInOwl:hasDbXref MESH:C538241 semapv:UnspecifiedMatching -orphanet.ordo:1031 Enamel-renal syndrome oboInOwl:hasDbXref MeSH:C538241 semapv:UnspecifiedMatching -orphanet.ordo:1031 Enamel-renal syndrome oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching -orphanet.ordo:1031 Enamel-renal syndrome oboInOwl:hasDbXref UMLS:C2931783 semapv:UnspecifiedMatching -orphanet.ordo:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref OMIM:249650 semapv:UnspecifiedMatching -orphanet.ordo:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref UMLS:C0796055 semapv:UnspecifiedMatching -orphanet.ordo:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching -orphanet.ordo:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C536613 semapv:UnspecifiedMatching -orphanet.ordo:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref MeSH:C536613 semapv:UnspecifiedMatching -orphanet.ordo:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref MedDRA:10051643 semapv:UnspecifiedMatching -orphanet.ordo:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C2931264 semapv:UnspecifiedMatching -orphanet.ordo:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching -orphanet.ordo:103908 Congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -orphanet.ordo:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:270420 semapv:UnspecifiedMatching -orphanet.ordo:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:616868 semapv:UnspecifiedMatching -orphanet.ordo:103908 Congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C0267663 semapv:UnspecifiedMatching -orphanet.ordo:103909 Trehalase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching -orphanet.ordo:103909 Trehalase deficiency oboInOwl:hasDbXref OMIM:612119 semapv:UnspecifiedMatching -orphanet.ordo:103909 Trehalase deficiency oboInOwl:hasDbXref UMLS:C0268187 semapv:UnspecifiedMatching -orphanet.ordo:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching -orphanet.ordo:103918 Tropical pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching -orphanet.ordo:103918 Tropical pancreatitis oboInOwl:hasDbXref OMIM:608189 semapv:UnspecifiedMatching -orphanet.ordo:103918 Tropical pancreatitis oboInOwl:hasDbXref UMLS:C1842402 semapv:UnspecifiedMatching -orphanet.ordo:103919 Autoimmune pancreatitis oboInOwl:hasDbXref MedDRA:10069002 semapv:UnspecifiedMatching -orphanet.ordo:103919 Autoimmune pancreatitis oboInOwl:hasDbXref UMLS:C2609129 semapv:UnspecifiedMatching -orphanet.ordo:103920 Undetermined colitis oboInOwl:hasDbXref ICD10:K52.3 semapv:UnspecifiedMatching -orphanet.ordo:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:308905 semapv:UnspecifiedMatching -orphanet.ordo:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching -orphanet.ordo:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:619382 semapv:UnspecifiedMatching -orphanet.ordo:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C0917796 semapv:UnspecifiedMatching -orphanet.ordo:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref MESH:C537351 semapv:UnspecifiedMatching -orphanet.ordo:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref MeSH:C537351 semapv:UnspecifiedMatching -orphanet.ordo:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching -orphanet.ordo:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:613073 semapv:UnspecifiedMatching -orphanet.ordo:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref UMLS:C0432226 semapv:UnspecifiedMatching -orphanet.ordo:104008 Short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching -orphanet.ordo:104008 Short bowel syndrome oboInOwl:hasDbXref MeSH:D012778 semapv:UnspecifiedMatching -orphanet.ordo:104008 Short bowel syndrome oboInOwl:hasDbXref MedDRA:10049416 semapv:UnspecifiedMatching -orphanet.ordo:104008 Short bowel syndrome oboInOwl:hasDbXref UMLS:C0036992 semapv:UnspecifiedMatching -orphanet.ordo:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MESH:D044483 semapv:UnspecifiedMatching -orphanet.ordo:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MeSH:D044483 semapv:UnspecifiedMatching -orphanet.ordo:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MedDRA:10057018 semapv:UnspecifiedMatching -orphanet.ordo:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref UMLS:C0345891 semapv:UnspecifiedMatching -orphanet.ordo:104011 Rare tumor of intestine oboInOwl:hasDbXref UMLS:C0021841 semapv:UnspecifiedMatching -orphanet.ordo:104012 Rare inflammatory bowel disease oboInOwl:hasDbXref UMLS:C0021390 semapv:UnspecifiedMatching -orphanet.ordo:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref ICD10:D01.4 semapv:UnspecifiedMatching -orphanet.ordo:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref UMLS:C0278803 semapv:UnspecifiedMatching -orphanet.ordo:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching -orphanet.ordo:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching -orphanet.ordo:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching -orphanet.ordo:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching -orphanet.ordo:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching -orphanet.ordo:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref UMLS:C0920305 semapv:UnspecifiedMatching -orphanet.ordo:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.9 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref MESH:D015160 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref MeSH:D015160 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref MedDRA:10020529 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching -orphanet.ordo:1041 Hydrops fetalis oboInOwl:hasDbXref UMLS:C0020305 semapv:UnspecifiedMatching -orphanet.ordo:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref OMIM:600461 semapv:UnspecifiedMatching -orphanet.ordo:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref UMLS:C1838120 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref MESH:D000756 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref MeSH:D000756 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref MedDRA:10040661 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:182170 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:205950 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:300751 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:619523 semapv:UnspecifiedMatching -orphanet.ordo:1047 Sideroblastic anemia oboInOwl:hasDbXref UMLS:C0002896 semapv:UnspecifiedMatching -orphanet.ordo:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref OMIM:206500 semapv:UnspecifiedMatching -orphanet.ordo:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref OMIM:619452 semapv:UnspecifiedMatching -orphanet.ordo:105 Atresia of urethra oboInOwl:hasDbXref ICD10:Q64.3 semapv:UnspecifiedMatching -orphanet.ordo:105 Atresia of urethra oboInOwl:hasDbXref MedDRA:10064895 semapv:UnspecifiedMatching -orphanet.ordo:105 Atresia of urethra oboInOwl:hasDbXref UMLS:C0345345 semapv:UnspecifiedMatching -orphanet.ordo:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref OMIM:122430 semapv:UnspecifiedMatching -orphanet.ordo:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref UMLS:C2930866 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref MESH:C536987 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref MeSH:C536987 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:257300 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:614114 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:617598 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:620153 semapv:UnspecifiedMatching -orphanet.ordo:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:620189 semapv:UnspecifiedMatching -orphanet.ordo:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -orphanet.ordo:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MESH:C536535 semapv:UnspecifiedMatching -orphanet.ordo:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MeSH:C536535 semapv:UnspecifiedMatching -orphanet.ordo:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref OMIM:618196 semapv:UnspecifiedMatching -orphanet.ordo:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref UMLS:C0431420 semapv:UnspecifiedMatching -orphanet.ordo:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:1059 Blue rubber bleb nevus oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching -orphanet.ordo:1059 Blue rubber bleb nevus oboInOwl:hasDbXref MESH:C536240 semapv:UnspecifiedMatching -orphanet.ordo:1059 Blue rubber bleb nevus oboInOwl:hasDbXref MeSH:C536240 semapv:UnspecifiedMatching -orphanet.ordo:1059 Blue rubber bleb nevus oboInOwl:hasDbXref OMIM:112200 semapv:UnspecifiedMatching -orphanet.ordo:1059 Blue rubber bleb nevus oboInOwl:hasDbXref UMLS:C0346072 semapv:UnspecifiedMatching -orphanet.ordo:106 NON RARE IN EUROPE: Autism oboInOwl:hasDbXref ICD10:F84.0 semapv:UnspecifiedMatching -orphanet.ordo:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref MESH:C536364 semapv:UnspecifiedMatching -orphanet.ordo:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref MeSH:C536364 semapv:UnspecifiedMatching -orphanet.ordo:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref OMIM:106070 semapv:UnspecifiedMatching -orphanet.ordo:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref UMLS:C1275084 semapv:UnspecifiedMatching -orphanet.ordo:1063 Tufted angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:1063 Tufted angioma oboInOwl:hasDbXref MESH:C536924 semapv:UnspecifiedMatching -orphanet.ordo:1063 Tufted angioma oboInOwl:hasDbXref MeSH:C536924 semapv:UnspecifiedMatching -orphanet.ordo:1063 Tufted angioma oboInOwl:hasDbXref OMIM:607859 semapv:UnspecifiedMatching -orphanet.ordo:1063 Tufted angioma oboInOwl:hasDbXref UMLS:C0346073 semapv:UnspecifiedMatching -orphanet.ordo:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref MESH:C536371 semapv:UnspecifiedMatching -orphanet.ordo:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref MeSH:C536371 semapv:UnspecifiedMatching -orphanet.ordo:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref OMIM:206750 semapv:UnspecifiedMatching -orphanet.ordo:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref UMLS:C1859782 semapv:UnspecifiedMatching -orphanet.ordo:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:206700 semapv:UnspecifiedMatching -orphanet.ordo:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0431401 semapv:UnspecifiedMatching -orphanet.ordo:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching -orphanet.ordo:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching -orphanet.ordo:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536568 semapv:UnspecifiedMatching -orphanet.ordo:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref MeSH:C536568 semapv:UnspecifiedMatching -orphanet.ordo:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931243 semapv:UnspecifiedMatching -orphanet.ordo:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref OMIM:106220 semapv:UnspecifiedMatching -orphanet.ordo:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref UMLS:C1862868 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref MESH:D019280 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref MeSH:D019280 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref MedDRA:10071135 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref OMIM:113650 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref OMIM:610896 semapv:UnspecifiedMatching -orphanet.ordo:107 BOR syndrome oboInOwl:hasDbXref UMLS:C0265234 semapv:UnspecifiedMatching -orphanet.ordo:1070 Anisakiasis oboInOwl:hasDbXref ICD10:B81.0 semapv:UnspecifiedMatching -orphanet.ordo:1070 Anisakiasis oboInOwl:hasDbXref MESH:D017129 semapv:UnspecifiedMatching -orphanet.ordo:1070 Anisakiasis oboInOwl:hasDbXref MeSH:D017129 semapv:UnspecifiedMatching -orphanet.ordo:1070 Anisakiasis oboInOwl:hasDbXref MedDRA:10002533 semapv:UnspecifiedMatching -orphanet.ordo:1070 Anisakiasis oboInOwl:hasDbXref UMLS:C0162576 semapv:UnspecifiedMatching -orphanet.ordo:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching -orphanet.ordo:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref MeSH:C535289 semapv:UnspecifiedMatching -orphanet.ordo:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:106260 semapv:UnspecifiedMatching -orphanet.ordo:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C1785148 semapv:UnspecifiedMatching -orphanet.ordo:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref MESH:C536373 semapv:UnspecifiedMatching -orphanet.ordo:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref MeSH:C536373 semapv:UnspecifiedMatching -orphanet.ordo:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref OMIM:106250 semapv:UnspecifiedMatching -orphanet.ordo:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1862866 semapv:UnspecifiedMatching -orphanet.ordo:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1077 Dental ankylosis oboInOwl:hasDbXref ICD10:K03.5 semapv:UnspecifiedMatching -orphanet.ordo:1077 Dental ankylosis oboInOwl:hasDbXref MESH:D020254 semapv:UnspecifiedMatching -orphanet.ordo:1077 Dental ankylosis oboInOwl:hasDbXref MeSH:D020254 semapv:UnspecifiedMatching -orphanet.ordo:1077 Dental ankylosis oboInOwl:hasDbXref MedDRA:10044019 semapv:UnspecifiedMatching -orphanet.ordo:1077 Dental ankylosis oboInOwl:hasDbXref UMLS:C0155930 semapv:UnspecifiedMatching -orphanet.ordo:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537511 semapv:UnspecifiedMatching -orphanet.ordo:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref MeSH:C537511 semapv:UnspecifiedMatching -orphanet.ordo:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref OMIM:188201 semapv:UnspecifiedMatching -orphanet.ordo:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931515 semapv:UnspecifiedMatching -orphanet.ordo:108 Babesiosis oboInOwl:hasDbXref ICD10:B60.0 semapv:UnspecifiedMatching -orphanet.ordo:108 Babesiosis oboInOwl:hasDbXref MESH:D001404 semapv:UnspecifiedMatching -orphanet.ordo:108 Babesiosis oboInOwl:hasDbXref MeSH:D001404 semapv:UnspecifiedMatching -orphanet.ordo:108 Babesiosis oboInOwl:hasDbXref MedDRA:10003965 semapv:UnspecifiedMatching -orphanet.ordo:108 Babesiosis oboInOwl:hasDbXref UMLS:C0004576 semapv:UnspecifiedMatching -orphanet.ordo:1081 Coronary artery congenital malformation oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:1081 Coronary artery congenital malformation oboInOwl:hasDbXref MedDRA:10061060 semapv:UnspecifiedMatching -orphanet.ordo:1081 Coronary artery congenital malformation oboInOwl:hasDbXref UMLS:C0158623 semapv:UnspecifiedMatching -orphanet.ordo:1083 Microlissencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:1083 Microlissencephaly oboInOwl:hasDbXref OMIM:614019 semapv:UnspecifiedMatching -orphanet.ordo:1083 Microlissencephaly oboInOwl:hasDbXref OMIM:616212 semapv:UnspecifiedMatching -orphanet.ordo:1083 Microlissencephaly oboInOwl:hasDbXref UMLS:C1956147 semapv:UnspecifiedMatching -orphanet.ordo:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:108997 Rare anemia oboInOwl:hasDbXref UMLS:C0002871 semapv:UnspecifiedMatching -orphanet.ordo:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching -orphanet.ordo:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref UMLS:C0265326 semapv:UnspecifiedMatching -orphanet.ordo:109007 Arthrogryposis syndrome oboInOwl:hasDbXref MESH:D001176 semapv:UnspecifiedMatching -orphanet.ordo:109007 Arthrogryposis syndrome oboInOwl:hasDbXref MeSH:D001176 semapv:UnspecifiedMatching -orphanet.ordo:109007 Arthrogryposis syndrome oboInOwl:hasDbXref UMLS:C0003886 semapv:UnspecifiedMatching -orphanet.ordo:109009 Syndrome with limb malformations as a major feature oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1092 Renal-genital-middle ear anomalies oboInOwl:hasDbXref OMIM:267400 semapv:UnspecifiedMatching -orphanet.ordo:1092 Renal-genital-middle ear anomalies oboInOwl:hasDbXref UMLS:C1849432 semapv:UnspecifiedMatching -orphanet.ordo:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref MESH:C536948 semapv:UnspecifiedMatching -orphanet.ordo:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref MeSH:C536948 semapv:UnspecifiedMatching -orphanet.ordo:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref OMIM:607214 semapv:UnspecifiedMatching -orphanet.ordo:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref UMLS:C2931373 semapv:UnspecifiedMatching -orphanet.ordo:11 Pentasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching -orphanet.ordo:11 Pentasomy X oboInOwl:hasDbXref MESH:C535319 semapv:UnspecifiedMatching -orphanet.ordo:11 Pentasomy X oboInOwl:hasDbXref MeSH:C535319 semapv:UnspecifiedMatching -orphanet.ordo:11 Pentasomy X oboInOwl:hasDbXref UMLS:C0265497 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MESH:D020788 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MeSH:D020788 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MedDRA:10056715 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:209900 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:600151 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:605231 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615981 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615982 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615983 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615984 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615985 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615986 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615987 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615988 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615989 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615990 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615991 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615992 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615993 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615994 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615995 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615996 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617119 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617406 semapv:UnspecifiedMatching -orphanet.ordo:110 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS:C0752166 semapv:UnspecifiedMatching -orphanet.ordo:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref MESH:C537767 semapv:UnspecifiedMatching -orphanet.ordo:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref MeSH:C537767 semapv:UnspecifiedMatching -orphanet.ordo:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref OMIM:600776 semapv:UnspecifiedMatching -orphanet.ordo:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref UMLS:C1833339 semapv:UnspecifiedMatching -orphanet.ordo:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref OMIM:206920 semapv:UnspecifiedMatching -orphanet.ordo:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref UMLS:C0599973 semapv:UnspecifiedMatching -orphanet.ordo:111 Barth syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:111 Barth syndrome oboInOwl:hasDbXref MESH:D056889 semapv:UnspecifiedMatching -orphanet.ordo:111 Barth syndrome oboInOwl:hasDbXref MeSH:D056889 semapv:UnspecifiedMatching -orphanet.ordo:111 Barth syndrome oboInOwl:hasDbXref OMIM:302060 semapv:UnspecifiedMatching -orphanet.ordo:111 Barth syndrome oboInOwl:hasDbXref UMLS:C0574083 semapv:UnspecifiedMatching -orphanet.ordo:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537785 semapv:UnspecifiedMatching -orphanet.ordo:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref MeSH:C537785 semapv:UnspecifiedMatching -orphanet.ordo:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:107500 semapv:UnspecifiedMatching -orphanet.ordo:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1862682 semapv:UnspecifiedMatching -orphanet.ordo:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref MESH:C535881 semapv:UnspecifiedMatching -orphanet.ordo:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref MeSH:C535881 semapv:UnspecifiedMatching -orphanet.ordo:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref OMIM:207620 semapv:UnspecifiedMatching -orphanet.ordo:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1859754 semapv:UnspecifiedMatching -orphanet.ordo:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref OMIM:600384 semapv:UnspecifiedMatching -orphanet.ordo:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1838161 semapv:UnspecifiedMatching -orphanet.ordo:1114 Aplasia cutis congenita oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:1114 Aplasia cutis congenita oboInOwl:hasDbXref MESH:C536840 semapv:UnspecifiedMatching -orphanet.ordo:1114 Aplasia cutis congenita oboInOwl:hasDbXref MeSH:C536840 semapv:UnspecifiedMatching -orphanet.ordo:1114 Aplasia cutis congenita oboInOwl:hasDbXref OMIM:107600 semapv:UnspecifiedMatching -orphanet.ordo:1114 Aplasia cutis congenita oboInOwl:hasDbXref OMIM:600360 semapv:UnspecifiedMatching -orphanet.ordo:1114 Aplasia cutis congenita oboInOwl:hasDbXref UMLS:C0282160 semapv:UnspecifiedMatching -orphanet.ordo:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref MESH:C537788 semapv:UnspecifiedMatching -orphanet.ordo:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref MeSH:C537788 semapv:UnspecifiedMatching -orphanet.ordo:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref OMIM:207731 semapv:UnspecifiedMatching -orphanet.ordo:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref UMLS:C1859753 semapv:UnspecifiedMatching -orphanet.ordo:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref OMIM:601075 semapv:UnspecifiedMatching -orphanet.ordo:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref UMLS:C1832826 semapv:UnspecifiedMatching -orphanet.ordo:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C537930 semapv:UnspecifiedMatching -orphanet.ordo:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref MeSH:C537930 semapv:UnspecifiedMatching -orphanet.ordo:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:113310 semapv:UnspecifiedMatching -orphanet.ordo:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C1862100 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref MESH:D001477 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref MeSH:D001477 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref MedDRA:10050839 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:300971 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching -orphanet.ordo:112 Bartter syndrome oboInOwl:hasDbXref UMLS:C0004775 semapv:UnspecifiedMatching -orphanet.ordo:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref OMIM:601612 semapv:UnspecifiedMatching -orphanet.ordo:1121 Radial deficiency-tibial hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref MESH:C536936 semapv:UnspecifiedMatching -orphanet.ordo:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref MeSH:C536936 semapv:UnspecifiedMatching -orphanet.ordo:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref OMIM:314360 semapv:UnspecifiedMatching -orphanet.ordo:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref UMLS:C1839123 semapv:UnspecifiedMatching -orphanet.ordo:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref UMLS:C2931593 semapv:UnspecifiedMatching -orphanet.ordo:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching -orphanet.ordo:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref MESH:C537423 semapv:UnspecifiedMatching -orphanet.ordo:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref MeSH:C537423 semapv:UnspecifiedMatching -orphanet.ordo:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 semapv:UnspecifiedMatching -orphanet.ordo:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref UMLS:C0543874 semapv:UnspecifiedMatching -orphanet.ordo:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref OMIM:601374 semapv:UnspecifiedMatching -orphanet.ordo:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref UMLS:C1832412 semapv:UnspecifiedMatching -orphanet.ordo:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931398 semapv:UnspecifiedMatching -orphanet.ordo:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref MESH:C537663 semapv:UnspecifiedMatching -orphanet.ordo:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref MeSH:C537663 semapv:UnspecifiedMatching -orphanet.ordo:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref OMIM:301845 semapv:UnspecifiedMatching -orphanet.ordo:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref UMLS:C0346104 semapv:UnspecifiedMatching -orphanet.ordo:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref OMIM:301950 semapv:UnspecifiedMatching -orphanet.ordo:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref UMLS:C1844918 semapv:UnspecifiedMatching -orphanet.ordo:1133 AREDYLD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1133 AREDYLD syndrome oboInOwl:hasDbXref MESH:C537427 semapv:UnspecifiedMatching -orphanet.ordo:1133 AREDYLD syndrome oboInOwl:hasDbXref MeSH:C537427 semapv:UnspecifiedMatching -orphanet.ordo:1133 AREDYLD syndrome oboInOwl:hasDbXref OMIM:207780 semapv:UnspecifiedMatching -orphanet.ordo:1133 AREDYLD syndrome oboInOwl:hasDbXref UMLS:C0342280 semapv:UnspecifiedMatching -orphanet.ordo:1134 Isolated arrhinia oboInOwl:hasDbXref ICD10:Q30.1 semapv:UnspecifiedMatching -orphanet.ordo:1134 Isolated arrhinia oboInOwl:hasDbXref MESH:C537438 semapv:UnspecifiedMatching -orphanet.ordo:1134 Isolated arrhinia oboInOwl:hasDbXref MeSH:C537438 semapv:UnspecifiedMatching -orphanet.ordo:1134 Isolated arrhinia oboInOwl:hasDbXref UMLS:C0265740 semapv:UnspecifiedMatching -orphanet.ordo:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching -orphanet.ordo:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref UMLS:C1863878 semapv:UnspecifiedMatching -orphanet.ordo:114 Auriculoosteodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:114 Auriculoosteodysplasia oboInOwl:hasDbXref MESH:C538271 semapv:UnspecifiedMatching -orphanet.ordo:114 Auriculoosteodysplasia oboInOwl:hasDbXref MeSH:C538271 semapv:UnspecifiedMatching -orphanet.ordo:114 Auriculoosteodysplasia oboInOwl:hasDbXref OMIM:109000 semapv:UnspecifiedMatching -orphanet.ordo:114 Auriculoosteodysplasia oboInOwl:hasDbXref UMLS:C1862381 semapv:UnspecifiedMatching -orphanet.ordo:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching -orphanet.ordo:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching -orphanet.ordo:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref MeSH:C536614 semapv:UnspecifiedMatching -orphanet.ordo:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:208100 semapv:UnspecifiedMatching -orphanet.ordo:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1859721 semapv:UnspecifiedMatching -orphanet.ordo:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref MESH:C535386 semapv:UnspecifiedMatching -orphanet.ordo:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref MeSH:C535386 semapv:UnspecifiedMatching -orphanet.ordo:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:108200 semapv:UnspecifiedMatching -orphanet.ordo:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1862471 semapv:UnspecifiedMatching -orphanet.ordo:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref MESH:C535380 semapv:UnspecifiedMatching -orphanet.ordo:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref MeSH:C535380 semapv:UnspecifiedMatching -orphanet.ordo:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref OMIM:301830 semapv:UnspecifiedMatching -orphanet.ordo:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1844934 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:108120 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:126050 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:614335 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching -orphanet.ordo:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref UMLS:C0220662 semapv:UnspecifiedMatching -orphanet.ordo:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:601680 semapv:UnspecifiedMatching -orphanet.ordo:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching -orphanet.ordo:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching -orphanet.ordo:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref UMLS:C1834523 semapv:UnspecifiedMatching -orphanet.ordo:1149 Kuskokwim syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1149 Kuskokwim syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching -orphanet.ordo:1149 Kuskokwim syndrome oboInOwl:hasDbXref UMLS:C1859709 semapv:UnspecifiedMatching -orphanet.ordo:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref MESH:C536211 semapv:UnspecifiedMatching -orphanet.ordo:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref MeSH:C536211 semapv:UnspecifiedMatching -orphanet.ordo:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref OMIM:121050 semapv:UnspecifiedMatching -orphanet.ordo:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS:C0220668 semapv:UnspecifiedMatching -orphanet.ordo:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref MESH:C538401 semapv:UnspecifiedMatching -orphanet.ordo:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref MeSH:C538401 semapv:UnspecifiedMatching -orphanet.ordo:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref OMIM:208155 semapv:UnspecifiedMatching -orphanet.ordo:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref UMLS:C1859711 semapv:UnspecifiedMatching -orphanet.ordo:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching -orphanet.ordo:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref UMLS:C1862472 semapv:UnspecifiedMatching -orphanet.ordo:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref MESH:C535387 semapv:UnspecifiedMatching -orphanet.ordo:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref MeSH:C535387 semapv:UnspecifiedMatching -orphanet.ordo:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref OMIM:208230 semapv:UnspecifiedMatching -orphanet.ordo:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref UMLS:C0432215 semapv:UnspecifiedMatching -orphanet.ordo:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching -orphanet.ordo:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MeSH:D001506 semapv:UnspecifiedMatching -orphanet.ordo:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MedDRA:10050344 semapv:UnspecifiedMatching -orphanet.ordo:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching -orphanet.ordo:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0004903 semapv:UnspecifiedMatching -orphanet.ordo:1160 Chylous ascites oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching -orphanet.ordo:1160 Chylous ascites oboInOwl:hasDbXref MESH:D002915 semapv:UnspecifiedMatching -orphanet.ordo:1160 Chylous ascites oboInOwl:hasDbXref MeSH:D002915 semapv:UnspecifiedMatching -orphanet.ordo:1160 Chylous ascites oboInOwl:hasDbXref MedDRA:10003446 semapv:UnspecifiedMatching -orphanet.ordo:1160 Chylous ascites oboInOwl:hasDbXref OMIM:208300 semapv:UnspecifiedMatching -orphanet.ordo:1160 Chylous ascites oboInOwl:hasDbXref UMLS:C0008732 semapv:UnspecifiedMatching -orphanet.ordo:1162 NON RARE IN EUROPE: Asperger syndrome oboInOwl:hasDbXref ICD10:F84.5 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.0 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.1 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.2 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.7 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.8 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.9 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref MESH:D001228 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref MeSH:D001228 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref MedDRA:10003488 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref OMIM:614079 semapv:UnspecifiedMatching -orphanet.ordo:1163 Aspergillosis oboInOwl:hasDbXref UMLS:C0004030 semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:B44.1+ semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MeSH:D001229 semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MedDRA:10006474 semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 semapv:UnspecifiedMatching -orphanet.ordo:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS:C0004031 semapv:UnspecifiedMatching -orphanet.ordo:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref MESH:C535349 semapv:UnspecifiedMatching -orphanet.ordo:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref MeSH:C535349 semapv:UnspecifiedMatching -orphanet.ordo:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref UMLS:C0431406 semapv:UnspecifiedMatching -orphanet.ordo:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref OMIM:208920 semapv:UnspecifiedMatching -orphanet.ordo:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref UMLS:C1859598 semapv:UnspecifiedMatching -orphanet.ordo:117 Behçet disease oboInOwl:hasDbXref ICD10:M35.2 semapv:UnspecifiedMatching -orphanet.ordo:117 Behçet disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching -orphanet.ordo:117 Behçet disease oboInOwl:hasDbXref MeSH:D001528 semapv:UnspecifiedMatching -orphanet.ordo:117 Behçet disease oboInOwl:hasDbXref MedDRA:10004213 semapv:UnspecifiedMatching -orphanet.ordo:117 Behçet disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching -orphanet.ordo:117 Behçet disease oboInOwl:hasDbXref UMLS:C0004943 semapv:UnspecifiedMatching -orphanet.ordo:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref OMIM:213200 semapv:UnspecifiedMatching -orphanet.ordo:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref UMLS:C1859298 semapv:UnspecifiedMatching -orphanet.ordo:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref OMIM:601338 semapv:UnspecifiedMatching -orphanet.ordo:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref UMLS:C1832466 semapv:UnspecifiedMatching -orphanet.ordo:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref OMIM:212840 semapv:UnspecifiedMatching -orphanet.ordo:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref OMIM:605672 semapv:UnspecifiedMatching -orphanet.ordo:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1859305 semapv:UnspecifiedMatching -orphanet.ordo:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:C535350 semapv:UnspecifiedMatching -orphanet.ordo:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref MeSH:C535350 semapv:UnspecifiedMatching -orphanet.ordo:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:212835 semapv:UnspecifiedMatching -orphanet.ordo:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1859306 semapv:UnspecifiedMatching -orphanet.ordo:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching -orphanet.ordo:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching -orphanet.ordo:117569 Rare intestinal disease oboInOwl:hasDbXref UMLS:C0021831 semapv:UnspecifiedMatching -orphanet.ordo:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref MESH:C535633 semapv:UnspecifiedMatching -orphanet.ordo:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref MeSH:C535633 semapv:UnspecifiedMatching -orphanet.ordo:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref OMIM:212895 semapv:UnspecifiedMatching -orphanet.ordo:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref UMLS:C0393520 semapv:UnspecifiedMatching -orphanet.ordo:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref OMIM:272600 semapv:UnspecifiedMatching -orphanet.ordo:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref UMLS:C1848932 semapv:UnspecifiedMatching -orphanet.ordo:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching -orphanet.ordo:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref OMIM:168885 semapv:UnspecifiedMatching -orphanet.ordo:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref UMLS:C1868576 semapv:UnspecifiedMatching -orphanet.ordo:118 Beta-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:118 Beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 semapv:UnspecifiedMatching -orphanet.ordo:118 Beta-mannosidosis oboInOwl:hasDbXref MeSH:D044905 semapv:UnspecifiedMatching -orphanet.ordo:118 Beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 semapv:UnspecifiedMatching -orphanet.ordo:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref OMIM:215470 semapv:UnspecifiedMatching -orphanet.ordo:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1859093 semapv:UnspecifiedMatching -orphanet.ordo:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref OMIM:108650 semapv:UnspecifiedMatching -orphanet.ordo:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref UMLS:C1862441 semapv:UnspecifiedMatching -orphanet.ordo:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching -orphanet.ordo:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MESH:D053578 semapv:UnspecifiedMatching -orphanet.ordo:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MeSH:D053578 semapv:UnspecifiedMatching -orphanet.ordo:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MedDRA:10053854 semapv:UnspecifiedMatching -orphanet.ordo:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref UMLS:C0393626 semapv:UnspecifiedMatching -orphanet.ordo:1184 Ataxia-photosensitivity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:271270 semapv:UnspecifiedMatching -orphanet.ordo:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1849088 semapv:UnspecifiedMatching -orphanet.ordo:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref MESH:C535523 semapv:UnspecifiedMatching -orphanet.ordo:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref MeSH:C535523 semapv:UnspecifiedMatching -orphanet.ordo:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching -orphanet.ordo:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1849096 semapv:UnspecifiedMatching -orphanet.ordo:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref MESH:C535388 semapv:UnspecifiedMatching -orphanet.ordo:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref MeSH:C535388 semapv:UnspecifiedMatching -orphanet.ordo:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching -orphanet.ordo:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref UMLS:C0796028 semapv:UnspecifiedMatching -orphanet.ordo:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:208850 semapv:UnspecifiedMatching -orphanet.ordo:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref OMIM:604286 semapv:UnspecifiedMatching -orphanet.ordo:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref UMLS:C1858593 semapv:UnspecifiedMatching -orphanet.ordo:1190 Atelosteogenesis type I oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1190 Atelosteogenesis type I oboInOwl:hasDbXref MESH:C535396 semapv:UnspecifiedMatching -orphanet.ordo:1190 Atelosteogenesis type I oboInOwl:hasDbXref MeSH:C535396 semapv:UnspecifiedMatching -orphanet.ordo:1190 Atelosteogenesis type I oboInOwl:hasDbXref OMIM:108720 semapv:UnspecifiedMatching -orphanet.ordo:1190 Atelosteogenesis type I oboInOwl:hasDbXref UMLS:C0265283 semapv:UnspecifiedMatching -orphanet.ordo:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref ICD10:I70.9 semapv:UnspecifiedMatching -orphanet.ordo:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref OMIM:209010 semapv:UnspecifiedMatching -orphanet.ordo:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref UMLS:C2931125 semapv:UnspecifiedMatching -orphanet.ordo:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref OMIM:300431 semapv:UnspecifiedMatching -orphanet.ordo:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref UMLS:C0796206 semapv:UnspecifiedMatching -orphanet.ordo:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref OMIM:614052 semapv:UnspecifiedMatching -orphanet.ordo:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref UMLS:C3279699 semapv:UnspecifiedMatching -orphanet.ordo:1195 Congenital atransferrinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching -orphanet.ordo:1195 Congenital atransferrinemia oboInOwl:hasDbXref MESH:C538259 semapv:UnspecifiedMatching -orphanet.ordo:1195 Congenital atransferrinemia oboInOwl:hasDbXref MeSH:C538259 semapv:UnspecifiedMatching -orphanet.ordo:1195 Congenital atransferrinemia oboInOwl:hasDbXref OMIM:209300 semapv:UnspecifiedMatching -orphanet.ordo:1195 Congenital atransferrinemia oboInOwl:hasDbXref UMLS:C0521802 semapv:UnspecifiedMatching -orphanet.ordo:1198 Colonic atresia oboInOwl:hasDbXref ICD10:Q42.9 semapv:UnspecifiedMatching -orphanet.ordo:1198 Colonic atresia oboInOwl:hasDbXref OMIM:303650 semapv:UnspecifiedMatching -orphanet.ordo:1198 Colonic atresia oboInOwl:hasDbXref UMLS:C0266190 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.0 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.1 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref MESH:D004933 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref MeSH:D004933 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref MedDRA:10021530 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref MedDRA:10030146 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref OMIM:189960 semapv:UnspecifiedMatching -orphanet.ordo:1199 Esophageal atresia oboInOwl:hasDbXref UMLS:C0014850 semapv:UnspecifiedMatching -orphanet.ordo:120 NON RARE IN EUROPE: Pernicious anemia oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching -orphanet.ordo:1200 Burn-McKeown syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1200 Burn-McKeown syndrome oboInOwl:hasDbXref MESH:C537411 semapv:UnspecifiedMatching -orphanet.ordo:1200 Burn-McKeown syndrome oboInOwl:hasDbXref MeSH:C537411 semapv:UnspecifiedMatching -orphanet.ordo:1200 Burn-McKeown syndrome oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching -orphanet.ordo:1200 Burn-McKeown syndrome oboInOwl:hasDbXref OMIM:616462 semapv:UnspecifiedMatching -orphanet.ordo:1200 Burn-McKeown syndrome oboInOwl:hasDbXref UMLS:C1837822 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.1 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.2 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.8 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.9 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref MESH:C538260 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref MeSH:C538260 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref MedDRA:10010626 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref OMIM:243600 semapv:UnspecifiedMatching -orphanet.ordo:1201 Small bowel atresia oboInOwl:hasDbXref UMLS:C0266172 semapv:UnspecifiedMatching -orphanet.ordo:1202 Larynx atresia oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching -orphanet.ordo:1202 Larynx atresia oboInOwl:hasDbXref OMIM:150300 semapv:UnspecifiedMatching -orphanet.ordo:1202 Larynx atresia oboInOwl:hasDbXref UMLS:C0265756 semapv:UnspecifiedMatching -orphanet.ordo:1203 Duodenal atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching -orphanet.ordo:1203 Duodenal atresia oboInOwl:hasDbXref MESH:C535720 semapv:UnspecifiedMatching -orphanet.ordo:1203 Duodenal atresia oboInOwl:hasDbXref MeSH:C535720 semapv:UnspecifiedMatching -orphanet.ordo:1203 Duodenal atresia oboInOwl:hasDbXref MedDRA:10013812 semapv:UnspecifiedMatching -orphanet.ordo:1203 Duodenal atresia oboInOwl:hasDbXref OMIM:223400 semapv:UnspecifiedMatching -orphanet.ordo:1203 Duodenal atresia oboInOwl:hasDbXref UMLS:C0266174 semapv:UnspecifiedMatching -orphanet.ordo:1205 Mitral atresia oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching -orphanet.ordo:1205 Mitral atresia oboInOwl:hasDbXref UMLS:C0344760 semapv:UnspecifiedMatching -orphanet.ordo:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref ICD10:Q25.5 semapv:UnspecifiedMatching -orphanet.ordo:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref OMIM:178370 semapv:UnspecifiedMatching -orphanet.ordo:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref UMLS:C0344976 semapv:UnspecifiedMatching -orphanet.ordo:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching -orphanet.ordo:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref OMIM:265150 semapv:UnspecifiedMatching -orphanet.ordo:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref UMLS:C0344975 semapv:UnspecifiedMatching -orphanet.ordo:1209 Tricuspid atresia oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching -orphanet.ordo:1209 Tricuspid atresia oboInOwl:hasDbXref MESH:D018785 semapv:UnspecifiedMatching -orphanet.ordo:1209 Tricuspid atresia oboInOwl:hasDbXref MeSH:D018785 semapv:UnspecifiedMatching -orphanet.ordo:1209 Tricuspid atresia oboInOwl:hasDbXref MedDRA:10049767 semapv:UnspecifiedMatching -orphanet.ordo:1209 Tricuspid atresia oboInOwl:hasDbXref OMIM:605067 semapv:UnspecifiedMatching -orphanet.ordo:1209 Tricuspid atresia oboInOwl:hasDbXref UMLS:C0243002 semapv:UnspecifiedMatching -orphanet.ordo:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref ICD10:G51.8 semapv:UnspecifiedMatching -orphanet.ordo:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref OMIM:141300 semapv:UnspecifiedMatching -orphanet.ordo:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref UMLS:C0015458 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref MESH:C535351 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref MeSH:C535351 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:165199 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:616648 semapv:UnspecifiedMatching -orphanet.ordo:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS:C1832466 semapv:UnspecifiedMatching -orphanet.ordo:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref OMIM:600175 semapv:UnspecifiedMatching -orphanet.ordo:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref UMLS:C2930956 semapv:UnspecifiedMatching -orphanet.ordo:1219 Aurocephalosyndactyly oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching -orphanet.ordo:1219 Aurocephalosyndactyly oboInOwl:hasDbXref MeSH:D000168 semapv:UnspecifiedMatching -orphanet.ordo:1219 Aurocephalosyndactyly oboInOwl:hasDbXref MedDRA:10000590 semapv:UnspecifiedMatching -orphanet.ordo:1219 Aurocephalosyndactyly oboInOwl:hasDbXref OMIM:109050 semapv:UnspecifiedMatching -orphanet.ordo:1219 Aurocephalosyndactyly oboInOwl:hasDbXref UMLS:C1862380 semapv:UnspecifiedMatching -orphanet.ordo:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref ICD10:C44.9 semapv:UnspecifiedMatching -orphanet.ordo:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MESH:D058249 semapv:UnspecifiedMatching -orphanet.ordo:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MeSH:D058249 semapv:UnspecifiedMatching -orphanet.ordo:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MedDRA:10067736 semapv:UnspecifiedMatching -orphanet.ordo:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref OMIM:135150 semapv:UnspecifiedMatching -orphanet.ordo:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref UMLS:C0346010 semapv:UnspecifiedMatching -orphanet.ordo:1221 Cheilitis glandularis oboInOwl:hasDbXref ICD10:K13.0 semapv:UnspecifiedMatching -orphanet.ordo:1221 Cheilitis glandularis oboInOwl:hasDbXref MESH:C535921 semapv:UnspecifiedMatching -orphanet.ordo:1221 Cheilitis glandularis oboInOwl:hasDbXref MeSH:C535921 semapv:UnspecifiedMatching -orphanet.ordo:1221 Cheilitis glandularis oboInOwl:hasDbXref OMIM:118330 semapv:UnspecifiedMatching -orphanet.ordo:1221 Cheilitis glandularis oboInOwl:hasDbXref UMLS:C0267034 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref ICD10:A07.0 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref MESH:C531629 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref MESH:D001447 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref MeSH:C531629 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref MeSH:D001447 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref MedDRA:10004080 semapv:UnspecifiedMatching -orphanet.ordo:1223 Balantidiasis oboInOwl:hasDbXref UMLS:C0004692 semapv:UnspecifiedMatching -orphanet.ordo:1225 Baller-Gerold syndrome oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:1225 Baller-Gerold syndrome oboInOwl:hasDbXref MESH:C536788 semapv:UnspecifiedMatching -orphanet.ordo:1225 Baller-Gerold syndrome oboInOwl:hasDbXref MeSH:C536788 semapv:UnspecifiedMatching -orphanet.ordo:1225 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching -orphanet.ordo:1225 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS:C0265308 semapv:UnspecifiedMatching -orphanet.ordo:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref MESH:C537901 semapv:UnspecifiedMatching -orphanet.ordo:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref MeSH:C537901 semapv:UnspecifiedMatching -orphanet.ordo:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref OMIM:241850 semapv:UnspecifiedMatching -orphanet.ordo:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref UMLS:C1855794 semapv:UnspecifiedMatching -orphanet.ordo:1227 Bangstad syndrome oboInOwl:hasDbXref ICD10:E31.8 semapv:UnspecifiedMatching -orphanet.ordo:1227 Bangstad syndrome oboInOwl:hasDbXref MESH:C537902 semapv:UnspecifiedMatching -orphanet.ordo:1227 Bangstad syndrome oboInOwl:hasDbXref MeSH:C537902 semapv:UnspecifiedMatching -orphanet.ordo:1227 Bangstad syndrome oboInOwl:hasDbXref OMIM:210740 semapv:UnspecifiedMatching -orphanet.ordo:1227 Bangstad syndrome oboInOwl:hasDbXref UMLS:C0342284 semapv:UnspecifiedMatching -orphanet.ordo:1228 Banki syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -orphanet.ordo:1228 Banki syndrome oboInOwl:hasDbXref OMIM:109300 semapv:UnspecifiedMatching -orphanet.ordo:1228 Banki syndrome oboInOwl:hasDbXref UMLS:C1862319 semapv:UnspecifiedMatching -orphanet.ordo:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref OMIM:251290 semapv:UnspecifiedMatching -orphanet.ordo:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref UMLS:C2931662 semapv:UnspecifiedMatching -orphanet.ordo:123 Björnstad syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:123 Björnstad syndrome oboInOwl:hasDbXref MESH:C537633 semapv:UnspecifiedMatching -orphanet.ordo:123 Björnstad syndrome oboInOwl:hasDbXref MeSH:C537633 semapv:UnspecifiedMatching -orphanet.ordo:123 Björnstad syndrome oboInOwl:hasDbXref OMIM:262000 semapv:UnspecifiedMatching -orphanet.ordo:123 Björnstad syndrome oboInOwl:hasDbXref UMLS:C0266006 semapv:UnspecifiedMatching -orphanet.ordo:1231 Barber-Say syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1231 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching -orphanet.ordo:1231 Barber-Say syndrome oboInOwl:hasDbXref MeSH:C537908 semapv:UnspecifiedMatching -orphanet.ordo:1231 Barber-Say syndrome oboInOwl:hasDbXref OMIM:209885 semapv:UnspecifiedMatching -orphanet.ordo:1231 Barber-Say syndrome oboInOwl:hasDbXref UMLS:C1319466 semapv:UnspecifiedMatching -orphanet.ordo:1232 NON RARE IN EUROPE: Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching -orphanet.ordo:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref OMIM:263650 semapv:UnspecifiedMatching -orphanet.ordo:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref OMIM:619339 semapv:UnspecifiedMatching -orphanet.ordo:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref UMLS:C1849718 semapv:UnspecifiedMatching -orphanet.ordo:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref MESH:C537668 semapv:UnspecifiedMatching -orphanet.ordo:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref MeSH:C537668 semapv:UnspecifiedMatching -orphanet.ordo:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref OMIM:209970 semapv:UnspecifiedMatching -orphanet.ordo:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref UMLS:C1859526 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref MESH:D029503 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref MeSH:D029503 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref MedDRA:10062989 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:105650 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:300946 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:606129 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:606164 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:610629 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612527 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612528 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612561 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612562 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612563 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:613308 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:613309 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:614900 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:615550 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:615909 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:617408 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:617409 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618310 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618312 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618313 semapv:UnspecifiedMatching -orphanet.ordo:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:620072 semapv:UnspecifiedMatching -orphanet.ordo:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref MESH:C537350 semapv:UnspecifiedMatching -orphanet.ordo:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref MeSH:C537350 semapv:UnspecifiedMatching -orphanet.ordo:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref OMIM:250215 semapv:UnspecifiedMatching -orphanet.ordo:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref UMLS:C1855243 semapv:UnspecifiedMatching -orphanet.ordo:1241 Bencze syndrome oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching -orphanet.ordo:1241 Bencze syndrome oboInOwl:hasDbXref OMIM:141350 semapv:UnspecifiedMatching -orphanet.ordo:1241 Bencze syndrome oboInOwl:hasDbXref UMLS:C1841640 semapv:UnspecifiedMatching -orphanet.ordo:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching -orphanet.ordo:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref UMLS:C0339510 semapv:UnspecifiedMatching -orphanet.ordo:1244 NON RARE IN EUROPE: Bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching -orphanet.ordo:1245 BIDS syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching -orphanet.ordo:1245 BIDS syndrome oboInOwl:hasDbXref UMLS:C3495483 semapv:UnspecifiedMatching -orphanet.ordo:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:113400 semapv:UnspecifiedMatching -orphanet.ordo:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref UMLS:C1862099 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.0 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.1 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.2 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.3 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.8 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.9 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref MESH:D012552 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref MeSH:D012552 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref MedDRA:10039603 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching -orphanet.ordo:1247 Schistosomiasis oboInOwl:hasDbXref UMLS:C0036323 semapv:UnspecifiedMatching -orphanet.ordo:1248 Maxillonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:1248 Maxillonasal dysplasia oboInOwl:hasDbXref OMIM:155050 semapv:UnspecifiedMatching -orphanet.ordo:1248 Maxillonasal dysplasia oboInOwl:hasDbXref UMLS:C0220692 semapv:UnspecifiedMatching -orphanet.ordo:125 Bloom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:125 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 semapv:UnspecifiedMatching -orphanet.ordo:125 Bloom syndrome oboInOwl:hasDbXref MeSH:D001816 semapv:UnspecifiedMatching -orphanet.ordo:125 Bloom syndrome oboInOwl:hasDbXref OMIM:210900 semapv:UnspecifiedMatching -orphanet.ordo:125 Bloom syndrome oboInOwl:hasDbXref UMLS:C0005859 semapv:UnspecifiedMatching -orphanet.ordo:1251 Blepharofacioskeletal syndrome oboInOwl:hasDbXref UMLS:C1834038 semapv:UnspecifiedMatching -orphanet.ordo:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref OMIM:110050 semapv:UnspecifiedMatching -orphanet.ordo:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref UMLS:C0796197 semapv:UnspecifiedMatching -orphanet.ordo:1253 Ascher syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1253 Ascher syndrome oboInOwl:hasDbXref OMIM:109900 semapv:UnspecifiedMatching -orphanet.ordo:1253 Ascher syndrome oboInOwl:hasDbXref UMLS:C0339085 semapv:UnspecifiedMatching -orphanet.ordo:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref MESH:C536236 semapv:UnspecifiedMatching -orphanet.ordo:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref MeSH:C536236 semapv:UnspecifiedMatching -orphanet.ordo:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref OMIM:110150 semapv:UnspecifiedMatching -orphanet.ordo:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref UMLS:C1862259 semapv:UnspecifiedMatching -orphanet.ordo:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching -orphanet.ordo:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref UMLS:C0220663 semapv:UnspecifiedMatching -orphanet.ordo:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref OMIM:225755 semapv:UnspecifiedMatching -orphanet.ordo:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref UMLS:C1856973 semapv:UnspecifiedMatching -orphanet.ordo:1262 Böök syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1262 Böök syndrome oboInOwl:hasDbXref OMIM:112300 semapv:UnspecifiedMatching -orphanet.ordo:1262 Böök syndrome oboInOwl:hasDbXref UMLS:C0457014 semapv:UnspecifiedMatching -orphanet.ordo:1263 Boomerang dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1263 Boomerang dysplasia oboInOwl:hasDbXref MESH:C536573 semapv:UnspecifiedMatching -orphanet.ordo:1263 Boomerang dysplasia oboInOwl:hasDbXref MeSH:C536573 semapv:UnspecifiedMatching -orphanet.ordo:1263 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 semapv:UnspecifiedMatching -orphanet.ordo:1263 Boomerang dysplasia oboInOwl:hasDbXref UMLS:C0432201 semapv:UnspecifiedMatching -orphanet.ordo:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref OMIM:191482 semapv:UnspecifiedMatching -orphanet.ordo:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref UMLS:C1860605 semapv:UnspecifiedMatching -orphanet.ordo:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching -orphanet.ordo:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:1267 Botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching -orphanet.ordo:1267 Botulism oboInOwl:hasDbXref MeSH:D001906 semapv:UnspecifiedMatching -orphanet.ordo:1267 Botulism oboInOwl:hasDbXref MedDRA:10006041 semapv:UnspecifiedMatching -orphanet.ordo:1267 Botulism oboInOwl:hasDbXref UMLS:C0006057 semapv:UnspecifiedMatching -orphanet.ordo:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MESH:C536575 semapv:UnspecifiedMatching -orphanet.ordo:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MeSH:C536575 semapv:UnspecifiedMatching -orphanet.ordo:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref OMIM:301900 semapv:UnspecifiedMatching -orphanet.ordo:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref UMLS:C0265339 semapv:UnspecifiedMatching -orphanet.ordo:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref MESH:C537081 semapv:UnspecifiedMatching -orphanet.ordo:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref MeSH:C537081 semapv:UnspecifiedMatching -orphanet.ordo:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref OMIM:211180 semapv:UnspecifiedMatching -orphanet.ordo:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref UMLS:C1859405 semapv:UnspecifiedMatching -orphanet.ordo:1271 Bowen syndrome oboInOwl:hasDbXref OMIM:211200 semapv:UnspecifiedMatching -orphanet.ordo:1271 Bowen syndrome oboInOwl:hasDbXref UMLS:C1859404 semapv:UnspecifiedMatching -orphanet.ordo:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref MESH:C537933 semapv:UnspecifiedMatching -orphanet.ordo:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref MeSH:C537933 semapv:UnspecifiedMatching -orphanet.ordo:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:UnspecifiedMatching -orphanet.ordo:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601353 semapv:UnspecifiedMatching -orphanet.ordo:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref UMLS:C0795941 semapv:UnspecifiedMatching -orphanet.ordo:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref OMIM:186550 semapv:UnspecifiedMatching -orphanet.ordo:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref OMIM:112410 semapv:UnspecifiedMatching -orphanet.ordo:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref UMLS:C1862170 semapv:UnspecifiedMatching -orphanet.ordo:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref OMIM:112450 semapv:UnspecifiedMatching -orphanet.ordo:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref UMLS:C1862162 semapv:UnspecifiedMatching -orphanet.ordo:128 Diphyllobothriasis oboInOwl:hasDbXref ICD10:B70.0 semapv:UnspecifiedMatching -orphanet.ordo:128 Diphyllobothriasis oboInOwl:hasDbXref MedDRA:10013029 semapv:UnspecifiedMatching -orphanet.ordo:128 Diphyllobothriasis oboInOwl:hasDbXref UMLS:C0012561 semapv:UnspecifiedMatching -orphanet.ordo:129 Pseudopelade of Brocq oboInOwl:hasDbXref ICD10:L66.0 semapv:UnspecifiedMatching -orphanet.ordo:129 Pseudopelade of Brocq oboInOwl:hasDbXref MESH:C531609 semapv:UnspecifiedMatching -orphanet.ordo:129 Pseudopelade of Brocq oboInOwl:hasDbXref MeSH:C531609 semapv:UnspecifiedMatching -orphanet.ordo:129 Pseudopelade of Brocq oboInOwl:hasDbXref UMLS:C0086873 semapv:UnspecifiedMatching -orphanet.ordo:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref MESH:C536242 semapv:UnspecifiedMatching -orphanet.ordo:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref MeSH:C536242 semapv:UnspecifiedMatching -orphanet.ordo:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref OMIM:113477 semapv:UnspecifiedMatching -orphanet.ordo:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref UMLS:C1862082 semapv:UnspecifiedMatching -orphanet.ordo:1293 Brachyolmia oboInOwl:hasDbXref MESH:C537098 semapv:UnspecifiedMatching -orphanet.ordo:1293 Brachyolmia oboInOwl:hasDbXref MeSH:C537098 semapv:UnspecifiedMatching -orphanet.ordo:1293 Brachyolmia oboInOwl:hasDbXref UMLS:C0432228 semapv:UnspecifiedMatching -orphanet.ordo:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref OMIM:113480 semapv:UnspecifiedMatching -orphanet.ordo:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref UMLS:C2931421 semapv:UnspecifiedMatching -orphanet.ordo:1296 Lambert syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1296 Lambert syndrome oboInOwl:hasDbXref MESH:C538396 semapv:UnspecifiedMatching -orphanet.ordo:1296 Lambert syndrome oboInOwl:hasDbXref MeSH:C538396 semapv:UnspecifiedMatching -orphanet.ordo:1296 Lambert syndrome oboInOwl:hasDbXref OMIM:245550 semapv:UnspecifiedMatching -orphanet.ordo:1296 Lambert syndrome oboInOwl:hasDbXref UMLS:C1855551 semapv:UnspecifiedMatching -orphanet.ordo:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref OMIM:113620 semapv:UnspecifiedMatching -orphanet.ordo:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref UMLS:C0376524 semapv:UnspecifiedMatching -orphanet.ordo:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching -orphanet.ordo:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref UMLS:C1859384 semapv:UnspecifiedMatching -orphanet.ordo:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref MESH:C535325 semapv:UnspecifiedMatching -orphanet.ordo:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref MeSH:C535325 semapv:UnspecifiedMatching -orphanet.ordo:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref OMIM:261640 semapv:UnspecifiedMatching -orphanet.ordo:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref UMLS:C0878676 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref MESH:D053840 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref MeSH:D053840 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref MedDRA:10059027 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:601144 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611777 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611875 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611876 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613119 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613123 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref OMIM:616399 semapv:UnspecifiedMatching -orphanet.ordo:130 Brugada syndrome oboInOwl:hasDbXref UMLS:C1142166 semapv:UnspecifiedMatching -orphanet.ordo:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:119500 semapv:UnspecifiedMatching -orphanet.ordo:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MESH:D018549 semapv:UnspecifiedMatching -orphanet.ordo:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MeSH:D018549 semapv:UnspecifiedMatching -orphanet.ordo:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref UMLS:C0242770 semapv:UnspecifiedMatching -orphanet.ordo:1303 Bronchiolitis obliterans with obstructive pulmonary disease oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.0 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.1 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.2 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.3 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.8 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.9 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref MESH:D002006 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref MeSH:D002006 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref MedDRA:10006500 semapv:UnspecifiedMatching -orphanet.ordo:1304 Brucellosis oboInOwl:hasDbXref UMLS:C0006309 semapv:UnspecifiedMatching -orphanet.ordo:1305 Feingold syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching -orphanet.ordo:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching -orphanet.ordo:1305 Feingold syndrome oboInOwl:hasDbXref UMLS:C0796068 semapv:UnspecifiedMatching -orphanet.ordo:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching -orphanet.ordo:1308 C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1308 C syndrome oboInOwl:hasDbXref OMIM:211750 semapv:UnspecifiedMatching -orphanet.ordo:1308 C syndrome oboInOwl:hasDbXref UMLS:C0796095 semapv:UnspecifiedMatching -orphanet.ordo:1309 Medullary sponge kidney oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:1309 Medullary sponge kidney oboInOwl:hasDbXref MESH:D007691 semapv:UnspecifiedMatching -orphanet.ordo:1309 Medullary sponge kidney oboInOwl:hasDbXref MeSH:D007691 semapv:UnspecifiedMatching -orphanet.ordo:1309 Medullary sponge kidney oboInOwl:hasDbXref MedDRA:10027104 semapv:UnspecifiedMatching -orphanet.ordo:1309 Medullary sponge kidney oboInOwl:hasDbXref UMLS:C0022681 semapv:UnspecifiedMatching -orphanet.ordo:131 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10:I82.0 semapv:UnspecifiedMatching -orphanet.ordo:131 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 semapv:UnspecifiedMatching -orphanet.ordo:131 Budd-Chiari syndrome oboInOwl:hasDbXref MeSH:D006502 semapv:UnspecifiedMatching -orphanet.ordo:131 Budd-Chiari syndrome oboInOwl:hasDbXref MedDRA:10006537 semapv:UnspecifiedMatching -orphanet.ordo:131 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching -orphanet.ordo:131 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0856761 semapv:UnspecifiedMatching -orphanet.ordo:1310 Caffey disease oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching -orphanet.ordo:1310 Caffey disease oboInOwl:hasDbXref OMIM:114000 semapv:UnspecifiedMatching -orphanet.ordo:1310 Caffey disease oboInOwl:hasDbXref UMLS:C0020497 semapv:UnspecifiedMatching -orphanet.ordo:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref OMIM:215480 semapv:UnspecifiedMatching -orphanet.ordo:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref UMLS:C1859092 semapv:UnspecifiedMatching -orphanet.ordo:1314 Symmetrical thalamic calcifications oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:1317 CAMFAK syndrome oboInOwl:hasDbXref OMIM:212540 semapv:UnspecifiedMatching -orphanet.ordo:1317 CAMFAK syndrome oboInOwl:hasDbXref UMLS:C1859312 semapv:UnspecifiedMatching -orphanet.ordo:1318 Campomelia, Cumming type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1318 Campomelia, Cumming type oboInOwl:hasDbXref MESH:C537966 semapv:UnspecifiedMatching -orphanet.ordo:1318 Campomelia, Cumming type oboInOwl:hasDbXref MeSH:C537966 semapv:UnspecifiedMatching -orphanet.ordo:1318 Campomelia, Cumming type oboInOwl:hasDbXref OMIM:211890 semapv:UnspecifiedMatching -orphanet.ordo:1318 Campomelia, Cumming type oboInOwl:hasDbXref UMLS:C1859371 semapv:UnspecifiedMatching -orphanet.ordo:1319 Camptobrachydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:1319 Camptobrachydactyly oboInOwl:hasDbXref MESH:C537967 semapv:UnspecifiedMatching -orphanet.ordo:1319 Camptobrachydactyly oboInOwl:hasDbXref MeSH:C537967 semapv:UnspecifiedMatching -orphanet.ordo:1319 Camptobrachydactyly oboInOwl:hasDbXref OMIM:114150 semapv:UnspecifiedMatching -orphanet.ordo:1319 Camptobrachydactyly oboInOwl:hasDbXref UMLS:C1861963 semapv:UnspecifiedMatching -orphanet.ordo:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref MESH:C537417 semapv:UnspecifiedMatching -orphanet.ordo:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref MeSH:C537417 semapv:UnspecifiedMatching -orphanet.ordo:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref OMIM:617936 semapv:UnspecifiedMatching -orphanet.ordo:132 Butyrylcholinesterase deficiency oboInOwl:hasDbXref UMLS:C1283400 semapv:UnspecifiedMatching -orphanet.ordo:1320 Idiopathic camptocormia oboInOwl:hasDbXref ICD10:M43.8 semapv:UnspecifiedMatching -orphanet.ordo:1320 Idiopathic camptocormia oboInOwl:hasDbXref MESH:C537968 semapv:UnspecifiedMatching -orphanet.ordo:1320 Idiopathic camptocormia oboInOwl:hasDbXref MeSH:C537968 semapv:UnspecifiedMatching -orphanet.ordo:1320 Idiopathic camptocormia oboInOwl:hasDbXref MedDRA:10069646 semapv:UnspecifiedMatching -orphanet.ordo:1320 Idiopathic camptocormia oboInOwl:hasDbXref UMLS:C0264162 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C537287 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C537974 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MeSH:C537287 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MeSH:C537974 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:211930 semapv:UnspecifiedMatching -orphanet.ordo:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1859357 semapv:UnspecifiedMatching -orphanet.ordo:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref OMIM:602612 semapv:UnspecifiedMatching -orphanet.ordo:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref UMLS:C2931051 semapv:UnspecifiedMatching -orphanet.ordo:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -orphanet.ordo:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref MESH:C537972 semapv:UnspecifiedMatching -orphanet.ordo:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref MeSH:C537972 semapv:UnspecifiedMatching -orphanet.ordo:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref UMLS:C2931681 semapv:UnspecifiedMatching -orphanet.ordo:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref MESH:C537971 semapv:UnspecifiedMatching -orphanet.ordo:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref MeSH:C537971 semapv:UnspecifiedMatching -orphanet.ordo:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref OMIM:211920 semapv:UnspecifiedMatching -orphanet.ordo:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref UMLS:C2931680 semapv:UnspecifiedMatching -orphanet.ordo:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref MESH:C537970 semapv:UnspecifiedMatching -orphanet.ordo:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref MeSH:C537970 semapv:UnspecifiedMatching -orphanet.ordo:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref OMIM:211910 semapv:UnspecifiedMatching -orphanet.ordo:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref UMLS:C1859359 semapv:UnspecifiedMatching -orphanet.ordo:1328 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10:Q78.3 semapv:UnspecifiedMatching -orphanet.ordo:1328 Camurati-Engelmann disease oboInOwl:hasDbXref MESH:D003966 semapv:UnspecifiedMatching -orphanet.ordo:1328 Camurati-Engelmann disease oboInOwl:hasDbXref MeSH:D003966 semapv:UnspecifiedMatching -orphanet.ordo:1328 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching -orphanet.ordo:1328 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS:C0011989 semapv:UnspecifiedMatching -orphanet.ordo:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0344787 semapv:UnspecifiedMatching -orphanet.ordo:133 Chronic beryllium disease oboInOwl:hasDbXref ICD10:J63.2 semapv:UnspecifiedMatching -orphanet.ordo:133 Chronic beryllium disease oboInOwl:hasDbXref MESH:D001607 semapv:UnspecifiedMatching -orphanet.ordo:133 Chronic beryllium disease oboInOwl:hasDbXref MeSH:D001607 semapv:UnspecifiedMatching -orphanet.ordo:133 Chronic beryllium disease oboInOwl:hasDbXref MedDRA:10004485 semapv:UnspecifiedMatching -orphanet.ordo:133 Chronic beryllium disease oboInOwl:hasDbXref UMLS:C0221052 semapv:UnspecifiedMatching -orphanet.ordo:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref MESH:C536112 semapv:UnspecifiedMatching -orphanet.ordo:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref MeSH:C536112 semapv:UnspecifiedMatching -orphanet.ordo:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0344735 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref MESH:C537243 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref MeSH:C537243 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:176807 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:300147 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:300704 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:601518 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:602759 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:603688 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:608656 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:608658 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:609299 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:609558 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:610321 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:610997 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611100 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611868 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611928 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611955 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611958 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:614731 semapv:UnspecifiedMatching -orphanet.ordo:1331 Familial prostate cancer oboInOwl:hasDbXref UMLS:C2931456 semapv:UnspecifiedMatching -orphanet.ordo:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching -orphanet.ordo:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching -orphanet.ordo:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MeSH:C536914 semapv:UnspecifiedMatching -orphanet.ordo:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MedDRA:10027101 semapv:UnspecifiedMatching -orphanet.ordo:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238462 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref ICD10:C25 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref MESH:C535837 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref MeSH:C535837 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:606856 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:613347 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:613348 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:614320 semapv:UnspecifiedMatching -orphanet.ordo:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref UMLS:C2931038 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref ICD10:B37.2 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MeSH:D002178 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MedDRA:10009007 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:114580 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:247650 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:252250 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:607644 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613108 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613953 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613956 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 semapv:UnspecifiedMatching -orphanet.ordo:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS:C0006845 semapv:UnspecifiedMatching -orphanet.ordo:1335 Pentalogy of Cantrell oboInOwl:hasDbXref ICD10:Q89.7 semapv:UnspecifiedMatching -orphanet.ordo:1335 Pentalogy of Cantrell oboInOwl:hasDbXref MESH:D058502 semapv:UnspecifiedMatching -orphanet.ordo:1335 Pentalogy of Cantrell oboInOwl:hasDbXref MeSH:D058502 semapv:UnspecifiedMatching -orphanet.ordo:1335 Pentalogy of Cantrell oboInOwl:hasDbXref OMIM:313850 semapv:UnspecifiedMatching -orphanet.ordo:1335 Pentalogy of Cantrell oboInOwl:hasDbXref UMLS:C0559483 semapv:UnspecifiedMatching -orphanet.ordo:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:144190 semapv:UnspecifiedMatching -orphanet.ordo:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref UMLS:C1840428 semapv:UnspecifiedMatching -orphanet.ordo:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C535849 semapv:UnspecifiedMatching -orphanet.ordo:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref MeSH:C535849 semapv:UnspecifiedMatching -orphanet.ordo:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:217085 semapv:UnspecifiedMatching -orphanet.ordo:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C2931046 semapv:UnspecifiedMatching -orphanet.ordo:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref OMIM:203750 semapv:UnspecifiedMatching -orphanet.ordo:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS:C1536500 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref MESH:C535579 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref MeSH:C535579 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:115150 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615278 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615279 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615280 semapv:UnspecifiedMatching -orphanet.ordo:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref UMLS:C1275081 semapv:UnspecifiedMatching -orphanet.ordo:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref OMIM:140450 semapv:UnspecifiedMatching -orphanet.ordo:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref UMLS:C1841657 semapv:UnspecifiedMatching -orphanet.ordo:1344 Atrial standstill oboInOwl:hasDbXref ICD10:I45.5 semapv:UnspecifiedMatching -orphanet.ordo:1344 Atrial standstill oboInOwl:hasDbXref OMIM:108770 semapv:UnspecifiedMatching -orphanet.ordo:1344 Atrial standstill oboInOwl:hasDbXref OMIM:615745 semapv:UnspecifiedMatching -orphanet.ordo:1344 Atrial standstill oboInOwl:hasDbXref UMLS:C0541782 semapv:UnspecifiedMatching -orphanet.ordo:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref UMLS:C2931548 semapv:UnspecifiedMatching -orphanet.ordo:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:135 CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:135 CACH syndrome oboInOwl:hasDbXref MESH:C537420 semapv:UnspecifiedMatching -orphanet.ordo:135 CACH syndrome oboInOwl:hasDbXref MeSH:C537420 semapv:UnspecifiedMatching -orphanet.ordo:135 CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -orphanet.ordo:135 CACH syndrome oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching -orphanet.ordo:135 CACH syndrome oboInOwl:hasDbXref UMLS:C1858991 semapv:UnspecifiedMatching -orphanet.ordo:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref UMLS:C2931323 semapv:UnspecifiedMatching -orphanet.ordo:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref OMIM:600123 semapv:UnspecifiedMatching -orphanet.ordo:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref UMLS:C1838606 semapv:UnspecifiedMatching -orphanet.ordo:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref MESH:C535850 semapv:UnspecifiedMatching -orphanet.ordo:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref MeSH:C535850 semapv:UnspecifiedMatching -orphanet.ordo:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref OMIM:212135 semapv:UnspecifiedMatching -orphanet.ordo:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref UMLS:C1859327 semapv:UnspecifiedMatching -orphanet.ordo:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref OMIM:270460 semapv:UnspecifiedMatching -orphanet.ordo:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref UMLS:C0796162 semapv:UnspecifiedMatching -orphanet.ordo:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref OMIM:254940 semapv:UnspecifiedMatching -orphanet.ordo:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref OMIM:619941 semapv:UnspecifiedMatching -orphanet.ordo:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref UMLS:C1850746 semapv:UnspecifiedMatching -orphanet.ordo:1359 Carney complex oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:1359 Carney complex oboInOwl:hasDbXref MESH:D056733 semapv:UnspecifiedMatching -orphanet.ordo:1359 Carney complex oboInOwl:hasDbXref MeSH:D056733 semapv:UnspecifiedMatching -orphanet.ordo:1359 Carney complex oboInOwl:hasDbXref OMIM:160980 semapv:UnspecifiedMatching -orphanet.ordo:1359 Carney complex oboInOwl:hasDbXref OMIM:605244 semapv:UnspecifiedMatching -orphanet.ordo:1359 Carney complex oboInOwl:hasDbXref UMLS:C0406810 semapv:UnspecifiedMatching -orphanet.ordo:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching -orphanet.ordo:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MeSH:D046589 semapv:UnspecifiedMatching -orphanet.ordo:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MedDRA:10065551 semapv:UnspecifiedMatching -orphanet.ordo:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:125310 semapv:UnspecifiedMatching -orphanet.ordo:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C0751587 semapv:UnspecifiedMatching -orphanet.ordo:1361 Carnosinase deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:1361 Carnosinase deficiency oboInOwl:hasDbXref OMIM:212200 semapv:UnspecifiedMatching -orphanet.ordo:1361 Carnosinase deficiency oboInOwl:hasDbXref UMLS:C3495554 semapv:UnspecifiedMatching -orphanet.ordo:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching -orphanet.ordo:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref MESH:C535336 semapv:UnspecifiedMatching -orphanet.ordo:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref MeSH:C535336 semapv:UnspecifiedMatching -orphanet.ordo:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:212360 semapv:UnspecifiedMatching -orphanet.ordo:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C1859316 semapv:UnspecifiedMatching -orphanet.ordo:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref MESH:C538283 semapv:UnspecifiedMatching -orphanet.ordo:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref MeSH:C538283 semapv:UnspecifiedMatching -orphanet.ordo:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:212710 semapv:UnspecifiedMatching -orphanet.ordo:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C0796123 semapv:UnspecifiedMatching -orphanet.ordo:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref MESH:C538280 semapv:UnspecifiedMatching -orphanet.ordo:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref MeSH:C538280 semapv:UnspecifiedMatching -orphanet.ordo:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:212350 semapv:UnspecifiedMatching -orphanet.ordo:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:615418 semapv:UnspecifiedMatching -orphanet.ordo:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref UMLS:C1859317 semapv:UnspecifiedMatching -orphanet.ordo:137 Congenital disorder of glycosylation oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:137 Congenital disorder of glycosylation oboInOwl:hasDbXref UMLS:C0282577 semapv:UnspecifiedMatching -orphanet.ordo:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref OMIM:115645 semapv:UnspecifiedMatching -orphanet.ordo:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref UMLS:C1861835 semapv:UnspecifiedMatching -orphanet.ordo:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:211770 semapv:UnspecifiedMatching -orphanet.ordo:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796282 semapv:UnspecifiedMatching -orphanet.ordo:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref ICD10:P91.6 semapv:UnspecifiedMatching -orphanet.ordo:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref UMLS:C0752304 semapv:UnspecifiedMatching -orphanet.ordo:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref ICD10:D07.1 semapv:UnspecifiedMatching -orphanet.ordo:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref UMLS:C0346210 semapv:UnspecifiedMatching -orphanet.ordo:137593 Infectious epithelial keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching -orphanet.ordo:137596 Neurotrophic keratopathy oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching -orphanet.ordo:137596 Neurotrophic keratopathy oboInOwl:hasDbXref MedDRA:10069732 semapv:UnspecifiedMatching -orphanet.ordo:137596 Neurotrophic keratopathy oboInOwl:hasDbXref UMLS:C0339296 semapv:UnspecifiedMatching -orphanet.ordo:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching -orphanet.ordo:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref UMLS:C1318020 semapv:UnspecifiedMatching -orphanet.ordo:137602 Corneal endotheliitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching -orphanet.ordo:137602 Corneal endotheliitis oboInOwl:hasDbXref UMLS:C0423262 semapv:UnspecifiedMatching -orphanet.ordo:137605 Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:137605 Legius syndrome oboInOwl:hasDbXref MESH:C548032 semapv:UnspecifiedMatching -orphanet.ordo:137605 Legius syndrome oboInOwl:hasDbXref MeSH:C548032 semapv:UnspecifiedMatching -orphanet.ordo:137605 Legius syndrome oboInOwl:hasDbXref OMIM:611431 semapv:UnspecifiedMatching -orphanet.ordo:137605 Legius syndrome oboInOwl:hasDbXref UMLS:C1969623 semapv:UnspecifiedMatching -orphanet.ordo:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref MedDRA:10067467 semapv:UnspecifiedMatching -orphanet.ordo:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref UMLS:C3888044 semapv:UnspecifiedMatching -orphanet.ordo:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref OMIM:611556 semapv:UnspecifiedMatching -orphanet.ordo:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching -orphanet.ordo:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref OMIM:611926 semapv:UnspecifiedMatching -orphanet.ordo:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4302813 semapv:UnspecifiedMatching -orphanet.ordo:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching -orphanet.ordo:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref UMLS:C2676243 semapv:UnspecifiedMatching -orphanet.ordo:137653 Microcephaly-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref OMIM:615236 semapv:UnspecifiedMatching -orphanet.ordo:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching -orphanet.ordo:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching -orphanet.ordo:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref UMLS:C1842180 semapv:UnspecifiedMatching -orphanet.ordo:137672 Pellucid marginal degeneration oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching -orphanet.ordo:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref MESH:C535584 semapv:UnspecifiedMatching -orphanet.ordo:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref MeSH:C535584 semapv:UnspecifiedMatching -orphanet.ordo:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:212080 semapv:UnspecifiedMatching -orphanet.ordo:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:500000 semapv:UnspecifiedMatching -orphanet.ordo:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref UMLS:C1708371 semapv:UnspecifiedMatching -orphanet.ordo:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref MESH:C535766 semapv:UnspecifiedMatching -orphanet.ordo:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref MeSH:C535766 semapv:UnspecifiedMatching -orphanet.ordo:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref OMIM:609162 semapv:UnspecifiedMatching -orphanet.ordo:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref UMLS:C1836683 semapv:UnspecifiedMatching -orphanet.ordo:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref OMIM:609060 semapv:UnspecifiedMatching -orphanet.ordo:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref UMLS:C1836797 semapv:UnspecifiedMatching -orphanet.ordo:137686 Asherman syndrome oboInOwl:hasDbXref ICD10:N85.6 semapv:UnspecifiedMatching -orphanet.ordo:137686 Asherman syndrome oboInOwl:hasDbXref MedDRA:10022821 semapv:UnspecifiedMatching -orphanet.ordo:137686 Asherman syndrome oboInOwl:hasDbXref MedDRA:10053868 semapv:UnspecifiedMatching -orphanet.ordo:137686 Asherman syndrome oboInOwl:hasDbXref UMLS:C0156372 semapv:UnspecifiedMatching -orphanet.ordo:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref MESH:C538287 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref MeSH:C538287 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching -orphanet.ordo:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref UMLS:C1861829 semapv:UnspecifiedMatching -orphanet.ordo:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref OMIM:609924 semapv:UnspecifiedMatching -orphanet.ordo:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref UMLS:C1835922 semapv:UnspecifiedMatching -orphanet.ordo:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref OMIM:607598 semapv:UnspecifiedMatching -orphanet.ordo:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref UMLS:C1843478 semapv:UnspecifiedMatching -orphanet.ordo:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref OMIM:611369 semapv:UnspecifiedMatching -orphanet.ordo:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref OMIM:614915 semapv:UnspecifiedMatching -orphanet.ordo:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref UMLS:C1969655 semapv:UnspecifiedMatching -orphanet.ordo:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10011659 semapv:UnspecifiedMatching -orphanet.ordo:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C0268397 semapv:UnspecifiedMatching -orphanet.ordo:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching -orphanet.ordo:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10056953 semapv:UnspecifiedMatching -orphanet.ordo:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C0546394 semapv:UnspecifiedMatching -orphanet.ordo:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching -orphanet.ordo:137817 Arachnoiditis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching -orphanet.ordo:137817 Arachnoiditis oboInOwl:hasDbXref MESH:D001100 semapv:UnspecifiedMatching -orphanet.ordo:137817 Arachnoiditis oboInOwl:hasDbXref MeSH:D001100 semapv:UnspecifiedMatching -orphanet.ordo:137817 Arachnoiditis oboInOwl:hasDbXref MedDRA:10003074 semapv:UnspecifiedMatching -orphanet.ordo:137817 Arachnoiditis oboInOwl:hasDbXref OMIM:182950 semapv:UnspecifiedMatching -orphanet.ordo:137817 Arachnoiditis oboInOwl:hasDbXref UMLS:C0003708 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.0 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.1 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.2 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.3 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.4 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.5 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.6 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.8 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.9 semapv:UnspecifiedMatching -orphanet.ordo:137820 Extrapelvic endometriosis oboInOwl:hasDbXref UMLS:C0014175 semapv:UnspecifiedMatching -orphanet.ordo:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref OMIM:300486 semapv:UnspecifiedMatching -orphanet.ordo:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1845366 semapv:UnspecifiedMatching -orphanet.ordo:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching -orphanet.ordo:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS:C1855305 semapv:UnspecifiedMatching -orphanet.ordo:137839 Lemierre syndrome oboInOwl:hasDbXref ICD10:J03.8 semapv:UnspecifiedMatching -orphanet.ordo:137839 Lemierre syndrome oboInOwl:hasDbXref MESH:D057831 semapv:UnspecifiedMatching -orphanet.ordo:137839 Lemierre syndrome oboInOwl:hasDbXref MeSH:D057831 semapv:UnspecifiedMatching -orphanet.ordo:137839 Lemierre syndrome oboInOwl:hasDbXref MedDRA:10065552 semapv:UnspecifiedMatching -orphanet.ordo:137839 Lemierre syndrome oboInOwl:hasDbXref UMLS:C0343525 semapv:UnspecifiedMatching -orphanet.ordo:137862 Martínez-Frías syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -orphanet.ordo:137862 Martínez-Frías syndrome oboInOwl:hasDbXref OMIM:601346 semapv:UnspecifiedMatching -orphanet.ordo:137862 Martínez-Frías syndrome oboInOwl:hasDbXref UMLS:C1832443 semapv:UnspecifiedMatching -orphanet.ordo:137867 Madras motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:137867 Madras motor neuron disease oboInOwl:hasDbXref UMLS:C0393551 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref MESH:C538270 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref MeSH:C538270 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:602483 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:612798 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:614669 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:615706 semapv:UnspecifiedMatching -orphanet.ordo:137888 Auriculocondylar syndrome oboInOwl:hasDbXref UMLS:C1865295 semapv:UnspecifiedMatching -orphanet.ordo:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref OMIM:243060 semapv:UnspecifiedMatching -orphanet.ordo:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref UMLS:C0403812 semapv:UnspecifiedMatching -orphanet.ordo:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref OMIM:611105 semapv:UnspecifiedMatching -orphanet.ordo:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref UMLS:C1970180 semapv:UnspecifiedMatching -orphanet.ordo:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref OMIM:611719 semapv:UnspecifiedMatching -orphanet.ordo:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref UMLS:C2673642 semapv:UnspecifiedMatching -orphanet.ordo:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:137914 Choanal atresia oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching -orphanet.ordo:137914 Choanal atresia oboInOwl:hasDbXref MESH:D002754 semapv:UnspecifiedMatching -orphanet.ordo:137914 Choanal atresia oboInOwl:hasDbXref MeSH:D002754 semapv:UnspecifiedMatching -orphanet.ordo:137914 Choanal atresia oboInOwl:hasDbXref MedDRA:10008587 semapv:UnspecifiedMatching -orphanet.ordo:137914 Choanal atresia oboInOwl:hasDbXref OMIM:608911 semapv:UnspecifiedMatching -orphanet.ordo:137914 Choanal atresia oboInOwl:hasDbXref UMLS:C0008297 semapv:UnspecifiedMatching -orphanet.ordo:137917 Choanal atresia, unilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching -orphanet.ordo:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching -orphanet.ordo:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:137929 Neonatal brainstem dysfunction oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:137932 Congenital laryngeal palsy oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching -orphanet.ordo:137932 Congenital laryngeal palsy oboInOwl:hasDbXref UMLS:C0396058 semapv:UnspecifiedMatching -orphanet.ordo:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:138 CHARGE syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:138 CHARGE syndrome oboInOwl:hasDbXref MESH:D058747 semapv:UnspecifiedMatching -orphanet.ordo:138 CHARGE syndrome oboInOwl:hasDbXref MeSH:D058747 semapv:UnspecifiedMatching -orphanet.ordo:138 CHARGE syndrome oboInOwl:hasDbXref MedDRA:10064063 semapv:UnspecifiedMatching -orphanet.ordo:138 CHARGE syndrome oboInOwl:hasDbXref OMIM:214800 semapv:UnspecifiedMatching -orphanet.ordo:138 CHARGE syndrome oboInOwl:hasDbXref UMLS:C0265354 semapv:UnspecifiedMatching -orphanet.ordo:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref OMIM:218900 semapv:UnspecifiedMatching -orphanet.ordo:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref UMLS:C0795914 semapv:UnspecifiedMatching -orphanet.ordo:138044 Rare disease with Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C0031900 semapv:UnspecifiedMatching -orphanet.ordo:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome oboInOwl:hasDbXref UMLS:C2931391 semapv:UnspecifiedMatching -orphanet.ordo:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931269 semapv:UnspecifiedMatching -orphanet.ordo:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref OMIM:212720 semapv:UnspecifiedMatching -orphanet.ordo:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref OMIM:619420 semapv:UnspecifiedMatching -orphanet.ordo:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796037 semapv:UnspecifiedMatching -orphanet.ordo:1388 Catel-Manzke syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1388 Catel-Manzke syndrome oboInOwl:hasDbXref MESH:C535347 semapv:UnspecifiedMatching -orphanet.ordo:1388 Catel-Manzke syndrome oboInOwl:hasDbXref MeSH:C535347 semapv:UnspecifiedMatching -orphanet.ordo:1388 Catel-Manzke syndrome oboInOwl:hasDbXref OMIM:616145 semapv:UnspecifiedMatching -orphanet.ordo:1388 Catel-Manzke syndrome oboInOwl:hasDbXref UMLS:C1844887 semapv:UnspecifiedMatching -orphanet.ordo:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref OMIM:218010 semapv:UnspecifiedMatching -orphanet.ordo:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref UMLS:C1857568 semapv:UnspecifiedMatching -orphanet.ordo:139 CHILD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:139 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 semapv:UnspecifiedMatching -orphanet.ordo:139 CHILD syndrome oboInOwl:hasDbXref UMLS:C0265267 semapv:UnspecifiedMatching -orphanet.ordo:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:139012 Rare bone development disorder oboInOwl:hasDbXref UMLS:C0005941 semapv:UnspecifiedMatching -orphanet.ordo:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref OMIM:117650 semapv:UnspecifiedMatching -orphanet.ordo:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS:C0265342 semapv:UnspecifiedMatching -orphanet.ordo:139390 Non-syndromic craniosynostosis oboInOwl:hasDbXref UMLS:C0010278 semapv:UnspecifiedMatching -orphanet.ordo:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching -orphanet.ordo:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching -orphanet.ordo:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref UMLS:C1527231 semapv:UnspecifiedMatching -orphanet.ordo:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching -orphanet.ordo:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref OMIM:616994 semapv:UnspecifiedMatching -orphanet.ordo:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref UMLS:C1859252 semapv:UnspecifiedMatching -orphanet.ordo:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref ICD10:T78.4 semapv:UnspecifiedMatching -orphanet.ordo:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref MedDRA:10058919 semapv:UnspecifiedMatching -orphanet.ordo:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref UMLS:C3541994 semapv:UnspecifiedMatching -orphanet.ordo:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching -orphanet.ordo:139411 Carney triad oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:139411 Carney triad oboInOwl:hasDbXref OMIM:604287 semapv:UnspecifiedMatching -orphanet.ordo:139411 Carney triad oboInOwl:hasDbXref UMLS:C1858592 semapv:UnspecifiedMatching -orphanet.ordo:139414 Congenital panfollicular nevus oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching -orphanet.ordo:139414 Congenital panfollicular nevus oboInOwl:hasDbXref UMLS:C4476799 semapv:UnspecifiedMatching -orphanet.ordo:139417 Acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching -orphanet.ordo:139417 Acute transverse myelitis oboInOwl:hasDbXref UMLS:C0270627 semapv:UnspecifiedMatching -orphanet.ordo:139423 Idiopathic acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching -orphanet.ordo:139426 Perioral myoclonia with absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:139431 Jeavons syndrome oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref MedDRA:10070595 semapv:UnspecifiedMatching -orphanet.ordo:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS:C0311284 semapv:UnspecifiedMatching -orphanet.ordo:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:612438 semapv:UnspecifiedMatching -orphanet.ordo:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:617899 semapv:UnspecifiedMatching -orphanet.ordo:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref OMIM:611863 semapv:UnspecifiedMatching -orphanet.ordo:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref UMLS:C2678482 semapv:UnspecifiedMatching -orphanet.ordo:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref OMIM:611809 semapv:UnspecifiedMatching -orphanet.ordo:139466 SERKAL syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:139466 SERKAL syndrome oboInOwl:hasDbXref OMIM:611812 semapv:UnspecifiedMatching -orphanet.ordo:139466 SERKAL syndrome oboInOwl:hasDbXref UMLS:C2678492 semapv:UnspecifiedMatching -orphanet.ordo:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref OMIM:607932 semapv:UnspecifiedMatching -orphanet.ordo:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref UMLS:C1864689 semapv:UnspecifiedMatching -orphanet.ordo:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:618874 semapv:UnspecifiedMatching -orphanet.ordo:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C3150928 semapv:UnspecifiedMatching -orphanet.ordo:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching -orphanet.ordo:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref OMIM:612020 semapv:UnspecifiedMatching -orphanet.ordo:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref UMLS:C2677586 semapv:UnspecifiedMatching -orphanet.ordo:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:612016 semapv:UnspecifiedMatching -orphanet.ordo:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:619028 semapv:UnspecifiedMatching -orphanet.ordo:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref UMLS:C2677589 semapv:UnspecifiedMatching -orphanet.ordo:139498 NON RARE IN EUROPE: Hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:139507 Dietary iron overload disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:139507 Dietary iron overload disease oboInOwl:hasDbXref OMIM:601195 semapv:UnspecifiedMatching -orphanet.ordo:139507 Dietary iron overload disease oboInOwl:hasDbXref UMLS:C0268063 semapv:UnspecifiedMatching -orphanet.ordo:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref OMIM:611228 semapv:UnspecifiedMatching -orphanet.ordo:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref UMLS:C1970011 semapv:UnspecifiedMatching -orphanet.ordo:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref OMIM:182960 semapv:UnspecifiedMatching -orphanet.ordo:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref UMLS:C1866784 semapv:UnspecifiedMatching -orphanet.ordo:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:158590 semapv:UnspecifiedMatching -orphanet.ordo:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:608634 semapv:UnspecifiedMatching -orphanet.ordo:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:613376 semapv:UnspecifiedMatching -orphanet.ordo:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:615575 semapv:UnspecifiedMatching -orphanet.ordo:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref UMLS:C1854023 semapv:UnspecifiedMatching -orphanet.ordo:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:600794 semapv:UnspecifiedMatching -orphanet.ordo:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:614751 semapv:UnspecifiedMatching -orphanet.ordo:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:619112 semapv:UnspecifiedMatching -orphanet.ordo:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref UMLS:C1833308 semapv:UnspecifiedMatching -orphanet.ordo:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:607088 semapv:UnspecifiedMatching -orphanet.ordo:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1846823 semapv:UnspecifiedMatching -orphanet.ordo:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching -orphanet.ordo:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref UMLS:C1854023 semapv:UnspecifiedMatching -orphanet.ordo:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:300489 semapv:UnspecifiedMatching -orphanet.ordo:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1845359 semapv:UnspecifiedMatching -orphanet.ordo:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref OMIM:608088 semapv:UnspecifiedMatching -orphanet.ordo:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref UMLS:C1842586 semapv:UnspecifiedMatching -orphanet.ordo:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref OMIM:256840 semapv:UnspecifiedMatching -orphanet.ordo:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref UMLS:C1850395 semapv:UnspecifiedMatching -orphanet.ordo:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref OMIM:300614 semapv:UnspecifiedMatching -orphanet.ordo:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:158580 semapv:UnspecifiedMatching -orphanet.ordo:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:607641 semapv:UnspecifiedMatching -orphanet.ordo:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref OMIM:307010 semapv:UnspecifiedMatching -orphanet.ordo:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref UMLS:C1844005 semapv:UnspecifiedMatching -orphanet.ordo:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref MedDRA:10008033 semapv:UnspecifiedMatching -orphanet.ordo:1399 Richards-Rundle syndrome oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching -orphanet.ordo:1399 Richards-Rundle syndrome oboInOwl:hasDbXref MESH:C535674 semapv:UnspecifiedMatching -orphanet.ordo:1399 Richards-Rundle syndrome oboInOwl:hasDbXref MeSH:C535674 semapv:UnspecifiedMatching -orphanet.ordo:1399 Richards-Rundle syndrome oboInOwl:hasDbXref OMIM:245100 semapv:UnspecifiedMatching -orphanet.ordo:1399 Richards-Rundle syndrome oboInOwl:hasDbXref UMLS:C0796136 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref MeSH:D000012 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:605019 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:615558 semapv:UnspecifiedMatching -orphanet.ordo:14 Abetalipoproteinemia oboInOwl:hasDbXref UMLS:C0000744 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref MESH:D055036 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref MeSH:D055036 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:114290 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:211990 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:602196 semapv:UnspecifiedMatching -orphanet.ordo:140 Campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861922 semapv:UnspecifiedMatching -orphanet.ordo:1401 CHAND syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1401 CHAND syndrome oboInOwl:hasDbXref OMIM:214350 semapv:UnspecifiedMatching -orphanet.ordo:1401 CHAND syndrome oboInOwl:hasDbXref UMLS:C0406733 semapv:UnspecifiedMatching -orphanet.ordo:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching -orphanet.ordo:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref OMIM:606893 semapv:UnspecifiedMatching -orphanet.ordo:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref UMLS:C1847197 semapv:UnspecifiedMatching -orphanet.ordo:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching -orphanet.ordo:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching -orphanet.ordo:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:607088 semapv:UnspecifiedMatching -orphanet.ordo:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching -orphanet.ordo:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching -orphanet.ordo:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:620011 semapv:UnspecifiedMatching -orphanet.ordo:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching -orphanet.ordo:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref MeSH:D009477 semapv:UnspecifiedMatching -orphanet.ordo:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C0027889 semapv:UnspecifiedMatching -orphanet.ordo:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref OMIM:608236 semapv:UnspecifiedMatching -orphanet.ordo:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref UMLS:C1842357 semapv:UnspecifiedMatching -orphanet.ordo:1406 Charlie M syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1408 Hair defect-photosensitivity-intellectual disability syndrome oboInOwl:hasDbXref OMIM:234030 semapv:UnspecifiedMatching -orphanet.ordo:1408 Hair defect-photosensitivity-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1856241 semapv:UnspecifiedMatching -orphanet.ordo:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref ICD10:U04.9 semapv:UnspecifiedMatching -orphanet.ordo:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MESH:D045169 semapv:UnspecifiedMatching -orphanet.ordo:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MeSH:D045169 semapv:UnspecifiedMatching -orphanet.ordo:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MedDRA:10061982 semapv:UnspecifiedMatching -orphanet.ordo:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref UMLS:C1175175 semapv:UnspecifiedMatching -orphanet.ordo:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref MESH:C536746 semapv:UnspecifiedMatching -orphanet.ordo:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref MeSH:C536746 semapv:UnspecifiedMatching -orphanet.ordo:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref OMIM:278200 semapv:UnspecifiedMatching -orphanet.ordo:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref UMLS:C0406718 semapv:UnspecifiedMatching -orphanet.ordo:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:E78.4 semapv:UnspecifiedMatching -orphanet.ordo:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614025 semapv:UnspecifiedMatching -orphanet.ordo:140908 Brachydactyly type B2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:140908 Brachydactyly type B2 oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching -orphanet.ordo:140908 Brachydactyly type B2 oboInOwl:hasDbXref UMLS:C1969652 semapv:UnspecifiedMatching -orphanet.ordo:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref OMIM:184460 semapv:UnspecifiedMatching -orphanet.ordo:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref UMLS:C1866656 semapv:UnspecifiedMatching -orphanet.ordo:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref OMIM:608807 semapv:UnspecifiedMatching -orphanet.ordo:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref UMLS:C1837342 semapv:UnspecifiedMatching -orphanet.ordo:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref MedDRA:10067866 semapv:UnspecifiedMatching -orphanet.ordo:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching -orphanet.ordo:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching -orphanet.ordo:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching -orphanet.ordo:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref UMLS:C1274753 semapv:UnspecifiedMatching -orphanet.ordo:140936 Lelis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:140936 Lelis syndrome oboInOwl:hasDbXref OMIM:608290 semapv:UnspecifiedMatching -orphanet.ordo:140936 Lelis syndrome oboInOwl:hasDbXref UMLS:C1842307 semapv:UnspecifiedMatching -orphanet.ordo:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref OMIM:615961 semapv:UnspecifiedMatching -orphanet.ordo:140944 CLOVES syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:140944 CLOVES syndrome oboInOwl:hasDbXref OMIM:612918 semapv:UnspecifiedMatching -orphanet.ordo:140949 Low-flow priapism oboInOwl:hasDbXref ICD10:N48.3 semapv:UnspecifiedMatching -orphanet.ordo:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref OMIM:300707 semapv:UnspecifiedMatching -orphanet.ordo:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS:C2678045 semapv:UnspecifiedMatching -orphanet.ordo:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:187800 semapv:UnspecifiedMatching -orphanet.ordo:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:613112 semapv:UnspecifiedMatching -orphanet.ordo:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:615193 semapv:UnspecifiedMatching -orphanet.ordo:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:619271 semapv:UnspecifiedMatching -orphanet.ordo:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:619840 semapv:UnspecifiedMatching -orphanet.ordo:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref OMIM:612290 semapv:UnspecifiedMatching -orphanet.ordo:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref UMLS:C2676772 semapv:UnspecifiedMatching -orphanet.ordo:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref OMIM:615598 semapv:UnspecifiedMatching -orphanet.ordo:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref MESH:C535463 semapv:UnspecifiedMatching -orphanet.ordo:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref MeSH:C535463 semapv:UnspecifiedMatching -orphanet.ordo:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:266920 semapv:UnspecifiedMatching -orphanet.ordo:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching -orphanet.ordo:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref UMLS:C1849437 semapv:UnspecifiedMatching -orphanet.ordo:140976 RHYNS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:140976 RHYNS syndrome oboInOwl:hasDbXref MESH:C537612 semapv:UnspecifiedMatching -orphanet.ordo:140976 RHYNS syndrome oboInOwl:hasDbXref MeSH:C537612 semapv:UnspecifiedMatching -orphanet.ordo:140976 RHYNS syndrome oboInOwl:hasDbXref OMIM:602152 semapv:UnspecifiedMatching -orphanet.ordo:140976 RHYNS syndrome oboInOwl:hasDbXref UMLS:C1865794 semapv:UnspecifiedMatching -orphanet.ordo:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching -orphanet.ordo:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MESH:C535276 semapv:UnspecifiedMatching -orphanet.ordo:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MESH:D020293 semapv:UnspecifiedMatching -orphanet.ordo:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MeSH:C535276 semapv:UnspecifiedMatching -orphanet.ordo:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MeSH:D020293 semapv:UnspecifiedMatching -orphanet.ordo:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref UMLS:C2930862 semapv:UnspecifiedMatching -orphanet.ordo:140997 Orofaciodigital syndrome oboInOwl:hasDbXref UMLS:C0029294 semapv:UnspecifiedMatching -orphanet.ordo:141 Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:141 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching -orphanet.ordo:141 Canavan disease oboInOwl:hasDbXref MeSH:D017825 semapv:UnspecifiedMatching -orphanet.ordo:141 Canavan disease oboInOwl:hasDbXref MedDRA:10067608 semapv:UnspecifiedMatching -orphanet.ordo:141 Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching -orphanet.ordo:141 Canavan disease oboInOwl:hasDbXref UMLS:C0206307 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref MESH:C536939 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref MeSH:C536939 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:191480 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:617251 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:617252 semapv:UnspecifiedMatching -orphanet.ordo:1410 Uncombable hair syndrome oboInOwl:hasDbXref UMLS:C0432347 semapv:UnspecifiedMatching -orphanet.ordo:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref OMIM:612913 semapv:UnspecifiedMatching -orphanet.ordo:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref UMLS:C2752048 semapv:UnspecifiedMatching -orphanet.ordo:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref OMIM:258865 semapv:UnspecifiedMatching -orphanet.ordo:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref UMLS:C0796102 semapv:UnspecifiedMatching -orphanet.ordo:141013 First branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching -orphanet.ordo:141022 Second branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching -orphanet.ordo:141022 Second branchial cleft anomaly oboInOwl:hasDbXref OMIM:113600 semapv:UnspecifiedMatching -orphanet.ordo:141030 Third branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching -orphanet.ordo:141037 Fourth branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching -orphanet.ordo:141046 Cervical dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141051 Facial dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141061 Commissural lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching -orphanet.ordo:141064 Lower lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching -orphanet.ordo:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching -orphanet.ordo:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching -orphanet.ordo:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref OMIM:108760 semapv:UnspecifiedMatching -orphanet.ordo:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref OMIM:607842 semapv:UnspecifiedMatching -orphanet.ordo:141077 Epignathus oboInOwl:hasDbXref ICD10:D37.0 semapv:UnspecifiedMatching -orphanet.ordo:141077 Epignathus oboInOwl:hasDbXref UMLS:C0266725 semapv:UnspecifiedMatching -orphanet.ordo:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref ICD10:H04.6 semapv:UnspecifiedMatching -orphanet.ordo:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref UMLS:C0155241 semapv:UnspecifiedMatching -orphanet.ordo:141091 Polyrrhinia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:141096 Supernumerary nostril oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:141099 Proboscis lateralis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:141103 Nasal dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141103 Nasal dermoid cyst oboInOwl:hasDbXref OMIM:600679 semapv:UnspecifiedMatching -orphanet.ordo:141103 Nasal dermoid cyst oboInOwl:hasDbXref UMLS:C1833473 semapv:UnspecifiedMatching -orphanet.ordo:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching -orphanet.ordo:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:141112 Nasal glial heterotopia oboInOwl:hasDbXref UMLS:C0266490 semapv:UnspecifiedMatching -orphanet.ordo:141118 Nasal encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching -orphanet.ordo:141118 Nasal encephalocele oboInOwl:hasDbXref UMLS:C0014066 semapv:UnspecifiedMatching -orphanet.ordo:141121 Congenital subglottic stenosis oboInOwl:hasDbXref ICD10:Q31.1 semapv:UnspecifiedMatching -orphanet.ordo:141121 Congenital subglottic stenosis oboInOwl:hasDbXref UMLS:C0396051 semapv:UnspecifiedMatching -orphanet.ordo:141124 Congenital laryngeal cyst oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching -orphanet.ordo:141124 Congenital laryngeal cyst oboInOwl:hasDbXref UMLS:C0339880 semapv:UnspecifiedMatching -orphanet.ordo:141127 Congenital tracheal stenosis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:141127 Congenital tracheal stenosis oboInOwl:hasDbXref MESH:C536975 semapv:UnspecifiedMatching -orphanet.ordo:141127 Congenital tracheal stenosis oboInOwl:hasDbXref MeSH:C536975 semapv:UnspecifiedMatching -orphanet.ordo:141127 Congenital tracheal stenosis oboInOwl:hasDbXref OMIM:603569 semapv:UnspecifiedMatching -orphanet.ordo:141127 Congenital tracheal stenosis oboInOwl:hasDbXref UMLS:C0265767 semapv:UnspecifiedMatching -orphanet.ordo:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:141145 Hemifacial hyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching -orphanet.ordo:141145 Hemifacial hyperplasia oboInOwl:hasDbXref OMIM:133900 semapv:UnspecifiedMatching -orphanet.ordo:141145 Hemifacial hyperplasia oboInOwl:hasDbXref UMLS:C1399354 semapv:UnspecifiedMatching -orphanet.ordo:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching -orphanet.ordo:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref MESH:C535862 semapv:UnspecifiedMatching -orphanet.ordo:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref MeSH:C535862 semapv:UnspecifiedMatching -orphanet.ordo:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref OMIM:606773 semapv:UnspecifiedMatching -orphanet.ordo:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref UMLS:C1847521 semapv:UnspecifiedMatching -orphanet.ordo:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching -orphanet.ordo:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref OMIM:612776 semapv:UnspecifiedMatching -orphanet.ordo:141163 Glossopalatine ankylosis oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching -orphanet.ordo:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching -orphanet.ordo:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching -orphanet.ordo:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching -orphanet.ordo:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275417 semapv:UnspecifiedMatching -orphanet.ordo:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275421 semapv:UnspecifiedMatching -orphanet.ordo:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -orphanet.ordo:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -orphanet.ordo:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref MESH:C536943 semapv:UnspecifiedMatching -orphanet.ordo:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref MeSH:C536943 semapv:UnspecifiedMatching -orphanet.ordo:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching -orphanet.ordo:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186570 semapv:UnspecifiedMatching -orphanet.ordo:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref UMLS:C1861305 semapv:UnspecifiedMatching -orphanet.ordo:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching -orphanet.ordo:141214 Isolated congenital syngnathia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching -orphanet.ordo:141219 Nasal dorsum fistula oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141229 Facial cleft oboInOwl:hasDbXref UMLS:C0685787 semapv:UnspecifiedMatching -orphanet.ordo:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141242 Paramedian nasal cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141242 Paramedian nasal cleft oboInOwl:hasDbXref OMIM:614687 semapv:UnspecifiedMatching -orphanet.ordo:141242 Paramedian nasal cleft oboInOwl:hasDbXref UMLS:C0221363 semapv:UnspecifiedMatching -orphanet.ordo:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref OMIM:600251 semapv:UnspecifiedMatching -orphanet.ordo:141261 Tessier number 5 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141265 Tessier number 6 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref ICD10:Q18.4 semapv:UnspecifiedMatching -orphanet.ordo:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref OMIM:613545 semapv:UnspecifiedMatching -orphanet.ordo:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref UMLS:C0024433 semapv:UnspecifiedMatching -orphanet.ordo:141288 Midline cervical cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:141288 Midline cervical cleft oboInOwl:hasDbXref UMLS:C1274890 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching -orphanet.ordo:141291 Cleft lip and alveolus oboInOwl:hasDbXref UMLS:C1298692 semapv:UnspecifiedMatching -orphanet.ordo:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref MESH:C548034 semapv:UnspecifiedMatching -orphanet.ordo:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref MeSH:C548034 semapv:UnspecifiedMatching -orphanet.ordo:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref UMLS:C2932679 semapv:UnspecifiedMatching -orphanet.ordo:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref MESH:C548035 semapv:UnspecifiedMatching -orphanet.ordo:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref MeSH:C548035 semapv:UnspecifiedMatching -orphanet.ordo:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref UMLS:C2932680 semapv:UnspecifiedMatching -orphanet.ordo:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:141333 Biemond syndrome type 2 oboInOwl:hasDbXref OMIM:210350 semapv:UnspecifiedMatching -orphanet.ordo:141333 Biemond syndrome type 2 oboInOwl:hasDbXref UMLS:C1859487 semapv:UnspecifiedMatching -orphanet.ordo:141333 Biemond syndrome type 2 oboInOwl:hasDbXref UMLS:C2930903 semapv:UnspecifiedMatching -orphanet.ordo:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching -orphanet.ordo:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C0268314 semapv:UnspecifiedMatching -orphanet.ordo:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref OMIM:301068 semapv:UnspecifiedMatching -orphanet.ordo:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref UMLS:C0795969 semapv:UnspecifiedMatching -orphanet.ordo:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref ICD10:M11.1 semapv:UnspecifiedMatching -orphanet.ordo:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:118600 semapv:UnspecifiedMatching -orphanet.ordo:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:600668 semapv:UnspecifiedMatching -orphanet.ordo:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref UMLS:C0553730 semapv:UnspecifiedMatching -orphanet.ordo:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching -orphanet.ordo:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MESH:C536910 semapv:UnspecifiedMatching -orphanet.ordo:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MeSH:C536910 semapv:UnspecifiedMatching -orphanet.ordo:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MedDRA:10002240 semapv:UnspecifiedMatching -orphanet.ordo:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238461 semapv:UnspecifiedMatching -orphanet.ordo:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref OMIM:600092 semapv:UnspecifiedMatching -orphanet.ordo:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref UMLS:C1838654 semapv:UnspecifiedMatching -orphanet.ordo:1423 Lethal recessive chondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1425 Desbuquois syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1425 Desbuquois syndrome oboInOwl:hasDbXref MESH:C535943 semapv:UnspecifiedMatching -orphanet.ordo:1425 Desbuquois syndrome oboInOwl:hasDbXref MeSH:C535943 semapv:UnspecifiedMatching -orphanet.ordo:1425 Desbuquois syndrome oboInOwl:hasDbXref OMIM:251450 semapv:UnspecifiedMatching -orphanet.ordo:1425 Desbuquois syndrome oboInOwl:hasDbXref OMIM:615777 semapv:UnspecifiedMatching -orphanet.ordo:1425 Desbuquois syndrome oboInOwl:hasDbXref UMLS:C0432242 semapv:UnspecifiedMatching -orphanet.ordo:1426 Greenberg dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:1426 Greenberg dysplasia oboInOwl:hasDbXref MESH:C537299 semapv:UnspecifiedMatching -orphanet.ordo:1426 Greenberg dysplasia oboInOwl:hasDbXref MeSH:C537299 semapv:UnspecifiedMatching -orphanet.ordo:1426 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching -orphanet.ordo:1426 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C2931048 semapv:UnspecifiedMatching -orphanet.ordo:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref OMIM:215150 semapv:UnspecifiedMatching -orphanet.ordo:1429 Benign hereditary chorea oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching -orphanet.ordo:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:118700 semapv:UnspecifiedMatching -orphanet.ordo:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:215450 semapv:UnspecifiedMatching -orphanet.ordo:1429 Benign hereditary chorea oboInOwl:hasDbXref UMLS:C0393584 semapv:UnspecifiedMatching -orphanet.ordo:143 Parathyroid carcinoma oboInOwl:hasDbXref ICD10:C75.0 semapv:UnspecifiedMatching -orphanet.ordo:143 Parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 semapv:UnspecifiedMatching -orphanet.ordo:143 Parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0687150 semapv:UnspecifiedMatching -orphanet.ordo:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref MESH:D002819 semapv:UnspecifiedMatching -orphanet.ordo:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref MeSH:D002819 semapv:UnspecifiedMatching -orphanet.ordo:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref UMLS:C0752210 semapv:UnspecifiedMatching -orphanet.ordo:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:156590 semapv:UnspecifiedMatching -orphanet.ordo:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3501946 semapv:UnspecifiedMatching -orphanet.ordo:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref UMLS:C2931026 semapv:UnspecifiedMatching -orphanet.ordo:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref OMIM:303110 semapv:UnspecifiedMatching -orphanet.ordo:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1844836 semapv:UnspecifiedMatching -orphanet.ordo:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:309620 semapv:UnspecifiedMatching -orphanet.ordo:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref MESH:C535361 semapv:UnspecifiedMatching -orphanet.ordo:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref MeSH:C535361 semapv:UnspecifiedMatching -orphanet.ordo:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref UMLS:C0265395 semapv:UnspecifiedMatching -orphanet.ordo:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref MESH:C538086 semapv:UnspecifiedMatching -orphanet.ordo:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref MeSH:C538086 semapv:UnspecifiedMatching -orphanet.ordo:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref UMLS:C0265438 semapv:UnspecifiedMatching -orphanet.ordo:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref UMLS:C0795843 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref MeSH:D003123 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref MedDRA:10051981 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:120435 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:609310 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:613244 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614331 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614337 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614350 semapv:UnspecifiedMatching -orphanet.ordo:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614385 semapv:UnspecifiedMatching -orphanet.ordo:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref MESH:C535487 semapv:UnspecifiedMatching -orphanet.ordo:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref MeSH:C535487 semapv:UnspecifiedMatching -orphanet.ordo:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref OMIM:616606 semapv:UnspecifiedMatching -orphanet.ordo:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref UMLS:C2930916 semapv:UnspecifiedMatching -orphanet.ordo:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref MESH:C538046 semapv:UnspecifiedMatching -orphanet.ordo:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref MeSH:C538046 semapv:UnspecifiedMatching -orphanet.ordo:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref UMLS:C2931714 semapv:UnspecifiedMatching -orphanet.ordo:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref MESH:C538304 semapv:UnspecifiedMatching -orphanet.ordo:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref MeSH:C538304 semapv:UnspecifiedMatching -orphanet.ordo:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref UMLS:C0265475 semapv:UnspecifiedMatching -orphanet.ordo:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref UMLS:C2931812 semapv:UnspecifiedMatching -orphanet.ordo:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref MESH:C535369 semapv:UnspecifiedMatching -orphanet.ordo:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref MeSH:C535369 semapv:UnspecifiedMatching -orphanet.ordo:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref UMLS:C0265482 semapv:UnspecifiedMatching -orphanet.ordo:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref MESH:C537109 semapv:UnspecifiedMatching -orphanet.ordo:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref MeSH:C537109 semapv:UnspecifiedMatching -orphanet.ordo:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref UMLS:C0265487 semapv:UnspecifiedMatching -orphanet.ordo:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref MESH:C536795 semapv:UnspecifiedMatching -orphanet.ordo:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref MeSH:C536795 semapv:UnspecifiedMatching -orphanet.ordo:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref UMLS:C0265492 semapv:UnspecifiedMatching -orphanet.ordo:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref MESH:C537636 semapv:UnspecifiedMatching -orphanet.ordo:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref MeSH:C537636 semapv:UnspecifiedMatching -orphanet.ordo:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref UMLS:C0265407 semapv:UnspecifiedMatching -orphanet.ordo:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref MESH:C537763 semapv:UnspecifiedMatching -orphanet.ordo:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref MeSH:C537763 semapv:UnspecifiedMatching -orphanet.ordo:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref UMLS:C0795814 semapv:UnspecifiedMatching -orphanet.ordo:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref MESH:C537813 semapv:UnspecifiedMatching -orphanet.ordo:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref MeSH:C537813 semapv:UnspecifiedMatching -orphanet.ordo:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref UMLS:C0795818 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50.9 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:604370 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:612555 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:613399 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:614291 semapv:UnspecifiedMatching -orphanet.ordo:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C0677776 semapv:UnspecifiedMatching -orphanet.ordo:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref MESH:C537824 semapv:UnspecifiedMatching -orphanet.ordo:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref MeSH:C537824 semapv:UnspecifiedMatching -orphanet.ordo:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref UMLS:C2931633 semapv:UnspecifiedMatching -orphanet.ordo:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:1451 CINCA syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching -orphanet.ordo:1451 CINCA syndrome oboInOwl:hasDbXref UMLS:C0409818 semapv:UnspecifiedMatching -orphanet.ordo:1452 Cleidocranial dysplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:1452 Cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching -orphanet.ordo:1452 Cleidocranial dysplasia oboInOwl:hasDbXref MeSH:D002973 semapv:UnspecifiedMatching -orphanet.ordo:1452 Cleidocranial dysplasia oboInOwl:hasDbXref OMIM:119600 semapv:UnspecifiedMatching -orphanet.ordo:1452 Cleidocranial dysplasia oboInOwl:hasDbXref OMIM:620099 semapv:UnspecifiedMatching -orphanet.ordo:1452 Cleidocranial dysplasia oboInOwl:hasDbXref UMLS:C0008928 semapv:UnspecifiedMatching -orphanet.ordo:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref OMIM:119650 semapv:UnspecifiedMatching -orphanet.ordo:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref UMLS:C1861515 semapv:UnspecifiedMatching -orphanet.ordo:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:216360 semapv:UnspecifiedMatching -orphanet.ordo:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619111 semapv:UnspecifiedMatching -orphanet.ordo:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619113 semapv:UnspecifiedMatching -orphanet.ordo:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref UMLS:C1857662 semapv:UnspecifiedMatching -orphanet.ordo:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -orphanet.ordo:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref MESH:C531623 semapv:UnspecifiedMatching -orphanet.ordo:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref MeSH:C531623 semapv:UnspecifiedMatching -orphanet.ordo:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref UMLS:C2930803 semapv:UnspecifiedMatching -orphanet.ordo:1456 Atypical coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -orphanet.ordo:1456 Atypical coarctation of aorta oboInOwl:hasDbXref UMLS:C3805239 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref MESH:C531623 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref MESH:D001017 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref MeSH:C531623 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref MeSH:D001017 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref MedDRA:10009807 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref OMIM:120000 semapv:UnspecifiedMatching -orphanet.ordo:1457 Aorta coarctation oboInOwl:hasDbXref UMLS:C2930803 semapv:UnspecifiedMatching -orphanet.ordo:1458 CODAS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1458 CODAS syndrome oboInOwl:hasDbXref MESH:C536434 semapv:UnspecifiedMatching -orphanet.ordo:1458 CODAS syndrome oboInOwl:hasDbXref MeSH:C536434 semapv:UnspecifiedMatching -orphanet.ordo:1458 CODAS syndrome oboInOwl:hasDbXref OMIM:600373 semapv:UnspecifiedMatching -orphanet.ordo:1458 CODAS syndrome oboInOwl:hasDbXref UMLS:C1838180 semapv:UnspecifiedMatching -orphanet.ordo:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref OMIM:226810 semapv:UnspecifiedMatching -orphanet.ordo:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching -orphanet.ordo:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching -orphanet.ordo:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching -orphanet.ordo:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238463 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615157 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615158 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615159 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615160 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615453 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615824 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615838 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:616111 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:618775 semapv:UnspecifiedMatching -orphanet.ordo:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:620137 semapv:UnspecifiedMatching -orphanet.ordo:1461 Criss-cross heart oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:1461 Criss-cross heart oboInOwl:hasDbXref UMLS:C0010334 semapv:UnspecifiedMatching -orphanet.ordo:1463 Triatrial heart oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching -orphanet.ordo:1463 Triatrial heart oboInOwl:hasDbXref UMLS:C0009995 semapv:UnspecifiedMatching -orphanet.ordo:1464 Univentricular heart oboInOwl:hasDbXref ICD10:Q20.4 semapv:UnspecifiedMatching -orphanet.ordo:1464 Univentricular heart oboInOwl:hasDbXref MedDRA:10045545 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref MeSH:C536436 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:135900 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:614607 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:614608 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:614609 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:615866 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:616938 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:617808 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618027 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618362 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618506 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618779 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:619325 semapv:UnspecifiedMatching -orphanet.ordo:1465 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS:C0265338 semapv:UnspecifiedMatching -orphanet.ordo:1466 COFS syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1466 COFS syndrome oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching -orphanet.ordo:1466 COFS syndrome oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching -orphanet.ordo:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching -orphanet.ordo:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching -orphanet.ordo:1466 COFS syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching -orphanet.ordo:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching -orphanet.ordo:1467 Cogan syndrome oboInOwl:hasDbXref MESH:D055952 semapv:UnspecifiedMatching -orphanet.ordo:1467 Cogan syndrome oboInOwl:hasDbXref MeSH:D055952 semapv:UnspecifiedMatching -orphanet.ordo:1467 Cogan syndrome oboInOwl:hasDbXref MedDRA:10056667 semapv:UnspecifiedMatching -orphanet.ordo:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref MedDRA:10058297 semapv:UnspecifiedMatching -orphanet.ordo:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref OMIM:237300 semapv:UnspecifiedMatching -orphanet.ordo:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref UMLS:C0751753 semapv:UnspecifiedMatching -orphanet.ordo:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref MESH:C535969 semapv:UnspecifiedMatching -orphanet.ordo:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref MeSH:C535969 semapv:UnspecifiedMatching -orphanet.ordo:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref OMIM:120400 semapv:UnspecifiedMatching -orphanet.ordo:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref UMLS:C1852752 semapv:UnspecifiedMatching -orphanet.ordo:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref OMIM:120433 semapv:UnspecifiedMatching -orphanet.ordo:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS:C0795902 semapv:UnspecifiedMatching -orphanet.ordo:1474 Colobomatous-microphthalmia-heart disease-hearing loss syndrome oboInOwl:hasDbXref UMLS:C2931818 semapv:UnspecifiedMatching -orphanet.ordo:1475 Renal coloboma syndrome oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching -orphanet.ordo:1475 Renal coloboma syndrome oboInOwl:hasDbXref OMIM:120330 semapv:UnspecifiedMatching -orphanet.ordo:1475 Renal coloboma syndrome oboInOwl:hasDbXref UMLS:C1852759 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref MeSH:D006344 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref MedDRA:10003664 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref MedDRA:10068864 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:108800 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:607941 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:612794 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:613087 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614433 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614475 semapv:UnspecifiedMatching -orphanet.ordo:1478 Interatrial communication oboInOwl:hasDbXref UMLS:C0018817 semapv:UnspecifiedMatching -orphanet.ordo:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref OMIM:108900 semapv:UnspecifiedMatching -orphanet.ordo:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref UMLS:C3502353 semapv:UnspecifiedMatching -orphanet.ordo:148 Multiple carboxylase deficiency oboInOwl:hasDbXref MESH:D009100 semapv:UnspecifiedMatching -orphanet.ordo:148 Multiple carboxylase deficiency oboInOwl:hasDbXref MeSH:D009100 semapv:UnspecifiedMatching -orphanet.ordo:148 Multiple carboxylase deficiency oboInOwl:hasDbXref MedDRA:10028176 semapv:UnspecifiedMatching -orphanet.ordo:148 Multiple carboxylase deficiency oboInOwl:hasDbXref UMLS:C0026755 semapv:UnspecifiedMatching -orphanet.ordo:1480 NON RARE IN EUROPE: Ventricular septal defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching -orphanet.ordo:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:A54.3+ semapv:UnspecifiedMatching -orphanet.ordo:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:H13.1* semapv:UnspecifiedMatching -orphanet.ordo:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref UMLS:C0339166 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C535465 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C538135 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref MeSH:C535465 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref MeSH:C538135 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:301815 semapv:UnspecifiedMatching -orphanet.ordo:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C2931745 semapv:UnspecifiedMatching -orphanet.ordo:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref OMIM:208158 semapv:UnspecifiedMatching -orphanet.ordo:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref UMLS:C1859710 semapv:UnspecifiedMatching -orphanet.ordo:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref MESH:C537194 semapv:UnspecifiedMatching -orphanet.ordo:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref MeSH:C537194 semapv:UnspecifiedMatching -orphanet.ordo:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref OMIM:253310 semapv:UnspecifiedMatching -orphanet.ordo:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref UMLS:C1854664 semapv:UnspecifiedMatching -orphanet.ordo:1487 Cooks syndrome oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching -orphanet.ordo:1487 Cooks syndrome oboInOwl:hasDbXref OMIM:106995 semapv:UnspecifiedMatching -orphanet.ordo:1487 Cooks syndrome oboInOwl:hasDbXref UMLS:C1862841 semapv:UnspecifiedMatching -orphanet.ordo:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref OMIM:209770 semapv:UnspecifiedMatching -orphanet.ordo:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref UMLS:C1859591 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.0 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.1 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.8 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.9 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref MESH:D014917 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref MeSH:D014917 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref MedDRA:10034738 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref MedDRA:10047974 semapv:UnspecifiedMatching -orphanet.ordo:1489 Whooping cough oboInOwl:hasDbXref UMLS:C0043167 semapv:UnspecifiedMatching -orphanet.ordo:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MESH:C535473 semapv:UnspecifiedMatching -orphanet.ordo:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MeSH:C535473 semapv:UnspecifiedMatching -orphanet.ordo:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref OMIM:217400 semapv:UnspecifiedMatching -orphanet.ordo:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS:C1857572 semapv:UnspecifiedMatching -orphanet.ordo:1493 Vici syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1493 Vici syndrome oboInOwl:hasDbXref OMIM:242840 semapv:UnspecifiedMatching -orphanet.ordo:1493 Vici syndrome oboInOwl:hasDbXref UMLS:C1855772 semapv:UnspecifiedMatching -orphanet.ordo:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref MESH:C536446 semapv:UnspecifiedMatching -orphanet.ordo:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref MeSH:C536446 semapv:UnspecifiedMatching -orphanet.ordo:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref OMIM:218000 semapv:UnspecifiedMatching -orphanet.ordo:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref UMLS:C0795950 semapv:UnspecifiedMatching -orphanet.ordo:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref OMIM:304100 semapv:UnspecifiedMatching -orphanet.ordo:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref UMLS:C1839909 semapv:UnspecifiedMatching -orphanet.ordo:15 Achondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching -orphanet.ordo:15 Achondroplasia oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching -orphanet.ordo:15 Achondroplasia oboInOwl:hasDbXref MeSH:D000130 semapv:UnspecifiedMatching -orphanet.ordo:15 Achondroplasia oboInOwl:hasDbXref MedDRA:10000452 semapv:UnspecifiedMatching -orphanet.ordo:15 Achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching -orphanet.ordo:15 Achondroplasia oboInOwl:hasDbXref UMLS:C0001080 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.0 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.1 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.2 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.3 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MESH:C538339 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MeSH:C538339 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MedDRA:10028793 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:161550 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:607107 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:617075 semapv:UnspecifiedMatching -orphanet.ordo:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref UMLS:C2931822 semapv:UnspecifiedMatching -orphanet.ordo:1501 Adrenocortical carcinoma oboInOwl:hasDbXref ICD10:C74.0 semapv:UnspecifiedMatching -orphanet.ordo:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MESH:D018268 semapv:UnspecifiedMatching -orphanet.ordo:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MeSH:D018268 semapv:UnspecifiedMatching -orphanet.ordo:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MedDRA:10001388 semapv:UnspecifiedMatching -orphanet.ordo:1501 Adrenocortical carcinoma oboInOwl:hasDbXref OMIM:202300 semapv:UnspecifiedMatching -orphanet.ordo:1501 Adrenocortical carcinoma oboInOwl:hasDbXref UMLS:C0206686 semapv:UnspecifiedMatching -orphanet.ordo:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref MESH:D012779 semapv:UnspecifiedMatching -orphanet.ordo:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref MeSH:D012779 semapv:UnspecifiedMatching -orphanet.ordo:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref UMLS:C0036996 semapv:UnspecifiedMatching -orphanet.ordo:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C2931543 semapv:UnspecifiedMatching -orphanet.ordo:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref MESH:C535863 semapv:UnspecifiedMatching -orphanet.ordo:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref MeSH:C535863 semapv:UnspecifiedMatching -orphanet.ordo:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:UnspecifiedMatching -orphanet.ordo:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:618529 semapv:UnspecifiedMatching -orphanet.ordo:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref UMLS:C1849334 semapv:UnspecifiedMatching -orphanet.ordo:1508 Coxoauricular syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1508 Coxoauricular syndrome oboInOwl:hasDbXref OMIM:122780 semapv:UnspecifiedMatching -orphanet.ordo:1508 Coxoauricular syndrome oboInOwl:hasDbXref UMLS:C1852513 semapv:UnspecifiedMatching -orphanet.ordo:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching -orphanet.ordo:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 semapv:UnspecifiedMatching -orphanet.ordo:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1840061 semapv:UnspecifiedMatching -orphanet.ordo:1512 Crane-Heise syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1512 Crane-Heise syndrome oboInOwl:hasDbXref MESH:C536452 semapv:UnspecifiedMatching -orphanet.ordo:1512 Crane-Heise syndrome oboInOwl:hasDbXref MeSH:C536452 semapv:UnspecifiedMatching -orphanet.ordo:1512 Crane-Heise syndrome oboInOwl:hasDbXref OMIM:218090 semapv:UnspecifiedMatching -orphanet.ordo:1512 Crane-Heise syndrome oboInOwl:hasDbXref UMLS:C1857532 semapv:UnspecifiedMatching -orphanet.ordo:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching -orphanet.ordo:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:122860 semapv:UnspecifiedMatching -orphanet.ordo:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:218300 semapv:UnspecifiedMatching -orphanet.ordo:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0410539 semapv:UnspecifiedMatching -orphanet.ordo:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref OMIM:312860 semapv:UnspecifiedMatching -orphanet.ordo:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1839311 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:218330 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:613610 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:614099 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:614378 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:617102 semapv:UnspecifiedMatching -orphanet.ordo:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref UMLS:C0432235 semapv:UnspecifiedMatching -orphanet.ordo:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref MESH:C536455 semapv:UnspecifiedMatching -orphanet.ordo:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref MeSH:C536455 semapv:UnspecifiedMatching -orphanet.ordo:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref OMIM:218350 semapv:UnspecifiedMatching -orphanet.ordo:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C1857511 semapv:UnspecifiedMatching -orphanet.ordo:1517 Cantú syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1517 Cantú syndrome oboInOwl:hasDbXref MESH:C535572 semapv:UnspecifiedMatching -orphanet.ordo:1517 Cantú syndrome oboInOwl:hasDbXref MeSH:C535572 semapv:UnspecifiedMatching -orphanet.ordo:1517 Cantú syndrome oboInOwl:hasDbXref OMIM:239850 semapv:UnspecifiedMatching -orphanet.ordo:1517 Cantú syndrome oboInOwl:hasDbXref UMLS:C0795905 semapv:UnspecifiedMatching -orphanet.ordo:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref OMIM:145420 semapv:UnspecifiedMatching -orphanet.ordo:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref UMLS:C1840378 semapv:UnspecifiedMatching -orphanet.ordo:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching -orphanet.ordo:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref MeSH:C536456 semapv:UnspecifiedMatching -orphanet.ordo:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching -orphanet.ordo:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref UMLS:C0220767 semapv:UnspecifiedMatching -orphanet.ordo:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref OMIM:123000 semapv:UnspecifiedMatching -orphanet.ordo:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref OMIM:218400 semapv:UnspecifiedMatching -orphanet.ordo:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C3887594 semapv:UnspecifiedMatching -orphanet.ordo:1524 Craniomicromelic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1524 Craniomicromelic syndrome oboInOwl:hasDbXref OMIM:602558 semapv:UnspecifiedMatching -orphanet.ordo:1524 Craniomicromelic syndrome oboInOwl:hasDbXref UMLS:C1865184 semapv:UnspecifiedMatching -orphanet.ordo:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching -orphanet.ordo:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching -orphanet.ordo:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref UMLS:C2678439 semapv:UnspecifiedMatching -orphanet.ordo:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching -orphanet.ordo:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref UMLS:C1832590 semapv:UnspecifiedMatching -orphanet.ordo:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref MESH:C535597 semapv:UnspecifiedMatching -orphanet.ordo:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref MeSH:C535597 semapv:UnspecifiedMatching -orphanet.ordo:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref OMIM:218670 semapv:UnspecifiedMatching -orphanet.ordo:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref UMLS:C1857471 semapv:UnspecifiedMatching -orphanet.ordo:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching -orphanet.ordo:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MeSH:C536453 semapv:UnspecifiedMatching -orphanet.ordo:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref OMIM:122880 semapv:UnspecifiedMatching -orphanet.ordo:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS:C1852510 semapv:UnspecifiedMatching -orphanet.ordo:1531 Craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:1531 Craniosynostosis oboInOwl:hasDbXref MESH:D003398 semapv:UnspecifiedMatching -orphanet.ordo:1531 Craniosynostosis oboInOwl:hasDbXref MeSH:D003398 semapv:UnspecifiedMatching -orphanet.ordo:1531 Craniosynostosis oboInOwl:hasDbXref MedDRA:10048907 semapv:UnspecifiedMatching -orphanet.ordo:1531 Craniosynostosis oboInOwl:hasDbXref MedDRA:10049889 semapv:UnspecifiedMatching -orphanet.ordo:1531 Craniosynostosis oboInOwl:hasDbXref UMLS:C0010278 semapv:UnspecifiedMatching -orphanet.ordo:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref OMIM:601853 semapv:UnspecifiedMatching -orphanet.ordo:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref UMLS:C0795959 semapv:UnspecifiedMatching -orphanet.ordo:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:600884 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601154 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601493 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601494 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604145 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604288 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604765 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605582 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:606685 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:607482 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:608569 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:609909 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:609915 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611407 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611615 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611878 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611879 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611880 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:612158 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:612877 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613122 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613172 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613252 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613286 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613424 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613426 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613642 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613694 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613697 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613881 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:614672 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615184 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615235 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615248 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615373 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615396 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615916 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:618189 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619371 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619492 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619747 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619897 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:620203 semapv:UnspecifiedMatching -orphanet.ordo:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0340427 semapv:UnspecifiedMatching -orphanet.ordo:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref MESH:C537559 semapv:UnspecifiedMatching -orphanet.ordo:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref MeSH:C537559 semapv:UnspecifiedMatching -orphanet.ordo:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref OMIM:123150 semapv:UnspecifiedMatching -orphanet.ordo:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS:C0795998 semapv:UnspecifiedMatching -orphanet.ordo:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref OMIM:604757 semapv:UnspecifiedMatching -orphanet.ordo:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref UMLS:C2931287 semapv:UnspecifiedMatching -orphanet.ordo:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:1545 Crisponi syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:1545 Crisponi syndrome oboInOwl:hasDbXref MESH:C536214 semapv:UnspecifiedMatching -orphanet.ordo:1545 Crisponi syndrome oboInOwl:hasDbXref MeSH:C536214 semapv:UnspecifiedMatching -orphanet.ordo:1545 Crisponi syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching -orphanet.ordo:1545 Crisponi syndrome oboInOwl:hasDbXref UMLS:C1832409 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.0 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.1 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.2 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.3 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.7 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.8 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.9 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref MESH:D003453 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref MeSH:D003453 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref MedDRA:10011490 semapv:UnspecifiedMatching -orphanet.ordo:1546 Cryptococcosis oboInOwl:hasDbXref UMLS:C0010414 semapv:UnspecifiedMatching -orphanet.ordo:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref OMIM:123560 semapv:UnspecifiedMatching -orphanet.ordo:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref UMLS:C1852454 semapv:UnspecifiedMatching -orphanet.ordo:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1549 NON RARE IN EUROPE: Cryptosporidiosis oboInOwl:hasDbXref ICD10:A07.2 semapv:UnspecifiedMatching -orphanet.ordo:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.1 semapv:UnspecifiedMatching -orphanet.ordo:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.2 semapv:UnspecifiedMatching -orphanet.ordo:1551 Familial benign copper deficiency oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching -orphanet.ordo:1551 Familial benign copper deficiency oboInOwl:hasDbXref MESH:C535468 semapv:UnspecifiedMatching -orphanet.ordo:1551 Familial benign copper deficiency oboInOwl:hasDbXref MeSH:C535468 semapv:UnspecifiedMatching -orphanet.ordo:1551 Familial benign copper deficiency oboInOwl:hasDbXref OMIM:121270 semapv:UnspecifiedMatching -orphanet.ordo:1551 Familial benign copper deficiency oboInOwl:hasDbXref UMLS:C1852576 semapv:UnspecifiedMatching -orphanet.ordo:1552 Currarino syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1552 Currarino syndrome oboInOwl:hasDbXref MESH:C536221 semapv:UnspecifiedMatching -orphanet.ordo:1552 Currarino syndrome oboInOwl:hasDbXref MeSH:C536221 semapv:UnspecifiedMatching -orphanet.ordo:1552 Currarino syndrome oboInOwl:hasDbXref OMIM:176450 semapv:UnspecifiedMatching -orphanet.ordo:1552 Currarino syndrome oboInOwl:hasDbXref UMLS:C1531773 semapv:UnspecifiedMatching -orphanet.ordo:1553 Curry-Jones syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1553 Curry-Jones syndrome oboInOwl:hasDbXref OMIM:601707 semapv:UnspecifiedMatching -orphanet.ordo:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref OMIM:123790 semapv:UnspecifiedMatching -orphanet.ordo:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1852406 semapv:UnspecifiedMatching -orphanet.ordo:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref MESH:C536226 semapv:UnspecifiedMatching -orphanet.ordo:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref MeSH:C536226 semapv:UnspecifiedMatching -orphanet.ordo:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref OMIM:219250 semapv:UnspecifiedMatching -orphanet.ordo:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref UMLS:C0345419 semapv:UnspecifiedMatching -orphanet.ordo:1557 Cutis verticis gyrata-intellectual disability syndrome oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching -orphanet.ordo:155838 Pinnae fistula or cyst oboInOwl:hasDbXref ICD10:Q18.1 semapv:UnspecifiedMatching -orphanet.ordo:155878 Submucosal cleft palate oboInOwl:hasDbXref ICD10:Q35.9 semapv:UnspecifiedMatching -orphanet.ordo:155884 Coloboma of superior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:155889 Coloboma of inferior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MESH:D008342 semapv:UnspecifiedMatching -orphanet.ordo:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MeSH:D008342 semapv:UnspecifiedMatching -orphanet.ordo:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MedDRA:10051456 semapv:UnspecifiedMatching -orphanet.ordo:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref UMLS:C0242387 semapv:UnspecifiedMatching -orphanet.ordo:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref OMIM:255120 semapv:UnspecifiedMatching -orphanet.ordo:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref UMLS:C1829703 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.0 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.1 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.8 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.9 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref MESH:D003551 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref MeSH:D003551 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref MedDRA:10011775 semapv:UnspecifiedMatching -orphanet.ordo:1560 Cysticercosis oboInOwl:hasDbXref UMLS:C0010678 semapv:UnspecifiedMatching -orphanet.ordo:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:604377 semapv:UnspecifiedMatching -orphanet.ordo:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:615119 semapv:UnspecifiedMatching -orphanet.ordo:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616500 semapv:UnspecifiedMatching -orphanet.ordo:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616501 semapv:UnspecifiedMatching -orphanet.ordo:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C1858424 semapv:UnspecifiedMatching -orphanet.ordo:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref MESH:D056648 semapv:UnspecifiedMatching -orphanet.ordo:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref MeSH:D056648 semapv:UnspecifiedMatching -orphanet.ordo:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref UMLS:C2717865 semapv:UnspecifiedMatching -orphanet.ordo:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref MESH:C536061 semapv:UnspecifiedMatching -orphanet.ordo:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref MeSH:C536061 semapv:UnspecifiedMatching -orphanet.ordo:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref OMIM:166705 semapv:UnspecifiedMatching -orphanet.ordo:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref UMLS:C1833698 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref MESH:C531735 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref MESH:D008260 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref MeSH:C531735 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref MeSH:D008260 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref MedDRA:10025391 semapv:UnspecifiedMatching -orphanet.ordo:156207 Macroglossia oboInOwl:hasDbXref UMLS:C0009677 semapv:UnspecifiedMatching -orphanet.ordo:156212 Hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching -orphanet.ordo:156249 Larynx anomaly oboInOwl:hasDbXref ICD10:Q31 semapv:UnspecifiedMatching -orphanet.ordo:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref MESH:C535769 semapv:UnspecifiedMatching -orphanet.ordo:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref MeSH:C535769 semapv:UnspecifiedMatching -orphanet.ordo:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref OMIM:247410 semapv:UnspecifiedMatching -orphanet.ordo:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref UMLS:C1855477 semapv:UnspecifiedMatching -orphanet.ordo:1564 Dandy-Walker malformation-facial hemangioma syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching -orphanet.ordo:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref MESH:C535771 semapv:UnspecifiedMatching -orphanet.ordo:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref MeSH:C535771 semapv:UnspecifiedMatching -orphanet.ordo:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:220220 semapv:UnspecifiedMatching -orphanet.ordo:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C1857351 semapv:UnspecifiedMatching -orphanet.ordo:156723 Piepkorn dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:156723 Piepkorn dysplasia oboInOwl:hasDbXref UMLS:C0432201 semapv:UnspecifiedMatching -orphanet.ordo:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref OMIM:608728 semapv:UnspecifiedMatching -orphanet.ordo:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref UMLS:C1837481 semapv:UnspecifiedMatching -orphanet.ordo:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref MESH:C537999 semapv:UnspecifiedMatching -orphanet.ordo:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref MeSH:C537999 semapv:UnspecifiedMatching -orphanet.ordo:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref OMIM:224400 semapv:UnspecifiedMatching -orphanet.ordo:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref UMLS:C0432209 semapv:UnspecifiedMatching -orphanet.ordo:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching -orphanet.ordo:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref UMLS:C0796254 semapv:UnspecifiedMatching -orphanet.ordo:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref MESH:C535992 semapv:UnspecifiedMatching -orphanet.ordo:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref MeSH:C535992 semapv:UnspecifiedMatching -orphanet.ordo:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref OMIM:278800 semapv:UnspecifiedMatching -orphanet.ordo:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref UMLS:C0265201 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MESH:C535589 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MeSH:C535589 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching -orphanet.ordo:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS:C0342790 semapv:UnspecifiedMatching -orphanet.ordo:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref UMLS:C2931719 semapv:UnspecifiedMatching -orphanet.ordo:1571 Knobloch syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:1571 Knobloch syndrome oboInOwl:hasDbXref MESH:C537209 semapv:UnspecifiedMatching -orphanet.ordo:1571 Knobloch syndrome oboInOwl:hasDbXref MeSH:C537209 semapv:UnspecifiedMatching -orphanet.ordo:1571 Knobloch syndrome oboInOwl:hasDbXref OMIM:267750 semapv:UnspecifiedMatching -orphanet.ordo:1571 Knobloch syndrome oboInOwl:hasDbXref OMIM:618458 semapv:UnspecifiedMatching -orphanet.ordo:1571 Knobloch syndrome oboInOwl:hasDbXref UMLS:C1849409 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.0 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.1 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.2 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.8 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.9 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref MESH:D017074 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref MeSH:D017074 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref MedDRA:10021449 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:146830 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:240500 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:607594 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613493 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613494 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613495 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613496 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:614699 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:615577 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:616576 semapv:UnspecifiedMatching -orphanet.ordo:1572 Common variable immunodeficiency oboInOwl:hasDbXref UMLS:C0009447 semapv:UnspecifiedMatching -orphanet.ordo:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref OMIM:241530 semapv:UnspecifiedMatching -orphanet.ordo:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref UMLS:C1853271 semapv:UnspecifiedMatching -orphanet.ordo:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching -orphanet.ordo:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref OMIM:601553 semapv:UnspecifiedMatching -orphanet.ordo:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref UMLS:C1832162 semapv:UnspecifiedMatching -orphanet.ordo:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref OMIM:267760 semapv:UnspecifiedMatching -orphanet.ordo:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref UMLS:C2931831 semapv:UnspecifiedMatching -orphanet.ordo:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching -orphanet.ordo:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching -orphanet.ordo:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C0795996 semapv:UnspecifiedMatching -orphanet.ordo:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -orphanet.ordo:157716 Late infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:157716 Late infantile CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -orphanet.ordo:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -orphanet.ordo:157769 Situs ambiguus oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching -orphanet.ordo:157769 Situs ambiguus oboInOwl:hasDbXref MedDRA:10059119 semapv:UnspecifiedMatching -orphanet.ordo:157769 Situs ambiguus oboInOwl:hasDbXref UMLS:C0266642 semapv:UnspecifiedMatching -orphanet.ordo:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching -orphanet.ordo:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref UMLS:C1863870 semapv:UnspecifiedMatching -orphanet.ordo:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -orphanet.ordo:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref MESH:D018323 semapv:UnspecifiedMatching -orphanet.ordo:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref MeSH:D018323 semapv:UnspecifiedMatching -orphanet.ordo:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref UMLS:C0206732 semapv:UnspecifiedMatching -orphanet.ordo:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref OMIM:601228 semapv:UnspecifiedMatching -orphanet.ordo:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref OMIM:610069 semapv:UnspecifiedMatching -orphanet.ordo:157798 Serrated polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:157798 Serrated polyposis syndrome oboInOwl:hasDbXref OMIM:617108 semapv:UnspecifiedMatching -orphanet.ordo:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching -orphanet.ordo:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref UMLS:C1849700 semapv:UnspecifiedMatching -orphanet.ordo:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref OMIM:609432 semapv:UnspecifiedMatching -orphanet.ordo:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref UMLS:C1836206 semapv:UnspecifiedMatching -orphanet.ordo:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref UMLS:C5190522 semapv:UnspecifiedMatching -orphanet.ordo:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching -orphanet.ordo:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:610313 semapv:UnspecifiedMatching -orphanet.ordo:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:617055 semapv:UnspecifiedMatching -orphanet.ordo:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MESH:D020232 semapv:UnspecifiedMatching -orphanet.ordo:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MeSH:D020232 semapv:UnspecifiedMatching -orphanet.ordo:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MedDRA:10066431 semapv:UnspecifiedMatching -orphanet.ordo:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref UMLS:C0270707 semapv:UnspecifiedMatching -orphanet.ordo:157826 Congenital epulis oboInOwl:hasDbXref ICD10:K06.8 semapv:UnspecifiedMatching -orphanet.ordo:157826 Congenital epulis oboInOwl:hasDbXref UMLS:C0376319 semapv:UnspecifiedMatching -orphanet.ordo:157832 Craniorhiny oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:157832 Craniorhiny oboInOwl:hasDbXref OMIM:123050 semapv:UnspecifiedMatching -orphanet.ordo:157832 Craniorhiny oboInOwl:hasDbXref UMLS:C1852501 semapv:UnspecifiedMatching -orphanet.ordo:157835 Paroxysmal hemicrania oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching -orphanet.ordo:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MESH:D051302 semapv:UnspecifiedMatching -orphanet.ordo:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MeSH:D051302 semapv:UnspecifiedMatching -orphanet.ordo:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MedDRA:10019461 semapv:UnspecifiedMatching -orphanet.ordo:157835 Paroxysmal hemicrania oboInOwl:hasDbXref UMLS:C1399352 semapv:UnspecifiedMatching -orphanet.ordo:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref MESH:D051303 semapv:UnspecifiedMatching -orphanet.ordo:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref MeSH:D051303 semapv:UnspecifiedMatching -orphanet.ordo:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref UMLS:C1565172 semapv:UnspecifiedMatching -orphanet.ordo:157846 Neuroferritinopathy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:157846 Neuroferritinopathy oboInOwl:hasDbXref MESH:C548080 semapv:UnspecifiedMatching -orphanet.ordo:157846 Neuroferritinopathy oboInOwl:hasDbXref MeSH:C548080 semapv:UnspecifiedMatching -orphanet.ordo:157846 Neuroferritinopathy oboInOwl:hasDbXref OMIM:606159 semapv:UnspecifiedMatching -orphanet.ordo:157846 Neuroferritinopathy oboInOwl:hasDbXref UMLS:C1853578 semapv:UnspecifiedMatching -orphanet.ordo:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 semapv:UnspecifiedMatching -orphanet.ordo:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MeSH:D006211 semapv:UnspecifiedMatching -orphanet.ordo:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching -orphanet.ordo:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C0018523 semapv:UnspecifiedMatching -orphanet.ordo:157855 HARP syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:157855 HARP syndrome oboInOwl:hasDbXref OMIM:607236 semapv:UnspecifiedMatching -orphanet.ordo:157855 HARP syndrome oboInOwl:hasDbXref UMLS:C1846582 semapv:UnspecifiedMatching -orphanet.ordo:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:157941 Huntington disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching -orphanet.ordo:157941 Huntington disease-like 1 oboInOwl:hasDbXref UMLS:C1864112 semapv:UnspecifiedMatching -orphanet.ordo:157946 Huntington disease-like 3 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:157946 Huntington disease-like 3 oboInOwl:hasDbXref OMIM:604802 semapv:UnspecifiedMatching -orphanet.ordo:157946 Huntington disease-like 3 oboInOwl:hasDbXref UMLS:C1858114 semapv:UnspecifiedMatching -orphanet.ordo:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref OMIM:233650 semapv:UnspecifiedMatching -orphanet.ordo:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref UMLS:C2673536 semapv:UnspecifiedMatching -orphanet.ordo:157954 ANE syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:157954 ANE syndrome oboInOwl:hasDbXref OMIM:612079 semapv:UnspecifiedMatching -orphanet.ordo:157954 ANE syndrome oboInOwl:hasDbXref UMLS:C2677535 semapv:UnspecifiedMatching -orphanet.ordo:157962 Oculoauricular syndrome, Schorderet type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:157962 Oculoauricular syndrome, Schorderet type oboInOwl:hasDbXref OMIM:612109 semapv:UnspecifiedMatching -orphanet.ordo:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:612350 semapv:UnspecifiedMatching -orphanet.ordo:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2676510 semapv:UnspecifiedMatching -orphanet.ordo:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref OMIM:613205 semapv:UnspecifiedMatching -orphanet.ordo:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref UMLS:C2750785 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching -orphanet.ordo:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching -orphanet.ordo:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching -orphanet.ordo:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref MeSH:D015616 semapv:UnspecifiedMatching -orphanet.ordo:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019624 semapv:UnspecifiedMatching -orphanet.ordo:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref UMLS:C0347403 semapv:UnspecifiedMatching -orphanet.ordo:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref OMIM:212140 semapv:UnspecifiedMatching -orphanet.ordo:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref UMLS:C0342788 semapv:UnspecifiedMatching -orphanet.ordo:1580 Distal deletion 10p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1580 Distal deletion 10p oboInOwl:hasDbXref OMIM:601362 semapv:UnspecifiedMatching -orphanet.ordo:1580 Distal deletion 10p oboInOwl:hasDbXref UMLS:C1832431 semapv:UnspecifiedMatching -orphanet.ordo:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 semapv:UnspecifiedMatching -orphanet.ordo:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref MeSH:D014972 semapv:UnspecifiedMatching -orphanet.ordo:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref UMLS:C0043324 semapv:UnspecifiedMatching -orphanet.ordo:158003 Xanthoma disseminatum oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158003 Xanthoma disseminatum oboInOwl:hasDbXref MedDRA:10052575 semapv:UnspecifiedMatching -orphanet.ordo:158003 Xanthoma disseminatum oboInOwl:hasDbXref UMLS:C0043322 semapv:UnspecifiedMatching -orphanet.ordo:158008 Papular xanthoma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref MESH:D058252 semapv:UnspecifiedMatching -orphanet.ordo:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref MeSH:D058252 semapv:UnspecifiedMatching -orphanet.ordo:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref UMLS:C1275339 semapv:UnspecifiedMatching -orphanet.ordo:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MedDRA:10063397 semapv:UnspecifiedMatching -orphanet.ordo:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching -orphanet.ordo:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref OMIM:142630 semapv:UnspecifiedMatching -orphanet.ordo:158029 Sea-blue histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:158029 Sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching -orphanet.ordo:158029 Sea-blue histiocytosis oboInOwl:hasDbXref UMLS:C0036489 semapv:UnspecifiedMatching -orphanet.ordo:158032 Hemophagocytic syndrome oboInOwl:hasDbXref MedDRA:10058125 semapv:UnspecifiedMatching -orphanet.ordo:158032 Hemophagocytic syndrome oboInOwl:hasDbXref UMLS:C0024291 semapv:UnspecifiedMatching -orphanet.ordo:158038 Primary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MedDRA:10070904 semapv:UnspecifiedMatching -orphanet.ordo:158038 Primary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0272199 semapv:UnspecifiedMatching -orphanet.ordo:158041 Secondary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0019068 semapv:UnspecifiedMatching -orphanet.ordo:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref ICD10:D76.2 semapv:UnspecifiedMatching -orphanet.ordo:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref UMLS:C0019068 semapv:UnspecifiedMatching -orphanet.ordo:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching -orphanet.ordo:158061 Macrophage activation syndrome oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching -orphanet.ordo:158061 Macrophage activation syndrome oboInOwl:hasDbXref MESH:D055501 semapv:UnspecifiedMatching -orphanet.ordo:158061 Macrophage activation syndrome oboInOwl:hasDbXref MeSH:D055501 semapv:UnspecifiedMatching -orphanet.ordo:158061 Macrophage activation syndrome oboInOwl:hasDbXref MedDRA:10053867 semapv:UnspecifiedMatching -orphanet.ordo:158061 Macrophage activation syndrome oboInOwl:hasDbXref UMLS:C1096155 semapv:UnspecifiedMatching -orphanet.ordo:1581 Non-distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:158266 Huntington disease-like syndrome oboInOwl:hasDbXref UMLS:C3711380 semapv:UnspecifiedMatching -orphanet.ordo:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref MESH:C536183 semapv:UnspecifiedMatching -orphanet.ordo:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref MeSH:C536183 semapv:UnspecifiedMatching -orphanet.ordo:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref OMIM:604536 semapv:UnspecifiedMatching -orphanet.ordo:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref UMLS:C1858302 semapv:UnspecifiedMatching -orphanet.ordo:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:158676 Localized dystrophic epidermolysis bullosa, nails only oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref OMIM:609352 semapv:UnspecifiedMatching -orphanet.ordo:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref UMLS:C1836284 semapv:UnspecifiedMatching -orphanet.ordo:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref OMIM:612138 semapv:UnspecifiedMatching -orphanet.ordo:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref UMLS:C2677349 semapv:UnspecifiedMatching -orphanet.ordo:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref MESH:C535493 semapv:UnspecifiedMatching -orphanet.ordo:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref MeSH:C535493 semapv:UnspecifiedMatching -orphanet.ordo:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref OMIM:609638 semapv:UnspecifiedMatching -orphanet.ordo:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref UMLS:C1864826 semapv:UnspecifiedMatching -orphanet.ordo:1587 Monosomy 13q14 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1587 Monosomy 13q14 oboInOwl:hasDbXref OMIM:613884 semapv:UnspecifiedMatching -orphanet.ordo:158766 Typical urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:158769 Plaque-form urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching -orphanet.ordo:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching -orphanet.ordo:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 semapv:UnspecifiedMatching -orphanet.ordo:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS:C0342791 semapv:UnspecifiedMatching -orphanet.ordo:1590 Distal deletion 13q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1590 Distal deletion 13q oboInOwl:hasDbXref OMIM:602553 semapv:UnspecifiedMatching -orphanet.ordo:1596 Distal deletion 15q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1596 Distal deletion 15q oboInOwl:hasDbXref OMIM:612626 semapv:UnspecifiedMatching -orphanet.ordo:1596 Distal deletion 15q oboInOwl:hasDbXref UMLS:C2675463 semapv:UnspecifiedMatching -orphanet.ordo:1597 Distal deletion 17q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1598 Monosomy 18p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1598 Monosomy 18p oboInOwl:hasDbXref OMIM:146390 semapv:UnspecifiedMatching -orphanet.ordo:1598 Monosomy 18p oboInOwl:hasDbXref UMLS:C0432442 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref MESH:C536238 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref MESH:C538165 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref MeSH:C536238 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref MeSH:C538165 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching -orphanet.ordo:16 Blue cone monochromatism oboInOwl:hasDbXref UMLS:C2931753 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref MESH:C536362 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref MESH:D005871 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref MeSH:C536362 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref MeSH:D005871 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref MedDRA:10050251 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref OMIM:148000 semapv:UnspecifiedMatching -orphanet.ordo:160 Castleman disease oboInOwl:hasDbXref UMLS:C0017531 semapv:UnspecifiedMatching -orphanet.ordo:1600 Monosomy 18q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1600 Monosomy 18q oboInOwl:hasDbXref OMIM:601808 semapv:UnspecifiedMatching -orphanet.ordo:1600 Monosomy 18q oboInOwl:hasDbXref UMLS:C0432443 semapv:UnspecifiedMatching -orphanet.ordo:1600 Monosomy 18q oboInOwl:hasDbXref UMLS:C2931249 semapv:UnspecifiedMatching -orphanet.ordo:160148 Cap polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:1606 1p36 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching -orphanet.ordo:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching -orphanet.ordo:1606 1p36 deletion syndrome oboInOwl:hasDbXref UMLS:C1842870 semapv:UnspecifiedMatching -orphanet.ordo:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref MESH:C538316 semapv:UnspecifiedMatching -orphanet.ordo:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref MeSH:C538316 semapv:UnspecifiedMatching -orphanet.ordo:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931816 semapv:UnspecifiedMatching -orphanet.ordo:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:1620 Distal deletion 3p oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1620 Distal deletion 3p oboInOwl:hasDbXref OMIM:613792 semapv:UnspecifiedMatching -orphanet.ordo:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref MESH:C536808 semapv:UnspecifiedMatching -orphanet.ordo:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref MeSH:C536808 semapv:UnspecifiedMatching -orphanet.ordo:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref OMIM:615433 semapv:UnspecifiedMatching -orphanet.ordo:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931338 semapv:UnspecifiedMatching -orphanet.ordo:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref ICD10:Q16.3 semapv:UnspecifiedMatching -orphanet.ordo:1627 Deletion 5q35 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching -orphanet.ordo:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 semapv:UnspecifiedMatching -orphanet.ordo:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MeSH:C538137 semapv:UnspecifiedMatching -orphanet.ordo:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 semapv:UnspecifiedMatching -orphanet.ordo:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS:C1833213 semapv:UnspecifiedMatching -orphanet.ordo:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.1 semapv:UnspecifiedMatching -orphanet.ordo:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057903 semapv:UnspecifiedMatching -orphanet.ordo:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C0024140 semapv:UnspecifiedMatching -orphanet.ordo:163531 Chronic cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057929 semapv:UnspecifiedMatching -orphanet.ordo:163582 Rare bacterial infectious disease oboInOwl:hasDbXref UMLS:C0004623 semapv:UnspecifiedMatching -orphanet.ordo:163591 Rare mycosis oboInOwl:hasDbXref UMLS:C0026946 semapv:UnspecifiedMatching -orphanet.ordo:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching -orphanet.ordo:1636 Distal monosomy 7q36 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:163634 Maffucci syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:163634 Maffucci syndrome oboInOwl:hasDbXref OMIM:614569 semapv:UnspecifiedMatching -orphanet.ordo:163634 Maffucci syndrome oboInOwl:hasDbXref UMLS:C0024454 semapv:UnspecifiedMatching -orphanet.ordo:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:602611 semapv:UnspecifiedMatching -orphanet.ordo:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching -orphanet.ordo:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1865134 semapv:UnspecifiedMatching -orphanet.ordo:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching -orphanet.ordo:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref UMLS:C2673649 semapv:UnspecifiedMatching -orphanet.ordo:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref OMIM:600561 semapv:UnspecifiedMatching -orphanet.ordo:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref UMLS:C1833603 semapv:UnspecifiedMatching -orphanet.ordo:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref OMIM:271620 semapv:UnspecifiedMatching -orphanet.ordo:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref UMLS:C1849053 semapv:UnspecifiedMatching -orphanet.ordo:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref OMIM:184000 semapv:UnspecifiedMatching -orphanet.ordo:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref UMLS:C1866719 semapv:UnspecifiedMatching -orphanet.ordo:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref OMIM:183850 semapv:UnspecifiedMatching -orphanet.ordo:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref UMLS:C1866727 semapv:UnspecifiedMatching -orphanet.ordo:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref OMIM:610042 semapv:UnspecifiedMatching -orphanet.ordo:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C1864887 semapv:UnspecifiedMatching -orphanet.ordo:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref OMIM:613724 semapv:UnspecifiedMatching -orphanet.ordo:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching -orphanet.ordo:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref UMLS:C1848030 semapv:UnspecifiedMatching -orphanet.ordo:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching -orphanet.ordo:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref OMIM:254900 semapv:UnspecifiedMatching -orphanet.ordo:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref UMLS:C0751779 semapv:UnspecifiedMatching -orphanet.ordo:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MESH:D018234 semapv:UnspecifiedMatching -orphanet.ordo:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MeSH:D018234 semapv:UnspecifiedMatching -orphanet.ordo:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MedDRA:10001882 semapv:UnspecifiedMatching -orphanet.ordo:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref OMIM:606243 semapv:UnspecifiedMatching -orphanet.ordo:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref UMLS:C0206657 semapv:UnspecifiedMatching -orphanet.ordo:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611630 semapv:UnspecifiedMatching -orphanet.ordo:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:614417 semapv:UnspecifiedMatching -orphanet.ordo:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:615697 semapv:UnspecifiedMatching -orphanet.ordo:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching -orphanet.ordo:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref OMIM:300643 semapv:UnspecifiedMatching -orphanet.ordo:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref MESH:C535499 semapv:UnspecifiedMatching -orphanet.ordo:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref MeSH:C535499 semapv:UnspecifiedMatching -orphanet.ordo:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref OMIM:608105 semapv:UnspecifiedMatching -orphanet.ordo:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref UMLS:C1842531 semapv:UnspecifiedMatching -orphanet.ordo:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref OMIM:609136 semapv:UnspecifiedMatching -orphanet.ordo:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref UMLS:C1836727 semapv:UnspecifiedMatching -orphanet.ordo:163921 Posttransplant acute limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref ICD10:L40.3 semapv:UnspecifiedMatching -orphanet.ordo:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref MedDRA:10050185 semapv:UnspecifiedMatching -orphanet.ordo:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref UMLS:C0030246 semapv:UnspecifiedMatching -orphanet.ordo:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref ICD10:L40.2 semapv:UnspecifiedMatching -orphanet.ordo:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching -orphanet.ordo:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10069664 semapv:UnspecifiedMatching -orphanet.ordo:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C1274788 semapv:UnspecifiedMatching -orphanet.ordo:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref OMIM:300749 semapv:UnspecifiedMatching -orphanet.ordo:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref UMLS:C2677903 semapv:UnspecifiedMatching -orphanet.ordo:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching -orphanet.ordo:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref OMIM:300860 semapv:UnspecifiedMatching -orphanet.ordo:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref OMIM:300864 semapv:UnspecifiedMatching -orphanet.ordo:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref OMIM:300863 semapv:UnspecifiedMatching -orphanet.ordo:163971 X-linked intellectual disability, Cilliers type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref OMIM:301030 semapv:UnspecifiedMatching -orphanet.ordo:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref OMIM:300712 semapv:UnspecifiedMatching -orphanet.ordo:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref OMIM:309640 semapv:UnspecifiedMatching -orphanet.ordo:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching -orphanet.ordo:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref UMLS:C1845102 semapv:UnspecifiedMatching -orphanet.ordo:164 NON RARE IN EUROPE: Cerebral cavernous malformations oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -orphanet.ordo:164004 Middle and/or inner ear anomaly oboInOwl:hasDbXref MedDRA:10060957 semapv:UnspecifiedMatching -orphanet.ordo:164004 Middle and/or inner ear anomaly oboInOwl:hasDbXref UMLS:C0266599 semapv:UnspecifiedMatching -orphanet.ordo:1642 Distal deletion 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:1646 Partial chromosome Y deletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -orphanet.ordo:1646 Partial chromosome Y deletion oboInOwl:hasDbXref MESH:C536297 semapv:UnspecifiedMatching -orphanet.ordo:1646 Partial chromosome Y deletion oboInOwl:hasDbXref MeSH:C536297 semapv:UnspecifiedMatching -orphanet.ordo:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:400042 semapv:UnspecifiedMatching -orphanet.ordo:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching -orphanet.ordo:1646 Partial chromosome Y deletion oboInOwl:hasDbXref UMLS:C1507149 semapv:UnspecifiedMatching -orphanet.ordo:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref MESH:C538088 semapv:UnspecifiedMatching -orphanet.ordo:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref MeSH:C538088 semapv:UnspecifiedMatching -orphanet.ordo:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref OMIM:164180 semapv:UnspecifiedMatching -orphanet.ordo:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref UMLS:C0796092 semapv:UnspecifiedMatching -orphanet.ordo:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching -orphanet.ordo:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:604348 semapv:UnspecifiedMatching -orphanet.ordo:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:615224 semapv:UnspecifiedMatching -orphanet.ordo:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:616882 semapv:UnspecifiedMatching -orphanet.ordo:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:620015 semapv:UnspecifiedMatching -orphanet.ordo:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref UMLS:C1858496 semapv:UnspecifiedMatching -orphanet.ordo:1648 NON RARE IN EUROPE: Dementia with Lewy body oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:165 Neutral lipid storage disease oboInOwl:hasDbXref MESH:C536560 semapv:UnspecifiedMatching -orphanet.ordo:165 Neutral lipid storage disease oboInOwl:hasDbXref MeSH:C536560 semapv:UnspecifiedMatching -orphanet.ordo:165 Neutral lipid storage disease oboInOwl:hasDbXref UMLS:C0268238 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref MESH:C545036 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref MESH:D057973 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref MeSH:C545036 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref MeSH:D057973 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref MedDRA:10069199 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref OMIM:300554 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref OMIM:308990 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref OMIM:310468 semapv:UnspecifiedMatching -orphanet.ordo:1652 Dent disease oboInOwl:hasDbXref UMLS:C0878681 semapv:UnspecifiedMatching -orphanet.ordo:1653 Dentin dysplasia oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:1653 Dentin dysplasia oboInOwl:hasDbXref MESH:D003805 semapv:UnspecifiedMatching -orphanet.ordo:1653 Dentin dysplasia oboInOwl:hasDbXref MeSH:D003805 semapv:UnspecifiedMatching -orphanet.ordo:1653 Dentin dysplasia oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching -orphanet.ordo:1653 Dentin dysplasia oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching -orphanet.ordo:1653 Dentin dysplasia oboInOwl:hasDbXref UMLS:C0011430 semapv:UnspecifiedMatching -orphanet.ordo:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref OMIM:235255 semapv:UnspecifiedMatching -orphanet.ordo:1656 Dermatitis herpetiformis oboInOwl:hasDbXref ICD10:L13.0 semapv:UnspecifiedMatching -orphanet.ordo:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MESH:D003874 semapv:UnspecifiedMatching -orphanet.ordo:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MeSH:D003874 semapv:UnspecifiedMatching -orphanet.ordo:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MedDRA:10012468 semapv:UnspecifiedMatching -orphanet.ordo:1656 Dermatitis herpetiformis oboInOwl:hasDbXref OMIM:601230 semapv:UnspecifiedMatching -orphanet.ordo:1656 Dermatitis herpetiformis oboInOwl:hasDbXref UMLS:C0011608 semapv:UnspecifiedMatching -orphanet.ordo:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref MESH:C535373 semapv:UnspecifiedMatching -orphanet.ordo:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref MeSH:C535373 semapv:UnspecifiedMatching -orphanet.ordo:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref OMIM:221810 semapv:UnspecifiedMatching -orphanet.ordo:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref UMLS:C1857301 semapv:UnspecifiedMatching -orphanet.ordo:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref OMIM:129200 semapv:UnspecifiedMatching -orphanet.ordo:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref UMLS:C0406707 semapv:UnspecifiedMatching -orphanet.ordo:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref OMIM:614418 semapv:UnspecifiedMatching -orphanet.ordo:1659 Dermatoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:1659 Dermatoleukodystrophy oboInOwl:hasDbXref MESH:C538220 semapv:UnspecifiedMatching -orphanet.ordo:1659 Dermatoleukodystrophy oboInOwl:hasDbXref MeSH:C538220 semapv:UnspecifiedMatching -orphanet.ordo:1659 Dermatoleukodystrophy oboInOwl:hasDbXref OMIM:221790 semapv:UnspecifiedMatching -orphanet.ordo:1659 Dermatoleukodystrophy oboInOwl:hasDbXref UMLS:C1857314 semapv:UnspecifiedMatching -orphanet.ordo:165955 Wound myiasis oboInOwl:hasDbXref ICD10:B87.1 semapv:UnspecifiedMatching -orphanet.ordo:165955 Wound myiasis oboInOwl:hasDbXref UMLS:C0344061 semapv:UnspecifiedMatching -orphanet.ordo:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 semapv:UnspecifiedMatching -orphanet.ordo:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref OMIM:610021 semapv:UnspecifiedMatching -orphanet.ordo:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref UMLS:C1864902 semapv:UnspecifiedMatching -orphanet.ordo:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -orphanet.ordo:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching -orphanet.ordo:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref UMLS:C1840364 semapv:UnspecifiedMatching -orphanet.ordo:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching -orphanet.ordo:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MeSH:D002607 semapv:UnspecifiedMatching -orphanet.ordo:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MedDRA:10034699 semapv:UnspecifiedMatching -orphanet.ordo:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C0007959 semapv:UnspecifiedMatching -orphanet.ordo:1660 Dermoodontodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1660 Dermoodontodysplasia oboInOwl:hasDbXref OMIM:125640 semapv:UnspecifiedMatching -orphanet.ordo:1660 Dermoodontodysplasia oboInOwl:hasDbXref UMLS:C1852144 semapv:UnspecifiedMatching -orphanet.ordo:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600204 semapv:UnspecifiedMatching -orphanet.ordo:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600969 semapv:UnspecifiedMatching -orphanet.ordo:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching -orphanet.ordo:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref OMIM:132450 semapv:UnspecifiedMatching -orphanet.ordo:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref UMLS:C1851536 semapv:UnspecifiedMatching -orphanet.ordo:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref OMIM:601560 semapv:UnspecifiedMatching -orphanet.ordo:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref UMLS:C1832112 semapv:UnspecifiedMatching -orphanet.ordo:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref OMIM:607131 semapv:UnspecifiedMatching -orphanet.ordo:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref UMLS:C1846722 semapv:UnspecifiedMatching -orphanet.ordo:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref OMIM:609324 semapv:UnspecifiedMatching -orphanet.ordo:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref UMLS:C1836315 semapv:UnspecifiedMatching -orphanet.ordo:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref OMIM:609325 semapv:UnspecifiedMatching -orphanet.ordo:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref UMLS:C1836307 semapv:UnspecifiedMatching -orphanet.ordo:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:250410 semapv:UnspecifiedMatching -orphanet.ordo:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C1855188 semapv:UnspecifiedMatching -orphanet.ordo:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref OMIM:250230 semapv:UnspecifiedMatching -orphanet.ordo:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref UMLS:C1855217 semapv:UnspecifiedMatching -orphanet.ordo:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref MESH:C536716 semapv:UnspecifiedMatching -orphanet.ordo:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref MeSH:C536716 semapv:UnspecifiedMatching -orphanet.ordo:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref OMIM:225753 semapv:UnspecifiedMatching -orphanet.ordo:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref UMLS:C1856974 semapv:UnspecifiedMatching -orphanet.ordo:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref OMIM:610204 semapv:UnspecifiedMatching -orphanet.ordo:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref UMLS:C1857762 semapv:UnspecifiedMatching -orphanet.ordo:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref MESH:C548074 semapv:UnspecifiedMatching -orphanet.ordo:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref MeSH:C548074 semapv:UnspecifiedMatching -orphanet.ordo:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref OMIM:611523 semapv:UnspecifiedMatching -orphanet.ordo:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref UMLS:C1969084 semapv:UnspecifiedMatching -orphanet.ordo:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref MESH:D056725 semapv:UnspecifiedMatching -orphanet.ordo:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref MeSH:D056725 semapv:UnspecifiedMatching -orphanet.ordo:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching -orphanet.ordo:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref UMLS:C1264039 semapv:UnspecifiedMatching -orphanet.ordo:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching -orphanet.ordo:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref MeSH:D056728 semapv:UnspecifiedMatching -orphanet.ordo:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching -orphanet.ordo:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref UMLS:C1264040 semapv:UnspecifiedMatching -orphanet.ordo:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching -orphanet.ordo:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref UMLS:C1282968 semapv:UnspecifiedMatching -orphanet.ordo:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching -orphanet.ordo:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref UMLS:C1282971 semapv:UnspecifiedMatching -orphanet.ordo:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching -orphanet.ordo:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref UMLS:C1282974 semapv:UnspecifiedMatching -orphanet.ordo:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching -orphanet.ordo:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref UMLS:C1282975 semapv:UnspecifiedMatching -orphanet.ordo:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref MESH:D056729 semapv:UnspecifiedMatching -orphanet.ordo:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref MeSH:D056729 semapv:UnspecifiedMatching -orphanet.ordo:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching -orphanet.ordo:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref UMLS:C1264041 semapv:UnspecifiedMatching -orphanet.ordo:1661 X-linked corneal dermoid oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching -orphanet.ordo:1661 X-linked corneal dermoid oboInOwl:hasDbXref OMIM:304730 semapv:UnspecifiedMatching -orphanet.ordo:1661 X-linked corneal dermoid oboInOwl:hasDbXref UMLS:C1844671 semapv:UnspecifiedMatching -orphanet.ordo:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref MESH:C537494 semapv:UnspecifiedMatching -orphanet.ordo:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref MeSH:C537494 semapv:UnspecifiedMatching -orphanet.ordo:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching -orphanet.ordo:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref UMLS:C1861481 semapv:UnspecifiedMatching -orphanet.ordo:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:618855 semapv:UnspecifiedMatching -orphanet.ordo:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref OMIM:612292 semapv:UnspecifiedMatching -orphanet.ordo:166113 Bazex syndrome oboInOwl:hasDbXref ICD10:L44.8 semapv:UnspecifiedMatching -orphanet.ordo:166113 Bazex syndrome oboInOwl:hasDbXref UMLS:C0406355 semapv:UnspecifiedMatching -orphanet.ordo:166119 Isolated osteopoikilosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:166119 Isolated osteopoikilosis oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching -orphanet.ordo:166119 Isolated osteopoikilosis oboInOwl:hasDbXref UMLS:C1833699 semapv:UnspecifiedMatching -orphanet.ordo:1662 Restrictive dermopathy oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:275210 semapv:UnspecifiedMatching -orphanet.ordo:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:619793 semapv:UnspecifiedMatching -orphanet.ordo:1662 Restrictive dermopathy oboInOwl:hasDbXref UMLS:C0406585 semapv:UnspecifiedMatching -orphanet.ordo:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:125490 semapv:UnspecifiedMatching -orphanet.ordo:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:605594 semapv:UnspecifiedMatching -orphanet.ordo:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref UMLS:C2973527 semapv:UnspecifiedMatching -orphanet.ordo:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:125500 semapv:UnspecifiedMatching -orphanet.ordo:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0399378 semapv:UnspecifiedMatching -orphanet.ordo:166272 Odontochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:166272 Odontochondrodysplasia oboInOwl:hasDbXref OMIM:184260 semapv:UnspecifiedMatching -orphanet.ordo:166272 Odontochondrodysplasia oboInOwl:hasDbXref UMLS:C2745953 semapv:UnspecifiedMatching -orphanet.ordo:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref OMIM:604922 semapv:UnspecifiedMatching -orphanet.ordo:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref UMLS:C1858032 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref ICD10:I49.5 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MESH:D012804 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MeSH:D012804 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MedDRA:10040639 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:163800 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:182190 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:608567 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:614090 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:619464 semapv:UnspecifiedMatching -orphanet.ordo:166282 Familial sick sinus syndrome oboInOwl:hasDbXref UMLS:C0037052 semapv:UnspecifiedMatching -orphanet.ordo:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref UMLS:C0473579 semapv:UnspecifiedMatching -orphanet.ordo:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 semapv:UnspecifiedMatching -orphanet.ordo:166291 Dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching -orphanet.ordo:166291 Dirofilariasis oboInOwl:hasDbXref MeSH:D004184 semapv:UnspecifiedMatching -orphanet.ordo:166291 Dirofilariasis oboInOwl:hasDbXref UMLS:C0012602 semapv:UnspecifiedMatching -orphanet.ordo:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching -orphanet.ordo:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref ICD10:G40.1 semapv:UnspecifiedMatching -orphanet.ordo:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:166409 Photosensitive epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 semapv:UnspecifiedMatching -orphanet.ordo:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609572 semapv:UnspecifiedMatching -orphanet.ordo:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609573 semapv:UnspecifiedMatching -orphanet.ordo:166409 Photosensitive epilepsy oboInOwl:hasDbXref UMLS:C0393720 semapv:UnspecifiedMatching -orphanet.ordo:166412 Hot water reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613339 semapv:UnspecifiedMatching -orphanet.ordo:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613340 semapv:UnspecifiedMatching -orphanet.ordo:166415 Audiogenic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166415 Audiogenic seizures oboInOwl:hasDbXref UMLS:C0751791 semapv:UnspecifiedMatching -orphanet.ordo:166418 Eating reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166418 Eating reflex epilepsy oboInOwl:hasDbXref UMLS:C0393725 semapv:UnspecifiedMatching -orphanet.ordo:166421 Orgasm-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166424 Thinking seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166427 Startle epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166430 Micturation-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166433 Reading seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:166433 Reading seizures oboInOwl:hasDbXref OMIM:132300 semapv:UnspecifiedMatching -orphanet.ordo:166433 Reading seizures oboInOwl:hasDbXref UMLS:C0278193 semapv:UnspecifiedMatching -orphanet.ordo:166481 Metabolic diseases with epilepsy oboInOwl:hasDbXref UMLS:C1299598 semapv:UnspecifiedMatching -orphanet.ordo:1665 Sporadic fetal brain disruption sequence oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:1666 Dextrocardia oboInOwl:hasDbXref ICD10:Q24.0 semapv:UnspecifiedMatching -orphanet.ordo:1666 Dextrocardia oboInOwl:hasDbXref MESH:D003914 semapv:UnspecifiedMatching -orphanet.ordo:1666 Dextrocardia oboInOwl:hasDbXref MeSH:D003914 semapv:UnspecifiedMatching -orphanet.ordo:1666 Dextrocardia oboInOwl:hasDbXref MedDRA:10012592 semapv:UnspecifiedMatching -orphanet.ordo:1666 Dextrocardia oboInOwl:hasDbXref UMLS:C0011813 semapv:UnspecifiedMatching -orphanet.ordo:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref MESH:C536739 semapv:UnspecifiedMatching -orphanet.ordo:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref MeSH:C536739 semapv:UnspecifiedMatching -orphanet.ordo:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 semapv:UnspecifiedMatching -orphanet.ordo:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref UMLS:C0432217 semapv:UnspecifiedMatching -orphanet.ordo:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 semapv:UnspecifiedMatching -orphanet.ordo:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MeSH:D002609 semapv:UnspecifiedMatching -orphanet.ordo:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MedDRA:10008415 semapv:UnspecifiedMatching -orphanet.ordo:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching -orphanet.ordo:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref UMLS:C0007965 semapv:UnspecifiedMatching -orphanet.ordo:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching -orphanet.ordo:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:520100 semapv:UnspecifiedMatching -orphanet.ordo:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:618662 semapv:UnspecifiedMatching -orphanet.ordo:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref UMLS:C1838912 semapv:UnspecifiedMatching -orphanet.ordo:1671 Split cord malformation type I oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching -orphanet.ordo:1671 Split cord malformation type I oboInOwl:hasDbXref MedDRA:10012750 semapv:UnspecifiedMatching -orphanet.ordo:1671 Split cord malformation type I oboInOwl:hasDbXref OMIM:222500 semapv:UnspecifiedMatching -orphanet.ordo:1671 Split cord malformation type I oboInOwl:hasDbXref UMLS:C0011999 semapv:UnspecifiedMatching -orphanet.ordo:1672 Diencephalic syndrome oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching -orphanet.ordo:1672 Diencephalic syndrome oboInOwl:hasDbXref UMLS:C0342436 semapv:UnspecifiedMatching -orphanet.ordo:1674 Digitorenocerebral syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching -orphanet.ordo:1674 Digitorenocerebral syndrome oboInOwl:hasDbXref UMLS:C0795934 semapv:UnspecifiedMatching -orphanet.ordo:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching -orphanet.ordo:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MeSH:D054067 semapv:UnspecifiedMatching -orphanet.ordo:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10052622 semapv:UnspecifiedMatching -orphanet.ordo:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 semapv:UnspecifiedMatching -orphanet.ordo:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1959620 semapv:UnspecifiedMatching -orphanet.ordo:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching -orphanet.ordo:167635 Scleromyxedema oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:167635 Scleromyxedema oboInOwl:hasDbXref MESH:D053718 semapv:UnspecifiedMatching -orphanet.ordo:167635 Scleromyxedema oboInOwl:hasDbXref MeSH:D053718 semapv:UnspecifiedMatching -orphanet.ordo:167635 Scleromyxedema oboInOwl:hasDbXref MedDRA:10055046 semapv:UnspecifiedMatching -orphanet.ordo:167635 Scleromyxedema oboInOwl:hasDbXref UMLS:C0263390 semapv:UnspecifiedMatching -orphanet.ordo:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:167714 Unclassified acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:167762 Rare disease with dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C0011436 semapv:UnspecifiedMatching -orphanet.ordo:1678 Dincsoy-Salih-Patel syndrome oboInOwl:hasDbXref OMIM:601016 semapv:UnspecifiedMatching -orphanet.ordo:1678 Dincsoy-Salih-Patel syndrome oboInOwl:hasDbXref UMLS:C1832874 semapv:UnspecifiedMatching -orphanet.ordo:167848 Rare cardiomyopathy oboInOwl:hasDbXref MESH:D009202 semapv:UnspecifiedMatching -orphanet.ordo:167848 Rare cardiomyopathy oboInOwl:hasDbXref MeSH:D009202 semapv:UnspecifiedMatching -orphanet.ordo:167848 Rare cardiomyopathy oboInOwl:hasDbXref MedDRA:10007636 semapv:UnspecifiedMatching -orphanet.ordo:167848 Rare cardiomyopathy oboInOwl:hasDbXref UMLS:C0878544 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.0 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.1 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.2 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.3 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.8 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.9 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref MESH:D004165 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref MeSH:D004165 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref MedDRA:10013023 semapv:UnspecifiedMatching -orphanet.ordo:1679 Diphtheria oboInOwl:hasDbXref UMLS:C0012546 semapv:UnspecifiedMatching -orphanet.ordo:168 Loose anagen syndrome oboInOwl:hasDbXref ICD10:L65.1 semapv:UnspecifiedMatching -orphanet.ordo:168 Loose anagen syndrome oboInOwl:hasDbXref MESH:D058247 semapv:UnspecifiedMatching -orphanet.ordo:168 Loose anagen syndrome oboInOwl:hasDbXref MeSH:D058247 semapv:UnspecifiedMatching -orphanet.ordo:168 Loose anagen syndrome oboInOwl:hasDbXref OMIM:600628 semapv:UnspecifiedMatching -orphanet.ordo:168 Loose anagen syndrome oboInOwl:hasDbXref UMLS:C0406468 semapv:UnspecifiedMatching -orphanet.ordo:1681 Diprosopus oboInOwl:hasDbXref ICD10:Q89.4 semapv:UnspecifiedMatching -orphanet.ordo:168194 Rare cardiac tumor oboInOwl:hasDbXref UMLS:C0018809 semapv:UnspecifiedMatching -orphanet.ordo:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref OMIM:600459 semapv:UnspecifiedMatching -orphanet.ordo:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref UMLS:C1838122 semapv:UnspecifiedMatching -orphanet.ordo:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref OMIM:126320 semapv:UnspecifiedMatching -orphanet.ordo:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref UMLS:C1852062 semapv:UnspecifiedMatching -orphanet.ordo:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref MESH:C535783 semapv:UnspecifiedMatching -orphanet.ordo:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref MeSH:C535783 semapv:UnspecifiedMatching -orphanet.ordo:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:183849 semapv:UnspecifiedMatching -orphanet.ordo:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1866728 semapv:UnspecifiedMatching -orphanet.ordo:168448 Spondyloepimetaphyseal dysplasia, Bieganski type oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref OMIM:601668 semapv:UnspecifiedMatching -orphanet.ordo:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref UMLS:C1866507 semapv:UnspecifiedMatching -orphanet.ordo:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref MESH:C535785 semapv:UnspecifiedMatching -orphanet.ordo:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref MeSH:C535785 semapv:UnspecifiedMatching -orphanet.ordo:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref OMIM:610442 semapv:UnspecifiedMatching -orphanet.ordo:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref UMLS:C1864872 semapv:UnspecifiedMatching -orphanet.ordo:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -orphanet.ordo:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256731 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610951 semapv:UnspecifiedMatching -orphanet.ordo:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022340 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.2 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.3 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.4 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.5 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.8 semapv:UnspecifiedMatching -orphanet.ordo:1685 Distomatosis oboInOwl:hasDbXref UMLS:C0040820 semapv:UnspecifiedMatching -orphanet.ordo:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref OMIM:313420 semapv:UnspecifiedMatching -orphanet.ordo:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref UMLS:C0796172 semapv:UnspecifiedMatching -orphanet.ordo:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 semapv:UnspecifiedMatching -orphanet.ordo:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MeSH:C535795 semapv:UnspecifiedMatching -orphanet.ordo:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:602271 semapv:UnspecifiedMatching -orphanet.ordo:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1865695 semapv:UnspecifiedMatching -orphanet.ordo:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref MESH:C535791 semapv:UnspecifiedMatching -orphanet.ordo:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref MeSH:C535791 semapv:UnspecifiedMatching -orphanet.ordo:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:607543 semapv:UnspecifiedMatching -orphanet.ordo:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1843706 semapv:UnspecifiedMatching -orphanet.ordo:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref OMIM:609052 semapv:UnspecifiedMatching -orphanet.ordo:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref UMLS:C1836862 semapv:UnspecifiedMatching -orphanet.ordo:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref OMIM:613743 semapv:UnspecifiedMatching -orphanet.ordo:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:607080 semapv:UnspecifiedMatching -orphanet.ordo:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref UMLS:C2751325 semapv:UnspecifiedMatching -orphanet.ordo:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref OMIM:610505 semapv:UnspecifiedMatching -orphanet.ordo:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref UMLS:C1864840 semapv:UnspecifiedMatching -orphanet.ordo:168569 H syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:168569 H syndrome oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching -orphanet.ordo:168572 Native American myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:168572 Native American myopathy oboInOwl:hasDbXref MESH:C538343 semapv:UnspecifiedMatching -orphanet.ordo:168572 Native American myopathy oboInOwl:hasDbXref MeSH:C538343 semapv:UnspecifiedMatching -orphanet.ordo:168572 Native American myopathy oboInOwl:hasDbXref OMIM:255995 semapv:UnspecifiedMatching -orphanet.ordo:168572 Native American myopathy oboInOwl:hasDbXref UMLS:C1850625 semapv:UnspecifiedMatching -orphanet.ordo:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref OMIM:608885 semapv:UnspecifiedMatching -orphanet.ordo:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref UMLS:C1837206 semapv:UnspecifiedMatching -orphanet.ordo:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching -orphanet.ordo:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref OMIM:604901 semapv:UnspecifiedMatching -orphanet.ordo:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref UMLS:C1858051 semapv:UnspecifiedMatching -orphanet.ordo:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching -orphanet.ordo:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref OMIM:604931 semapv:UnspecifiedMatching -orphanet.ordo:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref OMIM:614662 semapv:UnspecifiedMatching -orphanet.ordo:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref UMLS:C1291245 semapv:UnspecifiedMatching -orphanet.ordo:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref OMIM:608800 semapv:UnspecifiedMatching -orphanet.ordo:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref UMLS:C1837371 semapv:UnspecifiedMatching -orphanet.ordo:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref OMIM:250850 semapv:UnspecifiedMatching -orphanet.ordo:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref UMLS:C0268621 semapv:UnspecifiedMatching -orphanet.ordo:1686 Cardiac diverticulum oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -orphanet.ordo:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref OMIM:226200 semapv:UnspecifiedMatching -orphanet.ordo:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref UMLS:C0268416 semapv:UnspecifiedMatching -orphanet.ordo:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref ICD10:L21.8 semapv:UnspecifiedMatching -orphanet.ordo:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref OMIM:610227 semapv:UnspecifiedMatching -orphanet.ordo:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref UMLS:C1853258 semapv:UnspecifiedMatching -orphanet.ordo:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching -orphanet.ordo:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref OMIM:615969 semapv:UnspecifiedMatching -orphanet.ordo:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref UMLS:C1863081 semapv:UnspecifiedMatching -orphanet.ordo:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching -orphanet.ordo:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref OMIM:615970 semapv:UnspecifiedMatching -orphanet.ordo:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref OMIM:609579 semapv:UnspecifiedMatching -orphanet.ordo:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref UMLS:C1865070 semapv:UnspecifiedMatching -orphanet.ordo:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching -orphanet.ordo:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching -orphanet.ordo:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching -orphanet.ordo:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref OMIM:605827 semapv:UnspecifiedMatching -orphanet.ordo:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref UMLS:C1853919 semapv:UnspecifiedMatching -orphanet.ordo:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MESH:D002659 semapv:UnspecifiedMatching -orphanet.ordo:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MeSH:D002659 semapv:UnspecifiedMatching -orphanet.ordo:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MedDRA:10061345 semapv:UnspecifiedMatching -orphanet.ordo:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref UMLS:C0524528 semapv:UnspecifiedMatching -orphanet.ordo:168782 Childhood disintegrative disorder oboInOwl:hasDbXref ICD10:F84.3 semapv:UnspecifiedMatching -orphanet.ordo:168782 Childhood disintegrative disorder oboInOwl:hasDbXref MedDRA:10008522 semapv:UnspecifiedMatching -orphanet.ordo:168782 Childhood disintegrative disorder oboInOwl:hasDbXref UMLS:C0236791 semapv:UnspecifiedMatching -orphanet.ordo:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref MESH:C535852 semapv:UnspecifiedMatching -orphanet.ordo:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref MeSH:C535852 semapv:UnspecifiedMatching -orphanet.ordo:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref OMIM:610140 semapv:UnspecifiedMatching -orphanet.ordo:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref UMLS:C1857829 semapv:UnspecifiedMatching -orphanet.ordo:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching -orphanet.ordo:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref MedDRA:10056558 semapv:UnspecifiedMatching -orphanet.ordo:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0346109 semapv:UnspecifiedMatching -orphanet.ordo:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching -orphanet.ordo:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref UMLS:C0206680 semapv:UnspecifiedMatching -orphanet.ordo:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching -orphanet.ordo:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching -orphanet.ordo:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref MedDRA:10065854 semapv:UnspecifiedMatching -orphanet.ordo:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref UMLS:C0346421 semapv:UnspecifiedMatching -orphanet.ordo:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref UMLS:C3472621 semapv:UnspecifiedMatching -orphanet.ordo:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref OMIM:613523 semapv:UnspecifiedMatching -orphanet.ordo:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref MESH:D017681 semapv:UnspecifiedMatching -orphanet.ordo:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref MeSH:D017681 semapv:UnspecifiedMatching -orphanet.ordo:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref MedDRA:10048643 semapv:UnspecifiedMatching -orphanet.ordo:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C1540912 semapv:UnspecifiedMatching -orphanet.ordo:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -orphanet.ordo:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref MedDRA:10038271 semapv:UnspecifiedMatching -orphanet.ordo:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref UMLS:C0280028 semapv:UnspecifiedMatching -orphanet.ordo:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching -orphanet.ordo:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:168966 Composite lymphoma oboInOwl:hasDbXref MESH:D058617 semapv:UnspecifiedMatching -orphanet.ordo:168966 Composite lymphoma oboInOwl:hasDbXref MeSH:D058617 semapv:UnspecifiedMatching -orphanet.ordo:168966 Composite lymphoma oboInOwl:hasDbXref UMLS:C0545080 semapv:UnspecifiedMatching -orphanet.ordo:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:168972 Kahrizi syndrome oboInOwl:hasDbXref OMIM:612713 semapv:UnspecifiedMatching -orphanet.ordo:168972 Kahrizi syndrome oboInOwl:hasDbXref UMLS:C2675185 semapv:UnspecifiedMatching -orphanet.ordo:168984 CLAPO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:168984 CLAPO syndrome oboInOwl:hasDbXref OMIM:613089 semapv:UnspecifiedMatching -orphanet.ordo:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching -orphanet.ordo:169 Ringed hair disease oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching -orphanet.ordo:169 Ringed hair disease oboInOwl:hasDbXref MESH:C537187 semapv:UnspecifiedMatching -orphanet.ordo:169 Ringed hair disease oboInOwl:hasDbXref MeSH:C537187 semapv:UnspecifiedMatching -orphanet.ordo:169 Ringed hair disease oboInOwl:hasDbXref OMIM:180600 semapv:UnspecifiedMatching -orphanet.ordo:169 Ringed hair disease oboInOwl:hasDbXref UMLS:C0263489 semapv:UnspecifiedMatching -orphanet.ordo:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref OMIM:611291 semapv:UnspecifiedMatching -orphanet.ordo:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref OMIM:615607 semapv:UnspecifiedMatching -orphanet.ordo:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref OMIM:608957 semapv:UnspecifiedMatching -orphanet.ordo:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref UMLS:C1837065 semapv:UnspecifiedMatching -orphanet.ordo:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching -orphanet.ordo:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching -orphanet.ordo:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching -orphanet.ordo:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:618806 semapv:UnspecifiedMatching -orphanet.ordo:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref OMIM:606367 semapv:UnspecifiedMatching -orphanet.ordo:169105 Good syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:169105 Good syndrome oboInOwl:hasDbXref UMLS:C0221027 semapv:UnspecifiedMatching -orphanet.ordo:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching -orphanet.ordo:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref UMLS:C0398692 semapv:UnspecifiedMatching -orphanet.ordo:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10:D80.7 semapv:UnspecifiedMatching -orphanet.ordo:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref MedDRA:10044388 semapv:UnspecifiedMatching -orphanet.ordo:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS:C0272238 semapv:UnspecifiedMatching -orphanet.ordo:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -orphanet.ordo:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:245480 semapv:UnspecifiedMatching -orphanet.ordo:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:617475 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:216950 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:217000 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613652 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613783 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:614379 semapv:UnspecifiedMatching -orphanet.ordo:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:614380 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:610102 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:612446 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613789 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613790 semapv:UnspecifiedMatching -orphanet.ordo:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613825 semapv:UnspecifiedMatching -orphanet.ordo:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref OMIM:608971 semapv:UnspecifiedMatching -orphanet.ordo:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref UMLS:C1837028 semapv:UnspecifiedMatching -orphanet.ordo:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref OMIM:608971 semapv:UnspecifiedMatching -orphanet.ordo:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref UMLS:C1837028 semapv:UnspecifiedMatching -orphanet.ordo:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:610163 semapv:UnspecifiedMatching -orphanet.ordo:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:615615 semapv:UnspecifiedMatching -orphanet.ordo:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:615617 semapv:UnspecifiedMatching -orphanet.ordo:169163 Familial scaphocephaly syndrome oboInOwl:hasDbXref MedDRA:10072229 semapv:UnspecifiedMatching -orphanet.ordo:169163 Familial scaphocephaly syndrome oboInOwl:hasDbXref UMLS:C3267076 semapv:UnspecifiedMatching -orphanet.ordo:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching -orphanet.ordo:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:615959 semapv:UnspecifiedMatching -orphanet.ordo:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410204 semapv:UnspecifiedMatching -orphanet.ordo:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref OMIM:160150 semapv:UnspecifiedMatching -orphanet.ordo:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS:C1834558 semapv:UnspecifiedMatching -orphanet.ordo:1692 Mosaic trisomy 1 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:169349 Immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0432218 semapv:UnspecifiedMatching -orphanet.ordo:169464 Primary CD59 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:169464 Primary CD59 deficiency oboInOwl:hasDbXref OMIM:612300 semapv:UnspecifiedMatching -orphanet.ordo:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref OMIM:613912 semapv:UnspecifiedMatching -orphanet.ordo:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref UMLS:C0398764 semapv:UnspecifiedMatching -orphanet.ordo:1695 Non-distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1695 Non-distal duplication 10q oboInOwl:hasDbXref UMLS:C2936831 semapv:UnspecifiedMatching -orphanet.ordo:169793 Severe hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching -orphanet.ordo:169793 Severe hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -orphanet.ordo:169796 Moderate hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching -orphanet.ordo:169796 Moderate hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -orphanet.ordo:169799 Mild hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching -orphanet.ordo:169799 Mild hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -orphanet.ordo:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:169802 Severe hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching -orphanet.ordo:169802 Severe hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching -orphanet.ordo:169802 Severe hemophilia A oboInOwl:hasDbXref UMLS:C0272322 semapv:UnspecifiedMatching -orphanet.ordo:169805 Moderate hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching -orphanet.ordo:169805 Moderate hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching -orphanet.ordo:169808 Mild hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching -orphanet.ordo:169808 Mild hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching -orphanet.ordo:169808 Mild hemophilia A oboInOwl:hasDbXref UMLS:C0272324 semapv:UnspecifiedMatching -orphanet.ordo:1699 Trisomy 12p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1699 Trisomy 12p oboInOwl:hasDbXref UMLS:C0795845 semapv:UnspecifiedMatching -orphanet.ordo:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref OMIM:245400 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref MESH:C536745 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref MeSH:C536745 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref MedDRA:10048017 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref OMIM:194300 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref OMIM:278150 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref OMIM:604379 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref OMIM:615896 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref OMIM:616760 semapv:UnspecifiedMatching -orphanet.ordo:170 Woolly hair oboInOwl:hasDbXref UMLS:C0343073 semapv:UnspecifiedMatching -orphanet.ordo:1702 Non-distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1703 Mosaic trisomy 14 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:1703 Mosaic trisomy 14 oboInOwl:hasDbXref MESH:C535489 semapv:UnspecifiedMatching -orphanet.ordo:1703 Mosaic trisomy 14 oboInOwl:hasDbXref MeSH:C535489 semapv:UnspecifiedMatching -orphanet.ordo:1703 Mosaic trisomy 14 oboInOwl:hasDbXref UMLS:C2930917 semapv:UnspecifiedMatching -orphanet.ordo:1705 Distal duplication 14q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1705 Distal duplication 14q oboInOwl:hasDbXref MESH:C538034 semapv:UnspecifiedMatching -orphanet.ordo:1705 Distal duplication 14q oboInOwl:hasDbXref MeSH:C538034 semapv:UnspecifiedMatching -orphanet.ordo:1705 Distal duplication 14q oboInOwl:hasDbXref UMLS:C2931702 semapv:UnspecifiedMatching -orphanet.ordo:1706 Mosaic trisomy 15 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:1706 Mosaic trisomy 15 oboInOwl:hasDbXref MESH:C538037 semapv:UnspecifiedMatching -orphanet.ordo:1706 Mosaic trisomy 15 oboInOwl:hasDbXref MeSH:C538037 semapv:UnspecifiedMatching -orphanet.ordo:1706 Mosaic trisomy 15 oboInOwl:hasDbXref UMLS:C2931707 semapv:UnspecifiedMatching -orphanet.ordo:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1707 Distal duplication 15q oboInOwl:hasDbXref MESH:C538036 semapv:UnspecifiedMatching -orphanet.ordo:1707 Distal duplication 15q oboInOwl:hasDbXref MeSH:C538036 semapv:UnspecifiedMatching -orphanet.ordo:1707 Distal duplication 15q oboInOwl:hasDbXref UMLS:C2931705 semapv:UnspecifiedMatching -orphanet.ordo:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MESH:C536419 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MeSH:C536419 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10036732 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:602114 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching -orphanet.ordo:171 Primary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0566602 semapv:UnspecifiedMatching -orphanet.ordo:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:1711 Mosaic trisomy 17 oboInOwl:hasDbXref UMLS:C1096168 semapv:UnspecifiedMatching -orphanet.ordo:171220 Rectal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching -orphanet.ordo:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref MESH:C536578 semapv:UnspecifiedMatching -orphanet.ordo:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref MeSH:C536578 semapv:UnspecifiedMatching -orphanet.ordo:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:610883 semapv:UnspecifiedMatching -orphanet.ordo:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C2931246 semapv:UnspecifiedMatching -orphanet.ordo:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -orphanet.ordo:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching -orphanet.ordo:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615348 semapv:UnspecifiedMatching -orphanet.ordo:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching -orphanet.ordo:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching -orphanet.ordo:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -orphanet.ordo:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching -orphanet.ordo:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching -orphanet.ordo:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:610687 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching -orphanet.ordo:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609273 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:617336 semapv:UnspecifiedMatching -orphanet.ordo:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546125 semapv:UnspecifiedMatching -orphanet.ordo:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546123 semapv:UnspecifiedMatching -orphanet.ordo:171445 Muscle filaminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:171445 Muscle filaminopathy oboInOwl:hasDbXref OMIM:609524 semapv:UnspecifiedMatching -orphanet.ordo:171445 Muscle filaminopathy oboInOwl:hasDbXref UMLS:C1836050 semapv:UnspecifiedMatching -orphanet.ordo:1715 Trisomy 18p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:1715 Trisomy 18p oboInOwl:hasDbXref MESH:C538307 semapv:UnspecifiedMatching -orphanet.ordo:1715 Trisomy 18p oboInOwl:hasDbXref MeSH:C538307 semapv:UnspecifiedMatching -orphanet.ordo:1715 Trisomy 18p oboInOwl:hasDbXref UMLS:C2931811 semapv:UnspecifiedMatching -orphanet.ordo:1716 Distal duplication 18q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref OMIM:300750 semapv:UnspecifiedMatching -orphanet.ordo:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref UMLS:C2677897 semapv:UnspecifiedMatching -orphanet.ordo:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref OMIM:611945 semapv:UnspecifiedMatching -orphanet.ordo:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref UMLS:C2936880 semapv:UnspecifiedMatching -orphanet.ordo:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref OMIM:612335 semapv:UnspecifiedMatching -orphanet.ordo:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref UMLS:C2676732 semapv:UnspecifiedMatching -orphanet.ordo:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref OMIM:611252 semapv:UnspecifiedMatching -orphanet.ordo:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref UMLS:C1970009 semapv:UnspecifiedMatching -orphanet.ordo:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching -orphanet.ordo:171673 Limbal stem cell deficiency oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching -orphanet.ordo:171673 Limbal stem cell deficiency oboInOwl:hasDbXref UMLS:C1561989 semapv:UnspecifiedMatching -orphanet.ordo:171676 NON RARE IN EUROPE: Periventricular leukomalacia oboInOwl:hasDbXref ICD10:P91.2 semapv:UnspecifiedMatching -orphanet.ordo:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref OMIM:611603 semapv:UnspecifiedMatching -orphanet.ordo:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching -orphanet.ordo:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching -orphanet.ordo:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref OMIM:245340 semapv:UnspecifiedMatching -orphanet.ordo:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref UMLS:C1855577 semapv:UnspecifiedMatching -orphanet.ordo:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168100 semapv:UnspecifiedMatching -orphanet.ordo:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching -orphanet.ordo:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:260300 semapv:UnspecifiedMatching -orphanet.ordo:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref UMLS:C1850100 semapv:UnspecifiedMatching -orphanet.ordo:1717 Distal duplication 19q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching -orphanet.ordo:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MESH:C536174 semapv:UnspecifiedMatching -orphanet.ordo:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MeSH:C536174 semapv:UnspecifiedMatching -orphanet.ordo:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MedDRA:10062952 semapv:UnspecifiedMatching -orphanet.ordo:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref OMIM:604809 semapv:UnspecifiedMatching -orphanet.ordo:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref UMLS:C0878555 semapv:UnspecifiedMatching -orphanet.ordo:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:609698 semapv:UnspecifiedMatching -orphanet.ordo:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:619855 semapv:UnspecifiedMatching -orphanet.ordo:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:620198 semapv:UnspecifiedMatching -orphanet.ordo:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref OMIM:102530 semapv:UnspecifiedMatching -orphanet.ordo:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching -orphanet.ordo:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref UMLS:C1836824 semapv:UnspecifiedMatching -orphanet.ordo:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref OMIM:614100 semapv:UnspecifiedMatching -orphanet.ordo:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref UMLS:C0432335 semapv:UnspecifiedMatching -orphanet.ordo:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching -orphanet.ordo:171723 White sponge nevus oboInOwl:hasDbXref OMIM:193900 semapv:UnspecifiedMatching -orphanet.ordo:171723 White sponge nevus oboInOwl:hasDbXref OMIM:615785 semapv:UnspecifiedMatching -orphanet.ordo:171723 White sponge nevus oboInOwl:hasDbXref UMLS:C1721005 semapv:UnspecifiedMatching -orphanet.ordo:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching -orphanet.ordo:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref UMLS:C3267187 semapv:UnspecifiedMatching -orphanet.ordo:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref OMIM:612445 semapv:UnspecifiedMatching -orphanet.ordo:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref UMLS:C2676234 semapv:UnspecifiedMatching -orphanet.ordo:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching -orphanet.ordo:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref OMIM:612674 semapv:UnspecifiedMatching -orphanet.ordo:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref UMLS:C2675204 semapv:UnspecifiedMatching -orphanet.ordo:171851 MEDNIK syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching -orphanet.ordo:171851 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 semapv:UnspecifiedMatching -orphanet.ordo:171851 MEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836330 semapv:UnspecifiedMatching -orphanet.ordo:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref OMIM:612539 semapv:UnspecifiedMatching -orphanet.ordo:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref UMLS:C2675528 semapv:UnspecifiedMatching -orphanet.ordo:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref OMIM:612813 semapv:UnspecifiedMatching -orphanet.ordo:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref UMLS:C2748544 semapv:UnspecifiedMatching -orphanet.ordo:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching -orphanet.ordo:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449842 semapv:UnspecifiedMatching -orphanet.ordo:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 semapv:UnspecifiedMatching -orphanet.ordo:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449843 semapv:UnspecifiedMatching -orphanet.ordo:171881 Cap myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching -orphanet.ordo:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching -orphanet.ordo:171881 Cap myopathy oboInOwl:hasDbXref UMLS:C3710589 semapv:UnspecifiedMatching -orphanet.ordo:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref MESH:D016410 semapv:UnspecifiedMatching -orphanet.ordo:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref MeSH:D016410 semapv:UnspecifiedMatching -orphanet.ordo:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref MedDRA:10011677 semapv:UnspecifiedMatching -orphanet.ordo:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref UMLS:C0079773 semapv:UnspecifiedMatching -orphanet.ordo:171918 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref MedDRA:10042971 semapv:UnspecifiedMatching -orphanet.ordo:171918 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0079772 semapv:UnspecifiedMatching -orphanet.ordo:171929 Trisomy 10p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:171929 Trisomy 10p oboInOwl:hasDbXref UMLS:C0795837 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619484 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619662 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619849 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619868 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:620010 semapv:UnspecifiedMatching -orphanet.ordo:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0268312 semapv:UnspecifiedMatching -orphanet.ordo:1723 Mosaic trisomy 2 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:1724 Mosaic trisomy 20 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref OMIM:608363 semapv:UnspecifiedMatching -orphanet.ordo:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref UMLS:C2675369 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref ICD10:A00.0 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref ICD10:A00.1 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref ICD10:A00.9 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref MESH:D002771 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref MeSH:D002771 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref MedDRA:10008631 semapv:UnspecifiedMatching -orphanet.ordo:173 Cholera oboInOwl:hasDbXref UMLS:C0008354 semapv:UnspecifiedMatching -orphanet.ordo:1738 Trisomy 4p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:1738 Trisomy 4p oboInOwl:hasDbXref MESH:C537643 semapv:UnspecifiedMatching -orphanet.ordo:1738 Trisomy 4p oboInOwl:hasDbXref MeSH:C537643 semapv:UnspecifiedMatching -orphanet.ordo:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref MESH:C537352 semapv:UnspecifiedMatching -orphanet.ordo:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref MeSH:C537352 semapv:UnspecifiedMatching -orphanet.ordo:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref OMIM:156500 semapv:UnspecifiedMatching -orphanet.ordo:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref UMLS:C0265289 semapv:UnspecifiedMatching -orphanet.ordo:1742 Trisomy 5p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:1745 Distal duplication 6p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:1747 Mosaic trisomy 7 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:1747 Mosaic trisomy 7 oboInOwl:hasDbXref MESH:C537822 semapv:UnspecifiedMatching -orphanet.ordo:1747 Mosaic trisomy 7 oboInOwl:hasDbXref MeSH:C537822 semapv:UnspecifiedMatching -orphanet.ordo:1747 Mosaic trisomy 7 oboInOwl:hasDbXref UMLS:C2931631 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MeSH:C535916 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MedDRA:10069596 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250250 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250460 semapv:UnspecifiedMatching -orphanet.ordo:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS:C0220748 semapv:UnspecifiedMatching -orphanet.ordo:1752 Trisomy 8q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:1752 Trisomy 8q oboInOwl:hasDbXref MESH:C538020 semapv:UnspecifiedMatching -orphanet.ordo:1752 Trisomy 8q oboInOwl:hasDbXref MeSH:C538020 semapv:UnspecifiedMatching -orphanet.ordo:1752 Trisomy 8q oboInOwl:hasDbXref UMLS:C0795829 semapv:UnspecifiedMatching -orphanet.ordo:1756 Caudal duplication oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1756 Caudal duplication oboInOwl:hasDbXref OMIM:607864 semapv:UnspecifiedMatching -orphanet.ordo:1756 Caudal duplication oboInOwl:hasDbXref UMLS:C0266688 semapv:UnspecifiedMatching -orphanet.ordo:1757 Fibular dimelia-diplopodia syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching -orphanet.ordo:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref MESH:C537723 semapv:UnspecifiedMatching -orphanet.ordo:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref MeSH:C537723 semapv:UnspecifiedMatching -orphanet.ordo:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref OMIM:300260 semapv:UnspecifiedMatching -orphanet.ordo:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref OMIM:300815 semapv:UnspecifiedMatching -orphanet.ordo:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref UMLS:C1846058 semapv:UnspecifiedMatching -orphanet.ordo:1764 Familial dysautonomia oboInOwl:hasDbXref ICD10:G90.1 semapv:UnspecifiedMatching -orphanet.ordo:1764 Familial dysautonomia oboInOwl:hasDbXref MESH:D004402 semapv:UnspecifiedMatching -orphanet.ordo:1764 Familial dysautonomia oboInOwl:hasDbXref MeSH:D004402 semapv:UnspecifiedMatching -orphanet.ordo:1764 Familial dysautonomia oboInOwl:hasDbXref MedDRA:10039179 semapv:UnspecifiedMatching -orphanet.ordo:1764 Familial dysautonomia oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching -orphanet.ordo:1764 Familial dysautonomia oboInOwl:hasDbXref UMLS:C0013364 semapv:UnspecifiedMatching -orphanet.ordo:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref OMIM:127350 semapv:UnspecifiedMatching -orphanet.ordo:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref UMLS:C1851986 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MESH:C535731 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MeSH:C535731 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MedDRA:10013140 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:224050 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:610185 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:613227 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:615268 semapv:UnspecifiedMatching -orphanet.ordo:1766 Dysequilibrium syndrome oboInOwl:hasDbXref UMLS:C0394006 semapv:UnspecifiedMatching -orphanet.ordo:1767 Familial progressive vestibulocochlear dysfunction oboInOwl:hasDbXref OMIM:193005 semapv:UnspecifiedMatching -orphanet.ordo:1768 Familial caudal dysgenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1768 Familial caudal dysgenesis oboInOwl:hasDbXref UMLS:C2931053 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MeSH:D018902 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching -orphanet.ordo:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282529 semapv:UnspecifiedMatching -orphanet.ordo:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching -orphanet.ordo:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref OMIM:233430 semapv:UnspecifiedMatching -orphanet.ordo:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref UMLS:C1856272 semapv:UnspecifiedMatching -orphanet.ordo:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q98.7 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref MeSH:D019871 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref MedDRA:10062759 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:127550 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:224230 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:305000 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613987 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613988 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613989 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613990 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:615190 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:616353 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:620040 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:620133 semapv:UnspecifiedMatching -orphanet.ordo:1775 Dyskeratosis congenita oboInOwl:hasDbXref UMLS:C0265965 semapv:UnspecifiedMatching -orphanet.ordo:1777 Temtamy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1777 Temtamy syndrome oboInOwl:hasDbXref MESH:C536959 semapv:UnspecifiedMatching -orphanet.ordo:1777 Temtamy syndrome oboInOwl:hasDbXref MeSH:C536959 semapv:UnspecifiedMatching -orphanet.ordo:1777 Temtamy syndrome oboInOwl:hasDbXref OMIM:218340 semapv:UnspecifiedMatching -orphanet.ordo:1777 Temtamy syndrome oboInOwl:hasDbXref UMLS:C1857512 semapv:UnspecifiedMatching -orphanet.ordo:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome oboInOwl:hasDbXref UMLS:C2931522 semapv:UnspecifiedMatching -orphanet.ordo:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref UMLS:C4706366 semapv:UnspecifiedMatching -orphanet.ordo:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching -orphanet.ordo:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching -orphanet.ordo:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching -orphanet.ordo:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching -orphanet.ordo:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching -orphanet.ordo:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -orphanet.ordo:178 Chordoma oboInOwl:hasDbXref ICD10:C76.7 semapv:UnspecifiedMatching -orphanet.ordo:178 Chordoma oboInOwl:hasDbXref MESH:D002817 semapv:UnspecifiedMatching -orphanet.ordo:178 Chordoma oboInOwl:hasDbXref MeSH:D002817 semapv:UnspecifiedMatching -orphanet.ordo:178 Chordoma oboInOwl:hasDbXref MedDRA:10008747 semapv:UnspecifiedMatching -orphanet.ordo:178 Chordoma oboInOwl:hasDbXref OMIM:215400 semapv:UnspecifiedMatching -orphanet.ordo:178 Chordoma oboInOwl:hasDbXref UMLS:C0008487 semapv:UnspecifiedMatching -orphanet.ordo:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref OMIM:227255 semapv:UnspecifiedMatching -orphanet.ordo:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref UMLS:C2931219 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref MeSH:D020790 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref MedDRA:10068587 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching -orphanet.ordo:178029 Central diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching -orphanet.ordo:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching -orphanet.ordo:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref UMLS:C1861753 semapv:UnspecifiedMatching -orphanet.ordo:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1843691 semapv:UnspecifiedMatching -orphanet.ordo:1782 Dysosteosclerosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1782 Dysosteosclerosis oboInOwl:hasDbXref OMIM:224300 semapv:UnspecifiedMatching -orphanet.ordo:1782 Dysosteosclerosis oboInOwl:hasDbXref UMLS:C0432262 semapv:UnspecifiedMatching -orphanet.ordo:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:608156 semapv:UnspecifiedMatching -orphanet.ordo:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1842464 semapv:UnspecifiedMatching -orphanet.ordo:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching -orphanet.ordo:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref OMIM:615537 semapv:UnspecifiedMatching -orphanet.ordo:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching -orphanet.ordo:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref UMLS:C0020499 semapv:UnspecifiedMatching -orphanet.ordo:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:178320 Acute lung injury oboInOwl:hasDbXref ICD10:S27.3 semapv:UnspecifiedMatching -orphanet.ordo:178320 Acute lung injury oboInOwl:hasDbXref MESH:D055371 semapv:UnspecifiedMatching -orphanet.ordo:178320 Acute lung injury oboInOwl:hasDbXref MeSH:D055371 semapv:UnspecifiedMatching -orphanet.ordo:178320 Acute lung injury oboInOwl:hasDbXref MedDRA:10069351 semapv:UnspecifiedMatching -orphanet.ordo:178320 Acute lung injury oboInOwl:hasDbXref UMLS:C0242488 semapv:UnspecifiedMatching -orphanet.ordo:178333 Åland Islands eye disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:178333 Åland Islands eye disease oboInOwl:hasDbXref OMIM:300600 semapv:UnspecifiedMatching -orphanet.ordo:178333 Åland Islands eye disease oboInOwl:hasDbXref UMLS:C0268505 semapv:UnspecifiedMatching -orphanet.ordo:178338 UV-sensitive syndrome oboInOwl:hasDbXref ICD10:L56.8 semapv:UnspecifiedMatching -orphanet.ordo:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:600630 semapv:UnspecifiedMatching -orphanet.ordo:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614621 semapv:UnspecifiedMatching -orphanet.ordo:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614640 semapv:UnspecifiedMatching -orphanet.ordo:178338 UV-sensitive syndrome oboInOwl:hasDbXref UMLS:C1833561 semapv:UnspecifiedMatching -orphanet.ordo:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching -orphanet.ordo:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref MedDRA:10067917 semapv:UnspecifiedMatching -orphanet.ordo:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref UMLS:C0334121 semapv:UnspecifiedMatching -orphanet.ordo:178345 Aromatase excess syndrome oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching -orphanet.ordo:178345 Aromatase excess syndrome oboInOwl:hasDbXref OMIM:139300 semapv:UnspecifiedMatching -orphanet.ordo:178345 Aromatase excess syndrome oboInOwl:hasDbXref UMLS:C1970109 semapv:UnspecifiedMatching -orphanet.ordo:178355 Smith-McCort dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:607326 semapv:UnspecifiedMatching -orphanet.ordo:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:615222 semapv:UnspecifiedMatching -orphanet.ordo:178355 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS:C1846431 semapv:UnspecifiedMatching -orphanet.ordo:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching -orphanet.ordo:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref UMLS:C1864690 semapv:UnspecifiedMatching -orphanet.ordo:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:178382 Congenital vertical talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:178382 Congenital vertical talus oboInOwl:hasDbXref MedDRA:10066242 semapv:UnspecifiedMatching -orphanet.ordo:178382 Congenital vertical talus oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching -orphanet.ordo:178382 Congenital vertical talus oboInOwl:hasDbXref UMLS:C0240912 semapv:UnspecifiedMatching -orphanet.ordo:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref OMIM:612301 semapv:UnspecifiedMatching -orphanet.ordo:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref UMLS:C2676766 semapv:UnspecifiedMatching -orphanet.ordo:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching -orphanet.ordo:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:201180 semapv:UnspecifiedMatching -orphanet.ordo:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref UMLS:C1860118 semapv:UnspecifiedMatching -orphanet.ordo:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 semapv:UnspecifiedMatching -orphanet.ordo:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref UMLS:C1847532 semapv:UnspecifiedMatching -orphanet.ordo:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching -orphanet.ordo:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref UMLS:C2678055 semapv:UnspecifiedMatching -orphanet.ordo:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching -orphanet.ordo:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref UMLS:C1863599 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612580 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612581 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612621 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614113 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614254 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614255 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614256 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614257 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614563 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615828 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616083 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616393 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616579 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616977 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617796 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617798 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617799 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617854 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618095 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618106 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618330 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:619188 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:620114 semapv:UnspecifiedMatching -orphanet.ordo:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:620157 semapv:UnspecifiedMatching -orphanet.ordo:178475 Wound botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:178475 Wound botulism oboInOwl:hasDbXref UMLS:C1306794 semapv:UnspecifiedMatching -orphanet.ordo:178478 Infant botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:178478 Infant botulism oboInOwl:hasDbXref UMLS:C0238027 semapv:UnspecifiedMatching -orphanet.ordo:178481 Intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:178481 Intestinal botulism oboInOwl:hasDbXref UMLS:C1443901 semapv:UnspecifiedMatching -orphanet.ordo:178487 Adult intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -orphanet.ordo:178493 Myopic macular degeneration oboInOwl:hasDbXref UMLS:C0730271 semapv:UnspecifiedMatching -orphanet.ordo:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:178503 Dursun syndrome oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching -orphanet.ordo:178503 Dursun syndrome oboInOwl:hasDbXref UMLS:C2751630 semapv:UnspecifiedMatching -orphanet.ordo:178506 Brain calcification, Rajab type oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:178506 Brain calcification, Rajab type oboInOwl:hasDbXref OMIM:613658 semapv:UnspecifiedMatching -orphanet.ordo:178506 Brain calcification, Rajab type oboInOwl:hasDbXref OMIM:619013 semapv:UnspecifiedMatching -orphanet.ordo:178509 Perry syndrome oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching -orphanet.ordo:178509 Perry syndrome oboInOwl:hasDbXref OMIM:168605 semapv:UnspecifiedMatching -orphanet.ordo:178509 Perry syndrome oboInOwl:hasDbXref UMLS:C1868594 semapv:UnspecifiedMatching -orphanet.ordo:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching -orphanet.ordo:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref UMLS:C1627767 semapv:UnspecifiedMatching -orphanet.ordo:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching -orphanet.ordo:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref MESH:D056267 semapv:UnspecifiedMatching -orphanet.ordo:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref MeSH:D056267 semapv:UnspecifiedMatching -orphanet.ordo:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref UMLS:C1276140 semapv:UnspecifiedMatching -orphanet.ordo:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.8 semapv:UnspecifiedMatching -orphanet.ordo:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching -orphanet.ordo:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching -orphanet.ordo:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching -orphanet.ordo:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref MESH:D018442 semapv:UnspecifiedMatching -orphanet.ordo:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref MeSH:D018442 semapv:UnspecifiedMatching -orphanet.ordo:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref UMLS:C1275321 semapv:UnspecifiedMatching -orphanet.ordo:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching -orphanet.ordo:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref UMLS:C1333171 semapv:UnspecifiedMatching -orphanet.ordo:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:178563 Primary cutaneous B-cell lymphoma oboInOwl:hasDbXref UMLS:C1274310 semapv:UnspecifiedMatching -orphanet.ordo:178566 Mycosis fungoides and variants oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching -orphanet.ordo:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref MESH:C538182 semapv:UnspecifiedMatching -orphanet.ordo:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref MeSH:C538182 semapv:UnspecifiedMatching -orphanet.ordo:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref OMIM:101805 semapv:UnspecifiedMatching -orphanet.ordo:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref UMLS:C2931762 semapv:UnspecifiedMatching -orphanet.ordo:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref MESH:C538185 semapv:UnspecifiedMatching -orphanet.ordo:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref MeSH:C538185 semapv:UnspecifiedMatching -orphanet.ordo:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref OMIM:601829 semapv:UnspecifiedMatching -orphanet.ordo:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref UMLS:C1866168 semapv:UnspecifiedMatching -orphanet.ordo:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref MESH:C538183 semapv:UnspecifiedMatching -orphanet.ordo:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref MeSH:C538183 semapv:UnspecifiedMatching -orphanet.ordo:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref OMIM:201170 semapv:UnspecifiedMatching -orphanet.ordo:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref UMLS:C1860119 semapv:UnspecifiedMatching -orphanet.ordo:179 Birdshot chorioretinopathy oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching -orphanet.ordo:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MESH:C537630 semapv:UnspecifiedMatching -orphanet.ordo:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MeSH:C537630 semapv:UnspecifiedMatching -orphanet.ordo:179 Birdshot chorioretinopathy oboInOwl:hasDbXref OMIM:605808 semapv:UnspecifiedMatching -orphanet.ordo:179 Birdshot chorioretinopathy oboInOwl:hasDbXref UMLS:C1853959 semapv:UnspecifiedMatching -orphanet.ordo:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref MESH:C537154 semapv:UnspecifiedMatching -orphanet.ordo:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref MeSH:C537154 semapv:UnspecifiedMatching -orphanet.ordo:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref OMIM:241310 semapv:UnspecifiedMatching -orphanet.ordo:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref UMLS:C1855848 semapv:UnspecifiedMatching -orphanet.ordo:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref OMIM:229400 semapv:UnspecifiedMatching -orphanet.ordo:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref UMLS:C2931720 semapv:UnspecifiedMatching -orphanet.ordo:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching -orphanet.ordo:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref MESH:C537736 semapv:UnspecifiedMatching -orphanet.ordo:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref MeSH:C537736 semapv:UnspecifiedMatching -orphanet.ordo:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref UMLS:C1838348 semapv:UnspecifiedMatching -orphanet.ordo:179490 Obesity due to congenital leptin resistance oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref OMIM:614963 semapv:UnspecifiedMatching -orphanet.ordo:1795 Peripheral dysostosis oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:1795 Peripheral dysostosis oboInOwl:hasDbXref OMIM:170700 semapv:UnspecifiedMatching -orphanet.ordo:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching -orphanet.ordo:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref OMIM:122600 semapv:UnspecifiedMatching -orphanet.ordo:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref OMIM:122900 semapv:UnspecifiedMatching -orphanet.ordo:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref UMLS:C0432263 semapv:UnspecifiedMatching -orphanet.ordo:1799 Familial developmental dysphasia oboInOwl:hasDbXref ICD10:F80.1 semapv:UnspecifiedMatching -orphanet.ordo:1799 Familial developmental dysphasia oboInOwl:hasDbXref OMIM:600117 semapv:UnspecifiedMatching -orphanet.ordo:1799 Familial developmental dysphasia oboInOwl:hasDbXref UMLS:C1838630 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref MedDRA:10045224 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:179800 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:267300 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:611590 semapv:UnspecifiedMatching -orphanet.ordo:18 Distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1704380 semapv:UnspecifiedMatching -orphanet.ordo:180 Choroideremia oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching -orphanet.ordo:180 Choroideremia oboInOwl:hasDbXref MESH:D015794 semapv:UnspecifiedMatching -orphanet.ordo:180 Choroideremia oboInOwl:hasDbXref MeSH:D015794 semapv:UnspecifiedMatching -orphanet.ordo:180 Choroideremia oboInOwl:hasDbXref MedDRA:10008791 semapv:UnspecifiedMatching -orphanet.ordo:180 Choroideremia oboInOwl:hasDbXref OMIM:303100 semapv:UnspecifiedMatching -orphanet.ordo:180 Choroideremia oboInOwl:hasDbXref UMLS:C0008525 semapv:UnspecifiedMatching -orphanet.ordo:180071 Unilateral aplasia of the Müllerian ducts oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching -orphanet.ordo:180074 True unicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching -orphanet.ordo:180079 Pseudounicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching -orphanet.ordo:180086 Didelphys uterus oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching -orphanet.ordo:180086 Didelphys uterus oboInOwl:hasDbXref MedDRA:10012770 semapv:UnspecifiedMatching -orphanet.ordo:180086 Didelphys uterus oboInOwl:hasDbXref UMLS:C0266393 semapv:UnspecifiedMatching -orphanet.ordo:1801 Kyphomelic dysplasia oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:1801 Kyphomelic dysplasia oboInOwl:hasDbXref MESH:C538128 semapv:UnspecifiedMatching -orphanet.ordo:1801 Kyphomelic dysplasia oboInOwl:hasDbXref MeSH:C538128 semapv:UnspecifiedMatching -orphanet.ordo:1801 Kyphomelic dysplasia oboInOwl:hasDbXref OMIM:211350 semapv:UnspecifiedMatching -orphanet.ordo:1801 Kyphomelic dysplasia oboInOwl:hasDbXref UMLS:C0432239 semapv:UnspecifiedMatching -orphanet.ordo:180106 Bicervical bicornuate uterus and blind hemivagina oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching -orphanet.ordo:180111 Bicervical bicornuate uterus with patent cervix and vagina oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching -orphanet.ordo:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching -orphanet.ordo:180118 NON RARE IN EUROPE: Cordiform uterus oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching -orphanet.ordo:180122 Septate uterus oboInOwl:hasDbXref MedDRA:10062606 semapv:UnspecifiedMatching -orphanet.ordo:180122 Septate uterus oboInOwl:hasDbXref UMLS:C0152240 semapv:UnspecifiedMatching -orphanet.ordo:180126 Complete septate uterus oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching -orphanet.ordo:180129 Partial septate uterus oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching -orphanet.ordo:180134 Bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching -orphanet.ordo:180134 Bicornuate uterus oboInOwl:hasDbXref MedDRA:10004550 semapv:UnspecifiedMatching -orphanet.ordo:180134 Bicornuate uterus oboInOwl:hasDbXref UMLS:C0266387 semapv:UnspecifiedMatching -orphanet.ordo:180139 Uterine hypoplasia oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching -orphanet.ordo:180139 Uterine hypoplasia oboInOwl:hasDbXref MedDRA:10063146 semapv:UnspecifiedMatching -orphanet.ordo:180139 Uterine hypoplasia oboInOwl:hasDbXref UMLS:C0266399 semapv:UnspecifiedMatching -orphanet.ordo:180142 Absence of uterine body oboInOwl:hasDbXref ICD10:Q51.0 semapv:UnspecifiedMatching -orphanet.ordo:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref ICD10:Q51.5 semapv:UnspecifiedMatching -orphanet.ordo:180154 Septate vagina oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching -orphanet.ordo:180154 Septate vagina oboInOwl:hasDbXref UMLS:C0266411 semapv:UnspecifiedMatching -orphanet.ordo:180157 Longitudinal vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching -orphanet.ordo:180160 Transverse vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching -orphanet.ordo:180163 Rare breast malformation oboInOwl:hasDbXref UMLS:C0266008 semapv:UnspecifiedMatching -orphanet.ordo:180176 Familial juvenile hypertrophy of the breast oboInOwl:hasDbXref ICD10:N62 semapv:UnspecifiedMatching -orphanet.ordo:180176 Familial juvenile hypertrophy of the breast oboInOwl:hasDbXref OMIM:113670 semapv:UnspecifiedMatching -orphanet.ordo:180182 Supernumerary breasts oboInOwl:hasDbXref ICD10:Q83.1 semapv:UnspecifiedMatching -orphanet.ordo:180182 Supernumerary breasts oboInOwl:hasDbXref MedDRA:10049786 semapv:UnspecifiedMatching -orphanet.ordo:180182 Supernumerary breasts oboInOwl:hasDbXref UMLS:C0266010 semapv:UnspecifiedMatching -orphanet.ordo:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref ICD10:Q83.0 semapv:UnspecifiedMatching -orphanet.ordo:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref OMIM:113700 semapv:UnspecifiedMatching -orphanet.ordo:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref OMIM:616001 semapv:UnspecifiedMatching -orphanet.ordo:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref UMLS:C0432357 semapv:UnspecifiedMatching -orphanet.ordo:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:231095 semapv:UnspecifiedMatching -orphanet.ordo:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1856465 semapv:UnspecifiedMatching -orphanet.ordo:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching -orphanet.ordo:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:180226 Embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 semapv:UnspecifiedMatching -orphanet.ordo:180226 Embryonal carcinoma oboInOwl:hasDbXref MeSH:D018236 semapv:UnspecifiedMatching -orphanet.ordo:180226 Embryonal carcinoma oboInOwl:hasDbXref UMLS:C0206659 semapv:UnspecifiedMatching -orphanet.ordo:180229 Polyembryoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching -orphanet.ordo:180229 Polyembryoma oboInOwl:hasDbXref UMLS:C0334518 semapv:UnspecifiedMatching -orphanet.ordo:180234 Mixed germ cell tumor oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching -orphanet.ordo:180234 Mixed germ cell tumor oboInOwl:hasDbXref UMLS:C0334524 semapv:UnspecifiedMatching -orphanet.ordo:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref ICD10:D28.2 semapv:UnspecifiedMatching -orphanet.ordo:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10053865 semapv:UnspecifiedMatching -orphanet.ordo:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0346190 semapv:UnspecifiedMatching -orphanet.ordo:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref ICD10:C57.0 semapv:UnspecifiedMatching -orphanet.ordo:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10025915 semapv:UnspecifiedMatching -orphanet.ordo:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0153579 semapv:UnspecifiedMatching -orphanet.ordo:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching -orphanet.ordo:180247 Vaginal carcinoma oboInOwl:hasDbXref UMLS:C0262659 semapv:UnspecifiedMatching -orphanet.ordo:180250 Rare breast tumor oboInOwl:hasDbXref UMLS:C1458155 semapv:UnspecifiedMatching -orphanet.ordo:180253 Rare benign breast tumor oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching -orphanet.ordo:180253 Rare benign breast tumor oboInOwl:hasDbXref UMLS:C0346156 semapv:UnspecifiedMatching -orphanet.ordo:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref ICD10:D48.6 semapv:UnspecifiedMatching -orphanet.ordo:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching -orphanet.ordo:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MeSH:D003557 semapv:UnspecifiedMatching -orphanet.ordo:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MedDRA:10011813 semapv:UnspecifiedMatching -orphanet.ordo:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref UMLS:C0010701 semapv:UnspecifiedMatching -orphanet.ordo:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching -orphanet.ordo:180275 Paget disease of the nipple oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching -orphanet.ordo:180275 Paget disease of the nipple oboInOwl:hasDbXref MESH:D010144 semapv:UnspecifiedMatching -orphanet.ordo:180275 Paget disease of the nipple oboInOwl:hasDbXref MeSH:D010144 semapv:UnspecifiedMatching -orphanet.ordo:180275 Paget disease of the nipple oboInOwl:hasDbXref MedDRA:10033367 semapv:UnspecifiedMatching -orphanet.ordo:180275 Paget disease of the nipple oboInOwl:hasDbXref UMLS:C1704323 semapv:UnspecifiedMatching -orphanet.ordo:180284 NON RARE IN EUROPE: Benign ductal tumor of breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching -orphanet.ordo:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:1803 Thoracomelic dysplasia oboInOwl:hasDbXref OMIM:273740 semapv:UnspecifiedMatching -orphanet.ordo:1803 Thoracomelic dysplasia oboInOwl:hasDbXref UMLS:C1848863 semapv:UnspecifiedMatching -orphanet.ordo:1804 Dyssegmental dysplasia-glaucoma syndrome oboInOwl:hasDbXref OMIM:601561 semapv:UnspecifiedMatching -orphanet.ordo:1804 Dyssegmental dysplasia-glaucoma syndrome oboInOwl:hasDbXref UMLS:C1832111 semapv:UnspecifiedMatching -orphanet.ordo:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref OMIM:268320 semapv:UnspecifiedMatching -orphanet.ordo:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref UMLS:C1849332 semapv:UnspecifiedMatching -orphanet.ordo:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref MESH:C536385 semapv:UnspecifiedMatching -orphanet.ordo:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref MeSH:C536385 semapv:UnspecifiedMatching -orphanet.ordo:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref OMIM:227260 semapv:UnspecifiedMatching -orphanet.ordo:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref UMLS:C1744559 semapv:UnspecifiedMatching -orphanet.ordo:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref MESH:C536180 semapv:UnspecifiedMatching -orphanet.ordo:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref MeSH:C536180 semapv:UnspecifiedMatching -orphanet.ordo:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref OMIM:601375 semapv:UnspecifiedMatching -orphanet.ordo:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref UMLS:C1832411 semapv:UnspecifiedMatching -orphanet.ordo:180824 Rare tumor of pancreas oboInOwl:hasDbXref MedDRA:10061902 semapv:UnspecifiedMatching -orphanet.ordo:180824 Rare tumor of pancreas oboInOwl:hasDbXref UMLS:C0030297 semapv:UnspecifiedMatching -orphanet.ordo:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref UMLS:C2930953 semapv:UnspecifiedMatching -orphanet.ordo:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching -orphanet.ordo:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MeSH:D053358 semapv:UnspecifiedMatching -orphanet.ordo:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching -orphanet.ordo:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching -orphanet.ordo:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching -orphanet.ordo:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching -orphanet.ordo:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:617337 semapv:UnspecifiedMatching -orphanet.ordo:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0265331 semapv:UnspecifiedMatching -orphanet.ordo:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref MESH:C537741 semapv:UnspecifiedMatching -orphanet.ordo:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref MeSH:C537741 semapv:UnspecifiedMatching -orphanet.ordo:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref OMIM:601319 semapv:UnspecifiedMatching -orphanet.ordo:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref UMLS:C1832473 semapv:UnspecifiedMatching -orphanet.ordo:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref OMIM:225040 semapv:UnspecifiedMatching -orphanet.ordo:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref UMLS:C1857053 semapv:UnspecifiedMatching -orphanet.ordo:181368 Rare insulin-resistance syndrome oboInOwl:hasDbXref UMLS:C3714619 semapv:UnspecifiedMatching -orphanet.ordo:181371 Rare diabetes mellitus type 1 oboInOwl:hasDbXref UMLS:C0011854 semapv:UnspecifiedMatching -orphanet.ordo:181376 Rare diabetes mellitus type 2 oboInOwl:hasDbXref UMLS:C0011860 semapv:UnspecifiedMatching -orphanet.ordo:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C0271623 semapv:UnspecifiedMatching -orphanet.ordo:181393 Growth hormone insensitivity syndrome oboInOwl:hasDbXref UMLS:C0271568 semapv:UnspecifiedMatching -orphanet.ordo:181396 Rare hypothyroidism oboInOwl:hasDbXref UMLS:C0020676 semapv:UnspecifiedMatching -orphanet.ordo:181399 Rare hyperthyroidism oboInOwl:hasDbXref UMLS:C0020550 semapv:UnspecifiedMatching -orphanet.ordo:181405 Rare hypoparathyroidism oboInOwl:hasDbXref UMLS:C0020626 semapv:UnspecifiedMatching -orphanet.ordo:181408 Rare hyperparathyroidism oboInOwl:hasDbXref UMLS:C0020502 semapv:UnspecifiedMatching -orphanet.ordo:181412 Adrenogenital syndrome oboInOwl:hasDbXref MESH:D047808 semapv:UnspecifiedMatching -orphanet.ordo:181412 Adrenogenital syndrome oboInOwl:hasDbXref MeSH:D047808 semapv:UnspecifiedMatching -orphanet.ordo:181412 Adrenogenital syndrome oboInOwl:hasDbXref MedDRA:10061630 semapv:UnspecifiedMatching -orphanet.ordo:181412 Adrenogenital syndrome oboInOwl:hasDbXref UMLS:C0302280 semapv:UnspecifiedMatching -orphanet.ordo:181415 Rare primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C1384514 semapv:UnspecifiedMatching -orphanet.ordo:181419 Rare hypoaldosteronism oboInOwl:hasDbXref UMLS:C0020595 semapv:UnspecifiedMatching -orphanet.ordo:181422 Rare hyperlipidemia oboInOwl:hasDbXref UMLS:C0020473 semapv:UnspecifiedMatching -orphanet.ordo:181428 Hyperalphalipoproteinemia oboInOwl:hasDbXref UMLS:C0342883 semapv:UnspecifiedMatching -orphanet.ordo:181431 Rare hypolipidemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:246500 semapv:UnspecifiedMatching -orphanet.ordo:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1855504 semapv:UnspecifiedMatching -orphanet.ordo:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref OMIM:129510 semapv:UnspecifiedMatching -orphanet.ordo:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref UMLS:C1851858 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.0 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.1 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.2 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.8 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.9 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref MESH:D002862 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref MeSH:D002862 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref MedDRA:10008803 semapv:UnspecifiedMatching -orphanet.ordo:182 Chromomycosis oboInOwl:hasDbXref UMLS:C0008582 semapv:UnspecifiedMatching -orphanet.ordo:182047 Rare acquired hemolytic anemia oboInOwl:hasDbXref UMLS:C0002879 semapv:UnspecifiedMatching -orphanet.ordo:182050 MYH9-related disease oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:182050 MYH9-related disease oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching -orphanet.ordo:182050 MYH9-related disease oboInOwl:hasDbXref UMLS:C1854520 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref MeSH:D005910 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref MedDRA:10018338 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:607248 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:613028 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:613029 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:613030 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:613031 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:613032 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref OMIM:613033 semapv:UnspecifiedMatching -orphanet.ordo:182067 Glial tumor oboInOwl:hasDbXref UMLS:C0017638 semapv:UnspecifiedMatching -orphanet.ordo:182070 Rare neurodegenerative disease oboInOwl:hasDbXref UMLS:C0524851 semapv:UnspecifiedMatching -orphanet.ordo:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MESH:C536282 semapv:UnspecifiedMatching -orphanet.ordo:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MeSH:C536282 semapv:UnspecifiedMatching -orphanet.ordo:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10064911 semapv:UnspecifiedMatching -orphanet.ordo:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C2973725 semapv:UnspecifiedMatching -orphanet.ordo:182095 Interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching -orphanet.ordo:182095 Interstitial lung disease oboInOwl:hasDbXref MeSH:D017563 semapv:UnspecifiedMatching -orphanet.ordo:182095 Interstitial lung disease oboInOwl:hasDbXref MedDRA:10022611 semapv:UnspecifiedMatching -orphanet.ordo:182095 Interstitial lung disease oboInOwl:hasDbXref UMLS:C0206062 semapv:UnspecifiedMatching -orphanet.ordo:182098 Pneumoconiosis oboInOwl:hasDbXref MESH:D011009 semapv:UnspecifiedMatching -orphanet.ordo:182098 Pneumoconiosis oboInOwl:hasDbXref MeSH:D011009 semapv:UnspecifiedMatching -orphanet.ordo:182098 Pneumoconiosis oboInOwl:hasDbXref MedDRA:10035653 semapv:UnspecifiedMatching -orphanet.ordo:182098 Pneumoconiosis oboInOwl:hasDbXref UMLS:C0032273 semapv:UnspecifiedMatching -orphanet.ordo:182101 Idiopathic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C38.3 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C48.8 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref MESH:D018237 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref MeSH:D018237 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref MedDRA:10018207 semapv:UnspecifiedMatching -orphanet.ordo:182127 Extragonadal germinoma oboInOwl:hasDbXref UMLS:C0206660 semapv:UnspecifiedMatching -orphanet.ordo:182130 Tumor of endocrine glands oboInOwl:hasDbXref MedDRA:10061121 semapv:UnspecifiedMatching -orphanet.ordo:182130 Tumor of endocrine glands oboInOwl:hasDbXref UMLS:C0014132 semapv:UnspecifiedMatching -orphanet.ordo:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref MESH:C537997 semapv:UnspecifiedMatching -orphanet.ordo:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref MeSH:C537997 semapv:UnspecifiedMatching -orphanet.ordo:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref OMIM:127800 semapv:UnspecifiedMatching -orphanet.ordo:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref UMLS:C0432282 semapv:UnspecifiedMatching -orphanet.ordo:1824 Lowry-Wood syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MESH:C537038 semapv:UnspecifiedMatching -orphanet.ordo:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MeSH:C537038 semapv:UnspecifiedMatching -orphanet.ordo:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MedDRA:10062600 semapv:UnspecifiedMatching -orphanet.ordo:1824 Lowry-Wood syndrome oboInOwl:hasDbXref OMIM:226960 semapv:UnspecifiedMatching -orphanet.ordo:1824 Lowry-Wood syndrome oboInOwl:hasDbXref UMLS:C0796021 semapv:UnspecifiedMatching -orphanet.ordo:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref MESH:C538064 semapv:UnspecifiedMatching -orphanet.ordo:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref MeSH:C538064 semapv:UnspecifiedMatching -orphanet.ordo:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:305620 semapv:UnspecifiedMatching -orphanet.ordo:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:617137 semapv:UnspecifiedMatching -orphanet.ordo:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265293 semapv:UnspecifiedMatching -orphanet.ordo:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref MESH:C535657 semapv:UnspecifiedMatching -orphanet.ordo:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref MeSH:C535657 semapv:UnspecifiedMatching -orphanet.ordo:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref OMIM:603671 semapv:UnspecifiedMatching -orphanet.ordo:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref UMLS:C0796182 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M30.1 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:C531653 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D015267 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MeSH:C531653 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MeSH:D015267 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10048594 semapv:UnspecifiedMatching -orphanet.ordo:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C0008728 semapv:UnspecifiedMatching -orphanet.ordo:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 semapv:UnspecifiedMatching -orphanet.ordo:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MeSH:C536629 semapv:UnspecifiedMatching -orphanet.ordo:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MedDRA:10048699 semapv:UnspecifiedMatching -orphanet.ordo:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref OMIM:242900 semapv:UnspecifiedMatching -orphanet.ordo:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0877024 semapv:UnspecifiedMatching -orphanet.ordo:1831 De Hauwere syndrome oboInOwl:hasDbXref MESH:C535537 semapv:UnspecifiedMatching -orphanet.ordo:1831 De Hauwere syndrome oboInOwl:hasDbXref MeSH:C535537 semapv:UnspecifiedMatching -orphanet.ordo:1831 De Hauwere syndrome oboInOwl:hasDbXref OMIM:109120 semapv:UnspecifiedMatching -orphanet.ordo:1831 De Hauwere syndrome oboInOwl:hasDbXref UMLS:C2930925 semapv:UnspecifiedMatching -orphanet.ordo:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref OMIM:259775 semapv:UnspecifiedMatching -orphanet.ordo:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref UMLS:C1850106 semapv:UnspecifiedMatching -orphanet.ordo:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref MESH:C537790 semapv:UnspecifiedMatching -orphanet.ordo:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref MeSH:C537790 semapv:UnspecifiedMatching -orphanet.ordo:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref UMLS:C2931613 semapv:UnspecifiedMatching -orphanet.ordo:183435 Inherited ichthyosis oboInOwl:hasDbXref MedDRA:10021202 semapv:UnspecifiedMatching -orphanet.ordo:183435 Inherited ichthyosis oboInOwl:hasDbXref UMLS:C0856562 semapv:UnspecifiedMatching -orphanet.ordo:183518 Hereditary ataxia oboInOwl:hasDbXref UMLS:C0004138 semapv:UnspecifiedMatching -orphanet.ordo:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref MESH:C535547 semapv:UnspecifiedMatching -orphanet.ordo:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref MeSH:C535547 semapv:UnspecifiedMatching -orphanet.ordo:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref OMIM:156232 semapv:UnspecifiedMatching -orphanet.ordo:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref OMIM:613681 semapv:UnspecifiedMatching -orphanet.ordo:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref UMLS:C1835009 semapv:UnspecifiedMatching -orphanet.ordo:183660 Severe combined immunodeficiency oboInOwl:hasDbXref MESH:D016511 semapv:UnspecifiedMatching -orphanet.ordo:183660 Severe combined immunodeficiency oboInOwl:hasDbXref MeSH:D016511 semapv:UnspecifiedMatching -orphanet.ordo:183660 Severe combined immunodeficiency oboInOwl:hasDbXref MedDRA:10069566 semapv:UnspecifiedMatching -orphanet.ordo:183660 Severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C0085110 semapv:UnspecifiedMatching -orphanet.ordo:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching -orphanet.ordo:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching -orphanet.ordo:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching -orphanet.ordo:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching -orphanet.ordo:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching -orphanet.ordo:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching -orphanet.ordo:183669 Agammaglobulinemia oboInOwl:hasDbXref MESH:D000361 semapv:UnspecifiedMatching -orphanet.ordo:183669 Agammaglobulinemia oboInOwl:hasDbXref MeSH:D000361 semapv:UnspecifiedMatching -orphanet.ordo:183669 Agammaglobulinemia oboInOwl:hasDbXref MedDRA:10001471 semapv:UnspecifiedMatching -orphanet.ordo:183669 Agammaglobulinemia oboInOwl:hasDbXref UMLS:C0001768 semapv:UnspecifiedMatching -orphanet.ordo:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching -orphanet.ordo:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref OMIM:614102 semapv:UnspecifiedMatching -orphanet.ordo:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref UMLS:C3279824 semapv:UnspecifiedMatching -orphanet.ordo:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:608233 semapv:UnspecifiedMatching -orphanet.ordo:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:617050 semapv:UnspecifiedMatching -orphanet.ordo:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref UMLS:C1842362 semapv:UnspecifiedMatching -orphanet.ordo:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref MESH:C536935 semapv:UnspecifiedMatching -orphanet.ordo:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref MeSH:C536935 semapv:UnspecifiedMatching -orphanet.ordo:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:191420 semapv:UnspecifiedMatching -orphanet.ordo:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1860615 semapv:UnspecifiedMatching -orphanet.ordo:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -orphanet.ordo:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching -orphanet.ordo:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:618987 semapv:UnspecifiedMatching -orphanet.ordo:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1842398 semapv:UnspecifiedMatching -orphanet.ordo:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref OMIM:612260 semapv:UnspecifiedMatching -orphanet.ordo:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref UMLS:C2677092 semapv:UnspecifiedMatching -orphanet.ordo:1838 Metaphyseal dysplasia without hypotrichosis oboInOwl:hasDbXref OMIM:250460 semapv:UnspecifiedMatching -orphanet.ordo:1838 Metaphyseal dysplasia without hypotrichosis oboInOwl:hasDbXref UMLS:C1834821 semapv:UnspecifiedMatching -orphanet.ordo:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref ICD10:K13.7 semapv:UnspecifiedMatching -orphanet.ordo:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref OMIM:158310 semapv:UnspecifiedMatching -orphanet.ordo:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref UMLS:C1274795 semapv:UnspecifiedMatching -orphanet.ordo:184 Cherubism oboInOwl:hasDbXref ICD10:K10.8 semapv:UnspecifiedMatching -orphanet.ordo:184 Cherubism oboInOwl:hasDbXref MESH:D002636 semapv:UnspecifiedMatching -orphanet.ordo:184 Cherubism oboInOwl:hasDbXref MeSH:D002636 semapv:UnspecifiedMatching -orphanet.ordo:184 Cherubism oboInOwl:hasDbXref MedDRA:10070535 semapv:UnspecifiedMatching -orphanet.ordo:184 Cherubism oboInOwl:hasDbXref OMIM:118400 semapv:UnspecifiedMatching -orphanet.ordo:184 Cherubism oboInOwl:hasDbXref UMLS:C0008029 semapv:UnspecifiedMatching -orphanet.ordo:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref OMIM:211120 semapv:UnspecifiedMatching -orphanet.ordo:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref UMLS:C1859407 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref MESH:C536482 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref MeSH:C536482 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:191830 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:615721 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:617805 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:619887 semapv:UnspecifiedMatching -orphanet.ordo:1848 Renal agenesis, bilateral oboInOwl:hasDbXref UMLS:C1609433 semapv:UnspecifiedMatching -orphanet.ordo:185 Scimitar syndrome oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:185 Scimitar syndrome oboInOwl:hasDbXref MESH:D012587 semapv:UnspecifiedMatching -orphanet.ordo:185 Scimitar syndrome oboInOwl:hasDbXref MeSH:D012587 semapv:UnspecifiedMatching -orphanet.ordo:185 Scimitar syndrome oboInOwl:hasDbXref MedDRA:10051951 semapv:UnspecifiedMatching -orphanet.ordo:185 Scimitar syndrome oboInOwl:hasDbXref UMLS:C0036400 semapv:UnspecifiedMatching -orphanet.ordo:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching -orphanet.ordo:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref MESH:D021782 semapv:UnspecifiedMatching -orphanet.ordo:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref MeSH:D021782 semapv:UnspecifiedMatching -orphanet.ordo:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C3714581 semapv:UnspecifiedMatching -orphanet.ordo:1852 X-linked retinal dysplasia oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching -orphanet.ordo:1852 X-linked retinal dysplasia oboInOwl:hasDbXref OMIM:312550 semapv:UnspecifiedMatching -orphanet.ordo:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref MESH:C535782 semapv:UnspecifiedMatching -orphanet.ordo:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref MeSH:C535782 semapv:UnspecifiedMatching -orphanet.ordo:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref OMIM:607944 semapv:UnspecifiedMatching -orphanet.ordo:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref UMLS:C0432222 semapv:UnspecifiedMatching -orphanet.ordo:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref MESH:C535799 semapv:UnspecifiedMatching -orphanet.ordo:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref MeSH:C535799 semapv:UnspecifiedMatching -orphanet.ordo:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref OMIM:271700 semapv:UnspecifiedMatching -orphanet.ordo:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref UMLS:C0796173 semapv:UnspecifiedMatching -orphanet.ordo:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref OMIM:601187 semapv:UnspecifiedMatching -orphanet.ordo:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref UMLS:C0796046 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref MedDRA:10004661 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref MedDRA:10019137 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:109720 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:613007 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:613008 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614220 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614221 semapv:UnspecifiedMatching -orphanet.ordo:186 Primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0008312 semapv:UnspecifiedMatching -orphanet.ordo:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching -orphanet.ordo:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching -orphanet.ordo:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref UMLS:C1868678 semapv:UnspecifiedMatching -orphanet.ordo:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:273730 semapv:UnspecifiedMatching -orphanet.ordo:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C1848864 semapv:UnspecifiedMatching -orphanet.ordo:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref OMIM:224410 semapv:UnspecifiedMatching -orphanet.ordo:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref OMIM:302000 semapv:UnspecifiedMatching -orphanet.ordo:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref UMLS:C0795974 semapv:UnspecifiedMatching -orphanet.ordo:187 Citrullinemia oboInOwl:hasDbXref MESH:D020159 semapv:UnspecifiedMatching -orphanet.ordo:187 Citrullinemia oboInOwl:hasDbXref MeSH:D020159 semapv:UnspecifiedMatching -orphanet.ordo:187 Citrullinemia oboInOwl:hasDbXref UMLS:C0175683 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:180020 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:300085 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:304030 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:613093 semapv:UnspecifiedMatching -orphanet.ordo:1871 Progressive cone dystrophy oboInOwl:hasDbXref UMLS:C0271092 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:120970 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:300476 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:300834 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:304020 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:600624 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:600977 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:601777 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:603649 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:604116 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:605549 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:608194 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610283 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610381 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610478 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:612657 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:612775 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:613660 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:614500 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615163 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615374 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615860 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615973 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:616502 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:618555 semapv:UnspecifiedMatching -orphanet.ordo:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:619531 semapv:UnspecifiedMatching -orphanet.ordo:1873 Jalili syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:1873 Jalili syndrome oboInOwl:hasDbXref OMIM:217080 semapv:UnspecifiedMatching -orphanet.ordo:1873 Jalili syndrome oboInOwl:hasDbXref UMLS:C3495589 semapv:UnspecifiedMatching -orphanet.ordo:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref OMIM:254000 semapv:UnspecifiedMatching -orphanet.ordo:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931578 semapv:UnspecifiedMatching -orphanet.ordo:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching -orphanet.ordo:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref MeSH:C536350 semapv:UnspecifiedMatching -orphanet.ordo:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref OMIM:277320 semapv:UnspecifiedMatching -orphanet.ordo:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref UMLS:C1848586 semapv:UnspecifiedMatching -orphanet.ordo:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref OMIM:254110 semapv:UnspecifiedMatching -orphanet.ordo:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref UMLS:C0270968 semapv:UnspecifiedMatching -orphanet.ordo:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref UMLS:C3149695 semapv:UnspecifiedMatching -orphanet.ordo:188 Systemic capillary leak syndrome oboInOwl:hasDbXref ICD10:I78.8 semapv:UnspecifiedMatching -orphanet.ordo:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching -orphanet.ordo:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MeSH:D019559 semapv:UnspecifiedMatching -orphanet.ordo:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MedDRA:10007196 semapv:UnspecifiedMatching -orphanet.ordo:188 Systemic capillary leak syndrome oboInOwl:hasDbXref UMLS:C0343084 semapv:UnspecifiedMatching -orphanet.ordo:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref ICD10:Q22.5 semapv:UnspecifiedMatching -orphanet.ordo:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref MedDRA:10014075 semapv:UnspecifiedMatching -orphanet.ordo:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref OMIM:224700 semapv:UnspecifiedMatching -orphanet.ordo:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref UMLS:C0013481 semapv:UnspecifiedMatching -orphanet.ordo:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref OMIM:225050 semapv:UnspecifiedMatching -orphanet.ordo:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1857052 semapv:UnspecifiedMatching -orphanet.ordo:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:224800 semapv:UnspecifiedMatching -orphanet.ordo:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1857068 semapv:UnspecifiedMatching -orphanet.ordo:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref UMLS:C2931115 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref ICD10:Q12.1 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref MESH:C536184 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref MESH:D004479 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref MeSH:C536184 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref MeSH:D004479 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref MedDRA:10014145 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:129600 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:225100 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:225200 semapv:UnspecifiedMatching -orphanet.ordo:1885 Isolated ectopia lentis oboInOwl:hasDbXref UMLS:C1851286 semapv:UnspecifiedMatching -orphanet.ordo:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome oboInOwl:hasDbXref OMIM:129810 semapv:UnspecifiedMatching -orphanet.ordo:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome oboInOwl:hasDbXref UMLS:C1851849 semapv:UnspecifiedMatching -orphanet.ordo:1889 Ectrodactyly-cleft palate syndrome oboInOwl:hasDbXref OMIM:129830 semapv:UnspecifiedMatching -orphanet.ordo:1889 Ectrodactyly-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1851848 semapv:UnspecifiedMatching -orphanet.ordo:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching -orphanet.ordo:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162361 semapv:UnspecifiedMatching -orphanet.ordo:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:246555 semapv:UnspecifiedMatching -orphanet.ordo:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C0796001 semapv:UnspecifiedMatching -orphanet.ordo:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q69.9 semapv:UnspecifiedMatching -orphanet.ordo:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref OMIM:225290 semapv:UnspecifiedMatching -orphanet.ordo:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref UMLS:C1857040 semapv:UnspecifiedMatching -orphanet.ordo:1894 Ectrodactyly-spina bifida-cardiopathy syndrome oboInOwl:hasDbXref UMLS:C2931393 semapv:UnspecifiedMatching -orphanet.ordo:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching -orphanet.ordo:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref OMIM:219080 semapv:UnspecifiedMatching -orphanet.ordo:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref OMIM:615954 semapv:UnspecifiedMatching -orphanet.ordo:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching -orphanet.ordo:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching -orphanet.ordo:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref ICD10:Q95.2 semapv:UnspecifiedMatching -orphanet.ordo:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref OMIM:129850 semapv:UnspecifiedMatching -orphanet.ordo:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref UMLS:C0795933 semapv:UnspecifiedMatching -orphanet.ordo:1896 EEC syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:1896 EEC syndrome oboInOwl:hasDbXref OMIM:129900 semapv:UnspecifiedMatching -orphanet.ordo:1896 EEC syndrome oboInOwl:hasDbXref OMIM:604292 semapv:UnspecifiedMatching -orphanet.ordo:1896 EEC syndrome oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching -orphanet.ordo:1897 EEM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1897 EEM syndrome oboInOwl:hasDbXref OMIM:225280 semapv:UnspecifiedMatching -orphanet.ordo:1897 EEM syndrome oboInOwl:hasDbXref UMLS:C1857041 semapv:UnspecifiedMatching -orphanet.ordo:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130060 semapv:UnspecifiedMatching -orphanet.ordo:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617821 semapv:UnspecifiedMatching -orphanet.ordo:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268345 semapv:UnspecifiedMatching -orphanet.ordo:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C2746066 semapv:UnspecifiedMatching -orphanet.ordo:190 Coats disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:190 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMatching -orphanet.ordo:190 Coats disease oboInOwl:hasDbXref MeSH:D058456 semapv:UnspecifiedMatching -orphanet.ordo:190 Coats disease oboInOwl:hasDbXref MedDRA:10015901 semapv:UnspecifiedMatching -orphanet.ordo:190 Coats disease oboInOwl:hasDbXref OMIM:300216 semapv:UnspecifiedMatching -orphanet.ordo:190 Coats disease oboInOwl:hasDbXref UMLS:C0154832 semapv:UnspecifiedMatching -orphanet.ordo:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching -orphanet.ordo:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref UMLS:C0268342 semapv:UnspecifiedMatching -orphanet.ordo:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225410 semapv:UnspecifiedMatching -orphanet.ordo:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2700425 semapv:UnspecifiedMatching -orphanet.ordo:1902 Ehrlichiosis oboInOwl:hasDbXref ICD10:A48.8 semapv:UnspecifiedMatching -orphanet.ordo:1902 Ehrlichiosis oboInOwl:hasDbXref MESH:D016873 semapv:UnspecifiedMatching -orphanet.ordo:1902 Ehrlichiosis oboInOwl:hasDbXref MeSH:D016873 semapv:UnspecifiedMatching -orphanet.ordo:1902 Ehrlichiosis oboInOwl:hasDbXref UMLS:C0085399 semapv:UnspecifiedMatching -orphanet.ordo:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MESH:C536525 semapv:UnspecifiedMatching -orphanet.ordo:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MeSH:C536525 semapv:UnspecifiedMatching -orphanet.ordo:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MedDRA:10016524 semapv:UnspecifiedMatching -orphanet.ordo:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref OMIM:609442 semapv:UnspecifiedMatching -orphanet.ordo:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref UMLS:C0236026 semapv:UnspecifiedMatching -orphanet.ordo:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref MedDRA:10071183 semapv:UnspecifiedMatching -orphanet.ordo:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref UMLS:C0432367 semapv:UnspecifiedMatching -orphanet.ordo:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref MESH:D003057 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref MeSH:D003057 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref MedDRA:10009835 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:216411 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching -orphanet.ordo:191 Cockayne syndrome oboInOwl:hasDbXref UMLS:C0009207 semapv:UnspecifiedMatching -orphanet.ordo:1910 Fetal iodine syndrome oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching -orphanet.ordo:1910 Fetal iodine syndrome oboInOwl:hasDbXref OMIM:228355 semapv:UnspecifiedMatching -orphanet.ordo:1910 Fetal iodine syndrome oboInOwl:hasDbXref UMLS:C0342200 semapv:UnspecifiedMatching -orphanet.ordo:1911 Cocaine embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1911 Cocaine embryofetopathy oboInOwl:hasDbXref UMLS:C0432371 semapv:UnspecifiedMatching -orphanet.ordo:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref ICD10:Q86.1 semapv:UnspecifiedMatching -orphanet.ordo:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref MESH:C537922 semapv:UnspecifiedMatching -orphanet.ordo:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref MeSH:C537922 semapv:UnspecifiedMatching -orphanet.ordo:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref MedDRA:10016508 semapv:UnspecifiedMatching -orphanet.ordo:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref UMLS:C0265372 semapv:UnspecifiedMatching -orphanet.ordo:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref MESH:C537798 semapv:UnspecifiedMatching -orphanet.ordo:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref MeSH:C537798 semapv:UnspecifiedMatching -orphanet.ordo:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref UMLS:C0265373 semapv:UnspecifiedMatching -orphanet.ordo:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref ICD10:Q86.2 semapv:UnspecifiedMatching -orphanet.ordo:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref MedDRA:10051445 semapv:UnspecifiedMatching -orphanet.ordo:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref UMLS:C0265374 semapv:UnspecifiedMatching -orphanet.ordo:1915 Fetal alcohol syndrome oboInOwl:hasDbXref ICD10:Q86.0 semapv:UnspecifiedMatching -orphanet.ordo:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MESH:D005310 semapv:UnspecifiedMatching -orphanet.ordo:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MeSH:D005310 semapv:UnspecifiedMatching -orphanet.ordo:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MedDRA:10016845 semapv:UnspecifiedMatching -orphanet.ordo:1915 Fetal alcohol syndrome oboInOwl:hasDbXref UMLS:C0015923 semapv:UnspecifiedMatching -orphanet.ordo:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref MedDRA:10012780 semapv:UnspecifiedMatching -orphanet.ordo:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref UMLS:C0853695 semapv:UnspecifiedMatching -orphanet.ordo:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching -orphanet.ordo:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref UMLS:C0265376 semapv:UnspecifiedMatching -orphanet.ordo:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref UMLS:C0432373 semapv:UnspecifiedMatching -orphanet.ordo:1919 Phenobarbital embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:192 Coffin-Lowry syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:192 Coffin-Lowry syndrome oboInOwl:hasDbXref MESH:D038921 semapv:UnspecifiedMatching -orphanet.ordo:192 Coffin-Lowry syndrome oboInOwl:hasDbXref MeSH:D038921 semapv:UnspecifiedMatching -orphanet.ordo:192 Coffin-Lowry syndrome oboInOwl:hasDbXref OMIM:303600 semapv:UnspecifiedMatching -orphanet.ordo:192 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS:C0265252 semapv:UnspecifiedMatching -orphanet.ordo:1920 Toluene embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1923 Methimazole embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:1926 Diabetic embryopathy oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching -orphanet.ordo:1927 Emery-Nelson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1927 Emery-Nelson syndrome oboInOwl:hasDbXref OMIM:139750 semapv:UnspecifiedMatching -orphanet.ordo:1927 Emery-Nelson syndrome oboInOwl:hasDbXref UMLS:C1841693 semapv:UnspecifiedMatching -orphanet.ordo:1928 Congenital lobar emphysema oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching -orphanet.ordo:1928 Congenital lobar emphysema oboInOwl:hasDbXref MESH:C535735 semapv:UnspecifiedMatching -orphanet.ordo:1928 Congenital lobar emphysema oboInOwl:hasDbXref MeSH:C535735 semapv:UnspecifiedMatching -orphanet.ordo:1928 Congenital lobar emphysema oboInOwl:hasDbXref MedDRA:10010456 semapv:UnspecifiedMatching -orphanet.ordo:1928 Congenital lobar emphysema oboInOwl:hasDbXref OMIM:130710 semapv:UnspecifiedMatching -orphanet.ordo:1928 Congenital lobar emphysema oboInOwl:hasDbXref UMLS:C0265797 semapv:UnspecifiedMatching -orphanet.ordo:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MESH:C535291 semapv:UnspecifiedMatching -orphanet.ordo:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MeSH:C535291 semapv:UnspecifiedMatching -orphanet.ordo:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref UMLS:C2930868 semapv:UnspecifiedMatching -orphanet.ordo:193 Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:193 Cohen syndrome oboInOwl:hasDbXref MESH:C536438 semapv:UnspecifiedMatching -orphanet.ordo:193 Cohen syndrome oboInOwl:hasDbXref MeSH:C536438 semapv:UnspecifiedMatching -orphanet.ordo:193 Cohen syndrome oboInOwl:hasDbXref MedDRA:10049066 semapv:UnspecifiedMatching -orphanet.ordo:193 Cohen syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching -orphanet.ordo:193 Cohen syndrome oboInOwl:hasDbXref UMLS:C0265223 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:B00.4+ semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:610551 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:613002 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614849 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614850 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:616532 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:617900 semapv:UnspecifiedMatching -orphanet.ordo:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref UMLS:C0276226 semapv:UnspecifiedMatching -orphanet.ordo:1931 Frontal encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching -orphanet.ordo:1931 Frontal encephalocele oboInOwl:hasDbXref UMLS:C0431289 semapv:UnspecifiedMatching -orphanet.ordo:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref MedDRA:10071545 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:609304 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:613402 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:613721 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617276 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617350 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617389 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617391 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617493 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617599 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:618548 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:619340 semapv:UnspecifiedMatching -orphanet.ordo:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref UMLS:C0393706 semapv:UnspecifiedMatching -orphanet.ordo:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:609304 semapv:UnspecifiedMatching -orphanet.ordo:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching -orphanet.ordo:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:617105 semapv:UnspecifiedMatching -orphanet.ordo:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref UMLS:C0270855 semapv:UnspecifiedMatching -orphanet.ordo:1937 Eng-Strom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:1937 Eng-Strom syndrome oboInOwl:hasDbXref OMIM:135950 semapv:UnspecifiedMatching -orphanet.ordo:1937 Eng-Strom syndrome oboInOwl:hasDbXref UMLS:C2931545 semapv:UnspecifiedMatching -orphanet.ordo:1941 Juvenile absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:1941 Juvenile absence epilepsy oboInOwl:hasDbXref MESH:C535495 semapv:UnspecifiedMatching -orphanet.ordo:1941 Juvenile absence epilepsy oboInOwl:hasDbXref MeSH:C535495 semapv:UnspecifiedMatching -orphanet.ordo:1941 Juvenile absence epilepsy oboInOwl:hasDbXref OMIM:607631 semapv:UnspecifiedMatching -orphanet.ordo:1941 Juvenile absence epilepsy oboInOwl:hasDbXref UMLS:C2930918 semapv:UnspecifiedMatching -orphanet.ordo:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching -orphanet.ordo:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:616421 semapv:UnspecifiedMatching -orphanet.ordo:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:618587 semapv:UnspecifiedMatching -orphanet.ordo:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref UMLS:C0393702 semapv:UnspecifiedMatching -orphanet.ordo:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:1945 Rolandic epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:117100 semapv:UnspecifiedMatching -orphanet.ordo:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching -orphanet.ordo:1945 Rolandic epilepsy oboInOwl:hasDbXref UMLS:C0376532 semapv:UnspecifiedMatching -orphanet.ordo:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref OMIM:226750 semapv:UnspecifiedMatching -orphanet.ordo:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref UMLS:C0406740 semapv:UnspecifiedMatching -orphanet.ordo:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref OMIM:610003 semapv:UnspecifiedMatching -orphanet.ordo:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref UMLS:C1864923 semapv:UnspecifiedMatching -orphanet.ordo:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref MESH:C537662 semapv:UnspecifiedMatching -orphanet.ordo:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref MeSH:C537662 semapv:UnspecifiedMatching -orphanet.ordo:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:601352 semapv:UnspecifiedMatching -orphanet.ordo:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C2931579 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:C535466 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MeSH:C535466 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MeSH:D020936 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MedDRA:10067866 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:269720 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:608217 semapv:UnspecifiedMatching -orphanet.ordo:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching -orphanet.ordo:195 Cat-eye syndrome oboInOwl:hasDbXref ICD10:Q92.8 semapv:UnspecifiedMatching -orphanet.ordo:195 Cat-eye syndrome oboInOwl:hasDbXref MESH:C535918 semapv:UnspecifiedMatching -orphanet.ordo:195 Cat-eye syndrome oboInOwl:hasDbXref MeSH:C535918 semapv:UnspecifiedMatching -orphanet.ordo:195 Cat-eye syndrome oboInOwl:hasDbXref OMIM:115470 semapv:UnspecifiedMatching -orphanet.ordo:195 Cat-eye syndrome oboInOwl:hasDbXref UMLS:C0265493 semapv:UnspecifiedMatching -orphanet.ordo:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref MESH:C535497 semapv:UnspecifiedMatching -orphanet.ordo:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref MeSH:C535497 semapv:UnspecifiedMatching -orphanet.ordo:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref OMIM:226850 semapv:UnspecifiedMatching -orphanet.ordo:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref UMLS:C1856929 semapv:UnspecifiedMatching -orphanet.ordo:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref MESH:C538095 semapv:UnspecifiedMatching -orphanet.ordo:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref MeSH:C538095 semapv:UnspecifiedMatching -orphanet.ordo:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref OMIM:167220 semapv:UnspecifiedMatching -orphanet.ordo:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref UMLS:C1833676 semapv:UnspecifiedMatching -orphanet.ordo:1954 Congenital lethal erythroderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:1954 Congenital lethal erythroderma oboInOwl:hasDbXref MESH:C535513 semapv:UnspecifiedMatching -orphanet.ordo:1954 Congenital lethal erythroderma oboInOwl:hasDbXref MeSH:C535513 semapv:UnspecifiedMatching -orphanet.ordo:1954 Congenital lethal erythroderma oboInOwl:hasDbXref OMIM:227090 semapv:UnspecifiedMatching -orphanet.ordo:1954 Congenital lethal erythroderma oboInOwl:hasDbXref UMLS:C1856898 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MESH:C535514 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MESH:C535738 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MeSH:C535514 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MeSH:C535738 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref OMIM:133190 semapv:UnspecifiedMatching -orphanet.ordo:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref UMLS:C1851481 semapv:UnspecifiedMatching -orphanet.ordo:1957 Esthesioneuroblastoma oboInOwl:hasDbXref ICD10:C30.0 semapv:UnspecifiedMatching -orphanet.ordo:1957 Esthesioneuroblastoma oboInOwl:hasDbXref UMLS:C0206717 semapv:UnspecifiedMatching -orphanet.ordo:1959 Evans syndrome oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching -orphanet.ordo:1959 Evans syndrome oboInOwl:hasDbXref MedDRA:10053873 semapv:UnspecifiedMatching -orphanet.ordo:1959 Evans syndrome oboInOwl:hasDbXref UMLS:C0272126 semapv:UnspecifiedMatching -orphanet.ordo:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref OMIM:133690 semapv:UnspecifiedMatching -orphanet.ordo:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref UMLS:C1851428 semapv:UnspecifiedMatching -orphanet.ordo:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref OMIM:133750 semapv:UnspecifiedMatching -orphanet.ordo:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1851412 semapv:UnspecifiedMatching -orphanet.ordo:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref OMIM:182150 semapv:UnspecifiedMatching -orphanet.ordo:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref UMLS:C1866962 semapv:UnspecifiedMatching -orphanet.ordo:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref MESH:C536384 semapv:UnspecifiedMatching -orphanet.ordo:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref MeSH:C536384 semapv:UnspecifiedMatching -orphanet.ordo:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref UMLS:C2931183 semapv:UnspecifiedMatching -orphanet.ordo:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref OMIM:220219 semapv:UnspecifiedMatching -orphanet.ordo:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref UMLS:C1857352 semapv:UnspecifiedMatching -orphanet.ordo:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref OMIM:227270 semapv:UnspecifiedMatching -orphanet.ordo:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref UMLS:C1856891 semapv:UnspecifiedMatching -orphanet.ordo:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref MESH:C536388 semapv:UnspecifiedMatching -orphanet.ordo:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref MeSH:C536388 semapv:UnspecifiedMatching -orphanet.ordo:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref OMIM:227280 semapv:UnspecifiedMatching -orphanet.ordo:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref UMLS:C0795936 semapv:UnspecifiedMatching -orphanet.ordo:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref OMIM:227330 semapv:UnspecifiedMatching -orphanet.ordo:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref UMLS:C1856871 semapv:UnspecifiedMatching -orphanet.ordo:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref OMIM:233805 semapv:UnspecifiedMatching -orphanet.ordo:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref UMLS:C2931279 semapv:UnspecifiedMatching -orphanet.ordo:198 Occipital horn syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching -orphanet.ordo:198 Occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 semapv:UnspecifiedMatching -orphanet.ordo:198 Occipital horn syndrome oboInOwl:hasDbXref MeSH:C537860 semapv:UnspecifiedMatching -orphanet.ordo:198 Occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 semapv:UnspecifiedMatching -orphanet.ordo:198 Occipital horn syndrome oboInOwl:hasDbXref UMLS:C0268353 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref MedDRA:10059626 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:213600 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615007 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615483 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:616413 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:618824 semapv:UnspecifiedMatching -orphanet.ordo:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref UMLS:C0393590 semapv:UnspecifiedMatching -orphanet.ordo:1983 NON RARE IN EUROPE: Chronic fatigue syndrome oboInOwl:hasDbXref ICD10:G93.3 semapv:UnspecifiedMatching -orphanet.ordo:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:1984 Fechtner syndrome oboInOwl:hasDbXref MESH:C537078 semapv:UnspecifiedMatching -orphanet.ordo:1984 Fechtner syndrome oboInOwl:hasDbXref MeSH:C537078 semapv:UnspecifiedMatching -orphanet.ordo:1984 Fechtner syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching -orphanet.ordo:1984 Fechtner syndrome oboInOwl:hasDbXref UMLS:C0403445 semapv:UnspecifiedMatching -orphanet.ordo:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref OMIM:228250 semapv:UnspecifiedMatching -orphanet.ordo:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref UMLS:C1856789 semapv:UnspecifiedMatching -orphanet.ordo:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching -orphanet.ordo:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0345375 semapv:UnspecifiedMatching -orphanet.ordo:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1988 Femoral-facial syndrome oboInOwl:hasDbXref MESH:C537916 semapv:UnspecifiedMatching -orphanet.ordo:1988 Femoral-facial syndrome oboInOwl:hasDbXref MeSH:C537916 semapv:UnspecifiedMatching -orphanet.ordo:1988 Femoral-facial syndrome oboInOwl:hasDbXref OMIM:134780 semapv:UnspecifiedMatching -orphanet.ordo:1988 Femoral-facial syndrome oboInOwl:hasDbXref UMLS:C0265263 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MESH:D003635 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MeSH:D003635 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MedDRA:10056354 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:122470 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:300590 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:300882 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:610759 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:614701 semapv:UnspecifiedMatching -orphanet.ordo:199 Cornelia de Lange syndrome oboInOwl:hasDbXref UMLS:C0270972 semapv:UnspecifiedMatching -orphanet.ordo:1991 Cleft lip with or without cleft palate oboInOwl:hasDbXref UMLS:C0008924 semapv:UnspecifiedMatching -orphanet.ordo:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MESH:C535861 semapv:UnspecifiedMatching -orphanet.ordo:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MeSH:C535861 semapv:UnspecifiedMatching -orphanet.ordo:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref OMIM:234810 semapv:UnspecifiedMatching -orphanet.ordo:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref UMLS:C0340548 semapv:UnspecifiedMatching -orphanet.ordo:199244 Nelson syndrome oboInOwl:hasDbXref ICD10:E24.1 semapv:UnspecifiedMatching -orphanet.ordo:199244 Nelson syndrome oboInOwl:hasDbXref MESH:D009347 semapv:UnspecifiedMatching -orphanet.ordo:199244 Nelson syndrome oboInOwl:hasDbXref MeSH:D009347 semapv:UnspecifiedMatching -orphanet.ordo:199244 Nelson syndrome oboInOwl:hasDbXref MedDRA:10028913 semapv:UnspecifiedMatching -orphanet.ordo:199244 Nelson syndrome oboInOwl:hasDbXref UMLS:C0027577 semapv:UnspecifiedMatching -orphanet.ordo:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10:E27.8 semapv:UnspecifiedMatching -orphanet.ordo:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OMIM:611489 semapv:UnspecifiedMatching -orphanet.ordo:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref UMLS:C1852529 semapv:UnspecifiedMatching -orphanet.ordo:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:UnspecifiedMatching -orphanet.ordo:199251 Ledderhose disease oboInOwl:hasDbXref MESH:C537000 semapv:UnspecifiedMatching -orphanet.ordo:199251 Ledderhose disease oboInOwl:hasDbXref MeSH:C537000 semapv:UnspecifiedMatching -orphanet.ordo:199251 Ledderhose disease oboInOwl:hasDbXref MedDRA:10035154 semapv:UnspecifiedMatching -orphanet.ordo:199251 Ledderhose disease oboInOwl:hasDbXref UMLS:C0158360 semapv:UnspecifiedMatching -orphanet.ordo:199257 Superficial fibromatosis oboInOwl:hasDbXref UMLS:C0406571 semapv:UnspecifiedMatching -orphanet.ordo:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching -orphanet.ordo:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref UMLS:C0553647 semapv:UnspecifiedMatching -orphanet.ordo:199267 Infantile digital fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching -orphanet.ordo:199267 Infantile digital fibromatosis oboInOwl:hasDbXref UMLS:C1318562 semapv:UnspecifiedMatching -orphanet.ordo:199276 Familial multiple lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching -orphanet.ordo:199276 Familial multiple lipomatosis oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching -orphanet.ordo:199276 Familial multiple lipomatosis oboInOwl:hasDbXref UMLS:C3489413 semapv:UnspecifiedMatching -orphanet.ordo:199279 Familial angiolipomatosis oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching -orphanet.ordo:199279 Familial angiolipomatosis oboInOwl:hasDbXref OMIM:206550 semapv:UnspecifiedMatching -orphanet.ordo:199279 Familial angiolipomatosis oboInOwl:hasDbXref UMLS:C1859784 semapv:UnspecifiedMatching -orphanet.ordo:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:199282 Harlequin syndrome oboInOwl:hasDbXref MESH:C535634 semapv:UnspecifiedMatching -orphanet.ordo:199282 Harlequin syndrome oboInOwl:hasDbXref MeSH:C535634 semapv:UnspecifiedMatching -orphanet.ordo:199282 Harlequin syndrome oboInOwl:hasDbXref UMLS:C2029348 semapv:UnspecifiedMatching -orphanet.ordo:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 semapv:UnspecifiedMatching -orphanet.ordo:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:115300 semapv:UnspecifiedMatching -orphanet.ordo:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:277350 semapv:UnspecifiedMatching -orphanet.ordo:199293 Congenital microgastria oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching -orphanet.ordo:199293 Congenital microgastria oboInOwl:hasDbXref UMLS:C0266150 semapv:UnspecifiedMatching -orphanet.ordo:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref OMIM:201400 semapv:UnspecifiedMatching -orphanet.ordo:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:1993 Pai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1993 Pai syndrome oboInOwl:hasDbXref OMIM:155145 semapv:UnspecifiedMatching -orphanet.ordo:1993 Pai syndrome oboInOwl:hasDbXref UMLS:C1835087 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref MedDRA:10009259 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching -orphanet.ordo:199302 Isolated cleft lip oboInOwl:hasDbXref UMLS:C0008924 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.0 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.1 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.2 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.3 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.4 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.5 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.8 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.9 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref MedDRA:10009260 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:600625 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:608864 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:613705 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:616788 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:618149 semapv:UnspecifiedMatching -orphanet.ordo:199306 Cleft lip/palate oboInOwl:hasDbXref UMLS:C0158646 semapv:UnspecifiedMatching -orphanet.ordo:199310 Tetragametic chimerism oboInOwl:hasDbXref ICD10:Q99.0 semapv:UnspecifiedMatching -orphanet.ordo:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching -orphanet.ordo:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref OMIM:613618 semapv:UnspecifiedMatching -orphanet.ordo:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612001 semapv:UnspecifiedMatching -orphanet.ordo:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2677613 semapv:UnspecifiedMatching -orphanet.ordo:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching -orphanet.ordo:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching -orphanet.ordo:199323 Endophthalmitis oboInOwl:hasDbXref MESH:D009877 semapv:UnspecifiedMatching -orphanet.ordo:199323 Endophthalmitis oboInOwl:hasDbXref MeSH:D009877 semapv:UnspecifiedMatching -orphanet.ordo:199323 Endophthalmitis oboInOwl:hasDbXref MedDRA:10014801 semapv:UnspecifiedMatching -orphanet.ordo:199323 Endophthalmitis oboInOwl:hasDbXref UMLS:C0014236 semapv:UnspecifiedMatching -orphanet.ordo:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref OMIM:612651 semapv:UnspecifiedMatching -orphanet.ordo:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref OMIM:612714 semapv:UnspecifiedMatching -orphanet.ordo:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref UMLS:C2675184 semapv:UnspecifiedMatching -orphanet.ordo:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref OMIM:612954 semapv:UnspecifiedMatching -orphanet.ordo:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref UMLS:C2751831 semapv:UnspecifiedMatching -orphanet.ordo:199343 EAST syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:199343 EAST syndrome oboInOwl:hasDbXref OMIM:612780 semapv:UnspecifiedMatching -orphanet.ordo:199343 EAST syndrome oboInOwl:hasDbXref UMLS:C2748572 semapv:UnspecifiedMatching -orphanet.ordo:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching -orphanet.ordo:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching -orphanet.ordo:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:612953 semapv:UnspecifiedMatching -orphanet.ordo:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751842 semapv:UnspecifiedMatching -orphanet.ordo:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching -orphanet.ordo:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C1838577 semapv:UnspecifiedMatching -orphanet.ordo:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref UMLS:C2931789 semapv:UnspecifiedMatching -orphanet.ordo:199627 Atypical autism oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching -orphanet.ordo:199627 Atypical autism oboInOwl:hasDbXref MedDRA:10003747 semapv:UnspecifiedMatching -orphanet.ordo:199627 Atypical autism oboInOwl:hasDbXref UMLS:C0338986 semapv:UnspecifiedMatching -orphanet.ordo:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:199633 Non-syndromic cerebral malformation oboInOwl:hasDbXref UMLS:C0266449 semapv:UnspecifiedMatching -orphanet.ordo:199642 Isolated congenital microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:199642 Isolated congenital microcephaly oboInOwl:hasDbXref MedDRA:10027534 semapv:UnspecifiedMatching -orphanet.ordo:199642 Isolated congenital microcephaly oboInOwl:hasDbXref UMLS:C0025958 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref MESH:D004677 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref MeSH:D004677 semapv:UnspecifiedMatching -orphanet.ordo:199647 Isolated encephalocele oboInOwl:hasDbXref MedDRA:10014617 semapv:UnspecifiedMatching -orphanet.ordo:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref OMIM:119580 semapv:UnspecifiedMatching -orphanet.ordo:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref OMIM:617681 semapv:UnspecifiedMatching -orphanet.ordo:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref UMLS:C1861536 semapv:UnspecifiedMatching -orphanet.ordo:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref OMIM:246450 semapv:UnspecifiedMatching -orphanet.ordo:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref UMLS:C0268601 semapv:UnspecifiedMatching -orphanet.ordo:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching -orphanet.ordo:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref OMIM:601165 semapv:UnspecifiedMatching -orphanet.ordo:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref UMLS:C2931750 semapv:UnspecifiedMatching -orphanet.ordo:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching -orphanet.ordo:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref OMIM:610984 semapv:UnspecifiedMatching -orphanet.ordo:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref UMLS:C3463916 semapv:UnspecifiedMatching -orphanet.ordo:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching -orphanet.ordo:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref UMLS:C0398777 semapv:UnspecifiedMatching -orphanet.ordo:2006 Median cleft lip/mandible oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching -orphanet.ordo:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref OMIM:203000 semapv:UnspecifiedMatching -orphanet.ordo:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref UMLS:C1859964 semapv:UnspecifiedMatching -orphanet.ordo:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref OMIM:600460 semapv:UnspecifiedMatching -orphanet.ordo:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref UMLS:C1838121 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref MeSH:D006223 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref MedDRA:10051906 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615107 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615108 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615109 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref OMIM:616858 semapv:UnspecifiedMatching -orphanet.ordo:201 Cowden syndrome oboInOwl:hasDbXref UMLS:C0018553 semapv:UnspecifiedMatching -orphanet.ordo:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref OMIM:216300 semapv:UnspecifiedMatching -orphanet.ordo:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref UMLS:C1859081 semapv:UnspecifiedMatching -orphanet.ordo:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref OMIM:181180 semapv:UnspecifiedMatching -orphanet.ordo:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref UMLS:C1867023 semapv:UnspecifiedMatching -orphanet.ordo:2014 Cleft palate oboInOwl:hasDbXref ICD10:Q35 semapv:UnspecifiedMatching -orphanet.ordo:2014 Cleft palate oboInOwl:hasDbXref MESH:D002972 semapv:UnspecifiedMatching -orphanet.ordo:2014 Cleft palate oboInOwl:hasDbXref MeSH:D002972 semapv:UnspecifiedMatching -orphanet.ordo:2014 Cleft palate oboInOwl:hasDbXref MedDRA:10009269 semapv:UnspecifiedMatching -orphanet.ordo:2014 Cleft palate oboInOwl:hasDbXref OMIM:119540 semapv:UnspecifiedMatching -orphanet.ordo:2014 Cleft palate oboInOwl:hasDbXref UMLS:C0008925 semapv:UnspecifiedMatching -orphanet.ordo:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref OMIM:119550 semapv:UnspecifiedMatching -orphanet.ordo:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS:C0795898 semapv:UnspecifiedMatching -orphanet.ordo:2017 Sternal cleft oboInOwl:hasDbXref ICD10:Q76.7 semapv:UnspecifiedMatching -orphanet.ordo:2017 Sternal cleft oboInOwl:hasDbXref MESH:C537489 semapv:UnspecifiedMatching -orphanet.ordo:2017 Sternal cleft oboInOwl:hasDbXref MeSH:C537489 semapv:UnspecifiedMatching -orphanet.ordo:2017 Sternal cleft oboInOwl:hasDbXref UMLS:C2931507 semapv:UnspecifiedMatching -orphanet.ordo:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MESH:C537918 semapv:UnspecifiedMatching -orphanet.ordo:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MeSH:C537918 semapv:UnspecifiedMatching -orphanet.ordo:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MedDRA:10068448 semapv:UnspecifiedMatching -orphanet.ordo:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref OMIM:228200 semapv:UnspecifiedMatching -orphanet.ordo:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref UMLS:C2363814 semapv:UnspecifiedMatching -orphanet.ordo:202 Crandall syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:202 Crandall syndrome oboInOwl:hasDbXref UMLS:C0432348 semapv:UnspecifiedMatching -orphanet.ordo:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:255310 semapv:UnspecifiedMatching -orphanet.ordo:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:300580 semapv:UnspecifiedMatching -orphanet.ordo:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:617760 semapv:UnspecifiedMatching -orphanet.ordo:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref UMLS:C0546264 semapv:UnspecifiedMatching -orphanet.ordo:2021 Fibrochondrogenesis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:2021 Fibrochondrogenesis oboInOwl:hasDbXref OMIM:228520 semapv:UnspecifiedMatching -orphanet.ordo:2021 Fibrochondrogenesis oboInOwl:hasDbXref OMIM:614524 semapv:UnspecifiedMatching -orphanet.ordo:2021 Fibrochondrogenesis oboInOwl:hasDbXref UMLS:C0265282 semapv:UnspecifiedMatching -orphanet.ordo:2022 Endocardial fibroelastosis oboInOwl:hasDbXref ICD10:I42.4 semapv:UnspecifiedMatching -orphanet.ordo:2022 Endocardial fibroelastosis oboInOwl:hasDbXref MedDRA:10014663 semapv:UnspecifiedMatching -orphanet.ordo:2022 Endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 semapv:UnspecifiedMatching -orphanet.ordo:2022 Endocardial fibroelastosis oboInOwl:hasDbXref UMLS:C0014117 semapv:UnspecifiedMatching -orphanet.ordo:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MESH:D051677 semapv:UnspecifiedMatching -orphanet.ordo:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MeSH:D051677 semapv:UnspecifiedMatching -orphanet.ordo:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MedDRA:10025552 semapv:UnspecifiedMatching -orphanet.ordo:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref UMLS:C0334463 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref ICD10:K06.1 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:135300 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:605544 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:611010 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:617626 semapv:UnspecifiedMatching -orphanet.ordo:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref UMLS:C0399440 semapv:UnspecifiedMatching -orphanet.ordo:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:228560 semapv:UnspecifiedMatching -orphanet.ordo:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1856761 semapv:UnspecifiedMatching -orphanet.ordo:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:L68.8 semapv:UnspecifiedMatching -orphanet.ordo:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:135400 semapv:UnspecifiedMatching -orphanet.ordo:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref OMIM:135550 semapv:UnspecifiedMatching -orphanet.ordo:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref UMLS:C1851112 semapv:UnspecifiedMatching -orphanet.ordo:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching -orphanet.ordo:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching -orphanet.ordo:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref MeSH:D057770 semapv:UnspecifiedMatching -orphanet.ordo:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching -orphanet.ordo:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref UMLS:C0406578 semapv:UnspecifiedMatching -orphanet.ordo:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching -orphanet.ordo:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:2030 Fibrosarcoma oboInOwl:hasDbXref MESH:D005354 semapv:UnspecifiedMatching -orphanet.ordo:2030 Fibrosarcoma oboInOwl:hasDbXref MeSH:D005354 semapv:UnspecifiedMatching -orphanet.ordo:2030 Fibrosarcoma oboInOwl:hasDbXref MedDRA:10016632 semapv:UnspecifiedMatching -orphanet.ordo:2030 Fibrosarcoma oboInOwl:hasDbXref OMIM:117600 semapv:UnspecifiedMatching -orphanet.ordo:2030 Fibrosarcoma oboInOwl:hasDbXref UMLS:C0016057 semapv:UnspecifiedMatching -orphanet.ordo:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213010 semapv:UnspecifiedMatching -orphanet.ordo:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931226 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MeSH:D054990 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MedDRA:10021240 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616371 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616373 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:619611 semapv:UnspecifiedMatching -orphanet.ordo:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching -orphanet.ordo:2034 Filariasis oboInOwl:hasDbXref ICD10:B74 semapv:UnspecifiedMatching -orphanet.ordo:2034 Filariasis oboInOwl:hasDbXref MESH:D005368 semapv:UnspecifiedMatching -orphanet.ordo:2034 Filariasis oboInOwl:hasDbXref MeSH:D005368 semapv:UnspecifiedMatching -orphanet.ordo:2034 Filariasis oboInOwl:hasDbXref MedDRA:10016674 semapv:UnspecifiedMatching -orphanet.ordo:2034 Filariasis oboInOwl:hasDbXref UMLS:C0016085 semapv:UnspecifiedMatching -orphanet.ordo:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.0 semapv:UnspecifiedMatching -orphanet.ordo:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.1 semapv:UnspecifiedMatching -orphanet.ordo:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.2 semapv:UnspecifiedMatching -orphanet.ordo:2035 Lymphatic filariasis oboInOwl:hasDbXref MedDRA:10016675 semapv:UnspecifiedMatching -orphanet.ordo:2035 Lymphatic filariasis oboInOwl:hasDbXref UMLS:C0013884 semapv:UnspecifiedMatching -orphanet.ordo:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref MESH:C536623 semapv:UnspecifiedMatching -orphanet.ordo:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref MeSH:C536623 semapv:UnspecifiedMatching -orphanet.ordo:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref OMIM:181270 semapv:UnspecifiedMatching -orphanet.ordo:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS:C1867020 semapv:UnspecifiedMatching -orphanet.ordo:2037 Congenital aortopulmonary window oboInOwl:hasDbXref ICD10:Q21.4 semapv:UnspecifiedMatching -orphanet.ordo:2037 Congenital aortopulmonary window oboInOwl:hasDbXref MESH:C537782 semapv:UnspecifiedMatching -orphanet.ordo:2037 Congenital aortopulmonary window oboInOwl:hasDbXref MeSH:C537782 semapv:UnspecifiedMatching -orphanet.ordo:2037 Congenital aortopulmonary window oboInOwl:hasDbXref UMLS:C2931610 semapv:UnspecifiedMatching -orphanet.ordo:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching -orphanet.ordo:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref MedDRA:10037332 semapv:UnspecifiedMatching -orphanet.ordo:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref OMIM:265140 semapv:UnspecifiedMatching -orphanet.ordo:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref UMLS:C0155675 semapv:UnspecifiedMatching -orphanet.ordo:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching -orphanet.ordo:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching -orphanet.ordo:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D007562 semapv:UnspecifiedMatching -orphanet.ordo:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MeSH:D007562 semapv:UnspecifiedMatching -orphanet.ordo:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MedDRA:10011384 semapv:UnspecifiedMatching -orphanet.ordo:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching -orphanet.ordo:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0022336 semapv:UnspecifiedMatching -orphanet.ordo:2040 Congenital respiratory-biliary fistula oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching -orphanet.ordo:2041 Coronary arterial fistula oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:2041 Coronary arterial fistula oboInOwl:hasDbXref MedDRA:10069441 semapv:UnspecifiedMatching -orphanet.ordo:2041 Coronary arterial fistula oboInOwl:hasDbXref UMLS:C0265898 semapv:UnspecifiedMatching -orphanet.ordo:2044 Floating-Harbor syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2044 Floating-Harbor syndrome oboInOwl:hasDbXref MESH:C537062 semapv:UnspecifiedMatching -orphanet.ordo:2044 Floating-Harbor syndrome oboInOwl:hasDbXref MeSH:C537062 semapv:UnspecifiedMatching -orphanet.ordo:2044 Floating-Harbor syndrome oboInOwl:hasDbXref OMIM:136140 semapv:UnspecifiedMatching -orphanet.ordo:2044 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS:C0729582 semapv:UnspecifiedMatching -orphanet.ordo:2045 FLOTCH syndrome oboInOwl:hasDbXref ICD10:L60.8 semapv:UnspecifiedMatching -orphanet.ordo:2045 FLOTCH syndrome oboInOwl:hasDbXref MESH:C537065 semapv:UnspecifiedMatching -orphanet.ordo:2045 FLOTCH syndrome oboInOwl:hasDbXref MeSH:C537065 semapv:UnspecifiedMatching -orphanet.ordo:2045 FLOTCH syndrome oboInOwl:hasDbXref UMLS:C2931411 semapv:UnspecifiedMatching -orphanet.ordo:2047 Flynn-Aird syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2047 Flynn-Aird syndrome oboInOwl:hasDbXref MESH:C537066 semapv:UnspecifiedMatching -orphanet.ordo:2047 Flynn-Aird syndrome oboInOwl:hasDbXref MeSH:C537066 semapv:UnspecifiedMatching -orphanet.ordo:2047 Flynn-Aird syndrome oboInOwl:hasDbXref OMIM:136300 semapv:UnspecifiedMatching -orphanet.ordo:2047 Flynn-Aird syndrome oboInOwl:hasDbXref UMLS:C0343108 semapv:UnspecifiedMatching -orphanet.ordo:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref MESH:C537069 semapv:UnspecifiedMatching -orphanet.ordo:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref MeSH:C537069 semapv:UnspecifiedMatching -orphanet.ordo:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref UMLS:C2931412 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MESH:D003414 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MeSH:D003414 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MedDRA:10011386 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:606785 semapv:UnspecifiedMatching -orphanet.ordo:205 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS:C0010324 semapv:UnspecifiedMatching -orphanet.ordo:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref MESH:C535963 semapv:UnspecifiedMatching -orphanet.ordo:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref MeSH:C535963 semapv:UnspecifiedMatching -orphanet.ordo:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:112240 semapv:UnspecifiedMatching -orphanet.ordo:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:616294 semapv:UnspecifiedMatching -orphanet.ordo:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref UMLS:C1862178 semapv:UnspecifiedMatching -orphanet.ordo:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2051 Fraser-like syndrome oboInOwl:hasDbXref OMIM:229230 semapv:UnspecifiedMatching -orphanet.ordo:2051 Fraser-like syndrome oboInOwl:hasDbXref UMLS:C1856708 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref MESH:D058497 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref MeSH:D058497 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref OMIM:219000 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref OMIM:617666 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref OMIM:617667 semapv:UnspecifiedMatching -orphanet.ordo:2052 Fraser syndrome oboInOwl:hasDbXref UMLS:C0265233 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref MESH:C535483 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref MeSH:C535483 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:277720 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching -orphanet.ordo:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref UMLS:C0265224 semapv:UnspecifiedMatching -orphanet.ordo:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching -orphanet.ordo:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1864825 semapv:UnspecifiedMatching -orphanet.ordo:2056 Essential fructosuria oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching -orphanet.ordo:2056 Essential fructosuria oboInOwl:hasDbXref MESH:C538068 semapv:UnspecifiedMatching -orphanet.ordo:2056 Essential fructosuria oboInOwl:hasDbXref MeSH:C538068 semapv:UnspecifiedMatching -orphanet.ordo:2056 Essential fructosuria oboInOwl:hasDbXref MedDRA:10015487 semapv:UnspecifiedMatching -orphanet.ordo:2056 Essential fructosuria oboInOwl:hasDbXref OMIM:229800 semapv:UnspecifiedMatching -orphanet.ordo:2056 Essential fructosuria oboInOwl:hasDbXref UMLS:C0268160 semapv:UnspecifiedMatching -orphanet.ordo:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref OMIM:210745 semapv:UnspecifiedMatching -orphanet.ordo:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref UMLS:C1859432 semapv:UnspecifiedMatching -orphanet.ordo:2059 Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2059 Fryns syndrome oboInOwl:hasDbXref MESH:C538070 semapv:UnspecifiedMatching -orphanet.ordo:2059 Fryns syndrome oboInOwl:hasDbXref MeSH:C538070 semapv:UnspecifiedMatching -orphanet.ordo:2059 Fryns syndrome oboInOwl:hasDbXref OMIM:229850 semapv:UnspecifiedMatching -orphanet.ordo:2059 Fryns syndrome oboInOwl:hasDbXref UMLS:C0220730 semapv:UnspecifiedMatching -orphanet.ordo:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.0 semapv:UnspecifiedMatching -orphanet.ordo:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.1 semapv:UnspecifiedMatching -orphanet.ordo:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching -orphanet.ordo:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref OMIM:183300 semapv:UnspecifiedMatching -orphanet.ordo:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref UMLS:C1866745 semapv:UnspecifiedMatching -orphanet.ordo:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref MESH:C536344 semapv:UnspecifiedMatching -orphanet.ordo:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref MeSH:C536344 semapv:UnspecifiedMatching -orphanet.ordo:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref OMIM:192800 semapv:UnspecifiedMatching -orphanet.ordo:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref UMLS:C1860464 semapv:UnspecifiedMatching -orphanet.ordo:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0023374 semapv:UnspecifiedMatching -orphanet.ordo:206436 Infantile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:206436 Infantile Krabbe disease oboInOwl:hasDbXref UMLS:C0751273 semapv:UnspecifiedMatching -orphanet.ordo:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref UMLS:C0268252 semapv:UnspecifiedMatching -orphanet.ordo:206448 Adult Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:206448 Adult Krabbe disease oboInOwl:hasDbXref UMLS:C0268252 semapv:UnspecifiedMatching -orphanet.ordo:206470 Cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:206484 Gonadoblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching -orphanet.ordo:206484 Gonadoblastoma oboInOwl:hasDbXref OMIM:424500 semapv:UnspecifiedMatching -orphanet.ordo:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching -orphanet.ordo:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref MESH:C537548 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref MeSH:C537548 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:251300 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:301006 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:617729 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:617730 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:617731 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618347 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618348 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618349 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:619603 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:619609 semapv:UnspecifiedMatching -orphanet.ordo:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS:C0795949 semapv:UnspecifiedMatching -orphanet.ordo:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref OMIM:611307 semapv:UnspecifiedMatching -orphanet.ordo:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref UMLS:C1969785 semapv:UnspecifiedMatching -orphanet.ordo:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref OMIM:611588 semapv:UnspecifiedMatching -orphanet.ordo:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref UMLS:C1969040 semapv:UnspecifiedMatching -orphanet.ordo:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref OMIM:613158 semapv:UnspecifiedMatching -orphanet.ordo:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref OMIM:613157 semapv:UnspecifiedMatching -orphanet.ordo:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching -orphanet.ordo:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref UMLS:C3267047 semapv:UnspecifiedMatching -orphanet.ordo:206572 Overlap myositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching -orphanet.ordo:206575 Rippling muscle disease with myasthenia gravis oboInOwl:hasDbXref ICD10:G70.8 semapv:UnspecifiedMatching -orphanet.ordo:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching -orphanet.ordo:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref UMLS:C1970211 semapv:UnspecifiedMatching -orphanet.ordo:206583 Adult polyglucosan body disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:206583 Adult polyglucosan body disease oboInOwl:hasDbXref OMIM:263570 semapv:UnspecifiedMatching -orphanet.ordo:206583 Adult polyglucosan body disease oboInOwl:hasDbXref UMLS:C1849722 semapv:UnspecifiedMatching -orphanet.ordo:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching -orphanet.ordo:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:G63.1 semapv:UnspecifiedMatching -orphanet.ordo:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref ICD10:R74.8 semapv:UnspecifiedMatching -orphanet.ordo:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref MESH:C535407 semapv:UnspecifiedMatching -orphanet.ordo:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref MeSH:C535407 semapv:UnspecifiedMatching -orphanet.ordo:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref OMIM:613163 semapv:UnspecifiedMatching -orphanet.ordo:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref UMLS:C0342708 semapv:UnspecifiedMatching -orphanet.ordo:206613 Infectious disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C1278821 semapv:UnspecifiedMatching -orphanet.ordo:206647 Myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:206647 Myotonic dystrophy oboInOwl:hasDbXref MESH:D009223 semapv:UnspecifiedMatching -orphanet.ordo:206647 Myotonic dystrophy oboInOwl:hasDbXref MeSH:D009223 semapv:UnspecifiedMatching -orphanet.ordo:206647 Myotonic dystrophy oboInOwl:hasDbXref MedDRA:10068871 semapv:UnspecifiedMatching -orphanet.ordo:206647 Myotonic dystrophy oboInOwl:hasDbXref UMLS:C0027126 semapv:UnspecifiedMatching -orphanet.ordo:2067 GAPO syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2067 GAPO syndrome oboInOwl:hasDbXref OMIM:230740 semapv:UnspecifiedMatching -orphanet.ordo:2067 GAPO syndrome oboInOwl:hasDbXref UMLS:C0406723 semapv:UnspecifiedMatching -orphanet.ordo:206701 Bulbospinal muscular atrophy oboInOwl:hasDbXref UMLS:C0393547 semapv:UnspecifiedMatching -orphanet.ordo:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref MESH:C535651 semapv:UnspecifiedMatching -orphanet.ordo:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref MeSH:C535651 semapv:UnspecifiedMatching -orphanet.ordo:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref OMIM:137270 semapv:UnspecifiedMatching -orphanet.ordo:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref UMLS:C1850899 semapv:UnspecifiedMatching -orphanet.ordo:206953 Muscular lipidosis oboInOwl:hasDbXref UMLS:C0410214 semapv:UnspecifiedMatching -orphanet.ordo:206966 Mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:206966 Mitochondrial myopathy oboInOwl:hasDbXref MESH:D017240 semapv:UnspecifiedMatching -orphanet.ordo:206966 Mitochondrial myopathy oboInOwl:hasDbXref MeSH:D017240 semapv:UnspecifiedMatching -orphanet.ordo:206966 Mitochondrial myopathy oboInOwl:hasDbXref MedDRA:10027710 semapv:UnspecifiedMatching -orphanet.ordo:206966 Mitochondrial myopathy oboInOwl:hasDbXref UMLS:C0162670 semapv:UnspecifiedMatching -orphanet.ordo:206970 Myotonic syndrome oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching -orphanet.ordo:206970 Myotonic syndrome oboInOwl:hasDbXref MeSH:D020967 semapv:UnspecifiedMatching -orphanet.ordo:206970 Myotonic syndrome oboInOwl:hasDbXref MedDRA:10028658 semapv:UnspecifiedMatching -orphanet.ordo:206970 Myotonic syndrome oboInOwl:hasDbXref UMLS:C0553604 semapv:UnspecifiedMatching -orphanet.ordo:206973 Congenital myotonia oboInOwl:hasDbXref UMLS:C0027127 semapv:UnspecifiedMatching -orphanet.ordo:206976 Periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:206976 Periodic paralysis oboInOwl:hasDbXref MESH:D010245 semapv:UnspecifiedMatching -orphanet.ordo:206976 Periodic paralysis oboInOwl:hasDbXref MeSH:D010245 semapv:UnspecifiedMatching -orphanet.ordo:206976 Periodic paralysis oboInOwl:hasDbXref MedDRA:10016208 semapv:UnspecifiedMatching -orphanet.ordo:206976 Periodic paralysis oboInOwl:hasDbXref UMLS:C0030443 semapv:UnspecifiedMatching -orphanet.ordo:206982 Muscular tumor oboInOwl:hasDbXref UMLS:C0282606 semapv:UnspecifiedMatching -orphanet.ordo:206991 Viral myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching -orphanet.ordo:206991 Viral myositis oboInOwl:hasDbXref MedDRA:10051512 semapv:UnspecifiedMatching -orphanet.ordo:206991 Viral myositis oboInOwl:hasDbXref UMLS:C0150005 semapv:UnspecifiedMatching -orphanet.ordo:206994 Bacterial myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching -orphanet.ordo:206997 Parasitic myositis oboInOwl:hasDbXref UMLS:C0263997 semapv:UnspecifiedMatching -orphanet.ordo:207 Crouzon syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching -orphanet.ordo:207 Crouzon syndrome oboInOwl:hasDbXref OMIM:123500 semapv:UnspecifiedMatching -orphanet.ordo:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MESH:C535952 semapv:UnspecifiedMatching -orphanet.ordo:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MeSH:C535952 semapv:UnspecifiedMatching -orphanet.ordo:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MedDRA:10017902 semapv:UnspecifiedMatching -orphanet.ordo:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS:C1262481 semapv:UnspecifiedMatching -orphanet.ordo:207000 Fungal myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching -orphanet.ordo:207000 Fungal myositis oboInOwl:hasDbXref UMLS:C0410251 semapv:UnspecifiedMatching -orphanet.ordo:207015 Rare hereditary disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C0392553 semapv:UnspecifiedMatching -orphanet.ordo:207028 Cerebellar ataxia with peripheral neuropathy oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching -orphanet.ordo:207052 Qualitative or quantitative defects of sarcoglycan oboInOwl:hasDbXref UMLS:C2936331 semapv:UnspecifiedMatching -orphanet.ordo:207073 Qualitative or quantitative defects of dysferlin oboInOwl:hasDbXref UMLS:C2931687 semapv:UnspecifiedMatching -orphanet.ordo:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching -orphanet.ordo:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref UMLS:C2931585 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref MESH:D009290 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref MeSH:D009290 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref MedDRA:10028713 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:161400 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:605841 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:609039 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612417 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612851 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614250 semapv:UnspecifiedMatching -orphanet.ordo:2073 Narcolepsy type 1 oboInOwl:hasDbXref UMLS:C0751362 semapv:UnspecifiedMatching -orphanet.ordo:2074 Gemignani syndrome oboInOwl:hasDbXref MESH:C537678 semapv:UnspecifiedMatching -orphanet.ordo:2074 Gemignani syndrome oboInOwl:hasDbXref MeSH:C537678 semapv:UnspecifiedMatching -orphanet.ordo:2074 Gemignani syndrome oboInOwl:hasDbXref UMLS:C2931587 semapv:UnspecifiedMatching -orphanet.ordo:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref MESH:C537683 semapv:UnspecifiedMatching -orphanet.ordo:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref MeSH:C537683 semapv:UnspecifiedMatching -orphanet.ordo:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref OMIM:231060 semapv:UnspecifiedMatching -orphanet.ordo:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref UMLS:C1856466 semapv:UnspecifiedMatching -orphanet.ordo:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching -orphanet.ordo:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching -orphanet.ordo:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching -orphanet.ordo:2077 German syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2077 German syndrome oboInOwl:hasDbXref OMIM:231080 semapv:UnspecifiedMatching -orphanet.ordo:2077 German syndrome oboInOwl:hasDbXref UMLS:C3887495 semapv:UnspecifiedMatching -orphanet.ordo:2078 Geroderma osteodysplastica oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2078 Geroderma osteodysplastica oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching -orphanet.ordo:2078 Geroderma osteodysplastica oboInOwl:hasDbXref MeSH:C537799 semapv:UnspecifiedMatching -orphanet.ordo:2078 Geroderma osteodysplastica oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching -orphanet.ordo:2078 Geroderma osteodysplastica oboInOwl:hasDbXref UMLS:C0432255 semapv:UnspecifiedMatching -orphanet.ordo:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref OMIM:247990 semapv:UnspecifiedMatching -orphanet.ordo:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref UMLS:C0796024 semapv:UnspecifiedMatching -orphanet.ordo:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching -orphanet.ordo:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref UMLS:C2931588 semapv:UnspecifiedMatching -orphanet.ordo:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref OMIM:612691 semapv:UnspecifiedMatching -orphanet.ordo:208444 Bilateral frontal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref OMIM:137763 semapv:UnspecifiedMatching -orphanet.ordo:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref UMLS:C1842025 semapv:UnspecifiedMatching -orphanet.ordo:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref OMIM:117360 semapv:UnspecifiedMatching -orphanet.ordo:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref UMLS:C1861732 semapv:UnspecifiedMatching -orphanet.ordo:208524 Herpetiform pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching -orphanet.ordo:2086 Optic pathway glioma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching -orphanet.ordo:2086 Optic pathway glioma oboInOwl:hasDbXref UMLS:C0796418 semapv:UnspecifiedMatching -orphanet.ordo:208650 Cryopyrin-associated periodic syndrome oboInOwl:hasDbXref MESH:D056587 semapv:UnspecifiedMatching -orphanet.ordo:208650 Cryopyrin-associated periodic syndrome oboInOwl:hasDbXref MeSH:D056587 semapv:UnspecifiedMatching -orphanet.ordo:208650 Cryopyrin-associated periodic syndrome oboInOwl:hasDbXref MedDRA:10068850 semapv:UnspecifiedMatching -orphanet.ordo:208650 Cryopyrin-associated periodic syndrome oboInOwl:hasDbXref UMLS:C2316212 semapv:UnspecifiedMatching -orphanet.ordo:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref MESH:C536825 semapv:UnspecifiedMatching -orphanet.ordo:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref MeSH:C536825 semapv:UnspecifiedMatching -orphanet.ordo:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref UMLS:C1841989 semapv:UnspecifiedMatching -orphanet.ordo:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref OMIM:227810 semapv:UnspecifiedMatching -orphanet.ordo:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref UMLS:C3495427 semapv:UnspecifiedMatching -orphanet.ordo:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref OMIM:240600 semapv:UnspecifiedMatching -orphanet.ordo:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C1855861 semapv:UnspecifiedMatching -orphanet.ordo:208989 Non-paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:208999 Paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:209 Cutis laxa oboInOwl:hasDbXref MESH:D003483 semapv:UnspecifiedMatching -orphanet.ordo:209 Cutis laxa oboInOwl:hasDbXref MeSH:D003483 semapv:UnspecifiedMatching -orphanet.ordo:209 Cutis laxa oboInOwl:hasDbXref MedDRA:10011692 semapv:UnspecifiedMatching -orphanet.ordo:209 Cutis laxa oboInOwl:hasDbXref UMLS:C0010495 semapv:UnspecifiedMatching -orphanet.ordo:2090 GMS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2090 GMS syndrome oboInOwl:hasDbXref OMIM:138770 semapv:UnspecifiedMatching -orphanet.ordo:2090 GMS syndrome oboInOwl:hasDbXref UMLS:C1841854 semapv:UnspecifiedMatching -orphanet.ordo:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref OMIM:138790 semapv:UnspecifiedMatching -orphanet.ordo:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref UMLS:C1841853 semapv:UnspecifiedMatching -orphanet.ordo:2092 Focal dermal hypoplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2092 Focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching -orphanet.ordo:2092 Focal dermal hypoplasia oboInOwl:hasDbXref MeSH:D005489 semapv:UnspecifiedMatching -orphanet.ordo:2092 Focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching -orphanet.ordo:2092 Focal dermal hypoplasia oboInOwl:hasDbXref UMLS:C0016395 semapv:UnspecifiedMatching -orphanet.ordo:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:182980 semapv:UnspecifiedMatching -orphanet.ordo:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1854058 semapv:UnspecifiedMatching -orphanet.ordo:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching -orphanet.ordo:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1834690 semapv:UnspecifiedMatching -orphanet.ordo:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching -orphanet.ordo:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref MESH:C537290 semapv:UnspecifiedMatching -orphanet.ordo:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref MeSH:C537290 semapv:UnspecifiedMatching -orphanet.ordo:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref OMIM:612289 semapv:UnspecifiedMatching -orphanet.ordo:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref UMLS:C0345382 semapv:UnspecifiedMatching -orphanet.ordo:2097 Grant syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2097 Grant syndrome oboInOwl:hasDbXref MESH:C537293 semapv:UnspecifiedMatching -orphanet.ordo:2097 Grant syndrome oboInOwl:hasDbXref MeSH:C537293 semapv:UnspecifiedMatching -orphanet.ordo:2097 Grant syndrome oboInOwl:hasDbXref OMIM:138930 semapv:UnspecifiedMatching -orphanet.ordo:2097 Grant syndrome oboInOwl:hasDbXref UMLS:C1841835 semapv:UnspecifiedMatching -orphanet.ordo:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:200700 semapv:UnspecifiedMatching -orphanet.ordo:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching -orphanet.ordo:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref UMLS:C0265260 semapv:UnspecifiedMatching -orphanet.ordo:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 semapv:UnspecifiedMatching -orphanet.ordo:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching -orphanet.ordo:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref UMLS:C1836081 semapv:UnspecifiedMatching -orphanet.ordo:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -orphanet.ordo:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching -orphanet.ordo:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref OMIM:610978 semapv:UnspecifiedMatching -orphanet.ordo:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref UMLS:C1970269 semapv:UnspecifiedMatching -orphanet.ordo:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref ICD10:F82.0 semapv:UnspecifiedMatching -orphanet.ordo:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching -orphanet.ordo:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 semapv:UnspecifiedMatching -orphanet.ordo:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1275278 semapv:UnspecifiedMatching -orphanet.ordo:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching -orphanet.ordo:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref OMIM:215600 semapv:UnspecifiedMatching -orphanet.ordo:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref OMIM:610356 semapv:UnspecifiedMatching -orphanet.ordo:209943 IRVAN syndrome oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:209943 IRVAN syndrome oboInOwl:hasDbXref UMLS:C3665812 semapv:UnspecifiedMatching -orphanet.ordo:209951 Autosomal spastic paraplegia type 18 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:209951 Autosomal spastic paraplegia type 18 oboInOwl:hasDbXref OMIM:611225 semapv:UnspecifiedMatching -orphanet.ordo:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref ICD10:H31.8 semapv:UnspecifiedMatching -orphanet.ordo:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching -orphanet.ordo:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref UMLS:C0339320 semapv:UnspecifiedMatching -orphanet.ordo:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref ICD10:K62.6 semapv:UnspecifiedMatching -orphanet.ordo:209967 Episodic ataxia type 6 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:209967 Episodic ataxia type 6 oboInOwl:hasDbXref OMIM:612656 semapv:UnspecifiedMatching -orphanet.ordo:209967 Episodic ataxia type 6 oboInOwl:hasDbXref UMLS:C2675211 semapv:UnspecifiedMatching -orphanet.ordo:209970 Episodic ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:209970 Episodic ataxia type 7 oboInOwl:hasDbXref OMIM:611907 semapv:UnspecifiedMatching -orphanet.ordo:209970 Episodic ataxia type 7 oboInOwl:hasDbXref UMLS:C2677843 semapv:UnspecifiedMatching -orphanet.ordo:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G81.9 semapv:UnspecifiedMatching -orphanet.ordo:209981 IRIDA syndrome oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching -orphanet.ordo:209981 IRIDA syndrome oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching -orphanet.ordo:209981 IRIDA syndrome oboInOwl:hasDbXref UMLS:C0085576 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching -orphanet.ordo:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 semapv:UnspecifiedMatching -orphanet.ordo:210 Cyclosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching -orphanet.ordo:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref MESH:C537621 semapv:UnspecifiedMatching -orphanet.ordo:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref MeSH:C537621 semapv:UnspecifiedMatching -orphanet.ordo:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref OMIM:233810 semapv:UnspecifiedMatching -orphanet.ordo:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref UMLS:C2931551 semapv:UnspecifiedMatching -orphanet.ordo:210110 Intermediate osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:210110 Intermediate osteopetrosis oboInOwl:hasDbXref OMIM:611497 semapv:UnspecifiedMatching -orphanet.ordo:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref OMIM:612852 semapv:UnspecifiedMatching -orphanet.ordo:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref UMLS:C2748507 semapv:UnspecifiedMatching -orphanet.ordo:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching -orphanet.ordo:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref OMIM:265380 semapv:UnspecifiedMatching -orphanet.ordo:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref UMLS:C2677362 semapv:UnspecifiedMatching -orphanet.ordo:210128 Urocanic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:210128 Urocanic aciduria oboInOwl:hasDbXref OMIM:276880 semapv:UnspecifiedMatching -orphanet.ordo:210128 Urocanic aciduria oboInOwl:hasDbXref UMLS:C0268514 semapv:UnspecifiedMatching -orphanet.ordo:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching -orphanet.ordo:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:612900 semapv:UnspecifiedMatching -orphanet.ordo:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:617008 semapv:UnspecifiedMatching -orphanet.ordo:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref OMIM:612938 semapv:UnspecifiedMatching -orphanet.ordo:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref UMLS:C2752001 semapv:UnspecifiedMatching -orphanet.ordo:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching -orphanet.ordo:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref OMIM:612540 semapv:UnspecifiedMatching -orphanet.ordo:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching -orphanet.ordo:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref UMLS:C0268467 semapv:UnspecifiedMatching -orphanet.ordo:210272 Mal de débarquement oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching -orphanet.ordo:210272 Mal de débarquement oboInOwl:hasDbXref MESH:C537840 semapv:UnspecifiedMatching -orphanet.ordo:210272 Mal de débarquement oboInOwl:hasDbXref MeSH:C537840 semapv:UnspecifiedMatching -orphanet.ordo:210272 Mal de débarquement oboInOwl:hasDbXref MedDRA:10064924 semapv:UnspecifiedMatching -orphanet.ordo:210272 Mal de débarquement oboInOwl:hasDbXref UMLS:C1608983 semapv:UnspecifiedMatching -orphanet.ordo:2103 Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MESH:D020275 semapv:UnspecifiedMatching -orphanet.ordo:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MeSH:D020275 semapv:UnspecifiedMatching -orphanet.ordo:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MedDRA:10018767 semapv:UnspecifiedMatching -orphanet.ordo:2103 Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C0018378 semapv:UnspecifiedMatching -orphanet.ordo:2104 Dysmorphism-pectus carinatum-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:605309 semapv:UnspecifiedMatching -orphanet.ordo:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching -orphanet.ordo:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref UMLS:C1854416 semapv:UnspecifiedMatching -orphanet.ordo:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref MESH:C538002 semapv:UnspecifiedMatching -orphanet.ordo:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref MeSH:C538002 semapv:UnspecifiedMatching -orphanet.ordo:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref OMIM:607488 semapv:UnspecifiedMatching -orphanet.ordo:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref UMLS:C1843786 semapv:UnspecifiedMatching -orphanet.ordo:210571 Dystonia 16 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:210571 Dystonia 16 oboInOwl:hasDbXref OMIM:612067 semapv:UnspecifiedMatching -orphanet.ordo:210571 Dystonia 16 oboInOwl:hasDbXref UMLS:C2677567 semapv:UnspecifiedMatching -orphanet.ordo:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching -orphanet.ordo:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:210584 Spindle cell hemangioma oboInOwl:hasDbXref UMLS:C1304508 semapv:UnspecifiedMatching -orphanet.ordo:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2107 Hall-Riggs syndrome oboInOwl:hasDbXref OMIM:234250 semapv:UnspecifiedMatching -orphanet.ordo:2107 Hall-Riggs syndrome oboInOwl:hasDbXref UMLS:C1856198 semapv:UnspecifiedMatching -orphanet.ordo:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching -orphanet.ordo:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS:C0018522 semapv:UnspecifiedMatching -orphanet.ordo:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref UMLS:C2931775 semapv:UnspecifiedMatching -orphanet.ordo:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching -orphanet.ordo:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching -orphanet.ordo:211 Familial cylindromatosis oboInOwl:hasDbXref MESH:C536611 semapv:UnspecifiedMatching -orphanet.ordo:211 Familial cylindromatosis oboInOwl:hasDbXref MeSH:C536611 semapv:UnspecifiedMatching -orphanet.ordo:211 Familial cylindromatosis oboInOwl:hasDbXref OMIM:132700 semapv:UnspecifiedMatching -orphanet.ordo:211 Familial cylindromatosis oboInOwl:hasDbXref UMLS:C1851526 semapv:UnspecifiedMatching -orphanet.ordo:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref OMIM:234280 semapv:UnspecifiedMatching -orphanet.ordo:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C1856197 semapv:UnspecifiedMatching -orphanet.ordo:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref MESH:C537206 semapv:UnspecifiedMatching -orphanet.ordo:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref MeSH:C537206 semapv:UnspecifiedMatching -orphanet.ordo:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref OMIM:613371 semapv:UnspecifiedMatching -orphanet.ordo:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref UMLS:C2936793 semapv:UnspecifiedMatching -orphanet.ordo:211067 Episodic ataxia type 5 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:211067 Episodic ataxia type 5 oboInOwl:hasDbXref OMIM:613855 semapv:UnspecifiedMatching -orphanet.ordo:211067 Episodic ataxia type 5 oboInOwl:hasDbXref UMLS:C1866039 semapv:UnspecifiedMatching -orphanet.ordo:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref UMLS:C2931468 semapv:UnspecifiedMatching -orphanet.ordo:211237 Rare vascular tumor oboInOwl:hasDbXref UMLS:C0282607 semapv:UnspecifiedMatching -orphanet.ordo:211247 Rare capillary malformation oboInOwl:hasDbXref UMLS:C0340803 semapv:UnspecifiedMatching -orphanet.ordo:211252 Rare venous malformation oboInOwl:hasDbXref MedDRA:10025532 semapv:UnspecifiedMatching -orphanet.ordo:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MESH:D001165 semapv:UnspecifiedMatching -orphanet.ordo:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MeSH:D001165 semapv:UnspecifiedMatching -orphanet.ordo:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MedDRA:10003193 semapv:UnspecifiedMatching -orphanet.ordo:211266 Rare arteriovenous malformation oboInOwl:hasDbXref UMLS:C0003857 semapv:UnspecifiedMatching -orphanet.ordo:2113 Congenital hypothalamic hamartoma syndrome oboInOwl:hasDbXref OMIM:241800 semapv:UnspecifiedMatching -orphanet.ordo:2113 Congenital hypothalamic hamartoma syndrome oboInOwl:hasDbXref UMLS:C0342418 semapv:UnspecifiedMatching -orphanet.ordo:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 semapv:UnspecifiedMatching -orphanet.ordo:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching -orphanet.ordo:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref UMLS:C1840572 semapv:UnspecifiedMatching -orphanet.ordo:2115 Harrod syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2115 Harrod syndrome oboInOwl:hasDbXref OMIM:601095 semapv:UnspecifiedMatching -orphanet.ordo:2116 Hartnup disease oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:2116 Hartnup disease oboInOwl:hasDbXref MESH:D006250 semapv:UnspecifiedMatching -orphanet.ordo:2116 Hartnup disease oboInOwl:hasDbXref MeSH:D006250 semapv:UnspecifiedMatching -orphanet.ordo:2116 Hartnup disease oboInOwl:hasDbXref MedDRA:10019165 semapv:UnspecifiedMatching -orphanet.ordo:2116 Hartnup disease oboInOwl:hasDbXref OMIM:234500 semapv:UnspecifiedMatching -orphanet.ordo:2116 Hartnup disease oboInOwl:hasDbXref UMLS:C0018609 semapv:UnspecifiedMatching -orphanet.ordo:2117 Hartsfield syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2117 Hartsfield syndrome oboInOwl:hasDbXref OMIM:615465 semapv:UnspecifiedMatching -orphanet.ordo:2117 Hartsfield syndrome oboInOwl:hasDbXref UMLS:C1845146 semapv:UnspecifiedMatching -orphanet.ordo:2118 Hawkinsinuria oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching -orphanet.ordo:2118 Hawkinsinuria oboInOwl:hasDbXref MESH:C535845 semapv:UnspecifiedMatching -orphanet.ordo:2118 Hawkinsinuria oboInOwl:hasDbXref MeSH:C535845 semapv:UnspecifiedMatching -orphanet.ordo:2118 Hawkinsinuria oboInOwl:hasDbXref OMIM:140350 semapv:UnspecifiedMatching -orphanet.ordo:2118 Hawkinsinuria oboInOwl:hasDbXref UMLS:C2931042 semapv:UnspecifiedMatching -orphanet.ordo:2119 HEC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2119 HEC syndrome oboInOwl:hasDbXref OMIM:600559 semapv:UnspecifiedMatching -orphanet.ordo:2119 HEC syndrome oboInOwl:hasDbXref UMLS:C1833607 semapv:UnspecifiedMatching -orphanet.ordo:212 Cystathioninuria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:212 Cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:UnspecifiedMatching -orphanet.ordo:212 Cystathioninuria oboInOwl:hasDbXref MeSH:C535408 semapv:UnspecifiedMatching -orphanet.ordo:212 Cystathioninuria oboInOwl:hasDbXref OMIM:219500 semapv:UnspecifiedMatching -orphanet.ordo:212 Cystathioninuria oboInOwl:hasDbXref UMLS:C0220993 semapv:UnspecifiedMatching -orphanet.ordo:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref MESH:C537007 semapv:UnspecifiedMatching -orphanet.ordo:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref MeSH:C537007 semapv:UnspecifiedMatching -orphanet.ordo:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1367420 semapv:UnspecifiedMatching -orphanet.ordo:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching -orphanet.ordo:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref UMLS:C0472694 semapv:UnspecifiedMatching -orphanet.ordo:2125 Sacral hemangiomas-multiple congenital abnormalities syndrome oboInOwl:hasDbXref UMLS:C2931443 semapv:UnspecifiedMatching -orphanet.ordo:2126 Solitary fibrous tumor oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching -orphanet.ordo:2126 Solitary fibrous tumor oboInOwl:hasDbXref MESH:D006393 semapv:UnspecifiedMatching -orphanet.ordo:2126 Solitary fibrous tumor oboInOwl:hasDbXref MeSH:D006393 semapv:UnspecifiedMatching -orphanet.ordo:2126 Solitary fibrous tumor oboInOwl:hasDbXref MedDRA:10018825 semapv:UnspecifiedMatching -orphanet.ordo:2126 Solitary fibrous tumor oboInOwl:hasDbXref OMIM:234820 semapv:UnspecifiedMatching -orphanet.ordo:2128 Isolated hemihyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:2128 Isolated hemihyperplasia oboInOwl:hasDbXref MedDRA:10019463 semapv:UnspecifiedMatching -orphanet.ordo:2128 Isolated hemihyperplasia oboInOwl:hasDbXref OMIM:235000 semapv:UnspecifiedMatching -orphanet.ordo:2128 Isolated hemihyperplasia oboInOwl:hasDbXref UMLS:C1856184 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref MESH:D003554 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref MeSH:D003554 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref MedDRA:10011777 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching -orphanet.ordo:213 Cystinosis oboInOwl:hasDbXref UMLS:C0010690 semapv:UnspecifiedMatching -orphanet.ordo:2130 Hemimelia oboInOwl:hasDbXref MedDRA:10019464 semapv:UnspecifiedMatching -orphanet.ordo:2130 Hemimelia oboInOwl:hasDbXref UMLS:C0018987 semapv:UnspecifiedMatching -orphanet.ordo:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching -orphanet.ordo:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MESH:C536589 semapv:UnspecifiedMatching -orphanet.ordo:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MeSH:C536589 semapv:UnspecifiedMatching -orphanet.ordo:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 semapv:UnspecifiedMatching -orphanet.ordo:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 semapv:UnspecifiedMatching -orphanet.ordo:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref UMLS:C0338488 semapv:UnspecifiedMatching -orphanet.ordo:2132 Hemoglobin C disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:2132 Hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 semapv:UnspecifiedMatching -orphanet.ordo:2132 Hemoglobin C disease oboInOwl:hasDbXref MeSH:D006445 semapv:UnspecifiedMatching -orphanet.ordo:2132 Hemoglobin C disease oboInOwl:hasDbXref MedDRA:10018883 semapv:UnspecifiedMatching -orphanet.ordo:2132 Hemoglobin C disease oboInOwl:hasDbXref UMLS:C0019021 semapv:UnspecifiedMatching -orphanet.ordo:2133 Hemoglobin E disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:2133 Hemoglobin E disease oboInOwl:hasDbXref MedDRA:10053215 semapv:UnspecifiedMatching -orphanet.ordo:2133 Hemoglobin E disease oboInOwl:hasDbXref UMLS:C0238159 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D59.3 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref MESH:C538266 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref MeSH:C538266 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612922 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612923 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612924 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612925 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612926 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching -orphanet.ordo:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C2931788 semapv:UnspecifiedMatching -orphanet.ordo:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref OMIM:248910 semapv:UnspecifiedMatching -orphanet.ordo:213500 Ovarian cancer oboInOwl:hasDbXref UMLS:C1140680 semapv:UnspecifiedMatching -orphanet.ordo:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref MedDRA:10051938 semapv:UnspecifiedMatching -orphanet.ordo:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C0948216 semapv:UnspecifiedMatching -orphanet.ordo:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref UMLS:C0392998 semapv:UnspecifiedMatching -orphanet.ordo:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching -orphanet.ordo:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref UMLS:C0858252 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching -orphanet.ordo:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref UMLS:C1334708 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching -orphanet.ordo:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching -orphanet.ordo:213564 Rare uterine cancer oboInOwl:hasDbXref UMLS:C0153567 semapv:UnspecifiedMatching -orphanet.ordo:213569 Rare cancer of corpus uteri oboInOwl:hasDbXref UMLS:C0153574 semapv:UnspecifiedMatching -orphanet.ordo:2136 Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:235510 semapv:UnspecifiedMatching -orphanet.ordo:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:616006 semapv:UnspecifiedMatching -orphanet.ordo:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:618154 semapv:UnspecifiedMatching -orphanet.ordo:2136 Hennekam syndrome oboInOwl:hasDbXref UMLS:C0340834 semapv:UnspecifiedMatching -orphanet.ordo:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching -orphanet.ordo:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching -orphanet.ordo:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching -orphanet.ordo:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching -orphanet.ordo:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref MedDRA:10039497 semapv:UnspecifiedMatching -orphanet.ordo:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0338113 semapv:UnspecifiedMatching -orphanet.ordo:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0280631 semapv:UnspecifiedMatching -orphanet.ordo:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching -orphanet.ordo:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching -orphanet.ordo:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching -orphanet.ordo:2137 Autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching -orphanet.ordo:2137 Autoimmune hepatitis oboInOwl:hasDbXref MedDRA:10003827 semapv:UnspecifiedMatching -orphanet.ordo:2137 Autoimmune hepatitis oboInOwl:hasDbXref UMLS:C0241910 semapv:UnspecifiedMatching -orphanet.ordo:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 semapv:UnspecifiedMatching -orphanet.ordo:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MeSH:D018203 semapv:UnspecifiedMatching -orphanet.ordo:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MedDRA:10057649 semapv:UnspecifiedMatching -orphanet.ordo:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C0206630 semapv:UnspecifiedMatching -orphanet.ordo:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C50 semapv:UnspecifiedMatching -orphanet.ordo:213726 Serous carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching -orphanet.ordo:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching -orphanet.ordo:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching -orphanet.ordo:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching -orphanet.ordo:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching -orphanet.ordo:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching -orphanet.ordo:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching -orphanet.ordo:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching -orphanet.ordo:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching -orphanet.ordo:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching -orphanet.ordo:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching -orphanet.ordo:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching -orphanet.ordo:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279671 semapv:UnspecifiedMatching -orphanet.ordo:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279672 semapv:UnspecifiedMatching -orphanet.ordo:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53 semapv:UnspecifiedMatching -orphanet.ordo:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching -orphanet.ordo:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref MESH:D050090 semapv:UnspecifiedMatching -orphanet.ordo:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref MeSH:D050090 semapv:UnspecifiedMatching -orphanet.ordo:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching -orphanet.ordo:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching -orphanet.ordo:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching -orphanet.ordo:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching -orphanet.ordo:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref MESH:C538112 semapv:UnspecifiedMatching -orphanet.ordo:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref MeSH:C538112 semapv:UnspecifiedMatching -orphanet.ordo:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref UMLS:C2931736 semapv:UnspecifiedMatching -orphanet.ordo:214 Cystinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:214 Cystinuria oboInOwl:hasDbXref MESH:D003555 semapv:UnspecifiedMatching -orphanet.ordo:214 Cystinuria oboInOwl:hasDbXref MeSH:D003555 semapv:UnspecifiedMatching -orphanet.ordo:214 Cystinuria oboInOwl:hasDbXref MedDRA:10011778 semapv:UnspecifiedMatching -orphanet.ordo:214 Cystinuria oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching -orphanet.ordo:214 Cystinuria oboInOwl:hasDbXref UMLS:C0010691 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10:Q79.0 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MESH:C538080 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MeSH:C538080 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MedDRA:10010439 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:306950 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching -orphanet.ordo:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS:C0235833 semapv:UnspecifiedMatching -orphanet.ordo:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref OMIM:601163 semapv:UnspecifiedMatching -orphanet.ordo:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref UMLS:C1832668 semapv:UnspecifiedMatching -orphanet.ordo:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref MESH:C536390 semapv:UnspecifiedMatching -orphanet.ordo:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref MeSH:C536390 semapv:UnspecifiedMatching -orphanet.ordo:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref OMIM:222448 semapv:UnspecifiedMatching -orphanet.ordo:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref UMLS:C1857277 semapv:UnspecifiedMatching -orphanet.ordo:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref OMIM:300067 semapv:UnspecifiedMatching -orphanet.ordo:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref UMLS:C1848199 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:608097 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:608098 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:612881 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching -orphanet.ordo:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:617201 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref MESH:C536122 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref MeSH:C536122 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:163500 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:257270 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:300071 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:310500 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610427 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610444 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610445 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:613216 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:613830 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:614565 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:615058 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:616389 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:617024 semapv:UnspecifiedMatching -orphanet.ordo:215 Congenital stationary night blindness oboInOwl:hasDbXref UMLS:C0339535 semapv:UnspecifiedMatching -orphanet.ordo:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref MESH:C538319 semapv:UnspecifiedMatching -orphanet.ordo:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref MeSH:C538319 semapv:UnspecifiedMatching -orphanet.ordo:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref OMIM:306980 semapv:UnspecifiedMatching -orphanet.ordo:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1844017 semapv:UnspecifiedMatching -orphanet.ordo:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref MESH:C538119 semapv:UnspecifiedMatching -orphanet.ordo:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref MeSH:C538119 semapv:UnspecifiedMatching -orphanet.ordo:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref UMLS:C2751683 semapv:UnspecifiedMatching -orphanet.ordo:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching -orphanet.ordo:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref MeSH:C536990 semapv:UnspecifiedMatching -orphanet.ordo:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching -orphanet.ordo:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS:C1856113 semapv:UnspecifiedMatching -orphanet.ordo:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:235760 semapv:UnspecifiedMatching -orphanet.ordo:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1856110 semapv:UnspecifiedMatching -orphanet.ordo:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref OMIM:235740 semapv:UnspecifiedMatching -orphanet.ordo:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref UMLS:C2931452 semapv:UnspecifiedMatching -orphanet.ordo:2157 Histidinemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:2157 Histidinemia oboInOwl:hasDbXref MESH:C538320 semapv:UnspecifiedMatching -orphanet.ordo:2157 Histidinemia oboInOwl:hasDbXref MeSH:C538320 semapv:UnspecifiedMatching -orphanet.ordo:2157 Histidinemia oboInOwl:hasDbXref OMIM:235800 semapv:UnspecifiedMatching -orphanet.ordo:2157 Histidinemia oboInOwl:hasDbXref UMLS:C0220992 semapv:UnspecifiedMatching -orphanet.ordo:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref MESH:C538321 semapv:UnspecifiedMatching -orphanet.ordo:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref MeSH:C538321 semapv:UnspecifiedMatching -orphanet.ordo:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref OMIM:235830 semapv:UnspecifiedMatching -orphanet.ordo:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref UMLS:C0268642 semapv:UnspecifiedMatching -orphanet.ordo:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:D009472 semapv:UnspecifiedMatching -orphanet.ordo:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MeSH:D009472 semapv:UnspecifiedMatching -orphanet.ordo:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref MeSH:D016142 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref MedDRA:10056304 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:142945 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:142946 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:236100 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:605934 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:609408 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:610828 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:612530 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:614226 semapv:UnspecifiedMatching -orphanet.ordo:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:619895 semapv:UnspecifiedMatching -orphanet.ordo:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref OMIM:601370 semapv:UnspecifiedMatching -orphanet.ordo:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1832424 semapv:UnspecifiedMatching -orphanet.ordo:216445 Prelingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -orphanet.ordo:216452 Postlingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -orphanet.ordo:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:264480 semapv:UnspecifiedMatching -orphanet.ordo:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C1849649 semapv:UnspecifiedMatching -orphanet.ordo:216675 Transposition of the great arteries oboInOwl:hasDbXref UMLS:C0040761 semapv:UnspecifiedMatching -orphanet.ordo:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.5 semapv:UnspecifiedMatching -orphanet.ordo:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MESH:C535426 semapv:UnspecifiedMatching -orphanet.ordo:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MeSH:C535426 semapv:UnspecifiedMatching -orphanet.ordo:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MedDRA:10011120 semapv:UnspecifiedMatching -orphanet.ordo:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref UMLS:C0344616 semapv:UnspecifiedMatching -orphanet.ordo:2167 Holzgreve syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2167 Holzgreve syndrome oboInOwl:hasDbXref MESH:C535327 semapv:UnspecifiedMatching -orphanet.ordo:2167 Holzgreve syndrome oboInOwl:hasDbXref MeSH:C535327 semapv:UnspecifiedMatching -orphanet.ordo:2167 Holzgreve syndrome oboInOwl:hasDbXref OMIM:236110 semapv:UnspecifiedMatching -orphanet.ordo:2167 Holzgreve syndrome oboInOwl:hasDbXref UMLS:C1856095 semapv:UnspecifiedMatching -orphanet.ordo:216718 Isolated congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching -orphanet.ordo:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching -orphanet.ordo:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching -orphanet.ordo:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching -orphanet.ordo:2168 Homocarnosinosis oboInOwl:hasDbXref MESH:C535328 semapv:UnspecifiedMatching -orphanet.ordo:2168 Homocarnosinosis oboInOwl:hasDbXref MeSH:C535328 semapv:UnspecifiedMatching -orphanet.ordo:2168 Homocarnosinosis oboInOwl:hasDbXref OMIM:236130 semapv:UnspecifiedMatching -orphanet.ordo:2168 Homocarnosinosis oboInOwl:hasDbXref UMLS:C3495554 semapv:UnspecifiedMatching -orphanet.ordo:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching -orphanet.ordo:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching -orphanet.ordo:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching -orphanet.ordo:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching -orphanet.ordo:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref UMLS:C0268358 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C536044 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref MeSH:C536044 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:613848 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:614856 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:616229 semapv:UnspecifiedMatching -orphanet.ordo:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0268362 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref MESH:C536045 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref MeSH:C536045 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:615066 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:616507 semapv:UnspecifiedMatching -orphanet.ordo:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref UMLS:C0268363 semapv:UnspecifiedMatching -orphanet.ordo:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref MESH:C536046 semapv:UnspecifiedMatching -orphanet.ordo:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref MeSH:C536046 semapv:UnspecifiedMatching -orphanet.ordo:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching -orphanet.ordo:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref UMLS:C2931093 semapv:UnspecifiedMatching -orphanet.ordo:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching -orphanet.ordo:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching -orphanet.ordo:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching -orphanet.ordo:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref UMLS:C1856057 semapv:UnspecifiedMatching -orphanet.ordo:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref UMLS:C0432322 semapv:UnspecifiedMatching -orphanet.ordo:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref OMIM:220200 semapv:UnspecifiedMatching -orphanet.ordo:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref UMLS:C0010964 semapv:UnspecifiedMatching -orphanet.ordo:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching -orphanet.ordo:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref UMLS:C1855128 semapv:UnspecifiedMatching -orphanet.ordo:217008 Bockenheimer syndrome oboInOwl:hasDbXref ICD10:Q27.4 semapv:UnspecifiedMatching -orphanet.ordo:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref OMIM:117210 semapv:UnspecifiedMatching -orphanet.ordo:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref UMLS:C1861736 semapv:UnspecifiedMatching -orphanet.ordo:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref OMIM:612916 semapv:UnspecifiedMatching -orphanet.ordo:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref UMLS:C2752047 semapv:UnspecifiedMatching -orphanet.ordo:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref OMIM:612946 semapv:UnspecifiedMatching -orphanet.ordo:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref UMLS:C2751878 semapv:UnspecifiedMatching -orphanet.ordo:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching -orphanet.ordo:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C1842197 semapv:UnspecifiedMatching -orphanet.ordo:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -orphanet.ordo:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref OMIM:119900 semapv:UnspecifiedMatching -orphanet.ordo:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref UMLS:C0345408 semapv:UnspecifiedMatching -orphanet.ordo:217064 5-fluorouracil poisoning oboInOwl:hasDbXref ICD10:T45.1 semapv:UnspecifiedMatching -orphanet.ordo:217067 Pouchitis oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching -orphanet.ordo:217067 Pouchitis oboInOwl:hasDbXref MESH:D019449 semapv:UnspecifiedMatching -orphanet.ordo:217067 Pouchitis oboInOwl:hasDbXref MeSH:D019449 semapv:UnspecifiedMatching -orphanet.ordo:217067 Pouchitis oboInOwl:hasDbXref MedDRA:10036463 semapv:UnspecifiedMatching -orphanet.ordo:217067 Pouchitis oboInOwl:hasDbXref UMLS:C0376620 semapv:UnspecifiedMatching -orphanet.ordo:217071 Renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching -orphanet.ordo:217071 Renal cell carcinoma oboInOwl:hasDbXref MeSH:D002292 semapv:UnspecifiedMatching -orphanet.ordo:217071 Renal cell carcinoma oboInOwl:hasDbXref MedDRA:10067946 semapv:UnspecifiedMatching -orphanet.ordo:217071 Renal cell carcinoma oboInOwl:hasDbXref UMLS:C0007134 semapv:UnspecifiedMatching -orphanet.ordo:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref MESH:D010190 semapv:UnspecifiedMatching -orphanet.ordo:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref MeSH:D010190 semapv:UnspecifiedMatching -orphanet.ordo:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref MedDRA:10033604 semapv:UnspecifiedMatching -orphanet.ordo:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref MedDRA:10033609 semapv:UnspecifiedMatching -orphanet.ordo:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching -orphanet.ordo:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching -orphanet.ordo:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching -orphanet.ordo:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching -orphanet.ordo:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching -orphanet.ordo:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref OMIM:248760 semapv:UnspecifiedMatching -orphanet.ordo:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref UMLS:C1855348 semapv:UnspecifiedMatching -orphanet.ordo:217253 NMDA receptor encephalitis oboInOwl:hasDbXref ICD10:G13.1 semapv:UnspecifiedMatching -orphanet.ordo:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10:A81.2 semapv:UnspecifiedMatching -orphanet.ordo:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching -orphanet.ordo:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MeSH:D007968 semapv:UnspecifiedMatching -orphanet.ordo:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MedDRA:10036807 semapv:UnspecifiedMatching -orphanet.ordo:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS:C0023524 semapv:UnspecifiedMatching -orphanet.ordo:217266 BNAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:217266 BNAR syndrome oboInOwl:hasDbXref OMIM:608980 semapv:UnspecifiedMatching -orphanet.ordo:217266 BNAR syndrome oboInOwl:hasDbXref UMLS:C2750433 semapv:UnspecifiedMatching -orphanet.ordo:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching -orphanet.ordo:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1854061 semapv:UnspecifiedMatching -orphanet.ordo:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:613092 semapv:UnspecifiedMatching -orphanet.ordo:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C2751310 semapv:UnspecifiedMatching -orphanet.ordo:217335 RIN2 syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:217335 RIN2 syndrome oboInOwl:hasDbXref OMIM:613075 semapv:UnspecifiedMatching -orphanet.ordo:217335 RIN2 syndrome oboInOwl:hasDbXref UMLS:C2751321 semapv:UnspecifiedMatching -orphanet.ordo:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref OMIM:613533 semapv:UnspecifiedMatching -orphanet.ordo:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref OMIM:613026 semapv:UnspecifiedMatching -orphanet.ordo:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2751651 semapv:UnspecifiedMatching -orphanet.ordo:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref OMIM:613070 semapv:UnspecifiedMatching -orphanet.ordo:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref OMIM:300801 semapv:UnspecifiedMatching -orphanet.ordo:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref UMLS:C2749022 semapv:UnspecifiedMatching -orphanet.ordo:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref OMIM:613068 semapv:UnspecifiedMatching -orphanet.ordo:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref UMLS:C2751584 semapv:UnspecifiedMatching -orphanet.ordo:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref OMIM:613215 semapv:UnspecifiedMatching -orphanet.ordo:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C2750748 semapv:UnspecifiedMatching -orphanet.ordo:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref OMIM:243700 semapv:UnspecifiedMatching -orphanet.ordo:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref OMIM:613710 semapv:UnspecifiedMatching -orphanet.ordo:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching -orphanet.ordo:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref OMIM:613102 semapv:UnspecifiedMatching -orphanet.ordo:217454 Rare hereditary thrombophilia oboInOwl:hasDbXref UMLS:C2584620 semapv:UnspecifiedMatching -orphanet.ordo:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching -orphanet.ordo:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref OMIM:613116 semapv:UnspecifiedMatching -orphanet.ordo:217557 Pulmonary interstitial glycogenosis oboInOwl:hasDbXref ICD10:P22.8 semapv:UnspecifiedMatching -orphanet.ordo:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref UMLS:C3161105 semapv:UnspecifiedMatching -orphanet.ordo:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref ICD10:P28.0 semapv:UnspecifiedMatching -orphanet.ordo:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref OMIM:265120 semapv:UnspecifiedMatching -orphanet.ordo:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching -orphanet.ordo:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D002312 semapv:UnspecifiedMatching -orphanet.ordo:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MeSH:D002312 semapv:UnspecifiedMatching -orphanet.ordo:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MedDRA:10020871 semapv:UnspecifiedMatching -orphanet.ordo:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C0007194 semapv:UnspecifiedMatching -orphanet.ordo:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching -orphanet.ordo:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching -orphanet.ordo:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:236490 semapv:UnspecifiedMatching -orphanet.ordo:217604 Dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MESH:D002311 semapv:UnspecifiedMatching -orphanet.ordo:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MeSH:D002311 semapv:UnspecifiedMatching -orphanet.ordo:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MedDRA:10056370 semapv:UnspecifiedMatching -orphanet.ordo:217604 Dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0007193 semapv:UnspecifiedMatching -orphanet.ordo:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref MESH:C536231 semapv:UnspecifiedMatching -orphanet.ordo:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref MeSH:C536231 semapv:UnspecifiedMatching -orphanet.ordo:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0340427 semapv:UnspecifiedMatching -orphanet.ordo:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605362 semapv:UnspecifiedMatching -orphanet.ordo:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching -orphanet.ordo:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MeSH:D002313 semapv:UnspecifiedMatching -orphanet.ordo:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MedDRA:10038748 semapv:UnspecifiedMatching -orphanet.ordo:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0007196 semapv:UnspecifiedMatching -orphanet.ordo:217635 Familial restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0340429 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:600996 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:602086 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:602087 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:604400 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:604401 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:607450 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:609040 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:610476 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:611528 semapv:UnspecifiedMatching -orphanet.ordo:217656 Familial isolated arrhythmogenic right ventricular dysplasia oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching -orphanet.ordo:2177 Hydranencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2177 Hydranencephaly oboInOwl:hasDbXref MESH:D006832 semapv:UnspecifiedMatching -orphanet.ordo:2177 Hydranencephaly oboInOwl:hasDbXref MeSH:D006832 semapv:UnspecifiedMatching -orphanet.ordo:2177 Hydranencephaly oboInOwl:hasDbXref UMLS:C0020225 semapv:UnspecifiedMatching -orphanet.ordo:218 Darier disease oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:218 Darier disease oboInOwl:hasDbXref MESH:D007644 semapv:UnspecifiedMatching -orphanet.ordo:218 Darier disease oboInOwl:hasDbXref MeSH:D007644 semapv:UnspecifiedMatching -orphanet.ordo:218 Darier disease oboInOwl:hasDbXref MedDRA:10023369 semapv:UnspecifiedMatching -orphanet.ordo:218 Darier disease oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching -orphanet.ordo:218 Darier disease oboInOwl:hasDbXref UMLS:C0022595 semapv:UnspecifiedMatching -orphanet.ordo:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref OMIM:600991 semapv:UnspecifiedMatching -orphanet.ordo:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref UMLS:C2931197 semapv:UnspecifiedMatching -orphanet.ordo:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref OMIM:236660 semapv:UnspecifiedMatching -orphanet.ordo:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref UMLS:C1856051 semapv:UnspecifiedMatching -orphanet.ordo:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching -orphanet.ordo:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching -orphanet.ordo:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref UMLS:C0265216 semapv:UnspecifiedMatching -orphanet.ordo:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref UMLS:C2931734 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.9 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref MedDRA:10010506 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching -orphanet.ordo:2185 Congenital hydrocephalus oboInOwl:hasDbXref UMLS:C0020256 semapv:UnspecifiedMatching -orphanet.ordo:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref UMLS:C2931014 semapv:UnspecifiedMatching -orphanet.ordo:2189 Hydrolethalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2189 Hydrolethalus oboInOwl:hasDbXref MESH:C536079 semapv:UnspecifiedMatching -orphanet.ordo:2189 Hydrolethalus oboInOwl:hasDbXref MeSH:C536079 semapv:UnspecifiedMatching -orphanet.ordo:2189 Hydrolethalus oboInOwl:hasDbXref OMIM:236680 semapv:UnspecifiedMatching -orphanet.ordo:2189 Hydrolethalus oboInOwl:hasDbXref OMIM:614120 semapv:UnspecifiedMatching -orphanet.ordo:2189 Hydrolethalus oboInOwl:hasDbXref UMLS:C2931104 semapv:UnspecifiedMatching -orphanet.ordo:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref OMIM:601287 semapv:UnspecifiedMatching -orphanet.ordo:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref UMLS:C1832525 semapv:UnspecifiedMatching -orphanet.ordo:2194 Anti-HLA hyperimmunization oboInOwl:hasDbXref ICD10:T88.8 semapv:UnspecifiedMatching -orphanet.ordo:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 semapv:UnspecifiedMatching -orphanet.ordo:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref MeSH:C536171 semapv:UnspecifiedMatching -orphanet.ordo:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 semapv:UnspecifiedMatching -orphanet.ordo:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS:C1857253 semapv:UnspecifiedMatching -orphanet.ordo:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref OMIM:248190 semapv:UnspecifiedMatching -orphanet.ordo:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref UMLS:C1855466 semapv:UnspecifiedMatching -orphanet.ordo:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:143870 semapv:UnspecifiedMatching -orphanet.ordo:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:607258 semapv:UnspecifiedMatching -orphanet.ordo:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref UMLS:C0543800 semapv:UnspecifiedMatching -orphanet.ordo:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 semapv:UnspecifiedMatching -orphanet.ordo:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS:C1835664 semapv:UnspecifiedMatching -orphanet.ordo:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching -orphanet.ordo:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1721006 semapv:UnspecifiedMatching -orphanet.ordo:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:271980 semapv:UnspecifiedMatching -orphanet.ordo:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268631 semapv:UnspecifiedMatching -orphanet.ordo:220 Denys-Drash syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching -orphanet.ordo:220 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 semapv:UnspecifiedMatching -orphanet.ordo:220 Denys-Drash syndrome oboInOwl:hasDbXref MeSH:D030321 semapv:UnspecifiedMatching -orphanet.ordo:220 Denys-Drash syndrome oboInOwl:hasDbXref MedDRA:10070179 semapv:UnspecifiedMatching -orphanet.ordo:220 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 semapv:UnspecifiedMatching -orphanet.ordo:220 Denys-Drash syndrome oboInOwl:hasDbXref UMLS:C0950121 semapv:UnspecifiedMatching -orphanet.ordo:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref OMIM:148730 semapv:UnspecifiedMatching -orphanet.ordo:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref UMLS:C1835650 semapv:UnspecifiedMatching -orphanet.ordo:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref MESH:C536153 semapv:UnspecifiedMatching -orphanet.ordo:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref MeSH:C536153 semapv:UnspecifiedMatching -orphanet.ordo:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref OMIM:148360 semapv:UnspecifiedMatching -orphanet.ordo:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref UMLS:C1835671 semapv:UnspecifiedMatching -orphanet.ordo:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH:C536152 semapv:UnspecifiedMatching -orphanet.ordo:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MeSH:C536152 semapv:UnspecifiedMatching -orphanet.ordo:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching -orphanet.ordo:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 semapv:UnspecifiedMatching -orphanet.ordo:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching -orphanet.ordo:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching -orphanet.ordo:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching -orphanet.ordo:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:610651 semapv:UnspecifiedMatching -orphanet.ordo:2203 Hyperlysinemia oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:2203 Hyperlysinemia oboInOwl:hasDbXref MESH:D020167 semapv:UnspecifiedMatching -orphanet.ordo:2203 Hyperlysinemia oboInOwl:hasDbXref MeSH:D020167 semapv:UnspecifiedMatching -orphanet.ordo:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238700 semapv:UnspecifiedMatching -orphanet.ordo:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238710 semapv:UnspecifiedMatching -orphanet.ordo:2203 Hyperlysinemia oboInOwl:hasDbXref UMLS:C0268553 semapv:UnspecifiedMatching -orphanet.ordo:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:301043 semapv:UnspecifiedMatching -orphanet.ordo:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0751617 semapv:UnspecifiedMatching -orphanet.ordo:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching -orphanet.ordo:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching -orphanet.ordo:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching -orphanet.ordo:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching -orphanet.ordo:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref UMLS:C0748540 semapv:UnspecifiedMatching -orphanet.ordo:220407 Limited systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching -orphanet.ordo:220407 Limited systemic sclerosis oboInOwl:hasDbXref UMLS:C1290138 semapv:UnspecifiedMatching -orphanet.ordo:220436 Quebec platelet disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:220436 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 semapv:UnspecifiedMatching -orphanet.ordo:220436 Quebec platelet disorder oboInOwl:hasDbXref MeSH:C536260 semapv:UnspecifiedMatching -orphanet.ordo:220436 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching -orphanet.ordo:220436 Quebec platelet disorder oboInOwl:hasDbXref UMLS:C1866423 semapv:UnspecifiedMatching -orphanet.ordo:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref OMIM:614009 semapv:UnspecifiedMatching -orphanet.ordo:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref MESH:C538265 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref MeSH:C538265 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:612591 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:615083 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching -orphanet.ordo:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C2674616 semapv:UnspecifiedMatching -orphanet.ordo:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:245590 semapv:UnspecifiedMatching -orphanet.ordo:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:618985 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:608629 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:614464 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:614970 semapv:UnspecifiedMatching -orphanet.ordo:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:617121 semapv:UnspecifiedMatching -orphanet.ordo:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching -orphanet.ordo:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching -orphanet.ordo:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching -orphanet.ordo:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref ICD10:M48.1 semapv:UnspecifiedMatching -orphanet.ordo:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching -orphanet.ordo:2209 Maternal phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:2209 Maternal phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching -orphanet.ordo:2209 Maternal phenylketonuria oboInOwl:hasDbXref UMLS:C0085547 semapv:UnspecifiedMatching -orphanet.ordo:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching -orphanet.ordo:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching -orphanet.ordo:221 Dermatomyositis oboInOwl:hasDbXref MESH:D003882 semapv:UnspecifiedMatching -orphanet.ordo:221 Dermatomyositis oboInOwl:hasDbXref MeSH:D003882 semapv:UnspecifiedMatching -orphanet.ordo:221 Dermatomyositis oboInOwl:hasDbXref MedDRA:10012503 semapv:UnspecifiedMatching -orphanet.ordo:221 Dermatomyositis oboInOwl:hasDbXref UMLS:C0011633 semapv:UnspecifiedMatching -orphanet.ordo:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching -orphanet.ordo:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:618625 semapv:UnspecifiedMatching -orphanet.ordo:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching -orphanet.ordo:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref OMIM:173700 semapv:UnspecifiedMatching -orphanet.ordo:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref UMLS:C1275083 semapv:UnspecifiedMatching -orphanet.ordo:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref OMIM:615704 semapv:UnspecifiedMatching -orphanet.ordo:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 semapv:UnspecifiedMatching -orphanet.ordo:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref UMLS:C1858723 semapv:UnspecifiedMatching -orphanet.ordo:221054 Acrocephalopolydactyly oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:221054 Acrocephalopolydactyly oboInOwl:hasDbXref OMIM:200995 semapv:UnspecifiedMatching -orphanet.ordo:221054 Acrocephalopolydactyly oboInOwl:hasDbXref UMLS:C1860157 semapv:UnspecifiedMatching -orphanet.ordo:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching -orphanet.ordo:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:116860 semapv:UnspecifiedMatching -orphanet.ordo:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:603284 semapv:UnspecifiedMatching -orphanet.ordo:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:603285 semapv:UnspecifiedMatching -orphanet.ordo:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:619538 semapv:UnspecifiedMatching -orphanet.ordo:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref UMLS:C2931263 semapv:UnspecifiedMatching -orphanet.ordo:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref ICD10:G37.1 semapv:UnspecifiedMatching -orphanet.ordo:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MESH:D054319 semapv:UnspecifiedMatching -orphanet.ordo:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MeSH:D054319 semapv:UnspecifiedMatching -orphanet.ordo:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MedDRA:10026828 semapv:UnspecifiedMatching -orphanet.ordo:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref UMLS:C0238265 semapv:UnspecifiedMatching -orphanet.ordo:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref ICD10:G52.7 semapv:UnspecifiedMatching -orphanet.ordo:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 semapv:UnspecifiedMatching -orphanet.ordo:221091 Trigeminal neuralgia oboInOwl:hasDbXref ICD10:G50.0 semapv:UnspecifiedMatching -orphanet.ordo:221091 Trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 semapv:UnspecifiedMatching -orphanet.ordo:221091 Trigeminal neuralgia oboInOwl:hasDbXref MeSH:D014277 semapv:UnspecifiedMatching -orphanet.ordo:221091 Trigeminal neuralgia oboInOwl:hasDbXref MedDRA:10044652 semapv:UnspecifiedMatching -orphanet.ordo:221091 Trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching -orphanet.ordo:221091 Trigeminal neuralgia oboInOwl:hasDbXref UMLS:C0040997 semapv:UnspecifiedMatching -orphanet.ordo:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10:G52.1 semapv:UnspecifiedMatching -orphanet.ordo:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref MedDRA:10018391 semapv:UnspecifiedMatching -orphanet.ordo:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS:C0154731 semapv:UnspecifiedMatching -orphanet.ordo:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:239710 semapv:UnspecifiedMatching -orphanet.ordo:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C1855904 semapv:UnspecifiedMatching -orphanet.ordo:221109 Cranial neuralgia oboInOwl:hasDbXref UMLS:C0010269 semapv:UnspecifiedMatching -orphanet.ordo:221117 Gerstmann syndrome oboInOwl:hasDbXref ICD10:F81.2 semapv:UnspecifiedMatching -orphanet.ordo:221117 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 semapv:UnspecifiedMatching -orphanet.ordo:221117 Gerstmann syndrome oboInOwl:hasDbXref MeSH:D005862 semapv:UnspecifiedMatching -orphanet.ordo:221117 Gerstmann syndrome oboInOwl:hasDbXref MedDRA:10048608 semapv:UnspecifiedMatching -orphanet.ordo:221117 Gerstmann syndrome oboInOwl:hasDbXref UMLS:C0017494 semapv:UnspecifiedMatching -orphanet.ordo:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref OMIM:600325 semapv:UnspecifiedMatching -orphanet.ordo:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref UMLS:C0795939 semapv:UnspecifiedMatching -orphanet.ordo:221126 Fowler vasculopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:221126 Fowler vasculopathy oboInOwl:hasDbXref MedDRA:10071718 semapv:UnspecifiedMatching -orphanet.ordo:221126 Fowler vasculopathy oboInOwl:hasDbXref OMIM:225790 semapv:UnspecifiedMatching -orphanet.ordo:221126 Fowler vasculopathy oboInOwl:hasDbXref UMLS:C1856972 semapv:UnspecifiedMatching -orphanet.ordo:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref OMIM:613328 semapv:UnspecifiedMatching -orphanet.ordo:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref UMLS:C2750068 semapv:UnspecifiedMatching -orphanet.ordo:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching -orphanet.ordo:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref OMIM:613177 semapv:UnspecifiedMatching -orphanet.ordo:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref UMLS:C2750804 semapv:UnspecifiedMatching -orphanet.ordo:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref OMIM:239800 semapv:UnspecifiedMatching -orphanet.ordo:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref UMLS:C0220742 semapv:UnspecifiedMatching -orphanet.ordo:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref OMIM:217150 semapv:UnspecifiedMatching -orphanet.ordo:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref UMLS:C1857576 semapv:UnspecifiedMatching -orphanet.ordo:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:239840 semapv:UnspecifiedMatching -orphanet.ordo:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref UMLS:C0406464 semapv:UnspecifiedMatching -orphanet.ordo:2220 Hypertrichosis cubiti oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching -orphanet.ordo:2220 Hypertrichosis cubiti oboInOwl:hasDbXref MedDRA:10068636 semapv:UnspecifiedMatching -orphanet.ordo:2220 Hypertrichosis cubiti oboInOwl:hasDbXref OMIM:139600 semapv:UnspecifiedMatching -orphanet.ordo:2220 Hypertrichosis cubiti oboInOwl:hasDbXref UMLS:C1841696 semapv:UnspecifiedMatching -orphanet.ordo:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref ICD10:L68.1 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref MESH:C538389 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref MeSH:C538389 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:145700 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:307150 semapv:UnspecifiedMatching -orphanet.ordo:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref UMLS:C0235864 semapv:UnspecifiedMatching -orphanet.ordo:2224 Hypertryptophanemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:2224 Hypertryptophanemia oboInOwl:hasDbXref MESH:C538393 semapv:UnspecifiedMatching -orphanet.ordo:2224 Hypertryptophanemia oboInOwl:hasDbXref MeSH:C538393 semapv:UnspecifiedMatching -orphanet.ordo:2224 Hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:UnspecifiedMatching -orphanet.ordo:2224 Hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 semapv:UnspecifiedMatching -orphanet.ordo:2227 NON RARE IN EUROPE: Hypodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching -orphanet.ordo:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref OMIM:189500 semapv:UnspecifiedMatching -orphanet.ordo:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref UMLS:C0406735 semapv:UnspecifiedMatching -orphanet.ordo:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching -orphanet.ordo:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796083 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MeSH:D018500 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MedDRA:10029147 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 semapv:UnspecifiedMatching -orphanet.ordo:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching -orphanet.ordo:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching -orphanet.ordo:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching -orphanet.ordo:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref OMIM:241090 semapv:UnspecifiedMatching -orphanet.ordo:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref UMLS:C2931374 semapv:UnspecifiedMatching -orphanet.ordo:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931685 semapv:UnspecifiedMatching -orphanet.ordo:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:307500 semapv:UnspecifiedMatching -orphanet.ordo:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C2931285 semapv:UnspecifiedMatching -orphanet.ordo:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C2931722 semapv:UnspecifiedMatching -orphanet.ordo:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref OMIM:146255 semapv:UnspecifiedMatching -orphanet.ordo:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref UMLS:C1840333 semapv:UnspecifiedMatching -orphanet.ordo:223727 Bone sarcoma oboInOwl:hasDbXref MedDRA:10006007 semapv:UnspecifiedMatching -orphanet.ordo:223727 Bone sarcoma oboInOwl:hasDbXref UMLS:C0029463 semapv:UnspecifiedMatching -orphanet.ordo:223735 Lymphoma oboInOwl:hasDbXref MESH:D008223 semapv:UnspecifiedMatching -orphanet.ordo:223735 Lymphoma oboInOwl:hasDbXref MeSH:D008223 semapv:UnspecifiedMatching -orphanet.ordo:223735 Lymphoma oboInOwl:hasDbXref MedDRA:10025310 semapv:UnspecifiedMatching -orphanet.ordo:223735 Lymphoma oboInOwl:hasDbXref UMLS:C0024299 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref MESH:C537156 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref MeSH:C537156 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:615361 semapv:UnspecifiedMatching -orphanet.ordo:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref UMLS:C1832648 semapv:UnspecifiedMatching -orphanet.ordo:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching -orphanet.ordo:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching -orphanet.ordo:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching -orphanet.ordo:224 Neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:224 Neonatal diabetes mellitus oboInOwl:hasDbXref MedDRA:10028933 semapv:UnspecifiedMatching -orphanet.ordo:224 Neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C0158981 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:249210 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619351 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619362 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619365 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619431 semapv:UnspecifiedMatching -orphanet.ordo:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref UMLS:C1608393 semapv:UnspecifiedMatching -orphanet.ordo:2244 Hypopituitarism-microphthalmia syndrome oboInOwl:hasDbXref UMLS:C2931361 semapv:UnspecifiedMatching -orphanet.ordo:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref OMIM:213000 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref ICD10:Q23.4 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MESH:D018636 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MeSH:D018636 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MedDRA:10021076 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:241550 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:614435 semapv:UnspecifiedMatching -orphanet.ordo:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref UMLS:C0152101 semapv:UnspecifiedMatching -orphanet.ordo:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536934 semapv:UnspecifiedMatching -orphanet.ordo:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref MeSH:C536934 semapv:UnspecifiedMatching -orphanet.ordo:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:276821 semapv:UnspecifiedMatching -orphanet.ordo:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MESH:C536246 semapv:UnspecifiedMatching -orphanet.ordo:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MeSH:C536246 semapv:UnspecifiedMatching -orphanet.ordo:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref OMIM:520000 semapv:UnspecifiedMatching -orphanet.ordo:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref UMLS:C0342289 semapv:UnspecifiedMatching -orphanet.ordo:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching -orphanet.ordo:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref MESH:C536904 semapv:UnspecifiedMatching -orphanet.ordo:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref MeSH:C536904 semapv:UnspecifiedMatching -orphanet.ordo:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref OMIM:188150 semapv:UnspecifiedMatching -orphanet.ordo:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref UMLS:C2931366 semapv:UnspecifiedMatching -orphanet.ordo:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching -orphanet.ordo:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref MeSH:C537248 semapv:UnspecifiedMatching -orphanet.ordo:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching -orphanet.ordo:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref UMLS:C1858664 semapv:UnspecifiedMatching -orphanet.ordo:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching -orphanet.ordo:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching -orphanet.ordo:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching -orphanet.ordo:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching -orphanet.ordo:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref OMIM:179250 semapv:UnspecifiedMatching -orphanet.ordo:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref UMLS:C1867397 semapv:UnspecifiedMatching -orphanet.ordo:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching -orphanet.ordo:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref OMIM:136520 semapv:UnspecifiedMatching -orphanet.ordo:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref UMLS:C2931644 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref MESH:C548069 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref MeSH:C548069 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:607596 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:614678 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:616081 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:618065 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:619303 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:619304 semapv:UnspecifiedMatching -orphanet.ordo:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref UMLS:C1843504 semapv:UnspecifiedMatching -orphanet.ordo:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref OMIM:600001 semapv:UnspecifiedMatching -orphanet.ordo:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref UMLS:C2931296 semapv:UnspecifiedMatching -orphanet.ordo:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref OMIM:228940 semapv:UnspecifiedMatching -orphanet.ordo:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref UMLS:C1856727 semapv:UnspecifiedMatching -orphanet.ordo:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching -orphanet.ordo:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref OMIM:265430 semapv:UnspecifiedMatching -orphanet.ordo:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref MESH:C537896 semapv:UnspecifiedMatching -orphanet.ordo:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref MeSH:C537896 semapv:UnspecifiedMatching -orphanet.ordo:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref OMIM:261630 semapv:UnspecifiedMatching -orphanet.ordo:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref UMLS:C0268465 semapv:UnspecifiedMatching -orphanet.ordo:2260 Oligomeganephronia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching -orphanet.ordo:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref OMIM:241760 semapv:UnspecifiedMatching -orphanet.ordo:226298 Central congenital hypothyroidism oboInOwl:hasDbXref UMLS:C3665349 semapv:UnspecifiedMatching -orphanet.ordo:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching -orphanet.ordo:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching -orphanet.ordo:2266 Hypotrichosis-intellectual disability, Lopes type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2268 ICF syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:2268 ICF syndrome oboInOwl:hasDbXref OMIM:242860 semapv:UnspecifiedMatching -orphanet.ordo:2268 ICF syndrome oboInOwl:hasDbXref OMIM:614069 semapv:UnspecifiedMatching -orphanet.ordo:2268 ICF syndrome oboInOwl:hasDbXref OMIM:616910 semapv:UnspecifiedMatching -orphanet.ordo:2268 ICF syndrome oboInOwl:hasDbXref OMIM:616911 semapv:UnspecifiedMatching -orphanet.ordo:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref OMIM:242510 semapv:UnspecifiedMatching -orphanet.ordo:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855788 semapv:UnspecifiedMatching -orphanet.ordo:227 Diphallia oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching -orphanet.ordo:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref OMIM:258840 semapv:UnspecifiedMatching -orphanet.ordo:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref UMLS:C1850268 semapv:UnspecifiedMatching -orphanet.ordo:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching -orphanet.ordo:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref MeSH:C536085 semapv:UnspecifiedMatching -orphanet.ordo:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching -orphanet.ordo:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:619016 semapv:UnspecifiedMatching -orphanet.ordo:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref UMLS:C1839988 semapv:UnspecifiedMatching -orphanet.ordo:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref OMIM:242520 semapv:UnspecifiedMatching -orphanet.ordo:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref UMLS:C1275088 semapv:UnspecifiedMatching -orphanet.ordo:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:604370 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:612555 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:613399 semapv:UnspecifiedMatching -orphanet.ordo:227535 Hereditary breast cancer oboInOwl:hasDbXref UMLS:C0346153 semapv:UnspecifiedMatching -orphanet.ordo:227796 Fundus albipunctatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:227796 Fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching -orphanet.ordo:227796 Fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 semapv:UnspecifiedMatching -orphanet.ordo:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref MESH:C536274 semapv:UnspecifiedMatching -orphanet.ordo:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref MeSH:C536274 semapv:UnspecifiedMatching -orphanet.ordo:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref OMIM:242530 semapv:UnspecifiedMatching -orphanet.ordo:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref UMLS:C1855787 semapv:UnspecifiedMatching -orphanet.ordo:227972 Toxic oil syndrome oboInOwl:hasDbXref ICD10:X46 semapv:UnspecifiedMatching -orphanet.ordo:227972 Toxic oil syndrome oboInOwl:hasDbXref MedDRA:10051222 semapv:UnspecifiedMatching -orphanet.ordo:227972 Toxic oil syndrome oboInOwl:hasDbXref UMLS:C0409998 semapv:UnspecifiedMatching -orphanet.ordo:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref OMIM:612989 semapv:UnspecifiedMatching -orphanet.ordo:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching -orphanet.ordo:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref UMLS:C1535942 semapv:UnspecifiedMatching -orphanet.ordo:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching -orphanet.ordo:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -orphanet.ordo:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching -orphanet.ordo:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref OMIM:615401 semapv:UnspecifiedMatching -orphanet.ordo:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching -orphanet.ordo:228113 Anal fistula oboInOwl:hasDbXref ICD10:K60.3 semapv:UnspecifiedMatching -orphanet.ordo:228113 Anal fistula oboInOwl:hasDbXref MedDRA:10002156 semapv:UnspecifiedMatching -orphanet.ordo:228113 Anal fistula oboInOwl:hasDbXref UMLS:C0205929 semapv:UnspecifiedMatching -orphanet.ordo:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching -orphanet.ordo:228119 Fusariosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching -orphanet.ordo:228119 Fusariosis oboInOwl:hasDbXref MedDRA:10051919 semapv:UnspecifiedMatching -orphanet.ordo:228119 Fusariosis oboInOwl:hasDbXref UMLS:C0276758 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.0 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.1 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.2 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.3 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.4 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.7 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.8 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.9 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref MESH:D003047 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref MeSH:D003047 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref MedDRA:10009825 semapv:UnspecifiedMatching -orphanet.ordo:228123 Coccidioidomycosis oboInOwl:hasDbXref UMLS:C0009186 semapv:UnspecifiedMatching -orphanet.ordo:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref ICD10:I49.0 semapv:UnspecifiedMatching -orphanet.ordo:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref OMIM:603829 semapv:UnspecifiedMatching -orphanet.ordo:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref OMIM:612956 semapv:UnspecifiedMatching -orphanet.ordo:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching -orphanet.ordo:228165 Baló concentric sclerosis oboInOwl:hasDbXref ICD10:G37.5 semapv:UnspecifiedMatching -orphanet.ordo:228165 Baló concentric sclerosis oboInOwl:hasDbXref MedDRA:10010252 semapv:UnspecifiedMatching -orphanet.ordo:228165 Baló concentric sclerosis oboInOwl:hasDbXref UMLS:C0004712 semapv:UnspecifiedMatching -orphanet.ordo:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref OMIM:609161 semapv:UnspecifiedMatching -orphanet.ordo:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref UMLS:C1836694 semapv:UnspecifiedMatching -orphanet.ordo:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref OMIM:613287 semapv:UnspecifiedMatching -orphanet.ordo:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref UMLS:C2750090 semapv:UnspecifiedMatching -orphanet.ordo:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching -orphanet.ordo:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref UMLS:C1847902 semapv:UnspecifiedMatching -orphanet.ordo:228184 Heart-hand syndrome oboInOwl:hasDbXref UMLS:C0265264 semapv:UnspecifiedMatching -orphanet.ordo:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref OMIM:604381 semapv:UnspecifiedMatching -orphanet.ordo:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref UMLS:C1858420 semapv:UnspecifiedMatching -orphanet.ordo:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:228227 Late-onset focal dermal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228236 Linear focal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228240 Elastoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228240 Elastoderma oboInOwl:hasDbXref UMLS:C0406555 semapv:UnspecifiedMatching -orphanet.ordo:228243 Elastofibroma dorsi oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C1274759 semapv:UnspecifiedMatching -orphanet.ordo:228254 Elastoma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:228264 Papular elastorrhexis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.1 semapv:UnspecifiedMatching -orphanet.ordo:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.2 semapv:UnspecifiedMatching -orphanet.ordo:228272 Primary anetoderma oboInOwl:hasDbXref UMLS:C0406550 semapv:UnspecifiedMatching -orphanet.ordo:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching -orphanet.ordo:228285 Acquired cutis laxa oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228285 Acquired cutis laxa oboInOwl:hasDbXref UMLS:C0406549 semapv:UnspecifiedMatching -orphanet.ordo:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228299 Mid-dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching -orphanet.ordo:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref UMLS:C1833508 semapv:UnspecifiedMatching -orphanet.ordo:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching -orphanet.ordo:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref UMLS:C1833511 semapv:UnspecifiedMatching -orphanet.ordo:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching -orphanet.ordo:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref UMLS:C1833518 semapv:UnspecifiedMatching -orphanet.ordo:228312 Autoimmune hemolytic anemia, cold type oboInOwl:hasDbXref UMLS:C0175816 semapv:UnspecifiedMatching -orphanet.ordo:228329 CLN1 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228329 CLN1 disease oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -orphanet.ordo:228329 CLN1 disease oboInOwl:hasDbXref UMLS:C1850451 semapv:UnspecifiedMatching -orphanet.ordo:228337 CLN10 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228337 CLN10 disease oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -orphanet.ordo:228337 CLN10 disease oboInOwl:hasDbXref UMLS:C1864669 semapv:UnspecifiedMatching -orphanet.ordo:228340 CLN4A disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228340 CLN4A disease oboInOwl:hasDbXref OMIM:204300 semapv:UnspecifiedMatching -orphanet.ordo:228343 CLN4B disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228343 CLN4B disease oboInOwl:hasDbXref OMIM:162350 semapv:UnspecifiedMatching -orphanet.ordo:228346 CLN3 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228346 CLN3 disease oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching -orphanet.ordo:228349 CLN2 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228349 CLN2 disease oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching -orphanet.ordo:228349 CLN2 disease oboInOwl:hasDbXref UMLS:C1876161 semapv:UnspecifiedMatching -orphanet.ordo:228354 CLN8 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228354 CLN8 disease oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching -orphanet.ordo:228354 CLN8 disease oboInOwl:hasDbXref UMLS:C1838570 semapv:UnspecifiedMatching -orphanet.ordo:228357 CLN9 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228357 CLN9 disease oboInOwl:hasDbXref OMIM:609055 semapv:UnspecifiedMatching -orphanet.ordo:228357 CLN9 disease oboInOwl:hasDbXref UMLS:C1836841 semapv:UnspecifiedMatching -orphanet.ordo:228360 CLN5 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228360 CLN5 disease oboInOwl:hasDbXref OMIM:256731 semapv:UnspecifiedMatching -orphanet.ordo:228360 CLN5 disease oboInOwl:hasDbXref UMLS:C1850442 semapv:UnspecifiedMatching -orphanet.ordo:228363 CLN6 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228363 CLN6 disease oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching -orphanet.ordo:228363 CLN6 disease oboInOwl:hasDbXref UMLS:C1866282 semapv:UnspecifiedMatching -orphanet.ordo:228366 CLN7 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:228366 CLN7 disease oboInOwl:hasDbXref OMIM:610951 semapv:UnspecifiedMatching -orphanet.ordo:228366 CLN7 disease oboInOwl:hasDbXref UMLS:C1838571 semapv:UnspecifiedMatching -orphanet.ordo:228371 Foodborne botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:228371 Foodborne botulism oboInOwl:hasDbXref UMLS:C1739094 semapv:UnspecifiedMatching -orphanet.ordo:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching -orphanet.ordo:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref ICD10:L08.8 semapv:UnspecifiedMatching -orphanet.ordo:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref UMLS:C3267126 semapv:UnspecifiedMatching -orphanet.ordo:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:613443 semapv:UnspecifiedMatching -orphanet.ordo:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref OMIM:613330 semapv:UnspecifiedMatching -orphanet.ordo:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C2750066 semapv:UnspecifiedMatching -orphanet.ordo:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome oboInOwl:hasDbXref OMIM:613451 semapv:UnspecifiedMatching -orphanet.ordo:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:228399 8q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching -orphanet.ordo:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching -orphanet.ordo:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -orphanet.ordo:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching -orphanet.ordo:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref OMIM:613385 semapv:UnspecifiedMatching -orphanet.ordo:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching -orphanet.ordo:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref UMLS:C2750069 semapv:UnspecifiedMatching -orphanet.ordo:2285 Primary basilar invagination oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:2285 Primary basilar invagination oboInOwl:hasDbXref OMIM:109500 semapv:UnspecifiedMatching -orphanet.ordo:2285 Primary basilar invagination oboInOwl:hasDbXref UMLS:C1862299 semapv:UnspecifiedMatching -orphanet.ordo:2287 Fused mandibular incisors oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching -orphanet.ordo:2287 Fused mandibular incisors oboInOwl:hasDbXref MESH:C535997 semapv:UnspecifiedMatching -orphanet.ordo:2287 Fused mandibular incisors oboInOwl:hasDbXref MeSH:C535997 semapv:UnspecifiedMatching -orphanet.ordo:2287 Fused mandibular incisors oboInOwl:hasDbXref OMIM:147251 semapv:UnspecifiedMatching -orphanet.ordo:2287 Fused mandibular incisors oboInOwl:hasDbXref UMLS:C3494175 semapv:UnspecifiedMatching -orphanet.ordo:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MESH:C537395 semapv:UnspecifiedMatching -orphanet.ordo:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MeSH:C537395 semapv:UnspecifiedMatching -orphanet.ordo:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 semapv:UnspecifiedMatching -orphanet.ordo:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref UMLS:C1863843 semapv:UnspecifiedMatching -orphanet.ordo:229 Familial aortic dissection oboInOwl:hasDbXref ICD10:I71.0 semapv:UnspecifiedMatching -orphanet.ordo:229 Familial aortic dissection oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching -orphanet.ordo:229 Familial aortic dissection oboInOwl:hasDbXref UMLS:C0392775 semapv:UnspecifiedMatching -orphanet.ordo:2290 Microvillus inclusion disease oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching -orphanet.ordo:2290 Microvillus inclusion disease oboInOwl:hasDbXref MedDRA:10068494 semapv:UnspecifiedMatching -orphanet.ordo:2290 Microvillus inclusion disease oboInOwl:hasDbXref OMIM:251850 semapv:UnspecifiedMatching -orphanet.ordo:2290 Microvillus inclusion disease oboInOwl:hasDbXref OMIM:619445 semapv:UnspecifiedMatching -orphanet.ordo:2290 Microvillus inclusion disease oboInOwl:hasDbXref UMLS:C0341306 semapv:UnspecifiedMatching -orphanet.ordo:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref ICD10:J39.2 semapv:UnspecifiedMatching -orphanet.ordo:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref OMIM:167500 semapv:UnspecifiedMatching -orphanet.ordo:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref UMLS:C1997202 semapv:UnspecifiedMatching -orphanet.ordo:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref OMIM:147900 semapv:UnspecifiedMatching -orphanet.ordo:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref UMLS:C0268349 semapv:UnspecifiedMatching -orphanet.ordo:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref OMIM:610549 semapv:UnspecifiedMatching -orphanet.ordo:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref UMLS:C0342336 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:601495 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:612692 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613500 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613501 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613502 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613506 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:615214 semapv:UnspecifiedMatching -orphanet.ordo:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:616941 semapv:UnspecifiedMatching -orphanet.ordo:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref UMLS:C0342337 semapv:UnspecifiedMatching -orphanet.ordo:2299 Aortic arch interruption oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:2299 Aortic arch interruption oboInOwl:hasDbXref MedDRA:10022599 semapv:UnspecifiedMatching -orphanet.ordo:2299 Aortic arch interruption oboInOwl:hasDbXref UMLS:C0152419 semapv:UnspecifiedMatching -orphanet.ordo:23 Argininosuccinic aciduria oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:23 Argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 semapv:UnspecifiedMatching -orphanet.ordo:23 Argininosuccinic aciduria oboInOwl:hasDbXref MeSH:D056807 semapv:UnspecifiedMatching -orphanet.ordo:23 Argininosuccinic aciduria oboInOwl:hasDbXref MedDRA:10058299 semapv:UnspecifiedMatching -orphanet.ordo:23 Argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 semapv:UnspecifiedMatching -orphanet.ordo:23 Argininosuccinic aciduria oboInOwl:hasDbXref UMLS:C0268547 semapv:UnspecifiedMatching -orphanet.ordo:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 semapv:UnspecifiedMatching -orphanet.ordo:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MeSH:C535600 semapv:UnspecifiedMatching -orphanet.ordo:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 semapv:UnspecifiedMatching -orphanet.ordo:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0342687 semapv:UnspecifiedMatching -orphanet.ordo:2300 Multiple intestinal atresia oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching -orphanet.ordo:2300 Multiple intestinal atresia oboInOwl:hasDbXref MedDRA:10028210 semapv:UnspecifiedMatching -orphanet.ordo:2300 Multiple intestinal atresia oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching -orphanet.ordo:2300 Multiple intestinal atresia oboInOwl:hasDbXref OMIM:619708 semapv:UnspecifiedMatching -orphanet.ordo:2300 Multiple intestinal atresia oboInOwl:hasDbXref UMLS:C0220744 semapv:UnspecifiedMatching -orphanet.ordo:2301 Congenital short bowel syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching -orphanet.ordo:2301 Congenital short bowel syndrome oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching -orphanet.ordo:2301 Congenital short bowel syndrome oboInOwl:hasDbXref OMIM:615237 semapv:UnspecifiedMatching -orphanet.ordo:2302 Asbestos intoxication oboInOwl:hasDbXref ICD10:J61 semapv:UnspecifiedMatching -orphanet.ordo:2302 Asbestos intoxication oboInOwl:hasDbXref UMLS:C0003949 semapv:UnspecifiedMatching -orphanet.ordo:2305 Isotretinoin syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:2305 Isotretinoin syndrome oboInOwl:hasDbXref UMLS:C2930972 semapv:UnspecifiedMatching -orphanet.ordo:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref OMIM:243440 semapv:UnspecifiedMatching -orphanet.ordo:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref UMLS:C0432364 semapv:UnspecifiedMatching -orphanet.ordo:2307 IVIC syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching -orphanet.ordo:2307 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching -orphanet.ordo:2307 IVIC syndrome oboInOwl:hasDbXref UMLS:C1327918 semapv:UnspecifiedMatching -orphanet.ordo:2308 Jacobsen syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:2308 Jacobsen syndrome oboInOwl:hasDbXref MESH:D054868 semapv:UnspecifiedMatching -orphanet.ordo:2308 Jacobsen syndrome oboInOwl:hasDbXref MeSH:D054868 semapv:UnspecifiedMatching -orphanet.ordo:2308 Jacobsen syndrome oboInOwl:hasDbXref OMIM:147791 semapv:UnspecifiedMatching -orphanet.ordo:2308 Jacobsen syndrome oboInOwl:hasDbXref UMLS:C0795841 semapv:UnspecifiedMatching -orphanet.ordo:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref OMIM:606408 semapv:UnspecifiedMatching -orphanet.ordo:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref UMLS:C1848029 semapv:UnspecifiedMatching -orphanet.ordo:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225320 semapv:UnspecifiedMatching -orphanet.ordo:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C1857034 semapv:UnspecifiedMatching -orphanet.ordo:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619115 semapv:UnspecifiedMatching -orphanet.ordo:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619120 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref ICD10:Q84.5 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref MESH:D053549 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref MeSH:D053549 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:167200 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:167210 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:260130 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615726 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615728 semapv:UnspecifiedMatching -orphanet.ordo:2309 Pachyonychia congenita oboInOwl:hasDbXref UMLS:C0265334 semapv:UnspecifiedMatching -orphanet.ordo:231 Dracunculiasis oboInOwl:hasDbXref ICD10:B72 semapv:UnspecifiedMatching -orphanet.ordo:231 Dracunculiasis oboInOwl:hasDbXref MESH:D004320 semapv:UnspecifiedMatching -orphanet.ordo:231 Dracunculiasis oboInOwl:hasDbXref MeSH:D004320 semapv:UnspecifiedMatching -orphanet.ordo:231 Dracunculiasis oboInOwl:hasDbXref MedDRA:10013618 semapv:UnspecifiedMatching -orphanet.ordo:231 Dracunculiasis oboInOwl:hasDbXref UMLS:C0013100 semapv:UnspecifiedMatching -orphanet.ordo:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref OMIM:246000 semapv:UnspecifiedMatching -orphanet.ordo:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref UMLS:C1855523 semapv:UnspecifiedMatching -orphanet.ordo:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching -orphanet.ordo:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref OMIM:122450 semapv:UnspecifiedMatching -orphanet.ordo:231031 Erythema palmare hereditarium oboInOwl:hasDbXref ICD10:L59.8 semapv:UnspecifiedMatching -orphanet.ordo:231031 Erythema palmare hereditarium oboInOwl:hasDbXref OMIM:133000 semapv:UnspecifiedMatching -orphanet.ordo:231031 Erythema palmare hereditarium oboInOwl:hasDbXref UMLS:C1851502 semapv:UnspecifiedMatching -orphanet.ordo:231040 Familial generalized lentiginosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching -orphanet.ordo:231040 Familial generalized lentiginosis oboInOwl:hasDbXref OMIM:151001 semapv:UnspecifiedMatching -orphanet.ordo:231080 High-grade dysplasia in patients with Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.8 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref MESH:C535781 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref MESH:C537565 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref MeSH:C535781 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref MeSH:C537565 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:277300 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:608681 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:609813 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:613686 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:616566 semapv:UnspecifiedMatching -orphanet.ordo:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref UMLS:C0265343 semapv:UnspecifiedMatching -orphanet.ordo:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching -orphanet.ordo:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching -orphanet.ordo:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching -orphanet.ordo:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref MedDRA:10013706 semapv:UnspecifiedMatching -orphanet.ordo:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref UMLS:C0263591 semapv:UnspecifiedMatching -orphanet.ordo:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching -orphanet.ordo:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref OMIM:609889 semapv:UnspecifiedMatching -orphanet.ordo:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref UMLS:C1835931 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref ICD10:I67.1 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:105800 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:300870 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:608542 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:609122 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:610213 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:611892 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612161 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612162 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612586 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612587 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:614252 semapv:UnspecifiedMatching -orphanet.ordo:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:618734 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276904 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:601067 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:602083 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:602097 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:618632 semapv:UnspecifiedMatching -orphanet.ordo:231169 Usher syndrome type 1 oboInOwl:hasDbXref UMLS:C0339533 semapv:UnspecifiedMatching -orphanet.ordo:231178 Usher syndrome type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:276901 semapv:UnspecifiedMatching -orphanet.ordo:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:605472 semapv:UnspecifiedMatching -orphanet.ordo:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching -orphanet.ordo:231178 Usher syndrome type 2 oboInOwl:hasDbXref UMLS:C0339534 semapv:UnspecifiedMatching -orphanet.ordo:231183 Usher syndrome type 3 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching -orphanet.ordo:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching -orphanet.ordo:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching -orphanet.ordo:231183 Usher syndrome type 3 oboInOwl:hasDbXref UMLS:C1568248 semapv:UnspecifiedMatching -orphanet.ordo:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref ICD10:P59.8 semapv:UnspecifiedMatching -orphanet.ordo:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref OMIM:237900 semapv:UnspecifiedMatching -orphanet.ordo:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref UMLS:C0270210 semapv:UnspecifiedMatching -orphanet.ordo:231214 Beta-thalassemia major oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching -orphanet.ordo:231214 Beta-thalassemia major oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching -orphanet.ordo:231214 Beta-thalassemia major oboInOwl:hasDbXref UMLS:C0002875 semapv:UnspecifiedMatching -orphanet.ordo:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching -orphanet.ordo:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref MedDRA:10062923 semapv:UnspecifiedMatching -orphanet.ordo:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching -orphanet.ordo:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref UMLS:C0472767 semapv:UnspecifiedMatching -orphanet.ordo:231226 Dominant beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching -orphanet.ordo:231226 Dominant beta-thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching -orphanet.ordo:231226 Dominant beta-thalassemia oboInOwl:hasDbXref UMLS:C1858990 semapv:UnspecifiedMatching -orphanet.ordo:231237 Delta-beta-thalassemia oboInOwl:hasDbXref ICD10:D56.2 semapv:UnspecifiedMatching -orphanet.ordo:231237 Delta-beta-thalassemia oboInOwl:hasDbXref MedDRA:10012236 semapv:UnspecifiedMatching -orphanet.ordo:231237 Delta-beta-thalassemia oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching -orphanet.ordo:231237 Delta-beta-thalassemia oboInOwl:hasDbXref UMLS:C0271985 semapv:UnspecifiedMatching -orphanet.ordo:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0472777 semapv:UnspecifiedMatching -orphanet.ordo:231256 Beta-thalassemia-trichothiodystrophy syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:314050 semapv:UnspecifiedMatching -orphanet.ordo:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching -orphanet.ordo:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref OMIM:147060 semapv:UnspecifiedMatching -orphanet.ordo:2314 Autosomal dominant hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C2936739 semapv:UnspecifiedMatching -orphanet.ordo:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching -orphanet.ordo:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C0585216 semapv:UnspecifiedMatching -orphanet.ordo:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:231457 Acute pandysautonomia oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:231457 Acute pandysautonomia oboInOwl:hasDbXref UMLS:C2315246 semapv:UnspecifiedMatching -orphanet.ordo:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref MESH:C535880 semapv:UnspecifiedMatching -orphanet.ordo:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref MeSH:C535880 semapv:UnspecifiedMatching -orphanet.ordo:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref OMIM:243800 semapv:UnspecifiedMatching -orphanet.ordo:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS:C0175692 semapv:UnspecifiedMatching -orphanet.ordo:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching -orphanet.ordo:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref OMIM:614073 semapv:UnspecifiedMatching -orphanet.ordo:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614072 semapv:UnspecifiedMatching -orphanet.ordo:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614074 semapv:UnspecifiedMatching -orphanet.ordo:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614075 semapv:UnspecifiedMatching -orphanet.ordo:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614076 semapv:UnspecifiedMatching -orphanet.ordo:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching -orphanet.ordo:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching -orphanet.ordo:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:619172 semapv:UnspecifiedMatching -orphanet.ordo:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching -orphanet.ordo:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:226440 semapv:UnspecifiedMatching -orphanet.ordo:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1856969 semapv:UnspecifiedMatching -orphanet.ordo:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching -orphanet.ordo:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0432322 semapv:UnspecifiedMatching -orphanet.ordo:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref UMLS:C4751164 semapv:UnspecifiedMatching -orphanet.ordo:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching -orphanet.ordo:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref MESH:C535882 semapv:UnspecifiedMatching -orphanet.ordo:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref MeSH:C535882 semapv:UnspecifiedMatching -orphanet.ordo:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref OMIM:147770 semapv:UnspecifiedMatching -orphanet.ordo:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref UMLS:C0796002 semapv:UnspecifiedMatching -orphanet.ordo:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching -orphanet.ordo:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:618160 semapv:UnspecifiedMatching -orphanet.ordo:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching -orphanet.ordo:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:618157 semapv:UnspecifiedMatching -orphanet.ordo:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref UMLS:C2748571 semapv:UnspecifiedMatching -orphanet.ordo:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching -orphanet.ordo:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref UMLS:C0271567 semapv:UnspecifiedMatching -orphanet.ordo:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching -orphanet.ordo:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching -orphanet.ordo:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref OMIM:221750 semapv:UnspecifiedMatching -orphanet.ordo:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching -orphanet.ordo:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome oboInOwl:hasDbXref UMLS:C5680927 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:243910 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:608091 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:610188 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:612285 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:614465 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:614844 semapv:UnspecifiedMatching -orphanet.ordo:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref UMLS:C1855675 semapv:UnspecifiedMatching -orphanet.ordo:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref MESH:C537690 semapv:UnspecifiedMatching -orphanet.ordo:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref MeSH:C537690 semapv:UnspecifiedMatching -orphanet.ordo:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref OMIM:216100 semapv:UnspecifiedMatching -orphanet.ordo:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref UMLS:C0796099 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.1 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref MESH:D000755 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref MeSH:D000755 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref MedDRA:10040641 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref OMIM:603903 semapv:UnspecifiedMatching -orphanet.ordo:232 Sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 semapv:UnspecifiedMatching -orphanet.ordo:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2321 Jung syndrome oboInOwl:hasDbXref MESH:C537694 semapv:UnspecifiedMatching -orphanet.ordo:2321 Jung syndrome oboInOwl:hasDbXref MeSH:C537694 semapv:UnspecifiedMatching -orphanet.ordo:2321 Jung syndrome oboInOwl:hasDbXref OMIM:601427 semapv:UnspecifiedMatching -orphanet.ordo:2321 Jung syndrome oboInOwl:hasDbXref UMLS:C1832362 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref MESH:C537705 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref MeSH:C537705 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref MedDRA:10063935 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref OMIM:147920 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref OMIM:300867 semapv:UnspecifiedMatching -orphanet.ordo:2322 Kabuki syndrome oboInOwl:hasDbXref UMLS:C0796004 semapv:UnspecifiedMatching -orphanet.ordo:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref OMIM:241410 semapv:UnspecifiedMatching -orphanet.ordo:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref UMLS:C1855840 semapv:UnspecifiedMatching -orphanet.ordo:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref MESH:C537706 semapv:UnspecifiedMatching -orphanet.ordo:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref MeSH:C537706 semapv:UnspecifiedMatching -orphanet.ordo:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref OMIM:259690 semapv:UnspecifiedMatching -orphanet.ordo:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref UMLS:C1850140 semapv:UnspecifiedMatching -orphanet.ordo:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref UMLS:C0432313 semapv:UnspecifiedMatching -orphanet.ordo:2326 Kallmann syndrome-heart disease syndrome oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref MESH:C537008 semapv:UnspecifiedMatching -orphanet.ordo:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref MeSH:C537008 semapv:UnspecifiedMatching -orphanet.ordo:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref OMIM:244300 semapv:UnspecifiedMatching -orphanet.ordo:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref UMLS:C0796005 semapv:UnspecifiedMatching -orphanet.ordo:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref MESH:C537319 semapv:UnspecifiedMatching -orphanet.ordo:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref MeSH:C537319 semapv:UnspecifiedMatching -orphanet.ordo:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref OMIM:183800 semapv:UnspecifiedMatching -orphanet.ordo:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref UMLS:C1866740 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref MESH:D004370 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref MeSH:D004370 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref MedDRA:10013799 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:126800 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:617041 semapv:UnspecifiedMatching -orphanet.ordo:233 Duane retraction syndrome oboInOwl:hasDbXref UMLS:C0013261 semapv:UnspecifiedMatching -orphanet.ordo:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref MedDRA:10058423 semapv:UnspecifiedMatching -orphanet.ordo:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref OMIM:141000 semapv:UnspecifiedMatching -orphanet.ordo:2330 Kasabach-Merritt syndrome oboInOwl:hasDbXref UMLS:C0221025 semapv:UnspecifiedMatching -orphanet.ordo:2331 Kawasaki disease oboInOwl:hasDbXref ICD10:M30.3 semapv:UnspecifiedMatching -orphanet.ordo:2331 Kawasaki disease oboInOwl:hasDbXref MedDRA:10023320 semapv:UnspecifiedMatching -orphanet.ordo:2331 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 semapv:UnspecifiedMatching -orphanet.ordo:2331 Kawasaki disease oboInOwl:hasDbXref UMLS:C0026691 semapv:UnspecifiedMatching -orphanet.ordo:2332 KBG syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2332 KBG syndrome oboInOwl:hasDbXref MESH:C537015 semapv:UnspecifiedMatching -orphanet.ordo:2332 KBG syndrome oboInOwl:hasDbXref MeSH:C537015 semapv:UnspecifiedMatching -orphanet.ordo:2332 KBG syndrome oboInOwl:hasDbXref OMIM:148050 semapv:UnspecifiedMatching -orphanet.ordo:2332 KBG syndrome oboInOwl:hasDbXref UMLS:C0220687 semapv:UnspecifiedMatching -orphanet.ordo:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref MESH:C537020 semapv:UnspecifiedMatching -orphanet.ordo:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref MeSH:C537020 semapv:UnspecifiedMatching -orphanet.ordo:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching -orphanet.ordo:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching -orphanet.ordo:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C0265291 semapv:UnspecifiedMatching -orphanet.ordo:2334 Autosomal dominant keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching -orphanet.ordo:2334 Autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching -orphanet.ordo:2334 Autosomal dominant keratitis oboInOwl:hasDbXref MeSH:C537022 semapv:UnspecifiedMatching -orphanet.ordo:2334 Autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching -orphanet.ordo:2334 Autosomal dominant keratitis oboInOwl:hasDbXref UMLS:C1835698 semapv:UnspecifiedMatching -orphanet.ordo:2335 NON RARE IN EUROPE: Isolated keratoconus oboInOwl:hasDbXref ICD10:K18.6 semapv:UnspecifiedMatching -orphanet.ordo:2337 Non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2337 Non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600231 semapv:UnspecifiedMatching -orphanet.ordo:2338 Isolated punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1274216 semapv:UnspecifiedMatching -orphanet.ordo:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref MESH:C536158 semapv:UnspecifiedMatching -orphanet.ordo:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref MeSH:C536158 semapv:UnspecifiedMatching -orphanet.ordo:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:308830 semapv:UnspecifiedMatching -orphanet.ordo:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C1839910 semapv:UnspecifiedMatching -orphanet.ordo:234 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching -orphanet.ordo:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 semapv:UnspecifiedMatching -orphanet.ordo:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MeSH:D007566 semapv:UnspecifiedMatching -orphanet.ordo:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MedDRA:10013800 semapv:UnspecifiedMatching -orphanet.ordo:234 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching -orphanet.ordo:234 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS:C0022350 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref MESH:C536159 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref MeSH:C536159 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:308800 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:612843 semapv:UnspecifiedMatching -orphanet.ordo:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref UMLS:C0343057 semapv:UnspecifiedMatching -orphanet.ordo:2342 Haim-Munk syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2342 Haim-Munk syndrome oboInOwl:hasDbXref MESH:C537627 semapv:UnspecifiedMatching -orphanet.ordo:2342 Haim-Munk syndrome oboInOwl:hasDbXref MeSH:C537627 semapv:UnspecifiedMatching -orphanet.ordo:2342 Haim-Munk syndrome oboInOwl:hasDbXref OMIM:245010 semapv:UnspecifiedMatching -orphanet.ordo:2342 Haim-Munk syndrome oboInOwl:hasDbXref UMLS:C1855627 semapv:UnspecifiedMatching -orphanet.ordo:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching -orphanet.ordo:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:118100 semapv:UnspecifiedMatching -orphanet.ordo:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:214300 semapv:UnspecifiedMatching -orphanet.ordo:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:613702 semapv:UnspecifiedMatching -orphanet.ordo:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref UMLS:C0022738 semapv:UnspecifiedMatching -orphanet.ordo:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref MESH:D007715 semapv:UnspecifiedMatching -orphanet.ordo:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref MeSH:D007715 semapv:UnspecifiedMatching -orphanet.ordo:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching -orphanet.ordo:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching -orphanet.ordo:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:608355 semapv:UnspecifiedMatching -orphanet.ordo:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref UMLS:C0022739 semapv:UnspecifiedMatching -orphanet.ordo:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref MESH:C537208 semapv:UnspecifiedMatching -orphanet.ordo:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref MeSH:C537208 semapv:UnspecifiedMatching -orphanet.ordo:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref OMIM:245190 semapv:UnspecifiedMatching -orphanet.ordo:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref UMLS:C1855605 semapv:UnspecifiedMatching -orphanet.ordo:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching -orphanet.ordo:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching -orphanet.ordo:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref UMLS:C0270958 semapv:UnspecifiedMatching -orphanet.ordo:235 Dubowitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:235 Dubowitz syndrome oboInOwl:hasDbXref MESH:C535718 semapv:UnspecifiedMatching -orphanet.ordo:235 Dubowitz syndrome oboInOwl:hasDbXref MeSH:C535718 semapv:UnspecifiedMatching -orphanet.ordo:235 Dubowitz syndrome oboInOwl:hasDbXref MedDRA:10059589 semapv:UnspecifiedMatching -orphanet.ordo:235 Dubowitz syndrome oboInOwl:hasDbXref OMIM:223370 semapv:UnspecifiedMatching -orphanet.ordo:235 Dubowitz syndrome oboInOwl:hasDbXref UMLS:C0175691 semapv:UnspecifiedMatching -orphanet.ordo:2351 Kousseff syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2351 Kousseff syndrome oboInOwl:hasDbXref UMLS:C2931444 semapv:UnspecifiedMatching -orphanet.ordo:2352 Kozlowski-Brown-Hardwick syndrome oboInOwl:hasDbXref MESH:C537506 semapv:UnspecifiedMatching -orphanet.ordo:2352 Kozlowski-Brown-Hardwick syndrome oboInOwl:hasDbXref MeSH:C537506 semapv:UnspecifiedMatching -orphanet.ordo:2352 Kozlowski-Brown-Hardwick syndrome oboInOwl:hasDbXref UMLS:C2931511 semapv:UnspecifiedMatching -orphanet.ordo:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref OMIM:164220 semapv:UnspecifiedMatching -orphanet.ordo:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref UMLS:C1834038 semapv:UnspecifiedMatching -orphanet.ordo:2355 Kumar-Levick syndrome oboInOwl:hasDbXref OMIM:106990 semapv:UnspecifiedMatching -orphanet.ordo:2355 Kumar-Levick syndrome oboInOwl:hasDbXref UMLS:C1862842 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref MESH:D016080 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref MeSH:D016080 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref MedDRA:10049005 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref OMIM:182990 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref OMIM:207790 semapv:UnspecifiedMatching -orphanet.ordo:2356 Arachnoid cyst oboInOwl:hasDbXref UMLS:C0078981 semapv:UnspecifiedMatching -orphanet.ordo:2357 Bronchogenic cyst oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching -orphanet.ordo:2357 Bronchogenic cyst oboInOwl:hasDbXref MESH:D001994 semapv:UnspecifiedMatching -orphanet.ordo:2357 Bronchogenic cyst oboInOwl:hasDbXref MeSH:D001994 semapv:UnspecifiedMatching -orphanet.ordo:2357 Bronchogenic cyst oboInOwl:hasDbXref MedDRA:10064585 semapv:UnspecifiedMatching -orphanet.ordo:2357 Bronchogenic cyst oboInOwl:hasDbXref UMLS:C0006281 semapv:UnspecifiedMatching -orphanet.ordo:235936 Familial hyperaldosteronism oboInOwl:hasDbXref UMLS:C3713420 semapv:UnspecifiedMatching -orphanet.ordo:236 Trisomy 9p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:236 Trisomy 9p oboInOwl:hasDbXref UMLS:C0265428 semapv:UnspecifiedMatching -orphanet.ordo:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:149730 semapv:UnspecifiedMatching -orphanet.ordo:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:620192 semapv:UnspecifiedMatching -orphanet.ordo:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:620193 semapv:UnspecifiedMatching -orphanet.ordo:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref UMLS:C0265269 semapv:UnspecifiedMatching -orphanet.ordo:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:612933 semapv:UnspecifiedMatching -orphanet.ordo:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614128 semapv:UnspecifiedMatching -orphanet.ordo:2368 Gastroschisis oboInOwl:hasDbXref ICD10:Q79.3 semapv:UnspecifiedMatching -orphanet.ordo:2368 Gastroschisis oboInOwl:hasDbXref MESH:D020139 semapv:UnspecifiedMatching -orphanet.ordo:2368 Gastroschisis oboInOwl:hasDbXref MeSH:D020139 semapv:UnspecifiedMatching -orphanet.ordo:2368 Gastroschisis oboInOwl:hasDbXref MedDRA:10018046 semapv:UnspecifiedMatching -orphanet.ordo:2368 Gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching -orphanet.ordo:2368 Gastroschisis oboInOwl:hasDbXref UMLS:C0265706 semapv:UnspecifiedMatching -orphanet.ordo:2369 Limb body wall complex oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:237 Duplication of urethra oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching -orphanet.ordo:237 Duplication of urethra oboInOwl:hasDbXref UMLS:C0266348 semapv:UnspecifiedMatching -orphanet.ordo:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref OMIM:608545 semapv:UnspecifiedMatching -orphanet.ordo:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref MESH:C537872 semapv:UnspecifiedMatching -orphanet.ordo:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref MeSH:C537872 semapv:UnspecifiedMatching -orphanet.ordo:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref OMIM:245650 semapv:UnspecifiedMatching -orphanet.ordo:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref UMLS:C1855535 semapv:UnspecifiedMatching -orphanet.ordo:2372 Laryngocele oboInOwl:hasDbXref ICD10:Q31.3 semapv:UnspecifiedMatching -orphanet.ordo:2372 Laryngocele oboInOwl:hasDbXref MedDRA:10023885 semapv:UnspecifiedMatching -orphanet.ordo:2372 Laryngocele oboInOwl:hasDbXref UMLS:C0265761 semapv:UnspecifiedMatching -orphanet.ordo:2373 Congenital laryngomalacia oboInOwl:hasDbXref ICD10:Q31.5 semapv:UnspecifiedMatching -orphanet.ordo:2373 Congenital laryngomalacia oboInOwl:hasDbXref MESH:D055092 semapv:UnspecifiedMatching -orphanet.ordo:2373 Congenital laryngomalacia oboInOwl:hasDbXref MeSH:D055092 semapv:UnspecifiedMatching -orphanet.ordo:2373 Congenital laryngomalacia oboInOwl:hasDbXref MedDRA:10060786 semapv:UnspecifiedMatching -orphanet.ordo:2373 Congenital laryngomalacia oboInOwl:hasDbXref OMIM:150280 semapv:UnspecifiedMatching -orphanet.ordo:2373 Congenital laryngomalacia oboInOwl:hasDbXref UMLS:C0345160 semapv:UnspecifiedMatching -orphanet.ordo:2374 Congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching -orphanet.ordo:2374 Congenital laryngeal web oboInOwl:hasDbXref MedDRA:10023871 semapv:UnspecifiedMatching -orphanet.ordo:2374 Congenital laryngeal web oboInOwl:hasDbXref OMIM:150360 semapv:UnspecifiedMatching -orphanet.ordo:2374 Congenital laryngeal web oboInOwl:hasDbXref UMLS:C0152416 semapv:UnspecifiedMatching -orphanet.ordo:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching -orphanet.ordo:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:308850 semapv:UnspecifiedMatching -orphanet.ordo:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0396059 semapv:UnspecifiedMatching -orphanet.ordo:2377 Laurence-Moon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MESH:D007849 semapv:UnspecifiedMatching -orphanet.ordo:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MeSH:D007849 semapv:UnspecifiedMatching -orphanet.ordo:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MedDRA:10056710 semapv:UnspecifiedMatching -orphanet.ordo:2377 Laurence-Moon syndrome oboInOwl:hasDbXref OMIM:245800 semapv:UnspecifiedMatching -orphanet.ordo:2377 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS:C0023138 semapv:UnspecifiedMatching -orphanet.ordo:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref MESH:C535689 semapv:UnspecifiedMatching -orphanet.ordo:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref MeSH:C535689 semapv:UnspecifiedMatching -orphanet.ordo:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref OMIM:135750 semapv:UnspecifiedMatching -orphanet.ordo:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref UMLS:C1851100 semapv:UnspecifiedMatching -orphanet.ordo:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching -orphanet.ordo:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796195 semapv:UnspecifiedMatching -orphanet.ordo:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -orphanet.ordo:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 semapv:UnspecifiedMatching -orphanet.ordo:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MedDRA:10034735 semapv:UnspecifiedMatching -orphanet.ordo:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref OMIM:150600 semapv:UnspecifiedMatching -orphanet.ordo:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MESH:C535500 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MeSH:C535500 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MedDRA:10048816 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:616346 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:617113 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:618141 semapv:UnspecifiedMatching -orphanet.ordo:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref UMLS:C0238111 semapv:UnspecifiedMatching -orphanet.ordo:238269 AApoAII amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:300816 semapv:UnspecifiedMatching -orphanet.ordo:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref OMIM:608636 semapv:UnspecifiedMatching -orphanet.ordo:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref UMLS:C2675336 semapv:UnspecifiedMatching -orphanet.ordo:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref OMIM:613135 semapv:UnspecifiedMatching -orphanet.ordo:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751067 semapv:UnspecifiedMatching -orphanet.ordo:238459 SLC35A1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:238459 SLC35A1-CDG oboInOwl:hasDbXref OMIM:603585 semapv:UnspecifiedMatching -orphanet.ordo:238459 SLC35A1-CDG oboInOwl:hasDbXref UMLS:C1970344 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching -orphanet.ordo:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching -orphanet.ordo:238475 Familial hypercholanemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:607748 semapv:UnspecifiedMatching -orphanet.ordo:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:619232 semapv:UnspecifiedMatching -orphanet.ordo:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:619256 semapv:UnspecifiedMatching -orphanet.ordo:238475 Familial hypercholanemia oboInOwl:hasDbXref UMLS:C1843139 semapv:UnspecifiedMatching -orphanet.ordo:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -orphanet.ordo:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref OMIM:615122 semapv:UnspecifiedMatching -orphanet.ordo:238510 Lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C0024314 semapv:UnspecifiedMatching -orphanet.ordo:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching -orphanet.ordo:238547 Acquired secondary polycythemia oboInOwl:hasDbXref UMLS:C1318533 semapv:UnspecifiedMatching -orphanet.ordo:238557 Chuvash erythrocytosis oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:238557 Chuvash erythrocytosis oboInOwl:hasDbXref OMIM:263400 semapv:UnspecifiedMatching -orphanet.ordo:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:612567 semapv:UnspecifiedMatching -orphanet.ordo:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:613148 semapv:UnspecifiedMatching -orphanet.ordo:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref OMIM:613618 semapv:UnspecifiedMatching -orphanet.ordo:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching -orphanet.ordo:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:261630 semapv:UnspecifiedMatching -orphanet.ordo:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:261640 semapv:UnspecifiedMatching -orphanet.ordo:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching -orphanet.ordo:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref UMLS:C0751436 semapv:UnspecifiedMatching -orphanet.ordo:238593 IgG4-related mesenteritis oboInOwl:hasDbXref ICD10:K65.8 semapv:UnspecifiedMatching -orphanet.ordo:238593 IgG4-related mesenteritis oboInOwl:hasDbXref UMLS:C0267770 semapv:UnspecifiedMatching -orphanet.ordo:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:238606 Primary orthostatic tremor oboInOwl:hasDbXref ICD10:G25.2 semapv:UnspecifiedMatching -orphanet.ordo:238606 Primary orthostatic tremor oboInOwl:hasDbXref MESH:C536418 semapv:UnspecifiedMatching -orphanet.ordo:238606 Primary orthostatic tremor oboInOwl:hasDbXref MeSH:C536418 semapv:UnspecifiedMatching -orphanet.ordo:238606 Primary orthostatic tremor oboInOwl:hasDbXref UMLS:C0878578 semapv:UnspecifiedMatching -orphanet.ordo:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching -orphanet.ordo:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching -orphanet.ordo:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.1 semapv:UnspecifiedMatching -orphanet.ordo:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching -orphanet.ordo:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching -orphanet.ordo:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 semapv:UnspecifiedMatching -orphanet.ordo:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching -orphanet.ordo:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref UMLS:C0033845 semapv:UnspecifiedMatching -orphanet.ordo:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref ICD10:Q62.7 semapv:UnspecifiedMatching -orphanet.ordo:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref UMLS:C0431752 semapv:UnspecifiedMatching -orphanet.ordo:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching -orphanet.ordo:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching -orphanet.ordo:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching -orphanet.ordo:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching -orphanet.ordo:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref OMIM:275120 semapv:UnspecifiedMatching -orphanet.ordo:238688 Neonatal iodine exposure oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching -orphanet.ordo:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching -orphanet.ordo:2387 Leukonychia totalis oboInOwl:hasDbXref ICD10:Q84.4 semapv:UnspecifiedMatching -orphanet.ordo:2387 Leukonychia totalis oboInOwl:hasDbXref MESH:C535889 semapv:UnspecifiedMatching -orphanet.ordo:2387 Leukonychia totalis oboInOwl:hasDbXref MeSH:C535889 semapv:UnspecifiedMatching -orphanet.ordo:2387 Leukonychia totalis oboInOwl:hasDbXref OMIM:151600 semapv:UnspecifiedMatching -orphanet.ordo:2387 Leukonychia totalis oboInOwl:hasDbXref UMLS:C0544855 semapv:UnspecifiedMatching -orphanet.ordo:238722 Familial congenital mirror movements oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:157600 semapv:UnspecifiedMatching -orphanet.ordo:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:614508 semapv:UnspecifiedMatching -orphanet.ordo:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:616059 semapv:UnspecifiedMatching -orphanet.ordo:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:618264 semapv:UnspecifiedMatching -orphanet.ordo:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref OMIM:613689 semapv:UnspecifiedMatching -orphanet.ordo:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref OMIM:613509 semapv:UnspecifiedMatching -orphanet.ordo:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref OMIM:251750 semapv:UnspecifiedMatching -orphanet.ordo:238766 Ptosis-syndactyly-learning difficulties syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:2388 Choreoacanthocytosis oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:2388 Choreoacanthocytosis oboInOwl:hasDbXref OMIM:200150 semapv:UnspecifiedMatching -orphanet.ordo:2388 Choreoacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 semapv:UnspecifiedMatching -orphanet.ordo:2389 Lewis-Pashayan syndrome oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching -orphanet.ordo:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref MESH:C535726 semapv:UnspecifiedMatching -orphanet.ordo:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref MeSH:C535726 semapv:UnspecifiedMatching -orphanet.ordo:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:223800 semapv:UnspecifiedMatching -orphanet.ordo:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:304950 semapv:UnspecifiedMatching -orphanet.ordo:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref UMLS:C0265286 semapv:UnspecifiedMatching -orphanet.ordo:2390 Lichtenstein syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:2390 Lichtenstein syndrome oboInOwl:hasDbXref OMIM:246550 semapv:UnspecifiedMatching -orphanet.ordo:2390 Lichtenstein syndrome oboInOwl:hasDbXref UMLS:C1855502 semapv:UnspecifiedMatching -orphanet.ordo:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref MESH:C536448 semapv:UnspecifiedMatching -orphanet.ordo:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref MeSH:C536448 semapv:UnspecifiedMatching -orphanet.ordo:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref OMIM:122580 semapv:UnspecifiedMatching -orphanet.ordo:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref UMLS:C1852523 semapv:UnspecifiedMatching -orphanet.ordo:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching -orphanet.ordo:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching -orphanet.ordo:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref MESH:C535736 semapv:UnspecifiedMatching -orphanet.ordo:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref MeSH:C535736 semapv:UnspecifiedMatching -orphanet.ordo:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref OMIM:613001 semapv:UnspecifiedMatching -orphanet.ordo:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref UMLS:C0406612 semapv:UnspecifiedMatching -orphanet.ordo:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 semapv:UnspecifiedMatching -orphanet.ordo:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0023804 semapv:UnspecifiedMatching -orphanet.ordo:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref OMIM:167730 semapv:UnspecifiedMatching -orphanet.ordo:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref UMLS:C1868660 semapv:UnspecifiedMatching -orphanet.ordo:24 Fumaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:24 Fumaric aciduria oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching -orphanet.ordo:24 Fumaric aciduria oboInOwl:hasDbXref MeSH:C538191 semapv:UnspecifiedMatching -orphanet.ordo:24 Fumaric aciduria oboInOwl:hasDbXref OMIM:606812 semapv:UnspecifiedMatching -orphanet.ordo:24 Fumaric aciduria oboInOwl:hasDbXref UMLS:C2936826 semapv:UnspecifiedMatching -orphanet.ordo:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref MESH:C537119 semapv:UnspecifiedMatching -orphanet.ordo:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref MeSH:C537119 semapv:UnspecifiedMatching -orphanet.ordo:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref OMIM:127300 semapv:UnspecifiedMatching -orphanet.ordo:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS:C0265309 semapv:UnspecifiedMatching -orphanet.ordo:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref MESH:C536988 semapv:UnspecifiedMatching -orphanet.ordo:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref MeSH:C536988 semapv:UnspecifiedMatching -orphanet.ordo:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref OMIM:252320 semapv:UnspecifiedMatching -orphanet.ordo:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref UMLS:C1854961 semapv:UnspecifiedMatching -orphanet.ordo:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:601104 semapv:UnspecifiedMatching -orphanet.ordo:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching -orphanet.ordo:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching -orphanet.ordo:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref UMLS:C0038868 semapv:UnspecifiedMatching -orphanet.ordo:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching -orphanet.ordo:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:2404 Loiasis oboInOwl:hasDbXref ICD10:B74.3 semapv:UnspecifiedMatching -orphanet.ordo:2404 Loiasis oboInOwl:hasDbXref MESH:D008118 semapv:UnspecifiedMatching -orphanet.ordo:2404 Loiasis oboInOwl:hasDbXref MeSH:D008118 semapv:UnspecifiedMatching -orphanet.ordo:2404 Loiasis oboInOwl:hasDbXref MedDRA:10024797 semapv:UnspecifiedMatching -orphanet.ordo:2404 Loiasis oboInOwl:hasDbXref UMLS:C0023968 semapv:UnspecifiedMatching -orphanet.ordo:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref ICD10:H90.0 semapv:UnspecifiedMatching -orphanet.ordo:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref OMIM:128980 semapv:UnspecifiedMatching -orphanet.ordo:2406 Locked-in syndrome oboInOwl:hasDbXref ICD10:G83.8 semapv:UnspecifiedMatching -orphanet.ordo:2406 Locked-in syndrome oboInOwl:hasDbXref MedDRA:10024792 semapv:UnspecifiedMatching -orphanet.ordo:2406 Locked-in syndrome oboInOwl:hasDbXref UMLS:C0023944 semapv:UnspecifiedMatching -orphanet.ordo:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref OMIM:245660 semapv:UnspecifiedMatching -orphanet.ordo:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref UMLS:C1328355 semapv:UnspecifiedMatching -orphanet.ordo:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref OMIM:613078 semapv:UnspecifiedMatching -orphanet.ordo:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref UMLS:C2751318 semapv:UnspecifiedMatching -orphanet.ordo:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref UMLS:C2931080 semapv:UnspecifiedMatching -orphanet.ordo:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref MESH:C537037 semapv:UnspecifiedMatching -orphanet.ordo:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref MeSH:C537037 semapv:UnspecifiedMatching -orphanet.ordo:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref OMIM:600252 semapv:UnspecifiedMatching -orphanet.ordo:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref UMLS:C0796020 semapv:UnspecifiedMatching -orphanet.ordo:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching -orphanet.ordo:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:127500 semapv:UnspecifiedMatching -orphanet.ordo:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:612715 semapv:UnspecifiedMatching -orphanet.ordo:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:615402 semapv:UnspecifiedMatching -orphanet.ordo:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS:C1306229 semapv:UnspecifiedMatching -orphanet.ordo:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching -orphanet.ordo:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref OMIM:240950 semapv:UnspecifiedMatching -orphanet.ordo:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref UMLS:C1855859 semapv:UnspecifiedMatching -orphanet.ordo:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref OMIM:601450 semapv:UnspecifiedMatching -orphanet.ordo:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching -orphanet.ordo:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref MESH:C537727 semapv:UnspecifiedMatching -orphanet.ordo:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref MeSH:C537727 semapv:UnspecifiedMatching -orphanet.ordo:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref OMIM:265300 semapv:UnspecifiedMatching -orphanet.ordo:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref UMLS:C1849554 semapv:UnspecifiedMatching -orphanet.ordo:2415 Rare lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:233420 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:300018 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:400044 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:613080 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching -orphanet.ordo:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref UMLS:C2936694 semapv:UnspecifiedMatching -orphanet.ordo:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref MedDRA:10037418 semapv:UnspecifiedMatching -orphanet.ordo:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref UMLS:C0519063 semapv:UnspecifiedMatching -orphanet.ordo:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref UMLS:C2931595 semapv:UnspecifiedMatching -orphanet.ordo:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:600302 semapv:UnspecifiedMatching -orphanet.ordo:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1838281 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref MESH:D023961 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref MeSH:D023961 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:233300 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:300510 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:614324 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618078 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618117 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618723 semapv:UnspecifiedMatching -orphanet.ordo:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0949595 semapv:UnspecifiedMatching -orphanet.ordo:2430 Congenital macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching -orphanet.ordo:2430 Congenital macroglossia oboInOwl:hasDbXref MESH:C531735 semapv:UnspecifiedMatching -orphanet.ordo:2430 Congenital macroglossia oboInOwl:hasDbXref MeSH:C531735 semapv:UnspecifiedMatching -orphanet.ordo:2430 Congenital macroglossia oboInOwl:hasDbXref OMIM:153630 semapv:UnspecifiedMatching -orphanet.ordo:2430 Congenital macroglossia oboInOwl:hasDbXref UMLS:C0009677 semapv:UnspecifiedMatching -orphanet.ordo:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref OMIM:248110 semapv:UnspecifiedMatching -orphanet.ordo:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1855467 semapv:UnspecifiedMatching -orphanet.ordo:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:605850 semapv:UnspecifiedMatching -orphanet.ordo:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1853892 semapv:UnspecifiedMatching -orphanet.ordo:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching -orphanet.ordo:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MESH:C537957 semapv:UnspecifiedMatching -orphanet.ordo:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MeSH:C537957 semapv:UnspecifiedMatching -orphanet.ordo:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MedDRA:10000746 semapv:UnspecifiedMatching -orphanet.ordo:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref UMLS:C1455728 semapv:UnspecifiedMatching -orphanet.ordo:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 oboInOwl:hasDbXref ICD10:E10 semapv:UnspecifiedMatching -orphanet.ordo:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1835172 semapv:UnspecifiedMatching -orphanet.ordo:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref OMIM:183802 semapv:UnspecifiedMatching -orphanet.ordo:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref UMLS:C1866739 semapv:UnspecifiedMatching -orphanet.ordo:243761 NON RARE IN EUROPE: Essential hypertension oboInOwl:hasDbXref ICD10:I10 semapv:UnspecifiedMatching -orphanet.ordo:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching -orphanet.ordo:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref MedDRA:10072361 semapv:UnspecifiedMatching -orphanet.ordo:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref OMIM:140000 semapv:UnspecifiedMatching -orphanet.ordo:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref UMLS:C1841679 semapv:UnspecifiedMatching -orphanet.ordo:2439 Patterson-Stevenson-Fontaine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2439 Patterson-Stevenson-Fontaine syndrome oboInOwl:hasDbXref OMIM:183700 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref MedDRA:10069713 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:215518 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:215520 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:242670 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:242680 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:300991 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:606763 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608644 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608646 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608647 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:610852 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:611884 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612274 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612444 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612518 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612649 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612650 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613193 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613807 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613808 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614017 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614679 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614874 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614935 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615067 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615294 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615444 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615451 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615481 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615482 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615500 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615504 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615505 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615872 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616037 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616481 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616726 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617091 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617092 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617577 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618063 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618254 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618449 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618695 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618781 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618801 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:619436 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:620032 semapv:UnspecifiedMatching -orphanet.ordo:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:620197 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:183600 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:225300 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:313350 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:605289 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:606708 semapv:UnspecifiedMatching -orphanet.ordo:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -orphanet.ordo:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref MESH:D008232 semapv:UnspecifiedMatching -orphanet.ordo:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref MeSH:D008232 semapv:UnspecifiedMatching -orphanet.ordo:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref MedDRA:10068348 semapv:UnspecifiedMatching -orphanet.ordo:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching -orphanet.ordo:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching -orphanet.ordo:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref UMLS:C0549463 semapv:UnspecifiedMatching -orphanet.ordo:244242 HELLP syndrome oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching -orphanet.ordo:244242 HELLP syndrome oboInOwl:hasDbXref MESH:D017359 semapv:UnspecifiedMatching -orphanet.ordo:244242 HELLP syndrome oboInOwl:hasDbXref MeSH:D017359 semapv:UnspecifiedMatching -orphanet.ordo:244242 HELLP syndrome oboInOwl:hasDbXref MedDRA:10049058 semapv:UnspecifiedMatching -orphanet.ordo:244242 HELLP syndrome oboInOwl:hasDbXref UMLS:C0162739 semapv:UnspecifiedMatching -orphanet.ordo:244275 De novo thrombotic microangiopathy after kidney transplantation oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching -orphanet.ordo:244283 Biliary atresia with splenic malformation syndrome oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching -orphanet.ordo:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref OMIM:612286 semapv:UnspecifiedMatching -orphanet.ordo:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref OMIM:612287 semapv:UnspecifiedMatching -orphanet.ordo:244310 RFT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:244310 RFT1-CDG oboInOwl:hasDbXref OMIM:612015 semapv:UnspecifiedMatching -orphanet.ordo:244310 RFT1-CDG oboInOwl:hasDbXref UMLS:C2677590 semapv:UnspecifiedMatching -orphanet.ordo:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching -orphanet.ordo:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref UMLS:C0010668 semapv:UnspecifiedMatching -orphanet.ordo:2445 Conotruncal heart malformations oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching -orphanet.ordo:2445 Conotruncal heart malformations oboInOwl:hasDbXref UMLS:C1857586 semapv:UnspecifiedMatching -orphanet.ordo:245 Nager syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:245 Nager syndrome oboInOwl:hasDbXref MESH:C538184 semapv:UnspecifiedMatching -orphanet.ordo:245 Nager syndrome oboInOwl:hasDbXref MeSH:C538184 semapv:UnspecifiedMatching -orphanet.ordo:245 Nager syndrome oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching -orphanet.ordo:245 Nager syndrome oboInOwl:hasDbXref UMLS:C0265245 semapv:UnspecifiedMatching -orphanet.ordo:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching -orphanet.ordo:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref OMIM:600195 semapv:UnspecifiedMatching -orphanet.ordo:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref UMLS:C1838437 semapv:UnspecifiedMatching -orphanet.ordo:2453 Malpuech syndrome oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching -orphanet.ordo:2453 Malpuech syndrome oboInOwl:hasDbXref UMLS:C0796032 semapv:UnspecifiedMatching -orphanet.ordo:2456 Familial supernumerary nipples oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching -orphanet.ordo:2456 Familial supernumerary nipples oboInOwl:hasDbXref OMIM:163700 semapv:UnspecifiedMatching -orphanet.ordo:2456 Familial supernumerary nipples oboInOwl:hasDbXref UMLS:C0266011 semapv:UnspecifiedMatching -orphanet.ordo:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching -orphanet.ordo:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching -orphanet.ordo:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref UMLS:C0432291 semapv:UnspecifiedMatching -orphanet.ordo:2459 Mansonelliasis oboInOwl:hasDbXref ICD10:B74.4 semapv:UnspecifiedMatching -orphanet.ordo:2459 Mansonelliasis oboInOwl:hasDbXref UMLS:C0024759 semapv:UnspecifiedMatching -orphanet.ordo:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref OMIM:263750 semapv:UnspecifiedMatching -orphanet.ordo:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS:C0265257 semapv:UnspecifiedMatching -orphanet.ordo:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref OMIM:600920 semapv:UnspecifiedMatching -orphanet.ordo:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref UMLS:C1833136 semapv:UnspecifiedMatching -orphanet.ordo:2461 Marden-Walker syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2461 Marden-Walker syndrome oboInOwl:hasDbXref MESH:C535910 semapv:UnspecifiedMatching -orphanet.ordo:2461 Marden-Walker syndrome oboInOwl:hasDbXref MeSH:C535910 semapv:UnspecifiedMatching -orphanet.ordo:2461 Marden-Walker syndrome oboInOwl:hasDbXref OMIM:248700 semapv:UnspecifiedMatching -orphanet.ordo:2461 Marden-Walker syndrome oboInOwl:hasDbXref UMLS:C0796033 semapv:UnspecifiedMatching -orphanet.ordo:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref MESH:C537328 semapv:UnspecifiedMatching -orphanet.ordo:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref MeSH:C537328 semapv:UnspecifiedMatching -orphanet.ordo:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref OMIM:182212 semapv:UnspecifiedMatching -orphanet.ordo:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref UMLS:C1321551 semapv:UnspecifiedMatching -orphanet.ordo:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref OMIM:248770 semapv:UnspecifiedMatching -orphanet.ordo:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref OMIM:223330 semapv:UnspecifiedMatching -orphanet.ordo:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref UMLS:C1857227 semapv:UnspecifiedMatching -orphanet.ordo:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2466 MASA syndrome oboInOwl:hasDbXref MESH:C536029 semapv:UnspecifiedMatching -orphanet.ordo:2466 MASA syndrome oboInOwl:hasDbXref MeSH:C536029 semapv:UnspecifiedMatching -orphanet.ordo:2466 MASA syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching -orphanet.ordo:2466 MASA syndrome oboInOwl:hasDbXref UMLS:C0795953 semapv:UnspecifiedMatching -orphanet.ordo:2467 Systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching -orphanet.ordo:2467 Systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching -orphanet.ordo:2467 Systemic mastocytosis oboInOwl:hasDbXref MeSH:D034721 semapv:UnspecifiedMatching -orphanet.ordo:2467 Systemic mastocytosis oboInOwl:hasDbXref MedDRA:10042949 semapv:UnspecifiedMatching -orphanet.ordo:2467 Systemic mastocytosis oboInOwl:hasDbXref UMLS:C0221013 semapv:UnspecifiedMatching -orphanet.ordo:247 Arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref MESH:D019571 semapv:UnspecifiedMatching -orphanet.ordo:247 Arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref MeSH:D019571 semapv:UnspecifiedMatching -orphanet.ordo:247 Arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref MedDRA:10058093 semapv:UnspecifiedMatching -orphanet.ordo:247 Arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref UMLS:C0349788 semapv:UnspecifiedMatching -orphanet.ordo:2470 Matthew-Wood syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:2470 Matthew-Wood syndrome oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching -orphanet.ordo:2470 Matthew-Wood syndrome oboInOwl:hasDbXref OMIM:615524 semapv:UnspecifiedMatching -orphanet.ordo:2470 Matthew-Wood syndrome oboInOwl:hasDbXref UMLS:C1832661 semapv:UnspecifiedMatching -orphanet.ordo:2471 McDonough syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2471 McDonough syndrome oboInOwl:hasDbXref MESH:C538158 semapv:UnspecifiedMatching -orphanet.ordo:2471 McDonough syndrome oboInOwl:hasDbXref MeSH:C538158 semapv:UnspecifiedMatching -orphanet.ordo:2471 McDonough syndrome oboInOwl:hasDbXref OMIM:248950 semapv:UnspecifiedMatching -orphanet.ordo:2471 McDonough syndrome oboInOwl:hasDbXref UMLS:C0796038 semapv:UnspecifiedMatching -orphanet.ordo:247165 Infantile mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching -orphanet.ordo:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref OMIM:615851 semapv:UnspecifiedMatching -orphanet.ordo:247203 Collecting duct carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:247203 Collecting duct carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching -orphanet.ordo:247203 Collecting duct carcinoma oboInOwl:hasDbXref MeSH:D002292 semapv:UnspecifiedMatching -orphanet.ordo:247203 Collecting duct carcinoma oboInOwl:hasDbXref UMLS:C1266044 semapv:UnspecifiedMatching -orphanet.ordo:247234 Sporadic adult-onset ataxia of unknown etiology oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching -orphanet.ordo:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 semapv:UnspecifiedMatching -orphanet.ordo:247257 Inhalational anthrax oboInOwl:hasDbXref MedDRA:10035667 semapv:UnspecifiedMatching -orphanet.ordo:247257 Inhalational anthrax oboInOwl:hasDbXref UMLS:C0155866 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:239300 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:614207 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:614749 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615716 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616025 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616809 semapv:UnspecifiedMatching -orphanet.ordo:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855923 semapv:UnspecifiedMatching -orphanet.ordo:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:UnspecifiedMatching -orphanet.ordo:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MeSH:C538159 semapv:UnspecifiedMatching -orphanet.ordo:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MedDRA:10052312 semapv:UnspecifiedMatching -orphanet.ordo:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching -orphanet.ordo:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS:C0948368 semapv:UnspecifiedMatching -orphanet.ordo:247353 Generalized pustular psoriasis oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching -orphanet.ordo:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching -orphanet.ordo:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:616106 semapv:UnspecifiedMatching -orphanet.ordo:247353 Generalized pustular psoriasis oboInOwl:hasDbXref UMLS:C0343055 semapv:UnspecifiedMatching -orphanet.ordo:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:2475 White forelock with malformations oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2475 White forelock with malformations oboInOwl:hasDbXref MESH:C536700 semapv:UnspecifiedMatching -orphanet.ordo:2475 White forelock with malformations oboInOwl:hasDbXref MeSH:C536700 semapv:UnspecifiedMatching -orphanet.ordo:2475 White forelock with malformations oboInOwl:hasDbXref OMIM:277740 semapv:UnspecifiedMatching -orphanet.ordo:2475 White forelock with malformations oboInOwl:hasDbXref UMLS:C1848463 semapv:UnspecifiedMatching -orphanet.ordo:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:609820 semapv:UnspecifiedMatching -orphanet.ordo:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:611783 semapv:UnspecifiedMatching -orphanet.ordo:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching -orphanet.ordo:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300455 semapv:UnspecifiedMatching -orphanet.ordo:247525 Citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:247525 Citrullinemia type I oboInOwl:hasDbXref MedDRA:10058298 semapv:UnspecifiedMatching -orphanet.ordo:247525 Citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching -orphanet.ordo:247525 Citrullinemia type I oboInOwl:hasDbXref UMLS:C0751751 semapv:UnspecifiedMatching -orphanet.ordo:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:247573 Late-onset citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:247582 Citrin deficiency oboInOwl:hasDbXref UMLS:C1997910 semapv:UnspecifiedMatching -orphanet.ordo:247585 Citrullinemia type II oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:247585 Citrullinemia type II oboInOwl:hasDbXref OMIM:603471 semapv:UnspecifiedMatching -orphanet.ordo:247585 Citrullinemia type II oboInOwl:hasDbXref UMLS:C1863844 semapv:UnspecifiedMatching -orphanet.ordo:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref OMIM:605814 semapv:UnspecifiedMatching -orphanet.ordo:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref UMLS:C1853942 semapv:UnspecifiedMatching -orphanet.ordo:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching -orphanet.ordo:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref MESH:C536416 semapv:UnspecifiedMatching -orphanet.ordo:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref MeSH:C536416 semapv:UnspecifiedMatching -orphanet.ordo:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref OMIM:606353 semapv:UnspecifiedMatching -orphanet.ordo:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref UMLS:C1853396 semapv:UnspecifiedMatching -orphanet.ordo:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching -orphanet.ordo:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref UMLS:C2673477 semapv:UnspecifiedMatching -orphanet.ordo:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:247651 Infantile hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:247651 Infantile hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching -orphanet.ordo:247651 Infantile hypophosphatasia oboInOwl:hasDbXref UMLS:C0268412 semapv:UnspecifiedMatching -orphanet.ordo:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref OMIM:241510 semapv:UnspecifiedMatching -orphanet.ordo:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref UMLS:C0220743 semapv:UnspecifiedMatching -orphanet.ordo:247676 Adult hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:247676 Adult hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching -orphanet.ordo:247676 Adult hypophosphatasia oboInOwl:hasDbXref UMLS:C0268413 semapv:UnspecifiedMatching -orphanet.ordo:247685 Odontohypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:247685 Odontohypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching -orphanet.ordo:247685 Odontohypophosphatasia oboInOwl:hasDbXref UMLS:C1840322 semapv:UnspecifiedMatching -orphanet.ordo:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching -orphanet.ordo:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref OMIM:192315 semapv:UnspecifiedMatching -orphanet.ordo:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref UMLS:C1860518 semapv:UnspecifiedMatching -orphanet.ordo:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref MESH:D018813 semapv:UnspecifiedMatching -orphanet.ordo:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref MeSH:D018813 semapv:UnspecifiedMatching -orphanet.ordo:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching -orphanet.ordo:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref UMLS:C0025268 semapv:UnspecifiedMatching -orphanet.ordo:2477 Megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching -orphanet.ordo:2477 Megalencephaly oboInOwl:hasDbXref MedDRA:10050183 semapv:UnspecifiedMatching -orphanet.ordo:2477 Megalencephaly oboInOwl:hasDbXref OMIM:155350 semapv:UnspecifiedMatching -orphanet.ordo:2477 Megalencephaly oboInOwl:hasDbXref OMIM:248000 semapv:UnspecifiedMatching -orphanet.ordo:2477 Megalencephaly oboInOwl:hasDbXref UMLS:C2720434 semapv:UnspecifiedMatching -orphanet.ordo:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MESH:D018814 semapv:UnspecifiedMatching -orphanet.ordo:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MeSH:D018814 semapv:UnspecifiedMatching -orphanet.ordo:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MedDRA:10056420 semapv:UnspecifiedMatching -orphanet.ordo:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching -orphanet.ordo:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS:C0025269 semapv:UnspecifiedMatching -orphanet.ordo:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching -orphanet.ordo:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching -orphanet.ordo:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching -orphanet.ordo:247762 Lipoblastoma oboInOwl:hasDbXref UMLS:C1260965 semapv:UnspecifiedMatching -orphanet.ordo:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching -orphanet.ordo:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref OMIM:158330 semapv:UnspecifiedMatching -orphanet.ordo:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS:C2675014 semapv:UnspecifiedMatching -orphanet.ordo:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching -orphanet.ordo:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching -orphanet.ordo:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref UMLS:C0431648 semapv:UnspecifiedMatching -orphanet.ordo:247790 FTH1-related iron overload oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:247790 FTH1-related iron overload oboInOwl:hasDbXref OMIM:615517 semapv:UnspecifiedMatching -orphanet.ordo:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref OMIM:612018 semapv:UnspecifiedMatching -orphanet.ordo:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching -orphanet.ordo:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:604004 semapv:UnspecifiedMatching -orphanet.ordo:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:613925 semapv:UnspecifiedMatching -orphanet.ordo:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching -orphanet.ordo:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS:C1858854 semapv:UnspecifiedMatching -orphanet.ordo:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching -orphanet.ordo:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613573 semapv:UnspecifiedMatching -orphanet.ordo:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613576 semapv:UnspecifiedMatching -orphanet.ordo:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:247834 Occult macular dystrophy oboInOwl:hasDbXref OMIM:613587 semapv:UnspecifiedMatching -orphanet.ordo:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref OMIM:611762 semapv:UnspecifiedMatching -orphanet.ordo:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref UMLS:C2673198 semapv:UnspecifiedMatching -orphanet.ordo:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref OMIM:249310 semapv:UnspecifiedMatching -orphanet.ordo:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796086 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053360 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MeSH:D053360 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:618535 semapv:UnspecifiedMatching -orphanet.ordo:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0406702 semapv:UnspecifiedMatching -orphanet.ordo:248095 Primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010004 semapv:UnspecifiedMatching -orphanet.ordo:248095 Primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MeSH:D010004 semapv:UnspecifiedMatching -orphanet.ordo:248095 Primary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS:C0029411 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.4 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.7 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref MESH:C537387 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref MeSH:C537387 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref OMIM:249400 semapv:UnspecifiedMatching -orphanet.ordo:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref UMLS:C0544862 semapv:UnspecifiedMatching -orphanet.ordo:248111 Juvenile Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:248111 Juvenile Huntington disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching -orphanet.ordo:248111 Juvenile Huntington disease oboInOwl:hasDbXref UMLS:C0751208 semapv:UnspecifiedMatching -orphanet.ordo:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching -orphanet.ordo:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref MESH:C537238 semapv:UnspecifiedMatching -orphanet.ordo:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref MeSH:C537238 semapv:UnspecifiedMatching -orphanet.ordo:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref UMLS:C2931453 semapv:UnspecifiedMatching -orphanet.ordo:248293 Rare deficiency anemia oboInOwl:hasDbXref UMLS:C0041782 semapv:UnspecifiedMatching -orphanet.ordo:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref ICD10:G51.2 semapv:UnspecifiedMatching -orphanet.ordo:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MESH:D008556 semapv:UnspecifiedMatching -orphanet.ordo:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MeSH:D008556 semapv:UnspecifiedMatching -orphanet.ordo:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MedDRA:10027166 semapv:UnspecifiedMatching -orphanet.ordo:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref OMIM:155900 semapv:UnspecifiedMatching -orphanet.ordo:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref UMLS:C0025235 semapv:UnspecifiedMatching -orphanet.ordo:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:2484 Melnick-Needles syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:2484 Melnick-Needles syndrome oboInOwl:hasDbXref MedDRA:10060908 semapv:UnspecifiedMatching -orphanet.ordo:2484 Melnick-Needles syndrome oboInOwl:hasDbXref OMIM:309350 semapv:UnspecifiedMatching -orphanet.ordo:2484 Melnick-Needles syndrome oboInOwl:hasDbXref UMLS:C0025237 semapv:UnspecifiedMatching -orphanet.ordo:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching -orphanet.ordo:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref UMLS:C0272350 semapv:UnspecifiedMatching -orphanet.ordo:2485 Melorheostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:2485 Melorheostosis oboInOwl:hasDbXref MESH:D008557 semapv:UnspecifiedMatching -orphanet.ordo:2485 Melorheostosis oboInOwl:hasDbXref MeSH:D008557 semapv:UnspecifiedMatching -orphanet.ordo:2485 Melorheostosis oboInOwl:hasDbXref MedDRA:10050284 semapv:UnspecifiedMatching -orphanet.ordo:2485 Melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMatching -orphanet.ordo:2485 Melorheostosis oboInOwl:hasDbXref UMLS:C0025239 semapv:UnspecifiedMatching -orphanet.ordo:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref UMLS:C2930962 semapv:UnspecifiedMatching -orphanet.ordo:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref OMIM:274205 semapv:UnspecifiedMatching -orphanet.ordo:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref UMLS:C1848816 semapv:UnspecifiedMatching -orphanet.ordo:249 Fibrous dysplasia of bone oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching -orphanet.ordo:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MESH:D005357 semapv:UnspecifiedMatching -orphanet.ordo:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MeSH:D005357 semapv:UnspecifiedMatching -orphanet.ordo:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MedDRA:10016664 semapv:UnspecifiedMatching -orphanet.ordo:249 Fibrous dysplasia of bone oboInOwl:hasDbXref UMLS:C0016063 semapv:UnspecifiedMatching -orphanet.ordo:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref OMIM:146160 semapv:UnspecifiedMatching -orphanet.ordo:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C1840335 semapv:UnspecifiedMatching -orphanet.ordo:2492 FATCO syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2492 FATCO syndrome oboInOwl:hasDbXref UMLS:C2931047 semapv:UnspecifiedMatching -orphanet.ordo:2494 Ménétrier disease oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching -orphanet.ordo:2494 Ménétrier disease oboInOwl:hasDbXref MedDRA:10017807 semapv:UnspecifiedMatching -orphanet.ordo:2494 Ménétrier disease oboInOwl:hasDbXref MedDRA:10017868 semapv:UnspecifiedMatching -orphanet.ordo:2494 Ménétrier disease oboInOwl:hasDbXref OMIM:137280 semapv:UnspecifiedMatching -orphanet.ordo:2494 Ménétrier disease oboInOwl:hasDbXref UMLS:C0017155 semapv:UnspecifiedMatching -orphanet.ordo:2495 Meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching -orphanet.ordo:2495 Meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching -orphanet.ordo:2495 Meningioma oboInOwl:hasDbXref MeSH:D008579 semapv:UnspecifiedMatching -orphanet.ordo:2495 Meningioma oboInOwl:hasDbXref MedDRA:10027191 semapv:UnspecifiedMatching -orphanet.ordo:2495 Meningioma oboInOwl:hasDbXref OMIM:606190 semapv:UnspecifiedMatching -orphanet.ordo:2495 Meningioma oboInOwl:hasDbXref UMLS:C0025286 semapv:UnspecifiedMatching -orphanet.ordo:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref OMIM:600383 semapv:UnspecifiedMatching -orphanet.ordo:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref UMLS:C1838162 semapv:UnspecifiedMatching -orphanet.ordo:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref OMIM:191440 semapv:UnspecifiedMatching -orphanet.ordo:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref UMLS:C1860614 semapv:UnspecifiedMatching -orphanet.ordo:2498 Syndactyly type 8 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:2498 Syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching -orphanet.ordo:2498 Syndactyly type 8 oboInOwl:hasDbXref UMLS:C1839728 semapv:UnspecifiedMatching -orphanet.ordo:2499 Metachondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:2499 Metachondromatosis oboInOwl:hasDbXref OMIM:156250 semapv:UnspecifiedMatching -orphanet.ordo:2499 Metachondromatosis oboInOwl:hasDbXref UMLS:C0410530 semapv:UnspecifiedMatching -orphanet.ordo:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536833 semapv:UnspecifiedMatching -orphanet.ordo:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MeSH:C536833 semapv:UnspecifiedMatching -orphanet.ordo:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231670 semapv:UnspecifiedMatching -orphanet.ordo:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268595 semapv:UnspecifiedMatching -orphanet.ordo:250 Frontonasal dysplasia oboInOwl:hasDbXref MESH:C538065 semapv:UnspecifiedMatching -orphanet.ordo:250 Frontonasal dysplasia oboInOwl:hasDbXref MeSH:C538065 semapv:UnspecifiedMatching -orphanet.ordo:250 Frontonasal dysplasia oboInOwl:hasDbXref UMLS:C1876203 semapv:UnspecifiedMatching -orphanet.ordo:2500 Acrogeria oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching -orphanet.ordo:2500 Acrogeria oboInOwl:hasDbXref MESH:C538187 semapv:UnspecifiedMatching -orphanet.ordo:2500 Acrogeria oboInOwl:hasDbXref MeSH:C538187 semapv:UnspecifiedMatching -orphanet.ordo:2500 Acrogeria oboInOwl:hasDbXref OMIM:201200 semapv:UnspecifiedMatching -orphanet.ordo:2500 Acrogeria oboInOwl:hasDbXref UMLS:C0238590 semapv:UnspecifiedMatching -orphanet.ordo:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref MESH:C537353 semapv:UnspecifiedMatching -orphanet.ordo:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref MeSH:C537353 semapv:UnspecifiedMatching -orphanet.ordo:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref OMIM:250400 semapv:UnspecifiedMatching -orphanet.ordo:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref UMLS:C0432225 semapv:UnspecifiedMatching -orphanet.ordo:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref OMIM:250420 semapv:UnspecifiedMatching -orphanet.ordo:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref UMLS:C1855175 semapv:UnspecifiedMatching -orphanet.ordo:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching -orphanet.ordo:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref MESH:C537575 semapv:UnspecifiedMatching -orphanet.ordo:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref MeSH:C537575 semapv:UnspecifiedMatching -orphanet.ordo:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:156610 semapv:UnspecifiedMatching -orphanet.ordo:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:616734 semapv:UnspecifiedMatching -orphanet.ordo:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref UMLS:C0473586 semapv:UnspecifiedMatching -orphanet.ordo:2506 Michels syndrome oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching -orphanet.ordo:2506 Michels syndrome oboInOwl:hasDbXref UMLS:C0796059 semapv:UnspecifiedMatching -orphanet.ordo:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300004 semapv:UnspecifiedMatching -orphanet.ordo:250831 Logopenic progressive aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:250923 Isolated aniridia oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching -orphanet.ordo:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching -orphanet.ordo:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617141 semapv:UnspecifiedMatching -orphanet.ordo:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617142 semapv:UnspecifiedMatching -orphanet.ordo:250923 Isolated aniridia oboInOwl:hasDbXref UMLS:C0003076 semapv:UnspecifiedMatching -orphanet.ordo:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:250972 Polymicrogyria with optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:250972 Polymicrogyria with optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C2750798 semapv:UnspecifiedMatching -orphanet.ordo:250977 AICA-ribosiduria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:250977 AICA-ribosiduria oboInOwl:hasDbXref OMIM:608688 semapv:UnspecifiedMatching -orphanet.ordo:250977 AICA-ribosiduria oboInOwl:hasDbXref UMLS:C1837530 semapv:UnspecifiedMatching -orphanet.ordo:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:614134 semapv:UnspecifiedMatching -orphanet.ordo:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:614284 semapv:UnspecifiedMatching -orphanet.ordo:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:620022 semapv:UnspecifiedMatching -orphanet.ordo:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:612474 semapv:UnspecifiedMatching -orphanet.ordo:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2675897 semapv:UnspecifiedMatching -orphanet.ordo:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref OMIM:612475 semapv:UnspecifiedMatching -orphanet.ordo:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref UMLS:C2675891 semapv:UnspecifiedMatching -orphanet.ordo:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref OMIM:612530 semapv:UnspecifiedMatching -orphanet.ordo:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10028197 semapv:UnspecifiedMatching -orphanet.ordo:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C0026760 semapv:UnspecifiedMatching -orphanet.ordo:2510 Micro syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2510 Micro syndrome oboInOwl:hasDbXref OMIM:600118 semapv:UnspecifiedMatching -orphanet.ordo:2510 Micro syndrome oboInOwl:hasDbXref OMIM:614222 semapv:UnspecifiedMatching -orphanet.ordo:2510 Micro syndrome oboInOwl:hasDbXref OMIM:614225 semapv:UnspecifiedMatching -orphanet.ordo:2510 Micro syndrome oboInOwl:hasDbXref OMIM:615663 semapv:UnspecifiedMatching -orphanet.ordo:2510 Micro syndrome oboInOwl:hasDbXref UMLS:C1838625 semapv:UnspecifiedMatching -orphanet.ordo:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:251009 Maternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching -orphanet.ordo:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2676739 semapv:UnspecifiedMatching -orphanet.ordo:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching -orphanet.ordo:251038 3q29 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:251038 3q29 microduplication syndrome oboInOwl:hasDbXref OMIM:611936 semapv:UnspecifiedMatching -orphanet.ordo:251038 3q29 microduplication syndrome oboInOwl:hasDbXref UMLS:C2749873 semapv:UnspecifiedMatching -orphanet.ordo:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref OMIM:612863 semapv:UnspecifiedMatching -orphanet.ordo:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251066 8p11.2 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref OMIM:268850 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:251200 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:603802 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:604317 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:604321 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:604804 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:608393 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:608716 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:612703 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:614673 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:614852 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616051 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616080 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616402 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616486 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616681 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617090 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617800 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617914 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617983 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617984 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617985 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:618179 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:618351 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:619453 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:620183 semapv:UnspecifiedMatching -orphanet.ordo:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref UMLS:C3711387 semapv:UnspecifiedMatching -orphanet.ordo:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching -orphanet.ordo:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching -orphanet.ordo:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref UMLS:C3665488 semapv:UnspecifiedMatching -orphanet.ordo:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching -orphanet.ordo:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching -orphanet.ordo:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref OMIM:611040 semapv:UnspecifiedMatching -orphanet.ordo:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref UMLS:C1970236 semapv:UnspecifiedMatching -orphanet.ordo:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref OMIM:108600 semapv:UnspecifiedMatching -orphanet.ordo:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref UMLS:C1970107 semapv:UnspecifiedMatching -orphanet.ordo:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref OMIM:153870 semapv:UnspecifiedMatching -orphanet.ordo:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref UMLS:C1828210 semapv:UnspecifiedMatching -orphanet.ordo:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref OMIM:168550 semapv:UnspecifiedMatching -orphanet.ordo:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref UMLS:C1868597 semapv:UnspecifiedMatching -orphanet.ordo:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref OMIM:172870 semapv:UnspecifiedMatching -orphanet.ordo:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref UMLS:C1868310 semapv:UnspecifiedMatching -orphanet.ordo:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref MESH:C537322 semapv:UnspecifiedMatching -orphanet.ordo:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref MeSH:C537322 semapv:UnspecifiedMatching -orphanet.ordo:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref OMIM:203340 semapv:UnspecifiedMatching -orphanet.ordo:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref UMLS:C1859910 semapv:UnspecifiedMatching -orphanet.ordo:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching -orphanet.ordo:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref ICD10:I09.2 semapv:UnspecifiedMatching -orphanet.ordo:251312 Overlapping connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching -orphanet.ordo:251312 Overlapping connective tissue disease oboInOwl:hasDbXref MedDRA:10027754 semapv:UnspecifiedMatching -orphanet.ordo:251312 Overlapping connective tissue disease oboInOwl:hasDbXref UMLS:C1858556 semapv:UnspecifiedMatching -orphanet.ordo:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching -orphanet.ordo:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching -orphanet.ordo:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref ICD10:R65.2 semapv:UnspecifiedMatching -orphanet.ordo:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref OMIM:604391 semapv:UnspecifiedMatching -orphanet.ordo:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref UMLS:C1858391 semapv:UnspecifiedMatching -orphanet.ordo:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching -orphanet.ordo:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref MedDRA:10040655 semapv:UnspecifiedMatching -orphanet.ordo:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref MedDRA:10055579 semapv:UnspecifiedMatching -orphanet.ordo:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching -orphanet.ordo:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref MedDRA:10057072 semapv:UnspecifiedMatching -orphanet.ordo:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref UMLS:C0019034 semapv:UnspecifiedMatching -orphanet.ordo:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching -orphanet.ordo:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref MedDRA:10056724 semapv:UnspecifiedMatching -orphanet.ordo:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref UMLS:C0272084 semapv:UnspecifiedMatching -orphanet.ordo:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching -orphanet.ordo:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref UMLS:C0272085 semapv:UnspecifiedMatching -orphanet.ordo:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching -orphanet.ordo:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching -orphanet.ordo:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:142335 semapv:UnspecifiedMatching -orphanet.ordo:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:142470 semapv:UnspecifiedMatching -orphanet.ordo:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:305435 semapv:UnspecifiedMatching -orphanet.ordo:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:613566 semapv:UnspecifiedMatching -orphanet.ordo:251383 CK syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:251383 CK syndrome oboInOwl:hasDbXref OMIM:300831 semapv:UnspecifiedMatching -orphanet.ordo:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref MeSH:C537323 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:156580 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:616311 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:617520 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:619179 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:619180 semapv:UnspecifiedMatching -orphanet.ordo:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref UMLS:C0220693 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref MESH:C536711 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref MESH:C537324 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref MeSH:C536711 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref MeSH:C537324 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:251220 semapv:UnspecifiedMatching -orphanet.ordo:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C1855080 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:300018 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:615542 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:616067 semapv:UnspecifiedMatching -orphanet.ordo:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching -orphanet.ordo:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref OMIM:187370 semapv:UnspecifiedMatching -orphanet.ordo:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref UMLS:C1861238 semapv:UnspecifiedMatching -orphanet.ordo:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching -orphanet.ordo:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref OMIM:194470 semapv:UnspecifiedMatching -orphanet.ordo:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref UMLS:C1860229 semapv:UnspecifiedMatching -orphanet.ordo:251558 Rare tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C0206715 semapv:UnspecifiedMatching -orphanet.ordo:251576 Gliosarcoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251576 Gliosarcoma oboInOwl:hasDbXref MedDRA:10018340 semapv:UnspecifiedMatching -orphanet.ordo:251576 Gliosarcoma oboInOwl:hasDbXref UMLS:C0206726 semapv:UnspecifiedMatching -orphanet.ordo:251579 Giant cell glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251579 Giant cell glioblastoma oboInOwl:hasDbXref UMLS:C0334588 semapv:UnspecifiedMatching -orphanet.ordo:251582 Gliomatosis cerebri oboInOwl:hasDbXref ICD10:C71.0 semapv:UnspecifiedMatching -orphanet.ordo:251582 Gliomatosis cerebri oboInOwl:hasDbXref MedDRA:10066254 semapv:UnspecifiedMatching -orphanet.ordo:251582 Gliomatosis cerebri oboInOwl:hasDbXref UMLS:C0334576 semapv:UnspecifiedMatching -orphanet.ordo:251589 Anaplastic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251589 Anaplastic astrocytoma oboInOwl:hasDbXref MedDRA:10002224 semapv:UnspecifiedMatching -orphanet.ordo:251589 Anaplastic astrocytoma oboInOwl:hasDbXref MedDRA:10060971 semapv:UnspecifiedMatching -orphanet.ordo:251589 Anaplastic astrocytoma oboInOwl:hasDbXref UMLS:C0334579 semapv:UnspecifiedMatching -orphanet.ordo:251592 Low-grade astrocytoma oboInOwl:hasDbXref MedDRA:10065869 semapv:UnspecifiedMatching -orphanet.ordo:251592 Low-grade astrocytoma oboInOwl:hasDbXref UMLS:C1314694 semapv:UnspecifiedMatching -orphanet.ordo:251595 Diffuse astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251595 Diffuse astrocytoma oboInOwl:hasDbXref UMLS:C0280785 semapv:UnspecifiedMatching -orphanet.ordo:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref UMLS:C0334580 semapv:UnspecifiedMatching -orphanet.ordo:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref OMIM:601355 semapv:UnspecifiedMatching -orphanet.ordo:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref UMLS:C2931129 semapv:UnspecifiedMatching -orphanet.ordo:251601 Fibrillary astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251601 Fibrillary astrocytoma oboInOwl:hasDbXref MedDRA:10065889 semapv:UnspecifiedMatching -orphanet.ordo:251601 Fibrillary astrocytoma oboInOwl:hasDbXref UMLS:C0334582 semapv:UnspecifiedMatching -orphanet.ordo:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334581 semapv:UnspecifiedMatching -orphanet.ordo:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS:C0334586 semapv:UnspecifiedMatching -orphanet.ordo:251612 Pilocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251612 Pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334583 semapv:UnspecifiedMatching -orphanet.ordo:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref UMLS:C1519086 semapv:UnspecifiedMatching -orphanet.ordo:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching -orphanet.ordo:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS:C0205768 semapv:UnspecifiedMatching -orphanet.ordo:251623 Pituicytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251623 Pituicytoma oboInOwl:hasDbXref UMLS:C2986550 semapv:UnspecifiedMatching -orphanet.ordo:251627 Oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251627 Oligodendroglioma oboInOwl:hasDbXref MedDRA:10030286 semapv:UnspecifiedMatching -orphanet.ordo:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -orphanet.ordo:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching -orphanet.ordo:251627 Oligodendroglioma oboInOwl:hasDbXref UMLS:C0028945 semapv:UnspecifiedMatching -orphanet.ordo:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref MedDRA:10026659 semapv:UnspecifiedMatching -orphanet.ordo:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -orphanet.ordo:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching -orphanet.ordo:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref UMLS:C0334590 semapv:UnspecifiedMatching -orphanet.ordo:251636 Ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching -orphanet.ordo:251636 Ependymoma oboInOwl:hasDbXref MedDRA:10014967 semapv:UnspecifiedMatching -orphanet.ordo:251636 Ependymoma oboInOwl:hasDbXref UMLS:C0014474 semapv:UnspecifiedMatching -orphanet.ordo:251639 Subependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching -orphanet.ordo:251639 Subependymoma oboInOwl:hasDbXref UMLS:C0206725 semapv:UnspecifiedMatching -orphanet.ordo:251643 Myxopapillary ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching -orphanet.ordo:251643 Myxopapillary ependymoma oboInOwl:hasDbXref UMLS:C0205769 semapv:UnspecifiedMatching -orphanet.ordo:251646 Anaplastic ependymoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251646 Anaplastic ependymoma oboInOwl:hasDbXref MedDRA:10014968 semapv:UnspecifiedMatching -orphanet.ordo:251646 Anaplastic ependymoma oboInOwl:hasDbXref UMLS:C0280788 semapv:UnspecifiedMatching -orphanet.ordo:251651 Oligoastrocytic tumor oboInOwl:hasDbXref UMLS:C0280793 semapv:UnspecifiedMatching -orphanet.ordo:251656 Oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251656 Oligoastrocytoma oboInOwl:hasDbXref MedDRA:10027744 semapv:UnspecifiedMatching -orphanet.ordo:251656 Oligoastrocytoma oboInOwl:hasDbXref UMLS:C0280793 semapv:UnspecifiedMatching -orphanet.ordo:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref UMLS:C0431108 semapv:UnspecifiedMatching -orphanet.ordo:251671 Angiocentric glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251671 Angiocentric glioma oboInOwl:hasDbXref UMLS:C2363903 semapv:UnspecifiedMatching -orphanet.ordo:251674 Chordoid glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251679 Astroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251679 Astroblastoma oboInOwl:hasDbXref UMLS:C0334587 semapv:UnspecifiedMatching -orphanet.ordo:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:251270 semapv:UnspecifiedMatching -orphanet.ordo:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:616335 semapv:UnspecifiedMatching -orphanet.ordo:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3502492 semapv:UnspecifiedMatching -orphanet.ordo:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching -orphanet.ordo:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching -orphanet.ordo:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching -orphanet.ordo:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching -orphanet.ordo:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching -orphanet.ordo:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS:C0751291 semapv:UnspecifiedMatching -orphanet.ordo:251867 Classic medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching -orphanet.ordo:251867 Classic medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching -orphanet.ordo:251870 Central nervous system embryonal tumor oboInOwl:hasDbXref MedDRA:10057846 semapv:UnspecifiedMatching -orphanet.ordo:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MedDRA:10017708 semapv:UnspecifiedMatching -orphanet.ordo:251877 Ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C0206718 semapv:UnspecifiedMatching -orphanet.ordo:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:251880 Ependymoblastoma oboInOwl:hasDbXref MedDRA:10014966 semapv:UnspecifiedMatching -orphanet.ordo:251880 Ependymoblastoma oboInOwl:hasDbXref UMLS:C0700367 semapv:UnspecifiedMatching -orphanet.ordo:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -orphanet.ordo:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref UMLS:C0334596 semapv:UnspecifiedMatching -orphanet.ordo:251896 Choroid plexus tumor oboInOwl:hasDbXref UMLS:C0085138 semapv:UnspecifiedMatching -orphanet.ordo:251899 Choroid plexus carcinoma oboInOwl:hasDbXref ICD10:C71.7 semapv:UnspecifiedMatching -orphanet.ordo:251899 Choroid plexus carcinoma oboInOwl:hasDbXref MedDRA:10067478 semapv:UnspecifiedMatching -orphanet.ordo:251899 Choroid plexus carcinoma oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching -orphanet.ordo:251899 Choroid plexus carcinoma oboInOwl:hasDbXref UMLS:C0431109 semapv:UnspecifiedMatching -orphanet.ordo:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref MESH:C537544 semapv:UnspecifiedMatching -orphanet.ordo:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref MeSH:C537544 semapv:UnspecifiedMatching -orphanet.ordo:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref UMLS:C2931529 semapv:UnspecifiedMatching -orphanet.ordo:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching -orphanet.ordo:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C1266176 semapv:UnspecifiedMatching -orphanet.ordo:251909 Pineoblastoma oboInOwl:hasDbXref ICD10:C75.3 semapv:UnspecifiedMatching -orphanet.ordo:251909 Pineoblastoma oboInOwl:hasDbXref MedDRA:10050487 semapv:UnspecifiedMatching -orphanet.ordo:251909 Pineoblastoma oboInOwl:hasDbXref UMLS:C0205898 semapv:UnspecifiedMatching -orphanet.ordo:251912 Pineocytoma oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching -orphanet.ordo:251912 Pineocytoma oboInOwl:hasDbXref MedDRA:10035059 semapv:UnspecifiedMatching -orphanet.ordo:251912 Pineocytoma oboInOwl:hasDbXref UMLS:C0917890 semapv:UnspecifiedMatching -orphanet.ordo:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching -orphanet.ordo:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref UMLS:C2985219 semapv:UnspecifiedMatching -orphanet.ordo:251919 Pineal parenchymal tumor of intermediate differenciation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching -orphanet.ordo:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -orphanet.ordo:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching -orphanet.ordo:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref UMLS:C1370507 semapv:UnspecifiedMatching -orphanet.ordo:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching -orphanet.ordo:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching -orphanet.ordo:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref UMLS:C1266177 semapv:UnspecifiedMatching -orphanet.ordo:251949 Ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching -orphanet.ordo:251949 Ganglioglioma oboInOwl:hasDbXref MedDRA:10017701 semapv:UnspecifiedMatching -orphanet.ordo:251949 Ganglioglioma oboInOwl:hasDbXref UMLS:C0206716 semapv:UnspecifiedMatching -orphanet.ordo:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching -orphanet.ordo:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref UMLS:C0431112 semapv:UnspecifiedMatching -orphanet.ordo:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching -orphanet.ordo:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref UMLS:C2985174 semapv:UnspecifiedMatching -orphanet.ordo:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching -orphanet.ordo:251992 Ganglioneuroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:251992 Ganglioneuroma oboInOwl:hasDbXref MedDRA:10017709 semapv:UnspecifiedMatching -orphanet.ordo:251992 Ganglioneuroma oboInOwl:hasDbXref UMLS:C0017075 semapv:UnspecifiedMatching -orphanet.ordo:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -orphanet.ordo:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching -orphanet.ordo:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching -orphanet.ordo:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -orphanet.ordo:252025 Tumor of meninges oboInOwl:hasDbXref MedDRA:10061282 semapv:UnspecifiedMatching -orphanet.ordo:252025 Tumor of meninges oboInOwl:hasDbXref UMLS:C0025284 semapv:UnspecifiedMatching -orphanet.ordo:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching -orphanet.ordo:252046 Meningeal melanocytoma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching -orphanet.ordo:252046 Meningeal melanocytoma oboInOwl:hasDbXref UMLS:C1266113 semapv:UnspecifiedMatching -orphanet.ordo:252050 Primary melanoma of the central nervous system oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching -orphanet.ordo:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.4 semapv:UnspecifiedMatching -orphanet.ordo:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.7 semapv:UnspecifiedMatching -orphanet.ordo:252054 Hemangioblastoma oboInOwl:hasDbXref MedDRA:10018813 semapv:UnspecifiedMatching -orphanet.ordo:252054 Hemangioblastoma oboInOwl:hasDbXref UMLS:C0206734 semapv:UnspecifiedMatching -orphanet.ordo:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome oboInOwl:hasDbXref UMLS:C2930954 semapv:UnspecifiedMatching -orphanet.ordo:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching -orphanet.ordo:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref UMLS:C1266188 semapv:UnspecifiedMatching -orphanet.ordo:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:252164 Benign schwannoma oboInOwl:hasDbXref MedDRA:10029234 semapv:UnspecifiedMatching -orphanet.ordo:252164 Benign schwannoma oboInOwl:hasDbXref MedDRA:10029235 semapv:UnspecifiedMatching -orphanet.ordo:252164 Benign schwannoma oboInOwl:hasDbXref UMLS:C0027809 semapv:UnspecifiedMatching -orphanet.ordo:252175 Vestibular schwannoma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching -orphanet.ordo:252175 Vestibular schwannoma oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching -orphanet.ordo:252175 Vestibular schwannoma oboInOwl:hasDbXref UMLS:C0027859 semapv:UnspecifiedMatching -orphanet.ordo:252183 Neurofibroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:252183 Neurofibroma oboInOwl:hasDbXref MedDRA:10029267 semapv:UnspecifiedMatching -orphanet.ordo:252183 Neurofibroma oboInOwl:hasDbXref UMLS:C0027830 semapv:UnspecifiedMatching -orphanet.ordo:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref MESH:C537325 semapv:UnspecifiedMatching -orphanet.ordo:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref MeSH:C537325 semapv:UnspecifiedMatching -orphanet.ordo:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref OMIM:251250 semapv:UnspecifiedMatching -orphanet.ordo:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref UMLS:C0796066 semapv:UnspecifiedMatching -orphanet.ordo:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching -orphanet.ordo:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:276300 semapv:UnspecifiedMatching -orphanet.ordo:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619096 semapv:UnspecifiedMatching -orphanet.ordo:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619097 semapv:UnspecifiedMatching -orphanet.ordo:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619101 semapv:UnspecifiedMatching -orphanet.ordo:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref ICD10:D43 semapv:UnspecifiedMatching -orphanet.ordo:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref OMIM:155755 semapv:UnspecifiedMatching -orphanet.ordo:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS:C1835042 semapv:UnspecifiedMatching -orphanet.ordo:252212 Malignant triton tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching -orphanet.ordo:252212 Malignant triton tumor oboInOwl:hasDbXref UMLS:C0334616 semapv:UnspecifiedMatching -orphanet.ordo:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref MESH:C548070 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref MeSH:C548070 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:277470 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:612389 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:612390 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:613811 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:617026 semapv:UnspecifiedMatching -orphanet.ordo:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref UMLS:C2932714 semapv:UnspecifiedMatching -orphanet.ordo:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref MESH:C537711 semapv:UnspecifiedMatching -orphanet.ordo:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref MeSH:C537711 semapv:UnspecifiedMatching -orphanet.ordo:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref OMIM:152950 semapv:UnspecifiedMatching -orphanet.ordo:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref UMLS:C1835265 semapv:UnspecifiedMatching -orphanet.ordo:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref MESH:C537536 semapv:UnspecifiedMatching -orphanet.ordo:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref MESH:C537539 semapv:UnspecifiedMatching -orphanet.ordo:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref MeSH:C537536 semapv:UnspecifiedMatching -orphanet.ordo:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref MeSH:C537539 semapv:UnspecifiedMatching -orphanet.ordo:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref UMLS:C2931524 semapv:UnspecifiedMatching -orphanet.ordo:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref MedDRA:10062920 semapv:UnspecifiedMatching -orphanet.ordo:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0038015 semapv:UnspecifiedMatching -orphanet.ordo:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:156620 semapv:UnspecifiedMatching -orphanet.ordo:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796062 semapv:UnspecifiedMatching -orphanet.ordo:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref MESH:C537552 semapv:UnspecifiedMatching -orphanet.ordo:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref MeSH:C537552 semapv:UnspecifiedMatching -orphanet.ordo:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref OMIM:156700 semapv:UnspecifiedMatching -orphanet.ordo:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref UMLS:C1834935 semapv:UnspecifiedMatching -orphanet.ordo:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref MESH:C537554 semapv:UnspecifiedMatching -orphanet.ordo:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref MeSH:C537554 semapv:UnspecifiedMatching -orphanet.ordo:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref OMIM:156810 semapv:UnspecifiedMatching -orphanet.ordo:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref UMLS:C1834929 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:156850 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:251600 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:610093 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:611038 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:613094 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:613704 semapv:UnspecifiedMatching -orphanet.ordo:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:615113 semapv:UnspecifiedMatching -orphanet.ordo:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:613641 semapv:UnspecifiedMatching -orphanet.ordo:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref OMIM:613672 semapv:UnspecifiedMatching -orphanet.ordo:254346 19p13.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref OMIM:613729 semapv:UnspecifiedMatching -orphanet.ordo:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref OMIM:613723 semapv:UnspecifiedMatching -orphanet.ordo:254367 Rare lichen planus oboInOwl:hasDbXref UMLS:C0023646 semapv:UnspecifiedMatching -orphanet.ordo:254379 Linear lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254379 Linear lichen planus oboInOwl:hasDbXref UMLS:C0023650 semapv:UnspecifiedMatching -orphanet.ordo:254395 Actinic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254395 Actinic lichen planus oboInOwl:hasDbXref UMLS:C0406365 semapv:UnspecifiedMatching -orphanet.ordo:254411 Annular atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254424 Annular lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254424 Annular lichen planus oboInOwl:hasDbXref UMLS:C0406363 semapv:UnspecifiedMatching -orphanet.ordo:254449 Atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254449 Atrophic lichen planus oboInOwl:hasDbXref MedDRA:10056959 semapv:UnspecifiedMatching -orphanet.ordo:254449 Atrophic lichen planus oboInOwl:hasDbXref UMLS:C0023647 semapv:UnspecifiedMatching -orphanet.ordo:254463 Lichen planus pigmentosus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254463 Lichen planus pigmentosus oboInOwl:hasDbXref UMLS:C0406366 semapv:UnspecifiedMatching -orphanet.ordo:254478 Lichen planus pemphigoides oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:254478 Lichen planus pemphigoides oboInOwl:hasDbXref UMLS:C0406369 semapv:UnspecifiedMatching -orphanet.ordo:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching -orphanet.ordo:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref UMLS:C1274700 semapv:UnspecifiedMatching -orphanet.ordo:254504 Inhalational botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:254504 Inhalational botulism oboInOwl:hasDbXref UMLS:C1443900 semapv:UnspecifiedMatching -orphanet.ordo:254509 Iatrogenic botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching -orphanet.ordo:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8, semapv:UnspecifiedMatching -orphanet.ordo:254516 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching -orphanet.ordo:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching -orphanet.ordo:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching -orphanet.ordo:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching -orphanet.ordo:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching -orphanet.ordo:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching -orphanet.ordo:254685 Gestational trophoblastic disease oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching -orphanet.ordo:254688 Complete hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching -orphanet.ordo:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching -orphanet.ordo:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching -orphanet.ordo:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:618431 semapv:UnspecifiedMatching -orphanet.ordo:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:618432 semapv:UnspecifiedMatching -orphanet.ordo:254688 Complete hydatidiform mole oboInOwl:hasDbXref UMLS:C0678213 semapv:UnspecifiedMatching -orphanet.ordo:254693 Partial hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching -orphanet.ordo:254693 Partial hydatidiform mole oboInOwl:hasDbXref UMLS:C0334529 semapv:UnspecifiedMatching -orphanet.ordo:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching -orphanet.ordo:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS:C1266159 semapv:UnspecifiedMatching -orphanet.ordo:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref UMLS:C2931224 semapv:UnspecifiedMatching -orphanet.ordo:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref ICD10:R77.8 semapv:UnspecifiedMatching -orphanet.ordo:254707 Faisalabad histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:254712 Familial sinus histiocytosis with massive lymphadenopathy oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching -orphanet.ordo:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching -orphanet.ordo:254818 Ataxia neuropathy spectrum oboInOwl:hasDbXref UMLS:C3683791 semapv:UnspecifiedMatching -orphanet.ordo:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref OMIM:551000 semapv:UnspecifiedMatching -orphanet.ordo:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C1838876 semapv:UnspecifiedMatching -orphanet.ordo:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:500009 semapv:UnspecifiedMatching -orphanet.ordo:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form oboInOwl:hasDbXref UMLS:C3711385 semapv:UnspecifiedMatching -orphanet.ordo:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:609560 semapv:UnspecifiedMatching -orphanet.ordo:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:618972 semapv:UnspecifiedMatching -orphanet.ordo:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref UMLS:C3501891 semapv:UnspecifiedMatching -orphanet.ordo:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching -orphanet.ordo:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref UMLS:C1843852 semapv:UnspecifiedMatching -orphanet.ordo:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching -orphanet.ordo:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:258450 semapv:UnspecifiedMatching -orphanet.ordo:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:617069 semapv:UnspecifiedMatching -orphanet.ordo:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850303 semapv:UnspecifiedMatching -orphanet.ordo:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching -orphanet.ordo:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:157640 semapv:UnspecifiedMatching -orphanet.ordo:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609283 semapv:UnspecifiedMatching -orphanet.ordo:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609286 semapv:UnspecifiedMatching -orphanet.ordo:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:610131 semapv:UnspecifiedMatching -orphanet.ordo:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:613077 semapv:UnspecifiedMatching -orphanet.ordo:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref OMIM:614651 semapv:UnspecifiedMatching -orphanet.ordo:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref OMIM:141400 semapv:UnspecifiedMatching -orphanet.ordo:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref UMLS:C0220681 semapv:UnspecifiedMatching -orphanet.ordo:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:220110 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619046 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619048 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619051 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619052 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619053 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619054 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619055 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619058 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619059 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619060 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619061 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619062 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619063 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619064 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619355 semapv:UnspecifiedMatching -orphanet.ordo:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C0268237 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:604273 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:614053 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:615228 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:616045 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618120 semapv:UnspecifiedMatching -orphanet.ordo:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618683 semapv:UnspecifiedMatching -orphanet.ordo:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref OMIM:610498 semapv:UnspecifiedMatching -orphanet.ordo:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref UMLS:C1864843 semapv:UnspecifiedMatching -orphanet.ordo:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref OMIM:610678 semapv:UnspecifiedMatching -orphanet.ordo:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref UMLS:C1857682 semapv:UnspecifiedMatching -orphanet.ordo:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref OMIM:613559 semapv:UnspecifiedMatching -orphanet.ordo:255 Dopa-responsive dystonia oboInOwl:hasDbXref MESH:C538007 semapv:UnspecifiedMatching -orphanet.ordo:255 Dopa-responsive dystonia oboInOwl:hasDbXref MeSH:C538007 semapv:UnspecifiedMatching -orphanet.ordo:255 Dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C1851920 semapv:UnspecifiedMatching -orphanet.ordo:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:157151 semapv:UnspecifiedMatching -orphanet.ordo:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1834880 semapv:UnspecifiedMatching -orphanet.ordo:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:616860 semapv:UnspecifiedMatching -orphanet.ordo:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref UMLS:C2673914 semapv:UnspecifiedMatching -orphanet.ordo:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching -orphanet.ordo:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref UMLS:C3279841 semapv:UnspecifiedMatching -orphanet.ordo:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching -orphanet.ordo:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref UMLS:C1855553 semapv:UnspecifiedMatching -orphanet.ordo:2552 Microsporidiosis oboInOwl:hasDbXref ICD10:B60.8 semapv:UnspecifiedMatching -orphanet.ordo:2552 Microsporidiosis oboInOwl:hasDbXref MESH:D016881 semapv:UnspecifiedMatching -orphanet.ordo:2552 Microsporidiosis oboInOwl:hasDbXref MeSH:D016881 semapv:UnspecifiedMatching -orphanet.ordo:2552 Microsporidiosis oboInOwl:hasDbXref MedDRA:10053982 semapv:UnspecifiedMatching -orphanet.ordo:2552 Microsporidiosis oboInOwl:hasDbXref UMLS:C0085407 semapv:UnspecifiedMatching -orphanet.ordo:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching -orphanet.ordo:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref UMLS:C2931092 semapv:UnspecifiedMatching -orphanet.ordo:255229 Navajo neurohepatopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:255229 Navajo neurohepatopathy oboInOwl:hasDbXref OMIM:256810 semapv:UnspecifiedMatching -orphanet.ordo:255229 Navajo neurohepatopathy oboInOwl:hasDbXref UMLS:C1850406 semapv:UnspecifiedMatching -orphanet.ordo:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:616277 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618222 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618224 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618225 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618226 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618229 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618230 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618233 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618235 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618239 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618240 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618241 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618243 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618244 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618248 semapv:UnspecifiedMatching -orphanet.ordo:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618249 semapv:UnspecifiedMatching -orphanet.ordo:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:607426 semapv:UnspecifiedMatching -orphanet.ordo:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:614652 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MESH:C538012 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MeSH:C538012 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MedDRA:10070612 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:224690 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613800 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613803 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613804 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613805 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:616835 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:617063 semapv:UnspecifiedMatching -orphanet.ordo:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref UMLS:C1868684 semapv:UnspecifiedMatching -orphanet.ordo:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:300887 semapv:UnspecifiedMatching -orphanet.ordo:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:300952 semapv:UnspecifiedMatching -orphanet.ordo:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:309801 semapv:UnspecifiedMatching -orphanet.ordo:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref UMLS:C0796070 semapv:UnspecifiedMatching -orphanet.ordo:2557 Mietens syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2557 Mietens syndrome oboInOwl:hasDbXref OMIM:249600 semapv:UnspecifiedMatching -orphanet.ordo:2557 Mietens syndrome oboInOwl:hasDbXref UMLS:C0265249 semapv:UnspecifiedMatching -orphanet.ordo:2558 Mikati-Najjar-Sahli syndrome oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching -orphanet.ordo:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM:128100 semapv:UnspecifiedMatching -orphanet.ordo:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM:602554 semapv:UnspecifiedMatching -orphanet.ordo:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref UMLS:C0013423 semapv:UnspecifiedMatching -orphanet.ordo:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931024 semapv:UnspecifiedMatching -orphanet.ordo:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching -orphanet.ordo:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref MESH:C538170 semapv:UnspecifiedMatching -orphanet.ordo:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref MeSH:C538170 semapv:UnspecifiedMatching -orphanet.ordo:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref OMIM:200970 semapv:UnspecifiedMatching -orphanet.ordo:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref UMLS:C1860167 semapv:UnspecifiedMatching -orphanet.ordo:2563 MOMO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:2563 MOMO syndrome oboInOwl:hasDbXref OMIM:157980 semapv:UnspecifiedMatching -orphanet.ordo:2563 MOMO syndrome oboInOwl:hasDbXref UMLS:C1834759 semapv:UnspecifiedMatching -orphanet.ordo:2564 Tetramelic monodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:2564 Tetramelic monodactyly oboInOwl:hasDbXref OMIM:187510 semapv:UnspecifiedMatching -orphanet.ordo:2564 Tetramelic monodactyly oboInOwl:hasDbXref UMLS:C1861233 semapv:UnspecifiedMatching -orphanet.ordo:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref MESH:C535914 semapv:UnspecifiedMatching -orphanet.ordo:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref MeSH:C535914 semapv:UnspecifiedMatching -orphanet.ordo:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref OMIM:301940 semapv:UnspecifiedMatching -orphanet.ordo:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS:C2931060 semapv:UnspecifiedMatching -orphanet.ordo:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref ICD10:B27.0 semapv:UnspecifiedMatching -orphanet.ordo:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref OMIM:226990 semapv:UnspecifiedMatching -orphanet.ordo:2569 Moore-Federman syndrome oboInOwl:hasDbXref OMIM:127200 semapv:UnspecifiedMatching -orphanet.ordo:2569 Moore-Federman syndrome oboInOwl:hasDbXref UMLS:C0265349 semapv:UnspecifiedMatching -orphanet.ordo:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref OMIM:226670 semapv:UnspecifiedMatching -orphanet.ordo:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref UMLS:C2931072 semapv:UnspecifiedMatching -orphanet.ordo:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref OMIM:306990 semapv:UnspecifiedMatching -orphanet.ordo:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref UMLS:C1844016 semapv:UnspecifiedMatching -orphanet.ordo:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref OMIM:300076 semapv:UnspecifiedMatching -orphanet.ordo:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref UMLS:C1848144 semapv:UnspecifiedMatching -orphanet.ordo:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:271320 semapv:UnspecifiedMatching -orphanet.ordo:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1849085 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref MESH:C536991 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref MESH:D009072 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref MeSH:C536991 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref MeSH:D009072 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref MedDRA:10028047 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:252350 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:607151 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:608796 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:614042 semapv:UnspecifiedMatching -orphanet.ordo:2573 Moyamoya disease oboInOwl:hasDbXref UMLS:C0026654 semapv:UnspecifiedMatching -orphanet.ordo:2574 Moynahan syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:2574 Moynahan syndrome oboInOwl:hasDbXref OMIM:203600 semapv:UnspecifiedMatching -orphanet.ordo:2574 Moynahan syndrome oboInOwl:hasDbXref UMLS:C0265328 semapv:UnspecifiedMatching -orphanet.ordo:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching -orphanet.ordo:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:219721 semapv:UnspecifiedMatching -orphanet.ordo:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C2931402 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref MESH:C538604 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref MESH:D050336 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref MeSH:C538604 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref MeSH:D050336 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref OMIM:253250 semapv:UnspecifiedMatching -orphanet.ordo:2576 Mulibrey nanism oboInOwl:hasDbXref UMLS:C0524582 semapv:UnspecifiedMatching -orphanet.ordo:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching -orphanet.ordo:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref UMLS:C1832817 semapv:UnspecifiedMatching -orphanet.ordo:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref MESH:C538193 semapv:UnspecifiedMatching -orphanet.ordo:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref MeSH:C538193 semapv:UnspecifiedMatching -orphanet.ordo:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref OMIM:158500 semapv:UnspecifiedMatching -orphanet.ordo:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C2931765 semapv:UnspecifiedMatching -orphanet.ordo:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:607855 semapv:UnspecifiedMatching -orphanet.ordo:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:618138 semapv:UnspecifiedMatching -orphanet.ordo:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1263858 semapv:UnspecifiedMatching -orphanet.ordo:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MESH:D016603 semapv:UnspecifiedMatching -orphanet.ordo:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MeSH:D016603 semapv:UnspecifiedMatching -orphanet.ordo:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MedDRA:10014952 semapv:UnspecifiedMatching -orphanet.ordo:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref UMLS:C1275050 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.1 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.9 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref MESH:D008271 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref MeSH:D008271 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref MedDRA:10028427 semapv:UnspecifiedMatching -orphanet.ordo:2583 Mycetoma oboInOwl:hasDbXref UMLS:C0024449 semapv:UnspecifiedMatching -orphanet.ordo:2584 Classic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching -orphanet.ordo:2584 Classic mycosis fungoides oboInOwl:hasDbXref OMIM:254400 semapv:UnspecifiedMatching -orphanet.ordo:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref OMIM:159550 semapv:UnspecifiedMatching -orphanet.ordo:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref UMLS:C1327919 semapv:UnspecifiedMatching -orphanet.ordo:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching -orphanet.ordo:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref OMIM:254600 semapv:UnspecifiedMatching -orphanet.ordo:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref UMLS:C0398595 semapv:UnspecifiedMatching -orphanet.ordo:2588 Myhre syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2588 Myhre syndrome oboInOwl:hasDbXref OMIM:139210 semapv:UnspecifiedMatching -orphanet.ordo:2588 Myhre syndrome oboInOwl:hasDbXref UMLS:C0796081 semapv:UnspecifiedMatching -orphanet.ordo:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:159800 semapv:UnspecifiedMatching -orphanet.ordo:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C1834579 semapv:UnspecifiedMatching -orphanet.ordo:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching -orphanet.ordo:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref OMIM:159950 semapv:UnspecifiedMatching -orphanet.ordo:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref UMLS:C1834569 semapv:UnspecifiedMatching -orphanet.ordo:2591 Infantile myofibromatosis oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -orphanet.ordo:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:228550 semapv:UnspecifiedMatching -orphanet.ordo:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:615293 semapv:UnspecifiedMatching -orphanet.ordo:2591 Infantile myofibromatosis oboInOwl:hasDbXref UMLS:C0432284 semapv:UnspecifiedMatching -orphanet.ordo:2593 Tubular aggregate myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:160565 semapv:UnspecifiedMatching -orphanet.ordo:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:615883 semapv:UnspecifiedMatching -orphanet.ordo:2593 Tubular aggregate myopathy oboInOwl:hasDbXref UMLS:C0410207 semapv:UnspecifiedMatching -orphanet.ordo:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref OMIM:500002 semapv:UnspecifiedMatching -orphanet.ordo:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref UMLS:C1839028 semapv:UnspecifiedMatching -orphanet.ordo:25968 Benign occipital epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:25968 Benign occipital epilepsy oboInOwl:hasDbXref OMIM:132090 semapv:UnspecifiedMatching -orphanet.ordo:25968 Benign occipital epilepsy oboInOwl:hasDbXref UMLS:C1851549 semapv:UnspecifiedMatching -orphanet.ordo:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref MESH:C537476 semapv:UnspecifiedMatching -orphanet.ordo:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref MeSH:C537476 semapv:UnspecifiedMatching -orphanet.ordo:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref OMIM:251950 semapv:UnspecifiedMatching -orphanet.ordo:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref UMLS:C1855033 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref MESH:C536101 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref MeSH:C536101 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:500011 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:600462 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:613561 semapv:UnspecifiedMatching -orphanet.ordo:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref UMLS:C1838103 semapv:UnspecifiedMatching -orphanet.ordo:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref OMIM:310440 semapv:UnspecifiedMatching -orphanet.ordo:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref UMLS:C1839615 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref MESH:C537359 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref MeSH:C537359 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:614857 semapv:UnspecifiedMatching -orphanet.ordo:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref UMLS:C1848561 semapv:UnspecifiedMatching -orphanet.ordo:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:205950 semapv:UnspecifiedMatching -orphanet.ordo:2604 Familial visceral myopathy oboInOwl:hasDbXref ICD10:K56.0 semapv:UnspecifiedMatching -orphanet.ordo:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:155310 semapv:UnspecifiedMatching -orphanet.ordo:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:619350 semapv:UnspecifiedMatching -orphanet.ordo:2604 Familial visceral myopathy oboInOwl:hasDbXref UMLS:C0266833 semapv:UnspecifiedMatching -orphanet.ordo:2608 N syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2608 N syndrome oboInOwl:hasDbXref MESH:C536108 semapv:UnspecifiedMatching -orphanet.ordo:2608 N syndrome oboInOwl:hasDbXref MeSH:C536108 semapv:UnspecifiedMatching -orphanet.ordo:2608 N syndrome oboInOwl:hasDbXref OMIM:310465 semapv:UnspecifiedMatching -orphanet.ordo:2608 N syndrome oboInOwl:hasDbXref UMLS:C2936859 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:301020 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:301021 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618222 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618224 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618225 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618226 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618229 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618230 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618232 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618233 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618234 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618236 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618237 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618238 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618240 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618241 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618242 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618245 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618246 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618250 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618251 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618253 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618776 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619003 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619170 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619272 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:620135 semapv:UnspecifiedMatching -orphanet.ordo:2609 Isolated complex I deficiency oboInOwl:hasDbXref UMLS:C2936907 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MeSH:D020389 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612998 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching -orphanet.ordo:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410189 semapv:UnspecifiedMatching -orphanet.ordo:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching -orphanet.ordo:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 semapv:UnspecifiedMatching -orphanet.ordo:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref UMLS:C1708349 semapv:UnspecifiedMatching -orphanet.ordo:2611 Linear verrucous nevus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:261112 Monosomy 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261112 Monosomy 9p oboInOwl:hasDbXref OMIM:158170 semapv:UnspecifiedMatching -orphanet.ordo:261112 Monosomy 9p oboInOwl:hasDbXref UMLS:C0795830 semapv:UnspecifiedMatching -orphanet.ordo:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613457 semapv:UnspecifiedMatching -orphanet.ordo:261144 FOXG1 syndrome due to 14q12 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:615656 semapv:UnspecifiedMatching -orphanet.ordo:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C3180937 semapv:UnspecifiedMatching -orphanet.ordo:261190 15q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261190 15q14 microdeletion syndrome oboInOwl:hasDbXref OMIM:616898 semapv:UnspecifiedMatching -orphanet.ordo:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:611913 semapv:UnspecifiedMatching -orphanet.ordo:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref OMIM:163200 semapv:UnspecifiedMatching -orphanet.ordo:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613604 semapv:UnspecifiedMatching -orphanet.ordo:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613444 semapv:UnspecifiedMatching -orphanet.ordo:261229 14q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:261236 16p13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261257 Distal 17p13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref OMIM:614527 semapv:UnspecifiedMatching -orphanet.ordo:261272 17q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:261272 17q12 microduplication syndrome oboInOwl:hasDbXref OMIM:614526 semapv:UnspecifiedMatching -orphanet.ordo:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613355 semapv:UnspecifiedMatching -orphanet.ordo:261290 Trisomy 17p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:261290 Trisomy 17p oboInOwl:hasDbXref UMLS:C0795865 semapv:UnspecifiedMatching -orphanet.ordo:261295 20p12.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:2613 Nail-patella-like renal disease oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching -orphanet.ordo:2613 Nail-patella-like renal disease oboInOwl:hasDbXref OMIM:256020 semapv:UnspecifiedMatching -orphanet.ordo:2613 Nail-patella-like renal disease oboInOwl:hasDbXref UMLS:C0403548 semapv:UnspecifiedMatching -orphanet.ordo:261304 Paternal 20q13.2q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261311 20q13.33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261318 Trisomy 20p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:261318 Trisomy 20p oboInOwl:hasDbXref UMLS:C2930888 semapv:UnspecifiedMatching -orphanet.ordo:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:611867 semapv:UnspecifiedMatching -orphanet.ordo:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2678480 semapv:UnspecifiedMatching -orphanet.ordo:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:261344 Trisomy 1q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:612513 semapv:UnspecifiedMatching -orphanet.ordo:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2675875 semapv:UnspecifiedMatching -orphanet.ordo:26137 Juvenile temporal arteritis oboInOwl:hasDbXref ICD10:L95.8 semapv:UnspecifiedMatching -orphanet.ordo:26137 Juvenile temporal arteritis oboInOwl:hasDbXref UMLS:C0751547 semapv:UnspecifiedMatching -orphanet.ordo:2614 Nail-patella syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2614 Nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:UnspecifiedMatching -orphanet.ordo:2614 Nail-patella syndrome oboInOwl:hasDbXref MeSH:D009261 semapv:UnspecifiedMatching -orphanet.ordo:2614 Nail-patella syndrome oboInOwl:hasDbXref MedDRA:10063431 semapv:UnspecifiedMatching -orphanet.ordo:2614 Nail-patella syndrome oboInOwl:hasDbXref OMIM:161200 semapv:UnspecifiedMatching -orphanet.ordo:2614 Nail-patella syndrome oboInOwl:hasDbXref UMLS:C0027341 semapv:UnspecifiedMatching -orphanet.ordo:261476 Xp21 deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:261476 Xp21 deletion syndrome oboInOwl:hasDbXref OMIM:300679 semapv:UnspecifiedMatching -orphanet.ordo:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref OMIM:300869 semapv:UnspecifiedMatching -orphanet.ordo:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:261494 Kleefstra syndrome oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching -orphanet.ordo:261494 Kleefstra syndrome oboInOwl:hasDbXref UMLS:C0795833 semapv:UnspecifiedMatching -orphanet.ordo:261501 Atypical Norrie disease due to Xp11.3 microdeletion oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:261519 Maternal uniparental disomy of chromosome X oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -orphanet.ordo:261534 49,XXXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching -orphanet.ordo:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching -orphanet.ordo:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching -orphanet.ordo:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:2616 3M syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2616 3M syndrome oboInOwl:hasDbXref OMIM:273750 semapv:UnspecifiedMatching -orphanet.ordo:2616 3M syndrome oboInOwl:hasDbXref OMIM:612921 semapv:UnspecifiedMatching -orphanet.ordo:2616 3M syndrome oboInOwl:hasDbXref OMIM:614205 semapv:UnspecifiedMatching -orphanet.ordo:2616 3M syndrome oboInOwl:hasDbXref UMLS:C1848862 semapv:UnspecifiedMatching -orphanet.ordo:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching -orphanet.ordo:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching -orphanet.ordo:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching -orphanet.ordo:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching -orphanet.ordo:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching -orphanet.ordo:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching -orphanet.ordo:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:261647 Okihiro syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching -orphanet.ordo:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref OMIM:617768 semapv:UnspecifiedMatching -orphanet.ordo:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref MESH:C535448 semapv:UnspecifiedMatching -orphanet.ordo:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref MeSH:C535448 semapv:UnspecifiedMatching -orphanet.ordo:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref OMIM:210700 semapv:UnspecifiedMatching -orphanet.ordo:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref UMLS:C1859468 semapv:UnspecifiedMatching -orphanet.ordo:261857 Partial deletion of the short arm of chromosome 1 oboInOwl:hasDbXref UMLS:C0795796 semapv:UnspecifiedMatching -orphanet.ordo:261893 Partial deletion of the short arm of chromosome 5 oboInOwl:hasDbXref UMLS:C0010314 semapv:UnspecifiedMatching -orphanet.ordo:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref MESH:C537086 semapv:UnspecifiedMatching -orphanet.ordo:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref MeSH:C537086 semapv:UnspecifiedMatching -orphanet.ordo:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref OMIM:613342 semapv:UnspecifiedMatching -orphanet.ordo:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref UMLS:C2931420 semapv:UnspecifiedMatching -orphanet.ordo:261920 Partial deletion of the short arm of chromosome 8 oboInOwl:hasDbXref UMLS:C2931634 semapv:UnspecifiedMatching -orphanet.ordo:261929 Partial deletion of the short arm of chromosome 9 oboInOwl:hasDbXref UMLS:C0265425 semapv:UnspecifiedMatching -orphanet.ordo:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795836 semapv:UnspecifiedMatching -orphanet.ordo:261974 Partial deletion of the short arm of chromosome 18 oboInOwl:hasDbXref UMLS:C0432442 semapv:UnspecifiedMatching -orphanet.ordo:262 Duchenne and Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C3542021 semapv:UnspecifiedMatching -orphanet.ordo:262010 Partial deletion of the long arm of chromosome 2 oboInOwl:hasDbXref UMLS:C0795804 semapv:UnspecifiedMatching -orphanet.ordo:262029 Partial deletion of the long arm of chromosome 4 oboInOwl:hasDbXref UMLS:C0265404 semapv:UnspecifiedMatching -orphanet.ordo:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref UMLS:C0740302 semapv:UnspecifiedMatching -orphanet.ordo:262047 Partial deletion of the long arm of chromosome 6 oboInOwl:hasDbXref UMLS:C0795816 semapv:UnspecifiedMatching -orphanet.ordo:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref UMLS:C0795828 semapv:UnspecifiedMatching -orphanet.ordo:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795839 semapv:UnspecifiedMatching -orphanet.ordo:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref UMLS:C0265451 semapv:UnspecifiedMatching -orphanet.ordo:262146 Partial deletion of the long arm of chromosome 18 oboInOwl:hasDbXref UMLS:C0432443 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref MESH:C537677 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref MeSH:C537677 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref MedDRA:10063361 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:231050 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:614185 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:617809 semapv:UnspecifiedMatching -orphanet.ordo:2623 Geleophysic dysplasia oboInOwl:hasDbXref UMLS:C3489726 semapv:UnspecifiedMatching -orphanet.ordo:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv:UnspecifiedMatching -orphanet.ordo:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref MeSH:D049288 semapv:UnspecifiedMatching -orphanet.ordo:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C0686353 semapv:UnspecifiedMatching -orphanet.ordo:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref OMIM:249710 semapv:UnspecifiedMatching -orphanet.ordo:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref UMLS:C2930871 semapv:UnspecifiedMatching -orphanet.ordo:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref MESH:C537267 semapv:UnspecifiedMatching -orphanet.ordo:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref MeSH:C537267 semapv:UnspecifiedMatching -orphanet.ordo:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref OMIM:249700 semapv:UnspecifiedMatching -orphanet.ordo:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref UMLS:C0432230 semapv:UnspecifiedMatching -orphanet.ordo:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref OMIM:613507 semapv:UnspecifiedMatching -orphanet.ordo:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref OMIM:163400 semapv:UnspecifiedMatching -orphanet.ordo:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref UMLS:C0432231 semapv:UnspecifiedMatching -orphanet.ordo:263310 Thymoma type A oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:263310 Thymoma type A oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching -orphanet.ordo:263310 Thymoma type A oboInOwl:hasDbXref UMLS:C1266091 semapv:UnspecifiedMatching -orphanet.ordo:263317 Thymoma type B oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:263317 Thymoma type B oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching -orphanet.ordo:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching -orphanet.ordo:263324 Thymoma type AB oboInOwl:hasDbXref UMLS:C1266092 semapv:UnspecifiedMatching -orphanet.ordo:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching -orphanet.ordo:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:619082 semapv:UnspecifiedMatching -orphanet.ordo:263347 MRCS syndrome oboInOwl:hasDbXref UMLS:C2674009 semapv:UnspecifiedMatching -orphanet.ordo:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref ICD10:I97.8 semapv:UnspecifiedMatching -orphanet.ordo:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref MESH:C537349 semapv:UnspecifiedMatching -orphanet.ordo:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref MeSH:C537349 semapv:UnspecifiedMatching -orphanet.ordo:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref OMIM:191400 semapv:UnspecifiedMatching -orphanet.ordo:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref UMLS:C1860616 semapv:UnspecifiedMatching -orphanet.ordo:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:263413 Angiosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:263413 Angiosarcoma oboInOwl:hasDbXref MedDRA:10002476 semapv:UnspecifiedMatching -orphanet.ordo:263413 Angiosarcoma oboInOwl:hasDbXref UMLS:C0018923 semapv:UnspecifiedMatching -orphanet.ordo:263417 Bartter syndrome with hypocalcemia oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching -orphanet.ordo:263425 Nevus of Ota oboInOwl:hasDbXref MedDRA:10051713 semapv:UnspecifiedMatching -orphanet.ordo:263425 Nevus of Ota oboInOwl:hasDbXref UMLS:C0027961 semapv:UnspecifiedMatching -orphanet.ordo:263432 Nevus of Ito oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching -orphanet.ordo:263432 Nevus of Ito oboInOwl:hasDbXref UMLS:C0022283 semapv:UnspecifiedMatching -orphanet.ordo:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref ICD10:C44.8 semapv:UnspecifiedMatching -orphanet.ordo:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref UMLS:C0406819 semapv:UnspecifiedMatching -orphanet.ordo:263440 Neuroacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 semapv:UnspecifiedMatching -orphanet.ordo:263455 Congenital hyperinsulinism due to HNF4A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref OMIM:609968 semapv:UnspecifiedMatching -orphanet.ordo:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref OMIM:143095 semapv:UnspecifiedMatching -orphanet.ordo:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref UMLS:C2931649 semapv:UnspecifiedMatching -orphanet.ordo:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching -orphanet.ordo:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref MedDRA:10017406 semapv:UnspecifiedMatching -orphanet.ordo:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref UMLS:C0016782 semapv:UnspecifiedMatching -orphanet.ordo:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref UMLS:C0392610 semapv:UnspecifiedMatching -orphanet.ordo:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching -orphanet.ordo:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching -orphanet.ordo:263487 COG5-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:263487 COG5-CDG oboInOwl:hasDbXref OMIM:613612 semapv:UnspecifiedMatching -orphanet.ordo:26349 Protein S acquired deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:26349 Protein S acquired deficiency oboInOwl:hasDbXref MedDRA:10068370 semapv:UnspecifiedMatching -orphanet.ordo:26349 Protein S acquired deficiency oboInOwl:hasDbXref UMLS:C2363755 semapv:UnspecifiedMatching -orphanet.ordo:263494 DPM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:263494 DPM3-CDG oboInOwl:hasDbXref OMIM:612937 semapv:UnspecifiedMatching -orphanet.ordo:263494 DPM3-CDG oboInOwl:hasDbXref UMLS:C2752007 semapv:UnspecifiedMatching -orphanet.ordo:2635 Metatropic dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:2635 Metatropic dysplasia oboInOwl:hasDbXref MESH:C537356 semapv:UnspecifiedMatching -orphanet.ordo:2635 Metatropic dysplasia oboInOwl:hasDbXref MeSH:C537356 semapv:UnspecifiedMatching -orphanet.ordo:2635 Metatropic dysplasia oboInOwl:hasDbXref OMIM:156530 semapv:UnspecifiedMatching -orphanet.ordo:2635 Metatropic dysplasia oboInOwl:hasDbXref UMLS:C0265281 semapv:UnspecifiedMatching -orphanet.ordo:263501 COG4-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:263501 COG4-CDG oboInOwl:hasDbXref OMIM:613489 semapv:UnspecifiedMatching -orphanet.ordo:263508 COG1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:263508 COG1-CDG oboInOwl:hasDbXref OMIM:611209 semapv:UnspecifiedMatching -orphanet.ordo:263508 COG1-CDG oboInOwl:hasDbXref UMLS:C2931011 semapv:UnspecifiedMatching -orphanet.ordo:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching -orphanet.ordo:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref UMLS:C2673257 semapv:UnspecifiedMatching -orphanet.ordo:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref OMIM:614212 semapv:UnspecifiedMatching -orphanet.ordo:263534 Acral peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:263534 Acral peeling skin syndrome oboInOwl:hasDbXref OMIM:609796 semapv:UnspecifiedMatching -orphanet.ordo:263534 Acral peeling skin syndrome oboInOwl:hasDbXref UMLS:C1853354 semapv:UnspecifiedMatching -orphanet.ordo:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching -orphanet.ordo:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching -orphanet.ordo:263548 Peeling skin syndrome type A oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching -orphanet.ordo:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:618084 semapv:UnspecifiedMatching -orphanet.ordo:263553 Peeling skin syndrome type B oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:263553 Peeling skin syndrome type B oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching -orphanet.ordo:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref OMIM:210710 semapv:UnspecifiedMatching -orphanet.ordo:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref OMIM:210730 semapv:UnspecifiedMatching -orphanet.ordo:263662 Familial multiple meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching -orphanet.ordo:263662 Familial multiple meningioma oboInOwl:hasDbXref OMIM:607174 semapv:UnspecifiedMatching -orphanet.ordo:263665 NK-cell enteropathy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching -orphanet.ordo:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref OMIM:210720 semapv:UnspecifiedMatching -orphanet.ordo:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref UMLS:C0432246 semapv:UnspecifiedMatching -orphanet.ordo:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:228900 semapv:UnspecifiedMatching -orphanet.ordo:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching -orphanet.ordo:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1856738 semapv:UnspecifiedMatching -orphanet.ordo:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:159001 semapv:UnspecifiedMatching -orphanet.ordo:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1834653 semapv:UnspecifiedMatching -orphanet.ordo:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching -orphanet.ordo:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref MESH:C537321 semapv:UnspecifiedMatching -orphanet.ordo:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref MeSH:C537321 semapv:UnspecifiedMatching -orphanet.ordo:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref OMIM:251190 semapv:UnspecifiedMatching -orphanet.ordo:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref UMLS:C1855089 semapv:UnspecifiedMatching -orphanet.ordo:264450 Trisomy 8p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching -orphanet.ordo:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref MESH:C536050 semapv:UnspecifiedMatching -orphanet.ordo:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref MeSH:C536050 semapv:UnspecifiedMatching -orphanet.ordo:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref OMIM:166250 semapv:UnspecifiedMatching -orphanet.ordo:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref UMLS:C0432283 semapv:UnspecifiedMatching -orphanet.ordo:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:306000 semapv:UnspecifiedMatching -orphanet.ordo:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:613027 semapv:UnspecifiedMatching -orphanet.ordo:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C2751643 semapv:UnspecifiedMatching -orphanet.ordo:2646 Parastremmatic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2646 Parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching -orphanet.ordo:2646 Parastremmatic dwarfism oboInOwl:hasDbXref MeSH:C537172 semapv:UnspecifiedMatching -orphanet.ordo:2646 Parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching -orphanet.ordo:2646 Parastremmatic dwarfism oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching -orphanet.ordo:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 semapv:UnspecifiedMatching -orphanet.ordo:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 semapv:UnspecifiedMatching -orphanet.ordo:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C2931035 semapv:UnspecifiedMatching -orphanet.ordo:264688 Congenital chylothorax oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching -orphanet.ordo:264688 Congenital chylothorax oboInOwl:hasDbXref OMIM:603523 semapv:UnspecifiedMatching -orphanet.ordo:264688 Congenital chylothorax oboInOwl:hasDbXref UMLS:C0340014 semapv:UnspecifiedMatching -orphanet.ordo:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref UMLS:C3854530 semapv:UnspecifiedMatching -orphanet.ordo:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching -orphanet.ordo:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C2930979 semapv:UnspecifiedMatching -orphanet.ordo:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.2 semapv:UnspecifiedMatching -orphanet.ordo:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.3 semapv:UnspecifiedMatching -orphanet.ordo:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.4 semapv:UnspecifiedMatching -orphanet.ordo:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching -orphanet.ordo:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1832567 semapv:UnspecifiedMatching -orphanet.ordo:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref OMIM:272450 semapv:UnspecifiedMatching -orphanet.ordo:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref UMLS:C2931647 semapv:UnspecifiedMatching -orphanet.ordo:2655 Thanatophoric dysplasia oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching -orphanet.ordo:2655 Thanatophoric dysplasia oboInOwl:hasDbXref MedDRA:10049808 semapv:UnspecifiedMatching -orphanet.ordo:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:156830 semapv:UnspecifiedMatching -orphanet.ordo:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching -orphanet.ordo:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching -orphanet.ordo:2655 Thanatophoric dysplasia oboInOwl:hasDbXref UMLS:C0039743 semapv:UnspecifiedMatching -orphanet.ordo:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MESH:C537115 semapv:UnspecifiedMatching -orphanet.ordo:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MeSH:C537115 semapv:UnspecifiedMatching -orphanet.ordo:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref OMIM:151050 semapv:UnspecifiedMatching -orphanet.ordo:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS:C0432269 semapv:UnspecifiedMatching -orphanet.ordo:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:159000 semapv:UnspecifiedMatching -orphanet.ordo:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching -orphanet.ordo:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref UMLS:C1834659 semapv:UnspecifiedMatching -orphanet.ordo:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref MESH:C535725 semapv:UnspecifiedMatching -orphanet.ordo:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref MeSH:C535725 semapv:UnspecifiedMatching -orphanet.ordo:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref OMIM:126950 semapv:UnspecifiedMatching -orphanet.ordo:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref UMLS:C1851996 semapv:UnspecifiedMatching -orphanet.ordo:2662 Keipert syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2662 Keipert syndrome oboInOwl:hasDbXref OMIM:301026 semapv:UnspecifiedMatching -orphanet.ordo:2662 Keipert syndrome oboInOwl:hasDbXref UMLS:C1850627 semapv:UnspecifiedMatching -orphanet.ordo:2663 Nathalie syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2663 Nathalie syndrome oboInOwl:hasDbXref MESH:C538342 semapv:UnspecifiedMatching -orphanet.ordo:2663 Nathalie syndrome oboInOwl:hasDbXref MeSH:C538342 semapv:UnspecifiedMatching -orphanet.ordo:2663 Nathalie syndrome oboInOwl:hasDbXref OMIM:255990 semapv:UnspecifiedMatching -orphanet.ordo:2663 Nathalie syndrome oboInOwl:hasDbXref UMLS:C1850626 semapv:UnspecifiedMatching -orphanet.ordo:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref ICD10:D41.0 semapv:UnspecifiedMatching -orphanet.ordo:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MESH:D018201 semapv:UnspecifiedMatching -orphanet.ordo:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MeSH:D018201 semapv:UnspecifiedMatching -orphanet.ordo:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MedDRA:10070665 semapv:UnspecifiedMatching -orphanet.ordo:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1332965 semapv:UnspecifiedMatching -orphanet.ordo:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching -orphanet.ordo:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref MESH:C536401 semapv:UnspecifiedMatching -orphanet.ordo:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref MeSH:C536401 semapv:UnspecifiedMatching -orphanet.ordo:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref OMIM:256120 semapv:UnspecifiedMatching -orphanet.ordo:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref UMLS:C1850553 semapv:UnspecifiedMatching -orphanet.ordo:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref MESH:C536402 semapv:UnspecifiedMatching -orphanet.ordo:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref MeSH:C536402 semapv:UnspecifiedMatching -orphanet.ordo:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref OMIM:256200 semapv:UnspecifiedMatching -orphanet.ordo:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref UMLS:C1850552 semapv:UnspecifiedMatching -orphanet.ordo:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:253600 semapv:UnspecifiedMatching -orphanet.ordo:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:618129 semapv:UnspecifiedMatching -orphanet.ordo:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref UMLS:C1869123 semapv:UnspecifiedMatching -orphanet.ordo:2670 Pierson syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:2670 Pierson syndrome oboInOwl:hasDbXref MESH:C537185 semapv:UnspecifiedMatching -orphanet.ordo:2670 Pierson syndrome oboInOwl:hasDbXref MeSH:C537185 semapv:UnspecifiedMatching -orphanet.ordo:2670 Pierson syndrome oboInOwl:hasDbXref OMIM:609049 semapv:UnspecifiedMatching -orphanet.ordo:2670 Pierson syndrome oboInOwl:hasDbXref UMLS:C1836876 semapv:UnspecifiedMatching -orphanet.ordo:2671 Neu-Laxova syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2671 Neu-Laxova syndrome oboInOwl:hasDbXref MESH:C536405 semapv:UnspecifiedMatching -orphanet.ordo:2671 Neu-Laxova syndrome oboInOwl:hasDbXref MeSH:C536405 semapv:UnspecifiedMatching -orphanet.ordo:2671 Neu-Laxova syndrome oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching -orphanet.ordo:2671 Neu-Laxova syndrome oboInOwl:hasDbXref OMIM:616038 semapv:UnspecifiedMatching -orphanet.ordo:2671 Neu-Laxova syndrome oboInOwl:hasDbXref UMLS:C0265218 semapv:UnspecifiedMatching -orphanet.ordo:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref MESH:C536407 semapv:UnspecifiedMatching -orphanet.ordo:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref MeSH:C536407 semapv:UnspecifiedMatching -orphanet.ordo:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref OMIM:130950 semapv:UnspecifiedMatching -orphanet.ordo:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref UMLS:C1851708 semapv:UnspecifiedMatching -orphanet.ordo:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref MESH:C537388 semapv:UnspecifiedMatching -orphanet.ordo:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref MeSH:C537388 semapv:UnspecifiedMatching -orphanet.ordo:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref OMIM:256690 semapv:UnspecifiedMatching -orphanet.ordo:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref UMLS:C0796088 semapv:UnspecifiedMatching -orphanet.ordo:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref MESH:C536229 semapv:UnspecifiedMatching -orphanet.ordo:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref MeSH:C536229 semapv:UnspecifiedMatching -orphanet.ordo:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref OMIM:123853 semapv:UnspecifiedMatching -orphanet.ordo:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref UMLS:C1852396 semapv:UnspecifiedMatching -orphanet.ordo:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref ICD10:L81.3 semapv:UnspecifiedMatching -orphanet.ordo:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref OMIM:114030 semapv:UnspecifiedMatching -orphanet.ordo:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref UMLS:C1861975 semapv:UnspecifiedMatching -orphanet.ordo:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref ICD10:C78.6 semapv:UnspecifiedMatching -orphanet.ordo:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:UnspecifiedMatching -orphanet.ordo:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MeSH:D011553 semapv:UnspecifiedMatching -orphanet.ordo:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MedDRA:10037138 semapv:UnspecifiedMatching -orphanet.ordo:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref UMLS:C0033822 semapv:UnspecifiedMatching -orphanet.ordo:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching -orphanet.ordo:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268596 semapv:UnspecifiedMatching -orphanet.ordo:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C537596 semapv:UnspecifiedMatching -orphanet.ordo:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MeSH:C537596 semapv:UnspecifiedMatching -orphanet.ordo:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201470 semapv:UnspecifiedMatching -orphanet.ordo:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201475 semapv:UnspecifiedMatching -orphanet.ordo:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3887523 semapv:UnspecifiedMatching -orphanet.ordo:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref OMIM:253601 semapv:UnspecifiedMatching -orphanet.ordo:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref UMLS:C1850889 semapv:UnspecifiedMatching -orphanet.ordo:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:616286 semapv:UnspecifiedMatching -orphanet.ordo:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:616287 semapv:UnspecifiedMatching -orphanet.ordo:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:617468 semapv:UnspecifiedMatching -orphanet.ordo:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:618186 semapv:UnspecifiedMatching -orphanet.ordo:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -orphanet.ordo:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref OMIM:614470 semapv:UnspecifiedMatching -orphanet.ordo:268129 Spheroid body myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:268129 Spheroid body myopathy oboInOwl:hasDbXref OMIM:182920 semapv:UnspecifiedMatching -orphanet.ordo:268129 Spheroid body myopathy oboInOwl:hasDbXref UMLS:C1866785 semapv:UnspecifiedMatching -orphanet.ordo:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref ICD10:D31.4 semapv:UnspecifiedMatching -orphanet.ordo:268145 Classic maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching -orphanet.ordo:268145 Classic maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -orphanet.ordo:268145 Classic maple syrup urine disease oboInOwl:hasDbXref UMLS:C0268568 semapv:UnspecifiedMatching -orphanet.ordo:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching -orphanet.ordo:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -orphanet.ordo:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching -orphanet.ordo:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref UMLS:C1621920 semapv:UnspecifiedMatching -orphanet.ordo:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching -orphanet.ordo:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -orphanet.ordo:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref UMLS:C0268569 semapv:UnspecifiedMatching -orphanet.ordo:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching -orphanet.ordo:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -orphanet.ordo:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref UMLS:C0751285 semapv:UnspecifiedMatching -orphanet.ordo:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching -orphanet.ordo:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:268316 Complication in hemodialysis oboInOwl:hasDbXref ICD10:Y84.1 semapv:UnspecifiedMatching -orphanet.ordo:268316 Complication in hemodialysis oboInOwl:hasDbXref MedDRA:10070476 semapv:UnspecifiedMatching -orphanet.ordo:268316 Complication in hemodialysis oboInOwl:hasDbXref UMLS:C0274417 semapv:UnspecifiedMatching -orphanet.ordo:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching -orphanet.ordo:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching -orphanet.ordo:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching -orphanet.ordo:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching -orphanet.ordo:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:182940 semapv:UnspecifiedMatching -orphanet.ordo:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching -orphanet.ordo:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching -orphanet.ordo:268363 Open iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching -orphanet.ordo:268363 Open iniencephaly oboInOwl:hasDbXref UMLS:C0431285 semapv:UnspecifiedMatching -orphanet.ordo:268366 Closed iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching -orphanet.ordo:268366 Closed iniencephaly oboInOwl:hasDbXref UMLS:C0431286 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.4 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.5 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.6 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching -orphanet.ordo:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching -orphanet.ordo:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:2686 Cyclic neutropenia oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching -orphanet.ordo:2686 Cyclic neutropenia oboInOwl:hasDbXref MeSH:C536227 semapv:UnspecifiedMatching -orphanet.ordo:2686 Cyclic neutropenia oboInOwl:hasDbXref MedDRA:10053176 semapv:UnspecifiedMatching -orphanet.ordo:2686 Cyclic neutropenia oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching -orphanet.ordo:2686 Cyclic neutropenia oboInOwl:hasDbXref UMLS:C0221023 semapv:UnspecifiedMatching -orphanet.ordo:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching -orphanet.ordo:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref UMLS:C2930809 semapv:UnspecifiedMatching -orphanet.ordo:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MedDRA:10071011 semapv:UnspecifiedMatching -orphanet.ordo:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref UMLS:C0037917 semapv:UnspecifiedMatching -orphanet.ordo:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref OMIM:607847 semapv:UnspecifiedMatching -orphanet.ordo:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref UMLS:C1842930 semapv:UnspecifiedMatching -orphanet.ordo:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching -orphanet.ordo:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching -orphanet.ordo:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching -orphanet.ordo:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching -orphanet.ordo:268813 Myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching -orphanet.ordo:268813 Myelocystocele oboInOwl:hasDbXref UMLS:C4551677 semapv:UnspecifiedMatching -orphanet.ordo:268817 Cephalocele oboInOwl:hasDbXref ICD10:Q01 semapv:UnspecifiedMatching -orphanet.ordo:268817 Cephalocele oboInOwl:hasDbXref UMLS:C0014065 semapv:UnspecifiedMatching -orphanet.ordo:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching -orphanet.ordo:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching -orphanet.ordo:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching -orphanet.ordo:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching -orphanet.ordo:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching -orphanet.ordo:268820 Cranial meningocele oboInOwl:hasDbXref UMLS:C0009694 semapv:UnspecifiedMatching -orphanet.ordo:268823 Occipital encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching -orphanet.ordo:268823 Occipital encephalocele oboInOwl:hasDbXref UMLS:C0014067 semapv:UnspecifiedMatching -orphanet.ordo:268826 Parietal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching -orphanet.ordo:268826 Parietal encephalocele oboInOwl:hasDbXref UMLS:C0431294 semapv:UnspecifiedMatching -orphanet.ordo:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching -orphanet.ordo:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching -orphanet.ordo:268835 Lipomyelomeningocele oboInOwl:hasDbXref UMLS:C1836022 semapv:UnspecifiedMatching -orphanet.ordo:268861 Primary tethered cord syndrome oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching -orphanet.ordo:268865 Neurenteric cyst oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching -orphanet.ordo:268865 Neurenteric cyst oboInOwl:hasDbXref UMLS:C0027806 semapv:UnspecifiedMatching -orphanet.ordo:268868 Isolated amyelia oboInOwl:hasDbXref ICD10:Q06.0 semapv:UnspecifiedMatching -orphanet.ordo:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref ICD10:Q07.0 semapv:UnspecifiedMatching -orphanet.ordo:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref MedDRA:10056944 semapv:UnspecifiedMatching -orphanet.ordo:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref OMIM:118420 semapv:UnspecifiedMatching -orphanet.ordo:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref UMLS:C0750929 semapv:UnspecifiedMatching -orphanet.ordo:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:268920 Isolated megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching -orphanet.ordo:268920 Isolated megalencephaly oboInOwl:hasDbXref UMLS:C0221355 semapv:UnspecifiedMatching -orphanet.ordo:268936 Isolated arhinencephaly oboInOwl:hasDbXref ICD10:Q04.1 semapv:UnspecifiedMatching -orphanet.ordo:268936 Isolated arhinencephaly oboInOwl:hasDbXref UMLS:C0078982 semapv:UnspecifiedMatching -orphanet.ordo:268940 Bilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:300388 semapv:UnspecifiedMatching -orphanet.ordo:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:606854 semapv:UnspecifiedMatching -orphanet.ordo:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:612691 semapv:UnspecifiedMatching -orphanet.ordo:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:615752 semapv:UnspecifiedMatching -orphanet.ordo:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:616531 semapv:UnspecifiedMatching -orphanet.ordo:268943 Unilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:268947 Unilateral focal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:268950 Cerebral cortical dysplasia oboInOwl:hasDbXref UMLS:C0431380 semapv:UnspecifiedMatching -orphanet.ordo:268961 Isolated focal cortical dysplasia type I oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:268973 Isolated focal cortical dysplasia type Ia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:268980 Isolated focal cortical dysplasia type Ib oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:268987 Isolated focal cortical dysplasia type Ic oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching -orphanet.ordo:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref UMLS:C1846385 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref MedDRA:10064087 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158900 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158901 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:600416 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:619477 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:619478 semapv:UnspecifiedMatching -orphanet.ordo:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref UMLS:C0238288 semapv:UnspecifiedMatching -orphanet.ordo:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching -orphanet.ordo:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching -orphanet.ordo:2691 Nevo syndrome oboInOwl:hasDbXref MESH:C536113 semapv:UnspecifiedMatching -orphanet.ordo:2691 Nevo syndrome oboInOwl:hasDbXref MeSH:C536113 semapv:UnspecifiedMatching -orphanet.ordo:2691 Nevo syndrome oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching -orphanet.ordo:2691 Nevo syndrome oboInOwl:hasDbXref UMLS:C2936777 semapv:UnspecifiedMatching -orphanet.ordo:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching -orphanet.ordo:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:269206 Isolated total cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:269218 Isolated unilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:269221 Isolated bilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:269229 Pontine tegmental cap dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:269229 Pontine tegmental cap dysplasia oboInOwl:hasDbXref OMIM:614688 semapv:UnspecifiedMatching -orphanet.ordo:2695 Bifid nose oboInOwl:hasDbXref ICD10:Q30.2 semapv:UnspecifiedMatching -orphanet.ordo:2695 Bifid nose oboInOwl:hasDbXref MESH:C535441 semapv:UnspecifiedMatching -orphanet.ordo:2695 Bifid nose oboInOwl:hasDbXref MeSH:C535441 semapv:UnspecifiedMatching -orphanet.ordo:2695 Bifid nose oboInOwl:hasDbXref OMIM:109740 semapv:UnspecifiedMatching -orphanet.ordo:2695 Bifid nose oboInOwl:hasDbXref OMIM:210400 semapv:UnspecifiedMatching -orphanet.ordo:2695 Bifid nose oboInOwl:hasDbXref UMLS:C0221363 semapv:UnspecifiedMatching -orphanet.ordo:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching -orphanet.ordo:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching -orphanet.ordo:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching -orphanet.ordo:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref ICD10:Q89.7 semapv:UnspecifiedMatching -orphanet.ordo:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref MESH:C535382 semapv:UnspecifiedMatching -orphanet.ordo:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref MeSH:C535382 semapv:UnspecifiedMatching -orphanet.ordo:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref OMIM:208085 semapv:UnspecifiedMatching -orphanet.ordo:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref OMIM:613404 semapv:UnspecifiedMatching -orphanet.ordo:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref UMLS:C1859722 semapv:UnspecifiedMatching -orphanet.ordo:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:149200 semapv:UnspecifiedMatching -orphanet.ordo:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref UMLS:C0266004 semapv:UnspecifiedMatching -orphanet.ordo:2699 Median nodule of the upper lip oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:2699 Median nodule of the upper lip oboInOwl:hasDbXref OMIM:151630 semapv:UnspecifiedMatching -orphanet.ordo:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching -orphanet.ordo:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref UMLS:C1855114 semapv:UnspecifiedMatching -orphanet.ordo:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 semapv:UnspecifiedMatching -orphanet.ordo:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MeSH:D039141 semapv:UnspecifiedMatching -orphanet.ordo:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MedDRA:10052181 semapv:UnspecifiedMatching -orphanet.ordo:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 semapv:UnspecifiedMatching -orphanet.ordo:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS:C0270952 semapv:UnspecifiedMatching -orphanet.ordo:2700 Noma oboInOwl:hasDbXref ICD10:A69.0 semapv:UnspecifiedMatching -orphanet.ordo:2700 Noma oboInOwl:hasDbXref MESH:D009625 semapv:UnspecifiedMatching -orphanet.ordo:2700 Noma oboInOwl:hasDbXref MeSH:D009625 semapv:UnspecifiedMatching -orphanet.ordo:2700 Noma oboInOwl:hasDbXref MedDRA:10029502 semapv:UnspecifiedMatching -orphanet.ordo:2700 Noma oboInOwl:hasDbXref UMLS:C0028271 semapv:UnspecifiedMatching -orphanet.ordo:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref OMIM:607721 semapv:UnspecifiedMatching -orphanet.ordo:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref OMIM:617506 semapv:UnspecifiedMatching -orphanet.ordo:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref UMLS:C3501846 semapv:UnspecifiedMatching -orphanet.ordo:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching -orphanet.ordo:2704 Ochoa syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching -orphanet.ordo:2704 Ochoa syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching -orphanet.ordo:2704 Ochoa syndrome oboInOwl:hasDbXref MeSH:C536480 semapv:UnspecifiedMatching -orphanet.ordo:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:236730 semapv:UnspecifiedMatching -orphanet.ordo:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:615112 semapv:UnspecifiedMatching -orphanet.ordo:2704 Ochoa syndrome oboInOwl:hasDbXref UMLS:C0403555 semapv:UnspecifiedMatching -orphanet.ordo:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref MESH:C537013 semapv:UnspecifiedMatching -orphanet.ordo:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref MeSH:C537013 semapv:UnspecifiedMatching -orphanet.ordo:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching -orphanet.ordo:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref UMLS:C1855663 semapv:UnspecifiedMatching -orphanet.ordo:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref MESH:C537732 semapv:UnspecifiedMatching -orphanet.ordo:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref MeSH:C537732 semapv:UnspecifiedMatching -orphanet.ordo:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref OMIM:180900 semapv:UnspecifiedMatching -orphanet.ordo:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref UMLS:C0796140 semapv:UnspecifiedMatching -orphanet.ordo:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref MedDRA:10063691 semapv:UnspecifiedMatching -orphanet.ordo:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:164200 semapv:UnspecifiedMatching -orphanet.ordo:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:257850 semapv:UnspecifiedMatching -orphanet.ordo:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref UMLS:C0812437 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref MESH:C537465 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref MESH:C537735 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref MeSH:C537465 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref MeSH:C537735 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching -orphanet.ordo:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref UMLS:C1846265 semapv:UnspecifiedMatching -orphanet.ordo:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref OMIM:211370 semapv:UnspecifiedMatching -orphanet.ordo:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref UMLS:C1859385 semapv:UnspecifiedMatching -orphanet.ordo:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref OMIM:257910 semapv:UnspecifiedMatching -orphanet.ordo:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref UMLS:C1850338 semapv:UnspecifiedMatching -orphanet.ordo:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref OMIM:257970 semapv:UnspecifiedMatching -orphanet.ordo:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref UMLS:C1850331 semapv:UnspecifiedMatching -orphanet.ordo:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref OMIM:248450 semapv:UnspecifiedMatching -orphanet.ordo:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref UMLS:C1855425 semapv:UnspecifiedMatching -orphanet.ordo:2718 Oculotrichodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2718 Oculotrichodysplasia oboInOwl:hasDbXref OMIM:257960 semapv:UnspecifiedMatching -orphanet.ordo:2718 Oculotrichodysplasia oboInOwl:hasDbXref UMLS:C1850332 semapv:UnspecifiedMatching -orphanet.ordo:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref OMIM:257800 semapv:UnspecifiedMatching -orphanet.ordo:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref UMLS:C2936910 semapv:UnspecifiedMatching -orphanet.ordo:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching -orphanet.ordo:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref UMLS:C0410174 semapv:UnspecifiedMatching -orphanet.ordo:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref MESH:C537866 semapv:UnspecifiedMatching -orphanet.ordo:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref MeSH:C537866 semapv:UnspecifiedMatching -orphanet.ordo:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref OMIM:257790 semapv:UnspecifiedMatching -orphanet.ordo:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref UMLS:C2931646 semapv:UnspecifiedMatching -orphanet.ordo:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref MESH:C537742 semapv:UnspecifiedMatching -orphanet.ordo:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref MeSH:C537742 semapv:UnspecifiedMatching -orphanet.ordo:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref OMIM:257980 semapv:UnspecifiedMatching -orphanet.ordo:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref UMLS:C0796093 semapv:UnspecifiedMatching -orphanet.ordo:2722 Odonto-onycho dysplasia-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref OMIM:273400 semapv:UnspecifiedMatching -orphanet.ordo:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching -orphanet.ordo:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref OMIM:164330 semapv:UnspecifiedMatching -orphanet.ordo:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref UMLS:C1834013 semapv:UnspecifiedMatching -orphanet.ordo:2725 Eye defects-arachnodactyly-cardiopathy syndrome oboInOwl:hasDbXref OMIM:609465 semapv:UnspecifiedMatching -orphanet.ordo:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref OMIM:249620 semapv:UnspecifiedMatching -orphanet.ordo:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref UMLS:C0796094 semapv:UnspecifiedMatching -orphanet.ordo:2729 Okamoto syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2729 Okamoto syndrome oboInOwl:hasDbXref OMIM:604916 semapv:UnspecifiedMatching -orphanet.ordo:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:273 Steinert myotonic dystrophy oboInOwl:hasDbXref MESH:C538008 semapv:UnspecifiedMatching -orphanet.ordo:273 Steinert myotonic dystrophy oboInOwl:hasDbXref MeSH:C538008 semapv:UnspecifiedMatching -orphanet.ordo:273 Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching -orphanet.ordo:273 Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C2931688 semapv:UnspecifiedMatching -orphanet.ordo:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref OMIM:176240 semapv:UnspecifiedMatching -orphanet.ordo:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref UMLS:C1867924 semapv:UnspecifiedMatching -orphanet.ordo:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref MESH:C536945 semapv:UnspecifiedMatching -orphanet.ordo:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref MeSH:C536945 semapv:UnspecifiedMatching -orphanet.ordo:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref OMIM:272980 semapv:UnspecifiedMatching -orphanet.ordo:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref UMLS:C1848909 semapv:UnspecifiedMatching -orphanet.ordo:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:2733 Omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2733 Omodysplasia oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching -orphanet.ordo:2733 Omodysplasia oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching -orphanet.ordo:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref MESH:C537747 semapv:UnspecifiedMatching -orphanet.ordo:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref MeSH:C537747 semapv:UnspecifiedMatching -orphanet.ordo:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref OMIM:258320 semapv:UnspecifiedMatching -orphanet.ordo:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1850317 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref ICD10:B73 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref MESH:D009855 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref MESH:D015827 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref MeSH:D009855 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref MeSH:D015827 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref MedDRA:10030314 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref MedDRA:10039202 semapv:UnspecifiedMatching -orphanet.ordo:2737 Onchocerciasis oboInOwl:hasDbXref UMLS:C0029001 semapv:UnspecifiedMatching -orphanet.ordo:2739 Onycho-tricho-dysplasia-neutropenia syndrome oboInOwl:hasDbXref OMIM:258360 semapv:UnspecifiedMatching -orphanet.ordo:2739 Onycho-tricho-dysplasia-neutropenia syndrome oboInOwl:hasDbXref UMLS:C1850316 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MESH:D001606 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MeSH:D001606 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MedDRA:10057473 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:153670 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:231200 semapv:UnspecifiedMatching -orphanet.ordo:274 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS:C0005129 semapv:UnspecifiedMatching -orphanet.ordo:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref OMIM:164900 semapv:UnspecifiedMatching -orphanet.ordo:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref UMLS:C1833872 semapv:UnspecifiedMatching -orphanet.ordo:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref ICD10:H51.2 semapv:UnspecifiedMatching -orphanet.ordo:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref OMIM:165150 semapv:UnspecifiedMatching -orphanet.ordo:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref UMLS:C1833835 semapv:UnspecifiedMatching -orphanet.ordo:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching -orphanet.ordo:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:607313 semapv:UnspecifiedMatching -orphanet.ordo:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:617542 semapv:UnspecifiedMatching -orphanet.ordo:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref UMLS:C1846496 semapv:UnspecifiedMatching -orphanet.ordo:2745 Opitz GBBB syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2745 Opitz GBBB syndrome oboInOwl:hasDbXref OMIM:300000 semapv:UnspecifiedMatching -orphanet.ordo:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2746 Opsismodysplasia oboInOwl:hasDbXref MESH:C537122 semapv:UnspecifiedMatching -orphanet.ordo:2746 Opsismodysplasia oboInOwl:hasDbXref MeSH:C537122 semapv:UnspecifiedMatching -orphanet.ordo:2746 Opsismodysplasia oboInOwl:hasDbXref OMIM:258480 semapv:UnspecifiedMatching -orphanet.ordo:2746 Opsismodysplasia oboInOwl:hasDbXref UMLS:C0432219 semapv:UnspecifiedMatching -orphanet.ordo:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref OMIM:602450 semapv:UnspecifiedMatching -orphanet.ordo:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref UMLS:C1865372 semapv:UnspecifiedMatching -orphanet.ordo:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311200 semapv:UnspecifiedMatching -orphanet.ordo:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C1510460 semapv:UnspecifiedMatching -orphanet.ordo:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538585 semapv:UnspecifiedMatching -orphanet.ordo:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MeSH:C538585 semapv:UnspecifiedMatching -orphanet.ordo:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref OMIM:252100 semapv:UnspecifiedMatching -orphanet.ordo:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C0026363 semapv:UnspecifiedMatching -orphanet.ordo:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref OMIM:258850 semapv:UnspecifiedMatching -orphanet.ordo:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref UMLS:C0406726 semapv:UnspecifiedMatching -orphanet.ordo:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref OMIM:258860 semapv:UnspecifiedMatching -orphanet.ordo:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref UMLS:C0406727 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:277170 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:614815 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:615665 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:617127 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:618763 semapv:UnspecifiedMatching -orphanet.ordo:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref UMLS:C2745997 semapv:UnspecifiedMatching -orphanet.ordo:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref OMIM:300484 semapv:UnspecifiedMatching -orphanet.ordo:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref UMLS:C0796101 semapv:UnspecifiedMatching -orphanet.ordo:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -orphanet.ordo:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching -orphanet.ordo:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref UMLS:C1846545 semapv:UnspecifiedMatching -orphanet.ordo:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -orphanet.ordo:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref OMIM:605233 semapv:UnspecifiedMatching -orphanet.ordo:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref UMLS:C2931071 semapv:UnspecifiedMatching -orphanet.ordo:275543 L1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:275543 L1 syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching -orphanet.ordo:275543 L1 syndrome oboInOwl:hasDbXref OMIM:304100 semapv:UnspecifiedMatching -orphanet.ordo:275543 L1 syndrome oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.1 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.9 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref MedDRA:10036485 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref OMIM:189800 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609402 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609403 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609404 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref OMIM:614595 semapv:UnspecifiedMatching -orphanet.ordo:275555 Preeclampsia oboInOwl:hasDbXref UMLS:C0032914 semapv:UnspecifiedMatching -orphanet.ordo:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref OMIM:165590 semapv:UnspecifiedMatching -orphanet.ordo:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref UMLS:C1833796 semapv:UnspecifiedMatching -orphanet.ordo:275745 Alpha-thalassemia and related disorders oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:275749 Beta-thalassemia and related diseases oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching -orphanet.ordo:275752 Sickle cell disease and related diseases oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching -orphanet.ordo:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching -orphanet.ordo:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref UMLS:C2936797 semapv:UnspecifiedMatching -orphanet.ordo:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching -orphanet.ordo:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10065151 semapv:UnspecifiedMatching -orphanet.ordo:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C3203102 semapv:UnspecifiedMatching -orphanet.ordo:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching -orphanet.ordo:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching -orphanet.ordo:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching -orphanet.ordo:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C0340543 semapv:UnspecifiedMatching -orphanet.ordo:275786 Drug- or toxin-induced pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C0340544 semapv:UnspecifiedMatching -orphanet.ordo:275813 Pulmonary arterial hypertension associated with portal hypertension oboInOwl:hasDbXref UMLS:C1868851 semapv:UnspecifiedMatching -orphanet.ordo:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching -orphanet.ordo:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching -orphanet.ordo:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching -orphanet.ordo:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching -orphanet.ordo:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:619132 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:105550 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:608030 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:612069 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:615911 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:616439 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619141 semapv:UnspecifiedMatching -orphanet.ordo:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref UMLS:C3888102 semapv:UnspecifiedMatching -orphanet.ordo:2759 Imperforate oropharynx-costovertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:275944 Hemolytic disease of the newborn with Kell alloimmunization oboInOwl:hasDbXref ICD10:P55.8 semapv:UnspecifiedMatching -orphanet.ordo:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref OMIM:300400 semapv:UnspecifiedMatching -orphanet.ordo:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref UMLS:C2931540 semapv:UnspecifiedMatching -orphanet.ordo:2760 OSLAM syndrome oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching -orphanet.ordo:2760 OSLAM syndrome oboInOwl:hasDbXref MESH:C537138 semapv:UnspecifiedMatching -orphanet.ordo:2760 OSLAM syndrome oboInOwl:hasDbXref MeSH:C537138 semapv:UnspecifiedMatching -orphanet.ordo:2760 OSLAM syndrome oboInOwl:hasDbXref OMIM:165660 semapv:UnspecifiedMatching -orphanet.ordo:2760 OSLAM syndrome oboInOwl:hasDbXref UMLS:C1833792 semapv:UnspecifiedMatching -orphanet.ordo:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:276142 Rare tumor of salivary glands oboInOwl:hasDbXref UMLS:C0036095 semapv:UnspecifiedMatching -orphanet.ordo:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching -orphanet.ordo:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.0 semapv:UnspecifiedMatching -orphanet.ordo:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.1 semapv:UnspecifiedMatching -orphanet.ordo:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching -orphanet.ordo:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching -orphanet.ordo:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.7 semapv:UnspecifiedMatching -orphanet.ordo:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching -orphanet.ordo:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref OMIM:610755 semapv:UnspecifiedMatching -orphanet.ordo:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref UMLS:C1970712 semapv:UnspecifiedMatching -orphanet.ordo:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref MedDRA:10061299 semapv:UnspecifiedMatching -orphanet.ordo:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref UMLS:C0027662 semapv:UnspecifiedMatching -orphanet.ordo:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref OMIM:613909 semapv:UnspecifiedMatching -orphanet.ordo:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref OMIM:613908 semapv:UnspecifiedMatching -orphanet.ordo:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref OMIM:614153 semapv:UnspecifiedMatching -orphanet.ordo:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref ICD10:M61.5 semapv:UnspecifiedMatching -orphanet.ordo:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref MedDRA:10048902 semapv:UnspecifiedMatching -orphanet.ordo:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 semapv:UnspecifiedMatching -orphanet.ordo:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref UMLS:C0334041 semapv:UnspecifiedMatching -orphanet.ordo:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:606766 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:612997 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:614822 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617576 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617592 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617593 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617965 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618152 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618153 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618429 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618433 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618643 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618664 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618670 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618745 semapv:UnspecifiedMatching -orphanet.ordo:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618751 semapv:UnspecifiedMatching -orphanet.ordo:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref UMLS:C0751668 semapv:UnspecifiedMatching -orphanet.ordo:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref UMLS:C0751669 semapv:UnspecifiedMatching -orphanet.ordo:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref UMLS:C0751670 semapv:UnspecifiedMatching -orphanet.ordo:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching -orphanet.ordo:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:2763 Osteocraniostenosis oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:2763 Osteocraniostenosis oboInOwl:hasDbXref OMIM:602361 semapv:UnspecifiedMatching -orphanet.ordo:2763 Osteocraniostenosis oboInOwl:hasDbXref UMLS:C1865639 semapv:UnspecifiedMatching -orphanet.ordo:276399 Familial multinodular goiter oboInOwl:hasDbXref ICD10:E04.2 semapv:UnspecifiedMatching -orphanet.ordo:276399 Familial multinodular goiter oboInOwl:hasDbXref OMIM:138800 semapv:UnspecifiedMatching -orphanet.ordo:2764 Osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching -orphanet.ordo:2764 Osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:UnspecifiedMatching -orphanet.ordo:2764 Osteochondritis dissecans oboInOwl:hasDbXref MeSH:D010008 semapv:UnspecifiedMatching -orphanet.ordo:2764 Osteochondritis dissecans oboInOwl:hasDbXref MedDRA:10031231 semapv:UnspecifiedMatching -orphanet.ordo:2764 Osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 semapv:UnspecifiedMatching -orphanet.ordo:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:276405 Hyperbiliverdinemia oboInOwl:hasDbXref OMIM:614156 semapv:UnspecifiedMatching -orphanet.ordo:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching -orphanet.ordo:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching -orphanet.ordo:276429 Hypnic headache oboInOwl:hasDbXref UMLS:C0752150 semapv:UnspecifiedMatching -orphanet.ordo:276432 Ogden syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:276432 Ogden syndrome oboInOwl:hasDbXref OMIM:300855 semapv:UnspecifiedMatching -orphanet.ordo:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref OMIM:615048 semapv:UnspecifiedMatching -orphanet.ordo:276525 Familial hyperinsulinism oboInOwl:hasDbXref UMLS:C2931834 semapv:UnspecifiedMatching -orphanet.ordo:276556 Hyperinsulinism due to UCP2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching -orphanet.ordo:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching -orphanet.ordo:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching -orphanet.ordo:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching -orphanet.ordo:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching -orphanet.ordo:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -orphanet.ordo:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching -orphanet.ordo:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref OMIM:127820 semapv:UnspecifiedMatching -orphanet.ordo:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref UMLS:C1300233 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref ICD10:M92.5 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref MESH:C536237 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref MeSH:C536237 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref MedDRA:10072255 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref OMIM:188700 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref OMIM:259200 semapv:UnspecifiedMatching -orphanet.ordo:2768 Blount disease oboInOwl:hasDbXref UMLS:C0175756 semapv:UnspecifiedMatching -orphanet.ordo:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref OMIM:259250 semapv:UnspecifiedMatching -orphanet.ordo:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref UMLS:C1850186 semapv:UnspecifiedMatching -orphanet.ordo:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref ICD10:D81.3 semapv:UnspecifiedMatching -orphanet.ordo:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MESH:C531816 semapv:UnspecifiedMatching -orphanet.ordo:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MeSH:C531816 semapv:UnspecifiedMatching -orphanet.ordo:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MedDRA:10066367 semapv:UnspecifiedMatching -orphanet.ordo:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref OMIM:102700 semapv:UnspecifiedMatching -orphanet.ordo:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref UMLS:C0392607 semapv:UnspecifiedMatching -orphanet.ordo:2770 Nasu-Hakola disease oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:2770 Nasu-Hakola disease oboInOwl:hasDbXref MESH:C536329 semapv:UnspecifiedMatching -orphanet.ordo:2770 Nasu-Hakola disease oboInOwl:hasDbXref MeSH:C536329 semapv:UnspecifiedMatching -orphanet.ordo:2770 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:221770 semapv:UnspecifiedMatching -orphanet.ordo:2770 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:618193 semapv:UnspecifiedMatching -orphanet.ordo:2770 Nasu-Hakola disease oboInOwl:hasDbXref UMLS:C1857316 semapv:UnspecifiedMatching -orphanet.ordo:2771 Bruck syndrome oboInOwl:hasDbXref ICD10:M21.8 semapv:UnspecifiedMatching -orphanet.ordo:2771 Bruck syndrome oboInOwl:hasDbXref MedDRA:10063718 semapv:UnspecifiedMatching -orphanet.ordo:2771 Bruck syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching -orphanet.ordo:2771 Bruck syndrome oboInOwl:hasDbXref OMIM:609220 semapv:UnspecifiedMatching -orphanet.ordo:2771 Bruck syndrome oboInOwl:hasDbXref UMLS:C0432253 semapv:UnspecifiedMatching -orphanet.ordo:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref MESH:C537558 semapv:UnspecifiedMatching -orphanet.ordo:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref MeSH:C537558 semapv:UnspecifiedMatching -orphanet.ordo:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref OMIM:259410 semapv:UnspecifiedMatching -orphanet.ordo:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref UMLS:C1850184 semapv:UnspecifiedMatching -orphanet.ordo:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref OMIM:166300 semapv:UnspecifiedMatching -orphanet.ordo:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref UMLS:C2674705 semapv:UnspecifiedMatching -orphanet.ordo:2775 Autosomal recessive carpotarsal osteolysis oboInOwl:hasDbXref UMLS:C1850155 semapv:UnspecifiedMatching -orphanet.ordo:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref OMIM:259610 semapv:UnspecifiedMatching -orphanet.ordo:2777 Osteomesopyknosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:2777 Osteomesopyknosis oboInOwl:hasDbXref OMIM:166450 semapv:UnspecifiedMatching -orphanet.ordo:2777 Osteomesopyknosis oboInOwl:hasDbXref UMLS:C0432264 semapv:UnspecifiedMatching -orphanet.ordo:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching -orphanet.ordo:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref UMLS:C2931096 semapv:UnspecifiedMatching -orphanet.ordo:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref MESH:C536053 semapv:UnspecifiedMatching -orphanet.ordo:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref MeSH:C536053 semapv:UnspecifiedMatching -orphanet.ordo:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching -orphanet.ordo:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref UMLS:C0432268 semapv:UnspecifiedMatching -orphanet.ordo:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching -orphanet.ordo:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MeSH:D010022 semapv:UnspecifiedMatching -orphanet.ordo:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MedDRA:10031280 semapv:UnspecifiedMatching -orphanet.ordo:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref UMLS:C0029454 semapv:UnspecifiedMatching -orphanet.ordo:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref MESH:C536056 semapv:UnspecifiedMatching -orphanet.ordo:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref MeSH:C536056 semapv:UnspecifiedMatching -orphanet.ordo:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref OMIM:607634 semapv:UnspecifiedMatching -orphanet.ordo:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref UMLS:C1843330 semapv:UnspecifiedMatching -orphanet.ordo:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref MESH:C536058 semapv:UnspecifiedMatching -orphanet.ordo:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref MeSH:C536058 semapv:UnspecifiedMatching -orphanet.ordo:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:259730 semapv:UnspecifiedMatching -orphanet.ordo:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching -orphanet.ordo:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref UMLS:C1849435 semapv:UnspecifiedMatching -orphanet.ordo:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref OMIM:601220 semapv:UnspecifiedMatching -orphanet.ordo:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref UMLS:C1832592 semapv:UnspecifiedMatching -orphanet.ordo:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 semapv:UnspecifiedMatching -orphanet.ordo:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MeSH:C536063 semapv:UnspecifiedMatching -orphanet.ordo:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MedDRA:10052452 semapv:UnspecifiedMatching -orphanet.ordo:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching -orphanet.ordo:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS:C0432252 semapv:UnspecifiedMatching -orphanet.ordo:2789 Lateral meningocele syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2789 Lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching -orphanet.ordo:2789 Lateral meningocele syndrome oboInOwl:hasDbXref UMLS:C1851710 semapv:UnspecifiedMatching -orphanet.ordo:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -orphanet.ordo:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching -orphanet.ordo:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref UMLS:C0432273 semapv:UnspecifiedMatching -orphanet.ordo:2791 Otodental syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching -orphanet.ordo:2791 Otodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:UnspecifiedMatching -orphanet.ordo:2791 Otodental syndrome oboInOwl:hasDbXref UMLS:C1833693 semapv:UnspecifiedMatching -orphanet.ordo:2792 Otofaciocervical syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2792 Otofaciocervical syndrome oboInOwl:hasDbXref OMIM:166780 semapv:UnspecifiedMatching -orphanet.ordo:2792 Otofaciocervical syndrome oboInOwl:hasDbXref OMIM:615560 semapv:UnspecifiedMatching -orphanet.ordo:2792 Otofaciocervical syndrome oboInOwl:hasDbXref UMLS:C1833691 semapv:UnspecifiedMatching -orphanet.ordo:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref OMIM:259780 semapv:UnspecifiedMatching -orphanet.ordo:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref UMLS:C1850105 semapv:UnspecifiedMatching -orphanet.ordo:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching -orphanet.ordo:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.1 semapv:UnspecifiedMatching -orphanet.ordo:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.2 semapv:UnspecifiedMatching -orphanet.ordo:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching -orphanet.ordo:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref ICD10:N39.8 semapv:UnspecifiedMatching -orphanet.ordo:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref UMLS:C2931462 semapv:UnspecifiedMatching -orphanet.ordo:2796 Pachydermoperiostosis oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching -orphanet.ordo:2796 Pachydermoperiostosis oboInOwl:hasDbXref MedDRA:10051686 semapv:UnspecifiedMatching -orphanet.ordo:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:167100 semapv:UnspecifiedMatching -orphanet.ordo:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching -orphanet.ordo:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:614441 semapv:UnspecifiedMatching -orphanet.ordo:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:600176 semapv:UnspecifiedMatching -orphanet.ordo:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref UMLS:C1838491 semapv:UnspecifiedMatching -orphanet.ordo:279882 Spasmus nutans oboInOwl:hasDbXref ICD10:F98.4 semapv:UnspecifiedMatching -orphanet.ordo:279882 Spasmus nutans oboInOwl:hasDbXref MedDRA:10059593 semapv:UnspecifiedMatching -orphanet.ordo:279882 Spasmus nutans oboInOwl:hasDbXref UMLS:C1527306 semapv:UnspecifiedMatching -orphanet.ordo:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching -orphanet.ordo:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching -orphanet.ordo:279888 Acute endophthalmitis oboInOwl:hasDbXref MedDRA:10000730 semapv:UnspecifiedMatching -orphanet.ordo:279888 Acute endophthalmitis oboInOwl:hasDbXref UMLS:C0154773 semapv:UnspecifiedMatching -orphanet.ordo:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching -orphanet.ordo:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching -orphanet.ordo:279891 Chronic endophthalmitis oboInOwl:hasDbXref MedDRA:10008864 semapv:UnspecifiedMatching -orphanet.ordo:279891 Chronic endophthalmitis oboInOwl:hasDbXref UMLS:C0154774 semapv:UnspecifiedMatching -orphanet.ordo:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -orphanet.ordo:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:T37.2 semapv:UnspecifiedMatching -orphanet.ordo:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:279904 Primary intraocular lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:279904 Primary intraocular lymphoma oboInOwl:hasDbXref UMLS:C0281658 semapv:UnspecifiedMatching -orphanet.ordo:279914 Intermediate uveitis oboInOwl:hasDbXref ICD10:H30.2 semapv:UnspecifiedMatching -orphanet.ordo:279914 Intermediate uveitis oboInOwl:hasDbXref MedDRA:10022557 semapv:UnspecifiedMatching -orphanet.ordo:279914 Intermediate uveitis oboInOwl:hasDbXref UMLS:C0042166 semapv:UnspecifiedMatching -orphanet.ordo:279919 Infectious posterior uveitis oboInOwl:hasDbXref ICD10:H32.0 semapv:UnspecifiedMatching -orphanet.ordo:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching -orphanet.ordo:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching -orphanet.ordo:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching -orphanet.ordo:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching -orphanet.ordo:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching -orphanet.ordo:279925 Infectious panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching -orphanet.ordo:279928 Paraneoplastic uveitis oboInOwl:hasDbXref ICD10:H57.8 semapv:UnspecifiedMatching -orphanet.ordo:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref OMIM:251880 semapv:UnspecifiedMatching -orphanet.ordo:279943 Hereditary neutrophilia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -orphanet.ordo:279943 Hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 semapv:UnspecifiedMatching -orphanet.ordo:279943 Hereditary neutrophilia oboInOwl:hasDbXref UMLS:C0543669 semapv:UnspecifiedMatching -orphanet.ordo:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref ICD10:F52.3 semapv:UnspecifiedMatching -orphanet.ordo:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching -orphanet.ordo:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching -orphanet.ordo:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MESH:C536740 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MESH:D054877 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MeSH:C536740 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MeSH:D054877 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MedDRA:10050361 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching -orphanet.ordo:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C1956097 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref ICD10:C44.5 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref MESH:D010145 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref MeSH:D010145 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref MedDRA:10033366 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref MedDRA:10068223 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref OMIM:167300 semapv:UnspecifiedMatching -orphanet.ordo:2800 Extramammary Paget disease oboInOwl:hasDbXref UMLS:C0030186 semapv:UnspecifiedMatching -orphanet.ordo:280062 Calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:280062 Calciphylaxis oboInOwl:hasDbXref MedDRA:10051714 semapv:UnspecifiedMatching -orphanet.ordo:280062 Calciphylaxis oboInOwl:hasDbXref UMLS:C0006666 semapv:UnspecifiedMatching -orphanet.ordo:280065 Calciphylaxis cutis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:280068 Visceral calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:280071 ALG11-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:280071 ALG11-CDG oboInOwl:hasDbXref OMIM:613661 semapv:UnspecifiedMatching -orphanet.ordo:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching -orphanet.ordo:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching -orphanet.ordo:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.9 semapv:UnspecifiedMatching -orphanet.ordo:2801 Juvenile Paget disease oboInOwl:hasDbXref OMIM:239000 semapv:UnspecifiedMatching -orphanet.ordo:2801 Juvenile Paget disease oboInOwl:hasDbXref UMLS:C0268414 semapv:UnspecifiedMatching -orphanet.ordo:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching -orphanet.ordo:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching -orphanet.ordo:280133 Complement component 3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:280133 Complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 semapv:UnspecifiedMatching -orphanet.ordo:280133 Complement component 3 deficiency oboInOwl:hasDbXref UMLS:C3151071 semapv:UnspecifiedMatching -orphanet.ordo:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref OMIM:615758 semapv:UnspecifiedMatching -orphanet.ordo:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref OMIM:613646 semapv:UnspecifiedMatching -orphanet.ordo:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref OMIM:301310 semapv:UnspecifiedMatching -orphanet.ordo:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1845028 semapv:UnspecifiedMatching -orphanet.ordo:280200 Microform holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching -orphanet.ordo:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:280205 Laryngotracheoesophageal cleft type 0 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching -orphanet.ordo:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref UMLS:C0751916 semapv:UnspecifiedMatching -orphanet.ordo:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref UMLS:C0751917 semapv:UnspecifiedMatching -orphanet.ordo:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280234 Null syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280234 Null syndrome oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching -orphanet.ordo:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching -orphanet.ordo:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching -orphanet.ordo:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching -orphanet.ordo:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching -orphanet.ordo:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching -orphanet.ordo:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref UMLS:C1837355 semapv:UnspecifiedMatching -orphanet.ordo:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching -orphanet.ordo:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching -orphanet.ordo:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching -orphanet.ordo:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching -orphanet.ordo:280325 Distal deletion 12p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref OMIM:613818 semapv:UnspecifiedMatching -orphanet.ordo:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:613877 semapv:UnspecifiedMatching -orphanet.ordo:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching -orphanet.ordo:2804 W syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2804 W syndrome oboInOwl:hasDbXref OMIM:311450 semapv:UnspecifiedMatching -orphanet.ordo:2804 W syndrome oboInOwl:hasDbXref UMLS:C0796110 semapv:UnspecifiedMatching -orphanet.ordo:280403 Familial omphalocele syndrome with facial dysmorphism oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching -orphanet.ordo:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref OMIM:614650 semapv:UnspecifiedMatching -orphanet.ordo:2805 Partial pancreatic agenesis oboInOwl:hasDbXref ICD10:Q45.0 semapv:UnspecifiedMatching -orphanet.ordo:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:167755 semapv:UnspecifiedMatching -orphanet.ordo:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching -orphanet.ordo:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:615935 semapv:UnspecifiedMatching -orphanet.ordo:2805 Partial pancreatic agenesis oboInOwl:hasDbXref UMLS:C1850096 semapv:UnspecifiedMatching -orphanet.ordo:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref OMIM:613869 semapv:UnspecifiedMatching -orphanet.ordo:280558 Warsaw breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:280558 Warsaw breakage syndrome oboInOwl:hasDbXref OMIM:613398 semapv:UnspecifiedMatching -orphanet.ordo:280576 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:280576 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref OMIM:614008 semapv:UnspecifiedMatching -orphanet.ordo:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching -orphanet.ordo:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref OMIM:614078 semapv:UnspecifiedMatching -orphanet.ordo:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref OMIM:608895 semapv:UnspecifiedMatching -orphanet.ordo:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref ICD10:A81.1 semapv:UnspecifiedMatching -orphanet.ordo:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching -orphanet.ordo:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching -orphanet.ordo:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref OMIM:613977 semapv:UnspecifiedMatching -orphanet.ordo:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref OMIM:614018 semapv:UnspecifiedMatching -orphanet.ordo:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching -orphanet.ordo:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching -orphanet.ordo:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref UMLS:C1840392 semapv:UnspecifiedMatching -orphanet.ordo:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref OMIM:614080 semapv:UnspecifiedMatching -orphanet.ordo:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref OMIM:614115 semapv:UnspecifiedMatching -orphanet.ordo:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching -orphanet.ordo:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching -orphanet.ordo:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching -orphanet.ordo:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref OMIM:602541 semapv:UnspecifiedMatching -orphanet.ordo:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1865233 semapv:UnspecifiedMatching -orphanet.ordo:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:300845 semapv:UnspecifiedMatching -orphanet.ordo:2807 Papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching -orphanet.ordo:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MESH:D020288 semapv:UnspecifiedMatching -orphanet.ordo:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MeSH:D020288 semapv:UnspecifiedMatching -orphanet.ordo:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MedDRA:10008777 semapv:UnspecifiedMatching -orphanet.ordo:2807 Papilloma of choroid plexus oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching -orphanet.ordo:2807 Papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C0205770 semapv:UnspecifiedMatching -orphanet.ordo:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:612936 semapv:UnspecifiedMatching -orphanet.ordo:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:613744 semapv:UnspecifiedMatching -orphanet.ordo:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614066 semapv:UnspecifiedMatching -orphanet.ordo:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614067 semapv:UnspecifiedMatching -orphanet.ordo:280774 Generalized essential telangiectasia oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:280774 Generalized essential telangiectasia oboInOwl:hasDbXref UMLS:C0473555 semapv:UnspecifiedMatching -orphanet.ordo:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref UMLS:C4305323 semapv:UnspecifiedMatching -orphanet.ordo:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching -orphanet.ordo:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref OMIM:150260 semapv:UnspecifiedMatching -orphanet.ordo:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref UMLS:C0396059 semapv:UnspecifiedMatching -orphanet.ordo:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching -orphanet.ordo:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching -orphanet.ordo:280821 Communicating congenital bronchopulmonary-foregut malformation oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching -orphanet.ordo:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching -orphanet.ordo:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching -orphanet.ordo:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching -orphanet.ordo:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching -orphanet.ordo:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching -orphanet.ordo:280886 Anterior uveitis oboInOwl:hasDbXref MedDRA:10002709 semapv:UnspecifiedMatching -orphanet.ordo:280886 Anterior uveitis oboInOwl:hasDbXref UMLS:C0042165 semapv:UnspecifiedMatching -orphanet.ordo:280892 Posterior uveitis oboInOwl:hasDbXref MedDRA:10036370 semapv:UnspecifiedMatching -orphanet.ordo:280892 Posterior uveitis oboInOwl:hasDbXref UMLS:C0042167 semapv:UnspecifiedMatching -orphanet.ordo:280898 Panuveitis oboInOwl:hasDbXref MedDRA:10033687 semapv:UnspecifiedMatching -orphanet.ordo:280898 Panuveitis oboInOwl:hasDbXref UMLS:C0030343 semapv:UnspecifiedMatching -orphanet.ordo:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching -orphanet.ordo:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref OMIM:134200 semapv:UnspecifiedMatching -orphanet.ordo:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref UMLS:C1851399 semapv:UnspecifiedMatching -orphanet.ordo:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching -orphanet.ordo:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching -orphanet.ordo:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching -orphanet.ordo:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching -orphanet.ordo:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching -orphanet.ordo:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref ICD10:H30.9 semapv:UnspecifiedMatching -orphanet.ordo:280921 Idiopathic panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref ICD10:Q93.4 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref MESH:C538482 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref MeSH:C538482 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref MeSH:D003410 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref MedDRA:10011385 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref OMIM:123450 semapv:UnspecifiedMatching -orphanet.ordo:281 Monosomy 5p oboInOwl:hasDbXref UMLS:C2931860 semapv:UnspecifiedMatching -orphanet.ordo:2810 NON RARE IN EUROPE: Idiopathic facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching -orphanet.ordo:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching -orphanet.ordo:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching -orphanet.ordo:281122 Self-improving collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching -orphanet.ordo:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching -orphanet.ordo:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching -orphanet.ordo:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching -orphanet.ordo:281122 Self-improving collodion baby oboInOwl:hasDbXref UMLS:C1855789 semapv:UnspecifiedMatching -orphanet.ordo:281127 Acral self-healing collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching -orphanet.ordo:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching -orphanet.ordo:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 semapv:UnspecifiedMatching -orphanet.ordo:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:620148 semapv:UnspecifiedMatching -orphanet.ordo:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:609165 semapv:UnspecifiedMatching -orphanet.ordo:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C3665704 semapv:UnspecifiedMatching -orphanet.ordo:2812 Parana hard skin syndrome oboInOwl:hasDbXref ICD10:L91.8 semapv:UnspecifiedMatching -orphanet.ordo:2812 Parana hard skin syndrome oboInOwl:hasDbXref OMIM:260530 semapv:UnspecifiedMatching -orphanet.ordo:2812 Parana hard skin syndrome oboInOwl:hasDbXref UMLS:C1850079 semapv:UnspecifiedMatching -orphanet.ordo:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref OMIM:601952 semapv:UnspecifiedMatching -orphanet.ordo:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref UMLS:C1866029 semapv:UnspecifiedMatching -orphanet.ordo:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching -orphanet.ordo:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref MedDRA:10048063 semapv:UnspecifiedMatching -orphanet.ordo:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref UMLS:C0079588 semapv:UnspecifiedMatching -orphanet.ordo:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref OMIM:312910 semapv:UnspecifiedMatching -orphanet.ordo:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref UMLS:C2931291 semapv:UnspecifiedMatching -orphanet.ordo:2816 Spastic paraplegia-epilepsy-intellectual disability syndrome oboInOwl:hasDbXref OMIM:182610 semapv:UnspecifiedMatching -orphanet.ordo:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270850 semapv:UnspecifiedMatching -orphanet.ordo:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1849113 semapv:UnspecifiedMatching -orphanet.ordo:2819 Spastic paraplegia-facial-cutaneous lesions syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2819 Spastic paraplegia-facial-cutaneous lesions syndrome oboInOwl:hasDbXref UMLS:C2931617 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref MESH:D057180 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref MeSH:D057180 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref MedDRA:10068968 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching -orphanet.ordo:282 Frontotemporal dementia oboInOwl:hasDbXref UMLS:C0338451 semapv:UnspecifiedMatching -orphanet.ordo:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref OMIM:182690 semapv:UnspecifiedMatching -orphanet.ordo:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref UMLS:C2931667 semapv:UnspecifiedMatching -orphanet.ordo:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref MESH:C536870 semapv:UnspecifiedMatching -orphanet.ordo:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref MeSH:C536870 semapv:UnspecifiedMatching -orphanet.ordo:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref OMIM:182815 semapv:UnspecifiedMatching -orphanet.ordo:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref UMLS:C1866851 semapv:UnspecifiedMatching -orphanet.ordo:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching -orphanet.ordo:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching -orphanet.ordo:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching -orphanet.ordo:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref UMLS:C0085409 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MESH:C537483 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MESH:C538335 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MeSH:C537483 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MeSH:C538335 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref OMIM:604360 semapv:UnspecifiedMatching -orphanet.ordo:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref UMLS:C2931821 semapv:UnspecifiedMatching -orphanet.ordo:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching -orphanet.ordo:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:309560 semapv:UnspecifiedMatching -orphanet.ordo:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref UMLS:C2745996 semapv:UnspecifiedMatching -orphanet.ordo:2825 PARC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2825 PARC syndrome oboInOwl:hasDbXref MESH:C537174 semapv:UnspecifiedMatching -orphanet.ordo:2825 PARC syndrome oboInOwl:hasDbXref MeSH:C537174 semapv:UnspecifiedMatching -orphanet.ordo:2825 PARC syndrome oboInOwl:hasDbXref OMIM:600331 semapv:UnspecifiedMatching -orphanet.ordo:2825 PARC syndrome oboInOwl:hasDbXref UMLS:C1838256 semapv:UnspecifiedMatching -orphanet.ordo:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref MESH:C536874 semapv:UnspecifiedMatching -orphanet.ordo:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref MeSH:C536874 semapv:UnspecifiedMatching -orphanet.ordo:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref OMIM:182820 semapv:UnspecifiedMatching -orphanet.ordo:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref UMLS:C1866850 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:300557 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:600116 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:602404 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:605909 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:606324 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:606852 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:610297 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:613643 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching -orphanet.ordo:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:616840 semapv:UnspecifiedMatching -orphanet.ordo:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2829 Partington-Anderson syndrome oboInOwl:hasDbXref MESH:C536299 semapv:UnspecifiedMatching -orphanet.ordo:2829 Partington-Anderson syndrome oboInOwl:hasDbXref MeSH:C536299 semapv:UnspecifiedMatching -orphanet.ordo:2829 Partington-Anderson syndrome oboInOwl:hasDbXref OMIM:260555 semapv:UnspecifiedMatching -orphanet.ordo:2829 Partington-Anderson syndrome oboInOwl:hasDbXref UMLS:C1850075 semapv:UnspecifiedMatching -orphanet.ordo:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 semapv:UnspecifiedMatching -orphanet.ordo:283 Demodicidosis oboInOwl:hasDbXref UMLS:C3854478 semapv:UnspecifiedMatching -orphanet.ordo:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref MESH:C537609 semapv:UnspecifiedMatching -orphanet.ordo:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref MeSH:C537609 semapv:UnspecifiedMatching -orphanet.ordo:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref OMIM:601438 semapv:UnspecifiedMatching -orphanet.ordo:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref UMLS:C1832359 semapv:UnspecifiedMatching -orphanet.ordo:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref OMIM:600269 semapv:UnspecifiedMatching -orphanet.ordo:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref UMLS:C1838328 semapv:UnspecifiedMatching -orphanet.ordo:2833 Stiff skin syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:184900 semapv:UnspecifiedMatching -orphanet.ordo:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:228020 semapv:UnspecifiedMatching -orphanet.ordo:2833 Stiff skin syndrome oboInOwl:hasDbXref UMLS:C1861456 semapv:UnspecifiedMatching -orphanet.ordo:2834 Wrinkly skin syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2834 Wrinkly skin syndrome oboInOwl:hasDbXref MESH:C536750 semapv:UnspecifiedMatching -orphanet.ordo:2834 Wrinkly skin syndrome oboInOwl:hasDbXref MeSH:C536750 semapv:UnspecifiedMatching -orphanet.ordo:2834 Wrinkly skin syndrome oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching -orphanet.ordo:2834 Wrinkly skin syndrome oboInOwl:hasDbXref UMLS:C0406587 semapv:UnspecifiedMatching -orphanet.ordo:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref OMIM:600399 semapv:UnspecifiedMatching -orphanet.ordo:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref UMLS:C2931302 semapv:UnspecifiedMatching -orphanet.ordo:2836 PEHO syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:2836 PEHO syndrome oboInOwl:hasDbXref MESH:C536317 semapv:UnspecifiedMatching -orphanet.ordo:2836 PEHO syndrome oboInOwl:hasDbXref MeSH:C536317 semapv:UnspecifiedMatching -orphanet.ordo:2836 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching -orphanet.ordo:2836 PEHO syndrome oboInOwl:hasDbXref UMLS:C1850055 semapv:UnspecifiedMatching -orphanet.ordo:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref OMIM:260650 semapv:UnspecifiedMatching -orphanet.ordo:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching -orphanet.ordo:28378 Tyrosinemia type 2 oboInOwl:hasDbXref MedDRA:10069463 semapv:UnspecifiedMatching -orphanet.ordo:28378 Tyrosinemia type 2 oboInOwl:hasDbXref OMIM:276600 semapv:UnspecifiedMatching -orphanet.ordo:28378 Tyrosinemia type 2 oboInOwl:hasDbXref UMLS:C0268487 semapv:UnspecifiedMatching -orphanet.ordo:2838 Renal caliceal diverticuli-deafness syndrome oboInOwl:hasDbXref ICD10:Q64.8 semapv:UnspecifiedMatching -orphanet.ordo:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref OMIM:169550 semapv:UnspecifiedMatching -orphanet.ordo:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref UMLS:C1868508 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.7 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref MESH:C536591 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref MeSH:C536591 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref MedDRA:10053042 semapv:UnspecifiedMatching -orphanet.ordo:284 Alveolar echinococcosis oboInOwl:hasDbXref UMLS:C0948954 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref MESH:C535292 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref MESH:C535548 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref MeSH:C535292 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref MeSH:C535548 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref OMIM:602484 semapv:UnspecifiedMatching -orphanet.ordo:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref UMLS:C2930869 semapv:UnspecifiedMatching -orphanet.ordo:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching -orphanet.ordo:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching -orphanet.ordo:284130 NON RARE IN EUROPE: Rheumatoid arthritis oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching -orphanet.ordo:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref OMIM:245600 semapv:UnspecifiedMatching -orphanet.ordo:284149 Craniosynostosis-dental anomalies oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:284149 Craniosynostosis-dental anomalies oboInOwl:hasDbXref OMIM:614188 semapv:UnspecifiedMatching -orphanet.ordo:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref OMIM:614230 semapv:UnspecifiedMatching -orphanet.ordo:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching -orphanet.ordo:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:2842 Penoscrotal transposition oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching -orphanet.ordo:2842 Penoscrotal transposition oboInOwl:hasDbXref MESH:C536650 semapv:UnspecifiedMatching -orphanet.ordo:2842 Penoscrotal transposition oboInOwl:hasDbXref MeSH:C536650 semapv:UnspecifiedMatching -orphanet.ordo:2842 Penoscrotal transposition oboInOwl:hasDbXref MedDRA:10067287 semapv:UnspecifiedMatching -orphanet.ordo:2842 Penoscrotal transposition oboInOwl:hasDbXref UMLS:C1868854 semapv:UnspecifiedMatching -orphanet.ordo:284227 TEMPI syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:284227 TEMPI syndrome oboInOwl:hasDbXref UMLS:C3854394 semapv:UnspecifiedMatching -orphanet.ordo:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref OMIM:614228 semapv:UnspecifiedMatching -orphanet.ordo:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref OMIM:614224 semapv:UnspecifiedMatching -orphanet.ordo:284264 IgG4-related disease oboInOwl:hasDbXref MedDRA:10071569 semapv:UnspecifiedMatching -orphanet.ordo:284264 IgG4-related disease oboInOwl:hasDbXref UMLS:C3203653 semapv:UnspecifiedMatching -orphanet.ordo:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref OMIM:614229 semapv:UnspecifiedMatching -orphanet.ordo:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref OMIM:614322 semapv:UnspecifiedMatching -orphanet.ordo:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:613728 semapv:UnspecifiedMatching -orphanet.ordo:2843 Pentosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:2843 Pentosuria oboInOwl:hasDbXref MESH:C536652 semapv:UnspecifiedMatching -orphanet.ordo:2843 Pentosuria oboInOwl:hasDbXref MeSH:C536652 semapv:UnspecifiedMatching -orphanet.ordo:2843 Pentosuria oboInOwl:hasDbXref MedDRA:10064170 semapv:UnspecifiedMatching -orphanet.ordo:2843 Pentosuria oboInOwl:hasDbXref OMIM:260800 semapv:UnspecifiedMatching -orphanet.ordo:2843 Pentosuria oboInOwl:hasDbXref UMLS:C0268162 semapv:UnspecifiedMatching -orphanet.ordo:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref OMIM:609270 semapv:UnspecifiedMatching -orphanet.ordo:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1836474 semapv:UnspecifiedMatching -orphanet.ordo:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching -orphanet.ordo:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C1842676 semapv:UnspecifiedMatching -orphanet.ordo:284339 Pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:284339 Pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref OMIM:614969 semapv:UnspecifiedMatching -orphanet.ordo:284343 DICER1 tumor-predisposition syndrome oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:284343 DICER1 tumor-predisposition syndrome oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching -orphanet.ordo:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref ICD10:D14.3 semapv:UnspecifiedMatching -orphanet.ordo:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref UMLS:C3544214 semapv:UnspecifiedMatching -orphanet.ordo:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching -orphanet.ordo:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 semapv:UnspecifiedMatching -orphanet.ordo:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching -orphanet.ordo:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching -orphanet.ordo:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:610992 semapv:UnspecifiedMatching -orphanet.ordo:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref UMLS:C1970253 semapv:UnspecifiedMatching -orphanet.ordo:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref OMIM:612933 semapv:UnspecifiedMatching -orphanet.ordo:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref UMLS:C2931743 semapv:UnspecifiedMatching -orphanet.ordo:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref OMIM:614128 semapv:UnspecifiedMatching -orphanet.ordo:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref UMLS:C3279904 semapv:UnspecifiedMatching -orphanet.ordo:284448 CLIPPERS oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:284448 CLIPPERS oboInOwl:hasDbXref UMLS:C3854437 semapv:UnspecifiedMatching -orphanet.ordo:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref UMLS:C0730298 semapv:UnspecifiedMatching -orphanet.ordo:284460 Acute annular outer retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching -orphanet.ordo:2846 Congenital pericardium anomaly oboInOwl:hasDbXref UMLS:C0685699 semapv:UnspecifiedMatching -orphanet.ordo:2847 Pericardial and diaphragmatic defect oboInOwl:hasDbXref ICD10:Q79.1 semapv:UnspecifiedMatching -orphanet.ordo:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref ICD10:M12.8 semapv:UnspecifiedMatching -orphanet.ordo:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 semapv:UnspecifiedMatching -orphanet.ordo:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref UMLS:C1859690 semapv:UnspecifiedMatching -orphanet.ordo:284804 Ocular albinism oboInOwl:hasDbXref MedDRA:10065276 semapv:UnspecifiedMatching -orphanet.ordo:284804 Ocular albinism oboInOwl:hasDbXref UMLS:C0078917 semapv:UnspecifiedMatching -orphanet.ordo:284814 Disorder of phenylalanine metabolism oboInOwl:hasDbXref UMLS:C0268461 semapv:UnspecifiedMatching -orphanet.ordo:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching -orphanet.ordo:2849 Perlman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:2849 Perlman syndrome oboInOwl:hasDbXref OMIM:267000 semapv:UnspecifiedMatching -orphanet.ordo:2849 Perlman syndrome oboInOwl:hasDbXref UMLS:C0796113 semapv:UnspecifiedMatching -orphanet.ordo:284963 Marfan syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:284963 Marfan syndrome type 1 oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching -orphanet.ordo:284973 Marfan syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:284973 Marfan syndrome type 2 oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching -orphanet.ordo:284973 Marfan syndrome type 2 oboInOwl:hasDbXref UMLS:C2931058 semapv:UnspecifiedMatching -orphanet.ordo:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref OMIM:613795 semapv:UnspecifiedMatching -orphanet.ordo:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching -orphanet.ordo:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268337 semapv:UnspecifiedMatching -orphanet.ordo:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:203650 semapv:UnspecifiedMatching -orphanet.ordo:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:610422 semapv:UnspecifiedMatching -orphanet.ordo:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:613930 semapv:UnspecifiedMatching -orphanet.ordo:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618840 semapv:UnspecifiedMatching -orphanet.ordo:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931280 semapv:UnspecifiedMatching -orphanet.ordo:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref MESH:C537586 semapv:UnspecifiedMatching -orphanet.ordo:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref MeSH:C537586 semapv:UnspecifiedMatching -orphanet.ordo:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref UMLS:C1838257 semapv:UnspecifiedMatching -orphanet.ordo:2854 Fuhrmann syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2854 Fuhrmann syndrome oboInOwl:hasDbXref MESH:C538189 semapv:UnspecifiedMatching -orphanet.ordo:2854 Fuhrmann syndrome oboInOwl:hasDbXref MeSH:C538189 semapv:UnspecifiedMatching -orphanet.ordo:2854 Fuhrmann syndrome oboInOwl:hasDbXref OMIM:228930 semapv:UnspecifiedMatching -orphanet.ordo:2854 Fuhrmann syndrome oboInOwl:hasDbXref UMLS:C1856728 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:233400 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:614129 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:614926 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:615300 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:616138 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:617565 semapv:UnspecifiedMatching -orphanet.ordo:2855 Perrault syndrome oboInOwl:hasDbXref UMLS:C0685838 semapv:UnspecifiedMatching -orphanet.ordo:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching -orphanet.ordo:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref MESH:C536665 semapv:UnspecifiedMatching -orphanet.ordo:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref MeSH:C536665 semapv:UnspecifiedMatching -orphanet.ordo:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref OMIM:261550 semapv:UnspecifiedMatching -orphanet.ordo:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref UMLS:C1849930 semapv:UnspecifiedMatching -orphanet.ordo:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 semapv:UnspecifiedMatching -orphanet.ordo:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268338 semapv:UnspecifiedMatching -orphanet.ordo:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref OMIM:185120 semapv:UnspecifiedMatching -orphanet.ordo:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref UMLS:C1861448 semapv:UnspecifiedMatching -orphanet.ordo:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref UMLS:C2930950 semapv:UnspecifiedMatching -orphanet.ordo:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2867 Short stature, Brussels type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2867 Short stature, Brussels type oboInOwl:hasDbXref MESH:C537121 semapv:UnspecifiedMatching -orphanet.ordo:2867 Short stature, Brussels type oboInOwl:hasDbXref MeSH:C537121 semapv:UnspecifiedMatching -orphanet.ordo:2867 Short stature, Brussels type oboInOwl:hasDbXref OMIM:601350 semapv:UnspecifiedMatching -orphanet.ordo:2867 Short stature, Brussels type oboInOwl:hasDbXref UMLS:C1832439 semapv:UnspecifiedMatching -orphanet.ordo:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref OMIM:126190 semapv:UnspecifiedMatching -orphanet.ordo:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:UnspecifiedMatching -orphanet.ordo:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MeSH:D010580 semapv:UnspecifiedMatching -orphanet.ordo:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MedDRA:10034764 semapv:UnspecifiedMatching -orphanet.ordo:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 semapv:UnspecifiedMatching -orphanet.ordo:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0031269 semapv:UnspecifiedMatching -orphanet.ordo:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130000 semapv:UnspecifiedMatching -orphanet.ordo:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130010 semapv:UnspecifiedMatching -orphanet.ordo:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0220679 semapv:UnspecifiedMatching -orphanet.ordo:2870 NON RARE IN EUROPE: Peyronie syndrome oboInOwl:hasDbXref ICD10:N48.6 semapv:UnspecifiedMatching -orphanet.ordo:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref MESH:C537889 semapv:UnspecifiedMatching -orphanet.ordo:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref MeSH:C537889 semapv:UnspecifiedMatching -orphanet.ordo:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref OMIM:261560 semapv:UnspecifiedMatching -orphanet.ordo:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref UMLS:C1849929 semapv:UnspecifiedMatching -orphanet.ordo:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref OMIM:218450 semapv:UnspecifiedMatching -orphanet.ordo:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref MESH:C537893 semapv:UnspecifiedMatching -orphanet.ordo:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref MeSH:C537893 semapv:UnspecifiedMatching -orphanet.ordo:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref UMLS:C2931658 semapv:UnspecifiedMatching -orphanet.ordo:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref UMLS:C1274879 semapv:UnspecifiedMatching -orphanet.ordo:2876 PHAVER syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2876 PHAVER syndrome oboInOwl:hasDbXref OMIM:261575 semapv:UnspecifiedMatching -orphanet.ordo:2876 PHAVER syndrome oboInOwl:hasDbXref UMLS:C1849928 semapv:UnspecifiedMatching -orphanet.ordo:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref OMIM:171480 semapv:UnspecifiedMatching -orphanet.ordo:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref UMLS:C1868390 semapv:UnspecifiedMatching -orphanet.ordo:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref OMIM:276820 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref MESH:D004612 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref MeSH:D004612 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref MedDRA:10014490 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:130600 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:235370 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:611804 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:617948 semapv:UnspecifiedMatching -orphanet.ordo:288 Hereditary elliptocytosis oboInOwl:hasDbXref UMLS:C0013902 semapv:UnspecifiedMatching -orphanet.ordo:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref MESH:C536654 semapv:UnspecifiedMatching -orphanet.ordo:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref MeSH:C536654 semapv:UnspecifiedMatching -orphanet.ordo:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261650 semapv:UnspecifiedMatching -orphanet.ordo:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261680 semapv:UnspecifiedMatching -orphanet.ordo:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref UMLS:C0268194 semapv:UnspecifiedMatching -orphanet.ordo:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref ICD10:L57.8 semapv:UnspecifiedMatching -orphanet.ordo:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref MESH:C536224 semapv:UnspecifiedMatching -orphanet.ordo:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref MeSH:C536224 semapv:UnspecifiedMatching -orphanet.ordo:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref OMIM:219095 semapv:UnspecifiedMatching -orphanet.ordo:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref UMLS:C1857449 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref MESH:C537345 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref MeSH:C537345 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref MedDRA:10063985 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:618666 semapv:UnspecifiedMatching -orphanet.ordo:2882 Sitosterolemia oboInOwl:hasDbXref UMLS:C0342907 semapv:UnspecifiedMatching -orphanet.ordo:2884 Piebaldism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:2884 Piebaldism oboInOwl:hasDbXref MESH:D016116 semapv:UnspecifiedMatching -orphanet.ordo:2884 Piebaldism oboInOwl:hasDbXref MeSH:D016116 semapv:UnspecifiedMatching -orphanet.ordo:2884 Piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching -orphanet.ordo:2884 Piebaldism oboInOwl:hasDbXref UMLS:C0080024 semapv:UnspecifiedMatching -orphanet.ordo:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref OMIM:172850 semapv:UnspecifiedMatching -orphanet.ordo:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref UMLS:C1868311 semapv:UnspecifiedMatching -orphanet.ordo:2886 TARP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2886 TARP syndrome oboInOwl:hasDbXref MESH:C536942 semapv:UnspecifiedMatching -orphanet.ordo:2886 TARP syndrome oboInOwl:hasDbXref MeSH:C536942 semapv:UnspecifiedMatching -orphanet.ordo:2886 TARP syndrome oboInOwl:hasDbXref OMIM:311900 semapv:UnspecifiedMatching -orphanet.ordo:2886 TARP syndrome oboInOwl:hasDbXref UMLS:C1839463 semapv:UnspecifiedMatching -orphanet.ordo:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref OMIM:311895 semapv:UnspecifiedMatching -orphanet.ordo:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref UMLS:C2931064 semapv:UnspecifiedMatching -orphanet.ordo:2889 Pili torti oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching -orphanet.ordo:2889 Pili torti oboInOwl:hasDbXref OMIM:261900 semapv:UnspecifiedMatching -orphanet.ordo:2889 Pili torti oboInOwl:hasDbXref UMLS:C0263491 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MESH:D004613 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MeSH:D004613 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MedDRA:10008724 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:225500 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:617088 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:618123 semapv:UnspecifiedMatching -orphanet.ordo:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref UMLS:C0013903 semapv:UnspecifiedMatching -orphanet.ordo:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref MESH:C537399 semapv:UnspecifiedMatching -orphanet.ordo:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref MeSH:C537399 semapv:UnspecifiedMatching -orphanet.ordo:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref UMLS:C2931483 semapv:UnspecifiedMatching -orphanet.ordo:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching -orphanet.ordo:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref MESH:C537398 semapv:UnspecifiedMatching -orphanet.ordo:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref MeSH:C537398 semapv:UnspecifiedMatching -orphanet.ordo:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref OMIM:261990 semapv:UnspecifiedMatching -orphanet.ordo:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref UMLS:C1849811 semapv:UnspecifiedMatching -orphanet.ordo:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref ICD10:E55.0 semapv:UnspecifiedMatching -orphanet.ordo:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:264700 semapv:UnspecifiedMatching -orphanet.ordo:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:600081 semapv:UnspecifiedMatching -orphanet.ordo:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref UMLS:C0268689 semapv:UnspecifiedMatching -orphanet.ordo:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:241520 semapv:UnspecifiedMatching -orphanet.ordo:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:613312 semapv:UnspecifiedMatching -orphanet.ordo:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref OMIM:262020 semapv:UnspecifiedMatching -orphanet.ordo:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref UMLS:C1849805 semapv:UnspecifiedMatching -orphanet.ordo:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching -orphanet.ordo:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref OMIM:614300 semapv:UnspecifiedMatching -orphanet.ordo:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614105 semapv:UnspecifiedMatching -orphanet.ordo:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3279840 semapv:UnspecifiedMatching -orphanet.ordo:289326 Tropical spastic paraparesis oboInOwl:hasDbXref ICD10:G04.1 semapv:UnspecifiedMatching -orphanet.ordo:289326 Tropical spastic paraparesis oboInOwl:hasDbXref MedDRA:10044696 semapv:UnspecifiedMatching -orphanet.ordo:289326 Tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching -orphanet.ordo:289326 Tropical spastic paraparesis oboInOwl:hasDbXref UMLS:C0030481 semapv:UnspecifiedMatching -orphanet.ordo:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref ICD10:L30.3 semapv:UnspecifiedMatching -orphanet.ordo:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref ICD10:N13.7 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:193000 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:610878 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:613674 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614317 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614318 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614319 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:615390 semapv:UnspecifiedMatching -orphanet.ordo:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:615963 semapv:UnspecifiedMatching -orphanet.ordo:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref OMIM:611705 semapv:UnspecifiedMatching -orphanet.ordo:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref UMLS:C2673677 semapv:UnspecifiedMatching -orphanet.ordo:289380 Myosclerosis oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:289380 Myosclerosis oboInOwl:hasDbXref MedDRA:10064584 semapv:UnspecifiedMatching -orphanet.ordo:289380 Myosclerosis oboInOwl:hasDbXref OMIM:255600 semapv:UnspecifiedMatching -orphanet.ordo:289380 Myosclerosis oboInOwl:hasDbXref UMLS:C1611706 semapv:UnspecifiedMatching -orphanet.ordo:289385 Malignancy diagnosed during pregnancy oboInOwl:hasDbXref ICD10:O99.8 semapv:UnspecifiedMatching -orphanet.ordo:289390 Primary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching -orphanet.ordo:289390 Primary Sjögren syndrome oboInOwl:hasDbXref OMIM:270150 semapv:UnspecifiedMatching -orphanet.ordo:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching -orphanet.ordo:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref OMIM:136000 semapv:UnspecifiedMatching -orphanet.ordo:289478 PASH syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:289478 PASH syndrome oboInOwl:hasDbXref UMLS:C5191642 semapv:UnspecifiedMatching -orphanet.ordo:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref OMIM:300858 semapv:UnspecifiedMatching -orphanet.ordo:289494 4H leukodystrophy oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching -orphanet.ordo:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref OMIM:269400 semapv:UnspecifiedMatching -orphanet.ordo:2895 Pinsky-Di George-Harley syndrome oboInOwl:hasDbXref UMLS:C2931500 semapv:UnspecifiedMatching -orphanet.ordo:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref OMIM:614265 semapv:UnspecifiedMatching -orphanet.ordo:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS:C3280314 semapv:UnspecifiedMatching -orphanet.ordo:289513 12q15q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:289522 Microtriplication 11q24.1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -orphanet.ordo:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref OMIM:614327 semapv:UnspecifiedMatching -orphanet.ordo:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching -orphanet.ordo:289553 Dysmorphism-conductive hearing loss-heart defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:289553 Dysmorphism-conductive hearing loss-heart defect syndrome oboInOwl:hasDbXref OMIM:615102 semapv:UnspecifiedMatching -orphanet.ordo:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:614298 semapv:UnspecifiedMatching -orphanet.ordo:289586 Exfoliative ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:607936 semapv:UnspecifiedMatching -orphanet.ordo:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:617115 semapv:UnspecifiedMatching -orphanet.ordo:289586 Exfoliative ichthyosis oboInOwl:hasDbXref UMLS:C1838440 semapv:UnspecifiedMatching -orphanet.ordo:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching -orphanet.ordo:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref MESH:C537403 semapv:UnspecifiedMatching -orphanet.ordo:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref MeSH:C537403 semapv:UnspecifiedMatching -orphanet.ordo:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref OMIM:610954 semapv:UnspecifiedMatching -orphanet.ordo:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS:C1970431 semapv:UnspecifiedMatching -orphanet.ordo:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching -orphanet.ordo:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 semapv:UnspecifiedMatching -orphanet.ordo:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder oboInOwl:hasDbXref MedDRA:10068349 semapv:UnspecifiedMatching -orphanet.ordo:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder oboInOwl:hasDbXref UMLS:C2363744 semapv:UnspecifiedMatching -orphanet.ordo:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MedDRA:10065039 semapv:UnspecifiedMatching -orphanet.ordo:289666 Plasmablastic lymphoma oboInOwl:hasDbXref UMLS:C3472614 semapv:UnspecifiedMatching -orphanet.ordo:289682 Lymphoepithelial-like carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching -orphanet.ordo:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching -orphanet.ordo:289685 Myopericytoma oboInOwl:hasDbXref UMLS:C1302808 semapv:UnspecifiedMatching -orphanet.ordo:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref ICD10:L44.0 semapv:UnspecifiedMatching -orphanet.ordo:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:UnspecifiedMatching -orphanet.ordo:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MeSH:D010916 semapv:UnspecifiedMatching -orphanet.ordo:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MedDRA:10035116 semapv:UnspecifiedMatching -orphanet.ordo:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 semapv:UnspecifiedMatching -orphanet.ordo:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref UMLS:C0032027 semapv:UnspecifiedMatching -orphanet.ordo:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref OMIM:300064 semapv:UnspecifiedMatching -orphanet.ordo:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref UMLS:C2931516 semapv:UnspecifiedMatching -orphanet.ordo:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:289841 Disorder of glutamine metabolism oboInOwl:hasDbXref UMLS:C0342669 semapv:UnspecifiedMatching -orphanet.ordo:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching -orphanet.ordo:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching -orphanet.ordo:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching -orphanet.ordo:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching -orphanet.ordo:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref UMLS:C1856399 semapv:UnspecifiedMatching -orphanet.ordo:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching -orphanet.ordo:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 semapv:UnspecifiedMatching -orphanet.ordo:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching -orphanet.ordo:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching -orphanet.ordo:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref OMIM:617301 semapv:UnspecifiedMatching -orphanet.ordo:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching -orphanet.ordo:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref UMLS:C0342690 semapv:UnspecifiedMatching -orphanet.ordo:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref ICD10:P74.8 semapv:UnspecifiedMatching -orphanet.ordo:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref OMIM:606664 semapv:UnspecifiedMatching -orphanet.ordo:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref UMLS:C1847720 semapv:UnspecifiedMatching -orphanet.ordo:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -orphanet.ordo:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:601216 semapv:UnspecifiedMatching -orphanet.ordo:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C1832594 semapv:UnspecifiedMatching -orphanet.ordo:289902 3-methylglutaconic aciduria oboInOwl:hasDbXref UMLS:C3696376 semapv:UnspecifiedMatching -orphanet.ordo:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching -orphanet.ordo:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref UMLS:C1855114 semapv:UnspecifiedMatching -orphanet.ordo:29 Mevalonic aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:29 Mevalonic aciduria oboInOwl:hasDbXref MESH:D054078 semapv:UnspecifiedMatching -orphanet.ordo:29 Mevalonic aciduria oboInOwl:hasDbXref MeSH:D054078 semapv:UnspecifiedMatching -orphanet.ordo:29 Mevalonic aciduria oboInOwl:hasDbXref MedDRA:10072219 semapv:UnspecifiedMatching -orphanet.ordo:29 Mevalonic aciduria oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching -orphanet.ordo:29 Mevalonic aciduria oboInOwl:hasDbXref UMLS:C1959626 semapv:UnspecifiedMatching -orphanet.ordo:290 Congenital rubella syndrome oboInOwl:hasDbXref ICD10:P35.0 semapv:UnspecifiedMatching -orphanet.ordo:290 Congenital rubella syndrome oboInOwl:hasDbXref MESH:D012410 semapv:UnspecifiedMatching -orphanet.ordo:290 Congenital rubella syndrome oboInOwl:hasDbXref MeSH:D012410 semapv:UnspecifiedMatching -orphanet.ordo:290 Congenital rubella syndrome oboInOwl:hasDbXref MedDRA:10010618 semapv:UnspecifiedMatching -orphanet.ordo:290 Congenital rubella syndrome oboInOwl:hasDbXref UMLS:C0035921 semapv:UnspecifiedMatching -orphanet.ordo:2900 Leri pleonosteosis oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:2900 Leri pleonosteosis oboInOwl:hasDbXref MESH:C537118 semapv:UnspecifiedMatching -orphanet.ordo:2900 Leri pleonosteosis oboInOwl:hasDbXref MeSH:C537118 semapv:UnspecifiedMatching -orphanet.ordo:2900 Leri pleonosteosis oboInOwl:hasDbXref OMIM:151200 semapv:UnspecifiedMatching -orphanet.ordo:2900 Leri pleonosteosis oboInOwl:hasDbXref UMLS:C1835450 semapv:UnspecifiedMatching -orphanet.ordo:2901 Neuralgic amyotrophy oboInOwl:hasDbXref ICD10:G54.5 semapv:UnspecifiedMatching -orphanet.ordo:2901 Neuralgic amyotrophy oboInOwl:hasDbXref MedDRA:10063020 semapv:UnspecifiedMatching -orphanet.ordo:2901 Neuralgic amyotrophy oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching -orphanet.ordo:2901 Neuralgic amyotrophy oboInOwl:hasDbXref UMLS:C1510479 semapv:UnspecifiedMatching -orphanet.ordo:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching -orphanet.ordo:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C2930941 semapv:UnspecifiedMatching -orphanet.ordo:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref ICD10:J93.1 semapv:UnspecifiedMatching -orphanet.ordo:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref OMIM:173600 semapv:UnspecifiedMatching -orphanet.ordo:2905 POEMS syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:2905 POEMS syndrome oboInOwl:hasDbXref MESH:D016878 semapv:UnspecifiedMatching -orphanet.ordo:2905 POEMS syndrome oboInOwl:hasDbXref MeSH:D016878 semapv:UnspecifiedMatching -orphanet.ordo:2905 POEMS syndrome oboInOwl:hasDbXref MedDRA:10053869 semapv:UnspecifiedMatching -orphanet.ordo:2905 POEMS syndrome oboInOwl:hasDbXref UMLS:C0085404 semapv:UnspecifiedMatching -orphanet.ordo:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref UMLS:C0406556 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C75.5 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.6 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:115310 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:168000 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:171300 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:601650 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:605373 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:614165 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:618464 semapv:UnspecifiedMatching -orphanet.ordo:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:618475 semapv:UnspecifiedMatching -orphanet.ordo:29073 Multiple myeloma oboInOwl:hasDbXref ICD10:C90.0 semapv:UnspecifiedMatching -orphanet.ordo:29073 Multiple myeloma oboInOwl:hasDbXref MESH:D009101 semapv:UnspecifiedMatching -orphanet.ordo:29073 Multiple myeloma oboInOwl:hasDbXref MeSH:D009101 semapv:UnspecifiedMatching -orphanet.ordo:29073 Multiple myeloma oboInOwl:hasDbXref MedDRA:10028228 semapv:UnspecifiedMatching -orphanet.ordo:29073 Multiple myeloma oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching -orphanet.ordo:29073 Multiple myeloma oboInOwl:hasDbXref UMLS:C0026764 semapv:UnspecifiedMatching -orphanet.ordo:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref MESH:C536321 semapv:UnspecifiedMatching -orphanet.ordo:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref MeSH:C536321 semapv:UnspecifiedMatching -orphanet.ordo:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0406557 semapv:UnspecifiedMatching -orphanet.ordo:290849 Rare head and neck tumor oboInOwl:hasDbXref UMLS:C0018671 semapv:UnspecifiedMatching -orphanet.ordo:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 semapv:UnspecifiedMatching -orphanet.ordo:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref MeSH:D011038 semapv:UnspecifiedMatching -orphanet.ordo:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching -orphanet.ordo:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS:C0032339 semapv:UnspecifiedMatching -orphanet.ordo:291 Congenital varicella syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching -orphanet.ordo:2911 Poland syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:2911 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching -orphanet.ordo:2911 Poland syndrome oboInOwl:hasDbXref MeSH:D011045 semapv:UnspecifiedMatching -orphanet.ordo:2911 Poland syndrome oboInOwl:hasDbXref MedDRA:10036007 semapv:UnspecifiedMatching -orphanet.ordo:2911 Poland syndrome oboInOwl:hasDbXref OMIM:173800 semapv:UnspecifiedMatching -orphanet.ordo:2911 Poland syndrome oboInOwl:hasDbXref UMLS:C0032357 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.0 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.1 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.2 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.3 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.4 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.9 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref MESH:D011051 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref MeSH:D011051 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref MedDRA:10036012 semapv:UnspecifiedMatching -orphanet.ordo:2912 Poliomyelitis oboInOwl:hasDbXref UMLS:C0032371 semapv:UnspecifiedMatching -orphanet.ordo:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MESH:D017689 semapv:UnspecifiedMatching -orphanet.ordo:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MeSH:D017689 semapv:UnspecifiedMatching -orphanet.ordo:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MedDRA:10036063 semapv:UnspecifiedMatching -orphanet.ordo:2913 Non-syndromic polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching -orphanet.ordo:2913 Non-syndromic polydactyly oboInOwl:hasDbXref UMLS:C0152427 semapv:UnspecifiedMatching -orphanet.ordo:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref OMIM:263540 semapv:UnspecifiedMatching -orphanet.ordo:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C1849732 semapv:UnspecifiedMatching -orphanet.ordo:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref OMIM:174310 semapv:UnspecifiedMatching -orphanet.ordo:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref UMLS:C1868117 semapv:UnspecifiedMatching -orphanet.ordo:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref OMIM:174300 semapv:UnspecifiedMatching -orphanet.ordo:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref UMLS:C1868118 semapv:UnspecifiedMatching -orphanet.ordo:292 Congenital enterovirus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching -orphanet.ordo:2920 Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2920 Oliver syndrome oboInOwl:hasDbXref OMIM:258200 semapv:UnspecifiedMatching -orphanet.ordo:2920 Oliver syndrome oboInOwl:hasDbXref UMLS:C1850320 semapv:UnspecifiedMatching -orphanet.ordo:29207 Reactive arthritis oboInOwl:hasDbXref ICD10:M02.3 semapv:UnspecifiedMatching -orphanet.ordo:29207 Reactive arthritis oboInOwl:hasDbXref MESH:D016918 semapv:UnspecifiedMatching -orphanet.ordo:29207 Reactive arthritis oboInOwl:hasDbXref MeSH:D016918 semapv:UnspecifiedMatching -orphanet.ordo:29207 Reactive arthritis oboInOwl:hasDbXref MedDRA:10003267 semapv:UnspecifiedMatching -orphanet.ordo:29207 Reactive arthritis oboInOwl:hasDbXref MedDRA:10038294 semapv:UnspecifiedMatching -orphanet.ordo:29207 Reactive arthritis oboInOwl:hasDbXref UMLS:C0085435 semapv:UnspecifiedMatching -orphanet.ordo:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931655 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MESH:C536330 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MeSH:C536330 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MedDRA:10010427 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MedDRA:10048834 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref OMIM:174050 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref OMIM:617004 semapv:UnspecifiedMatching -orphanet.ordo:2924 Isolated polycystic liver disease oboInOwl:hasDbXref UMLS:C0158683 semapv:UnspecifiedMatching -orphanet.ordo:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref OMIM:207740 semapv:UnspecifiedMatching -orphanet.ordo:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref UMLS:C2930955 semapv:UnspecifiedMatching -orphanet.ordo:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:174900 semapv:UnspecifiedMatching -orphanet.ordo:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching -orphanet.ordo:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching -orphanet.ordo:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref UMLS:C0345893 semapv:UnspecifiedMatching -orphanet.ordo:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref ICD10:P35.2 semapv:UnspecifiedMatching -orphanet.ordo:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref MedDRA:10062907 semapv:UnspecifiedMatching -orphanet.ordo:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 semapv:UnspecifiedMatching -orphanet.ordo:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS:C0282207 semapv:UnspecifiedMatching -orphanet.ordo:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching -orphanet.ordo:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching -orphanet.ordo:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607655 semapv:UnspecifiedMatching -orphanet.ordo:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref OMIM:607225 semapv:UnspecifiedMatching -orphanet.ordo:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref UMLS:C2931441 semapv:UnspecifiedMatching -orphanet.ordo:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref ICD10:L27.0 semapv:UnspecifiedMatching -orphanet.ordo:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref MedDRA:10048799 semapv:UnspecifiedMatching -orphanet.ordo:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref UMLS:C0877055 semapv:UnspecifiedMatching -orphanet.ordo:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching -orphanet.ordo:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:614959 semapv:UnspecifiedMatching -orphanet.ordo:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching -orphanet.ordo:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:616645 semapv:UnspecifiedMatching -orphanet.ordo:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0334480 semapv:UnspecifiedMatching -orphanet.ordo:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref MedDRA:10057645 semapv:UnspecifiedMatching -orphanet.ordo:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0393819 semapv:UnspecifiedMatching -orphanet.ordo:293202 Epithelioid sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:293202 Epithelioid sarcoma oboInOwl:hasDbXref MedDRA:10015099 semapv:UnspecifiedMatching -orphanet.ordo:293202 Epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0205944 semapv:UnspecifiedMatching -orphanet.ordo:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching -orphanet.ordo:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref OMIM:122400 semapv:UnspecifiedMatching -orphanet.ordo:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref UMLS:C1852551 semapv:UnspecifiedMatching -orphanet.ordo:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref OMIM:263630 semapv:UnspecifiedMatching -orphanet.ordo:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref UMLS:C1849719 semapv:UnspecifiedMatching -orphanet.ordo:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref UMLS:C0339282 semapv:UnspecifiedMatching -orphanet.ordo:2935 Crossed polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching -orphanet.ordo:2935 Crossed polysyndactyly oboInOwl:hasDbXref OMIM:175690 semapv:UnspecifiedMatching -orphanet.ordo:2935 Crossed polysyndactyly oboInOwl:hasDbXref UMLS:C1867999 semapv:UnspecifiedMatching -orphanet.ordo:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref OMIM:217700 semapv:UnspecifiedMatching -orphanet.ordo:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref UMLS:C1857569 semapv:UnspecifiedMatching -orphanet.ordo:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:300779 semapv:UnspecifiedMatching -orphanet.ordo:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749049 semapv:UnspecifiedMatching -orphanet.ordo:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching -orphanet.ordo:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref OMIM:300895 semapv:UnspecifiedMatching -orphanet.ordo:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref OMIM:604314 semapv:UnspecifiedMatching -orphanet.ordo:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref UMLS:C1858538 semapv:UnspecifiedMatching -orphanet.ordo:293807 Ketamine-induced biliary dilatation oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching -orphanet.ordo:293812 Fixed drug eruption oboInOwl:hasDbXref ICD10:L25.1 semapv:UnspecifiedMatching -orphanet.ordo:293812 Fixed drug eruption oboInOwl:hasDbXref MedDRA:10048796 semapv:UnspecifiedMatching -orphanet.ordo:293812 Fixed drug eruption oboInOwl:hasDbXref UMLS:C0877391 semapv:UnspecifiedMatching -orphanet.ordo:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching -orphanet.ordo:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:614456 semapv:UnspecifiedMatching -orphanet.ordo:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching -orphanet.ordo:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching -orphanet.ordo:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:293843 3MC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:293843 3MC syndrome oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching -orphanet.ordo:293843 3MC syndrome oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching -orphanet.ordo:293843 3MC syndrome oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching -orphanet.ordo:293848 Frontotemporal dementia, right temporal atrophy variant oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -orphanet.ordo:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref OMIM:615710 semapv:UnspecifiedMatching -orphanet.ordo:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref UMLS:C2748662 semapv:UnspecifiedMatching -orphanet.ordo:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -orphanet.ordo:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching -orphanet.ordo:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -orphanet.ordo:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching -orphanet.ordo:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -orphanet.ordo:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form oboInOwl:hasDbXref OMIM:600996 semapv:UnspecifiedMatching -orphanet.ordo:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching -orphanet.ordo:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching -orphanet.ordo:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form oboInOwl:hasDbXref OMIM:618920 semapv:UnspecifiedMatching -orphanet.ordo:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:614416 semapv:UnspecifiedMatching -orphanet.ordo:293936 EDICT syndrome oboInOwl:hasDbXref ICD10:H18.6 semapv:UnspecifiedMatching -orphanet.ordo:293936 EDICT syndrome oboInOwl:hasDbXref OMIM:614303 semapv:UnspecifiedMatching -orphanet.ordo:293936 EDICT syndrome oboInOwl:hasDbXref UMLS:C3280392 semapv:UnspecifiedMatching -orphanet.ordo:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref OMIM:300815 semapv:UnspecifiedMatching -orphanet.ordo:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching -orphanet.ordo:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref OMIM:614458 semapv:UnspecifiedMatching -orphanet.ordo:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref OMIM:614187 semapv:UnspecifiedMatching -orphanet.ordo:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref OMIM:240900 semapv:UnspecifiedMatching -orphanet.ordo:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref OMIM:615577 semapv:UnspecifiedMatching -orphanet.ordo:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 semapv:UnspecifiedMatching -orphanet.ordo:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref UMLS:C0349499 semapv:UnspecifiedMatching -orphanet.ordo:2940 Porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching -orphanet.ordo:2940 Porencephaly oboInOwl:hasDbXref MedDRA:10036172 semapv:UnspecifiedMatching -orphanet.ordo:2940 Porencephaly oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching -orphanet.ordo:2940 Porencephaly oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching -orphanet.ordo:2940 Porencephaly oboInOwl:hasDbXref UMLS:C0302892 semapv:UnspecifiedMatching -orphanet.ordo:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref OMIM:614261 semapv:UnspecifiedMatching -orphanet.ordo:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref OMIM:614328 semapv:UnspecifiedMatching -orphanet.ordo:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref OMIM:616069 semapv:UnspecifiedMatching -orphanet.ordo:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:294049 Reunion Island Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:294057 Rare nevus oboInOwl:hasDbXref UMLS:C0027960 semapv:UnspecifiedMatching -orphanet.ordo:294060 Multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C0265261 semapv:UnspecifiedMatching -orphanet.ordo:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref OMIM:601322 semapv:UnspecifiedMatching -orphanet.ordo:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref UMLS:C1832472 semapv:UnspecifiedMatching -orphanet.ordo:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10:G14 semapv:UnspecifiedMatching -orphanet.ordo:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS:C0080040 semapv:UnspecifiedMatching -orphanet.ordo:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -orphanet.ordo:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:208540 semapv:UnspecifiedMatching -orphanet.ordo:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:615415 semapv:UnspecifiedMatching -orphanet.ordo:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref UMLS:C2673883 semapv:UnspecifiedMatching -orphanet.ordo:294422 Chronic intestinal failure oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching -orphanet.ordo:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref OMIM:112430 semapv:UnspecifiedMatching -orphanet.ordo:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref UMLS:C1862169 semapv:UnspecifiedMatching -orphanet.ordo:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref MESH:C536564 semapv:UnspecifiedMatching -orphanet.ordo:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref MeSH:C536564 semapv:UnspecifiedMatching -orphanet.ordo:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref OMIM:190680 semapv:UnspecifiedMatching -orphanet.ordo:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref UMLS:C1860804 semapv:UnspecifiedMatching -orphanet.ordo:294925 Amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -orphanet.ordo:294925 Amelia oboInOwl:hasDbXref MedDRA:10001926 semapv:UnspecifiedMatching -orphanet.ordo:294925 Amelia oboInOwl:hasDbXref UMLS:C0002447 semapv:UnspecifiedMatching -orphanet.ordo:294944 Congenital deformities of limbs oboInOwl:hasDbXref MedDRA:10024500 semapv:UnspecifiedMatching -orphanet.ordo:294944 Congenital deformities of limbs oboInOwl:hasDbXref UMLS:C0206762 semapv:UnspecifiedMatching -orphanet.ordo:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref UMLS:C0265259 semapv:UnspecifiedMatching -orphanet.ordo:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching -orphanet.ordo:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching -orphanet.ordo:294971 Tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -orphanet.ordo:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching -orphanet.ordo:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching -orphanet.ordo:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref UMLS:C0031575 semapv:UnspecifiedMatching -orphanet.ordo:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching -orphanet.ordo:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching -orphanet.ordo:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref UMLS:C1306663 semapv:UnspecifiedMatching -orphanet.ordo:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching -orphanet.ordo:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -orphanet.ordo:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching -orphanet.ordo:294986 Apodia oboInOwl:hasDbXref UMLS:C0265624 semapv:UnspecifiedMatching -orphanet.ordo:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -orphanet.ordo:295 Fetal parvovirus syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching -orphanet.ordo:295 Fetal parvovirus syndrome oboInOwl:hasDbXref UMLS:C2931167 semapv:UnspecifiedMatching -orphanet.ordo:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C536563 semapv:UnspecifiedMatching -orphanet.ordo:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref MeSH:C536563 semapv:UnspecifiedMatching -orphanet.ordo:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching -orphanet.ordo:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C1969369 semapv:UnspecifiedMatching -orphanet.ordo:295000 Constriction rings syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:295000 Constriction rings syndrome oboInOwl:hasDbXref OMIM:217100 semapv:UnspecifiedMatching -orphanet.ordo:295002 Hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:295004 Central polydactyly oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching -orphanet.ordo:295004 Central polydactyly oboInOwl:hasDbXref UMLS:C0431903 semapv:UnspecifiedMatching -orphanet.ordo:295012 Syndactyly type 6 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching -orphanet.ordo:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -orphanet.ordo:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref UMLS:C0265610 semapv:UnspecifiedMatching -orphanet.ordo:295016 Camptodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -orphanet.ordo:295016 Camptodactyly of fingers oboInOwl:hasDbXref OMIM:114200 semapv:UnspecifiedMatching -orphanet.ordo:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref UMLS:C0265661 semapv:UnspecifiedMatching -orphanet.ordo:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:295030 True congenital shoulder dislocation oboInOwl:hasDbXref UMLS:C0265562 semapv:UnspecifiedMatching -orphanet.ordo:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref UMLS:C0265561 semapv:UnspecifiedMatching -orphanet.ordo:295034 Congenital knee dislocation oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching -orphanet.ordo:295034 Congenital knee dislocation oboInOwl:hasDbXref MedDRA:10010520 semapv:UnspecifiedMatching -orphanet.ordo:295034 Congenital knee dislocation oboInOwl:hasDbXref UMLS:C0265669 semapv:UnspecifiedMatching -orphanet.ordo:295036 Congenital patella dislocation oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching -orphanet.ordo:295036 Congenital patella dislocation oboInOwl:hasDbXref UMLS:C0345360 semapv:UnspecifiedMatching -orphanet.ordo:295044 Macrodactyly of fingers oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295044 Macrodactyly of fingers oboInOwl:hasDbXref UMLS:C0574044 semapv:UnspecifiedMatching -orphanet.ordo:295047 Macrodactyly of toes oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:295047 Macrodactyly of toes oboInOwl:hasDbXref UMLS:C2931596 semapv:UnspecifiedMatching -orphanet.ordo:295049 Upper limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295049 Upper limb hypertrophy oboInOwl:hasDbXref UMLS:C0575518 semapv:UnspecifiedMatching -orphanet.ordo:295051 Lower limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:274190 semapv:UnspecifiedMatching -orphanet.ordo:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1848818 semapv:UnspecifiedMatching -orphanet.ordo:295187 Zygodactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching -orphanet.ordo:295187 Zygodactyly type 1 oboInOwl:hasDbXref OMIM:609815 semapv:UnspecifiedMatching -orphanet.ordo:295187 Zygodactyly type 1 oboInOwl:hasDbXref UMLS:C1853294 semapv:UnspecifiedMatching -orphanet.ordo:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching -orphanet.ordo:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching -orphanet.ordo:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching -orphanet.ordo:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching -orphanet.ordo:295193 Zygodactyly type 4 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching -orphanet.ordo:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:295195 Synpolydactyly type 1 oboInOwl:hasDbXref OMIM:186000 semapv:UnspecifiedMatching -orphanet.ordo:295195 Synpolydactyly type 1 oboInOwl:hasDbXref UMLS:C1861367 semapv:UnspecifiedMatching -orphanet.ordo:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:295197 Synpolydactyly type 2 oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching -orphanet.ordo:295197 Synpolydactyly type 2 oboInOwl:hasDbXref UMLS:C1842422 semapv:UnspecifiedMatching -orphanet.ordo:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:295199 Synpolydactyly type 3 oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching -orphanet.ordo:295199 Synpolydactyly type 3 oboInOwl:hasDbXref UMLS:C1853255 semapv:UnspecifiedMatching -orphanet.ordo:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref OMIM:201550 semapv:UnspecifiedMatching -orphanet.ordo:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:295229 Congenital genu recurvatum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching -orphanet.ordo:295229 Congenital genu recurvatum oboInOwl:hasDbXref UMLS:C0152235 semapv:UnspecifiedMatching -orphanet.ordo:295232 Congenital genu flexum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching -orphanet.ordo:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -orphanet.ordo:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:601776 semapv:UnspecifiedMatching -orphanet.ordo:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615539 semapv:UnspecifiedMatching -orphanet.ordo:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref MESH:C538180 semapv:UnspecifiedMatching -orphanet.ordo:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref MESH:C538277 semapv:UnspecifiedMatching -orphanet.ordo:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref MeSH:C538180 semapv:UnspecifiedMatching -orphanet.ordo:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref MeSH:C538277 semapv:UnspecifiedMatching -orphanet.ordo:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref UMLS:C2931761 semapv:UnspecifiedMatching -orphanet.ordo:2957 Guttmacher syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2957 Guttmacher syndrome oboInOwl:hasDbXref MESH:C538278 semapv:UnspecifiedMatching -orphanet.ordo:2957 Guttmacher syndrome oboInOwl:hasDbXref MeSH:C538278 semapv:UnspecifiedMatching -orphanet.ordo:2957 Guttmacher syndrome oboInOwl:hasDbXref OMIM:176305 semapv:UnspecifiedMatching -orphanet.ordo:2957 Guttmacher syndrome oboInOwl:hasDbXref UMLS:C1867801 semapv:UnspecifiedMatching -orphanet.ordo:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:309610 semapv:UnspecifiedMatching -orphanet.ordo:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C1839730 semapv:UnspecifiedMatching -orphanet.ordo:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref MESH:C536422 semapv:UnspecifiedMatching -orphanet.ordo:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref MeSH:C536422 semapv:UnspecifiedMatching -orphanet.ordo:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref OMIM:176690 semapv:UnspecifiedMatching -orphanet.ordo:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref UMLS:C1261128 semapv:UnspecifiedMatching -orphanet.ordo:296 Ollier disease oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:296 Ollier disease oboInOwl:hasDbXref MESH:D004687 semapv:UnspecifiedMatching -orphanet.ordo:296 Ollier disease oboInOwl:hasDbXref MeSH:D004687 semapv:UnspecifiedMatching -orphanet.ordo:296 Ollier disease oboInOwl:hasDbXref MedDRA:10014642 semapv:UnspecifiedMatching -orphanet.ordo:296 Ollier disease oboInOwl:hasDbXref OMIM:166000 semapv:UnspecifiedMatching -orphanet.ordo:296 Ollier disease oboInOwl:hasDbXref UMLS:C0014084 semapv:UnspecifiedMatching -orphanet.ordo:2962 De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2962 De Barsy syndrome oboInOwl:hasDbXref MESH:C535990 semapv:UnspecifiedMatching -orphanet.ordo:2962 De Barsy syndrome oboInOwl:hasDbXref MeSH:C535990 semapv:UnspecifiedMatching -orphanet.ordo:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching -orphanet.ordo:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching -orphanet.ordo:2962 De Barsy syndrome oboInOwl:hasDbXref UMLS:C0268354 semapv:UnspecifiedMatching -orphanet.ordo:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref OMIM:612289 semapv:UnspecifiedMatching -orphanet.ordo:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref UMLS:C2931653 semapv:UnspecifiedMatching -orphanet.ordo:2964 Autosomal dominant prognathism oboInOwl:hasDbXref ICD10:K07.1 semapv:UnspecifiedMatching -orphanet.ordo:2964 Autosomal dominant prognathism oboInOwl:hasDbXref OMIM:176700 semapv:UnspecifiedMatching -orphanet.ordo:2964 Autosomal dominant prognathism oboInOwl:hasDbXref UMLS:C4755315 semapv:UnspecifiedMatching -orphanet.ordo:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:2965 Prolactinoma oboInOwl:hasDbXref MESH:D015175 semapv:UnspecifiedMatching -orphanet.ordo:2965 Prolactinoma oboInOwl:hasDbXref MeSH:D015175 semapv:UnspecifiedMatching -orphanet.ordo:2965 Prolactinoma oboInOwl:hasDbXref MedDRA:10036832 semapv:UnspecifiedMatching -orphanet.ordo:2965 Prolactinoma oboInOwl:hasDbXref UMLS:C0033375 semapv:UnspecifiedMatching -orphanet.ordo:2966 Properdin deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:2966 Properdin deficiency oboInOwl:hasDbXref MESH:C537241 semapv:UnspecifiedMatching -orphanet.ordo:2966 Properdin deficiency oboInOwl:hasDbXref MeSH:C537241 semapv:UnspecifiedMatching -orphanet.ordo:2966 Properdin deficiency oboInOwl:hasDbXref OMIM:312060 semapv:UnspecifiedMatching -orphanet.ordo:2966 Properdin deficiency oboInOwl:hasDbXref UMLS:C0398762 semapv:UnspecifiedMatching -orphanet.ordo:2967 Transcobalamin I deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching -orphanet.ordo:2967 Transcobalamin I deficiency oboInOwl:hasDbXref OMIM:193090 semapv:UnspecifiedMatching -orphanet.ordo:2967 Transcobalamin I deficiency oboInOwl:hasDbXref UMLS:C0342700 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref MESH:D018370 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref MeSH:D018370 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:116920 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:266265 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:612840 semapv:UnspecifiedMatching -orphanet.ordo:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS:C0242597 semapv:UnspecifiedMatching -orphanet.ordo:2969 Proteus-like syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:2969 Proteus-like syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching -orphanet.ordo:2969 Proteus-like syndrome oboInOwl:hasDbXref UMLS:C1866398 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.0 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.1 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.8 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.9 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref MESH:D004675 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref MeSH:D004675 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref MedDRA:10043848 semapv:UnspecifiedMatching -orphanet.ordo:297 Tick-borne encephalitis oboInOwl:hasDbXref UMLS:C0014061 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref ICD10:Q79.4 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref MESH:C536477 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref MESH:D011535 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref MeSH:C536477 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref MeSH:D011535 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref MedDRA:10051025 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref OMIM:100100 semapv:UnspecifiedMatching -orphanet.ordo:2970 Prune belly syndrome oboInOwl:hasDbXref UMLS:C0033770 semapv:UnspecifiedMatching -orphanet.ordo:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MESH:C536662 semapv:UnspecifiedMatching -orphanet.ordo:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MeSH:C536662 semapv:UnspecifiedMatching -orphanet.ordo:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref OMIM:264470 semapv:UnspecifiedMatching -orphanet.ordo:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C1849678 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref ICD10:K07.0 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref MESH:C536952 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref MESH:C537496 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref MeSH:C536952 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref MeSH:C537496 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref OMIM:273050 semapv:UnspecifiedMatching -orphanet.ordo:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref UMLS:C2931509 semapv:UnspecifiedMatching -orphanet.ordo:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching -orphanet.ordo:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching -orphanet.ordo:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:264270 semapv:UnspecifiedMatching -orphanet.ordo:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1849696 semapv:UnspecifiedMatching -orphanet.ordo:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref MESH:C536310 semapv:UnspecifiedMatching -orphanet.ordo:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref MeSH:C536310 semapv:UnspecifiedMatching -orphanet.ordo:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref OMIM:169170 semapv:UnspecifiedMatching -orphanet.ordo:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref UMLS:C1868546 semapv:UnspecifiedMatching -orphanet.ordo:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:243180 semapv:UnspecifiedMatching -orphanet.ordo:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching -orphanet.ordo:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:601223 semapv:UnspecifiedMatching -orphanet.ordo:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:609629 semapv:UnspecifiedMatching -orphanet.ordo:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C0238062 semapv:UnspecifiedMatching -orphanet.ordo:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:603041 semapv:UnspecifiedMatching -orphanet.ordo:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching -orphanet.ordo:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:613662 semapv:UnspecifiedMatching -orphanet.ordo:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:619780 semapv:UnspecifiedMatching -orphanet.ordo:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref UMLS:C0872218 semapv:UnspecifiedMatching -orphanet.ordo:2980 Acrootoocular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2980 Acrootoocular syndrome oboInOwl:hasDbXref OMIM:264475 semapv:UnspecifiedMatching -orphanet.ordo:2980 Acrootoocular syndrome oboInOwl:hasDbXref UMLS:C1849661 semapv:UnspecifiedMatching -orphanet.ordo:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref MESH:C535818 semapv:UnspecifiedMatching -orphanet.ordo:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref MeSH:C535818 semapv:UnspecifiedMatching -orphanet.ordo:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref UMLS:C1533628 semapv:UnspecifiedMatching -orphanet.ordo:2982 46,XX difference of sex development oboInOwl:hasDbXref MESH:D058489 semapv:UnspecifiedMatching -orphanet.ordo:2982 46,XX difference of sex development oboInOwl:hasDbXref MeSH:D058489 semapv:UnspecifiedMatching -orphanet.ordo:2982 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C2936403 semapv:UnspecifiedMatching -orphanet.ordo:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref UMLS:C2931542 semapv:UnspecifiedMatching -orphanet.ordo:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q56.3 semapv:UnspecifiedMatching -orphanet.ordo:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref OMIM:600122 semapv:UnspecifiedMatching -orphanet.ordo:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931233 semapv:UnspecifiedMatching -orphanet.ordo:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref OMIM:200130 semapv:UnspecifiedMatching -orphanet.ordo:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref UMLS:C0796125 semapv:UnspecifiedMatching -orphanet.ordo:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref OMIM:178200 semapv:UnspecifiedMatching -orphanet.ordo:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref UMLS:C1867439 semapv:UnspecifiedMatching -orphanet.ordo:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref OMIM:600159 semapv:UnspecifiedMatching -orphanet.ordo:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref UMLS:C1838562 semapv:UnspecifiedMatching -orphanet.ordo:2989 Familial pterygium of the conjunctiva oboInOwl:hasDbXref ICD10:H11.0 semapv:UnspecifiedMatching -orphanet.ordo:2989 Familial pterygium of the conjunctiva oboInOwl:hasDbXref OMIM:178000 semapv:UnspecifiedMatching -orphanet.ordo:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref OMIM:265000 semapv:UnspecifiedMatching -orphanet.ordo:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref OMIM:618469 semapv:UnspecifiedMatching -orphanet.ordo:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref OMIM:177980 semapv:UnspecifiedMatching -orphanet.ordo:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1867443 semapv:UnspecifiedMatching -orphanet.ordo:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching -orphanet.ordo:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref OMIM:614583 semapv:UnspecifiedMatching -orphanet.ordo:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref UMLS:C1855722 semapv:UnspecifiedMatching -orphanet.ordo:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching -orphanet.ordo:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref OMIM:193240 semapv:UnspecifiedMatching -orphanet.ordo:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref UMLS:C1860403 semapv:UnspecifiedMatching -orphanet.ordo:2998 Carnevale syndrome oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching -orphanet.ordo:2998 Carnevale syndrome oboInOwl:hasDbXref UMLS:C0796279 semapv:UnspecifiedMatching -orphanet.ordo:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref ICD10:Q10.0 semapv:UnspecifiedMatching -orphanet.ordo:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref OMIM:178330 semapv:UnspecifiedMatching -orphanet.ordo:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref UMLS:C1867437 semapv:UnspecifiedMatching -orphanet.ordo:30 Hereditary orotic aciduria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:30 Hereditary orotic aciduria oboInOwl:hasDbXref MESH:C537136 semapv:UnspecifiedMatching -orphanet.ordo:30 Hereditary orotic aciduria oboInOwl:hasDbXref MeSH:C537136 semapv:UnspecifiedMatching -orphanet.ordo:30 Hereditary orotic aciduria oboInOwl:hasDbXref MedDRA:10052621 semapv:UnspecifiedMatching -orphanet.ordo:30 Hereditary orotic aciduria oboInOwl:hasDbXref OMIM:258900 semapv:UnspecifiedMatching -orphanet.ordo:30 Hereditary orotic aciduria oboInOwl:hasDbXref UMLS:C0220987 semapv:UnspecifiedMatching -orphanet.ordo:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref MESH:C536663 semapv:UnspecifiedMatching -orphanet.ordo:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref MeSH:C536663 semapv:UnspecifiedMatching -orphanet.ordo:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref OMIM:261515 semapv:UnspecifiedMatching -orphanet.ordo:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref UMLS:C0342870 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MeSH:C536961 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MedDRA:10063654 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MedDRA:10063656 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching -orphanet.ordo:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref UMLS:C0342549 semapv:UnspecifiedMatching -orphanet.ordo:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref OMIM:614557 semapv:UnspecifiedMatching -orphanet.ordo:3002 Immune thrombocytopenia oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching -orphanet.ordo:3002 Immune thrombocytopenia oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching -orphanet.ordo:3002 Immune thrombocytopenia oboInOwl:hasDbXref MeSH:D016553 semapv:UnspecifiedMatching -orphanet.ordo:3002 Immune thrombocytopenia oboInOwl:hasDbXref MedDRA:10021245 semapv:UnspecifiedMatching -orphanet.ordo:3002 Immune thrombocytopenia oboInOwl:hasDbXref OMIM:188030 semapv:UnspecifiedMatching -orphanet.ordo:3002 Immune thrombocytopenia oboInOwl:hasDbXref UMLS:C0398650 semapv:UnspecifiedMatching -orphanet.ordo:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref OMIM:612394 semapv:UnspecifiedMatching -orphanet.ordo:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref UMLS:C2676285 semapv:UnspecifiedMatching -orphanet.ordo:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching -orphanet.ordo:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref OMIM:614480 semapv:UnspecifiedMatching -orphanet.ordo:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref OMIM:619324 semapv:UnspecifiedMatching -orphanet.ordo:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref OMIM:615234 semapv:UnspecifiedMatching -orphanet.ordo:3003 Pyknoachondrogenesis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:3003 Pyknoachondrogenesis oboInOwl:hasDbXref MESH:C536251 semapv:UnspecifiedMatching -orphanet.ordo:3003 Pyknoachondrogenesis oboInOwl:hasDbXref MeSH:C536251 semapv:UnspecifiedMatching -orphanet.ordo:3003 Pyknoachondrogenesis oboInOwl:hasDbXref OMIM:265880 semapv:UnspecifiedMatching -orphanet.ordo:3003 Pyknoachondrogenesis oboInOwl:hasDbXref UMLS:C1849523 semapv:UnspecifiedMatching -orphanet.ordo:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref OMIM:614482 semapv:UnspecifiedMatching -orphanet.ordo:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching -orphanet.ordo:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -orphanet.ordo:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref OMIM:606445 semapv:UnspecifiedMatching -orphanet.ordo:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref UMLS:C1847973 semapv:UnspecifiedMatching -orphanet.ordo:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:N08.2 semapv:UnspecifiedMatching -orphanet.ordo:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:609057 semapv:UnspecifiedMatching -orphanet.ordo:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1836823 semapv:UnspecifiedMatching -orphanet.ordo:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching -orphanet.ordo:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching -orphanet.ordo:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching -orphanet.ordo:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref OMIM:614468 semapv:UnspecifiedMatching -orphanet.ordo:300373 X-linked acrogigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching -orphanet.ordo:300373 X-linked acrogigantism oboInOwl:hasDbXref OMIM:300942 semapv:UnspecifiedMatching -orphanet.ordo:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:616914 semapv:UnspecifiedMatching -orphanet.ordo:300385 Pituitary carcinoma oboInOwl:hasDbXref ICD10:C75.1 semapv:UnspecifiedMatching -orphanet.ordo:300385 Pituitary carcinoma oboInOwl:hasDbXref UMLS:C0346300 semapv:UnspecifiedMatching -orphanet.ordo:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:300493 Sagliker syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching -orphanet.ordo:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref OMIM:300868 semapv:UnspecifiedMatching -orphanet.ordo:3005 Pyle disease oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:3005 Pyle disease oboInOwl:hasDbXref MESH:C536252 semapv:UnspecifiedMatching -orphanet.ordo:3005 Pyle disease oboInOwl:hasDbXref MeSH:C536252 semapv:UnspecifiedMatching -orphanet.ordo:3005 Pyle disease oboInOwl:hasDbXref OMIM:265900 semapv:UnspecifiedMatching -orphanet.ordo:3005 Pyle disease oboInOwl:hasDbXref UMLS:C0265294 semapv:UnspecifiedMatching -orphanet.ordo:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:300504 Onychocytic matricoma oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -orphanet.ordo:300512 Onychomatricoma oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -orphanet.ordo:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref OMIM:614495 semapv:UnspecifiedMatching -orphanet.ordo:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref OMIM:614496 semapv:UnspecifiedMatching -orphanet.ordo:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:300536 DDOST-CDG oboInOwl:hasDbXref OMIM:614507 semapv:UnspecifiedMatching -orphanet.ordo:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:143880 semapv:UnspecifiedMatching -orphanet.ordo:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:616963 semapv:UnspecifiedMatching -orphanet.ordo:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching -orphanet.ordo:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching -orphanet.ordo:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching -orphanet.ordo:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref MedDRA:10048853 semapv:UnspecifiedMatching -orphanet.ordo:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref UMLS:C0262401 semapv:UnspecifiedMatching -orphanet.ordo:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref OMIM:614039 semapv:UnspecifiedMatching -orphanet.ordo:300573 Polymicrogyria due to TUBB2B mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:300573 Polymicrogyria due to TUBB2B mutation oboInOwl:hasDbXref OMIM:610031 semapv:UnspecifiedMatching -orphanet.ordo:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C19 semapv:UnspecifiedMatching -orphanet.ordo:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref OMIM:608615 semapv:UnspecifiedMatching -orphanet.ordo:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref UMLS:C1837750 semapv:UnspecifiedMatching -orphanet.ordo:300579 Staphylococcal toxemia oboInOwl:hasDbXref MedDRA:10041932 semapv:UnspecifiedMatching -orphanet.ordo:300579 Staphylococcal toxemia oboInOwl:hasDbXref UMLS:C0854511 semapv:UnspecifiedMatching -orphanet.ordo:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 semapv:UnspecifiedMatching -orphanet.ordo:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref MeSH:C536254 semapv:UnspecifiedMatching -orphanet.ordo:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:266100 semapv:UnspecifiedMatching -orphanet.ordo:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:617290 semapv:UnspecifiedMatching -orphanet.ordo:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref UMLS:C1849508 semapv:UnspecifiedMatching -orphanet.ordo:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205100 semapv:UnspecifiedMatching -orphanet.ordo:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:602099 semapv:UnspecifiedMatching -orphanet.ordo:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614373 semapv:UnspecifiedMatching -orphanet.ordo:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching -orphanet.ordo:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MESH:D015324 semapv:UnspecifiedMatching -orphanet.ordo:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MeSH:D015324 semapv:UnspecifiedMatching -orphanet.ordo:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching -orphanet.ordo:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref UMLS:C0034341 semapv:UnspecifiedMatching -orphanet.ordo:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref UMLS:C1321547 semapv:UnspecifiedMatching -orphanet.ordo:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching -orphanet.ordo:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref MedDRA:10065863 semapv:UnspecifiedMatching -orphanet.ordo:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1301362 semapv:UnspecifiedMatching -orphanet.ordo:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching -orphanet.ordo:300878 Hairy cell leukemia variant oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching -orphanet.ordo:300878 Hairy cell leukemia variant oboInOwl:hasDbXref MedDRA:10019054 semapv:UnspecifiedMatching -orphanet.ordo:300878 Hairy cell leukemia variant oboInOwl:hasDbXref UMLS:C0349633 semapv:UnspecifiedMatching -orphanet.ordo:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching -orphanet.ordo:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching -orphanet.ordo:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1332078 semapv:UnspecifiedMatching -orphanet.ordo:300912 Marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0242647 semapv:UnspecifiedMatching -orphanet.ordo:301 Ependymal tumor oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -orphanet.ordo:301 Ependymal tumor oboInOwl:hasDbXref UMLS:C0014474 semapv:UnspecifiedMatching -orphanet.ordo:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref MESH:C536259 semapv:UnspecifiedMatching -orphanet.ordo:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref MeSH:C536259 semapv:UnspecifiedMatching -orphanet.ordo:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref OMIM:600096 semapv:UnspecifiedMatching -orphanet.ordo:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref UMLS:C2931142 semapv:UnspecifiedMatching -orphanet.ordo:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching -orphanet.ordo:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270950 semapv:UnspecifiedMatching -orphanet.ordo:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1849112 semapv:UnspecifiedMatching -orphanet.ordo:3015 Radio-renal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3015 Radio-renal syndrome oboInOwl:hasDbXref MESH:C536267 semapv:UnspecifiedMatching -orphanet.ordo:3015 Radio-renal syndrome oboInOwl:hasDbXref MeSH:C536267 semapv:UnspecifiedMatching -orphanet.ordo:3015 Radio-renal syndrome oboInOwl:hasDbXref OMIM:179280 semapv:UnspecifiedMatching -orphanet.ordo:3015 Radio-renal syndrome oboInOwl:hasDbXref UMLS:C2931146 semapv:UnspecifiedMatching -orphanet.ordo:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref MESH:C535281 semapv:UnspecifiedMatching -orphanet.ordo:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref MeSH:C535281 semapv:UnspecifiedMatching -orphanet.ordo:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref OMIM:312190 semapv:UnspecifiedMatching -orphanet.ordo:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref UMLS:C1839410 semapv:UnspecifiedMatching -orphanet.ordo:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching -orphanet.ordo:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref MESH:C535283 semapv:UnspecifiedMatching -orphanet.ordo:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref MeSH:C535283 semapv:UnspecifiedMatching -orphanet.ordo:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref OMIM:277175 semapv:UnspecifiedMatching -orphanet.ordo:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref UMLS:C2930864 semapv:UnspecifiedMatching -orphanet.ordo:3019 Ramon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3019 Ramon syndrome oboInOwl:hasDbXref MESH:C535285 semapv:UnspecifiedMatching -orphanet.ordo:3019 Ramon syndrome oboInOwl:hasDbXref MeSH:C535285 semapv:UnspecifiedMatching -orphanet.ordo:3019 Ramon syndrome oboInOwl:hasDbXref OMIM:266270 semapv:UnspecifiedMatching -orphanet.ordo:3019 Ramon syndrome oboInOwl:hasDbXref UMLS:C0796133 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MeSH:D004819 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MedDRA:10052339 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:226400 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:305350 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618231 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618267 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618309 semapv:UnspecifiedMatching -orphanet.ordo:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching -orphanet.ordo:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ semapv:UnspecifiedMatching -orphanet.ordo:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:G53.0* semapv:UnspecifiedMatching -orphanet.ordo:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref UMLS:C0017409 semapv:UnspecifiedMatching -orphanet.ordo:3021 RAPADILINO syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3021 RAPADILINO syndrome oboInOwl:hasDbXref MESH:C535288 semapv:UnspecifiedMatching -orphanet.ordo:3021 RAPADILINO syndrome oboInOwl:hasDbXref MeSH:C535288 semapv:UnspecifiedMatching -orphanet.ordo:3021 RAPADILINO syndrome oboInOwl:hasDbXref OMIM:266280 semapv:UnspecifiedMatching -orphanet.ordo:3021 RAPADILINO syndrome oboInOwl:hasDbXref UMLS:C1849453 semapv:UnspecifiedMatching -orphanet.ordo:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching -orphanet.ordo:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref MeSH:C535289 semapv:UnspecifiedMatching -orphanet.ordo:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching -orphanet.ordo:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref UMLS:C1785148 semapv:UnspecifiedMatching -orphanet.ordo:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref MESH:C535290 semapv:UnspecifiedMatching -orphanet.ordo:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref MeSH:C535290 semapv:UnspecifiedMatching -orphanet.ordo:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref OMIM:133705 semapv:UnspecifiedMatching -orphanet.ordo:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref UMLS:C2930867 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref MESH:C536263 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref MESH:C537280 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref MeSH:C536263 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref MeSH:C537280 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref OMIM:179270 semapv:UnspecifiedMatching -orphanet.ordo:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref UMLS:C2931464 semapv:UnspecifiedMatching -orphanet.ordo:3027 Caudal regression syndrome oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching -orphanet.ordo:3027 Caudal regression syndrome oboInOwl:hasDbXref MedDRA:10054842 semapv:UnspecifiedMatching -orphanet.ordo:3027 Caudal regression syndrome oboInOwl:hasDbXref MedDRA:10059387 semapv:UnspecifiedMatching -orphanet.ordo:3027 Caudal regression syndrome oboInOwl:hasDbXref MedDRA:10068896 semapv:UnspecifiedMatching -orphanet.ordo:3027 Caudal regression syndrome oboInOwl:hasDbXref OMIM:600145 semapv:UnspecifiedMatching -orphanet.ordo:3027 Caudal regression syndrome oboInOwl:hasDbXref UMLS:C0300948 semapv:UnspecifiedMatching -orphanet.ordo:3029 NON RARE IN EUROPE: Horseshoe kidney oboInOwl:hasDbXref ICD10:Q63.1 semapv:UnspecifiedMatching -orphanet.ordo:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079294 semapv:UnspecifiedMatching -orphanet.ordo:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching -orphanet.ordo:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching -orphanet.ordo:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref UMLS:C2673885 semapv:UnspecifiedMatching -orphanet.ordo:3033 Renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:3033 Renal tubular dysgenesis oboInOwl:hasDbXref OMIM:267430 semapv:UnspecifiedMatching -orphanet.ordo:3033 Renal tubular dysgenesis oboInOwl:hasDbXref UMLS:C0266313 semapv:UnspecifiedMatching -orphanet.ordo:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref OMIM:155980 semapv:UnspecifiedMatching -orphanet.ordo:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref UMLS:C1835030 semapv:UnspecifiedMatching -orphanet.ordo:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref OMIM:236640 semapv:UnspecifiedMatching -orphanet.ordo:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1856052 semapv:UnspecifiedMatching -orphanet.ordo:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref OMIM:182875 semapv:UnspecifiedMatching -orphanet.ordo:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref UMLS:C2931119 semapv:UnspecifiedMatching -orphanet.ordo:30391 Isolated biliary atresia oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching -orphanet.ordo:30391 Isolated biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMatching -orphanet.ordo:30391 Isolated biliary atresia oboInOwl:hasDbXref MeSH:D001656 semapv:UnspecifiedMatching -orphanet.ordo:30391 Isolated biliary atresia oboInOwl:hasDbXref MedDRA:10003650 semapv:UnspecifiedMatching -orphanet.ordo:30391 Isolated biliary atresia oboInOwl:hasDbXref OMIM:210500 semapv:UnspecifiedMatching -orphanet.ordo:30391 Isolated biliary atresia oboInOwl:hasDbXref UMLS:C0005411 semapv:UnspecifiedMatching -orphanet.ordo:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0079298 semapv:UnspecifiedMatching -orphanet.ordo:304055 Pituitary tumor oboInOwl:hasDbXref UMLS:C0032019 semapv:UnspecifiedMatching -orphanet.ordo:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref OMIM:300977 semapv:UnspecifiedMatching -orphanet.ordo:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref UMLS:C1866985 semapv:UnspecifiedMatching -orphanet.ordo:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref OMIM:259050 semapv:UnspecifiedMatching -orphanet.ordo:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref UMLS:C0796121 semapv:UnspecifiedMatching -orphanet.ordo:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref OMIM:249599 semapv:UnspecifiedMatching -orphanet.ordo:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C1855303 semapv:UnspecifiedMatching -orphanet.ordo:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref OMIM:603736 semapv:UnspecifiedMatching -orphanet.ordo:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref UMLS:C1863557 semapv:UnspecifiedMatching -orphanet.ordo:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref MESH:D016109 semapv:UnspecifiedMatching -orphanet.ordo:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref MeSH:D016109 semapv:UnspecifiedMatching -orphanet.ordo:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079301 semapv:UnspecifiedMatching -orphanet.ordo:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref OMIM:601358 semapv:UnspecifiedMatching -orphanet.ordo:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref UMLS:C1303073 semapv:UnspecifiedMatching -orphanet.ordo:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref OMIM:309480 semapv:UnspecifiedMatching -orphanet.ordo:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref UMLS:C2931381 semapv:UnspecifiedMatching -orphanet.ordo:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref UMLS:C0796264 semapv:UnspecifiedMatching -orphanet.ordo:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref OMIM:300615 semapv:UnspecifiedMatching -orphanet.ordo:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref UMLS:C0796275 semapv:UnspecifiedMatching -orphanet.ordo:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:601764 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:605751 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:612627 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:617080 semapv:UnspecifiedMatching -orphanet.ordo:306 Benign familial infantile epilepsy oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching -orphanet.ordo:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref OMIM:309583 semapv:UnspecifiedMatching -orphanet.ordo:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref UMLS:C0796160 semapv:UnspecifiedMatching -orphanet.ordo:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:306498 PTEN hamartoma tumor syndrome oboInOwl:hasDbXref UMLS:C1959582 semapv:UnspecifiedMatching -orphanet.ordo:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref OMIM:614748 semapv:UnspecifiedMatching -orphanet.ordo:306507 LAMB2-related infantile-onset nephrotic syndrome oboInOwl:hasDbXref OMIM:614199 semapv:UnspecifiedMatching -orphanet.ordo:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref OMIM:613647 semapv:UnspecifiedMatching -orphanet.ordo:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref OMIM:601471 semapv:UnspecifiedMatching -orphanet.ordo:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref UMLS:C1832284 semapv:UnspecifiedMatching -orphanet.ordo:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref OMIM:604185 semapv:UnspecifiedMatching -orphanet.ordo:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref OMIM:614744 semapv:UnspecifiedMatching -orphanet.ordo:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome oboInOwl:hasDbXref OMIM:613456 semapv:UnspecifiedMatching -orphanet.ordo:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome oboInOwl:hasDbXref OMIM:613730 semapv:UnspecifiedMatching -orphanet.ordo:306550 FADD-related immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:306550 FADD-related immunodeficiency oboInOwl:hasDbXref OMIM:613759 semapv:UnspecifiedMatching -orphanet.ordo:306553 Myospherulosis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching -orphanet.ordo:306553 Myospherulosis oboInOwl:hasDbXref UMLS:C0027123 semapv:UnspecifiedMatching -orphanet.ordo:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:614231 semapv:UnspecifiedMatching -orphanet.ordo:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:619278 semapv:UnspecifiedMatching -orphanet.ordo:306577 Sodium channelopathy-related small fiber neuropathy oboInOwl:hasDbXref ICD10:G99.1 semapv:UnspecifiedMatching -orphanet.ordo:306577 Sodium channelopathy-related small fiber neuropathy oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching -orphanet.ordo:306577 Sodium channelopathy-related small fiber neuropathy oboInOwl:hasDbXref OMIM:615551 semapv:UnspecifiedMatching -orphanet.ordo:306633 Rare tumor of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C0750952 semapv:UnspecifiedMatching -orphanet.ordo:306636 Rare tumor of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C0023903 semapv:UnspecifiedMatching -orphanet.ordo:306644 Complication after organ transplantation oboInOwl:hasDbXref ICD10:T86.8 semapv:UnspecifiedMatching -orphanet.ordo:306648 Non-infectious anterior uveitis oboInOwl:hasDbXref UMLS:C0339317 semapv:UnspecifiedMatching -orphanet.ordo:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching -orphanet.ordo:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching -orphanet.ordo:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref UMLS:C1864861 semapv:UnspecifiedMatching -orphanet.ordo:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching -orphanet.ordo:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching -orphanet.ordo:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:617993 semapv:UnspecifiedMatching -orphanet.ordo:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:617994 semapv:UnspecifiedMatching -orphanet.ordo:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching -orphanet.ordo:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS:C1847640 semapv:UnspecifiedMatching -orphanet.ordo:306682 Manganese poisoning oboInOwl:hasDbXref ICD10:T57.2 semapv:UnspecifiedMatching -orphanet.ordo:306682 Manganese poisoning oboInOwl:hasDbXref MedDRA:10058951 semapv:UnspecifiedMatching -orphanet.ordo:306682 Manganese poisoning oboInOwl:hasDbXref UMLS:C0677050 semapv:UnspecifiedMatching -orphanet.ordo:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching -orphanet.ordo:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref UMLS:C0393565 semapv:UnspecifiedMatching -orphanet.ordo:306692 Cyanide-induced parkinsonism-dystonia oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching -orphanet.ordo:306715 Rare choreic movement disorder oboInOwl:hasDbXref UMLS:C0008489 semapv:UnspecifiedMatching -orphanet.ordo:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.0 semapv:UnspecifiedMatching -orphanet.ordo:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.9 semapv:UnspecifiedMatching -orphanet.ordo:306731 Sydenham chorea oboInOwl:hasDbXref MedDRA:10042732 semapv:UnspecifiedMatching -orphanet.ordo:306731 Sydenham chorea oboInOwl:hasDbXref UMLS:C0152113 semapv:UnspecifiedMatching -orphanet.ordo:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref OMIM:614588 semapv:UnspecifiedMatching -orphanet.ordo:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:306776 Sporadic hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref OMIM:253320 semapv:UnspecifiedMatching -orphanet.ordo:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref UMLS:C1854663 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MeSH:D020190 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MedDRA:10071082 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:604827 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:607628 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:607682 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:608816 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:611136 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:611364 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:613060 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:614280 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:617924 semapv:UnspecifiedMatching -orphanet.ordo:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0270853 semapv:UnspecifiedMatching -orphanet.ordo:3071 Costello syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3071 Costello syndrome oboInOwl:hasDbXref MESH:D056685 semapv:UnspecifiedMatching -orphanet.ordo:3071 Costello syndrome oboInOwl:hasDbXref MeSH:D056685 semapv:UnspecifiedMatching -orphanet.ordo:3071 Costello syndrome oboInOwl:hasDbXref MedDRA:10067380 semapv:UnspecifiedMatching -orphanet.ordo:3071 Costello syndrome oboInOwl:hasDbXref OMIM:218040 semapv:UnspecifiedMatching -orphanet.ordo:3071 Costello syndrome oboInOwl:hasDbXref UMLS:C0587248 semapv:UnspecifiedMatching -orphanet.ordo:307141 Diffuse palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0022584 semapv:UnspecifiedMatching -orphanet.ordo:307148 Isolated diffuse palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0022584 semapv:UnspecifiedMatching -orphanet.ordo:3074 Intellectual disability-short stature-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10:F71.1 semapv:UnspecifiedMatching -orphanet.ordo:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref OMIM:300055 semapv:UnspecifiedMatching -orphanet.ordo:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref UMLS:C3713418 semapv:UnspecifiedMatching -orphanet.ordo:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref OMIM:607656 semapv:UnspecifiedMatching -orphanet.ordo:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref UMLS:C1843291 semapv:UnspecifiedMatching -orphanet.ordo:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref ICD10:F72.9 semapv:UnspecifiedMatching -orphanet.ordo:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref OMIM:309555 semapv:UnspecifiedMatching -orphanet.ordo:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref UMLS:C0795965 semapv:UnspecifiedMatching -orphanet.ordo:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref OMIM:249630 semapv:UnspecifiedMatching -orphanet.ordo:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref UMLS:C0796080 semapv:UnspecifiedMatching -orphanet.ordo:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607658 semapv:UnspecifiedMatching -orphanet.ordo:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C1843285 semapv:UnspecifiedMatching -orphanet.ordo:307967 Punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1274216 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MESH:D020194 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MeSH:D020194 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MedDRA:10054895 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:254800 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:612437 semapv:UnspecifiedMatching -orphanet.ordo:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref UMLS:C0751785 semapv:UnspecifiedMatching -orphanet.ordo:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref OMIM:277990 semapv:UnspecifiedMatching -orphanet.ordo:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref UMLS:C1848439 semapv:UnspecifiedMatching -orphanet.ordo:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref UMLS:C1302839 semapv:UnspecifiedMatching -orphanet.ordo:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref UMLS:C2931547 semapv:UnspecifiedMatching -orphanet.ordo:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -orphanet.ordo:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref UMLS:C1848552 semapv:UnspecifiedMatching -orphanet.ordo:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching -orphanet.ordo:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS:C1854988 semapv:UnspecifiedMatching -orphanet.ordo:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching -orphanet.ordo:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS:C1854989 semapv:UnspecifiedMatching -orphanet.ordo:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref OMIM:268050 semapv:UnspecifiedMatching -orphanet.ordo:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref UMLS:C0796072 semapv:UnspecifiedMatching -orphanet.ordo:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching -orphanet.ordo:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref UMLS:C1854990 semapv:UnspecifiedMatching -orphanet.ordo:308407 Disorder of beta and omega amino acid metabolism oboInOwl:hasDbXref UMLS:C0342707 semapv:UnspecifiedMatching -orphanet.ordo:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref OMIM:614923 semapv:UnspecifiedMatching -orphanet.ordo:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref OMIM:251120 semapv:UnspecifiedMatching -orphanet.ordo:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref UMLS:C1855100 semapv:UnspecifiedMatching -orphanet.ordo:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -orphanet.ordo:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref UMLS:C1848552 semapv:UnspecifiedMatching -orphanet.ordo:308463 Disorder of fructose metabolism oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching -orphanet.ordo:308463 Disorder of fructose metabolism oboInOwl:hasDbXref UMLS:C0342744 semapv:UnspecifiedMatching -orphanet.ordo:308467 Disorder of galactose metabolism oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching -orphanet.ordo:308467 Disorder of galactose metabolism oboInOwl:hasDbXref UMLS:C0342745 semapv:UnspecifiedMatching -orphanet.ordo:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching -orphanet.ordo:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching -orphanet.ordo:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching -orphanet.ordo:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching -orphanet.ordo:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref OMIM:268020 semapv:UnspecifiedMatching -orphanet.ordo:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1849401 semapv:UnspecifiedMatching -orphanet.ordo:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref UMLS:C3888924 semapv:UnspecifiedMatching -orphanet.ordo:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 semapv:UnspecifiedMatching -orphanet.ordo:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MeSH:C536352 semapv:UnspecifiedMatching -orphanet.ordo:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching -orphanet.ordo:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS:C3888099 semapv:UnspecifiedMatching -orphanet.ordo:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref UMLS:C1856303 semapv:UnspecifiedMatching -orphanet.ordo:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref UMLS:C1856304 semapv:UnspecifiedMatching -orphanet.ordo:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref MedDRA:10053250 semapv:UnspecifiedMatching -orphanet.ordo:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref UMLS:C0017922 semapv:UnspecifiedMatching -orphanet.ordo:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref UMLS:C1856305 semapv:UnspecifiedMatching -orphanet.ordo:3087 Retinohepatoendocrinologic syndrome oboInOwl:hasDbXref OMIM:268040 semapv:UnspecifiedMatching -orphanet.ordo:3087 Retinohepatoendocrinologic syndrome oboInOwl:hasDbXref UMLS:C1849399 semapv:UnspecifiedMatching -orphanet.ordo:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:3088 Revesz syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:3088 Revesz syndrome oboInOwl:hasDbXref OMIM:268130 semapv:UnspecifiedMatching -orphanet.ordo:3088 Revesz syndrome oboInOwl:hasDbXref UMLS:C1327916 semapv:UnspecifiedMatching -orphanet.ordo:308993 Glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0268418 semapv:UnspecifiedMatching -orphanet.ordo:3090 Congenital pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C0265916 semapv:UnspecifiedMatching -orphanet.ordo:309005 Disorder of lipid metabolism oboInOwl:hasDbXref MedDRA:10061227 semapv:UnspecifiedMatching -orphanet.ordo:309005 Disorder of lipid metabolism oboInOwl:hasDbXref UMLS:C0154251 semapv:UnspecifiedMatching -orphanet.ordo:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching -orphanet.ordo:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching -orphanet.ordo:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching -orphanet.ordo:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref UMLS:C0023817 semapv:UnspecifiedMatching -orphanet.ordo:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching -orphanet.ordo:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching -orphanet.ordo:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C0268199 semapv:UnspecifiedMatching -orphanet.ordo:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref MedDRA:10072221 semapv:UnspecifiedMatching -orphanet.ordo:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref UMLS:C0342731 semapv:UnspecifiedMatching -orphanet.ordo:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching -orphanet.ordo:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching -orphanet.ordo:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref UMLS:C0268240 semapv:UnspecifiedMatching -orphanet.ordo:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching -orphanet.ordo:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching -orphanet.ordo:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref UMLS:C0268241 semapv:UnspecifiedMatching -orphanet.ordo:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching -orphanet.ordo:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching -orphanet.ordo:309120 Acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268635 semapv:UnspecifiedMatching -orphanet.ordo:309127 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1291230 semapv:UnspecifiedMatching -orphanet.ordo:309144 Gangliosidosis oboInOwl:hasDbXref UMLS:C0017083 semapv:UnspecifiedMatching -orphanet.ordo:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref OMIM:237400 semapv:UnspecifiedMatching -orphanet.ordo:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref UMLS:C0268630 semapv:UnspecifiedMatching -orphanet.ordo:309152 GM2 gangliosidosis oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309152 GM2 gangliosidosis oboInOwl:hasDbXref UMLS:C0268274 semapv:UnspecifiedMatching -orphanet.ordo:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching -orphanet.ordo:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref UMLS:C0751490 semapv:UnspecifiedMatching -orphanet.ordo:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching -orphanet.ordo:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref UMLS:C0751491 semapv:UnspecifiedMatching -orphanet.ordo:309169 Sandhoff disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309169 Sandhoff disease, adult form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching -orphanet.ordo:309169 Sandhoff disease, adult form oboInOwl:hasDbXref UMLS:C0751489 semapv:UnspecifiedMatching -orphanet.ordo:309178 Tay-Sachs disease, B variant, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309185 Tay-Sachs disease, B variant, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309192 Tay-Sachs disease, B variant, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309192 Tay-Sachs disease, B variant, adult form oboInOwl:hasDbXref UMLS:C1848914 semapv:UnspecifiedMatching -orphanet.ordo:3092 Fixed subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching -orphanet.ordo:3092 Fixed subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching -orphanet.ordo:3092 Fixed subaortic stenosis oboInOwl:hasDbXref UMLS:C1848979 semapv:UnspecifiedMatching -orphanet.ordo:309239 Tay-Sachs disease, B1 variant oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309239 Tay-Sachs disease, B1 variant oboInOwl:hasDbXref UMLS:C1848916 semapv:UnspecifiedMatching -orphanet.ordo:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref OMIM:602014 semapv:UnspecifiedMatching -orphanet.ordo:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref UMLS:C1865974 semapv:UnspecifiedMatching -orphanet.ordo:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching -orphanet.ordo:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 semapv:UnspecifiedMatching -orphanet.ordo:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -orphanet.ordo:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching -orphanet.ordo:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching -orphanet.ordo:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching -orphanet.ordo:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref UMLS:C1864651 semapv:UnspecifiedMatching -orphanet.ordo:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref UMLS:C0751278 semapv:UnspecifiedMatching -orphanet.ordo:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref UMLS:C0751276 semapv:UnspecifiedMatching -orphanet.ordo:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref UMLS:C0751279 semapv:UnspecifiedMatching -orphanet.ordo:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching -orphanet.ordo:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching -orphanet.ordo:309294 Sialidosis oboInOwl:hasDbXref MedDRA:10058800 semapv:UnspecifiedMatching -orphanet.ordo:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching -orphanet.ordo:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref UMLS:C0086651 semapv:UnspecifiedMatching -orphanet.ordo:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching -orphanet.ordo:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref MedDRA:10010371 semapv:UnspecifiedMatching -orphanet.ordo:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref UMLS:C0152417 semapv:UnspecifiedMatching -orphanet.ordo:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching -orphanet.ordo:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref UMLS:C0086652 semapv:UnspecifiedMatching -orphanet.ordo:309319 Disorder of sialic acid metabolism oboInOwl:hasDbXref UMLS:C0342851 semapv:UnspecifiedMatching -orphanet.ordo:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref MedDRA:10067532 semapv:UnspecifiedMatching -orphanet.ordo:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching -orphanet.ordo:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref UMLS:C1963905 semapv:UnspecifiedMatching -orphanet.ordo:309331 Intermediate severe Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:309334 Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:309334 Salla disease oboInOwl:hasDbXref MedDRA:10067531 semapv:UnspecifiedMatching -orphanet.ordo:309334 Salla disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching -orphanet.ordo:309334 Salla disease oboInOwl:hasDbXref UMLS:C1096903 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617903 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617904 semapv:UnspecifiedMatching -orphanet.ordo:3095 Atypical Rett syndrome oboInOwl:hasDbXref UMLS:C2748910 semapv:UnspecifiedMatching -orphanet.ordo:3096 Reye syndrome oboInOwl:hasDbXref ICD10:G93.7 semapv:UnspecifiedMatching -orphanet.ordo:3096 Reye syndrome oboInOwl:hasDbXref MESH:D012202 semapv:UnspecifiedMatching -orphanet.ordo:3096 Reye syndrome oboInOwl:hasDbXref MeSH:D012202 semapv:UnspecifiedMatching -orphanet.ordo:3096 Reye syndrome oboInOwl:hasDbXref MedDRA:10039012 semapv:UnspecifiedMatching -orphanet.ordo:3096 Reye syndrome oboInOwl:hasDbXref UMLS:C0035400 semapv:UnspecifiedMatching -orphanet.ordo:3097 Meacham syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3097 Meacham syndrome oboInOwl:hasDbXref OMIM:608978 semapv:UnspecifiedMatching -orphanet.ordo:3097 Meacham syndrome oboInOwl:hasDbXref UMLS:C1837026 semapv:UnspecifiedMatching -orphanet.ordo:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching -orphanet.ordo:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref UMLS:C1859133 semapv:UnspecifiedMatching -orphanet.ordo:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching -orphanet.ordo:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref UMLS:C1857242 semapv:UnspecifiedMatching -orphanet.ordo:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref MESH:C537611 semapv:UnspecifiedMatching -orphanet.ordo:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref MeSH:C537611 semapv:UnspecifiedMatching -orphanet.ordo:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref OMIM:268250 semapv:UnspecifiedMatching -orphanet.ordo:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref UMLS:C1849382 semapv:UnspecifiedMatching -orphanet.ordo:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching -orphanet.ordo:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref UMLS:C1838612 semapv:UnspecifiedMatching -orphanet.ordo:309830 Disorder of catecholamine synthesis oboInOwl:hasDbXref UMLS:C0342685 semapv:UnspecifiedMatching -orphanet.ordo:309839 Disorder of copper metabolism oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching -orphanet.ordo:309839 Disorder of copper metabolism oboInOwl:hasDbXref MedDRA:10061091 semapv:UnspecifiedMatching -orphanet.ordo:309839 Disorder of copper metabolism oboInOwl:hasDbXref UMLS:C0012714 semapv:UnspecifiedMatching -orphanet.ordo:309842 Disorder of iron metabolism and transport oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching -orphanet.ordo:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref MedDRA:10048260 semapv:UnspecifiedMatching -orphanet.ordo:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref UMLS:C0268085 semapv:UnspecifiedMatching -orphanet.ordo:309848 Disorder of magnesium transport oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:613280 semapv:UnspecifiedMatching -orphanet.ordo:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref UMLS:C2750442 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I00 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.0 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.1 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.2 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.8 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.9 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref MESH:D012213 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref MeSH:D012213 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref MedDRA:10039054 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref OMIM:268240 semapv:UnspecifiedMatching -orphanet.ordo:3099 Rheumatic fever oboInOwl:hasDbXref UMLS:C0035436 semapv:UnspecifiedMatching -orphanet.ordo:31 Oxoglutaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:31 Oxoglutaric aciduria oboInOwl:hasDbXref MESH:C536582 semapv:UnspecifiedMatching -orphanet.ordo:31 Oxoglutaric aciduria oboInOwl:hasDbXref MeSH:C536582 semapv:UnspecifiedMatching -orphanet.ordo:31 Oxoglutaric aciduria oboInOwl:hasDbXref OMIM:203740 semapv:UnspecifiedMatching -orphanet.ordo:31 Oxoglutaric aciduria oboInOwl:hasDbXref UMLS:C2752074 semapv:UnspecifiedMatching -orphanet.ordo:310 Reflex epilepsy oboInOwl:hasDbXref MESH:D020195 semapv:UnspecifiedMatching -orphanet.ordo:310 Reflex epilepsy oboInOwl:hasDbXref MeSH:D020195 semapv:UnspecifiedMatching -orphanet.ordo:310 Reflex epilepsy oboInOwl:hasDbXref UMLS:C0270857 semapv:UnspecifiedMatching -orphanet.ordo:310050 Acquired immunodeficiency oboInOwl:hasDbXref UMLS:C0001175 semapv:UnspecifiedMatching -orphanet.ordo:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref MESH:C535675 semapv:UnspecifiedMatching -orphanet.ordo:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref MeSH:C535675 semapv:UnspecifiedMatching -orphanet.ordo:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref OMIM:255710 semapv:UnspecifiedMatching -orphanet.ordo:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref UMLS:C2930978 semapv:UnspecifiedMatching -orphanet.ordo:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref MESH:C535677 semapv:UnspecifiedMatching -orphanet.ordo:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref MeSH:C535677 semapv:UnspecifiedMatching -orphanet.ordo:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref OMIM:268305 semapv:UnspecifiedMatching -orphanet.ordo:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref UMLS:C1849348 semapv:UnspecifiedMatching -orphanet.ordo:3103 Roberts syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:3103 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching -orphanet.ordo:3103 Roberts syndrome oboInOwl:hasDbXref MeSH:C535687 semapv:UnspecifiedMatching -orphanet.ordo:3103 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching -orphanet.ordo:3103 Roberts syndrome oboInOwl:hasDbXref UMLS:C0392475 semapv:UnspecifiedMatching -orphanet.ordo:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref MESH:C535688 semapv:UnspecifiedMatching -orphanet.ordo:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref MeSH:C535688 semapv:UnspecifiedMatching -orphanet.ordo:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref OMIM:172880 semapv:UnspecifiedMatching -orphanet.ordo:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref UMLS:C1868309 semapv:UnspecifiedMatching -orphanet.ordo:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref OMIM:248250 semapv:UnspecifiedMatching -orphanet.ordo:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref MESH:C537183 semapv:UnspecifiedMatching -orphanet.ordo:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref MeSH:C537183 semapv:UnspecifiedMatching -orphanet.ordo:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching -orphanet.ordo:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref UMLS:C1867146 semapv:UnspecifiedMatching -orphanet.ordo:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching -orphanet.ordo:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching -orphanet.ordo:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching -orphanet.ordo:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:UnspecifiedMatching -orphanet.ordo:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching -orphanet.ordo:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref MedDRA:10065148 semapv:UnspecifiedMatching -orphanet.ordo:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching -orphanet.ordo:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching -orphanet.ordo:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref UMLS:C1698581 semapv:UnspecifiedMatching -orphanet.ordo:3110 Rombo syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:3110 Rombo syndrome oboInOwl:hasDbXref MESH:C535870 semapv:UnspecifiedMatching -orphanet.ordo:3110 Rombo syndrome oboInOwl:hasDbXref MeSH:C535870 semapv:UnspecifiedMatching -orphanet.ordo:3110 Rombo syndrome oboInOwl:hasDbXref OMIM:180730 semapv:UnspecifiedMatching -orphanet.ordo:3110 Rombo syndrome oboInOwl:hasDbXref UMLS:C1867147 semapv:UnspecifiedMatching -orphanet.ordo:3111 Rotor syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching -orphanet.ordo:3111 Rotor syndrome oboInOwl:hasDbXref MedDRA:10039234 semapv:UnspecifiedMatching -orphanet.ordo:3111 Rotor syndrome oboInOwl:hasDbXref OMIM:237450 semapv:UnspecifiedMatching -orphanet.ordo:3111 Rotor syndrome oboInOwl:hasDbXref UMLS:C0220991 semapv:UnspecifiedMatching -orphanet.ordo:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:C538219 semapv:UnspecifiedMatching -orphanet.ordo:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MeSH:C538219 semapv:UnspecifiedMatching -orphanet.ordo:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MedDRA:10057070 semapv:UnspecifiedMatching -orphanet.ordo:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching -orphanet.ordo:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS:C0392784 semapv:UnspecifiedMatching -orphanet.ordo:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref MESH:C536307 semapv:UnspecifiedMatching -orphanet.ordo:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref MeSH:C536307 semapv:UnspecifiedMatching -orphanet.ordo:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref OMIM:168850 semapv:UnspecifiedMatching -orphanet.ordo:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref UMLS:C1868581 semapv:UnspecifiedMatching -orphanet.ordo:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref OMIM:180800 semapv:UnspecifiedMatching -orphanet.ordo:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref UMLS:C0205713 semapv:UnspecifiedMatching -orphanet.ordo:31150 Tangier disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:31150 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching -orphanet.ordo:31150 Tangier disease oboInOwl:hasDbXref MeSH:D013631 semapv:UnspecifiedMatching -orphanet.ordo:31150 Tangier disease oboInOwl:hasDbXref MedDRA:10051875 semapv:UnspecifiedMatching -orphanet.ordo:31150 Tangier disease oboInOwl:hasDbXref OMIM:205400 semapv:UnspecifiedMatching -orphanet.ordo:31150 Tangier disease oboInOwl:hasDbXref UMLS:C0039292 semapv:UnspecifiedMatching -orphanet.ordo:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MESH:D052456 semapv:UnspecifiedMatching -orphanet.ordo:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MeSH:D052456 semapv:UnspecifiedMatching -orphanet.ordo:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MedDRA:10065156 semapv:UnspecifiedMatching -orphanet.ordo:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref UMLS:C0473527 semapv:UnspecifiedMatching -orphanet.ordo:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref MESH:D006995 semapv:UnspecifiedMatching -orphanet.ordo:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref MeSH:D006995 semapv:UnspecifiedMatching -orphanet.ordo:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020597 semapv:UnspecifiedMatching -orphanet.ordo:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3118 Rudiger syndrome oboInOwl:hasDbXref OMIM:268650 semapv:UnspecifiedMatching -orphanet.ordo:3118 Rudiger syndrome oboInOwl:hasDbXref UMLS:C3502049 semapv:UnspecifiedMatching -orphanet.ordo:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching -orphanet.ordo:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:113800 semapv:UnspecifiedMatching -orphanet.ordo:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 semapv:UnspecifiedMatching -orphanet.ordo:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0079153 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.1 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.2 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.3 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.4 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref MESH:D008554 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref MeSH:D008554 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref MedDRA:10069748 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref OMIM:615557 semapv:UnspecifiedMatching -orphanet.ordo:31202 Melioidosis oboInOwl:hasDbXref UMLS:C0025229 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.0 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.1 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.8 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.9 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref MESH:C536125 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref MeSH:C536125 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref MedDRA:10029444 semapv:UnspecifiedMatching -orphanet.ordo:31204 Nocardiosis oboInOwl:hasDbXref UMLS:C0028242 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.9 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref MESH:D011906 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref MeSH:D011906 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref MedDRA:10037904 semapv:UnspecifiedMatching -orphanet.ordo:31205 Rat-bite fever oboInOwl:hasDbXref UMLS:C0034686 semapv:UnspecifiedMatching -orphanet.ordo:3121 Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3121 Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:180870 semapv:UnspecifiedMatching -orphanet.ordo:3121 Ruvalcaba syndrome oboInOwl:hasDbXref UMLS:C0265248 semapv:UnspecifiedMatching -orphanet.ordo:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref MESH:C536320 semapv:UnspecifiedMatching -orphanet.ordo:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref MeSH:C536320 semapv:UnspecifiedMatching -orphanet.ordo:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref OMIM:211390 semapv:UnspecifiedMatching -orphanet.ordo:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref UMLS:C0796271 semapv:UnspecifiedMatching -orphanet.ordo:3124 Saccharopinuria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:3124 Saccharopinuria oboInOwl:hasDbXref MESH:C537218 semapv:UnspecifiedMatching -orphanet.ordo:3124 Saccharopinuria oboInOwl:hasDbXref MeSH:C537218 semapv:UnspecifiedMatching -orphanet.ordo:3124 Saccharopinuria oboInOwl:hasDbXref OMIM:268700 semapv:UnspecifiedMatching -orphanet.ordo:3124 Saccharopinuria oboInOwl:hasDbXref UMLS:C0268556 semapv:UnspecifiedMatching -orphanet.ordo:3129 Sarcosinemia oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:3129 Sarcosinemia oboInOwl:hasDbXref MESH:C537236 semapv:UnspecifiedMatching -orphanet.ordo:3129 Sarcosinemia oboInOwl:hasDbXref MeSH:C537236 semapv:UnspecifiedMatching -orphanet.ordo:3129 Sarcosinemia oboInOwl:hasDbXref MedDRA:10059299 semapv:UnspecifiedMatching -orphanet.ordo:3129 Sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching -orphanet.ordo:3129 Sarcosinemia oboInOwl:hasDbXref UMLS:C0268563 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref MESH:D017490 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref MeSH:D017490 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref MedDRA:10023686 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:146750 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:601277 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:604777 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:613943 semapv:UnspecifiedMatching -orphanet.ordo:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:617571 semapv:UnspecifiedMatching -orphanet.ordo:3130 Satoyoshi syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:3130 Satoyoshi syndrome oboInOwl:hasDbXref MESH:C536616 semapv:UnspecifiedMatching -orphanet.ordo:3130 Satoyoshi syndrome oboInOwl:hasDbXref MeSH:C536616 semapv:UnspecifiedMatching -orphanet.ordo:3130 Satoyoshi syndrome oboInOwl:hasDbXref MedDRA:10070579 semapv:UnspecifiedMatching -orphanet.ordo:3130 Satoyoshi syndrome oboInOwl:hasDbXref OMIM:600705 semapv:UnspecifiedMatching -orphanet.ordo:3130 Satoyoshi syndrome oboInOwl:hasDbXref UMLS:C1833454 semapv:UnspecifiedMatching -orphanet.ordo:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref MESH:C536618 semapv:UnspecifiedMatching -orphanet.ordo:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref MeSH:C536618 semapv:UnspecifiedMatching -orphanet.ordo:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref OMIM:251240 semapv:UnspecifiedMatching -orphanet.ordo:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref UMLS:C2931267 semapv:UnspecifiedMatching -orphanet.ordo:3134 SCARF syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:3134 SCARF syndrome oboInOwl:hasDbXref MESH:C536625 semapv:UnspecifiedMatching -orphanet.ordo:3134 SCARF syndrome oboInOwl:hasDbXref MeSH:C536625 semapv:UnspecifiedMatching -orphanet.ordo:3134 SCARF syndrome oboInOwl:hasDbXref OMIM:312830 semapv:UnspecifiedMatching -orphanet.ordo:3134 SCARF syndrome oboInOwl:hasDbXref UMLS:C1839321 semapv:UnspecifiedMatching -orphanet.ordo:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching -orphanet.ordo:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching -orphanet.ordo:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching -orphanet.ordo:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref UMLS:C1836544 semapv:UnspecifiedMatching -orphanet.ordo:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref OMIM:614487 semapv:UnspecifiedMatching -orphanet.ordo:313781 20p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:313795 Jawad syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:313795 Jawad syndrome oboInOwl:hasDbXref OMIM:251255 semapv:UnspecifiedMatching -orphanet.ordo:313795 Jawad syndrome oboInOwl:hasDbXref UMLS:C0796063 semapv:UnspecifiedMatching -orphanet.ordo:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching -orphanet.ordo:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MESH:C536937 semapv:UnspecifiedMatching -orphanet.ordo:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MeSH:C536937 semapv:UnspecifiedMatching -orphanet.ordo:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref OMIM:181450 semapv:UnspecifiedMatching -orphanet.ordo:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref UMLS:C1866994 semapv:UnspecifiedMatching -orphanet.ordo:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref OMIM:614979 semapv:UnspecifiedMatching -orphanet.ordo:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching -orphanet.ordo:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref UMLS:C3711381 semapv:UnspecifiedMatching -orphanet.ordo:313838 Coats plus syndrome oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:313838 Coats plus syndrome oboInOwl:hasDbXref OMIM:612199 semapv:UnspecifiedMatching -orphanet.ordo:313838 Coats plus syndrome oboInOwl:hasDbXref OMIM:617341 semapv:UnspecifiedMatching -orphanet.ordo:313838 Coats plus syndrome oboInOwl:hasDbXref UMLS:C2677299 semapv:UnspecifiedMatching -orphanet.ordo:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C10.9 semapv:UnspecifiedMatching -orphanet.ordo:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref OMIM:614564 semapv:UnspecifiedMatching -orphanet.ordo:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref OMIM:614559 semapv:UnspecifiedMatching -orphanet.ordo:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching -orphanet.ordo:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:616803 semapv:UnspecifiedMatching -orphanet.ordo:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref OMIM:616803 semapv:UnspecifiedMatching -orphanet.ordo:313906 Congenital pancreatic cyst oboInOwl:hasDbXref ICD10:Q45.2 semapv:UnspecifiedMatching -orphanet.ordo:313906 Congenital pancreatic cyst oboInOwl:hasDbXref UMLS:C0341480 semapv:UnspecifiedMatching -orphanet.ordo:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching -orphanet.ordo:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching -orphanet.ordo:313936 PENS syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:313947 2q23.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 semapv:UnspecifiedMatching -orphanet.ordo:314 Erythroderma desquamativum oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching -orphanet.ordo:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching -orphanet.ordo:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref UMLS:C4751075 semapv:UnspecifiedMatching -orphanet.ordo:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching -orphanet.ordo:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching -orphanet.ordo:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref OMIM:619182 semapv:UnspecifiedMatching -orphanet.ordo:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:314034 7p22.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref OMIM:614924 semapv:UnspecifiedMatching -orphanet.ordo:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching -orphanet.ordo:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref OMIM:269200 semapv:UnspecifiedMatching -orphanet.ordo:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref UMLS:C0085860 semapv:UnspecifiedMatching -orphanet.ordo:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching -orphanet.ordo:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref OMIM:614616 semapv:UnspecifiedMatching -orphanet.ordo:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref ICD10:P76.0 semapv:UnspecifiedMatching -orphanet.ordo:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref OMIM:614665 semapv:UnspecifiedMatching -orphanet.ordo:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref OMIM:614653 semapv:UnspecifiedMatching -orphanet.ordo:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:614813 semapv:UnspecifiedMatching -orphanet.ordo:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref OMIM:614675 semapv:UnspecifiedMatching -orphanet.ordo:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref MESH:C536637 semapv:UnspecifiedMatching -orphanet.ordo:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref MeSH:C536637 semapv:UnspecifiedMatching -orphanet.ordo:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref OMIM:269250 semapv:UnspecifiedMatching -orphanet.ordo:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref UMLS:C0432194 semapv:UnspecifiedMatching -orphanet.ordo:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref OMIM:604121 semapv:UnspecifiedMatching -orphanet.ordo:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching -orphanet.ordo:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching -orphanet.ordo:314419 Ameloblastoma oboInOwl:hasDbXref MedDRA:10066796 semapv:UnspecifiedMatching -orphanet.ordo:314419 Ameloblastoma oboInOwl:hasDbXref UMLS:C0002448 semapv:UnspecifiedMatching -orphanet.ordo:314422 Ameloblastic carcinoma oboInOwl:hasDbXref ICD10:C41.1 semapv:UnspecifiedMatching -orphanet.ordo:314422 Ameloblastic carcinoma oboInOwl:hasDbXref UMLS:C1314678 semapv:UnspecifiedMatching -orphanet.ordo:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching -orphanet.ordo:314451 Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:314451 Meigs syndrome oboInOwl:hasDbXref MedDRA:10027139 semapv:UnspecifiedMatching -orphanet.ordo:314451 Meigs syndrome oboInOwl:hasDbXref UMLS:C0025184 semapv:UnspecifiedMatching -orphanet.ordo:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching -orphanet.ordo:314466 Atypical Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:314473 Ovarian fibroma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:314473 Ovarian fibroma oboInOwl:hasDbXref MedDRA:10064257 semapv:UnspecifiedMatching -orphanet.ordo:314473 Ovarian fibroma oboInOwl:hasDbXref UMLS:C0149951 semapv:UnspecifiedMatching -orphanet.ordo:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching -orphanet.ordo:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:619216 semapv:UnspecifiedMatching -orphanet.ordo:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching -orphanet.ordo:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:221995 semapv:UnspecifiedMatching -orphanet.ordo:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C2931070 semapv:UnspecifiedMatching -orphanet.ordo:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref OMIM:611174 semapv:UnspecifiedMatching -orphanet.ordo:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C1970027 semapv:UnspecifiedMatching -orphanet.ordo:314566 Primary progressive apraxia of speech oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:314585 15q overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:314585 15q overgrowth syndrome oboInOwl:hasDbXref OMIM:614846 semapv:UnspecifiedMatching -orphanet.ordo:314588 Distal triplication 15q oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:314588 Distal triplication 15q oboInOwl:hasDbXref OMIM:614846 semapv:UnspecifiedMatching -orphanet.ordo:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref OMIM:604213 semapv:UnspecifiedMatching -orphanet.ordo:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref UMLS:C1858695 semapv:UnspecifiedMatching -orphanet.ordo:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref OMIM:611390 semapv:UnspecifiedMatching -orphanet.ordo:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref UMLS:C1969645 semapv:UnspecifiedMatching -orphanet.ordo:314613 Growing teratoma syndrome oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching -orphanet.ordo:314621 Duplication of the pituitary gland oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching -orphanet.ordo:314629 CLN11 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:314629 CLN11 disease oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching -orphanet.ordo:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching -orphanet.ordo:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref OMIM:614702 semapv:UnspecifiedMatching -orphanet.ordo:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref OMIM:614756 semapv:UnspecifiedMatching -orphanet.ordo:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching -orphanet.ordo:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:314667 TMEM165-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:314667 TMEM165-CDG oboInOwl:hasDbXref OMIM:614727 semapv:UnspecifiedMatching -orphanet.ordo:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref OMIM:601390 semapv:UnspecifiedMatching -orphanet.ordo:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref OMIM:615546 semapv:UnspecifiedMatching -orphanet.ordo:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref UMLS:C1832390 semapv:UnspecifiedMatching -orphanet.ordo:314684 Primary bone lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref OMIM:614868 semapv:UnspecifiedMatching -orphanet.ordo:314697 Acquired porencephaly oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching -orphanet.ordo:314697 Acquired porencephaly oboInOwl:hasDbXref UMLS:C0151860 semapv:UnspecifiedMatching -orphanet.ordo:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching -orphanet.ordo:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.2 semapv:UnspecifiedMatching -orphanet.ordo:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching -orphanet.ordo:314701 Primary systemic amyloidosis oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching -orphanet.ordo:314709 Primary localized amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching -orphanet.ordo:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching -orphanet.ordo:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref OMIM:614437 semapv:UnspecifiedMatching -orphanet.ordo:314721 Atypical dentin dysplasia due to SMOC2 deficiency oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:314721 Atypical dentin dysplasia due to SMOC2 deficiency oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching -orphanet.ordo:314753 Functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0854486 semapv:UnspecifiedMatching -orphanet.ordo:314759 Mixed functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0346305 semapv:UnspecifiedMatching -orphanet.ordo:314769 Somatomammotropinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching -orphanet.ordo:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref UMLS:C1863340 semapv:UnspecifiedMatching -orphanet.ordo:314786 Silent pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:314790 Null pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:314795 SHOX-related short stature oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:314795 SHOX-related short stature oboInOwl:hasDbXref OMIM:300582 semapv:UnspecifiedMatching -orphanet.ordo:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching -orphanet.ordo:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref MedDRA:10029236 semapv:UnspecifiedMatching -orphanet.ordo:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C0751690 semapv:UnspecifiedMatching -orphanet.ordo:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref OMIM:604271 semapv:UnspecifiedMatching -orphanet.ordo:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref OMIM:615925 semapv:UnspecifiedMatching -orphanet.ordo:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:314911 Severe Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:314911 Severe Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching -orphanet.ordo:314918 Mild Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:314918 Mild Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching -orphanet.ordo:314918 Mild Canavan disease oboInOwl:hasDbXref UMLS:C0751667 semapv:UnspecifiedMatching -orphanet.ordo:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus oboInOwl:hasDbXref ICD10:G91.2 semapv:UnspecifiedMatching -orphanet.ordo:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching -orphanet.ordo:314962 Secondary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching -orphanet.ordo:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching -orphanet.ordo:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching -orphanet.ordo:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching -orphanet.ordo:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref OMIM:608227 semapv:UnspecifiedMatching -orphanet.ordo:315 Erythrokeratoderma ''en cocardes'' oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching -orphanet.ordo:3152 Sclerosteosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching -orphanet.ordo:3152 Sclerosteosis oboInOwl:hasDbXref MESH:C537525 semapv:UnspecifiedMatching -orphanet.ordo:3152 Sclerosteosis oboInOwl:hasDbXref MeSH:C537525 semapv:UnspecifiedMatching -orphanet.ordo:3152 Sclerosteosis oboInOwl:hasDbXref OMIM:269500 semapv:UnspecifiedMatching -orphanet.ordo:3152 Sclerosteosis oboInOwl:hasDbXref OMIM:614305 semapv:UnspecifiedMatching -orphanet.ordo:3152 Sclerosteosis oboInOwl:hasDbXref UMLS:C0265301 semapv:UnspecifiedMatching -orphanet.ordo:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching -orphanet.ordo:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref MESH:C537580 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref MeSH:C537580 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:266900 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606995 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606996 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:609254 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:610189 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:613615 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:614845 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616307 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616629 semapv:UnspecifiedMatching -orphanet.ordo:3156 Senior-Loken syndrome oboInOwl:hasDbXref UMLS:C0403553 semapv:UnspecifiedMatching -orphanet.ordo:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching -orphanet.ordo:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MESH:D025962 semapv:UnspecifiedMatching -orphanet.ordo:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MeSH:D025962 semapv:UnspecifiedMatching -orphanet.ordo:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MedDRA:10067159 semapv:UnspecifiedMatching -orphanet.ordo:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching -orphanet.ordo:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref UMLS:C0338503 semapv:UnspecifiedMatching -orphanet.ordo:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching -orphanet.ordo:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:617756 semapv:UnspecifiedMatching -orphanet.ordo:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:618531 semapv:UnspecifiedMatching -orphanet.ordo:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:619209 semapv:UnspecifiedMatching -orphanet.ordo:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching -orphanet.ordo:3162 Sézary syndrome oboInOwl:hasDbXref ICD10:C84.1 semapv:UnspecifiedMatching -orphanet.ordo:3162 Sézary syndrome oboInOwl:hasDbXref MESH:D012751 semapv:UnspecifiedMatching -orphanet.ordo:3162 Sézary syndrome oboInOwl:hasDbXref MeSH:D012751 semapv:UnspecifiedMatching -orphanet.ordo:3162 Sézary syndrome oboInOwl:hasDbXref MedDRA:10040493 semapv:UnspecifiedMatching -orphanet.ordo:3162 Sézary syndrome oboInOwl:hasDbXref UMLS:C0036920 semapv:UnspecifiedMatching -orphanet.ordo:316226 Spastic ataxia oboInOwl:hasDbXref UMLS:C1849156 semapv:UnspecifiedMatching -orphanet.ordo:3163 SHORT syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3163 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching -orphanet.ordo:3163 SHORT syndrome oboInOwl:hasDbXref MeSH:C537327 semapv:UnspecifiedMatching -orphanet.ordo:3163 SHORT syndrome oboInOwl:hasDbXref OMIM:269880 semapv:UnspecifiedMatching -orphanet.ordo:3163 SHORT syndrome oboInOwl:hasDbXref UMLS:C0878684 semapv:UnspecifiedMatching -orphanet.ordo:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching -orphanet.ordo:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref OMIM:182210 semapv:UnspecifiedMatching -orphanet.ordo:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref UMLS:C1866958 semapv:UnspecifiedMatching -orphanet.ordo:3165 Eosinophilic fasciitis oboInOwl:hasDbXref ICD10:M35.4 semapv:UnspecifiedMatching -orphanet.ordo:3165 Eosinophilic fasciitis oboInOwl:hasDbXref MedDRA:10014954 semapv:UnspecifiedMatching -orphanet.ordo:3165 Eosinophilic fasciitis oboInOwl:hasDbXref OMIM:226350 semapv:UnspecifiedMatching -orphanet.ordo:3165 Eosinophilic fasciitis oboInOwl:hasDbXref UMLS:C0264005 semapv:UnspecifiedMatching -orphanet.ordo:3166 Sialuria oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:3166 Sialuria oboInOwl:hasDbXref MESH:C537332 semapv:UnspecifiedMatching -orphanet.ordo:3166 Sialuria oboInOwl:hasDbXref MeSH:C537332 semapv:UnspecifiedMatching -orphanet.ordo:3166 Sialuria oboInOwl:hasDbXref MedDRA:10067529 semapv:UnspecifiedMatching -orphanet.ordo:3166 Sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching -orphanet.ordo:3166 Sialuria oboInOwl:hasDbXref UMLS:C0342853 semapv:UnspecifiedMatching -orphanet.ordo:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching -orphanet.ordo:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref MESH:C537335 semapv:UnspecifiedMatching -orphanet.ordo:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref MeSH:C537335 semapv:UnspecifiedMatching -orphanet.ordo:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref UMLS:C2931473 semapv:UnspecifiedMatching -orphanet.ordo:3168 Sillence syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:3168 Sillence syndrome oboInOwl:hasDbXref MESH:C537338 semapv:UnspecifiedMatching -orphanet.ordo:3168 Sillence syndrome oboInOwl:hasDbXref MeSH:C537338 semapv:UnspecifiedMatching -orphanet.ordo:3168 Sillence syndrome oboInOwl:hasDbXref OMIM:113450 semapv:UnspecifiedMatching -orphanet.ordo:3168 Sillence syndrome oboInOwl:hasDbXref UMLS:C1862092 semapv:UnspecifiedMatching -orphanet.ordo:3169 Sirenomelia oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:3169 Sirenomelia oboInOwl:hasDbXref MESH:C538595 semapv:UnspecifiedMatching -orphanet.ordo:3169 Sirenomelia oboInOwl:hasDbXref MeSH:C538595 semapv:UnspecifiedMatching -orphanet.ordo:3169 Sirenomelia oboInOwl:hasDbXref MedDRA:10049216 semapv:UnspecifiedMatching -orphanet.ordo:3169 Sirenomelia oboInOwl:hasDbXref OMIM:600145 semapv:UnspecifiedMatching -orphanet.ordo:3169 Sirenomelia oboInOwl:hasDbXref UMLS:C0037205 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref MedDRA:10049048 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617524 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617525 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617526 semapv:UnspecifiedMatching -orphanet.ordo:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C0265961 semapv:UnspecifiedMatching -orphanet.ordo:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref OMIM:602066 semapv:UnspecifiedMatching -orphanet.ordo:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref UMLS:C1865926 semapv:UnspecifiedMatching -orphanet.ordo:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref OMIM:227210 semapv:UnspecifiedMatching -orphanet.ordo:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref UMLS:C1856896 semapv:UnspecifiedMatching -orphanet.ordo:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MESH:D000542 semapv:UnspecifiedMatching -orphanet.ordo:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MeSH:D000542 semapv:UnspecifiedMatching -orphanet.ordo:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MedDRA:10001890 semapv:UnspecifiedMatching -orphanet.ordo:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref UMLS:C0002390 semapv:UnspecifiedMatching -orphanet.ordo:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:317419 T-B- severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref OMIM:615966 semapv:UnspecifiedMatching -orphanet.ordo:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching -orphanet.ordo:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching -orphanet.ordo:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref OMIM:616873 semapv:UnspecifiedMatching -orphanet.ordo:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref OMIM:300853 semapv:UnspecifiedMatching -orphanet.ordo:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching -orphanet.ordo:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching -orphanet.ordo:3176 Spina bifida-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching -orphanet.ordo:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref MESH:C535472 semapv:UnspecifiedMatching -orphanet.ordo:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref MeSH:C535472 semapv:UnspecifiedMatching -orphanet.ordo:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:271310 semapv:UnspecifiedMatching -orphanet.ordo:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1849087 semapv:UnspecifiedMatching -orphanet.ordo:318 Acute erythroid leukemia oboInOwl:hasDbXref ICD10:C94.0 semapv:UnspecifiedMatching -orphanet.ordo:318 Acute erythroid leukemia oboInOwl:hasDbXref OMIM:133180 semapv:UnspecifiedMatching -orphanet.ordo:318 Acute erythroid leukemia oboInOwl:hasDbXref UMLS:C0023440 semapv:UnspecifiedMatching -orphanet.ordo:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref MESH:C535779 semapv:UnspecifiedMatching -orphanet.ordo:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref MeSH:C535779 semapv:UnspecifiedMatching -orphanet.ordo:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref OMIM:600000 semapv:UnspecifiedMatching -orphanet.ordo:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C1838781 semapv:UnspecifiedMatching -orphanet.ordo:3181 Sprengel deformity oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:3181 Sprengel deformity oboInOwl:hasDbXref MESH:C535802 semapv:UnspecifiedMatching -orphanet.ordo:3181 Sprengel deformity oboInOwl:hasDbXref MeSH:C535802 semapv:UnspecifiedMatching -orphanet.ordo:3181 Sprengel deformity oboInOwl:hasDbXref MedDRA:10010455 semapv:UnspecifiedMatching -orphanet.ordo:3181 Sprengel deformity oboInOwl:hasDbXref OMIM:184400 semapv:UnspecifiedMatching -orphanet.ordo:3181 Sprengel deformity oboInOwl:hasDbXref UMLS:C0152438 semapv:UnspecifiedMatching -orphanet.ordo:31824 Colchicine poisoning oboInOwl:hasDbXref ICD10:T50.4 semapv:UnspecifiedMatching -orphanet.ordo:31825 Methanol poisoning oboInOwl:hasDbXref ICD10:T51.1 semapv:UnspecifiedMatching -orphanet.ordo:31826 Ethylene glycol poisoning oboInOwl:hasDbXref ICD10:T52.8 semapv:UnspecifiedMatching -orphanet.ordo:31826 Ethylene glycol poisoning oboInOwl:hasDbXref UMLS:C0413194 semapv:UnspecifiedMatching -orphanet.ordo:31827 Paraquat poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching -orphanet.ordo:31828 Digitalis poisoning oboInOwl:hasDbXref ICD10:T46.0 semapv:UnspecifiedMatching -orphanet.ordo:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching -orphanet.ordo:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 semapv:UnspecifiedMatching -orphanet.ordo:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MeSH:D011668 semapv:UnspecifiedMatching -orphanet.ordo:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MedDRA:10037458 semapv:UnspecifiedMatching -orphanet.ordo:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref OMIM:265450 semapv:UnspecifiedMatching -orphanet.ordo:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS:C0034091 semapv:UnspecifiedMatching -orphanet.ordo:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching -orphanet.ordo:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref MESH:C537487 semapv:UnspecifiedMatching -orphanet.ordo:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref MeSH:C537487 semapv:UnspecifiedMatching -orphanet.ordo:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref OMIM:184510 semapv:UnspecifiedMatching -orphanet.ordo:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref UMLS:C1866650 semapv:UnspecifiedMatching -orphanet.ordo:3185 NON RARE IN EUROPE: Polycystic ovary syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching -orphanet.ordo:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref OMIM:184705 semapv:UnspecifiedMatching -orphanet.ordo:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref UMLS:C1866649 semapv:UnspecifiedMatching -orphanet.ordo:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching -orphanet.ordo:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching -orphanet.ordo:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching -orphanet.ordo:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref MeSH:D011666 semapv:UnspecifiedMatching -orphanet.ordo:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref MedDRA:10037451 semapv:UnspecifiedMatching -orphanet.ordo:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching -orphanet.ordo:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref UMLS:C0162164 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.0 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.1 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.3 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.2 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.3 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref MedDRA:10015560 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching -orphanet.ordo:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0553580 semapv:UnspecifiedMatching -orphanet.ordo:3190 Subpulmonary stenosis oboInOwl:hasDbXref ICD10:Q24.3 semapv:UnspecifiedMatching -orphanet.ordo:3190 Subpulmonary stenosis oboInOwl:hasDbXref UMLS:C3165028 semapv:UnspecifiedMatching -orphanet.ordo:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref OMIM:271960 semapv:UnspecifiedMatching -orphanet.ordo:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref UMLS:C0795947 semapv:UnspecifiedMatching -orphanet.ordo:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref OMIM:614807 semapv:UnspecifiedMatching -orphanet.ordo:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref OMIM:605130 semapv:UnspecifiedMatching -orphanet.ordo:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref UMLS:C1854630 semapv:UnspecifiedMatching -orphanet.ordo:319189 Familial cortical myoclonus oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching -orphanet.ordo:319189 Familial cortical myoclonus oboInOwl:hasDbXref OMIM:614937 semapv:UnspecifiedMatching -orphanet.ordo:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching -orphanet.ordo:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref OMIM:614898 semapv:UnspecifiedMatching -orphanet.ordo:3192 Supravalvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching -orphanet.ordo:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching -orphanet.ordo:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 semapv:UnspecifiedMatching -orphanet.ordo:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MedDRA:10014071 semapv:UnspecifiedMatching -orphanet.ordo:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282687 semapv:UnspecifiedMatching -orphanet.ordo:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.0 semapv:UnspecifiedMatching -orphanet.ordo:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019097 semapv:UnspecifiedMatching -orphanet.ordo:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.1 semapv:UnspecifiedMatching -orphanet.ordo:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref MedDRA:10005932 semapv:UnspecifiedMatching -orphanet.ordo:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282192 semapv:UnspecifiedMatching -orphanet.ordo:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching -orphanet.ordo:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref UMLS:C0042470 semapv:UnspecifiedMatching -orphanet.ordo:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching -orphanet.ordo:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0343633 semapv:UnspecifiedMatching -orphanet.ordo:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching -orphanet.ordo:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:B33.4+ semapv:UnspecifiedMatching -orphanet.ordo:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:J17.1* semapv:UnspecifiedMatching -orphanet.ordo:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref MedDRA:10019143 semapv:UnspecifiedMatching -orphanet.ordo:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS:C0243025 semapv:UnspecifiedMatching -orphanet.ordo:319251 Rift valley fever oboInOwl:hasDbXref ICD10:A92.4 semapv:UnspecifiedMatching -orphanet.ordo:319251 Rift valley fever oboInOwl:hasDbXref MedDRA:10039143 semapv:UnspecifiedMatching -orphanet.ordo:319251 Rift valley fever oboInOwl:hasDbXref UMLS:C0035613 semapv:UnspecifiedMatching -orphanet.ordo:319254 Kyasanur forest disease oboInOwl:hasDbXref ICD10:A98.2 semapv:UnspecifiedMatching -orphanet.ordo:319254 Kyasanur forest disease oboInOwl:hasDbXref MedDRA:10023505 semapv:UnspecifiedMatching -orphanet.ordo:319254 Kyasanur forest disease oboInOwl:hasDbXref UMLS:C0022810 semapv:UnspecifiedMatching -orphanet.ordo:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.1 semapv:UnspecifiedMatching -orphanet.ordo:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref MedDRA:10030310 semapv:UnspecifiedMatching -orphanet.ordo:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019103 semapv:UnspecifiedMatching -orphanet.ordo:319276 Clear cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319276 Clear cell renal carcinoma oboInOwl:hasDbXref UMLS:C0279702 semapv:UnspecifiedMatching -orphanet.ordo:319287 Multilocular cystic renal neoplasm of low malignant potential oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1306837 semapv:UnspecifiedMatching -orphanet.ordo:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref ICD10:Q25.3 semapv:UnspecifiedMatching -orphanet.ordo:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MESH:D021921 semapv:UnspecifiedMatching -orphanet.ordo:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MeSH:D021921 semapv:UnspecifiedMatching -orphanet.ordo:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MedDRA:10042598 semapv:UnspecifiedMatching -orphanet.ordo:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref OMIM:185500 semapv:UnspecifiedMatching -orphanet.ordo:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0003499 semapv:UnspecifiedMatching -orphanet.ordo:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS:C1266042 semapv:UnspecifiedMatching -orphanet.ordo:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 semapv:UnspecifiedMatching -orphanet.ordo:319319 Renal medullary carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319319 Renal medullary carcinoma oboInOwl:hasDbXref MedDRA:10064886 semapv:UnspecifiedMatching -orphanet.ordo:319322 Mucinous tubular and spindle cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching -orphanet.ordo:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:618484 semapv:UnspecifiedMatching -orphanet.ordo:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:608837 semapv:UnspecifiedMatching -orphanet.ordo:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C1837245 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref MESH:C536444 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref MESH:C537488 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref MeSH:C536444 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref MeSH:C537488 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref OMIM:122440 semapv:UnspecifiedMatching -orphanet.ordo:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref UMLS:C1852542 semapv:UnspecifiedMatching -orphanet.ordo:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref OMIM:605724 semapv:UnspecifiedMatching -orphanet.ordo:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188470 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:603386 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:603744 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:606240 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:616534 semapv:UnspecifiedMatching -orphanet.ordo:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:616535 semapv:UnspecifiedMatching -orphanet.ordo:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref OMIM:614096 semapv:UnspecifiedMatching -orphanet.ordo:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref OMIM:614582 semapv:UnspecifiedMatching -orphanet.ordo:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref OMIM:614932 semapv:UnspecifiedMatching -orphanet.ordo:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref OMIM:614946 semapv:UnspecifiedMatching -orphanet.ordo:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref OMIM:614947 semapv:UnspecifiedMatching -orphanet.ordo:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref OMIM:614889 semapv:UnspecifiedMatching -orphanet.ordo:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref OMIM:614891 semapv:UnspecifiedMatching -orphanet.ordo:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref OMIM:614890 semapv:UnspecifiedMatching -orphanet.ordo:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref OMIM:616126 semapv:UnspecifiedMatching -orphanet.ordo:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching -orphanet.ordo:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref OMIM:614889 semapv:UnspecifiedMatching -orphanet.ordo:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:615978 semapv:UnspecifiedMatching -orphanet.ordo:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref OMIM:614892 semapv:UnspecifiedMatching -orphanet.ordo:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C2931508 semapv:UnspecifiedMatching -orphanet.ordo:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref OMIM:614893 semapv:UnspecifiedMatching -orphanet.ordo:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching -orphanet.ordo:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching -orphanet.ordo:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching -orphanet.ordo:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching -orphanet.ordo:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching -orphanet.ordo:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref OMIM:617920 semapv:UnspecifiedMatching -orphanet.ordo:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref OMIM:608051 semapv:UnspecifiedMatching -orphanet.ordo:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref UMLS:C0339512 semapv:UnspecifiedMatching -orphanet.ordo:319646 PGM1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:319646 PGM1-CDG oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching -orphanet.ordo:319646 PGM1-CDG oboInOwl:hasDbXref UMLS:C2752015 semapv:UnspecifiedMatching -orphanet.ordo:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching -orphanet.ordo:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref OMIM:613839 semapv:UnspecifiedMatching -orphanet.ordo:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref UMLS:C3151205 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F74 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F75 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F76 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F77 semapv:UnspecifiedMatching -orphanet.ordo:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F78 semapv:UnspecifiedMatching -orphanet.ordo:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:319671 Alazami syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:319671 Alazami syndrome oboInOwl:hasDbXref OMIM:615071 semapv:UnspecifiedMatching -orphanet.ordo:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref OMIM:614851 semapv:UnspecifiedMatching -orphanet.ordo:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:614654 semapv:UnspecifiedMatching -orphanet.ordo:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:616733 semapv:UnspecifiedMatching -orphanet.ordo:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood oboInOwl:hasDbXref ICD10:E73.8 semapv:UnspecifiedMatching -orphanet.ordo:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:319691 NON RARE IN EUROPE: Partial color blindness, protan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -orphanet.ordo:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -orphanet.ordo:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:149400 semapv:UnspecifiedMatching -orphanet.ordo:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614618 semapv:UnspecifiedMatching -orphanet.ordo:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614619 semapv:UnspecifiedMatching -orphanet.ordo:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:618011 semapv:UnspecifiedMatching -orphanet.ordo:3197 Hereditary hyperekplexia oboInOwl:hasDbXref UMLS:C1835614 semapv:UnspecifiedMatching -orphanet.ordo:319705 NON RARE IN EUROPE: Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:3198 Stiff person spectrum disorder oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:3198 Stiff person spectrum disorder oboInOwl:hasDbXref MedDRA:10042044 semapv:UnspecifiedMatching -orphanet.ordo:3198 Stiff person spectrum disorder oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching -orphanet.ordo:3198 Stiff person spectrum disorder oboInOwl:hasDbXref UMLS:C0085292 semapv:UnspecifiedMatching -orphanet.ordo:3199 Stimmler syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3199 Stimmler syndrome oboInOwl:hasDbXref OMIM:202900 semapv:UnspecifiedMatching -orphanet.ordo:32 Glutathione synthetase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching -orphanet.ordo:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MESH:C536835 semapv:UnspecifiedMatching -orphanet.ordo:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MeSH:C536835 semapv:UnspecifiedMatching -orphanet.ordo:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching -orphanet.ordo:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching -orphanet.ordo:32 Glutathione synthetase deficiency oboInOwl:hasDbXref UMLS:C0398746 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref ICD10:E26.1 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MESH:C537422 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MeSH:C537422 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MeSH:D043204 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching -orphanet.ordo:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref UMLS:C0342488 semapv:UnspecifiedMatching -orphanet.ordo:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:601701 semapv:UnspecifiedMatching -orphanet.ordo:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1866427 semapv:UnspecifiedMatching -orphanet.ordo:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome oboInOwl:hasDbXref OMIM:192445 semapv:UnspecifiedMatching -orphanet.ordo:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:194380 semapv:UnspecifiedMatching -orphanet.ordo:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:616689 semapv:UnspecifiedMatching -orphanet.ordo:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C0272051 semapv:UnspecifiedMatching -orphanet.ordo:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 semapv:UnspecifiedMatching -orphanet.ordo:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref OMIM:613364 semapv:UnspecifiedMatching -orphanet.ordo:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref OMIM:613096 semapv:UnspecifiedMatching -orphanet.ordo:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref UMLS:C2936879 semapv:UnspecifiedMatching -orphanet.ordo:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref OMIM:615043 semapv:UnspecifiedMatching -orphanet.ordo:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref OMIM:615035 semapv:UnspecifiedMatching -orphanet.ordo:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref OMIM:615033 semapv:UnspecifiedMatching -orphanet.ordo:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref OMIM:615031 semapv:UnspecifiedMatching -orphanet.ordo:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref OMIM:614409 semapv:UnspecifiedMatching -orphanet.ordo:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref OMIM:613162 semapv:UnspecifiedMatching -orphanet.ordo:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref OMIM:185070 semapv:UnspecifiedMatching -orphanet.ordo:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref UMLS:C1861451 semapv:UnspecifiedMatching -orphanet.ordo:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref OMIM:613206 semapv:UnspecifiedMatching -orphanet.ordo:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref UMLS:C2750784 semapv:UnspecifiedMatching -orphanet.ordo:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref OMIM:609541 semapv:UnspecifiedMatching -orphanet.ordo:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1836010 semapv:UnspecifiedMatching -orphanet.ordo:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref OMIM:615030 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MeSH:D013341 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MedDRA:10042265 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MedDRA:10057653 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching -orphanet.ordo:3205 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching -orphanet.ordo:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref MESH:C537502 semapv:UnspecifiedMatching -orphanet.ordo:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref MeSH:C537502 semapv:UnspecifiedMatching -orphanet.ordo:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref OMIM:601559 semapv:UnspecifiedMatching -orphanet.ordo:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref OMIM:619751 semapv:UnspecifiedMatching -orphanet.ordo:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0796176 semapv:UnspecifiedMatching -orphanet.ordo:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931292 semapv:UnspecifiedMatching -orphanet.ordo:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching -orphanet.ordo:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619166 semapv:UnspecifiedMatching -orphanet.ordo:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619167 semapv:UnspecifiedMatching -orphanet.ordo:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619224 semapv:UnspecifiedMatching -orphanet.ordo:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref UMLS:C1855008 semapv:UnspecifiedMatching -orphanet.ordo:321 Multiple osteochondromas oboInOwl:hasDbXref ICD10:Q78.6 semapv:UnspecifiedMatching -orphanet.ordo:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133700 semapv:UnspecifiedMatching -orphanet.ordo:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching -orphanet.ordo:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching -orphanet.ordo:321 Multiple osteochondromas oboInOwl:hasDbXref UMLS:C0206641 semapv:UnspecifiedMatching -orphanet.ordo:3210 Summitt syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:3210 Summitt syndrome oboInOwl:hasDbXref MESH:C538142 semapv:UnspecifiedMatching -orphanet.ordo:3210 Summitt syndrome oboInOwl:hasDbXref MeSH:C538142 semapv:UnspecifiedMatching -orphanet.ordo:3210 Summitt syndrome oboInOwl:hasDbXref OMIM:272350 semapv:UnspecifiedMatching -orphanet.ordo:3210 Summitt syndrome oboInOwl:hasDbXref UMLS:C1802405 semapv:UnspecifiedMatching -orphanet.ordo:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching -orphanet.ordo:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref UMLS:C2931440 semapv:UnspecifiedMatching -orphanet.ordo:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching -orphanet.ordo:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome oboInOwl:hasDbXref UMLS:C1839564 semapv:UnspecifiedMatching -orphanet.ordo:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref MESH:C536771 semapv:UnspecifiedMatching -orphanet.ordo:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref MeSH:C536771 semapv:UnspecifiedMatching -orphanet.ordo:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref OMIM:601706 semapv:UnspecifiedMatching -orphanet.ordo:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref UMLS:C1866425 semapv:UnspecifiedMatching -orphanet.ordo:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref ICD10:Q17.8 semapv:UnspecifiedMatching -orphanet.ordo:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref OMIM:221300 semapv:UnspecifiedMatching -orphanet.ordo:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref UMLS:C2931454 semapv:UnspecifiedMatching -orphanet.ordo:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref OMIM:221400 semapv:UnspecifiedMatching -orphanet.ordo:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1857338 semapv:UnspecifiedMatching -orphanet.ordo:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref OMIM:601351 semapv:UnspecifiedMatching -orphanet.ordo:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref UMLS:C1832438 semapv:UnspecifiedMatching -orphanet.ordo:3219 Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3219 Fountain syndrome oboInOwl:hasDbXref MESH:C537270 semapv:UnspecifiedMatching -orphanet.ordo:3219 Fountain syndrome oboInOwl:hasDbXref MeSH:C537270 semapv:UnspecifiedMatching -orphanet.ordo:3219 Fountain syndrome oboInOwl:hasDbXref OMIM:229120 semapv:UnspecifiedMatching -orphanet.ordo:3219 Fountain syndrome oboInOwl:hasDbXref UMLS:C0795944 semapv:UnspecifiedMatching -orphanet.ordo:322 Exstrophy-epispadias complex oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching -orphanet.ordo:322 Exstrophy-epispadias complex oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching -orphanet.ordo:322 Exstrophy-epispadias complex oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching -orphanet.ordo:322 Exstrophy-epispadias complex oboInOwl:hasDbXref UMLS:C1838703 semapv:UnspecifiedMatching -orphanet.ordo:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref MESH:C535994 semapv:UnspecifiedMatching -orphanet.ordo:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref MeSH:C535994 semapv:UnspecifiedMatching -orphanet.ordo:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref OMIM:234580 semapv:UnspecifiedMatching -orphanet.ordo:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref OMIM:616617 semapv:UnspecifiedMatching -orphanet.ordo:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref UMLS:C1856186 semapv:UnspecifiedMatching -orphanet.ordo:3221 Generalized resistance to thyroid hormone oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching -orphanet.ordo:3221 Generalized resistance to thyroid hormone oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching -orphanet.ordo:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching -orphanet.ordo:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C1970827 semapv:UnspecifiedMatching -orphanet.ordo:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref UMLS:C2931654 semapv:UnspecifiedMatching -orphanet.ordo:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref UMLS:C2931369 semapv:UnspecifiedMatching -orphanet.ordo:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref OMIM:614038 semapv:UnspecifiedMatching -orphanet.ordo:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref MESH:C538049 semapv:UnspecifiedMatching -orphanet.ordo:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref MeSH:C538049 semapv:UnspecifiedMatching -orphanet.ordo:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref OMIM:221740 semapv:UnspecifiedMatching -orphanet.ordo:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref UMLS:C1857333 semapv:UnspecifiedMatching -orphanet.ordo:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching -orphanet.ordo:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching -orphanet.ordo:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref OMIM:124490 semapv:UnspecifiedMatching -orphanet.ordo:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref ICD10:H83.8 semapv:UnspecifiedMatching -orphanet.ordo:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref OMIM:120040 semapv:UnspecifiedMatching -orphanet.ordo:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref ICD10:H74.3 semapv:UnspecifiedMatching -orphanet.ordo:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref OMIM:601449 semapv:UnspecifiedMatching -orphanet.ordo:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref UMLS:C1832354 semapv:UnspecifiedMatching -orphanet.ordo:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C535993 semapv:UnspecifiedMatching -orphanet.ordo:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref MeSH:C535993 semapv:UnspecifiedMatching -orphanet.ordo:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:221320 semapv:UnspecifiedMatching -orphanet.ordo:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1857340 semapv:UnspecifiedMatching -orphanet.ordo:3237 Multiple synostoses syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:3237 Multiple synostoses syndrome oboInOwl:hasDbXref OMIM:186500 semapv:UnspecifiedMatching -orphanet.ordo:3237 Multiple synostoses syndrome oboInOwl:hasDbXref OMIM:610017 semapv:UnspecifiedMatching -orphanet.ordo:3237 Multiple synostoses syndrome oboInOwl:hasDbXref OMIM:612961 semapv:UnspecifiedMatching -orphanet.ordo:3237 Multiple synostoses syndrome oboInOwl:hasDbXref UMLS:C0175700 semapv:UnspecifiedMatching -orphanet.ordo:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref OMIM:157800 semapv:UnspecifiedMatching -orphanet.ordo:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref UMLS:C2931461 semapv:UnspecifiedMatching -orphanet.ordo:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref OMIM:221350 semapv:UnspecifiedMatching -orphanet.ordo:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref UMLS:C1857339 semapv:UnspecifiedMatching -orphanet.ordo:324 Fabry disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:324 Fabry disease oboInOwl:hasDbXref MESH:D000795 semapv:UnspecifiedMatching -orphanet.ordo:324 Fabry disease oboInOwl:hasDbXref MeSH:D000795 semapv:UnspecifiedMatching -orphanet.ordo:324 Fabry disease oboInOwl:hasDbXref MedDRA:10016016 semapv:UnspecifiedMatching -orphanet.ordo:324 Fabry disease oboInOwl:hasDbXref OMIM:301500 semapv:UnspecifiedMatching -orphanet.ordo:324 Fabry disease oboInOwl:hasDbXref UMLS:C0002986 semapv:UnspecifiedMatching -orphanet.ordo:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref OMIM:125230 semapv:UnspecifiedMatching -orphanet.ordo:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref UMLS:C1852278 semapv:UnspecifiedMatching -orphanet.ordo:3242 Renpenning syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:3242 Renpenning syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching -orphanet.ordo:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching -orphanet.ordo:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:324290 Early-onset Lafora body disease oboInOwl:hasDbXref OMIM:616640 semapv:UnspecifiedMatching -orphanet.ordo:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618307 semapv:UnspecifiedMatching -orphanet.ordo:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:3243 Sweet syndrome oboInOwl:hasDbXref ICD10:L98.2 semapv:UnspecifiedMatching -orphanet.ordo:3243 Sweet syndrome oboInOwl:hasDbXref MESH:D016463 semapv:UnspecifiedMatching -orphanet.ordo:3243 Sweet syndrome oboInOwl:hasDbXref MeSH:D016463 semapv:UnspecifiedMatching -orphanet.ordo:3243 Sweet syndrome oboInOwl:hasDbXref MedDRA:10000748 semapv:UnspecifiedMatching -orphanet.ordo:3243 Sweet syndrome oboInOwl:hasDbXref OMIM:608068 semapv:UnspecifiedMatching -orphanet.ordo:3243 Sweet syndrome oboInOwl:hasDbXref UMLS:C0085077 semapv:UnspecifiedMatching -orphanet.ordo:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q68.4 semapv:UnspecifiedMatching -orphanet.ordo:324313 9p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching -orphanet.ordo:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref OMIM:614896 semapv:UnspecifiedMatching -orphanet.ordo:324353 Congenital achiasma oboInOwl:hasDbXref ICD10:H47.4 semapv:UnspecifiedMatching -orphanet.ordo:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref OMIM:300886 semapv:UnspecifiedMatching -orphanet.ordo:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:324422 ALG13-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:324422 ALG13-CDG oboInOwl:hasDbXref OMIM:300884 semapv:UnspecifiedMatching -orphanet.ordo:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref OMIM:137200 semapv:UnspecifiedMatching -orphanet.ordo:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref OMIM:614878 semapv:UnspecifiedMatching -orphanet.ordo:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref OMIM:614922 semapv:UnspecifiedMatching -orphanet.ordo:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:615522 semapv:UnspecifiedMatching -orphanet.ordo:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref OMIM:614961 semapv:UnspecifiedMatching -orphanet.ordo:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref ICD10:G51.4 semapv:UnspecifiedMatching -orphanet.ordo:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref OMIM:606703 semapv:UnspecifiedMatching -orphanet.ordo:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref UMLS:C1847627 semapv:UnspecifiedMatching -orphanet.ordo:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref OMIM:185750 semapv:UnspecifiedMatching -orphanet.ordo:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref UMLS:C1861391 semapv:UnspecifiedMatching -orphanet.ordo:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching -orphanet.ordo:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref OMIM:303400 semapv:UnspecifiedMatching -orphanet.ordo:324604 Classic multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:324604 Classic multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching -orphanet.ordo:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:324625 Chikungunya oboInOwl:hasDbXref ICD10:A92.0 semapv:UnspecifiedMatching -orphanet.ordo:324625 Chikungunya oboInOwl:hasDbXref UMLS:C0008055 semapv:UnspecifiedMatching -orphanet.ordo:324632 Hendra virus infection oboInOwl:hasDbXref ICD10:B33.8 semapv:UnspecifiedMatching -orphanet.ordo:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref ICD10:D69.2 semapv:UnspecifiedMatching -orphanet.ordo:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref UMLS:C0301928 semapv:UnspecifiedMatching -orphanet.ordo:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.8 semapv:UnspecifiedMatching -orphanet.ordo:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:324737 SRD5A3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:324737 SRD5A3-CDG oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching -orphanet.ordo:324737 SRD5A3-CDG oboInOwl:hasDbXref UMLS:C3150191 semapv:UnspecifiedMatching -orphanet.ordo:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref UMLS:C0265255 semapv:UnspecifiedMatching -orphanet.ordo:3248 Distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching -orphanet.ordo:3248 Distal symphalangism oboInOwl:hasDbXref OMIM:185700 semapv:UnspecifiedMatching -orphanet.ordo:3248 Distal symphalangism oboInOwl:hasDbXref UMLS:C1861401 semapv:UnspecifiedMatching -orphanet.ordo:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMatching -orphanet.ordo:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref OMIM:259680 semapv:UnspecifiedMatching -orphanet.ordo:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref UMLS:C0410422 semapv:UnspecifiedMatching -orphanet.ordo:324972 MAGIC syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:256040 semapv:UnspecifiedMatching -orphanet.ordo:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:617591 semapv:UnspecifiedMatching -orphanet.ordo:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:618048 semapv:UnspecifiedMatching -orphanet.ordo:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619175 semapv:UnspecifiedMatching -orphanet.ordo:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619183 semapv:UnspecifiedMatching -orphanet.ordo:324999 JMP syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:325 Congenital factor II deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:325 Congenital factor II deficiency oboInOwl:hasDbXref OMIM:613679 semapv:UnspecifiedMatching -orphanet.ordo:325 Congenital factor II deficiency oboInOwl:hasDbXref UMLS:C0272317 semapv:UnspecifiedMatching -orphanet.ordo:3250 Proximal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching -orphanet.ordo:3250 Proximal symphalangism oboInOwl:hasDbXref MESH:C536223 semapv:UnspecifiedMatching -orphanet.ordo:3250 Proximal symphalangism oboInOwl:hasDbXref MeSH:C536223 semapv:UnspecifiedMatching -orphanet.ordo:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:185800 semapv:UnspecifiedMatching -orphanet.ordo:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:615298 semapv:UnspecifiedMatching -orphanet.ordo:3250 Proximal symphalangism oboInOwl:hasDbXref UMLS:C1861385 semapv:UnspecifiedMatching -orphanet.ordo:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:325004 CANDLE syndrome oboInOwl:hasDbXref UMLS:C1850568 semapv:UnspecifiedMatching -orphanet.ordo:325124 Testicular agenesis oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching -orphanet.ordo:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:C536726 semapv:UnspecifiedMatching -orphanet.ordo:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref MeSH:C536726 semapv:UnspecifiedMatching -orphanet.ordo:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching -orphanet.ordo:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C2931488 semapv:UnspecifiedMatching -orphanet.ordo:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching -orphanet.ordo:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref OMIM:228300 semapv:UnspecifiedMatching -orphanet.ordo:3255 Filippi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3255 Filippi syndrome oboInOwl:hasDbXref MESH:C538152 semapv:UnspecifiedMatching -orphanet.ordo:3255 Filippi syndrome oboInOwl:hasDbXref MeSH:C538152 semapv:UnspecifiedMatching -orphanet.ordo:3255 Filippi syndrome oboInOwl:hasDbXref OMIM:272440 semapv:UnspecifiedMatching -orphanet.ordo:3255 Filippi syndrome oboInOwl:hasDbXref UMLS:C0795940 semapv:UnspecifiedMatching -orphanet.ordo:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:325546 Sex chromosome difference of sex development oboInOwl:hasDbXref UMLS:C2936421 semapv:UnspecifiedMatching -orphanet.ordo:325697 Genetic 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C2936403 semapv:UnspecifiedMatching -orphanet.ordo:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref OMIM:212780 semapv:UnspecifiedMatching -orphanet.ordo:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref UMLS:C1859309 semapv:UnspecifiedMatching -orphanet.ordo:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref OMIM:186350 semapv:UnspecifiedMatching -orphanet.ordo:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref UMLS:C1861347 semapv:UnspecifiedMatching -orphanet.ordo:326 Congenital factor V deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:326 Congenital factor V deficiency oboInOwl:hasDbXref MedDRA:10048930 semapv:UnspecifiedMatching -orphanet.ordo:326 Congenital factor V deficiency oboInOwl:hasDbXref OMIM:227400 semapv:UnspecifiedMatching -orphanet.ordo:326 Congenital factor V deficiency oboInOwl:hasDbXref UMLS:C0015499 semapv:UnspecifiedMatching -orphanet.ordo:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching -orphanet.ordo:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref OMIM:607685 semapv:UnspecifiedMatching -orphanet.ordo:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C0206141 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D056735 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MeSH:D056735 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MedDRA:10069521 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:603909 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:615559 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:618534 semapv:UnspecifiedMatching -orphanet.ordo:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C1328840 semapv:UnspecifiedMatching -orphanet.ordo:3262 Dobrow syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3262 Dobrow syndrome oboInOwl:hasDbXref UMLS:C5190737 semapv:UnspecifiedMatching -orphanet.ordo:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching -orphanet.ordo:3265 Humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:3265 Humero-radial synostosis oboInOwl:hasDbXref OMIM:143050 semapv:UnspecifiedMatching -orphanet.ordo:3265 Humero-radial synostosis oboInOwl:hasDbXref OMIM:236400 semapv:UnspecifiedMatching -orphanet.ordo:3265 Humero-radial synostosis oboInOwl:hasDbXref UMLS:C0431800 semapv:UnspecifiedMatching -orphanet.ordo:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref OMIM:603438 semapv:UnspecifiedMatching -orphanet.ordo:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref UMLS:C1863881 semapv:UnspecifiedMatching -orphanet.ordo:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching -orphanet.ordo:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:327 Congenital factor VII deficiency oboInOwl:hasDbXref MedDRA:10016079 semapv:UnspecifiedMatching -orphanet.ordo:327 Congenital factor VII deficiency oboInOwl:hasDbXref OMIM:227500 semapv:UnspecifiedMatching -orphanet.ordo:327 Congenital factor VII deficiency oboInOwl:hasDbXref UMLS:C0015503 semapv:UnspecifiedMatching -orphanet.ordo:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref OMIM:266255 semapv:UnspecifiedMatching -orphanet.ordo:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref UMLS:C2931776 semapv:UnspecifiedMatching -orphanet.ordo:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref MESH:C536270 semapv:UnspecifiedMatching -orphanet.ordo:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref MeSH:C536270 semapv:UnspecifiedMatching -orphanet.ordo:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref UMLS:C2931149 semapv:UnspecifiedMatching -orphanet.ordo:3273 Synovial sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:3273 Synovial sarcoma oboInOwl:hasDbXref MedDRA:10042863 semapv:UnspecifiedMatching -orphanet.ordo:3273 Synovial sarcoma oboInOwl:hasDbXref OMIM:300813 semapv:UnspecifiedMatching -orphanet.ordo:3273 Synovial sarcoma oboInOwl:hasDbXref UMLS:C0039101 semapv:UnspecifiedMatching -orphanet.ordo:3274 Granulomatous arthritis of childhood oboInOwl:hasDbXref UMLS:C1861303 semapv:UnspecifiedMatching -orphanet.ordo:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching -orphanet.ordo:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref OMIM:272460 semapv:UnspecifiedMatching -orphanet.ordo:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref UMLS:C1848934 semapv:UnspecifiedMatching -orphanet.ordo:328 Congenital factor X deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:328 Congenital factor X deficiency oboInOwl:hasDbXref OMIM:227600 semapv:UnspecifiedMatching -orphanet.ordo:328 Congenital factor X deficiency oboInOwl:hasDbXref UMLS:C0015519 semapv:UnspecifiedMatching -orphanet.ordo:3280 Syringomyelia oboInOwl:hasDbXref MESH:D013595 semapv:UnspecifiedMatching -orphanet.ordo:3280 Syringomyelia oboInOwl:hasDbXref MeSH:D013595 semapv:UnspecifiedMatching -orphanet.ordo:3280 Syringomyelia oboInOwl:hasDbXref MedDRA:10042928 semapv:UnspecifiedMatching -orphanet.ordo:3280 Syringomyelia oboInOwl:hasDbXref OMIM:186700 semapv:UnspecifiedMatching -orphanet.ordo:3280 Syringomyelia oboInOwl:hasDbXref UMLS:C0039144 semapv:UnspecifiedMatching -orphanet.ordo:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching -orphanet.ordo:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref UMLS:C0221158 semapv:UnspecifiedMatching -orphanet.ordo:3283 His bundle tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching -orphanet.ordo:3283 His bundle tachycardia oboInOwl:hasDbXref UMLS:C0039235 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:604772 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:611938 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614021 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614916 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:615441 semapv:UnspecifiedMatching -orphanet.ordo:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref UMLS:C1631597 semapv:UnspecifiedMatching -orphanet.ordo:3287 Takayasu arteritis oboInOwl:hasDbXref ICD10:M31.4 semapv:UnspecifiedMatching -orphanet.ordo:3287 Takayasu arteritis oboInOwl:hasDbXref MESH:D013625 semapv:UnspecifiedMatching -orphanet.ordo:3287 Takayasu arteritis oboInOwl:hasDbXref MeSH:D013625 semapv:UnspecifiedMatching -orphanet.ordo:3287 Takayasu arteritis oboInOwl:hasDbXref MedDRA:10043097 semapv:UnspecifiedMatching -orphanet.ordo:3287 Takayasu arteritis oboInOwl:hasDbXref OMIM:207600 semapv:UnspecifiedMatching -orphanet.ordo:3287 Takayasu arteritis oboInOwl:hasDbXref UMLS:C0039263 semapv:UnspecifiedMatching -orphanet.ordo:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching -orphanet.ordo:329 Congenital factor XI deficiency oboInOwl:hasDbXref ICD10:D68.1 semapv:UnspecifiedMatching -orphanet.ordo:329 Congenital factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching -orphanet.ordo:329 Congenital factor XI deficiency oboInOwl:hasDbXref UMLS:C0015523 semapv:UnspecifiedMatching -orphanet.ordo:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref MESH:C536950 semapv:UnspecifiedMatching -orphanet.ordo:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref MeSH:C536950 semapv:UnspecifiedMatching -orphanet.ordo:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref OMIM:272950 semapv:UnspecifiedMatching -orphanet.ordo:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref UMLS:C1848912 semapv:UnspecifiedMatching -orphanet.ordo:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref OMIM:615895 semapv:UnspecifiedMatching -orphanet.ordo:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref OMIM:615042 semapv:UnspecifiedMatching -orphanet.ordo:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref OMIM:615923 semapv:UnspecifiedMatching -orphanet.ordo:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref OMIM:615516 semapv:UnspecifiedMatching -orphanet.ordo:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref MESH:C536953 semapv:UnspecifiedMatching -orphanet.ordo:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref MeSH:C536953 semapv:UnspecifiedMatching -orphanet.ordo:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref OMIM:211960 semapv:UnspecifiedMatching -orphanet.ordo:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref UMLS:C1859356 semapv:UnspecifiedMatching -orphanet.ordo:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.2 semapv:UnspecifiedMatching -orphanet.ordo:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 semapv:UnspecifiedMatching -orphanet.ordo:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 semapv:UnspecifiedMatching -orphanet.ordo:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:615009 semapv:UnspecifiedMatching -orphanet.ordo:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref OMIM:615095 semapv:UnspecifiedMatching -orphanet.ordo:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref OMIM:300888 semapv:UnspecifiedMatching -orphanet.ordo:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref OMIM:615863 semapv:UnspecifiedMatching -orphanet.ordo:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref OMIM:618183 semapv:UnspecifiedMatching -orphanet.ordo:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching -orphanet.ordo:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref OMIM:615025 semapv:UnspecifiedMatching -orphanet.ordo:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:300894 semapv:UnspecifiedMatching -orphanet.ordo:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching -orphanet.ordo:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C3668943 semapv:UnspecifiedMatching -orphanet.ordo:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref OMIM:617070 semapv:UnspecifiedMatching -orphanet.ordo:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref UMLS:C1853215 semapv:UnspecifiedMatching -orphanet.ordo:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref OMIM:614407 semapv:UnspecifiedMatching -orphanet.ordo:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref OMIM:616479 semapv:UnspecifiedMatching -orphanet.ordo:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref OMIM:187390 semapv:UnspecifiedMatching -orphanet.ordo:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref UMLS:C2931376 semapv:UnspecifiedMatching -orphanet.ordo:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching -orphanet.ordo:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref OMIM:615073 semapv:UnspecifiedMatching -orphanet.ordo:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -orphanet.ordo:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching -orphanet.ordo:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref OMIM:611771 semapv:UnspecifiedMatching -orphanet.ordo:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref UMLS:C2673196 semapv:UnspecifiedMatching -orphanet.ordo:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref OMIM:142680 semapv:UnspecifiedMatching -orphanet.ordo:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref UMLS:C1275126 semapv:UnspecifiedMatching -orphanet.ordo:329802 5p13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:329802 5p13 microduplication syndrome oboInOwl:hasDbXref OMIM:613174 semapv:UnspecifiedMatching -orphanet.ordo:329802 5p13 microduplication syndrome oboInOwl:hasDbXref UMLS:C2750805 semapv:UnspecifiedMatching -orphanet.ordo:329813 Mosaic genome-wide paternal uniparental disomy oboInOwl:hasDbXref ICD10:Q95.8 semapv:UnspecifiedMatching -orphanet.ordo:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref ICD10:I40.1 semapv:UnspecifiedMatching -orphanet.ordo:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching -orphanet.ordo:329894 Juvenile overlap myositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref ICD10:A33 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref ICD10:A34 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref ICD10:A35 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref MESH:D013742 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref MeSH:D013742 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref MedDRA:10043376 semapv:UnspecifiedMatching -orphanet.ordo:3299 Tetanus oboInOwl:hasDbXref UMLS:C0039614 semapv:UnspecifiedMatching -orphanet.ordo:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching -orphanet.ordo:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching -orphanet.ordo:329918 C3 glomerulopathy oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching -orphanet.ordo:329918 C3 glomerulopathy oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching -orphanet.ordo:329918 C3 glomerulopathy oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching -orphanet.ordo:329931 C3 glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching -orphanet.ordo:329931 C3 glomerulonephritis oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching -orphanet.ordo:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref ICD10:M12.4 semapv:UnspecifiedMatching -orphanet.ordo:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref OMIM:174900 semapv:UnspecifiedMatching -orphanet.ordo:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching -orphanet.ordo:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching -orphanet.ordo:329984 Goblet cell carcinoma oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching -orphanet.ordo:329984 Goblet cell carcinoma oboInOwl:hasDbXref UMLS:C0205695 semapv:UnspecifiedMatching -orphanet.ordo:33 Isovaleric acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:33 Isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 semapv:UnspecifiedMatching -orphanet.ordo:33 Isovaleric acidemia oboInOwl:hasDbXref MeSH:C538167 semapv:UnspecifiedMatching -orphanet.ordo:33 Isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 semapv:UnspecifiedMatching -orphanet.ordo:33 Isovaleric acidemia oboInOwl:hasDbXref UMLS:C0268575 semapv:UnspecifiedMatching -orphanet.ordo:330 Congenital factor XII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:330 Congenital factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching -orphanet.ordo:330 Congenital factor XII deficiency oboInOwl:hasDbXref UMLS:C0015526 semapv:UnspecifiedMatching -orphanet.ordo:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching -orphanet.ordo:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref MESH:C537710 semapv:UnspecifiedMatching -orphanet.ordo:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref MeSH:C537710 semapv:UnspecifiedMatching -orphanet.ordo:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref OMIM:153400 semapv:UnspecifiedMatching -orphanet.ordo:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS:C0265345 semapv:UnspecifiedMatching -orphanet.ordo:330012 High altitude pulmonary edema oboInOwl:hasDbXref ICD10:J81 semapv:UnspecifiedMatching -orphanet.ordo:330012 High altitude pulmonary edema oboInOwl:hasDbXref UMLS:C0340100 semapv:UnspecifiedMatching -orphanet.ordo:330015 Lead poisoning oboInOwl:hasDbXref ICD10:T56.0 semapv:UnspecifiedMatching -orphanet.ordo:330015 Lead poisoning oboInOwl:hasDbXref UMLS:C0023176 semapv:UnspecifiedMatching -orphanet.ordo:330021 Mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching -orphanet.ordo:330021 Mercury poisoning oboInOwl:hasDbXref UMLS:C0025427 semapv:UnspecifiedMatching -orphanet.ordo:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -orphanet.ordo:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.8 semapv:UnspecifiedMatching -orphanet.ordo:330041 Hemoglobin M disease oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching -orphanet.ordo:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617971 semapv:UnspecifiedMatching -orphanet.ordo:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617973 semapv:UnspecifiedMatching -orphanet.ordo:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:614388 semapv:UnspecifiedMatching -orphanet.ordo:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref OMIM:613076 semapv:UnspecifiedMatching -orphanet.ordo:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref UMLS:C2751320 semapv:UnspecifiedMatching -orphanet.ordo:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching -orphanet.ordo:330058 Hydroa vacciniforme oboInOwl:hasDbXref UMLS:C0020241 semapv:UnspecifiedMatching -orphanet.ordo:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching -orphanet.ordo:330061 Actinic prurigo oboInOwl:hasDbXref OMIM:174770 semapv:UnspecifiedMatching -orphanet.ordo:330061 Actinic prurigo oboInOwl:hasDbXref UMLS:C0406217 semapv:UnspecifiedMatching -orphanet.ordo:330064 Chronic actinic dermatitis oboInOwl:hasDbXref ICD10:L57.1 semapv:UnspecifiedMatching -orphanet.ordo:330064 Chronic actinic dermatitis oboInOwl:hasDbXref UMLS:C0282309 semapv:UnspecifiedMatching -orphanet.ordo:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref MESH:C536500 semapv:UnspecifiedMatching -orphanet.ordo:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref MeSH:C536500 semapv:UnspecifiedMatching -orphanet.ordo:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref OMIM:273395 semapv:UnspecifiedMatching -orphanet.ordo:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref OMIM:618021 semapv:UnspecifiedMatching -orphanet.ordo:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref UMLS:C2931218 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref MESH:D013771 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref MeSH:D013771 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref MedDRA:10016193 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref OMIM:618780 semapv:UnspecifiedMatching -orphanet.ordo:3303 Tetralogy of Fallot oboInOwl:hasDbXref UMLS:C0039685 semapv:UnspecifiedMatching -orphanet.ordo:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref OMIM:601127 semapv:UnspecifiedMatching -orphanet.ordo:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref UMLS:C1832735 semapv:UnspecifiedMatching -orphanet.ordo:3305 Tetraploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching -orphanet.ordo:3305 Tetraploidy oboInOwl:hasDbXref MESH:D057891 semapv:UnspecifiedMatching -orphanet.ordo:3305 Tetraploidy oboInOwl:hasDbXref MeSH:D057891 semapv:UnspecifiedMatching -orphanet.ordo:3305 Tetraploidy oboInOwl:hasDbXref UMLS:C0333694 semapv:UnspecifiedMatching -orphanet.ordo:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref UMLS:C3711376 semapv:UnspecifiedMatching -orphanet.ordo:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref MESH:C537564 semapv:UnspecifiedMatching -orphanet.ordo:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref MeSH:C537564 semapv:UnspecifiedMatching -orphanet.ordo:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref OMIM:156400 semapv:UnspecifiedMatching -orphanet.ordo:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref UMLS:C0265295 semapv:UnspecifiedMatching -orphanet.ordo:33069 Dravet syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:607208 semapv:UnspecifiedMatching -orphanet.ordo:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching -orphanet.ordo:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:615744 semapv:UnspecifiedMatching -orphanet.ordo:33069 Dravet syndrome oboInOwl:hasDbXref UMLS:C0751122 semapv:UnspecifiedMatching -orphanet.ordo:3307 Tetrasomy 18p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:3307 Tetrasomy 18p oboInOwl:hasDbXref OMIM:614290 semapv:UnspecifiedMatching -orphanet.ordo:3307 Tetrasomy 18p oboInOwl:hasDbXref UMLS:C0795868 semapv:UnspecifiedMatching -orphanet.ordo:3309 Tetrasomy 5p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:331 Congenital factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:331 Congenital factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 semapv:UnspecifiedMatching -orphanet.ordo:331 Congenital factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 semapv:UnspecifiedMatching -orphanet.ordo:331 Congenital factor XIII deficiency oboInOwl:hasDbXref UMLS:C0015530 semapv:UnspecifiedMatching -orphanet.ordo:3310 Tetrasomy 9p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:3310 Tetrasomy 9p oboInOwl:hasDbXref MESH:C538027 semapv:UnspecifiedMatching -orphanet.ordo:3310 Tetrasomy 9p oboInOwl:hasDbXref MeSH:C538027 semapv:UnspecifiedMatching -orphanet.ordo:3310 Tetrasomy 9p oboInOwl:hasDbXref UMLS:C0795832 semapv:UnspecifiedMatching -orphanet.ordo:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref MESH:C537378 semapv:UnspecifiedMatching -orphanet.ordo:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref MeSH:C537378 semapv:UnspecifiedMatching -orphanet.ordo:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref OMIM:253290 semapv:UnspecifiedMatching -orphanet.ordo:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C1854678 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:601495 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:612692 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613500 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613501 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613502 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613506 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:615214 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:616941 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:619693 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:619707 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:619824 semapv:UnspecifiedMatching -orphanet.ordo:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref UMLS:C1832241 semapv:UnspecifiedMatching -orphanet.ordo:33111 Granulomatous slack skin oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching -orphanet.ordo:33111 Granulomatous slack skin oboInOwl:hasDbXref UMLS:C0376407 semapv:UnspecifiedMatching -orphanet.ordo:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching -orphanet.ordo:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref UMLS:C2675526 semapv:UnspecifiedMatching -orphanet.ordo:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref OMIM:613791 semapv:UnspecifiedMatching -orphanet.ordo:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref UMLS:C3151085 semapv:UnspecifiedMatching -orphanet.ordo:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref OMIM:613860 semapv:UnspecifiedMatching -orphanet.ordo:3312 Thalidomide embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:3312 Thalidomide embryopathy oboInOwl:hasDbXref MedDRA:10071249 semapv:UnspecifiedMatching -orphanet.ordo:3312 Thalidomide embryopathy oboInOwl:hasDbXref UMLS:C0432365 semapv:UnspecifiedMatching -orphanet.ordo:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref OMIM:601457 semapv:UnspecifiedMatching -orphanet.ordo:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref UMLS:C1832322 semapv:UnspecifiedMatching -orphanet.ordo:331223 Hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C3887645 semapv:UnspecifiedMatching -orphanet.ordo:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching -orphanet.ordo:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref OMIM:611521 semapv:UnspecifiedMatching -orphanet.ordo:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref UMLS:C1969086 semapv:UnspecifiedMatching -orphanet.ordo:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching -orphanet.ordo:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching -orphanet.ordo:3314 Thiemann disease, familial form oboInOwl:hasDbXref OMIM:165700 semapv:UnspecifiedMatching -orphanet.ordo:3316 Thomas syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3316 Thomas syndrome oboInOwl:hasDbXref MESH:C536514 semapv:UnspecifiedMatching -orphanet.ordo:3316 Thomas syndrome oboInOwl:hasDbXref MeSH:C536514 semapv:UnspecifiedMatching -orphanet.ordo:3316 Thomas syndrome oboInOwl:hasDbXref UMLS:C2931225 semapv:UnspecifiedMatching -orphanet.ordo:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref MESH:C536517 semapv:UnspecifiedMatching -orphanet.ordo:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref MeSH:C536517 semapv:UnspecifiedMatching -orphanet.ordo:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref OMIM:187760 semapv:UnspecifiedMatching -orphanet.ordo:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref OMIM:187770 semapv:UnspecifiedMatching -orphanet.ordo:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref UMLS:C1861197 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref ICD10:D47.3 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref MESH:D013920 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref MeSH:D013920 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref MedDRA:10015493 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching -orphanet.ordo:3318 Essential thrombocythemia oboInOwl:hasDbXref UMLS:C0040028 semapv:UnspecifiedMatching -orphanet.ordo:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching -orphanet.ordo:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MeSH:C535982 semapv:UnspecifiedMatching -orphanet.ordo:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching -orphanet.ordo:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS:C1327915 semapv:UnspecifiedMatching -orphanet.ordo:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching -orphanet.ordo:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref MedDRA:10070440 semapv:UnspecifiedMatching -orphanet.ordo:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:243320 semapv:UnspecifiedMatching -orphanet.ordo:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:261000 semapv:UnspecifiedMatching -orphanet.ordo:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref UMLS:C1394891 semapv:UnspecifiedMatching -orphanet.ordo:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MedDRA:10071719 semapv:UnspecifiedMatching -orphanet.ordo:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching -orphanet.ordo:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS:C0175703 semapv:UnspecifiedMatching -orphanet.ordo:33208 Idiopathic hypersomnia oboInOwl:hasDbXref ICD10:F51.1 semapv:UnspecifiedMatching -orphanet.ordo:33208 Idiopathic hypersomnia oboInOwl:hasDbXref UMLS:C0751757 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref MESH:C536068 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref MeSH:C536068 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:305000 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:613989 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:613990 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:615190 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616353 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching -orphanet.ordo:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref UMLS:C1846142 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref ICD10:C88.0 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MESH:D008258 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MeSH:D008258 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MedDRA:10047801 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:153600 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:610430 semapv:UnspecifiedMatching -orphanet.ordo:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref UMLS:C0024419 semapv:UnspecifiedMatching -orphanet.ordo:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref MESH:C536900 semapv:UnspecifiedMatching -orphanet.ordo:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref MeSH:C536900 semapv:UnspecifiedMatching -orphanet.ordo:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref UMLS:C2931365 semapv:UnspecifiedMatching -orphanet.ordo:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref ICD10:D69.5 semapv:UnspecifiedMatching -orphanet.ordo:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref MedDRA:10062506 semapv:UnspecifiedMatching -orphanet.ordo:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref UMLS:C0272285 semapv:UnspecifiedMatching -orphanet.ordo:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref MESH:C536907 semapv:UnspecifiedMatching -orphanet.ordo:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref MeSH:C536907 semapv:UnspecifiedMatching -orphanet.ordo:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref OMIM:274265 semapv:UnspecifiedMatching -orphanet.ordo:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref UMLS:C1848812 semapv:UnspecifiedMatching -orphanet.ordo:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching -orphanet.ordo:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref OMIM:274240 semapv:UnspecifiedMatching -orphanet.ordo:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref UMLS:C1848813 semapv:UnspecifiedMatching -orphanet.ordo:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.1 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.2 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.3 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.7 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.8 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.9 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref MESH:D012514 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref MeSH:D012514 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref MedDRA:10023284 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref OMIM:148000 semapv:UnspecifiedMatching -orphanet.ordo:33276 Kaposi sarcoma oboInOwl:hasDbXref UMLS:C0036220 semapv:UnspecifiedMatching -orphanet.ordo:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref MESH:C536918 semapv:UnspecifiedMatching -orphanet.ordo:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref MeSH:C536918 semapv:UnspecifiedMatching -orphanet.ordo:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref OMIM:601027 semapv:UnspecifiedMatching -orphanet.ordo:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref UMLS:C2931368 semapv:UnspecifiedMatching -orphanet.ordo:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:119100 semapv:UnspecifiedMatching -orphanet.ordo:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:610685 semapv:UnspecifiedMatching -orphanet.ordo:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:612576 semapv:UnspecifiedMatching -orphanet.ordo:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C1861553 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref MESH:C537075 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref MESH:D055577 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref MeSH:C537075 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref MeSH:D055577 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref OMIM:228000 semapv:UnspecifiedMatching -orphanet.ordo:333 Farber disease oboInOwl:hasDbXref UMLS:C0268255 semapv:UnspecifiedMatching -orphanet.ordo:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching -orphanet.ordo:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref UMLS:C0580181 semapv:UnspecifiedMatching -orphanet.ordo:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching -orphanet.ordo:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 semapv:UnspecifiedMatching -orphanet.ordo:33355 Reticular dysgenesis oboInOwl:hasDbXref MESH:C538361 semapv:UnspecifiedMatching -orphanet.ordo:33355 Reticular dysgenesis oboInOwl:hasDbXref MeSH:C538361 semapv:UnspecifiedMatching -orphanet.ordo:33355 Reticular dysgenesis oboInOwl:hasDbXref OMIM:267500 semapv:UnspecifiedMatching -orphanet.ordo:33355 Reticular dysgenesis oboInOwl:hasDbXref UMLS:C0272167 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref MeSH:D054463 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref MedDRA:10044628 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:300953 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616390 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616395 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616943 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:618546 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:619691 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:619692 semapv:UnspecifiedMatching -orphanet.ordo:33364 Trichothiodystrophy oboInOwl:hasDbXref UMLS:C1955934 semapv:UnspecifiedMatching -orphanet.ordo:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:134600 semapv:UnspecifiedMatching -orphanet.ordo:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:613388 semapv:UnspecifiedMatching -orphanet.ordo:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:615605 semapv:UnspecifiedMatching -orphanet.ordo:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:618913 semapv:UnspecifiedMatching -orphanet.ordo:3338 Toriello-Carey syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3338 Toriello-Carey syndrome oboInOwl:hasDbXref OMIM:217980 semapv:UnspecifiedMatching -orphanet.ordo:3338 Toriello-Carey syndrome oboInOwl:hasDbXref UMLS:C0796184 semapv:UnspecifiedMatching -orphanet.ordo:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching -orphanet.ordo:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608583 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608988 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611493 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611494 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:612201 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:612240 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613055 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613980 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614022 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614049 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614050 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615377 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615378 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615770 semapv:UnspecifiedMatching -orphanet.ordo:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:617280 semapv:UnspecifiedMatching -orphanet.ordo:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching -orphanet.ordo:33408 Bullous lichen planus oboInOwl:hasDbXref ICD10:L43.1 semapv:UnspecifiedMatching -orphanet.ordo:33408 Bullous lichen planus oboInOwl:hasDbXref MedDRA:10056960 semapv:UnspecifiedMatching -orphanet.ordo:33408 Bullous lichen planus oboInOwl:hasDbXref UMLS:C0023648 semapv:UnspecifiedMatching -orphanet.ordo:33409 NON RARE IN EUROPE: Lichen sclerosus oboInOwl:hasDbXref ICD10:L90.0 semapv:UnspecifiedMatching -orphanet.ordo:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref MESH:C536970 semapv:UnspecifiedMatching -orphanet.ordo:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref MeSH:C536970 semapv:UnspecifiedMatching -orphanet.ordo:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref OMIM:314300 semapv:UnspecifiedMatching -orphanet.ordo:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1839129 semapv:UnspecifiedMatching -orphanet.ordo:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I77.1 semapv:UnspecifiedMatching -orphanet.ordo:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref OMIM:208050 semapv:UnspecifiedMatching -orphanet.ordo:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref UMLS:C1859726 semapv:UnspecifiedMatching -orphanet.ordo:3343 Toxocariasis oboInOwl:hasDbXref ICD10:B83.0 semapv:UnspecifiedMatching -orphanet.ordo:3343 Toxocariasis oboInOwl:hasDbXref MESH:D014120 semapv:UnspecifiedMatching -orphanet.ordo:3343 Toxocariasis oboInOwl:hasDbXref MeSH:D014120 semapv:UnspecifiedMatching -orphanet.ordo:3343 Toxocariasis oboInOwl:hasDbXref MedDRA:10044269 semapv:UnspecifiedMatching -orphanet.ordo:3343 Toxocariasis oboInOwl:hasDbXref UMLS:C0040553 semapv:UnspecifiedMatching -orphanet.ordo:3344 Weismann-Netter syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:3344 Weismann-Netter syndrome oboInOwl:hasDbXref MESH:C537082 semapv:UnspecifiedMatching -orphanet.ordo:3344 Weismann-Netter syndrome oboInOwl:hasDbXref MeSH:C537082 semapv:UnspecifiedMatching -orphanet.ordo:3344 Weismann-Netter syndrome oboInOwl:hasDbXref OMIM:112350 semapv:UnspecifiedMatching -orphanet.ordo:3344 Weismann-Netter syndrome oboInOwl:hasDbXref UMLS:C1862172 semapv:UnspecifiedMatching -orphanet.ordo:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching -orphanet.ordo:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref MESH:C536203 semapv:UnspecifiedMatching -orphanet.ordo:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref MeSH:C536203 semapv:UnspecifiedMatching -orphanet.ordo:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref OMIM:256710 semapv:UnspecifiedMatching -orphanet.ordo:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref UMLS:C1860157 semapv:UnspecifiedMatching -orphanet.ordo:3346 Tracheal agenesis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:3346 Tracheal agenesis oboInOwl:hasDbXref MESH:C536975 semapv:UnspecifiedMatching -orphanet.ordo:3346 Tracheal agenesis oboInOwl:hasDbXref MeSH:C536975 semapv:UnspecifiedMatching -orphanet.ordo:3346 Tracheal agenesis oboInOwl:hasDbXref UMLS:C1261567 semapv:UnspecifiedMatching -orphanet.ordo:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching -orphanet.ordo:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MESH:D014137 semapv:UnspecifiedMatching -orphanet.ordo:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MeSH:D014137 semapv:UnspecifiedMatching -orphanet.ordo:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MedDRA:10044316 semapv:UnspecifiedMatching -orphanet.ordo:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref OMIM:275300 semapv:UnspecifiedMatching -orphanet.ordo:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref UMLS:C0040587 semapv:UnspecifiedMatching -orphanet.ordo:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:A39.0+ semapv:UnspecifiedMatching -orphanet.ordo:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching -orphanet.ordo:33475 Meningococcal meningitis oboInOwl:hasDbXref MESH:D008585 semapv:UnspecifiedMatching -orphanet.ordo:33475 Meningococcal meningitis oboInOwl:hasDbXref MeSH:D008585 semapv:UnspecifiedMatching -orphanet.ordo:33475 Meningococcal meningitis oboInOwl:hasDbXref MedDRA:10027249 semapv:UnspecifiedMatching -orphanet.ordo:33475 Meningococcal meningitis oboInOwl:hasDbXref UMLS:C0025294 semapv:UnspecifiedMatching -orphanet.ordo:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching -orphanet.ordo:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref OMIM:189961 semapv:UnspecifiedMatching -orphanet.ordo:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref UMLS:C0520538 semapv:UnspecifiedMatching -orphanet.ordo:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref MESH:C536544 semapv:UnspecifiedMatching -orphanet.ordo:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref MeSH:C536544 semapv:UnspecifiedMatching -orphanet.ordo:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref UMLS:C2931235 semapv:UnspecifiedMatching -orphanet.ordo:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching -orphanet.ordo:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching -orphanet.ordo:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching -orphanet.ordo:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref OMIM:190310 semapv:UnspecifiedMatching -orphanet.ordo:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref UMLS:C1860860 semapv:UnspecifiedMatching -orphanet.ordo:3351 Trichodental syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3351 Trichodental syndrome oboInOwl:hasDbXref MESH:C536551 semapv:UnspecifiedMatching -orphanet.ordo:3351 Trichodental syndrome oboInOwl:hasDbXref MeSH:C536551 semapv:UnspecifiedMatching -orphanet.ordo:3351 Trichodental syndrome oboInOwl:hasDbXref OMIM:601453 semapv:UnspecifiedMatching -orphanet.ordo:3351 Trichodental syndrome oboInOwl:hasDbXref UMLS:C0406724 semapv:UnspecifiedMatching -orphanet.ordo:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref MESH:C536549 semapv:UnspecifiedMatching -orphanet.ordo:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref MeSH:C536549 semapv:UnspecifiedMatching -orphanet.ordo:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref OMIM:190320 semapv:UnspecifiedMatching -orphanet.ordo:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref UMLS:C0265333 semapv:UnspecifiedMatching -orphanet.ordo:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref UMLS:C2931485 semapv:UnspecifiedMatching -orphanet.ordo:33543 Kleine-Levin syndrome oboInOwl:hasDbXref ICD10:G47.8 semapv:UnspecifiedMatching -orphanet.ordo:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MESH:D017593 semapv:UnspecifiedMatching -orphanet.ordo:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MeSH:D017593 semapv:UnspecifiedMatching -orphanet.ordo:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MedDRA:10053712 semapv:UnspecifiedMatching -orphanet.ordo:33543 Kleine-Levin syndrome oboInOwl:hasDbXref OMIM:148840 semapv:UnspecifiedMatching -orphanet.ordo:33543 Kleine-Levin syndrome oboInOwl:hasDbXref UMLS:C0206085 semapv:UnspecifiedMatching -orphanet.ordo:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref OMIM:275450 semapv:UnspecifiedMatching -orphanet.ordo:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref UMLS:C3502453 semapv:UnspecifiedMatching -orphanet.ordo:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref MESH:C535322 semapv:UnspecifiedMatching -orphanet.ordo:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref MeSH:C535322 semapv:UnspecifiedMatching -orphanet.ordo:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref OMIM:260005 semapv:UnspecifiedMatching -orphanet.ordo:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref UMLS:C0268525 semapv:UnspecifiedMatching -orphanet.ordo:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM:231950 semapv:UnspecifiedMatching -orphanet.ordo:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS:C0268524 semapv:UnspecifiedMatching -orphanet.ordo:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching -orphanet.ordo:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching -orphanet.ordo:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS:C1856603 semapv:UnspecifiedMatching -orphanet.ordo:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref ICD10:M35.6 semapv:UnspecifiedMatching -orphanet.ordo:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MESH:D010201 semapv:UnspecifiedMatching -orphanet.ordo:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MeSH:D010201 semapv:UnspecifiedMatching -orphanet.ordo:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MedDRA:10047883 semapv:UnspecifiedMatching -orphanet.ordo:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref UMLS:C0030328 semapv:UnspecifiedMatching -orphanet.ordo:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries oboInOwl:hasDbXref ICD10:I77.3 semapv:UnspecifiedMatching -orphanet.ordo:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref OMIM:190360 semapv:UnspecifiedMatching -orphanet.ordo:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref UMLS:C1860822 semapv:UnspecifiedMatching -orphanet.ordo:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching -orphanet.ordo:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref UMLS:C1848745 semapv:UnspecifiedMatching -orphanet.ordo:3365 Trigonocephaly-broad thumbs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref OMIM:190440 semapv:UnspecifiedMatching -orphanet.ordo:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref OMIM:614485 semapv:UnspecifiedMatching -orphanet.ordo:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref UMLS:C0265535 semapv:UnspecifiedMatching -orphanet.ordo:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref OMIM:275595 semapv:UnspecifiedMatching -orphanet.ordo:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref UMLS:C1848743 semapv:UnspecifiedMatching -orphanet.ordo:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref OMIM:314320 semapv:UnspecifiedMatching -orphanet.ordo:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref UMLS:C1839125 semapv:UnspecifiedMatching -orphanet.ordo:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10:M61.1 semapv:UnspecifiedMatching -orphanet.ordo:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching -orphanet.ordo:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MeSH:D009221 semapv:UnspecifiedMatching -orphanet.ordo:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MedDRA:10068715 semapv:UnspecifiedMatching -orphanet.ordo:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 semapv:UnspecifiedMatching -orphanet.ordo:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS:C0016037 semapv:UnspecifiedMatching -orphanet.ordo:3374 Unilateral ocular duplication oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:3375 Trisomy X oboInOwl:hasDbXref ICD10:Q97.0 semapv:UnspecifiedMatching -orphanet.ordo:3375 Trisomy X oboInOwl:hasDbXref MESH:D014314 semapv:UnspecifiedMatching -orphanet.ordo:3375 Trisomy X oboInOwl:hasDbXref MeSH:D014314 semapv:UnspecifiedMatching -orphanet.ordo:3375 Trisomy X oboInOwl:hasDbXref UMLS:C0221033 semapv:UnspecifiedMatching -orphanet.ordo:3376 Triploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching -orphanet.ordo:3376 Triploidy oboInOwl:hasDbXref MESH:D057885 semapv:UnspecifiedMatching -orphanet.ordo:3376 Triploidy oboInOwl:hasDbXref MeSH:D057885 semapv:UnspecifiedMatching -orphanet.ordo:3376 Triploidy oboInOwl:hasDbXref UMLS:C0333693 semapv:UnspecifiedMatching -orphanet.ordo:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:158300 semapv:UnspecifiedMatching -orphanet.ordo:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C0265226 semapv:UnspecifiedMatching -orphanet.ordo:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.4 semapv:UnspecifiedMatching -orphanet.ordo:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.5 semapv:UnspecifiedMatching -orphanet.ordo:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.6 semapv:UnspecifiedMatching -orphanet.ordo:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.7 semapv:UnspecifiedMatching -orphanet.ordo:3378 Trisomy 13 oboInOwl:hasDbXref MedDRA:10044686 semapv:UnspecifiedMatching -orphanet.ordo:3378 Trisomy 13 oboInOwl:hasDbXref UMLS:C0152095 semapv:UnspecifiedMatching -orphanet.ordo:3379 Distal duplication 17q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:3379 Distal duplication 17q oboInOwl:hasDbXref MESH:C536579 semapv:UnspecifiedMatching -orphanet.ordo:3379 Distal duplication 17q oboInOwl:hasDbXref MeSH:C536579 semapv:UnspecifiedMatching -orphanet.ordo:3379 Distal duplication 17q oboInOwl:hasDbXref UMLS:C2931247 semapv:UnspecifiedMatching -orphanet.ordo:338 Familial multiple fibrofolliculoma oboInOwl:hasDbXref ICD10:C23.9 semapv:UnspecifiedMatching -orphanet.ordo:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.0 semapv:UnspecifiedMatching -orphanet.ordo:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.1 semapv:UnspecifiedMatching -orphanet.ordo:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.2 semapv:UnspecifiedMatching -orphanet.ordo:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.3 semapv:UnspecifiedMatching -orphanet.ordo:3380 Trisomy 18 oboInOwl:hasDbXref MedDRA:10053884 semapv:UnspecifiedMatching -orphanet.ordo:3380 Trisomy 18 oboInOwl:hasDbXref UMLS:C0152096 semapv:UnspecifiedMatching -orphanet.ordo:3383 Humerus trochlea aplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:3383 Humerus trochlea aplasia oboInOwl:hasDbXref OMIM:191000 semapv:UnspecifiedMatching -orphanet.ordo:3383 Humerus trochlea aplasia oboInOwl:hasDbXref UMLS:C1860773 semapv:UnspecifiedMatching -orphanet.ordo:3384 Truncus arteriosus oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching -orphanet.ordo:3384 Truncus arteriosus oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching -orphanet.ordo:3384 Truncus arteriosus oboInOwl:hasDbXref UMLS:C0041207 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.1 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.9 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref MESH:D014353 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref MeSH:D014353 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref MedDRA:10001461 semapv:UnspecifiedMatching -orphanet.ordo:3385 African trypanosomiasis oboInOwl:hasDbXref UMLS:C0041228 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.0 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.1 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.2 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.3 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.4 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.5 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref MedDRA:10001935 semapv:UnspecifiedMatching -orphanet.ordo:3386 American trypanosomiasis oboInOwl:hasDbXref UMLS:C0041234 semapv:UnspecifiedMatching -orphanet.ordo:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching -orphanet.ordo:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref OMIM:600457 semapv:UnspecifiedMatching -orphanet.ordo:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref UMLS:C1838123 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A16 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref MESH:D014376 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref MeSH:D014376 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref MedDRA:10044755 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref OMIM:607948 semapv:UnspecifiedMatching -orphanet.ordo:3389 Tuberculosis oboInOwl:hasDbXref UMLS:C0041296 semapv:UnspecifiedMatching -orphanet.ordo:3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:560000 semapv:UnspecifiedMatching -orphanet.ordo:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome oboInOwl:hasDbXref OMIM:129550 semapv:UnspecifiedMatching -orphanet.ordo:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome oboInOwl:hasDbXref UMLS:C1851850 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.0 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.1 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.2 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.3 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.7 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.8 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.9 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref MESH:D014406 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref MeSH:D014406 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref MedDRA:10045146 semapv:UnspecifiedMatching -orphanet.ordo:3392 Tularemia oboInOwl:hasDbXref UMLS:C0041351 semapv:UnspecifiedMatching -orphanet.ordo:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref MESH:C536905 semapv:UnspecifiedMatching -orphanet.ordo:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref MeSH:C536905 semapv:UnspecifiedMatching -orphanet.ordo:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref UMLS:C1266101 semapv:UnspecifiedMatching -orphanet.ordo:3399 Germ cell tumor oboInOwl:hasDbXref UMLS:C0740345 semapv:UnspecifiedMatching -orphanet.ordo:34 Pipecolic acidemia oboInOwl:hasDbXref MESH:D018901 semapv:UnspecifiedMatching -orphanet.ordo:34 Pipecolic acidemia oboInOwl:hasDbXref MeSH:D018901 semapv:UnspecifiedMatching -orphanet.ordo:34 Pipecolic acidemia oboInOwl:hasDbXref UMLS:C0268537 semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:A98.5+ semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:N08.0* semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MESH:C535630 semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MESH:D006480 semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MeSH:C535630 semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MeSH:D006480 semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MedDRA:10023484 semapv:UnspecifiedMatching -orphanet.ordo:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref UMLS:C0019101 semapv:UnspecifiedMatching -orphanet.ordo:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref ICD10:P74.5 semapv:UnspecifiedMatching -orphanet.ordo:3403 Uhl anomaly oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:3403 Uhl anomaly oboInOwl:hasDbXref MESH:C536932 semapv:UnspecifiedMatching -orphanet.ordo:3403 Uhl anomaly oboInOwl:hasDbXref MeSH:C536932 semapv:UnspecifiedMatching -orphanet.ordo:3403 Uhl anomaly oboInOwl:hasDbXref MedDRA:10048951 semapv:UnspecifiedMatching -orphanet.ordo:3403 Uhl anomaly oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -orphanet.ordo:3403 Uhl anomaly oboInOwl:hasDbXref UMLS:C0265857 semapv:UnspecifiedMatching -orphanet.ordo:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref OMIM:266910 semapv:UnspecifiedMatching -orphanet.ordo:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref UMLS:C1849438 semapv:UnspecifiedMatching -orphanet.ordo:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching -orphanet.ordo:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref MESH:C536938 semapv:UnspecifiedMatching -orphanet.ordo:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref MeSH:C536938 semapv:UnspecifiedMatching -orphanet.ordo:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref UMLS:C2931371 semapv:UnspecifiedMatching -orphanet.ordo:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching -orphanet.ordo:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching -orphanet.ordo:3408 Upington disease oboInOwl:hasDbXref ICD10:M91.8 semapv:UnspecifiedMatching -orphanet.ordo:3408 Upington disease oboInOwl:hasDbXref MESH:C536472 semapv:UnspecifiedMatching -orphanet.ordo:3408 Upington disease oboInOwl:hasDbXref MeSH:C536472 semapv:UnspecifiedMatching -orphanet.ordo:3408 Upington disease oboInOwl:hasDbXref OMIM:191520 semapv:UnspecifiedMatching -orphanet.ordo:3408 Upington disease oboInOwl:hasDbXref UMLS:C1860596 semapv:UnspecifiedMatching -orphanet.ordo:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref OMIM:264010 semapv:UnspecifiedMatching -orphanet.ordo:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref UMLS:C0796189 semapv:UnspecifiedMatching -orphanet.ordo:341 Viral hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019104 semapv:UnspecifiedMatching -orphanet.ordo:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching -orphanet.ordo:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref OMIM:192050 semapv:UnspecifiedMatching -orphanet.ordo:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref UMLS:C4302552 semapv:UnspecifiedMatching -orphanet.ordo:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching -orphanet.ordo:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching -orphanet.ordo:34145 NON RARE IN EUROPE: Berger disease oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching -orphanet.ordo:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching -orphanet.ordo:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching -orphanet.ordo:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching -orphanet.ordo:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching -orphanet.ordo:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching -orphanet.ordo:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref OMIM:239100 semapv:UnspecifiedMatching -orphanet.ordo:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref UMLS:C0432272 semapv:UnspecifiedMatching -orphanet.ordo:3417 Van den Bosch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3417 Van den Bosch syndrome oboInOwl:hasDbXref OMIM:314500 semapv:UnspecifiedMatching -orphanet.ordo:3417 Van den Bosch syndrome oboInOwl:hasDbXref UMLS:C0796192 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref MeSH:D010505 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref MedDRA:10016207 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching -orphanet.ordo:342 Familial Mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 semapv:UnspecifiedMatching -orphanet.ordo:3421 Cerebroretinal vasculopathy oboInOwl:hasDbXref UMLS:C1860518 semapv:UnspecifiedMatching -orphanet.ordo:34217 Naxos disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:34217 Naxos disease oboInOwl:hasDbXref MESH:C538346 semapv:UnspecifiedMatching -orphanet.ordo:34217 Naxos disease oboInOwl:hasDbXref MeSH:C538346 semapv:UnspecifiedMatching -orphanet.ordo:34217 Naxos disease oboInOwl:hasDbXref OMIM:601214 semapv:UnspecifiedMatching -orphanet.ordo:34217 Naxos disease oboInOwl:hasDbXref UMLS:C1832600 semapv:UnspecifiedMatching -orphanet.ordo:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref MESH:C536533 semapv:UnspecifiedMatching -orphanet.ordo:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref MeSH:C536533 semapv:UnspecifiedMatching -orphanet.ordo:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref UMLS:C2931231 semapv:UnspecifiedMatching -orphanet.ordo:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref OMIM:600736 semapv:UnspecifiedMatching -orphanet.ordo:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref UMLS:C1833380 semapv:UnspecifiedMatching -orphanet.ordo:3426 Double outlet right ventricle oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:3426 Double outlet right ventricle oboInOwl:hasDbXref MESH:D004310 semapv:UnspecifiedMatching -orphanet.ordo:3426 Double outlet right ventricle oboInOwl:hasDbXref MeSH:D004310 semapv:UnspecifiedMatching -orphanet.ordo:3426 Double outlet right ventricle oboInOwl:hasDbXref MedDRA:10013611 semapv:UnspecifiedMatching -orphanet.ordo:3426 Double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching -orphanet.ordo:3426 Double outlet right ventricle oboInOwl:hasDbXref UMLS:C0013069 semapv:UnspecifiedMatching -orphanet.ordo:3427 Double outlet left ventricle oboInOwl:hasDbXref ICD10:Q20.2 semapv:UnspecifiedMatching -orphanet.ordo:3427 Double outlet left ventricle oboInOwl:hasDbXref UMLS:C0265809 semapv:UnspecifiedMatching -orphanet.ordo:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref MESH:C536541 semapv:UnspecifiedMatching -orphanet.ordo:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref MeSH:C536541 semapv:UnspecifiedMatching -orphanet.ordo:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref OMIM:215850 semapv:UnspecifiedMatching -orphanet.ordo:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref UMLS:C1859082 semapv:UnspecifiedMatching -orphanet.ordo:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref OMIM:260920 semapv:UnspecifiedMatching -orphanet.ordo:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref UMLS:C0398691 semapv:UnspecifiedMatching -orphanet.ordo:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref UMLS:C2931177 semapv:UnspecifiedMatching -orphanet.ordo:3434 MMEP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3434 MMEP syndrome oboInOwl:hasDbXref OMIM:601349 semapv:UnspecifiedMatching -orphanet.ordo:3434 MMEP syndrome oboInOwl:hasDbXref UMLS:C1832440 semapv:UnspecifiedMatching -orphanet.ordo:3435 NON RARE IN EUROPE: Vitiligo oboInOwl:hasDbXref ICD10:L80 semapv:UnspecifiedMatching -orphanet.ordo:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching -orphanet.ordo:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching -orphanet.ordo:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS:C0042170 semapv:UnspecifiedMatching -orphanet.ordo:3438 Biliary tract malformation-renal failure syndrome oboInOwl:hasDbXref UMLS:C0400972 semapv:UnspecifiedMatching -orphanet.ordo:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref OMIM:223340 semapv:UnspecifiedMatching -orphanet.ordo:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref UMLS:C1857226 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref MeSH:D014849 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref MedDRA:10069203 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching -orphanet.ordo:3440 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 semapv:UnspecifiedMatching -orphanet.ordo:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching -orphanet.ordo:3444 Watson syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:3444 Watson syndrome oboInOwl:hasDbXref OMIM:193520 semapv:UnspecifiedMatching -orphanet.ordo:3444 Watson syndrome oboInOwl:hasDbXref UMLS:C0553586 semapv:UnspecifiedMatching -orphanet.ordo:3446 Weaver-like syndrome oboInOwl:hasDbXref UMLS:C0220765 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref MESH:C536687 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref MeSH:C536687 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:617561 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:618786 semapv:UnspecifiedMatching -orphanet.ordo:3447 Weaver syndrome oboInOwl:hasDbXref UMLS:C0265210 semapv:UnspecifiedMatching -orphanet.ordo:3448 Weaver-Williams syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MESH:D056846 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MeSH:D056846 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MedDRA:10064963 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:277600 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:614819 semapv:UnspecifiedMatching -orphanet.ordo:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C0265313 semapv:UnspecifiedMatching -orphanet.ordo:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching -orphanet.ordo:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref MedDRA:10056961 semapv:UnspecifiedMatching -orphanet.ordo:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref OMIM:260910 semapv:UnspecifiedMatching -orphanet.ordo:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching -orphanet.ordo:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS:C1848488 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref MedDRA:10021750 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:613477 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:615006 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:616139 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:617065 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:617929 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:618298 semapv:UnspecifiedMatching -orphanet.ordo:3451 Infantile spasms syndrome oboInOwl:hasDbXref UMLS:C0037769 semapv:UnspecifiedMatching -orphanet.ordo:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref OMIM:601954 semapv:UnspecifiedMatching -orphanet.ordo:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref UMLS:C1866008 semapv:UnspecifiedMatching -orphanet.ordo:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref OMIM:607155 semapv:UnspecifiedMatching -orphanet.ordo:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref UMLS:C1846672 semapv:UnspecifiedMatching -orphanet.ordo:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref OMIM:603511 semapv:UnspecifiedMatching -orphanet.ordo:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref UMLS:C3501858 semapv:UnspecifiedMatching -orphanet.ordo:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref UMLS:C3148763 semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref ICD10:K90.8+ semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref ICD10:M14.8* semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref MESH:C531849 semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref MESH:D008061 semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref MeSH:C531849 semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref MeSH:D008061 semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref MedDRA:10047931 semapv:UnspecifiedMatching -orphanet.ordo:3452 Whipple disease oboInOwl:hasDbXref UMLS:C0023788 semapv:UnspecifiedMatching -orphanet.ordo:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 semapv:UnspecifiedMatching -orphanet.ordo:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref UMLS:C2750786 semapv:UnspecifiedMatching -orphanet.ordo:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching -orphanet.ordo:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref UMLS:C1843633 semapv:UnspecifiedMatching -orphanet.ordo:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref OMIM:154020 semapv:UnspecifiedMatching -orphanet.ordo:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref UMLS:C1835171 semapv:UnspecifiedMatching -orphanet.ordo:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching -orphanet.ordo:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref MESH:C538275 semapv:UnspecifiedMatching -orphanet.ordo:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref MeSH:C538275 semapv:UnspecifiedMatching -orphanet.ordo:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref OMIM:240300 semapv:UnspecifiedMatching -orphanet.ordo:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref UMLS:C0085859 semapv:UnspecifiedMatching -orphanet.ordo:34533 Corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:34533 Corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching -orphanet.ordo:34533 Corneal dystrophy oboInOwl:hasDbXref MeSH:D003317 semapv:UnspecifiedMatching -orphanet.ordo:34533 Corneal dystrophy oboInOwl:hasDbXref MedDRA:10011005 semapv:UnspecifiedMatching -orphanet.ordo:34533 Corneal dystrophy oboInOwl:hasDbXref UMLS:C0010036 semapv:UnspecifiedMatching -orphanet.ordo:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref MESH:C536703 semapv:UnspecifiedMatching -orphanet.ordo:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref MeSH:C536703 semapv:UnspecifiedMatching -orphanet.ordo:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref OMIM:314580 semapv:UnspecifiedMatching -orphanet.ordo:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref UMLS:C0796200 semapv:UnspecifiedMatching -orphanet.ordo:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref MESH:C536423 semapv:UnspecifiedMatching -orphanet.ordo:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref MeSH:C536423 semapv:UnspecifiedMatching -orphanet.ordo:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref OMIM:264090 semapv:UnspecifiedMatching -orphanet.ordo:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref UMLS:C0406586 semapv:UnspecifiedMatching -orphanet.ordo:3456 Wildervanck syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3456 Wildervanck syndrome oboInOwl:hasDbXref MESH:C536706 semapv:UnspecifiedMatching -orphanet.ordo:3456 Wildervanck syndrome oboInOwl:hasDbXref MeSH:C536706 semapv:UnspecifiedMatching -orphanet.ordo:3456 Wildervanck syndrome oboInOwl:hasDbXref MedDRA:10069402 semapv:UnspecifiedMatching -orphanet.ordo:3456 Wildervanck syndrome oboInOwl:hasDbXref OMIM:314600 semapv:UnspecifiedMatching -orphanet.ordo:3456 Wildervanck syndrome oboInOwl:hasDbXref UMLS:C0265239 semapv:UnspecifiedMatching -orphanet.ordo:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching -orphanet.ordo:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching -orphanet.ordo:3459 Wilson-Turner syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3459 Wilson-Turner syndrome oboInOwl:hasDbXref OMIM:309585 semapv:UnspecifiedMatching -orphanet.ordo:3459 Wilson-Turner syndrome oboInOwl:hasDbXref UMLS:C1839736 semapv:UnspecifiedMatching -orphanet.ordo:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref ICD10:D81.6 semapv:UnspecifiedMatching -orphanet.ordo:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:241600 semapv:UnspecifiedMatching -orphanet.ordo:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:604571 semapv:UnspecifiedMatching -orphanet.ordo:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref UMLS:C1858266 semapv:UnspecifiedMatching -orphanet.ordo:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref ICD10:L66.2 semapv:UnspecifiedMatching -orphanet.ordo:3460 Torg-Winchester syndrome oboInOwl:hasDbXref MESH:C536051 semapv:UnspecifiedMatching -orphanet.ordo:3460 Torg-Winchester syndrome oboInOwl:hasDbXref MeSH:C536051 semapv:UnspecifiedMatching -orphanet.ordo:3460 Torg-Winchester syndrome oboInOwl:hasDbXref UMLS:C1850155 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref MESH:D014929 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref MeSH:D014929 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:222300 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:598500 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:604928 semapv:UnspecifiedMatching -orphanet.ordo:3463 Wolfram syndrome oboInOwl:hasDbXref UMLS:C0043207 semapv:UnspecifiedMatching -orphanet.ordo:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MESH:C536742 semapv:UnspecifiedMatching -orphanet.ordo:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MeSH:C536742 semapv:UnspecifiedMatching -orphanet.ordo:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 semapv:UnspecifiedMatching -orphanet.ordo:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref UMLS:C0342286 semapv:UnspecifiedMatching -orphanet.ordo:3465 Worster-Drought syndrome oboInOwl:hasDbXref ICD10:G80.8 semapv:UnspecifiedMatching -orphanet.ordo:3465 Worster-Drought syndrome oboInOwl:hasDbXref MESH:C536747 semapv:UnspecifiedMatching -orphanet.ordo:3465 Worster-Drought syndrome oboInOwl:hasDbXref MeSH:C536747 semapv:UnspecifiedMatching -orphanet.ordo:3465 Worster-Drought syndrome oboInOwl:hasDbXref OMIM:185480 semapv:UnspecifiedMatching -orphanet.ordo:3465 Worster-Drought syndrome oboInOwl:hasDbXref UMLS:C0796204 semapv:UnspecifiedMatching -orphanet.ordo:3466 WT limb-blood syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:3466 WT limb-blood syndrome oboInOwl:hasDbXref MESH:C536751 semapv:UnspecifiedMatching -orphanet.ordo:3466 WT limb-blood syndrome oboInOwl:hasDbXref MeSH:C536751 semapv:UnspecifiedMatching -orphanet.ordo:3466 WT limb-blood syndrome oboInOwl:hasDbXref OMIM:194350 semapv:UnspecifiedMatching -orphanet.ordo:3466 WT limb-blood syndrome oboInOwl:hasDbXref UMLS:C1327917 semapv:UnspecifiedMatching -orphanet.ordo:3467 Hereditary xanthinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching -orphanet.ordo:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:603592 semapv:UnspecifiedMatching -orphanet.ordo:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref MESH:C536767 semapv:UnspecifiedMatching -orphanet.ordo:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref MeSH:C536767 semapv:UnspecifiedMatching -orphanet.ordo:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref OMIM:207770 semapv:UnspecifiedMatching -orphanet.ordo:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref UMLS:C0795952 semapv:UnspecifiedMatching -orphanet.ordo:347 Frasier syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching -orphanet.ordo:347 Frasier syndrome oboInOwl:hasDbXref MESH:D052159 semapv:UnspecifiedMatching -orphanet.ordo:347 Frasier syndrome oboInOwl:hasDbXref MeSH:D052159 semapv:UnspecifiedMatching -orphanet.ordo:347 Frasier syndrome oboInOwl:hasDbXref OMIM:136680 semapv:UnspecifiedMatching -orphanet.ordo:347 Frasier syndrome oboInOwl:hasDbXref UMLS:C0950122 semapv:UnspecifiedMatching -orphanet.ordo:3471 Young syndrome oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:3471 Young syndrome oboInOwl:hasDbXref MESH:C536718 semapv:UnspecifiedMatching -orphanet.ordo:3471 Young syndrome oboInOwl:hasDbXref MeSH:C536718 semapv:UnspecifiedMatching -orphanet.ordo:3471 Young syndrome oboInOwl:hasDbXref MedDRA:10063689 semapv:UnspecifiedMatching -orphanet.ordo:3471 Young syndrome oboInOwl:hasDbXref OMIM:279000 semapv:UnspecifiedMatching -orphanet.ordo:3471 Young syndrome oboInOwl:hasDbXref UMLS:C0340037 semapv:UnspecifiedMatching -orphanet.ordo:3472 Yunis-Varon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3472 Yunis-Varon syndrome oboInOwl:hasDbXref MESH:C536719 semapv:UnspecifiedMatching -orphanet.ordo:3472 Yunis-Varon syndrome oboInOwl:hasDbXref MeSH:C536719 semapv:UnspecifiedMatching -orphanet.ordo:3472 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching -orphanet.ordo:3472 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS:C1857663 semapv:UnspecifiedMatching -orphanet.ordo:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:135500 semapv:UnspecifiedMatching -orphanet.ordo:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:616455 semapv:UnspecifiedMatching -orphanet.ordo:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:618658 semapv:UnspecifiedMatching -orphanet.ordo:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:618729 semapv:UnspecifiedMatching -orphanet.ordo:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref UMLS:C0796013 semapv:UnspecifiedMatching -orphanet.ordo:3474 CHIME syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:3474 CHIME syndrome oboInOwl:hasDbXref OMIM:280000 semapv:UnspecifiedMatching -orphanet.ordo:3474 CHIME syndrome oboInOwl:hasDbXref UMLS:C1848392 semapv:UnspecifiedMatching -orphanet.ordo:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching -orphanet.ordo:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 semapv:UnspecifiedMatching -orphanet.ordo:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS:C0016756 semapv:UnspecifiedMatching -orphanet.ordo:349 Fucosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:349 Fucosidosis oboInOwl:hasDbXref MESH:D005645 semapv:UnspecifiedMatching -orphanet.ordo:349 Fucosidosis oboInOwl:hasDbXref MeSH:D005645 semapv:UnspecifiedMatching -orphanet.ordo:349 Fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching -orphanet.ordo:349 Fucosidosis oboInOwl:hasDbXref UMLS:C0016788 semapv:UnspecifiedMatching -orphanet.ordo:35 Propionic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:35 Propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:UnspecifiedMatching -orphanet.ordo:35 Propionic acidemia oboInOwl:hasDbXref MeSH:D056693 semapv:UnspecifiedMatching -orphanet.ordo:35 Propionic acidemia oboInOwl:hasDbXref OMIM:606054 semapv:UnspecifiedMatching -orphanet.ordo:35 Propionic acidemia oboInOwl:hasDbXref UMLS:C0268579 semapv:UnspecifiedMatching -orphanet.ordo:35056 NON RARE IN EUROPE: Trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching -orphanet.ordo:35063 Fulminant viral hepatitis oboInOwl:hasDbXref ICD10:K72 semapv:UnspecifiedMatching -orphanet.ordo:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis oboInOwl:hasDbXref ICD10:B37 semapv:UnspecifiedMatching -orphanet.ordo:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref OMIM:256600 semapv:UnspecifiedMatching -orphanet.ordo:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref OMIM:610217 semapv:UnspecifiedMatching -orphanet.ordo:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref UMLS:C0270724 semapv:UnspecifiedMatching -orphanet.ordo:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref OMIM:600802 semapv:UnspecifiedMatching -orphanet.ordo:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching -orphanet.ordo:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching -orphanet.ordo:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:615529 semapv:UnspecifiedMatching -orphanet.ordo:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C0265534 semapv:UnspecifiedMatching -orphanet.ordo:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching -orphanet.ordo:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching -orphanet.ordo:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:616602 semapv:UnspecifiedMatching -orphanet.ordo:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref UMLS:C0221356 semapv:UnspecifiedMatching -orphanet.ordo:351 Galactosialidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:351 Galactosialidosis oboInOwl:hasDbXref MESH:C536411 semapv:UnspecifiedMatching -orphanet.ordo:351 Galactosialidosis oboInOwl:hasDbXref MeSH:C536411 semapv:UnspecifiedMatching -orphanet.ordo:351 Galactosialidosis oboInOwl:hasDbXref OMIM:256540 semapv:UnspecifiedMatching -orphanet.ordo:351 Galactosialidosis oboInOwl:hasDbXref UMLS:C0268233 semapv:UnspecifiedMatching -orphanet.ordo:35107 Desmosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:35107 Desmosterolosis oboInOwl:hasDbXref OMIM:602398 semapv:UnspecifiedMatching -orphanet.ordo:35107 Desmosterolosis oboInOwl:hasDbXref UMLS:C1865596 semapv:UnspecifiedMatching -orphanet.ordo:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching -orphanet.ordo:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref OMIM:266120 semapv:UnspecifiedMatching -orphanet.ordo:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref UMLS:C1849507 semapv:UnspecifiedMatching -orphanet.ordo:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref OMIM:200950 semapv:UnspecifiedMatching -orphanet.ordo:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref UMLS:C0268410 semapv:UnspecifiedMatching -orphanet.ordo:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching -orphanet.ordo:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C538139 semapv:UnspecifiedMatching -orphanet.ordo:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MeSH:C538139 semapv:UnspecifiedMatching -orphanet.ordo:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MedDRA:10066387 semapv:UnspecifiedMatching -orphanet.ordo:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching -orphanet.ordo:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS:C1283620 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MESH:C536114 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MESH:D054000 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MeSH:C536114 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MeSH:D054000 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MedDRA:10014985 semapv:UnspecifiedMatching -orphanet.ordo:35125 Epidermal nevus syndrome oboInOwl:hasDbXref UMLS:C0334082 semapv:UnspecifiedMatching -orphanet.ordo:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302960 semapv:UnspecifiedMatching -orphanet.ordo:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282102 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref MeSH:D005693 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref MedDRA:10017604 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching -orphanet.ordo:352 Galactosemia oboInOwl:hasDbXref UMLS:C0016952 semapv:UnspecifiedMatching -orphanet.ordo:352328 MEGDEL syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:352328 MEGDEL syndrome oboInOwl:hasDbXref OMIM:614739 semapv:UnspecifiedMatching -orphanet.ordo:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref OMIM:614457 semapv:UnspecifiedMatching -orphanet.ordo:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:615386 semapv:UnspecifiedMatching -orphanet.ordo:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref OMIM:615084 semapv:UnspecifiedMatching -orphanet.ordo:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref OMIM:615156 semapv:UnspecifiedMatching -orphanet.ordo:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching -orphanet.ordo:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching -orphanet.ordo:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref OMIM:615834 semapv:UnspecifiedMatching -orphanet.ordo:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:352540 Oncogenic osteomalacia oboInOwl:hasDbXref ICD10:M83.8 semapv:UnspecifiedMatching -orphanet.ordo:352540 Oncogenic osteomalacia oboInOwl:hasDbXref UMLS:C1274103 semapv:UnspecifiedMatching -orphanet.ordo:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref OMIM:615395 semapv:UnspecifiedMatching -orphanet.ordo:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching -orphanet.ordo:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref OMIM:605021 semapv:UnspecifiedMatching -orphanet.ordo:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching -orphanet.ordo:352613 Male infertility due to NANOS1 mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref OMIM:618049 semapv:UnspecifiedMatching -orphanet.ordo:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref OMIM:615491 semapv:UnspecifiedMatching -orphanet.ordo:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref OMIM:127600 semapv:UnspecifiedMatching -orphanet.ordo:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref UMLS:C0265966 semapv:UnspecifiedMatching -orphanet.ordo:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref OMIM:615225 semapv:UnspecifiedMatching -orphanet.ordo:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref OMIM:615185 semapv:UnspecifiedMatching -orphanet.ordo:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:300905 semapv:UnspecifiedMatching -orphanet.ordo:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref OMIM:615191 semapv:UnspecifiedMatching -orphanet.ordo:352709 CLN13 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:352709 CLN13 disease oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching -orphanet.ordo:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref OMIM:615139 semapv:UnspecifiedMatching -orphanet.ordo:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref OMIM:615147 semapv:UnspecifiedMatching -orphanet.ordo:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching -orphanet.ordo:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching -orphanet.ordo:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C0268494 semapv:UnspecifiedMatching -orphanet.ordo:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching -orphanet.ordo:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C1847132 semapv:UnspecifiedMatching -orphanet.ordo:352740 Ocular albinism with congenital sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref OMIM:615179 semapv:UnspecifiedMatching -orphanet.ordo:352763 Scleredema oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching -orphanet.ordo:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref OMIM:253700 semapv:UnspecifiedMatching -orphanet.ordo:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref UMLS:C0410173 semapv:UnspecifiedMatching -orphanet.ordo:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref OMIM:612949 semapv:UnspecifiedMatching -orphanet.ordo:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching -orphanet.ordo:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:105250 semapv:UnspecifiedMatching -orphanet.ordo:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:613955 semapv:UnspecifiedMatching -orphanet.ordo:353225 NON RARE IN EUROPE: Primary adult open-angle glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching -orphanet.ordo:353253 Burning mouth syndrome oboInOwl:hasDbXref ICD10:K14.6 semapv:UnspecifiedMatching -orphanet.ordo:353253 Burning mouth syndrome oboInOwl:hasDbXref UMLS:C0006430 semapv:UnspecifiedMatching -orphanet.ordo:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching -orphanet.ordo:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching -orphanet.ordo:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching -orphanet.ordo:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:353298 Roifman syndrome oboInOwl:hasDbXref OMIM:616651 semapv:UnspecifiedMatching -orphanet.ordo:353298 Roifman syndrome oboInOwl:hasDbXref UMLS:C1846059 semapv:UnspecifiedMatching -orphanet.ordo:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching -orphanet.ordo:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching -orphanet.ordo:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching -orphanet.ordo:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching -orphanet.ordo:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:610542 semapv:UnspecifiedMatching -orphanet.ordo:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:614750 semapv:UnspecifiedMatching -orphanet.ordo:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching -orphanet.ordo:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:616228 semapv:UnspecifiedMatching -orphanet.ordo:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching -orphanet.ordo:353344 Idiopathic macular telangiectasia type 1 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref MeSH:D016537 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching -orphanet.ordo:354 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C0085131 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref MESH:D005776 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref MeSH:D005776 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref MedDRA:10018048 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching -orphanet.ordo:355 Gaucher disease oboInOwl:hasDbXref UMLS:C0017205 semapv:UnspecifiedMatching -orphanet.ordo:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching -orphanet.ordo:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching -orphanet.ordo:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MeSH:D016098 semapv:UnspecifiedMatching -orphanet.ordo:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MedDRA:10072075 semapv:UnspecifiedMatching -orphanet.ordo:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 semapv:UnspecifiedMatching -orphanet.ordo:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS:C0017495 semapv:UnspecifiedMatching -orphanet.ordo:35612 Nanophthalmos oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:600165 semapv:UnspecifiedMatching -orphanet.ordo:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:609549 semapv:UnspecifiedMatching -orphanet.ordo:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:611897 semapv:UnspecifiedMatching -orphanet.ordo:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching -orphanet.ordo:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:615972 semapv:UnspecifiedMatching -orphanet.ordo:35656 Coenzyme Q10 deficiency oboInOwl:hasDbXref UMLS:C1843920 semapv:UnspecifiedMatching -orphanet.ordo:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching -orphanet.ordo:35686 Serpiginous choroiditis oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching -orphanet.ordo:35686 Serpiginous choroiditis oboInOwl:hasDbXref UMLS:C0729842 semapv:UnspecifiedMatching -orphanet.ordo:35687 Erdheim-Chester disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -orphanet.ordo:35687 Erdheim-Chester disease oboInOwl:hasDbXref MESH:D031249 semapv:UnspecifiedMatching -orphanet.ordo:35687 Erdheim-Chester disease oboInOwl:hasDbXref MeSH:D031249 semapv:UnspecifiedMatching -orphanet.ordo:35687 Erdheim-Chester disease oboInOwl:hasDbXref MedDRA:10060801 semapv:UnspecifiedMatching -orphanet.ordo:35687 Erdheim-Chester disease oboInOwl:hasDbXref UMLS:C0878675 semapv:UnspecifiedMatching -orphanet.ordo:35689 Primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:35689 Primary lateral sclerosis oboInOwl:hasDbXref MedDRA:10036704 semapv:UnspecifiedMatching -orphanet.ordo:35689 Primary lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching -orphanet.ordo:35689 Primary lateral sclerosis oboInOwl:hasDbXref UMLS:C0154682 semapv:UnspecifiedMatching -orphanet.ordo:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:356961 SLC35A2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:356961 SLC35A2-CDG oboInOwl:hasDbXref OMIM:300896 semapv:UnspecifiedMatching -orphanet.ordo:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 semapv:UnspecifiedMatching -orphanet.ordo:35698 Mitochondrial DNA depletion syndrome oboInOwl:hasDbXref MedDRA:10059396 semapv:UnspecifiedMatching -orphanet.ordo:35698 Mitochondrial DNA depletion syndrome oboInOwl:hasDbXref UMLS:C0342782 semapv:UnspecifiedMatching -orphanet.ordo:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref OMIM:615493 semapv:UnspecifiedMatching -orphanet.ordo:357 NON RARE IN EUROPE: Gilbert syndrome oboInOwl:hasDbXref ICD10:E80.4 semapv:UnspecifiedMatching -orphanet.ordo:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref OMIM:613638 semapv:UnspecifiedMatching -orphanet.ordo:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching -orphanet.ordo:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref OMIM:605911 semapv:UnspecifiedMatching -orphanet.ordo:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref UMLS:C2751532 semapv:UnspecifiedMatching -orphanet.ordo:357027 Hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching -orphanet.ordo:357027 Hereditary retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching -orphanet.ordo:357027 Hereditary retinoblastoma oboInOwl:hasDbXref UMLS:C0751483 semapv:UnspecifiedMatching -orphanet.ordo:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching -orphanet.ordo:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching -orphanet.ordo:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref OMIM:612718 semapv:UnspecifiedMatching -orphanet.ordo:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref UMLS:C2675179 semapv:UnspecifiedMatching -orphanet.ordo:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref OMIM:602433 semapv:UnspecifiedMatching -orphanet.ordo:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref UMLS:C1865409 semapv:UnspecifiedMatching -orphanet.ordo:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching -orphanet.ordo:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching -orphanet.ordo:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref UMLS:C0268355 semapv:UnspecifiedMatching -orphanet.ordo:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 semapv:UnspecifiedMatching -orphanet.ordo:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref UMLS:C0342873 semapv:UnspecifiedMatching -orphanet.ordo:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref OMIM:612940 semapv:UnspecifiedMatching -orphanet.ordo:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref UMLS:C2751987 semapv:UnspecifiedMatching -orphanet.ordo:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching -orphanet.ordo:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:617402 semapv:UnspecifiedMatching -orphanet.ordo:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:617403 semapv:UnspecifiedMatching -orphanet.ordo:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 semapv:UnspecifiedMatching -orphanet.ordo:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C1291564 semapv:UnspecifiedMatching -orphanet.ordo:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching -orphanet.ordo:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref MedDRA:10066388 semapv:UnspecifiedMatching -orphanet.ordo:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref OMIM:606824 semapv:UnspecifiedMatching -orphanet.ordo:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref UMLS:C0268186 semapv:UnspecifiedMatching -orphanet.ordo:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching -orphanet.ordo:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C1956395 semapv:UnspecifiedMatching -orphanet.ordo:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching -orphanet.ordo:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C1956396 semapv:UnspecifiedMatching -orphanet.ordo:357154 Oral submucous fibrosis oboInOwl:hasDbXref ICD10:K13.5 semapv:UnspecifiedMatching -orphanet.ordo:357154 Oral submucous fibrosis oboInOwl:hasDbXref UMLS:C0029172 semapv:UnspecifiedMatching -orphanet.ordo:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref OMIM:602562 semapv:UnspecifiedMatching -orphanet.ordo:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref UMLS:C1865181 semapv:UnspecifiedMatching -orphanet.ordo:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615162 semapv:UnspecifiedMatching -orphanet.ordo:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching -orphanet.ordo:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref UMLS:C4755295 semapv:UnspecifiedMatching -orphanet.ordo:357237 Severe combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:357237 Severe combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref OMIM:615206 semapv:UnspecifiedMatching -orphanet.ordo:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref OMIM:615207 semapv:UnspecifiedMatching -orphanet.ordo:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref OMIM:615170 semapv:UnspecifiedMatching -orphanet.ordo:35737 Morning glory disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching -orphanet.ordo:35737 Morning glory disc anomaly oboInOwl:hasDbXref MedDRA:10027974 semapv:UnspecifiedMatching -orphanet.ordo:35737 Morning glory disc anomaly oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching -orphanet.ordo:35737 Morning glory disc anomaly oboInOwl:hasDbXref UMLS:C0549307 semapv:UnspecifiedMatching -orphanet.ordo:357502 Idiopathic nephrotic syndrome oboInOwl:hasDbXref UMLS:C3496337 semapv:UnspecifiedMatching -orphanet.ordo:358 Gitelman syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching -orphanet.ordo:358 Gitelman syndrome oboInOwl:hasDbXref MESH:D053579 semapv:UnspecifiedMatching -orphanet.ordo:358 Gitelman syndrome oboInOwl:hasDbXref MeSH:D053579 semapv:UnspecifiedMatching -orphanet.ordo:358 Gitelman syndrome oboInOwl:hasDbXref MedDRA:10062906 semapv:UnspecifiedMatching -orphanet.ordo:358 Gitelman syndrome oboInOwl:hasDbXref OMIM:263800 semapv:UnspecifiedMatching -orphanet.ordo:358 Gitelman syndrome oboInOwl:hasDbXref UMLS:C0268450 semapv:UnspecifiedMatching -orphanet.ordo:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching -orphanet.ordo:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref UMLS:C0346180 semapv:UnspecifiedMatching -orphanet.ordo:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref ICD10:D51.1 semapv:UnspecifiedMatching -orphanet.ordo:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching -orphanet.ordo:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:618882 semapv:UnspecifiedMatching -orphanet.ordo:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref UMLS:C1306856 semapv:UnspecifiedMatching -orphanet.ordo:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref OMIM:606762 semapv:UnspecifiedMatching -orphanet.ordo:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.0 semapv:UnspecifiedMatching -orphanet.ordo:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.1 semapv:UnspecifiedMatching -orphanet.ordo:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.2 semapv:UnspecifiedMatching -orphanet.ordo:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:227300 semapv:UnspecifiedMatching -orphanet.ordo:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:227310 semapv:UnspecifiedMatching -orphanet.ordo:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:613625 semapv:UnspecifiedMatching -orphanet.ordo:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref UMLS:C1856883 semapv:UnspecifiedMatching -orphanet.ordo:35981 Polymicrogyria oboInOwl:hasDbXref UMLS:C0266464 semapv:UnspecifiedMatching -orphanet.ordo:36 Acrocallosal syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching -orphanet.ordo:36 Acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching -orphanet.ordo:36 Acrocallosal syndrome oboInOwl:hasDbXref UMLS:C0796147 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref MeSH:D005909 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref MedDRA:10018336 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref MedDRA:10018337 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref OMIM:613029 semapv:UnspecifiedMatching -orphanet.ordo:360 Glioblastoma oboInOwl:hasDbXref UMLS:C1621958 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:202200 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:202355 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:607398 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:609197 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:614736 semapv:UnspecifiedMatching -orphanet.ordo:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:617825 semapv:UnspecifiedMatching -orphanet.ordo:362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching -orphanet.ordo:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MESH:D008201 semapv:UnspecifiedMatching -orphanet.ordo:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MeSH:D008201 semapv:UnspecifiedMatching -orphanet.ordo:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MedDRA:10025213 semapv:UnspecifiedMatching -orphanet.ordo:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C0024215 semapv:UnspecifiedMatching -orphanet.ordo:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching -orphanet.ordo:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref ICD10:A38 semapv:UnspecifiedMatching -orphanet.ordo:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref ICD10:L00 semapv:UnspecifiedMatching -orphanet.ordo:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MESH:D013206 semapv:UnspecifiedMatching -orphanet.ordo:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MeSH:D013206 semapv:UnspecifiedMatching -orphanet.ordo:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MedDRA:10041929 semapv:UnspecifiedMatching -orphanet.ordo:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref UMLS:C0038165 semapv:UnspecifiedMatching -orphanet.ordo:36237 Bullous impetigo oboInOwl:hasDbXref ICD10:L01.0 semapv:UnspecifiedMatching -orphanet.ordo:36237 Bullous impetigo oboInOwl:hasDbXref MedDRA:10006563 semapv:UnspecifiedMatching -orphanet.ordo:36237 Bullous impetigo oboInOwl:hasDbXref UMLS:C0021100 semapv:UnspecifiedMatching -orphanet.ordo:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref ICD10:J15.2 semapv:UnspecifiedMatching -orphanet.ordo:36258 Buerger disease oboInOwl:hasDbXref ICD10:I73.1 semapv:UnspecifiedMatching -orphanet.ordo:36258 Buerger disease oboInOwl:hasDbXref OMIM:211480 semapv:UnspecifiedMatching -orphanet.ordo:36258 Buerger disease oboInOwl:hasDbXref UMLS:C0040021 semapv:UnspecifiedMatching -orphanet.ordo:36273 Gastric linitis plastica oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching -orphanet.ordo:36297 NON RARE IN EUROPE: Anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching -orphanet.ordo:363189 Congenital anomaly of the great veins oboInOwl:hasDbXref UMLS:C0158632 semapv:UnspecifiedMatching -orphanet.ordo:363314 Genetic intestinal polyposis oboInOwl:hasDbXref UMLS:C2713443 semapv:UnspecifiedMatching -orphanet.ordo:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -orphanet.ordo:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 semapv:UnspecifiedMatching -orphanet.ordo:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref OMIM:615924 semapv:UnspecifiedMatching -orphanet.ordo:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref OMIM:615368 semapv:UnspecifiedMatching -orphanet.ordo:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref OMIM:615281 semapv:UnspecifiedMatching -orphanet.ordo:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref OMIM:605282 semapv:UnspecifiedMatching -orphanet.ordo:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1854466 semapv:UnspecifiedMatching -orphanet.ordo:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref OMIM:615330 semapv:UnspecifiedMatching -orphanet.ordo:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching -orphanet.ordo:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching -orphanet.ordo:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching -orphanet.ordo:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:613680 semapv:UnspecifiedMatching -orphanet.ordo:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching -orphanet.ordo:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:615290 semapv:UnspecifiedMatching -orphanet.ordo:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1834690 semapv:UnspecifiedMatching -orphanet.ordo:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:615290 semapv:UnspecifiedMatching -orphanet.ordo:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching -orphanet.ordo:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.1 semapv:UnspecifiedMatching -orphanet.ordo:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.2 semapv:UnspecifiedMatching -orphanet.ordo:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.7 semapv:UnspecifiedMatching -orphanet.ordo:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.8 semapv:UnspecifiedMatching -orphanet.ordo:363483 Testicular teratoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching -orphanet.ordo:363483 Testicular teratoma oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -orphanet.ordo:363483 Testicular teratoma oboInOwl:hasDbXref UMLS:C0238451 semapv:UnspecifiedMatching -orphanet.ordo:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching -orphanet.ordo:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref ICD10:C62.1 semapv:UnspecifiedMatching -orphanet.ordo:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -orphanet.ordo:363504 Germ cell tumor of testis oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -orphanet.ordo:363504 Germ cell tumor of testis oboInOwl:hasDbXref UMLS:C1336708 semapv:UnspecifiedMatching -orphanet.ordo:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615328 semapv:UnspecifiedMatching -orphanet.ordo:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching -orphanet.ordo:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref OMIM:615286 semapv:UnspecifiedMatching -orphanet.ordo:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching -orphanet.ordo:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref OMIM:615651 semapv:UnspecifiedMatching -orphanet.ordo:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching -orphanet.ordo:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref OMIM:609821 semapv:UnspecifiedMatching -orphanet.ordo:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref UMLS:C1853278 semapv:UnspecifiedMatching -orphanet.ordo:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref ICD10:G41.8 semapv:UnspecifiedMatching -orphanet.ordo:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref OMIM:615502 semapv:UnspecifiedMatching -orphanet.ordo:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref OMIM:615352 semapv:UnspecifiedMatching -orphanet.ordo:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:615381 semapv:UnspecifiedMatching -orphanet.ordo:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref OMIM:300911 semapv:UnspecifiedMatching -orphanet.ordo:363659 20q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref OMIM:601812 semapv:UnspecifiedMatching -orphanet.ordo:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref UMLS:C1866182 semapv:UnspecifiedMatching -orphanet.ordo:36367 Distal deletion 1q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:36367 Distal deletion 1q oboInOwl:hasDbXref OMIM:612337 semapv:UnspecifiedMatching -orphanet.ordo:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching -orphanet.ordo:363680 2p13.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref OMIM:615074 semapv:UnspecifiedMatching -orphanet.ordo:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref OMIM:613845 semapv:UnspecifiedMatching -orphanet.ordo:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching -orphanet.ordo:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref OMIM:114620 semapv:UnspecifiedMatching -orphanet.ordo:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref UMLS:C2676032 semapv:UnspecifiedMatching -orphanet.ordo:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref OMIM:615945 semapv:UnspecifiedMatching -orphanet.ordo:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:363717 Alexander disease type I oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching -orphanet.ordo:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:363722 Alexander disease type II oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching -orphanet.ordo:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching -orphanet.ordo:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref OMIM:300835 semapv:UnspecifiedMatching -orphanet.ordo:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:601794 semapv:UnspecifiedMatching -orphanet.ordo:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1866256 semapv:UnspecifiedMatching -orphanet.ordo:363746 Balint syndrome oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching -orphanet.ordo:363746 Balint syndrome oboInOwl:hasDbXref UMLS:C0270706 semapv:UnspecifiedMatching -orphanet.ordo:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching -orphanet.ordo:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching -orphanet.ordo:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching -orphanet.ordo:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:162400 semapv:UnspecifiedMatching -orphanet.ordo:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:613640 semapv:UnspecifiedMatching -orphanet.ordo:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:613708 semapv:UnspecifiedMatching -orphanet.ordo:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:615632 semapv:UnspecifiedMatching -orphanet.ordo:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS:C0020071 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604233 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604403 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:607681 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:609800 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:612279 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613060 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613828 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613863 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:616172 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:618482 semapv:UnspecifiedMatching -orphanet.ordo:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref UMLS:C3502809 semapv:UnspecifiedMatching -orphanet.ordo:36388 Paraneoplastic neurologic syndrome oboInOwl:hasDbXref MedDRA:10072106 semapv:UnspecifiedMatching -orphanet.ordo:36388 Paraneoplastic neurologic syndrome oboInOwl:hasDbXref UMLS:C0751911 semapv:UnspecifiedMatching -orphanet.ordo:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching -orphanet.ordo:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1864871 semapv:UnspecifiedMatching -orphanet.ordo:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:36397 Adiposis dolorosa oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching -orphanet.ordo:36397 Adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching -orphanet.ordo:36397 Adiposis dolorosa oboInOwl:hasDbXref MeSH:D000274 semapv:UnspecifiedMatching -orphanet.ordo:36397 Adiposis dolorosa oboInOwl:hasDbXref MedDRA:10001294 semapv:UnspecifiedMatching -orphanet.ordo:36397 Adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching -orphanet.ordo:36397 Adiposis dolorosa oboInOwl:hasDbXref UMLS:C0001529 semapv:UnspecifiedMatching -orphanet.ordo:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching -orphanet.ordo:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:613563 semapv:UnspecifiedMatching -orphanet.ordo:363976 Giant cell tumor of bone oboInOwl:hasDbXref ICD10:D48.0 semapv:UnspecifiedMatching -orphanet.ordo:363976 Giant cell tumor of bone oboInOwl:hasDbXref UMLS:C0206638 semapv:UnspecifiedMatching -orphanet.ordo:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref OMIM:615284 semapv:UnspecifiedMatching -orphanet.ordo:363989 Familial benign flecked retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:363989 Familial benign flecked retina oboInOwl:hasDbXref OMIM:228980 semapv:UnspecifiedMatching -orphanet.ordo:363989 Familial benign flecked retina oboInOwl:hasDbXref UMLS:C1856718 semapv:UnspecifiedMatching -orphanet.ordo:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref OMIM:613195 semapv:UnspecifiedMatching -orphanet.ordo:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching -orphanet.ordo:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching -orphanet.ordo:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref UMLS:C0455988 semapv:UnspecifiedMatching -orphanet.ordo:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref MedDRA:10018464 semapv:UnspecifiedMatching -orphanet.ordo:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching -orphanet.ordo:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching -orphanet.ordo:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching -orphanet.ordo:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref UMLS:C0017920 semapv:UnspecifiedMatching -orphanet.ordo:364013 Immune hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching -orphanet.ordo:364013 Immune hydrops fetalis oboInOwl:hasDbXref UMLS:C0455990 semapv:UnspecifiedMatching -orphanet.ordo:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -orphanet.ordo:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref OMIM:300699 semapv:UnspecifiedMatching -orphanet.ordo:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -orphanet.ordo:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching -orphanet.ordo:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref UMLS:C1858080 semapv:UnspecifiedMatching -orphanet.ordo:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching -orphanet.ordo:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching -orphanet.ordo:364198 Bipartite talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching -orphanet.ordo:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref ICD10:L51.1 semapv:UnspecifiedMatching -orphanet.ordo:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref MESH:D013262 semapv:UnspecifiedMatching -orphanet.ordo:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref MeSH:D013262 semapv:UnspecifiedMatching -orphanet.ordo:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref MedDRA:10042033 semapv:UnspecifiedMatching -orphanet.ordo:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref OMIM:608579 semapv:UnspecifiedMatching -orphanet.ordo:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref UMLS:C0038325 semapv:UnspecifiedMatching -orphanet.ordo:364541 Otopalatodigital syndrome spectrum disorder oboInOwl:hasDbXref UMLS:C2748918 semapv:UnspecifiedMatching -orphanet.ordo:364559 Dysostosis oboInOwl:hasDbXref UMLS:C0013393 semapv:UnspecifiedMatching -orphanet.ordo:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref OMIM:608670 semapv:UnspecifiedMatching -orphanet.ordo:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C1837564 semapv:UnspecifiedMatching -orphanet.ordo:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MESH:D006009 semapv:UnspecifiedMatching -orphanet.ordo:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MeSH:D006009 semapv:UnspecifiedMatching -orphanet.ordo:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MedDRA:10053185 semapv:UnspecifiedMatching -orphanet.ordo:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching -orphanet.ordo:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref UMLS:C0017921 semapv:UnspecifiedMatching -orphanet.ordo:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053250 semapv:UnspecifiedMatching -orphanet.ordo:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref OMIM:232400 semapv:UnspecifiedMatching -orphanet.ordo:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017922 semapv:UnspecifiedMatching -orphanet.ordo:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053249 semapv:UnspecifiedMatching -orphanet.ordo:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -orphanet.ordo:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:263570 semapv:UnspecifiedMatching -orphanet.ordo:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017923 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:C537276 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:D006012 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MeSH:C537276 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MeSH:D006012 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10018462 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232600 semapv:UnspecifiedMatching -orphanet.ordo:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0017924 semapv:UnspecifiedMatching -orphanet.ordo:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref MESH:C536096 semapv:UnspecifiedMatching -orphanet.ordo:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref MeSH:C536096 semapv:UnspecifiedMatching -orphanet.ordo:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:159900 semapv:UnspecifiedMatching -orphanet.ordo:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:616398 semapv:UnspecifiedMatching -orphanet.ordo:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref UMLS:C1834570 semapv:UnspecifiedMatching -orphanet.ordo:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10053240 semapv:UnspecifiedMatching -orphanet.ordo:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232700 semapv:UnspecifiedMatching -orphanet.ordo:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0017925 semapv:UnspecifiedMatching -orphanet.ordo:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching -orphanet.ordo:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref UMLS:C0271865 semapv:UnspecifiedMatching -orphanet.ordo:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:615398 semapv:UnspecifiedMatching -orphanet.ordo:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching -orphanet.ordo:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching -orphanet.ordo:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching -orphanet.ordo:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref OMIM:615285 semapv:UnspecifiedMatching -orphanet.ordo:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref OMIM:616084 semapv:UnspecifiedMatching -orphanet.ordo:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:615376 semapv:UnspecifiedMatching -orphanet.ordo:369873 Obesity due to SIM1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:369881 2p21 microdeletion syndrome without cystinuria oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency oboInOwl:hasDbXref OMIM:616789 semapv:UnspecifiedMatching -orphanet.ordo:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref OMIM:615471 semapv:UnspecifiedMatching -orphanet.ordo:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref OMIM:615440 semapv:UnspecifiedMatching -orphanet.ordo:369920 Pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:369920 Pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref OMIM:615809 semapv:UnspecifiedMatching -orphanet.ordo:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching -orphanet.ordo:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref OMIM:615474 semapv:UnspecifiedMatching -orphanet.ordo:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching -orphanet.ordo:369942 CADDS oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:369942 CADDS oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching -orphanet.ordo:369942 CADDS oboInOwl:hasDbXref UMLS:C1845408 semapv:UnspecifiedMatching -orphanet.ordo:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref OMIM:614857 semapv:UnspecifiedMatching -orphanet.ordo:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref OMIM:309541 semapv:UnspecifiedMatching -orphanet.ordo:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref OMIM:615458 semapv:UnspecifiedMatching -orphanet.ordo:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref OMIM:615508 semapv:UnspecifiedMatching -orphanet.ordo:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching -orphanet.ordo:37 Acrodermatitis enteropathica oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching -orphanet.ordo:37 Acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 semapv:UnspecifiedMatching -orphanet.ordo:37 Acrodermatitis enteropathica oboInOwl:hasDbXref UMLS:C0221036 semapv:UnspecifiedMatching -orphanet.ordo:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0268147 semapv:UnspecifiedMatching -orphanet.ordo:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching -orphanet.ordo:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref OMIM:615926 semapv:UnspecifiedMatching -orphanet.ordo:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref OMIM:615960 semapv:UnspecifiedMatching -orphanet.ordo:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:370034 Familial syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching -orphanet.ordo:370039 Angora hair nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:370052 SCALP syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:370059 NEVADA syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching -orphanet.ordo:370068 Fetal anticonvulsant syndrome oboInOwl:hasDbXref UMLS:C1739111 semapv:UnspecifiedMatching -orphanet.ordo:370076 Fetal carbamazepine syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:614671 semapv:UnspecifiedMatching -orphanet.ordo:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching -orphanet.ordo:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref OMIM:615438 semapv:UnspecifiedMatching -orphanet.ordo:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref OMIM:615312 semapv:UnspecifiedMatching -orphanet.ordo:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref OMIM:113750 semapv:UnspecifiedMatching -orphanet.ordo:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching -orphanet.ordo:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref UMLS:C1876175 semapv:UnspecifiedMatching -orphanet.ordo:370114 Combined cervical dystonia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:370131 White platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:370131 White platelet syndrome oboInOwl:hasDbXref UMLS:C2931293 semapv:UnspecifiedMatching -orphanet.ordo:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching -orphanet.ordo:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0279980 semapv:UnspecifiedMatching -orphanet.ordo:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching -orphanet.ordo:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0684337 semapv:UnspecifiedMatching -orphanet.ordo:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching -orphanet.ordo:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 semapv:UnspecifiedMatching -orphanet.ordo:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref UMLS:C0342288 semapv:UnspecifiedMatching -orphanet.ordo:370921 STT3A-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:370921 STT3A-CDG oboInOwl:hasDbXref OMIM:615596 semapv:UnspecifiedMatching -orphanet.ordo:370924 STT3B-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:370924 STT3B-CDG oboInOwl:hasDbXref OMIM:615597 semapv:UnspecifiedMatching -orphanet.ordo:370924 STT3B-CDG oboInOwl:hasDbXref UMLS:C2931007 semapv:UnspecifiedMatching -orphanet.ordo:370927 SSR4-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:370927 SSR4-CDG oboInOwl:hasDbXref OMIM:300934 semapv:UnspecifiedMatching -orphanet.ordo:370930 XYLT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:370933 GM3 synthase deficiency oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching -orphanet.ordo:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:615553 semapv:UnspecifiedMatching -orphanet.ordo:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching -orphanet.ordo:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613151 semapv:UnspecifiedMatching -orphanet.ordo:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching -orphanet.ordo:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613156 semapv:UnspecifiedMatching -orphanet.ordo:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:615351 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613156 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:615351 semapv:UnspecifiedMatching -orphanet.ordo:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:618992 semapv:UnspecifiedMatching -orphanet.ordo:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching -orphanet.ordo:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:613152 semapv:UnspecifiedMatching -orphanet.ordo:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref OMIM:616538 semapv:UnspecifiedMatching -orphanet.ordo:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref MedDRA:10053241 semapv:UnspecifiedMatching -orphanet.ordo:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref OMIM:232800 semapv:UnspecifiedMatching -orphanet.ordo:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref UMLS:C0017926 semapv:UnspecifiedMatching -orphanet.ordo:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:371024 Qualitative or quantitative defects of alpha-dystroglycan oboInOwl:hasDbXref UMLS:C2936406 semapv:UnspecifiedMatching -orphanet.ordo:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:615419 semapv:UnspecifiedMatching -orphanet.ordo:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:616801 semapv:UnspecifiedMatching -orphanet.ordo:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:259600 semapv:UnspecifiedMatching -orphanet.ordo:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:277950 semapv:UnspecifiedMatching -orphanet.ordo:37202 Interstitial cystitis oboInOwl:hasDbXref ICD10:N30.1 semapv:UnspecifiedMatching -orphanet.ordo:37202 Interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching -orphanet.ordo:37202 Interstitial cystitis oboInOwl:hasDbXref MeSH:D018856 semapv:UnspecifiedMatching -orphanet.ordo:37202 Interstitial cystitis oboInOwl:hasDbXref MedDRA:10011796 semapv:UnspecifiedMatching -orphanet.ordo:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C0282488 semapv:UnspecifiedMatching -orphanet.ordo:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MESH:C537340 semapv:UnspecifiedMatching -orphanet.ordo:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MeSH:C537340 semapv:UnspecifiedMatching -orphanet.ordo:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching -orphanet.ordo:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref UMLS:C0796154 semapv:UnspecifiedMatching -orphanet.ordo:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:374 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching -orphanet.ordo:374 Goldenhar syndrome oboInOwl:hasDbXref MeSH:D006053 semapv:UnspecifiedMatching -orphanet.ordo:374 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching -orphanet.ordo:374 Goldenhar syndrome oboInOwl:hasDbXref UMLS:C0265240 semapv:UnspecifiedMatching -orphanet.ordo:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:M31.0+ semapv:UnspecifiedMatching -orphanet.ordo:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:N08.5* semapv:UnspecifiedMatching -orphanet.ordo:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref MedDRA:10018620 semapv:UnspecifiedMatching -orphanet.ordo:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref OMIM:233450 semapv:UnspecifiedMatching -orphanet.ordo:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref UMLS:C0403529 semapv:UnspecifiedMatching -orphanet.ordo:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref OMIM:170390 semapv:UnspecifiedMatching -orphanet.ordo:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS:C1563715 semapv:UnspecifiedMatching -orphanet.ordo:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:376 Gordon syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:376 Gordon syndrome oboInOwl:hasDbXref MESH:C537288 semapv:UnspecifiedMatching -orphanet.ordo:376 Gordon syndrome oboInOwl:hasDbXref MeSH:C537288 semapv:UnspecifiedMatching -orphanet.ordo:376 Gordon syndrome oboInOwl:hasDbXref OMIM:114300 semapv:UnspecifiedMatching -orphanet.ordo:376 Gordon syndrome oboInOwl:hasDbXref UMLS:C0220666 semapv:UnspecifiedMatching -orphanet.ordo:37612 Episodic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:37612 Episodic ataxia type 1 oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching -orphanet.ordo:37612 Episodic ataxia type 1 oboInOwl:hasDbXref UMLS:C1719788 semapv:UnspecifiedMatching -orphanet.ordo:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:37629 Neonatal neutropenia oboInOwl:hasDbXref MedDRA:10029358 semapv:UnspecifiedMatching -orphanet.ordo:37629 Neonatal neutropenia oboInOwl:hasDbXref UMLS:C0543693 semapv:UnspecifiedMatching -orphanet.ordo:377 Gorlin syndrome oboInOwl:hasDbXref ICD10:C44.9 semapv:UnspecifiedMatching -orphanet.ordo:377 Gorlin syndrome oboInOwl:hasDbXref MedDRA:10062804 semapv:UnspecifiedMatching -orphanet.ordo:377 Gorlin syndrome oboInOwl:hasDbXref OMIM:109400 semapv:UnspecifiedMatching -orphanet.ordo:377 Gorlin syndrome oboInOwl:hasDbXref UMLS:C0004779 semapv:UnspecifiedMatching -orphanet.ordo:37748 Schnitzler syndrome oboInOwl:hasDbXref ICD10:L50.8 semapv:UnspecifiedMatching -orphanet.ordo:37748 Schnitzler syndrome oboInOwl:hasDbXref MESH:D019873 semapv:UnspecifiedMatching -orphanet.ordo:37748 Schnitzler syndrome oboInOwl:hasDbXref MeSH:D019873 semapv:UnspecifiedMatching -orphanet.ordo:37748 Schnitzler syndrome oboInOwl:hasDbXref MedDRA:10062908 semapv:UnspecifiedMatching -orphanet.ordo:37748 Schnitzler syndrome oboInOwl:hasDbXref UMLS:C0524988 semapv:UnspecifiedMatching -orphanet.ordo:378 NON RARE IN EUROPE: Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref MeSH:D006105 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref MedDRA:10008906 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233690 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233700 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233710 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:306400 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:613960 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:618935 semapv:UnspecifiedMatching -orphanet.ordo:379 Chronic granulomatous disease oboInOwl:hasDbXref UMLS:C0018203 semapv:UnspecifiedMatching -orphanet.ordo:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref MESH:C535653 semapv:UnspecifiedMatching -orphanet.ordo:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref MeSH:C535653 semapv:UnspecifiedMatching -orphanet.ordo:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref OMIM:101850 semapv:UnspecifiedMatching -orphanet.ordo:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref UMLS:C0545044 semapv:UnspecifiedMatching -orphanet.ordo:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MESH:C537300 semapv:UnspecifiedMatching -orphanet.ordo:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MeSH:C537300 semapv:UnspecifiedMatching -orphanet.ordo:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MedDRA:10053878 semapv:UnspecifiedMatching -orphanet.ordo:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref OMIM:175700 semapv:UnspecifiedMatching -orphanet.ordo:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS:C0265306 semapv:UnspecifiedMatching -orphanet.ordo:381 Griscelli syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching -orphanet.ordo:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching -orphanet.ordo:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching -orphanet.ordo:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref MESH:C537622 semapv:UnspecifiedMatching -orphanet.ordo:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref MeSH:C537622 semapv:UnspecifiedMatching -orphanet.ordo:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref OMIM:612736 semapv:UnspecifiedMatching -orphanet.ordo:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref UMLS:C0574080 semapv:UnspecifiedMatching -orphanet.ordo:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching -orphanet.ordo:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref UMLS:C1844678 semapv:UnspecifiedMatching -orphanet.ordo:384 Huriez syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:384 Huriez syndrome oboInOwl:hasDbXref OMIM:181600 semapv:UnspecifiedMatching -orphanet.ordo:384 Huriez syndrome oboInOwl:hasDbXref UMLS:C0406767 semapv:UnspecifiedMatching -orphanet.ordo:385 Neurodegeneration with brain iron accumulation oboInOwl:hasDbXref MESH:C538421 semapv:UnspecifiedMatching -orphanet.ordo:385 Neurodegeneration with brain iron accumulation oboInOwl:hasDbXref MeSH:C538421 semapv:UnspecifiedMatching -orphanet.ordo:385 Neurodegeneration with brain iron accumulation oboInOwl:hasDbXref UMLS:C2931845 semapv:UnspecifiedMatching -orphanet.ordo:386 Hepatic cystic hamartoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching -orphanet.ordo:386 Hepatic cystic hamartoma oboInOwl:hasDbXref UMLS:C0334091 semapv:UnspecifiedMatching -orphanet.ordo:387 NON RARE IN EUROPE: Hidradenitis suppurativa oboInOwl:hasDbXref ICD10:L73.2 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref MeSH:D006627 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref MedDRA:10010539 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:142623 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:600155 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:600156 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:606874 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:606875 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:608462 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:611644 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:613711 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:613712 semapv:UnspecifiedMatching -orphanet.ordo:388 Hirschsprung disease oboInOwl:hasDbXref UMLS:C0019569 semapv:UnspecifiedMatching -orphanet.ordo:38874 Dihydropyrimidinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:38874 Dihydropyrimidinuria oboInOwl:hasDbXref OMIM:222748 semapv:UnspecifiedMatching -orphanet.ordo:38874 Dihydropyrimidinuria oboInOwl:hasDbXref UMLS:C3495551 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.0 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.5 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.6 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D006646 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MeSH:D006646 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MedDRA:10069698 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching -orphanet.ordo:389 Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019621 semapv:UnspecifiedMatching -orphanet.ordo:39 Acromelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching -orphanet.ordo:39 Acromelanosis oboInOwl:hasDbXref UMLS:C0406779 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.0 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.1 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.2 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.3 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.4 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.5 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.9 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref MeSH:D006660 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref MedDRA:10020141 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref MedDRA:10021808 semapv:UnspecifiedMatching -orphanet.ordo:390 Histoplasmosis oboInOwl:hasDbXref UMLS:C0019655 semapv:UnspecifiedMatching -orphanet.ordo:39041 Omenn syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:39041 Omenn syndrome oboInOwl:hasDbXref MedDRA:10069097 semapv:UnspecifiedMatching -orphanet.ordo:39041 Omenn syndrome oboInOwl:hasDbXref OMIM:603554 semapv:UnspecifiedMatching -orphanet.ordo:39041 Omenn syndrome oboInOwl:hasDbXref UMLS:C2700553 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref ICD10:C69.3 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref MESH:C536494 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref MeSH:C536494 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref MedDRA:10061252 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:155720 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:606660 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:606661 semapv:UnspecifiedMatching -orphanet.ordo:39044 Uveal melanoma oboInOwl:hasDbXref UMLS:C0220633 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.9 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:236000 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:300221 semapv:UnspecifiedMatching -orphanet.ordo:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:400021 semapv:UnspecifiedMatching -orphanet.ordo:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615541 semapv:UnspecifiedMatching -orphanet.ordo:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching -orphanet.ordo:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching -orphanet.ordo:391320 East Texas bleeding disorder oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:391320 East Texas bleeding disorder oboInOwl:hasDbXref OMIM:605913 semapv:UnspecifiedMatching -orphanet.ordo:391320 East Texas bleeding disorder oboInOwl:hasDbXref UMLS:C1853831 semapv:UnspecifiedMatching -orphanet.ordo:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching -orphanet.ordo:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref OMIM:302030 semapv:UnspecifiedMatching -orphanet.ordo:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref ICD10:M80.5 semapv:UnspecifiedMatching -orphanet.ordo:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref OMIM:300910 semapv:UnspecifiedMatching -orphanet.ordo:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:615578 semapv:UnspecifiedMatching -orphanet.ordo:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:616684 semapv:UnspecifiedMatching -orphanet.ordo:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome oboInOwl:hasDbXref ICD10:K73.8 semapv:UnspecifiedMatching -orphanet.ordo:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref OMIM:613670 semapv:UnspecifiedMatching -orphanet.ordo:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:615574 semapv:UnspecifiedMatching -orphanet.ordo:391384 Familial episodic pain syndrome oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching -orphanet.ordo:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching -orphanet.ordo:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching -orphanet.ordo:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching -orphanet.ordo:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching -orphanet.ordo:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching -orphanet.ordo:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching -orphanet.ordo:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref OMIM:615548 semapv:UnspecifiedMatching -orphanet.ordo:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616033 semapv:UnspecifiedMatching -orphanet.ordo:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616817 semapv:UnspecifiedMatching -orphanet.ordo:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching -orphanet.ordo:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615530 semapv:UnspecifiedMatching -orphanet.ordo:391417 HSD10 disease oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:391417 HSD10 disease oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching -orphanet.ordo:391417 HSD10 disease oboInOwl:hasDbXref UMLS:C1845517 semapv:UnspecifiedMatching -orphanet.ordo:391428 HSD10 disease, infantile type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:391428 HSD10 disease, infantile type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching -orphanet.ordo:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching -orphanet.ordo:391474 Frontorhiny oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:391474 Frontorhiny oboInOwl:hasDbXref OMIM:136760 semapv:UnspecifiedMatching -orphanet.ordo:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching -orphanet.ordo:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching -orphanet.ordo:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching -orphanet.ordo:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching -orphanet.ordo:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref ICD10:P94.0 semapv:UnspecifiedMatching -orphanet.ordo:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref UMLS:C0495465 semapv:UnspecifiedMatching -orphanet.ordo:391641 Feingold syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:391641 Feingold syndrome type 1 oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching -orphanet.ordo:391646 Feingold syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:391646 Feingold syndrome type 2 oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching -orphanet.ordo:391651 Glomus tumor oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:391651 Glomus tumor oboInOwl:hasDbXref UMLS:C0017653 semapv:UnspecifiedMatching -orphanet.ordo:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching -orphanet.ordo:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching -orphanet.ordo:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:144010 semapv:UnspecifiedMatching -orphanet.ordo:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:602247 semapv:UnspecifiedMatching -orphanet.ordo:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:603813 semapv:UnspecifiedMatching -orphanet.ordo:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref UMLS:C0342881 semapv:UnspecifiedMatching -orphanet.ordo:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:UnspecifiedMatching -orphanet.ordo:391673 Necrotizing enterocolitis oboInOwl:hasDbXref UMLS:C0520459 semapv:UnspecifiedMatching -orphanet.ordo:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref OMIM:614800 semapv:UnspecifiedMatching -orphanet.ordo:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching -orphanet.ordo:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref UMLS:C1706832 semapv:UnspecifiedMatching -orphanet.ordo:392 Holt-Oram syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:392 Holt-Oram syndrome oboInOwl:hasDbXref MESH:C535326 semapv:UnspecifiedMatching -orphanet.ordo:392 Holt-Oram syndrome oboInOwl:hasDbXref MeSH:C535326 semapv:UnspecifiedMatching -orphanet.ordo:392 Holt-Oram syndrome oboInOwl:hasDbXref MedDRA:10050469 semapv:UnspecifiedMatching -orphanet.ordo:392 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching -orphanet.ordo:392 Holt-Oram syndrome oboInOwl:hasDbXref UMLS:C0265264 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref MESH:D058531 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref MeSH:D058531 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:278850 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:300833 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching -orphanet.ordo:393 46,XX testicular difference of sex development oboInOwl:hasDbXref UMLS:C2936419 semapv:UnspecifiedMatching -orphanet.ordo:394 Classic homocystinuria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:394 Classic homocystinuria oboInOwl:hasDbXref MedDRA:10071093 semapv:UnspecifiedMatching -orphanet.ordo:394 Classic homocystinuria oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching -orphanet.ordo:394 Classic homocystinuria oboInOwl:hasDbXref UMLS:C0751202 semapv:UnspecifiedMatching -orphanet.ordo:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching -orphanet.ordo:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:255100 semapv:UnspecifiedMatching -orphanet.ordo:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching -orphanet.ordo:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref OMIM:255100 semapv:UnspecifiedMatching -orphanet.ordo:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref OMIM:236250 semapv:UnspecifiedMatching -orphanet.ordo:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref UMLS:C1856061 semapv:UnspecifiedMatching -orphanet.ordo:396 Chronic hiccup oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref ICD10:M31.6 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref MeSH:D013700 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref MedDRA:10018250 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref MedDRA:10043207 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching -orphanet.ordo:397 Giant cell arteritis oboInOwl:hasDbXref UMLS:C0039483 semapv:UnspecifiedMatching -orphanet.ordo:397587 Deep dermatophytosis oboInOwl:hasDbXref ICD10:B35.8 semapv:UnspecifiedMatching -orphanet.ordo:397587 Deep dermatophytosis oboInOwl:hasDbXref UMLS:C1395264 semapv:UnspecifiedMatching -orphanet.ordo:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616489 semapv:UnspecifiedMatching -orphanet.ordo:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618907 semapv:UnspecifiedMatching -orphanet.ordo:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618908 semapv:UnspecifiedMatching -orphanet.ordo:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref OMIM:615595 semapv:UnspecifiedMatching -orphanet.ordo:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching -orphanet.ordo:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:616005 semapv:UnspecifiedMatching -orphanet.ordo:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref UMLS:C3714976 semapv:UnspecifiedMatching -orphanet.ordo:397606 PrP systemic amyloidosis oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q75.3 semapv:UnspecifiedMatching -orphanet.ordo:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref OMIM:615637 semapv:UnspecifiedMatching -orphanet.ordo:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref OMIM:615703 semapv:UnspecifiedMatching -orphanet.ordo:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref OMIM:609218 semapv:UnspecifiedMatching -orphanet.ordo:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:602471 semapv:UnspecifiedMatching -orphanet.ordo:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1865361 semapv:UnspecifiedMatching -orphanet.ordo:397685 Familial hyperprolactinemia oboInOwl:hasDbXref ICD10:E22.1 semapv:UnspecifiedMatching -orphanet.ordo:397685 Familial hyperprolactinemia oboInOwl:hasDbXref OMIM:615555 semapv:UnspecifiedMatching -orphanet.ordo:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching -orphanet.ordo:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome oboInOwl:hasDbXref OMIM:616354 semapv:UnspecifiedMatching -orphanet.ordo:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIM:615636 semapv:UnspecifiedMatching -orphanet.ordo:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIM:616546 semapv:UnspecifiedMatching -orphanet.ordo:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:615643 semapv:UnspecifiedMatching -orphanet.ordo:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref OMIM:616280 semapv:UnspecifiedMatching -orphanet.ordo:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref OMIM:614369 semapv:UnspecifiedMatching -orphanet.ordo:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref OMIM:616079 semapv:UnspecifiedMatching -orphanet.ordo:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref OMIM:615592 semapv:UnspecifiedMatching -orphanet.ordo:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref OMIM:618204 semapv:UnspecifiedMatching -orphanet.ordo:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -orphanet.ordo:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref OMIM:301072 semapv:UnspecifiedMatching -orphanet.ordo:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref OMIM:615709 semapv:UnspecifiedMatching -orphanet.ordo:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref OMIM:615895 semapv:UnspecifiedMatching -orphanet.ordo:397941 MAN1B1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref OMIM:611302 semapv:UnspecifiedMatching -orphanet.ordo:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615599 semapv:UnspecifiedMatching -orphanet.ordo:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching -orphanet.ordo:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref OMIM:615468 semapv:UnspecifiedMatching -orphanet.ordo:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 semapv:UnspecifiedMatching -orphanet.ordo:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref OMIM:606772 semapv:UnspecifiedMatching -orphanet.ordo:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref UMLS:C1847522 semapv:UnspecifiedMatching -orphanet.ordo:398043 Malignant tumor of penis oboInOwl:hasDbXref ICD10:C60 semapv:UnspecifiedMatching -orphanet.ordo:398043 Malignant tumor of penis oboInOwl:hasDbXref UMLS:C0153601 semapv:UnspecifiedMatching -orphanet.ordo:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching -orphanet.ordo:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semapv:UnspecifiedMatching -orphanet.ordo:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching -orphanet.ordo:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching -orphanet.ordo:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching -orphanet.ordo:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching -orphanet.ordo:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semapv:UnspecifiedMatching -orphanet.ordo:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching -orphanet.ordo:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching -orphanet.ordo:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching -orphanet.ordo:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref UMLS:C0238348 semapv:UnspecifiedMatching -orphanet.ordo:398063 Refractory celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching -orphanet.ordo:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching -orphanet.ordo:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref OMIM:185020 semapv:UnspecifiedMatching -orphanet.ordo:398097 Neonatal antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching -orphanet.ordo:398109 Neonatal autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching -orphanet.ordo:398117 Neonatal dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching -orphanet.ordo:39812 Graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching -orphanet.ordo:39812 Graft versus host disease oboInOwl:hasDbXref MedDRA:10018651 semapv:UnspecifiedMatching -orphanet.ordo:39812 Graft versus host disease oboInOwl:hasDbXref OMIM:614395 semapv:UnspecifiedMatching -orphanet.ordo:39812 Graft versus host disease oboInOwl:hasDbXref UMLS:C0018133 semapv:UnspecifiedMatching -orphanet.ordo:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching -orphanet.ordo:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref UMLS:C0409979 semapv:UnspecifiedMatching -orphanet.ordo:398127 Neonatal scleroderma oboInOwl:hasDbXref ICD10:P83.8 semapv:UnspecifiedMatching -orphanet.ordo:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref ICD10:G50.1 semapv:UnspecifiedMatching -orphanet.ordo:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref OMIM:601452 semapv:UnspecifiedMatching -orphanet.ordo:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref UMLS:C1832352 semapv:UnspecifiedMatching -orphanet.ordo:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:136500 semapv:UnspecifiedMatching -orphanet.ordo:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:227260 semapv:UnspecifiedMatching -orphanet.ordo:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:614973 semapv:UnspecifiedMatching -orphanet.ordo:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:614974 semapv:UnspecifiedMatching -orphanet.ordo:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref UMLS:C2936827 semapv:UnspecifiedMatching -orphanet.ordo:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref OMIM:614973 semapv:UnspecifiedMatching -orphanet.ordo:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref UMLS:C1744559 semapv:UnspecifiedMatching -orphanet.ordo:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref OMIM:614974 semapv:UnspecifiedMatching -orphanet.ordo:398934 Malignant epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C0677886 semapv:UnspecifiedMatching -orphanet.ordo:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:398987 Malignant teratoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:399 Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:399 Huntington disease oboInOwl:hasDbXref MESH:D006816 semapv:UnspecifiedMatching -orphanet.ordo:399 Huntington disease oboInOwl:hasDbXref MeSH:D006816 semapv:UnspecifiedMatching -orphanet.ordo:399 Huntington disease oboInOwl:hasDbXref MedDRA:10070668 semapv:UnspecifiedMatching -orphanet.ordo:399 Huntington disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching -orphanet.ordo:399 Huntington disease oboInOwl:hasDbXref UMLS:C0020179 semapv:UnspecifiedMatching -orphanet.ordo:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref OMIM:608810 semapv:UnspecifiedMatching -orphanet.ordo:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref OMIM:610099 semapv:UnspecifiedMatching -orphanet.ordo:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref UMLS:C1864706 semapv:UnspecifiedMatching -orphanet.ordo:399096 Distal anoctaminopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:399096 Distal anoctaminopathy oboInOwl:hasDbXref OMIM:613319 semapv:UnspecifiedMatching -orphanet.ordo:399096 Distal anoctaminopathy oboInOwl:hasDbXref UMLS:C2750076 semapv:UnspecifiedMatching -orphanet.ordo:399103 Distal nebulin myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:399158 Osteonecrosis oboInOwl:hasDbXref ICD10:M87 semapv:UnspecifiedMatching -orphanet.ordo:399158 Osteonecrosis oboInOwl:hasDbXref UMLS:C0029445 semapv:UnspecifiedMatching -orphanet.ordo:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 semapv:UnspecifiedMatching -orphanet.ordo:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.1 semapv:UnspecifiedMatching -orphanet.ordo:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.3 semapv:UnspecifiedMatching -orphanet.ordo:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching -orphanet.ordo:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref UMLS:C2711248 semapv:UnspecifiedMatching -orphanet.ordo:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 semapv:UnspecifiedMatching -orphanet.ordo:399319 Osteochondrosis oboInOwl:hasDbXref UMLS:C0029429 semapv:UnspecifiedMatching -orphanet.ordo:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:108420 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:258150 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:270960 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:305700 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:309120 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:399805 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:613957 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615081 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615413 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615841 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615842 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:616950 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617706 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617707 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617960 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618086 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618110 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618115 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619108 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619202 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619379 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619380 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619515 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619528 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619585 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619645 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619646 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619672 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619673 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619689 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619696 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619712 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619799 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619803 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619805 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619826 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619828 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619867 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619878 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619937 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619949 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620084 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620103 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620170 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620196 semapv:UnspecifiedMatching -orphanet.ordo:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620222 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:102530 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:243060 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:301059 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615413 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619044 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619094 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619095 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619102 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619144 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619145 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619177 semapv:UnspecifiedMatching -orphanet.ordo:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619258 semapv:UnspecifiedMatching -orphanet.ordo:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref MESH:C535661 semapv:UnspecifiedMatching -orphanet.ordo:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref MeSH:C535661 semapv:UnspecifiedMatching -orphanet.ordo:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:602875 semapv:UnspecifiedMatching -orphanet.ordo:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C1864356 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.0 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.1 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.2 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.3 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.4 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.7 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.8 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.9 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref MESH:D004443 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref MeSH:D004443 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref MedDRA:10014096 semapv:UnspecifiedMatching -orphanet.ordo:400 Cystic echinococcosis oboInOwl:hasDbXref UMLS:C0013502 semapv:UnspecifiedMatching -orphanet.ordo:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching -orphanet.ordo:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:M07.3 semapv:UnspecifiedMatching -orphanet.ordo:401 Hymenolepiasis oboInOwl:hasDbXref ICD10:B71.0 semapv:UnspecifiedMatching -orphanet.ordo:401 Hymenolepiasis oboInOwl:hasDbXref MESH:D006925 semapv:UnspecifiedMatching -orphanet.ordo:401 Hymenolepiasis oboInOwl:hasDbXref MeSH:D006925 semapv:UnspecifiedMatching -orphanet.ordo:401 Hymenolepiasis oboInOwl:hasDbXref MedDRA:10020546 semapv:UnspecifiedMatching -orphanet.ordo:401 Hymenolepiasis oboInOwl:hasDbXref UMLS:C0020413 semapv:UnspecifiedMatching -orphanet.ordo:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref OMIM:615715 semapv:UnspecifiedMatching -orphanet.ordo:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref OMIM:615673 semapv:UnspecifiedMatching -orphanet.ordo:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615722 semapv:UnspecifiedMatching -orphanet.ordo:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref OMIM:615685 semapv:UnspecifiedMatching -orphanet.ordo:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref OMIM:615681 semapv:UnspecifiedMatching -orphanet.ordo:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref OMIM:615686 semapv:UnspecifiedMatching -orphanet.ordo:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref OMIM:615683 semapv:UnspecifiedMatching -orphanet.ordo:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401825 Autosomal recessive spastic paraplegia type 68 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching -orphanet.ordo:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching -orphanet.ordo:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref OMIM:614462 semapv:UnspecifiedMatching -orphanet.ordo:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref OMIM:616299 semapv:UnspecifiedMatching -orphanet.ordo:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref OMIM:616859 semapv:UnspecifiedMatching -orphanet.ordo:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref OMIM:605711 semapv:UnspecifiedMatching -orphanet.ordo:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref OMIM:614299 semapv:UnspecifiedMatching -orphanet.ordo:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0334287 semapv:UnspecifiedMatching -orphanet.ordo:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching -orphanet.ordo:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref OMIM:615892 semapv:UnspecifiedMatching -orphanet.ordo:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching -orphanet.ordo:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref OMIM:615750 semapv:UnspecifiedMatching -orphanet.ordo:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref OMIM:615751 semapv:UnspecifiedMatching -orphanet.ordo:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref OMIM:616055 semapv:UnspecifiedMatching -orphanet.ordo:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref OMIM:610100 semapv:UnspecifiedMatching -orphanet.ordo:401973 MEND syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:401973 MEND syndrome oboInOwl:hasDbXref OMIM:300960 semapv:UnspecifiedMatching -orphanet.ordo:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref OMIM:613320 semapv:UnspecifiedMatching -orphanet.ordo:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref UMLS:C2750075 semapv:UnspecifiedMatching -orphanet.ordo:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref OMIM:613735 semapv:UnspecifiedMatching -orphanet.ordo:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching -orphanet.ordo:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref OMIM:614817 semapv:UnspecifiedMatching -orphanet.ordo:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching -orphanet.ordo:402007 Lichen myxedematosus oboInOwl:hasDbXref UMLS:C0263390 semapv:UnspecifiedMatching -orphanet.ordo:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:402017 Acute myeloid leukemia with t(9;11)(p22;q23) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -orphanet.ordo:402026 Acute myeloid leukemia with NPM1 somatic mutations oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:402035 Eosinophilic colitis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:402035 Eosinophilic colitis oboInOwl:hasDbXref UMLS:C0267448 semapv:UnspecifiedMatching -orphanet.ordo:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref OMIM:267300 semapv:UnspecifiedMatching -orphanet.ordo:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching -orphanet.ordo:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1864498 semapv:UnspecifiedMatching -orphanet.ordo:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching -orphanet.ordo:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref OMIM:109730 semapv:UnspecifiedMatching -orphanet.ordo:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref OMIM:614823 semapv:UnspecifiedMatching -orphanet.ordo:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching -orphanet.ordo:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref OMIM:613668 semapv:UnspecifiedMatching -orphanet.ordo:402823 Hepatitis delta oboInOwl:hasDbXref ICD10:B17.0 semapv:UnspecifiedMatching -orphanet.ordo:402823 Hepatitis delta oboInOwl:hasDbXref UMLS:C0011226 semapv:UnspecifiedMatching -orphanet.ordo:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching -orphanet.ordo:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching -orphanet.ordo:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref UMLS:C1260386 semapv:UnspecifiedMatching -orphanet.ordo:40366 Acitretin/etretinate embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching -orphanet.ordo:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching -orphanet.ordo:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching -orphanet.ordo:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref UMLS:C1854107 semapv:UnspecifiedMatching -orphanet.ordo:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching -orphanet.ordo:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref OMIM:615760 semapv:UnspecifiedMatching -orphanet.ordo:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref OMIM:615761 semapv:UnspecifiedMatching -orphanet.ordo:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref OMIM:615879 semapv:UnspecifiedMatching -orphanet.ordo:404448 ADNP syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:404448 ADNP syndrome oboInOwl:hasDbXref OMIM:615873 semapv:UnspecifiedMatching -orphanet.ordo:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref OMIM:615273 semapv:UnspecifiedMatching -orphanet.ordo:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching -orphanet.ordo:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref OMIM:613834 semapv:UnspecifiedMatching -orphanet.ordo:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching -orphanet.ordo:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:615774 semapv:UnspecifiedMatching -orphanet.ordo:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:617712 semapv:UnspecifiedMatching -orphanet.ordo:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:618353 semapv:UnspecifiedMatching -orphanet.ordo:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref ICD10:G80.1 semapv:UnspecifiedMatching -orphanet.ordo:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref OMIM:615075 semapv:UnspecifiedMatching -orphanet.ordo:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref OMIM:618272 semapv:UnspecifiedMatching -orphanet.ordo:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref OMIM:616949 semapv:UnspecifiedMatching -orphanet.ordo:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref OMIM:615705 semapv:UnspecifiedMatching -orphanet.ordo:404507 Chondromyxoid fibroma oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching -orphanet.ordo:404507 Chondromyxoid fibroma oboInOwl:hasDbXref UMLS:C0221290 semapv:UnspecifiedMatching -orphanet.ordo:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:404514 Acquired cystic disease-associated renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:404521 Spinal muscular atrophy with respiratory distress type 2 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching -orphanet.ordo:404546 DITRA oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching -orphanet.ordo:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching -orphanet.ordo:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref OMIM:615688 semapv:UnspecifiedMatching -orphanet.ordo:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching -orphanet.ordo:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:155600 semapv:UnspecifiedMatching -orphanet.ordo:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:606719 semapv:UnspecifiedMatching -orphanet.ordo:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref UMLS:C2314896 semapv:UnspecifiedMatching -orphanet.ordo:404580 Polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0409667 semapv:UnspecifiedMatching -orphanet.ordo:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching -orphanet.ordo:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching -orphanet.ordo:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching -orphanet.ordo:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref UMLS:C1809471 semapv:UnspecifiedMatching -orphanet.ordo:406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching -orphanet.ordo:407 Glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:407 Glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching -orphanet.ordo:407 Glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 semapv:UnspecifiedMatching -orphanet.ordo:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref MESH:C538138 semapv:UnspecifiedMatching -orphanet.ordo:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref MeSH:C538138 semapv:UnspecifiedMatching -orphanet.ordo:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching -orphanet.ordo:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0574108 semapv:UnspecifiedMatching -orphanet.ordo:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MESH:C538377 semapv:UnspecifiedMatching -orphanet.ordo:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MeSH:C538377 semapv:UnspecifiedMatching -orphanet.ordo:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MedDRA:10071311 semapv:UnspecifiedMatching -orphanet.ordo:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref OMIM:144150 semapv:UnspecifiedMatching -orphanet.ordo:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref UMLS:C0263420 semapv:UnspecifiedMatching -orphanet.ordo:40923 Eales disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:40923 Eales disease oboInOwl:hasDbXref MESH:C538011 semapv:UnspecifiedMatching -orphanet.ordo:40923 Eales disease oboInOwl:hasDbXref MeSH:C538011 semapv:UnspecifiedMatching -orphanet.ordo:40923 Eales disease oboInOwl:hasDbXref MedDRA:10057429 semapv:UnspecifiedMatching -orphanet.ordo:40923 Eales disease oboInOwl:hasDbXref UMLS:C0271073 semapv:UnspecifiedMatching -orphanet.ordo:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching -orphanet.ordo:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MESH:C535729 semapv:UnspecifiedMatching -orphanet.ordo:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MeSH:C535729 semapv:UnspecifiedMatching -orphanet.ordo:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref OMIM:127400 semapv:UnspecifiedMatching -orphanet.ordo:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS:C0406775 semapv:UnspecifiedMatching -orphanet.ordo:411 Hyperlipoproteinemia type 1 oboInOwl:hasDbXref UMLS:C0023817 semapv:UnspecifiedMatching -orphanet.ordo:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref OMIM:615803 semapv:UnspecifiedMatching -orphanet.ordo:411501 Williams-Campbell syndrome oboInOwl:hasDbXref ICD10:Q33.4 semapv:UnspecifiedMatching -orphanet.ordo:411501 Williams-Campbell syndrome oboInOwl:hasDbXref UMLS:C0340231 semapv:UnspecifiedMatching -orphanet.ordo:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:411527 Central retinal vein occlusion oboInOwl:hasDbXref ICD10:H34.8 semapv:UnspecifiedMatching -orphanet.ordo:411527 Central retinal vein occlusion oboInOwl:hasDbXref UMLS:C0154841 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching -orphanet.ordo:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching -orphanet.ordo:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching -orphanet.ordo:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching -orphanet.ordo:411590 Wolfram-like syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:411590 Wolfram-like syndrome oboInOwl:hasDbXref OMIM:614296 semapv:UnspecifiedMatching -orphanet.ordo:411590 Wolfram-like syndrome oboInOwl:hasDbXref UMLS:C3280358 semapv:UnspecifiedMatching -orphanet.ordo:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref UMLS:C0854359 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:605543 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607060 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607688 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:614203 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:614251 semapv:UnspecifiedMatching -orphanet.ordo:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:616361 semapv:UnspecifiedMatching -orphanet.ordo:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching -orphanet.ordo:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching -orphanet.ordo:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching -orphanet.ordo:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref UMLS:C3537440 semapv:UnspecifiedMatching -orphanet.ordo:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching -orphanet.ordo:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching -orphanet.ordo:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching -orphanet.ordo:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref UMLS:C0268626 semapv:UnspecifiedMatching -orphanet.ordo:411641 Ocular cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:411641 Ocular cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching -orphanet.ordo:411641 Ocular cystinosis oboInOwl:hasDbXref UMLS:C2931013 semapv:UnspecifiedMatching -orphanet.ordo:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching -orphanet.ordo:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref ICD10:A31.0 semapv:UnspecifiedMatching -orphanet.ordo:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching -orphanet.ordo:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching -orphanet.ordo:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.2 semapv:UnspecifiedMatching -orphanet.ordo:411709 Renal agenesis oboInOwl:hasDbXref OMIM:191830 semapv:UnspecifiedMatching -orphanet.ordo:411709 Renal agenesis oboInOwl:hasDbXref OMIM:615721 semapv:UnspecifiedMatching -orphanet.ordo:411709 Renal agenesis oboInOwl:hasDbXref UMLS:C0542519 semapv:UnspecifiedMatching -orphanet.ordo:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching -orphanet.ordo:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref OMIM:615026 semapv:UnspecifiedMatching -orphanet.ordo:411777 Generalized eruptive keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching -orphanet.ordo:411788 Familial isolated trichomegaly oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching -orphanet.ordo:411788 Familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching -orphanet.ordo:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615859 semapv:UnspecifiedMatching -orphanet.ordo:412 Dysbetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.2 semapv:UnspecifiedMatching -orphanet.ordo:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MESH:D006952 semapv:UnspecifiedMatching -orphanet.ordo:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MeSH:D006952 semapv:UnspecifiedMatching -orphanet.ordo:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MedDRA:10060751 semapv:UnspecifiedMatching -orphanet.ordo:412 Dysbetalipoproteinemia oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching -orphanet.ordo:412 Dysbetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020479 semapv:UnspecifiedMatching -orphanet.ordo:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref OMIM:601552 semapv:UnspecifiedMatching -orphanet.ordo:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref UMLS:C1832167 semapv:UnspecifiedMatching -orphanet.ordo:412035 13q12.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref OMIM:615768 semapv:UnspecifiedMatching -orphanet.ordo:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome oboInOwl:hasDbXref OMIM:615829 semapv:UnspecifiedMatching -orphanet.ordo:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref OMIM:615425 semapv:UnspecifiedMatching -orphanet.ordo:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref OMIM:615028 semapv:UnspecifiedMatching -orphanet.ordo:412206 Primary failure of tooth eruption oboInOwl:hasDbXref ICD10:K00.8 semapv:UnspecifiedMatching -orphanet.ordo:412206 Primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 semapv:UnspecifiedMatching -orphanet.ordo:412206 Primary failure of tooth eruption oboInOwl:hasDbXref UMLS:C1852222 semapv:UnspecifiedMatching -orphanet.ordo:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 oboInOwl:hasDbXref ICD10:E78.1 semapv:UnspecifiedMatching -orphanet.ordo:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching -orphanet.ordo:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref MESH:C537132 semapv:UnspecifiedMatching -orphanet.ordo:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref MeSH:C537132 semapv:UnspecifiedMatching -orphanet.ordo:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching -orphanet.ordo:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref UMLS:C0018425 semapv:UnspecifiedMatching -orphanet.ordo:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching -orphanet.ordo:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref OMIM:238970 semapv:UnspecifiedMatching -orphanet.ordo:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref UMLS:C0268540 semapv:UnspecifiedMatching -orphanet.ordo:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching -orphanet.ordo:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:415286 Bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57 semapv:UnspecifiedMatching -orphanet.ordo:415286 Bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C0022610 semapv:UnspecifiedMatching -orphanet.ordo:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching -orphanet.ordo:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching -orphanet.ordo:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.9 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref MESH:D006959 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref MeSH:D006959 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref MedDRA:10020703 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching -orphanet.ordo:416 Primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020501 semapv:UnspecifiedMatching -orphanet.ordo:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching -orphanet.ordo:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:239200 semapv:UnspecifiedMatching -orphanet.ordo:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:618188 semapv:UnspecifiedMatching -orphanet.ordo:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C1832615 semapv:UnspecifiedMatching -orphanet.ordo:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref MESH:C535440 semapv:UnspecifiedMatching -orphanet.ordo:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref MeSH:C535440 semapv:UnspecifiedMatching -orphanet.ordo:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref OMIM:210370 semapv:UnspecifiedMatching -orphanet.ordo:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref UMLS:C1859486 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref MESH:D000312 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref MeSH:D000312 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref MedDRA:10010323 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201710 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201810 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202010 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching -orphanet.ordo:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref UMLS:C0001627 semapv:UnspecifiedMatching -orphanet.ordo:41842 NON RARE IN EUROPE: Fibromyalgia oboInOwl:hasDbXref ICD10:M79.7 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching -orphanet.ordo:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching -orphanet.ordo:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching -orphanet.ordo:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching -orphanet.ordo:419 Hyperprolinemia type 1 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:419 Hyperprolinemia type 1 oboInOwl:hasDbXref MedDRA:10058513 semapv:UnspecifiedMatching -orphanet.ordo:419 Hyperprolinemia type 1 oboInOwl:hasDbXref OMIM:239500 semapv:UnspecifiedMatching -orphanet.ordo:419 Hyperprolinemia type 1 oboInOwl:hasDbXref UMLS:C0268529 semapv:UnspecifiedMatching -orphanet.ordo:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536038 semapv:UnspecifiedMatching -orphanet.ordo:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MeSH:C536038 semapv:UnspecifiedMatching -orphanet.ordo:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 semapv:UnspecifiedMatching -orphanet.ordo:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220710 semapv:UnspecifiedMatching -orphanet.ordo:420179 Malan overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:420179 Malan overgrowth syndrome oboInOwl:hasDbXref OMIM:614753 semapv:UnspecifiedMatching -orphanet.ordo:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref ICD10:H83.8 semapv:UnspecifiedMatching -orphanet.ordo:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref UMLS:C3888925 semapv:UnspecifiedMatching -orphanet.ordo:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref OMIM:615034 semapv:UnspecifiedMatching -orphanet.ordo:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref OMIM:614860 semapv:UnspecifiedMatching -orphanet.ordo:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching -orphanet.ordo:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref OMIM:611816 semapv:UnspecifiedMatching -orphanet.ordo:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2678486 semapv:UnspecifiedMatching -orphanet.ordo:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref OMIM:615888 semapv:UnspecifiedMatching -orphanet.ordo:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref OMIM:615897 semapv:UnspecifiedMatching -orphanet.ordo:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615849 semapv:UnspecifiedMatching -orphanet.ordo:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref OMIM:159595 semapv:UnspecifiedMatching -orphanet.ordo:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref UMLS:C1834582 semapv:UnspecifiedMatching -orphanet.ordo:42062 Iminoglycinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:42062 Iminoglycinuria oboInOwl:hasDbXref MESH:C536285 semapv:UnspecifiedMatching -orphanet.ordo:42062 Iminoglycinuria oboInOwl:hasDbXref MeSH:C536285 semapv:UnspecifiedMatching -orphanet.ordo:42062 Iminoglycinuria oboInOwl:hasDbXref OMIM:242600 semapv:UnspecifiedMatching -orphanet.ordo:42062 Iminoglycinuria oboInOwl:hasDbXref UMLS:C0268654 semapv:UnspecifiedMatching -orphanet.ordo:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:616099 semapv:UnspecifiedMatching -orphanet.ordo:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref OMIM:617014 semapv:UnspecifiedMatching -orphanet.ordo:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref OMIM:615917 semapv:UnspecifiedMatching -orphanet.ordo:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref OMIM:615918 semapv:UnspecifiedMatching -orphanet.ordo:420741 RIDDLE syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:420741 RIDDLE syndrome oboInOwl:hasDbXref OMIM:611943 semapv:UnspecifiedMatching -orphanet.ordo:420741 RIDDLE syndrome oboInOwl:hasDbXref UMLS:C2677792 semapv:UnspecifiedMatching -orphanet.ordo:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:420794 Cono-spondylar dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching -orphanet.ordo:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching -orphanet.ordo:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:265400 semapv:UnspecifiedMatching -orphanet.ordo:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching -orphanet.ordo:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615343 semapv:UnspecifiedMatching -orphanet.ordo:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching -orphanet.ordo:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref OMIM:144700 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MESH:D008305 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MeSH:D008305 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MedDRA:10020844 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:145600 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:154275 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:154276 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:600467 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:601887 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:601888 semapv:UnspecifiedMatching -orphanet.ordo:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref UMLS:C0024591 semapv:UnspecifiedMatching -orphanet.ordo:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref OMIM:616053 semapv:UnspecifiedMatching -orphanet.ordo:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref OMIM:615957 semapv:UnspecifiedMatching -orphanet.ordo:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref OMIM:616022 semapv:UnspecifiedMatching -orphanet.ordo:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:616029 semapv:UnspecifiedMatching -orphanet.ordo:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching -orphanet.ordo:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching -orphanet.ordo:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching -orphanet.ordo:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching -orphanet.ordo:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref UMLS:C1854896 semapv:UnspecifiedMatching -orphanet.ordo:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:423662 Rare autonomic nervous system disorder oboInOwl:hasDbXref UMLS:C1145628 semapv:UnspecifiedMatching -orphanet.ordo:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -orphanet.ordo:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:423717 Cutaneous larva migrans oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching -orphanet.ordo:423717 Cutaneous larva migrans oboInOwl:hasDbXref UMLS:C0546999 semapv:UnspecifiedMatching -orphanet.ordo:423771 Rare carcinoma of stomach oboInOwl:hasDbXref UMLS:C0699791 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching -orphanet.ordo:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching -orphanet.ordo:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:423957 Rare carcinoma of small intestine oboInOwl:hasDbXref UMLS:C0238196 semapv:UnspecifiedMatching -orphanet.ordo:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching -orphanet.ordo:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching -orphanet.ordo:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching -orphanet.ordo:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching -orphanet.ordo:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.2 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.3 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.4 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.5 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching -orphanet.ordo:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.9 semapv:UnspecifiedMatching -orphanet.ordo:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching -orphanet.ordo:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref OMIM:609152 semapv:UnspecifiedMatching -orphanet.ordo:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching -orphanet.ordo:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref UMLS:C1335690 semapv:UnspecifiedMatching -orphanet.ordo:424013 Carcinoma of the anal canal oboInOwl:hasDbXref UMLS:C0563211 semapv:UnspecifiedMatching -orphanet.ordo:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching -orphanet.ordo:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching -orphanet.ordo:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref OMIM:616230 semapv:UnspecifiedMatching -orphanet.ordo:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching -orphanet.ordo:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching -orphanet.ordo:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching -orphanet.ordo:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching -orphanet.ordo:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching -orphanet.ordo:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching -orphanet.ordo:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref UMLS:C0279661 semapv:UnspecifiedMatching -orphanet.ordo:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching -orphanet.ordo:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching -orphanet.ordo:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching -orphanet.ordo:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref UMLS:C2063873 semapv:UnspecifiedMatching -orphanet.ordo:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching -orphanet.ordo:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335304 semapv:UnspecifiedMatching -orphanet.ordo:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching -orphanet.ordo:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching -orphanet.ordo:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching -orphanet.ordo:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching -orphanet.ordo:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching -orphanet.ordo:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching -orphanet.ordo:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335315 semapv:UnspecifiedMatching -orphanet.ordo:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching -orphanet.ordo:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching -orphanet.ordo:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching -orphanet.ordo:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching -orphanet.ordo:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:617072 semapv:UnspecifiedMatching -orphanet.ordo:424936 Carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C0221287 semapv:UnspecifiedMatching -orphanet.ordo:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching -orphanet.ordo:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching -orphanet.ordo:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching -orphanet.ordo:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching -orphanet.ordo:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching -orphanet.ordo:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching -orphanet.ordo:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C28.9 semapv:UnspecifiedMatching -orphanet.ordo:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching -orphanet.ordo:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching -orphanet.ordo:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching -orphanet.ordo:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching -orphanet.ordo:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.9 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MESH:D052456 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MeSH:D052456 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MedDRA:10065133 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:604091 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:618463 semapv:UnspecifiedMatching -orphanet.ordo:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref UMLS:C0342898 semapv:UnspecifiedMatching -orphanet.ordo:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching -orphanet.ordo:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:42642 PFAPA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:42642 PFAPA syndrome oboInOwl:hasDbXref UMLS:C2938935 semapv:UnspecifiedMatching -orphanet.ordo:42665 Tietz syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:42665 Tietz syndrome oboInOwl:hasDbXref MESH:C536919 semapv:UnspecifiedMatching -orphanet.ordo:42665 Tietz syndrome oboInOwl:hasDbXref MeSH:C536919 semapv:UnspecifiedMatching -orphanet.ordo:42665 Tietz syndrome oboInOwl:hasDbXref OMIM:103500 semapv:UnspecifiedMatching -orphanet.ordo:42665 Tietz syndrome oboInOwl:hasDbXref UMLS:C0391816 semapv:UnspecifiedMatching -orphanet.ordo:427 Familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:203400 semapv:UnspecifiedMatching -orphanet.ordo:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:606984 semapv:UnspecifiedMatching -orphanet.ordo:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:610600 semapv:UnspecifiedMatching -orphanet.ordo:42738 Severe congenital neutropenia oboInOwl:hasDbXref MESH:C537592 semapv:UnspecifiedMatching -orphanet.ordo:42738 Severe congenital neutropenia oboInOwl:hasDbXref MeSH:C537592 semapv:UnspecifiedMatching -orphanet.ordo:42738 Severe congenital neutropenia oboInOwl:hasDbXref MedDRA:10052210 semapv:UnspecifiedMatching -orphanet.ordo:42738 Severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1853118 semapv:UnspecifiedMatching -orphanet.ordo:42775 PHACE syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching -orphanet.ordo:42775 PHACE syndrome oboInOwl:hasDbXref MedDRA:10068032 semapv:UnspecifiedMatching -orphanet.ordo:42775 PHACE syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching -orphanet.ordo:42775 PHACE syndrome oboInOwl:hasDbXref OMIM:606519 semapv:UnspecifiedMatching -orphanet.ordo:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching -orphanet.ordo:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching -orphanet.ordo:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIM:615361 semapv:UnspecifiedMatching -orphanet.ordo:429 Hypochondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching -orphanet.ordo:429 Hypochondroplasia oboInOwl:hasDbXref MedDRA:10020967 semapv:UnspecifiedMatching -orphanet.ordo:429 Hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching -orphanet.ordo:429 Hypochondroplasia oboInOwl:hasDbXref UMLS:C0410529 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MeSH:D000326 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MedDRA:10051260 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:302700 semapv:UnspecifiedMatching -orphanet.ordo:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0162309 semapv:UnspecifiedMatching -orphanet.ordo:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref MESH:C535878 semapv:UnspecifiedMatching -orphanet.ordo:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref MESH:C537365 semapv:UnspecifiedMatching -orphanet.ordo:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref MeSH:C535878 semapv:UnspecifiedMatching -orphanet.ordo:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref MeSH:C537365 semapv:UnspecifiedMatching -orphanet.ordo:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref OMIM:308200 semapv:UnspecifiedMatching -orphanet.ordo:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching -orphanet.ordo:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching -orphanet.ordo:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref OMIM:255125 semapv:UnspecifiedMatching -orphanet.ordo:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref UMLS:C1850718 semapv:UnspecifiedMatching -orphanet.ordo:43116 Serotonin syndrome oboInOwl:hasDbXref ICD10:T43.1 semapv:UnspecifiedMatching -orphanet.ordo:43116 Serotonin syndrome oboInOwl:hasDbXref MESH:D020230 semapv:UnspecifiedMatching -orphanet.ordo:43116 Serotonin syndrome oboInOwl:hasDbXref MeSH:D020230 semapv:UnspecifiedMatching -orphanet.ordo:43116 Serotonin syndrome oboInOwl:hasDbXref MedDRA:10040108 semapv:UnspecifiedMatching -orphanet.ordo:43116 Serotonin syndrome oboInOwl:hasDbXref UMLS:C0699828 semapv:UnspecifiedMatching -orphanet.ordo:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616636 semapv:UnspecifiedMatching -orphanet.ordo:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616669 semapv:UnspecifiedMatching -orphanet.ordo:43117 Acute tricyclic antidepressant poisoning oboInOwl:hasDbXref ICD10:T43.0 semapv:UnspecifiedMatching -orphanet.ordo:43119 Acute poisoning by drugs with membrane-stabilizing effect oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching -orphanet.ordo:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 semapv:UnspecifiedMatching -orphanet.ordo:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0751335 semapv:UnspecifiedMatching -orphanet.ordo:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching -orphanet.ordo:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref OMIM:615658 semapv:UnspecifiedMatching -orphanet.ordo:431341 Patent urachus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching -orphanet.ordo:431344 Urachal sinus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching -orphanet.ordo:431347 Urachal diverticulum oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching -orphanet.ordo:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref OMIM:616034 semapv:UnspecifiedMatching -orphanet.ordo:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref UMLS:C1857252 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:146110 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:308700 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:610628 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:612370 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:612702 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614837 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614838 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614839 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614841 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614842 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614880 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615269 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615270 semapv:UnspecifiedMatching -orphanet.ordo:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:619755 semapv:UnspecifiedMatching -orphanet.ordo:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD10:G73.1 semapv:UnspecifiedMatching -orphanet.ordo:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MESH:D015624 semapv:UnspecifiedMatching -orphanet.ordo:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MeSH:D015624 semapv:UnspecifiedMatching -orphanet.ordo:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MedDRA:10067685 semapv:UnspecifiedMatching -orphanet.ordo:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref UMLS:C0022972 semapv:UnspecifiedMatching -orphanet.ordo:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref OMIM:615948 semapv:UnspecifiedMatching -orphanet.ordo:434809 Syndrome with woolly hair oboInOwl:hasDbXref UMLS:C0345427 semapv:UnspecifiedMatching -orphanet.ordo:435329 Familial ossifying fibroma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching -orphanet.ordo:435329 Familial ossifying fibroma oboInOwl:hasDbXref OMIM:137575 semapv:UnspecifiedMatching -orphanet.ordo:435372 Anterior urethral valve oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching -orphanet.ordo:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref OMIM:616687 semapv:UnspecifiedMatching -orphanet.ordo:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref OMIM:616187 semapv:UnspecifiedMatching -orphanet.ordo:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref OMIM:614098 semapv:UnspecifiedMatching -orphanet.ordo:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615238 semapv:UnspecifiedMatching -orphanet.ordo:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615980 semapv:UnspecifiedMatching -orphanet.ordo:435743 Congenital urachal anomaly oboInOwl:hasDbXref UMLS:C1739100 semapv:UnspecifiedMatching -orphanet.ordo:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching -orphanet.ordo:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching -orphanet.ordo:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching -orphanet.ordo:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref OMIM:614498 semapv:UnspecifiedMatching -orphanet.ordo:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref OMIM:618056 semapv:UnspecifiedMatching -orphanet.ordo:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching -orphanet.ordo:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref OMIM:212550 semapv:UnspecifiedMatching -orphanet.ordo:435934 COG2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:435934 COG2-CDG oboInOwl:hasDbXref OMIM:617395 semapv:UnspecifiedMatching -orphanet.ordo:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:300998 semapv:UnspecifiedMatching -orphanet.ordo:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:616200 semapv:UnspecifiedMatching -orphanet.ordo:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref OMIM:616201 semapv:UnspecifiedMatching -orphanet.ordo:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:616039 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref MESH:D007014 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref MeSH:D007014 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref MedDRA:10049933 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:241510 semapv:UnspecifiedMatching -orphanet.ordo:436 Hypophosphatasia oboInOwl:hasDbXref UMLS:C0020630 semapv:UnspecifiedMatching -orphanet.ordo:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616078 semapv:UnspecifiedMatching -orphanet.ordo:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616083 semapv:UnspecifiedMatching -orphanet.ordo:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref OMIM:616100 semapv:UnspecifiedMatching -orphanet.ordo:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616050 semapv:UnspecifiedMatching -orphanet.ordo:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.3 semapv:UnspecifiedMatching -orphanet.ordo:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref OMIM:614486 semapv:UnspecifiedMatching -orphanet.ordo:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref UMLS:C3280976 semapv:UnspecifiedMatching -orphanet.ordo:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:616007 semapv:UnspecifiedMatching -orphanet.ordo:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref OMIM:616541 semapv:UnspecifiedMatching -orphanet.ordo:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref OMIM:617253 semapv:UnspecifiedMatching -orphanet.ordo:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching -orphanet.ordo:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref OMIM:616117 semapv:UnspecifiedMatching -orphanet.ordo:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616108 semapv:UnspecifiedMatching -orphanet.ordo:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching -orphanet.ordo:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:437 Hypophosphatemic rickets oboInOwl:hasDbXref MedDRA:10060873 semapv:UnspecifiedMatching -orphanet.ordo:437 Hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C1704375 semapv:UnspecifiedMatching -orphanet.ordo:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref OMIM:615707 semapv:UnspecifiedMatching -orphanet.ordo:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref OMIM:616095 semapv:UnspecifiedMatching -orphanet.ordo:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616140 semapv:UnspecifiedMatching -orphanet.ordo:438117 Steel syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:438117 Steel syndrome oboInOwl:hasDbXref OMIM:615155 semapv:UnspecifiedMatching -orphanet.ordo:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref OMIM:615919 semapv:UnspecifiedMatching -orphanet.ordo:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref OMIM:615952 semapv:UnspecifiedMatching -orphanet.ordo:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref OMIM:616154 semapv:UnspecifiedMatching -orphanet.ordo:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref OMIM:616176 semapv:UnspecifiedMatching -orphanet.ordo:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching -orphanet.ordo:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching -orphanet.ordo:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching -orphanet.ordo:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref UMLS:C1861457 semapv:UnspecifiedMatching -orphanet.ordo:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref ICD10:E16.3 semapv:UnspecifiedMatching -orphanet.ordo:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref OMIM:619290 semapv:UnspecifiedMatching -orphanet.ordo:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B03 semapv:UnspecifiedMatching -orphanet.ordo:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B04 semapv:UnspecifiedMatching -orphanet.ordo:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B08.0 semapv:UnspecifiedMatching -orphanet.ordo:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching -orphanet.ordo:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref OMIM:277200 semapv:UnspecifiedMatching -orphanet.ordo:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref UMLS:C1848587 semapv:UnspecifiedMatching -orphanet.ordo:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:O36.5 semapv:UnspecifiedMatching -orphanet.ordo:439167 Placental insufficiency oboInOwl:hasDbXref UMLS:C0032051 semapv:UnspecifiedMatching -orphanet.ordo:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref ICD10:I63.5 semapv:UnspecifiedMatching -orphanet.ordo:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref ICD10:L53.8 semapv:UnspecifiedMatching -orphanet.ordo:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref ICD10:P14.3 semapv:UnspecifiedMatching -orphanet.ordo:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref OMIM:614399 semapv:UnspecifiedMatching -orphanet.ordo:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref OMIM:613720 semapv:UnspecifiedMatching -orphanet.ordo:439224 ALECT2 amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching -orphanet.ordo:439232 AApoAIV amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching -orphanet.ordo:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching -orphanet.ordo:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching -orphanet.ordo:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching -orphanet.ordo:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching -orphanet.ordo:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching -orphanet.ordo:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching -orphanet.ordo:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching -orphanet.ordo:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching -orphanet.ordo:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0031036 semapv:UnspecifiedMatching -orphanet.ordo:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref OMIM:615668 semapv:UnspecifiedMatching -orphanet.ordo:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref OMIM:261740 semapv:UnspecifiedMatching -orphanet.ordo:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref UMLS:C1849813 semapv:UnspecifiedMatching -orphanet.ordo:439881 Plastic bronchitis oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching -orphanet.ordo:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref OMIM:616258 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref MESH:D018901 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref MeSH:D018901 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching -orphanet.ordo:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0282525 semapv:UnspecifiedMatching -orphanet.ordo:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 semapv:UnspecifiedMatching -orphanet.ordo:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching -orphanet.ordo:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching -orphanet.ordo:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref OMIM:615486 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.2 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.3 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.4 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.5 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching -orphanet.ordo:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching -orphanet.ordo:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref OMIM:608611 semapv:UnspecifiedMatching -orphanet.ordo:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref UMLS:C1291609 semapv:UnspecifiedMatching -orphanet.ordo:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref OMIM:617213 semapv:UnspecifiedMatching -orphanet.ordo:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching -orphanet.ordo:440727 Combined hamartoma of the retina and retinal pigment epithelium oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching -orphanet.ordo:440731 L-ferritin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching -orphanet.ordo:440731 L-ferritin deficiency oboInOwl:hasDbXref OMIM:615604 semapv:UnspecifiedMatching -orphanet.ordo:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref ICD10:Q44.0 semapv:UnspecifiedMatching -orphanet.ordo:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref UMLS:C0266251 semapv:UnspecifiedMatching -orphanet.ordo:441 Pure autonomic failure oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:441 Pure autonomic failure oboInOwl:hasDbXref MESH:C544351 semapv:UnspecifiedMatching -orphanet.ordo:441 Pure autonomic failure oboInOwl:hasDbXref MESH:D054970 semapv:UnspecifiedMatching -orphanet.ordo:441 Pure autonomic failure oboInOwl:hasDbXref MeSH:C544351 semapv:UnspecifiedMatching -orphanet.ordo:441 Pure autonomic failure oboInOwl:hasDbXref MeSH:D054970 semapv:UnspecifiedMatching -orphanet.ordo:441 Pure autonomic failure oboInOwl:hasDbXref UMLS:C0393911 semapv:UnspecifiedMatching -orphanet.ordo:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching -orphanet.ordo:441452 Early-onset lamellar cataract oboInOwl:hasDbXref ICD10:H26.8 semapv:UnspecifiedMatching -orphanet.ordo:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching -orphanet.ordo:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -orphanet.ordo:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -orphanet.ordo:442 Congenital hypothyroidism oboInOwl:hasDbXref MESH:D003409 semapv:UnspecifiedMatching -orphanet.ordo:442 Congenital hypothyroidism oboInOwl:hasDbXref MeSH:D003409 semapv:UnspecifiedMatching -orphanet.ordo:442 Congenital hypothyroidism oboInOwl:hasDbXref MedDRA:10010510 semapv:UnspecifiedMatching -orphanet.ordo:442 Congenital hypothyroidism oboInOwl:hasDbXref UMLS:C0010308 semapv:UnspecifiedMatching -orphanet.ordo:442582 AH amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:301058 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:614558 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615476 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615833 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615871 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615905 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616056 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616211 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616339 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616346 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616366 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616409 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617020 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617105 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617106 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617132 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617153 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617162 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617166 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617665 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617829 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617830 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617831 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617836 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617854 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617938 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618008 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618012 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618067 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618201 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618396 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618437 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618468 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618557 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618559 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618910 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618916 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618959 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619124 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619317 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619561 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619605 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619606 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619777 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619814 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619881 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619913 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619922 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619970 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620033 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620115 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620145 semapv:UnspecifiedMatching -orphanet.ordo:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620149 semapv:UnspecifiedMatching -orphanet.ordo:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching -orphanet.ordo:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching -orphanet.ordo:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C1867968 semapv:UnspecifiedMatching -orphanet.ordo:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching -orphanet.ordo:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching -orphanet.ordo:443070 Hemicrania continua oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching -orphanet.ordo:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref OMIM:616155 semapv:UnspecifiedMatching -orphanet.ordo:443079 Central serous chorioretinopathy oboInOwl:hasDbXref ICD10:H35.7 semapv:UnspecifiedMatching -orphanet.ordo:443079 Central serous chorioretinopathy oboInOwl:hasDbXref UMLS:C0730328 semapv:UnspecifiedMatching -orphanet.ordo:443084 Baroreflex failure oboInOwl:hasDbXref ICD10:G90.4 semapv:UnspecifiedMatching -orphanet.ordo:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching -orphanet.ordo:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref OMIM:614279 semapv:UnspecifiedMatching -orphanet.ordo:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref UMLS:C1839840 semapv:UnspecifiedMatching -orphanet.ordo:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching -orphanet.ordo:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref OMIM:144755 semapv:UnspecifiedMatching -orphanet.ordo:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref UMLS:C1840404 semapv:UnspecifiedMatching -orphanet.ordo:443101 Hypothalamic adipsic hypernatraemia syndrome oboInOwl:hasDbXref ICD10:E23.3 semapv:UnspecifiedMatching -orphanet.ordo:443159 Lymphoplasmacytic lymphoma without IgM production oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching -orphanet.ordo:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref OMIM:605013 semapv:UnspecifiedMatching -orphanet.ordo:443167 NUT midline carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching -orphanet.ordo:443173 Postpartum psychosis oboInOwl:hasDbXref ICD10:F53.1 semapv:UnspecifiedMatching -orphanet.ordo:443173 Postpartum psychosis oboInOwl:hasDbXref UMLS:C0520678 semapv:UnspecifiedMatching -orphanet.ordo:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref ICD10:G96.0 semapv:UnspecifiedMatching -orphanet.ordo:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref UMLS:C0751731 semapv:UnspecifiedMatching -orphanet.ordo:443192 Classic stiff person syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:443192 Classic stiff person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching -orphanet.ordo:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching -orphanet.ordo:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching -orphanet.ordo:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C2677889 semapv:UnspecifiedMatching -orphanet.ordo:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.1 semapv:UnspecifiedMatching -orphanet.ordo:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.2 semapv:UnspecifiedMatching -orphanet.ordo:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.3 semapv:UnspecifiedMatching -orphanet.ordo:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 semapv:UnspecifiedMatching -orphanet.ordo:443227 Paratyphoid fever oboInOwl:hasDbXref UMLS:C0030528 semapv:UnspecifiedMatching -orphanet.ordo:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref ICD10:I95.1 semapv:UnspecifiedMatching -orphanet.ordo:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref OMIM:604715 semapv:UnspecifiedMatching -orphanet.ordo:443291 HIV-associated cancer oboInOwl:hasDbXref ICD10:B21.8 semapv:UnspecifiedMatching -orphanet.ordo:443804 Focal stiff limb syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:443804 Focal stiff limb syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching -orphanet.ordo:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:443811 PGM3-CDG oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching -orphanet.ordo:443909 Hereditary nonpolyposis colon cancer oboInOwl:hasDbXref UMLS:C1112155 semapv:UnspecifiedMatching -orphanet.ordo:443909 Hereditary nonpolyposis colon cancer oboInOwl:hasDbXref UMLS:C1333990 semapv:UnspecifiedMatching -orphanet.ordo:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching -orphanet.ordo:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref OMIM:219730 semapv:UnspecifiedMatching -orphanet.ordo:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref UMLS:C1857423 semapv:UnspecifiedMatching -orphanet.ordo:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref OMIM:616367 semapv:UnspecifiedMatching -orphanet.ordo:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching -orphanet.ordo:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref MESH:C535912 semapv:UnspecifiedMatching -orphanet.ordo:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref MeSH:C535912 semapv:UnspecifiedMatching -orphanet.ordo:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref OMIM:146550 semapv:UnspecifiedMatching -orphanet.ordo:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref OMIM:612841 semapv:UnspecifiedMatching -orphanet.ordo:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref UMLS:C2931059 semapv:UnspecifiedMatching -orphanet.ordo:444002 11q22.2q22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref OMIM:616198 semapv:UnspecifiedMatching -orphanet.ordo:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching -orphanet.ordo:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref OMIM:616185 semapv:UnspecifiedMatching -orphanet.ordo:444051 20q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome oboInOwl:hasDbXref OMIM:243605 semapv:UnspecifiedMatching -orphanet.ordo:444072 Cerebellar-facial-dental syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:444072 Cerebellar-facial-dental syndrome oboInOwl:hasDbXref OMIM:616202 semapv:UnspecifiedMatching -orphanet.ordo:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:616368 semapv:UnspecifiedMatching -orphanet.ordo:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref OMIM:616414 semapv:UnspecifiedMatching -orphanet.ordo:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching -orphanet.ordo:444116 Hereditary amyloidosis oboInOwl:hasDbXref UMLS:C0206246 semapv:UnspecifiedMatching -orphanet.ordo:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref OMIM:616295 semapv:UnspecifiedMatching -orphanet.ordo:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref OMIM:616239 semapv:UnspecifiedMatching -orphanet.ordo:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619220 semapv:UnspecifiedMatching -orphanet.ordo:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching -orphanet.ordo:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:118830 semapv:UnspecifiedMatching -orphanet.ordo:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching -orphanet.ordo:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching -orphanet.ordo:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching -orphanet.ordo:444916 Pseudohypoaldosteronism oboInOwl:hasDbXref UMLS:C0033805 semapv:UnspecifiedMatching -orphanet.ordo:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref OMIM:614700 semapv:UnspecifiedMatching -orphanet.ordo:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching -orphanet.ordo:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:619835 semapv:UnspecifiedMatching -orphanet.ordo:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref OMIM:616192 semapv:UnspecifiedMatching -orphanet.ordo:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref OMIM:616094 semapv:UnspecifiedMatching -orphanet.ordo:446 Neonatal hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:446 Neonatal hemochromatosis oboInOwl:hasDbXref MESH:C536394 semapv:UnspecifiedMatching -orphanet.ordo:446 Neonatal hemochromatosis oboInOwl:hasDbXref MeSH:C536394 semapv:UnspecifiedMatching -orphanet.ordo:446 Neonatal hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching -orphanet.ordo:446 Neonatal hemochromatosis oboInOwl:hasDbXref UMLS:C0268059 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10:D59.5 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MESH:D006457 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MeSH:D006457 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MedDRA:10034042 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 semapv:UnspecifiedMatching -orphanet.ordo:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0024790 semapv:UnspecifiedMatching -orphanet.ordo:447731 NIK deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:447737 DOCK2 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:447737 DOCK2 deficiency oboInOwl:hasDbXref OMIM:616433 semapv:UnspecifiedMatching -orphanet.ordo:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -orphanet.ordo:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref OMIM:601162 semapv:UnspecifiedMatching -orphanet.ordo:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref OMIM:616586 semapv:UnspecifiedMatching -orphanet.ordo:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching -orphanet.ordo:447771 Sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0008313 semapv:UnspecifiedMatching -orphanet.ordo:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching -orphanet.ordo:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching -orphanet.ordo:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 semapv:UnspecifiedMatching -orphanet.ordo:447788 Cerebral visual impairment oboInOwl:hasDbXref ICD10:H47.6 semapv:UnspecifiedMatching -orphanet.ordo:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref OMIM:612591 semapv:UnspecifiedMatching -orphanet.ordo:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref OMIM:615083 semapv:UnspecifiedMatching -orphanet.ordo:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching -orphanet.ordo:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching -orphanet.ordo:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching -orphanet.ordo:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref OMIM:616430 semapv:UnspecifiedMatching -orphanet.ordo:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref ICD10:D04.8 semapv:UnspecifiedMatching -orphanet.ordo:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref OMIM:618373 semapv:UnspecifiedMatching -orphanet.ordo:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref OMIM:616491 semapv:UnspecifiedMatching -orphanet.ordo:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching -orphanet.ordo:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616549 semapv:UnspecifiedMatching -orphanet.ordo:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref OMIM:616852 semapv:UnspecifiedMatching -orphanet.ordo:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref OMIM:616657 semapv:UnspecifiedMatching -orphanet.ordo:448 Hemophilia oboInOwl:hasDbXref MedDRA:10061992 semapv:UnspecifiedMatching -orphanet.ordo:448 Hemophilia oboInOwl:hasDbXref UMLS:C0684275 semapv:UnspecifiedMatching -orphanet.ordo:448010 CAD-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:448010 CAD-CDG oboInOwl:hasDbXref OMIM:616457 semapv:UnspecifiedMatching -orphanet.ordo:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:UnspecifiedMatching -orphanet.ordo:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -orphanet.ordo:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching -orphanet.ordo:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching -orphanet.ordo:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:616291 semapv:UnspecifiedMatching -orphanet.ordo:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:613000 semapv:UnspecifiedMatching -orphanet.ordo:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:616400 semapv:UnspecifiedMatching -orphanet.ordo:448267 Regressive spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:448267 Regressive spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:618019 semapv:UnspecifiedMatching -orphanet.ordo:448270 Ectopia cordis oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:448270 Ectopia cordis oboInOwl:hasDbXref UMLS:C0013580 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10:C26.9 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MeSH:D046152 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MedDRA:10051066 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:175510 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:606764 semapv:UnspecifiedMatching -orphanet.ordo:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C0238198 semapv:UnspecifiedMatching -orphanet.ordo:449 Hepatoblastoma oboInOwl:hasDbXref ICD10:C22.2 semapv:UnspecifiedMatching -orphanet.ordo:449 Hepatoblastoma oboInOwl:hasDbXref MESH:D018197 semapv:UnspecifiedMatching -orphanet.ordo:449 Hepatoblastoma oboInOwl:hasDbXref MeSH:D018197 semapv:UnspecifiedMatching -orphanet.ordo:449 Hepatoblastoma oboInOwl:hasDbXref MedDRA:10062001 semapv:UnspecifiedMatching -orphanet.ordo:449 Hepatoblastoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching -orphanet.ordo:449 Hepatoblastoma oboInOwl:hasDbXref UMLS:C0206624 semapv:UnspecifiedMatching -orphanet.ordo:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -orphanet.ordo:449266 Pleural empyema oboInOwl:hasDbXref ICD10:J86.9 semapv:UnspecifiedMatching -orphanet.ordo:449266 Pleural empyema oboInOwl:hasDbXref UMLS:C0014013 semapv:UnspecifiedMatching -orphanet.ordo:449280 Scedosporiosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching -orphanet.ordo:449285 Snakebite envenomation oboInOwl:hasDbXref ICD10:T63.0 semapv:UnspecifiedMatching -orphanet.ordo:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching -orphanet.ordo:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching -orphanet.ordo:449395 IgG4-related kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching -orphanet.ordo:449400 IgG4-related aortitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching -orphanet.ordo:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching -orphanet.ordo:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching -orphanet.ordo:449563 IgG4-related ophthalmic disease oboInOwl:hasDbXref ICD10:H05.1 semapv:UnspecifiedMatching -orphanet.ordo:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref ICD10:J39.8 semapv:UnspecifiedMatching -orphanet.ordo:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref MESH:C538234 semapv:UnspecifiedMatching -orphanet.ordo:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref MeSH:C538234 semapv:UnspecifiedMatching -orphanet.ordo:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:612874 semapv:UnspecifiedMatching -orphanet.ordo:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:615511 semapv:UnspecifiedMatching -orphanet.ordo:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref UMLS:C2931781 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref MedDRA:10067265 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:306955 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:601086 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:605376 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:606325 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:613751 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:614779 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:616749 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:617205 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:618948 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref OMIM:619702 semapv:UnspecifiedMatching -orphanet.ordo:450 Heterotaxia oboInOwl:hasDbXref UMLS:C3178805 semapv:UnspecifiedMatching -orphanet.ordo:450322 Polyclonal hyperviscosity syndrome oboInOwl:hasDbXref ICD10:D89.0 semapv:UnspecifiedMatching -orphanet.ordo:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching -orphanet.ordo:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching -orphanet.ordo:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref UMLS:C0311220 semapv:UnspecifiedMatching -orphanet.ordo:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref ICD10:Q10.5 semapv:UnspecifiedMatching -orphanet.ordo:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref OMIM:149700 semapv:UnspecifiedMatching -orphanet.ordo:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref OMIM:300215 semapv:UnspecifiedMatching -orphanet.ordo:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref UMLS:C1846171 semapv:UnspecifiedMatching -orphanet.ordo:453 IBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching -orphanet.ordo:453 IBIDS syndrome oboInOwl:hasDbXref UMLS:C1866505 semapv:UnspecifiedMatching -orphanet.ordo:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:616580 semapv:UnspecifiedMatching -orphanet.ordo:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616580 semapv:UnspecifiedMatching -orphanet.ordo:453510 Congenital insensitivity to pain with severe intellectual disability oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref OMIM:616127 semapv:UnspecifiedMatching -orphanet.ordo:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref OMIM:616113 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:135700 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:600638 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:602078 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609384 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609428 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609612 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching -orphanet.ordo:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref UMLS:C1302995 semapv:UnspecifiedMatching -orphanet.ordo:45360 NON RARE IN EUROPE: Menière disease oboInOwl:hasDbXref ICD10:H81.0 semapv:UnspecifiedMatching -orphanet.ordo:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching -orphanet.ordo:45448 Miyoshi myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:45448 Miyoshi myopathy oboInOwl:hasDbXref MESH:C537480 semapv:UnspecifiedMatching -orphanet.ordo:45448 Miyoshi myopathy oboInOwl:hasDbXref MeSH:C537480 semapv:UnspecifiedMatching -orphanet.ordo:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:254130 semapv:UnspecifiedMatching -orphanet.ordo:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:613318 semapv:UnspecifiedMatching -orphanet.ordo:45448 Miyoshi myopathy oboInOwl:hasDbXref UMLS:C1850808 semapv:UnspecifiedMatching -orphanet.ordo:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref ICD10:P29.1 semapv:UnspecifiedMatching -orphanet.ordo:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching -orphanet.ordo:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref UMLS:C0340487 semapv:UnspecifiedMatching -orphanet.ordo:454700 Acquired Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching -orphanet.ordo:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:454706 Progressive muscular atrophy oboInOwl:hasDbXref UMLS:C0917981 semapv:UnspecifiedMatching -orphanet.ordo:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching -orphanet.ordo:454714 Plasma cell leukemia oboInOwl:hasDbXref ICD10:C90.1 semapv:UnspecifiedMatching -orphanet.ordo:454714 Plasma cell leukemia oboInOwl:hasDbXref UMLS:C0023484 semapv:UnspecifiedMatching -orphanet.ordo:454718 Holmes-Adie syndrome oboInOwl:hasDbXref ICD10:H57.0 semapv:UnspecifiedMatching -orphanet.ordo:454718 Holmes-Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching -orphanet.ordo:454718 Holmes-Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 semapv:UnspecifiedMatching -orphanet.ordo:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref UMLS:C0346163 semapv:UnspecifiedMatching -orphanet.ordo:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching -orphanet.ordo:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching -orphanet.ordo:454745 Kuru oboInOwl:hasDbXref OMIM:245300 semapv:UnspecifiedMatching -orphanet.ordo:454745 Kuru oboInOwl:hasDbXref UMLS:C0022802 semapv:UnspecifiedMatching -orphanet.ordo:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref ICD10:Q39.2 semapv:UnspecifiedMatching -orphanet.ordo:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref UMLS:C0040588 semapv:UnspecifiedMatching -orphanet.ordo:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching -orphanet.ordo:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching -orphanet.ordo:454831 Acute radiation syndrome oboInOwl:hasDbXref ICD10:T66 semapv:UnspecifiedMatching -orphanet.ordo:454836 Avian influenza oboInOwl:hasDbXref ICD10:J09 semapv:UnspecifiedMatching -orphanet.ordo:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching -orphanet.ordo:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -orphanet.ordo:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref MESH:D053560 semapv:UnspecifiedMatching -orphanet.ordo:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref MeSH:D053560 semapv:UnspecifiedMatching -orphanet.ordo:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:146800 semapv:UnspecifiedMatching -orphanet.ordo:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0432306 semapv:UnspecifiedMatching -orphanet.ordo:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref OMIM:616263 semapv:UnspecifiedMatching -orphanet.ordo:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref OMIM:614116 semapv:UnspecifiedMatching -orphanet.ordo:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300219 semapv:UnspecifiedMatching -orphanet.ordo:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref ICD10:C17.9 semapv:UnspecifiedMatching -orphanet.ordo:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref OMIM:616199 semapv:UnspecifiedMatching -orphanet.ordo:457 Harlequin ichthyosis oboInOwl:hasDbXref ICD10:Q80.4 semapv:UnspecifiedMatching -orphanet.ordo:457 Harlequin ichthyosis oboInOwl:hasDbXref MedDRA:10019163 semapv:UnspecifiedMatching -orphanet.ordo:457 Harlequin ichthyosis oboInOwl:hasDbXref OMIM:242500 semapv:UnspecifiedMatching -orphanet.ordo:457 Harlequin ichthyosis oboInOwl:hasDbXref UMLS:C0239849 semapv:UnspecifiedMatching -orphanet.ordo:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref OMIM:616209 semapv:UnspecifiedMatching -orphanet.ordo:457077 TAFRO syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:457083 Isolated splenogonadal fusion oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching -orphanet.ordo:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref OMIM:212050 semapv:UnspecifiedMatching -orphanet.ordo:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.0 semapv:UnspecifiedMatching -orphanet.ordo:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.1 semapv:UnspecifiedMatching -orphanet.ordo:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.2 semapv:UnspecifiedMatching -orphanet.ordo:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.7 semapv:UnspecifiedMatching -orphanet.ordo:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.8 semapv:UnspecifiedMatching -orphanet.ordo:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref OMIM:616276 semapv:UnspecifiedMatching -orphanet.ordo:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome oboInOwl:hasDbXref OMIM:616268 semapv:UnspecifiedMatching -orphanet.ordo:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref ICD10:F78.1 semapv:UnspecifiedMatching -orphanet.ordo:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref OMIM:616269 semapv:UnspecifiedMatching -orphanet.ordo:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:617872 semapv:UnspecifiedMatching -orphanet.ordo:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref OMIM:300957 semapv:UnspecifiedMatching -orphanet.ordo:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:457252 Squamous cell carcinoma of the oral tongue oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching -orphanet.ordo:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching -orphanet.ordo:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref OMIM:300958 semapv:UnspecifiedMatching -orphanet.ordo:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref OMIM:616540 semapv:UnspecifiedMatching -orphanet.ordo:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref OMIM:616355 semapv:UnspecifiedMatching -orphanet.ordo:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616362 semapv:UnspecifiedMatching -orphanet.ordo:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref OMIM:616577 semapv:UnspecifiedMatching -orphanet.ordo:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref OMIM:617011 semapv:UnspecifiedMatching -orphanet.ordo:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref OMIM:616647 semapv:UnspecifiedMatching -orphanet.ordo:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref OMIM:616897 semapv:UnspecifiedMatching -orphanet.ordo:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616723 semapv:UnspecifiedMatching -orphanet.ordo:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref OMIM:616370 semapv:UnspecifiedMatching -orphanet.ordo:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome oboInOwl:hasDbXref OMIM:616638 semapv:UnspecifiedMatching -orphanet.ordo:458713 NON RARE IN EUROPE: Specific language impairment oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching -orphanet.ordo:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref ICD10:I25.4 semapv:UnspecifiedMatching -orphanet.ordo:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref OMIM:122455 semapv:UnspecifiedMatching -orphanet.ordo:458758 Composite hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -orphanet.ordo:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -orphanet.ordo:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -orphanet.ordo:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:458792 Mixed cystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref OMIM:616410 semapv:UnspecifiedMatching -orphanet.ordo:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref OMIM:616795 semapv:UnspecifiedMatching -orphanet.ordo:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching -orphanet.ordo:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref OMIM:616267 semapv:UnspecifiedMatching -orphanet.ordo:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref OMIM:616583 semapv:UnspecifiedMatching -orphanet.ordo:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref OMIM:616680 semapv:UnspecifiedMatching -orphanet.ordo:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616901 semapv:UnspecifiedMatching -orphanet.ordo:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:620062 semapv:UnspecifiedMatching -orphanet.ordo:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:300998 semapv:UnspecifiedMatching -orphanet.ordo:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching -orphanet.ordo:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching -orphanet.ordo:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref MESH:C538235 semapv:UnspecifiedMatching -orphanet.ordo:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref MeSH:C538235 semapv:UnspecifiedMatching -orphanet.ordo:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref OMIM:103050 semapv:UnspecifiedMatching -orphanet.ordo:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref UMLS:C0268126 semapv:UnspecifiedMatching -orphanet.ordo:46059 Lathosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:46059 Lathosterolosis oboInOwl:hasDbXref MESH:C537880 semapv:UnspecifiedMatching -orphanet.ordo:46059 Lathosterolosis oboInOwl:hasDbXref MeSH:C537880 semapv:UnspecifiedMatching -orphanet.ordo:46059 Lathosterolosis oboInOwl:hasDbXref OMIM:607330 semapv:UnspecifiedMatching -orphanet.ordo:46059 Lathosterolosis oboInOwl:hasDbXref UMLS:C1846421 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MeSH:D016114 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MedDRA:10048063 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:300001 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching -orphanet.ordo:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C0079588 semapv:UnspecifiedMatching -orphanet.ordo:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref MedDRA:10036685 semapv:UnspecifiedMatching -orphanet.ordo:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref UMLS:C0280803 semapv:UnspecifiedMatching -orphanet.ordo:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching -orphanet.ordo:463 NON RARE IN EUROPE: Adrenal incidentaloma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -orphanet.ordo:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 semapv:UnspecifiedMatching -orphanet.ordo:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS:C1833661 semapv:UnspecifiedMatching -orphanet.ordo:464 Incontinentia pigmenti oboInOwl:hasDbXref ICD10:Q82.3 semapv:UnspecifiedMatching -orphanet.ordo:464 Incontinentia pigmenti oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching -orphanet.ordo:464 Incontinentia pigmenti oboInOwl:hasDbXref MeSH:D007184 semapv:UnspecifiedMatching -orphanet.ordo:464 Incontinentia pigmenti oboInOwl:hasDbXref OMIM:308300 semapv:UnspecifiedMatching -orphanet.ordo:464 Incontinentia pigmenti oboInOwl:hasDbXref UMLS:C0021171 semapv:UnspecifiedMatching -orphanet.ordo:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref OMIM:616756 semapv:UnspecifiedMatching -orphanet.ordo:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref OMIM:617157 semapv:UnspecifiedMatching -orphanet.ordo:464293 NON RARE IN EUROPE: Infantile capillary hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching -orphanet.ordo:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:464336 BENTA disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:464336 BENTA disease oboInOwl:hasDbXref OMIM:616452 semapv:UnspecifiedMatching -orphanet.ordo:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching -orphanet.ordo:464359 Benign metanephric tumor oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching -orphanet.ordo:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref OMIM:617022 semapv:UnspecifiedMatching -orphanet.ordo:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 semapv:UnspecifiedMatching -orphanet.ordo:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref OMIM:616411 semapv:UnspecifiedMatching -orphanet.ordo:464443 COG6-CGD oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:464443 COG6-CGD oboInOwl:hasDbXref OMIM:614576 semapv:UnspecifiedMatching -orphanet.ordo:464453 Acquired methemoglobinemia oboInOwl:hasDbXref ICD10:D74.8 semapv:UnspecifiedMatching -orphanet.ordo:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching -orphanet.ordo:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching -orphanet.ordo:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching -orphanet.ordo:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:616483 semapv:UnspecifiedMatching -orphanet.ordo:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:618641 semapv:UnspecifiedMatching -orphanet.ordo:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref OMIM:616449 semapv:UnspecifiedMatching -orphanet.ordo:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching -orphanet.ordo:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching -orphanet.ordo:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref OMIM:611543 semapv:UnspecifiedMatching -orphanet.ordo:46484 Oligodendroglial tumor oboInOwl:hasDbXref UMLS:C0028945 semapv:UnspecifiedMatching -orphanet.ordo:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref ICD10:L12.1 semapv:UnspecifiedMatching -orphanet.ordo:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref MedDRA:10057052 semapv:UnspecifiedMatching -orphanet.ordo:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref OMIM:164185 semapv:UnspecifiedMatching -orphanet.ordo:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref UMLS:C0030804 semapv:UnspecifiedMatching -orphanet.ordo:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref ICD10:L12.3 semapv:UnspecifiedMatching -orphanet.ordo:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref MedDRA:10056508 semapv:UnspecifiedMatching -orphanet.ordo:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS:C0079293 semapv:UnspecifiedMatching -orphanet.ordo:46488 Linear IgA dermatosis oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching -orphanet.ordo:46488 Linear IgA dermatosis oboInOwl:hasDbXref MedDRA:10024515 semapv:UnspecifiedMatching -orphanet.ordo:46488 Linear IgA dermatosis oboInOwl:hasDbXref UMLS:C0406650 semapv:UnspecifiedMatching -orphanet.ordo:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref OMIM:613329 semapv:UnspecifiedMatching -orphanet.ordo:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref UMLS:C2750067 semapv:UnspecifiedMatching -orphanet.ordo:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching -orphanet.ordo:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching -orphanet.ordo:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:142335 semapv:UnspecifiedMatching -orphanet.ordo:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:142470 semapv:UnspecifiedMatching -orphanet.ordo:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:305435 semapv:UnspecifiedMatching -orphanet.ordo:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:613566 semapv:UnspecifiedMatching -orphanet.ordo:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref OMIM:235200 semapv:UnspecifiedMatching -orphanet.ordo:465824 Fetal encasement syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:465824 Fetal encasement syndrome oboInOwl:hasDbXref OMIM:613630 semapv:UnspecifiedMatching -orphanet.ordo:466 Fatal familial insomnia oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching -orphanet.ordo:466 Fatal familial insomnia oboInOwl:hasDbXref MESH:D034062 semapv:UnspecifiedMatching -orphanet.ordo:466 Fatal familial insomnia oboInOwl:hasDbXref MeSH:D034062 semapv:UnspecifiedMatching -orphanet.ordo:466 Fatal familial insomnia oboInOwl:hasDbXref MedDRA:10072077 semapv:UnspecifiedMatching -orphanet.ordo:466 Fatal familial insomnia oboInOwl:hasDbXref OMIM:600072 semapv:UnspecifiedMatching -orphanet.ordo:466 Fatal familial insomnia oboInOwl:hasDbXref UMLS:C0206042 semapv:UnspecifiedMatching -orphanet.ordo:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching -orphanet.ordo:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:300908 semapv:UnspecifiedMatching -orphanet.ordo:46627 Char syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:46627 Char syndrome oboInOwl:hasDbXref MESH:C538076 semapv:UnspecifiedMatching -orphanet.ordo:46627 Char syndrome oboInOwl:hasDbXref MeSH:C538076 semapv:UnspecifiedMatching -orphanet.ordo:46627 Char syndrome oboInOwl:hasDbXref OMIM:169100 semapv:UnspecifiedMatching -orphanet.ordo:46627 Char syndrome oboInOwl:hasDbXref UMLS:C1868570 semapv:UnspecifiedMatching -orphanet.ordo:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching -orphanet.ordo:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching -orphanet.ordo:466670 Cyanide poisoning oboInOwl:hasDbXref ICD10:T65.0 semapv:UnspecifiedMatching -orphanet.ordo:466673 NON RARE IN EUROPE: Post-herpetic neuralgia oboInOwl:hasDbXref ICD10:G53.0 semapv:UnspecifiedMatching -orphanet.ordo:466677 Scorpion envenomation oboInOwl:hasDbXref ICD10:T63.2 semapv:UnspecifiedMatching -orphanet.ordo:466682 Euthyroid Graves orbitopathy oboInOwl:hasDbXref ICD10:H05.2 semapv:UnspecifiedMatching -orphanet.ordo:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:616819 semapv:UnspecifiedMatching -orphanet.ordo:466695 Supratip dysplasia oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching -orphanet.ordo:466703 TMEM199-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:466703 TMEM199-CDG oboInOwl:hasDbXref OMIM:616829 semapv:UnspecifiedMatching -orphanet.ordo:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref OMIM:617111 semapv:UnspecifiedMatching -orphanet.ordo:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref OMIM:617046 semapv:UnspecifiedMatching -orphanet.ordo:466729 Familial patent arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching -orphanet.ordo:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:607411 semapv:UnspecifiedMatching -orphanet.ordo:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:617035 semapv:UnspecifiedMatching -orphanet.ordo:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:617039 semapv:UnspecifiedMatching -orphanet.ordo:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref OMIM:616688 semapv:UnspecifiedMatching -orphanet.ordo:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref OMIM:616668 semapv:UnspecifiedMatching -orphanet.ordo:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref OMIM:616794 semapv:UnspecifiedMatching -orphanet.ordo:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref OMIM:300967 semapv:UnspecifiedMatching -orphanet.ordo:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref OMIM:616719 semapv:UnspecifiedMatching -orphanet.ordo:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:616913 semapv:UnspecifiedMatching -orphanet.ordo:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:619130 semapv:UnspecifiedMatching -orphanet.ordo:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref OMIM:616682 semapv:UnspecifiedMatching -orphanet.ordo:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616683 semapv:UnspecifiedMatching -orphanet.ordo:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching -orphanet.ordo:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching -orphanet.ordo:466962 SMARCA4-deficient sarcoma of thorax oboInOwl:hasDbXref ICD10:C49.3 semapv:UnspecifiedMatching -orphanet.ordo:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref OMIM:616816 semapv:UnspecifiedMatching -orphanet.ordo:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -orphanet.ordo:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref MESH:D002538 semapv:UnspecifiedMatching -orphanet.ordo:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref MeSH:D002538 semapv:UnspecifiedMatching -orphanet.ordo:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref OMIM:108010 semapv:UnspecifiedMatching -orphanet.ordo:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref UMLS:C0917804 semapv:UnspecifiedMatching -orphanet.ordo:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref OMIM:617171 semapv:UnspecifiedMatching -orphanet.ordo:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref OMIM:614833 semapv:UnspecifiedMatching -orphanet.ordo:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching -orphanet.ordo:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref UMLS:C4302263 semapv:UnspecifiedMatching -orphanet.ordo:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching -orphanet.ordo:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref OMIM:616451 semapv:UnspecifiedMatching -orphanet.ordo:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref OMIM:106190 semapv:UnspecifiedMatching -orphanet.ordo:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref OMIM:602499 semapv:UnspecifiedMatching -orphanet.ordo:468678 White-Sutton syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:468678 White-Sutton syndrome oboInOwl:hasDbXref OMIM:616364 semapv:UnspecifiedMatching -orphanet.ordo:468684 CCDC115-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:468684 CCDC115-CDG oboInOwl:hasDbXref OMIM:616828 semapv:UnspecifiedMatching -orphanet.ordo:468699 SLC39A8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:468699 SLC39A8-CDG oboInOwl:hasDbXref OMIM:616721 semapv:UnspecifiedMatching -orphanet.ordo:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching -orphanet.ordo:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref OMIM:602079 semapv:UnspecifiedMatching -orphanet.ordo:469 Hereditary fructose intolerance oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching -orphanet.ordo:469 Hereditary fructose intolerance oboInOwl:hasDbXref MESH:D005633 semapv:UnspecifiedMatching -orphanet.ordo:469 Hereditary fructose intolerance oboInOwl:hasDbXref MeSH:D005633 semapv:UnspecifiedMatching -orphanet.ordo:469 Hereditary fructose intolerance oboInOwl:hasDbXref MedDRA:10019878 semapv:UnspecifiedMatching -orphanet.ordo:469 Hereditary fructose intolerance oboInOwl:hasDbXref OMIM:229600 semapv:UnspecifiedMatching -orphanet.ordo:469 Hereditary fructose intolerance oboInOwl:hasDbXref UMLS:C0016751 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref MESH:C537409 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref MeSH:C537409 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref MedDRA:10060360 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching -orphanet.ordo:47 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS:C0221026 semapv:UnspecifiedMatching -orphanet.ordo:470 Lysinuric protein intolerance oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:470 Lysinuric protein intolerance oboInOwl:hasDbXref MedDRA:10058300 semapv:UnspecifiedMatching -orphanet.ordo:470 Lysinuric protein intolerance oboInOwl:hasDbXref OMIM:222700 semapv:UnspecifiedMatching -orphanet.ordo:470 Lysinuric protein intolerance oboInOwl:hasDbXref UMLS:C0268647 semapv:UnspecifiedMatching -orphanet.ordo:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 semapv:UnspecifiedMatching -orphanet.ordo:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MeSH:C538614 semapv:UnspecifiedMatching -orphanet.ordo:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching -orphanet.ordo:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C0879257 semapv:UnspecifiedMatching -orphanet.ordo:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching -orphanet.ordo:47045 Familial cold urticaria oboInOwl:hasDbXref MedDRA:10064570 semapv:UnspecifiedMatching -orphanet.ordo:47045 Familial cold urticaria oboInOwl:hasDbXref OMIM:120100 semapv:UnspecifiedMatching -orphanet.ordo:47045 Familial cold urticaria oboInOwl:hasDbXref UMLS:C0343068 semapv:UnspecifiedMatching -orphanet.ordo:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref MedDRA:10037080 semapv:UnspecifiedMatching -orphanet.ordo:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 semapv:UnspecifiedMatching -orphanet.ordo:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:604278 semapv:UnspecifiedMatching -orphanet.ordo:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C0268435 semapv:UnspecifiedMatching -orphanet.ordo:472 Isosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching -orphanet.ordo:472 Isosporiasis oboInOwl:hasDbXref MESH:D021865 semapv:UnspecifiedMatching -orphanet.ordo:472 Isosporiasis oboInOwl:hasDbXref MeSH:D021865 semapv:UnspecifiedMatching -orphanet.ordo:472 Isosporiasis oboInOwl:hasDbXref MedDRA:10023076 semapv:UnspecifiedMatching -orphanet.ordo:472 Isosporiasis oboInOwl:hasDbXref UMLS:C0311386 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref MESH:C537571 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref MeSH:C537571 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref MedDRA:10057621 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:208500 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:611263 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:613819 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:614376 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:616300 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:617088 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref OMIM:619479 semapv:UnspecifiedMatching -orphanet.ordo:474 Jeune syndrome oboInOwl:hasDbXref UMLS:C0265275 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:213300 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:608091 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:608629 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:610188 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:610688 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:612285 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:612291 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614173 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614464 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614465 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614615 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614815 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614970 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:615636 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:615665 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616490 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616654 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616781 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616784 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617120 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617121 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617622 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617757 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617761 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617767 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:618161 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:618763 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619185 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619476 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619562 semapv:UnspecifiedMatching -orphanet.ordo:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619582 semapv:UnspecifiedMatching -orphanet.ordo:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:616812 semapv:UnspecifiedMatching -orphanet.ordo:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:301074 semapv:UnspecifiedMatching -orphanet.ordo:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:616744 semapv:UnspecifiedMatching -orphanet.ordo:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref OMIM:616740 semapv:UnspecifiedMatching -orphanet.ordo:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:47612 Felty syndrome oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching -orphanet.ordo:47612 Felty syndrome oboInOwl:hasDbXref MESH:D005258 semapv:UnspecifiedMatching -orphanet.ordo:47612 Felty syndrome oboInOwl:hasDbXref MeSH:D005258 semapv:UnspecifiedMatching -orphanet.ordo:47612 Felty syndrome oboInOwl:hasDbXref MedDRA:10016386 semapv:UnspecifiedMatching -orphanet.ordo:47612 Felty syndrome oboInOwl:hasDbXref OMIM:134750 semapv:UnspecifiedMatching -orphanet.ordo:47612 Felty syndrome oboInOwl:hasDbXref UMLS:C0015773 semapv:UnspecifiedMatching -orphanet.ordo:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref OMIM:617061 semapv:UnspecifiedMatching -orphanet.ordo:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:618279 semapv:UnspecifiedMatching -orphanet.ordo:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:477 KID syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:477 KID syndrome oboInOwl:hasDbXref MedDRA:10048786 semapv:UnspecifiedMatching -orphanet.ordo:477 KID syndrome oboInOwl:hasDbXref OMIM:148210 semapv:UnspecifiedMatching -orphanet.ordo:477 KID syndrome oboInOwl:hasDbXref OMIM:242150 semapv:UnspecifiedMatching -orphanet.ordo:477 KID syndrome oboInOwl:hasDbXref OMIM:602540 semapv:UnspecifiedMatching -orphanet.ordo:477 KID syndrome oboInOwl:hasDbXref UMLS:C0265336 semapv:UnspecifiedMatching -orphanet.ordo:477650 Fibroblastic rheumatism oboInOwl:hasDbXref ICD10:M06.4 semapv:UnspecifiedMatching -orphanet.ordo:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref OMIM:615767 semapv:UnspecifiedMatching -orphanet.ordo:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616281 semapv:UnspecifiedMatching -orphanet.ordo:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref OMIM:616539 semapv:UnspecifiedMatching -orphanet.ordo:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching -orphanet.ordo:477742 Nodular fasciitis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching -orphanet.ordo:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref OMIM:618564 semapv:UnspecifiedMatching -orphanet.ordo:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref OMIM:616672 semapv:UnspecifiedMatching -orphanet.ordo:477781 Primary condylar hyperplasia oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching -orphanet.ordo:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref OMIM:618372 semapv:UnspecifiedMatching -orphanet.ordo:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref OMIM:616632 semapv:UnspecifiedMatching -orphanet.ordo:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref OMIM:616652 semapv:UnspecifiedMatching -orphanet.ordo:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref OMIM:616592 semapv:UnspecifiedMatching -orphanet.ordo:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref OMIM:616622 semapv:UnspecifiedMatching -orphanet.ordo:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref OMIM:616728 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref MeSH:D017436 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref MedDRA:10053142 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:308700 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:610628 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:612370 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:612702 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614837 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614838 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614880 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614897 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615267 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615269 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615270 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615271 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:616030 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:618841 semapv:UnspecifiedMatching -orphanet.ordo:478 Kallmann syndrome oboInOwl:hasDbXref UMLS:C0162809 semapv:UnspecifiedMatching -orphanet.ordo:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref OMIM:616811 semapv:UnspecifiedMatching -orphanet.ordo:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref OMIM:616974 semapv:UnspecifiedMatching -orphanet.ordo:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref OMIM:617228 semapv:UnspecifiedMatching -orphanet.ordo:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref OMIM:616488 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref ICD10:Q55.4 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MESH:C535984 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MeSH:C535984 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MedDRA:10010670 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:277180 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:300985 semapv:UnspecifiedMatching -orphanet.ordo:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref UMLS:C0403814 semapv:UnspecifiedMatching -orphanet.ordo:480 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching -orphanet.ordo:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 semapv:UnspecifiedMatching -orphanet.ordo:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MeSH:D007625 semapv:UnspecifiedMatching -orphanet.ordo:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MedDRA:10048804 semapv:UnspecifiedMatching -orphanet.ordo:480 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 semapv:UnspecifiedMatching -orphanet.ordo:480 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS:C0022541 semapv:UnspecifiedMatching -orphanet.ordo:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching -orphanet.ordo:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching -orphanet.ordo:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:480501 Choledochal cyst oboInOwl:hasDbXref ICD10:Q44.4 semapv:UnspecifiedMatching -orphanet.ordo:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref ICD10:K80.3 semapv:UnspecifiedMatching -orphanet.ordo:480512 Idiopathic ductopenia oboInOwl:hasDbXref ICD10:K83.8 semapv:UnspecifiedMatching -orphanet.ordo:480520 Caroli syndrome oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching -orphanet.ordo:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref ICD10:K76.4 semapv:UnspecifiedMatching -orphanet.ordo:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:480531 Congenital portosystemic shunt oboInOwl:hasDbXref ICD10:Q26.5 semapv:UnspecifiedMatching -orphanet.ordo:480531 Congenital portosystemic shunt oboInOwl:hasDbXref UMLS:C1290495 semapv:UnspecifiedMatching -orphanet.ordo:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching -orphanet.ordo:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:480553 Aneurysmal bone cyst oboInOwl:hasDbXref ICD10:M85.5 semapv:UnspecifiedMatching -orphanet.ordo:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching -orphanet.ordo:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref OMIM:617232 semapv:UnspecifiedMatching -orphanet.ordo:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref OMIM:616937 semapv:UnspecifiedMatching -orphanet.ordo:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616878 semapv:UnspecifiedMatching -orphanet.ordo:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability oboInOwl:hasDbXref OMIM:300968 semapv:UnspecifiedMatching -orphanet.ordo:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref OMIM:616875 semapv:UnspecifiedMatching -orphanet.ordo:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref OMIM:300966 semapv:UnspecifiedMatching -orphanet.ordo:481 Kennedy disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:481 Kennedy disease oboInOwl:hasDbXref MedDRA:10068600 semapv:UnspecifiedMatching -orphanet.ordo:481 Kennedy disease oboInOwl:hasDbXref OMIM:313200 semapv:UnspecifiedMatching -orphanet.ordo:481 Kennedy disease oboInOwl:hasDbXref UMLS:C1839259 semapv:UnspecifiedMatching -orphanet.ordo:48104 Pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching -orphanet.ordo:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MESH:D017511 semapv:UnspecifiedMatching -orphanet.ordo:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MeSH:D017511 semapv:UnspecifiedMatching -orphanet.ordo:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MedDRA:10037635 semapv:UnspecifiedMatching -orphanet.ordo:48104 Pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C0085652 semapv:UnspecifiedMatching -orphanet.ordo:481152 PYCR2-related microcephaly-progressive leukoencephalopathy oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:481152 PYCR2-related microcephaly-progressive leukoencephalopathy oboInOwl:hasDbXref OMIM:616420 semapv:UnspecifiedMatching -orphanet.ordo:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref MedDRA:10065580 semapv:UnspecifiedMatching -orphanet.ordo:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref UMLS:C1695985 semapv:UnspecifiedMatching -orphanet.ordo:481662 Familial Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching -orphanet.ordo:481662 Familial Chilblain lupus oboInOwl:hasDbXref OMIM:610448 semapv:UnspecifiedMatching -orphanet.ordo:481662 Familial Chilblain lupus oboInOwl:hasDbXref OMIM:614415 semapv:UnspecifiedMatching -orphanet.ordo:481665 USP18 deficiency oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:481665 USP18 deficiency oboInOwl:hasDbXref OMIM:617397 semapv:UnspecifiedMatching -orphanet.ordo:481986 Familial schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching -orphanet.ordo:481986 Familial schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMatching -orphanet.ordo:482 Kimura disease oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching -orphanet.ordo:482 Kimura disease oboInOwl:hasDbXref MESH:D000796 semapv:UnspecifiedMatching -orphanet.ordo:482 Kimura disease oboInOwl:hasDbXref MeSH:D000796 semapv:UnspecifiedMatching -orphanet.ordo:482 Kimura disease oboInOwl:hasDbXref MedDRA:10048640 semapv:UnspecifiedMatching -orphanet.ordo:482 Kimura disease oboInOwl:hasDbXref UMLS:C0033838 semapv:UnspecifiedMatching -orphanet.ordo:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref OMIM:616779 semapv:UnspecifiedMatching -orphanet.ordo:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref OMIM:617030 semapv:UnspecifiedMatching -orphanet.ordo:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching -orphanet.ordo:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref UMLS:C0272340 semapv:UnspecifiedMatching -orphanet.ordo:48372 Nodular regenerative hyperplasia of the liver oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10:L13.1 semapv:UnspecifiedMatching -orphanet.ordo:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref MedDRA:10042342 semapv:UnspecifiedMatching -orphanet.ordo:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS:C0600336 semapv:UnspecifiedMatching -orphanet.ordo:484 NON RARE IN EUROPE: Klinefelter syndrome oboInOwl:hasDbXref ICD10:Q98.0 semapv:UnspecifiedMatching -orphanet.ordo:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref OMIM:604168 semapv:UnspecifiedMatching -orphanet.ordo:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1858726 semapv:UnspecifiedMatching -orphanet.ordo:48435 Postinfectious vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching -orphanet.ordo:48471 Lissencephaly oboInOwl:hasDbXref MESH:D054082 semapv:UnspecifiedMatching -orphanet.ordo:48471 Lissencephaly oboInOwl:hasDbXref MeSH:D054082 semapv:UnspecifiedMatching -orphanet.ordo:48471 Lissencephaly oboInOwl:hasDbXref MedDRA:10048911 semapv:UnspecifiedMatching -orphanet.ordo:48471 Lissencephaly oboInOwl:hasDbXref UMLS:C0266463 semapv:UnspecifiedMatching -orphanet.ordo:485 Kniest dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:485 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 semapv:UnspecifiedMatching -orphanet.ordo:485 Kniest dysplasia oboInOwl:hasDbXref MeSH:C537207 semapv:UnspecifiedMatching -orphanet.ordo:485 Kniest dysplasia oboInOwl:hasDbXref OMIM:156550 semapv:UnspecifiedMatching -orphanet.ordo:485 Kniest dysplasia oboInOwl:hasDbXref UMLS:C0265279 semapv:UnspecifiedMatching -orphanet.ordo:485275 Acquired schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching -orphanet.ordo:485275 Acquired schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMatching -orphanet.ordo:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:F78.1 semapv:UnspecifiedMatching -orphanet.ordo:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:300114 semapv:UnspecifiedMatching -orphanet.ordo:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching -orphanet.ordo:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref ICD10:Q93.7 semapv:UnspecifiedMatching -orphanet.ordo:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching -orphanet.ordo:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching -orphanet.ordo:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:202700 semapv:UnspecifiedMatching -orphanet.ordo:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:257100 semapv:UnspecifiedMatching -orphanet.ordo:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:613107 semapv:UnspecifiedMatching -orphanet.ordo:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:618752 semapv:UnspecifiedMatching -orphanet.ordo:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:619813 semapv:UnspecifiedMatching -orphanet.ordo:48652 Monosomy 22q13.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:48652 Monosomy 22q13.3 oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching -orphanet.ordo:48652 Monosomy 22q13.3 oboInOwl:hasDbXref UMLS:C1853490 semapv:UnspecifiedMatching -orphanet.ordo:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching -orphanet.ordo:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616866 semapv:UnspecifiedMatching -orphanet.ordo:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616867 semapv:UnspecifiedMatching -orphanet.ordo:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref OMIM:617066 semapv:UnspecifiedMatching -orphanet.ordo:48686 Primary effusion lymphoma oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching -orphanet.ordo:48686 Primary effusion lymphoma oboInOwl:hasDbXref MESH:D054685 semapv:UnspecifiedMatching -orphanet.ordo:48686 Primary effusion lymphoma oboInOwl:hasDbXref MeSH:D054685 semapv:UnspecifiedMatching -orphanet.ordo:48686 Primary effusion lymphoma oboInOwl:hasDbXref MedDRA:10065857 semapv:UnspecifiedMatching -orphanet.ordo:48686 Primary effusion lymphoma oboInOwl:hasDbXref UMLS:C1292753 semapv:UnspecifiedMatching -orphanet.ordo:487 Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:487 Krabbe disease oboInOwl:hasDbXref MedDRA:10023492 semapv:UnspecifiedMatching -orphanet.ordo:487 Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching -orphanet.ordo:487 Krabbe disease oboInOwl:hasDbXref OMIM:611722 semapv:UnspecifiedMatching -orphanet.ordo:487 Krabbe disease oboInOwl:hasDbXref UMLS:C0023521 semapv:UnspecifiedMatching -orphanet.ordo:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -orphanet.ordo:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref OMIM:616737 semapv:UnspecifiedMatching -orphanet.ordo:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching -orphanet.ordo:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:487825 Pierpont syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:487825 Pierpont syndrome oboInOwl:hasDbXref OMIM:602342 semapv:UnspecifiedMatching -orphanet.ordo:488 Urachal cyst oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching -orphanet.ordo:488 Urachal cyst oboInOwl:hasDbXref MESH:D014496 semapv:UnspecifiedMatching -orphanet.ordo:488 Urachal cyst oboInOwl:hasDbXref MeSH:D014496 semapv:UnspecifiedMatching -orphanet.ordo:488 Urachal cyst oboInOwl:hasDbXref MedDRA:10065375 semapv:UnspecifiedMatching -orphanet.ordo:488 Urachal cyst oboInOwl:hasDbXref UMLS:C0041915 semapv:UnspecifiedMatching -orphanet.ordo:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref OMIM:616834 semapv:UnspecifiedMatching -orphanet.ordo:48818 Aceruloplasminemia oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:48818 Aceruloplasminemia oboInOwl:hasDbXref MESH:C536004 semapv:UnspecifiedMatching -orphanet.ordo:48818 Aceruloplasminemia oboInOwl:hasDbXref MeSH:C536004 semapv:UnspecifiedMatching -orphanet.ordo:48818 Aceruloplasminemia oboInOwl:hasDbXref OMIM:604290 semapv:UnspecifiedMatching -orphanet.ordo:48818 Aceruloplasminemia oboInOwl:hasDbXref UMLS:C0878682 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:616780 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:617743 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619009 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619011 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619176 semapv:UnspecifiedMatching -orphanet.ordo:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:620154 semapv:UnspecifiedMatching -orphanet.ordo:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref OMIM:616722 semapv:UnspecifiedMatching -orphanet.ordo:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching -orphanet.ordo:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:616890 semapv:UnspecifiedMatching -orphanet.ordo:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -orphanet.ordo:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching -orphanet.ordo:488265 Osteofibrous dysplasia oboInOwl:hasDbXref OMIM:607278 semapv:UnspecifiedMatching -orphanet.ordo:488280 14q32 duplication syndrome oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:488280 14q32 duplication syndrome oboInOwl:hasDbXref OMIM:616604 semapv:UnspecifiedMatching -orphanet.ordo:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref OMIM:616625 semapv:UnspecifiedMatching -orphanet.ordo:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref OMIM:611929 semapv:UnspecifiedMatching -orphanet.ordo:488437 SIX2-related frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:488586 Congenital amyoplasia oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref OMIM:616907 semapv:UnspecifiedMatching -orphanet.ordo:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616973 semapv:UnspecifiedMatching -orphanet.ordo:488618 Transketolase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:488618 Transketolase deficiency oboInOwl:hasDbXref OMIM:617044 semapv:UnspecifiedMatching -orphanet.ordo:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617051 semapv:UnspecifiedMatching -orphanet.ordo:488632 TBCK-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:488632 TBCK-related intellectual disability syndrome oboInOwl:hasDbXref OMIM:616900 semapv:UnspecifiedMatching -orphanet.ordo:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref OMIM:616917 semapv:UnspecifiedMatching -orphanet.ordo:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref OMIM:616954 semapv:UnspecifiedMatching -orphanet.ordo:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching -orphanet.ordo:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref OMIM:616871 semapv:UnspecifiedMatching -orphanet.ordo:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching -orphanet.ordo:489 NON RARE IN EUROPE: Thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching -orphanet.ordo:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching -orphanet.ordo:48918 Focal myositis oboInOwl:hasDbXref UMLS:C0751357 semapv:UnspecifiedMatching -orphanet.ordo:49 Penile agenesis oboInOwl:hasDbXref ICD10:Q55.5 semapv:UnspecifiedMatching -orphanet.ordo:49 Penile agenesis oboInOwl:hasDbXref MESH:C536649 semapv:UnspecifiedMatching -orphanet.ordo:49 Penile agenesis oboInOwl:hasDbXref MeSH:C536649 semapv:UnspecifiedMatching -orphanet.ordo:49 Penile agenesis oboInOwl:hasDbXref UMLS:C1387005 semapv:UnspecifiedMatching -orphanet.ordo:490 Omphalomesenteric cyst oboInOwl:hasDbXref ICD10:Q43.0 semapv:UnspecifiedMatching -orphanet.ordo:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref ICD10:K66.2 semapv:UnspecifiedMatching -orphanet.ordo:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref MESH:D012185 semapv:UnspecifiedMatching -orphanet.ordo:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref MeSH:D012185 semapv:UnspecifiedMatching -orphanet.ordo:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref MedDRA:10038979 semapv:UnspecifiedMatching -orphanet.ordo:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref OMIM:228800 semapv:UnspecifiedMatching -orphanet.ordo:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref UMLS:C0035357 semapv:UnspecifiedMatching -orphanet.ordo:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MESH:D003811 semapv:UnspecifiedMatching -orphanet.ordo:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MeSH:D003811 semapv:UnspecifiedMatching -orphanet.ordo:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MedDRA:10054013 semapv:UnspecifiedMatching -orphanet.ordo:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C0011436 semapv:UnspecifiedMatching -orphanet.ordo:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref ICD10:L72.1 semapv:UnspecifiedMatching -orphanet.ordo:493 Familial keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching -orphanet.ordo:493 Familial keratoacanthoma oboInOwl:hasDbXref UMLS:C0546476 semapv:UnspecifiedMatching -orphanet.ordo:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching -orphanet.ordo:493342 Vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref MedDRA:10000454 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref OMIM:216900 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref OMIM:262300 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref OMIM:610024 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613093 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613856 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref OMIM:616517 semapv:UnspecifiedMatching -orphanet.ordo:49382 Achromatopsia oboInOwl:hasDbXref UMLS:C0152200 semapv:UnspecifiedMatching -orphanet.ordo:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref OMIM:124500 semapv:UnspecifiedMatching -orphanet.ordo:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref UMLS:C0265964 semapv:UnspecifiedMatching -orphanet.ordo:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching -orphanet.ordo:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref OMIM:617068 semapv:UnspecifiedMatching -orphanet.ordo:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching -orphanet.ordo:494421 Sacrococcygeal teratoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching -orphanet.ordo:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching -orphanet.ordo:494428 Idiopathic pleuroparenchymal fibroelastosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:494433 MIRAGE syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:494433 MIRAGE syndrome oboInOwl:hasDbXref OMIM:617053 semapv:UnspecifiedMatching -orphanet.ordo:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617763 semapv:UnspecifiedMatching -orphanet.ordo:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:124900 semapv:UnspecifiedMatching -orphanet.ordo:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching -orphanet.ordo:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching -orphanet.ordo:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching -orphanet.ordo:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref OMIM:616921 semapv:UnspecifiedMatching -orphanet.ordo:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching -orphanet.ordo:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref OMIM:616922 semapv:UnspecifiedMatching -orphanet.ordo:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C12 semapv:UnspecifiedMatching -orphanet.ordo:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.0 semapv:UnspecifiedMatching -orphanet.ordo:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.2 semapv:UnspecifiedMatching -orphanet.ordo:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.8 semapv:UnspecifiedMatching -orphanet.ordo:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref ICD10:C32.8 semapv:UnspecifiedMatching -orphanet.ordo:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching -orphanet.ordo:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1851480 semapv:UnspecifiedMatching -orphanet.ordo:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching -orphanet.ordo:49566 Acquired purpura fulminans oboInOwl:hasDbXref ICD10:D65 semapv:UnspecifiedMatching -orphanet.ordo:49566 Acquired purpura fulminans oboInOwl:hasDbXref MESH:D014884 semapv:UnspecifiedMatching -orphanet.ordo:49566 Acquired purpura fulminans oboInOwl:hasDbXref MESH:D055665 semapv:UnspecifiedMatching -orphanet.ordo:49566 Acquired purpura fulminans oboInOwl:hasDbXref MeSH:D014884 semapv:UnspecifiedMatching -orphanet.ordo:49566 Acquired purpura fulminans oboInOwl:hasDbXref MeSH:D055665 semapv:UnspecifiedMatching -orphanet.ordo:49566 Acquired purpura fulminans oboInOwl:hasDbXref MedDRA:10037556 semapv:UnspecifiedMatching -orphanet.ordo:495818 9q33.3q34.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616881 semapv:UnspecifiedMatching -orphanet.ordo:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:495879 Congenital agenesis of the scrotum oboInOwl:hasDbXref ICD10:Q55.2 semapv:UnspecifiedMatching -orphanet.ordo:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:252270 semapv:UnspecifiedMatching -orphanet.ordo:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:619041 semapv:UnspecifiedMatching -orphanet.ordo:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching -orphanet.ordo:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617193 semapv:UnspecifiedMatching -orphanet.ordo:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref UMLS:C5567454 semapv:UnspecifiedMatching -orphanet.ordo:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref OMIM:617114 semapv:UnspecifiedMatching -orphanet.ordo:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref OMIM:609545 semapv:UnspecifiedMatching -orphanet.ordo:496751 EVEN-plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:496751 EVEN-plus syndrome oboInOwl:hasDbXref OMIM:616854 semapv:UnspecifiedMatching -orphanet.ordo:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref OMIM:617207 semapv:UnspecifiedMatching -orphanet.ordo:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref OMIM:617183 semapv:UnspecifiedMatching -orphanet.ordo:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching -orphanet.ordo:497737 Epidermolytic nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching -orphanet.ordo:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching -orphanet.ordo:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref OMIM:617054 semapv:UnspecifiedMatching -orphanet.ordo:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching -orphanet.ordo:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching -orphanet.ordo:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref ICD10:N94.8 semapv:UnspecifiedMatching -orphanet.ordo:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:Q53.1 semapv:UnspecifiedMatching -orphanet.ordo:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 semapv:UnspecifiedMatching -orphanet.ordo:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MeSH:C536510 semapv:UnspecifiedMatching -orphanet.ordo:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 semapv:UnspecifiedMatching -orphanet.ordo:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C0342287 semapv:UnspecifiedMatching -orphanet.ordo:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L85.1 semapv:UnspecifiedMatching -orphanet.ordo:498474 Hyaline fibromatosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:498481 LRP5-related primary osteoporosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref OMIM:608811 semapv:UnspecifiedMatching -orphanet.ordo:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:498494 Mirror-image polydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching -orphanet.ordo:498602 Sugarman brachydactyly oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching -orphanet.ordo:498602 Sugarman brachydactyly oboInOwl:hasDbXref OMIM:272150 semapv:UnspecifiedMatching -orphanet.ordo:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching -orphanet.ordo:499 Kerion celsi oboInOwl:hasDbXref ICD10:B35.0 semapv:UnspecifiedMatching -orphanet.ordo:499 Kerion celsi oboInOwl:hasDbXref MESH:C536165 semapv:UnspecifiedMatching -orphanet.ordo:499 Kerion celsi oboInOwl:hasDbXref MeSH:C536165 semapv:UnspecifiedMatching -orphanet.ordo:499 Kerion celsi oboInOwl:hasDbXref UMLS:C0276742 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.0 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.1 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.2 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.3 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.4 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.5 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.6 semapv:UnspecifiedMatching -orphanet.ordo:499009 Congenital syphilis oboInOwl:hasDbXref UMLS:C0039131 semapv:UnspecifiedMatching -orphanet.ordo:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -orphanet.ordo:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -orphanet.ordo:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -orphanet.ordo:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref ICD10:H05.0 semapv:UnspecifiedMatching -orphanet.ordo:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching -orphanet.ordo:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.4 semapv:UnspecifiedMatching -orphanet.ordo:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609016 semapv:UnspecifiedMatching -orphanet.ordo:50 Aicardi syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching -orphanet.ordo:50 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching -orphanet.ordo:50 Aicardi syndrome oboInOwl:hasDbXref MeSH:D058540 semapv:UnspecifiedMatching -orphanet.ordo:50 Aicardi syndrome oboInOwl:hasDbXref MedDRA:10054935 semapv:UnspecifiedMatching -orphanet.ordo:50 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMatching -orphanet.ordo:50 Aicardi syndrome oboInOwl:hasDbXref UMLS:C0175713 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:C537116 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:D044542 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MeSH:C537116 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MeSH:D044542 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MedDRA:10062901 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:151100 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:611554 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:613707 semapv:UnspecifiedMatching -orphanet.ordo:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref UMLS:C0175704 semapv:UnspecifiedMatching -orphanet.ordo:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching -orphanet.ordo:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref OMIM:617099 semapv:UnspecifiedMatching -orphanet.ordo:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617107 semapv:UnspecifiedMatching -orphanet.ordo:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref OMIM:236500 semapv:UnspecifiedMatching -orphanet.ordo:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome oboInOwl:hasDbXref OMIM:617669 semapv:UnspecifiedMatching -orphanet.ordo:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617140 semapv:UnspecifiedMatching -orphanet.ordo:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom oboInOwl:hasDbXref OMIM:617751 semapv:UnspecifiedMatching -orphanet.ordo:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching -orphanet.ordo:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref OMIM:617672 semapv:UnspecifiedMatching -orphanet.ordo:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching -orphanet.ordo:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:301018 semapv:UnspecifiedMatching -orphanet.ordo:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref ICD10:D02.3 semapv:UnspecifiedMatching -orphanet.ordo:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref ICD10:C10.8 semapv:UnspecifiedMatching -orphanet.ordo:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching -orphanet.ordo:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching -orphanet.ordo:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching -orphanet.ordo:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref OMIM:611087 semapv:UnspecifiedMatching -orphanet.ordo:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref OMIM:617393 semapv:UnspecifiedMatching -orphanet.ordo:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref OMIM:615198 semapv:UnspecifiedMatching -orphanet.ordo:501 Lafora disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:501 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching -orphanet.ordo:501 Lafora disease oboInOwl:hasDbXref MeSH:D020192 semapv:UnspecifiedMatching -orphanet.ordo:501 Lafora disease oboInOwl:hasDbXref MedDRA:10054030 semapv:UnspecifiedMatching -orphanet.ordo:501 Lafora disease oboInOwl:hasDbXref OMIM:254780 semapv:UnspecifiedMatching -orphanet.ordo:501 Lafora disease oboInOwl:hasDbXref UMLS:C0751783 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MESH:C536555 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MeSH:C536555 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MeSH:D015826 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MedDRA:10050638 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref OMIM:150230 semapv:UnspecifiedMatching -orphanet.ordo:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref UMLS:C0023003 semapv:UnspecifiedMatching -orphanet.ordo:502305 Cochleovestibular malformation oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching -orphanet.ordo:502318 Cochlear nerve deficiency oboInOwl:hasDbXref ICD10:H93.3 semapv:UnspecifiedMatching -orphanet.ordo:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching -orphanet.ordo:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 semapv:UnspecifiedMatching -orphanet.ordo:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching -orphanet.ordo:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref OMIM:617675 semapv:UnspecifiedMatching -orphanet.ordo:502430 Metopic ridging-ptosis-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome oboInOwl:hasDbXref OMIM:617635 semapv:UnspecifiedMatching -orphanet.ordo:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref OMIM:617762 semapv:UnspecifiedMatching -orphanet.ordo:502499 Erythema multiforme major oboInOwl:hasDbXref ICD10:L51.8 semapv:UnspecifiedMatching -orphanet.ordo:50251 Pleural mesothelioma oboInOwl:hasDbXref ICD10:C45.0 semapv:UnspecifiedMatching -orphanet.ordo:50251 Pleural mesothelioma oboInOwl:hasDbXref MESH:D008654 semapv:UnspecifiedMatching -orphanet.ordo:50251 Pleural mesothelioma oboInOwl:hasDbXref MeSH:D008654 semapv:UnspecifiedMatching -orphanet.ordo:50251 Pleural mesothelioma oboInOwl:hasDbXref MedDRA:10027406 semapv:UnspecifiedMatching -orphanet.ordo:50251 Pleural mesothelioma oboInOwl:hasDbXref OMIM:156240 semapv:UnspecifiedMatching -orphanet.ordo:50251 Pleural mesothelioma oboInOwl:hasDbXref UMLS:C1377913 semapv:UnspecifiedMatching -orphanet.ordo:503 Larsen syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:503 Larsen syndrome oboInOwl:hasDbXref OMIM:150250 semapv:UnspecifiedMatching -orphanet.ordo:503 Larsen syndrome oboInOwl:hasDbXref UMLS:C0175778 semapv:UnspecifiedMatching -orphanet.ordo:504 Creeping myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching -orphanet.ordo:504 Creeping myiasis oboInOwl:hasDbXref MESH:D007815 semapv:UnspecifiedMatching -orphanet.ordo:504 Creeping myiasis oboInOwl:hasDbXref MeSH:D007815 semapv:UnspecifiedMatching -orphanet.ordo:504 Creeping myiasis oboInOwl:hasDbXref MedDRA:10059547 semapv:UnspecifiedMatching -orphanet.ordo:504 Creeping myiasis oboInOwl:hasDbXref UMLS:C1562462 semapv:UnspecifiedMatching -orphanet.ordo:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref OMIM:614575 semapv:UnspecifiedMatching -orphanet.ordo:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching -orphanet.ordo:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref OMIM:617514 semapv:UnspecifiedMatching -orphanet.ordo:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref OMIM:300988 semapv:UnspecifiedMatching -orphanet.ordo:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching -orphanet.ordo:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching -orphanet.ordo:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref OMIM:617827 semapv:UnspecifiedMatching -orphanet.ordo:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref OMIM:617452 semapv:UnspecifiedMatching -orphanet.ordo:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5568770 semapv:UnspecifiedMatching -orphanet.ordo:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching -orphanet.ordo:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref OMIM:617595 semapv:UnspecifiedMatching -orphanet.ordo:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref OMIM:617303 semapv:UnspecifiedMatching -orphanet.ordo:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref ICD10:J95.8 semapv:UnspecifiedMatching -orphanet.ordo:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching -orphanet.ordo:506 Leigh syndrome oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMatching -orphanet.ordo:506 Leigh syndrome oboInOwl:hasDbXref MeSH:D007888 semapv:UnspecifiedMatching -orphanet.ordo:506 Leigh syndrome oboInOwl:hasDbXref MedDRA:10062950 semapv:UnspecifiedMatching -orphanet.ordo:506 Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching -orphanet.ordo:506 Leigh syndrome oboInOwl:hasDbXref UMLS:C0023264 semapv:UnspecifiedMatching -orphanet.ordo:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching -orphanet.ordo:506090 Serotonin-producing neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching -orphanet.ordo:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching -orphanet.ordo:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching -orphanet.ordo:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching -orphanet.ordo:506307 Stromme syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:506307 Stromme syndrome oboInOwl:hasDbXref OMIM:243605 semapv:UnspecifiedMatching -orphanet.ordo:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref OMIM:617575 semapv:UnspecifiedMatching -orphanet.ordo:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref OMIM:618768 semapv:UnspecifiedMatching -orphanet.ordo:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref OMIM:617557 semapv:UnspecifiedMatching -orphanet.ordo:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.1 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.2 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.9 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref MESH:D007896 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref MeSH:D007896 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref MedDRA:10024198 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:UnspecifiedMatching -orphanet.ordo:507 Leishmaniasis oboInOwl:hasDbXref UMLS:C0023281 semapv:UnspecifiedMatching -orphanet.ordo:508 Leprechaunism oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:508 Leprechaunism oboInOwl:hasDbXref OMIM:246200 semapv:UnspecifiedMatching -orphanet.ordo:508 Leprechaunism oboInOwl:hasDbXref UMLS:C0265344 semapv:UnspecifiedMatching -orphanet.ordo:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref OMIM:609655 semapv:UnspecifiedMatching -orphanet.ordo:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref UMLS:C1864784 semapv:UnspecifiedMatching -orphanet.ordo:508093 MEPAN syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:508093 MEPAN syndrome oboInOwl:hasDbXref OMIM:617282 semapv:UnspecifiedMatching -orphanet.ordo:50810 Microlissencephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref OMIM:608154 semapv:UnspecifiedMatching -orphanet.ordo:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref UMLS:C1842465 semapv:UnspecifiedMatching -orphanet.ordo:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref OMIM:607812 semapv:UnspecifiedMatching -orphanet.ordo:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS:C1843042 semapv:UnspecifiedMatching -orphanet.ordo:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref OMIM:609166 semapv:UnspecifiedMatching -orphanet.ordo:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref UMLS:C1836673 semapv:UnspecifiedMatching -orphanet.ordo:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref OMIM:607944 semapv:UnspecifiedMatching -orphanet.ordo:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref UMLS:C1842763 semapv:UnspecifiedMatching -orphanet.ordo:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref UMLS:C4302550 semapv:UnspecifiedMatching -orphanet.ordo:50838 NON RARE IN EUROPE: Carpal tunnel syndrome oboInOwl:hasDbXref ICD10:G56.0 semapv:UnspecifiedMatching -orphanet.ordo:50839 Cat-scratch disease oboInOwl:hasDbXref ICD10:A28.1 semapv:UnspecifiedMatching -orphanet.ordo:50839 Cat-scratch disease oboInOwl:hasDbXref MESH:D002372 semapv:UnspecifiedMatching -orphanet.ordo:50839 Cat-scratch disease oboInOwl:hasDbXref MeSH:D002372 semapv:UnspecifiedMatching -orphanet.ordo:50839 Cat-scratch disease oboInOwl:hasDbXref MedDRA:10007729 semapv:UnspecifiedMatching -orphanet.ordo:50839 Cat-scratch disease oboInOwl:hasDbXref UMLS:C0007361 semapv:UnspecifiedMatching -orphanet.ordo:508410 Familial intestinal malrotation oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching -orphanet.ordo:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:508488 8q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:508488 8q24.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:615583 semapv:UnspecifiedMatching -orphanet.ordo:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome oboInOwl:hasDbXref OMIM:615583 semapv:UnspecifiedMatching -orphanet.ordo:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref OMIM:617927 semapv:UnspecifiedMatching -orphanet.ordo:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref OMIM:618097 semapv:UnspecifiedMatching -orphanet.ordo:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref OMIM:617384 semapv:UnspecifiedMatching -orphanet.ordo:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref OMIM:617294 semapv:UnspecifiedMatching -orphanet.ordo:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.0 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.8 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.9 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref MESH:D007922 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref MeSH:D007922 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref MedDRA:10024238 semapv:UnspecifiedMatching -orphanet.ordo:509 Leptospirosis oboInOwl:hasDbXref UMLS:C0023364 semapv:UnspecifiedMatching -orphanet.ordo:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching -orphanet.ordo:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref UMLS:C0398367 semapv:UnspecifiedMatching -orphanet.ordo:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching -orphanet.ordo:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:607654 semapv:UnspecifiedMatching -orphanet.ordo:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:612908 semapv:UnspecifiedMatching -orphanet.ordo:50943 Keratolytic winter erythema oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching -orphanet.ordo:50943 Keratolytic winter erythema oboInOwl:hasDbXref MESH:C536155 semapv:UnspecifiedMatching -orphanet.ordo:50943 Keratolytic winter erythema oboInOwl:hasDbXref MeSH:C536155 semapv:UnspecifiedMatching -orphanet.ordo:50943 Keratolytic winter erythema oboInOwl:hasDbXref OMIM:148370 semapv:UnspecifiedMatching -orphanet.ordo:50943 Keratolytic winter erythema oboInOwl:hasDbXref UMLS:C0406756 semapv:UnspecifiedMatching -orphanet.ordo:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 semapv:UnspecifiedMatching -orphanet.ordo:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS:C1857069 semapv:UnspecifiedMatching -orphanet.ordo:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref MESH:C537914 semapv:UnspecifiedMatching -orphanet.ordo:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref MeSH:C537914 semapv:UnspecifiedMatching -orphanet.ordo:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref OMIM:215045 semapv:UnspecifiedMatching -orphanet.ordo:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref UMLS:C1859148 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref MESH:C535607 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref MeSH:C535607 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:225750 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610181 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610329 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610333 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:612952 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615010 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615846 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:619486 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:619487 semapv:UnspecifiedMatching -orphanet.ordo:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref UMLS:C0393591 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10:E79.1 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MeSH:D007926 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MedDRA:10057589 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:300322 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:308950 semapv:UnspecifiedMatching -orphanet.ordo:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS:C0023374 semapv:UnspecifiedMatching -orphanet.ordo:51083 Familial short QT syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609620 semapv:UnspecifiedMatching -orphanet.ordo:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609621 semapv:UnspecifiedMatching -orphanet.ordo:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609622 semapv:UnspecifiedMatching -orphanet.ordo:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:620231 semapv:UnspecifiedMatching -orphanet.ordo:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref OMIM:613600 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref MeSH:D008375 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref MedDRA:10026817 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching -orphanet.ordo:511 Maple syrup urine disease oboInOwl:hasDbXref UMLS:C0024776 semapv:UnspecifiedMatching -orphanet.ordo:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref MESH:C535737 semapv:UnspecifiedMatching -orphanet.ordo:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref MeSH:C535737 semapv:UnspecifiedMatching -orphanet.ordo:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref OMIM:602473 semapv:UnspecifiedMatching -orphanet.ordo:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS:C1865349 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MESH:C538597 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MeSH:C538597 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MeSH:D007966 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MedDRA:10067609 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:156310 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching -orphanet.ordo:512 Metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C0023522 semapv:UnspecifiedMatching -orphanet.ordo:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching -orphanet.ordo:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching -orphanet.ordo:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref UMLS:C0268609 semapv:UnspecifiedMatching -orphanet.ordo:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:247640 semapv:UnspecifiedMatching -orphanet.ordo:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:613065 semapv:UnspecifiedMatching -orphanet.ordo:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:613067 semapv:UnspecifiedMatching -orphanet.ordo:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0023449 semapv:UnspecifiedMatching -orphanet.ordo:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref OMIM:617225 semapv:UnspecifiedMatching -orphanet.ordo:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617616 semapv:UnspecifiedMatching -orphanet.ordo:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching -orphanet.ordo:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching -orphanet.ordo:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MeSH:D007948 semapv:UnspecifiedMatching -orphanet.ordo:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MedDRA:10000871 semapv:UnspecifiedMatching -orphanet.ordo:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MedDRA:10059439 semapv:UnspecifiedMatching -orphanet.ordo:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:51577 Cobblestone lissencephaly oboInOwl:hasDbXref UMLS:C0431376 semapv:UnspecifiedMatching -orphanet.ordo:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching -orphanet.ordo:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 semapv:UnspecifiedMatching -orphanet.ordo:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref MeSH:C537440 semapv:UnspecifiedMatching -orphanet.ordo:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching -orphanet.ordo:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 semapv:UnspecifiedMatching -orphanet.ordo:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref UMLS:C1859727 semapv:UnspecifiedMatching -orphanet.ordo:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:51636 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching -orphanet.ordo:51636 WHIM syndrome oboInOwl:hasDbXref MeSH:C536697 semapv:UnspecifiedMatching -orphanet.ordo:51636 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching -orphanet.ordo:51636 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching -orphanet.ordo:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching -orphanet.ordo:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015479 semapv:UnspecifiedMatching -orphanet.ordo:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MeSH:D015479 semapv:UnspecifiedMatching -orphanet.ordo:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10000890 semapv:UnspecifiedMatching -orphanet.ordo:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023479 semapv:UnspecifiedMatching -orphanet.ordo:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -orphanet.ordo:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref UMLS:C0023462 semapv:UnspecifiedMatching -orphanet.ordo:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G58.0 semapv:UnspecifiedMatching -orphanet.ordo:519 Acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:519 Acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching -orphanet.ordo:519 Acute myeloid leukemia oboInOwl:hasDbXref MeSH:D015470 semapv:UnspecifiedMatching -orphanet.ordo:519 Acute myeloid leukemia oboInOwl:hasDbXref MedDRA:10000880 semapv:UnspecifiedMatching -orphanet.ordo:519 Acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:519 Acute myeloid leukemia oboInOwl:hasDbXref UMLS:C1879321 semapv:UnspecifiedMatching -orphanet.ordo:519384 Congenital cystic eye oboInOwl:hasDbXref ICD10:Q11.0 semapv:UnspecifiedMatching -orphanet.ordo:519386 Isolated congenital entropion oboInOwl:hasDbXref ICD10:Q10.2 semapv:UnspecifiedMatching -orphanet.ordo:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching -orphanet.ordo:519390 Isolated blepharochalasis oboInOwl:hasDbXref ICD10:H02.3 semapv:UnspecifiedMatching -orphanet.ordo:519392 Isolated iridoschisis oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching -orphanet.ordo:519396 Isolated microspherophakia oboInOwl:hasDbXref ICD10:Q12.4 semapv:UnspecifiedMatching -orphanet.ordo:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching -orphanet.ordo:519400 Peripapillary staphyloma oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching -orphanet.ordo:519402 Isolated megalopapilla oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching -orphanet.ordo:519404 Optic disc pit oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching -orphanet.ordo:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref ICD10:H16.1 semapv:UnspecifiedMatching -orphanet.ordo:519408 Mooren ulcer oboInOwl:hasDbXref ICD10:H16.0 semapv:UnspecifiedMatching -orphanet.ordo:519410 Terrien marginal degeneration oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching -orphanet.ordo:519930 Fungal keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref MESH:D016738 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref MeSH:D016738 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref MedDRA:10053870 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching -orphanet.ordo:52 Alagille syndrome oboInOwl:hasDbXref UMLS:C0085280 semapv:UnspecifiedMatching -orphanet.ordo:520 Acute promyelocytic leukemia oboInOwl:hasDbXref ICD10:C92.4 semapv:UnspecifiedMatching -orphanet.ordo:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MESH:D015473 semapv:UnspecifiedMatching -orphanet.ordo:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MeSH:D015473 semapv:UnspecifiedMatching -orphanet.ordo:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MedDRA:10001019 semapv:UnspecifiedMatching -orphanet.ordo:520 Acute promyelocytic leukemia oboInOwl:hasDbXref OMIM:612376 semapv:UnspecifiedMatching -orphanet.ordo:520 Acute promyelocytic leukemia oboInOwl:hasDbXref UMLS:C0023487 semapv:UnspecifiedMatching -orphanet.ordo:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:UnspecifiedMatching -orphanet.ordo:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref MeSH:C538356 semapv:UnspecifiedMatching -orphanet.ordo:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching -orphanet.ordo:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS:C1832588 semapv:UnspecifiedMatching -orphanet.ordo:52047 Braddock syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:52047 Braddock syndrome oboInOwl:hasDbXref OMIM:608406 semapv:UnspecifiedMatching -orphanet.ordo:52047 Braddock syndrome oboInOwl:hasDbXref UMLS:C1842082 semapv:UnspecifiedMatching -orphanet.ordo:52054 Craniosynostosis-intracranial calcifications syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:52054 Craniosynostosis-intracranial calcifications syndrome oboInOwl:hasDbXref OMIM:608432 semapv:UnspecifiedMatching -orphanet.ordo:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref OMIM:300472 semapv:UnspecifiedMatching -orphanet.ordo:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref UMLS:C1845446 semapv:UnspecifiedMatching -orphanet.ordo:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref OMIM:608571 semapv:UnspecifiedMatching -orphanet.ordo:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1837830 semapv:UnspecifiedMatching -orphanet.ordo:521 Chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.1 semapv:UnspecifiedMatching -orphanet.ordo:521 Chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10009013 semapv:UnspecifiedMatching -orphanet.ordo:521 Chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching -orphanet.ordo:521 Chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0023473 semapv:UnspecifiedMatching -orphanet.ordo:521123 Radiation-induced plexopathy oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching -orphanet.ordo:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching -orphanet.ordo:521219 Mirizzi syndrome oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching -orphanet.ordo:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching -orphanet.ordo:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref OMIM:300979 semapv:UnspecifiedMatching -orphanet.ordo:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching -orphanet.ordo:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref OMIM:600706 semapv:UnspecifiedMatching -orphanet.ordo:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref OMIM:617296 semapv:UnspecifiedMatching -orphanet.ordo:521399 NON RARE IN EUROPE: Non rare obesity oboInOwl:hasDbXref ICD10:E66.0 semapv:UnspecifiedMatching -orphanet.ordo:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching -orphanet.ordo:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:617013 semapv:UnspecifiedMatching -orphanet.ordo:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref OMIM:618036 semapv:UnspecifiedMatching -orphanet.ordo:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref OMIM:617527 semapv:UnspecifiedMatching -orphanet.ordo:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching -orphanet.ordo:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617660 semapv:UnspecifiedMatching -orphanet.ordo:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617661 semapv:UnspecifiedMatching -orphanet.ordo:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref OMIM:618845 semapv:UnspecifiedMatching -orphanet.ordo:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref UMLS:C5680183 semapv:UnspecifiedMatching -orphanet.ordo:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching -orphanet.ordo:52183 Premature chromosome condensation with microcephaly and intellectual disability oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref OMIM:618218 semapv:UnspecifiedMatching -orphanet.ordo:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref OMIM:150800 semapv:UnspecifiedMatching -orphanet.ordo:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref UMLS:C1708350 semapv:UnspecifiedMatching -orphanet.ordo:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref MESH:C535808 semapv:UnspecifiedMatching -orphanet.ordo:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref MeSH:C535808 semapv:UnspecifiedMatching -orphanet.ordo:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching -orphanet.ordo:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref UMLS:C0796074 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref ICD10:C97 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MeSH:D016864 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MedDRA:10066795 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:151623 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:609265 semapv:UnspecifiedMatching -orphanet.ordo:524 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS:C0085390 semapv:UnspecifiedMatching -orphanet.ordo:52416 Mantle cell lymphoma oboInOwl:hasDbXref ICD10:C83.1 semapv:UnspecifiedMatching -orphanet.ordo:52416 Mantle cell lymphoma oboInOwl:hasDbXref MESH:D020522 semapv:UnspecifiedMatching -orphanet.ordo:52416 Mantle cell lymphoma oboInOwl:hasDbXref MeSH:D020522 semapv:UnspecifiedMatching -orphanet.ordo:52416 Mantle cell lymphoma oboInOwl:hasDbXref MedDRA:10061275 semapv:UnspecifiedMatching -orphanet.ordo:52416 Mantle cell lymphoma oboInOwl:hasDbXref UMLS:C0555202 semapv:UnspecifiedMatching -orphanet.ordo:52417 MALT lymphoma oboInOwl:hasDbXref ICD10:C88.4 semapv:UnspecifiedMatching -orphanet.ordo:52417 MALT lymphoma oboInOwl:hasDbXref MedDRA:10060707 semapv:UnspecifiedMatching -orphanet.ordo:52417 MALT lymphoma oboInOwl:hasDbXref OMIM:137245 semapv:UnspecifiedMatching -orphanet.ordo:52417 MALT lymphoma oboInOwl:hasDbXref UMLS:C0242647 semapv:UnspecifiedMatching -orphanet.ordo:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:52427 Retinitis punctata albescens oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching -orphanet.ordo:52427 Retinitis punctata albescens oboInOwl:hasDbXref UMLS:C1405854 semapv:UnspecifiedMatching -orphanet.ordo:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching -orphanet.ordo:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1847759 semapv:UnspecifiedMatching -orphanet.ordo:52429 Branchiootic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:52429 Branchiootic syndrome oboInOwl:hasDbXref OMIM:120502 semapv:UnspecifiedMatching -orphanet.ordo:52429 Branchiootic syndrome oboInOwl:hasDbXref OMIM:602588 semapv:UnspecifiedMatching -orphanet.ordo:52429 Branchiootic syndrome oboInOwl:hasDbXref OMIM:608389 semapv:UnspecifiedMatching -orphanet.ordo:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:167320 semapv:UnspecifiedMatching -orphanet.ordo:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615422 semapv:UnspecifiedMatching -orphanet.ordo:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615424 semapv:UnspecifiedMatching -orphanet.ordo:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref UMLS:C1833662 semapv:UnspecifiedMatching -orphanet.ordo:525 Lichen planopilaris oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching -orphanet.ordo:525 Lichen planopilaris oboInOwl:hasDbXref MESH:C535892 semapv:UnspecifiedMatching -orphanet.ordo:525 Lichen planopilaris oboInOwl:hasDbXref MeSH:C535892 semapv:UnspecifiedMatching -orphanet.ordo:525 Lichen planopilaris oboInOwl:hasDbXref UMLS:C0023645 semapv:UnspecifiedMatching -orphanet.ordo:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref OMIM:300352 semapv:UnspecifiedMatching -orphanet.ordo:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref UMLS:C1845862 semapv:UnspecifiedMatching -orphanet.ordo:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref OMIM:177820 semapv:UnspecifiedMatching -orphanet.ordo:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref UMLS:C1280798 semapv:UnspecifiedMatching -orphanet.ordo:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref ICD10:E05.0 semapv:UnspecifiedMatching -orphanet.ordo:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref MESH:D056929 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref MeSH:D056929 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref MedDRA:10037113 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref MedDRA:10052313 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref OMIM:618114 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref OMIM:618126 semapv:UnspecifiedMatching -orphanet.ordo:526 Liddle syndrome oboInOwl:hasDbXref UMLS:C0221043 semapv:UnspecifiedMatching -orphanet.ordo:52688 Myelodysplastic syndrome oboInOwl:hasDbXref MESH:D009190 semapv:UnspecifiedMatching -orphanet.ordo:52688 Myelodysplastic syndrome oboInOwl:hasDbXref MeSH:D009190 semapv:UnspecifiedMatching -orphanet.ordo:52688 Myelodysplastic syndrome oboInOwl:hasDbXref MedDRA:10028532 semapv:UnspecifiedMatching -orphanet.ordo:52688 Myelodysplastic syndrome oboInOwl:hasDbXref OMIM:614286 semapv:UnspecifiedMatching -orphanet.ordo:52688 Myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C3463824 semapv:UnspecifiedMatching -orphanet.ordo:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref OMIM:617662 semapv:UnspecifiedMatching -orphanet.ordo:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref UMLS:C5681454 semapv:UnspecifiedMatching -orphanet.ordo:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:617560 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref MESH:D014657 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref MESH:D056647 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref MeSH:D014657 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref MeSH:D056647 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref MedDRA:10036023 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref MedDRA:10047115 semapv:UnspecifiedMatching -orphanet.ordo:52759 Vasculitis oboInOwl:hasDbXref UMLS:C0042384 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref MedDRA:10024603 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:269700 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:606721 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:608594 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:612526 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching -orphanet.ordo:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0221032 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:301029 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:606053 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:617755 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618009 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618292 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618342 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618430 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618470 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618569 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618653 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618659 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618906 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618914 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618922 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618971 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618974 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619000 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619005 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619031 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619056 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619072 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619076 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619083 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619091 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619092 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619099 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619125 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619149 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619157 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619239 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619243 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619244 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619264 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619268 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619306 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619314 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619320 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:620065 semapv:UnspecifiedMatching -orphanet.ordo:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:620098 semapv:UnspecifiedMatching -orphanet.ordo:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref OMIM:617021 semapv:UnspecifiedMatching -orphanet.ordo:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref OMIM:617671 semapv:UnspecifiedMatching -orphanet.ordo:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:528663 Acquired angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching -orphanet.ordo:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref MESH:C537070 semapv:UnspecifiedMatching -orphanet.ordo:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref MeSH:C537070 semapv:UnspecifiedMatching -orphanet.ordo:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref OMIM:229070 semapv:UnspecifiedMatching -orphanet.ordo:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C1856716 semapv:UnspecifiedMatching -orphanet.ordo:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching -orphanet.ordo:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching -orphanet.ordo:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref OMIM:617041 semapv:UnspecifiedMatching -orphanet.ordo:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref OMIM:617810 semapv:UnspecifiedMatching -orphanet.ordo:529799 Acute bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching -orphanet.ordo:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching -orphanet.ordo:529819 NON RARE IN EUROPE: Exfoliation syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching -orphanet.ordo:529828 Prediction of enzalutamide toxicity oboInOwl:hasDbXref OMIM:618018 semapv:UnspecifiedMatching -orphanet.ordo:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching -orphanet.ordo:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching -orphanet.ordo:529864 Secondary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching -orphanet.ordo:52994 Orbital leiomyoma oboInOwl:hasDbXref ICD10:D31.6 semapv:UnspecifiedMatching -orphanet.ordo:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617682 semapv:UnspecifiedMatching -orphanet.ordo:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -orphanet.ordo:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref OMIM:617187 semapv:UnspecifiedMatching -orphanet.ordo:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref OMIM:618112 semapv:UnspecifiedMatching -orphanet.ordo:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref OMIM:166600 semapv:UnspecifiedMatching -orphanet.ordo:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref UMLS:C3179239 semapv:UnspecifiedMatching -orphanet.ordo:530 Lipoid proteinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching -orphanet.ordo:530 Lipoid proteinosis oboInOwl:hasDbXref OMIM:247100 semapv:UnspecifiedMatching -orphanet.ordo:530 Lipoid proteinosis oboInOwl:hasDbXref UMLS:C0023795 semapv:UnspecifiedMatching -orphanet.ordo:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref MESH:C531647 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref MeSH:C531647 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref MeSH:D016767 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref MedDRA:10013003 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref OMIM:600643 semapv:UnspecifiedMatching -orphanet.ordo:53035 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching -orphanet.ordo:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching -orphanet.ordo:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching -orphanet.ordo:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching -orphanet.ordo:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching -orphanet.ordo:530983 Lamb-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -orphanet.ordo:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref MESH:D015456 semapv:UnspecifiedMatching -orphanet.ordo:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref MeSH:D015456 semapv:UnspecifiedMatching -orphanet.ordo:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref MedDRA:10067399 semapv:UnspecifiedMatching -orphanet.ordo:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:531 Miller-Dieker syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:531 Miller-Dieker syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching -orphanet.ordo:531 Miller-Dieker syndrome oboInOwl:hasDbXref MeSH:D054221 semapv:UnspecifiedMatching -orphanet.ordo:531 Miller-Dieker syndrome oboInOwl:hasDbXref MedDRA:10068361 semapv:UnspecifiedMatching -orphanet.ordo:531 Miller-Dieker syndrome oboInOwl:hasDbXref OMIM:247200 semapv:UnspecifiedMatching -orphanet.ordo:531 Miller-Dieker syndrome oboInOwl:hasDbXref UMLS:C0265219 semapv:UnspecifiedMatching -orphanet.ordo:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:53271 Muenke syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:53271 Muenke syndrome oboInOwl:hasDbXref MESH:C537369 semapv:UnspecifiedMatching -orphanet.ordo:53271 Muenke syndrome oboInOwl:hasDbXref MeSH:C537369 semapv:UnspecifiedMatching -orphanet.ordo:53271 Muenke syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching -orphanet.ordo:53271 Muenke syndrome oboInOwl:hasDbXref UMLS:C1864436 semapv:UnspecifiedMatching -orphanet.ordo:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref ICD10:L94.8 semapv:UnspecifiedMatching -orphanet.ordo:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref OMIM:115250 semapv:UnspecifiedMatching -orphanet.ordo:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref UMLS:C0406817 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.0 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.1 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.7 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.8 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.9 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref MESH:D008088 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref MeSH:D008088 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref MedDRA:10024641 semapv:UnspecifiedMatching -orphanet.ordo:533 Listeriosis oboInOwl:hasDbXref UMLS:C0023860 semapv:UnspecifiedMatching -orphanet.ordo:53347 Brody myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:53347 Brody myopathy oboInOwl:hasDbXref MESH:C536607 semapv:UnspecifiedMatching -orphanet.ordo:53347 Brody myopathy oboInOwl:hasDbXref MeSH:C536607 semapv:UnspecifiedMatching -orphanet.ordo:53347 Brody myopathy oboInOwl:hasDbXref OMIM:601003 semapv:UnspecifiedMatching -orphanet.ordo:53347 Brody myopathy oboInOwl:hasDbXref UMLS:C1832918 semapv:UnspecifiedMatching -orphanet.ordo:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref OMIM:314250 semapv:UnspecifiedMatching -orphanet.ordo:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1839130 semapv:UnspecifiedMatching -orphanet.ordo:53372 Hereditary geniospasm oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching -orphanet.ordo:53372 Hereditary geniospasm oboInOwl:hasDbXref MESH:C537682 semapv:UnspecifiedMatching -orphanet.ordo:53372 Hereditary geniospasm oboInOwl:hasDbXref MeSH:C537682 semapv:UnspecifiedMatching -orphanet.ordo:53372 Hereditary geniospasm oboInOwl:hasDbXref OMIM:190100 semapv:UnspecifiedMatching -orphanet.ordo:53372 Hereditary geniospasm oboInOwl:hasDbXref UMLS:C2931589 semapv:UnspecifiedMatching -orphanet.ordo:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MESH:D009800 semapv:UnspecifiedMatching -orphanet.ordo:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MeSH:D009800 semapv:UnspecifiedMatching -orphanet.ordo:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MedDRA:10051707 semapv:UnspecifiedMatching -orphanet.ordo:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching -orphanet.ordo:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref UMLS:C0028860 semapv:UnspecifiedMatching -orphanet.ordo:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref MESH:D008178 semapv:UnspecifiedMatching -orphanet.ordo:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref MeSH:D008178 semapv:UnspecifiedMatching -orphanet.ordo:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10056509 semapv:UnspecifiedMatching -orphanet.ordo:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C0024137 semapv:UnspecifiedMatching -orphanet.ordo:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref OMIM:268100 semapv:UnspecifiedMatching -orphanet.ordo:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref UMLS:C0339541 semapv:UnspecifiedMatching -orphanet.ordo:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching -orphanet.ordo:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref OMIM:246650 semapv:UnspecifiedMatching -orphanet.ordo:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching -orphanet.ordo:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching -orphanet.ordo:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching -orphanet.ordo:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref UMLS:C1832855 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref MeSH:D008180 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref OMIM:301080 semapv:UnspecifiedMatching -orphanet.ordo:536 Systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching -orphanet.ordo:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching -orphanet.ordo:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref OMIM:618000 semapv:UnspecifiedMatching -orphanet.ordo:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:53689 Congenital chloride diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -orphanet.ordo:53689 Congenital chloride diarrhea oboInOwl:hasDbXref MESH:C536210 semapv:UnspecifiedMatching -orphanet.ordo:53689 Congenital chloride diarrhea oboInOwl:hasDbXref MeSH:C536210 semapv:UnspecifiedMatching -orphanet.ordo:53689 Congenital chloride diarrhea oboInOwl:hasDbXref OMIM:214700 semapv:UnspecifiedMatching -orphanet.ordo:53689 Congenital chloride diarrhea oboInOwl:hasDbXref UMLS:C0267662 semapv:UnspecifiedMatching -orphanet.ordo:53690 Congenital lactase deficiency oboInOwl:hasDbXref ICD10:E73.0 semapv:UnspecifiedMatching -orphanet.ordo:53690 Congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 semapv:UnspecifiedMatching -orphanet.ordo:53690 Congenital lactase deficiency oboInOwl:hasDbXref UMLS:C0268179 semapv:UnspecifiedMatching -orphanet.ordo:53691 Congenital cornea plana oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching -orphanet.ordo:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:121400 semapv:UnspecifiedMatching -orphanet.ordo:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:217300 semapv:UnspecifiedMatching -orphanet.ordo:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:53693 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 semapv:UnspecifiedMatching -orphanet.ordo:53693 GRACILE syndrome oboInOwl:hasDbXref MeSH:C537934 semapv:UnspecifiedMatching -orphanet.ordo:53693 GRACILE syndrome oboInOwl:hasDbXref OMIM:603358 semapv:UnspecifiedMatching -orphanet.ordo:53693 GRACILE syndrome oboInOwl:hasDbXref UMLS:C1864002 semapv:UnspecifiedMatching -orphanet.ordo:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref OMIM:611890 semapv:UnspecifiedMatching -orphanet.ordo:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref UMLS:C2678471 semapv:UnspecifiedMatching -orphanet.ordo:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:166260 semapv:UnspecifiedMatching -orphanet.ordo:53698 Myosin storage myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching -orphanet.ordo:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching -orphanet.ordo:537 Toxic epidermal necrolysis oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching -orphanet.ordo:537 Toxic epidermal necrolysis oboInOwl:hasDbXref UMLS:C0014518 semapv:UnspecifiedMatching -orphanet.ordo:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:53715 Familial tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching -orphanet.ordo:53715 Familial tumoral calcinosis oboInOwl:hasDbXref MedDRA:10059364 semapv:UnspecifiedMatching -orphanet.ordo:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching -orphanet.ordo:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching -orphanet.ordo:53715 Familial tumoral calcinosis oboInOwl:hasDbXref UMLS:C0263628 semapv:UnspecifiedMatching -orphanet.ordo:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -orphanet.ordo:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MESH:C536752 semapv:UnspecifiedMatching -orphanet.ordo:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MeSH:C536752 semapv:UnspecifiedMatching -orphanet.ordo:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MedDRA:10048661 semapv:UnspecifiedMatching -orphanet.ordo:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref UMLS:C0265321 semapv:UnspecifiedMatching -orphanet.ordo:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching -orphanet.ordo:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref MedDRA:10068841 semapv:UnspecifiedMatching -orphanet.ordo:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref UMLS:C0346068 semapv:UnspecifiedMatching -orphanet.ordo:53739 Distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C0393541 semapv:UnspecifiedMatching -orphanet.ordo:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching -orphanet.ordo:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MESH:D018192 semapv:UnspecifiedMatching -orphanet.ordo:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MeSH:D018192 semapv:UnspecifiedMatching -orphanet.ordo:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MedDRA:10049459 semapv:UnspecifiedMatching -orphanet.ordo:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching -orphanet.ordo:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS:C0751674 semapv:UnspecifiedMatching -orphanet.ordo:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref OMIM:604431 semapv:UnspecifiedMatching -orphanet.ordo:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:148360 semapv:UnspecifiedMatching -orphanet.ordo:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -orphanet.ordo:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref OMIM:190340 semapv:UnspecifiedMatching -orphanet.ordo:538863 Classic pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching -orphanet.ordo:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching -orphanet.ordo:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching -orphanet.ordo:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching -orphanet.ordo:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -orphanet.ordo:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching -orphanet.ordo:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -orphanet.ordo:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching -orphanet.ordo:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -orphanet.ordo:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref OMIM:618261 semapv:UnspecifiedMatching -orphanet.ordo:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -orphanet.ordo:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref OMIM:613011 semapv:UnspecifiedMatching -orphanet.ordo:54 X-linked recessive ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:54 X-linked recessive ocular albinism oboInOwl:hasDbXref MESH:C537863 semapv:UnspecifiedMatching -orphanet.ordo:54 X-linked recessive ocular albinism oboInOwl:hasDbXref MeSH:C537863 semapv:UnspecifiedMatching -orphanet.ordo:54 X-linked recessive ocular albinism oboInOwl:hasDbXref OMIM:300500 semapv:UnspecifiedMatching -orphanet.ordo:54 X-linked recessive ocular albinism oboInOwl:hasDbXref UMLS:C0342684 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MedDRA:10070904 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:267700 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:603552 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:603553 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:608898 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:613101 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:618998 semapv:UnspecifiedMatching -orphanet.ordo:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0272199 semapv:UnspecifiedMatching -orphanet.ordo:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref ICD10:D50.1 semapv:UnspecifiedMatching -orphanet.ordo:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MESH:D011004 semapv:UnspecifiedMatching -orphanet.ordo:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MeSH:D011004 semapv:UnspecifiedMatching -orphanet.ordo:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MedDRA:10040664 semapv:UnspecifiedMatching -orphanet.ordo:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref UMLS:C0032249 semapv:UnspecifiedMatching -orphanet.ordo:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching -orphanet.ordo:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching -orphanet.ordo:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MeSH:D011697 semapv:UnspecifiedMatching -orphanet.ordo:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MedDRA:10043648 semapv:UnspecifiedMatching -orphanet.ordo:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching -orphanet.ordo:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0034155 semapv:UnspecifiedMatching -orphanet.ordo:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching -orphanet.ordo:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref MESH:D054446 semapv:UnspecifiedMatching -orphanet.ordo:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref MeSH:D054446 semapv:UnspecifiedMatching -orphanet.ordo:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref MedDRA:10065863 semapv:UnspecifiedMatching -orphanet.ordo:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref UMLS:C1301362 semapv:UnspecifiedMatching -orphanet.ordo:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref OMIM:617093 semapv:UnspecifiedMatching -orphanet.ordo:541443 Anomalous aortic origin of the left coronary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:541454 Anomalous aortic origin of the right coronary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:542 Primary cutaneous lymphoma oboInOwl:hasDbXref MedDRA:10051708 semapv:UnspecifiedMatching -orphanet.ordo:542 Primary cutaneous lymphoma oboInOwl:hasDbXref UMLS:C1302772 semapv:UnspecifiedMatching -orphanet.ordo:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -orphanet.ordo:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching -orphanet.ordo:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref OMIM:617173 semapv:UnspecifiedMatching -orphanet.ordo:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref OMIM:614561 semapv:UnspecifiedMatching -orphanet.ordo:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:54238 Myotonic dystrophy type 3 oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 semapv:UnspecifiedMatching -orphanet.ordo:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:542568 Quadricuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617717 semapv:UnspecifiedMatching -orphanet.ordo:542592 Necrobiosis lipoidica oboInOwl:hasDbXref ICD10:L92.1 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:601493 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:601494 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:604169 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:609470 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:611878 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:613424 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:613426 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615092 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615373 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615396 semapv:UnspecifiedMatching -orphanet.ordo:54260 Left ventricular noncompaction oboInOwl:hasDbXref UMLS:C1960469 semapv:UnspecifiedMatching -orphanet.ordo:542643 Livedoid vasculopathy oboInOwl:hasDbXref ICD10:L95.0 semapv:UnspecifiedMatching -orphanet.ordo:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching -orphanet.ordo:54272 Hepatocellular adenoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching -orphanet.ordo:54272 Hepatocellular adenoma oboInOwl:hasDbXref MESH:D018248 semapv:UnspecifiedMatching -orphanet.ordo:54272 Hepatocellular adenoma oboInOwl:hasDbXref MeSH:D018248 semapv:UnspecifiedMatching -orphanet.ordo:54272 Hepatocellular adenoma oboInOwl:hasDbXref MedDRA:10019827 semapv:UnspecifiedMatching -orphanet.ordo:54272 Hepatocellular adenoma oboInOwl:hasDbXref UMLS:C0206669 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C83.7 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C91.8 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MeSH:D002051 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MeSH:D008228 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10006595 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10053518 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10067184 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 semapv:UnspecifiedMatching -orphanet.ordo:543 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0006413 semapv:UnspecifiedMatching -orphanet.ordo:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:54368 Sarcocystosis oboInOwl:hasDbXref ICD10:A07.8 semapv:UnspecifiedMatching -orphanet.ordo:54368 Sarcocystosis oboInOwl:hasDbXref MESH:D012523 semapv:UnspecifiedMatching -orphanet.ordo:54368 Sarcocystosis oboInOwl:hasDbXref MeSH:D012523 semapv:UnspecifiedMatching -orphanet.ordo:54368 Sarcocystosis oboInOwl:hasDbXref MedDRA:10039483 semapv:UnspecifiedMatching -orphanet.ordo:54368 Sarcocystosis oboInOwl:hasDbXref UMLS:C0036231 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MeSH:D015432 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MedDRA:10018370 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching -orphanet.ordo:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0017662 semapv:UnspecifiedMatching -orphanet.ordo:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MESH:D016403 semapv:UnspecifiedMatching -orphanet.ordo:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MeSH:D016403 semapv:UnspecifiedMatching -orphanet.ordo:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10012818 semapv:UnspecifiedMatching -orphanet.ordo:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref UMLS:C0079744 semapv:UnspecifiedMatching -orphanet.ordo:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref OMIM:617481 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612922 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612923 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612924 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612925 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612926 semapv:UnspecifiedMatching -orphanet.ordo:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching -orphanet.ordo:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching -orphanet.ordo:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref OMIM:619075 semapv:UnspecifiedMatching -orphanet.ordo:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618379 semapv:UnspecifiedMatching -orphanet.ordo:544578 Congenital primary megaureter, refluxing and obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching -orphanet.ordo:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref OMIM:618414 semapv:UnspecifiedMatching -orphanet.ordo:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.0 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.1 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.2 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.3 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.4 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.5 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.7 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.9 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref MESH:D008224 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref MeSH:D008224 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref OMIM:613024 semapv:UnspecifiedMatching -orphanet.ordo:545 Follicular lymphoma oboInOwl:hasDbXref UMLS:C0024301 semapv:UnspecifiedMatching -orphanet.ordo:54595 Craniopharyngioma oboInOwl:hasDbXref ICD10:D44.4 semapv:UnspecifiedMatching -orphanet.ordo:54595 Craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching -orphanet.ordo:54595 Craniopharyngioma oboInOwl:hasDbXref MeSH:D003397 semapv:UnspecifiedMatching -orphanet.ordo:54595 Craniopharyngioma oboInOwl:hasDbXref MedDRA:10011318 semapv:UnspecifiedMatching -orphanet.ordo:54595 Craniopharyngioma oboInOwl:hasDbXref UMLS:C0010276 semapv:UnspecifiedMatching -orphanet.ordo:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching -orphanet.ordo:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref MeSH:D008228 semapv:UnspecifiedMatching -orphanet.ordo:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref MedDRA:10029547 semapv:UnspecifiedMatching -orphanet.ordo:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref OMIM:605027 semapv:UnspecifiedMatching -orphanet.ordo:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0024305 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.0 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.1 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.2 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.3 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.4 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.5 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.8 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref ICD10:A30.9 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref MESH:D007918 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref MeSH:D007918 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref MedDRA:10024229 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref OMIM:246300 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref OMIM:607572 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref OMIM:609888 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref OMIM:610988 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref OMIM:613223 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching -orphanet.ordo:548 Leprosy oboInOwl:hasDbXref UMLS:C0023343 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref MESH:D007876 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref MESH:D007877 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref MeSH:D007876 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref MeSH:D007877 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref MedDRA:10035718 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref MedDRA:10061266 semapv:UnspecifiedMatching -orphanet.ordo:549 Legionnaires disease oboInOwl:hasDbXref UMLS:C0023241 semapv:UnspecifiedMatching -orphanet.ordo:55 Oculocutaneous albinism oboInOwl:hasDbXref MESH:D016115 semapv:UnspecifiedMatching -orphanet.ordo:55 Oculocutaneous albinism oboInOwl:hasDbXref MeSH:D016115 semapv:UnspecifiedMatching -orphanet.ordo:55 Oculocutaneous albinism oboInOwl:hasDbXref UMLS:C0078918 semapv:UnspecifiedMatching -orphanet.ordo:550 MELAS oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:550 MELAS oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching -orphanet.ordo:550 MELAS oboInOwl:hasDbXref MeSH:D017241 semapv:UnspecifiedMatching -orphanet.ordo:550 MELAS oboInOwl:hasDbXref MedDRA:10053872 semapv:UnspecifiedMatching -orphanet.ordo:550 MELAS oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching -orphanet.ordo:550 MELAS oboInOwl:hasDbXref UMLS:C0162671 semapv:UnspecifiedMatching -orphanet.ordo:551 MERRF oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:551 MERRF oboInOwl:hasDbXref MESH:D017243 semapv:UnspecifiedMatching -orphanet.ordo:551 MERRF oboInOwl:hasDbXref MeSH:D017243 semapv:UnspecifiedMatching -orphanet.ordo:551 MERRF oboInOwl:hasDbXref MedDRA:10069825 semapv:UnspecifiedMatching -orphanet.ordo:551 MERRF oboInOwl:hasDbXref OMIM:545000 semapv:UnspecifiedMatching -orphanet.ordo:551 MERRF oboInOwl:hasDbXref UMLS:C0162672 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:125850 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:125851 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:600496 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:606391 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:606392 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:606394 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:609812 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:610508 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:612225 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:613370 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:613375 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:616329 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref OMIM:616511 semapv:UnspecifiedMatching -orphanet.ordo:552 MODY oboInOwl:hasDbXref UMLS:C0342276 semapv:UnspecifiedMatching -orphanet.ordo:555 NON RARE IN EUROPE: Celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching -orphanet.ordo:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref OMIM:618321 semapv:UnspecifiedMatching -orphanet.ordo:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref OMIM:617186 semapv:UnspecifiedMatching -orphanet.ordo:555434 Fibrohistiocytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching -orphanet.ordo:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching -orphanet.ordo:555874 Congenital tricuspid valve dysplasia oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching -orphanet.ordo:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching -orphanet.ordo:555905 IgA pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching -orphanet.ordo:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref OMIM:608423 semapv:UnspecifiedMatching -orphanet.ordo:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref UMLS:C1842062 semapv:UnspecifiedMatching -orphanet.ordo:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref OMIM:609115 semapv:UnspecifiedMatching -orphanet.ordo:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref UMLS:C1836765 semapv:UnspecifiedMatching -orphanet.ordo:556 Malakoplakia oboInOwl:hasDbXref ICD10:N28.8 semapv:UnspecifiedMatching -orphanet.ordo:556 Malakoplakia oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching -orphanet.ordo:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching -orphanet.ordo:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref MESH:C537160 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref MeSH:C537160 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:278150 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:604379 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:605389 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:607903 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:614237 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:614238 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:615059 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:615885 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:618275 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:620177 semapv:UnspecifiedMatching -orphanet.ordo:55654 Hypotrichosis simplex oboInOwl:hasDbXref UMLS:C1854310 semapv:UnspecifiedMatching -orphanet.ordo:55655 Pneumococcal meningitis oboInOwl:hasDbXref ICD10:G00.1 semapv:UnspecifiedMatching -orphanet.ordo:55655 Pneumococcal meningitis oboInOwl:hasDbXref MESH:D008586 semapv:UnspecifiedMatching -orphanet.ordo:55655 Pneumococcal meningitis oboInOwl:hasDbXref MeSH:D008586 semapv:UnspecifiedMatching -orphanet.ordo:55655 Pneumococcal meningitis oboInOwl:hasDbXref MedDRA:10027253 semapv:UnspecifiedMatching -orphanet.ordo:55655 Pneumococcal meningitis oboInOwl:hasDbXref UMLS:C0025295 semapv:UnspecifiedMatching -orphanet.ordo:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref OMIM:618500 semapv:UnspecifiedMatching -orphanet.ordo:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref OMIM:618476 semapv:UnspecifiedMatching -orphanet.ordo:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref MESH:C537771 semapv:UnspecifiedMatching -orphanet.ordo:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref MeSH:C537771 semapv:UnspecifiedMatching -orphanet.ordo:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref OMIM:107100 semapv:UnspecifiedMatching -orphanet.ordo:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref OMIM:207500 semapv:UnspecifiedMatching -orphanet.ordo:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref OMIM:301800 semapv:UnspecifiedMatching -orphanet.ordo:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref UMLS:C3495676 semapv:UnspecifiedMatching -orphanet.ordo:557003 Oculoskeletodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:557003 Oculoskeletodental syndrome oboInOwl:hasDbXref OMIM:618440 semapv:UnspecifiedMatching -orphanet.ordo:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref UMLS:C5681336 semapv:UnspecifiedMatching -orphanet.ordo:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref OMIM:618328 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref MeSH:D008382 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref MedDRA:10026829 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching -orphanet.ordo:558 Marfan syndrome oboInOwl:hasDbXref UMLS:C0024796 semapv:UnspecifiedMatching -orphanet.ordo:558411 Idiopathic gastroparesis oboInOwl:hasDbXref ICD10:K31.8 semapv:UnspecifiedMatching -orphanet.ordo:55880 Chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:55880 Chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatching -orphanet.ordo:55880 Chondrosarcoma oboInOwl:hasDbXref MeSH:D002813 semapv:UnspecifiedMatching -orphanet.ordo:55880 Chondrosarcoma oboInOwl:hasDbXref MedDRA:10008734 semapv:UnspecifiedMatching -orphanet.ordo:55880 Chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedMatching -orphanet.ordo:55880 Chondrosarcoma oboInOwl:hasDbXref UMLS:C0008479 semapv:UnspecifiedMatching -orphanet.ordo:55881 Adamantinoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching -orphanet.ordo:55881 Adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching -orphanet.ordo:55881 Adamantinoma oboInOwl:hasDbXref MeSH:D050398 semapv:UnspecifiedMatching -orphanet.ordo:55881 Adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching -orphanet.ordo:55881 Adamantinoma oboInOwl:hasDbXref UMLS:C1367554 semapv:UnspecifiedMatching -orphanet.ordo:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref OMIM:248800 semapv:UnspecifiedMatching -orphanet.ordo:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref UMLS:C0024814 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref MESH:C537862 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref MeSH:C537862 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref MeSH:D000474 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref MedDRA:10001689 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref OMIM:203500 semapv:UnspecifiedMatching -orphanet.ordo:56 Alkaptonuria oboInOwl:hasDbXref UMLS:C0002066 semapv:UnspecifiedMatching -orphanet.ordo:560 Marshall syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:560 Marshall syndrome oboInOwl:hasDbXref MESH:C536025 semapv:UnspecifiedMatching -orphanet.ordo:560 Marshall syndrome oboInOwl:hasDbXref MeSH:C536025 semapv:UnspecifiedMatching -orphanet.ordo:560 Marshall syndrome oboInOwl:hasDbXref OMIM:154780 semapv:UnspecifiedMatching -orphanet.ordo:560 Marshall syndrome oboInOwl:hasDbXref UMLS:C0265235 semapv:UnspecifiedMatching -orphanet.ordo:56044 Carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref MedDRA:10007426 semapv:UnspecifiedMatching -orphanet.ordo:561 Marshall-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:561 Marshall-Smith syndrome oboInOwl:hasDbXref MESH:C536026 semapv:UnspecifiedMatching -orphanet.ordo:561 Marshall-Smith syndrome oboInOwl:hasDbXref MeSH:C536026 semapv:UnspecifiedMatching -orphanet.ordo:561 Marshall-Smith syndrome oboInOwl:hasDbXref OMIM:602535 semapv:UnspecifiedMatching -orphanet.ordo:561 Marshall-Smith syndrome oboInOwl:hasDbXref UMLS:C0265211 semapv:UnspecifiedMatching -orphanet.ordo:561854 FOXG1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:562 McCune-Albright syndrome oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching -orphanet.ordo:562 McCune-Albright syndrome oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching -orphanet.ordo:562 McCune-Albright syndrome oboInOwl:hasDbXref MeSH:D005359 semapv:UnspecifiedMatching -orphanet.ordo:562 McCune-Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching -orphanet.ordo:562 McCune-Albright syndrome oboInOwl:hasDbXref UMLS:C0242292 semapv:UnspecifiedMatching -orphanet.ordo:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref OMIM:614034 semapv:UnspecifiedMatching -orphanet.ordo:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching -orphanet.ordo:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref OMIM:618148 semapv:UnspecifiedMatching -orphanet.ordo:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome oboInOwl:hasDbXref ICD10:F72.8 semapv:UnspecifiedMatching -orphanet.ordo:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome oboInOwl:hasDbXref OMIM:613671 semapv:UnspecifiedMatching -orphanet.ordo:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref OMIM:618316 semapv:UnspecifiedMatching -orphanet.ordo:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching -orphanet.ordo:563 Peripartum cardiomyopathy oboInOwl:hasDbXref ICD10:O90.3 semapv:UnspecifiedMatching -orphanet.ordo:563 Peripartum cardiomyopathy oboInOwl:hasDbXref MedDRA:10049430 semapv:UnspecifiedMatching -orphanet.ordo:563 Peripartum cardiomyopathy oboInOwl:hasDbXref UMLS:C0877208 semapv:UnspecifiedMatching -orphanet.ordo:56304 Atelosteogenesis type II oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching -orphanet.ordo:56304 Atelosteogenesis type II oboInOwl:hasDbXref MESH:C535395 semapv:UnspecifiedMatching -orphanet.ordo:56304 Atelosteogenesis type II oboInOwl:hasDbXref MeSH:C535395 semapv:UnspecifiedMatching -orphanet.ordo:56304 Atelosteogenesis type II oboInOwl:hasDbXref OMIM:256050 semapv:UnspecifiedMatching -orphanet.ordo:56304 Atelosteogenesis type II oboInOwl:hasDbXref UMLS:C1850554 semapv:UnspecifiedMatching -orphanet.ordo:56305 Atelosteogenesis type III oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:56305 Atelosteogenesis type III oboInOwl:hasDbXref OMIM:108721 semapv:UnspecifiedMatching -orphanet.ordo:56305 Atelosteogenesis type III oboInOwl:hasDbXref UMLS:C3668942 semapv:UnspecifiedMatching -orphanet.ordo:563576 Autoimmune hepatitis type 1 oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching -orphanet.ordo:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching -orphanet.ordo:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching -orphanet.ordo:563609 Isolated anencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching -orphanet.ordo:563612 Isolated exencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching -orphanet.ordo:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching -orphanet.ordo:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching -orphanet.ordo:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching -orphanet.ordo:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -orphanet.ordo:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching -orphanet.ordo:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching -orphanet.ordo:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref ICD10:M92.6 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:249000 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:603194 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:607361 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:609345 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:611134 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:611561 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:612284 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:613885 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:614209 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:615397 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:616258 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:617562 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref OMIM:619879 semapv:UnspecifiedMatching -orphanet.ordo:564 Meckel syndrome oboInOwl:hasDbXref UMLS:C0265215 semapv:UnspecifiedMatching -orphanet.ordo:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref ICD10:M92.7 semapv:UnspecifiedMatching -orphanet.ordo:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:56425 Cold agglutinin disease oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching -orphanet.ordo:56425 Cold agglutinin disease oboInOwl:hasDbXref UMLS:C0175816 semapv:UnspecifiedMatching -orphanet.ordo:565 Menkes disease oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching -orphanet.ordo:565 Menkes disease oboInOwl:hasDbXref MedDRA:10027294 semapv:UnspecifiedMatching -orphanet.ordo:565 Menkes disease oboInOwl:hasDbXref OMIM:309400 semapv:UnspecifiedMatching -orphanet.ordo:565 Menkes disease oboInOwl:hasDbXref UMLS:C0022716 semapv:UnspecifiedMatching -orphanet.ordo:565612 Primary triglyceride deposit cardiomyovasculopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref OMIM:618397 semapv:UnspecifiedMatching -orphanet.ordo:565641 Primary desmosis coli oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:565782 Methotrexate toxicity oboInOwl:hasDbXref ICD10:Y14 semapv:UnspecifiedMatching -orphanet.ordo:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref OMIM:618213 semapv:UnspecifiedMatching -orphanet.ordo:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref OMIM:618265 semapv:UnspecifiedMatching -orphanet.ordo:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:566 Congenital microcoria oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:566 Congenital microcoria oboInOwl:hasDbXref MESH:C537550 semapv:UnspecifiedMatching -orphanet.ordo:566 Congenital microcoria oboInOwl:hasDbXref MeSH:C537550 semapv:UnspecifiedMatching -orphanet.ordo:566 Congenital microcoria oboInOwl:hasDbXref OMIM:156600 semapv:UnspecifiedMatching -orphanet.ordo:566 Congenital microcoria oboInOwl:hasDbXref UMLS:C1303009 semapv:UnspecifiedMatching -orphanet.ordo:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching -orphanet.ordo:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref OMIM:226300 semapv:UnspecifiedMatching -orphanet.ordo:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -orphanet.ordo:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -orphanet.ordo:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching -orphanet.ordo:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching -orphanet.ordo:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching -orphanet.ordo:566393 Acute mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching -orphanet.ordo:566396 Chronic mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching -orphanet.ordo:566841 Liver adenomatosis oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching -orphanet.ordo:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:566852 Atelencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:566857 Aprosencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:566862 Left sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching -orphanet.ordo:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref ICD10:D82.1 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MESH:D058165 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MeSH:D058165 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MedDRA:10012979 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MedDRA:10066430 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:125520 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching -orphanet.ordo:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:192430 semapv:UnspecifiedMatching -orphanet.ordo:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:567544 Idiopathic non-lupus full-house nephropathy oboInOwl:hasDbXref ICD10:N05 semapv:UnspecifiedMatching -orphanet.ordo:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619263 semapv:UnspecifiedMatching -orphanet.ordo:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:568 Microphthalmia, Lenz type oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:568 Microphthalmia, Lenz type oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching -orphanet.ordo:568 Microphthalmia, Lenz type oboInOwl:hasDbXref OMIM:309800 semapv:UnspecifiedMatching -orphanet.ordo:568 Microphthalmia, Lenz type oboInOwl:hasDbXref UMLS:C0796016 semapv:UnspecifiedMatching -orphanet.ordo:568051 GJC2-related late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching -orphanet.ordo:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref OMIM:617300 semapv:UnspecifiedMatching -orphanet.ordo:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref ICD10:G43.1 semapv:UnspecifiedMatching -orphanet.ordo:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:141500 semapv:UnspecifiedMatching -orphanet.ordo:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:602481 semapv:UnspecifiedMatching -orphanet.ordo:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:607516 semapv:UnspecifiedMatching -orphanet.ordo:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:609634 semapv:UnspecifiedMatching -orphanet.ordo:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching -orphanet.ordo:569248 Microcystic stromal tumor oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching -orphanet.ordo:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref OMIM:617613 semapv:UnspecifiedMatching -orphanet.ordo:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref OMIM:617954 semapv:UnspecifiedMatching -orphanet.ordo:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref MESH:D010244 semapv:UnspecifiedMatching -orphanet.ordo:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref MeSH:D010244 semapv:UnspecifiedMatching -orphanet.ordo:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref OMIM:211500 semapv:UnspecifiedMatching -orphanet.ordo:56970 Human prion disease oboInOwl:hasDbXref UMLS:C0162534 semapv:UnspecifiedMatching -orphanet.ordo:569816 CELSR1-related late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref UMLS:C5680138 semapv:UnspecifiedMatching -orphanet.ordo:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref OMIM:611881 semapv:UnspecifiedMatching -orphanet.ordo:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref UMLS:C0272066 semapv:UnspecifiedMatching -orphanet.ordo:570 Moebius syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:570 Moebius syndrome oboInOwl:hasDbXref MESH:D020331 semapv:UnspecifiedMatching -orphanet.ordo:570 Moebius syndrome oboInOwl:hasDbXref MeSH:D020331 semapv:UnspecifiedMatching -orphanet.ordo:570 Moebius syndrome oboInOwl:hasDbXref MedDRA:10030069 semapv:UnspecifiedMatching -orphanet.ordo:570 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 semapv:UnspecifiedMatching -orphanet.ordo:570 Moebius syndrome oboInOwl:hasDbXref UMLS:C0221060 semapv:UnspecifiedMatching -orphanet.ordo:570371 Bartter syndrome type 5 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref OMIM:618881 semapv:UnspecifiedMatching -orphanet.ordo:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:570470 Ricin poisoning oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching -orphanet.ordo:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:618835 semapv:UnspecifiedMatching -orphanet.ordo:570762 Infective endocarditis oboInOwl:hasDbXref ICD10:I33.0 semapv:UnspecifiedMatching -orphanet.ordo:57145 SUNCT syndrome oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching -orphanet.ordo:57145 SUNCT syndrome oboInOwl:hasDbXref MESH:D050798 semapv:UnspecifiedMatching -orphanet.ordo:57145 SUNCT syndrome oboInOwl:hasDbXref MeSH:D050798 semapv:UnspecifiedMatching -orphanet.ordo:57145 SUNCT syndrome oboInOwl:hasDbXref MedDRA:10061981 semapv:UnspecifiedMatching -orphanet.ordo:57145 SUNCT syndrome oboInOwl:hasDbXref UMLS:C1262087 semapv:UnspecifiedMatching -orphanet.ordo:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref ICD10:M85.3 semapv:UnspecifiedMatching -orphanet.ordo:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref ICD10:D81.7 semapv:UnspecifiedMatching -orphanet.ordo:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref OMIM:209920 semapv:UnspecifiedMatching -orphanet.ordo:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref UMLS:C2931418 semapv:UnspecifiedMatching -orphanet.ordo:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref OMIM:618325 semapv:UnspecifiedMatching -orphanet.ordo:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching -orphanet.ordo:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref UMLS:C0220663 semapv:UnspecifiedMatching -orphanet.ordo:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching -orphanet.ordo:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching -orphanet.ordo:572385 Brachydactyly type B1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:572385 Brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching -orphanet.ordo:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching -orphanet.ordo:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching -orphanet.ordo:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref UMLS:C5681722 semapv:UnspecifiedMatching -orphanet.ordo:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref OMIM:251230 semapv:UnspecifiedMatching -orphanet.ordo:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref UMLS:C1855079 semapv:UnspecifiedMatching -orphanet.ordo:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref OMIM:617604 semapv:UnspecifiedMatching -orphanet.ordo:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:617710 semapv:UnspecifiedMatching -orphanet.ordo:573 Monilethrix oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching -orphanet.ordo:573 Monilethrix oboInOwl:hasDbXref MESH:D056734 semapv:UnspecifiedMatching -orphanet.ordo:573 Monilethrix oboInOwl:hasDbXref MeSH:D056734 semapv:UnspecifiedMatching -orphanet.ordo:573 Monilethrix oboInOwl:hasDbXref OMIM:158000 semapv:UnspecifiedMatching -orphanet.ordo:573 Monilethrix oboInOwl:hasDbXref UMLS:C0546966 semapv:UnspecifiedMatching -orphanet.ordo:573253 Split cord malformation type II oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching -orphanet.ordo:573278 Split cord malformation oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching -orphanet.ordo:574 21q deletion syndrome oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching -orphanet.ordo:574 21q deletion syndrome oboInOwl:hasDbXref UMLS:C0795875 semapv:UnspecifiedMatching -orphanet.ordo:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:575 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:575 Muckle-Wells syndrome oboInOwl:hasDbXref MedDRA:10064569 semapv:UnspecifiedMatching -orphanet.ordo:575 Muckle-Wells syndrome oboInOwl:hasDbXref OMIM:191900 semapv:UnspecifiedMatching -orphanet.ordo:575 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS:C0268390 semapv:UnspecifiedMatching -orphanet.ordo:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -orphanet.ordo:576 Mucolipidosis type II oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching -orphanet.ordo:576 Mucolipidosis type II oboInOwl:hasDbXref MESH:C538602 semapv:UnspecifiedMatching -orphanet.ordo:576 Mucolipidosis type II oboInOwl:hasDbXref MeSH:C538602 semapv:UnspecifiedMatching -orphanet.ordo:576 Mucolipidosis type II oboInOwl:hasDbXref OMIM:252500 semapv:UnspecifiedMatching -orphanet.ordo:576 Mucolipidosis type II oboInOwl:hasDbXref UMLS:C0020725 semapv:UnspecifiedMatching -orphanet.ordo:576074 Middle East respiratory syndrome oboInOwl:hasDbXref ICD10:B34.2 semapv:UnspecifiedMatching -orphanet.ordo:576074 Middle East respiratory syndrome oboInOwl:hasDbXref MESH:D065207 semapv:UnspecifiedMatching -orphanet.ordo:576074 Middle East respiratory syndrome oboInOwl:hasDbXref MeSH:D065207 semapv:UnspecifiedMatching -orphanet.ordo:576074 Middle East respiratory syndrome oboInOwl:hasDbXref UMLS:C3694279 semapv:UnspecifiedMatching -orphanet.ordo:576227 Complete atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:576232 Partial atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:576235 Partial atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching -orphanet.ordo:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616115 semapv:UnspecifiedMatching -orphanet.ordo:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching -orphanet.ordo:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching -orphanet.ordo:577 Mucolipidosis type III oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching -orphanet.ordo:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching -orphanet.ordo:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching -orphanet.ordo:577 Mucolipidosis type III oboInOwl:hasDbXref UMLS:C0033788 semapv:UnspecifiedMatching -orphanet.ordo:57777 Cirrhotic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:57782 Mazabraud syndrome oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching -orphanet.ordo:578 Mucolipidosis type IV oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching -orphanet.ordo:578 Mucolipidosis type IV oboInOwl:hasDbXref OMIM:252650 semapv:UnspecifiedMatching -orphanet.ordo:578 Mucolipidosis type IV oboInOwl:hasDbXref UMLS:C0238286 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MeSH:D008059 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MedDRA:10056886 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching -orphanet.ordo:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref UMLS:C0023786 semapv:UnspecifiedMatching -orphanet.ordo:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:58 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching -orphanet.ordo:58 Alexander disease oboInOwl:hasDbXref MeSH:D038261 semapv:UnspecifiedMatching -orphanet.ordo:58 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching -orphanet.ordo:58 Alexander disease oboInOwl:hasDbXref UMLS:C0270726 semapv:UnspecifiedMatching -orphanet.ordo:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching -orphanet.ordo:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching -orphanet.ordo:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MeSH:D016532 semapv:UnspecifiedMatching -orphanet.ordo:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MedDRA:10056889 semapv:UnspecifiedMatching -orphanet.ordo:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching -orphanet.ordo:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref UMLS:C0026705 semapv:UnspecifiedMatching -orphanet.ordo:58017 Classic hairy cell leukemia oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching -orphanet.ordo:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MESH:D007943 semapv:UnspecifiedMatching -orphanet.ordo:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MeSH:D007943 semapv:UnspecifiedMatching -orphanet.ordo:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MedDRA:10019053 semapv:UnspecifiedMatching -orphanet.ordo:58017 Classic hairy cell leukemia oboInOwl:hasDbXref UMLS:C0023443 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.0 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.1 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.3 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.6 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.7 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.8 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref MESH:D018215 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref MeSH:D018215 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref MedDRA:10004430 semapv:UnspecifiedMatching -orphanet.ordo:58040 Osteoblastoma oboInOwl:hasDbXref UMLS:C0029417 semapv:UnspecifiedMatching -orphanet.ordo:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching -orphanet.ordo:580933 Lethal brain and heart developmental defects oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref OMIM:617982 semapv:UnspecifiedMatching -orphanet.ordo:580951 Punctate inner choroidopathy oboInOwl:hasDbXref ICD10:H31.0 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MeSH:D009084 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MedDRA:10056890 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching -orphanet.ordo:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref UMLS:C0026706 semapv:UnspecifiedMatching -orphanet.ordo:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching -orphanet.ordo:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref UMLS:C0751381 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MeSH:D009085 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MedDRA:10028095 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:252300 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching -orphanet.ordo:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref UMLS:C0026707 semapv:UnspecifiedMatching -orphanet.ordo:58208 NON RARE IN EUROPE: Pericarditis oboInOwl:hasDbXref ICD10:I30 semapv:UnspecifiedMatching -orphanet.ordo:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching -orphanet.ordo:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MeSH:D009087 semapv:UnspecifiedMatching -orphanet.ordo:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MedDRA:10056892 semapv:UnspecifiedMatching -orphanet.ordo:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching -orphanet.ordo:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref UMLS:C0026709 semapv:UnspecifiedMatching -orphanet.ordo:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching -orphanet.ordo:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref ICD10:K55.0 semapv:UnspecifiedMatching -orphanet.ordo:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MESH:D016538 semapv:UnspecifiedMatching -orphanet.ordo:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MeSH:D016538 semapv:UnspecifiedMatching -orphanet.ordo:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MedDRA:10056893 semapv:UnspecifiedMatching -orphanet.ordo:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching -orphanet.ordo:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref UMLS:C0085132 semapv:UnspecifiedMatching -orphanet.ordo:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:585 Multiple sulfatase deficiency oboInOwl:hasDbXref OMIM:272200 semapv:UnspecifiedMatching -orphanet.ordo:585 Multiple sulfatase deficiency oboInOwl:hasDbXref UMLS:C0268263 semapv:UnspecifiedMatching -orphanet.ordo:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching -orphanet.ordo:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.0 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.1 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref MESH:D003550 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref MeSH:D003550 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref MedDRA:10011762 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref OMIM:219700 semapv:UnspecifiedMatching -orphanet.ordo:586 Cystic fibrosis oboInOwl:hasDbXref UMLS:C0010674 semapv:UnspecifiedMatching -orphanet.ordo:586130 Sporadic fatal insomnia oboInOwl:hasDbXref ICD10:A81.9 semapv:UnspecifiedMatching -orphanet.ordo:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching -orphanet.ordo:587 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 semapv:UnspecifiedMatching -orphanet.ordo:587 Muir-Torre syndrome oboInOwl:hasDbXref MeSH:D055653 semapv:UnspecifiedMatching -orphanet.ordo:587 Muir-Torre syndrome oboInOwl:hasDbXref MedDRA:10063042 semapv:UnspecifiedMatching -orphanet.ordo:587 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 semapv:UnspecifiedMatching -orphanet.ordo:587 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:253280 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:613150 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:613153 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:613154 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:615181 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:615350 semapv:UnspecifiedMatching -orphanet.ordo:588 Muscle-eye-brain disease oboInOwl:hasDbXref UMLS:C0457133 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref MESH:D009157 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref MeSH:D009157 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref MedDRA:10028417 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:159400 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:607085 semapv:UnspecifiedMatching -orphanet.ordo:589 Myasthenia gravis oboInOwl:hasDbXref UMLS:C0026896 semapv:UnspecifiedMatching -orphanet.ordo:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:618961 semapv:UnspecifiedMatching -orphanet.ordo:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:589515 PUM1-associated developmental disability-ataxia-seizure syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching -orphanet.ordo:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching -orphanet.ordo:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref OMIM:616139 semapv:UnspecifiedMatching -orphanet.ordo:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching -orphanet.ordo:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:589618 Dystonia 28 oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref OMIM:620186 semapv:UnspecifiedMatching -orphanet.ordo:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oboInOwl:hasDbXref OMIM:617991 semapv:UnspecifiedMatching -orphanet.ordo:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MESH:C537047 semapv:UnspecifiedMatching -orphanet.ordo:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MeSH:C537047 semapv:UnspecifiedMatching -orphanet.ordo:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching -orphanet.ordo:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref UMLS:C0795889 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MeSH:D020294 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254190 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254210 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254300 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:601462 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:603034 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:605809 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:608930 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:608931 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:610542 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:614198 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:614750 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616040 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616224 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616228 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616304 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616313 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616314 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616321 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616322 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616323 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616324 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616330 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617143 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617239 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:619461 semapv:UnspecifiedMatching -orphanet.ordo:590 Congenital myasthenic syndrome oboInOwl:hasDbXref UMLS:C0751882 semapv:UnspecifiedMatching -orphanet.ordo:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -orphanet.ordo:591 Furuncular myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching -orphanet.ordo:591 Furuncular myiasis oboInOwl:hasDbXref UMLS:C2931766 semapv:UnspecifiedMatching -orphanet.ordo:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref OMIM:160500 semapv:UnspecifiedMatching -orphanet.ordo:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:136900 semapv:UnspecifiedMatching -orphanet.ordo:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:264420 semapv:UnspecifiedMatching -orphanet.ordo:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref UMLS:C0339515 semapv:UnspecifiedMatching -orphanet.ordo:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching -orphanet.ordo:592 Macrophagic myofasciitis oboInOwl:hasDbXref MESH:C537829 semapv:UnspecifiedMatching -orphanet.ordo:592 Macrophagic myofasciitis oboInOwl:hasDbXref MeSH:C537829 semapv:UnspecifiedMatching -orphanet.ordo:592 Macrophagic myofasciitis oboInOwl:hasDbXref UMLS:C2931639 semapv:UnspecifiedMatching -orphanet.ordo:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref OMIM:615473 semapv:UnspecifiedMatching -orphanet.ordo:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref OMIM:617493 semapv:UnspecifiedMatching -orphanet.ordo:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching -orphanet.ordo:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching -orphanet.ordo:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching -orphanet.ordo:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching -orphanet.ordo:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -orphanet.ordo:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -orphanet.ordo:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching -orphanet.ordo:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching -orphanet.ordo:59298 Schilder disease oboInOwl:hasDbXref ICD10:G37.0 semapv:UnspecifiedMatching -orphanet.ordo:59298 Schilder disease oboInOwl:hasDbXref OMIM:272100 semapv:UnspecifiedMatching -orphanet.ordo:59298 Schilder disease oboInOwl:hasDbXref UMLS:C0007795 semapv:UnspecifiedMatching -orphanet.ordo:593 Myofibrillar myopathy oboInOwl:hasDbXref UMLS:C2678065 semapv:UnspecifiedMatching -orphanet.ordo:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref OMIM:607626 semapv:UnspecifiedMatching -orphanet.ordo:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref UMLS:C1843355 semapv:UnspecifiedMatching -orphanet.ordo:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MESH:D031901 semapv:UnspecifiedMatching -orphanet.ordo:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MeSH:D031901 semapv:UnspecifiedMatching -orphanet.ordo:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MedDRA:10061988 semapv:UnspecifiedMatching -orphanet.ordo:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching -orphanet.ordo:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching -orphanet.ordo:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref UMLS:C0398568 semapv:UnspecifiedMatching -orphanet.ordo:59315 Rhombencephalosynapsis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:59315 Rhombencephalosynapsis oboInOwl:hasDbXref UMLS:C1866130 semapv:UnspecifiedMatching -orphanet.ordo:595 Centronuclear myopathy oboInOwl:hasDbXref UMLS:C0175709 semapv:UnspecifiedMatching -orphanet.ordo:595098 Timothy syndrome type 1 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:595105 Timothy syndrome type 2 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:595109 Atypical Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching -orphanet.ordo:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:596 X-linked centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:596 X-linked centronuclear myopathy oboInOwl:hasDbXref MESH:C538647 semapv:UnspecifiedMatching -orphanet.ordo:596 X-linked centronuclear myopathy oboInOwl:hasDbXref MeSH:C538647 semapv:UnspecifiedMatching -orphanet.ordo:596 X-linked centronuclear myopathy oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching -orphanet.ordo:596 X-linked centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410203 semapv:UnspecifiedMatching -orphanet.ordo:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:596448 IgG4-related systemic disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:596753 VEXAS syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:596753 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 semapv:UnspecifiedMatching -orphanet.ordo:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching -orphanet.ordo:597 Central core disease oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:597 Central core disease oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching -orphanet.ordo:597 Central core disease oboInOwl:hasDbXref UMLS:C0751951 semapv:UnspecifiedMatching -orphanet.ordo:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref OMIM:618088 semapv:UnspecifiedMatching -orphanet.ordo:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref OMIM:619165 semapv:UnspecifiedMatching -orphanet.ordo:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref OMIM:618367 semapv:UnspecifiedMatching -orphanet.ordo:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -orphanet.ordo:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref OMIM:145680 semapv:UnspecifiedMatching -orphanet.ordo:598 Multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching -orphanet.ordo:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching -orphanet.ordo:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching -orphanet.ordo:598 Multiminicore myopathy oboInOwl:hasDbXref UMLS:C0270962 semapv:UnspecifiedMatching -orphanet.ordo:598164 FOXG1 syndrome due to intragenic alteration oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C65 semapv:UnspecifiedMatching -orphanet.ordo:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C66 semapv:UnspecifiedMatching -orphanet.ordo:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref ICD10:U10.9 semapv:UnspecifiedMatching -orphanet.ordo:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref OMIM:618381 semapv:UnspecifiedMatching -orphanet.ordo:599 Distal myopathy oboInOwl:hasDbXref UMLS:C0751336 semapv:UnspecifiedMatching -orphanet.ordo:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:618205 semapv:UnspecifiedMatching -orphanet.ordo:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:599376 Hypomyelination of early myelinating structures oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching -orphanet.ordo:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching -orphanet.ordo:599480 Acquired hemophilia A oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599485 Acquired hemophilia B oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599490 Acquired factor V deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599495 Acquired factor VII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599501 Acquired factor X deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599507 Acquired factor XI deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599519 Factor V short isoforms-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:599579 Factor V Amsterdam bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref MESH:C535308 semapv:UnspecifiedMatching -orphanet.ordo:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref MeSH:C535308 semapv:UnspecifiedMatching -orphanet.ordo:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching -orphanet.ordo:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching -orphanet.ordo:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref UMLS:C0268600 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MESH:C531610 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MeSH:C531610 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MeSH:D019896 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MedDRA:10001806 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching -orphanet.ordo:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C3501835 semapv:UnspecifiedMatching -orphanet.ordo:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref OMIM:606070 semapv:UnspecifiedMatching -orphanet.ordo:60014 Argyria oboInOwl:hasDbXref ICD10:T56.8 semapv:UnspecifiedMatching -orphanet.ordo:60014 Argyria oboInOwl:hasDbXref MESH:D001129 semapv:UnspecifiedMatching -orphanet.ordo:60014 Argyria oboInOwl:hasDbXref MeSH:D001129 semapv:UnspecifiedMatching -orphanet.ordo:60014 Argyria oboInOwl:hasDbXref MedDRA:10003094 semapv:UnspecifiedMatching -orphanet.ordo:60014 Argyria oboInOwl:hasDbXref UMLS:C0003782 semapv:UnspecifiedMatching -orphanet.ordo:60015 Enlarged parietal foramina oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching -orphanet.ordo:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:168500 semapv:UnspecifiedMatching -orphanet.ordo:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:609566 semapv:UnspecifiedMatching -orphanet.ordo:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:609597 semapv:UnspecifiedMatching -orphanet.ordo:60015 Enlarged parietal foramina oboInOwl:hasDbXref UMLS:C1868598 semapv:UnspecifiedMatching -orphanet.ordo:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref MedDRA:10037315 semapv:UnspecifiedMatching -orphanet.ordo:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 semapv:UnspecifiedMatching -orphanet.ordo:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C0155912 semapv:UnspecifiedMatching -orphanet.ordo:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching -orphanet.ordo:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref OMIM:178610 semapv:UnspecifiedMatching -orphanet.ordo:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching -orphanet.ordo:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching -orphanet.ordo:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C2697932 semapv:UnspecifiedMatching -orphanet.ordo:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching -orphanet.ordo:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MESH:C535297 semapv:UnspecifiedMatching -orphanet.ordo:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MeSH:C535297 semapv:UnspecifiedMatching -orphanet.ordo:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MedDRA:10059314 semapv:UnspecifiedMatching -orphanet.ordo:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref UMLS:C1168198 semapv:UnspecifiedMatching -orphanet.ordo:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref ICD10:J47 semapv:UnspecifiedMatching -orphanet.ordo:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching -orphanet.ordo:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatching -orphanet.ordo:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching -orphanet.ordo:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref UMLS:C0339985 semapv:UnspecifiedMatching -orphanet.ordo:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching -orphanet.ordo:60039 Pudendal neuralgia oboInOwl:hasDbXref MESH:D060545 semapv:UnspecifiedMatching -orphanet.ordo:60039 Pudendal neuralgia oboInOwl:hasDbXref MeSH:D060545 semapv:UnspecifiedMatching -orphanet.ordo:60039 Pudendal neuralgia oboInOwl:hasDbXref UMLS:C1997249 semapv:UnspecifiedMatching -orphanet.ordo:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:602501 semapv:UnspecifiedMatching -orphanet.ordo:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref UMLS:C1865285 semapv:UnspecifiedMatching -orphanet.ordo:60041 Congenital heart block oboInOwl:hasDbXref ICD10:Q24.6 semapv:UnspecifiedMatching -orphanet.ordo:60041 Congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:UnspecifiedMatching -orphanet.ordo:60041 Congenital heart block oboInOwl:hasDbXref MeSH:C535758 semapv:UnspecifiedMatching -orphanet.ordo:60041 Congenital heart block oboInOwl:hasDbXref MedDRA:10019263 semapv:UnspecifiedMatching -orphanet.ordo:60041 Congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching -orphanet.ordo:60041 Congenital heart block oboInOwl:hasDbXref UMLS:C0149530 semapv:UnspecifiedMatching -orphanet.ordo:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching -orphanet.ordo:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref OMIM:614325 semapv:UnspecifiedMatching -orphanet.ordo:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:600691 Combined deficiency of factor VII and factor X oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref OMIM:617752 semapv:UnspecifiedMatching -orphanet.ordo:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2931130 semapv:UnspecifiedMatching -orphanet.ordo:600832 Legionellosis oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching -orphanet.ordo:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:600998 Non-syndromic cloacal malformation oboInOwl:hasDbXref ICD10:Q43.7 semapv:UnspecifiedMatching -orphanet.ordo:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching -orphanet.ordo:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching -orphanet.ordo:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching -orphanet.ordo:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching -orphanet.ordo:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching -orphanet.ordo:601018 Non-syndromic anorectal malformation with rectal atresia oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:601023 Non-syndromic anorectal malformation with rectal stenosis oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching -orphanet.ordo:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching -orphanet.ordo:602 GNE myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:602 GNE myopathy oboInOwl:hasDbXref MESH:C536816 semapv:UnspecifiedMatching -orphanet.ordo:602 GNE myopathy oboInOwl:hasDbXref MeSH:C536816 semapv:UnspecifiedMatching -orphanet.ordo:602 GNE myopathy oboInOwl:hasDbXref OMIM:605820 semapv:UnspecifiedMatching -orphanet.ordo:602 GNE myopathy oboInOwl:hasDbXref OMIM:617158 semapv:UnspecifiedMatching -orphanet.ordo:602 GNE myopathy oboInOwl:hasDbXref UMLS:C1853926 semapv:UnspecifiedMatching -orphanet.ordo:603 Distal myopathy, Welander type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:603 Distal myopathy, Welander type oboInOwl:hasDbXref MESH:C536690 semapv:UnspecifiedMatching -orphanet.ordo:603 Distal myopathy, Welander type oboInOwl:hasDbXref MeSH:C536690 semapv:UnspecifiedMatching -orphanet.ordo:603 Distal myopathy, Welander type oboInOwl:hasDbXref OMIM:604454 semapv:UnspecifiedMatching -orphanet.ordo:603 Distal myopathy, Welander type oboInOwl:hasDbXref UMLS:C0221054 semapv:UnspecifiedMatching -orphanet.ordo:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref OMIM:619273 semapv:UnspecifiedMatching -orphanet.ordo:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome oboInOwl:hasDbXref OMIM:617306 semapv:UnspecifiedMatching -orphanet.ordo:603515 Isolated female hypospadias oboInOwl:hasDbXref ICD10:Q54.8 semapv:UnspecifiedMatching -orphanet.ordo:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:603689 KLHL7-related Bohring-Opitz-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:606 Proximal myotonic myopathy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:606 Proximal myotonic myopathy oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching -orphanet.ordo:606 Proximal myotonic myopathy oboInOwl:hasDbXref MeSH:D020967 semapv:UnspecifiedMatching -orphanet.ordo:606 Proximal myotonic myopathy oboInOwl:hasDbXref OMIM:602668 semapv:UnspecifiedMatching -orphanet.ordo:606 Proximal myotonic myopathy oboInOwl:hasDbXref UMLS:C2931689 semapv:UnspecifiedMatching -orphanet.ordo:607 Nemaline myopathy oboInOwl:hasDbXref MESH:D017696 semapv:UnspecifiedMatching -orphanet.ordo:607 Nemaline myopathy oboInOwl:hasDbXref MeSH:D017696 semapv:UnspecifiedMatching -orphanet.ordo:607 Nemaline myopathy oboInOwl:hasDbXref UMLS:C0206157 semapv:UnspecifiedMatching -orphanet.ordo:609 Tibial muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:609 Tibial muscular dystrophy oboInOwl:hasDbXref MESH:C536815 semapv:UnspecifiedMatching -orphanet.ordo:609 Tibial muscular dystrophy oboInOwl:hasDbXref MeSH:C536815 semapv:UnspecifiedMatching -orphanet.ordo:609 Tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 semapv:UnspecifiedMatching -orphanet.ordo:609 Tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1450052 semapv:UnspecifiedMatching -orphanet.ordo:61 Alpha-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:61 Alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 semapv:UnspecifiedMatching -orphanet.ordo:61 Alpha-mannosidosis oboInOwl:hasDbXref MeSH:D008363 semapv:UnspecifiedMatching -orphanet.ordo:61 Alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching -orphanet.ordo:61 Alpha-mannosidosis oboInOwl:hasDbXref UMLS:C0024748 semapv:UnspecifiedMatching -orphanet.ordo:610 Bethlem myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:610 Bethlem myopathy oboInOwl:hasDbXref MESH:C535436 semapv:UnspecifiedMatching -orphanet.ordo:610 Bethlem myopathy oboInOwl:hasDbXref MeSH:C535436 semapv:UnspecifiedMatching -orphanet.ordo:610 Bethlem myopathy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching -orphanet.ordo:610 Bethlem myopathy oboInOwl:hasDbXref OMIM:616471 semapv:UnspecifiedMatching -orphanet.ordo:610 Bethlem myopathy oboInOwl:hasDbXref UMLS:C1834674 semapv:UnspecifiedMatching -orphanet.ordo:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:617822 semapv:UnspecifiedMatching -orphanet.ordo:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:619173 semapv:UnspecifiedMatching -orphanet.ordo:611 Inclusion body myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching -orphanet.ordo:611 Inclusion body myositis oboInOwl:hasDbXref MedDRA:10066407 semapv:UnspecifiedMatching -orphanet.ordo:611 Inclusion body myositis oboInOwl:hasDbXref OMIM:147421 semapv:UnspecifiedMatching -orphanet.ordo:611 Inclusion body myositis oboInOwl:hasDbXref UMLS:C0238190 semapv:UnspecifiedMatching -orphanet.ordo:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:619318 semapv:UnspecifiedMatching -orphanet.ordo:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome oboInOwl:hasDbXref OMIM:619260 semapv:UnspecifiedMatching -orphanet.ordo:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref OMIM:619151 semapv:UnspecifiedMatching -orphanet.ordo:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref OMIM:619217 semapv:UnspecifiedMatching -orphanet.ordo:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref OMIM:619218 semapv:UnspecifiedMatching -orphanet.ordo:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching -orphanet.ordo:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref OMIM:619279 semapv:UnspecifiedMatching -orphanet.ordo:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref OMIM:617695 semapv:UnspecifiedMatching -orphanet.ordo:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref OMIM:618266 semapv:UnspecifiedMatching -orphanet.ordo:612 Potassium-aggravated myotonia oboInOwl:hasDbXref MESH:C538353 semapv:UnspecifiedMatching -orphanet.ordo:612 Potassium-aggravated myotonia oboInOwl:hasDbXref MeSH:C538353 semapv:UnspecifiedMatching -orphanet.ordo:612 Potassium-aggravated myotonia oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching -orphanet.ordo:612 Potassium-aggravated myotonia oboInOwl:hasDbXref UMLS:C2931826 semapv:UnspecifiedMatching -orphanet.ordo:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref OMIM:618606 semapv:UnspecifiedMatching -orphanet.ordo:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref OMIM:619301 semapv:UnspecifiedMatching -orphanet.ordo:614 Thomsen and Becker disease oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:614 Thomsen and Becker disease oboInOwl:hasDbXref MedDRA:10028655 semapv:UnspecifiedMatching -orphanet.ordo:614 Thomsen and Becker disease oboInOwl:hasDbXref MedDRA:10043461 semapv:UnspecifiedMatching -orphanet.ordo:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:160800 semapv:UnspecifiedMatching -orphanet.ordo:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching -orphanet.ordo:615 Familial atrial myxoma oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching -orphanet.ordo:615 Familial atrial myxoma oboInOwl:hasDbXref MESH:C538262 semapv:UnspecifiedMatching -orphanet.ordo:615 Familial atrial myxoma oboInOwl:hasDbXref MeSH:C538262 semapv:UnspecifiedMatching -orphanet.ordo:615 Familial atrial myxoma oboInOwl:hasDbXref OMIM:255960 semapv:UnspecifiedMatching -orphanet.ordo:615 Familial atrial myxoma oboInOwl:hasDbXref UMLS:C1850635 semapv:UnspecifiedMatching -orphanet.ordo:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref OMIM:619338 semapv:UnspecifiedMatching -orphanet.ordo:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref UMLS:C5543440 semapv:UnspecifiedMatching -orphanet.ordo:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 semapv:UnspecifiedMatching -orphanet.ordo:615943 Granuloma faciale oboInOwl:hasDbXref MedDRA:C0239495 semapv:UnspecifiedMatching -orphanet.ordo:615943 Granuloma faciale oboInOwl:hasDbXref UMLS:C0239495 semapv:UnspecifiedMatching -orphanet.ordo:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching -orphanet.ordo:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref UMLS:C5394137 semapv:UnspecifiedMatching -orphanet.ordo:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref OMIM:618384 semapv:UnspecifiedMatching -orphanet.ordo:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref UMLS:C5193068 semapv:UnspecifiedMatching -orphanet.ordo:615970 Chronic intervillositis of unknown etiology oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching -orphanet.ordo:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching -orphanet.ordo:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching -orphanet.ordo:616 Medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching -orphanet.ordo:616 Medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching -orphanet.ordo:616 Medulloblastoma oboInOwl:hasDbXref MeSH:D008527 semapv:UnspecifiedMatching -orphanet.ordo:616 Medulloblastoma oboInOwl:hasDbXref MedDRA:10027107 semapv:UnspecifiedMatching -orphanet.ordo:616 Medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching -orphanet.ordo:616 Medulloblastoma oboInOwl:hasDbXref UMLS:C0025149 semapv:UnspecifiedMatching -orphanet.ordo:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref ICD10:R69 semapv:UnspecifiedMatching -orphanet.ordo:617 Congenital primary megaureter oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching -orphanet.ordo:617294 Twin anemia-polycythemia sequence oboInOwl:hasDbXref ICD10:031.8 semapv:UnspecifiedMatching -orphanet.ordo:617297 Twin-reversed arterial perfusion sequence oboInOwl:hasDbXref ICD10:031.8 semapv:UnspecifiedMatching -orphanet.ordo:617301 Selective intrauterine growth restriction oboInOwl:hasDbXref ICD10:031.8 semapv:UnspecifiedMatching -orphanet.ordo:617304 Amniotic fluid embolism oboInOwl:hasDbXref ICD10:O88.1 semapv:UnspecifiedMatching -orphanet.ordo:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching -orphanet.ordo:617440 Painful legs and moving toes syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching -orphanet.ordo:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref ICD10:C69.0 semapv:UnspecifiedMatching -orphanet.ordo:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref UMLS:C0346360 semapv:UnspecifiedMatching -orphanet.ordo:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching -orphanet.ordo:617930 Hemophilia B Leyden oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:155600 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:155601 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:155700 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:608035 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:609048 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:613099 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:613972 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:615134 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref OMIM:615848 semapv:UnspecifiedMatching -orphanet.ordo:618 Familial melanoma oboInOwl:hasDbXref UMLS:C2314896 semapv:UnspecifiedMatching -orphanet.ordo:618891 Chronic neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:619 NON RARE IN EUROPE: Primary ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching -orphanet.ordo:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617101 semapv:UnspecifiedMatching -orphanet.ordo:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching -orphanet.ordo:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching -orphanet.ordo:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -orphanet.ordo:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C5680416 semapv:UnspecifiedMatching -orphanet.ordo:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:619972 CADINS disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref OMIM:617744 semapv:UnspecifiedMatching -orphanet.ordo:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref OMIM:608099 semapv:UnspecifiedMatching -orphanet.ordo:620 NON RARE IN EUROPE: Common mesentery oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching -orphanet.ordo:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching -orphanet.ordo:620217 Bartter syndrome type 1 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:620220 Bartter syndrome type 2 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref OMIM:616418 semapv:UnspecifiedMatching -orphanet.ordo:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching -orphanet.ordo:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref UMLS:C5681825 semapv:UnspecifiedMatching -orphanet.ordo:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:621 Hereditary methemoglobinemia oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching -orphanet.ordo:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250700 semapv:UnspecifiedMatching -orphanet.ordo:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250790 semapv:UnspecifiedMatching -orphanet.ordo:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250800 semapv:UnspecifiedMatching -orphanet.ordo:621 Hereditary methemoglobinemia oboInOwl:hasDbXref UMLS:C0272087 semapv:UnspecifiedMatching -orphanet.ordo:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref OMIM:618278 semapv:UnspecifiedMatching -orphanet.ordo:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching -orphanet.ordo:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching -orphanet.ordo:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -orphanet.ordo:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref ICD10:K31.5 semapv:UnspecifiedMatching -orphanet.ordo:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref ICD10:I71.1 semapv:UnspecifiedMatching -orphanet.ordo:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:623626 Paraneoplastic cerebellar degeneration oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching -orphanet.ordo:623789 Body integrity dysphoria oboInOwl:hasDbXref ICD10:F45.2 semapv:UnspecifiedMatching -orphanet.ordo:623801 Acute flaccid myelitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:624 Familial multiple nevi flammei oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:624 Familial multiple nevi flammei oboInOwl:hasDbXref MESH:D019339 semapv:UnspecifiedMatching -orphanet.ordo:624 Familial multiple nevi flammei oboInOwl:hasDbXref MeSH:D019339 semapv:UnspecifiedMatching -orphanet.ordo:624 Familial multiple nevi flammei oboInOwl:hasDbXref MedDRA:10067193 semapv:UnspecifiedMatching -orphanet.ordo:624 Familial multiple nevi flammei oboInOwl:hasDbXref OMIM:163000 semapv:UnspecifiedMatching -orphanet.ordo:624 Familial multiple nevi flammei oboInOwl:hasDbXref UMLS:C2931029 semapv:UnspecifiedMatching -orphanet.ordo:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:624244 Postinfectious cerebellitis oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:625 NON RARE IN EUROPE: Atypical mole oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching -orphanet.ordo:626 Large congenital melanocytic nevus oboInOwl:hasDbXref ICD10:D22.9 semapv:UnspecifiedMatching -orphanet.ordo:626 Large congenital melanocytic nevus oboInOwl:hasDbXref MedDRA:10072036 semapv:UnspecifiedMatching -orphanet.ordo:626 Large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 semapv:UnspecifiedMatching -orphanet.ordo:627 Nance-Horan syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:627 Nance-Horan syndrome oboInOwl:hasDbXref MESH:C538336 semapv:UnspecifiedMatching -orphanet.ordo:627 Nance-Horan syndrome oboInOwl:hasDbXref MeSH:C538336 semapv:UnspecifiedMatching -orphanet.ordo:627 Nance-Horan syndrome oboInOwl:hasDbXref OMIM:302350 semapv:UnspecifiedMatching -orphanet.ordo:627 Nance-Horan syndrome oboInOwl:hasDbXref UMLS:C0796085 semapv:UnspecifiedMatching -orphanet.ordo:628 Diastrophic dysplasia oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching -orphanet.ordo:628 Diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching -orphanet.ordo:628 Diastrophic dysplasia oboInOwl:hasDbXref UMLS:C0220726 semapv:UnspecifiedMatching -orphanet.ordo:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref OMIM:262650 semapv:UnspecifiedMatching -orphanet.ordo:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref UMLS:C1849779 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref MESH:D009394 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref MeSH:D009394 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref MedDRA:10001843 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching -orphanet.ordo:63 Alport syndrome oboInOwl:hasDbXref UMLS:C1567741 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref MedDRA:10035083 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:262650 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching -orphanet.ordo:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching -orphanet.ordo:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching -orphanet.ordo:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:631248 Mitchell Syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:631248 Mitchell Syndrome oboInOwl:hasDbXref OMIM:618960 semapv:UnspecifiedMatching -orphanet.ordo:631251 Cancer of unknown primary site oboInOwl:hasDbXref ICD10:C80.0 semapv:UnspecifiedMatching -orphanet.ordo:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching -orphanet.ordo:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C0472813 semapv:UnspecifiedMatching -orphanet.ordo:63259 Iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching -orphanet.ordo:63259 Iniencephaly oboInOwl:hasDbXref MedDRA:10022034 semapv:UnspecifiedMatching -orphanet.ordo:63259 Iniencephaly oboInOwl:hasDbXref UMLS:C0152234 semapv:UnspecifiedMatching -orphanet.ordo:63260 Craniorachischisis oboInOwl:hasDbXref ICD10:Q00.1 semapv:UnspecifiedMatching -orphanet.ordo:63260 Craniorachischisis oboInOwl:hasDbXref MedDRA:10011321 semapv:UnspecifiedMatching -orphanet.ordo:63260 Craniorachischisis oboInOwl:hasDbXref UMLS:C0152426 semapv:UnspecifiedMatching -orphanet.ordo:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619297 semapv:UnspecifiedMatching -orphanet.ordo:63261 HERNS syndrome oboInOwl:hasDbXref ICD10:I67.3 semapv:UnspecifiedMatching -orphanet.ordo:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref OMIM:201750 semapv:UnspecifiedMatching -orphanet.ordo:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref OMIM:614065 semapv:UnspecifiedMatching -orphanet.ordo:63275 Pemphigoid gestationis oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching -orphanet.ordo:63275 Pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 semapv:UnspecifiedMatching -orphanet.ordo:63275 Pemphigoid gestationis oboInOwl:hasDbXref MeSH:D006559 semapv:UnspecifiedMatching -orphanet.ordo:63275 Pemphigoid gestationis oboInOwl:hasDbXref MedDRA:10019939 semapv:UnspecifiedMatching -orphanet.ordo:63275 Pemphigoid gestationis oboInOwl:hasDbXref UMLS:C0019343 semapv:UnspecifiedMatching -orphanet.ordo:633 Laron syndrome oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:633 Laron syndrome oboInOwl:hasDbXref MESH:D046150 semapv:UnspecifiedMatching -orphanet.ordo:633 Laron syndrome oboInOwl:hasDbXref MeSH:D046150 semapv:UnspecifiedMatching -orphanet.ordo:633 Laron syndrome oboInOwl:hasDbXref OMIM:262500 semapv:UnspecifiedMatching -orphanet.ordo:633 Laron syndrome oboInOwl:hasDbXref UMLS:C0271568 semapv:UnspecifiedMatching -orphanet.ordo:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref OMIM:619255 semapv:UnspecifiedMatching -orphanet.ordo:633076 Split cord malformation, composite type oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching -orphanet.ordo:633099 PAICS deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:633099 PAICS deficiency oboInOwl:hasDbXref OMIM:619859 semapv:UnspecifiedMatching -orphanet.ordo:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching -orphanet.ordo:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:633228 Proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:634 Netherton syndrome oboInOwl:hasDbXref MedDRA:10062909 semapv:UnspecifiedMatching -orphanet.ordo:634 Netherton syndrome oboInOwl:hasDbXref OMIM:256500 semapv:UnspecifiedMatching -orphanet.ordo:634 Netherton syndrome oboInOwl:hasDbXref UMLS:C0265962 semapv:UnspecifiedMatching -orphanet.ordo:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10066017 semapv:UnspecifiedMatching -orphanet.ordo:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref OMIM:105835 semapv:UnspecifiedMatching -orphanet.ordo:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C1739384 semapv:UnspecifiedMatching -orphanet.ordo:63443 Rare epithelial tumor of stomach oboInOwl:hasDbXref MedDRA:10017758 semapv:UnspecifiedMatching -orphanet.ordo:63443 Rare epithelial tumor of stomach oboInOwl:hasDbXref UMLS:C0024623 semapv:UnspecifiedMatching -orphanet.ordo:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref OMIM:607778 semapv:UnspecifiedMatching -orphanet.ordo:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref UMLS:C1843096 semapv:UnspecifiedMatching -orphanet.ordo:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:634492 Mosaic schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:634511 Mosaic Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:63454 Pattern dystrophy oboInOwl:hasDbXref MESH:C536309 semapv:UnspecifiedMatching -orphanet.ordo:63454 Pattern dystrophy oboInOwl:hasDbXref MeSH:C536309 semapv:UnspecifiedMatching -orphanet.ordo:63454 Pattern dystrophy oboInOwl:hasDbXref UMLS:C1868569 semapv:UnspecifiedMatching -orphanet.ordo:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching -orphanet.ordo:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref MedDRA:10057056 semapv:UnspecifiedMatching -orphanet.ordo:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref UMLS:C1112570 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref ICD10:C74.9 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref MESH:C536408 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref MESH:D009447 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref MeSH:C536408 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref MeSH:D009447 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref MedDRA:10029260 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:256700 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613013 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613014 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613015 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613016 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613017 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref OMIM:616792 semapv:UnspecifiedMatching -orphanet.ordo:635 Neuroblastoma oboInOwl:hasDbXref UMLS:C0027819 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MESH:C538607 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MESH:D009456 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MeSH:C538607 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MeSH:D009456 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MedDRA:10047712 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching -orphanet.ordo:636 Neurofibromatosis type 1 oboInOwl:hasDbXref UMLS:C0027831 semapv:UnspecifiedMatching -orphanet.ordo:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:618343 semapv:UnspecifiedMatching -orphanet.ordo:636945 Invasive Candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching -orphanet.ordo:636945 Invasive Candidiasis oboInOwl:hasDbXref MESH:C536777 semapv:UnspecifiedMatching -orphanet.ordo:636945 Invasive Candidiasis oboInOwl:hasDbXref MeSH:C536777 semapv:UnspecifiedMatching -orphanet.ordo:636945 Invasive Candidiasis oboInOwl:hasDbXref UMLS:C0153252 semapv:UnspecifiedMatching -orphanet.ordo:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref ICD10:H40.4 semapv:UnspecifiedMatching -orphanet.ordo:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref UMLS:C0152138 semapv:UnspecifiedMatching -orphanet.ordo:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.3 semapv:UnspecifiedMatching -orphanet.ordo:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263314 semapv:UnspecifiedMatching -orphanet.ordo:636965 Autosomal dominant myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching -orphanet.ordo:636970 Autosomal recessive myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MESH:D009464 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MESH:D016518 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MeSH:D009464 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MeSH:D016518 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MedDRA:10029271 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching -orphanet.ordo:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref UMLS:C0027832 semapv:UnspecifiedMatching -orphanet.ordo:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619293 semapv:UnspecifiedMatching -orphanet.ordo:637051 Borna virus encephalitis oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching -orphanet.ordo:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref MESH:C563492 semapv:UnspecifiedMatching -orphanet.ordo:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref MeSH:C563492 semapv:UnspecifiedMatching -orphanet.ordo:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C4510723 semapv:UnspecifiedMatching -orphanet.ordo:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:D009456 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MeSH:C537393 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MeSH:D009456 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching -orphanet.ordo:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS:C2931482 semapv:UnspecifiedMatching -orphanet.ordo:63862 Schisis association oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:63862 Schisis association oboInOwl:hasDbXref MESH:C536633 semapv:UnspecifiedMatching -orphanet.ordo:63862 Schisis association oboInOwl:hasDbXref MeSH:C536633 semapv:UnspecifiedMatching -orphanet.ordo:63862 Schisis association oboInOwl:hasDbXref UMLS:C2931271 semapv:UnspecifiedMatching -orphanet.ordo:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG oboInOwl:hasDbXref UMLS:C1736154 semapv:UnspecifiedMatching -orphanet.ordo:63999 IgG4-related mediastinitis oboInOwl:hasDbXref ICD10:J98.5 semapv:UnspecifiedMatching -orphanet.ordo:63999 IgG4-related mediastinitis oboInOwl:hasDbXref MESH:C536136 semapv:UnspecifiedMatching -orphanet.ordo:63999 IgG4-related mediastinitis oboInOwl:hasDbXref MeSH:C536136 semapv:UnspecifiedMatching -orphanet.ordo:63999 IgG4-related mediastinitis oboInOwl:hasDbXref MedDRA:10027074 semapv:UnspecifiedMatching -orphanet.ordo:63999 IgG4-related mediastinitis oboInOwl:hasDbXref UMLS:C0264573 semapv:UnspecifiedMatching -orphanet.ordo:64 Alström syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:64 Alström syndrome oboInOwl:hasDbXref MESH:D056769 semapv:UnspecifiedMatching -orphanet.ordo:64 Alström syndrome oboInOwl:hasDbXref MeSH:D056769 semapv:UnspecifiedMatching -orphanet.ordo:64 Alström syndrome oboInOwl:hasDbXref MedDRA:10068783 semapv:UnspecifiedMatching -orphanet.ordo:64 Alström syndrome oboInOwl:hasDbXref OMIM:203800 semapv:UnspecifiedMatching -orphanet.ordo:64 Alström syndrome oboInOwl:hasDbXref UMLS:C0268425 semapv:UnspecifiedMatching -orphanet.ordo:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MedDRA:10069382 semapv:UnspecifiedMatching -orphanet.ordo:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref OMIM:162500 semapv:UnspecifiedMatching -orphanet.ordo:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS:C0393814 semapv:UnspecifiedMatching -orphanet.ordo:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:641 Multifocal motor neuropathy oboInOwl:hasDbXref UMLS:C0393847 semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.0+ semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.1+ semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.8+ semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G05.0* semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07* semapv:UnspecifiedMatching -orphanet.ordo:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G63.0* semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching -orphanet.ordo:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching -orphanet.ordo:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 semapv:UnspecifiedMatching -orphanet.ordo:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref UMLS:C0020074 semapv:UnspecifiedMatching -orphanet.ordo:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref OMIM:618395 semapv:UnspecifiedMatching -orphanet.ordo:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref OMIM:271640 semapv:UnspecifiedMatching -orphanet.ordo:642691 Fragile X-associated primary ovarian insufficiency oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching -orphanet.ordo:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:600131 semapv:UnspecifiedMatching -orphanet.ordo:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:607681 semapv:UnspecifiedMatching -orphanet.ordo:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611136 semapv:UnspecifiedMatching -orphanet.ordo:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611942 semapv:UnspecifiedMatching -orphanet.ordo:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:612269 semapv:UnspecifiedMatching -orphanet.ordo:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:643 Giant axonal neuropathy oboInOwl:hasDbXref MESH:D056768 semapv:UnspecifiedMatching -orphanet.ordo:643 Giant axonal neuropathy oboInOwl:hasDbXref MeSH:D056768 semapv:UnspecifiedMatching -orphanet.ordo:643 Giant axonal neuropathy oboInOwl:hasDbXref OMIM:256850 semapv:UnspecifiedMatching -orphanet.ordo:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref OMIM:617602 semapv:UnspecifiedMatching -orphanet.ordo:643538 Hao-Fountain syndrome due to USP7 mutation oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching -orphanet.ordo:643549 Hao-Fountain syndrome oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching -orphanet.ordo:644 NARP syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:644 NARP syndrome oboInOwl:hasDbXref MedDRA:10062940 semapv:UnspecifiedMatching -orphanet.ordo:644 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching -orphanet.ordo:644 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 semapv:UnspecifiedMatching -orphanet.ordo:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching -orphanet.ordo:645202 Closed spinal dysraphism oboInOwl:hasDbXref UMLS:C0080174 semapv:UnspecifiedMatching -orphanet.ordo:645276 Spinal cord lipoma oboInOwl:hasDbXref UMLS:C0347446 semapv:UnspecifiedMatching -orphanet.ordo:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref UMLS:C4751188 semapv:UnspecifiedMatching -orphanet.ordo:645398 Myeloschisis oboInOwl:hasDbXref UMLS:C0266507 semapv:UnspecifiedMatching -orphanet.ordo:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:645613 Classical dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching -orphanet.ordo:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching -orphanet.ordo:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching -orphanet.ordo:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref UMLS:C0041316 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.0 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.1 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.2 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.3 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.4 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.5 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.6 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.7 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.8 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.0 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.1 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.2 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.3 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.4 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.5 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.7 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.8 semapv:UnspecifiedMatching -orphanet.ordo:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref UMLS:C0041327 semapv:UnspecifiedMatching -orphanet.ordo:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref ICD10:A18.0, semapv:UnspecifiedMatching -orphanet.ordo:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching -orphanet.ordo:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref UMLS:C0041309 semapv:UnspecifiedMatching -orphanet.ordo:645854 Multifocal tuberculosis oboInOwl:hasDbXref ICD10:A18.8 semapv:UnspecifiedMatching -orphanet.ordo:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref ICD10:A18.3 semapv:UnspecifiedMatching -orphanet.ordo:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref UMLS:C4543803 semapv:UnspecifiedMatching -orphanet.ordo:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching -orphanet.ordo:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref UMLS:C0041333 semapv:UnspecifiedMatching -orphanet.ordo:646 Niemann-Pick disease type C oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:646 Niemann-Pick disease type C oboInOwl:hasDbXref MESH:D052556 semapv:UnspecifiedMatching -orphanet.ordo:646 Niemann-Pick disease type C oboInOwl:hasDbXref MeSH:D052556 semapv:UnspecifiedMatching -orphanet.ordo:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:257220 semapv:UnspecifiedMatching -orphanet.ordo:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:607625 semapv:UnspecifiedMatching -orphanet.ordo:646 Niemann-Pick disease type C oboInOwl:hasDbXref UMLS:C0220756 semapv:UnspecifiedMatching -orphanet.ordo:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:646136 Dysplastic cortical hyperostosis, Al-Gazali type oboInOwl:hasDbXref OMIM:601356 semapv:UnspecifiedMatching -orphanet.ordo:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:C531833 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:D020333 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MeSH:C531833 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MeSH:D020333 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MedDRA:10051526 semapv:UnspecifiedMatching -orphanet.ordo:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref UMLS:C0040381 semapv:UnspecifiedMatching -orphanet.ordo:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching -orphanet.ordo:64692 Oroya fever oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching -orphanet.ordo:64692 Oroya fever oboInOwl:hasDbXref MeSH:D001474 semapv:UnspecifiedMatching -orphanet.ordo:64692 Oroya fever oboInOwl:hasDbXref UMLS:C0029307 semapv:UnspecifiedMatching -orphanet.ordo:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 semapv:UnspecifiedMatching -orphanet.ordo:64694 Trench fever oboInOwl:hasDbXref MESH:D014205 semapv:UnspecifiedMatching -orphanet.ordo:64694 Trench fever oboInOwl:hasDbXref MeSH:D014205 semapv:UnspecifiedMatching -orphanet.ordo:64694 Trench fever oboInOwl:hasDbXref MedDRA:10044582 semapv:UnspecifiedMatching -orphanet.ordo:64694 Trench fever oboInOwl:hasDbXref UMLS:C0040830 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:C531759 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MeSH:C531759 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MeSH:D049932 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MedDRA:10067857 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:UnspecifiedMatching -orphanet.ordo:647 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS:C0398791 semapv:UnspecifiedMatching -orphanet.ordo:64720 Leiomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:64720 Leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching -orphanet.ordo:64720 Leiomyosarcoma oboInOwl:hasDbXref MeSH:D007890 semapv:UnspecifiedMatching -orphanet.ordo:64720 Leiomyosarcoma oboInOwl:hasDbXref MedDRA:10024189 semapv:UnspecifiedMatching -orphanet.ordo:64720 Leiomyosarcoma oboInOwl:hasDbXref UMLS:C0023269 semapv:UnspecifiedMatching -orphanet.ordo:64722 Granulomatous mastitis oboInOwl:hasDbXref ICD10:N61 semapv:UnspecifiedMatching -orphanet.ordo:64722 Granulomatous mastitis oboInOwl:hasDbXref MESH:D058890 semapv:UnspecifiedMatching -orphanet.ordo:64722 Granulomatous mastitis oboInOwl:hasDbXref MeSH:D058890 semapv:UnspecifiedMatching -orphanet.ordo:64722 Granulomatous mastitis oboInOwl:hasDbXref UMLS:C0405469 semapv:UnspecifiedMatching -orphanet.ordo:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref ICD10:H21.1 semapv:UnspecifiedMatching -orphanet.ordo:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MESH:D057129 semapv:UnspecifiedMatching -orphanet.ordo:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MeSH:D057129 semapv:UnspecifiedMatching -orphanet.ordo:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MedDRA:10053678 semapv:UnspecifiedMatching -orphanet.ordo:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref UMLS:C1096100 semapv:UnspecifiedMatching -orphanet.ordo:64738 NON RARE IN EUROPE: Non rare thrombophilia oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching -orphanet.ordo:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref ICD10:N98.1 semapv:UnspecifiedMatching -orphanet.ordo:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 semapv:UnspecifiedMatching -orphanet.ordo:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MeSH:D016471 semapv:UnspecifiedMatching -orphanet.ordo:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MedDRA:10033266 semapv:UnspecifiedMatching -orphanet.ordo:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 semapv:UnspecifiedMatching -orphanet.ordo:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 semapv:UnspecifiedMatching -orphanet.ordo:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis oboInOwl:hasDbXref ICD10:K85 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref MESH:D018202 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref MeSH:D018202 semapv:UnspecifiedMatching -orphanet.ordo:64741 Pulmonary blastoma oboInOwl:hasDbXref UMLS:C0206629 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref MESH:C537516 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref MeSH:C537516 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching -orphanet.ordo:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref UMLS:C1266144 semapv:UnspecifiedMatching -orphanet.ordo:64743 Hepatoportal sclerosis oboInOwl:hasDbXref ICD10:K74.1 semapv:UnspecifiedMatching -orphanet.ordo:64744 IgG4-related thyroid disease oboInOwl:hasDbXref ICD10:E06.5 semapv:UnspecifiedMatching -orphanet.ordo:64744 IgG4-related thyroid disease oboInOwl:hasDbXref MedDRA:10039142 semapv:UnspecifiedMatching -orphanet.ordo:64744 IgG4-related thyroid disease oboInOwl:hasDbXref UMLS:C0154162 semapv:UnspecifiedMatching -orphanet.ordo:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref ICD10:O26.8 semapv:UnspecifiedMatching -orphanet.ordo:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MESH:C535817 semapv:UnspecifiedMatching -orphanet.ordo:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MeSH:C535817 semapv:UnspecifiedMatching -orphanet.ordo:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MedDRA:10066100 semapv:UnspecifiedMatching -orphanet.ordo:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref OMIM:178995 semapv:UnspecifiedMatching -orphanet.ordo:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref UMLS:C0269680 semapv:UnspecifiedMatching -orphanet.ordo:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C0270914 semapv:UnspecifiedMatching -orphanet.ordo:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref MESH:C538392 semapv:UnspecifiedMatching -orphanet.ordo:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref MeSH:C538392 semapv:UnspecifiedMatching -orphanet.ordo:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:145900 semapv:UnspecifiedMatching -orphanet.ordo:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:618184 semapv:UnspecifiedMatching -orphanet.ordo:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref UMLS:C0011195 semapv:UnspecifiedMatching -orphanet.ordo:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref OMIM:600361 semapv:UnspecifiedMatching -orphanet.ordo:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D000699 semapv:UnspecifiedMatching -orphanet.ordo:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MeSH:D000699 semapv:UnspecifiedMatching -orphanet.ordo:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 semapv:UnspecifiedMatching -orphanet.ordo:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0020075 semapv:UnspecifiedMatching -orphanet.ordo:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching -orphanet.ordo:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:606002 semapv:UnspecifiedMatching -orphanet.ordo:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:615217 semapv:UnspecifiedMatching -orphanet.ordo:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref OMIM:617025 semapv:UnspecifiedMatching -orphanet.ordo:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref UMLS:C0265987 semapv:UnspecifiedMatching -orphanet.ordo:64755 Becker nevus syndrome oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching -orphanet.ordo:64755 Becker nevus syndrome oboInOwl:hasDbXref OMIM:604919 semapv:UnspecifiedMatching -orphanet.ordo:64755 Becker nevus syndrome oboInOwl:hasDbXref UMLS:C1858042 semapv:UnspecifiedMatching -orphanet.ordo:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref OMIM:619127 semapv:UnspecifiedMatching -orphanet.ordo:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref OMIM:617719 semapv:UnspecifiedMatching -orphanet.ordo:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching -orphanet.ordo:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref OMIM:617804 semapv:UnspecifiedMatching -orphanet.ordo:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching -orphanet.ordo:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref OMIM:619164 semapv:UnspecifiedMatching -orphanet.ordo:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref OMIM:618280 semapv:UnspecifiedMatching -orphanet.ordo:647815 Keratoendotheliitis fugax hereditaria oboInOwl:hasDbXref OMIM:148200 semapv:UnspecifiedMatching -orphanet.ordo:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref MeSH:D009634 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref MedDRA:10029748 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:163950 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:605275 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:609942 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:610733 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:611553 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:613224 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:613706 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:615355 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:616559 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:616564 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:618499 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:618624 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:619087 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref OMIM:619745 semapv:UnspecifiedMatching -orphanet.ordo:648 Noonan syndrome oboInOwl:hasDbXref UMLS:C0028326 semapv:UnspecifiedMatching -orphanet.ordo:648562 Ferroportin Disease oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching -orphanet.ordo:649 Norrie disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:649 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching -orphanet.ordo:649 Norrie disease oboInOwl:hasDbXref MeSH:C537849 semapv:UnspecifiedMatching -orphanet.ordo:649 Norrie disease oboInOwl:hasDbXref MedDRA:10069760 semapv:UnspecifiedMatching -orphanet.ordo:649 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching -orphanet.ordo:649 Norrie disease oboInOwl:hasDbXref UMLS:C0266526 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref MESH:D057130 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref MeSH:D057130 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref MedDRA:10070667 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:179900 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:204000 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:204100 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604537 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:608553 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:610612 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:611755 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:612712 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613826 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613829 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613835 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613837 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613843 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:614186 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:615360 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:618513 semapv:UnspecifiedMatching -orphanet.ordo:65 Leber congenital amaurosis oboInOwl:hasDbXref UMLS:C0339527 semapv:UnspecifiedMatching -orphanet.ordo:650 LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:650 LCAT deficiency oboInOwl:hasDbXref OMIM:136120 semapv:UnspecifiedMatching -orphanet.ordo:650 LCAT deficiency oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching -orphanet.ordo:650 LCAT deficiency oboInOwl:hasDbXref UMLS:C0023195 semapv:UnspecifiedMatching -orphanet.ordo:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus oboInOwl:hasDbXref ICD10:H81.1 semapv:UnspecifiedMatching -orphanet.ordo:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 semapv:UnspecifiedMatching -orphanet.ordo:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MeSH:D018761 semapv:UnspecifiedMatching -orphanet.ordo:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MedDRA:10028190 semapv:UnspecifiedMatching -orphanet.ordo:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching -orphanet.ordo:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS:C0025267 semapv:UnspecifiedMatching -orphanet.ordo:65250 Perineural cyst oboInOwl:hasDbXref ICD10:G54.8 semapv:UnspecifiedMatching -orphanet.ordo:65250 Perineural cyst oboInOwl:hasDbXref UMLS:C0520720 semapv:UnspecifiedMatching -orphanet.ordo:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:605676 semapv:UnspecifiedMatching -orphanet.ordo:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:615821 semapv:UnspecifiedMatching -orphanet.ordo:65282 Carvajal syndrome oboInOwl:hasDbXref UMLS:C1854063 semapv:UnspecifiedMatching -orphanet.ordo:65283 Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching -orphanet.ordo:65283 Timothy syndrome oboInOwl:hasDbXref MESH:C536962 semapv:UnspecifiedMatching -orphanet.ordo:65283 Timothy syndrome oboInOwl:hasDbXref MeSH:C536962 semapv:UnspecifiedMatching -orphanet.ordo:65283 Timothy syndrome oboInOwl:hasDbXref OMIM:601005 semapv:UnspecifiedMatching -orphanet.ordo:65283 Timothy syndrome oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching -orphanet.ordo:65283 Timothy syndrome oboInOwl:hasDbXref UMLS:C1832916 semapv:UnspecifiedMatching -orphanet.ordo:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching -orphanet.ordo:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref MESH:C537658 semapv:UnspecifiedMatching -orphanet.ordo:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref MeSH:C537658 semapv:UnspecifiedMatching -orphanet.ordo:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching -orphanet.ordo:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref UMLS:C1843807 semapv:UnspecifiedMatching -orphanet.ordo:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching -orphanet.ordo:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref UMLS:C0391826 semapv:UnspecifiedMatching -orphanet.ordo:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref OMIM:609425 semapv:UnspecifiedMatching -orphanet.ordo:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2674949 semapv:UnspecifiedMatching -orphanet.ordo:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref OMIM:613161 semapv:UnspecifiedMatching -orphanet.ordo:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref UMLS:C1291512 semapv:UnspecifiedMatching -orphanet.ordo:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref OMIM:609069 semapv:UnspecifiedMatching -orphanet.ordo:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref UMLS:C1836780 semapv:UnspecifiedMatching -orphanet.ordo:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref MedDRA:10028191 semapv:UnspecifiedMatching -orphanet.ordo:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:155240 semapv:UnspecifiedMatching -orphanet.ordo:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching -orphanet.ordo:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching -orphanet.ordo:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref UMLS:C0025268 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref MESH:D009396 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref MeSH:D009396 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref MedDRA:10029145 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194070 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194071 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194090 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601363 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601583 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref OMIM:616806 semapv:UnspecifiedMatching -orphanet.ordo:654 Nephroblastoma oboInOwl:hasDbXref UMLS:C0027708 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:604387 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:606966 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:611498 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613159 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613820 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613824 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:614377 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615862 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching -orphanet.ordo:655 Nephronophthisis oboInOwl:hasDbXref UMLS:C0687120 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:256370 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:301028 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:600995 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:603278 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:603965 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:607832 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:610725 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:612551 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:613237 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:614131 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:614196 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615244 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615573 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615861 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616002 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616032 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616220 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616730 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616892 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616893 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618176 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618177 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618178 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619155 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619201 semapv:UnspecifiedMatching -orphanet.ordo:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C1868672 semapv:UnspecifiedMatching -orphanet.ordo:65681 Vaginal atresia oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching -orphanet.ordo:65681 Vaginal atresia oboInOwl:hasDbXref MedDRA:10046879 semapv:UnspecifiedMatching -orphanet.ordo:65681 Vaginal atresia oboInOwl:hasDbXref UMLS:C1321884 semapv:UnspecifiedMatching -orphanet.ordo:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching -orphanet.ordo:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching -orphanet.ordo:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching -orphanet.ordo:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0149841 semapv:UnspecifiedMatching -orphanet.ordo:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching -orphanet.ordo:65684 Monomelic amyotrophy oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching -orphanet.ordo:65684 Monomelic amyotrophy oboInOwl:hasDbXref MESH:C538253 semapv:UnspecifiedMatching -orphanet.ordo:65684 Monomelic amyotrophy oboInOwl:hasDbXref MeSH:C538253 semapv:UnspecifiedMatching -orphanet.ordo:65684 Monomelic amyotrophy oboInOwl:hasDbXref MedDRA:10069681 semapv:UnspecifiedMatching -orphanet.ordo:65684 Monomelic amyotrophy oboInOwl:hasDbXref OMIM:602440 semapv:UnspecifiedMatching -orphanet.ordo:65684 Monomelic amyotrophy oboInOwl:hasDbXref UMLS:C1865384 semapv:UnspecifiedMatching -orphanet.ordo:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref MESH:D044903 semapv:UnspecifiedMatching -orphanet.ordo:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref MeSH:D044903 semapv:UnspecifiedMatching -orphanet.ordo:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref UMLS:C3888018 semapv:UnspecifiedMatching -orphanet.ordo:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching -orphanet.ordo:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref OMIM:609128 semapv:UnspecifiedMatching -orphanet.ordo:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref UMLS:C1836756 semapv:UnspecifiedMatching -orphanet.ordo:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref OMIM:178110 semapv:UnspecifiedMatching -orphanet.ordo:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C1867440 semapv:UnspecifiedMatching -orphanet.ordo:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref ICD10:D48.5 semapv:UnspecifiedMatching -orphanet.ordo:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref OMIM:132800 semapv:UnspecifiedMatching -orphanet.ordo:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref UMLS:C0546476 semapv:UnspecifiedMatching -orphanet.ordo:65753 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0751036 semapv:UnspecifiedMatching -orphanet.ordo:65759 Carpenter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:65759 Carpenter syndrome oboInOwl:hasDbXref OMIM:201000 semapv:UnspecifiedMatching -orphanet.ordo:65759 Carpenter syndrome oboInOwl:hasDbXref OMIM:614976 semapv:UnspecifiedMatching -orphanet.ordo:65759 Carpenter syndrome oboInOwl:hasDbXref UMLS:C1275078 semapv:UnspecifiedMatching -orphanet.ordo:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:65798 Goodman syndrome oboInOwl:hasDbXref OMIM:201020 semapv:UnspecifiedMatching -orphanet.ordo:65798 Goodman syndrome oboInOwl:hasDbXref UMLS:C0265303 semapv:UnspecifiedMatching -orphanet.ordo:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MedDRA:10068842 semapv:UnspecifiedMatching -orphanet.ordo:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:300918 semapv:UnspecifiedMatching -orphanet.ordo:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:614594 semapv:UnspecifiedMatching -orphanet.ordo:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:619208 semapv:UnspecifiedMatching -orphanet.ordo:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref UMLS:C2609071 semapv:UnspecifiedMatching -orphanet.ordo:660 Omphalocele oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching -orphanet.ordo:660 Omphalocele oboInOwl:hasDbXref MedDRA:10030308 semapv:UnspecifiedMatching -orphanet.ordo:660 Omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatching -orphanet.ordo:660 Omphalocele oboInOwl:hasDbXref OMIM:310980 semapv:UnspecifiedMatching -orphanet.ordo:660 Omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref MedDRA:10007982 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref MedDRA:10066131 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:209880 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:619482 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:619483 semapv:UnspecifiedMatching -orphanet.ordo:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref UMLS:C1275808 semapv:UnspecifiedMatching -orphanet.ordo:662 Yellow nail syndrome oboInOwl:hasDbXref ICD10:L60.5 semapv:UnspecifiedMatching -orphanet.ordo:662 Yellow nail syndrome oboInOwl:hasDbXref MedDRA:10048244 semapv:UnspecifiedMatching -orphanet.ordo:662 Yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 semapv:UnspecifiedMatching -orphanet.ordo:662 Yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 semapv:UnspecifiedMatching -orphanet.ordo:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching -orphanet.ordo:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 semapv:UnspecifiedMatching -orphanet.ordo:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching -orphanet.ordo:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching -orphanet.ordo:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MeSH:D020163 semapv:UnspecifiedMatching -orphanet.ordo:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MedDRA:10052450 semapv:UnspecifiedMatching -orphanet.ordo:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref OMIM:311250 semapv:UnspecifiedMatching -orphanet.ordo:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref UMLS:C0268542 semapv:UnspecifiedMatching -orphanet.ordo:665 Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C2931404 semapv:UnspecifiedMatching -orphanet.ordo:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching -orphanet.ordo:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref UMLS:C1739395 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref MeSH:D010013 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref MedDRA:10031243 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613848 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:614856 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:615066 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:616229 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:616507 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:619131 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:619795 semapv:UnspecifiedMatching -orphanet.ordo:666 Osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0029434 semapv:UnspecifiedMatching -orphanet.ordo:66624 PANDAS oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching -orphanet.ordo:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref OMIM:605627 semapv:UnspecifiedMatching -orphanet.ordo:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref UMLS:C1854108 semapv:UnspecifiedMatching -orphanet.ordo:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref ICD10:M12.2 semapv:UnspecifiedMatching -orphanet.ordo:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref MESH:D013586 semapv:UnspecifiedMatching -orphanet.ordo:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref MeSH:D013586 semapv:UnspecifiedMatching -orphanet.ordo:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS:C0039106 semapv:UnspecifiedMatching -orphanet.ordo:66628 Obesity due to congenital leptin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:66628 Obesity due to congenital leptin deficiency oboInOwl:hasDbXref OMIM:614962 semapv:UnspecifiedMatching -orphanet.ordo:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref MESH:C537279 semapv:UnspecifiedMatching -orphanet.ordo:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref MeSH:C537279 semapv:UnspecifiedMatching -orphanet.ordo:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref OMIM:609460 semapv:UnspecifiedMatching -orphanet.ordo:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref UMLS:C1836123 semapv:UnspecifiedMatching -orphanet.ordo:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref OMIM:118980 semapv:UnspecifiedMatching -orphanet.ordo:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref UMLS:C0265565 semapv:UnspecifiedMatching -orphanet.ordo:66631 CEDNIK syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:66631 CEDNIK syndrome oboInOwl:hasDbXref OMIM:609528 semapv:UnspecifiedMatching -orphanet.ordo:66631 CEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836033 semapv:UnspecifiedMatching -orphanet.ordo:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref OMIM:610198 semapv:UnspecifiedMatching -orphanet.ordo:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref UMLS:C1857776 semapv:UnspecifiedMatching -orphanet.ordo:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref OMIM:608022 semapv:UnspecifiedMatching -orphanet.ordo:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref UMLS:C1842691 semapv:UnspecifiedMatching -orphanet.ordo:66646 Cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching -orphanet.ordo:66646 Cutaneous mastocytosis oboInOwl:hasDbXref MeSH:D034701 semapv:UnspecifiedMatching -orphanet.ordo:66646 Cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C1136033 semapv:UnspecifiedMatching -orphanet.ordo:66661 Mast cell sarcoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching -orphanet.ordo:66661 Mast cell sarcoma oboInOwl:hasDbXref MESH:D012515 semapv:UnspecifiedMatching -orphanet.ordo:66661 Mast cell sarcoma oboInOwl:hasDbXref MeSH:D012515 semapv:UnspecifiedMatching -orphanet.ordo:66661 Mast cell sarcoma oboInOwl:hasDbXref UMLS:C0036221 semapv:UnspecifiedMatching -orphanet.ordo:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching -orphanet.ordo:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0272202 semapv:UnspecifiedMatching -orphanet.ordo:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:259700 semapv:UnspecifiedMatching -orphanet.ordo:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:259710 semapv:UnspecifiedMatching -orphanet.ordo:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:611490 semapv:UnspecifiedMatching -orphanet.ordo:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:615085 semapv:UnspecifiedMatching -orphanet.ordo:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref UMLS:C1318518 semapv:UnspecifiedMatching -orphanet.ordo:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching -orphanet.ordo:668 Osteosarcoma oboInOwl:hasDbXref MESH:D012516 semapv:UnspecifiedMatching -orphanet.ordo:668 Osteosarcoma oboInOwl:hasDbXref MeSH:D012516 semapv:UnspecifiedMatching -orphanet.ordo:668 Osteosarcoma oboInOwl:hasDbXref MedDRA:10031291 semapv:UnspecifiedMatching -orphanet.ordo:668 Osteosarcoma oboInOwl:hasDbXref OMIM:259500 semapv:UnspecifiedMatching -orphanet.ordo:668 Osteosarcoma oboInOwl:hasDbXref UMLS:C0029463 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.0 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.1 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.2 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.3 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.4 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.5 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.6 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.7 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.8 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.9 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref MESH:C531613 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref MeSH:C531613 semapv:UnspecifiedMatching -orphanet.ordo:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref UMLS:C2930799 semapv:UnspecifiedMatching -orphanet.ordo:670 PIBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching -orphanet.ordo:670 PIBIDS syndrome oboInOwl:hasDbXref UMLS:C1866504 semapv:UnspecifiedMatching -orphanet.ordo:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref MESH:C537128 semapv:UnspecifiedMatching -orphanet.ordo:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref MeSH:C537128 semapv:UnspecifiedMatching -orphanet.ordo:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref OMIM:165300 semapv:UnspecifiedMatching -orphanet.ordo:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref UMLS:C1833809 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.1 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MESH:D015451 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MeSH:D015451 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MedDRA:10008958 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:109543 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:151400 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:609630 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612557 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612558 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612559 semapv:UnspecifiedMatching -orphanet.ordo:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023434 semapv:UnspecifiedMatching -orphanet.ordo:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching -orphanet.ordo:67041 Hyaluronidase deficiency oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:67041 Hyaluronidase deficiency oboInOwl:hasDbXref OMIM:601492 semapv:UnspecifiedMatching -orphanet.ordo:67041 Hyaluronidase deficiency oboInOwl:hasDbXref UMLS:C1291490 semapv:UnspecifiedMatching -orphanet.ordo:67042 Late-onset retinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:67042 Late-onset retinal degeneration oboInOwl:hasDbXref OMIM:605670 semapv:UnspecifiedMatching -orphanet.ordo:67042 Late-onset retinal degeneration oboInOwl:hasDbXref UMLS:C1854065 semapv:UnspecifiedMatching -orphanet.ordo:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:B60.1+ semapv:UnspecifiedMatching -orphanet.ordo:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:H19.2* semapv:UnspecifiedMatching -orphanet.ordo:67043 Amoebic keratitis oboInOwl:hasDbXref MESH:D015823 semapv:UnspecifiedMatching -orphanet.ordo:67043 Amoebic keratitis oboInOwl:hasDbXref MeSH:D015823 semapv:UnspecifiedMatching -orphanet.ordo:67043 Amoebic keratitis oboInOwl:hasDbXref MedDRA:10069408 semapv:UnspecifiedMatching -orphanet.ordo:67043 Amoebic keratitis oboInOwl:hasDbXref UMLS:C0000880 semapv:UnspecifiedMatching -orphanet.ordo:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatching -orphanet.ordo:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C1845837 semapv:UnspecifiedMatching -orphanet.ordo:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching -orphanet.ordo:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C1848068 semapv:UnspecifiedMatching -orphanet.ordo:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref OMIM:250950 semapv:UnspecifiedMatching -orphanet.ordo:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref UMLS:C0342727 semapv:UnspecifiedMatching -orphanet.ordo:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref MESH:C535311 semapv:UnspecifiedMatching -orphanet.ordo:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref MeSH:C535311 semapv:UnspecifiedMatching -orphanet.ordo:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref OMIM:258501 semapv:UnspecifiedMatching -orphanet.ordo:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref UMLS:C0574084 semapv:UnspecifiedMatching -orphanet.ordo:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref OMIM:250951 semapv:UnspecifiedMatching -orphanet.ordo:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref UMLS:C1855126 semapv:UnspecifiedMatching -orphanet.ordo:671 Primary cutis verticis gyrata oboInOwl:hasDbXref UMLS:C0263417 semapv:UnspecifiedMatching -orphanet.ordo:672 Pallister-Hall syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:672 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:UnspecifiedMatching -orphanet.ordo:672 Pallister-Hall syndrome oboInOwl:hasDbXref MeSH:D054975 semapv:UnspecifiedMatching -orphanet.ordo:672 Pallister-Hall syndrome oboInOwl:hasDbXref OMIM:146510 semapv:UnspecifiedMatching -orphanet.ordo:672 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS:C0265220 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B50.8 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B50.9 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B51.0 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B51.8 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B51.9 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B52.0 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B52.8 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B52.9 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B53.0 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B53.1 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B53.8 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref ICD10:B54 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref MESH:D008288 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref MeSH:D008288 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref MedDRA:10025487 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref OMIM:611162 semapv:UnspecifiedMatching -orphanet.ordo:673 Malaria oboInOwl:hasDbXref UMLS:C0024530 semapv:UnspecifiedMatching -orphanet.ordo:674 Accessory pancreas oboInOwl:hasDbXref ICD10:Q45.3 semapv:UnspecifiedMatching -orphanet.ordo:674 Accessory pancreas oboInOwl:hasDbXref MESH:C536003 semapv:UnspecifiedMatching -orphanet.ordo:674 Accessory pancreas oboInOwl:hasDbXref MeSH:C536003 semapv:UnspecifiedMatching -orphanet.ordo:674 Accessory pancreas oboInOwl:hasDbXref UMLS:C0266268 semapv:UnspecifiedMatching -orphanet.ordo:675 Annular pancreas oboInOwl:hasDbXref ICD10:Q45.1 semapv:UnspecifiedMatching -orphanet.ordo:675 Annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:UnspecifiedMatching -orphanet.ordo:675 Annular pancreas oboInOwl:hasDbXref MeSH:C536376 semapv:UnspecifiedMatching -orphanet.ordo:675 Annular pancreas oboInOwl:hasDbXref MedDRA:10071757 semapv:UnspecifiedMatching -orphanet.ordo:675 Annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching -orphanet.ordo:675 Annular pancreas oboInOwl:hasDbXref UMLS:C0149955 semapv:UnspecifiedMatching -orphanet.ordo:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching -orphanet.ordo:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching -orphanet.ordo:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref UMLS:C0238339 semapv:UnspecifiedMatching -orphanet.ordo:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching -orphanet.ordo:677 Pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching -orphanet.ordo:677 Pancreatoblastoma oboInOwl:hasDbXref MeSH:C537162 semapv:UnspecifiedMatching -orphanet.ordo:677 Pancreatoblastoma oboInOwl:hasDbXref UMLS:C0334489 semapv:UnspecifiedMatching -orphanet.ordo:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MESH:D010214 semapv:UnspecifiedMatching -orphanet.ordo:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MeSH:D010214 semapv:UnspecifiedMatching -orphanet.ordo:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref OMIM:245000 semapv:UnspecifiedMatching -orphanet.ordo:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref UMLS:C0030360 semapv:UnspecifiedMatching -orphanet.ordo:679 Malignant atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching -orphanet.ordo:679 Malignant atrophic papulosis oboInOwl:hasDbXref MESH:D054853 semapv:UnspecifiedMatching -orphanet.ordo:679 Malignant atrophic papulosis oboInOwl:hasDbXref MeSH:D054853 semapv:UnspecifiedMatching -orphanet.ordo:679 Malignant atrophic papulosis oboInOwl:hasDbXref MedDRA:10064281 semapv:UnspecifiedMatching -orphanet.ordo:679 Malignant atrophic papulosis oboInOwl:hasDbXref OMIM:602248 semapv:UnspecifiedMatching -orphanet.ordo:679 Malignant atrophic papulosis oboInOwl:hasDbXref UMLS:C0221011 semapv:UnspecifiedMatching -orphanet.ordo:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.1 semapv:UnspecifiedMatching -orphanet.ordo:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.2 semapv:UnspecifiedMatching -orphanet.ordo:680 Normokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170600 semapv:UnspecifiedMatching -orphanet.ordo:680 Normokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0268445 semapv:UnspecifiedMatching -orphanet.ordo:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref MESH:D020514 semapv:UnspecifiedMatching -orphanet.ordo:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref MeSH:D020514 semapv:UnspecifiedMatching -orphanet.ordo:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching -orphanet.ordo:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching -orphanet.ordo:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238358 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:C535409 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MeSH:C535409 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MeSH:D020513 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 semapv:UnspecifiedMatching -orphanet.ordo:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref MESH:D013494 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref MeSH:D013494 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref MedDRA:10036813 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:601104 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching -orphanet.ordo:683 Progressive supranuclear palsy oboInOwl:hasDbXref UMLS:C0038868 semapv:UnspecifiedMatching -orphanet.ordo:68335 Rare chromosomal anomaly oboInOwl:hasDbXref MESH:D002869 semapv:UnspecifiedMatching -orphanet.ordo:68335 Rare chromosomal anomaly oboInOwl:hasDbXref MeSH:D002869 semapv:UnspecifiedMatching -orphanet.ordo:68346 Rare genetic skin disease oboInOwl:hasDbXref UMLS:C0037277 semapv:UnspecifiedMatching -orphanet.ordo:68354 Rare sleep disorder oboInOwl:hasDbXref MESH:D012893 semapv:UnspecifiedMatching -orphanet.ordo:68354 Rare sleep disorder oboInOwl:hasDbXref MeSH:D012893 semapv:UnspecifiedMatching -orphanet.ordo:68354 Rare sleep disorder oboInOwl:hasDbXref MedDRA:10040984 semapv:UnspecifiedMatching -orphanet.ordo:68354 Rare sleep disorder oboInOwl:hasDbXref UMLS:C0851578 semapv:UnspecifiedMatching -orphanet.ordo:68356 Leukodystrophy oboInOwl:hasDbXref MedDRA:10024381 semapv:UnspecifiedMatching -orphanet.ordo:68356 Leukodystrophy oboInOwl:hasDbXref UMLS:C0023520 semapv:UnspecifiedMatching -orphanet.ordo:68362 Rare vascular disease oboInOwl:hasDbXref UMLS:C0042373 semapv:UnspecifiedMatching -orphanet.ordo:68363 Rare dystonia oboInOwl:hasDbXref UMLS:C0393593 semapv:UnspecifiedMatching -orphanet.ordo:68364 Hemoglobinopathy oboInOwl:hasDbXref MESH:D006453 semapv:UnspecifiedMatching -orphanet.ordo:68364 Hemoglobinopathy oboInOwl:hasDbXref MeSH:D006453 semapv:UnspecifiedMatching -orphanet.ordo:68364 Hemoglobinopathy oboInOwl:hasDbXref MedDRA:10060892 semapv:UnspecifiedMatching -orphanet.ordo:68364 Hemoglobinopathy oboInOwl:hasDbXref UMLS:C0019045 semapv:UnspecifiedMatching -orphanet.ordo:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref MESH:D008659 semapv:UnspecifiedMatching -orphanet.ordo:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref MESH:D008661 semapv:UnspecifiedMatching -orphanet.ordo:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref MeSH:D008659 semapv:UnspecifiedMatching -orphanet.ordo:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref MeSH:D008661 semapv:UnspecifiedMatching -orphanet.ordo:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref MedDRA:10058097 semapv:UnspecifiedMatching -orphanet.ordo:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref MedDRA:10062018 semapv:UnspecifiedMatching -orphanet.ordo:68373 Peroxisomal disease oboInOwl:hasDbXref MESH:D018901 semapv:UnspecifiedMatching -orphanet.ordo:68373 Peroxisomal disease oboInOwl:hasDbXref MeSH:D018901 semapv:UnspecifiedMatching -orphanet.ordo:68373 Peroxisomal disease oboInOwl:hasDbXref UMLS:C0282528 semapv:UnspecifiedMatching -orphanet.ordo:68378 Congenital limb malformation oboInOwl:hasDbXref UMLS:C0206762 semapv:UnspecifiedMatching -orphanet.ordo:68380 Mitochondrial disease oboInOwl:hasDbXref MESH:D028361 semapv:UnspecifiedMatching -orphanet.ordo:68380 Mitochondrial disease oboInOwl:hasDbXref MeSH:D028361 semapv:UnspecifiedMatching -orphanet.ordo:68380 Mitochondrial disease oboInOwl:hasDbXref UMLS:C0751651 semapv:UnspecifiedMatching -orphanet.ordo:68381 Neuromuscular disease oboInOwl:hasDbXref MESH:D009468 semapv:UnspecifiedMatching -orphanet.ordo:68381 Neuromuscular disease oboInOwl:hasDbXref MeSH:D009468 semapv:UnspecifiedMatching -orphanet.ordo:68381 Neuromuscular disease oboInOwl:hasDbXref MedDRA:10029323 semapv:UnspecifiedMatching -orphanet.ordo:68381 Neuromuscular disease oboInOwl:hasDbXref UMLS:C0027868 semapv:UnspecifiedMatching -orphanet.ordo:68383 Rare constitutional aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MESH:C538616 semapv:UnspecifiedMatching -orphanet.ordo:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MeSH:C538616 semapv:UnspecifiedMatching -orphanet.ordo:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 semapv:UnspecifiedMatching -orphanet.ordo:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C0221055 semapv:UnspecifiedMatching -orphanet.ordo:68402 Rare parkinsonian disorder oboInOwl:hasDbXref UMLS:C0242422 semapv:UnspecifiedMatching -orphanet.ordo:68411 Rare bone tumor oboInOwl:hasDbXref UMLS:C0005967 semapv:UnspecifiedMatching -orphanet.ordo:685 Hereditary spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:685 Hereditary spastic paraplegia oboInOwl:hasDbXref MedDRA:10019903 semapv:UnspecifiedMatching -orphanet.ordo:685 Hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0037773 semapv:UnspecifiedMatching -orphanet.ordo:69 Amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:69 Amyloidosis oboInOwl:hasDbXref MESH:D000686 semapv:UnspecifiedMatching -orphanet.ordo:69 Amyloidosis oboInOwl:hasDbXref MeSH:D000686 semapv:UnspecifiedMatching -orphanet.ordo:69 Amyloidosis oboInOwl:hasDbXref MedDRA:10002022 semapv:UnspecifiedMatching -orphanet.ordo:69 Amyloidosis oboInOwl:hasDbXref UMLS:C0002726 semapv:UnspecifiedMatching -orphanet.ordo:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching -orphanet.ordo:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref OMIM:615861 semapv:UnspecifiedMatching -orphanet.ordo:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref ICD10:P96.0 semapv:UnspecifiedMatching -orphanet.ordo:69076 Familial renal glucosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:69076 Familial renal glucosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching -orphanet.ordo:69076 Familial renal glucosuria oboInOwl:hasDbXref UMLS:C3245525 semapv:UnspecifiedMatching -orphanet.ordo:69077 Rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:69077 Rhabdoid tumor oboInOwl:hasDbXref MESH:D018335 semapv:UnspecifiedMatching -orphanet.ordo:69077 Rhabdoid tumor oboInOwl:hasDbXref MeSH:D018335 semapv:UnspecifiedMatching -orphanet.ordo:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching -orphanet.ordo:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching -orphanet.ordo:69077 Rhabdoid tumor oboInOwl:hasDbXref UMLS:C0206743 semapv:UnspecifiedMatching -orphanet.ordo:69078 Liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:69078 Liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching -orphanet.ordo:69078 Liposarcoma oboInOwl:hasDbXref MeSH:D008080 semapv:UnspecifiedMatching -orphanet.ordo:69078 Liposarcoma oboInOwl:hasDbXref MedDRA:10024627 semapv:UnspecifiedMatching -orphanet.ordo:69078 Liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching -orphanet.ordo:69078 Liposarcoma oboInOwl:hasDbXref UMLS:C0023827 semapv:UnspecifiedMatching -orphanet.ordo:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref OMIM:601957 semapv:UnspecifiedMatching -orphanet.ordo:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref UMLS:C1865998 semapv:UnspecifiedMatching -orphanet.ordo:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref OMIM:601345 semapv:UnspecifiedMatching -orphanet.ordo:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref UMLS:C1832444 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:602032 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614927 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614928 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614929 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614931 semapv:UnspecifiedMatching -orphanet.ordo:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref UMLS:C1865951 semapv:UnspecifiedMatching -orphanet.ordo:69085 Limb-mammary syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:69085 Limb-mammary syndrome oboInOwl:hasDbXref MESH:C535903 semapv:UnspecifiedMatching -orphanet.ordo:69085 Limb-mammary syndrome oboInOwl:hasDbXref MeSH:C535903 semapv:UnspecifiedMatching -orphanet.ordo:69085 Limb-mammary syndrome oboInOwl:hasDbXref OMIM:603543 semapv:UnspecifiedMatching -orphanet.ordo:69085 Limb-mammary syndrome oboInOwl:hasDbXref UMLS:C1863753 semapv:UnspecifiedMatching -orphanet.ordo:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM:161000 semapv:UnspecifiedMatching -orphanet.ordo:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS:C0343111 semapv:UnspecifiedMatching -orphanet.ordo:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching -orphanet.ordo:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching -orphanet.ordo:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C1845919 semapv:UnspecifiedMatching -orphanet.ordo:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching -orphanet.ordo:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref OMIM:106750 semapv:UnspecifiedMatching -orphanet.ordo:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref UMLS:C1862844 semapv:UnspecifiedMatching -orphanet.ordo:69126 PAPA syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:69126 PAPA syndrome oboInOwl:hasDbXref MESH:C536253 semapv:UnspecifiedMatching -orphanet.ordo:69126 PAPA syndrome oboInOwl:hasDbXref MeSH:C536253 semapv:UnspecifiedMatching -orphanet.ordo:69126 PAPA syndrome oboInOwl:hasDbXref OMIM:604416 semapv:UnspecifiedMatching -orphanet.ordo:69126 PAPA syndrome oboInOwl:hasDbXref UMLS:C1858361 semapv:UnspecifiedMatching -orphanet.ordo:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency oboInOwl:hasDbXref ICD10:D80.2 semapv:UnspecifiedMatching -orphanet.ordo:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching -orphanet.ordo:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref MedDRA:10068936 semapv:UnspecifiedMatching -orphanet.ordo:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref OMIM:600803 semapv:UnspecifiedMatching -orphanet.ordo:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref UMLS:C2609268 semapv:UnspecifiedMatching -orphanet.ordo:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching -orphanet.ordo:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 semapv:UnspecifiedMatching -orphanet.ordo:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MeSH:C535932 semapv:UnspecifiedMatching -orphanet.ordo:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:147480 semapv:UnspecifiedMatching -orphanet.ordo:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:614972 semapv:UnspecifiedMatching -orphanet.ordo:69723 Tyrosinemia type 3 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching -orphanet.ordo:69723 Tyrosinemia type 3 oboInOwl:hasDbXref MedDRA:10069461 semapv:UnspecifiedMatching -orphanet.ordo:69723 Tyrosinemia type 3 oboInOwl:hasDbXref OMIM:276710 semapv:UnspecifiedMatching -orphanet.ordo:69723 Tyrosinemia type 3 oboInOwl:hasDbXref UMLS:C0268623 semapv:UnspecifiedMatching -orphanet.ordo:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:137940 semapv:UnspecifiedMatching -orphanet.ordo:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:607823 semapv:UnspecifiedMatching -orphanet.ordo:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching -orphanet.ordo:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref UMLS:C1832216 semapv:UnspecifiedMatching -orphanet.ordo:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching -orphanet.ordo:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref MESH:C535397 semapv:UnspecifiedMatching -orphanet.ordo:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref MeSH:C535397 semapv:UnspecifiedMatching -orphanet.ordo:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching -orphanet.ordo:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1832215 semapv:UnspecifiedMatching -orphanet.ordo:69744 Circumscribed palmoplantar hypokeratosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:69745 Warty dyskeratoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching -orphanet.ordo:69745 Warty dyskeratoma oboInOwl:hasDbXref MedDRA:10068856 semapv:UnspecifiedMatching -orphanet.ordo:69745 Warty dyskeratoma oboInOwl:hasDbXref UMLS:C0334063 semapv:UnspecifiedMatching -orphanet.ordo:699 Pearson syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:699 Pearson syndrome oboInOwl:hasDbXref MedDRA:10062941 semapv:UnspecifiedMatching -orphanet.ordo:699 Pearson syndrome oboInOwl:hasDbXref OMIM:557000 semapv:UnspecifiedMatching -orphanet.ordo:699 Pearson syndrome oboInOwl:hasDbXref UMLS:C0342784 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref MESH:C535313 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref MeSH:C535313 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref OMIM:220210 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref OMIM:300963 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref OMIM:619135 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref OMIM:619435 semapv:UnspecifiedMatching -orphanet.ordo:7 3C syndrome oboInOwl:hasDbXref UMLS:C0796137 semapv:UnspecifiedMatching -orphanet.ordo:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching -orphanet.ordo:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching -orphanet.ordo:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching -orphanet.ordo:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching -orphanet.ordo:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching -orphanet.ordo:700 Alopecia totalis oboInOwl:hasDbXref ICD10:L63.0 semapv:UnspecifiedMatching -orphanet.ordo:700 Alopecia totalis oboInOwl:hasDbXref MedDRA:10001766 semapv:UnspecifiedMatching -orphanet.ordo:700 Alopecia totalis oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedMatching -orphanet.ordo:700 Alopecia totalis oboInOwl:hasDbXref OMIM:300042 semapv:UnspecifiedMatching -orphanet.ordo:700 Alopecia totalis oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching -orphanet.ordo:700 Alopecia totalis oboInOwl:hasDbXref UMLS:C0263504 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref ICD10:L63.1 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref MESH:C537055 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref MeSH:C537055 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref MedDRA:10001767 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref OMIM:203655 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching -orphanet.ordo:701 Alopecia universalis oboInOwl:hasDbXref UMLS:C0263505 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MeSH:D020371 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MedDRA:10067610 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:213900 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching -orphanet.ordo:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS:C0205711 semapv:UnspecifiedMatching -orphanet.ordo:703 Bullous pemphigoid oboInOwl:hasDbXref ICD10:L12.0 semapv:UnspecifiedMatching -orphanet.ordo:703 Bullous pemphigoid oboInOwl:hasDbXref MESH:D010391 semapv:UnspecifiedMatching -orphanet.ordo:703 Bullous pemphigoid oboInOwl:hasDbXref MeSH:D010391 semapv:UnspecifiedMatching -orphanet.ordo:703 Bullous pemphigoid oboInOwl:hasDbXref UMLS:C0030805 semapv:UnspecifiedMatching -orphanet.ordo:704 Pemphigus vulgaris oboInOwl:hasDbXref ICD10:L10.0 semapv:UnspecifiedMatching -orphanet.ordo:704 Pemphigus vulgaris oboInOwl:hasDbXref MedDRA:10052802 semapv:UnspecifiedMatching -orphanet.ordo:704 Pemphigus vulgaris oboInOwl:hasDbXref OMIM:169610 semapv:UnspecifiedMatching -orphanet.ordo:704 Pemphigus vulgaris oboInOwl:hasDbXref UMLS:C0030809 semapv:UnspecifiedMatching -orphanet.ordo:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:220111 semapv:UnspecifiedMatching -orphanet.ordo:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:619065 semapv:UnspecifiedMatching -orphanet.ordo:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref UMLS:C1857355 semapv:UnspecifiedMatching -orphanet.ordo:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching -orphanet.ordo:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching -orphanet.ordo:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618252 semapv:UnspecifiedMatching -orphanet.ordo:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching -orphanet.ordo:70475 Radiation proctitis oboInOwl:hasDbXref MedDRA:10037766 semapv:UnspecifiedMatching -orphanet.ordo:70475 Radiation proctitis oboInOwl:hasDbXref UMLS:C0400827 semapv:UnspecifiedMatching -orphanet.ordo:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching -orphanet.ordo:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0022577 semapv:UnspecifiedMatching -orphanet.ordo:70482 Carcinoma of esophagus oboInOwl:hasDbXref MedDRA:10030155 semapv:UnspecifiedMatching -orphanet.ordo:70482 Carcinoma of esophagus oboInOwl:hasDbXref UMLS:C0152018 semapv:UnspecifiedMatching -orphanet.ordo:705 Pendred syndrome oboInOwl:hasDbXref ICD10:E07.1 semapv:UnspecifiedMatching -orphanet.ordo:705 Pendred syndrome oboInOwl:hasDbXref MESH:C536648 semapv:UnspecifiedMatching -orphanet.ordo:705 Pendred syndrome oboInOwl:hasDbXref MeSH:C536648 semapv:UnspecifiedMatching -orphanet.ordo:705 Pendred syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching -orphanet.ordo:705 Pendred syndrome oboInOwl:hasDbXref UMLS:C0271829 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.9 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref MeSH:D001650 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref MeSH:D018281 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref MedDRA:10004593 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref MedDRA:10008593 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref OMIM:615619 semapv:UnspecifiedMatching -orphanet.ordo:70567 Cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0206698 semapv:UnspecifiedMatching -orphanet.ordo:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -orphanet.ordo:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref MedDRA:10051358 semapv:UnspecifiedMatching -orphanet.ordo:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref UMLS:C0432487 semapv:UnspecifiedMatching -orphanet.ordo:70573 Small cell lung cancer oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching -orphanet.ordo:70573 Small cell lung cancer oboInOwl:hasDbXref OMIM:182280 semapv:UnspecifiedMatching -orphanet.ordo:70573 Small cell lung cancer oboInOwl:hasDbXref UMLS:C0149925 semapv:UnspecifiedMatching -orphanet.ordo:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:J80 semapv:UnspecifiedMatching -orphanet.ordo:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:P22.0 semapv:UnspecifiedMatching -orphanet.ordo:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref OMIM:267450 semapv:UnspecifiedMatching -orphanet.ordo:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0035220 semapv:UnspecifiedMatching -orphanet.ordo:70588 Meconium aspiration syndrome oboInOwl:hasDbXref ICD10:P24.0 semapv:UnspecifiedMatching -orphanet.ordo:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching -orphanet.ordo:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MeSH:D008471 semapv:UnspecifiedMatching -orphanet.ordo:70588 Meconium aspiration syndrome oboInOwl:hasDbXref UMLS:C0025048 semapv:UnspecifiedMatching -orphanet.ordo:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10:P27.1 semapv:UnspecifiedMatching -orphanet.ordo:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MESH:D001997 semapv:UnspecifiedMatching -orphanet.ordo:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MeSH:D001997 semapv:UnspecifiedMatching -orphanet.ordo:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MedDRA:10006475 semapv:UnspecifiedMatching -orphanet.ordo:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref UMLS:C0006287 semapv:UnspecifiedMatching -orphanet.ordo:70590 Infantile apnea oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching -orphanet.ordo:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref ICD10:I26.0 semapv:UnspecifiedMatching -orphanet.ordo:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref MedDRA:10068739 semapv:UnspecifiedMatching -orphanet.ordo:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref OMIM:612862 semapv:UnspecifiedMatching -orphanet.ordo:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref UMLS:C2363973 semapv:UnspecifiedMatching -orphanet.ordo:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref OMIM:607676 semapv:UnspecifiedMatching -orphanet.ordo:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref UMLS:C1843256 semapv:UnspecifiedMatching -orphanet.ordo:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching -orphanet.ordo:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref OMIM:612716 semapv:UnspecifiedMatching -orphanet.ordo:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS:C0268468 semapv:UnspecifiedMatching -orphanet.ordo:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref MESH:C537583 semapv:UnspecifiedMatching -orphanet.ordo:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref MeSH:C537583 semapv:UnspecifiedMatching -orphanet.ordo:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching -orphanet.ordo:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref UMLS:C1843851 semapv:UnspecifiedMatching -orphanet.ordo:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching -orphanet.ordo:706 NON RARE IN EUROPE: Patent arterial duct oboInOwl:hasDbXref ICD10:Q25.0 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.0 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.1 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.2 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.3 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.7 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.8 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref ICD10:A20.9 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref MESH:D015009 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref MeSH:D010930 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref MeSH:D015009 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref MedDRA:10035148 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref MedDRA:10061416 semapv:UnspecifiedMatching -orphanet.ordo:707 Plague oboInOwl:hasDbXref UMLS:C0032064 semapv:UnspecifiedMatching -orphanet.ordo:708 Peters anomaly oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching -orphanet.ordo:708 Peters anomaly oboInOwl:hasDbXref MESH:C537884 semapv:UnspecifiedMatching -orphanet.ordo:708 Peters anomaly oboInOwl:hasDbXref MeSH:C537884 semapv:UnspecifiedMatching -orphanet.ordo:708 Peters anomaly oboInOwl:hasDbXref MedDRA:10059202 semapv:UnspecifiedMatching -orphanet.ordo:708 Peters anomaly oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching -orphanet.ordo:708 Peters anomaly oboInOwl:hasDbXref OMIM:612968 semapv:UnspecifiedMatching -orphanet.ordo:709 Peters plus syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:709 Peters plus syndrome oboInOwl:hasDbXref OMIM:261540 semapv:UnspecifiedMatching -orphanet.ordo:709 Peters plus syndrome oboInOwl:hasDbXref UMLS:C0796012 semapv:UnspecifiedMatching -orphanet.ordo:71 Chylomicron retention disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:71 Chylomicron retention disease oboInOwl:hasDbXref MESH:C535460 semapv:UnspecifiedMatching -orphanet.ordo:71 Chylomicron retention disease oboInOwl:hasDbXref MeSH:C535460 semapv:UnspecifiedMatching -orphanet.ordo:71 Chylomicron retention disease oboInOwl:hasDbXref OMIM:246700 semapv:UnspecifiedMatching -orphanet.ordo:71 Chylomicron retention disease oboInOwl:hasDbXref UMLS:C0795956 semapv:UnspecifiedMatching -orphanet.ordo:710 Pfeiffer syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:710 Pfeiffer syndrome oboInOwl:hasDbXref MESH:C538582 semapv:UnspecifiedMatching -orphanet.ordo:710 Pfeiffer syndrome oboInOwl:hasDbXref MeSH:C538582 semapv:UnspecifiedMatching -orphanet.ordo:710 Pfeiffer syndrome oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching -orphanet.ordo:710 Pfeiffer syndrome oboInOwl:hasDbXref UMLS:C0220658 semapv:UnspecifiedMatching -orphanet.ordo:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching -orphanet.ordo:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref UMLS:C2752015 semapv:UnspecifiedMatching -orphanet.ordo:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching -orphanet.ordo:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching -orphanet.ordo:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref MedDRA:10050245 semapv:UnspecifiedMatching -orphanet.ordo:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C0242584 semapv:UnspecifiedMatching -orphanet.ordo:71209 Rare soft tissue tumor oboInOwl:hasDbXref UMLS:C0037579 semapv:UnspecifiedMatching -orphanet.ordo:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching -orphanet.ordo:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MESH:D009471 semapv:UnspecifiedMatching -orphanet.ordo:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MeSH:D009471 semapv:UnspecifiedMatching -orphanet.ordo:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MedDRA:10029322 semapv:UnspecifiedMatching -orphanet.ordo:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref UMLS:C0027873 semapv:UnspecifiedMatching -orphanet.ordo:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231530 semapv:UnspecifiedMatching -orphanet.ordo:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609975 semapv:UnspecifiedMatching -orphanet.ordo:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1291230 semapv:UnspecifiedMatching -orphanet.ordo:71213 Retinal capillary malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -orphanet.ordo:71213 Retinal capillary malformation oboInOwl:hasDbXref UMLS:C0730304 semapv:UnspecifiedMatching -orphanet.ordo:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching -orphanet.ordo:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref UMLS:C1857344 semapv:UnspecifiedMatching -orphanet.ordo:71272 Sandifer syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:71272 Sandifer syndrome oboInOwl:hasDbXref MESH:C537234 semapv:UnspecifiedMatching -orphanet.ordo:71272 Sandifer syndrome oboInOwl:hasDbXref MeSH:C537234 semapv:UnspecifiedMatching -orphanet.ordo:71272 Sandifer syndrome oboInOwl:hasDbXref MedDRA:10066142 semapv:UnspecifiedMatching -orphanet.ordo:71272 Sandifer syndrome oboInOwl:hasDbXref UMLS:C0338465 semapv:UnspecifiedMatching -orphanet.ordo:71273 Renal nutcracker syndrome oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching -orphanet.ordo:71273 Renal nutcracker syndrome oboInOwl:hasDbXref MESH:D059228 semapv:UnspecifiedMatching -orphanet.ordo:71273 Renal nutcracker syndrome oboInOwl:hasDbXref MeSH:D059228 semapv:UnspecifiedMatching -orphanet.ordo:71273 Renal nutcracker syndrome oboInOwl:hasDbXref UMLS:C3178770 semapv:UnspecifiedMatching -orphanet.ordo:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref ICD10:D20.1 semapv:UnspecifiedMatching -orphanet.ordo:71275 Rh deficiency syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:268150 semapv:UnspecifiedMatching -orphanet.ordo:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:617970 semapv:UnspecifiedMatching -orphanet.ordo:71275 Rh deficiency syndrome oboInOwl:hasDbXref UMLS:C0272052 semapv:UnspecifiedMatching -orphanet.ordo:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching -orphanet.ordo:71276 Silent sinus syndrome oboInOwl:hasDbXref UMLS:C3698095 semapv:UnspecifiedMatching -orphanet.ordo:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref OMIM:606777 semapv:UnspecifiedMatching -orphanet.ordo:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref UMLS:C1847501 semapv:UnspecifiedMatching -orphanet.ordo:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref OMIM:610015 semapv:UnspecifiedMatching -orphanet.ordo:71279 CANOMAD syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching -orphanet.ordo:71279 CANOMAD syndrome oboInOwl:hasDbXref MESH:C537980 semapv:UnspecifiedMatching -orphanet.ordo:71279 CANOMAD syndrome oboInOwl:hasDbXref MeSH:C537980 semapv:UnspecifiedMatching -orphanet.ordo:71279 CANOMAD syndrome oboInOwl:hasDbXref UMLS:C2931684 semapv:UnspecifiedMatching -orphanet.ordo:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:605432 semapv:UnspecifiedMatching -orphanet.ordo:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:616738 semapv:UnspecifiedMatching -orphanet.ordo:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C1854273 semapv:UnspecifiedMatching -orphanet.ordo:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:601399 semapv:UnspecifiedMatching -orphanet.ordo:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:616216 semapv:UnspecifiedMatching -orphanet.ordo:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref UMLS:C1832388 semapv:UnspecifiedMatching -orphanet.ordo:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching -orphanet.ordo:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching -orphanet.ordo:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching -orphanet.ordo:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching -orphanet.ordo:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching -orphanet.ordo:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching -orphanet.ordo:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:300559 semapv:UnspecifiedMatching -orphanet.ordo:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C1845151 semapv:UnspecifiedMatching -orphanet.ordo:71505 Cancer-associated retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching -orphanet.ordo:71505 Cancer-associated retinopathy oboInOwl:hasDbXref UMLS:C0730307 semapv:UnspecifiedMatching -orphanet.ordo:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:128235 semapv:UnspecifiedMatching -orphanet.ordo:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1868681 semapv:UnspecifiedMatching -orphanet.ordo:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref ICD10:G24.3 semapv:UnspecifiedMatching -orphanet.ordo:71519 Psychogenic movement disorders oboInOwl:hasDbXref ICD10:F44.4 semapv:UnspecifiedMatching -orphanet.ordo:71519 Psychogenic movement disorders oboInOwl:hasDbXref MedDRA:10072376 semapv:UnspecifiedMatching -orphanet.ordo:71519 Psychogenic movement disorders oboInOwl:hasDbXref UMLS:C3267131 semapv:UnspecifiedMatching -orphanet.ordo:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref OMIM:601665 semapv:UnspecifiedMatching -orphanet.ordo:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref OMIM:609734 semapv:UnspecifiedMatching -orphanet.ordo:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref UMLS:C1857854 semapv:UnspecifiedMatching -orphanet.ordo:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref OMIM:600955 semapv:UnspecifiedMatching -orphanet.ordo:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref OMIM:601665 semapv:UnspecifiedMatching -orphanet.ordo:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref OMIM:618406 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref MESH:D010661 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref MeSH:D010661 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref MedDRA:10034872 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching -orphanet.ordo:716 Phenylketonuria oboInOwl:hasDbXref UMLS:C0031485 semapv:UnspecifiedMatching -orphanet.ordo:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref OMIM:261800 semapv:UnspecifiedMatching -orphanet.ordo:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C0031900 semapv:UnspecifiedMatching -orphanet.ordo:71862 Inherited retinal disorder oboInOwl:hasDbXref MESH:D058499 semapv:UnspecifiedMatching -orphanet.ordo:71862 Inherited retinal disorder oboInOwl:hasDbXref MeSH:D058499 semapv:UnspecifiedMatching -orphanet.ordo:71862 Inherited retinal disorder oboInOwl:hasDbXref MedDRA:10038857 semapv:UnspecifiedMatching -orphanet.ordo:71862 Inherited retinal disorder oboInOwl:hasDbXref UMLS:C0854723 semapv:UnspecifiedMatching -orphanet.ordo:72 Angelman syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:72 Angelman syndrome oboInOwl:hasDbXref MESH:D017204 semapv:UnspecifiedMatching -orphanet.ordo:72 Angelman syndrome oboInOwl:hasDbXref MeSH:D017204 semapv:UnspecifiedMatching -orphanet.ordo:72 Angelman syndrome oboInOwl:hasDbXref MedDRA:10049004 semapv:UnspecifiedMatching -orphanet.ordo:72 Angelman syndrome oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching -orphanet.ordo:72 Angelman syndrome oboInOwl:hasDbXref UMLS:C0162635 semapv:UnspecifiedMatching -orphanet.ordo:720 Pili bifurcati oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:721 Gray platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:721 Gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching -orphanet.ordo:721 Gray platelet syndrome oboInOwl:hasDbXref MeSH:D055652 semapv:UnspecifiedMatching -orphanet.ordo:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching -orphanet.ordo:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching -orphanet.ordo:721 Gray platelet syndrome oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching -orphanet.ordo:722 Hypoplasminogenemia oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching -orphanet.ordo:722 Hypoplasminogenemia oboInOwl:hasDbXref OMIM:217090 semapv:UnspecifiedMatching -orphanet.ordo:722 Hypoplasminogenemia oboInOwl:hasDbXref UMLS:C0398621 semapv:UnspecifiedMatching -orphanet.ordo:723 Pneumocystosis oboInOwl:hasDbXref ICD10:B48.5+ semapv:UnspecifiedMatching -orphanet.ordo:723 Pneumocystosis oboInOwl:hasDbXref ICD10:J17.2* semapv:UnspecifiedMatching -orphanet.ordo:723 Pneumocystosis oboInOwl:hasDbXref UMLS:C1535939 semapv:UnspecifiedMatching -orphanet.ordo:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching -orphanet.ordo:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching -orphanet.ordo:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MESH:D002549 semapv:UnspecifiedMatching -orphanet.ordo:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MeSH:D002549 semapv:UnspecifiedMatching -orphanet.ordo:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MedDRA:10062943 semapv:UnspecifiedMatching -orphanet.ordo:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv:UnspecifiedMatching -orphanet.ordo:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS:C0205710 semapv:UnspecifiedMatching -orphanet.ordo:727 Microscopic polyangiitis oboInOwl:hasDbXref ICD10:M31.7 semapv:UnspecifiedMatching -orphanet.ordo:727 Microscopic polyangiitis oboInOwl:hasDbXref MESH:D055953 semapv:UnspecifiedMatching -orphanet.ordo:727 Microscopic polyangiitis oboInOwl:hasDbXref MeSH:D055953 semapv:UnspecifiedMatching -orphanet.ordo:727 Microscopic polyangiitis oboInOwl:hasDbXref MedDRA:10063344 semapv:UnspecifiedMatching -orphanet.ordo:727 Microscopic polyangiitis oboInOwl:hasDbXref UMLS:C0343192 semapv:UnspecifiedMatching -orphanet.ordo:728 Relapsing polychondritis oboInOwl:hasDbXref ICD10:M94.1 semapv:UnspecifiedMatching -orphanet.ordo:728 Relapsing polychondritis oboInOwl:hasDbXref MESH:D011081 semapv:UnspecifiedMatching -orphanet.ordo:728 Relapsing polychondritis oboInOwl:hasDbXref MeSH:D011081 semapv:UnspecifiedMatching -orphanet.ordo:728 Relapsing polychondritis oboInOwl:hasDbXref MedDRA:10038304 semapv:UnspecifiedMatching -orphanet.ordo:728 Relapsing polychondritis oboInOwl:hasDbXref UMLS:C0032453 semapv:UnspecifiedMatching -orphanet.ordo:729 Polycythemia vera oboInOwl:hasDbXref ICD10:D45 semapv:UnspecifiedMatching -orphanet.ordo:729 Polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching -orphanet.ordo:729 Polycythemia vera oboInOwl:hasDbXref MeSH:D011087 semapv:UnspecifiedMatching -orphanet.ordo:729 Polycythemia vera oboInOwl:hasDbXref MedDRA:10036057 semapv:UnspecifiedMatching -orphanet.ordo:729 Polycythemia vera oboInOwl:hasDbXref OMIM:263300 semapv:UnspecifiedMatching -orphanet.ordo:729 Polycythemia vera oboInOwl:hasDbXref UMLS:C0032463 semapv:UnspecifiedMatching -orphanet.ordo:73 Gorham-Stout disease oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:73 Gorham-Stout disease oboInOwl:hasDbXref MedDRA:10071283 semapv:UnspecifiedMatching -orphanet.ordo:73 Gorham-Stout disease oboInOwl:hasDbXref OMIM:123880 semapv:UnspecifiedMatching -orphanet.ordo:73 Gorham-Stout disease oboInOwl:hasDbXref UMLS:C0029438 semapv:UnspecifiedMatching -orphanet.ordo:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching -orphanet.ordo:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:173900 semapv:UnspecifiedMatching -orphanet.ordo:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:600666 semapv:UnspecifiedMatching -orphanet.ordo:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:613095 semapv:UnspecifiedMatching -orphanet.ordo:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:618061 semapv:UnspecifiedMatching -orphanet.ordo:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:620056 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.1 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MeSH:D017044 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MedDRA:10036047 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:617610 semapv:UnspecifiedMatching -orphanet.ordo:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 semapv:UnspecifiedMatching -orphanet.ordo:732 Polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching -orphanet.ordo:732 Polymyositis oboInOwl:hasDbXref MESH:D017285 semapv:UnspecifiedMatching -orphanet.ordo:732 Polymyositis oboInOwl:hasDbXref MeSH:D017285 semapv:UnspecifiedMatching -orphanet.ordo:732 Polymyositis oboInOwl:hasDbXref MedDRA:10036102 semapv:UnspecifiedMatching -orphanet.ordo:732 Polymyositis oboInOwl:hasDbXref UMLS:C0085655 semapv:UnspecifiedMatching -orphanet.ordo:73217 Müllerian aplasia oboInOwl:hasDbXref MESH:C537371 semapv:UnspecifiedMatching -orphanet.ordo:73217 Müllerian aplasia oboInOwl:hasDbXref MeSH:C537371 semapv:UnspecifiedMatching -orphanet.ordo:73217 Müllerian aplasia oboInOwl:hasDbXref UMLS:C0431637 semapv:UnspecifiedMatching -orphanet.ordo:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching -orphanet.ordo:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:73229 HANAC syndrome oboInOwl:hasDbXref ICD10:I99 semapv:UnspecifiedMatching -orphanet.ordo:73229 HANAC syndrome oboInOwl:hasDbXref OMIM:611773 semapv:UnspecifiedMatching -orphanet.ordo:73229 HANAC syndrome oboInOwl:hasDbXref UMLS:C2673195 semapv:UnspecifiedMatching -orphanet.ordo:73230 Ossification anomalies-psychomotor developmental delay syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching -orphanet.ordo:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching -orphanet.ordo:73256 Central neurocytoma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching -orphanet.ordo:73256 Central neurocytoma oboInOwl:hasDbXref UMLS:C0206719 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.0 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.7 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.8 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.9 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MeSH:D010229 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MedDRA:10061906 semapv:UnspecifiedMatching -orphanet.ordo:73260 Paracoccidioidomycosis oboInOwl:hasDbXref UMLS:C0030409 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.0 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.1 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.2 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.3 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.4 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.5 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.8 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.9 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref MESH:D009091 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref MESH:D020096 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref MeSH:D009091 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref MeSH:D020096 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref MedDRA:10028098 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref MedDRA:10061418 semapv:UnspecifiedMatching -orphanet.ordo:73263 Zygomycosis oboInOwl:hasDbXref UMLS:C0043541 semapv:UnspecifiedMatching -orphanet.ordo:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching -orphanet.ordo:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref UMLS:C0751759 semapv:UnspecifiedMatching -orphanet.ordo:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching -orphanet.ordo:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching -orphanet.ordo:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref OMIM:608747 semapv:UnspecifiedMatching -orphanet.ordo:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref UMLS:C1837475 semapv:UnspecifiedMatching -orphanet.ordo:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching -orphanet.ordo:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref OMIM:270450 semapv:UnspecifiedMatching -orphanet.ordo:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref UMLS:C1849157 semapv:UnspecifiedMatching -orphanet.ordo:733 Familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:733 Familial adenomatous polyposis oboInOwl:hasDbXref MESH:D011125 semapv:UnspecifiedMatching -orphanet.ordo:733 Familial adenomatous polyposis oboInOwl:hasDbXref MeSH:D011125 semapv:UnspecifiedMatching -orphanet.ordo:733 Familial adenomatous polyposis oboInOwl:hasDbXref MedDRA:10056981 semapv:UnspecifiedMatching -orphanet.ordo:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching -orphanet.ordo:733 Familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C0032580 semapv:UnspecifiedMatching -orphanet.ordo:734 Alpha delta granule deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:734 Alpha delta granule deficiency oboInOwl:hasDbXref OMIM:185050 semapv:UnspecifiedMatching -orphanet.ordo:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching -orphanet.ordo:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref UMLS:C0274888 semapv:UnspecifiedMatching -orphanet.ordo:735 Porokeratosis of Mibelli oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175800 semapv:UnspecifiedMatching -orphanet.ordo:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching -orphanet.ordo:735 Porokeratosis of Mibelli oboInOwl:hasDbXref UMLS:C0949506 semapv:UnspecifiedMatching -orphanet.ordo:736 Palmoplantar porokeratosis of Mantoux oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref OMIM:175850 semapv:UnspecifiedMatching -orphanet.ordo:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref UMLS:C0162838 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref MESH:D011164 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref MeSH:D011164 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref MedDRA:10036181 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref MedDRA:10061356 semapv:UnspecifiedMatching -orphanet.ordo:738 Porphyria oboInOwl:hasDbXref UMLS:C0032708 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref MeSH:D011218 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref MedDRA:10036476 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching -orphanet.ordo:739 Prader-Willi syndrome oboInOwl:hasDbXref UMLS:C0032897 semapv:UnspecifiedMatching -orphanet.ordo:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B81.3 semapv:UnspecifiedMatching -orphanet.ordo:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B83.2 semapv:UnspecifiedMatching -orphanet.ordo:74 Angiostrongyliasis oboInOwl:hasDbXref MESH:C536369 semapv:UnspecifiedMatching -orphanet.ordo:74 Angiostrongyliasis oboInOwl:hasDbXref MeSH:C536369 semapv:UnspecifiedMatching -orphanet.ordo:74 Angiostrongyliasis oboInOwl:hasDbXref MedDRA:10069517 semapv:UnspecifiedMatching -orphanet.ordo:74 Angiostrongyliasis oboInOwl:hasDbXref UMLS:C0392662 semapv:UnspecifiedMatching -orphanet.ordo:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MESH:D011371 semapv:UnspecifiedMatching -orphanet.ordo:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MeSH:D011371 semapv:UnspecifiedMatching -orphanet.ordo:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MedDRA:10036794 semapv:UnspecifiedMatching -orphanet.ordo:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref OMIM:176670 semapv:UnspecifiedMatching -orphanet.ordo:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref UMLS:C0033300 semapv:UnspecifiedMatching -orphanet.ordo:741 Familial mitral valve prolapse oboInOwl:hasDbXref ICD10:I34.1 semapv:UnspecifiedMatching -orphanet.ordo:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:157700 semapv:UnspecifiedMatching -orphanet.ordo:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:607829 semapv:UnspecifiedMatching -orphanet.ordo:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:610840 semapv:UnspecifiedMatching -orphanet.ordo:741 Familial mitral valve prolapse oboInOwl:hasDbXref UMLS:C0340364 semapv:UnspecifiedMatching -orphanet.ordo:742 Prolidase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:742 Prolidase deficiency oboInOwl:hasDbXref MESH:D056732 semapv:UnspecifiedMatching -orphanet.ordo:742 Prolidase deficiency oboInOwl:hasDbXref MeSH:D056732 semapv:UnspecifiedMatching -orphanet.ordo:742 Prolidase deficiency oboInOwl:hasDbXref OMIM:170100 semapv:UnspecifiedMatching -orphanet.ordo:742 Prolidase deficiency oboInOwl:hasDbXref UMLS:C0268532 semapv:UnspecifiedMatching -orphanet.ordo:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching -orphanet.ordo:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:612336 semapv:UnspecifiedMatching -orphanet.ordo:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:614514 semapv:UnspecifiedMatching -orphanet.ordo:744 Proteus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:744 Proteus syndrome oboInOwl:hasDbXref MESH:D016715 semapv:UnspecifiedMatching -orphanet.ordo:744 Proteus syndrome oboInOwl:hasDbXref MeSH:D016715 semapv:UnspecifiedMatching -orphanet.ordo:744 Proteus syndrome oboInOwl:hasDbXref OMIM:176920 semapv:UnspecifiedMatching -orphanet.ordo:744 Proteus syndrome oboInOwl:hasDbXref UMLS:C0085261 semapv:UnspecifiedMatching -orphanet.ordo:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:176860 semapv:UnspecifiedMatching -orphanet.ordo:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:612304 semapv:UnspecifiedMatching -orphanet.ordo:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref UMLS:C2930896 semapv:UnspecifiedMatching -orphanet.ordo:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:D024741 semapv:UnspecifiedMatching -orphanet.ordo:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MeSH:D024741 semapv:UnspecifiedMatching -orphanet.ordo:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching -orphanet.ordo:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 semapv:UnspecifiedMatching -orphanet.ordo:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610910 semapv:UnspecifiedMatching -orphanet.ordo:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C1970472 semapv:UnspecifiedMatching -orphanet.ordo:748 Mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref UMLS:C3266863 semapv:UnspecifiedMatching -orphanet.ordo:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref OMIM:612423 semapv:UnspecifiedMatching -orphanet.ordo:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref UMLS:C0272339 semapv:UnspecifiedMatching -orphanet.ordo:750 Pseudoachondroplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:750 Pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 semapv:UnspecifiedMatching -orphanet.ordo:750 Pseudoachondroplasia oboInOwl:hasDbXref MeSH:C535819 semapv:UnspecifiedMatching -orphanet.ordo:750 Pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 semapv:UnspecifiedMatching -orphanet.ordo:750 Pseudoachondroplasia oboInOwl:hasDbXref UMLS:C0410538 semapv:UnspecifiedMatching -orphanet.ordo:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching -orphanet.ordo:75110 Myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching -orphanet.ordo:75110 Myiasis oboInOwl:hasDbXref MeSH:D009198 semapv:UnspecifiedMatching -orphanet.ordo:75110 Myiasis oboInOwl:hasDbXref MedDRA:10028586 semapv:UnspecifiedMatching -orphanet.ordo:75110 Myiasis oboInOwl:hasDbXref UMLS:C0027030 semapv:UnspecifiedMatching -orphanet.ordo:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching -orphanet.ordo:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref OMIM:264300 semapv:UnspecifiedMatching -orphanet.ordo:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref UMLS:C0268296 semapv:UnspecifiedMatching -orphanet.ordo:75233 Wolman disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:75233 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:UnspecifiedMatching -orphanet.ordo:75233 Wolman disease oboInOwl:hasDbXref MeSH:D015223 semapv:UnspecifiedMatching -orphanet.ordo:75233 Wolman disease oboInOwl:hasDbXref MedDRA:10053687 semapv:UnspecifiedMatching -orphanet.ordo:75233 Wolman disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching -orphanet.ordo:75233 Wolman disease oboInOwl:hasDbXref UMLS:C0043208 semapv:UnspecifiedMatching -orphanet.ordo:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching -orphanet.ordo:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref UMLS:C0008384 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref ICD10:I42.5 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:609578 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:612422 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:615248 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:617047 semapv:UnspecifiedMatching -orphanet.ordo:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:619433 semapv:UnspecifiedMatching -orphanet.ordo:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching -orphanet.ordo:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref MedDRA:10000029 semapv:UnspecifiedMatching -orphanet.ordo:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref OMIM:264600 semapv:UnspecifiedMatching -orphanet.ordo:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref UMLS:C0268297 semapv:UnspecifiedMatching -orphanet.ordo:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref MESH:C536064 semapv:UnspecifiedMatching -orphanet.ordo:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref MeSH:C536064 semapv:UnspecifiedMatching -orphanet.ordo:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref OMIM:609993 semapv:UnspecifiedMatching -orphanet.ordo:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref UMLS:C1864942 semapv:UnspecifiedMatching -orphanet.ordo:75326 Retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching -orphanet.ordo:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:75327 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 semapv:UnspecifiedMatching -orphanet.ordo:75327 North Carolina macular dystrophy oboInOwl:hasDbXref MeSH:C537835 semapv:UnspecifiedMatching -orphanet.ordo:75327 North Carolina macular dystrophy oboInOwl:hasDbXref OMIM:136550 semapv:UnspecifiedMatching -orphanet.ordo:75327 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS:C0730294 semapv:UnspecifiedMatching -orphanet.ordo:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref MESH:C535356 semapv:UnspecifiedMatching -orphanet.ordo:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref MeSH:C535356 semapv:UnspecifiedMatching -orphanet.ordo:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref OMIM:600790 semapv:UnspecifiedMatching -orphanet.ordo:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1833321 semapv:UnspecifiedMatching -orphanet.ordo:75374 Bradyopsia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching -orphanet.ordo:75374 Bradyopsia oboInOwl:hasDbXref OMIM:608415 semapv:UnspecifiedMatching -orphanet.ordo:75376 Familial drusen oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:75376 Familial drusen oboInOwl:hasDbXref OMIM:126600 semapv:UnspecifiedMatching -orphanet.ordo:75376 Familial drusen oboInOwl:hasDbXref OMIM:126700 semapv:UnspecifiedMatching -orphanet.ordo:75376 Familial drusen oboInOwl:hasDbXref UMLS:C1832174 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref MESH:C535358 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref MeSH:C535358 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:215500 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613105 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613144 semapv:UnspecifiedMatching -orphanet.ordo:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref UMLS:C1536451 semapv:UnspecifiedMatching -orphanet.ordo:75378 Oligocone trichromacy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching -orphanet.ordo:75381 Cystoid macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:75381 Cystoid macular dystrophy oboInOwl:hasDbXref OMIM:153880 semapv:UnspecifiedMatching -orphanet.ordo:75382 Oguchi disease oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching -orphanet.ordo:75382 Oguchi disease oboInOwl:hasDbXref MESH:C537743 semapv:UnspecifiedMatching -orphanet.ordo:75382 Oguchi disease oboInOwl:hasDbXref MeSH:C537743 semapv:UnspecifiedMatching -orphanet.ordo:75382 Oguchi disease oboInOwl:hasDbXref OMIM:258100 semapv:UnspecifiedMatching -orphanet.ordo:75382 Oguchi disease oboInOwl:hasDbXref OMIM:613411 semapv:UnspecifiedMatching -orphanet.ordo:75382 Oguchi disease oboInOwl:hasDbXref UMLS:C1306122 semapv:UnspecifiedMatching -orphanet.ordo:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref OMIM:609981 semapv:UnspecifiedMatching -orphanet.ordo:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130080 semapv:UnspecifiedMatching -orphanet.ordo:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617174 semapv:UnspecifiedMatching -orphanet.ordo:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268347 semapv:UnspecifiedMatching -orphanet.ordo:754 Androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching -orphanet.ordo:754 Androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv:UnspecifiedMatching -orphanet.ordo:754 Androgen insensitivity syndrome oboInOwl:hasDbXref MeSH:D013734 semapv:UnspecifiedMatching -orphanet.ordo:754 Androgen insensitivity syndrome oboInOwl:hasDbXref MedDRA:10056292 semapv:UnspecifiedMatching -orphanet.ordo:754 Androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0039585 semapv:UnspecifiedMatching -orphanet.ordo:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536201 semapv:UnspecifiedMatching -orphanet.ordo:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref MeSH:C536201 semapv:UnspecifiedMatching -orphanet.ordo:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130070 semapv:UnspecifiedMatching -orphanet.ordo:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C1869122 semapv:UnspecifiedMatching -orphanet.ordo:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536197 semapv:UnspecifiedMatching -orphanet.ordo:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref MeSH:C536197 semapv:UnspecifiedMatching -orphanet.ordo:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching -orphanet.ordo:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268341 semapv:UnspecifiedMatching -orphanet.ordo:755 Leydig cell hypoplasia oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:755 Leydig cell hypoplasia oboInOwl:hasDbXref MedDRA:10024406 semapv:UnspecifiedMatching -orphanet.ordo:755 Leydig cell hypoplasia oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching -orphanet.ordo:755 Leydig cell hypoplasia oboInOwl:hasDbXref UMLS:C0860158 semapv:UnspecifiedMatching -orphanet.ordo:75508 Angioosteohypotrophic syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref MESH:C536761 semapv:UnspecifiedMatching -orphanet.ordo:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref MeSH:C536761 semapv:UnspecifiedMatching -orphanet.ordo:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref OMIM:300751 semapv:UnspecifiedMatching -orphanet.ordo:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.3 semapv:UnspecifiedMatching -orphanet.ordo:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref UMLS:C1264195 semapv:UnspecifiedMatching -orphanet.ordo:75565 Tropical endomyocardial fibrosis oboInOwl:hasDbXref ICD10:I42.3 semapv:UnspecifiedMatching -orphanet.ordo:75566 Loeffler endocarditis oboInOwl:hasDbXref ICD10:I42.3 semapv:UnspecifiedMatching -orphanet.ordo:75566 Loeffler endocarditis oboInOwl:hasDbXref MedDRA:10052841 semapv:UnspecifiedMatching -orphanet.ordo:75566 Loeffler endocarditis oboInOwl:hasDbXref UMLS:C0206143 semapv:UnspecifiedMatching -orphanet.ordo:75567 Primary progressive freezing gait oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching -orphanet.ordo:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MeSH:D011546 semapv:UnspecifiedMatching -orphanet.ordo:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching -orphanet.ordo:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 semapv:UnspecifiedMatching -orphanet.ordo:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C0268436 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:145260 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614491 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614492 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614495 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614496 semapv:UnspecifiedMatching -orphanet.ordo:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref UMLS:C1449844 semapv:UnspecifiedMatching -orphanet.ordo:75789 SIBIDS syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:75790 Pollitt syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:75790 Pollitt syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MeSH:D011561 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MedDRA:10037150 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:177850 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 semapv:UnspecifiedMatching -orphanet.ordo:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C0033847 semapv:UnspecifiedMatching -orphanet.ordo:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching -orphanet.ordo:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref OMIM:616470 semapv:UnspecifiedMatching -orphanet.ordo:75840 Congenital muscular dystrophy, Ullrich type oboInOwl:hasDbXref UMLS:C0410179 semapv:UnspecifiedMatching -orphanet.ordo:75857 6q terminal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:75858 MORM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:75858 MORM syndrome oboInOwl:hasDbXref MESH:C536984 semapv:UnspecifiedMatching -orphanet.ordo:75858 MORM syndrome oboInOwl:hasDbXref MeSH:C536984 semapv:UnspecifiedMatching -orphanet.ordo:75858 MORM syndrome oboInOwl:hasDbXref OMIM:610156 semapv:UnspecifiedMatching -orphanet.ordo:75858 MORM syndrome oboInOwl:hasDbXref UMLS:C1857802 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.0 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.1 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.7 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.9 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref MESH:D013322 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref MeSH:D013322 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref MedDRA:10042254 semapv:UnspecifiedMatching -orphanet.ordo:76 Strongyloidiasis oboInOwl:hasDbXref UMLS:C0038463 semapv:UnspecifiedMatching -orphanet.ordo:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10:D81.5 semapv:UnspecifiedMatching -orphanet.ordo:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref OMIM:613179 semapv:UnspecifiedMatching -orphanet.ordo:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0268125 semapv:UnspecifiedMatching -orphanet.ordo:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref ICD10:D69.0 semapv:UnspecifiedMatching -orphanet.ordo:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref UMLS:C0034152 semapv:UnspecifiedMatching -orphanet.ordo:763 Pycnodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:763 Pycnodysostosis oboInOwl:hasDbXref MESH:D058631 semapv:UnspecifiedMatching -orphanet.ordo:763 Pycnodysostosis oboInOwl:hasDbXref MeSH:D058631 semapv:UnspecifiedMatching -orphanet.ordo:763 Pycnodysostosis oboInOwl:hasDbXref OMIM:265800 semapv:UnspecifiedMatching -orphanet.ordo:763 Pycnodysostosis oboInOwl:hasDbXref UMLS:C0238402 semapv:UnspecifiedMatching -orphanet.ordo:764 Pyomyositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching -orphanet.ordo:764 Pyomyositis oboInOwl:hasDbXref MESH:D052880 semapv:UnspecifiedMatching -orphanet.ordo:764 Pyomyositis oboInOwl:hasDbXref MeSH:D052880 semapv:UnspecifiedMatching -orphanet.ordo:764 Pyomyositis oboInOwl:hasDbXref MedDRA:10037652 semapv:UnspecifiedMatching -orphanet.ordo:764 Pyomyositis oboInOwl:hasDbXref UMLS:C0041188 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536257 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MESH:D015325 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MeSH:C536257 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MeSH:D015325 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching -orphanet.ordo:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0034345 semapv:UnspecifiedMatching -orphanet.ordo:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching -orphanet.ordo:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref OMIM:266200 semapv:UnspecifiedMatching -orphanet.ordo:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref UMLS:C0340968 semapv:UnspecifiedMatching -orphanet.ordo:767 Polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching -orphanet.ordo:767 Polyarteritis nodosa oboInOwl:hasDbXref MESH:D010488 semapv:UnspecifiedMatching -orphanet.ordo:767 Polyarteritis nodosa oboInOwl:hasDbXref MeSH:D010488 semapv:UnspecifiedMatching -orphanet.ordo:767 Polyarteritis nodosa oboInOwl:hasDbXref MedDRA:10036024 semapv:UnspecifiedMatching -orphanet.ordo:767 Polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0031036 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref MedDRA:10057926 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:601005 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:603830 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:611818 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:611820 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:612955 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613693 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613695 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching -orphanet.ordo:768 Familial long QT syndrome oboInOwl:hasDbXref UMLS:C1141890 semapv:UnspecifiedMatching -orphanet.ordo:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref MESH:D056731 semapv:UnspecifiedMatching -orphanet.ordo:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref MeSH:D056731 semapv:UnspecifiedMatching -orphanet.ordo:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref OMIM:262190 semapv:UnspecifiedMatching -orphanet.ordo:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref UMLS:C0271695 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref ICD10:A82.0 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref ICD10:A82.1 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref ICD10:A82.9 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref MESH:D011818 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref MeSH:D011818 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref MedDRA:10037742 semapv:UnspecifiedMatching -orphanet.ordo:770 Rabies oboInOwl:hasDbXref UMLS:C0034494 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.0 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.1 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.3 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.4 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.5 semapv:UnspecifiedMatching -orphanet.ordo:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref MeSH:D052919 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching -orphanet.ordo:772 Infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 semapv:UnspecifiedMatching -orphanet.ordo:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching -orphanet.ordo:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref OMIM:614103 semapv:UnspecifiedMatching -orphanet.ordo:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref OMIM:190350 semapv:UnspecifiedMatching -orphanet.ordo:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref OMIM:190351 semapv:UnspecifiedMatching -orphanet.ordo:77259 Gaucher disease type 1 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:77259 Gaucher disease type 1 oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching -orphanet.ordo:77259 Gaucher disease type 1 oboInOwl:hasDbXref UMLS:C1961835 semapv:UnspecifiedMatching -orphanet.ordo:77260 Gaucher disease type 2 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:77260 Gaucher disease type 2 oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching -orphanet.ordo:77260 Gaucher disease type 2 oboInOwl:hasDbXref UMLS:C0268250 semapv:UnspecifiedMatching -orphanet.ordo:77261 Gaucher disease type 3 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:77261 Gaucher disease type 3 oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching -orphanet.ordo:77261 Gaucher disease type 3 oboInOwl:hasDbXref UMLS:C0268251 semapv:UnspecifiedMatching -orphanet.ordo:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MESH:D052536 semapv:UnspecifiedMatching -orphanet.ordo:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MeSH:D052536 semapv:UnspecifiedMatching -orphanet.ordo:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref OMIM:257200 semapv:UnspecifiedMatching -orphanet.ordo:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C0268242 semapv:UnspecifiedMatching -orphanet.ordo:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MESH:D052537 semapv:UnspecifiedMatching -orphanet.ordo:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MeSH:D052537 semapv:UnspecifiedMatching -orphanet.ordo:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref OMIM:607616 semapv:UnspecifiedMatching -orphanet.ordo:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C0268243 semapv:UnspecifiedMatching -orphanet.ordo:77295 Odontoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:77295 Odontoleukodystrophy oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching -orphanet.ordo:77295 Odontoleukodystrophy oboInOwl:hasDbXref UMLS:C3502054 semapv:UnspecifiedMatching -orphanet.ordo:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching -orphanet.ordo:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref OMIM:144800 semapv:UnspecifiedMatching -orphanet.ordo:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref UMLS:C0020494 semapv:UnspecifiedMatching -orphanet.ordo:77297 Majeed syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:77297 Majeed syndrome oboInOwl:hasDbXref MESH:C537839 semapv:UnspecifiedMatching -orphanet.ordo:77297 Majeed syndrome oboInOwl:hasDbXref MeSH:C537839 semapv:UnspecifiedMatching -orphanet.ordo:77297 Majeed syndrome oboInOwl:hasDbXref MedDRA:10072223 semapv:UnspecifiedMatching -orphanet.ordo:77297 Majeed syndrome oboInOwl:hasDbXref OMIM:609628 semapv:UnspecifiedMatching -orphanet.ordo:77297 Majeed syndrome oboInOwl:hasDbXref UMLS:C1864997 semapv:UnspecifiedMatching -orphanet.ordo:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref OMIM:206900 semapv:UnspecifiedMatching -orphanet.ordo:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref UMLS:C1859773 semapv:UnspecifiedMatching -orphanet.ordo:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref OMIM:611222 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref MeSH:D012035 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref MedDRA:10038275 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref OMIM:614879 semapv:UnspecifiedMatching -orphanet.ordo:773 Refsum disease oboInOwl:hasDbXref UMLS:C0034960 semapv:UnspecifiedMatching -orphanet.ordo:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:77301 Monosomy 9q22.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:77301 Monosomy 9q22.3 oboInOwl:hasDbXref UMLS:C3711390 semapv:UnspecifiedMatching -orphanet.ordo:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10:I78.0 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref MedDRA:10019883 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:187300 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:600376 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:601101 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:610655 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:615506 semapv:UnspecifiedMatching -orphanet.ordo:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS:C0039445 semapv:UnspecifiedMatching -orphanet.ordo:776 Lujan-Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:776 Lujan-Fryns syndrome oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching -orphanet.ordo:776 Lujan-Fryns syndrome oboInOwl:hasDbXref OMIM:309520 semapv:UnspecifiedMatching -orphanet.ordo:776 Lujan-Fryns syndrome oboInOwl:hasDbXref UMLS:C0796022 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300046 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300047 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300062 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300115 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300143 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300210 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300271 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300324 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300355 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300372 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300387 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300419 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300428 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300433 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300436 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300454 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300498 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300505 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300518 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300558 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300705 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300716 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300802 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300803 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300844 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300848 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300849 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300850 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300851 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300852 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300919 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300928 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300978 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300983 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300984 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:301013 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:309530 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:309549 semapv:UnspecifiedMatching -orphanet.ordo:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C2931498 semapv:UnspecifiedMatching -orphanet.ordo:778 Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching -orphanet.ordo:778 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching -orphanet.ordo:778 Rett syndrome oboInOwl:hasDbXref MeSH:D015518 semapv:UnspecifiedMatching -orphanet.ordo:778 Rett syndrome oboInOwl:hasDbXref MedDRA:10039000 semapv:UnspecifiedMatching -orphanet.ordo:778 Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching -orphanet.ordo:778 Rett syndrome oboInOwl:hasDbXref UMLS:C0035372 semapv:UnspecifiedMatching -orphanet.ordo:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching -orphanet.ordo:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching -orphanet.ordo:779 Reynolds syndrome oboInOwl:hasDbXref OMIM:613471 semapv:UnspecifiedMatching -orphanet.ordo:779 Reynolds syndrome oboInOwl:hasDbXref UMLS:C0748397 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.0 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.1 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.8 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D000724 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D006725 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref MeSH:D000724 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref MeSH:D006725 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10002255 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10020376 semapv:UnspecifiedMatching -orphanet.ordo:78 Ankylostomiasis oboInOwl:hasDbXref UMLS:C0002831 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref MeSH:D012208 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10039022 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching -orphanet.ordo:780 Rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0035412 semapv:UnspecifiedMatching -orphanet.ordo:781 Q fever oboInOwl:hasDbXref ICD10:A78 semapv:UnspecifiedMatching -orphanet.ordo:781 Q fever oboInOwl:hasDbXref MESH:D011778 semapv:UnspecifiedMatching -orphanet.ordo:781 Q fever oboInOwl:hasDbXref MeSH:D011778 semapv:UnspecifiedMatching -orphanet.ordo:781 Q fever oboInOwl:hasDbXref MedDRA:10037688 semapv:UnspecifiedMatching -orphanet.ordo:781 Q fever oboInOwl:hasDbXref MedDRA:10037731 semapv:UnspecifiedMatching -orphanet.ordo:781 Q fever oboInOwl:hasDbXref UMLS:C0034362 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MeSH:C535679 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MedDRA:10059255 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:180500 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:601499 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching -orphanet.ordo:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS:C3495488 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MESH:D012415 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MeSH:D012415 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MedDRA:10039281 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching -orphanet.ordo:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS:C0035934 semapv:UnspecifiedMatching -orphanet.ordo:785 Estrogen resistance syndrome oboInOwl:hasDbXref ICD10:E30.8 semapv:UnspecifiedMatching -orphanet.ordo:785 Estrogen resistance syndrome oboInOwl:hasDbXref OMIM:615363 semapv:UnspecifiedMatching -orphanet.ordo:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching -orphanet.ordo:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref OMIM:615962 semapv:UnspecifiedMatching -orphanet.ordo:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref UMLS:C1841972 semapv:UnspecifiedMatching -orphanet.ordo:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching -orphanet.ordo:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref OMIM:262850 semapv:UnspecifiedMatching -orphanet.ordo:790 Retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching -orphanet.ordo:790 Retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching -orphanet.ordo:790 Retinoblastoma oboInOwl:hasDbXref MeSH:D012175 semapv:UnspecifiedMatching -orphanet.ordo:790 Retinoblastoma oboInOwl:hasDbXref MedDRA:10038916 semapv:UnspecifiedMatching -orphanet.ordo:790 Retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching -orphanet.ordo:790 Retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 semapv:UnspecifiedMatching -orphanet.ordo:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref OMIM:300209 semapv:UnspecifiedMatching -orphanet.ordo:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref UMLS:C1846175 semapv:UnspecifiedMatching -orphanet.ordo:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching -orphanet.ordo:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching -orphanet.ordo:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref ICD10:K11.8 semapv:UnspecifiedMatching -orphanet.ordo:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MESH:D008882 semapv:UnspecifiedMatching -orphanet.ordo:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MeSH:D008882 semapv:UnspecifiedMatching -orphanet.ordo:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MedDRA:10051457 semapv:UnspecifiedMatching -orphanet.ordo:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MedDRA:10052317 semapv:UnspecifiedMatching -orphanet.ordo:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref UMLS:C0026103 semapv:UnspecifiedMatching -orphanet.ordo:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching -orphanet.ordo:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching -orphanet.ordo:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref OMIM:608600 semapv:UnspecifiedMatching -orphanet.ordo:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching -orphanet.ordo:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0271693 semapv:UnspecifiedMatching -orphanet.ordo:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref OMIM:608709 semapv:UnspecifiedMatching -orphanet.ordo:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref UMLS:C0220989 semapv:UnspecifiedMatching -orphanet.ordo:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching -orphanet.ordo:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref ICD10:G37.4 semapv:UnspecifiedMatching -orphanet.ordo:79094 Grange syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:79094 Grange syndrome oboInOwl:hasDbXref OMIM:602531 semapv:UnspecifiedMatching -orphanet.ordo:79094 Grange syndrome oboInOwl:hasDbXref UMLS:C1865267 semapv:UnspecifiedMatching -orphanet.ordo:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching -orphanet.ordo:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref MeSH:C535444 semapv:UnspecifiedMatching -orphanet.ordo:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching -orphanet.ordo:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:614307 semapv:UnspecifiedMatching -orphanet.ordo:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref UMLS:C3280428 semapv:UnspecifiedMatching -orphanet.ordo:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching -orphanet.ordo:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching -orphanet.ordo:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref UMLS:C1864723 semapv:UnspecifiedMatching -orphanet.ordo:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:79098 Sympathetic ophthalmia oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching -orphanet.ordo:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 semapv:UnspecifiedMatching -orphanet.ordo:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MeSH:D009879 semapv:UnspecifiedMatching -orphanet.ordo:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MedDRA:10042742 semapv:UnspecifiedMatching -orphanet.ordo:79098 Sympathetic ophthalmia oboInOwl:hasDbXref UMLS:C0029077 semapv:UnspecifiedMatching -orphanet.ordo:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref MESH:D012174 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref MeSH:D012174 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref MedDRA:10038914 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180100 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180104 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180105 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180210 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268000 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268025 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268060 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300029 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300155 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300424 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300605 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:312600 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:312612 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:400004 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600059 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600105 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600132 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600138 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600852 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:601414 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:601718 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:602594 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:602772 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:606068 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:607921 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:608133 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:608380 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:609913 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:609923 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610282 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610359 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610599 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:611131 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612095 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612165 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612572 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612712 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612943 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613194 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613428 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613464 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613575 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613581 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613582 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613617 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613660 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613731 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613750 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613756 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613758 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613767 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613769 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613794 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613801 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613809 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613810 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613827 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613861 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613862 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613983 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614180 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614181 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614494 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614500 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615233 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615434 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615565 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615725 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615780 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615922 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616188 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616394 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616469 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616544 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616562 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617023 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617123 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617304 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617433 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617460 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617781 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618173 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618195 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618220 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618345 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618613 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618697 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618826 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618955 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:619007 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:619845 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:620102 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:620228 semapv:UnspecifiedMatching -orphanet.ordo:791 Retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0035334 semapv:UnspecifiedMatching -orphanet.ordo:79100 Atrophoderma vermiculata oboInOwl:hasDbXref ICD10:L66.4 semapv:UnspecifiedMatching -orphanet.ordo:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 semapv:UnspecifiedMatching -orphanet.ordo:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching -orphanet.ordo:79100 Atrophoderma vermiculata oboInOwl:hasDbXref UMLS:C0263429 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MeSH:C538385 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MedDRA:10058512 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MedDRA:10058514 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 semapv:UnspecifiedMatching -orphanet.ordo:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref UMLS:C2931835 semapv:UnspecifiedMatching -orphanet.ordo:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching -orphanet.ordo:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref MedDRA:10043788 semapv:UnspecifiedMatching -orphanet.ordo:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:188580 semapv:UnspecifiedMatching -orphanet.ordo:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:613239 semapv:UnspecifiedMatching -orphanet.ordo:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:614834 semapv:UnspecifiedMatching -orphanet.ordo:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref UMLS:C0268446 semapv:UnspecifiedMatching -orphanet.ordo:79105 Myxofibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:79105 Myxofibrosarcoma oboInOwl:hasDbXref MedDRA:10066948 semapv:UnspecifiedMatching -orphanet.ordo:79105 Myxofibrosarcoma oboInOwl:hasDbXref UMLS:C3714524 semapv:UnspecifiedMatching -orphanet.ordo:79106 Eiken syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:79106 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching -orphanet.ordo:79106 Eiken syndrome oboInOwl:hasDbXref UMLS:C1838779 semapv:UnspecifiedMatching -orphanet.ordo:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref OMIM:607371 semapv:UnspecifiedMatching -orphanet.ordo:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref OMIM:610536 semapv:UnspecifiedMatching -orphanet.ordo:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1864652 semapv:UnspecifiedMatching -orphanet.ordo:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref OMIM:610199 semapv:UnspecifiedMatching -orphanet.ordo:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching -orphanet.ordo:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:235550 semapv:UnspecifiedMatching -orphanet.ordo:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1856128 semapv:UnspecifiedMatching -orphanet.ordo:79126 Acute interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:79126 Acute interstitial pneumonia oboInOwl:hasDbXref MedDRA:10066728 semapv:UnspecifiedMatching -orphanet.ordo:79126 Acute interstitial pneumonia oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching -orphanet.ordo:79126 Acute interstitial pneumonia oboInOwl:hasDbXref UMLS:C1279945 semapv:UnspecifiedMatching -orphanet.ordo:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref ICD10:J68.4 semapv:UnspecifiedMatching -orphanet.ordo:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref MedDRA:10066393 semapv:UnspecifiedMatching -orphanet.ordo:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref UMLS:C1735355 semapv:UnspecifiedMatching -orphanet.ordo:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref MedDRA:10062997 semapv:UnspecifiedMatching -orphanet.ordo:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref OMIM:247610 semapv:UnspecifiedMatching -orphanet.ordo:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref UMLS:C0264511 semapv:UnspecifiedMatching -orphanet.ordo:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref MESH:C536385 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref MESH:C537068 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref MeSH:C536385 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref MeSH:C537068 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref OMIM:136500 semapv:UnspecifiedMatching -orphanet.ordo:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref UMLS:C2936827 semapv:UnspecifiedMatching -orphanet.ordo:79134 DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:79134 DEND syndrome oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching -orphanet.ordo:79134 DEND syndrome oboInOwl:hasDbXref UMLS:C1853564 semapv:UnspecifiedMatching -orphanet.ordo:79135 Episodic ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:79135 Episodic ataxia type 3 oboInOwl:hasDbXref OMIM:606554 semapv:UnspecifiedMatching -orphanet.ordo:79135 Episodic ataxia type 3 oboInOwl:hasDbXref UMLS:C1847839 semapv:UnspecifiedMatching -orphanet.ordo:79136 Episodic ataxia type 4 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:79136 Episodic ataxia type 4 oboInOwl:hasDbXref OMIM:606552 semapv:UnspecifiedMatching -orphanet.ordo:79136 Episodic ataxia type 4 oboInOwl:hasDbXref UMLS:C1847843 semapv:UnspecifiedMatching -orphanet.ordo:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref OMIM:609446 semapv:UnspecifiedMatching -orphanet.ordo:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1836173 semapv:UnspecifiedMatching -orphanet.ordo:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref UMLS:C1960543 semapv:UnspecifiedMatching -orphanet.ordo:79139 Japanese encephalitis oboInOwl:hasDbXref ICD10:A83.0 semapv:UnspecifiedMatching -orphanet.ordo:79139 Japanese encephalitis oboInOwl:hasDbXref MESH:D004672 semapv:UnspecifiedMatching -orphanet.ordo:79139 Japanese encephalitis oboInOwl:hasDbXref MeSH:D004672 semapv:UnspecifiedMatching -orphanet.ordo:79139 Japanese encephalitis oboInOwl:hasDbXref MedDRA:10014596 semapv:UnspecifiedMatching -orphanet.ordo:79139 Japanese encephalitis oboInOwl:hasDbXref UMLS:C0014057 semapv:UnspecifiedMatching -orphanet.ordo:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching -orphanet.ordo:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.6 semapv:UnspecifiedMatching -orphanet.ordo:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.7 semapv:UnspecifiedMatching -orphanet.ordo:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C0007129 semapv:UnspecifiedMatching -orphanet.ordo:79141 Hereditary painful callosities oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79141 Hereditary painful callosities oboInOwl:hasDbXref OMIM:114140 semapv:UnspecifiedMatching -orphanet.ordo:79141 Hereditary painful callosities oboInOwl:hasDbXref UMLS:C1861964 semapv:UnspecifiedMatching -orphanet.ordo:79142 NON RARE IN EUROPE: Familial Dupuytren contracture oboInOwl:hasDbXref ICD10:M72.0 semapv:UnspecifiedMatching -orphanet.ordo:79143 Isolated congenital anonychia oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching -orphanet.ordo:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:107000 semapv:UnspecifiedMatching -orphanet.ordo:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching -orphanet.ordo:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:614149 semapv:UnspecifiedMatching -orphanet.ordo:79143 Isolated congenital anonychia oboInOwl:hasDbXref UMLS:C0265998 semapv:UnspecifiedMatching -orphanet.ordo:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching -orphanet.ordo:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref OMIM:605779 semapv:UnspecifiedMatching -orphanet.ordo:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref UMLS:C1853984 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref MedDRA:10068651 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:179850 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615327 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615674 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615696 semapv:UnspecifiedMatching -orphanet.ordo:79145 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C3714534 semapv:UnspecifiedMatching -orphanet.ordo:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching -orphanet.ordo:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching -orphanet.ordo:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref OMIM:614233 semapv:UnspecifiedMatching -orphanet.ordo:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref UMLS:C1840392 semapv:UnspecifiedMatching -orphanet.ordo:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref ICD10:L87.1 semapv:UnspecifiedMatching -orphanet.ordo:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref OMIM:216700 semapv:UnspecifiedMatching -orphanet.ordo:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref UMLS:C1857624 semapv:UnspecifiedMatching -orphanet.ordo:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref ICD10:L87.2 semapv:UnspecifiedMatching -orphanet.ordo:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MESH:C536202 semapv:UnspecifiedMatching -orphanet.ordo:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MeSH:C536202 semapv:UnspecifiedMatching -orphanet.ordo:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MedDRA:10014338 semapv:UnspecifiedMatching -orphanet.ordo:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref OMIM:130100 semapv:UnspecifiedMatching -orphanet.ordo:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref UMLS:C0221271 semapv:UnspecifiedMatching -orphanet.ordo:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref OMIM:221800 semapv:UnspecifiedMatching -orphanet.ordo:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref UMLS:C0432288 semapv:UnspecifiedMatching -orphanet.ordo:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching -orphanet.ordo:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref OMIM:614323 semapv:UnspecifiedMatching -orphanet.ordo:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref UMLS:C1304501 semapv:UnspecifiedMatching -orphanet.ordo:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref MedDRA:10069445 semapv:UnspecifiedMatching -orphanet.ordo:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref OMIM:101900 semapv:UnspecifiedMatching -orphanet.ordo:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref UMLS:C0265971 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:607728 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:612293 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:612353 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:614714 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:616063 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:616631 semapv:UnspecifiedMatching -orphanet.ordo:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref UMLS:C0265970 semapv:UnspecifiedMatching -orphanet.ordo:79153 Idiopathic trachyonychia oboInOwl:hasDbXref ICD10:L60.3 semapv:UnspecifiedMatching -orphanet.ordo:79153 Idiopathic trachyonychia oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching -orphanet.ordo:79153 Idiopathic trachyonychia oboInOwl:hasDbXref UMLS:C0406443 semapv:UnspecifiedMatching -orphanet.ordo:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref OMIM:204750 semapv:UnspecifiedMatching -orphanet.ordo:79155 Hydroxykynureninuria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:79155 Hydroxykynureninuria oboInOwl:hasDbXref OMIM:236800 semapv:UnspecifiedMatching -orphanet.ordo:79155 Hydroxykynureninuria oboInOwl:hasDbXref UMLS:C0268474 semapv:UnspecifiedMatching -orphanet.ordo:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching -orphanet.ordo:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref OMIM:236900 semapv:UnspecifiedMatching -orphanet.ordo:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:610006 semapv:UnspecifiedMatching -orphanet.ordo:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1864912 semapv:UnspecifiedMatching -orphanet.ordo:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535541 semapv:UnspecifiedMatching -orphanet.ordo:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MeSH:C535541 semapv:UnspecifiedMatching -orphanet.ordo:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:611283 semapv:UnspecifiedMatching -orphanet.ordo:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1969809 semapv:UnspecifiedMatching -orphanet.ordo:79161 Disorder of carbohydrate metabolism oboInOwl:hasDbXref MedDRA:10061023 semapv:UnspecifiedMatching -orphanet.ordo:79161 Disorder of carbohydrate metabolism oboInOwl:hasDbXref UMLS:C0149670 semapv:UnspecifiedMatching -orphanet.ordo:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref UMLS:C0268641 semapv:UnspecifiedMatching -orphanet.ordo:79167 Disorder of urea cycle metabolism and ammonia detoxification oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref UMLS:C0342762 semapv:UnspecifiedMatching -orphanet.ordo:79181 Disorder of histidine metabolism oboInOwl:hasDbXref UMLS:C0268512 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref MESH:C536664 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref MeSH:C536664 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:214100 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:214110 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614859 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614862 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614866 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614870 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614872 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614876 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614879 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614882 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614883 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614886 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching -orphanet.ordo:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref UMLS:C1832200 semapv:UnspecifiedMatching -orphanet.ordo:79191 Disorder of purine metabolism oboInOwl:hasDbXref MedDRA:10061476 semapv:UnspecifiedMatching -orphanet.ordo:79191 Disorder of purine metabolism oboInOwl:hasDbXref UMLS:C0268104 semapv:UnspecifiedMatching -orphanet.ordo:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref MedDRA:10070969 semapv:UnspecifiedMatching -orphanet.ordo:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref UMLS:C0268127 semapv:UnspecifiedMatching -orphanet.ordo:79196 Disorder of the gamma-glutamyl cycle oboInOwl:hasDbXref UMLS:C0268517 semapv:UnspecifiedMatching -orphanet.ordo:79197 Disorder of branched-chain amino acid metabolism oboInOwl:hasDbXref UMLS:C0342712 semapv:UnspecifiedMatching -orphanet.ordo:792 X-linked retinoschisis oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching -orphanet.ordo:792 X-linked retinoschisis oboInOwl:hasDbXref OMIM:312700 semapv:UnspecifiedMatching -orphanet.ordo:792 X-linked retinoschisis oboInOwl:hasDbXref UMLS:C0271091 semapv:UnspecifiedMatching -orphanet.ordo:79201 Glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:79201 Glycogen storage disease oboInOwl:hasDbXref MESH:D006008 semapv:UnspecifiedMatching -orphanet.ordo:79201 Glycogen storage disease oboInOwl:hasDbXref MeSH:D006008 semapv:UnspecifiedMatching -orphanet.ordo:79201 Glycogen storage disease oboInOwl:hasDbXref MedDRA:10061990 semapv:UnspecifiedMatching -orphanet.ordo:79201 Glycogen storage disease oboInOwl:hasDbXref UMLS:C0017919 semapv:UnspecifiedMatching -orphanet.ordo:79212 Mucolipidosis oboInOwl:hasDbXref MESH:D009081 semapv:UnspecifiedMatching -orphanet.ordo:79212 Mucolipidosis oboInOwl:hasDbXref MeSH:D009081 semapv:UnspecifiedMatching -orphanet.ordo:79212 Mucolipidosis oboInOwl:hasDbXref UMLS:C0026697 semapv:UnspecifiedMatching -orphanet.ordo:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:UnspecifiedMatching -orphanet.ordo:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MeSH:D009083 semapv:UnspecifiedMatching -orphanet.ordo:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MedDRA:10028093 semapv:UnspecifiedMatching -orphanet.ordo:79213 Mucopolysaccharidosis oboInOwl:hasDbXref UMLS:C0026703 semapv:UnspecifiedMatching -orphanet.ordo:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref MESH:D011686 semapv:UnspecifiedMatching -orphanet.ordo:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref MeSH:D011686 semapv:UnspecifiedMatching -orphanet.ordo:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref MedDRA:10037546 semapv:UnspecifiedMatching -orphanet.ordo:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref UMLS:C0034139 semapv:UnspecifiedMatching -orphanet.ordo:79225 Sphingolipidosis oboInOwl:hasDbXref MESH:D013106 semapv:UnspecifiedMatching -orphanet.ordo:79225 Sphingolipidosis oboInOwl:hasDbXref MeSH:D013106 semapv:UnspecifiedMatching -orphanet.ordo:79225 Sphingolipidosis oboInOwl:hasDbXref UMLS:C0037899 semapv:UnspecifiedMatching -orphanet.ordo:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -orphanet.ordo:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref MESH:C537247 semapv:UnspecifiedMatching -orphanet.ordo:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref MeSH:C537247 semapv:UnspecifiedMatching -orphanet.ordo:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref OMIM:602390 semapv:UnspecifiedMatching -orphanet.ordo:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref OMIM:613313 semapv:UnspecifiedMatching -orphanet.ordo:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref UMLS:C0268060 semapv:UnspecifiedMatching -orphanet.ordo:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref OMIM:300323 semapv:UnspecifiedMatching -orphanet.ordo:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref UMLS:C0268117 semapv:UnspecifiedMatching -orphanet.ordo:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching -orphanet.ordo:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref MESH:C536212 semapv:UnspecifiedMatching -orphanet.ordo:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref MeSH:C536212 semapv:UnspecifiedMatching -orphanet.ordo:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref MedDRA:10057034 semapv:UnspecifiedMatching -orphanet.ordo:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching -orphanet.ordo:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref UMLS:C0010324 semapv:UnspecifiedMatching -orphanet.ordo:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching -orphanet.ordo:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MESH:C536213 semapv:UnspecifiedMatching -orphanet.ordo:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MeSH:C536213 semapv:UnspecifiedMatching -orphanet.ordo:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MedDRA:10011387 semapv:UnspecifiedMatching -orphanet.ordo:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref OMIM:606785 semapv:UnspecifiedMatching -orphanet.ordo:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref UMLS:C2931132 semapv:UnspecifiedMatching -orphanet.ordo:79237 Galactokinase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching -orphanet.ordo:79237 Galactokinase deficiency oboInOwl:hasDbXref MESH:C535999 semapv:UnspecifiedMatching -orphanet.ordo:79237 Galactokinase deficiency oboInOwl:hasDbXref MeSH:C535999 semapv:UnspecifiedMatching -orphanet.ordo:79237 Galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching -orphanet.ordo:79237 Galactokinase deficiency oboInOwl:hasDbXref UMLS:C0268155 semapv:UnspecifiedMatching -orphanet.ordo:79238 Galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching -orphanet.ordo:79238 Galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching -orphanet.ordo:79238 Galactose epimerase deficiency oboInOwl:hasDbXref UMLS:C0751161 semapv:UnspecifiedMatching -orphanet.ordo:79239 Classic galactosemia oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching -orphanet.ordo:79239 Classic galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching -orphanet.ordo:79239 Classic galactosemia oboInOwl:hasDbXref UMLS:C0268151 semapv:UnspecifiedMatching -orphanet.ordo:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:261750 semapv:UnspecifiedMatching -orphanet.ordo:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0543514 semapv:UnspecifiedMatching -orphanet.ordo:79241 Biotinidase deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching -orphanet.ordo:79241 Biotinidase deficiency oboInOwl:hasDbXref MESH:D028921 semapv:UnspecifiedMatching -orphanet.ordo:79241 Biotinidase deficiency oboInOwl:hasDbXref MeSH:D028921 semapv:UnspecifiedMatching -orphanet.ordo:79241 Biotinidase deficiency oboInOwl:hasDbXref MedDRA:10071434 semapv:UnspecifiedMatching -orphanet.ordo:79241 Biotinidase deficiency oboInOwl:hasDbXref OMIM:253260 semapv:UnspecifiedMatching -orphanet.ordo:79241 Biotinidase deficiency oboInOwl:hasDbXref UMLS:C0220754 semapv:UnspecifiedMatching -orphanet.ordo:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching -orphanet.ordo:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref MESH:D028922 semapv:UnspecifiedMatching -orphanet.ordo:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref MeSH:D028922 semapv:UnspecifiedMatching -orphanet.ordo:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 semapv:UnspecifiedMatching -orphanet.ordo:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS:C0268581 semapv:UnspecifiedMatching -orphanet.ordo:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching -orphanet.ordo:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref UMLS:C1839413 semapv:UnspecifiedMatching -orphanet.ordo:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching -orphanet.ordo:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref UMLS:C1855565 semapv:UnspecifiedMatching -orphanet.ordo:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching -orphanet.ordo:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref MESH:C536258 semapv:UnspecifiedMatching -orphanet.ordo:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref MeSH:C536258 semapv:UnspecifiedMatching -orphanet.ordo:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching -orphanet.ordo:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref UMLS:C1837429 semapv:UnspecifiedMatching -orphanet.ordo:79253 Mild phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:79254 Classic phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:UnspecifiedMatching -orphanet.ordo:79254 Classic phenylketonuria oboInOwl:hasDbXref MedDRA:10034875 semapv:UnspecifiedMatching -orphanet.ordo:79254 Classic phenylketonuria oboInOwl:hasDbXref UMLS:C0751434 semapv:UnspecifiedMatching -orphanet.ordo:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching -orphanet.ordo:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching -orphanet.ordo:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching -orphanet.ordo:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching -orphanet.ordo:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref UMLS:C0268272 semapv:UnspecifiedMatching -orphanet.ordo:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching -orphanet.ordo:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching -orphanet.ordo:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref UMLS:C0268273 semapv:UnspecifiedMatching -orphanet.ordo:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching -orphanet.ordo:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref UMLS:C0017920 semapv:UnspecifiedMatching -orphanet.ordo:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching -orphanet.ordo:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching -orphanet.ordo:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref UMLS:C0268146 semapv:UnspecifiedMatching -orphanet.ordo:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref UMLS:C0342749 semapv:UnspecifiedMatching -orphanet.ordo:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref UMLS:C0342750 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:C537950 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MeSH:C537950 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:162350 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204300 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching -orphanet.ordo:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022797 semapv:UnspecifiedMatching -orphanet.ordo:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:C537948 semapv:UnspecifiedMatching -orphanet.ordo:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MeSH:C537948 semapv:UnspecifiedMatching -orphanet.ordo:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -orphanet.ordo:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0268281 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10052073 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:609055 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -orphanet.ordo:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0751383 semapv:UnspecifiedMatching -orphanet.ordo:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching -orphanet.ordo:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref UMLS:C0086647 semapv:UnspecifiedMatching -orphanet.ordo:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching -orphanet.ordo:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref UMLS:C0086648 semapv:UnspecifiedMatching -orphanet.ordo:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching -orphanet.ordo:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref UMLS:C0086649 semapv:UnspecifiedMatching -orphanet.ordo:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching -orphanet.ordo:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching -orphanet.ordo:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref UMLS:C0086650 semapv:UnspecifiedMatching -orphanet.ordo:79273 Hereditary coproporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:79273 Hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 semapv:UnspecifiedMatching -orphanet.ordo:79273 Hereditary coproporphyria oboInOwl:hasDbXref MeSH:D046349 semapv:UnspecifiedMatching -orphanet.ordo:79273 Hereditary coproporphyria oboInOwl:hasDbXref MedDRA:10019866 semapv:UnspecifiedMatching -orphanet.ordo:79273 Hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching -orphanet.ordo:79273 Hereditary coproporphyria oboInOwl:hasDbXref UMLS:C0162531 semapv:UnspecifiedMatching -orphanet.ordo:79276 Acute intermittent porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:79276 Acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching -orphanet.ordo:79276 Acute intermittent porphyria oboInOwl:hasDbXref MeSH:D017118 semapv:UnspecifiedMatching -orphanet.ordo:79276 Acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching -orphanet.ordo:79276 Acute intermittent porphyria oboInOwl:hasDbXref UMLS:C0162565 semapv:UnspecifiedMatching -orphanet.ordo:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching -orphanet.ordo:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref OMIM:263700 semapv:UnspecifiedMatching -orphanet.ordo:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching -orphanet.ordo:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MESH:D046351 semapv:UnspecifiedMatching -orphanet.ordo:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MeSH:D046351 semapv:UnspecifiedMatching -orphanet.ordo:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MedDRA:10015289 semapv:UnspecifiedMatching -orphanet.ordo:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 semapv:UnspecifiedMatching -orphanet.ordo:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C0162568 semapv:UnspecifiedMatching -orphanet.ordo:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching -orphanet.ordo:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref UMLS:C1836544 semapv:UnspecifiedMatching -orphanet.ordo:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching -orphanet.ordo:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref UMLS:C1836522 semapv:UnspecifiedMatching -orphanet.ordo:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching -orphanet.ordo:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref UMLS:C1836545 semapv:UnspecifiedMatching -orphanet.ordo:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching -orphanet.ordo:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -orphanet.ordo:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref UMLS:C1848552 semapv:UnspecifiedMatching -orphanet.ordo:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching -orphanet.ordo:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref UMLS:C1848578 semapv:UnspecifiedMatching -orphanet.ordo:79289 Niemann-Pick disease type D oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:79289 Niemann-Pick disease type D oboInOwl:hasDbXref UMLS:C0268247 semapv:UnspecifiedMatching -orphanet.ordo:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:79292 Fish-eye disease oboInOwl:hasDbXref MESH:C538467 semapv:UnspecifiedMatching -orphanet.ordo:79292 Fish-eye disease oboInOwl:hasDbXref MeSH:C538467 semapv:UnspecifiedMatching -orphanet.ordo:79292 Fish-eye disease oboInOwl:hasDbXref OMIM:136120 semapv:UnspecifiedMatching -orphanet.ordo:79292 Fish-eye disease oboInOwl:hasDbXref UMLS:C0342895 semapv:UnspecifiedMatching -orphanet.ordo:79293 Familial LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -orphanet.ordo:79293 Familial LCAT deficiency oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching -orphanet.ordo:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref OMIM:602485 semapv:UnspecifiedMatching -orphanet.ordo:793 SAPHO syndrome oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMatching -orphanet.ordo:793 SAPHO syndrome oboInOwl:hasDbXref MedDRA:10051316 semapv:UnspecifiedMatching -orphanet.ordo:793 SAPHO syndrome oboInOwl:hasDbXref UMLS:C0263859 semapv:UnspecifiedMatching -orphanet.ordo:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching -orphanet.ordo:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref MeSH:C535442 semapv:UnspecifiedMatching -orphanet.ordo:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref OMIM:607765 semapv:UnspecifiedMatching -orphanet.ordo:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref UMLS:C1843116 semapv:UnspecifiedMatching -orphanet.ordo:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching -orphanet.ordo:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref MeSH:C566340 semapv:UnspecifiedMatching -orphanet.ordo:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref OMIM:613812 semapv:UnspecifiedMatching -orphanet.ordo:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref UMLS:C3151147 semapv:UnspecifiedMatching -orphanet.ordo:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref MESH:C535443 semapv:UnspecifiedMatching -orphanet.ordo:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref MeSH:C535443 semapv:UnspecifiedMatching -orphanet.ordo:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref OMIM:235555 semapv:UnspecifiedMatching -orphanet.ordo:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref UMLS:C1856127 semapv:UnspecifiedMatching -orphanet.ordo:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching -orphanet.ordo:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref MeSH:C535934 semapv:UnspecifiedMatching -orphanet.ordo:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching -orphanet.ordo:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref UMLS:C3489789 semapv:UnspecifiedMatching -orphanet.ordo:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching -orphanet.ordo:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref MeSH:C535935 semapv:UnspecifiedMatching -orphanet.ordo:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching -orphanet.ordo:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref UMLS:C1865643 semapv:UnspecifiedMatching -orphanet.ordo:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -orphanet.ordo:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref MESH:C535933 semapv:UnspecifiedMatching -orphanet.ordo:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref MeSH:C535933 semapv:UnspecifiedMatching -orphanet.ordo:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching -orphanet.ordo:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref MESH:C537360 semapv:UnspecifiedMatching -orphanet.ordo:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref MeSH:C537360 semapv:UnspecifiedMatching -orphanet.ordo:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching -orphanet.ordo:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref MESH:C537361 semapv:UnspecifiedMatching -orphanet.ordo:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref MeSH:C537361 semapv:UnspecifiedMatching -orphanet.ordo:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching -orphanet.ordo:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching -orphanet.ordo:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:236792 semapv:UnspecifiedMatching -orphanet.ordo:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C1855995 semapv:UnspecifiedMatching -orphanet.ordo:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:600721 semapv:UnspecifiedMatching -orphanet.ordo:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:613657 semapv:UnspecifiedMatching -orphanet.ordo:79318 PMM2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79318 PMM2-CDG oboInOwl:hasDbXref OMIM:212065 semapv:UnspecifiedMatching -orphanet.ordo:79318 PMM2-CDG oboInOwl:hasDbXref UMLS:C0349653 semapv:UnspecifiedMatching -orphanet.ordo:79319 MPI-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79319 MPI-CDG oboInOwl:hasDbXref OMIM:602579 semapv:UnspecifiedMatching -orphanet.ordo:79319 MPI-CDG oboInOwl:hasDbXref UMLS:C1865145 semapv:UnspecifiedMatching -orphanet.ordo:79320 ALG6-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79320 ALG6-CDG oboInOwl:hasDbXref OMIM:603147 semapv:UnspecifiedMatching -orphanet.ordo:79320 ALG6-CDG oboInOwl:hasDbXref UMLS:C2930997 semapv:UnspecifiedMatching -orphanet.ordo:79321 ALG3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79321 ALG3-CDG oboInOwl:hasDbXref OMIM:601110 semapv:UnspecifiedMatching -orphanet.ordo:79321 ALG3-CDG oboInOwl:hasDbXref UMLS:C1832736 semapv:UnspecifiedMatching -orphanet.ordo:79322 DPM1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79322 DPM1-CDG oboInOwl:hasDbXref OMIM:608799 semapv:UnspecifiedMatching -orphanet.ordo:79322 DPM1-CDG oboInOwl:hasDbXref UMLS:C1837396 semapv:UnspecifiedMatching -orphanet.ordo:79323 MPDU1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79323 MPDU1-CDG oboInOwl:hasDbXref OMIM:609180 semapv:UnspecifiedMatching -orphanet.ordo:79323 MPDU1-CDG oboInOwl:hasDbXref UMLS:C1836669 semapv:UnspecifiedMatching -orphanet.ordo:79324 ALG12-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79324 ALG12-CDG oboInOwl:hasDbXref OMIM:607143 semapv:UnspecifiedMatching -orphanet.ordo:79324 ALG12-CDG oboInOwl:hasDbXref UMLS:C2931001 semapv:UnspecifiedMatching -orphanet.ordo:79325 ALG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79325 ALG8-CDG oboInOwl:hasDbXref OMIM:608104 semapv:UnspecifiedMatching -orphanet.ordo:79325 ALG8-CDG oboInOwl:hasDbXref UMLS:C2931002 semapv:UnspecifiedMatching -orphanet.ordo:79326 ALG2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79326 ALG2-CDG oboInOwl:hasDbXref OMIM:607906 semapv:UnspecifiedMatching -orphanet.ordo:79326 ALG2-CDG oboInOwl:hasDbXref UMLS:C1842836 semapv:UnspecifiedMatching -orphanet.ordo:79327 ALG1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79327 ALG1-CDG oboInOwl:hasDbXref OMIM:608540 semapv:UnspecifiedMatching -orphanet.ordo:79327 ALG1-CDG oboInOwl:hasDbXref UMLS:C2931005 semapv:UnspecifiedMatching -orphanet.ordo:79328 ALG9-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79328 ALG9-CDG oboInOwl:hasDbXref OMIM:263210 semapv:UnspecifiedMatching -orphanet.ordo:79328 ALG9-CDG oboInOwl:hasDbXref OMIM:608776 semapv:UnspecifiedMatching -orphanet.ordo:79328 ALG9-CDG oboInOwl:hasDbXref UMLS:C2931006 semapv:UnspecifiedMatching -orphanet.ordo:79329 MGAT2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79329 MGAT2-CDG oboInOwl:hasDbXref OMIM:212066 semapv:UnspecifiedMatching -orphanet.ordo:79329 MGAT2-CDG oboInOwl:hasDbXref UMLS:C2931008 semapv:UnspecifiedMatching -orphanet.ordo:79330 MOGS-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79330 MOGS-CDG oboInOwl:hasDbXref OMIM:606056 semapv:UnspecifiedMatching -orphanet.ordo:79330 MOGS-CDG oboInOwl:hasDbXref UMLS:C1853736 semapv:UnspecifiedMatching -orphanet.ordo:79332 B4GALT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79332 B4GALT1-CDG oboInOwl:hasDbXref OMIM:607091 semapv:UnspecifiedMatching -orphanet.ordo:79332 B4GALT1-CDG oboInOwl:hasDbXref UMLS:C2931009 semapv:UnspecifiedMatching -orphanet.ordo:79333 COG7-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:79333 COG7-CDG oboInOwl:hasDbXref OMIM:608779 semapv:UnspecifiedMatching -orphanet.ordo:79333 COG7-CDG oboInOwl:hasDbXref UMLS:C2931010 semapv:UnspecifiedMatching -orphanet.ordo:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref MESH:C535941 semapv:UnspecifiedMatching -orphanet.ordo:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref MeSH:C535941 semapv:UnspecifiedMatching -orphanet.ordo:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302950 semapv:UnspecifiedMatching -orphanet.ordo:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:602497 semapv:UnspecifiedMatching -orphanet.ordo:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C1844853 semapv:UnspecifiedMatching -orphanet.ordo:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref OMIM:118651 semapv:UnspecifiedMatching -orphanet.ordo:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref UMLS:C0432224 semapv:UnspecifiedMatching -orphanet.ordo:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching -orphanet.ordo:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:614023 semapv:UnspecifiedMatching -orphanet.ordo:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:601815 semapv:UnspecifiedMatching -orphanet.ordo:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref UMLS:C0580190 semapv:UnspecifiedMatching -orphanet.ordo:79354 Ichthyosis oboInOwl:hasDbXref MESH:D007057 semapv:UnspecifiedMatching -orphanet.ordo:79354 Ichthyosis oboInOwl:hasDbXref MeSH:D007057 semapv:UnspecifiedMatching -orphanet.ordo:79354 Ichthyosis oboInOwl:hasDbXref MedDRA:10021198 semapv:UnspecifiedMatching -orphanet.ordo:79354 Ichthyosis oboInOwl:hasDbXref UMLS:C0020757 semapv:UnspecifiedMatching -orphanet.ordo:79355 Erythrokeratoderma oboInOwl:hasDbXref MedDRA:10015280 semapv:UnspecifiedMatching -orphanet.ordo:79355 Erythrokeratoderma oboInOwl:hasDbXref UMLS:C0432330 semapv:UnspecifiedMatching -orphanet.ordo:79357 Hereditary palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0406757 semapv:UnspecifiedMatching -orphanet.ordo:79358 Porokeratosis oboInOwl:hasDbXref MESH:D017499 semapv:UnspecifiedMatching -orphanet.ordo:79358 Porokeratosis oboInOwl:hasDbXref MeSH:D017499 semapv:UnspecifiedMatching -orphanet.ordo:79358 Porokeratosis oboInOwl:hasDbXref MedDRA:10036175 semapv:UnspecifiedMatching -orphanet.ordo:79358 Porokeratosis oboInOwl:hasDbXref UMLS:C0162839 semapv:UnspecifiedMatching -orphanet.ordo:79361 Inherited epidermolysis bullosa oboInOwl:hasDbXref UMLS:C1274224 semapv:UnspecifiedMatching -orphanet.ordo:79363 Hair anomaly oboInOwl:hasDbXref UMLS:C0265991 semapv:UnspecifiedMatching -orphanet.ordo:79364 Alopecia oboInOwl:hasDbXref UMLS:C0002170 semapv:UnspecifiedMatching -orphanet.ordo:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MESH:D006983 semapv:UnspecifiedMatching -orphanet.ordo:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MeSH:D006983 semapv:UnspecifiedMatching -orphanet.ordo:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MedDRA:10020864 semapv:UnspecifiedMatching -orphanet.ordo:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref UMLS:C0020555 semapv:UnspecifiedMatching -orphanet.ordo:79368 Nail anomaly oboInOwl:hasDbXref MedDRA:10028684 semapv:UnspecifiedMatching -orphanet.ordo:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching -orphanet.ordo:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MeSH:D004476 semapv:UnspecifiedMatching -orphanet.ordo:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MedDRA:10010452 semapv:UnspecifiedMatching -orphanet.ordo:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C0013575 semapv:UnspecifiedMatching -orphanet.ordo:79375 Hyperpigmentation of the skin oboInOwl:hasDbXref UMLS:C0162834 semapv:UnspecifiedMatching -orphanet.ordo:79376 Hypopigmentation of the skin oboInOwl:hasDbXref MedDRA:10040868 semapv:UnspecifiedMatching -orphanet.ordo:79376 Hypopigmentation of the skin oboInOwl:hasDbXref UMLS:C0162835 semapv:UnspecifiedMatching -orphanet.ordo:79379 Skin vascular disease oboInOwl:hasDbXref MESH:D017445 semapv:UnspecifiedMatching -orphanet.ordo:79379 Skin vascular disease oboInOwl:hasDbXref MeSH:D017445 semapv:UnspecifiedMatching -orphanet.ordo:79379 Skin vascular disease oboInOwl:hasDbXref MedDRA:10062171 semapv:UnspecifiedMatching -orphanet.ordo:79379 Skin vascular disease oboInOwl:hasDbXref UMLS:C0162819 semapv:UnspecifiedMatching -orphanet.ordo:79382 Subcutaneous tissue disease oboInOwl:hasDbXref UMLS:C1290008 semapv:UnspecifiedMatching -orphanet.ordo:79384 Rare urticaria oboInOwl:hasDbXref UMLS:C0042109 semapv:UnspecifiedMatching -orphanet.ordo:79389 Premature aging oboInOwl:hasDbXref MESH:D019588 semapv:UnspecifiedMatching -orphanet.ordo:79389 Premature aging oboInOwl:hasDbXref MeSH:D019588 semapv:UnspecifiedMatching -orphanet.ordo:79389 Premature aging oboInOwl:hasDbXref MedDRA:10063493 semapv:UnspecifiedMatching -orphanet.ordo:79389 Premature aging oboInOwl:hasDbXref UMLS:C0231341 semapv:UnspecifiedMatching -orphanet.ordo:79390 Rare photodermatosis oboInOwl:hasDbXref UMLS:C0920193 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615022 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615023 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615024 semapv:UnspecifiedMatching -orphanet.ordo:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C0079154 semapv:UnspecifiedMatching -orphanet.ordo:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref OMIM:604117 semapv:UnspecifiedMatching -orphanet.ordo:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref UMLS:C1858805 semapv:UnspecifiedMatching -orphanet.ordo:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref OMIM:131760 semapv:UnspecifiedMatching -orphanet.ordo:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref OMIM:619555 semapv:UnspecifiedMatching -orphanet.ordo:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref UMLS:C0079295 semapv:UnspecifiedMatching -orphanet.ordo:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MESH:C535959 semapv:UnspecifiedMatching -orphanet.ordo:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MeSH:C535959 semapv:UnspecifiedMatching -orphanet.ordo:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref OMIM:131960 semapv:UnspecifiedMatching -orphanet.ordo:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS:C0432316 semapv:UnspecifiedMatching -orphanet.ordo:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref MESH:C535961 semapv:UnspecifiedMatching -orphanet.ordo:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref MeSH:C535961 semapv:UnspecifiedMatching -orphanet.ordo:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref OMIM:131900 semapv:UnspecifiedMatching -orphanet.ordo:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref UMLS:C0079299 semapv:UnspecifiedMatching -orphanet.ordo:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:101400 semapv:UnspecifiedMatching -orphanet.ordo:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching -orphanet.ordo:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS:C0175699 semapv:UnspecifiedMatching -orphanet.ordo:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:131800 semapv:UnspecifiedMatching -orphanet.ordo:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:619594 semapv:UnspecifiedMatching -orphanet.ordo:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0080333 semapv:UnspecifiedMatching -orphanet.ordo:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref MESH:C535962 semapv:UnspecifiedMatching -orphanet.ordo:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref MeSH:C535962 semapv:UnspecifiedMatching -orphanet.ordo:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref OMIM:131950 semapv:UnspecifiedMatching -orphanet.ordo:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref UMLS:C0432317 semapv:UnspecifiedMatching -orphanet.ordo:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching -orphanet.ordo:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619783 semapv:UnspecifiedMatching -orphanet.ordo:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619785 semapv:UnspecifiedMatching -orphanet.ordo:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619787 semapv:UnspecifiedMatching -orphanet.ordo:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619816 semapv:UnspecifiedMatching -orphanet.ordo:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:226730 semapv:UnspecifiedMatching -orphanet.ordo:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:619817 semapv:UnspecifiedMatching -orphanet.ordo:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref UMLS:C1856934 semapv:UnspecifiedMatching -orphanet.ordo:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.1 semapv:UnspecifiedMatching -orphanet.ordo:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226700 semapv:UnspecifiedMatching -orphanet.ordo:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619786 semapv:UnspecifiedMatching -orphanet.ordo:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079683 semapv:UnspecifiedMatching -orphanet.ordo:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching -orphanet.ordo:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref UMLS:C2673609 semapv:UnspecifiedMatching -orphanet.ordo:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -orphanet.ordo:79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref OMIM:226600 semapv:UnspecifiedMatching -orphanet.ordo:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226600 semapv:UnspecifiedMatching -orphanet.ordo:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref OMIM:131850 semapv:UnspecifiedMatching -orphanet.ordo:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref UMLS:C0432321 semapv:UnspecifiedMatching -orphanet.ordo:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref MESH:C536979 semapv:UnspecifiedMatching -orphanet.ordo:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref MeSH:C536979 semapv:UnspecifiedMatching -orphanet.ordo:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131705 semapv:UnspecifiedMatching -orphanet.ordo:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C1851573 semapv:UnspecifiedMatching -orphanet.ordo:79414 Woolly hair nevus oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching -orphanet.ordo:79414 Woolly hair nevus oboInOwl:hasDbXref OMIM:162900 semapv:UnspecifiedMatching -orphanet.ordo:79414 Woolly hair nevus oboInOwl:hasDbXref UMLS:C0343114 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MedDRA:10071775 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:608233 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614072 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614073 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614074 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614075 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614076 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:617050 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:619172 semapv:UnspecifiedMatching -orphanet.ordo:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS:C0079504 semapv:UnspecifiedMatching -orphanet.ordo:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching -orphanet.ordo:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref MESH:C537730 semapv:UnspecifiedMatching -orphanet.ordo:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref MeSH:C537730 semapv:UnspecifiedMatching -orphanet.ordo:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref OMIM:203200 semapv:UnspecifiedMatching -orphanet.ordo:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref UMLS:C0268495 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MESH:C537189 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MESH:C537731 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MeSH:C537189 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MeSH:C537731 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref OMIM:203290 semapv:UnspecifiedMatching -orphanet.ordo:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref UMLS:C0342683 semapv:UnspecifiedMatching -orphanet.ordo:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref MESH:C537729 semapv:UnspecifiedMatching -orphanet.ordo:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref MeSH:C537729 semapv:UnspecifiedMatching -orphanet.ordo:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching -orphanet.ordo:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref UMLS:C1847024 semapv:UnspecifiedMatching -orphanet.ordo:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref OMIM:606574 semapv:UnspecifiedMatching -orphanet.ordo:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref UMLS:C1847836 semapv:UnspecifiedMatching -orphanet.ordo:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching -orphanet.ordo:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref OMIM:103580 semapv:UnspecifiedMatching -orphanet.ordo:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref UMLS:C3494506 semapv:UnspecifiedMatching -orphanet.ordo:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching -orphanet.ordo:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref MESH:C548076 semapv:UnspecifiedMatching -orphanet.ordo:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref MeSH:C548076 semapv:UnspecifiedMatching -orphanet.ordo:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching -orphanet.ordo:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref UMLS:C2932716 semapv:UnspecifiedMatching -orphanet.ordo:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching -orphanet.ordo:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching -orphanet.ordo:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref MeSH:D011556 semapv:UnspecifiedMatching -orphanet.ordo:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching -orphanet.ordo:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 semapv:UnspecifiedMatching -orphanet.ordo:79446 Multiple pterygium syndrome, Aslan type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -orphanet.ordo:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref OMIM:312150 semapv:UnspecifiedMatching -orphanet.ordo:79450 Non-hereditary congenital primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref OMIM:153100 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref OMIM:247440 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref OMIM:611944 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref OMIM:613480 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref OMIM:615907 semapv:UnspecifiedMatching -orphanet.ordo:79452 Milroy disease oboInOwl:hasDbXref UMLS:C1704423 semapv:UnspecifiedMatching -orphanet.ordo:79455 Cutaneous mastocytoma oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:79455 Cutaneous mastocytoma oboInOwl:hasDbXref MESH:D054705 semapv:UnspecifiedMatching -orphanet.ordo:79455 Cutaneous mastocytoma oboInOwl:hasDbXref MeSH:D054705 semapv:UnspecifiedMatching -orphanet.ordo:79455 Cutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0343115 semapv:UnspecifiedMatching -orphanet.ordo:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10012812 semapv:UnspecifiedMatching -orphanet.ordo:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0024901 semapv:UnspecifiedMatching -orphanet.ordo:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MESH:D014582 semapv:UnspecifiedMatching -orphanet.ordo:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MeSH:D014582 semapv:UnspecifiedMatching -orphanet.ordo:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10046752 semapv:UnspecifiedMatching -orphanet.ordo:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching -orphanet.ordo:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0042111 semapv:UnspecifiedMatching -orphanet.ordo:79458 Oley syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -orphanet.ordo:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref UMLS:C0473574 semapv:UnspecifiedMatching -orphanet.ordo:79467 Verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:79467 Verrucous nevus oboInOwl:hasDbXref UMLS:C0362030 semapv:UnspecifiedMatching -orphanet.ordo:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching -orphanet.ordo:79473 Porphyria variegata oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:79473 Porphyria variegata oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching -orphanet.ordo:79473 Porphyria variegata oboInOwl:hasDbXref UMLS:C0162532 semapv:UnspecifiedMatching -orphanet.ordo:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching -orphanet.ordo:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref MeSH:C537301 semapv:UnspecifiedMatching -orphanet.ordo:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching -orphanet.ordo:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS:C1859194 semapv:UnspecifiedMatching -orphanet.ordo:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref MESH:C537302 semapv:UnspecifiedMatching -orphanet.ordo:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref MeSH:C537302 semapv:UnspecifiedMatching -orphanet.ordo:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching -orphanet.ordo:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref UMLS:C1868679 semapv:UnspecifiedMatching -orphanet.ordo:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref MESH:C537303 semapv:UnspecifiedMatching -orphanet.ordo:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref MeSH:C537303 semapv:UnspecifiedMatching -orphanet.ordo:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching -orphanet.ordo:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS:C1836573 semapv:UnspecifiedMatching -orphanet.ordo:79479 Pemphigus vegetans oboInOwl:hasDbXref ICD10:L10.1 semapv:UnspecifiedMatching -orphanet.ordo:79479 Pemphigus vegetans oboInOwl:hasDbXref MedDRA:10057053 semapv:UnspecifiedMatching -orphanet.ordo:79479 Pemphigus vegetans oboInOwl:hasDbXref UMLS:C0263316 semapv:UnspecifiedMatching -orphanet.ordo:79480 Pemphigus erythematosus oboInOwl:hasDbXref ICD10:L10.4 semapv:UnspecifiedMatching -orphanet.ordo:79480 Pemphigus erythematosus oboInOwl:hasDbXref MedDRA:10058917 semapv:UnspecifiedMatching -orphanet.ordo:79480 Pemphigus erythematosus oboInOwl:hasDbXref UMLS:C0263312 semapv:UnspecifiedMatching -orphanet.ordo:79481 Pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.2 semapv:UnspecifiedMatching -orphanet.ordo:79481 Pemphigus foliaceus oboInOwl:hasDbXref MedDRA:10057069 semapv:UnspecifiedMatching -orphanet.ordo:79481 Pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263313 semapv:UnspecifiedMatching -orphanet.ordo:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:304200 semapv:UnspecifiedMatching -orphanet.ordo:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0795848 semapv:UnspecifiedMatching -orphanet.ordo:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:79485 Phakomatosis spilorosea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:79486 Cystic hygroma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching -orphanet.ordo:79486 Cystic hygroma oboInOwl:hasDbXref UMLS:C0206620 semapv:UnspecifiedMatching -orphanet.ordo:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref UMLS:C0205828 semapv:UnspecifiedMatching -orphanet.ordo:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -orphanet.ordo:79492 Pili gemini oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref MESH:C536611 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref MeSH:C536611 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:132700 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:601606 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:612099 semapv:UnspecifiedMatching -orphanet.ordo:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS:C1857941 semapv:UnspecifiedMatching -orphanet.ordo:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching -orphanet.ordo:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref MESH:C538388 semapv:UnspecifiedMatching -orphanet.ordo:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref MeSH:C538388 semapv:UnspecifiedMatching -orphanet.ordo:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref OMIM:307150 semapv:UnspecifiedMatching -orphanet.ordo:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref UMLS:C2931836 semapv:UnspecifiedMatching -orphanet.ordo:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching -orphanet.ordo:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref UMLS:C2675730 semapv:UnspecifiedMatching -orphanet.ordo:795 Rare form of salmonellosis oboInOwl:hasDbXref MedDRA:10039447 semapv:UnspecifiedMatching -orphanet.ordo:79500 DOORS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:79500 DOORS syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching -orphanet.ordo:79500 DOORS syndrome oboInOwl:hasDbXref UMLS:C0795927 semapv:UnspecifiedMatching -orphanet.ordo:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:148600 semapv:UnspecifiedMatching -orphanet.ordo:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:614936 semapv:UnspecifiedMatching -orphanet.ordo:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref OMIM:175860 semapv:UnspecifiedMatching -orphanet.ordo:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref UMLS:C1867982 semapv:UnspecifiedMatching -orphanet.ordo:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref MESH:C536088 semapv:UnspecifiedMatching -orphanet.ordo:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref MeSH:C536088 semapv:UnspecifiedMatching -orphanet.ordo:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref OMIM:146590 semapv:UnspecifiedMatching -orphanet.ordo:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref UMLS:C1840296 semapv:UnspecifiedMatching -orphanet.ordo:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching -orphanet.ordo:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref MESH:C536087 semapv:UnspecifiedMatching -orphanet.ordo:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref MeSH:C536087 semapv:UnspecifiedMatching -orphanet.ordo:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref OMIM:146600 semapv:UnspecifiedMatching -orphanet.ordo:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref UMLS:C0432311 semapv:UnspecifiedMatching -orphanet.ordo:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ICD10:E78.4 semapv:UnspecifiedMatching -orphanet.ordo:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref OMIM:143470 semapv:UnspecifiedMatching -orphanet.ordo:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref UMLS:C0342883 semapv:UnspecifiedMatching -orphanet.ordo:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref OMIM:614037 semapv:UnspecifiedMatching -orphanet.ordo:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3279662 semapv:UnspecifiedMatching -orphanet.ordo:796 Sandhoff disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:796 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching -orphanet.ordo:796 Sandhoff disease oboInOwl:hasDbXref MeSH:D012497 semapv:UnspecifiedMatching -orphanet.ordo:796 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching -orphanet.ordo:796 Sandhoff disease oboInOwl:hasDbXref UMLS:C0036161 semapv:UnspecifiedMatching -orphanet.ordo:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching -orphanet.ordo:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching -orphanet.ordo:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching -orphanet.ordo:79651 Mild hyperphenylalaninemia oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching -orphanet.ordo:79665 Gardner syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:79665 Gardner syndrome oboInOwl:hasDbXref MESH:D005736 semapv:UnspecifiedMatching -orphanet.ordo:79665 Gardner syndrome oboInOwl:hasDbXref MeSH:D005736 semapv:UnspecifiedMatching -orphanet.ordo:79665 Gardner syndrome oboInOwl:hasDbXref MedDRA:10017727 semapv:UnspecifiedMatching -orphanet.ordo:79665 Gardner syndrome oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching -orphanet.ordo:79665 Gardner syndrome oboInOwl:hasDbXref UMLS:C0017097 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.0 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.1 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.2 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.3 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.8 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.9 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref MESH:D012507 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref MeSH:D012507 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref MedDRA:10039486 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref OMIM:181000 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref OMIM:612387 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref OMIM:612388 semapv:UnspecifiedMatching -orphanet.ordo:797 Sarcoidosis oboInOwl:hasDbXref UMLS:C0036202 semapv:UnspecifiedMatching -orphanet.ordo:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref MedDRA:10063540 semapv:UnspecifiedMatching -orphanet.ordo:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref OMIM:269150 semapv:UnspecifiedMatching -orphanet.ordo:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref UMLS:C0265227 semapv:UnspecifiedMatching -orphanet.ordo:799 Schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching -orphanet.ordo:799 Schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMatching -orphanet.ordo:799 Schizencephaly oboInOwl:hasDbXref UMLS:C0266484 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref ICD10:Q98.5 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref MESH:C535317 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref MESH:D014997 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref MeSH:C535317 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref MeSH:D014997 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref MedDRA:10056894 semapv:UnspecifiedMatching -orphanet.ordo:8 47,XYY syndrome oboInOwl:hasDbXref UMLS:C3266843 semapv:UnspecifiedMatching -orphanet.ordo:80 Antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching -orphanet.ordo:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref OMIM:255800 semapv:UnspecifiedMatching -orphanet.ordo:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref UMLS:C0036391 semapv:UnspecifiedMatching -orphanet.ordo:801 Scleroderma oboInOwl:hasDbXref MedDRA:10039710 semapv:UnspecifiedMatching -orphanet.ordo:801 Scleroderma oboInOwl:hasDbXref UMLS:C0852007 semapv:UnspecifiedMatching -orphanet.ordo:802 NON RARE IN EUROPE: Multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MeSH:D000690 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MedDRA:10002026 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:105400 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205250 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:300857 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:606070 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:606640 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608030 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608031 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608627 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:611895 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:612069 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:612577 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:613435 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614808 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:615426 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:615515 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:616208 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617839 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617892 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619141 semapv:UnspecifiedMatching -orphanet.ordo:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C0002736 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref ICD10:Q85.1 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref MESH:D014402 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref MeSH:D014402 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref MedDRA:10045138 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref OMIM:191100 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref OMIM:613254 semapv:UnspecifiedMatching -orphanet.ordo:805 Tuberous sclerosis complex oboInOwl:hasDbXref UMLS:C0041341 semapv:UnspecifiedMatching -orphanet.ordo:806 Scott syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:806 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching -orphanet.ordo:806 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 semapv:UnspecifiedMatching -orphanet.ordo:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:807 Sebastian syndrome oboInOwl:hasDbXref MESH:C537531 semapv:UnspecifiedMatching -orphanet.ordo:807 Sebastian syndrome oboInOwl:hasDbXref MeSH:C537531 semapv:UnspecifiedMatching -orphanet.ordo:807 Sebastian syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching -orphanet.ordo:807 Sebastian syndrome oboInOwl:hasDbXref UMLS:C1854520 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref MESH:C537533 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref MeSH:C537533 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:210600 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:606744 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:613676 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:613823 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:614728 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:614851 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:615807 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:616777 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref OMIM:617523 semapv:UnspecifiedMatching -orphanet.ordo:808 Seckel syndrome oboInOwl:hasDbXref UMLS:C0265202 semapv:UnspecifiedMatching -orphanet.ordo:809 Mixed connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching -orphanet.ordo:809 Mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 semapv:UnspecifiedMatching -orphanet.ordo:809 Mixed connective tissue disease oboInOwl:hasDbXref MeSH:D008947 semapv:UnspecifiedMatching -orphanet.ordo:809 Mixed connective tissue disease oboInOwl:hasDbXref MedDRA:10027754 semapv:UnspecifiedMatching -orphanet.ordo:809 Mixed connective tissue disease oboInOwl:hasDbXref UMLS:C0026272 semapv:UnspecifiedMatching -orphanet.ordo:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:81 Antisynthetase syndrome oboInOwl:hasDbXref MESH:C537778 semapv:UnspecifiedMatching -orphanet.ordo:81 Antisynthetase syndrome oboInOwl:hasDbXref MeSH:C537778 semapv:UnspecifiedMatching -orphanet.ordo:81 Antisynthetase syndrome oboInOwl:hasDbXref MedDRA:10068801 semapv:UnspecifiedMatching -orphanet.ordo:81 Antisynthetase syndrome oboInOwl:hasDbXref UMLS:C2609059 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.0 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.1 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.2 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.3 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.8 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.9 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref MedDRA:10017915 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref MedDRA:10054178 semapv:UnspecifiedMatching -orphanet.ordo:810 Shigellosis oboInOwl:hasDbXref UMLS:C0013371 semapv:UnspecifiedMatching -orphanet.ordo:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref MedDRA:10067940 semapv:UnspecifiedMatching -orphanet.ordo:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 semapv:UnspecifiedMatching -orphanet.ordo:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:617941 semapv:UnspecifiedMatching -orphanet.ordo:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref UMLS:C0272170 semapv:UnspecifiedMatching -orphanet.ordo:812 Sialidosis type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:812 Sialidosis type 1 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching -orphanet.ordo:812 Sialidosis type 1 oboInOwl:hasDbXref UMLS:C0023806 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref MeSH:D056730 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref MedDRA:10062282 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:312780 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:616489 semapv:UnspecifiedMatching -orphanet.ordo:813 Silver-Russell syndrome oboInOwl:hasDbXref UMLS:C0175693 semapv:UnspecifiedMatching -orphanet.ordo:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 semapv:UnspecifiedMatching -orphanet.ordo:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MeSH:D016111 semapv:UnspecifiedMatching -orphanet.ordo:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MedDRA:10048676 semapv:UnspecifiedMatching -orphanet.ordo:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 semapv:UnspecifiedMatching -orphanet.ordo:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref UMLS:C0037231 semapv:UnspecifiedMatching -orphanet.ordo:817 Peeling skin syndrome oboInOwl:hasDbXref UMLS:C1849193 semapv:UnspecifiedMatching -orphanet.ordo:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MESH:D019082 semapv:UnspecifiedMatching -orphanet.ordo:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MeSH:D019082 semapv:UnspecifiedMatching -orphanet.ordo:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref OMIM:270400 semapv:UnspecifiedMatching -orphanet.ordo:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS:C0175694 semapv:UnspecifiedMatching -orphanet.ordo:819 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:819 Smith-Magenis syndrome oboInOwl:hasDbXref MESH:D058496 semapv:UnspecifiedMatching -orphanet.ordo:819 Smith-Magenis syndrome oboInOwl:hasDbXref MeSH:D058496 semapv:UnspecifiedMatching -orphanet.ordo:819 Smith-Magenis syndrome oboInOwl:hasDbXref OMIM:182290 semapv:UnspecifiedMatching -orphanet.ordo:819 Smith-Magenis syndrome oboInOwl:hasDbXref UMLS:C0795864 semapv:UnspecifiedMatching -orphanet.ordo:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching -orphanet.ordo:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref OMIM:613118 semapv:UnspecifiedMatching -orphanet.ordo:820 Sneddon syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching -orphanet.ordo:820 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 semapv:UnspecifiedMatching -orphanet.ordo:820 Sneddon syndrome oboInOwl:hasDbXref MeSH:D018860 semapv:UnspecifiedMatching -orphanet.ordo:820 Sneddon syndrome oboInOwl:hasDbXref MedDRA:10053841 semapv:UnspecifiedMatching -orphanet.ordo:820 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching -orphanet.ordo:820 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 semapv:UnspecifiedMatching -orphanet.ordo:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref UMLS:C1845235 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref MeSH:D058495 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref MedDRA:10064387 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref OMIM:117550 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref OMIM:617169 semapv:UnspecifiedMatching -orphanet.ordo:821 Sotos syndrome oboInOwl:hasDbXref UMLS:C0175695 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref ICD10:D58.0 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref MESH:C536356 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref MESH:D013103 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref MeSH:C536356 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref MeSH:D013103 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref MedDRA:10019904 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:182900 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:270970 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612653 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612690 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:616649 semapv:UnspecifiedMatching -orphanet.ordo:822 Hereditary spherocytosis oboInOwl:hasDbXref UMLS:C0037889 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MESH:D016135 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MeSH:D016135 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MedDRA:10041524 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:182940 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching -orphanet.ordo:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref UMLS:C0080178 semapv:UnspecifiedMatching -orphanet.ordo:824 Primary myelofibrosis oboInOwl:hasDbXref ICD10:D47.4 semapv:UnspecifiedMatching -orphanet.ordo:824 Primary myelofibrosis oboInOwl:hasDbXref OMIM:254450 semapv:UnspecifiedMatching -orphanet.ordo:824 Primary myelofibrosis oboInOwl:hasDbXref UMLS:C0001815 semapv:UnspecifiedMatching -orphanet.ordo:825 NON RARE IN EUROPE: Ankylosing spondylitis oboInOwl:hasDbXref ICD10:M45 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.0 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.1 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.7 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.8 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.9 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref MESH:D013174 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref MeSH:D013174 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref MedDRA:10041736 semapv:UnspecifiedMatching -orphanet.ordo:826 Sporotrichosis oboInOwl:hasDbXref UMLS:C0038034 semapv:UnspecifiedMatching -orphanet.ordo:827 Stargardt disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:827 Stargardt disease oboInOwl:hasDbXref MedDRA:10062766 semapv:UnspecifiedMatching -orphanet.ordo:827 Stargardt disease oboInOwl:hasDbXref OMIM:248200 semapv:UnspecifiedMatching -orphanet.ordo:827 Stargardt disease oboInOwl:hasDbXref OMIM:600110 semapv:UnspecifiedMatching -orphanet.ordo:827 Stargardt disease oboInOwl:hasDbXref OMIM:603786 semapv:UnspecifiedMatching -orphanet.ordo:827 Stargardt disease oboInOwl:hasDbXref UMLS:C0271093 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref MedDRA:10063402 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614134 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614284 semapv:UnspecifiedMatching -orphanet.ordo:828 Stickler syndrome oboInOwl:hasDbXref UMLS:C0265253 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref ICD10:M06.1 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref MESH:D014924 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref MESH:D016706 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref MeSH:D014924 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref MeSH:D016706 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref MedDRA:10058493 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref MedDRA:10064056 semapv:UnspecifiedMatching -orphanet.ordo:829 Adult-onset Still disease oboInOwl:hasDbXref UMLS:C0085253 semapv:UnspecifiedMatching -orphanet.ordo:83 Antley-Bixler syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:83 Antley-Bixler syndrome oboInOwl:hasDbXref MESH:C537780 semapv:UnspecifiedMatching -orphanet.ordo:83 Antley-Bixler syndrome oboInOwl:hasDbXref MeSH:C537780 semapv:UnspecifiedMatching -orphanet.ordo:83 Antley-Bixler syndrome oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching -orphanet.ordo:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -orphanet.ordo:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching -orphanet.ordo:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref OMIM:245050 semapv:UnspecifiedMatching -orphanet.ordo:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref UMLS:C0342792 semapv:UnspecifiedMatching -orphanet.ordo:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching -orphanet.ordo:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching -orphanet.ordo:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching -orphanet.ordo:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching -orphanet.ordo:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref ICD10:A77.0 semapv:UnspecifiedMatching -orphanet.ordo:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MESH:D012373 semapv:UnspecifiedMatching -orphanet.ordo:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MeSH:D012373 semapv:UnspecifiedMatching -orphanet.ordo:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MedDRA:10039207 semapv:UnspecifiedMatching -orphanet.ordo:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref UMLS:C0035793 semapv:UnspecifiedMatching -orphanet.ordo:83312 Rickettsialpox oboInOwl:hasDbXref ICD10:A79.1 semapv:UnspecifiedMatching -orphanet.ordo:83312 Rickettsialpox oboInOwl:hasDbXref MedDRA:10039137 semapv:UnspecifiedMatching -orphanet.ordo:83312 Rickettsialpox oboInOwl:hasDbXref UMLS:C0035597 semapv:UnspecifiedMatching -orphanet.ordo:83313 Boutonneuse fever oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching -orphanet.ordo:83313 Boutonneuse fever oboInOwl:hasDbXref MESH:D001907 semapv:UnspecifiedMatching -orphanet.ordo:83313 Boutonneuse fever oboInOwl:hasDbXref MeSH:D001907 semapv:UnspecifiedMatching -orphanet.ordo:83313 Boutonneuse fever oboInOwl:hasDbXref MedDRA:10006045 semapv:UnspecifiedMatching -orphanet.ordo:83313 Boutonneuse fever oboInOwl:hasDbXref UMLS:C0006060 semapv:UnspecifiedMatching -orphanet.ordo:83314 Epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching -orphanet.ordo:83314 Epidemic typhus oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching -orphanet.ordo:83314 Epidemic typhus oboInOwl:hasDbXref MeSH:D014438 semapv:UnspecifiedMatching -orphanet.ordo:83314 Epidemic typhus oboInOwl:hasDbXref MedDRA:10014979 semapv:UnspecifiedMatching -orphanet.ordo:83314 Epidemic typhus oboInOwl:hasDbXref UMLS:C0041473 semapv:UnspecifiedMatching -orphanet.ordo:83315 Murine typhus oboInOwl:hasDbXref ICD10:A75.2 semapv:UnspecifiedMatching -orphanet.ordo:83315 Murine typhus oboInOwl:hasDbXref MedDRA:10028282 semapv:UnspecifiedMatching -orphanet.ordo:83316 Pseudotyphus of California oboInOwl:hasDbXref ICD10:A79.8 semapv:UnspecifiedMatching -orphanet.ordo:83317 Scrub typhus oboInOwl:hasDbXref ICD10:A75.3 semapv:UnspecifiedMatching -orphanet.ordo:83317 Scrub typhus oboInOwl:hasDbXref MESH:D012612 semapv:UnspecifiedMatching -orphanet.ordo:83317 Scrub typhus oboInOwl:hasDbXref MeSH:D012612 semapv:UnspecifiedMatching -orphanet.ordo:83317 Scrub typhus oboInOwl:hasDbXref MedDRA:10039766 semapv:UnspecifiedMatching -orphanet.ordo:83317 Scrub typhus oboInOwl:hasDbXref UMLS:C0036472 semapv:UnspecifiedMatching -orphanet.ordo:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching -orphanet.ordo:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching -orphanet.ordo:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref UMLS:C0043116 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref MESH:C538523 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref MeSH:C538523 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067529 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067531 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching -orphanet.ordo:834 Free sialic acid storage disease oboInOwl:hasDbXref UMLS:C2931872 semapv:UnspecifiedMatching -orphanet.ordo:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching -orphanet.ordo:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref UMLS:C0393538 semapv:UnspecifiedMatching -orphanet.ordo:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching -orphanet.ordo:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C0152109 semapv:UnspecifiedMatching -orphanet.ordo:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching -orphanet.ordo:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS:C1838230 semapv:UnspecifiedMatching -orphanet.ordo:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching -orphanet.ordo:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching -orphanet.ordo:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching -orphanet.ordo:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching -orphanet.ordo:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref MESH:C537063 semapv:UnspecifiedMatching -orphanet.ordo:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref MeSH:C537063 semapv:UnspecifiedMatching -orphanet.ordo:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref UMLS:C0555197 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref MESH:D020918 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref MeSH:D020918 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref MedDRA:10064332 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching -orphanet.ordo:83452 Complex regional pain syndrome oboInOwl:hasDbXref UMLS:C0458219 semapv:UnspecifiedMatching -orphanet.ordo:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -orphanet.ordo:83454 Glomuvenous malformation oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching -orphanet.ordo:83454 Glomuvenous malformation oboInOwl:hasDbXref MESH:C536827 semapv:UnspecifiedMatching -orphanet.ordo:83454 Glomuvenous malformation oboInOwl:hasDbXref MeSH:C536827 semapv:UnspecifiedMatching -orphanet.ordo:83454 Glomuvenous malformation oboInOwl:hasDbXref MedDRA:10018381 semapv:UnspecifiedMatching -orphanet.ordo:83454 Glomuvenous malformation oboInOwl:hasDbXref OMIM:138000 semapv:UnspecifiedMatching -orphanet.ordo:83454 Glomuvenous malformation oboInOwl:hasDbXref UMLS:C1841984 semapv:UnspecifiedMatching -orphanet.ordo:83461 Congenital primary aphakia oboInOwl:hasDbXref ICD10:Q12.3 semapv:UnspecifiedMatching -orphanet.ordo:83461 Congenital primary aphakia oboInOwl:hasDbXref MESH:C537786 semapv:UnspecifiedMatching -orphanet.ordo:83461 Congenital primary aphakia oboInOwl:hasDbXref MeSH:C537786 semapv:UnspecifiedMatching -orphanet.ordo:83461 Congenital primary aphakia oboInOwl:hasDbXref MedDRA:10002947 semapv:UnspecifiedMatching -orphanet.ordo:83461 Congenital primary aphakia oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching -orphanet.ordo:83461 Congenital primary aphakia oboInOwl:hasDbXref UMLS:C1853230 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref ICD10:Q17.2 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref MESH:C537772 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref MeSH:C537772 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref MedDRA:10027555 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref OMIM:128800 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref OMIM:600674 semapv:UnspecifiedMatching -orphanet.ordo:83463 Microtia oboInOwl:hasDbXref UMLS:C0152423 semapv:UnspecifiedMatching -orphanet.ordo:83465 Narcolepsy type 2 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching -orphanet.ordo:83467 Morvan syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:83467 Morvan syndrome oboInOwl:hasDbXref UMLS:C3854373 semapv:UnspecifiedMatching -orphanet.ordo:83468 Solitary bone cyst oboInOwl:hasDbXref ICD10:M85.4 semapv:UnspecifiedMatching -orphanet.ordo:83468 Solitary bone cyst oboInOwl:hasDbXref UMLS:C0005937 semapv:UnspecifiedMatching -orphanet.ordo:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching -orphanet.ordo:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MESH:D058405 semapv:UnspecifiedMatching -orphanet.ordo:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MeSH:D058405 semapv:UnspecifiedMatching -orphanet.ordo:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MedDRA:10064581 semapv:UnspecifiedMatching -orphanet.ordo:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref UMLS:C0281508 semapv:UnspecifiedMatching -orphanet.ordo:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref ICD10:D81.4 semapv:UnspecifiedMatching -orphanet.ordo:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref OMIM:242700 semapv:UnspecifiedMatching -orphanet.ordo:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref UMLS:C0152094 semapv:UnspecifiedMatching -orphanet.ordo:83472 CAMOS syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:83472 CAMOS syndrome oboInOwl:hasDbXref OMIM:606937 semapv:UnspecifiedMatching -orphanet.ordo:83472 CAMOS syndrome oboInOwl:hasDbXref UMLS:C1847114 semapv:UnspecifiedMatching -orphanet.ordo:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:603387 semapv:UnspecifiedMatching -orphanet.ordo:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:615937 semapv:UnspecifiedMatching -orphanet.ordo:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:615938 semapv:UnspecifiedMatching -orphanet.ordo:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C1863924 semapv:UnspecifiedMatching -orphanet.ordo:83476 West-Nile encephalitis oboInOwl:hasDbXref ICD10:A92.3 semapv:UnspecifiedMatching -orphanet.ordo:83476 West-Nile encephalitis oboInOwl:hasDbXref OMIM:610379 semapv:UnspecifiedMatching -orphanet.ordo:83476 West-Nile encephalitis oboInOwl:hasDbXref UMLS:C0751583 semapv:UnspecifiedMatching -orphanet.ordo:83482 Mycoplasma encephalitis oboInOwl:hasDbXref ICD10:B96.0 semapv:UnspecifiedMatching -orphanet.ordo:83483 La Crosse encephalitis oboInOwl:hasDbXref ICD10:A83.5 semapv:UnspecifiedMatching -orphanet.ordo:83483 La Crosse encephalitis oboInOwl:hasDbXref MESH:D004670 semapv:UnspecifiedMatching -orphanet.ordo:83483 La Crosse encephalitis oboInOwl:hasDbXref MeSH:D004670 semapv:UnspecifiedMatching -orphanet.ordo:83483 La Crosse encephalitis oboInOwl:hasDbXref MedDRA:10014584 semapv:UnspecifiedMatching -orphanet.ordo:83483 La Crosse encephalitis oboInOwl:hasDbXref UMLS:C0014053 semapv:UnspecifiedMatching -orphanet.ordo:83484 St. Louis encephalitis oboInOwl:hasDbXref ICD10:A83.3 semapv:UnspecifiedMatching -orphanet.ordo:83484 St. Louis encephalitis oboInOwl:hasDbXref MESH:D004674 semapv:UnspecifiedMatching -orphanet.ordo:83484 St. Louis encephalitis oboInOwl:hasDbXref MeSH:D004674 semapv:UnspecifiedMatching -orphanet.ordo:83484 St. Louis encephalitis oboInOwl:hasDbXref MedDRA:10041896 semapv:UnspecifiedMatching -orphanet.ordo:83484 St. Louis encephalitis oboInOwl:hasDbXref UMLS:C0014060 semapv:UnspecifiedMatching -orphanet.ordo:83593 Western equine encephalitis oboInOwl:hasDbXref ICD10:A83.1 semapv:UnspecifiedMatching -orphanet.ordo:83593 Western equine encephalitis oboInOwl:hasDbXref MedDRA:10014614 semapv:UnspecifiedMatching -orphanet.ordo:83593 Western equine encephalitis oboInOwl:hasDbXref UMLS:C0153064 semapv:UnspecifiedMatching -orphanet.ordo:83594 Eastern equine encephalitis oboInOwl:hasDbXref ICD10:A83.2 semapv:UnspecifiedMatching -orphanet.ordo:83594 Eastern equine encephalitis oboInOwl:hasDbXref MedDRA:10014587 semapv:UnspecifiedMatching -orphanet.ordo:83594 Eastern equine encephalitis oboInOwl:hasDbXref UMLS:C0153065 semapv:UnspecifiedMatching -orphanet.ordo:83595 Colorado tick fever oboInOwl:hasDbXref ICD10:A93.2 semapv:UnspecifiedMatching -orphanet.ordo:83595 Colorado tick fever oboInOwl:hasDbXref MESH:D003121 semapv:UnspecifiedMatching -orphanet.ordo:83595 Colorado tick fever oboInOwl:hasDbXref MeSH:D003121 semapv:UnspecifiedMatching -orphanet.ordo:83595 Colorado tick fever oboInOwl:hasDbXref MedDRA:10010022 semapv:UnspecifiedMatching -orphanet.ordo:83595 Colorado tick fever oboInOwl:hasDbXref UMLS:C0009400 semapv:UnspecifiedMatching -orphanet.ordo:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching -orphanet.ordo:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS:C0014059 semapv:UnspecifiedMatching -orphanet.ordo:83600 Encephalitis lethargica oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching -orphanet.ordo:83600 Encephalitis lethargica oboInOwl:hasDbXref MedDRA:10052369 semapv:UnspecifiedMatching -orphanet.ordo:83600 Encephalitis lethargica oboInOwl:hasDbXref UMLS:C0014040 semapv:UnspecifiedMatching -orphanet.ordo:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching -orphanet.ordo:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref UMLS:C0393639 semapv:UnspecifiedMatching -orphanet.ordo:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:B06.0+ semapv:UnspecifiedMatching -orphanet.ordo:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching -orphanet.ordo:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref OMIM:610483 semapv:UnspecifiedMatching -orphanet.ordo:83618 Severe dilated cardiomyopathy due to lamin A/C mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -orphanet.ordo:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:83620 Enteric anendocrinosis oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching -orphanet.ordo:83620 Enteric anendocrinosis oboInOwl:hasDbXref OMIM:610370 semapv:UnspecifiedMatching -orphanet.ordo:83628 LUMBAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching -orphanet.ordo:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:300232 semapv:UnspecifiedMatching -orphanet.ordo:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1970840 semapv:UnspecifiedMatching -orphanet.ordo:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref OMIM:610293 semapv:UnspecifiedMatching -orphanet.ordo:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref UMLS:C1853205 semapv:UnspecifiedMatching -orphanet.ordo:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching -orphanet.ordo:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref OMIM:206100 semapv:UnspecifiedMatching -orphanet.ordo:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref UMLS:C2673913 semapv:UnspecifiedMatching -orphanet.ordo:838 Susac syndrome oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching -orphanet.ordo:838 Susac syndrome oboInOwl:hasDbXref MESH:D055955 semapv:UnspecifiedMatching -orphanet.ordo:838 Susac syndrome oboInOwl:hasDbXref MeSH:D055955 semapv:UnspecifiedMatching -orphanet.ordo:838 Susac syndrome oboInOwl:hasDbXref MedDRA:10071573 semapv:UnspecifiedMatching -orphanet.ordo:838 Susac syndrome oboInOwl:hasDbXref UMLS:C2717757 semapv:UnspecifiedMatching -orphanet.ordo:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MESH:C535761 semapv:UnspecifiedMatching -orphanet.ordo:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MeSH:C535761 semapv:UnspecifiedMatching -orphanet.ordo:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MedDRA:10060740 semapv:UnspecifiedMatching -orphanet.ordo:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref OMIM:256300 semapv:UnspecifiedMatching -orphanet.ordo:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref UMLS:C0403399 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref MESH:D005199 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref MeSH:D005199 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref MedDRA:10055206 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:227645 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:227646 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:227650 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:300514 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:600901 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:603467 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:609053 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:609054 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:610832 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:613390 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:613951 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:614082 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:614083 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:615272 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:616435 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617243 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617244 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617247 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617883 semapv:UnspecifiedMatching -orphanet.ordo:84 Fanconi anemia oboInOwl:hasDbXref UMLS:C0015625 semapv:UnspecifiedMatching -orphanet.ordo:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -orphanet.ordo:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref MedDRA:10042926 semapv:UnspecifiedMatching -orphanet.ordo:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref UMLS:C0406803 semapv:UnspecifiedMatching -orphanet.ordo:84064 Syndromic diarrhea oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching -orphanet.ordo:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:222470 semapv:UnspecifiedMatching -orphanet.ordo:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:614602 semapv:UnspecifiedMatching -orphanet.ordo:84064 Syndromic diarrhea oboInOwl:hasDbXref UMLS:C1857276 semapv:UnspecifiedMatching -orphanet.ordo:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -orphanet.ordo:84081 Senior-Boichis syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching -orphanet.ordo:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:613550 semapv:UnspecifiedMatching -orphanet.ordo:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:616217 semapv:UnspecifiedMatching -orphanet.ordo:84085 Hinman syndrome oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching -orphanet.ordo:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching -orphanet.ordo:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching -orphanet.ordo:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:137950 semapv:UnspecifiedMatching -orphanet.ordo:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:601894 semapv:UnspecifiedMatching -orphanet.ordo:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref UMLS:C3888104 semapv:UnspecifiedMatching -orphanet.ordo:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref OMIM:602107 semapv:UnspecifiedMatching -orphanet.ordo:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref UMLS:C1865856 semapv:UnspecifiedMatching -orphanet.ordo:841 Sebocystomatosis oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching -orphanet.ordo:841 Sebocystomatosis oboInOwl:hasDbXref OMIM:184500 semapv:UnspecifiedMatching -orphanet.ordo:841 Sebocystomatosis oboInOwl:hasDbXref UMLS:C0259771 semapv:UnspecifiedMatching -orphanet.ordo:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching -orphanet.ordo:84142 Isaacs syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:84142 Isaacs syndrome oboInOwl:hasDbXref UMLS:C0242287 semapv:UnspecifiedMatching -orphanet.ordo:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching -orphanet.ordo:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -orphanet.ordo:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C0036631 semapv:UnspecifiedMatching -orphanet.ordo:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1  semapv:UnspecifiedMatching -orphanet.ordo:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3  semapv:UnspecifiedMatching -orphanet.ordo:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -orphanet.ordo:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching -orphanet.ordo:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MedDRA:10024984 semapv:UnspecifiedMatching -orphanet.ordo:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 semapv:UnspecifiedMatching -orphanet.ordo:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C0024054 semapv:UnspecifiedMatching -orphanet.ordo:845 Tay-Sachs disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching -orphanet.ordo:845 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 semapv:UnspecifiedMatching -orphanet.ordo:845 Tay-Sachs disease oboInOwl:hasDbXref MeSH:D013661 semapv:UnspecifiedMatching -orphanet.ordo:845 Tay-Sachs disease oboInOwl:hasDbXref MedDRA:10043147 semapv:UnspecifiedMatching -orphanet.ordo:845 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching -orphanet.ordo:845 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C0039373 semapv:UnspecifiedMatching -orphanet.ordo:846 Alpha-thalassemia oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:846 Alpha-thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching -orphanet.ordo:846 Alpha-thalassemia oboInOwl:hasDbXref MeSH:D017085 semapv:UnspecifiedMatching -orphanet.ordo:846 Alpha-thalassemia oboInOwl:hasDbXref MedDRA:10043390 semapv:UnspecifiedMatching -orphanet.ordo:846 Alpha-thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching -orphanet.ordo:846 Alpha-thalassemia oboInOwl:hasDbXref UMLS:C0002312 semapv:UnspecifiedMatching -orphanet.ordo:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching -orphanet.ordo:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching -orphanet.ordo:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1845055 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref MeSH:D017086 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref MedDRA:10043391 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching -orphanet.ordo:848 Beta-thalassemia oboInOwl:hasDbXref UMLS:C0005283 semapv:UnspecifiedMatching -orphanet.ordo:849 Glanzmann thrombasthenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -orphanet.ordo:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:273800 semapv:UnspecifiedMatching -orphanet.ordo:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:619267 semapv:UnspecifiedMatching -orphanet.ordo:849 Glanzmann thrombasthenia oboInOwl:hasDbXref UMLS:C0040015 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref MeSH:D000742 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:619789 semapv:UnspecifiedMatching -orphanet.ordo:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C0002876 semapv:UnspecifiedMatching -orphanet.ordo:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching -orphanet.ordo:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching -orphanet.ordo:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref MESH:C538617 semapv:UnspecifiedMatching -orphanet.ordo:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref MeSH:C538617 semapv:UnspecifiedMatching -orphanet.ordo:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:188025 semapv:UnspecifiedMatching -orphanet.ordo:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:617443 semapv:UnspecifiedMatching -orphanet.ordo:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref UMLS:C1956093 semapv:UnspecifiedMatching -orphanet.ordo:85102 Perineurioma oboInOwl:hasDbXref UMLS:C0751691 semapv:UnspecifiedMatching -orphanet.ordo:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref MESH:C536841 semapv:UnspecifiedMatching -orphanet.ordo:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref MeSH:C536841 semapv:UnspecifiedMatching -orphanet.ordo:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 semapv:UnspecifiedMatching -orphanet.ordo:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C1858680 semapv:UnspecifiedMatching -orphanet.ordo:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching -orphanet.ordo:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref OMIM:610644 semapv:UnspecifiedMatching -orphanet.ordo:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref OMIM:607475 semapv:UnspecifiedMatching -orphanet.ordo:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref UMLS:C1843816 semapv:UnspecifiedMatching -orphanet.ordo:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref MESH:C567845 semapv:UnspecifiedMatching -orphanet.ordo:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref MeSH:C567845 semapv:UnspecifiedMatching -orphanet.ordo:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref OMIM:612951 semapv:UnspecifiedMatching -orphanet.ordo:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref UMLS:C2751843 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref MESH:D000224 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref MeSH:D000224 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref MedDRA:10001130 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref OMIM:103230 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref OMIM:240200 semapv:UnspecifiedMatching -orphanet.ordo:85138 Addison disease oboInOwl:hasDbXref UMLS:C0001403 semapv:UnspecifiedMatching -orphanet.ordo:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -orphanet.ordo:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching -orphanet.ordo:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref OMIM:181400 semapv:UnspecifiedMatching -orphanet.ordo:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref UMLS:C1867005 semapv:UnspecifiedMatching -orphanet.ordo:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching -orphanet.ordo:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref OMIM:610532 semapv:UnspecifiedMatching -orphanet.ordo:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref UMLS:C1864663 semapv:UnspecifiedMatching -orphanet.ordo:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 semapv:UnspecifiedMatching -orphanet.ordo:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS:C1864852 semapv:UnspecifiedMatching -orphanet.ordo:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching -orphanet.ordo:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:616482 semapv:UnspecifiedMatching -orphanet.ordo:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2674173 semapv:UnspecifiedMatching -orphanet.ordo:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref OMIM:151210 semapv:UnspecifiedMatching -orphanet.ordo:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref UMLS:C1835437 semapv:UnspecifiedMatching -orphanet.ordo:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref OMIM:608940 semapv:UnspecifiedMatching -orphanet.ordo:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref UMLS:C1837073 semapv:UnspecifiedMatching -orphanet.ordo:85168 Craniofacial conodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref ICD10:M06.8 semapv:UnspecifiedMatching -orphanet.ordo:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref OMIM:606835 semapv:UnspecifiedMatching -orphanet.ordo:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref UMLS:C1847406 semapv:UnspecifiedMatching -orphanet.ordo:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref OMIM:605274 semapv:UnspecifiedMatching -orphanet.ordo:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref UMLS:C1854470 semapv:UnspecifiedMatching -orphanet.ordo:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref OMIM:618150 semapv:UnspecifiedMatching -orphanet.ordo:85173 IMAGe syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:85173 IMAGe syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching -orphanet.ordo:85173 IMAGe syndrome oboInOwl:hasDbXref UMLS:C1846009 semapv:UnspecifiedMatching -orphanet.ordo:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref MESH:C535826 semapv:UnspecifiedMatching -orphanet.ordo:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref MeSH:C535826 semapv:UnspecifiedMatching -orphanet.ordo:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref OMIM:264180 semapv:UnspecifiedMatching -orphanet.ordo:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref UMLS:C0432206 semapv:UnspecifiedMatching -orphanet.ordo:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref UMLS:C1300228 semapv:UnspecifiedMatching -orphanet.ordo:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -orphanet.ordo:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching -orphanet.ordo:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:600329 semapv:UnspecifiedMatching -orphanet.ordo:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref UMLS:C1838258 semapv:UnspecifiedMatching -orphanet.ordo:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching -orphanet.ordo:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref MESH:C536169 semapv:UnspecifiedMatching -orphanet.ordo:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref MeSH:C536169 semapv:UnspecifiedMatching -orphanet.ordo:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref OMIM:112250 semapv:UnspecifiedMatching -orphanet.ordo:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref UMLS:C1862177 semapv:UnspecifiedMatching -orphanet.ordo:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref OMIM:269300 semapv:UnspecifiedMatching -orphanet.ordo:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref MESH:C535353 semapv:UnspecifiedMatching -orphanet.ordo:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref MeSH:C535353 semapv:UnspecifiedMatching -orphanet.ordo:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref OMIM:614381 semapv:UnspecifiedMatching -orphanet.ordo:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1859301 semapv:UnspecifiedMatching -orphanet.ordo:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -orphanet.ordo:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref OMIM:605946 semapv:UnspecifiedMatching -orphanet.ordo:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref UMLS:C1853825 semapv:UnspecifiedMatching -orphanet.ordo:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref OMIM:182250 semapv:UnspecifiedMatching -orphanet.ordo:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref OMIM:616298 semapv:UnspecifiedMatching -orphanet.ordo:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref UMLS:C0432254 semapv:UnspecifiedMatching -orphanet.ordo:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching -orphanet.ordo:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref OMIM:126550 semapv:UnspecifiedMatching -orphanet.ordo:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref UMLS:C1852022 semapv:UnspecifiedMatching -orphanet.ordo:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD10:M81.5 semapv:UnspecifiedMatching -orphanet.ordo:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:259750 semapv:UnspecifiedMatching -orphanet.ordo:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:615221 semapv:UnspecifiedMatching -orphanet.ordo:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS:C0264080 semapv:UnspecifiedMatching -orphanet.ordo:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref OMIM:605822 semapv:UnspecifiedMatching -orphanet.ordo:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref UMLS:C1853925 semapv:UnspecifiedMatching -orphanet.ordo:85195 Familial expansile osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:85195 Familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching -orphanet.ordo:85195 Familial expansile osteolysis oboInOwl:hasDbXref MeSH:C536335 semapv:UnspecifiedMatching -orphanet.ordo:85195 Familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching -orphanet.ordo:85195 Familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 semapv:UnspecifiedMatching -orphanet.ordo:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref UMLS:C1850155 semapv:UnspecifiedMatching -orphanet.ordo:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:85197 Genochondromatosis type 1 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching -orphanet.ordo:85197 Genochondromatosis type 1 oboInOwl:hasDbXref UMLS:C1300229 semapv:UnspecifiedMatching -orphanet.ordo:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref MESH:C536789 semapv:UnspecifiedMatching -orphanet.ordo:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref MeSH:C536789 semapv:UnspecifiedMatching -orphanet.ordo:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref OMIM:603116 semapv:UnspecifiedMatching -orphanet.ordo:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref UMLS:C1864186 semapv:UnspecifiedMatching -orphanet.ordo:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -orphanet.ordo:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching -orphanet.ordo:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85201 Genitopatellar syndrome oboInOwl:hasDbXref OMIM:606170 semapv:UnspecifiedMatching -orphanet.ordo:85201 Genitopatellar syndrome oboInOwl:hasDbXref UMLS:C1853566 semapv:UnspecifiedMatching -orphanet.ordo:85202 Keutel syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85202 Keutel syndrome oboInOwl:hasDbXref MESH:C536167 semapv:UnspecifiedMatching -orphanet.ordo:85202 Keutel syndrome oboInOwl:hasDbXref MeSH:C536167 semapv:UnspecifiedMatching -orphanet.ordo:85202 Keutel syndrome oboInOwl:hasDbXref OMIM:245150 semapv:UnspecifiedMatching -orphanet.ordo:85202 Keutel syndrome oboInOwl:hasDbXref UMLS:C1855607 semapv:UnspecifiedMatching -orphanet.ordo:85203 Acropectoral syndrome oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:85203 Acropectoral syndrome oboInOwl:hasDbXref OMIM:605967 semapv:UnspecifiedMatching -orphanet.ordo:85203 Acropectoral syndrome oboInOwl:hasDbXref UMLS:C1853812 semapv:UnspecifiedMatching -orphanet.ordo:85212 Fetal Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:85212 Fetal Gaucher disease oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching -orphanet.ordo:85212 Fetal Gaucher disease oboInOwl:hasDbXref UMLS:C1842704 semapv:UnspecifiedMatching -orphanet.ordo:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref MESH:C535556 semapv:UnspecifiedMatching -orphanet.ordo:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref MeSH:C535556 semapv:UnspecifiedMatching -orphanet.ordo:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref OMIM:300262 semapv:UnspecifiedMatching -orphanet.ordo:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref UMLS:C1846056 semapv:UnspecifiedMatching -orphanet.ordo:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref MESH:C537449 semapv:UnspecifiedMatching -orphanet.ordo:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref MeSH:C537449 semapv:UnspecifiedMatching -orphanet.ordo:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref OMIM:300218 semapv:UnspecifiedMatching -orphanet.ordo:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS:C1846170 semapv:UnspecifiedMatching -orphanet.ordo:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1844948 semapv:UnspecifiedMatching -orphanet.ordo:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref OMIM:300261 semapv:UnspecifiedMatching -orphanet.ordo:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref UMLS:C1846057 semapv:UnspecifiedMatching -orphanet.ordo:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref OMIM:300912 semapv:UnspecifiedMatching -orphanet.ordo:85278 Christianson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85278 Christianson syndrome oboInOwl:hasDbXref MESH:C537450 semapv:UnspecifiedMatching -orphanet.ordo:85278 Christianson syndrome oboInOwl:hasDbXref MeSH:C537450 semapv:UnspecifiedMatching -orphanet.ordo:85278 Christianson syndrome oboInOwl:hasDbXref OMIM:300243 semapv:UnspecifiedMatching -orphanet.ordo:85278 Christianson syndrome oboInOwl:hasDbXref UMLS:C2678194 semapv:UnspecifiedMatching -orphanet.ordo:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref OMIM:300534 semapv:UnspecifiedMatching -orphanet.ordo:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref UMLS:C1845243 semapv:UnspecifiedMatching -orphanet.ordo:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref OMIM:300471 semapv:UnspecifiedMatching -orphanet.ordo:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1845450 semapv:UnspecifiedMatching -orphanet.ordo:85282 MEHMO syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85282 MEHMO syndrome oboInOwl:hasDbXref MESH:C537451 semapv:UnspecifiedMatching -orphanet.ordo:85282 MEHMO syndrome oboInOwl:hasDbXref MeSH:C537451 semapv:UnspecifiedMatching -orphanet.ordo:85282 MEHMO syndrome oboInOwl:hasDbXref OMIM:300148 semapv:UnspecifiedMatching -orphanet.ordo:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref MESH:C537472 semapv:UnspecifiedMatching -orphanet.ordo:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref MeSH:C537472 semapv:UnspecifiedMatching -orphanet.ordo:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref OMIM:314580 semapv:UnspecifiedMatching -orphanet.ordo:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref UMLS:C1839735 semapv:UnspecifiedMatching -orphanet.ordo:85284 BRESEK syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85284 BRESEK syndrome oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching -orphanet.ordo:85284 BRESEK syndrome oboInOwl:hasDbXref UMLS:C3502469 semapv:UnspecifiedMatching -orphanet.ordo:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref MESH:C536630 semapv:UnspecifiedMatching -orphanet.ordo:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref MeSH:C536630 semapv:UnspecifiedMatching -orphanet.ordo:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref OMIM:312840 semapv:UnspecifiedMatching -orphanet.ordo:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref UMLS:C1839320 semapv:UnspecifiedMatching -orphanet.ordo:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref OMIM:300238 semapv:UnspecifiedMatching -orphanet.ordo:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref MESH:C537333 semapv:UnspecifiedMatching -orphanet.ordo:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref MeSH:C537333 semapv:UnspecifiedMatching -orphanet.ordo:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref OMIM:300263 semapv:UnspecifiedMatching -orphanet.ordo:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref UMLS:C1846055 semapv:UnspecifiedMatching -orphanet.ordo:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref OMIM:300434 semapv:UnspecifiedMatching -orphanet.ordo:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching -orphanet.ordo:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref OMIM:309545 semapv:UnspecifiedMatching -orphanet.ordo:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching -orphanet.ordo:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref MESH:C536760 semapv:UnspecifiedMatching -orphanet.ordo:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref MeSH:C536760 semapv:UnspecifiedMatching -orphanet.ordo:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching -orphanet.ordo:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref MESH:C537316 semapv:UnspecifiedMatching -orphanet.ordo:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref MeSH:C537316 semapv:UnspecifiedMatching -orphanet.ordo:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:301840 semapv:UnspecifiedMatching -orphanet.ordo:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C1844933 semapv:UnspecifiedMatching -orphanet.ordo:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching -orphanet.ordo:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref UMLS:C1845861 semapv:UnspecifiedMatching -orphanet.ordo:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref OMIM:300491 semapv:UnspecifiedMatching -orphanet.ordo:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref UMLS:C1845343 semapv:UnspecifiedMatching -orphanet.ordo:85295 HSD10 disease, atypical type oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching -orphanet.ordo:85295 HSD10 disease, atypical type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching -orphanet.ordo:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref MESH:C537315 semapv:UnspecifiedMatching -orphanet.ordo:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref MeSH:C537315 semapv:UnspecifiedMatching -orphanet.ordo:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref OMIM:301790 semapv:UnspecifiedMatching -orphanet.ordo:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref UMLS:C1844936 semapv:UnspecifiedMatching -orphanet.ordo:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref ICD10:P61.0 semapv:UnspecifiedMatching -orphanet.ordo:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C3854603 semapv:UnspecifiedMatching -orphanet.ordo:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref OMIM:300519 semapv:UnspecifiedMatching -orphanet.ordo:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref UMLS:C1845285 semapv:UnspecifiedMatching -orphanet.ordo:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref OMIM:300709 semapv:UnspecifiedMatching -orphanet.ordo:85325 X-linked intellectual disability, Stevenson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85326 X-linked intellectual disability, Stoll type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching -orphanet.ordo:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref UMLS:C2678046 semapv:UnspecifiedMatching -orphanet.ordo:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching -orphanet.ordo:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300578 semapv:UnspecifiedMatching -orphanet.ordo:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C0795873 semapv:UnspecifiedMatching -orphanet.ordo:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref UMLS:C2931491 semapv:UnspecifiedMatching -orphanet.ordo:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:85335 Fried syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:85335 Fried syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching -orphanet.ordo:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:854 Primitive portal vein thrombosis oboInOwl:hasDbXref ICD10:I81 semapv:UnspecifiedMatching -orphanet.ordo:854 Primitive portal vein thrombosis oboInOwl:hasDbXref MedDRA:10036206 semapv:UnspecifiedMatching -orphanet.ordo:854 Primitive portal vein thrombosis oboInOwl:hasDbXref UMLS:C0155773 semapv:UnspecifiedMatching -orphanet.ordo:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.3 semapv:UnspecifiedMatching -orphanet.ordo:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.4 semapv:UnspecifiedMatching -orphanet.ordo:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C2931171 semapv:UnspecifiedMatching -orphanet.ordo:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.2 semapv:UnspecifiedMatching -orphanet.ordo:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching -orphanet.ordo:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:618795 semapv:UnspecifiedMatching -orphanet.ordo:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0087031 semapv:UnspecifiedMatching -orphanet.ordo:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.0 semapv:UnspecifiedMatching -orphanet.ordo:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:L40.5+ semapv:UnspecifiedMatching -orphanet.ordo:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M09.0* semapv:UnspecifiedMatching -orphanet.ordo:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0409672 semapv:UnspecifiedMatching -orphanet.ordo:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching -orphanet.ordo:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3495919 semapv:UnspecifiedMatching -orphanet.ordo:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref OMIM:262700 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref MESH:C531616 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref MeSH:C531616 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref MedDRA:10036673 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching -orphanet.ordo:85443 AL amyloidosis oboInOwl:hasDbXref UMLS:C0268381 semapv:UnspecifiedMatching -orphanet.ordo:85445 AA amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching -orphanet.ordo:85445 AA amyloidosis oboInOwl:hasDbXref MedDRA:10039811 semapv:UnspecifiedMatching -orphanet.ordo:85445 AA amyloidosis oboInOwl:hasDbXref UMLS:C0221014 semapv:UnspecifiedMatching -orphanet.ordo:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching -orphanet.ordo:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching -orphanet.ordo:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching -orphanet.ordo:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref UMLS:C0206245 semapv:UnspecifiedMatching -orphanet.ordo:85448 AGel amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching -orphanet.ordo:85448 AGel amyloidosis oboInOwl:hasDbXref OMIM:105120 semapv:UnspecifiedMatching -orphanet.ordo:85448 AGel amyloidosis oboInOwl:hasDbXref UMLS:C0936273 semapv:UnspecifiedMatching -orphanet.ordo:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching -orphanet.ordo:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching -orphanet.ordo:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching -orphanet.ordo:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:E85.0+ semapv:UnspecifiedMatching -orphanet.ordo:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching -orphanet.ordo:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching -orphanet.ordo:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C0796250 semapv:UnspecifiedMatching -orphanet.ordo:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching -orphanet.ordo:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -orphanet.ordo:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref UMLS:C1510489 semapv:UnspecifiedMatching -orphanet.ordo:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching -orphanet.ordo:856 NON RARE IN EUROPE: Tourette syndrome oboInOwl:hasDbXref ICD10:F95.2 semapv:UnspecifiedMatching -orphanet.ordo:857 Townes-Brocks syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:857 Townes-Brocks syndrome oboInOwl:hasDbXref MESH:C536974 semapv:UnspecifiedMatching -orphanet.ordo:857 Townes-Brocks syndrome oboInOwl:hasDbXref MeSH:C536974 semapv:UnspecifiedMatching -orphanet.ordo:857 Townes-Brocks syndrome oboInOwl:hasDbXref OMIM:107480 semapv:UnspecifiedMatching -orphanet.ordo:857 Townes-Brocks syndrome oboInOwl:hasDbXref OMIM:617466 semapv:UnspecifiedMatching -orphanet.ordo:857 Townes-Brocks syndrome oboInOwl:hasDbXref UMLS:C0265246 semapv:UnspecifiedMatching -orphanet.ordo:858 Congenital toxoplasmosis oboInOwl:hasDbXref ICD10:P37.1 semapv:UnspecifiedMatching -orphanet.ordo:858 Congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 semapv:UnspecifiedMatching -orphanet.ordo:858 Congenital toxoplasmosis oboInOwl:hasDbXref MeSH:D014125 semapv:UnspecifiedMatching -orphanet.ordo:858 Congenital toxoplasmosis oboInOwl:hasDbXref MedDRA:10010652 semapv:UnspecifiedMatching -orphanet.ordo:858 Congenital toxoplasmosis oboInOwl:hasDbXref UMLS:C0040560 semapv:UnspecifiedMatching -orphanet.ordo:859 Transcobalamin deficiency oboInOwl:hasDbXref ICD10:D51.2 semapv:UnspecifiedMatching -orphanet.ordo:859 Transcobalamin deficiency oboInOwl:hasDbXref OMIM:275350 semapv:UnspecifiedMatching -orphanet.ordo:859 Transcobalamin deficiency oboInOwl:hasDbXref UMLS:C0342701 semapv:UnspecifiedMatching -orphanet.ordo:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref ICD10:I71.4 semapv:UnspecifiedMatching -orphanet.ordo:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 semapv:UnspecifiedMatching -orphanet.ordo:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching -orphanet.ordo:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching -orphanet.ordo:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching -orphanet.ordo:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching -orphanet.ordo:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref OMIM:608808 semapv:UnspecifiedMatching -orphanet.ordo:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref OMIM:613854 semapv:UnspecifiedMatching -orphanet.ordo:861 Treacher-Collins syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:861 Treacher-Collins syndrome oboInOwl:hasDbXref MedDRA:10051456 semapv:UnspecifiedMatching -orphanet.ordo:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:154500 semapv:UnspecifiedMatching -orphanet.ordo:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:248390 semapv:UnspecifiedMatching -orphanet.ordo:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:613717 semapv:UnspecifiedMatching -orphanet.ordo:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:618939 semapv:UnspecifiedMatching -orphanet.ordo:862 NON RARE IN EUROPE: Hereditary essential tremor oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching -orphanet.ordo:863 Trichinellosis oboInOwl:hasDbXref ICD10:B75 semapv:UnspecifiedMatching -orphanet.ordo:863 Trichinellosis oboInOwl:hasDbXref MESH:D014235 semapv:UnspecifiedMatching -orphanet.ordo:863 Trichinellosis oboInOwl:hasDbXref MeSH:D014235 semapv:UnspecifiedMatching -orphanet.ordo:863 Trichinellosis oboInOwl:hasDbXref MedDRA:10044608 semapv:UnspecifiedMatching -orphanet.ordo:863 Trichinellosis oboInOwl:hasDbXref UMLS:C0040896 semapv:UnspecifiedMatching -orphanet.ordo:86309 DPAGT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:86309 DPAGT1-CDG oboInOwl:hasDbXref OMIM:608093 semapv:UnspecifiedMatching -orphanet.ordo:86309 DPAGT1-CDG oboInOwl:hasDbXref UMLS:C2931004 semapv:UnspecifiedMatching -orphanet.ordo:864 Trichofolliculoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching -orphanet.ordo:864 Trichofolliculoma oboInOwl:hasDbXref MESH:C536553 semapv:UnspecifiedMatching -orphanet.ordo:864 Trichofolliculoma oboInOwl:hasDbXref MeSH:C536553 semapv:UnspecifiedMatching -orphanet.ordo:864 Trichofolliculoma oboInOwl:hasDbXref MedDRA:10044611 semapv:UnspecifiedMatching -orphanet.ordo:864 Trichofolliculoma oboInOwl:hasDbXref UMLS:C0334262 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref MESH:C536552 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref MeSH:C536552 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref OMIM:601606 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref OMIM:612099 semapv:UnspecifiedMatching -orphanet.ordo:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref UMLS:C1275122 semapv:UnspecifiedMatching -orphanet.ordo:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching -orphanet.ordo:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1845987 semapv:UnspecifiedMatching -orphanet.ordo:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching -orphanet.ordo:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref MESH:C535568 semapv:UnspecifiedMatching -orphanet.ordo:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref MeSH:C535568 semapv:UnspecifiedMatching -orphanet.ordo:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref OMIM:168860 semapv:UnspecifiedMatching -orphanet.ordo:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C1868577 semapv:UnspecifiedMatching -orphanet.ordo:86795 Localized lichen myxedematosus oboInOwl:hasDbXref UMLS:C0263390 semapv:UnspecifiedMatching -orphanet.ordo:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching -orphanet.ordo:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref OMIM:615512 semapv:UnspecifiedMatching -orphanet.ordo:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref UMLS:C1860808 semapv:UnspecifiedMatching -orphanet.ordo:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref OMIM:609308 semapv:UnspecifiedMatching -orphanet.ordo:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref UMLS:C1836373 semapv:UnspecifiedMatching -orphanet.ordo:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching -orphanet.ordo:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching -orphanet.ordo:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref UMLS:C1862382 semapv:UnspecifiedMatching -orphanet.ordo:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:601068 semapv:UnspecifiedMatching -orphanet.ordo:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:607876 semapv:UnspecifiedMatching -orphanet.ordo:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:613608 semapv:UnspecifiedMatching -orphanet.ordo:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:615127 semapv:UnspecifiedMatching -orphanet.ordo:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:615400 semapv:UnspecifiedMatching -orphanet.ordo:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q10.4 semapv:UnspecifiedMatching -orphanet.ordo:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q38.4 semapv:UnspecifiedMatching -orphanet.ordo:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching -orphanet.ordo:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS:C0158667 semapv:UnspecifiedMatching -orphanet.ordo:86816 Congenital analbuminemia oboInOwl:hasDbXref ICD10:R77.0 semapv:UnspecifiedMatching -orphanet.ordo:86816 Congenital analbuminemia oboInOwl:hasDbXref OMIM:616000 semapv:UnspecifiedMatching -orphanet.ordo:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching -orphanet.ordo:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref OMIM:612631 semapv:UnspecifiedMatching -orphanet.ordo:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref UMLS:C2675459 semapv:UnspecifiedMatching -orphanet.ordo:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300194 semapv:UnspecifiedMatching -orphanet.ordo:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300990 semapv:UnspecifiedMatching -orphanet.ordo:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref UMLS:C1846242 semapv:UnspecifiedMatching -orphanet.ordo:86819 Atrichia with papular lesions oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching -orphanet.ordo:86819 Atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 semapv:UnspecifiedMatching -orphanet.ordo:86819 Atrichia with papular lesions oboInOwl:hasDbXref UMLS:C1859592 semapv:UnspecifiedMatching -orphanet.ordo:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching -orphanet.ordo:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:608805 semapv:UnspecifiedMatching -orphanet.ordo:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:617383 semapv:UnspecifiedMatching -orphanet.ordo:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref OMIM:601160 semapv:UnspecifiedMatching -orphanet.ordo:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref MESH:D015467 semapv:UnspecifiedMatching -orphanet.ordo:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref MeSH:D015467 semapv:UnspecifiedMatching -orphanet.ordo:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref UMLS:C0023481 semapv:UnspecifiedMatching -orphanet.ordo:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -orphanet.ordo:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref OMIM:131440 semapv:UnspecifiedMatching -orphanet.ordo:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching -orphanet.ordo:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MESH:D054429 semapv:UnspecifiedMatching -orphanet.ordo:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MeSH:D054429 semapv:UnspecifiedMatching -orphanet.ordo:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10023249 semapv:UnspecifiedMatching -orphanet.ordo:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:607785 semapv:UnspecifiedMatching -orphanet.ordo:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0349639 semapv:UnspecifiedMatching -orphanet.ordo:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref MedDRA:10067959 semapv:UnspecifiedMatching -orphanet.ordo:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref UMLS:C0796466 semapv:UnspecifiedMatching -orphanet.ordo:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -orphanet.ordo:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MESH:D000754 semapv:UnspecifiedMatching -orphanet.ordo:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MeSH:D000754 semapv:UnspecifiedMatching -orphanet.ordo:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MedDRA:10038270 semapv:UnspecifiedMatching -orphanet.ordo:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref UMLS:C0002894 semapv:UnspecifiedMatching -orphanet.ordo:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref OMIM:153550 semapv:UnspecifiedMatching -orphanet.ordo:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref UMLS:C1292779 semapv:UnspecifiedMatching -orphanet.ordo:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref ICD10:C94.4 semapv:UnspecifiedMatching -orphanet.ordo:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref MedDRA:10000879 semapv:UnspecifiedMatching -orphanet.ordo:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref UMLS:C0334674 semapv:UnspecifiedMatching -orphanet.ordo:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching -orphanet.ordo:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref UMLS:C1292773 semapv:UnspecifiedMatching -orphanet.ordo:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C1292776 semapv:UnspecifiedMatching -orphanet.ordo:86849 Acute basophilic leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching -orphanet.ordo:86849 Acute basophilic leukemia oboInOwl:hasDbXref MESH:D015471 semapv:UnspecifiedMatching -orphanet.ordo:86849 Acute basophilic leukemia oboInOwl:hasDbXref MeSH:D015471 semapv:UnspecifiedMatching -orphanet.ordo:86849 Acute basophilic leukemia oboInOwl:hasDbXref UMLS:C0023437 semapv:UnspecifiedMatching -orphanet.ordo:86850 Myeloid sarcoma oboInOwl:hasDbXref ICD10:C92.3 semapv:UnspecifiedMatching -orphanet.ordo:86850 Myeloid sarcoma oboInOwl:hasDbXref MESH:D023981 semapv:UnspecifiedMatching -orphanet.ordo:86850 Myeloid sarcoma oboInOwl:hasDbXref MeSH:D023981 semapv:UnspecifiedMatching -orphanet.ordo:86850 Myeloid sarcoma oboInOwl:hasDbXref UMLS:C0152276 semapv:UnspecifiedMatching -orphanet.ordo:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -orphanet.ordo:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref MESH:D015456 semapv:UnspecifiedMatching -orphanet.ordo:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref MeSH:D015456 semapv:UnspecifiedMatching -orphanet.ordo:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref MedDRA:10067399 semapv:UnspecifiedMatching -orphanet.ordo:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref UMLS:C1301357 semapv:UnspecifiedMatching -orphanet.ordo:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.3 semapv:UnspecifiedMatching -orphanet.ordo:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D054403 semapv:UnspecifiedMatching -orphanet.ordo:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref MeSH:D054403 semapv:UnspecifiedMatching -orphanet.ordo:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C0475801 semapv:UnspecifiedMatching -orphanet.ordo:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching -orphanet.ordo:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref MedDRA:10062113 semapv:UnspecifiedMatching -orphanet.ordo:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0349632 semapv:UnspecifiedMatching -orphanet.ordo:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching -orphanet.ordo:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching -orphanet.ordo:86855 Plasmacytoma oboInOwl:hasDbXref MESH:D010954 semapv:UnspecifiedMatching -orphanet.ordo:86855 Plasmacytoma oboInOwl:hasDbXref MeSH:D010954 semapv:UnspecifiedMatching -orphanet.ordo:86855 Plasmacytoma oboInOwl:hasDbXref MedDRA:10035484 semapv:UnspecifiedMatching -orphanet.ordo:86855 Plasmacytoma oboInOwl:hasDbXref UMLS:C0032131 semapv:UnspecifiedMatching -orphanet.ordo:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching -orphanet.ordo:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching -orphanet.ordo:86864 Heavy chain disease oboInOwl:hasDbXref MESH:D006362 semapv:UnspecifiedMatching -orphanet.ordo:86864 Heavy chain disease oboInOwl:hasDbXref MeSH:D006362 semapv:UnspecifiedMatching -orphanet.ordo:86864 Heavy chain disease oboInOwl:hasDbXref MedDRA:10019350 semapv:UnspecifiedMatching -orphanet.ordo:86864 Heavy chain disease oboInOwl:hasDbXref UMLS:C0018852 semapv:UnspecifiedMatching -orphanet.ordo:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching -orphanet.ordo:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref MedDRA:10029460 semapv:UnspecifiedMatching -orphanet.ordo:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching -orphanet.ordo:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MESH:D008230 semapv:UnspecifiedMatching -orphanet.ordo:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MeSH:D008230 semapv:UnspecifiedMatching -orphanet.ordo:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MedDRA:10025325 semapv:UnspecifiedMatching -orphanet.ordo:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS:C0024307 semapv:UnspecifiedMatching -orphanet.ordo:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref ICD10:C86.4 semapv:UnspecifiedMatching -orphanet.ordo:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.6 semapv:UnspecifiedMatching -orphanet.ordo:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015461 semapv:UnspecifiedMatching -orphanet.ordo:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MeSH:D015461 semapv:UnspecifiedMatching -orphanet.ordo:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MedDRA:10042985 semapv:UnspecifiedMatching -orphanet.ordo:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C2363142 semapv:UnspecifiedMatching -orphanet.ordo:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching -orphanet.ordo:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MESH:D054066 semapv:UnspecifiedMatching -orphanet.ordo:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MeSH:D054066 semapv:UnspecifiedMatching -orphanet.ordo:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MedDRA:10065862 semapv:UnspecifiedMatching -orphanet.ordo:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref UMLS:C1955861 semapv:UnspecifiedMatching -orphanet.ordo:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching -orphanet.ordo:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref MedDRA:10028811 semapv:UnspecifiedMatching -orphanet.ordo:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS:C1292777 semapv:UnspecifiedMatching -orphanet.ordo:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref ICD10:C91.5 semapv:UnspecifiedMatching -orphanet.ordo:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MESH:D015459 semapv:UnspecifiedMatching -orphanet.ordo:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MeSH:D015459 semapv:UnspecifiedMatching -orphanet.ordo:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MedDRA:10001413 semapv:UnspecifiedMatching -orphanet.ordo:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0023493 semapv:UnspecifiedMatching -orphanet.ordo:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref ICD10:C86.0 semapv:UnspecifiedMatching -orphanet.ordo:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MESH:D054391 semapv:UnspecifiedMatching -orphanet.ordo:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MeSH:D054391 semapv:UnspecifiedMatching -orphanet.ordo:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MedDRA:10065855 semapv:UnspecifiedMatching -orphanet.ordo:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref UMLS:C0392788 semapv:UnspecifiedMatching -orphanet.ordo:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 semapv:UnspecifiedMatching -orphanet.ordo:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MESH:D058527 semapv:UnspecifiedMatching -orphanet.ordo:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MeSH:D058527 semapv:UnspecifiedMatching -orphanet.ordo:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MedDRA:10022703 semapv:UnspecifiedMatching -orphanet.ordo:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref UMLS:C0456889 semapv:UnspecifiedMatching -orphanet.ordo:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.1 semapv:UnspecifiedMatching -orphanet.ordo:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10066957 semapv:UnspecifiedMatching -orphanet.ordo:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref UMLS:C1333984 semapv:UnspecifiedMatching -orphanet.ordo:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref ICD10:C83.6 semapv:UnspecifiedMatching -orphanet.ordo:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref MESH:C537503 semapv:UnspecifiedMatching -orphanet.ordo:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref MeSH:C537503 semapv:UnspecifiedMatching -orphanet.ordo:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref OMIM:618398 semapv:UnspecifiedMatching -orphanet.ordo:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref UMLS:C0522624 semapv:UnspecifiedMatching -orphanet.ordo:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching -orphanet.ordo:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MESH:D016411 semapv:UnspecifiedMatching -orphanet.ordo:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MeSH:D016411 semapv:UnspecifiedMatching -orphanet.ordo:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MedDRA:10034623 semapv:UnspecifiedMatching -orphanet.ordo:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref UMLS:C0079774 semapv:UnspecifiedMatching -orphanet.ordo:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.5 semapv:UnspecifiedMatching -orphanet.ordo:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10002449 semapv:UnspecifiedMatching -orphanet.ordo:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS:C0020981 semapv:UnspecifiedMatching -orphanet.ordo:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 semapv:UnspecifiedMatching -orphanet.ordo:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C1334968 semapv:UnspecifiedMatching -orphanet.ordo:86896 Histiocytic sarcoma oboInOwl:hasDbXref ICD10:C96.8 semapv:UnspecifiedMatching -orphanet.ordo:86896 Histiocytic sarcoma oboInOwl:hasDbXref MESH:D054747 semapv:UnspecifiedMatching -orphanet.ordo:86896 Histiocytic sarcoma oboInOwl:hasDbXref MeSH:D054747 semapv:UnspecifiedMatching -orphanet.ordo:86896 Histiocytic sarcoma oboInOwl:hasDbXref UMLS:C0334663 semapv:UnspecifiedMatching -orphanet.ordo:86897 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching -orphanet.ordo:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 semapv:UnspecifiedMatching -orphanet.ordo:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MeSH:D054752 semapv:UnspecifiedMatching -orphanet.ordo:86897 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS:C1260327 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref MESH:C536008 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref MESH:C536009 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref MeSH:C536008 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref MeSH:C536009 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref OMIM:615510 semapv:UnspecifiedMatching -orphanet.ordo:869 Triple A syndrome oboInOwl:hasDbXref UMLS:C0271742 semapv:UnspecifiedMatching -orphanet.ordo:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching -orphanet.ordo:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054739 semapv:UnspecifiedMatching -orphanet.ordo:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MeSH:D054739 semapv:UnspecifiedMatching -orphanet.ordo:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MedDRA:10038804 semapv:UnspecifiedMatching -orphanet.ordo:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching -orphanet.ordo:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260326 semapv:UnspecifiedMatching -orphanet.ordo:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching -orphanet.ordo:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054740 semapv:UnspecifiedMatching -orphanet.ordo:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MeSH:D054740 semapv:UnspecifiedMatching -orphanet.ordo:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260325 semapv:UnspecifiedMatching -orphanet.ordo:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching -orphanet.ordo:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref UMLS:C1301364 semapv:UnspecifiedMatching -orphanet.ordo:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching -orphanet.ordo:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref UMLS:C0549118 semapv:UnspecifiedMatching -orphanet.ordo:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching -orphanet.ordo:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref UMLS:C0751120 semapv:UnspecifiedMatching -orphanet.ordo:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref UMLS:C0393703 semapv:UnspecifiedMatching -orphanet.ordo:86913 Myoclonic epilepsy in non-progressive encephalopathies oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching -orphanet.ordo:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching -orphanet.ordo:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref OMIM:152900 semapv:UnspecifiedMatching -orphanet.ordo:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref UMLS:C1835272 semapv:UnspecifiedMatching -orphanet.ordo:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref OMIM:601927 semapv:UnspecifiedMatching -orphanet.ordo:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref UMLS:C2677167 semapv:UnspecifiedMatching -orphanet.ordo:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref OMIM:148520 semapv:UnspecifiedMatching -orphanet.ordo:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref UMLS:C1835663 semapv:UnspecifiedMatching -orphanet.ordo:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C535374 semapv:UnspecifiedMatching -orphanet.ordo:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MeSH:C535374 semapv:UnspecifiedMatching -orphanet.ordo:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 semapv:UnspecifiedMatching -orphanet.ordo:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS:C0406778 semapv:UnspecifiedMatching -orphanet.ordo:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref OMIM:244850 semapv:UnspecifiedMatching -orphanet.ordo:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref UMLS:C1855644 semapv:UnspecifiedMatching -orphanet.ordo:87 Apert syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:87 Apert syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching -orphanet.ordo:87 Apert syndrome oboInOwl:hasDbXref MeSH:D000168 semapv:UnspecifiedMatching -orphanet.ordo:87 Apert syndrome oboInOwl:hasDbXref MedDRA:10002943 semapv:UnspecifiedMatching -orphanet.ordo:87 Apert syndrome oboInOwl:hasDbXref OMIM:101200 semapv:UnspecifiedMatching -orphanet.ordo:87 Apert syndrome oboInOwl:hasDbXref UMLS:C0001193 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.0 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.1 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.2 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.9 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref MESH:D004314 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref MeSH:D004314 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref MedDRA:10044688 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching -orphanet.ordo:870 Down syndrome oboInOwl:hasDbXref UMLS:C0013080 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:113900 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:115080 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:140400 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:604559 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching -orphanet.ordo:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref UMLS:C1879286 semapv:UnspecifiedMatching -orphanet.ordo:873 Desmoid tumor oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -orphanet.ordo:873 Desmoid tumor oboInOwl:hasDbXref OMIM:135290 semapv:UnspecifiedMatching -orphanet.ordo:873 Desmoid tumor oboInOwl:hasDbXref UMLS:C0079218 semapv:UnspecifiedMatching -orphanet.ordo:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching -orphanet.ordo:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching -orphanet.ordo:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching -orphanet.ordo:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching -orphanet.ordo:87503 Mal de Meleda oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:87503 Mal de Meleda oboInOwl:hasDbXref OMIM:248300 semapv:UnspecifiedMatching -orphanet.ordo:87503 Mal de Meleda oboInOwl:hasDbXref UMLS:C0025221 semapv:UnspecifiedMatching -orphanet.ordo:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching -orphanet.ordo:876 Yolk sac tumor oboInOwl:hasDbXref MedDRA:10048251 semapv:UnspecifiedMatching -orphanet.ordo:876 Yolk sac tumor oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -orphanet.ordo:876 Yolk sac tumor oboInOwl:hasDbXref UMLS:C0014145 semapv:UnspecifiedMatching -orphanet.ordo:877 Neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C0206754 semapv:UnspecifiedMatching -orphanet.ordo:87876 Sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256150 semapv:UnspecifiedMatching -orphanet.ordo:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching -orphanet.ordo:87876 Sialidosis type 2 oboInOwl:hasDbXref UMLS:C3888317 semapv:UnspecifiedMatching -orphanet.ordo:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -orphanet.ordo:879 Tungiasis oboInOwl:hasDbXref ICD10:B88.1 semapv:UnspecifiedMatching -orphanet.ordo:879 Tungiasis oboInOwl:hasDbXref MESH:D058285 semapv:UnspecifiedMatching -orphanet.ordo:879 Tungiasis oboInOwl:hasDbXref MeSH:D058285 semapv:UnspecifiedMatching -orphanet.ordo:879 Tungiasis oboInOwl:hasDbXref UMLS:C0277356 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MESH:C538494 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MeSH:C538494 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614742 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614743 semapv:UnspecifiedMatching -orphanet.ordo:88 Idiopathic aplastic anemia oboInOwl:hasDbXref UMLS:C0348890 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.0 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref MESH:D014424 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref MeSH:D014424 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref MedDRA:10045181 semapv:UnspecifiedMatching -orphanet.ordo:881 Turner syndrome oboInOwl:hasDbXref UMLS:C0041408 semapv:UnspecifiedMatching -orphanet.ordo:882 Tyrosinemia type 1 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching -orphanet.ordo:882 Tyrosinemia type 1 oboInOwl:hasDbXref MedDRA:10069462 semapv:UnspecifiedMatching -orphanet.ordo:882 Tyrosinemia type 1 oboInOwl:hasDbXref OMIM:276700 semapv:UnspecifiedMatching -orphanet.ordo:882 Tyrosinemia type 1 oboInOwl:hasDbXref UMLS:C0268490 semapv:UnspecifiedMatching -orphanet.ordo:883 Extragonadal teratoma oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching -orphanet.ordo:883 Extragonadal teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching -orphanet.ordo:883 Extragonadal teratoma oboInOwl:hasDbXref MeSH:D013724 semapv:UnspecifiedMatching -orphanet.ordo:883 Extragonadal teratoma oboInOwl:hasDbXref MedDRA:10043276 semapv:UnspecifiedMatching -orphanet.ordo:883 Extragonadal teratoma oboInOwl:hasDbXref UMLS:C0039538 semapv:UnspecifiedMatching -orphanet.ordo:884 Tetrasomy 12p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:884 Tetrasomy 12p oboInOwl:hasDbXref OMIM:601803 semapv:UnspecifiedMatching -orphanet.ordo:884 Tetrasomy 12p oboInOwl:hasDbXref UMLS:C0265449 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref MeSH:D052245 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref MedDRA:10063396 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:276901 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:276904 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:601067 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:602083 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:602097 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:605472 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching -orphanet.ordo:886 Usher syndrome oboInOwl:hasDbXref UMLS:C0271097 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:249500 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:607417 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:608443 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611090 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611091 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611092 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611093 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611095 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611096 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611097 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611107 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:613192 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614020 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614202 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614208 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614249 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614329 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614333 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614340 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614341 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614342 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614343 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614344 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614345 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614346 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614347 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614499 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615802 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615817 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615942 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615979 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616116 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616193 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616459 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616460 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616739 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616887 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617028 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617125 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617188 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617709 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617816 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618109 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618221 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618402 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618687 semapv:UnspecifiedMatching -orphanet.ordo:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:619931 semapv:UnspecifiedMatching -orphanet.ordo:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref OMIM:613752 semapv:UnspecifiedMatching -orphanet.ordo:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref UMLS:C3151058 semapv:UnspecifiedMatching -orphanet.ordo:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref OMIM:608033 semapv:UnspecifiedMatching -orphanet.ordo:88620 Isolated congenital anosmia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:88620 Isolated congenital anosmia oboInOwl:hasDbXref OMIM:107200 semapv:UnspecifiedMatching -orphanet.ordo:88620 Isolated congenital anosmia oboInOwl:hasDbXref UMLS:C0393778 semapv:UnspecifiedMatching -orphanet.ordo:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref MESH:C536271 semapv:UnspecifiedMatching -orphanet.ordo:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref MeSH:C536271 semapv:UnspecifiedMatching -orphanet.ordo:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref OMIM:608649 semapv:UnspecifiedMatching -orphanet.ordo:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref UMLS:C1837610 semapv:UnspecifiedMatching -orphanet.ordo:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C536343 semapv:UnspecifiedMatching -orphanet.ordo:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref MeSH:C536343 semapv:UnspecifiedMatching -orphanet.ordo:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:609033 semapv:UnspecifiedMatching -orphanet.ordo:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C1836916 semapv:UnspecifiedMatching -orphanet.ordo:88629 Tritanopia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -orphanet.ordo:88629 Tritanopia oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatching -orphanet.ordo:88629 Tritanopia oboInOwl:hasDbXref UMLS:C0155017 semapv:UnspecifiedMatching -orphanet.ordo:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref OMIM:300244 semapv:UnspecifiedMatching -orphanet.ordo:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref UMLS:C1846129 semapv:UnspecifiedMatching -orphanet.ordo:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:107250 semapv:UnspecifiedMatching -orphanet.ordo:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:617315 semapv:UnspecifiedMatching -orphanet.ordo:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching -orphanet.ordo:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching -orphanet.ordo:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0339229 semapv:UnspecifiedMatching -orphanet.ordo:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref OMIM:616231 semapv:UnspecifiedMatching -orphanet.ordo:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching -orphanet.ordo:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching -orphanet.ordo:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref OMIM:614381 semapv:UnspecifiedMatching -orphanet.ordo:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref OMIM:616494 semapv:UnspecifiedMatching -orphanet.ordo:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref UMLS:C2676243 semapv:UnspecifiedMatching -orphanet.ordo:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref OMIM:250620 semapv:UnspecifiedMatching -orphanet.ordo:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref UMLS:C0342738 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref MESH:D000699 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref MeSH:D000699 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref MeSH:D009477 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref OMIM:243000 semapv:UnspecifiedMatching -orphanet.ordo:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref UMLS:C0020075 semapv:UnspecifiedMatching -orphanet.ordo:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E03.8 semapv:UnspecifiedMatching -orphanet.ordo:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref OMIM:610743 semapv:UnspecifiedMatching -orphanet.ordo:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref UMLS:C3683483 semapv:UnspecifiedMatching -orphanet.ordo:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref OMIM:161900 semapv:UnspecifiedMatching -orphanet.ordo:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref UMLS:C1854631 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref MESH:D000567 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref MeSH:D000567 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104530 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:130900 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204650 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204700 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301200 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:612529 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:613211 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:614832 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:620104 semapv:UnspecifiedMatching -orphanet.ordo:88661 Amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0002452 semapv:UnspecifiedMatching -orphanet.ordo:88673 Hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching -orphanet.ordo:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MESH:D006528 semapv:UnspecifiedMatching -orphanet.ordo:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MeSH:D006528 semapv:UnspecifiedMatching -orphanet.ordo:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MedDRA:10049010 semapv:UnspecifiedMatching -orphanet.ordo:88673 Hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching -orphanet.ordo:88673 Hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C2239176 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref MESH:C536495 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref MESH:C536534 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref MeSH:C536495 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref MeSH:C536534 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref MedDRA:10053665 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref MedDRA:10066022 semapv:UnspecifiedMatching -orphanet.ordo:887 VACTERL/VATER association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref MESH:C536528 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref MeSH:C536528 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:119300 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:604547 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:606713 semapv:UnspecifiedMatching -orphanet.ordo:888 Van der Woude syndrome oboInOwl:hasDbXref UMLS:C0175697 semapv:UnspecifiedMatching -orphanet.ordo:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref ICD10:M31.0 semapv:UnspecifiedMatching -orphanet.ordo:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref UMLS:C0151436 semapv:UnspecifiedMatching -orphanet.ordo:88917 X-linked Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:88917 X-linked Alport syndrome oboInOwl:hasDbXref MedDRA:10001843 semapv:UnspecifiedMatching -orphanet.ordo:88917 X-linked Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching -orphanet.ordo:88917 X-linked Alport syndrome oboInOwl:hasDbXref UMLS:C1567742 semapv:UnspecifiedMatching -orphanet.ordo:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref MESH:C536586 semapv:UnspecifiedMatching -orphanet.ordo:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref MeSH:C536586 semapv:UnspecifiedMatching -orphanet.ordo:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching -orphanet.ordo:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref UMLS:C2931253 semapv:UnspecifiedMatching -orphanet.ordo:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref MESH:C536587 semapv:UnspecifiedMatching -orphanet.ordo:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref MeSH:C536587 semapv:UnspecifiedMatching -orphanet.ordo:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref MedDRA:10001843 semapv:UnspecifiedMatching -orphanet.ordo:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching -orphanet.ordo:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref UMLS:C1567744 semapv:UnspecifiedMatching -orphanet.ordo:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching -orphanet.ordo:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref OMIM:600273 semapv:UnspecifiedMatching -orphanet.ordo:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref UMLS:C1838327 semapv:UnspecifiedMatching -orphanet.ordo:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref OMIM:145260 semapv:UnspecifiedMatching -orphanet.ordo:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref UMLS:C1840389 semapv:UnspecifiedMatching -orphanet.ordo:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref OMIM:614491 semapv:UnspecifiedMatching -orphanet.ordo:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref UMLS:C1840390 semapv:UnspecifiedMatching -orphanet.ordo:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching -orphanet.ordo:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref OMIM:614492 semapv:UnspecifiedMatching -orphanet.ordo:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref UMLS:C1840391 semapv:UnspecifiedMatching -orphanet.ordo:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching -orphanet.ordo:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching -orphanet.ordo:88991 Rare congenital non-syndromic heart malformation oboInOwl:hasDbXref UMLS:C0018798 semapv:UnspecifiedMatching -orphanet.ordo:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching -orphanet.ordo:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MESH:D006504 semapv:UnspecifiedMatching -orphanet.ordo:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MeSH:D006504 semapv:UnspecifiedMatching -orphanet.ordo:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MedDRA:10047216 semapv:UnspecifiedMatching -orphanet.ordo:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref UMLS:C0019156 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref MESH:C536382 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref MeSH:C536382 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:305390 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:601813 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:605750 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:613310 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:616468 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:617572 semapv:UnspecifiedMatching -orphanet.ordo:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C0339539 semapv:UnspecifiedMatching -orphanet.ordo:892 Von Hippel-Lindau disease oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching -orphanet.ordo:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 semapv:UnspecifiedMatching -orphanet.ordo:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MeSH:D006623 semapv:UnspecifiedMatching -orphanet.ordo:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MedDRA:10047716 semapv:UnspecifiedMatching -orphanet.ordo:892 Von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 semapv:UnspecifiedMatching -orphanet.ordo:892 Von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C0019562 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref MESH:C538295 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref MESH:D017624 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref MeSH:C538295 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref MeSH:D017624 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref OMIM:612469 semapv:UnspecifiedMatching -orphanet.ordo:893 WAGR syndrome oboInOwl:hasDbXref UMLS:C0206115 semapv:UnspecifiedMatching -orphanet.ordo:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching -orphanet.ordo:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref MESH:C536463 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref MeSH:C536463 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:619947 semapv:UnspecifiedMatching -orphanet.ordo:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref UMLS:C2700265 semapv:UnspecifiedMatching -orphanet.ordo:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching -orphanet.ordo:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:277580 semapv:UnspecifiedMatching -orphanet.ordo:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613265 semapv:UnspecifiedMatching -orphanet.ordo:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613266 semapv:UnspecifiedMatching -orphanet.ordo:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref UMLS:C1848519 semapv:UnspecifiedMatching -orphanet.ordo:898 Wagner disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:898 Wagner disease oboInOwl:hasDbXref MESH:C536075 semapv:UnspecifiedMatching -orphanet.ordo:898 Wagner disease oboInOwl:hasDbXref MeSH:C536075 semapv:UnspecifiedMatching -orphanet.ordo:898 Wagner disease oboInOwl:hasDbXref MedDRA:10063383 semapv:UnspecifiedMatching -orphanet.ordo:898 Wagner disease oboInOwl:hasDbXref OMIM:143200 semapv:UnspecifiedMatching -orphanet.ordo:898 Wagner disease oboInOwl:hasDbXref UMLS:C1840452 semapv:UnspecifiedMatching -orphanet.ordo:89833 Palmoplantar keratoderma with tonotubular keratin oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching -orphanet.ordo:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching -orphanet.ordo:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:619599 semapv:UnspecifiedMatching -orphanet.ordo:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -orphanet.ordo:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref OMIM:604129 semapv:UnspecifiedMatching -orphanet.ordo:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref UMLS:C1275114 semapv:UnspecifiedMatching -orphanet.ordo:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref MESH:C537848 semapv:UnspecifiedMatching -orphanet.ordo:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref MeSH:C537848 semapv:UnspecifiedMatching -orphanet.ordo:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref OMIM:257320 semapv:UnspecifiedMatching -orphanet.ordo:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref UMLS:C0796089 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref MESH:D058494 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref MeSH:D058494 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:253280 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613150 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613153 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613154 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:614643 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:614830 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615041 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615181 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615249 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615287 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:616538 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:618135 semapv:UnspecifiedMatching -orphanet.ordo:899 Walker-Warburg syndrome oboInOwl:hasDbXref UMLS:C0265221 semapv:UnspecifiedMatching -orphanet.ordo:89936 X-linked hypophosphatemia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:89936 X-linked hypophosphatemia oboInOwl:hasDbXref OMIM:307800 semapv:UnspecifiedMatching -orphanet.ordo:89936 X-linked hypophosphatemia oboInOwl:hasDbXref UMLS:C3540852 semapv:UnspecifiedMatching -orphanet.ordo:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:193100 semapv:UnspecifiedMatching -orphanet.ordo:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0342642 semapv:UnspecifiedMatching -orphanet.ordo:89938 Bartter syndrome type 4 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching -orphanet.ordo:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching -orphanet.ordo:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:9 Tetrasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching -orphanet.ordo:9 Tetrasomy X oboInOwl:hasDbXref MESH:C536502 semapv:UnspecifiedMatching -orphanet.ordo:9 Tetrasomy X oboInOwl:hasDbXref MeSH:C536502 semapv:UnspecifiedMatching -orphanet.ordo:9 Tetrasomy X oboInOwl:hasDbXref UMLS:C0265496 semapv:UnspecifiedMatching -orphanet.ordo:90 Argininemia oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:90 Argininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching -orphanet.ordo:90 Argininemia oboInOwl:hasDbXref MeSH:D020162 semapv:UnspecifiedMatching -orphanet.ordo:90 Argininemia oboInOwl:hasDbXref MedDRA:10062695 semapv:UnspecifiedMatching -orphanet.ordo:90 Argininemia oboInOwl:hasDbXref OMIM:207800 semapv:UnspecifiedMatching -orphanet.ordo:90 Argininemia oboInOwl:hasDbXref UMLS:C0268548 semapv:UnspecifiedMatching -orphanet.ordo:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M31.3 semapv:UnspecifiedMatching -orphanet.ordo:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 semapv:UnspecifiedMatching -orphanet.ordo:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MeSH:D014890 semapv:UnspecifiedMatching -orphanet.ordo:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10047888 semapv:UnspecifiedMatching -orphanet.ordo:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 semapv:UnspecifiedMatching -orphanet.ordo:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C3495801 semapv:UnspecifiedMatching -orphanet.ordo:90000 Erythema elevatum diutinum oboInOwl:hasDbXref ICD10:L95.1 semapv:UnspecifiedMatching -orphanet.ordo:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching -orphanet.ordo:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MeSH:C535509 semapv:UnspecifiedMatching -orphanet.ordo:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MedDRA:10056968 semapv:UnspecifiedMatching -orphanet.ordo:90000 Erythema elevatum diutinum oboInOwl:hasDbXref UMLS:C0263398 semapv:UnspecifiedMatching -orphanet.ordo:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching -orphanet.ordo:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref OMIM:300843 semapv:UnspecifiedMatching -orphanet.ordo:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref UMLS:C3159311 semapv:UnspecifiedMatching -orphanet.ordo:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref MedDRA:10071575 semapv:UnspecifiedMatching -orphanet.ordo:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref UMLS:C0409999 semapv:UnspecifiedMatching -orphanet.ordo:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching -orphanet.ordo:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching -orphanet.ordo:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref UMLS:C0543859 semapv:UnspecifiedMatching -orphanet.ordo:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching -orphanet.ordo:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref OMIM:610798 semapv:UnspecifiedMatching -orphanet.ordo:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref UMLS:C1835829 semapv:UnspecifiedMatching -orphanet.ordo:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching -orphanet.ordo:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref MESH:C548011 semapv:UnspecifiedMatching -orphanet.ordo:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref MeSH:C548011 semapv:UnspecifiedMatching -orphanet.ordo:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref OMIM:610706 semapv:UnspecifiedMatching -orphanet.ordo:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref UMLS:C1853144 semapv:UnspecifiedMatching -orphanet.ordo:90025 Non-syndromic syndactyly oboInOwl:hasDbXref ICD10:Q70 semapv:UnspecifiedMatching -orphanet.ordo:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MESH:D013576 semapv:UnspecifiedMatching -orphanet.ordo:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MeSH:D013576 semapv:UnspecifiedMatching -orphanet.ordo:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MedDRA:10042778 semapv:UnspecifiedMatching -orphanet.ordo:90025 Non-syndromic syndactyly oboInOwl:hasDbXref UMLS:C0039075 semapv:UnspecifiedMatching -orphanet.ordo:90026 Primary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching -orphanet.ordo:90026 Primary erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching -orphanet.ordo:90026 Primary erythromelalgia oboInOwl:hasDbXref UMLS:C0014805 semapv:UnspecifiedMatching -orphanet.ordo:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching -orphanet.ordo:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref OMIM:618660 semapv:UnspecifiedMatching -orphanet.ordo:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching -orphanet.ordo:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref OMIM:235700 semapv:UnspecifiedMatching -orphanet.ordo:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching -orphanet.ordo:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref MedDRA:10047822 semapv:UnspecifiedMatching -orphanet.ordo:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref UMLS:C0272118 semapv:UnspecifiedMatching -orphanet.ordo:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref ICD10:D59.6 semapv:UnspecifiedMatching -orphanet.ordo:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref MESH:C538618 semapv:UnspecifiedMatching -orphanet.ordo:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref MeSH:C538618 semapv:UnspecifiedMatching -orphanet.ordo:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref UMLS:C0086774 semapv:UnspecifiedMatching -orphanet.ordo:90036 Mixed-type autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching -orphanet.ordo:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.0 semapv:UnspecifiedMatching -orphanet.ordo:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0391817 semapv:UnspecifiedMatching -orphanet.ordo:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching -orphanet.ordo:90039 Hemoglobin D disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:90039 Hemoglobin D disease oboInOwl:hasDbXref MedDRA:10055019 semapv:UnspecifiedMatching -orphanet.ordo:90039 Hemoglobin D disease oboInOwl:hasDbXref UMLS:C0272080 semapv:UnspecifiedMatching -orphanet.ordo:90041 Gaisböck syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:90041 Gaisböck syndrome oboInOwl:hasDbXref MedDRA:10042217 semapv:UnspecifiedMatching -orphanet.ordo:90041 Gaisböck syndrome oboInOwl:hasDbXref MedDRA:10053885 semapv:UnspecifiedMatching -orphanet.ordo:90041 Gaisböck syndrome oboInOwl:hasDbXref UMLS:C0541719 semapv:UnspecifiedMatching -orphanet.ordo:90042 Primary familial polycythemia oboInOwl:hasDbXref ICD10:D75.0 semapv:UnspecifiedMatching -orphanet.ordo:90042 Primary familial polycythemia oboInOwl:hasDbXref OMIM:133100 semapv:UnspecifiedMatching -orphanet.ordo:90042 Primary familial polycythemia oboInOwl:hasDbXref UMLS:C0152264 semapv:UnspecifiedMatching -orphanet.ordo:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref OMIM:609153 semapv:UnspecifiedMatching -orphanet.ordo:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref UMLS:C1836705 semapv:UnspecifiedMatching -orphanet.ordo:90045 Hereditary folate malabsorption oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching -orphanet.ordo:90045 Hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 semapv:UnspecifiedMatching -orphanet.ordo:90045 Hereditary folate malabsorption oboInOwl:hasDbXref UMLS:C0342705 semapv:UnspecifiedMatching -orphanet.ordo:90050 Retinopathy of prematurity oboInOwl:hasDbXref ICD10:H35.1 semapv:UnspecifiedMatching -orphanet.ordo:90050 Retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 semapv:UnspecifiedMatching -orphanet.ordo:90050 Retinopathy of prematurity oboInOwl:hasDbXref MeSH:D012178 semapv:UnspecifiedMatching -orphanet.ordo:90050 Retinopathy of prematurity oboInOwl:hasDbXref MedDRA:10038933 semapv:UnspecifiedMatching -orphanet.ordo:90050 Retinopathy of prematurity oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching -orphanet.ordo:90050 Retinopathy of prematurity oboInOwl:hasDbXref UMLS:C0035344 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.0 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.1 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.2 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.3 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.4 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.5 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.8 semapv:UnspecifiedMatching -orphanet.ordo:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.9 semapv:UnspecifiedMatching -orphanet.ordo:90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients oboInOwl:hasDbXref ICD10:B18.2 semapv:UnspecifiedMatching -orphanet.ordo:90053 Complications after hematopoietic stem cell transplantation oboInOwl:hasDbXref ICD10:Z94.8 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.0 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.1 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.2 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.3 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.4 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.5 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.6 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.7 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.8 semapv:UnspecifiedMatching -orphanet.ordo:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.9 semapv:UnspecifiedMatching -orphanet.ordo:90058 Spinal cord injury oboInOwl:hasDbXref ICD10:T09.3 semapv:UnspecifiedMatching -orphanet.ordo:90058 Spinal cord injury oboInOwl:hasDbXref MedDRA:10041552 semapv:UnspecifiedMatching -orphanet.ordo:90058 Spinal cord injury oboInOwl:hasDbXref UMLS:C0037929 semapv:UnspecifiedMatching -orphanet.ordo:90059 Sudden sensorineural hearing loss oboInOwl:hasDbXref ICD10:H83.3 semapv:UnspecifiedMatching -orphanet.ordo:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref ICD10:R04.8 semapv:UnspecifiedMatching -orphanet.ordo:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching -orphanet.ordo:90062 Acute liver failure oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching -orphanet.ordo:90062 Acute liver failure oboInOwl:hasDbXref MESH:D017114 semapv:UnspecifiedMatching -orphanet.ordo:90062 Acute liver failure oboInOwl:hasDbXref MeSH:D017114 semapv:UnspecifiedMatching -orphanet.ordo:90062 Acute liver failure oboInOwl:hasDbXref MedDRA:10000804 semapv:UnspecifiedMatching -orphanet.ordo:90062 Acute liver failure oboInOwl:hasDbXref UMLS:C0162557 semapv:UnspecifiedMatching -orphanet.ordo:90064 Acute peripheral arterial occlusion oboInOwl:hasDbXref ICD10:I74.4 semapv:UnspecifiedMatching -orphanet.ordo:90065 Acquired aneurysmal subarachnoid hemorrhage oboInOwl:hasDbXref ICD10:I60.9 semapv:UnspecifiedMatching -orphanet.ordo:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref ICD10:J15.1 semapv:UnspecifiedMatching -orphanet.ordo:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref UMLS:C0920182 semapv:UnspecifiedMatching -orphanet.ordo:90068 Cocaine intoxication oboInOwl:hasDbXref ICD10:T40.5 semapv:UnspecifiedMatching -orphanet.ordo:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching -orphanet.ordo:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref ICD10:B18.0 semapv:UnspecifiedMatching -orphanet.ordo:90076 Partial deep dermal and full thickness burns oboInOwl:hasDbXref ICD10:T30.3 semapv:UnspecifiedMatching -orphanet.ordo:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref ICD10:A49.1 semapv:UnspecifiedMatching -orphanet.ordo:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasDbXref ICD10:H59.8 semapv:UnspecifiedMatching -orphanet.ordo:90081 AIDS wasting syndrome oboInOwl:hasDbXref ICD10:B22.2 semapv:UnspecifiedMatching -orphanet.ordo:90081 AIDS wasting syndrome oboInOwl:hasDbXref UMLS:C0343755 semapv:UnspecifiedMatching -orphanet.ordo:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching -orphanet.ordo:901 Wells syndrome oboInOwl:hasDbXref MESH:C536693 semapv:UnspecifiedMatching -orphanet.ordo:901 Wells syndrome oboInOwl:hasDbXref MeSH:C536693 semapv:UnspecifiedMatching -orphanet.ordo:901 Wells syndrome oboInOwl:hasDbXref UMLS:C0343101 semapv:UnspecifiedMatching -orphanet.ordo:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:214370 semapv:UnspecifiedMatching -orphanet.ordo:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref MESH:C535717 semapv:UnspecifiedMatching -orphanet.ordo:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref MeSH:C535717 semapv:UnspecifiedMatching -orphanet.ordo:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching -orphanet.ordo:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref UMLS:C1858338 semapv:UnspecifiedMatching -orphanet.ordo:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:601152 semapv:UnspecifiedMatching -orphanet.ordo:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:616505 semapv:UnspecifiedMatching -orphanet.ordo:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref UMLS:C0393807 semapv:UnspecifiedMatching -orphanet.ordo:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref MESH:C535705 semapv:UnspecifiedMatching -orphanet.ordo:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref MeSH:C535705 semapv:UnspecifiedMatching -orphanet.ordo:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching -orphanet.ordo:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref MESH:C535706 semapv:UnspecifiedMatching -orphanet.ordo:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref MeSH:C535706 semapv:UnspecifiedMatching -orphanet.ordo:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching -orphanet.ordo:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref UMLS:C1837756 semapv:UnspecifiedMatching -orphanet.ordo:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -orphanet.ordo:90185 Non-hereditary late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:90186 Meige disease oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching -orphanet.ordo:90186 Meige disease oboInOwl:hasDbXref MeSH:D008538 semapv:UnspecifiedMatching -orphanet.ordo:90186 Meige disease oboInOwl:hasDbXref MedDRA:10027138 semapv:UnspecifiedMatching -orphanet.ordo:90186 Meige disease oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching -orphanet.ordo:90186 Meige disease oboInOwl:hasDbXref UMLS:C1704424 semapv:UnspecifiedMatching -orphanet.ordo:902 Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:902 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedMatching -orphanet.ordo:902 Werner syndrome oboInOwl:hasDbXref MeSH:D014898 semapv:UnspecifiedMatching -orphanet.ordo:902 Werner syndrome oboInOwl:hasDbXref MedDRA:10049429 semapv:UnspecifiedMatching -orphanet.ordo:902 Werner syndrome oboInOwl:hasDbXref OMIM:277700 semapv:UnspecifiedMatching -orphanet.ordo:902 Werner syndrome oboInOwl:hasDbXref UMLS:C0043119 semapv:UnspecifiedMatching -orphanet.ordo:90280 Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching -orphanet.ordo:90280 Chilblain lupus oboInOwl:hasDbXref MESH:C535924 semapv:UnspecifiedMatching -orphanet.ordo:90280 Chilblain lupus oboInOwl:hasDbXref MeSH:C535924 semapv:UnspecifiedMatching -orphanet.ordo:90280 Chilblain lupus oboInOwl:hasDbXref MedDRA:10025141 semapv:UnspecifiedMatching -orphanet.ordo:90280 Chilblain lupus oboInOwl:hasDbXref UMLS:C0024145 semapv:UnspecifiedMatching -orphanet.ordo:90281 Discoid lupus erythematosus oboInOwl:hasDbXref ICD10:L93.0 semapv:UnspecifiedMatching -orphanet.ordo:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MESH:D008179 semapv:UnspecifiedMatching -orphanet.ordo:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MeSH:D008179 semapv:UnspecifiedMatching -orphanet.ordo:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MedDRA:10013072 semapv:UnspecifiedMatching -orphanet.ordo:90281 Discoid lupus erythematosus oboInOwl:hasDbXref UMLS:C0024138 semapv:UnspecifiedMatching -orphanet.ordo:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching -orphanet.ordo:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching -orphanet.ordo:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref UMLS:C0406636 semapv:UnspecifiedMatching -orphanet.ordo:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching -orphanet.ordo:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref MESH:D015435 semapv:UnspecifiedMatching -orphanet.ordo:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref MeSH:D015435 semapv:UnspecifiedMatching -orphanet.ordo:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref UMLS:C0030327 semapv:UnspecifiedMatching -orphanet.ordo:90289 Localized scleroderma oboInOwl:hasDbXref ICD10:L94.0 semapv:UnspecifiedMatching -orphanet.ordo:90289 Localized scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching -orphanet.ordo:90289 Localized scleroderma oboInOwl:hasDbXref MeSH:D012594 semapv:UnspecifiedMatching -orphanet.ordo:90289 Localized scleroderma oboInOwl:hasDbXref MedDRA:10039712 semapv:UnspecifiedMatching -orphanet.ordo:90289 Localized scleroderma oboInOwl:hasDbXref UMLS:C0036420 semapv:UnspecifiedMatching -orphanet.ordo:90290 CREST syndrome oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching -orphanet.ordo:90290 CREST syndrome oboInOwl:hasDbXref MESH:D017675 semapv:UnspecifiedMatching -orphanet.ordo:90290 CREST syndrome oboInOwl:hasDbXref MeSH:D017675 semapv:UnspecifiedMatching -orphanet.ordo:90290 CREST syndrome oboInOwl:hasDbXref MedDRA:10011380 semapv:UnspecifiedMatching -orphanet.ordo:90290 CREST syndrome oboInOwl:hasDbXref UMLS:C0206138 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.2 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.9 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref MedDRA:10042953 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching -orphanet.ordo:90291 Systemic sclerosis oboInOwl:hasDbXref UMLS:C0036421 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref MESH:D014842 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref MeSH:D014842 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref MedDRA:10047715 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:314560 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching -orphanet.ordo:903 Von Willebrand disease oboInOwl:hasDbXref UMLS:C0042974 semapv:UnspecifiedMatching -orphanet.ordo:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -orphanet.ordo:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref OMIM:200170 semapv:UnspecifiedMatching -orphanet.ordo:90307 Parkes Weber syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:90307 Parkes Weber syndrome oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching -orphanet.ordo:90307 Parkes Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching -orphanet.ordo:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref MedDRA:10051452 semapv:UnspecifiedMatching -orphanet.ordo:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching -orphanet.ordo:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching -orphanet.ordo:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching -orphanet.ordo:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref UMLS:C0751039 semapv:UnspecifiedMatching -orphanet.ordo:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching -orphanet.ordo:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching -orphanet.ordo:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref UMLS:C0751038 semapv:UnspecifiedMatching -orphanet.ordo:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching -orphanet.ordo:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching -orphanet.ordo:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216411 semapv:UnspecifiedMatching -orphanet.ordo:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref UMLS:C0751037 semapv:UnspecifiedMatching -orphanet.ordo:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref UMLS:C2931488 semapv:UnspecifiedMatching -orphanet.ordo:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:90340 Blau syndrome oboInOwl:hasDbXref MedDRA:10071755 semapv:UnspecifiedMatching -orphanet.ordo:90340 Blau syndrome oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching -orphanet.ordo:90340 Blau syndrome oboInOwl:hasDbXref UMLS:C1861303 semapv:UnspecifiedMatching -orphanet.ordo:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:90341 Early-onset sarcoidosis oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching -orphanet.ordo:90341 Early-onset sarcoidosis oboInOwl:hasDbXref UMLS:C1836122 semapv:UnspecifiedMatching -orphanet.ordo:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching -orphanet.ordo:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref MESH:C536766 semapv:UnspecifiedMatching -orphanet.ordo:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref MeSH:C536766 semapv:UnspecifiedMatching -orphanet.ordo:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref OMIM:278750 semapv:UnspecifiedMatching -orphanet.ordo:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref UMLS:C1848410 semapv:UnspecifiedMatching -orphanet.ordo:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:123700 semapv:UnspecifiedMatching -orphanet.ordo:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:614434 semapv:UnspecifiedMatching -orphanet.ordo:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:616603 semapv:UnspecifiedMatching -orphanet.ordo:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref UMLS:C0268350 semapv:UnspecifiedMatching -orphanet.ordo:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -orphanet.ordo:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:219100 semapv:UnspecifiedMatching -orphanet.ordo:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:614437 semapv:UnspecifiedMatching -orphanet.ordo:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref UMLS:C0268351 semapv:UnspecifiedMatching -orphanet.ordo:90350 Autosomal recessive cutis laxa type 2 oboInOwl:hasDbXref UMLS:C0432337 semapv:UnspecifiedMatching -orphanet.ordo:90354 Brittle cornea syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching -orphanet.ordo:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:614170 semapv:UnspecifiedMatching -orphanet.ordo:90354 Brittle cornea syndrome oboInOwl:hasDbXref UMLS:C0268344 semapv:UnspecifiedMatching -orphanet.ordo:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching -orphanet.ordo:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref MESH:C536567 semapv:UnspecifiedMatching -orphanet.ordo:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref MeSH:C536567 semapv:UnspecifiedMatching -orphanet.ordo:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref OMIM:152800 semapv:UnspecifiedMatching -orphanet.ordo:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C2931241 semapv:UnspecifiedMatching -orphanet.ordo:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching -orphanet.ordo:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching -orphanet.ordo:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:146520 semapv:UnspecifiedMatching -orphanet.ordo:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:613981 semapv:UnspecifiedMatching -orphanet.ordo:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref UMLS:C1840299 semapv:UnspecifiedMatching -orphanet.ordo:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching -orphanet.ordo:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref MedDRA:10043192 semapv:UnspecifiedMatching -orphanet.ordo:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref UMLS:C0263402 semapv:UnspecifiedMatching -orphanet.ordo:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching -orphanet.ordo:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref MESH:C536378 semapv:UnspecifiedMatching -orphanet.ordo:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref MeSH:C536378 semapv:UnspecifiedMatching -orphanet.ordo:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:107000 semapv:UnspecifiedMatching -orphanet.ordo:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:614149 semapv:UnspecifiedMatching -orphanet.ordo:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref UMLS:C1862840 semapv:UnspecifiedMatching -orphanet.ordo:90393 Nodular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:90394 Discrete papular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:90395 Papular mucinosis of infancy oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref UMLS:C0406660 semapv:UnspecifiedMatching -orphanet.ordo:90397 Self-healing papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:904 Williams syndrome oboInOwl:hasDbXref ICD10:Q93.8 semapv:UnspecifiedMatching -orphanet.ordo:904 Williams syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching -orphanet.ordo:904 Williams syndrome oboInOwl:hasDbXref MeSH:D018980 semapv:UnspecifiedMatching -orphanet.ordo:904 Williams syndrome oboInOwl:hasDbXref MedDRA:10049644 semapv:UnspecifiedMatching -orphanet.ordo:904 Williams syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching -orphanet.ordo:904 Williams syndrome oboInOwl:hasDbXref UMLS:C0175702 semapv:UnspecifiedMatching -orphanet.ordo:90400 Scleromyxedema without monoclonal gammopathy oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching -orphanet.ordo:905 Wilson disease oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching -orphanet.ordo:905 Wilson disease oboInOwl:hasDbXref MESH:D006527 semapv:UnspecifiedMatching -orphanet.ordo:905 Wilson disease oboInOwl:hasDbXref MeSH:D006527 semapv:UnspecifiedMatching -orphanet.ordo:905 Wilson disease oboInOwl:hasDbXref MedDRA:10019819 semapv:UnspecifiedMatching -orphanet.ordo:905 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching -orphanet.ordo:905 Wilson disease oboInOwl:hasDbXref UMLS:C0019202 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10:D82.0 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MeSH:D014923 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MedDRA:10047992 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:600903 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:614493 semapv:UnspecifiedMatching -orphanet.ordo:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS:C0043194 semapv:UnspecifiedMatching -orphanet.ordo:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300030 semapv:UnspecifiedMatching -orphanet.ordo:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300066 semapv:UnspecifiedMatching -orphanet.ordo:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300914 semapv:UnspecifiedMatching -orphanet.ordo:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:304500 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600101 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600652 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600965 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600994 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601316 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601317 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601369 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601412 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601543 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601544 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601868 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:602459 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:603622 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:603964 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:604717 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:605192 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:605583 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606012 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606282 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606451 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606705 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607017 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607197 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607453 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607841 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608224 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608372 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608394 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608641 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608645 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608652 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:609129 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:609965 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:612431 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:612642 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:612643 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:612644 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:613074 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:613558 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:614152 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:614211 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:614614 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:615629 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:615649 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:615654 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616044 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616340 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616357 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616697 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616707 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616968 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616969 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:617605 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:617606 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:617663 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618094 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618140 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618410 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618778 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618787 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618915 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:619081 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:619086 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:619274 semapv:UnspecifiedMatching -orphanet.ordo:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:620227 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:220290 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600060 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600316 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600791 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600792 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600971 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600974 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601071 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601072 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601386 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601869 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:602092 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603010 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603098 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603629 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603678 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603720 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:604060 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:605428 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:605818 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607039 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607084 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607101 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607239 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607821 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608219 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608264 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608265 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608565 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608653 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609006 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609439 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609533 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609646 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609647 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609706 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609823 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609941 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609946 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609952 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610143 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610153 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610154 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610212 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610220 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610248 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610265 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610419 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:611022 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:611451 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:612433 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:612645 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:612789 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613079 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613285 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613307 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613391 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613392 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613453 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613685 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613718 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613865 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613916 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614035 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614414 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614617 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614861 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614899 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614934 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614944 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614945 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615429 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615540 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615837 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615974 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:616042 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:616515 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:616705 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:617637 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:617639 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:617654 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618145 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618257 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618410 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618422 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618434 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618456 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618481 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619093 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619174 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619500 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619615 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619804 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619808 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619810 semapv:UnspecifiedMatching -orphanet.ordo:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:620238 semapv:UnspecifiedMatching -orphanet.ordo:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -orphanet.ordo:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:221745 semapv:UnspecifiedMatching -orphanet.ordo:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching -orphanet.ordo:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:500008 semapv:UnspecifiedMatching -orphanet.ordo:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:580000 semapv:UnspecifiedMatching -orphanet.ordo:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref UMLS:C1857332 semapv:UnspecifiedMatching -orphanet.ordo:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:H90.6 semapv:UnspecifiedMatching -orphanet.ordo:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref OMIM:304350 semapv:UnspecifiedMatching -orphanet.ordo:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1844680 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MeSH:D029593 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MedDRA:10057936 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching -orphanet.ordo:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 semapv:UnspecifiedMatching -orphanet.ordo:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref OMIM:608518 semapv:UnspecifiedMatching -orphanet.ordo:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref UMLS:C0796100 semapv:UnspecifiedMatching -orphanet.ordo:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311300 semapv:UnspecifiedMatching -orphanet.ordo:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C0265251 semapv:UnspecifiedMatching -orphanet.ordo:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538089 semapv:UnspecifiedMatching -orphanet.ordo:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref MeSH:C538089 semapv:UnspecifiedMatching -orphanet.ordo:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref OMIM:304120 semapv:UnspecifiedMatching -orphanet.ordo:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C1844696 semapv:UnspecifiedMatching -orphanet.ordo:90653 Stickler syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:90653 Stickler syndrome type 1 oboInOwl:hasDbXref MESH:C537492 semapv:UnspecifiedMatching -orphanet.ordo:90653 Stickler syndrome type 1 oboInOwl:hasDbXref MeSH:C537492 semapv:UnspecifiedMatching -orphanet.ordo:90653 Stickler syndrome type 1 oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching -orphanet.ordo:90653 Stickler syndrome type 1 oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching -orphanet.ordo:90653 Stickler syndrome type 1 oboInOwl:hasDbXref UMLS:C2020284 semapv:UnspecifiedMatching -orphanet.ordo:90654 Stickler syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:90654 Stickler syndrome type 2 oboInOwl:hasDbXref MESH:C537493 semapv:UnspecifiedMatching -orphanet.ordo:90654 Stickler syndrome type 2 oboInOwl:hasDbXref MeSH:C537493 semapv:UnspecifiedMatching -orphanet.ordo:90654 Stickler syndrome type 2 oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching -orphanet.ordo:90654 Stickler syndrome type 2 oboInOwl:hasDbXref UMLS:C1858084 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MESH:C537986 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MESH:C538078 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MeSH:C537986 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MeSH:C538078 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref OMIM:118300 semapv:UnspecifiedMatching -orphanet.ordo:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref UMLS:C2931686 semapv:UnspecifiedMatching -orphanet.ordo:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref OMIM:275200 semapv:UnspecifiedMatching -orphanet.ordo:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref OMIM:275100 semapv:UnspecifiedMatching -orphanet.ordo:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref MedDRA:10033662 semapv:UnspecifiedMatching -orphanet.ordo:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching -orphanet.ordo:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:312000 semapv:UnspecifiedMatching -orphanet.ordo:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref UMLS:C0242343 semapv:UnspecifiedMatching -orphanet.ordo:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching -orphanet.ordo:90771 Difference of sex development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching -orphanet.ordo:90771 Difference of sex development oboInOwl:hasDbXref MeSH:D012734 semapv:UnspecifiedMatching -orphanet.ordo:90771 Difference of sex development oboInOwl:hasDbXref MedDRA:10070597 semapv:UnspecifiedMatching -orphanet.ordo:90771 Difference of sex development oboInOwl:hasDbXref UMLS:C0036875 semapv:UnspecifiedMatching -orphanet.ordo:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref MESH:C537027 semapv:UnspecifiedMatching -orphanet.ordo:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref MeSH:C537027 semapv:UnspecifiedMatching -orphanet.ordo:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref OMIM:201710 semapv:UnspecifiedMatching -orphanet.ordo:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref UMLS:C0342474 semapv:UnspecifiedMatching -orphanet.ordo:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201810 semapv:UnspecifiedMatching -orphanet.ordo:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching -orphanet.ordo:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0268285 semapv:UnspecifiedMatching -orphanet.ordo:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching -orphanet.ordo:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C2936858 semapv:UnspecifiedMatching -orphanet.ordo:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535978 semapv:UnspecifiedMatching -orphanet.ordo:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MeSH:C535978 semapv:UnspecifiedMatching -orphanet.ordo:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MedDRA:10000002 semapv:UnspecifiedMatching -orphanet.ordo:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:202010 semapv:UnspecifiedMatching -orphanet.ordo:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0268292 semapv:UnspecifiedMatching -orphanet.ordo:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching -orphanet.ordo:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching -orphanet.ordo:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref UMLS:C0268285 semapv:UnspecifiedMatching -orphanet.ordo:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching -orphanet.ordo:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching -orphanet.ordo:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0268301 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref MeSH:D005600 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref MedDRA:10017324 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching -orphanet.ordo:908 Fragile X syndrome oboInOwl:hasDbXref UMLS:C0016667 semapv:UnspecifiedMatching -orphanet.ordo:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching -orphanet.ordo:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref MeSH:D019294 semapv:UnspecifiedMatching -orphanet.ordo:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching -orphanet.ordo:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS:C0238052 semapv:UnspecifiedMatching -orphanet.ordo:91 Aromatase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching -orphanet.ordo:91 Aromatase deficiency oboInOwl:hasDbXref MESH:C537436 semapv:UnspecifiedMatching -orphanet.ordo:91 Aromatase deficiency oboInOwl:hasDbXref MeSH:C537436 semapv:UnspecifiedMatching -orphanet.ordo:91 Aromatase deficiency oboInOwl:hasDbXref OMIM:613546 semapv:UnspecifiedMatching -orphanet.ordo:91 Aromatase deficiency oboInOwl:hasDbXref UMLS:C1960539 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref MESH:D014983 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref MeSH:D014983 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref MedDRA:10048220 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:194400 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278700 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278720 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278740 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:610651 semapv:UnspecifiedMatching -orphanet.ordo:910 Xeroderma pigmentosum oboInOwl:hasDbXref UMLS:C0043346 semapv:UnspecifiedMatching -orphanet.ordo:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -orphanet.ordo:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref OMIM:269840 semapv:UnspecifiedMatching -orphanet.ordo:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref UMLS:C2931299 semapv:UnspecifiedMatching -orphanet.ordo:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref ICD10:B34.0 semapv:UnspecifiedMatching -orphanet.ordo:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching -orphanet.ordo:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:610773 semapv:UnspecifiedMatching -orphanet.ordo:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref UMLS:C1835845 semapv:UnspecifiedMatching -orphanet.ordo:91131 DK1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:91131 DK1-CDG oboInOwl:hasDbXref OMIM:610768 semapv:UnspecifiedMatching -orphanet.ordo:91131 DK1-CDG oboInOwl:hasDbXref UMLS:C1835849 semapv:UnspecifiedMatching -orphanet.ordo:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching -orphanet.ordo:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:602400 semapv:UnspecifiedMatching -orphanet.ordo:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1835851 semapv:UnspecifiedMatching -orphanet.ordo:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref OMIM:610842 semapv:UnspecifiedMatching -orphanet.ordo:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref UMLS:C1835813 semapv:UnspecifiedMatching -orphanet.ordo:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching -orphanet.ordo:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref MedDRA:10027756 semapv:UnspecifiedMatching -orphanet.ordo:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref OMIM:123550 semapv:UnspecifiedMatching -orphanet.ordo:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C0340992 semapv:UnspecifiedMatching -orphanet.ordo:91139 Simple cryoglobulinemia oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching -orphanet.ordo:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref MESH:D015211 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref MeSH:D015211 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:214100 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:214110 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614859 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614862 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614866 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614870 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614872 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614876 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614882 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614883 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614886 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching -orphanet.ordo:912 Zellweger syndrome oboInOwl:hasDbXref UMLS:C0043459 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10:E16.4 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015043 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015408 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MeSH:D015043 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MeSH:D015408 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MedDRA:10017852 semapv:UnspecifiedMatching -orphanet.ordo:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref UMLS:C0043515 semapv:UnspecifiedMatching -orphanet.ordo:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C0346303 semapv:UnspecifiedMatching -orphanet.ordo:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref UMLS:C0346304 semapv:UnspecifiedMatching -orphanet.ordo:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0338078 semapv:UnspecifiedMatching -orphanet.ordo:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:91352 Germinoma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -orphanet.ordo:91352 Germinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1333813 semapv:UnspecifiedMatching -orphanet.ordo:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:91355 Sheehan syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:91355 Sheehan syndrome oboInOwl:hasDbXref MedDRA:10036297 semapv:UnspecifiedMatching -orphanet.ordo:91355 Sheehan syndrome oboInOwl:hasDbXref UMLS:C0242342 semapv:UnspecifiedMatching -orphanet.ordo:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching -orphanet.ordo:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching -orphanet.ordo:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching -orphanet.ordo:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref UMLS:C1290344 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref MedDRA:10019860 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619360 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619361 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619363 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619366 semapv:UnspecifiedMatching -orphanet.ordo:91378 Hereditary angioedema oboInOwl:hasDbXref UMLS:C0019243 semapv:UnspecifiedMatching -orphanet.ordo:91385 Acquired angioedema oboInOwl:hasDbXref MESH:C538173 semapv:UnspecifiedMatching -orphanet.ordo:91385 Acquired angioedema oboInOwl:hasDbXref MeSH:C538173 semapv:UnspecifiedMatching -orphanet.ordo:91385 Acquired angioedema oboInOwl:hasDbXref OMIM:300909 semapv:UnspecifiedMatching -orphanet.ordo:91385 Acquired angioedema oboInOwl:hasDbXref UMLS:C2931758 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:132900 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607087 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:611788 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:613780 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:614816 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:615436 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:615582 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:616166 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:617168 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:619656 semapv:UnspecifiedMatching -orphanet.ordo:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:619825 semapv:UnspecifiedMatching -orphanet.ordo:91396 Isolated cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:91396 Isolated cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching -orphanet.ordo:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref UMLS:C1302999 semapv:UnspecifiedMatching -orphanet.ordo:91411 Congenital ptosis oboInOwl:hasDbXref ICD10:Q10.0 semapv:UnspecifiedMatching -orphanet.ordo:91411 Congenital ptosis oboInOwl:hasDbXref MedDRA:10015996 semapv:UnspecifiedMatching -orphanet.ordo:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:178300 semapv:UnspecifiedMatching -orphanet.ordo:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:300245 semapv:UnspecifiedMatching -orphanet.ordo:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching -orphanet.ordo:91411 Congenital ptosis oboInOwl:hasDbXref UMLS:C0266573 semapv:UnspecifiedMatching -orphanet.ordo:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref MedDRA:10064583 semapv:UnspecifiedMatching -orphanet.ordo:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref OMIM:154600 semapv:UnspecifiedMatching -orphanet.ordo:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref UMLS:C0266521 semapv:UnspecifiedMatching -orphanet.ordo:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching -orphanet.ordo:91413 Congenital Horner syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching -orphanet.ordo:91413 Congenital Horner syndrome oboInOwl:hasDbXref UMLS:C1840475 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.6 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref MeSH:D018296 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref MedDRA:10035040 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref OMIM:132600 semapv:UnspecifiedMatching -orphanet.ordo:91414 Pilomatrixoma oboInOwl:hasDbXref UMLS:C0206711 semapv:UnspecifiedMatching -orphanet.ordo:91416 Isolated congenital alacrima oboInOwl:hasDbXref ICD10:Q10.6 semapv:UnspecifiedMatching -orphanet.ordo:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:103420 semapv:UnspecifiedMatching -orphanet.ordo:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:601549 semapv:UnspecifiedMatching -orphanet.ordo:91416 Isolated congenital alacrima oboInOwl:hasDbXref UMLS:C1863199 semapv:UnspecifiedMatching -orphanet.ordo:91481 Ring dermoid of cornea oboInOwl:hasDbXref ICD10:D31.1 semapv:UnspecifiedMatching -orphanet.ordo:91481 Ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 semapv:UnspecifiedMatching -orphanet.ordo:91481 Ring dermoid of cornea oboInOwl:hasDbXref MeSH:C535684 semapv:UnspecifiedMatching -orphanet.ordo:91481 Ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 semapv:UnspecifiedMatching -orphanet.ordo:91481 Ring dermoid of cornea oboInOwl:hasDbXref UMLS:C1867155 semapv:UnspecifiedMatching -orphanet.ordo:91483 Rieger anomaly oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:91483 Rieger anomaly oboInOwl:hasDbXref MedDRA:10059198 semapv:UnspecifiedMatching -orphanet.ordo:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:137600 semapv:UnspecifiedMatching -orphanet.ordo:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching -orphanet.ordo:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching -orphanet.ordo:91489 Isolated congenital megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -orphanet.ordo:91489 Isolated congenital megalocornea oboInOwl:hasDbXref OMIM:309300 semapv:UnspecifiedMatching -orphanet.ordo:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref ICD10:Q13.3 semapv:UnspecifiedMatching -orphanet.ordo:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref OMIM:181700 semapv:UnspecifiedMatching -orphanet.ordo:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref UMLS:C1866984 semapv:UnspecifiedMatching -orphanet.ordo:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115900 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:212500 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:302200 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601885 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604307 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605387 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605749 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609741 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610202 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610425 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610623 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611544 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611597 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614691 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615188 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615277 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching -orphanet.ordo:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching -orphanet.ordo:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref OMIM:216800 semapv:UnspecifiedMatching -orphanet.ordo:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref ICD10:Q14.0 semapv:UnspecifiedMatching -orphanet.ordo:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref MESH:D054514 semapv:UnspecifiedMatching -orphanet.ordo:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref MeSH:D054514 semapv:UnspecifiedMatching -orphanet.ordo:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:221900 semapv:UnspecifiedMatching -orphanet.ordo:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:611308 semapv:UnspecifiedMatching -orphanet.ordo:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C0266568 semapv:UnspecifiedMatching -orphanet.ordo:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 semapv:UnspecifiedMatching -orphanet.ordo:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref MeSH:C536677 semapv:UnspecifiedMatching -orphanet.ordo:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 semapv:UnspecifiedMatching -orphanet.ordo:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C1860405 semapv:UnspecifiedMatching -orphanet.ordo:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching -orphanet.ordo:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref OMIM:136480 semapv:UnspecifiedMatching -orphanet.ordo:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref UMLS:C1850996 semapv:UnspecifiedMatching -orphanet.ordo:915 Aarskog-Scott syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:915 Aarskog-Scott syndrome oboInOwl:hasDbXref MedDRA:10067148 semapv:UnspecifiedMatching -orphanet.ordo:915 Aarskog-Scott syndrome oboInOwl:hasDbXref OMIM:100050 semapv:UnspecifiedMatching -orphanet.ordo:915 Aarskog-Scott syndrome oboInOwl:hasDbXref OMIM:305400 semapv:UnspecifiedMatching -orphanet.ordo:915 Aarskog-Scott syndrome oboInOwl:hasDbXref UMLS:C0175701 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref ICD10:N10 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MESH:C536922 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MeSH:C536922 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MedDRA:10069034 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MedDRA:10069039 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref OMIM:607665 semapv:UnspecifiedMatching -orphanet.ordo:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref UMLS:C1843273 semapv:UnspecifiedMatching -orphanet.ordo:91546 Lyme disease oboInOwl:hasDbXref ICD10:A69.2 semapv:UnspecifiedMatching -orphanet.ordo:91546 Lyme disease oboInOwl:hasDbXref MESH:D008193 semapv:UnspecifiedMatching -orphanet.ordo:91546 Lyme disease oboInOwl:hasDbXref MeSH:D008193 semapv:UnspecifiedMatching -orphanet.ordo:91546 Lyme disease oboInOwl:hasDbXref MedDRA:10025169 semapv:UnspecifiedMatching -orphanet.ordo:91546 Lyme disease oboInOwl:hasDbXref UMLS:C0024198 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.0 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.1 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.9 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref MeSH:D012061 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref MedDRA:10038300 semapv:UnspecifiedMatching -orphanet.ordo:91547 Relapsing fever oboInOwl:hasDbXref UMLS:C0035021 semapv:UnspecifiedMatching -orphanet.ordo:916 Aase-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:916 Aase-Smith syndrome oboInOwl:hasDbXref MESH:C535332 semapv:UnspecifiedMatching -orphanet.ordo:916 Aase-Smith syndrome oboInOwl:hasDbXref MeSH:C535332 semapv:UnspecifiedMatching -orphanet.ordo:916 Aase-Smith syndrome oboInOwl:hasDbXref MedDRA:10063429 semapv:UnspecifiedMatching -orphanet.ordo:916 Aase-Smith syndrome oboInOwl:hasDbXref OMIM:147800 semapv:UnspecifiedMatching -orphanet.ordo:916 Aase-Smith syndrome oboInOwl:hasDbXref UMLS:C0220686 semapv:UnspecifiedMatching -orphanet.ordo:918 ABCD syndrome oboInOwl:hasDbXref MESH:C535334 semapv:UnspecifiedMatching -orphanet.ordo:918 ABCD syndrome oboInOwl:hasDbXref MeSH:C535334 semapv:UnspecifiedMatching -orphanet.ordo:918 ABCD syndrome oboInOwl:hasDbXref OMIM:600501 semapv:UnspecifiedMatching -orphanet.ordo:918 ABCD syndrome oboInOwl:hasDbXref UMLS:C1838099 semapv:UnspecifiedMatching -orphanet.ordo:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref MESH:D001171 semapv:UnspecifiedMatching -orphanet.ordo:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref MeSH:D001171 semapv:UnspecifiedMatching -orphanet.ordo:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref MedDRA:10059177 semapv:UnspecifiedMatching -orphanet.ordo:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3495559 semapv:UnspecifiedMatching -orphanet.ordo:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref MESH:C535557 semapv:UnspecifiedMatching -orphanet.ordo:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref MeSH:C535557 semapv:UnspecifiedMatching -orphanet.ordo:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref OMIM:200110 semapv:UnspecifiedMatching -orphanet.ordo:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS:C1860224 semapv:UnspecifiedMatching -orphanet.ordo:92050 Congenital tufting enteropathy oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching -orphanet.ordo:92050 Congenital tufting enteropathy oboInOwl:hasDbXref OMIM:613217 semapv:UnspecifiedMatching -orphanet.ordo:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MESH:C535559 semapv:UnspecifiedMatching -orphanet.ordo:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MeSH:C535559 semapv:UnspecifiedMatching -orphanet.ordo:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref OMIM:302905 semapv:UnspecifiedMatching -orphanet.ordo:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS:C1844862 semapv:UnspecifiedMatching -orphanet.ordo:922 Familial nasal acilia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching -orphanet.ordo:924 NON RARE IN EUROPE: Acanthosis nigricans oboInOwl:hasDbXref ICD10:L83 semapv:UnspecifiedMatching -orphanet.ordo:926 Acatalasemia oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching -orphanet.ordo:926 Acatalasemia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching -orphanet.ordo:926 Acatalasemia oboInOwl:hasDbXref UMLS:C0268419 semapv:UnspecifiedMatching -orphanet.ordo:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching -orphanet.ordo:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref OMIM:237310 semapv:UnspecifiedMatching -orphanet.ordo:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref UMLS:C0268543 semapv:UnspecifiedMatching -orphanet.ordo:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q39.5 semapv:UnspecifiedMatching -orphanet.ordo:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref MESH:C536010 semapv:UnspecifiedMatching -orphanet.ordo:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref MeSH:C536010 semapv:UnspecifiedMatching -orphanet.ordo:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref OMIM:200450 semapv:UnspecifiedMatching -orphanet.ordo:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1860212 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref MESH:C538402 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref MESH:D054880 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref MeSH:C538402 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref MeSH:D054880 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref MedDRA:10068220 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref OMIM:208400 semapv:UnspecifiedMatching -orphanet.ordo:93 Aspartylglucosaminuria oboInOwl:hasDbXref UMLS:C0268225 semapv:UnspecifiedMatching -orphanet.ordo:930 Idiopathic achalasia oboInOwl:hasDbXref ICD10:K22.0 semapv:UnspecifiedMatching -orphanet.ordo:930 Idiopathic achalasia oboInOwl:hasDbXref MESH:C536011 semapv:UnspecifiedMatching -orphanet.ordo:930 Idiopathic achalasia oboInOwl:hasDbXref MeSH:C536011 semapv:UnspecifiedMatching -orphanet.ordo:930 Idiopathic achalasia oboInOwl:hasDbXref MedDRA:10036669 semapv:UnspecifiedMatching -orphanet.ordo:930 Idiopathic achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching -orphanet.ordo:930 Idiopathic achalasia oboInOwl:hasDbXref UMLS:C0859976 semapv:UnspecifiedMatching -orphanet.ordo:931 Acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:931 Acheiropodia oboInOwl:hasDbXref MESH:C536014 semapv:UnspecifiedMatching -orphanet.ordo:931 Acheiropodia oboInOwl:hasDbXref MeSH:C536014 semapv:UnspecifiedMatching -orphanet.ordo:931 Acheiropodia oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching -orphanet.ordo:931 Acheiropodia oboInOwl:hasDbXref UMLS:C0265559 semapv:UnspecifiedMatching -orphanet.ordo:93100 Renal agenesis, unilateral oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching -orphanet.ordo:93100 Renal agenesis, unilateral oboInOwl:hasDbXref MedDRA:10053624 semapv:UnspecifiedMatching -orphanet.ordo:93100 Renal agenesis, unilateral oboInOwl:hasDbXref OMIM:617805 semapv:UnspecifiedMatching -orphanet.ordo:93100 Renal agenesis, unilateral oboInOwl:hasDbXref UMLS:C0266294 semapv:UnspecifiedMatching -orphanet.ordo:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching -orphanet.ordo:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching -orphanet.ordo:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.5 semapv:UnspecifiedMatching -orphanet.ordo:93101 Renal hypoplasia oboInOwl:hasDbXref MedDRA:10049102 semapv:UnspecifiedMatching -orphanet.ordo:93101 Renal hypoplasia oboInOwl:hasDbXref UMLS:C0266295 semapv:UnspecifiedMatching -orphanet.ordo:93108 Renal dysplasia oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching -orphanet.ordo:93108 Renal dysplasia oboInOwl:hasDbXref UMLS:C3536714 semapv:UnspecifiedMatching -orphanet.ordo:93109 Congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:93110 Posterior urethral valve oboInOwl:hasDbXref ICD10:Q64.2 semapv:UnspecifiedMatching -orphanet.ordo:93110 Posterior urethral valve oboInOwl:hasDbXref MedDRA:10036369 semapv:UnspecifiedMatching -orphanet.ordo:93110 Posterior urethral valve oboInOwl:hasDbXref OMIM:618612 semapv:UnspecifiedMatching -orphanet.ordo:93110 Posterior urethral valve oboInOwl:hasDbXref UMLS:C0238506 semapv:UnspecifiedMatching -orphanet.ordo:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching -orphanet.ordo:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C535520 semapv:UnspecifiedMatching -orphanet.ordo:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MeSH:C535520 semapv:UnspecifiedMatching -orphanet.ordo:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching -orphanet.ordo:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C0431693 semapv:UnspecifiedMatching -orphanet.ordo:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref OMIM:614455 semapv:UnspecifiedMatching -orphanet.ordo:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching -orphanet.ordo:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching -orphanet.ordo:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:277440 semapv:UnspecifiedMatching -orphanet.ordo:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:600785 semapv:UnspecifiedMatching -orphanet.ordo:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:619073 semapv:UnspecifiedMatching -orphanet.ordo:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref UMLS:C3536983 semapv:UnspecifiedMatching -orphanet.ordo:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching -orphanet.ordo:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching -orphanet.ordo:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref UMLS:C0431697 semapv:UnspecifiedMatching -orphanet.ordo:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching -orphanet.ordo:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref UMLS:C0431698 semapv:UnspecifiedMatching -orphanet.ordo:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:932 Achondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching -orphanet.ordo:932 Achondrogenesis oboInOwl:hasDbXref MedDRA:10066122 semapv:UnspecifiedMatching -orphanet.ordo:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching -orphanet.ordo:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching -orphanet.ordo:932 Achondrogenesis oboInOwl:hasDbXref OMIM:600972 semapv:UnspecifiedMatching -orphanet.ordo:932 Achondrogenesis oboInOwl:hasDbXref UMLS:C0001079 semapv:UnspecifiedMatching -orphanet.ordo:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref OMIM:300623 semapv:UnspecifiedMatching -orphanet.ordo:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref UMLS:C1839780 semapv:UnspecifiedMatching -orphanet.ordo:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching -orphanet.ordo:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching -orphanet.ordo:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching -orphanet.ordo:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching -orphanet.ordo:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching -orphanet.ordo:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2677099 semapv:UnspecifiedMatching -orphanet.ordo:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref OMIM:607161 semapv:UnspecifiedMatching -orphanet.ordo:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C1846671 semapv:UnspecifiedMatching -orphanet.ordo:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref OMIM:269860 semapv:UnspecifiedMatching -orphanet.ordo:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref UMLS:C0432198 semapv:UnspecifiedMatching -orphanet.ordo:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref OMIM:263520 semapv:UnspecifiedMatching -orphanet.ordo:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching -orphanet.ordo:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref UMLS:C0024507 semapv:UnspecifiedMatching -orphanet.ordo:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching -orphanet.ordo:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref UMLS:C0036069 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref MESH:C537602 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref MeSH:C537602 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:615503 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching -orphanet.ordo:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref UMLS:C0432197 semapv:UnspecifiedMatching -orphanet.ordo:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching -orphanet.ordo:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:156830 semapv:UnspecifiedMatching -orphanet.ordo:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching -orphanet.ordo:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref UMLS:C1300257 semapv:UnspecifiedMatching -orphanet.ordo:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref MESH:C536506 semapv:UnspecifiedMatching -orphanet.ordo:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref MeSH:C536506 semapv:UnspecifiedMatching -orphanet.ordo:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching -orphanet.ordo:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref UMLS:C1848865 semapv:UnspecifiedMatching -orphanet.ordo:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching -orphanet.ordo:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching -orphanet.ordo:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MeSH:D005359 semapv:UnspecifiedMatching -orphanet.ordo:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MedDRA:10036120 semapv:UnspecifiedMatching -orphanet.ordo:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref UMLS:C0016065 semapv:UnspecifiedMatching -orphanet.ordo:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching -orphanet.ordo:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref MESH:D005358 semapv:UnspecifiedMatching -orphanet.ordo:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref MeSH:D005358 semapv:UnspecifiedMatching -orphanet.ordo:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref UMLS:C0016064 semapv:UnspecifiedMatching -orphanet.ordo:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref OMIM:604864 semapv:UnspecifiedMatching -orphanet.ordo:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref MESH:C535789 semapv:UnspecifiedMatching -orphanet.ordo:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref MeSH:C535789 semapv:UnspecifiedMatching -orphanet.ordo:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref UMLS:C1837657 semapv:UnspecifiedMatching -orphanet.ordo:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref OMIM:612847 semapv:UnspecifiedMatching -orphanet.ordo:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref UMLS:C2748515 semapv:UnspecifiedMatching -orphanet.ordo:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref OMIM:608361 semapv:UnspecifiedMatching -orphanet.ordo:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref UMLS:C1842149 semapv:UnspecifiedMatching -orphanet.ordo:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:184100 semapv:UnspecifiedMatching -orphanet.ordo:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:271600 semapv:UnspecifiedMatching -orphanet.ordo:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:313400 semapv:UnspecifiedMatching -orphanet.ordo:93292 Adenoma of pancreas oboInOwl:hasDbXref ICD10:D13.6 semapv:UnspecifiedMatching -orphanet.ordo:93292 Adenoma of pancreas oboInOwl:hasDbXref MESH:C538110 semapv:UnspecifiedMatching -orphanet.ordo:93292 Adenoma of pancreas oboInOwl:hasDbXref MeSH:C538110 semapv:UnspecifiedMatching -orphanet.ordo:93292 Adenoma of pancreas oboInOwl:hasDbXref MedDRA:10058902 semapv:UnspecifiedMatching -orphanet.ordo:93292 Adenoma of pancreas oboInOwl:hasDbXref UMLS:C1142432 semapv:UnspecifiedMatching -orphanet.ordo:93293 Okihiro syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93293 Okihiro syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching -orphanet.ordo:93293 Okihiro syndrome oboInOwl:hasDbXref UMLS:C1623209 semapv:UnspecifiedMatching -orphanet.ordo:93296 Achondrogenesis type 2 oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching -orphanet.ordo:93296 Achondrogenesis type 2 oboInOwl:hasDbXref MESH:C536017 semapv:UnspecifiedMatching -orphanet.ordo:93296 Achondrogenesis type 2 oboInOwl:hasDbXref MeSH:C536017 semapv:UnspecifiedMatching -orphanet.ordo:93296 Achondrogenesis type 2 oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching -orphanet.ordo:93296 Achondrogenesis type 2 oboInOwl:hasDbXref UMLS:C0220685 semapv:UnspecifiedMatching -orphanet.ordo:93297 Hypochondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching -orphanet.ordo:93297 Hypochondrogenesis oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching -orphanet.ordo:93297 Hypochondrogenesis oboInOwl:hasDbXref UMLS:C0542428 semapv:UnspecifiedMatching -orphanet.ordo:93298 Achondrogenesis type 1B oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching -orphanet.ordo:93298 Achondrogenesis type 1B oboInOwl:hasDbXref MESH:C536016 semapv:UnspecifiedMatching -orphanet.ordo:93298 Achondrogenesis type 1B oboInOwl:hasDbXref MeSH:C536016 semapv:UnspecifiedMatching -orphanet.ordo:93298 Achondrogenesis type 1B oboInOwl:hasDbXref OMIM:600972 semapv:UnspecifiedMatching -orphanet.ordo:93298 Achondrogenesis type 1B oboInOwl:hasDbXref UMLS:C0265274 semapv:UnspecifiedMatching -orphanet.ordo:93299 Achondrogenesis type 1A oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching -orphanet.ordo:93299 Achondrogenesis type 1A oboInOwl:hasDbXref MESH:C536015 semapv:UnspecifiedMatching -orphanet.ordo:93299 Achondrogenesis type 1A oboInOwl:hasDbXref MeSH:C536015 semapv:UnspecifiedMatching -orphanet.ordo:93299 Achondrogenesis type 1A oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching -orphanet.ordo:93299 Achondrogenesis type 1A oboInOwl:hasDbXref UMLS:C0265273 semapv:UnspecifiedMatching -orphanet.ordo:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -orphanet.ordo:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching -orphanet.ordo:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -orphanet.ordo:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching -orphanet.ordo:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching -orphanet.ordo:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -orphanet.ordo:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching -orphanet.ordo:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -orphanet.ordo:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref OMIM:113500 semapv:UnspecifiedMatching -orphanet.ordo:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref UMLS:C0432227 semapv:UnspecifiedMatching -orphanet.ordo:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref MESH:C535504 semapv:UnspecifiedMatching -orphanet.ordo:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref MeSH:C535504 semapv:UnspecifiedMatching -orphanet.ordo:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching -orphanet.ordo:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref UMLS:C1847593 semapv:UnspecifiedMatching -orphanet.ordo:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref MESH:C535501 semapv:UnspecifiedMatching -orphanet.ordo:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref MeSH:C535501 semapv:UnspecifiedMatching -orphanet.ordo:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref OMIM:132400 semapv:UnspecifiedMatching -orphanet.ordo:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref UMLS:C1838280 semapv:UnspecifiedMatching -orphanet.ordo:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref MESH:C535505 semapv:UnspecifiedMatching -orphanet.ordo:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref MeSH:C535505 semapv:UnspecifiedMatching -orphanet.ordo:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref OMIM:607078 semapv:UnspecifiedMatching -orphanet.ordo:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref UMLS:C1846843 semapv:UnspecifiedMatching -orphanet.ordo:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref MESH:C535797 semapv:UnspecifiedMatching -orphanet.ordo:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref MeSH:C535797 semapv:UnspecifiedMatching -orphanet.ordo:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref OMIM:184252 semapv:UnspecifiedMatching -orphanet.ordo:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref UMLS:C0265280 semapv:UnspecifiedMatching -orphanet.ordo:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref MESH:C535793 semapv:UnspecifiedMatching -orphanet.ordo:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref MeSH:C535793 semapv:UnspecifiedMatching -orphanet.ordo:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref OMIM:184255 semapv:UnspecifiedMatching -orphanet.ordo:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref UMLS:C0432221 semapv:UnspecifiedMatching -orphanet.ordo:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref OMIM:184253 semapv:UnspecifiedMatching -orphanet.ordo:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref UMLS:C1866688 semapv:UnspecifiedMatching -orphanet.ordo:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref MESH:C535798 semapv:UnspecifiedMatching -orphanet.ordo:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref MeSH:C535798 semapv:UnspecifiedMatching -orphanet.ordo:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching -orphanet.ordo:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref UMLS:C1855229 semapv:UnspecifiedMatching -orphanet.ordo:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching -orphanet.ordo:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching -orphanet.ordo:93322 Tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching -orphanet.ordo:93322 Tibial hemimelia oboInOwl:hasDbXref OMIM:275220 semapv:UnspecifiedMatching -orphanet.ordo:93322 Tibial hemimelia oboInOwl:hasDbXref UMLS:C0265633 semapv:UnspecifiedMatching -orphanet.ordo:93323 Fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching -orphanet.ordo:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching -orphanet.ordo:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C1855648 semapv:UnspecifiedMatching -orphanet.ordo:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching -orphanet.ordo:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching -orphanet.ordo:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref UMLS:C2750355 semapv:UnspecifiedMatching -orphanet.ordo:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching -orphanet.ordo:93333 Pelviscapular dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:93333 Pelviscapular dysplasia oboInOwl:hasDbXref MESH:C535550 semapv:UnspecifiedMatching -orphanet.ordo:93333 Pelviscapular dysplasia oboInOwl:hasDbXref MeSH:C535550 semapv:UnspecifiedMatching -orphanet.ordo:93333 Pelviscapular dysplasia oboInOwl:hasDbXref OMIM:260660 semapv:UnspecifiedMatching -orphanet.ordo:93333 Pelviscapular dysplasia oboInOwl:hasDbXref UMLS:C1850040 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:263450 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:602085 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:607324 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:608562 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:615226 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:618219 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:618498 semapv:UnspecifiedMatching -orphanet.ordo:93334 Postaxial polydactyly type A oboInOwl:hasDbXref UMLS:C3887487 semapv:UnspecifiedMatching -orphanet.ordo:93335 Postaxial polydactyly type B oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching -orphanet.ordo:93335 Postaxial polydactyly type B oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching -orphanet.ordo:93335 Postaxial polydactyly type B oboInOwl:hasDbXref UMLS:C1868120 semapv:UnspecifiedMatching -orphanet.ordo:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching -orphanet.ordo:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching -orphanet.ordo:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref UMLS:C1868114 semapv:UnspecifiedMatching -orphanet.ordo:93337 Polydactyly of an index finger oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching -orphanet.ordo:93337 Polydactyly of an index finger oboInOwl:hasDbXref OMIM:174600 semapv:UnspecifiedMatching -orphanet.ordo:93337 Polydactyly of an index finger oboInOwl:hasDbXref UMLS:C1868113 semapv:UnspecifiedMatching -orphanet.ordo:93338 Polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching -orphanet.ordo:93338 Polysyndactyly oboInOwl:hasDbXref MedDRA:10063143 semapv:UnspecifiedMatching -orphanet.ordo:93338 Polysyndactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching -orphanet.ordo:93338 Polysyndactyly oboInOwl:hasDbXref UMLS:C0265553 semapv:UnspecifiedMatching -orphanet.ordo:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching -orphanet.ordo:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref OMIM:174400 semapv:UnspecifiedMatching -orphanet.ordo:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref UMLS:C1395852 semapv:UnspecifiedMatching -orphanet.ordo:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching -orphanet.ordo:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref UMLS:C0700635 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref MESH:C538256 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref MeSH:C538256 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:607095 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:617396 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:618853 semapv:UnspecifiedMatching -orphanet.ordo:93347 Anauxetic dysplasia oboInOwl:hasDbXref UMLS:C1846796 semapv:UnspecifiedMatching -orphanet.ordo:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 semapv:UnspecifiedMatching -orphanet.ordo:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1848097 semapv:UnspecifiedMatching -orphanet.ordo:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref OMIM:271650 semapv:UnspecifiedMatching -orphanet.ordo:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref UMLS:C0432213 semapv:UnspecifiedMatching -orphanet.ordo:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref OMIM:602557 semapv:UnspecifiedMatching -orphanet.ordo:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref UMLS:C1865185 semapv:UnspecifiedMatching -orphanet.ordo:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching -orphanet.ordo:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref UMLS:C1865832 semapv:UnspecifiedMatching -orphanet.ordo:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref OMIM:271510 semapv:UnspecifiedMatching -orphanet.ordo:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref UMLS:C1300260 semapv:UnspecifiedMatching -orphanet.ordo:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref OMIM:271665 semapv:UnspecifiedMatching -orphanet.ordo:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref UMLS:C1849011 semapv:UnspecifiedMatching -orphanet.ordo:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref MESH:C535784 semapv:UnspecifiedMatching -orphanet.ordo:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref MeSH:C535784 semapv:UnspecifiedMatching -orphanet.ordo:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref OMIM:603546 semapv:UnspecifiedMatching -orphanet.ordo:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref UMLS:C1863732 semapv:UnspecifiedMatching -orphanet.ordo:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching -orphanet.ordo:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MESH:C537145 semapv:UnspecifiedMatching -orphanet.ordo:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MeSH:C537145 semapv:UnspecifiedMatching -orphanet.ordo:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MedDRA:10068704 semapv:UnspecifiedMatching -orphanet.ordo:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching -orphanet.ordo:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref UMLS:C1809471 semapv:UnspecifiedMatching -orphanet.ordo:93382 Brachydactyly type A6 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93382 Brachydactyly type A6 oboInOwl:hasDbXref MESH:C537092 semapv:UnspecifiedMatching -orphanet.ordo:93382 Brachydactyly type A6 oboInOwl:hasDbXref MeSH:C537092 semapv:UnspecifiedMatching -orphanet.ordo:93382 Brachydactyly type A6 oboInOwl:hasDbXref OMIM:112910 semapv:UnspecifiedMatching -orphanet.ordo:93382 Brachydactyly type A6 oboInOwl:hasDbXref UMLS:C1862130 semapv:UnspecifiedMatching -orphanet.ordo:93383 Brachydactyly type B oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93383 Brachydactyly type B oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching -orphanet.ordo:93383 Brachydactyly type B oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching -orphanet.ordo:93383 Brachydactyly type B oboInOwl:hasDbXref UMLS:C1300267 semapv:UnspecifiedMatching -orphanet.ordo:93384 Brachydactyly type C oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93384 Brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:UnspecifiedMatching -orphanet.ordo:93384 Brachydactyly type C oboInOwl:hasDbXref MeSH:C537093 semapv:UnspecifiedMatching -orphanet.ordo:93384 Brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching -orphanet.ordo:93384 Brachydactyly type C oboInOwl:hasDbXref UMLS:C1862103 semapv:UnspecifiedMatching -orphanet.ordo:93385 NON RARE IN EUROPE: Brachydactyly type D oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93387 Brachydactyly type E oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93387 Brachydactyly type E oboInOwl:hasDbXref OMIM:113300 semapv:UnspecifiedMatching -orphanet.ordo:93387 Brachydactyly type E oboInOwl:hasDbXref OMIM:613382 semapv:UnspecifiedMatching -orphanet.ordo:93387 Brachydactyly type E oboInOwl:hasDbXref UMLS:C0265312 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref MESH:C537088 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref MeSH:C537088 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:112500 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:607004 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:615072 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:616849 semapv:UnspecifiedMatching -orphanet.ordo:93388 Brachydactyly type A1 oboInOwl:hasDbXref UMLS:C1862151 semapv:UnspecifiedMatching -orphanet.ordo:93389 Brachydactyly type A5 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93389 Brachydactyly type A5 oboInOwl:hasDbXref UMLS:C1862138 semapv:UnspecifiedMatching -orphanet.ordo:93393 NON RARE IN EUROPE: Brachydactyly type A3 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93394 Brachydactyly type A4 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93394 Brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching -orphanet.ordo:93394 Brachydactyly type A4 oboInOwl:hasDbXref UMLS:C1862139 semapv:UnspecifiedMatching -orphanet.ordo:93395 Ballard syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93395 Ballard syndrome oboInOwl:hasDbXref OMIM:112440 semapv:UnspecifiedMatching -orphanet.ordo:93395 Ballard syndrome oboInOwl:hasDbXref UMLS:C1862163 semapv:UnspecifiedMatching -orphanet.ordo:93396 Brachydactyly type A2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93396 Brachydactyly type A2 oboInOwl:hasDbXref MESH:C537089 semapv:UnspecifiedMatching -orphanet.ordo:93396 Brachydactyly type A2 oboInOwl:hasDbXref MeSH:C537089 semapv:UnspecifiedMatching -orphanet.ordo:93396 Brachydactyly type A2 oboInOwl:hasDbXref OMIM:112600 semapv:UnspecifiedMatching -orphanet.ordo:93396 Brachydactyly type A2 oboInOwl:hasDbXref UMLS:C1832702 semapv:UnspecifiedMatching -orphanet.ordo:93397 Brachydactyly type A7 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93398 Genochondromatosis type 2 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching -orphanet.ordo:93398 Genochondromatosis type 2 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching -orphanet.ordo:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching -orphanet.ordo:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching -orphanet.ordo:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching -orphanet.ordo:93402 Syndactyly type 1 oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching -orphanet.ordo:93402 Syndactyly type 1 oboInOwl:hasDbXref UMLS:C1861380 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref MESH:C538153 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref MeSH:C538153 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching -orphanet.ordo:93403 Syndactyly type 2 oboInOwl:hasDbXref UMLS:C2699746 semapv:UnspecifiedMatching -orphanet.ordo:93404 Syndactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching -orphanet.ordo:93404 Syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching -orphanet.ordo:93404 Syndactyly type 3 oboInOwl:hasDbXref MeSH:C538154 semapv:UnspecifiedMatching -orphanet.ordo:93404 Syndactyly type 3 oboInOwl:hasDbXref OMIM:186100 semapv:UnspecifiedMatching -orphanet.ordo:93404 Syndactyly type 3 oboInOwl:hasDbXref UMLS:C1861366 semapv:UnspecifiedMatching -orphanet.ordo:93405 Syndactyly type 4 oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching -orphanet.ordo:93405 Syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching -orphanet.ordo:93405 Syndactyly type 4 oboInOwl:hasDbXref UMLS:C1861355 semapv:UnspecifiedMatching -orphanet.ordo:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching -orphanet.ordo:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching -orphanet.ordo:93406 Syndactyly type 5 oboInOwl:hasDbXref MESH:C538155 semapv:UnspecifiedMatching -orphanet.ordo:93406 Syndactyly type 5 oboInOwl:hasDbXref MeSH:C538155 semapv:UnspecifiedMatching -orphanet.ordo:93406 Syndactyly type 5 oboInOwl:hasDbXref OMIM:186300 semapv:UnspecifiedMatching -orphanet.ordo:93406 Syndactyly type 5 oboInOwl:hasDbXref UMLS:C1861348 semapv:UnspecifiedMatching -orphanet.ordo:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -orphanet.ordo:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref OMIM:610713 semapv:UnspecifiedMatching -orphanet.ordo:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref OMIM:617405 semapv:UnspecifiedMatching -orphanet.ordo:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref UMLS:C0432195 semapv:UnspecifiedMatching -orphanet.ordo:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MESH:C535658 semapv:UnspecifiedMatching -orphanet.ordo:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MeSH:C535658 semapv:UnspecifiedMatching -orphanet.ordo:93437 Acromesomelic dysplasia oboInOwl:hasDbXref UMLS:C0265278 semapv:UnspecifiedMatching -orphanet.ordo:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching -orphanet.ordo:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:620076 semapv:UnspecifiedMatching -orphanet.ordo:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref UMLS:C0432238 semapv:UnspecifiedMatching -orphanet.ordo:93442 Chondrodysplasia punctata oboInOwl:hasDbXref MESH:D002806 semapv:UnspecifiedMatching -orphanet.ordo:93442 Chondrodysplasia punctata oboInOwl:hasDbXref MeSH:D002806 semapv:UnspecifiedMatching -orphanet.ordo:93442 Chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0008445 semapv:UnspecifiedMatching -orphanet.ordo:93443 Neonatal osteosclerotic dysplasia oboInOwl:hasDbXref UMLS:C1300205 semapv:UnspecifiedMatching -orphanet.ordo:93460 Overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:93473 Hurler syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching -orphanet.ordo:93473 Hurler syndrome oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching -orphanet.ordo:93473 Hurler syndrome oboInOwl:hasDbXref UMLS:C0086795 semapv:UnspecifiedMatching -orphanet.ordo:93474 Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching -orphanet.ordo:93474 Scheie syndrome oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching -orphanet.ordo:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching -orphanet.ordo:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref MedDRA:10056916 semapv:UnspecifiedMatching -orphanet.ordo:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching -orphanet.ordo:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref UMLS:C0086431 semapv:UnspecifiedMatching -orphanet.ordo:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D82.2 semapv:UnspecifiedMatching -orphanet.ordo:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref MESH:C536020 semapv:UnspecifiedMatching -orphanet.ordo:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref MeSH:C536020 semapv:UnspecifiedMatching -orphanet.ordo:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref OMIM:200900 semapv:UnspecifiedMatching -orphanet.ordo:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C1860168 semapv:UnspecifiedMatching -orphanet.ordo:93545 Renal or urinary tract malformation oboInOwl:hasDbXref UMLS:C1968949 semapv:UnspecifiedMatching -orphanet.ordo:93548 Glomerular disease oboInOwl:hasDbXref UMLS:C0268731 semapv:UnspecifiedMatching -orphanet.ordo:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching -orphanet.ordo:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching -orphanet.ordo:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching -orphanet.ordo:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching -orphanet.ordo:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching -orphanet.ordo:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching -orphanet.ordo:93556 Heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:93557 Light and heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:93558 Light chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -orphanet.ordo:93558 Light chain deposition disease oboInOwl:hasDbXref UMLS:C0238239 semapv:UnspecifiedMatching -orphanet.ordo:93559 C3 deposition glomerulonephritis without proliferation oboInOwl:hasDbXref ICD10:NO3.5 semapv:UnspecifiedMatching -orphanet.ordo:93560 AApoAI amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:93561 ALys amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:93562 AFib amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching -orphanet.ordo:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching -orphanet.ordo:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 semapv:UnspecifiedMatching -orphanet.ordo:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MedDRA:10068240 semapv:UnspecifiedMatching -orphanet.ordo:93569 Polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C0032533 semapv:UnspecifiedMatching -orphanet.ordo:93571 Dense deposit disease oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching -orphanet.ordo:93571 Dense deposit disease oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching -orphanet.ordo:93571 Dense deposit disease oboInOwl:hasDbXref MeSH:D015432 semapv:UnspecifiedMatching -orphanet.ordo:93571 Dense deposit disease oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching -orphanet.ordo:93571 Dense deposit disease oboInOwl:hasDbXref UMLS:C0268743 semapv:UnspecifiedMatching -orphanet.ordo:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MESH:D057049 semapv:UnspecifiedMatching -orphanet.ordo:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MeSH:D057049 semapv:UnspecifiedMatching -orphanet.ordo:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MedDRA:10043645 semapv:UnspecifiedMatching -orphanet.ordo:93573 Thrombotic microangiopathy oboInOwl:hasDbXref UMLS:C2717961 semapv:UnspecifiedMatching -orphanet.ordo:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -orphanet.ordo:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching -orphanet.ordo:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching -orphanet.ordo:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching -orphanet.ordo:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C1268935 semapv:UnspecifiedMatching -orphanet.ordo:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching -orphanet.ordo:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:C536901 semapv:UnspecifiedMatching -orphanet.ordo:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MeSH:C536901 semapv:UnspecifiedMatching -orphanet.ordo:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C2584778 semapv:UnspecifiedMatching -orphanet.ordo:93589 Late-onset nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:604387 semapv:UnspecifiedMatching -orphanet.ordo:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:613159 semapv:UnspecifiedMatching -orphanet.ordo:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching -orphanet.ordo:93591 Infantile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:93591 Infantile nephronophthisis oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching -orphanet.ordo:93591 Infantile nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching -orphanet.ordo:93592 Juvenile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching -orphanet.ordo:93592 Juvenile nephronophthisis oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching -orphanet.ordo:93592 Juvenile nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching -orphanet.ordo:93592 Juvenile nephronophthisis oboInOwl:hasDbXref UMLS:C1855681 semapv:UnspecifiedMatching -orphanet.ordo:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching -orphanet.ordo:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref MeSH:C536414 semapv:UnspecifiedMatching -orphanet.ordo:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching -orphanet.ordo:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS:C0268164 semapv:UnspecifiedMatching -orphanet.ordo:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching -orphanet.ordo:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS:C0268165 semapv:UnspecifiedMatching -orphanet.ordo:936 Succinic acidemia oboInOwl:hasDbXref OMIM:600335 semapv:UnspecifiedMatching -orphanet.ordo:936 Succinic acidemia oboInOwl:hasDbXref UMLS:C1838243 semapv:UnspecifiedMatching -orphanet.ordo:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching -orphanet.ordo:93601 Xanthinuria type I oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:93601 Xanthinuria type I oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching -orphanet.ordo:93601 Xanthinuria type I oboInOwl:hasDbXref UMLS:C0268118 semapv:UnspecifiedMatching -orphanet.ordo:93602 Xanthinuria type II oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:93602 Xanthinuria type II oboInOwl:hasDbXref OMIM:603592 semapv:UnspecifiedMatching -orphanet.ordo:93602 Xanthinuria type II oboInOwl:hasDbXref UMLS:C1863688 semapv:UnspecifiedMatching -orphanet.ordo:93603 Rare renal tubular disease oboInOwl:hasDbXref UMLS:C0151747 semapv:UnspecifiedMatching -orphanet.ordo:93605 Bartter syndrome type 3 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -orphanet.ordo:93605 Bartter syndrome type 3 oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching -orphanet.ordo:93605 Bartter syndrome type 3 oboInOwl:hasDbXref UMLS:C1846343 semapv:UnspecifiedMatching -orphanet.ordo:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching -orphanet.ordo:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching -orphanet.ordo:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS:C1845202 semapv:UnspecifiedMatching -orphanet.ordo:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:604278 semapv:UnspecifiedMatching -orphanet.ordo:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1970309 semapv:UnspecifiedMatching -orphanet.ordo:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref MESH:C538565 semapv:UnspecifiedMatching -orphanet.ordo:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref MeSH:C538565 semapv:UnspecifiedMatching -orphanet.ordo:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref OMIM:179800 semapv:UnspecifiedMatching -orphanet.ordo:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C2931885 semapv:UnspecifiedMatching -orphanet.ordo:93609 Autosomal recessive distal renal tubular acidosis without deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref OMIM:611590 semapv:UnspecifiedMatching -orphanet.ordo:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref UMLS:C1969038 semapv:UnspecifiedMatching -orphanet.ordo:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref UMLS:C0403554 semapv:UnspecifiedMatching -orphanet.ordo:93612 Cystinuria type A oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:93612 Cystinuria type A oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching -orphanet.ordo:93612 Cystinuria type A oboInOwl:hasDbXref UMLS:C1857388 semapv:UnspecifiedMatching -orphanet.ordo:93613 Cystinuria type B oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching -orphanet.ordo:93613 Cystinuria type B oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching -orphanet.ordo:93613 Cystinuria type B oboInOwl:hasDbXref UMLS:C1857389 semapv:UnspecifiedMatching -orphanet.ordo:93616 Hemoglobin H disease oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:93616 Hemoglobin H disease oboInOwl:hasDbXref MedDRA:10063435 semapv:UnspecifiedMatching -orphanet.ordo:93616 Hemoglobin H disease oboInOwl:hasDbXref OMIM:613978 semapv:UnspecifiedMatching -orphanet.ordo:93616 Hemoglobin H disease oboInOwl:hasDbXref UMLS:C3161174 semapv:UnspecifiedMatching -orphanet.ordo:93619 Rare renal tumor oboInOwl:hasDbXref UMLS:C0022665 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref MESH:C538212 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref MeSH:C538212 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:300554 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:308990 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:310468 semapv:UnspecifiedMatching -orphanet.ordo:93622 Dent disease type 1 oboInOwl:hasDbXref UMLS:C1848336 semapv:UnspecifiedMatching -orphanet.ordo:93623 Dent disease type 2 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:93623 Dent disease type 2 oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching -orphanet.ordo:93623 Dent disease type 2 oboInOwl:hasDbXref UMLS:C1845167 semapv:UnspecifiedMatching -orphanet.ordo:93665 Autoinflammatory syndrome oboInOwl:hasDbXref MedDRA:10072220 semapv:UnspecifiedMatching -orphanet.ordo:93665 Autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C3267073 semapv:UnspecifiedMatching -orphanet.ordo:93672 Juvenile dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching -orphanet.ordo:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MESH:C538250 semapv:UnspecifiedMatching -orphanet.ordo:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MeSH:C538250 semapv:UnspecifiedMatching -orphanet.ordo:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MedDRA:10008521 semapv:UnspecifiedMatching -orphanet.ordo:93672 Juvenile dermatomyositis oboInOwl:hasDbXref UMLS:C0263666 semapv:UnspecifiedMatching -orphanet.ordo:93685 Unicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching -orphanet.ordo:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -orphanet.ordo:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref MESH:C535312 semapv:UnspecifiedMatching -orphanet.ordo:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref MeSH:C535312 semapv:UnspecifiedMatching -orphanet.ordo:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref OMIM:236795 semapv:UnspecifiedMatching -orphanet.ordo:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref UMLS:C0342737 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref MESH:C536641 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref MeSH:C536641 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:162091 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:162260 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:615670 semapv:UnspecifiedMatching -orphanet.ordo:93921 Full schwannomatosis oboInOwl:hasDbXref UMLS:C1335929 semapv:UnspecifiedMatching -orphanet.ordo:93924 Lobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:93924 Lobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0431362 semapv:UnspecifiedMatching -orphanet.ordo:93925 Alobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:301043 semapv:UnspecifiedMatching -orphanet.ordo:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:93925 Alobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0431363 semapv:UnspecifiedMatching -orphanet.ordo:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching -orphanet.ordo:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -orphanet.ordo:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -orphanet.ordo:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -orphanet.ordo:93928 Isolated epispadias oboInOwl:hasDbXref ICD10:Q64.0 semapv:UnspecifiedMatching -orphanet.ordo:93928 Isolated epispadias oboInOwl:hasDbXref MESH:D004842 semapv:UnspecifiedMatching -orphanet.ordo:93928 Isolated epispadias oboInOwl:hasDbXref MeSH:D004842 semapv:UnspecifiedMatching -orphanet.ordo:93928 Isolated epispadias oboInOwl:hasDbXref MedDRA:10015088 semapv:UnspecifiedMatching -orphanet.ordo:93929 Cloacal exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching -orphanet.ordo:93929 Cloacal exstrophy oboInOwl:hasDbXref MedDRA:10067424 semapv:UnspecifiedMatching -orphanet.ordo:93929 Cloacal exstrophy oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching -orphanet.ordo:93929 Cloacal exstrophy oboInOwl:hasDbXref UMLS:C1850321 semapv:UnspecifiedMatching -orphanet.ordo:93930 Bladder exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching -orphanet.ordo:93930 Bladder exstrophy oboInOwl:hasDbXref MESH:D001746 semapv:UnspecifiedMatching -orphanet.ordo:93930 Bladder exstrophy oboInOwl:hasDbXref MeSH:D001746 semapv:UnspecifiedMatching -orphanet.ordo:93930 Bladder exstrophy oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching -orphanet.ordo:93930 Bladder exstrophy oboInOwl:hasDbXref UMLS:C0005689 semapv:UnspecifiedMatching -orphanet.ordo:93932 FG syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93932 FG syndrome type 1 oboInOwl:hasDbXref MESH:C537923 semapv:UnspecifiedMatching -orphanet.ordo:93932 FG syndrome type 1 oboInOwl:hasDbXref MeSH:C537923 semapv:UnspecifiedMatching -orphanet.ordo:93932 FG syndrome type 1 oboInOwl:hasDbXref OMIM:305450 semapv:UnspecifiedMatching -orphanet.ordo:93932 FG syndrome type 1 oboInOwl:hasDbXref UMLS:C0220769 semapv:UnspecifiedMatching -orphanet.ordo:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching -orphanet.ordo:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching -orphanet.ordo:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching -orphanet.ordo:93944 X-linked intellectual disability, Fichera type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching -orphanet.ordo:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching -orphanet.ordo:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching -orphanet.ordo:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref OMIM:188455 semapv:UnspecifiedMatching -orphanet.ordo:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref UMLS:C3495590 semapv:UnspecifiedMatching -orphanet.ordo:93958 Oromandibular dystonia oboInOwl:hasDbXref ICD10:G24.4 semapv:UnspecifiedMatching -orphanet.ordo:93958 Oromandibular dystonia oboInOwl:hasDbXref UMLS:C0393607 semapv:UnspecifiedMatching -orphanet.ordo:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref UMLS:C0025183 semapv:UnspecifiedMatching -orphanet.ordo:93968 Meningocele oboInOwl:hasDbXref ICD10:Q05 semapv:UnspecifiedMatching -orphanet.ordo:93968 Meningocele oboInOwl:hasDbXref MESH:D008588 semapv:UnspecifiedMatching -orphanet.ordo:93968 Meningocele oboInOwl:hasDbXref MeSH:D008588 semapv:UnspecifiedMatching -orphanet.ordo:93968 Meningocele oboInOwl:hasDbXref MedDRA:10027266 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.4 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.5 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.6 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching -orphanet.ordo:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref UMLS:C0025312 semapv:UnspecifiedMatching -orphanet.ordo:93970 Holmes-Gang syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:93971 Chudley-Lowry-Hoar syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -orphanet.ordo:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref MESH:C537457 semapv:UnspecifiedMatching -orphanet.ordo:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref MeSH:C537457 semapv:UnspecifiedMatching -orphanet.ordo:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref UMLS:C0796003 semapv:UnspecifiedMatching -orphanet.ordo:93973 Carpenter-Waziri syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref UMLS:C0796159 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.0 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref MESH:C537772 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref MeSH:C537772 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref MedDRA:10002654 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref OMIM:600674 semapv:UnspecifiedMatching -orphanet.ordo:93976 Anotia oboInOwl:hasDbXref UMLS:C0702139 semapv:UnspecifiedMatching -orphanet.ordo:94 Astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching -orphanet.ordo:94 Astrocytoma oboInOwl:hasDbXref MeSH:D001254 semapv:UnspecifiedMatching -orphanet.ordo:94 Astrocytoma oboInOwl:hasDbXref MedDRA:10003571 semapv:UnspecifiedMatching -orphanet.ordo:94 Astrocytoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -orphanet.ordo:94 Astrocytoma oboInOwl:hasDbXref UMLS:C0004114 semapv:UnspecifiedMatching -orphanet.ordo:94056 Humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -orphanet.ordo:94056 Humero-ulnar synostosis oboInOwl:hasDbXref UMLS:C0431799 semapv:UnspecifiedMatching -orphanet.ordo:94058 Neovascular glaucoma oboInOwl:hasDbXref ICD10:H40.5 semapv:UnspecifiedMatching -orphanet.ordo:94058 Neovascular glaucoma oboInOwl:hasDbXref MESH:D015355 semapv:UnspecifiedMatching -orphanet.ordo:94058 Neovascular glaucoma oboInOwl:hasDbXref MeSH:D015355 semapv:UnspecifiedMatching -orphanet.ordo:94058 Neovascular glaucoma oboInOwl:hasDbXref MedDRA:10062891 semapv:UnspecifiedMatching -orphanet.ordo:94058 Neovascular glaucoma oboInOwl:hasDbXref UMLS:C0017609 semapv:UnspecifiedMatching -orphanet.ordo:94059 Uremic pruritus oboInOwl:hasDbXref ICD10:L29.8 semapv:UnspecifiedMatching -orphanet.ordo:94059 Uremic pruritus oboInOwl:hasDbXref MedDRA:10060875 semapv:UnspecifiedMatching -orphanet.ordo:94059 Uremic pruritus oboInOwl:hasDbXref UMLS:C1262019 semapv:UnspecifiedMatching -orphanet.ordo:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -orphanet.ordo:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:94064 Deafness-infertility syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:94064 Deafness-infertility syndrome oboInOwl:hasDbXref OMIM:611102 semapv:UnspecifiedMatching -orphanet.ordo:94064 Deafness-infertility syndrome oboInOwl:hasDbXref UMLS:C1970187 semapv:UnspecifiedMatching -orphanet.ordo:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching -orphanet.ordo:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref UMLS:C3697269 semapv:UnspecifiedMatching -orphanet.ordo:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MESH:C535788 semapv:UnspecifiedMatching -orphanet.ordo:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MeSH:C535788 semapv:UnspecifiedMatching -orphanet.ordo:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MedDRA:10062920 semapv:UnspecifiedMatching -orphanet.ordo:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref OMIM:183900 semapv:UnspecifiedMatching -orphanet.ordo:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref UMLS:C2745959 semapv:UnspecifiedMatching -orphanet.ordo:94075 Severe immune-mediated enteropathy oboInOwl:hasDbXref UMLS:C0341305 semapv:UnspecifiedMatching -orphanet.ordo:94080 Non-functioning paraganglioma oboInOwl:hasDbXref ICD10:D44.7 semapv:UnspecifiedMatching -orphanet.ordo:94083 Partington syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:94083 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching -orphanet.ordo:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching -orphanet.ordo:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref UMLS:C1853623 semapv:UnspecifiedMatching -orphanet.ordo:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching -orphanet.ordo:94086 Blue diaper syndrome oboInOwl:hasDbXref MESH:C536239 semapv:UnspecifiedMatching -orphanet.ordo:94086 Blue diaper syndrome oboInOwl:hasDbXref MeSH:C536239 semapv:UnspecifiedMatching -orphanet.ordo:94086 Blue diaper syndrome oboInOwl:hasDbXref OMIM:211000 semapv:UnspecifiedMatching -orphanet.ordo:94086 Blue diaper syndrome oboInOwl:hasDbXref UMLS:C0268478 semapv:UnspecifiedMatching -orphanet.ordo:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching -orphanet.ordo:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref UMLS:C0406594 semapv:UnspecifiedMatching -orphanet.ordo:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -orphanet.ordo:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:220150 semapv:UnspecifiedMatching -orphanet.ordo:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:242050 semapv:UnspecifiedMatching -orphanet.ordo:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:307830 semapv:UnspecifiedMatching -orphanet.ordo:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:612076 semapv:UnspecifiedMatching -orphanet.ordo:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching -orphanet.ordo:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref MESH:C548075 semapv:UnspecifiedMatching -orphanet.ordo:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref MeSH:C548075 semapv:UnspecifiedMatching -orphanet.ordo:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref OMIM:603233 semapv:UnspecifiedMatching -orphanet.ordo:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref UMLS:C2932715 semapv:UnspecifiedMatching -orphanet.ordo:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching -orphanet.ordo:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref MESH:C548077 semapv:UnspecifiedMatching -orphanet.ordo:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref MeSH:C548077 semapv:UnspecifiedMatching -orphanet.ordo:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref OMIM:203330 semapv:UnspecifiedMatching -orphanet.ordo:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref UMLS:C2932717 semapv:UnspecifiedMatching -orphanet.ordo:94091 Mills syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10:G21.0 semapv:UnspecifiedMatching -orphanet.ordo:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MESH:D009459 semapv:UnspecifiedMatching -orphanet.ordo:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MeSH:D009459 semapv:UnspecifiedMatching -orphanet.ordo:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MedDRA:10029282 semapv:UnspecifiedMatching -orphanet.ordo:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS:C0027849 semapv:UnspecifiedMatching -orphanet.ordo:941 D-glyceric aciduria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching -orphanet.ordo:941 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching -orphanet.ordo:941 D-glyceric aciduria oboInOwl:hasDbXref MeSH:C535767 semapv:UnspecifiedMatching -orphanet.ordo:941 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching -orphanet.ordo:941 D-glyceric aciduria oboInOwl:hasDbXref UMLS:C1291386 semapv:UnspecifiedMatching -orphanet.ordo:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching -orphanet.ordo:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref OMIM:601238 semapv:UnspecifiedMatching -orphanet.ordo:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref UMLS:C1832585 semapv:UnspecifiedMatching -orphanet.ordo:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching -orphanet.ordo:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref OMIM:607250 semapv:UnspecifiedMatching -orphanet.ordo:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref UMLS:C1846574 semapv:UnspecifiedMatching -orphanet.ordo:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref OMIM:164500 semapv:UnspecifiedMatching -orphanet.ordo:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref UMLS:C0752125 semapv:UnspecifiedMatching -orphanet.ordo:94150 Anonychia congenita totalis oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching -orphanet.ordo:94150 Anonychia congenita totalis oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching -orphanet.ordo:943 Malonic aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -orphanet.ordo:943 Malonic aciduria oboInOwl:hasDbXref MESH:C535702 semapv:UnspecifiedMatching -orphanet.ordo:943 Malonic aciduria oboInOwl:hasDbXref MeSH:C535702 semapv:UnspecifiedMatching -orphanet.ordo:943 Malonic aciduria oboInOwl:hasDbXref OMIM:248360 semapv:UnspecifiedMatching -orphanet.ordo:943 Malonic aciduria oboInOwl:hasDbXref UMLS:C0342793 semapv:UnspecifiedMatching -orphanet.ordo:945 Acalvaria oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching -orphanet.ordo:945 Acalvaria oboInOwl:hasDbXref MESH:C535570 semapv:UnspecifiedMatching -orphanet.ordo:945 Acalvaria oboInOwl:hasDbXref MESH:D009436 semapv:UnspecifiedMatching -orphanet.ordo:945 Acalvaria oboInOwl:hasDbXref MeSH:C535570 semapv:UnspecifiedMatching -orphanet.ordo:945 Acalvaria oboInOwl:hasDbXref MeSH:D009436 semapv:UnspecifiedMatching -orphanet.ordo:945 Acalvaria oboInOwl:hasDbXref UMLS:C2930936 semapv:UnspecifiedMatching -orphanet.ordo:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref OMIM:201050 semapv:UnspecifiedMatching -orphanet.ordo:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref UMLS:C1860145 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref MESH:D005621 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref MeSH:D005621 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref MedDRA:10017374 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:229300 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:601992 semapv:UnspecifiedMatching -orphanet.ordo:95 Friedreich ataxia oboInOwl:hasDbXref UMLS:C0016719 semapv:UnspecifiedMatching -orphanet.ordo:950 Acrodysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:950 Acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching -orphanet.ordo:950 Acrodysostosis oboInOwl:hasDbXref MeSH:C538179 semapv:UnspecifiedMatching -orphanet.ordo:950 Acrodysostosis oboInOwl:hasDbXref OMIM:101800 semapv:UnspecifiedMatching -orphanet.ordo:950 Acrodysostosis oboInOwl:hasDbXref OMIM:614613 semapv:UnspecifiedMatching -orphanet.ordo:950 Acrodysostosis oboInOwl:hasDbXref UMLS:C0220659 semapv:UnspecifiedMatching -orphanet.ordo:95157 Acute hepatic porphyria oboInOwl:hasDbXref UMLS:C0268328 semapv:UnspecifiedMatching -orphanet.ordo:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -orphanet.ordo:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 semapv:UnspecifiedMatching -orphanet.ordo:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref MeSH:D017121 semapv:UnspecifiedMatching -orphanet.ordo:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching -orphanet.ordo:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162569 semapv:UnspecifiedMatching -orphanet.ordo:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching -orphanet.ordo:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching -orphanet.ordo:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref MeSH:C536695 semapv:UnspecifiedMatching -orphanet.ordo:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref OMIM:193530 semapv:UnspecifiedMatching -orphanet.ordo:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref UMLS:C0457013 semapv:UnspecifiedMatching -orphanet.ordo:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching -orphanet.ordo:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching -orphanet.ordo:95409 Acute adrenal insufficiency oboInOwl:hasDbXref UMLS:C0151467 semapv:UnspecifiedMatching -orphanet.ordo:95427 Secondary short bowel syndrome oboInOwl:hasDbXref ICD10:K91.2 semapv:UnspecifiedMatching -orphanet.ordo:95428 COG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -orphanet.ordo:95428 COG8-CDG oboInOwl:hasDbXref OMIM:611182 semapv:UnspecifiedMatching -orphanet.ordo:95428 COG8-CDG oboInOwl:hasDbXref UMLS:C1970021 semapv:UnspecifiedMatching -orphanet.ordo:95429 Angioma serpiginosum oboInOwl:hasDbXref ICD10:L81.7 semapv:UnspecifiedMatching -orphanet.ordo:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 semapv:UnspecifiedMatching -orphanet.ordo:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching -orphanet.ordo:95430 Congenital tracheomalacia oboInOwl:hasDbXref ICD10:Q32.0 semapv:UnspecifiedMatching -orphanet.ordo:95430 Congenital tracheomalacia oboInOwl:hasDbXref MESH:C557675 semapv:UnspecifiedMatching -orphanet.ordo:95430 Congenital tracheomalacia oboInOwl:hasDbXref MeSH:C557675 semapv:UnspecifiedMatching -orphanet.ordo:95430 Congenital tracheomalacia oboInOwl:hasDbXref MedDRA:10010654 semapv:UnspecifiedMatching -orphanet.ordo:95430 Congenital tracheomalacia oboInOwl:hasDbXref UMLS:C0392109 semapv:UnspecifiedMatching -orphanet.ordo:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:O43.0 semapv:UnspecifiedMatching -orphanet.ordo:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref MedDRA:10058328 semapv:UnspecifiedMatching -orphanet.ordo:95432 Primary progressive aphasia oboInOwl:hasDbXref MESH:D018888 semapv:UnspecifiedMatching -orphanet.ordo:95432 Primary progressive aphasia oboInOwl:hasDbXref MeSH:D018888 semapv:UnspecifiedMatching -orphanet.ordo:95432 Primary progressive aphasia oboInOwl:hasDbXref UMLS:C0282513 semapv:UnspecifiedMatching -orphanet.ordo:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref OMIM:271250 semapv:UnspecifiedMatching -orphanet.ordo:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref UMLS:C1849094 semapv:UnspecifiedMatching -orphanet.ordo:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref OMIM:607317 semapv:UnspecifiedMatching -orphanet.ordo:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref UMLS:C1846492 semapv:UnspecifiedMatching -orphanet.ordo:95443 Mesocardia oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:95443 Mesocardia oboInOwl:hasDbXref UMLS:C0265865 semapv:UnspecifiedMatching -orphanet.ordo:95448 Congenital aortic valve atresia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching -orphanet.ordo:95448 Congenital aortic valve atresia oboInOwl:hasDbXref MedDRA:10066801 semapv:UnspecifiedMatching -orphanet.ordo:95448 Congenital aortic valve atresia oboInOwl:hasDbXref UMLS:C0265843 semapv:UnspecifiedMatching -orphanet.ordo:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching -orphanet.ordo:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref MESH:D004816 semapv:UnspecifiedMatching -orphanet.ordo:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref MeSH:D004816 semapv:UnspecifiedMatching -orphanet.ordo:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref MedDRA:10044223 semapv:UnspecifiedMatching -orphanet.ordo:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref OMIM:608579 semapv:UnspecifiedMatching -orphanet.ordo:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref UMLS:C0014518 semapv:UnspecifiedMatching -orphanet.ordo:95457 Tricuspid valve agenesis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching -orphanet.ordo:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching -orphanet.ordo:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref MedDRA:10010656 semapv:UnspecifiedMatching -orphanet.ordo:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref UMLS:C0265836 semapv:UnspecifiedMatching -orphanet.ordo:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching -orphanet.ordo:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching -orphanet.ordo:95463 Anomaly of the tricuspid subvalvular apparatus oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching -orphanet.ordo:95465 Cleft mitral valve oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching -orphanet.ordo:95474 Double-orifice mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:95474 Double-orifice mitral valve oboInOwl:hasDbXref UMLS:C0344770 semapv:UnspecifiedMatching -orphanet.ordo:95486 Premature closure of the arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching -orphanet.ordo:95487 NON RARE IN EUROPE: Atypical arterial duct oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching -orphanet.ordo:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching -orphanet.ordo:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching -orphanet.ordo:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:613986 semapv:UnspecifiedMatching -orphanet.ordo:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:95498 Congenital anomaly of superior vena cava oboInOwl:hasDbXref UMLS:C0265928 semapv:UnspecifiedMatching -orphanet.ordo:95499 Congenital anomaly of the inferior vena cava oboInOwl:hasDbXref UMLS:C0265932 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:C531695 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:C535663 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D031845 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MeSH:C531695 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MeSH:C535663 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MeSH:D031845 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102400 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching -orphanet.ordo:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS:C0917715 semapv:UnspecifiedMatching -orphanet.ordo:95506 Primary hypophysitis oboInOwl:hasDbXref UMLS:C0342410 semapv:UnspecifiedMatching -orphanet.ordo:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref UMLS:C3163825 semapv:UnspecifiedMatching -orphanet.ordo:95510 Atrial appendage anomaly oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:95512 Adenohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:95513 Panhypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:956 Acropectororenal dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching -orphanet.ordo:95613 Pituitary apoplexy oboInOwl:hasDbXref MESH:D010899 semapv:UnspecifiedMatching -orphanet.ordo:95613 Pituitary apoplexy oboInOwl:hasDbXref MeSH:D010899 semapv:UnspecifiedMatching -orphanet.ordo:95613 Pituitary apoplexy oboInOwl:hasDbXref MedDRA:10056447 semapv:UnspecifiedMatching -orphanet.ordo:95613 Pituitary apoplexy oboInOwl:hasDbXref UMLS:C0032001 semapv:UnspecifiedMatching -orphanet.ordo:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching -orphanet.ordo:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -orphanet.ordo:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -orphanet.ordo:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching -orphanet.ordo:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -orphanet.ordo:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref OMIM:102510 semapv:UnspecifiedMatching -orphanet.ordo:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref UMLS:C1863307 semapv:UnspecifiedMatching -orphanet.ordo:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching -orphanet.ordo:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref OMIM:202150 semapv:UnspecifiedMatching -orphanet.ordo:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref UMLS:C1859978 semapv:UnspecifiedMatching -orphanet.ordo:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching -orphanet.ordo:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:202155 semapv:UnspecifiedMatching -orphanet.ordo:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:300200 semapv:UnspecifiedMatching -orphanet.ordo:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref UMLS:C0342482 semapv:UnspecifiedMatching -orphanet.ordo:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.2 semapv:UnspecifiedMatching -orphanet.ordo:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.3 semapv:UnspecifiedMatching -orphanet.ordo:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:146450 semapv:UnspecifiedMatching -orphanet.ordo:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300633 semapv:UnspecifiedMatching -orphanet.ordo:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300758 semapv:UnspecifiedMatching -orphanet.ordo:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300856 semapv:UnspecifiedMatching -orphanet.ordo:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching -orphanet.ordo:95709 Acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching -orphanet.ordo:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching -orphanet.ordo:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref OMIM:619938 semapv:UnspecifiedMatching -orphanet.ordo:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95712 Thyroid ectopia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95712 Thyroid ectopia oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching -orphanet.ordo:95712 Thyroid ectopia oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching -orphanet.ordo:95712 Thyroid ectopia oboInOwl:hasDbXref UMLS:C0266283 semapv:UnspecifiedMatching -orphanet.ordo:95713 Athyreosis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95713 Athyreosis oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching -orphanet.ordo:95713 Athyreosis oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching -orphanet.ordo:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.0 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274400 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274500 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274700 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274800 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274900 semapv:UnspecifiedMatching -orphanet.ordo:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching -orphanet.ordo:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95719 Thyroid hemiagenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95719 Thyroid hemiagenesis oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching -orphanet.ordo:95720 Thyroid hypoplasia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:95720 Thyroid hypoplasia oboInOwl:hasDbXref MedDRA:10065938 semapv:UnspecifiedMatching -orphanet.ordo:95720 Thyroid hypoplasia oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching -orphanet.ordo:95720 Thyroid hypoplasia oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching -orphanet.ordo:95720 Thyroid hypoplasia oboInOwl:hasDbXref UMLS:C0151516 semapv:UnspecifiedMatching -orphanet.ordo:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref MESH:C535665 semapv:UnspecifiedMatching -orphanet.ordo:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref MeSH:C535665 semapv:UnspecifiedMatching -orphanet.ordo:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref OMIM:200980 semapv:UnspecifiedMatching -orphanet.ordo:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref UMLS:C1860166 semapv:UnspecifiedMatching -orphanet.ordo:95854 Levocardia oboInOwl:hasDbXref ICD10:Q24.1 semapv:UnspecifiedMatching -orphanet.ordo:95854 Levocardia oboInOwl:hasDbXref MESH:D007979 semapv:UnspecifiedMatching -orphanet.ordo:95854 Levocardia oboInOwl:hasDbXref MeSH:D007979 semapv:UnspecifiedMatching -orphanet.ordo:95854 Levocardia oboInOwl:hasDbXref MedDRA:10071015 semapv:UnspecifiedMatching -orphanet.ordo:95854 Levocardia oboInOwl:hasDbXref UMLS:C0023569 semapv:UnspecifiedMatching -orphanet.ordo:959 Acro-renal-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:959 Acro-renal-ocular syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching -orphanet.ordo:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MESH:C535393 semapv:UnspecifiedMatching -orphanet.ordo:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MeSH:C535393 semapv:UnspecifiedMatching -orphanet.ordo:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MedDRA:10047631 semapv:UnspecifiedMatching -orphanet.ordo:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref OMIM:277460 semapv:UnspecifiedMatching -orphanet.ordo:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref UMLS:C1848533 semapv:UnspecifiedMatching -orphanet.ordo:96055 Tetrasomy 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96059 Mosaic trisomy 4 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:96060 Mosaic trisomy 5 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:96061 Mosaic trisomy 8 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:96061 Mosaic trisomy 8 oboInOwl:hasDbXref MESH:C537940 semapv:UnspecifiedMatching -orphanet.ordo:96061 Mosaic trisomy 8 oboInOwl:hasDbXref MeSH:C537940 semapv:UnspecifiedMatching -orphanet.ordo:96061 Mosaic trisomy 8 oboInOwl:hasDbXref MedDRA:10053916 semapv:UnspecifiedMatching -orphanet.ordo:96061 Mosaic trisomy 8 oboInOwl:hasDbXref UMLS:C1096527 semapv:UnspecifiedMatching -orphanet.ordo:96063 Mosaic trisomy 10 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:96068 Mosaic trisomy 22 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:96068 Mosaic trisomy 22 oboInOwl:hasDbXref MESH:C536796 semapv:UnspecifiedMatching -orphanet.ordo:96068 Mosaic trisomy 22 oboInOwl:hasDbXref MeSH:C536796 semapv:UnspecifiedMatching -orphanet.ordo:96068 Mosaic trisomy 22 oboInOwl:hasDbXref UMLS:C2931327 semapv:UnspecifiedMatching -orphanet.ordo:96069 Distal duplication 1p36 oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96070 Distal duplication 2p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96071 Distal duplication 3p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96074 Distal duplication 7p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref OMIM:613458 semapv:UnspecifiedMatching -orphanet.ordo:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96094 Distal duplication 2q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96095 3q26 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96096 Distal duplication 4q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96097 Distal duplication 5q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96098 Distal duplication 6q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96098 Distal duplication 6q oboInOwl:hasDbXref UMLS:C0795817 semapv:UnspecifiedMatching -orphanet.ordo:96100 Distal duplication 8q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96101 Distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96102 Distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96102 Distal duplication 10q oboInOwl:hasDbXref MESH:C538087 semapv:UnspecifiedMatching -orphanet.ordo:96102 Distal duplication 10q oboInOwl:hasDbXref MeSH:C538087 semapv:UnspecifiedMatching -orphanet.ordo:96102 Distal duplication 10q oboInOwl:hasDbXref UMLS:C2931728 semapv:UnspecifiedMatching -orphanet.ordo:96103 Distal duplication 11q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96103 Distal duplication 11q oboInOwl:hasDbXref MESH:C538294 semapv:UnspecifiedMatching -orphanet.ordo:96103 Distal duplication 11q oboInOwl:hasDbXref MeSH:C538294 semapv:UnspecifiedMatching -orphanet.ordo:96103 Distal duplication 11q oboInOwl:hasDbXref UMLS:C2931797 semapv:UnspecifiedMatching -orphanet.ordo:96105 Distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96106 Distal duplication 16q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96107 Distal duplication 20q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96109 Distal duplication 22q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96112 Non-distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching -orphanet.ordo:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref OMIM:609757 semapv:UnspecifiedMatching -orphanet.ordo:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref UMLS:C1857844 semapv:UnspecifiedMatching -orphanet.ordo:96123 Monosomy 22 oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching -orphanet.ordo:96125 Distal deletion 6p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96125 Distal deletion 6p oboInOwl:hasDbXref OMIM:612582 semapv:UnspecifiedMatching -orphanet.ordo:96125 Distal deletion 6p oboInOwl:hasDbXref UMLS:C2675486 semapv:UnspecifiedMatching -orphanet.ordo:96126 Distal deletion 7p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96129 Distal deletion 19p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96145 Distal deletion 4q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching -orphanet.ordo:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref UMLS:C0795833 semapv:UnspecifiedMatching -orphanet.ordo:96148 Distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96148 Distal deletion 10q oboInOwl:hasDbXref OMIM:609625 semapv:UnspecifiedMatching -orphanet.ordo:96148 Distal deletion 10q oboInOwl:hasDbXref UMLS:C2674937 semapv:UnspecifiedMatching -orphanet.ordo:96149 Distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96150 Distal deletion 14q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96160 Non-distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96167 Recombinant 8 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96167 Recombinant 8 syndrome oboInOwl:hasDbXref OMIM:179613 semapv:UnspecifiedMatching -orphanet.ordo:96167 Recombinant 8 syndrome oboInOwl:hasDbXref UMLS:C0795822 semapv:UnspecifiedMatching -orphanet.ordo:96168 Monosomy 13q34 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:96168 Monosomy 13q34 oboInOwl:hasDbXref OMIM:619148 semapv:UnspecifiedMatching -orphanet.ordo:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching -orphanet.ordo:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref UMLS:C1864871 semapv:UnspecifiedMatching -orphanet.ordo:96170 Emanuel syndrome oboInOwl:hasDbXref ICD10:Q92.6 semapv:UnspecifiedMatching -orphanet.ordo:96170 Emanuel syndrome oboInOwl:hasDbXref MESH:C535733 semapv:UnspecifiedMatching -orphanet.ordo:96170 Emanuel syndrome oboInOwl:hasDbXref MeSH:C535733 semapv:UnspecifiedMatching -orphanet.ordo:96170 Emanuel syndrome oboInOwl:hasDbXref OMIM:609029 semapv:UnspecifiedMatching -orphanet.ordo:96170 Emanuel syndrome oboInOwl:hasDbXref UMLS:C1836929 semapv:UnspecifiedMatching -orphanet.ordo:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref MESH:C538022 semapv:UnspecifiedMatching -orphanet.ordo:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref MeSH:C538022 semapv:UnspecifiedMatching -orphanet.ordo:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref UMLS:C0265430 semapv:UnspecifiedMatching -orphanet.ordo:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref UMLS:C0265444 semapv:UnspecifiedMatching -orphanet.ordo:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref MESH:C538303 semapv:UnspecifiedMatching -orphanet.ordo:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref MeSH:C538303 semapv:UnspecifiedMatching -orphanet.ordo:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref UMLS:C2931808 semapv:UnspecifiedMatching -orphanet.ordo:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref MESH:C538035 semapv:UnspecifiedMatching -orphanet.ordo:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref MeSH:C538035 semapv:UnspecifiedMatching -orphanet.ordo:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref UMLS:C2931703 semapv:UnspecifiedMatching -orphanet.ordo:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching -orphanet.ordo:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96180 Maternal uniparental disomy of chromosome 4 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:96183 Maternal uniparental disomy of chromosome 9 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching -orphanet.ordo:96185 Maternal uniparental disomy of chromosome 16 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref OMIM:617352 semapv:UnspecifiedMatching -orphanet.ordo:96187 Maternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96188 Maternal uniparental disomy of chromosome 22 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96190 Paternal uniparental disomy of chromosome 5 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96191 Paternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching -orphanet.ordo:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96195 Paternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96201 X small rings oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref MESH:D047748 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref MeSH:D047748 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref MedDRA:10035109 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref OMIM:219090 semapv:UnspecifiedMatching -orphanet.ordo:96253 Cushing disease oboInOwl:hasDbXref UMLS:C0010481 semapv:UnspecifiedMatching -orphanet.ordo:96256 Somatotropic adenoma oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching -orphanet.ordo:96256 Somatotropic adenoma oboInOwl:hasDbXref UMLS:C0346302 semapv:UnspecifiedMatching -orphanet.ordo:96263 48,XXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching -orphanet.ordo:96263 48,XXXY syndrome oboInOwl:hasDbXref MedDRA:10048228 semapv:UnspecifiedMatching -orphanet.ordo:96263 48,XXXY syndrome oboInOwl:hasDbXref UMLS:C0265498 semapv:UnspecifiedMatching -orphanet.ordo:96264 49,XXXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching -orphanet.ordo:96264 49,XXXXY syndrome oboInOwl:hasDbXref UMLS:C0265499 semapv:UnspecifiedMatching -orphanet.ordo:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching -orphanet.ordo:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching -orphanet.ordo:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching -orphanet.ordo:96269 Isolated partial vaginal agenesis oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref MESH:D000172 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref MeSH:D000172 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref MedDRA:10000599 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref OMIM:300943 semapv:UnspecifiedMatching -orphanet.ordo:963 Acromegaly oboInOwl:hasDbXref UMLS:C0001206 semapv:UnspecifiedMatching -orphanet.ordo:96321 Polyploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching -orphanet.ordo:96321 Polyploidy oboInOwl:hasDbXref MESH:D011123 semapv:UnspecifiedMatching -orphanet.ordo:96321 Polyploidy oboInOwl:hasDbXref MeSH:D011123 semapv:UnspecifiedMatching -orphanet.ordo:96321 Polyploidy oboInOwl:hasDbXref UMLS:C0032578 semapv:UnspecifiedMatching -orphanet.ordo:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref MESH:C536471 semapv:UnspecifiedMatching -orphanet.ordo:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref MeSH:C536471 semapv:UnspecifiedMatching -orphanet.ordo:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching -orphanet.ordo:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref UMLS:C1842466 semapv:UnspecifiedMatching -orphanet.ordo:96346 Anorectal malformation oboInOwl:hasDbXref MESH:C537771 semapv:UnspecifiedMatching -orphanet.ordo:96346 Anorectal malformation oboInOwl:hasDbXref MeSH:C537771 semapv:UnspecifiedMatching -orphanet.ordo:96346 Anorectal malformation oboInOwl:hasDbXref UMLS:C3495676 semapv:UnspecifiedMatching -orphanet.ordo:964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome oboInOwl:hasDbXref OMIM:102100 semapv:UnspecifiedMatching -orphanet.ordo:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref MESH:C535655 semapv:UnspecifiedMatching -orphanet.ordo:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref MeSH:C535655 semapv:UnspecifiedMatching -orphanet.ordo:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref OMIM:102150 semapv:UnspecifiedMatching -orphanet.ordo:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref UMLS:C0796280 semapv:UnspecifiedMatching -orphanet.ordo:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref OMIM:201250 semapv:UnspecifiedMatching -orphanet.ordo:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref UMLS:C2930970 semapv:UnspecifiedMatching -orphanet.ordo:969 Acromicric dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -orphanet.ordo:969 Acromicric dysplasia oboInOwl:hasDbXref MESH:C535662 semapv:UnspecifiedMatching -orphanet.ordo:969 Acromicric dysplasia oboInOwl:hasDbXref MeSH:C535662 semapv:UnspecifiedMatching -orphanet.ordo:969 Acromicric dysplasia oboInOwl:hasDbXref OMIM:102370 semapv:UnspecifiedMatching -orphanet.ordo:969 Acromicric dysplasia oboInOwl:hasDbXref UMLS:C0265287 semapv:UnspecifiedMatching -orphanet.ordo:97 Familial paroxysmal ataxia oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:97 Familial paroxysmal ataxia oboInOwl:hasDbXref OMIM:108500 semapv:UnspecifiedMatching -orphanet.ordo:97 Familial paroxysmal ataxia oboInOwl:hasDbXref UMLS:C1720416 semapv:UnspecifiedMatching -orphanet.ordo:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching -orphanet.ordo:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:201300 semapv:UnspecifiedMatching -orphanet.ordo:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:243000 semapv:UnspecifiedMatching -orphanet.ordo:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:613115 semapv:UnspecifiedMatching -orphanet.ordo:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:614213 semapv:UnspecifiedMatching -orphanet.ordo:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0020072 semapv:UnspecifiedMatching -orphanet.ordo:971 Acrorenal syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:971 Acrorenal syndrome oboInOwl:hasDbXref OMIM:102520 semapv:UnspecifiedMatching -orphanet.ordo:971 Acrorenal syndrome oboInOwl:hasDbXref OMIM:201310 semapv:UnspecifiedMatching -orphanet.ordo:971 Acrorenal syndrome oboInOwl:hasDbXref UMLS:C3495490 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:108120 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:620019 semapv:UnspecifiedMatching -orphanet.ordo:97120 Distal arthrogryposis oboInOwl:hasDbXref UMLS:C0265213 semapv:UnspecifiedMatching -orphanet.ordo:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching -orphanet.ordo:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref UMLS:C1834559 semapv:UnspecifiedMatching -orphanet.ordo:97214 Eisenmenger syndrome oboInOwl:hasDbXref ICD10:I27.2 semapv:UnspecifiedMatching -orphanet.ordo:97214 Eisenmenger syndrome oboInOwl:hasDbXref MedDRA:10058554 semapv:UnspecifiedMatching -orphanet.ordo:97214 Eisenmenger syndrome oboInOwl:hasDbXref UMLS:C0013743 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref MESH:C537111 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref MeSH:C537111 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211500 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching -orphanet.ordo:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref UMLS:C0796274 semapv:UnspecifiedMatching -orphanet.ordo:97230 Solar urticaria oboInOwl:hasDbXref ICD10:L56.3 semapv:UnspecifiedMatching -orphanet.ordo:97230 Solar urticaria oboInOwl:hasDbXref MedDRA:10041307 semapv:UnspecifiedMatching -orphanet.ordo:97230 Solar urticaria oboInOwl:hasDbXref UMLS:C0263610 semapv:UnspecifiedMatching -orphanet.ordo:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching -orphanet.ordo:97231 Ligneous conjunctivitis oboInOwl:hasDbXref MedDRA:10071570 semapv:UnspecifiedMatching -orphanet.ordo:97231 Ligneous conjunctivitis oboInOwl:hasDbXref UMLS:C1274789 semapv:UnspecifiedMatching -orphanet.ordo:97232 Fingerprint body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:97232 Fingerprint body myopathy oboInOwl:hasDbXref OMIM:305550 semapv:UnspecifiedMatching -orphanet.ordo:97232 Fingerprint body myopathy oboInOwl:hasDbXref UMLS:C1844560 semapv:UnspecifiedMatching -orphanet.ordo:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:261670 semapv:UnspecifiedMatching -orphanet.ordo:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C0268149 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref MESH:C535685 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref MeSH:C535685 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref MedDRA:10069417 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:600332 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching -orphanet.ordo:97238 Rippling muscle disease oboInOwl:hasDbXref UMLS:C1853698 semapv:UnspecifiedMatching -orphanet.ordo:97239 Reducing body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300717 semapv:UnspecifiedMatching -orphanet.ordo:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300718 semapv:UnspecifiedMatching -orphanet.ordo:97239 Reducing body myopathy oboInOwl:hasDbXref UMLS:C0270970 semapv:UnspecifiedMatching -orphanet.ordo:97240 Zebra body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:97240 Zebra body myopathy oboInOwl:hasDbXref UMLS:C0270969 semapv:UnspecifiedMatching -orphanet.ordo:97242 Congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C0699743 semapv:UnspecifiedMatching -orphanet.ordo:97244 Rigid spine syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:97244 Rigid spine syndrome oboInOwl:hasDbXref MESH:C535683 semapv:UnspecifiedMatching -orphanet.ordo:97244 Rigid spine syndrome oboInOwl:hasDbXref MeSH:C535683 semapv:UnspecifiedMatching -orphanet.ordo:97244 Rigid spine syndrome oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching -orphanet.ordo:97245 Congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:97245 Congenital myopathy oboInOwl:hasDbXref MedDRA:10062547 semapv:UnspecifiedMatching -orphanet.ordo:97245 Congenital myopathy oboInOwl:hasDbXref UMLS:C0270960 semapv:UnspecifiedMatching -orphanet.ordo:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref MESH:C548072 semapv:UnspecifiedMatching -orphanet.ordo:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref MeSH:C548072 semapv:UnspecifiedMatching -orphanet.ordo:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref OMIM:608027 semapv:UnspecifiedMatching -orphanet.ordo:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref UMLS:C1842687 semapv:UnspecifiedMatching -orphanet.ordo:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:97252 Mega-cisterna magna oboInOwl:hasDbXref UMLS:C3164501 semapv:UnspecifiedMatching -orphanet.ordo:97253 Neuroendocrine tumor of pancreas oboInOwl:hasDbXref UMLS:C0242363 semapv:UnspecifiedMatching -orphanet.ordo:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching -orphanet.ordo:97275 Encephalitis oboInOwl:hasDbXref MESH:D004660 semapv:UnspecifiedMatching -orphanet.ordo:97275 Encephalitis oboInOwl:hasDbXref MeSH:D004660 semapv:UnspecifiedMatching -orphanet.ordo:97275 Encephalitis oboInOwl:hasDbXref MedDRA:10014581 semapv:UnspecifiedMatching -orphanet.ordo:97275 Encephalitis oboInOwl:hasDbXref UMLS:C0014038 semapv:UnspecifiedMatching -orphanet.ordo:97278 PPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref ICD10:C25.4 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref ICD10:D13.7 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref ICD10:D37.7 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref MESH:D007340 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref MeSH:D007340 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref MedDRA:10022498 semapv:UnspecifiedMatching -orphanet.ordo:97279 Insulinoma oboInOwl:hasDbXref UMLS:C0021670 semapv:UnspecifiedMatching -orphanet.ordo:97280 Glucagonoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching -orphanet.ordo:97280 Glucagonoma oboInOwl:hasDbXref MESH:D005935 semapv:UnspecifiedMatching -orphanet.ordo:97280 Glucagonoma oboInOwl:hasDbXref MeSH:D005935 semapv:UnspecifiedMatching -orphanet.ordo:97280 Glucagonoma oboInOwl:hasDbXref MedDRA:10018404 semapv:UnspecifiedMatching -orphanet.ordo:97280 Glucagonoma oboInOwl:hasDbXref UMLS:C0017689 semapv:UnspecifiedMatching -orphanet.ordo:97282 VIPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching -orphanet.ordo:97282 VIPoma oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching -orphanet.ordo:97282 VIPoma oboInOwl:hasDbXref MeSH:D003969 semapv:UnspecifiedMatching -orphanet.ordo:97282 VIPoma oboInOwl:hasDbXref MedDRA:10047430 semapv:UnspecifiedMatching -orphanet.ordo:97282 VIPoma oboInOwl:hasDbXref UMLS:C0011993 semapv:UnspecifiedMatching -orphanet.ordo:97283 Somatostatinoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching -orphanet.ordo:97283 Somatostatinoma oboInOwl:hasDbXref MESH:D013005 semapv:UnspecifiedMatching -orphanet.ordo:97283 Somatostatinoma oboInOwl:hasDbXref MeSH:D013005 semapv:UnspecifiedMatching -orphanet.ordo:97283 Somatostatinoma oboInOwl:hasDbXref MedDRA:10041329 semapv:UnspecifiedMatching -orphanet.ordo:97283 Somatostatinoma oboInOwl:hasDbXref UMLS:C0037661 semapv:UnspecifiedMatching -orphanet.ordo:97285 Thyroid lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching -orphanet.ordo:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -orphanet.ordo:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref OMIM:606864 semapv:UnspecifiedMatching -orphanet.ordo:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref UMLS:C1847319 semapv:UnspecifiedMatching -orphanet.ordo:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref ICD10:D38.1 semapv:UnspecifiedMatching -orphanet.ordo:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching -orphanet.ordo:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching -orphanet.ordo:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref OMIM:605642 semapv:UnspecifiedMatching -orphanet.ordo:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref UMLS:C1854104 semapv:UnspecifiedMatching -orphanet.ordo:97292 Cardiogenic shock oboInOwl:hasDbXref ICD10:R57.0 semapv:UnspecifiedMatching -orphanet.ordo:97292 Cardiogenic shock oboInOwl:hasDbXref MedDRA:10007625 semapv:UnspecifiedMatching -orphanet.ordo:97292 Cardiogenic shock oboInOwl:hasDbXref UMLS:C0036980 semapv:UnspecifiedMatching -orphanet.ordo:97293 Rare benign ovarian tumor oboInOwl:hasDbXref UMLS:C0004997 semapv:UnspecifiedMatching -orphanet.ordo:97295 Furlong syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:97295 Furlong syndrome oboInOwl:hasDbXref MESH:C538192 semapv:UnspecifiedMatching -orphanet.ordo:97295 Furlong syndrome oboInOwl:hasDbXref MeSH:C538192 semapv:UnspecifiedMatching -orphanet.ordo:97295 Furlong syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching -orphanet.ordo:97295 Furlong syndrome oboInOwl:hasDbXref UMLS:C2931764 semapv:UnspecifiedMatching -orphanet.ordo:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref OMIM:605039 semapv:UnspecifiedMatching -orphanet.ordo:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref UMLS:C0796232 semapv:UnspecifiedMatching -orphanet.ordo:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -orphanet.ordo:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref OMIM:102650 semapv:UnspecifiedMatching -orphanet.ordo:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching -orphanet.ordo:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching -orphanet.ordo:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MeSH:D013901 semapv:UnspecifiedMatching -orphanet.ordo:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MedDRA:10048627 semapv:UnspecifiedMatching -orphanet.ordo:97330 Thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0039984 semapv:UnspecifiedMatching -orphanet.ordo:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M92.2 semapv:UnspecifiedMatching -orphanet.ordo:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M93.1 semapv:UnspecifiedMatching -orphanet.ordo:97332 Kienbock disease oboInOwl:hasDbXref MedDRA:10064242 semapv:UnspecifiedMatching -orphanet.ordo:97332 Kienbock disease oboInOwl:hasDbXref UMLS:C0022682 semapv:UnspecifiedMatching -orphanet.ordo:97335 Osgood-Schlatter disease oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching -orphanet.ordo:97335 Osgood-Schlatter disease oboInOwl:hasDbXref MedDRA:10031130 semapv:UnspecifiedMatching -orphanet.ordo:97335 Osgood-Schlatter disease oboInOwl:hasDbXref UMLS:C0029376 semapv:UnspecifiedMatching -orphanet.ordo:97336 Panner disease oboInOwl:hasDbXref ICD10:M92.0 semapv:UnspecifiedMatching -orphanet.ordo:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref ICD10:M92.4 semapv:UnspecifiedMatching -orphanet.ordo:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref MedDRA:10063585 semapv:UnspecifiedMatching -orphanet.ordo:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref UMLS:C1504517 semapv:UnspecifiedMatching -orphanet.ordo:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching -orphanet.ordo:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching -orphanet.ordo:97338 Melanoma of soft tissue oboInOwl:hasDbXref UMLS:C0206651 semapv:UnspecifiedMatching -orphanet.ordo:97339 Dural sinus malformation oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching -orphanet.ordo:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -orphanet.ordo:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref MESH:C536072 semapv:UnspecifiedMatching -orphanet.ordo:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref MeSH:C536072 semapv:UnspecifiedMatching -orphanet.ordo:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref OMIM:601379 semapv:UnspecifiedMatching -orphanet.ordo:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref UMLS:C1832408 semapv:UnspecifiedMatching -orphanet.ordo:97341 Persistent placoid maculopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -orphanet.ordo:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:97345 ABri amyloidosis oboInOwl:hasDbXref MESH:C538208 semapv:UnspecifiedMatching -orphanet.ordo:97345 ABri amyloidosis oboInOwl:hasDbXref MeSH:C538208 semapv:UnspecifiedMatching -orphanet.ordo:97345 ABri amyloidosis oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching -orphanet.ordo:97345 ABri amyloidosis oboInOwl:hasDbXref UMLS:C1867773 semapv:UnspecifiedMatching -orphanet.ordo:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -orphanet.ordo:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -orphanet.ordo:97346 ADan amyloidosis oboInOwl:hasDbXref MESH:C538209 semapv:UnspecifiedMatching -orphanet.ordo:97346 ADan amyloidosis oboInOwl:hasDbXref MeSH:C538209 semapv:UnspecifiedMatching -orphanet.ordo:97346 ADan amyloidosis oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching -orphanet.ordo:97346 ADan amyloidosis oboInOwl:hasDbXref UMLS:C1861735 semapv:UnspecifiedMatching -orphanet.ordo:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref ICD10:G21.3 semapv:UnspecifiedMatching -orphanet.ordo:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref UMLS:C0030568 semapv:UnspecifiedMatching -orphanet.ordo:97352 Pellagra oboInOwl:hasDbXref ICD10:E52 semapv:UnspecifiedMatching -orphanet.ordo:97352 Pellagra oboInOwl:hasDbXref MESH:D010383 semapv:UnspecifiedMatching -orphanet.ordo:97352 Pellagra oboInOwl:hasDbXref MeSH:D010383 semapv:UnspecifiedMatching -orphanet.ordo:97352 Pellagra oboInOwl:hasDbXref MedDRA:10029400 semapv:UnspecifiedMatching -orphanet.ordo:97352 Pellagra oboInOwl:hasDbXref UMLS:C0030783 semapv:UnspecifiedMatching -orphanet.ordo:97353 Dementia pugilistica oboInOwl:hasDbXref ICD10:F01.8 semapv:UnspecifiedMatching -orphanet.ordo:97354 NON RARE IN EUROPE: Wernicke encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching -orphanet.ordo:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:F02.3* semapv:UnspecifiedMatching -orphanet.ordo:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:G20+ semapv:UnspecifiedMatching -orphanet.ordo:97360 Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching -orphanet.ordo:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:UnspecifiedMatching -orphanet.ordo:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching -orphanet.ordo:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching -orphanet.ordo:97360 Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:UnspecifiedMatching -orphanet.ordo:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching -orphanet.ordo:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref UMLS:C0431691 semapv:UnspecifiedMatching -orphanet.ordo:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching -orphanet.ordo:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref UMLS:C0431692 semapv:UnspecifiedMatching -orphanet.ordo:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching -orphanet.ordo:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref MESH:D021782 semapv:UnspecifiedMatching -orphanet.ordo:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref MeSH:D021782 semapv:UnspecifiedMatching -orphanet.ordo:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1567426 semapv:UnspecifiedMatching -orphanet.ordo:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching -orphanet.ordo:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MESH:C537373 semapv:UnspecifiedMatching -orphanet.ordo:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MESH:D021782 semapv:UnspecifiedMatching -orphanet.ordo:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MeSH:C537373 semapv:UnspecifiedMatching -orphanet.ordo:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MeSH:D021782 semapv:UnspecifiedMatching -orphanet.ordo:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1840451 semapv:UnspecifiedMatching -orphanet.ordo:97365 NON RARE IN EUROPE: Solitary renal cyst oboInOwl:hasDbXref ICD10:N28.1 semapv:UnspecifiedMatching -orphanet.ordo:97366 Multiloculated renal cyst oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching -orphanet.ordo:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching -orphanet.ordo:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref OMIM:267430 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref MESH:C538225 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref MeSH:C538225 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:100300 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614219 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614814 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:615297 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616028 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616589 semapv:UnspecifiedMatching -orphanet.ordo:974 Adams-Oliver syndrome oboInOwl:hasDbXref UMLS:C0265268 semapv:UnspecifiedMatching -orphanet.ordo:97548 Right sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching -orphanet.ordo:97548 Right sided atrial isomerism oboInOwl:hasDbXref MedDRA:10068335 semapv:UnspecifiedMatching -orphanet.ordo:97548 Right sided atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching -orphanet.ordo:97548 Right sided atrial isomerism oboInOwl:hasDbXref UMLS:C0175707 semapv:UnspecifiedMatching -orphanet.ordo:97552 Steroid-sensitive nephrotic syndrome without renal biopsy oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching -orphanet.ordo:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching -orphanet.ordo:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 semapv:UnspecifiedMatching -orphanet.ordo:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref OMIM:614692 semapv:UnspecifiedMatching -orphanet.ordo:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0086445 semapv:UnspecifiedMatching -orphanet.ordo:97562 NON RARE IN EUROPE: Benign familial hematuria oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching -orphanet.ordo:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching -orphanet.ordo:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching -orphanet.ordo:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching -orphanet.ordo:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching -orphanet.ordo:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref UMLS:C2242534 semapv:UnspecifiedMatching -orphanet.ordo:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching -orphanet.ordo:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011547 semapv:UnspecifiedMatching -orphanet.ordo:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MeSH:D011547 semapv:UnspecifiedMatching -orphanet.ordo:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MedDRA:10037126 semapv:UnspecifiedMatching -orphanet.ordo:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033806 semapv:UnspecifiedMatching -orphanet.ordo:97598 Congenital renal artery stenosis oboInOwl:hasDbXref ICD10:Q27.1 semapv:UnspecifiedMatching -orphanet.ordo:97598 Congenital renal artery stenosis oboInOwl:hasDbXref UMLS:C0495523 semapv:UnspecifiedMatching -orphanet.ordo:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -orphanet.ordo:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 semapv:UnspecifiedMatching -orphanet.ordo:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268120 semapv:UnspecifiedMatching -orphanet.ordo:97678 Maternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -orphanet.ordo:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching -orphanet.ordo:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C3150928 semapv:UnspecifiedMatching -orphanet.ordo:977 Adrenomyodystrophy oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:977 Adrenomyodystrophy oboInOwl:hasDbXref MESH:C538051 semapv:UnspecifiedMatching -orphanet.ordo:977 Adrenomyodystrophy oboInOwl:hasDbXref MeSH:C538051 semapv:UnspecifiedMatching -orphanet.ordo:977 Adrenomyodystrophy oboInOwl:hasDbXref OMIM:300270 semapv:UnspecifiedMatching -orphanet.ordo:977 Adrenomyodystrophy oboInOwl:hasDbXref UMLS:C1846044 semapv:UnspecifiedMatching -orphanet.ordo:978 ADULT syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:978 ADULT syndrome oboInOwl:hasDbXref MESH:C538052 semapv:UnspecifiedMatching -orphanet.ordo:978 ADULT syndrome oboInOwl:hasDbXref MeSH:C538052 semapv:UnspecifiedMatching -orphanet.ordo:978 ADULT syndrome oboInOwl:hasDbXref OMIM:103285 semapv:UnspecifiedMatching -orphanet.ordo:978 ADULT syndrome oboInOwl:hasDbXref UMLS:C1863204 semapv:UnspecifiedMatching -orphanet.ordo:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref MESH:C536787 semapv:UnspecifiedMatching -orphanet.ordo:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref MeSH:C536787 semapv:UnspecifiedMatching -orphanet.ordo:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref OMIM:270550 semapv:UnspecifiedMatching -orphanet.ordo:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref UMLS:C1849140 semapv:UnspecifiedMatching -orphanet.ordo:980 Absence of the pulmonary artery oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching -orphanet.ordo:98010 Infectious disease of the nervous system oboInOwl:hasDbXref UMLS:C0597039 semapv:UnspecifiedMatching -orphanet.ordo:98022 Rare headache oboInOwl:hasDbXref UMLS:C0393735 semapv:UnspecifiedMatching -orphanet.ordo:98048 Rare male infertility oboInOwl:hasDbXref UMLS:C0021364 semapv:UnspecifiedMatching -orphanet.ordo:98052 Rare allergic respiratory disease oboInOwl:hasDbXref UMLS:C1504369 semapv:UnspecifiedMatching -orphanet.ordo:98057 Rare tumor oboInOwl:hasDbXref UMLS:C0375111 semapv:UnspecifiedMatching -orphanet.ordo:98062 Rare nervous system tumor oboInOwl:hasDbXref UMLS:C0027766 semapv:UnspecifiedMatching -orphanet.ordo:98085 46,XY difference of sex development oboInOwl:hasDbXref MESH:D058490 semapv:UnspecifiedMatching -orphanet.ordo:98085 46,XY difference of sex development oboInOwl:hasDbXref MeSH:D058490 semapv:UnspecifiedMatching -orphanet.ordo:98085 46,XY difference of sex development oboInOwl:hasDbXref UMLS:C2751824 semapv:UnspecifiedMatching -orphanet.ordo:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -orphanet.ordo:981 Internal carotid absence oboInOwl:hasDbXref ICD10:Q28.1 semapv:UnspecifiedMatching -orphanet.ordo:98130 Autosomal trisomy oboInOwl:hasDbXref UMLS:C0041107 semapv:UnspecifiedMatching -orphanet.ordo:98155 Sex-chromosome anomaly oboInOwl:hasDbXref UMLS:C0036868 semapv:UnspecifiedMatching -orphanet.ordo:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -orphanet.ordo:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -orphanet.ordo:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D004535 semapv:UnspecifiedMatching -orphanet.ordo:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref MeSH:D004535 semapv:UnspecifiedMatching -orphanet.ordo:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref MedDRA:10014316 semapv:UnspecifiedMatching -orphanet.ordo:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0013720 semapv:UnspecifiedMatching -orphanet.ordo:98252 Infectious encephalitis oboInOwl:hasDbXref MedDRA:10058805 semapv:UnspecifiedMatching -orphanet.ordo:98252 Infectious encephalitis oboInOwl:hasDbXref UMLS:C0596773 semapv:UnspecifiedMatching -orphanet.ordo:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching -orphanet.ordo:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref MeSH:D020191 semapv:UnspecifiedMatching -orphanet.ordo:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0751778 semapv:UnspecifiedMatching -orphanet.ordo:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MESH:D009196 semapv:UnspecifiedMatching -orphanet.ordo:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MeSH:D009196 semapv:UnspecifiedMatching -orphanet.ordo:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MedDRA:10028576 semapv:UnspecifiedMatching -orphanet.ordo:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref MESH:D054437 semapv:UnspecifiedMatching -orphanet.ordo:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref MeSH:D054437 semapv:UnspecifiedMatching -orphanet.ordo:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref UMLS:C1301355 semapv:UnspecifiedMatching -orphanet.ordo:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref UMLS:C1275661 semapv:UnspecifiedMatching -orphanet.ordo:98282 Plasma cell tumor oboInOwl:hasDbXref UMLS:C1959632 semapv:UnspecifiedMatching -orphanet.ordo:98289 Dendritic cell tumor oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching -orphanet.ordo:98292 Mastocytosis oboInOwl:hasDbXref MESH:D008415 semapv:UnspecifiedMatching -orphanet.ordo:98292 Mastocytosis oboInOwl:hasDbXref MeSH:D008415 semapv:UnspecifiedMatching -orphanet.ordo:98292 Mastocytosis oboInOwl:hasDbXref MedDRA:10026891 semapv:UnspecifiedMatching -orphanet.ordo:98292 Mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching -orphanet.ordo:98292 Mastocytosis oboInOwl:hasDbXref UMLS:C0024899 semapv:UnspecifiedMatching -orphanet.ordo:98293 Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0019829 semapv:UnspecifiedMatching -orphanet.ordo:983 Testicular regression syndrome oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching -orphanet.ordo:983 Testicular regression syndrome oboInOwl:hasDbXref MESH:C537770 semapv:UnspecifiedMatching -orphanet.ordo:983 Testicular regression syndrome oboInOwl:hasDbXref MeSH:C537770 semapv:UnspecifiedMatching -orphanet.ordo:983 Testicular regression syndrome oboInOwl:hasDbXref MedDRA:10002641 semapv:UnspecifiedMatching -orphanet.ordo:983 Testicular regression syndrome oboInOwl:hasDbXref OMIM:273250 semapv:UnspecifiedMatching -orphanet.ordo:983 Testicular regression syndrome oboInOwl:hasDbXref UMLS:C0266427 semapv:UnspecifiedMatching -orphanet.ordo:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref MESH:D054988 semapv:UnspecifiedMatching -orphanet.ordo:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref MeSH:D054988 semapv:UnspecifiedMatching -orphanet.ordo:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS:C2350236 semapv:UnspecifiedMatching -orphanet.ordo:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching -orphanet.ordo:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MeSH:D052496 semapv:UnspecifiedMatching -orphanet.ordo:98306 Familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C0271694 semapv:UnspecifiedMatching -orphanet.ordo:98307 Acquired lipodystrophy oboInOwl:hasDbXref MedDRA:10049287 semapv:UnspecifiedMatching -orphanet.ordo:98307 Acquired lipodystrophy oboInOwl:hasDbXref UMLS:C0877192 semapv:UnspecifiedMatching -orphanet.ordo:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching -orphanet.ordo:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref UMLS:C0221018 semapv:UnspecifiedMatching -orphanet.ordo:98363 Rare hemolytic anemia oboInOwl:hasDbXref UMLS:C0002878 semapv:UnspecifiedMatching -orphanet.ordo:98365 Hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C1262483 semapv:UnspecifiedMatching -orphanet.ordo:98366 Constitutional hemolytic anemia due to acanthocytosis oboInOwl:hasDbXref UMLS:C0687751 semapv:UnspecifiedMatching -orphanet.ordo:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching -orphanet.ordo:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching -orphanet.ordo:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching -orphanet.ordo:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MeSH:D000744 semapv:UnspecifiedMatching -orphanet.ordo:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MedDRA:10002046 semapv:UnspecifiedMatching -orphanet.ordo:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0002880 semapv:UnspecifiedMatching -orphanet.ordo:984 Pulmonary agenesis oboInOwl:hasDbXref ICD10:Q33.3 semapv:UnspecifiedMatching -orphanet.ordo:984 Pulmonary agenesis oboInOwl:hasDbXref MedDRA:10037322 semapv:UnspecifiedMatching -orphanet.ordo:984 Pulmonary agenesis oboInOwl:hasDbXref UMLS:C0265780 semapv:UnspecifiedMatching -orphanet.ordo:98421 Primary acquired red cell aplasia oboInOwl:hasDbXref MedDRA:10038184 semapv:UnspecifiedMatching -orphanet.ordo:98421 Primary acquired red cell aplasia oboInOwl:hasDbXref UMLS:C0034902 semapv:UnspecifiedMatching -orphanet.ordo:98427 Polycythemia oboInOwl:hasDbXref MESH:D011086 semapv:UnspecifiedMatching -orphanet.ordo:98427 Polycythemia oboInOwl:hasDbXref MeSH:D011086 semapv:UnspecifiedMatching -orphanet.ordo:98427 Polycythemia oboInOwl:hasDbXref MedDRA:10036051 semapv:UnspecifiedMatching -orphanet.ordo:98427 Polycythemia oboInOwl:hasDbXref UMLS:C0032461 semapv:UnspecifiedMatching -orphanet.ordo:98428 Secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching -orphanet.ordo:98428 Secondary polycythemia oboInOwl:hasDbXref MedDRA:10036062 semapv:UnspecifiedMatching -orphanet.ordo:98428 Secondary polycythemia oboInOwl:hasDbXref UMLS:C1318533 semapv:UnspecifiedMatching -orphanet.ordo:98429 Rare coagulation disorder oboInOwl:hasDbXref UMLS:C0005779 semapv:UnspecifiedMatching -orphanet.ordo:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:277450 semapv:UnspecifiedMatching -orphanet.ordo:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:607473 semapv:UnspecifiedMatching -orphanet.ordo:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS:C1848534 semapv:UnspecifiedMatching -orphanet.ordo:98472 Skeletal muscle disease oboInOwl:hasDbXref MESH:D009135 semapv:UnspecifiedMatching -orphanet.ordo:98472 Skeletal muscle disease oboInOwl:hasDbXref MeSH:D009135 semapv:UnspecifiedMatching -orphanet.ordo:98472 Skeletal muscle disease oboInOwl:hasDbXref MedDRA:10028641 semapv:UnspecifiedMatching -orphanet.ordo:98472 Skeletal muscle disease oboInOwl:hasDbXref UMLS:C1533847 semapv:UnspecifiedMatching -orphanet.ordo:98473 Muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98473 Muscular dystrophy oboInOwl:hasDbXref MESH:D009136 semapv:UnspecifiedMatching -orphanet.ordo:98473 Muscular dystrophy oboInOwl:hasDbXref MeSH:D009136 semapv:UnspecifiedMatching -orphanet.ordo:98473 Muscular dystrophy oboInOwl:hasDbXref MedDRA:10028356 semapv:UnspecifiedMatching -orphanet.ordo:98473 Muscular dystrophy oboInOwl:hasDbXref UMLS:C0026850 semapv:UnspecifiedMatching -orphanet.ordo:98482 Idiopathic inflammatory myopathy oboInOwl:hasDbXref UMLS:C0751356 semapv:UnspecifiedMatching -orphanet.ordo:98486 Metabolic myopathy oboInOwl:hasDbXref MedDRA:10068836 semapv:UnspecifiedMatching -orphanet.ordo:98486 Metabolic myopathy oboInOwl:hasDbXref UMLS:C0270984 semapv:UnspecifiedMatching -orphanet.ordo:98491 Neuromuscular junction disease oboInOwl:hasDbXref MESH:D020511 semapv:UnspecifiedMatching -orphanet.ordo:98491 Neuromuscular junction disease oboInOwl:hasDbXref MeSH:D020511 semapv:UnspecifiedMatching -orphanet.ordo:98491 Neuromuscular junction disease oboInOwl:hasDbXref UMLS:C0751950 semapv:UnspecifiedMatching -orphanet.ordo:98496 Rare peripheral neuropathy oboInOwl:hasDbXref UMLS:C0031117 semapv:UnspecifiedMatching -orphanet.ordo:98503 Motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:98503 Motor neuron disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching -orphanet.ordo:98503 Motor neuron disease oboInOwl:hasDbXref MeSH:D016472 semapv:UnspecifiedMatching -orphanet.ordo:98503 Motor neuron disease oboInOwl:hasDbXref MedDRA:10028003 semapv:UnspecifiedMatching -orphanet.ordo:98553 Developmental defect of the eye oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching -orphanet.ordo:98553 Developmental defect of the eye oboInOwl:hasDbXref OMIM:216820 semapv:UnspecifiedMatching -orphanet.ordo:98560 Rare palpebral disorder oboInOwl:hasDbXref UMLS:C0015423 semapv:UnspecifiedMatching -orphanet.ordo:98562 Cryptophthalmia oboInOwl:hasDbXref UMLS:C0311249 semapv:UnspecifiedMatching -orphanet.ordo:98570 Congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching -orphanet.ordo:98570 Congenital ectropion oboInOwl:hasDbXref UMLS:C0266578 semapv:UnspecifiedMatching -orphanet.ordo:98571 Secondary ectropion oboInOwl:hasDbXref ICD10:H02.1 semapv:UnspecifiedMatching -orphanet.ordo:98575 Syndromic telecanthus oboInOwl:hasDbXref UMLS:C0423113 semapv:UnspecifiedMatching -orphanet.ordo:98578 Rare disorder with ptosis oboInOwl:hasDbXref MESH:D001763 semapv:UnspecifiedMatching -orphanet.ordo:98578 Rare disorder with ptosis oboInOwl:hasDbXref MeSH:D001763 semapv:UnspecifiedMatching -orphanet.ordo:98578 Rare disorder with ptosis oboInOwl:hasDbXref MedDRA:10015995 semapv:UnspecifiedMatching -orphanet.ordo:98578 Rare disorder with ptosis oboInOwl:hasDbXref MedDRA:10037272 semapv:UnspecifiedMatching -orphanet.ordo:98602 Rare disorder of the lacrimal apparatus oboInOwl:hasDbXref UMLS:C0022904 semapv:UnspecifiedMatching -orphanet.ordo:98604 Congenital alacrima oboInOwl:hasDbXref UMLS:C1863199 semapv:UnspecifiedMatching -orphanet.ordo:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref ICD10:Q10.7 semapv:UnspecifiedMatching -orphanet.ordo:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref OMIM:165600 semapv:UnspecifiedMatching -orphanet.ordo:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref UMLS:C1833795 semapv:UnspecifiedMatching -orphanet.ordo:98610 Rare disorder with conjunctival involvement as a major feature oboInOwl:hasDbXref UMLS:C0009759 semapv:UnspecifiedMatching -orphanet.ordo:98618 Rare refraction anomaly oboInOwl:hasDbXref UMLS:C0034951 semapv:UnspecifiedMatching -orphanet.ordo:98619 Rare isolated myopia oboInOwl:hasDbXref ICD10:H52.1 semapv:UnspecifiedMatching -orphanet.ordo:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:608908 semapv:UnspecifiedMatching -orphanet.ordo:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:614292 semapv:UnspecifiedMatching -orphanet.ordo:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:615431 semapv:UnspecifiedMatching -orphanet.ordo:98619 Rare isolated myopia oboInOwl:hasDbXref UMLS:C0027092 semapv:UnspecifiedMatching -orphanet.ordo:98625 Superficial corneal dystrophy oboInOwl:hasDbXref UMLS:C2315777 semapv:UnspecifiedMatching -orphanet.ordo:98626 Stromal corneal dystrophy oboInOwl:hasDbXref UMLS:C0038457 semapv:UnspecifiedMatching -orphanet.ordo:98640 Rare disorder with lens opacification oboInOwl:hasDbXref UMLS:C0086543 semapv:UnspecifiedMatching -orphanet.ordo:98658 Color-vision disease oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -orphanet.ordo:98671 Hereditary optic neuropathy oboInOwl:hasDbXref MedDRA:10061323 semapv:UnspecifiedMatching -orphanet.ordo:98672 Autosomal dominant optic atrophy oboInOwl:hasDbXref MESH:D029241 semapv:UnspecifiedMatching -orphanet.ordo:98672 Autosomal dominant optic atrophy oboInOwl:hasDbXref MeSH:D029241 semapv:UnspecifiedMatching -orphanet.ordo:98672 Autosomal dominant optic atrophy oboInOwl:hasDbXref UMLS:C0338508 semapv:UnspecifiedMatching -orphanet.ordo:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:165500 semapv:UnspecifiedMatching -orphanet.ordo:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:605293 semapv:UnspecifiedMatching -orphanet.ordo:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:610708 semapv:UnspecifiedMatching -orphanet.ordo:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:618977 semapv:UnspecifiedMatching -orphanet.ordo:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:258500 semapv:UnspecifiedMatching -orphanet.ordo:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:616289 semapv:UnspecifiedMatching -orphanet.ordo:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:616732 semapv:UnspecifiedMatching -orphanet.ordo:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:617302 semapv:UnspecifiedMatching -orphanet.ordo:98682 NON RARE IN EUROPE: Essential strabismus oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching -orphanet.ordo:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching -orphanet.ordo:98706 Oculocutaneous or ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:98715 Uveitis oboInOwl:hasDbXref MESH:D014605 semapv:UnspecifiedMatching -orphanet.ordo:98715 Uveitis oboInOwl:hasDbXref MeSH:D014605 semapv:UnspecifiedMatching -orphanet.ordo:98715 Uveitis oboInOwl:hasDbXref MedDRA:10046851 semapv:UnspecifiedMatching -orphanet.ordo:98715 Uveitis oboInOwl:hasDbXref UMLS:C0042164 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:600309 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:606215 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:606217 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:614474 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching -orphanet.ordo:98722 Atrioventricular septal defect oboInOwl:hasDbXref UMLS:C1389018 semapv:UnspecifiedMatching -orphanet.ordo:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching -orphanet.ordo:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref MedDRA:10050053 semapv:UnspecifiedMatching -orphanet.ordo:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref MedDRA:10064962 semapv:UnspecifiedMatching -orphanet.ordo:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS:C0344963 semapv:UnspecifiedMatching -orphanet.ordo:98724 Congenital anomaly of the great arteries oboInOwl:hasDbXref MedDRA:10061080 semapv:UnspecifiedMatching -orphanet.ordo:98724 Congenital anomaly of the great arteries oboInOwl:hasDbXref UMLS:C0948632 semapv:UnspecifiedMatching -orphanet.ordo:98725 Ascending aorta anomaly oboInOwl:hasDbXref UMLS:C0345043 semapv:UnspecifiedMatching -orphanet.ordo:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MESH:D001164 semapv:UnspecifiedMatching -orphanet.ordo:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MeSH:D001164 semapv:UnspecifiedMatching -orphanet.ordo:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MedDRA:10003226 semapv:UnspecifiedMatching -orphanet.ordo:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref UMLS:C0003855 semapv:UnspecifiedMatching -orphanet.ordo:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching -orphanet.ordo:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref OMIM:164400 semapv:UnspecifiedMatching -orphanet.ordo:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref UMLS:C0752120 semapv:UnspecifiedMatching -orphanet.ordo:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref OMIM:183090 semapv:UnspecifiedMatching -orphanet.ordo:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref UMLS:C0752121 semapv:UnspecifiedMatching -orphanet.ordo:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching -orphanet.ordo:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref UMLS:C0024408 semapv:UnspecifiedMatching -orphanet.ordo:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref OMIM:183086 semapv:UnspecifiedMatching -orphanet.ordo:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref UMLS:C0752124 semapv:UnspecifiedMatching -orphanet.ordo:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref OMIM:607136 semapv:UnspecifiedMatching -orphanet.ordo:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref UMLS:C1846707 semapv:UnspecifiedMatching -orphanet.ordo:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref MESH:C537307 semapv:UnspecifiedMatching -orphanet.ordo:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref MeSH:C537307 semapv:UnspecifiedMatching -orphanet.ordo:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref OMIM:608768 semapv:UnspecifiedMatching -orphanet.ordo:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref UMLS:C1837454 semapv:UnspecifiedMatching -orphanet.ordo:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref OMIM:603516 semapv:UnspecifiedMatching -orphanet.ordo:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref UMLS:C1963674 semapv:UnspecifiedMatching -orphanet.ordo:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref OMIM:604326 semapv:UnspecifiedMatching -orphanet.ordo:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref UMLS:C1858501 semapv:UnspecifiedMatching -orphanet.ordo:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref MESH:C537196 semapv:UnspecifiedMatching -orphanet.ordo:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref MeSH:C537196 semapv:UnspecifiedMatching -orphanet.ordo:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref OMIM:605361 semapv:UnspecifiedMatching -orphanet.ordo:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref UMLS:C1854369 semapv:UnspecifiedMatching -orphanet.ordo:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref MESH:C537204 semapv:UnspecifiedMatching -orphanet.ordo:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref MeSH:C537204 semapv:UnspecifiedMatching -orphanet.ordo:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref OMIM:193003 semapv:UnspecifiedMatching -orphanet.ordo:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref UMLS:C1836383 semapv:UnspecifiedMatching -orphanet.ordo:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:600223 semapv:UnspecifiedMatching -orphanet.ordo:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C0752122 semapv:UnspecifiedMatching -orphanet.ordo:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref OMIM:600224 semapv:UnspecifiedMatching -orphanet.ordo:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref UMLS:C0752123 semapv:UnspecifiedMatching -orphanet.ordo:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref OMIM:604432 semapv:UnspecifiedMatching -orphanet.ordo:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref UMLS:C1858351 semapv:UnspecifiedMatching -orphanet.ordo:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref MESH:C537195 semapv:UnspecifiedMatching -orphanet.ordo:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref MeSH:C537195 semapv:UnspecifiedMatching -orphanet.ordo:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref OMIM:605259 semapv:UnspecifiedMatching -orphanet.ordo:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref UMLS:C1854488 semapv:UnspecifiedMatching -orphanet.ordo:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching -orphanet.ordo:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching -orphanet.ordo:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref UMLS:C1847725 semapv:UnspecifiedMatching -orphanet.ordo:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching -orphanet.ordo:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref MESH:C537197 semapv:UnspecifiedMatching -orphanet.ordo:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref MeSH:C537197 semapv:UnspecifiedMatching -orphanet.ordo:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref OMIM:607458 semapv:UnspecifiedMatching -orphanet.ordo:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref UMLS:C1843884 semapv:UnspecifiedMatching -orphanet.ordo:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -orphanet.ordo:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref MESH:C537198 semapv:UnspecifiedMatching -orphanet.ordo:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref MeSH:C537198 semapv:UnspecifiedMatching -orphanet.ordo:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching -orphanet.ordo:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref UMLS:C1846367 semapv:UnspecifiedMatching -orphanet.ordo:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching -orphanet.ordo:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref MESH:C537200 semapv:UnspecifiedMatching -orphanet.ordo:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref MeSH:C537200 semapv:UnspecifiedMatching -orphanet.ordo:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref OMIM:607454 semapv:UnspecifiedMatching -orphanet.ordo:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref UMLS:C1843891 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:600513 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:603204 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:605375 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:610353 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:615005 semapv:UnspecifiedMatching -orphanet.ordo:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref UMLS:C3696898 semapv:UnspecifiedMatching -orphanet.ordo:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching -orphanet.ordo:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching -orphanet.ordo:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref UMLS:C0796117 semapv:UnspecifiedMatching -orphanet.ordo:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -orphanet.ordo:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref OMIM:141750 semapv:UnspecifiedMatching -orphanet.ordo:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref UMLS:C0795917 semapv:UnspecifiedMatching -orphanet.ordo:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -orphanet.ordo:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -orphanet.ordo:98797 Isochromosomy Yp oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -orphanet.ordo:98798 Isochromosomy Yq oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -orphanet.ordo:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref MESH:C535564 semapv:UnspecifiedMatching -orphanet.ordo:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref MeSH:C535564 semapv:UnspecifiedMatching -orphanet.ordo:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching -orphanet.ordo:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref UMLS:C1861099 semapv:UnspecifiedMatching -orphanet.ordo:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref OMIM:128101 semapv:UnspecifiedMatching -orphanet.ordo:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref UMLS:C1860315 semapv:UnspecifiedMatching -orphanet.ordo:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref OMIM:602629 semapv:UnspecifiedMatching -orphanet.ordo:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref UMLS:C1414216 semapv:UnspecifiedMatching -orphanet.ordo:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref OMIM:607671 semapv:UnspecifiedMatching -orphanet.ordo:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref UMLS:C1843264 semapv:UnspecifiedMatching -orphanet.ordo:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching -orphanet.ordo:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:619911 semapv:UnspecifiedMatching -orphanet.ordo:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:128200 semapv:UnspecifiedMatching -orphanet.ordo:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611031 semapv:UnspecifiedMatching -orphanet.ordo:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C1868682 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MESH:C537181 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MeSH:C537181 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MedDRA:10065657 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MedDRA:10065658 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:118800 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611147 semapv:UnspecifiedMatching -orphanet.ordo:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C1869117 semapv:UnspecifiedMatching -orphanet.ordo:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -orphanet.ordo:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching -orphanet.ordo:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref UMLS:C1842534 semapv:UnspecifiedMatching -orphanet.ordo:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref UMLS:C0393777 semapv:UnspecifiedMatching -orphanet.ordo:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -orphanet.ordo:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching -orphanet.ordo:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching -orphanet.ordo:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref UMLS:C1846006 semapv:UnspecifiedMatching -orphanet.ordo:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 semapv:UnspecifiedMatching -orphanet.ordo:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 semapv:UnspecifiedMatching -orphanet.ordo:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MeSH:D018887 semapv:UnspecifiedMatching -orphanet.ordo:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MedDRA:10052075 semapv:UnspecifiedMatching -orphanet.ordo:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching -orphanet.ordo:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS:C0282512 semapv:UnspecifiedMatching -orphanet.ordo:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching -orphanet.ordo:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref MESH:C536956 semapv:UnspecifiedMatching -orphanet.ordo:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref MeSH:C536956 semapv:UnspecifiedMatching -orphanet.ordo:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:608096 semapv:UnspecifiedMatching -orphanet.ordo:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611631 semapv:UnspecifiedMatching -orphanet.ordo:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C1842564 semapv:UnspecifiedMatching -orphanet.ordo:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:604364 semapv:UnspecifiedMatching -orphanet.ordo:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617116 semapv:UnspecifiedMatching -orphanet.ordo:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617118 semapv:UnspecifiedMatching -orphanet.ordo:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.1 semapv:UnspecifiedMatching -orphanet.ordo:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015477 semapv:UnspecifiedMatching -orphanet.ordo:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MeSH:D015477 semapv:UnspecifiedMatching -orphanet.ordo:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10009018 semapv:UnspecifiedMatching -orphanet.ordo:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023480 semapv:UnspecifiedMatching -orphanet.ordo:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.2 semapv:UnspecifiedMatching -orphanet.ordo:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MESH:D054438 semapv:UnspecifiedMatching -orphanet.ordo:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MeSH:D054438 semapv:UnspecifiedMatching -orphanet.ordo:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10054651 semapv:UnspecifiedMatching -orphanet.ordo:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C1292772 semapv:UnspecifiedMatching -orphanet.ordo:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref ICD10:C94.6 semapv:UnspecifiedMatching -orphanet.ordo:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:98826 Refractory anemia oboInOwl:hasDbXref MESH:D000753 semapv:UnspecifiedMatching -orphanet.ordo:98826 Refractory anemia oboInOwl:hasDbXref MeSH:D000753 semapv:UnspecifiedMatching -orphanet.ordo:98826 Refractory anemia oboInOwl:hasDbXref MedDRA:10038269 semapv:UnspecifiedMatching -orphanet.ordo:98826 Refractory anemia oboInOwl:hasDbXref UMLS:C0002893 semapv:UnspecifiedMatching -orphanet.ordo:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -orphanet.ordo:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching -orphanet.ordo:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching -orphanet.ordo:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref UMLS:C1292775 semapv:UnspecifiedMatching -orphanet.ordo:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS:C0522631 semapv:UnspecifiedMatching -orphanet.ordo:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref UMLS:C0026998 semapv:UnspecifiedMatching -orphanet.ordo:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching -orphanet.ordo:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref UMLS:C1879321 semapv:UnspecifiedMatching -orphanet.ordo:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -orphanet.ordo:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref MedDRA:10045516 semapv:UnspecifiedMatching -orphanet.ordo:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching -orphanet.ordo:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref UMLS:C0280141 semapv:UnspecifiedMatching -orphanet.ordo:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -orphanet.ordo:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -orphanet.ordo:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10036710 semapv:UnspecifiedMatching -orphanet.ordo:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1292754 semapv:UnspecifiedMatching -orphanet.ordo:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -orphanet.ordo:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10069643 semapv:UnspecifiedMatching -orphanet.ordo:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching -orphanet.ordo:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching -orphanet.ordo:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref MESH:D017728 semapv:UnspecifiedMatching -orphanet.ordo:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref MeSH:D017728 semapv:UnspecifiedMatching -orphanet.ordo:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C0206180 semapv:UnspecifiedMatching -orphanet.ordo:98842 Lymphomatoid papulosis oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching -orphanet.ordo:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MESH:D017731 semapv:UnspecifiedMatching -orphanet.ordo:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MeSH:D017731 semapv:UnspecifiedMatching -orphanet.ordo:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MedDRA:10056670 semapv:UnspecifiedMatching -orphanet.ordo:98842 Lymphomatoid papulosis oboInOwl:hasDbXref UMLS:C0206182 semapv:UnspecifiedMatching -orphanet.ordo:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching -orphanet.ordo:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref UMLS:C0152268 semapv:UnspecifiedMatching -orphanet.ordo:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching -orphanet.ordo:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref UMLS:C0152266 semapv:UnspecifiedMatching -orphanet.ordo:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching -orphanet.ordo:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching -orphanet.ordo:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref MeSH:D006689 semapv:UnspecifiedMatching -orphanet.ordo:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref MedDRA:10020231 semapv:UnspecifiedMatching -orphanet.ordo:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref UMLS:C1266194 semapv:UnspecifiedMatching -orphanet.ordo:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching -orphanet.ordo:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref UMLS:C0152267 semapv:UnspecifiedMatching -orphanet.ordo:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching -orphanet.ordo:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056452 semapv:UnspecifiedMatching -orphanet.ordo:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref UMLS:C0272203 semapv:UnspecifiedMatching -orphanet.ordo:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching -orphanet.ordo:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref UMLS:C1301365 semapv:UnspecifiedMatching -orphanet.ordo:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching -orphanet.ordo:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056453 semapv:UnspecifiedMatching -orphanet.ordo:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref UMLS:C1112486 semapv:UnspecifiedMatching -orphanet.ordo:98851 Mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching -orphanet.ordo:98851 Mast cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching -orphanet.ordo:98851 Mast cell leukemia oboInOwl:hasDbXref MeSH:D007946 semapv:UnspecifiedMatching -orphanet.ordo:98851 Mast cell leukemia oboInOwl:hasDbXref MedDRA:10056450 semapv:UnspecifiedMatching -orphanet.ordo:98851 Mast cell leukemia oboInOwl:hasDbXref UMLS:C0023461 semapv:UnspecifiedMatching -orphanet.ordo:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching -orphanet.ordo:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref OMIM:263000 semapv:UnspecifiedMatching -orphanet.ordo:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS:C0238378 semapv:UnspecifiedMatching -orphanet.ordo:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching -orphanet.ordo:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612998 semapv:UnspecifiedMatching -orphanet.ordo:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 semapv:UnspecifiedMatching -orphanet.ordo:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching -orphanet.ordo:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410190 semapv:UnspecifiedMatching -orphanet.ordo:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching -orphanet.ordo:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MeSH:D020389 semapv:UnspecifiedMatching -orphanet.ordo:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching -orphanet.ordo:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C1450051 semapv:UnspecifiedMatching -orphanet.ordo:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537990 semapv:UnspecifiedMatching -orphanet.ordo:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MeSH:C537990 semapv:UnspecifiedMatching -orphanet.ordo:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 semapv:UnspecifiedMatching -orphanet.ordo:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref UMLS:C1854154 semapv:UnspecifiedMatching -orphanet.ordo:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching -orphanet.ordo:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching -orphanet.ordo:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref UMLS:C0022521 semapv:UnspecifiedMatching -orphanet.ordo:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching -orphanet.ordo:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching -orphanet.ordo:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0751337 semapv:UnspecifiedMatching -orphanet.ordo:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -orphanet.ordo:98865 Homozygous hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -orphanet.ordo:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -orphanet.ordo:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref OMIM:266140 semapv:UnspecifiedMatching -orphanet.ordo:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref UMLS:C0520739 semapv:UnspecifiedMatching -orphanet.ordo:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -orphanet.ordo:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref OMIM:166900 semapv:UnspecifiedMatching -orphanet.ordo:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching -orphanet.ordo:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching -orphanet.ordo:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching -orphanet.ordo:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref UMLS:C0271933 semapv:UnspecifiedMatching -orphanet.ordo:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching -orphanet.ordo:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching -orphanet.ordo:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS:C0271934 semapv:UnspecifiedMatching -orphanet.ordo:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref ICD10:D60.1 semapv:UnspecifiedMatching -orphanet.ordo:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref MESH:C536980 semapv:UnspecifiedMatching -orphanet.ordo:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref MeSH:C536980 semapv:UnspecifiedMatching -orphanet.ordo:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref OMIM:227050 semapv:UnspecifiedMatching -orphanet.ordo:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref UMLS:C0238478 semapv:UnspecifiedMatching -orphanet.ordo:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref ICD10:D60.0 semapv:UnspecifiedMatching -orphanet.ordo:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching -orphanet.ordo:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching -orphanet.ordo:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS:C1306589 semapv:UnspecifiedMatching -orphanet.ordo:98878 Hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching -orphanet.ordo:98878 Hemophilia A oboInOwl:hasDbXref MESH:D006467 semapv:UnspecifiedMatching -orphanet.ordo:98878 Hemophilia A oboInOwl:hasDbXref MeSH:D006467 semapv:UnspecifiedMatching -orphanet.ordo:98878 Hemophilia A oboInOwl:hasDbXref MedDRA:10016080 semapv:UnspecifiedMatching -orphanet.ordo:98878 Hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching -orphanet.ordo:98878 Hemophilia A oboInOwl:hasDbXref UMLS:C0019069 semapv:UnspecifiedMatching -orphanet.ordo:98879 Hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching -orphanet.ordo:98879 Hemophilia B oboInOwl:hasDbXref MESH:D002836 semapv:UnspecifiedMatching -orphanet.ordo:98879 Hemophilia B oboInOwl:hasDbXref MeSH:D002836 semapv:UnspecifiedMatching -orphanet.ordo:98879 Hemophilia B oboInOwl:hasDbXref MedDRA:10016077 semapv:UnspecifiedMatching -orphanet.ordo:98879 Hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -orphanet.ordo:98879 Hemophilia B oboInOwl:hasDbXref UMLS:C0008533 semapv:UnspecifiedMatching -orphanet.ordo:98880 Familial afibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:98880 Familial afibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching -orphanet.ordo:98880 Familial afibrinogenemia oboInOwl:hasDbXref UMLS:C2584774 semapv:UnspecifiedMatching -orphanet.ordo:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching -orphanet.ordo:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching -orphanet.ordo:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref UMLS:C0272350 semapv:UnspecifiedMatching -orphanet.ordo:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching -orphanet.ordo:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching -orphanet.ordo:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching -orphanet.ordo:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref UMLS:C3280114 semapv:UnspecifiedMatching -orphanet.ordo:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:300388 semapv:UnspecifiedMatching -orphanet.ordo:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:615752 semapv:UnspecifiedMatching -orphanet.ordo:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:616531 semapv:UnspecifiedMatching -orphanet.ordo:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref UMLS:C1845668 semapv:UnspecifiedMatching -orphanet.ordo:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref OMIM:311050 semapv:UnspecifiedMatching -orphanet.ordo:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref UMLS:C1839576 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref MESH:D054091 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref MeSH:D054091 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref MedDRA:10066854 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608097 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608098 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:612881 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:617201 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:618185 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:618918 semapv:UnspecifiedMatching -orphanet.ordo:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1868720 semapv:UnspecifiedMatching -orphanet.ordo:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:604801 semapv:UnspecifiedMatching -orphanet.ordo:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1858118 semapv:UnspecifiedMatching -orphanet.ordo:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching -orphanet.ordo:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref UMLS:C1837229 semapv:UnspecifiedMatching -orphanet.ordo:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98895 Becker muscular dystrophy oboInOwl:hasDbXref MedDRA:10059117 semapv:UnspecifiedMatching -orphanet.ordo:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:159050 semapv:UnspecifiedMatching -orphanet.ordo:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 semapv:UnspecifiedMatching -orphanet.ordo:98895 Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C0917713 semapv:UnspecifiedMatching -orphanet.ordo:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 semapv:UnspecifiedMatching -orphanet.ordo:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MeSH:D020388 semapv:UnspecifiedMatching -orphanet.ordo:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MedDRA:10013801 semapv:UnspecifiedMatching -orphanet.ordo:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref OMIM:310200 semapv:UnspecifiedMatching -orphanet.ordo:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS:C0013264 semapv:UnspecifiedMatching -orphanet.ordo:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -orphanet.ordo:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:164310 semapv:UnspecifiedMatching -orphanet.ordo:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:618940 semapv:UnspecifiedMatching -orphanet.ordo:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:619473 semapv:UnspecifiedMatching -orphanet.ordo:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:619790 semapv:UnspecifiedMatching -orphanet.ordo:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref UMLS:C1834014 semapv:UnspecifiedMatching -orphanet.ordo:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -orphanet.ordo:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref OMIM:103300 semapv:UnspecifiedMatching -orphanet.ordo:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref UMLS:C0595985 semapv:UnspecifiedMatching -orphanet.ordo:98902 Amish nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:98902 Amish nemaline myopathy oboInOwl:hasDbXref OMIM:605355 semapv:UnspecifiedMatching -orphanet.ordo:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -orphanet.ordo:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref UMLS:C3711389 semapv:UnspecifiedMatching -orphanet.ordo:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching -orphanet.ordo:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850674 semapv:UnspecifiedMatching -orphanet.ordo:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref OMIM:275630 semapv:UnspecifiedMatching -orphanet.ordo:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref UMLS:C0268238 semapv:UnspecifiedMatching -orphanet.ordo:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -orphanet.ordo:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref OMIM:610717 semapv:UnspecifiedMatching -orphanet.ordo:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref UMLS:C1853136 semapv:UnspecifiedMatching -orphanet.ordo:98909 Desminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:98909 Desminopathy oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching -orphanet.ordo:98909 Desminopathy oboInOwl:hasDbXref UMLS:C1832370 semapv:UnspecifiedMatching -orphanet.ordo:98911 Distal myotilinopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:98911 Distal myotilinopathy oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching -orphanet.ordo:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -orphanet.ordo:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref OMIM:609452 semapv:UnspecifiedMatching -orphanet.ordo:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref UMLS:C1836155 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:254300 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:601462 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:605809 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:608930 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:608931 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:614198 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616304 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616313 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616314 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616321 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616322 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616323 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616324 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching -orphanet.ordo:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:254210 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616040 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616330 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:617143 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:617239 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618197 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618198 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618323 semapv:UnspecifiedMatching -orphanet.ordo:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref UMLS:C0751884 semapv:UnspecifiedMatching -orphanet.ordo:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching -orphanet.ordo:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:603034 semapv:UnspecifiedMatching -orphanet.ordo:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref OMIM:139393 semapv:UnspecifiedMatching -orphanet.ordo:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C1963929 semapv:UnspecifiedMatching -orphanet.ordo:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:98919 Miller Fisher syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching -orphanet.ordo:98919 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 semapv:UnspecifiedMatching -orphanet.ordo:98919 Miller Fisher syndrome oboInOwl:hasDbXref MeSH:D019846 semapv:UnspecifiedMatching -orphanet.ordo:98919 Miller Fisher syndrome oboInOwl:hasDbXref MedDRA:10049567 semapv:UnspecifiedMatching -orphanet.ordo:98919 Miller Fisher syndrome oboInOwl:hasDbXref UMLS:C0393799 semapv:UnspecifiedMatching -orphanet.ordo:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -orphanet.ordo:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching -orphanet.ordo:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref UMLS:C1858517 semapv:UnspecifiedMatching -orphanet.ordo:98922 Blake pouch cyst oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching -orphanet.ordo:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching -orphanet.ordo:98934 Huntington disease-like 2 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching -orphanet.ordo:98934 Huntington disease-like 2 oboInOwl:hasDbXref OMIM:606438 semapv:UnspecifiedMatching -orphanet.ordo:98934 Huntington disease-like 2 oboInOwl:hasDbXref UMLS:C1847987 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:251505 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:300345 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:605738 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:610092 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:611638 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:613703 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:614497 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:615145 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:616428 semapv:UnspecifiedMatching -orphanet.ordo:98938 Colobomatous microphthalmia oboInOwl:hasDbXref UMLS:C2931501 semapv:UnspecifiedMatching -orphanet.ordo:98942 Coloboma of choroid and retina oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching -orphanet.ordo:98942 Coloboma of choroid and retina oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching -orphanet.ordo:98943 Coloboma of eye lens oboInOwl:hasDbXref ICD10:Q12.2 semapv:UnspecifiedMatching -orphanet.ordo:98943 Coloboma of eye lens oboInOwl:hasDbXref UMLS:C0344516 semapv:UnspecifiedMatching -orphanet.ordo:98944 Coloboma of iris oboInOwl:hasDbXref ICD10:Q13.0 semapv:UnspecifiedMatching -orphanet.ordo:98944 Coloboma of iris oboInOwl:hasDbXref MedDRA:10052642 semapv:UnspecifiedMatching -orphanet.ordo:98944 Coloboma of iris oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching -orphanet.ordo:98944 Coloboma of iris oboInOwl:hasDbXref UMLS:C0266551 semapv:UnspecifiedMatching -orphanet.ordo:98945 Coloboma of macula oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching -orphanet.ordo:98945 Coloboma of macula oboInOwl:hasDbXref OMIM:120300 semapv:UnspecifiedMatching -orphanet.ordo:98946 Coloboma of eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:98946 Coloboma of eyelid oboInOwl:hasDbXref UMLS:C0521573 semapv:UnspecifiedMatching -orphanet.ordo:98947 Coloboma of optic disc oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching -orphanet.ordo:98948 Congenital symblepharon oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:98948 Congenital symblepharon oboInOwl:hasDbXref UMLS:C0152454 semapv:UnspecifiedMatching -orphanet.ordo:98949 Complete cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:98949 Complete cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching -orphanet.ordo:98950 Partial cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -orphanet.ordo:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching -orphanet.ordo:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref MESH:D053559 semapv:UnspecifiedMatching -orphanet.ordo:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref MeSH:D053559 semapv:UnspecifiedMatching -orphanet.ordo:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:122100 semapv:UnspecifiedMatching -orphanet.ordo:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:618767 semapv:UnspecifiedMatching -orphanet.ordo:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS:C0339277 semapv:UnspecifiedMatching -orphanet.ordo:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:300778 semapv:UnspecifiedMatching -orphanet.ordo:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749050 semapv:UnspecifiedMatching -orphanet.ordo:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref OMIM:121820 semapv:UnspecifiedMatching -orphanet.ordo:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref UMLS:C0521723 semapv:UnspecifiedMatching -orphanet.ordo:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching -orphanet.ordo:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MeSH:C535480 semapv:UnspecifiedMatching -orphanet.ordo:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching -orphanet.ordo:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS:C0339273 semapv:UnspecifiedMatching -orphanet.ordo:98958 Climatic droplet keratopathy oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching -orphanet.ordo:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 semapv:UnspecifiedMatching -orphanet.ordo:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748503 semapv:UnspecifiedMatching -orphanet.ordo:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 semapv:UnspecifiedMatching -orphanet.ordo:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MeSH:C535942 semapv:UnspecifiedMatching -orphanet.ordo:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 semapv:UnspecifiedMatching -orphanet.ordo:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS:C1562894 semapv:UnspecifiedMatching -orphanet.ordo:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 semapv:UnspecifiedMatching -orphanet.ordo:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref MeSH:C535476 semapv:UnspecifiedMatching -orphanet.ordo:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 semapv:UnspecifiedMatching -orphanet.ordo:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref UMLS:C0339278 semapv:UnspecifiedMatching -orphanet.ordo:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref OMIM:121900 semapv:UnspecifiedMatching -orphanet.ordo:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1641846 semapv:UnspecifiedMatching -orphanet.ordo:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref MESH:C535474 semapv:UnspecifiedMatching -orphanet.ordo:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref MeSH:C535474 semapv:UnspecifiedMatching -orphanet.ordo:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref OMIM:607541 semapv:UnspecifiedMatching -orphanet.ordo:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref UMLS:C1275685 semapv:UnspecifiedMatching -orphanet.ordo:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref MESH:C537881 semapv:UnspecifiedMatching -orphanet.ordo:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref MeSH:C537881 semapv:UnspecifiedMatching -orphanet.ordo:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:122200 semapv:UnspecifiedMatching -orphanet.ordo:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:608471 semapv:UnspecifiedMatching -orphanet.ordo:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1690006 semapv:UnspecifiedMatching -orphanet.ordo:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv:UnspecifiedMatching -orphanet.ordo:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref MeSH:C535475 semapv:UnspecifiedMatching -orphanet.ordo:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching -orphanet.ordo:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 semapv:UnspecifiedMatching -orphanet.ordo:98968 Central discoid corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98969 Macular corneal dystrophy oboInOwl:hasDbXref MedDRA:10025406 semapv:UnspecifiedMatching -orphanet.ordo:98969 Macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 semapv:UnspecifiedMatching -orphanet.ordo:98969 Macular corneal dystrophy oboInOwl:hasDbXref UMLS:C0024439 semapv:UnspecifiedMatching -orphanet.ordo:98970 Fleck corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98970 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 semapv:UnspecifiedMatching -orphanet.ordo:98970 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS:C1562113 semapv:UnspecifiedMatching -orphanet.ordo:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref OMIM:612868 semapv:UnspecifiedMatching -orphanet.ordo:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748502 semapv:UnspecifiedMatching -orphanet.ordo:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref OMIM:217600 semapv:UnspecifiedMatching -orphanet.ordo:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref UMLS:C1622427 semapv:UnspecifiedMatching -orphanet.ordo:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609140 semapv:UnspecifiedMatching -orphanet.ordo:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609141 semapv:UnspecifiedMatching -orphanet.ordo:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:618031 semapv:UnspecifiedMatching -orphanet.ordo:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C0339284 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:136800 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:610158 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613267 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613268 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613269 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613270 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613271 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:615523 semapv:UnspecifiedMatching -orphanet.ordo:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C0016781 semapv:UnspecifiedMatching -orphanet.ordo:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -orphanet.ordo:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref OMIM:122000 semapv:UnspecifiedMatching -orphanet.ordo:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref UMLS:C1852555 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:600975 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613085 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613086 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:617272 semapv:UnspecifiedMatching -orphanet.ordo:98976 Congenital glaucoma oboInOwl:hasDbXref UMLS:C0020302 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref MedDRA:10064032 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608695 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608696 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching -orphanet.ordo:98977 Juvenile glaucoma oboInOwl:hasDbXref UMLS:C2981140 semapv:UnspecifiedMatching -orphanet.ordo:98978 Axenfeld anomaly oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching -orphanet.ordo:98978 Axenfeld anomaly oboInOwl:hasDbXref MedDRA:10058653 semapv:UnspecifiedMatching -orphanet.ordo:98978 Axenfeld anomaly oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching -orphanet.ordo:98978 Axenfeld anomaly oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching -orphanet.ordo:98978 Axenfeld anomaly oboInOwl:hasDbXref UMLS:C0266548 semapv:UnspecifiedMatching -orphanet.ordo:98979 Chandler syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching -orphanet.ordo:98979 Chandler syndrome oboInOwl:hasDbXref MedDRA:10057487 semapv:UnspecifiedMatching -orphanet.ordo:98979 Chandler syndrome oboInOwl:hasDbXref UMLS:C0544008 semapv:UnspecifiedMatching -orphanet.ordo:98980 Cogan-Reese syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching -orphanet.ordo:98980 Cogan-Reese syndrome oboInOwl:hasDbXref MedDRA:10059200 semapv:UnspecifiedMatching -orphanet.ordo:98980 Cogan-Reese syndrome oboInOwl:hasDbXref UMLS:C1168173 semapv:UnspecifiedMatching -orphanet.ordo:98981 Essential iris atrophy oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching -orphanet.ordo:98984 Pulverulent cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98984 Pulverulent cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching -orphanet.ordo:98984 Pulverulent cataract oboInOwl:hasDbXref UMLS:C1833118 semapv:UnspecifiedMatching -orphanet.ordo:98985 Early-onset sutural cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching -orphanet.ordo:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -orphanet.ordo:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching -orphanet.ordo:98985 Early-onset sutural cataract oboInOwl:hasDbXref UMLS:C1854021 semapv:UnspecifiedMatching -orphanet.ordo:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref MESH:C538282 semapv:UnspecifiedMatching -orphanet.ordo:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref MeSH:C538282 semapv:UnspecifiedMatching -orphanet.ordo:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching -orphanet.ordo:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref UMLS:C1855179 semapv:UnspecifiedMatching -orphanet.ordo:98989 Cerulean cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98989 Cerulean cataract oboInOwl:hasDbXref MESH:C537955 semapv:UnspecifiedMatching -orphanet.ordo:98989 Cerulean cataract oboInOwl:hasDbXref MeSH:C537955 semapv:UnspecifiedMatching -orphanet.ordo:98989 Cerulean cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching -orphanet.ordo:98989 Cerulean cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching -orphanet.ordo:98989 Cerulean cataract oboInOwl:hasDbXref UMLS:C0344523 semapv:UnspecifiedMatching -orphanet.ordo:98990 Coralliform cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98990 Coralliform cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref MedDRA:10007759 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref MedDRA:10057735 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching -orphanet.ordo:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -orphanet.ordo:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching -orphanet.ordo:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -orphanet.ordo:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -orphanet.ordo:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:619593 semapv:UnspecifiedMatching -orphanet.ordo:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref UMLS:C0858617 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref MESH:C535341 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref MeSH:C535341 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:618415 semapv:UnspecifiedMatching -orphanet.ordo:98994 Total early-onset cataract oboInOwl:hasDbXref UMLS:C0266539 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref MESH:C535342 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref MeSH:C535342 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching -orphanet.ordo:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -orphanet.ordo:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref OMIM:202650 semapv:UnspecifiedMatching -orphanet.ordo:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:153840 semapv:UnspecifiedMatching -orphanet.ordo:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:608161 semapv:UnspecifiedMatching -orphanet.ordo:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616151 semapv:UnspecifiedMatching -orphanet.ordo:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616152 semapv:UnspecifiedMatching -orphanet.ordo:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref UMLS:C1842914 semapv:UnspecifiedMatching -orphanet.ordo:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:169150 semapv:UnspecifiedMatching -orphanet.ordo:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:608970 semapv:UnspecifiedMatching -orphanet.ordo:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching -orphanet.ordo:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:179840 semapv:UnspecifiedMatching -orphanet.ordo:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:267800 semapv:UnspecifiedMatching -orphanet.ordo:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:617175 semapv:UnspecifiedMatching -orphanet.ordo:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref UMLS:C1867332 semapv:UnspecifiedMatching -orphanet.ordo:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:99004 Fundus pulverulentus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref OMIM:607259 semapv:UnspecifiedMatching -orphanet.ordo:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref UMLS:C3711370 semapv:UnspecifiedMatching -orphanet.ordo:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref OMIM:311070 semapv:UnspecifiedMatching -orphanet.ordo:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref UMLS:C1839566 semapv:UnspecifiedMatching -orphanet.ordo:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -orphanet.ordo:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref MESH:C536857 semapv:UnspecifiedMatching -orphanet.ordo:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref MeSH:C536857 semapv:UnspecifiedMatching -orphanet.ordo:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref OMIM:312920 semapv:UnspecifiedMatching -orphanet.ordo:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref UMLS:C1839264 semapv:UnspecifiedMatching -orphanet.ordo:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref OMIM:169500 semapv:UnspecifiedMatching -orphanet.ordo:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref UMLS:C1868512 semapv:UnspecifiedMatching -orphanet.ordo:99042 Congenitally uncorrected transposition of the great arteries with coarctation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching -orphanet.ordo:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching -orphanet.ordo:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref UMLS:C1956411 semapv:UnspecifiedMatching -orphanet.ordo:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref UMLS:C1956411 semapv:UnspecifiedMatching -orphanet.ordo:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref UMLS:C1956412 semapv:UnspecifiedMatching -orphanet.ordo:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -orphanet.ordo:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C0344644 semapv:UnspecifiedMatching -orphanet.ordo:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching -orphanet.ordo:99049 Pulmonary artery coming from patent ductus arteriosus oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching -orphanet.ordo:99050 Abnormal origin of right or left pulmonary artery from the aorta oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching -orphanet.ordo:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching -orphanet.ordo:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching -orphanet.ordo:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching -orphanet.ordo:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching -orphanet.ordo:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching -orphanet.ordo:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching -orphanet.ordo:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MeSH:D011666 semapv:UnspecifiedMatching -orphanet.ordo:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MedDRA:10037450 semapv:UnspecifiedMatching -orphanet.ordo:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref UMLS:C0034089 semapv:UnspecifiedMatching -orphanet.ordo:99055 Congenital anomaly of the tricuspid valve chordae oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching -orphanet.ordo:99056 Parachute tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching -orphanet.ordo:99057 Congenital mitral stenosis oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching -orphanet.ordo:99057 Congenital mitral stenosis oboInOwl:hasDbXref UMLS:C0158618 semapv:UnspecifiedMatching -orphanet.ordo:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching -orphanet.ordo:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref UMLS:C3165203 semapv:UnspecifiedMatching -orphanet.ordo:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching -orphanet.ordo:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching -orphanet.ordo:99061 Accessory mitral valve tissue oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:99062 Mitral valve agenesis oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching -orphanet.ordo:99063 Shone complex oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:99063 Shone complex oboInOwl:hasDbXref MedDRA:10066802 semapv:UnspecifiedMatching -orphanet.ordo:99063 Shone complex oboInOwl:hasDbXref UMLS:C1868705 semapv:UnspecifiedMatching -orphanet.ordo:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching -orphanet.ordo:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching -orphanet.ordo:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching -orphanet.ordo:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref UMLS:C0345055 semapv:UnspecifiedMatching -orphanet.ordo:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref UMLS:C0345054 semapv:UnspecifiedMatching -orphanet.ordo:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching -orphanet.ordo:99075 Encircling double aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99076 Persistent fifth aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99076 Persistent fifth aortic arch oboInOwl:hasDbXref UMLS:C0345066 semapv:UnspecifiedMatching -orphanet.ordo:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99077 Kommerell diverticulum oboInOwl:hasDbXref UMLS:C0265885 semapv:UnspecifiedMatching -orphanet.ordo:99078 Neuhauser anomaly oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99079 Cervical aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99079 Cervical aortic arch oboInOwl:hasDbXref UMLS:C0345065 semapv:UnspecifiedMatching -orphanet.ordo:99081 Right aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99081 Right aortic arch oboInOwl:hasDbXref MedDRA:10067407 semapv:UnspecifiedMatching -orphanet.ordo:99081 Right aortic arch oboInOwl:hasDbXref UMLS:C0035615 semapv:UnspecifiedMatching -orphanet.ordo:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching -orphanet.ordo:99082 Dysphagia lusoria oboInOwl:hasDbXref UMLS:C0267073 semapv:UnspecifiedMatching -orphanet.ordo:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching -orphanet.ordo:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching -orphanet.ordo:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:99089 Abnormal number of coronary ostia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:99090 Malposition of a coronary ostium oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching -orphanet.ordo:99092 Interventricular septum aneurysm oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching -orphanet.ordo:99092 Interventricular septum aneurysm oboInOwl:hasDbXref OMIM:105805 semapv:UnspecifiedMatching -orphanet.ordo:99092 Interventricular septum aneurysm oboInOwl:hasDbXref UMLS:C1387721 semapv:UnspecifiedMatching -orphanet.ordo:99094 Laubry-Pezzi syndrome oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching -orphanet.ordo:99095 Congenital Gerbode defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching -orphanet.ordo:99098 Cor triatriatum dexter oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching -orphanet.ordo:99099 Cor triatriatum sinister oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching -orphanet.ordo:991 PAGOD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:991 PAGOD syndrome oboInOwl:hasDbXref OMIM:202660 semapv:UnspecifiedMatching -orphanet.ordo:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:99101 Ectasia of the right atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:99102 Ectasia of the left atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref MedDRA:10031302 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref MedDRA:10031303 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching -orphanet.ordo:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref UMLS:C0344724 semapv:UnspecifiedMatching -orphanet.ordo:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref UMLS:C0344733 semapv:UnspecifiedMatching -orphanet.ordo:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref MESH:C548009 semapv:UnspecifiedMatching -orphanet.ordo:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref MeSH:C548009 semapv:UnspecifiedMatching -orphanet.ordo:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref UMLS:C0344730 semapv:UnspecifiedMatching -orphanet.ordo:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching -orphanet.ordo:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref MESH:C548006 semapv:UnspecifiedMatching -orphanet.ordo:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref MeSH:C548006 semapv:UnspecifiedMatching -orphanet.ordo:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref UMLS:C0741296 semapv:UnspecifiedMatching -orphanet.ordo:99107 Atrial septal aneurysm oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99107 Atrial septal aneurysm oboInOwl:hasDbXref UMLS:C0521533 semapv:UnspecifiedMatching -orphanet.ordo:99108 NON RARE IN EUROPE: Patent foramen ovale oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching -orphanet.ordo:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching -orphanet.ordo:99112 Absence of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99113 Subaortic course of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99117 Coronary sinus stenosis oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99118 Coronary sinus atresia oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -orphanet.ordo:99119 Right inferior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99120 Persistent eustachian valve oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.0 semapv:UnspecifiedMatching -orphanet.ordo:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref UMLS:C0265934 semapv:UnspecifiedMatching -orphanet.ordo:99123 Inferior vena cava interruption without azygos continuation oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching -orphanet.ordo:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching -orphanet.ordo:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C0158634 semapv:UnspecifiedMatching -orphanet.ordo:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.2 semapv:UnspecifiedMatching -orphanet.ordo:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching -orphanet.ordo:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:99130 Congenital partial agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -orphanet.ordo:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching -orphanet.ordo:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:619199 semapv:UnspecifiedMatching -orphanet.ordo:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching -orphanet.ordo:99139 Unstable hemoglobin disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching -orphanet.ordo:99139 Unstable hemoglobin disease oboInOwl:hasDbXref UMLS:C0272006 semapv:UnspecifiedMatching -orphanet.ordo:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -orphanet.ordo:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref OMIM:613611 semapv:UnspecifiedMatching -orphanet.ordo:99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching -orphanet.ordo:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref MedDRA:10069495 semapv:UnspecifiedMatching -orphanet.ordo:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS:C0272362 semapv:UnspecifiedMatching -orphanet.ordo:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -orphanet.ordo:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching -orphanet.ordo:99169 Epiblepharon oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:99169 Epiblepharon oboInOwl:hasDbXref UMLS:C0344503 semapv:UnspecifiedMatching -orphanet.ordo:99170 Tarsal kink syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:99171 Isolated congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching -orphanet.ordo:99172 Euryblepharon oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching -orphanet.ordo:99176 Congenital eyelid retraction oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:99177 Isolated distichiasis oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -orphanet.ordo:99177 Isolated distichiasis oboInOwl:hasDbXref OMIM:126300 semapv:UnspecifiedMatching -orphanet.ordo:99177 Isolated distichiasis oboInOwl:hasDbXref UMLS:C0423848 semapv:UnspecifiedMatching -orphanet.ordo:99179 Kandori fleck retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching -orphanet.ordo:99179 Kandori fleck retina oboInOwl:hasDbXref OMIM:228990 semapv:UnspecifiedMatching -orphanet.ordo:99179 Kandori fleck retina oboInOwl:hasDbXref UMLS:C0271257 semapv:UnspecifiedMatching -orphanet.ordo:99226 Monosomy X oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching -orphanet.ordo:99226 Monosomy X oboInOwl:hasDbXref UMLS:C0041408 semapv:UnspecifiedMatching -orphanet.ordo:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching -orphanet.ordo:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching -orphanet.ordo:99324 Paternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching -orphanet.ordo:99329 48,XYYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching -orphanet.ordo:99330 49,XYYYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching -orphanet.ordo:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching -orphanet.ordo:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536911 semapv:UnspecifiedMatching -orphanet.ordo:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref MeSH:C536911 semapv:UnspecifiedMatching -orphanet.ordo:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref OMIM:155240 semapv:UnspecifiedMatching -orphanet.ordo:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1833921 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:208150 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:300073 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618388 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618389 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618393 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618975 semapv:UnspecifiedMatching -orphanet.ordo:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref UMLS:C1276035 semapv:UnspecifiedMatching -orphanet.ordo:99408 Pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching -orphanet.ordo:99408 Pituitary adenoma oboInOwl:hasDbXref MedDRA:10035079 semapv:UnspecifiedMatching -orphanet.ordo:99408 Pituitary adenoma oboInOwl:hasDbXref UMLS:C0032000 semapv:UnspecifiedMatching -orphanet.ordo:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching -orphanet.ordo:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching -orphanet.ordo:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching -orphanet.ordo:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:300068 semapv:UnspecifiedMatching -orphanet.ordo:995 X-linked fetal akinesia syndrome oboInOwl:hasDbXref UMLS:C1848171 semapv:UnspecifiedMatching -orphanet.ordo:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -orphanet.ordo:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref OMIM:613343 semapv:UnspecifiedMatching -orphanet.ordo:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -orphanet.ordo:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1300227 semapv:UnspecifiedMatching -orphanet.ordo:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:614875 semapv:UnspecifiedMatching -orphanet.ordo:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -orphanet.ordo:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -orphanet.ordo:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref OMIM:224500 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.0 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.1 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.2 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.3 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.4 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.5 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching -orphanet.ordo:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.7 semapv:UnspecifiedMatching -orphanet.ordo:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching -orphanet.ordo:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref UMLS:C0406715 semapv:UnspecifiedMatching -orphanet.ordo:99688 Dermotrichic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:99688 Dermotrichic syndrome oboInOwl:hasDbXref UMLS:C0795919 semapv:UnspecifiedMatching -orphanet.ordo:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -orphanet.ordo:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -orphanet.ordo:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -orphanet.ordo:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching -orphanet.ordo:99715 MASS syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -orphanet.ordo:99715 MASS syndrome oboInOwl:hasDbXref MESH:C536030 semapv:UnspecifiedMatching -orphanet.ordo:99715 MASS syndrome oboInOwl:hasDbXref MeSH:C536030 semapv:UnspecifiedMatching -orphanet.ordo:99715 MASS syndrome oboInOwl:hasDbXref OMIM:604308 semapv:UnspecifiedMatching -orphanet.ordo:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -orphanet.ordo:99718 Leber plus disease oboInOwl:hasDbXref OMIM:165200 semapv:UnspecifiedMatching -orphanet.ordo:99718 Leber plus disease oboInOwl:hasDbXref OMIM:500001 semapv:UnspecifiedMatching -orphanet.ordo:99725 Pituitary gigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching -orphanet.ordo:99725 Pituitary gigantism oboInOwl:hasDbXref MESH:D005877 semapv:UnspecifiedMatching -orphanet.ordo:99725 Pituitary gigantism oboInOwl:hasDbXref MeSH:D005877 semapv:UnspecifiedMatching -orphanet.ordo:99725 Pituitary gigantism oboInOwl:hasDbXref MedDRA:10018265 semapv:UnspecifiedMatching -orphanet.ordo:99725 Pituitary gigantism oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching -orphanet.ordo:99725 Pituitary gigantism oboInOwl:hasDbXref UMLS:C0017547 semapv:UnspecifiedMatching -orphanet.ordo:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching -orphanet.ordo:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching -orphanet.ordo:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching -orphanet.ordo:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching -orphanet.ordo:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching -orphanet.ordo:99734 Myotonia fluctuans oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:99734 Myotonia fluctuans oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching -orphanet.ordo:99734 Myotonia fluctuans oboInOwl:hasDbXref UMLS:C0752355 semapv:UnspecifiedMatching -orphanet.ordo:99735 Myotonia permanens oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:99735 Myotonia permanens oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching -orphanet.ordo:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -orphanet.ordo:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching -orphanet.ordo:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D024741 semapv:UnspecifiedMatching -orphanet.ordo:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref MeSH:D024741 semapv:UnspecifiedMatching -orphanet.ordo:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C0949658 semapv:UnspecifiedMatching -orphanet.ordo:99741 King-Denborough syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -orphanet.ordo:99741 King-Denborough syndrome oboInOwl:hasDbXref MESH:C536883 semapv:UnspecifiedMatching -orphanet.ordo:99741 King-Denborough syndrome oboInOwl:hasDbXref MeSH:C536883 semapv:UnspecifiedMatching -orphanet.ordo:99741 King-Denborough syndrome oboInOwl:hasDbXref OMIM:619542 semapv:UnspecifiedMatching -orphanet.ordo:99741 King-Denborough syndrome oboInOwl:hasDbXref UMLS:C1840365 semapv:UnspecifiedMatching -orphanet.ordo:99742 Amish lethal microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -orphanet.ordo:99742 Amish lethal microcephaly oboInOwl:hasDbXref MESH:C538247 semapv:UnspecifiedMatching -orphanet.ordo:99742 Amish lethal microcephaly oboInOwl:hasDbXref MeSH:C538247 semapv:UnspecifiedMatching -orphanet.ordo:99742 Amish lethal microcephaly oboInOwl:hasDbXref OMIM:607196 semapv:UnspecifiedMatching -orphanet.ordo:99742 Amish lethal microcephaly oboInOwl:hasDbXref UMLS:C1846648 semapv:UnspecifiedMatching -orphanet.ordo:99745 Typhoid oboInOwl:hasDbXref ICD10:A01.0 semapv:UnspecifiedMatching -orphanet.ordo:99745 Typhoid oboInOwl:hasDbXref UMLS:C0041466 semapv:UnspecifiedMatching -orphanet.ordo:99748 Pontiac fever oboInOwl:hasDbXref ICD10:A48.2 semapv:UnspecifiedMatching -orphanet.ordo:99748 Pontiac fever oboInOwl:hasDbXref MedDRA:10054161 semapv:UnspecifiedMatching -orphanet.ordo:99748 Pontiac fever oboInOwl:hasDbXref UMLS:C0343528 semapv:UnspecifiedMatching -orphanet.ordo:99749 Kostmann syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -orphanet.ordo:99749 Kostmann syndrome oboInOwl:hasDbXref OMIM:610738 semapv:UnspecifiedMatching -orphanet.ordo:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -orphanet.ordo:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref MESH:C537240 semapv:UnspecifiedMatching -orphanet.ordo:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref MeSH:C537240 semapv:UnspecifiedMatching -orphanet.ordo:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching -orphanet.ordo:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref UMLS:C1850077 semapv:UnspecifiedMatching -orphanet.ordo:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching -orphanet.ordo:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MeSH:D018232 semapv:UnspecifiedMatching -orphanet.ordo:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10065867 semapv:UnspecifiedMatching -orphanet.ordo:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching -orphanet.ordo:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206655 semapv:UnspecifiedMatching -orphanet.ordo:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018233 semapv:UnspecifiedMatching -orphanet.ordo:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MeSH:D018233 semapv:UnspecifiedMatching -orphanet.ordo:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10065868 semapv:UnspecifiedMatching -orphanet.ordo:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching -orphanet.ordo:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206656 semapv:UnspecifiedMatching -orphanet.ordo:99771 Bifid uvula oboInOwl:hasDbXref ICD10:Q35.7 semapv:UnspecifiedMatching -orphanet.ordo:99771 Bifid uvula oboInOwl:hasDbXref UMLS:C0266122 semapv:UnspecifiedMatching -orphanet.ordo:99772 Cleft velum oboInOwl:hasDbXref ICD10:Q35.3 semapv:UnspecifiedMatching -orphanet.ordo:99772 Cleft velum oboInOwl:hasDbXref OMIM:119570 semapv:UnspecifiedMatching -orphanet.ordo:99772 Cleft velum oboInOwl:hasDbXref UMLS:C0432098 semapv:UnspecifiedMatching -orphanet.ordo:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching -orphanet.ordo:99776 Mosaic trisomy 9 oboInOwl:hasDbXref MESH:C535454 semapv:UnspecifiedMatching -orphanet.ordo:99776 Mosaic trisomy 9 oboInOwl:hasDbXref MeSH:C535454 semapv:UnspecifiedMatching -orphanet.ordo:99776 Mosaic trisomy 9 oboInOwl:hasDbXref UMLS:C2930908 semapv:UnspecifiedMatching -orphanet.ordo:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -orphanet.ordo:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref MESH:C536009 semapv:UnspecifiedMatching -orphanet.ordo:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref MeSH:C536009 semapv:UnspecifiedMatching -orphanet.ordo:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching -orphanet.ordo:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref UMLS:C0271742 semapv:UnspecifiedMatching -orphanet.ordo:99789 Dentin dysplasia type I oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:99789 Dentin dysplasia type I oboInOwl:hasDbXref MESH:C538215 semapv:UnspecifiedMatching -orphanet.ordo:99789 Dentin dysplasia type I oboInOwl:hasDbXref MeSH:C538215 semapv:UnspecifiedMatching -orphanet.ordo:99789 Dentin dysplasia type I oboInOwl:hasDbXref UMLS:C0399379 semapv:UnspecifiedMatching -orphanet.ordo:99791 Dentin dysplasia type II oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:99791 Dentin dysplasia type II oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching -orphanet.ordo:99791 Dentin dysplasia type II oboInOwl:hasDbXref UMLS:C0399380 semapv:UnspecifiedMatching -orphanet.ordo:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -orphanet.ordo:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref MESH:C538213 semapv:UnspecifiedMatching -orphanet.ordo:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref MeSH:C538213 semapv:UnspecifiedMatching -orphanet.ordo:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref OMIM:125440 semapv:UnspecifiedMatching -orphanet.ordo:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref UMLS:C1852201 semapv:UnspecifiedMatching -orphanet.ordo:99796 Subcortical band heterotopia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -orphanet.ordo:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:300067 semapv:UnspecifiedMatching -orphanet.ordo:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:600348 semapv:UnspecifiedMatching -orphanet.ordo:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching -orphanet.ordo:99796 Subcortical band heterotopia oboInOwl:hasDbXref UMLS:C1848201 semapv:UnspecifiedMatching -orphanet.ordo:99797 Anodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching -orphanet.ordo:99797 Anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching -orphanet.ordo:99797 Anodontia oboInOwl:hasDbXref MeSH:D000848 semapv:UnspecifiedMatching -orphanet.ordo:99797 Anodontia oboInOwl:hasDbXref MedDRA:10002583 semapv:UnspecifiedMatching -orphanet.ordo:99797 Anodontia oboInOwl:hasDbXref OMIM:206780 semapv:UnspecifiedMatching -orphanet.ordo:99797 Anodontia oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:106600 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:150400 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:313500 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:604625 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:610926 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:616724 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:617073 semapv:UnspecifiedMatching -orphanet.ordo:99798 Oligodontia oboInOwl:hasDbXref OMIM:620173 semapv:UnspecifiedMatching -orphanet.ordo:998 Albinism-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -orphanet.ordo:998 Albinism-deafness syndrome oboInOwl:hasDbXref MESH:C537042 semapv:UnspecifiedMatching -orphanet.ordo:998 Albinism-deafness syndrome oboInOwl:hasDbXref MeSH:C537042 semapv:UnspecifiedMatching -orphanet.ordo:998 Albinism-deafness syndrome oboInOwl:hasDbXref OMIM:300700 semapv:UnspecifiedMatching -orphanet.ordo:998 Albinism-deafness syndrome oboInOwl:hasDbXref UMLS:C1845068 semapv:UnspecifiedMatching -orphanet.ordo:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching -orphanet.ordo:99802 Hemimegalencephaly oboInOwl:hasDbXref UMLS:C0431391 semapv:UnspecifiedMatching -orphanet.ordo:99803 Haddad syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching -orphanet.ordo:99803 Haddad syndrome oboInOwl:hasDbXref MESH:C536209 semapv:UnspecifiedMatching -orphanet.ordo:99803 Haddad syndrome oboInOwl:hasDbXref MeSH:C536209 semapv:UnspecifiedMatching -orphanet.ordo:99803 Haddad syndrome oboInOwl:hasDbXref OMIM:209880 semapv:UnspecifiedMatching -orphanet.ordo:99803 Haddad syndrome oboInOwl:hasDbXref UMLS:C1859049 semapv:UnspecifiedMatching -orphanet.ordo:99806 Oculootodental syndrome oboInOwl:hasDbXref ICD10:K07.8 semapv:UnspecifiedMatching -orphanet.ordo:99806 Oculootodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:UnspecifiedMatching -orphanet.ordo:99806 Oculootodental syndrome oboInOwl:hasDbXref UMLS:C2750325 semapv:UnspecifiedMatching -orphanet.ordo:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -orphanet.ordo:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching -orphanet.ordo:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:617507 semapv:UnspecifiedMatching -orphanet.ordo:99807 PEHO-like syndrome oboInOwl:hasDbXref UMLS:C1850056 semapv:UnspecifiedMatching -orphanet.ordo:99810 Familial porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching -orphanet.ordo:99810 Familial porencephaly oboInOwl:hasDbXref MESH:C536850 semapv:UnspecifiedMatching -orphanet.ordo:99810 Familial porencephaly oboInOwl:hasDbXref MeSH:C536850 semapv:UnspecifiedMatching -orphanet.ordo:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching -orphanet.ordo:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching -orphanet.ordo:99810 Familial porencephaly oboInOwl:hasDbXref UMLS:C1867983 semapv:UnspecifiedMatching -orphanet.ordo:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching -orphanet.ordo:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref MESH:C537394 semapv:UnspecifiedMatching -orphanet.ordo:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref MeSH:C537394 semapv:UnspecifiedMatching -orphanet.ordo:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:243185 semapv:UnspecifiedMatching -orphanet.ordo:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C1855733 semapv:UnspecifiedMatching -orphanet.ordo:99812 LIG4 syndrome oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching -orphanet.ordo:99812 LIG4 syndrome oboInOwl:hasDbXref OMIM:606593 semapv:UnspecifiedMatching -orphanet.ordo:99812 LIG4 syndrome oboInOwl:hasDbXref UMLS:C1847827 semapv:UnspecifiedMatching -orphanet.ordo:99817 Non-polyposis Turcot syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching -orphanet.ordo:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching -orphanet.ordo:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching -orphanet.ordo:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching -orphanet.ordo:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:O99.2 semapv:UnspecifiedMatching -orphanet.ordo:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref MESH:C566384 semapv:UnspecifiedMatching -orphanet.ordo:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref MeSH:C566384 semapv:UnspecifiedMatching -orphanet.ordo:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref OMIM:603373 semapv:UnspecifiedMatching -orphanet.ordo:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref UMLS:C1863959 semapv:UnspecifiedMatching -orphanet.ordo:99824 Lassa fever oboInOwl:hasDbXref ICD10:A96.2 semapv:UnspecifiedMatching -orphanet.ordo:99824 Lassa fever oboInOwl:hasDbXref MESH:D007835 semapv:UnspecifiedMatching -orphanet.ordo:99824 Lassa fever oboInOwl:hasDbXref MeSH:D007835 semapv:UnspecifiedMatching -orphanet.ordo:99824 Lassa fever oboInOwl:hasDbXref MedDRA:10023927 semapv:UnspecifiedMatching -orphanet.ordo:99824 Lassa fever oboInOwl:hasDbXref UMLS:C0023092 semapv:UnspecifiedMatching -orphanet.ordo:99825 Nipah virus disease oboInOwl:hasDbXref ICD10:A98.8 semapv:UnspecifiedMatching -orphanet.ordo:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.3 semapv:UnspecifiedMatching -orphanet.ordo:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref MedDRA:10026822 semapv:UnspecifiedMatching -orphanet.ordo:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS:C0024788 semapv:UnspecifiedMatching -orphanet.ordo:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.0 semapv:UnspecifiedMatching -orphanet.ordo:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019099 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.0 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.1 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.2 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.9 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref MESH:D003715 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref MeSH:D003715 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref MedDRA:10012310 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref OMIM:614371 semapv:UnspecifiedMatching -orphanet.ordo:99828 Dengue fever oboInOwl:hasDbXref UMLS:C0011311 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.0 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.1 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.9 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref MESH:D015004 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref MeSH:D015004 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref MedDRA:10048240 semapv:UnspecifiedMatching -orphanet.ordo:99829 Yellow fever oboInOwl:hasDbXref UMLS:C0043395 semapv:UnspecifiedMatching -orphanet.ordo:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching -orphanet.ordo:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref OMIM:618573 semapv:UnspecifiedMatching -orphanet.ordo:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref MESH:C535887 semapv:UnspecifiedMatching -orphanet.ordo:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref MeSH:C535887 semapv:UnspecifiedMatching -orphanet.ordo:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref OMIM:116920 semapv:UnspecifiedMatching -orphanet.ordo:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref UMLS:C0398738 semapv:UnspecifiedMatching -orphanet.ordo:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref OMIM:266265 semapv:UnspecifiedMatching -orphanet.ordo:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref UMLS:C0398739 semapv:UnspecifiedMatching -orphanet.ordo:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref OMIM:612840 semapv:UnspecifiedMatching -orphanet.ordo:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref UMLS:C2748536 semapv:UnspecifiedMatching -orphanet.ordo:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching -orphanet.ordo:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:268200 semapv:UnspecifiedMatching -orphanet.ordo:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:550500 semapv:UnspecifiedMatching -orphanet.ordo:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching -orphanet.ordo:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref OMIM:160010 semapv:UnspecifiedMatching -orphanet.ordo:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref UMLS:C1834567 semapv:UnspecifiedMatching -orphanet.ordo:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -orphanet.ordo:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref OMIM:612932 semapv:UnspecifiedMatching -orphanet.ordo:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref UMLS:C2752027 semapv:UnspecifiedMatching -orphanet.ordo:99852 Ravine syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:99853 Ovarioleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:99853 Ovarioleukodystrophy oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -orphanet.ordo:99853 Ovarioleukodystrophy oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching -orphanet.ordo:99853 Ovarioleukodystrophy oboInOwl:hasDbXref UMLS:C1847967 semapv:UnspecifiedMatching -orphanet.ordo:99854 Cree leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -orphanet.ordo:99854 Cree leukoencephalopathy oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -orphanet.ordo:99854 Cree leukoencephalopathy oboInOwl:hasDbXref UMLS:C1858991 semapv:UnspecifiedMatching -orphanet.ordo:99856 Primary syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching -orphanet.ordo:99856 Primary syringomyelia oboInOwl:hasDbXref UMLS:C0039144 semapv:UnspecifiedMatching -orphanet.ordo:99857 Secondary syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching -orphanet.ordo:99858 Idiopathic syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching -orphanet.ordo:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:615545 semapv:UnspecifiedMatching -orphanet.ordo:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching -orphanet.ordo:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1961099 semapv:UnspecifiedMatching -orphanet.ordo:99865 Spermatocytic seminoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching -orphanet.ordo:99865 Spermatocytic seminoma oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -orphanet.ordo:99865 Spermatocytic seminoma oboInOwl:hasDbXref UMLS:C0334517 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref ICD10:D38.4 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref MESH:D013945 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref MeSH:D013945 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref MedDRA:10043670 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref OMIM:274230 semapv:UnspecifiedMatching -orphanet.ordo:99867 Thymoma oboInOwl:hasDbXref UMLS:C0040100 semapv:UnspecifiedMatching -orphanet.ordo:99868 Thymic carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:99868 Thymic carcinoma oboInOwl:hasDbXref MedDRA:10061031 semapv:UnspecifiedMatching -orphanet.ordo:99868 Thymic carcinoma oboInOwl:hasDbXref UMLS:C0205969 semapv:UnspecifiedMatching -orphanet.ordo:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MESH:C564166 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MeSH:C564166 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:600166 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:617343 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:618883 semapv:UnspecifiedMatching -orphanet.ordo:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref UMLS:C4551961 semapv:UnspecifiedMatching -orphanet.ordo:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching -orphanet.ordo:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching -orphanet.ordo:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref UMLS:C1704981 semapv:UnspecifiedMatching -orphanet.ordo:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching -orphanet.ordo:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618856 semapv:UnspecifiedMatching -orphanet.ordo:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618857 semapv:UnspecifiedMatching -orphanet.ordo:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618858 semapv:UnspecifiedMatching -orphanet.ordo:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C1833104 semapv:UnspecifiedMatching -orphanet.ordo:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:601410 semapv:UnspecifiedMatching -orphanet.ordo:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610374 semapv:UnspecifiedMatching -orphanet.ordo:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610582 semapv:UnspecifiedMatching -orphanet.ordo:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C1832386 semapv:UnspecifiedMatching -orphanet.ordo:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -orphanet.ordo:99888 NON RARE IN EUROPE: Adrenocortical adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -orphanet.ordo:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching -orphanet.ordo:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching -orphanet.ordo:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref UMLS:C0342442 semapv:UnspecifiedMatching -orphanet.ordo:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -orphanet.ordo:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref MESH:C535530 semapv:UnspecifiedMatching -orphanet.ordo:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref MeSH:C535530 semapv:UnspecifiedMatching -orphanet.ordo:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching -orphanet.ordo:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref UMLS:C2930924 semapv:UnspecifiedMatching -orphanet.ordo:999 Ermine phenotype oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -orphanet.ordo:999 Ermine phenotype oboInOwl:hasDbXref MESH:C535508 semapv:UnspecifiedMatching -orphanet.ordo:999 Ermine phenotype oboInOwl:hasDbXref MeSH:C535508 semapv:UnspecifiedMatching -orphanet.ordo:999 Ermine phenotype oboInOwl:hasDbXref OMIM:227010 semapv:UnspecifiedMatching -orphanet.ordo:999 Ermine phenotype oboInOwl:hasDbXref UMLS:C1856899 semapv:UnspecifiedMatching -orphanet.ordo:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535690 semapv:UnspecifiedMatching -orphanet.ordo:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MeSH:C535690 semapv:UnspecifiedMatching -orphanet.ordo:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220711 semapv:UnspecifiedMatching -orphanet.ordo:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -orphanet.ordo:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref OMIM:611126 semapv:UnspecifiedMatching -orphanet.ordo:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref UMLS:C1970173 semapv:UnspecifiedMatching -orphanet.ordo:99903 Spirillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching -orphanet.ordo:99903 Spirillary rat-bite fever oboInOwl:hasDbXref UMLS:C0152062 semapv:UnspecifiedMatching -orphanet.ordo:99905 Streptobacillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching -orphanet.ordo:99906 Farmer's lung disease oboInOwl:hasDbXref ICD10:J67.0 semapv:UnspecifiedMatching -orphanet.ordo:99906 Farmer's lung disease oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching -orphanet.ordo:99906 Farmer's lung disease oboInOwl:hasDbXref MeSH:D005203 semapv:UnspecifiedMatching -orphanet.ordo:99906 Farmer's lung disease oboInOwl:hasDbXref MedDRA:10016221 semapv:UnspecifiedMatching -orphanet.ordo:99906 Farmer's lung disease oboInOwl:hasDbXref UMLS:C0015634 semapv:UnspecifiedMatching -orphanet.ordo:99907 House allergic alveolitis oboInOwl:hasDbXref ICD10:J67.8 semapv:UnspecifiedMatching -orphanet.ordo:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref ICD10:J67.2 semapv:UnspecifiedMatching -orphanet.ordo:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MESH:D001716 semapv:UnspecifiedMatching -orphanet.ordo:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MeSH:D001716 semapv:UnspecifiedMatching -orphanet.ordo:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MedDRA:10004941 semapv:UnspecifiedMatching -orphanet.ordo:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref OMIM:145300 semapv:UnspecifiedMatching -orphanet.ordo:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref UMLS:C0031903 semapv:UnspecifiedMatching -orphanet.ordo:99912 Malignant dysgerminomatous germ cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching -orphanet.ordo:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching -orphanet.ordo:99914 Gynandroblastoma oboInOwl:hasDbXref UMLS:C0018413 semapv:UnspecifiedMatching -orphanet.ordo:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref MESH:D006106 semapv:UnspecifiedMatching -orphanet.ordo:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref MeSH:D006106 semapv:UnspecifiedMatching -orphanet.ordo:99915 Maligant granulosa cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0334401 semapv:UnspecifiedMatching -orphanet.ordo:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -orphanet.ordo:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching -orphanet.ordo:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044251 semapv:UnspecifiedMatching -orphanet.ordo:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref UMLS:C0343532 semapv:UnspecifiedMatching -orphanet.ordo:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching -orphanet.ordo:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044250 semapv:UnspecifiedMatching -orphanet.ordo:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref UMLS:C3714602 semapv:UnspecifiedMatching -orphanet.ordo:99920 Acute graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching -orphanet.ordo:99920 Acute graft versus host disease oboInOwl:hasDbXref MedDRA:10066260 semapv:UnspecifiedMatching -orphanet.ordo:99920 Acute graft versus host disease oboInOwl:hasDbXref UMLS:C0856825 semapv:UnspecifiedMatching -orphanet.ordo:99921 Chronic graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching -orphanet.ordo:99921 Chronic graft versus host disease oboInOwl:hasDbXref MESH:D006086 semapv:UnspecifiedMatching -orphanet.ordo:99921 Chronic graft versus host disease oboInOwl:hasDbXref MeSH:D006086 semapv:UnspecifiedMatching -orphanet.ordo:99921 Chronic graft versus host disease oboInOwl:hasDbXref MedDRA:10066261 semapv:UnspecifiedMatching -orphanet.ordo:99921 Chronic graft versus host disease oboInOwl:hasDbXref UMLS:C0867389 semapv:UnspecifiedMatching -orphanet.ordo:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:H13.3* semapv:UnspecifiedMatching -orphanet.ordo:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:L12+ semapv:UnspecifiedMatching -orphanet.ordo:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref MedDRA:10067776 semapv:UnspecifiedMatching -orphanet.ordo:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C0157721 semapv:UnspecifiedMatching -orphanet.ordo:99925 Invasive mole oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching -orphanet.ordo:99925 Invasive mole oboInOwl:hasDbXref UMLS:C0008493 semapv:UnspecifiedMatching -orphanet.ordo:99926 Gestational choriocarcinoma oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching -orphanet.ordo:99926 Gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C0349557 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.9 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref MESH:D006828 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref MeSH:D006828 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref MedDRA:10020481 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching -orphanet.ordo:99927 Hydatidiform mole oboInOwl:hasDbXref UMLS:C0020217 semapv:UnspecifiedMatching -orphanet.ordo:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching -orphanet.ordo:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref MESH:D018245 semapv:UnspecifiedMatching -orphanet.ordo:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref MeSH:D018245 semapv:UnspecifiedMatching -orphanet.ordo:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref UMLS:C0206666 semapv:UnspecifiedMatching -orphanet.ordo:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching -orphanet.ordo:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref MeSH:C536281 semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching -orphanet.ordo:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C0020807 semapv:UnspecifiedMatching -orphanet.ordo:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching -orphanet.ordo:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching -orphanet.ordo:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching -orphanet.ordo:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching -orphanet.ordo:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -orphanet.ordo:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -orphanet.ordo:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -orphanet.ordo:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -orphanet.ordo:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching -orphanet.ordo:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref OMIM:600882 semapv:UnspecifiedMatching -orphanet.ordo:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref UMLS:C1833219 semapv:UnspecifiedMatching -orphanet.ordo:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref OMIM:606071 semapv:UnspecifiedMatching -orphanet.ordo:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref UMLS:C1853710 semapv:UnspecifiedMatching -orphanet.ordo:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref OMIM:601472 semapv:UnspecifiedMatching -orphanet.ordo:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref UMLS:C1832274 semapv:UnspecifiedMatching -orphanet.ordo:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 semapv:UnspecifiedMatching -orphanet.ordo:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref UMLS:C1843225 semapv:UnspecifiedMatching -orphanet.ordo:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref OMIM:606595 semapv:UnspecifiedMatching -orphanet.ordo:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref UMLS:C1847823 semapv:UnspecifiedMatching -orphanet.ordo:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching -orphanet.ordo:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref UMLS:C1837805 semapv:UnspecifiedMatching -orphanet.ordo:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref OMIM:607677 semapv:UnspecifiedMatching -orphanet.ordo:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref UMLS:C3888087 semapv:UnspecifiedMatching -orphanet.ordo:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref OMIM:607736 semapv:UnspecifiedMatching -orphanet.ordo:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref UMLS:C1843153 semapv:UnspecifiedMatching -orphanet.ordo:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching -orphanet.ordo:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref UMLS:C1842984 semapv:UnspecifiedMatching -orphanet.ordo:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref OMIM:608673 semapv:UnspecifiedMatching -orphanet.ordo:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref UMLS:C3888087 semapv:UnspecifiedMatching -orphanet.ordo:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref OMIM:118210 semapv:UnspecifiedMatching -orphanet.ordo:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref UMLS:C1861678 semapv:UnspecifiedMatching -orphanet.ordo:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref OMIM:609260 semapv:UnspecifiedMatching -orphanet.ordo:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref UMLS:C1836485 semapv:UnspecifiedMatching -orphanet.ordo:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MESH:C535419 semapv:UnspecifiedMatching -orphanet.ordo:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MeSH:C535419 semapv:UnspecifiedMatching -orphanet.ordo:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 semapv:UnspecifiedMatching -orphanet.ordo:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref UMLS:C1859198 semapv:UnspecifiedMatching -orphanet.ordo:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref MESH:C535423 semapv:UnspecifiedMatching -orphanet.ordo:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref MeSH:C535423 semapv:UnspecifiedMatching -orphanet.ordo:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref OMIM:601596 semapv:UnspecifiedMatching -orphanet.ordo:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref UMLS:C1866636 semapv:UnspecifiedMatching -orphanet.ordo:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref MESH:C535716 semapv:UnspecifiedMatching -orphanet.ordo:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref MeSH:C535716 semapv:UnspecifiedMatching -orphanet.ordo:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref OMIM:601455 semapv:UnspecifiedMatching -orphanet.ordo:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref UMLS:C1832334 semapv:UnspecifiedMatching -orphanet.ordo:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref MESH:C535301 semapv:UnspecifiedMatching -orphanet.ordo:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref MeSH:C535301 semapv:UnspecifiedMatching -orphanet.ordo:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref OMIM:605253 semapv:UnspecifiedMatching -orphanet.ordo:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref OMIM:614895 semapv:UnspecifiedMatching -orphanet.ordo:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref OMIM:605285 semapv:UnspecifiedMatching -orphanet.ordo:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref UMLS:C1854449 semapv:UnspecifiedMatching -orphanet.ordo:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref OMIM:609311 semapv:UnspecifiedMatching -orphanet.ordo:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref UMLS:C1836336 semapv:UnspecifiedMatching -orphanet.ordo:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MESH:C535420 semapv:UnspecifiedMatching -orphanet.ordo:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MeSH:C535420 semapv:UnspecifiedMatching -orphanet.ordo:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref OMIM:601382 semapv:UnspecifiedMatching -orphanet.ordo:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref UMLS:C1832399 semapv:UnspecifiedMatching -orphanet.ordo:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -orphanet.ordo:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 semapv:UnspecifiedMatching -orphanet.ordo:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MeSH:C535421 semapv:UnspecifiedMatching -orphanet.ordo:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 semapv:UnspecifiedMatching -orphanet.ordo:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref UMLS:C1858278 semapv:UnspecifiedMatching -orphanet.ordo:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching -orphanet.ordo:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref MESH:C535930 semapv:UnspecifiedMatching -orphanet.ordo:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref MeSH:C535930 semapv:UnspecifiedMatching -orphanet.ordo:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching -orphanet.ordo:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref UMLS:C1855731 semapv:UnspecifiedMatching -orphanet.ordo:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching -orphanet.ordo:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref MESH:C535931 semapv:UnspecifiedMatching -orphanet.ordo:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref MeSH:C535931 semapv:UnspecifiedMatching -orphanet.ordo:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching -orphanet.ordo:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref UMLS:C3489789 semapv:UnspecifiedMatching -orphanet.ordo:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching -orphanet.ordo:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref MedDRA:10069682 semapv:UnspecifiedMatching -orphanet.ordo:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref UMLS:C2721741 semapv:UnspecifiedMatching -orphanet.ordo:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching -orphanet.ordo:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching -orphanet.ordo:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref MeSH:D018208 semapv:UnspecifiedMatching -orphanet.ordo:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching -orphanet.ordo:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref UMLS:C0206634 semapv:UnspecifiedMatching -orphanet.ordo:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref UMLS:C0205825 semapv:UnspecifiedMatching -orphanet.ordo:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref UMLS:C0205824 semapv:UnspecifiedMatching -orphanet.ordo:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching -orphanet.ordo:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref UMLS:C1370889 semapv:UnspecifiedMatching -orphanet.ordo:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching -orphanet.ordo:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching -orphanet.ordo:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref OMIM:614266 semapv:UnspecifiedMatching -orphanet.ordo:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279628 semapv:UnspecifiedMatching -orphanet.ordo:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching -orphanet.ordo:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching -orphanet.ordo:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching -orphanet.ordo:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching -orphanet.ordo:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref OMIM:133239 semapv:UnspecifiedMatching -orphanet.ordo:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279626 semapv:UnspecifiedMatching -orphanet.ordo:99978 Klatskin tumor oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching -orphanet.ordo:99978 Klatskin tumor oboInOwl:hasDbXref MESH:D018285 semapv:UnspecifiedMatching -orphanet.ordo:99978 Klatskin tumor oboInOwl:hasDbXref MeSH:D018285 semapv:UnspecifiedMatching -orphanet.ordo:99978 Klatskin tumor oboInOwl:hasDbXref UMLS:C0206702 semapv:UnspecifiedMatching -orphanet.ordo:99981 Apnea of prematurity oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching -orphanet.ordo:99981 Apnea of prematurity oboInOwl:hasDbXref UMLS:C0475715 semapv:UnspecifiedMatching -orphanet.ordo:99983 Cutaneous myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching -orphanet.ordo:99983 Cutaneous myiasis oboInOwl:hasDbXref UMLS:C0027031 semapv:UnspecifiedMatching -orphanet.ordo:99989 Intermediate DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching -orphanet.ordo:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching -orphanet.ordo:99990 Brill-Zinsser disease oboInOwl:hasDbXref UMLS:C0006181 semapv:UnspecifiedMatching -orphanet.ordo:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching -orphanet.ordo:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching -orphanet.ordo:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref MedDRA:10064335 semapv:UnspecifiedMatching -orphanet.ordo:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref UMLS:C0007462 semapv:UnspecifiedMatching -orphanet.ordo:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching -orphanet.ordo:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref MedDRA:10064334 semapv:UnspecifiedMatching -orphanet.ordo:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching -orphanet.ordo:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref UMLS:C0034931 semapv:UnspecifiedMatching +Orphanet:10 48,XXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:10 48,XXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:10 48,XXYY syndrome oboInOwl:hasDbXref MESH:D007713 semapv:UnspecifiedMatching +Orphanet:10 48,XXYY syndrome oboInOwl:hasDbXref MedDRA:10048230 semapv:UnspecifiedMatching +Orphanet:10 48,XXYY syndrome oboInOwl:hasDbXref UMLS:C2936741 semapv:UnspecifiedMatching +Orphanet:10 48,XXYY syndrome oboInOwl:hasDbXref icd11:LD50.3Y semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref MESH:D001260 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref MedDRA:10003594 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208900 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref OMIM:208910 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref UMLS:C0004135 semapv:UnspecifiedMatching +Orphanet:100 Ataxia-telangiectasia oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref MESH:C537043 semapv:UnspecifiedMatching +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref OMIM:300650 semapv:UnspecifiedMatching +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness oboInOwl:hasDbXref UMLS:C1845069 semapv:UnspecifiedMatching +Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100000 Reticular perineurioma oboInOwl:hasDbXref UMLS:C5681810 semapv:UnspecifiedMatching +Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100001 Sclerosing perineurioma oboInOwl:hasDbXref UMLS:C5681811 semapv:UnspecifiedMatching +Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100002 Extraneural perineurioma oboInOwl:hasDbXref UMLS:C4708595 semapv:UnspecifiedMatching +Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:100003 Intraneural perineurioma oboInOwl:hasDbXref UMLS:C1370658 semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref UMLS:C2931672 semapv:UnspecifiedMatching +Orphanet:100006 ABeta amyloidosis, Dutch type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref UMLS:C1527338 semapv:UnspecifiedMatching +Orphanet:100008 ACys amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A oboInOwl:hasDbXref UMLS:C5191423 semapv:UnspecifiedMatching +Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B oboInOwl:hasDbXref UMLS:C4274993 semapv:UnspecifiedMatching +Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C oboInOwl:hasDbXref UMLS:C4274992 semapv:UnspecifiedMatching +Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D oboInOwl:hasDbXref UMLS:C4274991 semapv:UnspecifiedMatching +Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E oboInOwl:hasDbXref UMLS:C5191422 semapv:UnspecifiedMatching +Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref UMLS:C4274989 semapv:UnspecifiedMatching +Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref UMLS:C1318550 semapv:UnspecifiedMatching +Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching +Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref UMLS:C1318551 semapv:UnspecifiedMatching +Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching +Orphanet:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching +Orphanet:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching +Orphanet:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref icd11:2A83.2 semapv:UnspecifiedMatching +Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching +Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching +Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref icd11:2A83.2 semapv:UnspecifiedMatching +Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching +Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref UMLS:C0242310 semapv:UnspecifiedMatching +Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref icd11:2A84.2 semapv:UnspecifiedMatching +Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref icd11:XH2JK2 semapv:UnspecifiedMatching +Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching +Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref MESH:D007161 semapv:UnspecifiedMatching +Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref UMLS:C0021071 semapv:UnspecifiedMatching +Orphanet:100025 Alpha-heavy chain disease oboInOwl:hasDbXref icd11:2A84.0 semapv:UnspecifiedMatching +Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching +Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref UMLS:C0018854 semapv:UnspecifiedMatching +Orphanet:100026 Gamma-heavy chain disease oboInOwl:hasDbXref icd11:2A84.1 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref MESH:C538240 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104530 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204650 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617297 semapv:UnspecifiedMatching +Orphanet:100031 Hypoplastic amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399367 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref MESH:C562880 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:130900 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617607 semapv:UnspecifiedMatching +Orphanet:100032 Hypocalcified amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399376 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref MESH:C536606 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204700 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301200 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:612529 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:613211 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:614832 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching +Orphanet:100033 Hypomaturation amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0399372 semapv:UnspecifiedMatching +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism oboInOwl:hasDbXref UMLS:C5680382 semapv:UnspecifiedMatching +Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref UMLS:C2960192 semapv:UnspecifiedMatching +Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref OMIM:177720 semapv:UnspecifiedMatching +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref MESH:C564702 semapv:UnspecifiedMatching +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:606483 semapv:UnspecifiedMatching +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C1847896 semapv:UnspecifiedMatching +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref MESH:C564703 semapv:UnspecifiedMatching +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref UMLS:C1847902 semapv:UnspecifiedMatching +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref MESH:C564257 semapv:UnspecifiedMatching +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:608323 semapv:UnspecifiedMatching +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref UMLS:C1842237 semapv:UnspecifiedMatching +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref MESH:C564333 semapv:UnspecifiedMatching +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:607791 semapv:UnspecifiedMatching +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref UMLS:C1843075 semapv:UnspecifiedMatching +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching +Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching +Orphanet:100047 Esophageal duplication cyst oboInOwl:hasDbXref UMLS:C4303524 semapv:UnspecifiedMatching +Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching +Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref ICD10:Q39.8 semapv:UnspecifiedMatching +Orphanet:100048 Tubular duplication of the esophagus oboInOwl:hasDbXref UMLS:C4274729 semapv:UnspecifiedMatching +Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies oboInOwl:hasDbXref UMLS:C5680383 semapv:UnspecifiedMatching +Orphanet:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:100050 Hereditary angioedema type 1 oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching +Orphanet:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:100051 Hereditary angioedema type 2 oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching +Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref MESH:D056828 semapv:UnspecifiedMatching +Orphanet:100054 F12-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching +Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100055 Acquired angioedema type 2 oboInOwl:hasDbXref UMLS:C5680381 semapv:UnspecifiedMatching +Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100056 Acquired angioedema type 1 oboInOwl:hasDbXref UMLS:C5680380 semapv:UnspecifiedMatching +Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref OMIM:300909 semapv:UnspecifiedMatching +Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref UMLS:C1268945 semapv:UnspecifiedMatching +Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema oboInOwl:hasDbXref icd11:EH61.1 semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:A39.1+ semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MESH:D014884 semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MedDRA:10047847 semapv:UnspecifiedMatching +Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref UMLS:C0043068 semapv:UnspecifiedMatching +Orphanet:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:100069 Semantic dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching +Orphanet:100069 Semantic dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching +Orphanet:100069 Semantic dementia oboInOwl:hasDbXref UMLS:C0338462 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MESH:D057178 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref MedDRA:10029542 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching +Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref UMLS:C0751706 semapv:UnspecifiedMatching +Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref UMLS:C4707012 semapv:UnspecifiedMatching +Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0751549 semapv:UnspecifiedMatching +Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref icd11:8B91.Y semapv:UnspecifiedMatching +Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref UMLS:C1333783 semapv:UnspecifiedMatching +Orphanet:100075 Neuroendocrine tumor of stomach oboInOwl:hasDbXref icd11:2B72.1 semapv:UnspecifiedMatching +Orphanet:100076 Duodenal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C4525619 semapv:UnspecifiedMatching +Orphanet:100078 Ileal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching +Orphanet:100078 Ileal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching +Orphanet:100078 Ileal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C4081841 semapv:UnspecifiedMatching +Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching +Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching +Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref UMLS:C1879718 semapv:UnspecifiedMatching +Orphanet:100079 Neuroendocrine neoplasm of appendix oboInOwl:hasDbXref icd11:2B81.2 semapv:UnspecifiedMatching +Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching +Orphanet:100080 Neuroendocrine tumor of the colon oboInOwl:hasDbXref UMLS:C1333097 semapv:UnspecifiedMatching +Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching +Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching +Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref MedDRA:10085767 semapv:UnspecifiedMatching +Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref UMLS:C5554035 semapv:UnspecifiedMatching +Orphanet:100081 Neuroendocrine tumor of the rectum oboInOwl:hasDbXref icd11:2B92.1 semapv:UnspecifiedMatching +Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching +Orphanet:100082 Neuroendocrine tumor of anal canal oboInOwl:hasDbXref UMLS:C3272849 semapv:UnspecifiedMatching +Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref ICD10:C32.1 semapv:UnspecifiedMatching +Orphanet:100083 Laryngeal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5681809 semapv:UnspecifiedMatching +Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref ICD10:C30.1 semapv:UnspecifiedMatching +Orphanet:100084 Middle ear neuroendocrine tumor oboInOwl:hasDbXref UMLS:C4305468 semapv:UnspecifiedMatching +Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:100085 Primary hepatic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C3273031 semapv:UnspecifiedMatching +Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref UMLS:C3273115 semapv:UnspecifiedMatching +Orphanet:100086 Gallbladder neuroendocrine tumor oboInOwl:hasDbXref icd11:2C13.Y semapv:UnspecifiedMatching +Orphanet:100087 Rare thyroid tumor oboInOwl:hasDbXref UMLS:C0040136 semapv:UnspecifiedMatching +Orphanet:100088 Rare thyroid carcinoma oboInOwl:hasDbXref UMLS:C0549473 semapv:UnspecifiedMatching +Orphanet:100090 Rare parathyroid tumor oboInOwl:hasDbXref UMLS:C5681807 semapv:UnspecifiedMatching +Orphanet:100091 Adrenal/paraganglial tumor oboInOwl:hasDbXref UMLS:C5681806 semapv:UnspecifiedMatching +Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref ICD10:E34.0 semapv:UnspecifiedMatching +Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref MESH:D008303 semapv:UnspecifiedMatching +Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref MedDRA:10007270 semapv:UnspecifiedMatching +Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref UMLS:C0024586 semapv:UnspecifiedMatching +Orphanet:100093 Carcinoid syndrome oboInOwl:hasDbXref icd11:5B10 semapv:UnspecifiedMatching +Orphanet:100094 Multiple polyglandular tumor oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching +Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv:UnspecifiedMatching +Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931817 semapv:UnspecifiedMatching +Orphanet:100100 Thymic tumor oboInOwl:hasDbXref MESH:D013953 semapv:UnspecifiedMatching +Orphanet:100100 Thymic tumor oboInOwl:hasDbXref UMLS:C3714644 semapv:UnspecifiedMatching +Orphanet:100101 Neuroendocrine tumor with other location oboInOwl:hasDbXref UMLS:C5681808 semapv:UnspecifiedMatching +Orphanet:1002 NON RARE IN EUROPE: Cluster headache oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching +Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref MESH:C536622 semapv:UnspecifiedMatching +Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:181250 semapv:UnspecifiedMatching +Orphanet:1003 Scalp defects-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C4511971 semapv:UnspecifiedMatching +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537051 semapv:UnspecifiedMatching +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:203550 semapv:UnspecifiedMatching +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4303742 semapv:UnspecifiedMatching +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref UMLS:C5190867 semapv:UnspecifiedMatching +Orphanet:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching +Orphanet:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537057 semapv:UnspecifiedMatching +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref OMIM:104130 semapv:UnspecifiedMatching +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1863090 semapv:UnspecifiedMatching +Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:100924 Porphyria due to ALA dehydratase deficiency oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching +Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching +Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref OMIM:309548 semapv:UnspecifiedMatching +Orphanet:100973 FRAXE intellectual disability oboInOwl:hasDbXref UMLS:C4274328 semapv:UnspecifiedMatching +Orphanet:100974 FRAXF syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching +Orphanet:100974 FRAXF syndrome oboInOwl:hasDbXref UMLS:C4274329 semapv:UnspecifiedMatching +Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching +Orphanet:100976 Bathing suit ichthyosis oboInOwl:hasDbXref UMLS:C4511230 semapv:UnspecifiedMatching +Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome oboInOwl:hasDbXref UMLS:C5190852 semapv:UnspecifiedMatching +Orphanet:100979 Autosomal dominant complex spastic paraplegia oboInOwl:hasDbXref UMLS:C5680379 semapv:UnspecifiedMatching +Orphanet:100980 Autosomal dominant pure spastic paraplegia oboInOwl:hasDbXref UMLS:C5680378 semapv:UnspecifiedMatching +Orphanet:100981 Autosomal recessive complex spastic paraplegia oboInOwl:hasDbXref UMLS:C5680377 semapv:UnspecifiedMatching +Orphanet:100982 Autosomal recessive pure spastic paraplegia oboInOwl:hasDbXref UMLS:C5680376 semapv:UnspecifiedMatching +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref MESH:C536864 semapv:UnspecifiedMatching +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref OMIM:182600 semapv:UnspecifiedMatching +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 oboInOwl:hasDbXref UMLS:C2931355 semapv:UnspecifiedMatching +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref MESH:C536865 semapv:UnspecifiedMatching +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref OMIM:182601 semapv:UnspecifiedMatching +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 oboInOwl:hasDbXref UMLS:C1866855 semapv:UnspecifiedMatching +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref MESH:C564811 semapv:UnspecifiedMatching +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref OMIM:270800 semapv:UnspecifiedMatching +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A oboInOwl:hasDbXref UMLS:C1849115 semapv:UnspecifiedMatching +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref MESH:C536866 semapv:UnspecifiedMatching +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref OMIM:600363 semapv:UnspecifiedMatching +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref UMLS:C1838192 semapv:UnspecifiedMatching +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref OMIM:603563 semapv:UnspecifiedMatching +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref UMLS:C1863704 semapv:UnspecifiedMatching +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref MESH:C537482 semapv:UnspecifiedMatching +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref OMIM:604187 semapv:UnspecifiedMatching +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 oboInOwl:hasDbXref UMLS:C1858712 semapv:UnspecifiedMatching +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref MESH:C537484 semapv:UnspecifiedMatching +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref OMIM:604805 semapv:UnspecifiedMatching +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 oboInOwl:hasDbXref UMLS:C1858106 semapv:UnspecifiedMatching +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref MESH:C537485 semapv:UnspecifiedMatching +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref OMIM:605280 semapv:UnspecifiedMatching +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 oboInOwl:hasDbXref UMLS:C1854467 semapv:UnspecifiedMatching +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref MESH:C537486 semapv:UnspecifiedMatching +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref OMIM:605229 semapv:UnspecifiedMatching +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 oboInOwl:hasDbXref UMLS:C1854568 semapv:UnspecifiedMatching +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref MESH:C536642 semapv:UnspecifiedMatching +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref OMIM:270700 semapv:UnspecifiedMatching +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 oboInOwl:hasDbXref UMLS:C1849128 semapv:UnspecifiedMatching +Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref MESH:C536643 semapv:UnspecifiedMatching +Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref OMIM:300266 semapv:UnspecifiedMatching +Orphanet:100997 X-linked spastic paraplegia type 16 oboInOwl:hasDbXref UMLS:C1846046 semapv:UnspecifiedMatching +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref MESH:C536644 semapv:UnspecifiedMatching +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref OMIM:270685 semapv:UnspecifiedMatching +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 oboInOwl:hasDbXref UMLS:C2931276 semapv:UnspecifiedMatching +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref MESH:C536856 semapv:UnspecifiedMatching +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref OMIM:607152 semapv:UnspecifiedMatching +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 oboInOwl:hasDbXref UMLS:C1846685 semapv:UnspecifiedMatching +Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref MedDRA:10075298 semapv:UnspecifiedMatching +Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref OMIM:125370 semapv:UnspecifiedMatching +Orphanet:101 Dentatorubral pallidoluysian atrophy oboInOwl:hasDbXref UMLS:C0751781 semapv:UnspecifiedMatching +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:104100 semapv:UnspecifiedMatching +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C4304669 semapv:UnspecifiedMatching +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref MESH:C536858 semapv:UnspecifiedMatching +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref OMIM:275900 semapv:UnspecifiedMatching +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 oboInOwl:hasDbXref UMLS:C0393559 semapv:UnspecifiedMatching +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref MESH:C565409 semapv:UnspecifiedMatching +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref OMIM:248900 semapv:UnspecifiedMatching +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 oboInOwl:hasDbXref UMLS:C1855346 semapv:UnspecifiedMatching +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref MESH:C536859 semapv:UnspecifiedMatching +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref OMIM:270750 semapv:UnspecifiedMatching +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 oboInOwl:hasDbXref UMLS:C0796019 semapv:UnspecifiedMatching +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref MESH:C564375 semapv:UnspecifiedMatching +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref OMIM:607584 semapv:UnspecifiedMatching +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 oboInOwl:hasDbXref UMLS:C1843569 semapv:UnspecifiedMatching +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref MESH:C536861 semapv:UnspecifiedMatching +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref OMIM:608220 semapv:UnspecifiedMatching +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 oboInOwl:hasDbXref UMLS:C2936860 semapv:UnspecifiedMatching +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref MESH:C536862 semapv:UnspecifiedMatching +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref OMIM:609195 semapv:UnspecifiedMatching +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 oboInOwl:hasDbXref UMLS:C1836632 semapv:UnspecifiedMatching +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref MESH:C563807 semapv:UnspecifiedMatching +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref OMIM:609041 semapv:UnspecifiedMatching +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 oboInOwl:hasDbXref UMLS:C1836899 semapv:UnspecifiedMatching +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref MESH:C563732 semapv:UnspecifiedMatching +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref OMIM:609340 semapv:UnspecifiedMatching +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 oboInOwl:hasDbXref UMLS:C1836295 semapv:UnspecifiedMatching +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref MESH:C536863 semapv:UnspecifiedMatching +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref OMIM:609727 semapv:UnspecifiedMatching +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 oboInOwl:hasDbXref UMLS:C1857855 semapv:UnspecifiedMatching +Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref OMIM:610357 semapv:UnspecifiedMatching +Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref UMLS:C5235139 semapv:UnspecifiedMatching +Orphanet:101010 Autosomal spastic paraplegia type 30 oboInOwl:hasDbXref icd11:8B44.0Y semapv:UnspecifiedMatching +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref MESH:C565210 semapv:UnspecifiedMatching +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref OMIM:610250 semapv:UnspecifiedMatching +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 oboInOwl:hasDbXref UMLS:C1853247 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref MESH:D029597 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref MedDRA:10039211 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:603830 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611818 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:611820 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:612955 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613693 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:613695 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching +Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref UMLS:C4551647 semapv:UnspecifiedMatching +Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching +Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref UMLS:C0272281 semapv:UnspecifiedMatching +Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref ICD10:Q35.1 semapv:UnspecifiedMatching +Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref UMLS:C0432090 semapv:UnspecifiedMatching +Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref MESH:C563207 semapv:UnspecifiedMatching +Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref OMIM:606003 semapv:UnspecifiedMatching +Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref UMLS:C1291329 semapv:UnspecifiedMatching +Orphanet:101028 Transaldolase deficiency oboInOwl:hasDbXref icd11:5C51.0 semapv:UnspecifiedMatching +Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:101029 Sub-cortical nodular heterotopia oboInOwl:hasDbXref UMLS:C5681805 semapv:UnspecifiedMatching +Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref MedDRA:10071150 semapv:UnspecifiedMatching +Orphanet:101030 Subependymal nodular heterotopia oboInOwl:hasDbXref UMLS:C3160906 semapv:UnspecifiedMatching +Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref MESH:C564715 semapv:UnspecifiedMatching +Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching +Orphanet:101039 Female restricted epilepsy with intellectual disability oboInOwl:hasDbXref UMLS:C1848137 semapv:UnspecifiedMatching +Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching +Orphanet:101041 Familial hypofibrinogenemia oboInOwl:hasDbXref UMLS:C5681803 semapv:UnspecifiedMatching +Orphanet:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching +Orphanet:101043 Congenital aortic valve dysplasia oboInOwl:hasDbXref UMLS:C5397239 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref MESH:C537297 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:600512 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616436 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref OMIM:616461 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref UMLS:C1838062 semapv:UnspecifiedMatching +Orphanet:101046 Autosomal dominant epilepsy with auditory features oboInOwl:hasDbXref icd11:8A61.3Y semapv:UnspecifiedMatching +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref MESH:C537146 semapv:UnspecifiedMatching +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref UMLS:C1840347 semapv:UnspecifiedMatching +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref MESH:C537147 semapv:UnspecifiedMatching +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref UMLS:C1833372 semapv:UnspecifiedMatching +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching +Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching +Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref UMLS:C0037221 semapv:UnspecifiedMatching +Orphanet:101063 Situs inversus totalis oboInOwl:hasDbXref icd11:LA82 semapv:UnspecifiedMatching +Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref MESH:C566452 semapv:UnspecifiedMatching +Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref OMIM:610048 semapv:UnspecifiedMatching +Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref UMLS:C1864738 semapv:UnspecifiedMatching +Orphanet:101068 Congenital stromal corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref MESH:C564652 semapv:UnspecifiedMatching +Orphanet:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref OMIM:606854 semapv:UnspecifiedMatching +Orphanet:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref UMLS:C1847352 semapv:UnspecifiedMatching +Orphanet:101070 Bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref UMLS:C5681804 semapv:UnspecifiedMatching +Orphanet:101071 Unilateral hemispheric polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref MESH:C535919 semapv:UnspecifiedMatching +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0393808 semapv:UnspecifiedMatching +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref MESH:C535302 semapv:UnspecifiedMatching +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:302801 semapv:UnspecifiedMatching +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C1844873 semapv:UnspecifiedMatching +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref MESH:C535303 semapv:UnspecifiedMatching +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref OMIM:302802 semapv:UnspecifiedMatching +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref UMLS:C1844865 semapv:UnspecifiedMatching +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref MESH:C536450 semapv:UnspecifiedMatching +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:310490 semapv:UnspecifiedMatching +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C0795910 semapv:UnspecifiedMatching +Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref OMIM:118220 semapv:UnspecifiedMatching +Orphanet:101081 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref UMLS:C0270911 semapv:UnspecifiedMatching +Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 semapv:UnspecifiedMatching +Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref UMLS:C0270912 semapv:UnspecifiedMatching +Orphanet:101082 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MESH:C537984 semapv:UnspecifiedMatching +Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 semapv:UnspecifiedMatching +Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref UMLS:C0270913 semapv:UnspecifiedMatching +Orphanet:101083 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MESH:C537985 semapv:UnspecifiedMatching +Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 semapv:UnspecifiedMatching +Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref UMLS:C1843247 semapv:UnspecifiedMatching +Orphanet:101084 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref MESH:C537987 semapv:UnspecifiedMatching +Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching +Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref UMLS:C1843164 semapv:UnspecifiedMatching +Orphanet:101085 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref MESH:D053307 semapv:UnspecifiedMatching +Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching +Orphanet:101088 X-linked hyper-IgM syndrome oboInOwl:hasDbXref UMLS:C0398689 semapv:UnspecifiedMatching +Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching +Orphanet:101089 Hyper-IgM syndrome type 2 oboInOwl:hasDbXref UMLS:C1720956 semapv:UnspecifiedMatching +Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching +Orphanet:101090 Hyper-IgM syndrome type 3 oboInOwl:hasDbXref UMLS:C1720957 semapv:UnspecifiedMatching +Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref MESH:C564277 semapv:UnspecifiedMatching +Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching +Orphanet:101091 Hyper-IgM syndrome type 4 oboInOwl:hasDbXref UMLS:C1842413 semapv:UnspecifiedMatching +Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching +Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref UMLS:C1720958 semapv:UnspecifiedMatching +Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref MedDRA:10054329 semapv:UnspecifiedMatching +Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref UMLS:C0553669 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref MESH:C535418 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607706 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref UMLS:C1842983 semapv:UnspecifiedMatching +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref MESH:C537053 semapv:UnspecifiedMatching +Orphanet:1011 Alopecia-hypogonadism-extrapyramidal syndrome oboInOwl:hasDbXref UMLS:C2931406 semapv:UnspecifiedMatching +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 semapv:UnspecifiedMatching +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 semapv:UnspecifiedMatching +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref UMLS:C1854150 semapv:UnspecifiedMatching +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref MESH:C535415 semapv:UnspecifiedMatching +Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref OMIM:607731 semapv:UnspecifiedMatching +Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref UMLS:C1843173 semapv:UnspecifiedMatching +Orphanet:101102 Charcot-Marie-Tooth disease type 2H oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref UMLS:C5681802 semapv:UnspecifiedMatching +Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref MESH:C542540 semapv:UnspecifiedMatching +Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching +Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref UMLS:C2746067 semapv:UnspecifiedMatching +Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref MESH:C537201 semapv:UnspecifiedMatching +Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref OMIM:610245 semapv:UnspecifiedMatching +Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref UMLS:C1853250 semapv:UnspecifiedMatching +Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref MESH:C537205 semapv:UnspecifiedMatching +Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref OMIM:610246 semapv:UnspecifiedMatching +Orphanet:101109 Spinocerebellar ataxia type 28 oboInOwl:hasDbXref UMLS:C1853249 semapv:UnspecifiedMatching +Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref MESH:C537199 semapv:UnspecifiedMatching +Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref OMIM:608687 semapv:UnspecifiedMatching +Orphanet:101110 Spinocerebellar ataxia type 20 oboInOwl:hasDbXref UMLS:C1837541 semapv:UnspecifiedMatching +Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref MESH:C537202 semapv:UnspecifiedMatching +Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref OMIM:608703 semapv:UnspecifiedMatching +Orphanet:101111 Spinocerebellar ataxia type 25 oboInOwl:hasDbXref UMLS:C1837518 semapv:UnspecifiedMatching +Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref MESH:C537203 semapv:UnspecifiedMatching +Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref OMIM:609306 semapv:UnspecifiedMatching +Orphanet:101112 Spinocerebellar ataxia type 26 oboInOwl:hasDbXref UMLS:C1836395 semapv:UnspecifiedMatching +Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref MESH:C537537 semapv:UnspecifiedMatching +Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref OMIM:605407 semapv:UnspecifiedMatching +Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C2673535 semapv:UnspecifiedMatching +Orphanet:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching +Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref UMLS:C4707896 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MESH:D017119 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref MedDRA:10036183 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0162566 semapv:UnspecifiedMatching +Orphanet:101330 Porphyria cutanea tarda oboInOwl:hasDbXref icd11:5C58.10 semapv:UnspecifiedMatching +Orphanet:101334 African tick typhus oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching +Orphanet:101334 African tick typhus oboInOwl:hasDbXref UMLS:C1320317 semapv:UnspecifiedMatching +Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching +Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref OMIM:271400 semapv:UnspecifiedMatching +Orphanet:101351 Familial isolated congenital asplenia oboInOwl:hasDbXref UMLS:C4512055 semapv:UnspecifiedMatching +Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:601217 semapv:UnspecifiedMatching +Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4303740 semapv:UnspecifiedMatching +Orphanet:101433 Rare urogenital disease oboInOwl:hasDbXref UMLS:C5681790 semapv:UnspecifiedMatching +Orphanet:101435 Rare genetic eye disease oboInOwl:hasDbXref UMLS:C5680375 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:101685 Rare non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C4751233 semapv:UnspecifiedMatching +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:150700 semapv:UnspecifiedMatching +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:308940 semapv:UnspecifiedMatching +Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref UMLS:C0398641 semapv:UnspecifiedMatching +Orphanet:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref UMLS:C3164517 semapv:UnspecifiedMatching +Orphanet:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref icd11:LA87.13 semapv:UnspecifiedMatching +Orphanet:101934 Genetic cardiac rhythm disease oboInOwl:hasDbXref UMLS:C5681782 semapv:UnspecifiedMatching +Orphanet:101936 Rare gastroesophageal disease oboInOwl:hasDbXref UMLS:C5681788 semapv:UnspecifiedMatching +Orphanet:101937 Rare pancreatic disease oboInOwl:hasDbXref UMLS:C5681789 semapv:UnspecifiedMatching +Orphanet:101938 Rare vascular liver disease oboInOwl:hasDbXref UMLS:C5681786 semapv:UnspecifiedMatching +Orphanet:101939 Rare parenchymal liver disease oboInOwl:hasDbXref UMLS:C5681787 semapv:UnspecifiedMatching +Orphanet:101940 Rare metabolic liver disease oboInOwl:hasDbXref MedDRA:10019689 semapv:UnspecifiedMatching +Orphanet:101940 Rare metabolic liver disease oboInOwl:hasDbXref UMLS:C5681784 semapv:UnspecifiedMatching +Orphanet:101941 Rare biliary tract disease oboInOwl:hasDbXref UMLS:C5681785 semapv:UnspecifiedMatching +Orphanet:101943 Rare hepatic and biliary tract tumor oboInOwl:hasDbXref UMLS:C5681783 semapv:UnspecifiedMatching +Orphanet:101944 Rare pulmonary disease oboInOwl:hasDbXref UMLS:C5681796 semapv:UnspecifiedMatching +Orphanet:101945 Rare bronchopulmonary tumor oboInOwl:hasDbXref UMLS:C5681795 semapv:UnspecifiedMatching +Orphanet:101950 Rare eye tumor oboInOwl:hasDbXref UMLS:C5681794 semapv:UnspecifiedMatching +Orphanet:101952 Rare diabetes mellitus oboInOwl:hasDbXref UMLS:C5681799 semapv:UnspecifiedMatching +Orphanet:101953 Rare dyslipidemia oboInOwl:hasDbXref UMLS:C5681798 semapv:UnspecifiedMatching +Orphanet:101954 Rare adrenal disease oboInOwl:hasDbXref UMLS:C5681801 semapv:UnspecifiedMatching +Orphanet:101955 Rare thyroid disease oboInOwl:hasDbXref UMLS:C5681800 semapv:UnspecifiedMatching +Orphanet:101956 Polyendocrinopathy oboInOwl:hasDbXref UMLS:C5681797 semapv:UnspecifiedMatching +Orphanet:101957 Pituitary deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:101957 Pituitary deficiency oboInOwl:hasDbXref UMLS:C0020635 semapv:UnspecifiedMatching +Orphanet:101958 Primary adrenal insufficiency oboInOwl:hasDbXref MedDRA:10052381 semapv:UnspecifiedMatching +Orphanet:101958 Primary adrenal insufficiency oboInOwl:hasDbXref UMLS:C3887896 semapv:UnspecifiedMatching +Orphanet:101960 Genetic chronic primary adrenal insufficiency oboInOwl:hasDbXref UMLS:C5681791 semapv:UnspecifiedMatching +Orphanet:101963 Acquired chronic primary adrenal insufficiency oboInOwl:hasDbXref UMLS:C5681792 semapv:UnspecifiedMatching +Orphanet:101972 Combined T and B cell immunodeficiency oboInOwl:hasDbXref ICD10:D81 semapv:UnspecifiedMatching +Orphanet:101972 Combined T and B cell immunodeficiency oboInOwl:hasDbXref ICD10:D81 semapv:UnspecifiedMatching +Orphanet:101972 Combined T and B cell immunodeficiency oboInOwl:hasDbXref UMLS:C5681793 semapv:UnspecifiedMatching +Orphanet:101972 Combined T and B cell immunodeficiency oboInOwl:hasDbXref icd11:4A01.1 semapv:UnspecifiedMatching +Orphanet:101977 Immunodeficiency predominantly affecting antibody production oboInOwl:hasDbXref UMLS:C5681776 semapv:UnspecifiedMatching +Orphanet:101977 Immunodeficiency predominantly affecting antibody production oboInOwl:hasDbXref icd11:4A01.0 semapv:UnspecifiedMatching +Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect oboInOwl:hasDbXref UMLS:C5681777 semapv:UnspecifiedMatching +Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity oboInOwl:hasDbXref UMLS:C5681778 semapv:UnspecifiedMatching +Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity oboInOwl:hasDbXref icd11:4A00 semapv:UnspecifiedMatching +Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref UMLS:C5681769 semapv:UnspecifiedMatching +Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref icd11:4A00.1 semapv:UnspecifiedMatching +Orphanet:101995 Periodic fever syndrome oboInOwl:hasDbXref MedDRA:10034533 semapv:UnspecifiedMatching +Orphanet:101995 Periodic fever syndrome oboInOwl:hasDbXref UMLS:C3889979 semapv:UnspecifiedMatching +Orphanet:101997 Primary immunodeficiency oboInOwl:hasDbXref MESH:D000081207 semapv:UnspecifiedMatching +Orphanet:101997 Primary immunodeficiency oboInOwl:hasDbXref MedDRA:10064859 semapv:UnspecifiedMatching +Orphanet:101997 Primary immunodeficiency oboInOwl:hasDbXref UMLS:C0398686 semapv:UnspecifiedMatching +Orphanet:101998 Rare epilepsy oboInOwl:hasDbXref UMLS:C5681770 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref MESH:D019578 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref MedDRA:10064060 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref OMIM:146500 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref UMLS:C0393571 semapv:UnspecifiedMatching +Orphanet:102 Multiple system atrophy oboInOwl:hasDbXref icd11:8D87.0 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104300 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:104310 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:602096 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:604154 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:605055 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:605526 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:606187 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:606889 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:607116 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:607822 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:609636 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:609790 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611073 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611152 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref OMIM:611154 semapv:UnspecifiedMatching +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease oboInOwl:hasDbXref UMLS:C0276496 semapv:UnspecifiedMatching +Orphanet:102000 Medullar disease oboInOwl:hasDbXref UMLS:C5681773 semapv:UnspecifiedMatching +Orphanet:102002 Rare ataxia oboInOwl:hasDbXref UMLS:C5681771 semapv:UnspecifiedMatching +Orphanet:102003 Rare movement disorder oboInOwl:hasDbXref UMLS:C5681772 semapv:UnspecifiedMatching +Orphanet:102005 Brain inflammatory disease oboInOwl:hasDbXref UMLS:C5681775 semapv:UnspecifiedMatching +Orphanet:102006 Neurovascular malformation oboInOwl:hasDbXref UMLS:C5681774 semapv:UnspecifiedMatching +Orphanet:102009 Classic lissencephaly oboInOwl:hasDbXref UMLS:C0431375 semapv:UnspecifiedMatching +Orphanet:102010 Other syndrome with lissencephaly as a major feature oboInOwl:hasDbXref UMLS:C5681781 semapv:UnspecifiedMatching +Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref MESH:C566908 semapv:UnspecifiedMatching +Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref UMLS:C1969029 semapv:UnspecifiedMatching +Orphanet:102012 Pure hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0393555 semapv:UnspecifiedMatching +Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C5675009 semapv:UnspecifiedMatching +Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:C538640 semapv:UnspecifiedMatching +Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C2931907 semapv:UnspecifiedMatching +Orphanet:102020 Autosomal monosomy oboInOwl:hasDbXref UMLS:C0026499 semapv:UnspecifiedMatching +Orphanet:102021 Rickettsial disease oboInOwl:hasDbXref MESH:D012282 semapv:UnspecifiedMatching +Orphanet:102021 Rickettsial disease oboInOwl:hasDbXref UMLS:C0035585 semapv:UnspecifiedMatching +Orphanet:102022 Spotted fever rickettsiosis oboInOwl:hasDbXref UMLS:C5680374 semapv:UnspecifiedMatching +Orphanet:102022 Spotted fever rickettsiosis oboInOwl:hasDbXref icd11:1C31 semapv:UnspecifiedMatching +Orphanet:102023 Typhus-group rickettsiosis oboInOwl:hasDbXref UMLS:C0343758 semapv:UnspecifiedMatching +Orphanet:102023 Typhus-group rickettsiosis oboInOwl:hasDbXref icd11:1C30 semapv:UnspecifiedMatching +Orphanet:102024 Human herpesvirus 8-related disorder oboInOwl:hasDbXref UMLS:C5680371 semapv:UnspecifiedMatching +Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref MESH:C536604 semapv:UnspecifiedMatching +Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:204110 semapv:UnspecifiedMatching +Orphanet:1021 Amaurosis-hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C4303739 semapv:UnspecifiedMatching +Orphanet:102237 Unexplained periodic fever syndrome oboInOwl:hasDbXref UMLS:C5681779 semapv:UnspecifiedMatching +Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability oboInOwl:hasDbXref UMLS:C5680372 semapv:UnspecifiedMatching +Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability oboInOwl:hasDbXref UMLS:C5680373 semapv:UnspecifiedMatching +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref MESH:C536605 semapv:UnspecifiedMatching +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref UMLS:C1840362 semapv:UnspecifiedMatching +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:102369 Rare syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5681780 semapv:UnspecifiedMatching +Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching +Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent oboInOwl:hasDbXref UMLS:C1332234 semapv:UnspecifiedMatching +Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor oboInOwl:hasDbXref UMLS:C4707659 semapv:UnspecifiedMatching +Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref MESH:C563338 semapv:UnspecifiedMatching +Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref OMIM:601360 semapv:UnspecifiedMatching +Orphanet:1027 Autosomal recessive amelia oboInOwl:hasDbXref UMLS:C1832432 semapv:UnspecifiedMatching +Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation oboInOwl:hasDbXref UMLS:C5680370 semapv:UnspecifiedMatching +Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref MESH:C538245 semapv:UnspecifiedMatching +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref OMIM:104570 semapv:UnspecifiedMatching +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref UMLS:C1863006 semapv:UnspecifiedMatching +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref MESH:C538241 semapv:UnspecifiedMatching +Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching +Orphanet:1031 Enamel-renal syndrome oboInOwl:hasDbXref UMLS:C2931783 semapv:UnspecifiedMatching +Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref OMIM:249650 semapv:UnspecifiedMatching +Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref UMLS:C0796055 semapv:UnspecifiedMatching +Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref MedDRA:10051643 semapv:UnspecifiedMatching +Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C0003886 semapv:UnspecifiedMatching +Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref UMLS:C4275068 semapv:UnspecifiedMatching +Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref icd11:5C61.1 semapv:UnspecifiedMatching +Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:270420 semapv:UnspecifiedMatching +Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref OMIM:616868 semapv:UnspecifiedMatching +Orphanet:103908 Congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C0267663 semapv:UnspecifiedMatching +Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref MESH:C562603 semapv:UnspecifiedMatching +Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref OMIM:612119 semapv:UnspecifiedMatching +Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref UMLS:C0268187 semapv:UnspecifiedMatching +Orphanet:103909 Trehalase deficiency oboInOwl:hasDbXref icd11:5C61.3 semapv:UnspecifiedMatching +Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref UMLS:C4511238 semapv:UnspecifiedMatching +Orphanet:103910 Congenital enterocyte heparan sulfate deficiency oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref MESH:C564276 semapv:UnspecifiedMatching +Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref OMIM:608189 semapv:UnspecifiedMatching +Orphanet:103918 Tropical pancreatitis oboInOwl:hasDbXref UMLS:C1842402 semapv:UnspecifiedMatching +Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref MESH:D000081012 semapv:UnspecifiedMatching +Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref MedDRA:10069002 semapv:UnspecifiedMatching +Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref UMLS:C2609129 semapv:UnspecifiedMatching +Orphanet:103919 Autoimmune pancreatitis oboInOwl:hasDbXref icd11:DC33 semapv:UnspecifiedMatching +Orphanet:103920 Undetermined colitis oboInOwl:hasDbXref ICD10:K52.3 semapv:UnspecifiedMatching +Orphanet:103920 Undetermined colitis oboInOwl:hasDbXref ICD10:K52.3 semapv:UnspecifiedMatching +Orphanet:103920 Undetermined colitis oboInOwl:hasDbXref UMLS:C5681748 semapv:UnspecifiedMatching +Orphanet:103920 Undetermined colitis oboInOwl:hasDbXref icd11:DD72 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref MESH:D029242 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:308905 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:619382 semapv:UnspecifiedMatching +Orphanet:104 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C0917796 semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref MESH:C537351 semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref OMIM:613073 semapv:UnspecifiedMatching +Orphanet:1040 Metaphyseal anadysplasia oboInOwl:hasDbXref UMLS:C0432226 semapv:UnspecifiedMatching +Orphanet:104003 Congenital intestinal transport defect oboInOwl:hasDbXref UMLS:C5681747 semapv:UnspecifiedMatching +Orphanet:104004 Intestinal disease due to vitamin absorption anomaly oboInOwl:hasDbXref UMLS:C5681746 semapv:UnspecifiedMatching +Orphanet:104005 Intestinal disease due to fat malabsorption oboInOwl:hasDbXref UMLS:C5681745 semapv:UnspecifiedMatching +Orphanet:104006 Congenital intestinal disease due to an enzymatic defect oboInOwl:hasDbXref UMLS:C5681744 semapv:UnspecifiedMatching +Orphanet:104007 Congenital enteropathy involving intestinal mucosa development oboInOwl:hasDbXref UMLS:C5681743 semapv:UnspecifiedMatching +Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching +Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref MedDRA:10049416 semapv:UnspecifiedMatching +Orphanet:104008 Short bowel syndrome oboInOwl:hasDbXref UMLS:C0036992 semapv:UnspecifiedMatching +Orphanet:104009 Rare disease involving intestinal motility oboInOwl:hasDbXref UMLS:C5681742 semapv:UnspecifiedMatching +Orphanet:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MESH:D044483 semapv:UnspecifiedMatching +Orphanet:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref MedDRA:10057018 semapv:UnspecifiedMatching +Orphanet:104010 Intestinal polyposis syndrome oboInOwl:hasDbXref UMLS:C0345891 semapv:UnspecifiedMatching +Orphanet:104011 Rare tumor of intestine oboInOwl:hasDbXref UMLS:C5680369 semapv:UnspecifiedMatching +Orphanet:104012 Rare inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5681741 semapv:UnspecifiedMatching +Orphanet:104013 Metabolic disease with intestinal involvement oboInOwl:hasDbXref UMLS:C5681740 semapv:UnspecifiedMatching +Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref ICD10:D01.4 semapv:UnspecifiedMatching +Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref ICD10:D01.4 semapv:UnspecifiedMatching +Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref MedDRA:10073373 semapv:UnspecifiedMatching +Orphanet:104075 Adenocarcinoma of the small intestine oboInOwl:hasDbXref UMLS:C0278803 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref MedDRA:10041127 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref UMLS:C0920305 semapv:UnspecifiedMatching +Orphanet:104076 Leiomyosarcoma of small intestine oboInOwl:hasDbXref icd11:2B58.Y semapv:UnspecifiedMatching +Orphanet:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:104077 Myopathic intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C5681739 semapv:UnspecifiedMatching +Orphanet:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:104078 Unclassified intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C5681767 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.9 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P56.9 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref MESH:D015160 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref MedDRA:10020529 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref UMLS:C0020305 semapv:UnspecifiedMatching +Orphanet:1041 Hydrops fetalis oboInOwl:hasDbXref icd11:KA85.Y semapv:UnspecifiedMatching +Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref OMIM:600461 semapv:UnspecifiedMatching +Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome oboInOwl:hasDbXref UMLS:C4304746 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref MESH:D000756 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref MedDRA:10040661 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:182170 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:205950 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:300751 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref OMIM:619523 semapv:UnspecifiedMatching +Orphanet:1047 Sideroblastic anemia oboInOwl:hasDbXref UMLS:C0002896 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref OMIM:206500 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref OMIM:619452 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref UMLS:C5680972 semapv:UnspecifiedMatching +Orphanet:1048 Isolated anencephaly/exencephaly oboInOwl:hasDbXref icd11:LA00.Y semapv:UnspecifiedMatching +Orphanet:105 Atresia of urethra oboInOwl:hasDbXref ICD10:Q64.3 semapv:UnspecifiedMatching +Orphanet:105 Atresia of urethra oboInOwl:hasDbXref MedDRA:10064895 semapv:UnspecifiedMatching +Orphanet:105 Atresia of urethra oboInOwl:hasDbXref UMLS:C0345345 semapv:UnspecifiedMatching +Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref MESH:C535286 semapv:UnspecifiedMatching +Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref OMIM:122430 semapv:UnspecifiedMatching +Orphanet:1051 Ramos-Arroyo syndrome oboInOwl:hasDbXref UMLS:C2930866 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref MESH:C536682 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:257300 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:614114 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:617598 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:620153 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIM:620189 semapv:UnspecifiedMatching +Orphanet:1052 Mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref UMLS:C4551972 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MESH:C536535 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MedDRA:10077889 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref OMIM:618196 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref UMLS:C0431420 semapv:UnspecifiedMatching +Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref icd11:LA90.20 semapv:UnspecifiedMatching +Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref UMLS:C2239253 semapv:UnspecifiedMatching +Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref UMLS:C0344915 semapv:UnspecifiedMatching +Orphanet:1055 Congenital left ventricular aneurysm oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedMatching +Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref MESH:C536240 semapv:UnspecifiedMatching +Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref OMIM:112200 semapv:UnspecifiedMatching +Orphanet:1059 Blue rubber bleb nevus oboInOwl:hasDbXref UMLS:C0346072 semapv:UnspecifiedMatching +Orphanet:106 NON RARE IN EUROPE: Autism oboInOwl:hasDbXref ICD10:F84.0 semapv:UnspecifiedMatching +Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref MESH:C536364 semapv:UnspecifiedMatching +Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref OMIM:106070 semapv:UnspecifiedMatching +Orphanet:1062 Hereditary neurocutaneous malformation oboInOwl:hasDbXref UMLS:C5680615 semapv:UnspecifiedMatching +Orphanet:1063 Tufted angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:1063 Tufted angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:1063 Tufted angioma oboInOwl:hasDbXref MESH:C536924 semapv:UnspecifiedMatching +Orphanet:1063 Tufted angioma oboInOwl:hasDbXref OMIM:607859 semapv:UnspecifiedMatching +Orphanet:1063 Tufted angioma oboInOwl:hasDbXref UMLS:C0346073 semapv:UnspecifiedMatching +Orphanet:1063 Tufted angioma oboInOwl:hasDbXref icd11:2F2Y semapv:UnspecifiedMatching +Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref MESH:C536371 semapv:UnspecifiedMatching +Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref OMIM:206750 semapv:UnspecifiedMatching +Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome oboInOwl:hasDbXref UMLS:C4518585 semapv:UnspecifiedMatching +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536370 semapv:UnspecifiedMatching +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10083858 semapv:UnspecifiedMatching +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:206700 semapv:UnspecifiedMatching +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0431401 semapv:UnspecifiedMatching +Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching +Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome oboInOwl:hasDbXref UMLS:C4303736 semapv:UnspecifiedMatching +Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching +Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536568 semapv:UnspecifiedMatching +Orphanet:1068 Aniridia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931243 semapv:UnspecifiedMatching +Orphanet:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref MESH:C566281 semapv:UnspecifiedMatching +Orphanet:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref OMIM:106220 semapv:UnspecifiedMatching +Orphanet:1069 Aniridia-absent patella syndrome oboInOwl:hasDbXref UMLS:C1862868 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref MESH:D019280 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref MedDRA:10071135 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref OMIM:113650 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref OMIM:610896 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref UMLS:C0265234 semapv:UnspecifiedMatching +Orphanet:107 BOR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1070 Anisakiasis oboInOwl:hasDbXref ICD10:B81.0 semapv:UnspecifiedMatching +Orphanet:1070 Anisakiasis oboInOwl:hasDbXref ICD10:B81.0 semapv:UnspecifiedMatching +Orphanet:1070 Anisakiasis oboInOwl:hasDbXref MESH:D017129 semapv:UnspecifiedMatching +Orphanet:1070 Anisakiasis oboInOwl:hasDbXref MedDRA:10002533 semapv:UnspecifiedMatching +Orphanet:1070 Anisakiasis oboInOwl:hasDbXref UMLS:C0162576 semapv:UnspecifiedMatching +Orphanet:1070 Anisakiasis oboInOwl:hasDbXref icd11:1F61 semapv:UnspecifiedMatching +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C535847 semapv:UnspecifiedMatching +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:106260 semapv:UnspecifiedMatching +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C0406709 semapv:UnspecifiedMatching +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref OMIM:106250 semapv:UnspecifiedMatching +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1862866 semapv:UnspecifiedMatching +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref ICD10:K03.5 semapv:UnspecifiedMatching +Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref MESH:D020254 semapv:UnspecifiedMatching +Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref MedDRA:10044019 semapv:UnspecifiedMatching +Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref UMLS:C0155930 semapv:UnspecifiedMatching +Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537511 semapv:UnspecifiedMatching +Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref OMIM:188201 semapv:UnspecifiedMatching +Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931515 semapv:UnspecifiedMatching +Orphanet:108 Babesiosis oboInOwl:hasDbXref ICD10:B60.0 semapv:UnspecifiedMatching +Orphanet:108 Babesiosis oboInOwl:hasDbXref ICD10:B60.0 semapv:UnspecifiedMatching +Orphanet:108 Babesiosis oboInOwl:hasDbXref MESH:D001404 semapv:UnspecifiedMatching +Orphanet:108 Babesiosis oboInOwl:hasDbXref MedDRA:10003965 semapv:UnspecifiedMatching +Orphanet:108 Babesiosis oboInOwl:hasDbXref UMLS:C0004576 semapv:UnspecifiedMatching +Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref MedDRA:10061060 semapv:UnspecifiedMatching +Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref UMLS:C0158623 semapv:UnspecifiedMatching +Orphanet:1081 Coronary artery congenital malformation oboInOwl:hasDbXref icd11:LA8C semapv:UnspecifiedMatching +Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref OMIM:614019 semapv:UnspecifiedMatching +Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref OMIM:616212 semapv:UnspecifiedMatching +Orphanet:1083 Microlissencephaly oboInOwl:hasDbXref UMLS:C1956147 semapv:UnspecifiedMatching +Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects oboInOwl:hasDbXref UMLS:C4275151 semapv:UnspecifiedMatching +Orphanet:108959 Non-syndromic esophageal malformation oboInOwl:hasDbXref UMLS:C5681768 semapv:UnspecifiedMatching +Orphanet:108961 Syndromic esophageal malformation oboInOwl:hasDbXref UMLS:C5681763 semapv:UnspecifiedMatching +Orphanet:108963 Non-syndromic gastroduodenal malformation oboInOwl:hasDbXref UMLS:C5681764 semapv:UnspecifiedMatching +Orphanet:108965 Syndromic gastroduodenal malformation oboInOwl:hasDbXref UMLS:C5681765 semapv:UnspecifiedMatching +Orphanet:108967 Non-syndromic intestinal malformation oboInOwl:hasDbXref UMLS:C5681766 semapv:UnspecifiedMatching +Orphanet:108969 Syndromic intestinal malformation oboInOwl:hasDbXref UMLS:C5681760 semapv:UnspecifiedMatching +Orphanet:108971 Non-syndromic visceral malformation oboInOwl:hasDbXref UMLS:C5681761 semapv:UnspecifiedMatching +Orphanet:108973 Syndromic visceral malformation oboInOwl:hasDbXref UMLS:C5681762 semapv:UnspecifiedMatching +Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation oboInOwl:hasDbXref UMLS:C5681758 semapv:UnspecifiedMatching +Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation oboInOwl:hasDbXref UMLS:C5681759 semapv:UnspecifiedMatching +Orphanet:108989 Non-syndromic central nervous system malformation oboInOwl:hasDbXref UMLS:C5681757 semapv:UnspecifiedMatching +Orphanet:108991 Syndrome with a central nervous system malformation as a major feature oboInOwl:hasDbXref UMLS:C5681756 semapv:UnspecifiedMatching +Orphanet:108993 Non-syndromic respiratory or mediastinal malformation oboInOwl:hasDbXref UMLS:C5681753 semapv:UnspecifiedMatching +Orphanet:108995 Syndromic respiratory or mediastinal malformation oboInOwl:hasDbXref UMLS:C5681752 semapv:UnspecifiedMatching +Orphanet:108997 Rare anemia oboInOwl:hasDbXref UMLS:C5681755 semapv:UnspecifiedMatching +Orphanet:108999 Rare disorder due to toxic effects oboInOwl:hasDbXref UMLS:C5681754 semapv:UnspecifiedMatching +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref MedDRA:10080314 semapv:UnspecifiedMatching +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref UMLS:C0265326 semapv:UnspecifiedMatching +Orphanet:109007 Arthrogryposis syndrome oboInOwl:hasDbXref MESH:D001176 semapv:UnspecifiedMatching +Orphanet:109009 Syndrome with limb malformations as a major feature oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:109009 Syndrome with limb malformations as a major feature oboInOwl:hasDbXref UMLS:C5681750 semapv:UnspecifiedMatching +Orphanet:109011 Non-syndromic limb malformation oboInOwl:hasDbXref UMLS:C5681749 semapv:UnspecifiedMatching +Orphanet:1092 Renal-genital-middle ear anomalies oboInOwl:hasDbXref OMIM:267400 semapv:UnspecifiedMatching +Orphanet:1092 Renal-genital-middle ear anomalies oboInOwl:hasDbXref UMLS:C1849432 semapv:UnspecifiedMatching +Orphanet:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref MESH:C536948 semapv:UnspecifiedMatching +Orphanet:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref OMIM:607214 semapv:UnspecifiedMatching +Orphanet:1094 Anonychia-microcephaly syndrome oboInOwl:hasDbXref UMLS:C2931373 semapv:UnspecifiedMatching +Orphanet:11 Pentasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching +Orphanet:11 Pentasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching +Orphanet:11 Pentasomy X oboInOwl:hasDbXref MESH:C535319 semapv:UnspecifiedMatching +Orphanet:11 Pentasomy X oboInOwl:hasDbXref UMLS:C2937419 semapv:UnspecifiedMatching +Orphanet:11 Pentasomy X oboInOwl:hasDbXref icd11:LD50.Y semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MESH:D020788 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref MedDRA:10056715 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:209900 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:600151 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:605231 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615981 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615982 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615983 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615984 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615985 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615986 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615987 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615988 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615989 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615990 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615991 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615992 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615993 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615994 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615995 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:615996 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617119 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIM:617406 semapv:UnspecifiedMatching +Orphanet:110 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS:C0752166 semapv:UnspecifiedMatching +Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4304035 semapv:UnspecifiedMatching +Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref MESH:C537767 semapv:UnspecifiedMatching +Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref OMIM:600776 semapv:UnspecifiedMatching +Orphanet:1104 Anophthalmia plus syndrome oboInOwl:hasDbXref UMLS:C1833339 semapv:UnspecifiedMatching +Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref MESH:C537769 semapv:UnspecifiedMatching +Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref OMIM:206920 semapv:UnspecifiedMatching +Orphanet:1106 Microphthalmia with limb anomalies oboInOwl:hasDbXref UMLS:C0599973 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref MESH:D056889 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref MedDRA:10078537 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref OMIM:302060 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref UMLS:C0574083 semapv:UnspecifiedMatching +Orphanet:111 Barth syndrome oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537785 semapv:UnspecifiedMatching +Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:107500 semapv:UnspecifiedMatching +Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4706520 semapv:UnspecifiedMatching +Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref MESH:C535881 semapv:UnspecifiedMatching +Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref OMIM:207620 semapv:UnspecifiedMatching +Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1859754 semapv:UnspecifiedMatching +Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref OMIM:600384 semapv:UnspecifiedMatching +Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4304033 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref MedDRA:10002963 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref OMIM:107600 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref OMIM:600360 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref UMLS:C0282160 semapv:UnspecifiedMatching +Orphanet:1114 Aplasia cutis congenita oboInOwl:hasDbXref icd11:LC60 semapv:UnspecifiedMatching +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref MESH:C537788 semapv:UnspecifiedMatching +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref OMIM:207731 semapv:UnspecifiedMatching +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome oboInOwl:hasDbXref UMLS:C4304031 semapv:UnspecifiedMatching +Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref OMIM:601075 semapv:UnspecifiedMatching +Orphanet:1117 Aplasia cutis-myopia syndrome oboInOwl:hasDbXref UMLS:C4304032 semapv:UnspecifiedMatching +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C537930 semapv:UnspecifiedMatching +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:113310 semapv:UnspecifiedMatching +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C4303759 semapv:UnspecifiedMatching +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref MESH:D001477 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref MedDRA:10050839 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:300971 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref UMLS:C0004775 semapv:UnspecifiedMatching +Orphanet:112 Bartter syndrome oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching +Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref OMIM:601612 semapv:UnspecifiedMatching +Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome oboInOwl:hasDbXref UMLS:C4302918 semapv:UnspecifiedMatching +Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome oboInOwl:hasDbXref UMLS:C5190823 semapv:UnspecifiedMatching +Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref MESH:C536936 semapv:UnspecifiedMatching +Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref OMIM:314360 semapv:UnspecifiedMatching +Orphanet:1122 Ulnar hypoplasia-split foot syndrome oboInOwl:hasDbXref UMLS:C4518553 semapv:UnspecifiedMatching +Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref MESH:C537713 semapv:UnspecifiedMatching +Orphanet:1123 Caudal appendage-deafness syndrome oboInOwl:hasDbXref UMLS:C2931593 semapv:UnspecifiedMatching +Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching +Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching +Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref MESH:C537423 semapv:UnspecifiedMatching +Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 semapv:UnspecifiedMatching +Orphanet:1125 Ocular motor apraxia, Cogan type oboInOwl:hasDbXref UMLS:C0543874 semapv:UnspecifiedMatching +Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref MESH:C563331 semapv:UnspecifiedMatching +Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref OMIM:601374 semapv:UnspecifiedMatching +Orphanet:1126 Aprosencephaly cerebellar dysgenesis oboInOwl:hasDbXref UMLS:C1832412 semapv:UnspecifiedMatching +Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537024 semapv:UnspecifiedMatching +Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931398 semapv:UnspecifiedMatching +Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref MESH:C537663 semapv:UnspecifiedMatching +Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref OMIM:301845 semapv:UnspecifiedMatching +Orphanet:113 Bazex-Dupré-Christol syndrome oboInOwl:hasDbXref UMLS:C0346104 semapv:UnspecifiedMatching +Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304030 semapv:UnspecifiedMatching +Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref MESH:C537102 semapv:UnspecifiedMatching +Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref OMIM:301950 semapv:UnspecifiedMatching +Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref UMLS:C1844918 semapv:UnspecifiedMatching +Orphanet:1131 X-linked mandibulofacial dysostosis oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:1132 Aortic arch defects oboInOwl:hasDbXref UMLS:C5680872 semapv:UnspecifiedMatching +Orphanet:1133 AREDYLD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1133 AREDYLD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1133 AREDYLD syndrome oboInOwl:hasDbXref MESH:C537427 semapv:UnspecifiedMatching +Orphanet:1133 AREDYLD syndrome oboInOwl:hasDbXref OMIM:207780 semapv:UnspecifiedMatching +Orphanet:1133 AREDYLD syndrome oboInOwl:hasDbXref UMLS:C0342280 semapv:UnspecifiedMatching +Orphanet:1133 AREDYLD syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1134 Isolated arrhinia oboInOwl:hasDbXref ICD10:Q30.1 semapv:UnspecifiedMatching +Orphanet:1134 Isolated arrhinia oboInOwl:hasDbXref ICD10:Q30.1 semapv:UnspecifiedMatching +Orphanet:1134 Isolated arrhinia oboInOwl:hasDbXref MESH:C537438 semapv:UnspecifiedMatching +Orphanet:1134 Isolated arrhinia oboInOwl:hasDbXref UMLS:C0265740 semapv:UnspecifiedMatching +Orphanet:1134 Isolated arrhinia oboInOwl:hasDbXref icd11:LA70.0 semapv:UnspecifiedMatching +Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching +Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref UMLS:C1863878 semapv:UnspecifiedMatching +Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref MESH:C538271 semapv:UnspecifiedMatching +Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref OMIM:109000 semapv:UnspecifiedMatching +Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref UMLS:C1862381 semapv:UnspecifiedMatching +Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:208100 semapv:UnspecifiedMatching +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1859721 semapv:UnspecifiedMatching +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref MESH:C535386 semapv:UnspecifiedMatching +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:108200 semapv:UnspecifiedMatching +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1862471 semapv:UnspecifiedMatching +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref MESH:C535380 semapv:UnspecifiedMatching +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref OMIM:301830 semapv:UnspecifiedMatching +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1844934 semapv:UnspecifiedMatching +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.Y semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref MESH:C535378 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:108120 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:126050 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:614335 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching +Orphanet:1146 Distal arthrogryposis type 1 oboInOwl:hasDbXref UMLS:C0220662 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref MESH:C538400 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:601680 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching +Orphanet:1147 Sheldon-Hall syndrome oboInOwl:hasDbXref UMLS:C1834523 semapv:UnspecifiedMatching +Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref MESH:C538124 semapv:UnspecifiedMatching +Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching +Orphanet:1149 Kuskokwim syndrome oboInOwl:hasDbXref UMLS:C1859709 semapv:UnspecifiedMatching +Orphanet:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref MESH:C536211 semapv:UnspecifiedMatching +Orphanet:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref OMIM:121050 semapv:UnspecifiedMatching +Orphanet:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS:C0220668 semapv:UnspecifiedMatching +Orphanet:115 Congenital contractural arachnodactyly oboInOwl:hasDbXref icd11:LD28.00 semapv:UnspecifiedMatching +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref MESH:C538401 semapv:UnspecifiedMatching +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref OMIM:208155 semapv:UnspecifiedMatching +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref UMLS:C1859711 semapv:UnspecifiedMatching +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref MESH:C537737 semapv:UnspecifiedMatching +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome oboInOwl:hasDbXref UMLS:C1862472 semapv:UnspecifiedMatching +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref MESH:C535387 semapv:UnspecifiedMatching +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref OMIM:208230 semapv:UnspecifiedMatching +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref UMLS:C0432215 semapv:UnspecifiedMatching +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MedDRA:10050344 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching +Orphanet:116 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0004903 semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref MESH:D002915 semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref MedDRA:10003446 semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref OMIM:208300 semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref UMLS:C0008732 semapv:UnspecifiedMatching +Orphanet:1160 Chylous ascites oboInOwl:hasDbXref icd11:DC51.0 semapv:UnspecifiedMatching +Orphanet:1162 NON RARE IN EUROPE: Asperger syndrome oboInOwl:hasDbXref ICD10:F84.5 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.0 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.1 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.2 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.7 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.7 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.8 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.8 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.9 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref ICD10:B44.9 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref MESH:D001228 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref MedDRA:10003488 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref OMIM:614079 semapv:UnspecifiedMatching +Orphanet:1163 Aspergillosis oboInOwl:hasDbXref UMLS:C0004030 semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:B44.1+ semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MedDRA:10006474 semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS:C0004031 semapv:UnspecifiedMatching +Orphanet:1164 Allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref icd11:CA82.4 semapv:UnspecifiedMatching +Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref MESH:C535349 semapv:UnspecifiedMatching +Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris oboInOwl:hasDbXref UMLS:C0431406 semapv:UnspecifiedMatching +Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref MESH:C538013 semapv:UnspecifiedMatching +Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref OMIM:208920 semapv:UnspecifiedMatching +Orphanet:1168 Ataxia-oculomotor apraxia type 1 oboInOwl:hasDbXref UMLS:C1859598 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref ICD10:M35.2 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref MedDRA:10004213 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching +Orphanet:117 Behçet disease oboInOwl:hasDbXref UMLS:C0004943 semapv:UnspecifiedMatching +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref MESH:C565865 semapv:UnspecifiedMatching +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref OMIM:213200 semapv:UnspecifiedMatching +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 oboInOwl:hasDbXref UMLS:C1859298 semapv:UnspecifiedMatching +Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref MESH:C535351 semapv:UnspecifiedMatching +Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref OMIM:601338 semapv:UnspecifiedMatching +Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome oboInOwl:hasDbXref UMLS:C1832466 semapv:UnspecifiedMatching +Orphanet:1172 Autosomal recessive cerebellar ataxia oboInOwl:hasDbXref UMLS:C5575375 semapv:UnspecifiedMatching +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref MESH:C565870 semapv:UnspecifiedMatching +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref OMIM:212840 semapv:UnspecifiedMatching +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref OMIM:605672 semapv:UnspecifiedMatching +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1859305 semapv:UnspecifiedMatching +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:C535350 semapv:UnspecifiedMatching +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:212835 semapv:UnspecifiedMatching +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1859306 semapv:UnspecifiedMatching +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching +Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching +Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C5231313 semapv:UnspecifiedMatching +Orphanet:1175 X-linked progressive cerebellar ataxia oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:117569 Rare intestinal disease oboInOwl:hasDbXref UMLS:C5681751 semapv:UnspecifiedMatching +Orphanet:117573 Syndromic anorectal malformation oboInOwl:hasDbXref UMLS:C5681738 semapv:UnspecifiedMatching +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref MESH:C535633 semapv:UnspecifiedMatching +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref OMIM:212895 semapv:UnspecifiedMatching +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref UMLS:C0393520 semapv:UnspecifiedMatching +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref OMIM:272600 semapv:UnspecifiedMatching +Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref UMLS:C5190865 semapv:UnspecifiedMatching +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref MESH:C566817 semapv:UnspecifiedMatching +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref OMIM:168885 semapv:UnspecifiedMatching +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref UMLS:C1868576 semapv:UnspecifiedMatching +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia oboInOwl:hasDbXref icd11:9C83.11 semapv:UnspecifiedMatching +Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 semapv:UnspecifiedMatching +Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 semapv:UnspecifiedMatching +Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref UMLS:C4048196 semapv:UnspecifiedMatching +Orphanet:118 Beta-mannosidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref MESH:C565850 semapv:UnspecifiedMatching +Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref OMIM:215470 semapv:UnspecifiedMatching +Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1859093 semapv:UnspecifiedMatching +Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref MESH:C566247 semapv:UnspecifiedMatching +Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref OMIM:108650 semapv:UnspecifiedMatching +Orphanet:1182 Spastic ataxia with congenital miosis oboInOwl:hasDbXref UMLS:C1862441 semapv:UnspecifiedMatching +Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MESH:D053578 semapv:UnspecifiedMatching +Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref MedDRA:10053854 semapv:UnspecifiedMatching +Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref UMLS:C0393626 semapv:UnspecifiedMatching +Orphanet:1183 Opsoclonus-myoclonus syndrome oboInOwl:hasDbXref icd11:9C85.02 semapv:UnspecifiedMatching +Orphanet:1184 Ataxia-photosensitivity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1184 Ataxia-photosensitivity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1184 Ataxia-photosensitivity-short stature syndrome oboInOwl:hasDbXref UMLS:C4751230 semapv:UnspecifiedMatching +Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:271270 semapv:UnspecifiedMatching +Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C0796166 semapv:UnspecifiedMatching +Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref MESH:C535523 semapv:UnspecifiedMatching +Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching +Orphanet:1186 Infantile-onset spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1849096 semapv:UnspecifiedMatching +Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref MESH:C535388 semapv:UnspecifiedMatching +Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching +Orphanet:1187 Lethal ataxia with deafness and optic atrophy oboInOwl:hasDbXref UMLS:C0796028 semapv:UnspecifiedMatching +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:208850 semapv:UnspecifiedMatching +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4304023 semapv:UnspecifiedMatching +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref MESH:C535902 semapv:UnspecifiedMatching +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref OMIM:604286 semapv:UnspecifiedMatching +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 oboInOwl:hasDbXref UMLS:C1858593 semapv:UnspecifiedMatching +Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref MESH:C535396 semapv:UnspecifiedMatching +Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref OMIM:108720 semapv:UnspecifiedMatching +Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref UMLS:C0265283 semapv:UnspecifiedMatching +Orphanet:1190 Atelosteogenesis type I oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref ICD10:I70.9 semapv:UnspecifiedMatching +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref ICD10:I70.9 semapv:UnspecifiedMatching +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref MESH:C536178 semapv:UnspecifiedMatching +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref OMIM:209010 semapv:UnspecifiedMatching +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome oboInOwl:hasDbXref UMLS:C2931125 semapv:UnspecifiedMatching +Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref MESH:C538195 semapv:UnspecifiedMatching +Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref OMIM:300431 semapv:UnspecifiedMatching +Orphanet:1193 Atkin-Flaitz syndrome oboInOwl:hasDbXref UMLS:C0796206 semapv:UnspecifiedMatching +Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref OMIM:614052 semapv:UnspecifiedMatching +Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref UMLS:C4273660 semapv:UnspecifiedMatching +Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref MESH:C538259 semapv:UnspecifiedMatching +Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref OMIM:209300 semapv:UnspecifiedMatching +Orphanet:1195 Congenital atransferrinemia oboInOwl:hasDbXref UMLS:C0521802 semapv:UnspecifiedMatching +Orphanet:1198 Colonic atresia oboInOwl:hasDbXref ICD10:Q42.9 semapv:UnspecifiedMatching +Orphanet:1198 Colonic atresia oboInOwl:hasDbXref ICD10:Q42.9 semapv:UnspecifiedMatching +Orphanet:1198 Colonic atresia oboInOwl:hasDbXref MESH:C562562 semapv:UnspecifiedMatching +Orphanet:1198 Colonic atresia oboInOwl:hasDbXref OMIM:303650 semapv:UnspecifiedMatching +Orphanet:1198 Colonic atresia oboInOwl:hasDbXref UMLS:C0266190 semapv:UnspecifiedMatching +Orphanet:1198 Colonic atresia oboInOwl:hasDbXref icd11:LB16.0 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.0 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.1 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref ICD10:Q39.1 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref MESH:D004933 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref MedDRA:10030146 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref OMIM:189960 semapv:UnspecifiedMatching +Orphanet:1199 Esophageal atresia oboInOwl:hasDbXref UMLS:C0014850 semapv:UnspecifiedMatching +Orphanet:120 NON RARE IN EUROPE: Pernicious anemia oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching +Orphanet:120 NON RARE IN EUROPE: Pernicious anemia oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching +Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref MESH:C537411 semapv:UnspecifiedMatching +Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching +Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref OMIM:616462 semapv:UnspecifiedMatching +Orphanet:1200 Burn-McKeown syndrome oboInOwl:hasDbXref UMLS:C1837822 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.1 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.1 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.2 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.2 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.8 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref ICD10:Q41.9 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref MESH:C538260 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref MedDRA:10010626 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref OMIM:243600 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref UMLS:C0266172 semapv:UnspecifiedMatching +Orphanet:1201 Small bowel atresia oboInOwl:hasDbXref icd11:LB15.1 semapv:UnspecifiedMatching +Orphanet:1202 Larynx atresia oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching +Orphanet:1202 Larynx atresia oboInOwl:hasDbXref OMIM:150300 semapv:UnspecifiedMatching +Orphanet:1202 Larynx atresia oboInOwl:hasDbXref UMLS:C0265756 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref ICD10:Q41.0 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref MESH:C535720 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref MedDRA:10013812 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref OMIM:223400 semapv:UnspecifiedMatching +Orphanet:1203 Duodenal atresia oboInOwl:hasDbXref UMLS:C0266174 semapv:UnspecifiedMatching +Orphanet:1205 Mitral atresia oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching +Orphanet:1205 Mitral atresia oboInOwl:hasDbXref UMLS:C0344760 semapv:UnspecifiedMatching +Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref ICD10:Q25.5 semapv:UnspecifiedMatching +Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref ICD10:Q25.5 semapv:UnspecifiedMatching +Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref MESH:C562833 semapv:UnspecifiedMatching +Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref OMIM:178370 semapv:UnspecifiedMatching +Orphanet:1207 Pulmonary atresia with ventricular septal defect oboInOwl:hasDbXref UMLS:C0344976 semapv:UnspecifiedMatching +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref MESH:C562832 semapv:UnspecifiedMatching +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref OMIM:265150 semapv:UnspecifiedMatching +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref UMLS:C0344975 semapv:UnspecifiedMatching +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome oboInOwl:hasDbXref icd11:LA8A.10 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref MESH:D018785 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref MedDRA:10049767 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref OMIM:605067 semapv:UnspecifiedMatching +Orphanet:1209 Tricuspid atresia oboInOwl:hasDbXref UMLS:C0243002 semapv:UnspecifiedMatching +Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref ICD10:G51.8 semapv:UnspecifiedMatching +Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref ICD10:G51.8 semapv:UnspecifiedMatching +Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref MedDRA:10073006 semapv:UnspecifiedMatching +Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref OMIM:141300 semapv:UnspecifiedMatching +Orphanet:1214 Progressive hemifacial atrophy oboInOwl:hasDbXref UMLS:C0015458 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:165199 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:616648 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS:C3276549 semapv:UnspecifiedMatching +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome oboInOwl:hasDbXref icd11:9C40.8 semapv:UnspecifiedMatching +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref MESH:C563981 semapv:UnspecifiedMatching +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref OMIM:600175 semapv:UnspecifiedMatching +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1838492 semapv:UnspecifiedMatching +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref MESH:C535625 semapv:UnspecifiedMatching +Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome oboInOwl:hasDbXref UMLS:C2930956 semapv:UnspecifiedMatching +Orphanet:1219 Aurocephalosyndactyly oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching +Orphanet:1219 Aurocephalosyndactyly oboInOwl:hasDbXref MedDRA:10000590 semapv:UnspecifiedMatching +Orphanet:1219 Aurocephalosyndactyly oboInOwl:hasDbXref OMIM:109050 semapv:UnspecifiedMatching +Orphanet:1219 Aurocephalosyndactyly oboInOwl:hasDbXref UMLS:C1862380 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref ICD10:C44.9 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref ICD10:C44.9 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MESH:D058249 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref MedDRA:10067736 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref OMIM:135150 semapv:UnspecifiedMatching +Orphanet:122 Birt-Hogg-Dubé syndrome oboInOwl:hasDbXref UMLS:C0346010 semapv:UnspecifiedMatching +Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref ICD10:K13.0 semapv:UnspecifiedMatching +Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref ICD10:K13.0 semapv:UnspecifiedMatching +Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref MESH:C535921 semapv:UnspecifiedMatching +Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref OMIM:118330 semapv:UnspecifiedMatching +Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref UMLS:C0267034 semapv:UnspecifiedMatching +Orphanet:1221 Cheilitis glandularis oboInOwl:hasDbXref icd11:DA00.0 semapv:UnspecifiedMatching +Orphanet:1223 Balantidiasis oboInOwl:hasDbXref ICD10:A07.0 semapv:UnspecifiedMatching +Orphanet:1223 Balantidiasis oboInOwl:hasDbXref ICD10:A07.0 semapv:UnspecifiedMatching +Orphanet:1223 Balantidiasis oboInOwl:hasDbXref MESH:D001447 semapv:UnspecifiedMatching +Orphanet:1223 Balantidiasis oboInOwl:hasDbXref MedDRA:10004080 semapv:UnspecifiedMatching +Orphanet:1223 Balantidiasis oboInOwl:hasDbXref UMLS:C0004692 semapv:UnspecifiedMatching +Orphanet:1223 Balantidiasis oboInOwl:hasDbXref icd11:1A30 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref MESH:C536788 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref MedDRA:10083963 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching +Orphanet:1225 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS:C0265308 semapv:UnspecifiedMatching +Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref MESH:C537901 semapv:UnspecifiedMatching +Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref OMIM:241850 semapv:UnspecifiedMatching +Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref UMLS:C1855794 semapv:UnspecifiedMatching +Orphanet:1226 Bamforth-Lazarus syndrome oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching +Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref ICD10:E31.8 semapv:UnspecifiedMatching +Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref ICD10:E31.8 semapv:UnspecifiedMatching +Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref MESH:C537902 semapv:UnspecifiedMatching +Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref OMIM:210740 semapv:UnspecifiedMatching +Orphanet:1227 Bangstad syndrome oboInOwl:hasDbXref UMLS:C0342284 semapv:UnspecifiedMatching +Orphanet:1228 Banki syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:1228 Banki syndrome oboInOwl:hasDbXref MESH:C566228 semapv:UnspecifiedMatching +Orphanet:1228 Banki syndrome oboInOwl:hasDbXref OMIM:109300 semapv:UnspecifiedMatching +Orphanet:1228 Banki syndrome oboInOwl:hasDbXref UMLS:C1862319 semapv:UnspecifiedMatching +Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref MESH:C537905 semapv:UnspecifiedMatching +Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref OMIM:251290 semapv:UnspecifiedMatching +Orphanet:1229 Congenital intrauterine infection-like syndrome oboInOwl:hasDbXref UMLS:C2931662 semapv:UnspecifiedMatching +Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref MESH:C537633 semapv:UnspecifiedMatching +Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref OMIM:262000 semapv:UnspecifiedMatching +Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref UMLS:C0266006 semapv:UnspecifiedMatching +Orphanet:123 Björnstad syndrome oboInOwl:hasDbXref icd11:EC21.1 semapv:UnspecifiedMatching +Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching +Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref OMIM:209885 semapv:UnspecifiedMatching +Orphanet:1231 Barber-Say syndrome oboInOwl:hasDbXref UMLS:C1319466 semapv:UnspecifiedMatching +Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref MESH:C564874 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref OMIM:263650 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref OMIM:619339 semapv:UnspecifiedMatching +Orphanet:1234 Bartsocas-Papas syndrome oboInOwl:hasDbXref UMLS:C1849718 semapv:UnspecifiedMatching +Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome oboInOwl:hasDbXref UMLS:C5190778 semapv:UnspecifiedMatching +Orphanet:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref MESH:C537668 semapv:UnspecifiedMatching +Orphanet:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref OMIM:209970 semapv:UnspecifiedMatching +Orphanet:1237 Beemer-Ertbruggen syndrome oboInOwl:hasDbXref UMLS:C1859526 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref MESH:D029503 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref MedDRA:10062989 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:105650 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:300946 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:606129 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:606164 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:610629 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612527 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612528 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612561 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612562 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:612563 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:613308 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:613309 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:614900 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:615550 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:615909 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:617408 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:617409 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618310 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618312 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618313 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:620072 semapv:UnspecifiedMatching +Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref icd11:3A60.1 semapv:UnspecifiedMatching +Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref MESH:C537350 semapv:UnspecifiedMatching +Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref OMIM:250215 semapv:UnspecifiedMatching +Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref UMLS:C1855243 semapv:UnspecifiedMatching +Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching +Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref MESH:C564199 semapv:UnspecifiedMatching +Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref OMIM:141350 semapv:UnspecifiedMatching +Orphanet:1241 Bencze syndrome oboInOwl:hasDbXref UMLS:C1841640 semapv:UnspecifiedMatching +Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching +Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref UMLS:C0339510 semapv:UnspecifiedMatching +Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching +Orphanet:1245 BIDS syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching +Orphanet:1245 BIDS syndrome oboInOwl:hasDbXref UMLS:C3495483 semapv:UnspecifiedMatching +Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:113400 semapv:UnspecifiedMatching +Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref UMLS:C0344467 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.0 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.1 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.2 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.3 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.8 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.8 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.9 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref ICD10:B65.9 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref MESH:D012552 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref MedDRA:10039603 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching +Orphanet:1247 Schistosomiasis oboInOwl:hasDbXref UMLS:C0036323 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref MESH:C536036 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref MedDRA:10075843 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref OMIM:155050 semapv:UnspecifiedMatching +Orphanet:1248 Maxillonasal dysplasia oboInOwl:hasDbXref UMLS:C0220692 semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref MedDRA:10073032 semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref OMIM:210900 semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref UMLS:C0005859 semapv:UnspecifiedMatching +Orphanet:125 Bloom syndrome oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching +Orphanet:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref MESH:C536303 semapv:UnspecifiedMatching +Orphanet:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref OMIM:110050 semapv:UnspecifiedMatching +Orphanet:1252 Blepharonasofacial malformation syndrome oboInOwl:hasDbXref UMLS:C0796197 semapv:UnspecifiedMatching +Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref MESH:C562742 semapv:UnspecifiedMatching +Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref OMIM:109900 semapv:UnspecifiedMatching +Orphanet:1253 Ascher syndrome oboInOwl:hasDbXref UMLS:C0339085 semapv:UnspecifiedMatching +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref MESH:C536236 semapv:UnspecifiedMatching +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref OMIM:110150 semapv:UnspecifiedMatching +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref UMLS:C4303549 semapv:UnspecifiedMatching +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref MESH:C562419 semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref MedDRA:10081258 semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome oboInOwl:hasDbXref UMLS:C0220663 semapv:UnspecifiedMatching +Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref OMIM:225755 semapv:UnspecifiedMatching +Orphanet:1261 Bonnemann-Meinecke-Reich syndrome oboInOwl:hasDbXref UMLS:C4518560 semapv:UnspecifiedMatching +Orphanet:1262 Böök syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1262 Böök syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1262 Böök syndrome oboInOwl:hasDbXref MESH:C562993 semapv:UnspecifiedMatching +Orphanet:1262 Böök syndrome oboInOwl:hasDbXref OMIM:112300 semapv:UnspecifiedMatching +Orphanet:1262 Böök syndrome oboInOwl:hasDbXref UMLS:C0457014 semapv:UnspecifiedMatching +Orphanet:1262 Böök syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref MESH:C536573 semapv:UnspecifiedMatching +Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 semapv:UnspecifiedMatching +Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref UMLS:C0432201 semapv:UnspecifiedMatching +Orphanet:1263 Boomerang dysplasia oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref MESH:C536576 semapv:UnspecifiedMatching +Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref OMIM:191482 semapv:UnspecifiedMatching +Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref UMLS:C1860605 semapv:UnspecifiedMatching +Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching +Orphanet:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:1267 Botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching +Orphanet:1267 Botulism oboInOwl:hasDbXref MedDRA:10006041 semapv:UnspecifiedMatching +Orphanet:1267 Botulism oboInOwl:hasDbXref UMLS:C0006057 semapv:UnspecifiedMatching +Orphanet:1267 Botulism oboInOwl:hasDbXref icd11:1A11 semapv:UnspecifiedMatching +Orphanet:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MESH:C536575 semapv:UnspecifiedMatching +Orphanet:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref OMIM:301900 semapv:UnspecifiedMatching +Orphanet:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref UMLS:C0265339 semapv:UnspecifiedMatching +Orphanet:127 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref icd11:LD29 semapv:UnspecifiedMatching +Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref MESH:C537081 semapv:UnspecifiedMatching +Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref OMIM:211180 semapv:UnspecifiedMatching +Orphanet:1270 Bowen-Conradi syndrome oboInOwl:hasDbXref UMLS:C1859405 semapv:UnspecifiedMatching +Orphanet:1271 Bowen syndrome oboInOwl:hasDbXref OMIM:211200 semapv:UnspecifiedMatching +Orphanet:1271 Bowen syndrome oboInOwl:hasDbXref UMLS:C1859404 semapv:UnspecifiedMatching +Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref MESH:C537933 semapv:UnspecifiedMatching +Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:UnspecifiedMatching +Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601353 semapv:UnspecifiedMatching +Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref UMLS:C0795941 semapv:UnspecifiedMatching +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref MESH:C566090 semapv:UnspecifiedMatching +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref OMIM:186550 semapv:UnspecifiedMatching +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref UMLS:C1861313 semapv:UnspecifiedMatching +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref MESH:C537095 semapv:UnspecifiedMatching +Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref OMIM:112410 semapv:UnspecifiedMatching +Orphanet:1276 Brachydactyly-arterial hypertension syndrome oboInOwl:hasDbXref UMLS:C1862170 semapv:UnspecifiedMatching +Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome oboInOwl:hasDbXref UMLS:C4707567 semapv:UnspecifiedMatching +Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref OMIM:112450 semapv:UnspecifiedMatching +Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref UMLS:C4518542 semapv:UnspecifiedMatching +Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref ICD10:B70.0 semapv:UnspecifiedMatching +Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref ICD10:B70.0 semapv:UnspecifiedMatching +Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref MESH:D004169 semapv:UnspecifiedMatching +Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref MedDRA:10013029 semapv:UnspecifiedMatching +Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref UMLS:C0012561 semapv:UnspecifiedMatching +Orphanet:128 Diphyllobothriasis oboInOwl:hasDbXref icd11:1F71 semapv:UnspecifiedMatching +Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref ICD10:L66.0 semapv:UnspecifiedMatching +Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref ICD10:L66.0 semapv:UnspecifiedMatching +Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref UMLS:C0086873 semapv:UnspecifiedMatching +Orphanet:129 Pseudopelade of Brocq oboInOwl:hasDbXref icd11:ED70.5Y semapv:UnspecifiedMatching +Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref MESH:C536242 semapv:UnspecifiedMatching +Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref OMIM:113477 semapv:UnspecifiedMatching +Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome oboInOwl:hasDbXref UMLS:C1862082 semapv:UnspecifiedMatching +Orphanet:1293 Brachyolmia oboInOwl:hasDbXref MESH:C537098 semapv:UnspecifiedMatching +Orphanet:1293 Brachyolmia oboInOwl:hasDbXref MedDRA:10081832 semapv:UnspecifiedMatching +Orphanet:1293 Brachyolmia oboInOwl:hasDbXref UMLS:C0432228 semapv:UnspecifiedMatching +Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref OMIM:113480 semapv:UnspecifiedMatching +Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome oboInOwl:hasDbXref UMLS:C5680625 semapv:UnspecifiedMatching +Orphanet:1296 Lambert syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1296 Lambert syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1296 Lambert syndrome oboInOwl:hasDbXref MESH:C538396 semapv:UnspecifiedMatching +Orphanet:1296 Lambert syndrome oboInOwl:hasDbXref OMIM:245550 semapv:UnspecifiedMatching +Orphanet:1296 Lambert syndrome oboInOwl:hasDbXref UMLS:C1855551 semapv:UnspecifiedMatching +Orphanet:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref OMIM:113620 semapv:UnspecifiedMatching +Orphanet:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref UMLS:C0376524 semapv:UnspecifiedMatching +Orphanet:1297 Branchio-oculo-facial syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref MESH:C537084 semapv:UnspecifiedMatching +Orphanet:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching +Orphanet:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref UMLS:C0809936 semapv:UnspecifiedMatching +Orphanet:1299 Branchioskeletogenital syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref MESH:C535325 semapv:UnspecifiedMatching +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref OMIM:261640 semapv:UnspecifiedMatching +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref UMLS:C0878676 semapv:UnspecifiedMatching +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref MESH:D053840 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref MedDRA:10059027 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:601144 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611777 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611875 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:611876 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613119 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:613123 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref OMIM:616399 semapv:UnspecifiedMatching +Orphanet:130 Brugada syndrome oboInOwl:hasDbXref UMLS:C1142166 semapv:UnspecifiedMatching +Orphanet:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1300 Autosomal dominant popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:119500 semapv:UnspecifiedMatching +Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MESH:D018549 semapv:UnspecifiedMatching +Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref MedDRA:10011496 semapv:UnspecifiedMatching +Orphanet:1302 Cryptogenic organizing pneumonia oboInOwl:hasDbXref UMLS:C0242770 semapv:UnspecifiedMatching +Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching +Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref MedDRA:10029888 semapv:UnspecifiedMatching +Orphanet:1303 Bronchiolitis obliterans oboInOwl:hasDbXref UMLS:C5575762 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.0 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.1 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.2 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.3 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.8 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.8 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.9 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref ICD10:A23.9 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref MESH:D002006 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref MedDRA:10006500 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref UMLS:C0006309 semapv:UnspecifiedMatching +Orphanet:1304 Brucellosis oboInOwl:hasDbXref icd11:1B95 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref MESH:C537734 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref UMLS:C0796068 semapv:UnspecifiedMatching +Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching +Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref UMLS:C4302673 semapv:UnspecifiedMatching +Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref MESH:C537418 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref MedDRA:10083975 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref OMIM:211750 semapv:UnspecifiedMatching +Orphanet:1308 C syndrome oboInOwl:hasDbXref UMLS:C0796095 semapv:UnspecifiedMatching +Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref MESH:D007691 semapv:UnspecifiedMatching +Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref MedDRA:10027104 semapv:UnspecifiedMatching +Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref UMLS:C0022681 semapv:UnspecifiedMatching +Orphanet:1309 Medullary sponge kidney oboInOwl:hasDbXref icd11:LB30.8 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10:I82.0 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref MedDRA:10006537 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching +Orphanet:131 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0856761 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref MESH:D006958 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref MedDRA:10073206 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref OMIM:114000 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref UMLS:C0020497 semapv:UnspecifiedMatching +Orphanet:1310 Caffey disease oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref MESH:C535357 semapv:UnspecifiedMatching +Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref OMIM:215480 semapv:UnspecifiedMatching +Orphanet:1313 Infantile choroidocerebral calcification syndrome oboInOwl:hasDbXref UMLS:C1859092 semapv:UnspecifiedMatching +Orphanet:1314 Symmetrical thalamic calcifications oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:1314 Symmetrical thalamic calcifications oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:1314 Symmetrical thalamic calcifications oboInOwl:hasDbXref UMLS:C4304914 semapv:UnspecifiedMatching +Orphanet:1317 CAMFAK syndrome oboInOwl:hasDbXref OMIM:212540 semapv:UnspecifiedMatching +Orphanet:1317 CAMFAK syndrome oboInOwl:hasDbXref UMLS:C1859312 semapv:UnspecifiedMatching +Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref MESH:C537966 semapv:UnspecifiedMatching +Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref OMIM:211890 semapv:UnspecifiedMatching +Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref UMLS:C1859371 semapv:UnspecifiedMatching +Orphanet:1318 Campomelia, Cumming type oboInOwl:hasDbXref icd11:LD24.C semapv:UnspecifiedMatching +Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref MESH:C537967 semapv:UnspecifiedMatching +Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref OMIM:114150 semapv:UnspecifiedMatching +Orphanet:1319 Camptobrachydactyly oboInOwl:hasDbXref UMLS:C1861963 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref MESH:C537417 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref MedDRA:10062674 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref OMIM:617936 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref UMLS:C1283400 semapv:UnspecifiedMatching +Orphanet:132 Hereditary butyrylcholinesterase deficiency oboInOwl:hasDbXref icd11:5C59.Y semapv:UnspecifiedMatching +Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref ICD10:M43.8 semapv:UnspecifiedMatching +Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref MESH:C537968 semapv:UnspecifiedMatching +Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref MedDRA:10069646 semapv:UnspecifiedMatching +Orphanet:1320 Idiopathic camptocormia oboInOwl:hasDbXref UMLS:C0264162 semapv:UnspecifiedMatching +Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C537287 semapv:UnspecifiedMatching +Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:211930 semapv:UnspecifiedMatching +Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1859357 semapv:UnspecifiedMatching +Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref MESH:C535876 semapv:UnspecifiedMatching +Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref OMIM:602612 semapv:UnspecifiedMatching +Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome oboInOwl:hasDbXref UMLS:C2931051 semapv:UnspecifiedMatching +Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref MESH:C537972 semapv:UnspecifiedMatching +Orphanet:1325 Camptodactyly-taurinuria syndrome oboInOwl:hasDbXref UMLS:C4518792 semapv:UnspecifiedMatching +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref MESH:C537971 semapv:UnspecifiedMatching +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref OMIM:211920 semapv:UnspecifiedMatching +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 oboInOwl:hasDbXref UMLS:C2931680 semapv:UnspecifiedMatching +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref MESH:C537970 semapv:UnspecifiedMatching +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref OMIM:211910 semapv:UnspecifiedMatching +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 oboInOwl:hasDbXref UMLS:C1859359 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10:Q78.3 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref MESH:D003966 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref MedDRA:10087147 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS:C0011989 semapv:UnspecifiedMatching +Orphanet:1328 Camurati-Engelmann disease oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0344787 semapv:UnspecifiedMatching +Orphanet:1329 Complete atrioventricular septal defect oboInOwl:hasDbXref icd11:LA87.43 semapv:UnspecifiedMatching +Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref ICD10:J63.2 semapv:UnspecifiedMatching +Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref ICD10:J63.2 semapv:UnspecifiedMatching +Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref MESH:D001607 semapv:UnspecifiedMatching +Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref MedDRA:10004485 semapv:UnspecifiedMatching +Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref UMLS:C0221052 semapv:UnspecifiedMatching +Orphanet:133 Chronic beryllium disease oboInOwl:hasDbXref icd11:CA60.6 semapv:UnspecifiedMatching +Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref MESH:C536112 semapv:UnspecifiedMatching +Orphanet:1330 Partial atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0344735 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref MESH:C537243 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:176807 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:300147 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:300704 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:601518 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:602759 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:603688 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:608656 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:608658 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:609299 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:609558 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:610321 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:610997 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611100 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611868 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611928 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611955 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611958 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref OMIM:614731 semapv:UnspecifiedMatching +Orphanet:1331 Familial prostate cancer oboInOwl:hasDbXref UMLS:C2931456 semapv:UnspecifiedMatching +Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching +Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref MedDRA:10027101 semapv:UnspecifiedMatching +Orphanet:1332 Medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238462 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref ICD10:C25 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref MESH:C535837 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:606856 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:613347 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:613348 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref OMIM:614320 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref UMLS:C2931038 semapv:UnspecifiedMatching +Orphanet:1333 Familial pancreatic carcinoma oboInOwl:hasDbXref icd11:2C10.Z semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref ICD10:B37.2 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref ICD10:B37.2 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref MedDRA:10009007 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:114580 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:247650 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:252250 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:607644 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613108 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613953 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613956 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS:C0006845 semapv:UnspecifiedMatching +Orphanet:1334 Chronic mucocutaneous candidiasis oboInOwl:hasDbXref icd11:1F23.14 semapv:UnspecifiedMatching +Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref ICD10:Q89.7 semapv:UnspecifiedMatching +Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref ICD10:Q89.7 semapv:UnspecifiedMatching +Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref MESH:D058502 semapv:UnspecifiedMatching +Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref OMIM:313850 semapv:UnspecifiedMatching +Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref UMLS:C0559483 semapv:UnspecifiedMatching +Orphanet:1335 Pentalogy of Cantrell oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref MESH:C564172 semapv:UnspecifiedMatching +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:144190 semapv:UnspecifiedMatching +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome oboInOwl:hasDbXref UMLS:C1840428 semapv:UnspecifiedMatching +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C535849 semapv:UnspecifiedMatching +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:217085 semapv:UnspecifiedMatching +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C2931046 semapv:UnspecifiedMatching +Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref MESH:C535434 semapv:UnspecifiedMatching +Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref OMIM:203750 semapv:UnspecifiedMatching +Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS:C1536500 semapv:UnspecifiedMatching +Orphanet:134 Beta-ketothiolase deficiency oboInOwl:hasDbXref icd11:5C50.DY semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref MESH:C535579 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref MedDRA:10082805 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:115150 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615278 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615279 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIM:615280 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref UMLS:C1275081 semapv:UnspecifiedMatching +Orphanet:1340 Cardiofaciocutaneous syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref MESH:C535853 semapv:UnspecifiedMatching +Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref OMIM:140450 semapv:UnspecifiedMatching +Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref UMLS:C1841657 semapv:UnspecifiedMatching +Orphanet:1342 Heart-hand syndrome type 3 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref ICD10:I45.5 semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref ICD10:I45.5 semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref MedDRA:10087237 semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref OMIM:108770 semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref OMIM:615745 semapv:UnspecifiedMatching +Orphanet:1344 Atrial standstill oboInOwl:hasDbXref UMLS:C0541782 semapv:UnspecifiedMatching +Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref MESH:C537616 semapv:UnspecifiedMatching +Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome oboInOwl:hasDbXref UMLS:C2931548 semapv:UnspecifiedMatching +Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss oboInOwl:hasDbXref UMLS:C4510409 semapv:UnspecifiedMatching +Orphanet:135 CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:135 CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching +Orphanet:135 CACH syndrome oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching +Orphanet:135 CACH syndrome oboInOwl:hasDbXref UMLS:C1858991 semapv:UnspecifiedMatching +Orphanet:135 CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref MESH:C536784 semapv:UnspecifiedMatching +Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref UMLS:C2931323 semapv:UnspecifiedMatching +Orphanet:1350 Heart-hand syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref OMIM:600123 semapv:UnspecifiedMatching +Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome oboInOwl:hasDbXref UMLS:C4706259 semapv:UnspecifiedMatching +Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref MESH:C535850 semapv:UnspecifiedMatching +Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref OMIM:212135 semapv:UnspecifiedMatching +Orphanet:1354 Heart defects-limb shortening syndrome oboInOwl:hasDbXref UMLS:C1859327 semapv:UnspecifiedMatching +Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref MESH:C536680 semapv:UnspecifiedMatching +Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref OMIM:270460 semapv:UnspecifiedMatching +Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome oboInOwl:hasDbXref UMLS:C0796162 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref MESH:C536102 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref OMIM:254940 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref OMIM:619941 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref UMLS:C1850746 semapv:UnspecifiedMatching +Orphanet:1358 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref MESH:D056733 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref MedDRA:10076601 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref OMIM:160980 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref OMIM:605244 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref UMLS:C0406810 semapv:UnspecifiedMatching +Orphanet:1359 Carney complex oboInOwl:hasDbXref icd11:5A70.Y semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MedDRA:10065551 semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:125310 semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C0751587 semapv:UnspecifiedMatching +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref icd11:8B22.C0 semapv:UnspecifiedMatching +Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref OMIM:212200 semapv:UnspecifiedMatching +Orphanet:1361 Carnosinase deficiency oboInOwl:hasDbXref icd11:5C50.F1 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref MESH:C535336 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref OMIM:212360 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref UMLS:C1859316 semapv:UnspecifiedMatching +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref MESH:C538283 semapv:UnspecifiedMatching +Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:212710 semapv:UnspecifiedMatching +Orphanet:1368 Cataract-ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C0796123 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref MESH:C538280 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:212350 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref OMIM:615418 semapv:UnspecifiedMatching +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome oboInOwl:hasDbXref UMLS:C1859317 semapv:UnspecifiedMatching +Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref MESH:D018981 semapv:UnspecifiedMatching +Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref MedDRA:10075892 semapv:UnspecifiedMatching +Orphanet:137 Congenital disorder of glycosylation oboInOwl:hasDbXref UMLS:C0282577 semapv:UnspecifiedMatching +Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref OMIM:115645 semapv:UnspecifiedMatching +Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome oboInOwl:hasDbXref UMLS:C4274900 semapv:UnspecifiedMatching +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537959 semapv:UnspecifiedMatching +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:211770 semapv:UnspecifiedMatching +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796282 semapv:UnspecifiedMatching +Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref ICD10:P91.6 semapv:UnspecifiedMatching +Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref ICD10:P91.6 semapv:UnspecifiedMatching +Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref UMLS:C5575064 semapv:UnspecifiedMatching +Orphanet:137577 Neonatal hypoxic and ischemic brain injury oboInOwl:hasDbXref icd11:KB04 semapv:UnspecifiedMatching +Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref ICD10:D07.1 semapv:UnspecifiedMatching +Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref ICD10:D07.1 semapv:UnspecifiedMatching +Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref UMLS:C0346210 semapv:UnspecifiedMatching +Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref icd11:2E67.12 semapv:UnspecifiedMatching +Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref icd11:2E67.13 semapv:UnspecifiedMatching +Orphanet:137583 Vulvar intraepithelial neoplasia oboInOwl:hasDbXref icd11:GA13.1 semapv:UnspecifiedMatching +Orphanet:137593 Infectious epithelial keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:137593 Infectious epithelial keratitis oboInOwl:hasDbXref UMLS:C4749790 semapv:UnspecifiedMatching +Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref MedDRA:10069732 semapv:UnspecifiedMatching +Orphanet:137596 Neurotrophic keratopathy oboInOwl:hasDbXref UMLS:C0339296 semapv:UnspecifiedMatching +Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching +Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching +Orphanet:137599 Herpes simplex virus stromal keratitis oboInOwl:hasDbXref UMLS:C5680626 semapv:UnspecifiedMatching +Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref MedDRA:10062621 semapv:UnspecifiedMatching +Orphanet:137602 Corneal endotheliitis oboInOwl:hasDbXref UMLS:C0423262 semapv:UnspecifiedMatching +Orphanet:137605 Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:137605 Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:137605 Legius syndrome oboInOwl:hasDbXref MESH:C548032 semapv:UnspecifiedMatching +Orphanet:137605 Legius syndrome oboInOwl:hasDbXref OMIM:611431 semapv:UnspecifiedMatching +Orphanet:137605 Legius syndrome oboInOwl:hasDbXref UMLS:C1969623 semapv:UnspecifiedMatching +Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome oboInOwl:hasDbXref UMLS:C4706610 semapv:UnspecifiedMatching +Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref MedDRA:10067467 semapv:UnspecifiedMatching +Orphanet:137617 Nephrogenic systemic fibrosis oboInOwl:hasDbXref UMLS:C3888044 semapv:UnspecifiedMatching +Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref UMLS:C4304307 semapv:UnspecifiedMatching +Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref OMIM:611556 semapv:UnspecifiedMatching +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C4510752 semapv:UnspecifiedMatching +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:137628 Cardiac anomalies-heterotaxy syndrome oboInOwl:hasDbXref UMLS:C4303970 semapv:UnspecifiedMatching +Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref OMIM:611926 semapv:UnspecifiedMatching +Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C4302919 semapv:UnspecifiedMatching +Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4302813 semapv:UnspecifiedMatching +Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching +Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome oboInOwl:hasDbXref UMLS:C4706676 semapv:UnspecifiedMatching +Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref OMIM:615236 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref MESH:C564254 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref UMLS:C1842180 semapv:UnspecifiedMatching +Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching +Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref UMLS:C0339288 semapv:UnspecifiedMatching +Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref icd11:9A78.4 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref MESH:C535584 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:212080 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:500000 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref UMLS:C1708371 semapv:UnspecifiedMatching +Orphanet:137675 Histiocytoid cardiomyopathy oboInOwl:hasDbXref icd11:BC43.00 semapv:UnspecifiedMatching +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref MESH:C535766 semapv:UnspecifiedMatching +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref OMIM:609162 semapv:UnspecifiedMatching +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref UMLS:C1836683 semapv:UnspecifiedMatching +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref OMIM:609060 semapv:UnspecifiedMatching +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 oboInOwl:hasDbXref UMLS:C4707239 semapv:UnspecifiedMatching +Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref ICD10:N85.6 semapv:UnspecifiedMatching +Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref MedDRA:10053868 semapv:UnspecifiedMatching +Orphanet:137686 Asherman syndrome oboInOwl:hasDbXref UMLS:C0156372 semapv:UnspecifiedMatching +Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching +Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref MESH:C538287 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching +Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref UMLS:C1861829 semapv:UnspecifiedMatching +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref MESH:C538246 semapv:UnspecifiedMatching +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref OMIM:609924 semapv:UnspecifiedMatching +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref UMLS:C1835922 semapv:UnspecifiedMatching +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref MESH:C564369 semapv:UnspecifiedMatching +Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref OMIM:607598 semapv:UnspecifiedMatching +Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref UMLS:C1843478 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref MESH:C566961 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref OMIM:611369 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref OMIM:614915 semapv:UnspecifiedMatching +Orphanet:137783 Lethal congenital contracture syndrome type 3 oboInOwl:hasDbXref UMLS:C1969655 semapv:UnspecifiedMatching +Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref MESH:C562642 semapv:UnspecifiedMatching +Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10011659 semapv:UnspecifiedMatching +Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C0268397 semapv:UnspecifiedMatching +Orphanet:137807 Primary cutaneous amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref MedDRA:10056953 semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C4274331 semapv:UnspecifiedMatching +Orphanet:137810 Nodular cutaneous amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref UMLS:C0544839 semapv:UnspecifiedMatching +Orphanet:137814 Macular amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref MESH:D001100 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref MedDRA:10003074 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref OMIM:182950 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref UMLS:C0003708 semapv:UnspecifiedMatching +Orphanet:137817 Arachnoiditis oboInOwl:hasDbXref icd11:8E40.3 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.0 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.1 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.2 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.2 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.3 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.3 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.4 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.4 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.5 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.5 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.6 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.6 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.8 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.8 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.9 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref ICD10:N80.9 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref UMLS:C0404545 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.C semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.CY semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.D semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.D0 semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.DY semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.E semapv:UnspecifiedMatching +Orphanet:137820 Extrapelvic endometriosis oboInOwl:hasDbXref icd11:GA10.F semapv:UnspecifiedMatching +Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref OMIM:300486 semapv:UnspecifiedMatching +Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref UMLS:C4304937 semapv:UnspecifiedMatching +Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref MESH:C537274 semapv:UnspecifiedMatching +Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching +Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS:C1855305 semapv:UnspecifiedMatching +Orphanet:137834 Frank-Ter Haar syndrome oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching +Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref ICD10:J03.8 semapv:UnspecifiedMatching +Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MESH:D057831 semapv:UnspecifiedMatching +Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MedDRA:10065552 semapv:UnspecifiedMatching +Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref UMLS:C0343525 semapv:UnspecifiedMatching +Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref OMIM:601346 semapv:UnspecifiedMatching +Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref UMLS:C1832443 semapv:UnspecifiedMatching +Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref UMLS:C0393551 semapv:UnspecifiedMatching +Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref icd11:8B60.7 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref MESH:C538270 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:602483 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:612798 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:614669 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref OMIM:615706 semapv:UnspecifiedMatching +Orphanet:137888 Auriculocondylar syndrome oboInOwl:hasDbXref UMLS:C1865295 semapv:UnspecifiedMatching +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref MESH:C562903 semapv:UnspecifiedMatching +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref OMIM:243060 semapv:UnspecifiedMatching +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref UMLS:C0403812 semapv:UnspecifiedMatching +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa oboInOwl:hasDbXref icd11:MF7Y semapv:UnspecifiedMatching +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref MESH:C567009 semapv:UnspecifiedMatching +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref OMIM:611105 semapv:UnspecifiedMatching +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome oboInOwl:hasDbXref UMLS:C1970180 semapv:UnspecifiedMatching +Orphanet:137905 Syndromic optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C5680629 semapv:UnspecifiedMatching +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref MESH:C567126 semapv:UnspecifiedMatching +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref OMIM:611719 semapv:UnspecifiedMatching +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref UMLS:C2673642 semapv:UnspecifiedMatching +Orphanet:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref MESH:D002754 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref MedDRA:10008587 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref OMIM:608911 semapv:UnspecifiedMatching +Orphanet:137914 Choanal atresia oboInOwl:hasDbXref UMLS:C0008297 semapv:UnspecifiedMatching +Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref UMLS:C5680630 semapv:UnspecifiedMatching +Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref UMLS:C4706521 semapv:UnspecifiedMatching +Orphanet:137929 Neonatal brainstem dysfunction oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:137929 Neonatal brainstem dysfunction oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:137929 Neonatal brainstem dysfunction oboInOwl:hasDbXref UMLS:C4749374 semapv:UnspecifiedMatching +Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref MedDRA:10087175 semapv:UnspecifiedMatching +Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref UMLS:C0396058 semapv:UnspecifiedMatching +Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref UMLS:C3839574 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref MESH:D058747 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref MedDRA:10064063 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref OMIM:214800 semapv:UnspecifiedMatching +Orphanet:138 CHARGE syndrome oboInOwl:hasDbXref UMLS:C0265354 semapv:UnspecifiedMatching +Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref MESH:C536216 semapv:UnspecifiedMatching +Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref OMIM:218900 semapv:UnspecifiedMatching +Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome oboInOwl:hasDbXref UMLS:C0795914 semapv:UnspecifiedMatching +Orphanet:138041 Pierre Robin syndrome associated with collagen disease oboInOwl:hasDbXref UMLS:C5679599 semapv:UnspecifiedMatching +Orphanet:138044 Rare disease with Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C5680627 semapv:UnspecifiedMatching +Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly oboInOwl:hasDbXref UMLS:C5679600 semapv:UnspecifiedMatching +Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies oboInOwl:hasDbXref UMLS:C5679602 semapv:UnspecifiedMatching +Orphanet:138055 Pierre Robin syndrome associated with bone disease oboInOwl:hasDbXref UMLS:C5679601 semapv:UnspecifiedMatching +Orphanet:138059 Teratogenic Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C5679603 semapv:UnspecifiedMatching +Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome oboInOwl:hasDbXref MESH:C537009 semapv:UnspecifiedMatching +Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome oboInOwl:hasDbXref UMLS:C2931391 semapv:UnspecifiedMatching +Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref MESH:C536626 semapv:UnspecifiedMatching +Orphanet:1383 Cataract-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931269 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref MESH:C536028 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref OMIM:212720 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref OMIM:619420 semapv:UnspecifiedMatching +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796037 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref MESH:C535347 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref MedDRA:10083949 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref OMIM:616145 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref UMLS:C1844887 semapv:UnspecifiedMatching +Orphanet:1388 Catel-Manzke syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref OMIM:218010 semapv:UnspecifiedMatching +Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome oboInOwl:hasDbXref UMLS:C4517339 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref MESH:C562515 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref MedDRA:10081963 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 semapv:UnspecifiedMatching +Orphanet:139 CHILD syndrome oboInOwl:hasDbXref UMLS:C0265267 semapv:UnspecifiedMatching +Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5679607 semapv:UnspecifiedMatching +Orphanet:139009 Developmental anomaly of metabolic origin oboInOwl:hasDbXref UMLS:C5680623 semapv:UnspecifiedMatching +Orphanet:139012 Rare bone development disorder oboInOwl:hasDbXref UMLS:C5679598 semapv:UnspecifiedMatching +Orphanet:139021 Malformation syndrome with short stature oboInOwl:hasDbXref UMLS:C5680618 semapv:UnspecifiedMatching +Orphanet:139024 Overgrowth/obesity syndrome oboInOwl:hasDbXref UMLS:C5680619 semapv:UnspecifiedMatching +Orphanet:139027 Rare developmental defect with skin/mucosae involvement oboInOwl:hasDbXref UMLS:C5680621 semapv:UnspecifiedMatching +Orphanet:139030 Rare developmental defect with connective tissue involvement oboInOwl:hasDbXref UMLS:C5680622 semapv:UnspecifiedMatching +Orphanet:139036 Branchial arch or oral-acral syndrome oboInOwl:hasDbXref UMLS:C5680620 semapv:UnspecifiedMatching +Orphanet:139039 Orofacial clefting syndrome oboInOwl:hasDbXref UMLS:C5680616 semapv:UnspecifiedMatching +Orphanet:139042 Malformation syndrome with odontal and/or periodontal component oboInOwl:hasDbXref UMLS:C5680617 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref MESH:C562538 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref MedDRA:10088264 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref OMIM:117650 semapv:UnspecifiedMatching +Orphanet:1393 Cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS:C0265342 semapv:UnspecifiedMatching +Orphanet:139393 Syndromic craniosynostosis oboInOwl:hasDbXref UMLS:C5680624 semapv:UnspecifiedMatching +Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching +Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching +Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref UMLS:C1527231 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref MESH:C565862 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref OMIM:616994 semapv:UnspecifiedMatching +Orphanet:1394 Cerebrofaciothoracic dysplasia oboInOwl:hasDbXref UMLS:C1859252 semapv:UnspecifiedMatching +Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref ICD10:T78.4 semapv:UnspecifiedMatching +Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref ICD10:T78.4 semapv:UnspecifiedMatching +Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref MedDRA:10073508 semapv:UnspecifiedMatching +Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms oboInOwl:hasDbXref UMLS:C3541994 semapv:UnspecifiedMatching +Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching +Orphanet:139406 Encephalopathy due to prosaposin deficiency oboInOwl:hasDbXref UMLS:C4303785 semapv:UnspecifiedMatching +Orphanet:139411 Carney triad oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:139411 Carney triad oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:139411 Carney triad oboInOwl:hasDbXref MESH:C565803 semapv:UnspecifiedMatching +Orphanet:139411 Carney triad oboInOwl:hasDbXref OMIM:604287 semapv:UnspecifiedMatching +Orphanet:139411 Carney triad oboInOwl:hasDbXref UMLS:C1858592 semapv:UnspecifiedMatching +Orphanet:139411 Carney triad oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:139414 Congenital panfollicular nevus oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching +Orphanet:139414 Congenital panfollicular nevus oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching +Orphanet:139414 Congenital panfollicular nevus oboInOwl:hasDbXref UMLS:C4476799 semapv:UnspecifiedMatching +Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:139417 Acute transverse myelitis oboInOwl:hasDbXref UMLS:C0270627 semapv:UnspecifiedMatching +Orphanet:139423 Idiopathic acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:139423 Idiopathic acute transverse myelitis oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref UMLS:C4707846 semapv:UnspecifiedMatching +Orphanet:139426 Perioral myoclonia with absences oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref MedDRA:10084303 semapv:UnspecifiedMatching +Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref UMLS:C4274731 semapv:UnspecifiedMatching +Orphanet:139431 Epilepsy with eyelid myoclonia oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref MedDRA:10070595 semapv:UnspecifiedMatching +Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS:C0311284 semapv:UnspecifiedMatching +Orphanet:139436 Multicentric reticulohistiocytosis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:612438 semapv:UnspecifiedMatching +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref OMIM:617899 semapv:UnspecifiedMatching +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref UMLS:C4304744 semapv:UnspecifiedMatching +Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref UMLS:C4304840 semapv:UnspecifiedMatching +Orphanet:139447 Progressive cavitating leukoencephalopathy oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref OMIM:611863 semapv:UnspecifiedMatching +Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome oboInOwl:hasDbXref UMLS:C4518464 semapv:UnspecifiedMatching +Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref OMIM:611809 semapv:UnspecifiedMatching +Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref UMLS:C3888198 semapv:UnspecifiedMatching +Orphanet:139455 Autosomal recessive bestrophinopathy oboInOwl:hasDbXref icd11:9B71.Y semapv:UnspecifiedMatching +Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref MESH:C567517 semapv:UnspecifiedMatching +Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref OMIM:611812 semapv:UnspecifiedMatching +Orphanet:139466 SERKAL syndrome oboInOwl:hasDbXref UMLS:C2678492 semapv:UnspecifiedMatching +Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref MESH:C566440 semapv:UnspecifiedMatching +Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref OMIM:607932 semapv:UnspecifiedMatching +Orphanet:139471 Microphthalmia with brain and digit anomalies oboInOwl:hasDbXref UMLS:C1864689 semapv:UnspecifiedMatching +Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:618874 semapv:UnspecifiedMatching +Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C3495679 semapv:UnspecifiedMatching +Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref MESH:C567433 semapv:UnspecifiedMatching +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref OMIM:612020 semapv:UnspecifiedMatching +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref UMLS:C2677586 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref MESH:C567436 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:612016 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:619028 semapv:UnspecifiedMatching +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref UMLS:C2677589 semapv:UnspecifiedMatching +Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref MESH:C537904 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref OMIM:601195 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref UMLS:C0268063 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref UMLS:C4509933 semapv:UnspecifiedMatching +Orphanet:139512 Neuropathy with hearing impairment oboInOwl:hasDbXref icd11:LD2H.1 semapv:UnspecifiedMatching +Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref MESH:C566984 semapv:UnspecifiedMatching +Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref OMIM:611228 semapv:UnspecifiedMatching +Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref UMLS:C1970011 semapv:UnspecifiedMatching +Orphanet:139515 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref MESH:C566675 semapv:UnspecifiedMatching +Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref OMIM:182960 semapv:UnspecifiedMatching +Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref UMLS:C1866784 semapv:UnspecifiedMatching +Orphanet:139518 Distal hereditary motor neuropathy type 1 oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:158590 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:608634 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:613376 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref OMIM:615575 semapv:UnspecifiedMatching +Orphanet:139525 Distal hereditary motor neuropathy type 2 oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref MESH:C563443 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:600794 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:614751 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref OMIM:619112 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref UMLS:C1833308 semapv:UnspecifiedMatching +Orphanet:139536 Distal hereditary motor neuropathy type 5 oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref MESH:C564626 semapv:UnspecifiedMatching +Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:607088 semapv:UnspecifiedMatching +Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1846823 semapv:UnspecifiedMatching +Orphanet:139547 Distal spinal muscular atrophy type 3 oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref MESH:C535715 semapv:UnspecifiedMatching +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref UMLS:C1854023 semapv:UnspecifiedMatching +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref MESH:C564506 semapv:UnspecifiedMatching +Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:300489 semapv:UnspecifiedMatching +Orphanet:139557 X-linked distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C1845359 semapv:UnspecifiedMatching +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref MESH:C564296 semapv:UnspecifiedMatching +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref OMIM:608088 semapv:UnspecifiedMatching +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref UMLS:C1842586 semapv:UnspecifiedMatching +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B oboInOwl:hasDbXref icd11:8C21.0 semapv:UnspecifiedMatching +Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay oboInOwl:hasDbXref UMLS:C4303566 semapv:UnspecifiedMatching +Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref OMIM:256840 semapv:UnspecifiedMatching +Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia oboInOwl:hasDbXref UMLS:C5679610 semapv:UnspecifiedMatching +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref OMIM:300614 semapv:UnspecifiedMatching +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness oboInOwl:hasDbXref UMLS:C4304400 semapv:UnspecifiedMatching +Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:158580 semapv:UnspecifiedMatching +Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref OMIM:607641 semapv:UnspecifiedMatching +Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref UMLS:C4749653 semapv:UnspecifiedMatching +Orphanet:139589 Distal hereditary motor neuropathy type 7 oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref OMIM:307010 semapv:UnspecifiedMatching +Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome oboInOwl:hasDbXref UMLS:C5680635 semapv:UnspecifiedMatching +Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref MedDRA:10008033 semapv:UnspecifiedMatching +Orphanet:1398 Isolated cerebellar agenesis oboInOwl:hasDbXref UMLS:C5679606 semapv:UnspecifiedMatching +Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref MESH:C535674 semapv:UnspecifiedMatching +Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref OMIM:245100 semapv:UnspecifiedMatching +Orphanet:1399 Richards-Rundle syndrome oboInOwl:hasDbXref UMLS:C0796136 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:605019 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:615558 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref UMLS:C0000744 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref MESH:D055036 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:114290 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:211990 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref OMIM:602196 semapv:UnspecifiedMatching +Orphanet:140 Campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861922 semapv:UnspecifiedMatching +Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref MESH:C538074 semapv:UnspecifiedMatching +Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref OMIM:214350 semapv:UnspecifiedMatching +Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref UMLS:C0406733 semapv:UnspecifiedMatching +Orphanet:1401 CHAND syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:140162 Inherited cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5680672 semapv:UnspecifiedMatching +Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion oboInOwl:hasDbXref UMLS:C4305428 semapv:UnspecifiedMatching +Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref MESH:C564648 semapv:UnspecifiedMatching +Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref OMIM:606893 semapv:UnspecifiedMatching +Orphanet:140436 Primary intraosseous venous malformation oboInOwl:hasDbXref UMLS:C1847197 semapv:UnspecifiedMatching +Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680673 semapv:UnspecifiedMatching +Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680676 semapv:UnspecifiedMatching +Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680677 semapv:UnspecifiedMatching +Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C5548212 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:607088 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:620011 semapv:UnspecifiedMatching +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C5548369 semapv:UnspecifiedMatching +Orphanet:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching +Orphanet:140471 Hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C0027889 semapv:UnspecifiedMatching +Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C5680674 semapv:UnspecifiedMatching +Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy oboInOwl:hasDbXref UMLS:C5680675 semapv:UnspecifiedMatching +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref MESH:C564269 semapv:UnspecifiedMatching +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref OMIM:608236 semapv:UnspecifiedMatching +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity oboInOwl:hasDbXref UMLS:C1842357 semapv:UnspecifiedMatching +Orphanet:1406 Charlie M syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1406 Charlie M syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1406 Charlie M syndrome oboInOwl:hasDbXref UMLS:C4518555 semapv:UnspecifiedMatching +Orphanet:1406 Charlie M syndrome oboInOwl:hasDbXref icd11:LD25.0Y semapv:UnspecifiedMatching +Orphanet:140653 Neuro-ophthalmological disease oboInOwl:hasDbXref UMLS:C5680678 semapv:UnspecifiedMatching +Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome oboInOwl:hasDbXref OMIM:234030 semapv:UnspecifiedMatching +Orphanet:1408 Hair defect-photosensitivity-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1856241 semapv:UnspecifiedMatching +Orphanet:140874 Joubert syndrome and related disorders oboInOwl:hasDbXref UMLS:C5679612 semapv:UnspecifiedMatching +Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref ICD10:U04.9 semapv:UnspecifiedMatching +Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MESH:D045169 semapv:UnspecifiedMatching +Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref MedDRA:10061982 semapv:UnspecifiedMatching +Orphanet:140896 Severe acute respiratory syndrome oboInOwl:hasDbXref UMLS:C1175175 semapv:UnspecifiedMatching +Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref MESH:C536746 semapv:UnspecifiedMatching +Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref OMIM:278200 semapv:UnspecifiedMatching +Orphanet:1409 Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome oboInOwl:hasDbXref UMLS:C0406718 semapv:UnspecifiedMatching +Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:E78.4 semapv:UnspecifiedMatching +Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:E78.4 semapv:UnspecifiedMatching +Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614025 semapv:UnspecifiedMatching +Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency oboInOwl:hasDbXref UMLS:C3151466 semapv:UnspecifiedMatching +Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching +Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref UMLS:C1969652 semapv:UnspecifiedMatching +Orphanet:140908 Brachydactyly type B2 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref OMIM:184460 semapv:UnspecifiedMatching +Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref UMLS:C1866656 semapv:UnspecifiedMatching +Orphanet:140917 Stapes ankylosis with broad thumbs and toes oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref MESH:C563854 semapv:UnspecifiedMatching +Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref OMIM:608807 semapv:UnspecifiedMatching +Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 oboInOwl:hasDbXref UMLS:C1837342 semapv:UnspecifiedMatching +Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:140927 Benign familial neonatal-infantile seizures oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching +Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:140933 Linear atrophoderma of Moulin oboInOwl:hasDbXref UMLS:C1274753 semapv:UnspecifiedMatching +Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref MESH:C564261 semapv:UnspecifiedMatching +Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref OMIM:608290 semapv:UnspecifiedMatching +Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref UMLS:C1842307 semapv:UnspecifiedMatching +Orphanet:140936 Lelis syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref OMIM:615961 semapv:UnspecifiedMatching +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency oboInOwl:hasDbXref UMLS:C4303612 semapv:UnspecifiedMatching +Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref MESH:C567863 semapv:UnspecifiedMatching +Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref OMIM:612918 semapv:UnspecifiedMatching +Orphanet:140944 CLOVES syndrome oboInOwl:hasDbXref UMLS:C2752042 semapv:UnspecifiedMatching +Orphanet:140949 Low-flow priapism oboInOwl:hasDbXref ICD10:N48.3 semapv:UnspecifiedMatching +Orphanet:140949 Low-flow priapism oboInOwl:hasDbXref UMLS:C2711256 semapv:UnspecifiedMatching +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref MESH:C567475 semapv:UnspecifiedMatching +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref OMIM:300707 semapv:UnspecifiedMatching +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS:C2678045 semapv:UnspecifiedMatching +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:187800 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:613112 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:615193 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:619271 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref OMIM:619840 semapv:UnspecifiedMatching +Orphanet:140957 Autosomal dominant macrothrombocytopenia oboInOwl:hasDbXref UMLS:C4304021 semapv:UnspecifiedMatching +Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref OMIM:612290 semapv:UnspecifiedMatching +Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome oboInOwl:hasDbXref UMLS:C4303551 semapv:UnspecifiedMatching +Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref OMIM:615598 semapv:UnspecifiedMatching +Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref UMLS:C3810072 semapv:UnspecifiedMatching +Orphanet:140966 Palmoplantar keratoderma, Nagashima type oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref MESH:C535463 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:266920 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching +Orphanet:140969 Saldino-Mainzer syndrome oboInOwl:hasDbXref UMLS:C1849437 semapv:UnspecifiedMatching +Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref MESH:C537612 semapv:UnspecifiedMatching +Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref OMIM:602152 semapv:UnspecifiedMatching +Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref UMLS:C1865794 semapv:UnspecifiedMatching +Orphanet:140976 RHYNS syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching +Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref MESH:C535276 semapv:UnspecifiedMatching +Orphanet:140989 Primary angiitis of the central nervous system oboInOwl:hasDbXref UMLS:C2930862 semapv:UnspecifiedMatching +Orphanet:140997 Orofaciodigital syndrome oboInOwl:hasDbXref MESH:D009958 semapv:UnspecifiedMatching +Orphanet:140997 Orofaciodigital syndrome oboInOwl:hasDbXref UMLS:C0029294 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref MedDRA:10067608 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref UMLS:C0206307 semapv:UnspecifiedMatching +Orphanet:141 Canavan disease oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref MESH:C536939 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:191480 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:617251 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref OMIM:617252 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref UMLS:C0432347 semapv:UnspecifiedMatching +Orphanet:1410 Uncombable hair syndrome oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching +Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref MESH:C557821 semapv:UnspecifiedMatching +Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref OMIM:612913 semapv:UnspecifiedMatching +Orphanet:141000 Orofaciodigital syndrome type 11 oboInOwl:hasDbXref UMLS:C2752048 semapv:UnspecifiedMatching +Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref MESH:C557818 semapv:UnspecifiedMatching +Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref OMIM:258865 semapv:UnspecifiedMatching +Orphanet:141007 Orofaciodigital syndrome type 9 oboInOwl:hasDbXref UMLS:C0796102 semapv:UnspecifiedMatching +Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141013 First branchial cleft anomaly oboInOwl:hasDbXref UMLS:C3874320 semapv:UnspecifiedMatching +Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref OMIM:113600 semapv:UnspecifiedMatching +Orphanet:141022 Second branchial cleft anomaly oboInOwl:hasDbXref UMLS:C3874315 semapv:UnspecifiedMatching +Orphanet:141030 Third branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141030 Third branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141030 Third branchial cleft anomaly oboInOwl:hasDbXref UMLS:C3874314 semapv:UnspecifiedMatching +Orphanet:141037 Fourth branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141037 Fourth branchial cleft anomaly oboInOwl:hasDbXref ICD10:Q18.0 semapv:UnspecifiedMatching +Orphanet:141037 Fourth branchial cleft anomaly oboInOwl:hasDbXref UMLS:C3873490 semapv:UnspecifiedMatching +Orphanet:141046 Cervical dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141046 Cervical dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141046 Cervical dermoid cyst oboInOwl:hasDbXref UMLS:C4706299 semapv:UnspecifiedMatching +Orphanet:141051 Facial dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141051 Facial dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141051 Facial dermoid cyst oboInOwl:hasDbXref UMLS:C4706321 semapv:UnspecifiedMatching +Orphanet:141061 Commissural lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching +Orphanet:141061 Commissural lip fistula oboInOwl:hasDbXref UMLS:C5680634 semapv:UnspecifiedMatching +Orphanet:141064 Lower lip fistula oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching +Orphanet:141064 Lower lip fistula oboInOwl:hasDbXref UMLS:C1274792 semapv:UnspecifiedMatching +Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141067 Cervicofacial fibrochondroma oboInOwl:hasDbXref UMLS:C5231314 semapv:UnspecifiedMatching +Orphanet:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:141071 Digestive duplication cyst of the tongue oboInOwl:hasDbXref UMLS:C4512051 semapv:UnspecifiedMatching +Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching +Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref OMIM:108760 semapv:UnspecifiedMatching +Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref OMIM:607842 semapv:UnspecifiedMatching +Orphanet:141074 External auditory canal aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C0266597 semapv:UnspecifiedMatching +Orphanet:141077 Epignathus oboInOwl:hasDbXref ICD10:D37.0 semapv:UnspecifiedMatching +Orphanet:141077 Epignathus oboInOwl:hasDbXref ICD10:D37.0 semapv:UnspecifiedMatching +Orphanet:141077 Epignathus oboInOwl:hasDbXref UMLS:C0266725 semapv:UnspecifiedMatching +Orphanet:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref ICD10:H04.6 semapv:UnspecifiedMatching +Orphanet:141083 Nasolacrimal duct cyst oboInOwl:hasDbXref UMLS:C5575612 semapv:UnspecifiedMatching +Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref UMLS:C4274730 semapv:UnspecifiedMatching +Orphanet:141091 Polyrrhinia oboInOwl:hasDbXref icd11:LA70 semapv:UnspecifiedMatching +Orphanet:141096 Supernumerary nostril oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141096 Supernumerary nostril oboInOwl:hasDbXref UMLS:C4021372 semapv:UnspecifiedMatching +Orphanet:141099 Proboscis lateralis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141099 Proboscis lateralis oboInOwl:hasDbXref UMLS:C4274985 semapv:UnspecifiedMatching +Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref OMIM:600679 semapv:UnspecifiedMatching +Orphanet:141103 Nasal dermoid cyst oboInOwl:hasDbXref UMLS:C5679605 semapv:UnspecifiedMatching +Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching +Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching +Orphanet:141107 Nasopharyngeal teratoma oboInOwl:hasDbXref UMLS:C4531264 semapv:UnspecifiedMatching +Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref UMLS:C0266490 semapv:UnspecifiedMatching +Orphanet:141115 Nasal ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref UMLS:C0014066 semapv:UnspecifiedMatching +Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref ICD10:Q31.1 semapv:UnspecifiedMatching +Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref ICD10:Q31.1 semapv:UnspecifiedMatching +Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref MedDRA:10087149 semapv:UnspecifiedMatching +Orphanet:141121 Congenital subglottic stenosis oboInOwl:hasDbXref UMLS:C0396051 semapv:UnspecifiedMatching +Orphanet:141124 Congenital laryngeal cyst oboInOwl:hasDbXref ICD10:Q31.8 semapv:UnspecifiedMatching +Orphanet:141124 Congenital laryngeal cyst oboInOwl:hasDbXref UMLS:C1393619 semapv:UnspecifiedMatching +Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref MESH:C000715347 semapv:UnspecifiedMatching +Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref OMIM:603569 semapv:UnspecifiedMatching +Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref UMLS:C0265767 semapv:UnspecifiedMatching +Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref MedDRA:10051934 semapv:UnspecifiedMatching +Orphanet:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching +Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref OMIM:133900 semapv:UnspecifiedMatching +Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref UMLS:C1399354 semapv:UnspecifiedMatching +Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching +Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref MESH:C535862 semapv:UnspecifiedMatching +Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref OMIM:606773 semapv:UnspecifiedMatching +Orphanet:141148 Hemifacial myohyperplasia oboInOwl:hasDbXref UMLS:C1847521 semapv:UnspecifiedMatching +Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref OMIM:612776 semapv:UnspecifiedMatching +Orphanet:141152 Isolated congenital hypoglossia/aglossia oboInOwl:hasDbXref UMLS:C5680636 semapv:UnspecifiedMatching +Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref UMLS:C4303569 semapv:UnspecifiedMatching +Orphanet:141163 Glossopalatine ankylosis oboInOwl:hasDbXref icd11:LD25.0Y semapv:UnspecifiedMatching +Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:141168 Frontonasal arteriovenous malformation oboInOwl:hasDbXref UMLS:C3838993 semapv:UnspecifiedMatching +Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:141171 Maxillary arteriovenous malformation oboInOwl:hasDbXref UMLS:C3839810 semapv:UnspecifiedMatching +Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:141174 Mandibular arteriovenous malformation oboInOwl:hasDbXref UMLS:C3839452 semapv:UnspecifiedMatching +Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275417 semapv:UnspecifiedMatching +Orphanet:141179 Non-involuting congenital hemangioma oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching +Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C1275421 semapv:UnspecifiedMatching +Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching +Orphanet:141184 Rapidly involuting congenital hemangioma oboInOwl:hasDbXref icd11:XH6RC4 semapv:UnspecifiedMatching +Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome oboInOwl:hasDbXref UMLS:C3839265 semapv:UnspecifiedMatching +Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 oboInOwl:hasDbXref UMLS:C3840102 semapv:UnspecifiedMatching +Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref UMLS:C3838691 semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186570 semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref UMLS:C1861305 semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref icd11:LD26.3 semapv:UnspecifiedMatching +Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref UMLS:C3839921 semapv:UnspecifiedMatching +Orphanet:141209 Diffuse lymphatic malformation oboInOwl:hasDbXref icd11:2E81.10 semapv:UnspecifiedMatching +Orphanet:141214 Isolated congenital syngnathia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching +Orphanet:141214 Isolated congenital syngnathia oboInOwl:hasDbXref UMLS:C4706392 semapv:UnspecifiedMatching +Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref UMLS:C0339853 semapv:UnspecifiedMatching +Orphanet:141229 Facial cleft oboInOwl:hasDbXref UMLS:C0685787 semapv:UnspecifiedMatching +Orphanet:141229 Facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref UMLS:C3697381 semapv:UnspecifiedMatching +Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141242 Paramedian nasal cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141242 Paramedian nasal cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141242 Paramedian nasal cleft oboInOwl:hasDbXref OMIM:614687 semapv:UnspecifiedMatching +Orphanet:141242 Paramedian nasal cleft oboInOwl:hasDbXref UMLS:C4759655 semapv:UnspecifiedMatching +Orphanet:141242 Paramedian nasal cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141253 Oblique facial cleft oboInOwl:hasDbXref UMLS:C5679604 semapv:UnspecifiedMatching +Orphanet:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref OMIM:600251 semapv:UnspecifiedMatching +Orphanet:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref UMLS:C4703420 semapv:UnspecifiedMatching +Orphanet:141258 Tessier number 4 facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141261 Tessier number 5 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141261 Tessier number 5 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141261 Tessier number 5 facial cleft oboInOwl:hasDbXref UMLS:C0432119 semapv:UnspecifiedMatching +Orphanet:141261 Tessier number 5 facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141265 Tessier number 6 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141265 Tessier number 6 facial cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141265 Tessier number 6 facial cleft oboInOwl:hasDbXref UMLS:C0432120 semapv:UnspecifiedMatching +Orphanet:141265 Tessier number 6 facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref ICD10:Q18.4 semapv:UnspecifiedMatching +Orphanet:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref ICD10:Q18.4 semapv:UnspecifiedMatching +Orphanet:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref OMIM:613545 semapv:UnspecifiedMatching +Orphanet:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref UMLS:C4552111 semapv:UnspecifiedMatching +Orphanet:141276 Tessier number 7 facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref MESH:C000719407 semapv:UnspecifiedMatching +Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref UMLS:C4479645 semapv:UnspecifiedMatching +Orphanet:141288 Midline cervical cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching +Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref UMLS:C1298692 semapv:UnspecifiedMatching +Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref MESH:C548034 semapv:UnspecifiedMatching +Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref UMLS:C4706601 semapv:UnspecifiedMatching +Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref MESH:C548035 semapv:UnspecifiedMatching +Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref UMLS:C4706602 semapv:UnspecifiedMatching +Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref MESH:C565902 semapv:UnspecifiedMatching +Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref OMIM:210350 semapv:UnspecifiedMatching +Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref UMLS:C1859487 semapv:UnspecifiedMatching +Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref MESH:C535330 semapv:UnspecifiedMatching +Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching +Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C0268314 semapv:UnspecifiedMatching +Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref MESH:C535632 semapv:UnspecifiedMatching +Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref OMIM:301068 semapv:UnspecifiedMatching +Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref UMLS:C0795969 semapv:UnspecifiedMatching +Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref ICD10:M11.1 semapv:UnspecifiedMatching +Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref ICD10:M11.1 semapv:UnspecifiedMatching +Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:118600 semapv:UnspecifiedMatching +Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:600668 semapv:UnspecifiedMatching +Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref UMLS:C0553730 semapv:UnspecifiedMatching +Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref icd11:FA26.0 semapv:UnspecifiedMatching +Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MESH:D065646 semapv:UnspecifiedMatching +Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref MedDRA:10002240 semapv:UnspecifiedMatching +Orphanet:142 Anaplastic thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238461 semapv:UnspecifiedMatching +Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref MESH:C536123 semapv:UnspecifiedMatching +Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref OMIM:600092 semapv:UnspecifiedMatching +Orphanet:1422 Chondrodysplasia-difference of sex development syndrome oboInOwl:hasDbXref UMLS:C1838654 semapv:UnspecifiedMatching +Orphanet:1423 Lethal recessive chondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1423 Lethal recessive chondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1423 Lethal recessive chondrodysplasia oboInOwl:hasDbXref UMLS:C4304745 semapv:UnspecifiedMatching +Orphanet:1423 Lethal recessive chondrodysplasia oboInOwl:hasDbXref icd11:FB82.Y semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref MESH:C535943 semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref OMIM:251450 semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref OMIM:615777 semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref UMLS:C0432242 semapv:UnspecifiedMatching +Orphanet:1425 Desbuquois syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref MESH:C535858 semapv:UnspecifiedMatching +Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching +Orphanet:1426 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C2931048 semapv:UnspecifiedMatching +Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10084407 semapv:UnspecifiedMatching +Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref OMIM:215150 semapv:UnspecifiedMatching +Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref UMLS:C4520892 semapv:UnspecifiedMatching +Orphanet:1427 Otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:118700 semapv:UnspecifiedMatching +Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref OMIM:215450 semapv:UnspecifiedMatching +Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref UMLS:C0393584 semapv:UnspecifiedMatching +Orphanet:1429 Benign hereditary chorea oboInOwl:hasDbXref icd11:8A01.0 semapv:UnspecifiedMatching +Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref ICD10:C75.0 semapv:UnspecifiedMatching +Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref MESH:D010282 semapv:UnspecifiedMatching +Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 semapv:UnspecifiedMatching +Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0687150 semapv:UnspecifiedMatching +Orphanet:143 Parathyroid carcinoma oboInOwl:hasDbXref icd11:2D12.Y semapv:UnspecifiedMatching +Orphanet:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref MESH:D002819 semapv:UnspecifiedMatching +Orphanet:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref UMLS:C0752210 semapv:UnspecifiedMatching +Orphanet:1431 Paroxysmal dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching +Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:156590 semapv:UnspecifiedMatching +Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3501946 semapv:UnspecifiedMatching +Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref MESH:C535810 semapv:UnspecifiedMatching +Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref UMLS:C2931026 semapv:UnspecifiedMatching +Orphanet:1433 Choroidal atrophy-alopecia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref MESH:C537793 semapv:UnspecifiedMatching +Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref OMIM:303110 semapv:UnspecifiedMatching +Orphanet:1435 Xq21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1844836 semapv:UnspecifiedMatching +Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C564101 semapv:UnspecifiedMatching +Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:309620 semapv:UnspecifiedMatching +Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1839729 semapv:UnspecifiedMatching +Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref MESH:C535361 semapv:UnspecifiedMatching +Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref UMLS:C0265395 semapv:UnspecifiedMatching +Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref MESH:C538086 semapv:UnspecifiedMatching +Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref UMLS:C0265438 semapv:UnspecifiedMatching +Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref UMLS:C5201040 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MedDRA:10051981 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:120435 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:609310 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:613244 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614331 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614337 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614350 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref OMIM:614385 semapv:UnspecifiedMatching +Orphanet:144 Lynch syndrome oboInOwl:hasDbXref UMLS:C4552100 semapv:UnspecifiedMatching +Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref MESH:C535487 semapv:UnspecifiedMatching +Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref OMIM:616606 semapv:UnspecifiedMatching +Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref UMLS:C2930916 semapv:UnspecifiedMatching +Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref MESH:C538046 semapv:UnspecifiedMatching +Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref UMLS:C0795863 semapv:UnspecifiedMatching +Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref MESH:C538304 semapv:UnspecifiedMatching +Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref UMLS:C0265475 semapv:UnspecifiedMatching +Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref UMLS:C0795869 semapv:UnspecifiedMatching +Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref MESH:C580424 semapv:UnspecifiedMatching +Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref UMLS:C0265482 semapv:UnspecifiedMatching +Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref MESH:C537109 semapv:UnspecifiedMatching +Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref UMLS:C0265487 semapv:UnspecifiedMatching +Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref MESH:C536795 semapv:UnspecifiedMatching +Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref UMLS:C0265492 semapv:UnspecifiedMatching +Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref MESH:C537636 semapv:UnspecifiedMatching +Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref UMLS:C0265407 semapv:UnspecifiedMatching +Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref MESH:C537763 semapv:UnspecifiedMatching +Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref UMLS:C0795814 semapv:UnspecifiedMatching +Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref MESH:C537813 semapv:UnspecifiedMatching +Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref UMLS:C0795818 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50.9 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref MESH:D061325 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:604370 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:612555 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:613399 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref OMIM:614291 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C0677776 semapv:UnspecifiedMatching +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref icd11:2C65 semapv:UnspecifiedMatching +Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref MESH:C537824 semapv:UnspecifiedMatching +Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref UMLS:C4274902 semapv:UnspecifiedMatching +Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref MedDRA:10064568 semapv:UnspecifiedMatching +Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching +Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref UMLS:C0409818 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref MedDRA:10075994 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref OMIM:119600 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref OMIM:620099 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref UMLS:C0008928 semapv:UnspecifiedMatching +Orphanet:1452 Cleidocranial dysplasia oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref MESH:C536428 semapv:UnspecifiedMatching +Orphanet:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref OMIM:119650 semapv:UnspecifiedMatching +Orphanet:1453 Cleidorhizomelic syndrome oboInOwl:hasDbXref UMLS:C1861515 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref MESH:C536430 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:216360 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619111 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619113 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref UMLS:C1857662 semapv:UnspecifiedMatching +Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref UMLS:C2930803 semapv:UnspecifiedMatching +Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching +Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref UMLS:C3496579 semapv:UnspecifiedMatching +Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref MESH:D001017 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref MedDRA:10009807 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref OMIM:120000 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref UMLS:C0003492 semapv:UnspecifiedMatching +Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching +Orphanet:1458 CODAS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1458 CODAS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1458 CODAS syndrome oboInOwl:hasDbXref MESH:C536434 semapv:UnspecifiedMatching +Orphanet:1458 CODAS syndrome oboInOwl:hasDbXref OMIM:600373 semapv:UnspecifiedMatching +Orphanet:1458 CODAS syndrome oboInOwl:hasDbXref UMLS:C1838180 semapv:UnspecifiedMatching +Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref OMIM:226810 semapv:UnspecifiedMatching +Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome oboInOwl:hasDbXref UMLS:C4302597 semapv:UnspecifiedMatching +Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching +Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching +Orphanet:146 Differentiated thyroid carcinoma oboInOwl:hasDbXref UMLS:C1337013 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref MESH:C565128 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615157 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615158 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615159 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615160 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615453 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615824 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:615838 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:616111 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:618775 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref OMIM:620137 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref UMLS:C1852372 semapv:UnspecifiedMatching +Orphanet:1460 Isolated complex III deficiency oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref MESH:D003420 semapv:UnspecifiedMatching +Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref UMLS:C0010334 semapv:UnspecifiedMatching +Orphanet:1461 Criss-cross heart oboInOwl:hasDbXref icd11:LA81 semapv:UnspecifiedMatching +Orphanet:1463 Triatrial heart oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching +Orphanet:1463 Triatrial heart oboInOwl:hasDbXref MESH:D003310 semapv:UnspecifiedMatching +Orphanet:1463 Triatrial heart oboInOwl:hasDbXref MedDRA:10010972 semapv:UnspecifiedMatching +Orphanet:1463 Triatrial heart oboInOwl:hasDbXref UMLS:C0009995 semapv:UnspecifiedMatching +Orphanet:1464 Univentricular heart oboInOwl:hasDbXref ICD10:Q20.4 semapv:UnspecifiedMatching +Orphanet:1464 Univentricular heart oboInOwl:hasDbXref MedDRA:10045545 semapv:UnspecifiedMatching +Orphanet:1464 Univentricular heart oboInOwl:hasDbXref UMLS:C0152424 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:135900 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:614607 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:614608 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:614609 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:615866 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:616938 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:617808 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618027 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618362 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618506 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:618779 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref OMIM:619325 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS:C0265338 semapv:UnspecifiedMatching +Orphanet:1465 Coffin-Siris syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching +Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching +Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching +Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref MESH:D055952 semapv:UnspecifiedMatching +Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref MedDRA:10056667 semapv:UnspecifiedMatching +Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref UMLS:C0271270 semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref MESH:D020165 semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref MedDRA:10058297 semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref OMIM:237300 semapv:UnspecifiedMatching +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency oboInOwl:hasDbXref UMLS:C0751753 semapv:UnspecifiedMatching +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref MESH:C535969 semapv:UnspecifiedMatching +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref OMIM:120400 semapv:UnspecifiedMatching +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref UMLS:C1852752 semapv:UnspecifiedMatching +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref OMIM:120433 semapv:UnspecifiedMatching +Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS:C5680601 semapv:UnspecifiedMatching +Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1474 Colobomatous-microphthalmia-heart disease-hearing loss syndrome oboInOwl:hasDbXref UMLS:C2931818 semapv:UnspecifiedMatching +Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref MESH:C537168 semapv:UnspecifiedMatching +Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref OMIM:120330 semapv:UnspecifiedMatching +Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref UMLS:C1852759 semapv:UnspecifiedMatching +Orphanet:1475 Renal coloboma syndrome oboInOwl:hasDbXref icd11:LA13.7Y semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref MedDRA:10003664 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:108800 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:607941 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:612794 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:613087 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614433 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref OMIM:614475 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref UMLS:C0018817 semapv:UnspecifiedMatching +Orphanet:1478 Interatrial communication oboInOwl:hasDbXref icd11:LA8E.Y semapv:UnspecifiedMatching +Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref OMIM:108900 semapv:UnspecifiedMatching +Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome oboInOwl:hasDbXref UMLS:C4510872 semapv:UnspecifiedMatching +Orphanet:148 Multiple carboxylase deficiency oboInOwl:hasDbXref MESH:D009100 semapv:UnspecifiedMatching +Orphanet:148 Multiple carboxylase deficiency oboInOwl:hasDbXref MedDRA:10028176 semapv:UnspecifiedMatching +Orphanet:148 Multiple carboxylase deficiency oboInOwl:hasDbXref UMLS:C0026755 semapv:UnspecifiedMatching +Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:1480 NON RARE IN EUROPE: Ventricular septal defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:A54.3+ semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:H13.1* semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref ICD10:H13.1* semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref MESH:D009878 semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref UMLS:C0339166 semapv:UnspecifiedMatching +Orphanet:1482 Gonococcal conjunctivitis oboInOwl:hasDbXref icd11:1A72.4 semapv:UnspecifiedMatching +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C538135 semapv:UnspecifiedMatching +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:301815 semapv:UnspecifiedMatching +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C2931745 semapv:UnspecifiedMatching +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref MESH:C535883 semapv:UnspecifiedMatching +Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref OMIM:208158 semapv:UnspecifiedMatching +Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form oboInOwl:hasDbXref UMLS:C1859710 semapv:UnspecifiedMatching +Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref MESH:C537194 semapv:UnspecifiedMatching +Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref OMIM:253310 semapv:UnspecifiedMatching +Orphanet:1486 Lethal congenital contracture syndrome type 1 oboInOwl:hasDbXref UMLS:C1854664 semapv:UnspecifiedMatching +Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching +Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref MESH:C537766 semapv:UnspecifiedMatching +Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref OMIM:106995 semapv:UnspecifiedMatching +Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref UMLS:C1862841 semapv:UnspecifiedMatching +Orphanet:1487 Cooks syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref OMIM:209770 semapv:UnspecifiedMatching +Orphanet:1488 Cooper-Jabs syndrome oboInOwl:hasDbXref UMLS:C4303864 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.0 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.1 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.8 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.8 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.9 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref ICD10:A37.9 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref MESH:D014917 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref MedDRA:10047974 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref UMLS:C0043167 semapv:UnspecifiedMatching +Orphanet:1489 Whooping cough oboInOwl:hasDbXref icd11:1C12.Y semapv:UnspecifiedMatching +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MESH:C535473 semapv:UnspecifiedMatching +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref OMIM:217400 semapv:UnspecifiedMatching +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS:C1857572 semapv:UnspecifiedMatching +Orphanet:1493 Vici syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1493 Vici syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1493 Vici syndrome oboInOwl:hasDbXref MESH:C535566 semapv:UnspecifiedMatching +Orphanet:1493 Vici syndrome oboInOwl:hasDbXref OMIM:242840 semapv:UnspecifiedMatching +Orphanet:1493 Vici syndrome oboInOwl:hasDbXref UMLS:C1855772 semapv:UnspecifiedMatching +Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome oboInOwl:hasDbXref UMLS:C4302530 semapv:UnspecifiedMatching +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref MESH:C536446 semapv:UnspecifiedMatching +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref OMIM:218000 semapv:UnspecifiedMatching +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref UMLS:C0795950 semapv:UnspecifiedMatching +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching +Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref OMIM:304100 semapv:UnspecifiedMatching +Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref UMLS:C1839909 semapv:UnspecifiedMatching +Orphanet:1497 X-linked complicated corpus callosum dysgenesis oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref MedDRA:10000452 semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching +Orphanet:15 Achondroplasia oboInOwl:hasDbXref UMLS:C0001080 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.0 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.1 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.2 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref ICD10:C11.3 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MESH:D000077274 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref MedDRA:10028793 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:161550 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:607107 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref OMIM:617075 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref UMLS:C2931822 semapv:UnspecifiedMatching +Orphanet:150 Nasopharyngeal carcinoma oboInOwl:hasDbXref icd11:2E60.0 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref ICD10:C74.0 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref ICD10:C74.0 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MESH:D018268 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref MedDRA:10001388 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref OMIM:202300 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref UMLS:C0206686 semapv:UnspecifiedMatching +Orphanet:1501 Adrenocortical carcinoma oboInOwl:hasDbXref icd11:2D11.Z semapv:UnspecifiedMatching +Orphanet:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref MESH:D012779 semapv:UnspecifiedMatching +Orphanet:1505 Short rib-polydactyly syndrome oboInOwl:hasDbXref UMLS:C0036996 semapv:UnspecifiedMatching +Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref MESH:C537595 semapv:UnspecifiedMatching +Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C2931543 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref MESH:C535863 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:618529 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref UMLS:C1849334 semapv:UnspecifiedMatching +Orphanet:1507 Autosomal recessive Robinow syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref MESH:C565148 semapv:UnspecifiedMatching +Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref OMIM:122780 semapv:UnspecifiedMatching +Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref UMLS:C1852513 semapv:UnspecifiedMatching +Orphanet:1508 Coxoauricular syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref MESH:C535540 semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref MedDRA:10086423 semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 semapv:UnspecifiedMatching +Orphanet:1509 Coxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1840061 semapv:UnspecifiedMatching +Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref MESH:C536452 semapv:UnspecifiedMatching +Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref OMIM:218090 semapv:UnspecifiedMatching +Orphanet:1512 Crane-Heise syndrome oboInOwl:hasDbXref UMLS:C1857532 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C562940 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:122860 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:218300 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0410539 semapv:UnspecifiedMatching +Orphanet:1513 Craniodiaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537528 semapv:UnspecifiedMatching +Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref OMIM:312860 semapv:UnspecifiedMatching +Orphanet:1514 Craniodigital-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1839311 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:218330 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:613610 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:614099 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:614378 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref OMIM:617102 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref UMLS:C4551571 semapv:UnspecifiedMatching +Orphanet:1515 Cranioectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref MESH:C536455 semapv:UnspecifiedMatching +Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref OMIM:218350 semapv:UnspecifiedMatching +Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C1857511 semapv:UnspecifiedMatching +Orphanet:1517 Cantú syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1517 Cantú syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1517 Cantú syndrome oboInOwl:hasDbXref MESH:C535572 semapv:UnspecifiedMatching +Orphanet:1517 Cantú syndrome oboInOwl:hasDbXref OMIM:239850 semapv:UnspecifiedMatching +Orphanet:1517 Cantú syndrome oboInOwl:hasDbXref UMLS:C0795905 semapv:UnspecifiedMatching +Orphanet:1517 Cantú syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref OMIM:145420 semapv:UnspecifiedMatching +Orphanet:1519 SPECC1L-related hypertelorism syndrome oboInOwl:hasDbXref UMLS:C0796179 semapv:UnspecifiedMatching +Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching +Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching +Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref UMLS:C0220767 semapv:UnspecifiedMatching +Orphanet:1520 Craniofrontonasal dysplasia oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome oboInOwl:hasDbXref UMLS:C4303859 semapv:UnspecifiedMatching +Orphanet:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref OMIM:123000 semapv:UnspecifiedMatching +Orphanet:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref OMIM:218400 semapv:UnspecifiedMatching +Orphanet:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265292 semapv:UnspecifiedMatching +Orphanet:1522 Craniometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref MESH:C566522 semapv:UnspecifiedMatching +Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref OMIM:602558 semapv:UnspecifiedMatching +Orphanet:1524 Craniomicromelic syndrome oboInOwl:hasDbXref UMLS:C1865184 semapv:UnspecifiedMatching +Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching +Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching +Orphanet:1525 Cranio-osteoarthropathy oboInOwl:hasDbXref UMLS:C2678439 semapv:UnspecifiedMatching +Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref MESH:C563368 semapv:UnspecifiedMatching +Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching +Orphanet:1527 Craniosynostosis, Philadelphia type oboInOwl:hasDbXref UMLS:C1832590 semapv:UnspecifiedMatching +Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref MESH:C535597 semapv:UnspecifiedMatching +Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref OMIM:218670 semapv:UnspecifiedMatching +Orphanet:1528 Craniotelencephalic dysplasia oboInOwl:hasDbXref UMLS:C1857471 semapv:UnspecifiedMatching +Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching +Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref OMIM:122880 semapv:UnspecifiedMatching +Orphanet:1529 Craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS:C1852510 semapv:UnspecifiedMatching +Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref MESH:D003398 semapv:UnspecifiedMatching +Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref MedDRA:10049889 semapv:UnspecifiedMatching +Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref UMLS:C0010278 semapv:UnspecifiedMatching +Orphanet:1531 Craniosynostosis oboInOwl:hasDbXref icd11:LB70.0 semapv:UnspecifiedMatching +Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref MESH:C537285 semapv:UnspecifiedMatching +Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref OMIM:601853 semapv:UnspecifiedMatching +Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref UMLS:C0795959 semapv:UnspecifiedMatching +Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching +Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C4304196 semapv:UnspecifiedMatching +Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:600884 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601154 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601493 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:601494 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604145 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604288 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:604765 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605582 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:606685 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:607482 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:608569 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:609909 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:609915 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611407 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611615 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611878 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611879 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:611880 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:612158 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:612877 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613122 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613172 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613252 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613286 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613424 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613426 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613642 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613694 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613697 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:613881 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:614672 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615184 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615235 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615248 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615373 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615396 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:615916 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:618189 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619371 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619492 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619747 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:619897 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref OMIM:620203 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5679590 semapv:UnspecifiedMatching +Orphanet:154 Familial isolated dilated cardiomyopathy oboInOwl:hasDbXref icd11:BC43.00 semapv:UnspecifiedMatching +Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref MESH:C537559 semapv:UnspecifiedMatching +Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref OMIM:123150 semapv:UnspecifiedMatching +Orphanet:1540 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS:C0795998 semapv:UnspecifiedMatching +Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref MESH:C565753 semapv:UnspecifiedMatching +Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref OMIM:604757 semapv:UnspecifiedMatching +Orphanet:1541 Craniosynostosis, Boston type oboInOwl:hasDbXref UMLS:C1858160 semapv:UnspecifiedMatching +Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref UMLS:C4275141 semapv:UnspecifiedMatching +Orphanet:1544 Benign focal seizures of adolescence oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching +Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref MESH:C536214 semapv:UnspecifiedMatching +Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching +Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref UMLS:C1832409 semapv:UnspecifiedMatching +Orphanet:1545 Crisponi syndrome oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.0 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.1 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.2 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.3 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.7 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.7 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.8 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.8 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.9 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref ICD10:B45.9 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref MESH:D003453 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref MedDRA:10011490 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref UMLS:C0010414 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1D01.10 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.0 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.1 semapv:UnspecifiedMatching +Orphanet:1546 Cryptococcosis oboInOwl:hasDbXref icd11:1F27.2 semapv:UnspecifiedMatching +Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref MESH:C536219 semapv:UnspecifiedMatching +Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref OMIM:123560 semapv:UnspecifiedMatching +Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome oboInOwl:hasDbXref UMLS:C1852454 semapv:UnspecifiedMatching +Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4707233 semapv:UnspecifiedMatching +Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis oboInOwl:hasDbXref ICD10:A07.2 semapv:UnspecifiedMatching +Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis oboInOwl:hasDbXref ICD10:A07.2 semapv:UnspecifiedMatching +Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.1 semapv:UnspecifiedMatching +Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.1 semapv:UnspecifiedMatching +Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.2 semapv:UnspecifiedMatching +Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.2 semapv:UnspecifiedMatching +Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref MESH:C535468 semapv:UnspecifiedMatching +Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref OMIM:121270 semapv:UnspecifiedMatching +Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref UMLS:C1852576 semapv:UnspecifiedMatching +Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref icd11:5C64.0Y semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref MESH:C536221 semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref MedDRA:10079857 semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref OMIM:176450 semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref UMLS:C1531773 semapv:UnspecifiedMatching +Orphanet:1552 Currarino syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1553 Curry-Jones syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1553 Curry-Jones syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1553 Curry-Jones syndrome oboInOwl:hasDbXref OMIM:601707 semapv:UnspecifiedMatching +Orphanet:1553 Curry-Jones syndrome oboInOwl:hasDbXref UMLS:C0795915 semapv:UnspecifiedMatching +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref MESH:C565129 semapv:UnspecifiedMatching +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref OMIM:123790 semapv:UnspecifiedMatching +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1852406 semapv:UnspecifiedMatching +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref MESH:C536226 semapv:UnspecifiedMatching +Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref OMIM:219250 semapv:UnspecifiedMatching +Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref UMLS:C0345419 semapv:UnspecifiedMatching +Orphanet:1557 Cutis verticis gyrata-intellectual disability syndrome oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching +Orphanet:155832 Rare head and neck malformation oboInOwl:hasDbXref UMLS:C5680631 semapv:UnspecifiedMatching +Orphanet:155835 Cysts and fistulae of the face and oral cavity oboInOwl:hasDbXref UMLS:C5680632 semapv:UnspecifiedMatching +Orphanet:155838 Pinnae fistula or cyst oboInOwl:hasDbXref ICD10:Q18.1 semapv:UnspecifiedMatching +Orphanet:155838 Pinnae fistula or cyst oboInOwl:hasDbXref ICD10:Q18.1 semapv:UnspecifiedMatching +Orphanet:155838 Pinnae fistula or cyst oboInOwl:hasDbXref UMLS:C5680633 semapv:UnspecifiedMatching +Orphanet:155838 Pinnae fistula or cyst oboInOwl:hasDbXref icd11:LA21.Y semapv:UnspecifiedMatching +Orphanet:155867 Paramedian facial cleft oboInOwl:hasDbXref UMLS:C4703416 semapv:UnspecifiedMatching +Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref ICD10:Q35.9 semapv:UnspecifiedMatching +Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref ICD10:Q35.9 semapv:UnspecifiedMatching +Orphanet:155878 Submucosal cleft palate oboInOwl:hasDbXref UMLS:C4551487 semapv:UnspecifiedMatching +Orphanet:155884 Coloboma of superior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:155884 Coloboma of superior eyelid oboInOwl:hasDbXref UMLS:C1863872 semapv:UnspecifiedMatching +Orphanet:155889 Coloboma of inferior eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:155889 Coloboma of inferior eyelid oboInOwl:hasDbXref UMLS:C1837826 semapv:UnspecifiedMatching +Orphanet:155896 Otomandibular dysplasia oboInOwl:hasDbXref UMLS:C5680658 semapv:UnspecifiedMatching +Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MESH:D008342 semapv:UnspecifiedMatching +Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref MedDRA:10051456 semapv:UnspecifiedMatching +Orphanet:155899 Mandibulofacial dysostosis oboInOwl:hasDbXref UMLS:C0242387 semapv:UnspecifiedMatching +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref MESH:C535588 semapv:UnspecifiedMatching +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref OMIM:255120 semapv:UnspecifiedMatching +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency oboInOwl:hasDbXref UMLS:C1829703 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.0 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.1 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.8 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.8 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.9 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.9 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref MESH:D003551 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref MedDRA:10011775 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref UMLS:C0010678 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.0 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.00 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.1 semapv:UnspecifiedMatching +Orphanet:156005 Primary early-onset glaucoma oboInOwl:hasDbXref UMLS:C5680656 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:604377 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:615119 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616500 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:616501 semapv:UnspecifiedMatching +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C4273730 semapv:UnspecifiedMatching +Orphanet:156140 Predominantly large-vessel vasculitis oboInOwl:hasDbXref UMLS:C5680657 semapv:UnspecifiedMatching +Orphanet:156143 Predominantly medium-vessel vasculitis oboInOwl:hasDbXref UMLS:C5680654 semapv:UnspecifiedMatching +Orphanet:156146 Predominantly small-vessel vasculitis oboInOwl:hasDbXref UMLS:C5680653 semapv:UnspecifiedMatching +Orphanet:156149 Immune complex mediated vasculitis oboInOwl:hasDbXref UMLS:C5680655 semapv:UnspecifiedMatching +Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref MESH:D056648 semapv:UnspecifiedMatching +Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref UMLS:C2717865 semapv:UnspecifiedMatching +Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref icd11:4A44.A semapv:UnspecifiedMatching +Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:156159 Isolated dystonia oboInOwl:hasDbXref UMLS:C5679608 semapv:UnspecifiedMatching +Orphanet:156162 Renal ciliopathy oboInOwl:hasDbXref UMLS:C5680652 semapv:UnspecifiedMatching +Orphanet:156165 Retinal ciliopathy oboInOwl:hasDbXref UMLS:C5680651 semapv:UnspecifiedMatching +Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene oboInOwl:hasDbXref UMLS:C5679609 semapv:UnspecifiedMatching +Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene oboInOwl:hasDbXref UMLS:C5680669 semapv:UnspecifiedMatching +Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene oboInOwl:hasDbXref UMLS:C5680670 semapv:UnspecifiedMatching +Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene oboInOwl:hasDbXref UMLS:C5680671 semapv:UnspecifiedMatching +Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene oboInOwl:hasDbXref UMLS:C5680666 semapv:UnspecifiedMatching +Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene oboInOwl:hasDbXref UMLS:C5680667 semapv:UnspecifiedMatching +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref MESH:C536061 semapv:UnspecifiedMatching +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref OMIM:166705 semapv:UnspecifiedMatching +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref UMLS:C1833698 semapv:UnspecifiedMatching +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes oboInOwl:hasDbXref UMLS:C5680668 semapv:UnspecifiedMatching +Orphanet:156207 Macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching +Orphanet:156207 Macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching +Orphanet:156207 Macroglossia oboInOwl:hasDbXref MESH:D008260 semapv:UnspecifiedMatching +Orphanet:156207 Macroglossia oboInOwl:hasDbXref MedDRA:10025391 semapv:UnspecifiedMatching +Orphanet:156207 Macroglossia oboInOwl:hasDbXref UMLS:C0024421 semapv:UnspecifiedMatching +Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:156212 Hypoglossia/aglossia oboInOwl:hasDbXref UMLS:C5680662 semapv:UnspecifiedMatching +Orphanet:156215 Oromandibular-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C5680663 semapv:UnspecifiedMatching +Orphanet:156215 Oromandibular-limb anomalies syndrome oboInOwl:hasDbXref icd11:LD25.0 semapv:UnspecifiedMatching +Orphanet:156224 Paralytic facial malformation oboInOwl:hasDbXref UMLS:C5680664 semapv:UnspecifiedMatching +Orphanet:156230 Facial arteriovenous malformation oboInOwl:hasDbXref UMLS:C5680665 semapv:UnspecifiedMatching +Orphanet:156237 Syndrome or malformation associated with head and neck malformations oboInOwl:hasDbXref UMLS:C5680659 semapv:UnspecifiedMatching +Orphanet:156243 Pinnae and external auditory canal anomaly oboInOwl:hasDbXref UMLS:C5680660 semapv:UnspecifiedMatching +Orphanet:156246 Nose and cavum anomaly oboInOwl:hasDbXref UMLS:C5680661 semapv:UnspecifiedMatching +Orphanet:156246 Nose and cavum anomaly oboInOwl:hasDbXref icd11:LA70 semapv:UnspecifiedMatching +Orphanet:156249 Larynx anomaly oboInOwl:hasDbXref ICD10:Q31 semapv:UnspecifiedMatching +Orphanet:156249 Larynx anomaly oboInOwl:hasDbXref ICD10:Q31 semapv:UnspecifiedMatching +Orphanet:156249 Larynx anomaly oboInOwl:hasDbXref icd11:LA71 semapv:UnspecifiedMatching +Orphanet:156252 Tracheal anomaly oboInOwl:hasDbXref UMLS:C5680647 semapv:UnspecifiedMatching +Orphanet:156252 Tracheal anomaly oboInOwl:hasDbXref icd11:LA73 semapv:UnspecifiedMatching +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref MESH:C535769 semapv:UnspecifiedMatching +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref OMIM:247410 semapv:UnspecifiedMatching +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref UMLS:C1855477 semapv:UnspecifiedMatching +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1564 Dandy-Walker malformation-facial hemangioma syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:1564 Dandy-Walker malformation-facial hemangioma syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:156532 Rare syndrome with cardiac malformations oboInOwl:hasDbXref UMLS:C5680646 semapv:UnspecifiedMatching +Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref MESH:C535771 semapv:UnspecifiedMatching +Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:220220 semapv:UnspecifiedMatching +Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C1857351 semapv:UnspecifiedMatching +Orphanet:156601 Rare genetic hepatic disease oboInOwl:hasDbXref UMLS:C5680645 semapv:UnspecifiedMatching +Orphanet:156604 Genetic parenchymatous liver disease oboInOwl:hasDbXref UMLS:C5680644 semapv:UnspecifiedMatching +Orphanet:156607 Genetic biliary tract disease oboInOwl:hasDbXref UMLS:C5680643 semapv:UnspecifiedMatching +Orphanet:156610 Rare genetic respiratory disease oboInOwl:hasDbXref UMLS:C5680642 semapv:UnspecifiedMatching +Orphanet:156619 Rare genetic urogenital disease oboInOwl:hasDbXref UMLS:C5680641 semapv:UnspecifiedMatching +Orphanet:156622 Genetic urogenital tract malformation oboInOwl:hasDbXref UMLS:C5680640 semapv:UnspecifiedMatching +Orphanet:156629 Rare genetic cause of hypertension oboInOwl:hasDbXref UMLS:C5680639 semapv:UnspecifiedMatching +Orphanet:156638 Rare genetic endocrine disease oboInOwl:hasDbXref UMLS:C5680638 semapv:UnspecifiedMatching +Orphanet:156643 Genetic endocrine growth disease oboInOwl:hasDbXref UMLS:C5680637 semapv:UnspecifiedMatching +Orphanet:156723 Piepkorn dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref MESH:C563869 semapv:UnspecifiedMatching +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref OMIM:608728 semapv:UnspecifiedMatching +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref UMLS:C1837481 semapv:UnspecifiedMatching +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref MESH:C537999 semapv:UnspecifiedMatching +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref OMIM:224400 semapv:UnspecifiedMatching +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref UMLS:C0432209 semapv:UnspecifiedMatching +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref MESH:C535773 semapv:UnspecifiedMatching +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref UMLS:C0796254 semapv:UnspecifiedMatching +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref MESH:C535992 semapv:UnspecifiedMatching +Orphanet:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref OMIM:278800 semapv:UnspecifiedMatching +Orphanet:1569 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref UMLS:C0265201 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MESH:C535589 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching +Orphanet:157 Carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS:C0342790 semapv:UnspecifiedMatching +Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref MESH:C538062 semapv:UnspecifiedMatching +Orphanet:1570 Symbrachydactyly of hands and feet oboInOwl:hasDbXref UMLS:C2931719 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref MESH:C537209 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref OMIM:267750 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref OMIM:618458 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref UMLS:C1849409 semapv:UnspecifiedMatching +Orphanet:1571 Knobloch syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.0 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.0 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.1 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.1 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.2 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.8 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.9 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref ICD10:D83.9 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref MESH:D017074 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref MedDRA:10010112 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:146830 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:240500 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:607594 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613493 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613494 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613495 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:613496 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:614699 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:615577 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref OMIM:616576 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref UMLS:C0009447 semapv:UnspecifiedMatching +Orphanet:1572 Common variable immunodeficiency oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref MESH:C562793 semapv:UnspecifiedMatching +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref OMIM:241530 semapv:UnspecifiedMatching +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref UMLS:C1853271 semapv:UnspecifiedMatching +Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching +Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching +Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref MESH:C537698 semapv:UnspecifiedMatching +Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref OMIM:601553 semapv:UnspecifiedMatching +Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref UMLS:C1832162 semapv:UnspecifiedMatching +Orphanet:1573 Hypotrichosis with juvenile macular degeneration oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref MESH:C538364 semapv:UnspecifiedMatching +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref OMIM:267760 semapv:UnspecifiedMatching +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome oboInOwl:hasDbXref UMLS:C2931831 semapv:UnspecifiedMatching +Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref MESH:C537500 semapv:UnspecifiedMatching +Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching +Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching +Orphanet:1576 Infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C0795996 semapv:UnspecifiedMatching +Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching +Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref UMLS:C5680650 semapv:UnspecifiedMatching +Orphanet:157713 Congenital or early infantile CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching +Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref UMLS:C5680648 semapv:UnspecifiedMatching +Orphanet:157716 Late infantile CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching +Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref UMLS:C5680649 semapv:UnspecifiedMatching +Orphanet:157719 Juvenile or adult CACH syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching +Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref MedDRA:10059119 semapv:UnspecifiedMatching +Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref UMLS:C0266642 semapv:UnspecifiedMatching +Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching +Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref UMLS:C1863870 semapv:UnspecifiedMatching +Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref MESH:D018323 semapv:UnspecifiedMatching +Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref UMLS:C0206732 semapv:UnspecifiedMatching +Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref icd11:XH9GF8 semapv:UnspecifiedMatching +Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref OMIM:601228 semapv:UnspecifiedMatching +Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref OMIM:610069 semapv:UnspecifiedMatching +Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref UMLS:C5192681 semapv:UnspecifiedMatching +Orphanet:157794 Hereditary mixed polyposis syndrome oboInOwl:hasDbXref icd11:2E92.40 semapv:UnspecifiedMatching +Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref MedDRA:10085922 semapv:UnspecifiedMatching +Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref OMIM:617108 semapv:UnspecifiedMatching +Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref UMLS:C4296896 semapv:UnspecifiedMatching +Orphanet:157798 Serrated polyposis syndrome oboInOwl:hasDbXref icd11:2E92.40 semapv:UnspecifiedMatching +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref MESH:C538382 semapv:UnspecifiedMatching +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref UMLS:C1849700 semapv:UnspecifiedMatching +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref OMIM:609432 semapv:UnspecifiedMatching +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref UMLS:C1836206 semapv:UnspecifiedMatching +Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref UMLS:C5190522 semapv:UnspecifiedMatching +Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching +Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:610313 semapv:UnspecifiedMatching +Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:617055 semapv:UnspecifiedMatching +Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MESH:D020232 semapv:UnspecifiedMatching +Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref MedDRA:10066431 semapv:UnspecifiedMatching +Orphanet:157823 Klüver-Bucy syndrome oboInOwl:hasDbXref UMLS:C0270707 semapv:UnspecifiedMatching +Orphanet:157826 Congenital epulis oboInOwl:hasDbXref ICD10:K06.8 semapv:UnspecifiedMatching +Orphanet:157826 Congenital epulis oboInOwl:hasDbXref ICD10:K06.8 semapv:UnspecifiedMatching +Orphanet:157826 Congenital epulis oboInOwl:hasDbXref UMLS:C0376319 semapv:UnspecifiedMatching +Orphanet:157832 Craniorhiny oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:157832 Craniorhiny oboInOwl:hasDbXref MESH:C565144 semapv:UnspecifiedMatching +Orphanet:157832 Craniorhiny oboInOwl:hasDbXref OMIM:123050 semapv:UnspecifiedMatching +Orphanet:157832 Craniorhiny oboInOwl:hasDbXref UMLS:C1852501 semapv:UnspecifiedMatching +Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching +Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MESH:D051302 semapv:UnspecifiedMatching +Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref MedDRA:10019461 semapv:UnspecifiedMatching +Orphanet:157835 Paroxysmal hemicrania oboInOwl:hasDbXref UMLS:C1399352 semapv:UnspecifiedMatching +Orphanet:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref MESH:D051303 semapv:UnspecifiedMatching +Orphanet:157843 Trigeminal autonomic cephalalgia oboInOwl:hasDbXref UMLS:C1565172 semapv:UnspecifiedMatching +Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref MESH:C548080 semapv:UnspecifiedMatching +Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref OMIM:606159 semapv:UnspecifiedMatching +Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref UMLS:C1853578 semapv:UnspecifiedMatching +Orphanet:157846 Neuroferritinopathy oboInOwl:hasDbXref icd11:8A01.1Y semapv:UnspecifiedMatching +Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 semapv:UnspecifiedMatching +Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching +Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C0018523 semapv:UnspecifiedMatching +Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:157855 HARP syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:157855 HARP syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:157855 HARP syndrome oboInOwl:hasDbXref OMIM:607236 semapv:UnspecifiedMatching +Orphanet:157855 HARP syndrome oboInOwl:hasDbXref UMLS:C1846582 semapv:UnspecifiedMatching +Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref MESH:C566398 semapv:UnspecifiedMatching +Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching +Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref UMLS:C1864112 semapv:UnspecifiedMatching +Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref MESH:C565747 semapv:UnspecifiedMatching +Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref OMIM:604802 semapv:UnspecifiedMatching +Orphanet:157946 Huntington disease-like 3 oboInOwl:hasDbXref UMLS:C1858114 semapv:UnspecifiedMatching +Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref OMIM:233650 semapv:UnspecifiedMatching +Orphanet:157949 Combined immunodeficiency with granulomatosis oboInOwl:hasDbXref UMLS:C5191061 semapv:UnspecifiedMatching +Orphanet:157954 ANE syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:157954 ANE syndrome oboInOwl:hasDbXref MESH:C567425 semapv:UnspecifiedMatching +Orphanet:157954 ANE syndrome oboInOwl:hasDbXref OMIM:612079 semapv:UnspecifiedMatching +Orphanet:157954 ANE syndrome oboInOwl:hasDbXref UMLS:C2677535 semapv:UnspecifiedMatching +Orphanet:157962 Oculoauricular syndrome, Schorderet type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:157962 Oculoauricular syndrome, Schorderet type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:157962 Oculoauricular syndrome, Schorderet type oboInOwl:hasDbXref OMIM:612109 semapv:UnspecifiedMatching +Orphanet:157962 Oculoauricular syndrome, Schorderet type oboInOwl:hasDbXref UMLS:C4706592 semapv:UnspecifiedMatching +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C567340 semapv:UnspecifiedMatching +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:612350 semapv:UnspecifiedMatching +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2676510 semapv:UnspecifiedMatching +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref MESH:C567708 semapv:UnspecifiedMatching +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref OMIM:613205 semapv:UnspecifiedMatching +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref UMLS:C2750785 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching +Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching +Orphanet:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching +Orphanet:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019624 semapv:UnspecifiedMatching +Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref UMLS:C0347404 semapv:UnspecifiedMatching +Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:157997 Benign cephalic histiocytosis oboInOwl:hasDbXref UMLS:C0347403 semapv:UnspecifiedMatching +Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref MESH:C536778 semapv:UnspecifiedMatching +Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref OMIM:212140 semapv:UnspecifiedMatching +Orphanet:158 Systemic primary carnitine deficiency oboInOwl:hasDbXref UMLS:C0342788 semapv:UnspecifiedMatching +Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref OMIM:601362 semapv:UnspecifiedMatching +Orphanet:1580 Distal deletion 10p oboInOwl:hasDbXref UMLS:C4304502 semapv:UnspecifiedMatching +Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 semapv:UnspecifiedMatching +Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref UMLS:C0043324 semapv:UnspecifiedMatching +Orphanet:158000 Juvenile xanthogranuloma oboInOwl:hasDbXref icd11:2B31.0 semapv:UnspecifiedMatching +Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref MedDRA:10052575 semapv:UnspecifiedMatching +Orphanet:158003 Xanthoma disseminatum oboInOwl:hasDbXref UMLS:C0043322 semapv:UnspecifiedMatching +Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158008 Papular xanthoma oboInOwl:hasDbXref UMLS:C4707373 semapv:UnspecifiedMatching +Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref MESH:D058252 semapv:UnspecifiedMatching +Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref UMLS:C1275339 semapv:UnspecifiedMatching +Orphanet:158011 Necrobiotic xanthogranuloma oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MESH:D015618 semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MedDRA:10063397 semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref UMLS:C0019625 semapv:UnspecifiedMatching +Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref icd11:EK92 semapv:UnspecifiedMatching +Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref UMLS:C2825741 semapv:UnspecifiedMatching +Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref UMLS:C4707331 semapv:UnspecifiedMatching +Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref OMIM:142630 semapv:UnspecifiedMatching +Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref UMLS:C4749819 semapv:UnspecifiedMatching +Orphanet:158025 Hereditary progressive mucinous histiocytosis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching +Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref MESH:D012618 semapv:UnspecifiedMatching +Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching +Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref UMLS:C0036489 semapv:UnspecifiedMatching +Orphanet:158029 Sea-blue histiocytosis oboInOwl:hasDbXref icd11:EK92 semapv:UnspecifiedMatching +Orphanet:158032 Hemophagocytic syndrome oboInOwl:hasDbXref MedDRA:10058125 semapv:UnspecifiedMatching +Orphanet:158032 Hemophagocytic syndrome oboInOwl:hasDbXref UMLS:C0024291 semapv:UnspecifiedMatching +Orphanet:158032 Hemophagocytic syndrome oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching +Orphanet:158038 Primary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching +Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0019068 semapv:UnspecifiedMatching +Orphanet:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref ICD10:D76.2 semapv:UnspecifiedMatching +Orphanet:158048 Hemophagocytic syndrome associated with an infection oboInOwl:hasDbXref UMLS:C5207031 semapv:UnspecifiedMatching +Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease oboInOwl:hasDbXref UMLS:C5190710 semapv:UnspecifiedMatching +Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref MESH:D055501 semapv:UnspecifiedMatching +Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref MedDRA:10053867 semapv:UnspecifiedMatching +Orphanet:158061 Macrophage activation syndrome oboInOwl:hasDbXref UMLS:C1096155 semapv:UnspecifiedMatching +Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1581 Non-distal deletion 10q oboInOwl:hasDbXref UMLS:C4749375 semapv:UnspecifiedMatching +Orphanet:158124 Genetic dementia oboInOwl:hasDbXref UMLS:C5680680 semapv:UnspecifiedMatching +Orphanet:158266 Huntington disease-like syndrome oboInOwl:hasDbXref MESH:C580174 semapv:UnspecifiedMatching +Orphanet:158266 Huntington disease-like syndrome oboInOwl:hasDbXref UMLS:C3711380 semapv:UnspecifiedMatching +Orphanet:158300 Rare genetic hematologic disease oboInOwl:hasDbXref UMLS:C5680681 semapv:UnspecifiedMatching +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref MESH:C536183 semapv:UnspecifiedMatching +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref OMIM:604536 semapv:UnspecifiedMatching +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref UMLS:C1858302 semapv:UnspecifiedMatching +Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref UMLS:C4518087 semapv:UnspecifiedMatching +Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only oboInOwl:hasDbXref UMLS:C4302547 semapv:UnspecifiedMatching +Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref MESH:C563730 semapv:UnspecifiedMatching +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref OMIM:609352 semapv:UnspecifiedMatching +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref UMLS:C1836284 semapv:UnspecifiedMatching +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref MESH:C567408 semapv:UnspecifiedMatching +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref OMIM:612138 semapv:UnspecifiedMatching +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref UMLS:C2677349 semapv:UnspecifiedMatching +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref MESH:C535493 semapv:UnspecifiedMatching +Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref OMIM:609638 semapv:UnspecifiedMatching +Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref UMLS:C1864826 semapv:UnspecifiedMatching +Orphanet:158687 Lethal acantholytic erosive disorder oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:1587 Monosomy 13q14 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1587 Monosomy 13q14 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1587 Monosomy 13q14 oboInOwl:hasDbXref OMIM:613884 semapv:UnspecifiedMatching +Orphanet:1587 Monosomy 13q14 oboInOwl:hasDbXref UMLS:C4749304 semapv:UnspecifiedMatching +Orphanet:1587 Monosomy 13q14 oboInOwl:hasDbXref icd11:LD44.D semapv:UnspecifiedMatching +Orphanet:158766 Typical urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:158766 Typical urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:158766 Typical urticaria pigmentosa oboInOwl:hasDbXref UMLS:C5680683 semapv:UnspecifiedMatching +Orphanet:158766 Typical urticaria pigmentosa oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching +Orphanet:158769 Plaque-form urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:158769 Plaque-form urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:158769 Plaque-form urticaria pigmentosa oboInOwl:hasDbXref UMLS:C5680682 semapv:UnspecifiedMatching +Orphanet:158769 Plaque-form urticaria pigmentosa oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching +Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref UMLS:C5680684 semapv:UnspecifiedMatching +Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching +Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref UMLS:C3897042 semapv:UnspecifiedMatching +Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching +Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref UMLS:C4509020 semapv:UnspecifiedMatching +Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MESH:C562812 semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MedDRA:10078729 semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 semapv:UnspecifiedMatching +Orphanet:159 Carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS:C0342791 semapv:UnspecifiedMatching +Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref OMIM:602553 semapv:UnspecifiedMatching +Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref UMLS:C4706502 semapv:UnspecifiedMatching +Orphanet:1590 Distal deletion 13q oboInOwl:hasDbXref icd11:LD44.D semapv:UnspecifiedMatching +Orphanet:1596 Distal deletion 15q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1596 Distal deletion 15q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1596 Distal deletion 15q oboInOwl:hasDbXref OMIM:612626 semapv:UnspecifiedMatching +Orphanet:1596 Distal deletion 15q oboInOwl:hasDbXref UMLS:C4707662 semapv:UnspecifiedMatching +Orphanet:1596 Distal deletion 15q oboInOwl:hasDbXref icd11:LD44.F semapv:UnspecifiedMatching +Orphanet:1597 Distal deletion 17q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1597 Distal deletion 17q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1597 Distal deletion 17q oboInOwl:hasDbXref UMLS:C4275171 semapv:UnspecifiedMatching +Orphanet:1597 Distal deletion 17q oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching +Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref MESH:C538309 semapv:UnspecifiedMatching +Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref OMIM:146390 semapv:UnspecifiedMatching +Orphanet:1598 Monosomy 18p oboInOwl:hasDbXref UMLS:C0432442 semapv:UnspecifiedMatching +Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching +Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref UMLS:C0339537 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref MESH:D005871 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref MedDRA:10050251 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref OMIM:148000 semapv:UnspecifiedMatching +Orphanet:160 Castleman disease oboInOwl:hasDbXref UMLS:C0017531 semapv:UnspecifiedMatching +Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref MESH:C536580 semapv:UnspecifiedMatching +Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref OMIM:601808 semapv:UnspecifiedMatching +Orphanet:1600 Monosomy 18q oboInOwl:hasDbXref UMLS:C0432443 semapv:UnspecifiedMatching +Orphanet:160148 Cap polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:160148 Cap polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:160148 Cap polyposis oboInOwl:hasDbXref UMLS:C4303971 semapv:UnspecifiedMatching +Orphanet:160148 Cap polyposis oboInOwl:hasDbXref icd11:2E92.40 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref MESH:C535362 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref MedDRA:10082398 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching +Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref UMLS:C1842870 semapv:UnspecifiedMatching +Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref MESH:C538316 semapv:UnspecifiedMatching +Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931816 semapv:UnspecifiedMatching +Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref UMLS:C4305131 semapv:UnspecifiedMatching +Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref OMIM:613792 semapv:UnspecifiedMatching +Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref UMLS:C4706503 semapv:UnspecifiedMatching +Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref MESH:C536808 semapv:UnspecifiedMatching +Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref OMIM:615433 semapv:UnspecifiedMatching +Orphanet:1621 3q13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931338 semapv:UnspecifiedMatching +Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis oboInOwl:hasDbXref UMLS:C3839990 semapv:UnspecifiedMatching +Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref ICD10:Q16.3 semapv:UnspecifiedMatching +Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref ICD10:Q16.3 semapv:UnspecifiedMatching +Orphanet:162526 Isolated congenital auditory ossicle malformation oboInOwl:hasDbXref UMLS:C0158587 semapv:UnspecifiedMatching +Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref MESH:C537647 semapv:UnspecifiedMatching +Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref UMLS:C2931574 semapv:UnspecifiedMatching +Orphanet:1627 Deletion 5q35 oboInOwl:hasDbXref icd11:LD44.50 semapv:UnspecifiedMatching +Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching +Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching +Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 semapv:UnspecifiedMatching +Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 semapv:UnspecifiedMatching +Orphanet:163 Hereditary hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS:C1833213 semapv:UnspecifiedMatching +Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration oboInOwl:hasDbXref UMLS:C5679571 semapv:UnspecifiedMatching +Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.1 semapv:UnspecifiedMatching +Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057903 semapv:UnspecifiedMatching +Orphanet:163525 Subacute cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C0024140 semapv:UnspecifiedMatching +Orphanet:163531 Chronic cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10057929 semapv:UnspecifiedMatching +Orphanet:163582 Rare bacterial infectious disease oboInOwl:hasDbXref UMLS:C5681850 semapv:UnspecifiedMatching +Orphanet:163585 Rare viral disease oboInOwl:hasDbXref UMLS:C5680445 semapv:UnspecifiedMatching +Orphanet:163588 Rare parasitic disease oboInOwl:hasDbXref UMLS:C5680446 semapv:UnspecifiedMatching +Orphanet:163591 Rare mycosis oboInOwl:hasDbXref UMLS:C5680444 semapv:UnspecifiedMatching +Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching +Orphanet:163596 Hb Bart's hydrops fetalis oboInOwl:hasDbXref UMLS:C0272005 semapv:UnspecifiedMatching +Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref UMLS:C4706504 semapv:UnspecifiedMatching +Orphanet:1636 Distal monosomy 7q36 oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching +Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption oboInOwl:hasDbXref UMLS:C5681851 semapv:UnspecifiedMatching +Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref OMIM:614569 semapv:UnspecifiedMatching +Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref UMLS:C0024454 semapv:UnspecifiedMatching +Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium oboInOwl:hasDbXref UMLS:C5680447 semapv:UnspecifiedMatching +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:602611 semapv:UnspecifiedMatching +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4305147 semapv:UnspecifiedMatching +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref MESH:C567128 semapv:UnspecifiedMatching +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref UMLS:C2673649 semapv:UnspecifiedMatching +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref OMIM:600561 semapv:UnspecifiedMatching +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref UMLS:C4305148 semapv:UnspecifiedMatching +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref OMIM:271620 semapv:UnspecifiedMatching +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref UMLS:C4304888 semapv:UnspecifiedMatching +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref OMIM:184000 semapv:UnspecifiedMatching +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref UMLS:C4305149 semapv:UnspecifiedMatching +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref OMIM:183850 semapv:UnspecifiedMatching +Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref UMLS:C1866727 semapv:UnspecifiedMatching +Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref OMIM:610042 semapv:UnspecifiedMatching +Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5575702 semapv:UnspecifiedMatching +Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref OMIM:613724 semapv:UnspecifiedMatching +Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome oboInOwl:hasDbXref UMLS:C4518784 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref MESH:C564710 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref MedDRA:10083099 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching +Orphanet:163690 Hypotonia-cystinuria syndrome oboInOwl:hasDbXref UMLS:C1848030 semapv:UnspecifiedMatching +Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching +Orphanet:163693 2p21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304537 semapv:UnspecifiedMatching +Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref OMIM:254900 semapv:UnspecifiedMatching +Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref UMLS:C0751779 semapv:UnspecifiedMatching +Orphanet:163696 Action myoclonus-renal failure syndrome oboInOwl:hasDbXref icd11:GB4Z semapv:UnspecifiedMatching +Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MESH:D018234 semapv:UnspecifiedMatching +Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref MedDRA:10001882 semapv:UnspecifiedMatching +Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref OMIM:606243 semapv:UnspecifiedMatching +Orphanet:163699 Alveolar soft tissue sarcoma oboInOwl:hasDbXref UMLS:C0206657 semapv:UnspecifiedMatching +Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref MedDRA:10079438 semapv:UnspecifiedMatching +Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref UMLS:C4049262 semapv:UnspecifiedMatching +Orphanet:163703 Febrile infection-related epilepsy syndrome oboInOwl:hasDbXref icd11:8A63.Y semapv:UnspecifiedMatching +Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref UMLS:C4755310 semapv:UnspecifiedMatching +Orphanet:163708 Cryptogenic late-onset epileptic spasms oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611630 semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:614417 semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:615697 semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C4749273 semapv:UnspecifiedMatching +Orphanet:163717 Benign familial mesial temporal lobe epilepsy oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref OMIM:300643 semapv:UnspecifiedMatching +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref UMLS:C4707308 semapv:UnspecifiedMatching +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref MESH:C535499 semapv:UnspecifiedMatching +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref OMIM:608105 semapv:UnspecifiedMatching +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref UMLS:C1842531 semapv:UnspecifiedMatching +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref MESH:C563789 semapv:UnspecifiedMatching +Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref OMIM:609136 semapv:UnspecifiedMatching +Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease oboInOwl:hasDbXref UMLS:C1836727 semapv:UnspecifiedMatching +Orphanet:163921 Posttransplant acute limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:163921 Posttransplant acute limbic encephalitis oboInOwl:hasDbXref UMLS:C4750744 semapv:UnspecifiedMatching +Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref ICD10:L40.3 semapv:UnspecifiedMatching +Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref ICD10:L40.3 semapv:UnspecifiedMatching +Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref MedDRA:10050185 semapv:UnspecifiedMatching +Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref UMLS:C0030246 semapv:UnspecifiedMatching +Orphanet:163927 Pustulosis palmaris et plantaris oboInOwl:hasDbXref icd11:EA90.42 semapv:UnspecifiedMatching +Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref ICD10:L40.2 semapv:UnspecifiedMatching +Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref ICD10:L40.2 semapv:UnspecifiedMatching +Orphanet:163931 Acrodermatitis continua of Hallopeau oboInOwl:hasDbXref UMLS:C0392439 semapv:UnspecifiedMatching +Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10069664 semapv:UnspecifiedMatching +Orphanet:163934 Atopic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C1274788 semapv:UnspecifiedMatching +Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref OMIM:300749 semapv:UnspecifiedMatching +Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref UMLS:C2677903 semapv:UnspecifiedMatching +Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching +Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref OMIM:300860 semapv:UnspecifiedMatching +Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref UMLS:C4512071 semapv:UnspecifiedMatching +Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref OMIM:300864 semapv:UnspecifiedMatching +Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome oboInOwl:hasDbXref UMLS:C3275487 semapv:UnspecifiedMatching +Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref OMIM:300863 semapv:UnspecifiedMatching +Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type oboInOwl:hasDbXref UMLS:C4304401 semapv:UnspecifiedMatching +Orphanet:163971 X-linked intellectual disability, Cilliers type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163971 X-linked intellectual disability, Cilliers type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163971 X-linked intellectual disability, Cilliers type oboInOwl:hasDbXref UMLS:C4305024 semapv:UnspecifiedMatching +Orphanet:163971 X-linked intellectual disability, Cilliers type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref OMIM:301030 semapv:UnspecifiedMatching +Orphanet:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref UMLS:C4305072 semapv:UnspecifiedMatching +Orphanet:163976 X-linked intellectual disability, Van Esch type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref OMIM:300712 semapv:UnspecifiedMatching +Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref UMLS:C4750743 semapv:UnspecifiedMatching +Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref OMIM:309640 semapv:UnspecifiedMatching +Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching +Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref UMLS:C5191643 semapv:UnspecifiedMatching +Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:164001 Rare odontal or periodontal disorder oboInOwl:hasDbXref UMLS:C5680435 semapv:UnspecifiedMatching +Orphanet:164004 Middle and/or inner ear anomaly oboInOwl:hasDbXref MedDRA:10060957 semapv:UnspecifiedMatching +Orphanet:164004 Middle and/or inner ear anomaly oboInOwl:hasDbXref UMLS:C0266599 semapv:UnspecifiedMatching +Orphanet:1642 Distal deletion 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1642 Distal deletion 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1642 Distal deletion 9p oboInOwl:hasDbXref MESH:C538025 semapv:UnspecifiedMatching +Orphanet:1642 Distal deletion 9p oboInOwl:hasDbXref UMLS:C0265425 semapv:UnspecifiedMatching +Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4512072 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref MESH:C536297 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:400042 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching +Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref UMLS:C1507149 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref MESH:C538088 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref MedDRA:10088432 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref OMIM:164180 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref UMLS:C0796092 semapv:UnspecifiedMatching +Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching +Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation oboInOwl:hasDbXref UMLS:C4707660 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref MESH:C565789 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:604348 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:615224 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:616882 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:620015 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref UMLS:C1858496 semapv:UnspecifiedMatching +Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref icd11:7A6Z semapv:UnspecifiedMatching +Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:164823 Rare acquired aplastic anemia oboInOwl:hasDbXref UMLS:C5680440 semapv:UnspecifiedMatching +Orphanet:165 Neutral lipid storage disease oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref MESH:D057973 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref MedDRA:10069199 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:300554 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:308990 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref OMIM:310468 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref UMLS:C0878681 semapv:UnspecifiedMatching +Orphanet:1652 Dent disease oboInOwl:hasDbXref icd11:GB90.42 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref MESH:D003805 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref UMLS:C0011430 semapv:UnspecifiedMatching +Orphanet:1653 Dentin dysplasia oboInOwl:hasDbXref icd11:LA30.7 semapv:UnspecifiedMatching +Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref MESH:C536478 semapv:UnspecifiedMatching +Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref OMIM:235255 semapv:UnspecifiedMatching +Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome oboInOwl:hasDbXref UMLS:C1856159 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref ICD10:L13.0 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref ICD10:L13.0 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MESH:D003874 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref MedDRA:10012468 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref OMIM:601230 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref UMLS:C0011608 semapv:UnspecifiedMatching +Orphanet:1656 Dermatitis herpetiformis oboInOwl:hasDbXref icd11:EB44 semapv:UnspecifiedMatching +Orphanet:165652 Rare genetic gastroenterological disease oboInOwl:hasDbXref UMLS:C5680439 semapv:UnspecifiedMatching +Orphanet:165655 Genetic intestinal disease oboInOwl:hasDbXref UMLS:C5680438 semapv:UnspecifiedMatching +Orphanet:165658 Genetic gastro-esophageal disease oboInOwl:hasDbXref UMLS:C5680437 semapv:UnspecifiedMatching +Orphanet:165661 Genetic pancreatic disease oboInOwl:hasDbXref UMLS:C5680436 semapv:UnspecifiedMatching +Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref MESH:C535373 semapv:UnspecifiedMatching +Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref OMIM:221810 semapv:UnspecifiedMatching +Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref UMLS:C1857301 semapv:UnspecifiedMatching +Orphanet:1657 Dermatoosteolysis, Kirghizian type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:165704 Non-syndromic urogenital tract malformation oboInOwl:hasDbXref UMLS:C5680443 semapv:UnspecifiedMatching +Orphanet:165707 Syndromic urogenital tract malformation oboInOwl:hasDbXref UMLS:C5680442 semapv:UnspecifiedMatching +Orphanet:165711 Rare abdominal surgical disease oboInOwl:hasDbXref UMLS:C5680441 semapv:UnspecifiedMatching +Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref OMIM:129200 semapv:UnspecifiedMatching +Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref UMLS:C4304581 semapv:UnspecifiedMatching +Orphanet:1658 Absence of fingerprints-congenital milia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref OMIM:614418 semapv:UnspecifiedMatching +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref UMLS:C5191318 semapv:UnspecifiedMatching +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching +Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref MESH:C538220 semapv:UnspecifiedMatching +Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref OMIM:221790 semapv:UnspecifiedMatching +Orphanet:1659 Dermatoleukodystrophy oboInOwl:hasDbXref UMLS:C1857314 semapv:UnspecifiedMatching +Orphanet:165955 Wound myiasis oboInOwl:hasDbXref ICD10:B87.1 semapv:UnspecifiedMatching +Orphanet:165955 Wound myiasis oboInOwl:hasDbXref UMLS:C0344061 semapv:UnspecifiedMatching +Orphanet:165955 Wound myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref UMLS:C4707154 semapv:UnspecifiedMatching +Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism oboInOwl:hasDbXref UMLS:C5679570 semapv:UnspecifiedMatching +Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism oboInOwl:hasDbXref UMLS:C5679569 semapv:UnspecifiedMatching +Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref MESH:C538376 semapv:UnspecifiedMatching +Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref OMIM:610021 semapv:UnspecifiedMatching +Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref UMLS:C1864902 semapv:UnspecifiedMatching +Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref icd11:5A45 semapv:UnspecifiedMatching +Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching +Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref UMLS:C1840364 semapv:UnspecifiedMatching +Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching +Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MedDRA:10034699 semapv:UnspecifiedMatching +Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C0007959 semapv:UnspecifiedMatching +Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref MESH:C565103 semapv:UnspecifiedMatching +Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref OMIM:125640 semapv:UnspecifiedMatching +Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref UMLS:C1852144 semapv:UnspecifiedMatching +Orphanet:1660 Dermoodontodysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600204 semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:600969 semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref UMLS:C4707798 semapv:UnspecifiedMatching +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref OMIM:132450 semapv:UnspecifiedMatching +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref UMLS:C4304499 semapv:UnspecifiedMatching +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref MESH:C563291 semapv:UnspecifiedMatching +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref OMIM:601560 semapv:UnspecifiedMatching +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref UMLS:C1832112 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref OMIM:607131 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref UMLS:C4304500 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref MESH:C563736 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref OMIM:609324 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref UMLS:C1836315 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref MESH:C563735 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref OMIM:609325 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref UMLS:C1836307 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:250410 semapv:UnspecifiedMatching +Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C5190709 semapv:UnspecifiedMatching +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref MESH:C565400 semapv:UnspecifiedMatching +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref OMIM:250230 semapv:UnspecifiedMatching +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type oboInOwl:hasDbXref UMLS:C1855217 semapv:UnspecifiedMatching +Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref MESH:C536716 semapv:UnspecifiedMatching +Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref OMIM:225753 semapv:UnspecifiedMatching +Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref UMLS:C1856974 semapv:UnspecifiedMatching +Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref OMIM:610204 semapv:UnspecifiedMatching +Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref UMLS:C1857762 semapv:UnspecifiedMatching +Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref MESH:C548074 semapv:UnspecifiedMatching +Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref OMIM:611523 semapv:UnspecifiedMatching +Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref UMLS:C1969084 semapv:UnspecifiedMatching +Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref MESH:D056725 semapv:UnspecifiedMatching +Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching +Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref UMLS:C1264039 semapv:UnspecifiedMatching +Orphanet:166078 Von Willebrand disease type 1 oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching +Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref UMLS:C1264040 semapv:UnspecifiedMatching +Orphanet:166081 Von Willebrand disease type 2 oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref UMLS:C1282968 semapv:UnspecifiedMatching +Orphanet:166084 Von Willebrand disease type 2A oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref UMLS:C1282971 semapv:UnspecifiedMatching +Orphanet:166087 Von Willebrand disease type 2B oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref UMLS:C1282974 semapv:UnspecifiedMatching +Orphanet:166090 Von Willebrand disease type 2M oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref UMLS:C1282975 semapv:UnspecifiedMatching +Orphanet:166093 Von Willebrand disease type 2N oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref MESH:D056729 semapv:UnspecifiedMatching +Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching +Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref UMLS:C1264041 semapv:UnspecifiedMatching +Orphanet:166096 Von Willebrand disease type 3 oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching +Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref MESH:C535376 semapv:UnspecifiedMatching +Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref OMIM:304730 semapv:UnspecifiedMatching +Orphanet:1661 X-linked corneal dermoid oboInOwl:hasDbXref UMLS:C1844671 semapv:UnspecifiedMatching +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref MESH:C537494 semapv:UnspecifiedMatching +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref UMLS:C1861481 semapv:UnspecifiedMatching +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:618855 semapv:UnspecifiedMatching +Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS:C4755278 semapv:UnspecifiedMatching +Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref MESH:C567357 semapv:UnspecifiedMatching +Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref OMIM:612292 semapv:UnspecifiedMatching +Orphanet:166108 Intellectual disability, Birk-Barel type oboInOwl:hasDbXref UMLS:C2676770 semapv:UnspecifiedMatching +Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref ICD10:L44.8 semapv:UnspecifiedMatching +Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref MedDRA:10065247 semapv:UnspecifiedMatching +Orphanet:166113 Bazex syndrome oboInOwl:hasDbXref UMLS:C0406355 semapv:UnspecifiedMatching +Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref MESH:C563484 semapv:UnspecifiedMatching +Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching +Orphanet:166119 Isolated osteopoikilosis oboInOwl:hasDbXref UMLS:C1833699 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref MESH:C536920 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:275210 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref OMIM:619793 semapv:UnspecifiedMatching +Orphanet:1662 Restrictive dermopathy oboInOwl:hasDbXref UMLS:C0406585 semapv:UnspecifiedMatching +Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:125490 semapv:UnspecifiedMatching +Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:605594 semapv:UnspecifiedMatching +Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref UMLS:C2973527 semapv:UnspecifiedMatching +Orphanet:166260 Dentinogenesis imperfecta type 2 oboInOwl:hasDbXref icd11:LA30.8 semapv:UnspecifiedMatching +Orphanet:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C538216 semapv:UnspecifiedMatching +Orphanet:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:125500 semapv:UnspecifiedMatching +Orphanet:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0399378 semapv:UnspecifiedMatching +Orphanet:166265 Dentinogenesis imperfecta type 3 oboInOwl:hasDbXref icd11:LA30.8 semapv:UnspecifiedMatching +Orphanet:166272 Odontochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166272 Odontochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166272 Odontochondrodysplasia oboInOwl:hasDbXref MESH:C535792 semapv:UnspecifiedMatching +Orphanet:166272 Odontochondrodysplasia oboInOwl:hasDbXref OMIM:184260 semapv:UnspecifiedMatching +Orphanet:166272 Odontochondrodysplasia oboInOwl:hasDbXref UMLS:C2745953 semapv:UnspecifiedMatching +Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref OMIM:604922 semapv:UnspecifiedMatching +Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia oboInOwl:hasDbXref UMLS:C4518794 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref ICD10:I49.5 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MESH:D012804 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref MedDRA:10040639 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:163800 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:182190 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:608567 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:614090 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref OMIM:619464 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref UMLS:C0340491 semapv:UnspecifiedMatching +Orphanet:166282 Familial sick sinus syndrome oboInOwl:hasDbXref icd11:BC65.Y semapv:UnspecifiedMatching +Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasDbXref UMLS:C0473579 semapv:UnspecifiedMatching +Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 semapv:UnspecifiedMatching +Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching +Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref UMLS:C0012602 semapv:UnspecifiedMatching +Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref icd11:1F66.Y semapv:UnspecifiedMatching +Orphanet:166295 Benign non-familial infantile seizures oboInOwl:hasDbXref UMLS:C5680425 semapv:UnspecifiedMatching +Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching +Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref UMLS:C4749347 semapv:UnspecifiedMatching +Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching +Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref ICD10:G40.1 semapv:UnspecifiedMatching +Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref UMLS:C4749728 semapv:UnspecifiedMatching +Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching +Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref UMLS:C4707564 semapv:UnspecifiedMatching +Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis oboInOwl:hasDbXref icd11:8A60.Y semapv:UnspecifiedMatching +Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref UMLS:C4749346 semapv:UnspecifiedMatching +Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep oboInOwl:hasDbXref icd11:8A61.10 semapv:UnspecifiedMatching +Orphanet:166311 Benign partial infantile seizures oboInOwl:hasDbXref UMLS:C5680426 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609572 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref OMIM:609573 semapv:UnspecifiedMatching +Orphanet:166409 Photosensitive epilepsy oboInOwl:hasDbXref UMLS:C0393720 semapv:UnspecifiedMatching +Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613339 semapv:UnspecifiedMatching +Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref OMIM:613340 semapv:UnspecifiedMatching +Orphanet:166412 Hot water reflex epilepsy oboInOwl:hasDbXref UMLS:C4706506 semapv:UnspecifiedMatching +Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166415 Audiogenic seizures oboInOwl:hasDbXref UMLS:C0751791 semapv:UnspecifiedMatching +Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166418 Eating reflex epilepsy oboInOwl:hasDbXref UMLS:C0393725 semapv:UnspecifiedMatching +Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166421 Orgasm-induced seizures oboInOwl:hasDbXref UMLS:C4706598 semapv:UnspecifiedMatching +Orphanet:166424 Thinking seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166424 Thinking seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166424 Thinking seizures oboInOwl:hasDbXref UMLS:C4706523 semapv:UnspecifiedMatching +Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166427 Startle epilepsy oboInOwl:hasDbXref UMLS:C4706527 semapv:UnspecifiedMatching +Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166430 Micturation-induced seizures oboInOwl:hasDbXref UMLS:C4706587 semapv:UnspecifiedMatching +Orphanet:166433 Reading seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166433 Reading seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:166433 Reading seizures oboInOwl:hasDbXref OMIM:132300 semapv:UnspecifiedMatching +Orphanet:166433 Reading seizures oboInOwl:hasDbXref UMLS:C0278193 semapv:UnspecifiedMatching +Orphanet:166463 Epilepsy syndrome oboInOwl:hasDbXref MESH:D000073376 semapv:UnspecifiedMatching +Orphanet:166466 Neurocutaneous syndrome with epilepsy oboInOwl:hasDbXref UMLS:C5680427 semapv:UnspecifiedMatching +Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature oboInOwl:hasDbXref UMLS:C5680428 semapv:UnspecifiedMatching +Orphanet:166472 Monogenic disease with epilepsy oboInOwl:hasDbXref UMLS:C5680430 semapv:UnspecifiedMatching +Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes oboInOwl:hasDbXref UMLS:C5680431 semapv:UnspecifiedMatching +Orphanet:166478 Cerebral malformation with epilepsy oboInOwl:hasDbXref UMLS:C5680429 semapv:UnspecifiedMatching +Orphanet:166481 Metabolic diseases with epilepsy oboInOwl:hasDbXref UMLS:C1299598 semapv:UnspecifiedMatching +Orphanet:166484 Inflammatory and autoimmune disease with epilepsy oboInOwl:hasDbXref UMLS:C5680433 semapv:UnspecifiedMatching +Orphanet:166487 Cerebral diseases of vascular origin with epilepsy oboInOwl:hasDbXref UMLS:C5680434 semapv:UnspecifiedMatching +Orphanet:166490 Infectious disease with epilepsy oboInOwl:hasDbXref UMLS:C5680432 semapv:UnspecifiedMatching +Orphanet:1665 Sporadic fetal brain disruption sequence oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:1665 Sporadic fetal brain disruption sequence oboInOwl:hasDbXref UMLS:C4706553 semapv:UnspecifiedMatching +Orphanet:1666 Dextrocardia oboInOwl:hasDbXref ICD10:Q24.0 semapv:UnspecifiedMatching +Orphanet:1666 Dextrocardia oboInOwl:hasDbXref MESH:D003914 semapv:UnspecifiedMatching +Orphanet:1666 Dextrocardia oboInOwl:hasDbXref MedDRA:10012592 semapv:UnspecifiedMatching +Orphanet:1666 Dextrocardia oboInOwl:hasDbXref UMLS:C0011813 semapv:UnspecifiedMatching +Orphanet:1666 Dextrocardia oboInOwl:hasDbXref icd11:LA80.1 semapv:UnspecifiedMatching +Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref MESH:C536739 semapv:UnspecifiedMatching +Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 semapv:UnspecifiedMatching +Orphanet:1667 Wolcott-Rallison syndrome oboInOwl:hasDbXref UMLS:C0432217 semapv:UnspecifiedMatching +Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect oboInOwl:hasDbXref UMLS:C5679584 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref MedDRA:10008415 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref UMLS:C0007965 semapv:UnspecifiedMatching +Orphanet:167 Chédiak-Higashi syndrome oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref MESH:C564019 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:520100 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:618662 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref UMLS:C1838912 semapv:UnspecifiedMatching +Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref MedDRA:10012750 semapv:UnspecifiedMatching +Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref OMIM:222500 semapv:UnspecifiedMatching +Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref UMLS:C5679611 semapv:UnspecifiedMatching +Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching +Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching +Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref MedDRA:10087520 semapv:UnspecifiedMatching +Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref UMLS:C0342436 semapv:UnspecifiedMatching +Orphanet:1674 Digitorenocerebral syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10052622 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1959620 semapv:UnspecifiedMatching +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching +Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching +Orphanet:1676 Idiopathic pulmonary artery dilatation oboInOwl:hasDbXref UMLS:C1384816 semapv:UnspecifiedMatching +Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref MESH:D053718 semapv:UnspecifiedMatching +Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref MedDRA:10055046 semapv:UnspecifiedMatching +Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref UMLS:C0263390 semapv:UnspecifiedMatching +Orphanet:167635 Scleromyxedema oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching +Orphanet:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:1677 Familial idiopathic dilatation of the right atrium oboInOwl:hasDbXref UMLS:C4274283 semapv:UnspecifiedMatching +Orphanet:167714 Unclassified acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:167714 Unclassified acute myeloid leukemia oboInOwl:hasDbXref UMLS:C5679583 semapv:UnspecifiedMatching +Orphanet:167759 Hereditary dentin defect oboInOwl:hasDbXref UMLS:C5680465 semapv:UnspecifiedMatching +Orphanet:167762 Rare disease with dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C5680464 semapv:UnspecifiedMatching +Orphanet:1678 Dincsoy-Salih-Patel syndrome oboInOwl:hasDbXref OMIM:601016 semapv:UnspecifiedMatching +Orphanet:1678 Dincsoy-Salih-Patel syndrome oboInOwl:hasDbXref UMLS:C1832874 semapv:UnspecifiedMatching +Orphanet:167848 Rare cardiomyopathy oboInOwl:hasDbXref MESH:D009202 semapv:UnspecifiedMatching +Orphanet:167848 Rare cardiomyopathy oboInOwl:hasDbXref MedDRA:10007636 semapv:UnspecifiedMatching +Orphanet:167848 Rare cardiomyopathy oboInOwl:hasDbXref UMLS:C5680467 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.0 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.1 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.2 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.3 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.8 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.8 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.9 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref ICD10:A36.9 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref MESH:D004165 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref MedDRA:10013023 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref UMLS:C0012546 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.1 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.2 semapv:UnspecifiedMatching +Orphanet:1679 Diphtheria oboInOwl:hasDbXref icd11:1C17.3 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref ICD10:L65.1 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref ICD10:L65.1 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref MESH:D058247 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref MedDRA:10085066 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref OMIM:600628 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref UMLS:C0406468 semapv:UnspecifiedMatching +Orphanet:168 Loose anagen syndrome oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching +Orphanet:1681 Diprosopus oboInOwl:hasDbXref ICD10:Q89.4 semapv:UnspecifiedMatching +Orphanet:1681 Diprosopus oboInOwl:hasDbXref UMLS:C0266731 semapv:UnspecifiedMatching +Orphanet:168194 Rare cardiac tumor oboInOwl:hasDbXref UMLS:C5680461 semapv:UnspecifiedMatching +Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref OMIM:600459 semapv:UnspecifiedMatching +Orphanet:1682 Arterial dissection-lentiginosis syndrome oboInOwl:hasDbXref UMLS:C4304024 semapv:UnspecifiedMatching +Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref OMIM:126320 semapv:UnspecifiedMatching +Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref UMLS:C1852062 semapv:UnspecifiedMatching +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref MESH:C535783 semapv:UnspecifiedMatching +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:183849 semapv:UnspecifiedMatching +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1866728 semapv:UnspecifiedMatching +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref OMIM:601668 semapv:UnspecifiedMatching +Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref UMLS:C4750771 semapv:UnspecifiedMatching +Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref MESH:C535785 semapv:UnspecifiedMatching +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref OMIM:610442 semapv:UnspecifiedMatching +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref UMLS:C1864872 semapv:UnspecifiedMatching +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256731 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610951 semapv:UnspecifiedMatching +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022340 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.2 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.3 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.4 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.5 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.8 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.8 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref UMLS:C0040820 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref icd11:1F80 semapv:UnspecifiedMatching +Orphanet:1685 Distomatosis oboInOwl:hasDbXref icd11:1F83 semapv:UnspecifiedMatching +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref OMIM:313420 semapv:UnspecifiedMatching +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref UMLS:C0796172 semapv:UnspecifiedMatching +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 semapv:UnspecifiedMatching +Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:602271 semapv:UnspecifiedMatching +Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1865695 semapv:UnspecifiedMatching +Orphanet:168549 Axial spondylometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref MESH:C535791 semapv:UnspecifiedMatching +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:607543 semapv:UnspecifiedMatching +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5190708 semapv:UnspecifiedMatching +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref MESH:C563803 semapv:UnspecifiedMatching +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref OMIM:609052 semapv:UnspecifiedMatching +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref UMLS:C1836862 semapv:UnspecifiedMatching +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref OMIM:613743 semapv:UnspecifiedMatching +Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency oboInOwl:hasDbXref UMLS:C5190811 semapv:UnspecifiedMatching +Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:607080 semapv:UnspecifiedMatching +Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome oboInOwl:hasDbXref UMLS:C5190810 semapv:UnspecifiedMatching +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref OMIM:610505 semapv:UnspecifiedMatching +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 oboInOwl:hasDbXref UMLS:C5679582 semapv:UnspecifiedMatching +Orphanet:168569 H syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:168569 H syndrome oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching +Orphanet:168569 H syndrome oboInOwl:hasDbXref UMLS:C1864445 semapv:UnspecifiedMatching +Orphanet:168572 Native American myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:168572 Native American myopathy oboInOwl:hasDbXref MESH:C538343 semapv:UnspecifiedMatching +Orphanet:168572 Native American myopathy oboInOwl:hasDbXref OMIM:255995 semapv:UnspecifiedMatching +Orphanet:168572 Native American myopathy oboInOwl:hasDbXref UMLS:C1850625 semapv:UnspecifiedMatching +Orphanet:168572 Native American myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref OMIM:608885 semapv:UnspecifiedMatching +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin oboInOwl:hasDbXref UMLS:C5190707 semapv:UnspecifiedMatching +Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching +Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching +Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref MESH:C565737 semapv:UnspecifiedMatching +Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref OMIM:604901 semapv:UnspecifiedMatching +Orphanet:168583 Hereditary North American Indian childhood cirrhosis oboInOwl:hasDbXref UMLS:C1858051 semapv:UnspecifiedMatching +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref OMIM:604931 semapv:UnspecifiedMatching +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref OMIM:614662 semapv:UnspecifiedMatching +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref UMLS:C4329210 semapv:UnspecifiedMatching +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency oboInOwl:hasDbXref icd11:5A71.Y semapv:UnspecifiedMatching +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref MESH:C563856 semapv:UnspecifiedMatching +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref OMIM:608800 semapv:UnspecifiedMatching +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome oboInOwl:hasDbXref UMLS:C1837371 semapv:UnspecifiedMatching +Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref OMIM:250850 semapv:UnspecifiedMatching +Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref UMLS:C0268621 semapv:UnspecifiedMatching +Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref UMLS:C0546315 semapv:UnspecifiedMatching +Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedMatching +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref MESH:C562649 semapv:UnspecifiedMatching +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref OMIM:226200 semapv:UnspecifiedMatching +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref UMLS:C0268416 semapv:UnspecifiedMatching +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref ICD10:L21.8 semapv:UnspecifiedMatching +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref MESH:C565217 semapv:UnspecifiedMatching +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref OMIM:610227 semapv:UnspecifiedMatching +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref UMLS:C1853258 semapv:UnspecifiedMatching +Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching +Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref OMIM:615969 semapv:UnspecifiedMatching +Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref UMLS:C4274336 semapv:UnspecifiedMatching +Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching +Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref OMIM:615970 semapv:UnspecifiedMatching +Orphanet:168615 Hereditary persistence of alpha-fetoprotein oboInOwl:hasDbXref UMLS:C1863080 semapv:UnspecifiedMatching +Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:168621 Dysplasia of head of femur, Meyer type oboInOwl:hasDbXref UMLS:C4274970 semapv:UnspecifiedMatching +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref OMIM:609579 semapv:UnspecifiedMatching +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type oboInOwl:hasDbXref UMLS:C4510730 semapv:UnspecifiedMatching +Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching +Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching +Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching +Orphanet:168629 Autosomal thrombocytopenia with normal platelets oboInOwl:hasDbXref UMLS:C5680462 semapv:UnspecifiedMatching +Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref OMIM:605827 semapv:UnspecifiedMatching +Orphanet:168632 Generalized basaloid follicular hamartoma syndrome oboInOwl:hasDbXref UMLS:C4707879 semapv:UnspecifiedMatching +Orphanet:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MESH:D002659 semapv:UnspecifiedMatching +Orphanet:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref MedDRA:10061345 semapv:UnspecifiedMatching +Orphanet:168778 Rare pervasive developmental disorder oboInOwl:hasDbXref UMLS:C5679581 semapv:UnspecifiedMatching +Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref ICD10:F84.3 semapv:UnspecifiedMatching +Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref MedDRA:10008522 semapv:UnspecifiedMatching +Orphanet:168782 Childhood disintegrative disorder oboInOwl:hasDbXref UMLS:C0236791 semapv:UnspecifiedMatching +Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref MESH:C535852 semapv:UnspecifiedMatching +Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref OMIM:610140 semapv:UnspecifiedMatching +Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref UMLS:C1857829 semapv:UnspecifiedMatching +Orphanet:168796 Heart-hand syndrome, Slovenian type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:168803 Primary peritoneal tumor oboInOwl:hasDbXref UMLS:C5680455 semapv:UnspecifiedMatching +Orphanet:168807 Primary malignant peritoneal tumor oboInOwl:hasDbXref UMLS:C5680454 semapv:UnspecifiedMatching +Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching +Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref MedDRA:10056558 semapv:UnspecifiedMatching +Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0346109 semapv:UnspecifiedMatching +Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref icd11:2C51.2 semapv:UnspecifiedMatching +Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching +Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref UMLS:C1334818 semapv:UnspecifiedMatching +Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching +Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching +Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref UMLS:C0334361 semapv:UnspecifiedMatching +Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref MedDRA:10065854 semapv:UnspecifiedMatching +Orphanet:168940 Chronic eosinophilic leukemia oboInOwl:hasDbXref UMLS:C0346421 semapv:UnspecifiedMatching +Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oboInOwl:hasDbXref UMLS:C5680457 semapv:UnspecifiedMatching +Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref UMLS:C4545381 semapv:UnspecifiedMatching +Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref UMLS:C5680456 semapv:UnspecifiedMatching +Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref icd11:2A51 semapv:UnspecifiedMatching +Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref OMIM:613523 semapv:UnspecifiedMatching +Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref UMLS:C3150773 semapv:UnspecifiedMatching +Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref icd11:2A52 semapv:UnspecifiedMatching +Orphanet:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref MESH:D017681 semapv:UnspecifiedMatching +Orphanet:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref MedDRA:10048643 semapv:UnspecifiedMatching +Orphanet:168956 Hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C1540912 semapv:UnspecifiedMatching +Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref MedDRA:10038271 semapv:UnspecifiedMatching +Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref UMLS:C0280028 semapv:UnspecifiedMatching +Orphanet:168960 Refractory anemia with excess blasts in transformation oboInOwl:hasDbXref icd11:2A34 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MESH:D058617 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MedDRA:10073957 semapv:UnspecifiedMatching +Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref UMLS:C0545080 semapv:UnspecifiedMatching +Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref OMIM:612713 semapv:UnspecifiedMatching +Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref UMLS:C2675185 semapv:UnspecifiedMatching +Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref MESH:C567763 semapv:UnspecifiedMatching +Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref OMIM:613089 semapv:UnspecifiedMatching +Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref UMLS:C2751313 semapv:UnspecifiedMatching +Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching +Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching +Orphanet:168999 Malignant melanoma of the mucosa oboInOwl:hasDbXref UMLS:C5191057 semapv:UnspecifiedMatching +Orphanet:169 Ringed hair disease oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:169 Ringed hair disease oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:169 Ringed hair disease oboInOwl:hasDbXref MESH:C537187 semapv:UnspecifiedMatching +Orphanet:169 Ringed hair disease oboInOwl:hasDbXref OMIM:180600 semapv:UnspecifiedMatching +Orphanet:169 Ringed hair disease oboInOwl:hasDbXref UMLS:C0263489 semapv:UnspecifiedMatching +Orphanet:169 Ringed hair disease oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching +Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref OMIM:611291 semapv:UnspecifiedMatching +Orphanet:169079 Cernunnos-XLF deficiency oboInOwl:hasDbXref UMLS:C4303792 semapv:UnspecifiedMatching +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref OMIM:615607 semapv:UnspecifiedMatching +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency oboInOwl:hasDbXref UMLS:C4510864 semapv:UnspecifiedMatching +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref MESH:C563824 semapv:UnspecifiedMatching +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref OMIM:608957 semapv:UnspecifiedMatching +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation oboInOwl:hasDbXref UMLS:C1837065 semapv:UnspecifiedMatching +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction oboInOwl:hasDbXref UMLS:C4303571 semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref MESH:C536781 semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:618806 semapv:UnspecifiedMatching +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref UMLS:C1866426 semapv:UnspecifiedMatching +Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref OMIM:606367 semapv:UnspecifiedMatching +Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref UMLS:C4755277 semapv:UnspecifiedMatching +Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching +Orphanet:169105 Good syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:169105 Good syndrome oboInOwl:hasDbXref MedDRA:10079838 semapv:UnspecifiedMatching +Orphanet:169105 Good syndrome oboInOwl:hasDbXref UMLS:C0221027 semapv:UnspecifiedMatching +Orphanet:169105 Good syndrome oboInOwl:hasDbXref icd11:4B40.2 semapv:UnspecifiedMatching +Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:169110 Immunoglobulin heavy chain deficiency oboInOwl:hasDbXref UMLS:C0398692 semapv:UnspecifiedMatching +Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10:D80.7 semapv:UnspecifiedMatching +Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref MedDRA:10044388 semapv:UnspecifiedMatching +Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS:C0272238 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:245480 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:617475 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref UMLS:C5546032 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:216950 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:217000 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613652 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:613783 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:614379 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:614380 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref UMLS:C0398750 semapv:UnspecifiedMatching +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref icd11:4A00.10 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:610102 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:612446 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613789 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613790 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref OMIM:613825 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref UMLS:C0398765 semapv:UnspecifiedMatching +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency oboInOwl:hasDbXref icd11:4A00.11 semapv:UnspecifiedMatching +Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref OMIM:608971 semapv:UnspecifiedMatching +Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref UMLS:C5679577 semapv:UnspecifiedMatching +Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref OMIM:608971 semapv:UnspecifiedMatching +Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref UMLS:C5679579 semapv:UnspecifiedMatching +Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:610163 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:615615 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref OMIM:615617 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref UMLS:C5679578 semapv:UnspecifiedMatching +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:169163 Familial scaphocephaly syndrome oboInOwl:hasDbXref MedDRA:10072229 semapv:UnspecifiedMatching +Orphanet:169163 Familial scaphocephaly syndrome oboInOwl:hasDbXref UMLS:C3267076 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref MESH:C562934 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref OMIM:615959 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410204 semapv:UnspecifiedMatching +Orphanet:169186 Autosomal recessive centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching +Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref OMIM:160150 semapv:UnspecifiedMatching +Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS:C1834558 semapv:UnspecifiedMatching +Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching +Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref UMLS:C5394675 semapv:UnspecifiedMatching +Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies oboInOwl:hasDbXref UMLS:C5680459 semapv:UnspecifiedMatching +Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching +Orphanet:169349 Immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0432218 semapv:UnspecifiedMatching +Orphanet:169349 Immuno-osseous dysplasia oboInOwl:hasDbXref icd11:4A01.32 semapv:UnspecifiedMatching +Orphanet:169355 Immunodeficiency syndrome with autoimmunity oboInOwl:hasDbXref UMLS:C5680460 semapv:UnspecifiedMatching +Orphanet:169355 Immunodeficiency syndrome with autoimmunity oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching +Orphanet:169361 Immune dysregulation disease with immunodeficiency oboInOwl:hasDbXref UMLS:C5680458 semapv:UnspecifiedMatching +Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells oboInOwl:hasDbXref UMLS:C5680449 semapv:UnspecifiedMatching +Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref OMIM:612300 semapv:UnspecifiedMatching +Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref UMLS:C4755276 semapv:UnspecifiedMatching +Orphanet:169464 Primary CD59 deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref OMIM:613912 semapv:UnspecifiedMatching +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref UMLS:C5190780 semapv:UnspecifiedMatching +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching +Orphanet:1695 Non-distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1695 Non-distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1695 Non-distal duplication 10q oboInOwl:hasDbXref UMLS:C4749376 semapv:UnspecifiedMatching +Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching +Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref UMLS:C5679576 semapv:UnspecifiedMatching +Orphanet:169793 Severe hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching +Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching +Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref UMLS:C5679575 semapv:UnspecifiedMatching +Orphanet:169796 Moderate hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching +Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching +Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref UMLS:C5679574 semapv:UnspecifiedMatching +Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching +Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref UMLS:C4706889 semapv:UnspecifiedMatching +Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref UMLS:C0272322 semapv:UnspecifiedMatching +Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching +Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching +Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref UMLS:C0272324 semapv:UnspecifiedMatching +Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching +Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency oboInOwl:hasDbXref UMLS:C5680448 semapv:UnspecifiedMatching +Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref MESH:C538299 semapv:UnspecifiedMatching +Orphanet:1699 Trisomy 12p oboInOwl:hasDbXref UMLS:C0795845 semapv:UnspecifiedMatching +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref OMIM:245400 semapv:UnspecifiedMatching +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref UMLS:C4275183 semapv:UnspecifiedMatching +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref MESH:C536745 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref MedDRA:10048017 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:194300 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:278150 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:604379 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:615896 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref OMIM:616760 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref UMLS:C0343073 semapv:UnspecifiedMatching +Orphanet:170 Woolly hair oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching +Orphanet:1702 Non-distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1702 Non-distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1702 Non-distal duplication 13q oboInOwl:hasDbXref UMLS:C4707260 semapv:UnspecifiedMatching +Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref MESH:C535489 semapv:UnspecifiedMatching +Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref UMLS:C2930917 semapv:UnspecifiedMatching +Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref MESH:C538034 semapv:UnspecifiedMatching +Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref UMLS:C2931702 semapv:UnspecifiedMatching +Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref MESH:C538037 semapv:UnspecifiedMatching +Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref UMLS:C2931707 semapv:UnspecifiedMatching +Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref MESH:C538036 semapv:UnspecifiedMatching +Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref UMLS:C2931705 semapv:UnspecifiedMatching +Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref UMLS:C4707009 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10036732 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:602114 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0566602 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref icd11:DB96.2 semapv:UnspecifiedMatching +Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref UMLS:C1096168 semapv:UnspecifiedMatching +Orphanet:171220 Rectal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:171220 Rectal duplication oboInOwl:hasDbXref UMLS:C4511483 semapv:UnspecifiedMatching +Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref MESH:C538355 semapv:UnspecifiedMatching +Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:610883 semapv:UnspecifiedMatching +Orphanet:1713 17p11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C2931246 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615348 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching +Orphanet:171430 Severe congenital nemaline myopathy oboInOwl:hasDbXref UMLS:C5680451 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching +Orphanet:171433 Intermediate nemaline myopathy oboInOwl:hasDbXref UMLS:C5680452 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:610687 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching +Orphanet:171436 Typical nemaline myopathy oboInOwl:hasDbXref UMLS:C5680453 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609273 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref OMIM:617336 semapv:UnspecifiedMatching +Orphanet:171439 Childhood-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546125 semapv:UnspecifiedMatching +Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171442 Adult-onset nemaline myopathy oboInOwl:hasDbXref UMLS:C0546123 semapv:UnspecifiedMatching +Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref OMIM:609524 semapv:UnspecifiedMatching +Orphanet:171445 Muscle filaminopathy oboInOwl:hasDbXref UMLS:C4707258 semapv:UnspecifiedMatching +Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref MESH:C538307 semapv:UnspecifiedMatching +Orphanet:1715 Trisomy 18p oboInOwl:hasDbXref UMLS:C2931811 semapv:UnspecifiedMatching +Orphanet:1716 Distal duplication 18q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1716 Distal duplication 18q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1716 Distal duplication 18q oboInOwl:hasDbXref UMLS:C5190516 semapv:UnspecifiedMatching +Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref MESH:C567465 semapv:UnspecifiedMatching +Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref OMIM:300750 semapv:UnspecifiedMatching +Orphanet:171607 X-linked spastic paraplegia type 34 oboInOwl:hasDbXref UMLS:C2677897 semapv:UnspecifiedMatching +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref MESH:C567931 semapv:UnspecifiedMatching +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref OMIM:611945 semapv:UnspecifiedMatching +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 oboInOwl:hasDbXref UMLS:C2936880 semapv:UnspecifiedMatching +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref MESH:C567349 semapv:UnspecifiedMatching +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref OMIM:612335 semapv:UnspecifiedMatching +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 oboInOwl:hasDbXref UMLS:C2676732 semapv:UnspecifiedMatching +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref MESH:C566983 semapv:UnspecifiedMatching +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref OMIM:611252 semapv:UnspecifiedMatching +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 oboInOwl:hasDbXref UMLS:C1970009 semapv:UnspecifiedMatching +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref MESH:C567311 semapv:UnspecifiedMatching +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 oboInOwl:hasDbXref UMLS:C3496228 semapv:UnspecifiedMatching +Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching +Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref MESH:D000092423 semapv:UnspecifiedMatching +Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref MedDRA:10072138 semapv:UnspecifiedMatching +Orphanet:171673 Limbal stem cell deficiency oboInOwl:hasDbXref UMLS:C1561989 semapv:UnspecifiedMatching +Orphanet:171676 NON RARE IN EUROPE: Periventricular leukomalacia oboInOwl:hasDbXref ICD10:P91.2 semapv:UnspecifiedMatching +Orphanet:171676 NON RARE IN EUROPE: Periventricular leukomalacia oboInOwl:hasDbXref ICD10:P91.2 semapv:UnspecifiedMatching +Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref OMIM:611603 semapv:UnspecifiedMatching +Orphanet:171680 Lissencephaly due to TUBA1A mutation oboInOwl:hasDbXref UMLS:C5680517 semapv:UnspecifiedMatching +Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching +Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching +Orphanet:171684 Idiopathic bilateral vestibulopathy oboInOwl:hasDbXref UMLS:C4545229 semapv:UnspecifiedMatching +Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref MESH:C565449 semapv:UnspecifiedMatching +Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref OMIM:245340 semapv:UnspecifiedMatching +Orphanet:171690 Metabolic myopathy due to lactate transporter defect oboInOwl:hasDbXref UMLS:C1855577 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref MESH:C538104 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168100 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref OMIM:260300 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref UMLS:C1850100 semapv:UnspecifiedMatching +Orphanet:171695 Parkinsonian-pyramidal syndrome oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching +Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref UMLS:C4707664 semapv:UnspecifiedMatching +Orphanet:1717 Distal duplication 19q oboInOwl:hasDbXref icd11:LD41.J0 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MESH:C536174 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref MedDRA:10062952 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref OMIM:604809 semapv:UnspecifiedMatching +Orphanet:171700 Diffuse panbronchiolitis oboInOwl:hasDbXref UMLS:C0878555 semapv:UnspecifiedMatching +Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome oboInOwl:hasDbXref UMLS:C4750772 semapv:UnspecifiedMatching +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:609698 semapv:UnspecifiedMatching +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:619855 semapv:UnspecifiedMatching +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref OMIM:620198 semapv:UnspecifiedMatching +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency oboInOwl:hasDbXref UMLS:C4706661 semapv:UnspecifiedMatching +Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref OMIM:102530 semapv:UnspecifiedMatching +Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching +Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref UMLS:C5679591 semapv:UnspecifiedMatching +Orphanet:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref UMLS:C1836824 semapv:UnspecifiedMatching +Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref MESH:C563639 semapv:UnspecifiedMatching +Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref OMIM:614100 semapv:UnspecifiedMatching +Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref UMLS:C0432335 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref MESH:D053529 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref OMIM:193900 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref OMIM:615785 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref UMLS:C1721005 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref icd11:DA02.0 semapv:UnspecifiedMatching +Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5438727 semapv:UnspecifiedMatching +Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref icd11:LD29 semapv:UnspecifiedMatching +Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching +Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref UMLS:C3267187 semapv:UnspecifiedMatching +Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref OMIM:612445 semapv:UnspecifiedMatching +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome oboInOwl:hasDbXref UMLS:C4303548 semapv:UnspecifiedMatching +Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching +Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref OMIM:612674 semapv:UnspecifiedMatching +Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome oboInOwl:hasDbXref UMLS:C4509920 semapv:UnspecifiedMatching +Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 semapv:UnspecifiedMatching +Orphanet:171851 MEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836330 semapv:UnspecifiedMatching +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref MESH:C567262 semapv:UnspecifiedMatching +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref OMIM:612539 semapv:UnspecifiedMatching +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 oboInOwl:hasDbXref UMLS:C2675528 semapv:UnspecifiedMatching +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref MESH:C567558 semapv:UnspecifiedMatching +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref OMIM:612813 semapv:UnspecifiedMatching +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref UMLS:C2748544 semapv:UnspecifiedMatching +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching +Orphanet:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449842 semapv:UnspecifiedMatching +Orphanet:171871 Renal pseudohypoaldosteronism type 1 oboInOwl:hasDbXref icd11:GB90.41 semapv:UnspecifiedMatching +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 semapv:UnspecifiedMatching +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449843 semapv:UnspecifiedMatching +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 oboInOwl:hasDbXref icd11:GB90.41 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref MESH:C579969 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref UMLS:C3710589 semapv:UnspecifiedMatching +Orphanet:171881 Cap myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref UMLS:C4706943 semapv:UnspecifiedMatching +Orphanet:171886 Cylindrical spirals myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref UMLS:C4707259 semapv:UnspecifiedMatching +Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:171895 Myeloid hemopathy oboInOwl:hasDbXref UMLS:C5680514 semapv:UnspecifiedMatching +Orphanet:171898 Lymphoid hemopathy oboInOwl:hasDbXref UMLS:C5680515 semapv:UnspecifiedMatching +Orphanet:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref MESH:D016410 semapv:UnspecifiedMatching +Orphanet:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref MedDRA:10011677 semapv:UnspecifiedMatching +Orphanet:171901 Primary cutaneous T-cell lymphoma oboInOwl:hasDbXref UMLS:C0079773 semapv:UnspecifiedMatching +Orphanet:171918 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref MedDRA:10042971 semapv:UnspecifiedMatching +Orphanet:171918 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0079772 semapv:UnspecifiedMatching +Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref UMLS:C4082793 semapv:UnspecifiedMatching +Orphanet:171929 Trisomy 10p oboInOwl:hasDbXref icd11:LD41.91 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref MedDRA:10076033 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619484 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619662 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619849 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619868 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:620010 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0268312 semapv:UnspecifiedMatching +Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching +Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref UMLS:C4707010 semapv:UnspecifiedMatching +Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref MESH:C535372 semapv:UnspecifiedMatching +Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref UMLS:C0265479 semapv:UnspecifiedMatching +Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref MESH:C567224 semapv:UnspecifiedMatching +Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref OMIM:608363 semapv:UnspecifiedMatching +Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref UMLS:C2675369 semapv:UnspecifiedMatching +Orphanet:172976 Congenital myopathy with cores oboInOwl:hasDbXref UMLS:C5680516 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.0 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.1 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.9 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref ICD10:A00.9 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref MESH:D002771 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref MedDRA:10008631 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref UMLS:C0008354 semapv:UnspecifiedMatching +Orphanet:173 Cholera oboInOwl:hasDbXref icd11:1A00 semapv:UnspecifiedMatching +Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref MESH:C537643 semapv:UnspecifiedMatching +Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref MedDRA:10080079 semapv:UnspecifiedMatching +Orphanet:1738 Trisomy 4p oboInOwl:hasDbXref UMLS:C0265405 semapv:UnspecifiedMatching +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref MESH:C537352 semapv:UnspecifiedMatching +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref OMIM:156500 semapv:UnspecifiedMatching +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type oboInOwl:hasDbXref UMLS:C0265289 semapv:UnspecifiedMatching +Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1742 Trisomy 5p oboInOwl:hasDbXref UMLS:C0812464 semapv:UnspecifiedMatching +Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:1745 Distal duplication 6p oboInOwl:hasDbXref UMLS:C4302551 semapv:UnspecifiedMatching +Orphanet:174590 Congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref MedDRA:10083932 semapv:UnspecifiedMatching +Orphanet:174590 Congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C3899503 semapv:UnspecifiedMatching +Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref MESH:C537822 semapv:UnspecifiedMatching +Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref UMLS:C2931631 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MedDRA:10069596 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250250 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250460 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS:C0220748 semapv:UnspecifiedMatching +Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref MESH:C538020 semapv:UnspecifiedMatching +Orphanet:1752 Trisomy 8q oboInOwl:hasDbXref UMLS:C0795829 semapv:UnspecifiedMatching +Orphanet:1756 Caudal duplication oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1756 Caudal duplication oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1756 Caudal duplication oboInOwl:hasDbXref OMIM:607864 semapv:UnspecifiedMatching +Orphanet:1756 Caudal duplication oboInOwl:hasDbXref UMLS:C0266688 semapv:UnspecifiedMatching +Orphanet:1756 Caudal duplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1757 Fibular dimelia-diplopodia syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1757 Fibular dimelia-diplopodia syndrome oboInOwl:hasDbXref UMLS:C4303758 semapv:UnspecifiedMatching +Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref UMLS:C4518084 semapv:UnspecifiedMatching +Orphanet:1759 Thoraco-abdominal enteric duplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:176 Non-rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C5681009 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref MESH:C537723 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref OMIM:300260 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref OMIM:300815 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref UMLS:C1846058 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref ICD10:G90.1 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref ICD10:G90.1 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref MESH:D004402 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref MedDRA:10039179 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref UMLS:C0013364 semapv:UnspecifiedMatching +Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref icd11:8C21.1 semapv:UnspecifiedMatching +Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref OMIM:127350 semapv:UnspecifiedMatching +Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref UMLS:C4302549 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MESH:C535731 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MedDRA:10013140 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:224050 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:610185 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:613227 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref OMIM:615268 semapv:UnspecifiedMatching +Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref UMLS:C0394006 semapv:UnspecifiedMatching +Orphanet:1767 Familial progressive vestibulocochlear dysfunction oboInOwl:hasDbXref OMIM:193005 semapv:UnspecifiedMatching +Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref MESH:C535879 semapv:UnspecifiedMatching +Orphanet:1768 Familial caudal dysgenesis oboInOwl:hasDbXref UMLS:C2931053 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching +Orphanet:177 Rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282529 semapv:UnspecifiedMatching +Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref MESH:C565536 semapv:UnspecifiedMatching +Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref OMIM:233430 semapv:UnspecifiedMatching +Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome oboInOwl:hasDbXref UMLS:C1856272 semapv:UnspecifiedMatching +Orphanet:177101 Rare adult hypothyroidism oboInOwl:hasDbXref UMLS:C5680511 semapv:UnspecifiedMatching +Orphanet:177107 Syndromic hypothyroidism oboInOwl:hasDbXref UMLS:C5680512 semapv:UnspecifiedMatching +Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q98.7 semapv:UnspecifiedMatching +Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref MESH:D006060 semapv:UnspecifiedMatching +Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0018055 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref MedDRA:10062759 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:127550 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:224230 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:305000 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613987 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613988 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613989 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:613990 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:615190 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:616353 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:620040 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref OMIM:620133 semapv:UnspecifiedMatching +Orphanet:1775 Dyskeratosis congenita oboInOwl:hasDbXref UMLS:C0265965 semapv:UnspecifiedMatching +Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref MESH:C536959 semapv:UnspecifiedMatching +Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref OMIM:218340 semapv:UnspecifiedMatching +Orphanet:1777 Temtamy syndrome oboInOwl:hasDbXref UMLS:C1857512 semapv:UnspecifiedMatching +Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome oboInOwl:hasDbXref MESH:C537529 semapv:UnspecifiedMatching +Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome oboInOwl:hasDbXref UMLS:C2931522 semapv:UnspecifiedMatching +Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome oboInOwl:hasDbXref UMLS:C4706366 semapv:UnspecifiedMatching +Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching +Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 oboInOwl:hasDbXref UMLS:C5680507 semapv:UnspecifiedMatching +Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching +Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 oboInOwl:hasDbXref UMLS:C5680508 semapv:UnspecifiedMatching +Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching +Orphanet:177907 Prader-Willi syndrome due to translocation oboInOwl:hasDbXref UMLS:C5680509 semapv:UnspecifiedMatching +Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching +Orphanet:177910 Prader-Willi syndrome due to imprinting mutation oboInOwl:hasDbXref UMLS:C5680510 semapv:UnspecifiedMatching +Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref UMLS:C5680504 semapv:UnspecifiedMatching +Orphanet:177926 Bleeding disorder in hemophilia A carriers oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching +Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching +Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref UMLS:C5680505 semapv:UnspecifiedMatching +Orphanet:177929 Bleeding disorder in hemophilia B carriers oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref ICD10:C76.7 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref ICD10:C76.7 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref MESH:D002817 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref MedDRA:10008747 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref OMIM:215400 semapv:UnspecifiedMatching +Orphanet:178 Chordoma oboInOwl:hasDbXref UMLS:C0008487 semapv:UnspecifiedMatching +Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref MESH:C536503 semapv:UnspecifiedMatching +Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref OMIM:227255 semapv:UnspecifiedMatching +Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref UMLS:C2931219 semapv:UnspecifiedMatching +Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations oboInOwl:hasDbXref UMLS:C5680506 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref MedDRA:10068587 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching +Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching +Orphanet:178040 Rare peripheral precocious puberty oboInOwl:hasDbXref UMLS:C5680513 semapv:UnspecifiedMatching +Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref MESH:C566147 semapv:UnspecifiedMatching +Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching +Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref UMLS:C1861753 semapv:UnspecifiedMatching +Orphanet:178145 Moderate multiminicore disease with hand involvement oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref MESH:C537474 semapv:UnspecifiedMatching +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C1843691 semapv:UnspecifiedMatching +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:1782 Dysosteosclerosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1782 Dysosteosclerosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1782 Dysosteosclerosis oboInOwl:hasDbXref MESH:C562973 semapv:UnspecifiedMatching +Orphanet:1782 Dysosteosclerosis oboInOwl:hasDbXref OMIM:224300 semapv:UnspecifiedMatching +Orphanet:1782 Dysosteosclerosis oboInOwl:hasDbXref UMLS:C0432262 semapv:UnspecifiedMatching +Orphanet:1782 Dysosteosclerosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref MESH:C536110 semapv:UnspecifiedMatching +Orphanet:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:608156 semapv:UnspecifiedMatching +Orphanet:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1842464 semapv:UnspecifiedMatching +Orphanet:178303 8q22.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.80 semapv:UnspecifiedMatching +Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref OMIM:615537 semapv:UnspecifiedMatching +Orphanet:178307 Reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching +Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:178311 Isolated sternocostoclavicular hyperostosis oboInOwl:hasDbXref UMLS:C4707796 semapv:UnspecifiedMatching +Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref UMLS:C2205345 semapv:UnspecifiedMatching +Orphanet:178315 Undifferentiated embryonal sarcoma of the liver oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching +Orphanet:178320 Acute lung injury oboInOwl:hasDbXref ICD10:S27.3 semapv:UnspecifiedMatching +Orphanet:178320 Acute lung injury oboInOwl:hasDbXref ICD10:S27.3 semapv:UnspecifiedMatching +Orphanet:178320 Acute lung injury oboInOwl:hasDbXref MESH:D055371 semapv:UnspecifiedMatching +Orphanet:178320 Acute lung injury oboInOwl:hasDbXref MedDRA:10069351 semapv:UnspecifiedMatching +Orphanet:178320 Acute lung injury oboInOwl:hasDbXref UMLS:C0242488 semapv:UnspecifiedMatching +Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref MESH:C562664 semapv:UnspecifiedMatching +Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref OMIM:300600 semapv:UnspecifiedMatching +Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref UMLS:C0268505 semapv:UnspecifiedMatching +Orphanet:178333 Åland Islands eye disease oboInOwl:hasDbXref icd11:9B7Y semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref ICD10:L56.8 semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref MESH:C563466 semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:600630 semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614621 semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614640 semapv:UnspecifiedMatching +Orphanet:178338 UV-sensitive syndrome oboInOwl:hasDbXref UMLS:C1833561 semapv:UnspecifiedMatching +Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref MedDRA:10067917 semapv:UnspecifiedMatching +Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref UMLS:C0334121 semapv:UnspecifiedMatching +Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref icd11:2E92.1 semapv:UnspecifiedMatching +Orphanet:178342 Inflammatory myofibroblastic tumor oboInOwl:hasDbXref icd11:2F30.Y semapv:UnspecifiedMatching +Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching +Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref MESH:C000591739 semapv:UnspecifiedMatching +Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref OMIM:139300 semapv:UnspecifiedMatching +Orphanet:178345 Aromatase excess syndrome oboInOwl:hasDbXref UMLS:C1970109 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref MESH:C564589 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:607326 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref OMIM:615222 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS:C1846431 semapv:UnspecifiedMatching +Orphanet:178355 Smith-McCort dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref MESH:C566441 semapv:UnspecifiedMatching +Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching +Orphanet:178364 Syndromic microphthalmia type 5 oboInOwl:hasDbXref UMLS:C1864690 semapv:UnspecifiedMatching +Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C4302818 semapv:UnspecifiedMatching +Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref MedDRA:10066242 semapv:UnspecifiedMatching +Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching +Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref UMLS:C0240912 semapv:UnspecifiedMatching +Orphanet:178382 Congenital vertical talus oboInOwl:hasDbXref icd11:LB98.4 semapv:UnspecifiedMatching +Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref OMIM:612301 semapv:UnspecifiedMatching +Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref UMLS:C4751205 semapv:UnspecifiedMatching +Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation oboInOwl:hasDbXref UMLS:C5190706 semapv:UnspecifiedMatching +Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref MESH:C538186 semapv:UnspecifiedMatching +Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:201180 semapv:UnspecifiedMatching +Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref UMLS:C1860118 semapv:UnspecifiedMatching +Orphanet:1784 Acrofrontofacionasal dysostosis oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref MESH:C564664 semapv:UnspecifiedMatching +Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 semapv:UnspecifiedMatching +Orphanet:178400 Distal myopathy with anterior tibial onset oboInOwl:hasDbXref UMLS:C1847532 semapv:UnspecifiedMatching +Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching +Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref UMLS:C2678055 semapv:UnspecifiedMatching +Orphanet:178461 X-linked myopathy with postural muscle atrophy oboInOwl:hasDbXref icd11:8C70.Y semapv:UnspecifiedMatching +Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref MESH:C566343 semapv:UnspecifiedMatching +Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching +Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref UMLS:C1863599 semapv:UnspecifiedMatching +Orphanet:178464 Hereditary myopathy with early respiratory failure oboInOwl:hasDbXref icd11:8C70.Y semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612580 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612581 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612621 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614113 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614254 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614255 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614256 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614257 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614563 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615828 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616083 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616393 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616579 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616977 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617796 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617798 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617799 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617854 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618095 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618106 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618330 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:619188 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:620114 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:620157 semapv:UnspecifiedMatching +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5680502 semapv:UnspecifiedMatching +Orphanet:178475 Wound botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:178475 Wound botulism oboInOwl:hasDbXref UMLS:C1306794 semapv:UnspecifiedMatching +Orphanet:178478 Infant botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:178478 Infant botulism oboInOwl:hasDbXref UMLS:C0238027 semapv:UnspecifiedMatching +Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref UMLS:C1443901 semapv:UnspecifiedMatching +Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref UMLS:C4289991 semapv:UnspecifiedMatching +Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref UMLS:C0730271 semapv:UnspecifiedMatching +Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching +Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref UMLS:C2751630 semapv:UnspecifiedMatching +Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref OMIM:613658 semapv:UnspecifiedMatching +Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref OMIM:619013 semapv:UnspecifiedMatching +Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref UMLS:C3150910 semapv:UnspecifiedMatching +Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref icd11:LD20.4 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref MESH:C566822 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref MedDRA:10079207 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref OMIM:168605 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref UMLS:C1868594 semapv:UnspecifiedMatching +Orphanet:178509 Perry syndrome oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching +Orphanet:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref UMLS:C1627767 semapv:UnspecifiedMatching +Orphanet:178512 Folliculotropic mycosis fungoides oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching +Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref MESH:D056267 semapv:UnspecifiedMatching +Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref UMLS:C1276140 semapv:UnspecifiedMatching +Orphanet:178517 Localized pagetoid reticulosis oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching +Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.8 semapv:UnspecifiedMatching +Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma oboInOwl:hasDbXref UMLS:C5680503 semapv:UnspecifiedMatching +Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching +Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma oboInOwl:hasDbXref UMLS:C4518232 semapv:UnspecifiedMatching +Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching +Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma oboInOwl:hasDbXref UMLS:C1707547 semapv:UnspecifiedMatching +Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref UMLS:C1275321 semapv:UnspecifiedMatching +Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma oboInOwl:hasDbXref icd11:2A85.2 semapv:UnspecifiedMatching +Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching +Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref UMLS:C1333171 semapv:UnspecifiedMatching +Orphanet:178540 Primary cutaneous follicle center lymphoma oboInOwl:hasDbXref icd11:2A80.3 semapv:UnspecifiedMatching +Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref UMLS:C1709656 semapv:UnspecifiedMatching +Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type oboInOwl:hasDbXref icd11:2A81.A semapv:UnspecifiedMatching +Orphanet:178548 Indolent primary cutaneous T-cell lymphoma oboInOwl:hasDbXref UMLS:C5680498 semapv:UnspecifiedMatching +Orphanet:178551 Aggressive primary cutaneous T-cell lymphoma oboInOwl:hasDbXref UMLS:C5680497 semapv:UnspecifiedMatching +Orphanet:178554 Aggressive primary cutaneous B-cell lymphoma oboInOwl:hasDbXref UMLS:C5680500 semapv:UnspecifiedMatching +Orphanet:178557 Indolent primary cutaneous B-cell lymphoma oboInOwl:hasDbXref UMLS:C5680499 semapv:UnspecifiedMatching +Orphanet:178563 Primary cutaneous B-cell lymphoma oboInOwl:hasDbXref MedDRA:10085518 semapv:UnspecifiedMatching +Orphanet:178563 Primary cutaneous B-cell lymphoma oboInOwl:hasDbXref UMLS:C1274310 semapv:UnspecifiedMatching +Orphanet:178566 Mycosis fungoides and variants oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:178566 Mycosis fungoides and variants oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:178566 Mycosis fungoides and variants oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching +Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref MESH:C538182 semapv:UnspecifiedMatching +Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref OMIM:101805 semapv:UnspecifiedMatching +Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref UMLS:C2931762 semapv:UnspecifiedMatching +Orphanet:1786 Acrofacial dysostosis, Catania type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref MESH:C538185 semapv:UnspecifiedMatching +Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref OMIM:601829 semapv:UnspecifiedMatching +Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref UMLS:C1866168 semapv:UnspecifiedMatching +Orphanet:1787 Acrofacial dysostosis, Palagonia type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref MESH:C538183 semapv:UnspecifiedMatching +Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref OMIM:201170 semapv:UnspecifiedMatching +Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref UMLS:C1860119 semapv:UnspecifiedMatching +Orphanet:1788 Acrofacial dysostosis, Rodríguez type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:178996 Acquired neutropenia oboInOwl:hasDbXref UMLS:C4543729 semapv:UnspecifiedMatching +Orphanet:178996 Acquired neutropenia oboInOwl:hasDbXref icd11:4B00.01 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MESH:D000080365 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref MedDRA:10072959 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref OMIM:605808 semapv:UnspecifiedMatching +Orphanet:179 Birdshot chorioretinopathy oboInOwl:hasDbXref UMLS:C1853959 semapv:UnspecifiedMatching +Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref MESH:C537154 semapv:UnspecifiedMatching +Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref OMIM:241310 semapv:UnspecifiedMatching +Orphanet:1790 Hypomandibular faciocranial dysostosis oboInOwl:hasDbXref UMLS:C1855848 semapv:UnspecifiedMatching +Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity oboInOwl:hasDbXref UMLS:C5680501 semapv:UnspecifiedMatching +Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity oboInOwl:hasDbXref icd11:4A01 semapv:UnspecifiedMatching +Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref MESH:C538063 semapv:UnspecifiedMatching +Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref OMIM:229400 semapv:UnspecifiedMatching +Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref UMLS:C2931720 semapv:UnspecifiedMatching +Orphanet:1791 Frontofacionasal dysplasia oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref MESH:C537736 semapv:UnspecifiedMatching +Orphanet:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref UMLS:C1838348 semapv:UnspecifiedMatching +Orphanet:1794 Oculomaxillofacial dysostosis oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:179490 Obesity due to congenital leptin resistance oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:179490 Obesity due to congenital leptin resistance oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:179490 Obesity due to congenital leptin resistance oboInOwl:hasDbXref UMLS:C5680486 semapv:UnspecifiedMatching +Orphanet:179490 Obesity due to congenital leptin resistance oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref OMIM:614963 semapv:UnspecifiedMatching +Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref UMLS:C5191640 semapv:UnspecifiedMatching +Orphanet:179494 Obesity due to leptin receptor gene deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching +Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref OMIM:122600 semapv:UnspecifiedMatching +Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref UMLS:C4274761 semapv:UnspecifiedMatching +Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref MESH:C562974 semapv:UnspecifiedMatching +Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref OMIM:122900 semapv:UnspecifiedMatching +Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref UMLS:C0432263 semapv:UnspecifiedMatching +Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref ICD10:F80.1 semapv:UnspecifiedMatching +Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref ICD10:F80.1 semapv:UnspecifiedMatching +Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref MESH:C563997 semapv:UnspecifiedMatching +Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref OMIM:600117 semapv:UnspecifiedMatching +Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref UMLS:C1838630 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref MedDRA:10045224 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:179800 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:267300 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref OMIM:611590 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1704380 semapv:UnspecifiedMatching +Orphanet:18 Distal renal tubular acidosis oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref MESH:D015794 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref MedDRA:10008791 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref OMIM:303100 semapv:UnspecifiedMatching +Orphanet:180 Choroideremia oboInOwl:hasDbXref UMLS:C0008525 semapv:UnspecifiedMatching +Orphanet:180062 Uterovaginal malformation oboInOwl:hasDbXref UMLS:C5680488 semapv:UnspecifiedMatching +Orphanet:180065 Non-syndromic uterovaginal malformation oboInOwl:hasDbXref UMLS:C5680487 semapv:UnspecifiedMatching +Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts oboInOwl:hasDbXref UMLS:C5679589 semapv:UnspecifiedMatching +Orphanet:180071 Unilateral aplasia of the Müllerian ducts oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching +Orphanet:180074 True unicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching +Orphanet:180074 True unicornuate uterus oboInOwl:hasDbXref UMLS:C0266389 semapv:UnspecifiedMatching +Orphanet:180079 Pseudounicornuate uterus oboInOwl:hasDbXref ICD10:Q51.4 semapv:UnspecifiedMatching +Orphanet:180079 Pseudounicornuate uterus oboInOwl:hasDbXref UMLS:C4749300 semapv:UnspecifiedMatching +Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching +Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching +Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref MESH:D000093642 semapv:UnspecifiedMatching +Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref MedDRA:10012770 semapv:UnspecifiedMatching +Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref UMLS:C0266393 semapv:UnspecifiedMatching +Orphanet:180086 Didelphys uterus oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching +Orphanet:1801 Kyphomelic dysplasia oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:1801 Kyphomelic dysplasia oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:1801 Kyphomelic dysplasia oboInOwl:hasDbXref MESH:C538128 semapv:UnspecifiedMatching +Orphanet:1801 Kyphomelic dysplasia oboInOwl:hasDbXref OMIM:211350 semapv:UnspecifiedMatching +Orphanet:1801 Kyphomelic dysplasia oboInOwl:hasDbXref UMLS:C0432239 semapv:UnspecifiedMatching +Orphanet:1801 Kyphomelic dysplasia oboInOwl:hasDbXref icd11:LD24.C semapv:UnspecifiedMatching +Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching +Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching +Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina oboInOwl:hasDbXref UMLS:C5680489 semapv:UnspecifiedMatching +Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching +Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching +Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina oboInOwl:hasDbXref ICD10:Q51.1 semapv:UnspecifiedMatching +Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina oboInOwl:hasDbXref UMLS:C5680491 semapv:UnspecifiedMatching +Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching +Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching +Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching +Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref UMLS:C5680490 semapv:UnspecifiedMatching +Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching +Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:180122 Septate uterus oboInOwl:hasDbXref MESH:D000093665 semapv:UnspecifiedMatching +Orphanet:180122 Septate uterus oboInOwl:hasDbXref MedDRA:10062606 semapv:UnspecifiedMatching +Orphanet:180122 Septate uterus oboInOwl:hasDbXref UMLS:C0152240 semapv:UnspecifiedMatching +Orphanet:180122 Septate uterus oboInOwl:hasDbXref icd11:LB44.4 semapv:UnspecifiedMatching +Orphanet:180126 Complete septate uterus oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:180126 Complete septate uterus oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:180126 Complete septate uterus oboInOwl:hasDbXref UMLS:C2957116 semapv:UnspecifiedMatching +Orphanet:180126 Complete septate uterus oboInOwl:hasDbXref icd11:LB44.4 semapv:UnspecifiedMatching +Orphanet:180129 Partial septate uterus oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:180129 Partial septate uterus oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:180129 Partial septate uterus oboInOwl:hasDbXref UMLS:C0266401 semapv:UnspecifiedMatching +Orphanet:180129 Partial septate uterus oboInOwl:hasDbXref icd11:LB44.4 semapv:UnspecifiedMatching +Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching +Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching +Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref MESH:D000093663 semapv:UnspecifiedMatching +Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref MedDRA:10004550 semapv:UnspecifiedMatching +Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref UMLS:C0266387 semapv:UnspecifiedMatching +Orphanet:180134 Bicornuate uterus oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching +Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref MedDRA:10063146 semapv:UnspecifiedMatching +Orphanet:180139 Uterine hypoplasia oboInOwl:hasDbXref UMLS:C0266399 semapv:UnspecifiedMatching +Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref ICD10:Q51.0 semapv:UnspecifiedMatching +Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref ICD10:Q51.0 semapv:UnspecifiedMatching +Orphanet:180142 Absence of uterine body oboInOwl:hasDbXref UMLS:C5230999 semapv:UnspecifiedMatching +Orphanet:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref ICD10:Q51.5 semapv:UnspecifiedMatching +Orphanet:180145 Uterine cervical aplasia and agenesis oboInOwl:hasDbXref UMLS:C5190813 semapv:UnspecifiedMatching +Orphanet:180148 Syndromic uterovaginal malformation oboInOwl:hasDbXref UMLS:C5680492 semapv:UnspecifiedMatching +Orphanet:180151 Rare vaginal malformation oboInOwl:hasDbXref UMLS:C5680493 semapv:UnspecifiedMatching +Orphanet:180154 Septate vagina oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching +Orphanet:180154 Septate vagina oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching +Orphanet:180154 Septate vagina oboInOwl:hasDbXref UMLS:C0266411 semapv:UnspecifiedMatching +Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching +Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching +Orphanet:180157 Longitudinal vaginal septum oboInOwl:hasDbXref UMLS:C1841680 semapv:UnspecifiedMatching +Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching +Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref ICD10:Q52.1 semapv:UnspecifiedMatching +Orphanet:180160 Transverse vaginal septum oboInOwl:hasDbXref UMLS:C1856006 semapv:UnspecifiedMatching +Orphanet:180163 Rare breast malformation oboInOwl:hasDbXref UMLS:C5680494 semapv:UnspecifiedMatching +Orphanet:180170 Excess breast volume or number oboInOwl:hasDbXref UMLS:C5680496 semapv:UnspecifiedMatching +Orphanet:180173 Deficient breast volume or number oboInOwl:hasDbXref UMLS:C5680495 semapv:UnspecifiedMatching +Orphanet:180176 Familial juvenile hypertrophy of the breast oboInOwl:hasDbXref ICD10:N62 semapv:UnspecifiedMatching +Orphanet:180176 Familial juvenile hypertrophy of the breast oboInOwl:hasDbXref ICD10:N62 semapv:UnspecifiedMatching +Orphanet:180176 Familial juvenile hypertrophy of the breast oboInOwl:hasDbXref OMIM:113670 semapv:UnspecifiedMatching +Orphanet:180176 Familial juvenile hypertrophy of the breast oboInOwl:hasDbXref UMLS:C4749285 semapv:UnspecifiedMatching +Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref ICD10:Q83.1 semapv:UnspecifiedMatching +Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref ICD10:Q83.1 semapv:UnspecifiedMatching +Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref MedDRA:10049786 semapv:UnspecifiedMatching +Orphanet:180182 Supernumerary breasts oboInOwl:hasDbXref UMLS:C0266010 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref ICD10:Q83.0 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref ICD10:Q83.0 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref MESH:C562989 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref OMIM:113700 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref OMIM:616001 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref UMLS:C0432357 semapv:UnspecifiedMatching +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia oboInOwl:hasDbXref icd11:LB60 semapv:UnspecifiedMatching +Orphanet:180193 Syndromic breast hypoplasia/aplasia oboInOwl:hasDbXref UMLS:C5680482 semapv:UnspecifiedMatching +Orphanet:180199 Rare non-malformative gynecologic or obstetric disease oboInOwl:hasDbXref UMLS:C5680480 semapv:UnspecifiedMatching +Orphanet:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C565551 semapv:UnspecifiedMatching +Orphanet:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:231095 semapv:UnspecifiedMatching +Orphanet:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1856465 semapv:UnspecifiedMatching +Orphanet:1802 Ghosal hematodiaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:180202 Rare non-malformative breast disease oboInOwl:hasDbXref UMLS:C5680479 semapv:UnspecifiedMatching +Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease oboInOwl:hasDbXref UMLS:C5681842 semapv:UnspecifiedMatching +Orphanet:180208 Anomaly of puberty or/and menstrual cycle oboInOwl:hasDbXref UMLS:C5680481 semapv:UnspecifiedMatching +Orphanet:180220 Rare uterine adnexal tumor oboInOwl:hasDbXref UMLS:C5680483 semapv:UnspecifiedMatching +Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 semapv:UnspecifiedMatching +Orphanet:180226 Embryonal carcinoma oboInOwl:hasDbXref UMLS:C0206659 semapv:UnspecifiedMatching +Orphanet:180229 Polyembryoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:180229 Polyembryoma oboInOwl:hasDbXref UMLS:C0334518 semapv:UnspecifiedMatching +Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref UMLS:C0334524 semapv:UnspecifiedMatching +Orphanet:180234 Mixed germ cell tumor oboInOwl:hasDbXref icd11:XH2PS1 semapv:UnspecifiedMatching +Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref ICD10:D28.2 semapv:UnspecifiedMatching +Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref ICD10:D28.2 semapv:UnspecifiedMatching +Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10053865 semapv:UnspecifiedMatching +Orphanet:180237 Benign tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0346190 semapv:UnspecifiedMatching +Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref ICD10:C57.0 semapv:UnspecifiedMatching +Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref MedDRA:10025915 semapv:UnspecifiedMatching +Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref UMLS:C0153579 semapv:UnspecifiedMatching +Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref icd11:2C74 semapv:UnspecifiedMatching +Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching +Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching +Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref UMLS:C0262659 semapv:UnspecifiedMatching +Orphanet:180250 Rare breast tumor oboInOwl:hasDbXref UMLS:C5680484 semapv:UnspecifiedMatching +Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching +Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref UMLS:C5680485 semapv:UnspecifiedMatching +Orphanet:180257 Rare malignant breast tumor oboInOwl:hasDbXref UMLS:C5679588 semapv:UnspecifiedMatching +Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref ICD10:D48.6 semapv:UnspecifiedMatching +Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref ICD10:D48.6 semapv:UnspecifiedMatching +Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching +Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref MedDRA:10011813 semapv:UnspecifiedMatching +Orphanet:180261 Phyllodes tumor of the breast oboInOwl:hasDbXref UMLS:C0238031 semapv:UnspecifiedMatching +Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching +Orphanet:180267 Giant adenofibroma of the breast oboInOwl:hasDbXref UMLS:C0346157 semapv:UnspecifiedMatching +Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MESH:D010144 semapv:UnspecifiedMatching +Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MedDRA:10033367 semapv:UnspecifiedMatching +Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref UMLS:C1704323 semapv:UnspecifiedMatching +Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching +Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref MESH:C564773 semapv:UnspecifiedMatching +Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref OMIM:273740 semapv:UnspecifiedMatching +Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref UMLS:C1848863 semapv:UnspecifiedMatching +Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref icd11:LD24.BY semapv:UnspecifiedMatching +Orphanet:180303 Rare non-malformative uterine adnexal disease oboInOwl:hasDbXref UMLS:C5681841 semapv:UnspecifiedMatching +Orphanet:180312 Rare vulvovaginal tumor oboInOwl:hasDbXref UMLS:C5680468 semapv:UnspecifiedMatching +Orphanet:1804 Dyssegmental dysplasia-glaucoma syndrome oboInOwl:hasDbXref OMIM:601561 semapv:UnspecifiedMatching +Orphanet:1804 Dyssegmental dysplasia-glaucoma syndrome oboInOwl:hasDbXref UMLS:C1832111 semapv:UnspecifiedMatching +Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref OMIM:268320 semapv:UnspecifiedMatching +Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref UMLS:C4302546 semapv:UnspecifiedMatching +Orphanet:1806 Ectodermal dysplasia-blindness syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref MESH:C536385 semapv:UnspecifiedMatching +Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref OMIM:227260 semapv:UnspecifiedMatching +Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref UMLS:C1744559 semapv:UnspecifiedMatching +Orphanet:1807 Focal facial dermal dysplasia type III oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C5680472 semapv:UnspecifiedMatching +Orphanet:180772 Rare disease with autism oboInOwl:hasDbXref UMLS:C5680471 semapv:UnspecifiedMatching +Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation oboInOwl:hasDbXref UMLS:C5680470 semapv:UnspecifiedMatching +Orphanet:180779 Syndromic diaphragmatic or thoracic malformation oboInOwl:hasDbXref UMLS:C5680469 semapv:UnspecifiedMatching +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref MESH:C536180 semapv:UnspecifiedMatching +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref OMIM:601375 semapv:UnspecifiedMatching +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref UMLS:C1832411 semapv:UnspecifiedMatching +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:180821 Rare gastroesophageal tumor oboInOwl:hasDbXref UMLS:C5680473 semapv:UnspecifiedMatching +Orphanet:180824 Rare tumor of pancreas oboInOwl:hasDbXref MedDRA:10061902 semapv:UnspecifiedMatching +Orphanet:180824 Rare tumor of pancreas oboInOwl:hasDbXref UMLS:C5679585 semapv:UnspecifiedMatching +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref MESH:C535621 semapv:UnspecifiedMatching +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref UMLS:C2930953 semapv:UnspecifiedMatching +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:617337 semapv:UnspecifiedMatching +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C5680003 semapv:UnspecifiedMatching +Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref MESH:C537741 semapv:UnspecifiedMatching +Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref OMIM:601319 semapv:UnspecifiedMatching +Orphanet:1811 Odontomicronychial dysplasia oboInOwl:hasDbXref UMLS:C1832473 semapv:UnspecifiedMatching +Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref OMIM:225040 semapv:UnspecifiedMatching +Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref UMLS:C4518334 semapv:UnspecifiedMatching +Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:181368 Rare insulin-resistance syndrome oboInOwl:hasDbXref UMLS:C5680478 semapv:UnspecifiedMatching +Orphanet:181368 Rare insulin-resistance syndrome oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:181371 Rare diabetes mellitus type 1 oboInOwl:hasDbXref UMLS:C5679586 semapv:UnspecifiedMatching +Orphanet:181376 Rare diabetes mellitus type 2 oboInOwl:hasDbXref UMLS:C5679587 semapv:UnspecifiedMatching +Orphanet:181381 Other rare diabetes mellitus oboInOwl:hasDbXref UMLS:C5680476 semapv:UnspecifiedMatching +Orphanet:181384 Rare hypothalamic or pituitary disease oboInOwl:hasDbXref UMLS:C5680477 semapv:UnspecifiedMatching +Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5680474 semapv:UnspecifiedMatching +Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature oboInOwl:hasDbXref UMLS:C5680475 semapv:UnspecifiedMatching +Orphanet:181393 Growth hormone insensitivity syndrome oboInOwl:hasDbXref UMLS:C4318479 semapv:UnspecifiedMatching +Orphanet:181396 Rare hypothyroidism oboInOwl:hasDbXref UMLS:C5680612 semapv:UnspecifiedMatching +Orphanet:181399 Rare hyperthyroidism oboInOwl:hasDbXref UMLS:C5680610 semapv:UnspecifiedMatching +Orphanet:181402 Syndrome with hypoparathyroidism oboInOwl:hasDbXref UMLS:C5680611 semapv:UnspecifiedMatching +Orphanet:181405 Rare hypoparathyroidism oboInOwl:hasDbXref UMLS:C5680613 semapv:UnspecifiedMatching +Orphanet:181408 Rare hyperparathyroidism oboInOwl:hasDbXref UMLS:C5680614 semapv:UnspecifiedMatching +Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref MESH:D047808 semapv:UnspecifiedMatching +Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref MedDRA:10061630 semapv:UnspecifiedMatching +Orphanet:181412 Adrenogenital syndrome oboInOwl:hasDbXref UMLS:C0302280 semapv:UnspecifiedMatching +Orphanet:181415 Rare primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C5679597 semapv:UnspecifiedMatching +Orphanet:181419 Rare hypoaldosteronism oboInOwl:hasDbXref UMLS:C5680606 semapv:UnspecifiedMatching +Orphanet:181422 Rare hyperlipidemia oboInOwl:hasDbXref UMLS:C5680607 semapv:UnspecifiedMatching +Orphanet:181428 Hyperalphalipoproteinemia oboInOwl:hasDbXref UMLS:C0342883 semapv:UnspecifiedMatching +Orphanet:181428 Hyperalphalipoproteinemia oboInOwl:hasDbXref icd11:5C80.3 semapv:UnspecifiedMatching +Orphanet:181431 Rare hypolipidemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:181431 Rare hypolipidemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:181431 Rare hypolipidemia oboInOwl:hasDbXref UMLS:C5680609 semapv:UnspecifiedMatching +Orphanet:181437 Rare syndromic dyslipidemia oboInOwl:hasDbXref UMLS:C5680608 semapv:UnspecifiedMatching +Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5679596 semapv:UnspecifiedMatching +Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:246500 semapv:UnspecifiedMatching +Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C0406729 semapv:UnspecifiedMatching +Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref MESH:C565068 semapv:UnspecifiedMatching +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref OMIM:129510 semapv:UnspecifiedMatching +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref UMLS:C1851858 semapv:UnspecifiedMatching +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.0 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.1 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.2 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.8 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.8 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.9 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref ICD10:B43.9 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref MESH:D002862 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref MedDRA:10008803 semapv:UnspecifiedMatching +Orphanet:182 Chromomycosis oboInOwl:hasDbXref UMLS:C0008582 semapv:UnspecifiedMatching +Orphanet:182043 Rare constitutional hemolytic anemia oboInOwl:hasDbXref UMLS:C5680605 semapv:UnspecifiedMatching +Orphanet:182047 Rare acquired hemolytic anemia oboInOwl:hasDbXref UMLS:C5680604 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref MESH:C535507 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref MedDRA:10079437 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +Orphanet:182050 MYH9-related disease oboInOwl:hasDbXref UMLS:C5200934 semapv:UnspecifiedMatching +Orphanet:182054 Rare thrombotic disease of hematologic origin oboInOwl:hasDbXref UMLS:C5680603 semapv:UnspecifiedMatching +Orphanet:182058 Primary orthostatic hypotension oboInOwl:hasDbXref UMLS:C5680599 semapv:UnspecifiedMatching +Orphanet:182061 Cerebellar malformation oboInOwl:hasDbXref UMLS:C4025708 semapv:UnspecifiedMatching +Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease oboInOwl:hasDbXref UMLS:C5680598 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref MedDRA:10018338 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:607248 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:613028 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:613029 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:613030 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:613031 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:613032 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref OMIM:613033 semapv:UnspecifiedMatching +Orphanet:182067 Glial tumor oboInOwl:hasDbXref UMLS:C0017638 semapv:UnspecifiedMatching +Orphanet:182070 Rare neurodegenerative disease oboInOwl:hasDbXref UMLS:C5680602 semapv:UnspecifiedMatching +Orphanet:182079 ARX-related epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5680600 semapv:UnspecifiedMatching +Orphanet:182083 Channelopathy with epilepsy oboInOwl:hasDbXref UMLS:C5680595 semapv:UnspecifiedMatching +Orphanet:182086 Acquired peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680596 semapv:UnspecifiedMatching +Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MESH:D000081029 semapv:UnspecifiedMatching +Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10064911 semapv:UnspecifiedMatching +Orphanet:182090 Pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C2973725 semapv:UnspecifiedMatching +Orphanet:182095 Interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching +Orphanet:182095 Interstitial lung disease oboInOwl:hasDbXref MedDRA:10022611 semapv:UnspecifiedMatching +Orphanet:182095 Interstitial lung disease oboInOwl:hasDbXref UMLS:C0206062 semapv:UnspecifiedMatching +Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref MESH:D011009 semapv:UnspecifiedMatching +Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref MedDRA:10035653 semapv:UnspecifiedMatching +Orphanet:182098 Pneumoconiosis oboInOwl:hasDbXref UMLS:C0032273 semapv:UnspecifiedMatching +Orphanet:182101 Idiopathic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching +Orphanet:182101 Idiopathic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C3872845 semapv:UnspecifiedMatching +Orphanet:182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease oboInOwl:hasDbXref UMLS:C5679595 semapv:UnspecifiedMatching +Orphanet:182108 Thoracic malformation oboInOwl:hasDbXref UMLS:C5680597 semapv:UnspecifiedMatching +Orphanet:182111 Respiratory malformation oboInOwl:hasDbXref UMLS:C5680590 semapv:UnspecifiedMatching +Orphanet:182114 Rare urogenital tumor oboInOwl:hasDbXref UMLS:C5680591 semapv:UnspecifiedMatching +Orphanet:182117 Non-syndromic urogenital tract malformation of female oboInOwl:hasDbXref UMLS:C5680592 semapv:UnspecifiedMatching +Orphanet:182121 Non-syndromic urogenital tract malformation of male oboInOwl:hasDbXref UMLS:C5680593 semapv:UnspecifiedMatching +Orphanet:182124 Non-syndromic urogenital tract malformation of male and female oboInOwl:hasDbXref UMLS:C5680594 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C38.3 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C38.3 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C48.8 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C48.8 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref MESH:D018237 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref MedDRA:10018207 semapv:UnspecifiedMatching +Orphanet:182127 Extragonadal germinoma oboInOwl:hasDbXref UMLS:C5190513 semapv:UnspecifiedMatching +Orphanet:182130 Tumor of endocrine glands oboInOwl:hasDbXref MESH:D004701 semapv:UnspecifiedMatching +Orphanet:182130 Tumor of endocrine glands oboInOwl:hasDbXref MedDRA:10061121 semapv:UnspecifiedMatching +Orphanet:182130 Tumor of endocrine glands oboInOwl:hasDbXref UMLS:C0014132 semapv:UnspecifiedMatching +Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref MESH:C537997 semapv:UnspecifiedMatching +Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref OMIM:127800 semapv:UnspecifiedMatching +Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref UMLS:C0432282 semapv:UnspecifiedMatching +Orphanet:1822 Dysplasia epiphysealis hemimelica oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:182222 Rare systemic disease oboInOwl:hasDbXref UMLS:C5680585 semapv:UnspecifiedMatching +Orphanet:182228 Systemic autoimmune disease oboInOwl:hasDbXref UMLS:C2895206 semapv:UnspecifiedMatching +Orphanet:182231 Rare rheumatologic disease oboInOwl:hasDbXref UMLS:C5680586 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MESH:C537038 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref MedDRA:10062600 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref OMIM:226960 semapv:UnspecifiedMatching +Orphanet:1824 Lowry-Wood syndrome oboInOwl:hasDbXref UMLS:C0796021 semapv:UnspecifiedMatching +Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4707857 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref MESH:C538064 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:305620 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref OMIM:617137 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265293 semapv:UnspecifiedMatching +Orphanet:1826 Frontometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching +Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref MESH:C535657 semapv:UnspecifiedMatching +Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref OMIM:603671 semapv:UnspecifiedMatching +Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref UMLS:C0796182 semapv:UnspecifiedMatching +Orphanet:1827 Acromelic frontonasal dysplasia oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:182734 Genetic urticaria oboInOwl:hasDbXref UMLS:C5680587 semapv:UnspecifiedMatching +Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M30.1 semapv:UnspecifiedMatching +Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M30.1 semapv:UnspecifiedMatching +Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D015267 semapv:UnspecifiedMatching +Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10048594 semapv:UnspecifiedMatching +Orphanet:183 Eosinophilic granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C0008728 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MedDRA:10048699 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref OMIM:242900 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0877024 semapv:UnspecifiedMatching +Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref icd11:4A01.32 semapv:UnspecifiedMatching +Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref MESH:C535537 semapv:UnspecifiedMatching +Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref OMIM:109120 semapv:UnspecifiedMatching +Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref UMLS:C2930925 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref MESH:C535282 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref MedDRA:10087908 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref OMIM:259775 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref UMLS:C1850106 semapv:UnspecifiedMatching +Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref MESH:C537790 semapv:UnspecifiedMatching +Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref UMLS:C2931613 semapv:UnspecifiedMatching +Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer oboInOwl:hasDbXref UMLS:C5680589 semapv:UnspecifiedMatching +Orphanet:183426 Genetic epidermal disorder oboInOwl:hasDbXref UMLS:C5680588 semapv:UnspecifiedMatching +Orphanet:183435 Inherited ichthyosis oboInOwl:hasDbXref MedDRA:10021202 semapv:UnspecifiedMatching +Orphanet:183435 Inherited ichthyosis oboInOwl:hasDbXref UMLS:C0856562 semapv:UnspecifiedMatching +Orphanet:183438 Genetic erythrokeratoderma oboInOwl:hasDbXref UMLS:C5680579 semapv:UnspecifiedMatching +Orphanet:183441 Genetic acrokeratoderma oboInOwl:hasDbXref UMLS:C5680581 semapv:UnspecifiedMatching +Orphanet:183444 Genetic porokeratosis oboInOwl:hasDbXref UMLS:C5680580 semapv:UnspecifiedMatching +Orphanet:183447 Genetic epidermal appendage anomaly oboInOwl:hasDbXref UMLS:C5680583 semapv:UnspecifiedMatching +Orphanet:183450 Genetic hair anomaly oboInOwl:hasDbXref UMLS:C5680582 semapv:UnspecifiedMatching +Orphanet:183454 Genetic nail anomaly oboInOwl:hasDbXref UMLS:C5680584 semapv:UnspecifiedMatching +Orphanet:183460 Genetic sebaceous gland anomaly oboInOwl:hasDbXref UMLS:C5680577 semapv:UnspecifiedMatching +Orphanet:183463 Genetic pigmentation anomaly of the skin oboInOwl:hasDbXref UMLS:C5680578 semapv:UnspecifiedMatching +Orphanet:183466 Genetic hyperpigmentation of the skin oboInOwl:hasDbXref UMLS:C5680575 semapv:UnspecifiedMatching +Orphanet:183469 Genetic hypopigmentation of the skin oboInOwl:hasDbXref UMLS:C5680576 semapv:UnspecifiedMatching +Orphanet:183472 Genetic dermis disorder oboInOwl:hasDbXref UMLS:C5680574 semapv:UnspecifiedMatching +Orphanet:183478 Genetic skin vascular disorder oboInOwl:hasDbXref UMLS:C5680572 semapv:UnspecifiedMatching +Orphanet:183481 Genetic mixed dermis disorder oboInOwl:hasDbXref UMLS:C5680573 semapv:UnspecifiedMatching +Orphanet:183484 Genetic subcutaneous tissue disorder oboInOwl:hasDbXref UMLS:C5680570 semapv:UnspecifiedMatching +Orphanet:183487 Genetic skin tumor or hamartoma oboInOwl:hasDbXref UMLS:C5680571 semapv:UnspecifiedMatching +Orphanet:183490 Genetic photodermatosis oboInOwl:hasDbXref UMLS:C5679594 semapv:UnspecifiedMatching +Orphanet:183494 Genetic immune deficiency with skin involvement oboInOwl:hasDbXref UMLS:C5680569 semapv:UnspecifiedMatching +Orphanet:183497 Genetic neuromuscular disease oboInOwl:hasDbXref UMLS:C5680567 semapv:UnspecifiedMatching +Orphanet:183500 Genetic neurodegenerative disease oboInOwl:hasDbXref UMLS:C5680568 semapv:UnspecifiedMatching +Orphanet:183503 Genetic central nervous system and retinal vascular disease oboInOwl:hasDbXref UMLS:C5681839 semapv:UnspecifiedMatching +Orphanet:183506 Genetic central nervous system malformation oboInOwl:hasDbXref UMLS:C5680566 semapv:UnspecifiedMatching +Orphanet:183509 Rare genetic headache oboInOwl:hasDbXref UMLS:C5680565 semapv:UnspecifiedMatching +Orphanet:183512 Rare genetic epilepsy oboInOwl:hasDbXref UMLS:C5680564 semapv:UnspecifiedMatching +Orphanet:183515 Rare genetic medullar disease oboInOwl:hasDbXref UMLS:C5681838 semapv:UnspecifiedMatching +Orphanet:183521 Rare genetic movement disorder oboInOwl:hasDbXref UMLS:C5680562 semapv:UnspecifiedMatching +Orphanet:183524 Rare genetic bone disease oboInOwl:hasDbXref UMLS:C5680561 semapv:UnspecifiedMatching +Orphanet:183527 Genetic bone tumor oboInOwl:hasDbXref UMLS:C5680560 semapv:UnspecifiedMatching +Orphanet:183530 Rare genetic developmental defect during embryogenesis oboInOwl:hasDbXref UMLS:C5680559 semapv:UnspecifiedMatching +Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome oboInOwl:hasDbXref UMLS:C5680558 semapv:UnspecifiedMatching +Orphanet:183536 Genetic congenital limb malformation oboInOwl:hasDbXref UMLS:C5680557 semapv:UnspecifiedMatching +Orphanet:183539 Genetic renal or urinary tract malformation oboInOwl:hasDbXref UMLS:C5680556 semapv:UnspecifiedMatching +Orphanet:183542 Genetic cranial malformation oboInOwl:hasDbXref UMLS:C5680555 semapv:UnspecifiedMatching +Orphanet:183545 Genetic digestive tract malformation oboInOwl:hasDbXref UMLS:C5681837 semapv:UnspecifiedMatching +Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen oboInOwl:hasDbXref UMLS:C5680554 semapv:UnspecifiedMatching +Orphanet:183554 Genetic respiratory or mediastinal malformation oboInOwl:hasDbXref UMLS:C5680553 semapv:UnspecifiedMatching +Orphanet:183557 Genetic developmental defect of the eye oboInOwl:hasDbXref UMLS:C5680550 semapv:UnspecifiedMatching +Orphanet:183570 Genetic malformation syndrome with short stature oboInOwl:hasDbXref UMLS:C5680551 semapv:UnspecifiedMatching +Orphanet:183573 Genetic overgrowth/obesity syndrome oboInOwl:hasDbXref UMLS:C5680552 semapv:UnspecifiedMatching +Orphanet:183576 Genetic branchial arch or oral-acral syndrome oboInOwl:hasDbXref UMLS:C5680546 semapv:UnspecifiedMatching +Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component oboInOwl:hasDbXref UMLS:C5680547 semapv:UnspecifiedMatching +Orphanet:183583 Genetic head and neck malformation oboInOwl:hasDbXref UMLS:C5680548 semapv:UnspecifiedMatching +Orphanet:183586 Genetic glomerular disease oboInOwl:hasDbXref UMLS:C5680549 semapv:UnspecifiedMatching +Orphanet:183589 Genetic thrombotic microangiopathy oboInOwl:hasDbXref UMLS:C5680543 semapv:UnspecifiedMatching +Orphanet:183592 Genetic renal tubular disease oboInOwl:hasDbXref UMLS:C5680544 semapv:UnspecifiedMatching +Orphanet:183595 Genetic renal tumor oboInOwl:hasDbXref UMLS:C5680545 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref MESH:C535547 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref OMIM:156232 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref OMIM:613681 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref UMLS:C1835009 semapv:UnspecifiedMatching +Orphanet:1836 Mesomelic dysplasia, Kantaputra type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:183607 Genetic lens and zonula anomaly oboInOwl:hasDbXref UMLS:C5680542 semapv:UnspecifiedMatching +Orphanet:183616 Genetic neuro-ophthalmological disease oboInOwl:hasDbXref UMLS:C5680540 semapv:UnspecifiedMatching +Orphanet:183619 Genetic eye tumor oboInOwl:hasDbXref UMLS:C5681835 semapv:UnspecifiedMatching +Orphanet:183622 Genetic respiratory malformation oboInOwl:hasDbXref UMLS:C5680541 semapv:UnspecifiedMatching +Orphanet:183625 Rare genetic diabetes mellitus oboInOwl:hasDbXref UMLS:C5680537 semapv:UnspecifiedMatching +Orphanet:183628 Rare genetic hypothalamic or pituitary disease oboInOwl:hasDbXref UMLS:C5680536 semapv:UnspecifiedMatching +Orphanet:183631 Rare genetic thyroid disease oboInOwl:hasDbXref UMLS:C5680539 semapv:UnspecifiedMatching +Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder oboInOwl:hasDbXref UMLS:C5680538 semapv:UnspecifiedMatching +Orphanet:183637 Rare genetic adrenal disease oboInOwl:hasDbXref UMLS:C5680534 semapv:UnspecifiedMatching +Orphanet:183643 Genetic polyendocrinopathy oboInOwl:hasDbXref UMLS:C5680535 semapv:UnspecifiedMatching +Orphanet:183651 Rare constitutional anemia oboInOwl:hasDbXref UMLS:C5680532 semapv:UnspecifiedMatching +Orphanet:183654 Rare genetic coagulation disorder oboInOwl:hasDbXref UMLS:C5680533 semapv:UnspecifiedMatching +Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref MESH:D016511 semapv:UnspecifiedMatching +Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref MedDRA:10069566 semapv:UnspecifiedMatching +Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C0085110 semapv:UnspecifiedMatching +Orphanet:183660 Severe combined immunodeficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections oboInOwl:hasDbXref UMLS:C5190885 semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref ICD10:D80.5 semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections oboInOwl:hasDbXref UMLS:C5190886 semapv:UnspecifiedMatching +Orphanet:183669 Agammaglobulinemia oboInOwl:hasDbXref MESH:D000361 semapv:UnspecifiedMatching +Orphanet:183669 Agammaglobulinemia oboInOwl:hasDbXref MedDRA:10001471 semapv:UnspecifiedMatching +Orphanet:183669 Agammaglobulinemia oboInOwl:hasDbXref UMLS:C0001768 semapv:UnspecifiedMatching +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref MESH:C564131 semapv:UnspecifiedMatching +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref OMIM:614102 semapv:UnspecifiedMatching +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency oboInOwl:hasDbXref UMLS:C3279824 semapv:UnspecifiedMatching +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:608233 semapv:UnspecifiedMatching +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:617050 semapv:UnspecifiedMatching +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref UMLS:C1842362 semapv:UnspecifiedMatching +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:183681 Functional neutrophil defect oboInOwl:hasDbXref UMLS:C5681846 semapv:UnspecifiedMatching +Orphanet:183681 Functional neutrophil defect oboInOwl:hasDbXref icd11:4A00.0 semapv:UnspecifiedMatching +Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref MESH:C536935 semapv:UnspecifiedMatching +Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:191420 semapv:UnspecifiedMatching +Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1860615 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:618987 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1842398 semapv:UnspecifiedMatching +Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref icd11:4A00.00 semapv:UnspecifiedMatching +Orphanet:183710 Genetic susceptibility to infections due to particular pathogens oboInOwl:hasDbXref UMLS:C5680530 semapv:UnspecifiedMatching +Orphanet:183710 Genetic susceptibility to infections due to particular pathogens oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref OMIM:612260 semapv:UnspecifiedMatching +Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref UMLS:C5680529 semapv:UnspecifiedMatching +Orphanet:183731 Rare genetic gynecological and obstetrical diseases oboInOwl:hasDbXref UMLS:C5680528 semapv:UnspecifiedMatching +Orphanet:183734 Genetic gynecological tumor oboInOwl:hasDbXref UMLS:C5680531 semapv:UnspecifiedMatching +Orphanet:183757 Rare genetic intellectual disability oboInOwl:hasDbXref UMLS:C5680527 semapv:UnspecifiedMatching +Orphanet:183763 Rare genetic syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5680525 semapv:UnspecifiedMatching +Orphanet:183770 Rare genetic immune disease oboInOwl:hasDbXref UMLS:C5680526 semapv:UnspecifiedMatching +Orphanet:1838 Metaphyseal dysplasia without hypotrichosis oboInOwl:hasDbXref OMIM:250460 semapv:UnspecifiedMatching +Orphanet:1838 Metaphyseal dysplasia without hypotrichosis oboInOwl:hasDbXref UMLS:C1834821 semapv:UnspecifiedMatching +Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref ICD10:K13.7 semapv:UnspecifiedMatching +Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref MESH:C536476 semapv:UnspecifiedMatching +Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref OMIM:158310 semapv:UnspecifiedMatching +Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref UMLS:C1274795 semapv:UnspecifiedMatching +Orphanet:1839 Hereditary mucoepithelial dysplasia oboInOwl:hasDbXref icd11:DA02.0 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref ICD10:K10.8 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref MESH:D002636 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref MedDRA:10070535 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref OMIM:118400 semapv:UnspecifiedMatching +Orphanet:184 Cherubism oboInOwl:hasDbXref UMLS:C0008029 semapv:UnspecifiedMatching +Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref MESH:C565896 semapv:UnspecifiedMatching +Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref OMIM:211120 semapv:UnspecifiedMatching +Orphanet:1842 Bone dysplasia, lethal Holmgren type oboInOwl:hasDbXref UMLS:C1859407 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref MESH:C536482 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:191830 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:615721 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:617805 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref OMIM:619887 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref UMLS:C1609433 semapv:UnspecifiedMatching +Orphanet:1848 Renal agenesis, bilateral oboInOwl:hasDbXref icd11:LB30.00 semapv:UnspecifiedMatching +Orphanet:185 Scimitar syndrome oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:185 Scimitar syndrome oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:185 Scimitar syndrome oboInOwl:hasDbXref MESH:D012587 semapv:UnspecifiedMatching +Orphanet:185 Scimitar syndrome oboInOwl:hasDbXref MedDRA:10051951 semapv:UnspecifiedMatching +Orphanet:185 Scimitar syndrome oboInOwl:hasDbXref UMLS:C0036400 semapv:UnspecifiedMatching +Orphanet:185 Scimitar syndrome oboInOwl:hasDbXref icd11:LA86.22 semapv:UnspecifiedMatching +Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref MESH:D021782 semapv:UnspecifiedMatching +Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C3714581 semapv:UnspecifiedMatching +Orphanet:1851 Multicystic dysplastic kidney oboInOwl:hasDbXref icd11:LB30.9 semapv:UnspecifiedMatching +Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching +Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref OMIM:312550 semapv:UnspecifiedMatching +Orphanet:1852 X-linked retinal dysplasia oboInOwl:hasDbXref UMLS:C4275241 semapv:UnspecifiedMatching +Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref MESH:C535782 semapv:UnspecifiedMatching +Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref OMIM:607944 semapv:UnspecifiedMatching +Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref UMLS:C0432222 semapv:UnspecifiedMatching +Orphanet:1855 Spondyloenchondrodysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref MESH:C535799 semapv:UnspecifiedMatching +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref OMIM:271700 semapv:UnspecifiedMatching +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref UMLS:C4706658 semapv:UnspecifiedMatching +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref MESH:C537625 semapv:UnspecifiedMatching +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref OMIM:601187 semapv:UnspecifiedMatching +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome oboInOwl:hasDbXref UMLS:C0796046 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref MESH:D008105 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref MedDRA:10080429 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:109720 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:613007 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:613008 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614220 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref OMIM:614221 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0008312 semapv:UnspecifiedMatching +Orphanet:186 Primary biliary cholangitis oboInOwl:hasDbXref icd11:DB96.1 semapv:UnspecifiedMatching +Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching +Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref MESH:C566844 semapv:UnspecifiedMatching +Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching +Orphanet:1860 Thanatophoric dysplasia type 1 oboInOwl:hasDbXref UMLS:C1868678 semapv:UnspecifiedMatching +Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref MESH:C564774 semapv:UnspecifiedMatching +Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:273730 semapv:UnspecifiedMatching +Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C1848864 semapv:UnspecifiedMatching +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref MESH:C537998 semapv:UnspecifiedMatching +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref OMIM:224410 semapv:UnspecifiedMatching +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:1866 Focal, segmental or multifocal dystonia oboInOwl:hasDbXref UMLS:C5680914 semapv:UnspecifiedMatching +Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref MESH:C563065 semapv:UnspecifiedMatching +Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref OMIM:302000 semapv:UnspecifiedMatching +Orphanet:1867 Hereditary bullous dystrophy, macular type oboInOwl:hasDbXref UMLS:C0795974 semapv:UnspecifiedMatching +Orphanet:187 Citrullinemia oboInOwl:hasDbXref MESH:D020159 semapv:UnspecifiedMatching +Orphanet:187 Citrullinemia oboInOwl:hasDbXref UMLS:C0175683 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref MedDRA:10083940 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:180020 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:300085 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:304030 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref OMIM:613093 semapv:UnspecifiedMatching +Orphanet:1871 Progressive cone dystrophy oboInOwl:hasDbXref UMLS:C0271092 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref MESH:D000071700 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref MedDRA:10085521 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:120970 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:300476 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:300834 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:304020 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:600624 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:600977 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:601777 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:603649 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:604116 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:605549 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:608194 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610283 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610381 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:610478 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:612657 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:612775 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:613660 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:614500 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615163 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615374 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615860 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:615973 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:616502 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:618555 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref OMIM:619531 semapv:UnspecifiedMatching +Orphanet:1872 Cone rod dystrophy oboInOwl:hasDbXref UMLS:C4085590 semapv:UnspecifiedMatching +Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref MESH:C000596385 semapv:UnspecifiedMatching +Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref OMIM:217080 semapv:UnspecifiedMatching +Orphanet:1873 Jalili syndrome oboInOwl:hasDbXref UMLS:C3495589 semapv:UnspecifiedMatching +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref MESH:C537661 semapv:UnspecifiedMatching +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref OMIM:254000 semapv:UnspecifiedMatching +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C2931578 semapv:UnspecifiedMatching +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching +Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref OMIM:277320 semapv:UnspecifiedMatching +Orphanet:1876 Oculogastrointestinal muscular dystrophy oboInOwl:hasDbXref UMLS:C1848586 semapv:UnspecifiedMatching +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref MESH:C535897 semapv:UnspecifiedMatching +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref OMIM:254110 semapv:UnspecifiedMatching +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 oboInOwl:hasDbXref UMLS:C0270968 semapv:UnspecifiedMatching +Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref MESH:C563593 semapv:UnspecifiedMatching +Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching +Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref UMLS:C3149695 semapv:UnspecifiedMatching +Orphanet:1879 Melorheostosis with osteopoikilosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref ICD10:I78.8 semapv:UnspecifiedMatching +Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching +Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref MedDRA:10007196 semapv:UnspecifiedMatching +Orphanet:188 Systemic capillary leak syndrome oboInOwl:hasDbXref UMLS:C0343084 semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref ICD10:Q22.5 semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref MESH:D004437 semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref MedDRA:10014075 semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref OMIM:224700 semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref UMLS:C0013481 semapv:UnspecifiedMatching +Orphanet:1880 Ebstein malformation of the tricuspid valve oboInOwl:hasDbXref icd11:LA87.03 semapv:UnspecifiedMatching +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref MESH:C565604 semapv:UnspecifiedMatching +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref OMIM:225050 semapv:UnspecifiedMatching +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1857052 semapv:UnspecifiedMatching +Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:224800 semapv:UnspecifiedMatching +Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C4518541 semapv:UnspecifiedMatching +Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref MESH:C536124 semapv:UnspecifiedMatching +Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref UMLS:C2931115 semapv:UnspecifiedMatching +Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome oboInOwl:hasDbXref icd11:LA12.Y semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref ICD10:Q12.1 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref MESH:D004479 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref MedDRA:10014145 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:129600 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:225100 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref OMIM:225200 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref UMLS:C1851286 semapv:UnspecifiedMatching +Orphanet:1885 Isolated ectopia lentis oboInOwl:hasDbXref icd11:LA12.Y semapv:UnspecifiedMatching +Orphanet:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome oboInOwl:hasDbXref OMIM:129810 semapv:UnspecifiedMatching +Orphanet:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome oboInOwl:hasDbXref UMLS:C1851849 semapv:UnspecifiedMatching +Orphanet:1889 Ectrodactyly-cleft palate syndrome oboInOwl:hasDbXref OMIM:129830 semapv:UnspecifiedMatching +Orphanet:1889 Ectrodactyly-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1851848 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162361 semapv:UnspecifiedMatching +Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C537446 semapv:UnspecifiedMatching +Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:246555 semapv:UnspecifiedMatching +Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C0796001 semapv:UnspecifiedMatching +Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q69.9 semapv:UnspecifiedMatching +Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q69.9 semapv:UnspecifiedMatching +Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref OMIM:225290 semapv:UnspecifiedMatching +Orphanet:1892 Ectrodactyly-polydactyly syndrome oboInOwl:hasDbXref UMLS:C4749762 semapv:UnspecifiedMatching +Orphanet:1894 Ectrodactyly-spina bifida-cardiopathy syndrome oboInOwl:hasDbXref UMLS:C2931393 semapv:UnspecifiedMatching +Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref OMIM:219080 semapv:UnspecifiedMatching +Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref OMIM:615954 semapv:UnspecifiedMatching +Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease oboInOwl:hasDbXref UMLS:C2062388 semapv:UnspecifiedMatching +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref UMLS:C5680524 semapv:UnspecifiedMatching +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion oboInOwl:hasDbXref icd11:5A50.0Y semapv:UnspecifiedMatching +Orphanet:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref ICD10:Q95.2 semapv:UnspecifiedMatching +Orphanet:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref ICD10:Q95.2 semapv:UnspecifiedMatching +Orphanet:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref MESH:C563051 semapv:UnspecifiedMatching +Orphanet:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref OMIM:129850 semapv:UnspecifiedMatching +Orphanet:1895 Edinburgh malformation syndrome oboInOwl:hasDbXref UMLS:C0795933 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref OMIM:129900 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref OMIM:604292 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching +Orphanet:1896 EEC syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1897 EEM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1897 EEM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1897 EEM syndrome oboInOwl:hasDbXref MESH:C536190 semapv:UnspecifiedMatching +Orphanet:1897 EEM syndrome oboInOwl:hasDbXref OMIM:225280 semapv:UnspecifiedMatching +Orphanet:1897 EEM syndrome oboInOwl:hasDbXref UMLS:C1857041 semapv:UnspecifiedMatching +Orphanet:1897 EEM syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130060 semapv:UnspecifiedMatching +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617821 semapv:UnspecifiedMatching +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268345 semapv:UnspecifiedMatching +Orphanet:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref MESH:C535306 semapv:UnspecifiedMatching +Orphanet:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref MedDRA:10078971 semapv:UnspecifiedMatching +Orphanet:19 2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C2746066 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref MedDRA:10015901 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref OMIM:300216 semapv:UnspecifiedMatching +Orphanet:190 Coats disease oboInOwl:hasDbXref UMLS:C0154832 semapv:UnspecifiedMatching +Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching +Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency oboInOwl:hasDbXref UMLS:C0268342 semapv:UnspecifiedMatching +Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225410 semapv:UnspecifiedMatching +Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C2700425 semapv:UnspecifiedMatching +Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref ICD10:A48.8 semapv:UnspecifiedMatching +Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref ICD10:A48.8 semapv:UnspecifiedMatching +Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref MESH:D016873 semapv:UnspecifiedMatching +Orphanet:1902 Ehrlichiosis oboInOwl:hasDbXref UMLS:C0085399 semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MESH:C536525 semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref MedDRA:10016524 semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref OMIM:609442 semapv:UnspecifiedMatching +Orphanet:1906 Fetal valproate spectrum disorder oboInOwl:hasDbXref UMLS:C0236026 semapv:UnspecifiedMatching +Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref MedDRA:10071183 semapv:UnspecifiedMatching +Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref UMLS:C0432367 semapv:UnspecifiedMatching +Orphanet:1908 Aminopterin/methotrexate embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref UMLS:C4275138 semapv:UnspecifiedMatching +Orphanet:1909 Indomethacin embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref MESH:D003057 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref MedDRA:10009835 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:216411 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching +Orphanet:191 Cockayne syndrome oboInOwl:hasDbXref UMLS:C0009207 semapv:UnspecifiedMatching +Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref OMIM:228355 semapv:UnspecifiedMatching +Orphanet:1910 Fetal iodine syndrome oboInOwl:hasDbXref UMLS:C4273860 semapv:UnspecifiedMatching +Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref UMLS:C0432371 semapv:UnspecifiedMatching +Orphanet:1911 Cocaine embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref ICD10:Q86.1 semapv:UnspecifiedMatching +Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref ICD10:Q86.1 semapv:UnspecifiedMatching +Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref MESH:C537922 semapv:UnspecifiedMatching +Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref MedDRA:10016508 semapv:UnspecifiedMatching +Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref UMLS:C0265372 semapv:UnspecifiedMatching +Orphanet:1912 Fetal hydantoin syndrome oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching +Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref MESH:C537798 semapv:UnspecifiedMatching +Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref UMLS:C0265373 semapv:UnspecifiedMatching +Orphanet:1913 Fetal trimethadione syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref ICD10:Q86.2 semapv:UnspecifiedMatching +Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref MESH:C536683 semapv:UnspecifiedMatching +Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref MedDRA:10051445 semapv:UnspecifiedMatching +Orphanet:1914 Vitamin K antagonist embryofetopathy oboInOwl:hasDbXref UMLS:C0265374 semapv:UnspecifiedMatching +Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref ICD10:Q86.0 semapv:UnspecifiedMatching +Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref ICD10:Q86.0 semapv:UnspecifiedMatching +Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MESH:D063647 semapv:UnspecifiedMatching +Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref MedDRA:10016845 semapv:UnspecifiedMatching +Orphanet:1915 Fetal alcohol syndrome oboInOwl:hasDbXref UMLS:C0015923 semapv:UnspecifiedMatching +Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref MedDRA:10012780 semapv:UnspecifiedMatching +Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref UMLS:C0853695 semapv:UnspecifiedMatching +Orphanet:1916 Diethylstilbestrol syndrome oboInOwl:hasDbXref icd11:LB44.6 semapv:UnspecifiedMatching +Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching +Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref UMLS:C0265376 semapv:UnspecifiedMatching +Orphanet:1917 Fetal methylmercury syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref UMLS:C0432373 semapv:UnspecifiedMatching +Orphanet:1918 Fetal minoxidil syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref UMLS:C4275281 semapv:UnspecifiedMatching +Orphanet:1919 Phenobarbital embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref MESH:D038921 semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref MedDRA:10081806 semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref OMIM:303600 semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS:C0265252 semapv:UnspecifiedMatching +Orphanet:192 Coffin-Lowry syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref UMLS:C2931737 semapv:UnspecifiedMatching +Orphanet:1920 Toluene embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref UMLS:C4510379 semapv:UnspecifiedMatching +Orphanet:1923 Methimazole embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:1926 Diabetic embryopathy oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching +Orphanet:1926 Diabetic embryopathy oboInOwl:hasDbXref UMLS:C3830518 semapv:UnspecifiedMatching +Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref OMIM:139750 semapv:UnspecifiedMatching +Orphanet:1927 Emery-Nelson syndrome oboInOwl:hasDbXref UMLS:C4751229 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref MESH:C535735 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref MedDRA:10010456 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref OMIM:130710 semapv:UnspecifiedMatching +Orphanet:1928 Congenital lobar emphysema oboInOwl:hasDbXref UMLS:C0265797 semapv:UnspecifiedMatching +Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MESH:C535291 semapv:UnspecifiedMatching +Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref MedDRA:10071141 semapv:UnspecifiedMatching +Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref UMLS:C2930868 semapv:UnspecifiedMatching +Orphanet:1929 Rasmussen subacute encephalitis oboInOwl:hasDbXref icd11:8A62.Y semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref MESH:C536438 semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref MedDRA:10049066 semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching +Orphanet:193 Cohen syndrome oboInOwl:hasDbXref UMLS:C0265223 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:B00.4+ semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref MESH:D020803 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:610551 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:613002 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614849 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:614850 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:616532 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref OMIM:617900 semapv:UnspecifiedMatching +Orphanet:1930 Herpes simplex virus encephalitis oboInOwl:hasDbXref UMLS:C0276226 semapv:UnspecifiedMatching +Orphanet:1931 Frontal encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching +Orphanet:1931 Frontal encephalocele oboInOwl:hasDbXref UMLS:C0431289 semapv:UnspecifiedMatching +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref UMLS:C2749864 semapv:UnspecifiedMatching +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref MedDRA:10071545 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:609304 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:613402 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:613721 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617276 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617350 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617389 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617391 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617493 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617599 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:618548 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:619340 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref UMLS:C0393706 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref icd11:8A62.Y semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:609304 semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref OMIM:617105 semapv:UnspecifiedMatching +Orphanet:1935 Early myoclonic encephalopathy oboInOwl:hasDbXref UMLS:C0270855 semapv:UnspecifiedMatching +Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref OMIM:135950 semapv:UnspecifiedMatching +Orphanet:1937 Eng-Strom syndrome oboInOwl:hasDbXref UMLS:C4512073 semapv:UnspecifiedMatching +Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref MedDRA:10085031 semapv:UnspecifiedMatching +Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref OMIM:607631 semapv:UnspecifiedMatching +Orphanet:1941 Juvenile absence epilepsy oboInOwl:hasDbXref UMLS:C4317339 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref MedDRA:10081179 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:616421 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref OMIM:618587 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref UMLS:C0393702 semapv:UnspecifiedMatching +Orphanet:1942 Myoclonic-astatic epilepsy oboInOwl:hasDbXref icd11:8A61.22 semapv:UnspecifiedMatching +Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus oboInOwl:hasDbXref UMLS:C4510564 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref MESH:D019305 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref MedDRA:10070530 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:117100 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching +Orphanet:1945 Rolandic epilepsy oboInOwl:hasDbXref UMLS:C0376532 semapv:UnspecifiedMatching +Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref MESH:C537213 semapv:UnspecifiedMatching +Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref OMIM:226750 semapv:UnspecifiedMatching +Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref UMLS:C0406740 semapv:UnspecifiedMatching +Orphanet:1946 Amelocerebrohypohidrotic syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref OMIM:610003 semapv:UnspecifiedMatching +Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type oboInOwl:hasDbXref UMLS:C1864923 semapv:UnspecifiedMatching +Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref MESH:C537662 semapv:UnspecifiedMatching +Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:601352 semapv:UnspecifiedMatching +Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C2931579 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref MedDRA:10067866 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:269720 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref OMIM:608217 semapv:UnspecifiedMatching +Orphanet:1949 Benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching +Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref ICD10:Q92.8 semapv:UnspecifiedMatching +Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref MESH:C535918 semapv:UnspecifiedMatching +Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref OMIM:115470 semapv:UnspecifiedMatching +Orphanet:195 Cat-eye syndrome oboInOwl:hasDbXref UMLS:C0265493 semapv:UnspecifiedMatching +Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref MESH:C535497 semapv:UnspecifiedMatching +Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref OMIM:226850 semapv:UnspecifiedMatching +Orphanet:1951 Epilepsy-telangiectasia syndrome oboInOwl:hasDbXref UMLS:C4518554 semapv:UnspecifiedMatching +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref MESH:C538095 semapv:UnspecifiedMatching +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref OMIM:167220 semapv:UnspecifiedMatching +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref UMLS:C1833676 semapv:UnspecifiedMatching +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref MESH:C535513 semapv:UnspecifiedMatching +Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref OMIM:227090 semapv:UnspecifiedMatching +Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref UMLS:C1856898 semapv:UnspecifiedMatching +Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref OMIM:133190 semapv:UnspecifiedMatching +Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref UMLS:C1851481 semapv:UnspecifiedMatching +Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref ICD10:C30.0 semapv:UnspecifiedMatching +Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref ICD10:C30.0 semapv:UnspecifiedMatching +Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref MESH:D018304 semapv:UnspecifiedMatching +Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref UMLS:C0206717 semapv:UnspecifiedMatching +Orphanet:1957 Esthesioneuroblastoma oboInOwl:hasDbXref icd11:XH50L1 semapv:UnspecifiedMatching +Orphanet:1959 Evans syndrome oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching +Orphanet:1959 Evans syndrome oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching +Orphanet:1959 Evans syndrome oboInOwl:hasDbXref MESH:C536380 semapv:UnspecifiedMatching +Orphanet:1959 Evans syndrome oboInOwl:hasDbXref MedDRA:10053873 semapv:UnspecifiedMatching +Orphanet:1959 Evans syndrome oboInOwl:hasDbXref UMLS:C0272126 semapv:UnspecifiedMatching +Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref OMIM:133690 semapv:UnspecifiedMatching +Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref UMLS:C4518772 semapv:UnspecifiedMatching +Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref OMIM:133750 semapv:UnspecifiedMatching +Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4749763 semapv:UnspecifiedMatching +Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref MESH:C537339 semapv:UnspecifiedMatching +Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref OMIM:182150 semapv:UnspecifiedMatching +Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref UMLS:C1866962 semapv:UnspecifiedMatching +Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref MESH:C536384 semapv:UnspecifiedMatching +Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome oboInOwl:hasDbXref UMLS:C2931183 semapv:UnspecifiedMatching +Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref OMIM:220219 semapv:UnspecifiedMatching +Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome oboInOwl:hasDbXref UMLS:C4518773 semapv:UnspecifiedMatching +Orphanet:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref MESH:C565578 semapv:UnspecifiedMatching +Orphanet:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref OMIM:227270 semapv:UnspecifiedMatching +Orphanet:1972 Lethal faciocardiomelic dysplasia oboInOwl:hasDbXref UMLS:C1856891 semapv:UnspecifiedMatching +Orphanet:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref MESH:C536388 semapv:UnspecifiedMatching +Orphanet:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref OMIM:227280 semapv:UnspecifiedMatching +Orphanet:1973 Faciocardiorenal syndrome oboInOwl:hasDbXref UMLS:C0795936 semapv:UnspecifiedMatching +Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref OMIM:227330 semapv:UnspecifiedMatching +Orphanet:1974 Autosomal recessive faciodigitogenital syndrome oboInOwl:hasDbXref UMLS:C1856871 semapv:UnspecifiedMatching +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref OMIM:233805 semapv:UnspecifiedMatching +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency oboInOwl:hasDbXref UMLS:C2931279 semapv:UnspecifiedMatching +Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 semapv:UnspecifiedMatching +Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 semapv:UnspecifiedMatching +Orphanet:198 Occipital horn syndrome oboInOwl:hasDbXref UMLS:C0268353 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref ICD10:G23.8 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref MedDRA:10059626 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:213600 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615007 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615483 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:616413 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:618824 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref UMLS:C0393590 semapv:UnspecifiedMatching +Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref icd11:LD20.4 semapv:UnspecifiedMatching +Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome oboInOwl:hasDbXref ICD10:G93.3 semapv:UnspecifiedMatching +Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref MESH:C537078 semapv:UnspecifiedMatching +Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref UMLS:C0403445 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref MESH:C537917 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref MedDRA:10079731 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref OMIM:228250 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref UMLS:C1856789 semapv:UnspecifiedMatching +Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching +Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching +Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching +Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0345375 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref MESH:C537916 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref MedDRA:10083944 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref OMIM:134780 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref UMLS:C0265263 semapv:UnspecifiedMatching +Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MESH:D003635 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref MedDRA:10056354 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:122470 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:300590 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:300882 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:610759 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIM:614701 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref UMLS:C0270972 semapv:UnspecifiedMatching +Orphanet:199 Cornelia de Lange syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:1991 Cleft lip with or without cleft palate oboInOwl:hasDbXref UMLS:C0810364 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MESH:C535861 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref MedDRA:10077389 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref OMIM:234810 semapv:UnspecifiedMatching +Orphanet:199241 Pulmonary capillary hemangiomatosis oboInOwl:hasDbXref UMLS:C0340548 semapv:UnspecifiedMatching +Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref ICD10:E24.1 semapv:UnspecifiedMatching +Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref ICD10:E24.1 semapv:UnspecifiedMatching +Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref MESH:D009347 semapv:UnspecifiedMatching +Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref MedDRA:10028913 semapv:UnspecifiedMatching +Orphanet:199244 Nelson syndrome oboInOwl:hasDbXref UMLS:C0027577 semapv:UnspecifiedMatching +Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10:E27.8 semapv:UnspecifiedMatching +Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref MESH:C565152 semapv:UnspecifiedMatching +Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OMIM:611489 semapv:UnspecifiedMatching +Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref UMLS:C1852529 semapv:UnspecifiedMatching +Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:UnspecifiedMatching +Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:UnspecifiedMatching +Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref MedDRA:10035154 semapv:UnspecifiedMatching +Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref UMLS:C0158360 semapv:UnspecifiedMatching +Orphanet:199257 Superficial fibromatosis oboInOwl:hasDbXref UMLS:C0406571 semapv:UnspecifiedMatching +Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching +Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching +Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref MESH:C000625499 semapv:UnspecifiedMatching +Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref UMLS:C0553647 semapv:UnspecifiedMatching +Orphanet:199260 Calcifying aponeurotic fibroma oboInOwl:hasDbXref icd11:EE61 semapv:UnspecifiedMatching +Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching +Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching +Orphanet:199267 Infantile digital fibromatosis oboInOwl:hasDbXref UMLS:C1318562 semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref MESH:D000071070 semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref MedDRA:10081235 semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref UMLS:C1275273 semapv:UnspecifiedMatching +Orphanet:199276 Familial multiple lipomatosis oboInOwl:hasDbXref icd11:2E80.0Z semapv:UnspecifiedMatching +Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching +Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref MESH:C565951 semapv:UnspecifiedMatching +Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref OMIM:206550 semapv:UnspecifiedMatching +Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref UMLS:C1859784 semapv:UnspecifiedMatching +Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref MESH:C535634 semapv:UnspecifiedMatching +Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref UMLS:C2029348 semapv:UnspecifiedMatching +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 semapv:UnspecifiedMatching +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 semapv:UnspecifiedMatching +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:115300 semapv:UnspecifiedMatching +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref OMIM:277350 semapv:UnspecifiedMatching +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref UMLS:C4511672 semapv:UnspecifiedMatching +Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching +Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching +Orphanet:199293 Congenital microgastria oboInOwl:hasDbXref UMLS:C0266150 semapv:UnspecifiedMatching +Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref OMIM:201400 semapv:UnspecifiedMatching +Orphanet:199296 Congenital isolated ACTH deficiency oboInOwl:hasDbXref UMLS:C4055196 semapv:UnspecifiedMatching +Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:199299 Late-onset isolated ACTH deficiency oboInOwl:hasDbXref UMLS:C4751433 semapv:UnspecifiedMatching +Orphanet:1993 Pai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1993 Pai syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1993 Pai syndrome oboInOwl:hasDbXref MESH:C536135 semapv:UnspecifiedMatching +Orphanet:1993 Pai syndrome oboInOwl:hasDbXref OMIM:155145 semapv:UnspecifiedMatching +Orphanet:1993 Pai syndrome oboInOwl:hasDbXref UMLS:C1835087 semapv:UnspecifiedMatching +Orphanet:1993 Pai syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.0 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref ICD10:Q36.9 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref MedDRA:10009259 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref UMLS:C1837217 semapv:UnspecifiedMatching +Orphanet:199302 Isolated cleft lip oboInOwl:hasDbXref icd11:LA40 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.0 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.1 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.2 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.3 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.3 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.4 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.4 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.5 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.5 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.8 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.8 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.9 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref ICD10:Q37.9 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref MedDRA:10009260 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:600625 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:608864 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:613705 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:616788 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:618149 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref UMLS:C0158646 semapv:UnspecifiedMatching +Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA40 semapv:UnspecifiedMatching +Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref ICD10:Q99.0 semapv:UnspecifiedMatching +Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref UMLS:C5679592 semapv:UnspecifiedMatching +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref OMIM:613618 semapv:UnspecifiedMatching +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref UMLS:C5680522 semapv:UnspecifiedMatching +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies oboInOwl:hasDbXref icd11:LB98.Y semapv:UnspecifiedMatching +Orphanet:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref MESH:C567439 semapv:UnspecifiedMatching +Orphanet:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612001 semapv:UnspecifiedMatching +Orphanet:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2677613 semapv:UnspecifiedMatching +Orphanet:199318 15q13.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.F semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref MESH:D009877 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref MedDRA:10014801 semapv:UnspecifiedMatching +Orphanet:199323 Endophthalmitis oboInOwl:hasDbXref UMLS:C0014236 semapv:UnspecifiedMatching +Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref UMLS:C4305155 semapv:UnspecifiedMatching +Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching +Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref UMLS:C4511057 semapv:UnspecifiedMatching +Orphanet:199329 Congenital myopathy, Paradas type oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref OMIM:612651 semapv:UnspecifiedMatching +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref UMLS:C4509819 semapv:UnspecifiedMatching +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref OMIM:612714 semapv:UnspecifiedMatching +Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref UMLS:C5680520 semapv:UnspecifiedMatching +Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref OMIM:612954 semapv:UnspecifiedMatching +Orphanet:199340 Muscular dystrophy, Selcen type oboInOwl:hasDbXref UMLS:C4509880 semapv:UnspecifiedMatching +Orphanet:199343 EAST syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:199343 EAST syndrome oboInOwl:hasDbXref MESH:C557674 semapv:UnspecifiedMatching +Orphanet:199343 EAST syndrome oboInOwl:hasDbXref OMIM:612780 semapv:UnspecifiedMatching +Orphanet:199343 EAST syndrome oboInOwl:hasDbXref UMLS:C2748572 semapv:UnspecifiedMatching +Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching +Orphanet:199348 Thiamine-responsive encephalopathy oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching +Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref MESH:C567844 semapv:UnspecifiedMatching +Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:612953 semapv:UnspecifiedMatching +Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751842 semapv:UnspecifiedMatching +Orphanet:199351 Adult-onset dystonia-parkinsonism oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MESH:C563990 semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref MedDRA:10081315 semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy oboInOwl:hasDbXref UMLS:C1838577 semapv:UnspecifiedMatching +Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref MESH:C538272 semapv:UnspecifiedMatching +Orphanet:1995 Cleft lip-retinopathy syndrome oboInOwl:hasDbXref UMLS:C2931789 semapv:UnspecifiedMatching +Orphanet:199627 Atypical autism oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching +Orphanet:199627 Atypical autism oboInOwl:hasDbXref MedDRA:10003747 semapv:UnspecifiedMatching +Orphanet:199627 Atypical autism oboInOwl:hasDbXref UMLS:C0338986 semapv:UnspecifiedMatching +Orphanet:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:199630 Isolated cerebellar vermis hypoplasia oboInOwl:hasDbXref UMLS:C4707794 semapv:UnspecifiedMatching +Orphanet:199633 Non-syndromic cerebral malformation oboInOwl:hasDbXref UMLS:C0266449 semapv:UnspecifiedMatching +Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature oboInOwl:hasDbXref UMLS:C5680521 semapv:UnspecifiedMatching +Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref MedDRA:10027534 semapv:UnspecifiedMatching +Orphanet:199642 Isolated congenital microcephaly oboInOwl:hasDbXref UMLS:C0025958 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref MESH:D004677 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref MedDRA:10014617 semapv:UnspecifiedMatching +Orphanet:199647 Isolated encephalocele oboInOwl:hasDbXref UMLS:C5680519 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref MESH:C536188 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref OMIM:119580 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref OMIM:617681 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref UMLS:C1861536 semapv:UnspecifiedMatching +Orphanet:1997 Blepharo-cheilo-odontic syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref MESH:C538324 semapv:UnspecifiedMatching +Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref OMIM:246450 semapv:UnspecifiedMatching +Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref UMLS:C0268601 semapv:UnspecifiedMatching +Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref UMLS:C5680463 semapv:UnspecifiedMatching +Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref icd11:LA05.3 semapv:UnspecifiedMatching +Orphanet:200037 Paroxysmal dystonia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching +Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref MESH:C538160 semapv:UnspecifiedMatching +Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref OMIM:601165 semapv:UnspecifiedMatching +Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref UMLS:C2931750 semapv:UnspecifiedMatching +Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome oboInOwl:hasDbXref UMLS:C4274888 semapv:UnspecifiedMatching +Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref MESH:C537875 semapv:UnspecifiedMatching +Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching +Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref UMLS:C1840311 semapv:UnspecifiedMatching +Orphanet:2004 Laryngotracheoesophageal cleft oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching +Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref OMIM:610984 semapv:UnspecifiedMatching +Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref UMLS:C5191010 semapv:UnspecifiedMatching +Orphanet:200418 Immunodeficiency with factor I anomaly oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching +Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref MESH:C562875 semapv:UnspecifiedMatching +Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching +Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref UMLS:C0398777 semapv:UnspecifiedMatching +Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching +Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching +Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref UMLS:C4518460 semapv:UnspecifiedMatching +Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref OMIM:203000 semapv:UnspecifiedMatching +Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref UMLS:C4302677 semapv:UnspecifiedMatching +Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref MESH:C563936 semapv:UnspecifiedMatching +Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref OMIM:600460 semapv:UnspecifiedMatching +Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref UMLS:C1838121 semapv:UnspecifiedMatching +Orphanet:2008 Acrocardiofacial syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref MedDRA:10051906 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615107 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615108 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:615109 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref OMIM:616858 semapv:UnspecifiedMatching +Orphanet:201 Cowden syndrome oboInOwl:hasDbXref UMLS:C0018553 semapv:UnspecifiedMatching +Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref OMIM:216300 semapv:UnspecifiedMatching +Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome oboInOwl:hasDbXref UMLS:C4304738 semapv:UnspecifiedMatching +Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref MESH:C536621 semapv:UnspecifiedMatching +Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref OMIM:181180 semapv:UnspecifiedMatching +Orphanet:2013 Cleft palate-large ears-small head syndrome oboInOwl:hasDbXref UMLS:C1867023 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref ICD10:Q35 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref MESH:D002972 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref MedDRA:10009269 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref OMIM:119540 semapv:UnspecifiedMatching +Orphanet:2014 Cleft palate oboInOwl:hasDbXref UMLS:C0008925 semapv:UnspecifiedMatching +Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C4304704 semapv:UnspecifiedMatching +Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref MESH:C563047 semapv:UnspecifiedMatching +Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref OMIM:119550 semapv:UnspecifiedMatching +Orphanet:2016 Cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS:C0795898 semapv:UnspecifiedMatching +Orphanet:2017 Sternal cleft oboInOwl:hasDbXref ICD10:Q76.7 semapv:UnspecifiedMatching +Orphanet:2017 Sternal cleft oboInOwl:hasDbXref MESH:C537489 semapv:UnspecifiedMatching +Orphanet:2017 Sternal cleft oboInOwl:hasDbXref UMLS:C2931507 semapv:UnspecifiedMatching +Orphanet:2017 Sternal cleft oboInOwl:hasDbXref icd11:LB73.13 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MESH:C537918 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref MedDRA:10068448 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref OMIM:228200 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref UMLS:C1856790 semapv:UnspecifiedMatching +Orphanet:2019 Femur-fibula-ulna complex oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching +Orphanet:202 Crandall syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:202 Crandall syndrome oboInOwl:hasDbXref UMLS:C0432348 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:255310 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:300580 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref OMIM:617760 semapv:UnspecifiedMatching +Orphanet:2020 Congenital fiber-type disproportion myopathy oboInOwl:hasDbXref UMLS:C0546264 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref MESH:C562524 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref OMIM:228520 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref OMIM:614524 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref UMLS:C0265282 semapv:UnspecifiedMatching +Orphanet:2021 Fibrochondrogenesis oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref ICD10:I42.4 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref ICD10:I42.4 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref MESH:D004695 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref MedDRA:10014663 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 semapv:UnspecifiedMatching +Orphanet:2022 Endocardial fibroelastosis oboInOwl:hasDbXref UMLS:C0014117 semapv:UnspecifiedMatching +Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MESH:D051677 semapv:UnspecifiedMatching +Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref MedDRA:10025552 semapv:UnspecifiedMatching +Orphanet:2023 Undifferentiated pleomorphic sarcoma oboInOwl:hasDbXref UMLS:C0334463 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref ICD10:K06.1 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref MESH:C562884 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref MedDRA:10088210 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:135300 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:605544 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:611010 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref OMIM:617626 semapv:UnspecifiedMatching +Orphanet:2024 Hereditary gingival fibromatosis oboInOwl:hasDbXref UMLS:C0399440 semapv:UnspecifiedMatching +Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:228560 semapv:UnspecifiedMatching +Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304501 semapv:UnspecifiedMatching +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref ICD10:L68.8 semapv:UnspecifiedMatching +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref OMIM:135400 semapv:UnspecifiedMatching +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C4274889 semapv:UnspecifiedMatching +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref MESH:C535886 semapv:UnspecifiedMatching +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref OMIM:135550 semapv:UnspecifiedMatching +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome oboInOwl:hasDbXref UMLS:C1851112 semapv:UnspecifiedMatching +Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching +Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semapv:UnspecifiedMatching +Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching +Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching +Orphanet:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching +Orphanet:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching +Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin oboInOwl:hasDbXref UMLS:C5680789 semapv:UnspecifiedMatching +Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5679782 semapv:UnspecifiedMatching +Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MESH:D005354 semapv:UnspecifiedMatching +Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MedDRA:10016632 semapv:UnspecifiedMatching +Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref OMIM:117600 semapv:UnspecifiedMatching +Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref UMLS:C0016057 semapv:UnspecifiedMatching +Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536515 semapv:UnspecifiedMatching +Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213010 semapv:UnspecifiedMatching +Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931226 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref MedDRA:10021240 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616371 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:616373 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:619611 semapv:UnspecifiedMatching +Orphanet:2032 Idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching +Orphanet:2034 Filariasis oboInOwl:hasDbXref ICD10:B74 semapv:UnspecifiedMatching +Orphanet:2034 Filariasis oboInOwl:hasDbXref ICD10:B74 semapv:UnspecifiedMatching +Orphanet:2034 Filariasis oboInOwl:hasDbXref MESH:D005368 semapv:UnspecifiedMatching +Orphanet:2034 Filariasis oboInOwl:hasDbXref MedDRA:10016674 semapv:UnspecifiedMatching +Orphanet:2034 Filariasis oboInOwl:hasDbXref UMLS:C0016085 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.0 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.0 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.1 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.1 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref ICD10:B74.2 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref MedDRA:10016675 semapv:UnspecifiedMatching +Orphanet:2035 Lymphatic filariasis oboInOwl:hasDbXref UMLS:C0013884 semapv:UnspecifiedMatching +Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref MESH:C536623 semapv:UnspecifiedMatching +Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref OMIM:181270 semapv:UnspecifiedMatching +Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS:C1867020 semapv:UnspecifiedMatching +Orphanet:2036 Scalp-ear-nipple syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref ICD10:Q21.4 semapv:UnspecifiedMatching +Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref MESH:C537782 semapv:UnspecifiedMatching +Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref UMLS:C5679821 semapv:UnspecifiedMatching +Orphanet:2037 Congenital aortopulmonary window oboInOwl:hasDbXref icd11:LA8B.0 semapv:UnspecifiedMatching +Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref MedDRA:10037332 semapv:UnspecifiedMatching +Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref OMIM:265140 semapv:UnspecifiedMatching +Orphanet:2038 Pulmonary arteriovenous malformation oboInOwl:hasDbXref UMLS:C0155675 semapv:UnspecifiedMatching +Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref UMLS:C5191839 semapv:UnspecifiedMatching +Orphanet:2039 Congenital systemic arteriovenous fistula oboInOwl:hasDbXref icd11:LA90.3Z semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:C565143 semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref MedDRA:10011384 semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C1852467 semapv:UnspecifiedMatching +Orphanet:204 Sporadic Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E00 semapv:UnspecifiedMatching +Orphanet:2040 Congenital respiratory-biliary fistula oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:2040 Congenital respiratory-biliary fistula oboInOwl:hasDbXref UMLS:C5231000 semapv:UnspecifiedMatching +Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref MedDRA:10069441 semapv:UnspecifiedMatching +Orphanet:2041 Coronary arterial fistula oboInOwl:hasDbXref UMLS:C0265898 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref MESH:C537062 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref MedDRA:10079943 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref OMIM:136140 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS:C0729582 semapv:UnspecifiedMatching +Orphanet:2044 Floating-Harbor syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref ICD10:L60.8 semapv:UnspecifiedMatching +Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref ICD10:L60.8 semapv:UnspecifiedMatching +Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref MESH:C537065 semapv:UnspecifiedMatching +Orphanet:2045 FLOTCH syndrome oboInOwl:hasDbXref UMLS:C2931411 semapv:UnspecifiedMatching +Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref MESH:C537066 semapv:UnspecifiedMatching +Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref OMIM:136300 semapv:UnspecifiedMatching +Orphanet:2047 Flynn-Aird syndrome oboInOwl:hasDbXref UMLS:C0343108 semapv:UnspecifiedMatching +Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref MESH:C537069 semapv:UnspecifiedMatching +Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref MedDRA:10083275 semapv:UnspecifiedMatching +Orphanet:2048 Foix-Chavany-Marie syndrome oboInOwl:hasDbXref UMLS:C2931412 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MESH:D003414 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref MedDRA:10011386 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:606785 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS:C5551003 semapv:UnspecifiedMatching +Orphanet:205 Crigler-Najjar syndrome oboInOwl:hasDbXref icd11:5C58.00 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref MESH:C535963 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:112240 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:616294 semapv:UnspecifiedMatching +Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref UMLS:C1862178 semapv:UnspecifiedMatching +Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref OMIM:229230 semapv:UnspecifiedMatching +Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref UMLS:C1856708 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref MESH:D058497 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref MedDRA:10080219 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref OMIM:219000 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref OMIM:617666 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref OMIM:617667 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref UMLS:C0265233 semapv:UnspecifiedMatching +Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref icd11:LD2H.0 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref MESH:C535483 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref MedDRA:10073655 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:277720 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching +Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref UMLS:C0265224 semapv:UnspecifiedMatching +Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching +Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1864825 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref MESH:C538068 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref MedDRA:10015487 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref OMIM:229800 semapv:UnspecifiedMatching +Orphanet:2056 Essential fructosuria oboInOwl:hasDbXref UMLS:C0268160 semapv:UnspecifiedMatching +Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref OMIM:210745 semapv:UnspecifiedMatching +Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref UMLS:C4303550 semapv:UnspecifiedMatching +Orphanet:2058 Fryns-Smeets-Thiry syndrome oboInOwl:hasDbXref UMLS:C5680810 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref MESH:C538070 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref MedDRA:10075223 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref OMIM:229850 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref UMLS:C0220730 semapv:UnspecifiedMatching +Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.0 semapv:UnspecifiedMatching +Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.1 semapv:UnspecifiedMatching +Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching +Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching +Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref UMLS:C4304839 semapv:UnspecifiedMatching +Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref MESH:C537318 semapv:UnspecifiedMatching +Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref OMIM:183300 semapv:UnspecifiedMatching +Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome oboInOwl:hasDbXref UMLS:C1866745 semapv:UnspecifiedMatching +Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref MESH:C536344 semapv:UnspecifiedMatching +Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref OMIM:192800 semapv:UnspecifiedMatching +Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome oboInOwl:hasDbXref UMLS:C4510303 semapv:UnspecifiedMatching +Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MedDRA:10075774 semapv:UnspecifiedMatching +Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching +Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref UMLS:C0751273 semapv:UnspecifiedMatching +Orphanet:206436 Infantile Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching +Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching +Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref UMLS:C0268252 semapv:UnspecifiedMatching +Orphanet:206443 Late-infantile/juvenile Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching +Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching +Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref UMLS:C5680793 semapv:UnspecifiedMatching +Orphanet:206448 Adult Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching +Orphanet:206470 Cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:206470 Cystadenoma of childhood oboInOwl:hasDbXref UMLS:C5679785 semapv:UnspecifiedMatching +Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching +Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching +Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref MESH:D018238 semapv:UnspecifiedMatching +Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref OMIM:424500 semapv:UnspecifiedMatching +Orphanet:206484 Gonadoblastoma oboInOwl:hasDbXref UMLS:C0206661 semapv:UnspecifiedMatching +Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching +Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching +Orphanet:206489 Malignant germ cell tumor of the vagina oboInOwl:hasDbXref UMLS:C4749402 semapv:UnspecifiedMatching +Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching +Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching +Orphanet:206492 Vulvovaginal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C4707823 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref MESH:C537548 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:251300 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:301006 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:617729 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:617730 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:617731 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618347 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618348 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:618349 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:619603 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIM:619609 semapv:UnspecifiedMatching +Orphanet:2065 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS:C0795949 semapv:UnspecifiedMatching +Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary oboInOwl:hasDbXref UMLS:C5679783 semapv:UnspecifiedMatching +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers oboInOwl:hasDbXref UMLS:C4707359 semapv:UnspecifiedMatching +Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref MESH:C566968 semapv:UnspecifiedMatching +Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref OMIM:611307 semapv:UnspecifiedMatching +Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 oboInOwl:hasDbXref UMLS:C1969785 semapv:UnspecifiedMatching +Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref MESH:C566912 semapv:UnspecifiedMatching +Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref OMIM:611588 semapv:UnspecifiedMatching +Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 oboInOwl:hasDbXref UMLS:C1969040 semapv:UnspecifiedMatching +Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref OMIM:613158 semapv:UnspecifiedMatching +Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 oboInOwl:hasDbXref UMLS:C3150418 semapv:UnspecifiedMatching +Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref OMIM:613157 semapv:UnspecifiedMatching +Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 oboInOwl:hasDbXref UMLS:C3150417 semapv:UnspecifiedMatching +Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching +Orphanet:206569 Immune-mediated necrotizing myopathy oboInOwl:hasDbXref UMLS:C3267047 semapv:UnspecifiedMatching +Orphanet:206572 Overlap myositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching +Orphanet:206572 Overlap myositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching +Orphanet:206572 Overlap myositis oboInOwl:hasDbXref UMLS:C5679784 semapv:UnspecifiedMatching +Orphanet:206575 Rippling muscle disease with myasthenia gravis oboInOwl:hasDbXref ICD10:G70.8 semapv:UnspecifiedMatching +Orphanet:206575 Rippling muscle disease with myasthenia gravis oboInOwl:hasDbXref ICD10:G70.8 semapv:UnspecifiedMatching +Orphanet:206575 Rippling muscle disease with myasthenia gravis oboInOwl:hasDbXref UMLS:C4749335 semapv:UnspecifiedMatching +Orphanet:206575 Rippling muscle disease with myasthenia gravis oboInOwl:hasDbXref icd11:8C60.Y semapv:UnspecifiedMatching +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref MESH:C567023 semapv:UnspecifiedMatching +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref UMLS:C1970211 semapv:UnspecifiedMatching +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref MESH:C564878 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref MedDRA:10077946 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref OMIM:263570 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref UMLS:C1849722 semapv:UnspecifiedMatching +Orphanet:206583 Adult polyglucosan body disease oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref ICD10:G63.1 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref MESH:D000077162 semapv:UnspecifiedMatching +Orphanet:206586 Neurolymphomatosis oboInOwl:hasDbXref UMLS:C4553088 semapv:UnspecifiedMatching +Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref MedDRA:10081726 semapv:UnspecifiedMatching +Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0456517 semapv:UnspecifiedMatching +Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref icd11:8C01.2 semapv:UnspecifiedMatching +Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref ICD10:R74.8 semapv:UnspecifiedMatching +Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref OMIM:123320 semapv:UnspecifiedMatching +Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase oboInOwl:hasDbXref UMLS:C4751434 semapv:UnspecifiedMatching +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref MESH:C535407 semapv:UnspecifiedMatching +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref OMIM:613163 semapv:UnspecifiedMatching +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency oboInOwl:hasDbXref UMLS:C0342708 semapv:UnspecifiedMatching +Orphanet:206613 Infectious disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C1278821 semapv:UnspecifiedMatching +Orphanet:206634 Genetic skeletal muscle disease oboInOwl:hasDbXref UMLS:C5680800 semapv:UnspecifiedMatching +Orphanet:206638 Acquired skeletal muscle disease oboInOwl:hasDbXref UMLS:C5680799 semapv:UnspecifiedMatching +Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref MESH:D009223 semapv:UnspecifiedMatching +Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref MedDRA:10068871 semapv:UnspecifiedMatching +Orphanet:206647 Myotonic dystrophy oboInOwl:hasDbXref UMLS:C0027126 semapv:UnspecifiedMatching +Orphanet:206650 Autosomal dominant distal myopathy oboInOwl:hasDbXref UMLS:C5680803 semapv:UnspecifiedMatching +Orphanet:206653 Autosomal recessive distal myopathy oboInOwl:hasDbXref UMLS:C5680801 semapv:UnspecifiedMatching +Orphanet:206656 Non-dystrophic myopathy oboInOwl:hasDbXref UMLS:C5680802 semapv:UnspecifiedMatching +Orphanet:206662 Inclusion myopathy oboInOwl:hasDbXref UMLS:C5680794 semapv:UnspecifiedMatching +Orphanet:2067 GAPO syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2067 GAPO syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2067 GAPO syndrome oboInOwl:hasDbXref MESH:C535642 semapv:UnspecifiedMatching +Orphanet:2067 GAPO syndrome oboInOwl:hasDbXref OMIM:230740 semapv:UnspecifiedMatching +Orphanet:2067 GAPO syndrome oboInOwl:hasDbXref UMLS:C0406723 semapv:UnspecifiedMatching +Orphanet:2067 GAPO syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:206701 Bulbospinal muscular atrophy oboInOwl:hasDbXref UMLS:C0393547 semapv:UnspecifiedMatching +Orphanet:206704 Bulbospinal muscular atrophy of childhood oboInOwl:hasDbXref UMLS:C5680797 semapv:UnspecifiedMatching +Orphanet:206707 Bulbospinal muscular atrophy of adult oboInOwl:hasDbXref UMLS:C5680796 semapv:UnspecifiedMatching +Orphanet:206710 Generalized bulbospinal muscular atrophy oboInOwl:hasDbXref UMLS:C5680795 semapv:UnspecifiedMatching +Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref MESH:C535651 semapv:UnspecifiedMatching +Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref OMIM:137270 semapv:UnspecifiedMatching +Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref UMLS:C1850899 semapv:UnspecifiedMatching +Orphanet:206953 Muscular lipidosis oboInOwl:hasDbXref MESH:C562935 semapv:UnspecifiedMatching +Orphanet:206953 Muscular lipidosis oboInOwl:hasDbXref UMLS:C0410214 semapv:UnspecifiedMatching +Orphanet:206959 Muscular glycogenosis oboInOwl:hasDbXref UMLS:C5679786 semapv:UnspecifiedMatching +Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref MESH:D017240 semapv:UnspecifiedMatching +Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref MedDRA:10027710 semapv:UnspecifiedMatching +Orphanet:206966 Mitochondrial myopathy oboInOwl:hasDbXref UMLS:C0162670 semapv:UnspecifiedMatching +Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching +Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref MedDRA:10028658 semapv:UnspecifiedMatching +Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref UMLS:C5680798 semapv:UnspecifiedMatching +Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MESH:D009224 semapv:UnspecifiedMatching +Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MedDRA:10028655 semapv:UnspecifiedMatching +Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref MESH:D010245 semapv:UnspecifiedMatching +Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref MedDRA:10016208 semapv:UnspecifiedMatching +Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref icd11:8C74.1 semapv:UnspecifiedMatching +Orphanet:206982 Muscular tumor oboInOwl:hasDbXref MESH:D019042 semapv:UnspecifiedMatching +Orphanet:206982 Muscular tumor oboInOwl:hasDbXref MedDRA:10070956 semapv:UnspecifiedMatching +Orphanet:206982 Muscular tumor oboInOwl:hasDbXref UMLS:C0282606 semapv:UnspecifiedMatching +Orphanet:206988 Infectious, fungal or parasitic myopathy oboInOwl:hasDbXref UMLS:C5680819 semapv:UnspecifiedMatching +Orphanet:206991 Viral myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching +Orphanet:206991 Viral myositis oboInOwl:hasDbXref MedDRA:10051512 semapv:UnspecifiedMatching +Orphanet:206991 Viral myositis oboInOwl:hasDbXref UMLS:C0150005 semapv:UnspecifiedMatching +Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching +Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref MedDRA:10085526 semapv:UnspecifiedMatching +Orphanet:206994 Bacterial myositis oboInOwl:hasDbXref UMLS:C0263979 semapv:UnspecifiedMatching +Orphanet:206997 Parasitic myositis oboInOwl:hasDbXref UMLS:C0263997 semapv:UnspecifiedMatching +Orphanet:207 Crouzon syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:207 Crouzon syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:207 Crouzon syndrome oboInOwl:hasDbXref OMIM:123500 semapv:UnspecifiedMatching +Orphanet:207 Crouzon syndrome oboInOwl:hasDbXref icd11:LD24.G1 semapv:UnspecifiedMatching +Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MESH:C535952 semapv:UnspecifiedMatching +Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref MedDRA:10017902 semapv:UnspecifiedMatching +Orphanet:2070 Eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS:C1262481 semapv:UnspecifiedMatching +Orphanet:207000 Fungal myositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching +Orphanet:207000 Fungal myositis oboInOwl:hasDbXref MedDRA:10086251 semapv:UnspecifiedMatching +Orphanet:207000 Fungal myositis oboInOwl:hasDbXref UMLS:C0410251 semapv:UnspecifiedMatching +Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly oboInOwl:hasDbXref UMLS:C5680818 semapv:UnspecifiedMatching +Orphanet:207015 Rare hereditary disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680817 semapv:UnspecifiedMatching +Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680814 semapv:UnspecifiedMatching +Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680813 semapv:UnspecifiedMatching +Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680816 semapv:UnspecifiedMatching +Orphanet:207028 Cerebellar ataxia with peripheral neuropathy oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:207028 Cerebellar ataxia with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680815 semapv:UnspecifiedMatching +Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C5679791 semapv:UnspecifiedMatching +Orphanet:207046 Malignant lymphoma with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680812 semapv:UnspecifiedMatching +Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases oboInOwl:hasDbXref UMLS:C5680807 semapv:UnspecifiedMatching +Orphanet:207052 Qualitative or quantitative defects of sarcoglycan oboInOwl:hasDbXref MESH:D058088 semapv:UnspecifiedMatching +Orphanet:207052 Qualitative or quantitative defects of sarcoglycan oboInOwl:hasDbXref MedDRA:10083931 semapv:UnspecifiedMatching +Orphanet:207052 Qualitative or quantitative defects of sarcoglycan oboInOwl:hasDbXref UMLS:C2936331 semapv:UnspecifiedMatching +Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan oboInOwl:hasDbXref UMLS:C5680808 semapv:UnspecifiedMatching +Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan oboInOwl:hasDbXref UMLS:C5680809 semapv:UnspecifiedMatching +Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan oboInOwl:hasDbXref UMLS:C5680805 semapv:UnspecifiedMatching +Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan oboInOwl:hasDbXref UMLS:C5680806 semapv:UnspecifiedMatching +Orphanet:207073 Qualitative or quantitative defects of dysferlin oboInOwl:hasDbXref MESH:C537995 semapv:UnspecifiedMatching +Orphanet:207073 Qualitative or quantitative defects of dysferlin oboInOwl:hasDbXref UMLS:C2931687 semapv:UnspecifiedMatching +Orphanet:207078 Qualitative or quantitative defects of caveolin-3 oboInOwl:hasDbXref UMLS:C5679790 semapv:UnspecifiedMatching +Orphanet:207085 Qualitative or quantitative defects of dystrophin oboInOwl:hasDbXref UMLS:C5679787 semapv:UnspecifiedMatching +Orphanet:207090 Qualitative or quantitative defects of collagen 6 oboInOwl:hasDbXref UMLS:C5680804 semapv:UnspecifiedMatching +Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy oboInOwl:hasDbXref UMLS:C5679788 semapv:UnspecifiedMatching +Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 oboInOwl:hasDbXref UMLS:C5679789 semapv:UnspecifiedMatching +Orphanet:207101 Qualitative or quantitative defects of perlecan oboInOwl:hasDbXref UMLS:C5680831 semapv:UnspecifiedMatching +Orphanet:207104 Qualitative or quantitative defects of calpain oboInOwl:hasDbXref UMLS:C5680830 semapv:UnspecifiedMatching +Orphanet:207107 Qualitative or quantitative defects of TRIM32 oboInOwl:hasDbXref UMLS:C5680829 semapv:UnspecifiedMatching +Orphanet:207110 Qualitative or quantitative defects of myotubularin oboInOwl:hasDbXref UMLS:C5680828 semapv:UnspecifiedMatching +Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan oboInOwl:hasDbXref UMLS:C5679795 semapv:UnspecifiedMatching +Orphanet:207119 Qualitative or quantitative defects of FKRP oboInOwl:hasDbXref UMLS:C5680827 semapv:UnspecifiedMatching +Orphanet:207122 Qualitative or quantitative defects of fukutin oboInOwl:hasDbXref UMLS:C5681836 semapv:UnspecifiedMatching +Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching +Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome oboInOwl:hasDbXref UMLS:C2931585 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:161400 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:605841 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:609039 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612417 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612851 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614250 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref UMLS:C4543926 semapv:UnspecifiedMatching +Orphanet:2074 Gemignani syndrome oboInOwl:hasDbXref MESH:C537678 semapv:UnspecifiedMatching +Orphanet:2074 Gemignani syndrome oboInOwl:hasDbXref UMLS:C2931587 semapv:UnspecifiedMatching +Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref MESH:C537683 semapv:UnspecifiedMatching +Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref OMIM:231060 semapv:UnspecifiedMatching +Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref UMLS:C1856466 semapv:UnspecifiedMatching +Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching +Orphanet:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching +Orphanet:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching +Orphanet:2076 X-linked intellectual disability-epilepsy syndrome oboInOwl:hasDbXref UMLS:C5680771 semapv:UnspecifiedMatching +Orphanet:2077 German syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2077 German syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2077 German syndrome oboInOwl:hasDbXref MESH:C562543 semapv:UnspecifiedMatching +Orphanet:2077 German syndrome oboInOwl:hasDbXref OMIM:231080 semapv:UnspecifiedMatching +Orphanet:2077 German syndrome oboInOwl:hasDbXref UMLS:C3887495 semapv:UnspecifiedMatching +Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching +Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching +Orphanet:2078 Geroderma osteodysplastica oboInOwl:hasDbXref UMLS:C0432255 semapv:UnspecifiedMatching +Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref MESH:C537714 semapv:UnspecifiedMatching +Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref OMIM:247990 semapv:UnspecifiedMatching +Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome oboInOwl:hasDbXref UMLS:C0796024 semapv:UnspecifiedMatching +Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref MESH:C537679 semapv:UnspecifiedMatching +Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching +Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome oboInOwl:hasDbXref UMLS:C2931588 semapv:UnspecifiedMatching +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref OMIM:612691 semapv:UnspecifiedMatching +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref UMLS:C5437680 semapv:UnspecifiedMatching +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:208444 Bilateral frontal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:208444 Bilateral frontal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:208444 Bilateral frontal polymicrogyria oboInOwl:hasDbXref UMLS:C5437679 semapv:UnspecifiedMatching +Orphanet:208444 Bilateral frontal polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref UMLS:C5139324 semapv:UnspecifiedMatching +Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref OMIM:137763 semapv:UnspecifiedMatching +Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref UMLS:C4304308 semapv:UnspecifiedMatching +Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref MESH:C537206 semapv:UnspecifiedMatching +Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref OMIM:117360 semapv:UnspecifiedMatching +Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref UMLS:C1861732 semapv:UnspecifiedMatching +Orphanet:208524 Herpetiform pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:208524 Herpetiform pemphigus oboInOwl:hasDbXref UMLS:C4749730 semapv:UnspecifiedMatching +Orphanet:208593 Genetic hypoparathyroidism oboInOwl:hasDbXref UMLS:C5680825 semapv:UnspecifiedMatching +Orphanet:208596 Genetic hyperparathyroidism oboInOwl:hasDbXref UMLS:C5680826 semapv:UnspecifiedMatching +Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching +Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref MedDRA:10073338 semapv:UnspecifiedMatching +Orphanet:2086 Optic pathway glioma oboInOwl:hasDbXref UMLS:C0796418 semapv:UnspecifiedMatching +Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref MESH:D056587 semapv:UnspecifiedMatching +Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref MedDRA:10068850 semapv:UnspecifiedMatching +Orphanet:208650 NLRP3-associated autoinflammatory disease oboInOwl:hasDbXref UMLS:C2316212 semapv:UnspecifiedMatching +Orphanet:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref MESH:C536825 semapv:UnspecifiedMatching +Orphanet:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome oboInOwl:hasDbXref UMLS:C1841989 semapv:UnspecifiedMatching +Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref OMIM:227810 semapv:UnspecifiedMatching +Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref UMLS:C3495427 semapv:UnspecifiedMatching +Orphanet:2088 Fanconi-Bickel syndrome oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref OMIM:240600 semapv:UnspecifiedMatching +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C4510753 semapv:UnspecifiedMatching +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:208978 Chronic polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C5680824 semapv:UnspecifiedMatching +Orphanet:208984 Acquired sensory ganglionopathy oboInOwl:hasDbXref UMLS:C5679794 semapv:UnspecifiedMatching +Orphanet:208989 Non-paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:208989 Non-paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:208989 Non-paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref UMLS:C5679793 semapv:UnspecifiedMatching +Orphanet:208999 Paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:208999 Paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:208999 Paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref UMLS:C5679792 semapv:UnspecifiedMatching +Orphanet:208999 Paraneoplastic sensory ganglionopathy oboInOwl:hasDbXref icd11:8E4A.1 semapv:UnspecifiedMatching +Orphanet:209 Cutis laxa oboInOwl:hasDbXref MESH:D003483 semapv:UnspecifiedMatching +Orphanet:209 Cutis laxa oboInOwl:hasDbXref MedDRA:10011692 semapv:UnspecifiedMatching +Orphanet:209 Cutis laxa oboInOwl:hasDbXref UMLS:C0010495 semapv:UnspecifiedMatching +Orphanet:209 Cutis laxa oboInOwl:hasDbXref icd11:EE41.0 semapv:UnspecifiedMatching +Orphanet:2090 GMS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2090 GMS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2090 GMS syndrome oboInOwl:hasDbXref MESH:C564214 semapv:UnspecifiedMatching +Orphanet:2090 GMS syndrome oboInOwl:hasDbXref OMIM:138770 semapv:UnspecifiedMatching +Orphanet:2090 GMS syndrome oboInOwl:hasDbXref UMLS:C1841854 semapv:UnspecifiedMatching +Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy oboInOwl:hasDbXref UMLS:C5680822 semapv:UnspecifiedMatching +Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680820 semapv:UnspecifiedMatching +Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy oboInOwl:hasDbXref UMLS:C5680821 semapv:UnspecifiedMatching +Orphanet:209013 Acquired amyloid peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680847 semapv:UnspecifiedMatching +Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680846 semapv:UnspecifiedMatching +Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680848 semapv:UnspecifiedMatching +Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase oboInOwl:hasDbXref UMLS:C5679796 semapv:UnspecifiedMatching +Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like oboInOwl:hasDbXref UMLS:C5680850 semapv:UnspecifiedMatching +Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 oboInOwl:hasDbXref UMLS:C5680849 semapv:UnspecifiedMatching +Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 oboInOwl:hasDbXref UMLS:C5680852 semapv:UnspecifiedMatching +Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins oboInOwl:hasDbXref UMLS:C5680851 semapv:UnspecifiedMatching +Orphanet:209041 Qualitative or quantitative defects of desmin oboInOwl:hasDbXref UMLS:C5680839 semapv:UnspecifiedMatching +Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin oboInOwl:hasDbXref UMLS:C5680838 semapv:UnspecifiedMatching +Orphanet:209047 Qualitative or quantitative defects of filamin C oboInOwl:hasDbXref UMLS:C5680841 semapv:UnspecifiedMatching +Orphanet:209050 Qualitative or quantitative defects of protein ZASP oboInOwl:hasDbXref UMLS:C5680840 semapv:UnspecifiedMatching +Orphanet:209053 Qualitative or quantitative defects of titin oboInOwl:hasDbXref UMLS:C5680843 semapv:UnspecifiedMatching +Orphanet:209056 Qualitative or quantitative defects of telethonin oboInOwl:hasDbXref UMLS:C5680842 semapv:UnspecifiedMatching +Orphanet:209059 Qualitative or quantitative defects of alpha-actin oboInOwl:hasDbXref UMLS:C5680845 semapv:UnspecifiedMatching +Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref MESH:C535986 semapv:UnspecifiedMatching +Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref OMIM:138790 semapv:UnspecifiedMatching +Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome oboInOwl:hasDbXref UMLS:C1841853 semapv:UnspecifiedMatching +Orphanet:209182 Qualitative or quantitative defects of nebulin oboInOwl:hasDbXref UMLS:C5680844 semapv:UnspecifiedMatching +Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) oboInOwl:hasDbXref UMLS:C5680832 semapv:UnspecifiedMatching +Orphanet:209188 Qualitative or quantitative defects of emerin oboInOwl:hasDbXref UMLS:C5680833 semapv:UnspecifiedMatching +Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 oboInOwl:hasDbXref UMLS:C5680834 semapv:UnspecifiedMatching +Orphanet:209196 Qualitative or quantitative defects of plectin oboInOwl:hasDbXref UMLS:C5680835 semapv:UnspecifiedMatching +Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 oboInOwl:hasDbXref UMLS:C5680836 semapv:UnspecifiedMatching +Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching +Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching +Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref UMLS:C0016395 semapv:UnspecifiedMatching +Orphanet:2092 Focal dermal hypoplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - oboInOwl:hasDbXref UMLS:C5680837 semapv:UnspecifiedMatching +Orphanet:209224 Myotilinopathy oboInOwl:hasDbXref MESH:C563775 semapv:UnspecifiedMatching +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref MESH:C566673 semapv:UnspecifiedMatching +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:182980 semapv:UnspecifiedMatching +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1854058 semapv:UnspecifiedMatching +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.Y semapv:UnspecifiedMatching +Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref MESH:C563560 semapv:UnspecifiedMatching +Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref UMLS:C4749821 semapv:UnspecifiedMatching +Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref OMIM:612289 semapv:UnspecifiedMatching +Orphanet:2095 Gorlin-Chaudhry-Moss syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2097 Grant syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2097 Grant syndrome oboInOwl:hasDbXref MESH:C537293 semapv:UnspecifiedMatching +Orphanet:2097 Grant syndrome oboInOwl:hasDbXref OMIM:138930 semapv:UnspecifiedMatching +Orphanet:2097 Grant syndrome oboInOwl:hasDbXref UMLS:C1841835 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref MESH:C537915 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:200700 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching +Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref UMLS:C0265260 semapv:UnspecifiedMatching +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 semapv:UnspecifiedMatching +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 semapv:UnspecifiedMatching +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref MESH:C563710 semapv:UnspecifiedMatching +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref UMLS:C1836081 semapv:UnspecifiedMatching +Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C4751204 semapv:UnspecifiedMatching +Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref MESH:C567034 semapv:UnspecifiedMatching +Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref OMIM:610978 semapv:UnspecifiedMatching +Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref UMLS:C1970269 semapv:UnspecifiedMatching +Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching +Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref UMLS:C0750927 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MESH:C563195 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MedDRA:10073134 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 semapv:UnspecifiedMatching +Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1275278 semapv:UnspecifiedMatching +Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching +Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching +Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref OMIM:215600 semapv:UnspecifiedMatching +Orphanet:209919 Idiopathic copper-associated cirrhosis oboInOwl:hasDbXref UMLS:C4274853 semapv:UnspecifiedMatching +Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref OMIM:610356 semapv:UnspecifiedMatching +Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref UMLS:C1835897 semapv:UnspecifiedMatching +Orphanet:209932 Cone dystrophy with supernormal rod response oboInOwl:hasDbXref icd11:9B7Y semapv:UnspecifiedMatching +Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref MedDRA:10073929 semapv:UnspecifiedMatching +Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref UMLS:C3665812 semapv:UnspecifiedMatching +Orphanet:209943 IRVAN syndrome oboInOwl:hasDbXref icd11:9B7Y semapv:UnspecifiedMatching +Orphanet:209951 Autosomal spastic paraplegia type 18 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:209951 Autosomal spastic paraplegia type 18 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:209951 Autosomal spastic paraplegia type 18 oboInOwl:hasDbXref MESH:C567628 semapv:UnspecifiedMatching +Orphanet:209951 Autosomal spastic paraplegia type 18 oboInOwl:hasDbXref OMIM:611225 semapv:UnspecifiedMatching +Orphanet:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref ICD10:H31.8 semapv:UnspecifiedMatching +Orphanet:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref ICD10:H31.8 semapv:UnspecifiedMatching +Orphanet:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref UMLS:C4755300 semapv:UnspecifiedMatching +Orphanet:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref icd11:9B6Y semapv:UnspecifiedMatching +Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching +Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching +Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref UMLS:C0339320 semapv:UnspecifiedMatching +Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref icd11:9A96.Y semapv:UnspecifiedMatching +Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref ICD10:K62.6 semapv:UnspecifiedMatching +Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref ICD10:K62.6 semapv:UnspecifiedMatching +Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref UMLS:C4274343 semapv:UnspecifiedMatching +Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref icd11:DB33.0 semapv:UnspecifiedMatching +Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref MESH:C567207 semapv:UnspecifiedMatching +Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref OMIM:612656 semapv:UnspecifiedMatching +Orphanet:209967 Episodic ataxia type 6 oboInOwl:hasDbXref UMLS:C2675211 semapv:UnspecifiedMatching +Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref MESH:C567459 semapv:UnspecifiedMatching +Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref OMIM:611907 semapv:UnspecifiedMatching +Orphanet:209970 Episodic ataxia type 7 oboInOwl:hasDbXref UMLS:C2677843 semapv:UnspecifiedMatching +Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G81.9 semapv:UnspecifiedMatching +Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G81.9 semapv:UnspecifiedMatching +Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood oboInOwl:hasDbXref UMLS:C4749822 semapv:UnspecifiedMatching +Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching +Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref MESH:C562385 semapv:UnspecifiedMatching +Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching +Orphanet:209981 IRIDA syndrome oboInOwl:hasDbXref UMLS:C0085576 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref UMLS:C5679798 semapv:UnspecifiedMatching +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder oboInOwl:hasDbXref icd11:2C94.2 semapv:UnspecifiedMatching +Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching +Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching +Orphanet:210 Cyclosporiasis oboInOwl:hasDbXref UMLS:C4274225 semapv:UnspecifiedMatching +Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref MESH:C537621 semapv:UnspecifiedMatching +Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref OMIM:233810 semapv:UnspecifiedMatching +Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref UMLS:C2931551 semapv:UnspecifiedMatching +Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref OMIM:611497 semapv:UnspecifiedMatching +Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref UMLS:C5679797 semapv:UnspecifiedMatching +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref MESH:C557815 semapv:UnspecifiedMatching +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref OMIM:612852 semapv:UnspecifiedMatching +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref UMLS:C2748507 semapv:UnspecifiedMatching +Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching +Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref MESH:C536590 semapv:UnspecifiedMatching +Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref OMIM:265380 semapv:UnspecifiedMatching +Orphanet:210122 Congenital alveolar capillary dysplasia oboInOwl:hasDbXref UMLS:C2677362 semapv:UnspecifiedMatching +Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref MESH:C536479 semapv:UnspecifiedMatching +Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref OMIM:276880 semapv:UnspecifiedMatching +Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref UMLS:C0268514 semapv:UnspecifiedMatching +Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref UMLS:C4751169 semapv:UnspecifiedMatching +Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref UMLS:C4510085 semapv:UnspecifiedMatching +Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching +Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:612900 semapv:UnspecifiedMatching +Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref OMIM:617008 semapv:UnspecifiedMatching +Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref UMLS:C5190693 semapv:UnspecifiedMatching +Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref OMIM:612938 semapv:UnspecifiedMatching +Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref UMLS:C4755275 semapv:UnspecifiedMatching +Orphanet:210144 Lethal polymalformative syndrome, Boissel type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching +Orphanet:210159 Adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0279607 semapv:UnspecifiedMatching +Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref OMIM:612540 semapv:UnspecifiedMatching +Orphanet:210163 Congenital lethal myopathy, Compton-North type oboInOwl:hasDbXref UMLS:C4750773 semapv:UnspecifiedMatching +Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref MESH:C562656 semapv:UnspecifiedMatching +Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching +Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref UMLS:C0268467 semapv:UnspecifiedMatching +Orphanet:2102 GTP cyclohydrolase I deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching +Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching +Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref ICD10:H81.8 semapv:UnspecifiedMatching +Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref MESH:C537840 semapv:UnspecifiedMatching +Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref MedDRA:10064924 semapv:UnspecifiedMatching +Orphanet:210272 Mal de débarquement oboInOwl:hasDbXref UMLS:C1608983 semapv:UnspecifiedMatching +Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MESH:D020275 semapv:UnspecifiedMatching +Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref MedDRA:10018767 semapv:UnspecifiedMatching +Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C0018378 semapv:UnspecifiedMatching +Orphanet:2103 Guillain-Barré syndrome oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome oboInOwl:hasDbXref UMLS:C4518558 semapv:UnspecifiedMatching +Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:605309 semapv:UnspecifiedMatching +Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching +Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref UMLS:C5190809 semapv:UnspecifiedMatching +Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref MESH:C538002 semapv:UnspecifiedMatching +Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref OMIM:607488 semapv:UnspecifiedMatching +Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref UMLS:C1843786 semapv:UnspecifiedMatching +Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref MESH:C567430 semapv:UnspecifiedMatching +Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref OMIM:612067 semapv:UnspecifiedMatching +Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref UMLS:C2677567 semapv:UnspecifiedMatching +Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching +Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching +Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref UMLS:C4706319 semapv:UnspecifiedMatching +Orphanet:210581 Temporomandibular joint anomaly oboInOwl:hasDbXref icd11:DA0E.8 semapv:UnspecifiedMatching +Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref UMLS:C1304508 semapv:UnspecifiedMatching +Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref icd11:2F2Y semapv:UnspecifiedMatching +Orphanet:210589 Infantile hemangioma of rare localization oboInOwl:hasDbXref UMLS:C3839613 semapv:UnspecifiedMatching +Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref OMIM:234250 semapv:UnspecifiedMatching +Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref UMLS:C0795966 semapv:UnspecifiedMatching +Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref MESH:D006210 semapv:UnspecifiedMatching +Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching +Orphanet:2108 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS:C0018522 semapv:UnspecifiedMatching +Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref MESH:C538210 semapv:UnspecifiedMatching +Orphanet:2109 Hallermann-Streiff-like syndrome oboInOwl:hasDbXref UMLS:C2931775 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref MESH:C536611 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref OMIM:132700 semapv:UnspecifiedMatching +Orphanet:211 Familial cylindromatosis oboInOwl:hasDbXref UMLS:C1851526 semapv:UnspecifiedMatching +Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref MESH:C536885 semapv:UnspecifiedMatching +Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref OMIM:234280 semapv:UnspecifiedMatching +Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C1856197 semapv:UnspecifiedMatching +Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref MESH:C575214 semapv:UnspecifiedMatching +Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref OMIM:613371 semapv:UnspecifiedMatching +Orphanet:211017 Spinocerebellar ataxia type 30 oboInOwl:hasDbXref UMLS:C2936793 semapv:UnspecifiedMatching +Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C5680856 semapv:UnspecifiedMatching +Orphanet:211047 Specific learning disability oboInOwl:hasDbXref UMLS:C4025790 semapv:UnspecifiedMatching +Orphanet:211053 Specific language disorder oboInOwl:hasDbXref MESH:D000080888 semapv:UnspecifiedMatching +Orphanet:211053 Specific language disorder oboInOwl:hasDbXref UMLS:C0454651 semapv:UnspecifiedMatching +Orphanet:211062 Hereditary episodic ataxia oboInOwl:hasDbXref MESH:C580065 semapv:UnspecifiedMatching +Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref MESH:C566601 semapv:UnspecifiedMatching +Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref OMIM:613855 semapv:UnspecifiedMatching +Orphanet:211067 Episodic ataxia type 5 oboInOwl:hasDbXref UMLS:C1866039 semapv:UnspecifiedMatching +Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref MESH:C537292 semapv:UnspecifiedMatching +Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref UMLS:C2931468 semapv:UnspecifiedMatching +Orphanet:2111 Cystic hamartoma of lung and kidney oboInOwl:hasDbXref icd11:2F00.Y semapv:UnspecifiedMatching +Orphanet:211237 Rare vascular tumor oboInOwl:hasDbXref UMLS:C5680855 semapv:UnspecifiedMatching +Orphanet:211240 Genetic vascular anomaly oboInOwl:hasDbXref UMLS:C5680854 semapv:UnspecifiedMatching +Orphanet:211243 Simple vascular malformation oboInOwl:hasDbXref UMLS:C5680861 semapv:UnspecifiedMatching +Orphanet:211247 Rare capillary malformation oboInOwl:hasDbXref UMLS:C5680860 semapv:UnspecifiedMatching +Orphanet:211252 Rare venous malformation oboInOwl:hasDbXref MedDRA:10025532 semapv:UnspecifiedMatching +Orphanet:211252 Rare venous malformation oboInOwl:hasDbXref UMLS:C5680859 semapv:UnspecifiedMatching +Orphanet:211255 Rare lymphatic system anomaly oboInOwl:hasDbXref UMLS:C5680858 semapv:UnspecifiedMatching +Orphanet:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MESH:D001165 semapv:UnspecifiedMatching +Orphanet:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MedDRA:10003193 semapv:UnspecifiedMatching +Orphanet:211266 Rare arteriovenous malformation oboInOwl:hasDbXref UMLS:C5680857 semapv:UnspecifiedMatching +Orphanet:211277 Complex vascular malformation with associated anomalies oboInOwl:hasDbXref UMLS:C5679799 semapv:UnspecifiedMatching +Orphanet:2113 Congenital hypothalamic hamartoma syndrome oboInOwl:hasDbXref OMIM:241800 semapv:UnspecifiedMatching +Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 semapv:UnspecifiedMatching +Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 semapv:UnspecifiedMatching +Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching +Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching +Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref UMLS:C1840572 semapv:UnspecifiedMatching +Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref MESH:C535635 semapv:UnspecifiedMatching +Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref OMIM:601095 semapv:UnspecifiedMatching +Orphanet:2115 Harrod syndrome oboInOwl:hasDbXref UMLS:C0795970 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref MESH:D006250 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref MedDRA:10019165 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref OMIM:234500 semapv:UnspecifiedMatching +Orphanet:2116 Hartnup disease oboInOwl:hasDbXref UMLS:C0018609 semapv:UnspecifiedMatching +Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref MESH:C564484 semapv:UnspecifiedMatching +Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref OMIM:615465 semapv:UnspecifiedMatching +Orphanet:2117 Hartsfield syndrome oboInOwl:hasDbXref UMLS:C1845146 semapv:UnspecifiedMatching +Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref MESH:C535845 semapv:UnspecifiedMatching +Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref OMIM:140350 semapv:UnspecifiedMatching +Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref UMLS:C2931042 semapv:UnspecifiedMatching +Orphanet:2118 Hawkinsinuria oboInOwl:hasDbXref icd11:5C50.1Y semapv:UnspecifiedMatching +Orphanet:2119 HEC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2119 HEC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2119 HEC syndrome oboInOwl:hasDbXref MESH:C535855 semapv:UnspecifiedMatching +Orphanet:2119 HEC syndrome oboInOwl:hasDbXref OMIM:600559 semapv:UnspecifiedMatching +Orphanet:2119 HEC syndrome oboInOwl:hasDbXref UMLS:C1833607 semapv:UnspecifiedMatching +Orphanet:212 Cystathioninuria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:212 Cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:UnspecifiedMatching +Orphanet:212 Cystathioninuria oboInOwl:hasDbXref OMIM:219500 semapv:UnspecifiedMatching +Orphanet:212 Cystathioninuria oboInOwl:hasDbXref UMLS:C0220993 semapv:UnspecifiedMatching +Orphanet:212 Cystathioninuria oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref MESH:C537007 semapv:UnspecifiedMatching +Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1367420 semapv:UnspecifiedMatching +Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref icd11:XH6PA4 semapv:UnspecifiedMatching +Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref UMLS:C0474965 semapv:UnspecifiedMatching +Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching +Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching +Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref UMLS:C0472694 semapv:UnspecifiedMatching +Orphanet:2125 Sacral hemangiomas-multiple congenital abnormalities syndrome oboInOwl:hasDbXref UMLS:C2931443 semapv:UnspecifiedMatching +Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref MESH:D006393 semapv:UnspecifiedMatching +Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref MedDRA:10018825 semapv:UnspecifiedMatching +Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref OMIM:234820 semapv:UnspecifiedMatching +Orphanet:2126 Solitary fibrous tumor oboInOwl:hasDbXref UMLS:C5679827 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref MESH:C565524 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref MedDRA:10019463 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref OMIM:235000 semapv:UnspecifiedMatching +Orphanet:2128 Isolated hemihyperplasia oboInOwl:hasDbXref UMLS:C1856184 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref MESH:D003554 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref MedDRA:10011777 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref UMLS:C4316899 semapv:UnspecifiedMatching +Orphanet:213 Cystinosis oboInOwl:hasDbXref icd11:5C60.1 semapv:UnspecifiedMatching +Orphanet:2130 Hemimelia oboInOwl:hasDbXref MedDRA:10019464 semapv:UnspecifiedMatching +Orphanet:2130 Hemimelia oboInOwl:hasDbXref UMLS:C0018987 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MESH:C536589 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref MedDRA:10077948 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 semapv:UnspecifiedMatching +Orphanet:2131 Alternating hemiplegia of childhood oboInOwl:hasDbXref UMLS:C0338488 semapv:UnspecifiedMatching +Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 semapv:UnspecifiedMatching +Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref MedDRA:10018883 semapv:UnspecifiedMatching +Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref UMLS:C0019021 semapv:UnspecifiedMatching +Orphanet:2132 Hemoglobin C disease oboInOwl:hasDbXref icd11:3A51.5 semapv:UnspecifiedMatching +Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref MedDRA:10053215 semapv:UnspecifiedMatching +Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref UMLS:C0238159 semapv:UnspecifiedMatching +Orphanet:2133 Hemoglobin E disease oboInOwl:hasDbXref icd11:3A51.A semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D59.3 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D59.3 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref MESH:D065766 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref MedDRA:10079840 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612922 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612923 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612924 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612925 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:612926 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching +Orphanet:2134 Atypical hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C2931788 semapv:UnspecifiedMatching +Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref OMIM:248910 semapv:UnspecifiedMatching +Orphanet:2135 Hennekam-Beemer syndrome oboInOwl:hasDbXref UMLS:C4302582 semapv:UnspecifiedMatching +Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref MESH:D010051 semapv:UnspecifiedMatching +Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref MedDRA:10033128 semapv:UnspecifiedMatching +Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref UMLS:C1140680 semapv:UnspecifiedMatching +Orphanet:213500 Ovarian cancer oboInOwl:hasDbXref icd11:2C73 semapv:UnspecifiedMatching +Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref MedDRA:10051938 semapv:UnspecifiedMatching +Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C0948216 semapv:UnspecifiedMatching +Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref UMLS:C0392998 semapv:UnspecifiedMatching +Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C4749652 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching +Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref UMLS:C5680864 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref MedDRA:10073100 semapv:UnspecifiedMatching +Orphanet:213531 Metaplastic carcinoma of the breast oboInOwl:hasDbXref UMLS:C1334708 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref UMLS:C4274421 semapv:UnspecifiedMatching +Orphanet:213557 Salivary gland type cancer of the breast oboInOwl:hasDbXref icd11:2C60 semapv:UnspecifiedMatching +Orphanet:213564 Rare uterine cancer oboInOwl:hasDbXref UMLS:C5679800 semapv:UnspecifiedMatching +Orphanet:213569 Rare cancer of corpus uteri oboInOwl:hasDbXref UMLS:C5679801 semapv:UnspecifiedMatching +Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri oboInOwl:hasDbXref UMLS:C5679803 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref MESH:C537255 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:235510 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:616006 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref OMIM:618154 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref UMLS:C0340834 semapv:UnspecifiedMatching +Orphanet:2136 Hennekam syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213600 Adenosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4707554 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213605 Carcinofibroma of the corpus uteri oboInOwl:hasDbXref UMLS:C4755313 semapv:UnspecifiedMatching +Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching +Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching +Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C1704376 semapv:UnspecifiedMatching +Orphanet:213610 Carcinosarcoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.43 semapv:UnspecifiedMatching +Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4706451 semapv:UnspecifiedMatching +Orphanet:213615 Rhabdomyosarcoma of the corpus uteri oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching +Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref MedDRA:10039497 semapv:UnspecifiedMatching +Orphanet:213620 Sarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0338113 semapv:UnspecifiedMatching +Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref MedDRA:10046799 semapv:UnspecifiedMatching +Orphanet:213625 Leiomyosarcoma of the corpus uteri oboInOwl:hasDbXref UMLS:C0280631 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri oboInOwl:hasDbXref UMLS:C4707724 semapv:UnspecifiedMatching +Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref MedDRA:10003827 semapv:UnspecifiedMatching +Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref UMLS:C4721555 semapv:UnspecifiedMatching +Orphanet:2137 Autoimmune hepatitis oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref MedDRA:10057649 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C0206630 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:2B5C semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:XH1S94 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:XH1TK5 semapv:UnspecifiedMatching +Orphanet:213711 Endometrial stromal sarcoma oboInOwl:hasDbXref icd11:XH2CV3 semapv:UnspecifiedMatching +Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4707099 semapv:UnspecifiedMatching +Orphanet:213716 Squamous cell carcinoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4707822 semapv:UnspecifiedMatching +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching +Orphanet:213726 Serous carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213726 Serous carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C5679804 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C4751234 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri oboInOwl:hasDbXref UMLS:C5190779 semapv:UnspecifiedMatching +Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching +Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref ICD10:C54.9 semapv:UnspecifiedMatching +Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref UMLS:C5191668 semapv:UnspecifiedMatching +Orphanet:213746 Transitional cell carcinoma of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.0 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.1 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.2 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.3 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref ICD10:C54.8 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref UMLS:C4750753 semapv:UnspecifiedMatching +Orphanet:213751 Malignant germ cell tumor of the corpus uteri oboInOwl:hasDbXref icd11:2C76.Y semapv:UnspecifiedMatching +Orphanet:213761 Rare cancer of cervix uteri oboInOwl:hasDbXref UMLS:C5679805 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref MedDRA:10041848 semapv:UnspecifiedMatching +Orphanet:213767 Squamous cell carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279671 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref MedDRA:10001197 semapv:UnspecifiedMatching +Orphanet:213772 Adenocarcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C0279672 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4751235 semapv:UnspecifiedMatching +Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri oboInOwl:hasDbXref UMLS:C5679806 semapv:UnspecifiedMatching +Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53 semapv:UnspecifiedMatching +Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53 semapv:UnspecifiedMatching +Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1332917 semapv:UnspecifiedMatching +Orphanet:213787 Carcinosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1516426 semapv:UnspecifiedMatching +Orphanet:213792 Adenosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching +Orphanet:213797 Sarcoma of cervix uteri oboInOwl:hasDbXref UMLS:C5679807 semapv:UnspecifiedMatching +Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching +Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref MESH:D050090 semapv:UnspecifiedMatching +Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching +Orphanet:2138 46,XX ovotesticular difference of sex development oboInOwl:hasDbXref UMLS:C5679613 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4289809 semapv:UnspecifiedMatching +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213807 Leiomyosarcoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4289817 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri oboInOwl:hasDbXref UMLS:C4707725 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1332911 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C1516403 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref UMLS:C4707881 semapv:UnspecifiedMatching +Orphanet:213833 Glassy cell carcinoma of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.0 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.1 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref ICD10:C53.8 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref UMLS:C4750752 semapv:UnspecifiedMatching +Orphanet:213837 Malignant germ cell tumor of the cervix uteri oboInOwl:hasDbXref icd11:2C77.Y semapv:UnspecifiedMatching +Orphanet:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref MESH:C538112 semapv:UnspecifiedMatching +Orphanet:2139 Hernández-Aguirre Negrete syndrome oboInOwl:hasDbXref UMLS:C2931736 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref MESH:D003555 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref MedDRA:10011778 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref UMLS:C0010691 semapv:UnspecifiedMatching +Orphanet:214 Cystinuria oboInOwl:hasDbXref icd11:5C60.2 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10:Q79.0 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MESH:D065630 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref MedDRA:10010439 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:306950 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching +Orphanet:2140 Congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS:C0235833 semapv:UnspecifiedMatching +Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref OMIM:601163 semapv:UnspecifiedMatching +Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome oboInOwl:hasDbXref UMLS:C4303589 semapv:UnspecifiedMatching +Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref MESH:C536390 semapv:UnspecifiedMatching +Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref OMIM:222448 semapv:UnspecifiedMatching +Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref UMLS:C1857277 semapv:UnspecifiedMatching +Orphanet:2143 Donnai-Barrow syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:2145 Craniosynostosis, Herrmann-Opitz type oboInOwl:hasDbXref UMLS:C4706536 semapv:UnspecifiedMatching +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref OMIM:300067 semapv:UnspecifiedMatching +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation oboInOwl:hasDbXref UMLS:C4275012 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:608097 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:608098 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:612881 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref OMIM:617201 semapv:UnspecifiedMatching +Orphanet:2149 Nodular neuronal heterotopia oboInOwl:hasDbXref UMLS:C5680679 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref MESH:C536122 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:163500 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:257270 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:300071 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:310500 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610427 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610444 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:610445 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:613216 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:613830 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:614565 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:615058 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:616389 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref OMIM:617024 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref UMLS:C0339535 semapv:UnspecifiedMatching +Orphanet:215 Congenital stationary night blindness oboInOwl:hasDbXref icd11:9D45 semapv:UnspecifiedMatching +Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref MESH:C538319 semapv:UnspecifiedMatching +Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref OMIM:306980 semapv:UnspecifiedMatching +Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome oboInOwl:hasDbXref UMLS:C4303481 semapv:UnspecifiedMatching +Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref MESH:C538119 semapv:UnspecifiedMatching +Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome oboInOwl:hasDbXref UMLS:C5191058 semapv:UnspecifiedMatching +Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching +Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching +Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS:C1856113 semapv:UnspecifiedMatching +Orphanet:2152 Mowat-Wilson syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref MESH:C535615 semapv:UnspecifiedMatching +Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:235760 semapv:UnspecifiedMatching +Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1856110 semapv:UnspecifiedMatching +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref MESH:C537235 semapv:UnspecifiedMatching +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref OMIM:235740 semapv:UnspecifiedMatching +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome oboInOwl:hasDbXref UMLS:C2931452 semapv:UnspecifiedMatching +Orphanet:2157 Histidinemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:2157 Histidinemia oboInOwl:hasDbXref MESH:C538320 semapv:UnspecifiedMatching +Orphanet:2157 Histidinemia oboInOwl:hasDbXref OMIM:235800 semapv:UnspecifiedMatching +Orphanet:2157 Histidinemia oboInOwl:hasDbXref UMLS:C0220992 semapv:UnspecifiedMatching +Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref MESH:C538321 semapv:UnspecifiedMatching +Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref OMIM:235830 semapv:UnspecifiedMatching +Orphanet:2158 Histidinuria-renal tubular defect syndrome oboInOwl:hasDbXref UMLS:C0268642 semapv:UnspecifiedMatching +Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:D009472 semapv:UnspecifiedMatching +Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10074607 semapv:UnspecifiedMatching +Orphanet:216 Neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref MedDRA:10056304 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:142945 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:142946 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:236100 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:605934 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:609408 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:610828 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:612530 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:614226 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref OMIM:619895 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref UMLS:C0079541 semapv:UnspecifiedMatching +Orphanet:2162 Holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref MESH:C537684 semapv:UnspecifiedMatching +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref OMIM:601370 semapv:UnspecifiedMatching +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1832424 semapv:UnspecifiedMatching +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD20.3 semapv:UnspecifiedMatching +Orphanet:216445 Prelingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:216452 Postlingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C4749731 semapv:UnspecifiedMatching +Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref MESH:C535829 semapv:UnspecifiedMatching +Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:264480 semapv:UnspecifiedMatching +Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C1849649 semapv:UnspecifiedMatching +Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref MESH:D014188 semapv:UnspecifiedMatching +Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref MedDRA:10044443 semapv:UnspecifiedMatching +Orphanet:216675 Transposition of the great arteries oboInOwl:hasDbXref UMLS:C0040761 semapv:UnspecifiedMatching +Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.5 semapv:UnspecifiedMatching +Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MESH:D000080041 semapv:UnspecifiedMatching +Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref MedDRA:10011120 semapv:UnspecifiedMatching +Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref UMLS:C0344616 semapv:UnspecifiedMatching +Orphanet:216694 Congenitally corrected transposition of the great arteries oboInOwl:hasDbXref icd11:LA85.00 semapv:UnspecifiedMatching +Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref MESH:C535327 semapv:UnspecifiedMatching +Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref OMIM:236110 semapv:UnspecifiedMatching +Orphanet:2167 Holzgreve syndrome oboInOwl:hasDbXref UMLS:C1856095 semapv:UnspecifiedMatching +Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref UMLS:C5679810 semapv:UnspecifiedMatching +Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation oboInOwl:hasDbXref UMLS:C5679811 semapv:UnspecifiedMatching +Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching +Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching +Orphanet:216796 Osteogenesis imperfecta type 1 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching +Orphanet:2168 Homocarnosinosis oboInOwl:hasDbXref MESH:C535328 semapv:UnspecifiedMatching +Orphanet:2168 Homocarnosinosis oboInOwl:hasDbXref OMIM:236130 semapv:UnspecifiedMatching +Orphanet:2168 Homocarnosinosis oboInOwl:hasDbXref UMLS:C3495554 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref UMLS:C0268358 semapv:UnspecifiedMatching +Orphanet:216804 Osteogenesis imperfecta type 2 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C536044 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:613848 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:614856 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:616229 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0268362 semapv:UnspecifiedMatching +Orphanet:216812 Osteogenesis imperfecta type 3 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref MESH:C000631847 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:615066 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:616507 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref UMLS:C0268363 semapv:UnspecifiedMatching +Orphanet:216820 Osteogenesis imperfecta type 4 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching +Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref MESH:C567042 semapv:UnspecifiedMatching +Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching +Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref UMLS:C2931093 semapv:UnspecifiedMatching +Orphanet:216828 Osteogenesis imperfecta type 5 oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C5679812 semapv:UnspecifiedMatching +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref MESH:C565510 semapv:UnspecifiedMatching +Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching +Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref UMLS:C1856057 semapv:UnspecifiedMatching +Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:216972 Niemann-Pick disease type C, severe perinatal form oboInOwl:hasDbXref UMLS:C5680866 semapv:UnspecifiedMatching +Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset oboInOwl:hasDbXref UMLS:C5680868 semapv:UnspecifiedMatching +Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset oboInOwl:hasDbXref UMLS:C5680867 semapv:UnspecifiedMatching +Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset oboInOwl:hasDbXref UMLS:C5679813 semapv:UnspecifiedMatching +Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref UMLS:C5680869 semapv:UnspecifiedMatching +Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref UMLS:C0432322 semapv:UnspecifiedMatching +Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref OMIM:220200 semapv:UnspecifiedMatching +Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref UMLS:C5680466 semapv:UnspecifiedMatching +Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref icd11:LA06.0 semapv:UnspecifiedMatching +Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref MESH:C565394 semapv:UnspecifiedMatching +Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching +Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref UMLS:C1855128 semapv:UnspecifiedMatching +Orphanet:2170 Methylcobalamin deficiency type cblG oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref ICD10:Q27.4 semapv:UnspecifiedMatching +Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref ICD10:Q27.4 semapv:UnspecifiedMatching +Orphanet:217008 Bockenheimer syndrome oboInOwl:hasDbXref UMLS:C5679814 semapv:UnspecifiedMatching +Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref MESH:C566146 semapv:UnspecifiedMatching +Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref OMIM:117210 semapv:UnspecifiedMatching +Orphanet:217012 Spinocerebellar ataxia type 31 oboInOwl:hasDbXref UMLS:C1861736 semapv:UnspecifiedMatching +Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref MESH:C567865 semapv:UnspecifiedMatching +Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref OMIM:612916 semapv:UnspecifiedMatching +Orphanet:217017 Zechi-Ceide syndrome oboInOwl:hasDbXref UMLS:C2752047 semapv:UnspecifiedMatching +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref MESH:C567850 semapv:UnspecifiedMatching +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref OMIM:612946 semapv:UnspecifiedMatching +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref UMLS:C2751878 semapv:UnspecifiedMatching +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C4750774 semapv:UnspecifiedMatching +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref OMIM:119900 semapv:UnspecifiedMatching +Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref UMLS:C0345408 semapv:UnspecifiedMatching +Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref ICD10:T45.1 semapv:UnspecifiedMatching +Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref UMLS:C0274576 semapv:UnspecifiedMatching +Orphanet:217067 Pouchitis oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching +Orphanet:217067 Pouchitis oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching +Orphanet:217067 Pouchitis oboInOwl:hasDbXref MESH:D019449 semapv:UnspecifiedMatching +Orphanet:217067 Pouchitis oboInOwl:hasDbXref MedDRA:10036463 semapv:UnspecifiedMatching +Orphanet:217067 Pouchitis oboInOwl:hasDbXref UMLS:C0376620 semapv:UnspecifiedMatching +Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching +Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref MedDRA:10067946 semapv:UnspecifiedMatching +Orphanet:217071 Renal cell carcinoma oboInOwl:hasDbXref UMLS:C0007134 semapv:UnspecifiedMatching +Orphanet:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref MESH:D010190 semapv:UnspecifiedMatching +Orphanet:217074 Rare carcinoma of pancreas oboInOwl:hasDbXref UMLS:C5680420 semapv:UnspecifiedMatching +Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl:hasDbXref UMLS:C5680870 semapv:UnspecifiedMatching +Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching +Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching +Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref icd11:5C56.31 semapv:UnspecifiedMatching +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref UMLS:C5679815 semapv:UnspecifiedMatching +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref icd11:5C56.31 semapv:UnspecifiedMatching +Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref MESH:C565411 semapv:UnspecifiedMatching +Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref OMIM:248760 semapv:UnspecifiedMatching +Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOwl:hasDbXref UMLS:C1855348 semapv:UnspecifiedMatching +Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref ICD10:G13.1 semapv:UnspecifiedMatching +Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref ICD10:G13.1 semapv:UnspecifiedMatching +Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref MESH:D060426 semapv:UnspecifiedMatching +Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref UMLS:C2986717 semapv:UnspecifiedMatching +Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10:A81.2 semapv:UnspecifiedMatching +Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10:A81.2 semapv:UnspecifiedMatching +Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching +Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MedDRA:10036807 semapv:UnspecifiedMatching +Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS:C0023524 semapv:UnspecifiedMatching +Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref MESH:C567672 semapv:UnspecifiedMatching +Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref OMIM:608980 semapv:UnspecifiedMatching +Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref UMLS:C2750433 semapv:UnspecifiedMatching +Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching +Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1854061 semapv:UnspecifiedMatching +Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:613092 semapv:UnspecifiedMatching +Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C4303080 semapv:UnspecifiedMatching +Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref MESH:C567770 semapv:UnspecifiedMatching +Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref OMIM:613075 semapv:UnspecifiedMatching +Orphanet:217335 RIN2 syndrome oboInOwl:hasDbXref UMLS:C2751321 semapv:UnspecifiedMatching +Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref OMIM:613533 semapv:UnspecifiedMatching +Orphanet:217340 17q21.31 microduplication syndrome oboInOwl:hasDbXref UMLS:C4274345 semapv:UnspecifiedMatching +Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref OMIM:613026 semapv:UnspecifiedMatching +Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304577 semapv:UnspecifiedMatching +Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.K0 semapv:UnspecifiedMatching +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref OMIM:613070 semapv:UnspecifiedMatching +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref UMLS:C5679818 semapv:UnspecifiedMatching +Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref OMIM:300801 semapv:UnspecifiedMatching +Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref UMLS:C4303068 semapv:UnspecifiedMatching +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref MESH:C567791 semapv:UnspecifiedMatching +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref OMIM:613068 semapv:UnspecifiedMatching +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref UMLS:C2751584 semapv:UnspecifiedMatching +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency oboInOwl:hasDbXref icd11:5C63.1 semapv:UnspecifiedMatching +Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref OMIM:613215 semapv:UnspecifiedMatching +Orphanet:217385 17p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304641 semapv:UnspecifiedMatching +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref OMIM:243700 semapv:UnspecifiedMatching +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency oboInOwl:hasDbXref UMLS:C5679816 semapv:UnspecifiedMatching +Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref OMIM:613710 semapv:UnspecifiedMatching +Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C3150973 semapv:UnspecifiedMatching +Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation oboInOwl:hasDbXref UMLS:C5679817 semapv:UnspecifiedMatching +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref MESH:C567751 semapv:UnspecifiedMatching +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref OMIM:613102 semapv:UnspecifiedMatching +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles oboInOwl:hasDbXref UMLS:C2751292 semapv:UnspecifiedMatching +Orphanet:217454 Rare hereditary thrombophilia oboInOwl:hasDbXref UMLS:C5680871 semapv:UnspecifiedMatching +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref OMIM:613116 semapv:UnspecifiedMatching +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref UMLS:C5190887 semapv:UnspecifiedMatching +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching +Orphanet:217557 Pulmonary interstitial glycogenosis oboInOwl:hasDbXref ICD10:P22.8 semapv:UnspecifiedMatching +Orphanet:217557 Pulmonary interstitial glycogenosis oboInOwl:hasDbXref ICD10:P22.8 semapv:UnspecifiedMatching +Orphanet:217557 Pulmonary interstitial glycogenosis oboInOwl:hasDbXref UMLS:C3161106 semapv:UnspecifiedMatching +Orphanet:217557 Pulmonary interstitial glycogenosis oboInOwl:hasDbXref icd11:CB04.Y semapv:UnspecifiedMatching +Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref MedDRA:10072968 semapv:UnspecifiedMatching +Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref UMLS:C3161105 semapv:UnspecifiedMatching +Orphanet:217560 Neuroendocrine cell hyperplasia of infancy oboInOwl:hasDbXref icd11:CB04.7 semapv:UnspecifiedMatching +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref ICD10:P28.0 semapv:UnspecifiedMatching +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref MESH:C566882 semapv:UnspecifiedMatching +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref OMIM:265120 semapv:UnspecifiedMatching +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency oboInOwl:hasDbXref UMLS:C1968602 semapv:UnspecifiedMatching +Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching +Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency oboInOwl:hasDbXref UMLS:C5190853 semapv:UnspecifiedMatching +Orphanet:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D002312 semapv:UnspecifiedMatching +Orphanet:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MedDRA:10020871 semapv:UnspecifiedMatching +Orphanet:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680884 semapv:UnspecifiedMatching +Orphanet:217587 Mitochondrial disease with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680879 semapv:UnspecifiedMatching +Orphanet:217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680880 semapv:UnspecifiedMatching +Orphanet:217595 Syndrome associated with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680881 semapv:UnspecifiedMatching +Orphanet:217598 Non-familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680883 semapv:UnspecifiedMatching +Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching +Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching +Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching +Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:236490 semapv:UnspecifiedMatching +Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MESH:D002311 semapv:UnspecifiedMatching +Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref MedDRA:10056370 semapv:UnspecifiedMatching +Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0007193 semapv:UnspecifiedMatching +Orphanet:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref MESH:C536231 semapv:UnspecifiedMatching +Orphanet:217607 Familial dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0340427 semapv:UnspecifiedMatching +Orphanet:217610 Neuromuscular disease with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680878 semapv:UnspecifiedMatching +Orphanet:217613 Mitochondrial disease with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680874 semapv:UnspecifiedMatching +Orphanet:217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680875 semapv:UnspecifiedMatching +Orphanet:217619 Syndrome associated with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680876 semapv:UnspecifiedMatching +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605362 semapv:UnspecifiedMatching +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5679819 semapv:UnspecifiedMatching +Orphanet:217629 Non-familial dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5681849 semapv:UnspecifiedMatching +Orphanet:217629 Non-familial dilated cardiomyopathy oboInOwl:hasDbXref icd11:BC43.01 semapv:UnspecifiedMatching +Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching +Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MedDRA:10038748 semapv:UnspecifiedMatching +Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0007196 semapv:UnspecifiedMatching +Orphanet:217635 Familial restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0340429 semapv:UnspecifiedMatching +Orphanet:217638 Lysosomal disease with restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C5680886 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:600996 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:602086 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:602087 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:604400 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:604401 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:607450 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:609040 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:610476 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:611528 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy oboInOwl:hasDbXref UMLS:C4274968 semapv:UnspecifiedMatching +Orphanet:217678 Unclassified cardiomyopathy oboInOwl:hasDbXref UMLS:C4682345 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref MESH:D006832 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref MedDRA:10073472 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref OMIM:605013 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref UMLS:C0020225 semapv:UnspecifiedMatching +Orphanet:2177 Hydranencephaly oboInOwl:hasDbXref icd11:LA05.62 semapv:UnspecifiedMatching +Orphanet:217720 Non-familial restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C5680885 semapv:UnspecifiedMatching +Orphanet:217720 Non-familial restrictive cardiomyopathy oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref MESH:D007644 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref MedDRA:10023369 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref UMLS:C0022595 semapv:UnspecifiedMatching +Orphanet:218 Darier disease oboInOwl:hasDbXref icd11:EC20.2 semapv:UnspecifiedMatching +Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref MESH:C536461 semapv:UnspecifiedMatching +Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref OMIM:600991 semapv:UnspecifiedMatching +Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome oboInOwl:hasDbXref UMLS:C2931197 semapv:UnspecifiedMatching +Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref MESH:C535770 semapv:UnspecifiedMatching +Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref OMIM:236660 semapv:UnspecifiedMatching +Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome oboInOwl:hasDbXref UMLS:C1856051 semapv:UnspecifiedMatching +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref MESH:C536078 semapv:UnspecifiedMatching +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref UMLS:C0265216 semapv:UnspecifiedMatching +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref icd11:LA04.0 semapv:UnspecifiedMatching +Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4303476 semapv:UnspecifiedMatching +Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref MESH:C538107 semapv:UnspecifiedMatching +Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref UMLS:C2931734 semapv:UnspecifiedMatching +Orphanet:218436 Rare cardiac rhythm disease oboInOwl:hasDbXref UMLS:C5680887 semapv:UnspecifiedMatching +Orphanet:218439 Non-genetic cardiac rhythm disease oboInOwl:hasDbXref UMLS:C5680888 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.0 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.9 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref ICD10:Q03.9 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref MedDRA:10010506 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching +Orphanet:2185 Congenital hydrocephalus oboInOwl:hasDbXref UMLS:C0020256 semapv:UnspecifiedMatching +Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome oboInOwl:hasDbXref UMLS:C4750751 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref MESH:C536079 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref OMIM:236680 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref OMIM:614120 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref UMLS:C2931104 semapv:UnspecifiedMatching +Orphanet:2189 Hydrolethalus oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref MESH:C535896 semapv:UnspecifiedMatching +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref OMIM:601287 semapv:UnspecifiedMatching +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 oboInOwl:hasDbXref UMLS:C1832525 semapv:UnspecifiedMatching +Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 semapv:UnspecifiedMatching +Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 semapv:UnspecifiedMatching +Orphanet:2195 Dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS:C1857253 semapv:UnspecifiedMatching +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref MESH:C565423 semapv:UnspecifiedMatching +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref OMIM:248190 semapv:UnspecifiedMatching +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref UMLS:C1855466 semapv:UnspecifiedMatching +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching +Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:143870 semapv:UnspecifiedMatching +Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref OMIM:607258 semapv:UnspecifiedMatching +Orphanet:2197 Idiopathic hypercalciuria oboInOwl:hasDbXref UMLS:C0543800 semapv:UnspecifiedMatching +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref MESH:C536164 semapv:UnspecifiedMatching +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 semapv:UnspecifiedMatching +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS:C1835664 semapv:UnspecifiedMatching +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching +Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:D053546 semapv:UnspecifiedMatching +Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching +Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1721006 semapv:UnspecifiedMatching +Orphanet:2199 Epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535803 semapv:UnspecifiedMatching +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:271980 semapv:UnspecifiedMatching +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268631 semapv:UnspecifiedMatching +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref MedDRA:10070179 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 semapv:UnspecifiedMatching +Orphanet:220 Denys-Drash syndrome oboInOwl:hasDbXref UMLS:C0950121 semapv:UnspecifiedMatching +Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref MESH:C536157 semapv:UnspecifiedMatching +Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref OMIM:148730 semapv:UnspecifiedMatching +Orphanet:2200 Focal palmoplantar and gingival keratoderma oboInOwl:hasDbXref UMLS:C1835650 semapv:UnspecifiedMatching +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref MESH:C538358 semapv:UnspecifiedMatching +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref OMIM:148360 semapv:UnspecifiedMatching +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome oboInOwl:hasDbXref UMLS:C2931828 semapv:UnspecifiedMatching +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH:C536152 semapv:UnspecifiedMatching +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 semapv:UnspecifiedMatching +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:610651 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref UMLS:C4304411 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref MESH:D020167 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref MedDRA:10081311 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238700 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref OMIM:238710 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref UMLS:C0268553 semapv:UnspecifiedMatching +Orphanet:2203 Hyperlysinemia oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:301043 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0751617 semapv:UnspecifiedMatching +Orphanet:220386 Semilobar holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching +Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching +Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref icd11:4A42.1 semapv:UnspecifiedMatching +Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching +Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching +Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching +Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref UMLS:C5574860 semapv:UnspecifiedMatching +Orphanet:220407 Limited systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching +Orphanet:220407 Limited systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching +Orphanet:220407 Limited systemic sclerosis oboInOwl:hasDbXref UMLS:C0748540 semapv:UnspecifiedMatching +Orphanet:220407 Limited systemic sclerosis oboInOwl:hasDbXref icd11:4A42.2 semapv:UnspecifiedMatching +Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 semapv:UnspecifiedMatching +Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching +Orphanet:220436 Quebec platelet disorder oboInOwl:hasDbXref UMLS:C1866423 semapv:UnspecifiedMatching +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref OMIM:614009 semapv:UnspecifiedMatching +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref UMLS:C5190857 semapv:UnspecifiedMatching +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency oboInOwl:hasDbXref icd11:3B62.1 semapv:UnspecifiedMatching +Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency oboInOwl:hasDbXref UMLS:C4749648 semapv:UnspecifiedMatching +Orphanet:220452 Isolated hereditary giant platelet disorder oboInOwl:hasDbXref UMLS:C5679822 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref MESH:C538265 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:612591 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:615083 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching +Orphanet:220460 Attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C2674616 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:245590 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref OMIM:618985 semapv:UnspecifiedMatching +Orphanet:220465 Laron syndrome with immunodeficiency oboInOwl:hasDbXref UMLS:C4510411 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:608629 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:614464 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:614970 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref OMIM:617121 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref UMLS:C4274118 semapv:UnspecifiedMatching +Orphanet:220493 Joubert syndrome with ocular defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref UMLS:C4274117 semapv:UnspecifiedMatching +Orphanet:220497 Joubert syndrome with renal defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref ICD10:M48.1 semapv:UnspecifiedMatching +Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching +Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis oboInOwl:hasDbXref UMLS:C0020498 semapv:UnspecifiedMatching +Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref MESH:D017042 semapv:UnspecifiedMatching +Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching +Orphanet:2209 Maternal phenylketonuria oboInOwl:hasDbXref UMLS:C0085547 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref MESH:D003882 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref MedDRA:10012503 semapv:UnspecifiedMatching +Orphanet:221 Dermatomyositis oboInOwl:hasDbXref UMLS:C0011633 semapv:UnspecifiedMatching +Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching +Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:618625 semapv:UnspecifiedMatching +Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref OMIM:173700 semapv:UnspecifiedMatching +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref UMLS:C5680890 semapv:UnspecifiedMatching +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref icd11:EC10 semapv:UnspecifiedMatching +Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref OMIM:615704 semapv:UnspecifiedMatching +Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome oboInOwl:hasDbXref UMLS:C4749823 semapv:UnspecifiedMatching +Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref MESH:C565820 semapv:UnspecifiedMatching +Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 semapv:UnspecifiedMatching +Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref UMLS:C1858723 semapv:UnspecifiedMatching +Orphanet:221046 Poikiloderma with neutropenia oboInOwl:hasDbXref icd11:EC10 semapv:UnspecifiedMatching +Orphanet:221054 Acrocephalopolydactyly oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:221054 Acrocephalopolydactyly oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:221054 Acrocephalopolydactyly oboInOwl:hasDbXref MESH:C573722 semapv:UnspecifiedMatching +Orphanet:221054 Acrocephalopolydactyly oboInOwl:hasDbXref OMIM:200995 semapv:UnspecifiedMatching +Orphanet:221054 Acrocephalopolydactyly oboInOwl:hasDbXref UMLS:C3495588 semapv:UnspecifiedMatching +Orphanet:221054 Acrocephalopolydactyly oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref MESH:C536610 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:116860 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:603284 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:603285 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref OMIM:619538 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref UMLS:C2931263 semapv:UnspecifiedMatching +Orphanet:221061 Familial cerebral cavernous malformation oboInOwl:hasDbXref icd11:LA90.0Y semapv:UnspecifiedMatching +Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref ICD10:G37.1 semapv:UnspecifiedMatching +Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref ICD10:G37.1 semapv:UnspecifiedMatching +Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MESH:D054319 semapv:UnspecifiedMatching +Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref MedDRA:10026828 semapv:UnspecifiedMatching +Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref UMLS:C0238265 semapv:UnspecifiedMatching +Orphanet:221074 Marchiafava-Bignami disease oboInOwl:hasDbXref icd11:8A46 semapv:UnspecifiedMatching +Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref ICD10:G52.7 semapv:UnspecifiedMatching +Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref ICD10:G52.7 semapv:UnspecifiedMatching +Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves oboInOwl:hasDbXref UMLS:C5190851 semapv:UnspecifiedMatching +Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 semapv:UnspecifiedMatching +Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref MESH:D019569 semapv:UnspecifiedMatching +Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref UMLS:C0278152 semapv:UnspecifiedMatching +Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref UMLS:C1841639 semapv:UnspecifiedMatching +Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref icd11:8B88.2 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref ICD10:G50.0 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref MedDRA:10044652 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching +Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref UMLS:C0040997 semapv:UnspecifiedMatching +Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10:G52.1 semapv:UnspecifiedMatching +Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref MESH:D020435 semapv:UnspecifiedMatching +Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref MedDRA:10018391 semapv:UnspecifiedMatching +Orphanet:221098 Glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS:C0154731 semapv:UnspecifiedMatching +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C538332 semapv:UnspecifiedMatching +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:239710 semapv:UnspecifiedMatching +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref UMLS:C1855904 semapv:UnspecifiedMatching +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:221109 Cranial neuralgia oboInOwl:hasDbXref UMLS:C0010269 semapv:UnspecifiedMatching +Orphanet:221114 Acquired peripheral movement disorder oboInOwl:hasDbXref UMLS:C5680889 semapv:UnspecifiedMatching +Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref ICD10:F81.2 semapv:UnspecifiedMatching +Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 semapv:UnspecifiedMatching +Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref MedDRA:10048608 semapv:UnspecifiedMatching +Orphanet:221117 Gerstmann syndrome oboInOwl:hasDbXref UMLS:C0017494 semapv:UnspecifiedMatching +Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref MESH:C535823 semapv:UnspecifiedMatching +Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref OMIM:600325 semapv:UnspecifiedMatching +Orphanet:221120 Pseudoaminopterin syndrome oboInOwl:hasDbXref UMLS:C0795939 semapv:UnspecifiedMatching +Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref MedDRA:10071718 semapv:UnspecifiedMatching +Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref OMIM:225790 semapv:UnspecifiedMatching +Orphanet:221126 Fowler vasculopathy oboInOwl:hasDbXref UMLS:C1856972 semapv:UnspecifiedMatching +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref MESH:C567641 semapv:UnspecifiedMatching +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref OMIM:613328 semapv:UnspecifiedMatching +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref UMLS:C2750068 semapv:UnspecifiedMatching +Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref UMLS:C5680892 semapv:UnspecifiedMatching +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref MESH:C567716 semapv:UnspecifiedMatching +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref OMIM:613177 semapv:UnspecifiedMatching +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oboInOwl:hasDbXref UMLS:C2750804 semapv:UnspecifiedMatching +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref MESH:C537632 semapv:UnspecifiedMatching +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref OMIM:239800 semapv:UnspecifiedMatching +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome oboInOwl:hasDbXref UMLS:C0220742 semapv:UnspecifiedMatching +Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref OMIM:217150 semapv:UnspecifiedMatching +Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome oboInOwl:hasDbXref UMLS:C4304748 semapv:UnspecifiedMatching +Orphanet:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:2216 Maternal hyperthermia-induced birth defects oboInOwl:hasDbXref UMLS:C4707329 semapv:UnspecifiedMatching +Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:239840 semapv:UnspecifiedMatching +Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome oboInOwl:hasDbXref UMLS:C4303793 semapv:UnspecifiedMatching +Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:222 Erosive pustular dermatosis of the scalp oboInOwl:hasDbXref UMLS:C0406464 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref MESH:C535618 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref MedDRA:10068636 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref OMIM:139600 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref UMLS:C1841696 semapv:UnspecifiedMatching +Orphanet:2220 Hypertrichosis cubiti oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref ICD10:L68.1 semapv:UnspecifiedMatching +Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref ICD10:L68.1 semapv:UnspecifiedMatching +Orphanet:2221 Acquired hypertrichosis lanuginosa oboInOwl:hasDbXref UMLS:C0343072 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref MESH:C538389 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:145700 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref OMIM:307150 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref UMLS:C0235864 semapv:UnspecifiedMatching +Orphanet:2222 Hypertrichosis lanuginosa congenita oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref MESH:C563467 semapv:UnspecifiedMatching +Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:UnspecifiedMatching +Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 semapv:UnspecifiedMatching +Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching +Orphanet:222628 Hereditary poikiloderma oboInOwl:hasDbXref UMLS:C5680891 semapv:UnspecifiedMatching +Orphanet:2227 NON RARE IN EUROPE: Hypodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching +Orphanet:2227 NON RARE IN EUROPE: Hypodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching +Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref MESH:C536736 semapv:UnspecifiedMatching +Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref OMIM:189500 semapv:UnspecifiedMatching +Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref UMLS:C0406735 semapv:UnspecifiedMatching +Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching +Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching +Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796083 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MedDRA:10029147 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching +Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref icd11:GB90.4A semapv:UnspecifiedMatching +Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref UMLS:C4303079 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref MESH:C536949 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref OMIM:241090 semapv:UnspecifiedMatching +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome oboInOwl:hasDbXref UMLS:C2931374 semapv:UnspecifiedMatching +Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537981 semapv:UnspecifiedMatching +Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931685 semapv:UnspecifiedMatching +Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C536679 semapv:UnspecifiedMatching +Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:307500 semapv:UnspecifiedMatching +Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C2931285 semapv:UnspecifiedMatching +Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C538075 semapv:UnspecifiedMatching +Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C2931722 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref MESH:C537907 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref MedDRA:10075281 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref OMIM:146255 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref UMLS:C1840333 semapv:UnspecifiedMatching +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:223713 Mitochondrial oxidative phosphorylation disorder oboInOwl:hasDbXref UMLS:C5679825 semapv:UnspecifiedMatching +Orphanet:223713 Mitochondrial oxidative phosphorylation disorder oboInOwl:hasDbXref icd11:5C53.2 semapv:UnspecifiedMatching +Orphanet:223727 Bone sarcoma oboInOwl:hasDbXref MedDRA:10006007 semapv:UnspecifiedMatching +Orphanet:223727 Bone sarcoma oboInOwl:hasDbXref UMLS:C1704327 semapv:UnspecifiedMatching +Orphanet:223735 Lymphoma oboInOwl:hasDbXref MESH:D008223 semapv:UnspecifiedMatching +Orphanet:223735 Lymphoma oboInOwl:hasDbXref MedDRA:10025310 semapv:UnspecifiedMatching +Orphanet:223735 Lymphoma oboInOwl:hasDbXref UMLS:C0024299 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref MESH:C537156 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:615361 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref UMLS:C1832648 semapv:UnspecifiedMatching +Orphanet:2238 Familial isolated hypoparathyroidism oboInOwl:hasDbXref icd11:5A50.0Y semapv:UnspecifiedMatching +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref UMLS:C5680706 semapv:UnspecifiedMatching +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland oboInOwl:hasDbXref icd11:5A50.0Y semapv:UnspecifiedMatching +Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref MedDRA:10028933 semapv:UnspecifiedMatching +Orphanet:224 Neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C0158981 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref MESH:C536138 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:249210 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619351 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619362 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619365 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:619431 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref UMLS:C1608393 semapv:UnspecifiedMatching +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2244 Hypopituitarism-microphthalmia syndrome oboInOwl:hasDbXref UMLS:C2931361 semapv:UnspecifiedMatching +Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref OMIM:213000 semapv:UnspecifiedMatching +Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref UMLS:C4275139 semapv:UnspecifiedMatching +Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref ICD10:Q23.4 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MESH:D018636 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref MedDRA:10021076 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:241550 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:614435 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref UMLS:C0152101 semapv:UnspecifiedMatching +Orphanet:2248 Hypoplastic left heart syndrome oboInOwl:hasDbXref icd11:LA89.3 semapv:UnspecifiedMatching +Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536934 semapv:UnspecifiedMatching +Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:276821 semapv:UnspecifiedMatching +Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4304398 semapv:UnspecifiedMatching +Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MESH:C536246 semapv:UnspecifiedMatching +Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MedDRA:10086189 semapv:UnspecifiedMatching +Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref OMIM:520000 semapv:UnspecifiedMatching +Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref UMLS:C0342289 semapv:UnspecifiedMatching +Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching +Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4510568 semapv:UnspecifiedMatching +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref MESH:C536904 semapv:UnspecifiedMatching +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref OMIM:188150 semapv:UnspecifiedMatching +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref UMLS:C4749768 semapv:UnspecifiedMatching +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching +Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching +Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref UMLS:C1858664 semapv:UnspecifiedMatching +Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref MedDRA:10077451 semapv:UnspecifiedMatching +Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C4087175 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref MedDRA:10077450 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching +Orphanet:225154 Familial infantile bilateral striatal necrosis oboInOwl:hasDbXref UMLS:C4087174 semapv:UnspecifiedMatching +Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref MESH:C536262 semapv:UnspecifiedMatching +Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref OMIM:179250 semapv:UnspecifiedMatching +Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome oboInOwl:hasDbXref UMLS:C1867397 semapv:UnspecifiedMatching +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref MESH:C537858 semapv:UnspecifiedMatching +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref OMIM:136520 semapv:UnspecifiedMatching +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref UMLS:C2931644 semapv:UnspecifiedMatching +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome oboInOwl:hasDbXref icd11:9C2Y semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref MESH:C548069 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:607596 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:614678 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:616081 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:618065 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:619303 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref OMIM:619304 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref UMLS:C5442006 semapv:UnspecifiedMatching +Orphanet:2254 Pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref MESH:C536714 semapv:UnspecifiedMatching +Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref OMIM:600001 semapv:UnspecifiedMatching +Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref UMLS:C2931296 semapv:UnspecifiedMatching +Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref MESH:C537226 semapv:UnspecifiedMatching +Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref OMIM:228940 semapv:UnspecifiedMatching +Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome oboInOwl:hasDbXref UMLS:C1856727 semapv:UnspecifiedMatching +Orphanet:225681 Lysosomal disease with epilepsy oboInOwl:hasDbXref UMLS:C5680898 semapv:UnspecifiedMatching +Orphanet:225686 Peroxisomal disease with epilepsy oboInOwl:hasDbXref UMLS:C5680899 semapv:UnspecifiedMatching +Orphanet:225689 Amino acid or protein metabolism disease with epilepsy oboInOwl:hasDbXref UMLS:C5680894 semapv:UnspecifiedMatching +Orphanet:225692 Metal transport or utilization disorder with epilepsy oboInOwl:hasDbXref UMLS:C5680895 semapv:UnspecifiedMatching +Orphanet:225696 Energy metabolism disorder with epilepsy oboInOwl:hasDbXref UMLS:C5680896 semapv:UnspecifiedMatching +Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref ICD10:Q33.6 semapv:UnspecifiedMatching +Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref OMIM:265430 semapv:UnspecifiedMatching +Orphanet:2257 Primary pulmonary hypoplasia oboInOwl:hasDbXref UMLS:C0456891 semapv:UnspecifiedMatching +Orphanet:225700 Mitochondrial disease with epilepsy oboInOwl:hasDbXref UMLS:C5680897 semapv:UnspecifiedMatching +Orphanet:225703 Mitochondrial disease with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5680900 semapv:UnspecifiedMatching +Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy oboInOwl:hasDbXref UMLS:C5680901 semapv:UnspecifiedMatching +Orphanet:225710 Sterol metabolism disorder with epilepsy oboInOwl:hasDbXref UMLS:C5680902 semapv:UnspecifiedMatching +Orphanet:225713 Other metabolic disease with epilepsy oboInOwl:hasDbXref UMLS:C5680903 semapv:UnspecifiedMatching +Orphanet:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref OMIM:261630 semapv:UnspecifiedMatching +Orphanet:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref UMLS:C0268465 semapv:UnspecifiedMatching +Orphanet:226 Dihydropteridine reductase deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching +Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:2260 Oligomeganephronia oboInOwl:hasDbXref UMLS:C0431694 semapv:UnspecifiedMatching +Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref OMIM:241760 semapv:UnspecifiedMatching +Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome oboInOwl:hasDbXref UMLS:C4274844 semapv:UnspecifiedMatching +Orphanet:226292 Permanent congenital hypothyroidism oboInOwl:hasDbXref UMLS:C5680893 semapv:UnspecifiedMatching +Orphanet:226292 Permanent congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching +Orphanet:226295 Primary congenital hypothyroidism oboInOwl:hasDbXref UMLS:C3715197 semapv:UnspecifiedMatching +Orphanet:226298 Central congenital hypothyroidism oboInOwl:hasDbXref UMLS:C3665349 semapv:UnspecifiedMatching +Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function oboInOwl:hasDbXref UMLS:C4273672 semapv:UnspecifiedMatching +Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs oboInOwl:hasDbXref UMLS:C5190849 semapv:UnspecifiedMatching +Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching +Orphanet:226316 Genetic transient congenital hypothyroidism oboInOwl:hasDbXref UMLS:C4749351 semapv:UnspecifiedMatching +Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type oboInOwl:hasDbXref UMLS:C4509839 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref OMIM:242860 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref OMIM:614069 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref OMIM:616910 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref OMIM:616911 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref UMLS:C0398788 semapv:UnspecifiedMatching +Orphanet:2268 ICF syndrome oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537364 semapv:UnspecifiedMatching +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref OMIM:242510 semapv:UnspecifiedMatching +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855788 semapv:UnspecifiedMatching +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:227 Diphallia oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching +Orphanet:227 Diphallia oboInOwl:hasDbXref UMLS:C0345322 semapv:UnspecifiedMatching +Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl:hasDbXref UMLS:C5679626 semapv:UnspecifiedMatching +Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref OMIM:258840 semapv:UnspecifiedMatching +Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref UMLS:C4518538 semapv:UnspecifiedMatching +Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:619016 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref UMLS:C1839988 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref MESH:C535727 semapv:UnspecifiedMatching +Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref OMIM:242520 semapv:UnspecifiedMatching +Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome oboInOwl:hasDbXref UMLS:C1275088 semapv:UnspecifiedMatching +Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching +Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref ICD10:G23.3 semapv:UnspecifiedMatching +Orphanet:227510 Multiple system atrophy, cerebellar type oboInOwl:hasDbXref UMLS:C5554234 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.2 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.3 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.4 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.5 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.6 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref ICD10:C50.8 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref MESH:C562840 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:604370 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:612555 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref OMIM:613399 semapv:UnspecifiedMatching +Orphanet:227535 Hereditary breast cancer oboInOwl:hasDbXref UMLS:C0346153 semapv:UnspecifiedMatching +Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref MESH:C562733 semapv:UnspecifiedMatching +Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching +Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 semapv:UnspecifiedMatching +Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref MESH:C536274 semapv:UnspecifiedMatching +Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref OMIM:242530 semapv:UnspecifiedMatching +Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref UMLS:C4518580 semapv:UnspecifiedMatching +Orphanet:227972 Toxic oil syndrome oboInOwl:hasDbXref ICD10:X46 semapv:UnspecifiedMatching +Orphanet:227972 Toxic oil syndrome oboInOwl:hasDbXref ICD10:X46 semapv:UnspecifiedMatching +Orphanet:227972 Toxic oil syndrome oboInOwl:hasDbXref MedDRA:10051222 semapv:UnspecifiedMatching +Orphanet:227972 Toxic oil syndrome oboInOwl:hasDbXref UMLS:C0409998 semapv:UnspecifiedMatching +Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref OMIM:612989 semapv:UnspecifiedMatching +Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type oboInOwl:hasDbXref UMLS:C5190807 semapv:UnspecifiedMatching +Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref UMLS:C1535942 semapv:UnspecifiedMatching +Orphanet:227982 Autoimmune polyendocrinopathy type 3 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching +Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref UMLS:C3266026 semapv:UnspecifiedMatching +Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching +Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching +Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref UMLS:C4706550 semapv:UnspecifiedMatching +Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref OMIM:615401 semapv:UnspecifiedMatching +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref UMLS:C3809383 semapv:UnspecifiedMatching +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching +Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C4304831 semapv:UnspecifiedMatching +Orphanet:228113 Anal fistula oboInOwl:hasDbXref ICD10:K60.3 semapv:UnspecifiedMatching +Orphanet:228113 Anal fistula oboInOwl:hasDbXref ICD10:K60.3 semapv:UnspecifiedMatching +Orphanet:228113 Anal fistula oboInOwl:hasDbXref MedDRA:10002156 semapv:UnspecifiedMatching +Orphanet:228113 Anal fistula oboInOwl:hasDbXref UMLS:C0205929 semapv:UnspecifiedMatching +Orphanet:228113 Anal fistula oboInOwl:hasDbXref icd11:DB50.1 semapv:UnspecifiedMatching +Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref ICD10:I28.8 semapv:UnspecifiedMatching +Orphanet:228116 Hughes-Stovin syndrome oboInOwl:hasDbXref UMLS:C4303478 semapv:UnspecifiedMatching +Orphanet:228119 Fusariosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:228119 Fusariosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:228119 Fusariosis oboInOwl:hasDbXref MESH:D060585 semapv:UnspecifiedMatching +Orphanet:228119 Fusariosis oboInOwl:hasDbXref MedDRA:10051919 semapv:UnspecifiedMatching +Orphanet:228119 Fusariosis oboInOwl:hasDbXref UMLS:C0276758 semapv:UnspecifiedMatching +Orphanet:228119 Fusariosis oboInOwl:hasDbXref icd11:1F2Z semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.0 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.1 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.1 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.2 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.2 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.3 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.3 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.4 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.4 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.7 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.7 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.8 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.8 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.9 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref ICD10:B38.9 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref MESH:D003047 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref MedDRA:10009825 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref UMLS:C0009186 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.1 semapv:UnspecifiedMatching +Orphanet:228123 Coccidioidomycosis oboInOwl:hasDbXref icd11:1F25.1Y semapv:UnspecifiedMatching +Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref ICD10:I49.0 semapv:UnspecifiedMatching +Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref ICD10:I49.0 semapv:UnspecifiedMatching +Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref OMIM:603829 semapv:UnspecifiedMatching +Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref OMIM:612956 semapv:UnspecifiedMatching +Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type oboInOwl:hasDbXref UMLS:C5679832 semapv:UnspecifiedMatching +Orphanet:228145 Multiple sclerosis variant oboInOwl:hasDbXref UMLS:C5680912 semapv:UnspecifiedMatching +Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching +Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref UMLS:C4707723 semapv:UnspecifiedMatching +Orphanet:228157 Marburg acute multiple sclerosis oboInOwl:hasDbXref icd11:8A4Y semapv:UnspecifiedMatching +Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref ICD10:G37.5 semapv:UnspecifiedMatching +Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref ICD10:G37.5 semapv:UnspecifiedMatching +Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref MedDRA:10010252 semapv:UnspecifiedMatching +Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref UMLS:C0004712 semapv:UnspecifiedMatching +Orphanet:228165 Baló concentric sclerosis oboInOwl:hasDbXref icd11:8A40.Y semapv:UnspecifiedMatching +Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref OMIM:609161 semapv:UnspecifiedMatching +Orphanet:228169 Autosomal dominant striatal neurodegeneration oboInOwl:hasDbXref UMLS:C4511004 semapv:UnspecifiedMatching +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref MESH:C567653 semapv:UnspecifiedMatching +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref OMIM:613287 semapv:UnspecifiedMatching +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref UMLS:C2750090 semapv:UnspecifiedMatching +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref UMLS:C4304672 semapv:UnspecifiedMatching +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref OMIM:604381 semapv:UnspecifiedMatching +Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome oboInOwl:hasDbXref UMLS:C4302746 semapv:UnspecifiedMatching +Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome oboInOwl:hasDbXref UMLS:C4518561 semapv:UnspecifiedMatching +Orphanet:228215 Genetic dermis elastic tissue disorder oboInOwl:hasDbXref UMLS:C5680909 semapv:UnspecifiedMatching +Orphanet:228218 Acquired dermis elastic tissue disorder oboInOwl:hasDbXref UMLS:C5680908 semapv:UnspecifiedMatching +Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue oboInOwl:hasDbXref UMLS:C5680911 semapv:UnspecifiedMatching +Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue oboInOwl:hasDbXref UMLS:C5680910 semapv:UnspecifiedMatching +Orphanet:228227 Late-onset focal dermal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228227 Late-onset focal dermal elastosis oboInOwl:hasDbXref UMLS:C4751167 semapv:UnspecifiedMatching +Orphanet:228236 Linear focal elastosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228236 Linear focal elastosis oboInOwl:hasDbXref UMLS:C4751166 semapv:UnspecifiedMatching +Orphanet:228240 Elastoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228240 Elastoderma oboInOwl:hasDbXref UMLS:C0406555 semapv:UnspecifiedMatching +Orphanet:228243 Elastofibroma dorsi oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228243 Elastofibroma dorsi oboInOwl:hasDbXref UMLS:C0346042 semapv:UnspecifiedMatching +Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228247 Acquired pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C1274759 semapv:UnspecifiedMatching +Orphanet:228254 Elastoma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:228254 Elastoma oboInOwl:hasDbXref UMLS:C0473583 semapv:UnspecifiedMatching +Orphanet:228254 Elastoma oboInOwl:hasDbXref icd11:LC2Y semapv:UnspecifiedMatching +Orphanet:228264 Papular elastorrhexis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228264 Papular elastorrhexis oboInOwl:hasDbXref UMLS:C5680907 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.1 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref ICD10:L90.2 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref MESH:D057088 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref UMLS:C0406550 semapv:UnspecifiedMatching +Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref icd11:EE41.1 semapv:UnspecifiedMatching +Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref UMLS:C4518793 semapv:UnspecifiedMatching +Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref UMLS:C0406549 semapv:UnspecifiedMatching +Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref icd11:EE41.0 semapv:UnspecifiedMatching +Orphanet:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228290 White fibrous papulosis of the neck oboInOwl:hasDbXref UMLS:C4706484 semapv:UnspecifiedMatching +Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref UMLS:C4049455 semapv:UnspecifiedMatching +Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref UMLS:C4728147 semapv:UnspecifiedMatching +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref MESH:C563461 semapv:UnspecifiedMatching +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref UMLS:C1833508 semapv:UnspecifiedMatching +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref MESH:C563462 semapv:UnspecifiedMatching +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form oboInOwl:hasDbXref UMLS:C1833511 semapv:UnspecifiedMatching +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref MESH:C563463 semapv:UnspecifiedMatching +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form oboInOwl:hasDbXref UMLS:C1833518 semapv:UnspecifiedMatching +Orphanet:228312 Autoimmune hemolytic anemia, cold type oboInOwl:hasDbXref MedDRA:10009868 semapv:UnspecifiedMatching +Orphanet:228312 Autoimmune hemolytic anemia, cold type oboInOwl:hasDbXref icd11:3A20.1 semapv:UnspecifiedMatching +Orphanet:228371 Foodborne botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:228371 Foodborne botulism oboInOwl:hasDbXref UMLS:C1739094 semapv:UnspecifiedMatching +Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching +Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref UMLS:C4749824 semapv:UnspecifiedMatching +Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref ICD10:L08.8 semapv:UnspecifiedMatching +Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref ICD10:L08.8 semapv:UnspecifiedMatching +Orphanet:228379 Virus-associated trichodysplasia spinulosa oboInOwl:hasDbXref UMLS:C3267126 semapv:UnspecifiedMatching +Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:613443 semapv:UnspecifiedMatching +Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304529 semapv:UnspecifiedMatching +Orphanet:228384 5q14.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.50 semapv:UnspecifiedMatching +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref MESH:C567639 semapv:UnspecifiedMatching +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref OMIM:613330 semapv:UnspecifiedMatching +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C2750066 semapv:UnspecifiedMatching +Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome oboInOwl:hasDbXref OMIM:613451 semapv:UnspecifiedMatching +Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome oboInOwl:hasDbXref UMLS:C4510728 semapv:UnspecifiedMatching +Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome oboInOwl:hasDbXref UMLS:C4510249 semapv:UnspecifiedMatching +Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:228399 8q12 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304504 semapv:UnspecifiedMatching +Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching +Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304532 semapv:UnspecifiedMatching +Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching +Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref UMLS:C4509918 semapv:UnspecifiedMatching +Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304526 semapv:UnspecifiedMatching +Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching +Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref UMLS:C3280030 semapv:UnspecifiedMatching +Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref OMIM:613385 semapv:UnspecifiedMatching +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref UMLS:C4755273 semapv:UnspecifiedMatching +Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching +Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref UMLS:C2750069 semapv:UnspecifiedMatching +Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref OMIM:109500 semapv:UnspecifiedMatching +Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref UMLS:C5679631 semapv:UnspecifiedMatching +Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref OMIM:147251 semapv:UnspecifiedMatching +Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref UMLS:C3494175 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MESH:C537395 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref UMLS:C1863843 semapv:UnspecifiedMatching +Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref ICD10:I71.0 semapv:UnspecifiedMatching +Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching +Orphanet:229 Familial aortic dissection oboInOwl:hasDbXref UMLS:C0345050 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref MESH:C537470 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref MedDRA:10068494 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref OMIM:251850 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref OMIM:619445 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref UMLS:C0341306 semapv:UnspecifiedMatching +Orphanet:2290 Microvillus inclusion disease oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref ICD10:J39.2 semapv:UnspecifiedMatching +Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref OMIM:167500 semapv:UnspecifiedMatching +Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref UMLS:C1997202 semapv:UnspecifiedMatching +Orphanet:2291 Congenital velopharyngeal incompetence oboInOwl:hasDbXref icd11:LA50 semapv:UnspecifiedMatching +Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref MESH:C535884 semapv:UnspecifiedMatching +Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref OMIM:147900 semapv:UnspecifiedMatching +Orphanet:2295 Familial articular hypermobility syndrome oboInOwl:hasDbXref UMLS:C0268349 semapv:UnspecifiedMatching +Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref OMIM:610549 semapv:UnspecifiedMatching +Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref UMLS:C0342336 semapv:UnspecifiedMatching +Orphanet:2297 Insulin-resistance syndrome type A oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:601495 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:612692 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613500 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613501 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613502 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:613506 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:615214 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref OMIM:616941 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref UMLS:C4707181 semapv:UnspecifiedMatching +Orphanet:229717 Isolated agammaglobulinemia oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching +Orphanet:229720 Syndromic agammaglobulinemia oboInOwl:hasDbXref UMLS:C5680904 semapv:UnspecifiedMatching +Orphanet:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref UMLS:C0342337 semapv:UnspecifiedMatching +Orphanet:2298 Insulin-resistance syndrome type B oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref MedDRA:10022599 semapv:UnspecifiedMatching +Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref UMLS:C0152419 semapv:UnspecifiedMatching +Orphanet:2299 Aortic arch interruption oboInOwl:hasDbXref icd11:LA8B.22 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref MedDRA:10058299 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 semapv:UnspecifiedMatching +Orphanet:23 Argininosuccinic aciduria oboInOwl:hasDbXref UMLS:C0268547 semapv:UnspecifiedMatching +Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 semapv:UnspecifiedMatching +Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 semapv:UnspecifiedMatching +Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0342687 semapv:UnspecifiedMatching +Orphanet:230 Dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref icd11:5C59.00 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref MESH:C562441 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref MedDRA:10028210 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref OMIM:619708 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref UMLS:C0220744 semapv:UnspecifiedMatching +Orphanet:2300 Multiple intestinal atresia oboInOwl:hasDbXref icd11:LB15.1 semapv:UnspecifiedMatching +Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching +Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref OMIM:615237 semapv:UnspecifiedMatching +Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref UMLS:C5441717 semapv:UnspecifiedMatching +Orphanet:2301 Congenital short bowel syndrome oboInOwl:hasDbXref icd11:LB15.2 semapv:UnspecifiedMatching +Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref ICD10:J61 semapv:UnspecifiedMatching +Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref MESH:D001195 semapv:UnspecifiedMatching +Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref MedDRA:10003441 semapv:UnspecifiedMatching +Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref UMLS:C0003949 semapv:UnspecifiedMatching +Orphanet:2302 Asbestos intoxication oboInOwl:hasDbXref icd11:CA60.2 semapv:UnspecifiedMatching +Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref MESH:C535670 semapv:UnspecifiedMatching +Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref UMLS:C2930972 semapv:UnspecifiedMatching +Orphanet:2305 Isotretinoin syndrome oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref MESH:C535542 semapv:UnspecifiedMatching +Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref OMIM:243440 semapv:UnspecifiedMatching +Orphanet:2306 Isotretinoin-like syndrome oboInOwl:hasDbXref UMLS:C0432364 semapv:UnspecifiedMatching +Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref MESH:C535544 semapv:UnspecifiedMatching +Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching +Orphanet:2307 IVIC syndrome oboInOwl:hasDbXref UMLS:C1327918 semapv:UnspecifiedMatching +Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref MESH:D054868 semapv:UnspecifiedMatching +Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref OMIM:147791 semapv:UnspecifiedMatching +Orphanet:2308 Jacobsen syndrome oboInOwl:hasDbXref UMLS:C0795841 semapv:UnspecifiedMatching +Orphanet:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:230800 Toxin-mediated infectious botulism oboInOwl:hasDbXref UMLS:C5679843 semapv:UnspecifiedMatching +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref MESH:C536193 semapv:UnspecifiedMatching +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref OMIM:606408 semapv:UnspecifiedMatching +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref UMLS:C1848029 semapv:UnspecifiedMatching +Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225320 semapv:UnspecifiedMatching +Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5679842 semapv:UnspecifiedMatching +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619115 semapv:UnspecifiedMatching +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:619120 semapv:UnspecifiedMatching +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C4518787 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref ICD10:Q84.5 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref MESH:D053549 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref MedDRA:10080088 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:167200 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:167210 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:260130 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615726 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref OMIM:615728 semapv:UnspecifiedMatching +Orphanet:2309 Pachyonychia congenita oboInOwl:hasDbXref UMLS:C0265334 semapv:UnspecifiedMatching +Orphanet:231 Dracunculiasis oboInOwl:hasDbXref ICD10:B72 semapv:UnspecifiedMatching +Orphanet:231 Dracunculiasis oboInOwl:hasDbXref ICD10:B72 semapv:UnspecifiedMatching +Orphanet:231 Dracunculiasis oboInOwl:hasDbXref MESH:D004320 semapv:UnspecifiedMatching +Orphanet:231 Dracunculiasis oboInOwl:hasDbXref MedDRA:10013618 semapv:UnspecifiedMatching +Orphanet:231 Dracunculiasis oboInOwl:hasDbXref UMLS:C0013100 semapv:UnspecifiedMatching +Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref OMIM:246000 semapv:UnspecifiedMatching +Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref UMLS:C5680711 semapv:UnspecifiedMatching +Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching +Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching +Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref MESH:C536440 semapv:UnspecifiedMatching +Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref OMIM:122450 semapv:UnspecifiedMatching +Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref UMLS:C1852541 semapv:UnspecifiedMatching +Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref ICD10:L59.8 semapv:UnspecifiedMatching +Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref ICD10:L59.8 semapv:UnspecifiedMatching +Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref MESH:C565041 semapv:UnspecifiedMatching +Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref OMIM:133000 semapv:UnspecifiedMatching +Orphanet:231031 Erythema palmare hereditarium oboInOwl:hasDbXref UMLS:C1851502 semapv:UnspecifiedMatching +Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref OMIM:151001 semapv:UnspecifiedMatching +Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref UMLS:C4707357 semapv:UnspecifiedMatching +Orphanet:231040 Familial generalized lentiginosis oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching +Orphanet:231080 High-grade dysplasia in patients with Barrett esophagus oboInOwl:hasDbXref ICD10:K22.7 semapv:UnspecifiedMatching +Orphanet:231080 High-grade dysplasia in patients with Barrett esophagus oboInOwl:hasDbXref UMLS:C5680921 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.8 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref ICD10:Q76.8 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref MESH:C537565 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:277300 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:608681 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:609813 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:613686 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref OMIM:616566 semapv:UnspecifiedMatching +Orphanet:2311 Autosomal recessive spondylocostal dysostosis oboInOwl:hasDbXref UMLS:C0265343 semapv:UnspecifiedMatching +Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching +Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching +Orphanet:231108 Rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref UMLS:C2985524 semapv:UnspecifiedMatching +Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching +Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching +Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref MedDRA:10013706 semapv:UnspecifiedMatching +Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref UMLS:C0263591 semapv:UnspecifiedMatching +Orphanet:231111 Drug-induced lupus erythematosus oboInOwl:hasDbXref icd11:4A40.1 semapv:UnspecifiedMatching +Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 oboInOwl:hasDbXref UMLS:C5680922 semapv:UnspecifiedMatching +Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching +Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation oboInOwl:hasDbXref UMLS:C5680918 semapv:UnspecifiedMatching +Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion oboInOwl:hasDbXref UMLS:C5680919 semapv:UnspecifiedMatching +Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion oboInOwl:hasDbXref UMLS:C5680920 semapv:UnspecifiedMatching +Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref UMLS:C5679840 semapv:UnspecifiedMatching +Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref UMLS:C5680916 semapv:UnspecifiedMatching +Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref UMLS:C5680917 semapv:UnspecifiedMatching +Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref UMLS:C5679841 semapv:UnspecifiedMatching +Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref OMIM:609889 semapv:UnspecifiedMatching +Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency oboInOwl:hasDbXref UMLS:C4510944 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref ICD10:I67.1 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref ICD10:I67.1 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:105800 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:300870 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:608542 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:609122 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:610213 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:611892 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612161 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612162 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612586 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:612587 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:614252 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref OMIM:618734 semapv:UnspecifiedMatching +Orphanet:231160 Familial cerebral saccular aneurysm oboInOwl:hasDbXref UMLS:C3839866 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276904 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:601067 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:602083 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:602097 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:618632 semapv:UnspecifiedMatching +Orphanet:231169 Usher syndrome type 1 oboInOwl:hasDbXref UMLS:C1568247 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:276901 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:605472 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching +Orphanet:231178 Usher syndrome type 2 oboInOwl:hasDbXref UMLS:C0339534 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching +Orphanet:231183 Usher syndrome type 3 oboInOwl:hasDbXref UMLS:C1568248 semapv:UnspecifiedMatching +Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref ICD10:P59.8 semapv:UnspecifiedMatching +Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref ICD10:P59.8 semapv:UnspecifiedMatching +Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref MESH:C562692 semapv:UnspecifiedMatching +Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref OMIM:237900 semapv:UnspecifiedMatching +Orphanet:2312 Transient familial neonatal hyperbilirubinemia oboInOwl:hasDbXref UMLS:C0270210 semapv:UnspecifiedMatching +Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching +Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref UMLS:C0002875 semapv:UnspecifiedMatching +Orphanet:231214 Beta-thalassemia major oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching +Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref MedDRA:10062923 semapv:UnspecifiedMatching +Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching +Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref UMLS:C0472767 semapv:UnspecifiedMatching +Orphanet:231222 Beta-thalassemia intermedia oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching +Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref MESH:C565834 semapv:UnspecifiedMatching +Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching +Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref UMLS:C1858990 semapv:UnspecifiedMatching +Orphanet:231226 Dominant beta-thalassemia oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching +Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly oboInOwl:hasDbXref UMLS:C5679839 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref ICD10:D56.2 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref MESH:C562716 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref MedDRA:10012236 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref UMLS:C0271985 semapv:UnspecifiedMatching +Orphanet:231237 Delta-beta-thalassemia oboInOwl:hasDbXref icd11:3A50.3 semapv:UnspecifiedMatching +Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0221020 semapv:UnspecifiedMatching +Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0472777 semapv:UnspecifiedMatching +Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching +Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:231386 Beta-thalassemia with other manifestations oboInOwl:hasDbXref UMLS:C5680915 semapv:UnspecifiedMatching +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref MESH:C564050 semapv:UnspecifiedMatching +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:314050 semapv:UnspecifiedMatching +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C1839161 semapv:UnspecifiedMatching +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref MESH:D007589 semapv:UnspecifiedMatching +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref OMIM:147060 semapv:UnspecifiedMatching +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref UMLS:C2936739 semapv:UnspecifiedMatching +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref MESH:C563023 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C0585216 semapv:UnspecifiedMatching +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome oboInOwl:hasDbXref icd11:3A50.0Y semapv:UnspecifiedMatching +Orphanet:231413 Variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5679837 semapv:UnspecifiedMatching +Orphanet:231416 Regional variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5679835 semapv:UnspecifiedMatching +Orphanet:231419 Functional variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5679836 semapv:UnspecifiedMatching +Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C5190783 semapv:UnspecifiedMatching +Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref UMLS:C4707803 semapv:UnspecifiedMatching +Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231450 Acute pure sensory neuropathy oboInOwl:hasDbXref UMLS:C5190881 semapv:UnspecifiedMatching +Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref UMLS:C2315246 semapv:UnspecifiedMatching +Orphanet:231457 Acute pandysautonomia oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref UMLS:C4707661 semapv:UnspecifiedMatching +Orphanet:231466 Acute sensory ataxic neuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref MESH:C535880 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref MedDRA:10074947 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref OMIM:243800 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS:C0175692 semapv:UnspecifiedMatching +Orphanet:2315 Johanson-Blizzard syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref OMIM:614073 semapv:UnspecifiedMatching +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref UMLS:C5679834 semapv:UnspecifiedMatching +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614072 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614074 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref OMIM:614075 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref UMLS:C5679833 semapv:UnspecifiedMatching +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614076 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:619172 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref UMLS:C5680913 semapv:UnspecifiedMatching +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching +Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:226440 semapv:UnspecifiedMatching +Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4751165 semapv:UnspecifiedMatching +Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching +Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C5679846 semapv:UnspecifiedMatching +Orphanet:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:231573 Congenital erosive and vesicular dermatosis oboInOwl:hasDbXref UMLS:C4751164 semapv:UnspecifiedMatching +Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:231580 Primary unilateral adrenal hyperplasia oboInOwl:hasDbXref UMLS:C4274967 semapv:UnspecifiedMatching +Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref MESH:C535882 semapv:UnspecifiedMatching +Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref OMIM:147770 semapv:UnspecifiedMatching +Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref UMLS:C0796002 semapv:UnspecifiedMatching +Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref UMLS:C5679847 semapv:UnspecifiedMatching +Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref UMLS:C4755311 semapv:UnspecifiedMatching +Orphanet:231637 Rare surgically correctable form of primary aldosteronism oboInOwl:hasDbXref UMLS:C5680925 semapv:UnspecifiedMatching +Orphanet:231641 Rare non surgically correctable form of primary aldosteronism oboInOwl:hasDbXref UMLS:C5680926 semapv:UnspecifiedMatching +Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching +Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:618160 semapv:UnspecifiedMatching +Orphanet:231662 Isolated growth hormone deficiency type IA oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref MESH:C567564 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:618157 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref UMLS:C2748571 semapv:UnspecifiedMatching +Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching +Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref MESH:C562704 semapv:UnspecifiedMatching +Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching +Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref UMLS:C0271567 semapv:UnspecifiedMatching +Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching +Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching +Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching +Orphanet:231692 Isolated growth hormone deficiency type III oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching +Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref OMIM:221750 semapv:UnspecifiedMatching +Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome oboInOwl:hasDbXref UMLS:C4749825 semapv:UnspecifiedMatching +Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome oboInOwl:hasDbXref UMLS:C4751163 semapv:UnspecifiedMatching +Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching +Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching +Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome oboInOwl:hasDbXref UMLS:C5680927 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref MESH:C537430 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:243910 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:608091 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:610188 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:612285 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:614465 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref OMIM:614844 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref UMLS:C1855675 semapv:UnspecifiedMatching +Orphanet:2318 Joubert syndrome with oculorenal defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref MESH:C537690 semapv:UnspecifiedMatching +Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref OMIM:216100 semapv:UnspecifiedMatching +Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref UMLS:C0796099 semapv:UnspecifiedMatching +Orphanet:2319 Juberg-Hayward syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.1 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref MESH:D000755 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref MedDRA:10040641 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref OMIM:603903 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref icd11:3A51.1 semapv:UnspecifiedMatching +Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref icd11:3A51.2 semapv:UnspecifiedMatching +Orphanet:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2321 Jung syndrome oboInOwl:hasDbXref MESH:C537694 semapv:UnspecifiedMatching +Orphanet:2321 Jung syndrome oboInOwl:hasDbXref OMIM:601427 semapv:UnspecifiedMatching +Orphanet:2321 Jung syndrome oboInOwl:hasDbXref UMLS:C1275130 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref MESH:C537705 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref MedDRA:10063935 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref OMIM:147920 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref OMIM:300867 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref UMLS:C0796004 semapv:UnspecifiedMatching +Orphanet:2322 Kabuki syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:232288 Syndrome with alpha-thalassemia as a major feature oboInOwl:hasDbXref UMLS:C5680928 semapv:UnspecifiedMatching +Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref MESH:C537157 semapv:UnspecifiedMatching +Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref OMIM:241410 semapv:UnspecifiedMatching +Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref UMLS:C1855840 semapv:UnspecifiedMatching +Orphanet:2323 Sanjad-Sakati syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref MESH:C537706 semapv:UnspecifiedMatching +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref OMIM:259690 semapv:UnspecifiedMatching +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome oboInOwl:hasDbXref UMLS:C1850140 semapv:UnspecifiedMatching +Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia oboInOwl:hasDbXref UMLS:C0432313 semapv:UnspecifiedMatching +Orphanet:2326 Kallmann syndrome-heart disease syndrome oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:2326 Kallmann syndrome-heart disease syndrome oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:2326 Kallmann syndrome-heart disease syndrome oboInOwl:hasDbXref UMLS:C4302897 semapv:UnspecifiedMatching +Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref MESH:C537008 semapv:UnspecifiedMatching +Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref OMIM:244300 semapv:UnspecifiedMatching +Orphanet:2328 Kapur-Toriello syndrome oboInOwl:hasDbXref UMLS:C0796005 semapv:UnspecifiedMatching +Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref MESH:C537319 semapv:UnspecifiedMatching +Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref OMIM:183800 semapv:UnspecifiedMatching +Orphanet:2329 Karsch-Neugebauer syndrome oboInOwl:hasDbXref UMLS:C1866740 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref MESH:D004370 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref MedDRA:10013799 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:126800 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref OMIM:617041 semapv:UnspecifiedMatching +Orphanet:233 Duane retraction syndrome oboInOwl:hasDbXref UMLS:C0013261 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref MESH:D059885 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref MedDRA:10058423 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref OMIM:141000 semapv:UnspecifiedMatching +Orphanet:2330 Kasabach-Merritt phenomenon oboInOwl:hasDbXref UMLS:C0221025 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref ICD10:M30.3 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref ICD10:M30.3 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref MESH:D009080 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref MedDRA:10023320 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 semapv:UnspecifiedMatching +Orphanet:2331 Kawasaki disease oboInOwl:hasDbXref UMLS:C0026691 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref MESH:C537015 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref MedDRA:10084411 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref OMIM:148050 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref UMLS:C0220687 semapv:UnspecifiedMatching +Orphanet:2332 KBG syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref MedDRA:10073228 semapv:UnspecifiedMatching +Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching +Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching +Orphanet:2333 Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C0265291 semapv:UnspecifiedMatching +Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching +Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching +Orphanet:2334 Autosomal dominant keratitis oboInOwl:hasDbXref UMLS:C1835698 semapv:UnspecifiedMatching +Orphanet:233655 Rare genetic vascular disease oboInOwl:hasDbXref UMLS:C5680923 semapv:UnspecifiedMatching +Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref OMIM:600231 semapv:UnspecifiedMatching +Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref UMLS:C4274840 semapv:UnspecifiedMatching +Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:2338 Isolated punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679617 semapv:UnspecifiedMatching +Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref MESH:C536158 semapv:UnspecifiedMatching +Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:308830 semapv:UnspecifiedMatching +Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C4510086 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref MedDRA:10013800 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS:C0022350 semapv:UnspecifiedMatching +Orphanet:234 Dubin-Johnson syndrome oboInOwl:hasDbXref icd11:5C58.02 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref MESH:C536159 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:308800 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:612843 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref UMLS:C0343057 semapv:UnspecifiedMatching +Orphanet:2340 Keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching +Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref MESH:C537627 semapv:UnspecifiedMatching +Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref OMIM:245010 semapv:UnspecifiedMatching +Orphanet:2342 Haim-Munk syndrome oboInOwl:hasDbXref UMLS:C1855627 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref MESH:D007714 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref MedDRA:10023464 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:118100 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:214300 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:613702 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref UMLS:C0022738 semapv:UnspecifiedMatching +Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref icd11:LB73.20 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref MESH:D007715 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:608355 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref UMLS:C0022739 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref icd11:LD26.60 semapv:UnspecifiedMatching +Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref MESH:C537208 semapv:UnspecifiedMatching +Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref OMIM:245190 semapv:UnspecifiedMatching +Orphanet:2347 Lethal Kniest-like dysplasia oboInOwl:hasDbXref UMLS:C1855605 semapv:UnspecifiedMatching +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref MESH:C537211 semapv:UnspecifiedMatching +Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref UMLS:C0270958 semapv:UnspecifiedMatching +Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref MESH:C535718 semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref MedDRA:10059589 semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref OMIM:223370 semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref UMLS:C0175691 semapv:UnspecifiedMatching +Orphanet:235 Dubowitz syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2351 Kousseff syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2351 Kousseff syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2351 Kousseff syndrome oboInOwl:hasDbXref MESH:C537223 semapv:UnspecifiedMatching +Orphanet:2351 Kousseff syndrome oboInOwl:hasDbXref UMLS:C2931444 semapv:UnspecifiedMatching +Orphanet:2352 Kozlowski-Brown-Hardwick syndrome oboInOwl:hasDbXref MESH:C537506 semapv:UnspecifiedMatching +Orphanet:2352 Kozlowski-Brown-Hardwick syndrome oboInOwl:hasDbXref UMLS:C2931511 semapv:UnspecifiedMatching +Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref MESH:C563509 semapv:UnspecifiedMatching +Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref OMIM:164220 semapv:UnspecifiedMatching +Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref UMLS:C1834038 semapv:UnspecifiedMatching +Orphanet:2353 Schilbach-Rott syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2355 Kumar-Levick syndrome oboInOwl:hasDbXref OMIM:106990 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref MESH:D016080 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref MedDRA:10049005 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref OMIM:182990 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref OMIM:207790 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref UMLS:C0078981 semapv:UnspecifiedMatching +Orphanet:2356 Arachnoid cyst oboInOwl:hasDbXref icd11:8D67 semapv:UnspecifiedMatching +Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref MESH:D001994 semapv:UnspecifiedMatching +Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref MedDRA:10064585 semapv:UnspecifiedMatching +Orphanet:2357 Bronchogenic cyst oboInOwl:hasDbXref UMLS:C0006281 semapv:UnspecifiedMatching +Orphanet:235832 Congenital vascular bone syndrome oboInOwl:hasDbXref UMLS:C5680924 semapv:UnspecifiedMatching +Orphanet:235936 Familial hyperaldosteronism oboInOwl:hasDbXref MESH:C580087 semapv:UnspecifiedMatching +Orphanet:235936 Familial hyperaldosteronism oboInOwl:hasDbXref UMLS:C3713420 semapv:UnspecifiedMatching +Orphanet:236 Trisomy 9p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:236 Trisomy 9p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:236 Trisomy 9p oboInOwl:hasDbXref UMLS:C0265428 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref MESH:C538132 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref MedDRA:10085252 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:149730 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:620192 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref OMIM:620193 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref UMLS:C0265269 semapv:UnspecifiedMatching +Orphanet:2363 Lacrimoauriculodentodigital syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:612933 semapv:UnspecifiedMatching +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614128 semapv:UnspecifiedMatching +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5575057 semapv:UnspecifiedMatching +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref ICD10:Q79.3 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref MESH:D020139 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref MedDRA:10018046 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching +Orphanet:2368 Gastroschisis oboInOwl:hasDbXref UMLS:C0265706 semapv:UnspecifiedMatching +Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref UMLS:C4274839 semapv:UnspecifiedMatching +Orphanet:2369 Limb body wall complex oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:237 Duplication of urethra oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching +Orphanet:237 Duplication of urethra oboInOwl:hasDbXref UMLS:C0266348 semapv:UnspecifiedMatching +Orphanet:237 Duplication of urethra oboInOwl:hasDbXref icd11:LB31.5 semapv:UnspecifiedMatching +Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref OMIM:608545 semapv:UnspecifiedMatching +Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref UMLS:C4707236 semapv:UnspecifiedMatching +Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref MESH:C537872 semapv:UnspecifiedMatching +Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref OMIM:245650 semapv:UnspecifiedMatching +Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref UMLS:C4304741 semapv:UnspecifiedMatching +Orphanet:2371 Lethal Larsen-like syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:2372 Laryngocele oboInOwl:hasDbXref ICD10:Q31.3 semapv:UnspecifiedMatching +Orphanet:2372 Laryngocele oboInOwl:hasDbXref MESH:D059608 semapv:UnspecifiedMatching +Orphanet:2372 Laryngocele oboInOwl:hasDbXref MedDRA:10023885 semapv:UnspecifiedMatching +Orphanet:2372 Laryngocele oboInOwl:hasDbXref UMLS:C0265761 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref ICD10:Q31.5 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref MESH:D055092 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref MedDRA:10060786 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref OMIM:150280 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref UMLS:C0345160 semapv:UnspecifiedMatching +Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref icd11:LA71.0 semapv:UnspecifiedMatching +Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching +Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching +Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref MedDRA:10023871 semapv:UnspecifiedMatching +Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref OMIM:150360 semapv:UnspecifiedMatching +Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref UMLS:C0152416 semapv:UnspecifiedMatching +Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:308850 semapv:UnspecifiedMatching +Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4319572 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MESH:D007849 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref MedDRA:10056710 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref OMIM:245800 semapv:UnspecifiedMatching +Orphanet:2377 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS:C0023138 semapv:UnspecifiedMatching +Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref MESH:C535689 semapv:UnspecifiedMatching +Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref OMIM:135750 semapv:UnspecifiedMatching +Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref UMLS:C1851100 semapv:UnspecifiedMatching +Orphanet:2378 Laurin-Sandrow syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537179 semapv:UnspecifiedMatching +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796195 semapv:UnspecifiedMatching +Orphanet:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:238 Digestive duplication oboInOwl:hasDbXref UMLS:C5681230 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MESH:D007873 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MedDRA:10034735 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref OMIM:150600 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MESH:D065768 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MedDRA:10048816 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:616346 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:617113 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:618141 semapv:UnspecifiedMatching +Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref UMLS:C0238111 semapv:UnspecifiedMatching +Orphanet:238269 AApoAII amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:238269 AApoAII amyloidosis oboInOwl:hasDbXref UMLS:C5679845 semapv:UnspecifiedMatching +Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:238305 Infundibulo-neurohypophysitis oboInOwl:hasDbXref UMLS:C5190834 semapv:UnspecifiedMatching +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref OMIM:300816 semapv:UnspecifiedMatching +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS:C4302745 semapv:UnspecifiedMatching +Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref OMIM:608636 semapv:UnspecifiedMatching +Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304726 semapv:UnspecifiedMatching +Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.E semapv:UnspecifiedMatching +Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref MESH:C567730 semapv:UnspecifiedMatching +Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref OMIM:613135 semapv:UnspecifiedMatching +Orphanet:238455 Infantile dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C2751067 semapv:UnspecifiedMatching +Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref MESH:C567040 semapv:UnspecifiedMatching +Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref OMIM:603585 semapv:UnspecifiedMatching +Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref UMLS:C1970344 semapv:UnspecifiedMatching +Orphanet:238459 SLC35A1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching +Orphanet:238468 Hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching +Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:607748 semapv:UnspecifiedMatching +Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:619232 semapv:UnspecifiedMatching +Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref OMIM:619256 semapv:UnspecifiedMatching +Orphanet:238475 Familial hypercholanemia oboInOwl:hasDbXref UMLS:C1843139 semapv:UnspecifiedMatching +Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref OMIM:615122 semapv:UnspecifiedMatching +Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref UMLS:C3554540 semapv:UnspecifiedMatching +Orphanet:238510 Lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C0024314 semapv:UnspecifiedMatching +Orphanet:238517 Hypotonia-cystinuria type 1 syndrome oboInOwl:hasDbXref UMLS:C5680931 semapv:UnspecifiedMatching +Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching +Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref UMLS:C4755274 semapv:UnspecifiedMatching +Orphanet:238536 Congenital secondary polycythemia oboInOwl:hasDbXref UMLS:C5679848 semapv:UnspecifiedMatching +Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref OMIM:263400 semapv:UnspecifiedMatching +Orphanet:238557 Chuvash erythrocytosis oboInOwl:hasDbXref UMLS:C4749274 semapv:UnspecifiedMatching +Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:612567 semapv:UnspecifiedMatching +Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref OMIM:613148 semapv:UnspecifiedMatching +Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome oboInOwl:hasDbXref UMLS:C4749850 semapv:UnspecifiedMatching +Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication oboInOwl:hasDbXref OMIM:613618 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:261630 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:261640 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency oboInOwl:hasDbXref UMLS:C0751436 semapv:UnspecifiedMatching +Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref ICD10:K65.8 semapv:UnspecifiedMatching +Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref MedDRA:10063031 semapv:UnspecifiedMatching +Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref UMLS:C0267770 semapv:UnspecifiedMatching +Orphanet:238593 IgG4-related mesenteritis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4749769 semapv:UnspecifiedMatching +Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref ICD10:G25.2 semapv:UnspecifiedMatching +Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref ICD10:G25.2 semapv:UnspecifiedMatching +Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref MESH:C536418 semapv:UnspecifiedMatching +Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref UMLS:C0878578 semapv:UnspecifiedMatching +Orphanet:238606 Primary orthostatic tremor oboInOwl:hasDbXref icd11:8A04.1 semapv:UnspecifiedMatching +Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching +Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref UMLS:C5680933 semapv:UnspecifiedMatching +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.1 semapv:UnspecifiedMatching +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching +Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching +Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching +Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching +Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref UMLS:C5680932 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref UMLS:C0033845 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref icd11:8D60.Y semapv:UnspecifiedMatching +Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref ICD10:Q62.7 semapv:UnspecifiedMatching +Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref UMLS:C0431752 semapv:UnspecifiedMatching +Orphanet:238637 Megacystis-megaureter syndrome oboInOwl:hasDbXref icd11:LB31.7 semapv:UnspecifiedMatching +Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238642 Primary megaureter, adult-onset form oboInOwl:hasDbXref UMLS:C5680937 semapv:UnspecifiedMatching +Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238646 Congenital primary megaureter, obstructed form oboInOwl:hasDbXref UMLS:C5680936 semapv:UnspecifiedMatching +Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238650 Congenital primary megaureter, refluxing form oboInOwl:hasDbXref UMLS:C5680935 semapv:UnspecifiedMatching +Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form oboInOwl:hasDbXref UMLS:C5680934 semapv:UnspecifiedMatching +Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5679849 semapv:UnspecifiedMatching +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref OMIM:275120 semapv:UnspecifiedMatching +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency oboInOwl:hasDbXref UMLS:C0271585 semapv:UnspecifiedMatching +Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:238688 Neonatal iodine exposure oboInOwl:hasDbXref UMLS:C4751432 semapv:UnspecifiedMatching +Orphanet:238696 Transient congenital hypothyroidism due to maternal factor oboInOwl:hasDbXref UMLS:C5680929 semapv:UnspecifiedMatching +Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor oboInOwl:hasDbXref UMLS:C5680930 semapv:UnspecifiedMatching +Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref ICD10:Q84.4 semapv:UnspecifiedMatching +Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref MESH:C535889 semapv:UnspecifiedMatching +Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref OMIM:151600 semapv:UnspecifiedMatching +Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref UMLS:C4551625 semapv:UnspecifiedMatching +Orphanet:2387 Leukonychia totalis oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:157600 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:614508 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:616059 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref OMIM:618264 semapv:UnspecifiedMatching +Orphanet:238722 Familial congenital mirror movements oboInOwl:hasDbXref UMLS:C5191311 semapv:UnspecifiedMatching +Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref OMIM:613689 semapv:UnspecifiedMatching +Orphanet:238744 Mammary-digital-nail syndrome oboInOwl:hasDbXref UMLS:C3150946 semapv:UnspecifiedMatching +Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref OMIM:613509 semapv:UnspecifiedMatching +Orphanet:238750 4q21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304530 semapv:UnspecifiedMatching +Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref OMIM:251750 semapv:UnspecifiedMatching +Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref UMLS:C5190883 semapv:UnspecifiedMatching +Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304540 semapv:UnspecifiedMatching +Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref MedDRA:10081505 semapv:UnspecifiedMatching +Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref OMIM:200150 semapv:UnspecifiedMatching +Orphanet:2388 Choreoacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref MESH:C535726 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:223800 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:304950 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref UMLS:C0265286 semapv:UnspecifiedMatching +Orphanet:239 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref MESH:C535894 semapv:UnspecifiedMatching +Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref OMIM:246550 semapv:UnspecifiedMatching +Orphanet:2390 Lichtenstein syndrome oboInOwl:hasDbXref UMLS:C1855502 semapv:UnspecifiedMatching +Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref MESH:C536448 semapv:UnspecifiedMatching +Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref OMIM:122580 semapv:UnspecifiedMatching +Orphanet:2391 Congenitally short costocoracoid ligament oboInOwl:hasDbXref UMLS:C1852523 semapv:UnspecifiedMatching +Orphanet:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:2394 Pyruvate dehydrogenase E3 deficiency oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching +Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref MESH:C535736 semapv:UnspecifiedMatching +Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref OMIM:613001 semapv:UnspecifiedMatching +Orphanet:2396 Encephalocraniocutaneous lipomatosis oboInOwl:hasDbXref UMLS:C0406612 semapv:UnspecifiedMatching +Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref MESH:D008069 semapv:UnspecifiedMatching +Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 semapv:UnspecifiedMatching +Orphanet:2398 Multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0023804 semapv:UnspecifiedMatching +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref MESH:C538338 semapv:UnspecifiedMatching +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref OMIM:167730 semapv:UnspecifiedMatching +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome oboInOwl:hasDbXref UMLS:C1868660 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref MedDRA:10088204 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref OMIM:606812 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref UMLS:C2936826 semapv:UnspecifiedMatching +Orphanet:24 Fumaric aciduria oboInOwl:hasDbXref icd11:5C53.1 semapv:UnspecifiedMatching +Orphanet:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref MESH:C537119 semapv:UnspecifiedMatching +Orphanet:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref OMIM:127300 semapv:UnspecifiedMatching +Orphanet:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS:C0265309 semapv:UnspecifiedMatching +Orphanet:240 Léri-Weill dyschondrosteosis oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref MESH:C536988 semapv:UnspecifiedMatching +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref OMIM:252320 semapv:UnspecifiedMatching +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome oboInOwl:hasDbXref UMLS:C1854961 semapv:UnspecifiedMatching +Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:601104 semapv:UnspecifiedMatching +Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching +Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref UMLS:C5679851 semapv:UnspecifiedMatching +Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref UMLS:C5679850 semapv:UnspecifiedMatching +Orphanet:240371 Syndromic obesity oboInOwl:hasDbXref UMLS:C5680938 semapv:UnspecifiedMatching +Orphanet:2404 Loiasis oboInOwl:hasDbXref ICD10:B74.3 semapv:UnspecifiedMatching +Orphanet:2404 Loiasis oboInOwl:hasDbXref MESH:D008118 semapv:UnspecifiedMatching +Orphanet:2404 Loiasis oboInOwl:hasDbXref MedDRA:10024797 semapv:UnspecifiedMatching +Orphanet:2404 Loiasis oboInOwl:hasDbXref UMLS:C0023968 semapv:UnspecifiedMatching +Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref ICD10:H90.0 semapv:UnspecifiedMatching +Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref ICD10:H90.0 semapv:UnspecifiedMatching +Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref OMIM:128980 semapv:UnspecifiedMatching +Orphanet:2405 Thickened earlobes-conductive deafness syndrome oboInOwl:hasDbXref UMLS:C4302507 semapv:UnspecifiedMatching +Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref ICD10:G83.8 semapv:UnspecifiedMatching +Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref ICD10:G83.8 semapv:UnspecifiedMatching +Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref MESH:D000080422 semapv:UnspecifiedMatching +Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref MedDRA:10024792 semapv:UnspecifiedMatching +Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref UMLS:C0023944 semapv:UnspecifiedMatching +Orphanet:2406 Locked-in syndrome oboInOwl:hasDbXref icd11:8E45 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref MESH:C537032 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref MedDRA:10062987 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref OMIM:245660 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref UMLS:C1328355 semapv:UnspecifiedMatching +Orphanet:2407 Laryngo-onycho-cutaneous syndrome oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching +Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref MESH:C567767 semapv:UnspecifiedMatching +Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref OMIM:613078 semapv:UnspecifiedMatching +Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref UMLS:C2751318 semapv:UnspecifiedMatching +Orphanet:240760 Nijmegen breakage syndrome-like disorder oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching +Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2408 Lowe-Kohn-Cohen syndrome oboInOwl:hasDbXref UMLS:C4707726 semapv:UnspecifiedMatching +Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref MESH:C537037 semapv:UnspecifiedMatching +Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref OMIM:600252 semapv:UnspecifiedMatching +Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref UMLS:C0796020 semapv:UnspecifiedMatching +Orphanet:2409 Lowry-MacLean syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref MESH:C535730 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:127500 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:612715 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:615402 semapv:UnspecifiedMatching +Orphanet:241 Dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS:C2930995 semapv:UnspecifiedMatching +Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref MESH:C543092 semapv:UnspecifiedMatching +Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref OMIM:240950 semapv:UnspecifiedMatching +Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome oboInOwl:hasDbXref UMLS:C1855859 semapv:UnspecifiedMatching +Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref OMIM:601450 semapv:UnspecifiedMatching +Orphanet:2412 Dislocation of the hip-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4706570 semapv:UnspecifiedMatching +Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching +Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref ICD10:Q33.8 semapv:UnspecifiedMatching +Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref MESH:C537727 semapv:UnspecifiedMatching +Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref OMIM:265300 semapv:UnspecifiedMatching +Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref UMLS:C1849554 semapv:UnspecifiedMatching +Orphanet:2414 Congenital pulmonary lymphangiectasia oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching +Orphanet:2415 Rare lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:2415 Rare lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:2415 Rare lymphatic malformation oboInOwl:hasDbXref UMLS:C5575909 semapv:UnspecifiedMatching +Orphanet:2415 Rare lymphatic malformation oboInOwl:hasDbXref icd11:LA90.1 semapv:UnspecifiedMatching +Orphanet:2416 Congenital primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5680523 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref MedDRA:10084327 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:233420 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:300018 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:400044 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:613080 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching +Orphanet:242 46,XY complete gonadal dysgenesis oboInOwl:hasDbXref UMLS:C2936694 semapv:UnspecifiedMatching +Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref MedDRA:10037418 semapv:UnspecifiedMatching +Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref UMLS:C4273669 semapv:UnspecifiedMatching +Orphanet:2420 Primary pulmonary lymphoma oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref MESH:C537718 semapv:UnspecifiedMatching +Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome oboInOwl:hasDbXref UMLS:C2931595 semapv:UnspecifiedMatching +Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref MESH:C563963 semapv:UnspecifiedMatching +Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref OMIM:600302 semapv:UnspecifiedMatching +Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1838281 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref MESH:D023961 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:233300 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:300510 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:614324 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618078 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618117 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref OMIM:618723 semapv:UnspecifiedMatching +Orphanet:243 46,XX gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0949595 semapv:UnspecifiedMatching +Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching +Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching +Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref MESH:C531735 semapv:UnspecifiedMatching +Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref OMIM:153630 semapv:UnspecifiedMatching +Orphanet:2430 Congenital macroglossia oboInOwl:hasDbXref UMLS:C0009677 semapv:UnspecifiedMatching +Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref MESH:C537830 semapv:UnspecifiedMatching +Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref OMIM:248110 semapv:UnspecifiedMatching +Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome oboInOwl:hasDbXref UMLS:C4721892 semapv:UnspecifiedMatching +Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref MESH:C565278 semapv:UnspecifiedMatching +Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:605850 semapv:UnspecifiedMatching +Orphanet:243343 Dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1853892 semapv:UnspecifiedMatching +Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching +Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching +Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MESH:C537957 semapv:UnspecifiedMatching +Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref MedDRA:10000746 semapv:UnspecifiedMatching +Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref UMLS:C1455728 semapv:UnspecifiedMatching +Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 oboInOwl:hasDbXref ICD10:E10 semapv:UnspecifiedMatching +Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537836 semapv:UnspecifiedMatching +Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1835172 semapv:UnspecifiedMatching +Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref MESH:C566662 semapv:UnspecifiedMatching +Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref OMIM:183802 semapv:UnspecifiedMatching +Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref UMLS:C1866739 semapv:UnspecifiedMatching +Orphanet:243761 NON RARE IN EUROPE: Essential hypertension oboInOwl:hasDbXref ICD10:I10 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref MESH:C535627 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref MedDRA:10072361 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref OMIM:140000 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref UMLS:C1841679 semapv:UnspecifiedMatching +Orphanet:2438 Hand-foot-genital syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2439 Patterson-Stevenson-Fontaine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2439 Patterson-Stevenson-Fontaine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2439 Patterson-Stevenson-Fontaine syndrome oboInOwl:hasDbXref OMIM:183700 semapv:UnspecifiedMatching +Orphanet:2439 Patterson-Stevenson-Fontaine syndrome oboInOwl:hasDbXref UMLS:C5574964 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref MedDRA:10069713 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:215518 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:215520 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:242670 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:242680 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:300991 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:606763 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608644 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608646 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:608647 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:610852 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:611884 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612274 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612444 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612518 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612649 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:612650 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613193 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613807 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:613808 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614017 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614679 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614874 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:614935 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615067 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615294 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615444 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615451 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615481 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615482 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615500 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615504 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615505 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:615872 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616037 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616481 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:616726 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617091 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617092 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:617577 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618063 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618254 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618449 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618695 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618781 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:618801 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:619436 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:620032 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref OMIM:620197 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref UMLS:C4551720 semapv:UnspecifiedMatching +Orphanet:244 Primary ciliary dyskinesia oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref MedDRA:10079827 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:183600 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:225300 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:313350 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:605289 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref OMIM:606708 semapv:UnspecifiedMatching +Orphanet:2440 Isolated split hand-split foot malformation oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching +Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref MESH:D008232 semapv:UnspecifiedMatching +Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref MedDRA:10068348 semapv:UnspecifiedMatching +Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching +Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching +Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref UMLS:C0549463 semapv:UnspecifiedMatching +Orphanet:2442 X-linked lymphoproliferative disease oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching +Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref MESH:D017359 semapv:UnspecifiedMatching +Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref MedDRA:10049058 semapv:UnspecifiedMatching +Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref UMLS:C0162739 semapv:UnspecifiedMatching +Orphanet:244242 HELLP syndrome oboInOwl:hasDbXref icd11:JA24.2 semapv:UnspecifiedMatching +Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation oboInOwl:hasDbXref UMLS:C5680696 semapv:UnspecifiedMatching +Orphanet:244283 Biliary atresia with splenic malformation syndrome oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching +Orphanet:244283 Biliary atresia with splenic malformation syndrome oboInOwl:hasDbXref UMLS:C4274029 semapv:UnspecifiedMatching +Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies oboInOwl:hasDbXref UMLS:C5679573 semapv:UnspecifiedMatching +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref OMIM:612286 semapv:UnspecifiedMatching +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref OMIM:612287 semapv:UnspecifiedMatching +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis oboInOwl:hasDbXref UMLS:C5191009 semapv:UnspecifiedMatching +Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref MESH:C567437 semapv:UnspecifiedMatching +Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref OMIM:612015 semapv:UnspecifiedMatching +Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref UMLS:C2677590 semapv:UnspecifiedMatching +Orphanet:244310 RFT1-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref MESH:D015615 semapv:UnspecifiedMatching +Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref MedDRA:10087693 semapv:UnspecifiedMatching +Orphanet:2444 Congenital pulmonary airway malformation oboInOwl:hasDbXref UMLS:C0010668 semapv:UnspecifiedMatching +Orphanet:2445 Conotruncal heart malformations oboInOwl:hasDbXref MESH:C535464 semapv:UnspecifiedMatching +Orphanet:2445 Conotruncal heart malformations oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching +Orphanet:2445 Conotruncal heart malformations oboInOwl:hasDbXref UMLS:C1857586 semapv:UnspecifiedMatching +Orphanet:2447 Congenital mitral malformation oboInOwl:hasDbXref UMLS:C5680882 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref MESH:C538184 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref MedDRA:10084410 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref UMLS:C0265245 semapv:UnspecifiedMatching +Orphanet:245 Nager syndrome oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref MESH:C563977 semapv:UnspecifiedMatching +Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref OMIM:600195 semapv:UnspecifiedMatching +Orphanet:2451 Mucocutaneous venous malformations oboInOwl:hasDbXref UMLS:C1838437 semapv:UnspecifiedMatching +Orphanet:2453 Malpuech syndrome oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching +Orphanet:2453 Malpuech syndrome oboInOwl:hasDbXref UMLS:C0796032 semapv:UnspecifiedMatching +Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching +Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref ICD10:Q83.3 semapv:UnspecifiedMatching +Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref OMIM:163700 semapv:UnspecifiedMatching +Orphanet:2456 Familial supernumerary nipples oboInOwl:hasDbXref UMLS:C4707878 semapv:UnspecifiedMatching +Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching +Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching +Orphanet:2457 Mandibuloacral dysplasia oboInOwl:hasDbXref UMLS:C0432291 semapv:UnspecifiedMatching +Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref ICD10:B74.4 semapv:UnspecifiedMatching +Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref MESH:D008368 semapv:UnspecifiedMatching +Orphanet:2459 Mansonelliasis oboInOwl:hasDbXref UMLS:C0024759 semapv:UnspecifiedMatching +Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref MESH:C537680 semapv:UnspecifiedMatching +Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref OMIM:263750 semapv:UnspecifiedMatching +Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS:C0265257 semapv:UnspecifiedMatching +Orphanet:246 Postaxial acrofacial dysostosis oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref MESH:C535909 semapv:UnspecifiedMatching +Orphanet:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref OMIM:600920 semapv:UnspecifiedMatching +Orphanet:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref UMLS:C1833136 semapv:UnspecifiedMatching +Orphanet:2460 Van den Ende-Gupta syndrome oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:2461 Marden-Walker syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2461 Marden-Walker syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2461 Marden-Walker syndrome oboInOwl:hasDbXref MESH:C535910 semapv:UnspecifiedMatching +Orphanet:2461 Marden-Walker syndrome oboInOwl:hasDbXref OMIM:248700 semapv:UnspecifiedMatching +Orphanet:2461 Marden-Walker syndrome oboInOwl:hasDbXref UMLS:C0796033 semapv:UnspecifiedMatching +Orphanet:2461 Marden-Walker syndrome oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref MESH:C537328 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref MedDRA:10082234 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref OMIM:182212 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref UMLS:C1321551 semapv:UnspecifiedMatching +Orphanet:2462 Shprintzen-Goldberg syndrome oboInOwl:hasDbXref icd11:LD28.0Y semapv:UnspecifiedMatching +Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref OMIM:248770 semapv:UnspecifiedMatching +Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4518565 semapv:UnspecifiedMatching +Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref OMIM:223330 semapv:UnspecifiedMatching +Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref UMLS:C4517371 semapv:UnspecifiedMatching +Orphanet:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2466 MASA syndrome oboInOwl:hasDbXref MESH:C536029 semapv:UnspecifiedMatching +Orphanet:2466 MASA syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching +Orphanet:2466 MASA syndrome oboInOwl:hasDbXref UMLS:C0795953 semapv:UnspecifiedMatching +Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching +Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref MedDRA:10042949 semapv:UnspecifiedMatching +Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref UMLS:C0221013 semapv:UnspecifiedMatching +Orphanet:2467 Systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0 semapv:UnspecifiedMatching +Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref MESH:D019571 semapv:UnspecifiedMatching +Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref MedDRA:10058093 semapv:UnspecifiedMatching +Orphanet:247 Inherited arrhythmogenic cardiomyopathy oboInOwl:hasDbXref UMLS:C0349788 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref MESH:C537768 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref OMIM:615524 semapv:UnspecifiedMatching +Orphanet:2470 Matthew-Wood syndrome oboInOwl:hasDbXref UMLS:C1832661 semapv:UnspecifiedMatching +Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref MESH:C538158 semapv:UnspecifiedMatching +Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref OMIM:248950 semapv:UnspecifiedMatching +Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref UMLS:C0796038 semapv:UnspecifiedMatching +Orphanet:2471 McDonough syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching +Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref UMLS:C4553710 semapv:UnspecifiedMatching +Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref OMIM:615851 semapv:UnspecifiedMatching +Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref UMLS:C4014488 semapv:UnspecifiedMatching +Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref UMLS:C1266044 semapv:UnspecifiedMatching +Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology oboInOwl:hasDbXref UMLS:C4518339 semapv:UnspecifiedMatching +Orphanet:247239 Non-hereditary degenerative ataxia oboInOwl:hasDbXref UMLS:C5680697 semapv:UnspecifiedMatching +Orphanet:247239 Non-hereditary degenerative ataxia oboInOwl:hasDbXref icd11:8A03.2 semapv:UnspecifiedMatching +Orphanet:247242 Acquired ataxia oboInOwl:hasDbXref UMLS:C4302112 semapv:UnspecifiedMatching +Orphanet:247242 Acquired ataxia oboInOwl:hasDbXref icd11:8A03.3 semapv:UnspecifiedMatching +Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching +Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching +Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 semapv:UnspecifiedMatching +Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref MedDRA:10035667 semapv:UnspecifiedMatching +Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref UMLS:C0155866 semapv:UnspecifiedMatching +Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref icd11:1B97 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C565495 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:239300 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:614207 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:614749 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615716 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616025 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616809 semapv:UnspecifiedMatching +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1855923 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref MedDRA:10052312 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching +Orphanet:2473 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS:C0948368 semapv:UnspecifiedMatching +Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching +Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching +Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching +Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref OMIM:616106 semapv:UnspecifiedMatching +Orphanet:247353 Generalized pustular psoriasis oboInOwl:hasDbXref UMLS:C0343055 semapv:UnspecifiedMatching +Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene oboInOwl:hasDbXref UMLS:C5191076 semapv:UnspecifiedMatching +Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref MESH:C536700 semapv:UnspecifiedMatching +Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref OMIM:277740 semapv:UnspecifiedMatching +Orphanet:2475 White forelock with malformations oboInOwl:hasDbXref UMLS:C1848463 semapv:UnspecifiedMatching +Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:609820 semapv:UnspecifiedMatching +Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref OMIM:611783 semapv:UnspecifiedMatching +Orphanet:247511 Autosomal dominant secondary polycythemia oboInOwl:hasDbXref UMLS:C5190864 semapv:UnspecifiedMatching +Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching +Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching +Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300455 semapv:UnspecifiedMatching +Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4304829 semapv:UnspecifiedMatching +Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching +Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref MedDRA:10058298 semapv:UnspecifiedMatching +Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching +Orphanet:247525 Citrullinemia type I oboInOwl:hasDbXref UMLS:C4721769 semapv:UnspecifiedMatching +Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching +Orphanet:247546 Acute neonatal citrullinemia type I oboInOwl:hasDbXref UMLS:C5679618 semapv:UnspecifiedMatching +Orphanet:247573 Late-onset citrullinemia type I oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247573 Late-onset citrullinemia type I oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching +Orphanet:247582 Citrin deficiency oboInOwl:hasDbXref UMLS:C1997910 semapv:UnspecifiedMatching +Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref MESH:C538053 semapv:UnspecifiedMatching +Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref OMIM:603471 semapv:UnspecifiedMatching +Orphanet:247585 Citrullinemia type II oboInOwl:hasDbXref UMLS:C1863844 semapv:UnspecifiedMatching +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref OMIM:605814 semapv:UnspecifiedMatching +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency oboInOwl:hasDbXref UMLS:C1853942 semapv:UnspecifiedMatching +Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome oboInOwl:hasDbXref UMLS:C5679624 semapv:UnspecifiedMatching +Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref MESH:C536416 semapv:UnspecifiedMatching +Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref OMIM:606353 semapv:UnspecifiedMatching +Orphanet:247604 Juvenile primary lateral sclerosis oboInOwl:hasDbXref UMLS:C1853396 semapv:UnspecifiedMatching +Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref MESH:C567107 semapv:UnspecifiedMatching +Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching +Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref UMLS:C2673477 semapv:UnspecifiedMatching +Orphanet:247623 Perinatal lethal hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref UMLS:C5679616 semapv:UnspecifiedMatching +Orphanet:247638 Prenatal benign hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref MESH:C562646 semapv:UnspecifiedMatching +Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching +Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref UMLS:C0268412 semapv:UnspecifiedMatching +Orphanet:247651 Infantile hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref MESH:C562440 semapv:UnspecifiedMatching +Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref OMIM:241510 semapv:UnspecifiedMatching +Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref UMLS:C0220743 semapv:UnspecifiedMatching +Orphanet:247667 Childhood-onset hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref MESH:C562647 semapv:UnspecifiedMatching +Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching +Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref UMLS:C0268413 semapv:UnspecifiedMatching +Orphanet:247676 Adult hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref MESH:C564146 semapv:UnspecifiedMatching +Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching +Orphanet:247685 Odontohypophosphatasia oboInOwl:hasDbXref UMLS:C1840322 semapv:UnspecifiedMatching +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref MESH:C566007 semapv:UnspecifiedMatching +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref OMIM:192315 semapv:UnspecifiedMatching +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref UMLS:C1860518 semapv:UnspecifiedMatching +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations oboInOwl:hasDbXref icd11:9B78.0 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref MESH:D018813 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref MedDRA:10073148 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref UMLS:C0025268 semapv:UnspecifiedMatching +Orphanet:247698 Multiple endocrine neoplasia type 2A oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref MedDRA:10050183 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref OMIM:155350 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref OMIM:248000 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref UMLS:C2720434 semapv:UnspecifiedMatching +Orphanet:2477 Megalencephaly oboInOwl:hasDbXref icd11:LA05.1 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MESH:D018814 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MedDRA:10056420 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS:C0025269 semapv:UnspecifiedMatching +Orphanet:247709 Multiple endocrine neoplasia type 2B oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref ICD10:G72.4 semapv:UnspecifiedMatching +Orphanet:247718 Inflammatory myopathy with abundant macrophages oboInOwl:hasDbXref UMLS:C4707791 semapv:UnspecifiedMatching +Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref UMLS:C4755301 semapv:UnspecifiedMatching +Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching +Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref MESH:D062689 semapv:UnspecifiedMatching +Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref UMLS:C1260965 semapv:UnspecifiedMatching +Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref icd11:2E80.1 semapv:UnspecifiedMatching +Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref MESH:C567186 semapv:UnspecifiedMatching +Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref MedDRA:10088125 semapv:UnspecifiedMatching +Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref OMIM:158330 semapv:UnspecifiedMatching +Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS:C2675014 semapv:UnspecifiedMatching +Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching +Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref UMLS:C5566555 semapv:UnspecifiedMatching +Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 oboInOwl:hasDbXref icd11:LB44.Y semapv:UnspecifiedMatching +Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref OMIM:615517 semapv:UnspecifiedMatching +Orphanet:247790 FTH1-related iron overload oboInOwl:hasDbXref UMLS:C1851316 semapv:UnspecifiedMatching +Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref OMIM:612018 semapv:UnspecifiedMatching +Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome oboInOwl:hasDbXref UMLS:C4302529 semapv:UnspecifiedMatching +Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref MESH:C563924 semapv:UnspecifiedMatching +Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:604004 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:613925 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS:C1858854 semapv:UnspecifiedMatching +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching +Orphanet:247806 APC-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C5679615 semapv:UnspecifiedMatching +Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasDbXref UMLS:C5679614 semapv:UnspecifiedMatching +Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613573 semapv:UnspecifiedMatching +Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C3150807 semapv:UnspecifiedMatching +Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613576 semapv:UnspecifiedMatching +Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C3150809 semapv:UnspecifiedMatching +Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref OMIM:613587 semapv:UnspecifiedMatching +Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref UMLS:C3150833 semapv:UnspecifiedMatching +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref MESH:C567090 semapv:UnspecifiedMatching +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref OMIM:611762 semapv:UnspecifiedMatching +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome oboInOwl:hasDbXref UMLS:C2673198 semapv:UnspecifiedMatching +Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536143 semapv:UnspecifiedMatching +Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref OMIM:249310 semapv:UnspecifiedMatching +Orphanet:2479 Megalocornea-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796086 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053360 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:618535 semapv:UnspecifiedMatching +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0406702 semapv:UnspecifiedMatching +Orphanet:248095 Primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010004 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.4 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.4 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.7 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref ICD10:D22.7 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref MESH:C537387 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref OMIM:249400 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref UMLS:C0544862 semapv:UnspecifiedMatching +Orphanet:2481 Neurocutaneous melanocytosis oboInOwl:hasDbXref icd11:2F20.20 semapv:UnspecifiedMatching +Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching +Orphanet:248111 Juvenile Huntington disease oboInOwl:hasDbXref UMLS:C0751208 semapv:UnspecifiedMatching +Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching +Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref MESH:C537238 semapv:UnspecifiedMatching +Orphanet:2482 Melhem-Fahl syndrome oboInOwl:hasDbXref UMLS:C2931453 semapv:UnspecifiedMatching +Orphanet:248293 Rare deficiency anemia oboInOwl:hasDbXref UMLS:C5680694 semapv:UnspecifiedMatching +Orphanet:248296 Constitutional deficiency anemia oboInOwl:hasDbXref UMLS:C5680695 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref ICD10:G51.2 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MESH:D008556 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MedDRA:10027166 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref OMIM:155900 semapv:UnspecifiedMatching +Orphanet:2483 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref UMLS:C0025235 semapv:UnspecifiedMatching +Orphanet:248302 Rare acquired deficiency anemia oboInOwl:hasDbXref UMLS:C5680693 semapv:UnspecifiedMatching +Orphanet:248308 Rare hemorrhagic disorder oboInOwl:hasDbXref UMLS:C5679621 semapv:UnspecifiedMatching +Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect oboInOwl:hasDbXref UMLS:C5679620 semapv:UnspecifiedMatching +Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly oboInOwl:hasDbXref UMLS:C5679619 semapv:UnspecifiedMatching +Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref OMIM:617443 semapv:UnspecifiedMatching +Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref UMLS:C5679623 semapv:UnspecifiedMatching +Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref icd11:3B62.3 semapv:UnspecifiedMatching +Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly oboInOwl:hasDbXref UMLS:C5679622 semapv:UnspecifiedMatching +Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect oboInOwl:hasDbXref UMLS:C5680692 semapv:UnspecifiedMatching +Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect oboInOwl:hasDbXref UMLS:C5680691 semapv:UnspecifiedMatching +Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect oboInOwl:hasDbXref UMLS:C5680688 semapv:UnspecifiedMatching +Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly oboInOwl:hasDbXref UMLS:C5680687 semapv:UnspecifiedMatching +Orphanet:2484 Melnick-Needles syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2484 Melnick-Needles syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2484 Melnick-Needles syndrome oboInOwl:hasDbXref MedDRA:10060908 semapv:UnspecifiedMatching +Orphanet:2484 Melnick-Needles syndrome oboInOwl:hasDbXref OMIM:309350 semapv:UnspecifiedMatching +Orphanet:2484 Melnick-Needles syndrome oboInOwl:hasDbXref UMLS:C0025237 semapv:UnspecifiedMatching +Orphanet:2484 Melnick-Needles syndrome oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching +Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly oboInOwl:hasDbXref UMLS:C5680686 semapv:UnspecifiedMatching +Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly oboInOwl:hasDbXref UMLS:C5680685 semapv:UnspecifiedMatching +Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching +Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref UMLS:C5680690 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref MESH:D008557 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref MedDRA:10050284 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref UMLS:C0025239 semapv:UnspecifiedMatching +Orphanet:2485 Melorheostosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref MESH:C535640 semapv:UnspecifiedMatching +Orphanet:2487 Lower limb malformation-hypospadias syndrome oboInOwl:hasDbXref UMLS:C2930962 semapv:UnspecifiedMatching +Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref OMIM:274205 semapv:UnspecifiedMatching +Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome oboInOwl:hasDbXref UMLS:C4274838 semapv:UnspecifiedMatching +Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching +Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MESH:D005357 semapv:UnspecifiedMatching +Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref MedDRA:10016664 semapv:UnspecifiedMatching +Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref UMLS:C0259779 semapv:UnspecifiedMatching +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref OMIM:146160 semapv:UnspecifiedMatching +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C5680722 semapv:UnspecifiedMatching +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref MESH:C565436 semapv:UnspecifiedMatching +Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref OMIM:246570 semapv:UnspecifiedMatching +Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref UMLS:C1855499 semapv:UnspecifiedMatching +Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching +Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching +Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref OMIM:137280 semapv:UnspecifiedMatching +Orphanet:2494 Ménétrier disease oboInOwl:hasDbXref UMLS:C0017155 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref MedDRA:10027191 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref OMIM:606190 semapv:UnspecifiedMatching +Orphanet:2495 Meningioma oboInOwl:hasDbXref UMLS:C0025286 semapv:UnspecifiedMatching +Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref MESH:C537348 semapv:UnspecifiedMatching +Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref OMIM:600383 semapv:UnspecifiedMatching +Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref UMLS:C1838162 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref OMIM:191440 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref UMLS:C5574958 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref MESH:C564100 semapv:UnspecifiedMatching +Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching +Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref UMLS:C1839728 semapv:UnspecifiedMatching +Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref MESH:C562938 semapv:UnspecifiedMatching +Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref OMIM:156250 semapv:UnspecifiedMatching +Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref UMLS:C0410530 semapv:UnspecifiedMatching +Orphanet:2499 Metachondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536833 semapv:UnspecifiedMatching +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231670 semapv:UnspecifiedMatching +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268595 semapv:UnspecifiedMatching +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:250 Frontonasal dysplasia oboInOwl:hasDbXref MESH:C538065 semapv:UnspecifiedMatching +Orphanet:250 Frontonasal dysplasia oboInOwl:hasDbXref UMLS:C1876203 semapv:UnspecifiedMatching +Orphanet:2500 Acrogeria oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:2500 Acrogeria oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching +Orphanet:2500 Acrogeria oboInOwl:hasDbXref MESH:C538187 semapv:UnspecifiedMatching +Orphanet:2500 Acrogeria oboInOwl:hasDbXref OMIM:201200 semapv:UnspecifiedMatching +Orphanet:2500 Acrogeria oboInOwl:hasDbXref UMLS:C0238590 semapv:UnspecifiedMatching +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref MESH:C537353 semapv:UnspecifiedMatching +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref OMIM:250400 semapv:UnspecifiedMatching +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type oboInOwl:hasDbXref UMLS:C0432225 semapv:UnspecifiedMatching +Orphanet:250165 Genetic polycythemia oboInOwl:hasDbXref UMLS:C5680689 semapv:UnspecifiedMatching +Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref OMIM:250420 semapv:UnspecifiedMatching +Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome oboInOwl:hasDbXref UMLS:C4518775 semapv:UnspecifiedMatching +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref UMLS:C5680723 semapv:UnspecifiedMatching +Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref MESH:C537575 semapv:UnspecifiedMatching +Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:156610 semapv:UnspecifiedMatching +Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIM:616734 semapv:UnspecifiedMatching +Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref UMLS:C0473586 semapv:UnspecifiedMatching +Orphanet:2506 Michels syndrome oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching +Orphanet:2506 Michels syndrome oboInOwl:hasDbXref UMLS:C0796059 semapv:UnspecifiedMatching +Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref MESH:C563110 semapv:UnspecifiedMatching +Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300004 semapv:UnspecifiedMatching +Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref UMLS:C0796124 semapv:UnspecifiedMatching +Orphanet:250805 Serpinopathy oboInOwl:hasDbXref UMLS:C5680704 semapv:UnspecifiedMatching +Orphanet:250808 Serpinopathy with toxic serpin polymerization oboInOwl:hasDbXref UMLS:C5680703 semapv:UnspecifiedMatching +Orphanet:250811 Serpinopathy with loss of serpin function oboInOwl:hasDbXref UMLS:C5680705 semapv:UnspecifiedMatching +Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:250831 Logopenic progressive aphasia oboInOwl:hasDbXref UMLS:C4274665 semapv:UnspecifiedMatching +Orphanet:250908 Rare neoplastic disease oboInOwl:hasDbXref UMLS:C5679627 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref ICD10:Q13.1 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617141 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617142 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref UMLS:C5680707 semapv:UnspecifiedMatching +Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref UMLS:C4273829 semapv:UnspecifiedMatching +Orphanet:250972 Polymicrogyria with optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:250972 Polymicrogyria with optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:250972 Polymicrogyria with optic nerve hypoplasia oboInOwl:hasDbXref MESH:C567715 semapv:UnspecifiedMatching +Orphanet:250972 Polymicrogyria with optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C2750798 semapv:UnspecifiedMatching +Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref MESH:C563876 semapv:UnspecifiedMatching +Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref OMIM:608688 semapv:UnspecifiedMatching +Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref UMLS:C1837530 semapv:UnspecifiedMatching +Orphanet:250977 AICA-ribosiduria oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:614134 semapv:UnspecifiedMatching +Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:614284 semapv:UnspecifiedMatching +Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref OMIM:620022 semapv:UnspecifiedMatching +Orphanet:250984 Autosomal recessive Stickler syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref MESH:C567291 semapv:UnspecifiedMatching +Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:612474 semapv:UnspecifiedMatching +Orphanet:250989 1q21.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2675897 semapv:UnspecifiedMatching +Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref OMIM:612475 semapv:UnspecifiedMatching +Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref UMLS:C4749853 semapv:UnspecifiedMatching +Orphanet:250994 1q21.1 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.00 semapv:UnspecifiedMatching +Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref OMIM:612530 semapv:UnspecifiedMatching +Orphanet:250999 1q41q42 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4274528 semapv:UnspecifiedMatching +Orphanet:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10028197 semapv:UnspecifiedMatching +Orphanet:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C0026760 semapv:UnspecifiedMatching +Orphanet:251 Multiple epiphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:600118 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:614222 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:614225 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref OMIM:615663 semapv:UnspecifiedMatching +Orphanet:2510 Micro syndrome oboInOwl:hasDbXref UMLS:C5442005 semapv:UnspecifiedMatching +Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref UMLS:C4707800 semapv:UnspecifiedMatching +Orphanet:251004 Paternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:251009 Maternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:251009 Maternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:251009 Maternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref UMLS:C4749302 semapv:UnspecifiedMatching +Orphanet:251009 Maternal uniparental disomy of chromosome 1 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251014 2q31.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4274647 semapv:UnspecifiedMatching +Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching +Orphanet:251019 2q32q33 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304531 semapv:UnspecifiedMatching +Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching +Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref MESH:C567626 semapv:UnspecifiedMatching +Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref OMIM:611936 semapv:UnspecifiedMatching +Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref UMLS:C2749873 semapv:UnspecifiedMatching +Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref UMLS:C4707450 semapv:UnspecifiedMatching +Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304528 semapv:UnspecifiedMatching +Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.61 semapv:UnspecifiedMatching +Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref OMIM:612863 semapv:UnspecifiedMatching +Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304527 semapv:UnspecifiedMatching +Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.60 semapv:UnspecifiedMatching +Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750783 semapv:UnspecifiedMatching +Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching +Orphanet:251066 8p11.2 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251066 8p11.2 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251066 8p11.2 deletion syndrome oboInOwl:hasDbXref UMLS:C4304505 semapv:UnspecifiedMatching +Orphanet:251066 8p11.2 deletion syndrome oboInOwl:hasDbXref icd11:LD44.81 semapv:UnspecifiedMatching +Orphanet:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref MESH:C537827 semapv:UnspecifiedMatching +Orphanet:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931638 semapv:UnspecifiedMatching +Orphanet:251071 8p23.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.81 semapv:UnspecifiedMatching +Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:251076 8p23.1 duplication syndrome oboInOwl:hasDbXref UMLS:C4707330 semapv:UnspecifiedMatching +Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref OMIM:268850 semapv:UnspecifiedMatching +Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome oboInOwl:hasDbXref UMLS:C4518461 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref MESH:C579935 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:251200 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:603802 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:604317 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:604321 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:604804 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:608393 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:608716 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:612703 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:614673 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:614852 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616051 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616080 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616402 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616486 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:616681 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617090 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617800 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617914 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617983 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617984 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:617985 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:618179 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:618351 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:619453 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref OMIM:620183 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref UMLS:C3711387 semapv:UnspecifiedMatching +Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref icd11:LA05.0 semapv:UnspecifiedMatching +Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref MESH:C580095 semapv:UnspecifiedMatching +Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching +Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref UMLS:C3665488 semapv:UnspecifiedMatching +Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching +Orphanet:251274 Familial hyperaldosteronism type III oboInOwl:hasDbXref UMLS:C3838758 semapv:UnspecifiedMatching +Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref OMIM:611040 semapv:UnspecifiedMatching +Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome oboInOwl:hasDbXref UMLS:C4755272 semapv:UnspecifiedMatching +Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref MESH:C566993 semapv:UnspecifiedMatching +Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref OMIM:108600 semapv:UnspecifiedMatching +Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref UMLS:C1970107 semapv:UnspecifiedMatching +Orphanet:251282 Autosomal dominant spastic ataxia type 1 oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref OMIM:153870 semapv:UnspecifiedMatching +Orphanet:251287 Benign concentric annular macular dystrophy oboInOwl:hasDbXref UMLS:C4304667 semapv:UnspecifiedMatching +Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref MESH:C566825 semapv:UnspecifiedMatching +Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref OMIM:168550 semapv:UnspecifiedMatching +Orphanet:251290 Parietal foramina with clavicular hypoplasia oboInOwl:hasDbXref UMLS:C1868597 semapv:UnspecifiedMatching +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref MESH:C566801 semapv:UnspecifiedMatching +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref OMIM:172870 semapv:UnspecifiedMatching +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref UMLS:C1868310 semapv:UnspecifiedMatching +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy oboInOwl:hasDbXref icd11:9B7Y semapv:UnspecifiedMatching +Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref MESH:C537322 semapv:UnspecifiedMatching +Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref OMIM:203340 semapv:UnspecifiedMatching +Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome oboInOwl:hasDbXref UMLS:C1859910 semapv:UnspecifiedMatching +Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching +Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching +Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref UMLS:C4750785 semapv:UnspecifiedMatching +Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis oboInOwl:hasDbXref icd11:EB7Y semapv:UnspecifiedMatching +Orphanet:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref ICD10:I09.2 semapv:UnspecifiedMatching +Orphanet:251307 Idiopathic recurrent pericarditis oboInOwl:hasDbXref UMLS:C4707790 semapv:UnspecifiedMatching +Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching +Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching +Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref UMLS:C1858556 semapv:UnspecifiedMatching +Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching +Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref UMLS:C5680713 semapv:UnspecifiedMatching +Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching +Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching +Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref UMLS:C5680712 semapv:UnspecifiedMatching +Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref ICD10:R65.2 semapv:UnspecifiedMatching +Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome oboInOwl:hasDbXref UMLS:C5679630 semapv:UnspecifiedMatching +Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref MESH:C565779 semapv:UnspecifiedMatching +Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref OMIM:604391 semapv:UnspecifiedMatching +Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref UMLS:C1858391 semapv:UnspecifiedMatching +Orphanet:251347 Ataxia-telangiectasia-like disorder oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching +Orphanet:251355 Sickle cell disease associated with another hemoglobin anomaly oboInOwl:hasDbXref UMLS:C5679629 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref MedDRA:10040655 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref UMLS:C5679628 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref icd11:3A51.3 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref icd11:3A51.4 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref MESH:D006450 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref MedDRA:10057072 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref UMLS:C0019034 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref icd11:3A51.3 semapv:UnspecifiedMatching +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref icd11:3A51.4 semapv:UnspecifiedMatching +Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref MedDRA:10056724 semapv:UnspecifiedMatching +Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref UMLS:C0272084 semapv:UnspecifiedMatching +Orphanet:251370 Sickle cell-hemoglobin D disease syndrome oboInOwl:hasDbXref icd11:3A51.3 semapv:UnspecifiedMatching +Orphanet:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref UMLS:C1112747 semapv:UnspecifiedMatching +Orphanet:251375 Sickle cell-hemoglobin E disease syndrome oboInOwl:hasDbXref icd11:3A51.3 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:142335 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:142470 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:305435 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref OMIM:613566 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref UMLS:C5190890 semapv:UnspecifiedMatching +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome oboInOwl:hasDbXref icd11:3A51.3 semapv:UnspecifiedMatching +Orphanet:251383 CK syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:251383 CK syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:251383 CK syndrome oboInOwl:hasDbXref OMIM:300831 semapv:UnspecifiedMatching +Orphanet:251383 CK syndrome oboInOwl:hasDbXref UMLS:C3151781 semapv:UnspecifiedMatching +Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching +Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0474889 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:156580 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:616311 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:617520 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:619179 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref OMIM:619180 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref UMLS:C4755316 semapv:UnspecifiedMatching +Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref icd11:LA05.0 semapv:UnspecifiedMatching +Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref MESH:C536711 semapv:UnspecifiedMatching +Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:251220 semapv:UnspecifiedMatching +Orphanet:2515 Microcephaly-cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C1855080 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:300018 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:615542 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:616067 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching +Orphanet:251510 46,XY partial gonadal dysgenesis oboInOwl:hasDbXref UMLS:C4510744 semapv:UnspecifiedMatching +Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref MESH:C566069 semapv:UnspecifiedMatching +Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref OMIM:187370 semapv:UnspecifiedMatching +Orphanet:251515 Distal arthrogryposis type 10 oboInOwl:hasDbXref UMLS:C1861238 semapv:UnspecifiedMatching +Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref MESH:C565988 semapv:UnspecifiedMatching +Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref OMIM:194470 semapv:UnspecifiedMatching +Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref UMLS:C1860229 semapv:UnspecifiedMatching +Orphanet:251529 Toxic or drug-related embryofetopathy oboInOwl:hasDbXref UMLS:C5680710 semapv:UnspecifiedMatching +Orphanet:251529 Toxic or drug-related embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0 semapv:UnspecifiedMatching +Orphanet:251535 Maternal disease-related embryofetopathy oboInOwl:hasDbXref UMLS:C5680708 semapv:UnspecifiedMatching +Orphanet:251558 Rare tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680709 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref MESH:D018316 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref MedDRA:10018340 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref UMLS:C0206726 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref icd11:2A00.00 semapv:UnspecifiedMatching +Orphanet:251576 Gliosarcoma oboInOwl:hasDbXref icd11:XH9RC8 semapv:UnspecifiedMatching +Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref UMLS:C0334588 semapv:UnspecifiedMatching +Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref icd11:2A00.00 semapv:UnspecifiedMatching +Orphanet:251579 Giant cell glioblastoma oboInOwl:hasDbXref icd11:XH8UC5 semapv:UnspecifiedMatching +Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref ICD10:C71.0 semapv:UnspecifiedMatching +Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref ICD10:C71.0 semapv:UnspecifiedMatching +Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref MedDRA:10066254 semapv:UnspecifiedMatching +Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref UMLS:C0334576 semapv:UnspecifiedMatching +Orphanet:251582 Gliomatosis cerebri oboInOwl:hasDbXref icd11:XH6ZH4 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref MedDRA:10002224 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref UMLS:C0334579 semapv:UnspecifiedMatching +Orphanet:251589 Anaplastic astrocytoma oboInOwl:hasDbXref icd11:XH96C7 semapv:UnspecifiedMatching +Orphanet:251592 Low-grade astrocytoma oboInOwl:hasDbXref MedDRA:10065869 semapv:UnspecifiedMatching +Orphanet:251592 Low-grade astrocytoma oboInOwl:hasDbXref UMLS:C1314694 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref UMLS:C0280785 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH2HK4 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH6UY7 semapv:UnspecifiedMatching +Orphanet:251595 Diffuse astrocytoma oboInOwl:hasDbXref icd11:XH8W32 semapv:UnspecifiedMatching +Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref UMLS:C0334580 semapv:UnspecifiedMatching +Orphanet:251598 Protoplasmic astrocytoma oboInOwl:hasDbXref icd11:XH6UV4 semapv:UnspecifiedMatching +Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref MESH:C536205 semapv:UnspecifiedMatching +Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref OMIM:601355 semapv:UnspecifiedMatching +Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome oboInOwl:hasDbXref UMLS:C2931129 semapv:UnspecifiedMatching +Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref MedDRA:10065889 semapv:UnspecifiedMatching +Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref UMLS:C0334582 semapv:UnspecifiedMatching +Orphanet:251601 Fibrillary astrocytoma oboInOwl:hasDbXref icd11:XH6C35 semapv:UnspecifiedMatching +Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334581 semapv:UnspecifiedMatching +Orphanet:251604 Gemistocytic astrocytoma oboInOwl:hasDbXref icd11:XH5Y81 semapv:UnspecifiedMatching +Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS:C0334586 semapv:UnspecifiedMatching +Orphanet:251607 Pleomorphic xanthoastrocytoma oboInOwl:hasDbXref icd11:XH99U2 semapv:UnspecifiedMatching +Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref UMLS:C0334583 semapv:UnspecifiedMatching +Orphanet:251612 Pilocytic astrocytoma oboInOwl:hasDbXref icd11:XH12D2 semapv:UnspecifiedMatching +Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref UMLS:C1519086 semapv:UnspecifiedMatching +Orphanet:251615 Pilomyxoid astrocytoma oboInOwl:hasDbXref icd11:XH29Q5 semapv:UnspecifiedMatching +Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS:C0205768 semapv:UnspecifiedMatching +Orphanet:251618 Subependymal giant cell astrocytoma oboInOwl:hasDbXref icd11:XH1L48 semapv:UnspecifiedMatching +Orphanet:251623 Pituicytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251623 Pituicytoma oboInOwl:hasDbXref UMLS:C2986550 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MedDRA:10030286 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching +Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref UMLS:C0028945 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref MedDRA:10026659 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref UMLS:C0334590 semapv:UnspecifiedMatching +Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref icd11:XH8844 semapv:UnspecifiedMatching +Orphanet:251636 Ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251636 Ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching +Orphanet:251636 Ependymoma oboInOwl:hasDbXref MedDRA:10014967 semapv:UnspecifiedMatching +Orphanet:251636 Ependymoma oboInOwl:hasDbXref UMLS:C0014474 semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref MESH:D018315 semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref UMLS:C0206725 semapv:UnspecifiedMatching +Orphanet:251639 Subependymoma oboInOwl:hasDbXref icd11:XH8FZ9 semapv:UnspecifiedMatching +Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref ICD10:D43.2 semapv:UnspecifiedMatching +Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref UMLS:C0205769 semapv:UnspecifiedMatching +Orphanet:251643 Myxopapillary ependymoma oboInOwl:hasDbXref icd11:XH15U1 semapv:UnspecifiedMatching +Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref MedDRA:10014968 semapv:UnspecifiedMatching +Orphanet:251646 Anaplastic ependymoma oboInOwl:hasDbXref UMLS:C0280788 semapv:UnspecifiedMatching +Orphanet:251651 Oligoastrocytic tumor oboInOwl:hasDbXref UMLS:C0280793 semapv:UnspecifiedMatching +Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref MedDRA:10027744 semapv:UnspecifiedMatching +Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref UMLS:C0547065 semapv:UnspecifiedMatching +Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref UMLS:C0431108 semapv:UnspecifiedMatching +Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin oboInOwl:hasDbXref UMLS:C5680698 semapv:UnspecifiedMatching +Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref MedDRA:10073129 semapv:UnspecifiedMatching +Orphanet:251671 Angiocentric glioma oboInOwl:hasDbXref UMLS:C2363903 semapv:UnspecifiedMatching +Orphanet:251674 Chordoid glioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251679 Astroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251679 Astroblastoma oboInOwl:hasDbXref MedDRA:10079366 semapv:UnspecifiedMatching +Orphanet:251679 Astroblastoma oboInOwl:hasDbXref UMLS:C0334587 semapv:UnspecifiedMatching +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:251270 semapv:UnspecifiedMatching +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref OMIM:616335 semapv:UnspecifiedMatching +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4749272 semapv:UnspecifiedMatching +Orphanet:251852 Embryonal tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680699 semapv:UnspecifiedMatching +Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching +Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching +Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref UMLS:C1334970 semapv:UnspecifiedMatching +Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching +Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref icd11:XH6JN6 semapv:UnspecifiedMatching +Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching +Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS:C0751291 semapv:UnspecifiedMatching +Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching +Orphanet:251863 Desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref icd11:XH7PN5 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref UMLS:C1707400 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching +Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:XH3EX1 semapv:UnspecifiedMatching +Orphanet:251870 Central nervous system embryonal tumor oboInOwl:hasDbXref MedDRA:10057846 semapv:UnspecifiedMatching +Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MESH:D018305 semapv:UnspecifiedMatching +Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MedDRA:10017708 semapv:UnspecifiedMatching +Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C0206718 semapv:UnspecifiedMatching +Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching +Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref MedDRA:10014966 semapv:UnspecifiedMatching +Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref UMLS:C0700367 semapv:UnspecifiedMatching +Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching +Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref UMLS:C5231013 semapv:UnspecifiedMatching +Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching +Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref MESH:D016545 semapv:UnspecifiedMatching +Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref UMLS:C0085138 semapv:UnspecifiedMatching +Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref ICD10:C71.7 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref MESH:C562943 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref MedDRA:10067478 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref UMLS:C0431109 semapv:UnspecifiedMatching +Orphanet:251899 Choroid plexus carcinoma oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching +Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref MESH:C537544 semapv:UnspecifiedMatching +Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome oboInOwl:hasDbXref UMLS:C4509817 semapv:UnspecifiedMatching +Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching +Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C1266176 semapv:UnspecifiedMatching +Orphanet:251902 Atypical papilloma of choroid plexus oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching +Orphanet:251905 Pineal tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680702 semapv:UnspecifiedMatching +Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref ICD10:C75.3 semapv:UnspecifiedMatching +Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref MedDRA:10050487 semapv:UnspecifiedMatching +Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref UMLS:C0205898 semapv:UnspecifiedMatching +Orphanet:251909 Pineoblastoma oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251912 Pineocytoma oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching +Orphanet:251912 Pineocytoma oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching +Orphanet:251912 Pineocytoma oboInOwl:hasDbXref MedDRA:10035059 semapv:UnspecifiedMatching +Orphanet:251912 Pineocytoma oboInOwl:hasDbXref UMLS:C0917890 semapv:UnspecifiedMatching +Orphanet:251912 Pineocytoma oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching +Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching +Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref UMLS:C2985219 semapv:UnspecifiedMatching +Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching +Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching +Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref UMLS:C1367859 semapv:UnspecifiedMatching +Orphanet:251924 Neuronal tumor oboInOwl:hasDbXref UMLS:C5680700 semapv:UnspecifiedMatching +Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref UMLS:C2985175 semapv:UnspecifiedMatching +Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching +Orphanet:251931 Cerebellar liponeurocytoma oboInOwl:hasDbXref UMLS:C1370507 semapv:UnspecifiedMatching +Orphanet:251934 Mixed neuronal-glial tumor oboInOwl:hasDbXref UMLS:C5680701 semapv:UnspecifiedMatching +Orphanet:251934 Mixed neuronal-glial tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref UMLS:C5190517 semapv:UnspecifiedMatching +Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref UMLS:C4757951 semapv:UnspecifiedMatching +Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref UMLS:C1266177 semapv:UnspecifiedMatching +Orphanet:251946 Dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref MESH:D018303 semapv:UnspecifiedMatching +Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref MedDRA:10017701 semapv:UnspecifiedMatching +Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref UMLS:C0206716 semapv:UnspecifiedMatching +Orphanet:251949 Ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching +Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref UMLS:C0431112 semapv:UnspecifiedMatching +Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251957 Anaplastic ganglioglioma oboInOwl:hasDbXref icd11:XH2GG3 semapv:UnspecifiedMatching +Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref UMLS:C2985174 semapv:UnspecifiedMatching +Orphanet:251962 Papillary glioneuronal tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref ICD10:D33.1 semapv:UnspecifiedMatching +Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref UMLS:C4331262 semapv:UnspecifiedMatching +Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251975 Rosette-forming glioneuronal tumor oboInOwl:hasDbXref icd11:XH2JU8 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref MESH:D005729 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref MedDRA:10017709 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref UMLS:C0017075 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref icd11:XH03L9 semapv:UnspecifiedMatching +Orphanet:251995 Primary germ cell tumor of central nervous system oboInOwl:hasDbXref UMLS:C5679625 semapv:UnspecifiedMatching +Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching +Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching +Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1332876 semapv:UnspecifiedMatching +Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref MESH:D008577 semapv:UnspecifiedMatching +Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref MedDRA:10061282 semapv:UnspecifiedMatching +Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref UMLS:C0025284 semapv:UnspecifiedMatching +Orphanet:252028 Primary melanocytic tumor of central nervous system oboInOwl:hasDbXref UMLS:C5679637 semapv:UnspecifiedMatching +Orphanet:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching +Orphanet:252031 Diffuse leptomeningeal melanocytosis oboInOwl:hasDbXref UMLS:C4749348 semapv:UnspecifiedMatching +Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching +Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching +Orphanet:252046 Meningeal melanocytoma oboInOwl:hasDbXref UMLS:C1266113 semapv:UnspecifiedMatching +Orphanet:252050 Primary melanoma of the central nervous system oboInOwl:hasDbXref ICD10:C70.9 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.4 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.4 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.7 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref ICD10:D33.7 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref MESH:D018325 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref MedDRA:10018813 semapv:UnspecifiedMatching +Orphanet:252054 Hemangioblastoma oboInOwl:hasDbXref UMLS:C0206734 semapv:UnspecifiedMatching +Orphanet:252057 Tumor of cranial and spinal nerves oboInOwl:hasDbXref UMLS:C5679636 semapv:UnspecifiedMatching +Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome oboInOwl:hasDbXref UMLS:C2930954 semapv:UnspecifiedMatching +Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching +Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching +Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref UMLS:C1266188 semapv:UnspecifiedMatching +Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref icd11:2C41 semapv:UnspecifiedMatching +Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MESH:D009442 semapv:UnspecifiedMatching +Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MedDRA:10029235 semapv:UnspecifiedMatching +Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref UMLS:C0027809 semapv:UnspecifiedMatching +Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref ICD10:D33.3 semapv:UnspecifiedMatching +Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref MESH:D009464 semapv:UnspecifiedMatching +Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching +Orphanet:252175 Vestibular schwannoma oboInOwl:hasDbXref UMLS:C0027859 semapv:UnspecifiedMatching +Orphanet:252183 Neurofibroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:252183 Neurofibroma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:252183 Neurofibroma oboInOwl:hasDbXref MESH:D009455 semapv:UnspecifiedMatching +Orphanet:252183 Neurofibroma oboInOwl:hasDbXref MedDRA:10029267 semapv:UnspecifiedMatching +Orphanet:252183 Neurofibroma oboInOwl:hasDbXref UMLS:C0027830 semapv:UnspecifiedMatching +Orphanet:252190 Inherited nervous system cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5680719 semapv:UnspecifiedMatching +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref MESH:C537325 semapv:UnspecifiedMatching +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref OMIM:251250 semapv:UnspecifiedMatching +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome oboInOwl:hasDbXref UMLS:C0796066 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:276300 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619096 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619097 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref OMIM:619101 semapv:UnspecifiedMatching +Orphanet:252202 Constitutional mismatch repair deficiency syndrome oboInOwl:hasDbXref UMLS:C4321324 semapv:UnspecifiedMatching +Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref ICD10:D43 semapv:UnspecifiedMatching +Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref MESH:C536149 semapv:UnspecifiedMatching +Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref OMIM:155755 semapv:UnspecifiedMatching +Orphanet:252206 Melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS:C1835042 semapv:UnspecifiedMatching +Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching +Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching +Orphanet:252212 Malignant triton tumor oboInOwl:hasDbXref UMLS:C0334616 semapv:UnspecifiedMatching +Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching +Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome oboInOwl:hasDbXref UMLS:C4749368 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref MESH:C548070 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:277470 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:612389 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:612390 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:613811 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref OMIM:617026 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref UMLS:C2932714 semapv:UnspecifiedMatching +Orphanet:2524 Pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref MESH:C537711 semapv:UnspecifiedMatching +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref OMIM:152950 semapv:UnspecifiedMatching +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref UMLS:C1835265 semapv:UnspecifiedMatching +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref MESH:C537536 semapv:UnspecifiedMatching +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type oboInOwl:hasDbXref UMLS:C2931524 semapv:UnspecifiedMatching +Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5679593 semapv:UnspecifiedMatching +Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537326 semapv:UnspecifiedMatching +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:156620 semapv:UnspecifiedMatching +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796062 semapv:UnspecifiedMatching +Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref MESH:C537552 semapv:UnspecifiedMatching +Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref OMIM:156700 semapv:UnspecifiedMatching +Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome oboInOwl:hasDbXref UMLS:C4274800 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref MESH:C537554 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref OMIM:156810 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref UMLS:C5680811 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:254 Spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C4759767 semapv:UnspecifiedMatching +Orphanet:254 Spondylometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:156850 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:251600 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:610093 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:611038 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:613094 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:613704 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref OMIM:615113 semapv:UnspecifiedMatching +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5679828 semapv:UnspecifiedMatching +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref OMIM:613641 semapv:UnspecifiedMatching +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref UMLS:C4750786 semapv:UnspecifiedMatching +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref OMIM:613672 semapv:UnspecifiedMatching +Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome oboInOwl:hasDbXref UMLS:C3150925 semapv:UnspecifiedMatching +Orphanet:254346 19p13.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254346 19p13.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254346 19p13.12 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304579 semapv:UnspecifiedMatching +Orphanet:254346 19p13.12 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.K1 semapv:UnspecifiedMatching +Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref OMIM:613729 semapv:UnspecifiedMatching +Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749584 semapv:UnspecifiedMatching +Orphanet:254351 Distal 7q11.23 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching +Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref OMIM:613723 semapv:UnspecifiedMatching +Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 oboInOwl:hasDbXref UMLS:C3150989 semapv:UnspecifiedMatching +Orphanet:254367 Rare lichen planus oboInOwl:hasDbXref UMLS:C5679638 semapv:UnspecifiedMatching +Orphanet:254370 Rare cutaneous lichen planus oboInOwl:hasDbXref UMLS:C5679641 semapv:UnspecifiedMatching +Orphanet:254373 Rare mucosal lichen planus oboInOwl:hasDbXref UMLS:C5679642 semapv:UnspecifiedMatching +Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref UMLS:C0023650 semapv:UnspecifiedMatching +Orphanet:254379 Linear lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching +Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref UMLS:C0406365 semapv:UnspecifiedMatching +Orphanet:254395 Actinic lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching +Orphanet:254411 Annular atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254411 Annular atrophic lichen planus oboInOwl:hasDbXref UMLS:C4304037 semapv:UnspecifiedMatching +Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref UMLS:C0406363 semapv:UnspecifiedMatching +Orphanet:254424 Annular lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching +Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref MedDRA:10056959 semapv:UnspecifiedMatching +Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref UMLS:C0023647 semapv:UnspecifiedMatching +Orphanet:254449 Atrophic lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching +Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref UMLS:C0406366 semapv:UnspecifiedMatching +Orphanet:254463 Lichen planus pigmentosus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching +Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref MedDRA:10087934 semapv:UnspecifiedMatching +Orphanet:254478 Lichen planus pemphigoides oboInOwl:hasDbXref UMLS:C0406369 semapv:UnspecifiedMatching +Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching +Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching +Orphanet:254492 Frontal fibrosing alopecia oboInOwl:hasDbXref UMLS:C4255374 semapv:UnspecifiedMatching +Orphanet:254504 Inhalational botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:254504 Inhalational botulism oboInOwl:hasDbXref UMLS:C1443900 semapv:UnspecifiedMatching +Orphanet:254509 Iatrogenic botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching +Orphanet:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254516 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching +Orphanet:254516 Temple syndrome oboInOwl:hasDbXref UMLS:C4015558 semapv:UnspecifiedMatching +Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching +Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref UMLS:C1842466 semapv:UnspecifiedMatching +Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching +Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref UMLS:C5679639 semapv:UnspecifiedMatching +Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref icd11:LD44.E semapv:UnspecifiedMatching +Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching +Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref UMLS:C5679640 semapv:UnspecifiedMatching +Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion oboInOwl:hasDbXref icd11:LD44.E semapv:UnspecifiedMatching +Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching +Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref UMLS:C5680721 semapv:UnspecifiedMatching +Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching +Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching +Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref UMLS:C5680720 semapv:UnspecifiedMatching +Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching +Orphanet:254685 Gestational trophoblastic disease oboInOwl:hasDbXref MESH:D031901 semapv:UnspecifiedMatching +Orphanet:254685 Gestational trophoblastic disease oboInOwl:hasDbXref UMLS:C2931618 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:618431 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref OMIM:618432 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref UMLS:C0678213 semapv:UnspecifiedMatching +Orphanet:254688 Complete hydatidiform mole oboInOwl:hasDbXref icd11:JA02.0 semapv:UnspecifiedMatching +Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching +Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref UMLS:C0334529 semapv:UnspecifiedMatching +Orphanet:254693 Partial hydatidiform mole oboInOwl:hasDbXref icd11:JA02.1 semapv:UnspecifiedMatching +Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching +Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS:C1266159 semapv:UnspecifiedMatching +Orphanet:254698 Epithelioid trophoblastic tumor oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching +Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref MESH:C536513 semapv:UnspecifiedMatching +Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref UMLS:C2931224 semapv:UnspecifiedMatching +Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref ICD10:R77.8 semapv:UnspecifiedMatching +Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref ICD10:R77.8 semapv:UnspecifiedMatching +Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref UMLS:C4707880 semapv:UnspecifiedMatching +Orphanet:254707 Faisalabad histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254712 Familial sinus histiocytosis with massive lymphadenopathy oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254749 Tricarboxylic acid cycle disorder oboInOwl:hasDbXref UMLS:C5679646 semapv:UnspecifiedMatching +Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies oboInOwl:hasDbXref UMLS:C5679644 semapv:UnspecifiedMatching +Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA oboInOwl:hasDbXref UMLS:C5679643 semapv:UnspecifiedMatching +Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA oboInOwl:hasDbXref UMLS:C5679645 semapv:UnspecifiedMatching +Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching +Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching +Orphanet:254807 Multiple mitochondrial DNA deletion syndrome oboInOwl:hasDbXref UMLS:C5679633 semapv:UnspecifiedMatching +Orphanet:254807 Multiple mitochondrial DNA deletion syndrome oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:254818 Ataxia neuropathy spectrum oboInOwl:hasDbXref MESH:C579922 semapv:UnspecifiedMatching +Orphanet:254818 Ataxia neuropathy spectrum oboInOwl:hasDbXref UMLS:C3683791 semapv:UnspecifiedMatching +Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism oboInOwl:hasDbXref UMLS:C5679634 semapv:UnspecifiedMatching +Orphanet:254827 Mitochondrial membrane transport disorder oboInOwl:hasDbXref UMLS:C5680718 semapv:UnspecifiedMatching +Orphanet:254827 Mitochondrial membrane transport disorder oboInOwl:hasDbXref icd11:5C53.3 semapv:UnspecifiedMatching +Orphanet:254830 Mitochondrial substrate carrier disorder oboInOwl:hasDbXref UMLS:C5680716 semapv:UnspecifiedMatching +Orphanet:254830 Mitochondrial substrate carrier disorder oboInOwl:hasDbXref icd11:5C53.30 semapv:UnspecifiedMatching +Orphanet:254834 Mitochondrial protein import disorder oboInOwl:hasDbXref UMLS:C5680717 semapv:UnspecifiedMatching +Orphanet:254834 Mitochondrial protein import disorder oboInOwl:hasDbXref icd11:5C53.31 semapv:UnspecifiedMatching +Orphanet:254837 Unspecified mitochondrial disorder oboInOwl:hasDbXref UMLS:C5680715 semapv:UnspecifiedMatching +Orphanet:254843 Exercise intolerance with lactic acidosis oboInOwl:hasDbXref UMLS:C5680714 semapv:UnspecifiedMatching +Orphanet:254846 Isolated oxidative phosphorylation complex disorder oboInOwl:hasDbXref UMLS:C5679632 semapv:UnspecifiedMatching +Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254851 Mitochondrial DNA-related dystonia oboInOwl:hasDbXref UMLS:C4274074 semapv:UnspecifiedMatching +Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:254854 Pure mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4517289 semapv:UnspecifiedMatching +Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref MESH:C564017 semapv:UnspecifiedMatching +Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref OMIM:551000 semapv:UnspecifiedMatching +Orphanet:254857 Lethal infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C1838876 semapv:UnspecifiedMatching +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:500009 semapv:UnspecifiedMatching +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C5191317 semapv:UnspecifiedMatching +Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form oboInOwl:hasDbXref MESH:C580039 semapv:UnspecifiedMatching +Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form oboInOwl:hasDbXref UMLS:C3711385 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref MESH:C563698 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:609560 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref OMIM:618972 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref UMLS:C3501891 semapv:UnspecifiedMatching +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref MESH:C564395 semapv:UnspecifiedMatching +Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching +Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref UMLS:C1843852 semapv:UnspecifiedMatching +Orphanet:254881 Spinocerebellar ataxia with epilepsy oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref MESH:C564926 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:258450 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:617069 semapv:UnspecifiedMatching +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850303 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:157640 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609283 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:609286 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:610131 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref OMIM:613077 semapv:UnspecifiedMatching +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C5231255 semapv:UnspecifiedMatching +Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref OMIM:614651 semapv:UnspecifiedMatching +Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome oboInOwl:hasDbXref UMLS:C4706538 semapv:UnspecifiedMatching +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref OMIM:141400 semapv:UnspecifiedMatching +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects oboInOwl:hasDbXref UMLS:C0220681 semapv:UnspecifiedMatching +Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching +Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref UMLS:C4274075 semapv:UnspecifiedMatching +Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref MESH:D030401 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:220110 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619046 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619048 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619051 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619052 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619053 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619054 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619055 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619058 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619059 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619060 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619061 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619062 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619063 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619064 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619355 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C0268237 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:604273 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:614053 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:615228 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:616045 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618120 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618683 semapv:UnspecifiedMatching +Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref UMLS:C4757950 semapv:UnspecifiedMatching +Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref MESH:C566468 semapv:UnspecifiedMatching +Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref OMIM:610498 semapv:UnspecifiedMatching +Orphanet:254920 Combined oxidative phosphorylation defect type 2 oboInOwl:hasDbXref UMLS:C1864843 semapv:UnspecifiedMatching +Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref MESH:C565690 semapv:UnspecifiedMatching +Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref OMIM:610678 semapv:UnspecifiedMatching +Orphanet:254925 Combined oxidative phosphorylation defect type 4 oboInOwl:hasDbXref UMLS:C1857682 semapv:UnspecifiedMatching +Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref OMIM:613559 semapv:UnspecifiedMatching +Orphanet:254930 Combined oxidative phosphorylation defect type 7 oboInOwl:hasDbXref UMLS:C3150801 semapv:UnspecifiedMatching +Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref MESH:C538007 semapv:UnspecifiedMatching +Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref MedDRA:10080034 semapv:UnspecifiedMatching +Orphanet:255 Dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C1851920 semapv:UnspecifiedMatching +Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:157151 semapv:UnspecifiedMatching +Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4510377 semapv:UnspecifiedMatching +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:616860 semapv:UnspecifiedMatching +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia oboInOwl:hasDbXref UMLS:C4304054 semapv:UnspecifiedMatching +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref MESH:C566729 semapv:UnspecifiedMatching +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency oboInOwl:hasDbXref UMLS:C3279841 semapv:UnspecifiedMatching +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref MESH:C565447 semapv:UnspecifiedMatching +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency oboInOwl:hasDbXref UMLS:C1855553 semapv:UnspecifiedMatching +Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref ICD10:B60.8 semapv:UnspecifiedMatching +Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref MESH:D016881 semapv:UnspecifiedMatching +Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref MedDRA:10053982 semapv:UnspecifiedMatching +Orphanet:2552 Microsporidiosis oboInOwl:hasDbXref UMLS:C0085407 semapv:UnspecifiedMatching +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref MESH:C536035 semapv:UnspecifiedMatching +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome oboInOwl:hasDbXref UMLS:C2931092 semapv:UnspecifiedMatching +Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref MESH:C538344 semapv:UnspecifiedMatching +Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref OMIM:256810 semapv:UnspecifiedMatching +Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref UMLS:C1850406 semapv:UnspecifiedMatching +Orphanet:255229 Navajo neurohepatopathy oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref UMLS:C2749861 semapv:UnspecifiedMatching +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:616277 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618222 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618224 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618225 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618226 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618229 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618230 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618233 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618235 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618239 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618240 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618241 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618243 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618244 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618248 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618249 semapv:UnspecifiedMatching +Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref UMLS:C5679635 semapv:UnspecifiedMatching +Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:607426 semapv:UnspecifiedMatching +Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:614652 semapv:UnspecifiedMatching +Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref UMLS:C5190833 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MESH:C538012 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MedDRA:10070612 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:224690 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613800 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613803 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613804 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:613805 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:616835 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref OMIM:617063 semapv:UnspecifiedMatching +Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref UMLS:C1868684 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref MESH:C537466 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:300887 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:300952 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref OMIM:309801 semapv:UnspecifiedMatching +Orphanet:2556 Microphthalmia with linear skin defects syndrome oboInOwl:hasDbXref UMLS:C0796070 semapv:UnspecifiedMatching +Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref MESH:C537444 semapv:UnspecifiedMatching +Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref OMIM:249600 semapv:UnspecifiedMatching +Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref UMLS:C0265249 semapv:UnspecifiedMatching +Orphanet:2557 Mietens syndrome oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:2558 Mikati-Najjar-Sahli syndrome oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:2558 Mikati-Najjar-Sahli syndrome oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:2558 Mikati-Najjar-Sahli syndrome oboInOwl:hasDbXref UMLS:C4518578 semapv:UnspecifiedMatching +Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM:128100 semapv:UnspecifiedMatching +Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref OMIM:602554 semapv:UnspecifiedMatching +Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref UMLS:C3888090 semapv:UnspecifiedMatching +Orphanet:256 Early-onset generalized limb-onset dystonia oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4510410 semapv:UnspecifiedMatching +Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref MESH:C538170 semapv:UnspecifiedMatching +Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref OMIM:200970 semapv:UnspecifiedMatching +Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome oboInOwl:hasDbXref UMLS:C1860167 semapv:UnspecifiedMatching +Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref MESH:C535812 semapv:UnspecifiedMatching +Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref OMIM:157980 semapv:UnspecifiedMatching +Orphanet:2563 MOMO syndrome oboInOwl:hasDbXref UMLS:C1834759 semapv:UnspecifiedMatching +Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref MESH:C566066 semapv:UnspecifiedMatching +Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref OMIM:187510 semapv:UnspecifiedMatching +Orphanet:2564 Tetramelic monodactyly oboInOwl:hasDbXref UMLS:C1861233 semapv:UnspecifiedMatching +Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref MESH:C535914 semapv:UnspecifiedMatching +Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref OMIM:301940 semapv:UnspecifiedMatching +Orphanet:2565 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS:C2931060 semapv:UnspecifiedMatching +Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref ICD10:B27.0 semapv:UnspecifiedMatching +Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref OMIM:226990 semapv:UnspecifiedMatching +Orphanet:2566 Chronic Epstein-Barr virus infection syndrome oboInOwl:hasDbXref UMLS:C4751209 semapv:UnspecifiedMatching +Orphanet:2569 Moore-Federman syndrome oboInOwl:hasDbXref OMIM:127200 semapv:UnspecifiedMatching +Orphanet:2569 Moore-Federman syndrome oboInOwl:hasDbXref UMLS:C0265349 semapv:UnspecifiedMatching +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref OMIM:226670 semapv:UnspecifiedMatching +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref UMLS:C2931072 semapv:UnspecifiedMatching +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref OMIM:306990 semapv:UnspecifiedMatching +Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome oboInOwl:hasDbXref UMLS:C4274798 semapv:UnspecifiedMatching +Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref MESH:C536743 semapv:UnspecifiedMatching +Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref OMIM:300076 semapv:UnspecifiedMatching +Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref UMLS:C1848144 semapv:UnspecifiedMatching +Orphanet:2571 X-linked immunoneurologic disorder oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref MESH:C536989 semapv:UnspecifiedMatching +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:271320 semapv:UnspecifiedMatching +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1849085 semapv:UnspecifiedMatching +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref MESH:D009072 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref MedDRA:10028047 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:252350 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:607151 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:608796 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref OMIM:614042 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref UMLS:C0026654 semapv:UnspecifiedMatching +Orphanet:2573 Moyamoya disease oboInOwl:hasDbXref icd11:8B22.B semapv:UnspecifiedMatching +Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref MESH:C537052 semapv:UnspecifiedMatching +Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref OMIM:203600 semapv:UnspecifiedMatching +Orphanet:2574 Moynahan syndrome oboInOwl:hasDbXref UMLS:C0265328 semapv:UnspecifiedMatching +Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching +Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching +Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C537039 semapv:UnspecifiedMatching +Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:219721 semapv:UnspecifiedMatching +Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C2931402 semapv:UnspecifiedMatching +Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref MESH:D050336 semapv:UnspecifiedMatching +Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref OMIM:253250 semapv:UnspecifiedMatching +Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref UMLS:C0524582 semapv:UnspecifiedMatching +Orphanet:2576 Mulibrey nanism oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching +Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 oboInOwl:hasDbXref UMLS:C4305568 semapv:UnspecifiedMatching +Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref MESH:C538193 semapv:UnspecifiedMatching +Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref OMIM:158500 semapv:UnspecifiedMatching +Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C2931765 semapv:UnspecifiedMatching +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref MESH:C537384 semapv:UnspecifiedMatching +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:607855 semapv:UnspecifiedMatching +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:618138 semapv:UnspecifiedMatching +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1263858 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MESH:D016603 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MedDRA:10014952 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref UMLS:C5680853 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.1 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.9 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.9 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref MESH:D008271 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref MedDRA:10028427 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref UMLS:C0024449 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref icd11:1C43 semapv:UnspecifiedMatching +Orphanet:2583 Mycetoma oboInOwl:hasDbXref icd11:1F29 semapv:UnspecifiedMatching +Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref OMIM:254400 semapv:UnspecifiedMatching +Orphanet:2584 Classic mycosis fungoides oboInOwl:hasDbXref UMLS:C4707404 semapv:UnspecifiedMatching +Orphanet:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref MESH:C563233 semapv:UnspecifiedMatching +Orphanet:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref OMIM:159550 semapv:UnspecifiedMatching +Orphanet:2585 Ataxia-pancytopenia syndrome oboInOwl:hasDbXref UMLS:C1327919 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref MESH:C562864 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref MedDRA:10074767 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref OMIM:254600 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref UMLS:C0398595 semapv:UnspecifiedMatching +Orphanet:2587 Myeloperoxidase deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:2588 Myhre syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2588 Myhre syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2588 Myhre syndrome oboInOwl:hasDbXref MESH:C537620 semapv:UnspecifiedMatching +Orphanet:2588 Myhre syndrome oboInOwl:hasDbXref OMIM:139210 semapv:UnspecifiedMatching +Orphanet:2588 Myhre syndrome oboInOwl:hasDbXref UMLS:C0796081 semapv:UnspecifiedMatching +Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:159800 semapv:UnspecifiedMatching +Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C4518566 semapv:UnspecifiedMatching +Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref MESH:C537563 semapv:UnspecifiedMatching +Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref OMIM:159950 semapv:UnspecifiedMatching +Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome oboInOwl:hasDbXref UMLS:C1834569 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref MESH:C562978 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:228550 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref OMIM:615293 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref UMLS:C0432284 semapv:UnspecifiedMatching +Orphanet:2591 Infantile myofibromatosis oboInOwl:hasDbXref icd11:2F7C semapv:UnspecifiedMatching +Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:160565 semapv:UnspecifiedMatching +Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref OMIM:615883 semapv:UnspecifiedMatching +Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref UMLS:C0410207 semapv:UnspecifiedMatching +Orphanet:2593 Tubular aggregate myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching +Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref OMIM:500002 semapv:UnspecifiedMatching +Orphanet:2596 Myopathy and diabetes mellitus oboInOwl:hasDbXref UMLS:C5191051 semapv:UnspecifiedMatching +Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref OMIM:132090 semapv:UnspecifiedMatching +Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref UMLS:C1851549 semapv:UnspecifiedMatching +Orphanet:25968 Benign occipital epilepsy oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref MESH:C537476 semapv:UnspecifiedMatching +Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref OMIM:251950 semapv:UnspecifiedMatching +Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome oboInOwl:hasDbXref UMLS:C4518539 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref MESH:C536101 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:500011 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:600462 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref OMIM:613561 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref UMLS:C1838103 semapv:UnspecifiedMatching +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia oboInOwl:hasDbXref icd11:3A72.0Y semapv:UnspecifiedMatching +Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref MESH:C564093 semapv:UnspecifiedMatching +Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref OMIM:310440 semapv:UnspecifiedMatching +Orphanet:25980 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref UMLS:C1839615 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref MESH:C537359 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref OMIM:614857 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref UMLS:C1848561 semapv:UnspecifiedMatching +Orphanet:26 Methylmalonic acidemia with homocystinuria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref OMIM:205950 semapv:UnspecifiedMatching +Orphanet:260305 Autosomal recessive sideroblastic anemia oboInOwl:hasDbXref UMLS:C4274077 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref ICD10:K56.0 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref ICD10:K56.0 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref MESH:C562574 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:155310 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref OMIM:619350 semapv:UnspecifiedMatching +Orphanet:2604 Familial visceral myopathy oboInOwl:hasDbXref UMLS:C0266833 semapv:UnspecifiedMatching +Orphanet:2608 N syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2608 N syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2608 N syndrome oboInOwl:hasDbXref MESH:C536108 semapv:UnspecifiedMatching +Orphanet:2608 N syndrome oboInOwl:hasDbXref OMIM:310465 semapv:UnspecifiedMatching +Orphanet:2608 N syndrome oboInOwl:hasDbXref UMLS:C2936859 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:301020 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:301021 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618222 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618224 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618225 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618226 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618229 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618230 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618232 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618233 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618234 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618236 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618237 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618238 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618240 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618241 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618242 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618245 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618246 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618250 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618251 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618253 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:618776 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619003 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619170 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:619272 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref OMIM:620135 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref UMLS:C1838979 semapv:UnspecifiedMatching +Orphanet:2609 Isolated complex I deficiency oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MedDRA:10081544 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612998 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching +Orphanet:261 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410189 semapv:UnspecifiedMatching +Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 semapv:UnspecifiedMatching +Orphanet:26106 Hereditary diffuse gastric cancer oboInOwl:hasDbXref UMLS:C4721859 semapv:UnspecifiedMatching +Orphanet:2611 Linear verrucous nevus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:2611 Linear verrucous nevus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:2611 Linear verrucous nevus syndrome oboInOwl:hasDbXref UMLS:C5679838 semapv:UnspecifiedMatching +Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261102 Distal 7q11.23 microduplication syndrome oboInOwl:hasDbXref UMLS:C4750782 semapv:UnspecifiedMatching +Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref MESH:C538024 semapv:UnspecifiedMatching +Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref OMIM:158170 semapv:UnspecifiedMatching +Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref UMLS:C0795830 semapv:UnspecifiedMatching +Orphanet:261112 Monosomy 9p oboInOwl:hasDbXref icd11:LD44.91 semapv:UnspecifiedMatching +Orphanet:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613457 semapv:UnspecifiedMatching +Orphanet:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304999 semapv:UnspecifiedMatching +Orphanet:261120 14q11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.E semapv:UnspecifiedMatching +Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion oboInOwl:hasDbXref icd11:LD44.E semapv:UnspecifiedMatching +Orphanet:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:615656 semapv:UnspecifiedMatching +Orphanet:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749854 semapv:UnspecifiedMatching +Orphanet:261183 15q11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.F semapv:UnspecifiedMatching +Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion oboInOwl:hasDbXref OMIM:616898 semapv:UnspecifiedMatching +Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion oboInOwl:hasDbXref UMLS:C4305230 semapv:UnspecifiedMatching +Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion oboInOwl:hasDbXref icd11:LD44.F semapv:UnspecifiedMatching +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:611913 semapv:UnspecifiedMatching +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4273657 semapv:UnspecifiedMatching +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref MESH:D054000 semapv:UnspecifiedMatching +Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref OMIM:163200 semapv:UnspecifiedMatching +Orphanet:2612 Linear nevus sebaceus syndrome oboInOwl:hasDbXref UMLS:C4552097 semapv:UnspecifiedMatching +Orphanet:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261204 16p11.2p12.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4518821 semapv:UnspecifiedMatching +Orphanet:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613604 semapv:UnspecifiedMatching +Orphanet:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304597 semapv:UnspecifiedMatching +Orphanet:261211 16p11.2p12.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613444 semapv:UnspecifiedMatching +Orphanet:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4518824 semapv:UnspecifiedMatching +Orphanet:261222 Distal 16p11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:261229 14q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261229 14q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261229 14q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4749855 semapv:UnspecifiedMatching +Orphanet:261229 14q11.2 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.D semapv:UnspecifiedMatching +Orphanet:261236 16p13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261236 16p13.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261236 16p13.11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304596 semapv:UnspecifiedMatching +Orphanet:261236 16p13.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261243 16p13.11 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304595 semapv:UnspecifiedMatching +Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304594 semapv:UnspecifiedMatching +Orphanet:261250 16q24.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.G0 semapv:UnspecifiedMatching +Orphanet:261257 Distal 17p13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261257 Distal 17p13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261257 Distal 17p13.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4707092 semapv:UnspecifiedMatching +Orphanet:261257 Distal 17p13.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.H1 semapv:UnspecifiedMatching +Orphanet:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref OMIM:614527 semapv:UnspecifiedMatching +Orphanet:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4518822 semapv:UnspecifiedMatching +Orphanet:261265 17q12 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching +Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref OMIM:614526 semapv:UnspecifiedMatching +Orphanet:261272 17q12 microduplication syndrome oboInOwl:hasDbXref UMLS:C3281137 semapv:UnspecifiedMatching +Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:613355 semapv:UnspecifiedMatching +Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304591 semapv:UnspecifiedMatching +Orphanet:261279 17q23.1q23.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching +Orphanet:261290 Trisomy 17p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:261290 Trisomy 17p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:261290 Trisomy 17p oboInOwl:hasDbXref MESH:C538048 semapv:UnspecifiedMatching +Orphanet:261290 Trisomy 17p oboInOwl:hasDbXref UMLS:C0795865 semapv:UnspecifiedMatching +Orphanet:261295 20p12.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261295 20p12.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261295 20p12.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304539 semapv:UnspecifiedMatching +Orphanet:261295 20p12.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.L1 semapv:UnspecifiedMatching +Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching +Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching +Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref MESH:C537228 semapv:UnspecifiedMatching +Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref OMIM:256020 semapv:UnspecifiedMatching +Orphanet:2613 Nail-patella-like renal disease oboInOwl:hasDbXref UMLS:C0403548 semapv:UnspecifiedMatching +Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4510306 semapv:UnspecifiedMatching +Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.L0 semapv:UnspecifiedMatching +Orphanet:261311 20q13.33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261311 20q13.33 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261311 20q13.33 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4518823 semapv:UnspecifiedMatching +Orphanet:261311 20q13.33 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.L0 semapv:UnspecifiedMatching +Orphanet:261318 Trisomy 20p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:261318 Trisomy 20p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:261318 Trisomy 20p oboInOwl:hasDbXref MESH:C535371 semapv:UnspecifiedMatching +Orphanet:261318 Trisomy 20p oboInOwl:hasDbXref UMLS:C2930888 semapv:UnspecifiedMatching +Orphanet:261318 Trisomy 20p oboInOwl:hasDbXref icd11:LD41.K1 semapv:UnspecifiedMatching +Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261323 21q22.11q22.12 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5192593 semapv:UnspecifiedMatching +Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref OMIM:611867 semapv:UnspecifiedMatching +Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4518343 semapv:UnspecifiedMatching +Orphanet:261330 Distal 22q11.2 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.NY semapv:UnspecifiedMatching +Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:261337 Distal 22q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4706942 semapv:UnspecifiedMatching +Orphanet:261344 Trisomy 1q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:261344 Trisomy 1q oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:261344 Trisomy 1q oboInOwl:hasDbXref UMLS:C4708596 semapv:UnspecifiedMatching +Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:612513 semapv:UnspecifiedMatching +Orphanet:261349 2p15p16.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304538 semapv:UnspecifiedMatching +Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref ICD10:L95.8 semapv:UnspecifiedMatching +Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref ICD10:L95.8 semapv:UnspecifiedMatching +Orphanet:26137 Juvenile temporal arteritis oboInOwl:hasDbXref UMLS:C0751547 semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref MedDRA:10063431 semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref OMIM:161200 semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref UMLS:C0027341 semapv:UnspecifiedMatching +Orphanet:2614 Nail-patella syndrome oboInOwl:hasDbXref icd11:LD24.J0 semapv:UnspecifiedMatching +Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref OMIM:300679 semapv:UnspecifiedMatching +Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref UMLS:C0795887 semapv:UnspecifiedMatching +Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref OMIM:300869 semapv:UnspecifiedMatching +Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref UMLS:C5679678 semapv:UnspecifiedMatching +Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref MedDRA:10079365 semapv:UnspecifiedMatching +Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching +Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref UMLS:C4551771 semapv:UnspecifiedMatching +Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion oboInOwl:hasDbXref UMLS:C4518083 semapv:UnspecifiedMatching +Orphanet:261519 Maternal uniparental disomy of chromosome X oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261519 Maternal uniparental disomy of chromosome X oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261519 Maternal uniparental disomy of chromosome X oboInOwl:hasDbXref UMLS:C5191056 semapv:UnspecifiedMatching +Orphanet:261519 Maternal uniparental disomy of chromosome X oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref UMLS:C5191049 semapv:UnspecifiedMatching +Orphanet:261524 Paternal uniparental disomy of chromosome X oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:261529 Ring chromosome Y syndrome oboInOwl:hasDbXref UMLS:C4706450 semapv:UnspecifiedMatching +Orphanet:261534 49,XXXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:261534 49,XXXYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:261534 49,XXXYY syndrome oboInOwl:hasDbXref UMLS:C4749586 semapv:UnspecifiedMatching +Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching +Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref UMLS:C5437617 semapv:UnspecifiedMatching +Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching +Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref UMLS:C5679681 semapv:UnspecifiedMatching +Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion oboInOwl:hasDbXref UMLS:C5548205 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref MESH:C535314 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref MedDRA:10081775 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref OMIM:273750 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref OMIM:612921 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref OMIM:614205 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref UMLS:C1848862 semapv:UnspecifiedMatching +Orphanet:2616 3M syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching +Orphanet:261600 Alagille syndrome due to 20p12 microdeletion oboInOwl:hasDbXref UMLS:C5679679 semapv:UnspecifiedMatching +Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching +Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXref UMLS:C5679680 semapv:UnspecifiedMatching +Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching +Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching +Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref UMLS:C5679682 semapv:UnspecifiedMatching +Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref icd11:LD44.L0 semapv:UnspecifiedMatching +Orphanet:261647 Okihiro syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261647 Okihiro syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261647 Okihiro syndrome due to a point mutation oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching +Orphanet:261647 Okihiro syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5679683 semapv:UnspecifiedMatching +Orphanet:261647 Okihiro syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching +Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref OMIM:617768 semapv:UnspecifiedMatching +Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5680724 semapv:UnspecifiedMatching +Orphanet:261652 Kleefstra syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref MESH:C535448 semapv:UnspecifiedMatching +Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref OMIM:210700 semapv:UnspecifiedMatching +Orphanet:2617 Microcephalic primordial dwarfism, Montreal type oboInOwl:hasDbXref UMLS:C1859468 semapv:UnspecifiedMatching +Orphanet:261766 Partial deletion of chromosome 1 oboInOwl:hasDbXref UMLS:C5679647 semapv:UnspecifiedMatching +Orphanet:261771 Partial deletion of chromosome 2 oboInOwl:hasDbXref UMLS:C5679650 semapv:UnspecifiedMatching +Orphanet:261776 Partial deletion of chromosome 3 oboInOwl:hasDbXref UMLS:C5679651 semapv:UnspecifiedMatching +Orphanet:261781 Partial deletion of chromosome 4 oboInOwl:hasDbXref UMLS:C5679648 semapv:UnspecifiedMatching +Orphanet:261786 Partial deletion of chromosome 5 oboInOwl:hasDbXref UMLS:C5679649 semapv:UnspecifiedMatching +Orphanet:261791 Partial deletion of chromosome 6 oboInOwl:hasDbXref UMLS:C5679654 semapv:UnspecifiedMatching +Orphanet:261796 Partial deletion of chromosome 7 oboInOwl:hasDbXref UMLS:C5679655 semapv:UnspecifiedMatching +Orphanet:261801 Partial deletion of chromosome 8 oboInOwl:hasDbXref UMLS:C5679652 semapv:UnspecifiedMatching +Orphanet:261806 Partial deletion of chromosome 9 oboInOwl:hasDbXref UMLS:C5679653 semapv:UnspecifiedMatching +Orphanet:261811 Partial deletion of chromosome 10 oboInOwl:hasDbXref UMLS:C5679658 semapv:UnspecifiedMatching +Orphanet:261816 Partial deletion of chromosome 11 oboInOwl:hasDbXref UMLS:C5679659 semapv:UnspecifiedMatching +Orphanet:261821 Partial deletion of the long arm of chromosome 12 oboInOwl:hasDbXref UMLS:C5679656 semapv:UnspecifiedMatching +Orphanet:261826 Partial deletion of chromosome 16 oboInOwl:hasDbXref UMLS:C5679657 semapv:UnspecifiedMatching +Orphanet:261831 Partial deletion of chromosome 17 oboInOwl:hasDbXref UMLS:C5679661 semapv:UnspecifiedMatching +Orphanet:261836 Partial deletion of chromosome 18 oboInOwl:hasDbXref UMLS:C5679660 semapv:UnspecifiedMatching +Orphanet:261841 Partial deletion of chromosome 19 oboInOwl:hasDbXref UMLS:C5679663 semapv:UnspecifiedMatching +Orphanet:261846 Partial deletion of chromosome 20 oboInOwl:hasDbXref UMLS:C5679662 semapv:UnspecifiedMatching +Orphanet:261857 Partial deletion of the short arm of chromosome 1 oboInOwl:hasDbXref MESH:C535591 semapv:UnspecifiedMatching +Orphanet:261857 Partial deletion of the short arm of chromosome 1 oboInOwl:hasDbXref UMLS:C0795796 semapv:UnspecifiedMatching +Orphanet:261866 Partial deletion of the short arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679664 semapv:UnspecifiedMatching +Orphanet:261875 Partial deletion of the short arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679666 semapv:UnspecifiedMatching +Orphanet:261884 Partial deletion of the short arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679665 semapv:UnspecifiedMatching +Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref MESH:C537086 semapv:UnspecifiedMatching +Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref OMIM:613342 semapv:UnspecifiedMatching +Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref UMLS:C2931420 semapv:UnspecifiedMatching +Orphanet:2619 Brachydactylous dwarfism, Mseleni type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:261902 Partial deletion of the short arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679667 semapv:UnspecifiedMatching +Orphanet:261902 Partial deletion of the short arm of chromosome 6 oboInOwl:hasDbXref icd11:LD44.61 semapv:UnspecifiedMatching +Orphanet:261911 Partial deletion of the short arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679668 semapv:UnspecifiedMatching +Orphanet:261911 Partial deletion of the short arm of chromosome 7 oboInOwl:hasDbXref icd11:LD44.71 semapv:UnspecifiedMatching +Orphanet:261920 Partial deletion of the short arm of chromosome 8 oboInOwl:hasDbXref MESH:C537826 semapv:UnspecifiedMatching +Orphanet:261920 Partial deletion of the short arm of chromosome 8 oboInOwl:hasDbXref UMLS:C2931635 semapv:UnspecifiedMatching +Orphanet:261920 Partial deletion of the short arm of chromosome 8 oboInOwl:hasDbXref icd11:LD44.81 semapv:UnspecifiedMatching +Orphanet:261929 Partial deletion of the short arm of chromosome 9 oboInOwl:hasDbXref UMLS:C5679669 semapv:UnspecifiedMatching +Orphanet:261929 Partial deletion of the short arm of chromosome 9 oboInOwl:hasDbXref icd11:LD44.91 semapv:UnspecifiedMatching +Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref MESH:C538288 semapv:UnspecifiedMatching +Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795836 semapv:UnspecifiedMatching +Orphanet:261947 Partial deletion of the short arm of chromosome 11 oboInOwl:hasDbXref MESH:C538295 semapv:UnspecifiedMatching +Orphanet:261956 Partial deletion of the short arm of chromosome 16 oboInOwl:hasDbXref UMLS:C5679670 semapv:UnspecifiedMatching +Orphanet:261956 Partial deletion of the short arm of chromosome 16 oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:261965 Partial deletion of the short arm of chromosome 17 oboInOwl:hasDbXref icd11:LD44.H1 semapv:UnspecifiedMatching +Orphanet:261974 Partial deletion of the short arm of chromosome 18 oboInOwl:hasDbXref icd11:LD44.J1 semapv:UnspecifiedMatching +Orphanet:261983 Partial deletion of the short arm of chromosome 19 oboInOwl:hasDbXref UMLS:C5679672 semapv:UnspecifiedMatching +Orphanet:261983 Partial deletion of the short arm of chromosome 19 oboInOwl:hasDbXref icd11:LD44.K1 semapv:UnspecifiedMatching +Orphanet:261992 Partial deletion of the short arm of chromosome 20 oboInOwl:hasDbXref icd11:LD44.L1 semapv:UnspecifiedMatching +Orphanet:262 Duchenne and Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C3542021 semapv:UnspecifiedMatching +Orphanet:262001 Partial deletion of the long arm of chromosome 1 oboInOwl:hasDbXref UMLS:C5679674 semapv:UnspecifiedMatching +Orphanet:262010 Partial deletion of the long arm of chromosome 2 oboInOwl:hasDbXref MESH:C538315 semapv:UnspecifiedMatching +Orphanet:262010 Partial deletion of the long arm of chromosome 2 oboInOwl:hasDbXref UMLS:C0795804 semapv:UnspecifiedMatching +Orphanet:262019 Partial deletion of the long arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679675 semapv:UnspecifiedMatching +Orphanet:262029 Partial deletion of the long arm of chromosome 4 oboInOwl:hasDbXref MESH:C537639 semapv:UnspecifiedMatching +Orphanet:262029 Partial deletion of the long arm of chromosome 4 oboInOwl:hasDbXref UMLS:C0265404 semapv:UnspecifiedMatching +Orphanet:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref MESH:C535323 semapv:UnspecifiedMatching +Orphanet:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref UMLS:C0740302 semapv:UnspecifiedMatching +Orphanet:262038 Partial deletion of the long arm of chromosome 5 oboInOwl:hasDbXref icd11:LD44.50 semapv:UnspecifiedMatching +Orphanet:262047 Partial deletion of the long arm of chromosome 6 oboInOwl:hasDbXref MESH:C537807 semapv:UnspecifiedMatching +Orphanet:262047 Partial deletion of the long arm of chromosome 6 oboInOwl:hasDbXref UMLS:C0795816 semapv:UnspecifiedMatching +Orphanet:262047 Partial deletion of the long arm of chromosome 6 oboInOwl:hasDbXref icd11:LD44.60 semapv:UnspecifiedMatching +Orphanet:262056 Partial deletion of the long arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679676 semapv:UnspecifiedMatching +Orphanet:262056 Partial deletion of the long arm of chromosome 7 oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching +Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref MESH:C537828 semapv:UnspecifiedMatching +Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref UMLS:C0795828 semapv:UnspecifiedMatching +Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref icd11:LD44.80 semapv:UnspecifiedMatching +Orphanet:262074 Partial deletion of the long arm of chromosome 9 oboInOwl:hasDbXref icd11:LD44.90 semapv:UnspecifiedMatching +Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref MESH:C538289 semapv:UnspecifiedMatching +Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795839 semapv:UnspecifiedMatching +Orphanet:262092 Partial deletion of the long arm of chromosome 11 oboInOwl:hasDbXref MESH:C538296 semapv:UnspecifiedMatching +Orphanet:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref MESH:C535484 semapv:UnspecifiedMatching +Orphanet:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref UMLS:C0265451 semapv:UnspecifiedMatching +Orphanet:262110 Partial deletion of the long arm of chromosome 14 oboInOwl:hasDbXref MESH:C538031 semapv:UnspecifiedMatching +Orphanet:262119 Partial deletion of the long arm of chromosome 15 oboInOwl:hasDbXref MESH:C538038 semapv:UnspecifiedMatching +Orphanet:262128 Partial deletion of the long arm of chromosome 16 oboInOwl:hasDbXref icd11:LD44.G0 semapv:UnspecifiedMatching +Orphanet:262137 Partial deletion of the long arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679727 semapv:UnspecifiedMatching +Orphanet:262137 Partial deletion of the long arm of chromosome 17 oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching +Orphanet:262146 Partial deletion of the long arm of chromosome 18 oboInOwl:hasDbXref UMLS:C5679728 semapv:UnspecifiedMatching +Orphanet:262146 Partial deletion of the long arm of chromosome 18 oboInOwl:hasDbXref icd11:LD44.J0 semapv:UnspecifiedMatching +Orphanet:262155 Partial deletion of the long arm of chromosome 19 oboInOwl:hasDbXref UMLS:C5679729 semapv:UnspecifiedMatching +Orphanet:262155 Partial deletion of the long arm of chromosome 19 oboInOwl:hasDbXref icd11:LD44.K0 semapv:UnspecifiedMatching +Orphanet:262164 Partial deletion of the long arm of chromosome 20 oboInOwl:hasDbXref UMLS:C5679730 semapv:UnspecifiedMatching +Orphanet:262164 Partial deletion of the long arm of chromosome 20 oboInOwl:hasDbXref icd11:LD44.L0 semapv:UnspecifiedMatching +Orphanet:262173 Partial deletion of the long arm of chromosome 21 oboInOwl:hasDbXref UMLS:C5679731 semapv:UnspecifiedMatching +Orphanet:262182 Partial deletion of the long arm of chromosome 22 oboInOwl:hasDbXref UMLS:C5679725 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref MedDRA:10063361 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:231050 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:614185 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:617809 semapv:UnspecifiedMatching +Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref UMLS:C3489726 semapv:UnspecifiedMatching +Orphanet:262638 Partial duplication of chromosome 8 oboInOwl:hasDbXref MESH:C537941 semapv:UnspecifiedMatching +Orphanet:262698 Partial duplication of the short arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679718 semapv:UnspecifiedMatching +Orphanet:262698 Partial duplication of the short arm of chromosome 2 oboInOwl:hasDbXref icd11:LD41.11 semapv:UnspecifiedMatching +Orphanet:262707 Partial duplication of the short arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679720 semapv:UnspecifiedMatching +Orphanet:262716 Partial duplication of the short arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679719 semapv:UnspecifiedMatching +Orphanet:262740 Partial duplication of the short arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679721 semapv:UnspecifiedMatching +Orphanet:262749 Partial duplication of the short arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679713 semapv:UnspecifiedMatching +Orphanet:262776 Partial duplication of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C5679712 semapv:UnspecifiedMatching +Orphanet:262776 Partial duplication of the short arm of chromosome 10 oboInOwl:hasDbXref icd11:LD41.91 semapv:UnspecifiedMatching +Orphanet:262785 Partial duplication of the short arm of chromosome 11 oboInOwl:hasDbXref UMLS:C5679716 semapv:UnspecifiedMatching +Orphanet:262803 Partial duplication of the short arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679714 semapv:UnspecifiedMatching +Orphanet:262833 Partial duplication of the long arm of chromosome 1 oboInOwl:hasDbXref icd11:LD41.00 semapv:UnspecifiedMatching +Orphanet:262842 Partial duplication of the long arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679706 semapv:UnspecifiedMatching +Orphanet:262851 Partial duplication of the long arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679707 semapv:UnspecifiedMatching +Orphanet:262860 Partial duplication of the long arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679710 semapv:UnspecifiedMatching +Orphanet:262878 Partial duplication of the long arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679708 semapv:UnspecifiedMatching +Orphanet:262887 Partial duplication of the long arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679709 semapv:UnspecifiedMatching +Orphanet:262896 Partial duplication of the long arm of chromosome 8 oboInOwl:hasDbXref UMLS:C5679703 semapv:UnspecifiedMatching +Orphanet:262914 Partial duplication of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C5679701 semapv:UnspecifiedMatching +Orphanet:262914 Partial duplication of the long arm of chromosome 10 oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching +Orphanet:262923 Partial duplication of the long arm of chromosome 11 oboInOwl:hasDbXref UMLS:C5679700 semapv:UnspecifiedMatching +Orphanet:262932 Partial duplication of the long arm of chromosome 13 oboInOwl:hasDbXref UMLS:C5679705 semapv:UnspecifiedMatching +Orphanet:262941 Partial duplication of the long arm of chromosome 14 oboInOwl:hasDbXref UMLS:C5679704 semapv:UnspecifiedMatching +Orphanet:262941 Partial duplication of the long arm of chromosome 14 oboInOwl:hasDbXref icd11:LD41.D semapv:UnspecifiedMatching +Orphanet:262950 Partial duplication of the long arm of chromosome 15 oboInOwl:hasDbXref icd11:LD41.E semapv:UnspecifiedMatching +Orphanet:262968 Partial duplication of the long arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679698 semapv:UnspecifiedMatching +Orphanet:262986 Partial duplication of the long arm of chromosome 19 oboInOwl:hasDbXref UMLS:C5679696 semapv:UnspecifiedMatching +Orphanet:262986 Partial duplication of the long arm of chromosome 19 oboInOwl:hasDbXref icd11:LD41.J0 semapv:UnspecifiedMatching +Orphanet:262995 Partial duplication of the long arm of chromosome 20 oboInOwl:hasDbXref icd11:LD41.K0 semapv:UnspecifiedMatching +Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv:UnspecifiedMatching +Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C0686353 semapv:UnspecifiedMatching +Orphanet:263004 Partial duplication of the long arm of chromosome 22 oboInOwl:hasDbXref UMLS:C5679699 semapv:UnspecifiedMatching +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref MESH:C535294 semapv:UnspecifiedMatching +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref OMIM:249710 semapv:UnspecifiedMatching +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref UMLS:C2930871 semapv:UnspecifiedMatching +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref MESH:C537267 semapv:UnspecifiedMatching +Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref OMIM:249700 semapv:UnspecifiedMatching +Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref UMLS:C0432230 semapv:UnspecifiedMatching +Orphanet:2632 Langer mesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref OMIM:613507 semapv:UnspecifiedMatching +Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref UMLS:C4303568 semapv:UnspecifiedMatching +Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref MESH:C536120 semapv:UnspecifiedMatching +Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref OMIM:163400 semapv:UnspecifiedMatching +Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref UMLS:C0432231 semapv:UnspecifiedMatching +Orphanet:2633 Mesomelic dysplasia, Nievergelt type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref UMLS:C1266091 semapv:UnspecifiedMatching +Orphanet:263310 Thymoma type A oboInOwl:hasDbXref icd11:XH6WN9 semapv:UnspecifiedMatching +Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:263317 Thymoma type B oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:263317 Thymoma type B oboInOwl:hasDbXref UMLS:C1328042 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref UMLS:C1266092 semapv:UnspecifiedMatching +Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C5680730 semapv:UnspecifiedMatching +Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching +Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref OMIM:619082 semapv:UnspecifiedMatching +Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref UMLS:C4749856 semapv:UnspecifiedMatching +Orphanet:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref ICD10:I97.8 semapv:UnspecifiedMatching +Orphanet:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref ICD10:I97.8 semapv:UnspecifiedMatching +Orphanet:263352 Postcardiotomy right ventricular failure oboInOwl:hasDbXref UMLS:C5680731 semapv:UnspecifiedMatching +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref MESH:C537349 semapv:UnspecifiedMatching +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref OMIM:191400 semapv:UnspecifiedMatching +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref UMLS:C1860616 semapv:UnspecifiedMatching +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching +Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome oboInOwl:hasDbXref UMLS:C5190692 semapv:UnspecifiedMatching +Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref MedDRA:10002476 semapv:UnspecifiedMatching +Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref UMLS:C0018923 semapv:UnspecifiedMatching +Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref icd11:2B56 semapv:UnspecifiedMatching +Orphanet:263417 Bartter syndrome with hypocalcemia oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching +Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref MESH:D009507 semapv:UnspecifiedMatching +Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref MedDRA:10051713 semapv:UnspecifiedMatching +Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref UMLS:C0027961 semapv:UnspecifiedMatching +Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching +Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref ICD10:D22.6 semapv:UnspecifiedMatching +Orphanet:263432 Nevus of Ito oboInOwl:hasDbXref UMLS:C0022283 semapv:UnspecifiedMatching +Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref ICD10:C44.8 semapv:UnspecifiedMatching +Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref ICD10:C44.8 semapv:UnspecifiedMatching +Orphanet:263435 Congenital smooth muscle hamartoma oboInOwl:hasDbXref UMLS:C0406819 semapv:UnspecifiedMatching +Orphanet:263440 Neuroacanthocytosis oboInOwl:hasDbXref MESH:D054546 semapv:UnspecifiedMatching +Orphanet:263440 Neuroacanthocytosis oboInOwl:hasDbXref MedDRA:10081506 semapv:UnspecifiedMatching +Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency oboInOwl:hasDbXref UMLS:C4274078 semapv:UnspecifiedMatching +Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref OMIM:609968 semapv:UnspecifiedMatching +Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref UMLS:C5679694 semapv:UnspecifiedMatching +Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref OMIM:143095 semapv:UnspecifiedMatching +Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref MedDRA:10017406 semapv:UnspecifiedMatching +Orphanet:263479 Fuchs heterochromic iridocyclitis oboInOwl:hasDbXref UMLS:C0016782 semapv:UnspecifiedMatching +Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref MESH:C538174 semapv:UnspecifiedMatching +Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref UMLS:C0392610 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:263487 COG5-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263487 COG5-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263487 COG5-CDG oboInOwl:hasDbXref OMIM:613612 semapv:UnspecifiedMatching +Orphanet:263487 COG5-CDG oboInOwl:hasDbXref UMLS:C3150876 semapv:UnspecifiedMatching +Orphanet:263487 COG5-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref MESH:C567077 semapv:UnspecifiedMatching +Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref MedDRA:10068370 semapv:UnspecifiedMatching +Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref UMLS:C2363755 semapv:UnspecifiedMatching +Orphanet:26349 Protein S acquired deficiency oboInOwl:hasDbXref icd11:3B61.1 semapv:UnspecifiedMatching +Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref MESH:C567857 semapv:UnspecifiedMatching +Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref OMIM:612937 semapv:UnspecifiedMatching +Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref UMLS:C2752007 semapv:UnspecifiedMatching +Orphanet:263494 DPM3-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref MESH:C537356 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref MedDRA:10082970 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref OMIM:156530 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref UMLS:C0265281 semapv:UnspecifiedMatching +Orphanet:2635 Metatropic dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:263501 COG4-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263501 COG4-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263501 COG4-CDG oboInOwl:hasDbXref OMIM:613489 semapv:UnspecifiedMatching +Orphanet:263501 COG4-CDG oboInOwl:hasDbXref UMLS:C4303552 semapv:UnspecifiedMatching +Orphanet:263501 COG4-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:263508 COG1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263508 COG1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:263508 COG1-CDG oboInOwl:hasDbXref MESH:C535756 semapv:UnspecifiedMatching +Orphanet:263508 COG1-CDG oboInOwl:hasDbXref OMIM:611209 semapv:UnspecifiedMatching +Orphanet:263508 COG1-CDG oboInOwl:hasDbXref UMLS:C2931011 semapv:UnspecifiedMatching +Orphanet:263508 COG1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref MESH:C567095 semapv:UnspecifiedMatching +Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching +Orphanet:263516 Progressive myoclonic epilepsy type 3 oboInOwl:hasDbXref UMLS:C2673257 semapv:UnspecifiedMatching +Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref OMIM:614212 semapv:UnspecifiedMatching +Orphanet:263524 Acute necrotizing encephalopathy of childhood oboInOwl:hasDbXref UMLS:C4706387 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref MESH:C536316 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref MedDRA:10078538 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref OMIM:609796 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref UMLS:C1853354 semapv:UnspecifiedMatching +Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching +Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching +Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref UMLS:C4305156 semapv:UnspecifiedMatching +Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:618084 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref UMLS:C5679692 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching +Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching +Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref UMLS:C5679693 semapv:UnspecifiedMatching +Orphanet:263553 Peeling skin syndrome type B oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref OMIM:210710 semapv:UnspecifiedMatching +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref OMIM:210730 semapv:UnspecifiedMatching +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III oboInOwl:hasDbXref UMLS:C4319565 semapv:UnspecifiedMatching +Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching +Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref ICD10:D32.9 semapv:UnspecifiedMatching +Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref OMIM:607174 semapv:UnspecifiedMatching +Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref UMLS:C4707361 semapv:UnspecifiedMatching +Orphanet:263662 Familial multiple meningioma oboInOwl:hasDbXref icd11:2A01.00 semapv:UnspecifiedMatching +Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:263665 NK-cell enteropathy oboInOwl:hasDbXref UMLS:C4509932 semapv:UnspecifiedMatching +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref MESH:C565898 semapv:UnspecifiedMatching +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref OMIM:210720 semapv:UnspecifiedMatching +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref UMLS:C0432246 semapv:UnspecifiedMatching +Orphanet:263708 Complex chromosomal rearrangement oboInOwl:hasDbXref UMLS:C5680729 semapv:UnspecifiedMatching +Orphanet:263717 X chromosome number anomaly with female phenotype oboInOwl:hasDbXref UMLS:C5680728 semapv:UnspecifiedMatching +Orphanet:263720 X chromosome number anomaly with male phenotype oboInOwl:hasDbXref UMLS:C5680727 semapv:UnspecifiedMatching +Orphanet:263723 Polysomy of X chromosome oboInOwl:hasDbXref UMLS:C5680726 semapv:UnspecifiedMatching +Orphanet:263726 Partial deletion of chromosome X oboInOwl:hasDbXref UMLS:C5679690 semapv:UnspecifiedMatching +Orphanet:263749 X and Y chromosomal anomaly oboInOwl:hasDbXref UMLS:C5680725 semapv:UnspecifiedMatching +Orphanet:263756 Partial deletion of the long arm of chromosome X oboInOwl:hasDbXref UMLS:C5679688 semapv:UnspecifiedMatching +Orphanet:263768 Partial duplication of chromosome X oboInOwl:hasDbXref UMLS:C5679687 semapv:UnspecifiedMatching +Orphanet:263775 Partial duplication of the short arm of chromosome X oboInOwl:hasDbXref UMLS:C5679686 semapv:UnspecifiedMatching +Orphanet:263783 Partial duplication of the long arm of chromosome X oboInOwl:hasDbXref UMLS:C5679685 semapv:UnspecifiedMatching +Orphanet:263793 Uniparental disomy of chromosome X oboInOwl:hasDbXref UMLS:C5679684 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref MESH:C537931 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:228900 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1856738 semapv:UnspecifiedMatching +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching +Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:159001 semapv:UnspecifiedMatching +Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1834653 semapv:UnspecifiedMatching +Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching +Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.E semapv:UnspecifiedMatching +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref MESH:C537321 semapv:UnspecifiedMatching +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref OMIM:251190 semapv:UnspecifiedMatching +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref UMLS:C1855089 semapv:UnspecifiedMatching +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:264431 Partial duplication of the short arm of chromosome 1 oboInOwl:hasDbXref UMLS:C5679751 semapv:UnspecifiedMatching +Orphanet:264431 Partial duplication of the short arm of chromosome 1 oboInOwl:hasDbXref icd11:LD41.01 semapv:UnspecifiedMatching +Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref ICD10:Q92.2 semapv:UnspecifiedMatching +Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref MESH:C538019 semapv:UnspecifiedMatching +Orphanet:264450 Trisomy 8p oboInOwl:hasDbXref UMLS:C0795825 semapv:UnspecifiedMatching +Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref MESH:C536050 semapv:UnspecifiedMatching +Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref OMIM:166250 semapv:UnspecifiedMatching +Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref UMLS:C0432283 semapv:UnspecifiedMatching +Orphanet:2645 Osteoglosphonic dysplasia oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:306000 semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:613027 semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C5575419 semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:264656 Interstitial lung disease specific to childhood oboInOwl:hasDbXref UMLS:C5679752 semapv:UnspecifiedMatching +Orphanet:264665 Primary interstitial lung disease specific to childhood oboInOwl:hasDbXref UMLS:C5679754 semapv:UnspecifiedMatching +Orphanet:264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder oboInOwl:hasDbXref UMLS:C5679753 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref MESH:C535832 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C2931035 semapv:UnspecifiedMatching +Orphanet:264675 Hereditary pulmonary alveolar proteinosis oboInOwl:hasDbXref icd11:CB04.31 semapv:UnspecifiedMatching +Orphanet:264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder oboInOwl:hasDbXref UMLS:C5679755 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref MESH:C535461 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref MedDRA:10078770 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref OMIM:603523 semapv:UnspecifiedMatching +Orphanet:264688 Congenital chylothorax oboInOwl:hasDbXref UMLS:C0340014 semapv:UnspecifiedMatching +Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:264691 Isolated pulmonary capillaritis oboInOwl:hasDbXref UMLS:C3873357 semapv:UnspecifiedMatching +Orphanet:264694 Interstitial lung disease specific to infancy oboInOwl:hasDbXref UMLS:C5679737 semapv:UnspecifiedMatching +Orphanet:264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease oboInOwl:hasDbXref UMLS:C5679738 semapv:UnspecifiedMatching +Orphanet:264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease oboInOwl:hasDbXref UMLS:C5679739 semapv:UnspecifiedMatching +Orphanet:264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis oboInOwl:hasDbXref UMLS:C5679740 semapv:UnspecifiedMatching +Orphanet:264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease oboInOwl:hasDbXref UMLS:C5679741 semapv:UnspecifiedMatching +Orphanet:264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease oboInOwl:hasDbXref UMLS:C5679742 semapv:UnspecifiedMatching +Orphanet:264735 Interstitial lung disease specific to adulthood oboInOwl:hasDbXref UMLS:C5679743 semapv:UnspecifiedMatching +Orphanet:264740 Primary interstitial lung disease specific to adulthood oboInOwl:hasDbXref UMLS:C5679744 semapv:UnspecifiedMatching +Orphanet:264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease oboInOwl:hasDbXref UMLS:C5679745 semapv:UnspecifiedMatching +Orphanet:264757 Interstitial lung disease in childhood and adulthood oboInOwl:hasDbXref UMLS:C5679746 semapv:UnspecifiedMatching +Orphanet:264762 Primary interstitial lung disease in childhood and adulthood oboInOwl:hasDbXref UMLS:C5679747 semapv:UnspecifiedMatching +Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching +Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C2930979 semapv:UnspecifiedMatching +Orphanet:264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder oboInOwl:hasDbXref UMLS:C5679748 semapv:UnspecifiedMatching +Orphanet:264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder oboInOwl:hasDbXref UMLS:C5679749 semapv:UnspecifiedMatching +Orphanet:264944 Secondary interstitial lung disease in childhood and adulthood oboInOwl:hasDbXref UMLS:C5679750 semapv:UnspecifiedMatching +Orphanet:264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease oboInOwl:hasDbXref UMLS:C5679735 semapv:UnspecifiedMatching +Orphanet:264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease oboInOwl:hasDbXref UMLS:C5679734 semapv:UnspecifiedMatching +Orphanet:264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis oboInOwl:hasDbXref UMLS:C5679733 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.2 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.3 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref ICD10:J70.4 semapv:UnspecifiedMatching +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref UMLS:C5680746 semapv:UnspecifiedMatching +Orphanet:264984 Exposure-related interstitial lung disease oboInOwl:hasDbXref UMLS:C5680745 semapv:UnspecifiedMatching +Orphanet:264992 Genetic interstitial lung disease oboInOwl:hasDbXref UMLS:C5679736 semapv:UnspecifiedMatching +Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching +Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1832567 semapv:UnspecifiedMatching +Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4302825 semapv:UnspecifiedMatching +Orphanet:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref OMIM:272450 semapv:UnspecifiedMatching +Orphanet:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref UMLS:C2931647 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref MESH:D013796 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref MedDRA:10049808 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:156830 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching +Orphanet:2655 Thanatophoric dysplasia oboInOwl:hasDbXref UMLS:C0039743 semapv:UnspecifiedMatching +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MESH:C537115 semapv:UnspecifiedMatching +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref OMIM:151050 semapv:UnspecifiedMatching +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS:C0432269 semapv:UnspecifiedMatching +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:159000 semapv:UnspecifiedMatching +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A oboInOwl:hasDbXref UMLS:C4304304 semapv:UnspecifiedMatching +Orphanet:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref MESH:C535725 semapv:UnspecifiedMatching +Orphanet:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref OMIM:126950 semapv:UnspecifiedMatching +Orphanet:2661 Dwarfism-tall vertebrae syndrome oboInOwl:hasDbXref UMLS:C1851996 semapv:UnspecifiedMatching +Orphanet:2662 Keipert syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2662 Keipert syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2662 Keipert syndrome oboInOwl:hasDbXref MESH:C538337 semapv:UnspecifiedMatching +Orphanet:2662 Keipert syndrome oboInOwl:hasDbXref OMIM:301026 semapv:UnspecifiedMatching +Orphanet:2662 Keipert syndrome oboInOwl:hasDbXref UMLS:C1850627 semapv:UnspecifiedMatching +Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref MESH:C538342 semapv:UnspecifiedMatching +Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref OMIM:255990 semapv:UnspecifiedMatching +Orphanet:2663 Nathalie syndrome oboInOwl:hasDbXref UMLS:C1850626 semapv:UnspecifiedMatching +Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref ICD10:D41.0 semapv:UnspecifiedMatching +Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MESH:D018201 semapv:UnspecifiedMatching +Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref MedDRA:10070665 semapv:UnspecifiedMatching +Orphanet:2665 Congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS:C1332965 semapv:UnspecifiedMatching +Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching +Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome oboInOwl:hasDbXref UMLS:C4518090 semapv:UnspecifiedMatching +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref MESH:C536401 semapv:UnspecifiedMatching +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref OMIM:256120 semapv:UnspecifiedMatching +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome oboInOwl:hasDbXref UMLS:C4518325 semapv:UnspecifiedMatching +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref MESH:C536402 semapv:UnspecifiedMatching +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref OMIM:256200 semapv:UnspecifiedMatching +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome oboInOwl:hasDbXref UMLS:C4510366 semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref MESH:C535895 semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:253600 semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:618129 semapv:UnspecifiedMatching +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref UMLS:C1869123 semapv:UnspecifiedMatching +Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref MESH:C537185 semapv:UnspecifiedMatching +Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref OMIM:609049 semapv:UnspecifiedMatching +Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref UMLS:C1836876 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref MESH:C536405 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref OMIM:616038 semapv:UnspecifiedMatching +Orphanet:2671 Neu-Laxova syndrome oboInOwl:hasDbXref UMLS:C0265218 semapv:UnspecifiedMatching +Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref MESH:C536407 semapv:UnspecifiedMatching +Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref OMIM:130950 semapv:UnspecifiedMatching +Orphanet:2672 Neuhauser-Eichner-Opitz syndrome oboInOwl:hasDbXref UMLS:C1851708 semapv:UnspecifiedMatching +Orphanet:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref MESH:C537388 semapv:UnspecifiedMatching +Orphanet:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref OMIM:256690 semapv:UnspecifiedMatching +Orphanet:2673 Neurofaciodigitorenal syndrome oboInOwl:hasDbXref UMLS:C0796088 semapv:UnspecifiedMatching +Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref MESH:C536229 semapv:UnspecifiedMatching +Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref OMIM:123853 semapv:UnspecifiedMatching +Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome oboInOwl:hasDbXref UMLS:C1852396 semapv:UnspecifiedMatching +Orphanet:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref ICD10:L81.3 semapv:UnspecifiedMatching +Orphanet:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref ICD10:L81.3 semapv:UnspecifiedMatching +Orphanet:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref OMIM:114030 semapv:UnspecifiedMatching +Orphanet:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref UMLS:C1861975 semapv:UnspecifiedMatching +Orphanet:2678 Familial isolated café-au-lait macules oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching +Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref ICD10:C78.6 semapv:UnspecifiedMatching +Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref ICD10:C78.6 semapv:UnspecifiedMatching +Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:UnspecifiedMatching +Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MedDRA:10037138 semapv:UnspecifiedMatching +Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref UMLS:C0033822 semapv:UnspecifiedMatching +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054069 semapv:UnspecifiedMatching +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268596 semapv:UnspecifiedMatching +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C537596 semapv:UnspecifiedMatching +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201470 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536353 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10072656 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201475 semapv:UnspecifiedMatching +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3887523 semapv:UnspecifiedMatching +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref MESH:C535899 semapv:UnspecifiedMatching +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref OMIM:253601 semapv:UnspecifiedMatching +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 oboInOwl:hasDbXref UMLS:C1850889 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:616286 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:616287 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:617468 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:618186 semapv:UnspecifiedMatching +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome oboInOwl:hasDbXref UMLS:C4707882 semapv:UnspecifiedMatching +Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref OMIM:614470 semapv:UnspecifiedMatching +Orphanet:268114 RAS-associated autoimmune leukoproliferative disease oboInOwl:hasDbXref UMLS:C2674723 semapv:UnspecifiedMatching +Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref MESH:C000598645 semapv:UnspecifiedMatching +Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref OMIM:182920 semapv:UnspecifiedMatching +Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref UMLS:C1866785 semapv:UnspecifiedMatching +Orphanet:268129 Spheroid body myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref ICD10:D31.4 semapv:UnspecifiedMatching +Orphanet:268139 Intraocular medulloepithelioma oboInOwl:hasDbXref UMLS:C1883694 semapv:UnspecifiedMatching +Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching +Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref UMLS:C0268568 semapv:UnspecifiedMatching +Orphanet:268145 Classic maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching +Orphanet:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching +Orphanet:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching +Orphanet:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref UMLS:C1621920 semapv:UnspecifiedMatching +Orphanet:268162 Intermediate maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching +Orphanet:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching +Orphanet:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref UMLS:C0268569 semapv:UnspecifiedMatching +Orphanet:268173 Intermittent maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching +Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching +Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref UMLS:C0751285 semapv:UnspecifiedMatching +Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching +Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref UMLS:C4509879 semapv:UnspecifiedMatching +Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching +Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion oboInOwl:hasDbXref UMLS:C5191008 semapv:UnspecifiedMatching +Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref ICD10:Y84.1 semapv:UnspecifiedMatching +Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref MedDRA:10070476 semapv:UnspecifiedMatching +Orphanet:268316 Complication in hemodialysis oboInOwl:hasDbXref UMLS:C0274417 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching +Orphanet:268322 Hereditary thrombocytopenia with normal platelets oboInOwl:hasDbXref UMLS:C5190888 semapv:UnspecifiedMatching +Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C5679732 semapv:UnspecifiedMatching +Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:182940 semapv:UnspecifiedMatching +Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching +Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching +Orphanet:268357 Neural tube closure defect oboInOwl:hasDbXref UMLS:C5680742 semapv:UnspecifiedMatching +Orphanet:268363 Open iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching +Orphanet:268363 Open iniencephaly oboInOwl:hasDbXref UMLS:C0431285 semapv:UnspecifiedMatching +Orphanet:268366 Closed iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching +Orphanet:268366 Closed iniencephaly oboInOwl:hasDbXref UMLS:C0431286 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.4 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.4 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.5 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.5 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.6 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.6 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref MedDRA:10053176 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref UMLS:C0221023 semapv:UnspecifiedMatching +Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching +Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref UMLS:C2930809 semapv:UnspecifiedMatching +Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MESH:D016137 semapv:UnspecifiedMatching +Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MedDRA:10071011 semapv:UnspecifiedMatching +Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref UMLS:C0037917 semapv:UnspecifiedMatching +Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref OMIM:607847 semapv:UnspecifiedMatching +Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref UMLS:C5191335 semapv:UnspecifiedMatching +Orphanet:2688 Adult idiopathic neutropenia oboInOwl:hasDbXref icd11:4B00.01 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref UMLS:C5680741 semapv:UnspecifiedMatching +Orphanet:268810 Isolated posterior meningocele oboInOwl:hasDbXref icd11:LA02.0Y semapv:UnspecifiedMatching +Orphanet:268813 Myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268813 Myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268813 Myelocystocele oboInOwl:hasDbXref UMLS:C4551677 semapv:UnspecifiedMatching +Orphanet:268813 Myelocystocele oboInOwl:hasDbXref icd11:LA02.02 semapv:UnspecifiedMatching +Orphanet:268817 Cephalocele oboInOwl:hasDbXref ICD10:Q01 semapv:UnspecifiedMatching +Orphanet:268817 Cephalocele oboInOwl:hasDbXref ICD10:Q01 semapv:UnspecifiedMatching +Orphanet:268817 Cephalocele oboInOwl:hasDbXref UMLS:C0014065 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.0 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref ICD10:Q01.9 semapv:UnspecifiedMatching +Orphanet:268820 Cranial meningocele oboInOwl:hasDbXref UMLS:C0009694 semapv:UnspecifiedMatching +Orphanet:268823 Occipital encephalocele oboInOwl:hasDbXref ICD10:Q01.2 semapv:UnspecifiedMatching +Orphanet:268823 Occipital encephalocele oboInOwl:hasDbXref UMLS:C0014067 semapv:UnspecifiedMatching +Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:268826 Parietal encephalocele oboInOwl:hasDbXref UMLS:C0431294 semapv:UnspecifiedMatching +Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching +Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref UMLS:C4023176 semapv:UnspecifiedMatching +Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref UMLS:C1836022 semapv:UnspecifiedMatching +Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column oboInOwl:hasDbXref UMLS:C5680733 semapv:UnspecifiedMatching +Orphanet:268861 Primary tethered cord syndrome oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:268861 Primary tethered cord syndrome oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:268861 Primary tethered cord syndrome oboInOwl:hasDbXref UMLS:C4708602 semapv:UnspecifiedMatching +Orphanet:268861 Primary tethered cord syndrome oboInOwl:hasDbXref icd11:LA07.0 semapv:UnspecifiedMatching +Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:268865 Neurenteric cyst oboInOwl:hasDbXref UMLS:C0027806 semapv:UnspecifiedMatching +Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref ICD10:Q06.0 semapv:UnspecifiedMatching +Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref UMLS:C0266510 semapv:UnspecifiedMatching +Orphanet:268868 Isolated amyelia oboInOwl:hasDbXref icd11:LA07.2 semapv:UnspecifiedMatching +Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref ICD10:Q07.0 semapv:UnspecifiedMatching +Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref ICD10:Q07.0 semapv:UnspecifiedMatching +Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref MedDRA:10056944 semapv:UnspecifiedMatching +Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref OMIM:118420 semapv:UnspecifiedMatching +Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref UMLS:C0750929 semapv:UnspecifiedMatching +Orphanet:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching +Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching +Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref MESH:D058627 semapv:UnspecifiedMatching +Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref UMLS:C0221355 semapv:UnspecifiedMatching +Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref icd11:LA05.1 semapv:UnspecifiedMatching +Orphanet:268926 Midline cerebral malformation oboInOwl:hasDbXref UMLS:C5679771 semapv:UnspecifiedMatching +Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref ICD10:Q04.1 semapv:UnspecifiedMatching +Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref UMLS:C4749732 semapv:UnspecifiedMatching +Orphanet:268936 Isolated arhinencephaly oboInOwl:hasDbXref icd11:LA05.4 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:300388 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:606854 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:612691 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:615752 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref OMIM:616531 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref UMLS:C4707565 semapv:UnspecifiedMatching +Orphanet:268940 Bilateral polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:268943 Unilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:268943 Unilateral polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:268943 Unilateral polymicrogyria oboInOwl:hasDbXref UMLS:C4024960 semapv:UnspecifiedMatching +Orphanet:268943 Unilateral polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:268947 Unilateral focal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:268947 Unilateral focal polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:268947 Unilateral focal polymicrogyria oboInOwl:hasDbXref UMLS:C5680773 semapv:UnspecifiedMatching +Orphanet:268947 Unilateral focal polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:268950 Cerebral cortical dysplasia oboInOwl:hasDbXref UMLS:C0431380 semapv:UnspecifiedMatching +Orphanet:268950 Cerebral cortical dysplasia oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:268961 Isolated focal cortical dysplasia type I oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268961 Isolated focal cortical dysplasia type I oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268961 Isolated focal cortical dysplasia type I oboInOwl:hasDbXref UMLS:C5679772 semapv:UnspecifiedMatching +Orphanet:268961 Isolated focal cortical dysplasia type I oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:268973 Isolated focal cortical dysplasia type Ia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268973 Isolated focal cortical dysplasia type Ia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268973 Isolated focal cortical dysplasia type Ia oboInOwl:hasDbXref UMLS:C5679767 semapv:UnspecifiedMatching +Orphanet:268973 Isolated focal cortical dysplasia type Ia oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:268980 Isolated focal cortical dysplasia type Ib oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268980 Isolated focal cortical dysplasia type Ib oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268980 Isolated focal cortical dysplasia type Ib oboInOwl:hasDbXref UMLS:C5679765 semapv:UnspecifiedMatching +Orphanet:268980 Isolated focal cortical dysplasia type Ib oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:268987 Isolated focal cortical dysplasia type Ic oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268987 Isolated focal cortical dysplasia type Ic oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268987 Isolated focal cortical dysplasia type Ic oboInOwl:hasDbXref UMLS:C5679766 semapv:UnspecifiedMatching +Orphanet:268987 Isolated focal cortical dysplasia type Ic oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching +Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref UMLS:C5679769 semapv:UnspecifiedMatching +Orphanet:268994 Isolated focal cortical dysplasia type II oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref MESH:D020391 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref MedDRA:10064087 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158900 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:158901 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:600416 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:619477 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref OMIM:619478 semapv:UnspecifiedMatching +Orphanet:269 Facioscapulohumeral dystrophy oboInOwl:hasDbXref UMLS:C0238288 semapv:UnspecifiedMatching +Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome oboInOwl:hasDbXref UMLS:C4518430 semapv:UnspecifiedMatching +Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching +Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref UMLS:C5679770 semapv:UnspecifiedMatching +Orphanet:269001 Isolated focal cortical dysplasia type IIa oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching +Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref UMLS:C5679768 semapv:UnspecifiedMatching +Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref MESH:C536113 semapv:UnspecifiedMatching +Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching +Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref UMLS:C2936777 semapv:UnspecifiedMatching +Orphanet:269190 Encephaloclastic disorder oboInOwl:hasDbXref UMLS:C5680772 semapv:UnspecifiedMatching +Orphanet:269194 Central nervous system cystic malformation oboInOwl:hasDbXref UMLS:C5680777 semapv:UnspecifiedMatching +Orphanet:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching +Orphanet:269197 Glioependymal/ependymal cyst oboInOwl:hasDbXref UMLS:C0338599 semapv:UnspecifiedMatching +Orphanet:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269203 Isolated cerebellar vermis agenesis oboInOwl:hasDbXref UMLS:C5680776 semapv:UnspecifiedMatching +Orphanet:269206 Isolated total cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269206 Isolated total cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269206 Isolated total cerebellar vermis agenesis oboInOwl:hasDbXref UMLS:C5680781 semapv:UnspecifiedMatching +Orphanet:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269209 Isolated partial cerebellar vermis agenesis oboInOwl:hasDbXref UMLS:C5680780 semapv:UnspecifiedMatching +Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref UMLS:C5680779 semapv:UnspecifiedMatching +Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus oboInOwl:hasDbXref icd11:LA06.0 semapv:UnspecifiedMatching +Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref UMLS:C5680778 semapv:UnspecifiedMatching +Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus oboInOwl:hasDbXref icd11:LA06.0 semapv:UnspecifiedMatching +Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref UMLS:C4707885 semapv:UnspecifiedMatching +Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref icd11:LA06.1 semapv:UnspecifiedMatching +Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref UMLS:C4749791 semapv:UnspecifiedMatching +Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia oboInOwl:hasDbXref icd11:LA06.1 semapv:UnspecifiedMatching +Orphanet:269224 Global cerebellar malformation oboInOwl:hasDbXref UMLS:C5679773 semapv:UnspecifiedMatching +Orphanet:269229 Pontine tegmental cap dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:269229 Pontine tegmental cap dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:269229 Pontine tegmental cap dysplasia oboInOwl:hasDbXref OMIM:614688 semapv:UnspecifiedMatching +Orphanet:269229 Pontine tegmental cap dysplasia oboInOwl:hasDbXref UMLS:C3541340 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref ICD10:Q30.2 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref ICD10:Q30.2 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref MESH:C535441 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref OMIM:109740 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref OMIM:210400 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref UMLS:C0221363 semapv:UnspecifiedMatching +Orphanet:2695 Bifid nose oboInOwl:hasDbXref icd11:LA70.1 semapv:UnspecifiedMatching +Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching +Orphanet:269505 Congenital communicating hydrocephalus oboInOwl:hasDbXref UMLS:C5679774 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref icd11:8D64.1 semapv:UnspecifiedMatching +Orphanet:269523 Syndrome with a cerebellar malformation as a major feature oboInOwl:hasDbXref UMLS:C5680775 semapv:UnspecifiedMatching +Orphanet:269528 Syndrome with microcephaly as a major feature oboInOwl:hasDbXref UMLS:C5680774 semapv:UnspecifiedMatching +Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature oboInOwl:hasDbXref UMLS:C5680765 semapv:UnspecifiedMatching +Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature oboInOwl:hasDbXref UMLS:C5680766 semapv:UnspecifiedMatching +Orphanet:269550 Genetic non-syndromic central nervous system malformation oboInOwl:hasDbXref UMLS:C5680767 semapv:UnspecifiedMatching +Orphanet:269553 Genetic cerebral malformation oboInOwl:hasDbXref UMLS:C5679762 semapv:UnspecifiedMatching +Orphanet:269557 Genetic posterior fossa malformation oboInOwl:hasDbXref UMLS:C5680768 semapv:UnspecifiedMatching +Orphanet:269560 Genetic cerebellar malformation oboInOwl:hasDbXref UMLS:C5680769 semapv:UnspecifiedMatching +Orphanet:269564 Genetic syndrome with a central nervous system malformation as a major feature oboInOwl:hasDbXref UMLS:C5679763 semapv:UnspecifiedMatching +Orphanet:269567 Genetic syndrome with a cerebellar malformation as a major feature oboInOwl:hasDbXref UMLS:C5680762 semapv:UnspecifiedMatching +Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as a major feature oboInOwl:hasDbXref UMLS:C5680763 semapv:UnspecifiedMatching +Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature oboInOwl:hasDbXref UMLS:C5680764 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref ICD10:Q89.7 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref ICD10:Q89.7 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref MESH:C535382 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref OMIM:208085 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref OMIM:613404 semapv:UnspecifiedMatching +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome oboInOwl:hasDbXref UMLS:C4551984 semapv:UnspecifiedMatching +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref MESH:C537210 semapv:UnspecifiedMatching +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:149200 semapv:UnspecifiedMatching +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome oboInOwl:hasDbXref UMLS:C0266004 semapv:UnspecifiedMatching +Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref OMIM:151630 semapv:UnspecifiedMatching +Orphanet:2699 Median nodule of the upper lip oboInOwl:hasDbXref UMLS:C1835396 semapv:UnspecifiedMatching +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref MESH:C537573 semapv:UnspecifiedMatching +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref UMLS:C2931536 semapv:UnspecifiedMatching +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MedDRA:10052181 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 semapv:UnspecifiedMatching +Orphanet:270 Oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS:C0270952 semapv:UnspecifiedMatching +Orphanet:2700 Noma oboInOwl:hasDbXref ICD10:A69.0 semapv:UnspecifiedMatching +Orphanet:2700 Noma oboInOwl:hasDbXref MESH:D009625 semapv:UnspecifiedMatching +Orphanet:2700 Noma oboInOwl:hasDbXref MedDRA:10029502 semapv:UnspecifiedMatching +Orphanet:2700 Noma oboInOwl:hasDbXref UMLS:C0028271 semapv:UnspecifiedMatching +Orphanet:2700 Noma oboInOwl:hasDbXref icd11:DA0C.31 semapv:UnspecifiedMatching +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref OMIM:607721 semapv:UnspecifiedMatching +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref OMIM:617506 semapv:UnspecifiedMatching +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref UMLS:C1843181 semapv:UnspecifiedMatching +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching +Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C5191040 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:236730 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:615112 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref UMLS:C0403555 semapv:UnspecifiedMatching +Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref MESH:C537013 semapv:UnspecifiedMatching +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type oboInOwl:hasDbXref UMLS:C1855663 semapv:UnspecifiedMatching +Orphanet:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref MESH:C537732 semapv:UnspecifiedMatching +Orphanet:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref OMIM:180900 semapv:UnspecifiedMatching +Orphanet:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref UMLS:C0796140 semapv:UnspecifiedMatching +Orphanet:2709 Oculodental syndrome, Rutherfurd type oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref MESH:C563160 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref MedDRA:10063691 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:164200 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:257850 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref UMLS:C0812437 semapv:UnspecifiedMatching +Orphanet:2710 Oculodentodigital dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching +Orphanet:2712 Oculofaciocardiodental syndrome oboInOwl:hasDbXref UMLS:C1846265 semapv:UnspecifiedMatching +Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref MESH:C565893 semapv:UnspecifiedMatching +Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref OMIM:211370 semapv:UnspecifiedMatching +Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref UMLS:C1859385 semapv:UnspecifiedMatching +Orphanet:2713 Oculoosteocutaneous syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref MESH:C564935 semapv:UnspecifiedMatching +Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref OMIM:257910 semapv:UnspecifiedMatching +Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref UMLS:C1850338 semapv:UnspecifiedMatching +Orphanet:2714 Oculo-palato-cerebral syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref MESH:C537739 semapv:UnspecifiedMatching +Orphanet:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref OMIM:257970 semapv:UnspecifiedMatching +Orphanet:2715 Severe oculo-renal-cerebellar syndrome oboInOwl:hasDbXref UMLS:C1850331 semapv:UnspecifiedMatching +Orphanet:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref MESH:C536022 semapv:UnspecifiedMatching +Orphanet:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref OMIM:248450 semapv:UnspecifiedMatching +Orphanet:2717 Oculotrichoanal syndrome oboInOwl:hasDbXref UMLS:C1855425 semapv:UnspecifiedMatching +Orphanet:2718 Oculotrichodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2718 Oculotrichodysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2718 Oculotrichodysplasia oboInOwl:hasDbXref MESH:C564934 semapv:UnspecifiedMatching +Orphanet:2718 Oculotrichodysplasia oboInOwl:hasDbXref OMIM:257960 semapv:UnspecifiedMatching +Orphanet:2718 Oculotrichodysplasia oboInOwl:hasDbXref UMLS:C1850332 semapv:UnspecifiedMatching +Orphanet:2718 Oculotrichodysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:271832 Genetic soft tissue tumor oboInOwl:hasDbXref UMLS:C5679760 semapv:UnspecifiedMatching +Orphanet:271835 Genetic digestive tract tumor oboInOwl:hasDbXref UMLS:C5680757 semapv:UnspecifiedMatching +Orphanet:271841 Genetic cardiac tumor oboInOwl:hasDbXref UMLS:C5680756 semapv:UnspecifiedMatching +Orphanet:271844 Genetic urogenital tumor oboInOwl:hasDbXref UMLS:C5680761 semapv:UnspecifiedMatching +Orphanet:271847 Genetic neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5680760 semapv:UnspecifiedMatching +Orphanet:271853 Genetic cardiac anomaly oboInOwl:hasDbXref UMLS:C5680759 semapv:UnspecifiedMatching +Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref UMLS:C5679761 semapv:UnspecifiedMatching +Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching +Orphanet:271870 Rare genetic systemic or rheumatologic disease oboInOwl:hasDbXref UMLS:C5680758 semapv:UnspecifiedMatching +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref OMIM:257800 semapv:UnspecifiedMatching +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref UMLS:C2936910 semapv:UnspecifiedMatching +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching +Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref UMLS:C0410174 semapv:UnspecifiedMatching +Orphanet:272 Congenital muscular dystrophy, Fukuyama type oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref MESH:C537866 semapv:UnspecifiedMatching +Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref OMIM:257790 semapv:UnspecifiedMatching +Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type oboInOwl:hasDbXref UMLS:C2931646 semapv:UnspecifiedMatching +Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref MESH:C537742 semapv:UnspecifiedMatching +Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref OMIM:257980 semapv:UnspecifiedMatching +Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref UMLS:C0796093 semapv:UnspecifiedMatching +Orphanet:2721 Odonto-onycho-dermal dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome oboInOwl:hasDbXref UMLS:C4706599 semapv:UnspecifiedMatching +Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref MESH:C535637 semapv:UnspecifiedMatching +Orphanet:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref OMIM:273400 semapv:UnspecifiedMatching +Orphanet:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref UMLS:C2930960 semapv:UnspecifiedMatching +Orphanet:2723 Odontotrichomelic syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref MESH:C537740 semapv:UnspecifiedMatching +Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref OMIM:164330 semapv:UnspecifiedMatching +Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome oboInOwl:hasDbXref UMLS:C1834013 semapv:UnspecifiedMatching +Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome oboInOwl:hasDbXref OMIM:609465 semapv:UnspecifiedMatching +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref MESH:C536232 semapv:UnspecifiedMatching +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref OMIM:249620 semapv:UnspecifiedMatching +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref UMLS:C0796094 semapv:UnspecifiedMatching +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref MESH:C565736 semapv:UnspecifiedMatching +Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref OMIM:604916 semapv:UnspecifiedMatching +Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching +Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref MESH:C538008 semapv:UnspecifiedMatching +Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching +Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C3250443 semapv:UnspecifiedMatching +Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref MESH:C566767 semapv:UnspecifiedMatching +Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref OMIM:176240 semapv:UnspecifiedMatching +Orphanet:2730 Postaxial tetramelic oligodactyly oboInOwl:hasDbXref UMLS:C1867924 semapv:UnspecifiedMatching +Orphanet:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref MESH:C536945 semapv:UnspecifiedMatching +Orphanet:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref OMIM:272980 semapv:UnspecifiedMatching +Orphanet:2731 Taurodontia-absent teeth-sparse hair syndrome oboInOwl:hasDbXref UMLS:C1848909 semapv:UnspecifiedMatching +Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome oboInOwl:hasDbXref UMLS:C4275113 semapv:UnspecifiedMatching +Orphanet:2733 Omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2733 Omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2733 Omodysplasia oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching +Orphanet:2733 Omodysplasia oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching +Orphanet:2733 Omodysplasia oboInOwl:hasDbXref UMLS:C4510897 semapv:UnspecifiedMatching +Orphanet:2733 Omodysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref MESH:C537747 semapv:UnspecifiedMatching +Orphanet:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref OMIM:258320 semapv:UnspecifiedMatching +Orphanet:2736 Lethal omphalocele-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1850317 semapv:UnspecifiedMatching +Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref ICD10:B73 semapv:UnspecifiedMatching +Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref ICD10:B73 semapv:UnspecifiedMatching +Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref MESH:D009855 semapv:UnspecifiedMatching +Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref MedDRA:10030314 semapv:UnspecifiedMatching +Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref UMLS:C0029001 semapv:UnspecifiedMatching +Orphanet:2737 Onchocerciasis oboInOwl:hasDbXref icd11:1F6A semapv:UnspecifiedMatching +Orphanet:2739 Onycho-tricho-dysplasia-neutropenia syndrome oboInOwl:hasDbXref OMIM:258360 semapv:UnspecifiedMatching +Orphanet:2739 Onycho-tricho-dysplasia-neutropenia syndrome oboInOwl:hasDbXref UMLS:C1850316 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MESH:D001606 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref MedDRA:10057473 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:153670 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:231200 semapv:UnspecifiedMatching +Orphanet:274 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS:C0005129 semapv:UnspecifiedMatching +Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref MESH:C563501 semapv:UnspecifiedMatching +Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref OMIM:164900 semapv:UnspecifiedMatching +Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref UMLS:C1833872 semapv:UnspecifiedMatching +Orphanet:2741 Ophthalmomandibulomelic dysplasia oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref ICD10:H51.2 semapv:UnspecifiedMatching +Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref OMIM:165150 semapv:UnspecifiedMatching +Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome oboInOwl:hasDbXref UMLS:C5190740 semapv:UnspecifiedMatching +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:607313 semapv:UnspecifiedMatching +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref OMIM:617542 semapv:UnspecifiedMatching +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref UMLS:C1846496 semapv:UnspecifiedMatching +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXref icd11:9C83.00 semapv:UnspecifiedMatching +Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref OMIM:300000 semapv:UnspecifiedMatching +Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref MESH:C537122 semapv:UnspecifiedMatching +Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref OMIM:258480 semapv:UnspecifiedMatching +Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref UMLS:C0432219 semapv:UnspecifiedMatching +Orphanet:2749 Oromandibular-limb hypogenesis syndrome oboInOwl:hasDbXref UMLS:C5679764 semapv:UnspecifiedMatching +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref MESH:C536786 semapv:UnspecifiedMatching +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref OMIM:602450 semapv:UnspecifiedMatching +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref UMLS:C1865371 semapv:UnspecifiedMatching +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref MESH:C537134 semapv:UnspecifiedMatching +Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311200 semapv:UnspecifiedMatching +Orphanet:2750 Orofaciodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C1510460 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538585 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MedDRA:10078419 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref OMIM:252100 semapv:UnspecifiedMatching +Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C0026363 semapv:UnspecifiedMatching +Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref MESH:C557817 semapv:UnspecifiedMatching +Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref OMIM:258850 semapv:UnspecifiedMatching +Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref UMLS:C0406726 semapv:UnspecifiedMatching +Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref MESH:C537133 semapv:UnspecifiedMatching +Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref OMIM:258860 semapv:UnspecifiedMatching +Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref UMLS:C0406727 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref MESH:C536531 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:277170 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:614815 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:615665 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:617127 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref OMIM:618763 semapv:UnspecifiedMatching +Orphanet:2754 Orofaciodigital syndrome type 6 oboInOwl:hasDbXref UMLS:C2745997 semapv:UnspecifiedMatching +Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref MESH:C557820 semapv:UnspecifiedMatching +Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref OMIM:300484 semapv:UnspecifiedMatching +Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref UMLS:C0796101 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref UMLS:C1846545 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref MESH:C535950 semapv:UnspecifiedMatching +Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref OMIM:605233 semapv:UnspecifiedMatching +Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref UMLS:C2931071 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:304100 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.1 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.2 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.9 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.9 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref MESH:D011225 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref MedDRA:10036485 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:189800 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609402 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609403 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:609404 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref OMIM:614595 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref UMLS:C0032914 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24.0 semapv:UnspecifiedMatching +Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24.1 semapv:UnspecifiedMatching +Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref MESH:C563491 semapv:UnspecifiedMatching +Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref OMIM:165590 semapv:UnspecifiedMatching +Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref UMLS:C1833796 semapv:UnspecifiedMatching +Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia oboInOwl:hasDbXref UMLS:C5679757 semapv:UnspecifiedMatching +Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect oboInOwl:hasDbXref UMLS:C5679758 semapv:UnspecifiedMatching +Orphanet:275742 Genetic infertility oboInOwl:hasDbXref UMLS:C5680750 semapv:UnspecifiedMatching +Orphanet:275745 Alpha-thalassemia and related disorders oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:275745 Alpha-thalassemia and related disorders oboInOwl:hasDbXref UMLS:C5680751 semapv:UnspecifiedMatching +Orphanet:275749 Beta-thalassemia and related diseases oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:275749 Beta-thalassemia and related diseases oboInOwl:hasDbXref UMLS:C5680748 semapv:UnspecifiedMatching +Orphanet:275752 Sickle cell disease and related diseases oboInOwl:hasDbXref ICD10:D57.0 semapv:UnspecifiedMatching +Orphanet:275752 Sickle cell disease and related diseases oboInOwl:hasDbXref UMLS:C5680749 semapv:UnspecifiedMatching +Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref MedDRA:10077267 semapv:UnspecifiedMatching +Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching +Orphanet:275761 Lysosomal acid lipase deficiency oboInOwl:hasDbXref UMLS:C5574740 semapv:UnspecifiedMatching +Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching +Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching +Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10065151 semapv:UnspecifiedMatching +Orphanet:275766 Idiopathic pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C3203102 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref MedDRA:10085244 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching +Orphanet:275777 Heritable pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C0340543 semapv:UnspecifiedMatching +Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C0340544 semapv:UnspecifiedMatching +Orphanet:275791 Pulmonary arterial hypertension associated with another disease oboInOwl:hasDbXref UMLS:C5679756 semapv:UnspecifiedMatching +Orphanet:275798 Pulmonary arterial hypertension associated with connective tissue disease oboInOwl:hasDbXref UMLS:C3697982 semapv:UnspecifiedMatching +Orphanet:275803 Pulmonary arterial hypertension associated with congenital heart disease oboInOwl:hasDbXref UMLS:C3697119 semapv:UnspecifiedMatching +Orphanet:275808 Pulmonary arterial hypertension associated with HIV infection oboInOwl:hasDbXref UMLS:C3697673 semapv:UnspecifiedMatching +Orphanet:275813 Pulmonary arterial hypertension associated with portal hypertension oboInOwl:hasDbXref MedDRA:10067281 semapv:UnspecifiedMatching +Orphanet:275813 Pulmonary arterial hypertension associated with portal hypertension oboInOwl:hasDbXref UMLS:C1868851 semapv:UnspecifiedMatching +Orphanet:275823 Pulmonary arterial hypertension associated with schistosomiasis oboInOwl:hasDbXref UMLS:C3697477 semapv:UnspecifiedMatching +Orphanet:275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia oboInOwl:hasDbXref UMLS:C3698315 semapv:UnspecifiedMatching +Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism oboInOwl:hasDbXref UMLS:C4509216 semapv:UnspecifiedMatching +Orphanet:275853 Syndrome with pulmonary hypertension as a major feature oboInOwl:hasDbXref UMLS:C5680755 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref OMIM:619132 semapv:UnspecifiedMatching +Orphanet:275864 Behavioral variant of frontotemporal dementia oboInOwl:hasDbXref UMLS:C4011788 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref MESH:C566288 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:105550 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:608030 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:612069 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:615911 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:616439 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref OMIM:619141 semapv:UnspecifiedMatching +Orphanet:275872 Frontotemporal dementia with motor neuron disease oboInOwl:hasDbXref UMLS:C3888102 semapv:UnspecifiedMatching +Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C4749770 semapv:UnspecifiedMatching +Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization oboInOwl:hasDbXref ICD10:P55.8 semapv:UnspecifiedMatching +Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization oboInOwl:hasDbXref ICD10:P55.8 semapv:UnspecifiedMatching +Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization oboInOwl:hasDbXref UMLS:C0472751 semapv:UnspecifiedMatching +Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref OMIM:300400 semapv:UnspecifiedMatching +Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref UMLS:C4707334 semapv:UnspecifiedMatching +Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:2760 OSLAM syndrome oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching +Orphanet:2760 OSLAM syndrome oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching +Orphanet:2760 OSLAM syndrome oboInOwl:hasDbXref MESH:C537138 semapv:UnspecifiedMatching +Orphanet:2760 OSLAM syndrome oboInOwl:hasDbXref OMIM:165660 semapv:UnspecifiedMatching +Orphanet:2760 OSLAM syndrome oboInOwl:hasDbXref UMLS:C1833792 semapv:UnspecifiedMatching +Orphanet:276058 Genetic neurodegenerative disease with dementia oboInOwl:hasDbXref UMLS:C5680753 semapv:UnspecifiedMatching +Orphanet:276061 Genetic frontotemporal degeneration with dementia oboInOwl:hasDbXref UMLS:C5680752 semapv:UnspecifiedMatching +Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation oboInOwl:hasDbXref UMLS:C4274079 semapv:UnspecifiedMatching +Orphanet:276142 Rare tumor of salivary glands oboInOwl:hasDbXref UMLS:C5680754 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.0 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.0 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.1 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.1 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching +Orphanet:276145 Malignant epithelial tumor of salivary glands oboInOwl:hasDbXref UMLS:C5190832 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.7 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref ICD10:D11.7 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref UMLS:C5190858 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref icd11:2E91 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref icd11:2E91.0 semapv:UnspecifiedMatching +Orphanet:276148 Benign epithelial tumor of salivary glands oboInOwl:hasDbXref icd11:2E91.1 semapv:UnspecifiedMatching +Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref MESH:C567059 semapv:UnspecifiedMatching +Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref OMIM:610755 semapv:UnspecifiedMatching +Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref UMLS:C1970712 semapv:UnspecifiedMatching +Orphanet:276152 Multiple endocrine neoplasia type 4 oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref MESH:D009377 semapv:UnspecifiedMatching +Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref MedDRA:10061299 semapv:UnspecifiedMatching +Orphanet:276161 Multiple endocrine neoplasia oboInOwl:hasDbXref UMLS:C0027662 semapv:UnspecifiedMatching +Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:276174 Idiopathic recurrent stupor oboInOwl:hasDbXref UMLS:C4706562 semapv:UnspecifiedMatching +Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref OMIM:613909 semapv:UnspecifiedMatching +Orphanet:276183 Spinocerebellar ataxia type 32 oboInOwl:hasDbXref UMLS:C3151343 semapv:UnspecifiedMatching +Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref OMIM:613908 semapv:UnspecifiedMatching +Orphanet:276193 Spinocerebellar ataxia type 35 oboInOwl:hasDbXref UMLS:C3888031 semapv:UnspecifiedMatching +Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref OMIM:614153 semapv:UnspecifiedMatching +Orphanet:276198 Spinocerebellar ataxia type 36 oboInOwl:hasDbXref UMLS:C3472711 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref ICD10:M61.5 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref ICD10:M61.5 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref MESH:C562735 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref MedDRA:10048902 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref UMLS:C0334041 semapv:UnspecifiedMatching +Orphanet:2762 Progressive osseous heteroplasia oboInOwl:hasDbXref icd11:FB31.0 semapv:UnspecifiedMatching +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref UMLS:C5679781 semapv:UnspecifiedMatching +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing oboInOwl:hasDbXref icd11:5C56.33 semapv:UnspecifiedMatching +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref UMLS:C5679780 semapv:UnspecifiedMatching +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing oboInOwl:hasDbXref icd11:5C56.33 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:606766 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:612997 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:614822 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617576 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617592 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617593 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617959 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:617965 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618152 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618153 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618429 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618433 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618643 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618664 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618670 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618745 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref OMIM:618751 semapv:UnspecifiedMatching +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder oboInOwl:hasDbXref UMLS:C0403811 semapv:UnspecifiedMatching +Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching +Orphanet:276238 Machado-Joseph disease type 1 oboInOwl:hasDbXref UMLS:C0751668 semapv:UnspecifiedMatching +Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching +Orphanet:276241 Machado-Joseph disease type 2 oboInOwl:hasDbXref UMLS:C0751669 semapv:UnspecifiedMatching +Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching +Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref UMLS:C0751670 semapv:UnspecifiedMatching +Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref UMLS:C4749904 semapv:UnspecifiedMatching +Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref MESH:C537291 semapv:UnspecifiedMatching +Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref OMIM:602361 semapv:UnspecifiedMatching +Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref UMLS:C1865639 semapv:UnspecifiedMatching +Orphanet:2763 Osteocraniostenosis oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:276399 Familial multinodular goiter oboInOwl:hasDbXref ICD10:E04.2 semapv:UnspecifiedMatching +Orphanet:276399 Familial multinodular goiter oboInOwl:hasDbXref ICD10:E04.2 semapv:UnspecifiedMatching +Orphanet:276399 Familial multinodular goiter oboInOwl:hasDbXref OMIM:138800 semapv:UnspecifiedMatching +Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:UnspecifiedMatching +Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MedDRA:10031231 semapv:UnspecifiedMatching +Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 semapv:UnspecifiedMatching +Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref OMIM:614156 semapv:UnspecifiedMatching +Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref UMLS:C3279964 semapv:UnspecifiedMatching +Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching +Orphanet:276413 10q22.3q23.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749270 semapv:UnspecifiedMatching +Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C5190512 semapv:UnspecifiedMatching +Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching +Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching +Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching +Orphanet:276429 Hypnic headache oboInOwl:hasDbXref UMLS:C0752150 semapv:UnspecifiedMatching +Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref MedDRA:10082376 semapv:UnspecifiedMatching +Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref OMIM:300855 semapv:UnspecifiedMatching +Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref UMLS:C3275447 semapv:UnspecifiedMatching +Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref OMIM:615048 semapv:UnspecifiedMatching +Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref UMLS:C5191007 semapv:UnspecifiedMatching +Orphanet:276435 Lower motor neuron syndrome with late-adult onset oboInOwl:hasDbXref icd11:8B60.Y semapv:UnspecifiedMatching +Orphanet:276556 Hyperinsulinism due to UCP2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276556 Hyperinsulinism due to UCP2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276556 Hyperinsulinism due to UCP2 deficiency oboInOwl:hasDbXref UMLS:C4303082 semapv:UnspecifiedMatching +Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching +Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref UMLS:C4274080 semapv:UnspecifiedMatching +Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching +Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref UMLS:C4274081 semapv:UnspecifiedMatching +Orphanet:276585 Diazoxide-resistant hyperinsulinism oboInOwl:hasDbXref UMLS:C5679778 semapv:UnspecifiedMatching +Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching +Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref UMLS:C5191059 semapv:UnspecifiedMatching +Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching +Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref UMLS:C5191060 semapv:UnspecifiedMatching +Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching +Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma oboInOwl:hasDbXref UMLS:C4707333 semapv:UnspecifiedMatching +Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref OMIM:300844 semapv:UnspecifiedMatching +Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers oboInOwl:hasDbXref UMLS:C5680787 semapv:UnspecifiedMatching +Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching +Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref MESH:C565076 semapv:UnspecifiedMatching +Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref OMIM:127820 semapv:UnspecifiedMatching +Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref UMLS:C1851956 semapv:UnspecifiedMatching +Orphanet:2767 Carpotarsal osteochondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref ICD10:M92.5 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref ICD10:M92.5 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref MESH:C536237 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref MedDRA:10072255 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref OMIM:188700 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref OMIM:259200 semapv:UnspecifiedMatching +Orphanet:2768 Blount disease oboInOwl:hasDbXref UMLS:C0220757 semapv:UnspecifiedMatching +Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref MESH:C564923 semapv:UnspecifiedMatching +Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref OMIM:259250 semapv:UnspecifiedMatching +Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref UMLS:C1850186 semapv:UnspecifiedMatching +Orphanet:2769 Familial osteodysplasia, Anderson type oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref ICD10:D81.3 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref ICD10:D81.3 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MESH:C531816 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref MedDRA:10066367 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref OMIM:102700 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref UMLS:C0392607 semapv:UnspecifiedMatching +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref MESH:C536329 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:221770 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:618193 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref UMLS:C1857316 semapv:UnspecifiedMatching +Orphanet:2770 Nasu-Hakola disease oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref ICD10:M21.8 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref MedDRA:10063718 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref OMIM:609220 semapv:UnspecifiedMatching +Orphanet:2771 Bruck syndrome oboInOwl:hasDbXref UMLS:C0432253 semapv:UnspecifiedMatching +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref MESH:C537558 semapv:UnspecifiedMatching +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref OMIM:259410 semapv:UnspecifiedMatching +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome oboInOwl:hasDbXref UMLS:C1850184 semapv:UnspecifiedMatching +Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4302824 semapv:UnspecifiedMatching +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref MESH:C567171 semapv:UnspecifiedMatching +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref OMIM:166300 semapv:UnspecifiedMatching +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref UMLS:C2674705 semapv:UnspecifiedMatching +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref MESH:C536052 semapv:UnspecifiedMatching +Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref OMIM:259610 semapv:UnspecifiedMatching +Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref UMLS:C1850143 semapv:UnspecifiedMatching +Orphanet:2776 Autosomal recessive distal osteolysis syndrome oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref MESH:C537792 semapv:UnspecifiedMatching +Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref OMIM:166450 semapv:UnspecifiedMatching +Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref UMLS:C0432264 semapv:UnspecifiedMatching +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref MESH:C536054 semapv:UnspecifiedMatching +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref UMLS:C2931096 semapv:UnspecifiedMatching +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref MESH:C536053 semapv:UnspecifiedMatching +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref UMLS:C0432268 semapv:UnspecifiedMatching +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching +Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref MedDRA:10031280 semapv:UnspecifiedMatching +Orphanet:2781 Osteopetrosis and related disorders oboInOwl:hasDbXref UMLS:C5680905 semapv:UnspecifiedMatching +Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref MESH:C536056 semapv:UnspecifiedMatching +Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref OMIM:607634 semapv:UnspecifiedMatching +Orphanet:2783 Autosomal dominant osteopetrosis type 1 oboInOwl:hasDbXref UMLS:C1843330 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref MESH:C536058 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:259730 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching +Orphanet:2785 Osteopetrosis with renal tubular acidosis oboInOwl:hasDbXref UMLS:C0345407 semapv:UnspecifiedMatching +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref MESH:C536062 semapv:UnspecifiedMatching +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref OMIM:601220 semapv:UnspecifiedMatching +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome oboInOwl:hasDbXref UMLS:C1832592 semapv:UnspecifiedMatching +Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome oboInOwl:hasDbXref UMLS:C4274786 semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MedDRA:10052452 semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching +Orphanet:2788 Osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS:C0432252 semapv:UnspecifiedMatching +Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref MESH:C537878 semapv:UnspecifiedMatching +Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching +Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref UMLS:C1851710 semapv:UnspecifiedMatching +Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref MESH:C536748 semapv:UnspecifiedMatching +Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching +Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref UMLS:C0432273 semapv:UnspecifiedMatching +Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref MESH:C563482 semapv:UnspecifiedMatching +Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:UnspecifiedMatching +Orphanet:2791 Otodental syndrome oboInOwl:hasDbXref UMLS:C1833693 semapv:UnspecifiedMatching +Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref MESH:C563481 semapv:UnspecifiedMatching +Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref OMIM:166780 semapv:UnspecifiedMatching +Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref OMIM:615560 semapv:UnspecifiedMatching +Orphanet:2792 Otofaciocervical syndrome oboInOwl:hasDbXref UMLS:C1833691 semapv:UnspecifiedMatching +Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref MESH:C564912 semapv:UnspecifiedMatching +Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref OMIM:259780 semapv:UnspecifiedMatching +Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref UMLS:C1850105 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.1 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.2 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching +Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching +Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref ICD10:N39.8 semapv:UnspecifiedMatching +Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref ICD10:N39.8 semapv:UnspecifiedMatching +Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref MESH:C537271 semapv:UnspecifiedMatching +Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref UMLS:C2931462 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref MedDRA:10051686 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:167100 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref OMIM:614441 semapv:UnspecifiedMatching +Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref UMLS:C0029411 semapv:UnspecifiedMatching +Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref MESH:C538091 semapv:UnspecifiedMatching +Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:600176 semapv:UnspecifiedMatching +Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref UMLS:C1838491 semapv:UnspecifiedMatching +Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref ICD10:F98.4 semapv:UnspecifiedMatching +Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref ICD10:F98.4 semapv:UnspecifiedMatching +Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref MedDRA:10059593 semapv:UnspecifiedMatching +Orphanet:279882 Spasmus nutans oboInOwl:hasDbXref UMLS:C1527306 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref MedDRA:10000730 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref UMLS:C0154773 semapv:UnspecifiedMatching +Orphanet:279888 Acute endophthalmitis oboInOwl:hasDbXref icd11:9C20.2 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.0 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref MedDRA:10008864 semapv:UnspecifiedMatching +Orphanet:279891 Chronic endophthalmitis oboInOwl:hasDbXref UMLS:C0154774 semapv:UnspecifiedMatching +Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:T37.2 semapv:UnspecifiedMatching +Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref ICD10:T37.2 semapv:UnspecifiedMatching +Orphanet:279894 Toxic maculopathy due to antimalarial drugs oboInOwl:hasDbXref UMLS:C4706522 semapv:UnspecifiedMatching +Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:279897 Primary oculocerebral lymphoma oboInOwl:hasDbXref UMLS:C5679779 semapv:UnspecifiedMatching +Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref MESH:D064090 semapv:UnspecifiedMatching +Orphanet:279904 Primary intraocular lymphoma oboInOwl:hasDbXref UMLS:C0281658 semapv:UnspecifiedMatching +Orphanet:279911 Primary organ-specific lymphoma oboInOwl:hasDbXref UMLS:C5680788 semapv:UnspecifiedMatching +Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref ICD10:H30.2 semapv:UnspecifiedMatching +Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref MESH:D015867 semapv:UnspecifiedMatching +Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref MedDRA:10022557 semapv:UnspecifiedMatching +Orphanet:279914 Intermediate uveitis oboInOwl:hasDbXref UMLS:C0042166 semapv:UnspecifiedMatching +Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref ICD10:H32.0 semapv:UnspecifiedMatching +Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref UMLS:C5230265 semapv:UnspecifiedMatching +Orphanet:279919 Infectious posterior uveitis oboInOwl:hasDbXref icd11:9B65.1 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching +Orphanet:279922 Infectious anterior uveitis oboInOwl:hasDbXref UMLS:C0154911 semapv:UnspecifiedMatching +Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref UMLS:C5230354 semapv:UnspecifiedMatching +Orphanet:279925 Infectious panuveitis oboInOwl:hasDbXref icd11:9C20.1 semapv:UnspecifiedMatching +Orphanet:279928 Paraneoplastic uveitis oboInOwl:hasDbXref ICD10:H57.8 semapv:UnspecifiedMatching +Orphanet:279928 Paraneoplastic uveitis oboInOwl:hasDbXref UMLS:C5680786 semapv:UnspecifiedMatching +Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref OMIM:251880 semapv:UnspecifiedMatching +Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency oboInOwl:hasDbXref UMLS:C5191055 semapv:UnspecifiedMatching +Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref MESH:C563010 semapv:UnspecifiedMatching +Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 semapv:UnspecifiedMatching +Orphanet:279943 Hereditary neutrophilia oboInOwl:hasDbXref UMLS:C0543669 semapv:UnspecifiedMatching +Orphanet:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref ICD10:F52.3 semapv:UnspecifiedMatching +Orphanet:279947 Postorgasmic illness syndrome oboInOwl:hasDbXref UMLS:C4749582 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref UMLS:C0342720 semapv:UnspecifiedMatching +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MESH:D054877 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MedDRA:10050361 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching +Orphanet:280 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C1956097 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref ICD10:C44.5 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref ICD10:C44.5 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MESH:D010145 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref MedDRA:10068223 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref OMIM:167300 semapv:UnspecifiedMatching +Orphanet:2800 Extramammary Paget disease oboInOwl:hasDbXref UMLS:C0030186 semapv:UnspecifiedMatching +Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref MESH:D002115 semapv:UnspecifiedMatching +Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref MedDRA:10051714 semapv:UnspecifiedMatching +Orphanet:280062 Calciphylaxis oboInOwl:hasDbXref UMLS:C0006666 semapv:UnspecifiedMatching +Orphanet:280065 Calciphylaxis cutis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:280065 Calciphylaxis cutis oboInOwl:hasDbXref UMLS:C4274083 semapv:UnspecifiedMatching +Orphanet:280068 Visceral calciphylaxis oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:280068 Visceral calciphylaxis oboInOwl:hasDbXref UMLS:C4749793 semapv:UnspecifiedMatching +Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref OMIM:613661 semapv:UnspecifiedMatching +Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref UMLS:C3150913 semapv:UnspecifiedMatching +Orphanet:280071 ALG11-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref ICD10:M88.9 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref MESH:C537701 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref OMIM:239000 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref UMLS:C0268414 semapv:UnspecifiedMatching +Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref icd11:FB85.0 semapv:UnspecifiedMatching +Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching +Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching +Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching +Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 semapv:UnspecifiedMatching +Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref UMLS:C1332655 semapv:UnspecifiedMatching +Orphanet:280133 Complement component 3 deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref OMIM:615758 semapv:UnspecifiedMatching +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref UMLS:C5191006 semapv:UnspecifiedMatching +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref OMIM:613646 semapv:UnspecifiedMatching +Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect oboInOwl:hasDbXref UMLS:C4749905 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref UMLS:C5679777 semapv:UnspecifiedMatching +Orphanet:280195 Septopreoptic holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref MESH:C536358 semapv:UnspecifiedMatching +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref OMIM:301310 semapv:UnspecifiedMatching +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1845028 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref UMLS:C5393309 semapv:UnspecifiedMatching +Orphanet:280200 Microform holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:280205 Laryngotracheoesophageal cleft type 0 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:280205 Laryngotracheoesophageal cleft type 0 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching +Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref UMLS:C5679776 semapv:UnspecifiedMatching +Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching +Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref UMLS:C0751916 semapv:UnspecifiedMatching +Orphanet:280219 Pelizaeus-Merzbacher disease, classic form oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching +Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref UMLS:C0751917 semapv:UnspecifiedMatching +Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching +Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching +Orphanet:280234 Null syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280234 Null syndrome oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280234 Null syndrome oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching +Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref UMLS:C4274084 semapv:UnspecifiedMatching +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref MESH:C563855 semapv:UnspecifiedMatching +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation oboInOwl:hasDbXref UMLS:C1837355 semapv:UnspecifiedMatching +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref MESH:C567390 semapv:UnspecifiedMatching +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching +Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref icd11:DC33 semapv:UnspecifiedMatching +Orphanet:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref UMLS:C5197785 semapv:UnspecifiedMatching +Orphanet:280325 Distal deletion 12p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:280325 Distal deletion 12p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:280325 Distal deletion 12p oboInOwl:hasDbXref UMLS:C4749581 semapv:UnspecifiedMatching +Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref OMIM:613818 semapv:UnspecifiedMatching +Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 oboInOwl:hasDbXref UMLS:C4511963 semapv:UnspecifiedMatching +Orphanet:280342 Rare systemic or rheumatological disease of childhood oboInOwl:hasDbXref UMLS:C5680785 semapv:UnspecifiedMatching +Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:613877 semapv:UnspecifiedMatching +Orphanet:280356 PLIN1-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C5191005 semapv:UnspecifiedMatching +Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy oboInOwl:hasDbXref UMLS:C5680783 semapv:UnspecifiedMatching +Orphanet:280369 Rare pediatric vasculitis oboInOwl:hasDbXref UMLS:C5680782 semapv:UnspecifiedMatching +Orphanet:280373 Rare pediatric systemic disease oboInOwl:hasDbXref UMLS:C5680784 semapv:UnspecifiedMatching +Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref UMLS:C5191004 semapv:UnspecifiedMatching +Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oboInOwl:hasDbXref UMLS:C4749580 semapv:UnspecifiedMatching +Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:280397 Familial Alzheimer-like prion disease oboInOwl:hasDbXref UMLS:C4303482 semapv:UnspecifiedMatching +Orphanet:2804 W syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2804 W syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2804 W syndrome oboInOwl:hasDbXref MESH:C538106 semapv:UnspecifiedMatching +Orphanet:2804 W syndrome oboInOwl:hasDbXref MedDRA:10084236 semapv:UnspecifiedMatching +Orphanet:2804 W syndrome oboInOwl:hasDbXref OMIM:311450 semapv:UnspecifiedMatching +Orphanet:2804 W syndrome oboInOwl:hasDbXref UMLS:C0796110 semapv:UnspecifiedMatching +Orphanet:280400 Inherited human prion disease oboInOwl:hasDbXref UMLS:C5679775 semapv:UnspecifiedMatching +Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching +Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism oboInOwl:hasDbXref UMLS:C4749579 semapv:UnspecifiedMatching +Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref OMIM:614650 semapv:UnspecifiedMatching +Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness oboInOwl:hasDbXref UMLS:C5191003 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref ICD10:Q45.0 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:167755 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref OMIM:615935 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref UMLS:C4305001 semapv:UnspecifiedMatching +Orphanet:2805 Partial pancreatic agenesis oboInOwl:hasDbXref icd11:LB21.4 semapv:UnspecifiedMatching +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref OMIM:613869 semapv:UnspecifiedMatching +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref UMLS:C5190691 semapv:UnspecifiedMatching +Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref OMIM:613398 semapv:UnspecifiedMatching +Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref UMLS:C3150658 semapv:UnspecifiedMatching +Orphanet:280558 Warsaw breakage syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:280576 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:280576 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:280576 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref OMIM:614008 semapv:UnspecifiedMatching +Orphanet:280576 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref UMLS:C3151446 semapv:UnspecifiedMatching +Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref OMIM:614078 semapv:UnspecifiedMatching +Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type oboInOwl:hasDbXref UMLS:C3279757 semapv:UnspecifiedMatching +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref OMIM:608895 semapv:UnspecifiedMatching +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref UMLS:C5190690 semapv:UnspecifiedMatching +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref ICD10:A81.1 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref ICD10:A81.1 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref MESH:D013344 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref MedDRA:10042297 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching +Orphanet:2806 Subacute sclerosing leukoencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching +Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref OMIM:613977 semapv:UnspecifiedMatching +Orphanet:280615 Hemoglobinopathy Toms River oboInOwl:hasDbXref UMLS:C5190689 semapv:UnspecifiedMatching +Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref OMIM:614018 semapv:UnspecifiedMatching +Orphanet:280620 Progressive myoclonic epilepsy type 6 oboInOwl:hasDbXref UMLS:C5190805 semapv:UnspecifiedMatching +Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching +Orphanet:280628 Familial progressive hyper- and hypopigmentation oboInOwl:hasDbXref UMLS:C4706423 semapv:UnspecifiedMatching +Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref OMIM:614080 semapv:UnspecifiedMatching +Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref UMLS:C5191419 semapv:UnspecifiedMatching +Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref OMIM:614115 semapv:UnspecifiedMatching +Orphanet:280640 Occipital pachygyria and polymicrogyria oboInOwl:hasDbXref UMLS:C5190688 semapv:UnspecifiedMatching +Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching +Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching +Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref UMLS:C5190687 semapv:UnspecifiedMatching +Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching +Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref MESH:C566527 semapv:UnspecifiedMatching +Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref OMIM:602541 semapv:UnspecifiedMatching +Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C1865233 semapv:UnspecifiedMatching +Orphanet:280671 Megaconial congenital muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:300845 semapv:UnspecifiedMatching +Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4518329 semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MESH:D020288 semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref MedDRA:10008777 semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref UMLS:C0205770 semapv:UnspecifiedMatching +Orphanet:2807 Papilloma of choroid plexus oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:612936 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:613744 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614066 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref OMIM:614067 semapv:UnspecifiedMatching +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia oboInOwl:hasDbXref UMLS:C4755264 semapv:UnspecifiedMatching +Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref MESH:C562998 semapv:UnspecifiedMatching +Orphanet:280774 Generalized essential telangiectasia oboInOwl:hasDbXref UMLS:C0473555 semapv:UnspecifiedMatching +Orphanet:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:280779 Cutaneous collagenous vasculopathy oboInOwl:hasDbXref UMLS:C4305323 semapv:UnspecifiedMatching +Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:280785 Bullous diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C5546764 semapv:UnspecifiedMatching +Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C5679949 semapv:UnspecifiedMatching +Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref MESH:C536354 semapv:UnspecifiedMatching +Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref OMIM:150260 semapv:UnspecifiedMatching +Orphanet:2808 Laryngeal abductor paralysis oboInOwl:hasDbXref UMLS:C0396059 semapv:UnspecifiedMatching +Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref UMLS:C5679950 semapv:UnspecifiedMatching +Orphanet:280802 Intralobar congenital pulmonary sequestration oboInOwl:hasDbXref icd11:LA75.6 semapv:UnspecifiedMatching +Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref UMLS:C5679951 semapv:UnspecifiedMatching +Orphanet:280811 Extralobar congenital pulmonary sequestration oboInOwl:hasDbXref icd11:LA75.6 semapv:UnspecifiedMatching +Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:280827 Congenital pulmonary airway malformation type 0 oboInOwl:hasDbXref UMLS:C5437764 semapv:UnspecifiedMatching +Orphanet:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:280832 Congenital pulmonary airway malformation type 1 oboInOwl:hasDbXref UMLS:C5437763 semapv:UnspecifiedMatching +Orphanet:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:280840 Congenital pulmonary airway malformation type 2 oboInOwl:hasDbXref UMLS:C5437761 semapv:UnspecifiedMatching +Orphanet:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:280847 Congenital pulmonary airway malformation type 3 oboInOwl:hasDbXref UMLS:C5437762 semapv:UnspecifiedMatching +Orphanet:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref ICD10:Q33.0 semapv:UnspecifiedMatching +Orphanet:280854 Congenital pulmonary airway malformation type 4 oboInOwl:hasDbXref UMLS:C5437760 semapv:UnspecifiedMatching +Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref MESH:D014606 semapv:UnspecifiedMatching +Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref MedDRA:10002709 semapv:UnspecifiedMatching +Orphanet:280886 Anterior uveitis oboInOwl:hasDbXref UMLS:C0042165 semapv:UnspecifiedMatching +Orphanet:280892 Posterior uveitis oboInOwl:hasDbXref MESH:D015866 semapv:UnspecifiedMatching +Orphanet:280892 Posterior uveitis oboInOwl:hasDbXref MedDRA:10036370 semapv:UnspecifiedMatching +Orphanet:280892 Posterior uveitis oboInOwl:hasDbXref UMLS:C0042167 semapv:UnspecifiedMatching +Orphanet:280898 Panuveitis oboInOwl:hasDbXref MESH:D015864 semapv:UnspecifiedMatching +Orphanet:280898 Panuveitis oboInOwl:hasDbXref MedDRA:10033687 semapv:UnspecifiedMatching +Orphanet:280898 Panuveitis oboInOwl:hasDbXref UMLS:C0030343 semapv:UnspecifiedMatching +Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching +Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref MESH:C565028 semapv:UnspecifiedMatching +Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref OMIM:134200 semapv:UnspecifiedMatching +Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref UMLS:C1851399 semapv:UnspecifiedMatching +Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref icd11:8B88.0 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching +Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref ICD10:H30.9 semapv:UnspecifiedMatching +Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref ICD10:H30.9 semapv:UnspecifiedMatching +Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref UMLS:C4751435 semapv:UnspecifiedMatching +Orphanet:280921 Idiopathic panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:280921 Idiopathic panuveitis oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:280921 Idiopathic panuveitis oboInOwl:hasDbXref UMLS:C4707884 semapv:UnspecifiedMatching +Orphanet:280926 Systemic diseases with anterior uveitis oboInOwl:hasDbXref UMLS:C5681018 semapv:UnspecifiedMatching +Orphanet:280930 Systemic diseases with posterior uveitis oboInOwl:hasDbXref UMLS:C5681022 semapv:UnspecifiedMatching +Orphanet:280933 Systemic diseases with panuveitis oboInOwl:hasDbXref UMLS:C5681021 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref ICD10:Q93.4 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref ICD10:Q93.4 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref MedDRA:10011385 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref OMIM:123450 semapv:UnspecifiedMatching +Orphanet:281 Monosomy 5p oboInOwl:hasDbXref UMLS:C0010314 semapv:UnspecifiedMatching +Orphanet:2810 NON RARE IN EUROPE: Idiopathic facial palsy oboInOwl:hasDbXref ICD10:G51.0 semapv:UnspecifiedMatching +Orphanet:281082 Inherited non-syndromic ichthyosis oboInOwl:hasDbXref UMLS:C5681020 semapv:UnspecifiedMatching +Orphanet:281082 Inherited non-syndromic ichthyosis oboInOwl:hasDbXref icd11:EC20.0 semapv:UnspecifiedMatching +Orphanet:281085 Inherited ichthyosis syndromic form oboInOwl:hasDbXref UMLS:C5681019 semapv:UnspecifiedMatching +Orphanet:281085 Inherited ichthyosis syndromic form oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching +Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching +Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching +Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C4274085 semapv:UnspecifiedMatching +Orphanet:281103 Keratinopathic ichthyosis oboInOwl:hasDbXref UMLS:C4511307 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref MESH:C565473 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching +Orphanet:281122 Self-improving collodion baby oboInOwl:hasDbXref UMLS:C1855789 semapv:UnspecifiedMatching +Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching +Orphanet:281127 Acral self-healing collodion baby oboInOwl:hasDbXref UMLS:C4305324 semapv:UnspecifiedMatching +Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching +Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching +Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 semapv:UnspecifiedMatching +Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:620148 semapv:UnspecifiedMatching +Orphanet:281139 Annular epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C1843463 semapv:UnspecifiedMatching +Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:609165 semapv:UnspecifiedMatching +Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C3665704 semapv:UnspecifiedMatching +Orphanet:281190 Congenital reticular ichthyosiform erythroderma oboInOwl:hasDbXref icd11:EC20.0Y semapv:UnspecifiedMatching +Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref ICD10:L91.8 semapv:UnspecifiedMatching +Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref ICD10:L91.8 semapv:UnspecifiedMatching +Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref MESH:C564905 semapv:UnspecifiedMatching +Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref OMIM:260530 semapv:UnspecifiedMatching +Orphanet:2812 Parana hard skin syndrome oboInOwl:hasDbXref UMLS:C1850079 semapv:UnspecifiedMatching +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref MESH:C566600 semapv:UnspecifiedMatching +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref OMIM:601952 semapv:UnspecifiedMatching +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref UMLS:C1866029 semapv:UnspecifiedMatching +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome oboInOwl:hasDbXref icd11:EC20.0Y semapv:UnspecifiedMatching +Orphanet:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching +Orphanet:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching +Orphanet:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref MedDRA:10048063 semapv:UnspecifiedMatching +Orphanet:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref UMLS:C0079588 semapv:UnspecifiedMatching +Orphanet:281210 X-linked ichthyosis syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:281217 Autosomal ichthyosis syndrome oboInOwl:hasDbXref UMLS:C5681023 semapv:UnspecifiedMatching +Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities oboInOwl:hasDbXref UMLS:C5681027 semapv:UnspecifiedMatching +Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs oboInOwl:hasDbXref UMLS:C5681025 semapv:UnspecifiedMatching +Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course oboInOwl:hasDbXref UMLS:C5681026 semapv:UnspecifiedMatching +Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs oboInOwl:hasDbXref UMLS:C5681024 semapv:UnspecifiedMatching +Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref MESH:C536692 semapv:UnspecifiedMatching +Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref OMIM:312910 semapv:UnspecifiedMatching +Orphanet:2815 Spastic paraparesis-deafness syndrome oboInOwl:hasDbXref UMLS:C2931291 semapv:UnspecifiedMatching +Orphanet:2816 Spastic paraplegia-epilepsy-intellectual disability syndrome oboInOwl:hasDbXref OMIM:182610 semapv:UnspecifiedMatching +Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270850 semapv:UnspecifiedMatching +Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4518786 semapv:UnspecifiedMatching +Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome oboInOwl:hasDbXref MESH:C537797 semapv:UnspecifiedMatching +Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome oboInOwl:hasDbXref UMLS:C2931617 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref MESH:D057180 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref MedDRA:10068968 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching +Orphanet:282 Frontotemporal dementia oboInOwl:hasDbXref UMLS:C0338451 semapv:UnspecifiedMatching +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref MESH:C537937 semapv:UnspecifiedMatching +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref OMIM:182690 semapv:UnspecifiedMatching +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome oboInOwl:hasDbXref UMLS:C2931667 semapv:UnspecifiedMatching +Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref MESH:C536870 semapv:UnspecifiedMatching +Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref OMIM:182815 semapv:UnspecifiedMatching +Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome oboInOwl:hasDbXref UMLS:C4706448 semapv:UnspecifiedMatching +Orphanet:282124 Partial deletion of chromosome 12 oboInOwl:hasDbXref UMLS:C5680422 semapv:UnspecifiedMatching +Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching +Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0751254 semapv:UnspecifiedMatching +Orphanet:282166 Inherited Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E02.0 semapv:UnspecifiedMatching +Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref MESH:D016884 semapv:UnspecifiedMatching +Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref UMLS:C0085409 semapv:UnspecifiedMatching +Orphanet:282196 Autoimmune polyendocrinopathy oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref MESH:C538335 semapv:UnspecifiedMatching +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref OMIM:604360 semapv:UnspecifiedMatching +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 oboInOwl:hasDbXref UMLS:C2931821 semapv:UnspecifiedMatching +Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching +Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref MESH:C537058 semapv:UnspecifiedMatching +Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref OMIM:309560 semapv:UnspecifiedMatching +Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome oboInOwl:hasDbXref UMLS:C2745996 semapv:UnspecifiedMatching +Orphanet:2825 PARC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2825 PARC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2825 PARC syndrome oboInOwl:hasDbXref MESH:C537174 semapv:UnspecifiedMatching +Orphanet:2825 PARC syndrome oboInOwl:hasDbXref OMIM:600331 semapv:UnspecifiedMatching +Orphanet:2825 PARC syndrome oboInOwl:hasDbXref UMLS:C1838256 semapv:UnspecifiedMatching +Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref MESH:C536874 semapv:UnspecifiedMatching +Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref OMIM:182820 semapv:UnspecifiedMatching +Orphanet:2826 Spastic paraplegia-precocious puberty syndrome oboInOwl:hasDbXref UMLS:C4518543 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:300557 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:600116 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:602404 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:605909 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:606324 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:606852 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:610297 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:613643 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:616840 semapv:UnspecifiedMatching +Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref UMLS:C4275179 semapv:UnspecifiedMatching +Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref MESH:C536299 semapv:UnspecifiedMatching +Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref OMIM:260555 semapv:UnspecifiedMatching +Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref UMLS:C1850075 semapv:UnspecifiedMatching +Orphanet:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 semapv:UnspecifiedMatching +Orphanet:283 Demodicidosis oboInOwl:hasDbXref UMLS:C0392666 semapv:UnspecifiedMatching +Orphanet:283 Demodicidosis oboInOwl:hasDbXref icd11:1G07.0 semapv:UnspecifiedMatching +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref MESH:C537609 semapv:UnspecifiedMatching +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref OMIM:601438 semapv:UnspecifiedMatching +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref UMLS:C1832359 semapv:UnspecifiedMatching +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref MESH:C537036 semapv:UnspecifiedMatching +Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref OMIM:600269 semapv:UnspecifiedMatching +Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome oboInOwl:hasDbXref UMLS:C1838328 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref MESH:C566112 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref MedDRA:10085085 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:184900 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref OMIM:228020 semapv:UnspecifiedMatching +Orphanet:2833 Stiff skin syndrome oboInOwl:hasDbXref UMLS:C1861456 semapv:UnspecifiedMatching +Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref MESH:C536750 semapv:UnspecifiedMatching +Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching +Orphanet:2834 Wrinkly skin syndrome oboInOwl:hasDbXref UMLS:C0406587 semapv:UnspecifiedMatching +Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref MESH:C536728 semapv:UnspecifiedMatching +Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref OMIM:600399 semapv:UnspecifiedMatching +Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome oboInOwl:hasDbXref UMLS:C2931302 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref MESH:C536317 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref MedDRA:10086607 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching +Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref UMLS:C1850055 semapv:UnspecifiedMatching +Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref OMIM:260650 semapv:UnspecifiedMatching +Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref MedDRA:10069463 semapv:UnspecifiedMatching +Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref OMIM:276600 semapv:UnspecifiedMatching +Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref UMLS:C0268487 semapv:UnspecifiedMatching +Orphanet:2838 Renal caliceal diverticuli-deafness syndrome oboInOwl:hasDbXref ICD10:Q64.8 semapv:UnspecifiedMatching +Orphanet:2838 Renal caliceal diverticuli-deafness syndrome oboInOwl:hasDbXref UMLS:C5190738 semapv:UnspecifiedMatching +Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref MESH:C566811 semapv:UnspecifiedMatching +Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref OMIM:169550 semapv:UnspecifiedMatching +Orphanet:2839 Pelvis-shoulder dysplasia oboInOwl:hasDbXref UMLS:C1868508 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.7 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref ICD10:B67.7 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref MESH:C536591 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref MedDRA:10053042 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref UMLS:C0152069 semapv:UnspecifiedMatching +Orphanet:284 Alveolar echinococcosis oboInOwl:hasDbXref icd11:1F73.Y semapv:UnspecifiedMatching +Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref MESH:C535292 semapv:UnspecifiedMatching +Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref OMIM:602484 semapv:UnspecifiedMatching +Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref UMLS:C2930869 semapv:UnspecifiedMatching +Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching +Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching +Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching +Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref icd11:EC20.2 semapv:UnspecifiedMatching +Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching +Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref OMIM:245600 semapv:UnspecifiedMatching +Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref UMLS:C4706575 semapv:UnspecifiedMatching +Orphanet:284149 Craniosynostosis-dental anomalies oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:284149 Craniosynostosis-dental anomalies oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:284149 Craniosynostosis-dental anomalies oboInOwl:hasDbXref OMIM:614188 semapv:UnspecifiedMatching +Orphanet:284149 Craniosynostosis-dental anomalies oboInOwl:hasDbXref UMLS:C3280073 semapv:UnspecifiedMatching +Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref OMIM:614230 semapv:UnspecifiedMatching +Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4305343 semapv:UnspecifiedMatching +Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.80 semapv:UnspecifiedMatching +Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching +Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref UMLS:C5190686 semapv:UnspecifiedMatching +Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching +Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching +Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref MESH:C536650 semapv:UnspecifiedMatching +Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref MedDRA:10067287 semapv:UnspecifiedMatching +Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref UMLS:C1868854 semapv:UnspecifiedMatching +Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref UMLS:C3854394 semapv:UnspecifiedMatching +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref OMIM:614228 semapv:UnspecifiedMatching +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref UMLS:C3280220 semapv:UnspecifiedMatching +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref OMIM:614224 semapv:UnspecifiedMatching +Orphanet:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref UMLS:C3280205 semapv:UnspecifiedMatching +Orphanet:284247 Familial retinal arterial macroaneurysm oboInOwl:hasDbXref icd11:9B7Y semapv:UnspecifiedMatching +Orphanet:284264 IgG4-related disease oboInOwl:hasDbXref MESH:D000077733 semapv:UnspecifiedMatching +Orphanet:284264 IgG4-related disease oboInOwl:hasDbXref MedDRA:10071569 semapv:UnspecifiedMatching +Orphanet:284264 IgG4-related disease oboInOwl:hasDbXref UMLS:C3203653 semapv:UnspecifiedMatching +Orphanet:284264 IgG4-related disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref OMIM:614229 semapv:UnspecifiedMatching +Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome oboInOwl:hasDbXref UMLS:C5190803 semapv:UnspecifiedMatching +Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref OMIM:614322 semapv:UnspecifiedMatching +Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency oboInOwl:hasDbXref UMLS:C3280452 semapv:UnspecifiedMatching +Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:613728 semapv:UnspecifiedMatching +Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia oboInOwl:hasDbXref UMLS:C3150998 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref MESH:C536652 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref MedDRA:10064170 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref OMIM:260800 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref UMLS:C0268162 semapv:UnspecifiedMatching +Orphanet:2843 Pentosuria oboInOwl:hasDbXref icd11:5C51.0 semapv:UnspecifiedMatching +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref MESH:C563753 semapv:UnspecifiedMatching +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref OMIM:609270 semapv:UnspecifiedMatching +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia oboInOwl:hasDbXref UMLS:C1836474 semapv:UnspecifiedMatching +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref MESH:C537312 semapv:UnspecifiedMatching +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C1842676 semapv:UnspecifiedMatching +Orphanet:284339 Pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:284339 Pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:284339 Pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref OMIM:614969 semapv:UnspecifiedMatching +Orphanet:284339 Pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref UMLS:C3554226 semapv:UnspecifiedMatching +Orphanet:284343 DICER1 tumor-predisposition syndrome oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:284343 DICER1 tumor-predisposition syndrome oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:284343 DICER1 tumor-predisposition syndrome oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching +Orphanet:284343 DICER1 tumor-predisposition syndrome oboInOwl:hasDbXref UMLS:C3839822 semapv:UnspecifiedMatching +Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref ICD10:D14.3 semapv:UnspecifiedMatching +Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref ICD10:D14.3 semapv:UnspecifiedMatching +Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref UMLS:C5679952 semapv:UnspecifiedMatching +Orphanet:284362 Fetal lung interstitial tumor oboInOwl:hasDbXref icd11:LA75.Y semapv:UnspecifiedMatching +Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref MedDRA:10073240 semapv:UnspecifiedMatching +Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref UMLS:C3544214 semapv:UnspecifiedMatching +Orphanet:284388 Reversible cerebral vasoconstriction syndrome oboInOwl:hasDbXref icd11:8B22.2 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung oboInOwl:hasDbXref UMLS:C3873372 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref ICD10:C67.9 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref UMLS:C1332564 semapv:UnspecifiedMatching +Orphanet:284400 Small cell carcinoma of the bladder oboInOwl:hasDbXref icd11:2C13.Y semapv:UnspecifiedMatching +Orphanet:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching +Orphanet:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref UMLS:C5681029 semapv:UnspecifiedMatching +Orphanet:284411 Glycerol kinase deficiency, juvenile form oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching +Orphanet:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching +Orphanet:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref UMLS:C5681013 semapv:UnspecifiedMatching +Orphanet:284414 Glycerol kinase deficiency, adult form oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching +Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:610992 semapv:UnspecifiedMatching +Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form oboInOwl:hasDbXref UMLS:C1970253 semapv:UnspecifiedMatching +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref MESH:C538133 semapv:UnspecifiedMatching +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref OMIM:612933 semapv:UnspecifiedMatching +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref UMLS:C2931743 semapv:UnspecifiedMatching +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref MESH:C563641 semapv:UnspecifiedMatching +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref OMIM:614128 semapv:UnspecifiedMatching +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref UMLS:C3279904 semapv:UnspecifiedMatching +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:284448 CLIPPERS oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:284448 CLIPPERS oboInOwl:hasDbXref MedDRA:10075197 semapv:UnspecifiedMatching +Orphanet:284448 CLIPPERS oboInOwl:hasDbXref UMLS:C3854437 semapv:UnspecifiedMatching +Orphanet:284448 CLIPPERS oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:284454 Acute zonal occult outer retinopathy oboInOwl:hasDbXref UMLS:C0730298 semapv:UnspecifiedMatching +Orphanet:284460 Acute annular outer retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:284460 Acute annular outer retinopathy oboInOwl:hasDbXref UMLS:C5191002 semapv:UnspecifiedMatching +Orphanet:2846 Congenital pericardium anomaly oboInOwl:hasDbXref UMLS:C0685699 semapv:UnspecifiedMatching +Orphanet:2846 Congenital pericardium anomaly oboInOwl:hasDbXref icd11:LA8D semapv:UnspecifiedMatching +Orphanet:2847 Pericardial and diaphragmatic defect oboInOwl:hasDbXref ICD10:Q79.1 semapv:UnspecifiedMatching +Orphanet:2847 Pericardial and diaphragmatic defect oboInOwl:hasDbXref UMLS:C4510305 semapv:UnspecifiedMatching +Orphanet:284786 Qualitative or quantitative defects of troponin oboInOwl:hasDbXref UMLS:C5681011 semapv:UnspecifiedMatching +Orphanet:284790 Qualitative or quantitative defects of tropomyosin oboInOwl:hasDbXref UMLS:C5681012 semapv:UnspecifiedMatching +Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref ICD10:M12.8 semapv:UnspecifiedMatching +Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref MESH:C537560 semapv:UnspecifiedMatching +Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 semapv:UnspecifiedMatching +Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome oboInOwl:hasDbXref UMLS:C1859690 semapv:UnspecifiedMatching +Orphanet:284804 Ocular albinism oboInOwl:hasDbXref MESH:D016117 semapv:UnspecifiedMatching +Orphanet:284804 Ocular albinism oboInOwl:hasDbXref MedDRA:10065276 semapv:UnspecifiedMatching +Orphanet:284804 Ocular albinism oboInOwl:hasDbXref UMLS:C0078917 semapv:UnspecifiedMatching +Orphanet:284811 Syndromic oculocutaneous albinism oboInOwl:hasDbXref UMLS:C5681016 semapv:UnspecifiedMatching +Orphanet:284814 Disorder of phenylalanine metabolism oboInOwl:hasDbXref UMLS:C0268461 semapv:UnspecifiedMatching +Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref UMLS:C0268482 semapv:UnspecifiedMatching +Orphanet:284818 Disorder of tyrosine metabolism oboInOwl:hasDbXref icd11:5C50.1 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref MESH:C536399 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref MedDRA:10088870 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref OMIM:267000 semapv:UnspecifiedMatching +Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref UMLS:C0796113 semapv:UnspecifiedMatching +Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching +Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching +Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching +Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref UMLS:C2931058 semapv:UnspecifiedMatching +Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching +Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref UMLS:C4016054 semapv:UnspecifiedMatching +Orphanet:284979 Neonatal Marfan syndrome oboInOwl:hasDbXref icd11:LD28.0Y semapv:UnspecifiedMatching +Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref OMIM:613795 semapv:UnspecifiedMatching +Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref UMLS:C4760764 semapv:UnspecifiedMatching +Orphanet:284984 Aneurysm-osteoarthritis syndrome oboInOwl:hasDbXref icd11:LD28.0Y semapv:UnspecifiedMatching +Orphanet:284993 Marfan syndrome and Marfan-related disorders oboInOwl:hasDbXref UMLS:C5681015 semapv:UnspecifiedMatching +Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536196 semapv:UnspecifiedMatching +Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching +Orphanet:285 Hypermobile Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268337 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536660 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:203650 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:610422 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:613930 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618840 semapv:UnspecifiedMatching +Orphanet:2850 Alopecia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931280 semapv:UnspecifiedMatching +Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref UMLS:C5681014 semapv:UnspecifiedMatching +Orphanet:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref MESH:C537586 semapv:UnspecifiedMatching +Orphanet:2853 Serpentine fibula-polycystic kidneys syndrome oboInOwl:hasDbXref UMLS:C1838257 semapv:UnspecifiedMatching +Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref MESH:C538189 semapv:UnspecifiedMatching +Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref OMIM:228930 semapv:UnspecifiedMatching +Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref UMLS:C1856728 semapv:UnspecifiedMatching +Orphanet:2854 Fuhrmann syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref MESH:C537286 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:233400 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:614129 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:614926 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:615300 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:616138 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref OMIM:617565 semapv:UnspecifiedMatching +Orphanet:2855 Perrault syndrome oboInOwl:hasDbXref UMLS:C0685838 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref ICD10:Q55.8 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref MESH:C536665 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref MedDRA:10081352 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref OMIM:261550 semapv:UnspecifiedMatching +Orphanet:2856 Persistent Müllerian duct syndrome oboInOwl:hasDbXref UMLS:C1849930 semapv:UnspecifiedMatching +Orphanet:285657 Disorder of folate metabolism and transport oboInOwl:hasDbXref UMLS:C5681010 semapv:UnspecifiedMatching +Orphanet:285657 Disorder of folate metabolism and transport oboInOwl:hasDbXref icd11:5C63.1 semapv:UnspecifiedMatching +Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D000094623 semapv:UnspecifiedMatching +Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 semapv:UnspecifiedMatching +Orphanet:286 Vascular Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268338 semapv:UnspecifiedMatching +Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref MESH:C566105 semapv:UnspecifiedMatching +Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref OMIM:185120 semapv:UnspecifiedMatching +Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome oboInOwl:hasDbXref UMLS:C1861448 semapv:UnspecifiedMatching +Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref MESH:C535613 semapv:UnspecifiedMatching +Orphanet:2865 Short stature-webbed neck-heart disease syndrome oboInOwl:hasDbXref UMLS:C2930950 semapv:UnspecifiedMatching +Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4274785 semapv:UnspecifiedMatching +Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref MESH:C537121 semapv:UnspecifiedMatching +Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref OMIM:601350 semapv:UnspecifiedMatching +Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref UMLS:C1832439 semapv:UnspecifiedMatching +Orphanet:2867 Short stature, Brussels type oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref OMIM:126190 semapv:UnspecifiedMatching +Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome oboInOwl:hasDbXref UMLS:C4274784 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref MedDRA:10034764 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0031269 semapv:UnspecifiedMatching +Orphanet:2869 Peutz-Jeghers syndrome oboInOwl:hasDbXref icd11:LD2D.0 semapv:UnspecifiedMatching +Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130000 semapv:UnspecifiedMatching +Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130010 semapv:UnspecifiedMatching +Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C4225429 semapv:UnspecifiedMatching +Orphanet:287 Classical Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.10 semapv:UnspecifiedMatching +Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome oboInOwl:hasDbXref ICD10:N48.6 semapv:UnspecifiedMatching +Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome oboInOwl:hasDbXref ICD10:N48.6 semapv:UnspecifiedMatching +Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref MESH:C537889 semapv:UnspecifiedMatching +Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref OMIM:261560 semapv:UnspecifiedMatching +Orphanet:2871 Pfeiffer-Palm-Teller syndrome oboInOwl:hasDbXref UMLS:C1849929 semapv:UnspecifiedMatching +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref MESH:C535578 semapv:UnspecifiedMatching +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref OMIM:218450 semapv:UnspecifiedMatching +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref UMLS:C1857495 semapv:UnspecifiedMatching +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref MESH:C537893 semapv:UnspecifiedMatching +Orphanet:2874 Phakomatosis pigmentokeratotica oboInOwl:hasDbXref UMLS:C2931658 semapv:UnspecifiedMatching +Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref MESH:C537894 semapv:UnspecifiedMatching +Orphanet:2875 Phakomatosis pigmentovascularis oboInOwl:hasDbXref UMLS:C1274879 semapv:UnspecifiedMatching +Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref MESH:C538357 semapv:UnspecifiedMatching +Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref OMIM:261575 semapv:UnspecifiedMatching +Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref UMLS:C1849928 semapv:UnspecifiedMatching +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref MESH:C537498 semapv:UnspecifiedMatching +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref OMIM:171480 semapv:UnspecifiedMatching +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref UMLS:C1868390 semapv:UnspecifiedMatching +Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref MESH:C535612 semapv:UnspecifiedMatching +Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref OMIM:276820 semapv:UnspecifiedMatching +Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref MESH:D004612 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref MedDRA:10014490 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:130600 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:235370 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:611804 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref OMIM:617948 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref UMLS:C0013902 semapv:UnspecifiedMatching +Orphanet:288 Hereditary elliptocytosis oboInOwl:hasDbXref icd11:3A10.2 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref MESH:C536654 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261650 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref OMIM:261680 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref UMLS:C0268194 semapv:UnspecifiedMatching +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency oboInOwl:hasDbXref icd11:5C53.0Y semapv:UnspecifiedMatching +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref ICD10:L57.8 semapv:UnspecifiedMatching +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref MESH:C536224 semapv:UnspecifiedMatching +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref OMIM:219095 semapv:UnspecifiedMatching +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome oboInOwl:hasDbXref UMLS:C4303808 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref MESH:C537345 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref MedDRA:10063985 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref OMIM:618666 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref UMLS:C0342907 semapv:UnspecifiedMatching +Orphanet:2882 Sitosterolemia oboInOwl:hasDbXref icd11:5C52.1Y semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref MESH:D016116 semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref MedDRA:10084262 semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching +Orphanet:2884 Piebaldism oboInOwl:hasDbXref UMLS:C0080024 semapv:UnspecifiedMatching +Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref MESH:C536955 semapv:UnspecifiedMatching +Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref OMIM:172850 semapv:UnspecifiedMatching +Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref UMLS:C1868311 semapv:UnspecifiedMatching +Orphanet:2886 TARP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2886 TARP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2886 TARP syndrome oboInOwl:hasDbXref MESH:C536942 semapv:UnspecifiedMatching +Orphanet:2886 TARP syndrome oboInOwl:hasDbXref OMIM:311900 semapv:UnspecifiedMatching +Orphanet:2886 TARP syndrome oboInOwl:hasDbXref UMLS:C1839463 semapv:UnspecifiedMatching +Orphanet:2886 TARP syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref MESH:C564078 semapv:UnspecifiedMatching +Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref OMIM:311895 semapv:UnspecifiedMatching +Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome oboInOwl:hasDbXref UMLS:C2931064 semapv:UnspecifiedMatching +Orphanet:2889 Pili torti oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:2889 Pili torti oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:2889 Pili torti oboInOwl:hasDbXref MESH:C562485 semapv:UnspecifiedMatching +Orphanet:2889 Pili torti oboInOwl:hasDbXref OMIM:261900 semapv:UnspecifiedMatching +Orphanet:2889 Pili torti oboInOwl:hasDbXref UMLS:C0263491 semapv:UnspecifiedMatching +Orphanet:2889 Pili torti oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MESH:D004613 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref MedDRA:10008724 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:225500 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:617088 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref OMIM:618123 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref UMLS:C0013903 semapv:UnspecifiedMatching +Orphanet:289 Ellis Van Creveld syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref MESH:C537399 semapv:UnspecifiedMatching +Orphanet:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref UMLS:C4509919 semapv:UnspecifiedMatching +Orphanet:2890 Pili torti-onychodysplasia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:289098 Disorders of vitamin D metabolism oboInOwl:hasDbXref UMLS:C5681017 semapv:UnspecifiedMatching +Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref MESH:C537398 semapv:UnspecifiedMatching +Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref OMIM:261990 semapv:UnspecifiedMatching +Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome oboInOwl:hasDbXref UMLS:C4274783 semapv:UnspecifiedMatching +Orphanet:289103 Hypocalcemic rickets oboInOwl:hasDbXref UMLS:C4302195 semapv:UnspecifiedMatching +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref ICD10:E55.0 semapv:UnspecifiedMatching +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:264700 semapv:UnspecifiedMatching +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref OMIM:600081 semapv:UnspecifiedMatching +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref UMLS:C0268689 semapv:UnspecifiedMatching +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets oboInOwl:hasDbXref icd11:5C63.20 semapv:UnspecifiedMatching +Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:241520 semapv:UnspecifiedMatching +Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:613312 semapv:UnspecifiedMatching +Orphanet:289176 Autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0342643 semapv:UnspecifiedMatching +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref MESH:C535763 semapv:UnspecifiedMatching +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref OMIM:262020 semapv:UnspecifiedMatching +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref UMLS:C1849805 semapv:UnspecifiedMatching +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref UMLS:C4749281 semapv:UnspecifiedMatching +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref OMIM:614300 semapv:UnspecifiedMatching +Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref UMLS:C4706555 semapv:UnspecifiedMatching +Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614105 semapv:UnspecifiedMatching +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5190633 semapv:UnspecifiedMatching +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref ICD10:G04.1 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref ICD10:G04.1 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref MESH:D015493 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref MedDRA:10044696 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching +Orphanet:289326 Tropical spastic paraparesis oboInOwl:hasDbXref UMLS:C0030481 semapv:UnspecifiedMatching +Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref ICD10:L30.3 semapv:UnspecifiedMatching +Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref ICD10:L30.3 semapv:UnspecifiedMatching +Orphanet:289347 Infective dermatitis associated with HTLV-1 oboInOwl:hasDbXref UMLS:C4274291 semapv:UnspecifiedMatching +Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:289356 Primary non-gestational choriocarcinoma of ovary oboInOwl:hasDbXref UMLS:C4274424 semapv:UnspecifiedMatching +Orphanet:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:289362 Non-central nervous system-localized embryonal carcinoma oboInOwl:hasDbXref UMLS:C5679946 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref ICD10:N13.7 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:193000 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:610878 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:613674 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614317 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614318 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:614319 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:615390 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref OMIM:615963 semapv:UnspecifiedMatching +Orphanet:289365 Familial vesicoureteral reflux oboInOwl:hasDbXref UMLS:C4706552 semapv:UnspecifiedMatching +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref MESH:C567129 semapv:UnspecifiedMatching +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref OMIM:611705 semapv:UnspecifiedMatching +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy oboInOwl:hasDbXref UMLS:C2673677 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref MESH:C564968 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref MedDRA:10064584 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref OMIM:255600 semapv:UnspecifiedMatching +Orphanet:289380 Myosclerosis oboInOwl:hasDbXref UMLS:C1850671 semapv:UnspecifiedMatching +Orphanet:289385 Malignancy diagnosed during pregnancy oboInOwl:hasDbXref ICD10:O99.8 semapv:UnspecifiedMatching +Orphanet:289385 Malignancy diagnosed during pregnancy oboInOwl:hasDbXref UMLS:C5679948 semapv:UnspecifiedMatching +Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching +Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching +Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref OMIM:270150 semapv:UnspecifiedMatching +Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref UMLS:C0151449 semapv:UnspecifiedMatching +Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref icd11:4A43.20 semapv:UnspecifiedMatching +Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching +Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching +Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref OMIM:136000 semapv:UnspecifiedMatching +Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref UMLS:C4706567 semapv:UnspecifiedMatching +Orphanet:289478 PASH syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:289478 PASH syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:289478 PASH syndrome oboInOwl:hasDbXref UMLS:C5191642 semapv:UnspecifiedMatching +Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref OMIM:300858 semapv:UnspecifiedMatching +Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref UMLS:C4706563 semapv:UnspecifiedMatching +Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:289494 4H leukodystrophy oboInOwl:hasDbXref UMLS:C5679947 semapv:UnspecifiedMatching +Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref OMIM:269400 semapv:UnspecifiedMatching +Orphanet:289499 Congenital cataract microcornea with corneal opacity oboInOwl:hasDbXref UMLS:C3151617 semapv:UnspecifiedMatching +Orphanet:2895 Pinsky-Di George-Harley syndrome oboInOwl:hasDbXref UMLS:C2931500 semapv:UnspecifiedMatching +Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref MESH:C580002 semapv:UnspecifiedMatching +Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref OMIM:614265 semapv:UnspecifiedMatching +Orphanet:289504 Combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS:C3280314 semapv:UnspecifiedMatching +Orphanet:289513 12q15q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:289513 12q15q21.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:289513 12q15q21.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:618608 semapv:UnspecifiedMatching +Orphanet:289513 12q15q21.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4518344 semapv:UnspecifiedMatching +Orphanet:289522 Microtriplication 11q24.1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:289522 Microtriplication 11q24.1 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:289522 Microtriplication 11q24.1 oboInOwl:hasDbXref UMLS:C4749373 semapv:UnspecifiedMatching +Orphanet:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref OMIM:614327 semapv:UnspecifiedMatching +Orphanet:289539 BAP1-related tumor predisposition syndrome oboInOwl:hasDbXref UMLS:C4707290 semapv:UnspecifiedMatching +Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency oboInOwl:hasDbXref OMIM:613743 semapv:UnspecifiedMatching +Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency oboInOwl:hasDbXref UMLS:C4707238 semapv:UnspecifiedMatching +Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome oboInOwl:hasDbXref OMIM:615102 semapv:UnspecifiedMatching +Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome oboInOwl:hasDbXref UMLS:C3554774 semapv:UnspecifiedMatching +Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:614298 semapv:UnspecifiedMatching +Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref UMLS:C3280371 semapv:UnspecifiedMatching +Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:289573 Multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref MESH:C565304 semapv:UnspecifiedMatching +Orphanet:289573 Multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref UMLS:C3502075 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref MESH:C563978 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:607936 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref OMIM:617115 semapv:UnspecifiedMatching +Orphanet:289586 Exfoliative ichthyosis oboInOwl:hasDbXref UMLS:C1838440 semapv:UnspecifiedMatching +Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching +Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref ICD10:D10.6 semapv:UnspecifiedMatching +Orphanet:289596 Juvenile nasopharyngeal angiofibroma oboInOwl:hasDbXref UMLS:C1367536 semapv:UnspecifiedMatching +Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref MESH:C537403 semapv:UnspecifiedMatching +Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref OMIM:610954 semapv:UnspecifiedMatching +Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS:C1970431 semapv:UnspecifiedMatching +Orphanet:2896 Pitt-Hopkins syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref MESH:C565891 semapv:UnspecifiedMatching +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 semapv:UnspecifiedMatching +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref UMLS:C1859372 semapv:UnspecifiedMatching +Orphanet:289635 Rare virus associated tumor oboInOwl:hasDbXref UMLS:C5681008 semapv:UnspecifiedMatching +Orphanet:289638 Epstein-Barr Virus-related tumor oboInOwl:hasDbXref UMLS:C5679942 semapv:UnspecifiedMatching +Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder oboInOwl:hasDbXref MedDRA:10068349 semapv:UnspecifiedMatching +Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder oboInOwl:hasDbXref UMLS:C2363744 semapv:UnspecifiedMatching +Orphanet:289651 Epstein-Barr Virus-associated carcinoma oboInOwl:hasDbXref UMLS:C5679940 semapv:UnspecifiedMatching +Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor oboInOwl:hasDbXref UMLS:C5679941 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref UMLS:C2700007 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref icd11:2A81.6 semapv:UnspecifiedMatching +Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MESH:D000069293 semapv:UnspecifiedMatching +Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MedDRA:10065039 semapv:UnspecifiedMatching +Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref UMLS:C3472614 semapv:UnspecifiedMatching +Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref icd11:2A81.2 semapv:UnspecifiedMatching +Orphanet:289682 Lymphoepithelial-like carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:289685 Myopericytoma oboInOwl:hasDbXref MESH:D000077777 semapv:UnspecifiedMatching +Orphanet:289685 Myopericytoma oboInOwl:hasDbXref UMLS:C1302808 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref ICD10:L44.0 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref ICD10:L44.0 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref MedDRA:10035116 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 semapv:UnspecifiedMatching +Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref UMLS:C0032027 semapv:UnspecifiedMatching +Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref MESH:C537512 semapv:UnspecifiedMatching +Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref OMIM:300064 semapv:UnspecifiedMatching +Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref UMLS:C2931516 semapv:UnspecifiedMatching +Orphanet:289825 Late-onset primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681007 semapv:UnspecifiedMatching +Orphanet:289829 Disorder of tryptophan metabolism oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching +Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching +Orphanet:289841 Disorder of glutamine metabolism oboInOwl:hasDbXref UMLS:C0342669 semapv:UnspecifiedMatching +Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching +Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref UMLS:C1856399 semapv:UnspecifiedMatching +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching +Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching +Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref UMLS:C5548200 semapv:UnspecifiedMatching +Orphanet:289857 Neonatal glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching +Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching +Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref UMLS:C5548209 semapv:UnspecifiedMatching +Orphanet:289860 Infantile glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching +Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching +Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref OMIM:617301 semapv:UnspecifiedMatching +Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref UMLS:C5548198 semapv:UnspecifiedMatching +Orphanet:289863 Atypical glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching +Orphanet:289866 Disorder of proline metabolism oboInOwl:hasDbXref UMLS:C5681004 semapv:UnspecifiedMatching +Orphanet:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:289869 Disorder of ornithine metabolism oboInOwl:hasDbXref UMLS:C0342690 semapv:UnspecifiedMatching +Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref ICD10:P74.8 semapv:UnspecifiedMatching +Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref UMLS:C0268549 semapv:UnspecifiedMatching +Orphanet:289877 Transient hyperammonemia of the newborn oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching +Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref OMIM:606664 semapv:UnspecifiedMatching +Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref UMLS:C1847720 semapv:UnspecifiedMatching +Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:289899 Organic aciduria oboInOwl:hasDbXref UMLS:C0241775 semapv:UnspecifiedMatching +Orphanet:289899 Organic aciduria oboInOwl:hasDbXref icd11:5C50.E semapv:UnspecifiedMatching +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref MESH:C536538 semapv:UnspecifiedMatching +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:601216 semapv:UnspecifiedMatching +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C1832594 semapv:UnspecifiedMatching +Orphanet:289902 3-methylglutaconic aciduria oboInOwl:hasDbXref MESH:C579867 semapv:UnspecifiedMatching +Orphanet:289902 3-methylglutaconic aciduria oboInOwl:hasDbXref UMLS:C3696376 semapv:UnspecifiedMatching +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref UMLS:C0342718 semapv:UnspecifiedMatching +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref MedDRA:10072219 semapv:UnspecifiedMatching +Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching +Orphanet:29 Mevalonic aciduria oboInOwl:hasDbXref UMLS:C1959626 semapv:UnspecifiedMatching +Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref ICD10:P35.0 semapv:UnspecifiedMatching +Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref MESH:D012410 semapv:UnspecifiedMatching +Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref MedDRA:10010618 semapv:UnspecifiedMatching +Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref UMLS:C0035921 semapv:UnspecifiedMatching +Orphanet:290 Congenital rubella syndrome oboInOwl:hasDbXref icd11:KA62.8 semapv:UnspecifiedMatching +Orphanet:2900 Leri pleonosteosis oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2900 Leri pleonosteosis oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:2900 Leri pleonosteosis oboInOwl:hasDbXref MESH:C537118 semapv:UnspecifiedMatching +Orphanet:2900 Leri pleonosteosis oboInOwl:hasDbXref OMIM:151200 semapv:UnspecifiedMatching +Orphanet:2900 Leri pleonosteosis oboInOwl:hasDbXref UMLS:C1835450 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref ICD10:G54.5 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref ICD10:G54.5 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref MESH:D020968 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref MedDRA:10063020 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching +Orphanet:2901 Neuralgic amyotrophy oboInOwl:hasDbXref UMLS:C1510479 semapv:UnspecifiedMatching +Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching +Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C2930941 semapv:UnspecifiedMatching +Orphanet:2902 Idiopathic chronic eosinophilic pneumonia oboInOwl:hasDbXref icd11:CB02.11 semapv:UnspecifiedMatching +Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref ICD10:J93.1 semapv:UnspecifiedMatching +Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref OMIM:173600 semapv:UnspecifiedMatching +Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref UMLS:C4275252 semapv:UnspecifiedMatching +Orphanet:2903 Familial spontaneous pneumothorax oboInOwl:hasDbXref icd11:CB21.1 semapv:UnspecifiedMatching +Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref MESH:D016878 semapv:UnspecifiedMatching +Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref MedDRA:10053869 semapv:UnspecifiedMatching +Orphanet:2905 POEMS syndrome oboInOwl:hasDbXref UMLS:C0085404 semapv:UnspecifiedMatching +Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2907 Hereditary acrokeratotic poikiloderma oboInOwl:hasDbXref UMLS:C0406556 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C74.1 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:C75.5 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.6 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref ICD10:D35.6 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:115310 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:168000 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:171300 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:601650 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:605373 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:614165 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:618464 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref OMIM:618475 semapv:UnspecifiedMatching +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma oboInOwl:hasDbXref UMLS:C4274332 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref ICD10:C90.0 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref ICD10:C90.0 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref MESH:D009101 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref MedDRA:10028228 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref UMLS:C0026764 semapv:UnspecifiedMatching +Orphanet:29073 Multiple myeloma oboInOwl:hasDbXref icd11:2A83.1 semapv:UnspecifiedMatching +Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref MESH:C536321 semapv:UnspecifiedMatching +Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref OMIM:173650 semapv:UnspecifiedMatching +Orphanet:2908 Kindler epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0406557 semapv:UnspecifiedMatching +Orphanet:290836 Systemic disease with skin involvement oboInOwl:hasDbXref UMLS:C5681006 semapv:UnspecifiedMatching +Orphanet:290839 Autoinflammatory syndrome with immune deficiency oboInOwl:hasDbXref UMLS:C5681005 semapv:UnspecifiedMatching +Orphanet:290842 Autoinflammatory syndrome with skin involvement oboInOwl:hasDbXref UMLS:C5681002 semapv:UnspecifiedMatching +Orphanet:290849 Rare head and neck tumor oboInOwl:hasDbXref UMLS:C5681003 semapv:UnspecifiedMatching +Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 semapv:UnspecifiedMatching +Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching +Orphanet:2909 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS:C0032339 semapv:UnspecifiedMatching +Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:291 Congenital varicella syndrome oboInOwl:hasDbXref UMLS:C4275251 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref MedDRA:10036007 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref OMIM:173800 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref UMLS:C0032357 semapv:UnspecifiedMatching +Orphanet:2911 Poland syndrome oboInOwl:hasDbXref icd11:LB73.10 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.0 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.0 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.1 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.1 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.2 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.2 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.3 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.3 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.4 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.4 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref ICD10:A80.9 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref MESH:D011051 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref MedDRA:10036012 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref UMLS:C0032371 semapv:UnspecifiedMatching +Orphanet:2912 Poliomyelitis oboInOwl:hasDbXref icd11:1C81 semapv:UnspecifiedMatching +Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MESH:D017689 semapv:UnspecifiedMatching +Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref MedDRA:10036063 semapv:UnspecifiedMatching +Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching +Orphanet:2913 Non-syndromic polydactyly oboInOwl:hasDbXref UMLS:C0152427 semapv:UnspecifiedMatching +Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref OMIM:263540 semapv:UnspecifiedMatching +Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C4750750 semapv:UnspecifiedMatching +Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref MESH:C536331 semapv:UnspecifiedMatching +Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref OMIM:174310 semapv:UnspecifiedMatching +Orphanet:2917 Polydactyly-myopia syndrome oboInOwl:hasDbXref UMLS:C1868117 semapv:UnspecifiedMatching +Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref MESH:C557819 semapv:UnspecifiedMatching +Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref OMIM:174300 semapv:UnspecifiedMatching +Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref UMLS:C1868118 semapv:UnspecifiedMatching +Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:292 Congenital enterovirus infection oboInOwl:hasDbXref UMLS:C4274223 semapv:UnspecifiedMatching +Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref MESH:C564931 semapv:UnspecifiedMatching +Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref OMIM:258200 semapv:UnspecifiedMatching +Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref UMLS:C1850320 semapv:UnspecifiedMatching +Orphanet:2920 Oliver syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref ICD10:M02.3 semapv:UnspecifiedMatching +Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MESH:D016918 semapv:UnspecifiedMatching +Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref MedDRA:10003267 semapv:UnspecifiedMatching +Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref UMLS:C0085435 semapv:UnspecifiedMatching +Orphanet:29207 Reactive arthritis oboInOwl:hasDbXref icd11:FA11.2 semapv:UnspecifiedMatching +Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537888 semapv:UnspecifiedMatching +Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931655 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MESH:C536330 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref MedDRA:10048834 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref OMIM:174050 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref OMIM:617004 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref UMLS:C4255088 semapv:UnspecifiedMatching +Orphanet:2924 Isolated polycystic liver disease oboInOwl:hasDbXref icd11:DB99.10 semapv:UnspecifiedMatching +Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref MESH:C535624 semapv:UnspecifiedMatching +Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref OMIM:207740 semapv:UnspecifiedMatching +Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy oboInOwl:hasDbXref UMLS:C2930955 semapv:UnspecifiedMatching +Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome oboInOwl:hasDbXref UMLS:C4749397 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref MESH:C537702 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:174900 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching +Orphanet:2929 Juvenile polyposis syndrome oboInOwl:hasDbXref UMLS:C0345893 semapv:UnspecifiedMatching +Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref ICD10:P35.2 semapv:UnspecifiedMatching +Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref UMLS:C4275250 semapv:UnspecifiedMatching +Orphanet:293 Congenital herpes simplex virus infection oboInOwl:hasDbXref icd11:1F00.Y semapv:UnspecifiedMatching +Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref MedDRA:10062907 semapv:UnspecifiedMatching +Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 semapv:UnspecifiedMatching +Orphanet:2930 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS:C0282207 semapv:UnspecifiedMatching +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref UMLS:C5679944 semapv:UnspecifiedMatching +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion oboInOwl:hasDbXref icd11:LB98.Y semapv:UnspecifiedMatching +Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching +Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref UMLS:C5679943 semapv:UnspecifiedMatching +Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref icd11:LB98.Y semapv:UnspecifiedMatching +Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607655 semapv:UnspecifiedMatching +Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4755263 semapv:UnspecifiedMatching +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref MESH:C537217 semapv:UnspecifiedMatching +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref OMIM:607225 semapv:UnspecifiedMatching +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref UMLS:C2931441 semapv:UnspecifiedMatching +Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref ICD10:L27.0 semapv:UnspecifiedMatching +Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref MESH:D056150 semapv:UnspecifiedMatching +Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref MedDRA:10048799 semapv:UnspecifiedMatching +Orphanet:293173 Acute generalized exanthematous pustulosis oboInOwl:hasDbXref UMLS:C0877055 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref MedDRA:10086114 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:614959 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref OMIM:616645 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref UMLS:C3494976 semapv:UnspecifiedMatching +Orphanet:293181 Malignant migrating focal seizures of infancy oboInOwl:hasDbXref icd11:8A61.12 semapv:UnspecifiedMatching +Orphanet:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:293199 Pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0334480 semapv:UnspecifiedMatching +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref MESH:D020277 semapv:UnspecifiedMatching +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref MedDRA:10057645 semapv:UnspecifiedMatching +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref UMLS:C0393819 semapv:UnspecifiedMatching +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching +Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref MedDRA:10015099 semapv:UnspecifiedMatching +Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref UMLS:C0205944 semapv:UnspecifiedMatching +Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref icd11:XH4F96 semapv:UnspecifiedMatching +Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching +Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching +Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref UMLS:C1861783 semapv:UnspecifiedMatching +Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref UMLS:C5679945 semapv:UnspecifiedMatching +Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref UMLS:C4305579 semapv:UnspecifiedMatching +Orphanet:293375 Grayson-Wilbrandt corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref MESH:C565155 semapv:UnspecifiedMatching +Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref OMIM:122400 semapv:UnspecifiedMatching +Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref UMLS:C1852551 semapv:UnspecifiedMatching +Orphanet:293381 Epithelial recurrent erosion dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref MESH:C564875 semapv:UnspecifiedMatching +Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref OMIM:263630 semapv:UnspecifiedMatching +Orphanet:2934 Polysyndactyly-cardiac malformation syndrome oboInOwl:hasDbXref UMLS:C1849719 semapv:UnspecifiedMatching +Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref UMLS:C0339282 semapv:UnspecifiedMatching +Orphanet:293462 Pre-Descemet corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching +Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching +Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref MESH:C566773 semapv:UnspecifiedMatching +Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref OMIM:175690 semapv:UnspecifiedMatching +Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref UMLS:C1867999 semapv:UnspecifiedMatching +Orphanet:2935 Crossed polysyndactyly oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref MESH:C536439 semapv:UnspecifiedMatching +Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref OMIM:217700 semapv:UnspecifiedMatching +Orphanet:293603 Congenital hereditary endothelial dystrophy type II oboInOwl:hasDbXref UMLS:C1857569 semapv:UnspecifiedMatching +Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref MESH:C567587 semapv:UnspecifiedMatching +Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:300779 semapv:UnspecifiedMatching +Orphanet:293621 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749049 semapv:UnspecifiedMatching +Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching +Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref UMLS:C5679934 semapv:UnspecifiedMatching +Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref OMIM:300895 semapv:UnspecifiedMatching +Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref UMLS:C3698541 semapv:UnspecifiedMatching +Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref OMIM:604314 semapv:UnspecifiedMatching +Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type oboInOwl:hasDbXref UMLS:C4755262 semapv:UnspecifiedMatching +Orphanet:293807 Ketamine-induced biliary dilatation oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching +Orphanet:293807 Ketamine-induced biliary dilatation oboInOwl:hasDbXref UMLS:C4512018 semapv:UnspecifiedMatching +Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref ICD10:L25.1 semapv:UnspecifiedMatching +Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref ICD10:L25.1 semapv:UnspecifiedMatching +Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref MedDRA:10016740 semapv:UnspecifiedMatching +Orphanet:293812 Fixed drug eruption oboInOwl:hasDbXref UMLS:C0221242 semapv:UnspecifiedMatching +Orphanet:293815 Toxic dermatosis oboInOwl:hasDbXref UMLS:C5680999 semapv:UnspecifiedMatching +Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching +Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching +Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:614456 semapv:UnspecifiedMatching +Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome oboInOwl:hasDbXref UMLS:C4749577 semapv:UnspecifiedMatching +Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching +Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS:C3150926 semapv:UnspecifiedMatching +Orphanet:293830 Constitutional dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C5680998 semapv:UnspecifiedMatching +Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref UMLS:C4303860 semapv:UnspecifiedMatching +Orphanet:293843 3MC syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref OMIM:615710 semapv:UnspecifiedMatching +Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref UMLS:C4751130 semapv:UnspecifiedMatching +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant oboInOwl:hasDbXref UMLS:C5679933 semapv:UnspecifiedMatching +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant oboInOwl:hasDbXref UMLS:C5679932 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:600996 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant oboInOwl:hasDbXref OMIM:618920 semapv:UnspecifiedMatching +Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:614416 semapv:UnspecifiedMatching +Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4751129 semapv:UnspecifiedMatching +Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref ICD10:H18.6 semapv:UnspecifiedMatching +Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref OMIM:614303 semapv:UnspecifiedMatching +Orphanet:293936 EDICT syndrome oboInOwl:hasDbXref UMLS:C3280392 semapv:UnspecifiedMatching +Orphanet:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref OMIM:300815 semapv:UnspecifiedMatching +Orphanet:293939 Distal Xq28 microduplication syndrome oboInOwl:hasDbXref UMLS:C4751127 semapv:UnspecifiedMatching +Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:293948 1p21.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304578 semapv:UnspecifiedMatching +Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref OMIM:614458 semapv:UnspecifiedMatching +Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency oboInOwl:hasDbXref UMLS:C4751138 semapv:UnspecifiedMatching +Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref OMIM:614187 semapv:UnspecifiedMatching +Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome oboInOwl:hasDbXref UMLS:C4751125 semapv:UnspecifiedMatching +Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref OMIM:240900 semapv:UnspecifiedMatching +Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy oboInOwl:hasDbXref UMLS:C4751124 semapv:UnspecifiedMatching +Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4751123 semapv:UnspecifiedMatching +Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref OMIM:615577 semapv:UnspecifiedMatching +Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4751122 semapv:UnspecifiedMatching +Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref UMLS:C4751121 semapv:UnspecifiedMatching +Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 semapv:UnspecifiedMatching +Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref UMLS:C0349499 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref MESH:D065708 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref MedDRA:10036172 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref UMLS:C0302892 semapv:UnspecifiedMatching +Orphanet:2940 Porencephaly oboInOwl:hasDbXref icd11:LA05.60 semapv:UnspecifiedMatching +Orphanet:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref OMIM:614261 semapv:UnspecifiedMatching +Orphanet:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref UMLS:C3280296 semapv:UnspecifiedMatching +Orphanet:294016 Microcephaly-capillary malformation syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref OMIM:614328 semapv:UnspecifiedMatching +Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref OMIM:616069 semapv:UnspecifiedMatching +Orphanet:294023 Neonatal inflammatory skin and bowel disease oboInOwl:hasDbXref UMLS:C4751120 semapv:UnspecifiedMatching +Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref OMIM:613681 semapv:UnspecifiedMatching +Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref UMLS:C5190993 semapv:UnspecifiedMatching +Orphanet:294049 Reunion Island Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:294049 Reunion Island Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:294057 Rare nevus oboInOwl:hasDbXref UMLS:C5680997 semapv:UnspecifiedMatching +Orphanet:294060 Multiple pterygium syndrome oboInOwl:hasDbXref MESH:C537377 semapv:UnspecifiedMatching +Orphanet:294060 Multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C0265261 semapv:UnspecifiedMatching +Orphanet:294060 Multiple pterygium syndrome oboInOwl:hasDbXref icd11:LD26.40 semapv:UnspecifiedMatching +Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref OMIM:601322 semapv:UnspecifiedMatching +Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome oboInOwl:hasDbXref UMLS:C0796119 semapv:UnspecifiedMatching +Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10:G14 semapv:UnspecifiedMatching +Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10:G14 semapv:UnspecifiedMatching +Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref MESH:D016262 semapv:UnspecifiedMatching +Orphanet:2942 Postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS:C0080040 semapv:UnspecifiedMatching +Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching +Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref MESH:C567142 semapv:UnspecifiedMatching +Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:208540 semapv:UnspecifiedMatching +Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:615415 semapv:UnspecifiedMatching +Orphanet:294415 Renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref UMLS:C2673883 semapv:UnspecifiedMatching +Orphanet:294422 Chronic intestinal failure oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:294422 Chronic intestinal failure oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:294422 Chronic intestinal failure oboInOwl:hasDbXref UMLS:C4274352 semapv:UnspecifiedMatching +Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref MESH:C566204 semapv:UnspecifiedMatching +Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref OMIM:112430 semapv:UnspecifiedMatching +Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref UMLS:C1862169 semapv:UnspecifiedMatching +Orphanet:2946 Brachydactyly-long thumb syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref MESH:C536564 semapv:UnspecifiedMatching +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref OMIM:190680 semapv:UnspecifiedMatching +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref UMLS:C1860804 semapv:UnspecifiedMatching +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:294925 Amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294925 Amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294925 Amelia oboInOwl:hasDbXref MedDRA:10001926 semapv:UnspecifiedMatching +Orphanet:294925 Amelia oboInOwl:hasDbXref UMLS:C0002447 semapv:UnspecifiedMatching +Orphanet:294927 Intercalary limb defects oboInOwl:hasDbXref UMLS:C5679931 semapv:UnspecifiedMatching +Orphanet:294944 Congenital deformities of limbs oboInOwl:hasDbXref MESH:D017880 semapv:UnspecifiedMatching +Orphanet:294944 Congenital deformities of limbs oboInOwl:hasDbXref MedDRA:10024500 semapv:UnspecifiedMatching +Orphanet:294944 Congenital deformities of limbs oboInOwl:hasDbXref UMLS:C0206762 semapv:UnspecifiedMatching +Orphanet:294949 Joint formation defects oboInOwl:hasDbXref UMLS:C5680994 semapv:UnspecifiedMatching +Orphanet:294949 Joint formation defects oboInOwl:hasDbXref icd11:LB90 semapv:UnspecifiedMatching +Orphanet:294953 Non syndromic limb overgrowth oboInOwl:hasDbXref UMLS:C5680996 semapv:UnspecifiedMatching +Orphanet:294955 Syndrome with limb reduction defects oboInOwl:hasDbXref UMLS:C5680995 semapv:UnspecifiedMatching +Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs oboInOwl:hasDbXref UMLS:C5681000 semapv:UnspecifiedMatching +Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching +Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy oboInOwl:hasDbXref UMLS:C5681001 semapv:UnspecifiedMatching +Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref MESH:C562509 semapv:UnspecifiedMatching +Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref MedDRA:10079892 semapv:UnspecifiedMatching +Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref UMLS:C0265259 semapv:UnspecifiedMatching +Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching +Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching +Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref UMLS:C0265570 semapv:UnspecifiedMatching +Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching +Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching +Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref UMLS:C0265621 semapv:UnspecifiedMatching +Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref icd11:LB9A.0 semapv:UnspecifiedMatching +Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref MESH:C536498 semapv:UnspecifiedMatching +Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching +Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0685375 semapv:UnspecifiedMatching +Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching +Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching +Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref UMLS:C0265574 semapv:UnspecifiedMatching +Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref icd11:LB99.4 semapv:UnspecifiedMatching +Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching +Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching +Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref UMLS:C0265626 semapv:UnspecifiedMatching +Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching +Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching +Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref UMLS:C1306663 semapv:UnspecifiedMatching +Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref icd11:LB99.5 semapv:UnspecifiedMatching +Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching +Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching +Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref UMLS:C3649652 semapv:UnspecifiedMatching +Orphanet:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294983 Acheiria oboInOwl:hasDbXref UMLS:C0265594 semapv:UnspecifiedMatching +Orphanet:294983 Acheiria oboInOwl:hasDbXref icd11:LB99.6 semapv:UnspecifiedMatching +Orphanet:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching +Orphanet:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching +Orphanet:294986 Apodia oboInOwl:hasDbXref UMLS:C0265624 semapv:UnspecifiedMatching +Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref UMLS:C0431890 semapv:UnspecifiedMatching +Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching +Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref MESH:C536301 semapv:UnspecifiedMatching +Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref UMLS:C2931167 semapv:UnspecifiedMatching +Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref icd11:KA62.7 semapv:UnspecifiedMatching +Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C536563 semapv:UnspecifiedMatching +Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref MESH:D000652 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref MedDRA:10064100 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref OMIM:217100 semapv:UnspecifiedMatching +Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref UMLS:C0002636 semapv:UnspecifiedMatching +Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref UMLS:C4706507 semapv:UnspecifiedMatching +Orphanet:295004 Central polydactyly oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:295004 Central polydactyly oboInOwl:hasDbXref UMLS:C0431903 semapv:UnspecifiedMatching +Orphanet:295004 Central polydactyly oboInOwl:hasDbXref icd11:LB78.3 semapv:UnspecifiedMatching +Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:295012 Syndactyly type 6 oboInOwl:hasDbXref UMLS:C4706525 semapv:UnspecifiedMatching +Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref UMLS:C4706540 semapv:UnspecifiedMatching +Orphanet:295014 Familial isolated clinodactyly of fingers oboInOwl:hasDbXref icd11:LB80.0 semapv:UnspecifiedMatching +Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref OMIM:114200 semapv:UnspecifiedMatching +Orphanet:295016 Camptodactyly of fingers oboInOwl:hasDbXref UMLS:C5551400 semapv:UnspecifiedMatching +Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295018 Congenital pseudoarthrosis of the tibia oboInOwl:hasDbXref UMLS:C0265661 semapv:UnspecifiedMatching +Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295020 Congenital pseudoarthrosis of the femur oboInOwl:hasDbXref UMLS:C5679939 semapv:UnspecifiedMatching +Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295022 Congenital pseudoarthrosis of the fibula oboInOwl:hasDbXref UMLS:C5679935 semapv:UnspecifiedMatching +Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295024 Congenital pseudoarthrosis of the radius oboInOwl:hasDbXref UMLS:C5679936 semapv:UnspecifiedMatching +Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref UMLS:C5679937 semapv:UnspecifiedMatching +Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref UMLS:C4545230 semapv:UnspecifiedMatching +Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref UMLS:C0265562 semapv:UnspecifiedMatching +Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref icd11:LB91 semapv:UnspecifiedMatching +Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref UMLS:C5679938 semapv:UnspecifiedMatching +Orphanet:295032 Isolated congenital radial head dislocation oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching +Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching +Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref MedDRA:10010520 semapv:UnspecifiedMatching +Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref UMLS:C0265669 semapv:UnspecifiedMatching +Orphanet:295034 Congenital knee dislocation oboInOwl:hasDbXref icd11:LB93 semapv:UnspecifiedMatching +Orphanet:295036 Congenital patella dislocation oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:295036 Congenital patella dislocation oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:295036 Congenital patella dislocation oboInOwl:hasDbXref MESH:C538081 semapv:UnspecifiedMatching +Orphanet:295036 Congenital patella dislocation oboInOwl:hasDbXref UMLS:C0345360 semapv:UnspecifiedMatching +Orphanet:295036 Congenital patella dislocation oboInOwl:hasDbXref icd11:LB94 semapv:UnspecifiedMatching +Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref MESH:C537720 semapv:UnspecifiedMatching +Orphanet:295044 Macrodactyly of fingers oboInOwl:hasDbXref UMLS:C0574044 semapv:UnspecifiedMatching +Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295047 Macrodactyly of toes oboInOwl:hasDbXref UMLS:C0158768 semapv:UnspecifiedMatching +Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295049 Upper limb hypertrophy oboInOwl:hasDbXref UMLS:C0575518 semapv:UnspecifiedMatching +Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295051 Lower limb hypertrophy oboInOwl:hasDbXref UMLS:C0431928 semapv:UnspecifiedMatching +Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:274190 semapv:UnspecifiedMatching +Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4304503 semapv:UnspecifiedMatching +Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref MESH:C565223 semapv:UnspecifiedMatching +Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref OMIM:609815 semapv:UnspecifiedMatching +Orphanet:295187 Zygodactyly type 1 oboInOwl:hasDbXref UMLS:C1853294 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295189 Zygodactyly type 2 oboInOwl:hasDbXref UMLS:C5679982 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295191 Zygodactyly type 3 oboInOwl:hasDbXref UMLS:C5679983 semapv:UnspecifiedMatching +Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:295193 Zygodactyly type 4 oboInOwl:hasDbXref UMLS:C5679981 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref OMIM:186000 semapv:UnspecifiedMatching +Orphanet:295195 Synpolydactyly type 1 oboInOwl:hasDbXref UMLS:C5574994 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref MESH:C564278 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching +Orphanet:295197 Synpolydactyly type 2 oboInOwl:hasDbXref UMLS:C1842422 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref MESH:C565216 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching +Orphanet:295199 Synpolydactyly type 3 oboInOwl:hasDbXref UMLS:C1853255 semapv:UnspecifiedMatching +Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref OMIM:201550 semapv:UnspecifiedMatching +Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type oboInOwl:hasDbXref UMLS:C4304055 semapv:UnspecifiedMatching +Orphanet:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching +Orphanet:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref UMLS:C5681089 semapv:UnspecifiedMatching +Orphanet:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref icd11:LB98.4 semapv:UnspecifiedMatching +Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching +Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref icd11:LB98.4 semapv:UnspecifiedMatching +Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref UMLS:C5679986 semapv:UnspecifiedMatching +Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching +Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching +Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref UMLS:C5679984 semapv:UnspecifiedMatching +Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref UMLS:C5679985 semapv:UnspecifiedMatching +Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref UMLS:C5681091 semapv:UnspecifiedMatching +Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching +Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching +Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching +Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref UMLS:C0152235 semapv:UnspecifiedMatching +Orphanet:295232 Congenital genu flexum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching +Orphanet:295232 Congenital genu flexum oboInOwl:hasDbXref UMLS:C5681090 semapv:UnspecifiedMatching +Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref UMLS:C5679987 semapv:UnspecifiedMatching +Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref UMLS:C5679988 semapv:UnspecifiedMatching +Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:601776 semapv:UnspecifiedMatching +Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615539 semapv:UnspecifiedMatching +Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref MESH:C538180 semapv:UnspecifiedMatching +Orphanet:2956 Acrodysplasia scoliosis oboInOwl:hasDbXref UMLS:C2931761 semapv:UnspecifiedMatching +Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref MESH:C538278 semapv:UnspecifiedMatching +Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref OMIM:176305 semapv:UnspecifiedMatching +Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref UMLS:C1867801 semapv:UnspecifiedMatching +Orphanet:2957 Guttmacher syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:309610 semapv:UnspecifiedMatching +Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C4304934 semapv:UnspecifiedMatching +Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref MESH:C536422 semapv:UnspecifiedMatching +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref OMIM:176690 semapv:UnspecifiedMatching +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome oboInOwl:hasDbXref UMLS:C1261128 semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref MESH:D004687 semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref MedDRA:10014642 semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref OMIM:166000 semapv:UnspecifiedMatching +Orphanet:296 Ollier disease oboInOwl:hasDbXref UMLS:C0014084 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref MESH:C535990 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref MedDRA:10083947 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching +Orphanet:2962 De Barsy syndrome oboInOwl:hasDbXref UMLS:C0268354 semapv:UnspecifiedMatching +Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref MESH:C567360 semapv:UnspecifiedMatching +Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref OMIM:612289 semapv:UnspecifiedMatching +Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref UMLS:C2676780 semapv:UnspecifiedMatching +Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref ICD10:K07.1 semapv:UnspecifiedMatching +Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref OMIM:176700 semapv:UnspecifiedMatching +Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref UMLS:C5680744 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref MESH:D015175 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref MedDRA:10036832 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref UMLS:C0033375 semapv:UnspecifiedMatching +Orphanet:2965 Prolactinoma oboInOwl:hasDbXref icd11:XH1QS0 semapv:UnspecifiedMatching +Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref MESH:C537241 semapv:UnspecifiedMatching +Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref OMIM:312060 semapv:UnspecifiedMatching +Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref UMLS:C0398762 semapv:UnspecifiedMatching +Orphanet:2966 Properdin deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching +Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching +Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching +Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref MESH:C562798 semapv:UnspecifiedMatching +Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref OMIM:193090 semapv:UnspecifiedMatching +Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref UMLS:C0342700 semapv:UnspecifiedMatching +Orphanet:2967 Transcobalamin I deficiency oboInOwl:hasDbXref icd11:5C63.0 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref MESH:D018370 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:116920 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:266265 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref OMIM:612840 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref UMLS:C5550999 semapv:UnspecifiedMatching +Orphanet:2968 Leukocyte adhesion deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching +Orphanet:2969 Proteus-like syndrome oboInOwl:hasDbXref UMLS:C1866398 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.0 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.0 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.1 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.1 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.8 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref ICD10:A84.9 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref MESH:D004675 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref MedDRA:10043848 semapv:UnspecifiedMatching +Orphanet:297 Tick-borne encephalitis oboInOwl:hasDbXref UMLS:C0014061 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref ICD10:Q79.4 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref MESH:D011535 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref MedDRA:10051025 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref OMIM:100100 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref UMLS:C0033770 semapv:UnspecifiedMatching +Orphanet:2970 Prune belly syndrome oboInOwl:hasDbXref icd11:LD2F.10 semapv:UnspecifiedMatching +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MESH:C536662 semapv:UnspecifiedMatching +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref OMIM:264470 semapv:UnspecifiedMatching +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C1849678 semapv:UnspecifiedMatching +Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref ICD10:K07.0 semapv:UnspecifiedMatching +Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref MESH:C537496 semapv:UnspecifiedMatching +Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref OMIM:273050 semapv:UnspecifiedMatching +Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome oboInOwl:hasDbXref UMLS:C2931509 semapv:UnspecifiedMatching +Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching +Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref UMLS:C4518078 semapv:UnspecifiedMatching +Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q56.2 semapv:UnspecifiedMatching +Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:264270 semapv:UnspecifiedMatching +Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4518077 semapv:UnspecifiedMatching +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref MESH:C536310 semapv:UnspecifiedMatching +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref OMIM:169170 semapv:UnspecifiedMatching +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type oboInOwl:hasDbXref UMLS:C1868546 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:243180 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:601223 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:609629 semapv:UnspecifiedMatching +Orphanet:2978 Chronic intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C0238062 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref MedDRA:10065271 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:603041 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:613662 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref OMIM:619780 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref UMLS:C0872218 semapv:UnspecifiedMatching +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:2980 Acrootoocular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2980 Acrootoocular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2980 Acrootoocular syndrome oboInOwl:hasDbXref MESH:C564866 semapv:UnspecifiedMatching +Orphanet:2980 Acrootoocular syndrome oboInOwl:hasDbXref OMIM:264475 semapv:UnspecifiedMatching +Orphanet:2980 Acrootoocular syndrome oboInOwl:hasDbXref UMLS:C1849661 semapv:UnspecifiedMatching +Orphanet:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref MESH:C535818 semapv:UnspecifiedMatching +Orphanet:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref UMLS:C1533628 semapv:UnspecifiedMatching +Orphanet:2982 46,XX difference of sex development oboInOwl:hasDbXref MESH:D058489 semapv:UnspecifiedMatching +Orphanet:2982 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C2936403 semapv:UnspecifiedMatching +Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref MESH:C537594 semapv:UnspecifiedMatching +Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref UMLS:C2931542 semapv:UnspecifiedMatching +Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q56.3 semapv:UnspecifiedMatching +Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536539 semapv:UnspecifiedMatching +Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref OMIM:600122 semapv:UnspecifiedMatching +Orphanet:2983 Difference of sex development-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931233 semapv:UnspecifiedMatching +Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref MESH:C563111 semapv:UnspecifiedMatching +Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref OMIM:200130 semapv:UnspecifiedMatching +Orphanet:2985 Pseudoprogeria syndrome oboInOwl:hasDbXref UMLS:C0796125 semapv:UnspecifiedMatching +Orphanet:298644 Disorder of thiamine metabolism and transport oboInOwl:hasDbXref UMLS:C5681092 semapv:UnspecifiedMatching +Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref MESH:C566738 semapv:UnspecifiedMatching +Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref OMIM:178200 semapv:UnspecifiedMatching +Orphanet:2987 Antecubital pterygium syndrome oboInOwl:hasDbXref UMLS:C1867439 semapv:UnspecifiedMatching +Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref MESH:C535831 semapv:UnspecifiedMatching +Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref OMIM:600159 semapv:UnspecifiedMatching +Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome oboInOwl:hasDbXref UMLS:C1838562 semapv:UnspecifiedMatching +Orphanet:2989 Familial pterygium of the conjunctiva oboInOwl:hasDbXref ICD10:H11.0 semapv:UnspecifiedMatching +Orphanet:2989 Familial pterygium of the conjunctiva oboInOwl:hasDbXref ICD10:H11.0 semapv:UnspecifiedMatching +Orphanet:2989 Familial pterygium of the conjunctiva oboInOwl:hasDbXref OMIM:178000 semapv:UnspecifiedMatching +Orphanet:2989 Familial pterygium of the conjunctiva oboInOwl:hasDbXref UMLS:C4274782 semapv:UnspecifiedMatching +Orphanet:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref OMIM:265000 semapv:UnspecifiedMatching +Orphanet:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref OMIM:618469 semapv:UnspecifiedMatching +Orphanet:2990 Autosomal recessive multiple pterygium syndrome oboInOwl:hasDbXref icd11:LD26.40 semapv:UnspecifiedMatching +Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref MESH:C535844 semapv:UnspecifiedMatching +Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref OMIM:177980 semapv:UnspecifiedMatching +Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1867443 semapv:UnspecifiedMatching +Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching +Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref OMIM:614583 semapv:UnspecifiedMatching +Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome oboInOwl:hasDbXref UMLS:C5680770 semapv:UnspecifiedMatching +Orphanet:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref ICD10:J38.0 semapv:UnspecifiedMatching +Orphanet:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref MESH:C536923 semapv:UnspecifiedMatching +Orphanet:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref OMIM:193240 semapv:UnspecifiedMatching +Orphanet:2997 Ptosis-vocal cord paralysis syndrome oboInOwl:hasDbXref UMLS:C1860403 semapv:UnspecifiedMatching +Orphanet:2998 Carnevale syndrome oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching +Orphanet:2998 Carnevale syndrome oboInOwl:hasDbXref UMLS:C0796279 semapv:UnspecifiedMatching +Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref ICD10:Q10.0 semapv:UnspecifiedMatching +Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref ICD10:Q10.0 semapv:UnspecifiedMatching +Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref OMIM:178330 semapv:UnspecifiedMatching +Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome oboInOwl:hasDbXref UMLS:C4511968 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref MESH:C537136 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref MedDRA:10052621 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref OMIM:258900 semapv:UnspecifiedMatching +Orphanet:30 Hereditary orotic aciduria oboInOwl:hasDbXref UMLS:C0220987 semapv:UnspecifiedMatching +Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref OMIM:261515 semapv:UnspecifiedMatching +Orphanet:300 Bifunctional enzyme deficiency oboInOwl:hasDbXref UMLS:C0342870 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref ICD10:E30.1 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref MedDRA:10063654 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching +Orphanet:3000 Familial peripheral male-limited precocious puberty oboInOwl:hasDbXref UMLS:C0342549 semapv:UnspecifiedMatching +Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency oboInOwl:hasDbXref OMIM:614557 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref ICD10:D69.3 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref MedDRA:10083842 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref OMIM:188030 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref UMLS:C0398650 semapv:UnspecifiedMatching +Orphanet:3002 Immune thrombocytopenia oboInOwl:hasDbXref icd11:3B64.10 semapv:UnspecifiedMatching +Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref OMIM:612394 semapv:UnspecifiedMatching +Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency oboInOwl:hasDbXref UMLS:C4706393 semapv:UnspecifiedMatching +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref OMIM:614480 semapv:UnspecifiedMatching +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref OMIM:619324 semapv:UnspecifiedMatching +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis oboInOwl:hasDbXref UMLS:C4751115 semapv:UnspecifiedMatching +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref OMIM:615234 semapv:UnspecifiedMatching +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts oboInOwl:hasDbXref UMLS:C4511137 semapv:UnspecifiedMatching +Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref MESH:C536251 semapv:UnspecifiedMatching +Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref OMIM:265880 semapv:UnspecifiedMatching +Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref UMLS:C1849523 semapv:UnspecifiedMatching +Orphanet:3003 Pyknoachondrogenesis oboInOwl:hasDbXref icd11:FB82.Y semapv:UnspecifiedMatching +Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:300305 11p15.4 microduplication syndrome oboInOwl:hasDbXref UMLS:C4749508 semapv:UnspecifiedMatching +Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref OMIM:614482 semapv:UnspecifiedMatching +Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome oboInOwl:hasDbXref UMLS:C4751114 semapv:UnspecifiedMatching +Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching +Orphanet:300319 Charcot-Marie-Tooth disease type 2P oboInOwl:hasDbXref UMLS:C3280797 semapv:UnspecifiedMatching +Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref MESH:C564707 semapv:UnspecifiedMatching +Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref OMIM:606445 semapv:UnspecifiedMatching +Orphanet:300324 Persistent polyclonal B-cell lymphocytosis oboInOwl:hasDbXref UMLS:C1847973 semapv:UnspecifiedMatching +Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:N08.2 semapv:UnspecifiedMatching +Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:N08.2 semapv:UnspecifiedMatching +Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:609057 semapv:UnspecifiedMatching +Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5679989 semapv:UnspecifiedMatching +Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching +Orphanet:300345 Autosomal systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C4750787 semapv:UnspecifiedMatching +Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching +Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching +Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref OMIM:614468 semapv:UnspecifiedMatching +Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation oboInOwl:hasDbXref UMLS:C4722480 semapv:UnspecifiedMatching +Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching +Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref OMIM:300942 semapv:UnspecifiedMatching +Orphanet:300373 X-linked acrogigantism oboInOwl:hasDbXref UMLS:C4751112 semapv:UnspecifiedMatching +Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:616914 semapv:UnspecifiedMatching +Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome oboInOwl:hasDbXref UMLS:C4751111 semapv:UnspecifiedMatching +Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref ICD10:C75.1 semapv:UnspecifiedMatching +Orphanet:300385 Pituitary carcinoma oboInOwl:hasDbXref UMLS:C0346300 semapv:UnspecifiedMatching +Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref UMLS:C4275100 semapv:UnspecifiedMatching +Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref UMLS:C5681093 semapv:UnspecifiedMatching +Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref OMIM:300868 semapv:UnspecifiedMatching +Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref UMLS:C4751110 semapv:UnspecifiedMatching +Orphanet:3005 Pyle disease oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:3005 Pyle disease oboInOwl:hasDbXref MESH:C536252 semapv:UnspecifiedMatching +Orphanet:3005 Pyle disease oboInOwl:hasDbXref OMIM:265900 semapv:UnspecifiedMatching +Orphanet:3005 Pyle disease oboInOwl:hasDbXref UMLS:C0265294 semapv:UnspecifiedMatching +Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref UMLS:C4751109 semapv:UnspecifiedMatching +Orphanet:300504 Onychocytic matricoma oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:300504 Onychocytic matricoma oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:300504 Onychocytic matricoma oboInOwl:hasDbXref UMLS:C4751108 semapv:UnspecifiedMatching +Orphanet:300512 Onychomatricoma oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:300512 Onychomatricoma oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:300512 Onychomatricoma oboInOwl:hasDbXref UMLS:C4751078 semapv:UnspecifiedMatching +Orphanet:300515 Rare nail tumor oboInOwl:hasDbXref UMLS:C5681082 semapv:UnspecifiedMatching +Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref OMIM:614495 semapv:UnspecifiedMatching +Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref OMIM:614496 semapv:UnspecifiedMatching +Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref OMIM:614507 semapv:UnspecifiedMatching +Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref UMLS:C3281084 semapv:UnspecifiedMatching +Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:143880 semapv:UnspecifiedMatching +Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref OMIM:616963 semapv:UnspecifiedMatching +Orphanet:300547 Autosomal recessive infantile hypercalcemia oboInOwl:hasDbXref UMLS:C4329374 semapv:UnspecifiedMatching +Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:300552 Follicular cholangitis and pancreatitis oboInOwl:hasDbXref UMLS:C4749906 semapv:UnspecifiedMatching +Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching +Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref MedDRA:10048853 semapv:UnspecifiedMatching +Orphanet:300557 Carcinoma of the ampulla of Vater oboInOwl:hasDbXref UMLS:C0262401 semapv:UnspecifiedMatching +Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref MedDRA:10076515 semapv:UnspecifiedMatching +Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome oboInOwl:hasDbXref UMLS:C3872815 semapv:UnspecifiedMatching +Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref OMIM:614039 semapv:UnspecifiedMatching +Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation oboInOwl:hasDbXref UMLS:C5191309 semapv:UnspecifiedMatching +Orphanet:300573 Polymicrogyria due to TUBB2B mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:300573 Polymicrogyria due to TUBB2B mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:300573 Polymicrogyria due to TUBB2B mutation oboInOwl:hasDbXref OMIM:610031 semapv:UnspecifiedMatching +Orphanet:300573 Polymicrogyria due to TUBB2B mutation oboInOwl:hasDbXref UMLS:C5681081 semapv:UnspecifiedMatching +Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C19 semapv:UnspecifiedMatching +Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C19 semapv:UnspecifiedMatching +Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref OMIM:608615 semapv:UnspecifiedMatching +Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref UMLS:C4750788 semapv:UnspecifiedMatching +Orphanet:300576 Oligodontia-cancer predisposition syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:300579 Staphylococcal toxemia oboInOwl:hasDbXref MedDRA:10041932 semapv:UnspecifiedMatching +Orphanet:300579 Staphylococcal toxemia oboInOwl:hasDbXref UMLS:C0854511 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:266100 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:617290 semapv:UnspecifiedMatching +Orphanet:3006 Pyridoxine-dependent epilepsy oboInOwl:hasDbXref UMLS:C1849508 semapv:UnspecifiedMatching +Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205100 semapv:UnspecifiedMatching +Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:602099 semapv:UnspecifiedMatching +Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614373 semapv:UnspecifiedMatching +Orphanet:300605 Juvenile amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C3468114 semapv:UnspecifiedMatching +Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching +Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation oboInOwl:hasDbXref UMLS:C4707865 semapv:UnspecifiedMatching +Orphanet:300755 Laminopathy with striated muscle involvement oboInOwl:hasDbXref UMLS:C5681083 semapv:UnspecifiedMatching +Orphanet:300758 Laminopathy with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5681085 semapv:UnspecifiedMatching +Orphanet:300763 Laminopathy with lipodystrophy oboInOwl:hasDbXref UMLS:C5681084 semapv:UnspecifiedMatching +Orphanet:300766 Laminopathy with premature aging oboInOwl:hasDbXref UMLS:C5567864 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MESH:D015324 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref MedDRA:10077944 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching +Orphanet:3008 Pyruvate carboxylase deficiency oboInOwl:hasDbXref UMLS:C0034341 semapv:UnspecifiedMatching +Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C5419078 semapv:UnspecifiedMatching +Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C5555120 semapv:UnspecifiedMatching +Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref UMLS:C2026186 semapv:UnspecifiedMatching +Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref icd11:2A81.5 semapv:UnspecifiedMatching +Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref UMLS:C1321547 semapv:UnspecifiedMatching +Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref icd11:2A81.4 semapv:UnspecifiedMatching +Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma oboInOwl:hasDbXref icd11:XH0WP6 semapv:UnspecifiedMatching +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref MESH:D054446 semapv:UnspecifiedMatching +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref MedDRA:10065863 semapv:UnspecifiedMatching +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1301362 semapv:UnspecifiedMatching +Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma oboInOwl:hasDbXref UMLS:C2699508 semapv:UnspecifiedMatching +Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching +Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching +Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref MedDRA:10019054 semapv:UnspecifiedMatching +Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref UMLS:C0349633 semapv:UnspecifiedMatching +Orphanet:300878 Hairy cell leukemia variant oboInOwl:hasDbXref icd11:2A82.3 semapv:UnspecifiedMatching +Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation oboInOwl:hasDbXref UMLS:C4511460 semapv:UnspecifiedMatching +Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching +Orphanet:300895 ALK-positive anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1332079 semapv:UnspecifiedMatching +Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching +Orphanet:300903 ALK-negative anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C1332078 semapv:UnspecifiedMatching +Orphanet:300912 Marginal zone lymphoma oboInOwl:hasDbXref MESH:D018442 semapv:UnspecifiedMatching +Orphanet:300912 Marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0242647 semapv:UnspecifiedMatching +Orphanet:301 Ependymal tumor oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching +Orphanet:301 Ependymal tumor oboInOwl:hasDbXref UMLS:C1333407 semapv:UnspecifiedMatching +Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref MESH:C536259 semapv:UnspecifiedMatching +Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref OMIM:600096 semapv:UnspecifiedMatching +Orphanet:3010 Qazi-Markouizos syndrome oboInOwl:hasDbXref UMLS:C2931142 semapv:UnspecifiedMatching +Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching +Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:270950 semapv:UnspecifiedMatching +Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4509974 semapv:UnspecifiedMatching +Orphanet:3015 Radio-renal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3015 Radio-renal syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3015 Radio-renal syndrome oboInOwl:hasDbXref MESH:C536267 semapv:UnspecifiedMatching +Orphanet:3015 Radio-renal syndrome oboInOwl:hasDbXref OMIM:179280 semapv:UnspecifiedMatching +Orphanet:3015 Radio-renal syndrome oboInOwl:hasDbXref UMLS:C2931146 semapv:UnspecifiedMatching +Orphanet:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref MESH:C535281 semapv:UnspecifiedMatching +Orphanet:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref OMIM:312190 semapv:UnspecifiedMatching +Orphanet:3016 Absent radius-anogenital anomalies syndrome oboInOwl:hasDbXref UMLS:C4749807 semapv:UnspecifiedMatching +Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching +Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching +Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref MESH:C535283 semapv:UnspecifiedMatching +Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref OMIM:277175 semapv:UnspecifiedMatching +Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome oboInOwl:hasDbXref UMLS:C4510224 semapv:UnspecifiedMatching +Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref MESH:C535285 semapv:UnspecifiedMatching +Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref OMIM:266270 semapv:UnspecifiedMatching +Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref UMLS:C0796133 semapv:UnspecifiedMatching +Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MedDRA:10052339 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:226400 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:305350 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618231 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618267 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618309 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching +Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref icd11:1E83 semapv:UnspecifiedMatching +Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ semapv:UnspecifiedMatching +Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:G53.0* semapv:UnspecifiedMatching +Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref UMLS:C0017409 semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref MESH:C535288 semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref MedDRA:10088963 semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref OMIM:266280 semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref UMLS:C1849453 semapv:UnspecifiedMatching +Orphanet:3021 RAPADILINO syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching +Orphanet:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching +Orphanet:3022 Rapp-Hodgkin syndrome oboInOwl:hasDbXref UMLS:C1785148 semapv:UnspecifiedMatching +Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref MESH:C535290 semapv:UnspecifiedMatching +Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref OMIM:133705 semapv:UnspecifiedMatching +Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome oboInOwl:hasDbXref UMLS:C2930867 semapv:UnspecifiedMatching +Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref MESH:C537280 semapv:UnspecifiedMatching +Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref OMIM:179270 semapv:UnspecifiedMatching +Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome oboInOwl:hasDbXref UMLS:C2931464 semapv:UnspecifiedMatching +Orphanet:3027 Caudal regression syndrome oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:3027 Caudal regression syndrome oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:3027 Caudal regression syndrome oboInOwl:hasDbXref MedDRA:10059387 semapv:UnspecifiedMatching +Orphanet:3027 Caudal regression syndrome oboInOwl:hasDbXref OMIM:600145 semapv:UnspecifiedMatching +Orphanet:3027 Caudal regression syndrome oboInOwl:hasDbXref UMLS:C0300948 semapv:UnspecifiedMatching +Orphanet:3027 Caudal regression syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3029 NON RARE IN EUROPE: Horseshoe kidney oboInOwl:hasDbXref ICD10:Q63.1 semapv:UnspecifiedMatching +Orphanet:3029 NON RARE IN EUROPE: Horseshoe kidney oboInOwl:hasDbXref ICD10:Q63.1 semapv:UnspecifiedMatching +Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref MESH:D016108 semapv:UnspecifiedMatching +Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079294 semapv:UnspecifiedMatching +Orphanet:303 Dystrophic epidermolysis bullosa oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching +Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching +Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref UMLS:C2673885 semapv:UnspecifiedMatching +Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref OMIM:267430 semapv:UnspecifiedMatching +Orphanet:3033 Renal tubular dysgenesis oboInOwl:hasDbXref UMLS:C0266313 semapv:UnspecifiedMatching +Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref MESH:C563592 semapv:UnspecifiedMatching +Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref OMIM:155980 semapv:UnspecifiedMatching +Orphanet:3034 Delayed membranous cranial ossification oboInOwl:hasDbXref UMLS:C1835030 semapv:UnspecifiedMatching +Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref MESH:C535406 semapv:UnspecifiedMatching +Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref OMIM:236640 semapv:UnspecifiedMatching +Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome oboInOwl:hasDbXref UMLS:C1856052 semapv:UnspecifiedMatching +Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref MESH:C536146 semapv:UnspecifiedMatching +Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref OMIM:182875 semapv:UnspecifiedMatching +Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome oboInOwl:hasDbXref UMLS:C2931119 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref ICD10:Q44.2 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref MedDRA:10004654 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref OMIM:210500 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref UMLS:C5680082 semapv:UnspecifiedMatching +Orphanet:30391 Isolated biliary atresia oboInOwl:hasDbXref icd11:LB20.21 semapv:UnspecifiedMatching +Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref MESH:D016110 semapv:UnspecifiedMatching +Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0079298 semapv:UnspecifiedMatching +Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:304055 Pituitary tumor oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching +Orphanet:304055 Pituitary tumor oboInOwl:hasDbXref UMLS:C0032019 semapv:UnspecifiedMatching +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref MESH:C536638 semapv:UnspecifiedMatching +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref OMIM:300977 semapv:UnspecifiedMatching +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome oboInOwl:hasDbXref UMLS:C1866985 semapv:UnspecifiedMatching +Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref MESH:C536420 semapv:UnspecifiedMatching +Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref OMIM:259050 semapv:UnspecifiedMatching +Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome oboInOwl:hasDbXref UMLS:C0796121 semapv:UnspecifiedMatching +Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref MESH:C537447 semapv:UnspecifiedMatching +Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref OMIM:249599 semapv:UnspecifiedMatching +Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome oboInOwl:hasDbXref UMLS:C1855303 semapv:UnspecifiedMatching +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref MESH:C536717 semapv:UnspecifiedMatching +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref OMIM:603736 semapv:UnspecifiedMatching +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref UMLS:C1863557 semapv:UnspecifiedMatching +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching +Orphanet:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref MESH:D016109 semapv:UnspecifiedMatching +Orphanet:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079301 semapv:UnspecifiedMatching +Orphanet:305 Junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching +Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref MESH:C536116 semapv:UnspecifiedMatching +Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref OMIM:601358 semapv:UnspecifiedMatching +Orphanet:3051 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref UMLS:C1303073 semapv:UnspecifiedMatching +Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref MESH:C536978 semapv:UnspecifiedMatching +Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref OMIM:309480 semapv:UnspecifiedMatching +Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome oboInOwl:hasDbXref UMLS:C2931381 semapv:UnspecifiedMatching +Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref MESH:C536715 semapv:UnspecifiedMatching +Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome oboInOwl:hasDbXref UMLS:C0796264 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref MESH:C563156 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref MedDRA:10081371 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref OMIM:300615 semapv:UnspecifiedMatching +Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref UMLS:C0796275 semapv:UnspecifiedMatching +Orphanet:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:601764 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:605751 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:612627 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:617080 semapv:UnspecifiedMatching +Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref icd11:8A61.10 semapv:UnspecifiedMatching +Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref MESH:C536678 semapv:UnspecifiedMatching +Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref OMIM:309583 semapv:UnspecifiedMatching +Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref UMLS:C0796160 semapv:UnspecifiedMatching +Orphanet:3063 X-linked intellectual disability, Snyder type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies oboInOwl:hasDbXref UMLS:C5191336 semapv:UnspecifiedMatching +Orphanet:306498 PTEN hamartoma tumor syndrome oboInOwl:hasDbXref UMLS:C1959582 semapv:UnspecifiedMatching +Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref OMIM:614748 semapv:UnspecifiedMatching +Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome oboInOwl:hasDbXref UMLS:C4518785 semapv:UnspecifiedMatching +Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome oboInOwl:hasDbXref OMIM:614199 semapv:UnspecifiedMatching +Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref OMIM:613647 semapv:UnspecifiedMatching +Orphanet:306511 Autosomal recessive spastic paraplegia type 48 oboInOwl:hasDbXref UMLS:C3150901 semapv:UnspecifiedMatching +Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis oboInOwl:hasDbXref UMLS:C5679977 semapv:UnspecifiedMatching +Orphanet:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref OMIM:601471 semapv:UnspecifiedMatching +Orphanet:306527 Isolated hereditary congenital facial paralysis oboInOwl:hasDbXref UMLS:C4518577 semapv:UnspecifiedMatching +Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref OMIM:604185 semapv:UnspecifiedMatching +Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref OMIM:614744 semapv:UnspecifiedMatching +Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome oboInOwl:hasDbXref UMLS:C4302592 semapv:UnspecifiedMatching +Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome oboInOwl:hasDbXref OMIM:613456 semapv:UnspecifiedMatching +Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome oboInOwl:hasDbXref UMLS:C4751077 semapv:UnspecifiedMatching +Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome oboInOwl:hasDbXref OMIM:613730 semapv:UnspecifiedMatching +Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome oboInOwl:hasDbXref UMLS:C4751076 semapv:UnspecifiedMatching +Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref OMIM:613759 semapv:UnspecifiedMatching +Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref UMLS:C4509831 semapv:UnspecifiedMatching +Orphanet:306550 FADD-related immunodeficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching +Orphanet:306553 Myospherulosis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching +Orphanet:306553 Myospherulosis oboInOwl:hasDbXref UMLS:C0027123 semapv:UnspecifiedMatching +Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:614231 semapv:UnspecifiedMatching +Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref OMIM:619278 semapv:UnspecifiedMatching +Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome oboInOwl:hasDbXref UMLS:C5190632 semapv:UnspecifiedMatching +Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy oboInOwl:hasDbXref ICD10:G99.1 semapv:UnspecifiedMatching +Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy oboInOwl:hasDbXref ICD10:G99.1 semapv:UnspecifiedMatching +Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching +Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy oboInOwl:hasDbXref OMIM:615551 semapv:UnspecifiedMatching +Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy oboInOwl:hasDbXref UMLS:C5190631 semapv:UnspecifiedMatching +Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5679980 semapv:UnspecifiedMatching +Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5679979 semapv:UnspecifiedMatching +Orphanet:306640 Rare intoxication due to medical products oboInOwl:hasDbXref UMLS:C5681088 semapv:UnspecifiedMatching +Orphanet:306644 Complication after organ transplantation oboInOwl:hasDbXref ICD10:T86.8 semapv:UnspecifiedMatching +Orphanet:306644 Complication after organ transplantation oboInOwl:hasDbXref ICD10:T86.8 semapv:UnspecifiedMatching +Orphanet:306644 Complication after organ transplantation oboInOwl:hasDbXref UMLS:C5681087 semapv:UnspecifiedMatching +Orphanet:306648 Non-infectious anterior uveitis oboInOwl:hasDbXref UMLS:C0339317 semapv:UnspecifiedMatching +Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching +Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching +Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref MESH:C566473 semapv:UnspecifiedMatching +Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching +Orphanet:306658 Familial normophosphatemic tumoral calcinosis oboInOwl:hasDbXref UMLS:C1864861 semapv:UnspecifiedMatching +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:617993 semapv:UnspecifiedMatching +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref OMIM:617994 semapv:UnspecifiedMatching +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome oboInOwl:hasDbXref UMLS:C5679978 semapv:UnspecifiedMatching +Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681086 semapv:UnspecifiedMatching +Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome oboInOwl:hasDbXref UMLS:C4545231 semapv:UnspecifiedMatching +Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref MESH:C537177 semapv:UnspecifiedMatching +Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching +Orphanet:306674 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS:C1847640 semapv:UnspecifiedMatching +Orphanet:306679 Rare parkinsonian syndrome due to intoxication oboInOwl:hasDbXref UMLS:C5681060 semapv:UnspecifiedMatching +Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref ICD10:T57.2 semapv:UnspecifiedMatching +Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref ICD10:T57.2 semapv:UnspecifiedMatching +Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref MESH:D020149 semapv:UnspecifiedMatching +Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref MedDRA:10058951 semapv:UnspecifiedMatching +Orphanet:306682 Manganese poisoning oboInOwl:hasDbXref UMLS:C0677050 semapv:UnspecifiedMatching +Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching +Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching +Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning oboInOwl:hasDbXref UMLS:C0393565 semapv:UnspecifiedMatching +Orphanet:306692 Cyanide-induced parkinsonism-dystonia oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching +Orphanet:306692 Cyanide-induced parkinsonism-dystonia oboInOwl:hasDbXref ICD10:G21.2 semapv:UnspecifiedMatching +Orphanet:306692 Cyanide-induced parkinsonism-dystonia oboInOwl:hasDbXref UMLS:C4707859 semapv:UnspecifiedMatching +Orphanet:306692 Cyanide-induced parkinsonism-dystonia oboInOwl:hasDbXref icd11:8A00.2Y semapv:UnspecifiedMatching +Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681062 semapv:UnspecifiedMatching +Orphanet:306708 Frontotemporal neurodegeneration with movement disorder oboInOwl:hasDbXref UMLS:C5681061 semapv:UnspecifiedMatching +Orphanet:306712 Rare tremor disorder oboInOwl:hasDbXref UMLS:C5681066 semapv:UnspecifiedMatching +Orphanet:306715 Rare choreic movement disorder oboInOwl:hasDbXref UMLS:C5681065 semapv:UnspecifiedMatching +Orphanet:306719 Neurodegenerative disease with chorea oboInOwl:hasDbXref UMLS:C5681064 semapv:UnspecifiedMatching +Orphanet:306727 Postinfectious autoimmune disease with chorea oboInOwl:hasDbXref UMLS:C5681063 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.0 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.0 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref ICD10:I02.9 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref MedDRA:10042732 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref UMLS:C0152113 semapv:UnspecifiedMatching +Orphanet:306731 Sydenham chorea oboInOwl:hasDbXref icd11:1B42 semapv:UnspecifiedMatching +Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref OMIM:614588 semapv:UnspecifiedMatching +Orphanet:306734 Primary dystonia, DYT21 type oboInOwl:hasDbXref UMLS:C3281236 semapv:UnspecifiedMatching +Orphanet:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:306741 Hemidystonia-hemiatrophy syndrome oboInOwl:hasDbXref UMLS:C4510649 semapv:UnspecifiedMatching +Orphanet:306747 Rare myoclonus oboInOwl:hasDbXref UMLS:C5681067 semapv:UnspecifiedMatching +Orphanet:306750 Primary myoclonus oboInOwl:hasDbXref UMLS:C5681052 semapv:UnspecifiedMatching +Orphanet:306753 Rare disease with myoclonus as a major feature oboInOwl:hasDbXref UMLS:C5681053 semapv:UnspecifiedMatching +Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature oboInOwl:hasDbXref UMLS:C5681050 semapv:UnspecifiedMatching +Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature oboInOwl:hasDbXref UMLS:C5681051 semapv:UnspecifiedMatching +Orphanet:306765 Motor stereotypies oboInOwl:hasDbXref MESH:D013239 semapv:UnspecifiedMatching +Orphanet:306768 Rare paroxysmal movement disorder oboInOwl:hasDbXref UMLS:C5681054 semapv:UnspecifiedMatching +Orphanet:306773 Hyperekplexia oboInOwl:hasDbXref MESH:D000071017 semapv:UnspecifiedMatching +Orphanet:306773 Hyperekplexia oboInOwl:hasDbXref MedDRA:10058271 semapv:UnspecifiedMatching +Orphanet:306776 Sporadic hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:306776 Sporadic hyperekplexia oboInOwl:hasDbXref UMLS:C5191042 semapv:UnspecifiedMatching +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref MESH:C535458 semapv:UnspecifiedMatching +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref OMIM:253320 semapv:UnspecifiedMatching +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref UMLS:C1854663 semapv:UnspecifiedMatching +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref MedDRA:10071082 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:604827 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:607628 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:607682 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:608816 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:611136 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:611364 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:613060 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:614280 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:617924 semapv:UnspecifiedMatching +Orphanet:307 Juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0270853 semapv:UnspecifiedMatching +Orphanet:307052 Rare genetic parkinsonian disorder oboInOwl:hasDbXref UMLS:C5679955 semapv:UnspecifiedMatching +Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681055 semapv:UnspecifiedMatching +Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease oboInOwl:hasDbXref UMLS:C5681056 semapv:UnspecifiedMatching +Orphanet:307061 Rare genetic tremor disorder oboInOwl:hasDbXref UMLS:C5681058 semapv:UnspecifiedMatching +Orphanet:307064 Rare genetic myoclonus oboInOwl:hasDbXref UMLS:C5681059 semapv:UnspecifiedMatching +Orphanet:307067 Rare genetic disease with myoclonus as a major feature oboInOwl:hasDbXref UMLS:C5681057 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref MESH:D056685 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref MedDRA:10067380 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref OMIM:218040 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref UMLS:C0587248 semapv:UnspecifiedMatching +Orphanet:3071 Costello syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:307141 Diffuse palmoplantar keratoderma oboInOwl:hasDbXref MESH:D015776 semapv:UnspecifiedMatching +Orphanet:307141 Diffuse palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0022584 semapv:UnspecifiedMatching +Orphanet:307141 Diffuse palmoplantar keratoderma oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:307148 Isolated diffuse palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679959 semapv:UnspecifiedMatching +Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboInOwl:hasDbXref UMLS:C4749650 semapv:UnspecifiedMatching +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10:F71.1 semapv:UnspecifiedMatching +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref OMIM:300055 semapv:UnspecifiedMatching +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref UMLS:C3713418 semapv:UnspecifiedMatching +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679958 semapv:UnspecifiedMatching +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref MESH:C536220 semapv:UnspecifiedMatching +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref OMIM:607656 semapv:UnspecifiedMatching +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref UMLS:C1843291 semapv:UnspecifiedMatching +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679961 semapv:UnspecifiedMatching +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref ICD10:F72.9 semapv:UnspecifiedMatching +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref ICD10:F72.9 semapv:UnspecifiedMatching +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref OMIM:309555 semapv:UnspecifiedMatching +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref UMLS:C4302744 semapv:UnspecifiedMatching +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679960 semapv:UnspecifiedMatching +Orphanet:307837 Focal palmoplantar keratoderma oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching +Orphanet:307846 Isolated focal palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679962 semapv:UnspecifiedMatching +Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679963 semapv:UnspecifiedMatching +Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref MESH:C563095 semapv:UnspecifiedMatching +Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref OMIM:249630 semapv:UnspecifiedMatching +Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref UMLS:C0796080 semapv:UnspecifiedMatching +Orphanet:3079 Intellectual disability, Buenos-Aires type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref MESH:C564357 semapv:UnspecifiedMatching +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607658 semapv:UnspecifiedMatching +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C1843285 semapv:UnspecifiedMatching +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching +Orphanet:307967 Punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1274216 semapv:UnspecifiedMatching +Orphanet:307995 Marginal papular palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5679964 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MESH:D020194 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref MedDRA:10054895 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:254800 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref OMIM:612437 semapv:UnspecifiedMatching +Orphanet:308 Progressive myoclonic epilepsy type 1 oboInOwl:hasDbXref UMLS:C0751785 semapv:UnspecifiedMatching +Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref MESH:C537448 semapv:UnspecifiedMatching +Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref OMIM:277990 semapv:UnspecifiedMatching +Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref UMLS:C1848439 semapv:UnspecifiedMatching +Orphanet:3080 Intellectual disability, Wolff type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:308013 Focal acral hyperkeratosis oboInOwl:hasDbXref UMLS:C1302839 semapv:UnspecifiedMatching +Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679965 semapv:UnspecifiedMatching +Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679967 semapv:UnspecifiedMatching +Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679966 semapv:UnspecifiedMatching +Orphanet:308166 Erythrokeratoderma variabilis progressiva oboInOwl:hasDbXref UMLS:C5681068 semapv:UnspecifiedMatching +Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref MESH:C537615 semapv:UnspecifiedMatching +Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome oboInOwl:hasDbXref UMLS:C2931547 semapv:UnspecifiedMatching +Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching +Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref UMLS:C5679956 semapv:UnspecifiedMatching +Orphanet:308380 Methylcobalamin deficiency type cblDv1 oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS:C5679957 semapv:UnspecifiedMatching +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref MESH:C565373 semapv:UnspecifiedMatching +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS:C1854989 semapv:UnspecifiedMatching +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref OMIM:268050 semapv:UnspecifiedMatching +Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref UMLS:C0796072 semapv:UnspecifiedMatching +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref MESH:C565374 semapv:UnspecifiedMatching +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref UMLS:C1854990 semapv:UnspecifiedMatching +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:308407 Disorder of beta and omega amino acid metabolism oboInOwl:hasDbXref UMLS:C0342707 semapv:UnspecifiedMatching +Orphanet:308407 Disorder of beta and omega amino acid metabolism oboInOwl:hasDbXref icd11:5C50.C semapv:UnspecifiedMatching +Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref OMIM:614923 semapv:UnspecifiedMatching +Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency oboInOwl:hasDbXref UMLS:C4749908 semapv:UnspecifiedMatching +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref OMIM:251120 semapv:UnspecifiedMatching +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref UMLS:C4707328 semapv:UnspecifiedMatching +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref UMLS:C5679970 semapv:UnspecifiedMatching +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:308448 Aminoacylase deficiency oboInOwl:hasDbXref UMLS:C5681074 semapv:UnspecifiedMatching +Orphanet:308459 Disorder of glycolysis oboInOwl:hasDbXref UMLS:C5681073 semapv:UnspecifiedMatching +Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref UMLS:C0342744 semapv:UnspecifiedMatching +Orphanet:308463 Disorder of fructose metabolism oboInOwl:hasDbXref icd11:5C51.5 semapv:UnspecifiedMatching +Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref UMLS:C0342745 semapv:UnspecifiedMatching +Orphanet:308467 Disorder of galactose metabolism oboInOwl:hasDbXref icd11:5C51.4 semapv:UnspecifiedMatching +Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching +Orphanet:308473 Erythrocyte galactose epimerase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching +Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching +Orphanet:308487 Generalized galactose epimerase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching +Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref OMIM:268020 semapv:UnspecifiedMatching +Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C5679580 semapv:UnspecifiedMatching +Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C5679973 semapv:UnspecifiedMatching +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref UMLS:C3888924 semapv:UnspecifiedMatching +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 semapv:UnspecifiedMatching +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS:C3888099 semapv:UnspecifiedMatching +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref UMLS:C5679972 semapv:UnspecifiedMatching +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref UMLS:C5679971 semapv:UnspecifiedMatching +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref MESH:C565541 semapv:UnspecifiedMatching +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref UMLS:C1856303 semapv:UnspecifiedMatching +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref MESH:C565542 semapv:UnspecifiedMatching +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref UMLS:C1856304 semapv:UnspecifiedMatching +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref UMLS:C5679969 semapv:UnspecifiedMatching +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref MESH:C565543 semapv:UnspecifiedMatching +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref UMLS:C1856305 semapv:UnspecifiedMatching +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:3087 Retinohepatoendocrinologic syndrome oboInOwl:hasDbXref OMIM:268040 semapv:UnspecifiedMatching +Orphanet:3087 Retinohepatoendocrinologic syndrome oboInOwl:hasDbXref UMLS:C1849399 semapv:UnspecifiedMatching +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref UMLS:C5679968 semapv:UnspecifiedMatching +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref MESH:C538371 semapv:UnspecifiedMatching +Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref OMIM:268130 semapv:UnspecifiedMatching +Orphanet:3088 Revesz syndrome oboInOwl:hasDbXref UMLS:C1327916 semapv:UnspecifiedMatching +Orphanet:308993 Glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0268418 semapv:UnspecifiedMatching +Orphanet:308998 Disorder of glyoxylate metabolism oboInOwl:hasDbXref UMLS:C5681070 semapv:UnspecifiedMatching +Orphanet:308998 Disorder of glyoxylate metabolism oboInOwl:hasDbXref icd11:5C51.2 semapv:UnspecifiedMatching +Orphanet:309 Familial partial epilepsy oboInOwl:hasDbXref UMLS:C5680862 semapv:UnspecifiedMatching +Orphanet:3090 Congenital pulmonary venous return anomaly oboInOwl:hasDbXref MedDRA:10058079 semapv:UnspecifiedMatching +Orphanet:3090 Congenital pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C0265916 semapv:UnspecifiedMatching +Orphanet:309001 Disorder of carbohydrate absorption and transport oboInOwl:hasDbXref UMLS:C5681069 semapv:UnspecifiedMatching +Orphanet:309005 Disorder of lipid metabolism oboInOwl:hasDbXref MESH:D052439 semapv:UnspecifiedMatching +Orphanet:309005 Disorder of lipid metabolism oboInOwl:hasDbXref MedDRA:10061227 semapv:UnspecifiedMatching +Orphanet:309005 Disorder of lipid metabolism oboInOwl:hasDbXref UMLS:C0154251 semapv:UnspecifiedMatching +Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching +Orphanet:309015 Familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching +Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching +Orphanet:309020 Familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C0268199 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref MESH:D054078 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref MedDRA:10072221 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref OMIM:260920 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching +Orphanet:309025 Mevalonate kinase deficiency oboInOwl:hasDbXref UMLS:C0342731 semapv:UnspecifiedMatching +Orphanet:309028 Disorder of lipid absorption and transport oboInOwl:hasDbXref UMLS:C5681072 semapv:UnspecifiedMatching +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency oboInOwl:hasDbXref UMLS:C0268240 semapv:UnspecifiedMatching +Orphanet:3091 Congenital systemic veins anomaly oboInOwl:hasDbXref UMLS:C5680873 semapv:UnspecifiedMatching +Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching +Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching +Orphanet:309108 Pancreatic colipase deficiency oboInOwl:hasDbXref UMLS:C0268241 semapv:UnspecifiedMatching +Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref ICD10:K90.3 semapv:UnspecifiedMatching +Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref OMIM:614338 semapv:UnspecifiedMatching +Orphanet:309111 Combined pancreatic lipase-colipase deficiency oboInOwl:hasDbXref UMLS:C4706317 semapv:UnspecifiedMatching +Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis oboInOwl:hasDbXref UMLS:C5681071 semapv:UnspecifiedMatching +Orphanet:309120 Acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268635 semapv:UnspecifiedMatching +Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535310 semapv:UnspecifiedMatching +Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1291230 semapv:UnspecifiedMatching +Orphanet:309130 Disorder of carnitine cycle and carnitine transport oboInOwl:hasDbXref UMLS:C5681080 semapv:UnspecifiedMatching +Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder oboInOwl:hasDbXref UMLS:C5681079 semapv:UnspecifiedMatching +Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes oboInOwl:hasDbXref UMLS:C5681078 semapv:UnspecifiedMatching +Orphanet:309144 Gangliosidosis oboInOwl:hasDbXref MESH:D005733 semapv:UnspecifiedMatching +Orphanet:309144 Gangliosidosis oboInOwl:hasDbXref UMLS:C0017083 semapv:UnspecifiedMatching +Orphanet:309144 Gangliosidosis oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref MESH:C562684 semapv:UnspecifiedMatching +Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref OMIM:237400 semapv:UnspecifiedMatching +Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref UMLS:C0268630 semapv:UnspecifiedMatching +Orphanet:309147 Hyper-beta-alaninemia oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching +Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref MESH:D020143 semapv:UnspecifiedMatching +Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref MedDRA:10083933 semapv:UnspecifiedMatching +Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref UMLS:C0268274 semapv:UnspecifiedMatching +Orphanet:309152 GM2 gangliosidosis oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching +Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref UMLS:C0751490 semapv:UnspecifiedMatching +Orphanet:309155 Sandhoff disease, infantile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching +Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref UMLS:C0751491 semapv:UnspecifiedMatching +Orphanet:309162 Sandhoff disease, juvenile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching +Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref UMLS:C0751489 semapv:UnspecifiedMatching +Orphanet:309169 Sandhoff disease, adult form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching +Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref UMLS:C5679976 semapv:UnspecifiedMatching +Orphanet:309178 Tay-Sachs disease, infantile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching +Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref UMLS:C5679975 semapv:UnspecifiedMatching +Orphanet:309185 Tay-Sachs disease, juvenile form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching +Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref UMLS:C1848914 semapv:UnspecifiedMatching +Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching +Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching +Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref UMLS:C5680877 semapv:UnspecifiedMatching +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref MESH:C566593 semapv:UnspecifiedMatching +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref OMIM:602014 semapv:UnspecifiedMatching +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref UMLS:C1865974 semapv:UnspecifiedMatching +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching +Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching +Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 semapv:UnspecifiedMatching +Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref UMLS:C5680110 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref MESH:C566435 semapv:UnspecifiedMatching +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref UMLS:C1864651 semapv:UnspecifiedMatching +Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching +Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref UMLS:C0751278 semapv:UnspecifiedMatching +Orphanet:309256 Metachromatic leukodystrophy, late infantile form oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching +Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching +Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref UMLS:C0751276 semapv:UnspecifiedMatching +Orphanet:309263 Metachromatic leukodystrophy, juvenile form oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching +Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching +Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref UMLS:C0751279 semapv:UnspecifiedMatching +Orphanet:309271 Metachromatic leukodystrophy, adult form oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching +Orphanet:309279 Glycoproteinosis oboInOwl:hasDbXref UMLS:C5681075 semapv:UnspecifiedMatching +Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching +Orphanet:309282 Alpha-mannosidosis, infantile form oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching +Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref UMLS:C5679974 semapv:UnspecifiedMatching +Orphanet:309288 Alpha-mannosidosis, adult form oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:309294 Sialidosis oboInOwl:hasDbXref MedDRA:10058800 semapv:UnspecifiedMatching +Orphanet:309294 Sialidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching +Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref UMLS:C0086651 semapv:UnspecifiedMatching +Orphanet:309297 Mucopolysaccharidosis type 4A oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching +Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching +Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref MedDRA:10010371 semapv:UnspecifiedMatching +Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref UMLS:C0152417 semapv:UnspecifiedMatching +Orphanet:3093 Congenital aortic valve stenosis oboInOwl:hasDbXref icd11:LA8A.20 semapv:UnspecifiedMatching +Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching +Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref UMLS:C0086652 semapv:UnspecifiedMatching +Orphanet:309310 Mucopolysaccharidosis type 4B oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching +Orphanet:309319 Disorder of sialic acid metabolism oboInOwl:hasDbXref UMLS:C0342851 semapv:UnspecifiedMatching +Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref MedDRA:10067532 semapv:UnspecifiedMatching +Orphanet:309324 Free sialic acid storage disease, infantile form oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching +Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching +Orphanet:309331 Intermediate severe Salla disease oboInOwl:hasDbXref UMLS:C5681076 semapv:UnspecifiedMatching +Orphanet:309334 Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:309334 Salla disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:309334 Salla disease oboInOwl:hasDbXref MedDRA:10067531 semapv:UnspecifiedMatching +Orphanet:309334 Salla disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching +Orphanet:309334 Salla disease oboInOwl:hasDbXref UMLS:C1096903 semapv:UnspecifiedMatching +Orphanet:309337 Lysosomal glycogen storage disease oboInOwl:hasDbXref UMLS:C5681077 semapv:UnspecifiedMatching +Orphanet:309340 Disorder of lysosomal-related organelles oboInOwl:hasDbXref UMLS:C5681043 semapv:UnspecifiedMatching +Orphanet:309347 Disorder of protein N-glycosylation oboInOwl:hasDbXref UMLS:C5681044 semapv:UnspecifiedMatching +Orphanet:309347 Disorder of protein N-glycosylation oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:309447 Disorder of protein O-glycosylation oboInOwl:hasDbXref UMLS:C5681041 semapv:UnspecifiedMatching +Orphanet:309447 Disorder of protein O-glycosylation oboInOwl:hasDbXref icd11:5C54.1 semapv:UnspecifiedMatching +Orphanet:309450 Disorder of O-xylosylglycan synthesis oboInOwl:hasDbXref UMLS:C5681042 semapv:UnspecifiedMatching +Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis oboInOwl:hasDbXref UMLS:C5681047 semapv:UnspecifiedMatching +Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis oboInOwl:hasDbXref UMLS:C5681048 semapv:UnspecifiedMatching +Orphanet:309469 Disorder of O-mannosylglycan synthesis oboInOwl:hasDbXref UMLS:C5681045 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref MESH:C567576 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617903 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref OMIM:617904 semapv:UnspecifiedMatching +Orphanet:3095 Atypical Rett syndrome oboInOwl:hasDbXref UMLS:C2748910 semapv:UnspecifiedMatching +Orphanet:309505 Disorder of fucoglycosan synthesis oboInOwl:hasDbXref UMLS:C5681046 semapv:UnspecifiedMatching +Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation oboInOwl:hasDbXref UMLS:C5679954 semapv:UnspecifiedMatching +Orphanet:309526 Disorder of multiple glycosylation oboInOwl:hasDbXref UMLS:C5681039 semapv:UnspecifiedMatching +Orphanet:309526 Disorder of multiple glycosylation oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:309568 Defect in conserved oligomeric Golgi complex oboInOwl:hasDbXref UMLS:C5679953 semapv:UnspecifiedMatching +Orphanet:3096 Reye syndrome oboInOwl:hasDbXref ICD10:G93.7 semapv:UnspecifiedMatching +Orphanet:3096 Reye syndrome oboInOwl:hasDbXref ICD10:G93.7 semapv:UnspecifiedMatching +Orphanet:3096 Reye syndrome oboInOwl:hasDbXref MESH:D012202 semapv:UnspecifiedMatching +Orphanet:3096 Reye syndrome oboInOwl:hasDbXref MedDRA:10039012 semapv:UnspecifiedMatching +Orphanet:3096 Reye syndrome oboInOwl:hasDbXref UMLS:C0035400 semapv:UnspecifiedMatching +Orphanet:3096 Reye syndrome oboInOwl:hasDbXref icd11:8E46 semapv:UnspecifiedMatching +Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref MESH:C538162 semapv:UnspecifiedMatching +Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref OMIM:608978 semapv:UnspecifiedMatching +Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref UMLS:C1837026 semapv:UnspecifiedMatching +Orphanet:3097 Meacham syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:309778 Defect in V-ATPase oboInOwl:hasDbXref UMLS:C5681038 semapv:UnspecifiedMatching +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref MESH:C531651 semapv:UnspecifiedMatching +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref UMLS:C1859133 semapv:UnspecifiedMatching +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref MESH:C537607 semapv:UnspecifiedMatching +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref UMLS:C1857242 semapv:UnspecifiedMatching +Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref MESH:C537611 semapv:UnspecifiedMatching +Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref OMIM:268250 semapv:UnspecifiedMatching +Orphanet:3098 Rhizomelic syndrome, Urbach type oboInOwl:hasDbXref UMLS:C4749613 semapv:UnspecifiedMatching +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref MESH:C537608 semapv:UnspecifiedMatching +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref UMLS:C1838612 semapv:UnspecifiedMatching +Orphanet:309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation oboInOwl:hasDbXref UMLS:C5681040 semapv:UnspecifiedMatching +Orphanet:309816 Disorder of bilirubin metabolism and excretion oboInOwl:hasDbXref UMLS:C0349427 semapv:UnspecifiedMatching +Orphanet:309819 Disorder of pterin metabolism oboInOwl:hasDbXref UMLS:C5681034 semapv:UnspecifiedMatching +Orphanet:309819 Disorder of pterin metabolism oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching +Orphanet:309824 Disorder of metabolite absorption and transport oboInOwl:hasDbXref UMLS:C5681033 semapv:UnspecifiedMatching +Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport oboInOwl:hasDbXref UMLS:C5681037 semapv:UnspecifiedMatching +Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport oboInOwl:hasDbXref icd11:5C63 semapv:UnspecifiedMatching +Orphanet:309830 Disorder of catecholamine synthesis oboInOwl:hasDbXref UMLS:C0342685 semapv:UnspecifiedMatching +Orphanet:309830 Disorder of catecholamine synthesis oboInOwl:hasDbXref icd11:5C59.00 semapv:UnspecifiedMatching +Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport oboInOwl:hasDbXref UMLS:C5681036 semapv:UnspecifiedMatching +Orphanet:309836 Disorder of mineral absorption and transport oboInOwl:hasDbXref UMLS:C5681035 semapv:UnspecifiedMatching +Orphanet:309836 Disorder of mineral absorption and transport oboInOwl:hasDbXref icd11:5C64 semapv:UnspecifiedMatching +Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref MedDRA:10061091 semapv:UnspecifiedMatching +Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref UMLS:C0012714 semapv:UnspecifiedMatching +Orphanet:309839 Disorder of copper metabolism oboInOwl:hasDbXref icd11:5C64.0 semapv:UnspecifiedMatching +Orphanet:309842 Disorder of iron metabolism and transport oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:309842 Disorder of iron metabolism and transport oboInOwl:hasDbXref UMLS:C5681031 semapv:UnspecifiedMatching +Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref MedDRA:10048260 semapv:UnspecifiedMatching +Orphanet:309845 Disorder of zinc metabolism and transport oboInOwl:hasDbXref UMLS:C0268085 semapv:UnspecifiedMatching +Orphanet:309848 Disorder of magnesium transport oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:309848 Disorder of magnesium transport oboInOwl:hasDbXref UMLS:C5681030 semapv:UnspecifiedMatching +Orphanet:309851 Disorder of manganese transport oboInOwl:hasDbXref UMLS:C5681032 semapv:UnspecifiedMatching +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref MESH:C548016 semapv:UnspecifiedMatching +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:613280 semapv:UnspecifiedMatching +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome oboInOwl:hasDbXref UMLS:C2750442 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I00 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.0 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.0 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.1 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.1 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.2 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.2 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.8 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref ICD10:I01.9 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref MESH:D012213 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref MedDRA:10039054 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref OMIM:268240 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref UMLS:C0035436 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref icd11:1B40 semapv:UnspecifiedMatching +Orphanet:3099 Rheumatic fever oboInOwl:hasDbXref icd11:1B41 semapv:UnspecifiedMatching +Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref MESH:C536582 semapv:UnspecifiedMatching +Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref OMIM:203740 semapv:UnspecifiedMatching +Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref UMLS:C2752074 semapv:UnspecifiedMatching +Orphanet:31 Oxoglutaric aciduria oboInOwl:hasDbXref icd11:5C53.1 semapv:UnspecifiedMatching +Orphanet:310 Reflex epilepsy oboInOwl:hasDbXref MESH:D020195 semapv:UnspecifiedMatching +Orphanet:310 Reflex epilepsy oboInOwl:hasDbXref UMLS:C0270857 semapv:UnspecifiedMatching +Orphanet:310050 Acquired immunodeficiency oboInOwl:hasDbXref MESH:D000163 semapv:UnspecifiedMatching +Orphanet:310050 Acquired immunodeficiency oboInOwl:hasDbXref UMLS:C0001175 semapv:UnspecifiedMatching +Orphanet:310050 Acquired immunodeficiency oboInOwl:hasDbXref icd11:4A20 semapv:UnspecifiedMatching +Orphanet:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref MESH:C535675 semapv:UnspecifiedMatching +Orphanet:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref OMIM:255710 semapv:UnspecifiedMatching +Orphanet:3101 Richieri Costa-da Silva syndrome oboInOwl:hasDbXref UMLS:C2930978 semapv:UnspecifiedMatching +Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref MESH:C535677 semapv:UnspecifiedMatching +Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref OMIM:268305 semapv:UnspecifiedMatching +Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref UMLS:C1849348 semapv:UnspecifiedMatching +Orphanet:3102 Richieri Costa-Pereira syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref MedDRA:10084326 semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref UMLS:C0392475 semapv:UnspecifiedMatching +Orphanet:3103 Roberts syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref MESH:C535688 semapv:UnspecifiedMatching +Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref OMIM:172880 semapv:UnspecifiedMatching +Orphanet:3104 Robin sequence-oligodactyly syndrome oboInOwl:hasDbXref UMLS:C4749398 semapv:UnspecifiedMatching +Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref OMIM:248250 semapv:UnspecifiedMatching +Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching +Orphanet:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref MESH:C537183 semapv:UnspecifiedMatching +Orphanet:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching +Orphanet:3106 Robinow-Sorauf syndrome oboInOwl:hasDbXref UMLS:C1867146 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref UMLS:C5200540 semapv:UnspecifiedMatching +Orphanet:3107 Autosomal dominant Robinow syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref MedDRA:10065148 semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref UMLS:C1698581 semapv:UnspecifiedMatching +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome oboInOwl:hasDbXref icd11:LB44.Y semapv:UnspecifiedMatching +Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref MESH:C535870 semapv:UnspecifiedMatching +Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref OMIM:180730 semapv:UnspecifiedMatching +Orphanet:3110 Rombo syndrome oboInOwl:hasDbXref UMLS:C1867147 semapv:UnspecifiedMatching +Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref ICD10:E80.6 semapv:UnspecifiedMatching +Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref MedDRA:10039234 semapv:UnspecifiedMatching +Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref OMIM:237450 semapv:UnspecifiedMatching +Orphanet:3111 Rotor syndrome oboInOwl:hasDbXref UMLS:C0220991 semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:C538219 semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref MedDRA:10057070 semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching +Orphanet:31112 Dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS:C0392784 semapv:UnspecifiedMatching +Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref MESH:C536307 semapv:UnspecifiedMatching +Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref OMIM:168850 semapv:UnspecifiedMatching +Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome oboInOwl:hasDbXref UMLS:C1868581 semapv:UnspecifiedMatching +Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref OMIM:180800 semapv:UnspecifiedMatching +Orphanet:3115 Roussy-Lévy syndrome oboInOwl:hasDbXref UMLS:C0205713 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref MedDRA:10051875 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref OMIM:205400 semapv:UnspecifiedMatching +Orphanet:31150 Tangier disease oboInOwl:hasDbXref UMLS:C0039292 semapv:UnspecifiedMatching +Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MESH:D052456 semapv:UnspecifiedMatching +Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref MedDRA:10065156 semapv:UnspecifiedMatching +Orphanet:31153 Hypoalphalipoproteinemia oboInOwl:hasDbXref UMLS:C0473527 semapv:UnspecifiedMatching +Orphanet:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref MESH:D006995 semapv:UnspecifiedMatching +Orphanet:31154 Hypobetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020597 semapv:UnspecifiedMatching +Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref OMIM:268650 semapv:UnspecifiedMatching +Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref UMLS:C3502049 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref MESH:D017488 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:113800 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:607602 semapv:UnspecifiedMatching +Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0079153 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.1 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.2 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.3 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref ICD10:A24.4 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref MESH:D008554 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref MedDRA:10069748 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref OMIM:615557 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref UMLS:C0025229 semapv:UnspecifiedMatching +Orphanet:31202 Melioidosis oboInOwl:hasDbXref icd11:1C42 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.0 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.0 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.1 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.8 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.8 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.9 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref ICD10:A43.9 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref MESH:D009617 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref MedDRA:10029444 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref UMLS:C0028242 semapv:UnspecifiedMatching +Orphanet:31204 Nocardiosis oboInOwl:hasDbXref icd11:1C1B.Y semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.9 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref ICD10:A25.9 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref MESH:D011906 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref MedDRA:10037904 semapv:UnspecifiedMatching +Orphanet:31205 Rat-bite fever oboInOwl:hasDbXref UMLS:C0034686 semapv:UnspecifiedMatching +Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref MESH:C579395 semapv:UnspecifiedMatching +Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:180870 semapv:UnspecifiedMatching +Orphanet:3121 Ruvalcaba syndrome oboInOwl:hasDbXref UMLS:C0265248 semapv:UnspecifiedMatching +Orphanet:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref MESH:C536320 semapv:UnspecifiedMatching +Orphanet:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref OMIM:211390 semapv:UnspecifiedMatching +Orphanet:3123 Brittle hair syndrome, Sabinas type oboInOwl:hasDbXref UMLS:C0796271 semapv:UnspecifiedMatching +Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref MESH:C537218 semapv:UnspecifiedMatching +Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref OMIM:268700 semapv:UnspecifiedMatching +Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref UMLS:C0268556 semapv:UnspecifiedMatching +Orphanet:3124 Saccharopinuria oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref MESH:C537236 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref MedDRA:10059299 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref UMLS:C0268563 semapv:UnspecifiedMatching +Orphanet:3129 Sarcosinemia oboInOwl:hasDbXref icd11:5C50.71 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref MESH:D017490 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref MedDRA:10023686 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:146750 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:601277 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:604777 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:613943 semapv:UnspecifiedMatching +Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:617571 semapv:UnspecifiedMatching +Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref MESH:C536616 semapv:UnspecifiedMatching +Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref MedDRA:10070579 semapv:UnspecifiedMatching +Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref OMIM:600705 semapv:UnspecifiedMatching +Orphanet:3130 Satoyoshi syndrome oboInOwl:hasDbXref UMLS:C1833454 semapv:UnspecifiedMatching +Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref MESH:C536618 semapv:UnspecifiedMatching +Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref OMIM:251240 semapv:UnspecifiedMatching +Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref UMLS:C2931267 semapv:UnspecifiedMatching +Orphanet:3132 Say-Barber-Miller syndrome oboInOwl:hasDbXref icd11:4A01.0Y semapv:UnspecifiedMatching +Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref MESH:C536625 semapv:UnspecifiedMatching +Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref OMIM:312830 semapv:UnspecifiedMatching +Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref UMLS:C1839321 semapv:UnspecifiedMatching +Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching +Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref OMIM:614487 semapv:UnspecifiedMatching +Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome oboInOwl:hasDbXref UMLS:C3280977 semapv:UnspecifiedMatching +Orphanet:313781 20p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:313781 20p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:313781 20p13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750789 semapv:UnspecifiedMatching +Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref MESH:C567101 semapv:UnspecifiedMatching +Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref OMIM:251255 semapv:UnspecifiedMatching +Orphanet:313795 Jawad syndrome oboInOwl:hasDbXref UMLS:C0796063 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MESH:C536937 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MedDRA:10084409 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref OMIM:181450 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref UMLS:C1866994 semapv:UnspecifiedMatching +Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref OMIM:614979 semapv:UnspecifiedMatching +Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref UMLS:C4749914 semapv:UnspecifiedMatching +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref MESH:C580150 semapv:UnspecifiedMatching +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref UMLS:C3711381 semapv:UnspecifiedMatching +Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref MESH:C567401 semapv:UnspecifiedMatching +Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref OMIM:612199 semapv:UnspecifiedMatching +Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref OMIM:617341 semapv:UnspecifiedMatching +Orphanet:313838 Coats plus syndrome oboInOwl:hasDbXref UMLS:C2677299 semapv:UnspecifiedMatching +Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C10.9 semapv:UnspecifiedMatching +Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref ICD10:C10.9 semapv:UnspecifiedMatching +Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref OMIM:614564 semapv:UnspecifiedMatching +Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome oboInOwl:hasDbXref UMLS:C5190630 semapv:UnspecifiedMatching +Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref OMIM:614559 semapv:UnspecifiedMatching +Orphanet:313850 Infantile cerebellar-retinal degeneration oboInOwl:hasDbXref UMLS:C3281192 semapv:UnspecifiedMatching +Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching +Orphanet:313855 FGFR2-related bent bone dysplasia oboInOwl:hasDbXref UMLS:C4755261 semapv:UnspecifiedMatching +Orphanet:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:616803 semapv:UnspecifiedMatching +Orphanet:313884 12p12.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4755260 semapv:UnspecifiedMatching +Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref OMIM:616803 semapv:UnspecifiedMatching +Orphanet:313892 Developmental and speech delay due to SOX5 deficiency oboInOwl:hasDbXref UMLS:C4749915 semapv:UnspecifiedMatching +Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref ICD10:Q45.2 semapv:UnspecifiedMatching +Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref UMLS:C0341480 semapv:UnspecifiedMatching +Orphanet:313906 Congenital pancreatic cyst oboInOwl:hasDbXref icd11:LB21.Y semapv:UnspecifiedMatching +Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma oboInOwl:hasDbXref UMLS:C4274414 semapv:UnspecifiedMatching +Orphanet:313936 PENS syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:313936 PENS syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:313936 PENS syndrome oboInOwl:hasDbXref UMLS:C4749916 semapv:UnspecifiedMatching +Orphanet:313947 2q23.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:313947 2q23.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:313947 2q23.1 microduplication syndrome oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching +Orphanet:313947 2q23.1 microduplication syndrome oboInOwl:hasDbXref UMLS:C4707847 semapv:UnspecifiedMatching +Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 semapv:UnspecifiedMatching +Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 semapv:UnspecifiedMatching +Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching +Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref UMLS:C5551904 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching +Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching +Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref UMLS:C4751075 semapv:UnspecifiedMatching +Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching +Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching +Orphanet:314017 Idiopathic linear interstitial keratitis oboInOwl:hasDbXref UMLS:C4751438 semapv:UnspecifiedMatching +Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref OMIM:619182 semapv:UnspecifiedMatching +Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach oboInOwl:hasDbXref UMLS:C1868001 semapv:UnspecifiedMatching +Orphanet:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:314029 High bone mass osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C5190607 semapv:UnspecifiedMatching +Orphanet:314034 7p22.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:314034 7p22.1 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:314034 7p22.1 microduplication syndrome oboInOwl:hasDbXref UMLS:C4707093 semapv:UnspecifiedMatching +Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome oboInOwl:hasDbXref UMLS:C5190606 semapv:UnspecifiedMatching +Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref OMIM:614924 semapv:UnspecifiedMatching +Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome oboInOwl:hasDbXref UMLS:C4706421 semapv:UnspecifiedMatching +Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref OMIM:269200 semapv:UnspecifiedMatching +Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref UMLS:C0085860 semapv:UnspecifiedMatching +Orphanet:3143 Autoimmune polyendocrinopathy type 2 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching +Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref OMIM:614616 semapv:UnspecifiedMatching +Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity oboInOwl:hasDbXref UMLS:C5191644 semapv:UnspecifiedMatching +Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref ICD10:P76.0 semapv:UnspecifiedMatching +Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref ICD10:P76.0 semapv:UnspecifiedMatching +Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref OMIM:614665 semapv:UnspecifiedMatching +Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oboInOwl:hasDbXref UMLS:C4518781 semapv:UnspecifiedMatching +Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref OMIM:614653 semapv:UnspecifiedMatching +Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref UMLS:C3539003 semapv:UnspecifiedMatching +Orphanet:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:314389 Xq12-q13.3 duplication syndrome oboInOwl:hasDbXref UMLS:C4707094 semapv:UnspecifiedMatching +Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:614813 semapv:UnspecifiedMatching +Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C3542022 semapv:UnspecifiedMatching +Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref OMIM:614675 semapv:UnspecifiedMatching +Orphanet:314399 Autosomal dominant aplasia and myelodysplasia oboInOwl:hasDbXref UMLS:C4755259 semapv:UnspecifiedMatching +Orphanet:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref MESH:C536637 semapv:UnspecifiedMatching +Orphanet:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref OMIM:269250 semapv:UnspecifiedMatching +Orphanet:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref UMLS:C0432194 semapv:UnspecifiedMatching +Orphanet:3144 Schneckenbecken dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref OMIM:604121 semapv:UnspecifiedMatching +Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome oboInOwl:hasDbXref UMLS:C4302668 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref MESH:D000564 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref MedDRA:10066796 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref UMLS:C0002448 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:2E83.1 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:XH1SV4 semapv:UnspecifiedMatching +Orphanet:314419 Ameloblastoma oboInOwl:hasDbXref icd11:XH96J9 semapv:UnspecifiedMatching +Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref ICD10:C41.1 semapv:UnspecifiedMatching +Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref MedDRA:10083863 semapv:UnspecifiedMatching +Orphanet:314422 Ameloblastic carcinoma oboInOwl:hasDbXref UMLS:C1314678 semapv:UnspecifiedMatching +Orphanet:314425 Rare odontogenic tumor oboInOwl:hasDbXref UMLS:C5681049 semapv:UnspecifiedMatching +Orphanet:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching +Orphanet:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching +Orphanet:314432 Spigelian hernia-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751074 semapv:UnspecifiedMatching +Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref MESH:D008539 semapv:UnspecifiedMatching +Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref MedDRA:10027139 semapv:UnspecifiedMatching +Orphanet:314451 Meigs syndrome oboInOwl:hasDbXref UMLS:C0025184 semapv:UnspecifiedMatching +Orphanet:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching +Orphanet:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching +Orphanet:314459 Pseudo-Meigs syndrome oboInOwl:hasDbXref UMLS:C5190824 semapv:UnspecifiedMatching +Orphanet:314466 Atypical Meigs syndrome oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314466 Atypical Meigs syndrome oboInOwl:hasDbXref UMLS:C5190605 semapv:UnspecifiedMatching +Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref MESH:C562391 semapv:UnspecifiedMatching +Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref MedDRA:10064257 semapv:UnspecifiedMatching +Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref UMLS:C0149951 semapv:UnspecifiedMatching +Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref UMLS:C4707356 semapv:UnspecifiedMatching +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:619216 semapv:UnspecifiedMatching +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C4749918 semapv:UnspecifiedMatching +Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:221995 semapv:UnspecifiedMatching +Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5680732 semapv:UnspecifiedMatching +Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref MESH:C566988 semapv:UnspecifiedMatching +Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref OMIM:611174 semapv:UnspecifiedMatching +Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C1970027 semapv:UnspecifiedMatching +Orphanet:314566 Primary progressive apraxia of speech oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:314566 Primary progressive apraxia of speech oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4749919 semapv:UnspecifiedMatching +Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751073 semapv:UnspecifiedMatching +Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref OMIM:614846 semapv:UnspecifiedMatching +Orphanet:314585 15q overgrowth syndrome oboInOwl:hasDbXref UMLS:C4749920 semapv:UnspecifiedMatching +Orphanet:314588 Distal triplication 15q oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:314588 Distal triplication 15q oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:314588 Distal triplication 15q oboInOwl:hasDbXref OMIM:614846 semapv:UnspecifiedMatching +Orphanet:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref MESH:C535459 semapv:UnspecifiedMatching +Orphanet:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref OMIM:604213 semapv:UnspecifiedMatching +Orphanet:314597 Chudley-McCullough syndrome oboInOwl:hasDbXref UMLS:C1858695 semapv:UnspecifiedMatching +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref MESH:C566956 semapv:UnspecifiedMatching +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref OMIM:611390 semapv:UnspecifiedMatching +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy oboInOwl:hasDbXref UMLS:C1969645 semapv:UnspecifiedMatching +Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref MedDRA:10085759 semapv:UnspecifiedMatching +Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref UMLS:C3891714 semapv:UnspecifiedMatching +Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching +Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref UMLS:C4755258 semapv:UnspecifiedMatching +Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching +Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C5230619 semapv:UnspecifiedMatching +Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref OMIM:614702 semapv:UnspecifiedMatching +Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref UMLS:C4749921 semapv:UnspecifiedMatching +Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref OMIM:614756 semapv:UnspecifiedMatching +Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability oboInOwl:hasDbXref UMLS:C4509917 semapv:UnspecifiedMatching +Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching +Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref UMLS:C4302669 semapv:UnspecifiedMatching +Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching +Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref UMLS:C5192432 semapv:UnspecifiedMatching +Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref OMIM:614727 semapv:UnspecifiedMatching +Orphanet:314667 TMEM165-CDG oboInOwl:hasDbXref UMLS:C3553571 semapv:UnspecifiedMatching +Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref MESH:C536530 semapv:UnspecifiedMatching +Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref OMIM:601390 semapv:UnspecifiedMatching +Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref OMIM:615546 semapv:UnspecifiedMatching +Orphanet:314679 Cerebrofacioarticular syndrome oboInOwl:hasDbXref UMLS:C1832390 semapv:UnspecifiedMatching +Orphanet:314684 Primary bone lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:314684 Primary bone lymphoma oboInOwl:hasDbXref UMLS:C1332582 semapv:UnspecifiedMatching +Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref OMIM:614868 semapv:UnspecifiedMatching +Orphanet:314689 Combined immunodeficiency due to STK4 deficiency oboInOwl:hasDbXref UMLS:C4749922 semapv:UnspecifiedMatching +Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref ICD10:G93.0 semapv:UnspecifiedMatching +Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref UMLS:C0151860 semapv:UnspecifiedMatching +Orphanet:314697 Acquired porencephaly oboInOwl:hasDbXref icd11:8D68 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.2 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching +Orphanet:314701 Primary systemic amyloidosis oboInOwl:hasDbXref UMLS:C0281479 semapv:UnspecifiedMatching +Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching +Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref UMLS:C5679901 semapv:UnspecifiedMatching +Orphanet:314709 Primary localized amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref OMIM:614437 semapv:UnspecifiedMatching +Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency oboInOwl:hasDbXref UMLS:C5190604 semapv:UnspecifiedMatching +Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching +Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency oboInOwl:hasDbXref UMLS:C5190802 semapv:UnspecifiedMatching +Orphanet:314753 Functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0854486 semapv:UnspecifiedMatching +Orphanet:314759 Mixed functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0346305 semapv:UnspecifiedMatching +Orphanet:314769 Somatomammotropinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314769 Somatomammotropinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314769 Somatomammotropinoma oboInOwl:hasDbXref UMLS:C4755297 semapv:UnspecifiedMatching +Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref MESH:C566321 semapv:UnspecifiedMatching +Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching +Orphanet:314777 Familial isolated pituitary adenoma oboInOwl:hasDbXref UMLS:C2676191 semapv:UnspecifiedMatching +Orphanet:314786 Silent pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314786 Silent pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314790 Null pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314790 Null pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:314790 Null pituitary adenoma oboInOwl:hasDbXref UMLS:C5680967 semapv:UnspecifiedMatching +Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref OMIM:300582 semapv:UnspecifiedMatching +Orphanet:314795 SHOX-related short stature oboInOwl:hasDbXref UMLS:C4706613 semapv:UnspecifiedMatching +Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching +Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching +Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref MESH:D018319 semapv:UnspecifiedMatching +Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref MedDRA:10029236 semapv:UnspecifiedMatching +Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C0751690 semapv:UnspecifiedMatching +Orphanet:3148 Malignant peripheral nerve sheath tumor oboInOwl:hasDbXref icd11:2A02.10 semapv:UnspecifiedMatching +Orphanet:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref OMIM:604271 semapv:UnspecifiedMatching +Orphanet:314802 Short stature due to partial GHR deficiency oboInOwl:hasDbXref UMLS:C5190814 semapv:UnspecifiedMatching +Orphanet:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref OMIM:615925 semapv:UnspecifiedMatching +Orphanet:314811 Short stature due to GHSR deficiency oboInOwl:hasDbXref UMLS:C4707848 semapv:UnspecifiedMatching +Orphanet:314822 Primary renal tubular acidosis oboInOwl:hasDbXref UMLS:C5680966 semapv:UnspecifiedMatching +Orphanet:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:314889 Autosomal dominant proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C5679902 semapv:UnspecifiedMatching +Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching +Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref UMLS:C5575558 semapv:UnspecifiedMatching +Orphanet:314911 Severe Canavan disease oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching +Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref UMLS:C0751667 semapv:UnspecifiedMatching +Orphanet:314918 Mild Canavan disease oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:314928 NON RARE IN EUROPE: Normal pressure hydrocephalus oboInOwl:hasDbXref ICD10:G91.2 semapv:UnspecifiedMatching +Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:314950 Primary hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C5679898 semapv:UnspecifiedMatching +Orphanet:314962 Secondary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:314962 Secondary hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:314962 Secondary hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C5679897 semapv:UnspecifiedMatching +Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C5396402 semapv:UnspecifiedMatching +Orphanet:314970 Lymphocytic hypereosinophilic syndrome oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching +Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching +Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching +Orphanet:314978 X-linked non progressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C4707849 semapv:UnspecifiedMatching +Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref OMIM:608227 semapv:UnspecifiedMatching +Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome oboInOwl:hasDbXref UMLS:C4512052 semapv:UnspecifiedMatching +Orphanet:315 Erythrokeratoderma ''en cocardes'' oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome oboInOwl:hasDbXref UMLS:C4518551 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref MESH:C537525 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref OMIM:269500 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref OMIM:614305 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref UMLS:C0265301 semapv:UnspecifiedMatching +Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching +Orphanet:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref UMLS:C5679896 semapv:UnspecifiedMatching +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref UMLS:C5679895 semapv:UnspecifiedMatching +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:315350 Autoimmune disease with skin involvement oboInOwl:hasDbXref UMLS:C5680965 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref MESH:C537580 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref MedDRA:10084074 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:266900 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606995 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606996 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:609254 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:610189 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:613615 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:614845 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616307 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:616629 semapv:UnspecifiedMatching +Orphanet:3156 Senior-Loken syndrome oboInOwl:hasDbXref UMLS:C0403553 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MESH:D025962 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref MedDRA:10067159 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching +Orphanet:3157 Septo-optic dysplasia spectrum oboInOwl:hasDbXref UMLS:C0338503 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:617756 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:618531 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:619209 semapv:UnspecifiedMatching +Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref icd11:EC20.0Y semapv:UnspecifiedMatching +Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref ICD10:Q33.2 semapv:UnspecifiedMatching +Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref MESH:D001998 semapv:UnspecifiedMatching +Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref MedDRA:10059160 semapv:UnspecifiedMatching +Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref UMLS:C0006288 semapv:UnspecifiedMatching +Orphanet:3161 Congenital pulmonary sequestration oboInOwl:hasDbXref icd11:LA75.6 semapv:UnspecifiedMatching +Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref ICD10:C84.1 semapv:UnspecifiedMatching +Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref ICD10:C84.1 semapv:UnspecifiedMatching +Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref MESH:D012751 semapv:UnspecifiedMatching +Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref MedDRA:10040493 semapv:UnspecifiedMatching +Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref UMLS:C0036920 semapv:UnspecifiedMatching +Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref MESH:C564815 semapv:UnspecifiedMatching +Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref UMLS:C1849156 semapv:UnspecifiedMatching +Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref icd11:8B44.0Z semapv:UnspecifiedMatching +Orphanet:316235 Autosomal dominant spastic ataxia oboInOwl:hasDbXref UMLS:C5679899 semapv:UnspecifiedMatching +Orphanet:316240 Autosomal recessive spastic ataxia oboInOwl:hasDbXref UMLS:C5679900 semapv:UnspecifiedMatching +Orphanet:316244 Partial deletion of the short arm of chromosome 12 oboInOwl:hasDbXref MESH:C538302 semapv:UnspecifiedMatching +Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching +Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref OMIM:269880 semapv:UnspecifiedMatching +Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref UMLS:C0878684 semapv:UnspecifiedMatching +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref MESH:C537329 semapv:UnspecifiedMatching +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref OMIM:182210 semapv:UnspecifiedMatching +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref UMLS:C1866958 semapv:UnspecifiedMatching +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref ICD10:M35.4 semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref MESH:C562487 semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref MedDRA:10014954 semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref OMIM:226350 semapv:UnspecifiedMatching +Orphanet:3165 Eosinophilic fasciitis oboInOwl:hasDbXref UMLS:C0264005 semapv:UnspecifiedMatching +Orphanet:3166 Sialuria oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:3166 Sialuria oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:3166 Sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching +Orphanet:3166 Sialuria oboInOwl:hasDbXref UMLS:C0342853 semapv:UnspecifiedMatching +Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching +Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref MESH:C537335 semapv:UnspecifiedMatching +Orphanet:3167 Siegler-Brewer-Carey syndrome oboInOwl:hasDbXref UMLS:C2931473 semapv:UnspecifiedMatching +Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref MESH:C537338 semapv:UnspecifiedMatching +Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref OMIM:113450 semapv:UnspecifiedMatching +Orphanet:3168 Sillence syndrome oboInOwl:hasDbXref UMLS:C1862092 semapv:UnspecifiedMatching +Orphanet:3169 Sirenomelia oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3169 Sirenomelia oboInOwl:hasDbXref MedDRA:10049216 semapv:UnspecifiedMatching +Orphanet:3169 Sirenomelia oboInOwl:hasDbXref OMIM:600145 semapv:UnspecifiedMatching +Orphanet:3169 Sirenomelia oboInOwl:hasDbXref UMLS:C0037205 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref MESH:D056266 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref MedDRA:10049048 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617524 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617525 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref OMIM:617526 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C0265961 semapv:UnspecifiedMatching +Orphanet:317 Erythrokeratodermia variabilis oboInOwl:hasDbXref icd11:EC20.0Y semapv:UnspecifiedMatching +Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref MESH:C535522 semapv:UnspecifiedMatching +Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref OMIM:602066 semapv:UnspecifiedMatching +Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref UMLS:C1865926 semapv:UnspecifiedMatching +Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref icd11:8A61.10 semapv:UnspecifiedMatching +Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref OMIM:227210 semapv:UnspecifiedMatching +Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref UMLS:C4518569 semapv:UnspecifiedMatching +Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref UMLS:C4749287 semapv:UnspecifiedMatching +Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MESH:D000542 semapv:UnspecifiedMatching +Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref MedDRA:10001890 semapv:UnspecifiedMatching +Orphanet:31740 Hypersensitivity pneumonitis oboInOwl:hasDbXref UMLS:C0002390 semapv:UnspecifiedMatching +Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C5679894 semapv:UnspecifiedMatching +Orphanet:317416 T-B+ severe combined immunodeficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:317419 T-B- severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:317419 T-B- severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:317419 T-B- severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C5679893 semapv:UnspecifiedMatching +Orphanet:317419 T-B- severe combined immunodeficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref OMIM:615966 semapv:UnspecifiedMatching +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref UMLS:C4274221 semapv:UnspecifiedMatching +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching +Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref OMIM:616873 semapv:UnspecifiedMatching +Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref UMLS:C5190826 semapv:UnspecifiedMatching +Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref OMIM:300853 semapv:UnspecifiedMatching +Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref UMLS:C3275445 semapv:UnspecifiedMatching +Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching +Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref UMLS:C4510949 semapv:UnspecifiedMatching +Orphanet:3176 Spina bifida-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:3176 Spina bifida-hypospadias syndrome oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:3176 Spina bifida-hypospadias syndrome oboInOwl:hasDbXref UMLS:C4706660 semapv:UnspecifiedMatching +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref MESH:C535472 semapv:UnspecifiedMatching +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:271310 semapv:UnspecifiedMatching +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref UMLS:C1849087 semapv:UnspecifiedMatching +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref ICD10:C94.0 semapv:UnspecifiedMatching +Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref ICD10:C94.0 semapv:UnspecifiedMatching +Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref MESH:D004915 semapv:UnspecifiedMatching +Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref OMIM:133180 semapv:UnspecifiedMatching +Orphanet:318 Acute erythroid leukemia oboInOwl:hasDbXref UMLS:C0023440 semapv:UnspecifiedMatching +Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref MESH:C535779 semapv:UnspecifiedMatching +Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref OMIM:600000 semapv:UnspecifiedMatching +Orphanet:3180 Spondylocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C4274762 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref MESH:C535802 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref MedDRA:10010455 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref OMIM:184400 semapv:UnspecifiedMatching +Orphanet:3181 Sprengel deformity oboInOwl:hasDbXref UMLS:C0152438 semapv:UnspecifiedMatching +Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref ICD10:T50.4 semapv:UnspecifiedMatching +Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref UMLS:C0274779 semapv:UnspecifiedMatching +Orphanet:31824 Colchicine poisoning oboInOwl:hasDbXref icd11:NE60 semapv:UnspecifiedMatching +Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref ICD10:T51.1 semapv:UnspecifiedMatching +Orphanet:31825 Methanol poisoning oboInOwl:hasDbXref UMLS:C0392621 semapv:UnspecifiedMatching +Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref ICD10:T52.8 semapv:UnspecifiedMatching +Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref ICD10:T52.8 semapv:UnspecifiedMatching +Orphanet:31826 Ethylene glycol poisoning oboInOwl:hasDbXref UMLS:C0413194 semapv:UnspecifiedMatching +Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching +Orphanet:31827 Paraquat poisoning oboInOwl:hasDbXref UMLS:C0413070 semapv:UnspecifiedMatching +Orphanet:31828 Digitalis poisoning oboInOwl:hasDbXref ICD10:T46.0 semapv:UnspecifiedMatching +Orphanet:31828 Digitalis poisoning oboInOwl:hasDbXref UMLS:C0274726 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref MedDRA:10037458 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref OMIM:265450 semapv:UnspecifiedMatching +Orphanet:31837 Pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS:C0034091 semapv:UnspecifiedMatching +Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching +Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching +Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref MESH:C537487 semapv:UnspecifiedMatching +Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref OMIM:184510 semapv:UnspecifiedMatching +Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome oboInOwl:hasDbXref UMLS:C4304819 semapv:UnspecifiedMatching +Orphanet:3185 NON RARE IN EUROPE: Polycystic ovary syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching +Orphanet:3185 NON RARE IN EUROPE: Polycystic ovary syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching +Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref MESH:C566655 semapv:UnspecifiedMatching +Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref OMIM:184705 semapv:UnspecifiedMatching +Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome oboInOwl:hasDbXref UMLS:C1866649 semapv:UnspecifiedMatching +Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching +Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching +Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref UMLS:C5680865 semapv:UnspecifiedMatching +Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching +Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref MedDRA:10037451 semapv:UnspecifiedMatching +Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching +Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref UMLS:C0162164 semapv:UnspecifiedMatching +Orphanet:3189 Congenital pulmonary valvar stenosis oboInOwl:hasDbXref icd11:LA8A.00 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.0 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.0 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.1 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.1 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C40.3 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.2 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.3 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref MedDRA:10015560 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching +Orphanet:319 Skeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0585474 semapv:UnspecifiedMatching +Orphanet:3190 Subpulmonary stenosis oboInOwl:hasDbXref ICD10:Q24.3 semapv:UnspecifiedMatching +Orphanet:3190 Subpulmonary stenosis oboInOwl:hasDbXref UMLS:C3165028 semapv:UnspecifiedMatching +Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref MESH:C537749 semapv:UnspecifiedMatching +Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref OMIM:271960 semapv:UnspecifiedMatching +Orphanet:3191 Subaortic stenosis-short stature syndrome oboInOwl:hasDbXref UMLS:C0795947 semapv:UnspecifiedMatching +Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref OMIM:614807 semapv:UnspecifiedMatching +Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores oboInOwl:hasDbXref UMLS:C4707232 semapv:UnspecifiedMatching +Orphanet:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:319171 Distal 17p13.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749349 semapv:UnspecifiedMatching +Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref OMIM:605130 semapv:UnspecifiedMatching +Orphanet:319182 Wiedemann-Steiner syndrome oboInOwl:hasDbXref UMLS:C1854630 semapv:UnspecifiedMatching +Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref OMIM:614937 semapv:UnspecifiedMatching +Orphanet:319189 Familial cortical myoclonus oboInOwl:hasDbXref UMLS:C3539916 semapv:UnspecifiedMatching +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref OMIM:251280 semapv:UnspecifiedMatching +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref OMIM:618646 semapv:UnspecifiedMatching +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia oboInOwl:hasDbXref UMLS:C4707858 semapv:UnspecifiedMatching +Orphanet:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref ICD10:Q77.6 semapv:UnspecifiedMatching +Orphanet:319195 Chondroectodermal dysplasia with night blindness oboInOwl:hasDbXref UMLS:C4706300 semapv:UnspecifiedMatching +Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref OMIM:614898 semapv:UnspecifiedMatching +Orphanet:319199 Autosomal recessive spastic paraplegia type 53 oboInOwl:hasDbXref UMLS:C3539494 semapv:UnspecifiedMatching +Orphanet:3192 Supravalvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching +Orphanet:3192 Supravalvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching +Orphanet:3192 Supravalvular pulmonary stenosis oboInOwl:hasDbXref UMLS:C2910138 semapv:UnspecifiedMatching +Orphanet:3192 Supravalvular pulmonary stenosis oboInOwl:hasDbXref icd11:LA8A.00 semapv:UnspecifiedMatching +Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref UMLS:C5679892 semapv:UnspecifiedMatching +Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref UMLS:C4274433 semapv:UnspecifiedMatching +Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 semapv:UnspecifiedMatching +Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MESH:D019142 semapv:UnspecifiedMatching +Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MedDRA:10014071 semapv:UnspecifiedMatching +Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282687 semapv:UnspecifiedMatching +Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.0 semapv:UnspecifiedMatching +Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.0 semapv:UnspecifiedMatching +Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019097 semapv:UnspecifiedMatching +Orphanet:319223 Argentine hemorrhagic fever oboInOwl:hasDbXref icd11:1D61.0 semapv:UnspecifiedMatching +Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.1 semapv:UnspecifiedMatching +Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.1 semapv:UnspecifiedMatching +Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref MedDRA:10005932 semapv:UnspecifiedMatching +Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0282192 semapv:UnspecifiedMatching +Orphanet:319229 Bolivian hemorrhagic fever oboInOwl:hasDbXref icd11:1D61.1 semapv:UnspecifiedMatching +Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319234 Venezuelan hemorrhagic fever oboInOwl:hasDbXref UMLS:C0042470 semapv:UnspecifiedMatching +Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0343633 semapv:UnspecifiedMatching +Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref UMLS:C4274434 semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:B33.4+ semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:J17.1* semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref MESH:D018804 semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref MedDRA:10019143 semapv:UnspecifiedMatching +Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS:C0243025 semapv:UnspecifiedMatching +Orphanet:319251 Rift valley fever oboInOwl:hasDbXref ICD10:A92.4 semapv:UnspecifiedMatching +Orphanet:319251 Rift valley fever oboInOwl:hasDbXref ICD10:A92.4 semapv:UnspecifiedMatching +Orphanet:319251 Rift valley fever oboInOwl:hasDbXref MESH:D012295 semapv:UnspecifiedMatching +Orphanet:319251 Rift valley fever oboInOwl:hasDbXref MedDRA:10039143 semapv:UnspecifiedMatching +Orphanet:319251 Rift valley fever oboInOwl:hasDbXref UMLS:C0035613 semapv:UnspecifiedMatching +Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref ICD10:A98.2 semapv:UnspecifiedMatching +Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref MESH:D007733 semapv:UnspecifiedMatching +Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref MedDRA:10023505 semapv:UnspecifiedMatching +Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref UMLS:C0022810 semapv:UnspecifiedMatching +Orphanet:319254 Kyasanur forest disease oboInOwl:hasDbXref icd11:1D4B semapv:UnspecifiedMatching +Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.1 semapv:UnspecifiedMatching +Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref MESH:D006481 semapv:UnspecifiedMatching +Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref MedDRA:10030310 semapv:UnspecifiedMatching +Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019103 semapv:UnspecifiedMatching +Orphanet:319266 Omsk hemorrhagic fever oboInOwl:hasDbXref icd11:1D4A semapv:UnspecifiedMatching +Orphanet:319276 Clear cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319276 Clear cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319276 Clear cell renal carcinoma oboInOwl:hasDbXref MedDRA:10073251 semapv:UnspecifiedMatching +Orphanet:319276 Clear cell renal carcinoma oboInOwl:hasDbXref UMLS:C0279702 semapv:UnspecifiedMatching +Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref MedDRA:10078493 semapv:UnspecifiedMatching +Orphanet:319298 Papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1306837 semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref ICD10:Q25.3 semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MESH:D021921 semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref MedDRA:10042598 semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref OMIM:185500 semapv:UnspecifiedMatching +Orphanet:3193 Supravalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0003499 semapv:UnspecifiedMatching +Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref MedDRA:10080544 semapv:UnspecifiedMatching +Orphanet:319303 Chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS:C1266042 semapv:UnspecifiedMatching +Orphanet:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 semapv:UnspecifiedMatching +Orphanet:319308 MiT family translocation renal cell carcinoma oboInOwl:hasDbXref UMLS:C4518356 semapv:UnspecifiedMatching +Orphanet:319319 Renal medullary carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319319 Renal medullary carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319319 Renal medullary carcinoma oboInOwl:hasDbXref MedDRA:10064886 semapv:UnspecifiedMatching +Orphanet:319319 Renal medullary carcinoma oboInOwl:hasDbXref UMLS:C4049328 semapv:UnspecifiedMatching +Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma oboInOwl:hasDbXref UMLS:C4707257 semapv:UnspecifiedMatching +Orphanet:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:319325 Tubulocystic renal cell carcinoma oboInOwl:hasDbXref UMLS:C4288091 semapv:UnspecifiedMatching +Orphanet:319328 Inherited renal cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5680964 semapv:UnspecifiedMatching +Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIM:618484 semapv:UnspecifiedMatching +Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C4707155 semapv:UnspecifiedMatching +Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:608837 semapv:UnspecifiedMatching +Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C4553889 semapv:UnspecifiedMatching +Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref MESH:C536444 semapv:UnspecifiedMatching +Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref OMIM:122440 semapv:UnspecifiedMatching +Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref UMLS:C1852542 semapv:UnspecifiedMatching +Orphanet:3194 Corneodermatoosseous syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref OMIM:605724 semapv:UnspecifiedMatching +Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations oboInOwl:hasDbXref UMLS:C4707792 semapv:UnspecifiedMatching +Orphanet:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:319465 Inherited acute myeloid leukemia oboInOwl:hasDbXref UMLS:C4707228 semapv:UnspecifiedMatching +Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations oboInOwl:hasDbXref UMLS:C4707178 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188470 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:603386 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:603744 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:606240 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:616534 semapv:UnspecifiedMatching +Orphanet:319487 Familial papillary or follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:616535 semapv:UnspecifiedMatching +Orphanet:319494 Familial nonmedullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C5191836 semapv:UnspecifiedMatching +Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref OMIM:614096 semapv:UnspecifiedMatching +Orphanet:319504 Combined oxidative phosphorylation defect type 8 oboInOwl:hasDbXref UMLS:C4518839 semapv:UnspecifiedMatching +Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref OMIM:614582 semapv:UnspecifiedMatching +Orphanet:319509 Combined oxidative phosphorylation defect type 9 oboInOwl:hasDbXref UMLS:C4706315 semapv:UnspecifiedMatching +Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref OMIM:614932 semapv:UnspecifiedMatching +Orphanet:319514 Combined oxidative phosphorylation defect type 13 oboInOwl:hasDbXref UMLS:C4706283 semapv:UnspecifiedMatching +Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref OMIM:614946 semapv:UnspecifiedMatching +Orphanet:319519 Combined oxidative phosphorylation defect type 14 oboInOwl:hasDbXref UMLS:C4755312 semapv:UnspecifiedMatching +Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref OMIM:614947 semapv:UnspecifiedMatching +Orphanet:319524 Combined oxidative phosphorylation defect type 15 oboInOwl:hasDbXref UMLS:C4706313 semapv:UnspecifiedMatching +Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency oboInOwl:hasDbXref UMLS:C5679890 semapv:UnspecifiedMatching +Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency oboInOwl:hasDbXref UMLS:C5679891 semapv:UnspecifiedMatching +Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency oboInOwl:hasDbXref UMLS:C5679889 semapv:UnspecifiedMatching +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref OMIM:614889 semapv:UnspecifiedMatching +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref UMLS:C4303071 semapv:UnspecifiedMatching +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref OMIM:614891 semapv:UnspecifiedMatching +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref UMLS:C4274793 semapv:UnspecifiedMatching +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref OMIM:614890 semapv:UnspecifiedMatching +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref UMLS:C4303665 semapv:UnspecifiedMatching +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref OMIM:616126 semapv:UnspecifiedMatching +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref UMLS:C4509853 semapv:UnspecifiedMatching +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref UMLS:C4511091 semapv:UnspecifiedMatching +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref OMIM:614889 semapv:UnspecifiedMatching +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref UMLS:C4511098 semapv:UnspecifiedMatching +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:615978 semapv:UnspecifiedMatching +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref UMLS:C4511097 semapv:UnspecifiedMatching +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref UMLS:C4510875 semapv:UnspecifiedMatching +Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref OMIM:614892 semapv:UnspecifiedMatching +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref UMLS:C4509855 semapv:UnspecifiedMatching +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref MESH:C537490 semapv:UnspecifiedMatching +Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome oboInOwl:hasDbXref UMLS:C2931508 semapv:UnspecifiedMatching +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref OMIM:614893 semapv:UnspecifiedMatching +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref UMLS:C4509854 semapv:UnspecifiedMatching +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref UMLS:C4304413 semapv:UnspecifiedMatching +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching +Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref MESH:C567068 semapv:UnspecifiedMatching +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref OMIM:617920 semapv:UnspecifiedMatching +Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref UMLS:C4554601 semapv:UnspecifiedMatching +Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref MESH:C562746 semapv:UnspecifiedMatching +Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref OMIM:608051 semapv:UnspecifiedMatching +Orphanet:319640 Retinal macular dystrophy type 2 oboInOwl:hasDbXref UMLS:C4749334 semapv:UnspecifiedMatching +Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching +Orphanet:319646 PGM1-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref MESH:C565095 semapv:UnspecifiedMatching +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref OMIM:613839 semapv:UnspecifiedMatching +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref UMLS:C3151205 semapv:UnspecifiedMatching +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref icd11:3A02.Y semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F78 semapv:UnspecifiedMatching +Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref UMLS:C4706485 semapv:UnspecifiedMatching +Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref OMIM:615071 semapv:UnspecifiedMatching +Orphanet:319671 Alazami syndrome oboInOwl:hasDbXref UMLS:C3554439 semapv:UnspecifiedMatching +Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref OMIM:614851 semapv:UnspecifiedMatching +Orphanet:319675 Microcephalic primordial dwarfism, Dauber type oboInOwl:hasDbXref UMLS:C4749303 semapv:UnspecifiedMatching +Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:614654 semapv:UnspecifiedMatching +Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:616733 semapv:UnspecifiedMatching +Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref UMLS:C4706367 semapv:UnspecifiedMatching +Orphanet:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood oboInOwl:hasDbXref ICD10:E73.8 semapv:UnspecifiedMatching +Orphanet:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood oboInOwl:hasDbXref ICD10:E73.8 semapv:UnspecifiedMatching +Orphanet:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref MESH:C538136 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:149400 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614618 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:614619 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref OMIM:618011 semapv:UnspecifiedMatching +Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref UMLS:C1835614 semapv:UnspecifiedMatching +Orphanet:319705 NON RARE IN EUROPE: Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:319719 Autoinflammatory syndrome of childhood oboInOwl:hasDbXref UMLS:C5680962 semapv:UnspecifiedMatching +Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref MedDRA:10042044 semapv:UnspecifiedMatching +Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching +Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref UMLS:C0085292 semapv:UnspecifiedMatching +Orphanet:3198 Stiff person spectrum disorder oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref MESH:C565968 semapv:UnspecifiedMatching +Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref OMIM:202900 semapv:UnspecifiedMatching +Orphanet:3199 Stimmler syndrome oboInOwl:hasDbXref UMLS:C1859965 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MESH:C536835 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref MedDRA:10079364 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref UMLS:C0398746 semapv:UnspecifiedMatching +Orphanet:32 Glutathione synthetase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref MedDRA:10080229 semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching +Orphanet:320 Apparent mineralocorticoid excess oboInOwl:hasDbXref UMLS:C0342488 semapv:UnspecifiedMatching +Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:601701 semapv:UnspecifiedMatching +Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C5191837 semapv:UnspecifiedMatching +Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome oboInOwl:hasDbXref OMIM:192445 semapv:UnspecifiedMatching +Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome oboInOwl:hasDbXref UMLS:C4304408 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref MESH:C536764 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:194380 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:616689 semapv:UnspecifiedMatching +Orphanet:3202 Dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C0272051 semapv:UnspecifiedMatching +Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:3203 Overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 semapv:UnspecifiedMatching +Orphanet:320332 X-linked pure spastic paraplegia oboInOwl:hasDbXref UMLS:C5680963 semapv:UnspecifiedMatching +Orphanet:320335 Pure or complex hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C5679885 semapv:UnspecifiedMatching +Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia oboInOwl:hasDbXref UMLS:C5679886 semapv:UnspecifiedMatching +Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia oboInOwl:hasDbXref UMLS:C5679887 semapv:UnspecifiedMatching +Orphanet:320350 Pure or complex X-linked spastic paraplegia oboInOwl:hasDbXref UMLS:C5679888 semapv:UnspecifiedMatching +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref OMIM:613364 semapv:UnspecifiedMatching +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 oboInOwl:hasDbXref UMLS:C3888208 semapv:UnspecifiedMatching +Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref UMLS:C4755299 semapv:UnspecifiedMatching +Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia oboInOwl:hasDbXref icd11:8B44.0Y semapv:UnspecifiedMatching +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref MESH:C567930 semapv:UnspecifiedMatching +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref OMIM:613096 semapv:UnspecifiedMatching +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 oboInOwl:hasDbXref UMLS:C2936879 semapv:UnspecifiedMatching +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref OMIM:615043 semapv:UnspecifiedMatching +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 oboInOwl:hasDbXref UMLS:C2680446 semapv:UnspecifiedMatching +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref OMIM:615035 semapv:UnspecifiedMatching +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 oboInOwl:hasDbXref UMLS:C3539506 semapv:UnspecifiedMatching +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref OMIM:615033 semapv:UnspecifiedMatching +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 oboInOwl:hasDbXref UMLS:C3539495 semapv:UnspecifiedMatching +Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref OMIM:615031 semapv:UnspecifiedMatching +Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation oboInOwl:hasDbXref UMLS:C5190860 semapv:UnspecifiedMatching +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref OMIM:614409 semapv:UnspecifiedMatching +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 oboInOwl:hasDbXref UMLS:C2828721 semapv:UnspecifiedMatching +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref OMIM:613162 semapv:UnspecifiedMatching +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 oboInOwl:hasDbXref UMLS:C3888209 semapv:UnspecifiedMatching +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref MESH:C566108 semapv:UnspecifiedMatching +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref OMIM:185070 semapv:UnspecifiedMatching +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome oboInOwl:hasDbXref UMLS:C1861451 semapv:UnspecifiedMatching +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref MESH:C567707 semapv:UnspecifiedMatching +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref OMIM:613206 semapv:UnspecifiedMatching +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 oboInOwl:hasDbXref UMLS:C2750784 semapv:UnspecifiedMatching +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref MESH:C563702 semapv:UnspecifiedMatching +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref OMIM:609541 semapv:UnspecifiedMatching +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1836010 semapv:UnspecifiedMatching +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref OMIM:615030 semapv:UnspecifiedMatching +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 oboInOwl:hasDbXref UMLS:C3539507 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MedDRA:10042265 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching +Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching +Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref MESH:C537502 semapv:UnspecifiedMatching +Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref OMIM:601559 semapv:UnspecifiedMatching +Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0796176 semapv:UnspecifiedMatching +Orphanet:3206 Stüve-Wiedemann syndrome oboInOwl:hasDbXref icd11:LD24.C semapv:UnspecifiedMatching +Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536701 semapv:UnspecifiedMatching +Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931292 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619166 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619167 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619224 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref UMLS:C5679823 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref ICD10:Q78.6 semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref ICD10:Q78.6 semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133700 semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching +Orphanet:321 Multiple osteochondromas oboInOwl:hasDbXref UMLS:C0206641 semapv:UnspecifiedMatching +Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref MESH:C538142 semapv:UnspecifiedMatching +Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref OMIM:272350 semapv:UnspecifiedMatching +Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref UMLS:C1802405 semapv:UnspecifiedMatching +Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching +Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref UMLS:C2931440 semapv:UnspecifiedMatching +Orphanet:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching +Orphanet:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome oboInOwl:hasDbXref UMLS:C1839564 semapv:UnspecifiedMatching +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref MESH:C536771 semapv:UnspecifiedMatching +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref OMIM:601706 semapv:UnspecifiedMatching +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type oboInOwl:hasDbXref UMLS:C1866425 semapv:UnspecifiedMatching +Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref ICD10:Q17.8 semapv:UnspecifiedMatching +Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref ICD10:Q17.8 semapv:UnspecifiedMatching +Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref MESH:C537239 semapv:UnspecifiedMatching +Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref OMIM:221300 semapv:UnspecifiedMatching +Orphanet:3216 Conductive deafness-malformed external ear syndrome oboInOwl:hasDbXref UMLS:C2931454 semapv:UnspecifiedMatching +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref MESH:C537305 semapv:UnspecifiedMatching +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref OMIM:221400 semapv:UnspecifiedMatching +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1857338 semapv:UnspecifiedMatching +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref MESH:C535928 semapv:UnspecifiedMatching +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref OMIM:601351 semapv:UnspecifiedMatching +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome oboInOwl:hasDbXref UMLS:C1832438 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref MESH:C537270 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref MedDRA:10083946 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref OMIM:229120 semapv:UnspecifiedMatching +Orphanet:3219 Fountain syndrome oboInOwl:hasDbXref UMLS:C0795944 semapv:UnspecifiedMatching +Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching +Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching +Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref MESH:C564009 semapv:UnspecifiedMatching +Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching +Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching +Orphanet:322 Exstrophy-epispadias complex oboInOwl:hasDbXref UMLS:C1838703 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref MESH:C535994 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref OMIM:234580 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref OMIM:616617 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref UMLS:C1856186 semapv:UnspecifiedMatching +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:3221 Generalized resistance to thyroid hormone oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching +Orphanet:3221 Generalized resistance to thyroid hormone oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching +Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues oboInOwl:hasDbXref UMLS:C5680961 semapv:UnspecifiedMatching +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref MESH:C567064 semapv:UnspecifiedMatching +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C1970827 semapv:UnspecifiedMatching +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref MESH:C537887 semapv:UnspecifiedMatching +Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome oboInOwl:hasDbXref UMLS:C2931654 semapv:UnspecifiedMatching +Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome oboInOwl:hasDbXref UMLS:C4274756 semapv:UnspecifiedMatching +Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref OMIM:614038 semapv:UnspecifiedMatching +Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref UMLS:C3279664 semapv:UnspecifiedMatching +Orphanet:3226 Deafness-lymphedema-leukemia syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref MESH:C538049 semapv:UnspecifiedMatching +Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref OMIM:221740 semapv:UnspecifiedMatching +Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref UMLS:C1857333 semapv:UnspecifiedMatching +Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching +Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching +Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref OMIM:124490 semapv:UnspecifiedMatching +Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref UMLS:C4274753 semapv:UnspecifiedMatching +Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref ICD10:H83.8 semapv:UnspecifiedMatching +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref ICD10:H83.8 semapv:UnspecifiedMatching +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref MESH:C536432 semapv:UnspecifiedMatching +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref OMIM:120040 semapv:UnspecifiedMatching +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome oboInOwl:hasDbXref UMLS:C1861512 semapv:UnspecifiedMatching +Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref ICD10:H74.3 semapv:UnspecifiedMatching +Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref ICD10:H74.3 semapv:UnspecifiedMatching +Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref MESH:C563316 semapv:UnspecifiedMatching +Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref OMIM:601449 semapv:UnspecifiedMatching +Orphanet:3235 Progressive deafness with stapes fixation oboInOwl:hasDbXref UMLS:C1832354 semapv:UnspecifiedMatching +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C535993 semapv:UnspecifiedMatching +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:221320 semapv:UnspecifiedMatching +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1857340 semapv:UnspecifiedMatching +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref OMIM:186500 semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref OMIM:610017 semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref OMIM:612961 semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref UMLS:C0175700 semapv:UnspecifiedMatching +Orphanet:3237 Multiple synostoses syndrome oboInOwl:hasDbXref icd11:LD26.3 semapv:UnspecifiedMatching +Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref MESH:C537269 semapv:UnspecifiedMatching +Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref OMIM:157800 semapv:UnspecifiedMatching +Orphanet:3238 Cardiospondylocarpofacial syndrome oboInOwl:hasDbXref UMLS:C2931461 semapv:UnspecifiedMatching +Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref OMIM:221350 semapv:UnspecifiedMatching +Orphanet:3239 Deafness-vitiligo-achalasia syndrome oboInOwl:hasDbXref UMLS:C4518568 semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref MESH:D000795 semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref MedDRA:10016016 semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref OMIM:301500 semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref UMLS:C0002986 semapv:UnspecifiedMatching +Orphanet:324 Fabry disease oboInOwl:hasDbXref icd11:5C56.01 semapv:UnspecifiedMatching +Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome oboInOwl:hasDbXref UMLS:C4512024 semapv:UnspecifiedMatching +Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref MESH:C565118 semapv:UnspecifiedMatching +Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref OMIM:125230 semapv:UnspecifiedMatching +Orphanet:3241 Deafness-craniofacial syndrome oboInOwl:hasDbXref UMLS:C1852278 semapv:UnspecifiedMatching +Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching +Orphanet:3242 Renpenning syndrome oboInOwl:hasDbXref UMLS:C0796135 semapv:UnspecifiedMatching +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching +Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref OMIM:616640 semapv:UnspecifiedMatching +Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref UMLS:C4518574 semapv:UnspecifiedMatching +Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618307 semapv:UnspecifiedMatching +Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C4749500 semapv:UnspecifiedMatching +Orphanet:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:324299 Multiple paragangliomas associated with polycythemia oboInOwl:hasDbXref UMLS:C5679884 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref ICD10:L98.2 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref ICD10:L98.2 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref MESH:D016463 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref MedDRA:10000748 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref OMIM:608068 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref UMLS:C0085077 semapv:UnspecifiedMatching +Orphanet:3243 Sweet syndrome oboInOwl:hasDbXref icd11:EB20 semapv:UnspecifiedMatching +Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q68.4 semapv:UnspecifiedMatching +Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4707850 semapv:UnspecifiedMatching +Orphanet:324313 9p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:324313 9p13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:324313 9p13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4707097 semapv:UnspecifiedMatching +Orphanet:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching +Orphanet:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching +Orphanet:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref OMIM:614896 semapv:UnspecifiedMatching +Orphanet:324321 Sinoatrial node dysfunction and deafness oboInOwl:hasDbXref UMLS:C3554018 semapv:UnspecifiedMatching +Orphanet:324353 Congenital achiasma oboInOwl:hasDbXref ICD10:H47.4 semapv:UnspecifiedMatching +Orphanet:324353 Congenital achiasma oboInOwl:hasDbXref ICD10:H47.4 semapv:UnspecifiedMatching +Orphanet:324353 Congenital achiasma oboInOwl:hasDbXref UMLS:C4518345 semapv:UnspecifiedMatching +Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations oboInOwl:hasDbXref UMLS:C5191052 semapv:UnspecifiedMatching +Orphanet:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:324381 Hereditary inclusion body myopathy type 4 oboInOwl:hasDbXref UMLS:C4749501 semapv:UnspecifiedMatching +Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref OMIM:300886 semapv:UnspecifiedMatching +Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref UMLS:C4751008 semapv:UnspecifiedMatching +Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome oboInOwl:hasDbXref UMLS:C4751007 semapv:UnspecifiedMatching +Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref OMIM:300884 semapv:UnspecifiedMatching +Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref UMLS:C4317295 semapv:UnspecifiedMatching +Orphanet:324422 ALG13-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia oboInOwl:hasDbXref OMIM:137200 semapv:UnspecifiedMatching +Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation oboInOwl:hasDbXref UMLS:C4749942 semapv:UnspecifiedMatching +Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref OMIM:614878 semapv:UnspecifiedMatching +Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation oboInOwl:hasDbXref UMLS:C3553961 semapv:UnspecifiedMatching +Orphanet:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref OMIM:614922 semapv:UnspecifiedMatching +Orphanet:324535 Combined oxidative phosphorylation defect type 11 oboInOwl:hasDbXref UMLS:C5190991 semapv:UnspecifiedMatching +Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4751006 semapv:UnspecifiedMatching +Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:615522 semapv:UnspecifiedMatching +Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C3809781 semapv:UnspecifiedMatching +Orphanet:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref OMIM:614961 semapv:UnspecifiedMatching +Orphanet:324569 Pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref UMLS:C3554209 semapv:UnspecifiedMatching +Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:324575 Hyperinsulinism due to HNF1A deficiency oboInOwl:hasDbXref UMLS:C4303475 semapv:UnspecifiedMatching +Orphanet:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:324581 Benign Samaritan congenital myopathy oboInOwl:hasDbXref UMLS:C4749502 semapv:UnspecifiedMatching +Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref UMLS:C4755257 semapv:UnspecifiedMatching +Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref ICD10:G51.4 semapv:UnspecifiedMatching +Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref MESH:C564676 semapv:UnspecifiedMatching +Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref OMIM:606703 semapv:UnspecifiedMatching +Orphanet:324588 Familial dyskinesia and facial myokymia oboInOwl:hasDbXref UMLS:C1847627 semapv:UnspecifiedMatching +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref MESH:C566098 semapv:UnspecifiedMatching +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref OMIM:185750 semapv:UnspecifiedMatching +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet oboInOwl:hasDbXref UMLS:C1861391 semapv:UnspecifiedMatching +Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching +Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching +Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref OMIM:303400 semapv:UnspecifiedMatching +Orphanet:324601 X-linked cleft palate and ankyloglossia oboInOwl:hasDbXref UMLS:C4707825 semapv:UnspecifiedMatching +Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching +Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref UMLS:C5679883 semapv:UnspecifiedMatching +Orphanet:324604 Classic multiminicore myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation oboInOwl:hasDbXref UMLS:C4707173 semapv:UnspecifiedMatching +Orphanet:324625 Chikungunya oboInOwl:hasDbXref ICD10:A92.0 semapv:UnspecifiedMatching +Orphanet:324625 Chikungunya oboInOwl:hasDbXref ICD10:A92.0 semapv:UnspecifiedMatching +Orphanet:324625 Chikungunya oboInOwl:hasDbXref MESH:D065632 semapv:UnspecifiedMatching +Orphanet:324625 Chikungunya oboInOwl:hasDbXref UMLS:C0008055 semapv:UnspecifiedMatching +Orphanet:324625 Chikungunya oboInOwl:hasDbXref icd11:1D40 semapv:UnspecifiedMatching +Orphanet:324632 Hendra virus infection oboInOwl:hasDbXref ICD10:B33.8 semapv:UnspecifiedMatching +Orphanet:324632 Hendra virus infection oboInOwl:hasDbXref ICD10:B33.8 semapv:UnspecifiedMatching +Orphanet:324632 Hendra virus infection oboInOwl:hasDbXref UMLS:C4505487 semapv:UnspecifiedMatching +Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref ICD10:D69.2 semapv:UnspecifiedMatching +Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref ICD10:D69.2 semapv:UnspecifiedMatching +Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref MESH:C535645 semapv:UnspecifiedMatching +Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref UMLS:C0301928 semapv:UnspecifiedMatching +Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref icd11:ED02 semapv:UnspecifiedMatching +Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.8 semapv:UnspecifiedMatching +Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.8 semapv:UnspecifiedMatching +Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref UMLS:C4706572 semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref UMLS:C5679882 semapv:UnspecifiedMatching +Orphanet:324703 ABetaL34V amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref UMLS:C5679881 semapv:UnspecifiedMatching +Orphanet:324708 ABeta amyloidosis, Iowa type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref UMLS:C5679879 semapv:UnspecifiedMatching +Orphanet:324713 ABeta amyloidosis, Italian type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref UMLS:C5679878 semapv:UnspecifiedMatching +Orphanet:324718 ABetaA21G amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref UMLS:C5679880 semapv:UnspecifiedMatching +Orphanet:324723 ABeta amyloidosis, Arctic type oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching +Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref UMLS:C4317224 semapv:UnspecifiedMatching +Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref MedDRA:10051956 semapv:UnspecifiedMatching +Orphanet:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref UMLS:C0265255 semapv:UnspecifiedMatching +Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680960 semapv:UnspecifiedMatching +Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching +Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref OMIM:185700 semapv:UnspecifiedMatching +Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref UMLS:C1861401 semapv:UnspecifiedMatching +Orphanet:324927 Pyogenic autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680956 semapv:UnspecifiedMatching +Orphanet:324930 Granulomatous autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680957 semapv:UnspecifiedMatching +Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome oboInOwl:hasDbXref UMLS:C5680958 semapv:UnspecifiedMatching +Orphanet:324936 Unclassified autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680959 semapv:UnspecifiedMatching +Orphanet:324939 Periodic fever syndrome of childhood oboInOwl:hasDbXref UMLS:C5680952 semapv:UnspecifiedMatching +Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood oboInOwl:hasDbXref UMLS:C5680953 semapv:UnspecifiedMatching +Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood oboInOwl:hasDbXref UMLS:C5680954 semapv:UnspecifiedMatching +Orphanet:324953 Unclassified autoinflammatory syndrome of childhood oboInOwl:hasDbXref UMLS:C5680955 semapv:UnspecifiedMatching +Orphanet:324960 Unexplained periodic fever syndrome of childhood oboInOwl:hasDbXref UMLS:C5680951 semapv:UnspecifiedMatching +Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMatching +Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMatching +Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref OMIM:259680 semapv:UnspecifiedMatching +Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref UMLS:C5679877 semapv:UnspecifiedMatching +Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref icd11:4A6Y semapv:UnspecifiedMatching +Orphanet:324972 MAGIC syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324972 MAGIC syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324972 MAGIC syndrome oboInOwl:hasDbXref MedDRA:10078132 semapv:UnspecifiedMatching +Orphanet:324972 MAGIC syndrome oboInOwl:hasDbXref UMLS:C0406568 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:256040 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:617591 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:618048 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619175 semapv:UnspecifiedMatching +Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619183 semapv:UnspecifiedMatching +Orphanet:324999 JMP syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:324999 JMP syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref MedDRA:10016076 semapv:UnspecifiedMatching +Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref OMIM:613679 semapv:UnspecifiedMatching +Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref UMLS:C0272317 semapv:UnspecifiedMatching +Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref MESH:C536223 semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:185800 semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:615298 semapv:UnspecifiedMatching +Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref UMLS:C1861385 semapv:UnspecifiedMatching +Orphanet:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:325055 46,XX disorder of gonadal development oboInOwl:hasDbXref UMLS:C5680950 semapv:UnspecifiedMatching +Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess oboInOwl:hasDbXref UMLS:C5679876 semapv:UnspecifiedMatching +Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen oboInOwl:hasDbXref UMLS:C5679875 semapv:UnspecifiedMatching +Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen oboInOwl:hasDbXref UMLS:C5679874 semapv:UnspecifiedMatching +Orphanet:325109 Syndrome with 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C5679873 semapv:UnspecifiedMatching +Orphanet:325118 46,XY disorder of gonadal development oboInOwl:hasDbXref UMLS:C5680949 semapv:UnspecifiedMatching +Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching +Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref MESH:C537770 semapv:UnspecifiedMatching +Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref MedDRA:10002641 semapv:UnspecifiedMatching +Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref UMLS:C1261504 semapv:UnspecifiedMatching +Orphanet:325124 Testicular agenesis oboInOwl:hasDbXref icd11:LD2A.2 semapv:UnspecifiedMatching +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:C536726 semapv:UnspecifiedMatching +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C2931488 semapv:UnspecifiedMatching +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching +Orphanet:325345 46,XY ovotesticular difference of sex development oboInOwl:hasDbXref UMLS:C4706535 semapv:UnspecifiedMatching +Orphanet:325351 46,XY difference of sex development of endocrine origin oboInOwl:hasDbXref UMLS:C5679872 semapv:UnspecifiedMatching +Orphanet:325357 46,XY difference of sex development due to impaired androgen production oboInOwl:hasDbXref UMLS:C5679870 semapv:UnspecifiedMatching +Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref OMIM:228300 semapv:UnspecifiedMatching +Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref MESH:C538152 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref MedDRA:10083943 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref OMIM:272440 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref UMLS:C0795940 semapv:UnspecifiedMatching +Orphanet:3255 Filippi syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:325511 46,XY difference of sex development due to a cholesterol synthesis defect oboInOwl:hasDbXref UMLS:C5679868 semapv:UnspecifiedMatching +Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref UMLS:C5679869 semapv:UnspecifiedMatching +Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref UMLS:C5680948 semapv:UnspecifiedMatching +Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors oboInOwl:hasDbXref UMLS:C5679871 semapv:UnspecifiedMatching +Orphanet:325546 Sex chromosome difference of sex development oboInOwl:hasDbXref MESH:D058533 semapv:UnspecifiedMatching +Orphanet:325546 Sex chromosome difference of sex development oboInOwl:hasDbXref UMLS:C2936421 semapv:UnspecifiedMatching +Orphanet:325620 Difference of sex development of gynecological interest oboInOwl:hasDbXref UMLS:C5679866 semapv:UnspecifiedMatching +Orphanet:325632 46,XY difference of sex development of gynecological interest oboInOwl:hasDbXref UMLS:C5679867 semapv:UnspecifiedMatching +Orphanet:325638 Syndrome with difference of sex development of gynecological interest oboInOwl:hasDbXref UMLS:C5679864 semapv:UnspecifiedMatching +Orphanet:325665 Genetic difference of sex development of gynecological interest oboInOwl:hasDbXref UMLS:C5679865 semapv:UnspecifiedMatching +Orphanet:325690 Genetic difference of sex development oboInOwl:hasDbXref UMLS:C5679861 semapv:UnspecifiedMatching +Orphanet:325706 Genetic 46,XY difference of sex development oboInOwl:hasDbXref UMLS:C5679863 semapv:UnspecifiedMatching +Orphanet:325713 Genetic 46,XY difference of sex development of endocrine origin oboInOwl:hasDbXref UMLS:C5679862 semapv:UnspecifiedMatching +Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref MESH:C538150 semapv:UnspecifiedMatching +Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref OMIM:212780 semapv:UnspecifiedMatching +Orphanet:3258 Cenani-Lenz syndrome oboInOwl:hasDbXref UMLS:C1859309 semapv:UnspecifiedMatching +Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref OMIM:186350 semapv:UnspecifiedMatching +Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome oboInOwl:hasDbXref UMLS:C5191039 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref MESH:D005166 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref MedDRA:10048930 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref OMIM:227400 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref UMLS:C0015499 semapv:UnspecifiedMatching +Orphanet:326 Congenital factor V deficiency oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref ICD10:D47.5 semapv:UnspecifiedMatching +Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref OMIM:607685 semapv:UnspecifiedMatching +Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref UMLS:C0206141 semapv:UnspecifiedMatching +Orphanet:3260 Idiopathic hypereosinophilic syndrome oboInOwl:hasDbXref icd11:4B03.Z semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D056735 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MedDRA:10069521 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:603909 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:615559 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:618534 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C1328840 semapv:UnspecifiedMatching +Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:3262 Dobrow syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3262 Dobrow syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3262 Dobrow syndrome oboInOwl:hasDbXref UMLS:C5190737 semapv:UnspecifiedMatching +Orphanet:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching +Orphanet:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref UMLS:C5680792 semapv:UnspecifiedMatching +Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref OMIM:143050 semapv:UnspecifiedMatching +Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref OMIM:236400 semapv:UnspecifiedMatching +Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref UMLS:C2930865 semapv:UnspecifiedMatching +Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref icd11:LB90.1 semapv:UnspecifiedMatching +Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref UMLS:C4751207 semapv:UnspecifiedMatching +Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.0 semapv:UnspecifiedMatching +Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref MESH:C566376 semapv:UnspecifiedMatching +Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref OMIM:603438 semapv:UnspecifiedMatching +Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome oboInOwl:hasDbXref UMLS:C3150890 semapv:UnspecifiedMatching +Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching +Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref UMLS:C5679809 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref MESH:D005168 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref MedDRA:10016079 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref OMIM:227500 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref UMLS:C0015503 semapv:UnspecifiedMatching +Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref MESH:C538217 semapv:UnspecifiedMatching +Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref OMIM:266255 semapv:UnspecifiedMatching +Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome oboInOwl:hasDbXref UMLS:C2931776 semapv:UnspecifiedMatching +Orphanet:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref MESH:C536270 semapv:UnspecifiedMatching +Orphanet:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome oboInOwl:hasDbXref UMLS:C2931149 semapv:UnspecifiedMatching +Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref MESH:D013584 semapv:UnspecifiedMatching +Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref MedDRA:10042863 semapv:UnspecifiedMatching +Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref OMIM:300813 semapv:UnspecifiedMatching +Orphanet:3273 Synovial sarcoma oboInOwl:hasDbXref UMLS:C0039101 semapv:UnspecifiedMatching +Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref ICD10:Q76.4 semapv:UnspecifiedMatching +Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref MESH:C535780 semapv:UnspecifiedMatching +Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref OMIM:272460 semapv:UnspecifiedMatching +Orphanet:3275 Spondylocarpotarsal synostosis oboInOwl:hasDbXref UMLS:C1848934 semapv:UnspecifiedMatching +Orphanet:3276 Disorder of plasmalogens biosynthesis oboInOwl:hasDbXref UMLS:C5681192 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref MESH:D005171 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref MedDRA:10052474 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref OMIM:227600 semapv:UnspecifiedMatching +Orphanet:328 Congenital factor X deficiency oboInOwl:hasDbXref UMLS:C0015519 semapv:UnspecifiedMatching +Orphanet:3280 Syringomyelia oboInOwl:hasDbXref MESH:D013595 semapv:UnspecifiedMatching +Orphanet:3280 Syringomyelia oboInOwl:hasDbXref MedDRA:10042928 semapv:UnspecifiedMatching +Orphanet:3280 Syringomyelia oboInOwl:hasDbXref OMIM:186700 semapv:UnspecifiedMatching +Orphanet:3280 Syringomyelia oboInOwl:hasDbXref UMLS:C0039144 semapv:UnspecifiedMatching +Orphanet:3280 Syringomyelia oboInOwl:hasDbXref icd11:8D66 semapv:UnspecifiedMatching +Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching +Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching +Orphanet:3282 Multifocal atrial tachycardia oboInOwl:hasDbXref UMLS:C0221158 semapv:UnspecifiedMatching +Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching +Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref ICD10:I47.1 semapv:UnspecifiedMatching +Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref MESH:D013613 semapv:UnspecifiedMatching +Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref MedDRA:10074640 semapv:UnspecifiedMatching +Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref UMLS:C0039235 semapv:UnspecifiedMatching +Orphanet:3283 His bundle tachycardia oboInOwl:hasDbXref icd11:BC81.1 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref MESH:C536334 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:604772 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:611938 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614021 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:614916 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIM:615441 semapv:UnspecifiedMatching +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref UMLS:C5574922 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref ICD10:M31.4 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref ICD10:M31.4 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref MESH:D013625 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref MedDRA:10043097 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref OMIM:207600 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref UMLS:C0039263 semapv:UnspecifiedMatching +Orphanet:3287 Takayasu arteritis oboInOwl:hasDbXref icd11:4A44.1 semapv:UnspecifiedMatching +Orphanet:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref ICD10:D68.1 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref MESH:D005173 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref MedDRA:10016082 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref UMLS:C0015523 semapv:UnspecifiedMatching +Orphanet:329 Congenital factor XI deficiency oboInOwl:hasDbXref icd11:3B13 semapv:UnspecifiedMatching +Orphanet:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref MESH:C536950 semapv:UnspecifiedMatching +Orphanet:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref OMIM:272950 semapv:UnspecifiedMatching +Orphanet:3291 Teebi-Shaltout syndrome oboInOwl:hasDbXref UMLS:C1848912 semapv:UnspecifiedMatching +Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref OMIM:615895 semapv:UnspecifiedMatching +Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis oboInOwl:hasDbXref UMLS:C5394674 semapv:UnspecifiedMatching +Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref OMIM:615042 semapv:UnspecifiedMatching +Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy oboInOwl:hasDbXref UMLS:C5190603 semapv:UnspecifiedMatching +Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref OMIM:615923 semapv:UnspecifiedMatching +Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome oboInOwl:hasDbXref UMLS:C4749503 semapv:UnspecifiedMatching +Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref OMIM:615516 semapv:UnspecifiedMatching +Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability oboInOwl:hasDbXref UMLS:C4749505 semapv:UnspecifiedMatching +Orphanet:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref MESH:C536953 semapv:UnspecifiedMatching +Orphanet:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref OMIM:211960 semapv:UnspecifiedMatching +Orphanet:3292 Tel Hashomer camptodactyly syndrome oboInOwl:hasDbXref UMLS:C1859356 semapv:UnspecifiedMatching +Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.2 semapv:UnspecifiedMatching +Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.2 semapv:UnspecifiedMatching +Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 semapv:UnspecifiedMatching +Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref UMLS:C4721549 semapv:UnspecifiedMatching +Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 semapv:UnspecifiedMatching +Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 semapv:UnspecifiedMatching +Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref UMLS:C0338573 semapv:UnspecifiedMatching +Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:615009 semapv:UnspecifiedMatching +Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751005 semapv:UnspecifiedMatching +Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref OMIM:615095 semapv:UnspecifiedMatching +Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref UMLS:C4510378 semapv:UnspecifiedMatching +Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref OMIM:300888 semapv:UnspecifiedMatching +Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement oboInOwl:hasDbXref UMLS:C4749943 semapv:UnspecifiedMatching +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref OMIM:615863 semapv:UnspecifiedMatching +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref OMIM:618183 semapv:UnspecifiedMatching +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref UMLS:C4751003 semapv:UnspecifiedMatching +Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching +Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref OMIM:615025 semapv:UnspecifiedMatching +Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref UMLS:C3554366 semapv:UnspecifiedMatching +Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:300894 semapv:UnspecifiedMatching +Orphanet:329284 Beta-propeller protein-associated neurodegeneration oboInOwl:hasDbXref UMLS:C3550973 semapv:UnspecifiedMatching +Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref MESH:C580102 semapv:UnspecifiedMatching +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C3668943 semapv:UnspecifiedMatching +Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref OMIM:617070 semapv:UnspecifiedMatching +Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency oboInOwl:hasDbXref UMLS:C4518838 semapv:UnspecifiedMatching +Orphanet:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:329319 Thrombocythemia with distal limb defects oboInOwl:hasDbXref UMLS:C4749944 semapv:UnspecifiedMatching +Orphanet:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:329324 Inverse Klippel-Trénaunay syndrome oboInOwl:hasDbXref UMLS:C5679859 semapv:UnspecifiedMatching +Orphanet:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref MESH:C538092 semapv:UnspecifiedMatching +Orphanet:329329 Autosomal recessive frontotemporal pachygyria oboInOwl:hasDbXref UMLS:C1853215 semapv:UnspecifiedMatching +Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref OMIM:614407 semapv:UnspecifiedMatching +Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome oboInOwl:hasDbXref UMLS:C3280692 semapv:UnspecifiedMatching +Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref OMIM:616479 semapv:UnspecifiedMatching +Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4511138 semapv:UnspecifiedMatching +Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref MESH:C536960 semapv:UnspecifiedMatching +Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref OMIM:187390 semapv:UnspecifiedMatching +Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref UMLS:C2931376 semapv:UnspecifiedMatching +Orphanet:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching +Orphanet:329457 Distal arthrogryposis type 5D oboInOwl:hasDbXref UMLS:C3554415 semapv:UnspecifiedMatching +Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref OMIM:615073 semapv:UnspecifiedMatching +Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref UMLS:C4304670 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref UMLS:C5679860 semapv:UnspecifiedMatching +Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref UMLS:C4511969 semapv:UnspecifiedMatching +Orphanet:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:329478 Adult-onset distal myopathy due to VCP mutation oboInOwl:hasDbXref UMLS:C4749506 semapv:UnspecifiedMatching +Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching +Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref ICD10:N07.8 semapv:UnspecifiedMatching +Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref MESH:C567089 semapv:UnspecifiedMatching +Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref OMIM:611771 semapv:UnspecifiedMatching +Orphanet:329481 Lipoprotein glomerulopathy oboInOwl:hasDbXref UMLS:C2673196 semapv:UnspecifiedMatching +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref OMIM:142680 semapv:UnspecifiedMatching +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref UMLS:C1275126 semapv:UnspecifiedMatching +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome oboInOwl:hasDbXref icd11:4A60.2 semapv:UnspecifiedMatching +Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref OMIM:613174 semapv:UnspecifiedMatching +Orphanet:329802 5p13 microduplication syndrome oboInOwl:hasDbXref UMLS:C4749507 semapv:UnspecifiedMatching +Orphanet:329813 Mosaic genome-wide paternal uniparental disomy oboInOwl:hasDbXref ICD10:Q95.8 semapv:UnspecifiedMatching +Orphanet:329813 Mosaic genome-wide paternal uniparental disomy oboInOwl:hasDbXref UMLS:C5190828 semapv:UnspecifiedMatching +Orphanet:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref ICD10:I40.1 semapv:UnspecifiedMatching +Orphanet:329874 Idiopathic giant cell myocarditis oboInOwl:hasDbXref UMLS:C5679856 semapv:UnspecifiedMatching +Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching +Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching +Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy oboInOwl:hasDbXref UMLS:C4750834 semapv:UnspecifiedMatching +Orphanet:329888 Juvenile idiopathic inflammatory myopathy oboInOwl:hasDbXref UMLS:C5679857 semapv:UnspecifiedMatching +Orphanet:329894 Juvenile overlap myositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching +Orphanet:329894 Juvenile overlap myositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching +Orphanet:329894 Juvenile overlap myositis oboInOwl:hasDbXref UMLS:C4707728 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A33 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A33 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A34 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A34 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref ICD10:A35 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref MESH:D013742 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref MedDRA:10043376 semapv:UnspecifiedMatching +Orphanet:3299 Tetanus oboInOwl:hasDbXref UMLS:C0039614 semapv:UnspecifiedMatching +Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching +Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching +Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C5679858 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref MedDRA:10077827 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching +Orphanet:329918 C3 glomerulopathy oboInOwl:hasDbXref UMLS:C4087273 semapv:UnspecifiedMatching +Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching +Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching +Orphanet:329931 C3 glomerulonephritis oboInOwl:hasDbXref UMLS:C4055342 semapv:UnspecifiedMatching +Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C4509950 semapv:UnspecifiedMatching +Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref ICD10:M12.4 semapv:UnspecifiedMatching +Orphanet:329967 Intermittent hydrarthrosis oboInOwl:hasDbXref UMLS:C0149910 semapv:UnspecifiedMatching +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref OMIM:174900 semapv:UnspecifiedMatching +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli oboInOwl:hasDbXref UMLS:C5680947 semapv:UnspecifiedMatching +Orphanet:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching +Orphanet:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref ICD10:D37.3 semapv:UnspecifiedMatching +Orphanet:329977 Classic neuroendocrine tumor of appendix oboInOwl:hasDbXref UMLS:C5679854 semapv:UnspecifiedMatching +Orphanet:329984 Goblet cell carcinoma oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:329984 Goblet cell carcinoma oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:329984 Goblet cell carcinoma oboInOwl:hasDbXref UMLS:C0205695 semapv:UnspecifiedMatching +Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 semapv:UnspecifiedMatching +Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 semapv:UnspecifiedMatching +Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref UMLS:C0268575 semapv:UnspecifiedMatching +Orphanet:33 Isovaleric acidemia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref MESH:D005175 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref MedDRA:10051806 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching +Orphanet:330 Congenital factor XII deficiency oboInOwl:hasDbXref UMLS:C0015526 semapv:UnspecifiedMatching +Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching +Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching +Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref UMLS:C0342623 semapv:UnspecifiedMatching +Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching +Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref MESH:C537710 semapv:UnspecifiedMatching +Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref OMIM:153400 semapv:UnspecifiedMatching +Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS:C0265345 semapv:UnspecifiedMatching +Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref ICD10:J81 semapv:UnspecifiedMatching +Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref MESH:C535833 semapv:UnspecifiedMatching +Orphanet:330012 High altitude pulmonary edema oboInOwl:hasDbXref UMLS:C0340100 semapv:UnspecifiedMatching +Orphanet:330015 Lead poisoning oboInOwl:hasDbXref ICD10:T56.0 semapv:UnspecifiedMatching +Orphanet:330015 Lead poisoning oboInOwl:hasDbXref MESH:D007855 semapv:UnspecifiedMatching +Orphanet:330015 Lead poisoning oboInOwl:hasDbXref UMLS:C0023176 semapv:UnspecifiedMatching +Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref ICD10:T56.1 semapv:UnspecifiedMatching +Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref MESH:D008630 semapv:UnspecifiedMatching +Orphanet:330021 Mercury poisoning oboInOwl:hasDbXref UMLS:C0025427 semapv:UnspecifiedMatching +Orphanet:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:330029 Hypotrichosis-deafness syndrome oboInOwl:hasDbXref UMLS:C5190988 semapv:UnspecifiedMatching +Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.8 semapv:UnspecifiedMatching +Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.8 semapv:UnspecifiedMatching +Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C5679855 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref MESH:C581942 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617971 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref OMIM:617973 semapv:UnspecifiedMatching +Orphanet:330041 Hemoglobin M disease oboInOwl:hasDbXref UMLS:C3665425 semapv:UnspecifiedMatching +Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:614388 semapv:UnspecifiedMatching +Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref icd11:LD2E semapv:UnspecifiedMatching +Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref OMIM:613076 semapv:UnspecifiedMatching +Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4750835 semapv:UnspecifiedMatching +Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching +Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref MESH:D006837 semapv:UnspecifiedMatching +Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref UMLS:C0020241 semapv:UnspecifiedMatching +Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref icd11:EJ30.Y semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref MESH:C566780 semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref OMIM:174770 semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref UMLS:C0406217 semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref icd11:EJ30.Y semapv:UnspecifiedMatching +Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref ICD10:L57.1 semapv:UnspecifiedMatching +Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref ICD10:L57.1 semapv:UnspecifiedMatching +Orphanet:330064 Chronic actinic dermatitis oboInOwl:hasDbXref UMLS:C0282309 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref MESH:C536500 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref OMIM:273395 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref OMIM:618021 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref UMLS:C2931218 semapv:UnspecifiedMatching +Orphanet:3301 Tetraamelia-multiple malformations syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability oboInOwl:hasDbXref UMLS:C5679853 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref MESH:D013771 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref MedDRA:10016193 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref OMIM:618780 semapv:UnspecifiedMatching +Orphanet:3303 Tetralogy of Fallot oboInOwl:hasDbXref UMLS:C0039685 semapv:UnspecifiedMatching +Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref MESH:C536608 semapv:UnspecifiedMatching +Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref OMIM:601127 semapv:UnspecifiedMatching +Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome oboInOwl:hasDbXref UMLS:C1832735 semapv:UnspecifiedMatching +Orphanet:3305 Tetraploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching +Orphanet:3305 Tetraploidy oboInOwl:hasDbXref MESH:D057891 semapv:UnspecifiedMatching +Orphanet:3305 Tetraploidy oboInOwl:hasDbXref UMLS:C0333694 semapv:UnspecifiedMatching +Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref MESH:C580205 semapv:UnspecifiedMatching +Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref MedDRA:10081682 semapv:UnspecifiedMatching +Orphanet:3306 Inverted duplicated chromosome 15 syndrome oboInOwl:hasDbXref UMLS:C3711376 semapv:UnspecifiedMatching +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref MESH:C537564 semapv:UnspecifiedMatching +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref OMIM:156400 semapv:UnspecifiedMatching +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type oboInOwl:hasDbXref UMLS:C0265295 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref MedDRA:10073677 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:607208 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref OMIM:615744 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref UMLS:C0751122 semapv:UnspecifiedMatching +Orphanet:33069 Dravet syndrome oboInOwl:hasDbXref icd11:8A61.11 semapv:UnspecifiedMatching +Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref MESH:C538306 semapv:UnspecifiedMatching +Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref OMIM:614290 semapv:UnspecifiedMatching +Orphanet:3307 Tetrasomy 18p oboInOwl:hasDbXref UMLS:C0795868 semapv:UnspecifiedMatching +Orphanet:3309 Tetrasomy 5p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3309 Tetrasomy 5p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3309 Tetrasomy 5p oboInOwl:hasDbXref UMLS:C0795813 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref MESH:D005177 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref MedDRA:10016083 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref UMLS:C0015530 semapv:UnspecifiedMatching +Orphanet:331 Congenital factor XIII deficiency oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref MESH:C538027 semapv:UnspecifiedMatching +Orphanet:3310 Tetrasomy 9p oboInOwl:hasDbXref UMLS:C0795832 semapv:UnspecifiedMatching +Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref OMIM:253290 semapv:UnspecifiedMatching +Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C1854678 semapv:UnspecifiedMatching +Orphanet:33108 Lethal multiple pterygium syndrome oboInOwl:hasDbXref icd11:LD26.40 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref MESH:C538056 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:601495 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:612692 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613500 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613501 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613502 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:613506 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:615214 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:616941 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:619693 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:619707 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref OMIM:619824 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref UMLS:C1832241 semapv:UnspecifiedMatching +Orphanet:33110 Autosomal agammaglobulinemia oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching +Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref ICD10:C84.0 semapv:UnspecifiedMatching +Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref UMLS:C0376407 semapv:UnspecifiedMatching +Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching +Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref icd11:XH0EH1 semapv:UnspecifiedMatching +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref MESH:C567260 semapv:UnspecifiedMatching +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:331184 Constitutional neutropenia with extra-hematopoietic manifestations oboInOwl:hasDbXref UMLS:C5680943 semapv:UnspecifiedMatching +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref OMIM:613791 semapv:UnspecifiedMatching +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref UMLS:C4749651 semapv:UnspecifiedMatching +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref OMIM:613860 semapv:UnspecifiedMatching +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref UMLS:C5680944 semapv:UnspecifiedMatching +Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity oboInOwl:hasDbXref UMLS:C5680945 semapv:UnspecifiedMatching +Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref MedDRA:10071249 semapv:UnspecifiedMatching +Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref UMLS:C0432365 semapv:UnspecifiedMatching +Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref icd11:LD2F.0Y semapv:UnspecifiedMatching +Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref OMIM:601457 semapv:UnspecifiedMatching +Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref UMLS:C5679852 semapv:UnspecifiedMatching +Orphanet:331220 Immunodeficiency due to absence of thymus oboInOwl:hasDbXref UMLS:C5680946 semapv:UnspecifiedMatching +Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref MedDRA:10051040 semapv:UnspecifiedMatching +Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C3887645 semapv:UnspecifiedMatching +Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching +Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref MESH:C566928 semapv:UnspecifiedMatching +Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref OMIM:611521 semapv:UnspecifiedMatching +Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasDbXref UMLS:C1969086 semapv:UnspecifiedMatching +Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells oboInOwl:hasDbXref UMLS:C5680939 semapv:UnspecifiedMatching +Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching +Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching +Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref UMLS:C0154275 semapv:UnspecifiedMatching +Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells oboInOwl:hasDbXref UMLS:C5680941 semapv:UnspecifiedMatching +Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects oboInOwl:hasDbXref UMLS:C5680940 semapv:UnspecifiedMatching +Orphanet:331249 Immunodeficiency syndrome with hypopigmentation oboInOwl:hasDbXref UMLS:C5680942 semapv:UnspecifiedMatching +Orphanet:331249 Immunodeficiency syndrome with hypopigmentation oboInOwl:hasDbXref icd11:4A01.20 semapv:UnspecifiedMatching +Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref MESH:C537144 semapv:UnspecifiedMatching +Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref OMIM:165700 semapv:UnspecifiedMatching +Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref MESH:C536514 semapv:UnspecifiedMatching +Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref UMLS:C2931225 semapv:UnspecifiedMatching +Orphanet:3316 Thomas syndrome oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref MESH:C536517 semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref OMIM:187760 semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref OMIM:187770 semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref UMLS:C1861197 semapv:UnspecifiedMatching +Orphanet:3317 Thoracolaryngopelvic dysplasia oboInOwl:hasDbXref icd11:LD24.BY semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref ICD10:D47.3 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref ICD10:D47.3 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref MESH:D013920 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref MedDRA:10015493 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref UMLS:C0040028 semapv:UnspecifiedMatching +Orphanet:3318 Essential thrombocythemia oboInOwl:hasDbXref icd11:3B63.1Z semapv:UnspecifiedMatching +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS:C1327915 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref ICD10:D51.0 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref MESH:C563242 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref MedDRA:10070440 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:243320 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:261000 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref UMLS:C1394891 semapv:UnspecifiedMatching +Orphanet:332 Congenital intrinsic factor deficiency oboInOwl:hasDbXref icd11:3A01.0 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MESH:C536940 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MedDRA:10071719 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS:C0175703 semapv:UnspecifiedMatching +Orphanet:3320 Thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref ICD10:F51.1 semapv:UnspecifiedMatching +Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref MESH:D020177 semapv:UnspecifiedMatching +Orphanet:33208 Idiopathic hypersomnia oboInOwl:hasDbXref UMLS:C0751757 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref MESH:C536068 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:305000 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:613989 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:613990 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:615190 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616353 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching +Orphanet:3322 Hoyeraal-Hreidarsson syndrome oboInOwl:hasDbXref UMLS:C1846142 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref ICD10:C88.0 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MESH:D008258 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref MedDRA:10047801 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:153600 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref OMIM:610430 semapv:UnspecifiedMatching +Orphanet:33226 Waldenström macroglobulinemia oboInOwl:hasDbXref UMLS:C0024419 semapv:UnspecifiedMatching +Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref MESH:C536900 semapv:UnspecifiedMatching +Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref UMLS:C2931365 semapv:UnspecifiedMatching +Orphanet:3324 Familial thrombomodulin anomalies oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching +Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref ICD10:D69.5 semapv:UnspecifiedMatching +Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref ICD10:D69.5 semapv:UnspecifiedMatching +Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref MedDRA:10062506 semapv:UnspecifiedMatching +Orphanet:3325 Heparin-induced thrombocytopenia oboInOwl:hasDbXref UMLS:C0272285 semapv:UnspecifiedMatching +Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref MESH:C536907 semapv:UnspecifiedMatching +Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref OMIM:274265 semapv:UnspecifiedMatching +Orphanet:3326 Thymic-renal-anal-lung dysplasia oboInOwl:hasDbXref UMLS:C1848812 semapv:UnspecifiedMatching +Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching +Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching +Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref OMIM:274240 semapv:UnspecifiedMatching +Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref UMLS:C4518579 semapv:UnspecifiedMatching +Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching +Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.1 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.2 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.3 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.3 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.7 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.7 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.8 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.8 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.9 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.9 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref MESH:D012514 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref MedDRA:10023284 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref OMIM:148000 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref UMLS:C0036220 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:1C60.30 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:1C61.30 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.Y semapv:UnspecifiedMatching +Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref MESH:C536918 semapv:UnspecifiedMatching +Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref OMIM:601027 semapv:UnspecifiedMatching +Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref UMLS:C4518567 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C536425 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:119100 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:610685 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref OMIM:612576 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref UMLS:C4551989 semapv:UnspecifiedMatching +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching +Orphanet:333 Farber disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:333 Farber disease oboInOwl:hasDbXref MESH:D055577 semapv:UnspecifiedMatching +Orphanet:333 Farber disease oboInOwl:hasDbXref OMIM:228000 semapv:UnspecifiedMatching +Orphanet:333 Farber disease oboInOwl:hasDbXref UMLS:C0268255 semapv:UnspecifiedMatching +Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching +Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref UMLS:C0580181 semapv:UnspecifiedMatching +Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching +Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 semapv:UnspecifiedMatching +Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 semapv:UnspecifiedMatching +Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref MESH:C538361 semapv:UnspecifiedMatching +Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref OMIM:267500 semapv:UnspecifiedMatching +Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref UMLS:C0272167 semapv:UnspecifiedMatching +Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref MedDRA:10044628 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:300953 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616390 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616395 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:616943 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:618546 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:619691 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref OMIM:619692 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref UMLS:C1955934 semapv:UnspecifiedMatching +Orphanet:33364 Trichothiodystrophy oboInOwl:hasDbXref icd11:EC21.1 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:134600 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:613388 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:615605 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref OMIM:618913 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref UMLS:C5679829 semapv:UnspecifiedMatching +Orphanet:3337 Primary Fanconi renotubular syndrome oboInOwl:hasDbXref icd11:GB90.42 semapv:UnspecifiedMatching +Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref MESH:C563127 semapv:UnspecifiedMatching +Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref OMIM:217980 semapv:UnspecifiedMatching +Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref UMLS:C0796184 semapv:UnspecifiedMatching +Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref MESH:C563969 semapv:UnspecifiedMatching +Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching +Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching +Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref MedDRA:10088317 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608583 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:608988 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611493 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611494 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:612201 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:612240 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613055 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:613980 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614022 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614049 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:614050 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615377 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615378 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:615770 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref OMIM:617280 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref UMLS:C3468561 semapv:UnspecifiedMatching +Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref icd11:BC65.Y semapv:UnspecifiedMatching +Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching +Orphanet:33402 Pediatric hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0279606 semapv:UnspecifiedMatching +Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref ICD10:L43.1 semapv:UnspecifiedMatching +Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref ICD10:L43.1 semapv:UnspecifiedMatching +Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref MedDRA:10056960 semapv:UnspecifiedMatching +Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref UMLS:C0023648 semapv:UnspecifiedMatching +Orphanet:33408 Bullous lichen planus oboInOwl:hasDbXref icd11:EA91.Y semapv:UnspecifiedMatching +Orphanet:33409 NON RARE IN EUROPE: Lichen sclerosus oboInOwl:hasDbXref ICD10:L90.0 semapv:UnspecifiedMatching +Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref MESH:C536970 semapv:UnspecifiedMatching +Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref OMIM:314300 semapv:UnspecifiedMatching +Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4749808 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I77.1 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I77.1 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref MESH:C565942 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref MedDRA:10080250 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref OMIM:208050 semapv:UnspecifiedMatching +Orphanet:3342 Arterial tortuosity syndrome oboInOwl:hasDbXref UMLS:C1859726 semapv:UnspecifiedMatching +Orphanet:3343 Toxocariasis oboInOwl:hasDbXref ICD10:B83.0 semapv:UnspecifiedMatching +Orphanet:3343 Toxocariasis oboInOwl:hasDbXref ICD10:B83.0 semapv:UnspecifiedMatching +Orphanet:3343 Toxocariasis oboInOwl:hasDbXref MESH:D014120 semapv:UnspecifiedMatching +Orphanet:3343 Toxocariasis oboInOwl:hasDbXref MedDRA:10044269 semapv:UnspecifiedMatching +Orphanet:3343 Toxocariasis oboInOwl:hasDbXref UMLS:C0040553 semapv:UnspecifiedMatching +Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref MESH:C537082 semapv:UnspecifiedMatching +Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref OMIM:112350 semapv:UnspecifiedMatching +Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref UMLS:C1862172 semapv:UnspecifiedMatching +Orphanet:3344 Weismann-Netter syndrome oboInOwl:hasDbXref icd11:LD24.C semapv:UnspecifiedMatching +Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref MESH:C536203 semapv:UnspecifiedMatching +Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref OMIM:256710 semapv:UnspecifiedMatching +Orphanet:33445 Neuroectodermal melanolysosomal disease oboInOwl:hasDbXref UMLS:C1860157 semapv:UnspecifiedMatching +Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref MESH:C536975 semapv:UnspecifiedMatching +Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref UMLS:C1261567 semapv:UnspecifiedMatching +Orphanet:3346 Tracheal agenesis oboInOwl:hasDbXref icd11:LA73.Y semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MESH:D014137 semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref MedDRA:10044316 semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref OMIM:275300 semapv:UnspecifiedMatching +Orphanet:3347 Mounier-Kühn syndrome oboInOwl:hasDbXref UMLS:C0040587 semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:A39.0+ semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref MESH:D008585 semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref MedDRA:10027249 semapv:UnspecifiedMatching +Orphanet:33475 Meningococcal meningitis oboInOwl:hasDbXref UMLS:C0025294 semapv:UnspecifiedMatching +Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching +Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching +Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref MESH:C536977 semapv:UnspecifiedMatching +Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref OMIM:189961 semapv:UnspecifiedMatching +Orphanet:3348 Tracheobronchopathia osteochondroplastica oboInOwl:hasDbXref UMLS:C0520538 semapv:UnspecifiedMatching +Orphanet:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref MESH:C536544 semapv:UnspecifiedMatching +Orphanet:3349 Treft-Sanborn-Carey syndrome oboInOwl:hasDbXref UMLS:C2931235 semapv:UnspecifiedMatching +Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching +Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching +Orphanet:335 Congenital fibrinogen deficiency oboInOwl:hasDbXref UMLS:C2062367 semapv:UnspecifiedMatching +Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching +Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching +Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref MESH:C536406 semapv:UnspecifiedMatching +Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref OMIM:190310 semapv:UnspecifiedMatching +Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome oboInOwl:hasDbXref UMLS:C1860860 semapv:UnspecifiedMatching +Orphanet:3351 Trichodental syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3351 Trichodental syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3351 Trichodental syndrome oboInOwl:hasDbXref MESH:C536551 semapv:UnspecifiedMatching +Orphanet:3351 Trichodental syndrome oboInOwl:hasDbXref OMIM:601453 semapv:UnspecifiedMatching +Orphanet:3351 Trichodental syndrome oboInOwl:hasDbXref UMLS:C0406724 semapv:UnspecifiedMatching +Orphanet:3351 Trichodental syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref MESH:C536549 semapv:UnspecifiedMatching +Orphanet:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref OMIM:190320 semapv:UnspecifiedMatching +Orphanet:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref UMLS:C0265333 semapv:UnspecifiedMatching +Orphanet:3352 Tricho-dento-osseous syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref MESH:C537402 semapv:UnspecifiedMatching +Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref UMLS:C2931485 semapv:UnspecifiedMatching +Orphanet:3353 Trichodermodysplasia-dental alterations syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref ICD10:G47.8 semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MESH:D017593 semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref MedDRA:10053712 semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref OMIM:148840 semapv:UnspecifiedMatching +Orphanet:33543 Kleine-Levin syndrome oboInOwl:hasDbXref UMLS:C0206085 semapv:UnspecifiedMatching +Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref MESH:C564760 semapv:UnspecifiedMatching +Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref OMIM:275450 semapv:UnspecifiedMatching +Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref UMLS:C3502453 semapv:UnspecifiedMatching +Orphanet:3355 Trichoodontoonychial dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref MESH:C535322 semapv:UnspecifiedMatching +Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref OMIM:260005 semapv:UnspecifiedMatching +Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref UMLS:C0268525 semapv:UnspecifiedMatching +Orphanet:33572 5-oxoprolinase deficiency oboInOwl:hasDbXref icd11:5C50.5 semapv:UnspecifiedMatching +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref MESH:C536836 semapv:UnspecifiedMatching +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM:231950 semapv:UnspecifiedMatching +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS:C0268524 semapv:UnspecifiedMatching +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref icd11:5C50.5 semapv:UnspecifiedMatching +Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching +Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS:C0268523 semapv:UnspecifiedMatching +Orphanet:33574 Glutamate-cysteine ligase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching +Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref ICD10:M35.6 semapv:UnspecifiedMatching +Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MESH:D010201 semapv:UnspecifiedMatching +Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref MedDRA:10047883 semapv:UnspecifiedMatching +Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref UMLS:C0030328 semapv:UnspecifiedMatching +Orphanet:33577 Nodular non-suppurative panniculitis oboInOwl:hasDbXref icd11:EF00.Y semapv:UnspecifiedMatching +Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries oboInOwl:hasDbXref ICD10:I77.3 semapv:UnspecifiedMatching +Orphanet:336 NON RARE IN EUROPE: Fibromuscular dysplasia of arteries oboInOwl:hasDbXref ICD10:I77.3 semapv:UnspecifiedMatching +Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref OMIM:190360 semapv:UnspecifiedMatching +Orphanet:3361 Trichodysplasia-xeroderma syndrome oboInOwl:hasDbXref UMLS:C4707844 semapv:UnspecifiedMatching +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref MESH:C536554 semapv:UnspecifiedMatching +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref UMLS:C1848745 semapv:UnspecifiedMatching +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:3365 Trigonocephaly-broad thumbs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3365 Trigonocephaly-broad thumbs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3365 Trigonocephaly-broad thumbs syndrome oboInOwl:hasDbXref UMLS:C4304968 semapv:UnspecifiedMatching +Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref OMIM:190440 semapv:UnspecifiedMatching +Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref OMIM:614485 semapv:UnspecifiedMatching +Orphanet:3366 Non-syndromic metopic craniosynostosis oboInOwl:hasDbXref UMLS:C0265535 semapv:UnspecifiedMatching +Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref OMIM:275595 semapv:UnspecifiedMatching +Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome oboInOwl:hasDbXref UMLS:C4304969 semapv:UnspecifiedMatching +Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref MESH:C536620 semapv:UnspecifiedMatching +Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref OMIM:314320 semapv:UnspecifiedMatching +Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome oboInOwl:hasDbXref UMLS:C1839125 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10:M61.1 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10:M61.1 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MedDRA:10068715 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS:C0016037 semapv:UnspecifiedMatching +Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref icd11:FB31.1 semapv:UnspecifiedMatching +Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref UMLS:C5680747 semapv:UnspecifiedMatching +Orphanet:3375 Trisomy X oboInOwl:hasDbXref ICD10:Q97.0 semapv:UnspecifiedMatching +Orphanet:3375 Trisomy X oboInOwl:hasDbXref ICD10:Q97.0 semapv:UnspecifiedMatching +Orphanet:3375 Trisomy X oboInOwl:hasDbXref MESH:C535318 semapv:UnspecifiedMatching +Orphanet:3375 Trisomy X oboInOwl:hasDbXref MedDRA:10076910 semapv:UnspecifiedMatching +Orphanet:3375 Trisomy X oboInOwl:hasDbXref UMLS:C0221033 semapv:UnspecifiedMatching +Orphanet:3376 Triploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching +Orphanet:3376 Triploidy oboInOwl:hasDbXref MESH:D057885 semapv:UnspecifiedMatching +Orphanet:3376 Triploidy oboInOwl:hasDbXref UMLS:C0333693 semapv:UnspecifiedMatching +Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref MESH:C535857 semapv:UnspecifiedMatching +Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref OMIM:158300 semapv:UnspecifiedMatching +Orphanet:3377 Trismus-pseudocamptodactyly syndrome oboInOwl:hasDbXref UMLS:C0265226 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.4 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.4 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.5 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.5 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.6 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.6 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.7 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref ICD10:Q91.7 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref MESH:D000073839 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref MedDRA:10044686 semapv:UnspecifiedMatching +Orphanet:3378 Trisomy 13 oboInOwl:hasDbXref UMLS:C2936830 semapv:UnspecifiedMatching +Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref MESH:C536579 semapv:UnspecifiedMatching +Orphanet:3379 Distal duplication 17q oboInOwl:hasDbXref UMLS:C4707663 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.0 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.0 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.1 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.1 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.2 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.2 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.3 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref ICD10:Q91.3 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref MESH:D000073842 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref MedDRA:10053884 semapv:UnspecifiedMatching +Orphanet:3380 Trisomy 18 oboInOwl:hasDbXref UMLS:C4317091 semapv:UnspecifiedMatching +Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref MESH:C566022 semapv:UnspecifiedMatching +Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref OMIM:191000 semapv:UnspecifiedMatching +Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref UMLS:C1860773 semapv:UnspecifiedMatching +Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching +Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching +Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref MESH:D014339 semapv:UnspecifiedMatching +Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching +Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref UMLS:C0041207 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.1 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.9 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.9 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref MESH:D014353 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref MedDRA:10001461 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref UMLS:C0041228 semapv:UnspecifiedMatching +Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref icd11:1F51 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.0 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.1 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.2 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.3 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.4 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.4 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.5 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref ICD10:B57.5 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref MESH:D014355 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref MedDRA:10001935 semapv:UnspecifiedMatching +Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref UMLS:C0041234 semapv:UnspecifiedMatching +Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching +Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching +Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref MESH:C538390 semapv:UnspecifiedMatching +Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref OMIM:600457 semapv:UnspecifiedMatching +Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref UMLS:C1838123 semapv:UnspecifiedMatching +Orphanet:3388 Neural tube defect oboInOwl:hasDbXref MESH:D009436 semapv:UnspecifiedMatching +Orphanet:3388 Neural tube defect oboInOwl:hasDbXref MedDRA:10052046 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A16 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref MESH:D014376 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref MedDRA:10044755 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref OMIM:607948 semapv:UnspecifiedMatching +Orphanet:3389 Tuberculosis oboInOwl:hasDbXref UMLS:C0041296 semapv:UnspecifiedMatching +Orphanet:3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:560000 semapv:UnspecifiedMatching +Orphanet:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome oboInOwl:hasDbXref OMIM:129550 semapv:UnspecifiedMatching +Orphanet:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome oboInOwl:hasDbXref UMLS:C1851850 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.0 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.0 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.1 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.2 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.3 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.7 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.8 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.8 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.9 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref ICD10:A21.9 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref MESH:D014406 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref MedDRA:10045146 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref UMLS:C0041351 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref icd11:1B94 semapv:UnspecifiedMatching +Orphanet:3392 Tularemia oboInOwl:hasDbXref icd11:1B94.0 semapv:UnspecifiedMatching +Orphanet:3394 Soft tissue sarcoma oboInOwl:hasDbXref MedDRA:10075333 semapv:UnspecifiedMatching +Orphanet:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref MESH:C536905 semapv:UnspecifiedMatching +Orphanet:3398 Thymic epithelial neoplasm oboInOwl:hasDbXref UMLS:C1266101 semapv:UnspecifiedMatching +Orphanet:3399 Germ cell tumor oboInOwl:hasDbXref MedDRA:10061184 semapv:UnspecifiedMatching +Orphanet:3399 Germ cell tumor oboInOwl:hasDbXref UMLS:C0740345 semapv:UnspecifiedMatching +Orphanet:34 Pipecolic acidemia oboInOwl:hasDbXref UMLS:C0282526 semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:A98.5+ semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref ICD10:N08.0* semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MESH:C535630 semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref MedDRA:10023484 semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref UMLS:C2930957 semapv:UnspecifiedMatching +Orphanet:340 Hemorrhagic fever-renal syndrome oboInOwl:hasDbXref icd11:1D62.0 semapv:UnspecifiedMatching +Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref MESH:D000082903 semapv:UnspecifiedMatching +Orphanet:3400 Aorto-ventricular tunnel oboInOwl:hasDbXref UMLS:C4023262 semapv:UnspecifiedMatching +Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref ICD10:P74.5 semapv:UnspecifiedMatching +Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref UMLS:C0268485 semapv:UnspecifiedMatching +Orphanet:3402 Transient tyrosinemia of the newborn oboInOwl:hasDbXref icd11:5C50.1Y semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref MESH:C536932 semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref MedDRA:10048951 semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref UMLS:C0265857 semapv:UnspecifiedMatching +Orphanet:3403 Uhl anomaly oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedMatching +Orphanet:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref MESH:C537754 semapv:UnspecifiedMatching +Orphanet:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref OMIM:266910 semapv:UnspecifiedMatching +Orphanet:3404 Ulbright-Hodes syndrome oboInOwl:hasDbXref UMLS:C1849438 semapv:UnspecifiedMatching +Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref ICD10:Q43.8 semapv:UnspecifiedMatching +Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref MESH:C536938 semapv:UnspecifiedMatching +Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref UMLS:C4304396 semapv:UnspecifiedMatching +Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching +Orphanet:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching +Orphanet:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref MESH:C537412 semapv:UnspecifiedMatching +Orphanet:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching +Orphanet:3406 Ulerythema ophryogenesis oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching +Orphanet:3408 Upington disease oboInOwl:hasDbXref ICD10:M91.8 semapv:UnspecifiedMatching +Orphanet:3408 Upington disease oboInOwl:hasDbXref ICD10:M91.8 semapv:UnspecifiedMatching +Orphanet:3408 Upington disease oboInOwl:hasDbXref MESH:C536472 semapv:UnspecifiedMatching +Orphanet:3408 Upington disease oboInOwl:hasDbXref OMIM:191520 semapv:UnspecifiedMatching +Orphanet:3408 Upington disease oboInOwl:hasDbXref UMLS:C1860596 semapv:UnspecifiedMatching +Orphanet:3408 Upington disease oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref MESH:C538276 semapv:UnspecifiedMatching +Orphanet:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref OMIM:264010 semapv:UnspecifiedMatching +Orphanet:3409 Urban-Rogers-Meyer syndrome oboInOwl:hasDbXref UMLS:C0796189 semapv:UnspecifiedMatching +Orphanet:341 Viral hemorrhagic fever oboInOwl:hasDbXref MESH:D006482 semapv:UnspecifiedMatching +Orphanet:341 Viral hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019104 semapv:UnspecifiedMatching +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref ICD10:Q51.2 semapv:UnspecifiedMatching +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref MedDRA:10083351 semapv:UnspecifiedMatching +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref OMIM:192050 semapv:UnspecifiedMatching +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref UMLS:C4302552 semapv:UnspecifiedMatching +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref UMLS:C5679759 semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching +Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching +Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref MedDRA:10021263 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C4511620 semapv:UnspecifiedMatching +Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching +Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref OMIM:239100 semapv:UnspecifiedMatching +Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref UMLS:C0432272 semapv:UnspecifiedMatching +Orphanet:3416 Hyperostosis corticalis generalisata oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref MESH:C563129 semapv:UnspecifiedMatching +Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref OMIM:314500 semapv:UnspecifiedMatching +Orphanet:3417 Van den Bosch syndrome oboInOwl:hasDbXref UMLS:C0796192 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref MedDRA:10016207 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching +Orphanet:342 Familial Mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 semapv:UnspecifiedMatching +Orphanet:34217 Naxos disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:34217 Naxos disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:34217 Naxos disease oboInOwl:hasDbXref MESH:C538346 semapv:UnspecifiedMatching +Orphanet:34217 Naxos disease oboInOwl:hasDbXref OMIM:601214 semapv:UnspecifiedMatching +Orphanet:34217 Naxos disease oboInOwl:hasDbXref UMLS:C1832600 semapv:UnspecifiedMatching +Orphanet:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref MESH:C536533 semapv:UnspecifiedMatching +Orphanet:3423 Vasquez-Hurst-Sotos syndrome oboInOwl:hasDbXref UMLS:C2931231 semapv:UnspecifiedMatching +Orphanet:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref MESH:C536536 semapv:UnspecifiedMatching +Orphanet:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref OMIM:600736 semapv:UnspecifiedMatching +Orphanet:3424 Velo-facial-skeletal syndrome oboInOwl:hasDbXref UMLS:C1833380 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref MESH:D004310 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref MedDRA:10013611 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching +Orphanet:3426 Double outlet right ventricle oboInOwl:hasDbXref UMLS:C0013069 semapv:UnspecifiedMatching +Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref ICD10:Q20.2 semapv:UnspecifiedMatching +Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref MedDRA:10080133 semapv:UnspecifiedMatching +Orphanet:3427 Double outlet left ventricle oboInOwl:hasDbXref UMLS:C0265809 semapv:UnspecifiedMatching +Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref MESH:C536541 semapv:UnspecifiedMatching +Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref OMIM:215850 semapv:UnspecifiedMatching +Orphanet:3429 Verloove Vanhorick-Brubakk syndrome oboInOwl:hasDbXref UMLS:C1859082 semapv:UnspecifiedMatching +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref OMIM:260920 semapv:UnspecifiedMatching +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever oboInOwl:hasDbXref UMLS:C0398691 semapv:UnspecifiedMatching +Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref MESH:C536349 semapv:UnspecifiedMatching +Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome oboInOwl:hasDbXref UMLS:C2931177 semapv:UnspecifiedMatching +Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref MESH:C537686 semapv:UnspecifiedMatching +Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref OMIM:601349 semapv:UnspecifiedMatching +Orphanet:3434 MMEP syndrome oboInOwl:hasDbXref UMLS:C1832440 semapv:UnspecifiedMatching +Orphanet:3435 NON RARE IN EUROPE: Vitiligo oboInOwl:hasDbXref ICD10:L80 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref MESH:D014607 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref MedDRA:10082001 semapv:UnspecifiedMatching +Orphanet:3437 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS:C0042170 semapv:UnspecifiedMatching +Orphanet:3438 Biliary tract malformation-renal failure syndrome oboInOwl:hasDbXref UMLS:C0400972 semapv:UnspecifiedMatching +Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref MESH:C565618 semapv:UnspecifiedMatching +Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref OMIM:223340 semapv:UnspecifiedMatching +Orphanet:3439 Von Voss-Cherstvoy syndrome oboInOwl:hasDbXref UMLS:C1857226 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref MedDRA:10069203 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching +Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 semapv:UnspecifiedMatching +Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching +Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching +Orphanet:3444 Watson syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:3444 Watson syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:3444 Watson syndrome oboInOwl:hasDbXref OMIM:193520 semapv:UnspecifiedMatching +Orphanet:3444 Watson syndrome oboInOwl:hasDbXref UMLS:C0553586 semapv:UnspecifiedMatching +Orphanet:3446 Weaver-like syndrome oboInOwl:hasDbXref UMLS:C0220765 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref MESH:C536687 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref MedDRA:10083271 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:617561 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:618786 semapv:UnspecifiedMatching +Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref UMLS:C0265210 semapv:UnspecifiedMatching +Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref UMLS:C0796198 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MESH:D056846 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MedDRA:10064963 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:277600 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:614819 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C0265313 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref MedDRA:10056961 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref OMIM:260910 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref UMLS:C0263506 semapv:UnspecifiedMatching +Orphanet:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching +Orphanet:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS:C1848488 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref MESH:D013036 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref MedDRA:10021750 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:613477 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:615006 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:616139 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:617065 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:617929 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref OMIM:618298 semapv:UnspecifiedMatching +Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref UMLS:C0037769 semapv:UnspecifiedMatching +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref MESH:C566599 semapv:UnspecifiedMatching +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref OMIM:601954 semapv:UnspecifiedMatching +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 oboInOwl:hasDbXref UMLS:C1866008 semapv:UnspecifiedMatching +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref MESH:C564612 semapv:UnspecifiedMatching +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref OMIM:607155 semapv:UnspecifiedMatching +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 oboInOwl:hasDbXref UMLS:C1846672 semapv:UnspecifiedMatching +Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref MESH:C566370 semapv:UnspecifiedMatching +Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref OMIM:603511 semapv:UnspecifiedMatching +Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref UMLS:C3501858 semapv:UnspecifiedMatching +Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref UMLS:C3148763 semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:K90.8+ semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:K90.8+ semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:M14.8* semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:M14.8* semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref MESH:D008061 semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref MedDRA:10047931 semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref UMLS:C0023788 semapv:UnspecifiedMatching +Orphanet:3452 Whipple disease oboInOwl:hasDbXref icd11:DA96.0Y semapv:UnspecifiedMatching +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref MESH:C567709 semapv:UnspecifiedMatching +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 semapv:UnspecifiedMatching +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref UMLS:C2750786 semapv:UnspecifiedMatching +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref MESH:C537152 semapv:UnspecifiedMatching +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref OMIM:154020 semapv:UnspecifiedMatching +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref UMLS:C1835171 semapv:UnspecifiedMatching +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching +Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref MESH:C538275 semapv:UnspecifiedMatching +Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref OMIM:240300 semapv:UnspecifiedMatching +Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref UMLS:C0085859 semapv:UnspecifiedMatching +Orphanet:3453 Autoimmune polyendocrinopathy type 1 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching +Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching +Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref MedDRA:10011005 semapv:UnspecifiedMatching +Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref UMLS:C0010036 semapv:UnspecifiedMatching +Orphanet:34533 Corneal dystrophy oboInOwl:hasDbXref icd11:9A70 semapv:UnspecifiedMatching +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref MESH:C536703 semapv:UnspecifiedMatching +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref OMIM:314580 semapv:UnspecifiedMatching +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome oboInOwl:hasDbXref UMLS:C0796200 semapv:UnspecifiedMatching +Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref MESH:C536423 semapv:UnspecifiedMatching +Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref OMIM:264090 semapv:UnspecifiedMatching +Orphanet:3455 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref UMLS:C0406586 semapv:UnspecifiedMatching +Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref MedDRA:10069402 semapv:UnspecifiedMatching +Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref OMIM:314600 semapv:UnspecifiedMatching +Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref UMLS:C0265239 semapv:UnspecifiedMatching +Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching +Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching +Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref MESH:C536708 semapv:UnspecifiedMatching +Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref OMIM:309585 semapv:UnspecifiedMatching +Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref UMLS:C1839736 semapv:UnspecifiedMatching +Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref icd11:LD29 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref ICD10:D81.6 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref MESH:C565759 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:241600 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref OMIM:604571 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref UMLS:C1858266 semapv:UnspecifiedMatching +Orphanet:34592 Immunodeficiency by defective expression of MHC class I oboInOwl:hasDbXref icd11:4A01.11 semapv:UnspecifiedMatching +Orphanet:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref ICD10:L66.2 semapv:UnspecifiedMatching +Orphanet:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref ICD10:L66.2 semapv:UnspecifiedMatching +Orphanet:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref MedDRA:10063921 semapv:UnspecifiedMatching +Orphanet:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref UMLS:C5681224 semapv:UnspecifiedMatching +Orphanet:346 Quinquaud folliculitis decalvans oboInOwl:hasDbXref icd11:ED70.50 semapv:UnspecifiedMatching +Orphanet:3460 Torg-Winchester syndrome oboInOwl:hasDbXref MedDRA:10078901 semapv:UnspecifiedMatching +Orphanet:3460 Torg-Winchester syndrome oboInOwl:hasDbXref UMLS:C1850155 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref MESH:D014929 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref MedDRA:10078338 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:222300 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:598500 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref OMIM:604928 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref UMLS:C0043207 semapv:UnspecifiedMatching +Orphanet:3463 Wolfram syndrome oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MESH:C536742 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MedDRA:10082379 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 semapv:UnspecifiedMatching +Orphanet:3464 Woodhouse-Sakati syndrome oboInOwl:hasDbXref UMLS:C0342286 semapv:UnspecifiedMatching +Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref ICD10:G80.8 semapv:UnspecifiedMatching +Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref MESH:C536747 semapv:UnspecifiedMatching +Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref OMIM:185480 semapv:UnspecifiedMatching +Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref UMLS:C0796204 semapv:UnspecifiedMatching +Orphanet:3465 Worster-Drought syndrome oboInOwl:hasDbXref icd11:8D23 semapv:UnspecifiedMatching +Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref MESH:C536751 semapv:UnspecifiedMatching +Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref OMIM:194350 semapv:UnspecifiedMatching +Orphanet:3466 WT limb-blood syndrome oboInOwl:hasDbXref UMLS:C1327917 semapv:UnspecifiedMatching +Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching +Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref OMIM:603592 semapv:UnspecifiedMatching +Orphanet:3467 Hereditary xanthinuria oboInOwl:hasDbXref icd11:5C55.00 semapv:UnspecifiedMatching +Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref MESH:C536767 semapv:UnspecifiedMatching +Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref OMIM:207770 semapv:UnspecifiedMatching +Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref UMLS:C0795952 semapv:UnspecifiedMatching +Orphanet:3469 XK aprosencephaly syndrome oboInOwl:hasDbXref icd11:LD20.3 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref MESH:D052159 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref MedDRA:10080313 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref OMIM:136680 semapv:UnspecifiedMatching +Orphanet:347 Frasier syndrome oboInOwl:hasDbXref UMLS:C0950122 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref MESH:C536718 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref MedDRA:10063689 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref OMIM:279000 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref UMLS:C0340037 semapv:UnspecifiedMatching +Orphanet:3471 Young syndrome oboInOwl:hasDbXref icd11:CB40.1 semapv:UnspecifiedMatching +Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref MESH:C536719 semapv:UnspecifiedMatching +Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching +Orphanet:3472 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS:C1857663 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref MESH:C536725 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref MedDRA:10081859 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:135500 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:616455 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:618658 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref OMIM:618729 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref UMLS:C0796013 semapv:UnspecifiedMatching +Orphanet:3473 Zimmermann-Laband syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref MESH:C536729 semapv:UnspecifiedMatching +Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref OMIM:280000 semapv:UnspecifiedMatching +Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref UMLS:C1848392 semapv:UnspecifiedMatching +Orphanet:3474 CHIME syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MESH:D015319 semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MedDRA:10081516 semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 semapv:UnspecifiedMatching +Orphanet:348 Fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS:C0016756 semapv:UnspecifiedMatching +Orphanet:349 Fucosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:349 Fucosidosis oboInOwl:hasDbXref MESH:D005645 semapv:UnspecifiedMatching +Orphanet:349 Fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching +Orphanet:349 Fucosidosis oboInOwl:hasDbXref UMLS:C0016788 semapv:UnspecifiedMatching +Orphanet:349 Fucosidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:35 Propionic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:35 Propionic acidemia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:35 Propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:UnspecifiedMatching +Orphanet:35 Propionic acidemia oboInOwl:hasDbXref OMIM:606054 semapv:UnspecifiedMatching +Orphanet:35 Propionic acidemia oboInOwl:hasDbXref UMLS:C0268579 semapv:UnspecifiedMatching +Orphanet:35 Propionic acidemia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching +Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching +Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref UMLS:C5680152 semapv:UnspecifiedMatching +Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref ICD10:K72 semapv:UnspecifiedMatching +Orphanet:35063 Fulminant viral hepatitis oboInOwl:hasDbXref UMLS:C0276624 semapv:UnspecifiedMatching +Orphanet:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis oboInOwl:hasDbXref ICD10:B37 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref MedDRA:10088200 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref OMIM:256600 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref OMIM:610217 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref UMLS:C0270724 semapv:UnspecifiedMatching +Orphanet:35069 Infantile neuroaxonal dystrophy oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref OMIM:600802 semapv:UnspecifiedMatching +Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref UMLS:C5680151 semapv:UnspecifiedMatching +Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref OMIM:615529 semapv:UnspecifiedMatching +Orphanet:35093 Non-syndromic sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680150 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref OMIM:616602 semapv:UnspecifiedMatching +Orphanet:35099 Non-syndromic bicoronal craniosynostosis oboInOwl:hasDbXref UMLS:C0221356 semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref MESH:C536411 semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref MedDRA:10083306 semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref OMIM:256540 semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref UMLS:C0268233 semapv:UnspecifiedMatching +Orphanet:351 Galactosialidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref MESH:C566555 semapv:UnspecifiedMatching +Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref OMIM:602398 semapv:UnspecifiedMatching +Orphanet:35107 Desmosterolosis oboInOwl:hasDbXref UMLS:C1865596 semapv:UnspecifiedMatching +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref MESH:C564859 semapv:UnspecifiedMatching +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref OMIM:266120 semapv:UnspecifiedMatching +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency oboInOwl:hasDbXref UMLS:C1849507 semapv:UnspecifiedMatching +Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref OMIM:200950 semapv:UnspecifiedMatching +Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref UMLS:C0268410 semapv:UnspecifiedMatching +Orphanet:35121 Lysosomal acid phosphatase deficiency oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C538139 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MedDRA:10066387 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS:C1283620 semapv:UnspecifiedMatching +Orphanet:35122 Congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref icd11:5C61.2 semapv:UnspecifiedMatching +Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:35125 Epidermal nevus syndrome oboInOwl:hasDbXref MedDRA:10014985 semapv:UnspecifiedMatching +Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302960 semapv:UnspecifiedMatching +Orphanet:35173 X-linked dominant chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282102 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref MedDRA:10017604 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref UMLS:C0016952 semapv:UnspecifiedMatching +Orphanet:352 Galactosemia oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching +Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis oboInOwl:hasDbXref UMLS:C5680990 semapv:UnspecifiedMatching +Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement oboInOwl:hasDbXref UMLS:C5680993 semapv:UnspecifiedMatching +Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement oboInOwl:hasDbXref UMLS:C5680992 semapv:UnspecifiedMatching +Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement oboInOwl:hasDbXref UMLS:C5680991 semapv:UnspecifiedMatching +Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref OMIM:614739 semapv:UnspecifiedMatching +Orphanet:352328 MEGDEL syndrome oboInOwl:hasDbXref UMLS:C4040739 semapv:UnspecifiedMatching +Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref OMIM:614457 semapv:UnspecifiedMatching +Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome oboInOwl:hasDbXref UMLS:C3280856 semapv:UnspecifiedMatching +Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIM:615386 semapv:UnspecifiedMatching +Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia oboInOwl:hasDbXref UMLS:C4706415 semapv:UnspecifiedMatching +Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref OMIM:615084 semapv:UnspecifiedMatching +Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome oboInOwl:hasDbXref UMLS:C4707098 semapv:UnspecifiedMatching +Orphanet:352456 Mitochondrial DNA maintenance syndrome oboInOwl:hasDbXref UMLS:C5679930 semapv:UnspecifiedMatching +Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref OMIM:615156 semapv:UnspecifiedMatching +Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome oboInOwl:hasDbXref UMLS:C5192959 semapv:UnspecifiedMatching +Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching +Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref UMLS:C5190987 semapv:UnspecifiedMatching +Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching +Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref OMIM:615834 semapv:UnspecifiedMatching +Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref UMLS:C4749945 semapv:UnspecifiedMatching +Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:613192 semapv:UnspecifiedMatching +Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4706414 semapv:UnspecifiedMatching +Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref ICD10:M83.8 semapv:UnspecifiedMatching +Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref ICD10:M83.8 semapv:UnspecifiedMatching +Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref MESH:C537751 semapv:UnspecifiedMatching +Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref UMLS:C1274103 semapv:UnspecifiedMatching +Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref OMIM:615395 semapv:UnspecifiedMatching +Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref UMLS:C4749946 semapv:UnspecifiedMatching +Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching +Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref UMLS:C4750837 semapv:UnspecifiedMatching +Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref OMIM:605021 semapv:UnspecifiedMatching +Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0917800 semapv:UnspecifiedMatching +Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref OMIM:605021 semapv:UnspecifiedMatching +Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation oboInOwl:hasDbXref UMLS:C4707306 semapv:UnspecifiedMatching +Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching +Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref UMLS:C4706413 semapv:UnspecifiedMatching +Orphanet:352613 Male infertility due to NANOS1 mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:352613 Male infertility due to NANOS1 mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749464 semapv:UnspecifiedMatching +Orphanet:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:352636 Phalangeal microgeodic syndrome oboInOwl:hasDbXref UMLS:C4749465 semapv:UnspecifiedMatching +Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity oboInOwl:hasDbXref UMLS:C4706412 semapv:UnspecifiedMatching +Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref OMIM:618049 semapv:UnspecifiedMatching +Orphanet:352649 Brain dopamine-serotonin vesicular transport disease oboInOwl:hasDbXref UMLS:C4303546 semapv:UnspecifiedMatching +Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref OMIM:615491 semapv:UnspecifiedMatching +Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome oboInOwl:hasDbXref UMLS:C4749947 semapv:UnspecifiedMatching +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref MESH:C562551 semapv:UnspecifiedMatching +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref OMIM:127600 semapv:UnspecifiedMatching +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref UMLS:C0265966 semapv:UnspecifiedMatching +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis oboInOwl:hasDbXref icd11:DA02.0 semapv:UnspecifiedMatching +Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref OMIM:615225 semapv:UnspecifiedMatching +Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome oboInOwl:hasDbXref UMLS:C4751001 semapv:UnspecifiedMatching +Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref OMIM:616580 semapv:UnspecifiedMatching +Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion oboInOwl:hasDbXref UMLS:C5679925 semapv:UnspecifiedMatching +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref OMIM:615185 semapv:UnspecifiedMatching +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref UMLS:C4749463 semapv:UnspecifiedMatching +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:300905 semapv:UnspecifiedMatching +Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref UMLS:C3806702 semapv:UnspecifiedMatching +Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref OMIM:615191 semapv:UnspecifiedMatching +Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement oboInOwl:hasDbXref UMLS:C5191415 semapv:UnspecifiedMatching +Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies oboInOwl:hasDbXref UMLS:C5679924 semapv:UnspecifiedMatching +Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref OMIM:615139 semapv:UnspecifiedMatching +Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome oboInOwl:hasDbXref UMLS:C4749948 semapv:UnspecifiedMatching +Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref OMIM:615147 semapv:UnspecifiedMatching +Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect oboInOwl:hasDbXref UMLS:C4751000 semapv:UnspecifiedMatching +Orphanet:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352723 Attenuated Chédiak-Higashi syndrome oboInOwl:hasDbXref UMLS:C4304022 semapv:UnspecifiedMatching +Orphanet:352728 Disorder of melanin metabolism oboInOwl:hasDbXref UMLS:C5680988 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref MESH:C537728 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C0268494 semapv:UnspecifiedMatching +Orphanet:352731 Oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C5679923 semapv:UnspecifiedMatching +Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref MESH:C564645 semapv:UnspecifiedMatching +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C1847132 semapv:UnspecifiedMatching +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:352740 Ocular albinism with congenital sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref OMIM:615179 semapv:UnspecifiedMatching +Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref UMLS:C3808786 semapv:UnspecifiedMatching +Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:352763 Scleredema oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:352763 Scleredema oboInOwl:hasDbXref MedDRA:10055953 semapv:UnspecifiedMatching +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref MESH:C535900 semapv:UnspecifiedMatching +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref OMIM:253700 semapv:UnspecifiedMatching +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 oboInOwl:hasDbXref UMLS:C0410173 semapv:UnspecifiedMatching +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref OMIM:612949 semapv:UnspecifiedMatching +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref UMLS:C4512050 semapv:UnspecifiedMatching +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination oboInOwl:hasDbXref icd11:5C53.30 semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:105250 semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref OMIM:613955 semapv:UnspecifiedMatching +Orphanet:353220 Familial primary localized cutaneous amyloidosis oboInOwl:hasDbXref UMLS:C5679926 semapv:UnspecifiedMatching +Orphanet:353225 NON RARE IN EUROPE: Primary adult open-angle glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref ICD10:K14.6 semapv:UnspecifiedMatching +Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref MESH:D002054 semapv:UnspecifiedMatching +Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref MedDRA:10068065 semapv:UnspecifiedMatching +Orphanet:353253 Burning mouth syndrome oboInOwl:hasDbXref UMLS:C0006430 semapv:UnspecifiedMatching +Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching +Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDbXref UMLS:C5681840 semapv:UnspecifiedMatching +Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching +Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching +Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref MESH:C535866 semapv:UnspecifiedMatching +Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref OMIM:616651 semapv:UnspecifiedMatching +Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref UMLS:C1846059 semapv:UnspecifiedMatching +Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching +Orphanet:353308 Pyruvate carboxylase deficiency, infantile type oboInOwl:hasDbXref UMLS:C5679928 semapv:UnspecifiedMatching +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type oboInOwl:hasDbXref UMLS:C5679929 semapv:UnspecifiedMatching +Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching +Orphanet:353320 Pyruvate carboxylase deficiency, benign type oboInOwl:hasDbXref UMLS:C5679927 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:610542 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:614750 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref OMIM:616228 semapv:UnspecifiedMatching +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect oboInOwl:hasDbXref UMLS:C5680989 semapv:UnspecifiedMatching +Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching +Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref MedDRA:10038824 semapv:UnspecifiedMatching +Orphanet:353334 Congenital retinal arteriovenous communication oboInOwl:hasDbXref UMLS:C0521570 semapv:UnspecifiedMatching +Orphanet:353344 Idiopathic macular telangiectasia type 1 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:353344 Idiopathic macular telangiectasia type 1 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:353344 Idiopathic macular telangiectasia type 1 oboInOwl:hasDbXref UMLS:C4751437 semapv:UnspecifiedMatching +Orphanet:353344 Idiopathic macular telangiectasia type 1 oboInOwl:hasDbXref icd11:9B75.3 semapv:UnspecifiedMatching +Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref UMLS:C4751436 semapv:UnspecifiedMatching +Orphanet:353351 Idiopathic macular telangiectasia type 3 oboInOwl:hasDbXref icd11:9B75.3 semapv:UnspecifiedMatching +Orphanet:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching +Orphanet:353356 Vasoproliferative tumor of the retina oboInOwl:hasDbXref UMLS:C4749792 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref UMLS:C0085131 semapv:UnspecifiedMatching +Orphanet:354 GM1 gangliosidosis oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref MESH:D005776 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref MedDRA:10018048 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching +Orphanet:355 Gaucher disease oboInOwl:hasDbXref UMLS:C0017205 semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MedDRA:10072075 semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 semapv:UnspecifiedMatching +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS:C0017495 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:600165 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:609549 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:611897 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref OMIM:615972 semapv:UnspecifiedMatching +Orphanet:35612 Nanophthalmos oboInOwl:hasDbXref UMLS:C4274282 semapv:UnspecifiedMatching +Orphanet:35656 Coenzyme Q10 deficiency oboInOwl:hasDbXref MESH:C564403 semapv:UnspecifiedMatching +Orphanet:35656 Coenzyme Q10 deficiency oboInOwl:hasDbXref UMLS:C1843920 semapv:UnspecifiedMatching +Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching +Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching +Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref ICD10:H30.8 semapv:UnspecifiedMatching +Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref MedDRA:10081652 semapv:UnspecifiedMatching +Orphanet:35686 Serpiginous choroiditis oboInOwl:hasDbXref UMLS:C0729842 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref MESH:D031249 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref MedDRA:10060801 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref UMLS:C0878675 semapv:UnspecifiedMatching +Orphanet:35687 Erdheim-Chester disease oboInOwl:hasDbXref icd11:XH1VJ3 semapv:UnspecifiedMatching +Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref MedDRA:10036704 semapv:UnspecifiedMatching +Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching +Orphanet:35689 Primary lateral sclerosis oboInOwl:hasDbXref UMLS:C0154682 semapv:UnspecifiedMatching +Orphanet:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:356947 3q26q27 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4755255 semapv:UnspecifiedMatching +Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref OMIM:300896 semapv:UnspecifiedMatching +Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref UMLS:C3806688 semapv:UnspecifiedMatching +Orphanet:356961 SLC35A2-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 semapv:UnspecifiedMatching +Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C5574940 semapv:UnspecifiedMatching +Orphanet:356978 D,L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:35698 Mitochondrial DNA depletion syndrome oboInOwl:hasDbXref MedDRA:10059396 semapv:UnspecifiedMatching +Orphanet:35698 Mitochondrial DNA depletion syndrome oboInOwl:hasDbXref UMLS:C0342782 semapv:UnspecifiedMatching +Orphanet:35698 Mitochondrial DNA depletion syndrome oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref OMIM:615493 semapv:UnspecifiedMatching +Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome oboInOwl:hasDbXref UMLS:C5192596 semapv:UnspecifiedMatching +Orphanet:357 NON RARE IN EUROPE: Gilbert syndrome oboInOwl:hasDbXref ICD10:E80.4 semapv:UnspecifiedMatching +Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref OMIM:613638 semapv:UnspecifiedMatching +Orphanet:357001 19p13.13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C3150894 semapv:UnspecifiedMatching +Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching +Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency oboInOwl:hasDbXref UMLS:C5679921 semapv:UnspecifiedMatching +Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref OMIM:605911 semapv:UnspecifiedMatching +Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency oboInOwl:hasDbXref UMLS:C4510940 semapv:UnspecifiedMatching +Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching +Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching +Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching +Orphanet:357027 Hereditary retinoblastoma oboInOwl:hasDbXref UMLS:C0751483 semapv:UnspecifiedMatching +Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching +Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching +Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching +Orphanet:357034 Non-hereditary retinoblastoma oboInOwl:hasDbXref UMLS:C5680987 semapv:UnspecifiedMatching +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref MESH:C567192 semapv:UnspecifiedMatching +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref OMIM:612718 semapv:UnspecifiedMatching +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency oboInOwl:hasDbXref UMLS:C2675179 semapv:UnspecifiedMatching +Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref MESH:C566550 semapv:UnspecifiedMatching +Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref OMIM:602433 semapv:UnspecifiedMatching +Orphanet:357043 Amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref UMLS:C1865409 semapv:UnspecifiedMatching +Orphanet:35705 Neurometabolic disorder due to serine deficiency oboInOwl:hasDbXref UMLS:C5680148 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref MESH:C562632 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching +Orphanet:357058 Autosomal recessive cutis laxa type 2A oboInOwl:hasDbXref UMLS:C0268355 semapv:UnspecifiedMatching +Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref MESH:C562818 semapv:UnspecifiedMatching +Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 semapv:UnspecifiedMatching +Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref UMLS:C0342873 semapv:UnspecifiedMatching +Orphanet:35706 Glutaric acidemia type 3 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref MESH:C567855 semapv:UnspecifiedMatching +Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref OMIM:612940 semapv:UnspecifiedMatching +Orphanet:357064 Autosomal recessive cutis laxa type 2B oboInOwl:hasDbXref UMLS:C2751987 semapv:UnspecifiedMatching +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:617402 semapv:UnspecifiedMatching +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref OMIM:617403 semapv:UnspecifiedMatching +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type oboInOwl:hasDbXref UMLS:C5679922 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MESH:C537437 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MedDRA:10084110 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C1291564 semapv:UnspecifiedMatching +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref icd11:5C59.00 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref MESH:C562602 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref MedDRA:10066388 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref OMIM:606824 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref UMLS:C0268186 semapv:UnspecifiedMatching +Orphanet:35710 Glucose-galactose malabsorption oboInOwl:hasDbXref icd11:5C61.0 semapv:UnspecifiedMatching +Orphanet:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:357107 Arterial thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C1956395 semapv:UnspecifiedMatching +Orphanet:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:357131 Venous thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C1956396 semapv:UnspecifiedMatching +Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref ICD10:K13.5 semapv:UnspecifiedMatching +Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref MESH:D009914 semapv:UnspecifiedMatching +Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref MedDRA:10031023 semapv:UnspecifiedMatching +Orphanet:357154 Oral submucous fibrosis oboInOwl:hasDbXref UMLS:C0029172 semapv:UnspecifiedMatching +Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref OMIM:602562 semapv:UnspecifiedMatching +Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome oboInOwl:hasDbXref UMLS:C4750958 semapv:UnspecifiedMatching +Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615162 semapv:UnspecifiedMatching +Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4750957 semapv:UnspecifiedMatching +Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357220 Primary essential cutis verticis gyrata oboInOwl:hasDbXref UMLS:C4707327 semapv:UnspecifiedMatching +Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching +Orphanet:357225 Primary non-essential cutis verticis gyrata oboInOwl:hasDbXref UMLS:C4755295 semapv:UnspecifiedMatching +Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref OMIM:615206 semapv:UnspecifiedMatching +Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency oboInOwl:hasDbXref UMLS:C4749949 semapv:UnspecifiedMatching +Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref OMIM:615207 semapv:UnspecifiedMatching +Orphanet:357329 Combined immunodeficiency due to IL21R deficiency oboInOwl:hasDbXref UMLS:C5191307 semapv:UnspecifiedMatching +Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref OMIM:615170 semapv:UnspecifiedMatching +Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome oboInOwl:hasDbXref UMLS:C3554611 semapv:UnspecifiedMatching +Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref MedDRA:10027974 semapv:UnspecifiedMatching +Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching +Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref UMLS:C3554721 semapv:UnspecifiedMatching +Orphanet:35737 Morning glory disc anomaly oboInOwl:hasDbXref icd11:LA13.7Y semapv:UnspecifiedMatching +Orphanet:357502 Idiopathic nephrotic syndrome oboInOwl:hasDbXref UMLS:C3496337 semapv:UnspecifiedMatching +Orphanet:357506 Genetic non-syndromic renal or urinary tract malformation oboInOwl:hasDbXref UMLS:C5680986 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref MESH:D053579 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref MedDRA:10062906 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref OMIM:263800 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref UMLS:C0268450 semapv:UnspecifiedMatching +Orphanet:358 Gitelman syndrome oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching +Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref MESH:C562841 semapv:UnspecifiedMatching +Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref MedDRA:10061893 semapv:UnspecifiedMatching +Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching +Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref UMLS:C0346180 semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref ICD10:D51.1 semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref MESH:C538556 semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref OMIM:618882 semapv:UnspecifiedMatching +Orphanet:35858 Imerslund-Gräsbeck syndrome oboInOwl:hasDbXref UMLS:C4551825 semapv:UnspecifiedMatching +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref MESH:C538375 semapv:UnspecifiedMatching +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref OMIM:606762 semapv:UnspecifiedMatching +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref UMLS:C1847555 semapv:UnspecifiedMatching +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.0 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.0 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.1 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref ICD10:T40.2 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref UMLS:C0029100 semapv:UnspecifiedMatching +Orphanet:35889 Acute opioid intoxication oboInOwl:hasDbXref icd11:6C43.3 semapv:UnspecifiedMatching +Orphanet:359 Pediatric-onset glaucoma of genetic origin oboInOwl:hasDbXref MESH:C580055 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref MESH:C565577 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:227300 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:227310 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref OMIM:613625 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref UMLS:C1856883 semapv:UnspecifiedMatching +Orphanet:35909 Combined deficiency of factor V and factor VIII oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref MESH:D065706 semapv:UnspecifiedMatching +Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref MedDRA:10073489 semapv:UnspecifiedMatching +Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref UMLS:C0266464 semapv:UnspecifiedMatching +Orphanet:35981 Polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref MESH:D055673 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref MedDRA:10083865 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref UMLS:C0796147 semapv:UnspecifiedMatching +Orphanet:36 Acrocallosal syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref MedDRA:10018336 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref OMIM:613029 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref UMLS:C1621958 semapv:UnspecifiedMatching +Orphanet:360 Glioblastoma oboInOwl:hasDbXref icd11:2A00.00 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref MedDRA:10082603 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:202200 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:202355 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:607398 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:609197 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:614736 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref OMIM:617825 semapv:UnspecifiedMatching +Orphanet:361 Familial glucocorticoid deficiency oboInOwl:hasDbXref UMLS:C4054695 semapv:UnspecifiedMatching +Orphanet:362 NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching +Orphanet:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MESH:D008201 semapv:UnspecifiedMatching +Orphanet:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref MedDRA:10025213 semapv:UnspecifiedMatching +Orphanet:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C0024215 semapv:UnspecifiedMatching +Orphanet:36204 Intestinal lymphangiectasia oboInOwl:hasDbXref icd11:BD92.0 semapv:UnspecifiedMatching +Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching +Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching +Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044248 semapv:UnspecifiedMatching +Orphanet:36234 Bacterial toxic-shock syndrome oboInOwl:hasDbXref UMLS:C0600327 semapv:UnspecifiedMatching +Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref ICD10:A38 semapv:UnspecifiedMatching +Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref MedDRA:10039587 semapv:UnspecifiedMatching +Orphanet:36235 Staphylococcal scarlet fever oboInOwl:hasDbXref icd11:EA50.3 semapv:UnspecifiedMatching +Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref ICD10:L00 semapv:UnspecifiedMatching +Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref ICD10:L00 semapv:UnspecifiedMatching +Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MESH:D013206 semapv:UnspecifiedMatching +Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MedDRA:10041929 semapv:UnspecifiedMatching +Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref UMLS:C0038165 semapv:UnspecifiedMatching +Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref ICD10:L01.0 semapv:UnspecifiedMatching +Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref ICD10:L01.0 semapv:UnspecifiedMatching +Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref MedDRA:10006563 semapv:UnspecifiedMatching +Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref UMLS:C1542647 semapv:UnspecifiedMatching +Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref icd11:1B72.0 semapv:UnspecifiedMatching +Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref ICD10:J15.2 semapv:UnspecifiedMatching +Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref ICD10:J15.2 semapv:UnspecifiedMatching +Orphanet:36238 Staphylococcal necrotizing pneumonia oboInOwl:hasDbXref UMLS:C4706659 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref ICD10:I73.1 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref MESH:D013919 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref MedDRA:10043540 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref OMIM:211480 semapv:UnspecifiedMatching +Orphanet:36258 Buerger disease oboInOwl:hasDbXref UMLS:C0040021 semapv:UnspecifiedMatching +Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref UMLS:C4303226 semapv:UnspecifiedMatching +Orphanet:36273 Gastric linitis plastica oboInOwl:hasDbXref icd11:2B72.0 semapv:UnspecifiedMatching +Orphanet:36297 NON RARE IN EUROPE: Anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching +Orphanet:363189 Congenital anomaly of the great veins oboInOwl:hasDbXref UMLS:C0158632 semapv:UnspecifiedMatching +Orphanet:363203 Ring chromosome oboInOwl:hasDbXref MESH:D012303 semapv:UnspecifiedMatching +Orphanet:363203 Ring chromosome oboInOwl:hasDbXref MedDRA:10081894 semapv:UnspecifiedMatching +Orphanet:363245 Genetic progeroid syndrome oboInOwl:hasDbXref UMLS:C5680983 semapv:UnspecifiedMatching +Orphanet:363250 Ciliopathy oboInOwl:hasDbXref MESH:D000072661 semapv:UnspecifiedMatching +Orphanet:363294 Genetic syndromic Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C5680982 semapv:UnspecifiedMatching +Orphanet:363300 Genetic intractable diarrhea of infancy oboInOwl:hasDbXref UMLS:C5680980 semapv:UnspecifiedMatching +Orphanet:363306 Genetic intestinal disease due to fat malabsorption oboInOwl:hasDbXref UMLS:C5680981 semapv:UnspecifiedMatching +Orphanet:363314 Genetic intestinal polyposis oboInOwl:hasDbXref UMLS:C2713443 semapv:UnspecifiedMatching +Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 semapv:UnspecifiedMatching +Orphanet:363396 High myopia-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5679919 semapv:UnspecifiedMatching +Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref OMIM:615924 semapv:UnspecifiedMatching +Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy oboInOwl:hasDbXref UMLS:C4750956 semapv:UnspecifiedMatching +Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref OMIM:615368 semapv:UnspecifiedMatching +Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome oboInOwl:hasDbXref UMLS:C4706410 semapv:UnspecifiedMatching +Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref OMIM:615281 semapv:UnspecifiedMatching +Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity oboInOwl:hasDbXref UMLS:C4755254 semapv:UnspecifiedMatching +Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref MESH:C536958 semapv:UnspecifiedMatching +Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref OMIM:605282 semapv:UnspecifiedMatching +Orphanet:363417 Temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1854466 semapv:UnspecifiedMatching +Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref OMIM:615330 semapv:UnspecifiedMatching +Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 oboInOwl:hasDbXref UMLS:C3809165 semapv:UnspecifiedMatching +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome oboInOwl:hasDbXref UMLS:C4706388 semapv:UnspecifiedMatching +Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching +Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:613680 semapv:UnspecifiedMatching +Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C3150939 semapv:UnspecifiedMatching +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:615290 semapv:UnspecifiedMatching +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1834690 semapv:UnspecifiedMatching +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.Y semapv:UnspecifiedMatching +Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:615290 semapv:UnspecifiedMatching +Orphanet:363472 Tumor of testis and paratestis oboInOwl:hasDbXref UMLS:C5679920 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.1 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.2 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.7 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.8 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.8 semapv:UnspecifiedMatching +Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref UMLS:C5190800 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref MESH:C562472 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref MedDRA:10073120 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref UMLS:C0238451 semapv:UnspecifiedMatching +Orphanet:363483 Testicular teratoma oboInOwl:hasDbXref icd11:2C80.2 semapv:UnspecifiedMatching +Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching +Orphanet:363489 Sex cord-stromal tumor of testis oboInOwl:hasDbXref UMLS:C3840076 semapv:UnspecifiedMatching +Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref ICD10:C62.1 semapv:UnspecifiedMatching +Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref ICD10:C62.1 semapv:UnspecifiedMatching +Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching +Orphanet:363494 Non-seminomatous germ cell tumor of testis oboInOwl:hasDbXref UMLS:C2057625 semapv:UnspecifiedMatching +Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref MESH:C563236 semapv:UnspecifiedMatching +Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref MedDRA:10075811 semapv:UnspecifiedMatching +Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching +Orphanet:363504 Germ cell tumor of testis oboInOwl:hasDbXref UMLS:C1336708 semapv:UnspecifiedMatching +Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615328 semapv:UnspecifiedMatching +Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C3809160 semapv:UnspecifiedMatching +Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref OMIM:615286 semapv:UnspecifiedMatching +Orphanet:363528 Intellectual disability-strabismus syndrome oboInOwl:hasDbXref UMLS:C4750838 semapv:UnspecifiedMatching +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref UMLS:C5190602 semapv:UnspecifiedMatching +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref OMIM:615651 semapv:UnspecifiedMatching +Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref UMLS:C4554120 semapv:UnspecifiedMatching +Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching +Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref UMLS:C4707658 semapv:UnspecifiedMatching +Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref OMIM:609821 semapv:UnspecifiedMatching +Orphanet:36355 Bleeding disorder due to P2Y12 defect oboInOwl:hasDbXref UMLS:C5680149 semapv:UnspecifiedMatching +Orphanet:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref ICD10:G41.8 semapv:UnspecifiedMatching +Orphanet:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref ICD10:G41.8 semapv:UnspecifiedMatching +Orphanet:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref UMLS:C4749462 semapv:UnspecifiedMatching +Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus oboInOwl:hasDbXref UMLS:C5680984 semapv:UnspecifiedMatching +Orphanet:363579 Extragonadal germ cell tumor oboInOwl:hasDbXref UMLS:C0262963 semapv:UnspecifiedMatching +Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref OMIM:615502 semapv:UnspecifiedMatching +Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref UMLS:C5680985 semapv:UnspecifiedMatching +Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome oboInOwl:hasDbXref UMLS:C4750858 semapv:UnspecifiedMatching +Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref OMIM:615352 semapv:UnspecifiedMatching +Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 oboInOwl:hasDbXref UMLS:C4518000 semapv:UnspecifiedMatching +Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref OMIM:615381 semapv:UnspecifiedMatching +Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome oboInOwl:hasDbXref UMLS:C3715192 semapv:UnspecifiedMatching +Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref OMIM:300911 semapv:UnspecifiedMatching +Orphanet:363654 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref UMLS:C3806722 semapv:UnspecifiedMatching +Orphanet:363659 20q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:363659 20q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:363659 20q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4706257 semapv:UnspecifiedMatching +Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref OMIM:601812 semapv:UnspecifiedMatching +Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome oboInOwl:hasDbXref UMLS:C1866182 semapv:UnspecifiedMatching +Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref OMIM:612337 semapv:UnspecifiedMatching +Orphanet:36367 Distal deletion 1q oboInOwl:hasDbXref UMLS:C4273897 semapv:UnspecifiedMatching +Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching +Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia oboInOwl:hasDbXref UMLS:C5192594 semapv:UnspecifiedMatching +Orphanet:363680 2p13.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:363680 2p13.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:363680 2p13.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749460 semapv:UnspecifiedMatching +Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref OMIM:615074 semapv:UnspecifiedMatching +Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome oboInOwl:hasDbXref UMLS:C4750954 semapv:UnspecifiedMatching +Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref OMIM:613845 semapv:UnspecifiedMatching +Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome oboInOwl:hasDbXref UMLS:C3151209 semapv:UnspecifiedMatching +Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching +Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref MESH:C567298 semapv:UnspecifiedMatching +Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref OMIM:114620 semapv:UnspecifiedMatching +Orphanet:363705 Craniofaciofrontodigital syndrome oboInOwl:hasDbXref UMLS:C2676032 semapv:UnspecifiedMatching +Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref OMIM:615945 semapv:UnspecifiedMatching +Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref UMLS:C3889636 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref UMLS:C5679915 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref icd11:8A44.2 semapv:UnspecifiedMatching +Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching +Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref UMLS:C5679914 semapv:UnspecifiedMatching +Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref OMIM:300835 semapv:UnspecifiedMatching +Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref UMLS:C5190600 semapv:UnspecifiedMatching +Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:601794 semapv:UnspecifiedMatching +Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4755253 semapv:UnspecifiedMatching +Orphanet:363746 Balint syndrome oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching +Orphanet:363746 Balint syndrome oboInOwl:hasDbXref ICD10:H51.8 semapv:UnspecifiedMatching +Orphanet:363746 Balint syndrome oboInOwl:hasDbXref MedDRA:10057375 semapv:UnspecifiedMatching +Orphanet:363746 Balint syndrome oboInOwl:hasDbXref UMLS:C4707368 semapv:UnspecifiedMatching +Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching +Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching +Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching +Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref UMLS:C4755308 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref UMLS:C4755307 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:162400 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:613640 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:613708 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:615632 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS:C0020071 semapv:UnspecifiedMatching +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref icd11:8C21.0 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref MESH:C565808 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604233 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:604403 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:607681 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:609800 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:612279 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613060 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613828 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:613863 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:616172 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref OMIM:618482 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref UMLS:C3502809 semapv:UnspecifiedMatching +Orphanet:36387 Generalized epilepsy with febrile seizures-plus oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:36388 Paraneoplastic neurologic syndrome oboInOwl:hasDbXref MESH:D020361 semapv:UnspecifiedMatching +Orphanet:36388 Paraneoplastic neurologic syndrome oboInOwl:hasDbXref MedDRA:10072106 semapv:UnspecifiedMatching +Orphanet:36388 Paraneoplastic neurologic syndrome oboInOwl:hasDbXref UMLS:C0751911 semapv:UnspecifiedMatching +Orphanet:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref MESH:C566476 semapv:UnspecifiedMatching +Orphanet:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching +Orphanet:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref UMLS:C1864871 semapv:UnspecifiedMatching +Orphanet:363958 17q21.31 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5680974 semapv:UnspecifiedMatching +Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:363969 Autosomal recessive cerebral atrophy oboInOwl:hasDbXref UMLS:C4755252 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref MedDRA:10001294 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching +Orphanet:36397 Adiposis dolorosa oboInOwl:hasDbXref UMLS:C0001529 semapv:UnspecifiedMatching +Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching +Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching +Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:613563 semapv:UnspecifiedMatching +Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C4016301 semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref ICD10:D48.0 semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref ICD10:D48.0 semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref MESH:D018212 semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref UMLS:C0206638 semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:2F7B semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:2F9B semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:XH0492 semapv:UnspecifiedMatching +Orphanet:363976 Giant cell tumor of bone oboInOwl:hasDbXref icd11:XH4TC2 semapv:UnspecifiedMatching +Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref OMIM:615284 semapv:UnspecifiedMatching +Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref UMLS:C3695063 semapv:UnspecifiedMatching +Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref MESH:C565564 semapv:UnspecifiedMatching +Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref OMIM:228980 semapv:UnspecifiedMatching +Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref UMLS:C1856718 semapv:UnspecifiedMatching +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref OMIM:613195 semapv:UnspecifiedMatching +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref UMLS:C5190986 semapv:UnspecifiedMatching +Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching +Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching +Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref OMIM:236750 semapv:UnspecifiedMatching +Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref UMLS:C0455988 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref MESH:D005953 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref MedDRA:10018464 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref UMLS:C0017920 semapv:UnspecifiedMatching +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:364013 Immune hydrops fetalis oboInOwl:hasDbXref ICD10:P56.0 semapv:UnspecifiedMatching +Orphanet:364013 Immune hydrops fetalis oboInOwl:hasDbXref UMLS:C0455990 semapv:UnspecifiedMatching +Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref OMIM:300699 semapv:UnspecifiedMatching +Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref UMLS:C5191041 semapv:UnspecifiedMatching +Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oboInOwl:hasDbXref UMLS:C4303422 semapv:UnspecifiedMatching +Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching +Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref UMLS:C1708397 semapv:UnspecifiedMatching +Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1333294 semapv:UnspecifiedMatching +Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref icd11:XH1EB9 semapv:UnspecifiedMatching +Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref MESH:C565741 semapv:UnspecifiedMatching +Orphanet:364055 Severe early-childhood-onset retinal dystrophy oboInOwl:hasDbXref UMLS:C1858080 semapv:UnspecifiedMatching +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref MESH:C567924 semapv:UnspecifiedMatching +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy oboInOwl:hasDbXref UMLS:C4552072 semapv:UnspecifiedMatching +Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching +Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref UMLS:C0343206 semapv:UnspecifiedMatching +Orphanet:36412 Hypocomplementemic urticarial vasculitis oboInOwl:hasDbXref icd11:4A44.91 semapv:UnspecifiedMatching +Orphanet:364198 Bipartite talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:364198 Bipartite talus oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching +Orphanet:364198 Bipartite talus oboInOwl:hasDbXref UMLS:C4706298 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref ICD10:L51.1 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref ICD10:L51.1 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref MESH:D013262 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref MedDRA:10042033 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref OMIM:608579 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref UMLS:C0038325 semapv:UnspecifiedMatching +Orphanet:36426 Stevens-Johnson syndrome oboInOwl:hasDbXref icd11:EB13.0 semapv:UnspecifiedMatching +Orphanet:364526 Primary bone dysplasia oboInOwl:hasDbXref UMLS:C5679916 semapv:UnspecifiedMatching +Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments oboInOwl:hasDbXref UMLS:C5679918 semapv:UnspecifiedMatching +Orphanet:364536 Primary bone dysplasia with micromelia oboInOwl:hasDbXref UMLS:C5679917 semapv:UnspecifiedMatching +Orphanet:364541 Otopalatodigital syndrome spectrum disorder oboInOwl:hasDbXref MESH:C567577 semapv:UnspecifiedMatching +Orphanet:364541 Otopalatodigital syndrome spectrum disorder oboInOwl:hasDbXref MedDRA:10084408 semapv:UnspecifiedMatching +Orphanet:364541 Otopalatodigital syndrome spectrum disorder oboInOwl:hasDbXref UMLS:C2748918 semapv:UnspecifiedMatching +Orphanet:364559 Dysostosis oboInOwl:hasDbXref MESH:D004413 semapv:UnspecifiedMatching +Orphanet:364559 Dysostosis oboInOwl:hasDbXref UMLS:C0013393 semapv:UnspecifiedMatching +Orphanet:364568 Dysostosis with limb anomaly as a major feature oboInOwl:hasDbXref UMLS:C5680979 semapv:UnspecifiedMatching +Orphanet:364571 Dysostosis with limb and face anomalies as a major feature oboInOwl:hasDbXref UMLS:C5680978 semapv:UnspecifiedMatching +Orphanet:364574 Acrofacial dysostosis oboInOwl:hasDbXref UMLS:C1332140 semapv:UnspecifiedMatching +Orphanet:364574 Acrofacial dysostosis oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref OMIM:608670 semapv:UnspecifiedMatching +Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C4706564 semapv:UnspecifiedMatching +Orphanet:364803 Rare bone disease related to a common gene or pathway defect oboInOwl:hasDbXref UMLS:C5680975 semapv:UnspecifiedMatching +Orphanet:364817 Aggrecan-related bone disorder oboInOwl:hasDbXref UMLS:C5680976 semapv:UnspecifiedMatching +Orphanet:364820 TRPV4-related bone disorder oboInOwl:hasDbXref UMLS:C5680977 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MESH:D006009 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref MedDRA:10053185 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref UMLS:C0017921 semapv:UnspecifiedMatching +Orphanet:365 Glycogen storage disease due to acid maltase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:365563 Primary short bowel syndrome oboInOwl:hasDbXref UMLS:C5680971 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref MESH:D006010 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053250 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref OMIM:232400 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017922 semapv:UnspecifiedMatching +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref MESH:D006011 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref MedDRA:10053249 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref OMIM:263570 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref UMLS:C0017923 semapv:UnspecifiedMatching +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:D006012 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10018462 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232600 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0017924 semapv:UnspecifiedMatching +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref MESH:C536096 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref MedDRA:10084572 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:159900 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref OMIM:616398 semapv:UnspecifiedMatching +Orphanet:36899 Myoclonus-dystonia syndrome oboInOwl:hasDbXref UMLS:C1834570 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref MESH:D006013 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10053240 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref OMIM:232700 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0017925 semapv:UnspecifiedMatching +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref UMLS:C0271865 semapv:UnspecifiedMatching +Orphanet:36913 Autoimmune hypoparathyroidism oboInOwl:hasDbXref icd11:5A50.03 semapv:UnspecifiedMatching +Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:615398 semapv:UnspecifiedMatching +Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4749459 semapv:UnspecifiedMatching +Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching +Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref UMLS:C4517996 semapv:UnspecifiedMatching +Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching +Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref UMLS:C5192595 semapv:UnspecifiedMatching +Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref OMIM:615285 semapv:UnspecifiedMatching +Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref UMLS:C4755251 semapv:UnspecifiedMatching +Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref OMIM:616084 semapv:UnspecifiedMatching +Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4707403 semapv:UnspecifiedMatching +Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref OMIM:615376 semapv:UnspecifiedMatching +Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C oboInOwl:hasDbXref UMLS:C4750846 semapv:UnspecifiedMatching +Orphanet:369873 Obesity due to SIM1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:369873 Obesity due to SIM1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:369873 Obesity due to SIM1 deficiency oboInOwl:hasDbXref UMLS:C5191050 semapv:UnspecifiedMatching +Orphanet:369873 Obesity due to SIM1 deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:369881 2p21 microdeletion syndrome without cystinuria oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:369881 2p21 microdeletion syndrome without cystinuria oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:369881 2p21 microdeletion syndrome without cystinuria oboInOwl:hasDbXref UMLS:C4749458 semapv:UnspecifiedMatching +Orphanet:369886 Homozygous 2p21 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5679912 semapv:UnspecifiedMatching +Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency oboInOwl:hasDbXref OMIM:616789 semapv:UnspecifiedMatching +Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency oboInOwl:hasDbXref UMLS:C5192431 semapv:UnspecifiedMatching +Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref OMIM:615471 semapv:UnspecifiedMatching +Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies oboInOwl:hasDbXref UMLS:C5679913 semapv:UnspecifiedMatching +Orphanet:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref OMIM:615440 semapv:UnspecifiedMatching +Orphanet:369913 Combined oxidative phosphorylation defect type 17 oboInOwl:hasDbXref UMLS:C3809526 semapv:UnspecifiedMatching +Orphanet:369920 Pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:369920 Pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:369920 Pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref OMIM:615809 semapv:UnspecifiedMatching +Orphanet:369920 Pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref UMLS:C4014354 semapv:UnspecifiedMatching +Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref OMIM:615474 semapv:UnspecifiedMatching +Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome oboInOwl:hasDbXref UMLS:C5230308 semapv:UnspecifiedMatching +Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching +Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome oboInOwl:hasDbXref UMLS:C4749456 semapv:UnspecifiedMatching +Orphanet:369942 CADDS oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369942 CADDS oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369942 CADDS oboInOwl:hasDbXref MESH:C564508 semapv:UnspecifiedMatching +Orphanet:369942 CADDS oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching +Orphanet:369942 CADDS oboInOwl:hasDbXref UMLS:C3806634 semapv:UnspecifiedMatching +Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome oboInOwl:hasDbXref UMLS:C4749455 semapv:UnspecifiedMatching +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref OMIM:614857 semapv:UnspecifiedMatching +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref OMIM:309541 semapv:UnspecifiedMatching +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref OMIM:615458 semapv:UnspecifiedMatching +Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref UMLS:C4751602 semapv:UnspecifiedMatching +Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome oboInOwl:hasDbXref UMLS:C5190599 semapv:UnspecifiedMatching +Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref OMIM:615508 semapv:UnspecifiedMatching +Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome oboInOwl:hasDbXref UMLS:C3809719 semapv:UnspecifiedMatching +Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching +Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures oboInOwl:hasDbXref UMLS:C4755309 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref MESH:C538178 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref MedDRA:10000596 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref UMLS:C0221036 semapv:UnspecifiedMatching +Orphanet:37 Acrodermatitis enteropathica oboInOwl:hasDbXref icd11:5C64.20 semapv:UnspecifiedMatching +Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref MESH:C580130 semapv:UnspecifiedMatching +Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref MedDRA:10083034 semapv:UnspecifiedMatching +Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0268147 semapv:UnspecifiedMatching +Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching +Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref UMLS:C4755302 semapv:UnspecifiedMatching +Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref OMIM:615926 semapv:UnspecifiedMatching +Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome oboInOwl:hasDbXref UMLS:C4750848 semapv:UnspecifiedMatching +Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref OMIM:618728 semapv:UnspecifiedMatching +Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref OMIM:615960 semapv:UnspecifiedMatching +Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref UMLS:C4014821 semapv:UnspecifiedMatching +Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation oboInOwl:hasDbXref UMLS:C4511003 semapv:UnspecifiedMatching +Orphanet:370034 Familial syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching +Orphanet:370034 Familial syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching +Orphanet:370034 Familial syringomyelia oboInOwl:hasDbXref UMLS:C5680970 semapv:UnspecifiedMatching +Orphanet:370034 Familial syringomyelia oboInOwl:hasDbXref icd11:8D66 semapv:UnspecifiedMatching +Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:370039 Angora hair nevus oboInOwl:hasDbXref UMLS:C4751601 semapv:UnspecifiedMatching +Orphanet:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:370046 Didymosis aplasticosebacea oboInOwl:hasDbXref UMLS:C4751600 semapv:UnspecifiedMatching +Orphanet:370052 SCALP syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:370052 SCALP syndrome oboInOwl:hasDbXref UMLS:C4751599 semapv:UnspecifiedMatching +Orphanet:370059 NEVADA syndrome oboInOwl:hasDbXref ICD10:Q84.8 semapv:UnspecifiedMatching +Orphanet:370059 NEVADA syndrome oboInOwl:hasDbXref UMLS:C4751431 semapv:UnspecifiedMatching +Orphanet:370068 Fetal anticonvulsant syndrome oboInOwl:hasDbXref MedDRA:10066485 semapv:UnspecifiedMatching +Orphanet:370068 Fetal anticonvulsant syndrome oboInOwl:hasDbXref UMLS:C1739111 semapv:UnspecifiedMatching +Orphanet:370076 Fetal carbamazepine syndrome oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:370076 Fetal carbamazepine syndrome oboInOwl:hasDbXref UMLS:C0432370 semapv:UnspecifiedMatching +Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:614671 semapv:UnspecifiedMatching +Orphanet:370079 Proximal 16p11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C4707332 semapv:UnspecifiedMatching +Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching +Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref OMIM:615438 semapv:UnspecifiedMatching +Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome oboInOwl:hasDbXref UMLS:C4751598 semapv:UnspecifiedMatching +Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref OMIM:615312 semapv:UnspecifiedMatching +Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref UMLS:C3888401 semapv:UnspecifiedMatching +Orphanet:370091 Oculocutaneous albinism type 5 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref OMIM:113750 semapv:UnspecifiedMatching +Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref UMLS:C3805375 semapv:UnspecifiedMatching +Orphanet:370097 Oculocutaneous albinism type 6 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching +Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref UMLS:C5190526 semapv:UnspecifiedMatching +Orphanet:370103 Primary dystonia, DYT17 type oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation oboInOwl:hasDbXref UMLS:C5680969 semapv:UnspecifiedMatching +Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref MESH:C566865 semapv:UnspecifiedMatching +Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref UMLS:C1876175 semapv:UnspecifiedMatching +Orphanet:370114 Combined cervical dystonia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:370114 Combined cervical dystonia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref UMLS:C4305375 semapv:UnspecifiedMatching +Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref MESH:C536702 semapv:UnspecifiedMatching +Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref UMLS:C2931293 semapv:UnspecifiedMatching +Orphanet:370131 White platelet syndrome oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching +Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching +Orphanet:370334 Extraskeletal Ewing sarcoma oboInOwl:hasDbXref UMLS:C0279980 semapv:UnspecifiedMatching +Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref MESH:D018241 semapv:UnspecifiedMatching +Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching +Orphanet:370348 Peripheral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C0684337 semapv:UnspecifiedMatching +Orphanet:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:370396 Small cell carcinoma of the ovary oboInOwl:hasDbXref UMLS:C2212006 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MESH:C580192 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref UMLS:C0342288 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching +Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref OMIM:615596 semapv:UnspecifiedMatching +Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref UMLS:C3810062 semapv:UnspecifiedMatching +Orphanet:370921 STT3A-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref MESH:C535751 semapv:UnspecifiedMatching +Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref OMIM:615597 semapv:UnspecifiedMatching +Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref UMLS:C2931007 semapv:UnspecifiedMatching +Orphanet:370924 STT3B-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref OMIM:300934 semapv:UnspecifiedMatching +Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref UMLS:C4012395 semapv:UnspecifiedMatching +Orphanet:370927 SSR4-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:370930 XYLT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370930 XYLT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370930 XYLT1-CDG oboInOwl:hasDbXref UMLS:C4750849 semapv:UnspecifiedMatching +Orphanet:370930 XYLT1-CDG oboInOwl:hasDbXref icd11:5C54.1 semapv:UnspecifiedMatching +Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching +Orphanet:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:615553 semapv:UnspecifiedMatching +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref UMLS:C4518080 semapv:UnspecifiedMatching +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy oboInOwl:hasDbXref UMLS:C5679911 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613151 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:613156 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref OMIM:615351 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref UMLS:C5190848 semapv:UnspecifiedMatching +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:613156 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:615351 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref OMIM:618992 semapv:UnspecifiedMatching +Orphanet:370968 Congenital muscular dystrophy with intellectual disability oboInOwl:hasDbXref UMLS:C5190846 semapv:UnspecifiedMatching +Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching +Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref OMIM:613152 semapv:UnspecifiedMatching +Orphanet:370980 Congenital muscular dystrophy without intellectual disability oboInOwl:hasDbXref UMLS:C5190847 semapv:UnspecifiedMatching +Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref OMIM:616538 semapv:UnspecifiedMatching +Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy oboInOwl:hasDbXref UMLS:C5191414 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref MESH:D006014 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref MedDRA:10053241 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref OMIM:232800 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref UMLS:C0017926 semapv:UnspecifiedMatching +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:371007 Congenital muscular dystrophy with hyperlaxity oboInOwl:hasDbXref UMLS:C4706389 semapv:UnspecifiedMatching +Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan oboInOwl:hasDbXref UMLS:C2936406 semapv:UnspecifiedMatching +Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan oboInOwl:hasDbXref UMLS:C5679905 semapv:UnspecifiedMatching +Orphanet:371047 Congenital disorder of glycosylation with neurological involvement oboInOwl:hasDbXref UMLS:C5679903 semapv:UnspecifiedMatching +Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature oboInOwl:hasDbXref UMLS:C5679904 semapv:UnspecifiedMatching +Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement oboInOwl:hasDbXref UMLS:C5679910 semapv:UnspecifiedMatching +Orphanet:371176 Congenital disorder of glycosylation with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5679907 semapv:UnspecifiedMatching +Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature oboInOwl:hasDbXref UMLS:C5679906 semapv:UnspecifiedMatching +Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement oboInOwl:hasDbXref UMLS:C5679909 semapv:UnspecifiedMatching +Orphanet:371195 Congenital disorder of glycosylation-related bone disorder oboInOwl:hasDbXref UMLS:C5679908 semapv:UnspecifiedMatching +Orphanet:371200 Congenital disorder of glycosylation with skin involvement oboInOwl:hasDbXref UMLS:C5680020 semapv:UnspecifiedMatching +Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature oboInOwl:hasDbXref UMLS:C5680019 semapv:UnspecifiedMatching +Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature oboInOwl:hasDbXref UMLS:C5680021 semapv:UnspecifiedMatching +Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly oboInOwl:hasDbXref UMLS:C5680018 semapv:UnspecifiedMatching +Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:615419 semapv:UnspecifiedMatching +Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref OMIM:616801 semapv:UnspecifiedMatching +Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome oboInOwl:hasDbXref UMLS:C4706556 semapv:UnspecifiedMatching +Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:259600 semapv:UnspecifiedMatching +Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum oboInOwl:hasDbXref OMIM:277950 semapv:UnspecifiedMatching +Orphanet:371433 Genetic periodic paralysis oboInOwl:hasDbXref UMLS:C5681151 semapv:UnspecifiedMatching +Orphanet:371433 Genetic periodic paralysis oboInOwl:hasDbXref icd11:8C74.1 semapv:UnspecifiedMatching +Orphanet:371436 Genetic neurovascular malformation oboInOwl:hasDbXref UMLS:C5681150 semapv:UnspecifiedMatching +Orphanet:371442 Sphingolipidosis with epilepsy oboInOwl:hasDbXref UMLS:C5681152 semapv:UnspecifiedMatching +Orphanet:371445 Genetic syndromic esophageal malformation oboInOwl:hasDbXref UMLS:C5681148 semapv:UnspecifiedMatching +Orphanet:371861 Genetic hyperaldosteronism oboInOwl:hasDbXref UMLS:C5681149 semapv:UnspecifiedMatching +Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref ICD10:N30.1 semapv:UnspecifiedMatching +Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref ICD10:N30.1 semapv:UnspecifiedMatching +Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching +Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref MedDRA:10011796 semapv:UnspecifiedMatching +Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref UMLS:C0282488 semapv:UnspecifiedMatching +Orphanet:37202 Interstitial cystitis oboInOwl:hasDbXref icd11:GC00.3 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MESH:C537340 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MedDRA:10085695 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching +Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref UMLS:C4317043 semapv:UnspecifiedMatching +Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching +Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching +Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref UMLS:C0265240 semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:M31.0+ semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:M31.0+ semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:N08.5* semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:N08.5* semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref MESH:D019867 semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref MedDRA:10018620 semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref OMIM:233450 semapv:UnspecifiedMatching +Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref UMLS:C0403529 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref MESH:D050030 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref MedDRA:10083859 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref OMIM:170390 semapv:UnspecifiedMatching +Orphanet:37553 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS:C1563715 semapv:UnspecifiedMatching +Orphanet:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:37559 Acquired kinky hair syndrome oboInOwl:hasDbXref UMLS:C0263486 semapv:UnspecifiedMatching +Orphanet:376 Gordon syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:376 Gordon syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:376 Gordon syndrome oboInOwl:hasDbXref MESH:C537288 semapv:UnspecifiedMatching +Orphanet:376 Gordon syndrome oboInOwl:hasDbXref OMIM:114300 semapv:UnspecifiedMatching +Orphanet:376 Gordon syndrome oboInOwl:hasDbXref UMLS:C0220666 semapv:UnspecifiedMatching +Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref MESH:C563278 semapv:UnspecifiedMatching +Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching +Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref UMLS:C1719788 semapv:UnspecifiedMatching +Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref MedDRA:10029358 semapv:UnspecifiedMatching +Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref UMLS:C0543693 semapv:UnspecifiedMatching +Orphanet:376724 Generalized isolated dystonia oboInOwl:hasDbXref UMLS:C5681147 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref ICD10:C44.9 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref ICD10:C44.9 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref MESH:D001478 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref MedDRA:10062804 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref OMIM:109400 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref UMLS:C0004779 semapv:UnspecifiedMatching +Orphanet:377 Gorlin syndrome oboInOwl:hasDbXref icd11:LD2D.4 semapv:UnspecifiedMatching +Orphanet:37748 Schnitzler syndrome oboInOwl:hasDbXref ICD10:L50.8 semapv:UnspecifiedMatching +Orphanet:37748 Schnitzler syndrome oboInOwl:hasDbXref ICD10:L50.8 semapv:UnspecifiedMatching +Orphanet:37748 Schnitzler syndrome oboInOwl:hasDbXref MESH:D019873 semapv:UnspecifiedMatching +Orphanet:37748 Schnitzler syndrome oboInOwl:hasDbXref MedDRA:10062908 semapv:UnspecifiedMatching +Orphanet:37748 Schnitzler syndrome oboInOwl:hasDbXref UMLS:C0524988 semapv:UnspecifiedMatching +Orphanet:37748 Schnitzler syndrome oboInOwl:hasDbXref icd11:EB03 semapv:UnspecifiedMatching +Orphanet:378 NON RARE IN EUROPE: Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching +Orphanet:378 NON RARE IN EUROPE: Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref MedDRA:10008906 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233690 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233700 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:233710 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:306400 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:613960 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref OMIM:618935 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref UMLS:C0018203 semapv:UnspecifiedMatching +Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref MESH:C535653 semapv:UnspecifiedMatching +Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref OMIM:101850 semapv:UnspecifiedMatching +Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref UMLS:C0545044 semapv:UnspecifiedMatching +Orphanet:38 Acrokeratoelastoidosis of Costa oboInOwl:hasDbXref icd11:EC20.32 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MESH:C537300 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MedDRA:10053878 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref OMIM:175700 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS:C0265306 semapv:UnspecifiedMatching +Orphanet:380 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref MedDRA:10081517 semapv:UnspecifiedMatching +Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching +Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching +Orphanet:381 Griscelli syndrome oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching +Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref MESH:C537622 semapv:UnspecifiedMatching +Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref OMIM:612736 semapv:UnspecifiedMatching +Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref UMLS:C0574080 semapv:UnspecifiedMatching +Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching +Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref UMLS:C1844678 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref MESH:C537526 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref MedDRA:10070504 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref OMIM:181600 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref UMLS:C0406767 semapv:UnspecifiedMatching +Orphanet:384 Huriez syndrome oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:385 Neurodegeneration with brain iron accumulation oboInOwl:hasDbXref MESH:C538421 semapv:UnspecifiedMatching +Orphanet:385 Neurodegeneration with brain iron accumulation oboInOwl:hasDbXref UMLS:C2931845 semapv:UnspecifiedMatching +Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref MedDRA:10074610 semapv:UnspecifiedMatching +Orphanet:386 Hepatic cystic hamartoma oboInOwl:hasDbXref UMLS:C1333971 semapv:UnspecifiedMatching +Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa oboInOwl:hasDbXref ICD10:L73.2 semapv:UnspecifiedMatching +Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa oboInOwl:hasDbXref ICD10:L73.2 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref ICD10:Q43.1 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref MedDRA:10010539 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:142623 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:600155 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:600156 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:606874 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:606875 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:608462 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:611644 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:613711 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref OMIM:613712 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref UMLS:C0019569 semapv:UnspecifiedMatching +Orphanet:388 Hirschsprung disease oboInOwl:hasDbXref icd11:LB16.1 semapv:UnspecifiedMatching +Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref OMIM:222748 semapv:UnspecifiedMatching +Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref UMLS:C3495551 semapv:UnspecifiedMatching +Orphanet:38874 Dihydropyrimidinuria oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.0 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.0 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.5 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref ICD10:C96.6 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D006646 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref MedDRA:10069698 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019621 semapv:UnspecifiedMatching +Orphanet:389 Langerhans cell histiocytosis oboInOwl:hasDbXref icd11:2B31.20 semapv:UnspecifiedMatching +Orphanet:39 Acromelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:39 Acromelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:39 Acromelanosis oboInOwl:hasDbXref UMLS:C0406779 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.0 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.0 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.1 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.1 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.2 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.2 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.3 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.3 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.4 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.4 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.5 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.5 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref ICD10:B39.9 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref MedDRA:10020141 semapv:UnspecifiedMatching +Orphanet:390 Histoplasmosis oboInOwl:hasDbXref UMLS:C0019655 semapv:UnspecifiedMatching +Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref MedDRA:10069097 semapv:UnspecifiedMatching +Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref OMIM:603554 semapv:UnspecifiedMatching +Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref UMLS:C2700553 semapv:UnspecifiedMatching +Orphanet:39041 Omenn syndrome oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref ICD10:C69.3 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref ICD10:C69.3 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref MESH:C536494 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref MedDRA:10061252 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:155720 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:606660 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref OMIM:606661 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref UMLS:C0220633 semapv:UnspecifiedMatching +Orphanet:39044 Uveal melanoma oboInOwl:hasDbXref icd11:2D0Y semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.7 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.9 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:236000 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:300221 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref OMIM:400021 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C1333064 semapv:UnspecifiedMatching +Orphanet:391 Classic Hodgkin lymphoma oboInOwl:hasDbXref icd11:2B30.1 semapv:UnspecifiedMatching +Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615541 semapv:UnspecifiedMatching +Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4750851 semapv:UnspecifiedMatching +Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching +Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency oboInOwl:hasDbXref UMLS:C4755296 semapv:UnspecifiedMatching +Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching +Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression oboInOwl:hasDbXref UMLS:C4750853 semapv:UnspecifiedMatching +Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref OMIM:605913 semapv:UnspecifiedMatching +Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref UMLS:C4750854 semapv:UnspecifiedMatching +Orphanet:391320 East Texas bleeding disorder oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref OMIM:302030 semapv:UnspecifiedMatching +Orphanet:391327 X-linked calvarial hyperostosis oboInOwl:hasDbXref UMLS:C5190611 semapv:UnspecifiedMatching +Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref ICD10:M80.5 semapv:UnspecifiedMatching +Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref ICD10:M80.5 semapv:UnspecifiedMatching +Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref OMIM:300910 semapv:UnspecifiedMatching +Orphanet:391330 X-linked osteoporosis with fractures oboInOwl:hasDbXref UMLS:C5190610 semapv:UnspecifiedMatching +Orphanet:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:391343 Fatal post-viral neurodegenerative disorder oboInOwl:hasDbXref UMLS:C4751597 semapv:UnspecifiedMatching +Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:615578 semapv:UnspecifiedMatching +Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome oboInOwl:hasDbXref UMLS:C4751596 semapv:UnspecifiedMatching +Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref OMIM:616684 semapv:UnspecifiedMatching +Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C4225246 semapv:UnspecifiedMatching +Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome oboInOwl:hasDbXref ICD10:K73.8 semapv:UnspecifiedMatching +Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome oboInOwl:hasDbXref ICD10:K73.8 semapv:UnspecifiedMatching +Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome oboInOwl:hasDbXref UMLS:C4751595 semapv:UnspecifiedMatching +Orphanet:391372 FOXP1 Syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:391372 FOXP1 Syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:391372 FOXP1 Syndrome oboInOwl:hasDbXref OMIM:613670 semapv:UnspecifiedMatching +Orphanet:391372 FOXP1 Syndrome oboInOwl:hasDbXref UMLS:C4751594 semapv:UnspecifiedMatching +Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref OMIM:615574 semapv:UnspecifiedMatching +Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome oboInOwl:hasDbXref UMLS:C3809971 semapv:UnspecifiedMatching +Orphanet:391381 Disorder of asparagine metabolism oboInOwl:hasDbXref UMLS:C5681155 semapv:UnspecifiedMatching +Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching +Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching +Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching +Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref UMLS:C5190598 semapv:UnspecifiedMatching +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching +Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref OMIM:615548 semapv:UnspecifiedMatching +Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref UMLS:C3809882 semapv:UnspecifiedMatching +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616033 semapv:UnspecifiedMatching +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref OMIM:616817 semapv:UnspecifiedMatching +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome oboInOwl:hasDbXref UMLS:C5190597 semapv:UnspecifiedMatching +Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching +Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref OMIM:615530 semapv:UnspecifiedMatching +Orphanet:391411 Atypical juvenile parkinsonism oboInOwl:hasDbXref UMLS:C4510873 semapv:UnspecifiedMatching +Orphanet:391417 HSD10 disease oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391417 HSD10 disease oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391417 HSD10 disease oboInOwl:hasDbXref MESH:C564560 semapv:UnspecifiedMatching +Orphanet:391417 HSD10 disease oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching +Orphanet:391417 HSD10 disease oboInOwl:hasDbXref UMLS:C3266731 semapv:UnspecifiedMatching +Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching +Orphanet:391428 HSD10 disease, infantile type oboInOwl:hasDbXref UMLS:C5680025 semapv:UnspecifiedMatching +Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching +Orphanet:391457 HSD10 disease, neonatal type oboInOwl:hasDbXref UMLS:C5680026 semapv:UnspecifiedMatching +Orphanet:391474 Frontorhiny oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:391474 Frontorhiny oboInOwl:hasDbXref OMIM:136760 semapv:UnspecifiedMatching +Orphanet:391474 Frontorhiny oboInOwl:hasDbXref UMLS:C5574965 semapv:UnspecifiedMatching +Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching +Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching +Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref UMLS:C4302671 semapv:UnspecifiedMatching +Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching +Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching +Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref UMLS:C5680024 semapv:UnspecifiedMatching +Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching +Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching +Orphanet:391497 Juvenile myasthenia gravis oboInOwl:hasDbXref UMLS:C5680023 semapv:UnspecifiedMatching +Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref ICD10:P94.0 semapv:UnspecifiedMatching +Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref ICD10:P94.0 semapv:UnspecifiedMatching +Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref UMLS:C0495465 semapv:UnspecifiedMatching +Orphanet:391504 Transient neonatal myasthenia gravis oboInOwl:hasDbXref icd11:KB08.0 semapv:UnspecifiedMatching +Orphanet:391641 Feingold syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391641 Feingold syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391641 Feingold syndrome type 1 oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching +Orphanet:391641 Feingold syndrome type 1 oboInOwl:hasDbXref UMLS:C4551774 semapv:UnspecifiedMatching +Orphanet:391641 Feingold syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching +Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:391651 Glomus tumor oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:391651 Glomus tumor oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:391651 Glomus tumor oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching +Orphanet:391651 Glomus tumor oboInOwl:hasDbXref UMLS:C0017653 semapv:UnspecifiedMatching +Orphanet:391651 Glomus tumor oboInOwl:hasDbXref icd11:2E81.0Z semapv:UnspecifiedMatching +Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref UMLS:C5681154 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref MESH:D000090542 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref MedDRA:10057080 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:144010 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:602247 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:603813 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref UMLS:C0342881 semapv:UnspecifiedMatching +Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:UnspecifiedMatching +Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:UnspecifiedMatching +Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref MESH:D020345 semapv:UnspecifiedMatching +Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref UMLS:C0520459 semapv:UnspecifiedMatching +Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref OMIM:614800 semapv:UnspecifiedMatching +Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome oboInOwl:hasDbXref UMLS:C3541319 semapv:UnspecifiedMatching +Orphanet:391711 Persistent combined dystonia oboInOwl:hasDbXref UMLS:C5681153 semapv:UnspecifiedMatching +Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref MedDRA:10073361 semapv:UnspecifiedMatching +Orphanet:391723 Mucinous adenocarcinoma of the appendix oboInOwl:hasDbXref UMLS:C1706832 semapv:UnspecifiedMatching +Orphanet:391799 Rare genetic dystonia oboInOwl:hasDbXref UMLS:C5680022 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref MESH:C535326 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref MedDRA:10050469 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref UMLS:C0265264 semapv:UnspecifiedMatching +Orphanet:392 Holt-Oram syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref ICD10:Q99.1 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref MESH:D058531 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref MedDRA:10087158 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:278850 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:300833 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching +Orphanet:393 46,XX testicular difference of sex development oboInOwl:hasDbXref UMLS:C2936419 semapv:UnspecifiedMatching +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref MedDRA:10071093 semapv:UnspecifiedMatching +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref UMLS:C0751202 semapv:UnspecifiedMatching +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref OMIM:255100 semapv:UnspecifiedMatching +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type oboInOwl:hasDbXref UMLS:C5680029 semapv:UnspecifiedMatching +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref OMIM:255100 semapv:UnspecifiedMatching +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type oboInOwl:hasDbXref UMLS:C5680028 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref MESH:C537357 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref MedDRA:10070309 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref OMIM:236250 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref UMLS:C1856061 semapv:UnspecifiedMatching +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency oboInOwl:hasDbXref icd11:5C63.1 semapv:UnspecifiedMatching +Orphanet:396 Chronic hiccup oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:396 Chronic hiccup oboInOwl:hasDbXref UMLS:C0744898 semapv:UnspecifiedMatching +Orphanet:396 Chronic hiccup oboInOwl:hasDbXref icd11:8A06.21 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref ICD10:M31.6 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref MedDRA:10018250 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref UMLS:C0039483 semapv:UnspecifiedMatching +Orphanet:397 Giant cell arteritis oboInOwl:hasDbXref icd11:4A44.2 semapv:UnspecifiedMatching +Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref ICD10:B35.8 semapv:UnspecifiedMatching +Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref ICD10:B35.8 semapv:UnspecifiedMatching +Orphanet:397587 Deep dermatophytosis oboInOwl:hasDbXref UMLS:C1395264 semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616489 semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618907 semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618908 semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5681157 semapv:UnspecifiedMatching +Orphanet:397590 Silver-Russell syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref OMIM:615595 semapv:UnspecifiedMatching +Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency oboInOwl:hasDbXref UMLS:C4750855 semapv:UnspecifiedMatching +Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref MESH:C585640 semapv:UnspecifiedMatching +Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching +Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref OMIM:616005 semapv:UnspecifiedMatching +Orphanet:397596 Activated PI3K-delta syndrome oboInOwl:hasDbXref UMLS:C3714976 semapv:UnspecifiedMatching +Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:397606 PrP systemic amyloidosis oboInOwl:hasDbXref UMLS:C4518776 semapv:UnspecifiedMatching +Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q75.3 semapv:UnspecifiedMatching +Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref OMIM:615637 semapv:UnspecifiedMatching +Orphanet:397612 Macrocephaly-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4706573 semapv:UnspecifiedMatching +Orphanet:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref OMIM:615703 semapv:UnspecifiedMatching +Orphanet:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref UMLS:C5190985 semapv:UnspecifiedMatching +Orphanet:397615 Obesity due to CEP19 deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref OMIM:609218 semapv:UnspecifiedMatching +Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome oboInOwl:hasDbXref UMLS:C5190596 semapv:UnspecifiedMatching +Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:602471 semapv:UnspecifiedMatching +Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4751574 semapv:UnspecifiedMatching +Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref ICD10:E22.1 semapv:UnspecifiedMatching +Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref OMIM:615555 semapv:UnspecifiedMatching +Orphanet:397685 Familial hyperprolactinemia oboInOwl:hasDbXref UMLS:C4706551 semapv:UnspecifiedMatching +Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching +Orphanet:397692 Hereditary isolated aplastic anemia oboInOwl:hasDbXref UMLS:C5190891 semapv:UnspecifiedMatching +Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:397695 3q27.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749427 semapv:UnspecifiedMatching +Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome oboInOwl:hasDbXref OMIM:616354 semapv:UnspecifiedMatching +Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome oboInOwl:hasDbXref UMLS:C5190595 semapv:UnspecifiedMatching +Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIM:615636 semapv:UnspecifiedMatching +Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIM:616546 semapv:UnspecifiedMatching +Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy oboInOwl:hasDbXref UMLS:C4518774 semapv:UnspecifiedMatching +Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref OMIM:615643 semapv:UnspecifiedMatching +Orphanet:397725 COASY protein-associated neurodegeneration oboInOwl:hasDbXref UMLS:C4517377 semapv:UnspecifiedMatching +Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref OMIM:616280 semapv:UnspecifiedMatching +Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U oboInOwl:hasDbXref UMLS:C4084821 semapv:UnspecifiedMatching +Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref OMIM:614369 semapv:UnspecifiedMatching +Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome oboInOwl:hasDbXref UMLS:C5190594 semapv:UnspecifiedMatching +Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy oboInOwl:hasDbXref UMLS:C4751573 semapv:UnspecifiedMatching +Orphanet:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:397755 Periodic paralysis with transient compartment-like syndrome oboInOwl:hasDbXref UMLS:C4751572 semapv:UnspecifiedMatching +Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref OMIM:616079 semapv:UnspecifiedMatching +Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies oboInOwl:hasDbXref UMLS:C4751571 semapv:UnspecifiedMatching +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref OMIM:615592 semapv:UnspecifiedMatching +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref OMIM:618204 semapv:UnspecifiedMatching +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency oboInOwl:hasDbXref UMLS:C5190593 semapv:UnspecifiedMatching +Orphanet:397802 T+ B+ severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C5681156 semapv:UnspecifiedMatching +Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching +Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref OMIM:301072 semapv:UnspecifiedMatching +Orphanet:397922 Ferro-cerebro-cutaneous syndrome oboInOwl:hasDbXref UMLS:C4751570 semapv:UnspecifiedMatching +Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref OMIM:615709 semapv:UnspecifiedMatching +Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome oboInOwl:hasDbXref UMLS:C4751569 semapv:UnspecifiedMatching +Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref OMIM:309530 semapv:UnspecifiedMatching +Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome oboInOwl:hasDbXref UMLS:C4751568 semapv:UnspecifiedMatching +Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref OMIM:615895 semapv:UnspecifiedMatching +Orphanet:397937 Polyglucosan body myopathy type 1 oboInOwl:hasDbXref UMLS:C4014605 semapv:UnspecifiedMatching +Orphanet:397941 MAN1B1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:397941 MAN1B1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:397941 MAN1B1-CDG oboInOwl:hasDbXref UMLS:C4518783 semapv:UnspecifiedMatching +Orphanet:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref OMIM:611302 semapv:UnspecifiedMatching +Orphanet:397946 Autosomal spastic paraplegia type 58 oboInOwl:hasDbXref UMLS:C1969796 semapv:UnspecifiedMatching +Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615599 semapv:UnspecifiedMatching +Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4749429 semapv:UnspecifiedMatching +Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching +Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency oboInOwl:hasDbXref UMLS:C5680027 semapv:UnspecifiedMatching +Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref OMIM:615468 semapv:UnspecifiedMatching +Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency oboInOwl:hasDbXref UMLS:C4750906 semapv:UnspecifiedMatching +Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 semapv:UnspecifiedMatching +Orphanet:397968 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref UMLS:C3809655 semapv:UnspecifiedMatching +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref MESH:C564660 semapv:UnspecifiedMatching +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref OMIM:606772 semapv:UnspecifiedMatching +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome oboInOwl:hasDbXref UMLS:C1847522 semapv:UnspecifiedMatching +Orphanet:398043 Malignant tumor of penis oboInOwl:hasDbXref ICD10:C60 semapv:UnspecifiedMatching +Orphanet:398043 Malignant tumor of penis oboInOwl:hasDbXref ICD10:C60 semapv:UnspecifiedMatching +Orphanet:398043 Malignant tumor of penis oboInOwl:hasDbXref MESH:D010412 semapv:UnspecifiedMatching +Orphanet:398043 Malignant tumor of penis oboInOwl:hasDbXref MedDRA:10034299 semapv:UnspecifiedMatching +Orphanet:398043 Malignant tumor of penis oboInOwl:hasDbXref UMLS:C0153601 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching +Orphanet:398053 Adenocarcinoma of the penis oboInOwl:hasDbXref UMLS:C2212153 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.0 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.1 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.2 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.8 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref ICD10:C60.9 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref MedDRA:10059631 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref UMLS:C0238348 semapv:UnspecifiedMatching +Orphanet:398058 Squamous cell carcinoma of the penis oboInOwl:hasDbXref icd11:2C81.0 semapv:UnspecifiedMatching +Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching +Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref UMLS:C4749333 semapv:UnspecifiedMatching +Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching +Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C5575066 semapv:UnspecifiedMatching +Orphanet:398073 Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C3809877 semapv:UnspecifiedMatching +Orphanet:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:398079 SIM1-related Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C5680040 semapv:UnspecifiedMatching +Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref OMIM:185020 semapv:UnspecifiedMatching +Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin oboInOwl:hasDbXref UMLS:C4750907 semapv:UnspecifiedMatching +Orphanet:398091 Secondary neonatal autoimmune disease oboInOwl:hasDbXref UMLS:C5680041 semapv:UnspecifiedMatching +Orphanet:398097 Neonatal antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching +Orphanet:398097 Neonatal antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching +Orphanet:398097 Neonatal antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C4751518 semapv:UnspecifiedMatching +Orphanet:398109 Neonatal autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:398109 Neonatal autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:398109 Neonatal autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C4751517 semapv:UnspecifiedMatching +Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:398117 Neonatal dermatomyositis oboInOwl:hasDbXref UMLS:C4751516 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref MESH:D006086 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref MedDRA:10018651 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref OMIM:614395 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref UMLS:C0018133 semapv:UnspecifiedMatching +Orphanet:39812 Graft versus host disease oboInOwl:hasDbXref icd11:4B24 semapv:UnspecifiedMatching +Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref MESH:C536397 semapv:UnspecifiedMatching +Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref MedDRA:10057887 semapv:UnspecifiedMatching +Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref UMLS:C0409979 semapv:UnspecifiedMatching +Orphanet:398124 Neonatal lupus erythematosus oboInOwl:hasDbXref icd11:KA07.0 semapv:UnspecifiedMatching +Orphanet:398127 Neonatal scleroderma oboInOwl:hasDbXref ICD10:P83.8 semapv:UnspecifiedMatching +Orphanet:398127 Neonatal scleroderma oboInOwl:hasDbXref UMLS:C4509425 semapv:UnspecifiedMatching +Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref ICD10:G50.1 semapv:UnspecifiedMatching +Orphanet:398147 Persistent idiopathic facial pain oboInOwl:hasDbXref UMLS:C5191641 semapv:UnspecifiedMatching +Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref MESH:C537865 semapv:UnspecifiedMatching +Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref OMIM:601452 semapv:UnspecifiedMatching +Orphanet:398156 Oculoauriculofrontonasal syndrome oboInOwl:hasDbXref UMLS:C1832352 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref MESH:D000090303 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:136500 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:227260 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:614973 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref OMIM:614974 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref UMLS:C2936827 semapv:UnspecifiedMatching +Orphanet:398166 Focal facial dermal dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref OMIM:614973 semapv:UnspecifiedMatching +Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref UMLS:C3554245 semapv:UnspecifiedMatching +Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref OMIM:614974 semapv:UnspecifiedMatching +Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:398934 Malignant epithelial tumor of ovary oboInOwl:hasDbXref MedDRA:10061328 semapv:UnspecifiedMatching +Orphanet:398934 Malignant epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C0677886 semapv:UnspecifiedMatching +Orphanet:398940 Malignant non-epithelial tumor of ovary oboInOwl:hasDbXref UMLS:C5680039 semapv:UnspecifiedMatching +Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:398961 Mucinous adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C4518746 semapv:UnspecifiedMatching +Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref UMLS:C1518693 semapv:UnspecifiedMatching +Orphanet:398971 Clear cell adenocarcinoma of the ovary oboInOwl:hasDbXref icd11:2C73.00 semapv:UnspecifiedMatching +Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:398987 Malignant teratoma of ovary oboInOwl:hasDbXref UMLS:C0346182 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref MESH:D006816 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref MedDRA:10070668 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching +Orphanet:399 Huntington disease oboInOwl:hasDbXref UMLS:C0020179 semapv:UnspecifiedMatching +Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref OMIM:608810 semapv:UnspecifiedMatching +Orphanet:399058 Alpha-B crystallin-related late-onset myopathy oboInOwl:hasDbXref UMLS:C5191079 semapv:UnspecifiedMatching +Orphanet:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399081 KLHL9-related early-onset distal myopathy oboInOwl:hasDbXref UMLS:C4706574 semapv:UnspecifiedMatching +Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref MESH:C566445 semapv:UnspecifiedMatching +Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref OMIM:610099 semapv:UnspecifiedMatching +Orphanet:399086 Finnish upper limb-onset distal myopathy oboInOwl:hasDbXref UMLS:C1864706 semapv:UnspecifiedMatching +Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref MESH:C567645 semapv:UnspecifiedMatching +Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref OMIM:613319 semapv:UnspecifiedMatching +Orphanet:399096 Distal anoctaminopathy oboInOwl:hasDbXref UMLS:C2750076 semapv:UnspecifiedMatching +Orphanet:399103 Distal nebulin myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:399103 Distal nebulin myopathy oboInOwl:hasDbXref UMLS:C5190827 semapv:UnspecifiedMatching +Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref ICD10:M87 semapv:UnspecifiedMatching +Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref ICD10:M87 semapv:UnspecifiedMatching +Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref MESH:D010020 semapv:UnspecifiedMatching +Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref MedDRA:10031264 semapv:UnspecifiedMatching +Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref UMLS:C0029445 semapv:UnspecifiedMatching +Orphanet:399169 Secondary avascular necrosis oboInOwl:hasDbXref UMLS:C5680036 semapv:UnspecifiedMatching +Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 semapv:UnspecifiedMatching +Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 semapv:UnspecifiedMatching +Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.1 semapv:UnspecifiedMatching +Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.1 semapv:UnspecifiedMatching +Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.3 semapv:UnspecifiedMatching +Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.3 semapv:UnspecifiedMatching +Orphanet:399180 Secondary non-traumatic avascular necrosis oboInOwl:hasDbXref UMLS:C5192430 semapv:UnspecifiedMatching +Orphanet:399185 Rare hereditary disease with avascular necrosis oboInOwl:hasDbXref UMLS:C5681170 semapv:UnspecifiedMatching +Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching +Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching +Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref MedDRA:10064658 semapv:UnspecifiedMatching +Orphanet:399293 Osteonecrosis of the jaw oboInOwl:hasDbXref UMLS:C2711248 semapv:UnspecifiedMatching +Orphanet:399302 Primary avascular necrosis oboInOwl:hasDbXref UMLS:C5680038 semapv:UnspecifiedMatching +Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 semapv:UnspecifiedMatching +Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 semapv:UnspecifiedMatching +Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching +Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref UMLS:C0029429 semapv:UnspecifiedMatching +Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching +Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching +Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref UMLS:C0158441 semapv:UnspecifiedMatching +Orphanet:399380 Osteonecrosis of genetic origin oboInOwl:hasDbXref UMLS:C5680035 semapv:UnspecifiedMatching +Orphanet:399388 Avascular necrosis of genetic origin oboInOwl:hasDbXref UMLS:C5681169 semapv:UnspecifiedMatching +Orphanet:399391 Osteochondrosis of genetic origin oboInOwl:hasDbXref UMLS:C5681168 semapv:UnspecifiedMatching +Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder oboInOwl:hasDbXref UMLS:C5680034 semapv:UnspecifiedMatching +Orphanet:399584 Rare male infertility due to adrenal disorder oboInOwl:hasDbXref UMLS:C5681164 semapv:UnspecifiedMatching +Orphanet:399685 Rare male infertility due to testicular endocrine disorder oboInOwl:hasDbXref UMLS:C5681163 semapv:UnspecifiedMatching +Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder oboInOwl:hasDbXref UMLS:C5680033 semapv:UnspecifiedMatching +Orphanet:399771 Male infertility due to sperm disorder oboInOwl:hasDbXref UMLS:C5681162 semapv:UnspecifiedMatching +Orphanet:399775 Male infertility with spermatogenesis disorder oboInOwl:hasDbXref UMLS:C5681167 semapv:UnspecifiedMatching +Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation oboInOwl:hasDbXref UMLS:C5681166 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:108420 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:258150 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:270960 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:305700 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:309120 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:399805 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:613957 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615081 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615413 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615841 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615842 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:616950 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617706 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617707 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:617960 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618086 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618110 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:618115 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619108 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619202 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619379 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619380 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619515 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619528 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619585 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619645 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619646 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619672 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619673 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619689 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619696 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619712 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619799 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619803 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619805 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619826 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619828 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619867 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619878 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619937 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619949 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620084 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620103 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620170 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620196 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:620222 semapv:UnspecifiedMatching +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation oboInOwl:hasDbXref UMLS:C5681165 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:102530 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:243060 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:301059 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:615413 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619044 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619094 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619095 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619102 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619144 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619145 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619177 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref OMIM:619258 semapv:UnspecifiedMatching +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation oboInOwl:hasDbXref UMLS:C4706677 semapv:UnspecifiedMatching +Orphanet:399813 Male infertility due to sperm motility disorder oboInOwl:hasDbXref UMLS:C5680032 semapv:UnspecifiedMatching +Orphanet:399824 Rare disorder with obstructive azoospermia oboInOwl:hasDbXref UMLS:C5680031 semapv:UnspecifiedMatching +Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder oboInOwl:hasDbXref UMLS:C5680030 semapv:UnspecifiedMatching +Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5681158 semapv:UnspecifiedMatching +Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5681161 semapv:UnspecifiedMatching +Orphanet:399849 Rare female infertility due to an adrenal disorder oboInOwl:hasDbXref UMLS:C5681160 semapv:UnspecifiedMatching +Orphanet:399853 Rare female infertility due to an anomaly of ovarian function oboInOwl:hasDbXref UMLS:C5681159 semapv:UnspecifiedMatching +Orphanet:399877 Rare female infertility due to gonadal dysgenesis oboInOwl:hasDbXref UMLS:C5680010 semapv:UnspecifiedMatching +Orphanet:399882 Rare female infertility due to an implantation defect oboInOwl:hasDbXref UMLS:C5681135 semapv:UnspecifiedMatching +Orphanet:399980 Rare genetic male infertility oboInOwl:hasDbXref UMLS:C5681134 semapv:UnspecifiedMatching +Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin oboInOwl:hasDbXref UMLS:C5680009 semapv:UnspecifiedMatching +Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin oboInOwl:hasDbXref UMLS:C5681133 semapv:UnspecifiedMatching +Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin oboInOwl:hasDbXref UMLS:C5680008 semapv:UnspecifiedMatching +Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref MESH:C535661 semapv:UnspecifiedMatching +Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:602875 semapv:UnspecifiedMatching +Orphanet:40 Acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C1864356 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.0 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.1 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.2 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.3 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.4 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.5 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.6 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.7 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.7 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.8 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.8 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.9 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref ICD10:B67.9 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref MESH:D004443 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref MedDRA:10014096 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref UMLS:C4553297 semapv:UnspecifiedMatching +Orphanet:400 Cystic echinococcosis oboInOwl:hasDbXref icd11:1F73.Z semapv:UnspecifiedMatching +Orphanet:400003 Rare genetic disorder with obstructive azoospermia oboInOwl:hasDbXref UMLS:C5680007 semapv:UnspecifiedMatching +Orphanet:400008 Rare genetic female infertility oboInOwl:hasDbXref UMLS:C5681132 semapv:UnspecifiedMatching +Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin oboInOwl:hasDbXref UMLS:C5680011 semapv:UnspecifiedMatching +Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin oboInOwl:hasDbXref UMLS:C5681138 semapv:UnspecifiedMatching +Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin oboInOwl:hasDbXref UMLS:C5681137 semapv:UnspecifiedMatching +Orphanet:400025 Female infertility due to an implantation defect of genetic origin oboInOwl:hasDbXref UMLS:C5681136 semapv:UnspecifiedMatching +Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching +Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching +Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:M07.3 semapv:UnspecifiedMatching +Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref ICD10:B71.0 semapv:UnspecifiedMatching +Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref ICD10:B71.0 semapv:UnspecifiedMatching +Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref MESH:D006925 semapv:UnspecifiedMatching +Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref MedDRA:10020546 semapv:UnspecifiedMatching +Orphanet:401 Hymenolepiasis oboInOwl:hasDbXref UMLS:C0020413 semapv:UnspecifiedMatching +Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref OMIM:615715 semapv:UnspecifiedMatching +Orphanet:401764 Pancytopenia-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4751507 semapv:UnspecifiedMatching +Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref OMIM:615673 semapv:UnspecifiedMatching +Orphanet:401768 Proximal myopathy with extrapyramidal signs oboInOwl:hasDbXref UMLS:C4749430 semapv:UnspecifiedMatching +Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10083269 semapv:UnspecifiedMatching +Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref OMIM:615722 semapv:UnspecifiedMatching +Orphanet:401777 Optic atrophy-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C3810363 semapv:UnspecifiedMatching +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref OMIM:615685 semapv:UnspecifiedMatching +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 oboInOwl:hasDbXref UMLS:C3810294 semapv:UnspecifiedMatching +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref OMIM:615681 semapv:UnspecifiedMatching +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 oboInOwl:hasDbXref UMLS:C4284588 semapv:UnspecifiedMatching +Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401795 Autosomal recessive spastic paraplegia type 59 oboInOwl:hasDbXref UMLS:C4750857 semapv:UnspecifiedMatching +Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401800 Autosomal recessive spastic paraplegia type 60 oboInOwl:hasDbXref UMLS:C5190589 semapv:UnspecifiedMatching +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref OMIM:615686 semapv:UnspecifiedMatching +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 oboInOwl:hasDbXref UMLS:C3810295 semapv:UnspecifiedMatching +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref OMIM:615683 semapv:UnspecifiedMatching +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 oboInOwl:hasDbXref UMLS:C3810289 semapv:UnspecifiedMatching +Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401815 Autosomal recessive spastic paraplegia type 66 oboInOwl:hasDbXref UMLS:C5190590 semapv:UnspecifiedMatching +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref OMIM:615802 semapv:UnspecifiedMatching +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref UMLS:C4707829 semapv:UnspecifiedMatching +Orphanet:401825 Autosomal recessive spastic paraplegia type 68 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching +Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref UMLS:C5190577 semapv:UnspecifiedMatching +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref OMIM:620323 semapv:UnspecifiedMatching +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 oboInOwl:hasDbXref UMLS:C4749431 semapv:UnspecifiedMatching +Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401840 Autosomal recessive spastic paraplegia type 71 oboInOwl:hasDbXref UMLS:C5190578 semapv:UnspecifiedMatching +Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:401849 Autosomal spastic paraplegia type 72 oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching +Orphanet:401854 Lipoic acid biosynthesis defect oboInOwl:hasDbXref UMLS:C5680006 semapv:UnspecifiedMatching +Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref OMIM:614462 semapv:UnspecifiedMatching +Orphanet:401859 Lipoic acid synthetase deficiency oboInOwl:hasDbXref UMLS:C5190587 semapv:UnspecifiedMatching +Orphanet:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref OMIM:616299 semapv:UnspecifiedMatching +Orphanet:401862 Lipoyl transferase 1 deficiency oboInOwl:hasDbXref UMLS:C5190588 semapv:UnspecifiedMatching +Orphanet:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref OMIM:616859 semapv:UnspecifiedMatching +Orphanet:401866 Childhood-onset spasticity with hyperglycinemia oboInOwl:hasDbXref UMLS:C4225178 semapv:UnspecifiedMatching +Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref OMIM:605711 semapv:UnspecifiedMatching +Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref UMLS:C3276432 semapv:UnspecifiedMatching +Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref OMIM:614299 semapv:UnspecifiedMatching +Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref UMLS:C3280378 semapv:UnspecifiedMatching +Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions oboInOwl:hasDbXref UMLS:C5190586 semapv:UnspecifiedMatching +Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C5680012 semapv:UnspecifiedMatching +Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref MESH:C537258 semapv:UnspecifiedMatching +Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0334287 semapv:UnspecifiedMatching +Orphanet:401920 Fibrolamellar hepatocellular carcinoma oboInOwl:hasDbXref icd11:2C12.02 semapv:UnspecifiedMatching +Orphanet:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:401923 9q31.1q31.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750910 semapv:UnspecifiedMatching +Orphanet:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:401935 14q24.1q24.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750911 semapv:UnspecifiedMatching +Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching +Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref OMIM:615892 semapv:UnspecifiedMatching +Orphanet:401942 Familial median cleft of the upper and lower lips oboInOwl:hasDbXref UMLS:C4305376 semapv:UnspecifiedMatching +Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching +Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref ICD10:I67.5 semapv:UnspecifiedMatching +Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref OMIM:615750 semapv:UnspecifiedMatching +Orphanet:401945 Moyamoya disease with early-onset achalasia oboInOwl:hasDbXref UMLS:C4305378 semapv:UnspecifiedMatching +Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref OMIM:615751 semapv:UnspecifiedMatching +Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency oboInOwl:hasDbXref UMLS:C4706871 semapv:UnspecifiedMatching +Orphanet:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref OMIM:616055 semapv:UnspecifiedMatching +Orphanet:401953 Episodic ataxia with slurred speech oboInOwl:hasDbXref UMLS:C4015108 semapv:UnspecifiedMatching +Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome oboInOwl:hasDbXref UMLS:C4750913 semapv:UnspecifiedMatching +Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref OMIM:610100 semapv:UnspecifiedMatching +Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons oboInOwl:hasDbXref UMLS:C5190585 semapv:UnspecifiedMatching +Orphanet:401973 MEND syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:401973 MEND syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:401973 MEND syndrome oboInOwl:hasDbXref OMIM:300960 semapv:UnspecifiedMatching +Orphanet:401973 MEND syndrome oboInOwl:hasDbXref UMLS:C4085243 semapv:UnspecifiedMatching +Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref OMIM:613320 semapv:UnspecifiedMatching +Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type oboInOwl:hasDbXref UMLS:C5190608 semapv:UnspecifiedMatching +Orphanet:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref OMIM:613735 semapv:UnspecifiedMatching +Orphanet:401986 1p31p32 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4707828 semapv:UnspecifiedMatching +Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum oboInOwl:hasDbXref UMLS:C5681139 semapv:UnspecifiedMatching +Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching +Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref OMIM:614817 semapv:UnspecifiedMatching +Orphanet:401996 Karyomegalic interstitial nephritis oboInOwl:hasDbXref UMLS:C3553774 semapv:UnspecifiedMatching +Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching +Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref UMLS:C5190822 semapv:UnspecifiedMatching +Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref UMLS:C4518837 semapv:UnspecifiedMatching +Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) oboInOwl:hasDbXref UMLS:C5680013 semapv:UnspecifiedMatching +Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) oboInOwl:hasDbXref UMLS:C2826172 semapv:UnspecifiedMatching +Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref UMLS:C4706584 semapv:UnspecifiedMatching +Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations oboInOwl:hasDbXref UMLS:C4706386 semapv:UnspecifiedMatching +Orphanet:402029 Primary eosinophilic gastrointestinal disease oboInOwl:hasDbXref UMLS:C5680014 semapv:UnspecifiedMatching +Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref MedDRA:10057271 semapv:UnspecifiedMatching +Orphanet:402035 Eosinophilic colitis oboInOwl:hasDbXref UMLS:C0267448 semapv:UnspecifiedMatching +Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref MESH:C537758 semapv:UnspecifiedMatching +Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref OMIM:267300 semapv:UnspecifiedMatching +Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching +Orphanet:402041 Autosomal recessive distal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1864498 semapv:UnspecifiedMatching +Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching +Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref OMIM:109730 semapv:UnspecifiedMatching +Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref OMIM:614823 semapv:UnspecifiedMatching +Orphanet:402075 Familial bicuspid aortic valve oboInOwl:hasDbXref UMLS:C4749284 semapv:UnspecifiedMatching +Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching +Orphanet:402082 Progressive myoclonic epilepsy type 5 oboInOwl:hasDbXref UMLS:C5190799 semapv:UnspecifiedMatching +Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref OMIM:613668 semapv:UnspecifiedMatching +Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref UMLS:C4749432 semapv:UnspecifiedMatching +Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref ICD10:B17.0 semapv:UnspecifiedMatching +Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref ICD10:B17.0 semapv:UnspecifiedMatching +Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref MESH:D003699 semapv:UnspecifiedMatching +Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref MedDRA:10019762 semapv:UnspecifiedMatching +Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref UMLS:C0011226 semapv:UnspecifiedMatching +Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching +Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref UMLS:C3838731 semapv:UnspecifiedMatching +Orphanet:40366 Acitretin/etretinate embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching +Orphanet:40366 Acitretin/etretinate embryopathy oboInOwl:hasDbXref UMLS:C4510941 semapv:UnspecifiedMatching +Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref MESH:C565312 semapv:UnspecifiedMatching +Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching +Orphanet:404 Familial hyperaldosteronism type II oboInOwl:hasDbXref UMLS:C1854107 semapv:UnspecifiedMatching +Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref ICD10:G98 semapv:UnspecifiedMatching +Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref OMIM:615760 semapv:UnspecifiedMatching +Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome oboInOwl:hasDbXref UMLS:C5190583 semapv:UnspecifiedMatching +Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref OMIM:615761 semapv:UnspecifiedMatching +Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency oboInOwl:hasDbXref UMLS:C5190582 semapv:UnspecifiedMatching +Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref OMIM:615879 semapv:UnspecifiedMatching +Orphanet:404443 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref UMLS:C4014545 semapv:UnspecifiedMatching +Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref MedDRA:10083856 semapv:UnspecifiedMatching +Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref OMIM:615873 semapv:UnspecifiedMatching +Orphanet:404448 ADNP syndrome oboInOwl:hasDbXref UMLS:C4014538 semapv:UnspecifiedMatching +Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome oboInOwl:hasDbXref UMLS:C4751506 semapv:UnspecifiedMatching +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref MESH:C000626124 semapv:UnspecifiedMatching +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref OMIM:615273 semapv:UnspecifiedMatching +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome oboInOwl:hasDbXref UMLS:C3808991 semapv:UnspecifiedMatching +Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching +Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching +Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref OMIM:613834 semapv:UnspecifiedMatching +Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome oboInOwl:hasDbXref UMLS:C3151201 semapv:UnspecifiedMatching +Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching +Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:615774 semapv:UnspecifiedMatching +Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:617712 semapv:UnspecifiedMatching +Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref OMIM:618353 semapv:UnspecifiedMatching +Orphanet:404466 Female infertility due to zona pellucida defect oboInOwl:hasDbXref UMLS:C4749433 semapv:UnspecifiedMatching +Orphanet:404469 Rare female infertility due to oocyte maturation defect oboInOwl:hasDbXref UMLS:C5681140 semapv:UnspecifiedMatching +Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref ICD10:G80.1 semapv:UnspecifiedMatching +Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref ICD10:G80.1 semapv:UnspecifiedMatching +Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref OMIM:615075 semapv:UnspecifiedMatching +Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome oboInOwl:hasDbXref UMLS:C5190576 semapv:UnspecifiedMatching +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref OMIM:618272 semapv:UnspecifiedMatching +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome oboInOwl:hasDbXref UMLS:C4748924 semapv:UnspecifiedMatching +Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5681145 semapv:UnspecifiedMatching +Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref OMIM:616949 semapv:UnspecifiedMatching +Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency oboInOwl:hasDbXref UMLS:C4750914 semapv:UnspecifiedMatching +Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref OMIM:615705 semapv:UnspecifiedMatching +Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency oboInOwl:hasDbXref UMLS:C3810326 semapv:UnspecifiedMatching +Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref ICD10:D16.9 semapv:UnspecifiedMatching +Orphanet:404507 Chondromyxoid fibroma oboInOwl:hasDbXref UMLS:C0221290 semapv:UnspecifiedMatching +Orphanet:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref MedDRA:10085663 semapv:UnspecifiedMatching +Orphanet:404511 Clear cell papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C4518333 semapv:UnspecifiedMatching +Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma oboInOwl:hasDbXref UMLS:C4707179 semapv:UnspecifiedMatching +Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 oboInOwl:hasDbXref UMLS:C4749434 semapv:UnspecifiedMatching +Orphanet:404538 X-linked distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C5548214 semapv:UnspecifiedMatching +Orphanet:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching +Orphanet:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching +Orphanet:404546 DITRA oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching +Orphanet:404546 DITRA oboInOwl:hasDbXref UMLS:C4759670 semapv:UnspecifiedMatching +Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching +Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref OMIM:615688 semapv:UnspecifiedMatching +Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref UMLS:C4749403 semapv:UnspecifiedMatching +Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching +Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching +Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:155600 semapv:UnspecifiedMatching +Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:606719 semapv:UnspecifiedMatching +Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref UMLS:C2314896 semapv:UnspecifiedMatching +Orphanet:404568 Dysostosis of genetic origin oboInOwl:hasDbXref UMLS:C5681144 semapv:UnspecifiedMatching +Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature oboInOwl:hasDbXref UMLS:C5681143 semapv:UnspecifiedMatching +Orphanet:404574 Genetic syndrome with limb reduction defects oboInOwl:hasDbXref UMLS:C5681142 semapv:UnspecifiedMatching +Orphanet:404577 Genetic syndrome with limb malformations as a major feature oboInOwl:hasDbXref UMLS:C5681141 semapv:UnspecifiedMatching +Orphanet:404580 Polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C4521004 semapv:UnspecifiedMatching +Orphanet:404584 Rare genetic bone development disorder oboInOwl:hasDbXref UMLS:C5680015 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref UMLS:C1809471 semapv:UnspecifiedMatching +Orphanet:405 Familial hypocalciuric hypercalcemia oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching +Orphanet:406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching +Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching +Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching +Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 semapv:UnspecifiedMatching +Orphanet:407 Glycine encephalopathy oboInOwl:hasDbXref icd11:5C50.70 semapv:UnspecifiedMatching +Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref MESH:C538138 semapv:UnspecifiedMatching +Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching +Orphanet:408 Isolated glycerol kinase deficiency oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MESH:C538377 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref MedDRA:10071311 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref OMIM:144150 semapv:UnspecifiedMatching +Orphanet:409 Hyperkeratosis lenticularis perstans oboInOwl:hasDbXref UMLS:C0263420 semapv:UnspecifiedMatching +Orphanet:40923 Eales disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:40923 Eales disease oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:40923 Eales disease oboInOwl:hasDbXref MESH:C538011 semapv:UnspecifiedMatching +Orphanet:40923 Eales disease oboInOwl:hasDbXref MedDRA:10057429 semapv:UnspecifiedMatching +Orphanet:40923 Eales disease oboInOwl:hasDbXref UMLS:C0271073 semapv:UnspecifiedMatching +Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MESH:C535729 semapv:UnspecifiedMatching +Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref OMIM:127400 semapv:UnspecifiedMatching +Orphanet:41 Dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS:C0406775 semapv:UnspecifiedMatching +Orphanet:411 Hyperlipoproteinemia type 1 oboInOwl:hasDbXref UMLS:C0023817 semapv:UnspecifiedMatching +Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref OMIM:615803 semapv:UnspecifiedMatching +Orphanet:411493 Pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref UMLS:C5190575 semapv:UnspecifiedMatching +Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref ICD10:Q33.4 semapv:UnspecifiedMatching +Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref UMLS:C0340231 semapv:UnspecifiedMatching +Orphanet:411501 Williams-Campbell syndrome oboInOwl:hasDbXref icd11:LA74.Y semapv:UnspecifiedMatching +Orphanet:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching +Orphanet:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5681146 semapv:UnspecifiedMatching +Orphanet:411511 Angelman syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching +Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref UMLS:C5681834 semapv:UnspecifiedMatching +Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching +Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref ICD10:H34.8 semapv:UnspecifiedMatching +Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref MedDRA:10007972 semapv:UnspecifiedMatching +Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref UMLS:C0154841 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching +Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching +Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching +Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C5680016 semapv:UnspecifiedMatching +Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching +Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C5680017 semapv:UnspecifiedMatching +Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref OMIM:614296 semapv:UnspecifiedMatching +Orphanet:411590 Wolfram-like syndrome oboInOwl:hasDbXref UMLS:C4518338 semapv:UnspecifiedMatching +Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref MedDRA:10022472 semapv:UnspecifiedMatching +Orphanet:411593 Insulin autoimmune syndrome oboInOwl:hasDbXref UMLS:C0854359 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:605543 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607060 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:607688 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:614203 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:614251 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref OMIM:616361 semapv:UnspecifiedMatching +Orphanet:411602 Hereditary late-onset Parkinson disease oboInOwl:hasDbXref UMLS:C4274355 semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref MESH:C565655 semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref UMLS:C3537440 semapv:UnspecifiedMatching +Orphanet:411629 Infantile nephropathic cystinosis oboInOwl:hasDbXref icd11:5C60.1 semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:E72.0+ semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref ICD10:N16.3* semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref MESH:C562683 semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref UMLS:C0268626 semapv:UnspecifiedMatching +Orphanet:411634 Juvenile nephropathic cystinosis oboInOwl:hasDbXref icd11:5C60.1 semapv:UnspecifiedMatching +Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref MESH:C535765 semapv:UnspecifiedMatching +Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching +Orphanet:411641 Ocular cystinosis oboInOwl:hasDbXref UMLS:C2931013 semapv:UnspecifiedMatching +Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching +Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia oboInOwl:hasDbXref UMLS:C4749332 semapv:UnspecifiedMatching +Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref ICD10:A31.0 semapv:UnspecifiedMatching +Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref ICD10:A31.0 semapv:UnspecifiedMatching +Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection oboInOwl:hasDbXref UMLS:C3472679 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.1 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.2 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref ICD10:Q60.2 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref MedDRA:10064655 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref OMIM:191830 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref OMIM:615721 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref UMLS:C0542519 semapv:UnspecifiedMatching +Orphanet:411709 Renal agenesis oboInOwl:hasDbXref icd11:LB30.00 semapv:UnspecifiedMatching +Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref ICD10:P00.4 semapv:UnspecifiedMatching +Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref OMIM:615026 semapv:UnspecifiedMatching +Orphanet:411712 Maternal riboflavin deficiency oboInOwl:hasDbXref UMLS:C4750953 semapv:UnspecifiedMatching +Orphanet:411777 Generalized eruptive keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching +Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref UMLS:C4706941 semapv:UnspecifiedMatching +Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615859 semapv:UnspecifiedMatching +Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4750952 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.2 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.2 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MESH:D006952 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref MedDRA:10060751 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching +Orphanet:412 Dysbetalipoproteinemia oboInOwl:hasDbXref UMLS:C0020479 semapv:UnspecifiedMatching +Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref OMIM:601552 semapv:UnspecifiedMatching +Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome oboInOwl:hasDbXref UMLS:C1832167 semapv:UnspecifiedMatching +Orphanet:412035 13q12.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:412035 13q12.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:412035 13q12.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750951 semapv:UnspecifiedMatching +Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref OMIM:615768 semapv:UnspecifiedMatching +Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency oboInOwl:hasDbXref UMLS:C5190574 semapv:UnspecifiedMatching +Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments oboInOwl:hasDbXref UMLS:C4751505 semapv:UnspecifiedMatching +Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome oboInOwl:hasDbXref OMIM:615829 semapv:UnspecifiedMatching +Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4014419 semapv:UnspecifiedMatching +Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref OMIM:615425 semapv:UnspecifiedMatching +Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref UMLS:C4750917 semapv:UnspecifiedMatching +Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref OMIM:615028 semapv:UnspecifiedMatching +Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency oboInOwl:hasDbXref UMLS:C4750918 semapv:UnspecifiedMatching +Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref ICD10:K00.8 semapv:UnspecifiedMatching +Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref MESH:C565114 semapv:UnspecifiedMatching +Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 semapv:UnspecifiedMatching +Orphanet:412206 Primary failure of tooth eruption oboInOwl:hasDbXref UMLS:C1852222 semapv:UnspecifiedMatching +Orphanet:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:412217 Dystonia-aphonia syndrome oboInOwl:hasDbXref UMLS:C5190573 semapv:UnspecifiedMatching +Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 oboInOwl:hasDbXref ICD10:E78.1 semapv:UnspecifiedMatching +Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching +Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref UMLS:C0018425 semapv:UnspecifiedMatching +Orphanet:414726 Genetic facial cleft oboInOwl:hasDbXref UMLS:C5680068 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref MESH:C538380 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref MedDRA:10084220 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref OMIM:238970 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref UMLS:C0268540 semapv:UnspecifiedMatching +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57 semapv:UnspecifiedMatching +Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57 semapv:UnspecifiedMatching +Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref MESH:D007647 semapv:UnspecifiedMatching +Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref MedDRA:10023376 semapv:UnspecifiedMatching +Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C0022610 semapv:UnspecifiedMatching +Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching +Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching +Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching +Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching +Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.9 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref MESH:D006960 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref MedDRA:10020703 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching +Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020501 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref MESH:C563375 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:239200 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref OMIM:618188 semapv:UnspecifiedMatching +Orphanet:417 Neonatal severe primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C1832615 semapv:UnspecifiedMatching +Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref MESH:C535440 semapv:UnspecifiedMatching +Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref OMIM:210370 semapv:UnspecifiedMatching +Orphanet:41751 Bietti crystalline dystrophy oboInOwl:hasDbXref UMLS:C1859486 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref MESH:D000312 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref MedDRA:10010323 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201710 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201810 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202010 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref UMLS:C0001627 semapv:UnspecifiedMatching +Orphanet:418 Congenital adrenal hyperplasia oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:41842 NON RARE IN EUROPE: Fibromyalgia oboInOwl:hasDbXref ICD10:M79.7 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching +Orphanet:418945 Carcinoma of esophagus, salivary gland type oboInOwl:hasDbXref UMLS:C5190854 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching +Orphanet:418951 Undifferentiated carcinoma of esophagus oboInOwl:hasDbXref UMLS:C2188058 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching +Orphanet:418959 Squamous cell carcinoma of the stomach oboInOwl:hasDbXref UMLS:C1333789 semapv:UnspecifiedMatching +Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref MedDRA:10058513 semapv:UnspecifiedMatching +Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref OMIM:239500 semapv:UnspecifiedMatching +Orphanet:419 Hyperprolinemia type 1 oboInOwl:hasDbXref UMLS:C0268529 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536038 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10072654 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 semapv:UnspecifiedMatching +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220710 semapv:UnspecifiedMatching +Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref OMIM:614753 semapv:UnspecifiedMatching +Orphanet:420179 Malan overgrowth syndrome oboInOwl:hasDbXref UMLS:C3553660 semapv:UnspecifiedMatching +Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C3873302 semapv:UnspecifiedMatching +Orphanet:420259 Secondary pulmonary alveolar proteinosis oboInOwl:hasDbXref icd11:CB04.31 semapv:UnspecifiedMatching +Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref ICD10:H83.8 semapv:UnspecifiedMatching +Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref ICD10:H83.8 semapv:UnspecifiedMatching +Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref MESH:D000084322 semapv:UnspecifiedMatching +Orphanet:420402 Semicircular canal dehiscence syndrome oboInOwl:hasDbXref UMLS:C4708600 semapv:UnspecifiedMatching +Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching +Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref UMLS:C3888925 semapv:UnspecifiedMatching +Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref OMIM:615034 semapv:UnspecifiedMatching +Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement oboInOwl:hasDbXref UMLS:C3554374 semapv:UnspecifiedMatching +Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref OMIM:614860 semapv:UnspecifiedMatching +Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref UMLS:C3538999 semapv:UnspecifiedMatching +Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref UMLS:C4324662 semapv:UnspecifiedMatching +Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref MESH:C567516 semapv:UnspecifiedMatching +Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref OMIM:611816 semapv:UnspecifiedMatching +Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2678486 semapv:UnspecifiedMatching +Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref OMIM:615888 semapv:UnspecifiedMatching +Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency oboInOwl:hasDbXref UMLS:C4510815 semapv:UnspecifiedMatching +Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref OMIM:615897 semapv:UnspecifiedMatching +Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency oboInOwl:hasDbXref UMLS:C4706524 semapv:UnspecifiedMatching +Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615849 semapv:UnspecifiedMatching +Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4014479 semapv:UnspecifiedMatching +Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref MESH:C563551 semapv:UnspecifiedMatching +Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref OMIM:159595 semapv:UnspecifiedMatching +Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref UMLS:C1834582 semapv:UnspecifiedMatching +Orphanet:420611 Transient myeloproliferative syndrome oboInOwl:hasDbXref icd11:2A60.40 semapv:UnspecifiedMatching +Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref MESH:C536285 semapv:UnspecifiedMatching +Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref OMIM:242600 semapv:UnspecifiedMatching +Orphanet:42062 Iminoglycinuria oboInOwl:hasDbXref UMLS:C0268654 semapv:UnspecifiedMatching +Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:616099 semapv:UnspecifiedMatching +Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4706686 semapv:UnspecifiedMatching +Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency oboInOwl:hasDbXref OMIM:619407 semapv:UnspecifiedMatching +Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency oboInOwl:hasDbXref UMLS:C5190862 semapv:UnspecifiedMatching +Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref OMIM:617014 semapv:UnspecifiedMatching +Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency oboInOwl:hasDbXref UMLS:C5190863 semapv:UnspecifiedMatching +Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref OMIM:615917 semapv:UnspecifiedMatching +Orphanet:420728 Combined oxidative phosphorylation defect type 20 oboInOwl:hasDbXref UMLS:C4014660 semapv:UnspecifiedMatching +Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref OMIM:615918 semapv:UnspecifiedMatching +Orphanet:420733 Combined oxidative phosphorylation defect type 21 oboInOwl:hasDbXref UMLS:C4706316 semapv:UnspecifiedMatching +Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref MESH:C567453 semapv:UnspecifiedMatching +Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref OMIM:611943 semapv:UnspecifiedMatching +Orphanet:420741 RIDDLE syndrome oboInOwl:hasDbXref UMLS:C2677792 semapv:UnspecifiedMatching +Orphanet:420755 Rare genetic odontal or periodontal disorder oboInOwl:hasDbXref UMLS:C5681204 semapv:UnspecifiedMatching +Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea oboInOwl:hasDbXref UMLS:C4707562 semapv:UnspecifiedMatching +Orphanet:420794 Cono-spondylar dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:420794 Cono-spondylar dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:420794 Cono-spondylar dysplasia oboInOwl:hasDbXref UMLS:C4707860 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref ICD10:I27.0 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:265400 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615343 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension oboInOwl:hasDbXref UMLS:C5679820 semapv:UnspecifiedMatching +Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref OMIM:144700 semapv:UnspecifiedMatching +Orphanet:422526 Hereditary clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS:C1333985 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MESH:D008305 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref MedDRA:10020844 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:145600 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:154275 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:154276 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:600467 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:601887 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref OMIM:601888 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref UMLS:C0024591 semapv:UnspecifiedMatching +Orphanet:423 Malignant hyperthermia of anesthesia oboInOwl:hasDbXref icd11:8C78 semapv:UnspecifiedMatching +Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref OMIM:616053 semapv:UnspecifiedMatching +Orphanet:423275 Spinocerebellar ataxia type 40 oboInOwl:hasDbXref UMLS:C4518336 semapv:UnspecifiedMatching +Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref OMIM:615957 semapv:UnspecifiedMatching +Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref UMLS:C4518337 semapv:UnspecifiedMatching +Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4749647 semapv:UnspecifiedMatching +Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref OMIM:616022 semapv:UnspecifiedMatching +Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref UMLS:C5190861 semapv:UnspecifiedMatching +Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref OMIM:616029 semapv:UnspecifiedMatching +Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome oboInOwl:hasDbXref UMLS:C4014987 semapv:UnspecifiedMatching +Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching +Orphanet:423461 Mucolipidosis type III alpha/beta oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching +Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching +Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref UMLS:C1854896 semapv:UnspecifiedMatching +Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref UMLS:C4517296 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum oboInOwl:hasDbXref UMLS:C5681206 semapv:UnspecifiedMatching +Orphanet:423662 Rare autonomic nervous system disorder oboInOwl:hasDbXref UMLS:C5681205 semapv:UnspecifiedMatching +Orphanet:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C5680070 semapv:UnspecifiedMatching +Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref icd11:LA85.22 semapv:UnspecifiedMatching +Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy oboInOwl:hasDbXref UMLS:C5680071 semapv:UnspecifiedMatching +Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching +Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching +Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref UMLS:C0546999 semapv:UnspecifiedMatching +Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref icd11:1F68.2 semapv:UnspecifiedMatching +Orphanet:423771 Rare carcinoma of stomach oboInOwl:hasDbXref UMLS:C5680069 semapv:UnspecifiedMatching +Orphanet:423776 Hereditary gastric cancer oboInOwl:hasDbXref UMLS:C5680075 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching +Orphanet:423786 Undifferentiated carcinoma of stomach oboInOwl:hasDbXref UMLS:C1336858 semapv:UnspecifiedMatching +Orphanet:423793 Rare tumor of small intestine oboInOwl:hasDbXref UMLS:C5680076 semapv:UnspecifiedMatching +Orphanet:423798 Mesenchymal tumor of small intestine oboInOwl:hasDbXref UMLS:C5680077 semapv:UnspecifiedMatching +Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome oboInOwl:hasDbXref UMLS:C4706585 semapv:UnspecifiedMatching +Orphanet:423957 Rare carcinoma of small intestine oboInOwl:hasDbXref UMLS:C5680078 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.0 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.1 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.2 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.3 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching +Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref UMLS:C4707899 semapv:UnspecifiedMatching +Orphanet:423982 Epithelial tumor of the appendix oboInOwl:hasDbXref UMLS:C5680073 semapv:UnspecifiedMatching +Orphanet:423991 Rare epithelial tumor of colon oboInOwl:hasDbXref UMLS:C5681208 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.2 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.2 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.3 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.3 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.4 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.4 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.5 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.5 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.9 semapv:UnspecifiedMatching +Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref UMLS:C1333100 semapv:UnspecifiedMatching +Orphanet:423998 Rare epithelial tumor of rectum oboInOwl:hasDbXref UMLS:C5680074 semapv:UnspecifiedMatching +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref OMIM:609152 semapv:UnspecifiedMatching +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor oboInOwl:hasDbXref UMLS:C4274306 semapv:UnspecifiedMatching +Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching +Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref ICD10:C20 semapv:UnspecifiedMatching +Orphanet:424002 Squamous cell carcinoma of the rectum oboInOwl:hasDbXref UMLS:C1335690 semapv:UnspecifiedMatching +Orphanet:424010 Epithelial tumor of anal canal oboInOwl:hasDbXref UMLS:C5681209 semapv:UnspecifiedMatching +Orphanet:424013 Carcinoma of the anal canal oboInOwl:hasDbXref MESH:C563020 semapv:UnspecifiedMatching +Orphanet:424013 Carcinoma of the anal canal oboInOwl:hasDbXref UMLS:C0563211 semapv:UnspecifiedMatching +Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching +Orphanet:424016 Adenocarcinoma of the anal canal oboInOwl:hasDbXref UMLS:C1332259 semapv:UnspecifiedMatching +Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref ICD10:C21.1 semapv:UnspecifiedMatching +Orphanet:424019 Squamous cell carcinoma of the anal canal oboInOwl:hasDbXref UMLS:C4301960 semapv:UnspecifiedMatching +Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref OMIM:616230 semapv:UnspecifiedMatching +Orphanet:424027 Progressive myoclonic epilepsy type 8 oboInOwl:hasDbXref UMLS:C5190825 semapv:UnspecifiedMatching +Orphanet:424033 Rare epithelial tumor of pancreas oboInOwl:hasDbXref UMLS:C5680072 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424039 Squamous cell carcinoma of pancreas oboInOwl:hasDbXref UMLS:C2675993 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref MedDRA:10073363 semapv:UnspecifiedMatching +Orphanet:424046 Acinar cell carcinoma of pancreas oboInOwl:hasDbXref UMLS:C0279661 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref UMLS:C2063873 semapv:UnspecifiedMatching +Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching +Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching +Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335304 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1336029 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424073 Serous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335315 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.2 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.7 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas oboInOwl:hasDbXref UMLS:C2007059 semapv:UnspecifiedMatching +Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching +Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome oboInOwl:hasDbXref UMLS:C4707229 semapv:UnspecifiedMatching +Orphanet:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:424107 Congenital myopathy with myasthenic-like onset oboInOwl:hasDbXref UMLS:C4706390 semapv:UnspecifiedMatching +Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:617072 semapv:UnspecifiedMatching +Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C4511482 semapv:UnspecifiedMatching +Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 oboInOwl:hasDbXref UMLS:C5681207 semapv:UnspecifiedMatching +Orphanet:424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5680080 semapv:UnspecifiedMatching +Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5192429 semapv:UnspecifiedMatching +Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4749401 semapv:UnspecifiedMatching +Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4749400 semapv:UnspecifiedMatching +Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:424982 Biliary cystadenocarcinoma oboInOwl:hasDbXref UMLS:C0334286 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4707555 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C23 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.1 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.9 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref ICD10:C24.9 semapv:UnspecifiedMatching +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C4707898 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref MedDRA:10065133 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:604091 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref OMIM:618463 semapv:UnspecifiedMatching +Orphanet:425 Apolipoprotein A-I deficiency oboInOwl:hasDbXref UMLS:C0342898 semapv:UnspecifiedMatching +Orphanet:425003 Inherited digestive cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5681210 semapv:UnspecifiedMatching +Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref MedDRA:10088833 semapv:UnspecifiedMatching +Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching +Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref UMLS:C4014722 semapv:UnspecifiedMatching +Orphanet:425368 Rare epithelial tumor of small intestine oboInOwl:hasDbXref UMLS:C5680079 semapv:UnspecifiedMatching +Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref MedDRA:10070594 semapv:UnspecifiedMatching +Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref UMLS:C4082167 semapv:UnspecifiedMatching +Orphanet:42642 PFAPA syndrome oboInOwl:hasDbXref icd11:DA01.10 semapv:UnspecifiedMatching +Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref MESH:C536919 semapv:UnspecifiedMatching +Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref OMIM:103500 semapv:UnspecifiedMatching +Orphanet:42665 Tietz syndrome oboInOwl:hasDbXref UMLS:C0391816 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:203400 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:606984 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref OMIM:610600 semapv:UnspecifiedMatching +Orphanet:427 Familial hypoaldosteronism oboInOwl:hasDbXref UMLS:C4275180 semapv:UnspecifiedMatching +Orphanet:42738 Severe congenital neutropenia oboInOwl:hasDbXref MedDRA:10052210 semapv:UnspecifiedMatching +Orphanet:42738 Severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1853118 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref MedDRA:10068032 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref OMIM:606519 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref UMLS:C3698479 semapv:UnspecifiedMatching +Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref ICD10:E20.8 semapv:UnspecifiedMatching +Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching +Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIM:615361 semapv:UnspecifiedMatching +Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref UMLS:C4048195 semapv:UnspecifiedMatching +Orphanet:428 Autosomal dominant hypocalcemia oboInOwl:hasDbXref icd11:5A50.0Y semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref MESH:C562937 semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref MedDRA:10020967 semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching +Orphanet:429 Hypochondroplasia oboInOwl:hasDbXref UMLS:C0410529 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref MedDRA:10051260 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref OMIM:302700 semapv:UnspecifiedMatching +Orphanet:43 X-linked adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0162309 semapv:UnspecifiedMatching +Orphanet:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref MESH:C537365 semapv:UnspecifiedMatching +Orphanet:431 Ichthyosis-male hypogonadism syndrome oboInOwl:hasDbXref OMIM:308200 semapv:UnspecifiedMatching +Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching +Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome oboInOwl:hasDbXref UMLS:C4749694 semapv:UnspecifiedMatching +Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching +Orphanet:431149 Combined immunodeficiency due to OX40 deficiency oboInOwl:hasDbXref UMLS:C4707864 semapv:UnspecifiedMatching +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref MESH:C564972 semapv:UnspecifiedMatching +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref OMIM:255125 semapv:UnspecifiedMatching +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref UMLS:C1850718 semapv:UnspecifiedMatching +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency oboInOwl:hasDbXref icd11:5C53.1 semapv:UnspecifiedMatching +Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection oboInOwl:hasDbXref UMLS:C5681211 semapv:UnspecifiedMatching +Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref ICD10:T43.1 semapv:UnspecifiedMatching +Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref MESH:D020230 semapv:UnspecifiedMatching +Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref MedDRA:10040108 semapv:UnspecifiedMatching +Orphanet:43116 Serotonin syndrome oboInOwl:hasDbXref UMLS:C0699828 semapv:UnspecifiedMatching +Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616636 semapv:UnspecifiedMatching +Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref OMIM:616669 semapv:UnspecifiedMatching +Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection oboInOwl:hasDbXref UMLS:C5190882 semapv:UnspecifiedMatching +Orphanet:43117 Acute tricyclic antidepressant poisoning oboInOwl:hasDbXref ICD10:T43.0 semapv:UnspecifiedMatching +Orphanet:43117 Acute tricyclic antidepressant poisoning oboInOwl:hasDbXref UMLS:C5681319 semapv:UnspecifiedMatching +Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect oboInOwl:hasDbXref ICD10:X44 semapv:UnspecifiedMatching +Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect oboInOwl:hasDbXref UMLS:C5681320 semapv:UnspecifiedMatching +Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 semapv:UnspecifiedMatching +Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0751335 semapv:UnspecifiedMatching +Orphanet:431255 Scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies oboInOwl:hasDbXref UMLS:C5680081 semapv:UnspecifiedMatching +Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching +Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref UMLS:C5399872 semapv:UnspecifiedMatching +Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref icd11:8C70.5 semapv:UnspecifiedMatching +Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref OMIM:615658 semapv:UnspecifiedMatching +Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref UMLS:C3714897 semapv:UnspecifiedMatching +Orphanet:431341 Patent urachus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:431341 Patent urachus oboInOwl:hasDbXref UMLS:C0266357 semapv:UnspecifiedMatching +Orphanet:431341 Patent urachus oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching +Orphanet:431344 Urachal sinus oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:431344 Urachal sinus oboInOwl:hasDbXref UMLS:C3472657 semapv:UnspecifiedMatching +Orphanet:431344 Urachal sinus oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching +Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref UMLS:C0431743 semapv:UnspecifiedMatching +Orphanet:431347 Urachal diverticulum oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching +Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis oboInOwl:hasDbXref UMLS:C3698354 semapv:UnspecifiedMatching +Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref MESH:C565624 semapv:UnspecifiedMatching +Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref OMIM:616034 semapv:UnspecifiedMatching +Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency oboInOwl:hasDbXref UMLS:C1857252 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:146110 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:308700 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:610628 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:612370 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:612702 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614837 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614838 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614839 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614841 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614842 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:614880 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615269 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:615270 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIM:619755 semapv:UnspecifiedMatching +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism oboInOwl:hasDbXref UMLS:C5680088 semapv:UnspecifiedMatching +Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref ICD10:G73.1 semapv:UnspecifiedMatching +Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MESH:D015624 semapv:UnspecifiedMatching +Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref MedDRA:10067685 semapv:UnspecifiedMatching +Orphanet:43393 Lambert-Eaton myasthenic syndrome oboInOwl:hasDbXref UMLS:C0022972 semapv:UnspecifiedMatching +Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref OMIM:615948 semapv:UnspecifiedMatching +Orphanet:434179 Orofaciodigital syndrome type 14 oboInOwl:hasDbXref UMLS:C4706604 semapv:UnspecifiedMatching +Orphanet:434786 Rare genetic autonomic nervous system disorder oboInOwl:hasDbXref UMLS:C5681212 semapv:UnspecifiedMatching +Orphanet:434809 Syndrome with woolly hair oboInOwl:hasDbXref UMLS:C0345427 semapv:UnspecifiedMatching +Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref MESH:C563017 semapv:UnspecifiedMatching +Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref MedDRA:10081225 semapv:UnspecifiedMatching +Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref OMIM:137575 semapv:UnspecifiedMatching +Orphanet:435329 Familial ossifying fibroma oboInOwl:hasDbXref UMLS:C3495361 semapv:UnspecifiedMatching +Orphanet:435365 Fetal lower urinary tract obstruction oboInOwl:hasDbXref UMLS:C4305545 semapv:UnspecifiedMatching +Orphanet:435372 Anterior urethral valve oboInOwl:hasDbXref ICD10:Q64.7 semapv:UnspecifiedMatching +Orphanet:435372 Anterior urethral valve oboInOwl:hasDbXref UMLS:C0431755 semapv:UnspecifiedMatching +Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref OMIM:616687 semapv:UnspecifiedMatching +Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref UMLS:C5569026 semapv:UnspecifiedMatching +Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref OMIM:616187 semapv:UnspecifiedMatching +Orphanet:435438 Progressive myoclonic epilepsy type 7 oboInOwl:hasDbXref UMLS:C4015420 semapv:UnspecifiedMatching +Orphanet:435554 Genetic precocious puberty oboInOwl:hasDbXref UMLS:C5681172 semapv:UnspecifiedMatching +Orphanet:435564 Genetic precocious puberty in female oboInOwl:hasDbXref UMLS:C5681171 semapv:UnspecifiedMatching +Orphanet:435603 Genetic otorhinolaryngological malformation oboInOwl:hasDbXref UMLS:C5681175 semapv:UnspecifiedMatching +Orphanet:435606 Genetic nose and cavum anomaly oboInOwl:hasDbXref UMLS:C5681174 semapv:UnspecifiedMatching +Orphanet:435609 Genetic larynx anomaly oboInOwl:hasDbXref UMLS:C5681173 semapv:UnspecifiedMatching +Orphanet:435612 Genetic tracheal anomaly oboInOwl:hasDbXref UMLS:C5681176 semapv:UnspecifiedMatching +Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref OMIM:614098 semapv:UnspecifiedMatching +Orphanet:435628 Keppen-Lubinsky syndrome oboInOwl:hasDbXref UMLS:C3279800 semapv:UnspecifiedMatching +Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:435638 3p25.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5437630 semapv:UnspecifiedMatching +Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615238 semapv:UnspecifiedMatching +Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C3808940 semapv:UnspecifiedMatching +Orphanet:435651 CIDEC-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:615980 semapv:UnspecifiedMatching +Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C4014869 semapv:UnspecifiedMatching +Orphanet:435660 LIPE-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:435743 Congenital urachal anomaly oboInOwl:hasDbXref UMLS:C1739100 semapv:UnspecifiedMatching +Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching +Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref UMLS:C5681177 semapv:UnspecifiedMatching +Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching +Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref UMLS:C5569028 semapv:UnspecifiedMatching +Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref OMIM:614498 semapv:UnspecifiedMatching +Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref OMIM:618056 semapv:UnspecifiedMatching +Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref UMLS:C3281029 semapv:UnspecifiedMatching +Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching +Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching +Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref OMIM:212550 semapv:UnspecifiedMatching +Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome oboInOwl:hasDbXref UMLS:C4225424 semapv:UnspecifiedMatching +Orphanet:435934 COG2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:435934 COG2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:435934 COG2-CDG oboInOwl:hasDbXref OMIM:617395 semapv:UnspecifiedMatching +Orphanet:435934 COG2-CDG oboInOwl:hasDbXref UMLS:C4479353 semapv:UnspecifiedMatching +Orphanet:435934 COG2-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:300998 semapv:UnspecifiedMatching +Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C5681178 semapv:UnspecifiedMatching +Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref OMIM:616200 semapv:UnspecifiedMatching +Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome oboInOwl:hasDbXref UMLS:C4015461 semapv:UnspecifiedMatching +Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref MedDRA:10086078 semapv:UnspecifiedMatching +Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref OMIM:616201 semapv:UnspecifiedMatching +Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome oboInOwl:hasDbXref UMLS:C4015474 semapv:UnspecifiedMatching +Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref OMIM:616039 semapv:UnspecifiedMatching +Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D oboInOwl:hasDbXref UMLS:C5569027 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref MESH:D007014 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref MedDRA:10049933 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref OMIM:241510 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref UMLS:C0020630 semapv:UnspecifiedMatching +Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:UnspecifiedMatching +Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C5680042 semapv:UnspecifiedMatching +Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching +Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref UMLS:C5681179 semapv:UnspecifiedMatching +Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching +Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref UMLS:C5681180 semapv:UnspecifiedMatching +Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616078 semapv:UnspecifiedMatching +Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616083 semapv:UnspecifiedMatching +Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5680043 semapv:UnspecifiedMatching +Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref OMIM:616100 semapv:UnspecifiedMatching +Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency oboInOwl:hasDbXref UMLS:C4015214 semapv:UnspecifiedMatching +Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616050 semapv:UnspecifiedMatching +Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.3 semapv:UnspecifiedMatching +Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.3 semapv:UnspecifiedMatching +Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref MESH:C566057 semapv:UnspecifiedMatching +Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref OMIM:614486 semapv:UnspecifiedMatching +Orphanet:436169 Thrombomodulin-related bleeding disorder oboInOwl:hasDbXref UMLS:C3280976 semapv:UnspecifiedMatching +Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:616007 semapv:UnspecifiedMatching +Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4014942 semapv:UnspecifiedMatching +Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref OMIM:616541 semapv:UnspecifiedMatching +Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref OMIM:617253 semapv:UnspecifiedMatching +Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome oboInOwl:hasDbXref UMLS:C5681181 semapv:UnspecifiedMatching +Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching +Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref OMIM:616117 semapv:UnspecifiedMatching +Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease oboInOwl:hasDbXref UMLS:C5681182 semapv:UnspecifiedMatching +Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616108 semapv:UnspecifiedMatching +Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4015242 semapv:UnspecifiedMatching +Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching +Orphanet:436252 Combined immunodeficiency-enteropathy spectrum oboInOwl:hasDbXref UMLS:C5680044 semapv:UnspecifiedMatching +Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref OMIM:619061 semapv:UnspecifiedMatching +Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy oboInOwl:hasDbXref UMLS:C5681183 semapv:UnspecifiedMatching +Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa oboInOwl:hasDbXref UMLS:C5680045 semapv:UnspecifiedMatching +Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref MESH:D063730 semapv:UnspecifiedMatching +Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref MedDRA:10060873 semapv:UnspecifiedMatching +Orphanet:437 Hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C1704375 semapv:UnspecifiedMatching +Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref OMIM:615707 semapv:UnspecifiedMatching +Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity oboInOwl:hasDbXref UMLS:C5680046 semapv:UnspecifiedMatching +Orphanet:438072 Disorder of keton body transport oboInOwl:hasDbXref UMLS:C5681184 semapv:UnspecifiedMatching +Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref OMIM:616095 semapv:UnspecifiedMatching +Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency oboInOwl:hasDbXref UMLS:C4015186 semapv:UnspecifiedMatching +Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616140 semapv:UnspecifiedMatching +Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C4015323 semapv:UnspecifiedMatching +Orphanet:438117 Steel syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:438117 Steel syndrome oboInOwl:hasDbXref OMIM:615155 semapv:UnspecifiedMatching +Orphanet:438117 Steel syndrome oboInOwl:hasDbXref UMLS:C3554594 semapv:UnspecifiedMatching +Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref OMIM:615919 semapv:UnspecifiedMatching +Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome oboInOwl:hasDbXref UMLS:C4014676 semapv:UnspecifiedMatching +Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref OMIM:615952 semapv:UnspecifiedMatching +Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease oboInOwl:hasDbXref UMLS:C4014795 semapv:UnspecifiedMatching +Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref OMIM:616154 semapv:UnspecifiedMatching +Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency oboInOwl:hasDbXref UMLS:C4015344 semapv:UnspecifiedMatching +Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref OMIM:616176 semapv:UnspecifiedMatching +Orphanet:438207 Severe autosomal recessive macrothrombocytopenia oboInOwl:hasDbXref UMLS:C5569048 semapv:UnspecifiedMatching +Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref MedDRA:10085882 semapv:UnspecifiedMatching +Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching +Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome oboInOwl:hasDbXref UMLS:C4708498 semapv:UnspecifiedMatching +Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref MESH:C566113 semapv:UnspecifiedMatching +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus oboInOwl:hasDbXref UMLS:C1861457 semapv:UnspecifiedMatching +Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref ICD10:E16.3 semapv:UnspecifiedMatching +Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref ICD10:E16.3 semapv:UnspecifiedMatching +Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref OMIM:619290 semapv:UnspecifiedMatching +Orphanet:438274 GCGR-related hyperglucagonemia oboInOwl:hasDbXref UMLS:C4763635 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B03 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B04 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B08.0 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref ICD10:B08.0 semapv:UnspecifiedMatching +Orphanet:438279 Human infection by orthopoxvirus oboInOwl:hasDbXref UMLS:C5681185 semapv:UnspecifiedMatching +Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching +Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref MESH:C535682 semapv:UnspecifiedMatching +Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref OMIM:277200 semapv:UnspecifiedMatching +Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref UMLS:C1848587 semapv:UnspecifiedMatching +Orphanet:439 Isolated right ventricular hypoplasia oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref ICD10:P02.2 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref MESH:D010927 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref MedDRA:10035138 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref UMLS:C0032051 semapv:UnspecifiedMatching +Orphanet:439167 Placental insufficiency oboInOwl:hasDbXref icd11:JA8A.Y semapv:UnspecifiedMatching +Orphanet:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref ICD10:I63.5 semapv:UnspecifiedMatching +Orphanet:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref ICD10:I63.5 semapv:UnspecifiedMatching +Orphanet:439175 Pediatric arterial ischemic stroke oboInOwl:hasDbXref UMLS:C5680049 semapv:UnspecifiedMatching +Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref ICD10:L53.8 semapv:UnspecifiedMatching +Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref MedDRA:10084061 semapv:UnspecifiedMatching +Orphanet:439196 Zinc-responsive necrolytic acral erythema oboInOwl:hasDbXref UMLS:C4546437 semapv:UnspecifiedMatching +Orphanet:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref ICD10:P14.3 semapv:UnspecifiedMatching +Orphanet:439202 Non-recovering obstetric brachial plexus lesion oboInOwl:hasDbXref UMLS:C5680048 semapv:UnspecifiedMatching +Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref OMIM:614399 semapv:UnspecifiedMatching +Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref UMLS:C3280679 semapv:UnspecifiedMatching +Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref OMIM:613720 semapv:UnspecifiedMatching +Orphanet:439218 KCNQ2-related epileptic encephalopathy oboInOwl:hasDbXref UMLS:C4755256 semapv:UnspecifiedMatching +Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching +Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching +Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref UMLS:C5680047 semapv:UnspecifiedMatching +Orphanet:439224 ALECT2 amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching +Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching +Orphanet:439232 AApoAIV amyloidosis oboInOwl:hasDbXref UMLS:C5568805 semapv:UnspecifiedMatching +Orphanet:439246 ABeta2M amyloidosis oboInOwl:hasDbXref UMLS:C5680053 semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching +Orphanet:439254 ITM2B amyloidosis oboInOwl:hasDbXref UMLS:C5568806 semapv:UnspecifiedMatching +Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439729 Cutaneous polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0343190 semapv:UnspecifiedMatching +Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439737 Primary polyarteritis nodosa oboInOwl:hasDbXref UMLS:C5680052 semapv:UnspecifiedMatching +Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching +Orphanet:439746 Secondary polyarteritis nodosa oboInOwl:hasDbXref UMLS:C5680050 semapv:UnspecifiedMatching +Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439755 Single-organ polyarteritis nodosa oboInOwl:hasDbXref UMLS:C5680051 semapv:UnspecifiedMatching +Orphanet:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439762 Systemic polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref OMIM:615668 semapv:UnspecifiedMatching +Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref UMLS:C5681186 semapv:UnspecifiedMatching +Orphanet:439849 Autosomal recessive severe congenital neutropenia oboInOwl:hasDbXref UMLS:C5447331 semapv:UnspecifiedMatching +Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref MESH:C564888 semapv:UnspecifiedMatching +Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref OMIM:261740 semapv:UnspecifiedMatching +Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref UMLS:C1849813 semapv:UnspecifiedMatching +Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching +Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref ICD10:J98.0 semapv:UnspecifiedMatching +Orphanet:439881 Plastic bronchitis oboInOwl:hasDbXref UMLS:C0264342 semapv:UnspecifiedMatching +Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref OMIM:616258 semapv:UnspecifiedMatching +Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome oboInOwl:hasDbXref UMLS:C4015701 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching +Orphanet:44 Neonatal adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0282525 semapv:UnspecifiedMatching +Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:440221 Congenital oculomotor nerve palsy oboInOwl:hasDbXref UMLS:C5680054 semapv:UnspecifiedMatching +Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:440233 Congenital abducens nerve palsy oboInOwl:hasDbXref UMLS:C5680055 semapv:UnspecifiedMatching +Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref UMLS:C5680056 semapv:UnspecifiedMatching +Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 semapv:UnspecifiedMatching +Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 semapv:UnspecifiedMatching +Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref UMLS:C2732890 semapv:UnspecifiedMatching +Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref MESH:C567048 semapv:UnspecifiedMatching +Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching +Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref UMLS:C1970470 semapv:UnspecifiedMatching +Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref MESH:C567046 semapv:UnspecifiedMatching +Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching +Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency oboInOwl:hasDbXref UMLS:C1970456 semapv:UnspecifiedMatching +Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref OMIM:615486 semapv:UnspecifiedMatching +Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency oboInOwl:hasDbXref UMLS:C4225400 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.1 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.2 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.2 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.3 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.3 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.4 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.4 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.5 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.5 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.6 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref ICD10:C18.7 semapv:UnspecifiedMatching +Orphanet:440437 Familial colorectal cancer Type X oboInOwl:hasDbXref UMLS:C3896578 semapv:UnspecifiedMatching +Orphanet:440701 Disorders of pentose/polyol metabolism oboInOwl:hasDbXref UMLS:C5681188 semapv:UnspecifiedMatching +Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref MESH:C563212 semapv:UnspecifiedMatching +Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref OMIM:608611 semapv:UnspecifiedMatching +Orphanet:440706 Ribose-5-P isomerase deficiency oboInOwl:hasDbXref UMLS:C1291609 semapv:UnspecifiedMatching +Orphanet:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref OMIM:617213 semapv:UnspecifiedMatching +Orphanet:440713 Isolated sedoheptulokinase deficiency oboInOwl:hasDbXref UMLS:C1291373 semapv:UnspecifiedMatching +Orphanet:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching +Orphanet:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching +Orphanet:440724 Extensive peripapillary myelinated nerve fibers oboInOwl:hasDbXref UMLS:C5681187 semapv:UnspecifiedMatching +Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium oboInOwl:hasDbXref ICD10:D31.2 semapv:UnspecifiedMatching +Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium oboInOwl:hasDbXref UMLS:C1862062 semapv:UnspecifiedMatching +Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref OMIM:615604 semapv:UnspecifiedMatching +Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref UMLS:C3810090 semapv:UnspecifiedMatching +Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref ICD10:Q44.0 semapv:UnspecifiedMatching +Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref MESH:C562564 semapv:UnspecifiedMatching +Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref UMLS:C0266251 semapv:UnspecifiedMatching +Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref icd11:LB20.10 semapv:UnspecifiedMatching +Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref MESH:D054970 semapv:UnspecifiedMatching +Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref UMLS:C0393911 semapv:UnspecifiedMatching +Orphanet:441434 Syndromic hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C5681189 semapv:UnspecifiedMatching +Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching +Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref ICD10:H26.0 semapv:UnspecifiedMatching +Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching +Orphanet:441447 Early-onset posterior subcapsular cataract oboInOwl:hasDbXref UMLS:C5681190 semapv:UnspecifiedMatching +Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref ICD10:H26.8 semapv:UnspecifiedMatching +Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching +Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching +Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching +Orphanet:441452 Early-onset lamellar cataract oboInOwl:hasDbXref UMLS:C5681191 semapv:UnspecifiedMatching +Orphanet:442 Congenital hypothyroidism oboInOwl:hasDbXref MESH:D003409 semapv:UnspecifiedMatching +Orphanet:442 Congenital hypothyroidism oboInOwl:hasDbXref MedDRA:10010510 semapv:UnspecifiedMatching +Orphanet:442 Congenital hypothyroidism oboInOwl:hasDbXref UMLS:C0010308 semapv:UnspecifiedMatching +Orphanet:442 Congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.0 semapv:UnspecifiedMatching +Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching +Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching +Orphanet:442582 AH amyloidosis oboInOwl:hasDbXref UMLS:C5204115 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:301058 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:614558 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615476 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615833 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615871 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:615905 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616056 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616211 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616339 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616346 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616366 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:616409 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617020 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617105 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617106 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617132 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617153 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617162 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617166 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617665 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617829 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617830 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617831 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617836 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617854 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:617938 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618008 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618012 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618067 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618201 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618396 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618437 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618468 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618557 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618559 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618910 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618916 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618959 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619124 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619317 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619561 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619605 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619606 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619777 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619814 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619881 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619913 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619922 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:619970 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620033 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620115 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620145 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:620149 semapv:UnspecifiedMatching +Orphanet:442835 Non-specific early-onset epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5680057 semapv:UnspecifiedMatching +Orphanet:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref MESH:C566768 semapv:UnspecifiedMatching +Orphanet:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching +Orphanet:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C1867968 semapv:UnspecifiedMatching +Orphanet:443057 Sporadic porphyria cutanea tarda oboInOwl:hasDbXref icd11:5C58.10 semapv:UnspecifiedMatching +Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching +Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0268323 semapv:UnspecifiedMatching +Orphanet:443062 Familial porphyria cutanea tarda oboInOwl:hasDbXref icd11:5C58.10 semapv:UnspecifiedMatching +Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching +Orphanet:443070 Hemicrania continua oboInOwl:hasDbXref UMLS:C2349425 semapv:UnspecifiedMatching +Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref OMIM:616155 semapv:UnspecifiedMatching +Orphanet:443073 Charcot-Marie-Tooth disease type 2S oboInOwl:hasDbXref UMLS:C4015349 semapv:UnspecifiedMatching +Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref ICD10:H35.7 semapv:UnspecifiedMatching +Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref MESH:D056833 semapv:UnspecifiedMatching +Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref MedDRA:10086644 semapv:UnspecifiedMatching +Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref UMLS:C0730328 semapv:UnspecifiedMatching +Orphanet:443079 Central serous chorioretinopathy oboInOwl:hasDbXref icd11:9B75.2 semapv:UnspecifiedMatching +Orphanet:443084 Baroreflex failure oboInOwl:hasDbXref ICD10:G90.4 semapv:UnspecifiedMatching +Orphanet:443084 Baroreflex failure oboInOwl:hasDbXref UMLS:C1959798 semapv:UnspecifiedMatching +Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref OMIM:614279 semapv:UnspecifiedMatching +Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref UMLS:C5681195 semapv:UnspecifiedMatching +Orphanet:443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect oboInOwl:hasDbXref UMLS:C5681194 semapv:UnspecifiedMatching +Orphanet:443095 Hyperinsulinemic hypoglycaemia oboInOwl:hasDbXref MedDRA:10077216 semapv:UnspecifiedMatching +Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref MESH:C564168 semapv:UnspecifiedMatching +Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref OMIM:144755 semapv:UnspecifiedMatching +Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref UMLS:C1840404 semapv:UnspecifiedMatching +Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome oboInOwl:hasDbXref ICD10:E23.3 semapv:UnspecifiedMatching +Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome oboInOwl:hasDbXref ICD10:E23.3 semapv:UnspecifiedMatching +Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome oboInOwl:hasDbXref UMLS:C5681196 semapv:UnspecifiedMatching +Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production oboInOwl:hasDbXref UMLS:C5680061 semapv:UnspecifiedMatching +Orphanet:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:443162 NDE1-related microhydranencephaly oboInOwl:hasDbXref OMIM:605013 semapv:UnspecifiedMatching +Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref ICD10:C80.9 semapv:UnspecifiedMatching +Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref MedDRA:10078295 semapv:UnspecifiedMatching +Orphanet:443167 NUT midline carcinoma oboInOwl:hasDbXref UMLS:C1707291 semapv:UnspecifiedMatching +Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref ICD10:F53.1 semapv:UnspecifiedMatching +Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref UMLS:C0520678 semapv:UnspecifiedMatching +Orphanet:443173 Postpartum psychosis oboInOwl:hasDbXref icd11:6E21 semapv:UnspecifiedMatching +Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref ICD10:G96.0 semapv:UnspecifiedMatching +Orphanet:443180 Spontaneous intracranial hypotension oboInOwl:hasDbXref UMLS:C0751731 semapv:UnspecifiedMatching +Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching +Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref UMLS:C5680058 semapv:UnspecifiedMatching +Orphanet:443192 Classic stiff person syndrome oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching +Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching +Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref MESH:C567464 semapv:UnspecifiedMatching +Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching +Orphanet:443197 X-linked erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C2677889 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.1 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.2 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.3 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref MESH:D010284 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref UMLS:C0030528 semapv:UnspecifiedMatching +Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref ICD10:I95.1 semapv:UnspecifiedMatching +Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref OMIM:604715 semapv:UnspecifiedMatching +Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref UMLS:C5680060 semapv:UnspecifiedMatching +Orphanet:443291 HIV-associated cancer oboInOwl:hasDbXref ICD10:B21.8 semapv:UnspecifiedMatching +Orphanet:443291 HIV-associated cancer oboInOwl:hasDbXref ICD10:B21.8 semapv:UnspecifiedMatching +Orphanet:443291 HIV-associated cancer oboInOwl:hasDbXref UMLS:C5680059 semapv:UnspecifiedMatching +Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref MedDRA:10079359 semapv:UnspecifiedMatching +Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching +Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching +Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref UMLS:C4014371 semapv:UnspecifiedMatching +Orphanet:443909 Hereditary nonpolyposis colon cancer oboInOwl:hasDbXref UMLS:C1333990 semapv:UnspecifiedMatching +Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching +Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C5569053 semapv:UnspecifiedMatching +Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref MESH:C565657 semapv:UnspecifiedMatching +Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref OMIM:219730 semapv:UnspecifiedMatching +Orphanet:443988 Ventriculomegaly-cystic kidney disease oboInOwl:hasDbXref UMLS:C1857423 semapv:UnspecifiedMatching +Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref OMIM:616367 semapv:UnspecifiedMatching +Orphanet:443995 Mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref UMLS:C4225349 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref ICD10:Q84.0 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref MESH:C535912 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref OMIM:146550 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref OMIM:612841 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref UMLS:C2931059 semapv:UnspecifiedMatching +Orphanet:444 Marie Unna hereditary hypotrichosis oboInOwl:hasDbXref icd11:EC21.2 semapv:UnspecifiedMatching +Orphanet:444002 11q22.2q22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:444002 11q22.2q22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:444002 11q22.2q22.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5680062 semapv:UnspecifiedMatching +Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref OMIM:616198 semapv:UnspecifiedMatching +Orphanet:444013 Combined oxidative phosphorylation defect type 23 oboInOwl:hasDbXref UMLS:C5567743 semapv:UnspecifiedMatching +Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching +Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref OMIM:616185 semapv:UnspecifiedMatching +Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome oboInOwl:hasDbXref UMLS:C4015409 semapv:UnspecifiedMatching +Orphanet:444051 20q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:444051 20q11.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:444051 20q11.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5680063 semapv:UnspecifiedMatching +Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome oboInOwl:hasDbXref OMIM:243605 semapv:UnspecifiedMatching +Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome oboInOwl:hasDbXref UMLS:C5681197 semapv:UnspecifiedMatching +Orphanet:444072 Cerebellar-facial-dental syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:444072 Cerebellar-facial-dental syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:444072 Cerebellar-facial-dental syndrome oboInOwl:hasDbXref OMIM:616202 semapv:UnspecifiedMatching +Orphanet:444072 Cerebellar-facial-dental syndrome oboInOwl:hasDbXref UMLS:C4015495 semapv:UnspecifiedMatching +Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:616368 semapv:UnspecifiedMatching +Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4085597 semapv:UnspecifiedMatching +Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref MedDRA:10083948 semapv:UnspecifiedMatching +Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref OMIM:616414 semapv:UnspecifiedMatching +Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome oboInOwl:hasDbXref UMLS:C5243948 semapv:UnspecifiedMatching +Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching +Orphanet:444099 Autosomal dominant spastic paraplegia type 73 oboInOwl:hasDbXref UMLS:C5568981 semapv:UnspecifiedMatching +Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref MESH:D028226 semapv:UnspecifiedMatching +Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref MedDRA:10016202 semapv:UnspecifiedMatching +Orphanet:444116 Hereditary amyloidosis oboInOwl:hasDbXref UMLS:C0740340 semapv:UnspecifiedMatching +Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref OMIM:616295 semapv:UnspecifiedMatching +Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome oboInOwl:hasDbXref UMLS:C4225381 semapv:UnspecifiedMatching +Orphanet:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:444316 Idiopathic phalangeal acro-osteolysis oboInOwl:hasDbXref UMLS:C5680064 semapv:UnspecifiedMatching +Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref OMIM:616239 semapv:UnspecifiedMatching +Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref UMLS:C4015643 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619220 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C5543159 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:118830 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching +Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref UMLS:C5442313 semapv:UnspecifiedMatching +Orphanet:444916 Pseudohypoaldosteronism oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching +Orphanet:444916 Pseudohypoaldosteronism oboInOwl:hasDbXref MedDRA:10080593 semapv:UnspecifiedMatching +Orphanet:444916 Pseudohypoaldosteronism oboInOwl:hasDbXref UMLS:C0033805 semapv:UnspecifiedMatching +Orphanet:444941 Caudal regression-sirenomelia spectrum oboInOwl:hasDbXref UMLS:C5681198 semapv:UnspecifiedMatching +Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref OMIM:614700 semapv:UnspecifiedMatching +Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref UMLS:C3553512 semapv:UnspecifiedMatching +Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:619835 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref UMLS:C4225393 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref OMIM:616192 semapv:UnspecifiedMatching +Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref UMLS:C4015436 semapv:UnspecifiedMatching +Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref OMIM:616094 semapv:UnspecifiedMatching +Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency oboInOwl:hasDbXref UMLS:C4015184 semapv:UnspecifiedMatching +Orphanet:445197 Secondary vasculitis oboInOwl:hasDbXref UMLS:C5681200 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref MESH:C536394 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref MedDRA:10078355 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref UMLS:C0268059 semapv:UnspecifiedMatching +Orphanet:446 Neonatal hemochromatosis oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10:D59.5 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10:D59.5 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MESH:D006457 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MedDRA:10034042 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0024790 semapv:UnspecifiedMatching +Orphanet:447 Paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref icd11:3A21.0 semapv:UnspecifiedMatching +Orphanet:447731 NIK deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:447731 NIK deficiency oboInOwl:hasDbXref OMIM:620449 semapv:UnspecifiedMatching +Orphanet:447731 NIK deficiency oboInOwl:hasDbXref UMLS:C5680065 semapv:UnspecifiedMatching +Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref OMIM:616433 semapv:UnspecifiedMatching +Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency oboInOwl:hasDbXref UMLS:C4225328 semapv:UnspecifiedMatching +Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:447740 Susceptibility to localized juvenile periodontitis oboInOwl:hasDbXref UMLS:C5681199 semapv:UnspecifiedMatching +Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref OMIM:601162 semapv:UnspecifiedMatching +Orphanet:447753 Autosomal dominant spastic paraplegia type 9A oboInOwl:hasDbXref UMLS:C5568978 semapv:UnspecifiedMatching +Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:447757 Autosomal dominant spastic paraplegia type 9B oboInOwl:hasDbXref UMLS:C5568979 semapv:UnspecifiedMatching +Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref OMIM:616586 semapv:UnspecifiedMatching +Orphanet:447760 Autosomal recessive spastic paraplegia type 9B oboInOwl:hasDbXref UMLS:C5568980 semapv:UnspecifiedMatching +Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref UMLS:C4302109 semapv:UnspecifiedMatching +Orphanet:447764 IgG4-related sclerosing cholangitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:447771 Sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching +Orphanet:447771 Sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10008609 semapv:UnspecifiedMatching +Orphanet:447771 Sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0008313 semapv:UnspecifiedMatching +Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0400978 semapv:UnspecifiedMatching +Orphanet:447774 Secondary sclerosing cholangitis oboInOwl:hasDbXref icd11:DC13 semapv:UnspecifiedMatching +Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref UMLS:C1708604 semapv:UnspecifiedMatching +Orphanet:447777 Keratocystic odontogenic tumor oboInOwl:hasDbXref icd11:2E83.1 semapv:UnspecifiedMatching +Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 semapv:UnspecifiedMatching +Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref UMLS:C3553607 semapv:UnspecifiedMatching +Orphanet:447784 Mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref icd11:5C53.0Y semapv:UnspecifiedMatching +Orphanet:447788 Cerebral visual impairment oboInOwl:hasDbXref ICD10:H47.6 semapv:UnspecifiedMatching +Orphanet:447788 Cerebral visual impairment oboInOwl:hasDbXref UMLS:C3810365 semapv:UnspecifiedMatching +Orphanet:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref OMIM:617668 semapv:UnspecifiedMatching +Orphanet:447795 Lipoyl transferase 2 deficiency oboInOwl:hasDbXref UMLS:C5681203 semapv:UnspecifiedMatching +Orphanet:447874 Biological anomaly without phenotypic characterization oboInOwl:hasDbXref UMLS:C5681202 semapv:UnspecifiedMatching +Orphanet:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref OMIM:612591 semapv:UnspecifiedMatching +Orphanet:447877 Polymerase proofreading-related adenomatous polyposis oboInOwl:hasDbXref OMIM:615083 semapv:UnspecifiedMatching +Orphanet:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:447881 Idiopathic dropped head syndrome oboInOwl:hasDbXref UMLS:C5680066 semapv:UnspecifiedMatching +Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching +Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome oboInOwl:hasDbXref UMLS:C5681201 semapv:UnspecifiedMatching +Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching +Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome oboInOwl:hasDbXref UMLS:C5680067 semapv:UnspecifiedMatching +Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref OMIM:616430 semapv:UnspecifiedMatching +Orphanet:447954 Combined oxidative phosphorylation defect type 25 oboInOwl:hasDbXref UMLS:C5567742 semapv:UnspecifiedMatching +Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref ICD10:D04.8 semapv:UnspecifiedMatching +Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref ICD10:D04.8 semapv:UnspecifiedMatching +Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref OMIM:618373 semapv:UnspecifiedMatching +Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome oboInOwl:hasDbXref UMLS:C5681108 semapv:UnspecifiedMatching +Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref OMIM:616491 semapv:UnspecifiedMatching +Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V oboInOwl:hasDbXref UMLS:C5569050 semapv:UnspecifiedMatching +Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q76.1 semapv:UnspecifiedMatching +Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616549 semapv:UnspecifiedMatching +Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4225285 semapv:UnspecifiedMatching +Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref OMIM:616852 semapv:UnspecifiedMatching +Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDbXref UMLS:C4225181 semapv:UnspecifiedMatching +Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C5679996 semapv:UnspecifiedMatching +Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref OMIM:616657 semapv:UnspecifiedMatching +Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref UMLS:C4225254 semapv:UnspecifiedMatching +Orphanet:448 Hemophilia oboInOwl:hasDbXref MedDRA:10061992 semapv:UnspecifiedMatching +Orphanet:448 Hemophilia oboInOwl:hasDbXref UMLS:C0684275 semapv:UnspecifiedMatching +Orphanet:448010 CAD-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:448010 CAD-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:448010 CAD-CDG oboInOwl:hasDbXref OMIM:616457 semapv:UnspecifiedMatching +Orphanet:448010 CAD-CDG oboInOwl:hasDbXref UMLS:C4225320 semapv:UnspecifiedMatching +Orphanet:448010 CAD-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:UnspecifiedMatching +Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:UnspecifiedMatching +Orphanet:448237 Zika virus disease oboInOwl:hasDbXref MESH:D000071243 semapv:UnspecifiedMatching +Orphanet:448237 Zika virus disease oboInOwl:hasDbXref UMLS:C0276289 semapv:UnspecifiedMatching +Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching +Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching +Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref UMLS:C4760908 semapv:UnspecifiedMatching +Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref OMIM:616291 semapv:UnspecifiedMatching +Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome oboInOwl:hasDbXref UMLS:C4225383 semapv:UnspecifiedMatching +Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:613000 semapv:UnspecifiedMatching +Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:616400 semapv:UnspecifiedMatching +Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5681107 semapv:UnspecifiedMatching +Orphanet:448267 Regressive spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:448267 Regressive spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:448267 Regressive spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:618019 semapv:UnspecifiedMatching +Orphanet:448267 Regressive spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C4747922 semapv:UnspecifiedMatching +Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref MESH:D054083 semapv:UnspecifiedMatching +Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref MedDRA:10014144 semapv:UnspecifiedMatching +Orphanet:448270 Ectopia cordis oboInOwl:hasDbXref UMLS:C0013580 semapv:UnspecifiedMatching +Orphanet:448426 Genetic primary orthostatic hypotension oboInOwl:hasDbXref UMLS:C5681106 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10:C26.9 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10:C26.9 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref MedDRA:10051066 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:175510 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:606764 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C0238198 semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref icd11:2B5B semapv:UnspecifiedMatching +Orphanet:44890 Gastrointestinal stromal tumor oboInOwl:hasDbXref icd11:XH9HQ1 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref ICD10:C22.2 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref MESH:D018197 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref MedDRA:10062001 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref UMLS:C0206624 semapv:UnspecifiedMatching +Orphanet:449 Hepatoblastoma oboInOwl:hasDbXref icd11:2C12.01 semapv:UnspecifiedMatching +Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:449266 Pleural empyema oboInOwl:hasDbXref ICD10:J86.9 semapv:UnspecifiedMatching +Orphanet:449266 Pleural empyema oboInOwl:hasDbXref MESH:D016724 semapv:UnspecifiedMatching +Orphanet:449266 Pleural empyema oboInOwl:hasDbXref UMLS:C0014013 semapv:UnspecifiedMatching +Orphanet:449266 Pleural empyema oboInOwl:hasDbXref icd11:CA44 semapv:UnspecifiedMatching +Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref MESH:C000656924 semapv:UnspecifiedMatching +Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref MedDRA:10059045 semapv:UnspecifiedMatching +Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref UMLS:C1142170 semapv:UnspecifiedMatching +Orphanet:449280 Scedosporiosis oboInOwl:hasDbXref icd11:1F2H semapv:UnspecifiedMatching +Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref ICD10:T63.0 semapv:UnspecifiedMatching +Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref MESH:D012909 semapv:UnspecifiedMatching +Orphanet:449285 Snakebite envenomation oboInOwl:hasDbXref UMLS:C0037379 semapv:UnspecifiedMatching +Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching +Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching +Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers oboInOwl:hasDbXref UMLS:C5681104 semapv:UnspecifiedMatching +Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching +Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref UMLS:C5392056 semapv:UnspecifiedMatching +Orphanet:449395 IgG4-related kidney disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching +Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching +Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref UMLS:C5681105 semapv:UnspecifiedMatching +Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching +Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching +Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching +Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref UMLS:C5679995 semapv:UnspecifiedMatching +Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:449563 IgG4-related ophthalmic disease oboInOwl:hasDbXref ICD10:H05.1 semapv:UnspecifiedMatching +Orphanet:449563 IgG4-related ophthalmic disease oboInOwl:hasDbXref ICD10:H05.1 semapv:UnspecifiedMatching +Orphanet:449563 IgG4-related ophthalmic disease oboInOwl:hasDbXref UMLS:C5681103 semapv:UnspecifiedMatching +Orphanet:449563 IgG4-related ophthalmic disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref ICD10:J39.8 semapv:UnspecifiedMatching +Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref ICD10:J39.8 semapv:UnspecifiedMatching +Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref MedDRA:10087310 semapv:UnspecifiedMatching +Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref UMLS:C5578050 semapv:UnspecifiedMatching +Orphanet:449566 Eosinophilic angiocentric fibrosis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref MESH:C538234 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:612874 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref OMIM:615511 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref UMLS:C2931781 semapv:UnspecifiedMatching +Orphanet:45 Adenosine monophosphate deaminase deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref MESH:D059446 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref MedDRA:10067265 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:306955 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:601086 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:605376 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:606325 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:613751 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:614779 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:616749 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:617205 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:618948 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref OMIM:619702 semapv:UnspecifiedMatching +Orphanet:450 Heterotaxia oboInOwl:hasDbXref UMLS:C3178805 semapv:UnspecifiedMatching +Orphanet:450322 Polyclonal hyperviscosity syndrome oboInOwl:hasDbXref ICD10:D89.0 semapv:UnspecifiedMatching +Orphanet:450322 Polyclonal hyperviscosity syndrome oboInOwl:hasDbXref UMLS:C5681102 semapv:UnspecifiedMatching +Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching +Orphanet:451602 Primary cutaneous plasmacytosis oboInOwl:hasDbXref UMLS:C4736227 semapv:UnspecifiedMatching +Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching +Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref UMLS:C0311220 semapv:UnspecifiedMatching +Orphanet:451607 Cutaneous pseudolymphoma oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref ICD10:Q10.5 semapv:UnspecifiedMatching +Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref OMIM:149700 semapv:UnspecifiedMatching +Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref UMLS:C5681101 semapv:UnspecifiedMatching +Orphanet:451612 Familial congenital nasolacrimal duct obstruction oboInOwl:hasDbXref icd11:LA14.14 semapv:UnspecifiedMatching +Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref MESH:C564563 semapv:UnspecifiedMatching +Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref OMIM:300215 semapv:UnspecifiedMatching +Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref UMLS:C1846171 semapv:UnspecifiedMatching +Orphanet:453 IBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching +Orphanet:453 IBIDS syndrome oboInOwl:hasDbXref UMLS:C1866505 semapv:UnspecifiedMatching +Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:616580 semapv:UnspecifiedMatching +Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C4225274 semapv:UnspecifiedMatching +Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation oboInOwl:hasDbXref OMIM:616580 semapv:UnspecifiedMatching +Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability oboInOwl:hasDbXref UMLS:C5679994 semapv:UnspecifiedMatching +Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref OMIM:616127 semapv:UnspecifiedMatching +Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency oboInOwl:hasDbXref UMLS:C4015301 semapv:UnspecifiedMatching +Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref OMIM:616113 semapv:UnspecifiedMatching +Orphanet:453533 Polyendocrine-polyneuropathy syndrome oboInOwl:hasDbXref UMLS:C4015261 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref MESH:C580012 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:135700 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:600638 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:602078 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609384 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609428 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:609612 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching +Orphanet:45358 Congenital fibrosis of extraocular muscles oboInOwl:hasDbXref UMLS:C1302995 semapv:UnspecifiedMatching +Orphanet:45360 NON RARE IN EUROPE: Menière disease oboInOwl:hasDbXref ICD10:H81.0 semapv:UnspecifiedMatching +Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching +Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching +Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref MESH:C538175 semapv:UnspecifiedMatching +Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref UMLS:C0263386 semapv:UnspecifiedMatching +Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref icd11:ED50.0 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref MESH:C537480 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:254130 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref OMIM:613318 semapv:UnspecifiedMatching +Orphanet:45448 Miyoshi myopathy oboInOwl:hasDbXref UMLS:C5553104 semapv:UnspecifiedMatching +Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref ICD10:P29.1 semapv:UnspecifiedMatching +Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref ICD10:P29.1 semapv:UnspecifiedMatching +Orphanet:45452 Idiopathic neonatal atrial flutter oboInOwl:hasDbXref UMLS:C4275090 semapv:UnspecifiedMatching +Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching +Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref ICD10:I47.2 semapv:UnspecifiedMatching +Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref UMLS:C0340487 semapv:UnspecifiedMatching +Orphanet:45453 Incessant infant ventricular tachycardia oboInOwl:hasDbXref icd11:BC71.0Y semapv:UnspecifiedMatching +Orphanet:454700 Acquired Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching +Orphanet:454700 Acquired Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C5681100 semapv:UnspecifiedMatching +Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref UMLS:C0917981 semapv:UnspecifiedMatching +Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching +Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref UMLS:C5681099 semapv:UnspecifiedMatching +Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref ICD10:C90.1 semapv:UnspecifiedMatching +Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref ICD10:C90.1 semapv:UnspecifiedMatching +Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref MESH:D007952 semapv:UnspecifiedMatching +Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref MedDRA:10035222 semapv:UnspecifiedMatching +Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref UMLS:C0023484 semapv:UnspecifiedMatching +Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref icd11:2A83.4 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref ICD10:H57.0 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref ICD10:H57.0 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref MESH:D000270 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref icd11:9B01.1 semapv:UnspecifiedMatching +Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:454723 Endometrioid carcinoma of ovary oboInOwl:hasDbXref UMLS:C0346163 semapv:UnspecifiedMatching +Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref UMLS:C4303527 semapv:UnspecifiedMatching +Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref icd11:8E03 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref MESH:D007729 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref OMIM:245300 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref UMLS:C0022802 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref icd11:8E01.1 semapv:UnspecifiedMatching +Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref ICD10:Q39.2 semapv:UnspecifiedMatching +Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref ICD10:Q39.2 semapv:UnspecifiedMatching +Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref MESH:D014138 semapv:UnspecifiedMatching +Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref MedDRA:10044310 semapv:UnspecifiedMatching +Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref UMLS:C0040588 semapv:UnspecifiedMatching +Orphanet:454750 Isolated tracheoesophageal fistula oboInOwl:hasDbXref icd11:LB12.2 semapv:UnspecifiedMatching +Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching +Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref MESH:C563250 semapv:UnspecifiedMatching +Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching +Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref ICD10:T66 semapv:UnspecifiedMatching +Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref MESH:D054508 semapv:UnspecifiedMatching +Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref UMLS:C0520799 semapv:UnspecifiedMatching +Orphanet:454836 Avian influenza oboInOwl:hasDbXref ICD10:J09 semapv:UnspecifiedMatching +Orphanet:454836 Avian influenza oboInOwl:hasDbXref MESH:D005585 semapv:UnspecifiedMatching +Orphanet:454836 Avian influenza oboInOwl:hasDbXref MedDRA:10064097 semapv:UnspecifiedMatching +Orphanet:454836 Avian influenza oboInOwl:hasDbXref UMLS:C0016627 semapv:UnspecifiedMatching +Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching +Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching +Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref MESH:D000088282 semapv:UnspecifiedMatching +Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref UMLS:C0393570 semapv:UnspecifiedMatching +Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref MESH:D053560 semapv:UnspecifiedMatching +Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref OMIM:146800 semapv:UnspecifiedMatching +Orphanet:455 Superficial epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C0432306 semapv:UnspecifiedMatching +Orphanet:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:456298 1p35.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5679992 semapv:UnspecifiedMatching +Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref OMIM:616263 semapv:UnspecifiedMatching +Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease oboInOwl:hasDbXref UMLS:C4015728 semapv:UnspecifiedMatching +Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref MESH:C580162 semapv:UnspecifiedMatching +Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref OMIM:614116 semapv:UnspecifiedMatching +Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome oboInOwl:hasDbXref UMLS:C3279885 semapv:UnspecifiedMatching +Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref MESH:C564561 semapv:UnspecifiedMatching +Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300219 semapv:UnspecifiedMatching +Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome oboInOwl:hasDbXref UMLS:C1846169 semapv:UnspecifiedMatching +Orphanet:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref ICD10:C17.9 semapv:UnspecifiedMatching +Orphanet:456333 Hereditary neuroendocrine tumor of small intestine oboInOwl:hasDbXref UMLS:C5679993 semapv:UnspecifiedMatching +Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref OMIM:616199 semapv:UnspecifiedMatching +Orphanet:456369 Polyglucosan body myopathy type 2 oboInOwl:hasDbXref UMLS:C4015452 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref ICD10:Q80.4 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref ICD10:Q80.4 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref MESH:C538424 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref MedDRA:10019163 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref OMIM:242500 semapv:UnspecifiedMatching +Orphanet:457 Harlequin ichthyosis oboInOwl:hasDbXref UMLS:C0239849 semapv:UnspecifiedMatching +Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref OMIM:616209 semapv:UnspecifiedMatching +Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance oboInOwl:hasDbXref UMLS:C4015513 semapv:UnspecifiedMatching +Orphanet:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C5681125 semapv:UnspecifiedMatching +Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C5681126 semapv:UnspecifiedMatching +Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:457077 TAFRO syndrome oboInOwl:hasDbXref UMLS:C4552543 semapv:UnspecifiedMatching +Orphanet:457083 Isolated splenogonadal fusion oboInOwl:hasDbXref ICD10:Q89.0 semapv:UnspecifiedMatching +Orphanet:457083 Isolated splenogonadal fusion oboInOwl:hasDbXref UMLS:C5680001 semapv:UnspecifiedMatching +Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref MedDRA:10083959 semapv:UnspecifiedMatching +Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref OMIM:212050 semapv:UnspecifiedMatching +Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency oboInOwl:hasDbXref UMLS:C1859353 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.0 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.0 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.1 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.1 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.2 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.7 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref ICD10:A42.8 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref MESH:D000196 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref MedDRA:10000620 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref UMLS:C0001261 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10 semapv:UnspecifiedMatching +Orphanet:457095 Actinomycosis oboInOwl:hasDbXref icd11:1C10.Y semapv:UnspecifiedMatching +Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref OMIM:616276 semapv:UnspecifiedMatching +Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome oboInOwl:hasDbXref UMLS:C5568562 semapv:UnspecifiedMatching +Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome oboInOwl:hasDbXref OMIM:616268 semapv:UnspecifiedMatching +Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome oboInOwl:hasDbXref UMLS:C4225396 semapv:UnspecifiedMatching +Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome oboInOwl:hasDbXref UMLS:C5680002 semapv:UnspecifiedMatching +Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref ICD10:F78.1 semapv:UnspecifiedMatching +Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref ICD10:F78.1 semapv:UnspecifiedMatching +Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref OMIM:616269 semapv:UnspecifiedMatching +Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome oboInOwl:hasDbXref UMLS:C4225395 semapv:UnspecifiedMatching +Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:617872 semapv:UnspecifiedMatching +Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect oboInOwl:hasDbXref UMLS:C4693450 semapv:UnspecifiedMatching +Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref OMIM:300957 semapv:UnspecifiedMatching +Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref UMLS:C5681122 semapv:UnspecifiedMatching +Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref MedDRA:10009253 semapv:UnspecifiedMatching +Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref UMLS:C0334488 semapv:UnspecifiedMatching +Orphanet:457252 Squamous cell carcinoma of the oral tongue oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching +Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching +Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching +Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref OMIM:300958 semapv:UnspecifiedMatching +Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref UMLS:C5681121 semapv:UnspecifiedMatching +Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref OMIM:616540 semapv:UnspecifiedMatching +Orphanet:457265 Progressive myoclonic epilepsy type 9 oboInOwl:hasDbXref UMLS:C4225289 semapv:UnspecifiedMatching +Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref OMIM:616355 semapv:UnspecifiedMatching +Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome oboInOwl:hasDbXref UMLS:C4225354 semapv:UnspecifiedMatching +Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:616362 semapv:UnspecifiedMatching +Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4225352 semapv:UnspecifiedMatching +Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref OMIM:616577 semapv:UnspecifiedMatching +Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome oboInOwl:hasDbXref UMLS:C4225276 semapv:UnspecifiedMatching +Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref OMIM:617011 semapv:UnspecifiedMatching +Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome oboInOwl:hasDbXref UMLS:C5681123 semapv:UnspecifiedMatching +Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5681124 semapv:UnspecifiedMatching +Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref OMIM:616647 semapv:UnspecifiedMatching +Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement oboInOwl:hasDbXref UMLS:C4225256 semapv:UnspecifiedMatching +Orphanet:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref OMIM:616897 semapv:UnspecifiedMatching +Orphanet:457378 Complex lethal osteochondrodysplasia oboInOwl:hasDbXref UMLS:C4225162 semapv:UnspecifiedMatching +Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616723 semapv:UnspecifiedMatching +Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5568882 semapv:UnspecifiedMatching +Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref OMIM:616370 semapv:UnspecifiedMatching +Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 oboInOwl:hasDbXref UMLS:C4225348 semapv:UnspecifiedMatching +Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome oboInOwl:hasDbXref OMIM:616638 semapv:UnspecifiedMatching +Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome oboInOwl:hasDbXref UMLS:C4225259 semapv:UnspecifiedMatching +Orphanet:458713 NON RARE IN EUROPE: Specific language impairment oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching +Orphanet:458713 NON RARE IN EUROPE: Specific language impairment oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching +Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref ICD10:I25.4 semapv:UnspecifiedMatching +Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref ICD10:I25.4 semapv:UnspecifiedMatching +Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref OMIM:122455 semapv:UnspecifiedMatching +Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref UMLS:C5679999 semapv:UnspecifiedMatching +Orphanet:458758 Composite hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458758 Composite hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458758 Composite hemangioendothelioma oboInOwl:hasDbXref UMLS:C1304513 semapv:UnspecifiedMatching +Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1304512 semapv:UnspecifiedMatching +Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref UMLS:C0346087 semapv:UnspecifiedMatching +Orphanet:458775 Congenital hemangioma oboInOwl:hasDbXref UMLS:C0235753 semapv:UnspecifiedMatching +Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref UMLS:C4733501 semapv:UnspecifiedMatching +Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching +Orphanet:458792 Mixed cystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:458792 Mixed cystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:458792 Mixed cystic lymphatic malformation oboInOwl:hasDbXref UMLS:C5680000 semapv:UnspecifiedMatching +Orphanet:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref OMIM:616410 semapv:UnspecifiedMatching +Orphanet:458798 Spinocerebellar ataxia type 41 oboInOwl:hasDbXref UMLS:C4225158 semapv:UnspecifiedMatching +Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref OMIM:616795 semapv:UnspecifiedMatching +Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref UMLS:C4225205 semapv:UnspecifiedMatching +Orphanet:458827 Vascular tumor with associated anomalies oboInOwl:hasDbXref UMLS:C5681119 semapv:UnspecifiedMatching +Orphanet:458830 Rare capillary malformation with associated anomalies oboInOwl:hasDbXref UMLS:C5681120 semapv:UnspecifiedMatching +Orphanet:458833 Common cystic lymphatic malformation oboInOwl:hasDbXref UMLS:C5681116 semapv:UnspecifiedMatching +Orphanet:458837 Rare combined vascular malformation oboInOwl:hasDbXref UMLS:C5681115 semapv:UnspecifiedMatching +Orphanet:458844 Rare vascular malformation of major vessels oboInOwl:hasDbXref UMLS:C5681117 semapv:UnspecifiedMatching +Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref OMIM:616267 semapv:UnspecifiedMatching +Orphanet:459033 Ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref UMLS:C4225397 semapv:UnspecifiedMatching +Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref OMIM:616583 semapv:UnspecifiedMatching +Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type oboInOwl:hasDbXref UMLS:C4225273 semapv:UnspecifiedMatching +Orphanet:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref OMIM:616680 semapv:UnspecifiedMatching +Orphanet:459056 Autosomal recessive spastic paraplegia type 75 oboInOwl:hasDbXref UMLS:C4225250 semapv:UnspecifiedMatching +Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616901 semapv:UnspecifiedMatching +Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:620062 semapv:UnspecifiedMatching +Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4310801 semapv:UnspecifiedMatching +Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:300998 semapv:UnspecifiedMatching +Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C5681118 semapv:UnspecifiedMatching +Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome oboInOwl:hasDbXref UMLS:C5679998 semapv:UnspecifiedMatching +Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency oboInOwl:hasDbXref UMLS:C5681110 semapv:UnspecifiedMatching +Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency oboInOwl:hasDbXref UMLS:C5681111 semapv:UnspecifiedMatching +Orphanet:459526 Rare genetic capillary malformation oboInOwl:hasDbXref UMLS:C5681109 semapv:UnspecifiedMatching +Orphanet:459537 Genetic complex vascular malformation with associated anomalies oboInOwl:hasDbXref UMLS:C5679997 semapv:UnspecifiedMatching +Orphanet:459543 Rare genetic vascular tumor oboInOwl:hasDbXref UMLS:C5681112 semapv:UnspecifiedMatching +Orphanet:459548 Rare genetic venous malformation oboInOwl:hasDbXref UMLS:C5681113 semapv:UnspecifiedMatching +Orphanet:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching +Orphanet:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching +Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome oboInOwl:hasDbXref UMLS:C5681114 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref MESH:C538235 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref MedDRA:10081681 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref OMIM:103050 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref UMLS:C0268126 semapv:UnspecifiedMatching +Orphanet:46 Adenylosuccinate lyase deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref MESH:C537880 semapv:UnspecifiedMatching +Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref OMIM:607330 semapv:UnspecifiedMatching +Orphanet:46059 Lathosterolosis oboInOwl:hasDbXref UMLS:C1846421 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:300001 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching +Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C2720163 semapv:UnspecifiedMatching +Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref MedDRA:10036685 semapv:UnspecifiedMatching +Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref UMLS:C0280803 semapv:UnspecifiedMatching +Orphanet:46135 Primary central nervous system lymphoma oboInOwl:hasDbXref icd11:2A8Z semapv:UnspecifiedMatching +Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching +Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching +Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref MedDRA:10081856 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 semapv:UnspecifiedMatching +Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS:C1833661 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref ICD10:Q82.3 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref ICD10:Q82.3 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref MedDRA:10077624 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref OMIM:308300 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref UMLS:C0021171 semapv:UnspecifiedMatching +Orphanet:464 Incontinentia pigmenti oboInOwl:hasDbXref icd11:LD27.00 semapv:UnspecifiedMatching +Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref OMIM:616756 semapv:UnspecifiedMatching +Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome oboInOwl:hasDbXref UMLS:C5568869 semapv:UnspecifiedMatching +Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref OMIM:617157 semapv:UnspecifiedMatching +Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5568868 semapv:UnspecifiedMatching +Orphanet:464293 NON RARE IN EUROPE: Infantile capillary hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:464293 NON RARE IN EUROPE: Infantile capillary hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching +Orphanet:464306 DYRK1A-related intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5568143 semapv:UnspecifiedMatching +Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching +Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation oboInOwl:hasDbXref UMLS:C5679991 semapv:UnspecifiedMatching +Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref UMLS:C0334540 semapv:UnspecifiedMatching +Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C5575322 semapv:UnspecifiedMatching +Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref UMLS:C5681097 semapv:UnspecifiedMatching +Orphanet:464329 Kaposiform lymphangiomatosis oboInOwl:hasDbXref icd11:2E81.10 semapv:UnspecifiedMatching +Orphanet:464336 BENTA disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:464336 BENTA disease oboInOwl:hasDbXref OMIM:616452 semapv:UnspecifiedMatching +Orphanet:464336 BENTA disease oboInOwl:hasDbXref UMLS:C4551967 semapv:UnspecifiedMatching +Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching +Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching +Orphanet:464343 Catastrophic antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C3662487 semapv:UnspecifiedMatching +Orphanet:464359 Benign metanephric tumor oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching +Orphanet:464359 Benign metanephric tumor oboInOwl:hasDbXref UMLS:C5681098 semapv:UnspecifiedMatching +Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref OMIM:617022 semapv:UnspecifiedMatching +Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref UMLS:C5568141 semapv:UnspecifiedMatching +Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 semapv:UnspecifiedMatching +Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 semapv:UnspecifiedMatching +Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref UMLS:C0272176 semapv:UnspecifiedMatching +Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref OMIM:616411 semapv:UnspecifiedMatching +Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref UMLS:C4225336 semapv:UnspecifiedMatching +Orphanet:464443 COG6-CGD oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:464443 COG6-CGD oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:464443 COG6-CGD oboInOwl:hasDbXref OMIM:614576 semapv:UnspecifiedMatching +Orphanet:464443 COG6-CGD oboInOwl:hasDbXref UMLS:C3553230 semapv:UnspecifiedMatching +Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref ICD10:D74.8 semapv:UnspecifiedMatching +Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref ICD10:D74.8 semapv:UnspecifiedMatching +Orphanet:464453 Acquired methemoglobinemia oboInOwl:hasDbXref UMLS:C0271905 semapv:UnspecifiedMatching +Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching +Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching +Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref UMLS:C0237963 semapv:UnspecifiedMatching +Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref icd11:NE60 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching +Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching +Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching +Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:616483 semapv:UnspecifiedMatching +Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref OMIM:618641 semapv:UnspecifiedMatching +Orphanet:464724 Fever-associated acute infantile liver failure syndrome oboInOwl:hasDbXref UMLS:C5681094 semapv:UnspecifiedMatching +Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref OMIM:616449 semapv:UnspecifiedMatching +Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome oboInOwl:hasDbXref UMLS:C4225323 semapv:UnspecifiedMatching +Orphanet:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref ICD10:C16.9 semapv:UnspecifiedMatching +Orphanet:464756 Familial gastric type 1 neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5681095 semapv:UnspecifiedMatching +Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref OMIM:611543 semapv:UnspecifiedMatching +Orphanet:464760 Familial cavitary optic disc anomaly oboInOwl:hasDbXref UMLS:C1969063 semapv:UnspecifiedMatching +Orphanet:464764 Immune-mediated acquired neuromuscular junction disease oboInOwl:hasDbXref UMLS:C5681096 semapv:UnspecifiedMatching +Orphanet:46484 Oligodendroglial tumor oboInOwl:hasDbXref UMLS:C1335110 semapv:UnspecifiedMatching +Orphanet:46485 Superficial pemphigus oboInOwl:hasDbXref UMLS:C5681323 semapv:UnspecifiedMatching +Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref ICD10:L12.1 semapv:UnspecifiedMatching +Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref ICD10:L12.1 semapv:UnspecifiedMatching +Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref MedDRA:10057052 semapv:UnspecifiedMatching +Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref OMIM:164185 semapv:UnspecifiedMatching +Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref UMLS:C0030804 semapv:UnspecifiedMatching +Orphanet:46486 Mucous membrane pemphigoid oboInOwl:hasDbXref icd11:EB41.1 semapv:UnspecifiedMatching +Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref ICD10:L12.3 semapv:UnspecifiedMatching +Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref ICD10:L12.3 semapv:UnspecifiedMatching +Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref MESH:D016107 semapv:UnspecifiedMatching +Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref MedDRA:10056508 semapv:UnspecifiedMatching +Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS:C0079293 semapv:UnspecifiedMatching +Orphanet:46487 Epidermolysis bullosa acquisita oboInOwl:hasDbXref icd11:EB43 semapv:UnspecifiedMatching +Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref MESH:D062027 semapv:UnspecifiedMatching +Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref MedDRA:10024515 semapv:UnspecifiedMatching +Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref UMLS:C0406650 semapv:UnspecifiedMatching +Orphanet:46488 Linear IgA dermatosis oboInOwl:hasDbXref icd11:EB42 semapv:UnspecifiedMatching +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref OMIM:613329 semapv:UnspecifiedMatching +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref UMLS:C4273899 semapv:UnspecifiedMatching +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency oboInOwl:hasDbXref icd11:3B50.1 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:141749 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:142335 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:142470 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:305435 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref OMIM:613566 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0271994 semapv:UnspecifiedMatching +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome oboInOwl:hasDbXref icd11:3A50.4 semapv:UnspecifiedMatching +Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref OMIM:235200 semapv:UnspecifiedMatching +Orphanet:465508 Symptomatic form of HFE-related hemochromatosis oboInOwl:hasDbXref UMLS:C5679990 semapv:UnspecifiedMatching +Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref OMIM:613630 semapv:UnspecifiedMatching +Orphanet:465824 Fetal encasement syndrome oboInOwl:hasDbXref UMLS:C3150891 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref MESH:D034062 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref MedDRA:10072077 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref OMIM:600072 semapv:UnspecifiedMatching +Orphanet:466 Fatal familial insomnia oboInOwl:hasDbXref UMLS:C0206042 semapv:UnspecifiedMatching +Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.0 semapv:UnspecifiedMatching +Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:300908 semapv:UnspecifiedMatching +Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5680005 semapv:UnspecifiedMatching +Orphanet:466066 Genetic hemoglobinopathy oboInOwl:hasDbXref UMLS:C5681131 semapv:UnspecifiedMatching +Orphanet:466084 Genetic otorhinolaryngologic disease oboInOwl:hasDbXref UMLS:C5681130 semapv:UnspecifiedMatching +Orphanet:46627 Char syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:46627 Char syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:46627 Char syndrome oboInOwl:hasDbXref MESH:C566815 semapv:UnspecifiedMatching +Orphanet:46627 Char syndrome oboInOwl:hasDbXref OMIM:169100 semapv:UnspecifiedMatching +Orphanet:46627 Char syndrome oboInOwl:hasDbXref UMLS:C1868570 semapv:UnspecifiedMatching +Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching +Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref UMLS:C4544037 semapv:UnspecifiedMatching +Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref icd11:NF06.0 semapv:UnspecifiedMatching +Orphanet:466658 Rare disease with malignant hyperthermia oboInOwl:hasDbXref UMLS:C5681128 semapv:UnspecifiedMatching +Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching +Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching +Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref ICD10:T65.0 semapv:UnspecifiedMatching +Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref UMLS:C0238080 semapv:UnspecifiedMatching +Orphanet:466673 NON RARE IN EUROPE: Post-herpetic neuralgia oboInOwl:hasDbXref ICD10:G53.0 semapv:UnspecifiedMatching +Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref ICD10:T63.2 semapv:UnspecifiedMatching +Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref MESH:D065008 semapv:UnspecifiedMatching +Orphanet:466677 Scorpion envenomation oboInOwl:hasDbXref UMLS:C0238417 semapv:UnspecifiedMatching +Orphanet:466682 Euthyroid Graves orbitopathy oboInOwl:hasDbXref ICD10:H05.2 semapv:UnspecifiedMatching +Orphanet:466682 Euthyroid Graves orbitopathy oboInOwl:hasDbXref ICD10:H05.2 semapv:UnspecifiedMatching +Orphanet:466682 Euthyroid Graves orbitopathy oboInOwl:hasDbXref UMLS:C5680004 semapv:UnspecifiedMatching +Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref OMIM:616819 semapv:UnspecifiedMatching +Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome oboInOwl:hasDbXref UMLS:C4225193 semapv:UnspecifiedMatching +Orphanet:466695 Supratip dysplasia oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching +Orphanet:466695 Supratip dysplasia oboInOwl:hasDbXref UMLS:C5681127 semapv:UnspecifiedMatching +Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref OMIM:616829 semapv:UnspecifiedMatching +Orphanet:466703 TMEM199-CDG oboInOwl:hasDbXref UMLS:C4225190 semapv:UnspecifiedMatching +Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref OMIM:617111 semapv:UnspecifiedMatching +Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy oboInOwl:hasDbXref UMLS:C4310713 semapv:UnspecifiedMatching +Orphanet:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref OMIM:617046 semapv:UnspecifiedMatching +Orphanet:466722 Autosomal recessive spastic paraplegia type 77 oboInOwl:hasDbXref UMLS:C5569007 semapv:UnspecifiedMatching +Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching +Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching +Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:607411 semapv:UnspecifiedMatching +Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:617035 semapv:UnspecifiedMatching +Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref OMIM:617039 semapv:UnspecifiedMatching +Orphanet:466729 Familial patent arterial duct oboInOwl:hasDbXref UMLS:C5568140 semapv:UnspecifiedMatching +Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref OMIM:616688 semapv:UnspecifiedMatching +Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z oboInOwl:hasDbXref UMLS:C5569025 semapv:UnspecifiedMatching +Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref OMIM:616668 semapv:UnspecifiedMatching +Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X oboInOwl:hasDbXref UMLS:C5569024 semapv:UnspecifiedMatching +Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref OMIM:616794 semapv:UnspecifiedMatching +Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect oboInOwl:hasDbXref UMLS:C5569081 semapv:UnspecifiedMatching +Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref OMIM:300967 semapv:UnspecifiedMatching +Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome oboInOwl:hasDbXref UMLS:C5569083 semapv:UnspecifiedMatching +Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref OMIM:616719 semapv:UnspecifiedMatching +Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome oboInOwl:hasDbXref UMLS:C5569084 semapv:UnspecifiedMatching +Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:616913 semapv:UnspecifiedMatching +Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref OMIM:619130 semapv:UnspecifiedMatching +Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect oboInOwl:hasDbXref UMLS:C5568864 semapv:UnspecifiedMatching +Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome oboInOwl:hasDbXref UMLS:C5568863 semapv:UnspecifiedMatching +Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref OMIM:616682 semapv:UnspecifiedMatching +Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome oboInOwl:hasDbXref UMLS:C4225248 semapv:UnspecifiedMatching +Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616683 semapv:UnspecifiedMatching +Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C5568878 semapv:UnspecifiedMatching +Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching +Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome oboInOwl:hasDbXref UMLS:C5568862 semapv:UnspecifiedMatching +Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching +Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation oboInOwl:hasDbXref UMLS:C5681129 semapv:UnspecifiedMatching +Orphanet:466962 SMARCA4-deficient sarcoma of thorax oboInOwl:hasDbXref ICD10:C49.3 semapv:UnspecifiedMatching +Orphanet:466962 SMARCA4-deficient sarcoma of thorax oboInOwl:hasDbXref ICD10:C49.3 semapv:UnspecifiedMatching +Orphanet:466962 SMARCA4-deficient sarcoma of thorax oboInOwl:hasDbXref UMLS:C5554190 semapv:UnspecifiedMatching +Orphanet:467 Non-acquired combined pituitary hormone deficiency oboInOwl:hasDbXref UMLS:C5680091 semapv:UnspecifiedMatching +Orphanet:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:467166 Tubulinopathy-associated dysgyria oboInOwl:hasDbXref UMLS:C5568850 semapv:UnspecifiedMatching +Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref OMIM:616816 semapv:UnspecifiedMatching +Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome oboInOwl:hasDbXref UMLS:C5568849 semapv:UnspecifiedMatching +Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref MESH:D002538 semapv:UnspecifiedMatching +Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref OMIM:108010 semapv:UnspecifiedMatching +Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref UMLS:C0917804 semapv:UnspecifiedMatching +Orphanet:46724 Cerebral arteriovenous malformation oboInOwl:hasDbXref icd11:8B22.40 semapv:UnspecifiedMatching +Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref OMIM:617171 semapv:UnspecifiedMatching +Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome oboInOwl:hasDbXref UMLS:C5568848 semapv:UnspecifiedMatching +Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref OMIM:614833 semapv:UnspecifiedMatching +Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency oboInOwl:hasDbXref UMLS:C3553831 semapv:UnspecifiedMatching +Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref OMIM:618372 semapv:UnspecifiedMatching +Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis oboInOwl:hasDbXref UMLS:C4302263 semapv:UnspecifiedMatching +Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching +Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene oboInOwl:hasDbXref UMLS:C5568838 semapv:UnspecifiedMatching +Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref OMIM:616451 semapv:UnspecifiedMatching +Orphanet:468661 Autosomal recessive spastic paraplegia type 74 oboInOwl:hasDbXref UMLS:C5568837 semapv:UnspecifiedMatching +Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref OMIM:106190 semapv:UnspecifiedMatching +Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands oboInOwl:hasDbXref UMLS:C5568836 semapv:UnspecifiedMatching +Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref MESH:C566533 semapv:UnspecifiedMatching +Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref OMIM:602499 semapv:UnspecifiedMatching +Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome oboInOwl:hasDbXref UMLS:C1865286 semapv:UnspecifiedMatching +Orphanet:468678 White-Sutton syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:468678 White-Sutton syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:468678 White-Sutton syndrome oboInOwl:hasDbXref OMIM:616364 semapv:UnspecifiedMatching +Orphanet:468678 White-Sutton syndrome oboInOwl:hasDbXref UMLS:C4225351 semapv:UnspecifiedMatching +Orphanet:468684 CCDC115-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:468684 CCDC115-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:468684 CCDC115-CDG oboInOwl:hasDbXref OMIM:616828 semapv:UnspecifiedMatching +Orphanet:468684 CCDC115-CDG oboInOwl:hasDbXref UMLS:C4225191 semapv:UnspecifiedMatching +Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref OMIM:616721 semapv:UnspecifiedMatching +Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref UMLS:C4225234 semapv:UnspecifiedMatching +Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching +Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref OMIM:602079 semapv:UnspecifiedMatching +Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref UMLS:C5575503 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref ICD10:E74.1 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref MESH:D005633 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref MedDRA:10019878 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref OMIM:229600 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref UMLS:C0016751 semapv:UnspecifiedMatching +Orphanet:469 Hereditary fructose intolerance oboInOwl:hasDbXref icd11:5C51.50 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref ICD10:D80.0 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref MESH:C537409 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref MedDRA:10060360 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS:C0221026 semapv:UnspecifiedMatching +Orphanet:47 X-linked agammaglobulinemia oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref MESH:C562687 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref MedDRA:10058300 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref OMIM:222700 semapv:UnspecifiedMatching +Orphanet:470 Lysinuric protein intolerance oboInOwl:hasDbXref UMLS:C0268647 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref MedDRA:10067943 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching +Orphanet:47044 Hereditary papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C0879257 semapv:UnspecifiedMatching +Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching +Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching +Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref MedDRA:10064570 semapv:UnspecifiedMatching +Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref OMIM:120100 semapv:UnspecifiedMatching +Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref UMLS:C0343068 semapv:UnspecifiedMatching +Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome oboInOwl:hasDbXref UMLS:C5681265 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref MedDRA:10037080 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:604278 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C0268435 semapv:UnspecifiedMatching +Orphanet:47159 Proximal renal tubular acidosis oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching +Orphanet:472 Isosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching +Orphanet:472 Isosporiasis oboInOwl:hasDbXref ICD10:A07.3 semapv:UnspecifiedMatching +Orphanet:472 Isosporiasis oboInOwl:hasDbXref MESH:D021865 semapv:UnspecifiedMatching +Orphanet:472 Isosporiasis oboInOwl:hasDbXref MedDRA:10023076 semapv:UnspecifiedMatching +Orphanet:472 Isosporiasis oboInOwl:hasDbXref UMLS:C0311386 semapv:UnspecifiedMatching +Orphanet:472 Isosporiasis oboInOwl:hasDbXref icd11:1A33 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref MESH:C537571 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref MedDRA:10057621 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:208500 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:611263 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:613819 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:614376 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:616300 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:617088 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref OMIM:619479 semapv:UnspecifiedMatching +Orphanet:474 Jeune syndrome oboInOwl:hasDbXref UMLS:C0265275 semapv:UnspecifiedMatching +Orphanet:474347 Rare congenital anomaly of ventricular septum oboInOwl:hasDbXref UMLS:C5680111 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref MedDRA:10078574 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:213300 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:608091 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:608629 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:610188 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:610688 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:612285 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:612291 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614173 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614464 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614465 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614615 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614815 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:614970 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:615636 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:615665 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616490 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616654 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616781 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:616784 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617120 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617121 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617622 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617757 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617761 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:617767 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:618161 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:618763 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619185 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619476 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619562 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref OMIM:619582 semapv:UnspecifiedMatching +Orphanet:475 Joubert syndrome oboInOwl:hasDbXref UMLS:C0431399 semapv:UnspecifiedMatching +Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIM:616812 semapv:UnspecifiedMatching +Orphanet:476084 BVES-related limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C5568138 semapv:UnspecifiedMatching +Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome oboInOwl:hasDbXref UMLS:C5568137 semapv:UnspecifiedMatching +Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:615821 semapv:UnspecifiedMatching +Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C5568136 semapv:UnspecifiedMatching +Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:301074 semapv:UnspecifiedMatching +Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:616744 semapv:UnspecifiedMatching +Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref UMLS:C5568804 semapv:UnspecifiedMatching +Orphanet:476109 Axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680107 semapv:UnspecifiedMatching +Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref OMIM:616740 semapv:UnspecifiedMatching +Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref UMLS:C5568133 semapv:UnspecifiedMatching +Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680106 semapv:UnspecifiedMatching +Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome oboInOwl:hasDbXref UMLS:C5681262 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref MESH:D005258 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref MedDRA:10016386 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref OMIM:134750 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref UMLS:C0015773 semapv:UnspecifiedMatching +Orphanet:47612 Felty syndrome oboInOwl:hasDbXref icd11:FA20.0 semapv:UnspecifiedMatching +Orphanet:476123 Intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C5680108 semapv:UnspecifiedMatching +Orphanet:476123 Intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref OMIM:617061 semapv:UnspecifiedMatching +Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5568801 semapv:UnspecifiedMatching +Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref OMIM:618279 semapv:UnspecifiedMatching +Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C5567891 semapv:UnspecifiedMatching +Orphanet:476403 Hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref UMLS:C5681263 semapv:UnspecifiedMatching +Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome oboInOwl:hasDbXref UMLS:C5567789 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref MESH:C536168 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref MedDRA:10048786 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:148210 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:242150 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref OMIM:602540 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref UMLS:C0265336 semapv:UnspecifiedMatching +Orphanet:477 KID syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:477647 Type 1 interferonopathy oboInOwl:hasDbXref UMLS:C5681258 semapv:UnspecifiedMatching +Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref ICD10:M06.4 semapv:UnspecifiedMatching +Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref UMLS:C1302753 semapv:UnspecifiedMatching +Orphanet:477650 Fibroblastic rheumatism oboInOwl:hasDbXref icd11:FB51.3 semapv:UnspecifiedMatching +Orphanet:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref OMIM:615767 semapv:UnspecifiedMatching +Orphanet:477661 IL21-related infantile inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5567788 semapv:UnspecifiedMatching +Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616281 semapv:UnspecifiedMatching +Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5567787 semapv:UnspecifiedMatching +Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref OMIM:616539 semapv:UnspecifiedMatching +Orphanet:477684 Combined oxidative phosphorylation defect type 26 oboInOwl:hasDbXref UMLS:C5567741 semapv:UnspecifiedMatching +Orphanet:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching +Orphanet:477738 Pediatric multiple sclerosis oboInOwl:hasDbXref UMLS:C5568571 semapv:UnspecifiedMatching +Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching +Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref MedDRA:10065988 semapv:UnspecifiedMatching +Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref UMLS:C0410005 semapv:UnspecifiedMatching +Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref OMIM:618564 semapv:UnspecifiedMatching +Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref UMLS:C5231411 semapv:UnspecifiedMatching +Orphanet:477754 Genetic cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5681259 semapv:UnspecifiedMatching +Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5680103 semapv:UnspecifiedMatching +Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy oboInOwl:hasDbXref UMLS:C5680105 semapv:UnspecifiedMatching +Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy oboInOwl:hasDbXref UMLS:C5680104 semapv:UnspecifiedMatching +Orphanet:477768 Moyamoya angiopathy oboInOwl:hasDbXref UMLS:C5681261 semapv:UnspecifiedMatching +Orphanet:477771 Rare disorder with a moyamoya angiopathy oboInOwl:hasDbXref UMLS:C5681260 semapv:UnspecifiedMatching +Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref OMIM:616672 semapv:UnspecifiedMatching +Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref UMLS:C5567608 semapv:UnspecifiedMatching +Orphanet:477781 Primary condylar hyperplasia oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching +Orphanet:477781 Primary condylar hyperplasia oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching +Orphanet:477781 Primary condylar hyperplasia oboInOwl:hasDbXref UMLS:C5568570 semapv:UnspecifiedMatching +Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref OMIM:618372 semapv:UnspecifiedMatching +Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder oboInOwl:hasDbXref UMLS:C5567651 semapv:UnspecifiedMatching +Orphanet:477794 Syndromic constitutional thrombocytopenia oboInOwl:hasDbXref UMLS:C5681257 semapv:UnspecifiedMatching +Orphanet:477797 Isolated constitutional thrombocytopenia oboInOwl:hasDbXref UMLS:C5680102 semapv:UnspecifiedMatching +Orphanet:477805 Genetic cardiac malformation oboInOwl:hasDbXref UMLS:C5681255 semapv:UnspecifiedMatching +Orphanet:477808 Other genetic dermis disorder oboInOwl:hasDbXref UMLS:C5681256 semapv:UnspecifiedMatching +Orphanet:477811 Rare hypercholesterolemia oboInOwl:hasDbXref UMLS:C5681254 semapv:UnspecifiedMatching +Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref OMIM:616632 semapv:UnspecifiedMatching +Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5567650 semapv:UnspecifiedMatching +Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref OMIM:616652 semapv:UnspecifiedMatching +Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome oboInOwl:hasDbXref UMLS:C4225255 semapv:UnspecifiedMatching +Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref MedDRA:10081313 semapv:UnspecifiedMatching +Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref OMIM:616592 semapv:UnspecifiedMatching +Orphanet:477831 Kosaki overgrowth syndrome oboInOwl:hasDbXref UMLS:C4225270 semapv:UnspecifiedMatching +Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref OMIM:616622 semapv:UnspecifiedMatching +Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency oboInOwl:hasDbXref UMLS:C5567647 semapv:UnspecifiedMatching +Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref OMIM:616728 semapv:UnspecifiedMatching +Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5567644 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref MedDRA:10053142 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:308700 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:610628 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:612370 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:612702 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614837 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614838 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614880 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:614897 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615267 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615269 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615270 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:615271 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:616030 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref OMIM:618841 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref UMLS:C0162809 semapv:UnspecifiedMatching +Orphanet:478 Kallmann syndrome oboInOwl:hasDbXref icd11:5A61.2 semapv:UnspecifiedMatching +Orphanet:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref OMIM:616811 semapv:UnspecifiedMatching +Orphanet:478029 Combined oxidative phosphorylation defect type 29 oboInOwl:hasDbXref UMLS:C5567607 semapv:UnspecifiedMatching +Orphanet:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref OMIM:616974 semapv:UnspecifiedMatching +Orphanet:478042 Combined oxidative phosphorylation defect type 30 oboInOwl:hasDbXref UMLS:C5567605 semapv:UnspecifiedMatching +Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref OMIM:617228 semapv:UnspecifiedMatching +Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5567603 semapv:UnspecifiedMatching +Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref OMIM:616488 semapv:UnspecifiedMatching +Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref UMLS:C4225308 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref ICD10:Q55.4 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MESH:C535984 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref MedDRA:10010670 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:277180 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:300985 semapv:UnspecifiedMatching +Orphanet:48 Congenital bilateral absence of vas deferens oboInOwl:hasDbXref UMLS:C0403814 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref MedDRA:10048804 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 semapv:UnspecifiedMatching +Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS:C0022541 semapv:UnspecifiedMatching +Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching +Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching +Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching +Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619868 semapv:UnspecifiedMatching +Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C5680100 semapv:UnspecifiedMatching +Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching +Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref ICD10:Q44.4 semapv:UnspecifiedMatching +Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref MESH:D015529 semapv:UnspecifiedMatching +Orphanet:480501 Choledochal cyst oboInOwl:hasDbXref UMLS:C0008340 semapv:UnspecifiedMatching +Orphanet:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref ICD10:K80.3 semapv:UnspecifiedMatching +Orphanet:480506 Primary intrahepatic lithiasis oboInOwl:hasDbXref UMLS:C5576557 semapv:UnspecifiedMatching +Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref ICD10:K83.8 semapv:UnspecifiedMatching +Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref ICD10:K83.8 semapv:UnspecifiedMatching +Orphanet:480512 Idiopathic ductopenia oboInOwl:hasDbXref UMLS:C0022230 semapv:UnspecifiedMatching +Orphanet:480520 Caroli syndrome oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref ICD10:K76.4 semapv:UnspecifiedMatching +Orphanet:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref ICD10:K76.4 semapv:UnspecifiedMatching +Orphanet:480524 Idiopathic peliosis hepatis oboInOwl:hasDbXref UMLS:C5680101 semapv:UnspecifiedMatching +Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome oboInOwl:hasDbXref UMLS:C5567527 semapv:UnspecifiedMatching +Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref ICD10:Q26.5 semapv:UnspecifiedMatching +Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref ICD10:Q26.5 semapv:UnspecifiedMatching +Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref UMLS:C1290495 semapv:UnspecifiedMatching +Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching +Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref UMLS:C5681249 semapv:UnspecifiedMatching +Orphanet:480549 Non-severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C5680098 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref ICD10:M85.5 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref ICD10:M85.5 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref MESH:D017824 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref UMLS:C0152244 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref icd11:FB80.6 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref icd11:XH23E0 semapv:UnspecifiedMatching +Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref OMIM:617394 semapv:UnspecifiedMatching +Orphanet:480556 Isolated neonatal sclerosing cholangitis oboInOwl:hasDbXref UMLS:C5681248 semapv:UnspecifiedMatching +Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref OMIM:617232 semapv:UnspecifiedMatching +Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 oboInOwl:hasDbXref UMLS:C4310660 semapv:UnspecifiedMatching +Orphanet:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:480701 Facial diplegia with paresthesias oboInOwl:hasDbXref UMLS:C5567526 semapv:UnspecifiedMatching +Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref OMIM:616937 semapv:UnspecifiedMatching +Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis oboInOwl:hasDbXref UMLS:C4310789 semapv:UnspecifiedMatching +Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616878 semapv:UnspecifiedMatching +Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5567524 semapv:UnspecifiedMatching +Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability oboInOwl:hasDbXref OMIM:300968 semapv:UnspecifiedMatching +Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability oboInOwl:hasDbXref UMLS:C5567523 semapv:UnspecifiedMatching +Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref OMIM:616875 semapv:UnspecifiedMatching +Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome oboInOwl:hasDbXref UMLS:C5567522 semapv:UnspecifiedMatching +Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref OMIM:300966 semapv:UnspecifiedMatching +Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref UMLS:C4225418 semapv:UnspecifiedMatching +Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:481 Kennedy disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:481 Kennedy disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:481 Kennedy disease oboInOwl:hasDbXref MedDRA:10068600 semapv:UnspecifiedMatching +Orphanet:481 Kennedy disease oboInOwl:hasDbXref OMIM:313200 semapv:UnspecifiedMatching +Orphanet:481 Kennedy disease oboInOwl:hasDbXref UMLS:C1839259 semapv:UnspecifiedMatching +Orphanet:481 Kennedy disease oboInOwl:hasDbXref icd11:8B61.4 semapv:UnspecifiedMatching +Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MESH:D017511 semapv:UnspecifiedMatching +Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref MedDRA:10037635 semapv:UnspecifiedMatching +Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C0085652 semapv:UnspecifiedMatching +Orphanet:48104 Pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy oboInOwl:hasDbXref OMIM:616420 semapv:UnspecifiedMatching +Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy oboInOwl:hasDbXref UMLS:C4225332 semapv:UnspecifiedMatching +Orphanet:481508 Gastroenteric neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C5681253 semapv:UnspecifiedMatching +Orphanet:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref MedDRA:10065580 semapv:UnspecifiedMatching +Orphanet:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref UMLS:C1695985 semapv:UnspecifiedMatching +Orphanet:48162 Lewis-Sumner syndrome oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching +Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref OMIM:610448 semapv:UnspecifiedMatching +Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref OMIM:614415 semapv:UnspecifiedMatching +Orphanet:481662 Familial Chilblain lupus oboInOwl:hasDbXref UMLS:C5681252 semapv:UnspecifiedMatching +Orphanet:481665 USP18 deficiency oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:481665 USP18 deficiency oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:481665 USP18 deficiency oboInOwl:hasDbXref OMIM:617397 semapv:UnspecifiedMatching +Orphanet:481665 USP18 deficiency oboInOwl:hasDbXref UMLS:C4479376 semapv:UnspecifiedMatching +Orphanet:481671 Type 1 interferonopathy of childhood oboInOwl:hasDbXref UMLS:C5681250 semapv:UnspecifiedMatching +Orphanet:481771 Genetic alopecia oboInOwl:hasDbXref UMLS:C5681251 semapv:UnspecifiedMatching +Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref MESH:C538514 semapv:UnspecifiedMatching +Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMatching +Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref UMLS:C2931870 semapv:UnspecifiedMatching +Orphanet:481986 Familial schizencephaly oboInOwl:hasDbXref icd11:LA05.61 semapv:UnspecifiedMatching +Orphanet:482 Kimura disease oboInOwl:hasDbXref ICD10:I89.8 semapv:UnspecifiedMatching +Orphanet:482 Kimura disease oboInOwl:hasDbXref MESH:D000082242 semapv:UnspecifiedMatching +Orphanet:482 Kimura disease oboInOwl:hasDbXref MedDRA:10048640 semapv:UnspecifiedMatching +Orphanet:482 Kimura disease oboInOwl:hasDbXref UMLS:C0033838 semapv:UnspecifiedMatching +Orphanet:482072 HTRA1-related cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5680099 semapv:UnspecifiedMatching +Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref OMIM:616779 semapv:UnspecifiedMatching +Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5568568 semapv:UnspecifiedMatching +Orphanet:482092 Rare idiopathic macular telangiectasia oboInOwl:hasDbXref UMLS:C5681247 semapv:UnspecifiedMatching +Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref OMIM:617030 semapv:UnspecifiedMatching +Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref UMLS:C5567521 semapv:UnspecifiedMatching +Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome oboInOwl:hasDbXref UMLS:C5567520 semapv:UnspecifiedMatching +Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching +Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref UMLS:C5681236 semapv:UnspecifiedMatching +Orphanet:48372 Nodular regenerative hyperplasia of the liver oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:48372 Nodular regenerative hyperplasia of the liver oboInOwl:hasDbXref icd11:DB98.2 semapv:UnspecifiedMatching +Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10:L13.1 semapv:UnspecifiedMatching +Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10:L13.1 semapv:UnspecifiedMatching +Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref MedDRA:10042342 semapv:UnspecifiedMatching +Orphanet:48377 Subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS:C0600336 semapv:UnspecifiedMatching +Orphanet:484 NON RARE IN EUROPE: Klinefelter syndrome oboInOwl:hasDbXref ICD10:Q98.0 semapv:UnspecifiedMatching +Orphanet:484 NON RARE IN EUROPE: Klinefelter syndrome oboInOwl:hasDbXref ICD10:Q98.0 semapv:UnspecifiedMatching +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref MESH:C565822 semapv:UnspecifiedMatching +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref OMIM:604168 semapv:UnspecifiedMatching +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref UMLS:C1858726 semapv:UnspecifiedMatching +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:48435 Postinfectious vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching +Orphanet:48435 Postinfectious vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching +Orphanet:48435 Postinfectious vasculitis oboInOwl:hasDbXref UMLS:C4510302 semapv:UnspecifiedMatching +Orphanet:48471 Lissencephaly oboInOwl:hasDbXref MESH:D054082 semapv:UnspecifiedMatching +Orphanet:48471 Lissencephaly oboInOwl:hasDbXref MedDRA:10048911 semapv:UnspecifiedMatching +Orphanet:48471 Lissencephaly oboInOwl:hasDbXref UMLS:C0266463 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref MedDRA:10081685 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref OMIM:156550 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref UMLS:C0265279 semapv:UnspecifiedMatching +Orphanet:485 Kniest dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:485275 Acquired schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:485275 Acquired schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:485275 Acquired schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMatching +Orphanet:485275 Acquired schizencephaly oboInOwl:hasDbXref UMLS:C5681246 semapv:UnspecifiedMatching +Orphanet:485275 Acquired schizencephaly oboInOwl:hasDbXref icd11:LA05.61 semapv:UnspecifiedMatching +Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:F78.1 semapv:UnspecifiedMatching +Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:F78.1 semapv:UnspecifiedMatching +Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:300114 semapv:UnspecifiedMatching +Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796221 semapv:UnspecifiedMatching +Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref UMLS:C5567519 semapv:UnspecifiedMatching +Orphanet:485382 Genetic premature ovarian failure oboInOwl:hasDbXref UMLS:C5681245 semapv:UnspecifiedMatching +Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref ICD10:Q93.7 semapv:UnspecifiedMatching +Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref UMLS:C5680097 semapv:UnspecifiedMatching +Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref UMLS:C5681244 semapv:UnspecifiedMatching +Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching +Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref UMLS:C5680096 semapv:UnspecifiedMatching +Orphanet:485631 Congenital bile acid synthesis defect oboInOwl:hasDbXref UMLS:C5680095 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:202700 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:257100 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:613107 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:618752 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:619813 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref UMLS:C4749612 semapv:UnspecifiedMatching +Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref MESH:C536801 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref MedDRA:10082417 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref UMLS:C1853490 semapv:UnspecifiedMatching +Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref icd11:LD44.NY semapv:UnspecifiedMatching +Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616866 semapv:UnspecifiedMatching +Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616867 semapv:UnspecifiedMatching +Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref UMLS:C5567518 semapv:UnspecifiedMatching +Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref OMIM:617066 semapv:UnspecifiedMatching +Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome oboInOwl:hasDbXref UMLS:C4310736 semapv:UnspecifiedMatching +Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching +Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MESH:D054685 semapv:UnspecifiedMatching +Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MedDRA:10065857 semapv:UnspecifiedMatching +Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref UMLS:C1292753 semapv:UnspecifiedMatching +Orphanet:486955 Rare pediatric rheumatologic disease oboInOwl:hasDbXref UMLS:C5681264 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref MESH:D007965 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref MedDRA:10023492 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref OMIM:611722 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref UMLS:C0023521 semapv:UnspecifiedMatching +Orphanet:487 Krabbe disease oboInOwl:hasDbXref icd11:8A44.4 semapv:UnspecifiedMatching +Orphanet:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching +Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref OMIM:616737 semapv:UnspecifiedMatching +Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref UMLS:C4225222 semapv:UnspecifiedMatching +Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching +Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching +Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref UMLS:C5680109 semapv:UnspecifiedMatching +Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation oboInOwl:hasDbXref UMLS:C5567515 semapv:UnspecifiedMatching +Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref MESH:C566559 semapv:UnspecifiedMatching +Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref OMIM:602342 semapv:UnspecifiedMatching +Orphanet:487825 Pierpont syndrome oboInOwl:hasDbXref UMLS:C1865644 semapv:UnspecifiedMatching +Orphanet:488 Urachal cyst oboInOwl:hasDbXref ICD10:Q64.4 semapv:UnspecifiedMatching +Orphanet:488 Urachal cyst oboInOwl:hasDbXref MESH:D014496 semapv:UnspecifiedMatching +Orphanet:488 Urachal cyst oboInOwl:hasDbXref MedDRA:10065375 semapv:UnspecifiedMatching +Orphanet:488 Urachal cyst oboInOwl:hasDbXref UMLS:C0041915 semapv:UnspecifiedMatching +Orphanet:488 Urachal cyst oboInOwl:hasDbXref icd11:LB03.0 semapv:UnspecifiedMatching +Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref OMIM:616834 semapv:UnspecifiedMatching +Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome oboInOwl:hasDbXref UMLS:C5567510 semapv:UnspecifiedMatching +Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref MESH:C536004 semapv:UnspecifiedMatching +Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref OMIM:604290 semapv:UnspecifiedMatching +Orphanet:48818 Aceruloplasminemia oboInOwl:hasDbXref UMLS:C0878682 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref ICD10:N97.8 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:616780 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:617743 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619009 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619011 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:619176 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref OMIM:620154 semapv:UnspecifiedMatching +Orphanet:488191 Female infertility due to oocyte meiotic arrest oboInOwl:hasDbXref UMLS:C5567489 semapv:UnspecifiedMatching +Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref OMIM:616722 semapv:UnspecifiedMatching +Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref UMLS:C5567488 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:616890 semapv:UnspecifiedMatching +Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C5567487 semapv:UnspecifiedMatching +Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref MedDRA:10086444 semapv:UnspecifiedMatching +Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref UMLS:C5200735 semapv:UnspecifiedMatching +Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref OMIM:607278 semapv:UnspecifiedMatching +Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref UMLS:C4085248 semapv:UnspecifiedMatching +Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref OMIM:616604 semapv:UnspecifiedMatching +Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref UMLS:C4225449 semapv:UnspecifiedMatching +Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref OMIM:616625 semapv:UnspecifiedMatching +Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W oboInOwl:hasDbXref UMLS:C5567486 semapv:UnspecifiedMatching +Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref MESH:C567455 semapv:UnspecifiedMatching +Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref OMIM:611929 semapv:UnspecifiedMatching +Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 oboInOwl:hasDbXref UMLS:C2677809 semapv:UnspecifiedMatching +Orphanet:488437 SIX2-related frontonasal dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:488437 SIX2-related frontonasal dysplasia oboInOwl:hasDbXref UMLS:C5567484 semapv:UnspecifiedMatching +Orphanet:488586 Congenital amyoplasia oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:488586 Congenital amyoplasia oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:488586 Congenital amyoplasia oboInOwl:hasDbXref UMLS:C0812412 semapv:UnspecifiedMatching +Orphanet:488586 Congenital amyoplasia oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching +Orphanet:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref OMIM:616907 semapv:UnspecifiedMatching +Orphanet:488594 Autosomal recessive spastic paraplegia type 76 oboInOwl:hasDbXref UMLS:C5567483 semapv:UnspecifiedMatching +Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome oboInOwl:hasDbXref OMIM:616973 semapv:UnspecifiedMatching +Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5567482 semapv:UnspecifiedMatching +Orphanet:488618 Transketolase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:488618 Transketolase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:488618 Transketolase deficiency oboInOwl:hasDbXref OMIM:617044 semapv:UnspecifiedMatching +Orphanet:488618 Transketolase deficiency oboInOwl:hasDbXref UMLS:C1291328 semapv:UnspecifiedMatching +Orphanet:488618 Transketolase deficiency oboInOwl:hasDbXref icd11:5C51.0 semapv:UnspecifiedMatching +Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617051 semapv:UnspecifiedMatching +Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5567481 semapv:UnspecifiedMatching +Orphanet:488632 TBCK-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:488632 TBCK-related intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:488632 TBCK-related intellectual disability syndrome oboInOwl:hasDbXref OMIM:616900 semapv:UnspecifiedMatching +Orphanet:488632 TBCK-related intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5567480 semapv:UnspecifiedMatching +Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref OMIM:616917 semapv:UnspecifiedMatching +Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome oboInOwl:hasDbXref UMLS:C5567479 semapv:UnspecifiedMatching +Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref OMIM:616954 semapv:UnspecifiedMatching +Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder oboInOwl:hasDbXref UMLS:C4310778 semapv:UnspecifiedMatching +Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref ICD10:C96.7 semapv:UnspecifiedMatching +Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref OMIM:616871 semapv:UnspecifiedMatching +Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome oboInOwl:hasDbXref UMLS:C5567478 semapv:UnspecifiedMatching +Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching +Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref UMLS:C3280443 semapv:UnspecifiedMatching +Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching +Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:48918 Focal myositis oboInOwl:hasDbXref UMLS:C0751357 semapv:UnspecifiedMatching +Orphanet:49 Penile agenesis oboInOwl:hasDbXref ICD10:Q55.5 semapv:UnspecifiedMatching +Orphanet:49 Penile agenesis oboInOwl:hasDbXref MESH:C536649 semapv:UnspecifiedMatching +Orphanet:49 Penile agenesis oboInOwl:hasDbXref MedDRA:10087156 semapv:UnspecifiedMatching +Orphanet:49 Penile agenesis oboInOwl:hasDbXref UMLS:C4551491 semapv:UnspecifiedMatching +Orphanet:49 Penile agenesis oboInOwl:hasDbXref icd11:LB50 semapv:UnspecifiedMatching +Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref ICD10:Q43.0 semapv:UnspecifiedMatching +Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref ICD10:Q43.0 semapv:UnspecifiedMatching +Orphanet:490 Omphalomesenteric cyst oboInOwl:hasDbXref UMLS:C0266180 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref ICD10:K66.2 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref ICD10:K66.2 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref MESH:D012185 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref MedDRA:10038979 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref OMIM:228800 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref UMLS:C0035357 semapv:UnspecifiedMatching +Orphanet:49041 IgG4-related retroperitoneal fibrosis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MESH:D003811 semapv:UnspecifiedMatching +Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref MedDRA:10054013 semapv:UnspecifiedMatching +Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C0011436 semapv:UnspecifiedMatching +Orphanet:49042 Dentinogenesis imperfecta oboInOwl:hasDbXref icd11:LA30.8 semapv:UnspecifiedMatching +Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref ICD10:L72.1 semapv:UnspecifiedMatching +Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref ICD10:L72.1 semapv:UnspecifiedMatching +Orphanet:492 Proliferating trichilemmal cyst oboInOwl:hasDbXref UMLS:C2959585 semapv:UnspecifiedMatching +Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref MESH:C536150 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref UMLS:C0157743 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref MedDRA:10000454 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:216900 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:262300 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:610024 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613093 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:613856 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref OMIM:616517 semapv:UnspecifiedMatching +Orphanet:49382 Achromatopsia oboInOwl:hasDbXref UMLS:C0152200 semapv:UnspecifiedMatching +Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref MESH:C536457 semapv:UnspecifiedMatching +Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref OMIM:124500 semapv:UnspecifiedMatching +Orphanet:494 Keratoderma hereditarium mutilans oboInOwl:hasDbXref UMLS:C0265964 semapv:UnspecifiedMatching +Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching +Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref UMLS:C5567477 semapv:UnspecifiedMatching +Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref OMIM:617068 semapv:UnspecifiedMatching +Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref UMLS:C0677055 semapv:UnspecifiedMatching +Orphanet:494421 Sacrococcygeal teratoma oboInOwl:hasDbXref ICD10:C41.4 semapv:UnspecifiedMatching +Orphanet:494421 Sacrococcygeal teratoma oboInOwl:hasDbXref UMLS:C0559459 semapv:UnspecifiedMatching +Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref ICD10:I72.0 semapv:UnspecifiedMatching +Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref UMLS:C0340639 semapv:UnspecifiedMatching +Orphanet:494424 Extracranial carotid artery aneurysm oboInOwl:hasDbXref icd11:BD51.0 semapv:UnspecifiedMatching +Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis oboInOwl:hasDbXref UMLS:C5567467 semapv:UnspecifiedMatching +Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref OMIM:617053 semapv:UnspecifiedMatching +Orphanet:494433 MIRAGE syndrome oboInOwl:hasDbXref UMLS:C4284088 semapv:UnspecifiedMatching +Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617763 semapv:UnspecifiedMatching +Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5567466 semapv:UnspecifiedMatching +Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref MESH:C565121 semapv:UnspecifiedMatching +Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:124900 semapv:UnspecifiedMatching +Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C1852282 semapv:UnspecifiedMatching +Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref MedDRA:10041875 semapv:UnspecifiedMatching +Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref icd11:2C70.2 semapv:UnspecifiedMatching +Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref MedDRA:10082639 semapv:UnspecifiedMatching +Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref icd11:2C70.0 semapv:UnspecifiedMatching +Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching +Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref MedDRA:10063536 semapv:UnspecifiedMatching +Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref UMLS:C1336975 semapv:UnspecifiedMatching +Orphanet:494457 Rare hyperkinetic movement disorder oboInOwl:hasDbXref UMLS:C5681221 semapv:UnspecifiedMatching +Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref OMIM:616921 semapv:UnspecifiedMatching +Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement oboInOwl:hasDbXref UMLS:C5567464 semapv:UnspecifiedMatching +Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref OMIM:616922 semapv:UnspecifiedMatching +Orphanet:494541 Childhood-onset benign chorea with striatal involvement oboInOwl:hasDbXref UMLS:C5567463 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C12 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.0 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.2 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.8 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref ICD10:C13.8 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref MedDRA:10041849 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref UMLS:C0280321 semapv:UnspecifiedMatching +Orphanet:494547 Squamous cell carcinoma of the hypopharynx oboInOwl:hasDbXref icd11:2B6D.0 semapv:UnspecifiedMatching +Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref ICD10:C32.8 semapv:UnspecifiedMatching +Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref ICD10:C32.8 semapv:UnspecifiedMatching +Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref MedDRA:10023856 semapv:UnspecifiedMatching +Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:494550 Squamous cell carcinoma of the larynx oboInOwl:hasDbXref UMLS:C0280324 semapv:UnspecifiedMatching +Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching +Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1851480 semapv:UnspecifiedMatching +Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching +Orphanet:495274 Charcot-Marie-Tooth disease type 2T oboInOwl:hasDbXref UMLS:C4015635 semapv:UnspecifiedMatching +Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref ICD10:D65 semapv:UnspecifiedMatching +Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref MedDRA:10037556 semapv:UnspecifiedMatching +Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref UMLS:C4510896 semapv:UnspecifiedMatching +Orphanet:49566 Acquired purpura fulminans oboInOwl:hasDbXref icd11:3B20 semapv:UnspecifiedMatching +Orphanet:495818 9q33.3q34.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:495818 9q33.3q34.11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:495818 9q33.3q34.11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5680085 semapv:UnspecifiedMatching +Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:616881 semapv:UnspecifiedMatching +Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C5567456 semapv:UnspecifiedMatching +Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5567455 semapv:UnspecifiedMatching +Orphanet:495879 Congenital agenesis of the scrotum oboInOwl:hasDbXref ICD10:Q55.2 semapv:UnspecifiedMatching +Orphanet:495879 Congenital agenesis of the scrotum oboInOwl:hasDbXref UMLS:C1387020 semapv:UnspecifiedMatching +Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:252270 semapv:UnspecifiedMatching +Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:619041 semapv:UnspecifiedMatching +Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref UMLS:C5681220 semapv:UnspecifiedMatching +Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching +Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617193 semapv:UnspecifiedMatching +Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome oboInOwl:hasDbXref UMLS:C5567454 semapv:UnspecifiedMatching +Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref OMIM:617114 semapv:UnspecifiedMatching +Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome oboInOwl:hasDbXref UMLS:C5567453 semapv:UnspecifiedMatching +Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome oboInOwl:hasDbXref UMLS:C5567452 semapv:UnspecifiedMatching +Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref MESH:C563701 semapv:UnspecifiedMatching +Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref OMIM:609545 semapv:UnspecifiedMatching +Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome oboInOwl:hasDbXref UMLS:C1836007 semapv:UnspecifiedMatching +Orphanet:496751 EVEN-plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:496751 EVEN-plus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:496751 EVEN-plus syndrome oboInOwl:hasDbXref OMIM:616854 semapv:UnspecifiedMatching +Orphanet:496751 EVEN-plus syndrome oboInOwl:hasDbXref UMLS:C4225180 semapv:UnspecifiedMatching +Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref OMIM:617207 semapv:UnspecifiedMatching +Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome oboInOwl:hasDbXref UMLS:C5567451 semapv:UnspecifiedMatching +Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref OMIM:617183 semapv:UnspecifiedMatching +Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4310677 semapv:UnspecifiedMatching +Orphanet:496916 Rare genetic hyperkinetic movement disorder oboInOwl:hasDbXref UMLS:C5681226 semapv:UnspecifiedMatching +Orphanet:496924 Non-inflammatory vasculopathy oboInOwl:hasDbXref UMLS:C5681227 semapv:UnspecifiedMatching +Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref ICD10:C72.8 semapv:UnspecifiedMatching +Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref MESH:D000080443 semapv:UnspecifiedMatching +Orphanet:497188 Diffuse intrinsic pontine glioma oboInOwl:hasDbXref UMLS:C2986658 semapv:UnspecifiedMatching +Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect oboInOwl:hasDbXref UMLS:C5680089 semapv:UnspecifiedMatching +Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:497737 Epidermolytic nevus oboInOwl:hasDbXref UMLS:C1302848 semapv:UnspecifiedMatching +Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching +Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 oboInOwl:hasDbXref UMLS:C5567450 semapv:UnspecifiedMatching +Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching +Orphanet:497764 Spinocerebellar ataxia type 43 oboInOwl:hasDbXref UMLS:C4310763 semapv:UnspecifiedMatching +Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref OMIM:617054 semapv:UnspecifiedMatching +Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref UMLS:C4310743 semapv:UnspecifiedMatching +Orphanet:498 Keratosis pilaris atrophicans oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching +Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching +Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref ICD10:C61 semapv:UnspecifiedMatching +Orphanet:498228 Phyllodes tumor of the prostate oboInOwl:hasDbXref UMLS:C1335409 semapv:UnspecifiedMatching +Orphanet:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref ICD10:N94.8 semapv:UnspecifiedMatching +Orphanet:498251 Menstrual cycle-dependent periodic fever oboInOwl:hasDbXref UMLS:C3553418 semapv:UnspecifiedMatching +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ICD10:D53.1 semapv:UnspecifiedMatching +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 semapv:UnspecifiedMatching +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 semapv:UnspecifiedMatching +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C0342287 semapv:UnspecifiedMatching +Orphanet:498345 Biliary atresia and associated disorders oboInOwl:hasDbXref UMLS:C5681238 semapv:UnspecifiedMatching +Orphanet:498350 Syndromic biliary atresia oboInOwl:hasDbXref UMLS:C5681237 semapv:UnspecifiedMatching +Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L85.1 semapv:UnspecifiedMatching +Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref ICD10:L85.1 semapv:UnspecifiedMatching +Orphanet:498359 Aquagenic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C4087301 semapv:UnspecifiedMatching +Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy oboInOwl:hasDbXref UMLS:C5681235 semapv:UnspecifiedMatching +Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement oboInOwl:hasDbXref UMLS:C5681234 semapv:UnspecifiedMatching +Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations oboInOwl:hasDbXref UMLS:C5681233 semapv:UnspecifiedMatching +Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations oboInOwl:hasDbXref UMLS:C5681833 semapv:UnspecifiedMatching +Orphanet:498457 Longitudinal limb defect oboInOwl:hasDbXref UMLS:C5681232 semapv:UnspecifiedMatching +Orphanet:498461 Terminal transverse limb defect oboInOwl:hasDbXref UMLS:C5681231 semapv:UnspecifiedMatching +Orphanet:498464 Non-syndromic preaxial polydactyly oboInOwl:hasDbXref UMLS:C5681229 semapv:UnspecifiedMatching +Orphanet:498467 Non-syndromic postaxial polydactyly oboInOwl:hasDbXref UMLS:C5681228 semapv:UnspecifiedMatching +Orphanet:498470 Non-syndromic complex polydactyly oboInOwl:hasDbXref UMLS:C5681241 semapv:UnspecifiedMatching +Orphanet:498474 Hyaline fibromatosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:498474 Hyaline fibromatosis syndrome oboInOwl:hasDbXref UMLS:C5574677 semapv:UnspecifiedMatching +Orphanet:498477 Ectrodactyly with and without other manifestations oboInOwl:hasDbXref UMLS:C5681242 semapv:UnspecifiedMatching +Orphanet:498481 LRP5-related primary osteoporosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:498481 LRP5-related primary osteoporosis oboInOwl:hasDbXref UMLS:C5567241 semapv:UnspecifiedMatching +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref MESH:C537355 semapv:UnspecifiedMatching +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref OMIM:608811 semapv:UnspecifiedMatching +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome oboInOwl:hasDbXref UMLS:C1837316 semapv:UnspecifiedMatching +Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref UMLS:C5567236 semapv:UnspecifiedMatching +Orphanet:498491 Complete hemimelia oboInOwl:hasDbXref UMLS:C5681243 semapv:UnspecifiedMatching +Orphanet:498494 Mirror-image polydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching +Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref UMLS:C5681240 semapv:UnspecifiedMatching +Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref OMIM:272150 semapv:UnspecifiedMatching +Orphanet:498602 Sugarman brachydactyly oboInOwl:hasDbXref UMLS:C5399870 semapv:UnspecifiedMatching +Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching +Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome oboInOwl:hasDbXref UMLS:C5680092 semapv:UnspecifiedMatching +Orphanet:499 Kerion celsi oboInOwl:hasDbXref ICD10:B35.0 semapv:UnspecifiedMatching +Orphanet:499 Kerion celsi oboInOwl:hasDbXref UMLS:C0276742 semapv:UnspecifiedMatching +Orphanet:499 Kerion celsi oboInOwl:hasDbXref icd11:1F28.4 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.0 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.0 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.1 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.1 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.2 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.2 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.3 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.3 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.4 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.4 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.5 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref ICD10:A50.6 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref MESH:D013590 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref MedDRA:10010641 semapv:UnspecifiedMatching +Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref UMLS:C0039131 semapv:UnspecifiedMatching +Orphanet:499047 Autoimmune/inflammatory optic neuropathy oboInOwl:hasDbXref UMLS:C5681239 semapv:UnspecifiedMatching +Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref UMLS:C5567234 semapv:UnspecifiedMatching +Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref MedDRA:10030942 semapv:UnspecifiedMatching +Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref UMLS:C0022023 semapv:UnspecifiedMatching +Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499103 Recurrent idiopathic neuroretinitis oboInOwl:hasDbXref UMLS:C5680094 semapv:UnspecifiedMatching +Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref ICD10:H05.0 semapv:UnspecifiedMatching +Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref ICD10:H05.0 semapv:UnspecifiedMatching +Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref UMLS:C5680093 semapv:UnspecifiedMatching +Orphanet:499107 Idiopathic optic perineuritis oboInOwl:hasDbXref icd11:9C40.3 semapv:UnspecifiedMatching +Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching +Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref ICD10:C44.4 semapv:UnspecifiedMatching +Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref MedDRA:10075614 semapv:UnspecifiedMatching +Orphanet:499182 Pilomatrix carcinoma oboInOwl:hasDbXref UMLS:C0585475 semapv:UnspecifiedMatching +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609016 semapv:UnspecifiedMatching +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3711645 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref MedDRA:10054935 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref UMLS:C0175713 semapv:UnspecifiedMatching +Orphanet:50 Aicardi syndrome oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:D044542 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MedDRA:10062901 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:151100 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:611554 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIM:613707 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref UMLS:C0175704 semapv:UnspecifiedMatching +Orphanet:500 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching +Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref OMIM:617099 semapv:UnspecifiedMatching +Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome oboInOwl:hasDbXref UMLS:C4310614 semapv:UnspecifiedMatching +Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617107 semapv:UnspecifiedMatching +Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome oboInOwl:hasDbXref UMLS:C4310715 semapv:UnspecifiedMatching +Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref OMIM:236500 semapv:UnspecifiedMatching +Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome oboInOwl:hasDbXref UMLS:C1856053 semapv:UnspecifiedMatching +Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome oboInOwl:hasDbXref OMIM:617669 semapv:UnspecifiedMatching +Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome oboInOwl:hasDbXref UMLS:C5567229 semapv:UnspecifiedMatching +Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10081208 semapv:UnspecifiedMatching +Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617140 semapv:UnspecifiedMatching +Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4310696 semapv:UnspecifiedMatching +Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom oboInOwl:hasDbXref OMIM:617751 semapv:UnspecifiedMatching +Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom oboInOwl:hasDbXref UMLS:C4540321 semapv:UnspecifiedMatching +Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching +Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref UMLS:C4310804 semapv:UnspecifiedMatching +Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching +Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5681223 semapv:UnspecifiedMatching +Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref OMIM:617672 semapv:UnspecifiedMatching +Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref UMLS:C5567227 semapv:UnspecifiedMatching +Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching +Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching +Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:301018 semapv:UnspecifiedMatching +Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5567226 semapv:UnspecifiedMatching +Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref ICD10:D02.3 semapv:UnspecifiedMatching +Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref ICD10:D02.3 semapv:UnspecifiedMatching +Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses oboInOwl:hasDbXref UMLS:C0280332 semapv:UnspecifiedMatching +Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref ICD10:C10.8 semapv:UnspecifiedMatching +Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref ICD10:C10.8 semapv:UnspecifiedMatching +Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref MedDRA:10031112 semapv:UnspecifiedMatching +Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref UMLS:C0280313 semapv:UnspecifiedMatching +Orphanet:500478 Squamous cell carcinoma of the oropharynx oboInOwl:hasDbXref icd11:2B6A.0 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C07 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref MESH:C567020 semapv:UnspecifiedMatching +Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref OMIM:611087 semapv:UnspecifiedMatching +Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome oboInOwl:hasDbXref UMLS:C1970203 semapv:UnspecifiedMatching +Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref OMIM:617393 semapv:UnspecifiedMatching +Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract oboInOwl:hasDbXref UMLS:C5568106 semapv:UnspecifiedMatching +Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref OMIM:615198 semapv:UnspecifiedMatching +Orphanet:500548 Osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C3554665 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref MedDRA:10054030 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref OMIM:254780 semapv:UnspecifiedMatching +Orphanet:501 Lafora disease oboInOwl:hasDbXref UMLS:C0751783 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref MedDRA:10050638 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref OMIM:150230 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref UMLS:C0023003 semapv:UnspecifiedMatching +Orphanet:502 Trichorhinophalangeal syndrome type 2 oboInOwl:hasDbXref icd11:LD24.80 semapv:UnspecifiedMatching +Orphanet:502305 Cochleovestibular malformation oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching +Orphanet:502305 Cochleovestibular malformation oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching +Orphanet:502305 Cochleovestibular malformation oboInOwl:hasDbXref UMLS:C5681225 semapv:UnspecifiedMatching +Orphanet:502318 Cochlear nerve deficiency oboInOwl:hasDbXref ICD10:H93.3 semapv:UnspecifiedMatching +Orphanet:502318 Cochlear nerve deficiency oboInOwl:hasDbXref UMLS:C5568535 semapv:UnspecifiedMatching +Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching +Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref MedDRA:10041857 semapv:UnspecifiedMatching +Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref UMLS:C0585362 semapv:UnspecifiedMatching +Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 semapv:UnspecifiedMatching +Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref UMLS:C0280302 semapv:UnspecifiedMatching +Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref icd11:2B60.1 semapv:UnspecifiedMatching +Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref OMIM:617675 semapv:UnspecifiedMatching +Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref UMLS:C4540096 semapv:UnspecifiedMatching +Orphanet:502430 Weiss-Kruszka Syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:502430 Weiss-Kruszka Syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:502430 Weiss-Kruszka Syndrome oboInOwl:hasDbXref OMIM:618619 semapv:UnspecifiedMatching +Orphanet:502430 Weiss-Kruszka Syndrome oboInOwl:hasDbXref UMLS:C5568107 semapv:UnspecifiedMatching +Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome oboInOwl:hasDbXref OMIM:617635 semapv:UnspecifiedMatching +Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome oboInOwl:hasDbXref UMLS:C5568769 semapv:UnspecifiedMatching +Orphanet:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:502437 4q25 proximal deletion syndrome oboInOwl:hasDbXref UMLS:C5680087 semapv:UnspecifiedMatching +Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref OMIM:617762 semapv:UnspecifiedMatching +Orphanet:502444 Alkaline ceramidase 3 deficiency oboInOwl:hasDbXref UMLS:C4540358 semapv:UnspecifiedMatching +Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref ICD10:L51.8 semapv:UnspecifiedMatching +Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref ICD10:L51.8 semapv:UnspecifiedMatching +Orphanet:502499 Erythema multiforme major oboInOwl:hasDbXref UMLS:C3241919 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref ICD10:C45.0 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref MESH:D008654 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref MedDRA:10059518 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref OMIM:156240 semapv:UnspecifiedMatching +Orphanet:50251 Pleural mesothelioma oboInOwl:hasDbXref UMLS:C1377913 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref MESH:C580241 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref MedDRA:10073856 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref OMIM:150250 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref UMLS:C0175778 semapv:UnspecifiedMatching +Orphanet:503 Larsen syndrome oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:504 Creeping myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:504 Creeping myiasis oboInOwl:hasDbXref MESH:D007815 semapv:UnspecifiedMatching +Orphanet:504 Creeping myiasis oboInOwl:hasDbXref MedDRA:10059547 semapv:UnspecifiedMatching +Orphanet:504 Creeping myiasis oboInOwl:hasDbXref UMLS:C1562462 semapv:UnspecifiedMatching +Orphanet:504 Creeping myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref MedDRA:10078216 semapv:UnspecifiedMatching +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref OMIM:614575 semapv:UnspecifiedMatching +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref UMLS:C3281223 semapv:UnspecifiedMatching +Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref ICD10:D81.2 semapv:UnspecifiedMatching +Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref OMIM:617514 semapv:UnspecifiedMatching +Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref UMLS:C4479588 semapv:UnspecifiedMatching +Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref OMIM:300988 semapv:UnspecifiedMatching +Orphanet:504530 Combined immunodeficiency due to Moesin deficiency oboInOwl:hasDbXref UMLS:C5568123 semapv:UnspecifiedMatching +Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching +Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching +Orphanet:505 Graham Little-Piccardi-Lassueur syndrome oboInOwl:hasDbXref UMLS:C4273658 semapv:UnspecifiedMatching +Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching +Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref UMLS:C5680084 semapv:UnspecifiedMatching +Orphanet:505208 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching +Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref UMLS:C4540171 semapv:UnspecifiedMatching +Orphanet:505216 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref OMIM:617827 semapv:UnspecifiedMatching +Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency oboInOwl:hasDbXref UMLS:C5568132 semapv:UnspecifiedMatching +Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref OMIM:617452 semapv:UnspecifiedMatching +Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5568770 semapv:UnspecifiedMatching +Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching +Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref OMIM:617595 semapv:UnspecifiedMatching +Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome oboInOwl:hasDbXref UMLS:C5568771 semapv:UnspecifiedMatching +Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref OMIM:617303 semapv:UnspecifiedMatching +Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders oboInOwl:hasDbXref UMLS:C5568800 semapv:UnspecifiedMatching +Orphanet:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref ICD10:J95.8 semapv:UnspecifiedMatching +Orphanet:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref ICD10:J95.8 semapv:UnspecifiedMatching +Orphanet:505395 Ventilator-induced diaphragmatic dysfunction oboInOwl:hasDbXref UMLS:C5680083 semapv:UnspecifiedMatching +Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref MESH:C564064 semapv:UnspecifiedMatching +Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref MedDRA:10083005 semapv:UnspecifiedMatching +Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching +Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref UMLS:C4750718 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref MedDRA:10062950 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref UMLS:C0023264 semapv:UnspecifiedMatching +Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref MESH:C536126 semapv:UnspecifiedMatching +Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref UMLS:C1334977 semapv:UnspecifiedMatching +Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506098 Neuroendocrine carcinoma of pancreas oboInOwl:hasDbXref UMLS:C2205506 semapv:UnspecifiedMatching +Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref UMLS:C5568577 semapv:UnspecifiedMatching +Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching +Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching +Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref UMLS:C1333462 semapv:UnspecifiedMatching +Orphanet:506207 Rare disorder potentially indicated for transplant oboInOwl:hasDbXref UMLS:C5681217 semapv:UnspecifiedMatching +Orphanet:506210 Rare disorder potentially indicated for liver transplant oboInOwl:hasDbXref UMLS:C5681218 semapv:UnspecifiedMatching +Orphanet:506213 Rare disorder potentially indicated for kidney transplant oboInOwl:hasDbXref UMLS:C5681219 semapv:UnspecifiedMatching +Orphanet:506216 Rare disorder potentially indicated for bowel transplant oboInOwl:hasDbXref UMLS:C5681213 semapv:UnspecifiedMatching +Orphanet:506219 Rare disorder potentially indicated for hematopoietic stem cell transplant oboInOwl:hasDbXref UMLS:C5681214 semapv:UnspecifiedMatching +Orphanet:506222 Rare disorder potentially indicated for lung transplant oboInOwl:hasDbXref UMLS:C5681215 semapv:UnspecifiedMatching +Orphanet:506225 Rare disorder potentially indicated for heart transplant oboInOwl:hasDbXref UMLS:C5681216 semapv:UnspecifiedMatching +Orphanet:506307 Stromme syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:506307 Stromme syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:506307 Stromme syndrome oboInOwl:hasDbXref MESH:C565460 semapv:UnspecifiedMatching +Orphanet:506307 Stromme syndrome oboInOwl:hasDbXref OMIM:243605 semapv:UnspecifiedMatching +Orphanet:506307 Stromme syndrome oboInOwl:hasDbXref UMLS:C1855705 semapv:UnspecifiedMatching +Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref OMIM:617575 semapv:UnspecifiedMatching +Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency oboInOwl:hasDbXref UMLS:C5568768 semapv:UnspecifiedMatching +Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref OMIM:618768 semapv:UnspecifiedMatching +Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction oboInOwl:hasDbXref UMLS:C5568576 semapv:UnspecifiedMatching +Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref OMIM:617557 semapv:UnspecifiedMatching +Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref UMLS:C4479652 semapv:UnspecifiedMatching +Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.1 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.2 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.9 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.9 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref MESH:D007896 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref MedDRA:10024198 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:UnspecifiedMatching +Orphanet:507 Leishmaniasis oboInOwl:hasDbXref UMLS:C0023281 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref MESH:D056731 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref MedDRA:10081896 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref OMIM:246200 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref UMLS:C0265344 semapv:UnspecifiedMatching +Orphanet:508 Leprechaunism oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref OMIM:609655 semapv:UnspecifiedMatching +Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref UMLS:C4509954 semapv:UnspecifiedMatching +Orphanet:50809 Talo-patello-scaphoid osteolysis oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:508093 MEPAN syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:508093 MEPAN syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:508093 MEPAN syndrome oboInOwl:hasDbXref OMIM:617282 semapv:UnspecifiedMatching +Orphanet:508093 MEPAN syndrome oboInOwl:hasDbXref UMLS:C4310634 semapv:UnspecifiedMatching +Orphanet:50810 Microlissencephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:50810 Microlissencephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:50810 Microlissencephaly-micromelia syndrome oboInOwl:hasDbXref UMLS:C4509878 semapv:UnspecifiedMatching +Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref OMIM:608154 semapv:UnspecifiedMatching +Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome oboInOwl:hasDbXref UMLS:C4302920 semapv:UnspecifiedMatching +Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref UMLS:C4305104 semapv:UnspecifiedMatching +Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref MESH:C564332 semapv:UnspecifiedMatching +Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref OMIM:607812 semapv:UnspecifiedMatching +Orphanet:50814 Craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS:C1843042 semapv:UnspecifiedMatching +Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref MESH:C563780 semapv:UnspecifiedMatching +Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref OMIM:609166 semapv:UnspecifiedMatching +Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref UMLS:C1836673 semapv:UnspecifiedMatching +Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref OMIM:607944 semapv:UnspecifiedMatching +Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref UMLS:C1842763 semapv:UnspecifiedMatching +Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref UMLS:C4302550 semapv:UnspecifiedMatching +Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome oboInOwl:hasDbXref ICD10:G56.0 semapv:UnspecifiedMatching +Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome oboInOwl:hasDbXref ICD10:G56.0 semapv:UnspecifiedMatching +Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref ICD10:A28.1 semapv:UnspecifiedMatching +Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref ICD10:A28.1 semapv:UnspecifiedMatching +Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref MESH:D002372 semapv:UnspecifiedMatching +Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref MedDRA:10007729 semapv:UnspecifiedMatching +Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref UMLS:C0007361 semapv:UnspecifiedMatching +Orphanet:50839 Cat-scratch disease oboInOwl:hasDbXref icd11:1B98 semapv:UnspecifiedMatching +Orphanet:508410 Familial intestinal malrotation oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching +Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome oboInOwl:hasDbXref UMLS:C5568767 semapv:UnspecifiedMatching +Orphanet:508488 8q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:508488 8q24.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:508488 8q24.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:615583 semapv:UnspecifiedMatching +Orphanet:508488 8q24.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C3810023 semapv:UnspecifiedMatching +Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome oboInOwl:hasDbXref OMIM:615583 semapv:UnspecifiedMatching +Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome oboInOwl:hasDbXref UMLS:C5568572 semapv:UnspecifiedMatching +Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref OMIM:617927 semapv:UnspecifiedMatching +Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref UMLS:C5567903 semapv:UnspecifiedMatching +Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref OMIM:618097 semapv:UnspecifiedMatching +Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref UMLS:C5567901 semapv:UnspecifiedMatching +Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref OMIM:617384 semapv:UnspecifiedMatching +Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref UMLS:C5567900 semapv:UnspecifiedMatching +Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref OMIM:617294 semapv:UnspecifiedMatching +Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy oboInOwl:hasDbXref UMLS:C5555869 semapv:UnspecifiedMatching +Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome oboInOwl:hasDbXref OMIM:617425 semapv:UnspecifiedMatching +Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5567899 semapv:UnspecifiedMatching +Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref OMIM:618116 semapv:UnspecifiedMatching +Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome oboInOwl:hasDbXref UMLS:C5567897 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.0 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.8 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.8 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.9 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref ICD10:A27.9 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref MESH:D007922 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref MedDRA:10024238 semapv:UnspecifiedMatching +Orphanet:509 Leptospirosis oboInOwl:hasDbXref UMLS:C0023364 semapv:UnspecifiedMatching +Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching +Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching +Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref MESH:D020042 semapv:UnspecifiedMatching +Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref UMLS:C0398367 semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:607654 semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref OMIM:612908 semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C4707237 semapv:UnspecifiedMatching +Orphanet:50942 Striate palmoplantar keratoderma oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching +Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching +Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref MESH:C536155 semapv:UnspecifiedMatching +Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref OMIM:148370 semapv:UnspecifiedMatching +Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref UMLS:C0406756 semapv:UnspecifiedMatching +Orphanet:50943 Keratolytic winter erythema oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref MESH:C565607 semapv:UnspecifiedMatching +Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 semapv:UnspecifiedMatching +Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS:C1857069 semapv:UnspecifiedMatching +Orphanet:50944 Schöpf-Schulz-Passarge syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref MESH:C537914 semapv:UnspecifiedMatching +Orphanet:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref OMIM:215045 semapv:UnspecifiedMatching +Orphanet:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref UMLS:C1859148 semapv:UnspecifiedMatching +Orphanet:50945 Blomstrand lethal chondrodysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref MESH:C535607 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref MedDRA:10083189 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:225750 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610181 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610329 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:610333 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:612952 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615010 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:615846 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:619486 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref OMIM:619487 semapv:UnspecifiedMatching +Orphanet:51 Aicardi-Goutières syndrome oboInOwl:hasDbXref UMLS:C0393591 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10:E79.1 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10:E79.1 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref MedDRA:10057589 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:300322 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:308950 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS:C0023374 semapv:UnspecifiedMatching +Orphanet:510 Lesch-Nyhan syndrome oboInOwl:hasDbXref icd11:5C55.01 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609620 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609621 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:609622 semapv:UnspecifiedMatching +Orphanet:51083 Familial short QT syndrome oboInOwl:hasDbXref OMIM:620231 semapv:UnspecifiedMatching +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref OMIM:613600 semapv:UnspecifiedMatching +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval oboInOwl:hasDbXref UMLS:C3150851 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref ICD10:E71.0 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref MedDRA:10026817 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref UMLS:C0024776 semapv:UnspecifiedMatching +Orphanet:511 Maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching +Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref MESH:C535737 semapv:UnspecifiedMatching +Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref OMIM:602473 semapv:UnspecifiedMatching +Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS:C1865349 semapv:UnspecifiedMatching +Orphanet:51188 Ethylmalonic encephalopathy oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref MedDRA:10067609 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:156310 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C0023522 semapv:UnspecifiedMatching +Orphanet:512 Metachromatic leukodystrophy oboInOwl:hasDbXref icd11:5C56.02 semapv:UnspecifiedMatching +Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching +Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref UMLS:C1512709 semapv:UnspecifiedMatching +Orphanet:512034 Large granular lymphocyte leukemia oboInOwl:hasDbXref MESH:D054066 semapv:UnspecifiedMatching +Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching +Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching +Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref UMLS:C0268609 semapv:UnspecifiedMatching +Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref icd11:3A02.Y semapv:UnspecifiedMatching +Orphanet:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:512103 Autosomal recessive epidermolytic ichthyosis oboInOwl:hasDbXref UMLS:C5437635 semapv:UnspecifiedMatching +Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref OMIM:620208 semapv:UnspecifiedMatching +Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation oboInOwl:hasDbXref UMLS:C5567894 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref MESH:D054198 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:247640 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:613065 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:613067 semapv:UnspecifiedMatching +Orphanet:513 Acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1961102 semapv:UnspecifiedMatching +Orphanet:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref OMIM:617225 semapv:UnspecifiedMatching +Orphanet:513436 Autosomal recessive spastic paraplegia type 78 oboInOwl:hasDbXref UMLS:C5567893 semapv:UnspecifiedMatching +Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617616 semapv:UnspecifiedMatching +Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4539927 semapv:UnspecifiedMatching +Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching +Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching +Orphanet:514 Acute monoblastic/monocytic leukemia oboInOwl:hasDbXref UMLS:C3831784 semapv:UnspecifiedMatching +Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome oboInOwl:hasDbXref UMLS:C5680208 semapv:UnspecifiedMatching +Orphanet:514980 ATP13A2-related parkinsonism oboInOwl:hasDbXref UMLS:C5681397 semapv:UnspecifiedMatching +Orphanet:51577 Cobblestone lissencephaly oboInOwl:hasDbXref MESH:D054222 semapv:UnspecifiedMatching +Orphanet:51577 Cobblestone lissencephaly oboInOwl:hasDbXref UMLS:C0431376 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref UMLS:C1859727 semapv:UnspecifiedMatching +Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching +Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching +Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching +Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching +Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015479 semapv:UnspecifiedMatching +Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10000890 semapv:UnspecifiedMatching +Orphanet:517 Acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023479 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref MESH:D007947 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref MedDRA:10000860 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref UMLS:C0023462 semapv:UnspecifiedMatching +Orphanet:518 Acute megakaryoblastic leukemia oboInOwl:hasDbXref icd11:XH4750 semapv:UnspecifiedMatching +Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G58.0 semapv:UnspecifiedMatching +Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G58.0 semapv:UnspecifiedMatching +Orphanet:51890 Anterior cutaneous nerve entrapment syndrome oboInOwl:hasDbXref UMLS:C0393899 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref MedDRA:10000880 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:519 Acute myeloid leukemia oboInOwl:hasDbXref UMLS:C0023467 semapv:UnspecifiedMatching +Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system oboInOwl:hasDbXref UMLS:C5681386 semapv:UnspecifiedMatching +Orphanet:519266 Rare disorder of the ocular adnexa oboInOwl:hasDbXref UMLS:C5681387 semapv:UnspecifiedMatching +Orphanet:519268 Rare disorder with ectropion oboInOwl:hasDbXref UMLS:C5681384 semapv:UnspecifiedMatching +Orphanet:519270 Rare disorder with entropion oboInOwl:hasDbXref UMLS:C5681385 semapv:UnspecifiedMatching +Orphanet:519272 Structural developmental eye defect oboInOwl:hasDbXref UMLS:C5681382 semapv:UnspecifiedMatching +Orphanet:519274 Syndromic lacrimal system disorder oboInOwl:hasDbXref UMLS:C5681383 semapv:UnspecifiedMatching +Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations oboInOwl:hasDbXref UMLS:C5681394 semapv:UnspecifiedMatching +Orphanet:519278 Infective keratitis oboInOwl:hasDbXref MedDRA:10076672 semapv:UnspecifiedMatching +Orphanet:519280 Rare conjunctivitis oboInOwl:hasDbXref UMLS:C5681392 semapv:UnspecifiedMatching +Orphanet:519282 Rare corneal disorder oboInOwl:hasDbXref UMLS:C5681393 semapv:UnspecifiedMatching +Orphanet:519284 Rare disorder of the anterior segment of the eye oboInOwl:hasDbXref UMLS:C5681390 semapv:UnspecifiedMatching +Orphanet:519286 Rare disorder of the pupil oboInOwl:hasDbXref UMLS:C5681391 semapv:UnspecifiedMatching +Orphanet:519288 Rare disorder with corneal involvement as a major feature oboInOwl:hasDbXref UMLS:C5681388 semapv:UnspecifiedMatching +Orphanet:519290 Rare inflammatory/autoimmune corneal disorder oboInOwl:hasDbXref UMLS:C5681389 semapv:UnspecifiedMatching +Orphanet:519292 Syndromic ectopia lentis oboInOwl:hasDbXref UMLS:C5681372 semapv:UnspecifiedMatching +Orphanet:519294 Syndromic microspherophakia oboInOwl:hasDbXref UMLS:C5681371 semapv:UnspecifiedMatching +Orphanet:519296 Rare disorder with pigmented sclera oboInOwl:hasDbXref UMLS:C5681370 semapv:UnspecifiedMatching +Orphanet:519298 Rare scleral disorder oboInOwl:hasDbXref UMLS:C5681369 semapv:UnspecifiedMatching +Orphanet:519300 Isolated chorioretinal dystrophy oboInOwl:hasDbXref UMLS:C5681368 semapv:UnspecifiedMatching +Orphanet:519302 Isolated macular dystrophy oboInOwl:hasDbXref UMLS:C5681367 semapv:UnspecifiedMatching +Orphanet:519304 Isolated vitreoretinopathy oboInOwl:hasDbXref UMLS:C5681366 semapv:UnspecifiedMatching +Orphanet:519306 Isolated progressive inherited retinal disorder oboInOwl:hasDbXref UMLS:C5681364 semapv:UnspecifiedMatching +Orphanet:519309 Rare choroidal disorder oboInOwl:hasDbXref UMLS:C5681381 semapv:UnspecifiedMatching +Orphanet:519311 Rare disorder of the posterior segment of the eye oboInOwl:hasDbXref UMLS:C5681380 semapv:UnspecifiedMatching +Orphanet:519313 Rare macular disorder oboInOwl:hasDbXref UMLS:C5681379 semapv:UnspecifiedMatching +Orphanet:519315 Rare retinal disorder oboInOwl:hasDbXref UMLS:C5681377 semapv:UnspecifiedMatching +Orphanet:519317 Rare retinal vasculopathy oboInOwl:hasDbXref UMLS:C5681376 semapv:UnspecifiedMatching +Orphanet:519319 Isolated stationary inherited retinal disorder oboInOwl:hasDbXref UMLS:C5681375 semapv:UnspecifiedMatching +Orphanet:519321 Syndromic chorioretinal dystrophy oboInOwl:hasDbXref UMLS:C5681374 semapv:UnspecifiedMatching +Orphanet:519323 Syndromic macular dystrophy oboInOwl:hasDbXref UMLS:C5681373 semapv:UnspecifiedMatching +Orphanet:519325 Syndromic inherited retinal disorder oboInOwl:hasDbXref UMLS:C5680175 semapv:UnspecifiedMatching +Orphanet:519327 Syndromic vitreoretinopathy oboInOwl:hasDbXref UMLS:C5681351 semapv:UnspecifiedMatching +Orphanet:519329 Rare disorder involving multiple structures of the eye oboInOwl:hasDbXref UMLS:C5681352 semapv:UnspecifiedMatching +Orphanet:519331 Secondary early-onset glaucoma oboInOwl:hasDbXref UMLS:C5681353 semapv:UnspecifiedMatching +Orphanet:519333 Congenital optic disc excavation oboInOwl:hasDbXref UMLS:C5681348 semapv:UnspecifiedMatching +Orphanet:519339 Pseudopapilledema oboInOwl:hasDbXref MESH:C562401 semapv:UnspecifiedMatching +Orphanet:519339 Pseudopapilledema oboInOwl:hasDbXref MedDRA:10037141 semapv:UnspecifiedMatching +Orphanet:519339 Pseudopapilledema oboInOwl:hasDbXref UMLS:C0155300 semapv:UnspecifiedMatching +Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature oboInOwl:hasDbXref UMLS:C5681359 semapv:UnspecifiedMatching +Orphanet:519343 Rare ophthalmic disorder with cortical involvement oboInOwl:hasDbXref UMLS:C5681360 semapv:UnspecifiedMatching +Orphanet:519345 Rare disorder with optic disc malformation oboInOwl:hasDbXref UMLS:C5681361 semapv:UnspecifiedMatching +Orphanet:519347 Rare neuromuscular disorder with ocular motility/alignment anomaly oboInOwl:hasDbXref UMLS:C5681363 semapv:UnspecifiedMatching +Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement oboInOwl:hasDbXref UMLS:C5681354 semapv:UnspecifiedMatching +Orphanet:519351 Rare optic nerve disorder oboInOwl:hasDbXref UMLS:C5681355 semapv:UnspecifiedMatching +Orphanet:519353 Rare trochlear nerve disorder oboInOwl:hasDbXref UMLS:C5681356 semapv:UnspecifiedMatching +Orphanet:519355 Rare ocular motility/alignment disorder oboInOwl:hasDbXref UMLS:C5681357 semapv:UnspecifiedMatching +Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref ICD10:Q11.0 semapv:UnspecifiedMatching +Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref UMLS:C5680174 semapv:UnspecifiedMatching +Orphanet:519384 Congenital cystic eye oboInOwl:hasDbXref icd11:LA10.Y semapv:UnspecifiedMatching +Orphanet:519386 Isolated congenital entropion oboInOwl:hasDbXref ICD10:Q10.2 semapv:UnspecifiedMatching +Orphanet:519386 Isolated congenital entropion oboInOwl:hasDbXref UMLS:C5681344 semapv:UnspecifiedMatching +Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching +Orphanet:519388 Autosomal recessive anterior segment dysgenesis oboInOwl:hasDbXref UMLS:C4310622 semapv:UnspecifiedMatching +Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref ICD10:H02.3 semapv:UnspecifiedMatching +Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref ICD10:H02.3 semapv:UnspecifiedMatching +Orphanet:519390 Isolated blepharochalasis oboInOwl:hasDbXref UMLS:C5681341 semapv:UnspecifiedMatching +Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:519392 Isolated iridoschisis oboInOwl:hasDbXref UMLS:C5681340 semapv:UnspecifiedMatching +Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref ICD10:Q12.4 semapv:UnspecifiedMatching +Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref UMLS:C5681342 semapv:UnspecifiedMatching +Orphanet:519396 Isolated microspherophakia oboInOwl:hasDbXref icd11:LA12.3 semapv:UnspecifiedMatching +Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref MESH:C565005 semapv:UnspecifiedMatching +Orphanet:519398 Isolated foveal hypoplasia oboInOwl:hasDbXref UMLS:C1850993 semapv:UnspecifiedMatching +Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref UMLS:C5681346 semapv:UnspecifiedMatching +Orphanet:519400 Peripapillary staphyloma oboInOwl:hasDbXref icd11:LA13.7Y semapv:UnspecifiedMatching +Orphanet:519402 Isolated megalopapilla oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:519402 Isolated megalopapilla oboInOwl:hasDbXref UMLS:C5681347 semapv:UnspecifiedMatching +Orphanet:519404 Optic disc pit oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:519404 Optic disc pit oboInOwl:hasDbXref MedDRA:10079967 semapv:UnspecifiedMatching +Orphanet:519404 Optic disc pit oboInOwl:hasDbXref UMLS:C0338504 semapv:UnspecifiedMatching +Orphanet:519404 Optic disc pit oboInOwl:hasDbXref icd11:LA13.7Y semapv:UnspecifiedMatching +Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref ICD10:H16.1 semapv:UnspecifiedMatching +Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref ICD10:H16.1 semapv:UnspecifiedMatching +Orphanet:519406 Thygeson superficial punctate keratitis oboInOwl:hasDbXref UMLS:C4551636 semapv:UnspecifiedMatching +Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref ICD10:H16.0 semapv:UnspecifiedMatching +Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref ICD10:H16.0 semapv:UnspecifiedMatching +Orphanet:519408 Mooren ulcer oboInOwl:hasDbXref UMLS:C0155072 semapv:UnspecifiedMatching +Orphanet:519410 Terrien marginal degeneration oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching +Orphanet:519410 Terrien marginal degeneration oboInOwl:hasDbXref UMLS:C0271283 semapv:UnspecifiedMatching +Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref MedDRA:10062353 semapv:UnspecifiedMatching +Orphanet:519930 Fungal keratitis oboInOwl:hasDbXref UMLS:C1262117 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref MESH:D016738 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref MedDRA:10053870 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching +Orphanet:52 Alagille syndrome oboInOwl:hasDbXref UMLS:C0085280 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref ICD10:C92.4 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref ICD10:C92.4 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MESH:D015473 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref MedDRA:10001019 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref OMIM:612376 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref UMLS:C0023487 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching +Orphanet:520 Acute promyelocytic leukemia oboInOwl:hasDbXref icd11:XH1A50 semapv:UnspecifiedMatching +Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:UnspecifiedMatching +Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching +Orphanet:52022 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS:C1832588 semapv:UnspecifiedMatching +Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref OMIM:608406 semapv:UnspecifiedMatching +Orphanet:52047 Braddock syndrome oboInOwl:hasDbXref UMLS:C4303988 semapv:UnspecifiedMatching +Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome oboInOwl:hasDbXref OMIM:608432 semapv:UnspecifiedMatching +Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome oboInOwl:hasDbXref UMLS:C4303809 semapv:UnspecifiedMatching +Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref OMIM:300472 semapv:UnspecifiedMatching +Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref UMLS:C4302679 semapv:UnspecifiedMatching +Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref OMIM:608571 semapv:UnspecifiedMatching +Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome oboInOwl:hasDbXref UMLS:C4304397 semapv:UnspecifiedMatching +Orphanet:520814 Rare disorder of the visual organs oboInOwl:hasDbXref UMLS:C5681453 semapv:UnspecifiedMatching +Orphanet:520817 Isolated inherited retinal disorder oboInOwl:hasDbXref UMLS:C5681452 semapv:UnspecifiedMatching +Orphanet:520820 Progressive external ophthalmoplegia oboInOwl:hasDbXref MedDRA:10036802 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.1 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.1 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10009013 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching +Orphanet:521 Chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0023473 semapv:UnspecifiedMatching +Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref UMLS:C5681446 semapv:UnspecifiedMatching +Orphanet:521123 Radiation-induced plexopathy oboInOwl:hasDbXref icd11:8B91.Y semapv:UnspecifiedMatching +Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching +Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref ICD10:K10.2 semapv:UnspecifiedMatching +Orphanet:521127 Osteoradionecrosis of the mandible oboInOwl:hasDbXref UMLS:C1290728 semapv:UnspecifiedMatching +Orphanet:521132 Radiation-induced disorder oboInOwl:hasDbXref UMLS:C1527225 semapv:UnspecifiedMatching +Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching +Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching +Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref MESH:D057792 semapv:UnspecifiedMatching +Orphanet:521219 Mirizzi syndrome oboInOwl:hasDbXref UMLS:C0267878 semapv:UnspecifiedMatching +Orphanet:521232 Genetic primary orthostatic disorder oboInOwl:hasDbXref UMLS:C5681448 semapv:UnspecifiedMatching +Orphanet:521236 Primary orthostatic disorder oboInOwl:hasDbXref UMLS:C5681449 semapv:UnspecifiedMatching +Orphanet:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref OMIM:300979 semapv:UnspecifiedMatching +Orphanet:521258 Xq25 microduplication syndrome oboInOwl:hasDbXref UMLS:C5447842 semapv:UnspecifiedMatching +Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref MESH:C563453 semapv:UnspecifiedMatching +Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref OMIM:600706 semapv:UnspecifiedMatching +Orphanet:521305 Proximal myopathy with focal depletion of mitochondria oboInOwl:hasDbXref UMLS:C1833453 semapv:UnspecifiedMatching +Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome oboInOwl:hasDbXref UMLS:C5567892 semapv:UnspecifiedMatching +Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref OMIM:617296 semapv:UnspecifiedMatching +Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref UMLS:C4284592 semapv:UnspecifiedMatching +Orphanet:521399 NON RARE IN EUROPE: Non rare obesity oboInOwl:hasDbXref ICD10:E66.0 semapv:UnspecifiedMatching +Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching +Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching +Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:617013 semapv:UnspecifiedMatching +Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref UMLS:C4310765 semapv:UnspecifiedMatching +Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect oboInOwl:hasDbXref UMLS:C5569051 semapv:UnspecifiedMatching +Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref OMIM:618036 semapv:UnspecifiedMatching +Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref UMLS:C4747974 semapv:UnspecifiedMatching +Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref OMIM:617527 semapv:UnspecifiedMatching +Orphanet:521426 PLAA-associated neurodevelopmental disorder oboInOwl:hasDbXref UMLS:C4479631 semapv:UnspecifiedMatching +Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5681444 semapv:UnspecifiedMatching +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617660 semapv:UnspecifiedMatching +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref OMIM:617661 semapv:UnspecifiedMatching +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref OMIM:618845 semapv:UnspecifiedMatching +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome oboInOwl:hasDbXref UMLS:C5680183 semapv:UnspecifiedMatching +Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C5681443 semapv:UnspecifiedMatching +Orphanet:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching +Orphanet:521450 LAMA5-related multisystemic syndrome oboInOwl:hasDbXref UMLS:C5681442 semapv:UnspecifiedMatching +Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:522037 Primary autoimmune enteropathy oboInOwl:hasDbXref UMLS:C5681441 semapv:UnspecifiedMatching +Orphanet:522043 Syndromic autoimmune enteropathy oboInOwl:hasDbXref UMLS:C5681440 semapv:UnspecifiedMatching +Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref OMIM:618218 semapv:UnspecifiedMatching +Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4748715 semapv:UnspecifiedMatching +Orphanet:522504 Rare genetic disorder of the visual organs oboInOwl:hasDbXref UMLS:C5681439 semapv:UnspecifiedMatching +Orphanet:522506 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature oboInOwl:hasDbXref UMLS:C5681438 semapv:UnspecifiedMatching +Orphanet:522508 Rare genetic ophthalmic disorder with cortical involvement oboInOwl:hasDbXref UMLS:C5681437 semapv:UnspecifiedMatching +Orphanet:522510 Rare genetic ophthalmic disorder with cranial nerve involvement oboInOwl:hasDbXref UMLS:C5681435 semapv:UnspecifiedMatching +Orphanet:522512 Rare genetic optic nerve disorder oboInOwl:hasDbXref UMLS:C5681436 semapv:UnspecifiedMatching +Orphanet:522514 Congenital optic disc excavation of genetic origin oboInOwl:hasDbXref UMLS:C5681433 semapv:UnspecifiedMatching +Orphanet:522516 Rare genetic ocular motility/alignment disorder oboInOwl:hasDbXref UMLS:C5681434 semapv:UnspecifiedMatching +Orphanet:522518 Rare genetic disorder with strabismus oboInOwl:hasDbXref UMLS:C5681431 semapv:UnspecifiedMatching +Orphanet:522520 Syndromic genetic disorder with strabismus oboInOwl:hasDbXref UMLS:C5681432 semapv:UnspecifiedMatching +Orphanet:522522 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly oboInOwl:hasDbXref UMLS:C5681428 semapv:UnspecifiedMatching +Orphanet:522524 Rare genetic disorder of the ocular adnexa oboInOwl:hasDbXref UMLS:C5681430 semapv:UnspecifiedMatching +Orphanet:522526 Rare genetic palpebral disorder oboInOwl:hasDbXref UMLS:C5681426 semapv:UnspecifiedMatching +Orphanet:522528 Rare genetic eyelid malposition disorder oboInOwl:hasDbXref UMLS:C5681427 semapv:UnspecifiedMatching +Orphanet:522530 Rare genetic disorder with entropion oboInOwl:hasDbXref UMLS:C5681424 semapv:UnspecifiedMatching +Orphanet:522532 Rare genetic disorder of the lacrimal apparatus oboInOwl:hasDbXref UMLS:C5681425 semapv:UnspecifiedMatching +Orphanet:522534 Lacrimal drainage system anomaly of genetic origin oboInOwl:hasDbXref UMLS:C5681422 semapv:UnspecifiedMatching +Orphanet:522536 Structural developmental eye defect of genetic origin oboInOwl:hasDbXref UMLS:C5681423 semapv:UnspecifiedMatching +Orphanet:522538 Rare genetic disorder of the anterior segment of the eye oboInOwl:hasDbXref UMLS:C5681420 semapv:UnspecifiedMatching +Orphanet:522540 Anterior segment developmental anomaly of genetic origin oboInOwl:hasDbXref UMLS:C5681421 semapv:UnspecifiedMatching +Orphanet:522542 Rare genetic disorder with conjunctival involvement as a major feature oboInOwl:hasDbXref UMLS:C5681417 semapv:UnspecifiedMatching +Orphanet:522546 Rare genetic disorder with lens opacification oboInOwl:hasDbXref UMLS:C5681419 semapv:UnspecifiedMatching +Orphanet:522548 Syndromic genetic cataract oboInOwl:hasDbXref UMLS:C5681418 semapv:UnspecifiedMatching +Orphanet:522550 Lens size anomaly of genetic origin oboInOwl:hasDbXref UMLS:C5681414 semapv:UnspecifiedMatching +Orphanet:522552 Lens position anomaly of genetic origin oboInOwl:hasDbXref UMLS:C5681413 semapv:UnspecifiedMatching +Orphanet:522554 Syndromic genetic ectopia lentis oboInOwl:hasDbXref UMLS:C5681416 semapv:UnspecifiedMatching +Orphanet:522556 Rare genetic corneal disorder oboInOwl:hasDbXref UMLS:C5681415 semapv:UnspecifiedMatching +Orphanet:522558 Rare genetic disorder with corneal involvement as a major feature oboInOwl:hasDbXref UMLS:C5681410 semapv:UnspecifiedMatching +Orphanet:522560 Genetic corneal dystrophy oboInOwl:hasDbXref UMLS:C5681409 semapv:UnspecifiedMatching +Orphanet:522562 Genetic superficial corneal dystrophy oboInOwl:hasDbXref UMLS:C5681412 semapv:UnspecifiedMatching +Orphanet:522564 Syndromic genetic keratoconus oboInOwl:hasDbXref UMLS:C5681411 semapv:UnspecifiedMatching +Orphanet:522566 Rare genetic inflammatory/autoimmune corneal disorder oboInOwl:hasDbXref UMLS:C5681406 semapv:UnspecifiedMatching +Orphanet:522568 Rare genetic disorder of the pupil oboInOwl:hasDbXref UMLS:C5681405 semapv:UnspecifiedMatching +Orphanet:522570 Rare genetic disorder of the posterior segment of the eye oboInOwl:hasDbXref UMLS:C5681408 semapv:UnspecifiedMatching +Orphanet:522572 Rare genetic retinal disorder oboInOwl:hasDbXref UMLS:C5681407 semapv:UnspecifiedMatching +Orphanet:522574 Rare genetic macular disorder oboInOwl:hasDbXref UMLS:C5681401 semapv:UnspecifiedMatching +Orphanet:522576 Rare genetic retinal vasculopathy oboInOwl:hasDbXref UMLS:C5681402 semapv:UnspecifiedMatching +Orphanet:522578 Rare genetic disorder involving multiple structures of the eye oboInOwl:hasDbXref UMLS:C5681403 semapv:UnspecifiedMatching +Orphanet:522580 Secondary early-onset glaucoma of genetic origin oboInOwl:hasDbXref UMLS:C5681404 semapv:UnspecifiedMatching +Orphanet:522584 Rare genetic choroidal disorder oboInOwl:hasDbXref UMLS:C5681399 semapv:UnspecifiedMatching +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref MESH:C535516 semapv:UnspecifiedMatching +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref OMIM:150800 semapv:UnspecifiedMatching +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer oboInOwl:hasDbXref UMLS:C1708350 semapv:UnspecifiedMatching +Orphanet:523000 Pediatric-onset glaucoma oboInOwl:hasDbXref UMLS:C5681400 semapv:UnspecifiedMatching +Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref MESH:C535808 semapv:UnspecifiedMatching +Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching +Orphanet:52368 Mohr-Tranebjaerg syndrome oboInOwl:hasDbXref UMLS:C0796074 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref ICD10:C97 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref ICD10:C97 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref MedDRA:10066795 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:151623 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIM:609265 semapv:UnspecifiedMatching +Orphanet:524 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS:C0085390 semapv:UnspecifiedMatching +Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref ICD10:C83.1 semapv:UnspecifiedMatching +Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref ICD10:C83.1 semapv:UnspecifiedMatching +Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref MESH:D020522 semapv:UnspecifiedMatching +Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref MedDRA:10061275 semapv:UnspecifiedMatching +Orphanet:52416 Mantle cell lymphoma oboInOwl:hasDbXref UMLS:C4721414 semapv:UnspecifiedMatching +Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref ICD10:C88.4 semapv:UnspecifiedMatching +Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref MedDRA:10060707 semapv:UnspecifiedMatching +Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref OMIM:137245 semapv:UnspecifiedMatching +Orphanet:52417 MALT lymphoma oboInOwl:hasDbXref UMLS:C1850900 semapv:UnspecifiedMatching +Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching +Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref UMLS:C1405854 semapv:UnspecifiedMatching +Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching +Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1847759 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref MESH:C537104 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref OMIM:120502 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref OMIM:602588 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref OMIM:608389 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref UMLS:C4273131 semapv:UnspecifiedMatching +Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref MESH:C563476 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:167320 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615422 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIM:615424 semapv:UnspecifiedMatching +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref UMLS:C1833662 semapv:UnspecifiedMatching +Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching +Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref ICD10:L66.1 semapv:UnspecifiedMatching +Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref MESH:C535892 semapv:UnspecifiedMatching +Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref MedDRA:10081142 semapv:UnspecifiedMatching +Orphanet:525 Lichen planopilaris oboInOwl:hasDbXref UMLS:C0023645 semapv:UnspecifiedMatching +Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref MESH:C535598 semapv:UnspecifiedMatching +Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref OMIM:300352 semapv:UnspecifiedMatching +Orphanet:52503 X-linked creatine transporter deficiency oboInOwl:hasDbXref UMLS:C1845862 semapv:UnspecifiedMatching +Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref MESH:C536458 semapv:UnspecifiedMatching +Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref OMIM:177820 semapv:UnspecifiedMatching +Orphanet:52530 Pseudo-von Willebrand disease oboInOwl:hasDbXref UMLS:C1280798 semapv:UnspecifiedMatching +Orphanet:525677 Genetic congenital malformation of the eye with glaucoma as a major feature oboInOwl:hasDbXref UMLS:C5681398 semapv:UnspecifiedMatching +Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref ICD10:E05.0 semapv:UnspecifiedMatching +Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref ICD10:E05.0 semapv:UnspecifiedMatching +Orphanet:525731 Pediatric-onset Graves disease oboInOwl:hasDbXref UMLS:C5680179 semapv:UnspecifiedMatching +Orphanet:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref ICD10:F50.0 semapv:UnspecifiedMatching +Orphanet:525738 Prepubertal anorexia nervosa oboInOwl:hasDbXref UMLS:C5568567 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref MESH:D056929 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref MedDRA:10052313 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref OMIM:618114 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref OMIM:618126 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref UMLS:C0221043 semapv:UnspecifiedMatching +Orphanet:526 Liddle syndrome oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:52662 Rare teratologic disease oboInOwl:hasDbXref UMLS:C5680156 semapv:UnspecifiedMatching +Orphanet:52688 Myelodysplastic syndrome oboInOwl:hasDbXref MESH:D009190 semapv:UnspecifiedMatching +Orphanet:52688 Myelodysplastic syndrome oboInOwl:hasDbXref MedDRA:10028532 semapv:UnspecifiedMatching +Orphanet:52688 Myelodysplastic syndrome oboInOwl:hasDbXref OMIM:614286 semapv:UnspecifiedMatching +Orphanet:52688 Myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C3463824 semapv:UnspecifiedMatching +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:614388 semapv:UnspecifiedMatching +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref UMLS:C5681458 semapv:UnspecifiedMatching +Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref OMIM:617662 semapv:UnspecifiedMatching +Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome oboInOwl:hasDbXref UMLS:C4540020 semapv:UnspecifiedMatching +Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome oboInOwl:hasDbXref UMLS:C5681454 semapv:UnspecifiedMatching +Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIM:617560 semapv:UnspecifiedMatching +Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C4479653 semapv:UnspecifiedMatching +Orphanet:52759 Vasculitis oboInOwl:hasDbXref MESH:D014657 semapv:UnspecifiedMatching +Orphanet:52759 Vasculitis oboInOwl:hasDbXref MedDRA:10047115 semapv:UnspecifiedMatching +Orphanet:52759 Vasculitis oboInOwl:hasDbXref UMLS:C0042384 semapv:UnspecifiedMatching +Orphanet:52759 Vasculitis oboInOwl:hasDbXref icd11:4A44 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref MESH:D052497 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref MedDRA:10024603 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:269700 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:606721 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:608594 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:612526 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0221032 semapv:UnspecifiedMatching +Orphanet:528 Congenital generalized lipodystrophy oboInOwl:hasDbXref icd11:LD27.60 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:301029 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:606053 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:617755 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618009 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618292 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618342 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618430 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618470 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618512 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618569 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618653 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618659 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618906 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618914 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618922 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618971 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618974 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619000 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619005 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619031 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619056 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619072 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619076 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619083 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619091 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619092 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619099 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619125 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619149 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619157 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619239 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619243 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619244 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619264 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619268 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619306 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619314 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619320 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:620065 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:620098 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5568766 semapv:UnspecifiedMatching +Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref OMIM:617021 semapv:UnspecifiedMatching +Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome oboInOwl:hasDbXref UMLS:C4310761 semapv:UnspecifiedMatching +Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref OMIM:617671 semapv:UnspecifiedMatching +Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome oboInOwl:hasDbXref UMLS:C4522164 semapv:UnspecifiedMatching +Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref UMLS:C4552294 semapv:UnspecifiedMatching +Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref UMLS:C1960459 semapv:UnspecifiedMatching +Orphanet:528663 Acquired angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:529 Roch-Leri mesosomatous lipomatosis oboInOwl:hasDbXref UMLS:C4274284 semapv:UnspecifiedMatching +Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref MESH:C537070 semapv:UnspecifiedMatching +Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref OMIM:229070 semapv:UnspecifiedMatching +Orphanet:52901 Isolated follicle stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C1856716 semapv:UnspecifiedMatching +Orphanet:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching +Orphanet:529468 Monoclonal mast cell activation syndrome oboInOwl:hasDbXref UMLS:C4267893 semapv:UnspecifiedMatching +Orphanet:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref OMIM:617041 semapv:UnspecifiedMatching +Orphanet:529574 Duane retraction syndrome with congenital deafness oboInOwl:hasDbXref UMLS:C5680193 semapv:UnspecifiedMatching +Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref OMIM:617810 semapv:UnspecifiedMatching +Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref UMLS:C4540520 semapv:UnspecifiedMatching +Orphanet:529799 Acute bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching +Orphanet:529799 Acute bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching +Orphanet:529799 Acute bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C5671282 semapv:UnspecifiedMatching +Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching +Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching +Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C5575229 semapv:UnspecifiedMatching +Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching +Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching +Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref UMLS:C5681461 semapv:UnspecifiedMatching +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0221287 semapv:UnspecifiedMatching +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma oboInOwl:hasDbXref icd11:2C12.00 semapv:UnspecifiedMatching +Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching +Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching +Orphanet:529864 Secondary erythromelalgia oboInOwl:hasDbXref UMLS:C0543820 semapv:UnspecifiedMatching +Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref ICD10:D31.6 semapv:UnspecifiedMatching +Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref ICD10:D31.6 semapv:UnspecifiedMatching +Orphanet:52994 Orbital leiomyoma oboInOwl:hasDbXref UMLS:C4305000 semapv:UnspecifiedMatching +Orphanet:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:529962 17q24.2 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5680185 semapv:UnspecifiedMatching +Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617682 semapv:UnspecifiedMatching +Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4540131 semapv:UnspecifiedMatching +Orphanet:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching +Orphanet:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref OMIM:617187 semapv:UnspecifiedMatching +Orphanet:529970 Male infertility due to acephalic spermatozoa oboInOwl:hasDbXref OMIM:618112 semapv:UnspecifiedMatching +Orphanet:529974 Immune dysregulation with inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5681462 semapv:UnspecifiedMatching +Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome oboInOwl:hasDbXref OMIM:618108 semapv:UnspecifiedMatching +Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome oboInOwl:hasDbXref UMLS:C5568533 semapv:UnspecifiedMatching +Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome oboInOwl:hasDbXref UMLS:C5568532 semapv:UnspecifiedMatching +Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref OMIM:166600 semapv:UnspecifiedMatching +Orphanet:53 Albers-Schönberg osteopetrosis oboInOwl:hasDbXref UMLS:C3179239 semapv:UnspecifiedMatching +Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching +Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching +Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref MESH:D008065 semapv:UnspecifiedMatching +Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref OMIM:247100 semapv:UnspecifiedMatching +Orphanet:530 Lipoid proteinosis oboInOwl:hasDbXref UMLS:C0023795 semapv:UnspecifiedMatching +Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system oboInOwl:hasDbXref UMLS:C5680190 semapv:UnspecifiedMatching +Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C5680144 semapv:UnspecifiedMatching +Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 semapv:UnspecifiedMatching +Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C5680143 semapv:UnspecifiedMatching +Orphanet:530313 PIK3CA-related overgrowth syndrome oboInOwl:hasDbXref MedDRA:10081236 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref MedDRA:10013003 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref OMIM:600643 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching +Orphanet:53035 Caroli disease oboInOwl:hasDbXref icd11:LB20.00 semapv:UnspecifiedMatching +Orphanet:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICD10:D43.0 semapv:UnspecifiedMatching +Orphanet:530792 RELA fusion-positive ependymoma oboInOwl:hasDbXref UMLS:C4289581 semapv:UnspecifiedMatching +Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching +Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma oboInOwl:hasDbXref UMLS:C5680142 semapv:UnspecifiedMatching +Orphanet:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching +Orphanet:530849 Familial apolipoprotein A5 deficiency oboInOwl:hasDbXref UMLS:C5680141 semapv:UnspecifiedMatching +Orphanet:530983 Lamb-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:530983 Lamb-Shaffer syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:530983 Lamb-Shaffer syndrome oboInOwl:hasDbXref OMIM:616803 semapv:UnspecifiedMatching +Orphanet:530983 Lamb-Shaffer syndrome oboInOwl:hasDbXref UMLS:C4225202 semapv:UnspecifiedMatching +Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:530995 Mixed phenotype acute leukemia oboInOwl:hasDbXref UMLS:C2826025 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref MedDRA:10068361 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref OMIM:247200 semapv:UnspecifiedMatching +Orphanet:531 Miller-Dieker syndrome oboInOwl:hasDbXref UMLS:C0265219 semapv:UnspecifiedMatching +Orphanet:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:531151 9q21.13 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5681312 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref MESH:C537369 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref MedDRA:10088781 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching +Orphanet:53271 Muenke syndrome oboInOwl:hasDbXref UMLS:C1864436 semapv:UnspecifiedMatching +Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref ICD10:L94.8 semapv:UnspecifiedMatching +Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref ICD10:L94.8 semapv:UnspecifiedMatching +Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref MESH:C562925 semapv:UnspecifiedMatching +Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref OMIM:115250 semapv:UnspecifiedMatching +Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref UMLS:C0406817 semapv:UnspecifiedMatching +Orphanet:53296 Familial cutaneous collagenoma oboInOwl:hasDbXref icd11:LC2Y semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.0 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.0 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.1 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.7 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.8 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.8 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.9 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref ICD10:A32.9 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref MESH:D008088 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref MedDRA:10024641 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref UMLS:C0023860 semapv:UnspecifiedMatching +Orphanet:533 Listeriosis oboInOwl:hasDbXref icd11:1C1A.Y semapv:UnspecifiedMatching +Orphanet:53347 Brody myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:53347 Brody myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:53347 Brody myopathy oboInOwl:hasDbXref MESH:C536607 semapv:UnspecifiedMatching +Orphanet:53347 Brody myopathy oboInOwl:hasDbXref OMIM:601003 semapv:UnspecifiedMatching +Orphanet:53347 Brody myopathy oboInOwl:hasDbXref UMLS:C1832918 semapv:UnspecifiedMatching +Orphanet:53347 Brody myopathy oboInOwl:hasDbXref icd11:8C7Y semapv:UnspecifiedMatching +Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref MESH:C564048 semapv:UnspecifiedMatching +Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref OMIM:314250 semapv:UnspecifiedMatching +Orphanet:53351 X-linked dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1839130 semapv:UnspecifiedMatching +Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching +Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref MESH:C537682 semapv:UnspecifiedMatching +Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref OMIM:190100 semapv:UnspecifiedMatching +Orphanet:53372 Hereditary geniospasm oboInOwl:hasDbXref UMLS:C2931589 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MESH:D009800 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref MedDRA:10051707 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching +Orphanet:534 Oculocerebrorenal syndrome of Lowe oboInOwl:hasDbXref UMLS:C0028860 semapv:UnspecifiedMatching +Orphanet:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref MedDRA:10056509 semapv:UnspecifiedMatching +Orphanet:535 Rare cutaneous lupus erythematosus oboInOwl:hasDbXref UMLS:C5680424 semapv:UnspecifiedMatching +Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref MESH:C564835 semapv:UnspecifiedMatching +Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref OMIM:268100 semapv:UnspecifiedMatching +Orphanet:53540 Goldmann-Favre syndrome oboInOwl:hasDbXref UMLS:C0339541 semapv:UnspecifiedMatching +Orphanet:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:535453 Familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref OMIM:246650 semapv:UnspecifiedMatching +Orphanet:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching +Orphanet:535458 Familial GPIHBP1 deficiency oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref MESH:C563401 semapv:UnspecifiedMatching +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref UMLS:C1832855 semapv:UnspecifiedMatching +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref MedDRA:10042945 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref OMIM:301080 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C0024141 semapv:UnspecifiedMatching +Orphanet:536 Systemic lupus erythematosus oboInOwl:hasDbXref icd11:4A40.0 semapv:UnspecifiedMatching +Orphanet:536391 RASopathy oboInOwl:hasDbXref UMLS:C5555857 semapv:UnspecifiedMatching +Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130070 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:612350 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5680154 semapv:UnspecifiedMatching +Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:616471 semapv:UnspecifiedMatching +Orphanet:536516 Myopathic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5680153 semapv:UnspecifiedMatching +Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref OMIM:618000 semapv:UnspecifiedMatching +Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 oboInOwl:hasDbXref UMLS:C4693870 semapv:UnspecifiedMatching +Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536198 semapv:UnspecifiedMatching +Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C4551497 semapv:UnspecifiedMatching +Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref MESH:C536210 semapv:UnspecifiedMatching +Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref OMIM:214700 semapv:UnspecifiedMatching +Orphanet:53689 Congenital chloride diarrhea oboInOwl:hasDbXref UMLS:C0267662 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref ICD10:E73.0 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref MESH:C562600 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref MedDRA:10086148 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref UMLS:C0268179 semapv:UnspecifiedMatching +Orphanet:53690 Congenital lactase deficiency oboInOwl:hasDbXref icd11:5C61.61 semapv:UnspecifiedMatching +Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching +Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:121400 semapv:UnspecifiedMatching +Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:217300 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref MedDRA:10081684 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref OMIM:603358 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref UMLS:C1864002 semapv:UnspecifiedMatching +Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref OMIM:611890 semapv:UnspecifiedMatching +Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref UMLS:C2678471 semapv:UnspecifiedMatching +Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:166260 semapv:UnspecifiedMatching +Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1833736 semapv:UnspecifiedMatching +Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref UMLS:C5681316 semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref MedDRA:10044223 semapv:UnspecifiedMatching +Orphanet:537 Toxic epidermal necrolysis oboInOwl:hasDbXref UMLS:C0014518 semapv:UnspecifiedMatching +Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh oboInOwl:hasDbXref UMLS:C5680155 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref ICD10:M11.2 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref MedDRA:10059364 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching +Orphanet:53715 Familial tumoral calcinosis oboInOwl:hasDbXref UMLS:C0263628 semapv:UnspecifiedMatching +Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching +Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MESH:C536752 semapv:UnspecifiedMatching +Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref MedDRA:10048661 semapv:UnspecifiedMatching +Orphanet:53719 Wyburn-Mason syndrome oboInOwl:hasDbXref UMLS:C0265321 semapv:UnspecifiedMatching +Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching +Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref MedDRA:10068841 semapv:UnspecifiedMatching +Orphanet:53721 Spinal arteriovenous metameric syndrome oboInOwl:hasDbXref UMLS:C0346068 semapv:UnspecifiedMatching +Orphanet:53739 Distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C0393541 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MESH:D018192 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref MedDRA:10049459 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching +Orphanet:538 Lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS:C0751674 semapv:UnspecifiedMatching +Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref MESH:C565773 semapv:UnspecifiedMatching +Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref OMIM:604431 semapv:UnspecifiedMatching +Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy oboInOwl:hasDbXref UMLS:C1858353 semapv:UnspecifiedMatching +Orphanet:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:538101 Congenital axonal neuropathy with encephalopathy oboInOwl:hasDbXref UMLS:C5681314 semapv:UnspecifiedMatching +Orphanet:538238 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect oboInOwl:hasDbXref UMLS:C5681315 semapv:UnspecifiedMatching +Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref OMIM:148360 semapv:UnspecifiedMatching +Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome oboInOwl:hasDbXref UMLS:C1835671 semapv:UnspecifiedMatching +Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref MESH:C536847 semapv:UnspecifiedMatching +Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref OMIM:190340 semapv:UnspecifiedMatching +Orphanet:538756 Familial multiple discoid fibromas oboInOwl:hasDbXref UMLS:C1860850 semapv:UnspecifiedMatching +Orphanet:538863 Classic pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538863 Classic pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538863 Classic pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C5680157 semapv:UnspecifiedMatching +Orphanet:538863 Classic pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C5681317 semapv:UnspecifiedMatching +Orphanet:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C5680158 semapv:UnspecifiedMatching +Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref UMLS:C5399825 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref MESH:C564469 semapv:UnspecifiedMatching +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref UMLS:C1845076 semapv:UnspecifiedMatching +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref OMIM:618261 semapv:UnspecifiedMatching +Orphanet:538958 Combined immunodeficiency due to CD70 deficiency oboInOwl:hasDbXref UMLS:C5568559 semapv:UnspecifiedMatching +Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref OMIM:613011 semapv:UnspecifiedMatching +Orphanet:538963 Combined immunodeficiency due to ITK deficiency oboInOwl:hasDbXref UMLS:C3552634 semapv:UnspecifiedMatching +Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref MESH:C537863 semapv:UnspecifiedMatching +Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref OMIM:300500 semapv:UnspecifiedMatching +Orphanet:54 X-linked recessive ocular albinism oboInOwl:hasDbXref UMLS:C0342684 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MedDRA:10070904 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:267700 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:603552 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:603553 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:608898 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:613101 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIM:618998 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0272199 semapv:UnspecifiedMatching +Orphanet:540 Familial hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching +Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref ICD10:D50.1 semapv:UnspecifiedMatching +Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref ICD10:D50.1 semapv:UnspecifiedMatching +Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MESH:D011004 semapv:UnspecifiedMatching +Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref MedDRA:10040664 semapv:UnspecifiedMatching +Orphanet:54028 Plummer-Vinson syndrome oboInOwl:hasDbXref UMLS:C0032249 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MedDRA:10043648 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching +Orphanet:54057 Thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0034155 semapv:UnspecifiedMatching +Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching +Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease oboInOwl:hasDbXref UMLS:C5679826 semapv:UnspecifiedMatching +Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref OMIM:617093 semapv:UnspecifiedMatching +Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome oboInOwl:hasDbXref UMLS:C5568558 semapv:UnspecifiedMatching +Orphanet:541443 Anomalous aortic origin of the left coronary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:541443 Anomalous aortic origin of the left coronary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:541443 Anomalous aortic origin of the left coronary artery oboInOwl:hasDbXref UMLS:C5680161 semapv:UnspecifiedMatching +Orphanet:541454 Anomalous aortic origin of the right coronary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:541454 Anomalous aortic origin of the right coronary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:541454 Anomalous aortic origin of the right coronary artery oboInOwl:hasDbXref UMLS:C5680160 semapv:UnspecifiedMatching +Orphanet:541478 Anomalous aortic origin of coronary artery oboInOwl:hasDbXref UMLS:C5680159 semapv:UnspecifiedMatching +Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery oboInOwl:hasDbXref UMLS:C4023252 semapv:UnspecifiedMatching +Orphanet:542 Primary cutaneous lymphoma oboInOwl:hasDbXref MedDRA:10051708 semapv:UnspecifiedMatching +Orphanet:542 Primary cutaneous lymphoma oboInOwl:hasDbXref UMLS:C1302772 semapv:UnspecifiedMatching +Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching +Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency oboInOwl:hasDbXref UMLS:C5568557 semapv:UnspecifiedMatching +Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref OMIM:617173 semapv:UnspecifiedMatching +Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome oboInOwl:hasDbXref UMLS:C5568877 semapv:UnspecifiedMatching +Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref MESH:C000598644 semapv:UnspecifiedMatching +Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref MedDRA:10084766 semapv:UnspecifiedMatching +Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref OMIM:614561 semapv:UnspecifiedMatching +Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDbXref UMLS:C3281200 semapv:UnspecifiedMatching +Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref UMLS:C5680162 semapv:UnspecifiedMatching +Orphanet:54238 Myotonic dystrophy type 3 oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 semapv:UnspecifiedMatching +Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref UMLS:C4275079 semapv:UnspecifiedMatching +Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref UMLS:C4303863 semapv:UnspecifiedMatching +Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref MESH:D000082902 semapv:UnspecifiedMatching +Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref UMLS:C0345002 semapv:UnspecifiedMatching +Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref OMIM:617717 semapv:UnspecifiedMatching +Orphanet:542585 Auditory neuropathy-optic atrophy syndrome oboInOwl:hasDbXref UMLS:C4521678 semapv:UnspecifiedMatching +Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref ICD10:L92.1 semapv:UnspecifiedMatching +Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref MESH:D009335 semapv:UnspecifiedMatching +Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref UMLS:C0027538 semapv:UnspecifiedMatching +Orphanet:542592 Necrobiosis lipoidica oboInOwl:hasDbXref icd11:EE80.1 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:601493 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:601494 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:604169 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:609470 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:611878 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:613424 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:613426 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615092 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615373 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref OMIM:615396 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref UMLS:C1960469 semapv:UnspecifiedMatching +Orphanet:54260 Left ventricular noncompaction oboInOwl:hasDbXref icd11:BC44 semapv:UnspecifiedMatching +Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref ICD10:L95.0 semapv:UnspecifiedMatching +Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref ICD10:L95.0 semapv:UnspecifiedMatching +Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref MESH:D000090122 semapv:UnspecifiedMatching +Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref UMLS:C0343081 semapv:UnspecifiedMatching +Orphanet:542643 Livedoid vasculopathy oboInOwl:hasDbXref icd11:EF50 semapv:UnspecifiedMatching +Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching +Orphanet:542657 Isolated hyperchlorhidrosis oboInOwl:hasDbXref UMLS:C1840437 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref MESH:D018248 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref MedDRA:10019827 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref UMLS:C0206669 semapv:UnspecifiedMatching +Orphanet:54272 Hepatocellular adenoma oboInOwl:hasDbXref icd11:XH68V1 semapv:UnspecifiedMatching +Orphanet:542822 Anomaly of the coronary ostia oboInOwl:hasDbXref UMLS:C5681322 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C83.7 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref ICD10:C91.8 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref MedDRA:10006595 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0006413 semapv:UnspecifiedMatching +Orphanet:543 Burkitt lymphoma oboInOwl:hasDbXref icd11:XH4KA9 semapv:UnspecifiedMatching +Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5681321 semapv:UnspecifiedMatching +Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref ICD10:A07.8 semapv:UnspecifiedMatching +Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref ICD10:A07.8 semapv:UnspecifiedMatching +Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref MESH:D012523 semapv:UnspecifiedMatching +Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref MedDRA:10039483 semapv:UnspecifiedMatching +Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref UMLS:C0036231 semapv:UnspecifiedMatching +Orphanet:54368 Sarcocystosis oboInOwl:hasDbXref icd11:1A34 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref ICD10:N03.5 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref MedDRA:10018370 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:614809 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching +Orphanet:54370 Primary membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0017662 semapv:UnspecifiedMatching +Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MESH:D016403 semapv:UnspecifiedMatching +Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10012818 semapv:UnspecifiedMatching +Orphanet:544 Diffuse large B-cell lymphoma oboInOwl:hasDbXref UMLS:C0079744 semapv:UnspecifiedMatching +Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5680163 semapv:UnspecifiedMatching +Orphanet:544458 Hemolytic uremic syndrome oboInOwl:hasDbXref MESH:D006463 semapv:UnspecifiedMatching +Orphanet:544458 Hemolytic uremic syndrome oboInOwl:hasDbXref MedDRA:10018932 semapv:UnspecifiedMatching +Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref OMIM:617481 semapv:UnspecifiedMatching +Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref UMLS:C4479566 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612922 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612923 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612924 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612925 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:612926 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality oboInOwl:hasDbXref UMLS:C5680166 semapv:UnspecifiedMatching +Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:544482 Infection-related hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C5680165 semapv:UnspecifiedMatching +Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref OMIM:619075 semapv:UnspecifiedMatching +Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome oboInOwl:hasDbXref UMLS:C5436741 semapv:UnspecifiedMatching +Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C5680164 semapv:UnspecifiedMatching +Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref OMIM:618379 semapv:UnspecifiedMatching +Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5193065 semapv:UnspecifiedMatching +Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form oboInOwl:hasDbXref UMLS:C5681326 semapv:UnspecifiedMatching +Orphanet:544590 Collagen-related glomerular basement membrane disease oboInOwl:hasDbXref UMLS:C5681325 semapv:UnspecifiedMatching +Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref OMIM:618414 semapv:UnspecifiedMatching +Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers oboInOwl:hasDbXref UMLS:C5193081 semapv:UnspecifiedMatching +Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref OMIM:616026 semapv:UnspecifiedMatching +Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome oboInOwl:hasDbXref UMLS:C5681324 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.0 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.0 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.1 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.1 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.2 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.2 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.3 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.3 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.4 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.5 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.6 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.7 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref ICD10:C82.9 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MESH:D008224 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MedDRA:10085128 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref OMIM:613024 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref UMLS:C0024301 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.2 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.4 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.5 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.6 semapv:UnspecifiedMatching +Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref ICD10:D44.4 semapv:UnspecifiedMatching +Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref ICD10:D44.4 semapv:UnspecifiedMatching +Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching +Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref MedDRA:10011318 semapv:UnspecifiedMatching +Orphanet:54595 Craniopharyngioma oboInOwl:hasDbXref UMLS:C0010276 semapv:UnspecifiedMatching +Orphanet:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching +Orphanet:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref MedDRA:10029547 semapv:UnspecifiedMatching +Orphanet:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref OMIM:605027 semapv:UnspecifiedMatching +Orphanet:547 Non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0024305 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.0 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.0 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.1 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.1 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.2 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.2 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.3 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.4 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.5 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.8 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref ICD10:A30.9 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref MESH:D007918 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref MedDRA:10024229 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:246300 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:607572 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:609888 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:610988 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:613223 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref UMLS:C0023343 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20 semapv:UnspecifiedMatching +Orphanet:548 Leprosy oboInOwl:hasDbXref icd11:1B20.0 semapv:UnspecifiedMatching +Orphanet:549 Legionnaires disease oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching +Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MESH:D007877 semapv:UnspecifiedMatching +Orphanet:549 Legionnaires disease oboInOwl:hasDbXref MedDRA:10035718 semapv:UnspecifiedMatching +Orphanet:549 Legionnaires disease oboInOwl:hasDbXref UMLS:C0023241 semapv:UnspecifiedMatching +Orphanet:549 Legionnaires disease oboInOwl:hasDbXref icd11:1C19.1 semapv:UnspecifiedMatching +Orphanet:55 Oculocutaneous albinism oboInOwl:hasDbXref MESH:D016115 semapv:UnspecifiedMatching +Orphanet:55 Oculocutaneous albinism oboInOwl:hasDbXref UMLS:C0078918 semapv:UnspecifiedMatching +Orphanet:55 Oculocutaneous albinism oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref MedDRA:10053872 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching +Orphanet:550 MELAS oboInOwl:hasDbXref UMLS:C0162671 semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref MESH:D017243 semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref MedDRA:10069825 semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref OMIM:545000 semapv:UnspecifiedMatching +Orphanet:551 MERRF oboInOwl:hasDbXref UMLS:C0162672 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref MESH:C562772 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:125850 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:125851 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:600496 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:606391 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:606392 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:606394 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:609812 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:610508 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:612225 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:613370 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:613375 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:616329 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref OMIM:616511 semapv:UnspecifiedMatching +Orphanet:552 MODY oboInOwl:hasDbXref UMLS:C0342276 semapv:UnspecifiedMatching +Orphanet:555 NON RARE IN EUROPE: Celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv:UnspecifiedMatching +Orphanet:555 NON RARE IN EUROPE: Celiac disease oboInOwl:hasDbXref MedDRA:10009839 semapv:UnspecifiedMatching +Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref OMIM:618321 semapv:UnspecifiedMatching +Orphanet:555402 NAD(P)HX dehydratase deficiency oboInOwl:hasDbXref UMLS:C5193026 semapv:UnspecifiedMatching +Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref OMIM:617186 semapv:UnspecifiedMatching +Orphanet:555407 NAD(P)HX epimerase deficiency oboInOwl:hasDbXref UMLS:C4310675 semapv:UnspecifiedMatching +Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching +Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref UMLS:C5681328 semapv:UnspecifiedMatching +Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching +Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver oboInOwl:hasDbXref UMLS:C5680170 semapv:UnspecifiedMatching +Orphanet:555874 Congenital tricuspid valve dysplasia oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:555874 Congenital tricuspid valve dysplasia oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:555874 Congenital tricuspid valve dysplasia oboInOwl:hasDbXref UMLS:C4255215 semapv:UnspecifiedMatching +Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching +Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia oboInOwl:hasDbXref UMLS:C0262436 semapv:UnspecifiedMatching +Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:555905 IgA pemphigus oboInOwl:hasDbXref UMLS:C1274167 semapv:UnspecifiedMatching +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref MESH:C564242 semapv:UnspecifiedMatching +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref OMIM:608423 semapv:UnspecifiedMatching +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 oboInOwl:hasDbXref UMLS:C1842062 semapv:UnspecifiedMatching +Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref MESH:C563794 semapv:UnspecifiedMatching +Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref OMIM:609115 semapv:UnspecifiedMatching +Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 oboInOwl:hasDbXref UMLS:C1836765 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N28.8 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N28.8 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref MESH:D008287 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref UMLS:C0024525 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref icd11:EL3Y semapv:UnspecifiedMatching +Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:556030 Early-onset familial hypoaldosteronism oboInOwl:hasDbXref UMLS:C5680171 semapv:UnspecifiedMatching +Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:556037 Late-onset familial hypoaldosteronism oboInOwl:hasDbXref UMLS:C5680172 semapv:UnspecifiedMatching +Orphanet:556508 Rare disorder due to poisoning oboInOwl:hasDbXref UMLS:C5681335 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref MESH:C537160 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:278150 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:604379 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:605389 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:607903 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:614237 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:614238 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:615059 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:615885 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:618275 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref OMIM:620177 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref UMLS:C1854310 semapv:UnspecifiedMatching +Orphanet:55654 Hypotrichosis simplex oboInOwl:hasDbXref icd11:EC21.2 semapv:UnspecifiedMatching +Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref ICD10:G00.1 semapv:UnspecifiedMatching +Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref ICD10:G00.1 semapv:UnspecifiedMatching +Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref MESH:D008586 semapv:UnspecifiedMatching +Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref MedDRA:10027253 semapv:UnspecifiedMatching +Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref UMLS:C0025295 semapv:UnspecifiedMatching +Orphanet:55655 Pneumococcal meningitis oboInOwl:hasDbXref icd11:1B53 semapv:UnspecifiedMatching +Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref OMIM:618500 semapv:UnspecifiedMatching +Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome oboInOwl:hasDbXref UMLS:C5681334 semapv:UnspecifiedMatching +Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref OMIM:618476 semapv:UnspecifiedMatching +Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia oboInOwl:hasDbXref UMLS:C5681333 semapv:UnspecifiedMatching +Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref MESH:C537771 semapv:UnspecifiedMatching +Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref OMIM:107100 semapv:UnspecifiedMatching +Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref OMIM:207500 semapv:UnspecifiedMatching +Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref OMIM:301800 semapv:UnspecifiedMatching +Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref UMLS:C5680419 semapv:UnspecifiedMatching +Orphanet:557 Non-syndromic anorectal malformation oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:557003 Oculoskeletodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:557003 Oculoskeletodental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:557003 Oculoskeletodental syndrome oboInOwl:hasDbXref OMIM:618440 semapv:UnspecifiedMatching +Orphanet:557003 Oculoskeletodental syndrome oboInOwl:hasDbXref UMLS:C5193101 semapv:UnspecifiedMatching +Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref OMIM:618412 semapv:UnspecifiedMatching +Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency oboInOwl:hasDbXref UMLS:C5681336 semapv:UnspecifiedMatching +Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref OMIM:618328 semapv:UnspecifiedMatching +Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency oboInOwl:hasDbXref UMLS:C5193030 semapv:UnspecifiedMatching +Orphanet:557866 Rare disorder with Hirschsprung disease as a major feature oboInOwl:hasDbXref UMLS:C5681269 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref MedDRA:10026829 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref UMLS:C0024796 semapv:UnspecifiedMatching +Orphanet:558 Marfan syndrome oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching +Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref ICD10:K31.8 semapv:UnspecifiedMatching +Orphanet:558411 Idiopathic gastroparesis oboInOwl:hasDbXref UMLS:C0267171 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref MedDRA:10008734 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref UMLS:C0008479 semapv:UnspecifiedMatching +Orphanet:55880 Chondrosarcoma oboInOwl:hasDbXref icd11:2B50 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref ICD10:C40.2 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref UMLS:C0334556 semapv:UnspecifiedMatching +Orphanet:55881 Adamantinoma oboInOwl:hasDbXref icd11:XH8F52 semapv:UnspecifiedMatching +Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref OMIM:248800 semapv:UnspecifiedMatching +Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref UMLS:C0024814 semapv:UnspecifiedMatching +Orphanet:559 Marinesco-Sjögren syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref MedDRA:10001689 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref OMIM:203500 semapv:UnspecifiedMatching +Orphanet:56 Alkaptonuria oboInOwl:hasDbXref UMLS:C0002066 semapv:UnspecifiedMatching +Orphanet:560 Marshall syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:560 Marshall syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:560 Marshall syndrome oboInOwl:hasDbXref MESH:C536025 semapv:UnspecifiedMatching +Orphanet:560 Marshall syndrome oboInOwl:hasDbXref OMIM:154780 semapv:UnspecifiedMatching +Orphanet:560 Marshall syndrome oboInOwl:hasDbXref UMLS:C0265235 semapv:UnspecifiedMatching +Orphanet:560 Marshall syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref MedDRA:10007426 semapv:UnspecifiedMatching +Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract oboInOwl:hasDbXref UMLS:C5566557 semapv:UnspecifiedMatching +Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref MESH:C536026 semapv:UnspecifiedMatching +Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref OMIM:602535 semapv:UnspecifiedMatching +Orphanet:561 Marshall-Smith syndrome oboInOwl:hasDbXref UMLS:C0265211 semapv:UnspecifiedMatching +Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:561854 FOXG1 syndrome oboInOwl:hasDbXref UMLS:C3150705 semapv:UnspecifiedMatching +Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching +Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching +Orphanet:562 McCune-Albright syndrome oboInOwl:hasDbXref UMLS:C0242292 semapv:UnspecifiedMatching +Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref MESH:C564200 semapv:UnspecifiedMatching +Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref OMIM:614034 semapv:UnspecifiedMatching +Orphanet:562509 Heme oxygenase-1 deficiency oboInOwl:hasDbXref UMLS:C1841651 semapv:UnspecifiedMatching +Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching +Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4225398 semapv:UnspecifiedMatching +Orphanet:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref OMIM:618148 semapv:UnspecifiedMatching +Orphanet:562538 Autosomal recessive extra-oral halitosis oboInOwl:hasDbXref UMLS:C4748387 semapv:UnspecifiedMatching +Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome oboInOwl:hasDbXref ICD10:F72.8 semapv:UnspecifiedMatching +Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome oboInOwl:hasDbXref ICD10:F72.8 semapv:UnspecifiedMatching +Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome oboInOwl:hasDbXref OMIM:613671 semapv:UnspecifiedMatching +Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C3150924 semapv:UnspecifiedMatching +Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref OMIM:618316 semapv:UnspecifiedMatching +Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref UMLS:C5193024 semapv:UnspecifiedMatching +Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome oboInOwl:hasDbXref UMLS:C5680117 semapv:UnspecifiedMatching +Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref ICD10:O90.3 semapv:UnspecifiedMatching +Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref ICD10:O90.3 semapv:UnspecifiedMatching +Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref MedDRA:10049430 semapv:UnspecifiedMatching +Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref UMLS:C0877208 semapv:UnspecifiedMatching +Orphanet:563 Peripartum cardiomyopathy oboInOwl:hasDbXref icd11:JB44.3 semapv:UnspecifiedMatching +Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching +Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref MESH:C535395 semapv:UnspecifiedMatching +Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref OMIM:256050 semapv:UnspecifiedMatching +Orphanet:56304 Atelosteogenesis type II oboInOwl:hasDbXref UMLS:C1850554 semapv:UnspecifiedMatching +Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref MESH:C579928 semapv:UnspecifiedMatching +Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref OMIM:108721 semapv:UnspecifiedMatching +Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref UMLS:C3668942 semapv:UnspecifiedMatching +Orphanet:56305 Atelosteogenesis type III oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:563576 Autoimmune hepatitis type 1 oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563576 Autoimmune hepatitis type 1 oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563576 Autoimmune hepatitis type 1 oboInOwl:hasDbXref UMLS:C4303164 semapv:UnspecifiedMatching +Orphanet:563576 Autoimmune hepatitis type 1 oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching +Orphanet:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref UMLS:C4303163 semapv:UnspecifiedMatching +Orphanet:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching +Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching +Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref MedDRA:10002320 semapv:UnspecifiedMatching +Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref OMIM:270420 semapv:UnspecifiedMatching +Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C5680120 semapv:UnspecifiedMatching +Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref MedDRA:10001501 semapv:UnspecifiedMatching +Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching +Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref ICD10:M92.6 semapv:UnspecifiedMatching +Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref ICD10:M92.6 semapv:UnspecifiedMatching +Orphanet:563991 Osteochondrosis of the tarsal bone oboInOwl:hasDbXref UMLS:C0022765 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:249000 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:603194 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:607361 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:609345 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:611134 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:611561 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:612284 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:613885 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:614209 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:615397 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:616258 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:617562 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref OMIM:619879 semapv:UnspecifiedMatching +Orphanet:564 Meckel syndrome oboInOwl:hasDbXref UMLS:C0265215 semapv:UnspecifiedMatching +Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref ICD10:M92.7 semapv:UnspecifiedMatching +Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref ICD10:M92.7 semapv:UnspecifiedMatching +Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref MESH:C535636 semapv:UnspecifiedMatching +Orphanet:564003 Osteochondrosis of the metatarsal bone oboInOwl:hasDbXref UMLS:C0264099 semapv:UnspecifiedMatching +Orphanet:564127 Genetic nephrotic syndrome oboInOwl:hasDbXref UMLS:C5680119 semapv:UnspecifiedMatching +Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618314 semapv:UnspecifiedMatching +Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5681271 semapv:UnspecifiedMatching +Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref UMLS:C0175816 semapv:UnspecifiedMatching +Orphanet:56425 Cold agglutinin disease oboInOwl:hasDbXref icd11:3A20.1 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref MESH:D007706 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref MedDRA:10027294 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref OMIM:309400 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref UMLS:C0022716 semapv:UnspecifiedMatching +Orphanet:565 Menkes disease oboInOwl:hasDbXref icd11:5C64.0Y semapv:UnspecifiedMatching +Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy oboInOwl:hasDbXref UMLS:C5680124 semapv:UnspecifiedMatching +Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref OMIM:618397 semapv:UnspecifiedMatching +Orphanet:565624 Combined oxidative phosphorylation defect type 39 oboInOwl:hasDbXref UMLS:C5193075 semapv:UnspecifiedMatching +Orphanet:565641 Primary desmosis coli oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:565641 Primary desmosis coli oboInOwl:hasDbXref UMLS:C5680125 semapv:UnspecifiedMatching +Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation oboInOwl:hasDbXref UMLS:C5681283 semapv:UnspecifiedMatching +Orphanet:565782 Methotrexate toxicity oboInOwl:hasDbXref ICD10:Y14 semapv:UnspecifiedMatching +Orphanet:565782 Methotrexate toxicity oboInOwl:hasDbXref ICD10:Y14 semapv:UnspecifiedMatching +Orphanet:565782 Methotrexate toxicity oboInOwl:hasDbXref UMLS:C0568062 semapv:UnspecifiedMatching +Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref OMIM:618213 semapv:UnspecifiedMatching +Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement oboInOwl:hasDbXref UMLS:C5568565 semapv:UnspecifiedMatching +Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref OMIM:618138 semapv:UnspecifiedMatching +Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 oboInOwl:hasDbXref UMLS:C5680122 semapv:UnspecifiedMatching +Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref OMIM:618265 semapv:UnspecifiedMatching +Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4748872 semapv:UnspecifiedMatching +Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref OMIM:618135 semapv:UnspecifiedMatching +Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 oboInOwl:hasDbXref UMLS:C5680123 semapv:UnspecifiedMatching +Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref OMIM:618129 semapv:UnspecifiedMatching +Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 oboInOwl:hasDbXref UMLS:C4748295 semapv:UnspecifiedMatching +Orphanet:566 Congenital microcoria oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:566 Congenital microcoria oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:566 Congenital microcoria oboInOwl:hasDbXref MESH:C537550 semapv:UnspecifiedMatching +Orphanet:566 Congenital microcoria oboInOwl:hasDbXref OMIM:156600 semapv:UnspecifiedMatching +Orphanet:566 Congenital microcoria oboInOwl:hasDbXref UMLS:C1303009 semapv:UnspecifiedMatching +Orphanet:566 Congenital microcoria oboInOwl:hasDbXref icd11:LA11.Y semapv:UnspecifiedMatching +Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref UMLS:C5568564 semapv:UnspecifiedMatching +Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref MedDRA:10085728 semapv:UnspecifiedMatching +Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref OMIM:226300 semapv:UnspecifiedMatching +Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome oboInOwl:hasDbXref UMLS:C4538570 semapv:UnspecifiedMatching +Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching +Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia oboInOwl:hasDbXref UMLS:C5680129 semapv:UnspecifiedMatching +Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha oboInOwl:hasDbXref UMLS:C5680127 semapv:UnspecifiedMatching +Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching +Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching +Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching +Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching +Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref UMLS:C5680128 semapv:UnspecifiedMatching +Orphanet:566393 Acute mast cell leukemia oboInOwl:hasDbXref icd11:2A21.00 semapv:UnspecifiedMatching +Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching +Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref UMLS:C5680130 semapv:UnspecifiedMatching +Orphanet:566396 Chronic mast cell leukemia oboInOwl:hasDbXref icd11:2A21.00 semapv:UnspecifiedMatching +Orphanet:566841 Liver adenomatosis oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:566841 Liver adenomatosis oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching +Orphanet:566841 Liver adenomatosis oboInOwl:hasDbXref UMLS:C5680136 semapv:UnspecifiedMatching +Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:566847 Aprosencephaly/atelencephaly spectrum oboInOwl:hasDbXref UMLS:C5680135 semapv:UnspecifiedMatching +Orphanet:566852 Atelencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:566852 Atelencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:566852 Atelencephaly oboInOwl:hasDbXref UMLS:C0431348 semapv:UnspecifiedMatching +Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:566857 Aprosencephaly oboInOwl:hasDbXref UMLS:C0431349 semapv:UnspecifiedMatching +Orphanet:566862 Left sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching +Orphanet:566862 Left sided atrial isomerism oboInOwl:hasDbXref UMLS:C0344694 semapv:UnspecifiedMatching +Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching +Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref MedDRA:10082326 semapv:UnspecifiedMatching +Orphanet:566943 Mueller-Weiss syndrome oboInOwl:hasDbXref UMLS:C4761149 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref ICD10:D82.1 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref ICD10:D82.1 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MedDRA:10012979 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:125520 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:192430 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref UMLS:C0012236 semapv:UnspecifiedMatching +Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref MESH:C563745 semapv:UnspecifiedMatching +Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref OMIM:609296 semapv:UnspecifiedMatching +Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome oboInOwl:hasDbXref UMLS:C1836437 semapv:UnspecifiedMatching +Orphanet:567544 Idiopathic non-lupus full-house nephropathy oboInOwl:hasDbXref ICD10:N05 semapv:UnspecifiedMatching +Orphanet:567544 Idiopathic non-lupus full-house nephropathy oboInOwl:hasDbXref UMLS:C5680132 semapv:UnspecifiedMatching +Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance oboInOwl:hasDbXref UMLS:C5680131 semapv:UnspecifiedMatching +Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref MESH:C536404 semapv:UnspecifiedMatching +Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619263 semapv:UnspecifiedMatching +Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C5543267 semapv:UnspecifiedMatching +Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C5681293 semapv:UnspecifiedMatching +Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy oboInOwl:hasDbXref UMLS:C5680133 semapv:UnspecifiedMatching +Orphanet:567554 Systemic disease with glomerulopathy as a major feature oboInOwl:hasDbXref UMLS:C5681297 semapv:UnspecifiedMatching +Orphanet:567556 Genetic systemic disease with glomerulopathy as a major feature oboInOwl:hasDbXref UMLS:C5681295 semapv:UnspecifiedMatching +Orphanet:567558 Non-genetic systemic disease with glomerulopathy as a major feature oboInOwl:hasDbXref UMLS:C5681296 semapv:UnspecifiedMatching +Orphanet:567560 Systemic vasculitis associated with glomerulopathy oboInOwl:hasDbXref UMLS:C5681300 semapv:UnspecifiedMatching +Orphanet:567562 Disorder with multisystemic involvement and glomerulopathy oboInOwl:hasDbXref UMLS:C5681301 semapv:UnspecifiedMatching +Orphanet:567564 Nephrotic syndrome without extrarenal manifestations oboInOwl:hasDbXref UMLS:C5681299 semapv:UnspecifiedMatching +Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref UMLS:C3274301 semapv:UnspecifiedMatching +Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref icd11:DB99.60 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref MESH:C537464 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref OMIM:309800 semapv:UnspecifiedMatching +Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref UMLS:C0796016 semapv:UnspecifiedMatching +Orphanet:568041 Primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681302 semapv:UnspecifiedMatching +Orphanet:568044 Primary lymphedema with systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681304 semapv:UnspecifiedMatching +Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema oboInOwl:hasDbXref UMLS:C5681303 semapv:UnspecifiedMatching +Orphanet:568051 GJC2-related late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:568051 GJC2-related late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:568051 GJC2-related late-onset primary lymphedema oboInOwl:hasDbXref OMIM:613480 semapv:UnspecifiedMatching +Orphanet:568051 GJC2-related late-onset primary lymphedema oboInOwl:hasDbXref UMLS:C5681305 semapv:UnspecifiedMatching +Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome oboInOwl:hasDbXref UMLS:C5568569 semapv:UnspecifiedMatching +Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis oboInOwl:hasDbXref OMIM:616843 semapv:UnspecifiedMatching +Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis oboInOwl:hasDbXref UMLS:C4225184 semapv:UnspecifiedMatching +Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching +Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching +Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref OMIM:617300 semapv:UnspecifiedMatching +Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis oboInOwl:hasDbXref UMLS:C5680140 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref ICD10:G43.1 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:141500 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:602481 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:607516 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref OMIM:609634 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref UMLS:C0270862 semapv:UnspecifiedMatching +Orphanet:569 Familial or sporadic hemiplegic migraine oboInOwl:hasDbXref icd11:8A80.10 semapv:UnspecifiedMatching +Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref MESH:C563181 semapv:UnspecifiedMatching +Orphanet:569164 Angiomatoid fibrous histiocytoma oboInOwl:hasDbXref UMLS:C1266127 semapv:UnspecifiedMatching +Orphanet:569248 Microcystic stromal tumor oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:569248 Microcystic stromal tumor oboInOwl:hasDbXref UMLS:C3838965 semapv:UnspecifiedMatching +Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref OMIM:617613 semapv:UnspecifiedMatching +Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref UMLS:C4539919 semapv:UnspecifiedMatching +Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref OMIM:617954 semapv:UnspecifiedMatching +Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref UMLS:C4693741 semapv:UnspecifiedMatching +Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref MESH:D010244 semapv:UnspecifiedMatching +Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref OMIM:211500 semapv:UnspecifiedMatching +Orphanet:56970 Human prion disease oboInOwl:hasDbXref MESH:D017096 semapv:UnspecifiedMatching +Orphanet:56970 Human prion disease oboInOwl:hasDbXref UMLS:C0162534 semapv:UnspecifiedMatching +Orphanet:569816 CELSR1-related late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:569816 CELSR1-related late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:569816 CELSR1-related late-onset primary lymphedema oboInOwl:hasDbXref OMIM:619319 semapv:UnspecifiedMatching +Orphanet:569816 CELSR1-related late-onset primary lymphedema oboInOwl:hasDbXref UMLS:C5681848 semapv:UnspecifiedMatching +Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref OMIM:615907 semapv:UnspecifiedMatching +Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref UMLS:C5680138 semapv:UnspecifiedMatching +Orphanet:569821 Congenital primary lymphedema of Gordon oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref MESH:C562718 semapv:UnspecifiedMatching +Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref OMIM:611881 semapv:UnspecifiedMatching +Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref UMLS:C0272066 semapv:UnspecifiedMatching +Orphanet:57 Glycogen storage disease due to aldolase A deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref MESH:D020331 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref MedDRA:10030069 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref UMLS:C0221060 semapv:UnspecifiedMatching +Orphanet:570 Moebius syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref OMIM:300971 semapv:UnspecifiedMatching +Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref UMLS:C5680366 semapv:UnspecifiedMatching +Orphanet:570371 Bartter syndrome type 5 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching +Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref OMIM:618881 semapv:UnspecifiedMatching +Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref UMLS:C5394377 semapv:UnspecifiedMatching +Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching +Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref UMLS:C5197664 semapv:UnspecifiedMatching +Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref icd11:XH5HJ5 semapv:UnspecifiedMatching +Orphanet:570470 Ricin poisoning oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching +Orphanet:570470 Ricin poisoning oboInOwl:hasDbXref UMLS:C1443942 semapv:UnspecifiedMatching +Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:618835 semapv:UnspecifiedMatching +Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect oboInOwl:hasDbXref UMLS:C5394232 semapv:UnspecifiedMatching +Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref ICD10:I33.0 semapv:UnspecifiedMatching +Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref ICD10:I33.0 semapv:UnspecifiedMatching +Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref MedDRA:10014678 semapv:UnspecifiedMatching +Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref UMLS:C1541923 semapv:UnspecifiedMatching +Orphanet:570762 Infective endocarditis oboInOwl:hasDbXref icd11:BB40 semapv:UnspecifiedMatching +Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching +Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching +Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref MESH:D050798 semapv:UnspecifiedMatching +Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref MedDRA:10061981 semapv:UnspecifiedMatching +Orphanet:57145 SUNCT syndrome oboInOwl:hasDbXref UMLS:C1262087 semapv:UnspecifiedMatching +Orphanet:57146 Rare hepatic disease oboInOwl:hasDbXref UMLS:C5681272 semapv:UnspecifiedMatching +Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref ICD10:M85.3 semapv:UnspecifiedMatching +Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref ICD10:M85.3 semapv:UnspecifiedMatching +Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref UMLS:C5396729 semapv:UnspecifiedMatching +Orphanet:57196 Medial condensing osteitis of the clavicle oboInOwl:hasDbXref icd11:LB72.Y semapv:UnspecifiedMatching +Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref ICD10:D81.7 semapv:UnspecifiedMatching +Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref MESH:C537079 semapv:UnspecifiedMatching +Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref OMIM:209920 semapv:UnspecifiedMatching +Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref UMLS:C2931418 semapv:UnspecifiedMatching +Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref OMIM:618325 semapv:UnspecifiedMatching +Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref UMLS:C5193029 semapv:UnspecifiedMatching +Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching +Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref UMLS:C5437588 semapv:UnspecifiedMatching +Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching +Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 oboInOwl:hasDbXref UMLS:C5680365 semapv:UnspecifiedMatching +Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching +Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 oboInOwl:hasDbXref UMLS:C5680363 semapv:UnspecifiedMatching +Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref MESH:C566196 semapv:UnspecifiedMatching +Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching +Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref OMIM:618042 semapv:UnspecifiedMatching +Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C5680364 semapv:UnspecifiedMatching +Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching +Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching +Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref OMIM:617604 semapv:UnspecifiedMatching +Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref UMLS:C5681722 semapv:UnspecifiedMatching +Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref MESH:C565382 semapv:UnspecifiedMatching +Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref OMIM:251230 semapv:UnspecifiedMatching +Orphanet:572768 Microcephaly-micromelia syndrome oboInOwl:hasDbXref UMLS:C1855079 semapv:UnspecifiedMatching +Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome oboInOwl:hasDbXref OMIM:617604 semapv:UnspecifiedMatching +Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref OMIM:617710 semapv:UnspecifiedMatching +Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref UMLS:C4540192 semapv:UnspecifiedMatching +Orphanet:572798 WARS2-related combined oxidative phosphorylation defect oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching +Orphanet:573 Monilethrix oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:573 Monilethrix oboInOwl:hasDbXref ICD10:Q84.1 semapv:UnspecifiedMatching +Orphanet:573 Monilethrix oboInOwl:hasDbXref MESH:D056734 semapv:UnspecifiedMatching +Orphanet:573 Monilethrix oboInOwl:hasDbXref OMIM:158000 semapv:UnspecifiedMatching +Orphanet:573 Monilethrix oboInOwl:hasDbXref UMLS:C0546966 semapv:UnspecifiedMatching +Orphanet:573 Monilethrix oboInOwl:hasDbXref icd11:EC21.0 semapv:UnspecifiedMatching +Orphanet:573163 Pheochromocytoma-paraganglioma oboInOwl:hasDbXref UMLS:C5681712 semapv:UnspecifiedMatching +Orphanet:573253 Split cord malformation type II oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:573253 Split cord malformation type II oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:573253 Split cord malformation type II oboInOwl:hasDbXref UMLS:C5680360 semapv:UnspecifiedMatching +Orphanet:573253 Split cord malformation type II oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching +Orphanet:573278 Split cord malformation oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:573278 Split cord malformation oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching +Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching +Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref MESH:C537108 semapv:UnspecifiedMatching +Orphanet:574 21q deletion syndrome oboInOwl:hasDbXref UMLS:C0795875 semapv:UnspecifiedMatching +Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref OMIM:616345 semapv:UnspecifiedMatching +Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency oboInOwl:hasDbXref UMLS:C5681719 semapv:UnspecifiedMatching +Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref UMLS:C5680361 semapv:UnspecifiedMatching +Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref MedDRA:10064569 semapv:UnspecifiedMatching +Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref OMIM:191900 semapv:UnspecifiedMatching +Orphanet:575 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS:C0268390 semapv:UnspecifiedMatching +Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy oboInOwl:hasDbXref UMLS:C5680354 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref MESH:C538602 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref MedDRA:10072928 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref OMIM:252500 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref UMLS:C0020725 semapv:UnspecifiedMatching +Orphanet:576 Mucolipidosis type II oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref ICD10:B34.2 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref MESH:D065207 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref MedDRA:10075271 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref UMLS:C3694279 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref icd11:1D64 semapv:UnspecifiedMatching +Orphanet:576074 Middle East respiratory syndrome oboInOwl:hasDbXref icd11:XN3BD semapv:UnspecifiedMatching +Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680353 semapv:UnspecifiedMatching +Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680351 semapv:UnspecifiedMatching +Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680352 semapv:UnspecifiedMatching +Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref UMLS:C4023291 semapv:UnspecifiedMatching +Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref MedDRA:10083270 semapv:UnspecifiedMatching +Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref UMLS:C5243581 semapv:UnspecifiedMatching +Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching +Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref UMLS:C5680358 semapv:UnspecifiedMatching +Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616115 semapv:UnspecifiedMatching +Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C4015276 semapv:UnspecifiedMatching +Orphanet:576356 Sporadic human prion disease oboInOwl:hasDbXref UMLS:C5680356 semapv:UnspecifiedMatching +Orphanet:576360 Acquired human prion disease oboInOwl:hasDbXref UMLS:C5680357 semapv:UnspecifiedMatching +Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref MedDRA:10064199 semapv:UnspecifiedMatching +Orphanet:576370 Variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0376329 semapv:UnspecifiedMatching +Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10:A81.0 semapv:UnspecifiedMatching +Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C2349757 semapv:UnspecifiedMatching +Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease oboInOwl:hasDbXref icd11:8E01.0 semapv:UnspecifiedMatching +Orphanet:576742 Genetic hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C5680355 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref ICD10:E77.0 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref MedDRA:10072929 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref UMLS:C0033788 semapv:UnspecifiedMatching +Orphanet:577 Mucolipidosis type III oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching +Orphanet:57777 Cirrhotic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:57777 Cirrhotic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:57777 Cirrhotic cardiomyopathy oboInOwl:hasDbXref UMLS:C4511053 semapv:UnspecifiedMatching +Orphanet:57777 Cirrhotic cardiomyopathy oboInOwl:hasDbXref icd11:BC43.Y semapv:UnspecifiedMatching +Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref MedDRA:10081724 semapv:UnspecifiedMatching +Orphanet:57782 Mazabraud syndrome oboInOwl:hasDbXref UMLS:C3697137 semapv:UnspecifiedMatching +Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref MedDRA:10072930 semapv:UnspecifiedMatching +Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref OMIM:252650 semapv:UnspecifiedMatching +Orphanet:578 Mucolipidosis type IV oboInOwl:hasDbXref UMLS:C0238286 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref MedDRA:10056886 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref UMLS:C0023786 semapv:UnspecifiedMatching +Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref MedDRA:10083059 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref UMLS:C0270726 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref icd11:8A44.2 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref MedDRA:10056889 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref UMLS:C0026705 semapv:UnspecifiedMatching +Orphanet:580 Mucopolysaccharidosis type 2 oboInOwl:hasDbXref icd11:5C56.31 semapv:UnspecifiedMatching +Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching +Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref ICD10:C91.4 semapv:UnspecifiedMatching +Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MESH:D007943 semapv:UnspecifiedMatching +Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref MedDRA:10019053 semapv:UnspecifiedMatching +Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref UMLS:C0023443 semapv:UnspecifiedMatching +Orphanet:58017 Classic hairy cell leukemia oboInOwl:hasDbXref icd11:2A82.2 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.0 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.0 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.1 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.1 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.3 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.3 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.6 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.6 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.7 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.7 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref ICD10:D16.8 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref MESH:D018215 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref MedDRA:10004430 semapv:UnspecifiedMatching +Orphanet:58040 Osteoblastoma oboInOwl:hasDbXref UMLS:C0029417 semapv:UnspecifiedMatching +Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref ICD10:C25.8 semapv:UnspecifiedMatching +Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas oboInOwl:hasDbXref UMLS:C2987189 semapv:UnspecifiedMatching +Orphanet:580933 Lethal brain and heart developmental defects oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:580933 Lethal brain and heart developmental defects oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:580933 Lethal brain and heart developmental defects oboInOwl:hasDbXref UMLS:C5681706 semapv:UnspecifiedMatching +Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref OMIM:617982 semapv:UnspecifiedMatching +Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome oboInOwl:hasDbXref UMLS:C4693824 semapv:UnspecifiedMatching +Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref ICD10:H31.0 semapv:UnspecifiedMatching +Orphanet:580951 Punctate inner choroidopathy oboInOwl:hasDbXref UMLS:C0730321 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref MedDRA:10056890 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching +Orphanet:581 Mucopolysaccharidosis type 3 oboInOwl:hasDbXref UMLS:C0026706 semapv:UnspecifiedMatching +Orphanet:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:581271 Cramp-fasciculation syndrome oboInOwl:hasDbXref UMLS:C0751381 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref MedDRA:10028095 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:252300 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref UMLS:C0026707 semapv:UnspecifiedMatching +Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching +Orphanet:58208 NON RARE IN EUROPE: Pericarditis oboInOwl:hasDbXref ICD10:I30 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MedDRA:10056892 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref UMLS:C0026709 semapv:UnspecifiedMatching +Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref icd11:5C56.33 semapv:UnspecifiedMatching +Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:583097 Congenital infiltrating lipomatosis of the face oboInOwl:hasDbXref UMLS:C5680341 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:601815 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:610992 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:614023 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref UMLS:C5681678 semapv:UnspecifiedMatching +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form oboInOwl:hasDbXref icd11:5C50.6 semapv:UnspecifiedMatching +Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref OMIM:616038 semapv:UnspecifiedMatching +Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency oboInOwl:hasDbXref UMLS:C5680335 semapv:UnspecifiedMatching +Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching +Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5680336 semapv:UnspecifiedMatching +Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency oboInOwl:hasDbXref UMLS:C5680338 semapv:UnspecifiedMatching +Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching +Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching +Orphanet:583856 Isolated splenic vein thrombosis oboInOwl:hasDbXref UMLS:C5681680 semapv:UnspecifiedMatching +Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref ICD10:K55.0 semapv:UnspecifiedMatching +Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref ICD10:K55.0 semapv:UnspecifiedMatching +Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref UMLS:C5681682 semapv:UnspecifiedMatching +Orphanet:583861 Isolated mesenteric vein thrombosis oboInOwl:hasDbXref icd11:DD30.2 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MESH:D016538 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MedDRA:10056893 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching +Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref UMLS:C0085132 semapv:UnspecifiedMatching +Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref MESH:D052517 semapv:UnspecifiedMatching +Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref OMIM:272200 semapv:UnspecifiedMatching +Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref UMLS:C0268263 semapv:UnspecifiedMatching +Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching +Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref UMLS:C5680318 semapv:UnspecifiedMatching +Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching +Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref UMLS:C5680319 semapv:UnspecifiedMatching +Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:2A70.1 semapv:UnspecifiedMatching +Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref icd11:XH4ZL2 semapv:UnspecifiedMatching +Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) oboInOwl:hasDbXref UMLS:C5680320 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.0 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.1 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref ICD10:E84.8 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref MESH:D003550 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref MedDRA:10011762 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref OMIM:219700 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref UMLS:C0010674 semapv:UnspecifiedMatching +Orphanet:586 Cystic fibrosis oboInOwl:hasDbXref icd11:CA25 semapv:UnspecifiedMatching +Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref ICD10:A81.9 semapv:UnspecifiedMatching +Orphanet:586130 Sporadic fatal insomnia oboInOwl:hasDbXref UMLS:C5567889 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MedDRA:10063042 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 semapv:UnspecifiedMatching +Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:253280 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:613150 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:613153 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:613154 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:615181 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref OMIM:615350 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref UMLS:C0457133 semapv:UnspecifiedMatching +Orphanet:588 Muscle-eye-brain disease oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref MESH:D009157 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref MedDRA:10028417 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:159400 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref OMIM:607085 semapv:UnspecifiedMatching +Orphanet:589 Myasthenia gravis oboInOwl:hasDbXref UMLS:C0026896 semapv:UnspecifiedMatching +Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref OMIM:618961 semapv:UnspecifiedMatching +Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome oboInOwl:hasDbXref UMLS:C5394555 semapv:UnspecifiedMatching +Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome oboInOwl:hasDbXref OMIM:618889 semapv:UnspecifiedMatching +Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome oboInOwl:hasDbXref UMLS:C5394404 semapv:UnspecifiedMatching +Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome oboInOwl:hasDbXref UMLS:C4693672 semapv:UnspecifiedMatching +Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref OMIM:617770 semapv:UnspecifiedMatching +Orphanet:589522 Spinocerebellar ataxia type 46 oboInOwl:hasDbXref UMLS:C4540404 semapv:UnspecifiedMatching +Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref OMIM:617769 semapv:UnspecifiedMatching +Orphanet:589527 Spinocerebellar ataxia type 45 oboInOwl:hasDbXref UMLS:C4540400 semapv:UnspecifiedMatching +Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching +Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref UMLS:C5680315 semapv:UnspecifiedMatching +Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref UMLS:C5229383 semapv:UnspecifiedMatching +Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement oboInOwl:hasDbXref icd11:2A22 semapv:UnspecifiedMatching +Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching +Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref OMIM:616139 semapv:UnspecifiedMatching +Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder oboInOwl:hasDbXref UMLS:C5681638 semapv:UnspecifiedMatching +Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching +Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) oboInOwl:hasDbXref UMLS:C5680314 semapv:UnspecifiedMatching +Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref OMIM:618727 semapv:UnspecifiedMatching +Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies oboInOwl:hasDbXref UMLS:C5680313 semapv:UnspecifiedMatching +Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref OMIM:617284 semapv:UnspecifiedMatching +Orphanet:589618 Dystonia 28 oboInOwl:hasDbXref UMLS:C4310633 semapv:UnspecifiedMatching +Orphanet:589746 Inherited gynecological cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5681634 semapv:UnspecifiedMatching +Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching +Orphanet:589821 Congenital-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680305 semapv:UnspecifiedMatching +Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching +Orphanet:589824 Childhood-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680307 semapv:UnspecifiedMatching +Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching +Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680306 semapv:UnspecifiedMatching +Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching +Orphanet:589830 Adult-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680309 semapv:UnspecifiedMatching +Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching +Orphanet:589833 Late-onset Steinert myotonic dystrophy oboInOwl:hasDbXref UMLS:C5680308 semapv:UnspecifiedMatching +Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref OMIM:620186 semapv:UnspecifiedMatching +Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome oboInOwl:hasDbXref UMLS:C5680310 semapv:UnspecifiedMatching +Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oboInOwl:hasDbXref OMIM:617991 semapv:UnspecifiedMatching +Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oboInOwl:hasDbXref UMLS:C4693860 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MESH:C537047 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MedDRA:10078821 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref UMLS:C0795889 semapv:UnspecifiedMatching +Orphanet:59 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref MedDRA:10083942 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254190 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254210 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:254300 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:601462 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:603034 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:605809 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:608930 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:608931 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:610542 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:614198 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:614750 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616040 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616224 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616228 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616304 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616313 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616314 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616321 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616322 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616323 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616324 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616330 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617143 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:617239 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref OMIM:619461 semapv:UnspecifiedMatching +Orphanet:590 Congenital myasthenic syndrome oboInOwl:hasDbXref UMLS:C0751882 semapv:UnspecifiedMatching +Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching +Orphanet:590539 Isolated melanotic schwannoma oboInOwl:hasDbXref UMLS:C5680304 semapv:UnspecifiedMatching +Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref MESH:C538194 semapv:UnspecifiedMatching +Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref UMLS:C2931766 semapv:UnspecifiedMatching +Orphanet:591 Furuncular myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref OMIM:160500 semapv:UnspecifiedMatching +Orphanet:59135 Laing early-onset distal myopathy oboInOwl:hasDbXref UMLS:C4552004 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref MESH:C564992 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:136900 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:264420 semapv:UnspecifiedMatching +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref UMLS:C1850938 semapv:UnspecifiedMatching +Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref MESH:C537829 semapv:UnspecifiedMatching +Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref UMLS:C2931639 semapv:UnspecifiedMatching +Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref OMIM:617493 semapv:UnspecifiedMatching +Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum oboInOwl:hasDbXref UMLS:C5680303 semapv:UnspecifiedMatching +Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome oboInOwl:hasDbXref OMIM:618164 semapv:UnspecifiedMatching +Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome oboInOwl:hasDbXref UMLS:C5681633 semapv:UnspecifiedMatching +Orphanet:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref OMIM:618332 semapv:UnspecifiedMatching +Orphanet:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref OMIM:618333 semapv:UnspecifiedMatching +Orphanet:592574 Menke-Hennekam syndrome oboInOwl:hasDbXref UMLS:C5681632 semapv:UnspecifiedMatching +Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies oboInOwl:hasDbXref UMLS:C5680295 semapv:UnspecifiedMatching +Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680296 semapv:UnspecifiedMatching +Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies oboInOwl:hasDbXref UMLS:C5680297 semapv:UnspecifiedMatching +Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching +Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680298 semapv:UnspecifiedMatching +Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680299 semapv:UnspecifiedMatching +Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680300 semapv:UnspecifiedMatching +Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching +Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching +Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680301 semapv:UnspecifiedMatching +Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching +Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching +Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680302 semapv:UnspecifiedMatching +Orphanet:59298 Schilder disease oboInOwl:hasDbXref ICD10:G37.0 semapv:UnspecifiedMatching +Orphanet:59298 Schilder disease oboInOwl:hasDbXref ICD10:G37.0 semapv:UnspecifiedMatching +Orphanet:59298 Schilder disease oboInOwl:hasDbXref MESH:D002549 semapv:UnspecifiedMatching +Orphanet:59298 Schilder disease oboInOwl:hasDbXref OMIM:272100 semapv:UnspecifiedMatching +Orphanet:59298 Schilder disease oboInOwl:hasDbXref UMLS:C0007795 semapv:UnspecifiedMatching +Orphanet:59298 Schilder disease oboInOwl:hasDbXref icd11:8A40.Y semapv:UnspecifiedMatching +Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref MESH:C580316 semapv:UnspecifiedMatching +Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref MedDRA:10087101 semapv:UnspecifiedMatching +Orphanet:593 Myofibrillar myopathy oboInOwl:hasDbXref UMLS:C2678065 semapv:UnspecifiedMatching +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref MESH:C564365 semapv:UnspecifiedMatching +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref OMIM:607626 semapv:UnspecifiedMatching +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref UMLS:C1843355 semapv:UnspecifiedMatching +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref icd11:DB96.2Y semapv:UnspecifiedMatching +Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MedDRA:10061988 semapv:UnspecifiedMatching +Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching +Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching +Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref MedDRA:10081507 semapv:UnspecifiedMatching +Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching +Orphanet:59306 McLeod neuroacanthocytosis syndrome oboInOwl:hasDbXref UMLS:C4510408 semapv:UnspecifiedMatching +Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref UMLS:C1866130 semapv:UnspecifiedMatching +Orphanet:595 Centronuclear myopathy oboInOwl:hasDbXref UMLS:C0175709 semapv:UnspecifiedMatching +Orphanet:595 Centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching +Orphanet:595098 Timothy syndrome type 1 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:595098 Timothy syndrome type 1 oboInOwl:hasDbXref UMLS:C5574939 semapv:UnspecifiedMatching +Orphanet:595105 Timothy syndrome type 2 oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:595105 Timothy syndrome type 2 oboInOwl:hasDbXref UMLS:C4304347 semapv:UnspecifiedMatching +Orphanet:595109 Atypical Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:595109 Atypical Timothy syndrome oboInOwl:hasDbXref UMLS:C5575746 semapv:UnspecifiedMatching +Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching +Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref MESH:D054973 semapv:UnspecifiedMatching +Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref MedDRA:10085067 semapv:UnspecifiedMatching +Orphanet:595133 Perivascular epithelioid cell neoplasm oboInOwl:hasDbXref UMLS:C1300127 semapv:UnspecifiedMatching +Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome oboInOwl:hasDbXref UMLS:C5680283 semapv:UnspecifiedMatching +Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref UMLS:C5680282 semapv:UnspecifiedMatching +Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement oboInOwl:hasDbXref UMLS:C5680281 semapv:UnspecifiedMatching +Orphanet:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:595356 Localized dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0474885 semapv:UnspecifiedMatching +Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching +Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref UMLS:C0410203 semapv:UnspecifiedMatching +Orphanet:596 X-linked centronuclear myopathy oboInOwl:hasDbXref icd11:8C72.01 semapv:UnspecifiedMatching +Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching +Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone oboInOwl:hasDbXref UMLS:C5681621 semapv:UnspecifiedMatching +Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref UMLS:C4087124 semapv:UnspecifiedMatching +Orphanet:596448 IgG4-related systemic disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref MESH:C000721467 semapv:UnspecifiedMatching +Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref MedDRA:10085860 semapv:UnspecifiedMatching +Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 semapv:UnspecifiedMatching +Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref UMLS:C5435753 semapv:UnspecifiedMatching +Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref UMLS:C5680288 semapv:UnspecifiedMatching +Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref UMLS:C5680289 semapv:UnspecifiedMatching +Orphanet:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching +Orphanet:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref ICD10:K74.6 semapv:UnspecifiedMatching +Orphanet:596941 Incomplete septal cirrhosis oboInOwl:hasDbXref UMLS:C0544815 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref MESH:D020512 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref MedDRA:10057620 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref UMLS:C0751951 semapv:UnspecifiedMatching +Orphanet:597 Central core disease oboInOwl:hasDbXref icd11:8C72.02 semapv:UnspecifiedMatching +Orphanet:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5680271 semapv:UnspecifiedMatching +Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref OMIM:618088 semapv:UnspecifiedMatching +Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome oboInOwl:hasDbXref UMLS:C5681583 semapv:UnspecifiedMatching +Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref OMIM:619165 semapv:UnspecifiedMatching +Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref UMLS:C5436929 semapv:UnspecifiedMatching +Orphanet:597733 Oculocutaneous albinism type 8 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref OMIM:616831 semapv:UnspecifiedMatching +Orphanet:597738 Luscan-Lumish syndrome oboInOwl:hasDbXref UMLS:C4085873 semapv:UnspecifiedMatching +Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref OMIM:620157 semapv:UnspecifiedMatching +Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C5681587 semapv:UnspecifiedMatching +Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome oboInOwl:hasDbXref UMLS:C5681588 semapv:UnspecifiedMatching +Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C5680266 semapv:UnspecifiedMatching +Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref OMIM:618367 semapv:UnspecifiedMatching +Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome oboInOwl:hasDbXref UMLS:C5193057 semapv:UnspecifiedMatching +Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:597887 ALPI-related inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5681586 semapv:UnspecifiedMatching +Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching +Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref OMIM:145680 semapv:UnspecifiedMatching +Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia oboInOwl:hasDbXref UMLS:C5680265 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref UMLS:C0270962 semapv:UnspecifiedMatching +Orphanet:598 Multiminicore myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:598164 FOXG1 syndrome due to intragenic alteration oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:598164 FOXG1 syndrome due to intragenic alteration oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:598164 FOXG1 syndrome due to intragenic alteration oboInOwl:hasDbXref UMLS:C5681589 semapv:UnspecifiedMatching +Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C65 semapv:UnspecifiedMatching +Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C65 semapv:UnspecifiedMatching +Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref ICD10:C66 semapv:UnspecifiedMatching +Orphanet:598216 Upper tract urothelial carcinoma oboInOwl:hasDbXref UMLS:C0220648 semapv:UnspecifiedMatching +Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref ICD10:U10.9 semapv:UnspecifiedMatching +Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref ICD10:U10.9 semapv:UnspecifiedMatching +Orphanet:598363 Multisystem inflammatory syndrome in children and adults oboInOwl:hasDbXref UMLS:C5680268 semapv:UnspecifiedMatching +Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref OMIM:618381 semapv:UnspecifiedMatching +Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome oboInOwl:hasDbXref UMLS:C5193066 semapv:UnspecifiedMatching +Orphanet:599 Distal myopathy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching +Orphanet:599 Distal myopathy oboInOwl:hasDbXref UMLS:C0751336 semapv:UnspecifiedMatching +Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:618205 semapv:UnspecifiedMatching +Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4748701 semapv:UnspecifiedMatching +Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching +Orphanet:599373 STXBP1-related encephalopathy oboInOwl:hasDbXref UMLS:C5681600 semapv:UnspecifiedMatching +Orphanet:599376 Hypomyelination of early myelinating structures oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:599376 Hypomyelination of early myelinating structures oboInOwl:hasDbXref UMLS:C5680278 semapv:UnspecifiedMatching +Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant oboInOwl:hasDbXref UMLS:C5681601 semapv:UnspecifiedMatching +Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref MESH:C536392 semapv:UnspecifiedMatching +Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref MedDRA:10082745 semapv:UnspecifiedMatching +Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref UMLS:C0272325 semapv:UnspecifiedMatching +Orphanet:599480 Acquired hemophilia A oboInOwl:hasDbXref icd11:3B22 semapv:UnspecifiedMatching +Orphanet:599485 Acquired hemophilia B oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599485 Acquired hemophilia B oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599485 Acquired hemophilia B oboInOwl:hasDbXref MedDRA:10082747 semapv:UnspecifiedMatching +Orphanet:599485 Acquired hemophilia B oboInOwl:hasDbXref UMLS:C0398609 semapv:UnspecifiedMatching +Orphanet:599485 Acquired hemophilia B oboInOwl:hasDbXref icd11:3B22 semapv:UnspecifiedMatching +Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref MedDRA:10086006 semapv:UnspecifiedMatching +Orphanet:599490 Acquired factor V deficiency oboInOwl:hasDbXref UMLS:C4329256 semapv:UnspecifiedMatching +Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599495 Acquired factor VII deficiency oboInOwl:hasDbXref UMLS:C4331989 semapv:UnspecifiedMatching +Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599501 Acquired factor X deficiency oboInOwl:hasDbXref UMLS:C0272328 semapv:UnspecifiedMatching +Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref MedDRA:10082746 semapv:UnspecifiedMatching +Orphanet:599507 Acquired factor XI deficiency oboInOwl:hasDbXref UMLS:C4329257 semapv:UnspecifiedMatching +Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref UMLS:C0238120 semapv:UnspecifiedMatching +Orphanet:599513 Acquired factor XIII deficiency oboInOwl:hasDbXref icd11:3B22 semapv:UnspecifiedMatching +Orphanet:599519 Factor V short isoforms-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599519 Factor V short isoforms-related bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599519 Factor V short isoforms-related bleeding disorder oboInOwl:hasDbXref UMLS:C5680279 semapv:UnspecifiedMatching +Orphanet:599519 Factor V short isoforms-related bleeding disorder oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:599579 Factor V Amsterdam bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599579 Factor V Amsterdam bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:599579 Factor V Amsterdam bleeding disorder oboInOwl:hasDbXref UMLS:C5681605 semapv:UnspecifiedMatching +Orphanet:599579 Factor V Amsterdam bleeding disorder oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref MESH:C535308 semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref UMLS:C4551505 semapv:UnspecifiedMatching +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref MedDRA:10001806 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching +Orphanet:60 Alpha-1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C0221757 semapv:UnspecifiedMatching +Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref MESH:C565262 semapv:UnspecifiedMatching +Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref OMIM:606070 semapv:UnspecifiedMatching +Orphanet:600 Vocal cord and pharyngeal distal myopathy oboInOwl:hasDbXref UMLS:C1853723 semapv:UnspecifiedMatching +Orphanet:60014 Argyria oboInOwl:hasDbXref ICD10:T56.8 semapv:UnspecifiedMatching +Orphanet:60014 Argyria oboInOwl:hasDbXref ICD10:T56.8 semapv:UnspecifiedMatching +Orphanet:60014 Argyria oboInOwl:hasDbXref MESH:D001129 semapv:UnspecifiedMatching +Orphanet:60014 Argyria oboInOwl:hasDbXref MedDRA:10003094 semapv:UnspecifiedMatching +Orphanet:60014 Argyria oboInOwl:hasDbXref UMLS:C0003782 semapv:UnspecifiedMatching +Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching +Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:168500 semapv:UnspecifiedMatching +Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:609566 semapv:UnspecifiedMatching +Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref OMIM:609597 semapv:UnspecifiedMatching +Orphanet:60015 Enlarged parietal foramina oboInOwl:hasDbXref UMLS:C1868598 semapv:UnspecifiedMatching +Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref UMLS:C5681543 semapv:UnspecifiedMatching +Orphanet:600194 Factor V Atlanta bleeding disorder oboInOwl:hasDbXref icd11:3B14.Z semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref MESH:C562405 semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref MedDRA:10037315 semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 semapv:UnspecifiedMatching +Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C0155912 semapv:UnspecifiedMatching +Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref OMIM:178610 semapv:UnspecifiedMatching +Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref UMLS:C1334969 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref MESH:D055947 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref MedDRA:10081284 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:613795 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:614816 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:615582 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref OMIM:619656 semapv:UnspecifiedMatching +Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C2697932 semapv:UnspecifiedMatching +Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref ICD10:J98.8 semapv:UnspecifiedMatching +Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MESH:C535297 semapv:UnspecifiedMatching +Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref MedDRA:10059314 semapv:UnspecifiedMatching +Orphanet:60032 Recurrent respiratory papillomatosis oboInOwl:hasDbXref UMLS:C1168198 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref ICD10:J47 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref ICD10:J47 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref UMLS:C0339985 semapv:UnspecifiedMatching +Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref icd11:CA24 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref MESH:D060545 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref UMLS:C1997249 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref icd11:GA34.0Y semapv:UnspecifiedMatching +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref MESH:C536142 semapv:UnspecifiedMatching +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:602501 semapv:UnspecifiedMatching +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref UMLS:C1865285 semapv:UnspecifiedMatching +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref ICD10:Q24.6 semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref ICD10:Q24.6 semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MedDRA:10019263 semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching +Orphanet:60041 Congenital heart block oboInOwl:hasDbXref UMLS:C0149530 semapv:UnspecifiedMatching +Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref OMIM:614325 semapv:UnspecifiedMatching +Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance oboInOwl:hasDbXref UMLS:C5681528 semapv:UnspecifiedMatching +Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:618147 semapv:UnspecifiedMatching +Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5681527 semapv:UnspecifiedMatching +Orphanet:600691 Combined deficiency of factor VII and factor X oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:600691 Combined deficiency of factor VII and factor X oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:600691 Combined deficiency of factor VII and factor X oboInOwl:hasDbXref UMLS:C5681529 semapv:UnspecifiedMatching +Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref MESH:C536208 semapv:UnspecifiedMatching +Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref OMIM:617752 semapv:UnspecifiedMatching +Orphanet:600731 Clark-Baraitser syndrome oboInOwl:hasDbXref UMLS:C2931130 semapv:UnspecifiedMatching +Orphanet:600832 Legionella infection oboInOwl:hasDbXref ICD10:A48.1 semapv:UnspecifiedMatching +Orphanet:600832 Legionella infection oboInOwl:hasDbXref MESH:D007876 semapv:UnspecifiedMatching +Orphanet:600832 Legionella infection oboInOwl:hasDbXref UMLS:C0023240 semapv:UnspecifiedMatching +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref UMLS:C5680241 semapv:UnspecifiedMatching +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref UMLS:C5680240 semapv:UnspecifiedMatching +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type oboInOwl:hasDbXref UMLS:C5680243 semapv:UnspecifiedMatching +Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type oboInOwl:hasDbXref UMLS:C5680242 semapv:UnspecifiedMatching +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref UMLS:C5680237 semapv:UnspecifiedMatching +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref UMLS:C5680238 semapv:UnspecifiedMatching +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:600998 Non-syndromic cloacal malformation oboInOwl:hasDbXref ICD10:Q43.7 semapv:UnspecifiedMatching +Orphanet:600998 Non-syndromic cloacal malformation oboInOwl:hasDbXref UMLS:C5681533 semapv:UnspecifiedMatching +Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching +Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching +Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching +Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref UMLS:C5680239 semapv:UnspecifiedMatching +Orphanet:601002 Non-syndromic anorectal malformation without fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching +Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref UMLS:C5680233 semapv:UnspecifiedMatching +Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.1 semapv:UnspecifiedMatching +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref ICD10:Q42.3 semapv:UnspecifiedMatching +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref UMLS:C5680234 semapv:UnspecifiedMatching +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia oboInOwl:hasDbXref UMLS:C5680235 semapv:UnspecifiedMatching +Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis oboInOwl:hasDbXref UMLS:C5680236 semapv:UnspecifiedMatching +Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref UMLS:C5680231 semapv:UnspecifiedMatching +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.0 semapv:UnspecifiedMatching +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref ICD10:Q42.2 semapv:UnspecifiedMatching +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref UMLS:C5680232 semapv:UnspecifiedMatching +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref MESH:C536816 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref MedDRA:10077945 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref OMIM:605820 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref OMIM:617158 semapv:UnspecifiedMatching +Orphanet:602 GNE myopathy oboInOwl:hasDbXref UMLS:C1853926 semapv:UnspecifiedMatching +Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref MedDRA:10078052 semapv:UnspecifiedMatching +Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref OMIM:604454 semapv:UnspecifiedMatching +Orphanet:603 Distal myopathy, Welander type oboInOwl:hasDbXref UMLS:C0221054 semapv:UnspecifiedMatching +Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref OMIM:619273 semapv:UnspecifiedMatching +Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome oboInOwl:hasDbXref UMLS:C5543287 semapv:UnspecifiedMatching +Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome oboInOwl:hasDbXref OMIM:617306 semapv:UnspecifiedMatching +Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome oboInOwl:hasDbXref UMLS:C4310625 semapv:UnspecifiedMatching +Orphanet:603515 Isolated female hypospadias oboInOwl:hasDbXref ICD10:Q54.8 semapv:UnspecifiedMatching +Orphanet:603515 Isolated female hypospadias oboInOwl:hasDbXref ICD10:Q54.8 semapv:UnspecifiedMatching +Orphanet:603515 Isolated female hypospadias oboInOwl:hasDbXref UMLS:C5681495 semapv:UnspecifiedMatching +Orphanet:603515 Isolated female hypospadias oboInOwl:hasDbXref icd11:LB53.Y semapv:UnspecifiedMatching +Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome oboInOwl:hasDbXref UMLS:C4310742 semapv:UnspecifiedMatching +Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome oboInOwl:hasDbXref OMIM:617055 semapv:UnspecifiedMatching +Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome oboInOwl:hasDbXref UMLS:C5680210 semapv:UnspecifiedMatching +Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome oboInOwl:hasDbXref UMLS:C5680211 semapv:UnspecifiedMatching +Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching +Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers oboInOwl:hasDbXref UMLS:C5680221 semapv:UnspecifiedMatching +Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref OMIM:602668 semapv:UnspecifiedMatching +Orphanet:606 Proximal myotonic myopathy oboInOwl:hasDbXref UMLS:C2931689 semapv:UnspecifiedMatching +Orphanet:607 Nemaline myopathy oboInOwl:hasDbXref MESH:D017696 semapv:UnspecifiedMatching +Orphanet:607 Nemaline myopathy oboInOwl:hasDbXref UMLS:C0206157 semapv:UnspecifiedMatching +Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 semapv:UnspecifiedMatching +Orphanet:609 Tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1450052 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref MedDRA:10083855 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref UMLS:C0024748 semapv:UnspecifiedMatching +Orphanet:61 Alpha-mannosidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref MESH:C535436 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref OMIM:616471 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref UMLS:C1834674 semapv:UnspecifiedMatching +Orphanet:610 Bethlem muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:617822 semapv:UnspecifiedMatching +Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome oboInOwl:hasDbXref UMLS:C4693347 semapv:UnspecifiedMatching +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref OMIM:619173 semapv:UnspecifiedMatching +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome oboInOwl:hasDbXref UMLS:C5543020 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref MESH:D018979 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref MedDRA:10066407 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref OMIM:147421 semapv:UnspecifiedMatching +Orphanet:611 Inclusion body myositis oboInOwl:hasDbXref UMLS:C0238190 semapv:UnspecifiedMatching +Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:619318 semapv:UnspecifiedMatching +Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome oboInOwl:hasDbXref UMLS:C5543355 semapv:UnspecifiedMatching +Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome oboInOwl:hasDbXref OMIM:619260 semapv:UnspecifiedMatching +Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome oboInOwl:hasDbXref UMLS:C5543257 semapv:UnspecifiedMatching +Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref OMIM:619151 semapv:UnspecifiedMatching +Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome oboInOwl:hasDbXref UMLS:C5436906 semapv:UnspecifiedMatching +Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref OMIM:619217 semapv:UnspecifiedMatching +Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref OMIM:619218 semapv:UnspecifiedMatching +Orphanet:611223 EN1-related dorsoventral syndrome oboInOwl:hasDbXref UMLS:C5680225 semapv:UnspecifiedMatching +Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching +Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref OMIM:619279 semapv:UnspecifiedMatching +Orphanet:611237 Parkinsonism with polyneuropathy oboInOwl:hasDbXref UMLS:C5543299 semapv:UnspecifiedMatching +Orphanet:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref OMIM:617695 semapv:UnspecifiedMatching +Orphanet:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref UMLS:C4540164 semapv:UnspecifiedMatching +Orphanet:611247 Pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref OMIM:618266 semapv:UnspecifiedMatching +Orphanet:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref UMLS:C4748873 semapv:UnspecifiedMatching +Orphanet:611256 Pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome oboInOwl:hasDbXref UMLS:C5681520 semapv:UnspecifiedMatching +Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability oboInOwl:hasDbXref UMLS:C5680226 semapv:UnspecifiedMatching +Orphanet:612 Potassium-aggravated myotonia oboInOwl:hasDbXref MESH:C538353 semapv:UnspecifiedMatching +Orphanet:612 Potassium-aggravated myotonia oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching +Orphanet:612 Potassium-aggravated myotonia oboInOwl:hasDbXref UMLS:C2931826 semapv:UnspecifiedMatching +Orphanet:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref OMIM:618606 semapv:UnspecifiedMatching +Orphanet:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref UMLS:C5231425 semapv:UnspecifiedMatching +Orphanet:613267 Pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref OMIM:619301 semapv:UnspecifiedMatching +Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref UMLS:C5543322 semapv:UnspecifiedMatching +Orphanet:613274 Pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref MedDRA:10028655 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:160800 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching +Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref UMLS:C0027127 semapv:UnspecifiedMatching +Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching +Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching +Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref MESH:C538262 semapv:UnspecifiedMatching +Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref OMIM:255960 semapv:UnspecifiedMatching +Orphanet:615 Familial atrial myxoma oboInOwl:hasDbXref UMLS:C1850635 semapv:UnspecifiedMatching +Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref OMIM:619338 semapv:UnspecifiedMatching +Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref UMLS:C5543440 semapv:UnspecifiedMatching +Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 semapv:UnspecifiedMatching +Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref MedDRA:C0239495 semapv:UnspecifiedMatching +Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref UMLS:C0239495 semapv:UnspecifiedMatching +Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref icd11:EF40.20 semapv:UnspecifiedMatching +Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching +Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref UMLS:C5680387 semapv:UnspecifiedMatching +Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref OMIM:618384 semapv:UnspecifiedMatching +Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate oboInOwl:hasDbXref UMLS:C5193068 semapv:UnspecifiedMatching +Orphanet:615970 Chronic intervillositis of unknown etiology oboInOwl:hasDbXref ICD10:O43.8 semapv:UnspecifiedMatching +Orphanet:615970 Chronic intervillositis of unknown etiology oboInOwl:hasDbXref UMLS:C5680386 semapv:UnspecifiedMatching +Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching +Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5681819 semapv:UnspecifiedMatching +Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching +Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref UMLS:C5680385 semapv:UnspecifiedMatching +Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref MedDRA:10027107 semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref UMLS:C0025149 semapv:UnspecifiedMatching +Orphanet:616 Medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching +Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref ICD10:R69 semapv:UnspecifiedMatching +Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref UMLS:C5680389 semapv:UnspecifiedMatching +Orphanet:616874 Rare disorder without a determined diagnosis after full investigation oboInOwl:hasDbXref icd11:MG48 semapv:UnspecifiedMatching +Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref ICD10:Q62.2 semapv:UnspecifiedMatching +Orphanet:617 Congenital primary megaureter oboInOwl:hasDbXref UMLS:C4273898 semapv:UnspecifiedMatching +Orphanet:617294 Twin anemia-polycythemia sequence oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching +Orphanet:617294 Twin anemia-polycythemia sequence oboInOwl:hasDbXref UMLS:C5576360 semapv:UnspecifiedMatching +Orphanet:617297 Twin-reversed arterial perfusion sequence oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching +Orphanet:617297 Twin-reversed arterial perfusion sequence oboInOwl:hasDbXref UMLS:C5575500 semapv:UnspecifiedMatching +Orphanet:617301 Selective intrauterine growth restriction oboInOwl:hasDbXref ICD10:O31.8 semapv:UnspecifiedMatching +Orphanet:617301 Selective intrauterine growth restriction oboInOwl:hasDbXref UMLS:C5681824 semapv:UnspecifiedMatching +Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref ICD10:O88.1 semapv:UnspecifiedMatching +Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref ICD10:O88.1 semapv:UnspecifiedMatching +Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref MESH:D004619 semapv:UnspecifiedMatching +Orphanet:617304 Amniotic fluid embolism oboInOwl:hasDbXref UMLS:C0013927 semapv:UnspecifiedMatching +Orphanet:617307 Rare disorder related to monochorionic twin pregnancy oboInOwl:hasDbXref UMLS:C5681821 semapv:UnspecifiedMatching +Orphanet:617310 Rare disorder due to unbalanced inter-twin blood transfusion oboInOwl:hasDbXref UMLS:C5681823 semapv:UnspecifiedMatching +Orphanet:617313 Rare disorder due to inadequate sharing of the placenta oboInOwl:hasDbXref UMLS:C5681822 semapv:UnspecifiedMatching +Orphanet:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching +Orphanet:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref ICD10:L73.8 semapv:UnspecifiedMatching +Orphanet:617408 Classic eosinophilic pustular folliculitis oboInOwl:hasDbXref UMLS:C0406305 semapv:UnspecifiedMatching +Orphanet:617440 Painful legs and moving toes syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:617440 Painful legs and moving toes syndrome oboInOwl:hasDbXref UMLS:C5680388 semapv:UnspecifiedMatching +Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome oboInOwl:hasDbXref UMLS:C5681820 semapv:UnspecifiedMatching +Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref ICD10:C69.0 semapv:UnspecifiedMatching +Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref MedDRA:10066384 semapv:UnspecifiedMatching +Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref UMLS:C0346360 semapv:UnspecifiedMatching +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref UMLS:C1333291 semapv:UnspecifiedMatching +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref icd11:2F00.Y semapv:UnspecifiedMatching +Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching +Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching +Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5681829 semapv:UnspecifiedMatching +Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:155600 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:155601 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:155700 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:608035 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:609048 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:613099 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:613972 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:615134 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref OMIM:615848 semapv:UnspecifiedMatching +Orphanet:618 Familial melanoma oboInOwl:hasDbXref UMLS:C1512419 semapv:UnspecifiedMatching +Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C5539139 semapv:UnspecifiedMatching +Orphanet:618899 Acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C5243927 semapv:UnspecifiedMatching +Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure oboInOwl:hasDbXref MedDRA:10036601 semapv:UnspecifiedMatching +Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617101 semapv:UnspecifiedMatching +Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4310833 semapv:UnspecifiedMatching +Orphanet:619249 Rare hereditary connective tissue disease oboInOwl:hasDbXref UMLS:C5681831 semapv:UnspecifiedMatching +Orphanet:619284 Narcolepsy oboInOwl:hasDbXref MESH:D009290 semapv:UnspecifiedMatching +Orphanet:619284 Narcolepsy oboInOwl:hasDbXref MedDRA:10028713 semapv:UnspecifiedMatching +Orphanet:619284 Narcolepsy oboInOwl:hasDbXref UMLS:C0027404 semapv:UnspecifiedMatching +Orphanet:619340 Inherited hematologic cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5681832 semapv:UnspecifiedMatching +Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching +Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching +Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref UMLS:C5680418 semapv:UnspecifiedMatching +Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680414 semapv:UnspecifiedMatching +Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref OMIM:618847 semapv:UnspecifiedMatching +Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref UMLS:C5680413 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619375 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C5680416 semapv:UnspecifiedMatching +Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref OMIM:618982 semapv:UnspecifiedMatching +Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref UMLS:C5680415 semapv:UnspecifiedMatching +Orphanet:619972 CADINS disease oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:619972 CADINS disease oboInOwl:hasDbXref OMIM:617638 semapv:UnspecifiedMatching +Orphanet:619972 CADINS disease oboInOwl:hasDbXref UMLS:C5680417 semapv:UnspecifiedMatching +Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref OMIM:617744 semapv:UnspecifiedMatching +Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome oboInOwl:hasDbXref UMLS:C5681830 semapv:UnspecifiedMatching +Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref OMIM:608099 semapv:UnspecifiedMatching +Orphanet:620 NON RARE IN EUROPE: Common mesentery oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching +Orphanet:620096 Non-syndromic unisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680403 semapv:UnspecifiedMatching +Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref UMLS:C5680401 semapv:UnspecifiedMatching +Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref icd11:LB70.00 semapv:UnspecifiedMatching +Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620113 Non-syndromic unilambdoid craniosynostosis oboInOwl:hasDbXref UMLS:C5680402 semapv:UnspecifiedMatching +Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis oboInOwl:hasDbXref UMLS:C5680399 semapv:UnspecifiedMatching +Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620146 Non-syndromic unisquamosal craniosynostosis oboInOwl:hasDbXref UMLS:C5680400 semapv:UnspecifiedMatching +Orphanet:620152 Non-syndromic multisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680397 semapv:UnspecifiedMatching +Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680398 semapv:UnspecifiedMatching +Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620178 Non-syndromic bilambdoid craniosynostosis oboInOwl:hasDbXref UMLS:C5680395 semapv:UnspecifiedMatching +Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680396 semapv:UnspecifiedMatching +Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680393 semapv:UnspecifiedMatching +Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis oboInOwl:hasDbXref UMLS:C5680394 semapv:UnspecifiedMatching +Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis oboInOwl:hasDbXref UMLS:C5680391 semapv:UnspecifiedMatching +Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching +Orphanet:620212 Non-syndromic pansynostosis oboInOwl:hasDbXref UMLS:C5680392 semapv:UnspecifiedMatching +Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref MESH:C537652 semapv:UnspecifiedMatching +Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching +Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching +Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref MESH:C537651 semapv:UnspecifiedMatching +Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching +Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching +Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref OMIM:616418 semapv:UnspecifiedMatching +Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref UMLS:C5681826 semapv:UnspecifiedMatching +Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching +Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability oboInOwl:hasDbXref UMLS:C5681825 semapv:UnspecifiedMatching +Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation oboInOwl:hasDbXref UMLS:C5680390 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref ICD10:D74.0 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref MESH:C580280 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref MedDRA:10010543 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250700 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250790 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref OMIM:250800 semapv:UnspecifiedMatching +Orphanet:621 Hereditary methemoglobinemia oboInOwl:hasDbXref UMLS:C0272087 semapv:UnspecifiedMatching +Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref OMIM:618278 semapv:UnspecifiedMatching +Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome oboInOwl:hasDbXref UMLS:C4748939 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref UMLS:C4303479 semapv:UnspecifiedMatching +Orphanet:622 Homocystinuria without methylmalonic aciduria oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref ICD10:K31.5 semapv:UnspecifiedMatching +Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref ICD10:K31.5 semapv:UnspecifiedMatching +Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref MESH:D013478 semapv:UnspecifiedMatching +Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref MedDRA:10054156 semapv:UnspecifiedMatching +Orphanet:622099 Superior mesenteric artery syndrome oboInOwl:hasDbXref UMLS:C0038828 semapv:UnspecifiedMatching +Orphanet:622720 Genetic autoinflammatory syndrome with skin involvement oboInOwl:hasDbXref UMLS:C5681827 semapv:UnspecifiedMatching +Orphanet:622914 Rare genetic nevus oboInOwl:hasDbXref UMLS:C5681828 semapv:UnspecifiedMatching +Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref ICD10:I71.1 semapv:UnspecifiedMatching +Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref OMIM:300989 semapv:UnspecifiedMatching +Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection oboInOwl:hasDbXref UMLS:C4310811 semapv:UnspecifiedMatching +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5680412 semapv:UnspecifiedMatching +Orphanet:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref MESH:C531729 semapv:UnspecifiedMatching +Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref UMLS:C2930824 semapv:UnspecifiedMatching +Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:623626 Paraneoplastic cerebellar degeneration oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:623626 Paraneoplastic cerebellar degeneration oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:623626 Paraneoplastic cerebellar degeneration oboInOwl:hasDbXref MESH:D020362 semapv:UnspecifiedMatching +Orphanet:623626 Paraneoplastic cerebellar degeneration oboInOwl:hasDbXref UMLS:C0393534 semapv:UnspecifiedMatching +Orphanet:623626 Paraneoplastic cerebellar degeneration oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:623638 Immune-mediated cerebellar ataxia oboInOwl:hasDbXref UMLS:C5680410 semapv:UnspecifiedMatching +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref UMLS:C5680411 semapv:UnspecifiedMatching +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref ICD10:F45.2 semapv:UnspecifiedMatching +Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref ICD10:F45.2 semapv:UnspecifiedMatching +Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref UMLS:C4546282 semapv:UnspecifiedMatching +Orphanet:623789 Body integrity dysphoria oboInOwl:hasDbXref icd11:6C21 semapv:UnspecifiedMatching +Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref MESH:C000629404 semapv:UnspecifiedMatching +Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref MedDRA:10082097 semapv:UnspecifiedMatching +Orphanet:623801 Acute flaccid myelitis oboInOwl:hasDbXref UMLS:C4290000 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref MESH:C535816 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref MedDRA:10067193 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref OMIM:163000 semapv:UnspecifiedMatching +Orphanet:624 Familial multiple nevi flammei oboInOwl:hasDbXref UMLS:C2931029 semapv:UnspecifiedMatching +Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies oboInOwl:hasDbXref UMLS:C5680408 semapv:UnspecifiedMatching +Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies oboInOwl:hasDbXref UMLS:C5680409 semapv:UnspecifiedMatching +Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref UMLS:C5680406 semapv:UnspecifiedMatching +Orphanet:624190 Paraneoplastic isolated brainstem encephalitis oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies oboInOwl:hasDbXref UMLS:C5680405 semapv:UnspecifiedMatching +Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies oboInOwl:hasDbXref UMLS:C5680407 semapv:UnspecifiedMatching +Orphanet:624244 Postinfectious cerebellitis oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:624244 Postinfectious cerebellitis oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:624244 Postinfectious cerebellitis oboInOwl:hasDbXref UMLS:C5575321 semapv:UnspecifiedMatching +Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies oboInOwl:hasDbXref UMLS:C5680404 semapv:UnspecifiedMatching +Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref UMLS:C5576703 semapv:UnspecifiedMatching +Orphanet:625 NON RARE IN EUROPE: Atypical mole oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching +Orphanet:625 NON RARE IN EUROPE: Atypical mole oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching +Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref ICD10:D22.9 semapv:UnspecifiedMatching +Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref ICD10:D22.9 semapv:UnspecifiedMatching +Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref MedDRA:10072036 semapv:UnspecifiedMatching +Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 semapv:UnspecifiedMatching +Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1842036 semapv:UnspecifiedMatching +Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref icd11:2F20.20 semapv:UnspecifiedMatching +Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref MESH:C538336 semapv:UnspecifiedMatching +Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref OMIM:302350 semapv:UnspecifiedMatching +Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref UMLS:C0796085 semapv:UnspecifiedMatching +Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref ICD10:Q77.5 semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref MESH:C536170 semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref MedDRA:10081228 semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching +Orphanet:628 Diastrophic dysplasia oboInOwl:hasDbXref UMLS:C0220726 semapv:UnspecifiedMatching +Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref MESH:C537505 semapv:UnspecifiedMatching +Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref OMIM:262650 semapv:UnspecifiedMatching +Orphanet:629 Short stature due to growth hormone qualitative anomaly oboInOwl:hasDbXref UMLS:C1849779 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref MESH:D009394 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref MedDRA:10001843 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching +Orphanet:63 Alport syndrome oboInOwl:hasDbXref UMLS:C1567741 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref MedDRA:10035083 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:262650 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching +Orphanet:631 Non-acquired isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C5679572 semapv:UnspecifiedMatching +Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref OMIM:618418 semapv:UnspecifiedMatching +Orphanet:631068 Autosomal dominant spastic paraplegia type 80 oboInOwl:hasDbXref UMLS:C5193084 semapv:UnspecifiedMatching +Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref OMIM:618770 semapv:UnspecifiedMatching +Orphanet:631073 Autosomal recessive spastic paraplegia type 82 oboInOwl:hasDbXref UMLS:C5394037 semapv:UnspecifiedMatching +Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref OMIM:619027 semapv:UnspecifiedMatching +Orphanet:631076 Autosomal recessive spastic paraplegia type 83 oboInOwl:hasDbXref UMLS:C5436637 semapv:UnspecifiedMatching +Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref OMIM:619621 semapv:UnspecifiedMatching +Orphanet:631079 Autosomal recessive spastic paraplegia type 84 oboInOwl:hasDbXref UMLS:C5562025 semapv:UnspecifiedMatching +Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref OMIM:619686 semapv:UnspecifiedMatching +Orphanet:631082 Autosomal recessive spastic paraplegia type 85 oboInOwl:hasDbXref UMLS:C5562053 semapv:UnspecifiedMatching +Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref OMIM:619735 semapv:UnspecifiedMatching +Orphanet:631085 Autosomal recessive spastic paraplegia type 86 oboInOwl:hasDbXref UMLS:C5676910 semapv:UnspecifiedMatching +Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631088 Autosomal recessive spastic paraplegia type 87 oboInOwl:hasDbXref UMLS:C5774182 semapv:UnspecifiedMatching +Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref OMIM:617691 semapv:UnspecifiedMatching +Orphanet:631095 Spinocerebellar ataxia type 44 oboInOwl:hasDbXref UMLS:C4521563 semapv:UnspecifiedMatching +Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref OMIM:618093 semapv:UnspecifiedMatching +Orphanet:631103 Spinocerebellar ataxia type 48 oboInOwl:hasDbXref UMLS:C4748158 semapv:UnspecifiedMatching +Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref OMIM:619806 semapv:UnspecifiedMatching +Orphanet:631106 Spinocerebellar ataxia type 49 oboInOwl:hasDbXref UMLS:C5676950 semapv:UnspecifiedMatching +Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref OMIM:618960 semapv:UnspecifiedMatching +Orphanet:631248 Mitchell Syndrome oboInOwl:hasDbXref UMLS:C5394554 semapv:UnspecifiedMatching +Orphanet:631251 Cancer of unknown primary site oboInOwl:hasDbXref ICD10:C80.0 semapv:UnspecifiedMatching +Orphanet:631251 Cancer of unknown primary site oboInOwl:hasDbXref ICD10:C80.0 semapv:UnspecifiedMatching +Orphanet:631251 Cancer of unknown primary site oboInOwl:hasDbXref UMLS:C0027667 semapv:UnspecifiedMatching +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C0472813 semapv:UnspecifiedMatching +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching +Orphanet:63259 Iniencephaly oboInOwl:hasDbXref ICD10:Q00.2 semapv:UnspecifiedMatching +Orphanet:63259 Iniencephaly oboInOwl:hasDbXref MedDRA:10022034 semapv:UnspecifiedMatching +Orphanet:63259 Iniencephaly oboInOwl:hasDbXref UMLS:C0152234 semapv:UnspecifiedMatching +Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref ICD10:Q00.1 semapv:UnspecifiedMatching +Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref MedDRA:10011321 semapv:UnspecifiedMatching +Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref UMLS:C0152426 semapv:UnspecifiedMatching +Orphanet:63260 Craniorachischisis oboInOwl:hasDbXref icd11:LA00.00 semapv:UnspecifiedMatching +Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619297 semapv:UnspecifiedMatching +Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5543317 semapv:UnspecifiedMatching +Orphanet:63261 HERNS syndrome oboInOwl:hasDbXref ICD10:I67.3 semapv:UnspecifiedMatching +Orphanet:63261 HERNS syndrome oboInOwl:hasDbXref ICD10:I67.3 semapv:UnspecifiedMatching +Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref OMIM:201750 semapv:UnspecifiedMatching +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref OMIM:614065 semapv:UnspecifiedMatching +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref UMLS:C4518807 semapv:UnspecifiedMatching +Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching +Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 semapv:UnspecifiedMatching +Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref MedDRA:10019939 semapv:UnspecifiedMatching +Orphanet:63275 Pemphigoid gestationis oboInOwl:hasDbXref UMLS:C0019343 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref MESH:D046150 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref MedDRA:10075492 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref OMIM:262500 semapv:UnspecifiedMatching +Orphanet:633 Laron syndrome oboInOwl:hasDbXref UMLS:C0271568 semapv:UnspecifiedMatching +Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref OMIM:618846 semapv:UnspecifiedMatching +Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref UMLS:C5394263 semapv:UnspecifiedMatching +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619080 semapv:UnspecifiedMatching +Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619083 semapv:UnspecifiedMatching +Orphanet:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref OMIM:619255 semapv:UnspecifiedMatching +Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref UMLS:C5543241 semapv:UnspecifiedMatching +Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching +Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref OMIM:619859 semapv:UnspecifiedMatching +Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref UMLS:C1291561 semapv:UnspecifiedMatching +Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:633228 Proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref MESH:D056770 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref MedDRA:10062909 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref OMIM:256500 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref UMLS:C5574950 semapv:UnspecifiedMatching +Orphanet:634 Netherton syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref MESH:C536361 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref MedDRA:10066017 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref OMIM:105835 semapv:UnspecifiedMatching +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia oboInOwl:hasDbXref UMLS:C1739384 semapv:UnspecifiedMatching +Orphanet:63443 Rare epithelial tumor of stomach oboInOwl:hasDbXref MedDRA:10017758 semapv:UnspecifiedMatching +Orphanet:63443 Rare epithelial tumor of stomach oboInOwl:hasDbXref UMLS:C5680118 semapv:UnspecifiedMatching +Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref MESH:C564334 semapv:UnspecifiedMatching +Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref OMIM:607778 semapv:UnspecifiedMatching +Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref UMLS:C1843096 semapv:UnspecifiedMatching +Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634492 Mosaic schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634492 Mosaic schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:63454 Pattern dystrophy oboInOwl:hasDbXref MESH:C536309 semapv:UnspecifiedMatching +Orphanet:63454 Pattern dystrophy oboInOwl:hasDbXref UMLS:C1868569 semapv:UnspecifiedMatching +Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching +Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref MedDRA:10057056 semapv:UnspecifiedMatching +Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref UMLS:C1112570 semapv:UnspecifiedMatching +Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref icd11:EB40.2 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref ICD10:C74.9 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref ICD10:C74.9 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref MESH:D009447 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref MedDRA:10029260 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:256700 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613013 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613014 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613015 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613016 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:613017 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref OMIM:616792 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref UMLS:C0027819 semapv:UnspecifiedMatching +Orphanet:635 Neuroblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MESH:D009456 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref MedDRA:10029270 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching +Orphanet:636 Neurofibromatosis type 1 oboInOwl:hasDbXref UMLS:C0027831 semapv:UnspecifiedMatching +Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:618343 semapv:UnspecifiedMatching +Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref UMLS:C5193159 semapv:UnspecifiedMatching +Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching +Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching +Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref MESH:C536777 semapv:UnspecifiedMatching +Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref UMLS:C0153252 semapv:UnspecifiedMatching +Orphanet:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref ICD10:H40.4 semapv:UnspecifiedMatching +Orphanet:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref ICD10:H40.4 semapv:UnspecifiedMatching +Orphanet:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref UMLS:C0152138 semapv:UnspecifiedMatching +Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.3 semapv:UnspecifiedMatching +Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.3 semapv:UnspecifiedMatching +Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263314 semapv:UnspecifiedMatching +Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref icd11:EB40.1 semapv:UnspecifiedMatching +Orphanet:636965 Autosomal dominant myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:636965 Autosomal dominant myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:636965 Autosomal dominant myosin storage myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching +Orphanet:636965 Autosomal dominant myosin storage myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:636970 Autosomal recessive myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:636970 Autosomal recessive myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching +Orphanet:636970 Autosomal recessive myosin storage myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching +Orphanet:636970 Autosomal recessive myosin storage myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MESH:D016518 semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching +Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref UMLS:C0027832 semapv:UnspecifiedMatching +Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619293 semapv:UnspecifiedMatching +Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching +Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref MESH:C563492 semapv:UnspecifiedMatching +Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C4510723 semapv:UnspecifiedMatching +Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref icd11:LA13.70 semapv:UnspecifiedMatching +Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref icd11:LA13.71 semapv:UnspecifiedMatching +Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching +Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching +Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS:C2931482 semapv:UnspecifiedMatching +Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:63862 Schisis association oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:63862 Schisis association oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:63862 Schisis association oboInOwl:hasDbXref MESH:C536633 semapv:UnspecifiedMatching +Orphanet:63862 Schisis association oboInOwl:hasDbXref UMLS:C2931271 semapv:UnspecifiedMatching +Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG oboInOwl:hasDbXref UMLS:C1736154 semapv:UnspecifiedMatching +Orphanet:63999 IgG4-related mediastinitis oboInOwl:hasDbXref ICD10:J98.5 semapv:UnspecifiedMatching +Orphanet:63999 IgG4-related mediastinitis oboInOwl:hasDbXref ICD10:J98.5 semapv:UnspecifiedMatching +Orphanet:63999 IgG4-related mediastinitis oboInOwl:hasDbXref MESH:C536136 semapv:UnspecifiedMatching +Orphanet:63999 IgG4-related mediastinitis oboInOwl:hasDbXref MedDRA:10027074 semapv:UnspecifiedMatching +Orphanet:63999 IgG4-related mediastinitis oboInOwl:hasDbXref UMLS:C0264573 semapv:UnspecifiedMatching +Orphanet:63999 IgG4-related mediastinitis oboInOwl:hasDbXref icd11:CB22.0 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref MESH:D056769 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref MedDRA:10068783 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref OMIM:203800 semapv:UnspecifiedMatching +Orphanet:64 Alström syndrome oboInOwl:hasDbXref UMLS:C0268425 semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MESH:C536965 semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MedDRA:10069382 semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref OMIM:162500 semapv:UnspecifiedMatching +Orphanet:640 Hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS:C0393814 semapv:UnspecifiedMatching +Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref MedDRA:10065579 semapv:UnspecifiedMatching +Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref UMLS:C0393847 semapv:UnspecifiedMatching +Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching +Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome oboInOwl:hasDbXref OMIM:619026 semapv:UnspecifiedMatching +Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref OMIM:619576 semapv:UnspecifiedMatching +Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref UMLS:C5562005 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:618282 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching +Orphanet:641380 PAPASH syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:641385 PASS syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:641390 PsAPASH syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.0+ semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.1+ semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.8+ semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.8+ semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G01* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G05.0* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G05.0* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G63.0* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref UMLS:C0275904 semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref icd11:1B11 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref UMLS:C0036346 semapv:UnspecifiedMatching +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 semapv:UnspecifiedMatching +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref UMLS:C0020074 semapv:UnspecifiedMatching +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref icd11:8C21.2 semapv:UnspecifiedMatching +Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref OMIM:618395 semapv:UnspecifiedMatching +Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref UMLS:C5193073 semapv:UnspecifiedMatching +Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref OMIM:271640 semapv:UnspecifiedMatching +Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref UMLS:C4017377 semapv:UnspecifiedMatching +Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:642671 Familial hyperaldosteronism type IV oboInOwl:hasDbXref OMIM:617027 semapv:UnspecifiedMatching +Orphanet:642671 Familial hyperaldosteronism type IV oboInOwl:hasDbXref UMLS:C3554373 semapv:UnspecifiedMatching +Orphanet:642675 CHD8 overgrowth syndrome oboInOwl:hasDbXref OMIM:615032 semapv:UnspecifiedMatching +Orphanet:642691 Fragile X-associated primary ovarian insufficiency oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching +Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref OMIM:617931 semapv:UnspecifiedMatching +Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref OMIM:617537 semapv:UnspecifiedMatching +Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref UMLS:C4479637 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:600131 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:607681 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611136 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611942 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:612269 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref UMLS:C4281785 semapv:UnspecifiedMatching +Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref icd11:8A61.21 semapv:UnspecifiedMatching +Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref MESH:D056768 semapv:UnspecifiedMatching +Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref OMIM:256850 semapv:UnspecifiedMatching +Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref UMLS:C5200933 semapv:UnspecifiedMatching +Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref OMIM:617602 semapv:UnspecifiedMatching +Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref UMLS:C4539857 semapv:UnspecifiedMatching +Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching +Orphanet:643549 Hao-Fountain syndrome oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching +Orphanet:643549 Hao-Fountain syndrome oboInOwl:hasDbXref UMLS:C5393908 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref MESH:C537396 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref MedDRA:10062940 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching +Orphanet:644 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 semapv:UnspecifiedMatching +Orphanet:645188 Spinal dermal sinus oboInOwl:hasDbXref UMLS:C0011599 semapv:UnspecifiedMatching +Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref MedDRA:10041525 semapv:UnspecifiedMatching +Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref UMLS:C0080174 semapv:UnspecifiedMatching +Orphanet:645276 Spinal cord lipoma oboInOwl:hasDbXref UMLS:C0347446 semapv:UnspecifiedMatching +Orphanet:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref UMLS:C4751188 semapv:UnspecifiedMatching +Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref MedDRA:10086467 semapv:UnspecifiedMatching +Orphanet:645398 Myeloschisis oboInOwl:hasDbXref UMLS:C0266507 semapv:UnspecifiedMatching +Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref UMLS:C4304094 semapv:UnspecifiedMatching +Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref UMLS:C5575230 semapv:UnspecifiedMatching +Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching +Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref icd11:4A41.0 semapv:UnspecifiedMatching +Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref icd11:4A41.0 semapv:UnspecifiedMatching +Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref MedDRA:10010564 semapv:UnspecifiedMatching +Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref UMLS:C1963580 semapv:UnspecifiedMatching +Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref icd11:LB12.3 semapv:UnspecifiedMatching +Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref UMLS:C3897004 semapv:UnspecifiedMatching +Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching +Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching +Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref UMLS:C0041316 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.0 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.1 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.2 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.3 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.3 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.4 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.4 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.5 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.5 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.6 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.6 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.7 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.7 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.8 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.8 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.0 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.1 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.2 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.2 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.3 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.3 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.4 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.4 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.5 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.5 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.7 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.7 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.8 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.8 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref UMLS:C0041327 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref icd11:1B10 semapv:UnspecifiedMatching +Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref ICD10:A18.0, semapv:UnspecifiedMatching +Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref UMLS:C0041324 semapv:UnspecifiedMatching +Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching +Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching +Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref UMLS:C0041309 semapv:UnspecifiedMatching +Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref icd11:1B12.8 semapv:UnspecifiedMatching +Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref ICD10:A18.8 semapv:UnspecifiedMatching +Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref ICD10:A18.8 semapv:UnspecifiedMatching +Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref icd11:1B12.Y semapv:UnspecifiedMatching +Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref ICD10:A18.3 semapv:UnspecifiedMatching +Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref ICD10:A18.3 semapv:UnspecifiedMatching +Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref UMLS:C4543803 semapv:UnspecifiedMatching +Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref icd11:1B12.7 semapv:UnspecifiedMatching +Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching +Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching +Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref UMLS:C0041333 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref MESH:D052556 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:257220 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref OMIM:607625 semapv:UnspecifiedMatching +Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref UMLS:C0220756 semapv:UnspecifiedMatching +Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching +Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type oboInOwl:hasDbXref OMIM:601356 semapv:UnspecifiedMatching +Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref UMLS:C5190839 semapv:UnspecifiedMatching +Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching +Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4479246 semapv:UnspecifiedMatching +Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching +Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:D020333 semapv:UnspecifiedMatching +Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MedDRA:10051526 semapv:UnspecifiedMatching +Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref UMLS:C0040381 semapv:UnspecifiedMatching +Orphanet:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching +Orphanet:64692 Oroya fever oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching +Orphanet:64692 Oroya fever oboInOwl:hasDbXref UMLS:C0029307 semapv:UnspecifiedMatching +Orphanet:64692 Oroya fever oboInOwl:hasDbXref icd11:1C11.00 semapv:UnspecifiedMatching +Orphanet:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 semapv:UnspecifiedMatching +Orphanet:64694 Trench fever oboInOwl:hasDbXref MESH:D014205 semapv:UnspecifiedMatching +Orphanet:64694 Trench fever oboInOwl:hasDbXref MedDRA:10044582 semapv:UnspecifiedMatching +Orphanet:64694 Trench fever oboInOwl:hasDbXref UMLS:C0040830 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref MedDRA:10067857 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS:C0398791 semapv:UnspecifiedMatching +Orphanet:647 Nijmegen breakage syndrome oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching +Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching +Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref MedDRA:10024189 semapv:UnspecifiedMatching +Orphanet:64720 Leiomyosarcoma oboInOwl:hasDbXref UMLS:C0023269 semapv:UnspecifiedMatching +Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref ICD10:N61 semapv:UnspecifiedMatching +Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref MESH:D058890 semapv:UnspecifiedMatching +Orphanet:64722 Granulomatous mastitis oboInOwl:hasDbXref UMLS:C0405469 semapv:UnspecifiedMatching +Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref ICD10:H21.1 semapv:UnspecifiedMatching +Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref ICD10:H21.1 semapv:UnspecifiedMatching +Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MESH:D057129 semapv:UnspecifiedMatching +Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref MedDRA:10053678 semapv:UnspecifiedMatching +Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref UMLS:C1096100 semapv:UnspecifiedMatching +Orphanet:64734 Iridocorneal endothelial syndrome oboInOwl:hasDbXref icd11:LA11.Y semapv:UnspecifiedMatching +Orphanet:64738 NON RARE IN EUROPE: Non rare thrombophilia oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:64738 NON RARE IN EUROPE: Non rare thrombophilia oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref ICD10:N98.1 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref ICD10:N98.1 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MedDRA:10033266 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 semapv:UnspecifiedMatching +Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref icd11:GA32.0 semapv:UnspecifiedMatching +Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis oboInOwl:hasDbXref ICD10:K85 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref MESH:D018202 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref UMLS:C0206629 semapv:UnspecifiedMatching +Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref MESH:C537516 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref MedDRA:10080682 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref UMLS:C1266144 semapv:UnspecifiedMatching +Orphanet:64742 Pleuropulmonary blastoma oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:64743 Hepatoportal sclerosis oboInOwl:hasDbXref ICD10:K74.1 semapv:UnspecifiedMatching +Orphanet:64743 Hepatoportal sclerosis oboInOwl:hasDbXref ICD10:K74.1 semapv:UnspecifiedMatching +Orphanet:64743 Hepatoportal sclerosis oboInOwl:hasDbXref UMLS:C4273756 semapv:UnspecifiedMatching +Orphanet:64744 IgG4-related thyroid disease oboInOwl:hasDbXref ICD10:E06.5 semapv:UnspecifiedMatching +Orphanet:64744 IgG4-related thyroid disease oboInOwl:hasDbXref ICD10:E06.5 semapv:UnspecifiedMatching +Orphanet:64744 IgG4-related thyroid disease oboInOwl:hasDbXref MedDRA:10039142 semapv:UnspecifiedMatching +Orphanet:64744 IgG4-related thyroid disease oboInOwl:hasDbXref UMLS:C0154162 semapv:UnspecifiedMatching +Orphanet:64744 IgG4-related thyroid disease oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref ICD10:O26.8 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref ICD10:O26.8 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MESH:C535817 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref MedDRA:10066100 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref OMIM:178995 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref UMLS:C0269680 semapv:UnspecifiedMatching +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref icd11:JA65.12 semapv:UnspecifiedMatching +Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C5548211 semapv:UnspecifiedMatching +Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:64747 X-linked Charcot-Marie-Tooth disease oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:145900 semapv:UnspecifiedMatching +Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref OMIM:618184 semapv:UnspecifiedMatching +Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref UMLS:C0011195 semapv:UnspecifiedMatching +Orphanet:64749 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref UMLS:C4082197 semapv:UnspecifiedMatching +Orphanet:64749 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref OMIM:600361 semapv:UnspecifiedMatching +Orphanet:64751 Hereditary motor and sensory neuropathy type 5 oboInOwl:hasDbXref UMLS:C4721916 semapv:UnspecifiedMatching +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 semapv:UnspecifiedMatching +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0020075 semapv:UnspecifiedMatching +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref icd11:8C21.3 semapv:UnspecifiedMatching +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:606002 semapv:UnspecifiedMatching +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 oboInOwl:hasDbXref OMIM:615217 semapv:UnspecifiedMatching +Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref OMIM:617025 semapv:UnspecifiedMatching +Orphanet:64754 Nevus comedonicus syndrome oboInOwl:hasDbXref UMLS:C0265987 semapv:UnspecifiedMatching +Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching +Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref ICD10:D22.5 semapv:UnspecifiedMatching +Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref MESH:C565735 semapv:UnspecifiedMatching +Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref OMIM:604919 semapv:UnspecifiedMatching +Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref UMLS:C1858042 semapv:UnspecifiedMatching +Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref OMIM:619127 semapv:UnspecifiedMatching +Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref UMLS:C5436867 semapv:UnspecifiedMatching +Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref OMIM:617719 semapv:UnspecifiedMatching +Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref UMLS:C4540251 semapv:UnspecifiedMatching +Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching +Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref UMLS:C3806917 semapv:UnspecifiedMatching +Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C4304832 semapv:UnspecifiedMatching +Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref OMIM:617804 semapv:UnspecifiedMatching +Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref UMLS:C4540496 semapv:UnspecifiedMatching +Orphanet:647794 Isolated persistent urogenital sinus oboInOwl:hasDbXref UMLS:C0266363 semapv:UnspecifiedMatching +Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching +Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref UMLS:C4225296 semapv:UnspecifiedMatching +Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref OMIM:619164 semapv:UnspecifiedMatching +Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref UMLS:C5543004 semapv:UnspecifiedMatching +Orphanet:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref OMIM:618280 semapv:UnspecifiedMatching +Orphanet:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref UMLS:C4748946 semapv:UnspecifiedMatching +Orphanet:647815 Keratoendotheliitis fugax hereditaria oboInOwl:hasDbXref OMIM:148200 semapv:UnspecifiedMatching +Orphanet:647815 Keratoendotheliitis fugax hereditaria oboInOwl:hasDbXref UMLS:C1835697 semapv:UnspecifiedMatching +Orphanet:647823 Idiopathic pregnancy-associated osteoporosis oboInOwl:hasDbXref UMLS:C0410439 semapv:UnspecifiedMatching +Orphanet:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching +Orphanet:647916 Conjoined twins oboInOwl:hasDbXref MedDRA:10010688 semapv:UnspecifiedMatching +Orphanet:647916 Conjoined twins oboInOwl:hasDbXref UMLS:C0041428 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref MedDRA:10029748 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:163950 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:605275 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:609942 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:610733 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:611553 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:613224 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:613706 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:615355 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:616559 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:616564 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:618499 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:618624 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:619087 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref OMIM:619745 semapv:UnspecifiedMatching +Orphanet:648 Noonan syndrome oboInOwl:hasDbXref UMLS:C0028326 semapv:UnspecifiedMatching +Orphanet:648562 Ferroportin disease oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching +Orphanet:648581 Digenic hemochromatosis oboInOwl:hasDbXref UMLS:C3150862 semapv:UnspecifiedMatching +Orphanet:648681 Immune-mediated scleritis oboInOwl:hasDbXref MedDRA:10087281 semapv:UnspecifiedMatching +Orphanet:648684 Central retinal artery occlusion oboInOwl:hasDbXref UMLS:C0007688 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref MedDRA:10069760 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching +Orphanet:649 Norrie disease oboInOwl:hasDbXref UMLS:C0266526 semapv:UnspecifiedMatching +Orphanet:649029 Isolated left bronchial isomerism oboInOwl:hasDbXref UMLS:C3164781 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref MESH:D057130 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref MedDRA:10070667 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:179900 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:204000 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:204100 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:604537 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:608553 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:610612 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:611755 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:612712 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613826 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613829 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613835 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613837 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:613843 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:614186 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:615360 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref OMIM:618513 semapv:UnspecifiedMatching +Orphanet:65 Leber congenital amaurosis oboInOwl:hasDbXref UMLS:C0339527 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref MESH:D007863 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref MedDRA:10077917 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref OMIM:136120 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching +Orphanet:650 LCAT deficiency oboInOwl:hasDbXref UMLS:C0023195 semapv:UnspecifiedMatching +Orphanet:650097 Genetic central precocious puberty in male oboInOwl:hasDbXref OMIM:176400 semapv:UnspecifiedMatching +Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus oboInOwl:hasDbXref ICD10:H81.1 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MedDRA:10028190 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS:C0025267 semapv:UnspecifiedMatching +Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oboInOwl:hasDbXref OMIM:620439 semapv:UnspecifiedMatching +Orphanet:65250 Perineural cyst oboInOwl:hasDbXref MESH:D052958 semapv:UnspecifiedMatching +Orphanet:65250 Perineural cyst oboInOwl:hasDbXref UMLS:C0520720 semapv:UnspecifiedMatching +Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation oboInOwl:hasDbXref OMIM:600987 semapv:UnspecifiedMatching +Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:150550 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref MESH:C535581 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:605676 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref OMIM:615821 semapv:UnspecifiedMatching +Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref UMLS:C1854063 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref ICD10:I49.8 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref MESH:C536962 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref MedDRA:10079205 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref OMIM:601005 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching +Orphanet:65283 Timothy syndrome oboInOwl:hasDbXref UMLS:C1832916 semapv:UnspecifiedMatching +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref MESH:C537658 semapv:UnspecifiedMatching +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease oboInOwl:hasDbXref UMLS:C1843807 semapv:UnspecifiedMatching +Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching +Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref UMLS:C0391826 semapv:UnspecifiedMatching +Orphanet:65285 Lhermitte-Duclos disease oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching +Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref MESH:C567184 semapv:UnspecifiedMatching +Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref OMIM:609425 semapv:UnspecifiedMatching +Orphanet:65286 3q29 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2674949 semapv:UnspecifiedMatching +Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref MESH:C563210 semapv:UnspecifiedMatching +Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref OMIM:613161 semapv:UnspecifiedMatching +Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref UMLS:C1291512 semapv:UnspecifiedMatching +Orphanet:65287 Beta-ureidopropionase deficiency oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref MESH:C563796 semapv:UnspecifiedMatching +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref OMIM:609069 semapv:UnspecifiedMatching +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome oboInOwl:hasDbXref UMLS:C1836780 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref MedDRA:10028191 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:155240 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref UMLS:C4048306 semapv:UnspecifiedMatching +Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:653709 Cone rod dystrophy-short stature syndrome oboInOwl:hasDbXref OMIM:617547 semapv:UnspecifiedMatching +Orphanet:653712 CHD4-related neurodevelopmental disorder oboInOwl:hasDbXref OMIM:617159 semapv:UnspecifiedMatching +Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 oboInOwl:hasDbXref OMIM:620375 semapv:UnspecifiedMatching +Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency oboInOwl:hasDbXref OMIM:301082 semapv:UnspecifiedMatching +Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref OMIM:616277 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref MESH:D009396 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref MedDRA:10029145 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194070 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194071 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:194090 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601363 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:601583 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref OMIM:616806 semapv:UnspecifiedMatching +Orphanet:654 Nephroblastoma oboInOwl:hasDbXref UMLS:C0027708 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:604387 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:606966 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:611498 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613159 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613820 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:613824 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:614377 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:615862 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching +Orphanet:655 Nephronophthisis oboInOwl:hasDbXref UMLS:C0687120 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:256370 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:301028 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:600995 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:603278 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:603965 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:607832 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:610725 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:612551 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:613237 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:614131 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:614196 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615244 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615573 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:615861 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616002 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616032 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616220 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616730 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616892 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:616893 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618176 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618177 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:618178 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619155 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619201 semapv:UnspecifiedMatching +Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C4273714 semapv:UnspecifiedMatching +Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome oboInOwl:hasDbXref OMIM:617641 semapv:UnspecifiedMatching +Orphanet:656135 Intellectual disability-cupped ears syndrome oboInOwl:hasDbXref OMIM:618604 semapv:UnspecifiedMatching +Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching +Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency oboInOwl:hasDbXref OMIM:619751 semapv:UnspecifiedMatching +Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref OMIM:618523 semapv:UnspecifiedMatching +Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref OMIM:619752 semapv:UnspecifiedMatching +Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency oboInOwl:hasDbXref OMIM:618944 semapv:UnspecifiedMatching +Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching +Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching +Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref MedDRA:10046879 semapv:UnspecifiedMatching +Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref UMLS:C1321884 semapv:UnspecifiedMatching +Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref icd11:LB42.5 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref MedDRA:10087038 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0149841 semapv:UnspecifiedMatching +Orphanet:65682 Benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref icd11:5C58.04 semapv:UnspecifiedMatching +Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref OMIM:607341 semapv:UnspecifiedMatching +Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref UMLS:C4707795 semapv:UnspecifiedMatching +Orphanet:65683 Isolated focal cortical dysplasia oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref MESH:C538253 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref MedDRA:10069681 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref OMIM:602440 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref UMLS:C1865384 semapv:UnspecifiedMatching +Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref icd11:8B60.6 semapv:UnspecifiedMatching +Orphanet:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref MESH:D044903 semapv:UnspecifiedMatching +Orphanet:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref UMLS:C3888018 semapv:UnspecifiedMatching +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref MESH:C563791 semapv:UnspecifiedMatching +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref OMIM:609128 semapv:UnspecifiedMatching +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref UMLS:C1836756 semapv:UnspecifiedMatching +Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref MESH:C566739 semapv:UnspecifiedMatching +Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref OMIM:178110 semapv:UnspecifiedMatching +Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C1867440 semapv:UnspecifiedMatching +Orphanet:65743 Autosomal dominant multiple pterygium syndrome oboInOwl:hasDbXref icd11:LD26.40 semapv:UnspecifiedMatching +Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref ICD10:D48.5 semapv:UnspecifiedMatching +Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref ICD10:D48.5 semapv:UnspecifiedMatching +Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref OMIM:132800 semapv:UnspecifiedMatching +Orphanet:65748 Multiple self-healing squamous epithelioma oboInOwl:hasDbXref UMLS:C0546476 semapv:UnspecifiedMatching +Orphanet:65753 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref UMLS:C0751036 semapv:UnspecifiedMatching +Orphanet:65753 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref MESH:C563187 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref MedDRA:10081310 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref OMIM:201000 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref OMIM:614976 semapv:UnspecifiedMatching +Orphanet:65759 Carpenter syndrome oboInOwl:hasDbXref UMLS:C1275078 semapv:UnspecifiedMatching +Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref OMIM:201020 semapv:UnspecifiedMatching +Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref UMLS:C0265303 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MedDRA:10068842 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:300918 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:614594 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:619208 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref UMLS:C0406761 semapv:UnspecifiedMatching +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref MedDRA:10030308 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref OMIM:310980 semapv:UnspecifiedMatching +Orphanet:660 Omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref MESH:C536209 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref MedDRA:10066131 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:209880 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:619482 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:619483 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref UMLS:C1275808 semapv:UnspecifiedMatching +Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref icd11:7A42.1 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref ICD10:L60.5 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref ICD10:L60.5 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MESH:D056684 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MedDRA:10048244 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 semapv:UnspecifiedMatching +Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 semapv:UnspecifiedMatching +Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching +Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MedDRA:10052450 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref OMIM:311250 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref UMLS:C0268542 semapv:UnspecifiedMatching +Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching +Orphanet:665 Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C2931404 semapv:UnspecifiedMatching +Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref UMLS:C4303621 semapv:UnspecifiedMatching +Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref ICD10:I42.8 semapv:UnspecifiedMatching +Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref MESH:D054549 semapv:UnspecifiedMatching +Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref MedDRA:10066286 semapv:UnspecifiedMatching +Orphanet:66529 Tako-Tsubo cardiomyopathy oboInOwl:hasDbXref UMLS:C1739395 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref ICD10:Q78.0 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref MedDRA:10031243 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613848 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:614856 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:615066 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:616229 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:616507 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:619131 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref OMIM:619795 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0029434 semapv:UnspecifiedMatching +Orphanet:666 Osteogenesis imperfecta oboInOwl:hasDbXref icd11:LD24.K0 semapv:UnspecifiedMatching +Orphanet:66624 PANDAS oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:66624 PANDAS oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:66624 PANDAS oboInOwl:hasDbXref MESH:C537163 semapv:UnspecifiedMatching +Orphanet:66624 PANDAS oboInOwl:hasDbXref UMLS:C2931429 semapv:UnspecifiedMatching +Orphanet:66624 PANDAS oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref MESH:C565313 semapv:UnspecifiedMatching +Orphanet:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref OMIM:605627 semapv:UnspecifiedMatching +Orphanet:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref UMLS:C1854108 semapv:UnspecifiedMatching +Orphanet:66625 Cerebrooculonasal syndrome oboInOwl:hasDbXref icd11:LD20.Y semapv:UnspecifiedMatching +Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref ICD10:M12.2 semapv:UnspecifiedMatching +Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref ICD10:M12.2 semapv:UnspecifiedMatching +Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref MESH:D000070779 semapv:UnspecifiedMatching +Orphanet:66627 Tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS:C1318543 semapv:UnspecifiedMatching +Orphanet:66628 Obesity due to congenital leptin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:66628 Obesity due to congenital leptin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:66628 Obesity due to congenital leptin deficiency oboInOwl:hasDbXref OMIM:614962 semapv:UnspecifiedMatching +Orphanet:66628 Obesity due to congenital leptin deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref MESH:C537279 semapv:UnspecifiedMatching +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref OMIM:609460 semapv:UnspecifiedMatching +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref UMLS:C1836123 semapv:UnspecifiedMatching +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref MESH:C562548 semapv:UnspecifiedMatching +Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref OMIM:118980 semapv:UnspecifiedMatching +Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref UMLS:C0265565 semapv:UnspecifiedMatching +Orphanet:66630 Congenital pseudoarthrosis of the clavicle oboInOwl:hasDbXref icd11:LB72.Y semapv:UnspecifiedMatching +Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref MESH:C537943 semapv:UnspecifiedMatching +Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref OMIM:609528 semapv:UnspecifiedMatching +Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836033 semapv:UnspecifiedMatching +Orphanet:66631 CEDNIK syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome oboInOwl:hasDbXref UMLS:C4510044 semapv:UnspecifiedMatching +Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref MESH:C565706 semapv:UnspecifiedMatching +Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref OMIM:610198 semapv:UnspecifiedMatching +Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref UMLS:C1857776 semapv:UnspecifiedMatching +Orphanet:66634 Dilated cardiomyopathy with ataxia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref MESH:C564305 semapv:UnspecifiedMatching +Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref OMIM:608022 semapv:UnspecifiedMatching +Orphanet:66637 Diaphanospondylodysostosis oboInOwl:hasDbXref UMLS:C1842691 semapv:UnspecifiedMatching +Orphanet:66646 Cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching +Orphanet:66646 Cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C1136033 semapv:UnspecifiedMatching +Orphanet:66646 Cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.1 semapv:UnspecifiedMatching +Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref MESH:D012515 semapv:UnspecifiedMatching +Orphanet:66661 Mast cell sarcoma oboInOwl:hasDbXref UMLS:C0036221 semapv:UnspecifiedMatching +Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:66662 Extracutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0272202 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:259700 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:259710 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:611490 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:615085 semapv:UnspecifiedMatching +Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref UMLS:C1318518 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref MESH:D012516 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref MedDRA:10031291 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref OMIM:259500 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref UMLS:C0029463 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.0 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.1 semapv:UnspecifiedMatching +Orphanet:668 Osteosarcoma oboInOwl:hasDbXref icd11:2B51.2 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.0 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.1 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.1 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.2 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.2 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.3 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.3 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.4 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.4 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.5 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.5 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.6 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.6 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.7 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.7 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.8 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.8 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.9 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref ICD10:A06.9 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref MESH:C531613 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref UMLS:C2930799 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.01 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.10 semapv:UnspecifiedMatching +Orphanet:670 PIBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching +Orphanet:670 PIBIDS syndrome oboInOwl:hasDbXref UMLS:C1866504 semapv:UnspecifiedMatching +Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref MESH:C537128 semapv:UnspecifiedMatching +Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref OMIM:165300 semapv:UnspecifiedMatching +Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref UMLS:C1833809 semapv:UnspecifiedMatching +Orphanet:67036 Autosomal dominant optic atrophy and cataract oboInOwl:hasDbXref icd11:9C40.8 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.1 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.1 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MESH:D015451 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref MedDRA:10008958 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:109543 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:151400 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:609630 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612557 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612558 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612559 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023434 semapv:UnspecifiedMatching +Orphanet:67038 B-cell chronic lymphocytic leukemia oboInOwl:hasDbXref icd11:2A82.0 semapv:UnspecifiedMatching +Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching +Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching +Orphanet:67039 Segmental odontomaxillary dysplasia oboInOwl:hasDbXref UMLS:C3698531 semapv:UnspecifiedMatching +Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref MESH:C563209 semapv:UnspecifiedMatching +Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref OMIM:601492 semapv:UnspecifiedMatching +Orphanet:67041 Hyaluronidase deficiency oboInOwl:hasDbXref UMLS:C1291490 semapv:UnspecifiedMatching +Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref MESH:C565309 semapv:UnspecifiedMatching +Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref OMIM:605670 semapv:UnspecifiedMatching +Orphanet:67042 Late-onset retinal degeneration oboInOwl:hasDbXref UMLS:C1854065 semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:B60.1+ semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:B60.1+ semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref ICD10:H19.2* semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref MESH:D015823 semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref MedDRA:10069408 semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref UMLS:C0000880 semapv:UnspecifiedMatching +Orphanet:67043 Amoebic keratitis oboInOwl:hasDbXref icd11:1F50 semapv:UnspecifiedMatching +Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatching +Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C4302508 semapv:UnspecifiedMatching +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref MESH:C564712 semapv:UnspecifiedMatching +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref OMIM:300123 semapv:UnspecifiedMatching +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C1848068 semapv:UnspecifiedMatching +Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref MESH:C562801 semapv:UnspecifiedMatching +Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref OMIM:250950 semapv:UnspecifiedMatching +Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref UMLS:C0342727 semapv:UnspecifiedMatching +Orphanet:67046 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref MESH:C535311 semapv:UnspecifiedMatching +Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref OMIM:258501 semapv:UnspecifiedMatching +Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref UMLS:C0574084 semapv:UnspecifiedMatching +Orphanet:67047 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref MESH:C565393 semapv:UnspecifiedMatching +Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref OMIM:250951 semapv:UnspecifiedMatching +Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref UMLS:C1855126 semapv:UnspecifiedMatching +Orphanet:67048 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:671 Primary cutis verticis gyrata oboInOwl:hasDbXref UMLS:C0263417 semapv:UnspecifiedMatching +Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:UnspecifiedMatching +Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref OMIM:146510 semapv:UnspecifiedMatching +Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS:C0265220 semapv:UnspecifiedMatching +Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.9 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B51.9 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.9 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B52.9 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.0 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.1 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B53.8 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B54 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B54 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref MESH:D008288 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref MedDRA:10025487 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref OMIM:611162 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref UMLS:C0024530 semapv:UnspecifiedMatching +Orphanet:673 Malaria oboInOwl:hasDbXref icd11:1F40 semapv:UnspecifiedMatching +Orphanet:674 Accessory pancreas oboInOwl:hasDbXref ICD10:Q45.3 semapv:UnspecifiedMatching +Orphanet:674 Accessory pancreas oboInOwl:hasDbXref MESH:C536003 semapv:UnspecifiedMatching +Orphanet:674 Accessory pancreas oboInOwl:hasDbXref UMLS:C0266268 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref ICD10:Q45.1 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref MedDRA:10071757 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching +Orphanet:675 Annular pancreas oboInOwl:hasDbXref UMLS:C0149955 semapv:UnspecifiedMatching +Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching +Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref UMLS:C0238339 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MedDRA:10073367 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref UMLS:C0334489 semapv:UnspecifiedMatching +Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref icd11:XH27L5 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MESH:D010214 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MedDRA:10082856 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref OMIM:245000 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref UMLS:C0030360 semapv:UnspecifiedMatching +Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref MESH:D054853 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref MedDRA:10064281 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref OMIM:602248 semapv:UnspecifiedMatching +Orphanet:679 Malignant atrophic papulosis oboInOwl:hasDbXref UMLS:C0221011 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.1 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.1 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.2 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref ICD10:B60.2 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref UMLS:C5681222 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref icd11:1A36.11 semapv:UnspecifiedMatching +Orphanet:68 Amoebiasis due to free-living amoebae oboInOwl:hasDbXref icd11:1A36.12 semapv:UnspecifiedMatching +Orphanet:680 Normokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170600 semapv:UnspecifiedMatching +Orphanet:680 Normokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0268445 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref MESH:D020514 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching +Orphanet:681 Hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238358 semapv:UnspecifiedMatching +Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semapv:UnspecifiedMatching +Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 semapv:UnspecifiedMatching +Orphanet:682 Hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref MESH:D013494 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref MedDRA:10036813 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:601104 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching +Orphanet:683 Progressive supranuclear palsy oboInOwl:hasDbXref UMLS:C0038868 semapv:UnspecifiedMatching +Orphanet:68329 Rare maxillo-facial surgical disease oboInOwl:hasDbXref UMLS:C5680147 semapv:UnspecifiedMatching +Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect oboInOwl:hasDbXref UMLS:C5680146 semapv:UnspecifiedMatching +Orphanet:68335 Rare chromosomal anomaly oboInOwl:hasDbXref MESH:D002869 semapv:UnspecifiedMatching +Orphanet:68335 Rare chromosomal anomaly oboInOwl:hasDbXref UMLS:C5681313 semapv:UnspecifiedMatching +Orphanet:68336 Rare genetic tumor oboInOwl:hasDbXref UMLS:C5681311 semapv:UnspecifiedMatching +Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome oboInOwl:hasDbXref UMLS:C5681310 semapv:UnspecifiedMatching +Orphanet:68346 Rare genetic skin disease oboInOwl:hasDbXref UMLS:C5680145 semapv:UnspecifiedMatching +Orphanet:68347 Tumor of hematopoietic and lymphoid tissues oboInOwl:hasDbXref UMLS:C5681309 semapv:UnspecifiedMatching +Orphanet:68354 Rare sleep disorder oboInOwl:hasDbXref MESH:D012893 semapv:UnspecifiedMatching +Orphanet:68354 Rare sleep disorder oboInOwl:hasDbXref MedDRA:10040984 semapv:UnspecifiedMatching +Orphanet:68354 Rare sleep disorder oboInOwl:hasDbXref UMLS:C5681308 semapv:UnspecifiedMatching +Orphanet:68356 Leukodystrophy oboInOwl:hasDbXref MedDRA:10024381 semapv:UnspecifiedMatching +Orphanet:68356 Leukodystrophy oboInOwl:hasDbXref UMLS:C0023520 semapv:UnspecifiedMatching +Orphanet:68361 Rare deafness oboInOwl:hasDbXref UMLS:C5680167 semapv:UnspecifiedMatching +Orphanet:68362 Rare vascular disease oboInOwl:hasDbXref UMLS:C5681327 semapv:UnspecifiedMatching +Orphanet:68363 Rare dystonia oboInOwl:hasDbXref UMLS:C5680168 semapv:UnspecifiedMatching +Orphanet:68364 Hemoglobinopathy oboInOwl:hasDbXref MESH:D006453 semapv:UnspecifiedMatching +Orphanet:68364 Hemoglobinopathy oboInOwl:hasDbXref MedDRA:10060892 semapv:UnspecifiedMatching +Orphanet:68364 Hemoglobinopathy oboInOwl:hasDbXref UMLS:C0019045 semapv:UnspecifiedMatching +Orphanet:68366 Lysosomal disease oboInOwl:hasDbXref UMLS:C5681329 semapv:UnspecifiedMatching +Orphanet:68366 Lysosomal disease oboInOwl:hasDbXref icd11:5C56 semapv:UnspecifiedMatching +Orphanet:68367 Rare inborn errors of metabolism oboInOwl:hasDbXref UMLS:C5680169 semapv:UnspecifiedMatching +Orphanet:68373 Peroxisomal disease oboInOwl:hasDbXref MESH:D018901 semapv:UnspecifiedMatching +Orphanet:68373 Peroxisomal disease oboInOwl:hasDbXref UMLS:C5681330 semapv:UnspecifiedMatching +Orphanet:68373 Peroxisomal disease oboInOwl:hasDbXref icd11:5C57 semapv:UnspecifiedMatching +Orphanet:68380 Mitochondrial disease oboInOwl:hasDbXref MESH:D028361 semapv:UnspecifiedMatching +Orphanet:68380 Mitochondrial disease oboInOwl:hasDbXref UMLS:C0751651 semapv:UnspecifiedMatching +Orphanet:68381 Neuromuscular disease oboInOwl:hasDbXref MESH:D009468 semapv:UnspecifiedMatching +Orphanet:68381 Neuromuscular disease oboInOwl:hasDbXref MedDRA:10029323 semapv:UnspecifiedMatching +Orphanet:68381 Neuromuscular disease oboInOwl:hasDbXref UMLS:C0027868 semapv:UnspecifiedMatching +Orphanet:68383 Rare constitutional aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:68383 Rare constitutional aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:68383 Rare constitutional aplastic anemia oboInOwl:hasDbXref UMLS:C5681331 semapv:UnspecifiedMatching +Orphanet:68385 Neurometabolic disease oboInOwl:hasDbXref UMLS:C5681332 semapv:UnspecifiedMatching +Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MedDRA:10088318 semapv:UnspecifiedMatching +Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 semapv:UnspecifiedMatching +Orphanet:684 Paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C0221055 semapv:UnspecifiedMatching +Orphanet:68402 Rare parkinsonian disorder oboInOwl:hasDbXref UMLS:C5680173 semapv:UnspecifiedMatching +Orphanet:68411 Rare bone tumor oboInOwl:hasDbXref UMLS:C5681337 semapv:UnspecifiedMatching +Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly oboInOwl:hasDbXref UMLS:C5681339 semapv:UnspecifiedMatching +Orphanet:68416 Rare infectious disease oboInOwl:hasDbXref UMLS:C5681338 semapv:UnspecifiedMatching +Orphanet:68419 Vascular anomaly or angioma oboInOwl:hasDbXref UMLS:C5681318 semapv:UnspecifiedMatching +Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref MESH:D015419 semapv:UnspecifiedMatching +Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref MedDRA:10019903 semapv:UnspecifiedMatching +Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0037773 semapv:UnspecifiedMatching +Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref icd11:8B44.0 semapv:UnspecifiedMatching +Orphanet:69 Amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:69 Amyloidosis oboInOwl:hasDbXref MESH:D000686 semapv:UnspecifiedMatching +Orphanet:69 Amyloidosis oboInOwl:hasDbXref MedDRA:10002022 semapv:UnspecifiedMatching +Orphanet:69 Amyloidosis oboInOwl:hasDbXref UMLS:C0002726 semapv:UnspecifiedMatching +Orphanet:69 Amyloidosis oboInOwl:hasDbXref icd11:5D00 semapv:UnspecifiedMatching +Orphanet:69028 Dysostosis with brachydactyly oboInOwl:hasDbXref UMLS:C5681270 semapv:UnspecifiedMatching +Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching +Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref OMIM:615861 semapv:UnspecifiedMatching +Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome oboInOwl:hasDbXref UMLS:C0403396 semapv:UnspecifiedMatching +Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref ICD10:P96.0 semapv:UnspecifiedMatching +Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref ICD10:P96.0 semapv:UnspecifiedMatching +Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization oboInOwl:hasDbXref UMLS:C4511239 semapv:UnspecifiedMatching +Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref MedDRA:10073689 semapv:UnspecifiedMatching +Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching +Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref UMLS:C3245525 semapv:UnspecifiedMatching +Orphanet:69076 Familial renal glucosuria oboInOwl:hasDbXref icd11:5C61.5 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref MESH:D018335 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref MedDRA:10073334 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching +Orphanet:69077 Rhabdoid tumor oboInOwl:hasDbXref UMLS:C0206743 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref MedDRA:10024627 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref UMLS:C0023827 semapv:UnspecifiedMatching +Orphanet:69078 Liposarcoma oboInOwl:hasDbXref icd11:2B59.Y semapv:UnspecifiedMatching +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref MESH:C566598 semapv:UnspecifiedMatching +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref OMIM:601957 semapv:UnspecifiedMatching +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref UMLS:C1865998 semapv:UnspecifiedMatching +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref MESH:C563347 semapv:UnspecifiedMatching +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref OMIM:601345 semapv:UnspecifiedMatching +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref UMLS:C1832444 semapv:UnspecifiedMatching +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref MESH:C566592 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:602032 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614927 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614928 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614929 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref OMIM:614931 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref UMLS:C1865951 semapv:UnspecifiedMatching +Orphanet:69084 Pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69085 Limb-mammary syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69085 Limb-mammary syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69085 Limb-mammary syndrome oboInOwl:hasDbXref MESH:C535903 semapv:UnspecifiedMatching +Orphanet:69085 Limb-mammary syndrome oboInOwl:hasDbXref OMIM:603543 semapv:UnspecifiedMatching +Orphanet:69085 Limb-mammary syndrome oboInOwl:hasDbXref UMLS:C1863753 semapv:UnspecifiedMatching +Orphanet:69085 Limb-mammary syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref MESH:C538331 semapv:UnspecifiedMatching +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM:161000 semapv:UnspecifiedMatching +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS:C0343111 semapv:UnspecifiedMatching +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C4303737 semapv:UnspecifiedMatching +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref MESH:C566278 semapv:UnspecifiedMatching +Orphanet:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref OMIM:106750 semapv:UnspecifiedMatching +Orphanet:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref UMLS:C1862844 semapv:UnspecifiedMatching +Orphanet:69125 Anonychia with flexural pigmentation oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref MESH:C536253 semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref MedDRA:10072222 semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref OMIM:604416 semapv:UnspecifiedMatching +Orphanet:69126 PAPA syndrome oboInOwl:hasDbXref UMLS:C1858361 semapv:UnspecifiedMatching +Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency oboInOwl:hasDbXref ICD10:D80.2 semapv:UnspecifiedMatching +Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency oboInOwl:hasDbXref ICD10:D80.2 semapv:UnspecifiedMatching +Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching +Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref ICD10:K80.8 semapv:UnspecifiedMatching +Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref MedDRA:10068936 semapv:UnspecifiedMatching +Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref OMIM:600803 semapv:UnspecifiedMatching +Orphanet:69663 Low phospholipid-associated cholelithiasis oboInOwl:hasDbXref UMLS:C2609268 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ICD10:O26.6 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:147480 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:614972 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref UMLS:C0268318 semapv:UnspecifiedMatching +Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref MedDRA:10069461 semapv:UnspecifiedMatching +Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref OMIM:276710 semapv:UnspecifiedMatching +Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref UMLS:C0268623 semapv:UnspecifiedMatching +Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref icd11:5C50.1Y semapv:UnspecifiedMatching +Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:137940 semapv:UnspecifiedMatching +Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:607823 semapv:UnspecifiedMatching +Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref UMLS:C4317151 semapv:UnspecifiedMatching +Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:69736 Bilateral acute depigmentation of the iris oboInOwl:hasDbXref UMLS:C4304058 semapv:UnspecifiedMatching +Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching +Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref UMLS:C1832216 semapv:UnspecifiedMatching +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1832215 semapv:UnspecifiedMatching +Orphanet:69744 Circumscribed palmoplantar hypokeratosis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:69744 Circumscribed palmoplantar hypokeratosis oboInOwl:hasDbXref UMLS:C0406762 semapv:UnspecifiedMatching +Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref MedDRA:10068856 semapv:UnspecifiedMatching +Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref UMLS:C0334063 semapv:UnspecifiedMatching +Orphanet:69745 Warty dyskeratoma oboInOwl:hasDbXref icd11:2F21.Y semapv:UnspecifiedMatching +Orphanet:699 Pearson syndrome oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:699 Pearson syndrome oboInOwl:hasDbXref MedDRA:10062941 semapv:UnspecifiedMatching +Orphanet:699 Pearson syndrome oboInOwl:hasDbXref OMIM:557000 semapv:UnspecifiedMatching +Orphanet:699 Pearson syndrome oboInOwl:hasDbXref UMLS:C0342784 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref MESH:C535313 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref OMIM:220210 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref OMIM:300963 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref OMIM:619135 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref OMIM:619435 semapv:UnspecifiedMatching +Orphanet:7 3C syndrome oboInOwl:hasDbXref UMLS:C0796137 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C4024957 semapv:UnspecifiedMatching +Orphanet:70 Proximal spinal muscular atrophy oboInOwl:hasDbXref icd11:8B61.Y semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref ICD10:L63.0 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref ICD10:L63.0 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref MedDRA:10001766 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:300042 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching +Orphanet:700 Alopecia totalis oboInOwl:hasDbXref UMLS:C0263504 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref ICD10:L63.1 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref ICD10:L63.1 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref MESH:C537055 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref MedDRA:10001767 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:203655 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref UMLS:C0263505 semapv:UnspecifiedMatching +Orphanet:701 Alopecia universalis oboInOwl:hasDbXref icd11:ED70.2Y semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MedDRA:10067610 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:213900 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS:C0205711 semapv:UnspecifiedMatching +Orphanet:702 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching +Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref ICD10:L12.0 semapv:UnspecifiedMatching +Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref ICD10:L12.0 semapv:UnspecifiedMatching +Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref MESH:D010391 semapv:UnspecifiedMatching +Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref MedDRA:10006567 semapv:UnspecifiedMatching +Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref UMLS:C0030805 semapv:UnspecifiedMatching +Orphanet:703 Bullous pemphigoid oboInOwl:hasDbXref icd11:EB41.0 semapv:UnspecifiedMatching +Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref ICD10:L10.0 semapv:UnspecifiedMatching +Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref ICD10:L10.0 semapv:UnspecifiedMatching +Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref MedDRA:10052802 semapv:UnspecifiedMatching +Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref OMIM:169610 semapv:UnspecifiedMatching +Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref UMLS:C0030809 semapv:UnspecifiedMatching +Orphanet:704 Pemphigus vulgaris oboInOwl:hasDbXref icd11:EB40.0 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref MESH:C537004 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:220111 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:619065 semapv:UnspecifiedMatching +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref UMLS:C1857355 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618252 semapv:UnspecifiedMatching +Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref UMLS:C5680116 semapv:UnspecifiedMatching +Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching +Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching +Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref MedDRA:10037766 semapv:UnspecifiedMatching +Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref UMLS:C0400827 semapv:UnspecifiedMatching +Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref icd11:DB33.42 semapv:UnspecifiedMatching +Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10081000 semapv:UnspecifiedMatching +Orphanet:70476 Vernal keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0022577 semapv:UnspecifiedMatching +Orphanet:70482 Carcinoma of esophagus oboInOwl:hasDbXref MedDRA:10030155 semapv:UnspecifiedMatching +Orphanet:70482 Carcinoma of esophagus oboInOwl:hasDbXref UMLS:C0152018 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref ICD10:E07.1 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref ICD10:E07.1 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref MESH:C536648 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref MedDRA:10080398 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching +Orphanet:705 Pendred syndrome oboInOwl:hasDbXref UMLS:C0271829 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C22.1 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.8 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.9 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref ICD10:C24.9 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref MedDRA:10008593 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref OMIM:615619 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref UMLS:C0206698 semapv:UnspecifiedMatching +Orphanet:70567 Cholangiocarcinoma oboInOwl:hasDbXref icd11:2C12.10 semapv:UnspecifiedMatching +Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref MedDRA:10051358 semapv:UnspecifiedMatching +Orphanet:70568 Post-transplant lymphoproliferative disease oboInOwl:hasDbXref UMLS:C0432487 semapv:UnspecifiedMatching +Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref MedDRA:10041067 semapv:UnspecifiedMatching +Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref OMIM:182280 semapv:UnspecifiedMatching +Orphanet:70573 Small cell lung cancer oboInOwl:hasDbXref UMLS:C0149925 semapv:UnspecifiedMatching +Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:J80 semapv:UnspecifiedMatching +Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:J80 semapv:UnspecifiedMatching +Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C5680115 semapv:UnspecifiedMatching +Orphanet:70578 Adult acute respiratory distress syndrome oboInOwl:hasDbXref icd11:CB00 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:P22.0 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref ICD10:P22.0 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref MESH:D012127 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref MedDRA:10028974 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref OMIM:267450 semapv:UnspecifiedMatching +Orphanet:70587 Infant acute respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0035220 semapv:UnspecifiedMatching +Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref ICD10:P24.0 semapv:UnspecifiedMatching +Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching +Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref MedDRA:10076496 semapv:UnspecifiedMatching +Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref UMLS:C0025048 semapv:UnspecifiedMatching +Orphanet:70588 Meconium aspiration syndrome oboInOwl:hasDbXref icd11:KB26.0 semapv:UnspecifiedMatching +Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10:P27.1 semapv:UnspecifiedMatching +Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MESH:D001997 semapv:UnspecifiedMatching +Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref MedDRA:10006475 semapv:UnspecifiedMatching +Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref UMLS:C0006287 semapv:UnspecifiedMatching +Orphanet:70589 Bronchopulmonary dysplasia oboInOwl:hasDbXref icd11:KB29.0 semapv:UnspecifiedMatching +Orphanet:70590 Infantile apnea oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching +Orphanet:70590 Infantile apnea oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching +Orphanet:70590 Infantile apnea oboInOwl:hasDbXref MedDRA:10077321 semapv:UnspecifiedMatching +Orphanet:70590 Infantile apnea oboInOwl:hasDbXref UMLS:C0745261 semapv:UnspecifiedMatching +Orphanet:70590 Infantile apnea oboInOwl:hasDbXref icd11:7A4Y semapv:UnspecifiedMatching +Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref ICD10:I26.0 semapv:UnspecifiedMatching +Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref ICD10:I26.0 semapv:UnspecifiedMatching +Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref MedDRA:10068739 semapv:UnspecifiedMatching +Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref OMIM:612862 semapv:UnspecifiedMatching +Orphanet:70591 Chronic thromboembolic pulmonary hypertension oboInOwl:hasDbXref UMLS:C2363973 semapv:UnspecifiedMatching +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref MESH:C564352 semapv:UnspecifiedMatching +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref OMIM:607676 semapv:UnspecifiedMatching +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref UMLS:C1843256 semapv:UnspecifiedMatching +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching +Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency oboInOwl:hasDbXref UMLS:C0398712 semapv:UnspecifiedMatching +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref MESH:C562657 semapv:UnspecifiedMatching +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref OMIM:612716 semapv:UnspecifiedMatching +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS:C0268468 semapv:UnspecifiedMatching +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency oboInOwl:hasDbXref icd11:5C59.01 semapv:UnspecifiedMatching +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref MESH:C537583 semapv:UnspecifiedMatching +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref UMLS:C1843851 semapv:UnspecifiedMatching +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching +Orphanet:70596 Congenital Epstein-Barr virus infection oboInOwl:hasDbXref UMLS:C4274357 semapv:UnspecifiedMatching +Orphanet:706 NON RARE IN EUROPE: Patent arterial duct oboInOwl:hasDbXref ICD10:Q25.0 semapv:UnspecifiedMatching +Orphanet:706 NON RARE IN EUROPE: Patent arterial duct oboInOwl:hasDbXref MedDRA:10034130 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.0 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.0 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.1 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.1 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.2 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.3 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.7 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.8 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.9 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref ICD10:A20.9 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref MedDRA:10035148 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref UMLS:C0032064 semapv:UnspecifiedMatching +Orphanet:707 Plague oboInOwl:hasDbXref icd11:1B93 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref MESH:C537884 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref MedDRA:10059202 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching +Orphanet:708 Peters anomaly oboInOwl:hasDbXref OMIM:612968 semapv:UnspecifiedMatching +Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref MESH:C537617 semapv:UnspecifiedMatching +Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref OMIM:261540 semapv:UnspecifiedMatching +Orphanet:709 Peters plus syndrome oboInOwl:hasDbXref UMLS:C0796012 semapv:UnspecifiedMatching +Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref MESH:C535460 semapv:UnspecifiedMatching +Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref OMIM:246700 semapv:UnspecifiedMatching +Orphanet:71 Chylomicron retention disease oboInOwl:hasDbXref UMLS:C0795956 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref MESH:C538582 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref MedDRA:10082289 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref UMLS:C0220658 semapv:UnspecifiedMatching +Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref icd11:LD24.G0 semapv:UnspecifiedMatching +Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching +Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref UMLS:C2752015 semapv:UnspecifiedMatching +Orphanet:71198 Rare pulmonary hypertension oboInOwl:hasDbXref UMLS:C5681268 semapv:UnspecifiedMatching +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref UMLS:C5680791 semapv:UnspecifiedMatching +Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly oboInOwl:hasDbXref UMLS:C5680114 semapv:UnspecifiedMatching +Orphanet:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref MedDRA:10050245 semapv:UnspecifiedMatching +Orphanet:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C0242584 semapv:UnspecifiedMatching +Orphanet:71209 Rare soft tissue tumor oboInOwl:hasDbXref UMLS:C5680113 semapv:UnspecifiedMatching +Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref ICD10:G36.0 semapv:UnspecifiedMatching +Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MESH:D009471 semapv:UnspecifiedMatching +Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref MedDRA:10029322 semapv:UnspecifiedMatching +Orphanet:71211 Neuromyelitis optica spectrum disorder oboInOwl:hasDbXref UMLS:C0027873 semapv:UnspecifiedMatching +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231530 semapv:UnspecifiedMatching +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:609975 semapv:UnspecifiedMatching +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C4303473 semapv:UnspecifiedMatching +Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:71213 Retinal capillary malformation oboInOwl:hasDbXref UMLS:C5681267 semapv:UnspecifiedMatching +Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4303592 semapv:UnspecifiedMatching +Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref MESH:C565647 semapv:UnspecifiedMatching +Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching +Orphanet:71271 Split hand-split foot-deafness syndrome oboInOwl:hasDbXref UMLS:C1857344 semapv:UnspecifiedMatching +Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref MESH:C537234 semapv:UnspecifiedMatching +Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref MedDRA:10066142 semapv:UnspecifiedMatching +Orphanet:71272 Sandifer syndrome oboInOwl:hasDbXref UMLS:C0338465 semapv:UnspecifiedMatching +Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref MESH:D059228 semapv:UnspecifiedMatching +Orphanet:71273 Renal nutcracker syndrome oboInOwl:hasDbXref UMLS:C3178770 semapv:UnspecifiedMatching +Orphanet:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref ICD10:D20.1 semapv:UnspecifiedMatching +Orphanet:71274 Disseminated peritoneal leiomyomatosis oboInOwl:hasDbXref UMLS:C0267785 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref MESH:C562717 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:268150 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:617970 semapv:UnspecifiedMatching +Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref UMLS:C0272052 semapv:UnspecifiedMatching +Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching +Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref UMLS:C3698095 semapv:UnspecifiedMatching +Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref icd11:CA0B semapv:UnspecifiedMatching +Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref OMIM:606777 semapv:UnspecifiedMatching +Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref UMLS:C1847501 semapv:UnspecifiedMatching +Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref icd11:5C61.5 semapv:UnspecifiedMatching +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref OMIM:610015 semapv:UnspecifiedMatching +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency oboInOwl:hasDbXref UMLS:C5680112 semapv:UnspecifiedMatching +Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref ICD10:G61.8 semapv:UnspecifiedMatching +Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref MESH:C537980 semapv:UnspecifiedMatching +Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref MedDRA:10088816 semapv:UnspecifiedMatching +Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref UMLS:C2931684 semapv:UnspecifiedMatching +Orphanet:71279 CANOMAD syndrome oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching +Orphanet:71281 Rare central nervous system and retinal vascular disease oboInOwl:hasDbXref UMLS:C5681266 semapv:UnspecifiedMatching +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:605432 semapv:UnspecifiedMatching +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:616738 semapv:UnspecifiedMatching +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C4303670 semapv:UnspecifiedMatching +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref MESH:C563324 semapv:UnspecifiedMatching +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:601399 semapv:UnspecifiedMatching +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:616216 semapv:UnspecifiedMatching +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref UMLS:C1832388 semapv:UnspecifiedMatching +Orphanet:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS:C5568976 semapv:UnspecifiedMatching +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C5680790 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref UMLS:C4303761 semapv:UnspecifiedMatching +Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref icd11:3B63.0 semapv:UnspecifiedMatching +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref MESH:C564485 semapv:UnspecifiedMatching +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:300559 semapv:UnspecifiedMatching +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C1845151 semapv:UnspecifiedMatching +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref MESH:D059545 semapv:UnspecifiedMatching +Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref MedDRA:10065311 semapv:UnspecifiedMatching +Orphanet:71505 Cancer-associated retinopathy oboInOwl:hasDbXref UMLS:C0730307 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref MESH:C538001 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref MedDRA:10083658 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref OMIM:128235 semapv:UnspecifiedMatching +Orphanet:71517 Rapid-onset dystonia-parkinsonism oboInOwl:hasDbXref UMLS:C1868681 semapv:UnspecifiedMatching +Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref ICD10:G24.3 semapv:UnspecifiedMatching +Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref ICD10:G24.3 semapv:UnspecifiedMatching +Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref UMLS:C3494934 semapv:UnspecifiedMatching +Orphanet:71518 Benign paroxysmal torticollis of infancy oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching +Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref ICD10:F44.4 semapv:UnspecifiedMatching +Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref ICD10:F44.4 semapv:UnspecifiedMatching +Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref MedDRA:10072376 semapv:UnspecifiedMatching +Orphanet:71519 Psychogenic movement disorders oboInOwl:hasDbXref UMLS:C0752208 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref MESH:C565726 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref OMIM:601665 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref OMIM:609734 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref UMLS:C1857854 semapv:UnspecifiedMatching +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref OMIM:600955 semapv:UnspecifiedMatching +Orphanet:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref UMLS:C4302878 semapv:UnspecifiedMatching +Orphanet:71528 Obesity due to prohormone convertase I deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref OMIM:601665 semapv:UnspecifiedMatching +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref OMIM:618406 semapv:UnspecifiedMatching +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref UMLS:C4273958 semapv:UnspecifiedMatching +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref MESH:D010661 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref MedDRA:10034872 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref UMLS:C0031485 semapv:UnspecifiedMatching +Orphanet:716 Phenylketonuria oboInOwl:hasDbXref icd11:5C50.0 semapv:UnspecifiedMatching +Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref MESH:D010855 semapv:UnspecifiedMatching +Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref OMIM:261800 semapv:UnspecifiedMatching +Orphanet:718 Isolated Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C0031900 semapv:UnspecifiedMatching +Orphanet:71859 Rare genetic neurological disorder oboInOwl:hasDbXref UMLS:C5681307 semapv:UnspecifiedMatching +Orphanet:71862 Inherited retinal disorder oboInOwl:hasDbXref MESH:D058499 semapv:UnspecifiedMatching +Orphanet:71862 Inherited retinal disorder oboInOwl:hasDbXref MedDRA:10038857 semapv:UnspecifiedMatching +Orphanet:71862 Inherited retinal disorder oboInOwl:hasDbXref UMLS:C0854723 semapv:UnspecifiedMatching +Orphanet:71864 Muscular channelopathy oboInOwl:hasDbXref UMLS:C5681306 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref MESH:D017204 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref MedDRA:10049004 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref UMLS:C0162635 semapv:UnspecifiedMatching +Orphanet:72 Angelman syndrome oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching +Orphanet:720 Pili bifurcati oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:720 Pili bifurcati oboInOwl:hasDbXref UMLS:C5574653 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching +Orphanet:721 Gray platelet syndrome oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching +Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching +Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching +Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref OMIM:217090 semapv:UnspecifiedMatching +Orphanet:722 Hypoplasminogenemia oboInOwl:hasDbXref UMLS:C0398621 semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:B48.5+ semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:B48.5+ semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref ICD10:J17.2* semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref MESH:D011020 semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref MedDRA:10035662 semapv:UnspecifiedMatching +Orphanet:723 Pneumocystosis oboInOwl:hasDbXref UMLS:C1535939 semapv:UnspecifiedMatching +Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref ICD10:J82 semapv:UnspecifiedMatching +Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref UMLS:C4518469 semapv:UnspecifiedMatching +Orphanet:724 Idiopathic acute eosinophilic pneumonia oboInOwl:hasDbXref icd11:CB02.10 semapv:UnspecifiedMatching +Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref MedDRA:10078827 semapv:UnspecifiedMatching +Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching +Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref UMLS:C5552731 semapv:UnspecifiedMatching +Orphanet:725 Continuous spikes and waves during sleep oboInOwl:hasDbXref icd11:8A62.Y semapv:UnspecifiedMatching +Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MedDRA:10062943 semapv:UnspecifiedMatching +Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv:UnspecifiedMatching +Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS:C0205710 semapv:UnspecifiedMatching +Orphanet:726 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching +Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref ICD10:M31.7 semapv:UnspecifiedMatching +Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref MESH:D055953 semapv:UnspecifiedMatching +Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref MedDRA:10063344 semapv:UnspecifiedMatching +Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref UMLS:C2347126 semapv:UnspecifiedMatching +Orphanet:727 Microscopic polyangiitis oboInOwl:hasDbXref icd11:4A44.A0 semapv:UnspecifiedMatching +Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref ICD10:M94.1 semapv:UnspecifiedMatching +Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref ICD10:M94.1 semapv:UnspecifiedMatching +Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref MESH:D011081 semapv:UnspecifiedMatching +Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref MedDRA:10038304 semapv:UnspecifiedMatching +Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref UMLS:C0032453 semapv:UnspecifiedMatching +Orphanet:728 Relapsing polychondritis oboInOwl:hasDbXref icd11:FB82.3 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref ICD10:D45 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref MedDRA:10036057 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref OMIM:263300 semapv:UnspecifiedMatching +Orphanet:729 Polycythemia vera oboInOwl:hasDbXref UMLS:C0032463 semapv:UnspecifiedMatching +Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref MedDRA:10071283 semapv:UnspecifiedMatching +Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref OMIM:123880 semapv:UnspecifiedMatching +Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref UMLS:C0029438 semapv:UnspecifiedMatching +Orphanet:73 Gorham-Stout disease oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MESH:D016891 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MedDRA:10036046 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:173900 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:600666 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:613095 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:618061 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref OMIM:620056 semapv:UnspecifiedMatching +Orphanet:730 Autosomal dominant polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085413 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.1 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10:Q61.1 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MedDRA:10036047 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:617610 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 semapv:UnspecifiedMatching +Orphanet:731 Autosomal recessive polycystic kidney disease oboInOwl:hasDbXref icd11:GB8Y semapv:UnspecifiedMatching +Orphanet:732 Polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching +Orphanet:732 Polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching +Orphanet:732 Polymyositis oboInOwl:hasDbXref MESH:D017285 semapv:UnspecifiedMatching +Orphanet:732 Polymyositis oboInOwl:hasDbXref MedDRA:10036102 semapv:UnspecifiedMatching +Orphanet:732 Polymyositis oboInOwl:hasDbXref UMLS:C0085655 semapv:UnspecifiedMatching +Orphanet:732 Polymyositis oboInOwl:hasDbXref icd11:4A41.1 semapv:UnspecifiedMatching +Orphanet:73217 Müllerian aplasia oboInOwl:hasDbXref MESH:C537371 semapv:UnspecifiedMatching +Orphanet:73217 Müllerian aplasia oboInOwl:hasDbXref UMLS:C0431637 semapv:UnspecifiedMatching +Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching +Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref UMLS:C4303570 semapv:UnspecifiedMatching +Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C4304399 semapv:UnspecifiedMatching +Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref ICD10:I99 semapv:UnspecifiedMatching +Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref MESH:C567088 semapv:UnspecifiedMatching +Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref OMIM:611773 semapv:UnspecifiedMatching +Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref UMLS:C2673195 semapv:UnspecifiedMatching +Orphanet:73229 HANAC syndrome oboInOwl:hasDbXref icd11:GB4Y semapv:UnspecifiedMatching +Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome oboInOwl:hasDbXref UMLS:C4302826 semapv:UnspecifiedMatching +Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome oboInOwl:hasDbXref icd11:FB83.0Y semapv:UnspecifiedMatching +Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome oboInOwl:hasDbXref UMLS:C4509964 semapv:UnspecifiedMatching +Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4304402 semapv:UnspecifiedMatching +Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching +Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching +Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref UMLS:C0206719 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.0 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.0 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.7 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.8 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.9 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref ICD10:B41.9 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref MedDRA:10061906 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref UMLS:C0030409 semapv:UnspecifiedMatching +Orphanet:73260 Paracoccidioidomycosis oboInOwl:hasDbXref icd11:1F2E.1 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.0 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.1 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.2 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.3 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.4 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.4 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.5 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.5 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.8 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.8 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.9 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref ICD10:B46.9 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MESH:D020096 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref MedDRA:10061418 semapv:UnspecifiedMatching +Orphanet:73263 Zygomycosis oboInOwl:hasDbXref UMLS:C0043541 semapv:UnspecifiedMatching +Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching +Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref ICD10:G47.2 semapv:UnspecifiedMatching +Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref UMLS:C5545668 semapv:UnspecifiedMatching +Orphanet:73267 Non-24-hour sleep-wake syndrome oboInOwl:hasDbXref icd11:7A6Z semapv:UnspecifiedMatching +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect oboInOwl:hasDbXref UMLS:C5190736 semapv:UnspecifiedMatching +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref MESH:C563867 semapv:UnspecifiedMatching +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref OMIM:608747 semapv:UnspecifiedMatching +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency oboInOwl:hasDbXref UMLS:C1837475 semapv:UnspecifiedMatching +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref ICD10:E34.3 semapv:UnspecifiedMatching +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref MESH:C564816 semapv:UnspecifiedMatching +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref OMIM:270450 semapv:UnspecifiedMatching +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance oboInOwl:hasDbXref UMLS:C1849157 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref MESH:D011125 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref MedDRA:10056981 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching +Orphanet:733 Familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C0032580 semapv:UnspecifiedMatching +Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref OMIM:185050 semapv:UnspecifiedMatching +Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref UMLS:C5680090 semapv:UnspecifiedMatching +Orphanet:734 Alpha delta granule deficiency oboInOwl:hasDbXref icd11:3B62.4 semapv:UnspecifiedMatching +Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref ICD10:T62.2 semapv:UnspecifiedMatching +Orphanet:73423 Acute ackee fruit intoxication oboInOwl:hasDbXref UMLS:C0274888 semapv:UnspecifiedMatching +Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175800 semapv:UnspecifiedMatching +Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching +Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref UMLS:C0949506 semapv:UnspecifiedMatching +Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref icd11:ED52 semapv:UnspecifiedMatching +Orphanet:736 Palmoplantar porokeratosis of Mantoux oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref OMIM:175850 semapv:UnspecifiedMatching +Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref UMLS:C0162838 semapv:UnspecifiedMatching +Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref icd11:EC20.32 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref ICD10:E80.1 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref MESH:D011164 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref MedDRA:10036181 semapv:UnspecifiedMatching +Orphanet:738 Porphyria oboInOwl:hasDbXref UMLS:C0032708 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref MedDRA:10036476 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching +Orphanet:739 Prader-Willi syndrome oboInOwl:hasDbXref UMLS:C0032897 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B81.3 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B81.3 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B83.2 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref ICD10:B83.2 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref MESH:C536369 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref MedDRA:10069517 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref UMLS:C0392662 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref icd11:1F60 semapv:UnspecifiedMatching +Orphanet:74 Angiostrongyliasis oboInOwl:hasDbXref icd11:1F60.0 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MESH:D011371 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref MedDRA:10036794 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref OMIM:176670 semapv:UnspecifiedMatching +Orphanet:740 Hutchinson-Gilford progeria syndrome oboInOwl:hasDbXref UMLS:C0033300 semapv:UnspecifiedMatching +Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref ICD10:I34.1 semapv:UnspecifiedMatching +Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref ICD10:I34.1 semapv:UnspecifiedMatching +Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:157700 semapv:UnspecifiedMatching +Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:607829 semapv:UnspecifiedMatching +Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref OMIM:610840 semapv:UnspecifiedMatching +Orphanet:741 Familial mitral valve prolapse oboInOwl:hasDbXref UMLS:C0340364 semapv:UnspecifiedMatching +Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref MESH:D056732 semapv:UnspecifiedMatching +Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref OMIM:170100 semapv:UnspecifiedMatching +Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref UMLS:C0268532 semapv:UnspecifiedMatching +Orphanet:742 Prolidase deficiency oboInOwl:hasDbXref icd11:5C50.F0 semapv:UnspecifiedMatching +Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:612336 semapv:UnspecifiedMatching +Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref OMIM:614514 semapv:UnspecifiedMatching +Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref MESH:D016715 semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref MedDRA:10074067 semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref OMIM:176920 semapv:UnspecifiedMatching +Orphanet:744 Proteus syndrome oboInOwl:hasDbXref UMLS:C0085261 semapv:UnspecifiedMatching +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:176860 semapv:UnspecifiedMatching +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref OMIM:612304 semapv:UnspecifiedMatching +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref UMLS:C5679824 semapv:UnspecifiedMatching +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching +Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:C566945 semapv:UnspecifiedMatching +Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching +Orphanet:746 Mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 semapv:UnspecifiedMatching +Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610910 semapv:UnspecifiedMatching +Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C1970472 semapv:UnspecifiedMatching +Orphanet:747 Autoimmune pulmonary alveolar proteinosis oboInOwl:hasDbXref icd11:CB04.31 semapv:UnspecifiedMatching +Orphanet:748 Mendelian susceptibility to mycobacterial diseases oboInOwl:hasDbXref UMLS:C3266863 semapv:UnspecifiedMatching +Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref MESH:C562725 semapv:UnspecifiedMatching +Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref OMIM:612423 semapv:UnspecifiedMatching +Orphanet:749 Congenital prekallikrein deficiency oboInOwl:hasDbXref UMLS:C0272339 semapv:UnspecifiedMatching +Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 semapv:UnspecifiedMatching +Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 semapv:UnspecifiedMatching +Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref UMLS:C0410538 semapv:UnspecifiedMatching +Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref icd11:LD24.60 semapv:UnspecifiedMatching +Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref MedDRA:10028586 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref UMLS:C0027030 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.2 semapv:UnspecifiedMatching +Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref MESH:C537805 semapv:UnspecifiedMatching +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref OMIM:264300 semapv:UnspecifiedMatching +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref UMLS:C0268296 semapv:UnspecifiedMatching +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref MedDRA:10053687 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching +Orphanet:75233 Wolman disease oboInOwl:hasDbXref UMLS:C0043208 semapv:UnspecifiedMatching +Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref MESH:D015217 semapv:UnspecifiedMatching +Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching +Orphanet:75234 Cholesteryl ester storage disease oboInOwl:hasDbXref UMLS:C0008384 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref ICD10:I42.5 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref ICD10:I42.5 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:609578 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:612422 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:615248 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:617047 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:619433 semapv:UnspecifiedMatching +Orphanet:75249 Familial isolated restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C5680139 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref MESH:C535830 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref MedDRA:10000029 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref OMIM:264600 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref UMLS:C0268297 semapv:UnspecifiedMatching +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref MESH:C536064 semapv:UnspecifiedMatching +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref OMIM:609993 semapv:UnspecifiedMatching +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref UMLS:C4302815 semapv:UnspecifiedMatching +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:75326 Retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching +Orphanet:75326 Retinal arterial tortuosity oboInOwl:hasDbXref UMLS:C0423401 semapv:UnspecifiedMatching +Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 semapv:UnspecifiedMatching +Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref OMIM:136550 semapv:UnspecifiedMatching +Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS:C0730294 semapv:UnspecifiedMatching +Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref MESH:C535356 semapv:UnspecifiedMatching +Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref OMIM:600790 semapv:UnspecifiedMatching +Orphanet:75373 Progressive bifocal chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1833321 semapv:UnspecifiedMatching +Orphanet:75374 Bradyopsia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:75374 Bradyopsia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:75374 Bradyopsia oboInOwl:hasDbXref MESH:C564243 semapv:UnspecifiedMatching +Orphanet:75374 Bradyopsia oboInOwl:hasDbXref OMIM:608415 semapv:UnspecifiedMatching +Orphanet:75374 Bradyopsia oboInOwl:hasDbXref UMLS:C1842073 semapv:UnspecifiedMatching +Orphanet:75374 Bradyopsia oboInOwl:hasDbXref icd11:9D7Y semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref MESH:C535602 semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref OMIM:126600 semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref OMIM:126700 semapv:UnspecifiedMatching +Orphanet:75376 Familial drusen oboInOwl:hasDbXref UMLS:C1832174 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref MESH:C535358 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:215500 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613105 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref OMIM:613144 semapv:UnspecifiedMatching +Orphanet:75377 Central areolar choroidal dystrophy oboInOwl:hasDbXref UMLS:C1536451 semapv:UnspecifiedMatching +Orphanet:75378 Oligocone trichromacy oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:75378 Oligocone trichromacy oboInOwl:hasDbXref UMLS:C4302876 semapv:UnspecifiedMatching +Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref OMIM:153880 semapv:UnspecifiedMatching +Orphanet:75381 Cystoid macular dystrophy oboInOwl:hasDbXref UMLS:C0024440 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref ICD10:H53.6 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref MESH:C537743 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref OMIM:258100 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref OMIM:613411 semapv:UnspecifiedMatching +Orphanet:75382 Oguchi disease oboInOwl:hasDbXref UMLS:C1306122 semapv:UnspecifiedMatching +Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome oboInOwl:hasDbXref UMLS:C4303545 semapv:UnspecifiedMatching +Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref OMIM:609981 semapv:UnspecifiedMatching +Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency oboInOwl:hasDbXref UMLS:C4518328 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C562626 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130080 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:617174 semapv:UnspecifiedMatching +Orphanet:75392 Periodontal Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268347 semapv:UnspecifiedMatching +Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching +Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching +Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv:UnspecifiedMatching +Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref MedDRA:10056292 semapv:UnspecifiedMatching +Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0039585 semapv:UnspecifiedMatching +Orphanet:754 Androgen insensitivity syndrome oboInOwl:hasDbXref icd11:LD2A.4 semapv:UnspecifiedMatching +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536201 semapv:UnspecifiedMatching +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130070 semapv:UnspecifiedMatching +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C5680137 semapv:UnspecifiedMatching +Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:C536197 semapv:UnspecifiedMatching +Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching +Orphanet:75497 X-linked Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268341 semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref MESH:C562567 semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref MedDRA:10024406 semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref UMLS:C0860158 semapv:UnspecifiedMatching +Orphanet:755 Leydig cell hypoplasia oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:75508 Angioosteohypotrophic syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:75508 Angioosteohypotrophic syndrome oboInOwl:hasDbXref UMLS:C4707561 semapv:UnspecifiedMatching +Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref MESH:C536761 semapv:UnspecifiedMatching +Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref OMIM:300751 semapv:UnspecifiedMatching +Orphanet:75563 X-linked sideroblastic anemia oboInOwl:hasDbXref UMLS:C4551511 semapv:UnspecifiedMatching +Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.3 semapv:UnspecifiedMatching +Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref UMLS:C4016601 semapv:UnspecifiedMatching +Orphanet:75564 Acquired idiopathic sideroblastic anemia oboInOwl:hasDbXref icd11:2A33 semapv:UnspecifiedMatching +Orphanet:75565 Tropical endomyocardial fibrosis oboInOwl:hasDbXref ICD10:I42.3 semapv:UnspecifiedMatching +Orphanet:75565 Tropical endomyocardial fibrosis oboInOwl:hasDbXref ICD10:I42.3 semapv:UnspecifiedMatching +Orphanet:75565 Tropical endomyocardial fibrosis oboInOwl:hasDbXref UMLS:C2882252 semapv:UnspecifiedMatching +Orphanet:75565 Tropical endomyocardial fibrosis oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching +Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref ICD10:I42.3 semapv:UnspecifiedMatching +Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref ICD10:I42.3 semapv:UnspecifiedMatching +Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref MedDRA:10052841 semapv:UnspecifiedMatching +Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref UMLS:C0206143 semapv:UnspecifiedMatching +Orphanet:75566 Loeffler endocarditis oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching +Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:75567 Primary progressive freezing gait oboInOwl:hasDbXref UMLS:C4275078 semapv:UnspecifiedMatching +Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching +Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 semapv:UnspecifiedMatching +Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C0268436 semapv:UnspecifiedMatching +Orphanet:756 Pseudohypoaldosteronism type 1 oboInOwl:hasDbXref icd11:GB90.41 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:145260 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614491 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614492 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614495 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614496 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref UMLS:C1449844 semapv:UnspecifiedMatching +Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:75789 SIBIDS syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MedDRA:10037150 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:177850 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 semapv:UnspecifiedMatching +Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C0033847 semapv:UnspecifiedMatching +Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching +Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref OMIM:616470 semapv:UnspecifiedMatching +Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C4551860 semapv:UnspecifiedMatching +Orphanet:75840 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:75857 6q terminal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:75857 6q terminal deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:75857 6q terminal deletion syndrome oboInOwl:hasDbXref UMLS:C4304514 semapv:UnspecifiedMatching +Orphanet:75857 6q terminal deletion syndrome oboInOwl:hasDbXref icd11:LD44.60 semapv:UnspecifiedMatching +Orphanet:75858 MORM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:75858 MORM syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:75858 MORM syndrome oboInOwl:hasDbXref MESH:C536984 semapv:UnspecifiedMatching +Orphanet:75858 MORM syndrome oboInOwl:hasDbXref OMIM:610156 semapv:UnspecifiedMatching +Orphanet:75858 MORM syndrome oboInOwl:hasDbXref UMLS:C1857802 semapv:UnspecifiedMatching +Orphanet:759 NON RARE IN EUROPE: Central precocious puberty oboInOwl:hasDbXref icd11:5A60.3 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.0 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.1 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.7 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.7 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.9 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref ICD10:B78.9 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref MESH:D013322 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref MedDRA:10042254 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref UMLS:C0038463 semapv:UnspecifiedMatching +Orphanet:76 Strongyloidiasis oboInOwl:hasDbXref icd11:1F6B semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10:D81.5 semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref MESH:C562587 semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref MedDRA:10086665 semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref OMIM:613179 semapv:UnspecifiedMatching +Orphanet:760 Purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0268125 semapv:UnspecifiedMatching +Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref ICD10:D69.0 semapv:UnspecifiedMatching +Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref MESH:D011695 semapv:UnspecifiedMatching +Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref MedDRA:10082960 semapv:UnspecifiedMatching +Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref UMLS:C0034152 semapv:UnspecifiedMatching +Orphanet:761 Immunoglobulin A vasculitis oboInOwl:hasDbXref icd11:4A44.92 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref MESH:D058631 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref MedDRA:10082973 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref OMIM:265800 semapv:UnspecifiedMatching +Orphanet:763 Pycnodysostosis oboInOwl:hasDbXref UMLS:C0238402 semapv:UnspecifiedMatching +Orphanet:764 Pyomyositis oboInOwl:hasDbXref ICD10:M60.0 semapv:UnspecifiedMatching +Orphanet:764 Pyomyositis oboInOwl:hasDbXref MESH:D052880 semapv:UnspecifiedMatching +Orphanet:764 Pyomyositis oboInOwl:hasDbXref MedDRA:10037652 semapv:UnspecifiedMatching +Orphanet:764 Pyomyositis oboInOwl:hasDbXref UMLS:C0041188 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MESH:D015325 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref MedDRA:10084109 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching +Orphanet:765 Pyruvate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0034345 semapv:UnspecifiedMatching +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref MESH:C564858 semapv:UnspecifiedMatching +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref OMIM:266200 semapv:UnspecifiedMatching +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency oboInOwl:hasDbXref UMLS:C0340968 semapv:UnspecifiedMatching +Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref ICD10:M30.0 semapv:UnspecifiedMatching +Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref MESH:D010488 semapv:UnspecifiedMatching +Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref MedDRA:10036024 semapv:UnspecifiedMatching +Orphanet:767 Polyarteritis nodosa oboInOwl:hasDbXref UMLS:C0031036 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref MedDRA:10057926 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:601005 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:603830 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:611818 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:611820 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:612955 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613693 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:613695 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching +Orphanet:768 Familial long QT syndrome oboInOwl:hasDbXref UMLS:C1141890 semapv:UnspecifiedMatching +Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref OMIM:262190 semapv:UnspecifiedMatching +Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref UMLS:C0271695 semapv:UnspecifiedMatching +Orphanet:769 Rabson-Mendenhall syndrome oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.0 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.0 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.1 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.1 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref ICD10:A82.9 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref MESH:D011818 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref MedDRA:10037742 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref UMLS:C0034494 semapv:UnspecifiedMatching +Orphanet:770 Rabies oboInOwl:hasDbXref icd11:1C82 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.0 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.3 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.3 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.4 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.4 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.5 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.5 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching +Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching +Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 semapv:UnspecifiedMatching +Orphanet:77240 Primary lymphedema oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching +Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref OMIM:614103 semapv:UnspecifiedMatching +Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref OMIM:190350 semapv:UnspecifiedMatching +Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref OMIM:190351 semapv:UnspecifiedMatching +Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref MedDRA:10075697 semapv:UnspecifiedMatching +Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching +Orphanet:77259 Gaucher disease type 1 oboInOwl:hasDbXref UMLS:C1961835 semapv:UnspecifiedMatching +Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref MedDRA:10075698 semapv:UnspecifiedMatching +Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching +Orphanet:77260 Gaucher disease type 2 oboInOwl:hasDbXref UMLS:C0268250 semapv:UnspecifiedMatching +Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref MedDRA:10075699 semapv:UnspecifiedMatching +Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching +Orphanet:77261 Gaucher disease type 3 oboInOwl:hasDbXref UMLS:C0268251 semapv:UnspecifiedMatching +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MESH:D052536 semapv:UnspecifiedMatching +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref OMIM:257200 semapv:UnspecifiedMatching +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C0268242 semapv:UnspecifiedMatching +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref MESH:D052537 semapv:UnspecifiedMatching +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref OMIM:607616 semapv:UnspecifiedMatching +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency oboInOwl:hasDbXref UMLS:C0268243 semapv:UnspecifiedMatching +Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref MESH:C564344 semapv:UnspecifiedMatching +Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching +Orphanet:77295 Odontoleukodystrophy oboInOwl:hasDbXref UMLS:C3502054 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref MESH:D006957 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref MedDRA:10081545 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref OMIM:144800 semapv:UnspecifiedMatching +Orphanet:77296 Morgagni-Stewart-Morel syndrome oboInOwl:hasDbXref UMLS:C0020494 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref MESH:C537839 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref MedDRA:10072223 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref OMIM:609628 semapv:UnspecifiedMatching +Orphanet:77297 Majeed syndrome oboInOwl:hasDbXref UMLS:C1864997 semapv:UnspecifiedMatching +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref MESH:C565948 semapv:UnspecifiedMatching +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref OMIM:206900 semapv:UnspecifiedMatching +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome oboInOwl:hasDbXref UMLS:C1859773 semapv:UnspecifiedMatching +Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref MESH:C566985 semapv:UnspecifiedMatching +Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref OMIM:611222 semapv:UnspecifiedMatching +Orphanet:77299 Microphthalmia-brain atrophy syndrome oboInOwl:hasDbXref UMLS:C1970013 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref MedDRA:10038275 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref OMIM:614879 semapv:UnspecifiedMatching +Orphanet:773 Refsum disease oboInOwl:hasDbXref UMLS:C0034960 semapv:UnspecifiedMatching +Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome oboInOwl:hasDbXref UMLS:C4518478 semapv:UnspecifiedMatching +Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref MESH:C579873 semapv:UnspecifiedMatching +Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref UMLS:C3711390 semapv:UnspecifiedMatching +Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref icd11:LD44.90 semapv:UnspecifiedMatching +Orphanet:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10:I78.0 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10:I78.0 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref MESH:D013683 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref MedDRA:10019883 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:187300 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:600376 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:601101 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:610655 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:615506 semapv:UnspecifiedMatching +Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS:C0039445 semapv:UnspecifiedMatching +Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref MESH:C537724 semapv:UnspecifiedMatching +Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching +Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref OMIM:309520 semapv:UnspecifiedMatching +Orphanet:776 Lujan-Fryns syndrome oboInOwl:hasDbXref UMLS:C0796022 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300046 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300047 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300062 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300115 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300143 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300210 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300271 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300324 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300355 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300372 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300387 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300419 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300428 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300433 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300436 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300454 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300498 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300505 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300518 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300558 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300705 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300716 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300802 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300803 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300844 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300848 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300849 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300850 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300851 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300852 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300919 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300928 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300978 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300983 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:300984 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:301013 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:309530 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:309549 semapv:UnspecifiedMatching +Orphanet:777 X-linked non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C2931498 semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref ICD10:F84.2 semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref MedDRA:10039000 semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching +Orphanet:778 Rett syndrome oboInOwl:hasDbXref UMLS:C0035372 semapv:UnspecifiedMatching +Orphanet:77828 Genetic obesity oboInOwl:hasDbXref UMLS:C5681294 semapv:UnspecifiedMatching +Orphanet:77830 Rare genetic odontologic disease oboInOwl:hasDbXref UMLS:C5681298 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:K74.3 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref MedDRA:10070953 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref OMIM:613471 semapv:UnspecifiedMatching +Orphanet:779 Reynolds syndrome oboInOwl:hasDbXref UMLS:C0748397 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.0 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.1 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.8 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.8 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D000724 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10002255 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref UMLS:C0002831 semapv:UnspecifiedMatching +Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.2 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10039022 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0035412 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55 semapv:UnspecifiedMatching +Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref icd11:2B55.Y semapv:UnspecifiedMatching +Orphanet:781 Q fever oboInOwl:hasDbXref ICD10:A78 semapv:UnspecifiedMatching +Orphanet:781 Q fever oboInOwl:hasDbXref ICD10:A78 semapv:UnspecifiedMatching +Orphanet:781 Q fever oboInOwl:hasDbXref MESH:D011778 semapv:UnspecifiedMatching +Orphanet:781 Q fever oboInOwl:hasDbXref MedDRA:10037688 semapv:UnspecifiedMatching +Orphanet:781 Q fever oboInOwl:hasDbXref UMLS:C0034362 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MedDRA:10059255 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:180500 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:601499 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS:C3495488 semapv:UnspecifiedMatching +Orphanet:782 Axenfeld-Rieger syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MESH:D012415 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MedDRA:10039281 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS:C0035934 semapv:UnspecifiedMatching +Orphanet:783 Rubinstein-Taybi syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref ICD10:E30.8 semapv:UnspecifiedMatching +Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref ICD10:E30.8 semapv:UnspecifiedMatching +Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref OMIM:615363 semapv:UnspecifiedMatching +Orphanet:785 Estrogen resistance syndrome oboInOwl:hasDbXref UMLS:C4510972 semapv:UnspecifiedMatching +Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching +Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching +Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref OMIM:615962 semapv:UnspecifiedMatching +Orphanet:786 Generalized glucocorticoid resistance syndrome oboInOwl:hasDbXref UMLS:C5231034 semapv:UnspecifiedMatching +Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching +Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref OMIM:262850 semapv:UnspecifiedMatching +Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref UMLS:C4274304 semapv:UnspecifiedMatching +Orphanet:79 Congenital alpha2-antiplasmin deficiency oboInOwl:hasDbXref icd11:3B50.0 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref ICD10:C69.2 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MedDRA:10038916 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching +Orphanet:790 Retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 semapv:UnspecifiedMatching +Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref OMIM:300209 semapv:UnspecifiedMatching +Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref UMLS:C1846175 semapv:UnspecifiedMatching +Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching +Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching +Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref UMLS:C5445164 semapv:UnspecifiedMatching +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref ICD10:K11.8 semapv:UnspecifiedMatching +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MESH:D008882 semapv:UnspecifiedMatching +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref MedDRA:10051457 semapv:UnspecifiedMatching +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref UMLS:C0026103 semapv:UnspecifiedMatching +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching +Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching +Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching +Orphanet:79083 PPARG-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref OMIM:608600 semapv:UnspecifiedMatching +Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching +Orphanet:79084 Familial partial lipodystrophy, Köbberling type oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C5680134 semapv:UnspecifiedMatching +Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0271693 semapv:UnspecifiedMatching +Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching +Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref MESH:C562448 semapv:UnspecifiedMatching +Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref OMIM:608709 semapv:UnspecifiedMatching +Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref UMLS:C0220989 semapv:UnspecifiedMatching +Orphanet:79088 Localized lipodystrophy oboInOwl:hasDbXref UMLS:C4329999 semapv:UnspecifiedMatching +Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching +Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome oboInOwl:hasDbXref UMLS:C4510610 semapv:UnspecifiedMatching +Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref ICD10:G37.4 semapv:UnspecifiedMatching +Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref ICD10:G37.4 semapv:UnspecifiedMatching +Orphanet:79093 Foix-Alajouanine syndrome oboInOwl:hasDbXref UMLS:C2062694 semapv:UnspecifiedMatching +Orphanet:79094 Grange syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79094 Grange syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79094 Grange syndrome oboInOwl:hasDbXref MESH:C566529 semapv:UnspecifiedMatching +Orphanet:79094 Grange syndrome oboInOwl:hasDbXref OMIM:602531 semapv:UnspecifiedMatching +Orphanet:79094 Grange syndrome oboInOwl:hasDbXref UMLS:C1865267 semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref OMIM:614307 semapv:UnspecifiedMatching +Orphanet:79095 Congenital bile acid synthesis defect type 4 oboInOwl:hasDbXref UMLS:C3280428 semapv:UnspecifiedMatching +Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref ICD10:G40.8 semapv:UnspecifiedMatching +Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref MESH:C566449 semapv:UnspecifiedMatching +Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching +Orphanet:79096 Pyridoxal phosphate-responsive seizures oboInOwl:hasDbXref UMLS:C1864723 semapv:UnspecifiedMatching +Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref UMLS:C4273952 semapv:UnspecifiedMatching +Orphanet:79097 Folinic acid-responsive seizures oboInOwl:hasDbXref icd11:5C59.Y semapv:UnspecifiedMatching +Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref ICD10:H44.1 semapv:UnspecifiedMatching +Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 semapv:UnspecifiedMatching +Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref MedDRA:10042742 semapv:UnspecifiedMatching +Orphanet:79098 Sympathetic ophthalmia oboInOwl:hasDbXref UMLS:C0029077 semapv:UnspecifiedMatching +Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref ICD10:L30.8 semapv:UnspecifiedMatching +Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref UMLS:C4751206 semapv:UnspecifiedMatching +Orphanet:79099 Interstitial granulomatous dermatitis with arthritis oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref MESH:D012174 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref MedDRA:10038914 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180100 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180104 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180105 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:180210 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268000 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268025 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:268060 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300029 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300155 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300424 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:300605 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:312600 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:312612 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:400004 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600059 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600105 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600132 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600138 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:600852 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:601414 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:601718 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:602594 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:602772 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:606068 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:607921 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:608133 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:608380 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:609913 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:609923 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610282 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610359 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:610599 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:611131 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612095 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612165 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612572 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612712 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:612943 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613194 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613428 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613464 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613575 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613581 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613582 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613617 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613660 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613731 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613750 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613756 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613758 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613767 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613769 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613794 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613801 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613809 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613810 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613827 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613861 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613862 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:613983 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614180 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614181 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614494 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:614500 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615233 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615434 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615565 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615725 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615780 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:615922 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616188 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616394 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616469 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616544 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:616562 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617023 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617123 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617304 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617433 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617460 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:617781 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618173 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618195 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618220 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618345 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618613 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618697 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618826 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:618955 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:619007 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:619845 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:620102 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref OMIM:620228 semapv:UnspecifiedMatching +Orphanet:791 Retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0035334 semapv:UnspecifiedMatching +Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref ICD10:L66.4 semapv:UnspecifiedMatching +Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref ICD10:L66.4 semapv:UnspecifiedMatching +Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 semapv:UnspecifiedMatching +Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching +Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref UMLS:C0263429 semapv:UnspecifiedMatching +Orphanet:79100 Atrophoderma vermiculata oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref ICD10:E72.5 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref MedDRA:10058514 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 semapv:UnspecifiedMatching +Orphanet:79101 Hyperprolinemia type 2 oboInOwl:hasDbXref UMLS:C2931835 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref MedDRA:10043788 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:188580 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:613239 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref OMIM:614834 semapv:UnspecifiedMatching +Orphanet:79102 Thyrotoxic periodic paralysis oboInOwl:hasDbXref UMLS:C0268446 semapv:UnspecifiedMatching +Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref MedDRA:10066948 semapv:UnspecifiedMatching +Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref UMLS:C3714524 semapv:UnspecifiedMatching +Orphanet:79105 Myxofibrosarcoma oboInOwl:hasDbXref icd11:2B53.0 semapv:UnspecifiedMatching +Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref MESH:C564010 semapv:UnspecifiedMatching +Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching +Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref UMLS:C1838779 semapv:UnspecifiedMatching +Orphanet:79106 Eiken syndrome oboInOwl:hasDbXref icd11:FB83.0Y semapv:UnspecifiedMatching +Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref OMIM:607371 semapv:UnspecifiedMatching +Orphanet:79107 Developmental malformations-deafness-dystonia syndrome oboInOwl:hasDbXref UMLS:C4303590 semapv:UnspecifiedMatching +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref MESH:C537405 semapv:UnspecifiedMatching +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref OMIM:610536 semapv:UnspecifiedMatching +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1864652 semapv:UnspecifiedMatching +Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref OMIM:610199 semapv:UnspecifiedMatching +Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref UMLS:C4510367 semapv:UnspecifiedMatching +Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome oboInOwl:hasDbXref icd11:GB8Y semapv:UnspecifiedMatching +Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching +Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching +Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:235550 semapv:UnspecifiedMatching +Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4510630 semapv:UnspecifiedMatching +Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome oboInOwl:hasDbXref icd11:4A01.33 semapv:UnspecifiedMatching +Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref MedDRA:10066728 semapv:UnspecifiedMatching +Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching +Orphanet:79126 Acute interstitial pneumonia oboInOwl:hasDbXref UMLS:C1279945 semapv:UnspecifiedMatching +Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref ICD10:J68.4 semapv:UnspecifiedMatching +Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref ICD10:J68.4 semapv:UnspecifiedMatching +Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref MedDRA:10066393 semapv:UnspecifiedMatching +Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome oboInOwl:hasDbXref UMLS:C1735355 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref MESH:C562489 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref MedDRA:10062997 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref OMIM:247610 semapv:UnspecifiedMatching +Orphanet:79128 Lymphoid interstitial pneumonia oboInOwl:hasDbXref UMLS:C0264511 semapv:UnspecifiedMatching +Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref UMLS:C4304344 semapv:UnspecifiedMatching +Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref OMIM:136500 semapv:UnspecifiedMatching +Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref UMLS:C5235196 semapv:UnspecifiedMatching +Orphanet:79133 Focal facial dermal dysplasia type I oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:79134 DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:79134 DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:79134 DEND syndrome oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching +Orphanet:79134 DEND syndrome oboInOwl:hasDbXref UMLS:C4303593 semapv:UnspecifiedMatching +Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref MESH:C564697 semapv:UnspecifiedMatching +Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref OMIM:606554 semapv:UnspecifiedMatching +Orphanet:79135 Episodic ataxia type 3 oboInOwl:hasDbXref UMLS:C1847839 semapv:UnspecifiedMatching +Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref MESH:C564698 semapv:UnspecifiedMatching +Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref OMIM:606552 semapv:UnspecifiedMatching +Orphanet:79136 Episodic ataxia type 4 oboInOwl:hasDbXref UMLS:C1847843 semapv:UnspecifiedMatching +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref MESH:C563719 semapv:UnspecifiedMatching +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref OMIM:609446 semapv:UnspecifiedMatching +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref UMLS:C1836173 semapv:UnspecifiedMatching +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref MedDRA:10076985 semapv:UnspecifiedMatching +Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref UMLS:C1960543 semapv:UnspecifiedMatching +Orphanet:79138 Bickerstaff brainstem encephalitis oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref ICD10:A83.0 semapv:UnspecifiedMatching +Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref ICD10:A83.0 semapv:UnspecifiedMatching +Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref MESH:D004672 semapv:UnspecifiedMatching +Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref MedDRA:10014596 semapv:UnspecifiedMatching +Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref UMLS:C0014057 semapv:UnspecifiedMatching +Orphanet:79139 Japanese encephalitis oboInOwl:hasDbXref icd11:1C85 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.3 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.6 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.6 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.7 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C44.7 semapv:UnspecifiedMatching +Orphanet:79140 Cutaneous neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C0007129 semapv:UnspecifiedMatching +Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref MESH:C566180 semapv:UnspecifiedMatching +Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref OMIM:114140 semapv:UnspecifiedMatching +Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref UMLS:C1861964 semapv:UnspecifiedMatching +Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching +Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture oboInOwl:hasDbXref ICD10:M72.0 semapv:UnspecifiedMatching +Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture oboInOwl:hasDbXref ICD10:M72.0 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref MESH:C536377 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:107000 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref OMIM:614149 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref UMLS:C0265998 semapv:UnspecifiedMatching +Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching +Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref ICD10:Q84.6 semapv:UnspecifiedMatching +Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref OMIM:605779 semapv:UnspecifiedMatching +Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref UMLS:C1274658 semapv:UnspecifiedMatching +Orphanet:79144 Isolated congenital onychodysplasia oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref MESH:C562924 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref MedDRA:10068651 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:179850 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615327 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615674 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615696 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C3714534 semapv:UnspecifiedMatching +Orphanet:79145 Dowling-Degos disease oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref MESH:C564163 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref OMIM:614233 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref UMLS:C1840392 semapv:UnspecifiedMatching +Orphanet:79146 Familial progressive hyperpigmentation oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching +Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref ICD10:L87.1 semapv:UnspecifiedMatching +Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref ICD10:L87.1 semapv:UnspecifiedMatching +Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref MESH:C565687 semapv:UnspecifiedMatching +Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref OMIM:216700 semapv:UnspecifiedMatching +Orphanet:79147 Familial reactive perforating collagenosis oboInOwl:hasDbXref UMLS:C1857624 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref ICD10:L87.2 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref ICD10:L87.2 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MESH:C536202 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref MedDRA:10014338 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref OMIM:130100 semapv:UnspecifiedMatching +Orphanet:79148 Elastosis perforans serpiginosa oboInOwl:hasDbXref UMLS:C0221271 semapv:UnspecifiedMatching +Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref MESH:C535375 semapv:UnspecifiedMatching +Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref OMIM:221800 semapv:UnspecifiedMatching +Orphanet:79149 Dermochondrocorneal dystrophy oboInOwl:hasDbXref UMLS:C0432288 semapv:UnspecifiedMatching +Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref ICD10:L81.4 semapv:UnspecifiedMatching +Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref OMIM:614323 semapv:UnspecifiedMatching +Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref UMLS:C1304501 semapv:UnspecifiedMatching +Orphanet:79150 Linear and whorled nevoid hypermelanosis oboInOwl:hasDbXref icd11:EC23.0 semapv:UnspecifiedMatching +Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref MedDRA:10069445 semapv:UnspecifiedMatching +Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref OMIM:101900 semapv:UnspecifiedMatching +Orphanet:79151 Acrokeratosis verruciformis of Hopf oboInOwl:hasDbXref UMLS:C0265971 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref MedDRA:10085766 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:607728 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:612293 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:612353 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:614714 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:616063 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref OMIM:616631 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref UMLS:C0265970 semapv:UnspecifiedMatching +Orphanet:79152 Disseminated superficial actinic porokeratosis oboInOwl:hasDbXref icd11:ED52 semapv:UnspecifiedMatching +Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref ICD10:L60.3 semapv:UnspecifiedMatching +Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref ICD10:L60.3 semapv:UnspecifiedMatching +Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching +Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref UMLS:C5681288 semapv:UnspecifiedMatching +Orphanet:79153 Idiopathic trachyonychia oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching +Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref OMIM:204750 semapv:UnspecifiedMatching +Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref UMLS:C1859817 semapv:UnspecifiedMatching +Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref MESH:C536081 semapv:UnspecifiedMatching +Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref OMIM:236800 semapv:UnspecifiedMatching +Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref UMLS:C0268474 semapv:UnspecifiedMatching +Orphanet:79155 Hydroxykynureninuria oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching +Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref OMIM:236900 semapv:UnspecifiedMatching +Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref UMLS:C4510221 semapv:UnspecifiedMatching +Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C566487 semapv:UnspecifiedMatching +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:610006 semapv:UnspecifiedMatching +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1864912 semapv:UnspecifiedMatching +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79158 Cerebral organic aciduria oboInOwl:hasDbXref UMLS:C5681292 semapv:UnspecifiedMatching +Orphanet:79158 Cerebral organic aciduria oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535541 semapv:UnspecifiedMatching +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:611283 semapv:UnspecifiedMatching +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1969809 semapv:UnspecifiedMatching +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79161 Disorder of carbohydrate metabolism oboInOwl:hasDbXref MedDRA:10061023 semapv:UnspecifiedMatching +Orphanet:79161 Disorder of carbohydrate metabolism oboInOwl:hasDbXref UMLS:C0149670 semapv:UnspecifiedMatching +Orphanet:79163 Classic organic aciduria oboInOwl:hasDbXref UMLS:C5681291 semapv:UnspecifiedMatching +Orphanet:79163 Classic organic aciduria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:79166 Disorder of amino acid absorption and transport oboInOwl:hasDbXref UMLS:C0268641 semapv:UnspecifiedMatching +Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification oboInOwl:hasDbXref UMLS:C5681290 semapv:UnspecifiedMatching +Orphanet:79169 Disorder of neurotransmitter metabolism and transport oboInOwl:hasDbXref UMLS:C5681289 semapv:UnspecifiedMatching +Orphanet:79171 Disorder of cobalamin metabolism and transport oboInOwl:hasDbXref UMLS:C5681844 semapv:UnspecifiedMatching +Orphanet:79171 Disorder of cobalamin metabolism and transport oboInOwl:hasDbXref icd11:5C63.0 semapv:UnspecifiedMatching +Orphanet:79172 Creatine deficiency syndrome oboInOwl:hasDbXref MedDRA:10084104 semapv:UnspecifiedMatching +Orphanet:79172 Creatine deficiency syndrome oboInOwl:hasDbXref UMLS:C5244016 semapv:UnspecifiedMatching +Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref UMLS:C5680126 semapv:UnspecifiedMatching +Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref UMLS:C5681281 semapv:UnspecifiedMatching +Orphanet:79178 Glucose transport disorder oboInOwl:hasDbXref UMLS:C5389835 semapv:UnspecifiedMatching +Orphanet:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref UMLS:C0342762 semapv:UnspecifiedMatching +Orphanet:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching +Orphanet:79181 Disorder of histidine metabolism oboInOwl:hasDbXref UMLS:C0268512 semapv:UnspecifiedMatching +Orphanet:79181 Disorder of histidine metabolism oboInOwl:hasDbXref icd11:5C50.2 semapv:UnspecifiedMatching +Orphanet:79183 Disorder of ketolysis oboInOwl:hasDbXref UMLS:C5681845 semapv:UnspecifiedMatching +Orphanet:79185 Disorder of ornithine or proline metabolism oboInOwl:hasDbXref UMLS:C5681278 semapv:UnspecifiedMatching +Orphanet:79186 Disorder of pentose phosphate metabolism oboInOwl:hasDbXref UMLS:C5681279 semapv:UnspecifiedMatching +Orphanet:79186 Disorder of pentose phosphate metabolism oboInOwl:hasDbXref icd11:5C51.0 semapv:UnspecifiedMatching +Orphanet:79187 Disorder of peptide metabolism oboInOwl:hasDbXref icd11:5C50.F semapv:UnspecifiedMatching +Orphanet:79188 Peroxisomal beta-oxidation disorder oboInOwl:hasDbXref UMLS:C5681280 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref MESH:C536664 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:214100 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:214110 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614859 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614862 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614866 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614870 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614872 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614876 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614879 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614882 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614883 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614886 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching +Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref UMLS:C1832200 semapv:UnspecifiedMatching +Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism oboInOwl:hasDbXref UMLS:C5681284 semapv:UnspecifiedMatching +Orphanet:79191 Disorder of purine metabolism oboInOwl:hasDbXref MedDRA:10061476 semapv:UnspecifiedMatching +Orphanet:79191 Disorder of purine metabolism oboInOwl:hasDbXref UMLS:C0268104 semapv:UnspecifiedMatching +Orphanet:79191 Disorder of purine metabolism oboInOwl:hasDbXref icd11:5C55.0 semapv:UnspecifiedMatching +Orphanet:79192 Disorder of pyridoxine metabolism oboInOwl:hasDbXref UMLS:C5681285 semapv:UnspecifiedMatching +Orphanet:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref MedDRA:10070969 semapv:UnspecifiedMatching +Orphanet:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref UMLS:C0268127 semapv:UnspecifiedMatching +Orphanet:79193 Disorder of pyrimidine metabolism oboInOwl:hasDbXref icd11:5C55.1 semapv:UnspecifiedMatching +Orphanet:79194 Disorder of serine or glycine metabolism oboInOwl:hasDbXref UMLS:C5681286 semapv:UnspecifiedMatching +Orphanet:79195 Sterol biosynthesis disorder oboInOwl:hasDbXref UMLS:C5681287 semapv:UnspecifiedMatching +Orphanet:79196 Disorder of the gamma-glutamyl cycle oboInOwl:hasDbXref UMLS:C0268517 semapv:UnspecifiedMatching +Orphanet:79196 Disorder of the gamma-glutamyl cycle oboInOwl:hasDbXref icd11:5C50.5 semapv:UnspecifiedMatching +Orphanet:79197 Disorder of branched-chain amino acid metabolism oboInOwl:hasDbXref UMLS:C0342712 semapv:UnspecifiedMatching +Orphanet:79197 Disorder of branched-chain amino acid metabolism oboInOwl:hasDbXref icd11:5C50.D semapv:UnspecifiedMatching +Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref ICD10:Q14.1 semapv:UnspecifiedMatching +Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref OMIM:312700 semapv:UnspecifiedMatching +Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref UMLS:C0271091 semapv:UnspecifiedMatching +Orphanet:792 X-linked retinoschisis oboInOwl:hasDbXref icd11:9B73.11 semapv:UnspecifiedMatching +Orphanet:79200 Disorder of energy metabolism oboInOwl:hasDbXref UMLS:C5681282 semapv:UnspecifiedMatching +Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref MESH:D006008 semapv:UnspecifiedMatching +Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref MedDRA:10061990 semapv:UnspecifiedMatching +Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref UMLS:C0017919 semapv:UnspecifiedMatching +Orphanet:79201 Glycogen storage disease oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:79207 Disorder of lysosomal amino acid transport oboInOwl:hasDbXref UMLS:C5681276 semapv:UnspecifiedMatching +Orphanet:79212 Mucolipidosis oboInOwl:hasDbXref MESH:D009081 semapv:UnspecifiedMatching +Orphanet:79212 Mucolipidosis oboInOwl:hasDbXref MedDRA:10072939 semapv:UnspecifiedMatching +Orphanet:79212 Mucolipidosis oboInOwl:hasDbXref UMLS:C0026697 semapv:UnspecifiedMatching +Orphanet:79212 Mucolipidosis oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching +Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:UnspecifiedMatching +Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref MedDRA:10028093 semapv:UnspecifiedMatching +Orphanet:79213 Mucopolysaccharidosis oboInOwl:hasDbXref UMLS:C0026703 semapv:UnspecifiedMatching +Orphanet:79214 Disorder of biogenic amine metabolism and transport oboInOwl:hasDbXref UMLS:C5681274 semapv:UnspecifiedMatching +Orphanet:79215 Oligosaccharidosis oboInOwl:hasDbXref UMLS:C5547641 semapv:UnspecifiedMatching +Orphanet:79215 Oligosaccharidosis oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:79217 Other metabolic disease with skin involvement oboInOwl:hasDbXref UMLS:C5681273 semapv:UnspecifiedMatching +Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency oboInOwl:hasDbXref UMLS:C5681275 semapv:UnspecifiedMatching +Orphanet:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref MESH:D011686 semapv:UnspecifiedMatching +Orphanet:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref MedDRA:10037546 semapv:UnspecifiedMatching +Orphanet:79224 Disorder of purine or pyrimidine metabolism oboInOwl:hasDbXref UMLS:C0034139 semapv:UnspecifiedMatching +Orphanet:79225 Sphingolipidosis oboInOwl:hasDbXref MESH:D013106 semapv:UnspecifiedMatching +Orphanet:79225 Sphingolipidosis oboInOwl:hasDbXref UMLS:C0037899 semapv:UnspecifiedMatching +Orphanet:79225 Sphingolipidosis oboInOwl:hasDbXref icd11:5C56.0 semapv:UnspecifiedMatching +Orphanet:79226 Sterol metabolism disorder oboInOwl:hasDbXref UMLS:C5681277 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref MESH:C537247 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref OMIM:602390 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref OMIM:613313 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref UMLS:C0268060 semapv:UnspecifiedMatching +Orphanet:79230 HJV or HAMP-related hemochromatosis oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref MESH:C562583 semapv:UnspecifiedMatching +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref OMIM:300323 semapv:UnspecifiedMatching +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref UMLS:C0268117 semapv:UnspecifiedMatching +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching +Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref MedDRA:10057034 semapv:UnspecifiedMatching +Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching +Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref UMLS:C0010324 semapv:UnspecifiedMatching +Orphanet:79234 Crigler-Najjar syndrome type 1 oboInOwl:hasDbXref icd11:5C58.00 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref ICD10:E80.5 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MESH:C536213 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref MedDRA:10011387 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref OMIM:606785 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref UMLS:C2931132 semapv:UnspecifiedMatching +Orphanet:79235 Crigler-Najjar syndrome type 2 oboInOwl:hasDbXref icd11:5C58.00 semapv:UnspecifiedMatching +Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching +Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref UMLS:C0268155 semapv:UnspecifiedMatching +Orphanet:79237 Galactokinase deficiency oboInOwl:hasDbXref icd11:5C51.41 semapv:UnspecifiedMatching +Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching +Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref UMLS:C0751161 semapv:UnspecifiedMatching +Orphanet:79238 Galactose epimerase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching +Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref ICD10:E74.2 semapv:UnspecifiedMatching +Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching +Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref UMLS:C0268151 semapv:UnspecifiedMatching +Orphanet:79239 Classic galactosemia oboInOwl:hasDbXref icd11:5C51.40 semapv:UnspecifiedMatching +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref MESH:C563008 semapv:UnspecifiedMatching +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:261750 semapv:UnspecifiedMatching +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C0543514 semapv:UnspecifiedMatching +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref MESH:D028921 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref MedDRA:10071434 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref OMIM:253260 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref UMLS:C0220754 semapv:UnspecifiedMatching +Orphanet:79241 Biotinidase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching +Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10:E53.8 semapv:UnspecifiedMatching +Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref MESH:D028922 semapv:UnspecifiedMatching +Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 semapv:UnspecifiedMatching +Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS:C0268581 semapv:UnspecifiedMatching +Orphanet:79242 Holocarboxylase synthetase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref MESH:C564071 semapv:UnspecifiedMatching +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency oboInOwl:hasDbXref UMLS:C1839413 semapv:UnspecifiedMatching +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref MESH:C565448 semapv:UnspecifiedMatching +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency oboInOwl:hasDbXref UMLS:C1855565 semapv:UnspecifiedMatching +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref ICD10:E74.4 semapv:UnspecifiedMatching +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref MESH:C536258 semapv:UnspecifiedMatching +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency oboInOwl:hasDbXref UMLS:C1837429 semapv:UnspecifiedMatching +Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching +Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref UMLS:C5680203 semapv:UnspecifiedMatching +Orphanet:79253 Mild phenylketonuria oboInOwl:hasDbXref icd11:5C50.0Y semapv:UnspecifiedMatching +Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:UnspecifiedMatching +Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref ICD10:E70.0 semapv:UnspecifiedMatching +Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref MedDRA:10034875 semapv:UnspecifiedMatching +Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching +Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref UMLS:C0751434 semapv:UnspecifiedMatching +Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching +Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching +Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref UMLS:C0268272 semapv:UnspecifiedMatching +Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching +Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching +Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref UMLS:C0268273 semapv:UnspecifiedMatching +Orphanet:79257 GM1 gangliosidosis type 3 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref UMLS:C5680202 semapv:UnspecifiedMatching +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref MESH:C562594 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref UMLS:C0268146 semapv:UnspecifiedMatching +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref UMLS:C0342749 semapv:UnspecifiedMatching +Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref UMLS:C0342750 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:162350 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204300 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching +Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022797 semapv:UnspecifiedMatching +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0268281 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10052073 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:609055 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0751383 semapv:UnspecifiedMatching +Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching +Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref UMLS:C0086647 semapv:UnspecifiedMatching +Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching +Orphanet:79270 Sanfilippo syndrome type B oboInOwl:hasDbXref UMLS:C0086648 semapv:UnspecifiedMatching +Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching +Orphanet:79271 Sanfilippo syndrome type C oboInOwl:hasDbXref UMLS:C0086649 semapv:UnspecifiedMatching +Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching +Orphanet:79272 Sanfilippo syndrome type D oboInOwl:hasDbXref UMLS:C0086650 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref MedDRA:10019866 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching +Orphanet:79273 Hereditary coproporphyria oboInOwl:hasDbXref UMLS:C0162531 semapv:UnspecifiedMatching +Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching +Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching +Orphanet:79276 Acute intermittent porphyria oboInOwl:hasDbXref UMLS:C0162565 semapv:UnspecifiedMatching +Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching +Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching +Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching +Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref OMIM:263700 semapv:UnspecifiedMatching +Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162530 semapv:UnspecifiedMatching +Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref icd11:5C58.12 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MESH:D046351 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref MedDRA:10015289 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C0162568 semapv:UnspecifiedMatching +Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref icd11:5C58.12 semapv:UnspecifiedMatching +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref MESH:C536631 semapv:UnspecifiedMatching +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref UMLS:C1836544 semapv:UnspecifiedMatching +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref UMLS:C1836522 semapv:UnspecifiedMatching +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref UMLS:C5437471 semapv:UnspecifiedMatching +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching +Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref MESH:C564743 semapv:UnspecifiedMatching +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref UMLS:C1848552 semapv:UnspecifiedMatching +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref MESH:C564747 semapv:UnspecifiedMatching +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref UMLS:C1848578 semapv:UnspecifiedMatching +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref UMLS:C0268247 semapv:UnspecifiedMatching +Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref OMIM:136120 semapv:UnspecifiedMatching +Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref UMLS:C0342895 semapv:UnspecifiedMatching +Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching +Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching +Orphanet:79293 Familial LCAT deficiency oboInOwl:hasDbXref UMLS:C4087498 semapv:UnspecifiedMatching +Orphanet:79298 Diazoxide-resistant focal hyperinsulinism oboInOwl:hasDbXref UMLS:C5680204 semapv:UnspecifiedMatching +Orphanet:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref OMIM:602485 semapv:UnspecifiedMatching +Orphanet:79299 Congenital glucokinase-related hyperinsulinism oboInOwl:hasDbXref UMLS:C4274019 semapv:UnspecifiedMatching +Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMatching +Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref ICD10:M86.3 semapv:UnspecifiedMatching +Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref MESH:D020083 semapv:UnspecifiedMatching +Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref MedDRA:10051316 semapv:UnspecifiedMatching +Orphanet:793 SAPHO syndrome oboInOwl:hasDbXref UMLS:C0263859 semapv:UnspecifiedMatching +Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching +Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref OMIM:607765 semapv:UnspecifiedMatching +Orphanet:79301 Congenital bile acid synthesis defect type 1 oboInOwl:hasDbXref UMLS:C1843116 semapv:UnspecifiedMatching +Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching +Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref OMIM:613812 semapv:UnspecifiedMatching +Orphanet:79302 Congenital bile acid synthesis defect type 3 oboInOwl:hasDbXref UMLS:C4304715 semapv:UnspecifiedMatching +Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref MESH:C535443 semapv:UnspecifiedMatching +Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref OMIM:235555 semapv:UnspecifiedMatching +Orphanet:79303 Congenital bile acid synthesis defect type 2 oboInOwl:hasDbXref UMLS:C1856127 semapv:UnspecifiedMatching +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref UMLS:C3489789 semapv:UnspecifiedMatching +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref UMLS:C1865643 semapv:UnspecifiedMatching +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref MESH:C535933 semapv:UnspecifiedMatching +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref MESH:C537360 semapv:UnspecifiedMatching +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref MESH:C537361 semapv:UnspecifiedMatching +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:236792 semapv:UnspecifiedMatching +Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C1855995 semapv:UnspecifiedMatching +Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:600721 semapv:UnspecifiedMatching +Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:613657 semapv:UnspecifiedMatching +Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C1833429 semapv:UnspecifiedMatching +Orphanet:79315 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref MESH:C535739 semapv:UnspecifiedMatching +Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref OMIM:212065 semapv:UnspecifiedMatching +Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref UMLS:C0349653 semapv:UnspecifiedMatching +Orphanet:79318 PMM2-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79319 MPI-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79319 MPI-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79319 MPI-CDG oboInOwl:hasDbXref MESH:C535740 semapv:UnspecifiedMatching +Orphanet:79319 MPI-CDG oboInOwl:hasDbXref OMIM:602579 semapv:UnspecifiedMatching +Orphanet:79319 MPI-CDG oboInOwl:hasDbXref UMLS:C1865145 semapv:UnspecifiedMatching +Orphanet:79319 MPI-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref MESH:C535741 semapv:UnspecifiedMatching +Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref OMIM:603147 semapv:UnspecifiedMatching +Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref UMLS:C2930997 semapv:UnspecifiedMatching +Orphanet:79320 ALG6-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref MESH:C535742 semapv:UnspecifiedMatching +Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref OMIM:601110 semapv:UnspecifiedMatching +Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref UMLS:C1832736 semapv:UnspecifiedMatching +Orphanet:79321 ALG3-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref MESH:C535743 semapv:UnspecifiedMatching +Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref OMIM:608799 semapv:UnspecifiedMatching +Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref UMLS:C1837396 semapv:UnspecifiedMatching +Orphanet:79322 DPM1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref MESH:C535744 semapv:UnspecifiedMatching +Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref OMIM:609180 semapv:UnspecifiedMatching +Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref UMLS:C1836669 semapv:UnspecifiedMatching +Orphanet:79323 MPDU1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref MESH:C535745 semapv:UnspecifiedMatching +Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref OMIM:607143 semapv:UnspecifiedMatching +Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref UMLS:C2931001 semapv:UnspecifiedMatching +Orphanet:79324 ALG12-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref MESH:C535746 semapv:UnspecifiedMatching +Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref OMIM:608104 semapv:UnspecifiedMatching +Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref UMLS:C2931002 semapv:UnspecifiedMatching +Orphanet:79325 ALG8-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref MESH:C000623088 semapv:UnspecifiedMatching +Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref OMIM:607906 semapv:UnspecifiedMatching +Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref UMLS:C1842836 semapv:UnspecifiedMatching +Orphanet:79326 ALG2-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref MESH:C535749 semapv:UnspecifiedMatching +Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref OMIM:608540 semapv:UnspecifiedMatching +Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref UMLS:C2931005 semapv:UnspecifiedMatching +Orphanet:79327 ALG1-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref MESH:C535750 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref OMIM:263210 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref OMIM:608776 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref UMLS:C2931006 semapv:UnspecifiedMatching +Orphanet:79328 ALG9-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref MESH:C535752 semapv:UnspecifiedMatching +Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref OMIM:212066 semapv:UnspecifiedMatching +Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref UMLS:C2931008 semapv:UnspecifiedMatching +Orphanet:79329 MGAT2-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref MESH:C565264 semapv:UnspecifiedMatching +Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref OMIM:606056 semapv:UnspecifiedMatching +Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref UMLS:C1853736 semapv:UnspecifiedMatching +Orphanet:79330 MOGS-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref MESH:C535753 semapv:UnspecifiedMatching +Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref OMIM:607091 semapv:UnspecifiedMatching +Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref UMLS:C2931009 semapv:UnspecifiedMatching +Orphanet:79332 B4GALT1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:79333 COG7-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79333 COG7-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:79333 COG7-CDG oboInOwl:hasDbXref MESH:C535754 semapv:UnspecifiedMatching +Orphanet:79333 COG7-CDG oboInOwl:hasDbXref OMIM:608779 semapv:UnspecifiedMatching +Orphanet:79333 COG7-CDG oboInOwl:hasDbXref UMLS:C2931010 semapv:UnspecifiedMatching +Orphanet:79333 COG7-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref MESH:C000705207 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:302950 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref OMIM:602497 semapv:UnspecifiedMatching +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C1844853 semapv:UnspecifiedMatching +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref MESH:C562961 semapv:UnspecifiedMatching +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref OMIM:118651 semapv:UnspecifiedMatching +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type oboInOwl:hasDbXref UMLS:C0432224 semapv:UnspecifiedMatching +Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching +Orphanet:79347 Chondrodysplasia punctata, Toriello type oboInOwl:hasDbXref UMLS:C4275076 semapv:UnspecifiedMatching +Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:614023 semapv:UnspecifiedMatching +Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form oboInOwl:hasDbXref icd11:5C50.6 semapv:UnspecifiedMatching +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref OMIM:601815 semapv:UnspecifiedMatching +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref UMLS:C5680205 semapv:UnspecifiedMatching +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form oboInOwl:hasDbXref icd11:5C50.6 semapv:UnspecifiedMatching +Orphanet:79353 Epidermal disease oboInOwl:hasDbXref UMLS:C5681492 semapv:UnspecifiedMatching +Orphanet:79354 Ichthyosis oboInOwl:hasDbXref MESH:D007057 semapv:UnspecifiedMatching +Orphanet:79354 Ichthyosis oboInOwl:hasDbXref MedDRA:10021198 semapv:UnspecifiedMatching +Orphanet:79354 Ichthyosis oboInOwl:hasDbXref UMLS:C0020757 semapv:UnspecifiedMatching +Orphanet:79355 Erythrokeratoderma oboInOwl:hasDbXref MedDRA:10015280 semapv:UnspecifiedMatching +Orphanet:79355 Erythrokeratoderma oboInOwl:hasDbXref UMLS:C0432330 semapv:UnspecifiedMatching +Orphanet:79356 Acrokeratoderma oboInOwl:hasDbXref UMLS:C5681491 semapv:UnspecifiedMatching +Orphanet:79357 Hereditary palmoplantar keratoderma oboInOwl:hasDbXref MedDRA:10072537 semapv:UnspecifiedMatching +Orphanet:79357 Hereditary palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0406757 semapv:UnspecifiedMatching +Orphanet:79357 Hereditary palmoplantar keratoderma oboInOwl:hasDbXref icd11:EC20.3 semapv:UnspecifiedMatching +Orphanet:79358 Porokeratosis oboInOwl:hasDbXref MESH:D017499 semapv:UnspecifiedMatching +Orphanet:79358 Porokeratosis oboInOwl:hasDbXref MedDRA:10036175 semapv:UnspecifiedMatching +Orphanet:79358 Porokeratosis oboInOwl:hasDbXref UMLS:C0162839 semapv:UnspecifiedMatching +Orphanet:79358 Porokeratosis oboInOwl:hasDbXref icd11:ED52 semapv:UnspecifiedMatching +Orphanet:79359 Other epidermal disorder oboInOwl:hasDbXref UMLS:C5681489 semapv:UnspecifiedMatching +Orphanet:79360 Other genetic epidermal disease oboInOwl:hasDbXref UMLS:C5681490 semapv:UnspecifiedMatching +Orphanet:79361 Inherited epidermolysis bullosa oboInOwl:hasDbXref UMLS:C1274224 semapv:UnspecifiedMatching +Orphanet:79362 Epidermal appendage anomaly oboInOwl:hasDbXref UMLS:C5681487 semapv:UnspecifiedMatching +Orphanet:79363 Hair anomaly oboInOwl:hasDbXref UMLS:C0265991 semapv:UnspecifiedMatching +Orphanet:79364 Alopecia oboInOwl:hasDbXref MESH:D000505 semapv:UnspecifiedMatching +Orphanet:79364 Alopecia oboInOwl:hasDbXref UMLS:C0002170 semapv:UnspecifiedMatching +Orphanet:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MESH:D006983 semapv:UnspecifiedMatching +Orphanet:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref MedDRA:10020864 semapv:UnspecifiedMatching +Orphanet:79365 Rare disorder with hypertrichosis oboInOwl:hasDbXref UMLS:C5681488 semapv:UnspecifiedMatching +Orphanet:79366 Isolated hair shaft abnormality oboInOwl:hasDbXref UMLS:C5681479 semapv:UnspecifiedMatching +Orphanet:79367 Syndromic hair shaft abnormality oboInOwl:hasDbXref UMLS:C5681478 semapv:UnspecifiedMatching +Orphanet:79368 Nail anomaly oboInOwl:hasDbXref MedDRA:10028684 semapv:UnspecifiedMatching +Orphanet:79369 Isolated nail anomaly oboInOwl:hasDbXref UMLS:C5681477 semapv:UnspecifiedMatching +Orphanet:79370 Syndromic nail anomaly oboInOwl:hasDbXref UMLS:C5681480 semapv:UnspecifiedMatching +Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching +Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MedDRA:10010452 semapv:UnspecifiedMatching +Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C0013575 semapv:UnspecifiedMatching +Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref icd11:LD27.0 semapv:UnspecifiedMatching +Orphanet:79374 Pigmentation anomaly of the skin oboInOwl:hasDbXref UMLS:C5681482 semapv:UnspecifiedMatching +Orphanet:79375 Hyperpigmentation of the skin oboInOwl:hasDbXref MESH:D017495 semapv:UnspecifiedMatching +Orphanet:79375 Hyperpigmentation of the skin oboInOwl:hasDbXref UMLS:C0162834 semapv:UnspecifiedMatching +Orphanet:79376 Hypopigmentation of the skin oboInOwl:hasDbXref MESH:D017496 semapv:UnspecifiedMatching +Orphanet:79376 Hypopigmentation of the skin oboInOwl:hasDbXref MedDRA:10040868 semapv:UnspecifiedMatching +Orphanet:79376 Hypopigmentation of the skin oboInOwl:hasDbXref UMLS:C0162835 semapv:UnspecifiedMatching +Orphanet:79377 Dermis disorder oboInOwl:hasDbXref UMLS:C5681481 semapv:UnspecifiedMatching +Orphanet:79378 Dermis elastic tissue disorder oboInOwl:hasDbXref UMLS:C5681485 semapv:UnspecifiedMatching +Orphanet:79379 Skin vascular disease oboInOwl:hasDbXref MESH:D017445 semapv:UnspecifiedMatching +Orphanet:79379 Skin vascular disease oboInOwl:hasDbXref MedDRA:10062171 semapv:UnspecifiedMatching +Orphanet:79379 Skin vascular disease oboInOwl:hasDbXref UMLS:C0162819 semapv:UnspecifiedMatching +Orphanet:79380 Mixed dermis disorder oboInOwl:hasDbXref UMLS:C5681484 semapv:UnspecifiedMatching +Orphanet:79381 Other dermis disorder oboInOwl:hasDbXref UMLS:C5681483 semapv:UnspecifiedMatching +Orphanet:79382 Subcutaneous tissue disease oboInOwl:hasDbXref UMLS:C1290008 semapv:UnspecifiedMatching +Orphanet:79384 Rare urticaria oboInOwl:hasDbXref UMLS:C5681472 semapv:UnspecifiedMatching +Orphanet:79385 Unclassified genetic skin disorder oboInOwl:hasDbXref UMLS:C5681473 semapv:UnspecifiedMatching +Orphanet:79386 Rare skin tumor or hamartoma oboInOwl:hasDbXref UMLS:C5681474 semapv:UnspecifiedMatching +Orphanet:79387 Metabolic disease with skin involvement oboInOwl:hasDbXref UMLS:C5681475 semapv:UnspecifiedMatching +Orphanet:79388 Mucopolysaccharidosis with skin involvement oboInOwl:hasDbXref UMLS:C5680198 semapv:UnspecifiedMatching +Orphanet:79389 Premature aging oboInOwl:hasDbXref MESH:D019588 semapv:UnspecifiedMatching +Orphanet:79389 Premature aging oboInOwl:hasDbXref MedDRA:10063493 semapv:UnspecifiedMatching +Orphanet:79389 Premature aging oboInOwl:hasDbXref UMLS:C0231341 semapv:UnspecifiedMatching +Orphanet:79390 Rare photodermatosis oboInOwl:hasDbXref UMLS:C5680199 semapv:UnspecifiedMatching +Orphanet:79391 Immune deficiency with skin involvement oboInOwl:hasDbXref UMLS:C5681476 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615022 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615023 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:615024 semapv:UnspecifiedMatching +Orphanet:79394 Congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C0079154 semapv:UnspecifiedMatching +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref OMIM:604117 semapv:UnspecifiedMatching +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref UMLS:C1858805 semapv:UnspecifiedMatching +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref OMIM:131760 semapv:UnspecifiedMatching +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref OMIM:619555 semapv:UnspecifiedMatching +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref UMLS:C0079295 semapv:UnspecifiedMatching +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MESH:C535959 semapv:UnspecifiedMatching +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref OMIM:131960 semapv:UnspecifiedMatching +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS:C0432316 semapv:UnspecifiedMatching +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref OMIM:131900 semapv:UnspecifiedMatching +Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref UMLS:C0079299 semapv:UnspecifiedMatching +Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:101400 semapv:UnspecifiedMatching +Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching +Orphanet:794 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS:C0175699 semapv:UnspecifiedMatching +Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:131800 semapv:UnspecifiedMatching +Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:619594 semapv:UnspecifiedMatching +Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0080333 semapv:UnspecifiedMatching +Orphanet:79400 Localized epidermolysis bullosa simplex oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref MESH:C535962 semapv:UnspecifiedMatching +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref OMIM:131950 semapv:UnspecifiedMatching +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref UMLS:C0432317 semapv:UnspecifiedMatching +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619783 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619785 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619787 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619816 semapv:UnspecifiedMatching +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C5680200 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref MESH:C535377 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:226730 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:619817 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref UMLS:C1856934 semapv:UnspecifiedMatching +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching +Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.1 semapv:UnspecifiedMatching +Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.1 semapv:UnspecifiedMatching +Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226700 semapv:UnspecifiedMatching +Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619786 semapv:UnspecifiedMatching +Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079683 semapv:UnspecifiedMatching +Orphanet:79404 Severe generalized junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching +Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching +Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref UMLS:C2673609 semapv:UnspecifiedMatching +Orphanet:79405 Junctional epidermolysis bullosa inversa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching +Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching +Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619787 semapv:UnspecifiedMatching +Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C4304724 semapv:UnspecifiedMatching +Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching +Orphanet:79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref OMIM:226600 semapv:UnspecifiedMatching +Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref UMLS:C4510043 semapv:UnspecifiedMatching +Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref OMIM:226600 semapv:UnspecifiedMatching +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref UMLS:C5680201 semapv:UnspecifiedMatching +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref OMIM:131850 semapv:UnspecifiedMatching +Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref UMLS:C0432321 semapv:UnspecifiedMatching +Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref MESH:C536979 semapv:UnspecifiedMatching +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131705 semapv:UnspecifiedMatching +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref UMLS:C1851573 semapv:UnspecifiedMatching +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref OMIM:162900 semapv:UnspecifiedMatching +Orphanet:79414 Woolly hair nevus oboInOwl:hasDbXref UMLS:C0343114 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MESH:D022861 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MedDRA:10071775 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:608233 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614072 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614073 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614074 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614075 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614076 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:617050 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIM:619172 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS:C0079504 semapv:UnspecifiedMatching +Orphanet:79430 Hermansky-Pudlak syndrome oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching +Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref UMLS:C4551504 semapv:UnspecifiedMatching +Orphanet:79431 Oculocutaneous albinism type 1A oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref MESH:C537730 semapv:UnspecifiedMatching +Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref OMIM:203200 semapv:UnspecifiedMatching +Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref UMLS:C0268495 semapv:UnspecifiedMatching +Orphanet:79432 Oculocutaneous albinism type 2 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref MESH:C537189 semapv:UnspecifiedMatching +Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref OMIM:203290 semapv:UnspecifiedMatching +Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref UMLS:C0342683 semapv:UnspecifiedMatching +Orphanet:79433 Oculocutaneous albinism type 3 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref MESH:C537729 semapv:UnspecifiedMatching +Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching +Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref UMLS:C1847024 semapv:UnspecifiedMatching +Orphanet:79434 Oculocutaneous albinism type 1B oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref MESH:C564696 semapv:UnspecifiedMatching +Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref OMIM:606574 semapv:UnspecifiedMatching +Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref UMLS:C1847836 semapv:UnspecifiedMatching +Orphanet:79435 Oculocutaneous albinism type 4 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching +Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref OMIM:103580 semapv:UnspecifiedMatching +Orphanet:79443 Pseudohypoparathyroidism type 1A oboInOwl:hasDbXref UMLS:C3494506 semapv:UnspecifiedMatching +Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref MESH:C548076 semapv:UnspecifiedMatching +Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching +Orphanet:79444 Pseudohypoparathyroidism type 1C oboInOwl:hasDbXref UMLS:C2932716 semapv:UnspecifiedMatching +Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching +Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching +Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 semapv:UnspecifiedMatching +Orphanet:79446 Multiple pterygium syndrome, Aslan type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref OMIM:312150 semapv:UnspecifiedMatching +Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C4706472 semapv:UnspecifiedMatching +Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref icd11:LD26.40 semapv:UnspecifiedMatching +Orphanet:79450 Non-hereditary congenital primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:79450 Non-hereditary congenital primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:153100 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:247440 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:611944 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:613480 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:615907 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref UMLS:C1704423 semapv:UnspecifiedMatching +Orphanet:79452 Milroy disease oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref MESH:D054705 semapv:UnspecifiedMatching +Orphanet:79455 Cutaneous mastocytoma oboInOwl:hasDbXref UMLS:C0343115 semapv:UnspecifiedMatching +Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10012812 semapv:UnspecifiedMatching +Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0024901 semapv:UnspecifiedMatching +Orphanet:79456 Diffuse cutaneous mastocytosis oboInOwl:hasDbXref icd11:XH2RG8 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MESH:D014582 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10046752 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0042111 semapv:UnspecifiedMatching +Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching +Orphanet:79458 Oley syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref UMLS:C0473574 semapv:UnspecifiedMatching +Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref UMLS:C0362030 semapv:UnspecifiedMatching +Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching +Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref UMLS:C5681486 semapv:UnspecifiedMatching +Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref MESH:D046350 semapv:UnspecifiedMatching +Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching +Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref UMLS:C0162532 semapv:UnspecifiedMatching +Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref icd11:5C58.13 semapv:UnspecifiedMatching +Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref UMLS:C4275075 semapv:UnspecifiedMatching +Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching +Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching +Orphanet:79476 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS:C1859194 semapv:UnspecifiedMatching +Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref MESH:C537302 semapv:UnspecifiedMatching +Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching +Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref UMLS:C1868679 semapv:UnspecifiedMatching +Orphanet:79477 Griscelli syndrome type 2 oboInOwl:hasDbXref icd11:4A01.23 semapv:UnspecifiedMatching +Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref MESH:C537303 semapv:UnspecifiedMatching +Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching +Orphanet:79478 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS:C1836573 semapv:UnspecifiedMatching +Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref ICD10:L10.1 semapv:UnspecifiedMatching +Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref ICD10:L10.1 semapv:UnspecifiedMatching +Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref MedDRA:10057053 semapv:UnspecifiedMatching +Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref UMLS:C0263316 semapv:UnspecifiedMatching +Orphanet:79479 Pemphigus vegetans oboInOwl:hasDbXref icd11:EB40.0Y semapv:UnspecifiedMatching +Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref ICD10:L10.4 semapv:UnspecifiedMatching +Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref ICD10:L10.4 semapv:UnspecifiedMatching +Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref MedDRA:10058917 semapv:UnspecifiedMatching +Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref UMLS:C0263312 semapv:UnspecifiedMatching +Orphanet:79480 Pemphigus erythematosus oboInOwl:hasDbXref icd11:EB40.1 semapv:UnspecifiedMatching +Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.2 semapv:UnspecifiedMatching +Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.2 semapv:UnspecifiedMatching +Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref MedDRA:10057069 semapv:UnspecifiedMatching +Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263313 semapv:UnspecifiedMatching +Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref icd11:EB40.1 semapv:UnspecifiedMatching +Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:304200 semapv:UnspecifiedMatching +Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0795848 semapv:UnspecifiedMatching +Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref UMLS:C3838883 semapv:UnspecifiedMatching +Orphanet:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:79484 Phakomatosis cesiomarmorata oboInOwl:hasDbXref UMLS:C3839296 semapv:UnspecifiedMatching +Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref UMLS:C3839763 semapv:UnspecifiedMatching +Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching +Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref UMLS:C0205828 semapv:UnspecifiedMatching +Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref icd11:LA90.10 semapv:UnspecifiedMatching +Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching +Orphanet:79490 Microcystic lymphatic malformation oboInOwl:hasDbXref UMLS:C4738056 semapv:UnspecifiedMatching +Orphanet:79492 Pili gemini oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching +Orphanet:79492 Pili gemini oboInOwl:hasDbXref MESH:C537188 semapv:UnspecifiedMatching +Orphanet:79492 Pili gemini oboInOwl:hasDbXref UMLS:C0019571 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref MedDRA:10087912 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:132700 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:601606 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:612099 semapv:UnspecifiedMatching +Orphanet:79493 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS:C1857941 semapv:UnspecifiedMatching +Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref ICD10:Q84.2 semapv:UnspecifiedMatching +Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref MESH:C538388 semapv:UnspecifiedMatching +Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref OMIM:307150 semapv:UnspecifiedMatching +Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref UMLS:C1855900 semapv:UnspecifiedMatching +Orphanet:79495 X-linked congenital generalized hypertrichosis oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref MESH:C567274 semapv:UnspecifiedMatching +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref UMLS:C2675730 semapv:UnspecifiedMatching +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:795 Rare form of salmonellosis oboInOwl:hasDbXref MedDRA:10039447 semapv:UnspecifiedMatching +Orphanet:795 Rare form of salmonellosis oboInOwl:hasDbXref UMLS:C5680518 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref MESH:C563052 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref MedDRA:10080835 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref UMLS:C0795934 semapv:UnspecifiedMatching +Orphanet:79500 DOORS syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref MESH:C536161 semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:148600 semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref OMIM:614936 semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref UMLS:C1835662 semapv:UnspecifiedMatching +Orphanet:79501 Punctate palmoplantar keratoderma type 1 oboInOwl:hasDbXref icd11:EC20.32 semapv:UnspecifiedMatching +Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref MESH:C536338 semapv:UnspecifiedMatching +Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref OMIM:175860 semapv:UnspecifiedMatching +Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref UMLS:C1867982 semapv:UnspecifiedMatching +Orphanet:79502 Punctate palmoplantar keratoderma type 2 oboInOwl:hasDbXref icd11:EC20.32 semapv:UnspecifiedMatching +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref MESH:C536088 semapv:UnspecifiedMatching +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref OMIM:146590 semapv:UnspecifiedMatching +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref UMLS:C1840296 semapv:UnspecifiedMatching +Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching +Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching +Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref MESH:C536087 semapv:UnspecifiedMatching +Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref OMIM:146600 semapv:UnspecifiedMatching +Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref UMLS:C0432311 semapv:UnspecifiedMatching +Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ICD10:E78.4 semapv:UnspecifiedMatching +Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ICD10:E78.4 semapv:UnspecifiedMatching +Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref OMIM:143470 semapv:UnspecifiedMatching +Orphanet:79506 Cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref icd11:5C80.3 semapv:UnspecifiedMatching +Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref MESH:C565439 semapv:UnspecifiedMatching +Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref OMIM:614037 semapv:UnspecifiedMatching +Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome oboInOwl:hasDbXref UMLS:C3279662 semapv:UnspecifiedMatching +Orphanet:796 Sandhoff disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:796 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching +Orphanet:796 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching +Orphanet:796 Sandhoff disease oboInOwl:hasDbXref UMLS:C0036161 semapv:UnspecifiedMatching +Orphanet:796 Sandhoff disease oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching +Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency oboInOwl:hasDbXref UMLS:C5191077 semapv:UnspecifiedMatching +Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching +Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching +Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency oboInOwl:hasDbXref UMLS:C5191078 semapv:UnspecifiedMatching +Orphanet:79651 Mild hyperphenylalaninemia oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:79651 Mild hyperphenylalaninemia oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching +Orphanet:79651 Mild hyperphenylalaninemia oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching +Orphanet:79651 Mild hyperphenylalaninemia oboInOwl:hasDbXref UMLS:C5680207 semapv:UnspecifiedMatching +Orphanet:79651 Mild hyperphenylalaninemia oboInOwl:hasDbXref icd11:5C50.0Y semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref MESH:D005736 semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref MedDRA:10017727 semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref UMLS:C0017097 semapv:UnspecifiedMatching +Orphanet:79665 Gardner syndrome oboInOwl:hasDbXref icd11:LD2D.3 semapv:UnspecifiedMatching +Orphanet:79669 Autoimmune bullous skin disease oboInOwl:hasDbXref UMLS:C5681494 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.0 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.1 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.2 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.3 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.8 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.8 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.9 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref ICD10:D86.9 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref MESH:D012507 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref MedDRA:10039486 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref OMIM:181000 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref OMIM:612387 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref OMIM:612388 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref UMLS:C0036202 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.1 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.2 semapv:UnspecifiedMatching +Orphanet:797 Sarcoidosis oboInOwl:hasDbXref icd11:4B20.3 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref MESH:C536632 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref MedDRA:10063540 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref OMIM:269150 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref UMLS:C0265227 semapv:UnspecifiedMatching +Orphanet:798 Schinzel-Giedion syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref MESH:D065707 semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref MedDRA:10073487 semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref OMIM:269160 semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref UMLS:C0266484 semapv:UnspecifiedMatching +Orphanet:799 Schizencephaly oboInOwl:hasDbXref icd11:LA05.61 semapv:UnspecifiedMatching +Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref ICD10:Q98.5 semapv:UnspecifiedMatching +Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref MESH:C535317 semapv:UnspecifiedMatching +Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref MedDRA:10056894 semapv:UnspecifiedMatching +Orphanet:8 47,XYY syndrome oboInOwl:hasDbXref UMLS:C3266843 semapv:UnspecifiedMatching +Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching +Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref ICD10:D68.6 semapv:UnspecifiedMatching +Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref MESH:D016736 semapv:UnspecifiedMatching +Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref MedDRA:10002817 semapv:UnspecifiedMatching +Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C0085278 semapv:UnspecifiedMatching +Orphanet:80 Antiphospholipid syndrome oboInOwl:hasDbXref icd11:4A45 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref MedDRA:10082378 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref OMIM:255800 semapv:UnspecifiedMatching +Orphanet:800 Schwartz-Jampel syndrome oboInOwl:hasDbXref UMLS:C0036391 semapv:UnspecifiedMatching +Orphanet:801 Scleroderma oboInOwl:hasDbXref MedDRA:10039710 semapv:UnspecifiedMatching +Orphanet:801 Scleroderma oboInOwl:hasDbXref UMLS:C0011644 semapv:UnspecifiedMatching +Orphanet:802 NON RARE IN EUROPE: Multiple sclerosis oboInOwl:hasDbXref ICD10:G35 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref MedDRA:10002026 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:105400 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:205250 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:300857 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:606070 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:606640 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608030 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608031 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:608627 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:611895 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:612069 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:612577 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:613435 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:614808 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:615426 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:615515 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:616208 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617839 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617892 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:617921 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIM:619141 semapv:UnspecifiedMatching +Orphanet:803 Amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C0002736 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref ICD10:Q85.1 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref ICD10:Q85.1 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref MESH:D014402 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref MedDRA:10045138 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref OMIM:191100 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref OMIM:613254 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref UMLS:C0041341 semapv:UnspecifiedMatching +Orphanet:805 Tuberous sclerosis complex oboInOwl:hasDbXref icd11:LD2D.2 semapv:UnspecifiedMatching +Orphanet:806 Scott syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:806 Scott syndrome oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:806 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMatching +Orphanet:806 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching +Orphanet:806 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 semapv:UnspecifiedMatching +Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref MESH:C537531 semapv:UnspecifiedMatching +Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref UMLS:C1854520 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref MESH:C537533 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:210600 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:606744 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:613676 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:613823 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:614728 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:614851 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:615807 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:616777 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref OMIM:617523 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref UMLS:C0265202 semapv:UnspecifiedMatching +Orphanet:808 Seckel syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MedDRA:10027754 semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref UMLS:C0026272 semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref icd11:1A30 semapv:UnspecifiedMatching +Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MESH:C537778 semapv:UnspecifiedMatching +Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MedDRA:10068801 semapv:UnspecifiedMatching +Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref UMLS:C2609059 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.0 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.1 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.2 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.3 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.8 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.8 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.9 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref ICD10:A03.9 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref MedDRA:10054178 semapv:UnspecifiedMatching +Orphanet:810 Shigellosis oboInOwl:hasDbXref UMLS:C0013371 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref MESH:D000081003 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref MedDRA:10067940 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:617941 semapv:UnspecifiedMatching +Orphanet:811 Shwachman-Diamond syndrome oboInOwl:hasDbXref UMLS:C0272170 semapv:UnspecifiedMatching +Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching +Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref UMLS:C0023806 semapv:UnspecifiedMatching +Orphanet:812 Sialidosis type 1 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref MedDRA:10062282 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:312780 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:616489 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref UMLS:C0175693 semapv:UnspecifiedMatching +Orphanet:813 Silver-Russell syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref MedDRA:10048676 semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 semapv:UnspecifiedMatching +Orphanet:816 Sjögren-Larsson syndrome oboInOwl:hasDbXref UMLS:C0037231 semapv:UnspecifiedMatching +Orphanet:817 Peeling skin syndrome oboInOwl:hasDbXref MESH:C564818 semapv:UnspecifiedMatching +Orphanet:817 Peeling skin syndrome oboInOwl:hasDbXref UMLS:C1849193 semapv:UnspecifiedMatching +Orphanet:817 Peeling skin syndrome oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MESH:D019082 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MedDRA:10078573 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref OMIM:270400 semapv:UnspecifiedMatching +Orphanet:818 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS:C0175694 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref MESH:D058496 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref MedDRA:10081680 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref OMIM:182290 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref UMLS:C0795864 semapv:UnspecifiedMatching +Orphanet:819 Smith-Magenis syndrome oboInOwl:hasDbXref icd11:LD44.H1 semapv:UnspecifiedMatching +Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref ICD10:D68.5 semapv:UnspecifiedMatching +Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref OMIM:613118 semapv:UnspecifiedMatching +Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref UMLS:C5679844 semapv:UnspecifiedMatching +Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MedDRA:10053841 semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching +Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 semapv:UnspecifiedMatching +Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref UMLS:C1845235 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref MedDRA:10064387 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref OMIM:117550 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref OMIM:617169 semapv:UnspecifiedMatching +Orphanet:821 Sotos syndrome oboInOwl:hasDbXref UMLS:C0175695 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref ICD10:D58.0 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MESH:D013103 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref MedDRA:10019904 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:182900 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:270970 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612653 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:612690 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref OMIM:616649 semapv:UnspecifiedMatching +Orphanet:822 Hereditary spherocytosis oboInOwl:hasDbXref UMLS:C0037889 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MESH:D016135 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref MedDRA:10041524 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:182940 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching +Orphanet:823 Spina bifida and other spinal dysraphisms oboInOwl:hasDbXref UMLS:C5680973 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref ICD10:D47.4 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref ICD10:D47.4 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref MESH:D055728 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref MedDRA:10077161 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref OMIM:254450 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref UMLS:C0001815 semapv:UnspecifiedMatching +Orphanet:824 Primary myelofibrosis oboInOwl:hasDbXref icd11:2A20.2 semapv:UnspecifiedMatching +Orphanet:825 NON RARE IN EUROPE: Ankylosing spondylitis oboInOwl:hasDbXref ICD10:M45 semapv:UnspecifiedMatching +Orphanet:825 NON RARE IN EUROPE: Ankylosing spondylitis oboInOwl:hasDbXref ICD10:M45 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.0 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.0 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.1 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.7 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.8 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.8 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.9 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref ICD10:B42.9 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref MESH:D013174 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref MedDRA:10041736 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref UMLS:C0038034 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.0 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.1 semapv:UnspecifiedMatching +Orphanet:826 Sporotrichosis oboInOwl:hasDbXref icd11:1F2J.2 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref MESH:D000080362 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref MedDRA:10062766 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:248200 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:600110 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref OMIM:603786 semapv:UnspecifiedMatching +Orphanet:827 Stargardt disease oboInOwl:hasDbXref UMLS:C0271093 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref MedDRA:10063402 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614134 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref OMIM:614284 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref UMLS:C0265253 semapv:UnspecifiedMatching +Orphanet:828 Stickler syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref ICD10:M06.1 semapv:UnspecifiedMatching +Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MESH:D016706 semapv:UnspecifiedMatching +Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref MedDRA:10064056 semapv:UnspecifiedMatching +Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref UMLS:C0085253 semapv:UnspecifiedMatching +Orphanet:829 Adult-onset Still disease oboInOwl:hasDbXref icd11:FA23 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref MESH:D054882 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref MedDRA:10083864 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching +Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref UMLS:C5234850 semapv:UnspecifiedMatching +Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref UMLS:C4749275 semapv:UnspecifiedMatching +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref MESH:C537527 semapv:UnspecifiedMatching +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref OMIM:245050 semapv:UnspecifiedMatching +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency oboInOwl:hasDbXref UMLS:C0342792 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref UMLS:C4275019 semapv:UnspecifiedMatching +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref ICD10:A77.0 semapv:UnspecifiedMatching +Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MESH:D012373 semapv:UnspecifiedMatching +Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref MedDRA:10039207 semapv:UnspecifiedMatching +Orphanet:83311 Rocky Mountain spotted fever oboInOwl:hasDbXref UMLS:C0035793 semapv:UnspecifiedMatching +Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref ICD10:A79.1 semapv:UnspecifiedMatching +Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching +Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref MedDRA:10039137 semapv:UnspecifiedMatching +Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref UMLS:C0035597 semapv:UnspecifiedMatching +Orphanet:83312 Rickettsialpox oboInOwl:hasDbXref icd11:1C32 semapv:UnspecifiedMatching +Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref ICD10:A77.1 semapv:UnspecifiedMatching +Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref MESH:D001907 semapv:UnspecifiedMatching +Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref MedDRA:10006045 semapv:UnspecifiedMatching +Orphanet:83313 Boutonneuse fever oboInOwl:hasDbXref UMLS:C0006060 semapv:UnspecifiedMatching +Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching +Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching +Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching +Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref MedDRA:10014979 semapv:UnspecifiedMatching +Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref UMLS:C0041473 semapv:UnspecifiedMatching +Orphanet:83314 Epidemic typhus oboInOwl:hasDbXref icd11:1C30.0 semapv:UnspecifiedMatching +Orphanet:83315 Murine typhus oboInOwl:hasDbXref ICD10:A75.2 semapv:UnspecifiedMatching +Orphanet:83315 Murine typhus oboInOwl:hasDbXref MESH:D014437 semapv:UnspecifiedMatching +Orphanet:83315 Murine typhus oboInOwl:hasDbXref MedDRA:10028282 semapv:UnspecifiedMatching +Orphanet:83315 Murine typhus oboInOwl:hasDbXref UMLS:C0041472 semapv:UnspecifiedMatching +Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref ICD10:A79.8 semapv:UnspecifiedMatching +Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref ICD10:A79.8 semapv:UnspecifiedMatching +Orphanet:83316 Pseudotyphus of California oboInOwl:hasDbXref UMLS:C4706680 semapv:UnspecifiedMatching +Orphanet:83317 Scrub typhus oboInOwl:hasDbXref ICD10:A75.3 semapv:UnspecifiedMatching +Orphanet:83317 Scrub typhus oboInOwl:hasDbXref MESH:D012612 semapv:UnspecifiedMatching +Orphanet:83317 Scrub typhus oboInOwl:hasDbXref MedDRA:10039766 semapv:UnspecifiedMatching +Orphanet:83317 Scrub typhus oboInOwl:hasDbXref UMLS:C0036472 semapv:UnspecifiedMatching +Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching +Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref ICD10:G12.0 semapv:UnspecifiedMatching +Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching +Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref UMLS:C0043116 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MESH:C538523 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067529 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067531 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching +Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref UMLS:C2931872 semapv:UnspecifiedMatching +Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching +Orphanet:83418 Proximal spinal muscular atrophy type 2 oboInOwl:hasDbXref UMLS:C0393538 semapv:UnspecifiedMatching +Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching +Orphanet:83419 Proximal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS:C0152109 semapv:UnspecifiedMatching +Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref MESH:C563948 semapv:UnspecifiedMatching +Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching +Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS:C1838230 semapv:UnspecifiedMatching +Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching +Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching +Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching +Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref UMLS:C0206554 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.4 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref ICD10:D16.5 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref MESH:C537063 semapv:UnspecifiedMatching +Orphanet:83451 Florid cemento-osseous dysplasia oboInOwl:hasDbXref UMLS:C0555197 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref MESH:D020918 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref MedDRA:10064332 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref UMLS:C0458219 semapv:UnspecifiedMatching +Orphanet:83452 Complex regional pain syndrome oboInOwl:hasDbXref icd11:MG30.04 semapv:UnspecifiedMatching +Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching +Orphanet:83453 Vulvovaginal gingival syndrome oboInOwl:hasDbXref UMLS:C3873472 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref ICD10:Q27.8 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref MESH:C536827 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref MedDRA:10018381 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref OMIM:138000 semapv:UnspecifiedMatching +Orphanet:83454 Glomuvenous malformation oboInOwl:hasDbXref UMLS:C1841984 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref ICD10:Q12.3 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref MESH:C537786 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref MedDRA:10002947 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching +Orphanet:83461 Congenital primary aphakia oboInOwl:hasDbXref UMLS:C1853230 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref ICD10:Q17.2 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref ICD10:Q17.2 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref MESH:D065817 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref MedDRA:10027555 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref OMIM:128800 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref OMIM:600674 semapv:UnspecifiedMatching +Orphanet:83463 Microtia oboInOwl:hasDbXref UMLS:C0152423 semapv:UnspecifiedMatching +Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching +Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref ICD10:G47.4 semapv:UnspecifiedMatching +Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref UMLS:C1456240 semapv:UnspecifiedMatching +Orphanet:83465 Narcolepsy type 2 oboInOwl:hasDbXref icd11:7A20.1 semapv:UnspecifiedMatching +Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref MedDRA:10075006 semapv:UnspecifiedMatching +Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref UMLS:C3854373 semapv:UnspecifiedMatching +Orphanet:83467 Morvan syndrome oboInOwl:hasDbXref icd11:8E4A.3 semapv:UnspecifiedMatching +Orphanet:83468 Solitary bone cyst oboInOwl:hasDbXref ICD10:M85.4 semapv:UnspecifiedMatching +Orphanet:83468 Solitary bone cyst oboInOwl:hasDbXref ICD10:M85.4 semapv:UnspecifiedMatching +Orphanet:83468 Solitary bone cyst oboInOwl:hasDbXref UMLS:C0005937 semapv:UnspecifiedMatching +Orphanet:83468 Solitary bone cyst oboInOwl:hasDbXref icd11:FB80.5 semapv:UnspecifiedMatching +Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching +Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching +Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MESH:D058405 semapv:UnspecifiedMatching +Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref MedDRA:10064581 semapv:UnspecifiedMatching +Orphanet:83469 Desmoplastic small round cell tumor oboInOwl:hasDbXref UMLS:C0281508 semapv:UnspecifiedMatching +Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref ICD10:D81.4 semapv:UnspecifiedMatching +Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref MESH:C536288 semapv:UnspecifiedMatching +Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref OMIM:242700 semapv:UnspecifiedMatching +Orphanet:83471 T-cell immunodeficiency with thymic aplasia oboInOwl:hasDbXref UMLS:C0152094 semapv:UnspecifiedMatching +Orphanet:83472 CAMOS syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:83472 CAMOS syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:83472 CAMOS syndrome oboInOwl:hasDbXref OMIM:606937 semapv:UnspecifiedMatching +Orphanet:83472 CAMOS syndrome oboInOwl:hasDbXref UMLS:C4511633 semapv:UnspecifiedMatching +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:603387 semapv:UnspecifiedMatching +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:615937 semapv:UnspecifiedMatching +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:615938 semapv:UnspecifiedMatching +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome oboInOwl:hasDbXref UMLS:C4302893 semapv:UnspecifiedMatching +Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref ICD10:A92.3 semapv:UnspecifiedMatching +Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref ICD10:A92.3 semapv:UnspecifiedMatching +Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching +Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref OMIM:610379 semapv:UnspecifiedMatching +Orphanet:83476 West-Nile encephalitis oboInOwl:hasDbXref UMLS:C0751583 semapv:UnspecifiedMatching +Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref ICD10:B96.0 semapv:UnspecifiedMatching +Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref ICD10:B96.0 semapv:UnspecifiedMatching +Orphanet:83482 Mycoplasma encephalitis oboInOwl:hasDbXref UMLS:C4707240 semapv:UnspecifiedMatching +Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref ICD10:A83.5 semapv:UnspecifiedMatching +Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref MESH:D004670 semapv:UnspecifiedMatching +Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref MedDRA:10014584 semapv:UnspecifiedMatching +Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref UMLS:C0276379 semapv:UnspecifiedMatching +Orphanet:83483 La Crosse encephalitis oboInOwl:hasDbXref icd11:1C8D semapv:UnspecifiedMatching +Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref ICD10:A83.3 semapv:UnspecifiedMatching +Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref ICD10:A83.3 semapv:UnspecifiedMatching +Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref MESH:D004674 semapv:UnspecifiedMatching +Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref MedDRA:10041896 semapv:UnspecifiedMatching +Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref UMLS:C0014060 semapv:UnspecifiedMatching +Orphanet:83484 St. Louis encephalitis oboInOwl:hasDbXref icd11:1C86 semapv:UnspecifiedMatching +Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref ICD10:A83.1 semapv:UnspecifiedMatching +Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref ICD10:A83.1 semapv:UnspecifiedMatching +Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref MESH:D020241 semapv:UnspecifiedMatching +Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref MedDRA:10014614 semapv:UnspecifiedMatching +Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref UMLS:C0153064 semapv:UnspecifiedMatching +Orphanet:83593 Western equine encephalitis oboInOwl:hasDbXref icd11:1C83 semapv:UnspecifiedMatching +Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref ICD10:A83.2 semapv:UnspecifiedMatching +Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref ICD10:A83.2 semapv:UnspecifiedMatching +Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref MESH:D020242 semapv:UnspecifiedMatching +Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref MedDRA:10014587 semapv:UnspecifiedMatching +Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref UMLS:C0153065 semapv:UnspecifiedMatching +Orphanet:83594 Eastern equine encephalitis oboInOwl:hasDbXref icd11:1C84 semapv:UnspecifiedMatching +Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref ICD10:A93.2 semapv:UnspecifiedMatching +Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref ICD10:A93.2 semapv:UnspecifiedMatching +Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref MESH:D003121 semapv:UnspecifiedMatching +Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref MedDRA:10010022 semapv:UnspecifiedMatching +Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref UMLS:C0009400 semapv:UnspecifiedMatching +Orphanet:83595 Colorado tick fever oboInOwl:hasDbXref icd11:1D41 semapv:UnspecifiedMatching +Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching +Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching +Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref MESH:D004673 semapv:UnspecifiedMatching +Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref MedDRA:10000709 semapv:UnspecifiedMatching +Orphanet:83597 Acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS:C0014059 semapv:UnspecifiedMatching +Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching +Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref MedDRA:10052369 semapv:UnspecifiedMatching +Orphanet:83600 Encephalitis lethargica oboInOwl:hasDbXref UMLS:C0014040 semapv:UnspecifiedMatching +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref MESH:C535841 semapv:UnspecifiedMatching +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref MedDRA:10069432 semapv:UnspecifiedMatching +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref UMLS:C0393639 semapv:UnspecifiedMatching +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis oboInOwl:hasDbXref icd11:8E4A.0 semapv:UnspecifiedMatching +Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:B06.0+ semapv:UnspecifiedMatching +Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching +Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref ICD10:G05.1* semapv:UnspecifiedMatching +Orphanet:83616 Rubella panencephalitis oboInOwl:hasDbXref UMLS:C0238099 semapv:UnspecifiedMatching +Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref OMIM:610483 semapv:UnspecifiedMatching +Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref UMLS:C4302680 semapv:UnspecifiedMatching +Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching +Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching +Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref UMLS:C4509840 semapv:UnspecifiedMatching +Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref MESH:C563673 semapv:UnspecifiedMatching +Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref OMIM:610370 semapv:UnspecifiedMatching +Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref UMLS:C1835888 semapv:UnspecifiedMatching +Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref UMLS:C4510867 semapv:UnspecifiedMatching +Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:300232 semapv:UnspecifiedMatching +Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C4304743 semapv:UnspecifiedMatching +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref OMIM:610293 semapv:UnspecifiedMatching +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref UMLS:C4510605 semapv:UnspecifiedMatching +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency oboInOwl:hasDbXref icd11:3B61.0Y semapv:UnspecifiedMatching +Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref ICD10:D50.8 semapv:UnspecifiedMatching +Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref MESH:C567144 semapv:UnspecifiedMatching +Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref OMIM:206100 semapv:UnspecifiedMatching +Orphanet:83642 Microcytic anemia with liver iron overload oboInOwl:hasDbXref UMLS:C2673913 semapv:UnspecifiedMatching +Orphanet:838 Susac syndrome oboInOwl:hasDbXref ICD10:I67.7 semapv:UnspecifiedMatching +Orphanet:838 Susac syndrome oboInOwl:hasDbXref MESH:D055955 semapv:UnspecifiedMatching +Orphanet:838 Susac syndrome oboInOwl:hasDbXref MedDRA:10071573 semapv:UnspecifiedMatching +Orphanet:838 Susac syndrome oboInOwl:hasDbXref UMLS:C2717757 semapv:UnspecifiedMatching +Orphanet:838 Susac syndrome oboInOwl:hasDbXref icd11:8A45.2Y semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MESH:C535761 semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref MedDRA:10060740 semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref OMIM:256300 semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref UMLS:C0403399 semapv:UnspecifiedMatching +Orphanet:839 Congenital nephrotic syndrome, Finnish type oboInOwl:hasDbXref icd11:GB4Z semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref MESH:D005199 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref MedDRA:10055206 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:227645 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:227646 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:227650 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:300514 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:600901 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:603467 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:609053 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:609054 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:610832 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:613390 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:613951 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:614082 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:614083 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:615272 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:616435 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617243 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617244 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617247 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref OMIM:617883 semapv:UnspecifiedMatching +Orphanet:84 Fanconi anemia oboInOwl:hasDbXref UMLS:C0015625 semapv:UnspecifiedMatching +Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching +Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref MedDRA:10042926 semapv:UnspecifiedMatching +Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref UMLS:C0406803 semapv:UnspecifiedMatching +Orphanet:840 Syringocystadenoma papilliferum oboInOwl:hasDbXref icd11:LC0Y semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref MESH:C565627 semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:222470 semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref OMIM:614602 semapv:UnspecifiedMatching +Orphanet:84064 Syndromic diarrhea oboInOwl:hasDbXref UMLS:C1857276 semapv:UnspecifiedMatching +Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching +Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects oboInOwl:hasDbXref UMLS:C4274509 semapv:UnspecifiedMatching +Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref ICD10:Q61.8 semapv:UnspecifiedMatching +Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:613550 semapv:UnspecifiedMatching +Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref OMIM:616217 semapv:UnspecifiedMatching +Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref UMLS:C4274018 semapv:UnspecifiedMatching +Orphanet:84081 Senior-Boichis syndrome oboInOwl:hasDbXref icd11:GB8Y semapv:UnspecifiedMatching +Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatching +Orphanet:84085 Hinman syndrome oboInOwl:hasDbXref UMLS:C1997362 semapv:UnspecifiedMatching +Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching +Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching +Orphanet:84087 Collagen type III glomerulopathy oboInOwl:hasDbXref UMLS:C3872695 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref ICD10:N07.6 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref MESH:C536826 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:137950 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref OMIM:601894 semapv:UnspecifiedMatching +Orphanet:84090 Fibronectin glomerulopathy oboInOwl:hasDbXref UMLS:C3888104 semapv:UnspecifiedMatching +Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref MESH:C566575 semapv:UnspecifiedMatching +Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref OMIM:602107 semapv:UnspecifiedMatching +Orphanet:84093 Hereditary thermosensitive neuropathy oboInOwl:hasDbXref UMLS:C1865856 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref ICD10:L72.2 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref MESH:D062685 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref MedDRA:10048905 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref OMIM:184500 semapv:UnspecifiedMatching +Orphanet:841 Sebocystomatosis oboInOwl:hasDbXref UMLS:C0259771 semapv:UnspecifiedMatching +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions oboInOwl:hasDbXref UMLS:C4275073 semapv:UnspecifiedMatching +Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref MESH:D020386 semapv:UnspecifiedMatching +Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref UMLS:C0242287 semapv:UnspecifiedMatching +Orphanet:84142 Isaacs syndrome oboInOwl:hasDbXref icd11:8C71.4 semapv:UnspecifiedMatching +Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching +Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C5551428 semapv:UnspecifiedMatching +Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref icd11:2C80.2 semapv:UnspecifiedMatching +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MESH:D008151 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MedDRA:10024984 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 semapv:UnspecifiedMatching +Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C0024054 semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref ICD10:E75.0 semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref MedDRA:10043147 semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C0039373 semapv:UnspecifiedMatching +Orphanet:845 Tay-Sachs disease oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MedDRA:10043390 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref UMLS:C0002312 semapv:UnspecifiedMatching +Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref icd11:3A50.0 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref MESH:C538258 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10082291 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1845055 semapv:UnspecifiedMatching +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref icd11:3A50.1 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MedDRA:10043391 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref UMLS:C0005283 semapv:UnspecifiedMatching +Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching +Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching +Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:273800 semapv:UnspecifiedMatching +Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref OMIM:619267 semapv:UnspecifiedMatching +Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref UMLS:C0040015 semapv:UnspecifiedMatching +Orphanet:849 Glanzmann thrombasthenia oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref MedDRA:10081457 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:619789 semapv:UnspecifiedMatching +Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C0002876 semapv:UnspecifiedMatching +Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching +Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching +Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:188025 semapv:UnspecifiedMatching +Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:617443 semapv:UnspecifiedMatching +Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref UMLS:C1956093 semapv:UnspecifiedMatching +Orphanet:85102 Perineurioma oboInOwl:hasDbXref UMLS:C0751691 semapv:UnspecifiedMatching +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref MESH:C536841 semapv:UnspecifiedMatching +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 semapv:UnspecifiedMatching +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C1858680 semapv:UnspecifiedMatching +Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref ICD10:Q56.0 semapv:UnspecifiedMatching +Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref OMIM:610644 semapv:UnspecifiedMatching +Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome oboInOwl:hasDbXref UMLS:C5680209 semapv:UnspecifiedMatching +Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref MESH:C564392 semapv:UnspecifiedMatching +Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref OMIM:607475 semapv:UnspecifiedMatching +Orphanet:85128 Bothnia retinal dystrophy oboInOwl:hasDbXref UMLS:C1843816 semapv:UnspecifiedMatching +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref MESH:C567845 semapv:UnspecifiedMatching +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref OMIM:612951 semapv:UnspecifiedMatching +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly oboInOwl:hasDbXref UMLS:C2751843 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref MESH:D000224 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref MedDRA:10001130 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref OMIM:103230 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref OMIM:240200 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref UMLS:C0001403 semapv:UnspecifiedMatching +Orphanet:85138 Addison disease oboInOwl:hasDbXref icd11:5A74.0 semapv:UnspecifiedMatching +Orphanet:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching +Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref MESH:C566695 semapv:UnspecifiedMatching +Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref OMIM:181400 semapv:UnspecifiedMatching +Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type oboInOwl:hasDbXref UMLS:C1867005 semapv:UnspecifiedMatching +Orphanet:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:85162 Facial onset sensory and motor neuronopathy oboInOwl:hasDbXref UMLS:C4509818 semapv:UnspecifiedMatching +Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref MESH:C567166 semapv:UnspecifiedMatching +Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref OMIM:610532 semapv:UnspecifiedMatching +Orphanet:85163 Hypomyelination-congenital cataract syndrome oboInOwl:hasDbXref UMLS:C1864663 semapv:UnspecifiedMatching +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref MESH:C537975 semapv:UnspecifiedMatching +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 semapv:UnspecifiedMatching +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS:C1864852 semapv:UnspecifiedMatching +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q77.4 semapv:UnspecifiedMatching +Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref MedDRA:10082381 semapv:UnspecifiedMatching +Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:616482 semapv:UnspecifiedMatching +Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2674173 semapv:UnspecifiedMatching +Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref MESH:C563627 semapv:UnspecifiedMatching +Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref OMIM:151210 semapv:UnspecifiedMatching +Orphanet:85166 Platyspondylic dysplasia, Torrance type oboInOwl:hasDbXref UMLS:C1835437 semapv:UnspecifiedMatching +Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref OMIM:608940 semapv:UnspecifiedMatching +Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref UMLS:C4304887 semapv:UnspecifiedMatching +Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:85168 Craniofacial conodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:85168 Craniofacial conodysplasia oboInOwl:hasDbXref UMLS:C4303862 semapv:UnspecifiedMatching +Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref ICD10:M06.8 semapv:UnspecifiedMatching +Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref ICD10:M06.8 semapv:UnspecifiedMatching +Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref MESH:C564656 semapv:UnspecifiedMatching +Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref OMIM:606835 semapv:UnspecifiedMatching +Orphanet:85169 Familial digital arthropathy-brachydactyly oboInOwl:hasDbXref UMLS:C1847406 semapv:UnspecifiedMatching +Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref MESH:C565349 semapv:UnspecifiedMatching +Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref OMIM:605274 semapv:UnspecifiedMatching +Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref UMLS:C1854470 semapv:UnspecifiedMatching +Orphanet:85170 Mesomelic dysplasia, Savarirayan type oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref OMIM:618150 semapv:UnspecifiedMatching +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref UMLS:C4509877 semapv:UnspecifiedMatching +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref MESH:C564543 semapv:UnspecifiedMatching +Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching +Orphanet:85173 IMAGe syndrome oboInOwl:hasDbXref UMLS:C1846009 semapv:UnspecifiedMatching +Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref MESH:C535826 semapv:UnspecifiedMatching +Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref OMIM:264180 semapv:UnspecifiedMatching +Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref UMLS:C0432206 semapv:UnspecifiedMatching +Orphanet:85174 Pseudodiastrophic dysplasia oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref MESH:C535392 semapv:UnspecifiedMatching +Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref UMLS:C1300228 semapv:UnspecifiedMatching +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:600329 semapv:UnspecifiedMatching +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref UMLS:C4510764 semapv:UnspecifiedMatching +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref MESH:C536169 semapv:UnspecifiedMatching +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref OMIM:112250 semapv:UnspecifiedMatching +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref UMLS:C1862177 semapv:UnspecifiedMatching +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref OMIM:269300 semapv:UnspecifiedMatching +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref UMLS:C4510809 semapv:UnspecifiedMatching +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref MESH:C535353 semapv:UnspecifiedMatching +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref OMIM:614381 semapv:UnspecifiedMatching +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref UMLS:C3280644 semapv:UnspecifiedMatching +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref MESH:C565271 semapv:UnspecifiedMatching +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref OMIM:605946 semapv:UnspecifiedMatching +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref UMLS:C1853825 semapv:UnspecifiedMatching +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref MESH:C537343 semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref OMIM:182250 semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref OMIM:616298 semapv:UnspecifiedMatching +Orphanet:85191 Singleton-Merten dysplasia oboInOwl:hasDbXref UMLS:C0432254 semapv:UnspecifiedMatching +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref MESH:C565089 semapv:UnspecifiedMatching +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref OMIM:126550 semapv:UnspecifiedMatching +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome oboInOwl:hasDbXref UMLS:C1852022 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD10:M81.5 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD10:M81.5 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref MESH:C537700 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref MedDRA:10088561 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:259750 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:615221 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS:C0264080 semapv:UnspecifiedMatching +Orphanet:85193 Idiopathic juvenile osteoporosis oboInOwl:hasDbXref icd11:FB83.1Y semapv:UnspecifiedMatching +Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref OMIM:605822 semapv:UnspecifiedMatching +Orphanet:85194 Spondylo-ocular syndrome oboInOwl:hasDbXref UMLS:C4225412 semapv:UnspecifiedMatching +Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching +Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching +Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 semapv:UnspecifiedMatching +Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching +Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref UMLS:C5438970 semapv:UnspecifiedMatching +Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref UMLS:C4302548 semapv:UnspecifiedMatching +Orphanet:85198 Dysspondyloenchondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref MESH:C536789 semapv:UnspecifiedMatching +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref OMIM:603116 semapv:UnspecifiedMatching +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref UMLS:C1864186 semapv:UnspecifiedMatching +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching +Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching +Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref UMLS:C5548213 semapv:UnspecifiedMatching +Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching +Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref UMLS:C4274732 semapv:UnspecifiedMatching +Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref MESH:C565255 semapv:UnspecifiedMatching +Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref OMIM:606170 semapv:UnspecifiedMatching +Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref UMLS:C1853566 semapv:UnspecifiedMatching +Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:85202 Keutel syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85202 Keutel syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85202 Keutel syndrome oboInOwl:hasDbXref MESH:C536167 semapv:UnspecifiedMatching +Orphanet:85202 Keutel syndrome oboInOwl:hasDbXref OMIM:245150 semapv:UnspecifiedMatching +Orphanet:85202 Keutel syndrome oboInOwl:hasDbXref UMLS:C1855607 semapv:UnspecifiedMatching +Orphanet:85202 Keutel syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref MESH:C535664 semapv:UnspecifiedMatching +Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref OMIM:605967 semapv:UnspecifiedMatching +Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref UMLS:C1853812 semapv:UnspecifiedMatching +Orphanet:85203 Acropectoral syndrome oboInOwl:hasDbXref icd11:LB73.13 semapv:UnspecifiedMatching +Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref MESH:C564306 semapv:UnspecifiedMatching +Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching +Orphanet:85212 Fetal Gaucher disease oboInOwl:hasDbXref UMLS:C1842704 semapv:UnspecifiedMatching +Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref MESH:C535556 semapv:UnspecifiedMatching +Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref OMIM:300262 semapv:UnspecifiedMatching +Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref UMLS:C4305021 semapv:UnspecifiedMatching +Orphanet:85273 X-linked intellectual disability, Abidi type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref MESH:C537449 semapv:UnspecifiedMatching +Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref OMIM:300218 semapv:UnspecifiedMatching +Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS:C1846170 semapv:UnspecifiedMatching +Orphanet:85274 Syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1844948 semapv:UnspecifiedMatching +Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref OMIM:300261 semapv:UnspecifiedMatching +Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref UMLS:C4305022 semapv:UnspecifiedMatching +Orphanet:85276 X-linked intellectual disability, Armfield type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref OMIM:300912 semapv:UnspecifiedMatching +Orphanet:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref UMLS:C4305023 semapv:UnspecifiedMatching +Orphanet:85277 X-linked intellectual disability, Cantagrel type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85278 Christianson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85278 Christianson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85278 Christianson syndrome oboInOwl:hasDbXref MESH:C567484 semapv:UnspecifiedMatching +Orphanet:85278 Christianson syndrome oboInOwl:hasDbXref OMIM:300243 semapv:UnspecifiedMatching +Orphanet:85278 Christianson syndrome oboInOwl:hasDbXref UMLS:C2678194 semapv:UnspecifiedMatching +Orphanet:85278 Christianson syndrome oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref OMIM:300534 semapv:UnspecifiedMatching +Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref UMLS:C5681493 semapv:UnspecifiedMatching +Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref OMIM:300471 semapv:UnspecifiedMatching +Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304935 semapv:UnspecifiedMatching +Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85282 MEHMO syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85282 MEHMO syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85282 MEHMO syndrome oboInOwl:hasDbXref MESH:C537451 semapv:UnspecifiedMatching +Orphanet:85282 MEHMO syndrome oboInOwl:hasDbXref OMIM:300148 semapv:UnspecifiedMatching +Orphanet:85282 MEHMO syndrome oboInOwl:hasDbXref UMLS:C1846278 semapv:UnspecifiedMatching +Orphanet:85282 MEHMO syndrome oboInOwl:hasDbXref icd11:LD29 semapv:UnspecifiedMatching +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref MESH:C537472 semapv:UnspecifiedMatching +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref OMIM:314580 semapv:UnspecifiedMatching +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref UMLS:C4305025 semapv:UnspecifiedMatching +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85284 BRESEK syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85284 BRESEK syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85284 BRESEK syndrome oboInOwl:hasDbXref MESH:C564519 semapv:UnspecifiedMatching +Orphanet:85284 BRESEK syndrome oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching +Orphanet:85284 BRESEK syndrome oboInOwl:hasDbXref UMLS:C3502469 semapv:UnspecifiedMatching +Orphanet:85284 BRESEK syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref MESH:C536630 semapv:UnspecifiedMatching +Orphanet:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref OMIM:312840 semapv:UnspecifiedMatching +Orphanet:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref UMLS:C4305027 semapv:UnspecifiedMatching +Orphanet:85285 X-linked intellectual disability, Schimke type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref OMIM:300238 semapv:UnspecifiedMatching +Orphanet:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref UMLS:C4305085 semapv:UnspecifiedMatching +Orphanet:85286 X-linked intellectual disability, Shashi type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref MESH:C537333 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref MedDRA:10082377 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref OMIM:300263 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref UMLS:C4305078 semapv:UnspecifiedMatching +Orphanet:85287 X-linked intellectual disability, Siderius type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref OMIM:300434 semapv:UnspecifiedMatching +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref UMLS:C4305076 semapv:UnspecifiedMatching +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching +Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref OMIM:309545 semapv:UnspecifiedMatching +Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref UMLS:C4305028 semapv:UnspecifiedMatching +Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching +Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching +Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref MESH:C536760 semapv:UnspecifiedMatching +Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching +Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref MESH:C537316 semapv:UnspecifiedMatching +Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:301840 semapv:UnspecifiedMatching +Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C1844933 semapv:UnspecifiedMatching +Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching +Orphanet:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref UMLS:C1845861 semapv:UnspecifiedMatching +Orphanet:85293 X-linked intellectual disability, Cabezas type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref OMIM:300491 semapv:UnspecifiedMatching +Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome oboInOwl:hasDbXref UMLS:C4273990 semapv:UnspecifiedMatching +Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching +Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching +Orphanet:85295 HSD10 disease, atypical type oboInOwl:hasDbXref UMLS:C5680206 semapv:UnspecifiedMatching +Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref MESH:C537315 semapv:UnspecifiedMatching +Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref OMIM:301790 semapv:UnspecifiedMatching +Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref UMLS:C1844936 semapv:UnspecifiedMatching +Orphanet:85297 X-linked spinocerebellar ataxia type 3 oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref ICD10:P61.0 semapv:UnspecifiedMatching +Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref ICD10:P61.0 semapv:UnspecifiedMatching +Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref UMLS:C3854603 semapv:UnspecifiedMatching +Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia oboInOwl:hasDbXref icd11:3B64.00 semapv:UnspecifiedMatching +Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome oboInOwl:hasDbXref UMLS:C4304919 semapv:UnspecifiedMatching +Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304917 semapv:UnspecifiedMatching +Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome oboInOwl:hasDbXref UMLS:C4304406 semapv:UnspecifiedMatching +Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref MESH:C564495 semapv:UnspecifiedMatching +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref OMIM:300519 semapv:UnspecifiedMatching +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type oboInOwl:hasDbXref UMLS:C1845285 semapv:UnspecifiedMatching +Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref UMLS:C4305026 semapv:UnspecifiedMatching +Orphanet:85322 X-linked intellectual disability, Pai type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85323 X-linked intellectual disability, Seemanova type oboInOwl:hasDbXref UMLS:C4305088 semapv:UnspecifiedMatching +Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref MESH:C567474 semapv:UnspecifiedMatching +Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref OMIM:300709 semapv:UnspecifiedMatching +Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref UMLS:C2678039 semapv:UnspecifiedMatching +Orphanet:85324 X-linked intellectual disability, Shrimpton type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85325 X-linked intellectual disability, Stevenson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85325 X-linked intellectual disability, Stevenson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85325 X-linked intellectual disability, Stevenson type oboInOwl:hasDbXref UMLS:C4305077 semapv:UnspecifiedMatching +Orphanet:85325 X-linked intellectual disability, Stevenson type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85326 X-linked intellectual disability, Stoll type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85326 X-linked intellectual disability, Stoll type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85326 X-linked intellectual disability, Stoll type oboInOwl:hasDbXref UMLS:C4305075 semapv:UnspecifiedMatching +Orphanet:85326 X-linked intellectual disability, Stoll type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref UMLS:C4304407 semapv:UnspecifiedMatching +Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching +Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref UMLS:C2678046 semapv:UnspecifiedMatching +Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching +Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref UMLS:C4304918 semapv:UnspecifiedMatching +Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C537046 semapv:UnspecifiedMatching +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300578 semapv:UnspecifiedMatching +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C0795873 semapv:UnspecifiedMatching +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref UMLS:C2931491 semapv:UnspecifiedMatching +Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref UMLS:C4305133 semapv:UnspecifiedMatching +Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:85335 Fried syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85335 Fried syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:85335 Fried syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching +Orphanet:85335 Fried syndrome oboInOwl:hasDbXref UMLS:C4305134 semapv:UnspecifiedMatching +Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref UMLS:C4305135 semapv:UnspecifiedMatching +Orphanet:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref UMLS:C4305139 semapv:UnspecifiedMatching +Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref ICD10:I81 semapv:UnspecifiedMatching +Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref ICD10:I81 semapv:UnspecifiedMatching +Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref MedDRA:10036206 semapv:UnspecifiedMatching +Orphanet:854 Primitive portal vein thrombosis oboInOwl:hasDbXref UMLS:C0155773 semapv:UnspecifiedMatching +Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.3 semapv:UnspecifiedMatching +Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.3 semapv:UnspecifiedMatching +Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3890205 semapv:UnspecifiedMatching +Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.1 semapv:UnspecifiedMatching +Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.4 semapv:UnspecifiedMatching +Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.4 semapv:UnspecifiedMatching +Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref MESH:C536312 semapv:UnspecifiedMatching +Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C2931171 semapv:UnspecifiedMatching +Orphanet:85410 Oligoarticular juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.0 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.2 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref MedDRA:10042061 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref OMIM:618795 semapv:UnspecifiedMatching +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C0087031 semapv:UnspecifiedMatching +Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.0 semapv:UnspecifiedMatching +Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C4048747 semapv:UnspecifiedMatching +Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.1 semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:L40.5+ semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:L40.5+ semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M09.0* semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref MedDRA:10076674 semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3714758 semapv:UnspecifiedMatching +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24.2 semapv:UnspecifiedMatching +Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching +Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching +Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3495919 semapv:UnspecifiedMatching +Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref OMIM:262700 semapv:UnspecifiedMatching +Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome oboInOwl:hasDbXref UMLS:C4303613 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref ICD10:E85.9 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref MESH:D000075363 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref MedDRA:10036673 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref UMLS:C0268381 semapv:UnspecifiedMatching +Orphanet:85443 AL amyloidosis oboInOwl:hasDbXref icd11:5D00.0 semapv:UnspecifiedMatching +Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching +Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref MESH:C000718787 semapv:UnspecifiedMatching +Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref MedDRA:10039811 semapv:UnspecifiedMatching +Orphanet:85445 AA amyloidosis oboInOwl:hasDbXref UMLS:C3536715 semapv:UnspecifiedMatching +Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref ICD10:E85.3 semapv:UnspecifiedMatching +Orphanet:85446 Wild type ABeta2M amyloidosis oboInOwl:hasDbXref UMLS:C0268405 semapv:UnspecifiedMatching +Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching +Orphanet:85447 ATTRV30M amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching +Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref OMIM:105120 semapv:UnspecifiedMatching +Orphanet:85448 AGel amyloidosis oboInOwl:hasDbXref UMLS:C0936273 semapv:UnspecifiedMatching +Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching +Orphanet:85450 Hereditary amyloidosis with primary renal involvement oboInOwl:hasDbXref UMLS:C0268389 semapv:UnspecifiedMatching +Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref ICD10:E85.4 semapv:UnspecifiedMatching +Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching +Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref UMLS:C4275067 semapv:UnspecifiedMatching +Orphanet:85451 ATTRV122I amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:E85.0+ semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ICD10:L99.0* semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref MESH:C564461 semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching +Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C1845050 semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref UMLS:C1510489 semapv:UnspecifiedMatching +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching +Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching +Orphanet:856 NON RARE IN EUROPE: Tourette syndrome oboInOwl:hasDbXref ICD10:F95.2 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref MESH:C536974 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref OMIM:107480 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref OMIM:617466 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref UMLS:C0265246 semapv:UnspecifiedMatching +Orphanet:857 Townes-Brocks syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref ICD10:P37.1 semapv:UnspecifiedMatching +Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 semapv:UnspecifiedMatching +Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref MedDRA:10010652 semapv:UnspecifiedMatching +Orphanet:858 Congenital toxoplasmosis oboInOwl:hasDbXref UMLS:C0040560 semapv:UnspecifiedMatching +Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref ICD10:D51.2 semapv:UnspecifiedMatching +Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref MedDRA:10084086 semapv:UnspecifiedMatching +Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref OMIM:275350 semapv:UnspecifiedMatching +Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref UMLS:C0342701 semapv:UnspecifiedMatching +Orphanet:859 Transcobalamin deficiency oboInOwl:hasDbXref icd11:3A01.0 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref ICD10:I71.4 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching +Orphanet:86 Familial abdominal aortic aneurysm oboInOwl:hasDbXref UMLS:C4275172 semapv:UnspecifiedMatching +Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref OMIM:608808 semapv:UnspecifiedMatching +Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref OMIM:613854 semapv:UnspecifiedMatching +Orphanet:860 Congenitally uncorrected transposition of the great arteries oboInOwl:hasDbXref UMLS:C3531771 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:154500 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:248390 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:613717 semapv:UnspecifiedMatching +Orphanet:861 Treacher-Collins syndrome oboInOwl:hasDbXref OMIM:618939 semapv:UnspecifiedMatching +Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching +Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor oboInOwl:hasDbXref ICD10:G25.0 semapv:UnspecifiedMatching +Orphanet:863 Trichinellosis oboInOwl:hasDbXref ICD10:B75 semapv:UnspecifiedMatching +Orphanet:863 Trichinellosis oboInOwl:hasDbXref ICD10:B75 semapv:UnspecifiedMatching +Orphanet:863 Trichinellosis oboInOwl:hasDbXref MESH:D014235 semapv:UnspecifiedMatching +Orphanet:863 Trichinellosis oboInOwl:hasDbXref MedDRA:10044608 semapv:UnspecifiedMatching +Orphanet:863 Trichinellosis oboInOwl:hasDbXref UMLS:C0040896 semapv:UnspecifiedMatching +Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref MESH:C535748 semapv:UnspecifiedMatching +Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref OMIM:608093 semapv:UnspecifiedMatching +Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref UMLS:C2931004 semapv:UnspecifiedMatching +Orphanet:86309 DPAGT1-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMatching +Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref MESH:C536553 semapv:UnspecifiedMatching +Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref MedDRA:10044611 semapv:UnspecifiedMatching +Orphanet:864 Trichofolliculoma oboInOwl:hasDbXref UMLS:C0334262 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref ICD10:D23.5 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref OMIM:601606 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref OMIM:612099 semapv:UnspecifiedMatching +Orphanet:867 Familial multiple trichoepithelioma oboInOwl:hasDbXref UMLS:C1275122 semapv:UnspecifiedMatching +Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C564539 semapv:UnspecifiedMatching +Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching +Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1845987 semapv:UnspecifiedMatching +Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref MESH:C535568 semapv:UnspecifiedMatching +Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref OMIM:168860 semapv:UnspecifiedMatching +Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C1868577 semapv:UnspecifiedMatching +Orphanet:86795 Localized lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching +Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref UMLS:C4510874 semapv:UnspecifiedMatching +Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching +Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref OMIM:615512 semapv:UnspecifiedMatching +Orphanet:868 Triose phosphate-isomerase deficiency oboInOwl:hasDbXref UMLS:C0398562 semapv:UnspecifiedMatching +Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref OMIM:609308 semapv:UnspecifiedMatching +Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 oboInOwl:hasDbXref UMLS:C1836373 semapv:UnspecifiedMatching +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref ICD10:H31.2 semapv:UnspecifiedMatching +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref MESH:C566236 semapv:UnspecifiedMatching +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration oboInOwl:hasDbXref UMLS:C1862382 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:601068 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:607876 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:613608 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:615127 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref OMIM:615400 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref UMLS:C4273988 semapv:UnspecifiedMatching +Orphanet:86814 Benign adult familial myoclonic epilepsy oboInOwl:hasDbXref icd11:8A61.32 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q10.4 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q38.4 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD10:Q38.4 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref MESH:C562407 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching +Orphanet:86815 Aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS:C0158667 semapv:UnspecifiedMatching +Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref ICD10:R77.0 semapv:UnspecifiedMatching +Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref OMIM:616000 semapv:UnspecifiedMatching +Orphanet:86816 Congenital analbuminemia oboInOwl:hasDbXref UMLS:C4305253 semapv:UnspecifiedMatching +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref MESH:C567228 semapv:UnspecifiedMatching +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref OMIM:612631 semapv:UnspecifiedMatching +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency oboInOwl:hasDbXref UMLS:C2675459 semapv:UnspecifiedMatching +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref MESH:C564570 semapv:UnspecifiedMatching +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300194 semapv:UnspecifiedMatching +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref OMIM:300990 semapv:UnspecifiedMatching +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome oboInOwl:hasDbXref UMLS:C1846242 semapv:UnspecifiedMatching +Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching +Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref MESH:C565924 semapv:UnspecifiedMatching +Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 semapv:UnspecifiedMatching +Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref UMLS:C1859592 semapv:UnspecifiedMatching +Orphanet:86819 Atrichia with papular lesions oboInOwl:hasDbXref icd11:EC21.2 semapv:UnspecifiedMatching +Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref ICD10:M87.8 semapv:UnspecifiedMatching +Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:608805 semapv:UnspecifiedMatching +Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref OMIM:617383 semapv:UnspecifiedMatching +Orphanet:86820 Familial avascular necrosis of femoral head oboInOwl:hasDbXref UMLS:C4275066 semapv:UnspecifiedMatching +Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref OMIM:601160 semapv:UnspecifiedMatching +Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome oboInOwl:hasDbXref UMLS:C4305255 semapv:UnspecifiedMatching +Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref OMIM:601160 semapv:UnspecifiedMatching +Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome oboInOwl:hasDbXref UMLS:C4305254 semapv:UnspecifiedMatching +Orphanet:86823 Lissencephaly with cerebellar hypoplasia oboInOwl:hasDbXref UMLS:C4274995 semapv:UnspecifiedMatching +Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref MESH:D015467 semapv:UnspecifiedMatching +Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref UMLS:C0023481 semapv:UnspecifiedMatching +Orphanet:86829 Chronic neutrophilic leukemia oboInOwl:hasDbXref icd11:2A20.1 semapv:UnspecifiedMatching +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref OMIM:131440 semapv:UnspecifiedMatching +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref UMLS:C4757947 semapv:UnspecifiedMatching +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref icd11:2A44 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MESH:D054429 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10023249 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:607785 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0349639 semapv:UnspecifiedMatching +Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref icd11:2A42 semapv:UnspecifiedMatching +Orphanet:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref MedDRA:10067959 semapv:UnspecifiedMatching +Orphanet:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref UMLS:C0796466 semapv:UnspecifiedMatching +Orphanet:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref icd11:2A34 semapv:UnspecifiedMatching +Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MESH:D000754 semapv:UnspecifiedMatching +Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MedDRA:10038270 semapv:UnspecifiedMatching +Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref UMLS:C0002894 semapv:UnspecifiedMatching +Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref MedDRA:10067096 semapv:UnspecifiedMatching +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref OMIM:153550 semapv:UnspecifiedMatching +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref UMLS:C1292779 semapv:UnspecifiedMatching +Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref ICD10:C94.4 semapv:UnspecifiedMatching +Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref MedDRA:10000879 semapv:UnspecifiedMatching +Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref UMLS:C0334674 semapv:UnspecifiedMatching +Orphanet:86843 Acute panmyelosis with myelofibrosis oboInOwl:hasDbXref icd11:2A60.38 semapv:UnspecifiedMatching +Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref ICD10:C92.8 semapv:UnspecifiedMatching +Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref UMLS:C1292773 semapv:UnspecifiedMatching +Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features oboInOwl:hasDbXref icd11:2A60.1 semapv:UnspecifiedMatching +Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C1292776 semapv:UnspecifiedMatching +Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching +Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref MESH:D015471 semapv:UnspecifiedMatching +Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref UMLS:C0023437 semapv:UnspecifiedMatching +Orphanet:86849 Acute basophilic leukemia oboInOwl:hasDbXref icd11:2A60.37 semapv:UnspecifiedMatching +Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref ICD10:C92.3 semapv:UnspecifiedMatching +Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref ICD10:C92.3 semapv:UnspecifiedMatching +Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref MESH:D023981 semapv:UnspecifiedMatching +Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref MedDRA:10008583 semapv:UnspecifiedMatching +Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref UMLS:C4721505 semapv:UnspecifiedMatching +Orphanet:86850 Myeloid sarcoma oboInOwl:hasDbXref icd11:2A60.39 semapv:UnspecifiedMatching +Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:86851 Acute leukemia of ambiguous lineage oboInOwl:hasDbXref UMLS:C1301357 semapv:UnspecifiedMatching +Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.3 semapv:UnspecifiedMatching +Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.3 semapv:UnspecifiedMatching +Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D054403 semapv:UnspecifiedMatching +Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref MedDRA:10073480 semapv:UnspecifiedMatching +Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C0475801 semapv:UnspecifiedMatching +Orphanet:86852 B-cell prolymphocytic leukemia oboInOwl:hasDbXref icd11:2A82.1 semapv:UnspecifiedMatching +Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref MedDRA:10062113 semapv:UnspecifiedMatching +Orphanet:86854 Splenic marginal zone lymphoma oboInOwl:hasDbXref UMLS:C0349632 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref MESH:D010954 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref MedDRA:10035484 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref UMLS:C0032131 semapv:UnspecifiedMatching +Orphanet:86855 Plasmacytoma oboInOwl:hasDbXref icd11:2A83.2 semapv:UnspecifiedMatching +Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease oboInOwl:hasDbXref UMLS:C5394673 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MESH:D006362 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MedDRA:10019350 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref UMLS:C0018852 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84.0 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84.1 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84.2 semapv:UnspecifiedMatching +Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching +Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref MedDRA:10029460 semapv:UnspecifiedMatching +Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref UMLS:C0855139 semapv:UnspecifiedMatching +Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref icd11:2A85.0 semapv:UnspecifiedMatching +Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref ICD10:C83.8 semapv:UnspecifiedMatching +Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MESH:D008230 semapv:UnspecifiedMatching +Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref MedDRA:10025325 semapv:UnspecifiedMatching +Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS:C0024307 semapv:UnspecifiedMatching +Orphanet:86869 Lymphomatoid granulomatosis oboInOwl:hasDbXref icd11:2A81.3 semapv:UnspecifiedMatching +Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref ICD10:C86.4 semapv:UnspecifiedMatching +Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref UMLS:C1301363 semapv:UnspecifiedMatching +Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref icd11:2A60.5 semapv:UnspecifiedMatching +Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICD10:C91.6 semapv:UnspecifiedMatching +Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015461 semapv:UnspecifiedMatching +Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref MedDRA:10042985 semapv:UnspecifiedMatching +Orphanet:86871 T-cell prolymphocytic leukemia oboInOwl:hasDbXref UMLS:C2363142 semapv:UnspecifiedMatching +Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching +Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref MedDRA:10065862 semapv:UnspecifiedMatching +Orphanet:86872 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref UMLS:C1955861 semapv:UnspecifiedMatching +Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10:C94.7 semapv:UnspecifiedMatching +Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref MedDRA:10028811 semapv:UnspecifiedMatching +Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS:C1292777 semapv:UnspecifiedMatching +Orphanet:86873 Aggressive NK-cell leukemia oboInOwl:hasDbXref icd11:2A90.3 semapv:UnspecifiedMatching +Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref ICD10:C91.5 semapv:UnspecifiedMatching +Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref ICD10:C91.5 semapv:UnspecifiedMatching +Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MESH:D015459 semapv:UnspecifiedMatching +Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref MedDRA:10001413 semapv:UnspecifiedMatching +Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0023493 semapv:UnspecifiedMatching +Orphanet:86875 Adult T-cell leukemia/lymphoma oboInOwl:hasDbXref icd11:2A90.5 semapv:UnspecifiedMatching +Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref ICD10:C86.0 semapv:UnspecifiedMatching +Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MESH:D054391 semapv:UnspecifiedMatching +Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref MedDRA:10065855 semapv:UnspecifiedMatching +Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref UMLS:C0392788 semapv:UnspecifiedMatching +Orphanet:86879 Extranodal nasal NK/T cell lymphoma oboInOwl:hasDbXref icd11:2A90.6 semapv:UnspecifiedMatching +Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 semapv:UnspecifiedMatching +Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MESH:D058527 semapv:UnspecifiedMatching +Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref MedDRA:10022703 semapv:UnspecifiedMatching +Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref UMLS:C0456889 semapv:UnspecifiedMatching +Orphanet:86880 Enteropathy-associated T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.7 semapv:UnspecifiedMatching +Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.1 semapv:UnspecifiedMatching +Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10066957 semapv:UnspecifiedMatching +Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref UMLS:C1333984 semapv:UnspecifiedMatching +Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.8 semapv:UnspecifiedMatching +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref MESH:C537503 semapv:UnspecifiedMatching +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref OMIM:618398 semapv:UnspecifiedMatching +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref UMLS:C0522624 semapv:UnspecifiedMatching +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref icd11:2B00 semapv:UnspecifiedMatching +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref ICD10:C84.4 semapv:UnspecifiedMatching +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MESH:D016411 semapv:UnspecifiedMatching +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref MedDRA:10034623 semapv:UnspecifiedMatching +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref UMLS:C0079774 semapv:UnspecifiedMatching +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified oboInOwl:hasDbXref icd11:2A90.C semapv:UnspecifiedMatching +Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.5 semapv:UnspecifiedMatching +Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10002449 semapv:UnspecifiedMatching +Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS:C0020981 semapv:UnspecifiedMatching +Orphanet:86886 Angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.9 semapv:UnspecifiedMatching +Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 semapv:UnspecifiedMatching +Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref ICD10:C81.0 semapv:UnspecifiedMatching +Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref MedDRA:10080201 semapv:UnspecifiedMatching +Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C1334968 semapv:UnspecifiedMatching +Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma oboInOwl:hasDbXref icd11:2B30.0 semapv:UnspecifiedMatching +Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref ICD10:C96.8 semapv:UnspecifiedMatching +Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref ICD10:C96.8 semapv:UnspecifiedMatching +Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref MESH:D054747 semapv:UnspecifiedMatching +Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref MedDRA:10076876 semapv:UnspecifiedMatching +Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref UMLS:C0334663 semapv:UnspecifiedMatching +Orphanet:86896 Histiocytic sarcoma oboInOwl:hasDbXref icd11:2B31.1 semapv:UnspecifiedMatching +Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 semapv:UnspecifiedMatching +Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref MedDRA:10078782 semapv:UnspecifiedMatching +Orphanet:86897 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS:C1260327 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref MESH:C536008 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref MedDRA:10073592 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref OMIM:615510 semapv:UnspecifiedMatching +Orphanet:869 Triple A syndrome oboInOwl:hasDbXref UMLS:C0271742 semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054739 semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MedDRA:10038804 semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching +Orphanet:86900 Interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260326 semapv:UnspecifiedMatching +Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054740 semapv:UnspecifiedMatching +Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref MedDRA:10075332 semapv:UnspecifiedMatching +Orphanet:86902 Follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS:C1260325 semapv:UnspecifiedMatching +Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref UMLS:C1301364 semapv:UnspecifiedMatching +Orphanet:86903 Dendritic cell sarcoma not otherwise specified oboInOwl:hasDbXref icd11:XH8Q19 semapv:UnspecifiedMatching +Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:86904 Methotrexate-associated lymphoproliferative disorders oboInOwl:hasDbXref UMLS:C1334749 semapv:UnspecifiedMatching +Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref ICD10:G40.5 semapv:UnspecifiedMatching +Orphanet:86906 Hypothalamic hamartomas with gelastic seizures oboInOwl:hasDbXref UMLS:C4707883 semapv:UnspecifiedMatching +Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref MedDRA:10085010 semapv:UnspecifiedMatching +Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref UMLS:C0549118 semapv:UnspecifiedMatching +Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome oboInOwl:hasDbXref icd11:8A62.Y semapv:UnspecifiedMatching +Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching +Orphanet:86909 Myoclonic epilepsy of infancy oboInOwl:hasDbXref UMLS:C0751120 semapv:UnspecifiedMatching +Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref UMLS:C0393703 semapv:UnspecifiedMatching +Orphanet:86911 Epilepsy with myoclonic absences oboInOwl:hasDbXref icd11:8A61.23 semapv:UnspecifiedMatching +Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies oboInOwl:hasDbXref UMLS:C4755298 semapv:UnspecifiedMatching +Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching +Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching +Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref OMIM:152900 semapv:UnspecifiedMatching +Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome oboInOwl:hasDbXref UMLS:C4302917 semapv:UnspecifiedMatching +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref MESH:C567398 semapv:UnspecifiedMatching +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref OMIM:601927 semapv:UnspecifiedMatching +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref UMLS:C2677167 semapv:UnspecifiedMatching +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome oboInOwl:hasDbXref UMLS:C4303588 semapv:UnspecifiedMatching +Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref OMIM:148520 semapv:UnspecifiedMatching +Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome oboInOwl:hasDbXref UMLS:C4510514 semapv:UnspecifiedMatching +Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C535374 semapv:UnspecifiedMatching +Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 semapv:UnspecifiedMatching +Orphanet:86920 Dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS:C0406778 semapv:UnspecifiedMatching +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref OMIM:244850 semapv:UnspecifiedMatching +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref UMLS:C4273986 semapv:UnspecifiedMatching +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type oboInOwl:hasDbXref icd11:EC20.3 semapv:UnspecifiedMatching +Orphanet:87 Apert syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:87 Apert syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:87 Apert syndrome oboInOwl:hasDbXref MedDRA:10002943 semapv:UnspecifiedMatching +Orphanet:87 Apert syndrome oboInOwl:hasDbXref OMIM:101200 semapv:UnspecifiedMatching +Orphanet:87 Apert syndrome oboInOwl:hasDbXref UMLS:C0001193 semapv:UnspecifiedMatching +Orphanet:87 Apert syndrome oboInOwl:hasDbXref icd11:LD24.G2 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.0 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.0 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.1 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.1 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.2 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.2 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref ICD10:Q90.9 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref MESH:D004314 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref MedDRA:10044688 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching +Orphanet:870 Down syndrome oboInOwl:hasDbXref UMLS:C0013080 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref MESH:C566873 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:113900 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:115080 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:140400 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:604559 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching +Orphanet:871 Familial progressive cardiac conduction defect oboInOwl:hasDbXref UMLS:C1879286 semapv:UnspecifiedMatching +Orphanet:87277 Rare intellectual disability oboInOwl:hasDbXref UMLS:C5681429 semapv:UnspecifiedMatching +Orphanet:873 Desmoid tumor oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:873 Desmoid tumor oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:873 Desmoid tumor oboInOwl:hasDbXref OMIM:135290 semapv:UnspecifiedMatching +Orphanet:873 Desmoid tumor oboInOwl:hasDbXref UMLS:C0079218 semapv:UnspecifiedMatching +Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching +Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching +Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching +Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching +Orphanet:874 Primary adult heart tumor oboInOwl:hasDbXref UMLS:C4275152 semapv:UnspecifiedMatching +Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching +Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:C38.0 semapv:UnspecifiedMatching +Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching +Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref ICD10:D15.1 semapv:UnspecifiedMatching +Orphanet:875 Primary pediatric heart tumor oboInOwl:hasDbXref UMLS:C4274356 semapv:UnspecifiedMatching +Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref OMIM:248300 semapv:UnspecifiedMatching +Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref UMLS:C0025221 semapv:UnspecifiedMatching +Orphanet:87503 Mal de Meleda oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref MESH:D018240 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref MedDRA:10048251 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching +Orphanet:876 Yolk sac tumor oboInOwl:hasDbXref UMLS:C0014145 semapv:UnspecifiedMatching +Orphanet:877 Neuroendocrine neoplasm oboInOwl:hasDbXref MESH:D018358 semapv:UnspecifiedMatching +Orphanet:877 Neuroendocrine neoplasm oboInOwl:hasDbXref MedDRA:10052399 semapv:UnspecifiedMatching +Orphanet:877 Neuroendocrine neoplasm oboInOwl:hasDbXref UMLS:C0206754 semapv:UnspecifiedMatching +Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256150 semapv:UnspecifiedMatching +Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching +Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref UMLS:C3888317 semapv:UnspecifiedMatching +Orphanet:87876 Sialidosis type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref UMLS:C5680182 semapv:UnspecifiedMatching +Orphanet:87884 Non-syndromic genetic deafness oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching +Orphanet:879 Tungiasis oboInOwl:hasDbXref ICD10:B88.1 semapv:UnspecifiedMatching +Orphanet:879 Tungiasis oboInOwl:hasDbXref MESH:D058285 semapv:UnspecifiedMatching +Orphanet:879 Tungiasis oboInOwl:hasDbXref UMLS:C0277356 semapv:UnspecifiedMatching +Orphanet:879 Tungiasis oboInOwl:hasDbXref icd11:1G05 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MESH:C538494 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MedDRA:10054580 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614742 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:614743 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref UMLS:C0348890 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.0 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.0 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.8 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref MESH:D014424 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref MedDRA:10045181 semapv:UnspecifiedMatching +Orphanet:881 Turner syndrome oboInOwl:hasDbXref UMLS:C0041408 semapv:UnspecifiedMatching +Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching +Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref MedDRA:10069462 semapv:UnspecifiedMatching +Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref OMIM:276700 semapv:UnspecifiedMatching +Orphanet:882 Tyrosinemia type 1 oboInOwl:hasDbXref UMLS:C0268490 semapv:UnspecifiedMatching +Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching +Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref MedDRA:10043276 semapv:UnspecifiedMatching +Orphanet:883 Extragonadal teratoma oboInOwl:hasDbXref UMLS:C4708601 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref MESH:C538105 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref MedDRA:10080297 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref OMIM:601803 semapv:UnspecifiedMatching +Orphanet:884 Tetrasomy 12p oboInOwl:hasDbXref UMLS:C0265449 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref MedDRA:10063396 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276901 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:276904 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:601067 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:602083 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:602097 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:605472 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching +Orphanet:886 Usher syndrome oboInOwl:hasDbXref UMLS:C0271097 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:249500 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:607417 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:608443 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611090 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611091 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611092 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611093 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611095 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611096 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611097 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:611107 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:613192 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614020 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614202 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614208 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614249 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614329 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614333 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614340 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614341 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614342 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614343 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614344 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614345 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614346 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614347 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614499 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615802 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615817 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615942 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615979 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616116 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616193 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616459 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616460 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616739 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616887 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617028 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617125 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617188 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617709 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617816 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618109 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618221 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618402 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:618687 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:619931 semapv:UnspecifiedMatching +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5680181 semapv:UnspecifiedMatching +Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref OMIM:613752 semapv:UnspecifiedMatching +Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref UMLS:C3151058 semapv:UnspecifiedMatching +Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref OMIM:608033 semapv:UnspecifiedMatching +Orphanet:88619 Familial acute necrotizing encephalopathy oboInOwl:hasDbXref UMLS:C4509836 semapv:UnspecifiedMatching +Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref MESH:C535983 semapv:UnspecifiedMatching +Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref OMIM:107200 semapv:UnspecifiedMatching +Orphanet:88620 Isolated congenital anosmia oboInOwl:hasDbXref UMLS:C0393778 semapv:UnspecifiedMatching +Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref MESH:C536271 semapv:UnspecifiedMatching +Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref OMIM:608649 semapv:UnspecifiedMatching +Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref UMLS:C1837610 semapv:UnspecifiedMatching +Orphanet:88621 Ichthyosis-prematurity syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C536343 semapv:UnspecifiedMatching +Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:609033 semapv:UnspecifiedMatching +Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C1836916 semapv:UnspecifiedMatching +Orphanet:88629 Tritanopia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:88629 Tritanopia oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:88629 Tritanopia oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatching +Orphanet:88629 Tritanopia oboInOwl:hasDbXref UMLS:C0155017 semapv:UnspecifiedMatching +Orphanet:88629 Tritanopia oboInOwl:hasDbXref icd11:9D44 semapv:UnspecifiedMatching +Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref OMIM:300244 semapv:UnspecifiedMatching +Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome oboInOwl:hasDbXref UMLS:C4509953 semapv:UnspecifiedMatching +Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref MESH:C537775 semapv:UnspecifiedMatching +Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:107250 semapv:UnspecifiedMatching +Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:617315 semapv:UnspecifiedMatching +Orphanet:88632 Anterior segment developmental anomaly oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching +Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref ICD10:H16.2 semapv:UnspecifiedMatching +Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref MedDRA:10078410 semapv:UnspecifiedMatching +Orphanet:88633 Superior limbic keratoconjunctivitis oboInOwl:hasDbXref UMLS:C0339229 semapv:UnspecifiedMatching +Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref OMIM:616231 semapv:UnspecifiedMatching +Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref UMLS:C4510368 semapv:UnspecifiedMatching +Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref icd11:8C7Y semapv:UnspecifiedMatching +Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref MESH:C567313 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref OMIM:614381 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref OMIM:616494 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref UMLS:C2676243 semapv:UnspecifiedMatching +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref MESH:C562803 semapv:UnspecifiedMatching +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref OMIM:250620 semapv:UnspecifiedMatching +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref UMLS:C0342738 semapv:UnspecifiedMatching +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref OMIM:243000 semapv:UnspecifiedMatching +Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy oboInOwl:hasDbXref UMLS:C5680180 semapv:UnspecifiedMatching +Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E03.8 semapv:UnspecifiedMatching +Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome oboInOwl:hasDbXref ICD10:E03.8 semapv:UnspecifiedMatching +Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4302879 semapv:UnspecifiedMatching +Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref MESH:C579934 semapv:UnspecifiedMatching +Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref OMIM:610743 semapv:UnspecifiedMatching +Orphanet:88644 Autosomal recessive ataxia, Beauce type oboInOwl:hasDbXref UMLS:C3683483 semapv:UnspecifiedMatching +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref OMIM:161900 semapv:UnspecifiedMatching +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref UMLS:C3839782 semapv:UnspecifiedMatching +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref UMLS:C4707886 semapv:UnspecifiedMatching +Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref MESH:D000567 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:104530 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:130900 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204650 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:204700 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301200 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:612529 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:613211 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:614832 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref OMIM:620104 semapv:UnspecifiedMatching +Orphanet:88661 Amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0002452 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref ICD10:C22.0 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MESH:D006528 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref MedDRA:10049010 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C2239176 semapv:UnspecifiedMatching +Orphanet:88673 Hepatocellular carcinoma oboInOwl:hasDbXref icd11:2C12.02 semapv:UnspecifiedMatching +Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching +Orphanet:887 VACTERL/VATER association oboInOwl:hasDbXref UMLS:C4225671 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref ICD10:Q38.0 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref MESH:C536528 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:119300 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:604547 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref OMIM:606713 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref UMLS:C0175697 semapv:UnspecifiedMatching +Orphanet:888 Van der Woude syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref ICD10:M31.0 semapv:UnspecifiedMatching +Orphanet:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref ICD10:M31.0 semapv:UnspecifiedMatching +Orphanet:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref UMLS:C0151436 semapv:UnspecifiedMatching +Orphanet:889 Cutaneous small vessel vasculitis oboInOwl:hasDbXref icd11:EF40.1 semapv:UnspecifiedMatching +Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching +Orphanet:88917 X-linked Alport syndrome oboInOwl:hasDbXref UMLS:C1567742 semapv:UnspecifiedMatching +Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref MESH:C536586 semapv:UnspecifiedMatching +Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching +Orphanet:88918 Autosomal dominant Alport syndrome oboInOwl:hasDbXref UMLS:C1567743 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref MESH:C536587 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref UMLS:C1567744 semapv:UnspecifiedMatching +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref OMIM:600273 semapv:UnspecifiedMatching +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref UMLS:C1838327 semapv:UnspecifiedMatching +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref MESH:C564160 semapv:UnspecifiedMatching +Orphanet:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref OMIM:145260 semapv:UnspecifiedMatching +Orphanet:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref UMLS:C1840389 semapv:UnspecifiedMatching +Orphanet:88938 Pseudohypoaldosteronism type 2A oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref MESH:C564161 semapv:UnspecifiedMatching +Orphanet:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref OMIM:614491 semapv:UnspecifiedMatching +Orphanet:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref UMLS:C1840390 semapv:UnspecifiedMatching +Orphanet:88939 Pseudohypoaldosteronism type 2B oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching +Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref MESH:C564162 semapv:UnspecifiedMatching +Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref OMIM:614492 semapv:UnspecifiedMatching +Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref UMLS:C1840391 semapv:UnspecifiedMatching +Orphanet:88940 Pseudohypoaldosteronism type 2C oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C536137 semapv:UnspecifiedMatching +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C548033 semapv:UnspecifiedMatching +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching +Orphanet:88991 Rare congenital non-syndromic heart malformation oboInOwl:hasDbXref UMLS:C5681450 semapv:UnspecifiedMatching +Orphanet:88993 Esophageal malformation oboInOwl:hasDbXref UMLS:C5681451 semapv:UnspecifiedMatching +Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching +Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10:K76.5 semapv:UnspecifiedMatching +Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MESH:D006504 semapv:UnspecifiedMatching +Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref MedDRA:10047216 semapv:UnspecifiedMatching +Orphanet:890 Hepatic veno-occlusive disease oboInOwl:hasDbXref UMLS:C0019156 semapv:UnspecifiedMatching +Orphanet:89043 Rare dementia oboInOwl:hasDbXref UMLS:C5681447 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref MESH:D000080345 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:305390 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:601813 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:605750 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:613310 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:616468 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref OMIM:617572 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C0339539 semapv:UnspecifiedMatching +Orphanet:891 Familial exudative vitreoretinopathy oboInOwl:hasDbXref icd11:LA13.3 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref MedDRA:10047716 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 semapv:UnspecifiedMatching +Orphanet:892 Von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C0019562 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref MESH:D017624 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref OMIM:612469 semapv:UnspecifiedMatching +Orphanet:893 WAGR syndrome oboInOwl:hasDbXref UMLS:C0206115 semapv:UnspecifiedMatching +Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching +Orphanet:894 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref MESH:C536463 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:619947 semapv:UnspecifiedMatching +Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref UMLS:C2700265 semapv:UnspecifiedMatching +Orphanet:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:896 Waardenburg syndrome type 3 oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref MESH:C536467 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:277580 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613265 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref OMIM:613266 semapv:UnspecifiedMatching +Orphanet:897 Waardenburg-Shah syndrome oboInOwl:hasDbXref UMLS:C1848519 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref MESH:C536075 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref MedDRA:10063383 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref OMIM:143200 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref UMLS:C1840452 semapv:UnspecifiedMatching +Orphanet:898 Wagner disease oboInOwl:hasDbXref icd11:9B80 semapv:UnspecifiedMatching +Orphanet:89826 Rare skin disease oboInOwl:hasDbXref UMLS:C5681445 semapv:UnspecifiedMatching +Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:619599 semapv:UnspecifiedMatching +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C5680184 semapv:UnspecifiedMatching +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching +Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form oboInOwl:hasDbXref UMLS:C4511044 semapv:UnspecifiedMatching +Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref MESH:C563192 semapv:UnspecifiedMatching +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref OMIM:604129 semapv:UnspecifiedMatching +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref UMLS:C1275114 semapv:UnspecifiedMatching +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa oboInOwl:hasDbXref icd11:EC32 semapv:UnspecifiedMatching +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref MESH:C537848 semapv:UnspecifiedMatching +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref OMIM:257320 semapv:UnspecifiedMatching +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type oboInOwl:hasDbXref UMLS:C0796089 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref MESH:D058494 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:253280 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613150 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613153 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:613154 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:614643 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:614830 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615041 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615181 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615249 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:615287 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref OMIM:616538 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref UMLS:C0265221 semapv:UnspecifiedMatching +Orphanet:899 Walker-Warburg syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref OMIM:307800 semapv:UnspecifiedMatching +Orphanet:89936 X-linked hypophosphatemia oboInOwl:hasDbXref UMLS:C3540852 semapv:UnspecifiedMatching +Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref MESH:C562791 semapv:UnspecifiedMatching +Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:193100 semapv:UnspecifiedMatching +Orphanet:89937 Autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0342642 semapv:UnspecifiedMatching +Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching +Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching +Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref UMLS:C3838860 semapv:UnspecifiedMatching +Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching +Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:9 Tetrasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching +Orphanet:9 Tetrasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching +Orphanet:9 Tetrasomy X oboInOwl:hasDbXref MESH:C536502 semapv:UnspecifiedMatching +Orphanet:9 Tetrasomy X oboInOwl:hasDbXref UMLS:C0265496 semapv:UnspecifiedMatching +Orphanet:9 Tetrasomy X oboInOwl:hasDbXref icd11:LD50.Y semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref MedDRA:10062695 semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref OMIM:207800 semapv:UnspecifiedMatching +Orphanet:90 Argininemia oboInOwl:hasDbXref UMLS:C0268548 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M31.3 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10:M31.3 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref MedDRA:10072579 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C3495801 semapv:UnspecifiedMatching +Orphanet:900 Granulomatosis with polyangiitis oboInOwl:hasDbXref icd11:4A44.A1 semapv:UnspecifiedMatching +Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref ICD10:L95.1 semapv:UnspecifiedMatching +Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref ICD10:L95.1 semapv:UnspecifiedMatching +Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching +Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref MedDRA:10056968 semapv:UnspecifiedMatching +Orphanet:90000 Erythema elevatum diutinum oboInOwl:hasDbXref UMLS:C0263398 semapv:UnspecifiedMatching +Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref MESH:C564092 semapv:UnspecifiedMatching +Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref OMIM:300843 semapv:UnspecifiedMatching +Orphanet:90001 X-linked cone dysfunction syndrome with myopia oboInOwl:hasDbXref UMLS:C3159311 semapv:UnspecifiedMatching +Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref MESH:D000074079 semapv:UnspecifiedMatching +Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref MedDRA:10071575 semapv:UnspecifiedMatching +Orphanet:90002 Undifferentiated connective tissue syndrome oboInOwl:hasDbXref UMLS:C0409999 semapv:UnspecifiedMatching +Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref ICD10:K75.8 semapv:UnspecifiedMatching +Orphanet:90003 Inflammatory pseudotumor of the liver oboInOwl:hasDbXref UMLS:C1333967 semapv:UnspecifiedMatching +Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching +Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref UMLS:C0543859 semapv:UnspecifiedMatching +Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching +Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching +Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref UMLS:C4706614 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref OMIM:610798 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref UMLS:C4305256 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref MESH:C565195 semapv:UnspecifiedMatching +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref OMIM:610706 semapv:UnspecifiedMatching +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref UMLS:C1853144 semapv:UnspecifiedMatching +Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref ICD10:Q70 semapv:UnspecifiedMatching +Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref ICD10:Q70 semapv:UnspecifiedMatching +Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MESH:D013576 semapv:UnspecifiedMatching +Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref MedDRA:10042778 semapv:UnspecifiedMatching +Orphanet:90025 Non-syndromic syndactyly oboInOwl:hasDbXref UMLS:C5681365 semapv:UnspecifiedMatching +Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching +Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref ICD10:I73.8 semapv:UnspecifiedMatching +Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref MESH:D004916 semapv:UnspecifiedMatching +Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching +Orphanet:90026 Primary erythromelalgia oboInOwl:hasDbXref UMLS:C0014805 semapv:UnspecifiedMatching +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref OMIM:618660 semapv:UnspecifiedMatching +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref UMLS:C5231513 semapv:UnspecifiedMatching +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref OMIM:235700 semapv:UnspecifiedMatching +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency oboInOwl:hasDbXref UMLS:C5681378 semapv:UnspecifiedMatching +Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref MedDRA:10047822 semapv:UnspecifiedMatching +Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref UMLS:C0272118 semapv:UnspecifiedMatching +Orphanet:90033 Autoimmune hemolytic anemia, warm type oboInOwl:hasDbXref icd11:3A20.0 semapv:UnspecifiedMatching +Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref ICD10:D59.6 semapv:UnspecifiedMatching +Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref ICD10:D59.6 semapv:UnspecifiedMatching +Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref MESH:C538618 semapv:UnspecifiedMatching +Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref UMLS:C0086774 semapv:UnspecifiedMatching +Orphanet:90035 Paroxysmal cold hemoglobinuria oboInOwl:hasDbXref icd11:3A20.3 semapv:UnspecifiedMatching +Orphanet:90036 Mixed-type autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:90036 Mixed-type autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.1 semapv:UnspecifiedMatching +Orphanet:90036 Mixed-type autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C4305257 semapv:UnspecifiedMatching +Orphanet:90036 Mixed-type autoimmune hemolytic anemia oboInOwl:hasDbXref icd11:3A20.2 semapv:UnspecifiedMatching +Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.0 semapv:UnspecifiedMatching +Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref ICD10:D59.0 semapv:UnspecifiedMatching +Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref MedDRA:10055213 semapv:UnspecifiedMatching +Orphanet:90037 Drug-induced autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0391817 semapv:UnspecifiedMatching +Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching +Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref MedDRA:10055019 semapv:UnspecifiedMatching +Orphanet:90039 Hemoglobin D disease oboInOwl:hasDbXref UMLS:C0272080 semapv:UnspecifiedMatching +Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref MedDRA:10053885 semapv:UnspecifiedMatching +Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref UMLS:C0541719 semapv:UnspecifiedMatching +Orphanet:90041 Gaisböck syndrome oboInOwl:hasDbXref icd11:3B61.1 semapv:UnspecifiedMatching +Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref ICD10:D75.0 semapv:UnspecifiedMatching +Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref MESH:C536842 semapv:UnspecifiedMatching +Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref OMIM:133100 semapv:UnspecifiedMatching +Orphanet:90042 Primary familial polycythemia oboInOwl:hasDbXref UMLS:C4551637 semapv:UnspecifiedMatching +Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref OMIM:609153 semapv:UnspecifiedMatching +Orphanet:90044 Familial pseudohyperkalemia oboInOwl:hasDbXref UMLS:C4273970 semapv:UnspecifiedMatching +Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching +Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching +Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref MESH:C562799 semapv:UnspecifiedMatching +Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 semapv:UnspecifiedMatching +Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref UMLS:C0342705 semapv:UnspecifiedMatching +Orphanet:90045 Hereditary folate malabsorption oboInOwl:hasDbXref icd11:5C63.1 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref ICD10:H35.1 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref ICD10:H35.1 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref MedDRA:10038933 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching +Orphanet:90050 Retinopathy of prematurity oboInOwl:hasDbXref UMLS:C0035344 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.0 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.1 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.2 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.3 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.4 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.5 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.5 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.8 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.8 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.9 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref ICD10:P36.9 semapv:UnspecifiedMatching +Orphanet:90051 Sepsis in premature infants oboInOwl:hasDbXref UMLS:C5681350 semapv:UnspecifiedMatching +Orphanet:90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients oboInOwl:hasDbXref ICD10:B18.2 semapv:UnspecifiedMatching +Orphanet:90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients oboInOwl:hasDbXref ICD10:B18.2 semapv:UnspecifiedMatching +Orphanet:90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients oboInOwl:hasDbXref UMLS:C5681349 semapv:UnspecifiedMatching +Orphanet:90053 Complications after hematopoietic stem cell transplantation oboInOwl:hasDbXref ICD10:Z94.8 semapv:UnspecifiedMatching +Orphanet:90053 Complications after hematopoietic stem cell transplantation oboInOwl:hasDbXref ICD10:Z94.8 semapv:UnspecifiedMatching +Orphanet:90053 Complications after hematopoietic stem cell transplantation oboInOwl:hasDbXref UMLS:C5680176 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.0 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.0 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.1 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.1 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.2 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.2 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.3 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.3 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.4 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.4 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.5 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.5 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.6 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.6 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.7 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.7 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.8 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref ICD10:S06.9 semapv:UnspecifiedMatching +Orphanet:90056 Moderate and severe traumatic brain injury oboInOwl:hasDbXref UMLS:C5681362 semapv:UnspecifiedMatching +Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref ICD10:T09.3 semapv:UnspecifiedMatching +Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref ICD10:T09.3 semapv:UnspecifiedMatching +Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref MESH:D013119 semapv:UnspecifiedMatching +Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref MedDRA:10041552 semapv:UnspecifiedMatching +Orphanet:90058 Spinal cord injury oboInOwl:hasDbXref UMLS:C0037929 semapv:UnspecifiedMatching +Orphanet:90059 Sudden sensorineural hearing loss oboInOwl:hasDbXref ICD10:H83.3 semapv:UnspecifiedMatching +Orphanet:90059 Sudden sensorineural hearing loss oboInOwl:hasDbXref UMLS:C5681358 semapv:UnspecifiedMatching +Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref ICD10:R04.8 semapv:UnspecifiedMatching +Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref ICD10:R04.8 semapv:UnspecifiedMatching +Orphanet:90060 Diffuse alveolar hemorrhage oboInOwl:hasDbXref UMLS:C4476767 semapv:UnspecifiedMatching +Orphanet:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref ICD10:H30.1 semapv:UnspecifiedMatching +Orphanet:90061 Non-infectious posterior uveitis oboInOwl:hasDbXref UMLS:C5396634 semapv:UnspecifiedMatching +Orphanet:90062 Acute liver failure oboInOwl:hasDbXref ICD10:K72.0 semapv:UnspecifiedMatching +Orphanet:90062 Acute liver failure oboInOwl:hasDbXref MESH:D017114 semapv:UnspecifiedMatching +Orphanet:90062 Acute liver failure oboInOwl:hasDbXref MedDRA:10000804 semapv:UnspecifiedMatching +Orphanet:90062 Acute liver failure oboInOwl:hasDbXref UMLS:C0162557 semapv:UnspecifiedMatching +Orphanet:90064 Acute peripheral arterial occlusion oboInOwl:hasDbXref ICD10:I74.4 semapv:UnspecifiedMatching +Orphanet:90064 Acute peripheral arterial occlusion oboInOwl:hasDbXref ICD10:I74.4 semapv:UnspecifiedMatching +Orphanet:90064 Acute peripheral arterial occlusion oboInOwl:hasDbXref UMLS:C5681343 semapv:UnspecifiedMatching +Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage oboInOwl:hasDbXref ICD10:I60.9 semapv:UnspecifiedMatching +Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage oboInOwl:hasDbXref ICD10:I60.9 semapv:UnspecifiedMatching +Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage oboInOwl:hasDbXref UMLS:C0338572 semapv:UnspecifiedMatching +Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage oboInOwl:hasDbXref icd11:8B01.0 semapv:UnspecifiedMatching +Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref ICD10:J15.1 semapv:UnspecifiedMatching +Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref ICD10:J15.1 semapv:UnspecifiedMatching +Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref UMLS:C0920182 semapv:UnspecifiedMatching +Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection oboInOwl:hasDbXref icd11:CA40.05 semapv:UnspecifiedMatching +Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref ICD10:T40.5 semapv:UnspecifiedMatching +Orphanet:90068 Cocaine intoxication oboInOwl:hasDbXref UMLS:C0009176 semapv:UnspecifiedMatching +Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref ICD10:T60.3 semapv:UnspecifiedMatching +Orphanet:90069 Systemic monochloroacetate poisoning oboInOwl:hasDbXref UMLS:C4707283 semapv:UnspecifiedMatching +Orphanet:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref ICD10:B18.0 semapv:UnspecifiedMatching +Orphanet:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref ICD10:B18.0 semapv:UnspecifiedMatching +Orphanet:90073 Hepatitis B reinfection following liver transplantation oboInOwl:hasDbXref UMLS:C5681345 semapv:UnspecifiedMatching +Orphanet:90076 Partial deep dermal and full thickness burns oboInOwl:hasDbXref ICD10:T30.3 semapv:UnspecifiedMatching +Orphanet:90077 Other acquired skin disease oboInOwl:hasDbXref UMLS:C5681396 semapv:UnspecifiedMatching +Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref ICD10:A49.1 semapv:UnspecifiedMatching +Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref MedDRA:10053621 semapv:UnspecifiedMatching +Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci oboInOwl:hasDbXref UMLS:C5680177 semapv:UnspecifiedMatching +Orphanet:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasDbXref ICD10:H59.8 semapv:UnspecifiedMatching +Orphanet:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasDbXref UMLS:C5681395 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref ICD10:B22.2 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref MESH:D019247 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref UMLS:C0343755 semapv:UnspecifiedMatching +Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching +Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching +Orphanet:901 Wells syndrome oboInOwl:hasDbXref MESH:C536693 semapv:UnspecifiedMatching +Orphanet:901 Wells syndrome oboInOwl:hasDbXref UMLS:C0343101 semapv:UnspecifiedMatching +Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref OMIM:214370 semapv:UnspecifiedMatching +Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4706301 semapv:UnspecifiedMatching +Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C5680178 semapv:UnspecifiedMatching +Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref MESH:C535717 semapv:UnspecifiedMatching +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type oboInOwl:hasDbXref UMLS:C1858338 semapv:UnspecifiedMatching +Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency oboInOwl:hasDbXref UMLS:C4707897 semapv:UnspecifiedMatching +Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref UMLS:C4749729 semapv:UnspecifiedMatching +Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref MESH:C562851 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:601152 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref OMIM:616505 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref UMLS:C0393807 semapv:UnspecifiedMatching +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref MESH:C535705 semapv:UnspecifiedMatching +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy oboInOwl:hasDbXref UMLS:C5399785 semapv:UnspecifiedMatching +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref MESH:C535706 semapv:UnspecifiedMatching +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy oboInOwl:hasDbXref UMLS:C1837756 semapv:UnspecifiedMatching +Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:90156 Centrifugal lipodystrophy oboInOwl:hasDbXref UMLS:C0406605 semapv:UnspecifiedMatching +Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:90157 Drug-induced localized lipodystrophy oboInOwl:hasDbXref UMLS:C1274983 semapv:UnspecifiedMatching +Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:90158 Idiopathic localized lipodystrophy oboInOwl:hasDbXref UMLS:C0473566 semapv:UnspecifiedMatching +Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:90159 Panniculitis-induced localized lipodystrophy oboInOwl:hasDbXref UMLS:C5190785 semapv:UnspecifiedMatching +Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref UMLS:C1260961 semapv:UnspecifiedMatching +Orphanet:90185 Non-hereditary late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:90186 Meige disease oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching +Orphanet:90186 Meige disease oboInOwl:hasDbXref UMLS:C1704424 semapv:UnspecifiedMatching +Orphanet:90186 Meige disease oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref MedDRA:10049429 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref OMIM:277700 semapv:UnspecifiedMatching +Orphanet:902 Werner syndrome oboInOwl:hasDbXref UMLS:C0043119 semapv:UnspecifiedMatching +Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref MESH:C535924 semapv:UnspecifiedMatching +Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref MedDRA:10025141 semapv:UnspecifiedMatching +Orphanet:90280 Chilblain lupus oboInOwl:hasDbXref UMLS:C4551515 semapv:UnspecifiedMatching +Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref ICD10:L93.0 semapv:UnspecifiedMatching +Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MESH:D008179 semapv:UnspecifiedMatching +Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref MedDRA:10013072 semapv:UnspecifiedMatching +Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref UMLS:C5574816 semapv:UnspecifiedMatching +Orphanet:90281 Discoid lupus erythematosus oboInOwl:hasDbXref icd11:EB51.0 semapv:UnspecifiedMatching +Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90282 Hypertrophic or verrucous lupus erythematosus oboInOwl:hasDbXref UMLS:C1274838 semapv:UnspecifiedMatching +Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90283 Lupus erythematosus tumidus oboInOwl:hasDbXref UMLS:C0406636 semapv:UnspecifiedMatching +Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref ICD10:L93.2 semapv:UnspecifiedMatching +Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref MESH:D015435 semapv:UnspecifiedMatching +Orphanet:90285 Lupus erythematosus panniculitis oboInOwl:hasDbXref UMLS:C0030327 semapv:UnspecifiedMatching +Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref ICD10:L94.0 semapv:UnspecifiedMatching +Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching +Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref MedDRA:10039712 semapv:UnspecifiedMatching +Orphanet:90289 Localized scleroderma oboInOwl:hasDbXref UMLS:C0036420 semapv:UnspecifiedMatching +Orphanet:90290 CREST syndrome oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching +Orphanet:90290 CREST syndrome oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching +Orphanet:90290 CREST syndrome oboInOwl:hasDbXref MESH:D017675 semapv:UnspecifiedMatching +Orphanet:90290 CREST syndrome oboInOwl:hasDbXref MedDRA:10011380 semapv:UnspecifiedMatching +Orphanet:90290 CREST syndrome oboInOwl:hasDbXref UMLS:C0206138 semapv:UnspecifiedMatching +Orphanet:90290 CREST syndrome oboInOwl:hasDbXref icd11:4A42.2 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.2 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.2 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.8 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.9 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref MESH:D012595 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref MedDRA:10042953 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref UMLS:C0036421 semapv:UnspecifiedMatching +Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref icd11:4A42 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref ICD10:D68.0 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref MESH:D014842 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref MedDRA:10047715 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:314560 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref UMLS:C0042974 semapv:UnspecifiedMatching +Orphanet:903 Von Willebrand disease oboInOwl:hasDbXref icd11:3B12 semapv:UnspecifiedMatching +Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching +Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref OMIM:200170 semapv:UnspecifiedMatching +Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome oboInOwl:hasDbXref UMLS:C4305258 semapv:UnspecifiedMatching +Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching +Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref UMLS:C5574870 semapv:UnspecifiedMatching +Orphanet:90307 Parkes Weber syndrome oboInOwl:hasDbXref icd11:LD26.60 semapv:UnspecifiedMatching +Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref MedDRA:10051452 semapv:UnspecifiedMatching +Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching +Orphanet:90308 Klippel-Trénaunay syndrome oboInOwl:hasDbXref icd11:LD26.60 semapv:UnspecifiedMatching +Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching +Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching +Orphanet:90321 Cockayne syndrome type 1 oboInOwl:hasDbXref UMLS:C0751039 semapv:UnspecifiedMatching +Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching +Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching +Orphanet:90322 Cockayne syndrome type 2 oboInOwl:hasDbXref UMLS:C0751038 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216411 semapv:UnspecifiedMatching +Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref UMLS:C0751037 semapv:UnspecifiedMatching +Orphanet:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:90340 Blau syndrome oboInOwl:hasDbXref MedDRA:10071755 semapv:UnspecifiedMatching +Orphanet:90340 Blau syndrome oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching +Orphanet:90340 Blau syndrome oboInOwl:hasDbXref UMLS:C5201146 semapv:UnspecifiedMatching +Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching +Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref UMLS:C1836122 semapv:UnspecifiedMatching +Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching +Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching +Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref MESH:C536766 semapv:UnspecifiedMatching +Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref OMIM:278750 semapv:UnspecifiedMatching +Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref UMLS:C1848410 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref MESH:C562627 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:123700 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:614434 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref OMIM:616603 semapv:UnspecifiedMatching +Orphanet:90348 Autosomal dominant cutis laxa oboInOwl:hasDbXref UMLS:C0268350 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref MESH:C562628 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:219100 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref OMIM:614437 semapv:UnspecifiedMatching +Orphanet:90349 Autosomal recessive cutis laxa type 1 oboInOwl:hasDbXref UMLS:C0268351 semapv:UnspecifiedMatching +Orphanet:90350 Autosomal recessive cutis laxa type 2 oboInOwl:hasDbXref UMLS:C0432337 semapv:UnspecifiedMatching +Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching +Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref OMIM:614170 semapv:UnspecifiedMatching +Orphanet:90354 Brittle cornea syndrome oboInOwl:hasDbXref UMLS:C0268344 semapv:UnspecifiedMatching +Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching +Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching +Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref MESH:C536567 semapv:UnspecifiedMatching +Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref OMIM:152800 semapv:UnspecifiedMatching +Orphanet:90362 Primary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C2931241 semapv:UnspecifiedMatching +Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching +Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref ICD10:I89.0 semapv:UnspecifiedMatching +Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref UMLS:C4273969 semapv:UnspecifiedMatching +Orphanet:90363 Secondary intestinal lymphangiectasia oboInOwl:hasDbXref icd11:BD92.0 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref ICD10:L65.8 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref MESH:C564143 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:146520 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref OMIM:613981 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref UMLS:C1840299 semapv:UnspecifiedMatching +Orphanet:90368 Hypotrichosis simplex of the scalp oboInOwl:hasDbXref icd11:EC21.2 semapv:UnspecifiedMatching +Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref ICD10:Q82.2 semapv:UnspecifiedMatching +Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref MESH:C000715747 semapv:UnspecifiedMatching +Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref MedDRA:10043192 semapv:UnspecifiedMatching +Orphanet:90389 Telangiectasia macularis eruptiva perstans oboInOwl:hasDbXref UMLS:C0263402 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref MESH:C536378 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:107000 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:614149 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref UMLS:C1862840 semapv:UnspecifiedMatching +Orphanet:90390 Anonychia-onychodystrophy syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:90393 Nodular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90393 Nodular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90393 Nodular lichen myxedematosus oboInOwl:hasDbXref UMLS:C4273968 semapv:UnspecifiedMatching +Orphanet:90394 Discrete papular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90394 Discrete papular lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90394 Discrete papular lichen myxedematosus oboInOwl:hasDbXref UMLS:C4273967 semapv:UnspecifiedMatching +Orphanet:90395 Papular mucinosis of infancy oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90395 Papular mucinosis of infancy oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90395 Papular mucinosis of infancy oboInOwl:hasDbXref UMLS:C4273966 semapv:UnspecifiedMatching +Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90396 Acral persistent papular mucinosis oboInOwl:hasDbXref UMLS:C0406660 semapv:UnspecifiedMatching +Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90397 Self-healing papular mucinosis oboInOwl:hasDbXref UMLS:C5681464 semapv:UnspecifiedMatching +Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref UMLS:C5681465 semapv:UnspecifiedMatching +Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching +Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref UMLS:C5681466 semapv:UnspecifiedMatching +Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref ICD10:Q93.8 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref MedDRA:10049644 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref UMLS:C0175702 semapv:UnspecifiedMatching +Orphanet:904 Williams syndrome oboInOwl:hasDbXref icd11:LD44.70 semapv:UnspecifiedMatching +Orphanet:90400 Scleromyxedema without monoclonal gammopathy oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90400 Scleromyxedema without monoclonal gammopathy oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching +Orphanet:90400 Scleromyxedema without monoclonal gammopathy oboInOwl:hasDbXref UMLS:C5681463 semapv:UnspecifiedMatching +Orphanet:90400 Scleromyxedema without monoclonal gammopathy oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref MESH:D006527 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref MedDRA:10019819 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching +Orphanet:905 Wilson disease oboInOwl:hasDbXref UMLS:C0019202 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10:D82.0 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10:D82.0 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MedDRA:10047992 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:600903 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:614493 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS:C0043194 semapv:UnspecifiedMatching +Orphanet:906 Wiskott-Aldrich syndrome oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300030 semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300066 semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:300914 semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref OMIM:304500 semapv:UnspecifiedMatching +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600101 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600652 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600965 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:600994 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601316 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601317 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601369 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601412 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601543 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601544 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:601868 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:602459 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:603622 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:603964 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:604717 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:605192 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:605583 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606012 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606282 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606451 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:606705 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607017 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607197 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607453 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:607841 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608224 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608372 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608394 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608641 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608645 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:608652 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:609129 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:609965 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:612431 semapv:UnspecifiedMatching 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semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:614614 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:615629 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:615649 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:615654 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616044 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616340 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616357 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616697 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616707 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616968 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:616969 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:617605 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:617606 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:617663 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618094 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618140 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618410 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618778 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618787 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:618915 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:619081 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:619086 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:619274 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref OMIM:620227 semapv:UnspecifiedMatching +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:220290 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600060 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600316 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600791 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600792 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600971 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:600974 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601071 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601072 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601386 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:601869 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:602092 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603010 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603098 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603629 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603678 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:603720 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:604060 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:605428 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:605818 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607039 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607084 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607101 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607239 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:607821 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608219 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608264 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608265 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608565 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:608653 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609006 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609439 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609533 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609646 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609647 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609706 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609823 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609941 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609946 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:609952 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610143 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610153 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610154 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610212 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610220 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610248 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610265 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:610419 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:611022 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:611451 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:612433 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:612645 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:612789 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613079 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613285 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613307 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613391 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613392 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613453 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613685 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613718 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613865 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:613916 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614035 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614414 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614617 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614861 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614899 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614934 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614944 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:614945 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615429 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615540 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615837 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:615974 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:616042 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:616515 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:616705 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:617637 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:617639 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:617654 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618145 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618257 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618410 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618422 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618434 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618456 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:618481 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619093 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619174 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619500 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619615 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:619804 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref OMIM:620238 semapv:UnspecifiedMatching +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB oboInOwl:hasDbXref icd11:AB50 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:221745 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:500008 semapv:UnspecifiedMatching +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:580000 semapv:UnspecifiedMatching +Orphanet:90642 Syndromic genetic deafness oboInOwl:hasDbXref icd11:LD2H semapv:UnspecifiedMatching +Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:H90.6 semapv:UnspecifiedMatching +Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref MESH:C564435 semapv:UnspecifiedMatching +Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref OMIM:304350 semapv:UnspecifiedMatching +Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C1844680 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref ICD10:I45.8 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref MedDRA:10057936 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching +Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 semapv:UnspecifiedMatching +Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref OMIM:608518 semapv:UnspecifiedMatching +Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref UMLS:C0796100 semapv:UnspecifiedMatching +Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref MESH:C536065 semapv:UnspecifiedMatching +Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311300 semapv:UnspecifiedMatching +Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C0265251 semapv:UnspecifiedMatching +Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching +Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538089 semapv:UnspecifiedMatching +Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref OMIM:304120 semapv:UnspecifiedMatching +Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C1844696 semapv:UnspecifiedMatching +Orphanet:90652 Otopalatodigital syndrome type 2 oboInOwl:hasDbXref icd11:LD25.1 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref MESH:C537492 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref UMLS:C2020284 semapv:UnspecifiedMatching +Orphanet:90653 Stickler syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref MESH:C537493 semapv:UnspecifiedMatching +Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching +Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref UMLS:C1858084 semapv:UnspecifiedMatching +Orphanet:90654 Stickler syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref MESH:C537986 semapv:UnspecifiedMatching +Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref OMIM:118300 semapv:UnspecifiedMatching +Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref UMLS:C2931686 semapv:UnspecifiedMatching +Orphanet:90658 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref MESH:C576976 semapv:UnspecifiedMatching +Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref OMIM:275200 semapv:UnspecifiedMatching +Orphanet:90673 Hypothyroidism due to TSH receptor mutations oboInOwl:hasDbXref UMLS:C3493776 semapv:UnspecifiedMatching +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref MESH:C000610012 semapv:UnspecifiedMatching +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref OMIM:275100 semapv:UnspecifiedMatching +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency oboInOwl:hasDbXref UMLS:C4082174 semapv:UnspecifiedMatching +Orphanet:90692 Rare endocrine growth disease oboInOwl:hasDbXref UMLS:C5681460 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref MedDRA:10033662 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:312000 semapv:UnspecifiedMatching +Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref UMLS:C5680191 semapv:UnspecifiedMatching +Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching +Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching +Orphanet:90771 Difference of sex development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching +Orphanet:90771 Difference of sex development oboInOwl:hasDbXref MedDRA:10070597 semapv:UnspecifiedMatching +Orphanet:90771 Difference of sex development oboInOwl:hasDbXref UMLS:C0036875 semapv:UnspecifiedMatching +Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess oboInOwl:hasDbXref UMLS:C5680189 semapv:UnspecifiedMatching +Orphanet:90783 46,XY difference of sex development due to a testosterone synthesis defect oboInOwl:hasDbXref UMLS:C5680188 semapv:UnspecifiedMatching +Orphanet:90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect oboInOwl:hasDbXref UMLS:C5680187 semapv:UnspecifiedMatching +Orphanet:90787 46,XY difference of sex development due to testicular steroidogenesis defect oboInOwl:hasDbXref UMLS:C5680186 semapv:UnspecifiedMatching +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref MESH:C537027 semapv:UnspecifiedMatching +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref OMIM:201710 semapv:UnspecifiedMatching +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref UMLS:C0342474 semapv:UnspecifiedMatching +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref MESH:C538236 semapv:UnspecifiedMatching +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201810 semapv:UnspecifiedMatching +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0342471 semapv:UnspecifiedMatching +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref MESH:C538237 semapv:UnspecifiedMatching +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0268285 semapv:UnspecifiedMatching +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C4273964 semapv:UnspecifiedMatching +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535978 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref MedDRA:10000002 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:202010 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0268292 semapv:UnspecifiedMatching +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching +Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching +Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref UMLS:C5681470 semapv:UnspecifiedMatching +Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching +Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching +Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching +Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0268301 semapv:UnspecifiedMatching +Orphanet:90797 Partial androgen insensitivity syndrome oboInOwl:hasDbXref icd11:LD2A.4 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref ICD10:Q99.2 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref MedDRA:10017324 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching +Orphanet:908 Fragile X syndrome oboInOwl:hasDbXref UMLS:C0016667 semapv:UnspecifiedMatching +Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching +Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching +Orphanet:909 Cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS:C0238052 semapv:UnspecifiedMatching +Orphanet:90970 Primary lipodystrophy oboInOwl:hasDbXref UMLS:C5681471 semapv:UnspecifiedMatching +Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching +Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref ICD10:E25.8 semapv:UnspecifiedMatching +Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref MESH:C537436 semapv:UnspecifiedMatching +Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref OMIM:613546 semapv:UnspecifiedMatching +Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref UMLS:C1960539 semapv:UnspecifiedMatching +Orphanet:91 Aromatase deficiency oboInOwl:hasDbXref icd11:5A9Y semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref MESH:D014983 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref MedDRA:10048220 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:194400 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278700 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278720 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278740 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:610651 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref UMLS:C0043346 semapv:UnspecifiedMatching +Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref icd11:LD27.1 semapv:UnspecifiedMatching +Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680194 semapv:UnspecifiedMatching +Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref MESH:C536722 semapv:UnspecifiedMatching +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref OMIM:269840 semapv:UnspecifiedMatching +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXref UMLS:C2931299 semapv:UnspecifiedMatching +Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref ICD10:B34.0 semapv:UnspecifiedMatching +Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref UMLS:C5681468 semapv:UnspecifiedMatching +Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:610773 semapv:UnspecifiedMatching +Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref UMLS:C5681469 semapv:UnspecifiedMatching +Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref icd11:5C53.30 semapv:UnspecifiedMatching +Orphanet:91131 DK1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:91131 DK1-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:91131 DK1-CDG oboInOwl:hasDbXref MESH:C563666 semapv:UnspecifiedMatching +Orphanet:91131 DK1-CDG oboInOwl:hasDbXref OMIM:610768 semapv:UnspecifiedMatching +Orphanet:91131 DK1-CDG oboInOwl:hasDbXref UMLS:C1835849 semapv:UnspecifiedMatching +Orphanet:91131 DK1-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:602400 semapv:UnspecifiedMatching +Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C4510566 semapv:UnspecifiedMatching +Orphanet:91132 Ichthyosis-hypotrichosis syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref OMIM:610842 semapv:UnspecifiedMatching +Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency oboInOwl:hasDbXref UMLS:C4049241 semapv:UnspecifiedMatching +Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome oboInOwl:hasDbXref UMLS:C4510369 semapv:UnspecifiedMatching +Orphanet:91137 Immunotactoid or fibrillary glomerulopathy oboInOwl:hasDbXref UMLS:C5680195 semapv:UnspecifiedMatching +Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching +Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref MedDRA:10027756 semapv:UnspecifiedMatching +Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref OMIM:123550 semapv:UnspecifiedMatching +Orphanet:91138 Cryoglobulinemic vasculitis oboInOwl:hasDbXref UMLS:C0340992 semapv:UnspecifiedMatching +Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching +Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref UMLS:C4510006 semapv:UnspecifiedMatching +Orphanet:91139 Simple cryoglobulinemia oboInOwl:hasDbXref icd11:4B22 semapv:UnspecifiedMatching +Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching +Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref ICD10:M08.8 semapv:UnspecifiedMatching +Orphanet:91140 Unspecified juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C5680196 semapv:UnspecifiedMatching +Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen oboInOwl:hasDbXref UMLS:C5680197 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref MESH:D015211 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref MedDRA:10053684 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:214100 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:214110 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614859 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614862 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614866 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614870 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614872 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614876 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614882 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614883 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614886 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching +Orphanet:912 Zellweger syndrome oboInOwl:hasDbXref UMLS:C0043459 semapv:UnspecifiedMatching +Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10:E16.4 semapv:UnspecifiedMatching +Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10:E16.4 semapv:UnspecifiedMatching +Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015043 semapv:UnspecifiedMatching +Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref MedDRA:10017852 semapv:UnspecifiedMatching +Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref UMLS:C0043515 semapv:UnspecifiedMatching +Orphanet:913 Zollinger-Ellison syndrome oboInOwl:hasDbXref icd11:5A43.1 semapv:UnspecifiedMatching +Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:91347 TSH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C0346303 semapv:UnspecifiedMatching +Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:91348 Functioning gonadotropic adenoma oboInOwl:hasDbXref UMLS:C0346304 semapv:UnspecifiedMatching +Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:91349 Non-functioning pituitary adenoma oboInOwl:hasDbXref UMLS:C0338078 semapv:UnspecifiedMatching +Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts oboInOwl:hasDbXref UMLS:C5190782 semapv:UnspecifiedMatching +Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref UMLS:C5190781 semapv:UnspecifiedMatching +Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1333813 semapv:UnspecifiedMatching +Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref UMLS:C4275064 semapv:UnspecifiedMatching +Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref MedDRA:10036297 semapv:UnspecifiedMatching +Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref UMLS:C0242342 semapv:UnspecifiedMatching +Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching +Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching +Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref UMLS:C0266133 semapv:UnspecifiedMatching +Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref icd11:LB12.4 semapv:UnspecifiedMatching +Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching +Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref UMLS:C3872848 semapv:UnspecifiedMatching +Orphanet:91359 Chronic pneumonitis of infancy oboInOwl:hasDbXref icd11:CB04.6 semapv:UnspecifiedMatching +Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref UMLS:C1290344 semapv:UnspecifiedMatching +Orphanet:91364 Non-specific interstitial pneumonia oboInOwl:hasDbXref icd11:CB03.Y semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref MESH:D054179 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref MedDRA:10019860 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619360 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619361 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619363 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref OMIM:619366 semapv:UnspecifiedMatching +Orphanet:91378 Hereditary angioedema oboInOwl:hasDbXref UMLS:C0019243 semapv:UnspecifiedMatching +Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref MESH:C538173 semapv:UnspecifiedMatching +Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref MedDRA:10081035 semapv:UnspecifiedMatching +Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref OMIM:300909 semapv:UnspecifiedMatching +Orphanet:91385 Acquired angioedema oboInOwl:hasDbXref UMLS:C2931758 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:132900 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:607087 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:611788 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:613780 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:614816 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:615436 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:615582 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:616166 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:617168 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:619656 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref OMIM:619825 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref UMLS:C4707243 semapv:UnspecifiedMatching +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection oboInOwl:hasDbXref icd11:LD28.0Y semapv:UnspecifiedMatching +Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching +Orphanet:91396 Isolated cryptophthalmia oboInOwl:hasDbXref UMLS:C4305274 semapv:UnspecifiedMatching +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref MESH:C536373 semapv:UnspecifiedMatching +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref UMLS:C1302999 semapv:UnspecifiedMatching +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum oboInOwl:hasDbXref icd11:LA14.07 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref ICD10:Q10.0 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref ICD10:Q10.0 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref MedDRA:10015996 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:178300 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:300245 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref UMLS:C0266573 semapv:UnspecifiedMatching +Orphanet:91411 Congenital ptosis oboInOwl:hasDbXref icd11:LA14.04 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref MESH:C535908 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref MedDRA:10064583 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref OMIM:154600 semapv:UnspecifiedMatching +Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref UMLS:C0266521 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref MESH:C564178 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref UMLS:C1840475 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.3 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.4 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.6 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref ICD10:D23.6 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref MedDRA:10035040 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref OMIM:132600 semapv:UnspecifiedMatching +Orphanet:91414 Pilomatrixoma oboInOwl:hasDbXref UMLS:C0206711 semapv:UnspecifiedMatching +Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref ICD10:Q10.6 semapv:UnspecifiedMatching +Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:103420 semapv:UnspecifiedMatching +Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref OMIM:601549 semapv:UnspecifiedMatching +Orphanet:91416 Isolated congenital alacrima oboInOwl:hasDbXref UMLS:C4273963 semapv:UnspecifiedMatching +Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref ICD10:D31.1 semapv:UnspecifiedMatching +Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 semapv:UnspecifiedMatching +Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 semapv:UnspecifiedMatching +Orphanet:91481 Ring dermoid of cornea oboInOwl:hasDbXref UMLS:C1867155 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref MedDRA:10059198 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:137600 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching +Orphanet:91483 Rieger anomaly oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching +Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching +Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref OMIM:309300 semapv:UnspecifiedMatching +Orphanet:91489 Isolated congenital megalocornea oboInOwl:hasDbXref UMLS:C4518341 semapv:UnspecifiedMatching +Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref ICD10:Q13.3 semapv:UnspecifiedMatching +Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref OMIM:181700 semapv:UnspecifiedMatching +Orphanet:91490 Isolated congenital sclerocornea oboInOwl:hasDbXref UMLS:C5681467 semapv:UnspecifiedMatching +Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching +Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref UMLS:C1303012 semapv:UnspecifiedMatching +Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115900 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:212500 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:302200 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601885 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604307 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605387 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605749 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609741 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610202 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610425 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610623 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611544 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611597 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614691 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615188 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615277 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching +Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref UMLS:C0009691 semapv:UnspecifiedMatching +Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref OMIM:216800 semapv:UnspecifiedMatching +Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref UMLS:C4302525 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref ICD10:Q14.0 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref MESH:D054514 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:221900 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:611308 semapv:UnspecifiedMatching +Orphanet:91495 Persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C0266568 semapv:UnspecifiedMatching +Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 semapv:UnspecifiedMatching +Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 semapv:UnspecifiedMatching +Orphanet:91496 Snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C1860405 semapv:UnspecifiedMatching +Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching +Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching +Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref MESH:C565007 semapv:UnspecifiedMatching +Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref OMIM:136480 semapv:UnspecifiedMatching +Orphanet:91498 Familial congenital palsy of trochlear nerve oboInOwl:hasDbXref UMLS:C1850996 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref MESH:C535331 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref MedDRA:10067148 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref OMIM:100050 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref OMIM:305400 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref UMLS:C0175701 semapv:UnspecifiedMatching +Orphanet:915 Aarskog-Scott syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref ICD10:N10 semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref ICD10:N10 semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MESH:C536922 semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref MedDRA:10069034 semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref OMIM:607665 semapv:UnspecifiedMatching +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome oboInOwl:hasDbXref UMLS:C1843273 semapv:UnspecifiedMatching +Orphanet:91546 Lyme disease oboInOwl:hasDbXref ICD10:A69.2 semapv:UnspecifiedMatching +Orphanet:91546 Lyme disease oboInOwl:hasDbXref MESH:D008193 semapv:UnspecifiedMatching +Orphanet:91546 Lyme disease oboInOwl:hasDbXref MedDRA:10025169 semapv:UnspecifiedMatching +Orphanet:91546 Lyme disease oboInOwl:hasDbXref UMLS:C0024198 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.0 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.1 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.9 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref ICD10:A68.9 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref MedDRA:10038300 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref UMLS:C0035021 semapv:UnspecifiedMatching +Orphanet:91547 Relapsing fever oboInOwl:hasDbXref icd11:1C1J semapv:UnspecifiedMatching +Orphanet:916 Aase-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:916 Aase-Smith syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:916 Aase-Smith syndrome oboInOwl:hasDbXref MESH:C535332 semapv:UnspecifiedMatching +Orphanet:916 Aase-Smith syndrome oboInOwl:hasDbXref MedDRA:10063429 semapv:UnspecifiedMatching +Orphanet:916 Aase-Smith syndrome oboInOwl:hasDbXref OMIM:147800 semapv:UnspecifiedMatching +Orphanet:916 Aase-Smith syndrome oboInOwl:hasDbXref UMLS:C0220686 semapv:UnspecifiedMatching +Orphanet:918 ABCD syndrome oboInOwl:hasDbXref MESH:C535334 semapv:UnspecifiedMatching +Orphanet:918 ABCD syndrome oboInOwl:hasDbXref OMIM:600501 semapv:UnspecifiedMatching +Orphanet:918 ABCD syndrome oboInOwl:hasDbXref UMLS:C1838099 semapv:UnspecifiedMatching +Orphanet:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref MESH:D001171 semapv:UnspecifiedMatching +Orphanet:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref MedDRA:10059176 semapv:UnspecifiedMatching +Orphanet:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref UMLS:C3495559 semapv:UnspecifiedMatching +Orphanet:92 Juvenile idiopathic arthritis oboInOwl:hasDbXref icd11:FA24 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref MESH:C535557 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref MedDRA:10083860 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref OMIM:200110 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS:C1860224 semapv:UnspecifiedMatching +Orphanet:920 Ablepharon macrostomia syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref ICD10:P78.3 semapv:UnspecifiedMatching +Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref OMIM:613217 semapv:UnspecifiedMatching +Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref UMLS:C4275062 semapv:UnspecifiedMatching +Orphanet:92050 Congenital tufting enteropathy oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching +Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MESH:C535559 semapv:UnspecifiedMatching +Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref OMIM:302905 semapv:UnspecifiedMatching +Orphanet:921 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS:C1844862 semapv:UnspecifiedMatching +Orphanet:922 Familial nasal acilia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:922 Familial nasal acilia oboInOwl:hasDbXref UMLS:C4706505 semapv:UnspecifiedMatching +Orphanet:924 NON RARE IN EUROPE: Acanthosis nigricans oboInOwl:hasDbXref ICD10:L83 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref ICD10:E80.3 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref MESH:D020642 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref MedDRA:10086141 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching +Orphanet:926 Acatalasemia oboInOwl:hasDbXref UMLS:C0268419 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ICD10:E72.2 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref MESH:C536109 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref MedDRA:10071092 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref OMIM:237310 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref UMLS:C0268543 semapv:UnspecifiedMatching +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching +Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q39.5 semapv:UnspecifiedMatching +Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q39.5 semapv:UnspecifiedMatching +Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref MESH:C536010 semapv:UnspecifiedMatching +Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref OMIM:200450 semapv:UnspecifiedMatching +Orphanet:929 Achalasia-microcephaly syndrome oboInOwl:hasDbXref UMLS:C1860212 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MESH:D054880 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref MedDRA:10068220 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref OMIM:208400 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref UMLS:C0268225 semapv:UnspecifiedMatching +Orphanet:93 Aspartylglucosaminuria oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref ICD10:K22.0 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref ICD10:K22.0 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref MESH:C536011 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref MedDRA:10036669 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref UMLS:C0859976 semapv:UnspecifiedMatching +Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref icd11:DA21.0 semapv:UnspecifiedMatching +Orphanet:931 Acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:931 Acheiropodia oboInOwl:hasDbXref MESH:C536014 semapv:UnspecifiedMatching +Orphanet:931 Acheiropodia oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching +Orphanet:931 Acheiropodia oboInOwl:hasDbXref UMLS:C0265559 semapv:UnspecifiedMatching +Orphanet:931 Acheiropodia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching +Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching +Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching +Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref MedDRA:10053624 semapv:UnspecifiedMatching +Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref OMIM:617805 semapv:UnspecifiedMatching +Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref UMLS:C0266294 semapv:UnspecifiedMatching +Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref icd11:LB30.00 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.5 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref ICD10:Q60.5 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref MedDRA:10049102 semapv:UnspecifiedMatching +Orphanet:93101 Renal hypoplasia oboInOwl:hasDbXref UMLS:C0266295 semapv:UnspecifiedMatching +Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref MedDRA:10038433 semapv:UnspecifiedMatching +Orphanet:93108 Renal dysplasia oboInOwl:hasDbXref UMLS:C3536714 semapv:UnspecifiedMatching +Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref UMLS:C5545379 semapv:UnspecifiedMatching +Orphanet:93109 Congenital megacalycosis oboInOwl:hasDbXref icd11:LB31.Y semapv:UnspecifiedMatching +Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref ICD10:Q64.2 semapv:UnspecifiedMatching +Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref MedDRA:10036369 semapv:UnspecifiedMatching +Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref OMIM:618612 semapv:UnspecifiedMatching +Orphanet:93110 Posterior urethral valve oboInOwl:hasDbXref UMLS:C0238506 semapv:UnspecifiedMatching +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:N11.8 semapv:UnspecifiedMatching +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C535520 semapv:UnspecifiedMatching +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C0431693 semapv:UnspecifiedMatching +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref OMIM:614455 semapv:UnspecifiedMatching +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref UMLS:C4302667 semapv:UnspecifiedMatching +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching +Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching +Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching +Orphanet:93126 Pauci-immune glomerulonephritis oboInOwl:hasDbXref UMLS:C0343196 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref ICD10:E83.3 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:277440 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:600785 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref OMIM:619073 semapv:UnspecifiedMatching +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets oboInOwl:hasDbXref UMLS:C3536983 semapv:UnspecifiedMatching +Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching +Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching +Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref UMLS:C4273962 semapv:UnspecifiedMatching +Orphanet:93164 Transient pseudohypoaldosteronism oboInOwl:hasDbXref icd11:GB90.4Y semapv:UnspecifiedMatching +Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:93172 Renal dysplasia, unilateral oboInOwl:hasDbXref UMLS:C0431697 semapv:UnspecifiedMatching +Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:93173 Renal dysplasia, bilateral oboInOwl:hasDbXref UMLS:C0431698 semapv:UnspecifiedMatching +Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref UMLS:C5681456 semapv:UnspecifiedMatching +Orphanet:93176 Unilateral congenital megacalycosis oboInOwl:hasDbXref icd11:LB31.Y semapv:UnspecifiedMatching +Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref UMLS:C5681455 semapv:UnspecifiedMatching +Orphanet:93177 Congenital bilateral megacalycosis oboInOwl:hasDbXref icd11:LB31.Y semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref MESH:C579878 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref MedDRA:10066122 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref OMIM:600972 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref UMLS:C0001079 semapv:UnspecifiedMatching +Orphanet:932 Achondrogenesis oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref MESH:C564105 semapv:UnspecifiedMatching +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref OMIM:300623 semapv:UnspecifiedMatching +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref UMLS:C1839780 semapv:UnspecifiedMatching +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching +Orphanet:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref UMLS:C5438812 semapv:UnspecifiedMatching +Orphanet:93258 Pfeiffer syndrome type 1 oboInOwl:hasDbXref icd11:LD24.G0 semapv:UnspecifiedMatching +Orphanet:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching +Orphanet:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref UMLS:C5438849 semapv:UnspecifiedMatching +Orphanet:93259 Pfeiffer syndrome type 2 oboInOwl:hasDbXref icd11:LD24.G0 semapv:UnspecifiedMatching +Orphanet:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching +Orphanet:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref UMLS:C5438850 semapv:UnspecifiedMatching +Orphanet:93260 Pfeiffer syndrome type 3 oboInOwl:hasDbXref icd11:LD24.G0 semapv:UnspecifiedMatching +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref ICD10:Q75.1 semapv:UnspecifiedMatching +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref MESH:C567382 semapv:UnspecifiedMatching +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref UMLS:C2677099 semapv:UnspecifiedMatching +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref MESH:C564611 semapv:UnspecifiedMatching +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref OMIM:607161 semapv:UnspecifiedMatching +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref UMLS:C1846671 semapv:UnspecifiedMatching +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref MESH:C537599 semapv:UnspecifiedMatching +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref OMIM:269860 semapv:UnspecifiedMatching +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type oboInOwl:hasDbXref UMLS:C0432198 semapv:UnspecifiedMatching +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref OMIM:263520 semapv:UnspecifiedMatching +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type oboInOwl:hasDbXref UMLS:C0024507 semapv:UnspecifiedMatching +Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching +Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type oboInOwl:hasDbXref UMLS:C0036069 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref MESH:C537602 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:615503 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type oboInOwl:hasDbXref UMLS:C0432197 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref ICD10:Q77.1 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref MESH:C536508 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:156830 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching +Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref UMLS:C1300257 semapv:UnspecifiedMatching +Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref MESH:C536506 semapv:UnspecifiedMatching +Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching +Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref UMLS:C1848865 semapv:UnspecifiedMatching +Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:Q78.1 semapv:UnspecifiedMatching +Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching +Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref MedDRA:10036120 semapv:UnspecifiedMatching +Orphanet:93276 Polyostotic fibrous dysplasia oboInOwl:hasDbXref UMLS:C0016065 semapv:UnspecifiedMatching +Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref MESH:D005358 semapv:UnspecifiedMatching +Orphanet:93277 Monostotic fibrous dysplasia oboInOwl:hasDbXref UMLS:C0016064 semapv:UnspecifiedMatching +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref OMIM:604864 semapv:UnspecifiedMatching +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref UMLS:C4275063 semapv:UnspecifiedMatching +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref MESH:C535789 semapv:UnspecifiedMatching +Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref UMLS:C1837657 semapv:UnspecifiedMatching +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref MESH:C567551 semapv:UnspecifiedMatching +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref OMIM:612847 semapv:UnspecifiedMatching +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref UMLS:C2748515 semapv:UnspecifiedMatching +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref MESH:C564252 semapv:UnspecifiedMatching +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref OMIM:608361 semapv:UnspecifiedMatching +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref UMLS:C1842149 semapv:UnspecifiedMatching +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:184100 semapv:UnspecifiedMatching +Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:271600 semapv:UnspecifiedMatching +Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:313400 semapv:UnspecifiedMatching +Orphanet:93284 Spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref ICD10:D13.6 semapv:UnspecifiedMatching +Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref ICD10:D13.6 semapv:UnspecifiedMatching +Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref MESH:C538110 semapv:UnspecifiedMatching +Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref MedDRA:10058902 semapv:UnspecifiedMatching +Orphanet:93292 Adenoma of pancreas oboInOwl:hasDbXref UMLS:C1142432 semapv:UnspecifiedMatching +Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching +Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref UMLS:C1623209 semapv:UnspecifiedMatching +Orphanet:93293 Okihiro syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref MESH:C536017 semapv:UnspecifiedMatching +Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching +Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref UMLS:C0220685 semapv:UnspecifiedMatching +Orphanet:93296 Achondrogenesis type 2 oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching +Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref MESH:C563007 semapv:UnspecifiedMatching +Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching +Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref UMLS:C0542428 semapv:UnspecifiedMatching +Orphanet:93297 Hypochondrogenesis oboInOwl:hasDbXref icd11:LD24.51 semapv:UnspecifiedMatching +Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref MESH:C536016 semapv:UnspecifiedMatching +Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref OMIM:600972 semapv:UnspecifiedMatching +Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref UMLS:C0265274 semapv:UnspecifiedMatching +Orphanet:93298 Achondrogenesis type 1B oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching +Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref ICD10:Q77.0 semapv:UnspecifiedMatching +Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref MESH:C536015 semapv:UnspecifiedMatching +Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching +Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref UMLS:C0265273 semapv:UnspecifiedMatching +Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching +Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching +Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref MESH:C563218 semapv:UnspecifiedMatching +Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching +Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref UMLS:C5399913 semapv:UnspecifiedMatching +Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching +Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching +Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref MESH:C562963 semapv:UnspecifiedMatching +Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref OMIM:113500 semapv:UnspecifiedMatching +Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref UMLS:C0432227 semapv:UnspecifiedMatching +Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref MESH:C535504 semapv:UnspecifiedMatching +Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching +Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref UMLS:C1847593 semapv:UnspecifiedMatching +Orphanet:93307 Multiple epiphyseal dysplasia type 4 oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref MESH:C535501 semapv:UnspecifiedMatching +Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref OMIM:132400 semapv:UnspecifiedMatching +Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref UMLS:C1838280 semapv:UnspecifiedMatching +Orphanet:93308 Multiple epiphyseal dysplasia type 1 oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref MESH:C535505 semapv:UnspecifiedMatching +Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref OMIM:607078 semapv:UnspecifiedMatching +Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref UMLS:C1846843 semapv:UnspecifiedMatching +Orphanet:93311 Multiple epiphyseal dysplasia type 5 oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref MESH:C535797 semapv:UnspecifiedMatching +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref OMIM:184252 semapv:UnspecifiedMatching +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref UMLS:C0265280 semapv:UnspecifiedMatching +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref MESH:C535793 semapv:UnspecifiedMatching +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref OMIM:184255 semapv:UnspecifiedMatching +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref UMLS:C0432221 semapv:UnspecifiedMatching +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref MESH:C535794 semapv:UnspecifiedMatching +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref OMIM:184253 semapv:UnspecifiedMatching +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref UMLS:C1866688 semapv:UnspecifiedMatching +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref MESH:C535798 semapv:UnspecifiedMatching +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref UMLS:C1855229 semapv:UnspecifiedMatching +Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching +Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching +Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref UMLS:C0265583 semapv:UnspecifiedMatching +Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref icd11:LB99.3 semapv:UnspecifiedMatching +Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching +Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching +Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref UMLS:C0265581 semapv:UnspecifiedMatching +Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching +Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref MESH:C535563 semapv:UnspecifiedMatching +Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref OMIM:275220 semapv:UnspecifiedMatching +Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref UMLS:C0265633 semapv:UnspecifiedMatching +Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref icd11:LB9A.1 semapv:UnspecifiedMatching +Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching +Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref UMLS:C0265634 semapv:UnspecifiedMatching +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref MESH:C537021 semapv:UnspecifiedMatching +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C1855648 semapv:UnspecifiedMatching +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref UMLS:C5681457 semapv:UnspecifiedMatching +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref MESH:C567664 semapv:UnspecifiedMatching +Orphanet:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching +Orphanet:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref UMLS:C2750355 semapv:UnspecifiedMatching +Orphanet:93328 Autosomal dominant omodysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref MESH:C537746 semapv:UnspecifiedMatching +Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching +Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref MESH:C535550 semapv:UnspecifiedMatching +Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref OMIM:260660 semapv:UnspecifiedMatching +Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref UMLS:C1850040 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:263450 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:602085 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:607324 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:608562 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:615226 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:618219 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref OMIM:618498 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref UMLS:C3887487 semapv:UnspecifiedMatching +Orphanet:93334 Postaxial polydactyly type A oboInOwl:hasDbXref icd11:LB78.2 semapv:UnspecifiedMatching +Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching +Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref UMLS:C1868120 semapv:UnspecifiedMatching +Orphanet:93335 Postaxial polydactyly type B oboInOwl:hasDbXref icd11:LB78.2 semapv:UnspecifiedMatching +Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching +Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching +Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref UMLS:C1868114 semapv:UnspecifiedMatching +Orphanet:93336 Polydactyly of a triphalangeal thumb oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching +Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref MESH:C566784 semapv:UnspecifiedMatching +Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref OMIM:174600 semapv:UnspecifiedMatching +Orphanet:93337 Polydactyly of an index finger oboInOwl:hasDbXref UMLS:C1868113 semapv:UnspecifiedMatching +Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching +Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching +Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref MedDRA:10063143 semapv:UnspecifiedMatching +Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching +Orphanet:93338 Polysyndactyly oboInOwl:hasDbXref UMLS:C0265553 semapv:UnspecifiedMatching +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref ICD10:Q69.1 semapv:UnspecifiedMatching +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref MESH:C536332 semapv:UnspecifiedMatching +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref OMIM:174400 semapv:UnspecifiedMatching +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref UMLS:C1395852 semapv:UnspecifiedMatching +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref UMLS:C5681459 semapv:UnspecifiedMatching +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref MESH:C538256 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:607095 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:617396 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref OMIM:618853 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref UMLS:C1846796 semapv:UnspecifiedMatching +Orphanet:93347 Anauxetic dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref MESH:C564714 semapv:UnspecifiedMatching +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 semapv:UnspecifiedMatching +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1848097 semapv:UnspecifiedMatching +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref MESH:C562958 semapv:UnspecifiedMatching +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref OMIM:271650 semapv:UnspecifiedMatching +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref UMLS:C0432213 semapv:UnspecifiedMatching +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref MESH:C566523 semapv:UnspecifiedMatching +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref OMIM:602557 semapv:UnspecifiedMatching +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref UMLS:C1865185 semapv:UnspecifiedMatching +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref MESH:C566574 semapv:UnspecifiedMatching +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref UMLS:C1865832 semapv:UnspecifiedMatching +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref MESH:C535786 semapv:UnspecifiedMatching +Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref OMIM:271510 semapv:UnspecifiedMatching +Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref UMLS:C1300260 semapv:UnspecifiedMatching +Orphanet:93357 SPONASTRIME dysplasia oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref OMIM:271665 semapv:UnspecifiedMatching +Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref UMLS:C4707851 semapv:UnspecifiedMatching +Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref MESH:C535784 semapv:UnspecifiedMatching +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref OMIM:603546 semapv:UnspecifiedMatching +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref UMLS:C1863732 semapv:UnspecifiedMatching +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref ICD10:E83.5 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MESH:C537145 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref MedDRA:10068704 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref UMLS:C0342637 semapv:UnspecifiedMatching +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 oboInOwl:hasDbXref icd11:5A51.2 semapv:UnspecifiedMatching +Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref MESH:C537092 semapv:UnspecifiedMatching +Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref OMIM:112910 semapv:UnspecifiedMatching +Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref UMLS:C1862130 semapv:UnspecifiedMatching +Orphanet:93382 Brachydactyly type A6 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching +Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching +Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref UMLS:C1300267 semapv:UnspecifiedMatching +Orphanet:93383 Brachydactyly type B oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:UnspecifiedMatching +Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching +Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref UMLS:C1862103 semapv:UnspecifiedMatching +Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref MESH:C566194 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref OMIM:113300 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref OMIM:613382 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref UMLS:C4315392 semapv:UnspecifiedMatching +Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref MESH:C537088 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:112500 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:607004 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:615072 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:616849 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref UMLS:C1862151 semapv:UnspecifiedMatching +Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref UMLS:C1862138 semapv:UnspecifiedMatching +Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref MESH:C537097 semapv:UnspecifiedMatching +Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching +Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref UMLS:C1862139 semapv:UnspecifiedMatching +Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref OMIM:112440 semapv:UnspecifiedMatching +Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref UMLS:C1862163 semapv:UnspecifiedMatching +Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref MESH:C537089 semapv:UnspecifiedMatching +Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref OMIM:112600 semapv:UnspecifiedMatching +Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref UMLS:C1832702 semapv:UnspecifiedMatching +Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref UMLS:C4303991 semapv:UnspecifiedMatching +Orphanet:93397 Brachydactyly type A7 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching +Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching +Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching +Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref UMLS:C4511481 semapv:UnspecifiedMatching +Orphanet:93398 Genochondromatosis type 2 oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching +Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref UMLS:C5681598 semapv:UnspecifiedMatching +Orphanet:93399 Juvenile sialidosis type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching +Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching +Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref UMLS:C5681599 semapv:UnspecifiedMatching +Orphanet:93400 Congenital sialidosis type 2 oboInOwl:hasDbXref icd11:5C56.21 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref ICD10:Q70.3 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref MESH:C566096 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching +Orphanet:93402 Syndactyly type 1 oboInOwl:hasDbXref UMLS:C1861380 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref MESH:C538153 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching +Orphanet:93403 Syndactyly type 2 oboInOwl:hasDbXref UMLS:C2699746 semapv:UnspecifiedMatching +Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref ICD10:Q70.1 semapv:UnspecifiedMatching +Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching +Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref OMIM:186100 semapv:UnspecifiedMatching +Orphanet:93404 Syndactyly type 3 oboInOwl:hasDbXref UMLS:C1861366 semapv:UnspecifiedMatching +Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching +Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref ICD10:Q70.4 semapv:UnspecifiedMatching +Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref MESH:C566092 semapv:UnspecifiedMatching +Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching +Orphanet:93405 Syndactyly type 4 oboInOwl:hasDbXref UMLS:C1861355 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref ICD10:Q70.2 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref MESH:C538155 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref OMIM:186300 semapv:UnspecifiedMatching +Orphanet:93406 Syndactyly type 5 oboInOwl:hasDbXref UMLS:C1861348 semapv:UnspecifiedMatching +Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching +Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref OMIM:610713 semapv:UnspecifiedMatching +Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref UMLS:C4303990 semapv:UnspecifiedMatching +Orphanet:93409 Brachydactyly-syndactyly, Zhao type oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:93419 Rare bone disease oboInOwl:hasDbXref UMLS:C5681602 semapv:UnspecifiedMatching +Orphanet:93420 FGFR3-related chondrodysplasia oboInOwl:hasDbXref UMLS:C5681604 semapv:UnspecifiedMatching +Orphanet:93421 Type 2 collagen-related bone disorder oboInOwl:hasDbXref UMLS:C5681603 semapv:UnspecifiedMatching +Orphanet:93422 Type 11 collagen-related bone disorder oboInOwl:hasDbXref UMLS:C5681606 semapv:UnspecifiedMatching +Orphanet:93423 Sulfation-related bone disorder oboInOwl:hasDbXref UMLS:C5681607 semapv:UnspecifiedMatching +Orphanet:93424 Perlecan-related bone disorder oboInOwl:hasDbXref UMLS:C5681608 semapv:UnspecifiedMatching +Orphanet:93425 Filamin-related bone disorder oboInOwl:hasDbXref UMLS:C5680280 semapv:UnspecifiedMatching +Orphanet:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref OMIM:617405 semapv:UnspecifiedMatching +Orphanet:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref UMLS:C0432195 semapv:UnspecifiedMatching +Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia oboInOwl:hasDbXref UMLS:C5681609 semapv:UnspecifiedMatching +Orphanet:93430 Multiple metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5681610 semapv:UnspecifiedMatching +Orphanet:93434 Spondylodysplastic dysplasia oboInOwl:hasDbXref icd11:LD24.5 semapv:UnspecifiedMatching +Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MESH:C535658 semapv:UnspecifiedMatching +Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MedDRA:10083866 semapv:UnspecifiedMatching +Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref UMLS:C5235036 semapv:UnspecifiedMatching +Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia oboInOwl:hasDbXref UMLS:C5681611 semapv:UnspecifiedMatching +Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching +Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:620076 semapv:UnspecifiedMatching +Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref UMLS:C0432238 semapv:UnspecifiedMatching +Orphanet:93440 Slender bone dysplasia oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching +Orphanet:93441 Primary bone dysplasia with multiple joint dislocations oboInOwl:hasDbXref UMLS:C5680275 semapv:UnspecifiedMatching +Orphanet:93441 Primary bone dysplasia with multiple joint dislocations oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching +Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref MESH:D002806 semapv:UnspecifiedMatching +Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref MedDRA:10087150 semapv:UnspecifiedMatching +Orphanet:93442 Chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0008445 semapv:UnspecifiedMatching +Orphanet:93443 Neonatal osteosclerotic dysplasia oboInOwl:hasDbXref UMLS:C1300205 semapv:UnspecifiedMatching +Orphanet:93444 Primary bone dysplasia with increased bone density oboInOwl:hasDbXref UMLS:C5680274 semapv:UnspecifiedMatching +Orphanet:93446 Primary bone dysplasia with decreased bone density oboInOwl:hasDbXref UMLS:C5680273 semapv:UnspecifiedMatching +Orphanet:93447 Primary bone dysplasia with defective bone mineralization oboInOwl:hasDbXref UMLS:C5680272 semapv:UnspecifiedMatching +Orphanet:93449 Primary osteolysis oboInOwl:hasDbXref UMLS:C5559806 semapv:UnspecifiedMatching +Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components oboInOwl:hasDbXref UMLS:C5680276 semapv:UnspecifiedMatching +Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect oboInOwl:hasDbXref UMLS:C5681593 semapv:UnspecifiedMatching +Orphanet:93453 Dysostosis with predominant craniofacial involvement oboInOwl:hasDbXref UMLS:C5681592 semapv:UnspecifiedMatching +Orphanet:93453 Dysostosis with predominant craniofacial involvement oboInOwl:hasDbXref icd11:LD25.3 semapv:UnspecifiedMatching +Orphanet:93454 Dysostosis with predominant vertebral and costal involvement oboInOwl:hasDbXref UMLS:C5681591 semapv:UnspecifiedMatching +Orphanet:93455 Patellar dysostosis oboInOwl:hasDbXref UMLS:C5681590 semapv:UnspecifiedMatching +Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref UMLS:C5680277 semapv:UnspecifiedMatching +Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref icd11:LB9A semapv:UnspecifiedMatching +Orphanet:93457 Non-syndromic limb reduction defect oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching +Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy oboInOwl:hasDbXref UMLS:C5681597 semapv:UnspecifiedMatching +Orphanet:93459 Syndrome with synostosis or other joint formation defect oboInOwl:hasDbXref UMLS:C5681596 semapv:UnspecifiedMatching +Orphanet:93460 Overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:93460 Overgrowth syndrome oboInOwl:hasDbXref UMLS:C2986703 semapv:UnspecifiedMatching +Orphanet:93461 Chromosomal disease with overgrowth oboInOwl:hasDbXref UMLS:C5681595 semapv:UnspecifiedMatching +Orphanet:93465 Lethal chondrodysplasia oboInOwl:hasDbXref UMLS:C5681594 semapv:UnspecifiedMatching +Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching +Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref UMLS:C0086795 semapv:UnspecifiedMatching +Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching +Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching +Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching +Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching +Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref MedDRA:10056916 semapv:UnspecifiedMatching +Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching +Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref UMLS:C0086431 semapv:UnspecifiedMatching +Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D82.2 semapv:UnspecifiedMatching +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref ICD10:D82.2 semapv:UnspecifiedMatching +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref MESH:C565984 semapv:UnspecifiedMatching +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref OMIM:200900 semapv:UnspecifiedMatching +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C1860168 semapv:UnspecifiedMatching +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency oboInOwl:hasDbXref icd11:4A01.10 semapv:UnspecifiedMatching +Orphanet:93545 Renal or urinary tract malformation oboInOwl:hasDbXref MESH:C566906 semapv:UnspecifiedMatching +Orphanet:93545 Renal or urinary tract malformation oboInOwl:hasDbXref UMLS:C1968949 semapv:UnspecifiedMatching +Orphanet:93546 Non-syndromic renal or urinary tract malformation oboInOwl:hasDbXref UMLS:C5681585 semapv:UnspecifiedMatching +Orphanet:93547 Syndromic renal or urinary tract malformation oboInOwl:hasDbXref UMLS:C5681584 semapv:UnspecifiedMatching +Orphanet:93548 Glomerular disease oboInOwl:hasDbXref UMLS:C0268731 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.0 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.1 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref ICD10:M32.9 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C1274834 semapv:UnspecifiedMatching +Orphanet:93552 Pediatric systemic lupus erythematosus oboInOwl:hasDbXref icd11:4A40.0Y semapv:UnspecifiedMatching +Orphanet:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching +Orphanet:93554 Mixed cryoglobulinemia type II oboInOwl:hasDbXref UMLS:C5680264 semapv:UnspecifiedMatching +Orphanet:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref ICD10:D89.1 semapv:UnspecifiedMatching +Orphanet:93555 Mixed cryoglobulinemia type III oboInOwl:hasDbXref UMLS:C5680263 semapv:UnspecifiedMatching +Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref UMLS:C1333947 semapv:UnspecifiedMatching +Orphanet:93556 Heavy chain deposition disease oboInOwl:hasDbXref icd11:2A83.50 semapv:UnspecifiedMatching +Orphanet:93557 Light and heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:93557 Light and heavy chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:93557 Light and heavy chain deposition disease oboInOwl:hasDbXref UMLS:C5204117 semapv:UnspecifiedMatching +Orphanet:93557 Light and heavy chain deposition disease oboInOwl:hasDbXref icd11:2A83.51 semapv:UnspecifiedMatching +Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref UMLS:C0238239 semapv:UnspecifiedMatching +Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref icd11:2A83.52 semapv:UnspecifiedMatching +Orphanet:93559 C3 deposition glomerulonephritis without proliferation oboInOwl:hasDbXref ICD10:NO3.5 semapv:UnspecifiedMatching +Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching +Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref UMLS:C5680269 semapv:UnspecifiedMatching +Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching +Orphanet:93561 ALys amyloidosis oboInOwl:hasDbXref UMLS:C5680270 semapv:UnspecifiedMatching +Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching +Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching +Orphanet:93562 AFib amyloidosis oboInOwl:hasDbXref UMLS:C5680267 semapv:UnspecifiedMatching +Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching +Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:UnspecifiedMatching +Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref MedDRA:10076673 semapv:UnspecifiedMatching +Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref UMLS:C3826988 semapv:UnspecifiedMatching +Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 semapv:UnspecifiedMatching +Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MESH:D011111 semapv:UnspecifiedMatching +Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MedDRA:10036099 semapv:UnspecifiedMatching +Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C0032533 semapv:UnspecifiedMatching +Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref icd11:FA22 semapv:UnspecifiedMatching +Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching +Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching +Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref UMLS:C0268743 semapv:UnspecifiedMatching +Orphanet:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MESH:D057049 semapv:UnspecifiedMatching +Orphanet:93573 Thrombotic microangiopathy oboInOwl:hasDbXref MedDRA:10043645 semapv:UnspecifiedMatching +Orphanet:93573 Thrombotic microangiopathy oboInOwl:hasDbXref UMLS:C2717961 semapv:UnspecifiedMatching +Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching +Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref OMIM:235400 semapv:UnspecifiedMatching +Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies oboInOwl:hasDbXref UMLS:C5680286 semapv:UnspecifiedMatching +Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching +Orphanet:93583 Congenital thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C1268935 semapv:UnspecifiedMatching +Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10:M31.1 semapv:UnspecifiedMatching +Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:C536901 semapv:UnspecifiedMatching +Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C2584778 semapv:UnspecifiedMatching +Orphanet:93587 Genetic cystic renal disease oboInOwl:hasDbXref UMLS:C5680285 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:604387 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:613159 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching +Orphanet:93589 Late-onset nephronophthisis oboInOwl:hasDbXref UMLS:C5681620 semapv:UnspecifiedMatching +Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching +Orphanet:93591 Infantile nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref MESH:C537699 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching +Orphanet:93592 Juvenile nephronophthisis oboInOwl:hasDbXref UMLS:C1855681 semapv:UnspecifiedMatching +Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease oboInOwl:hasDbXref UMLS:C5681622 semapv:UnspecifiedMatching +Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching +Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching +Orphanet:93598 Primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS:C0268164 semapv:UnspecifiedMatching +Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref MESH:C536415 semapv:UnspecifiedMatching +Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching +Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS:C0268165 semapv:UnspecifiedMatching +Orphanet:93599 Primary hyperoxaluria type 2 oboInOwl:hasDbXref icd11:5C51.2Y semapv:UnspecifiedMatching +Orphanet:936 Succinic acidemia oboInOwl:hasDbXref OMIM:600335 semapv:UnspecifiedMatching +Orphanet:936 Succinic acidemia oboInOwl:hasDbXref UMLS:C1838243 semapv:UnspecifiedMatching +Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching +Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref icd11:5C51.2Y semapv:UnspecifiedMatching +Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref MESH:C562584 semapv:UnspecifiedMatching +Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching +Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref UMLS:C0268118 semapv:UnspecifiedMatching +Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref icd11:5C55.00 semapv:UnspecifiedMatching +Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref MESH:C566358 semapv:UnspecifiedMatching +Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref OMIM:603592 semapv:UnspecifiedMatching +Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref UMLS:C1863688 semapv:UnspecifiedMatching +Orphanet:93602 Xanthinuria type II oboInOwl:hasDbXref icd11:5C55.00 semapv:UnspecifiedMatching +Orphanet:93603 Rare renal tubular disease oboInOwl:hasDbXref UMLS:C5681624 semapv:UnspecifiedMatching +Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching +Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref MESH:C537653 semapv:UnspecifiedMatching +Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching +Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref UMLS:C1846343 semapv:UnspecifiedMatching +Orphanet:93605 Bartter syndrome type 3 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref MESH:C564491 semapv:UnspecifiedMatching +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS:C1845202 semapv:UnspecifiedMatching +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref MESH:C567038 semapv:UnspecifiedMatching +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref OMIM:604278 semapv:UnspecifiedMatching +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref UMLS:C1970309 semapv:UnspecifiedMatching +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching +Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref OMIM:179800 semapv:UnspecifiedMatching +Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching +Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref OMIM:611590 semapv:UnspecifiedMatching +Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref UMLS:C5680287 semapv:UnspecifiedMatching +Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching +Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref UMLS:C0403554 semapv:UnspecifiedMatching +Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref MESH:C565652 semapv:UnspecifiedMatching +Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching +Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref UMLS:C1857388 semapv:UnspecifiedMatching +Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref icd11:5C60.2 semapv:UnspecifiedMatching +Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching +Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching +Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref UMLS:C1857389 semapv:UnspecifiedMatching +Orphanet:93613 Cystinuria type B oboInOwl:hasDbXref icd11:5C60.2 semapv:UnspecifiedMatching +Orphanet:93614 Hematological disorder with renal involvement oboInOwl:hasDbXref UMLS:C5681623 semapv:UnspecifiedMatching +Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref MedDRA:10063435 semapv:UnspecifiedMatching +Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref OMIM:613978 semapv:UnspecifiedMatching +Orphanet:93616 Hemoglobin H disease oboInOwl:hasDbXref UMLS:C3161174 semapv:UnspecifiedMatching +Orphanet:93618 Rare cause of hypertension oboInOwl:hasDbXref UMLS:C5681618 semapv:UnspecifiedMatching +Orphanet:93619 Rare renal tumor oboInOwl:hasDbXref UMLS:C5681619 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref MESH:C538212 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:300554 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:308990 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref OMIM:310468 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref UMLS:C1848336 semapv:UnspecifiedMatching +Orphanet:93622 Dent disease type 1 oboInOwl:hasDbXref icd11:GB90.42 semapv:UnspecifiedMatching +Orphanet:93623 Dent disease type 2 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93623 Dent disease type 2 oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:93623 Dent disease type 2 oboInOwl:hasDbXref MESH:C564487 semapv:UnspecifiedMatching +Orphanet:93623 Dent disease type 2 oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching +Orphanet:93623 Dent disease type 2 oboInOwl:hasDbXref UMLS:C1845167 semapv:UnspecifiedMatching +Orphanet:93623 Dent disease type 2 oboInOwl:hasDbXref icd11:GB90.42 semapv:UnspecifiedMatching +Orphanet:93626 Rare renal disease oboInOwl:hasDbXref UMLS:C5681617 semapv:UnspecifiedMatching +Orphanet:93665 Autoinflammatory syndrome oboInOwl:hasDbXref MedDRA:10072220 semapv:UnspecifiedMatching +Orphanet:93665 Autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C3890737 semapv:UnspecifiedMatching +Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching +Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref ICD10:M33.0 semapv:UnspecifiedMatching +Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref MedDRA:10008521 semapv:UnspecifiedMatching +Orphanet:93672 Juvenile dermatomyositis oboInOwl:hasDbXref UMLS:C0263666 semapv:UnspecifiedMatching +Orphanet:93685 Unicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:93685 Unicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:93890 Rare developmental defect during embryogenesis oboInOwl:hasDbXref UMLS:C5680284 semapv:UnspecifiedMatching +Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref MESH:C535312 semapv:UnspecifiedMatching +Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref OMIM:236795 semapv:UnspecifiedMatching +Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref UMLS:C0342737 semapv:UnspecifiedMatching +Orphanet:939 3-hydroxyisobutyric aciduria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref MESH:C536641 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:162091 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:162260 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref OMIM:615670 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref UMLS:C1335929 semapv:UnspecifiedMatching +Orphanet:93921 Full schwannomatosis oboInOwl:hasDbXref icd11:LD2D.1Y semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0431362 semapv:UnspecifiedMatching +Orphanet:93924 Lobar holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:301043 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref UMLS:C0431363 semapv:UnspecifiedMatching +Orphanet:93925 Alobar holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching +Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref ICD10:Q64.0 semapv:UnspecifiedMatching +Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref ICD10:Q64.0 semapv:UnspecifiedMatching +Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref MESH:D004842 semapv:UnspecifiedMatching +Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref MedDRA:10015088 semapv:UnspecifiedMatching +Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref UMLS:C5681612 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref MESH:C537748 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref MedDRA:10067424 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref UMLS:C1850321 semapv:UnspecifiedMatching +Orphanet:93929 Cloacal exstrophy oboInOwl:hasDbXref icd11:LB17.3 semapv:UnspecifiedMatching +Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching +Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref ICD10:Q64.1 semapv:UnspecifiedMatching +Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref MESH:D001746 semapv:UnspecifiedMatching +Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching +Orphanet:93930 Bladder exstrophy oboInOwl:hasDbXref UMLS:C0005689 semapv:UnspecifiedMatching +Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref MESH:C537923 semapv:UnspecifiedMatching +Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref OMIM:305450 semapv:UnspecifiedMatching +Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref UMLS:C5399762 semapv:UnspecifiedMatching +Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching +Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching +Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching +Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching +Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching +Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching +Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching +Orphanet:93944 X-linked intellectual disability, Fichera type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93944 X-linked intellectual disability, Fichera type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching +Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref UMLS:C5681616 semapv:UnspecifiedMatching +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome oboInOwl:hasDbXref UMLS:C5681615 semapv:UnspecifiedMatching +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type oboInOwl:hasDbXref UMLS:C5681614 semapv:UnspecifiedMatching +Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching +Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref UMLS:C5681613 semapv:UnspecifiedMatching +Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref MESH:C564516 semapv:UnspecifiedMatching +Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching +Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref UMLS:C1845543 semapv:UnspecifiedMatching +Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching +Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref MESH:C536909 semapv:UnspecifiedMatching +Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref OMIM:188455 semapv:UnspecifiedMatching +Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref UMLS:C3495590 semapv:UnspecifiedMatching +Orphanet:93953 Familial thyroglossal duct cyst oboInOwl:hasDbXref icd11:DA05.Y semapv:UnspecifiedMatching +Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref ICD10:G24.4 semapv:UnspecifiedMatching +Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref ICD10:G24.4 semapv:UnspecifiedMatching +Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref MedDRA:10067954 semapv:UnspecifiedMatching +Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref UMLS:C2242577 semapv:UnspecifiedMatching +Orphanet:93958 Oromandibular dystonia oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref MedDRA:10027138 semapv:UnspecifiedMatching +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref UMLS:C0025183 semapv:UnspecifiedMatching +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:93968 Meningocele oboInOwl:hasDbXref ICD10:Q05 semapv:UnspecifiedMatching +Orphanet:93968 Meningocele oboInOwl:hasDbXref MESH:D008588 semapv:UnspecifiedMatching +Orphanet:93968 Meningocele oboInOwl:hasDbXref MedDRA:10027266 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.1 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.2 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.3 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.4 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.4 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.5 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.5 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.6 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.6 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.7 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref UMLS:C0025312 semapv:UnspecifiedMatching +Orphanet:93970 Holmes-Gang syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93971 Chudley-Lowry-Hoar syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching +Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref MESH:C537457 semapv:UnspecifiedMatching +Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref UMLS:C0796003 semapv:UnspecifiedMatching +Orphanet:93973 Carpenter-Waziri syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref UMLS:C0796159 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.0 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.1 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref MedDRA:10002654 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref OMIM:600674 semapv:UnspecifiedMatching +Orphanet:93976 Anotia oboInOwl:hasDbXref UMLS:C0702139 semapv:UnspecifiedMatching +Orphanet:94 Astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching +Orphanet:94 Astrocytoma oboInOwl:hasDbXref MedDRA:10003571 semapv:UnspecifiedMatching +Orphanet:94 Astrocytoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching +Orphanet:94 Astrocytoma oboInOwl:hasDbXref UMLS:C0004114 semapv:UnspecifiedMatching +Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref UMLS:C0431799 semapv:UnspecifiedMatching +Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching +Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref ICD10:H40.5 semapv:UnspecifiedMatching +Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref ICD10:H40.5 semapv:UnspecifiedMatching +Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref MESH:D015355 semapv:UnspecifiedMatching +Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref MedDRA:10062891 semapv:UnspecifiedMatching +Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref UMLS:C0017609 semapv:UnspecifiedMatching +Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref ICD10:L29.8 semapv:UnspecifiedMatching +Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref ICD10:L29.8 semapv:UnspecifiedMatching +Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref MedDRA:10060875 semapv:UnspecifiedMatching +Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref UMLS:C1262019 semapv:UnspecifiedMatching +Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching +Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching +Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4305140 semapv:UnspecifiedMatching +Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref MESH:C567010 semapv:UnspecifiedMatching +Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref OMIM:611102 semapv:UnspecifiedMatching +Orphanet:94064 Deafness-infertility syndrome oboInOwl:hasDbXref UMLS:C1970187 semapv:UnspecifiedMatching +Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref MESH:C579849 semapv:UnspecifiedMatching +Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching +Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref UMLS:C3697269 semapv:UnspecifiedMatching +Orphanet:94065 15q24 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.F semapv:UnspecifiedMatching +Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia oboInOwl:hasDbXref UMLS:C4510007 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MESH:C535788 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MedDRA:10062920 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref OMIM:183900 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref UMLS:C2745959 semapv:UnspecifiedMatching +Orphanet:94068 Spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:94075 Severe immune-mediated enteropathy oboInOwl:hasDbXref MedDRA:10081456 semapv:UnspecifiedMatching +Orphanet:94075 Severe immune-mediated enteropathy oboInOwl:hasDbXref UMLS:C0341305 semapv:UnspecifiedMatching +Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref ICD10:D44.7 semapv:UnspecifiedMatching +Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref ICD10:D44.7 semapv:UnspecifiedMatching +Orphanet:94080 Non-functioning paraganglioma oboInOwl:hasDbXref UMLS:C4707263 semapv:UnspecifiedMatching +Orphanet:94083 Partington syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:94083 Partington syndrome oboInOwl:hasDbXref MESH:C536300 semapv:UnspecifiedMatching +Orphanet:94083 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching +Orphanet:94083 Partington syndrome oboInOwl:hasDbXref UMLS:C0796250 semapv:UnspecifiedMatching +Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching +Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref UMLS:C1853623 semapv:UnspecifiedMatching +Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching +Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref MESH:C536239 semapv:UnspecifiedMatching +Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref OMIM:211000 semapv:UnspecifiedMatching +Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref UMLS:C0268478 semapv:UnspecifiedMatching +Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref UMLS:C0406594 semapv:UnspecifiedMatching +Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:220150 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:242050 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:307830 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref OMIM:612076 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref UMLS:C5681580 semapv:UnspecifiedMatching +Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref icd11:GB90.4Y semapv:UnspecifiedMatching +Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref MESH:C548075 semapv:UnspecifiedMatching +Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref OMIM:603233 semapv:UnspecifiedMatching +Orphanet:94089 Pseudohypoparathyroidism type 1B oboInOwl:hasDbXref UMLS:C2932715 semapv:UnspecifiedMatching +Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref MESH:C548077 semapv:UnspecifiedMatching +Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref OMIM:203330 semapv:UnspecifiedMatching +Orphanet:94090 Pseudohypoparathyroidism type 2 oboInOwl:hasDbXref UMLS:C2932717 semapv:UnspecifiedMatching +Orphanet:94091 Mills syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:94091 Mills syndrome oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:94091 Mills syndrome oboInOwl:hasDbXref UMLS:C5191669 semapv:UnspecifiedMatching +Orphanet:94091 Mills syndrome oboInOwl:hasDbXref icd11:8B60.Y semapv:UnspecifiedMatching +Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10:G21.0 semapv:UnspecifiedMatching +Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MESH:D009459 semapv:UnspecifiedMatching +Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref MedDRA:10029282 semapv:UnspecifiedMatching +Orphanet:94093 Neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS:C0027849 semapv:UnspecifiedMatching +Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching +Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching +Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching +Orphanet:941 D-glyceric aciduria oboInOwl:hasDbXref UMLS:C0342765 semapv:UnspecifiedMatching +Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching +Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref OMIM:601238 semapv:UnspecifiedMatching +Orphanet:94122 Cerebellar ataxia, Cayman type oboInOwl:hasDbXref UMLS:C1832585 semapv:UnspecifiedMatching +Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.2 semapv:UnspecifiedMatching +Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref OMIM:607250 semapv:UnspecifiedMatching +Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 oboInOwl:hasDbXref UMLS:C4759870 semapv:UnspecifiedMatching +Orphanet:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref UMLS:C4760799 semapv:UnspecifiedMatching +Orphanet:94125 Recessive mitochondrial ataxia syndrome oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching +Orphanet:94145 Autosomal dominant cerebellar ataxia type I oboInOwl:hasDbXref UMLS:C5680259 semapv:UnspecifiedMatching +Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref OMIM:164500 semapv:UnspecifiedMatching +Orphanet:94147 Spinocerebellar ataxia type 7 oboInOwl:hasDbXref UMLS:C0752125 semapv:UnspecifiedMatching +Orphanet:94148 Autosomal dominant cerebellar ataxia type III oboInOwl:hasDbXref UMLS:C5680260 semapv:UnspecifiedMatching +Orphanet:94149 Autosomal dominant cerebellar ataxia type IV oboInOwl:hasDbXref UMLS:C5680261 semapv:UnspecifiedMatching +Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching +Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching +Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching +Orphanet:943 Malonic aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:943 Malonic aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:943 Malonic aciduria oboInOwl:hasDbXref MESH:C535702 semapv:UnspecifiedMatching +Orphanet:943 Malonic aciduria oboInOwl:hasDbXref OMIM:248360 semapv:UnspecifiedMatching +Orphanet:943 Malonic aciduria oboInOwl:hasDbXref UMLS:C0342793 semapv:UnspecifiedMatching +Orphanet:943 Malonic aciduria oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:945 Acalvaria oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:945 Acalvaria oboInOwl:hasDbXref MESH:C535570 semapv:UnspecifiedMatching +Orphanet:945 Acalvaria oboInOwl:hasDbXref UMLS:C2930936 semapv:UnspecifiedMatching +Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref MESH:C536892 semapv:UnspecifiedMatching +Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref OMIM:201050 semapv:UnspecifiedMatching +Orphanet:949 Acrocraniofacial dysostosis oboInOwl:hasDbXref UMLS:C1860145 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref MESH:D005621 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref MedDRA:10017374 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:229300 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref OMIM:601992 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref UMLS:C0016719 semapv:UnspecifiedMatching +Orphanet:95 Friedreich ataxia oboInOwl:hasDbXref icd11:8A03.10 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref MedDRA:10079856 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref OMIM:101800 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref OMIM:614613 semapv:UnspecifiedMatching +Orphanet:950 Acrodysostosis oboInOwl:hasDbXref UMLS:C0220659 semapv:UnspecifiedMatching +Orphanet:95157 Acute hepatic porphyria oboInOwl:hasDbXref MESH:C562618 semapv:UnspecifiedMatching +Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 semapv:UnspecifiedMatching +Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching +Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162569 semapv:UnspecifiedMatching +Orphanet:95161 Chronic hepatic porphyria oboInOwl:hasDbXref UMLS:C5681578 semapv:UnspecifiedMatching +Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching +Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching +Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref OMIM:193530 semapv:UnspecifiedMatching +Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref UMLS:C0457013 semapv:UnspecifiedMatching +Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref icd11:LD25.2 semapv:UnspecifiedMatching +Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching +Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref UMLS:C4749301 semapv:UnspecifiedMatching +Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching +Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching +Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref UMLS:C0151467 semapv:UnspecifiedMatching +Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref icd11:5A74.1 semapv:UnspecifiedMatching +Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref ICD10:K91.2 semapv:UnspecifiedMatching +Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref UMLS:C5681579 semapv:UnspecifiedMatching +Orphanet:95428 COG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:95428 COG8-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching +Orphanet:95428 COG8-CDG oboInOwl:hasDbXref MESH:C566987 semapv:UnspecifiedMatching +Orphanet:95428 COG8-CDG oboInOwl:hasDbXref OMIM:611182 semapv:UnspecifiedMatching +Orphanet:95428 COG8-CDG oboInOwl:hasDbXref UMLS:C1970021 semapv:UnspecifiedMatching +Orphanet:95428 COG8-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref ICD10:L81.7 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref ICD10:L81.7 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref UMLS:C0263637 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref icd11:LC50.Y semapv:UnspecifiedMatching +Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref ICD10:Q32.0 semapv:UnspecifiedMatching +Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref ICD10:Q32.0 semapv:UnspecifiedMatching +Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref MESH:C557675 semapv:UnspecifiedMatching +Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref MedDRA:10010654 semapv:UnspecifiedMatching +Orphanet:95430 Congenital tracheomalacia oboInOwl:hasDbXref UMLS:C0392109 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:O43.0 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:O43.0 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref ICD10:P02.3 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref MESH:D005330 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref MedDRA:10058328 semapv:UnspecifiedMatching +Orphanet:95431 Twin to twin transfusion syndrome oboInOwl:hasDbXref UMLS:C2909036 semapv:UnspecifiedMatching +Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref MESH:D018888 semapv:UnspecifiedMatching +Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref MedDRA:10081268 semapv:UnspecifiedMatching +Orphanet:95432 Primary progressive aphasia oboInOwl:hasDbXref UMLS:C0282513 semapv:UnspecifiedMatching +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref MESH:C537309 semapv:UnspecifiedMatching +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref OMIM:271250 semapv:UnspecifiedMatching +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref UMLS:C1849094 semapv:UnspecifiedMatching +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref MESH:C537310 semapv:UnspecifiedMatching +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref OMIM:607317 semapv:UnspecifiedMatching +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref UMLS:C1846492 semapv:UnspecifiedMatching +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:95443 Mesocardia oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:95443 Mesocardia oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:95443 Mesocardia oboInOwl:hasDbXref UMLS:C0265865 semapv:UnspecifiedMatching +Orphanet:95443 Mesocardia oboInOwl:hasDbXref icd11:LA80.2 semapv:UnspecifiedMatching +Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref ICD10:Q23.0 semapv:UnspecifiedMatching +Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref MedDRA:10066801 semapv:UnspecifiedMatching +Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref UMLS:C0265843 semapv:UnspecifiedMatching +Orphanet:95448 Congenital aortic valve atresia oboInOwl:hasDbXref icd11:LA8A.23 semapv:UnspecifiedMatching +Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref OMIM:608579 semapv:UnspecifiedMatching +Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref UMLS:C3658302 semapv:UnspecifiedMatching +Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum oboInOwl:hasDbXref icd11:EB13 semapv:UnspecifiedMatching +Orphanet:95457 Tricuspid valve agenesis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching +Orphanet:95457 Tricuspid valve agenesis oboInOwl:hasDbXref UMLS:C0685715 semapv:UnspecifiedMatching +Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref ICD10:Q22.4 semapv:UnspecifiedMatching +Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref MedDRA:10010656 semapv:UnspecifiedMatching +Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref UMLS:C0265836 semapv:UnspecifiedMatching +Orphanet:95459 Congenital tricuspid stenosis oboInOwl:hasDbXref icd11:LA87.01 semapv:UnspecifiedMatching +Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:95461 Straddling or overriding tricuspid valve oboInOwl:hasDbXref UMLS:C5681575 semapv:UnspecifiedMatching +Orphanet:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:95462 Accessory tricuspid valve tissue oboInOwl:hasDbXref UMLS:C5566613 semapv:UnspecifiedMatching +Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus oboInOwl:hasDbXref UMLS:C5681574 semapv:UnspecifiedMatching +Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis oboInOwl:hasDbXref UMLS:C5681577 semapv:UnspecifiedMatching +Orphanet:95465 Cleft mitral valve oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching +Orphanet:95465 Cleft mitral valve oboInOwl:hasDbXref UMLS:C0344772 semapv:UnspecifiedMatching +Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:95474 Double-orifice mitral valve oboInOwl:hasDbXref UMLS:C0344770 semapv:UnspecifiedMatching +Orphanet:95483 Univentricular cardiopathy oboInOwl:hasDbXref UMLS:C5681576 semapv:UnspecifiedMatching +Orphanet:95485 Arterial duct anomaly oboInOwl:hasDbXref UMLS:C5680258 semapv:UnspecifiedMatching +Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching +Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching +Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref UMLS:C3532264 semapv:UnspecifiedMatching +Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:95488 Non-acquired pituitary hormone deficiency oboInOwl:hasDbXref UMLS:C5681572 semapv:UnspecifiedMatching +Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref UMLS:C0340627 semapv:UnspecifiedMatching +Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref icd11:LA8C.Y semapv:UnspecifiedMatching +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref OMIM:613986 semapv:UnspecifiedMatching +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms oboInOwl:hasDbXref UMLS:C4273747 semapv:UnspecifiedMatching +Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency oboInOwl:hasDbXref UMLS:C5681573 semapv:UnspecifiedMatching +Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref MedDRA:10088621 semapv:UnspecifiedMatching +Orphanet:95496 Pituitary stalk interruption syndrome oboInOwl:hasDbXref UMLS:C4053775 semapv:UnspecifiedMatching +Orphanet:95498 Congenital anomaly of superior vena cava oboInOwl:hasDbXref UMLS:C0265928 semapv:UnspecifiedMatching +Orphanet:95498 Congenital anomaly of superior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:95499 Congenital anomaly of the inferior vena cava oboInOwl:hasDbXref UMLS:C0265932 semapv:UnspecifiedMatching +Orphanet:95499 Congenital anomaly of the inferior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D031845 semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102400 semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS:C0917715 semapv:UnspecifiedMatching +Orphanet:955 Hajdu-Cheney syndrome oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching +Orphanet:95500 Congenital anomaly of the coronary sinus oboInOwl:hasDbXref UMLS:C5681568 semapv:UnspecifiedMatching +Orphanet:95500 Congenital anomaly of the coronary sinus oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:95502 Acquired pituitary hormone deficiency oboInOwl:hasDbXref UMLS:C5681569 semapv:UnspecifiedMatching +Orphanet:95503 Pituitary hormone deficiency of tumoral origin oboInOwl:hasDbXref UMLS:C5681570 semapv:UnspecifiedMatching +Orphanet:95505 Pituitary hormone deficiency of meningeal origin oboInOwl:hasDbXref UMLS:C5681567 semapv:UnspecifiedMatching +Orphanet:95506 Primary hypophysitis oboInOwl:hasDbXref MESH:D000069281 semapv:UnspecifiedMatching +Orphanet:95506 Primary hypophysitis oboInOwl:hasDbXref UMLS:C0342410 semapv:UnspecifiedMatching +Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:95507 Congenital anomaly of hepatic vein oboInOwl:hasDbXref UMLS:C3163825 semapv:UnspecifiedMatching +Orphanet:95510 Atrial appendage anomaly oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:95510 Atrial appendage anomaly oboInOwl:hasDbXref UMLS:C5680257 semapv:UnspecifiedMatching +Orphanet:95512 Adenohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95512 Adenohypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95512 Adenohypophysitis oboInOwl:hasDbXref UMLS:C5190880 semapv:UnspecifiedMatching +Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref UMLS:C5190786 semapv:UnspecifiedMatching +Orphanet:956 Acropectororenal dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:956 Acropectororenal dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:95611 Pituitary hormone deficiency of vascular origin oboInOwl:hasDbXref UMLS:C5681571 semapv:UnspecifiedMatching +Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching +Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref MESH:D010899 semapv:UnspecifiedMatching +Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref MedDRA:10056447 semapv:UnspecifiedMatching +Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref UMLS:C0032001 semapv:UnspecifiedMatching +Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease oboInOwl:hasDbXref UMLS:C5681566 semapv:UnspecifiedMatching +Orphanet:95618 Pituitary hormone deficiency secondary to storage disease oboInOwl:hasDbXref UMLS:C5681565 semapv:UnspecifiedMatching +Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching +Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref UMLS:C0342400 semapv:UnspecifiedMatching +Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref UMLS:C5680256 semapv:UnspecifiedMatching +Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching +Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching +Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref icd11:5A71.01 semapv:UnspecifiedMatching +Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref MESH:C566319 semapv:UnspecifiedMatching +Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref OMIM:102510 semapv:UnspecifiedMatching +Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref UMLS:C1863307 semapv:UnspecifiedMatching +Orphanet:957 Acropectorovertebral dysplasia oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref OMIM:202150 semapv:UnspecifiedMatching +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone oboInOwl:hasDbXref UMLS:C5190711 semapv:UnspecifiedMatching +Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref ICD10:E27.1 semapv:UnspecifiedMatching +Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:202155 semapv:UnspecifiedMatching +Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:300200 semapv:UnspecifiedMatching +Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref UMLS:C0342482 semapv:UnspecifiedMatching +Orphanet:95702 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref icd11:LC80 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.2 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref ICD10:Q54.3 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:146450 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300633 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300758 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref OMIM:300856 semapv:UnspecifiedMatching +Orphanet:95706 Non-syndromic posterior hypospadias oboInOwl:hasDbXref UMLS:C5231010 semapv:UnspecifiedMatching +Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref ICD10:Q55.6 semapv:UnspecifiedMatching +Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref UMLS:C5681560 semapv:UnspecifiedMatching +Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref icd11:LB50 semapv:UnspecifiedMatching +Orphanet:95708 Rare precocious puberty oboInOwl:hasDbXref UMLS:C5681561 semapv:UnspecifiedMatching +Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching +Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C4303540 semapv:UnspecifiedMatching +Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C5681564 semapv:UnspecifiedMatching +Orphanet:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref UMLS:C5680255 semapv:UnspecifiedMatching +Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching +Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching +Orphanet:95712 Thyroid ectopia oboInOwl:hasDbXref UMLS:C5681563 semapv:UnspecifiedMatching +Orphanet:95713 Athyreosis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95713 Athyreosis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95713 Athyreosis oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching +Orphanet:95713 Athyreosis oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching +Orphanet:95713 Athyreosis oboInOwl:hasDbXref UMLS:C4305275 semapv:UnspecifiedMatching +Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly oboInOwl:hasDbXref UMLS:C5681562 semapv:UnspecifiedMatching +Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref ICD10:P72.2 semapv:UnspecifiedMatching +Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies oboInOwl:hasDbXref UMLS:C4273914 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.0 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.0 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274400 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274500 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274700 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274800 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:274900 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching +Orphanet:95716 Familial thyroid dyshormonogenesis oboInOwl:hasDbXref UMLS:C4273748 semapv:UnspecifiedMatching +Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref UMLS:C4273913 semapv:UnspecifiedMatching +Orphanet:95717 Idiopathic congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.0Y semapv:UnspecifiedMatching +Orphanet:95718 Congenital thyroid malformation without hypothyroidism oboInOwl:hasDbXref UMLS:C5681582 semapv:UnspecifiedMatching +Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref MedDRA:10077609 semapv:UnspecifiedMatching +Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching +Orphanet:95719 Thyroid hemiagenesis oboInOwl:hasDbXref UMLS:C4023190 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref MedDRA:10065938 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching +Orphanet:95720 Thyroid hypoplasia oboInOwl:hasDbXref UMLS:C0151516 semapv:UnspecifiedMatching +Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref MESH:C535665 semapv:UnspecifiedMatching +Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref OMIM:200980 semapv:UnspecifiedMatching +Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref UMLS:C1860166 semapv:UnspecifiedMatching +Orphanet:958 Acro-renal-mandibular syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:95854 Levocardia oboInOwl:hasDbXref ICD10:Q24.1 semapv:UnspecifiedMatching +Orphanet:95854 Levocardia oboInOwl:hasDbXref MESH:D007979 semapv:UnspecifiedMatching +Orphanet:95854 Levocardia oboInOwl:hasDbXref MedDRA:10071015 semapv:UnspecifiedMatching +Orphanet:95854 Levocardia oboInOwl:hasDbXref UMLS:C0023569 semapv:UnspecifiedMatching +Orphanet:95854 Levocardia oboInOwl:hasDbXref icd11:LA80.0 semapv:UnspecifiedMatching +Orphanet:959 Acro-renal-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:959 Acro-renal-ocular syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:959 Acro-renal-ocular syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MESH:C535393 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref MedDRA:10047631 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref OMIM:277460 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref UMLS:C1848533 semapv:UnspecifiedMatching +Orphanet:96 Ataxia with vitamin E deficiency oboInOwl:hasDbXref icd11:8A03.10 semapv:UnspecifiedMatching +Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96055 Tetrasomy 21 oboInOwl:hasDbXref UMLS:C4707057 semapv:UnspecifiedMatching +Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref UMLS:C4272018 semapv:UnspecifiedMatching +Orphanet:96059 Mosaic trisomy 4 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching +Orphanet:96060 Mosaic trisomy 5 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96060 Mosaic trisomy 5 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96060 Mosaic trisomy 5 oboInOwl:hasDbXref UMLS:C2931603 semapv:UnspecifiedMatching +Orphanet:96060 Mosaic trisomy 5 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching +Orphanet:96061 Mosaic trisomy 8 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96061 Mosaic trisomy 8 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96061 Mosaic trisomy 8 oboInOwl:hasDbXref MESH:C537940 semapv:UnspecifiedMatching +Orphanet:96061 Mosaic trisomy 8 oboInOwl:hasDbXref MedDRA:10053916 semapv:UnspecifiedMatching +Orphanet:96061 Mosaic trisomy 8 oboInOwl:hasDbXref UMLS:C1096527 semapv:UnspecifiedMatching +Orphanet:96061 Mosaic trisomy 8 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching +Orphanet:96063 Mosaic trisomy 10 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96063 Mosaic trisomy 10 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96063 Mosaic trisomy 10 oboInOwl:hasDbXref UMLS:C2931794 semapv:UnspecifiedMatching +Orphanet:96063 Mosaic trisomy 10 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching +Orphanet:96068 Mosaic trisomy 22 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96068 Mosaic trisomy 22 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:96068 Mosaic trisomy 22 oboInOwl:hasDbXref MESH:C536796 semapv:UnspecifiedMatching +Orphanet:96068 Mosaic trisomy 22 oboInOwl:hasDbXref UMLS:C2931327 semapv:UnspecifiedMatching +Orphanet:96068 Mosaic trisomy 22 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching +Orphanet:96069 Distal duplication 1p36 oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96069 Distal duplication 1p36 oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96069 Distal duplication 1p36 oboInOwl:hasDbXref UMLS:C4707665 semapv:UnspecifiedMatching +Orphanet:96069 Distal duplication 1p36 oboInOwl:hasDbXref icd11:LD41.01 semapv:UnspecifiedMatching +Orphanet:96070 Distal duplication 2p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96070 Distal duplication 2p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96070 Distal duplication 2p oboInOwl:hasDbXref UMLS:C4706937 semapv:UnspecifiedMatching +Orphanet:96070 Distal duplication 2p oboInOwl:hasDbXref icd11:LD41.11 semapv:UnspecifiedMatching +Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96071 Distal duplication 3p oboInOwl:hasDbXref UMLS:C4706938 semapv:UnspecifiedMatching +Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96072 4p16.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C4512053 semapv:UnspecifiedMatching +Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96074 Distal duplication 7p oboInOwl:hasDbXref UMLS:C4706364 semapv:UnspecifiedMatching +Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication oboInOwl:hasDbXref UMLS:C5681581 semapv:UnspecifiedMatching +Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref OMIM:613458 semapv:UnspecifiedMatching +Orphanet:96078 16p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C4518796 semapv:UnspecifiedMatching +Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96092 8p inverted duplication/deletion syndrome oboInOwl:hasDbXref UMLS:C4273676 semapv:UnspecifiedMatching +Orphanet:96094 Distal duplication 2q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96094 Distal duplication 2q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96094 Distal duplication 2q oboInOwl:hasDbXref UMLS:C4706361 semapv:UnspecifiedMatching +Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96095 3q26 microduplication syndrome oboInOwl:hasDbXref UMLS:C4755319 semapv:UnspecifiedMatching +Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96096 Distal duplication 4q oboInOwl:hasDbXref UMLS:C4706362 semapv:UnspecifiedMatching +Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96097 Distal duplication 5q oboInOwl:hasDbXref UMLS:C4706363 semapv:UnspecifiedMatching +Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref MESH:C537810 semapv:UnspecifiedMatching +Orphanet:96098 Distal duplication 6q oboInOwl:hasDbXref UMLS:C0795817 semapv:UnspecifiedMatching +Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96100 Distal duplication 8q oboInOwl:hasDbXref UMLS:C4706365 semapv:UnspecifiedMatching +Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref UMLS:C4706939 semapv:UnspecifiedMatching +Orphanet:96101 Distal duplication 9q oboInOwl:hasDbXref icd11:LD41.80 semapv:UnspecifiedMatching +Orphanet:96102 Distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96102 Distal duplication 10q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96102 Distal duplication 10q oboInOwl:hasDbXref MESH:C538087 semapv:UnspecifiedMatching +Orphanet:96102 Distal duplication 10q oboInOwl:hasDbXref UMLS:C2931728 semapv:UnspecifiedMatching +Orphanet:96102 Distal duplication 10q oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching +Orphanet:96103 Distal duplication 11q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96103 Distal duplication 11q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96103 Distal duplication 11q oboInOwl:hasDbXref MESH:C538294 semapv:UnspecifiedMatching +Orphanet:96103 Distal duplication 11q oboInOwl:hasDbXref UMLS:C2931797 semapv:UnspecifiedMatching +Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96105 Distal duplication 13q oboInOwl:hasDbXref UMLS:C4706933 semapv:UnspecifiedMatching +Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96106 Distal duplication 16q oboInOwl:hasDbXref UMLS:C4706934 semapv:UnspecifiedMatching +Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref UMLS:C4706935 semapv:UnspecifiedMatching +Orphanet:96107 Distal duplication 20q oboInOwl:hasDbXref icd11:LD41.K0 semapv:UnspecifiedMatching +Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96109 Distal duplication 22q oboInOwl:hasDbXref UMLS:C4706936 semapv:UnspecifiedMatching +Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref UMLS:C4707261 semapv:UnspecifiedMatching +Orphanet:96112 Non-distal duplication 9q oboInOwl:hasDbXref icd11:LD41.80 semapv:UnspecifiedMatching +Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref OMIM:609757 semapv:UnspecifiedMatching +Orphanet:96121 7q11.23 microduplication syndrome oboInOwl:hasDbXref UMLS:C4512054 semapv:UnspecifiedMatching +Orphanet:96123 Monosomy 22 oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching +Orphanet:96123 Monosomy 22 oboInOwl:hasDbXref ICD10:Q93.0 semapv:UnspecifiedMatching +Orphanet:96123 Monosomy 22 oboInOwl:hasDbXref UMLS:C0795878 semapv:UnspecifiedMatching +Orphanet:96125 Distal deletion 6p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96125 Distal deletion 6p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96125 Distal deletion 6p oboInOwl:hasDbXref OMIM:612582 semapv:UnspecifiedMatching +Orphanet:96125 Distal deletion 6p oboInOwl:hasDbXref UMLS:C4305276 semapv:UnspecifiedMatching +Orphanet:96125 Distal deletion 6p oboInOwl:hasDbXref icd11:LD44.61 semapv:UnspecifiedMatching +Orphanet:96126 Distal deletion 7p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96126 Distal deletion 7p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96126 Distal deletion 7p oboInOwl:hasDbXref UMLS:C5190515 semapv:UnspecifiedMatching +Orphanet:96126 Distal deletion 7p oboInOwl:hasDbXref icd11:LD44.71 semapv:UnspecifiedMatching +Orphanet:96129 Distal deletion 19p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96129 Distal deletion 19p oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96129 Distal deletion 19p oboInOwl:hasDbXref UMLS:C4749277 semapv:UnspecifiedMatching +Orphanet:96129 Distal deletion 19p oboInOwl:hasDbXref icd11:LD44.K1 semapv:UnspecifiedMatching +Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96145 Distal deletion 4q oboInOwl:hasDbXref UMLS:C5190514 semapv:UnspecifiedMatching +Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching +Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref UMLS:C0795833 semapv:UnspecifiedMatching +Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref OMIM:609625 semapv:UnspecifiedMatching +Orphanet:96148 Distal deletion 10q oboInOwl:hasDbXref UMLS:C4305277 semapv:UnspecifiedMatching +Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96149 Distal deletion 12q oboInOwl:hasDbXref UMLS:C5680262 semapv:UnspecifiedMatching +Orphanet:96150 Distal deletion 14q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96150 Distal deletion 14q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96150 Distal deletion 14q oboInOwl:hasDbXref UMLS:C4749276 semapv:UnspecifiedMatching +Orphanet:96160 Non-distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96160 Non-distal deletion 12q oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96160 Non-distal deletion 12q oboInOwl:hasDbXref UMLS:C5190525 semapv:UnspecifiedMatching +Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref MESH:C535296 semapv:UnspecifiedMatching +Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref OMIM:179613 semapv:UnspecifiedMatching +Orphanet:96167 Recombinant 8 syndrome oboInOwl:hasDbXref UMLS:C0795822 semapv:UnspecifiedMatching +Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref OMIM:619148 semapv:UnspecifiedMatching +Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref UMLS:C4707797 semapv:UnspecifiedMatching +Orphanet:96168 Monosomy 13q34 oboInOwl:hasDbXref icd11:LD44.D semapv:UnspecifiedMatching +Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:96169 Koolen-De Vries syndrome oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref ICD10:Q92.6 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref ICD10:Q92.6 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref MESH:C535733 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref MedDRA:10079203 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref OMIM:609029 semapv:UnspecifiedMatching +Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref UMLS:C1836929 semapv:UnspecifiedMatching +Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref UMLS:C4707448 semapv:UnspecifiedMatching +Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref UMLS:C4707449 semapv:UnspecifiedMatching +Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref MESH:C538022 semapv:UnspecifiedMatching +Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref UMLS:C0265430 semapv:UnspecifiedMatching +Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref UMLS:C0265444 semapv:UnspecifiedMatching +Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref MESH:C538303 semapv:UnspecifiedMatching +Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref UMLS:C0795847 semapv:UnspecifiedMatching +Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref MESH:C538035 semapv:UnspecifiedMatching +Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref UMLS:C0795855 semapv:UnspecifiedMatching +Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching +Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref UMLS:C4706449 semapv:UnspecifiedMatching +Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref UMLS:C4707718 semapv:UnspecifiedMatching +Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96180 Maternal uniparental disomy of chromosome 4 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96180 Maternal uniparental disomy of chromosome 4 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96180 Maternal uniparental disomy of chromosome 4 oboInOwl:hasDbXref UMLS:C4707719 semapv:UnspecifiedMatching +Orphanet:96180 Maternal uniparental disomy of chromosome 4 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref UMLS:C4707720 semapv:UnspecifiedMatching +Orphanet:96181 Maternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref UMLS:C5680247 semapv:UnspecifiedMatching +Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:96183 Maternal uniparental disomy of chromosome 9 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96183 Maternal uniparental disomy of chromosome 9 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96183 Maternal uniparental disomy of chromosome 9 oboInOwl:hasDbXref UMLS:C4707721 semapv:UnspecifiedMatching +Orphanet:96183 Maternal uniparental disomy of chromosome 9 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching +Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref UMLS:C5680248 semapv:UnspecifiedMatching +Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching +Orphanet:96185 Maternal uniparental disomy of chromosome 16 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96185 Maternal uniparental disomy of chromosome 16 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96185 Maternal uniparental disomy of chromosome 16 oboInOwl:hasDbXref UMLS:C4750769 semapv:UnspecifiedMatching +Orphanet:96185 Maternal uniparental disomy of chromosome 16 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref OMIM:617352 semapv:UnspecifiedMatching +Orphanet:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref UMLS:C4275029 semapv:UnspecifiedMatching +Orphanet:96186 Maternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96187 Maternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96187 Maternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96187 Maternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref UMLS:C5190523 semapv:UnspecifiedMatching +Orphanet:96187 Maternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96188 Maternal uniparental disomy of chromosome 22 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96188 Maternal uniparental disomy of chromosome 22 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96188 Maternal uniparental disomy of chromosome 22 oboInOwl:hasDbXref UMLS:C5190524 semapv:UnspecifiedMatching +Orphanet:96188 Maternal uniparental disomy of chromosome 22 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:96190 Paternal uniparental disomy of chromosome 5 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96190 Paternal uniparental disomy of chromosome 5 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96190 Paternal uniparental disomy of chromosome 5 oboInOwl:hasDbXref UMLS:C4749377 semapv:UnspecifiedMatching +Orphanet:96190 Paternal uniparental disomy of chromosome 5 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:96191 Paternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96191 Paternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96191 Paternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref UMLS:C4749378 semapv:UnspecifiedMatching +Orphanet:96191 Paternal uniparental disomy of chromosome 6 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref UMLS:C4707802 semapv:UnspecifiedMatching +Orphanet:96192 Paternal uniparental disomy of chromosome 7 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oboInOwl:hasDbXref UMLS:C5680249 semapv:UnspecifiedMatching +Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref UMLS:C4275028 semapv:UnspecifiedMatching +Orphanet:96194 Paternal uniparental disomy of chromosome 20 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:96195 Paternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96195 Paternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96195 Paternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref UMLS:C4707801 semapv:UnspecifiedMatching +Orphanet:96195 Paternal uniparental disomy of chromosome 21 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:96201 X small rings oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96201 X small rings oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96201 X small rings oboInOwl:hasDbXref UMLS:C4707824 semapv:UnspecifiedMatching +Orphanet:96210 Rare genetic deafness oboInOwl:hasDbXref UMLS:C5680250 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref MESH:D047748 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref MedDRA:10035109 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref OMIM:219090 semapv:UnspecifiedMatching +Orphanet:96253 Cushing disease oboInOwl:hasDbXref UMLS:C0221406 semapv:UnspecifiedMatching +Orphanet:96256 Somatotropic adenoma oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching +Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching +Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref MedDRA:10048228 semapv:UnspecifiedMatching +Orphanet:96263 48,XXXY syndrome oboInOwl:hasDbXref UMLS:C0265498 semapv:UnspecifiedMatching +Orphanet:96264 49,XXXXY syndrome oboInOwl:hasDbXref ICD10:Q98.1 semapv:UnspecifiedMatching +Orphanet:96264 49,XXXXY syndrome oboInOwl:hasDbXref UMLS:C0265499 semapv:UnspecifiedMatching +Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching +Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref ICD10:Q56.1 semapv:UnspecifiedMatching +Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching +Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance oboInOwl:hasDbXref icd11:LD2A.3 semapv:UnspecifiedMatching +Orphanet:96269 Isolated partial vaginal agenesis oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching +Orphanet:96269 Isolated partial vaginal agenesis oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref MESH:D000172 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref MedDRA:10000599 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref OMIM:300943 semapv:UnspecifiedMatching +Orphanet:963 Acromegaly oboInOwl:hasDbXref UMLS:C0001206 semapv:UnspecifiedMatching +Orphanet:96321 Polyploidy oboInOwl:hasDbXref ICD10:Q92.7 semapv:UnspecifiedMatching +Orphanet:96321 Polyploidy oboInOwl:hasDbXref MESH:D011123 semapv:UnspecifiedMatching +Orphanet:96321 Polyploidy oboInOwl:hasDbXref UMLS:C0032578 semapv:UnspecifiedMatching +Orphanet:96325 Isochromosome Y oboInOwl:hasDbXref UMLS:C5681538 semapv:UnspecifiedMatching +Orphanet:96333 Rare otorhinolaryngological malformation oboInOwl:hasDbXref UMLS:C5681539 semapv:UnspecifiedMatching +Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching +Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref UMLS:C5680251 semapv:UnspecifiedMatching +Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching +Orphanet:96344 Rare gynecologic or obstetric disease oboInOwl:hasDbXref UMLS:C5681537 semapv:UnspecifiedMatching +Orphanet:96346 Anorectal malformation oboInOwl:hasDbXref MESH:D000071056 semapv:UnspecifiedMatching +Orphanet:96346 Anorectal malformation oboInOwl:hasDbXref MedDRA:10082798 semapv:UnspecifiedMatching +Orphanet:96346 Anorectal malformation oboInOwl:hasDbXref UMLS:C3495676 semapv:UnspecifiedMatching +Orphanet:96346 Anorectal malformation oboInOwl:hasDbXref icd11:LB17.0 semapv:UnspecifiedMatching +Orphanet:964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome oboInOwl:hasDbXref OMIM:102100 semapv:UnspecifiedMatching +Orphanet:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref MESH:C535655 semapv:UnspecifiedMatching +Orphanet:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref OMIM:102150 semapv:UnspecifiedMatching +Orphanet:965 Acromegaloid facial appearance syndrome oboInOwl:hasDbXref UMLS:C0796280 semapv:UnspecifiedMatching +Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref OMIM:201250 semapv:UnspecifiedMatching +Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref UMLS:C2930970 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref MESH:C535662 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref MedDRA:10083854 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref OMIM:102370 semapv:UnspecifiedMatching +Orphanet:969 Acromicric dysplasia oboInOwl:hasDbXref UMLS:C0265287 semapv:UnspecifiedMatching +Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref OMIM:108500 semapv:UnspecifiedMatching +Orphanet:97 Familial paroxysmal ataxia oboInOwl:hasDbXref UMLS:C1720416 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:201300 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:243000 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:613115 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref OMIM:614213 semapv:UnspecifiedMatching +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref UMLS:C0020072 semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref MESH:C563159 semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref OMIM:102520 semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref OMIM:201310 semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref UMLS:C3495490 semapv:UnspecifiedMatching +Orphanet:971 Acrorenal syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:108120 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref OMIM:620019 semapv:UnspecifiedMatching +Orphanet:97120 Distal arthrogryposis oboInOwl:hasDbXref UMLS:C0265213 semapv:UnspecifiedMatching +Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref MESH:C563545 semapv:UnspecifiedMatching +Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching +Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref UMLS:C1834559 semapv:UnspecifiedMatching +Orphanet:972 Hereditary continuous muscle fiber activity oboInOwl:hasDbXref icd11:8C7Y semapv:UnspecifiedMatching +Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref ICD10:I27.2 semapv:UnspecifiedMatching +Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref ICD10:I27.2 semapv:UnspecifiedMatching +Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref MedDRA:10058554 semapv:UnspecifiedMatching +Orphanet:97214 Eisenmenger syndrome oboInOwl:hasDbXref UMLS:C0013743 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref MESH:C537111 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref MedDRA:10084089 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211500 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching +Orphanet:97229 Riboflavin transporter deficiency oboInOwl:hasDbXref UMLS:C4551777 semapv:UnspecifiedMatching +Orphanet:97230 Solar urticaria oboInOwl:hasDbXref ICD10:L56.3 semapv:UnspecifiedMatching +Orphanet:97230 Solar urticaria oboInOwl:hasDbXref ICD10:L56.3 semapv:UnspecifiedMatching +Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MESH:D000092130 semapv:UnspecifiedMatching +Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MedDRA:10041307 semapv:UnspecifiedMatching +Orphanet:97230 Solar urticaria oboInOwl:hasDbXref UMLS:C0263610 semapv:UnspecifiedMatching +Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching +Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching +Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref MedDRA:10071570 semapv:UnspecifiedMatching +Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref UMLS:C1274789 semapv:UnspecifiedMatching +Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref MESH:C564425 semapv:UnspecifiedMatching +Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref OMIM:305550 semapv:UnspecifiedMatching +Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref UMLS:C1844560 semapv:UnspecifiedMatching +Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:261670 semapv:UnspecifiedMatching +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C0268149 semapv:UnspecifiedMatching +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref MedDRA:10069417 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:600332 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref UMLS:C1853698 semapv:UnspecifiedMatching +Orphanet:97238 Rippling muscle disease oboInOwl:hasDbXref icd11:8C71.Y semapv:UnspecifiedMatching +Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300717 semapv:UnspecifiedMatching +Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref OMIM:300718 semapv:UnspecifiedMatching +Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref UMLS:C0270970 semapv:UnspecifiedMatching +Orphanet:97239 Reducing body myopathy oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching +Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref UMLS:C0270969 semapv:UnspecifiedMatching +Orphanet:97240 Zebra body myopathy oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:97242 Congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C0699743 semapv:UnspecifiedMatching +Orphanet:97242 Congenital muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref MESH:C535683 semapv:UnspecifiedMatching +Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching +Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref UMLS:C0410180 semapv:UnspecifiedMatching +Orphanet:97244 Rigid spine syndrome oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref MedDRA:10062547 semapv:UnspecifiedMatching +Orphanet:97245 Congenital myopathy oboInOwl:hasDbXref UMLS:C0270960 semapv:UnspecifiedMatching +Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref MESH:C548072 semapv:UnspecifiedMatching +Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref OMIM:608027 semapv:UnspecifiedMatching +Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref UMLS:C1842687 semapv:UnspecifiedMatching +Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref UMLS:C3164501 semapv:UnspecifiedMatching +Orphanet:97253 Neuroendocrine tumor of pancreas oboInOwl:hasDbXref UMLS:C4305467 semapv:UnspecifiedMatching +Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching +Orphanet:97261 GRFoma oboInOwl:hasDbXref UMLS:C5680245 semapv:UnspecifiedMatching +Orphanet:97275 Encephalitis oboInOwl:hasDbXref MESH:D004660 semapv:UnspecifiedMatching +Orphanet:97275 Encephalitis oboInOwl:hasDbXref MedDRA:10014581 semapv:UnspecifiedMatching +Orphanet:97275 Encephalitis oboInOwl:hasDbXref UMLS:C0014038 semapv:UnspecifiedMatching +Orphanet:97278 PPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching +Orphanet:97278 PPoma oboInOwl:hasDbXref UMLS:C0346407 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:C25.4 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:C25.4 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D13.7 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D13.7 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D37.7 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref ICD10:D37.7 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref MESH:D007340 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref MedDRA:10022498 semapv:UnspecifiedMatching +Orphanet:97279 Insulinoma oboInOwl:hasDbXref UMLS:C0021670 semapv:UnspecifiedMatching +Orphanet:97280 Glucagonoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching +Orphanet:97280 Glucagonoma oboInOwl:hasDbXref MESH:D005935 semapv:UnspecifiedMatching +Orphanet:97280 Glucagonoma oboInOwl:hasDbXref MedDRA:10018404 semapv:UnspecifiedMatching +Orphanet:97280 Glucagonoma oboInOwl:hasDbXref UMLS:C0017689 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref MedDRA:10047430 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref UMLS:C0011993 semapv:UnspecifiedMatching +Orphanet:97282 VIPoma oboInOwl:hasDbXref icd11:XH72E5 semapv:UnspecifiedMatching +Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref ICD10:E16.8 semapv:UnspecifiedMatching +Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref MESH:D013005 semapv:UnspecifiedMatching +Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref MedDRA:10041329 semapv:UnspecifiedMatching +Orphanet:97283 Somatostatinoma oboInOwl:hasDbXref UMLS:C0037661 semapv:UnspecifiedMatching +Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching +Orphanet:97285 Thyroid lymphoma oboInOwl:hasDbXref UMLS:C1336753 semapv:UnspecifiedMatching +Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref MESH:C564650 semapv:UnspecifiedMatching +Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref OMIM:606864 semapv:UnspecifiedMatching +Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref UMLS:C1847319 semapv:UnspecifiedMatching +Orphanet:97286 Carney-Stratakis syndrome oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref ICD10:D38.1 semapv:UnspecifiedMatching +Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref ICD10:D38.1 semapv:UnspecifiedMatching +Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1334452 semapv:UnspecifiedMatching +Orphanet:97287 Bronchial neuroendocrine tumor oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:97289 Thymic neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5681534 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref OMIM:605642 semapv:UnspecifiedMatching +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia oboInOwl:hasDbXref UMLS:C5680246 semapv:UnspecifiedMatching +Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref ICD10:R57.0 semapv:UnspecifiedMatching +Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref MESH:D012770 semapv:UnspecifiedMatching +Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref MedDRA:10007625 semapv:UnspecifiedMatching +Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref UMLS:C0036980 semapv:UnspecifiedMatching +Orphanet:97293 Rare benign ovarian tumor oboInOwl:hasDbXref UMLS:C5681535 semapv:UnspecifiedMatching +Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref MESH:C538192 semapv:UnspecifiedMatching +Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching +Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref UMLS:C2931764 semapv:UnspecifiedMatching +Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref MESH:C537419 semapv:UnspecifiedMatching +Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref OMIM:605039 semapv:UnspecifiedMatching +Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref UMLS:C0796232 semapv:UnspecifiedMatching +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref MESH:C562417 semapv:UnspecifiedMatching +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref OMIM:102650 semapv:UnspecifiedMatching +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching +Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching +Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching +Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MedDRA:10048627 semapv:UnspecifiedMatching +Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0039984 semapv:UnspecifiedMatching +Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref icd11:8B91.Y semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M92.2 semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M92.2 semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M93.1 semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref ICD10:M93.1 semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref MedDRA:10064242 semapv:UnspecifiedMatching +Orphanet:97332 Kienbock disease oboInOwl:hasDbXref UMLS:C0022682 semapv:UnspecifiedMatching +Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching +Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref MedDRA:10031130 semapv:UnspecifiedMatching +Orphanet:97335 Osgood-Schlatter disease oboInOwl:hasDbXref UMLS:C0029376 semapv:UnspecifiedMatching +Orphanet:97336 Panner disease oboInOwl:hasDbXref ICD10:M92.0 semapv:UnspecifiedMatching +Orphanet:97336 Panner disease oboInOwl:hasDbXref UMLS:C4759831 semapv:UnspecifiedMatching +Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref ICD10:M92.4 semapv:UnspecifiedMatching +Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref ICD10:M92.4 semapv:UnspecifiedMatching +Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref MedDRA:10063585 semapv:UnspecifiedMatching +Orphanet:97337 Sinding-Larsen-Johansson disease oboInOwl:hasDbXref UMLS:C1504517 semapv:UnspecifiedMatching +Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching +Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching +Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching +Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching +Orphanet:97338 Melanoma of soft tissue oboInOwl:hasDbXref UMLS:C0206651 semapv:UnspecifiedMatching +Orphanet:97339 Dural sinus malformation oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching +Orphanet:97339 Dural sinus malformation oboInOwl:hasDbXref ICD10:Q28.3 semapv:UnspecifiedMatching +Orphanet:97339 Dural sinus malformation oboInOwl:hasDbXref UMLS:C3839148 semapv:UnspecifiedMatching +Orphanet:97339 Dural sinus malformation oboInOwl:hasDbXref icd11:LA90.2Y semapv:UnspecifiedMatching +Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref MESH:C536072 semapv:UnspecifiedMatching +Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref OMIM:601379 semapv:UnspecifiedMatching +Orphanet:97340 Hunter-McAlpine syndrome oboInOwl:hasDbXref UMLS:C1832408 semapv:UnspecifiedMatching +Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching +Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref UMLS:C4304823 semapv:UnspecifiedMatching +Orphanet:97341 Persistent placoid maculopathy oboInOwl:hasDbXref icd11:9B78.3Y semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref MESH:C538208 semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching +Orphanet:97345 ABri amyloidosis oboInOwl:hasDbXref UMLS:C5190835 semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref MESH:C538209 semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching +Orphanet:97346 ADan amyloidosis oboInOwl:hasDbXref UMLS:C1861735 semapv:UnspecifiedMatching +Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref ICD10:G21.3 semapv:UnspecifiedMatching +Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref ICD10:G21.3 semapv:UnspecifiedMatching +Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref MESH:D010301 semapv:UnspecifiedMatching +Orphanet:97349 Postencephalitic parkinsonism oboInOwl:hasDbXref UMLS:C0030568 semapv:UnspecifiedMatching +Orphanet:97352 Pellagra oboInOwl:hasDbXref ICD10:E52 semapv:UnspecifiedMatching +Orphanet:97352 Pellagra oboInOwl:hasDbXref ICD10:E52 semapv:UnspecifiedMatching +Orphanet:97352 Pellagra oboInOwl:hasDbXref MESH:D010383 semapv:UnspecifiedMatching +Orphanet:97352 Pellagra oboInOwl:hasDbXref MedDRA:10029400 semapv:UnspecifiedMatching +Orphanet:97352 Pellagra oboInOwl:hasDbXref UMLS:C0030783 semapv:UnspecifiedMatching +Orphanet:97352 Pellagra oboInOwl:hasDbXref icd11:5B5C.0 semapv:UnspecifiedMatching +Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref ICD10:F01.8 semapv:UnspecifiedMatching +Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref ICD10:F01.8 semapv:UnspecifiedMatching +Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref MedDRA:10087801 semapv:UnspecifiedMatching +Orphanet:97353 Dementia pugilistica oboInOwl:hasDbXref UMLS:C0149843 semapv:UnspecifiedMatching +Orphanet:97354 NON RARE IN EUROPE: Wernicke encephalopathy oboInOwl:hasDbXref ICD10:E51.2 semapv:UnspecifiedMatching +Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:F02.3* semapv:UnspecifiedMatching +Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:F02.3* semapv:UnspecifiedMatching +Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref ICD10:G20+ semapv:UnspecifiedMatching +Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref UMLS:C4275027 semapv:UnspecifiedMatching +Orphanet:97355 Caribbean parkinsonism oboInOwl:hasDbXref icd11:8A00.1Y semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref MESH:C562492 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref MedDRA:10084325 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:UnspecifiedMatching +Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching +Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching +Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref UMLS:C0431691 semapv:UnspecifiedMatching +Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref ICD10:Q60.4 semapv:UnspecifiedMatching +Orphanet:97362 Renal hypoplasia, bilateral oboInOwl:hasDbXref UMLS:C0431692 semapv:UnspecifiedMatching +Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1567426 semapv:UnspecifiedMatching +Orphanet:97363 Unilateral multicystic dysplastic kidney oboInOwl:hasDbXref icd11:LB30.9 semapv:UnspecifiedMatching +Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10:Q61.4 semapv:UnspecifiedMatching +Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MESH:C537373 semapv:UnspecifiedMatching +Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1840451 semapv:UnspecifiedMatching +Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref icd11:LB30.9 semapv:UnspecifiedMatching +Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst oboInOwl:hasDbXref ICD10:N28.1 semapv:UnspecifiedMatching +Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching +Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref UMLS:C0431719 semapv:UnspecifiedMatching +Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref OMIM:267430 semapv:UnspecifiedMatching +Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref UMLS:C5681536 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref MESH:C538225 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref MedDRA:10079369 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:100300 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614219 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614814 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:615297 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616028 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616589 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref UMLS:C0265268 semapv:UnspecifiedMatching +Orphanet:974 Adams-Oliver syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref ICD10:Q20.6 semapv:UnspecifiedMatching +Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref MedDRA:10068335 semapv:UnspecifiedMatching +Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching +Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref UMLS:C3178806 semapv:UnspecifiedMatching +Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching +Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 semapv:UnspecifiedMatching +Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref OMIM:614692 semapv:UnspecifiedMatching +Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0086445 semapv:UnspecifiedMatching +Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching +Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching +Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching +Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching +Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref UMLS:C5680254 semapv:UnspecifiedMatching +Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching +Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching +Orphanet:97564 Pauci-immune glomerulonephritis without ANCA oboInOwl:hasDbXref UMLS:C5680253 semapv:UnspecifiedMatching +Orphanet:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching +Orphanet:97566 Non-amyloid fibrillary glomerulopathy oboInOwl:hasDbXref UMLS:C4273674 semapv:UnspecifiedMatching +Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching +Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref MedDRA:10067871 semapv:UnspecifiedMatching +Orphanet:97567 Immunotactoid glomerulopathy oboInOwl:hasDbXref UMLS:C2242534 semapv:UnspecifiedMatching +Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref ICD10:E20.1 semapv:UnspecifiedMatching +Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011547 semapv:UnspecifiedMatching +Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref MedDRA:10037126 semapv:UnspecifiedMatching +Orphanet:97593 Pseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033806 semapv:UnspecifiedMatching +Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref ICD10:Q27.1 semapv:UnspecifiedMatching +Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref UMLS:C0495523 semapv:UnspecifiedMatching +Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref icd11:LA90.40 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MESH:C538228 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268120 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching +Orphanet:97678 Maternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:97678 Maternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:97678 Maternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref UMLS:C4722325 semapv:UnspecifiedMatching +Orphanet:97678 Maternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref MESH:C563524 semapv:UnspecifiedMatching +Orphanet:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching +Orphanet:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5401456 semapv:UnspecifiedMatching +Orphanet:97685 17q11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching +Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref MESH:C538051 semapv:UnspecifiedMatching +Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref OMIM:300270 semapv:UnspecifiedMatching +Orphanet:977 Adrenomyodystrophy oboInOwl:hasDbXref UMLS:C1846044 semapv:UnspecifiedMatching +Orphanet:978 ADULT syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:978 ADULT syndrome oboInOwl:hasDbXref MESH:C538052 semapv:UnspecifiedMatching +Orphanet:978 ADULT syndrome oboInOwl:hasDbXref OMIM:103285 semapv:UnspecifiedMatching +Orphanet:978 ADULT syndrome oboInOwl:hasDbXref UMLS:C1863204 semapv:UnspecifiedMatching +Orphanet:978 ADULT syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:97929 Rare cardiac disease oboInOwl:hasDbXref UMLS:C5681552 semapv:UnspecifiedMatching +Orphanet:97935 Rare gastroenterologic disease oboInOwl:hasDbXref UMLS:C5681551 semapv:UnspecifiedMatching +Orphanet:97944 Gastroduodenal malformation oboInOwl:hasDbXref UMLS:C5681555 semapv:UnspecifiedMatching +Orphanet:97945 Intestinal malformation oboInOwl:hasDbXref UMLS:C5681554 semapv:UnspecifiedMatching +Orphanet:97955 Rare respiratory disease oboInOwl:hasDbXref UMLS:C5681553 semapv:UnspecifiedMatching +Orphanet:97957 Respiratory or thoracic malformation oboInOwl:hasDbXref UMLS:C5681559 semapv:UnspecifiedMatching +Orphanet:97962 Rare surgical thoracic disease oboInOwl:hasDbXref UMLS:C5681557 semapv:UnspecifiedMatching +Orphanet:97965 Rare surgical cardiac disease oboInOwl:hasDbXref UMLS:C5681558 semapv:UnspecifiedMatching +Orphanet:97966 Rare ophthalmic disorder oboInOwl:hasDbXref UMLS:C5681556 semapv:UnspecifiedMatching +Orphanet:97978 Rare endocrine disease oboInOwl:hasDbXref UMLS:C5681540 semapv:UnspecifiedMatching +Orphanet:97992 Rare hematologic disease oboInOwl:hasDbXref UMLS:C5681542 semapv:UnspecifiedMatching +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref MESH:C536787 semapv:UnspecifiedMatching +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref OMIM:270550 semapv:UnspecifiedMatching +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref UMLS:C1849140 semapv:UnspecifiedMatching +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:980 Absence of the pulmonary artery oboInOwl:hasDbXref UMLS:C0265905 semapv:UnspecifiedMatching +Orphanet:98004 Rare immune disease oboInOwl:hasDbXref UMLS:C5681541 semapv:UnspecifiedMatching +Orphanet:98006 Rare neurologic disease oboInOwl:hasDbXref UMLS:C5680252 semapv:UnspecifiedMatching +Orphanet:98010 Infectious disease of the nervous system oboInOwl:hasDbXref UMLS:C0597039 semapv:UnspecifiedMatching +Orphanet:98022 Rare headache oboInOwl:hasDbXref UMLS:C5681547 semapv:UnspecifiedMatching +Orphanet:98023 Rare systemic or rheumatologic disease oboInOwl:hasDbXref UMLS:C5681546 semapv:UnspecifiedMatching +Orphanet:98026 Rare odontologic disease oboInOwl:hasDbXref UMLS:C5681549 semapv:UnspecifiedMatching +Orphanet:98027 Rare disease with odontological manifestation oboInOwl:hasDbXref UMLS:C5681548 semapv:UnspecifiedMatching +Orphanet:98028 Rare circulatory system disease oboInOwl:hasDbXref UMLS:C5681550 semapv:UnspecifiedMatching +Orphanet:98033 Rare neurologic disease with psychiatric involvement oboInOwl:hasDbXref UMLS:C5681544 semapv:UnspecifiedMatching +Orphanet:98036 Rare otorhinolaryngologic disease oboInOwl:hasDbXref UMLS:C5681545 semapv:UnspecifiedMatching +Orphanet:98038 Cranial malformation oboInOwl:hasDbXref UMLS:C5681508 semapv:UnspecifiedMatching +Orphanet:98039 Digestive tract malformation oboInOwl:hasDbXref UMLS:C5681507 semapv:UnspecifiedMatching +Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen oboInOwl:hasDbXref UMLS:C5681509 semapv:UnspecifiedMatching +Orphanet:98043 Diaphragmatic or abdominal wall malformation oboInOwl:hasDbXref UMLS:C5681505 semapv:UnspecifiedMatching +Orphanet:98045 Respiratory or mediastinal malformation oboInOwl:hasDbXref UMLS:C5681506 semapv:UnspecifiedMatching +Orphanet:98047 Rare infertility oboInOwl:hasDbXref UMLS:C5681511 semapv:UnspecifiedMatching +Orphanet:98048 Rare male infertility oboInOwl:hasDbXref UMLS:C5681513 semapv:UnspecifiedMatching +Orphanet:98049 Rare female infertility oboInOwl:hasDbXref UMLS:C5681512 semapv:UnspecifiedMatching +Orphanet:98050 Rare allergic disease oboInOwl:hasDbXref UMLS:C5680222 semapv:UnspecifiedMatching +Orphanet:98052 Rare allergic respiratory disease oboInOwl:hasDbXref UMLS:C5680223 semapv:UnspecifiedMatching +Orphanet:98053 Rare genetic disease oboInOwl:hasDbXref UMLS:C5681510 semapv:UnspecifiedMatching +Orphanet:98054 Rare genetic cardiac disease oboInOwl:hasDbXref UMLS:C5681503 semapv:UnspecifiedMatching +Orphanet:98056 Rare genetic renal disease oboInOwl:hasDbXref UMLS:C5681504 semapv:UnspecifiedMatching +Orphanet:98057 Rare tumor oboInOwl:hasDbXref UMLS:C5680421 semapv:UnspecifiedMatching +Orphanet:98058 Rare urinary tract tumor oboInOwl:hasDbXref UMLS:C5680215 semapv:UnspecifiedMatching +Orphanet:98059 Rare digestive tumor oboInOwl:hasDbXref UMLS:C5680216 semapv:UnspecifiedMatching +Orphanet:98060 Rare respiratory tumor oboInOwl:hasDbXref UMLS:C5680217 semapv:UnspecifiedMatching +Orphanet:98061 Rare otorhinolaryngologic tumor oboInOwl:hasDbXref UMLS:C5680218 semapv:UnspecifiedMatching +Orphanet:98062 Rare nervous system tumor oboInOwl:hasDbXref UMLS:C5680219 semapv:UnspecifiedMatching +Orphanet:98063 Rare gynecological tumor oboInOwl:hasDbXref UMLS:C5680220 semapv:UnspecifiedMatching +Orphanet:98074 Gonadal dysgenesis of gynecological interest oboInOwl:hasDbXref UMLS:C5681521 semapv:UnspecifiedMatching +Orphanet:98078 46,XX difference of sex development induced by androgens excess oboInOwl:hasDbXref UMLS:C5680227 semapv:UnspecifiedMatching +Orphanet:98085 46,XY difference of sex development oboInOwl:hasDbXref MESH:D058490 semapv:UnspecifiedMatching +Orphanet:98085 46,XY difference of sex development oboInOwl:hasDbXref UMLS:C2751824 semapv:UnspecifiedMatching +Orphanet:98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue oboInOwl:hasDbXref UMLS:C5681514 semapv:UnspecifiedMatching +Orphanet:98087 Syndrome with 46,XY difference of sex development oboInOwl:hasDbXref UMLS:C5680224 semapv:UnspecifiedMatching +Orphanet:98095 Autosomal recessive congenital cerebellar ataxia oboInOwl:hasDbXref UMLS:C5681519 semapv:UnspecifiedMatching +Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia oboInOwl:hasDbXref UMLS:C5681517 semapv:UnspecifiedMatching +Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching +Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect oboInOwl:hasDbXref UMLS:C5681518 semapv:UnspecifiedMatching +Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia oboInOwl:hasDbXref UMLS:C5681515 semapv:UnspecifiedMatching +Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia oboInOwl:hasDbXref UMLS:C5681516 semapv:UnspecifiedMatching +Orphanet:981 Internal carotid absence oboInOwl:hasDbXref ICD10:Q28.1 semapv:UnspecifiedMatching +Orphanet:981 Internal carotid absence oboInOwl:hasDbXref ICD10:Q28.1 semapv:UnspecifiedMatching +Orphanet:981 Internal carotid absence oboInOwl:hasDbXref UMLS:C4302907 semapv:UnspecifiedMatching +Orphanet:98127 Autosomal anomaly oboInOwl:hasDbXref UMLS:C5681496 semapv:UnspecifiedMatching +Orphanet:98130 Autosomal trisomy oboInOwl:hasDbXref UMLS:C0041107 semapv:UnspecifiedMatching +Orphanet:98131 Total autosomal trisomy oboInOwl:hasDbXref UMLS:C5681498 semapv:UnspecifiedMatching +Orphanet:98141 Total autosomal monosomy oboInOwl:hasDbXref UMLS:C5681502 semapv:UnspecifiedMatching +Orphanet:98152 Autosomal uniparental disomy oboInOwl:hasDbXref UMLS:C5681500 semapv:UnspecifiedMatching +Orphanet:98153 Maternal uniparental disomy oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:98154 Paternal uniparental disomy oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:98155 Sex-chromosome anomaly oboInOwl:hasDbXref MESH:D012729 semapv:UnspecifiedMatching +Orphanet:98155 Sex-chromosome anomaly oboInOwl:hasDbXref UMLS:C0036868 semapv:UnspecifiedMatching +Orphanet:98156 Sex-chromosome number anomaly oboInOwl:hasDbXref UMLS:C5680212 semapv:UnspecifiedMatching +Orphanet:98157 Sex-chromosome structural anomaly oboInOwl:hasDbXref UMLS:C5680213 semapv:UnspecifiedMatching +Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98159 Chromosome X structural anomaly oboInOwl:hasDbXref UMLS:C5681501 semapv:UnspecifiedMatching +Orphanet:98196 Malformation syndrome with hamartosis oboInOwl:hasDbXref UMLS:C5680230 semapv:UnspecifiedMatching +Orphanet:98203 Combined dystonia oboInOwl:hasDbXref UMLS:C5680244 semapv:UnspecifiedMatching +Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching +Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D004535 semapv:UnspecifiedMatching +Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref MedDRA:10014316 semapv:UnspecifiedMatching +Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0013720 semapv:UnspecifiedMatching +Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1 semapv:UnspecifiedMatching +Orphanet:98252 Infectious encephalitis oboInOwl:hasDbXref MESH:D000069544 semapv:UnspecifiedMatching +Orphanet:98252 Infectious encephalitis oboInOwl:hasDbXref MedDRA:10058805 semapv:UnspecifiedMatching +Orphanet:98252 Infectious encephalitis oboInOwl:hasDbXref UMLS:C0596773 semapv:UnspecifiedMatching +Orphanet:98255 Chronic encephalitis oboInOwl:hasDbXref UMLS:C5681522 semapv:UnspecifiedMatching +Orphanet:98257 Neonatal epilepsy syndrome oboInOwl:hasDbXref UMLS:C5681524 semapv:UnspecifiedMatching +Orphanet:98258 Infantile epilepsy syndrome oboInOwl:hasDbXref UMLS:C5681523 semapv:UnspecifiedMatching +Orphanet:98259 Childhood-onset epilepsy syndrome oboInOwl:hasDbXref UMLS:C5681526 semapv:UnspecifiedMatching +Orphanet:98260 Adolescent-onset epilepsy syndrome oboInOwl:hasDbXref UMLS:C5681525 semapv:UnspecifiedMatching +Orphanet:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching +Orphanet:98261 Progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0751778 semapv:UnspecifiedMatching +Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref UMLS:C5680229 semapv:UnspecifiedMatching +Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching +Orphanet:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MESH:D009196 semapv:UnspecifiedMatching +Orphanet:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MedDRA:10028576 semapv:UnspecifiedMatching +Orphanet:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref MESH:D054437 semapv:UnspecifiedMatching +Orphanet:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref UMLS:C1301355 semapv:UnspecifiedMatching +Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref UMLS:C5680228 semapv:UnspecifiedMatching +Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching +Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref MESH:D054219 semapv:UnspecifiedMatching +Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref UMLS:C1959632 semapv:UnspecifiedMatching +Orphanet:98288 Macrophage or histiocytic tumor oboInOwl:hasDbXref UMLS:C5681531 semapv:UnspecifiedMatching +Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching +Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref UMLS:C5681852 semapv:UnspecifiedMatching +Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease oboInOwl:hasDbXref UMLS:C5681530 semapv:UnspecifiedMatching +Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease oboInOwl:hasDbXref icd11:2B32 semapv:UnspecifiedMatching +Orphanet:98291 Lymphoproliferative disease associated with primary immune disease oboInOwl:hasDbXref UMLS:C5681532 semapv:UnspecifiedMatching +Orphanet:98292 Mastocytosis oboInOwl:hasDbXref MESH:D008415 semapv:UnspecifiedMatching +Orphanet:98292 Mastocytosis oboInOwl:hasDbXref MedDRA:10026891 semapv:UnspecifiedMatching +Orphanet:98292 Mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching +Orphanet:98292 Mastocytosis oboInOwl:hasDbXref UMLS:C0024899 semapv:UnspecifiedMatching +Orphanet:98292 Mastocytosis oboInOwl:hasDbXref icd11:2A21 semapv:UnspecifiedMatching +Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching +Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0019829 semapv:UnspecifiedMatching +Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref icd11:2B30 semapv:UnspecifiedMatching +Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching +Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref OMIM:273250 semapv:UnspecifiedMatching +Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref UMLS:C0266427 semapv:UnspecifiedMatching +Orphanet:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref MESH:D054988 semapv:UnspecifiedMatching +Orphanet:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS:C2350236 semapv:UnspecifiedMatching +Orphanet:98301 Laminopathy oboInOwl:hasDbXref MESH:D000083083 semapv:UnspecifiedMatching +Orphanet:98305 Genetic lipodystrophy oboInOwl:hasDbXref UMLS:C4511302 semapv:UnspecifiedMatching +Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching +Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MedDRA:10087377 semapv:UnspecifiedMatching +Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C0271694 semapv:UnspecifiedMatching +Orphanet:98307 Acquired lipodystrophy oboInOwl:hasDbXref MedDRA:10049287 semapv:UnspecifiedMatching +Orphanet:98307 Acquired lipodystrophy oboInOwl:hasDbXref UMLS:C0877192 semapv:UnspecifiedMatching +Orphanet:98313 Male infertility due to gonadal dysgenesis oboInOwl:hasDbXref UMLS:C5680350 semapv:UnspecifiedMatching +Orphanet:98343 Male infertility due to obstructive azoospermia oboInOwl:hasDbXref UMLS:C5680348 semapv:UnspecifiedMatching +Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5680349 semapv:UnspecifiedMatching +Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5680344 semapv:UnspecifiedMatching +Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5680345 semapv:UnspecifiedMatching +Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5680346 semapv:UnspecifiedMatching +Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5680347 semapv:UnspecifiedMatching +Orphanet:98360 Constitutional anemia due to iron metabolism disorder oboInOwl:hasDbXref UMLS:C5681718 semapv:UnspecifiedMatching +Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref ICD10:D64.0 semapv:UnspecifiedMatching +Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref UMLS:C0221018 semapv:UnspecifiedMatching +Orphanet:98362 Constitutional sideroblastic anemia oboInOwl:hasDbXref icd11:3A72.0 semapv:UnspecifiedMatching +Orphanet:98363 Rare hemolytic anemia oboInOwl:hasDbXref UMLS:C5681717 semapv:UnspecifiedMatching +Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly oboInOwl:hasDbXref UMLS:C5681716 semapv:UnspecifiedMatching +Orphanet:98365 Hereditary stomatocytosis oboInOwl:hasDbXref MedDRA:10053589 semapv:UnspecifiedMatching +Orphanet:98365 Hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C1262483 semapv:UnspecifiedMatching +Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis oboInOwl:hasDbXref UMLS:C0687751 semapv:UnspecifiedMatching +Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder oboInOwl:hasDbXref UMLS:C5681715 semapv:UnspecifiedMatching +Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies oboInOwl:hasDbXref UMLS:C5681714 semapv:UnspecifiedMatching +Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies oboInOwl:hasDbXref icd11:3A10.0 semapv:UnspecifiedMatching +Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching +Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes oboInOwl:hasDbXref UMLS:C5681713 semapv:UnspecifiedMatching +Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching +Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder oboInOwl:hasDbXref UMLS:C5680359 semapv:UnspecifiedMatching +Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching +Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref MedDRA:10002046 semapv:UnspecifiedMatching +Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0002880 semapv:UnspecifiedMatching +Orphanet:98375 Autoimmune hemolytic anemia oboInOwl:hasDbXref icd11:3A20 semapv:UnspecifiedMatching +Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder oboInOwl:hasDbXref UMLS:C5681709 semapv:UnspecifiedMatching +Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref ICD10:Q33.3 semapv:UnspecifiedMatching +Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref MESH:C562992 semapv:UnspecifiedMatching +Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref MedDRA:10037322 semapv:UnspecifiedMatching +Orphanet:984 Pulmonary agenesis oboInOwl:hasDbXref UMLS:C0265780 semapv:UnspecifiedMatching +Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder oboInOwl:hasDbXref UMLS:C5681711 semapv:UnspecifiedMatching +Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia oboInOwl:hasDbXref UMLS:C5681710 semapv:UnspecifiedMatching +Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia oboInOwl:hasDbXref icd11:3A03.Y semapv:UnspecifiedMatching +Orphanet:98421 Primary acquired red cell aplasia oboInOwl:hasDbXref MedDRA:10038184 semapv:UnspecifiedMatching +Orphanet:98421 Primary acquired red cell aplasia oboInOwl:hasDbXref UMLS:C0034902 semapv:UnspecifiedMatching +Orphanet:98427 Polycythemia oboInOwl:hasDbXref MESH:D011086 semapv:UnspecifiedMatching +Orphanet:98427 Polycythemia oboInOwl:hasDbXref MedDRA:10036051 semapv:UnspecifiedMatching +Orphanet:98427 Polycythemia oboInOwl:hasDbXref UMLS:C0032461 semapv:UnspecifiedMatching +Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref MedDRA:10036062 semapv:UnspecifiedMatching +Orphanet:98428 Secondary polycythemia oboInOwl:hasDbXref UMLS:C1318533 semapv:UnspecifiedMatching +Orphanet:98429 Rare coagulation disorder oboInOwl:hasDbXref UMLS:C5681721 semapv:UnspecifiedMatching +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:277450 semapv:UnspecifiedMatching +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref OMIM:607473 semapv:UnspecifiedMatching +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS:C4510617 semapv:UnspecifiedMatching +Orphanet:98455 Alpha granule disease oboInOwl:hasDbXref UMLS:C5681720 semapv:UnspecifiedMatching +Orphanet:98456 Dense granule disease oboInOwl:hasDbXref UMLS:C5680362 semapv:UnspecifiedMatching +Orphanet:98456 Dense granule disease oboInOwl:hasDbXref icd11:3B62.3 semapv:UnspecifiedMatching +Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref MESH:D009135 semapv:UnspecifiedMatching +Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref MedDRA:10028641 semapv:UnspecifiedMatching +Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref UMLS:C1533847 semapv:UnspecifiedMatching +Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref MESH:D009136 semapv:UnspecifiedMatching +Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref MedDRA:10028356 semapv:UnspecifiedMatching +Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref UMLS:C0026850 semapv:UnspecifiedMatching +Orphanet:98482 Idiopathic inflammatory myopathy oboInOwl:hasDbXref MedDRA:10085970 semapv:UnspecifiedMatching +Orphanet:98482 Idiopathic inflammatory myopathy oboInOwl:hasDbXref UMLS:C0751356 semapv:UnspecifiedMatching +Orphanet:98486 Metabolic myopathy oboInOwl:hasDbXref MedDRA:10068836 semapv:UnspecifiedMatching +Orphanet:98486 Metabolic myopathy oboInOwl:hasDbXref UMLS:C0270984 semapv:UnspecifiedMatching +Orphanet:98491 Neuromuscular junction disease oboInOwl:hasDbXref MESH:D020511 semapv:UnspecifiedMatching +Orphanet:98491 Neuromuscular junction disease oboInOwl:hasDbXref UMLS:C0751950 semapv:UnspecifiedMatching +Orphanet:98494 Acquired neuromuscular junction disease oboInOwl:hasDbXref UMLS:C5681732 semapv:UnspecifiedMatching +Orphanet:98495 Genetic neuromuscular junction disease oboInOwl:hasDbXref UMLS:C5681843 semapv:UnspecifiedMatching +Orphanet:98496 Rare peripheral neuropathy oboInOwl:hasDbXref UMLS:C5681734 semapv:UnspecifiedMatching +Orphanet:98497 Genetic peripheral neuropathy oboInOwl:hasDbXref UMLS:C5681733 semapv:UnspecifiedMatching +Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching +Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref MedDRA:10028003 semapv:UnspecifiedMatching +Orphanet:98503 Motor neuron disease oboInOwl:hasDbXref UMLS:C0085084 semapv:UnspecifiedMatching +Orphanet:98505 Genetic motor neuron disease oboInOwl:hasDbXref UMLS:C5680368 semapv:UnspecifiedMatching +Orphanet:98506 Acquired motor neuron disease oboInOwl:hasDbXref UMLS:C5680367 semapv:UnspecifiedMatching +Orphanet:98514 Malformation of the cerebellar vermis oboInOwl:hasDbXref UMLS:C5681737 semapv:UnspecifiedMatching +Orphanet:98516 Malformation of the cerebellar hemispheres oboInOwl:hasDbXref UMLS:C5681736 semapv:UnspecifiedMatching +Orphanet:98518 Cranial nerve and nuclear aplasia oboInOwl:hasDbXref UMLS:C5681735 semapv:UnspecifiedMatching +Orphanet:98523 Non-syndromic pontocerebellar hypoplasia oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching +Orphanet:98534 Neurodegenerative disease with dementia oboInOwl:hasDbXref UMLS:C5681723 semapv:UnspecifiedMatching +Orphanet:98535 Frontotemporal degeneration with dementia oboInOwl:hasDbXref UMLS:C5681727 semapv:UnspecifiedMatching +Orphanet:98538 Ataxia with dementia oboInOwl:hasDbXref UMLS:C5681728 semapv:UnspecifiedMatching +Orphanet:98539 Early-onset ataxia with dementia oboInOwl:hasDbXref UMLS:C5681725 semapv:UnspecifiedMatching +Orphanet:98540 Late-onset ataxia with dementia oboInOwl:hasDbXref UMLS:C5681724 semapv:UnspecifiedMatching +Orphanet:98542 Infectious disease with dementia oboInOwl:hasDbXref UMLS:C5681726 semapv:UnspecifiedMatching +Orphanet:98543 Metabolic disease with dementia oboInOwl:hasDbXref UMLS:C5681731 semapv:UnspecifiedMatching +Orphanet:98544 Cerebral lipidosis with dementia oboInOwl:hasDbXref UMLS:C5681730 semapv:UnspecifiedMatching +Orphanet:98549 Rare cerebrovascular dementia oboInOwl:hasDbXref UMLS:C5681729 semapv:UnspecifiedMatching +Orphanet:98553 Developmental defect of the eye oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching +Orphanet:98553 Developmental defect of the eye oboInOwl:hasDbXref OMIM:216820 semapv:UnspecifiedMatching +Orphanet:98553 Developmental defect of the eye oboInOwl:hasDbXref UMLS:C5681657 semapv:UnspecifiedMatching +Orphanet:98555 Microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5680330 semapv:UnspecifiedMatching +Orphanet:98557 Syndromic aniridia oboInOwl:hasDbXref UMLS:C5681658 semapv:UnspecifiedMatching +Orphanet:98560 Rare palpebral disorder oboInOwl:hasDbXref UMLS:C5681654 semapv:UnspecifiedMatching +Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref MedDRA:10011497 semapv:UnspecifiedMatching +Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref UMLS:C0311249 semapv:UnspecifiedMatching +Orphanet:98563 Microblepharon-ablephara syndrome oboInOwl:hasDbXref UMLS:C5681656 semapv:UnspecifiedMatching +Orphanet:98564 Eyelid border anomaly oboInOwl:hasDbXref UMLS:C5681655 semapv:UnspecifiedMatching +Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum oboInOwl:hasDbXref UMLS:C5680329 semapv:UnspecifiedMatching +Orphanet:98566 Syndromic eyelid coloboma oboInOwl:hasDbXref UMLS:C5680328 semapv:UnspecifiedMatching +Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching +Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref UMLS:C0266578 semapv:UnspecifiedMatching +Orphanet:98570 Congenital ectropion oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching +Orphanet:98571 Secondary ectropion oboInOwl:hasDbXref ICD10:H02.1 semapv:UnspecifiedMatching +Orphanet:98571 Secondary ectropion oboInOwl:hasDbXref ICD10:H02.1 semapv:UnspecifiedMatching +Orphanet:98571 Secondary ectropion oboInOwl:hasDbXref UMLS:C5681652 semapv:UnspecifiedMatching +Orphanet:98574 Syndromic epicanthus oboInOwl:hasDbXref UMLS:C5681653 semapv:UnspecifiedMatching +Orphanet:98575 Syndromic telecanthus oboInOwl:hasDbXref UMLS:C0423113 semapv:UnspecifiedMatching +Orphanet:98576 Syndromic outer canthal malposition oboInOwl:hasDbXref UMLS:C5680327 semapv:UnspecifiedMatching +Orphanet:98578 Rare disorder with ptosis oboInOwl:hasDbXref MESH:D001763 semapv:UnspecifiedMatching +Orphanet:98578 Rare disorder with ptosis oboInOwl:hasDbXref UMLS:C5681651 semapv:UnspecifiedMatching +Orphanet:98594 Rare eyebrow/eyelash disorder oboInOwl:hasDbXref UMLS:C5680326 semapv:UnspecifiedMatching +Orphanet:98602 Rare disorder of the lacrimal apparatus oboInOwl:hasDbXref UMLS:C5680324 semapv:UnspecifiedMatching +Orphanet:98604 Congenital alacrima oboInOwl:hasDbXref MESH:C566307 semapv:UnspecifiedMatching +Orphanet:98604 Congenital alacrima oboInOwl:hasDbXref UMLS:C1863199 semapv:UnspecifiedMatching +Orphanet:98605 Lacrimal drainage system anomaly oboInOwl:hasDbXref UMLS:C5680325 semapv:UnspecifiedMatching +Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref ICD10:Q10.7 semapv:UnspecifiedMatching +Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref OMIM:165600 semapv:UnspecifiedMatching +Orphanet:98606 Syndromic orbital border hypoplasia oboInOwl:hasDbXref UMLS:C4273912 semapv:UnspecifiedMatching +Orphanet:98609 EEC syndrome and related disorders oboInOwl:hasDbXref UMLS:C5680323 semapv:UnspecifiedMatching +Orphanet:98610 Rare disorder with conjunctival involvement as a major feature oboInOwl:hasDbXref UMLS:C5681650 semapv:UnspecifiedMatching +Orphanet:98618 Rare refraction anomaly oboInOwl:hasDbXref UMLS:C5681677 semapv:UnspecifiedMatching +Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref ICD10:H52.1 semapv:UnspecifiedMatching +Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:608908 semapv:UnspecifiedMatching +Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:614292 semapv:UnspecifiedMatching +Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref OMIM:615431 semapv:UnspecifiedMatching +Orphanet:98619 Rare isolated myopia oboInOwl:hasDbXref UMLS:C4751232 semapv:UnspecifiedMatching +Orphanet:98621 Rare hyperopia and astigmatism oboInOwl:hasDbXref UMLS:C5681676 semapv:UnspecifiedMatching +Orphanet:98622 Syndromic hyperopia oboInOwl:hasDbXref UMLS:C5681675 semapv:UnspecifiedMatching +Orphanet:98623 Syndromic keratoconus oboInOwl:hasDbXref UMLS:C5681674 semapv:UnspecifiedMatching +Orphanet:98625 Superficial corneal dystrophy oboInOwl:hasDbXref UMLS:C2315777 semapv:UnspecifiedMatching +Orphanet:98626 Stromal corneal dystrophy oboInOwl:hasDbXref UMLS:C0038457 semapv:UnspecifiedMatching +Orphanet:98627 Posterior corneal dystrophy oboInOwl:hasDbXref UMLS:C2063478 semapv:UnspecifiedMatching +Orphanet:98628 Syndromic corneal dystrophy oboInOwl:hasDbXref UMLS:C5681673 semapv:UnspecifiedMatching +Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature oboInOwl:hasDbXref UMLS:C5681671 semapv:UnspecifiedMatching +Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations oboInOwl:hasDbXref UMLS:C5681672 semapv:UnspecifiedMatching +Orphanet:98635 Corneodysgenesis oboInOwl:hasDbXref UMLS:C5680334 semapv:UnspecifiedMatching +Orphanet:98638 Rare disease with glaucoma as a major feature oboInOwl:hasDbXref UMLS:C5681670 semapv:UnspecifiedMatching +Orphanet:98639 Rare lens disease oboInOwl:hasDbXref UMLS:C5681667 semapv:UnspecifiedMatching +Orphanet:98640 Rare disorder with lens opacification oboInOwl:hasDbXref UMLS:C5680333 semapv:UnspecifiedMatching +Orphanet:98641 Syndromic cataract oboInOwl:hasDbXref UMLS:C5681668 semapv:UnspecifiedMatching +Orphanet:98642 Chromosomal anomaly with cataract oboInOwl:hasDbXref UMLS:C5681669 semapv:UnspecifiedMatching +Orphanet:98644 Metabolic disease with cataract oboInOwl:hasDbXref UMLS:C5681665 semapv:UnspecifiedMatching +Orphanet:98646 Renal disease with cataract oboInOwl:hasDbXref UMLS:C5681666 semapv:UnspecifiedMatching +Orphanet:98648 Musculoskeletal disease with cataract oboInOwl:hasDbXref UMLS:C5681664 semapv:UnspecifiedMatching +Orphanet:98649 Dentocutaneous disease with cataract oboInOwl:hasDbXref UMLS:C5681663 semapv:UnspecifiedMatching +Orphanet:98650 Craniofacial anomaly with cataract oboInOwl:hasDbXref UMLS:C5681662 semapv:UnspecifiedMatching +Orphanet:98652 Lens size anomaly oboInOwl:hasDbXref UMLS:C5681661 semapv:UnspecifiedMatching +Orphanet:98653 Lens position anomaly oboInOwl:hasDbXref UMLS:C5681660 semapv:UnspecifiedMatching +Orphanet:98658 Color-vision disease oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:98658 Color-vision disease oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:98658 Color-vision disease oboInOwl:hasDbXref UMLS:C5681659 semapv:UnspecifiedMatching +Orphanet:98661 Syndromic rod-cone dystrophy oboInOwl:hasDbXref UMLS:C5680332 semapv:UnspecifiedMatching +Orphanet:98671 Hereditary optic neuropathy oboInOwl:hasDbXref MedDRA:10061323 semapv:UnspecifiedMatching +Orphanet:98671 Hereditary optic neuropathy oboInOwl:hasDbXref icd11:9C40.8 semapv:UnspecifiedMatching +Orphanet:98672 Autosomal dominant optic atrophy oboInOwl:hasDbXref MESH:D029241 semapv:UnspecifiedMatching +Orphanet:98672 Autosomal dominant optic atrophy oboInOwl:hasDbXref UMLS:C4551508 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:165500 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:605293 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:610708 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref OMIM:618977 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref UMLS:C0338508 semapv:UnspecifiedMatching +Orphanet:98673 Autosomal dominant optic atrophy, classic form oboInOwl:hasDbXref icd11:9C40.8 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:258500 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:616289 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:616732 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMIM:617302 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref UMLS:C5680331 semapv:UnspecifiedMatching +Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref icd11:9C40.8 semapv:UnspecifiedMatching +Orphanet:98681 Rare disorder with strabismus oboInOwl:hasDbXref UMLS:C5681695 semapv:UnspecifiedMatching +Orphanet:98682 NON RARE IN EUROPE: Essential strabismus oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:98682 NON RARE IN EUROPE: Essential strabismus oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching +Orphanet:98683 Syndromic disorder with strabismus oboInOwl:hasDbXref UMLS:C5680339 semapv:UnspecifiedMatching +Orphanet:98684 Craniostenosis with strabismus oboInOwl:hasDbXref UMLS:C5681696 semapv:UnspecifiedMatching +Orphanet:98685 Rare oculomotor nerve disorder oboInOwl:hasDbXref UMLS:C5681697 semapv:UnspecifiedMatching +Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching +Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref ICD10:H49.1 semapv:UnspecifiedMatching +Orphanet:98686 Congenital trochlear nerve palsy oboInOwl:hasDbXref UMLS:C5680340 semapv:UnspecifiedMatching +Orphanet:98687 Supranuclear eye movement disorder oboInOwl:hasDbXref UMLS:C5681698 semapv:UnspecifiedMatching +Orphanet:98688 Oculomotor apraxia oboInOwl:hasDbXref UMLS:C3489733 semapv:UnspecifiedMatching +Orphanet:98706 Oculocutaneous or ocular albinism oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:98706 Oculocutaneous or ocular albinism oboInOwl:hasDbXref UMLS:C5681694 semapv:UnspecifiedMatching +Orphanet:98715 Uveitis oboInOwl:hasDbXref MESH:D014605 semapv:UnspecifiedMatching +Orphanet:98715 Uveitis oboInOwl:hasDbXref MedDRA:10046851 semapv:UnspecifiedMatching +Orphanet:98715 Uveitis oboInOwl:hasDbXref UMLS:C0042164 semapv:UnspecifiedMatching +Orphanet:98716 Heart position anomaly oboInOwl:hasDbXref UMLS:C5681690 semapv:UnspecifiedMatching +Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly oboInOwl:hasDbXref UMLS:C5681688 semapv:UnspecifiedMatching +Orphanet:98718 Aortic malformation oboInOwl:hasDbXref UMLS:C5681689 semapv:UnspecifiedMatching +Orphanet:98719 Pulmonary artery or pulmonary branch anomaly oboInOwl:hasDbXref UMLS:C5681692 semapv:UnspecifiedMatching +Orphanet:98720 Atrioventricular valve anomaly oboInOwl:hasDbXref UMLS:C5681693 semapv:UnspecifiedMatching +Orphanet:98721 Congenital tricuspid malformation oboInOwl:hasDbXref UMLS:C5681691 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref MESH:C562831 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref MedDRA:10063836 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:600309 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:606215 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:606217 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:614474 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching +Orphanet:98722 Atrioventricular septal defect oboInOwl:hasDbXref UMLS:C1389018 semapv:UnspecifiedMatching +Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10:Q22.6 semapv:UnspecifiedMatching +Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref MedDRA:10064962 semapv:UnspecifiedMatching +Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS:C0344963 semapv:UnspecifiedMatching +Orphanet:98724 Congenital anomaly of the great arteries oboInOwl:hasDbXref UMLS:C0948632 semapv:UnspecifiedMatching +Orphanet:98725 Ascending aorta anomaly oboInOwl:hasDbXref UMLS:C0345043 semapv:UnspecifiedMatching +Orphanet:98727 Rare atrial defect and interatrial communication oboInOwl:hasDbXref UMLS:C5680337 semapv:UnspecifiedMatching +Orphanet:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MESH:D001164 semapv:UnspecifiedMatching +Orphanet:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MedDRA:10003226 semapv:UnspecifiedMatching +Orphanet:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref UMLS:C0332965 semapv:UnspecifiedMatching +Orphanet:98733 Noonan syndrome and Noonan-related syndrome oboInOwl:hasDbXref UMLS:C5681679 semapv:UnspecifiedMatching +Orphanet:98737 Genetic neurological muscular channelopathy oboInOwl:hasDbXref UMLS:C5681683 semapv:UnspecifiedMatching +Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect oboInOwl:hasDbXref UMLS:C5681681 semapv:UnspecifiedMatching +Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect oboInOwl:hasDbXref UMLS:C5681687 semapv:UnspecifiedMatching +Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect oboInOwl:hasDbXref UMLS:C5681686 semapv:UnspecifiedMatching +Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect oboInOwl:hasDbXref UMLS:C5681685 semapv:UnspecifiedMatching +Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect oboInOwl:hasDbXref UMLS:C5681684 semapv:UnspecifiedMatching +Orphanet:98743 Genetic neurological channelopathy of the central nervous system oboInOwl:hasDbXref UMLS:C5681704 semapv:UnspecifiedMatching +Orphanet:98744 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect oboInOwl:hasDbXref UMLS:C5681705 semapv:UnspecifiedMatching +Orphanet:98745 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect oboInOwl:hasDbXref UMLS:C5681707 semapv:UnspecifiedMatching +Orphanet:98746 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect oboInOwl:hasDbXref UMLS:C5681708 semapv:UnspecifiedMatching +Orphanet:98747 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect oboInOwl:hasDbXref UMLS:C5681700 semapv:UnspecifiedMatching +Orphanet:98748 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect oboInOwl:hasDbXref UMLS:C5681701 semapv:UnspecifiedMatching +Orphanet:98749 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect oboInOwl:hasDbXref UMLS:C5681702 semapv:UnspecifiedMatching +Orphanet:98750 Autoimmune neurological channelopathy oboInOwl:hasDbXref UMLS:C5681703 semapv:UnspecifiedMatching +Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching +Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref UMLS:C5680343 semapv:UnspecifiedMatching +Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref OMIM:164400 semapv:UnspecifiedMatching +Orphanet:98755 Spinocerebellar ataxia type 1 oboInOwl:hasDbXref UMLS:C0752120 semapv:UnspecifiedMatching +Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref OMIM:183090 semapv:UnspecifiedMatching +Orphanet:98756 Spinocerebellar ataxia type 2 oboInOwl:hasDbXref UMLS:C0752121 semapv:UnspecifiedMatching +Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref MESH:D017827 semapv:UnspecifiedMatching +Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching +Orphanet:98757 Spinocerebellar ataxia type 3 oboInOwl:hasDbXref UMLS:C0024408 semapv:UnspecifiedMatching +Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref OMIM:183086 semapv:UnspecifiedMatching +Orphanet:98758 Spinocerebellar ataxia type 6 oboInOwl:hasDbXref UMLS:C0752124 semapv:UnspecifiedMatching +Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref MESH:C564616 semapv:UnspecifiedMatching +Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref OMIM:607136 semapv:UnspecifiedMatching +Orphanet:98759 Spinocerebellar ataxia type 17 oboInOwl:hasDbXref UMLS:C1846707 semapv:UnspecifiedMatching +Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref MESH:C537307 semapv:UnspecifiedMatching +Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref OMIM:608768 semapv:UnspecifiedMatching +Orphanet:98760 Spinocerebellar ataxia type 8 oboInOwl:hasDbXref UMLS:C1837454 semapv:UnspecifiedMatching +Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref MESH:C566874 semapv:UnspecifiedMatching +Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref OMIM:603516 semapv:UnspecifiedMatching +Orphanet:98761 Spinocerebellar ataxia type 10 oboInOwl:hasDbXref UMLS:C1963674 semapv:UnspecifiedMatching +Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref MESH:C565790 semapv:UnspecifiedMatching +Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref OMIM:604326 semapv:UnspecifiedMatching +Orphanet:98762 Spinocerebellar ataxia type 12 oboInOwl:hasDbXref UMLS:C1858501 semapv:UnspecifiedMatching +Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref MESH:C537196 semapv:UnspecifiedMatching +Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref OMIM:605361 semapv:UnspecifiedMatching +Orphanet:98763 Spinocerebellar ataxia type 14 oboInOwl:hasDbXref UMLS:C1854369 semapv:UnspecifiedMatching +Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref MESH:C537204 semapv:UnspecifiedMatching +Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref OMIM:193003 semapv:UnspecifiedMatching +Orphanet:98764 Spinocerebellar ataxia type 27 oboInOwl:hasDbXref UMLS:C1836383 semapv:UnspecifiedMatching +Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:600223 semapv:UnspecifiedMatching +Orphanet:98765 Spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C0752122 semapv:UnspecifiedMatching +Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref OMIM:600224 semapv:UnspecifiedMatching +Orphanet:98766 Spinocerebellar ataxia type 5 oboInOwl:hasDbXref UMLS:C0752123 semapv:UnspecifiedMatching +Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref MESH:C565772 semapv:UnspecifiedMatching +Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref OMIM:604432 semapv:UnspecifiedMatching +Orphanet:98767 Spinocerebellar ataxia type 11 oboInOwl:hasDbXref UMLS:C1858351 semapv:UnspecifiedMatching +Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref MESH:C537195 semapv:UnspecifiedMatching +Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref OMIM:605259 semapv:UnspecifiedMatching +Orphanet:98768 Spinocerebellar ataxia type 13 oboInOwl:hasDbXref UMLS:C1854488 semapv:UnspecifiedMatching +Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching +Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching +Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref MESH:C537197 semapv:UnspecifiedMatching +Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref OMIM:607458 semapv:UnspecifiedMatching +Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref UMLS:C1843884 semapv:UnspecifiedMatching +Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref MESH:C537198 semapv:UnspecifiedMatching +Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching +Orphanet:98772 Spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref UMLS:C5235656 semapv:UnspecifiedMatching +Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref MESH:C537200 semapv:UnspecifiedMatching +Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref OMIM:607454 semapv:UnspecifiedMatching +Orphanet:98773 Spinocerebellar ataxia type 21 oboInOwl:hasDbXref UMLS:C1843891 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref MESH:C579932 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:600513 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:603204 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:605375 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:610353 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:615005 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref UMLS:C3696898 semapv:UnspecifiedMatching +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching +Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching +Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching +Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching +Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref UMLS:C0796117 semapv:UnspecifiedMatching +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref MESH:C563050 semapv:UnspecifiedMatching +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref OMIM:141750 semapv:UnspecifiedMatching +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref UMLS:C0795917 semapv:UnspecifiedMatching +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref icd11:3A50.1 semapv:UnspecifiedMatching +Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref UMLS:C5681699 semapv:UnspecifiedMatching +Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching +Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching +Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref UMLS:C5680342 semapv:UnspecifiedMatching +Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching +Orphanet:98797 Isochromosomy Yp oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98797 Isochromosomy Yp oboInOwl:hasDbXref UMLS:C4707793 semapv:UnspecifiedMatching +Orphanet:98798 Isochromosomy Yq oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98798 Isochromosomy Yq oboInOwl:hasDbXref UMLS:C4749291 semapv:UnspecifiedMatching +Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref MESH:C535564 semapv:UnspecifiedMatching +Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching +Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome oboInOwl:hasDbXref UMLS:C4707180 semapv:UnspecifiedMatching +Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref MESH:C536698 semapv:UnspecifiedMatching +Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref OMIM:128101 semapv:UnspecifiedMatching +Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref UMLS:C1860315 semapv:UnspecifiedMatching +Orphanet:98805 Primary dystonia, DYT4 type oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref MESH:C538003 semapv:UnspecifiedMatching +Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref OMIM:602629 semapv:UnspecifiedMatching +Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref UMLS:C1414216 semapv:UnspecifiedMatching +Orphanet:98806 Primary dystonia, DYT6 type oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref MESH:C564354 semapv:UnspecifiedMatching +Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref OMIM:607671 semapv:UnspecifiedMatching +Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref UMLS:C1843264 semapv:UnspecifiedMatching +Orphanet:98807 Primary dystonia, DYT13 type oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching +Orphanet:98808 Autosomal dominant dopa-responsive dystonia oboInOwl:hasDbXref OMIM:619911 semapv:UnspecifiedMatching +Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:128200 semapv:UnspecifiedMatching +Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611031 semapv:UnspecifiedMatching +Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C1868682 semapv:UnspecifiedMatching +Orphanet:98809 Paroxysmal kinesigenic dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref MESH:C537181 semapv:UnspecifiedMatching +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:118800 semapv:UnspecifiedMatching +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref OMIM:611147 semapv:UnspecifiedMatching +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia oboInOwl:hasDbXref UMLS:C5680312 semapv:UnspecifiedMatching +Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref MESH:C564288 semapv:UnspecifiedMatching +Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching +Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref UMLS:C1842534 semapv:UnspecifiedMatching +Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching +Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref UMLS:C0393777 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref MESH:C536181 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref UMLS:C1846006 semapv:UnspecifiedMatching +Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref MedDRA:10052075 semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching +Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS:C0282512 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref ICD10:G40.2 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref MESH:C536956 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:608096 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref OMIM:611631 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C1842564 semapv:UnspecifiedMatching +Orphanet:98819 Familial temporal lobe epilepsy oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:604364 semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617116 semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIM:617118 semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref UMLS:C1858477 semapv:UnspecifiedMatching +Orphanet:98820 Familial focal epilepsy with variable foci oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching +Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.1 semapv:UnspecifiedMatching +Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.1 semapv:UnspecifiedMatching +Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015477 semapv:UnspecifiedMatching +Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref MedDRA:10009018 semapv:UnspecifiedMatching +Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0023480 semapv:UnspecifiedMatching +Orphanet:98823 Chronic myelomonocytic leukemia oboInOwl:hasDbXref icd11:2A40 semapv:UnspecifiedMatching +Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.2 semapv:UnspecifiedMatching +Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref ICD10:C92.2 semapv:UnspecifiedMatching +Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MESH:D054438 semapv:UnspecifiedMatching +Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref MedDRA:10054651 semapv:UnspecifiedMatching +Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C1292772 semapv:UnspecifiedMatching +Orphanet:98824 Atypical chronic myeloid leukemia oboInOwl:hasDbXref icd11:2A41 semapv:UnspecifiedMatching +Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref ICD10:C94.6 semapv:UnspecifiedMatching +Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref UMLS:C1328061 semapv:UnspecifiedMatching +Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref icd11:2A44 semapv:UnspecifiedMatching +Orphanet:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:98826 Refractory anemia oboInOwl:hasDbXref MESH:D000753 semapv:UnspecifiedMatching +Orphanet:98826 Refractory anemia oboInOwl:hasDbXref MedDRA:10038269 semapv:UnspecifiedMatching +Orphanet:98826 Refractory anemia oboInOwl:hasDbXref UMLS:C0002893 semapv:UnspecifiedMatching +Orphanet:98826 Refractory anemia oboInOwl:hasDbXref icd11:2A30 semapv:UnspecifiedMatching +Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C5681636 semapv:UnspecifiedMatching +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref UMLS:C5395080 semapv:UnspecifiedMatching +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching +Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching +Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref UMLS:C1292775 semapv:UnspecifiedMatching +Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching +Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref icd11:XH1E41 semapv:UnspecifiedMatching +Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS:C0522631 semapv:UnspecifiedMatching +Orphanet:98832 Acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref icd11:XH90G0 semapv:UnspecifiedMatching +Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:98833 Acute myeloblastic leukemia without maturation oboInOwl:hasDbXref UMLS:C0026998 semapv:UnspecifiedMatching +Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching +Orphanet:98834 Acute myeloblastic leukemia with maturation oboInOwl:hasDbXref UMLS:C1879321 semapv:UnspecifiedMatching +Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref MedDRA:10045516 semapv:UnspecifiedMatching +Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref UMLS:C0280141 semapv:UnspecifiedMatching +Orphanet:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching +Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10036710 semapv:UnspecifiedMatching +Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1292754 semapv:UnspecifiedMatching +Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10069643 semapv:UnspecifiedMatching +Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref UMLS:C0334660 semapv:UnspecifiedMatching +Orphanet:98839 Intravascular large B-cell lymphoma oboInOwl:hasDbXref icd11:2A81.1 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.6 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref MESH:D017728 semapv:UnspecifiedMatching +Orphanet:98841 Anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C0206180 semapv:UnspecifiedMatching +Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref ICD10:C86.6 semapv:UnspecifiedMatching +Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MESH:D017731 semapv:UnspecifiedMatching +Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref MedDRA:10056670 semapv:UnspecifiedMatching +Orphanet:98842 Lymphomatoid papulosis oboInOwl:hasDbXref UMLS:C0206182 semapv:UnspecifiedMatching +Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching +Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref ICD10:C81.1 semapv:UnspecifiedMatching +Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref MedDRA:10020244 semapv:UnspecifiedMatching +Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref UMLS:C0152268 semapv:UnspecifiedMatching +Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type oboInOwl:hasDbXref icd11:2B30.10 semapv:UnspecifiedMatching +Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching +Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref ICD10:C81.2 semapv:UnspecifiedMatching +Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref MedDRA:10020242 semapv:UnspecifiedMatching +Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type oboInOwl:hasDbXref UMLS:C0152266 semapv:UnspecifiedMatching +Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching +Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref ICD10:C81.4 semapv:UnspecifiedMatching +Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref MedDRA:10020231 semapv:UnspecifiedMatching +Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref UMLS:C5681637 semapv:UnspecifiedMatching +Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type oboInOwl:hasDbXref icd11:2B30.11 semapv:UnspecifiedMatching +Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching +Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref ICD10:C81.3 semapv:UnspecifiedMatching +Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref MedDRA:10020219 semapv:UnspecifiedMatching +Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type oboInOwl:hasDbXref UMLS:C0152267 semapv:UnspecifiedMatching +Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching +Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056452 semapv:UnspecifiedMatching +Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref UMLS:C0272203 semapv:UnspecifiedMatching +Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching +Orphanet:98848 Indolent systemic mastocytosis oboInOwl:hasDbXref icd11:XH2Y59 semapv:UnspecifiedMatching +Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref UMLS:C1301365 semapv:UnspecifiedMatching +Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching +Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching +Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref MedDRA:10056453 semapv:UnspecifiedMatching +Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref UMLS:C1112486 semapv:UnspecifiedMatching +Orphanet:98850 Aggressive systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching +Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref ICD10:C94.3 semapv:UnspecifiedMatching +Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching +Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref MedDRA:10056450 semapv:UnspecifiedMatching +Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref UMLS:C0023461 semapv:UnspecifiedMatching +Orphanet:98851 Mast cell leukemia oboInOwl:hasDbXref icd11:2A21.00 semapv:UnspecifiedMatching +Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref OMIM:263000 semapv:UnspecifiedMatching +Orphanet:98852 Desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS:C0238378 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612998 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:612999 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410190 semapv:UnspecifiedMatching +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C1450051 semapv:UnspecifiedMatching +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537990 semapv:UnspecifiedMatching +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 semapv:UnspecifiedMatching +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref UMLS:C1854154 semapv:UnspecifiedMatching +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching +Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching +Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching +Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref UMLS:C0022521 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D000083143 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0751337 semapv:UnspecifiedMatching +Orphanet:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98865 Homozygous hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98865 Homozygous hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref OMIM:266140 semapv:UnspecifiedMatching +Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref UMLS:C0520739 semapv:UnspecifiedMatching +Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching +Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref OMIM:166900 semapv:UnspecifiedMatching +Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref UMLS:C1862322 semapv:UnspecifiedMatching +Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching +Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching +Orphanet:98869 Congenital dyserythropoietic anemia type I oboInOwl:hasDbXref UMLS:C0271933 semapv:UnspecifiedMatching +Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching +Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:619789 semapv:UnspecifiedMatching +Orphanet:98870 Congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS:C0271934 semapv:UnspecifiedMatching +Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref ICD10:D60.1 semapv:UnspecifiedMatching +Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref ICD10:D60.1 semapv:UnspecifiedMatching +Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref MESH:C536980 semapv:UnspecifiedMatching +Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref OMIM:227050 semapv:UnspecifiedMatching +Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref UMLS:C0238478 semapv:UnspecifiedMatching +Orphanet:98871 Transient erythroblastopenia of childhood oboInOwl:hasDbXref icd11:3A61.0 semapv:UnspecifiedMatching +Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref ICD10:D60.0 semapv:UnspecifiedMatching +Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref ICD10:D60.0 semapv:UnspecifiedMatching +Orphanet:98872 Primary acquired pure red cell aplasia oboInOwl:hasDbXref UMLS:C4707560 semapv:UnspecifiedMatching +Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching +Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching +Orphanet:98873 Congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS:C1306589 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref MESH:D006467 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref MedDRA:10010468 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref UMLS:C0019069 semapv:UnspecifiedMatching +Orphanet:98878 Hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref MESH:D002836 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref MedDRA:10010467 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref UMLS:C0008533 semapv:UnspecifiedMatching +Orphanet:98879 Hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:UnspecifiedMatching +Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching +Orphanet:98880 Familial afibrinogenemia oboInOwl:hasDbXref UMLS:C2584774 semapv:UnspecifiedMatching +Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching +Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching +Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref UMLS:C5681639 semapv:UnspecifiedMatching +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching +Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching +Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching +Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref UMLS:C3280114 semapv:UnspecifiedMatching +Orphanet:98888 X-linked complex spastic paraplegia oboInOwl:hasDbXref UMLS:C5680316 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:300388 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:615752 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:616531 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref UMLS:C1845668 semapv:UnspecifiedMatching +Orphanet:98889 Bilateral perisylvian polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref OMIM:311050 semapv:UnspecifiedMatching +Orphanet:98890 Early-onset X-linked optic atrophy oboInOwl:hasDbXref UMLS:C1839576 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref MESH:D054091 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref MedDRA:10066854 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608097 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608098 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:612881 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:617201 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:618185 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:618918 semapv:UnspecifiedMatching +Orphanet:98892 Periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1868720 semapv:UnspecifiedMatching +Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref MESH:C565748 semapv:UnspecifiedMatching +Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:604801 semapv:UnspecifiedMatching +Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1858118 semapv:UnspecifiedMatching +Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching +Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching +Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref UMLS:C1837229 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref MedDRA:10059117 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:159050 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 semapv:UnspecifiedMatching +Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C0917713 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref MedDRA:10013801 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref OMIM:310200 semapv:UnspecifiedMatching +Orphanet:98896 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS:C0013264 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref MESH:C563508 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:164310 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:618940 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:619473 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref OMIM:619790 semapv:UnspecifiedMatching +Orphanet:98897 Oculopharyngodistal myopathy oboInOwl:hasDbXref UMLS:C1834014 semapv:UnspecifiedMatching +Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching +Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref MESH:C535629 semapv:UnspecifiedMatching +Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref OMIM:103300 semapv:UnspecifiedMatching +Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref UMLS:C0595985 semapv:UnspecifiedMatching +Orphanet:989 Hypoglossia-hypodactyly syndrome oboInOwl:hasDbXref icd11:LD25.0Y semapv:UnspecifiedMatching +Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref OMIM:605355 semapv:UnspecifiedMatching +Orphanet:98902 Amish nemaline myopathy oboInOwl:hasDbXref UMLS:C1854380 semapv:UnspecifiedMatching +Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching +Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref UMLS:C3711389 semapv:UnspecifiedMatching +Orphanet:98904 Congenital myopathy with excess of thin filaments oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref MESH:C564969 semapv:UnspecifiedMatching +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref UMLS:C1850674 semapv:UnspecifiedMatching +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia oboInOwl:hasDbXref icd11:8C72.0Y semapv:UnspecifiedMatching +Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref MESH:C536560 semapv:UnspecifiedMatching +Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref OMIM:275630 semapv:UnspecifiedMatching +Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref UMLS:C0268238 semapv:UnspecifiedMatching +Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref MESH:C565192 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref OMIM:610717 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref UMLS:C1853136 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching +Orphanet:98909 Desminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:98909 Desminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:98909 Desminopathy oboInOwl:hasDbXref MESH:C563319 semapv:UnspecifiedMatching +Orphanet:98909 Desminopathy oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching +Orphanet:98909 Desminopathy oboInOwl:hasDbXref UMLS:C1832370 semapv:UnspecifiedMatching +Orphanet:98910 Alpha-crystallinopathy oboInOwl:hasDbXref UMLS:C5680317 semapv:UnspecifiedMatching +Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching +Orphanet:98911 Distal myotilinopathy oboInOwl:hasDbXref UMLS:C4707358 semapv:UnspecifiedMatching +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref MESH:C563718 semapv:UnspecifiedMatching +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref OMIM:609452 semapv:UnspecifiedMatching +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type oboInOwl:hasDbXref UMLS:C1836155 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:254300 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:601462 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:605809 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:608930 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:608931 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:614198 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616304 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616313 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616314 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616321 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616322 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616323 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616324 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:254210 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616040 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616330 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:617143 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:617239 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618197 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618198 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:618323 semapv:UnspecifiedMatching +Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref UMLS:C0751884 semapv:UnspecifiedMatching +Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching +Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:603034 semapv:UnspecifiedMatching +Orphanet:98915 Synaptic congenital myasthenic syndromes oboInOwl:hasDbXref UMLS:C5681640 semapv:UnspecifiedMatching +Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref OMIM:139393 semapv:UnspecifiedMatching +Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS:C4551910 semapv:UnspecifiedMatching +Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref MedDRA:10076657 semapv:UnspecifiedMatching +Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref UMLS:C3900111 semapv:UnspecifiedMatching +Orphanet:98917 Acute motor and sensory axonal neuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref MedDRA:10076658 semapv:UnspecifiedMatching +Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref UMLS:C3890941 semapv:UnspecifiedMatching +Orphanet:98918 Acute motor axonal neuropathy oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref ICD10:G61.0 semapv:UnspecifiedMatching +Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 semapv:UnspecifiedMatching +Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref MedDRA:10049567 semapv:UnspecifiedMatching +Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref UMLS:C0393799 semapv:UnspecifiedMatching +Orphanet:98919 Miller Fisher syndrome oboInOwl:hasDbXref icd11:8C01.0 semapv:UnspecifiedMatching +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref MESH:C536880 semapv:UnspecifiedMatching +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 oboInOwl:hasDbXref UMLS:C1858517 semapv:UnspecifiedMatching +Orphanet:98922 Blake pouch cyst oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching +Orphanet:98922 Blake pouch cyst oboInOwl:hasDbXref UMLS:C3662124 semapv:UnspecifiedMatching +Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching +Orphanet:98933 Multiple system atrophy, parkinsonian type oboInOwl:hasDbXref UMLS:C5554235 semapv:UnspecifiedMatching +Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching +Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref MESH:C564708 semapv:UnspecifiedMatching +Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref OMIM:606438 semapv:UnspecifiedMatching +Orphanet:98934 Huntington disease-like 2 oboInOwl:hasDbXref UMLS:C1847987 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:251505 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:300345 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:605738 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:610092 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:611638 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:613703 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:614497 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:615145 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref OMIM:616428 semapv:UnspecifiedMatching +Orphanet:98938 Colobomatous microphthalmia oboInOwl:hasDbXref UMLS:C4255043 semapv:UnspecifiedMatching +Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching +Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching +Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching +Orphanet:98942 Coloboma of choroid and retina oboInOwl:hasDbXref UMLS:C4708599 semapv:UnspecifiedMatching +Orphanet:98943 Coloboma of eye lens oboInOwl:hasDbXref ICD10:Q12.2 semapv:UnspecifiedMatching +Orphanet:98943 Coloboma of eye lens oboInOwl:hasDbXref UMLS:C0344516 semapv:UnspecifiedMatching +Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref ICD10:Q13.0 semapv:UnspecifiedMatching +Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref MedDRA:10052642 semapv:UnspecifiedMatching +Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching +Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref UMLS:C0266551 semapv:UnspecifiedMatching +Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref icd11:LA11.4 semapv:UnspecifiedMatching +Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching +Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching +Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref MESH:C535968 semapv:UnspecifiedMatching +Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref OMIM:120300 semapv:UnspecifiedMatching +Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref UMLS:C1852767 semapv:UnspecifiedMatching +Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref icd11:LA13.2 semapv:UnspecifiedMatching +Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref UMLS:C0521573 semapv:UnspecifiedMatching +Orphanet:98947 Coloboma of optic disc oboInOwl:hasDbXref ICD10:Q14.2 semapv:UnspecifiedMatching +Orphanet:98947 Coloboma of optic disc oboInOwl:hasDbXref UMLS:C0155299 semapv:UnspecifiedMatching +Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref UMLS:C0152454 semapv:UnspecifiedMatching +Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching +Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching +Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref UMLS:C5681641 semapv:UnspecifiedMatching +Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:98951 Inverse Marcus-Gunn phenomenon oboInOwl:hasDbXref UMLS:C5548210 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref MESH:D053559 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:122100 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIM:618767 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS:C0339277 semapv:UnspecifiedMatching +Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref MESH:C567588 semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:300778 semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749050 semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref MESH:C535477 semapv:UnspecifiedMatching +Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref OMIM:121820 semapv:UnspecifiedMatching +Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref UMLS:C0521723 semapv:UnspecifiedMatching +Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching +Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching +Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS:C0339273 semapv:UnspecifiedMatching +Orphanet:98957 Gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref ICD10:H18.4 semapv:UnspecifiedMatching +Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref UMLS:C0339300 semapv:UnspecifiedMatching +Orphanet:98958 Climatic droplet keratopathy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref MESH:C567547 semapv:UnspecifiedMatching +Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 semapv:UnspecifiedMatching +Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748503 semapv:UnspecifiedMatching +Orphanet:98959 Subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 semapv:UnspecifiedMatching +Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 semapv:UnspecifiedMatching +Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS:C1562894 semapv:UnspecifiedMatching +Orphanet:98960 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 semapv:UnspecifiedMatching +Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 semapv:UnspecifiedMatching +Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref UMLS:C0339278 semapv:UnspecifiedMatching +Orphanet:98961 Reis-Bücklers corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref MESH:C537304 semapv:UnspecifiedMatching +Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref OMIM:121900 semapv:UnspecifiedMatching +Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1641846 semapv:UnspecifiedMatching +Orphanet:98962 Granular corneal dystrophy type I oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref MESH:C535474 semapv:UnspecifiedMatching +Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref OMIM:607541 semapv:UnspecifiedMatching +Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref UMLS:C1275685 semapv:UnspecifiedMatching +Orphanet:98963 Granular corneal dystrophy type II oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref MESH:C537881 semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:122200 semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref OMIM:608471 semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref UMLS:C1690006 semapv:UnspecifiedMatching +Orphanet:98964 Lattice corneal dystrophy type I oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv:UnspecifiedMatching +Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching +Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 semapv:UnspecifiedMatching +Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98968 Central discoid corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref MedDRA:10025406 semapv:UnspecifiedMatching +Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 semapv:UnspecifiedMatching +Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref UMLS:C0024439 semapv:UnspecifiedMatching +Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref MESH:C563256 semapv:UnspecifiedMatching +Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 semapv:UnspecifiedMatching +Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS:C1562113 semapv:UnspecifiedMatching +Orphanet:98970 Fleck corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref MESH:C567546 semapv:UnspecifiedMatching +Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref OMIM:612868 semapv:UnspecifiedMatching +Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C2748502 semapv:UnspecifiedMatching +Orphanet:98971 Posterior amorphous corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref MESH:C563262 semapv:UnspecifiedMatching +Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref OMIM:217600 semapv:UnspecifiedMatching +Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref UMLS:C1622427 semapv:UnspecifiedMatching +Orphanet:98972 Central cloudy dystrophy of François oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609140 semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:609141 semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIM:618031 semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref UMLS:C0339284 semapv:UnspecifiedMatching +Orphanet:98973 Posterior polymorphous corneal dystrophy oboInOwl:hasDbXref icd11:LA11.5 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref MESH:D005642 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:136800 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:610158 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613267 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613268 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613269 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613270 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:613271 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:615523 semapv:UnspecifiedMatching +Orphanet:98974 Fuchs endothelial corneal dystrophy oboInOwl:hasDbXref UMLS:C0016781 semapv:UnspecifiedMatching +Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching +Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref OMIM:122000 semapv:UnspecifiedMatching +Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref UMLS:C1562945 semapv:UnspecifiedMatching +Orphanet:98975 Congenital hereditary endothelial dystrophy type I oboInOwl:hasDbXref icd11:LA11.5 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:600975 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613085 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:613086 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref OMIM:617272 semapv:UnspecifiedMatching +Orphanet:98976 Congenital glaucoma oboInOwl:hasDbXref UMLS:C0020302 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref MedDRA:10064032 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608695 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:608696 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching +Orphanet:98977 Juvenile glaucoma oboInOwl:hasDbXref UMLS:C2981140 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref ICD10:Q15.0 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref MedDRA:10058653 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching +Orphanet:98978 Axenfeld anomaly oboInOwl:hasDbXref UMLS:C0266548 semapv:UnspecifiedMatching +Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref MedDRA:10057487 semapv:UnspecifiedMatching +Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref UMLS:C0544008 semapv:UnspecifiedMatching +Orphanet:98979 Chandler syndrome oboInOwl:hasDbXref icd11:LA11.Y semapv:UnspecifiedMatching +Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref MedDRA:10059200 semapv:UnspecifiedMatching +Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref UMLS:C1168173 semapv:UnspecifiedMatching +Orphanet:98980 Cogan-Reese syndrome oboInOwl:hasDbXref icd11:LA11.Y semapv:UnspecifiedMatching +Orphanet:98981 Essential iris atrophy oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98981 Essential iris atrophy oboInOwl:hasDbXref ICD10:H21.2 semapv:UnspecifiedMatching +Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref MESH:C563426 semapv:UnspecifiedMatching +Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching +Orphanet:98984 Pulverulent cataract oboInOwl:hasDbXref UMLS:C1833118 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref MESH:C565301 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching +Orphanet:98985 Early-onset sutural cataract oboInOwl:hasDbXref UMLS:C1854021 semapv:UnspecifiedMatching +Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref MESH:C538282 semapv:UnspecifiedMatching +Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching +Orphanet:98988 Early-onset anterior polar cataract oboInOwl:hasDbXref UMLS:C1855179 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref MESH:C537955 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching +Orphanet:98989 Cerulean cataract oboInOwl:hasDbXref UMLS:C0344523 semapv:UnspecifiedMatching +Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching +Orphanet:98990 Coralliform cataract oboInOwl:hasDbXref UMLS:C1392104 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching +Orphanet:98991 Early-onset nuclear cataract oboInOwl:hasDbXref UMLS:C5681644 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching +Orphanet:98992 Early-onset partial cataract oboInOwl:hasDbXref UMLS:C5681643 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref OMIM:619593 semapv:UnspecifiedMatching +Orphanet:98993 Early-onset posterior polar cataract oboInOwl:hasDbXref UMLS:C0858617 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref MESH:C535341 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref OMIM:618415 semapv:UnspecifiedMatching +Orphanet:98994 Total early-onset cataract oboInOwl:hasDbXref UMLS:C0266539 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref MESH:C535342 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching +Orphanet:98995 Early-onset zonular cataract oboInOwl:hasDbXref UMLS:C5681642 semapv:UnspecifiedMatching +Orphanet:99 Autosomal dominant cerebellar ataxia oboInOwl:hasDbXref UMLS:C4087347 semapv:UnspecifiedMatching +Orphanet:99 Autosomal dominant cerebellar ataxia oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref OMIM:202650 semapv:UnspecifiedMatching +Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome oboInOwl:hasDbXref UMLS:C4302678 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:153840 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:608161 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616151 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref OMIM:616152 semapv:UnspecifiedMatching +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy oboInOwl:hasDbXref UMLS:C1842914 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:169150 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:608970 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching +Orphanet:99001 Butterfly-shaped pigment dystrophy oboInOwl:hasDbXref UMLS:C4511237 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref MESH:C566721 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:179840 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:267800 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref OMIM:617175 semapv:UnspecifiedMatching +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium oboInOwl:hasDbXref UMLS:C1867332 semapv:UnspecifiedMatching +Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus oboInOwl:hasDbXref UMLS:C4509881 semapv:UnspecifiedMatching +Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99004 Fundus pulverulentus oboInOwl:hasDbXref UMLS:C4749286 semapv:UnspecifiedMatching +Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref MESH:C580457 semapv:UnspecifiedMatching +Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref OMIM:607259 semapv:UnspecifiedMatching +Orphanet:99013 Spastic paraplegia type 7 oboInOwl:hasDbXref UMLS:C3711370 semapv:UnspecifiedMatching +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref OMIM:311070 semapv:UnspecifiedMatching +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref UMLS:C1839566 semapv:UnspecifiedMatching +Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref MESH:C536857 semapv:UnspecifiedMatching +Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref OMIM:312920 semapv:UnspecifiedMatching +Orphanet:99015 Spastic paraplegia type 2 oboInOwl:hasDbXref UMLS:C1839264 semapv:UnspecifiedMatching +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref MESH:C566813 semapv:UnspecifiedMatching +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref OMIM:169500 semapv:UnspecifiedMatching +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref UMLS:C1868512 semapv:UnspecifiedMatching +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy oboInOwl:hasDbXref icd11:8A44.1 semapv:UnspecifiedMatching +Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation oboInOwl:hasDbXref ICD10:Q20.3 semapv:UnspecifiedMatching +Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation oboInOwl:hasDbXref UMLS:C5680321 semapv:UnspecifiedMatching +Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching +Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref UMLS:C1956411 semapv:UnspecifiedMatching +Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref UMLS:C1956412 semapv:UnspecifiedMatching +Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref icd11:LA85.20 semapv:UnspecifiedMatching +Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref icd11:LA85.21 semapv:UnspecifiedMatching +Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching +Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C0344644 semapv:UnspecifiedMatching +Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching +Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref UMLS:C5191313 semapv:UnspecifiedMatching +Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus oboInOwl:hasDbXref UMLS:C3163916 semapv:UnspecifiedMatching +Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta oboInOwl:hasDbXref UMLS:C5680322 semapv:UnspecifiedMatching +Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching +Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching +Orphanet:99051 Discrete fixed membranous subaortic stenosis oboInOwl:hasDbXref UMLS:C5681646 semapv:UnspecifiedMatching +Orphanet:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching +Orphanet:99052 Discrete fibromuscular subaortic stenosis oboInOwl:hasDbXref UMLS:C5681645 semapv:UnspecifiedMatching +Orphanet:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching +Orphanet:99053 Tunnel subaortic stenosis oboInOwl:hasDbXref UMLS:C5681647 semapv:UnspecifiedMatching +Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref ICD10:Q22.1 semapv:UnspecifiedMatching +Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching +Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref MedDRA:10037450 semapv:UnspecifiedMatching +Orphanet:99054 Valvular pulmonary stenosis oboInOwl:hasDbXref UMLS:C1860336 semapv:UnspecifiedMatching +Orphanet:99055 Congenital anomaly of the tricuspid valve chordae oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:99055 Congenital anomaly of the tricuspid valve chordae oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:99055 Congenital anomaly of the tricuspid valve chordae oboInOwl:hasDbXref UMLS:C3165162 semapv:UnspecifiedMatching +Orphanet:99056 Parachute tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:99056 Parachute tricuspid valve oboInOwl:hasDbXref ICD10:Q22.8 semapv:UnspecifiedMatching +Orphanet:99056 Parachute tricuspid valve oboInOwl:hasDbXref UMLS:C0344755 semapv:UnspecifiedMatching +Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching +Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref UMLS:C0158618 semapv:UnspecifiedMatching +Orphanet:99057 Congenital mitral stenosis oboInOwl:hasDbXref icd11:LA87.11 semapv:UnspecifiedMatching +Orphanet:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching +Orphanet:99058 Hypoplasia of the mitral valve annulus oboInOwl:hasDbXref UMLS:C3165203 semapv:UnspecifiedMatching +Orphanet:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref ICD10:Q23.2 semapv:UnspecifiedMatching +Orphanet:99059 Congenital supravalvular mitral ring oboInOwl:hasDbXref UMLS:C5681648 semapv:UnspecifiedMatching +Orphanet:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching +Orphanet:99060 Congenital unguarded mitral orifice oboInOwl:hasDbXref UMLS:C0344769 semapv:UnspecifiedMatching +Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:99061 Accessory mitral valve tissue oboInOwl:hasDbXref UMLS:C5681649 semapv:UnspecifiedMatching +Orphanet:99062 Mitral valve agenesis oboInOwl:hasDbXref ICD10:Q23.3 semapv:UnspecifiedMatching +Orphanet:99062 Mitral valve agenesis oboInOwl:hasDbXref UMLS:C0685721 semapv:UnspecifiedMatching +Orphanet:99063 Shone complex oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:99063 Shone complex oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:99063 Shone complex oboInOwl:hasDbXref MedDRA:10066802 semapv:UnspecifiedMatching +Orphanet:99063 Shone complex oboInOwl:hasDbXref UMLS:C1868705 semapv:UnspecifiedMatching +Orphanet:99063 Shone complex oboInOwl:hasDbXref icd11:LA88.Y semapv:UnspecifiedMatching +Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching +Orphanet:99064 Straddling and/or overriding mitral valve oboInOwl:hasDbXref UMLS:C5681625 semapv:UnspecifiedMatching +Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching +Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia oboInOwl:hasDbXref UMLS:C5680290 semapv:UnspecifiedMatching +Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching +Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref icd11:LA87.45 semapv:UnspecifiedMatching +Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref UMLS:C0345055 semapv:UnspecifiedMatching +Orphanet:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99071 Aorto-left ventricular tunnel oboInOwl:hasDbXref UMLS:C0345054 semapv:UnspecifiedMatching +Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching +Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching +Orphanet:99072 Congenital patent ductus arteriosus aneurysm oboInOwl:hasDbXref UMLS:C4706391 semapv:UnspecifiedMatching +Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99075 Encircling double aortic arch oboInOwl:hasDbXref UMLS:C4706940 semapv:UnspecifiedMatching +Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref UMLS:C0345066 semapv:UnspecifiedMatching +Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref UMLS:C0265885 semapv:UnspecifiedMatching +Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref UMLS:C4707820 semapv:UnspecifiedMatching +Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99079 Cervical aortic arch oboInOwl:hasDbXref UMLS:C0345065 semapv:UnspecifiedMatching +Orphanet:99081 Right aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99081 Right aortic arch oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99081 Right aortic arch oboInOwl:hasDbXref MedDRA:10067407 semapv:UnspecifiedMatching +Orphanet:99081 Right aortic arch oboInOwl:hasDbXref UMLS:C0035615 semapv:UnspecifiedMatching +Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref UMLS:C0267073 semapv:UnspecifiedMatching +Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref UMLS:C0265910 semapv:UnspecifiedMatching +Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching +Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching +Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref UMLS:C3531782 semapv:UnspecifiedMatching +Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref UMLS:C5575847 semapv:UnspecifiedMatching +Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99089 Abnormal number of coronary ostia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:99089 Abnormal number of coronary ostia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:99089 Abnormal number of coronary ostia oboInOwl:hasDbXref UMLS:C5191081 semapv:UnspecifiedMatching +Orphanet:99090 Malposition of a coronary ostium oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:99090 Malposition of a coronary ostium oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching +Orphanet:99090 Malposition of a coronary ostium oboInOwl:hasDbXref UMLS:C3532077 semapv:UnspecifiedMatching +Orphanet:99092 Interventricular septum aneurysm oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:99092 Interventricular septum aneurysm oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:99092 Interventricular septum aneurysm oboInOwl:hasDbXref MESH:C563239 semapv:UnspecifiedMatching +Orphanet:99092 Interventricular septum aneurysm oboInOwl:hasDbXref OMIM:105805 semapv:UnspecifiedMatching +Orphanet:99092 Interventricular septum aneurysm oboInOwl:hasDbXref UMLS:C1387721 semapv:UnspecifiedMatching +Orphanet:99094 Laubry-Pezzi syndrome oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:99094 Laubry-Pezzi syndrome oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:99094 Laubry-Pezzi syndrome oboInOwl:hasDbXref UMLS:C4707235 semapv:UnspecifiedMatching +Orphanet:99095 Congenital Gerbode defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:99095 Congenital Gerbode defect oboInOwl:hasDbXref ICD10:Q21.0 semapv:UnspecifiedMatching +Orphanet:99095 Congenital Gerbode defect oboInOwl:hasDbXref UMLS:C0344947 semapv:UnspecifiedMatching +Orphanet:99098 Cor triatriatum dexter oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching +Orphanet:99098 Cor triatriatum dexter oboInOwl:hasDbXref UMLS:C0344697 semapv:UnspecifiedMatching +Orphanet:99099 Cor triatriatum sinister oboInOwl:hasDbXref ICD10:Q24.2 semapv:UnspecifiedMatching +Orphanet:99099 Cor triatriatum sinister oboInOwl:hasDbXref UMLS:C0344712 semapv:UnspecifiedMatching +Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref OMIM:202660 semapv:UnspecifiedMatching +Orphanet:991 PAGOD syndrome oboInOwl:hasDbXref UMLS:C1859967 semapv:UnspecifiedMatching +Orphanet:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99100 Juxtaposition of the atrial appendages oboInOwl:hasDbXref UMLS:C1290478 semapv:UnspecifiedMatching +Orphanet:99101 Ectasia of the right atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99101 Ectasia of the right atrial appendage oboInOwl:hasDbXref UMLS:C4749283 semapv:UnspecifiedMatching +Orphanet:99102 Ectasia of the left atrial appendage oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching +Orphanet:99102 Ectasia of the left atrial appendage oboInOwl:hasDbXref UMLS:C4749282 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref MedDRA:10031303 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching +Orphanet:99103 Atrial septal defect, ostium secundum type oboInOwl:hasDbXref UMLS:C0344724 semapv:UnspecifiedMatching +Orphanet:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99104 Atrial septal defect, coronary sinus type oboInOwl:hasDbXref UMLS:C0344733 semapv:UnspecifiedMatching +Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref MESH:C548009 semapv:UnspecifiedMatching +Orphanet:99105 Atrial septal defect, sinus venosus type oboInOwl:hasDbXref UMLS:C0344730 semapv:UnspecifiedMatching +Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching +Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref MESH:C548006 semapv:UnspecifiedMatching +Orphanet:99106 Atrial septal defect, ostium primum type oboInOwl:hasDbXref UMLS:C5680294 semapv:UnspecifiedMatching +Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref UMLS:C0521533 semapv:UnspecifiedMatching +Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref icd11:LA8E.Y semapv:UnspecifiedMatching +Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching +Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref UMLS:C5680293 semapv:UnspecifiedMatching +Orphanet:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99110 Right superior vena cava connecting to left-sided atrium oboInOwl:hasDbXref UMLS:C0344658 semapv:UnspecifiedMatching +Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching +Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium oboInOwl:hasDbXref UMLS:C5680292 semapv:UnspecifiedMatching +Orphanet:99112 Absence of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99112 Absence of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99112 Absence of innominate vein oboInOwl:hasDbXref UMLS:C4707656 semapv:UnspecifiedMatching +Orphanet:99113 Subaortic course of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99113 Subaortic course of innominate vein oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99113 Subaortic course of innominate vein oboInOwl:hasDbXref UMLS:C4707821 semapv:UnspecifiedMatching +Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref UMLS:C0265929 semapv:UnspecifiedMatching +Orphanet:99114 Agenesis of the superior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref UMLS:C0344684 semapv:UnspecifiedMatching +Orphanet:99117 Coronary sinus stenosis oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching +Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref UMLS:C0344683 semapv:UnspecifiedMatching +Orphanet:99118 Coronary sinus atresia oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99119 Right inferior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99119 Right inferior vena cava connecting to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99119 Right inferior vena cava connecting to left-sided atrium oboInOwl:hasDbXref UMLS:C3164330 semapv:UnspecifiedMatching +Orphanet:99120 Persistent eustachian valve oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99120 Persistent eustachian valve oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99120 Persistent eustachian valve oboInOwl:hasDbXref UMLS:C5190784 semapv:UnspecifiedMatching +Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref UMLS:C1859772 semapv:UnspecifiedMatching +Orphanet:99121 Azygos continuation of the inferior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref ICD10:Q26.0 semapv:UnspecifiedMatching +Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref UMLS:C0265934 semapv:UnspecifiedMatching +Orphanet:99122 Congenital stenosis of the inferior vena cava oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99123 Inferior vena cava interruption without azygos continuation oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99123 Inferior vena cava interruption without azygos continuation oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99123 Inferior vena cava interruption without azygos continuation oboInOwl:hasDbXref UMLS:C5680291 semapv:UnspecifiedMatching +Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching +Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching +Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C0158634 semapv:UnspecifiedMatching +Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref icd11:LA86.21 semapv:UnspecifiedMatching +Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.2 semapv:UnspecifiedMatching +Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching +Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C5681626 semapv:UnspecifiedMatching +Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref icd11:LA86.20 semapv:UnspecifiedMatching +Orphanet:99126 Congenital pulmonary vein atresia oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching +Orphanet:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref UMLS:C0345140 semapv:UnspecifiedMatching +Orphanet:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref icd11:LA8D semapv:UnspecifiedMatching +Orphanet:99130 Congenital partial agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:99130 Congenital partial agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:99130 Congenital partial agenesis of pericardium oboInOwl:hasDbXref UMLS:C0345139 semapv:UnspecifiedMatching +Orphanet:99130 Congenital partial agenesis of pericardium oboInOwl:hasDbXref icd11:LA8D semapv:UnspecifiedMatching +Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching +Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref UMLS:C5681627 semapv:UnspecifiedMatching +Orphanet:99131 Pleuro-pericardial cyst oboInOwl:hasDbXref icd11:LA8D semapv:UnspecifiedMatching +Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching +Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:619199 semapv:UnspecifiedMatching +Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C5543091 semapv:UnspecifiedMatching +Orphanet:99135 6-phosphogluconate dehydrogenase deficiency oboInOwl:hasDbXref icd11:3A10.0Y semapv:UnspecifiedMatching +Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref ICD10:D55.3 semapv:UnspecifiedMatching +Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref UMLS:C0340960 semapv:UnspecifiedMatching +Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction oboInOwl:hasDbXref icd11:3A10.1 semapv:UnspecifiedMatching +Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching +Orphanet:99139 Unstable hemoglobin disease oboInOwl:hasDbXref UMLS:C0272006 semapv:UnspecifiedMatching +Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching +Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref OMIM:613611 semapv:UnspecifiedMatching +Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref UMLS:C3150875 semapv:UnspecifiedMatching +Orphanet:99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching +Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref MedDRA:10069495 semapv:UnspecifiedMatching +Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS:C0272362 semapv:UnspecifiedMatching +Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching +Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching +Orphanet:99169 Epiblepharon oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99169 Epiblepharon oboInOwl:hasDbXref MedDRA:10056531 semapv:UnspecifiedMatching +Orphanet:99169 Epiblepharon oboInOwl:hasDbXref UMLS:C0344503 semapv:UnspecifiedMatching +Orphanet:99169 Epiblepharon oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching +Orphanet:99170 Tarsal kink syndrome oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99170 Tarsal kink syndrome oboInOwl:hasDbXref UMLS:C5681629 semapv:UnspecifiedMatching +Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching +Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref UMLS:C5681630 semapv:UnspecifiedMatching +Orphanet:99171 Isolated congenital ectropion oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching +Orphanet:99172 Euryblepharon oboInOwl:hasDbXref ICD10:Q10.1 semapv:UnspecifiedMatching +Orphanet:99172 Euryblepharon oboInOwl:hasDbXref UMLS:C1303001 semapv:UnspecifiedMatching +Orphanet:99172 Euryblepharon oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching +Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref UMLS:C4274470 semapv:UnspecifiedMatching +Orphanet:99176 Congenital eyelid retraction oboInOwl:hasDbXref icd11:LA14.05 semapv:UnspecifiedMatching +Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching +Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref MedDRA:10066128 semapv:UnspecifiedMatching +Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref OMIM:126300 semapv:UnspecifiedMatching +Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref UMLS:C0423848 semapv:UnspecifiedMatching +Orphanet:99177 Isolated distichiasis oboInOwl:hasDbXref icd11:LA14.0Y semapv:UnspecifiedMatching +Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref MESH:C562701 semapv:UnspecifiedMatching +Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref OMIM:228990 semapv:UnspecifiedMatching +Orphanet:99179 Kandori fleck retina oboInOwl:hasDbXref UMLS:C0271257 semapv:UnspecifiedMatching +Orphanet:99226 Monosomy X oboInOwl:hasDbXref ICD10:Q96.9 semapv:UnspecifiedMatching +Orphanet:99226 Monosomy X oboInOwl:hasDbXref icd11:LD50.00 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.3 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref ICD10:Q96.4 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref UMLS:C5681628 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref icd11:LD50.03 semapv:UnspecifiedMatching +Orphanet:99228 Mosaic monosomy X oboInOwl:hasDbXref icd11:LD50.04 semapv:UnspecifiedMatching +Orphanet:99324 Paternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:99324 Paternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching +Orphanet:99324 Paternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref UMLS:C4722326 semapv:UnspecifiedMatching +Orphanet:99324 Paternal uniparental disomy of chromosome 13 oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching +Orphanet:99329 48,XYYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:99329 48,XYYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:99329 48,XYYY syndrome oboInOwl:hasDbXref UMLS:C4518082 semapv:UnspecifiedMatching +Orphanet:99330 49,XYYYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:99330 49,XYYYY syndrome oboInOwl:hasDbXref ICD10:Q98.8 semapv:UnspecifiedMatching +Orphanet:99330 49,XYYYY syndrome oboInOwl:hasDbXref UMLS:C4518342 semapv:UnspecifiedMatching +Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref ICD10:C73 semapv:UnspecifiedMatching +Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536911 semapv:UnspecifiedMatching +Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref MedDRA:10073153 semapv:UnspecifiedMatching +Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref OMIM:155240 semapv:UnspecifiedMatching +Orphanet:99361 Familial medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1833921 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref MESH:C536647 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:208150 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:300073 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618388 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618389 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618393 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref OMIM:618975 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref UMLS:C1276035 semapv:UnspecifiedMatching +Orphanet:994 Fetal akinesia deformation sequence oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:99408 Pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:99408 Pituitary adenoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching +Orphanet:99408 Pituitary adenoma oboInOwl:hasDbXref MedDRA:10035079 semapv:UnspecifiedMatching +Orphanet:99408 Pituitary adenoma oboInOwl:hasDbXref UMLS:C0032000 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref ICD10:Q96.1 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref ICD10:Q96.2 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref UMLS:C5681631 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref icd11:LD50.01 semapv:UnspecifiedMatching +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies oboInOwl:hasDbXref icd11:LD50.02 semapv:UnspecifiedMatching +Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching +Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref ICD10:E34.5 semapv:UnspecifiedMatching +Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:300068 semapv:UnspecifiedMatching +Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0936016 semapv:UnspecifiedMatching +Orphanet:99429 Complete androgen insensitivity syndrome oboInOwl:hasDbXref icd11:LD2A.4 semapv:UnspecifiedMatching +Orphanet:995 X-linked fetal akinesia syndrome oboInOwl:hasDbXref UMLS:C1848171 semapv:UnspecifiedMatching +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref OMIM:613343 semapv:UnspecifiedMatching +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref UMLS:C3150545 semapv:UnspecifiedMatching +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1300227 semapv:UnspecifiedMatching +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:614875 semapv:UnspecifiedMatching +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C3553958 semapv:UnspecifiedMatching +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref UMLS:C4510810 semapv:UnspecifiedMatching +Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching +Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref MESH:C538006 semapv:UnspecifiedMatching +Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref OMIM:224500 semapv:UnspecifiedMatching +Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref UMLS:C1857093 semapv:UnspecifiedMatching +Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.0 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.0 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.1 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.1 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.2 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.2 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.3 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.3 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.4 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.4 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.5 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.5 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching +Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.7 semapv:UnspecifiedMatching +Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching +Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref UMLS:C0406715 semapv:UnspecifiedMatching +Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref UMLS:C0795919 semapv:UnspecifiedMatching +Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref UMLS:C4749367 semapv:UnspecifiedMatching +Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome oboInOwl:hasDbXref UMLS:C3151303 semapv:UnspecifiedMatching +Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching +Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref UMLS:C5681635 semapv:UnspecifiedMatching +Orphanet:99715 MASS syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching +Orphanet:99715 MASS syndrome oboInOwl:hasDbXref MESH:C536030 semapv:UnspecifiedMatching +Orphanet:99715 MASS syndrome oboInOwl:hasDbXref OMIM:604308 semapv:UnspecifiedMatching +Orphanet:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:99718 Leber plus disease oboInOwl:hasDbXref OMIM:165200 semapv:UnspecifiedMatching +Orphanet:99718 Leber plus disease oboInOwl:hasDbXref OMIM:500001 semapv:UnspecifiedMatching +Orphanet:99718 Leber plus disease oboInOwl:hasDbXref UMLS:C4304725 semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref ICD10:E22.0 semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref MESH:D005877 semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref MedDRA:10018265 semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching +Orphanet:99725 Pituitary gigantism oboInOwl:hasDbXref UMLS:C0017547 semapv:UnspecifiedMatching +Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref MESH:C538141 semapv:UnspecifiedMatching +Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching +Orphanet:99731 Isolated sulfite oxidase deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref MESH:C535811 semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching +Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching +Orphanet:99734 Myotonia fluctuans oboInOwl:hasDbXref UMLS:C0752355 semapv:UnspecifiedMatching +Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:99735 Myotonia permanens oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching +Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching +Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref OMIM:608390 semapv:UnspecifiedMatching +Orphanet:99736 Acetazolamide-responsive myotonia oboInOwl:hasDbXref UMLS:C4275008 semapv:UnspecifiedMatching +Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D024741 semapv:UnspecifiedMatching +Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680311 semapv:UnspecifiedMatching +Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref MESH:C536883 semapv:UnspecifiedMatching +Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref OMIM:619542 semapv:UnspecifiedMatching +Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref UMLS:C1840365 semapv:UnspecifiedMatching +Orphanet:99741 King-Denborough syndrome oboInOwl:hasDbXref icd11:8C72.Y semapv:UnspecifiedMatching +Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching +Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref MESH:C538247 semapv:UnspecifiedMatching +Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref OMIM:607196 semapv:UnspecifiedMatching +Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref UMLS:C1846648 semapv:UnspecifiedMatching +Orphanet:99742 Amish lethal microcephaly oboInOwl:hasDbXref icd11:LA05.0 semapv:UnspecifiedMatching +Orphanet:99745 Typhoid oboInOwl:hasDbXref ICD10:A01.0 semapv:UnspecifiedMatching +Orphanet:99745 Typhoid oboInOwl:hasDbXref MESH:D014435 semapv:UnspecifiedMatching +Orphanet:99745 Typhoid oboInOwl:hasDbXref UMLS:C0041466 semapv:UnspecifiedMatching +Orphanet:99748 Pontiac fever oboInOwl:hasDbXref ICD10:A48.2 semapv:UnspecifiedMatching +Orphanet:99748 Pontiac fever oboInOwl:hasDbXref MedDRA:10054161 semapv:UnspecifiedMatching +Orphanet:99748 Pontiac fever oboInOwl:hasDbXref UMLS:C0343528 semapv:UnspecifiedMatching +Orphanet:99748 Pontiac fever oboInOwl:hasDbXref icd11:1C19.0 semapv:UnspecifiedMatching +Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref MESH:C537592 semapv:UnspecifiedMatching +Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref OMIM:610738 semapv:UnspecifiedMatching +Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref UMLS:C5235141 semapv:UnspecifiedMatching +Orphanet:99749 Kostmann syndrome oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref MESH:C537240 semapv:UnspecifiedMatching +Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:99750 Atypical progressive supranuclear palsy syndrome oboInOwl:hasDbXref UMLS:C5548371 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10065867 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching +Orphanet:99756 Alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206655 semapv:UnspecifiedMatching +Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018233 semapv:UnspecifiedMatching +Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref MedDRA:10065868 semapv:UnspecifiedMatching +Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching +Orphanet:99757 Embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206656 semapv:UnspecifiedMatching +Orphanet:99771 Bifid uvula oboInOwl:hasDbXref ICD10:Q35.7 semapv:UnspecifiedMatching +Orphanet:99771 Bifid uvula oboInOwl:hasDbXref ICD10:Q35.7 semapv:UnspecifiedMatching +Orphanet:99771 Bifid uvula oboInOwl:hasDbXref UMLS:C4551488 semapv:UnspecifiedMatching +Orphanet:99772 Cleft velum oboInOwl:hasDbXref ICD10:Q35.3 semapv:UnspecifiedMatching +Orphanet:99772 Cleft velum oboInOwl:hasDbXref MESH:C562950 semapv:UnspecifiedMatching +Orphanet:99772 Cleft velum oboInOwl:hasDbXref OMIM:119570 semapv:UnspecifiedMatching +Orphanet:99772 Cleft velum oboInOwl:hasDbXref UMLS:C0432098 semapv:UnspecifiedMatching +Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching +Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref MESH:C535454 semapv:UnspecifiedMatching +Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref UMLS:C2930908 semapv:UnspecifiedMatching +Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref MESH:C536009 semapv:UnspecifiedMatching +Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching +Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref MESH:C538215 semapv:UnspecifiedMatching +Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref UMLS:C0399379 semapv:UnspecifiedMatching +Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref icd11:LA30.7 semapv:UnspecifiedMatching +Orphanet:99791 Dentin dysplasia type II oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:99791 Dentin dysplasia type II oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:99791 Dentin dysplasia type II oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching +Orphanet:99791 Dentin dysplasia type II oboInOwl:hasDbXref UMLS:C0399380 semapv:UnspecifiedMatching +Orphanet:99791 Dentin dysplasia type II oboInOwl:hasDbXref icd11:LA30.7 semapv:UnspecifiedMatching +Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching +Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref MESH:C538213 semapv:UnspecifiedMatching +Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref OMIM:125440 semapv:UnspecifiedMatching +Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome oboInOwl:hasDbXref UMLS:C4749611 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:300067 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:600348 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching +Orphanet:99796 Subcortical band heterotopia oboInOwl:hasDbXref UMLS:C1848201 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref MedDRA:10002583 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref OMIM:206780 semapv:UnspecifiedMatching +Orphanet:99797 Anodontia oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref MedDRA:10088239 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:106600 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:150400 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:313500 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:604625 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:610926 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:616724 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:617073 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref OMIM:620173 semapv:UnspecifiedMatching +Orphanet:99798 Oligodontia oboInOwl:hasDbXref UMLS:C4082304 semapv:UnspecifiedMatching +Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching +Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref MESH:C537042 semapv:UnspecifiedMatching +Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref OMIM:300700 semapv:UnspecifiedMatching +Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref UMLS:C1845068 semapv:UnspecifiedMatching +Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching +Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching +Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref MESH:D065705 semapv:UnspecifiedMatching +Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref UMLS:C0431391 semapv:UnspecifiedMatching +Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref icd11:LA05.1 semapv:UnspecifiedMatching +Orphanet:99803 Haddad syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching +Orphanet:99803 Haddad syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching +Orphanet:99803 Haddad syndrome oboInOwl:hasDbXref OMIM:209880 semapv:UnspecifiedMatching +Orphanet:99803 Haddad syndrome oboInOwl:hasDbXref UMLS:C1859049 semapv:UnspecifiedMatching +Orphanet:99803 Haddad syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref ICD10:K07.8 semapv:UnspecifiedMatching +Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref ICD10:K07.8 semapv:UnspecifiedMatching +Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:UnspecifiedMatching +Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref UMLS:C2750325 semapv:UnspecifiedMatching +Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching +Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:617507 semapv:UnspecifiedMatching +Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref UMLS:C1850056 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref MESH:C536850 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref UMLS:C1867983 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref icd11:LA05.60 semapv:UnspecifiedMatching +Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching +Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref MESH:C537394 semapv:UnspecifiedMatching +Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref OMIM:243185 semapv:UnspecifiedMatching +Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref UMLS:C1855733 semapv:UnspecifiedMatching +Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching +Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref MESH:C564694 semapv:UnspecifiedMatching +Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref OMIM:606593 semapv:UnspecifiedMatching +Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref UMLS:C1847827 semapv:UnspecifiedMatching +Orphanet:99817 Non-polyposis Turcot syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching +Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching +Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching +Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref UMLS:C5681818 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:E05.8 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref ICD10:O99.2 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref MESH:C566384 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref OMIM:603373 semapv:UnspecifiedMatching +Orphanet:99819 Familial gestational hyperthyroidism oboInOwl:hasDbXref UMLS:C1863959 semapv:UnspecifiedMatching +Orphanet:99824 Lassa fever oboInOwl:hasDbXref ICD10:A96.2 semapv:UnspecifiedMatching +Orphanet:99824 Lassa fever oboInOwl:hasDbXref ICD10:A96.2 semapv:UnspecifiedMatching +Orphanet:99824 Lassa fever oboInOwl:hasDbXref MESH:D007835 semapv:UnspecifiedMatching +Orphanet:99824 Lassa fever oboInOwl:hasDbXref MedDRA:10023927 semapv:UnspecifiedMatching +Orphanet:99824 Lassa fever oboInOwl:hasDbXref UMLS:C0023092 semapv:UnspecifiedMatching +Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref ICD10:A98.8 semapv:UnspecifiedMatching +Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref ICD10:A98.8 semapv:UnspecifiedMatching +Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref UMLS:C1320202 semapv:UnspecifiedMatching +Orphanet:99825 Nipah virus disease oboInOwl:hasDbXref icd11:1D63 semapv:UnspecifiedMatching +Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.3 semapv:UnspecifiedMatching +Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref MESH:D008379 semapv:UnspecifiedMatching +Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref MedDRA:10026822 semapv:UnspecifiedMatching +Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS:C0024788 semapv:UnspecifiedMatching +Orphanet:99826 Marburg hemorrhagic fever oboInOwl:hasDbXref icd11:1D60.1 semapv:UnspecifiedMatching +Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.0 semapv:UnspecifiedMatching +Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.0 semapv:UnspecifiedMatching +Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref MESH:D006479 semapv:UnspecifiedMatching +Orphanet:99827 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS:C0019099 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.0 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.0 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.1 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.1 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.2 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.9 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref ICD10:A97.9 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref MESH:D003715 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref MedDRA:10012310 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref OMIM:614371 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref UMLS:C0011311 semapv:UnspecifiedMatching +Orphanet:99828 Dengue fever oboInOwl:hasDbXref icd11:1D20 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.0 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.0 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.1 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.1 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref ICD10:A95.9 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref MESH:D015004 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref MedDRA:10048240 semapv:UnspecifiedMatching +Orphanet:99829 Yellow fever oboInOwl:hasDbXref UMLS:C0043395 semapv:UnspecifiedMatching +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref OMIM:618573 semapv:UnspecifiedMatching +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome oboInOwl:hasDbXref UMLS:C4511136 semapv:UnspecifiedMatching +Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref MESH:C535887 semapv:UnspecifiedMatching +Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref OMIM:116920 semapv:UnspecifiedMatching +Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref UMLS:C0398738 semapv:UnspecifiedMatching +Orphanet:99842 Leukocyte adhesion deficiency type I oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref MESH:C535755 semapv:UnspecifiedMatching +Orphanet:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref OMIM:266265 semapv:UnspecifiedMatching +Orphanet:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref UMLS:C0398739 semapv:UnspecifiedMatching +Orphanet:99843 Leukocyte adhesion deficiency type II oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching +Orphanet:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref MESH:C567555 semapv:UnspecifiedMatching +Orphanet:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref OMIM:612840 semapv:UnspecifiedMatching +Orphanet:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref UMLS:C2748536 semapv:UnspecifiedMatching +Orphanet:99844 Leukocyte adhesion deficiency type III oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching +Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching +Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:268200 semapv:UnspecifiedMatching +Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref OMIM:550500 semapv:UnspecifiedMatching +Orphanet:99845 Genetic recurrent myoglobinuria oboInOwl:hasDbXref UMLS:C4274324 semapv:UnspecifiedMatching +Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching +Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref ICD10:R82.1 semapv:UnspecifiedMatching +Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref MESH:C563546 semapv:UnspecifiedMatching +Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref OMIM:160010 semapv:UnspecifiedMatching +Orphanet:99846 Autosomal dominant myoglobinuria oboInOwl:hasDbXref UMLS:C1834567 semapv:UnspecifiedMatching +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref OMIM:612932 semapv:UnspecifiedMatching +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref UMLS:C5566614 semapv:UnspecifiedMatching +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref UMLS:C4275006 semapv:UnspecifiedMatching +Orphanet:99852 Ravine syndrome oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching +Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching +Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref UMLS:C1847967 semapv:UnspecifiedMatching +Orphanet:99853 Ovarioleukodystrophy oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching +Orphanet:99854 Cree leukoencephalopathy oboInOwl:hasDbXref icd11:8A44.3 semapv:UnspecifiedMatching +Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching +Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref ICD10:Q06.4 semapv:UnspecifiedMatching +Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref UMLS:C1299627 semapv:UnspecifiedMatching +Orphanet:99856 Primary syringomyelia oboInOwl:hasDbXref icd11:LA07.3 semapv:UnspecifiedMatching +Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching +Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref UMLS:C4749399 semapv:UnspecifiedMatching +Orphanet:99857 Secondary syringomyelia oboInOwl:hasDbXref icd11:8D66.1 semapv:UnspecifiedMatching +Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref ICD10:G95.0 semapv:UnspecifiedMatching +Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref UMLS:C4511700 semapv:UnspecifiedMatching +Orphanet:99858 Idiopathic syringomyelia oboInOwl:hasDbXref icd11:8D66.0 semapv:UnspecifiedMatching +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MedDRA:10066109 semapv:UnspecifiedMatching +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:615545 semapv:UnspecifiedMatching +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0349636 semapv:UnspecifiedMatching +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MESH:D054218 semapv:UnspecifiedMatching +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MedDRA:10066110 semapv:UnspecifiedMatching +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1961099 semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref ICD10:C62.9 semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref MedDRA:10073118 semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching +Orphanet:99865 Spermatocytic seminoma oboInOwl:hasDbXref UMLS:C0334517 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D15.0 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D38.4 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref ICD10:D38.4 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref MESH:D013945 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref MedDRA:10043670 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref OMIM:274230 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref UMLS:C0040100 semapv:UnspecifiedMatching +Orphanet:99867 Thymoma oboInOwl:hasDbXref icd11:2C27.Y semapv:UnspecifiedMatching +Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref MedDRA:10061031 semapv:UnspecifiedMatching +Orphanet:99868 Thymic carcinoma oboInOwl:hasDbXref UMLS:C0205969 semapv:UnspecifiedMatching +Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:99869 Thymic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C2210965 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MESH:C564166 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref MedDRA:10080773 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:600166 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:617343 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref OMIM:618883 semapv:UnspecifiedMatching +Orphanet:99879 Familial isolated hyperparathyroidism oboInOwl:hasDbXref UMLS:C4551961 semapv:UnspecifiedMatching +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref ICD10:E21.0 semapv:UnspecifiedMatching +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref UMLS:C1704981 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618856 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618857 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618858 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C5680384 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:601410 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610374 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610582 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C0342273 semapv:UnspecifiedMatching +Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref icd11:KB60.20 semapv:UnspecifiedMatching +Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching +Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching +Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref UMLS:C0001231 semapv:UnspecifiedMatching +Orphanet:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref ICD10:E24.0 semapv:UnspecifiedMatching +Orphanet:99892 ACTH-dependent Cushing syndrome oboInOwl:hasDbXref UMLS:C0342442 semapv:UnspecifiedMatching +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref MESH:C535530 semapv:UnspecifiedMatching +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref UMLS:C4011949 semapv:UnspecifiedMatching +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:999 Ermine phenotype oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:999 Ermine phenotype oboInOwl:hasDbXref MESH:C535508 semapv:UnspecifiedMatching +Orphanet:999 Ermine phenotype oboInOwl:hasDbXref OMIM:227010 semapv:UnspecifiedMatching +Orphanet:999 Ermine phenotype oboInOwl:hasDbXref UMLS:C1856899 semapv:UnspecifiedMatching +Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535690 semapv:UnspecifiedMatching +Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220711 semapv:UnspecifiedMatching +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref MESH:C567006 semapv:UnspecifiedMatching +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref MedDRA:10081518 semapv:UnspecifiedMatching +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref OMIM:611126 semapv:UnspecifiedMatching +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref UMLS:C1970173 semapv:UnspecifiedMatching +Orphanet:99903 Spirillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.0 semapv:UnspecifiedMatching +Orphanet:99903 Spirillary rat-bite fever oboInOwl:hasDbXref UMLS:C0152062 semapv:UnspecifiedMatching +Orphanet:99905 Streptobacillary rat-bite fever oboInOwl:hasDbXref ICD10:A25.1 semapv:UnspecifiedMatching +Orphanet:99905 Streptobacillary rat-bite fever oboInOwl:hasDbXref icd11:1B90.1 semapv:UnspecifiedMatching +Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref ICD10:J67.0 semapv:UnspecifiedMatching +Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref ICD10:J67.0 semapv:UnspecifiedMatching +Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching +Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref MedDRA:10016221 semapv:UnspecifiedMatching +Orphanet:99906 Farmer's lung disease oboInOwl:hasDbXref UMLS:C0015634 semapv:UnspecifiedMatching +Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref ICD10:J67.8 semapv:UnspecifiedMatching +Orphanet:99907 House allergic alveolitis oboInOwl:hasDbXref UMLS:C4511048 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref ICD10:J67.2 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref ICD10:J67.2 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MESH:D001716 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref MedDRA:10004941 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref OMIM:145300 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref UMLS:C0005592 semapv:UnspecifiedMatching +Orphanet:99908 Pigeon-breeder lung disease oboInOwl:hasDbXref icd11:CA70.2 semapv:UnspecifiedMatching +Orphanet:99909 Occupational allergic alveolitis oboInOwl:hasDbXref UMLS:C5681816 semapv:UnspecifiedMatching +Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref UMLS:C0346185 semapv:UnspecifiedMatching +Orphanet:99912 Ovarian dysgerminoma oboInOwl:hasDbXref icd11:2C73.1 semapv:UnspecifiedMatching +Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C5681817 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D39.1 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref ICD10:D40.1 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref UMLS:C0018413 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref icd11:2F96 semapv:UnspecifiedMatching +Orphanet:99914 Gynandroblastoma oboInOwl:hasDbXref icd11:XH0Q64 semapv:UnspecifiedMatching +Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref MESH:D006106 semapv:UnspecifiedMatching +Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref UMLS:C0334401 semapv:UnspecifiedMatching +Orphanet:99915 Malignant granulosa cell tumor of the ovary oboInOwl:hasDbXref icd11:2C73.2 semapv:UnspecifiedMatching +Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary oboInOwl:hasDbXref UMLS:C5574973 semapv:UnspecifiedMatching +Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching +Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified oboInOwl:hasDbXref UMLS:C4274494 semapv:UnspecifiedMatching +Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching +Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching +Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044251 semapv:UnspecifiedMatching +Orphanet:99918 Streptococcal toxic-shock syndrome oboInOwl:hasDbXref UMLS:C0343532 semapv:UnspecifiedMatching +Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching +Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref ICD10:A48.3 semapv:UnspecifiedMatching +Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref MedDRA:10044250 semapv:UnspecifiedMatching +Orphanet:99919 Staphylococcal toxic-shock syndrome oboInOwl:hasDbXref UMLS:C3714602 semapv:UnspecifiedMatching +Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching +Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref MedDRA:10066260 semapv:UnspecifiedMatching +Orphanet:99920 Acute graft versus host disease oboInOwl:hasDbXref UMLS:C0856825 semapv:UnspecifiedMatching +Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref ICD10:T86.0 semapv:UnspecifiedMatching +Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref MedDRA:10066261 semapv:UnspecifiedMatching +Orphanet:99921 Chronic graft versus host disease oboInOwl:hasDbXref UMLS:C0867389 semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:H13.3* semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:H13.3* semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:L12+ semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref ICD10:L12+ semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref MedDRA:10067776 semapv:UnspecifiedMatching +Orphanet:99922 Ocular cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C1282359 semapv:UnspecifiedMatching +Orphanet:99925 Invasive mole oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching +Orphanet:99925 Invasive mole oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching +Orphanet:99925 Invasive mole oboInOwl:hasDbXref MESH:D002820 semapv:UnspecifiedMatching +Orphanet:99925 Invasive mole oboInOwl:hasDbXref UMLS:C0008493 semapv:UnspecifiedMatching +Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref ICD10:C58 semapv:UnspecifiedMatching +Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref UMLS:C0349557 semapv:UnspecifiedMatching +Orphanet:99926 Gestational choriocarcinoma oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.0 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.1 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.9 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref ICD10:O01.9 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref MESH:D006828 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref MedDRA:10020481 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching +Orphanet:99927 Hydatidiform mole oboInOwl:hasDbXref UMLS:C0020217 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref ICD10:D39.2 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref MESH:D018245 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref UMLS:C0206666 semapv:UnspecifiedMatching +Orphanet:99928 Placental site trophoblastic tumor oboInOwl:hasDbXref icd11:2F96 semapv:UnspecifiedMatching +Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching +Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C4274326 semapv:UnspecifiedMatching +Orphanet:99930 Secondary pulmonary hemosiderosis oboInOwl:hasDbXref icd11:CB05.5 semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching +Orphanet:99931 Idiopathic pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C0020807 semapv:UnspecifiedMatching +Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching +Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching +Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref icd11:CB05.5 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref UMLS:C5681813 semapv:UnspecifiedMatching +Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref UMLS:C5681814 semapv:UnspecifiedMatching +Orphanet:99934 Pleuropulmonary blastoma type 2 oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref ICD10:C34.9 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref UMLS:C5681815 semapv:UnspecifiedMatching +Orphanet:99935 Pleuropulmonary blastoma type 3 oboInOwl:hasDbXref icd11:2C25.Y semapv:UnspecifiedMatching +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref MESH:C537989 semapv:UnspecifiedMatching +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref OMIM:600882 semapv:UnspecifiedMatching +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref UMLS:C1833219 semapv:UnspecifiedMatching +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref MESH:C565261 semapv:UnspecifiedMatching +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref OMIM:606071 semapv:UnspecifiedMatching +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref UMLS:C1853710 semapv:UnspecifiedMatching +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref MESH:C537993 semapv:UnspecifiedMatching +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref OMIM:601472 semapv:UnspecifiedMatching +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref UMLS:C1832274 semapv:UnspecifiedMatching +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref MESH:C537994 semapv:UnspecifiedMatching +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 semapv:UnspecifiedMatching +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref UMLS:C1843225 semapv:UnspecifiedMatching +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref MESH:C535413 semapv:UnspecifiedMatching +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref OMIM:606595 semapv:UnspecifiedMatching +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref UMLS:C1847823 semapv:UnspecifiedMatching +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching +Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref UMLS:C1837805 semapv:UnspecifiedMatching +Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref MESH:C535416 semapv:UnspecifiedMatching +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref OMIM:607677 semapv:UnspecifiedMatching +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref UMLS:C3888087 semapv:UnspecifiedMatching +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref MESH:C535417 semapv:UnspecifiedMatching +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref OMIM:607736 semapv:UnspecifiedMatching +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref UMLS:C1843153 semapv:UnspecifiedMatching +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref MESH:C564325 semapv:UnspecifiedMatching +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref UMLS:C1842984 semapv:UnspecifiedMatching +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref OMIM:608673 semapv:UnspecifiedMatching +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref UMLS:C4304673 semapv:UnspecifiedMatching +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref MESH:C566138 semapv:UnspecifiedMatching +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref OMIM:118210 semapv:UnspecifiedMatching +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref UMLS:C1861678 semapv:UnspecifiedMatching +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref OMIM:609260 semapv:UnspecifiedMatching +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref UMLS:C4721887 semapv:UnspecifiedMatching +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MESH:C535419 semapv:UnspecifiedMatching +Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 semapv:UnspecifiedMatching +Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref UMLS:C1859198 semapv:UnspecifiedMatching +Orphanet:99948 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref MESH:C535423 semapv:UnspecifiedMatching +Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref OMIM:601596 semapv:UnspecifiedMatching +Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref UMLS:C1866636 semapv:UnspecifiedMatching +Orphanet:99949 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref MESH:C535716 semapv:UnspecifiedMatching +Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref OMIM:601455 semapv:UnspecifiedMatching +Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref UMLS:C1832334 semapv:UnspecifiedMatching +Orphanet:99950 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref MESH:C535301 semapv:UnspecifiedMatching +Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref OMIM:605253 semapv:UnspecifiedMatching +Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref UMLS:C4721437 semapv:UnspecifiedMatching +Orphanet:99951 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref OMIM:614895 semapv:UnspecifiedMatching +Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref UMLS:C2608082 semapv:UnspecifiedMatching +Orphanet:99952 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref MESH:C535813 semapv:UnspecifiedMatching +Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref OMIM:605285 semapv:UnspecifiedMatching +Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref UMLS:C1854449 semapv:UnspecifiedMatching +Orphanet:99953 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref MESH:C563740 semapv:UnspecifiedMatching +Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref OMIM:609311 semapv:UnspecifiedMatching +Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref UMLS:C1836336 semapv:UnspecifiedMatching +Orphanet:99954 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MESH:C535420 semapv:UnspecifiedMatching +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref OMIM:601382 semapv:UnspecifiedMatching +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref UMLS:C1832399 semapv:UnspecifiedMatching +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 semapv:UnspecifiedMatching +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 semapv:UnspecifiedMatching +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref UMLS:C1858278 semapv:UnspecifiedMatching +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref icd11:5C58.04 semapv:UnspecifiedMatching +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref UMLS:C2608083 semapv:UnspecifiedMatching +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref icd11:5C58.04 semapv:UnspecifiedMatching +Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching +Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref MedDRA:10069682 semapv:UnspecifiedMatching +Orphanet:99965 O'Sullivan-McLeod syndrome oboInOwl:hasDbXref UMLS:C2721741 semapv:UnspecifiedMatching +Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching +Orphanet:99966 Atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS:C1266184 semapv:UnspecifiedMatching +Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching +Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching +Orphanet:99967 Myxoid/round cell liposarcoma oboInOwl:hasDbXref UMLS:C0206634 semapv:UnspecifiedMatching +Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref MedDRA:10073138 semapv:UnspecifiedMatching +Orphanet:99969 Pleomorphic liposarcoma oboInOwl:hasDbXref UMLS:C0205825 semapv:UnspecifiedMatching +Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref MedDRA:10073135 semapv:UnspecifiedMatching +Orphanet:99970 Dedifferentiated liposarcoma oboInOwl:hasDbXref UMLS:C0205824 semapv:UnspecifiedMatching +Orphanet:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching +Orphanet:99971 Well-differentiated liposarcoma oboInOwl:hasDbXref UMLS:C1370889 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.2 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.5 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref MESH:C562730 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref MedDRA:10030137 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref OMIM:614266 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279628 semapv:UnspecifiedMatching +Orphanet:99976 Adenocarcinoma of the esophagus oboInOwl:hasDbXref icd11:2B70.0 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.0 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.1 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.3 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref ICD10:C15.4 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref MedDRA:10061534 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref OMIM:133239 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref UMLS:C0279626 semapv:UnspecifiedMatching +Orphanet:99977 Squamous cell carcinoma of the esophagus oboInOwl:hasDbXref icd11:2B70.1 semapv:UnspecifiedMatching +Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref ICD10:C24.0 semapv:UnspecifiedMatching +Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref MESH:D018285 semapv:UnspecifiedMatching +Orphanet:99978 Klatskin tumor oboInOwl:hasDbXref UMLS:C0206702 semapv:UnspecifiedMatching +Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching +Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref ICD10:P28.4 semapv:UnspecifiedMatching +Orphanet:99981 Apnea of prematurity oboInOwl:hasDbXref UMLS:C0475715 semapv:UnspecifiedMatching +Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref UMLS:C0027031 semapv:UnspecifiedMatching +Orphanet:99983 Cutaneous myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching +Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref UMLS:C5680423 semapv:UnspecifiedMatching +Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching +Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching +Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref UMLS:C0006181 semapv:UnspecifiedMatching +Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching +Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching +Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref UMLS:C5681812 semapv:UnspecifiedMatching +Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching +Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref MedDRA:10064335 semapv:UnspecifiedMatching +Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref UMLS:C0007462 semapv:UnspecifiedMatching +Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref icd11:MG30.04 semapv:UnspecifiedMatching +Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref ICD10:G90.5 semapv:UnspecifiedMatching +Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref MedDRA:10064334 semapv:UnspecifiedMatching +Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching +Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref UMLS:C0034931 semapv:UnspecifiedMatching +Orphanet:99995 Complex regional pain syndrome type 1 oboInOwl:hasDbXref icd11:MG30.04 semapv:UnspecifiedMatching diff --git a/src/ontology/config/prefixes.csv b/src/ontology/config/prefixes.csv index f29f5f41..1322fd01 100644 --- a/src/ontology/config/prefixes.csv +++ b/src/ontology/config/prefixes.csv @@ -227,12 +227,27 @@ ICD10CM,http://purl.bioontology.org/ontology/ICD10CM/ ICD10CM2,https://icd.codes/icd10cm/ ICD10WHO,https://icd.who.int/browse10/2019/en#/ ICD10WHO2010,http://apps.who.int/classifications/icd10/browse/2010/en#/ -OMIMPS,https://www.omim.org/phenotypicSeries/PS +OMIMPS,https://omim.org/phenotypicSeries/PS OMIM,https://omim.org/entry/ Orphanet,http://www.orpha.net/ORDO/Orphanet_ GARD,http://purl.obolibrary.org/obo/GARD_ -MEDRA,http://identifiers.org/meddra/ MESH,http://identifiers.org/mesh/ -SCTID,http://identifiers.org/snomedct/ +SCTID,http://snomed.info/id/ UMLS,http://purl.obolibrary.org/obo/UMLS_ -UMLS2,http://linkedlifedata.com/resource/umls/id/ \ No newline at end of file +UMLS,http://linkedlifedata.com/resource/umls/id/ +HGNC,http://identifiers.org/hgnc/ +MEDDRA,http://identifiers.org/meddra/ +MEDGEN,http://identifiers.org/medgen/ +SCTID,http://identifiers.org/snomedct/ +UMLS,http://linkedlifedata.com/resource/umls/id/ +orcid,https://orcid.org/ +swrl,http://www.w3.org/2003/11/swrl# +semapv,https://w3id.org/semapv/vocab/ +HGNC_SYMBOL,https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ +HGNC,https://identifiers.org/hgnc/ +ncbi.gene,https://www.ncbi.nlm.nih.gov/gene/ +OMIMPS,https://www.omim.org/phenotypicSeries/PS +STY,http://purl.bioontology.org/ontology/STY/ +sssom,https://w3id.org/sssom/ +biolink,https://w3id.org/biolink/vocab/ +doap,http://usefulinc.com/ns/doap# diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 1609076d..c8520397 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-01-11") +Annotation(owl:versionInfo "2024-01-24") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 5d4d20b2..a7544257 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-01-11") +Annotation(owl:versionInfo "2024-01-24") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index c11b9518..c957a12d 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,51 +3,49 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 92 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 62 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 159 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 100 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 38 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 38 * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1931 - * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1532 + * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1531 * Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1217 - * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 475 + * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 476 * Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2 * Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2 - * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 87 - * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 45 - * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 25 - * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 22 - * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 15 - * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 6 - * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 129 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 129 - * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 10328 - * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 4251 - * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 1 - * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 1 + * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 86 + * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 44 + * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 26 + * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 23 + * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 14 + * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 5 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 128 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 128 + * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 28 + * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 21 + * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 902 + * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 902 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 128 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 284 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 24 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1217 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 31 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 22 - * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 22 - * Number of mappings in [`mondo_broadmatch_omimps`](split-mapping-set/mondo_broadmatch_omimps.tsv): 1 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 110 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 - * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 500 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 195 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 57 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6006 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1932 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6009 * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 72 - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 57 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 120 * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 6 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1217 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 31 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 24 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 10327 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 69604 - * Number of mappings in [`mondo_broadmatch_orphanet`](split-mapping-set/mondo_broadmatch_orphanet.tsv): 190 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 117 + * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 24 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 23 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 110 + * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 68 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 928 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 28354c9b..ec1ce2ed 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -509,7 +509,6 @@ MONDO:0010947 MONDO:equivalentTo ICD10WHO:I82.0 Budd-Chiari syndrome Budd-Chiari MONDO:0011284 MONDO:equivalentTo ICD10WHO:H52.2 astigmatism Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism MONDO:0011438 MONDO:equivalentTo ICD10WHO:L70 acne Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne MONDO:0011662 MONDO:equivalentTo ICD10WHO:F63.0 pathological gambling Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling -MONDO:0011728 MONDO:equivalentTo ICD10WHO:G24.5 blepharospasm Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm MONDO:0011827 MONDO:equivalentTo ICD10WHO:Q25.0 patent ductus arteriosus Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus MONDO:0011989 MONDO:equivalentTo ICD10WHO:B55 leishmaniasis Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis MONDO:0012155 MONDO:equivalentTo ICD10WHO:Q30.0 choanal atresia Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia @@ -742,16 +741,36 @@ MONDO:0850046 MONDO:equivalentTo ICD10WHO:O88.1 amniotic fluid embolism Amniotic MONDO:0850231 MONDO:equivalentTo ICD10WHO:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect +MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c537835 MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 -MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ladd syndrome +MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:149730 +MONDO:0008164 MONDO:equivalentTo DOID:0060920 otosclerosis 1 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:166800 MONDO:0008672 MONDO:equivalentTo DOID:0070483 Watson syndrome Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 +MONDO:0009726 MONDO:equivalentTo DOID:0060913 proteosome-associated autoinflammatory syndrome proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:256040 MONDO:0010209 MONDO:equivalentTo DOID:0070452 xanthinuria type I xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 +MONDO:0010857 MONDO:equivalentTo DOID:0081391 semantic dementia semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia MONDO:0011346 MONDO:equivalentTo DOID:0070453 xanthinuria type II xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 +MONDO:0011586 MONDO:equivalentTo DOID:0060921 otosclerosis 2 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605727 +MONDO:0011999 MONDO:equivalentTo DOID:0060922 otosclerosis 3 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608244 +MONDO:0012121 MONDO:equivalentTo DOID:0060924 otosclerosis 5 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608787 +MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c567020 +MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611087 +MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c548032 MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 +MONDO:0012696 MONDO:equivalentTo DOID:0060923 otosclerosis 4 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611571 +MONDO:0012697 MONDO:equivalentTo DOID:0060925 otosclerosis 7 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611572 +MONDO:0012797 MONDO:equivalentTo DOID:0060926 otosclerosis 8 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:612096 +MONDO:0014264 MONDO:equivalentTo DOID:0060927 otosclerosis 10 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615589 MONDO:0014299 MONDO:equivalentTo DOID:0070481 schwannomatosis 2 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 +MONDO:0014958 MONDO:equivalentTo DOID:0081395 Harel-Yoon syndrome Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617183 +MONDO:0015059 MONDO:equivalentTo DOID:0081390 progressive non-fluent aphasia progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia +MONDO:0016644 MONDO:equivalentTo DOID:0081389 logopenic progressive aphasia logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia +MONDO:0018808 MONDO:equivalentTo DOID:0081394 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome +MONDO:0019806 MONDO:equivalentTo DOID:0081388 primary progressive aphasia primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia MONDO:0020730 MONDO:equivalentTo DOID:0070466 carpal tunnel syndrome 1 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 MONDO:0024517 MONDO:equivalentTo DOID:0070480 schwannomatosis 1 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 MONDO:0030020 MONDO:equivalentTo DOID:0070424 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 +MONDO:0030073 MONDO:equivalentTo DOID:0070516 Mitchell syndrome Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618960 MONDO:0030311 MONDO:equivalentTo DOID:0070425 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 MONDO:0030378 MONDO:equivalentTo DOID:0070426 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 MONDO:0030543 MONDO:equivalentTo DOID:0070427 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 @@ -759,6096 +778,35 @@ MONDO:0030883 MONDO:equivalentTo DOID:0070467 carpal tunnel syndrome 2 carpal tu MONDO:0032815 MONDO:equivalentTo DOID:0070448 mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 MONDO:0032932 MONDO:equivalentTo DOID:0070449 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 MONDO:0033545 MONDO:equivalentTo DOID:0070450 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 +MONDO:0033618 MONDO:equivalentTo DOID:0081397 Vissers-Bodmer syndrome Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619033 +MONDO:0044315 MONDO:equivalentTo DOID:0060912 craniosynostosis 7 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617439 MONDO:0054560 MONDO:equivalentTo DOID:0050640 anauxetic dysplasia 1 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 +MONDO:0054699 MONDO:equivalentTo DOID:0060916 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617591 +MONDO:0054835 MONDO:equivalentTo DOID:0070489 classic dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613135 +MONDO:0060596 MONDO:equivalentTo DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617755 +MONDO:0700200 MONDO:equivalentTo DOID:0070488 atypical dopamine transporter deficiency syndrome atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome MONDO:0859152 MONDO:equivalentTo DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 MONDO:0859179 MONDO:equivalentTo DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 +MONDO:0859209 MONDO:equivalentTo DOID:0070473 Zaki syndrome Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619648 MONDO:0859221 MONDO:equivalentTo DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 MONDO:0859228 MONDO:equivalentTo DOID:0070428 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 MONDO:0859256 MONDO:equivalentTo DOID:0070444 neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 MONDO:0859295 MONDO:equivalentTo DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 MONDO:0859323 MONDO:equivalentTo DOID:0070429 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 MONDO:0859337 MONDO:equivalentTo DOID:0070430 combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 +MONDO:0859355 MONDO:equivalentTo DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620199 MONDO:0859577 MONDO:equivalentTo DOID:0081371 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 MONDO:0859578 MONDO:equivalentTo DOID:0081372 lacrimoauriculodentodigital syndrome 3 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 MONDO:0957215 MONDO:equivalentTo DOID:0081352 congenital myopathy 20 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 MONDO:0957248 MONDO:equivalentTo DOID:0070376 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 -MONDO:0000001 MONDO:equivalentTo Orphanet:377788 disease Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disease -MONDO:0000087 MONDO:equivalentTo Orphanet:35981 polymicrogyria Polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria -MONDO:0000107 MONDO:equivalentTo Orphanet:137888 auriculocondylar syndrome Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auriculocondylar syndrome -MONDO:0000110 MONDO:equivalentTo Orphanet:2695 bifid nose Bifid nose semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bifid nose -MONDO:0000127 MONDO:equivalentTo Orphanet:2623 geleophysic dysplasia Geleophysic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geleophysic dysplasia -MONDO:0000128 MONDO:equivalentTo Orphanet:643 giant axonal neuropathy Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy -MONDO:0000136 MONDO:equivalentTo Orphanet:2340 keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis spinulosa decalvans -MONDO:0000141 MONDO:equivalentTo Orphanet:1052 mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome -MONDO:0000153 MONDO:equivalentTo Orphanet:216675 transposition of the great arteries Transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transposition of the great arteries -MONDO:0000179 MONDO:equivalentTo Orphanet:2671 Neu-Laxova syndrome Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neu-laxova syndrome -MONDO:0000200 MONDO:equivalentTo Orphanet:3473 Zimmermann-Laband syndrome Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zimmermann-laband syndrome -MONDO:0000209 MONDO:equivalentTo Orphanet:486811 prenatal-onset spinal muscular atrophy with congenital bone fractures Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prenatal-onset spinal muscular atrophy with congenital bone fractures -MONDO:0000463 MONDO:equivalentTo Orphanet:2704 Ochoa syndrome Ochoa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ochoa syndrome -MONDO:0000507 MONDO:equivalentTo Orphanet:52430 inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy with paget disease of bone and frontotemporal dementia -MONDO:0000565 MONDO:equivalentTo Orphanet:570762 infective endocarditis Infective endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infective endocarditis -MONDO:0000736 MONDO:equivalentTo Orphanet:241 dyschromatosis universalis hereditaria Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria -MONDO:0000754 MONDO:equivalentTo Orphanet:228113 anal fistula Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula -MONDO:0000903 MONDO:equivalentTo Orphanet:36899 myoclonus-dystonia syndrome Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonus-dystonia syndrome -MONDO:0001032 MONDO:equivalentTo Orphanet:519408 Mooren ulcer Mooren ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mooren ulcer -MONDO:0001044 MONDO:equivalentTo Orphanet:1199 esophageal atresia Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia -MONDO:0001586 MONDO:equivalentTo Orphanet:579 mucopolysaccharidosis type 1 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 1 +MONDO:0957386 MONDO:equivalentTo DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620428 MONDO:0001633 MONDO:equivalentTo Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion -MONDO:0001790 MONDO:equivalentTo Orphanet:645276 spinal cord lipoma Spinal cord lipoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord lipoma -MONDO:0001971 MONDO:equivalentTo Orphanet:99906 farmer's lung disease Farmer's lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label farmer's lung disease -MONDO:0002016 MONDO:equivalentTo Orphanet:1949 benign familial neonatal epilepsy Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial neonatal epilepsy -MONDO:0002142 MONDO:equivalentTo Orphanet:2023 undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated pleomorphic sarcoma -MONDO:0002303 MONDO:equivalentTo Orphanet:411527 central retinal vein occlusion Central retinal vein occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal vein occlusion -MONDO:0002422 MONDO:equivalentTo Orphanet:55881 adamantinoma Adamantinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adamantinoma -MONDO:0002429 MONDO:equivalentTo Orphanet:98300 idiopathic interstitial pneumonia Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic interstitial pneumonia -MONDO:0002441 MONDO:equivalentTo Orphanet:90647 Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jervell and lange-nielsen syndrome -MONDO:0002457 MONDO:equivalentTo Orphanet:861 Treacher-Collins syndrome Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher-collins syndrome -MONDO:0002474 MONDO:equivalentTo Orphanet:416 primary hyperoxaluria Primary hyperoxaluria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria -MONDO:0002522 MONDO:equivalentTo Orphanet:66627 tenosynovial giant cell tumor Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor -MONDO:0002571 MONDO:equivalentTo Orphanet:46135 primary central nervous system lymphoma Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary central nervous system lymphoma -MONDO:0002588 MONDO:equivalentTo Orphanet:263310 thymoma type A Thymoma type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type a -MONDO:0002687 MONDO:equivalentTo Orphanet:622099 superior mesenteric artery syndrome Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome -MONDO:0002728 MONDO:equivalentTo Orphanet:69077 rhabdoid tumor Rhabdoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor -MONDO:0003266 MONDO:equivalentTo Orphanet:301 ependymal tumor Ependymal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymal tumor -MONDO:0003308 MONDO:equivalentTo Orphanet:50251 pleural mesothelioma Pleural mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma -MONDO:0003789 MONDO:equivalentTo Orphanet:47044 hereditary papillary renal cell carcinoma Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary papillary renal cell carcinoma -MONDO:0004187 MONDO:equivalentTo Orphanet:477742 nodular fasciitis Nodular fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular fasciitis -MONDO:0004241 MONDO:equivalentTo Orphanet:97335 Osgood-Schlatter disease Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osgood-schlatter disease -MONDO:0004691 MONDO:equivalentTo Orphanet:730 autosomal dominant polycystic kidney disease Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant polycystic kidney disease -MONDO:0004907 MONDO:equivalentTo Orphanet:79364 alopecia Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia -MONDO:0004933 MONDO:equivalentTo Orphanet:2248 hypoplastic left heart syndrome Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome -MONDO:0004948 MONDO:equivalentTo Orphanet:67038 B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell chronic lymphocytic leukemia -MONDO:0004967 MONDO:equivalentTo Orphanet:513 acute lymphoblastic leukemia Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lymphoblastic leukemia -MONDO:0004976 MONDO:equivalentTo Orphanet:803 amyotrophic lateral sclerosis Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis -MONDO:0004977 MONDO:equivalentTo Orphanet:86886 angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma -MONDO:0005005 MONDO:equivalentTo Orphanet:319276 clear cell renal carcinoma Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell renal carcinoma -MONDO:0005006 MONDO:equivalentTo Orphanet:457246 clear cell sarcoma of kidney Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell sarcoma of kidney -MONDO:0005021 MONDO:equivalentTo Orphanet:217604 dilated cardiomyopathy Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy -MONDO:0005029 MONDO:equivalentTo Orphanet:3318 essential thrombocythemia Essential thrombocythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential thrombocythemia -MONDO:0005033 MONDO:equivalentTo Orphanet:251992 ganglioneuroma Ganglioneuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioneuroma -MONDO:0005035 MONDO:equivalentTo Orphanet:251877 ganglioneuroblastoma Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioneuroblastoma -MONDO:0005040 MONDO:equivalentTo Orphanet:3399 germ cell tumor Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor -MONDO:0005058 MONDO:equivalentTo Orphanet:64720 leiomyosarcoma Leiomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma -MONDO:0005060 MONDO:equivalentTo Orphanet:69078 liposarcoma Liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liposarcoma -MONDO:0005062 MONDO:equivalentTo Orphanet:223735 lymphoma Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoma -MONDO:0005072 MONDO:equivalentTo Orphanet:635 neuroblastoma Neuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroblastoma -MONDO:0005081 MONDO:equivalentTo Orphanet:275555 preeclampsia Preeclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preeclampsia -MONDO:0005086 MONDO:equivalentTo Orphanet:217071 renal cell carcinoma Renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma -MONDO:0005091 MONDO:equivalentTo Orphanet:140896 severe acute respiratory syndrome Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe acute respiratory syndrome -MONDO:0005100 MONDO:equivalentTo Orphanet:90291 systemic sclerosis Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis -MONDO:0005103 MONDO:equivalentTo Orphanet:99971 well-differentiated liposarcoma Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated liposarcoma -MONDO:0005116 MONDO:equivalentTo Orphanet:3452 Whipple disease Whipple disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whipple disease -MONDO:0005124 MONDO:equivalentTo Orphanet:548 leprosy Leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leprosy -MONDO:0005136 MONDO:equivalentTo Orphanet:673 malaria Malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malaria -MONDO:0005164 MONDO:equivalentTo Orphanet:2030 fibrosarcoma Fibrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosarcoma -MONDO:0005181 MONDO:equivalentTo Orphanet:520820 progressive external ophthalmoplegia Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia -MONDO:0005198 MONDO:equivalentTo Orphanet:137583 vulvar intraepithelial neoplasia Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar intraepithelial neoplasia -MONDO:0005201 MONDO:equivalentTo Orphanet:217632 restrictive cardiomyopathy Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive cardiomyopathy -MONDO:0005212 MONDO:equivalentTo Orphanet:780 rhabdomyosarcoma Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyosarcoma -MONDO:0005215 MONDO:equivalentTo Orphanet:494418 vulvar carcinoma Vulvar carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar carcinoma -MONDO:0005220 MONDO:equivalentTo Orphanet:247203 collecting duct carcinoma Collecting duct carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label collecting duct carcinoma -MONDO:0005223 MONDO:equivalentTo Orphanet:98832 acute myeloid leukemia with minimal differentiation Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with minimal differentiation -MONDO:0005224 MONDO:equivalentTo Orphanet:98833 acute myeloblastic leukemia without maturation Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloblastic leukemia without maturation -MONDO:0005308 MONDO:equivalentTo Orphanet:363250 ciliopathy Ciliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliopathy -MONDO:0005312 MONDO:equivalentTo Orphanet:217067 pouchitis Pouchitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pouchitis -MONDO:0005313 MONDO:equivalentTo Orphanet:391673 necrotizing enterocolitis Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing enterocolitis -MONDO:0005380 MONDO:equivalentTo Orphanet:399158 osteonecrosis Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis -MONDO:0005388 MONDO:equivalentTo Orphanet:186 primary biliary cholangitis Primary biliary cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis -MONDO:0005440 MONDO:equivalentTo Orphanet:180226 embryonal carcinoma Embryonal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal carcinoma -MONDO:0005498 MONDO:equivalentTo Orphanet:1267 botulism Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism -MONDO:0005504 MONDO:equivalentTo Orphanet:1679 diphtheria Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria -MONDO:0005505 MONDO:equivalentTo Orphanet:251946 dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysembryoplastic neuroepithelial tumor -MONDO:0005512 MONDO:equivalentTo Orphanet:168811 malignant peritoneal mesothelioma Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant peritoneal mesothelioma -MONDO:0005526 MONDO:equivalentTo Orphanet:3299 tetanus Tetanus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus -MONDO:0005543 MONDO:equivalentTo Orphanet:563576 autoimmune hepatitis type 1 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis type 1 -MONDO:0005563 MONDO:equivalentTo Orphanet:443167 nut midline carcinoma NUT midline carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nut midline carcinoma -MONDO:0005571 MONDO:equivalentTo Orphanet:98427 polycythemia Polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycythemia -MONDO:0005615 MONDO:equivalentTo Orphanet:86855 plasmacytoma Plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmacytoma -MONDO:0005631 MONDO:equivalentTo Orphanet:457095 actinomycosis Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis -MONDO:0005657 MONDO:equivalentTo Orphanet:1163 aspergillosis Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis -MONDO:0005661 MONDO:equivalentTo Orphanet:108 babesiosis Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis -MONDO:0005662 MONDO:equivalentTo Orphanet:1223 balantidiasis Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis -MONDO:0005680 MONDO:equivalentTo Orphanet:99990 Brill-Zinsser disease Brill-Zinsser disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brill-zinsser disease -MONDO:0005683 MONDO:equivalentTo Orphanet:1304 brucellosis Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis -MONDO:0005692 MONDO:equivalentTo Orphanet:50839 cat-scratch disease Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease -MONDO:0005696 MONDO:equivalentTo Orphanet:641396 central nervous system tuberculosis Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system tuberculosis -MONDO:0005706 MONDO:equivalentTo Orphanet:228123 coccidioidomycosis Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis -MONDO:0005708 MONDO:equivalentTo Orphanet:83595 Colorado tick fever Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever -MONDO:0005710 MONDO:equivalentTo Orphanet:168966 composite lymphoma Composite lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label composite lymphoma -MONDO:0005711 MONDO:equivalentTo Orphanet:2140 congenital diaphragmatic hernia Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia -MONDO:0005714 MONDO:equivalentTo Orphanet:499009 congenital syphilis Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis -MONDO:0005715 MONDO:equivalentTo Orphanet:858 congenital toxoplasmosis Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis -MONDO:0005724 MONDO:equivalentTo Orphanet:1546 cryptococcosis Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis -MONDO:0005725 MONDO:equivalentTo Orphanet:210 cyclosporiasis Cyclosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyclosporiasis -MONDO:0005736 MONDO:equivalentTo Orphanet:83594 eastern equine encephalitis Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis -MONDO:0005737 MONDO:equivalentTo Orphanet:319218 Ebola hemorrhagic fever Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebola hemorrhagic fever -MONDO:0005744 MONDO:equivalentTo Orphanet:876 yolk sac tumor Yolk sac tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yolk sac tumor -MONDO:0005764 MONDO:equivalentTo Orphanet:86902 follicular dendritic cell sarcoma Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular dendritic cell sarcoma -MONDO:0005773 MONDO:equivalentTo Orphanet:221117 Gerstmann syndrome Gerstmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gerstmann syndrome -MONDO:0005802 MONDO:equivalentTo Orphanet:401 hymenolepiasis Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis -MONDO:0005813 MONDO:equivalentTo Orphanet:86900 interdigitating dendritic cell sarcoma Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma -MONDO:0005820 MONDO:equivalentTo Orphanet:99824 Lassa fever Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever -MONDO:0005823 MONDO:equivalentTo Orphanet:600832 legionellosis Legionellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legionellosis -MONDO:0005825 MONDO:equivalentTo Orphanet:509 leptospirosis Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis -MONDO:0005828 MONDO:equivalentTo Orphanet:533 listeriosis Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis -MONDO:0005835 MONDO:equivalentTo Orphanet:144 Lynch syndrome Lynch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lynch syndrome -MONDO:0005838 MONDO:equivalentTo Orphanet:2459 mansonelliasis Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis -MONDO:0005846 MONDO:equivalentTo Orphanet:2552 microsporidiosis Microsporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microsporidiosis -MONDO:0005851 MONDO:equivalentTo Orphanet:98919 Miller Fisher syndrome Miller Fisher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miller fisher syndrome -MONDO:0005854 MONDO:equivalentTo Orphanet:809 mixed connective tissue disease Mixed connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed connective tissue disease -MONDO:0005894 MONDO:equivalentTo Orphanet:73260 paracoccidioidomycosis Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis -MONDO:0005919 MONDO:equivalentTo Orphanet:439167 placental insufficiency Placental insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placental insufficiency -MONDO:0005933 MONDO:equivalentTo Orphanet:64741 pulmonary blastoma Pulmonary blastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary blastoma -MONDO:0005942 MONDO:equivalentTo Orphanet:3096 Reye syndrome Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome -MONDO:0005968 MONDO:equivalentTo Orphanet:826 sporotrichosis Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis -MONDO:0005969 MONDO:equivalentTo Orphanet:83484 st. Louis encephalitis St. Louis encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label st. louis encephalitis -MONDO:0005974 MONDO:equivalentTo Orphanet:76 strongyloidiasis Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis -MONDO:0005979 MONDO:equivalentTo Orphanet:97330 thoracic outlet syndrome Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic outlet syndrome -MONDO:0005988 MONDO:equivalentTo Orphanet:3343 toxocariasis Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis -MONDO:0005991 MONDO:equivalentTo Orphanet:64694 trench fever Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever -MONDO:0006015 MONDO:equivalentTo Orphanet:100067 Waterhouse-Friderichsen syndrome Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome -MONDO:0006033 MONDO:equivalentTo Orphanet:497188 diffuse intrinsic pontine glioma Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse intrinsic pontine glioma -MONDO:0006079 MONDO:equivalentTo Orphanet:314422 ameloblastic carcinoma Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ameloblastic carcinoma -MONDO:0006131 MONDO:equivalentTo Orphanet:251931 cerebellar liponeurocytoma Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar liponeurocytoma -MONDO:0006183 MONDO:equivalentTo Orphanet:71274 disseminated peritoneal leiomyomatosis Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated peritoneal leiomyomatosis -MONDO:0006210 MONDO:equivalentTo Orphanet:401920 fibrolamellar hepatocellular carcinoma Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrolamellar hepatocellular carcinoma -MONDO:0006248 MONDO:equivalentTo Orphanet:99927 hydatidiform mole Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole -MONDO:0006372 MONDO:equivalentTo Orphanet:251623 pituicytoma Pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma -MONDO:0006383 MONDO:equivalentTo Orphanet:178544 primary cutaneous diffuse large B-cell lymphoma, Leg type Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous diffuse large b-cell lymphoma, leg type -MONDO:0006451 MONDO:equivalentTo Orphanet:99868 thymic carcinoma Thymic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic carcinoma -MONDO:0006456 MONDO:equivalentTo Orphanet:99867 thymoma Thymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma -MONDO:0006486 MONDO:equivalentTo Orphanet:39044 uveal melanoma Uveal melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveal melanoma -MONDO:0006536 MONDO:equivalentTo Orphanet:528 congenital generalized lipodystrophy Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy -MONDO:0006558 MONDO:equivalentTo Orphanet:63275 pemphigoid gestationis Pemphigoid gestationis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid gestationis -MONDO:0006583 MONDO:equivalentTo Orphanet:542592 necrobiosis lipoidica Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrobiosis lipoidica -MONDO:0006602 MONDO:equivalentTo Orphanet:79358 porokeratosis Porokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis -MONDO:0006614 MONDO:equivalentTo Orphanet:48377 subcorneal pustular dermatosis Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcorneal pustular dermatosis -MONDO:0006618 MONDO:equivalentTo Orphanet:493342 vibratory urticaria Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria -MONDO:0006651 MONDO:equivalentTo Orphanet:280886 anterior uveitis Anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior uveitis -MONDO:0006687 MONDO:equivalentTo Orphanet:353253 burning mouth syndrome Burning mouth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burning mouth syndrome -MONDO:0006806 MONDO:equivalentTo Orphanet:279914 intermediate uveitis Intermediate uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate uveitis -MONDO:0006825 MONDO:equivalentTo Orphanet:454745 kuru Kuru semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kuru -MONDO:0006851 MONDO:equivalentTo Orphanet:70588 meconium aspiration syndrome Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium aspiration syndrome -MONDO:0006861 MONDO:equivalentTo Orphanet:86850 myeloid sarcoma Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma -MONDO:0006908 MONDO:equivalentTo Orphanet:95613 pituitary apoplexy Pituitary apoplexy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary apoplexy -MONDO:0006913 MONDO:equivalentTo Orphanet:55655 pneumococcal meningitis Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis -MONDO:0006918 MONDO:equivalentTo Orphanet:280892 posterior uveitis Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis -MONDO:0006941 MONDO:equivalentTo Orphanet:31205 rat-bite fever Rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rat-bite fever -MONDO:0006952 MONDO:equivalentTo Orphanet:90050 retinopathy of prematurity Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity -MONDO:0006976 MONDO:equivalentTo Orphanet:97283 somatostatinoma Somatostatinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatostatinoma -MONDO:0007012 MONDO:equivalentTo Orphanet:576370 variant Creutzfeldt-Jakob disease Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant creutzfeldt-jakob disease -MONDO:0007031 MONDO:equivalentTo Orphanet:86 familial abdominal aortic aneurysm Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial abdominal aortic aneurysm -MONDO:0007032 MONDO:equivalentTo Orphanet:2970 prune belly syndrome Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome -MONDO:0007034 MONDO:equivalentTo Orphanet:974 Adams-Oliver syndrome Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adams-oliver syndrome -MONDO:0007037 MONDO:equivalentTo Orphanet:15 Achondroplasia Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia -MONDO:0007041 MONDO:equivalentTo Orphanet:87 Apert syndrome Apert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apert syndrome -MONDO:0007042 MONDO:equivalentTo Orphanet:794 Saethre-Chotzen syndrome Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label saethre-chotzen syndrome -MONDO:0007043 MONDO:equivalentTo Orphanet:710 Pfeiffer syndrome Pfeiffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome -MONDO:0007045 MONDO:equivalentTo Orphanet:1786 acrofacial dysostosis, Catania type Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, catania type -MONDO:0007055 MONDO:equivalentTo Orphanet:969 Acromicric dysplasia Acromicric dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromicric dysplasia -MONDO:0007058 MONDO:equivalentTo Orphanet:957 Acropectorovertebral dysplasia Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acropectorovertebral dysplasia -MONDO:0007059 MONDO:equivalentTo Orphanet:971 acrorenal syndrome Acrorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrorenal syndrome -MONDO:0007068 MONDO:equivalentTo Orphanet:46 adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenylosuccinate lyase deficiency -MONDO:0007070 MONDO:equivalentTo Orphanet:36397 adiposis dolorosa Adiposis dolorosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adiposis dolorosa -MONDO:0007072 MONDO:equivalentTo Orphanet:978 ADULT syndrome ADULT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult syndrome -MONDO:0007073 MONDO:equivalentTo Orphanet:989 Hypoglossia-hypodactyly syndrome Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoglossia-hypodactyly syndrome -MONDO:0007077 MONDO:equivalentTo Orphanet:42665 Tietz syndrome Tietz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tietz syndrome -MONDO:0007078 MONDO:equivalentTo Orphanet:79443 pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1a -MONDO:0007083 MONDO:equivalentTo Orphanet:1010 autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant palmoplantar keratoderma and congenital alopecia -MONDO:0007085 MONDO:equivalentTo Orphanet:1008 alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia-epilepsy-pyorrhea-intellectual disability syndrome -MONDO:0007086 MONDO:equivalentTo Orphanet:88918 autosomal dominant Alport syndrome Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant alport syndrome -MONDO:0007093 MONDO:equivalentTo Orphanet:100034 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism -MONDO:0007098 MONDO:equivalentTo Orphanet:100008 ACys amyloidosis ACys amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acys amyloidosis -MONDO:0007101 MONDO:equivalentTo Orphanet:353220 familial primary localized cutaneous amyloidosis Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial primary localized cutaneous amyloidosis -MONDO:0007112 MONDO:equivalentTo Orphanet:99092 interventricular septum aneurysm Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interventricular septum aneurysm -MONDO:0007113 MONDO:equivalentTo Orphanet:72 Angelman syndrome Angelman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome -MONDO:0007114 MONDO:equivalentTo Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angel-shaped phalango-epiphyseal dysplasia -MONDO:0007119 MONDO:equivalentTo Orphanet:250923 isolated aniridia Isolated aniridia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated aniridia -MONDO:0007120 MONDO:equivalentTo Orphanet:1069 aniridia-absent patella syndrome Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-absent patella syndrome -MONDO:0007123 MONDO:equivalentTo Orphanet:1072 ankyloblepharon filiforme adnatum-cleft palate syndrome Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloblepharon filiforme adnatum-cleft palate syndrome -MONDO:0007124 MONDO:equivalentTo Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -MONDO:0007130 MONDO:equivalentTo Orphanet:99125 congenital total pulmonary venous return anomaly Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital total pulmonary venous return anomaly -MONDO:0007131 MONDO:equivalentTo Orphanet:69125 anonychia with flexural pigmentation Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia with flexural pigmentation -MONDO:0007134 MONDO:equivalentTo Orphanet:1487 Cooks syndrome Cooks syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cooks syndrome -MONDO:0007137 MONDO:equivalentTo Orphanet:88620 isolated congenital anosmia Isolated congenital anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital anosmia -MONDO:0007142 MONDO:equivalentTo Orphanet:857 Townes-Brocks syndrome Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label townes-brocks syndrome -MONDO:0007143 MONDO:equivalentTo Orphanet:1110 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch anomaly-facial dysmorphism-intellectual disability syndrome -MONDO:0007145 MONDO:equivalentTo Orphanet:1114 aplasia cutis congenita Aplasia cutis congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis congenita -MONDO:0007159 MONDO:equivalentTo Orphanet:1144 arthrogryposis-like hand anomaly-sensorineural deafness syndrome Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-like hand anomaly-sensorineural deafness syndrome -MONDO:0007160 MONDO:equivalentTo Orphanet:90653 Stickler syndrome type 1 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007167 MONDO:equivalentTo Orphanet:1190 atelosteogenesis type I Atelosteogenesis type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type i -MONDO:0007168 MONDO:equivalentTo Orphanet:56305 atelosteogenesis type III Atelosteogenesis type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type iii -MONDO:0007174 MONDO:equivalentTo Orphanet:844 Lown-Ganong-Levine syndrome Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lown-ganong-levine syndrome -MONDO:0007176 MONDO:equivalentTo Orphanet:86813 helicoid peripapillary chorioretinal degeneration Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label helicoid peripapillary chorioretinal degeneration -MONDO:0007177 MONDO:equivalentTo Orphanet:114 auriculoosteodysplasia Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auriculoosteodysplasia -MONDO:0007185 MONDO:equivalentTo Orphanet:1228 Banki syndrome Banki syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label banki syndrome -MONDO:0007188 MONDO:equivalentTo Orphanet:2285 primary basilar invagination Primary basilar invagination semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary basilar invagination -MONDO:0007194 MONDO:equivalentTo Orphanet:402075 familial bicuspid aortic valve Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial bicuspid aortic valve -MONDO:0007198 MONDO:equivalentTo Orphanet:1253 Ascher syndrome Ascher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascher syndrome -MONDO:0007200 MONDO:equivalentTo Orphanet:1252 blepharonasofacial malformation syndrome Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharonasofacial malformation syndrome -MONDO:0007202 MONDO:equivalentTo Orphanet:1259 blepharoptosis-myopia-ectopia lentis syndrome Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoptosis-myopia-ectopia lentis syndrome -MONDO:0007203 MONDO:equivalentTo Orphanet:1059 blue rubber bleb nevus Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blue rubber bleb nevus -MONDO:0007205 MONDO:equivalentTo Orphanet:85182 diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphyseal medullary stenosis-bone malignancy syndrome -MONDO:0007207 MONDO:equivalentTo Orphanet:1262 Böök syndrome Böök syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label böök syndrome -MONDO:0007208 MONDO:equivalentTo Orphanet:1263 Boomerang dysplasia Boomerang dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label boomerang dysplasia -MONDO:0007209 MONDO:equivalentTo Orphanet:3344 Weismann-Netter syndrome Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weismann-netter syndrome -MONDO:0007211 MONDO:equivalentTo Orphanet:1276 brachydactyly-arterial hypertension syndrome Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-arterial hypertension syndrome -MONDO:0007212 MONDO:equivalentTo Orphanet:2946 brachydactyly-long thumb syndrome Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-long thumb syndrome -MONDO:0007214 MONDO:equivalentTo Orphanet:1278 brachydactyly-preaxial hallux varus syndrome Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-preaxial hallux varus syndrome -MONDO:0007215 MONDO:equivalentTo Orphanet:93388 brachydactyly type A1 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a1 -MONDO:0007216 MONDO:equivalentTo Orphanet:93396 brachydactyly type A2 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a2 -MONDO:0007218 MONDO:equivalentTo Orphanet:93394 brachydactyly type A4 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a4 -MONDO:0007220 MONDO:equivalentTo Orphanet:572385 brachydactyly type B1 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b1 -MONDO:0007221 MONDO:equivalentTo Orphanet:93384 brachydactyly type C Brachydactyly type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type c -MONDO:0007225 MONDO:equivalentTo Orphanet:1118 fibular aplasia-ectrodactyly syndrome Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular aplasia-ectrodactyly syndrome -MONDO:0007226 MONDO:equivalentTo Orphanet:1246 brachydactyly-nystagmus-cerebellar ataxia syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-nystagmus-cerebellar ataxia syndrome -MONDO:0007227 MONDO:equivalentTo Orphanet:3168 Sillence syndrome Sillence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sillence syndrome -MONDO:0007230 MONDO:equivalentTo Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachymorphism-onychodysplasia-dysphalangism syndrome -MONDO:0007231 MONDO:equivalentTo Orphanet:1295 brachytelephalangy-dysmorphism-Kallmann syndrome Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachytelephalangy-dysmorphism-kallmann syndrome -MONDO:0007232 MONDO:equivalentTo Orphanet:93304 autosomal dominant brachyolmia Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant brachyolmia -MONDO:0007233 MONDO:equivalentTo Orphanet:141022 second branchial cleft anomaly Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label second branchial cleft anomaly -MONDO:0007237 MONDO:equivalentTo Orphanet:180176 familial juvenile hypertrophy of the breast Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial juvenile hypertrophy of the breast -MONDO:0007243 MONDO:equivalentTo Orphanet:543 Burkitt lymphoma Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma -MONDO:0007244 MONDO:equivalentTo Orphanet:1310 Caffey disease Caffey disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caffey disease -MONDO:0007248 MONDO:equivalentTo Orphanet:79141 hereditary painful callosities Hereditary painful callosities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary painful callosities -MONDO:0007249 MONDO:equivalentTo Orphanet:1319 camptobrachydactyly Camptobrachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptobrachydactyly -MONDO:0007250 MONDO:equivalentTo Orphanet:295016 camptodactyly of fingers Camptodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly of fingers -MONDO:0007251 MONDO:equivalentTo Orphanet:140 campomelic dysplasia Campomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label campomelic dysplasia -MONDO:0007252 MONDO:equivalentTo Orphanet:376 Gordon syndrome Gordon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gordon syndrome -MONDO:0007256 MONDO:equivalentTo Orphanet:88673 hepatocellular carcinoma Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatocellular carcinoma -MONDO:0007259 MONDO:equivalentTo Orphanet:363705 craniofaciofrontodigital syndrome Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofaciofrontodigital syndrome -MONDO:0007271 MONDO:equivalentTo Orphanet:53296 familial cutaneous collagenoma Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cutaneous collagenoma -MONDO:0007272 MONDO:equivalentTo Orphanet:199285 hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypercarotenemia and vitamin a deficiency -MONDO:0007276 MONDO:equivalentTo Orphanet:195 cat-eye syndrome Cat-eye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-eye syndrome -MONDO:0007277 MONDO:equivalentTo Orphanet:1373 cataract-aberrant oral frenula-growth delay syndrome Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-aberrant oral frenula-growth delay syndrome -MONDO:0007296 MONDO:equivalentTo Orphanet:217012 spinocerebellar ataxia type 31 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 -MONDO:0007297 MONDO:equivalentTo Orphanet:97346 ADan amyloidosis ADan amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adan amyloidosis -MONDO:0007298 MONDO:equivalentTo Orphanet:208513 spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 29 -MONDO:0007301 MONDO:equivalentTo Orphanet:1393 cerebrocostomandibular syndrome Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrocostomandibular syndrome -MONDO:0007307 MONDO:equivalentTo Orphanet:101082 Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1b -MONDO:0007309 MONDO:equivalentTo Orphanet:101081 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1a -MONDO:0007311 MONDO:equivalentTo Orphanet:90658 Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1e -MONDO:0007313 MONDO:equivalentTo Orphanet:1221 cheilitis glandularis Cheilitis glandularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cheilitis glandularis -MONDO:0007315 MONDO:equivalentTo Orphanet:184 cherubism Cherubism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cherubism -MONDO:0007318 MONDO:equivalentTo Orphanet:52 Alagille syndrome Alagille syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome -MONDO:0007322 MONDO:equivalentTo Orphanet:79346 chondrodysplasia punctata, tibial-metacarpal type Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata, tibial-metacarpal type -MONDO:0007334 MONDO:equivalentTo Orphanet:1300 autosomal dominant popliteal pterygium syndrome Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome -MONDO:0007337 MONDO:equivalentTo Orphanet:2016 cleft palate-lateral synechia syndrome Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-lateral synechia syndrome -MONDO:0007341 MONDO:equivalentTo Orphanet:1453 cleidorhizomelic syndrome Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleidorhizomelic syndrome -MONDO:0007343 MONDO:equivalentTo Orphanet:217059 isolated congenital digital clubbing Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital digital clubbing -MONDO:0007345 MONDO:equivalentTo Orphanet:1457 aorta coarctation Aorta coarctation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorta coarctation -MONDO:0007346 MONDO:equivalentTo Orphanet:3233 cochleosaccular degeneration-cataract syndrome Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cochleosaccular degeneration-cataract syndrome -MONDO:0007351 MONDO:equivalentTo Orphanet:98945 coloboma of macula Coloboma of macula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of macula -MONDO:0007352 MONDO:equivalentTo Orphanet:1475 renal coloboma syndrome Renal coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal coloboma syndrome -MONDO:0007353 MONDO:equivalentTo Orphanet:1471 coloboma of macula-brachydactyly type B syndrome Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of macula-brachydactyly type b syndrome -MONDO:0007355 MONDO:equivalentTo Orphanet:1473 uveal coloboma-cleft lip and palate-intellectual disability Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveal coloboma-cleft lip and palate-intellectual disability -MONDO:0007363 MONDO:equivalentTo Orphanet:115 congenital contractural arachnodactyly Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital contractural arachnodactyly -MONDO:0007368 MONDO:equivalentTo Orphanet:1551 familial benign copper deficiency Familial benign copper deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial benign copper deficiency -MONDO:0007369 MONDO:equivalentTo Orphanet:79273 hereditary coproporphyria Hereditary coproporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary coproporphyria -MONDO:0007374 MONDO:equivalentTo Orphanet:98967 Schnyder corneal dystrophy Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schnyder corneal dystrophy -MONDO:0007375 MONDO:equivalentTo Orphanet:98956 epithelial basement membrane dystrophy Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial basement membrane dystrophy -MONDO:0007376 MONDO:equivalentTo Orphanet:98970 fleck corneal dystrophy Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fleck corneal dystrophy -MONDO:0007377 MONDO:equivalentTo Orphanet:98962 granular corneal dystrophy type I Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granular corneal dystrophy type i -MONDO:0007379 MONDO:equivalentTo Orphanet:98954 Meesmann corneal dystrophy Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meesmann corneal dystrophy -MONDO:0007380 MONDO:equivalentTo Orphanet:98964 lattice corneal dystrophy type I Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lattice corneal dystrophy type i -MONDO:0007381 MONDO:equivalentTo Orphanet:293381 epithelial recurrent erosion dystrophy Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial recurrent erosion dystrophy -MONDO:0007382 MONDO:equivalentTo Orphanet:1051 Ramos-Arroyo syndrome Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ramos-arroyo syndrome -MONDO:0007384 MONDO:equivalentTo Orphanet:231013 congenital trigeminal anesthesia Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital trigeminal anesthesia -MONDO:0007385 MONDO:equivalentTo Orphanet:458718 idiopathic spontaneous coronary artery dissection Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic spontaneous coronary artery dissection -MONDO:0007388 MONDO:equivalentTo Orphanet:2391 congenitally short costocoracoid ligament Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally short costocoracoid ligament -MONDO:0007392 MONDO:equivalentTo Orphanet:1508 coxoauricular syndrome Coxoauricular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coxoauricular syndrome -MONDO:0007395 MONDO:equivalentTo Orphanet:1529 craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofacial-deafness-hand syndrome -MONDO:0007396 MONDO:equivalentTo Orphanet:1798 dysostosis, Stanescu type Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis, stanescu type -MONDO:0007398 MONDO:equivalentTo Orphanet:157832 craniorhiny Craniorhiny semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorhiny -MONDO:0007400 MONDO:equivalentTo Orphanet:1540 Jackson-Weiss syndrome Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jackson-weiss syndrome -MONDO:0007401 MONDO:equivalentTo Orphanet:1538 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-dandy-walker malformation-hydrocephalus syndrome -MONDO:0007403 MONDO:equivalentTo Orphanet:282166 inherited Creutzfeldt-Jakob disease Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited creutzfeldt-jakob disease -MONDO:0007405 MONDO:equivalentTo Orphanet:207 Crouzon syndrome Crouzon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crouzon syndrome -MONDO:0007407 MONDO:equivalentTo Orphanet:91138 Cryoglobulinemic vasculitis Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryoglobulinemic vasculitis -MONDO:0007409 MONDO:equivalentTo Orphanet:1547 cryptomicrotia-brachydactyly-excess fingertip arch syndrome Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptomicrotia-brachydactyly-excess fingertip arch syndrome -MONDO:0007410 MONDO:equivalentTo Orphanet:91396 isolated cryptophthalmia Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cryptophthalmia -MONDO:0007413 MONDO:equivalentTo Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyprus facial-neuromusculoskeletal syndrome -MONDO:0007414 MONDO:equivalentTo Orphanet:73 Gorham-Stout disease Gorham-Stout disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gorham-stout disease -MONDO:0007417 MONDO:equivalentTo Orphanet:218 Darier disease Darier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label darier disease -MONDO:0007421 MONDO:equivalentTo Orphanet:3232 deafness-ear malformation-facial palsy syndrome Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-ear malformation-facial palsy syndrome -MONDO:0007422 MONDO:equivalentTo Orphanet:494 keratoderma hereditarium mutilans Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoderma hereditarium mutilans -MONDO:0007428 MONDO:equivalentTo Orphanet:3241 deafness-craniofacial syndrome Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-craniofacial syndrome -MONDO:0007434 MONDO:equivalentTo Orphanet:412206 primary failure of tooth eruption Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary failure of tooth eruption -MONDO:0007436 MONDO:equivalentTo Orphanet:99789 dentin dysplasia type I Dentin dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia type i -MONDO:0007437 MONDO:equivalentTo Orphanet:99791 dentin dysplasia type II Dentin dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia type ii -MONDO:0007438 MONDO:equivalentTo Orphanet:99792 dentin dysplasia-sclerotic bones syndrome Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia-sclerotic bones syndrome -MONDO:0007441 MONDO:equivalentTo Orphanet:166260 dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta type 2 -MONDO:0007442 MONDO:equivalentTo Orphanet:166265 dentinogenesis imperfecta type 3 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta type 3 -MONDO:0007443 MONDO:equivalentTo Orphanet:1166 congenital unilateral hypoplasia of depressor anguli oris Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital unilateral hypoplasia of depressor anguli oris -MONDO:0007445 MONDO:equivalentTo Orphanet:86920 dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatopathia pigmentosa reticularis -MONDO:0007461 MONDO:equivalentTo Orphanet:2868 short stature-valvular heart disease-characteristic facies syndrome Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-valvular heart disease-characteristic facies syndrome -MONDO:0007470 MONDO:equivalentTo Orphanet:85192 calvarial doughnut lesions-bone fragility syndrome Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calvarial doughnut lesions-bone fragility syndrome -MONDO:0007473 MONDO:equivalentTo Orphanet:233 Duane retraction syndrome Duane retraction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane retraction syndrome -MONDO:0007478 MONDO:equivalentTo Orphanet:93325 autosomal dominant Kenny-Caffey syndrome Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant kenny-caffey syndrome -MONDO:0007482 MONDO:equivalentTo Orphanet:1765 dyschondrosteosis-nephritis syndrome Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschondrosteosis-nephritis syndrome -MONDO:0007483 MONDO:equivalentTo Orphanet:41 dyschromatosis symmetrica hereditaria Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis symmetrica hereditaria -MONDO:0007486 MONDO:equivalentTo Orphanet:352657 hereditary benign intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary benign intraepithelial dyskeratosis -MONDO:0007489 MONDO:equivalentTo Orphanet:1822 dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplasia epiphysealis hemimelica -MONDO:0007490 MONDO:equivalentTo Orphanet:2767 carpotarsal osteochondromatosis Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpotarsal osteochondromatosis -MONDO:0007492 MONDO:equivalentTo Orphanet:256 early-onset generalized limb-onset dystonia Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset generalized limb-onset dystonia -MONDO:0007504 MONDO:equivalentTo Orphanet:2405 thickened earlobes-conductive deafness syndrome Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thickened earlobes-conductive deafness syndrome -MONDO:0007507 MONDO:equivalentTo Orphanet:1658 absence of fingerprints-congenital milia syndrome Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of fingerprints-congenital milia syndrome -MONDO:0007511 MONDO:equivalentTo Orphanet:1818 ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia, trichoodontoonychial type -MONDO:0007519 MONDO:equivalentTo Orphanet:1895 Edinburgh malformation syndrome Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label edinburgh malformation syndrome -MONDO:0007529 MONDO:equivalentTo Orphanet:79148 elastosis perforans serpiginosa Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa -MONDO:0007534 MONDO:equivalentTo Orphanet:116 Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome -MONDO:0007536 MONDO:equivalentTo Orphanet:1928 congenital lobar emphysema Congenital lobar emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lobar emphysema -MONDO:0007537 MONDO:equivalentTo Orphanet:2789 lateral meningocele syndrome Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lateral meningocele syndrome -MONDO:0007540 MONDO:equivalentTo Orphanet:652 multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 1 -MONDO:0007542 MONDO:equivalentTo Orphanet:1328 Camurati-Engelmann disease Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camurati-engelmann disease -MONDO:0007558 MONDO:equivalentTo Orphanet:25968 benign occipital epilepsy Benign occipital epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign occipital epilepsy -MONDO:0007560 MONDO:equivalentTo Orphanet:166433 reading seizures Reading seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reading seizures -MONDO:0007561 MONDO:equivalentTo Orphanet:93308 multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 1 -MONDO:0007562 MONDO:equivalentTo Orphanet:166011 multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, beighton type -MONDO:0007564 MONDO:equivalentTo Orphanet:91414 pilomatrixoma Pilomatrixoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilomatrixoma -MONDO:0007565 MONDO:equivalentTo Orphanet:211 familial cylindromatosis Familial cylindromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cylindromatosis -MONDO:0007566 MONDO:equivalentTo Orphanet:65748 multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple self-healing squamous epithelioma -MONDO:0007570 MONDO:equivalentTo Orphanet:231031 erythema palmare hereditarium Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema palmare hereditarium -MONDO:0007574 MONDO:equivalentTo Orphanet:1955 spinocerebellar ataxia type 34 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 34 -MONDO:0007584 MONDO:equivalentTo Orphanet:1962 exostoses-anetodermia-brachydactyly type E syndrome Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exostoses-anetodermia-brachydactyly type e syndrome -MONDO:0007587 MONDO:equivalentTo Orphanet:3023 external auditory canal atresia-vertical talus-hypertelorism syndrome External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external auditory canal atresia-vertical talus-hypertelorism syndrome -MONDO:0007588 MONDO:equivalentTo Orphanet:1964 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrasystoles-short stature-hyperpigmentation-microcephaly syndrome -MONDO:0007592 MONDO:equivalentTo Orphanet:2809 familial recurrent peripheral facial palsy Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial recurrent peripheral facial palsy -MONDO:0007603 MONDO:equivalentTo Orphanet:47612 Felty syndrome Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome -MONDO:0007604 MONDO:equivalentTo Orphanet:1988 femoral-facial syndrome Femoral-facial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femoral-facial syndrome -MONDO:0007606 MONDO:equivalentTo Orphanet:337 fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrodysplasia ossificans progressiva -MONDO:0007608 MONDO:equivalentTo Orphanet:873 desmoid tumor Desmoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoid tumor -MONDO:0007610 MONDO:equivalentTo Orphanet:2026 gingival fibromatosis-hypertrichosis syndrome Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-hypertrichosis syndrome -MONDO:0007612 MONDO:equivalentTo Orphanet:2027 gingival fibromatosis-progressive deafness syndrome Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-progressive deafness syndrome -MONDO:0007614 MONDO:equivalentTo Orphanet:45358 congenital fibrosis of extraocular muscles Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fibrosis of extraocular muscles -MONDO:0007615 MONDO:equivalentTo Orphanet:2378 laurin-Sandrow syndrome Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laurin-sandrow syndrome -MONDO:0007618 MONDO:equivalentTo Orphanet:1937 Eng-Strom syndrome Eng-Strom syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eng-strom syndrome -MONDO:0007619 MONDO:equivalentTo Orphanet:289465 isolated congenital adermatoglyphia Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital adermatoglyphia -MONDO:0007621 MONDO:equivalentTo Orphanet:2044 Floating-Harbor syndrome Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome -MONDO:0007624 MONDO:equivalentTo Orphanet:2047 Flynn-Aird syndrome Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flynn-aird syndrome -MONDO:0007626 MONDO:equivalentTo Orphanet:91498 familial congenital palsy of trochlear nerve Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital palsy of trochlear nerve -MONDO:0007627 MONDO:equivalentTo Orphanet:79133 focal facial dermal dysplasia type I Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type i -MONDO:0007630 MONDO:equivalentTo Orphanet:75327 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label north carolina macular dystrophy -MONDO:0007635 MONDO:equivalentTo Orphanet:347 Frasier syndrome Frasier syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frasier syndrome -MONDO:0007636 MONDO:equivalentTo Orphanet:391474 frontorhiny Frontorhiny semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontorhiny -MONDO:0007639 MONDO:equivalentTo Orphanet:227796 fundus albipunctatus Fundus albipunctatus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fundus albipunctatus -MONDO:0007642 MONDO:equivalentTo Orphanet:440987 isolated agenesis of gallbladder Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated agenesis of gallbladder -MONDO:0007650 MONDO:equivalentTo Orphanet:52417 MALT lymphoma MALT lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malt lymphoma -MONDO:0007651 MONDO:equivalentTo Orphanet:2069 gastrocutaneous syndrome Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrocutaneous syndrome -MONDO:0007656 MONDO:equivalentTo Orphanet:356 Gerstmann-Straussler-Scheinker syndrome Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gerstmann-straussler-scheinker syndrome -MONDO:0007660 MONDO:equivalentTo Orphanet:435329 familial ossifying fibroma Familial ossifying fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial ossifying fibroma -MONDO:0007666 MONDO:equivalentTo Orphanet:2085 glaucoma-sleep apnea syndrome Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma-sleep apnea syndrome -MONDO:0007667 MONDO:equivalentTo Orphanet:251639 subependymoma Subependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymoma -MONDO:0007671 MONDO:equivalentTo Orphanet:84090 fibronectin glomerulopathy Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibronectin glomerulopathy -MONDO:0007672 MONDO:equivalentTo Orphanet:83454 glomuvenous malformation Glomuvenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glomuvenous malformation -MONDO:0007679 MONDO:equivalentTo Orphanet:2090 GMS syndrome GMS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gms syndrome -MONDO:0007680 MONDO:equivalentTo Orphanet:2091 multinodular goiter-cystic kidney-polydactyly syndrome Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multinodular goiter-cystic kidney-polydactyly syndrome -MONDO:0007683 MONDO:equivalentTo Orphanet:2097 Grant syndrome Grant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grant syndrome -MONDO:0007686 MONDO:equivalentTo Orphanet:721 gray platelet syndrome Gray platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gray platelet syndrome -MONDO:0007688 MONDO:equivalentTo Orphanet:2588 Myhre syndrome Myhre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myhre syndrome -MONDO:0007690 MONDO:equivalentTo Orphanet:178345 aromatase excess syndrome Aromatase excess syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatase excess syndrome -MONDO:0007696 MONDO:equivalentTo Orphanet:1927 Emery-Nelson syndrome Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emery-nelson syndrome -MONDO:0007698 MONDO:equivalentTo Orphanet:2438 hand-foot-genital syndrome Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hand-foot-genital syndrome -MONDO:0007700 MONDO:equivalentTo Orphanet:2118 hawkinsinuria Hawkinsinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hawkinsinuria -MONDO:0007702 MONDO:equivalentTo Orphanet:1342 heart-hand syndrome type 3 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome type 3 -MONDO:0007708 MONDO:equivalentTo Orphanet:2330 Kasabach-Merritt syndrome Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kasabach-merritt syndrome -MONDO:0007711 MONDO:equivalentTo Orphanet:1241 Bencze syndrome Bencze syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bencze syndrome -MONDO:0007712 MONDO:equivalentTo Orphanet:2549 oculoauriculovertebral spectrum with radial defects Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoauriculovertebral spectrum with radial defects -MONDO:0007725 MONDO:equivalentTo Orphanet:158025 hereditary progressive mucinous histiocytosis Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary progressive mucinous histiocytosis -MONDO:0007726 MONDO:equivalentTo Orphanet:2114 hip dysplasia, Beukes type Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hip dysplasia, beukes type -MONDO:0007732 MONDO:equivalentTo Orphanet:392 Holt-Oram syndrome Holt-Oram syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holt-oram syndrome -MONDO:0007735 MONDO:equivalentTo Orphanet:91413 congenital Horner syndrome Congenital Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital horner syndrome -MONDO:0007739 MONDO:equivalentTo Orphanet:399 Huntington disease Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease -MONDO:0007740 MONDO:equivalentTo Orphanet:898 Wagner disease Wagner disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wagner disease -MONDO:0007744 MONDO:equivalentTo Orphanet:79506 cholesterol-ester transfer protein deficiency Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0007747 MONDO:equivalentTo Orphanet:542657 isolated hyperchlorhidrosis Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hyperchlorhidrosis -MONDO:0007756 MONDO:equivalentTo Orphanet:409 hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkeratosis lenticularis perstans -MONDO:0007757 MONDO:equivalentTo Orphanet:1336 hyperkeratosis-hyperpigmentation syndrome Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkeratosis-hyperpigmentation syndrome -MONDO:0007758 MONDO:equivalentTo Orphanet:2199 epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolytic palmoplantar keratoderma -MONDO:0007765 MONDO:equivalentTo Orphanet:443098 hyperostosis cranialis interna Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperostosis cranialis interna -MONDO:0007766 MONDO:equivalentTo Orphanet:77296 Morgagni-Stewart-Morel syndrome Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morgagni-stewart-morel syndrome -MONDO:0007772 MONDO:equivalentTo Orphanet:88938 pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2a -MONDO:0007793 MONDO:equivalentTo Orphanet:429 hypochondroplasia Hypochondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondroplasia -MONDO:0007803 MONDO:equivalentTo Orphanet:102 multiple system atrophy Multiple system atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy -MONDO:0007804 MONDO:equivalentTo Orphanet:672 Pallister-Hall syndrome Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pallister-hall syndrome -MONDO:0007808 MONDO:equivalentTo Orphanet:79503 ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis hystrix of curth-macklin -MONDO:0007813 MONDO:equivalentTo Orphanet:455 superficial epidermolytic ichthyosis Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial epidermolytic ichthyosis -MONDO:0007820 MONDO:equivalentTo Orphanet:2287 fused mandibular incisors Fused mandibular incisors semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fused mandibular incisors -MONDO:0007827 MONDO:equivalentTo Orphanet:611 inclusion body myositis Inclusion body myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis -MONDO:0007836 MONDO:equivalentTo Orphanet:2307 IVIC syndrome IVIC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ivic syndrome -MONDO:0007837 MONDO:equivalentTo Orphanet:2316 Johnson neuroectodermal syndrome Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label johnson neuroectodermal syndrome -MONDO:0007838 MONDO:equivalentTo Orphanet:2308 Jacobsen syndrome Jacobsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jacobsen syndrome -MONDO:0007839 MONDO:equivalentTo Orphanet:916 Aase-Smith syndrome Aase-Smith syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aase-smith syndrome -MONDO:0007841 MONDO:equivalentTo Orphanet:1509 coxopodopatellar syndrome Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coxopodopatellar syndrome -MONDO:0007846 MONDO:equivalentTo Orphanet:2332 KBG syndrome KBG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kbg syndrome -MONDO:0007848 MONDO:equivalentTo Orphanet:2334 autosomal dominant keratitis Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant keratitis -MONDO:0007852 MONDO:equivalentTo Orphanet:2202 palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-deafness syndrome -MONDO:0007853 MONDO:equivalentTo Orphanet:538574 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome -MONDO:0007854 MONDO:equivalentTo Orphanet:50943 keratolytic winter erythema Keratolytic winter erythema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratolytic winter erythema -MONDO:0007856 MONDO:equivalentTo Orphanet:2198 palmoplantar keratoderma-esophageal carcinoma syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-esophageal carcinoma syndrome -MONDO:0007857 MONDO:equivalentTo Orphanet:86919 keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmaris et plantaris-clinodactyly syndrome -MONDO:0007860 MONDO:equivalentTo Orphanet:2200 focal palmoplantar and gingival keratoderma Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar and gingival keratoderma -MONDO:0007862 MONDO:equivalentTo Orphanet:896 Waardenburg syndrome type 3 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 3 -MONDO:0007863 MONDO:equivalentTo Orphanet:33543 Kleine-Levin syndrome Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleine-levin syndrome -MONDO:0007864 MONDO:equivalentTo Orphanet:2346 angioosteohypertrophic syndrome Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioosteohypertrophic syndrome -MONDO:0007871 MONDO:equivalentTo Orphanet:451612 familial congenital nasolacrimal duct obstruction Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital nasolacrimal duct obstruction -MONDO:0007875 MONDO:equivalentTo Orphanet:503 Larsen syndrome Larsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen syndrome -MONDO:0007876 MONDO:equivalentTo Orphanet:2808 laryngeal abductor paralysis Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis -MONDO:0007878 MONDO:equivalentTo Orphanet:2373 congenital laryngomalacia Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia -MONDO:0007879 MONDO:equivalentTo Orphanet:1202 larynx atresia Larynx atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larynx atresia -MONDO:0007880 MONDO:equivalentTo Orphanet:2374 congenital laryngeal web Congenital laryngeal web semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal web -MONDO:0007888 MONDO:equivalentTo Orphanet:523 hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary leiomyomatosis and renal cell cancer -MONDO:0007891 MONDO:equivalentTo Orphanet:231040 familial generalized lentiginosis Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial generalized lentiginosis -MONDO:0007892 MONDO:equivalentTo Orphanet:2658 Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lenz-majewski hyperostotic dwarfism -MONDO:0007893 MONDO:equivalentTo Orphanet:500 Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome with multiple lentigines -MONDO:0007894 MONDO:equivalentTo Orphanet:2900 Leri pleonosteosis Leri pleonosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leri pleonosteosis -MONDO:0007895 MONDO:equivalentTo Orphanet:85166 platyspondylic dysplasia, Torrance type Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label platyspondylic dysplasia, torrance type -MONDO:0007904 MONDO:equivalentTo Orphanet:2699 median nodule of the upper lip Median nodule of the upper lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median nodule of the upper lip -MONDO:0007906 MONDO:equivalentTo Orphanet:2348 familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial lipodystrophy, dunnigan type -MONDO:0007908 MONDO:equivalentTo Orphanet:2398 multiple symmetric lipomatosis Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple symmetric lipomatosis -MONDO:0007909 MONDO:equivalentTo Orphanet:199276 familial multiple lipomatosis Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple lipomatosis -MONDO:0007915 MONDO:equivalentTo Orphanet:536 systemic lupus erythematosus Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus -MONDO:0007916 MONDO:equivalentTo Orphanet:90362 primary intestinal lymphangiectasia Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intestinal lymphangiectasia -MONDO:0007921 MONDO:equivalentTo Orphanet:662 yellow nail syndrome Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome -MONDO:0007922 MONDO:equivalentTo Orphanet:33001 lymphedema-distichiasis syndrome Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-distichiasis syndrome -MONDO:0007924 MONDO:equivalentTo Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bannayan-riley-ruvalcaba syndrome -MONDO:0007927 MONDO:equivalentTo Orphanet:2430 congenital macroglossia Congenital macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital macroglossia -MONDO:0007934 MONDO:equivalentTo Orphanet:251287 benign concentric annular macular dystrophy Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign concentric annular macular dystrophy -MONDO:0007947 MONDO:equivalentTo Orphanet:558 Marfan syndrome Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome -MONDO:0007949 MONDO:equivalentTo Orphanet:560 Marshall syndrome Marshall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marshall syndrome -MONDO:0007950 MONDO:equivalentTo Orphanet:98292 mastocytosis Mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mastocytosis -MONDO:0007956 MONDO:equivalentTo Orphanet:1993 Pai syndrome Pai syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pai syndrome -MONDO:0007958 MONDO:equivalentTo Orphanet:99361 familial medullary thyroid carcinoma Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial medullary thyroid carcinoma -MONDO:0007959 MONDO:equivalentTo Orphanet:616 medulloblastoma Medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medulloblastoma -MONDO:0007967 MONDO:equivalentTo Orphanet:252206 melanoma and neural system tumor syndrome Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma and neural system tumor syndrome -MONDO:0007969 MONDO:equivalentTo Orphanet:2483 Melkersson-Rosenthal syndrome Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melkersson-rosenthal syndrome -MONDO:0007970 MONDO:equivalentTo Orphanet:2485 melorheostosis Melorheostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melorheostosis -MONDO:0007971 MONDO:equivalentTo Orphanet:3034 delayed membranous cranial ossification Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delayed membranous cranial ossification -MONDO:0007977 MONDO:equivalentTo Orphanet:1836 mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia, kantaputra type -MONDO:0007979 MONDO:equivalentTo Orphanet:2499 metachondromatosis Metachondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachondromatosis -MONDO:0007982 MONDO:equivalentTo Orphanet:33067 metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, jansen type -MONDO:0007984 MONDO:equivalentTo Orphanet:2504 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome -MONDO:0007986 MONDO:equivalentTo Orphanet:2635 metatropic dysplasia Metatropic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia -MONDO:0007987 MONDO:equivalentTo Orphanet:485 Kniest dysplasia Kniest dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kniest dysplasia -MONDO:0007988 MONDO:equivalentTo Orphanet:2514 autosomal dominant primary microcephaly Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant primary microcephaly -MONDO:0007989 MONDO:equivalentTo Orphanet:566 congenital microcoria Congenital microcoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital microcoria -MONDO:0007990 MONDO:equivalentTo Orphanet:2505 multiple benign circumferential skin creases on limbs Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple benign circumferential skin creases on limbs -MONDO:0007991 MONDO:equivalentTo Orphanet:2533 microcephaly-deafness-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-deafness-intellectual disability syndrome -MONDO:0007992 MONDO:equivalentTo Orphanet:2536 microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcornea-glaucoma-absent frontal sinuses syndrome -MONDO:0007993 MONDO:equivalentTo Orphanet:2538 microgastria-limb reduction defect syndrome Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microgastria-limb reduction defect syndrome -MONDO:0007998 MONDO:equivalentTo Orphanet:2551 microspherophakia-metaphyseal dysplasia syndrome Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microspherophakia-metaphyseal dysplasia syndrome -MONDO:0008003 MONDO:equivalentTo Orphanet:254892 autosomal dominant progressive external ophthalmoplegia Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant progressive external ophthalmoplegia -MONDO:0008004 MONDO:equivalentTo Orphanet:741 familial mitral valve prolapse Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mitral valve prolapse -MONDO:0008005 MONDO:equivalentTo Orphanet:3238 cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome -MONDO:0008008 MONDO:equivalentTo Orphanet:2563 MOMO syndrome MOMO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label momo syndrome -MONDO:0008009 MONDO:equivalentTo Orphanet:573 monilethrix Monilethrix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monilethrix -MONDO:0008016 MONDO:equivalentTo Orphanet:3377 trismus-pseudocamptodactyly syndrome Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trismus-pseudocamptodactyly syndrome -MONDO:0008017 MONDO:equivalentTo Orphanet:1839 hereditary mucoepithelial dysplasia Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary mucoepithelial dysplasia -MONDO:0008018 MONDO:equivalentTo Orphanet:587 Muir-Torre syndrome Muir-Torre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muir-torre syndrome -MONDO:0008023 MONDO:equivalentTo Orphanet:2579 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome -MONDO:0008029 MONDO:equivalentTo Orphanet:610 Bethlem myopathy Bethlem myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy -MONDO:0008038 MONDO:equivalentTo Orphanet:2585 ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome -MONDO:0008039 MONDO:equivalentTo Orphanet:289326 tropical spastic paraparesis Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical spastic paraparesis -MONDO:0008040 MONDO:equivalentTo Orphanet:420611 transient myeloproliferative syndrome Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient myeloproliferative syndrome -MONDO:0008043 MONDO:equivalentTo Orphanet:2589 myoclonus-cerebellar ataxia-deafness syndrome Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonus-cerebellar ataxia-deafness syndrome -MONDO:0008045 MONDO:equivalentTo Orphanet:2590 spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy-progressive myoclonic epilepsy syndrome -MONDO:0008046 MONDO:equivalentTo Orphanet:99846 autosomal dominant myoglobinuria Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant myoglobinuria -MONDO:0008047 MONDO:equivalentTo Orphanet:37612 episodic ataxia type 1 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 1 -MONDO:0008048 MONDO:equivalentTo Orphanet:169189 autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant centronuclear myopathy -MONDO:0008051 MONDO:equivalentTo Orphanet:2593 tubular aggregate myopathy Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubular aggregate myopathy -MONDO:0008054 MONDO:equivalentTo Orphanet:93672 juvenile dermatomyositis Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis -MONDO:0008058 MONDO:equivalentTo Orphanet:171886 cylindrical spirals myopathy Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cylindrical spirals myopathy -MONDO:0008059 MONDO:equivalentTo Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label naegeli-franceschetti-jadassohn syndrome -MONDO:0008061 MONDO:equivalentTo Orphanet:2614 nail-patella syndrome Nail-patella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail-patella syndrome -MONDO:0008071 MONDO:equivalentTo Orphanet:88659 autosomal dominant progressive nephropathy with hypertension Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant progressive nephropathy with hypertension -MONDO:0008082 MONDO:equivalentTo Orphanet:247709 multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2b -MONDO:0008087 MONDO:equivalentTo Orphanet:640 hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neuropathy with liability to pressure palsies -MONDO:0008092 MONDO:equivalentTo Orphanet:279943 hereditary neutrophilia Hereditary neutrophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neutrophilia -MONDO:0008094 MONDO:equivalentTo Orphanet:624 familial multiple nevi flammei Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple nevi flammei -MONDO:0008101 MONDO:equivalentTo Orphanet:2456 familial supernumerary nipples Familial supernumerary nipples semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial supernumerary nipples -MONDO:0008108 MONDO:equivalentTo Orphanet:1647 oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebrocutaneous syndrome -MONDO:0008109 MONDO:equivalentTo Orphanet:99922 ocular cicatricial pemphigoid Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cicatricial pemphigoid -MONDO:0008111 MONDO:equivalentTo Orphanet:2710 oculodentodigital dysplasia Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculodentodigital dysplasia -MONDO:0008113 MONDO:equivalentTo Orphanet:2353 Schilbach-Rott syndrome Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schilbach-rott syndrome -MONDO:0008115 MONDO:equivalentTo Orphanet:391641 Feingold syndrome type 1 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome type 1 -MONDO:0008116 MONDO:equivalentTo Orphanet:270 oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy -MONDO:0008118 MONDO:equivalentTo Orphanet:2724 odontomatosis-aortae esophagus stenosis syndrome Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontomatosis-aortae esophagus stenosis syndrome -MONDO:0008119 MONDO:equivalentTo Orphanet:98755 spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 1 -MONDO:0008123 MONDO:equivalentTo Orphanet:93328 autosomal dominant omodysplasia Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant omodysplasia -MONDO:0008127 MONDO:equivalentTo Orphanet:2741 ophthalmomandibulomelic dysplasia Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmomandibulomelic dysplasia -MONDO:0008130 MONDO:equivalentTo Orphanet:2743 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmoplegia-intellectual disability-lingua scrotalis syndrome -MONDO:0008134 MONDO:equivalentTo Orphanet:98673 autosomal dominant optic atrophy, classic form Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy, classic form +MONDO:0004672 MONDO:equivalentTo Orphanet:658909 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis +MONDO:0005705 MONDO:equivalentTo Orphanet:658917 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis +MONDO:0005895 MONDO:equivalentTo Orphanet:658913 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis MONDO:0008136 MONDO:equivalentTo Orphanet:637061 isolated optic nerve hypoplasia Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia -MONDO:0008138 MONDO:equivalentTo Orphanet:98606 syndromic orbital border hypoplasia Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic orbital border hypoplasia -MONDO:0008139 MONDO:equivalentTo Orphanet:2760 OSLAM syndrome OSLAM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oslam syndrome -MONDO:0008142 MONDO:equivalentTo Orphanet:3314 Thiemann disease, familial form Thiemann disease, familial form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiemann disease, familial form -MONDO:0008145 MONDO:equivalentTo Orphanet:296 Ollier disease Ollier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ollier disease -MONDO:0008146 MONDO:equivalentTo Orphanet:216796 osteogenesis imperfecta type 1 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 1 -MONDO:0008147 MONDO:equivalentTo Orphanet:216804 osteogenesis imperfecta type 2 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 2 -MONDO:0008148 MONDO:equivalentTo Orphanet:216820 osteogenesis imperfecta type 4 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 4 -MONDO:0008151 MONDO:equivalentTo Orphanet:53697 gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnathodiaphyseal dysplasia -MONDO:0008152 MONDO:equivalentTo Orphanet:2774 multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric carpo-tarsal osteolysis with or without nephropathy -MONDO:0008153 MONDO:equivalentTo Orphanet:2762 progressive osseous heteroplasia Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive osseous heteroplasia -MONDO:0008155 MONDO:equivalentTo Orphanet:2777 osteomesopyknosis Osteomesopyknosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomesopyknosis -MONDO:0008158 MONDO:equivalentTo Orphanet:1562 dacryocystitis-osteopoikilosis syndrome Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryocystitis-osteopoikilosis syndrome -MONDO:0008161 MONDO:equivalentTo Orphanet:2791 otodental syndrome Otodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otodental syndrome -MONDO:0008163 MONDO:equivalentTo Orphanet:2792 otofaciocervical syndrome Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otofaciocervical syndrome -MONDO:0008165 MONDO:equivalentTo Orphanet:98868 southeast Asian ovalocytosis Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label southeast asian ovalocytosis -MONDO:0008168 MONDO:equivalentTo Orphanet:314473 ovarian fibroma Ovarian fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian fibroma -MONDO:0008170 MONDO:equivalentTo Orphanet:213500 ovarian cancer Ovarian cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cancer -MONDO:0008177 MONDO:equivalentTo Orphanet:2800 extramammary Paget disease Extramammary Paget disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramammary paget disease -MONDO:0008179 MONDO:equivalentTo Orphanet:46348 paroxysmal extreme pain disorder Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal extreme pain disorder -MONDO:0008180 MONDO:equivalentTo Orphanet:2291 congenital velopharyngeal incompetence Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital velopharyngeal incompetence -MONDO:0008182 MONDO:equivalentTo Orphanet:2399 nasopalpebral lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008183 MONDO:equivalentTo Orphanet:675 annular pancreas Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas -MONDO:0008185 MONDO:equivalentTo Orphanet:676 hereditary chronic pancreatitis Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary chronic pancreatitis -MONDO:0008195 MONDO:equivalentTo Orphanet:684 paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramyotonia congenita of von eulenburg -MONDO:0008196 MONDO:equivalentTo Orphanet:2646 parastremmatic dwarfism Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parastremmatic dwarfism -MONDO:0008201 MONDO:equivalentTo Orphanet:178509 Perry syndrome Perry syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perry syndrome -MONDO:0008205 MONDO:equivalentTo Orphanet:86789 patella aplasia/hypoplasia Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patella aplasia/hypoplasia -MONDO:0008206 MONDO:equivalentTo Orphanet:1179 benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign paroxysmal tonic upgaze of childhood with ataxia -MONDO:0008209 MONDO:equivalentTo Orphanet:46627 Char syndrome Char syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label char syndrome -MONDO:0008211 MONDO:equivalentTo Orphanet:2976 pseudoleprechaunism syndrome, Patterson type Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoleprechaunism syndrome, patterson type -MONDO:0008217 MONDO:equivalentTo Orphanet:2839 pelvis-shoulder dysplasia Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvis-shoulder dysplasia -MONDO:0008219 MONDO:equivalentTo Orphanet:704 pemphigus vulgaris Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris -MONDO:0008221 MONDO:equivalentTo Orphanet:742 prolidase deficiency Prolidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prolidase deficiency -MONDO:0008222 MONDO:equivalentTo Orphanet:37553 Andersen-Tawil syndrome Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label andersen-tawil syndrome -MONDO:0008223 MONDO:equivalentTo Orphanet:681 hypokalemic periodic paralysis Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypokalemic periodic paralysis -MONDO:0008224 MONDO:equivalentTo Orphanet:682 hyperkalemic periodic paralysis Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkalemic periodic paralysis -MONDO:0008227 MONDO:equivalentTo Orphanet:1795 peripheral dysostosis Peripheral dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral dysostosis -MONDO:0008234 MONDO:equivalentTo Orphanet:247698 multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2a -MONDO:0008237 MONDO:equivalentTo Orphanet:2878 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome -MONDO:0008244 MONDO:equivalentTo Orphanet:2884 piebaldism Piebaldism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piebaldism -MONDO:0008245 MONDO:equivalentTo Orphanet:2885 piebald trait-neurologic defects syndrome Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piebald trait-neurologic defects syndrome -MONDO:0008246 MONDO:equivalentTo Orphanet:251295 pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigmented paravenous retinochoroidal atrophy -MONDO:0008247 MONDO:equivalentTo Orphanet:3104 Robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robin sequence-oligodactyly syndrome -MONDO:0008250 MONDO:equivalentTo Orphanet:231679 isolated growth hormone deficiency type II Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ii -MONDO:0008259 MONDO:equivalentTo Orphanet:2903 familial spontaneous pneumothorax Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial spontaneous pneumothorax -MONDO:0008261 MONDO:equivalentTo Orphanet:221039 hereditary sclerosing poikiloderma, Weary type Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sclerosing poikiloderma, weary type -MONDO:0008262 MONDO:equivalentTo Orphanet:2911 Poland syndrome Poland syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poland syndrome -MONDO:0008268 MONDO:equivalentTo Orphanet:2917 polydactyly-myopia syndrome Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly-myopia syndrome -MONDO:0008270 MONDO:equivalentTo Orphanet:93336 polydactyly of a triphalangeal thumb Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly of a triphalangeal thumb -MONDO:0008271 MONDO:equivalentTo Orphanet:93337 polydactyly of an index finger Polydactyly of an index finger semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly of an index finger -MONDO:0008273 MONDO:equivalentTo Orphanet:330061 actinic prurigo Actinic prurigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic prurigo -MONDO:0008274 MONDO:equivalentTo Orphanet:93276 polyostotic fibrous dysplasia Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia -MONDO:0008275 MONDO:equivalentTo Orphanet:85195 familial expansile osteolysis Familial expansile osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial expansile osteolysis -MONDO:0008276 MONDO:equivalentTo Orphanet:329971 generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized juvenile polyposis/juvenile polyposis coli -MONDO:0008280 MONDO:equivalentTo Orphanet:2869 Peutz-Jeghers syndrome Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peutz-jeghers syndrome -MONDO:0008283 MONDO:equivalentTo Orphanet:2930 Cronkhite-Canada syndrome Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cronkhite-canada syndrome -MONDO:0008286 MONDO:equivalentTo Orphanet:2935 crossed polysyndactyly Crossed polysyndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crossed polysyndactyly -MONDO:0008287 MONDO:equivalentTo Orphanet:380 Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label greig cephalopolysyndactyly syndrome -MONDO:0008291 MONDO:equivalentTo Orphanet:737 porokeratosis plantaris palmaris et disseminata Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis plantaris palmaris et disseminata -MONDO:0008292 MONDO:equivalentTo Orphanet:79502 punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma type 2 -MONDO:0008294 MONDO:equivalentTo Orphanet:79276 acute intermittent porphyria Acute intermittent porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute intermittent porphyria -MONDO:0008295 MONDO:equivalentTo Orphanet:443057 sporadic porphyria cutanea tarda Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic porphyria cutanea tarda -MONDO:0008296 MONDO:equivalentTo Orphanet:443062 familial porphyria cutanea tarda Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial porphyria cutanea tarda -MONDO:0008298 MONDO:equivalentTo Orphanet:2730 postaxial tetramelic oligodactyly Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial tetramelic oligodactyly -MONDO:0008300 MONDO:equivalentTo Orphanet:739 Prader-Willi syndrome Prader-Willi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome -MONDO:0008301 MONDO:equivalentTo Orphanet:2957 Guttmacher syndrome Guttmacher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttmacher syndrome -MONDO:0008306 MONDO:equivalentTo Orphanet:97345 ABri amyloidosis ABri amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abri amyloidosis -MONDO:0008310 MONDO:equivalentTo Orphanet:740 Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hutchinson-gilford progeria syndrome -MONDO:0008311 MONDO:equivalentTo Orphanet:2959 progeria-short stature-pigmented nevi syndrome Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria-short stature-pigmented nevi syndrome -MONDO:0008312 MONDO:equivalentTo Orphanet:2964 autosomal dominant prognathism Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant prognathism -MONDO:0008318 MONDO:equivalentTo Orphanet:744 Proteus syndrome Proteus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus syndrome -MONDO:0008322 MONDO:equivalentTo Orphanet:750 pseudoachondroplasia Pseudoachondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoachondroplasia -MONDO:0008323 MONDO:equivalentTo Orphanet:526 Liddle syndrome Liddle syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liddle syndrome -MONDO:0008335 MONDO:equivalentTo Orphanet:2994 short stature-craniofacial anomalies-genital hypoplasia syndrome Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-craniofacial anomalies-genital hypoplasia syndrome -MONDO:0008337 MONDO:equivalentTo Orphanet:2989 familial pterygium of the conjunctiva Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pterygium of the conjunctiva -MONDO:0008339 MONDO:equivalentTo Orphanet:2987 antecubital pterygium syndrome Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antecubital pterygium syndrome -MONDO:0008341 MONDO:equivalentTo Orphanet:2999 ptosis-strabismus-ectopic pupils syndrome Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-strabismus-ectopic pupils syndrome -MONDO:0008343 MONDO:equivalentTo Orphanet:1207 pulmonary atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary atresia with ventricular septal defect -MONDO:0008348 MONDO:equivalentTo Orphanet:60026 pulmonary nodular lymphoid hyperplasia Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary nodular lymphoid hyperplasia -MONDO:0008353 MONDO:equivalentTo Orphanet:64745 pruritic urticarial papules and plaques of pregnancy Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pruritic urticarial papules and plaques of pregnancy -MONDO:0008357 MONDO:equivalentTo Orphanet:2252 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome -MONDO:0008358 MONDO:equivalentTo Orphanet:3026 radial ray hypoplasia-choanal atresia syndrome Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial ray hypoplasia-choanal atresia syndrome -MONDO:0008359 MONDO:equivalentTo Orphanet:3015 radio-renal syndrome Radio-renal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-renal syndrome -MONDO:0008365 MONDO:equivalentTo Orphanet:96167 recombinant 8 syndrome Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recombinant 8 syndrome -MONDO:0008368 MONDO:equivalentTo Orphanet:93608 autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal renal tubular acidosis -MONDO:0008369 MONDO:equivalentTo Orphanet:47159 proximal renal tubular acidosis Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis -MONDO:0008371 MONDO:equivalentTo Orphanet:79145 Dowling-Degos disease Dowling-Degos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dowling-degos disease -MONDO:0008373 MONDO:equivalentTo Orphanet:75326 retinal arterial tortuosity Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal arterial tortuosity -MONDO:0008380 MONDO:equivalentTo Orphanet:790 retinoblastoma Retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma -MONDO:0008387 MONDO:equivalentTo Orphanet:91481 ring dermoid of cornea Ring dermoid of cornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring dermoid of cornea -MONDO:0008388 MONDO:equivalentTo Orphanet:169 ringed hair disease Ringed hair disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ringed hair disease -MONDO:0008389 MONDO:equivalentTo Orphanet:3107 autosomal dominant Robinow syndrome Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant robinow syndrome -MONDO:0008390 MONDO:equivalentTo Orphanet:3110 Rombo syndrome Rombo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rombo syndrome -MONDO:0008393 MONDO:equivalentTo Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to crebbp mutations -MONDO:0008394 MONDO:equivalentTo Orphanet:813 Silver-Russell syndrome Silver-Russell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome -MONDO:0008395 MONDO:equivalentTo Orphanet:3121 Ruvalcaba syndrome Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ruvalcaba syndrome -MONDO:0008396 MONDO:equivalentTo Orphanet:2709 oculodental syndrome, Rutherfurd type Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculodental syndrome, rutherfurd type -MONDO:0008397 MONDO:equivalentTo Orphanet:86815 aplasia of lacrimal and salivary glands Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia of lacrimal and salivary glands -MONDO:0008402 MONDO:equivalentTo Orphanet:2013 cleft palate-large ears-small head syndrome Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-large ears-small head syndrome -MONDO:0008403 MONDO:equivalentTo Orphanet:1003 scalp defects-postaxial polydactyly syndrome Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp defects-postaxial polydactyly syndrome -MONDO:0008404 MONDO:equivalentTo Orphanet:2036 scalp-ear-nipple syndrome Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp-ear-nipple syndrome -MONDO:0008407 MONDO:equivalentTo Orphanet:85146 neurogenic scapuloperoneal syndrome, Kaeser type Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurogenic scapuloperoneal syndrome, kaeser type -MONDO:0008411 MONDO:equivalentTo Orphanet:3138 ulnar-mammary syndrome Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar-mammary syndrome -MONDO:0008421 MONDO:equivalentTo Orphanet:1968 flat face-microstomia-ear anomaly syndrome Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flat face-microstomia-ear anomaly syndrome -MONDO:0008425 MONDO:equivalentTo Orphanet:3164 omphalocele syndrome, Shprintzen-Goldberg type Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele syndrome, shprintzen-goldberg type -MONDO:0008426 MONDO:equivalentTo Orphanet:2462 Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shprintzen-goldberg syndrome -MONDO:0008429 MONDO:equivalentTo Orphanet:85191 Singleton-Merten dysplasia Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label singleton-merten dysplasia -MONDO:0008434 MONDO:equivalentTo Orphanet:819 Smith-Magenis syndrome Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-magenis syndrome -MONDO:0008436 MONDO:equivalentTo Orphanet:820 Sneddon syndrome Sneddon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sneddon syndrome -MONDO:0008440 MONDO:equivalentTo Orphanet:2820 spastic paraplegia-nephritis-deafness syndrome Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-nephritis-deafness syndrome -MONDO:0008442 MONDO:equivalentTo Orphanet:2821 spastic paraplegia-neuropathy-poikiloderma syndrome Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-neuropathy-poikiloderma syndrome -MONDO:0008443 MONDO:equivalentTo Orphanet:2826 spastic paraplegia-precocious puberty syndrome Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-precocious puberty syndrome -MONDO:0008445 MONDO:equivalentTo Orphanet:3038 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome -MONDO:0008457 MONDO:equivalentTo Orphanet:98758 spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 6 -MONDO:0008458 MONDO:equivalentTo Orphanet:98756 spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 2 -MONDO:0008460 MONDO:equivalentTo Orphanet:2063 splenogonadal fusion-limb defects-micrognathia syndrome Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenogonadal fusion-limb defects-micrognathia syndrome -MONDO:0008465 MONDO:equivalentTo Orphanet:2439 Patterson-Stevenson-Fontaine syndrome Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patterson-stevenson-fontaine syndrome -MONDO:0008466 MONDO:equivalentTo Orphanet:2329 Karsch-Neugebauer syndrome Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karsch-neugebauer syndrome -MONDO:0008467 MONDO:equivalentTo Orphanet:2437 Czeizel-Losonci syndrome Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label czeizel-losonci syndrome -MONDO:0008469 MONDO:equivalentTo Orphanet:168443 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-hypotrichosis syndrome -MONDO:0008471 MONDO:equivalentTo Orphanet:94068 spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia congenita -MONDO:0008472 MONDO:equivalentTo Orphanet:163668 spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, macdermot type -MONDO:0008477 MONDO:equivalentTo Orphanet:93314 spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, kozlowski type -MONDO:0008478 MONDO:equivalentTo Orphanet:93316 spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, schmidt type -MONDO:0008479 MONDO:equivalentTo Orphanet:93315 spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, 'corner fracture' type -MONDO:0008482 MONDO:equivalentTo Orphanet:3181 Sprengel deformity Sprengel deformity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sprengel deformity -MONDO:0008484 MONDO:equivalentTo Orphanet:140917 stapes ankylosis with broad thumbs and toes Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stapes ankylosis with broad thumbs and toes -MONDO:0008485 MONDO:equivalentTo Orphanet:841 sebocystomatosis Sebocystomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sebocystomatosis -MONDO:0008486 MONDO:equivalentTo Orphanet:3184 steatocystoma multiplex-natal teeth syndrome Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steatocystoma multiplex-natal teeth syndrome -MONDO:0008488 MONDO:equivalentTo Orphanet:3186 holoprosencephaly-radial heart renal anomalies syndrome Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-radial heart renal anomalies syndrome -MONDO:0008492 MONDO:equivalentTo Orphanet:2833 stiff skin syndrome Stiff skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stiff skin syndrome -MONDO:0008493 MONDO:equivalentTo Orphanet:3203 overhydrated hereditary stomatocytosis Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overhydrated hereditary stomatocytosis -MONDO:0008499 MONDO:equivalentTo Orphanet:2863 short stature-wormian bones-dextrocardia syndrome Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-wormian bones-dextrocardia syndrome -MONDO:0008501 MONDO:equivalentTo Orphanet:3205 Sturge-Weber syndrome Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sturge-weber syndrome -MONDO:0008503 MONDO:equivalentTo Orphanet:3465 Worster-Drought syndrome Worster-Drought syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label worster-drought syndrome -MONDO:0008504 MONDO:equivalentTo Orphanet:3193 supravalvular aortic stenosis Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular aortic stenosis -MONDO:0008509 MONDO:equivalentTo Orphanet:3248 distal symphalangism Distal symphalangism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal symphalangism -MONDO:0008510 MONDO:equivalentTo Orphanet:3246 symphalangism with multiple anomalies of hands and feet Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symphalangism with multiple anomalies of hands and feet -MONDO:0008511 MONDO:equivalentTo Orphanet:3250 proximal symphalangism Proximal symphalangism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal symphalangism -MONDO:0008512 MONDO:equivalentTo Orphanet:93402 syndactyly type 1 Syndactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 1 -MONDO:0008513 MONDO:equivalentTo Orphanet:295195 synpolydactyly type 1 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 1 -MONDO:0008514 MONDO:equivalentTo Orphanet:93404 syndactyly type 3 Syndactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 3 -MONDO:0008515 MONDO:equivalentTo Orphanet:93405 syndactyly type 4 Syndactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 4 -MONDO:0008516 MONDO:equivalentTo Orphanet:93406 syndactyly type 5 Syndactyly type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 5 -MONDO:0008517 MONDO:equivalentTo Orphanet:3259 syndactyly-polydactyly-ear lobe syndrome Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-polydactyly-ear lobe syndrome -MONDO:0008520 MONDO:equivalentTo Orphanet:1275 brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-elbow wrist dysplasia syndrome -MONDO:0008521 MONDO:equivalentTo Orphanet:1412 tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal-carpal coalition syndrome -MONDO:0008523 MONDO:equivalentTo Orphanet:90340 Blau syndrome Blau syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blau syndrome -MONDO:0008534 MONDO:equivalentTo Orphanet:280774 generalized essential telangiectasia Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized essential telangiectasia -MONDO:0008540 MONDO:equivalentTo Orphanet:3294 extensor tendons of finger anomalies Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensor tendons of finger anomalies -MONDO:0008542 MONDO:equivalentTo Orphanet:3303 tetralogy of fallot Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot -MONDO:0008544 MONDO:equivalentTo Orphanet:2564 tetramelic monodactyly Tetramelic monodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetramelic monodactyly -MONDO:0008546 MONDO:equivalentTo Orphanet:1860 thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia type 1 -MONDO:0008547 MONDO:equivalentTo Orphanet:93274 thanatophoric dysplasia type 2 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia type 2 -MONDO:0008551 MONDO:equivalentTo Orphanet:3317 thoracolaryngopelvic dysplasia Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracolaryngopelvic dysplasia -MONDO:0008557 MONDO:equivalentTo Orphanet:851 Paris-Trousseau thrombocytopenia Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paris-trousseau thrombocytopenia -MONDO:0008562 MONDO:equivalentTo Orphanet:2251 thumb deformity-alopecia-pigmentation anomaly syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thumb deformity-alopecia-pigmentation anomaly syndrome -MONDO:0008563 MONDO:equivalentTo Orphanet:1078 thumb stiffness-brachydactyly-intellectual disability syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thumb stiffness-brachydactyly-intellectual disability syndrome -MONDO:0008565 MONDO:equivalentTo Orphanet:93953 familial thyroglossal duct cyst Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroglossal duct cyst -MONDO:0008585 MONDO:equivalentTo Orphanet:244242 HELLP syndrome HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome -MONDO:0008587 MONDO:equivalentTo Orphanet:3348 tracheobronchopathia osteochondroplastica Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheobronchopathia osteochondroplastica -MONDO:0008588 MONDO:equivalentTo Orphanet:53372 hereditary geniospasm Hereditary geniospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary geniospasm -MONDO:0008591 MONDO:equivalentTo Orphanet:3350 tremor-nystagmus-duodenal ulcer syndrome Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tremor-nystagmus-duodenal ulcer syndrome -MONDO:0008592 MONDO:equivalentTo Orphanet:3352 tricho-dento-osseous syndrome Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricho-dento-osseous syndrome -MONDO:0008594 MONDO:equivalentTo Orphanet:538756 familial multiple discoid fibromas Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple discoid fibromas -MONDO:0008598 MONDO:equivalentTo Orphanet:3361 trichodysplasia-xeroderma syndrome Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodysplasia-xeroderma syndrome -MONDO:0008599 MONDO:equivalentTo Orphanet:221091 trigeminal neuralgia Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia -MONDO:0008607 MONDO:equivalentTo Orphanet:2947 triphalangeal thumbs-brachyectrodactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triphalangeal thumbs-brachyectrodactyly syndrome -MONDO:0008608 MONDO:equivalentTo Orphanet:870 Down syndrome Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome -MONDO:0008611 MONDO:equivalentTo Orphanet:3383 humerus trochlea aplasia Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humerus trochlea aplasia -MONDO:0008618 MONDO:equivalentTo Orphanet:2634 mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dwarfism, reinhardt-pfeiffer type -MONDO:0008619 MONDO:equivalentTo Orphanet:1837 ulna metaphyseal dysplasia syndrome Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulna metaphyseal dysplasia syndrome -MONDO:0008620 MONDO:equivalentTo Orphanet:2497 upper limb mesomelic dysplasia Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb mesomelic dysplasia -MONDO:0008621 MONDO:equivalentTo Orphanet:1410 uncombable hair syndrome Uncombable hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uncombable hair syndrome -MONDO:0008622 MONDO:equivalentTo Orphanet:1264 tricho-retino-dento-digital syndrome Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricho-retino-dento-digital syndrome -MONDO:0008624 MONDO:equivalentTo Orphanet:3408 Upington disease Upington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upington disease -MONDO:0008633 MONDO:equivalentTo Orphanet:575 Muckle-Wells syndrome Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muckle-wells syndrome -MONDO:0008636 MONDO:equivalentTo Orphanet:3411 double uterus-hemivagina-renal agenesis syndrome Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double uterus-hemivagina-renal agenesis syndrome -MONDO:0008637 MONDO:equivalentTo Orphanet:99771 bifid uvula Bifid uvula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bifid uvula -MONDO:0008641 MONDO:equivalentTo Orphanet:247691 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -MONDO:0008642 MONDO:equivalentTo Orphanet:887 VACTERL/vater association VACTERL/VATER association semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vacterl/vater association -MONDO:0008645 MONDO:equivalentTo Orphanet:3201 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome -MONDO:0008650 MONDO:equivalentTo Orphanet:2064 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome -MONDO:0008652 MONDO:equivalentTo Orphanet:178382 congenital vertical talus Congenital vertical talus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus -MONDO:0008659 MONDO:equivalentTo Orphanet:2967 transcobalamin I deficiency Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin i deficiency -MONDO:0008660 MONDO:equivalentTo Orphanet:89937 autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypophosphatemic rickets -MONDO:0008662 MONDO:equivalentTo Orphanet:3086 autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant vitreoretinochoroidopathy -MONDO:0008663 MONDO:equivalentTo Orphanet:91496 snowflake vitreoretinal degeneration Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label snowflake vitreoretinal degeneration -MONDO:0008665 MONDO:equivalentTo Orphanet:2997 ptosis-vocal cord paralysis syndrome Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-vocal cord paralysis syndrome -MONDO:0008667 MONDO:equivalentTo Orphanet:892 von Hippel-Lindau disease Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von hippel-lindau disease -MONDO:0008670 MONDO:equivalentTo Orphanet:894 Waardenburg syndrome type 1 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 1 -MONDO:0008673 MONDO:equivalentTo Orphanet:952 acrofacial dysostosis, Weyers type Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, weyers type -MONDO:0008675 MONDO:equivalentTo Orphanet:2053 Freeman-Sheldon syndrome Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label freeman-sheldon syndrome -MONDO:0008678 MONDO:equivalentTo Orphanet:904 Williams syndrome Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams syndrome -MONDO:0008681 MONDO:equivalentTo Orphanet:893 WAGR syndrome WAGR syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wagr syndrome -MONDO:0008682 MONDO:equivalentTo Orphanet:220 Denys-Drash syndrome Denys-Drash syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label denys-drash syndrome -MONDO:0008684 MONDO:equivalentTo Orphanet:280 Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolf-hirschhorn syndrome -MONDO:0008688 MONDO:equivalentTo Orphanet:3466 WT limb-blood syndrome WT limb-blood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wt limb-blood syndrome -MONDO:0008692 MONDO:equivalentTo Orphanet:14 abetalipoproteinemia Abetalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetalipoproteinemia -MONDO:0008693 MONDO:equivalentTo Orphanet:920 ablepharon macrostomia syndrome Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ablepharon macrostomia syndrome -MONDO:0008694 MONDO:equivalentTo Orphanet:2985 pseudoprogeria syndrome Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoprogeria syndrome -MONDO:0008696 MONDO:equivalentTo Orphanet:90301 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome -MONDO:0008704 MONDO:equivalentTo Orphanet:935 short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short-limb skeletal dysplasia with severe combined immunodeficiency -MONDO:0008705 MONDO:equivalentTo Orphanet:35121 lysosomal acid phosphatase deficiency Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid phosphatase deficiency -MONDO:0008707 MONDO:equivalentTo Orphanet:958 acro-renal-mandibular syndrome Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acro-renal-mandibular syndrome -MONDO:0008708 MONDO:equivalentTo Orphanet:36 acrocallosal syndrome Acrocallosal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocallosal syndrome -MONDO:0008709 MONDO:equivalentTo Orphanet:221054 acrocephalopolydactyly Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocephalopolydactyly -MONDO:0008711 MONDO:equivalentTo Orphanet:65798 Goodman syndrome Goodman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goodman syndrome -MONDO:0008712 MONDO:equivalentTo Orphanet:949 acrocraniofacial dysostosis Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocraniofacial dysostosis -MONDO:0008713 MONDO:equivalentTo Orphanet:37 acrodermatitis enteropathica Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis enteropathica -MONDO:0008715 MONDO:equivalentTo Orphanet:1784 acrofrontofacionasal dysostosis Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofrontofacionasal dysostosis -MONDO:0008716 MONDO:equivalentTo Orphanet:2500 acrogeria Acrogeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrogeria -MONDO:0008718 MONDO:equivalentTo Orphanet:83467 Morvan syndrome Morvan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morvan syndrome -MONDO:0008721 MONDO:equivalentTo Orphanet:42 medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medium chain acyl-coa dehydrogenase deficiency -MONDO:0008722 MONDO:equivalentTo Orphanet:26792 short chain acyl-CoA dehydrogenase deficiency Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short chain acyl-coa dehydrogenase deficiency -MONDO:0008723 MONDO:equivalentTo Orphanet:26793 very long chain acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label very long chain acyl-coa dehydrogenase deficiency -MONDO:0008724 MONDO:equivalentTo Orphanet:2952 adducted thumbs-arthrogryposis syndrome, Christian type Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adducted thumbs-arthrogryposis syndrome, christian type -MONDO:0008725 MONDO:equivalentTo Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lipoid adrenal hyperplasia due to star deficency -MONDO:0008727 MONDO:equivalentTo Orphanet:90791 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency -MONDO:0008728 MONDO:equivalentTo Orphanet:90794 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency -MONDO:0008729 MONDO:equivalentTo Orphanet:90795 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency -MONDO:0008730 MONDO:equivalentTo Orphanet:90793 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency -MONDO:0008731 MONDO:equivalentTo Orphanet:95700 familial adrenal hypoplasia with absent pituitary luteinizing hormone Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adrenal hypoplasia with absent pituitary luteinizing hormone -MONDO:0008733 MONDO:equivalentTo Orphanet:361 familial glucocorticoid deficiency Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial glucocorticoid deficiency -MONDO:0008741 MONDO:equivalentTo Orphanet:991 PAGOD syndrome PAGOD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pagod syndrome -MONDO:0008742 MONDO:equivalentTo Orphanet:486 autosomal dominant severe congenital neutropenia Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia -MONDO:0008743 MONDO:equivalentTo Orphanet:3199 Stimmler syndrome Stimmler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stimmler syndrome -MONDO:0008744 MONDO:equivalentTo Orphanet:2007 alar cartilages hypoplasia-coloboma-telecanthus syndrome Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alar cartilages hypoplasia-coloboma-telecanthus syndrome -MONDO:0008745 MONDO:equivalentTo Orphanet:79431 oculocutaneous albinism type 1A Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a -MONDO:0008746 MONDO:equivalentTo Orphanet:79432 oculocutaneous albinism type 2 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 2 -MONDO:0008747 MONDO:equivalentTo Orphanet:79433 oculocutaneous albinism type 3 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 3 -MONDO:0008749 MONDO:equivalentTo Orphanet:94090 pseudohypoparathyroidism type 2 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 2 -MONDO:0008750 MONDO:equivalentTo Orphanet:2513 microcephaly-albinism-digital anomalies syndrome Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-albinism-digital anomalies syndrome -MONDO:0008752 MONDO:equivalentTo Orphanet:58 Alexander disease Alexander disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease -MONDO:0008753 MONDO:equivalentTo Orphanet:56 alkaptonuria Alkaptonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alkaptonuria -MONDO:0008755 MONDO:equivalentTo Orphanet:2574 Moynahan syndrome Moynahan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moynahan syndrome -MONDO:0008760 MONDO:equivalentTo Orphanet:134 beta-ketothiolase deficiency Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-ketothiolase deficiency -MONDO:0008762 MONDO:equivalentTo Orphanet:88919 autosomal recessive Alport syndrome Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive alport syndrome -MONDO:0008766 MONDO:equivalentTo Orphanet:1021 amaurosis-hypertrichosis syndrome Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis-hypertrichosis syndrome -MONDO:0008774 MONDO:equivalentTo Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-aminoadipic 2-oxoadipic aciduria -MONDO:0008777 MONDO:equivalentTo Orphanet:98957 gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gelatinous drop-like corneal dystrophy -MONDO:0008783 MONDO:equivalentTo Orphanet:31150 Tangier disease Tangier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tangier disease -MONDO:0008787 MONDO:equivalentTo Orphanet:83642 microcytic anemia with liver iron overload Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcytic anemia with liver iron overload -MONDO:0008788 MONDO:equivalentTo Orphanet:209981 IRIDA syndrome IRIDA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irida syndrome -MONDO:0008792 MONDO:equivalentTo Orphanet:199279 familial angiolipomatosis Familial angiolipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial angiolipomatosis -MONDO:0008795 MONDO:equivalentTo Orphanet:1065 aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-cerebellar ataxia-intellectual disability syndrome -MONDO:0008796 MONDO:equivalentTo Orphanet:1064 aniridia-renal agenesis-psychomotor retardation syndrome Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-renal agenesis-psychomotor retardation syndrome -MONDO:0008797 MONDO:equivalentTo Orphanet:99797 anodontia Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia -MONDO:0008799 MONDO:equivalentTo Orphanet:77298 anophthalmia/microphthalmia-esophageal atresia syndrome Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia/microphthalmia-esophageal atresia syndrome -MONDO:0008800 MONDO:equivalentTo Orphanet:1106 microphthalmia with limb anomalies Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia with limb anomalies -MONDO:0008803 MONDO:equivalentTo Orphanet:83 Antley-Bixler syndrome Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome -MONDO:0008806 MONDO:equivalentTo Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome -MONDO:0008808 MONDO:equivalentTo Orphanet:1116 aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis congenita-intestinal lymphangiectasia syndrome -MONDO:0008810 MONDO:equivalentTo Orphanet:309020 familial apolipoprotein C-II deficiency Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial apolipoprotein c-ii deficiency -MONDO:0008812 MONDO:equivalentTo Orphanet:1133 AREDYLD syndrome AREDYLD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aredyld syndrome -MONDO:0008813 MONDO:equivalentTo Orphanet:2356 arachnoid cyst Arachnoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnoid cyst -MONDO:0008815 MONDO:equivalentTo Orphanet:23 argininosuccinic aciduria Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argininosuccinic aciduria -MONDO:0008818 MONDO:equivalentTo Orphanet:3342 arterial tortuosity syndrome Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial tortuosity syndrome -MONDO:0008824 MONDO:equivalentTo Orphanet:994 fetal akinesia deformation sequence Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence -MONDO:0008825 MONDO:equivalentTo Orphanet:1150 arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita-whistling face syndrome -MONDO:0008826 MONDO:equivalentTo Orphanet:1485 arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-hyperkeratosis syndrome, lethal form -MONDO:0008827 MONDO:equivalentTo Orphanet:1159 progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive pseudorheumatoid arthropathy of childhood -MONDO:0008829 MONDO:equivalentTo Orphanet:1160 chylous ascites Chylous ascites semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chylous ascites -MONDO:0008830 MONDO:equivalentTo Orphanet:93 aspartylglucosaminuria Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspartylglucosaminuria -MONDO:0008843 MONDO:equivalentTo Orphanet:1192 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome -MONDO:0008847 MONDO:equivalentTo Orphanet:86819 atrichia with papular lesions Atrichia with papular lesions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrichia with papular lesions -MONDO:0008849 MONDO:equivalentTo Orphanet:79100 atrophoderma vermiculata Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophoderma vermiculata -MONDO:0008850 MONDO:equivalentTo Orphanet:1488 Cooper-Jabs syndrome Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cooper-jabs syndrome -MONDO:0008853 MONDO:equivalentTo Orphanet:1231 Barber-Say syndrome Barber-Say syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label barber-say syndrome -MONDO:0008857 MONDO:equivalentTo Orphanet:1237 Beemer-Ertbruggen syndrome Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beemer-ertbruggen syndrome -MONDO:0008863 MONDO:equivalentTo Orphanet:2882 sitosterolemia Sitosterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sitosterolemia -MONDO:0008864 MONDO:equivalentTo Orphanet:141333 Biemond syndrome type 2 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biemond syndrome type 2 -MONDO:0008872 MONDO:equivalentTo Orphanet:2637 microcephalic osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic primordial dwarfism type ii -MONDO:0008874 MONDO:equivalentTo Orphanet:1227 Bangstad syndrome Bangstad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bangstad syndrome -MONDO:0008875 MONDO:equivalentTo Orphanet:2057 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome -MONDO:0008876 MONDO:equivalentTo Orphanet:125 Bloom syndrome Bloom syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bloom syndrome -MONDO:0008877 MONDO:equivalentTo Orphanet:94086 blue diaper syndrome Blue diaper syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blue diaper syndrome -MONDO:0008878 MONDO:equivalentTo Orphanet:1842 bone dysplasia, lethal Holmgren type Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone dysplasia, lethal holmgren type -MONDO:0008879 MONDO:equivalentTo Orphanet:1270 Bowen-Conradi syndrome Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bowen-conradi syndrome -MONDO:0008881 MONDO:equivalentTo Orphanet:1801 kyphomelic dysplasia Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphomelic dysplasia -MONDO:0008884 MONDO:equivalentTo Orphanet:2713 oculoosteocutaneous syndrome Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoosteocutaneous syndrome -MONDO:0008888 MONDO:equivalentTo Orphanet:411501 Williams-Campbell syndrome Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams-campbell syndrome -MONDO:0008891 MONDO:equivalentTo Orphanet:97229 riboflavin transporter deficiency Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label riboflavin transporter deficiency -MONDO:0008892 MONDO:equivalentTo Orphanet:79306 progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 1 -MONDO:0008893 MONDO:equivalentTo Orphanet:1308 C syndrome C syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c syndrome -MONDO:0008894 MONDO:equivalentTo Orphanet:1375 cataract-hypertrichosis-intellectual disability syndrome Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-hypertrichosis-intellectual disability syndrome -MONDO:0008895 MONDO:equivalentTo Orphanet:289601 hereditary arterial and articular multiple calcification syndrome Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary arterial and articular multiple calcification syndrome -MONDO:0008896 MONDO:equivalentTo Orphanet:1318 campomelia, Cumming type Campomelia, Cumming type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label campomelia, cumming type -MONDO:0008898 MONDO:equivalentTo Orphanet:1327 camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 1 -MONDO:0008899 MONDO:equivalentTo Orphanet:1326 camptodactyly syndrome, Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 2 -MONDO:0008901 MONDO:equivalentTo Orphanet:3292 Tel Hashomer camptodactyly syndrome Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tel hashomer camptodactyly syndrome -MONDO:0008905 MONDO:equivalentTo Orphanet:457088 predisposition to invasive fungal disease due to CARD9 deficiency Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label predisposition to invasive fungal disease due to card9 deficiency -MONDO:0008915 MONDO:equivalentTo Orphanet:2229 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -MONDO:0008917 MONDO:equivalentTo Orphanet:1354 heart defects-limb shortening syndrome Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart defects-limb shortening syndrome -MONDO:0008918 MONDO:equivalentTo Orphanet:159 carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine-acylcarnitine translocase deficiency -MONDO:0008923 MONDO:equivalentTo Orphanet:1366 autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive palmoplantar keratoderma and congenital alopecia -MONDO:0008926 MONDO:equivalentTo Orphanet:1466 COFS syndrome COFS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cofs syndrome -MONDO:0008927 MONDO:equivalentTo Orphanet:435930 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -MONDO:0008928 MONDO:equivalentTo Orphanet:1368 cataract-ataxia-deafness syndrome Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-ataxia-deafness syndrome -MONDO:0008934 MONDO:equivalentTo Orphanet:1174 cerebellar ataxia-ectodermal dysplasia syndrome Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-ectodermal dysplasia syndrome -MONDO:0008935 MONDO:equivalentTo Orphanet:1173 cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-hypogonadism syndrome -MONDO:0008938 MONDO:equivalentTo Orphanet:1177 early-onset cerebellar ataxia with retained tendon reflexes Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset cerebellar ataxia with retained tendon reflexes -MONDO:0008941 MONDO:equivalentTo Orphanet:2031 hepatic fibrosis-renal cysts-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic fibrosis-renal cysts-intellectual disability syndrome -MONDO:0008947 MONDO:equivalentTo Orphanet:1980 bilateral striopallidodentate calcinosis Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral striopallidodentate calcinosis -MONDO:0008948 MONDO:equivalentTo Orphanet:909 cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrotendinous xanthomatosis -MONDO:0008959 MONDO:equivalentTo Orphanet:1401 CHAND syndrome CHAND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chand syndrome -MONDO:0008961 MONDO:equivalentTo Orphanet:99948 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4a -MONDO:0008962 MONDO:equivalentTo Orphanet:79476 Griscelli syndrome type 1 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 1 -MONDO:0008965 MONDO:equivalentTo Orphanet:138 CHARGE syndrome CHARGE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charge syndrome -MONDO:0008972 MONDO:equivalentTo Orphanet:309789 rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 1 -MONDO:0008973 MONDO:equivalentTo Orphanet:79347 chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata, toriello type -MONDO:0008974 MONDO:equivalentTo Orphanet:1426 Greenberg dysplasia Greenberg dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label greenberg dysplasia -MONDO:0008975 MONDO:equivalentTo Orphanet:1427 otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otospondylomegaepiphyseal dysplasia -MONDO:0008977 MONDO:equivalentTo Orphanet:55880 chondrosarcoma Chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrosarcoma -MONDO:0008978 MONDO:equivalentTo Orphanet:178 chordoma Chordoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chordoma -MONDO:0008980 MONDO:equivalentTo Orphanet:1180 ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-hypogonadism-choroidal dystrophy syndrome -MONDO:0008981 MONDO:equivalentTo Orphanet:1313 infantile choroidocerebral calcification syndrome Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile choroidocerebral calcification syndrome -MONDO:0008982 MONDO:equivalentTo Orphanet:75377 central areolar choroidal dystrophy Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central areolar choroidal dystrophy -MONDO:0008988 MONDO:equivalentTo Orphanet:247525 citrullinemia type I Citrullinemia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia type i -MONDO:0008991 MONDO:equivalentTo Orphanet:3429 Verloove Vanhorick-Brubakk syndrome Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verloove vanhorick-brubakk syndrome -MONDO:0008992 MONDO:equivalentTo Orphanet:2319 Juberg-Hayward syndrome Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juberg-hayward syndrome -MONDO:0008993 MONDO:equivalentTo Orphanet:2010 cleft palate-stapes fixation-oligodontia syndrome Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-stapes fixation-oligodontia syndrome -MONDO:0008995 MONDO:equivalentTo Orphanet:3472 Yunis-Varon syndrome Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yunis-varon syndrome -MONDO:0008998 MONDO:equivalentTo Orphanet:90324 Cockayne syndrome type 3 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 3 -MONDO:0008999 MONDO:equivalentTo Orphanet:193 Cohen syndrome Cohen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cohen syndrome -MONDO:0009000 MONDO:equivalentTo Orphanet:79147 familial reactive perforating collagenosis Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial reactive perforating collagenosis -MONDO:0009001 MONDO:equivalentTo Orphanet:91494 macular coloboma-cleft palate-hallux valgus syndrome Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular coloboma-cleft palate-hallux valgus syndrome -MONDO:0009007 MONDO:equivalentTo Orphanet:1873 Jalili syndrome Jalili syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jalili syndrome -MONDO:0009009 MONDO:equivalentTo Orphanet:722 hypoplasminogenemia Hypoplasminogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplasminogenemia -MONDO:0009010 MONDO:equivalentTo Orphanet:2299 aortic arch interruption Aortic arch interruption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch interruption -MONDO:0009012 MONDO:equivalentTo Orphanet:2215 multiple pterygium-malignant hyperthermia syndrome Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple pterygium-malignant hyperthermia syndrome -MONDO:0009015 MONDO:equivalentTo Orphanet:1490 corneal dystrophy-perceptive deafness syndrome Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal dystrophy-perceptive deafness syndrome -MONDO:0009018 MONDO:equivalentTo Orphanet:98972 central cloudy dystrophy of François Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central cloudy dystrophy of françois -MONDO:0009020 MONDO:equivalentTo Orphanet:98969 macular corneal dystrophy Macular corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular corneal dystrophy -MONDO:0009021 MONDO:equivalentTo Orphanet:3338 Toriello-Carey syndrome Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toriello-carey syndrome -MONDO:0009024 MONDO:equivalentTo Orphanet:1389 cortical blindness-intellectual disability-polydactyly syndrome Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical blindness-intellectual disability-polydactyly syndrome -MONDO:0009025 MONDO:equivalentTo Orphanet:320 apparent mineralocorticoid excess Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apparent mineralocorticoid excess -MONDO:0009026 MONDO:equivalentTo Orphanet:3071 Costello syndrome Costello syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label costello syndrome -MONDO:0009028 MONDO:equivalentTo Orphanet:1512 Crane-Heise syndrome Crane-Heise syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crane-heise syndrome -MONDO:0009031 MONDO:equivalentTo Orphanet:1513 craniodiaphyseal dysplasia Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniodiaphyseal dysplasia -MONDO:0009032 MONDO:equivalentTo Orphanet:1515 cranioectodermal dysplasia Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia -MONDO:0009033 MONDO:equivalentTo Orphanet:1777 temtamy syndrome Temtamy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temtamy syndrome -MONDO:0009036 MONDO:equivalentTo Orphanet:2872 cardiocranial syndrome, Pfeiffer type Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiocranial syndrome, pfeiffer type -MONDO:0009039 MONDO:equivalentTo Orphanet:1225 Baller-Gerold syndrome Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baller-gerold syndrome -MONDO:0009042 MONDO:equivalentTo Orphanet:1528 craniotelencephalic dysplasia Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniotelencephalic dysplasia -MONDO:0009044 MONDO:equivalentTo Orphanet:205 Crigler-Najjar syndrome Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome -MONDO:0009045 MONDO:equivalentTo Orphanet:1380 cataract-nephropathy-encephalopathy syndrome Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-nephropathy-encephalopathy syndrome -MONDO:0009046 MONDO:equivalentTo Orphanet:2052 Fraser syndrome Fraser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraser syndrome -MONDO:0009051 MONDO:equivalentTo Orphanet:2881 cutaneous photosensitivity-lethal colitis syndrome Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous photosensitivity-lethal colitis syndrome -MONDO:0009053 MONDO:equivalentTo Orphanet:35664 ALDH18A1-related de Barsy syndrome ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aldh18a1-related de barsy syndrome -MONDO:0009054 MONDO:equivalentTo Orphanet:357074 autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2, classic type -MONDO:0009055 MONDO:equivalentTo Orphanet:1556 cutis marmorata telangiectatica congenita Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis marmorata telangiectatica congenita -MONDO:0009058 MONDO:equivalentTo Orphanet:212 cystathioninuria Cystathioninuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystathioninuria -MONDO:0009061 MONDO:equivalentTo Orphanet:586 cystic fibrosis Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis -MONDO:0009062 MONDO:equivalentTo Orphanet:2575 cystic fibrosis-gastritis-megaloblastic anemia syndrome Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis-gastritis-megaloblastic anemia syndrome -MONDO:0009063 MONDO:equivalentTo Orphanet:443988 ventriculomegaly-cystic kidney disease Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventriculomegaly-cystic kidney disease -MONDO:0009064 MONDO:equivalentTo Orphanet:411641 ocular cystinosis Ocular cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cystinosis -MONDO:0009066 MONDO:equivalentTo Orphanet:411634 juvenile nephropathic cystinosis Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile nephropathic cystinosis -MONDO:0009067 MONDO:equivalentTo Orphanet:214 cystinuria Cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria -MONDO:0009069 MONDO:equivalentTo Orphanet:70472 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactic acidosis, saguenay-lac-saint-jean type -MONDO:0009070 MONDO:equivalentTo Orphanet:941 D-glyceric aciduria D-glyceric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d-glyceric aciduria -MONDO:0009071 MONDO:equivalentTo Orphanet:94088 hereditary renal hypouricemia Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary renal hypouricemia -MONDO:0009074 MONDO:equivalentTo Orphanet:1970 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome -MONDO:0009075 MONDO:equivalentTo Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dandy-walker malformation-postaxial polydactyly syndrome -MONDO:0009079 MONDO:equivalentTo Orphanet:79500 DOORS syndrome DOORS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label doors syndrome -MONDO:0009082 MONDO:equivalentTo Orphanet:363396 high myopia-sensorineural deafness syndrome High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high myopia-sensorineural deafness syndrome -MONDO:0009083 MONDO:equivalentTo Orphanet:3216 conductive deafness-malformed external ear syndrome Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conductive deafness-malformed external ear syndrome -MONDO:0009084 MONDO:equivalentTo Orphanet:3236 conductive deafness-ptosis-skeletal anomalies syndrome Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conductive deafness-ptosis-skeletal anomalies syndrome -MONDO:0009085 MONDO:equivalentTo Orphanet:3239 deafness-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-vitiligo-achalasia syndrome -MONDO:0009086 MONDO:equivalentTo Orphanet:3217 deafness-small bowel diverticulosis-neuropathy syndrome Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-small bowel diverticulosis-neuropathy syndrome -MONDO:0009089 MONDO:equivalentTo Orphanet:3230 deafness-oligodontia syndrome Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-oligodontia syndrome -MONDO:0009093 MONDO:equivalentTo Orphanet:1659 dermatoleukodystrophy Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatoleukodystrophy -MONDO:0009094 MONDO:equivalentTo Orphanet:79149 dermochondrocorneal dystrophy Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermochondrocorneal dystrophy -MONDO:0009095 MONDO:equivalentTo Orphanet:1657 dermatoosteolysis, Kirghizian type Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatoosteolysis, kirghizian type -MONDO:0009104 MONDO:equivalentTo Orphanet:2143 Donnai-Barrow syndrome Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label donnai-barrow syndrome -MONDO:0009107 MONDO:equivalentTo Orphanet:628 diastrophic dysplasia Diastrophic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia -MONDO:0009109 MONDO:equivalentTo Orphanet:470 lysinuric protein intolerance Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysinuric protein intolerance -MONDO:0009110 MONDO:equivalentTo Orphanet:2195 dicarboxylic aminoaciduria Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicarboxylic aminoaciduria -MONDO:0009111 MONDO:equivalentTo Orphanet:38874 dihydropyrimidinuria Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropyrimidinuria -MONDO:0009112 MONDO:equivalentTo Orphanet:309796 rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 2 -MONDO:0009113 MONDO:equivalentTo Orphanet:714 hemolytic anemia due to diphosphoglycerate mutase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to diphosphoglycerate mutase deficiency -MONDO:0009114 MONDO:equivalentTo Orphanet:35122 congenital sucrase-isomaltase deficiency Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sucrase-isomaltase deficiency -MONDO:0009115 MONDO:equivalentTo Orphanet:53690 congenital lactase deficiency Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency -MONDO:0009121 MONDO:equivalentTo Orphanet:3439 von Voss-Cherstvoy syndrome Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von voss-cherstvoy syndrome -MONDO:0009124 MONDO:equivalentTo Orphanet:235 Dubowitz syndrome Dubowitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dubowitz syndrome -MONDO:0009126 MONDO:equivalentTo Orphanet:1203 duodenal atresia Duodenal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal atresia -MONDO:0009130 MONDO:equivalentTo Orphanet:239 Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyggve-melchior-clausen disease -MONDO:0009138 MONDO:equivalentTo Orphanet:1782 dysosteosclerosis Dysosteosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysosteosclerosis -MONDO:0009139 MONDO:equivalentTo Orphanet:156731 dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyssegmental dysplasia, rolland-desbuquois type -MONDO:0009146 MONDO:equivalentTo Orphanet:1883 ectodermal dysplasia-sensorineural deafness syndrome Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-sensorineural deafness syndrome -MONDO:0009149 MONDO:equivalentTo Orphanet:1812 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome -MONDO:0009150 MONDO:equivalentTo Orphanet:1882 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome -MONDO:0009151 MONDO:equivalentTo Orphanet:3253 cleft lip/palate-ectodermal dysplasia syndrome Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-ectodermal dysplasia syndrome -MONDO:0009155 MONDO:equivalentTo Orphanet:1897 EEM syndrome EEM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eem syndrome -MONDO:0009156 MONDO:equivalentTo Orphanet:1892 ectrodactyly-polydactyly syndrome Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectrodactyly-polydactyly syndrome -MONDO:0009166 MONDO:equivalentTo Orphanet:166063 pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 4 -MONDO:0009167 MONDO:equivalentTo Orphanet:1261 Bonnemann-Meinecke-Reich syndrome Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bonnemann-meinecke-reich syndrome -MONDO:0009169 MONDO:equivalentTo Orphanet:2022 endocardial fibroelastosis Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis -MONDO:0009173 MONDO:equivalentTo Orphanet:168601 congenital enteropathy due to enteropeptidase deficiency Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enteropathy due to enteropeptidase deficiency -MONDO:0009175 MONDO:equivalentTo Orphanet:3165 eosinophilic fasciitis Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic fasciitis -MONDO:0009176 MONDO:equivalentTo Orphanet:302 epidermodysplasia verruciformis Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis -MONDO:0009177 MONDO:equivalentTo Orphanet:231556 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome -MONDO:0009183 MONDO:equivalentTo Orphanet:79403 junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa with pyloric atresia -MONDO:0009185 MONDO:equivalentTo Orphanet:1946 amelocerebrohypohidrotic syndrome Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelocerebrohypohidrotic syndrome -MONDO:0009187 MONDO:equivalentTo Orphanet:1459 celiac disease-epilepsy-cerebral calcification syndrome Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label celiac disease-epilepsy-cerebral calcification syndrome -MONDO:0009188 MONDO:equivalentTo Orphanet:1951 epilepsy-telangiectasia syndrome Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy-telangiectasia syndrome -MONDO:0009189 MONDO:equivalentTo Orphanet:93307 multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 4 -MONDO:0009191 MONDO:equivalentTo Orphanet:1824 Lowry-Wood syndrome Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowry-wood syndrome -MONDO:0009192 MONDO:equivalentTo Orphanet:1667 Wolcott-Rallison syndrome Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolcott-rallison syndrome -MONDO:0009196 MONDO:equivalentTo Orphanet:999 ermine phenotype Ermine phenotype semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ermine phenotype -MONDO:0009197 MONDO:equivalentTo Orphanet:98871 transient erythroblastopenia of childhood Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient erythroblastopenia of childhood -MONDO:0009198 MONDO:equivalentTo Orphanet:1954 congenital lethal erythroderma Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lethal erythroderma -MONDO:0009200 MONDO:equivalentTo Orphanet:3172 eyebrow duplication-syndactyly syndrome Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eyebrow duplication-syndactyly syndrome -MONDO:0009202 MONDO:equivalentTo Orphanet:1780 Thakker-Donnai syndrome Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thakker-donnai syndrome -MONDO:0009203 MONDO:equivalentTo Orphanet:1807 focal facial dermal dysplasia type III Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type iii -MONDO:0009204 MONDO:equivalentTo Orphanet:1972 lethal faciocardiomelic dysplasia Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal faciocardiomelic dysplasia -MONDO:0009205 MONDO:equivalentTo Orphanet:1973 faciocardiorenal syndrome Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label faciocardiorenal syndrome -MONDO:0009209 MONDO:equivalentTo Orphanet:1974 autosomal recessive faciodigitogenital syndrome Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive faciodigitogenital syndrome -MONDO:0009210 MONDO:equivalentTo Orphanet:326 congenital factor V deficiency Congenital factor V deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor v deficiency -MONDO:0009211 MONDO:equivalentTo Orphanet:327 congenital factor VII deficiency Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor vii deficiency -MONDO:0009212 MONDO:equivalentTo Orphanet:328 congenital factor X deficiency Congenital factor X deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor x deficiency -MONDO:0009221 MONDO:equivalentTo Orphanet:2019 femur-fibula-ulna complex Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femur-fibula-ulna complex -MONDO:0009222 MONDO:equivalentTo Orphanet:1986 Gollop-Wolfgang complex Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gollop-wolfgang complex -MONDO:0009224 MONDO:equivalentTo Orphanet:1910 fetal iodine syndrome Fetal iodine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal iodine syndrome -MONDO:0009228 MONDO:equivalentTo Orphanet:2025 gingival fibromatosis-facial dysmorphism syndrome Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-facial dysmorphism syndrome -MONDO:0009229 MONDO:equivalentTo Orphanet:498474 hyaline fibromatosis syndrome Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyaline fibromatosis syndrome -MONDO:0009232 MONDO:equivalentTo Orphanet:2854 Fuhrmann syndrome Fuhrmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fuhrmann syndrome -MONDO:0009233 MONDO:equivalentTo Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibulo-ulnar hypoplasia-renal anomalies syndrome -MONDO:0009234 MONDO:equivalentTo Orphanet:483 congenital high-molecular-weight kininogen deficiency Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital high-molecular-weight kininogen deficiency -MONDO:0009235 MONDO:equivalentTo Orphanet:363989 familial benign flecked retina Familial benign flecked retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial benign flecked retina -MONDO:0009236 MONDO:equivalentTo Orphanet:99179 Kandori fleck retina Kandori fleck retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kandori fleck retina -MONDO:0009238 MONDO:equivalentTo Orphanet:90045 hereditary folate malabsorption Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption -MONDO:0009240 MONDO:equivalentTo Orphanet:51208 formiminoglutamic aciduria Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label formiminoglutamic aciduria -MONDO:0009241 MONDO:equivalentTo Orphanet:3219 fountain syndrome Fountain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fountain syndrome -MONDO:0009242 MONDO:equivalentTo Orphanet:90354 brittle cornea syndrome Brittle cornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brittle cornea syndrome -MONDO:0009247 MONDO:equivalentTo Orphanet:1791 frontofacionasal dysplasia Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontofacionasal dysplasia -MONDO:0009249 MONDO:equivalentTo Orphanet:469 hereditary fructose intolerance Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary fructose intolerance -MONDO:0009251 MONDO:equivalentTo Orphanet:348 fructose-1,6-bisphosphatase deficiency Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fructose-1,6-bisphosphatase deficiency -MONDO:0009252 MONDO:equivalentTo Orphanet:2056 essential fructosuria Essential fructosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential fructosuria -MONDO:0009253 MONDO:equivalentTo Orphanet:2059 Fryns syndrome Fryns syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fryns syndrome -MONDO:0009254 MONDO:equivalentTo Orphanet:349 fucosidosis Fucosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fucosidosis -MONDO:0009255 MONDO:equivalentTo Orphanet:79237 galactokinase deficiency Galactokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactokinase deficiency -MONDO:0009257 MONDO:equivalentTo Orphanet:79238 galactose epimerase deficiency Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactose epimerase deficiency -MONDO:0009258 MONDO:equivalentTo Orphanet:79239 classic galactosemia Classic galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic galactosemia -MONDO:0009260 MONDO:equivalentTo Orphanet:79255 GM1 gangliosidosis type 1 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 1 -MONDO:0009261 MONDO:equivalentTo Orphanet:79256 GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 2 -MONDO:0009262 MONDO:equivalentTo Orphanet:79257 GM1 gangliosidosis type 3 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 3 -MONDO:0009263 MONDO:equivalentTo Orphanet:2067 GAPO syndrome GAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gapo syndrome -MONDO:0009264 MONDO:equivalentTo Orphanet:2368 gastroschisis Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis -MONDO:0009268 MONDO:equivalentTo Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome -MONDO:0009271 MONDO:equivalentTo Orphanet:2078 geroderma osteodysplastica Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geroderma osteodysplastica -MONDO:0009272 MONDO:equivalentTo Orphanet:2077 German syndrome German syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label german syndrome -MONDO:0009274 MONDO:equivalentTo Orphanet:1802 ghosal hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ghosal hematodiaphyseal dysplasia -MONDO:0009275 MONDO:equivalentTo Orphanet:446 neonatal hemochromatosis Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal hemochromatosis -MONDO:0009276 MONDO:equivalentTo Orphanet:274 Bernard-Soulier syndrome Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bernard-soulier syndrome -MONDO:0009281 MONDO:equivalentTo Orphanet:25 glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaryl-coa dehydrogenase deficiency -MONDO:0009282 MONDO:equivalentTo Orphanet:26791 multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency -MONDO:0009283 MONDO:equivalentTo Orphanet:35706 glutaric acidemia type 3 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaric acidemia type 3 -MONDO:0009284 MONDO:equivalentTo Orphanet:289849 glutathione synthetase deficiency without 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutathione synthetase deficiency without 5-oxoprolinuria -MONDO:0009285 MONDO:equivalentTo Orphanet:33573 gamma-glutamyl transpeptidase deficiency Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gamma-glutamyl transpeptidase deficiency -MONDO:0009287 MONDO:equivalentTo Orphanet:79258 glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glucose-6-phosphatase deficiency type ia -MONDO:0009292 MONDO:equivalentTo Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency -MONDO:0009297 MONDO:equivalentTo Orphanet:69076 familial renal glucosuria Familial renal glucosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial renal glucosuria -MONDO:0009302 MONDO:equivalentTo Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xy type gonadal dysgenesis-associated anomalies syndrome -MONDO:0009303 MONDO:equivalentTo Orphanet:375 anti-glomerular basement membrane disease Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-glomerular basement membrane disease -MONDO:0009312 MONDO:equivalentTo Orphanet:1979 lipodystrophy due to peptidic growth factors deficiency Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipodystrophy due to peptidic growth factors deficiency -MONDO:0009313 MONDO:equivalentTo Orphanet:2101 Grubben-de Cock-Borghgraef syndrome Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grubben-de cock-borghgraef syndrome -MONDO:0009315 MONDO:equivalentTo Orphanet:330 congenital factor XII deficiency Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xii deficiency -MONDO:0009318 MONDO:equivalentTo Orphanet:2108 Hallermann-Streiff syndrome Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hallermann-streiff syndrome -MONDO:0009319 MONDO:equivalentTo Orphanet:157850 pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pantothenate kinase-associated neurodegeneration -MONDO:0009320 MONDO:equivalentTo Orphanet:2107 Hall-Riggs syndrome Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hall-riggs syndrome -MONDO:0009321 MONDO:equivalentTo Orphanet:2110 hallux varus-preaxial polysyndactyly syndrome Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hallux varus-preaxial polysyndactyly syndrome -MONDO:0009324 MONDO:equivalentTo Orphanet:2116 Hartnup disease Hartnup disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hartnup disease -MONDO:0009326 MONDO:equivalentTo Orphanet:60041 congenital heart block Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block -MONDO:0009331 MONDO:equivalentTo Orphanet:2128 isolated hemihyperplasia Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hemihyperplasia -MONDO:0009338 MONDO:equivalentTo Orphanet:79124 hepatic veno-occlusive disease-immunodeficiency syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease-immunodeficiency syndrome -MONDO:0009340 MONDO:equivalentTo Orphanet:90031 non-spherocytic hemolytic anemia due to hexokinase deficiency Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-spherocytic hemolytic anemia due to hexokinase deficiency -MONDO:0009341 MONDO:equivalentTo Orphanet:2152 Mowat-Wilson syndrome Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome -MONDO:0009344 MONDO:equivalentTo Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-nail hypoplasia-dysmorphism syndrome -MONDO:0009345 MONDO:equivalentTo Orphanet:2157 histidinemia Histidinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histidinemia -MONDO:0009348 MONDO:equivalentTo Orphanet:391 classic Hodgkin lymphoma Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic hodgkin lymphoma -MONDO:0009352 MONDO:equivalentTo Orphanet:394 classic homocystinuria Classic homocystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic homocystinuria -MONDO:0009353 MONDO:equivalentTo Orphanet:395 homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homocystinuria due to methylene tetrahydrofolate reductase deficiency -MONDO:0009354 MONDO:equivalentTo Orphanet:2169 methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cble -MONDO:0009359 MONDO:equivalentTo Orphanet:500135 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome -MONDO:0009362 MONDO:equivalentTo Orphanet:3035 growth delay-hydrocephaly-lung hypoplasia syndrome Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay-hydrocephaly-lung hypoplasia syndrome -MONDO:0009363 MONDO:equivalentTo Orphanet:2181 hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephaly-tall stature-joint laxity syndrome -MONDO:0009367 MONDO:equivalentTo Orphanet:2473 McKusick-Kaufman syndrome McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mckusick-kaufman syndrome -MONDO:0009369 MONDO:equivalentTo Orphanet:363999 non-immune hydrops fetalis Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-immune hydrops fetalis -MONDO:0009370 MONDO:equivalentTo Orphanet:79314 L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l-2-hydroxyglutaric aciduria -MONDO:0009371 MONDO:equivalentTo Orphanet:939 3-hydroxyisobutyric aciduria 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxyisobutyric aciduria -MONDO:0009373 MONDO:equivalentTo Orphanet:79156 seizures-intellectual disability due to hydroxylysinuria syndrome Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seizures-intellectual disability due to hydroxylysinuria syndrome -MONDO:0009377 MONDO:equivalentTo Orphanet:927 hyperammonemia due to N-acetylglutamate synthase deficiency Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperammonemia due to n-acetylglutamate synthase deficiency -MONDO:0009378 MONDO:equivalentTo Orphanet:309147 hyper-beta-alaninemia Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-beta-alaninemia -MONDO:0009379 MONDO:equivalentTo Orphanet:3111 Rotor syndrome Rotor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rotor syndrome -MONDO:0009380 MONDO:equivalentTo Orphanet:234 Dubin-Johnson syndrome Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dubin-johnson syndrome -MONDO:0009383 MONDO:equivalentTo Orphanet:2312 transient familial neonatal hyperbilirubinemia Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient familial neonatal hyperbilirubinemia -MONDO:0009387 MONDO:equivalentTo Orphanet:309015 familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial lipoprotein lipase deficiency -MONDO:0009388 MONDO:equivalentTo Orphanet:2203 hyperlysinemia Hyperlysinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlysinemia -MONDO:0009394 MONDO:equivalentTo Orphanet:2801 juvenile Paget disease Juvenile Paget disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile paget disease -MONDO:0009395 MONDO:equivalentTo Orphanet:3416 hyperostosis corticalis generalisata Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperostosis corticalis generalisata -MONDO:0009397 MONDO:equivalentTo Orphanet:417 neonatal severe primary hyperparathyroidism Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal severe primary hyperparathyroidism -MONDO:0009400 MONDO:equivalentTo Orphanet:419 hyperprolinemia type 1 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolinemia type 1 -MONDO:0009401 MONDO:equivalentTo Orphanet:79101 hyperprolinemia type 2 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolinemia type 2 -MONDO:0009405 MONDO:equivalentTo Orphanet:2218 cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical hypertrichosis-peripheral neuropathy syndrome -MONDO:0009416 MONDO:equivalentTo Orphanet:293964 hypoinsulinemic hypoglycemia and body hemihypertrophy Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoinsulinemic hypoglycemia and body hemihypertrophy -MONDO:0009417 MONDO:equivalentTo Orphanet:2410 hypergonadotropic hypogonadism-cataract syndrome Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypergonadotropic hypogonadism-cataract syndrome -MONDO:0009419 MONDO:equivalentTo Orphanet:3464 Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label woodhouse-sakati syndrome -MONDO:0009420 MONDO:equivalentTo Orphanet:2232 primary hypergonadotropic hypogonadism-partial alopecia syndrome Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypergonadotropic hypogonadism-partial alopecia syndrome -MONDO:0009425 MONDO:equivalentTo Orphanet:1790 hypomandibular faciocranial dysostosis Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomandibular faciocranial dysostosis -MONDO:0009431 MONDO:equivalentTo Orphanet:157215 hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypophosphatemic rickets with hypercalciuria -MONDO:0009435 MONDO:equivalentTo Orphanet:2261 hypospadias-intellectual disability, Goldblatt type syndrome Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias-intellectual disability, goldblatt type syndrome -MONDO:0009437 MONDO:equivalentTo Orphanet:1226 Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bamforth-lazarus syndrome -MONDO:0009444 MONDO:equivalentTo Orphanet:2269 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome -MONDO:0009445 MONDO:equivalentTo Orphanet:2274 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome -MONDO:0009446 MONDO:equivalentTo Orphanet:2278 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-intellectual disability-dwarfism-renal impairment syndrome -MONDO:0009448 MONDO:equivalentTo Orphanet:42062 iminoglycinuria Iminoglycinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iminoglycinuria -MONDO:0009452 MONDO:equivalentTo Orphanet:1493 Vici syndrome Vici syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vici syndrome -MONDO:0009458 MONDO:equivalentTo Orphanet:1830 Schimke immuno-osseous dysplasia Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schimke immuno-osseous dysplasia -MONDO:0009465 MONDO:equivalentTo Orphanet:2300 multiple intestinal atresia Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple intestinal atresia -MONDO:0009469 MONDO:equivalentTo Orphanet:99960 benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis type 1 -MONDO:0009473 MONDO:equivalentTo Orphanet:2306 isotretinoin-like syndrome Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isotretinoin-like syndrome -MONDO:0009475 MONDO:equivalentTo Orphanet:33 isovaleric acidemia Isovaleric acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isovaleric acidemia -MONDO:0009477 MONDO:equivalentTo Orphanet:506307 Stromme syndrome Stromme syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stromme syndrome -MONDO:0009478 MONDO:equivalentTo Orphanet:217390 combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to dock8 deficiency -MONDO:0009479 MONDO:equivalentTo Orphanet:2315 Johanson-Blizzard syndrome Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label johanson-blizzard syndrome -MONDO:0009480 MONDO:equivalentTo Orphanet:2318 Joubert syndrome with oculorenal defect Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with oculorenal defect -MONDO:0009483 MONDO:equivalentTo Orphanet:2328 Kapur-Toriello syndrome Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kapur-toriello syndrome -MONDO:0009485 MONDO:equivalentTo Orphanet:2707 oculocerebrofacial syndrome, Kaufman type Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebrofacial syndrome, kaufman type -MONDO:0009486 MONDO:equivalentTo Orphanet:93324 autosomal recessive Kenny-Caffey syndrome Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive kenny-caffey syndrome -MONDO:0009489 MONDO:equivalentTo Orphanet:86923 hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary palmoplantar keratoderma, gamborg-nielsen type -MONDO:0009491 MONDO:equivalentTo Orphanet:2342 Haim-Munk syndrome Haim-Munk syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haim-munk syndrome -MONDO:0009493 MONDO:equivalentTo Orphanet:1399 Richards-Rundle syndrome Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richards-rundle syndrome -MONDO:0009495 MONDO:equivalentTo Orphanet:85202 Keutel syndrome Keutel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keutel syndrome -MONDO:0009498 MONDO:equivalentTo Orphanet:2347 lethal Kniest-like dysplasia Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal kniest-like dysplasia -MONDO:0009499 MONDO:equivalentTo Orphanet:487 Krabbe disease Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label krabbe disease -MONDO:0009501 MONDO:equivalentTo Orphanet:171690 metabolic myopathy due to lactate transporter defect Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic myopathy due to lactate transporter defect -MONDO:0009502 MONDO:equivalentTo Orphanet:79244 pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e2 deficiency -MONDO:0009503 MONDO:equivalentTo Orphanet:255182 pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009507 MONDO:equivalentTo Orphanet:1296 Lambert syndrome Lambert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lambert syndrome -MONDO:0009509 MONDO:equivalentTo Orphanet:98818 Landau-Kleffner syndrome Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label landau-kleffner syndrome -MONDO:0009511 MONDO:equivalentTo Orphanet:284139 Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen-like syndrome, b3gat3 type -MONDO:0009512 MONDO:equivalentTo Orphanet:2371 lethal Larsen-like syndrome Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal larsen-like syndrome -MONDO:0009513 MONDO:equivalentTo Orphanet:2407 laryngo-onycho-cutaneous syndrome Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngo-onycho-cutaneous syndrome -MONDO:0009514 MONDO:equivalentTo Orphanet:2377 Laurence-Moon syndrome Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laurence-moon syndrome -MONDO:0009516 MONDO:equivalentTo Orphanet:2310 absence deformity of leg-cataract syndrome Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence deformity of leg-cataract syndrome -MONDO:0009520 MONDO:equivalentTo Orphanet:20 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxy-3-methylglutaric aciduria -MONDO:0009522 MONDO:equivalentTo Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome -MONDO:0009523 MONDO:equivalentTo Orphanet:2390 Lichtenstein syndrome Lichtenstein syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichtenstein syndrome -MONDO:0009524 MONDO:equivalentTo Orphanet:1891 intellectual disability-spasticity-ectrodactyly syndrome Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-spasticity-ectrodactyly syndrome -MONDO:0009528 MONDO:equivalentTo Orphanet:71 chylomicron retention disease Chylomicron retention disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chylomicron retention disease -MONDO:0009529 MONDO:equivalentTo Orphanet:2394 pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e3 deficiency -MONDO:0009530 MONDO:equivalentTo Orphanet:530 lipoid proteinosis Lipoid proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoid proteinosis -MONDO:0009533 MONDO:equivalentTo Orphanet:1563 Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dahlberg-borer-newcomer syndrome -MONDO:0009537 MONDO:equivalentTo Orphanet:79128 lymphoid interstitial pneumonia Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid interstitial pneumonia -MONDO:0009543 MONDO:equivalentTo Orphanet:2083 prominent glabella-microcephaly-hypogenitalism syndrome Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prominent glabella-microcephaly-hypogenitalism syndrome -MONDO:0009547 MONDO:equivalentTo Orphanet:2432 macrosomia-microphthalmia-cleft palate syndrome Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrosomia-microphthalmia-cleft palate syndrome -MONDO:0009549 MONDO:equivalentTo Orphanet:364055 severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-childhood-onset retinal dystrophy -MONDO:0009552 MONDO:equivalentTo Orphanet:87503 mal de Meleda Mal de Meleda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mal de meleda -MONDO:0009556 MONDO:equivalentTo Orphanet:943 malonic aciduria Malonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malonic aciduria -MONDO:0009557 MONDO:equivalentTo Orphanet:90153 mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia with type a lipodystrophy -MONDO:0009560 MONDO:equivalentTo Orphanet:2717 oculotrichoanal syndrome Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculotrichoanal syndrome -MONDO:0009561 MONDO:equivalentTo Orphanet:61 alpha-mannosidosis Alpha-mannosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis -MONDO:0009562 MONDO:equivalentTo Orphanet:118 beta-mannosidosis Beta-mannosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-mannosidosis -MONDO:0009563 MONDO:equivalentTo Orphanet:511 maple syrup urine disease Maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maple syrup urine disease -MONDO:0009564 MONDO:equivalentTo Orphanet:2461 Marden-Walker syndrome Marden-Walker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marden-walker syndrome -MONDO:0009565 MONDO:equivalentTo Orphanet:2172 microcephaly-glomerulonephritis-marfanoid habitus syndrome Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-glomerulonephritis-marfanoid habitus syndrome -MONDO:0009566 MONDO:equivalentTo Orphanet:2463 marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfanoid habitus-autosomal recessive intellectual disability syndrome -MONDO:0009569 MONDO:equivalentTo Orphanet:2135 Hennekam-Beemer syndrome Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hennekam-beemer syndrome -MONDO:0009570 MONDO:equivalentTo Orphanet:2471 McDonough syndrome McDonough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mcdonough syndrome -MONDO:0009575 MONDO:equivalentTo Orphanet:49827 thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiamine-responsive megaloblastic anemia syndrome -MONDO:0009577 MONDO:equivalentTo Orphanet:2479 megalocornea-intellectual disability syndrome Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea-intellectual disability syndrome -MONDO:0009578 MONDO:equivalentTo Orphanet:2481 neurocutaneous melanocytosis Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurocutaneous melanocytosis -MONDO:0009579 MONDO:equivalentTo Orphanet:137834 Frank-Ter Haar syndrome Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frank-ter haar syndrome -MONDO:0009581 MONDO:equivalentTo Orphanet:3044 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome -MONDO:0009582 MONDO:equivalentTo Orphanet:2557 Mietens syndrome Mietens syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mietens syndrome -MONDO:0009584 MONDO:equivalentTo Orphanet:3079 intellectual disability, Buenos-Aires type Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability, buenos-aires type -MONDO:0009588 MONDO:equivalentTo Orphanet:2632 Langer mesomelic dysplasia Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langer mesomelic dysplasia -MONDO:0009589 MONDO:equivalentTo Orphanet:2631 mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dwarfism-cleft palate-camptodactyly syndrome -MONDO:0009591 MONDO:equivalentTo Orphanet:309263 metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, juvenile form -MONDO:0009592 MONDO:equivalentTo Orphanet:1240 metaphyseal acroscyphodysplasia Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal acroscyphodysplasia -MONDO:0009593 MONDO:equivalentTo Orphanet:93317 spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, sedaghatian type -MONDO:0009594 MONDO:equivalentTo Orphanet:166038 metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, kaitila type -MONDO:0009595 MONDO:equivalentTo Orphanet:175 cartilage-hair hypoplasia Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cartilage-hair hypoplasia -MONDO:0009597 MONDO:equivalentTo Orphanet:2501 metaphyseal chondrodysplasia, Spahr type Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, spahr type -MONDO:0009599 MONDO:equivalentTo Orphanet:2502 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysostosis-intellectual disability-conductive deafness syndrome -MONDO:0009609 MONDO:equivalentTo Orphanet:2170 methylcobalamin deficiency type cblG Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cblg -MONDO:0009610 MONDO:equivalentTo Orphanet:67046 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 1 -MONDO:0009611 MONDO:equivalentTo Orphanet:67048 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 4 -MONDO:0009615 MONDO:equivalentTo Orphanet:308425 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency -MONDO:0009616 MONDO:equivalentTo Orphanet:2643 microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism, toriello type -MONDO:0009618 MONDO:equivalentTo Orphanet:2515 microcephaly-cardiomyopathy syndrome Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cardiomyopathy syndrome -MONDO:0009619 MONDO:equivalentTo Orphanet:572768 microcephaly-micromelia syndrome Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-micromelia syndrome -MONDO:0009620 MONDO:equivalentTo Orphanet:3132 Say-Barber-Miller syndrome Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label say-barber-miller syndrome -MONDO:0009621 MONDO:equivalentTo Orphanet:2522 microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cervical spine fusion anomalies syndrome -MONDO:0009622 MONDO:equivalentTo Orphanet:313795 Jawad syndrome Jawad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jawad syndrome -MONDO:0009623 MONDO:equivalentTo Orphanet:647 Nijmegen breakage syndrome Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nijmegen breakage syndrome -MONDO:0009627 MONDO:equivalentTo Orphanet:2065 Galloway-Mowat syndrome Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galloway-mowat syndrome -MONDO:0009635 MONDO:equivalentTo Orphanet:2290 microvillus inclusion disease Microvillus inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvillus inclusion disease -MONDO:0009643 MONDO:equivalentTo Orphanet:308386 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type a -MONDO:0009644 MONDO:equivalentTo Orphanet:308393 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type b -MONDO:0009648 MONDO:equivalentTo Orphanet:2400 peripheral motor neuropathy-dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral motor neuropathy-dysautonomia syndrome -MONDO:0009650 MONDO:equivalentTo Orphanet:576 mucolipidosis type II Mucolipidosis type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis type ii -MONDO:0009653 MONDO:equivalentTo Orphanet:578 mucolipidosis type IV Mucolipidosis type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis type iv -MONDO:0009659 MONDO:equivalentTo Orphanet:309297 mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4a -MONDO:0009660 MONDO:equivalentTo Orphanet:309310 mucopolysaccharidosis type 4B Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4b -MONDO:0009661 MONDO:equivalentTo Orphanet:583 mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6 -MONDO:0009662 MONDO:equivalentTo Orphanet:584 mucopolysaccharidosis type 7 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 7 -MONDO:0009664 MONDO:equivalentTo Orphanet:2576 mulibrey nanism Mulibrey nanism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mulibrey nanism -MONDO:0009665 MONDO:equivalentTo Orphanet:79241 biotinidase deficiency Biotinidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biotinidase deficiency -MONDO:0009666 MONDO:equivalentTo Orphanet:79242 holocarboxylase synthetase deficiency Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holocarboxylase synthetase deficiency -MONDO:0009668 MONDO:equivalentTo Orphanet:33108 lethal multiple pterygium syndrome Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal multiple pterygium syndrome -MONDO:0009671 MONDO:equivalentTo Orphanet:3068 intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-myopathy-short stature-endocrine defect syndrome -MONDO:0009680 MONDO:equivalentTo Orphanet:1875 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy-infantile cataract-hypogonadism syndrome -MONDO:0009685 MONDO:equivalentTo Orphanet:45448 Miyoshi myopathy Miyoshi myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi myopathy -MONDO:0009688 MONDO:equivalentTo Orphanet:589 myasthenia gravis Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis -MONDO:0009692 MONDO:equivalentTo Orphanet:824 primary myelofibrosis Primary myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary myelofibrosis -MONDO:0009694 MONDO:equivalentTo Orphanet:2587 myeloperoxidase deficiency Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloperoxidase deficiency -MONDO:0009696 MONDO:equivalentTo Orphanet:307 juvenile myoclonic epilepsy Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy -MONDO:0009697 MONDO:equivalentTo Orphanet:501 Lafora disease Lafora disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lafora disease -MONDO:0009699 MONDO:equivalentTo Orphanet:163696 action myoclonus-renal failure syndrome Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label action myoclonus-renal failure syndrome -MONDO:0009704 MONDO:equivalentTo Orphanet:228302 carnitine palmitoyl transferase II deficiency, myopathic form Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, myopathic form -MONDO:0009705 MONDO:equivalentTo Orphanet:156 carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase 1a deficiency -MONDO:0009706 MONDO:equivalentTo Orphanet:43115 hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary myopathy with lactic acidosis due to iscu deficiency -MONDO:0009710 MONDO:equivalentTo Orphanet:614 Thomsen and Becker disease Thomsen and Becker disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thomsen and becker disease -MONDO:0009711 MONDO:equivalentTo Orphanet:2020 congenital fiber-type disproportion myopathy Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fiber-type disproportion myopathy -MONDO:0009712 MONDO:equivalentTo Orphanet:98905 congenital multicore myopathy with external ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital multicore myopathy with external ophthalmoplegia -MONDO:0009714 MONDO:equivalentTo Orphanet:289380 myosclerosis Myosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myosclerosis -MONDO:0009716 MONDO:equivalentTo Orphanet:3101 Richieri Costa-da Silva syndrome Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richieri costa-da silva syndrome -MONDO:0009717 MONDO:equivalentTo Orphanet:800 Schwartz-Jampel syndrome Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schwartz-jampel syndrome -MONDO:0009719 MONDO:equivalentTo Orphanet:615 familial atrial myxoma Familial atrial myxoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atrial myxoma -MONDO:0009720 MONDO:equivalentTo Orphanet:2662 Keipert syndrome Keipert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome -MONDO:0009721 MONDO:equivalentTo Orphanet:2663 Nathalie syndrome Nathalie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nathalie syndrome -MONDO:0009723 MONDO:equivalentTo Orphanet:506 Leigh syndrome Leigh syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leigh syndrome -MONDO:0009724 MONDO:equivalentTo Orphanet:2613 nail-patella-like renal disease Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail-patella-like renal disease -MONDO:0009727 MONDO:equivalentTo Orphanet:56304 atelosteogenesis type II Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type ii -MONDO:0009731 MONDO:equivalentTo Orphanet:2669 nephrosis-deafness-urinary tract-digital malformations syndrome Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrosis-deafness-urinary tract-digital malformations syndrome -MONDO:0009732 MONDO:equivalentTo Orphanet:839 congenital nephrotic syndrome, Finnish type Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital nephrotic syndrome, finnish type -MONDO:0009735 MONDO:equivalentTo Orphanet:634 Netherton syndrome Netherton syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label netherton syndrome -MONDO:0009737 MONDO:equivalentTo Orphanet:351 galactosialidosis Galactosialidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosialidosis -MONDO:0009738 MONDO:equivalentTo Orphanet:87876 sialidosis type 2 Sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis type 2 -MONDO:0009740 MONDO:equivalentTo Orphanet:2673 neurofaciodigitorenal syndrome Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofaciodigitorenal syndrome -MONDO:0009742 MONDO:equivalentTo Orphanet:33445 neuroectodermal melanolysosomal disease Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroectodermal melanolysosomal disease -MONDO:0009746 MONDO:equivalentTo Orphanet:642 hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 4 -MONDO:0009764 MONDO:equivalentTo Orphanet:1125 ocular motor apraxia, Cogan type Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular motor apraxia, cogan type -MONDO:0009767 MONDO:equivalentTo Orphanet:2719 oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebral hypopigmentation syndrome, cross type -MONDO:0009769 MONDO:equivalentTo Orphanet:2714 oculo-palato-cerebral syndrome Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculo-palato-cerebral syndrome -MONDO:0009771 MONDO:equivalentTo Orphanet:2718 oculotrichodysplasia Oculotrichodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculotrichodysplasia -MONDO:0009773 MONDO:equivalentTo Orphanet:2721 odonto-onycho-dermal dysplasia Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-onycho-dermal dysplasia -MONDO:0009774 MONDO:equivalentTo Orphanet:93929 cloacal exstrophy Cloacal exstrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloacal exstrophy -MONDO:0009777 MONDO:equivalentTo Orphanet:2920 Oliver syndrome Oliver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oliver syndrome -MONDO:0009779 MONDO:equivalentTo Orphanet:93329 autosomal recessive omodysplasia Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive omodysplasia -MONDO:0009780 MONDO:equivalentTo Orphanet:2736 lethal omphalocele-cleft palate syndrome Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal omphalocele-cleft palate syndrome -MONDO:0009785 MONDO:equivalentTo Orphanet:2746 opsismodysplasia Opsismodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opsismodysplasia -MONDO:0009787 MONDO:equivalentTo Orphanet:67047 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 3 -MONDO:0009792 MONDO:equivalentTo Orphanet:2272 ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-oral and digital anomalies syndrome -MONDO:0009801 MONDO:equivalentTo Orphanet:2769 familial osteodysplasia, Anderson type Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial osteodysplasia, anderson type -MONDO:0009803 MONDO:equivalentTo Orphanet:2772 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital osteogenesis imperfecta-microcephaly-cataracts syndrome -MONDO:0009804 MONDO:equivalentTo Orphanet:216812 osteogenesis imperfecta type 3 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 3 -MONDO:0009807 MONDO:equivalentTo Orphanet:668 osteosarcoma Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma -MONDO:0009810 MONDO:equivalentTo Orphanet:2776 autosomal recessive distal osteolysis syndrome Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive distal osteolysis syndrome -MONDO:0009814 MONDO:equivalentTo Orphanet:2324 osteopenia-intellectual disability-sparse hair syndrome Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopenia-intellectual disability-sparse hair syndrome -MONDO:0009820 MONDO:equivalentTo Orphanet:2788 osteoporosis-pseudoglioma syndrome Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-pseudoglioma syndrome -MONDO:0009821 MONDO:equivalentTo Orphanet:1832 lethal osteosclerotic bone dysplasia Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal osteosclerotic bone dysplasia -MONDO:0009822 MONDO:equivalentTo Orphanet:2793 otoonychoperoneal syndrome Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otoonychoperoneal syndrome -MONDO:0009823 MONDO:equivalentTo Orphanet:93598 primary hyperoxaluria type 1 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 1 -MONDO:0009824 MONDO:equivalentTo Orphanet:93599 primary hyperoxaluria type 2 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 2 -MONDO:0009825 MONDO:equivalentTo Orphanet:33572 5-oxoprolinase deficiency 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5-oxoprolinase deficiency -MONDO:0009830 MONDO:equivalentTo Orphanet:171695 parkinsonian-pyramidal syndrome Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinsonian-pyramidal syndrome -MONDO:0009833 MONDO:equivalentTo Orphanet:811 Shwachman-Diamond syndrome Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shwachman-diamond syndrome -MONDO:0009839 MONDO:equivalentTo Orphanet:240085 progressive supranuclear palsy-parkinsonism syndrome Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-parkinsonism syndrome -MONDO:0009841 MONDO:equivalentTo Orphanet:2836 PEHO syndrome PEHO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peho syndrome -MONDO:0009845 MONDO:equivalentTo Orphanet:93333 pelviscapular dysplasia Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelviscapular dysplasia -MONDO:0009846 MONDO:equivalentTo Orphanet:2843 pentosuria Pentosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentosuria -MONDO:0009848 MONDO:equivalentTo Orphanet:345 dissecting cellulitis of the scalp Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissecting cellulitis of the scalp -MONDO:0009849 MONDO:equivalentTo Orphanet:343 hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperimmunoglobulinemia d with periodic fever -MONDO:0009856 MONDO:equivalentTo Orphanet:709 Peters plus syndrome Peters plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peters plus syndrome -MONDO:0009858 MONDO:equivalentTo Orphanet:2871 Pfeiffer-Palm-Teller syndrome Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer-palm-teller syndrome -MONDO:0009859 MONDO:equivalentTo Orphanet:2876 PHAVER syndrome PHAVER syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phaver syndrome -MONDO:0009861 MONDO:equivalentTo Orphanet:716 phenylketonuria Phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phenylketonuria -MONDO:0009862 MONDO:equivalentTo Orphanet:226 dihydropteridine reductase deficiency Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropteridine reductase deficiency -MONDO:0009865 MONDO:equivalentTo Orphanet:97234 glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to phosphoglycerate mutase deficiency -MONDO:0009870 MONDO:equivalentTo Orphanet:2889 pili torti Pili torti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti -MONDO:0009871 MONDO:equivalentTo Orphanet:2891 pili torti-developmental delay-neurological abnormalities syndrome Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti-developmental delay-neurological abnormalities syndrome -MONDO:0009873 MONDO:equivalentTo Orphanet:2892 pilodental dysplasia-refractive errors syndrome Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilodental dysplasia-refractive errors syndrome -MONDO:0009874 MONDO:equivalentTo Orphanet:769 Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabson-mendenhall syndrome -MONDO:0009876 MONDO:equivalentTo Orphanet:231662 isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ia -MONDO:0009877 MONDO:equivalentTo Orphanet:633 Laron syndrome Laron syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laron syndrome -MONDO:0009879 MONDO:equivalentTo Orphanet:629 short stature due to growth hormone qualitative anomaly Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to growth hormone qualitative anomaly -MONDO:0009880 MONDO:equivalentTo Orphanet:85442 short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-pituitary and cerebellar defects-small sella turcica syndrome -MONDO:0009885 MONDO:equivalentTo Orphanet:806 Scott syndrome Scott syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scott syndrome -MONDO:0009887 MONDO:equivalentTo Orphanet:98852 desquamative interstitial pneumonia Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia -MONDO:0009889 MONDO:equivalentTo Orphanet:731 autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive polycystic kidney disease -MONDO:0009895 MONDO:equivalentTo Orphanet:2916 postaxial polydactyly-dental and vertebral anomalies syndrome Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly-dental and vertebral anomalies syndrome -MONDO:0009897 MONDO:equivalentTo Orphanet:206583 adult polyglucosan body disease Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult polyglucosan body disease -MONDO:0009900 MONDO:equivalentTo Orphanet:2934 polysyndactyly-cardiac malformation syndrome Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polysyndactyly-cardiac malformation syndrome -MONDO:0009903 MONDO:equivalentTo Orphanet:246 postaxial acrofacial dysostosis Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial acrofacial dysostosis -MONDO:0009904 MONDO:equivalentTo Orphanet:358 Gitelman syndrome Gitelman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman syndrome -MONDO:0009905 MONDO:equivalentTo Orphanet:3409 urban-Rogers-Meyer syndrome Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urban-rogers-meyer syndrome -MONDO:0009910 MONDO:equivalentTo Orphanet:3455 Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-rautenstrauch syndrome -MONDO:0009914 MONDO:equivalentTo Orphanet:85174 pseudodiastrophic dysplasia Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudodiastrophic dysplasia -MONDO:0009919 MONDO:equivalentTo Orphanet:2971 peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency -MONDO:0009920 MONDO:equivalentTo Orphanet:2980 Acrootoocular syndrome Acrootoocular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrootoocular syndrome -MONDO:0009921 MONDO:equivalentTo Orphanet:2166 holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-postaxial polydactyly syndrome -MONDO:0009926 MONDO:equivalentTo Orphanet:2990 autosomal recessive multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive multiple pterygium syndrome -MONDO:0009928 MONDO:equivalentTo Orphanet:60025 pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary alveolar microlithiasis -MONDO:0009929 MONDO:equivalentTo Orphanet:217563 neonatal acute respiratory distress due to SP-B deficiency Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal acute respiratory distress due to sp-b deficiency -MONDO:0009931 MONDO:equivalentTo Orphanet:1208 pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary atresia-intact ventricular septum syndrome -MONDO:0009933 MONDO:equivalentTo Orphanet:2414 congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary lymphangiectasia -MONDO:0009937 MONDO:equivalentTo Orphanet:31837 pulmonary venoocclusive disease Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disease -MONDO:0009940 MONDO:equivalentTo Orphanet:763 pycnodysostosis Pycnodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycnodysostosis -MONDO:0009942 MONDO:equivalentTo Orphanet:3003 pyknoachondrogenesis Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyknoachondrogenesis -MONDO:0009943 MONDO:equivalentTo Orphanet:3005 Pyle disease Pyle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyle disease -MONDO:0009945 MONDO:equivalentTo Orphanet:3006 pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxine-dependent epilepsy -MONDO:0009946 MONDO:equivalentTo Orphanet:35120 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to pyrimidine 5' nucleotidase deficiency -MONDO:0009947 MONDO:equivalentTo Orphanet:289846 glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutathione synthetase deficiency with 5-oxoprolinuria -MONDO:0009952 MONDO:equivalentTo Orphanet:3270 radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis-developmental delay-hypotonia syndrome -MONDO:0009953 MONDO:equivalentTo Orphanet:99843 leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type ii -MONDO:0009954 MONDO:equivalentTo Orphanet:3019 Ramon syndrome Ramon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ramon syndrome -MONDO:0009955 MONDO:equivalentTo Orphanet:3021 rapadilino syndrome RAPADILINO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapadilino syndrome -MONDO:0009963 MONDO:equivalentTo Orphanet:3404 Ulbright-Hodes syndrome Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulbright-hodes syndrome -MONDO:0009965 MONDO:equivalentTo Orphanet:2849 Perlman syndrome Perlman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perlman syndrome -MONDO:0009966 MONDO:equivalentTo Orphanet:3032 NPHP3-related Meckel-like syndrome NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nphp3-related meckel-like syndrome -MONDO:0009970 MONDO:equivalentTo Orphanet:97369 renal tubular dysgenesis of genetic origin Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis of genetic origin -MONDO:0009973 MONDO:equivalentTo Orphanet:33355 reticular dysgenesis Reticular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular dysgenesis -MONDO:0009978 MONDO:equivalentTo Orphanet:1574 retinal degeneration-nanophthalmos-glaucoma syndrome Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal degeneration-nanophthalmos-glaucoma syndrome -MONDO:0009979 MONDO:equivalentTo Orphanet:99002 reticular dystrophy of the retinal pigment epithelium Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular dystrophy of the retinal pigment epithelium -MONDO:0009990 MONDO:equivalentTo Orphanet:3088 Revesz syndrome Revesz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label revesz syndrome -MONDO:0009993 MONDO:equivalentTo Orphanet:99757 embryonal rhabdomyosarcoma Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal rhabdomyosarcoma -MONDO:0009994 MONDO:equivalentTo Orphanet:99756 alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alveolar rhabdomyosarcoma -MONDO:0009996 MONDO:equivalentTo Orphanet:3098 rhizomelic syndrome, Urbach type Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic syndrome, urbach type -MONDO:0009998 MONDO:equivalentTo Orphanet:3102 Richieri Costa-Pereira syndrome Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richieri costa-pereira syndrome -MONDO:0009999 MONDO:equivalentTo Orphanet:1507 autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive robinow syndrome -MONDO:0010001 MONDO:equivalentTo Orphanet:1806 ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-blindness syndrome -MONDO:0010002 MONDO:equivalentTo Orphanet:2909 Rothmund-Thomson syndrome Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome -MONDO:0010004 MONDO:equivalentTo Orphanet:1896 EEC syndrome EEC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eec syndrome -MONDO:0010005 MONDO:equivalentTo Orphanet:3124 saccharopinuria Saccharopinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label saccharopinuria -MONDO:0010006 MONDO:equivalentTo Orphanet:796 Sandhoff disease Sandhoff disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease -MONDO:0010007 MONDO:equivalentTo Orphanet:2511 microbrachycephaly-ptosis-cleft lip syndrome Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microbrachycephaly-ptosis-cleft lip syndrome -MONDO:0010008 MONDO:equivalentTo Orphanet:3129 sarcosinemia Sarcosinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcosinemia -MONDO:0010010 MONDO:equivalentTo Orphanet:798 Schinzel-Giedion syndrome Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schinzel-giedion syndrome -MONDO:0010011 MONDO:equivalentTo Orphanet:799 schizencephaly Schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizencephaly -MONDO:0010012 MONDO:equivalentTo Orphanet:3143 autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 2 -MONDO:0010013 MONDO:equivalentTo Orphanet:3144 schneckenbecken dysplasia Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schneckenbecken dysplasia -MONDO:0010014 MONDO:equivalentTo Orphanet:85184 craniometadiaphyseal dysplasia, wormian bone type Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniometadiaphyseal dysplasia, wormian bone type -MONDO:0010023 MONDO:equivalentTo Orphanet:911 combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to zap70 deficiency -MONDO:0010026 MONDO:equivalentTo Orphanet:3163 SHORT syndrome SHORT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short syndrome -MONDO:0010027 MONDO:equivalentTo Orphanet:309324 free sialic acid storage disease, infantile form Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label free sialic acid storage disease, infantile form -MONDO:0010028 MONDO:equivalentTo Orphanet:3166 sialuria Sialuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialuria -MONDO:0010033 MONDO:equivalentTo Orphanet:263543 generalized peeling skin syndrome Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized peeling skin syndrome -MONDO:0010035 MONDO:equivalentTo Orphanet:818 Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-lemli-opitz syndrome -MONDO:0010038 MONDO:equivalentTo Orphanet:73273 growth delay due to insulin-like growth factor I resistance Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay due to insulin-like growth factor i resistance -MONDO:0010039 MONDO:equivalentTo Orphanet:1355 congenital heart defect-round face-developmental delay syndrome Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart defect-round face-developmental delay syndrome -MONDO:0010049 MONDO:equivalentTo Orphanet:2818 spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-glaucoma-intellectual disability syndrome -MONDO:0010051 MONDO:equivalentTo Orphanet:3011 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome -MONDO:0010062 MONDO:equivalentTo Orphanet:1185 spinocerebellar ataxia-dysmorphism syndrome Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia-dysmorphism syndrome -MONDO:0010064 MONDO:equivalentTo Orphanet:2572 spastic ataxia-corneal dystrophy syndrome Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia-corneal dystrophy syndrome -MONDO:0010066 MONDO:equivalentTo Orphanet:101351 familial isolated congenital asplenia Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated congenital asplenia -MONDO:0010073 MONDO:equivalentTo Orphanet:163665 spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda, kohn type -MONDO:0010076 MONDO:equivalentTo Orphanet:93351 spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, irapa type -MONDO:0010077 MONDO:equivalentTo Orphanet:93358 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -MONDO:0010079 MONDO:equivalentTo Orphanet:141 Canavan disease Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label canavan disease -MONDO:0010080 MONDO:equivalentTo Orphanet:225154 familial infantile bilateral striatal necrosis Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial infantile bilateral striatal necrosis -MONDO:0010082 MONDO:equivalentTo Orphanet:3191 subaortic stenosis-short stature syndrome Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subaortic stenosis-short stature syndrome -MONDO:0010083 MONDO:equivalentTo Orphanet:22 succinic semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label succinic semialdehyde dehydrogenase deficiency -MONDO:0010085 MONDO:equivalentTo Orphanet:59298 Schilder disease Schilder disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schilder disease -MONDO:0010087 MONDO:equivalentTo Orphanet:498602 Sugarman brachydactyly Sugarman brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sugarman brachydactyly -MONDO:0010089 MONDO:equivalentTo Orphanet:99731 isolated sulfite oxidase deficiency Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sulfite oxidase deficiency -MONDO:0010090 MONDO:equivalentTo Orphanet:3210 Summitt syndrome Summitt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label summitt syndrome -MONDO:0010092 MONDO:equivalentTo Orphanet:3255 Filippi syndrome Filippi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filippi syndrome -MONDO:0010095 MONDO:equivalentTo Orphanet:1178 ataxia-tapetoretinal degeneration syndrome Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-tapetoretinal degeneration syndrome -MONDO:0010100 MONDO:equivalentTo Orphanet:845 Tay-Sachs disease Tay-Sachs disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease -MONDO:0010101 MONDO:equivalentTo Orphanet:3291 Teebi-Shaltout syndrome Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi-shaltout syndrome -MONDO:0010104 MONDO:equivalentTo Orphanet:2972 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome -MONDO:0010110 MONDO:equivalentTo Orphanet:3301 tetraamelia-multiple malformations syndrome Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia-multiple malformations syndrome -MONDO:0010111 MONDO:equivalentTo Orphanet:2723 odontotrichomelic syndrome Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontotrichomelic syndrome -MONDO:0010115 MONDO:equivalentTo Orphanet:1861 thoracic dysplasia-hydrocephalus syndrome Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic dysplasia-hydrocephalus syndrome -MONDO:0010116 MONDO:equivalentTo Orphanet:1803 thoracomelic dysplasia Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracomelic dysplasia -MONDO:0010121 MONDO:equivalentTo Orphanet:3320 thrombocytopenia-absent radius syndrome Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia-absent radius syndrome -MONDO:0010122 MONDO:equivalentTo Orphanet:93583 congenital thrombotic thrombocytopenic purpura Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital thrombotic thrombocytopenic purpura -MONDO:0010123 MONDO:equivalentTo Orphanet:2951 absent thumb-short stature-immunodeficiency syndrome Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent thumb-short stature-immunodeficiency syndrome -MONDO:0010125 MONDO:equivalentTo Orphanet:2489 upper limb defect-eye and ear abnormalities syndrome Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb defect-eye and ear abnormalities syndrome -MONDO:0010128 MONDO:equivalentTo Orphanet:3327 thyrocerebrorenal syndrome Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrocerebrorenal syndrome -MONDO:0010129 MONDO:equivalentTo Orphanet:3326 thymic-renal-anal-lung dysplasia Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic-renal-anal-lung dysplasia -MONDO:0010130 MONDO:equivalentTo Orphanet:1675 dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropyrimidine dehydrogenase deficiency -MONDO:0010132 MONDO:equivalentTo Orphanet:95716 familial thyroid dyshormonogenesis Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroid dyshormonogenesis -MONDO:0010134 MONDO:equivalentTo Orphanet:705 Pendred syndrome Pendred syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pendred syndrome -MONDO:0010139 MONDO:equivalentTo Orphanet:90674 isolated thyroid-stimulating hormone deficiency Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated thyroid-stimulating hormone deficiency -MONDO:0010140 MONDO:equivalentTo Orphanet:238670 isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated thyrotropin-releasing hormone deficiency -MONDO:0010142 MONDO:equivalentTo Orphanet:90673 hypothyroidism due to TSH receptor mutations Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothyroidism due to tsh receptor mutations -MONDO:0010144 MONDO:equivalentTo Orphanet:93322 tibial hemimelia Tibial hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial hemimelia -MONDO:0010146 MONDO:equivalentTo Orphanet:499 Kerion celsi Kerion celsi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kerion celsi -MONDO:0010152 MONDO:equivalentTo Orphanet:3363 trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomegaly-retina pigmentary degeneration-dwarfism syndrome -MONDO:0010153 MONDO:equivalentTo Orphanet:3355 trichoodontoonychial dysplasia Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichoodontoonychial dysplasia -MONDO:0010154 MONDO:equivalentTo Orphanet:3368 trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-bifid nose-acral anomalies syndrome -MONDO:0010164 MONDO:equivalentTo Orphanet:2879 phocomelia, Schinzel type Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phocomelia, schinzel type -MONDO:0010165 MONDO:equivalentTo Orphanet:2249 ulna hypoplasia-intellectual disability syndrome Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulna hypoplasia-intellectual disability syndrome -MONDO:0010167 MONDO:equivalentTo Orphanet:210128 urocanic aciduria Urocanic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urocanic aciduria -MONDO:0010168 MONDO:equivalentTo Orphanet:231169 Usher syndrome type 1 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 1 -MONDO:0010172 MONDO:equivalentTo Orphanet:3412 VACTERL with hydrocephalus VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vacterl with hydrocephalus -MONDO:0010176 MONDO:equivalentTo Orphanet:2754 orofaciodigital syndrome type 6 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 6 -MONDO:0010179 MONDO:equivalentTo Orphanet:439 isolated right ventricular hypoplasia Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated right ventricular hypoplasia -MONDO:0010180 MONDO:equivalentTo Orphanet:2311 autosomal recessive spondylocostal dysostosis Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spondylocostal dysostosis -MONDO:0010181 MONDO:equivalentTo Orphanet:1876 oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculogastrointestinal muscular dystrophy -MONDO:0010193 MONDO:equivalentTo Orphanet:3447 Weaver syndrome Weaver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weaver syndrome -MONDO:0010196 MONDO:equivalentTo Orphanet:902 Werner syndrome Werner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label werner syndrome -MONDO:0010199 MONDO:equivalentTo Orphanet:2475 white forelock with malformations White forelock with malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white forelock with malformations -MONDO:0010200 MONDO:equivalentTo Orphanet:905 Wilson disease Wilson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson disease -MONDO:0010203 MONDO:equivalentTo Orphanet:3080 intellectual disability, Wolff type Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability, wolff type -MONDO:0010204 MONDO:equivalentTo Orphanet:275761 lysosomal acid lipase deficiency Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid lipase deficiency -MONDO:0010208 MONDO:equivalentTo Orphanet:2834 wrinkly skin syndrome Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wrinkly skin syndrome -MONDO:0010209 MONDO:equivalentTo Orphanet:93601 xanthinuria type I Xanthinuria type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthinuria type i -MONDO:0010220 MONDO:equivalentTo Orphanet:3471 Young syndrome Young syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label young syndrome -MONDO:0010221 MONDO:equivalentTo Orphanet:3474 CHIME syndrome CHIME syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chime syndrome -MONDO:0010224 MONDO:equivalentTo Orphanet:2508 corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-abnormal genitalia syndrome -MONDO:0010225 MONDO:equivalentTo Orphanet:93622 Dent disease type 1 Dent disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease type 1 -MONDO:0010235 MONDO:equivalentTo Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-psychosis-macroorchidism syndrome -MONDO:0010237 MONDO:equivalentTo Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-plagiocephaly syndrome -MONDO:0010239 MONDO:equivalentTo Orphanet:2148 lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 1 due to doublecortin gene mutation -MONDO:0010243 MONDO:equivalentTo Orphanet:2571 X-linked immunoneurologic disorder X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunoneurologic disorder -MONDO:0010247 MONDO:equivalentTo Orphanet:139396 X-linked cerebral adrenoleukodystrophy X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebral adrenoleukodystrophy -MONDO:0010248 MONDO:equivalentTo Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spondyloepimetaphyseal dysplasia -MONDO:0010258 MONDO:equivalentTo Orphanet:85282 MEHMO syndrome MEHMO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mehmo syndrome -MONDO:0010263 MONDO:equivalentTo Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -MONDO:0010264 MONDO:equivalentTo Orphanet:95702 X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked adrenal hypoplasia congenita -MONDO:0010268 MONDO:equivalentTo Orphanet:452 X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lissencephaly with abnormal genitalia -MONDO:0010269 MONDO:equivalentTo Orphanet:190 Coats disease Coats disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coats disease -MONDO:0010270 MONDO:equivalentTo Orphanet:85274 syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic x-linked intellectual disability 7 -MONDO:0010271 MONDO:equivalentTo Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myotubular myopathy-abnormal genitalia syndrome -MONDO:0010278 MONDO:equivalentTo Orphanet:85278 Christianson syndrome Christianson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label christianson syndrome -MONDO:0010279 MONDO:equivalentTo Orphanet:88630 terminal osseous dysplasia-pigmentary defects syndrome Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label terminal osseous dysplasia-pigmentary defects syndrome -MONDO:0010288 MONDO:equivalentTo Orphanet:977 adrenomyodystrophy Adrenomyodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyodystrophy -MONDO:0010294 MONDO:equivalentTo Orphanet:86788 X-linked severe congenital neutropenia X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe congenital neutropenia -MONDO:0010295 MONDO:equivalentTo Orphanet:69088 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome -MONDO:0010298 MONDO:equivalentTo Orphanet:510 Lesch-Nyhan syndrome Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome -MONDO:0010299 MONDO:equivalentTo Orphanet:79233 hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoxanthine guanine phosphoribosyltransferase partial deficiency -MONDO:0010306 MONDO:equivalentTo Orphanet:85293 X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cabezas type -MONDO:0010311 MONDO:equivalentTo Orphanet:98895 Becker muscular dystrophy Becker muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label becker muscular dystrophy -MONDO:0010315 MONDO:equivalentTo Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to gamma chain deficiency -MONDO:0010323 MONDO:equivalentTo Orphanet:1193 Atkin-Flaitz syndrome Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atkin-flaitz syndrome -MONDO:0010325 MONDO:equivalentTo Orphanet:85288 X-linked intellectual disability, Stocco dos Santos type X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stocco dos santos type -MONDO:0010328 MONDO:equivalentTo Orphanet:231401 alpha-thalassemia-myelodysplastic syndrome Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-thalassemia-myelodysplastic syndrome -MONDO:0010332 MONDO:equivalentTo Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cubitus valgus-dysmorphism syndrome -MONDO:0010333 MONDO:equivalentTo Orphanet:52055 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome -MONDO:0010334 MONDO:equivalentTo Orphanet:369939 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome -MONDO:0010337 MONDO:equivalentTo Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cerebellar hypoplasia syndrome -MONDO:0010338 MONDO:equivalentTo Orphanet:139557 X-linked distal spinal muscular atrophy type 3 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked distal spinal muscular atrophy type 3 -MONDO:0010354 MONDO:equivalentTo Orphanet:59 Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allan-herndon-dudley syndrome -MONDO:0010356 MONDO:equivalentTo Orphanet:93606 nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic syndrome of inappropriate antidiuresis -MONDO:0010359 MONDO:equivalentTo Orphanet:93623 Dent disease type 2 Dent disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease type 2 -MONDO:0010364 MONDO:equivalentTo Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-retinitis pigmentosa syndrome -MONDO:0010367 MONDO:equivalentTo Orphanet:314795 SHOX-related short stature SHOX-related short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shox-related short stature -MONDO:0010382 MONDO:equivalentTo Orphanet:93256 fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fragile x-associated tremor/ataxia syndrome -MONDO:0010383 MONDO:equivalentTo Orphanet:908 fragile X syndrome Fragile X syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fragile x syndrome -MONDO:0010385 MONDO:equivalentTo Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lymphoproliferative disease due to xiap deficiency -MONDO:0010389 MONDO:equivalentTo Orphanet:319623 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency -MONDO:0010390 MONDO:equivalentTo Orphanet:1000 ocular albinism with late-onset sensorineural deafness Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism with late-onset sensorineural deafness -MONDO:0010392 MONDO:equivalentTo Orphanet:713 glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to phosphoglycerate kinase 1 deficiency -MONDO:0010395 MONDO:equivalentTo Orphanet:3222 phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phosphoribosylpyrophosphate synthetase superactivity -MONDO:0010397 MONDO:equivalentTo Orphanet:209370 severe neonatal-onset encephalopathy with microcephaly Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neonatal-onset encephalopathy with microcephaly -MONDO:0010400 MONDO:equivalentTo Orphanet:431272 X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked scapuloperoneal muscular dystrophy -MONDO:0010401 MONDO:equivalentTo Orphanet:178461 X-linked myopathy with postural muscle atrophy X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myopathy with postural muscle atrophy -MONDO:0010404 MONDO:equivalentTo Orphanet:314978 X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked non progressive cerebellar ataxia -MONDO:0010408 MONDO:equivalentTo Orphanet:140952 syndactyly-telecanthus-anogenital and renal malformations syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-telecanthus-anogenital and renal malformations syndrome -MONDO:0010412 MONDO:equivalentTo Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-craniofacioskeletal syndrome -MONDO:0010420 MONDO:equivalentTo Orphanet:443197 X-linked erythropoietic protoporphyria X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked erythropoietic protoporphyria -MONDO:0010425 MONDO:equivalentTo Orphanet:98955 Lisch epithelial corneal dystrophy Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lisch epithelial corneal dystrophy -MONDO:0010426 MONDO:equivalentTo Orphanet:293621 X-linked endothelial corneal dystrophy X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked endothelial corneal dystrophy -MONDO:0010434 MONDO:equivalentTo Orphanet:3273 synovial sarcoma Synovial sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synovial sarcoma -MONDO:0010437 MONDO:equivalentTo Orphanet:238329 severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe x-linked mitochondrial encephalomyopathy -MONDO:0010441 MONDO:equivalentTo Orphanet:251383 CK syndrome CK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ck syndrome -MONDO:0010446 MONDO:equivalentTo Orphanet:90001 X-linked cone dysfunction syndrome with myopia X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cone dysfunction syndrome with myopia -MONDO:0010448 MONDO:equivalentTo Orphanet:280679 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome -MONDO:0010455 MONDO:equivalentTo Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia -MONDO:0010457 MONDO:equivalentTo Orphanet:276432 Ogden syndrome Ogden syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome -MONDO:0010463 MONDO:equivalentTo Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant chondrodysplasia, chassaing-lacombe type -MONDO:0010467 MONDO:equivalentTo Orphanet:261483 Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq27.3q28 duplication syndrome -MONDO:0010473 MONDO:equivalentTo Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome -MONDO:0010475 MONDO:equivalentTo Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked central congenital hypothyroidism with late-onset testicular enlargement -MONDO:0010482 MONDO:equivalentTo Orphanet:363654 X-linked parkinsonism-spasticity syndrome X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked parkinsonism-spasticity syndrome -MONDO:0010483 MONDO:equivalentTo Orphanet:85277 X-linked intellectual disability, Cantagrel type X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cantagrel type -MONDO:0010485 MONDO:equivalentTo Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -MONDO:0010496 MONDO:equivalentTo Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-short stature-overweight syndrome -MONDO:0010498 MONDO:equivalentTo Orphanet:401973 MEND syndrome MEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mend syndrome -MONDO:0010505 MONDO:equivalentTo Orphanet:3041 intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-balding-patella luxation-acromicria syndrome -MONDO:0010507 MONDO:equivalentTo Orphanet:521258 Xq25 microduplication syndrome Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome -MONDO:0010514 MONDO:equivalentTo Orphanet:504530 combined immunodeficiency due to moesin deficiency Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to moesin deficiency -MONDO:0010518 MONDO:equivalentTo Orphanet:906 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome -MONDO:0010520 MONDO:equivalentTo Orphanet:88917 X-linked Alport syndrome X-linked Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked alport syndrome -MONDO:0010523 MONDO:equivalentTo Orphanet:85453 X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked reticulate pigmentary disorder -MONDO:0010526 MONDO:equivalentTo Orphanet:324 Fabry disease Fabry disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fabry disease -MONDO:0010529 MONDO:equivalentTo Orphanet:85297 X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 -MONDO:0010531 MONDO:equivalentTo Orphanet:1484 contractures-ectodermal dysplasia-cleft lip/palate syndrome Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures-ectodermal dysplasia-cleft lip/palate syndrome -MONDO:0010532 MONDO:equivalentTo Orphanet:1145 infantile-onset X-linked spinal muscular atrophy Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset x-linked spinal muscular atrophy -MONDO:0010534 MONDO:equivalentTo Orphanet:85292 X-linked spinocerebellar ataxia type 4 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 -MONDO:0010537 MONDO:equivalentTo Orphanet:127 Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010538 MONDO:equivalentTo Orphanet:2565 Mononen-Karnes-Senac syndrome Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononen-karnes-senac syndrome -MONDO:0010539 MONDO:equivalentTo Orphanet:1131 X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mandibulofacial dysostosis -MONDO:0010541 MONDO:equivalentTo Orphanet:391327 X-linked calvarial hyperostosis X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked calvarial hyperostosis -MONDO:0010543 MONDO:equivalentTo Orphanet:111 Barth syndrome Barth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label barth syndrome -MONDO:0010545 MONDO:equivalentTo Orphanet:627 Nance-Horan syndrome Nance-Horan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nance-horan syndrome -MONDO:0010547 MONDO:equivalentTo Orphanet:1175 X-linked progressive cerebellar ataxia X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked progressive cerebellar ataxia -MONDO:0010554 MONDO:equivalentTo Orphanet:921 Abruzzo-Erickson syndrome Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abruzzo-erickson syndrome -MONDO:0010557 MONDO:equivalentTo Orphanet:180 choroideremia Choroideremia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroideremia -MONDO:0010559 MONDO:equivalentTo Orphanet:2466 MASA syndrome MASA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label masa syndrome -MONDO:0010561 MONDO:equivalentTo Orphanet:192 Coffin-Lowry syndrome Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-lowry syndrome -MONDO:0010562 MONDO:equivalentTo Orphanet:1198 colonic atresia Colonic atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colonic atresia -MONDO:0010568 MONDO:equivalentTo Orphanet:50 Aicardi syndrome Aicardi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi syndrome -MONDO:0010569 MONDO:equivalentTo Orphanet:1497 X-linked complicated corpus callosum dysgenesis X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked complicated corpus callosum dysgenesis -MONDO:0010571 MONDO:equivalentTo Orphanet:90652 otopalatodigital syndrome type 2 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome type 2 -MONDO:0010572 MONDO:equivalentTo Orphanet:198 occipital horn syndrome Occipital horn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital horn syndrome -MONDO:0010575 MONDO:equivalentTo Orphanet:90646 deafness-hypogonadism syndrome Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-hypogonadism syndrome -MONDO:0010579 MONDO:equivalentTo Orphanet:1661 X-linked corneal dermoid X-linked corneal dermoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked corneal dermoid -MONDO:0010580 MONDO:equivalentTo Orphanet:37042 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome -MONDO:0010585 MONDO:equivalentTo Orphanet:181 X-linked hypohidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked hypohidrotic ectodermal dysplasia -MONDO:0010586 MONDO:equivalentTo Orphanet:75497 X-linked Ehlers-Danlos syndrome X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked ehlers-danlos syndrome -MONDO:0010591 MONDO:equivalentTo Orphanet:97232 fingerprint body myopathy Fingerprint body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fingerprint body myopathy -MONDO:0010592 MONDO:equivalentTo Orphanet:2092 focal dermal hypoplasia Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal dermal hypoplasia -MONDO:0010602 MONDO:equivalentTo Orphanet:98878 hemophilia A Hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia a -MONDO:0010604 MONDO:equivalentTo Orphanet:98879 hemophilia B Hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b -MONDO:0010612 MONDO:equivalentTo Orphanet:1397 hydrocephaly-cerebellar agenesis syndrome Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephaly-cerebellar agenesis syndrome -MONDO:0010614 MONDO:equivalentTo Orphanet:79495 X-linked congenital generalized hypertrichosis X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked congenital generalized hypertrichosis -MONDO:0010615 MONDO:equivalentTo Orphanet:231692 isolated growth hormone deficiency type III Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type iii -MONDO:0010617 MONDO:equivalentTo Orphanet:2234 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome -MONDO:0010618 MONDO:equivalentTo Orphanet:2239 familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hypoparathyroidism due to agenesis of parathyroid gland -MONDO:0010621 MONDO:equivalentTo Orphanet:139 CHILD syndrome CHILD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label child syndrome -MONDO:0010622 MONDO:equivalentTo Orphanet:461 recessive X-linked ichthyosis Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive x-linked ichthyosis -MONDO:0010631 MONDO:equivalentTo Orphanet:464 incontinentia pigmenti Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti -MONDO:0010638 MONDO:equivalentTo Orphanet:2339 keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis-dwarfism-cerebral atrophy syndrome -MONDO:0010639 MONDO:equivalentTo Orphanet:2375 laryngeal abductor paralysis-intellectual disability syndrome Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis-intellectual disability syndrome -MONDO:0010649 MONDO:equivalentTo Orphanet:91489 isolated congenital megalocornea Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital megalocornea -MONDO:0010650 MONDO:equivalentTo Orphanet:2484 Melnick-Needles syndrome Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melnick-needles syndrome -MONDO:0010651 MONDO:equivalentTo Orphanet:565 Menkes disease Menkes disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menkes disease -MONDO:0010652 MONDO:equivalentTo Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-seizures-psoriasis syndrome -MONDO:0010653 MONDO:equivalentTo Orphanet:3242 Renpenning syndrome Renpenning syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome -MONDO:0010654 MONDO:equivalentTo Orphanet:94083 Partington syndrome Partington syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partington syndrome -MONDO:0010657 MONDO:equivalentTo Orphanet:369962 methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia with homocystinuria, type cblx -MONDO:0010659 MONDO:equivalentTo Orphanet:100973 FRAXE intellectual disability FRAXE intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraxe intellectual disability -MONDO:0010661 MONDO:equivalentTo Orphanet:3078 severe X-linked intellectual disability, Gustavson type Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe x-linked intellectual disability, gustavson type -MONDO:0010662 MONDO:equivalentTo Orphanet:2824 paraplegia-intellectual disability-hyperkeratosis syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraplegia-intellectual disability-hyperkeratosis syndrome -MONDO:0010665 MONDO:equivalentTo Orphanet:3459 Wilson-Turner syndrome Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-turner syndrome -MONDO:0010669 MONDO:equivalentTo Orphanet:2498 syndactyly type 8 Syndactyly type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 8 -MONDO:0010674 MONDO:equivalentTo Orphanet:580 mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2 -MONDO:0010679 MONDO:equivalentTo Orphanet:98896 Duchenne muscular dystrophy Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duchenne muscular dystrophy -MONDO:0010680 MONDO:equivalentTo Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked emery-dreifuss muscular dystrophy -MONDO:0010683 MONDO:equivalentTo Orphanet:596 X-linked centronuclear myopathy X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked centronuclear myopathy -MONDO:0010684 MONDO:equivalentTo Orphanet:25980 X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myopathy with excessive autophagy -MONDO:0010686 MONDO:equivalentTo Orphanet:2608 N syndrome N syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label n syndrome -MONDO:0010691 MONDO:equivalentTo Orphanet:649 Norrie disease Norrie disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label norrie disease -MONDO:0010704 MONDO:equivalentTo Orphanet:90650 otopalatodigital syndrome type 1 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome type 1 -MONDO:0010709 MONDO:equivalentTo Orphanet:2379 early-onset parkinsonism-intellectual disability syndrome Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset parkinsonism-intellectual disability syndrome -MONDO:0010710 MONDO:equivalentTo Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierre robin syndrome-faciodigital anomaly syndrome -MONDO:0010711 MONDO:equivalentTo Orphanet:2886 TARP syndrome TARP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarp syndrome -MONDO:0010714 MONDO:equivalentTo Orphanet:702 Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease -MONDO:0010716 MONDO:equivalentTo Orphanet:79447 X-linked lethal multiple pterygium syndrome X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lethal multiple pterygium syndrome -MONDO:0010717 MONDO:equivalentTo Orphanet:79243 pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010718 MONDO:equivalentTo Orphanet:3016 absent radius-anogenital anomalies syndrome Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent radius-anogenital anomalies syndrome -MONDO:0010720 MONDO:equivalentTo Orphanet:90797 partial androgen insensitivity syndrome Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial androgen insensitivity syndrome -MONDO:0010722 MONDO:equivalentTo Orphanet:1852 X-linked retinal dysplasia X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked retinal dysplasia -MONDO:0010725 MONDO:equivalentTo Orphanet:792 X-linked retinoschisis X-linked retinoschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked retinoschisis -MONDO:0010726 MONDO:equivalentTo Orphanet:778 Rett syndrome Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome -MONDO:0010728 MONDO:equivalentTo Orphanet:3134 SCARF syndrome SCARF syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarf syndrome -MONDO:0010729 MONDO:equivalentTo Orphanet:85285 X-linked intellectual disability, Schimke type X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, schimke type -MONDO:0010731 MONDO:equivalentTo Orphanet:373 Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simpson-golabi-behmel syndrome -MONDO:0010732 MONDO:equivalentTo Orphanet:2815 spastic paraparesis-deafness syndrome Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraparesis-deafness syndrome -MONDO:0010735 MONDO:equivalentTo Orphanet:481 Kennedy disease Kennedy disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kennedy disease -MONDO:0010738 MONDO:equivalentTo Orphanet:168544 spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, golden type -MONDO:0010742 MONDO:equivalentTo Orphanet:1335 pentalogy of Cantrell Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentalogy of cantrell -MONDO:0010745 MONDO:equivalentTo Orphanet:231393 beta-thalassemia-X-linked thrombocytopenia syndrome Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia-x-linked thrombocytopenia syndrome -MONDO:0010747 MONDO:equivalentTo Orphanet:53351 X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dystonia-parkinsonism -MONDO:0010748 MONDO:equivalentTo Orphanet:3341 torticollis-keloids-cryptorchidism-renal dysplasia syndrome Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torticollis-keloids-cryptorchidism-renal dysplasia syndrome -MONDO:0010749 MONDO:equivalentTo Orphanet:3369 trigonocephaly-short stature-developmental delay syndrome Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-short stature-developmental delay syndrome -MONDO:0010750 MONDO:equivalentTo Orphanet:1122 ulnar hypoplasia-split foot syndrome Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar hypoplasia-split foot syndrome -MONDO:0010754 MONDO:equivalentTo Orphanet:3417 van den Bosch syndrome Van den Bosch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van den bosch syndrome -MONDO:0010759 MONDO:equivalentTo Orphanet:3456 Wildervanck syndrome Wildervanck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wildervanck syndrome -MONDO:0010765 MONDO:equivalentTo Orphanet:242 46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy complete gonadal dysgenesis -MONDO:0010768 MONDO:equivalentTo Orphanet:206484 gonadoblastoma Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma -MONDO:0010771 MONDO:equivalentTo Orphanet:137675 histiocytoid cardiomyopathy Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytoid cardiomyopathy -MONDO:0010780 MONDO:equivalentTo Orphanet:254864 mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy with reversible cytochrome c oxidase deficiency -MONDO:0010785 MONDO:equivalentTo Orphanet:225 maternally-inherited diabetes and deafness Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternally-inherited diabetes and deafness -MONDO:0010786 MONDO:equivalentTo Orphanet:1670 chronic diarrhea with villous atrophy Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic diarrhea with villous atrophy -MONDO:0010787 MONDO:equivalentTo Orphanet:480 Kearns-Sayre syndrome Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kearns-sayre syndrome -MONDO:0010788 MONDO:equivalentTo Orphanet:104 Leber hereditary optic neuropathy Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy -MONDO:0010792 MONDO:equivalentTo Orphanet:254857 lethal infantile mitochondrial myopathy Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal infantile mitochondrial myopathy -MONDO:0010794 MONDO:equivalentTo Orphanet:644 NARP syndrome NARP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narp syndrome -MONDO:0010797 MONDO:equivalentTo Orphanet:699 Pearson syndrome Pearson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pearson syndrome -MONDO:0010801 MONDO:equivalentTo Orphanet:3180 spondylocamptodactyly syndrome Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylocamptodactyly syndrome -MONDO:0010802 MONDO:equivalentTo Orphanet:2255 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic hypoplasia-diabetes-congenital heart disease syndrome -MONDO:0010803 MONDO:equivalentTo Orphanet:79106 Eiken syndrome Eiken syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eiken syndrome -MONDO:0010805 MONDO:equivalentTo Orphanet:93930 bladder exstrophy Bladder exstrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder exstrophy -MONDO:0010808 MONDO:equivalentTo Orphanet:466 fatal familial insomnia Fatal familial insomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal familial insomnia -MONDO:0010821 MONDO:equivalentTo Orphanet:1799 familial developmental dysphasia Familial developmental dysphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial developmental dysphasia -MONDO:0010823 MONDO:equivalentTo Orphanet:309803 rhizomelic chondrodysplasia punctata type 3 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 3 -MONDO:0010825 MONDO:equivalentTo Orphanet:1352 atrioventricular defect-blepharophimosis-radial and anal defect syndrome Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular defect-blepharophimosis-radial and anal defect syndrome -MONDO:0010826 MONDO:equivalentTo Orphanet:64280 childhood absence epilepsy Childhood absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy -MONDO:0010831 MONDO:equivalentTo Orphanet:1768 familial caudal dysgenesis Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial caudal dysgenesis -MONDO:0010835 MONDO:equivalentTo Orphanet:2988 pterygium colli-intellectual disability-digital anomalies syndrome Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium colli-intellectual disability-digital anomalies syndrome -MONDO:0010840 MONDO:equivalentTo Orphanet:2798 pachygyria-intellectual disability-epilepsy syndrome Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria-intellectual disability-epilepsy syndrome -MONDO:0010847 MONDO:equivalentTo Orphanet:98765 spinocerebellar ataxia type 4 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 4 -MONDO:0010848 MONDO:equivalentTo Orphanet:98766 spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 5 -MONDO:0010850 MONDO:equivalentTo Orphanet:141258 Tessier number 4 facial cleft Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 4 facial cleft -MONDO:0010851 MONDO:equivalentTo Orphanet:2409 Lowry-MacLean syndrome Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowry-maclean syndrome -MONDO:0010854 MONDO:equivalentTo Orphanet:3339 Toriello-Lacassie-Droste syndrome Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toriello-lacassie-droste syndrome -MONDO:0010855 MONDO:equivalentTo Orphanet:2832 short tarsus-absence of lower eyelashes syndrome Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short tarsus-absence of lower eyelashes syndrome -MONDO:0010856 MONDO:equivalentTo Orphanet:88924 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis -MONDO:0010857 MONDO:equivalentTo Orphanet:100069 semantic dementia Semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia -MONDO:0010858 MONDO:equivalentTo Orphanet:2429 macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-spastic paraplegia-dysmorphism syndrome -MONDO:0010865 MONDO:equivalentTo Orphanet:221120 pseudoaminopterin syndrome Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoaminopterin syndrome -MONDO:0010866 MONDO:equivalentTo Orphanet:85179 infantile osteopetrosis with neuroaxonal dysplasia Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile osteopetrosis with neuroaxonal dysplasia -MONDO:0010867 MONDO:equivalentTo Orphanet:2825 PARC syndrome PARC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parc syndrome -MONDO:0010870 MONDO:equivalentTo Orphanet:609 tibial muscular dystrophy Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial muscular dystrophy -MONDO:0010879 MONDO:equivalentTo Orphanet:1458 CODAS syndrome CODAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label codas syndrome -MONDO:0010881 MONDO:equivalentTo Orphanet:2496 mesomelia-synostoses syndrome Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelia-synostoses syndrome -MONDO:0010882 MONDO:equivalentTo Orphanet:1113 aphalangy-syndactyly-microcephaly syndrome Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphalangy-syndactyly-microcephaly syndrome -MONDO:0010883 MONDO:equivalentTo Orphanet:2835 pectus excavatum-macrocephaly-dysplastic nails syndrome Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum-macrocephaly-dysplastic nails syndrome -MONDO:0010886 MONDO:equivalentTo Orphanet:1001 2q37 microdeletion syndrome 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q37 microdeletion syndrome -MONDO:0010887 MONDO:equivalentTo Orphanet:3387 isolated anterior cervical hypertrichosis Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated anterior cervical hypertrichosis -MONDO:0010889 MONDO:equivalentTo Orphanet:1682 arterial dissection-lentiginosis syndrome Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial dissection-lentiginosis syndrome -MONDO:0010890 MONDO:equivalentTo Orphanet:2008 acrocardiofacial syndrome Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocardiofacial syndrome -MONDO:0010891 MONDO:equivalentTo Orphanet:1046 lethal hemolytic anemia-genital anomalies syndrome Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal hemolytic anemia-genital anomalies syndrome -MONDO:0010898 MONDO:equivalentTo Orphanet:101046 autosomal dominant epilepsy with auditory features Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epilepsy with auditory features -MONDO:0010901 MONDO:equivalentTo Orphanet:2119 HEC syndrome HEC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hec syndrome -MONDO:0010902 MONDO:equivalentTo Orphanet:163662 spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, reardon type -MONDO:0010908 MONDO:equivalentTo Orphanet:168 loose anagen syndrome Loose anagen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loose anagen syndrome -MONDO:0010913 MONDO:equivalentTo Orphanet:53035 Caroli disease Caroli disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli disease -MONDO:0010914 MONDO:equivalentTo Orphanet:228305 carnitine palmitoyl transferase II deficiency, severe infantile form Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, severe infantile form -MONDO:0010920 MONDO:equivalentTo Orphanet:83463 microtia Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia -MONDO:0010921 MONDO:equivalentTo Orphanet:141103 nasal dermoid cyst Nasal dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal dermoid cyst -MONDO:0010922 MONDO:equivalentTo Orphanet:3130 Satoyoshi syndrome Satoyoshi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label satoyoshi syndrome -MONDO:0010923 MONDO:equivalentTo Orphanet:521305 proximal myopathy with focal depletion of mitochondria Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal myopathy with focal depletion of mitochondria -MONDO:0010924 MONDO:equivalentTo Orphanet:79315 D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d-2-hydroxyglutaric aciduria -MONDO:0010925 MONDO:equivalentTo Orphanet:3424 velo-facial-skeletal syndrome Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label velo-facial-skeletal syndrome -MONDO:0010930 MONDO:equivalentTo Orphanet:1104 anophthalmia plus syndrome Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia plus syndrome -MONDO:0010932 MONDO:equivalentTo Orphanet:75373 progressive bifocal chorioretinal atrophy Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive bifocal chorioretinal atrophy -MONDO:0010938 MONDO:equivalentTo Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to jak3 deficiency -MONDO:0010947 MONDO:equivalentTo Orphanet:131 Budd-Chiari syndrome Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome -MONDO:0010959 MONDO:equivalentTo Orphanet:2460 van den Ende-Gupta syndrome Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van den ende-gupta syndrome -MONDO:0010961 MONDO:equivalentTo Orphanet:71528 obesity due to prohormone convertase I deficiency Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to prohormone convertase i deficiency -MONDO:0010972 MONDO:equivalentTo Orphanet:2180 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome -MONDO:0010977 MONDO:equivalentTo Orphanet:53347 Brody myopathy Brody myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brody myopathy -MONDO:0010979 MONDO:equivalentTo Orphanet:65283 Timothy syndrome Timothy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome -MONDO:0010981 MONDO:equivalentTo Orphanet:3328 absent tibia-polydactyly-arachnoid cyst syndrome Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent tibia-polydactyly-arachnoid cyst syndrome -MONDO:0010988 MONDO:equivalentTo Orphanet:1117 aplasia cutis-myopia syndrome Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis-myopia syndrome -MONDO:0010989 MONDO:equivalentTo Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-küster-hauser syndrome type 2 -MONDO:0010993 MONDO:equivalentTo Orphanet:2115 Harrod syndrome Harrod syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harrod syndrome -MONDO:0010995 MONDO:equivalentTo Orphanet:101083 Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1c -MONDO:0010999 MONDO:equivalentTo Orphanet:3304 fallot complex-intellectual disability-growth delay syndrome Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fallot complex-intellectual disability-growth delay syndrome -MONDO:0011004 MONDO:equivalentTo Orphanet:86822 lissencephaly type 3-metacarpal bone dysplasia syndrome Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3-metacarpal bone dysplasia syndrome -MONDO:0011007 MONDO:equivalentTo Orphanet:2141 diaphragmatic defect-limb deficiency-skull defect syndrome Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic defect-limb deficiency-skull defect syndrome -MONDO:0011008 MONDO:equivalentTo Orphanet:2001 cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-intestinal malrotation-cardiopathy syndrome -MONDO:0011010 MONDO:equivalentTo Orphanet:2470 Matthew-Wood syndrome Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label matthew-wood syndrome -MONDO:0011011 MONDO:equivalentTo Orphanet:1858 skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal dysplasia-epilepsy-short stature syndrome -MONDO:0011014 MONDO:equivalentTo Orphanet:64742 pleuropulmonary blastoma Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma -MONDO:0011017 MONDO:equivalentTo Orphanet:34217 Naxos disease Naxos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label naxos disease -MONDO:0011018 MONDO:equivalentTo Orphanet:2899 brachyolmia-amelogenesis imperfecta syndrome Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia-amelogenesis imperfecta syndrome -MONDO:0011019 MONDO:equivalentTo Orphanet:1014 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome -MONDO:0011020 MONDO:equivalentTo Orphanet:2786 osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-oculocutaneous hypopigmentation syndrome -MONDO:0011022 MONDO:equivalentTo Orphanet:52022 Potocki-Shaffer syndrome Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label potocki-shaffer syndrome -MONDO:0011023 MONDO:equivalentTo Orphanet:157794 hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary mixed polyposis syndrome -MONDO:0011034 MONDO:equivalentTo Orphanet:1811 odontomicronychial dysplasia Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontomicronychial dysplasia -MONDO:0011035 MONDO:equivalentTo Orphanet:638 neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis-noonan syndrome -MONDO:0011036 MONDO:equivalentTo Orphanet:2941 porencephaly-cerebellar hypoplasia-internal malformations syndrome Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly-cerebellar hypoplasia-internal malformations syndrome -MONDO:0011038 MONDO:equivalentTo Orphanet:1171 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome -MONDO:0011041 MONDO:equivalentTo Orphanet:69083 ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia with natal teeth, turnpenny type -MONDO:0011045 MONDO:equivalentTo Orphanet:3434 MMEP syndrome MMEP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mmep syndrome -MONDO:0011046 MONDO:equivalentTo Orphanet:2867 short stature, Brussels type Short stature, Brussels type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature, brussels type -MONDO:0011047 MONDO:equivalentTo Orphanet:3218 deafness-epiphyseal dysplasia-short stature syndrome Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-epiphyseal dysplasia-short stature syndrome -MONDO:0011048 MONDO:equivalentTo Orphanet:1948 epilepsy-microcephaly-skeletal dysplasia syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy-microcephaly-skeletal dysplasia syndrome -MONDO:0011050 MONDO:equivalentTo Orphanet:2516 microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cardiac defect-lung malsegmentation syndrome -MONDO:0011054 MONDO:equivalentTo Orphanet:1027 autosomal recessive amelia Autosomal recessive amelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive amelia -MONDO:0011059 MONDO:equivalentTo Orphanet:2163 holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-craniosynostosis syndrome -MONDO:0011060 MONDO:equivalentTo Orphanet:91492 early-onset non-syndromic cataract Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset non-syndromic cataract -MONDO:0011062 MONDO:equivalentTo Orphanet:1126 aprosencephaly cerebellar dysgenesis Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly cerebellar dysgenesis -MONDO:0011063 MONDO:equivalentTo Orphanet:1808 hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrotic ectodermal dysplasia, christianson-fourie type -MONDO:0011066 MONDO:equivalentTo Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b1 -MONDO:0011079 MONDO:equivalentTo Orphanet:2831 rhizomelic dysplasia, Patterson-Lowry type Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic dysplasia, patterson-lowry type -MONDO:0011080 MONDO:equivalentTo Orphanet:3235 progressive deafness with stapes fixation Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive deafness with stapes fixation -MONDO:0011081 MONDO:equivalentTo Orphanet:2412 dislocation of the hip-dysmorphism syndrome Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dislocation of the hip-dysmorphism syndrome -MONDO:0011082 MONDO:equivalentTo Orphanet:398156 oculoauriculofrontonasal syndrome Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoauriculofrontonasal syndrome -MONDO:0011083 MONDO:equivalentTo Orphanet:3351 trichodental syndrome Trichodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodental syndrome -MONDO:0011085 MONDO:equivalentTo Orphanet:99950 Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4d -MONDO:0011090 MONDO:equivalentTo Orphanet:306527 isolated hereditary congenital facial paralysis Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hereditary congenital facial paralysis -MONDO:0011096 MONDO:equivalentTo Orphanet:33110 autosomal agammaglobulinemia Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal agammaglobulinemia -MONDO:0011106 MONDO:equivalentTo Orphanet:412022 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome -MONDO:0011109 MONDO:equivalentTo Orphanet:166016 multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, lowry type -MONDO:0011113 MONDO:equivalentTo Orphanet:99949 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4c -MONDO:0011114 MONDO:equivalentTo Orphanet:867 familial multiple trichoepithelioma Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple trichoepithelioma -MONDO:0011116 MONDO:equivalentTo Orphanet:1120 lung agenesis-heart defect-thumb anomalies syndrome Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung agenesis-heart defect-thumb anomalies syndrome -MONDO:0011124 MONDO:equivalentTo Orphanet:168451 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-abnormal dentition syndrome -MONDO:0011128 MONDO:equivalentTo Orphanet:1147 Sheldon-hall syndrome Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sheldon-hall syndrome -MONDO:0011133 MONDO:equivalentTo Orphanet:3214 deaf blind hypopigmentation syndrome, Yemenite type Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deaf blind hypopigmentation syndrome, yemenite type -MONDO:0011134 MONDO:equivalentTo Orphanet:1553 Curry-Jones syndrome Curry-Jones syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label curry-jones syndrome -MONDO:0011136 MONDO:equivalentTo Orphanet:220436 Quebec platelet disorder Quebec platelet disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label quebec platelet disorder -MONDO:0011146 MONDO:equivalentTo Orphanet:884 tetrasomy 12p Tetrasomy 12p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 12p -MONDO:0011150 MONDO:equivalentTo Orphanet:363665 acroosteolysis-keloid-like lesions-premature aging syndrome Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acroosteolysis-keloid-like lesions-premature aging syndrome -MONDO:0011154 MONDO:equivalentTo Orphanet:1787 acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, palagonia type -MONDO:0011156 MONDO:equivalentTo Orphanet:79304 progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 2 -MONDO:0011166 MONDO:equivalentTo Orphanet:86915 lymphedema-atrial septal defects-facial changes syndrome Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-atrial septal defects-facial changes syndrome -MONDO:0011169 MONDO:equivalentTo Orphanet:281201 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome -MONDO:0011171 MONDO:equivalentTo Orphanet:69082 odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-tricho-ungual-digito-palmar syndrome -MONDO:0011178 MONDO:equivalentTo Orphanet:31709 infantile convulsions and choreoathetosis Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile convulsions and choreoathetosis -MONDO:0011185 MONDO:equivalentTo Orphanet:98960 Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiel-behnke corneal dystrophy -MONDO:0011197 MONDO:equivalentTo Orphanet:84093 hereditary thermosensitive neuropathy Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary thermosensitive neuropathy -MONDO:0011198 MONDO:equivalentTo Orphanet:93356 spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, missouri type -MONDO:0011202 MONDO:equivalentTo Orphanet:140976 RHYNS syndrome RHYNS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhyns syndrome -MONDO:0011208 MONDO:equivalentTo Orphanet:679 malignant atrophic papulosis Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant atrophic papulosis -MONDO:0011211 MONDO:equivalentTo Orphanet:168549 axial spondylometaphyseal dysplasia Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial spondylometaphyseal dysplasia -MONDO:0011213 MONDO:equivalentTo Orphanet:487825 Pierpont syndrome Pierpont syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierpont syndrome -MONDO:0011214 MONDO:equivalentTo Orphanet:79305 progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 3 -MONDO:0011215 MONDO:equivalentTo Orphanet:2763 osteocraniostenosis Osteocraniostenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteocraniostenosis -MONDO:0011217 MONDO:equivalentTo Orphanet:35107 desmosterolosis Desmosterolosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmosterolosis -MONDO:0011219 MONDO:equivalentTo Orphanet:99672 Fried's tooth and nail syndrome Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fried's tooth and nail syndrome -MONDO:0011223 MONDO:equivalentTo Orphanet:357043 amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 4 -MONDO:0011224 MONDO:equivalentTo Orphanet:65684 monomelic amyotrophy Monomelic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomelic amyotrophy -MONDO:0011225 MONDO:equivalentTo Orphanet:275 severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to dclre1c deficiency -MONDO:0011227 MONDO:equivalentTo Orphanet:397623 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome -MONDO:0011229 MONDO:equivalentTo Orphanet:51188 ethylmalonic encephalopathy Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ethylmalonic encephalopathy -MONDO:0011235 MONDO:equivalentTo Orphanet:2840 pelvic dysplasia-arthrogryposis of lower limbs syndrome Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic dysplasia-arthrogryposis of lower limbs syndrome -MONDO:0011239 MONDO:equivalentTo Orphanet:468672 colobomatous macrophthalmia-microcornea syndrome Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous macrophthalmia-microcornea syndrome -MONDO:0011240 MONDO:equivalentTo Orphanet:60040 megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-capillary malformation-polymicrogyria syndrome -MONDO:0011243 MONDO:equivalentTo Orphanet:79094 grange syndrome Grange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grange syndrome -MONDO:0011244 MONDO:equivalentTo Orphanet:561 Marshall-Smith syndrome Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marshall-smith syndrome -MONDO:0011252 MONDO:equivalentTo Orphanet:93352 spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, shohat type -MONDO:0011253 MONDO:equivalentTo Orphanet:1524 craniomicromelic syndrome Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniomicromelic syndrome -MONDO:0011255 MONDO:equivalentTo Orphanet:357158 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis-macroblepharon-macrostomia syndrome -MONDO:0011273 MONDO:equivalentTo Orphanet:168569 H syndrome H syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label h syndrome -MONDO:0011274 MONDO:equivalentTo Orphanet:53271 Muenke syndrome Muenke syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muenke syndrome -MONDO:0011287 MONDO:equivalentTo Orphanet:85199 craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-anal anomalies-porokeratosis syndrome -MONDO:0011299 MONDO:equivalentTo Orphanet:157941 Huntington disease-like 1 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 1 -MONDO:0011301 MONDO:equivalentTo Orphanet:94089 pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1b -MONDO:0011308 MONDO:equivalentTo Orphanet:53693 GRACILE syndrome GRACILE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gracile syndrome -MONDO:0011309 MONDO:equivalentTo Orphanet:99819 familial gestational hyperthyroidism Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gestational hyperthyroidism -MONDO:0011320 MONDO:equivalentTo Orphanet:3268 radioulnar synostosis-microcephaly-scoliosis syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis-microcephaly-scoliosis syndrome -MONDO:0011327 MONDO:equivalentTo Orphanet:2289 neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disease -MONDO:0011330 MONDO:equivalentTo Orphanet:98761 spinocerebellar ataxia type 10 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 10 -MONDO:0011331 MONDO:equivalentTo Orphanet:264688 congenital chylothorax Congenital chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax -MONDO:0011334 MONDO:equivalentTo Orphanet:69085 limb-mammary syndrome Limb-mammary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-mammary syndrome -MONDO:0011338 MONDO:equivalentTo Orphanet:39041 Omenn syndrome Omenn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omenn syndrome -MONDO:0011340 MONDO:equivalentTo Orphanet:141127 congenital tracheal stenosis Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tracheal stenosis -MONDO:0011346 MONDO:equivalentTo Orphanet:93602 xanthinuria type II Xanthinuria type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthinuria type ii -MONDO:0011348 MONDO:equivalentTo Orphanet:2913 non-syndromic polydactyly Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic polydactyly -MONDO:0011381 MONDO:equivalentTo Orphanet:231226 dominant beta-thalassemia Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dominant beta-thalassemia -MONDO:0011382 MONDO:equivalentTo Orphanet:232 sickle cell anemia Sickle cell anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell anemia -MONDO:0011391 MONDO:equivalentTo Orphanet:2478 megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0011398 MONDO:equivalentTo Orphanet:89843 dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystrophic epidermolysis bullosa pruriginosa -MONDO:0011402 MONDO:equivalentTo Orphanet:48431 congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataracts-facial dysmorphism-neuropathy syndrome -MONDO:0011405 MONDO:equivalentTo Orphanet:221046 poikiloderma with neutropenia Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia -MONDO:0011411 MONDO:equivalentTo Orphanet:314597 Chudley-McCullough syndrome Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chudley-mccullough syndrome -MONDO:0011412 MONDO:equivalentTo Orphanet:85110 familial encephalopathy with neuroserpin inclusion bodies Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial encephalopathy with neuroserpin inclusion bodies -MONDO:0011414 MONDO:equivalentTo Orphanet:708 Peters anomaly Peters anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peters anomaly -MONDO:0011420 MONDO:equivalentTo Orphanet:314802 short stature due to partial GHR deficiency Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to partial ghr deficiency -MONDO:0011422 MONDO:equivalentTo Orphanet:93607 autosomal recessive proximal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive proximal renal tubular acidosis -MONDO:0011424 MONDO:equivalentTo Orphanet:139411 Carney triad Carney triad semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney triad -MONDO:0011426 MONDO:equivalentTo Orphanet:48818 aceruloplasminemia Aceruloplasminemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aceruloplasminemia -MONDO:0011429 MONDO:equivalentTo Orphanet:92 juvenile idiopathic arthritis Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic arthritis -MONDO:0011430 MONDO:equivalentTo Orphanet:98984 pulverulent cataract Pulverulent cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulverulent cataract -MONDO:0011439 MONDO:equivalentTo Orphanet:98762 spinocerebellar ataxia type 12 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 12 -MONDO:0011441 MONDO:equivalentTo Orphanet:99995 complex regional pain syndrome type 1 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome type 1 -MONDO:0011448 MONDO:equivalentTo Orphanet:79083 PPARG-related familial partial lipodystrophy PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pparg-related familial partial lipodystrophy -MONDO:0011449 MONDO:equivalentTo Orphanet:309334 Salla disease Salla disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salla disease -MONDO:0011454 MONDO:equivalentTo Orphanet:228190 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome -MONDO:0011457 MONDO:equivalentTo Orphanet:251347 ataxia-telangiectasia-like disorder Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-telangiectasia-like disorder -MONDO:0011464 MONDO:equivalentTo Orphanet:98767 spinocerebellar ataxia type 11 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 11 -MONDO:0011466 MONDO:equivalentTo Orphanet:603 distal myopathy, Welander type Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy, welander type -MONDO:0011468 MONDO:equivalentTo Orphanet:90117 hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy, okinawa type -MONDO:0011469 MONDO:equivalentTo Orphanet:3319 congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital amegakaryocytic thrombocytopenia -MONDO:0011475 MONDO:equivalentTo Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b2 -MONDO:0011487 MONDO:equivalentTo Orphanet:157946 Huntington disease-like 3 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 3 -MONDO:0011490 MONDO:equivalentTo Orphanet:171700 diffuse panbronchiolitis Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse panbronchiolitis -MONDO:0011493 MONDO:equivalentTo Orphanet:90654 Stickler syndrome type 2 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 -MONDO:0011496 MONDO:equivalentTo Orphanet:93279 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis -MONDO:0011497 MONDO:equivalentTo Orphanet:168583 hereditary North American Indian childhood cirrhosis Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary north american indian childhood cirrhosis -MONDO:0011500 MONDO:equivalentTo Orphanet:64755 Becker nevus syndrome Becker nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label becker nevus syndrome -MONDO:0011501 MONDO:equivalentTo Orphanet:166277 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia -MONDO:0011504 MONDO:equivalentTo Orphanet:443162 NDE1-related microhydranencephaly NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nde1-related microhydranencephaly -MONDO:0011506 MONDO:equivalentTo Orphanet:352582 familial infantile myoclonic epilepsy Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial infantile myoclonic epilepsy -MONDO:0011510 MONDO:equivalentTo Orphanet:97297 Bohring-Opitz syndrome Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bohring-opitz syndrome -MONDO:0011512 MONDO:equivalentTo Orphanet:79493 Brooke-Spiegler syndrome Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brooke-spiegler syndrome -MONDO:0011514 MONDO:equivalentTo Orphanet:1209 tricuspid atresia Tricuspid atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid atresia -MONDO:0011518 MONDO:equivalentTo Orphanet:319182 Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-steiner syndrome -MONDO:0011524 MONDO:equivalentTo Orphanet:275523 Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dianzani autoimmune lymphoproliferative disease -MONDO:0011527 MONDO:equivalentTo Orphanet:99951 Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4e -MONDO:0011528 MONDO:equivalentTo Orphanet:101089 hyper-IgM syndrome type 2 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 2 -MONDO:0011529 MONDO:equivalentTo Orphanet:98768 spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 13 -MONDO:0011530 MONDO:equivalentTo Orphanet:85170 mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia, savarirayan type -MONDO:0011533 MONDO:equivalentTo Orphanet:363417 temtamy preaxial brachydactyly syndrome Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temtamy preaxial brachydactyly syndrome -MONDO:0011534 MONDO:equivalentTo Orphanet:99953 Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4g -MONDO:0011540 MONDO:equivalentTo Orphanet:98763 spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 14 -MONDO:0011555 MONDO:equivalentTo Orphanet:71289 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -MONDO:0011559 MONDO:equivalentTo Orphanet:99961 benign recurrent intrahepatic cholestasis type 2 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis type 2 -MONDO:0011569 MONDO:equivalentTo Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b1 -MONDO:0011570 MONDO:equivalentTo Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b2 -MONDO:0011575 MONDO:equivalentTo Orphanet:66625 cerebrooculonasal syndrome Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculonasal syndrome -MONDO:0011576 MONDO:equivalentTo Orphanet:404 familial hyperaldosteronism type II Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism type ii -MONDO:0011578 MONDO:equivalentTo Orphanet:97290 familial papillary thyroid carcinoma with renal papillary neoplasia Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial papillary thyroid carcinoma with renal papillary neoplasia -MONDO:0011579 MONDO:equivalentTo Orphanet:67042 late-onset retinal degeneration Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset retinal degeneration -MONDO:0011599 MONDO:equivalentTo Orphanet:179 birdshot chorioretinopathy Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label birdshot chorioretinopathy -MONDO:0011601 MONDO:equivalentTo Orphanet:247598 neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal intrahepatic cholestasis due to citrin deficiency -MONDO:0011603 MONDO:equivalentTo Orphanet:602 GNE myopathy GNE myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gne myopathy -MONDO:0011604 MONDO:equivalentTo Orphanet:85194 spondylo-ocular syndrome Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylo-ocular syndrome -MONDO:0011605 MONDO:equivalentTo Orphanet:168632 generalized basaloid follicular hamartoma syndrome Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized basaloid follicular hamartoma syndrome -MONDO:0011610 MONDO:equivalentTo Orphanet:243343 dimethylglycine dehydrogenase deficiency Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dimethylglycine dehydrogenase deficiency -MONDO:0011612 MONDO:equivalentTo Orphanet:407 glycine encephalopathy Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy -MONDO:0011614 MONDO:equivalentTo Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase deficiency -MONDO:0011615 MONDO:equivalentTo Orphanet:391320 East Texas bleeding disorder East Texas bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label east texas bleeding disorder -MONDO:0011620 MONDO:equivalentTo Orphanet:85188 metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysplasia, braun-tinschert type -MONDO:0011621 MONDO:equivalentTo Orphanet:85203 acropectoral syndrome Acropectoral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acropectoral syndrome -MONDO:0011624 MONDO:equivalentTo Orphanet:101028 transaldolase deficiency Transaldolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transaldolase deficiency -MONDO:0011628 MONDO:equivalentTo Orphanet:35 propionic acidemia Propionic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label propionic acidemia -MONDO:0011634 MONDO:equivalentTo Orphanet:97238 rippling muscle disease Rippling muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disease -MONDO:0011638 MONDO:equivalentTo Orphanet:157846 neuroferritinopathy Neuroferritinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroferritinopathy -MONDO:0011640 MONDO:equivalentTo Orphanet:85201 genitopatellar syndrome Genitopatellar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genitopatellar syndrome -MONDO:0011663 MONDO:equivalentTo Orphanet:247604 juvenile primary lateral sclerosis Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile primary lateral sclerosis -MONDO:0011664 MONDO:equivalentTo Orphanet:169100 immunodeficiency due to CD25 deficiency Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to cd25 deficiency -MONDO:0011669 MONDO:equivalentTo Orphanet:163690 hypotonia-cystinuria syndrome Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia-cystinuria syndrome -MONDO:0011671 MONDO:equivalentTo Orphanet:98934 Huntington disease-like 2 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 2 -MONDO:0011672 MONDO:equivalentTo Orphanet:300324 persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent polyclonal b-cell lymphocytosis -MONDO:0011676 MONDO:equivalentTo Orphanet:42775 PHACE syndrome PHACE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phace syndrome -MONDO:0011681 MONDO:equivalentTo Orphanet:79136 episodic ataxia type 4 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 4 -MONDO:0011682 MONDO:equivalentTo Orphanet:79135 episodic ataxia type 3 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 3 -MONDO:0011683 MONDO:equivalentTo Orphanet:79435 oculocutaneous albinism type 4 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 4 -MONDO:0011694 MONDO:equivalentTo Orphanet:98769 spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 15/16 -MONDO:0011705 MONDO:equivalentTo Orphanet:538 lymphangioleiomyomatosis Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis -MONDO:0011706 MONDO:equivalentTo Orphanet:306674 Kufor-Rakeb syndrome Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kufor-rakeb syndrome -MONDO:0011717 MONDO:equivalentTo Orphanet:35878 hyperinsulinism-hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism-hyperammonemia syndrome -MONDO:0011719 MONDO:equivalentTo Orphanet:44890 gastrointestinal stromal tumor Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal stromal tumor -MONDO:0011721 MONDO:equivalentTo Orphanet:178400 distal myopathy with anterior tibial onset Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy with anterior tibial onset -MONDO:0011722 MONDO:equivalentTo Orphanet:397973 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-obesity-prognathism-eye and skin anomalies syndrome -MONDO:0011723 MONDO:equivalentTo Orphanet:141148 hemifacial myohyperplasia Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemifacial myohyperplasia -MONDO:0011725 MONDO:equivalentTo Orphanet:79235 Crigler-Najjar syndrome type 2 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome type 2 -MONDO:0011730 MONDO:equivalentTo Orphanet:24 fumaric aciduria Fumaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fumaric aciduria -MONDO:0011731 MONDO:equivalentTo Orphanet:35710 glucose-galactose malabsorption Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucose-galactose malabsorption -MONDO:0011732 MONDO:equivalentTo Orphanet:85169 familial digital arthropathy-brachydactyly Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly -MONDO:0011735 MONDO:equivalentTo Orphanet:101090 hyper-IgM syndrome type 3 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 3 -MONDO:0011738 MONDO:equivalentTo Orphanet:101070 bilateral frontoparietal polymicrogyria Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontoparietal polymicrogyria -MONDO:0011740 MONDO:equivalentTo Orphanet:97286 Carney-Stratakis syndrome Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney-stratakis syndrome -MONDO:0011744 MONDO:equivalentTo Orphanet:140436 primary intraosseous venous malformation Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intraosseous venous malformation -MONDO:0011749 MONDO:equivalentTo Orphanet:79434 oculocutaneous albinism type 1B Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1b -MONDO:0011758 MONDO:equivalentTo Orphanet:93473 Hurler syndrome Hurler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler syndrome -MONDO:0011759 MONDO:equivalentTo Orphanet:93476 Hurler-Scheie syndrome Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler-scheie syndrome -MONDO:0011760 MONDO:equivalentTo Orphanet:93474 Scheie syndrome Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scheie syndrome -MONDO:0011765 MONDO:equivalentTo Orphanet:93311 multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 5 -MONDO:0011766 MONDO:equivalentTo Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome -MONDO:0011773 MONDO:equivalentTo Orphanet:93347 anauxetic dysplasia Anauxetic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia -MONDO:0011776 MONDO:equivalentTo Orphanet:1451 CINCA syndrome CINCA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cinca syndrome -MONDO:0011778 MONDO:equivalentTo Orphanet:166024 multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, al-gazali type -MONDO:0011781 MONDO:equivalentTo Orphanet:98759 spinocerebellar ataxia type 17 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 -MONDO:0011788 MONDO:equivalentTo Orphanet:93267 cloverleaf skull-multiple congenital anomalies syndrome Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloverleaf skull-multiple congenital anomalies syndrome -MONDO:0011790 MONDO:equivalentTo Orphanet:99742 Amish lethal microcephaly Amish lethal microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amish lethal microcephaly -MONDO:0011795 MONDO:equivalentTo Orphanet:1094 anonychia-microcephaly syndrome Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia-microcephaly syndrome -MONDO:0011797 MONDO:equivalentTo Orphanet:293168 infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset ascending hereditary spastic paralysis -MONDO:0011806 MONDO:equivalentTo Orphanet:488265 osteofibrous dysplasia Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteofibrous dysplasia -MONDO:0011810 MONDO:equivalentTo Orphanet:2744 horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horizontal gaze palsy with progressive scoliosis -MONDO:0011816 MONDO:equivalentTo Orphanet:46059 lathosterolosis Lathosterolosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lathosterolosis -MONDO:0011818 MONDO:equivalentTo Orphanet:268994 isolated focal cortical dysplasia type II Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ii -MONDO:0011819 MONDO:equivalentTo Orphanet:98772 spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 -MONDO:0011823 MONDO:equivalentTo Orphanet:79107 developmental malformations-deafness-dystonia syndrome Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental malformations-deafness-dystonia syndrome -MONDO:0011830 MONDO:equivalentTo Orphanet:95232 lissencephaly due to LIS1 mutation Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly due to lis1 mutation -MONDO:0011833 MONDO:equivalentTo Orphanet:98773 spinocerebellar ataxia type 21 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 21 -MONDO:0011834 MONDO:equivalentTo Orphanet:98771 spinocerebellar ataxia type 18 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 18 -MONDO:0011838 MONDO:equivalentTo Orphanet:85128 Bothnia retinal dystrophy Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bothnia retinal dystrophy -MONDO:0011855 MONDO:equivalentTo Orphanet:98963 granular corneal dystrophy type II Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granular corneal dystrophy type ii -MONDO:0011856 MONDO:equivalentTo Orphanet:168552 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -MONDO:0011870 MONDO:equivalentTo Orphanet:281139 annular epidermolytic ichthyosis Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular epidermolytic ichthyosis -MONDO:0011872 MONDO:equivalentTo Orphanet:79477 Griscelli syndrome type 2 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 2 -MONDO:0011874 MONDO:equivalentTo Orphanet:59303 neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal ichthyosis-sclerosing cholangitis syndrome -MONDO:0011876 MONDO:equivalentTo Orphanet:1941 juvenile absence epilepsy Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile absence epilepsy -MONDO:0011882 MONDO:equivalentTo Orphanet:293165 skin fragility-woolly hair-palmoplantar keratoderma syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin fragility-woolly hair-palmoplantar keratoderma syndrome -MONDO:0011884 MONDO:equivalentTo Orphanet:307936 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome -MONDO:0011885 MONDO:equivalentTo Orphanet:91500 tubulointerstitial nephritis and uveitis syndrome Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulointerstitial nephritis and uveitis syndrome -MONDO:0011890 MONDO:equivalentTo Orphanet:101084 Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1d -MONDO:0011895 MONDO:equivalentTo Orphanet:3260 idiopathic hypereosinophilic syndrome Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypereosinophilic syndrome -MONDO:0011899 MONDO:equivalentTo Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair -MONDO:0011902 MONDO:equivalentTo Orphanet:101085 Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1f -MONDO:0011907 MONDO:equivalentTo Orphanet:63446 acrocapitofemoral dysplasia Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocapitofemoral dysplasia -MONDO:0011908 MONDO:equivalentTo Orphanet:86834 juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myelomonocytic leukemia -MONDO:0011911 MONDO:equivalentTo Orphanet:50814 craniolenticulosutural dysplasia Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniolenticulosutural dysplasia -MONDO:0011927 MONDO:equivalentTo Orphanet:1063 tufted angioma Tufted angioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tufted angioma -MONDO:0011928 MONDO:equivalentTo Orphanet:1756 caudal duplication Caudal duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal duplication -MONDO:0011934 MONDO:equivalentTo Orphanet:31112 dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatofibrosarcoma protuberans -MONDO:0011936 MONDO:equivalentTo Orphanet:139471 microphthalmia with brain and digit anomalies Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia with brain and digit anomalies -MONDO:0011946 MONDO:equivalentTo Orphanet:66637 diaphanospondylodysostosis Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphanospondylodysostosis -MONDO:0011948 MONDO:equivalentTo Orphanet:97249 pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 3 -MONDO:0011950 MONDO:equivalentTo Orphanet:284332 infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset autosomal recessive nonprogressive cerebellar ataxia -MONDO:0011953 MONDO:equivalentTo Orphanet:88619 familial acute necrotizing encephalopathy Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial acute necrotizing encephalopathy -MONDO:0011957 MONDO:equivalentTo Orphanet:319640 retinal macular dystrophy type 2 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal macular dystrophy type 2 -MONDO:0011959 MONDO:equivalentTo Orphanet:3243 sweet syndrome Sweet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sweet syndrome -MONDO:0011961 MONDO:equivalentTo Orphanet:139564 hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 1b -MONDO:0011970 MONDO:equivalentTo Orphanet:163727 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome -MONDO:0011971 MONDO:equivalentTo Orphanet:101092 hyper-IgM syndrome type 5 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 5 -MONDO:0011972 MONDO:equivalentTo Orphanet:64739 ovarian hyperstimulation syndrome Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian hyperstimulation syndrome -MONDO:0011976 MONDO:equivalentTo Orphanet:50811 lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipodystrophy-intellectual disability-deafness syndrome -MONDO:0011977 MONDO:equivalentTo Orphanet:178303 8q22.1 microdeletion syndrome 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q22.1 microdeletion syndrome -MONDO:0011979 MONDO:equivalentTo Orphanet:99000 adult-onset foveomacular vitelliform dystrophy Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset foveomacular vitelliform dystrophy -MONDO:0011984 MONDO:equivalentTo Orphanet:295197 synpolydactyly type 2 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 2 -MONDO:0011985 MONDO:equivalentTo Orphanet:101091 hyper-IgM syndrome type 4 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 4 -MONDO:0011986 MONDO:equivalentTo Orphanet:103918 tropical pancreatitis Tropical pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical pancreatitis -MONDO:0011988 MONDO:equivalentTo Orphanet:183707 neutrophil immunodeficiency syndrome Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutrophil immunodeficiency syndrome -MONDO:0011989 MONDO:equivalentTo Orphanet:507 leishmaniasis Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis -MONDO:0011998 MONDO:equivalentTo Orphanet:140481 autosomal dominant slowed nerve conduction velocity Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant slowed nerve conduction velocity -MONDO:0012008 MONDO:equivalentTo Orphanet:140936 Lelis syndrome Lelis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lelis syndrome -MONDO:0012019 MONDO:equivalentTo Orphanet:93283 spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, kimberley type -MONDO:0012032 MONDO:equivalentTo Orphanet:52047 Braddock syndrome Braddock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label braddock syndrome -MONDO:0012033 MONDO:equivalentTo Orphanet:75374 bradyopsia Bradyopsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bradyopsia -MONDO:0012035 MONDO:equivalentTo Orphanet:52054 craniosynostosis-intracranial calcifications syndrome Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-intracranial calcifications syndrome -MONDO:0012055 MONDO:equivalentTo Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen-like osseous dysplasia-short stature syndrome -MONDO:0012061 MONDO:equivalentTo Orphanet:166282 familial sick sinus syndrome Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial sick sinus syndrome -MONDO:0012063 MONDO:equivalentTo Orphanet:52056 ulnar/fibula ray defect-brachydactyly syndrome Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar/fibula ray defect-brachydactyly syndrome -MONDO:0012073 MONDO:equivalentTo Orphanet:440706 ribose-5-P isomerase deficiency Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ribose-5-p isomerase deficiency -MONDO:0012074 MONDO:equivalentTo Orphanet:90154 mandibuloacral dysplasia with type B lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia with type b lipodystrophy -MONDO:0012075 MONDO:equivalentTo Orphanet:300576 oligodontia-cancer predisposition syndrome Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodontia-cancer predisposition syndrome -MONDO:0012081 MONDO:equivalentTo Orphanet:238446 15q11q13 microduplication syndrome 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q11q13 microduplication syndrome -MONDO:0012084 MONDO:equivalentTo Orphanet:35708 aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatic l-amino acid decarboxylase deficiency -MONDO:0012092 MONDO:equivalentTo Orphanet:64752 hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 5 -MONDO:0012095 MONDO:equivalentTo Orphanet:364577 intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-brachydactyly-pierre robin syndrome -MONDO:0012098 MONDO:equivalentTo Orphanet:101110 spinocerebellar ataxia type 20 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 20 -MONDO:0012099 MONDO:equivalentTo Orphanet:250977 AICA-ribosiduria AICA-ribosiduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aica-ribosiduria -MONDO:0012103 MONDO:equivalentTo Orphanet:101111 spinocerebellar ataxia type 25 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 25 -MONDO:0012104 MONDO:equivalentTo Orphanet:79087 acquired partial lipodystrophy Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired partial lipodystrophy -MONDO:0012105 MONDO:equivalentTo Orphanet:900 granulomatosis with polyangiitis Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis -MONDO:0012108 MONDO:equivalentTo Orphanet:156728 spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, matrilin-3 type -MONDO:0012110 MONDO:equivalentTo Orphanet:73272 growth delay due to insulin-like growth factor type 1 deficiency Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay due to insulin-like growth factor type 1 deficiency -MONDO:0012116 MONDO:equivalentTo Orphanet:98760 spinocerebellar ataxia type 8 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 8 -MONDO:0012120 MONDO:equivalentTo Orphanet:79246 pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase phosphatase deficiency -MONDO:0012124 MONDO:equivalentTo Orphanet:168593 sudden infant death-dysgenesis of the testes syndrome Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sudden infant death-dysgenesis of the testes syndrome -MONDO:0012126 MONDO:equivalentTo Orphanet:86820 familial avascular necrosis of femoral head Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial avascular necrosis of femoral head -MONDO:0012136 MONDO:equivalentTo Orphanet:228308 carnitine palmitoyl transferase II deficiency, neonatal form Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, neonatal form -MONDO:0012143 MONDO:equivalentTo Orphanet:168577 hereditary cryohydrocytosis with reduced stomatin Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary cryohydrocytosis with reduced stomatin -MONDO:0012155 MONDO:equivalentTo Orphanet:137914 choanal atresia Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia -MONDO:0012160 MONDO:equivalentTo Orphanet:85167 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0012161 MONDO:equivalentTo Orphanet:169085 susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susceptibility to respiratory infections associated with cd8alpha chain mutation -MONDO:0012164 MONDO:equivalentTo Orphanet:3097 Meacham syndrome Meacham syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meacham syndrome -MONDO:0012165 MONDO:equivalentTo Orphanet:217266 BNAR syndrome BNAR syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bnar syndrome -MONDO:0012172 MONDO:equivalentTo Orphanet:746 mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012173 MONDO:equivalentTo Orphanet:5 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long chain 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012176 MONDO:equivalentTo Orphanet:96170 Emanuel syndrome Emanuel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emanuel syndrome -MONDO:0012177 MONDO:equivalentTo Orphanet:88628 posterior column ataxia-retinitis pigmentosa syndrome Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior column ataxia-retinitis pigmentosa syndrome -MONDO:0012184 MONDO:equivalentTo Orphanet:2670 Pierson syndrome Pierson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierson syndrome -MONDO:0012185 MONDO:equivalentTo Orphanet:168555 spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, a4 type -MONDO:0012191 MONDO:equivalentTo Orphanet:137681 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -MONDO:0012192 MONDO:equivalentTo Orphanet:65288 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome -MONDO:0012195 MONDO:equivalentTo Orphanet:65720 arthrogryposis-severe scoliosis syndrome Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-severe scoliosis syndrome -MONDO:0012197 MONDO:equivalentTo Orphanet:88 idiopathic aplastic anemia Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic aplastic anemia -MONDO:0012203 MONDO:equivalentTo Orphanet:424 familial hyperthyroidism due to mutations in TSH receptor Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperthyroidism due to mutations in tsh receptor -MONDO:0012204 MONDO:equivalentTo Orphanet:90044 familial pseudohyperkalemia Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pseudohyperkalemia -MONDO:0012208 MONDO:equivalentTo Orphanet:281190 congenital reticular ichthyosiform erythroderma Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital reticular ichthyosiform erythroderma -MONDO:0012209 MONDO:equivalentTo Orphanet:50815 branchiogenic deafness syndrome Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiogenic deafness syndrome -MONDO:0012220 MONDO:equivalentTo Orphanet:79478 Griscelli syndrome type 3 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 3 -MONDO:0012221 MONDO:equivalentTo Orphanet:79279 alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 1 -MONDO:0012222 MONDO:equivalentTo Orphanet:79280 alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 2 -MONDO:0012246 MONDO:equivalentTo Orphanet:101112 spinocerebellar ataxia type 26 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 26 -MONDO:0012247 MONDO:equivalentTo Orphanet:98764 spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 27 -MONDO:0012250 MONDO:equivalentTo Orphanet:99954 Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4h -MONDO:0012251 MONDO:equivalentTo Orphanet:171851 MEDNIK syndrome MEDNIK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mednik syndrome -MONDO:0012253 MONDO:equivalentTo Orphanet:166029 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, with severe proximal femoral dysplasia -MONDO:0012254 MONDO:equivalentTo Orphanet:166032 multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, with miniepiphyses -MONDO:0012271 MONDO:equivalentTo Orphanet:157801 mesoaxial synostotic syndactyly with phalangeal reduction Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesoaxial synostotic syndactyly with phalangeal reduction -MONDO:0012276 MONDO:equivalentTo Orphanet:79137 generalized epilepsy-paroxysmal dyskinesia syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized epilepsy-paroxysmal dyskinesia syndrome -MONDO:0012280 MONDO:equivalentTo Orphanet:66629 Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goldberg-shprintzen megacolon syndrome -MONDO:0012290 MONDO:equivalentTo Orphanet:66631 CEDNIK syndrome CEDNIK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cednik syndrome -MONDO:0012301 MONDO:equivalentTo Orphanet:254875 mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, myopathic form -MONDO:0012307 MONDO:equivalentTo Orphanet:168624 familial scaphocephaly syndrome, McGillivray type Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial scaphocephaly syndrome, mcgillivray type -MONDO:0012308 MONDO:equivalentTo Orphanet:220497 Joubert syndrome with renal defect Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with renal defect -MONDO:0012316 MONDO:equivalentTo Orphanet:77297 Majeed syndrome Majeed syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label majeed syndrome -MONDO:0012330 MONDO:equivalentTo Orphanet:50809 talo-patello-scaphoid osteolysis Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label talo-patello-scaphoid osteolysis -MONDO:0012335 MONDO:equivalentTo Orphanet:71526 obesity due to pro-opiomelanocortin deficiency Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to pro-opiomelanocortin deficiency -MONDO:0012342 MONDO:equivalentTo Orphanet:96121 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7q11.23 microduplication syndrome -MONDO:0012345 MONDO:equivalentTo Orphanet:263534 acral peeling skin syndrome Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral peeling skin syndrome -MONDO:0012351 MONDO:equivalentTo Orphanet:295187 zygodactyly type 1 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 -MONDO:0012359 MONDO:equivalentTo Orphanet:231154 combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to partial rag1 deficiency -MONDO:0012381 MONDO:equivalentTo Orphanet:263458 hyperinsulinism due to INSR deficiency Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to insr deficiency -MONDO:0012383 MONDO:equivalentTo Orphanet:75391 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -MONDO:0012387 MONDO:equivalentTo Orphanet:75325 osteosclerosis-ichthyosis-premature ovarian failure syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerosis-ichthyosis-premature ovarian failure syndrome -MONDO:0012392 MONDO:equivalentTo Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-methylbutyryl-coa dehydrogenase deficiency -MONDO:0012393 MONDO:equivalentTo Orphanet:71278 congenital brain dysgenesis due to glutamine synthetase deficiency Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital brain dysgenesis due to glutamine synthetase deficiency -MONDO:0012396 MONDO:equivalentTo Orphanet:165991 exercise-induced hyperinsulinism Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exercise-induced hyperinsulinism -MONDO:0012401 MONDO:equivalentTo Orphanet:101068 congenital stromal corneal dystrophy Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stromal corneal dystrophy -MONDO:0012407 MONDO:equivalentTo Orphanet:79096 pyridoxal phosphate-responsive seizures Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxal phosphate-responsive seizures -MONDO:0012410 MONDO:equivalentTo Orphanet:399086 Finnish upper limb-onset distal myopathy Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label finnish upper limb-onset distal myopathy -MONDO:0012413 MONDO:equivalentTo Orphanet:178364 syndromic microphthalmia type 5 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 -MONDO:0012417 MONDO:equivalentTo Orphanet:168796 heart-hand syndrome, Slovenian type Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome, slovenian type -MONDO:0012423 MONDO:equivalentTo Orphanet:75858 MORM syndrome MORM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morm syndrome -MONDO:0012439 MONDO:equivalentTo Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to a notch2 point mutation -MONDO:0012446 MONDO:equivalentTo Orphanet:168606 seborrhea-like dermatitis with psoriasiform elements Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrhea-like dermatitis with psoriasiform elements -MONDO:0012447 MONDO:equivalentTo Orphanet:295199 synpolydactyly type 3 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 3 -MONDO:0012449 MONDO:equivalentTo Orphanet:101108 spinocerebellar ataxia type 23 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 23 -MONDO:0012450 MONDO:equivalentTo Orphanet:101109 spinocerebellar ataxia type 28 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 28 -MONDO:0012455 MONDO:equivalentTo Orphanet:261494 Kleefstra syndrome Kleefstra syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome -MONDO:0012456 MONDO:equivalentTo Orphanet:83461 congenital primary aphakia Congenital primary aphakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary aphakia -MONDO:0012462 MONDO:equivalentTo Orphanet:329329 autosomal recessive frontotemporal pachygyria Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive frontotemporal pachygyria -MONDO:0012465 MONDO:equivalentTo Orphanet:83639 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency -MONDO:0012475 MONDO:equivalentTo Orphanet:209932 cone dystrophy with supernormal rod response Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone dystrophy with supernormal rod response -MONDO:0012481 MONDO:equivalentTo Orphanet:29 mevalonic aciduria Mevalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonic aciduria -MONDO:0012496 MONDO:equivalentTo Orphanet:96169 Koolen-de Vries syndrome Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label koolen-de vries syndrome -MONDO:0012504 MONDO:equivalentTo Orphanet:85164 camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly-tall stature-scoliosis-hearing loss syndrome -MONDO:0012508 MONDO:equivalentTo Orphanet:83617 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome -MONDO:0012510 MONDO:equivalentTo Orphanet:254920 combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 2 -MONDO:0012512 MONDO:equivalentTo Orphanet:168566 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 -MONDO:0012516 MONDO:equivalentTo Orphanet:79113 mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis-microcephaly syndrome -MONDO:0012519 MONDO:equivalentTo Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to 16p13.3 microdeletion -MONDO:0012520 MONDO:equivalentTo Orphanet:2297 insulin-resistance syndrome type A Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin-resistance syndrome type a -MONDO:0012530 MONDO:equivalentTo Orphanet:85112 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome -MONDO:0012534 MONDO:equivalentTo Orphanet:254925 combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 4 -MONDO:0012541 MONDO:equivalentTo Orphanet:90024 deafness with labyrinthine aplasia, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness with labyrinthine aplasia, microtia, and microdontia -MONDO:0012545 MONDO:equivalentTo Orphanet:98908 neutral lipid storage myopathy Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutral lipid storage myopathy -MONDO:0012548 MONDO:equivalentTo Orphanet:99749 Kostmann syndrome Kostmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kostmann syndrome -MONDO:0012549 MONDO:equivalentTo Orphanet:88644 autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia, beauce type -MONDO:0012552 MONDO:equivalentTo Orphanet:276152 multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 4 -MONDO:0012557 MONDO:equivalentTo Orphanet:91130 cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy-hypotonia-lactic acidosis syndrome -MONDO:0012570 MONDO:equivalentTo Orphanet:91135 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency -MONDO:0012579 MONDO:equivalentTo Orphanet:747 autoimmune pulmonary alveolar proteinosis Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pulmonary alveolar proteinosis -MONDO:0012580 MONDO:equivalentTo Orphanet:264675 hereditary pulmonary alveolar proteinosis Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary pulmonary alveolar proteinosis -MONDO:0012582 MONDO:equivalentTo Orphanet:440402 interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease due to abca3 deficiency -MONDO:0012589 MONDO:equivalentTo Orphanet:2896 Pitt-Hopkins syndrome Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pitt-hopkins syndrome -MONDO:0012591 MONDO:equivalentTo Orphanet:216828 osteogenesis imperfecta type 5 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 5 -MONDO:0012593 MONDO:equivalentTo Orphanet:209905 brain-lung-thyroid syndrome Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain-lung-thyroid syndrome -MONDO:0012621 MONDO:equivalentTo Orphanet:94064 deafness-infertility syndrome Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-infertility syndrome -MONDO:0012622 MONDO:equivalentTo Orphanet:137898 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome -MONDO:0012624 MONDO:equivalentTo Orphanet:99901 acyl-CoA dehydrogenase 9 deficiency Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acyl-coa dehydrogenase 9 deficiency -MONDO:0012638 MONDO:equivalentTo Orphanet:77299 microphthalmia-brain atrophy syndrome Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia-brain atrophy syndrome -MONDO:0012640 MONDO:equivalentTo Orphanet:139515 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4j -MONDO:0012648 MONDO:equivalentTo Orphanet:79159 isobutyryl-CoA dehydrogenase deficiency Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isobutyryl-coa dehydrogenase deficiency -MONDO:0012650 MONDO:equivalentTo Orphanet:169079 Cernunnos-XLF deficiency Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cernunnos-xlf deficiency -MONDO:0012658 MONDO:equivalentTo Orphanet:140908 brachydactyly type B2 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b2 -MONDO:0012669 MONDO:equivalentTo Orphanet:137605 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome -MONDO:0012675 MONDO:equivalentTo Orphanet:199247 corticosteroid-binding globulin deficiency Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticosteroid-binding globulin deficiency -MONDO:0012683 MONDO:equivalentTo Orphanet:166073 pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 6 -MONDO:0012693 MONDO:equivalentTo Orphanet:137625 glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to muscle and heart glycogen synthase deficiency -MONDO:0012703 MONDO:equivalentTo Orphanet:171680 lissencephaly due to TUBA1A mutation Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly due to tuba1a mutation -MONDO:0012714 MONDO:equivalentTo Orphanet:289377 early-onset myopathy with fatal cardiomyopathy Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset myopathy with fatal cardiomyopathy -MONDO:0012718 MONDO:equivalentTo Orphanet:137908 hypotonia with lactic acidemia and hyperammonemia Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia with lactic acidemia and hyperammonemia -MONDO:0012721 MONDO:equivalentTo Orphanet:263516 progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 3 -MONDO:0012725 MONDO:equivalentTo Orphanet:329481 lipoprotein glomerulopathy Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoprotein glomerulopathy -MONDO:0012733 MONDO:equivalentTo Orphanet:139455 autosomal recessive bestrophinopathy Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive bestrophinopathy -MONDO:0012734 MONDO:equivalentTo Orphanet:139466 SERKAL syndrome SERKAL syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serkal syndrome -MONDO:0012735 MONDO:equivalentTo Orphanet:420561 Temple-Baraitser syndrome Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temple-baraitser syndrome -MONDO:0012739 MONDO:equivalentTo Orphanet:139450 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome -MONDO:0012747 MONDO:equivalentTo Orphanet:57 glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to aldolase a deficiency -MONDO:0012755 MONDO:equivalentTo Orphanet:209970 episodic ataxia type 7 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 7 -MONDO:0012756 MONDO:equivalentTo Orphanet:261197 proximal 16p11.2 microdeletion syndrome Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal 16p11.2 microdeletion syndrome -MONDO:0012757 MONDO:equivalentTo Orphanet:137631 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome -MONDO:0012759 MONDO:equivalentTo Orphanet:488434 camptodactyly syndrome, Guadalajara type 3 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 3 -MONDO:0012764 MONDO:equivalentTo Orphanet:420741 RIDDLE syndrome RIDDLE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label riddle syndrome -MONDO:0012784 MONDO:equivalentTo Orphanet:139485 autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to ubiquinone deficiency -MONDO:0012786 MONDO:equivalentTo Orphanet:247794 juvenile cataract-microcornea-renal glucosuria syndrome Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile cataract-microcornea-renal glucosuria syndrome -MONDO:0012789 MONDO:equivalentTo Orphanet:210571 dystonia 16 Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia 16 -MONDO:0012791 MONDO:equivalentTo Orphanet:1933 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria -MONDO:0012794 MONDO:equivalentTo Orphanet:157954 ANE syndrome ANE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ane syndrome -MONDO:0012815 MONDO:equivalentTo Orphanet:313838 Coats plus syndrome Coats plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coats plus syndrome -MONDO:0012825 MONDO:equivalentTo Orphanet:209916 extraskeletal myxoid chondrosarcoma Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraskeletal myxoid chondrosarcoma -MONDO:0012833 MONDO:equivalentTo Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crouzon syndrome-acanthosis nigricans syndrome -MONDO:0012854 MONDO:equivalentTo Orphanet:140963 bilateral microtia-deafness-cleft palate syndrome Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral microtia-deafness-cleft palate syndrome -MONDO:0012858 MONDO:equivalentTo Orphanet:169464 primary CD59 deficiency Primary CD59 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cd59 deficiency -MONDO:0012883 MONDO:equivalentTo Orphanet:520 acute promyelocytic leukemia Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute promyelocytic leukemia -MONDO:0012897 MONDO:equivalentTo Orphanet:329 congenital factor XI deficiency Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xi deficiency -MONDO:0012911 MONDO:equivalentTo Orphanet:79444 pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1c -MONDO:0012912 MONDO:equivalentTo Orphanet:79445 pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudopseudohypoparathyroidism -MONDO:0012930 MONDO:equivalentTo Orphanet:331176 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0012967 MONDO:equivalentTo Orphanet:86817 hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to adenylate kinase deficiency -MONDO:0012980 MONDO:equivalentTo Orphanet:199332 endocrine-cerebro-osteodysplasia syndrome Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocrine-cerebro-osteodysplasia syndrome -MONDO:0012982 MONDO:equivalentTo Orphanet:209967 episodic ataxia type 6 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 6 -MONDO:0012986 MONDO:equivalentTo Orphanet:208441 bilateral parasagittal parieto-occipital polymicrogyria Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral parasagittal parieto-occipital polymicrogyria -MONDO:0012992 MONDO:equivalentTo Orphanet:199337 pancreatic insufficiency-anemia-hyperostosis syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic insufficiency-anemia-hyperostosis syndrome -MONDO:0012994 MONDO:equivalentTo Orphanet:70594 dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dopa-responsive dystonia due to sepiapterin reductase deficiency -MONDO:0012997 MONDO:equivalentTo Orphanet:1415 cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis-pigmentary retinopathy-cleft palate syndrome -MONDO:0012999 MONDO:equivalentTo Orphanet:382 guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guanidinoacetate methyltransferase deficiency -MONDO:0013000 MONDO:equivalentTo Orphanet:100924 porphyria due to ALA dehydratase deficiency Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria due to ala dehydratase deficiency -MONDO:0013003 MONDO:equivalentTo Orphanet:141152 isolated congenital hypoglossia/aglossia Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypoglossia/aglossia -MONDO:0013005 MONDO:equivalentTo Orphanet:199343 EAST syndrome EAST syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label east syndrome -MONDO:0013006 MONDO:equivalentTo Orphanet:231671 isolated growth hormone deficiency type IB Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ib -MONDO:0013007 MONDO:equivalentTo Orphanet:317428 combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to orai1 deficiency -MONDO:0013008 MONDO:equivalentTo Orphanet:317430 combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to stim1 deficiency -MONDO:0013014 MONDO:equivalentTo Orphanet:171866 spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, aggrecan type -MONDO:0013021 MONDO:equivalentTo Orphanet:210115 sterile multifocal osteomyelitis with periostitis and pustulosis Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterile multifocal osteomyelitis with periostitis and pustulosis -MONDO:0013024 MONDO:equivalentTo Orphanet:70591 chronic thromboembolic pulmonary hypertension Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic thromboembolic pulmonary hypertension -MONDO:0013026 MONDO:equivalentTo Orphanet:98959 subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subepithelial mucinous corneal dystrophy -MONDO:0013027 MONDO:equivalentTo Orphanet:98971 posterior amorphous corneal dystrophy Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior amorphous corneal dystrophy -MONDO:0013028 MONDO:equivalentTo Orphanet:45 adenosine monophosphate deaminase deficiency Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenosine monophosphate deaminase deficiency -MONDO:0013036 MONDO:equivalentTo Orphanet:217017 Zechi-Ceide syndrome Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zechi-ceide syndrome -MONDO:0013038 MONDO:equivalentTo Orphanet:140944 CLOVES syndrome CLOVES syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloves syndrome -MONDO:0013046 MONDO:equivalentTo Orphanet:99849 glycogen storage disease due to muscle beta-enolase deficiency Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to muscle beta-enolase deficiency -MONDO:0013047 MONDO:equivalentTo Orphanet:284426 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase m-subunit deficiency -MONDO:0013050 MONDO:equivalentTo Orphanet:210144 lethal polymalformative syndrome, Boissel type Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal polymalformative syndrome, boissel type -MONDO:0013051 MONDO:equivalentTo Orphanet:357064 autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2b -MONDO:0013053 MONDO:equivalentTo Orphanet:217026 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type -MONDO:0013058 MONDO:equivalentTo Orphanet:85136 cystic leukoencephalopathy without megalencephaly Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic leukoencephalopathy without megalencephaly -MONDO:0013069 MONDO:equivalentTo Orphanet:227976 autosomal recessive optic atrophy, OPA7 type Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive optic atrophy, opa7 type -MONDO:0013074 MONDO:equivalentTo Orphanet:2396 encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalocraniocutaneous lipomatosis -MONDO:0013082 MONDO:equivalentTo Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-ganglioneuroblastoma syndrome -MONDO:0013110 MONDO:equivalentTo Orphanet:217382 neurodegenerative syndrome due to cerebral folate transport deficiency Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegenerative syndrome due to cerebral folate transport deficiency -MONDO:0013111 MONDO:equivalentTo Orphanet:217371 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute infantile liver failure due to synthesis defect of mtdna-encoded proteins -MONDO:0013115 MONDO:equivalentTo Orphanet:217335 RIN2 syndrome RIN2 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rin2 syndrome -MONDO:0013116 MONDO:equivalentTo Orphanet:330054 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome -MONDO:0013118 MONDO:equivalentTo Orphanet:240760 Nijmegen breakage syndrome-like disorder Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nijmegen breakage syndrome-like disorder -MONDO:0013125 MONDO:equivalentTo Orphanet:168984 CLAPO syndrome CLAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clapo syndrome -MONDO:0013136 MONDO:equivalentTo Orphanet:217407 hereditary hypotrichosis with recurrent skin vesicles Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypotrichosis with recurrent skin vesicles -MONDO:0013143 MONDO:equivalentTo Orphanet:217467 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency -MONDO:0013164 MONDO:equivalentTo Orphanet:65287 beta-ureidopropionase deficiency Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-ureidopropionase deficiency -MONDO:0013170 MONDO:equivalentTo Orphanet:221145 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies -MONDO:0013171 MONDO:equivalentTo Orphanet:760 purine nucleoside phosphorylase deficiency Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency -MONDO:0013172 MONDO:equivalentTo Orphanet:250972 polymicrogyria with optic nerve hypoplasia Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria with optic nerve hypoplasia -MONDO:0013178 MONDO:equivalentTo Orphanet:157973 congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy due to lmna mutation -MONDO:0013227 MONDO:equivalentTo Orphanet:465 congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital plasminogen activator inhibitor type 1 deficiency -MONDO:0013228 MONDO:equivalentTo Orphanet:228387 spondylo-megaepiphyseal-metaphyseal dysplasia Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylo-megaepiphyseal-metaphyseal dysplasia -MONDO:0013229 MONDO:equivalentTo Orphanet:166412 hot water reflex epilepsy Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hot water reflex epilepsy -MONDO:0013232 MONDO:equivalentTo Orphanet:2619 brachydactylous dwarfism, Mseleni type Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactylous dwarfism, mseleni type -MONDO:0013233 MONDO:equivalentTo Orphanet:99642 spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, handigodu type -MONDO:0013241 MONDO:equivalentTo Orphanet:211017 spinocerebellar ataxia type 30 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 30 -MONDO:0013245 MONDO:equivalentTo Orphanet:228426 syndromic multisystem autoimmune disease due to ITCH deficiency Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic multisystem autoimmune disease due to itch deficiency -MONDO:0013252 MONDO:equivalentTo Orphanet:280558 Warsaw breakage syndrome Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome -MONDO:0013267 MONDO:equivalentTo Orphanet:261222 distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 16p11.2 microdeletion syndrome -MONDO:0013275 MONDO:equivalentTo Orphanet:712 hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to glucophosphate isomerase deficiency -MONDO:0013276 MONDO:equivalentTo Orphanet:779 Reynolds syndrome Reynolds syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reynolds syndrome -MONDO:0013301 MONDO:equivalentTo Orphanet:91 aromatase deficiency Aromatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatase deficiency -MONDO:0013306 MONDO:equivalentTo Orphanet:254930 combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 7 -MONDO:0013310 MONDO:equivalentTo Orphanet:95699 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency -MONDO:0013316 MONDO:equivalentTo Orphanet:247834 occult macular dystrophy Occult macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occult macular dystrophy -MONDO:0013317 MONDO:equivalentTo Orphanet:51084 torsade-de-pointes syndrome with short coupling interval Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsade-de-pointes syndrome with short coupling interval -MONDO:0013324 MONDO:equivalentTo Orphanet:99141 lymphedema-posterior choanal atresia syndrome Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-posterior choanal atresia syndrome -MONDO:0013327 MONDO:equivalentTo Orphanet:93600 primary hyperoxaluria type 3 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 3 -MONDO:0013329 MONDO:equivalentTo Orphanet:238578 familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to 17q23.1q23.2 microduplication -MONDO:0013351 MONDO:equivalentTo Orphanet:402364 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly -MONDO:0013352 MONDO:equivalentTo Orphanet:391372 intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-severe speech delay-mild dysmorphism syndrome -MONDO:0013359 MONDO:equivalentTo Orphanet:251274 familial hyperaldosteronism type III Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism type iii -MONDO:0013360 MONDO:equivalentTo Orphanet:93302 brachyolmia, Maroteaux type Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia, maroteaux type -MONDO:0013362 MONDO:equivalentTo Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome -MONDO:0013364 MONDO:equivalentTo Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to ep300 haploinsufficiency -MONDO:0013368 MONDO:equivalentTo Orphanet:238744 mammary-digital-nail syndrome Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mammary-digital-nail syndrome -MONDO:0013393 MONDO:equivalentTo Orphanet:254351 distal 7q11.23 microdeletion syndrome Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 7q11.23 microdeletion syndrome -MONDO:0013394 MONDO:equivalentTo Orphanet:306547 porencephaly-microcephaly-bilateral congenital cataract syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly-microcephaly-bilateral congenital cataract syndrome -MONDO:0013408 MONDO:equivalentTo Orphanet:306550 FADD-related immunodeficiency FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fadd-related immunodeficiency -MONDO:0013417 MONDO:equivalentTo Orphanet:280133 complement component 3 deficiency Complement component 3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complement component 3 deficiency -MONDO:0013423 MONDO:equivalentTo Orphanet:331187 immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to masp-2 deficiency -MONDO:0013426 MONDO:equivalentTo Orphanet:284984 aneurysm-osteoarthritis syndrome Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysm-osteoarthritis syndrome -MONDO:0013433 MONDO:equivalentTo Orphanet:171 primary sclerosing cholangitis Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis -MONDO:0013452 MONDO:equivalentTo Orphanet:404463 multisystemic smooth muscle dysfunction syndrome Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multisystemic smooth muscle dysfunction syndrome -MONDO:0013456 MONDO:equivalentTo Orphanet:319651 constitutional megaloblastic anemia with severe neurologic disease Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constitutional megaloblastic anemia with severe neurologic disease -MONDO:0013458 MONDO:equivalentTo Orphanet:363694 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome -MONDO:0013464 MONDO:equivalentTo Orphanet:211067 episodic ataxia type 5 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 5 -MONDO:0013467 MONDO:equivalentTo Orphanet:331190 immunodeficiency due to ficolin3 deficiency Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to ficolin3 deficiency -MONDO:0013472 MONDO:equivalentTo Orphanet:280553 fatal infantile hypertonic myofibrillar myopathy Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal infantile hypertonic myofibrillar myopathy -MONDO:0013478 MONDO:equivalentTo Orphanet:280356 PLIN1-related familial partial lipodystrophy PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plin1-related familial partial lipodystrophy -MONDO:0013485 MONDO:equivalentTo Orphanet:276193 spinocerebellar ataxia type 35 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 35 -MONDO:0013486 MONDO:equivalentTo Orphanet:276183 spinocerebellar ataxia type 32 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 32 -MONDO:0013487 MONDO:equivalentTo Orphanet:169467 recurrent Neisseria infections due to factor D deficiency Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent neisseria infections due to factor d deficiency -MONDO:0013512 MONDO:equivalentTo Orphanet:93616 hemoglobin H disease Hemoglobin H disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin h disease -MONDO:0013523 MONDO:equivalentTo Orphanet:280576 Nestor-Guillermo progeria syndrome Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nestor-guillermo progeria syndrome -MONDO:0013524 MONDO:equivalentTo Orphanet:220443 bleeding diathesis due to thromboxane synthesis deficiency Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bleeding diathesis due to thromboxane synthesis deficiency -MONDO:0013526 MONDO:equivalentTo Orphanet:280620 progressive myoclonic epilepsy type 6 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 6 -MONDO:0013539 MONDO:equivalentTo Orphanet:79507 hypotonia-failure to thrive-microcephaly syndrome Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia-failure to thrive-microcephaly syndrome -MONDO:0013540 MONDO:equivalentTo Orphanet:3226 deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-lymphedema-leukemia syndrome -MONDO:0013550 MONDO:equivalentTo Orphanet:63273 distal myopathy with posterior leg and anterior hand involvement Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy with posterior leg and anterior hand involvement -MONDO:0013561 MONDO:equivalentTo Orphanet:280586 chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia with joint dislocations, gpapp type -MONDO:0013570 MONDO:equivalentTo Orphanet:319504 combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 8 -MONDO:0013572 MONDO:equivalentTo Orphanet:435628 Keppen-Lubinsky syndrome Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keppen-lubinsky syndrome -MONDO:0013576 MONDO:equivalentTo Orphanet:183675 recurrent infections associated with rare immunoglobulin isotypes deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent infections associated with rare immunoglobulin isotypes deficiency -MONDO:0013578 MONDO:equivalentTo Orphanet:464306 DYRK1A-related intellectual disability syndrome DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyrk1a-related intellectual disability syndrome -MONDO:0013580 MONDO:equivalentTo Orphanet:255138 pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e1-beta deficiency -MONDO:0013583 MONDO:equivalentTo Orphanet:280640 occipital pachygyria and polymicrogyria Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital pachygyria and polymicrogyria -MONDO:0013584 MONDO:equivalentTo Orphanet:456318 hereditary sensory neuropathy-deafness-dementia syndrome Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory neuropathy-deafness-dementia syndrome -MONDO:0013587 MONDO:equivalentTo Orphanet:284435 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase h-subunit deficiency -MONDO:0013594 MONDO:equivalentTo Orphanet:276198 spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 36 -MONDO:0013595 MONDO:equivalentTo Orphanet:276405 hyperbiliverdinemia Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbiliverdinemia -MONDO:0013607 MONDO:equivalentTo Orphanet:228423 monocytopenia with susceptibility to infections Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytopenia with susceptibility to infections -MONDO:0013614 MONDO:equivalentTo Orphanet:293958 hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertelorism-preauricular sinus-punctual pits-deafness syndrome -MONDO:0013640 MONDO:equivalentTo Orphanet:284247 familial retinal arterial macroaneurysm Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial retinal arterial macroaneurysm -MONDO:0013648 MONDO:equivalentTo Orphanet:79146 familial progressive hyperpigmentation Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive hyperpigmentation -MONDO:0013659 MONDO:equivalentTo Orphanet:294016 microcephaly-capillary malformation syndrome Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-capillary malformation syndrome -MONDO:0013661 MONDO:equivalentTo Orphanet:289504 combined malonic and methylmalonic acidemia Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined malonic and methylmalonic acidemia -MONDO:0013668 MONDO:equivalentTo Orphanet:3307 tetrasomy 18p Tetrasomy 18p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 18p -MONDO:0013673 MONDO:equivalentTo Orphanet:411590 Wolfram-like syndrome Wolfram-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolfram-like syndrome -MONDO:0013678 MONDO:equivalentTo Orphanet:293936 EDICT syndrome EDICT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label edict syndrome -MONDO:0013686 MONDO:equivalentTo Orphanet:488650 distal myopathy, Tateyama type Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy, tateyama type -MONDO:0013688 MONDO:equivalentTo Orphanet:79150 linear and whorled nevoid hypermelanosis Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear and whorled nevoid hypermelanosis -MONDO:0013691 MONDO:equivalentTo Orphanet:391646 Feingold syndrome type 2 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome type 2 -MONDO:0013692 MONDO:equivalentTo Orphanet:289539 BAP1-related tumor predisposition syndrome BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bap1-related tumor predisposition syndrome -MONDO:0013700 MONDO:equivalentTo Orphanet:309031 pancreatic triacylglycerol lipase deficiency Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic triacylglycerol lipase deficiency -MONDO:0013711 MONDO:equivalentTo Orphanet:397744 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome -MONDO:0013730 MONDO:equivalentTo Orphanet:39812 graft versus host disease Graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label graft versus host disease -MONDO:0013735 MONDO:equivalentTo Orphanet:329332 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome -MONDO:0013740 MONDO:equivalentTo Orphanet:293925 lethal occipital encephalocele-skeletal dysplasia syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal occipital encephalocele-skeletal dysplasia syndrome -MONDO:0013755 MONDO:equivalentTo Orphanet:293633 PYCR1-related de Barsy syndrome PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycr1-related de barsy syndrome -MONDO:0013760 MONDO:equivalentTo Orphanet:352333 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome -MONDO:0013761 MONDO:equivalentTo Orphanet:293955 childhood encephalopathy due to thiamine pyrophosphokinase deficiency Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood encephalopathy due to thiamine pyrophosphokinase deficiency -MONDO:0013762 MONDO:equivalentTo Orphanet:401859 lipoic acid synthetase deficiency Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoic acid synthetase deficiency -MONDO:0013771 MONDO:equivalentTo Orphanet:300293 transient infantile hypertriglyceridemia and hepatosteatosis Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient infantile hypertriglyceridemia and hepatosteatosis -MONDO:0013772 MONDO:equivalentTo Orphanet:300313 congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-hearing loss-severe developmental delay syndrome -MONDO:0013775 MONDO:equivalentTo Orphanet:436169 thrombomodulin-related bleeding disorder Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombomodulin-related bleeding disorder -MONDO:0013777 MONDO:equivalentTo Orphanet:88939 pseudohypoaldosteronism type 2B Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2b -MONDO:0013778 MONDO:equivalentTo Orphanet:88940 pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2c -MONDO:0013781 MONDO:equivalentTo Orphanet:300525 pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2d -MONDO:0013782 MONDO:equivalentTo Orphanet:300530 pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2e -MONDO:0013802 MONDO:equivalentTo Orphanet:313850 infantile cerebellar-retinal degeneration Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile cerebellar-retinal degeneration -MONDO:0013803 MONDO:equivalentTo Orphanet:542310 leukoencephalopathy with calcifications and cysts Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with calcifications and cysts -MONDO:0013808 MONDO:equivalentTo Orphanet:163634 Maffucci syndrome Maffucci syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maffucci syndrome -MONDO:0013811 MONDO:equivalentTo Orphanet:319509 combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 9 -MONDO:0013836 MONDO:equivalentTo Orphanet:280406 familial steroid-resistant nephrotic syndrome with sensorineural deafness Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial steroid-resistant nephrotic syndrome with sensorineural deafness -MONDO:0013837 MONDO:equivalentTo Orphanet:254898 deafness-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-encephaloneuropathy-obesity-valvulopathy syndrome -MONDO:0013839 MONDO:equivalentTo Orphanet:314381 hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 6 -MONDO:0013840 MONDO:equivalentTo Orphanet:319678 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome -MONDO:0013843 MONDO:equivalentTo Orphanet:314376 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency -MONDO:0013851 MONDO:equivalentTo Orphanet:314399 autosomal dominant aplasia and myelodysplasia Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant aplasia and myelodysplasia -MONDO:0013858 MONDO:equivalentTo Orphanet:269229 pontine tegmental cap dysplasia Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontine tegmental cap dysplasia -MONDO:0013863 MONDO:equivalentTo Orphanet:445018 combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to lrba deficiency -MONDO:0013865 MONDO:equivalentTo Orphanet:314637 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency -MONDO:0013869 MONDO:equivalentTo Orphanet:976 adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenine phosphoribosyltransferase deficiency -MONDO:0013873 MONDO:equivalentTo Orphanet:85173 IMAGe syndrome IMAGe syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label image syndrome -MONDO:0013877 MONDO:equivalentTo Orphanet:447784 mitochondrial pyruvate carrier deficiency Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial pyruvate carrier deficiency -MONDO:0013885 MONDO:equivalentTo Orphanet:420179 Malan overgrowth syndrome Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malan overgrowth syndrome -MONDO:0013890 MONDO:equivalentTo Orphanet:319160 congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with internal nuclei and atypical cores -MONDO:0013892 MONDO:equivalentTo Orphanet:329931 C3 glomerulonephritis C3 glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c3 glomerulonephritis -MONDO:0013894 MONDO:equivalentTo Orphanet:314394 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome -MONDO:0013898 MONDO:equivalentTo Orphanet:401996 karyomegalic interstitial nephritis Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis -MONDO:0013907 MONDO:equivalentTo Orphanet:208447 bilateral generalized polymicrogyria Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral generalized polymicrogyria -MONDO:0013925 MONDO:equivalentTo Orphanet:369955 methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia with homocystinuria, type cblj -MONDO:0013934 MONDO:equivalentTo Orphanet:314689 combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to stk4 deficiency -MONDO:0013941 MONDO:equivalentTo Orphanet:99646 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria -MONDO:0013944 MONDO:equivalentTo Orphanet:324530 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammation-plcg2-associated antibody deficiency-immune dysregulation -MONDO:0013954 MONDO:equivalentTo Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency -MONDO:0013955 MONDO:equivalentTo Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency -MONDO:0013956 MONDO:equivalentTo Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency -MONDO:0013957 MONDO:equivalentTo Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency -MONDO:0013959 MONDO:equivalentTo Orphanet:99952 Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4f -MONDO:0013960 MONDO:equivalentTo Orphanet:324321 sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinoatrial node dysfunction and deafness -MONDO:0013969 MONDO:equivalentTo Orphanet:324535 combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 11 -MONDO:0013971 MONDO:equivalentTo Orphanet:314051 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome -MONDO:0013977 MONDO:equivalentTo Orphanet:319514 combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 13 -MONDO:0013986 MONDO:equivalentTo Orphanet:319519 combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 14 -MONDO:0013987 MONDO:equivalentTo Orphanet:319524 combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 15 -MONDO:0013990 MONDO:equivalentTo Orphanet:324569 pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 8 -MONDO:0013991 MONDO:equivalentTo Orphanet:66628 obesity due to congenital leptin deficiency Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to congenital leptin deficiency -MONDO:0013992 MONDO:equivalentTo Orphanet:179494 obesity due to leptin receptor gene deficiency Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to leptin receptor gene deficiency -MONDO:0013993 MONDO:equivalentTo Orphanet:284339 pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 7 -MONDO:0013996 MONDO:equivalentTo Orphanet:398173 focal facial dermal dysplasia type II Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type ii -MONDO:0013997 MONDO:equivalentTo Orphanet:398189 focal facial dermal dysplasia type IV Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type iv -MONDO:0014005 MONDO:equivalentTo Orphanet:329903 immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin-mediated membranoproliferative glomerulonephritis -MONDO:0014013 MONDO:equivalentTo Orphanet:411712 maternal riboflavin deficiency Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal riboflavin deficiency -MONDO:0014021 MONDO:equivalentTo Orphanet:391389 familial episodic pain syndrome with predominantly upper body involvement Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome with predominantly upper body involvement -MONDO:0014023 MONDO:equivalentTo Orphanet:329178 congenital muscular dystrophy with intellectual disability and severe epilepsy Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with intellectual disability and severe epilepsy -MONDO:0014025 MONDO:equivalentTo Orphanet:276435 lower motor neuron syndrome with late-adult onset Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower motor neuron syndrome with late-adult onset -MONDO:0014028 MONDO:equivalentTo Orphanet:329457 distal arthrogryposis type 5D Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis type 5d -MONDO:0014034 MONDO:equivalentTo Orphanet:363686 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome -MONDO:0014035 MONDO:equivalentTo Orphanet:404473 severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-progressive spastic diplegia syndrome -MONDO:0014043 MONDO:equivalentTo Orphanet:329228 microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism due to znf335 deficiency -MONDO:0014044 MONDO:equivalentTo Orphanet:289553 dysmorphism-conductive hearing loss-heart defect syndrome Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-conductive hearing loss-heart defect syndrome -MONDO:0014058 MONDO:equivalentTo Orphanet:352712 facial dysmorphism-immunodeficiency-livedo-short stature syndrome Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-immunodeficiency-livedo-short stature syndrome -MONDO:0014060 MONDO:equivalentTo Orphanet:352718 progressive retinal dystrophy due to retinol transport defect Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive retinal dystrophy due to retinol transport defect -MONDO:0014061 MONDO:equivalentTo Orphanet:438117 Steel syndrome Steel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steel syndrome -MONDO:0014067 MONDO:equivalentTo Orphanet:357175 short ulna-dysmorphism-hypotonia-intellectual disability syndrome Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short ulna-dysmorphism-hypotonia-intellectual disability syndrome -MONDO:0014069 MONDO:equivalentTo Orphanet:357332 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome -MONDO:0014070 MONDO:equivalentTo Orphanet:352745 oculocutaneous albinism type 7 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 7 -MONDO:0014072 MONDO:equivalentTo Orphanet:356978 D,L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d,l-2-hydroxyglutaric aciduria -MONDO:0014077 MONDO:equivalentTo Orphanet:352682 cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cobblestone lissencephaly without muscular or ocular involvement -MONDO:0014080 MONDO:equivalentTo Orphanet:500548 osteosclerotic metaphyseal dysplasia Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerotic metaphyseal dysplasia -MONDO:0014081 MONDO:equivalentTo Orphanet:357237 severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to card11 deficiency -MONDO:0014089 MONDO:equivalentTo Orphanet:352662 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome -MONDO:0014094 MONDO:equivalentTo Orphanet:300298 severe congenital hypochromic anemia with ringed sideroblasts Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital hypochromic anemia with ringed sideroblasts -MONDO:0014097 MONDO:equivalentTo Orphanet:2301 congenital short bowel syndrome Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome -MONDO:0014098 MONDO:equivalentTo Orphanet:435651 CIDEC-related familial partial lipodystrophy CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cidec-related familial partial lipodystrophy -MONDO:0014115 MONDO:equivalentTo Orphanet:363412 hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination with brain stem and spinal cord involvement and leg spasticity -MONDO:0014117 MONDO:equivalentTo Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b3 -MONDO:0014118 MONDO:equivalentTo Orphanet:369852 congenital neutropenia-myelofibrosis-nephromegaly syndrome Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neutropenia-myelofibrosis-nephromegaly syndrome -MONDO:0014119 MONDO:equivalentTo Orphanet:363528 intellectual disability-strabismus syndrome Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-strabismus syndrome -MONDO:0014127 MONDO:equivalentTo Orphanet:370091 oculocutaneous albinism type 5 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 5 -MONDO:0014131 MONDO:equivalentTo Orphanet:363523 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome -MONDO:0014148 MONDO:equivalentTo Orphanet:785 estrogen resistance syndrome Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label estrogen resistance syndrome -MONDO:0014149 MONDO:equivalentTo Orphanet:363409 fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia-cerebral and retinal hemorrhage syndrome -MONDO:0014160 MONDO:equivalentTo Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tcr-alpha-beta-positive t-cell deficiency -MONDO:0014162 MONDO:equivalentTo Orphanet:352563 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hypertrophic cardiomyopathy due to mrpl44 deficiency -MONDO:0014168 MONDO:equivalentTo Orphanet:228003 severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to coro1a deficiency -MONDO:0014190 MONDO:equivalentTo Orphanet:369913 combined oxidative phosphorylation defect type 17 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 17 -MONDO:0014197 MONDO:equivalentTo Orphanet:397964 combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to malt1 deficiency -MONDO:0014206 MONDO:equivalentTo Orphanet:440427 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset pulmonary alveolar proteinosis due to mars deficiency -MONDO:0014208 MONDO:equivalentTo Orphanet:397968 Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2r -MONDO:0014209 MONDO:equivalentTo Orphanet:352654 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -MONDO:0014212 MONDO:equivalentTo Orphanet:308400 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type c -MONDO:0014218 MONDO:equivalentTo Orphanet:369992 severe dermatitis-multiple allergies-metabolic wasting syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe dermatitis-multiple allergies-metabolic wasting syndrome -MONDO:0014224 MONDO:equivalentTo Orphanet:329195 developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with autism spectrum disorder and gait instability -MONDO:0014226 MONDO:equivalentTo Orphanet:228000 idiopathic CD4 lymphocytopenia Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic cd4 lymphocytopenia -MONDO:0014227 MONDO:equivalentTo Orphanet:324561 hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopigmentation-punctate palmoplantar keratoderma syndrome -MONDO:0014234 MONDO:equivalentTo Orphanet:178307 reticulate acropigmentation of Kitamura Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticulate acropigmentation of kitamura -MONDO:0014238 MONDO:equivalentTo Orphanet:391307 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome -MONDO:0014244 MONDO:equivalentTo Orphanet:391397 hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 7 -MONDO:0014247 MONDO:equivalentTo Orphanet:391392 familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome with predominantly lower limb involvement -MONDO:0014250 MONDO:equivalentTo Orphanet:397685 familial hyperprolactinemia Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperprolactinemia -MONDO:0014261 MONDO:equivalentTo Orphanet:391348 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome -MONDO:0014263 MONDO:equivalentTo Orphanet:508488 8q24.3 microdeletion syndrome 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q24.3 microdeletion syndrome -MONDO:0014267 MONDO:equivalentTo Orphanet:397787 severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to ikk2 deficiency -MONDO:0014268 MONDO:equivalentTo Orphanet:431149 combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to ox40 deficiency -MONDO:0014272 MONDO:equivalentTo Orphanet:140966 palmoplantar keratoderma, Nagashima type Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma, nagashima type -MONDO:0014273 MONDO:equivalentTo Orphanet:397951 microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-thin corpus callosum-intellectual disability syndrome -MONDO:0014274 MONDO:equivalentTo Orphanet:440731 L-ferritin deficiency L-ferritin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l-ferritin deficiency -MONDO:0014276 MONDO:equivalentTo Orphanet:169082 combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to cd3gamma deficiency -MONDO:0014289 MONDO:equivalentTo Orphanet:397612 macrocephaly-developmental delay syndrome Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-developmental delay syndrome -MONDO:0014292 MONDO:equivalentTo Orphanet:363540 leukoencephalopathy with mild cerebellar ataxia and white matter edema Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with mild cerebellar ataxia and white matter edema -MONDO:0014300 MONDO:equivalentTo Orphanet:401768 proximal myopathy with extrapyramidal signs Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal myopathy with extrapyramidal signs -MONDO:0014306 MONDO:equivalentTo Orphanet:404553 vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasculitis due to ada2 deficiency -MONDO:0014309 MONDO:equivalentTo Orphanet:397615 obesity due to CEP19 deficiency Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to cep19 deficiency -MONDO:0014313 MONDO:equivalentTo Orphanet:437552 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -MONDO:0014314 MONDO:equivalentTo Orphanet:397927 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome -MONDO:0014317 MONDO:equivalentTo Orphanet:401764 pancytopenia-developmental delay syndrome Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia-developmental delay syndrome -MONDO:0014331 MONDO:equivalentTo Orphanet:401945 Moyamoya disease with early-onset achalasia Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease with early-onset achalasia -MONDO:0014332 MONDO:equivalentTo Orphanet:401948 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperammonemic encephalopathy due to carbonic anhydrase va deficiency -MONDO:0014334 MONDO:equivalentTo Orphanet:280142 severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to lck deficiency -MONDO:0014336 MONDO:equivalentTo Orphanet:404440 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency -MONDO:0014338 MONDO:equivalentTo Orphanet:477661 IL21-related infantile inflammatory bowel disease IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label il21-related infantile inflammatory bowel disease -MONDO:0014342 MONDO:equivalentTo Orphanet:404466 female infertility due to zona pellucida defect Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility due to zona pellucida defect -MONDO:0014349 MONDO:equivalentTo Orphanet:411493 pontocerebellar hypoplasia type 10 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 10 -MONDO:0014351 MONDO:equivalentTo Orphanet:369920 pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 9 -MONDO:0014361 MONDO:equivalentTo Orphanet:352490 autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autism spectrum disorder due to auts2 deficiency -MONDO:0014369 MONDO:equivalentTo Orphanet:420584 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome -MONDO:0014380 MONDO:equivalentTo Orphanet:424099 colobomatous microphthalmia-rhizomelic dysplasia syndrome Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous microphthalmia-rhizomelic dysplasia syndrome -MONDO:0014388 MONDO:equivalentTo Orphanet:401942 familial median cleft of the upper and lower lips Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial median cleft of the upper and lower lips -MONDO:0014391 MONDO:equivalentTo Orphanet:420573 severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to ctps1 deficiency -MONDO:0014397 MONDO:equivalentTo Orphanet:420728 combined oxidative phosphorylation defect type 20 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 20 -MONDO:0014398 MONDO:equivalentTo Orphanet:420733 combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 21 -MONDO:0014402 MONDO:equivalentTo Orphanet:363400 severe neurodegenerative syndrome with lipodystrophy Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neurodegenerative syndrome with lipodystrophy -MONDO:0014403 MONDO:equivalentTo Orphanet:314811 short stature due to GHSR deficiency Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to ghsr deficiency -MONDO:0014405 MONDO:equivalentTo Orphanet:425120 STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sting-associated vasculopathy with onset in infancy -MONDO:0014410 MONDO:equivalentTo Orphanet:363710 spinocerebellar ataxia type 37 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 37 -MONDO:0014413 MONDO:equivalentTo Orphanet:434179 orofaciodigital syndrome type 14 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 14 -MONDO:0014414 MONDO:equivalentTo Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stat3-related early-onset multisystem autoimmune disease -MONDO:0014417 MONDO:equivalentTo Orphanet:423296 spinocerebellar ataxia type 38 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 38 -MONDO:0014420 MONDO:equivalentTo Orphanet:140941 short stature due to primary acid-labile subunit deficiency Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to primary acid-labile subunit deficiency -MONDO:0014423 MONDO:equivalentTo Orphanet:317425 severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to dna-pkcs deficiency -MONDO:0014429 MONDO:equivalentTo Orphanet:319581 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency -MONDO:0014431 MONDO:equivalentTo Orphanet:435660 LIPE-related familial partial lipodystrophy LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipe-related familial partial lipodystrophy -MONDO:0014449 MONDO:equivalentTo Orphanet:86816 congenital analbuminemia Congenital analbuminemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital analbuminemia -MONDO:0014452 MONDO:equivalentTo Orphanet:98881 familial dysfibrinogenemia Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial dysfibrinogenemia -MONDO:0014455 MONDO:equivalentTo Orphanet:436174 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome -MONDO:0014456 MONDO:equivalentTo Orphanet:423384 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to jagn1 deficiency -MONDO:0014460 MONDO:equivalentTo Orphanet:423454 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome -MONDO:0014464 MONDO:equivalentTo Orphanet:431361 progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive encephalopathy with leukodystrophy due to decr deficiency -MONDO:0014472 MONDO:equivalentTo Orphanet:436166 periodic fever-infantile enterocolitis-autoinflammatory syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever-infantile enterocolitis-autoinflammatory syndrome -MONDO:0014475 MONDO:equivalentTo Orphanet:423275 spinocerebellar ataxia type 40 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 40 -MONDO:0014483 MONDO:equivalentTo Orphanet:397758 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies -MONDO:0014487 MONDO:equivalentTo Orphanet:369861 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome -MONDO:0014489 MONDO:equivalentTo Orphanet:445110 limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-girdle muscular dystrophy due to pomk deficiency -MONDO:0014490 MONDO:equivalentTo Orphanet:438075 ketoacidosis due to monocarboxylate transporter-1 deficiency Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ketoacidosis due to monocarboxylate transporter-1 deficiency -MONDO:0014493 MONDO:equivalentTo Orphanet:436159 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency -MONDO:0014495 MONDO:equivalentTo Orphanet:436245 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome -MONDO:0014497 MONDO:equivalentTo Orphanet:453533 polyendocrine-polyneuropathy syndrome Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyendocrine-polyneuropathy syndrome -MONDO:0014502 MONDO:equivalentTo Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency -MONDO:0014507 MONDO:equivalentTo Orphanet:1388 Catel-Manzke syndrome Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catel-manzke syndrome -MONDO:0014510 MONDO:equivalentTo Orphanet:438178 fatty acyl-CoA reductase 1 deficiency Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatty acyl-coa reductase 1 deficiency -MONDO:0014512 MONDO:equivalentTo Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation -MONDO:0014520 MONDO:equivalentTo Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx ovarian dysgenesis-short stature syndrome -MONDO:0014521 MONDO:equivalentTo Orphanet:435438 progressive myoclonic epilepsy type 7 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 7 -MONDO:0014523 MONDO:equivalentTo Orphanet:445062 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome -MONDO:0014525 MONDO:equivalentTo Orphanet:444013 combined oxidative phosphorylation defect type 23 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 23 -MONDO:0014526 MONDO:equivalentTo Orphanet:456369 polyglucosan body myopathy type 2 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyglucosan body myopathy type 2 -MONDO:0014527 MONDO:equivalentTo Orphanet:435953 progeroid features-hepatocellular carcinoma predisposition syndrome Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid features-hepatocellular carcinoma predisposition syndrome -MONDO:0014529 MONDO:equivalentTo Orphanet:444072 cerebellar-facial-dental syndrome Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar-facial-dental syndrome -MONDO:0014532 MONDO:equivalentTo Orphanet:457050 autosomal dominant mitochondrial myopathy with exercise intolerance Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mitochondrial myopathy with exercise intolerance -MONDO:0014545 MONDO:equivalentTo Orphanet:424027 progressive myoclonic epilepsy type 8 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 8 -MONDO:0014547 MONDO:equivalentTo Orphanet:444458 combined oxidative phosphorylation defect type 24 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 24 -MONDO:0014552 MONDO:equivalentTo Orphanet:439897 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome -MONDO:0014555 MONDO:equivalentTo Orphanet:263548 peeling skin syndrome type A Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peeling skin syndrome type a -MONDO:0014558 MONDO:equivalentTo Orphanet:457193 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome -MONDO:0014559 MONDO:equivalentTo Orphanet:457212 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome -MONDO:0014562 MONDO:equivalentTo Orphanet:457185 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome -MONDO:0014576 MONDO:equivalentTo Orphanet:401862 lipoyl transferase 1 deficiency Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoyl transferase 1 deficiency -MONDO:0014602 MONDO:equivalentTo Orphanet:457279 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome -MONDO:0014605 MONDO:equivalentTo Orphanet:457284 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome -MONDO:0014608 MONDO:equivalentTo Orphanet:443995 mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis with alopecia -MONDO:0014622 MONDO:equivalentTo Orphanet:448264 isolated focal non-epidermolytic palmoplantar keratoderma Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal non-epidermolytic palmoplantar keratoderma -MONDO:0014626 MONDO:equivalentTo Orphanet:458798 spinocerebellar ataxia type 41 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 41 -MONDO:0014629 MONDO:equivalentTo Orphanet:444092 autoimmune interstitial lung disease-arthritis syndrome Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune interstitial lung disease-arthritis syndrome -MONDO:0014636 MONDO:equivalentTo Orphanet:447954 combined oxidative phosphorylation defect type 25 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 25 -MONDO:0014637 MONDO:equivalentTo Orphanet:447737 DOCK2 deficiency DOCK2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dock2 deficiency -MONDO:0014645 MONDO:equivalentTo Orphanet:464336 BENTA disease BENTA disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benta disease -MONDO:0014658 MONDO:equivalentTo Orphanet:85165 severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe achondroplasia-developmental delay-acanthosis nigricans syndrome -MONDO:0014684 MONDO:equivalentTo Orphanet:477684 combined oxidative phosphorylation defect type 26 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 26 -MONDO:0014685 MONDO:equivalentTo Orphanet:457265 progressive myoclonic epilepsy type 9 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 9 -MONDO:0014689 MONDO:equivalentTo Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil anomaly-myopathy-facial dysmorphism syndrome -MONDO:0014698 MONDO:equivalentTo Orphanet:457351 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome -MONDO:0014701 MONDO:equivalentTo Orphanet:459051 spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, stanescu type -MONDO:0014707 MONDO:equivalentTo Orphanet:488280 14q32 duplication syndrome 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q32 duplication syndrome -MONDO:0014710 MONDO:equivalentTo Orphanet:477857 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency -MONDO:0014711 MONDO:equivalentTo Orphanet:488333 autosomal dominant Charcot-Marie-Tooth disease type 2W Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2w -MONDO:0014714 MONDO:equivalentTo Orphanet:477814 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -MONDO:0014715 MONDO:equivalentTo Orphanet:431166 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection -MONDO:0014716 MONDO:equivalentTo Orphanet:457485 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome -MONDO:0014717 MONDO:equivalentTo Orphanet:324290 early-onset Lafora body disease Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset lafora body disease -MONDO:0014720 MONDO:equivalentTo Orphanet:1215 autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy plus syndrome -MONDO:0014722 MONDO:equivalentTo Orphanet:353298 Roifman syndrome Roifman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label roifman syndrome -MONDO:0014723 MONDO:equivalentTo Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pmp22-rai1 contiguous gene duplication syndrome -MONDO:0014725 MONDO:equivalentTo Orphanet:447997 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome -MONDO:0014728 MONDO:equivalentTo Orphanet:477774 combined oxidative phosphorylation defect type 27 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 27 -MONDO:0014731 MONDO:equivalentTo Orphanet:466926 seizures-scoliosis-macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seizures-scoliosis-macrocephaly syndrome -MONDO:0014743 MONDO:equivalentTo Orphanet:468717 rhizomelic chondrodysplasia punctata type 5 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 5 -MONDO:0014744 MONDO:equivalentTo Orphanet:466794 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome -MONDO:0014746 MONDO:equivalentTo Orphanet:468699 SLC39A8-CDG SLC39A8-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc39a8-cdg -MONDO:0014747 MONDO:equivalentTo Orphanet:488197 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome -MONDO:0014748 MONDO:equivalentTo Orphanet:457395 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome -MONDO:0014751 MONDO:equivalentTo Orphanet:477993 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome -MONDO:0014757 MONDO:equivalentTo Orphanet:487796 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome -MONDO:0014764 MONDO:equivalentTo Orphanet:464282 spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-severe developmental delay-epilepsy syndrome -MONDO:0014776 MONDO:equivalentTo Orphanet:458803 spinocerebellar ataxia type 42 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 42 -MONDO:0014778 MONDO:equivalentTo Orphanet:530983 Lamb-Shaffer syndrome Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamb-shaffer syndrome -MONDO:0014784 MONDO:equivalentTo Orphanet:467176 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome -MONDO:0014787 MONDO:equivalentTo Orphanet:466688 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome -MONDO:0014789 MONDO:equivalentTo Orphanet:468684 CCDC115-CDG CCDC115-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ccdc115-cdg -MONDO:0014790 MONDO:equivalentTo Orphanet:466703 TMEM199-CDG TMEM199-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tmem199-cdg -MONDO:0014791 MONDO:equivalentTo Orphanet:597738 Luscan-Lumish syndrome Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label luscan-lumish syndrome -MONDO:0014793 MONDO:equivalentTo Orphanet:488168 microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-congenital cataract-psoriasiform dermatitis syndrome -MONDO:0014800 MONDO:equivalentTo Orphanet:447977 progressive scapulohumeroperoneal distal myopathy Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive scapulohumeroperoneal distal myopathy -MONDO:0014801 MONDO:equivalentTo Orphanet:496751 even-plus syndrome EVEN-plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label even-plus syndrome -MONDO:0014805 MONDO:equivalentTo Orphanet:643549 Hao-Fountain syndrome Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hao-fountain syndrome -MONDO:0014809 MONDO:equivalentTo Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ddx41-related hematologic malignancy predisposition syndrome -MONDO:0014810 MONDO:equivalentTo Orphanet:317473 pancytopenia due to IKZF1 mutations Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia due to ikzf1 mutations -MONDO:0014816 MONDO:equivalentTo Orphanet:488232 split-foot malformation-mesoaxial polydactyly syndrome Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split-foot malformation-mesoaxial polydactyly syndrome -MONDO:0014821 MONDO:equivalentTo Orphanet:457378 complex lethal osteochondrodysplasia Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex lethal osteochondrodysplasia -MONDO:0014822 MONDO:equivalentTo Orphanet:261190 15q14 microdeletion syndrome 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q14 microdeletion syndrome -MONDO:0014827 MONDO:equivalentTo Orphanet:488594 autosomal recessive spastic paraplegia type 76 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 76 -MONDO:0014831 MONDO:equivalentTo Orphanet:300382 progeroid and marfanoid aspect-lipodystrophy syndrome Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid and marfanoid aspect-lipodystrophy syndrome -MONDO:0014848 MONDO:equivalentTo Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telo2-related intellectual disability-neurodevelopmental disorder -MONDO:0014856 MONDO:equivalentTo Orphanet:478042 combined oxidative phosphorylation defect type 30 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 30 -MONDO:0014865 MONDO:equivalentTo Orphanet:420702 autosomal recessive severe congenital neutropenia due to CSF3R deficiency Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to csf3r deficiency -MONDO:0014869 MONDO:equivalentTo Orphanet:528091 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome -MONDO:0014870 MONDO:equivalentTo Orphanet:464366 NEK9-related lethal skeletal dysplasia NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nek9-related lethal skeletal dysplasia -MONDO:0014873 MONDO:equivalentTo Orphanet:64754 nevus comedonicus syndrome Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus comedonicus syndrome -MONDO:0014881 MONDO:equivalentTo Orphanet:488618 transketolase deficiency Transketolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transketolase deficiency -MONDO:0014886 MONDO:equivalentTo Orphanet:488627 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome -MONDO:0014888 MONDO:equivalentTo Orphanet:494433 MIRAGE syndrome MIRAGE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirage syndrome -MONDO:0014892 MONDO:equivalentTo Orphanet:476126 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome -MONDO:0014896 MONDO:equivalentTo Orphanet:486815 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome -MONDO:0014912 MONDO:equivalentTo Orphanet:500062 infantile-onset periodic fever-panniculitis-dermatosis syndrome Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset periodic fever-panniculitis-dermatosis syndrome -MONDO:0014918 MONDO:equivalentTo Orphanet:500095 tall stature-intellectual disability-renal anomalies syndrome Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tall stature-intellectual disability-renal anomalies syndrome -MONDO:0014944 MONDO:equivalentTo Orphanet:464288 short stature-brachydactyly-obesity-global developmental delay syndrome Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-brachydactyly-obesity-global developmental delay syndrome -MONDO:0014952 MONDO:equivalentTo Orphanet:468620 intellectual disability-epilepsy-extrapyramidal syndrome Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-epilepsy-extrapyramidal syndrome -MONDO:0014953 MONDO:equivalentTo Orphanet:542306 gnb5-related intellectual disability-cardiac arrhythmia syndrome GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnb5-related intellectual disability-cardiac arrhythmia syndrome -MONDO:0014969 MONDO:equivalentTo Orphanet:440713 isolated sedoheptulokinase deficiency Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sedoheptulokinase deficiency -MONDO:0014975 MONDO:equivalentTo Orphanet:513436 autosomal recessive spastic paraplegia type 78 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 78 -MONDO:0014976 MONDO:equivalentTo Orphanet:478049 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome -MONDO:0015010 MONDO:equivalentTo Orphanet:289863 atypical glycine encephalopathy Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical glycine encephalopathy -MONDO:0015012 MONDO:equivalentTo Orphanet:505248 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders -MONDO:0015027 MONDO:equivalentTo Orphanet:99879 familial isolated hyperparathyroidism Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hyperparathyroidism -MONDO:0015028 MONDO:equivalentTo Orphanet:10 48,XXYY syndrome 48,XXYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xxyy syndrome -MONDO:0015029 MONDO:equivalentTo Orphanet:100000 reticular perineurioma Reticular perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular perineurioma -MONDO:0015030 MONDO:equivalentTo Orphanet:100001 sclerosing perineurioma Sclerosing perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing perineurioma -MONDO:0015031 MONDO:equivalentTo Orphanet:100002 extraneural perineurioma Extraneural perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraneural perineurioma -MONDO:0015032 MONDO:equivalentTo Orphanet:100003 intraneural perineurioma Intraneural perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraneural perineurioma -MONDO:0015033 MONDO:equivalentTo Orphanet:100006 ABeta amyloidosis, dutch type ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, dutch type -MONDO:0015034 MONDO:equivalentTo Orphanet:100011 lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type a -MONDO:0015035 MONDO:equivalentTo Orphanet:100012 lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type b -MONDO:0015036 MONDO:equivalentTo Orphanet:100013 lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type c -MONDO:0015037 MONDO:equivalentTo Orphanet:100014 lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type d -MONDO:0015038 MONDO:equivalentTo Orphanet:100015 lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type e -MONDO:0015039 MONDO:equivalentTo Orphanet:100016 lissencephaly with cerebellar hypoplasia type F Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type f -MONDO:0015042 MONDO:equivalentTo Orphanet:100021 primary plasmacytoma of the bone Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary plasmacytoma of the bone -MONDO:0015043 MONDO:equivalentTo Orphanet:100022 extramedullary soft tissue plasmacytoma Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary soft tissue plasmacytoma -MONDO:0015044 MONDO:equivalentTo Orphanet:100024 mu-heavy chain disease Mu-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mu-heavy chain disease -MONDO:0015045 MONDO:equivalentTo Orphanet:100025 alpha-heavy chain disease Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-heavy chain disease -MONDO:0015046 MONDO:equivalentTo Orphanet:100026 gamma-heavy chain disease Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gamma-heavy chain disease -MONDO:0015049 MONDO:equivalentTo Orphanet:100035 solitary necrotic nodule of the liver Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary necrotic nodule of the liver -MONDO:0015050 MONDO:equivalentTo Orphanet:100047 esophageal duplication cyst Esophageal duplication cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal duplication cyst -MONDO:0015051 MONDO:equivalentTo Orphanet:100048 tubular duplication of the esophagus Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubular duplication of the esophagus -MONDO:0015053 MONDO:equivalentTo Orphanet:100050 hereditary angioedema type 1 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema type 1 -MONDO:0015054 MONDO:equivalentTo Orphanet:100051 hereditary angioedema type 2 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema type 2 -MONDO:0015055 MONDO:equivalentTo Orphanet:100055 acquired angioedema type 2 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema type 2 -MONDO:0015056 MONDO:equivalentTo Orphanet:100056 acquired angioedema type 1 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema type 1 -MONDO:0015057 MONDO:equivalentTo Orphanet:100057 renin-angiotensin-aldosterone system-blocker-induced angioedema Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renin-angiotensin-aldosterone system-blocker-induced angioedema -MONDO:0015059 MONDO:equivalentTo Orphanet:100070 progressive non-fluent aphasia Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia -MONDO:0015060 MONDO:equivalentTo Orphanet:100071 mosaic trisomy 3 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 3 -MONDO:0015061 MONDO:equivalentTo Orphanet:100073 neurogenic thoracic outlet syndrome Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurogenic thoracic outlet syndrome -MONDO:0015071 MONDO:equivalentTo Orphanet:100084 middle ear neuroendocrine tumor Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle ear neuroendocrine tumor -MONDO:0015079 MONDO:equivalentTo Orphanet:100094 multiple polyglandular tumor Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple polyglandular tumor -MONDO:0015082 MONDO:equivalentTo Orphanet:1006 alopecia antibody deficiency Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia antibody deficiency -MONDO:0015084 MONDO:equivalentTo Orphanet:100974 FRAXF syndrome FRAXF syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraxf syndrome -MONDO:0015085 MONDO:equivalentTo Orphanet:100976 bathing suit ichthyosis Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bathing suit ichthyosis -MONDO:0015086 MONDO:equivalentTo Orphanet:100978 cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloverleaf skull-asphyxiating thoracic dysplasia syndrome -MONDO:0015087 MONDO:equivalentTo Orphanet:100979 autosomal dominant complex spastic paraplegia Autosomal dominant complex spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant complex spastic paraplegia -MONDO:0015092 MONDO:equivalentTo Orphanet:101023 cleft hard palate Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate -MONDO:0015093 MONDO:equivalentTo Orphanet:101029 sub-cortical nodular heterotopia Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sub-cortical nodular heterotopia -MONDO:0015094 MONDO:equivalentTo Orphanet:101030 subependymal nodular heterotopia Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymal nodular heterotopia -MONDO:0015096 MONDO:equivalentTo Orphanet:101041 familial hypofibrinogenemia Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypofibrinogenemia -MONDO:0015099 MONDO:equivalentTo Orphanet:101071 unilateral hemispheric polymicrogyria Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral hemispheric polymicrogyria -MONDO:0015100 MONDO:equivalentTo Orphanet:101096 aregenerative anemia Aregenerative anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aregenerative anemia -MONDO:0015101 MONDO:equivalentTo Orphanet:101104 Marin-Amat syndrome Marin-Amat syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marin-amat syndrome -MONDO:0015103 MONDO:equivalentTo Orphanet:101206 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome -MONDO:0015104 MONDO:equivalentTo Orphanet:101330 porphyria cutanea tarda Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda -MONDO:0015126 MONDO:equivalentTo Orphanet:101956 polyendocrinopathy Polyendocrinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyendocrinopathy -MONDO:0015127 MONDO:equivalentTo Orphanet:101957 pituitary deficiency Pituitary deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary deficiency -MONDO:0015128 MONDO:equivalentTo Orphanet:101958 primary adrenal insufficiency Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary adrenal insufficiency -MONDO:0015129 MONDO:equivalentTo Orphanet:101959 chronic primary adrenal insufficiency Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic primary adrenal insufficiency -MONDO:0015134 MONDO:equivalentTo Orphanet:101987 constitutional neutropenia Constitutional neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constitutional neutropenia -MONDO:0015137 MONDO:equivalentTo Orphanet:101995 periodic fever syndrome Periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever syndrome -MONDO:0015140 MONDO:equivalentTo Orphanet:1020 early-onset autosomal dominant Alzheimer disease Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autosomal dominant alzheimer disease -MONDO:0015146 MONDO:equivalentTo Orphanet:102009 classic lissencephaly Classic lissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic lissencephaly -MONDO:0015148 MONDO:equivalentTo Orphanet:102011 lissencephaly type 3 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 -MONDO:0015149 MONDO:equivalentTo Orphanet:102012 pure hereditary spastic paraplegia Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure hereditary spastic paraplegia -MONDO:0015150 MONDO:equivalentTo Orphanet:102013 complex hereditary spastic paraplegia Complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex hereditary spastic paraplegia -MONDO:0015152 MONDO:equivalentTo Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy -MONDO:0015158 MONDO:equivalentTo Orphanet:102237 unexplained periodic fever syndrome Unexplained periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unexplained periodic fever syndrome -MONDO:0015159 MONDO:equivalentTo Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015161 MONDO:equivalentTo Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015164 MONDO:equivalentTo Orphanet:102379 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent -MONDO:0015165 MONDO:equivalentTo Orphanet:102381 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor -MONDO:0015166 MONDO:equivalentTo Orphanet:102724 acute myeloid leukemia with t(8;21)(q22;q22) translocation Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(8;21)(q22;q22) translocation -MONDO:0015168 MONDO:equivalentTo Orphanet:1037 arthrogryposis multiplex congenita Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita -MONDO:0015169 MONDO:equivalentTo Orphanet:103907 chronic diarrhea due to glucoamylase deficiency Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic diarrhea due to glucoamylase deficiency -MONDO:0015170 MONDO:equivalentTo Orphanet:103908 congenital sodium diarrhea Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sodium diarrhea -MONDO:0015171 MONDO:equivalentTo Orphanet:103910 congenital enterocyte heparan sulfate deficiency Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enterocyte heparan sulfate deficiency -MONDO:0015175 MONDO:equivalentTo Orphanet:103919 autoimmune pancreatitis Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis -MONDO:0015176 MONDO:equivalentTo Orphanet:103920 undetermined colitis Undetermined colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undetermined colitis -MONDO:0015177 MONDO:equivalentTo Orphanet:1040 metaphyseal anadysplasia Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal anadysplasia -MONDO:0015183 MONDO:equivalentTo Orphanet:104008 short bowel syndrome Short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short bowel syndrome -MONDO:0015185 MONDO:equivalentTo Orphanet:104010 intestinal polyposis syndrome Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal polyposis syndrome -MONDO:0015191 MONDO:equivalentTo Orphanet:104077 myopathic intestinal pseudoobstruction Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathic intestinal pseudoobstruction -MONDO:0015193 MONDO:equivalentTo Orphanet:1041 hydrops fetalis Hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops fetalis -MONDO:0015194 MONDO:equivalentTo Orphanet:1047 sideroblastic anemia Sideroblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sideroblastic anemia -MONDO:0015195 MONDO:equivalentTo Orphanet:105 atresia of urethra Atresia of urethra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atresia of urethra -MONDO:0015197 MONDO:equivalentTo Orphanet:1054 aneurysm of sinus of Valsalva Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysm of sinus of valsalva -MONDO:0015198 MONDO:equivalentTo Orphanet:1067 aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-ptosis-intellectual disability-familial obesity syndrome -MONDO:0015200 MONDO:equivalentTo Orphanet:1070 anisakiasis Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis -MONDO:0015203 MONDO:equivalentTo Orphanet:1081 coronary artery congenital malformation Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary artery congenital malformation -MONDO:0015204 MONDO:equivalentTo Orphanet:1083 microlissencephaly Microlissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly -MONDO:0015205 MONDO:equivalentTo Orphanet:1084 isolated lissencephaly type 1 without known genetic defects Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated lissencephaly type 1 without known genetic defects -MONDO:0015209 MONDO:equivalentTo Orphanet:108963 non-syndromic gastroduodenal malformation Non-syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic gastroduodenal malformation -MONDO:0015210 MONDO:equivalentTo Orphanet:108965 syndromic gastroduodenal malformation Syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic gastroduodenal malformation -MONDO:0015211 MONDO:equivalentTo Orphanet:108967 non-syndromic intestinal malformation Non-syndromic intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic intestinal malformation -MONDO:0015212 MONDO:equivalentTo Orphanet:108969 syndromic intestinal malformation Syndromic intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic intestinal malformation -MONDO:0015213 MONDO:equivalentTo Orphanet:108971 non-syndromic visceral malformation Non-syndromic visceral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic visceral malformation -MONDO:0015214 MONDO:equivalentTo Orphanet:108973 syndromic visceral malformation Syndromic visceral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic visceral malformation -MONDO:0015221 MONDO:equivalentTo Orphanet:108993 non-syndromic respiratory or mediastinal malformation Non-syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic respiratory or mediastinal malformation -MONDO:0015222 MONDO:equivalentTo Orphanet:108995 syndromic respiratory or mediastinal malformation Syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic respiratory or mediastinal malformation -MONDO:0015225 MONDO:equivalentTo Orphanet:109007 arthrogryposis syndrome Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis syndrome -MONDO:0015227 MONDO:equivalentTo Orphanet:109011 non-syndromic limb malformation Non-syndromic limb malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic limb malformation -MONDO:0015228 MONDO:equivalentTo Orphanet:11 pentasomy X Pentasomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentasomy x -MONDO:0015229 MONDO:equivalentTo Orphanet:110 Bardet-Biedl syndrome Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome -MONDO:0015230 MONDO:equivalentTo Orphanet:1101 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome -MONDO:0015231 MONDO:equivalentTo Orphanet:112 Bartter syndrome Bartter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartter syndrome -MONDO:0015232 MONDO:equivalentTo Orphanet:1121 radial deficiency-tibial hypoplasia syndrome Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial deficiency-tibial hypoplasia syndrome -MONDO:0015233 MONDO:equivalentTo Orphanet:1123 caudal appendage-deafness syndrome Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal appendage-deafness syndrome -MONDO:0015234 MONDO:equivalentTo Orphanet:1129 arachnodactyly-abnormal ossification-intellectual disability syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnodactyly-abnormal ossification-intellectual disability syndrome -MONDO:0015235 MONDO:equivalentTo Orphanet:1130 arachnodactyly-intellectual disability-dysmorphism syndrome Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnodactyly-intellectual disability-dysmorphism syndrome -MONDO:0015236 MONDO:equivalentTo Orphanet:1132 aortic arch defects Aortic arch defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch defects -MONDO:0015238 MONDO:equivalentTo Orphanet:1135 arrhinia-choanal atresia-microphthalmia syndrome Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arrhinia-choanal atresia-microphthalmia syndrome -MONDO:0015239 MONDO:equivalentTo Orphanet:1138 abnormal origin of the pulmonary artery Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abnormal origin of the pulmonary artery -MONDO:0015243 MONDO:equivalentTo Orphanet:1164 allergic bronchopulmonary aspergillosis Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic bronchopulmonary aspergillosis -MONDO:0015244 MONDO:equivalentTo Orphanet:1172 autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebellar ataxia -MONDO:0015246 MONDO:equivalentTo Orphanet:117573 syndromic anorectal malformation Syndromic anorectal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic anorectal malformation -MONDO:0015247 MONDO:equivalentTo Orphanet:1183 opsoclonus-myoclonus syndrome Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opsoclonus-myoclonus syndrome -MONDO:0015248 MONDO:equivalentTo Orphanet:1184 ataxia-photosensitivity-short stature syndrome Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-photosensitivity-short stature syndrome -MONDO:0015250 MONDO:equivalentTo Orphanet:1217 spinal atrophy-ophthalmoplegia-pyramidal syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal atrophy-ophthalmoplegia-pyramidal syndrome -MONDO:0015252 MONDO:equivalentTo Orphanet:1236 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome -MONDO:0015253 MONDO:equivalentTo Orphanet:124 Diamond-Blackfan anemia Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia -MONDO:0015254 MONDO:equivalentTo Orphanet:1247 schistosomiasis Schistosomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schistosomiasis -MONDO:0015259 MONDO:equivalentTo Orphanet:1277 brachydactyly-mesomelia-intellectual disability-heart defects syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-mesomelia-intellectual disability-heart defects syndrome -MONDO:0015260 MONDO:equivalentTo Orphanet:128 diphyllobothriasis Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis -MONDO:0015261 MONDO:equivalentTo Orphanet:129 pseudopelade of Brocq Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudopelade of brocq -MONDO:0015262 MONDO:equivalentTo Orphanet:1293 brachyolmia Brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia -MONDO:0015263 MONDO:equivalentTo Orphanet:130 Brugada syndrome Brugada syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brugada syndrome -MONDO:0015264 MONDO:equivalentTo Orphanet:1302 cryptogenic organizing pneumonia Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic organizing pneumonia -MONDO:0015267 MONDO:equivalentTo Orphanet:1305 Feingold syndrome Feingold syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome -MONDO:0015268 MONDO:equivalentTo Orphanet:1309 medullary sponge kidney Medullary sponge kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medullary sponge kidney -MONDO:0015269 MONDO:equivalentTo Orphanet:1314 symmetrical thalamic calcifications Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symmetrical thalamic calcifications -MONDO:0015270 MONDO:equivalentTo Orphanet:132 butyrylcholinesterase deficiency Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label butyrylcholinesterase deficiency -MONDO:0015271 MONDO:equivalentTo Orphanet:1320 idiopathic camptocormia Idiopathic camptocormia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic camptocormia -MONDO:0015272 MONDO:equivalentTo Orphanet:1325 camptodactyly-taurinuria syndrome Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly-taurinuria syndrome -MONDO:0015274 MONDO:equivalentTo Orphanet:133 chronic beryllium disease Chronic beryllium disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic beryllium disease -MONDO:0015278 MONDO:equivalentTo Orphanet:1333 familial pancreatic carcinoma Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pancreatic carcinoma -MONDO:0015279 MONDO:equivalentTo Orphanet:1334 chronic mucocutaneous candidiasis Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic mucocutaneous candidiasis -MONDO:0015280 MONDO:equivalentTo Orphanet:1340 cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiofaciocutaneous syndrome -MONDO:0015281 MONDO:equivalentTo Orphanet:1344 atrial standstill Atrial standstill semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill -MONDO:0015282 MONDO:equivalentTo Orphanet:1345 cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy-cataract-hip spine disease syndrome -MONDO:0015284 MONDO:equivalentTo Orphanet:1350 heart-hand syndrome type 2 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome type 2 -MONDO:0015285 MONDO:equivalentTo Orphanet:1359 Carney complex Carney complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney complex -MONDO:0015286 MONDO:equivalentTo Orphanet:137 congenital disorder of glycosylation Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of glycosylation -MONDO:0015289 MONDO:equivalentTo Orphanet:137593 infectious epithelial keratitis Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious epithelial keratitis -MONDO:0015290 MONDO:equivalentTo Orphanet:137596 neurotrophic keratopathy Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurotrophic keratopathy -MONDO:0015293 MONDO:equivalentTo Orphanet:137608 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome -MONDO:0015294 MONDO:equivalentTo Orphanet:137617 nephrogenic systemic fibrosis Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis -MONDO:0015295 MONDO:equivalentTo Orphanet:137622 intractable diarrhea-choanal atresia-eye anomalies syndrome Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intractable diarrhea-choanal atresia-eye anomalies syndrome -MONDO:0015296 MONDO:equivalentTo Orphanet:137628 cardiac anomalies-heterotaxy syndrome Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac anomalies-heterotaxy syndrome -MONDO:0015298 MONDO:equivalentTo Orphanet:137672 pellucid marginal degeneration Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pellucid marginal degeneration -MONDO:0015299 MONDO:equivalentTo Orphanet:137686 Asherman syndrome Asherman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asherman syndrome -MONDO:0015301 MONDO:equivalentTo Orphanet:137807 primary cutaneous amyloidosis Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis -MONDO:0015302 MONDO:equivalentTo Orphanet:137810 nodular cutaneous amyloidosis Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular cutaneous amyloidosis -MONDO:0015303 MONDO:equivalentTo Orphanet:137814 macular amyloidosis Macular amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular amyloidosis -MONDO:0015304 MONDO:equivalentTo Orphanet:137817 arachnoiditis Arachnoiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnoiditis -MONDO:0015306 MONDO:equivalentTo Orphanet:137839 Lemierre syndrome Lemierre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lemierre syndrome -MONDO:0015307 MONDO:equivalentTo Orphanet:137867 Madras motor neuron disease Madras motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label madras motor neuron disease -MONDO:0015312 MONDO:equivalentTo Orphanet:137917 choanal atresia, unilateral Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia, unilateral -MONDO:0015313 MONDO:equivalentTo Orphanet:137920 choanal atresia, bilateral Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia, bilateral -MONDO:0015314 MONDO:equivalentTo Orphanet:137926 primary laryngeal lymphangioma Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary laryngeal lymphangioma -MONDO:0015315 MONDO:equivalentTo Orphanet:137929 neonatal brainstem dysfunction Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal brainstem dysfunction -MONDO:0015316 MONDO:equivalentTo Orphanet:137932 congenital laryngeal palsy Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal palsy -MONDO:0015317 MONDO:equivalentTo Orphanet:137935 laryngotracheal angioma Laryngotracheal angioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheal angioma -MONDO:0015324 MONDO:equivalentTo Orphanet:1381 cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-intellectual disability-anal atresia-urinary defects syndrome -MONDO:0015325 MONDO:equivalentTo Orphanet:1383 cataract-deafness-hypogonadism syndrome Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-deafness-hypogonadism syndrome -MONDO:0015326 MONDO:equivalentTo Orphanet:1390 night blindness-skeletal anomalies-dysmorphism syndrome Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness-skeletal anomalies-dysmorphism syndrome -MONDO:0015327 MONDO:equivalentTo Orphanet:139009 developmental anomaly of metabolic origin Developmental anomaly of metabolic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental anomaly of metabolic origin -MONDO:0015330 MONDO:equivalentTo Orphanet:139024 overgrowth/obesity syndrome Overgrowth/obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth/obesity syndrome -MONDO:0015333 MONDO:equivalentTo Orphanet:139033 progeroid syndrome Progeroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid syndrome -MONDO:0015334 MONDO:equivalentTo Orphanet:139036 branchial arch or oral-acral syndrome Branchial arch or oral-acral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchial arch or oral-acral syndrome -MONDO:0015338 MONDO:equivalentTo Orphanet:139393 syndromic craniosynostosis Syndromic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic craniosynostosis -MONDO:0015339 MONDO:equivalentTo Orphanet:139399 adrenomyeloneuropathy Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyeloneuropathy -MONDO:0015341 MONDO:equivalentTo Orphanet:139414 congenital panfollicular nevus Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital panfollicular nevus -MONDO:0015342 MONDO:equivalentTo Orphanet:139417 acute transverse myelitis Acute transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute transverse myelitis -MONDO:0015344 MONDO:equivalentTo Orphanet:139423 idiopathic acute transverse myelitis Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic acute transverse myelitis -MONDO:0015345 MONDO:equivalentTo Orphanet:139426 perioral myoclonia with absences Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perioral myoclonia with absences -MONDO:0015346 MONDO:equivalentTo Orphanet:139431 Jeavons syndrome Jeavons syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jeavons syndrome -MONDO:0015347 MONDO:equivalentTo Orphanet:139436 multicentric reticulohistiocytosis Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric reticulohistiocytosis -MONDO:0015348 MONDO:equivalentTo Orphanet:139444 leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with bilateral anterior temporal lobe cysts -MONDO:0015349 MONDO:equivalentTo Orphanet:139447 progressive cavitating leukoencephalopathy Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive cavitating leukoencephalopathy -MONDO:0015350 MONDO:equivalentTo Orphanet:139474 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 17q11.2 microduplication syndrome -MONDO:0015351 MONDO:equivalentTo Orphanet:139512 neuropathy with hearing impairment Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuropathy with hearing impairment -MONDO:0015352 MONDO:equivalentTo Orphanet:139525 distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy type 2 -MONDO:0015354 MONDO:equivalentTo Orphanet:139573 hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy with deafness and global delay -MONDO:0015355 MONDO:equivalentTo Orphanet:139589 distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy type 7 -MONDO:0015357 MONDO:equivalentTo Orphanet:140286 secondary hypoparathyroidism due to impaired parathormon secretion Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypoparathyroidism due to impaired parathormon secretion -MONDO:0015364 MONDO:equivalentTo Orphanet:140471 hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy -MONDO:0015367 MONDO:equivalentTo Orphanet:1406 Charlie M syndrome Charlie M syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charlie m syndrome -MONDO:0015369 MONDO:equivalentTo Orphanet:140874 Joubert syndrome and related disorders Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome and related disorders -MONDO:0015371 MONDO:equivalentTo Orphanet:140933 linear atrophoderma of Moulin Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear atrophoderma of moulin -MONDO:0015372 MONDO:equivalentTo Orphanet:140957 autosomal dominant macrothrombocytopenia Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant macrothrombocytopenia -MONDO:0015375 MONDO:equivalentTo Orphanet:140997 orofaciodigital syndrome Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome -MONDO:0015376 MONDO:equivalentTo Orphanet:141013 first branchial cleft anomaly First branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label first branchial cleft anomaly -MONDO:0015377 MONDO:equivalentTo Orphanet:141030 third branchial cleft anomaly Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label third branchial cleft anomaly -MONDO:0015378 MONDO:equivalentTo Orphanet:141037 fourth branchial cleft anomaly Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fourth branchial cleft anomaly -MONDO:0015379 MONDO:equivalentTo Orphanet:141046 cervical dermoid cyst Cervical dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical dermoid cyst -MONDO:0015380 MONDO:equivalentTo Orphanet:141051 facial dermoid cyst Facial dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dermoid cyst -MONDO:0015381 MONDO:equivalentTo Orphanet:141061 commissural lip fistula Commissural lip fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label commissural lip fistula -MONDO:0015382 MONDO:equivalentTo Orphanet:141064 lower lip fistula Lower lip fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower lip fistula -MONDO:0015383 MONDO:equivalentTo Orphanet:141067 cervicofacial fibrochondroma Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial fibrochondroma -MONDO:0015384 MONDO:equivalentTo Orphanet:141071 digestive duplication cyst of the tongue Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive duplication cyst of the tongue -MONDO:0015386 MONDO:equivalentTo Orphanet:141077 epignathus Epignathus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epignathus -MONDO:0015387 MONDO:equivalentTo Orphanet:141083 nasolacrimal duct cyst Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasolacrimal duct cyst -MONDO:0015388 MONDO:equivalentTo Orphanet:141091 polyrrhinia Polyrrhinia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyrrhinia -MONDO:0015389 MONDO:equivalentTo Orphanet:141096 supernumerary nostril Supernumerary nostril semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supernumerary nostril -MONDO:0015390 MONDO:equivalentTo Orphanet:141099 proboscis lateralis Proboscis lateralis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proboscis lateralis -MONDO:0015391 MONDO:equivalentTo Orphanet:141107 nasopharyngeal teratoma Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma -MONDO:0015392 MONDO:equivalentTo Orphanet:141112 nasal glial heterotopia Nasal glial heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia -MONDO:0015393 MONDO:equivalentTo Orphanet:141115 nasal ganglioglioma Nasal ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal ganglioglioma -MONDO:0015394 MONDO:equivalentTo Orphanet:141118 nasal encephalocele Nasal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal encephalocele -MONDO:0015395 MONDO:equivalentTo Orphanet:141121 congenital subglottic stenosis Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis -MONDO:0015396 MONDO:equivalentTo Orphanet:141124 congenital laryngeal cyst Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal cyst -MONDO:0015399 MONDO:equivalentTo Orphanet:141163 glossopalatine ankylosis Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossopalatine ankylosis -MONDO:0015400 MONDO:equivalentTo Orphanet:141168 frontonasal arteriovenous malformation Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal arteriovenous malformation -MONDO:0015401 MONDO:equivalentTo Orphanet:141171 maxillary arteriovenous malformation Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maxillary arteriovenous malformation -MONDO:0015402 MONDO:equivalentTo Orphanet:141174 mandibular arteriovenous malformation Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibular arteriovenous malformation -MONDO:0015403 MONDO:equivalentTo Orphanet:141179 non-involuting congenital hemangioma Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma -MONDO:0015404 MONDO:equivalentTo Orphanet:141184 rapidly involuting congenital hemangioma Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma -MONDO:0015405 MONDO:equivalentTo Orphanet:141189 cerebrofacial arteriovenous metameric syndrome Cerebrofacial arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome -MONDO:0015406 MONDO:equivalentTo Orphanet:141194 cerebrofacial arteriovenous metameric syndrome type 1 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome type 1 -MONDO:0015407 MONDO:equivalentTo Orphanet:141199 cerebrofacial arteriovenous metameric syndrome type 3 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome type 3 -MONDO:0015408 MONDO:equivalentTo Orphanet:141209 diffuse lymphatic malformation Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse lymphatic malformation -MONDO:0015409 MONDO:equivalentTo Orphanet:141214 isolated congenital syngnathia Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital syngnathia -MONDO:0015411 MONDO:equivalentTo Orphanet:141229 facial cleft Facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial cleft -MONDO:0015412 MONDO:equivalentTo Orphanet:141234 median facial cleft Median facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median facial cleft -MONDO:0015413 MONDO:equivalentTo Orphanet:141239 median cleft of the upper lip and maxilla Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median cleft of the upper lip and maxilla -MONDO:0015414 MONDO:equivalentTo Orphanet:141242 paramedian nasal cleft Paramedian nasal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramedian nasal cleft -MONDO:0015415 MONDO:equivalentTo Orphanet:141253 oblique facial cleft Oblique facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oblique facial cleft -MONDO:0015416 MONDO:equivalentTo Orphanet:141261 Tessier number 5 facial cleft Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 5 facial cleft -MONDO:0015417 MONDO:equivalentTo Orphanet:141265 Tessier number 6 facial cleft Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 6 facial cleft -MONDO:0015418 MONDO:equivalentTo Orphanet:141269 lateral facial cleft Lateral facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lateral facial cleft -MONDO:0015419 MONDO:equivalentTo Orphanet:141288 midline cervical cleft Midline cervical cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label midline cervical cleft -MONDO:0015420 MONDO:equivalentTo Orphanet:141291 cleft lip and alveolus Cleft lip and alveolus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip and alveolus -MONDO:0015421 MONDO:equivalentTo Orphanet:141327 orofaciodigital syndrome type 12 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 12 -MONDO:0015422 MONDO:equivalentTo Orphanet:141330 orofaciodigital syndrome type 13 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 13 -MONDO:0015425 MONDO:equivalentTo Orphanet:1423 lethal recessive chondrodysplasia Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal recessive chondrodysplasia -MONDO:0015427 MONDO:equivalentTo Orphanet:1431 paroxysmal dyskinesia Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal dyskinesia -MONDO:0015428 MONDO:equivalentTo Orphanet:1433 choroidal atrophy-alopecia syndrome Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroidal atrophy-alopecia syndrome -MONDO:0015445 MONDO:equivalentTo Orphanet:1455 autosomal dominant coarctation of aorta Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant coarctation of aorta -MONDO:0015446 MONDO:equivalentTo Orphanet:1456 atypical coarctation of aorta Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical coarctation of aorta -MONDO:0015447 MONDO:equivalentTo Orphanet:146 differentiated thyroid carcinoma Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label differentiated thyroid carcinoma -MONDO:0015449 MONDO:equivalentTo Orphanet:1461 criss-cross heart Criss-cross heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label criss-cross heart -MONDO:0015450 MONDO:equivalentTo Orphanet:1463 triatrial heart Triatrial heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triatrial heart -MONDO:0015451 MONDO:equivalentTo Orphanet:1464 univentricular heart Univentricular heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label univentricular heart -MONDO:0015452 MONDO:equivalentTo Orphanet:1465 Coffin-Siris syndrome Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome -MONDO:0015453 MONDO:equivalentTo Orphanet:1467 Cogan syndrome Cogan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cogan syndrome -MONDO:0015454 MONDO:equivalentTo Orphanet:148 multiple carboxylase deficiency Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple carboxylase deficiency -MONDO:0015455 MONDO:equivalentTo Orphanet:1482 gonococcal conjunctivitis Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal conjunctivitis -MONDO:0015458 MONDO:equivalentTo Orphanet:1495 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome -MONDO:0015459 MONDO:equivalentTo Orphanet:150 nasopharyngeal carcinoma Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma -MONDO:0015461 MONDO:equivalentTo Orphanet:1505 short rib-polydactyly syndrome Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short rib-polydactyly syndrome -MONDO:0015462 MONDO:equivalentTo Orphanet:1506 thin ribs-tubular bones-dysmorphism syndrome Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thin ribs-tubular bones-dysmorphism syndrome -MONDO:0015464 MONDO:equivalentTo Orphanet:1521 craniofrontonasal dysplasia-Poland anomaly syndrome Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofrontonasal dysplasia-poland anomaly syndrome -MONDO:0015465 MONDO:equivalentTo Orphanet:1522 craniometaphyseal dysplasia Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniometaphyseal dysplasia -MONDO:0015466 MONDO:equivalentTo Orphanet:1525 cranio-osteoarthropathy Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranio-osteoarthropathy -MONDO:0015467 MONDO:equivalentTo Orphanet:1527 craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis, philadelphia type -MONDO:0015469 MONDO:equivalentTo Orphanet:1531 craniosynostosis Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis -MONDO:0015471 MONDO:equivalentTo Orphanet:1544 benign focal seizures of adolescence Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign focal seizures of adolescence -MONDO:0015473 MONDO:equivalentTo Orphanet:1548 cryptorchidism-arachnodactyly-intellectual disability syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptorchidism-arachnodactyly-intellectual disability syndrome -MONDO:0015476 MONDO:equivalentTo Orphanet:155835 cysts and fistulae of the face and oral cavity Cysts and fistulae of the face and oral cavity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysts and fistulae of the face and oral cavity -MONDO:0015477 MONDO:equivalentTo Orphanet:155838 pinnae fistula or cyst Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinnae fistula or cyst -MONDO:0015478 MONDO:equivalentTo Orphanet:155867 paramedian facial cleft Paramedian facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramedian facial cleft -MONDO:0015479 MONDO:equivalentTo Orphanet:155878 submucosal cleft palate Submucosal cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label submucosal cleft palate -MONDO:0015480 MONDO:equivalentTo Orphanet:155884 coloboma of superior eyelid Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of superior eyelid -MONDO:0015481 MONDO:equivalentTo Orphanet:155889 coloboma of inferior eyelid Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of inferior eyelid -MONDO:0015483 MONDO:equivalentTo Orphanet:155899 mandibulofacial dysostosis Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis -MONDO:0015484 MONDO:equivalentTo Orphanet:1560 cysticercosis Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis -MONDO:0015491 MONDO:equivalentTo Orphanet:156149 immune complex mediated vasculitis Immune complex mediated vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune complex mediated vasculitis -MONDO:0015492 MONDO:equivalentTo Orphanet:156152 anti-neutrophil cytoplasmic antibody-associated vasculitis Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-neutrophil cytoplasmic antibody-associated vasculitis -MONDO:0015494 MONDO:equivalentTo Orphanet:156159 isolated dystonia Isolated dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dystonia -MONDO:0015496 MONDO:equivalentTo Orphanet:156207 macroglossia Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia -MONDO:0015497 MONDO:equivalentTo Orphanet:156212 hypoglossia/aglossia Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoglossia/aglossia -MONDO:0015498 MONDO:equivalentTo Orphanet:156215 oromandibular-limb anomalies syndrome Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular-limb anomalies syndrome -MONDO:0015499 MONDO:equivalentTo Orphanet:156224 paralytic facial malformation Paralytic facial malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic facial malformation -MONDO:0015500 MONDO:equivalentTo Orphanet:156230 facial arteriovenous malformation Facial arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial arteriovenous malformation -MONDO:0015515 MONDO:equivalentTo Orphanet:157 carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyltransferase ii deficiency -MONDO:0015516 MONDO:equivalentTo Orphanet:1570 symbrachydactyly of hands and feet Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symbrachydactyly of hands and feet -MONDO:0015517 MONDO:equivalentTo Orphanet:1572 common variable immunodeficiency Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency -MONDO:0015518 MONDO:equivalentTo Orphanet:1576 infantile bilateral striatal necrosis Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile bilateral striatal necrosis -MONDO:0015519 MONDO:equivalentTo Orphanet:157713 congenital or early infantile CACH syndrome Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital or early infantile cach syndrome -MONDO:0015520 MONDO:equivalentTo Orphanet:157716 late infantile CACH syndrome Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late infantile cach syndrome -MONDO:0015521 MONDO:equivalentTo Orphanet:157719 juvenile or adult CACH syndrome Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile or adult cach syndrome -MONDO:0015523 MONDO:equivalentTo Orphanet:157791 epithelioid hemangioendothelioma Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid hemangioendothelioma -MONDO:0015525 MONDO:equivalentTo Orphanet:157808 congenital pseudoarthrosis of the limbs Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the limbs -MONDO:0015526 MONDO:equivalentTo Orphanet:157820 cold-induced sweating syndrome Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cold-induced sweating syndrome -MONDO:0015528 MONDO:equivalentTo Orphanet:157826 congenital epulis Congenital epulis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital epulis -MONDO:0015529 MONDO:equivalentTo Orphanet:157835 paroxysmal Hemicrania Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal hemicrania -MONDO:0015530 MONDO:equivalentTo Orphanet:157843 trigeminal autonomic cephalalgia Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal autonomic cephalalgia -MONDO:0015531 MONDO:equivalentTo Orphanet:157987 non-Langerhans cell histiocytosis Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-langerhans cell histiocytosis -MONDO:0015532 MONDO:equivalentTo Orphanet:157991 generalized eruptive histiocytosis Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized eruptive histiocytosis -MONDO:0015533 MONDO:equivalentTo Orphanet:157997 benign cephalic histiocytosis Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign cephalic histiocytosis -MONDO:0015534 MONDO:equivalentTo Orphanet:158000 juvenile xanthogranuloma Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile xanthogranuloma -MONDO:0015535 MONDO:equivalentTo Orphanet:158003 xanthoma disseminatum Xanthoma disseminatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthoma disseminatum -MONDO:0015536 MONDO:equivalentTo Orphanet:158008 papular xanthoma Papular xanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular xanthoma -MONDO:0015537 MONDO:equivalentTo Orphanet:158011 necrobiotic xanthogranuloma Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrobiotic xanthogranuloma -MONDO:0015539 MONDO:equivalentTo Orphanet:158022 progressive nodular histiocytosis Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive nodular histiocytosis -MONDO:0015540 MONDO:equivalentTo Orphanet:158032 hemophagocytic syndrome Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophagocytic syndrome -MONDO:0015542 MONDO:equivalentTo Orphanet:158041 secondary hemophagocytic lymphohistiocytosis Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hemophagocytic lymphohistiocytosis -MONDO:0015544 MONDO:equivalentTo Orphanet:158057 acquired hemophagocytic lymphohistiocytosis associated with malignant disease Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophagocytic lymphohistiocytosis associated with malignant disease -MONDO:0015545 MONDO:equivalentTo Orphanet:158061 macrophage activation syndrome Macrophage activation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrophage activation syndrome -MONDO:0015548 MONDO:equivalentTo Orphanet:158266 Huntington disease-like syndrome Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like syndrome -MONDO:0015554 MONDO:equivalentTo Orphanet:158766 typical urticaria pigmentosa Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typical urticaria pigmentosa -MONDO:0015555 MONDO:equivalentTo Orphanet:158769 plaque-form urticaria pigmentosa Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plaque-form urticaria pigmentosa -MONDO:0015556 MONDO:equivalentTo Orphanet:158772 nodular urticaria pigmentosa Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular urticaria pigmentosa -MONDO:0015558 MONDO:equivalentTo Orphanet:158778 isolated bone marrow mastocytosis Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated bone marrow mastocytosis -MONDO:0015564 MONDO:equivalentTo Orphanet:160 Castleman disease Castleman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label castleman disease -MONDO:0015565 MONDO:equivalentTo Orphanet:160148 cap polyposis Cap polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cap polyposis -MONDO:0015566 MONDO:equivalentTo Orphanet:1617 2q24 microdeletion syndrome 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q24 microdeletion syndrome -MONDO:0015567 MONDO:equivalentTo Orphanet:162 cataract-glaucoma syndrome Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-glaucoma syndrome -MONDO:0015568 MONDO:equivalentTo Orphanet:162516 isolated congenital nasal pyriform aperture stenosis Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital nasal pyriform aperture stenosis -MONDO:0015570 MONDO:equivalentTo Orphanet:162526 isolated congenital auditory ossicle malformation Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital auditory ossicle malformation -MONDO:0015571 MONDO:equivalentTo Orphanet:1627 deletion 5q35 Deletion 5q35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deletion 5q35 -MONDO:0015573 MONDO:equivalentTo Orphanet:163525 subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus -MONDO:0015574 MONDO:equivalentTo Orphanet:163531 chronic cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic cutaneous lupus erythematosus -MONDO:0015579 MONDO:equivalentTo Orphanet:163596 Hb Bart's hydrops fetalis Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hb bart's hydrops fetalis -MONDO:0015580 MONDO:equivalentTo Orphanet:1636 distal monosomy 7q36 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal monosomy 7q36 -MONDO:0015583 MONDO:equivalentTo Orphanet:163693 2p21 microdeletion syndrome 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p21 microdeletion syndrome -MONDO:0015584 MONDO:equivalentTo Orphanet:163703 febrile infection-related epilepsy syndrome Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label febrile infection-related epilepsy syndrome -MONDO:0015585 MONDO:equivalentTo Orphanet:163708 cryptogenic late-onset epileptic spasms Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic late-onset epileptic spasms -MONDO:0015587 MONDO:equivalentTo Orphanet:163721 rolandic epilepsy-speech dyspraxia syndrome Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rolandic epilepsy-speech dyspraxia syndrome -MONDO:0015595 MONDO:equivalentTo Orphanet:163921 posttransplant acute limbic encephalitis Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posttransplant acute limbic encephalitis -MONDO:0015597 MONDO:equivalentTo Orphanet:163927 pustulosis palmaris et plantaris Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris -MONDO:0015599 MONDO:equivalentTo Orphanet:163934 atopic keratoconjunctivitis Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atopic keratoconjunctivitis -MONDO:0015600 MONDO:equivalentTo Orphanet:163971 X-linked intellectual disability, Cilliers type X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cilliers type -MONDO:0015601 MONDO:equivalentTo Orphanet:163976 X-linked intellectual disability, van Esch type X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, van esch type -MONDO:0015606 MONDO:equivalentTo Orphanet:1643 Xp22.3 microdeletion syndrome Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xp22.3 microdeletion syndrome -MONDO:0015607 MONDO:equivalentTo Orphanet:1646 partial chromosome Y deletion Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial chromosome y deletion -MONDO:0015608 MONDO:equivalentTo Orphanet:164726 acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to radiation -MONDO:0015611 MONDO:equivalentTo Orphanet:165 neutral lipid storage disease Neutral lipid storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutral lipid storage disease -MONDO:0015612 MONDO:equivalentTo Orphanet:1652 Dent disease Dent disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease -MONDO:0015613 MONDO:equivalentTo Orphanet:1653 dentin dysplasia Dentin dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia -MONDO:0015614 MONDO:equivalentTo Orphanet:1656 dermatitis herpetiformis Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis -MONDO:0015619 MONDO:equivalentTo Orphanet:165704 non-syndromic urogenital tract malformation Non-syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic urogenital tract malformation -MONDO:0015620 MONDO:equivalentTo Orphanet:165707 syndromic urogenital tract malformation Syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic urogenital tract malformation -MONDO:0015622 MONDO:equivalentTo Orphanet:165955 wound myiasis Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis -MONDO:0015623 MONDO:equivalentTo Orphanet:165958 cavitary myiasis Cavitary myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cavitary myiasis -MONDO:0015624 MONDO:equivalentTo Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism Diazoxide-sensitive diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-sensitive diffuse hyperinsulinism -MONDO:0015625 MONDO:equivalentTo Orphanet:165988 diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant diffuse hyperinsulinism -MONDO:0015627 MONDO:equivalentTo Orphanet:166002 multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia due to collagen 9 anomaly -MONDO:0015628 MONDO:equivalentTo Orphanet:166084 von Willebrand disease type 2A Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2a -MONDO:0015629 MONDO:equivalentTo Orphanet:166087 von Willebrand disease type 2B Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2b -MONDO:0015630 MONDO:equivalentTo Orphanet:166090 von Willebrand disease type 2M Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2m -MONDO:0015631 MONDO:equivalentTo Orphanet:166093 von Willebrand disease type 2N Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2n -MONDO:0015632 MONDO:equivalentTo Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fastkd2-related infantile mitochondrial encephalomyopathy -MONDO:0015634 MONDO:equivalentTo Orphanet:166119 isolated osteopoikilosis Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated osteopoikilosis -MONDO:0015635 MONDO:equivalentTo Orphanet:166286 porokeratotic eccrine ostial and dermal duct nevus Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratotic eccrine ostial and dermal duct nevus -MONDO:0015636 MONDO:equivalentTo Orphanet:166291 dirofilariasis Dirofilariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dirofilariasis -MONDO:0015637 MONDO:equivalentTo Orphanet:166295 benign non-familial infantile seizures Benign non-familial infantile seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign non-familial infantile seizures -MONDO:0015638 MONDO:equivalentTo Orphanet:166299 benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial epilepsy of infancy with complex partial seizures -MONDO:0015639 MONDO:equivalentTo Orphanet:166302 benign partial epilepsy with secondarily generalized seizures in infancy Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial epilepsy with secondarily generalized seizures in infancy -MONDO:0015640 MONDO:equivalentTo Orphanet:166305 benign infantile seizures associated with mild gastroenteritis Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign infantile seizures associated with mild gastroenteritis -MONDO:0015642 MONDO:equivalentTo Orphanet:166311 benign partial infantile seizures Benign partial infantile seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial infantile seizures -MONDO:0015643 MONDO:equivalentTo Orphanet:166409 photosensitive epilepsy Photosensitive epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label photosensitive epilepsy -MONDO:0015644 MONDO:equivalentTo Orphanet:166415 audiogenic seizures Audiogenic seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label audiogenic seizures -MONDO:0015646 MONDO:equivalentTo Orphanet:166421 orgasm-induced seizures Orgasm-induced seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orgasm-induced seizures -MONDO:0015647 MONDO:equivalentTo Orphanet:166424 thinking seizures Thinking seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thinking seizures -MONDO:0015648 MONDO:equivalentTo Orphanet:166427 startle epilepsy Startle epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label startle epilepsy -MONDO:0015649 MONDO:equivalentTo Orphanet:166430 micturation-induced seizures Micturation-induced seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label micturation-induced seizures -MONDO:0015650 MONDO:equivalentTo Orphanet:166463 epilepsy syndrome Epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy syndrome -MONDO:0015660 MONDO:equivalentTo Orphanet:1665 sporadic fetal brain disruption sequence Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic fetal brain disruption sequence -MONDO:0015661 MONDO:equivalentTo Orphanet:1666 dextrocardia Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia -MONDO:0015663 MONDO:equivalentTo Orphanet:1672 diencephalic syndrome Diencephalic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diencephalic syndrome -MONDO:0015664 MONDO:equivalentTo Orphanet:1676 idiopathic pulmonary artery dilatation Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pulmonary artery dilatation -MONDO:0015665 MONDO:equivalentTo Orphanet:167635 scleromyxedema Scleromyxedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromyxedema -MONDO:0015666 MONDO:equivalentTo Orphanet:1677 familial idiopathic dilatation of the right atrium Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial idiopathic dilatation of the right atrium -MONDO:0015672 MONDO:equivalentTo Orphanet:1681 diprosopus Diprosopus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diprosopus -MONDO:0015674 MONDO:equivalentTo Orphanet:168491 late infantile neuronal ceroid lipofuscinosis Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late infantile neuronal ceroid lipofuscinosis -MONDO:0015675 MONDO:equivalentTo Orphanet:1685 distomatosis Distomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distomatosis -MONDO:0015677 MONDO:equivalentTo Orphanet:1686 cardiac diverticulum Cardiac diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac diverticulum -MONDO:0015678 MONDO:equivalentTo Orphanet:168621 dysplasia of head of femur, Meyer type Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplasia of head of femur, meyer type -MONDO:0015681 MONDO:equivalentTo Orphanet:168782 childhood disintegrative disorder Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood disintegrative disorder -MONDO:0015686 MONDO:equivalentTo Orphanet:168829 primary peritoneal carcinoma Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary peritoneal carcinoma -MONDO:0015687 MONDO:equivalentTo Orphanet:168940 chronic eosinophilic leukemia Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic eosinophilic leukemia -MONDO:0015688 MONDO:equivalentTo Orphanet:168943 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2 -MONDO:0015691 MONDO:equivalentTo Orphanet:168956 hypereosinophilic syndrome Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome -MONDO:0015692 MONDO:equivalentTo Orphanet:168960 refractory anemia with excess blasts in transformation Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractory anemia with excess blasts in transformation -MONDO:0015694 MONDO:equivalentTo Orphanet:168999 malignant melanoma of the mucosa Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant melanoma of the mucosa -MONDO:0015695 MONDO:equivalentTo Orphanet:169090 combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to crac channel dysfunction -MONDO:0015696 MONDO:equivalentTo Orphanet:169105 Good syndrome Good syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label good syndrome -MONDO:0015697 MONDO:equivalentTo Orphanet:169110 immunoglobulin heavy chain deficiency Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin heavy chain deficiency -MONDO:0015698 MONDO:equivalentTo Orphanet:169139 transient hypogammaglobulinemia of infancy Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient hypogammaglobulinemia of infancy -MONDO:0015699 MONDO:equivalentTo Orphanet:169147 immunodeficiency due to a classical component pathway complement deficiency Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to a classical component pathway complement deficiency -MONDO:0015700 MONDO:equivalentTo Orphanet:169150 immunodeficiency due to a late component of complement deficiency Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to a late component of complement deficiency -MONDO:0015701 MONDO:equivalentTo Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to il-7ralpha deficiency -MONDO:0015702 MONDO:equivalentTo Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to cd45 deficiency -MONDO:0015703 MONDO:equivalentTo Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta -MONDO:0015704 MONDO:equivalentTo Orphanet:169163 familial scaphocephaly syndrome Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial scaphocephaly syndrome -MONDO:0015705 MONDO:equivalentTo Orphanet:169186 autosomal recessive centronuclear myopathy Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive centronuclear myopathy -MONDO:0015706 MONDO:equivalentTo Orphanet:1692 mosaic trisomy 1 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 1 -MONDO:0015708 MONDO:equivalentTo Orphanet:169349 immuno-osseous dysplasia Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immuno-osseous dysplasia -MONDO:0015715 MONDO:equivalentTo Orphanet:169793 severe hemophilia B Severe hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hemophilia b -MONDO:0015717 MONDO:equivalentTo Orphanet:169799 mild hemophilia B Mild hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hemophilia b -MONDO:0015718 MONDO:equivalentTo Orphanet:1698 mosaic trisomy 12 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 12 -MONDO:0015719 MONDO:equivalentTo Orphanet:169802 severe hemophilia A Severe hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hemophilia a -MONDO:0015721 MONDO:equivalentTo Orphanet:169808 mild hemophilia A Mild hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hemophilia a -MONDO:0015722 MONDO:equivalentTo Orphanet:169826 congenital vitamin K-dependent coagulation factors deficiency Congenital vitamin K-dependent coagulation factors deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vitamin k-dependent coagulation factors deficiency -MONDO:0015723 MONDO:equivalentTo Orphanet:1699 trisomy 12p Trisomy 12p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 12p -MONDO:0015725 MONDO:equivalentTo Orphanet:1703 mosaic trisomy 14 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 14 -MONDO:0015727 MONDO:equivalentTo Orphanet:1706 mosaic trisomy 15 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 15 -MONDO:0015729 MONDO:equivalentTo Orphanet:1708 mosaic trisomy 16 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 16 -MONDO:0015730 MONDO:equivalentTo Orphanet:1711 mosaic trisomy 17 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 17 -MONDO:0015734 MONDO:equivalentTo Orphanet:171220 rectal duplication Rectal duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal duplication -MONDO:0015735 MONDO:equivalentTo Orphanet:171430 severe congenital nemaline myopathy Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital nemaline myopathy -MONDO:0015736 MONDO:equivalentTo Orphanet:171433 intermediate nemaline myopathy Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate nemaline myopathy -MONDO:0015737 MONDO:equivalentTo Orphanet:171436 typical nemaline myopathy Typical nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typical nemaline myopathy -MONDO:0015738 MONDO:equivalentTo Orphanet:171439 childhood-onset nemaline myopathy Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset nemaline myopathy -MONDO:0015739 MONDO:equivalentTo Orphanet:171442 adult-onset nemaline myopathy Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset nemaline myopathy -MONDO:0015740 MONDO:equivalentTo Orphanet:1715 trisomy 18p Trisomy 18p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 18p -MONDO:0015743 MONDO:equivalentTo Orphanet:171684 idiopathic bilateral vestibulopathy Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic bilateral vestibulopathy -MONDO:0015745 MONDO:equivalentTo Orphanet:171703 microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-polymicrogyria-corpus callosum agenesis syndrome -MONDO:0015746 MONDO:equivalentTo Orphanet:171709 male infertility due to globozoospermia Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to globozoospermia -MONDO:0015751 MONDO:equivalentTo Orphanet:171839 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome -MONDO:0015753 MONDO:equivalentTo Orphanet:171881 cap myopathy Cap myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cap myopathy -MONDO:0015755 MONDO:equivalentTo Orphanet:171889 myopathy with hexagonally cross-linked tubular arrays Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy with hexagonally cross-linked tubular arrays -MONDO:0015756 MONDO:equivalentTo Orphanet:171895 myeloid hemopathy Myeloid hemopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid hemopathy -MONDO:0015757 MONDO:equivalentTo Orphanet:171898 lymphoid hemopathy Lymphoid hemopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid hemopathy -MONDO:0015758 MONDO:equivalentTo Orphanet:171901 primary cutaneous T-cell lymphoma Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous t-cell lymphoma -MONDO:0015759 MONDO:equivalentTo Orphanet:171915 B-cell non-Hodgkin lymphoma B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell non-hodgkin lymphoma -MONDO:0015760 MONDO:equivalentTo Orphanet:171918 T-cell non-Hodgkin lymphoma T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma -MONDO:0015761 MONDO:equivalentTo Orphanet:171929 trisomy 10p Trisomy 10p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 10p -MONDO:0015762 MONDO:equivalentTo Orphanet:172 progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis -MONDO:0015763 MONDO:equivalentTo Orphanet:1723 mosaic trisomy 2 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 2 -MONDO:0015764 MONDO:equivalentTo Orphanet:1724 mosaic trisomy 20 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 20 -MONDO:0015765 MONDO:equivalentTo Orphanet:172976 congenital myopathy with cores Congenital myopathy with cores semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with cores -MONDO:0015766 MONDO:equivalentTo Orphanet:173 cholera Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera -MONDO:0015767 MONDO:equivalentTo Orphanet:1738 trisomy 4p Trisomy 4p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 4p -MONDO:0015768 MONDO:equivalentTo Orphanet:1742 trisomy 5p Trisomy 5p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 5p -MONDO:0015770 MONDO:equivalentTo Orphanet:174590 congenital hypogonadotropic hypogonadism Congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypogonadotropic hypogonadism -MONDO:0015771 MONDO:equivalentTo Orphanet:1747 mosaic trisomy 7 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 7 -MONDO:0015772 MONDO:equivalentTo Orphanet:1752 trisomy 8q Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 8q -MONDO:0015773 MONDO:equivalentTo Orphanet:1757 fibular dimelia-diplopodia syndrome Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular dimelia-diplopodia syndrome -MONDO:0015774 MONDO:equivalentTo Orphanet:1759 thoraco-abdominal enteric duplication Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoraco-abdominal enteric duplication -MONDO:0015775 MONDO:equivalentTo Orphanet:176 non-rhizomelic chondrodysplasia punctata Non-rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-rhizomelic chondrodysplasia punctata -MONDO:0015776 MONDO:equivalentTo Orphanet:177 rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata -MONDO:0015779 MONDO:equivalentTo Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 45,x/46,xy mixed gonadal dysgenesis -MONDO:0015780 MONDO:equivalentTo Orphanet:1775 dyskeratosis congenita Dyskeratosis congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita -MONDO:0015781 MONDO:equivalentTo Orphanet:1778 facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-shawl scrotum-joint laxity syndrome -MONDO:0015782 MONDO:equivalentTo Orphanet:1779 dysmorphism-cleft palate-loose skin syndrome Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-cleft palate-loose skin syndrome -MONDO:0015783 MONDO:equivalentTo Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal deletion of 15q11q13 type 1 -MONDO:0015784 MONDO:equivalentTo Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal deletion of 15q11q13 type 2 -MONDO:0015785 MONDO:equivalentTo Orphanet:177907 Prader-Willi syndrome due to translocation Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to translocation -MONDO:0015786 MONDO:equivalentTo Orphanet:177910 Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to imprinting mutation -MONDO:0015790 MONDO:equivalentTo Orphanet:178029 central diabetes insipidus Central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central diabetes insipidus -MONDO:0015792 MONDO:equivalentTo Orphanet:178045 transient congenital hypothyroidism Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism -MONDO:0015793 MONDO:equivalentTo Orphanet:178145 moderate multiminicore disease with hand involvement Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moderate multiminicore disease with hand involvement -MONDO:0015794 MONDO:equivalentTo Orphanet:178148 antenatal multiminicore disease with arthrogryposis multiplex congenita Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antenatal multiminicore disease with arthrogryposis multiplex congenita -MONDO:0015795 MONDO:equivalentTo Orphanet:178315 undifferentiated embryonal sarcoma of the liver Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated embryonal sarcoma of the liver -MONDO:0015796 MONDO:equivalentTo Orphanet:178320 acute lung injury Acute lung injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lung injury -MONDO:0015797 MONDO:equivalentTo Orphanet:178338 UV-sensitive syndrome UV-sensitive syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome -MONDO:0015798 MONDO:equivalentTo Orphanet:178342 inflammatory myofibroblastic tumor Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory myofibroblastic tumor -MONDO:0015799 MONDO:equivalentTo Orphanet:178355 Smith-McCort dysplasia Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia -MONDO:0015800 MONDO:equivalentTo Orphanet:178377 osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerosis-developmental delay-craniosynostosis syndrome -MONDO:0015801 MONDO:equivalentTo Orphanet:178396 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation -MONDO:0015802 MONDO:equivalentTo Orphanet:178469 autosomal dominant non-syndromic intellectual disability Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant non-syndromic intellectual disability -MONDO:0015803 MONDO:equivalentTo Orphanet:178475 wound botulism Wound botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound botulism -MONDO:0015804 MONDO:equivalentTo Orphanet:178478 infant botulism Infant botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infant botulism -MONDO:0015805 MONDO:equivalentTo Orphanet:178481 intestinal botulism Intestinal botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal botulism -MONDO:0015806 MONDO:equivalentTo Orphanet:178487 adult intestinal botulism Adult intestinal botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult intestinal botulism -MONDO:0015807 MONDO:equivalentTo Orphanet:178493 myopic macular degeneration Myopic macular degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopic macular degeneration -MONDO:0015808 MONDO:equivalentTo Orphanet:178512 folliculotropic mycosis fungoides Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label folliculotropic mycosis fungoides -MONDO:0015809 MONDO:equivalentTo Orphanet:178517 localized pagetoid reticulosis Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized pagetoid reticulosis -MONDO:0015810 MONDO:equivalentTo Orphanet:178522 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma -MONDO:0015811 MONDO:equivalentTo Orphanet:178528 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma -MONDO:0015812 MONDO:equivalentTo Orphanet:178533 primary cutaneous gamma/delta-positive T-cell lymphoma Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma/delta-positive t-cell lymphoma -MONDO:0015813 MONDO:equivalentTo Orphanet:178536 primary cutaneous marginal zone B-cell lymphoma Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous marginal zone b-cell lymphoma -MONDO:0015814 MONDO:equivalentTo Orphanet:178540 primary cutaneous follicle center lymphoma Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous follicle center lymphoma -MONDO:0015816 MONDO:equivalentTo Orphanet:178548 indolent primary cutaneous T-cell lymphoma Indolent primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent primary cutaneous t-cell lymphoma -MONDO:0015819 MONDO:equivalentTo Orphanet:178557 indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent primary cutaneous b-cell lymphoma -MONDO:0015820 MONDO:equivalentTo Orphanet:178563 primary cutaneous B-cell lymphoma Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous b-cell lymphoma -MONDO:0015821 MONDO:equivalentTo Orphanet:178566 mycosis fungoides and variants Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides and variants -MONDO:0015824 MONDO:equivalentTo Orphanet:1794 oculomaxillofacial dysostosis Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculomaxillofacial dysostosis -MONDO:0015826 MONDO:equivalentTo Orphanet:1797 autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant spondylocostal dysostosis -MONDO:0015827 MONDO:equivalentTo Orphanet:18 distal renal tubular acidosis Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis -MONDO:0015832 MONDO:equivalentTo Orphanet:180074 true unicornuate uterus True unicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label true unicornuate uterus -MONDO:0015833 MONDO:equivalentTo Orphanet:180079 pseudounicornuate uterus Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudounicornuate uterus -MONDO:0015834 MONDO:equivalentTo Orphanet:180086 didelphys uterus Didelphys uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label didelphys uterus -MONDO:0015835 MONDO:equivalentTo Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicervical bicornuate uterus and blind hemivagina -MONDO:0015836 MONDO:equivalentTo Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicervical bicornuate uterus with patent cervix and vagina -MONDO:0015839 MONDO:equivalentTo Orphanet:180122 septate uterus Septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label septate uterus -MONDO:0015840 MONDO:equivalentTo Orphanet:180126 complete septate uterus Complete septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete septate uterus -MONDO:0015841 MONDO:equivalentTo Orphanet:180129 partial septate uterus Partial septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial septate uterus -MONDO:0015842 MONDO:equivalentTo Orphanet:180134 bicornuate uterus Bicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicornuate uterus -MONDO:0015843 MONDO:equivalentTo Orphanet:180139 uterine hypoplasia Uterine hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uterine hypoplasia -MONDO:0015845 MONDO:equivalentTo Orphanet:180145 uterine cervical aplasia and agenesis Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uterine cervical aplasia and agenesis -MONDO:0015849 MONDO:equivalentTo Orphanet:180157 longitudinal vaginal septum Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label longitudinal vaginal septum -MONDO:0015850 MONDO:equivalentTo Orphanet:180160 transverse vaginal septum Transverse vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transverse vaginal septum -MONDO:0015854 MONDO:equivalentTo Orphanet:180182 supernumerary breasts Supernumerary breasts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supernumerary breasts -MONDO:0015855 MONDO:equivalentTo Orphanet:180188 isolated congenital breast hypoplasia/aplasia Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital breast hypoplasia/aplasia -MONDO:0015856 MONDO:equivalentTo Orphanet:180193 syndromic breast hypoplasia/aplasia Syndromic breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic breast hypoplasia/aplasia -MONDO:0015863 MONDO:equivalentTo Orphanet:180229 polyembryoma Polyembryoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyembryoma -MONDO:0015864 MONDO:equivalentTo Orphanet:180234 mixed germ cell tumor Mixed germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed germ cell tumor -MONDO:0015867 MONDO:equivalentTo Orphanet:180247 vaginal carcinoma Vaginal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal carcinoma -MONDO:0015872 MONDO:equivalentTo Orphanet:180267 giant adenofibroma of the breast Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant adenofibroma of the breast -MONDO:0015873 MONDO:equivalentTo Orphanet:180275 Paget disease of the nipple Paget disease of the nipple semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paget disease of the nipple -MONDO:0015883 MONDO:equivalentTo Orphanet:1809 hidrotic ectodermal dysplasia, Halal type Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrotic ectodermal dysplasia, halal type -MONDO:0015884 MONDO:equivalentTo Orphanet:1810 autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypohidrotic ectodermal dysplasia -MONDO:0015892 MONDO:equivalentTo Orphanet:181393 growth hormone insensitivity syndrome Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth hormone insensitivity syndrome -MONDO:0015898 MONDO:equivalentTo Orphanet:181412 adrenogenital syndrome Adrenogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenogenital syndrome -MONDO:0015903 MONDO:equivalentTo Orphanet:181428 hyperalphalipoproteinemia Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperalphalipoproteinemia -MONDO:0015908 MONDO:equivalentTo Orphanet:182 chromomycosis Chromomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromomycosis -MONDO:0015914 MONDO:equivalentTo Orphanet:182058 primary orthostatic hypotension Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary orthostatic hypotension -MONDO:0015923 MONDO:equivalentTo Orphanet:182086 acquired peripheral neuropathy Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired peripheral neuropathy -MONDO:0015924 MONDO:equivalentTo Orphanet:182090 pulmonary arterial hypertension Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary arterial hypertension -MONDO:0015925 MONDO:equivalentTo Orphanet:182095 interstitial lung disease Interstitial lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease -MONDO:0015926 MONDO:equivalentTo Orphanet:182098 pneumoconiosis Pneumoconiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumoconiosis -MONDO:0015927 MONDO:equivalentTo Orphanet:182101 idiopathic eosinophilic pneumonia Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic eosinophilic pneumonia -MONDO:0015929 MONDO:equivalentTo Orphanet:182108 thoracic malformation Thoracic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic malformation -MONDO:0015935 MONDO:equivalentTo Orphanet:182127 extragonadal germinoma Extragonadal germinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal germinoma -MONDO:0015941 MONDO:equivalentTo Orphanet:1825 epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphyseal dysplasia-hearing loss-dysmorphism syndrome -MONDO:0015942 MONDO:equivalentTo Orphanet:1826 frontometaphyseal dysplasia Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontometaphyseal dysplasia -MONDO:0015943 MONDO:equivalentTo Orphanet:183 eosinophilic granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic granulomatosis with polyangiitis -MONDO:0015944 MONDO:equivalentTo Orphanet:1834 axial mesodermal dysplasia spectrum Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial mesodermal dysplasia spectrum -MONDO:0015947 MONDO:equivalentTo Orphanet:183435 inherited ichthyosis Inherited ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited ichthyosis -MONDO:0015974 MONDO:equivalentTo Orphanet:183660 severe combined immunodeficiency Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency -MONDO:0015977 MONDO:equivalentTo Orphanet:183669 agammaglobulinemia Agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agammaglobulinemia -MONDO:0015978 MONDO:equivalentTo Orphanet:183681 functional neutrophil defect Functional neutrophil defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label functional neutrophil defect -MONDO:0015987 MONDO:equivalentTo Orphanet:185 scimitar syndrome Scimitar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scimitar syndrome -MONDO:0015988 MONDO:equivalentTo Orphanet:1851 multicystic dysplastic kidney Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicystic dysplastic kidney -MONDO:0015990 MONDO:equivalentTo Orphanet:1866 focal, segmental or multifocal dystonia Focal, segmental or multifocal dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal, segmental or multifocal dystonia -MONDO:0015991 MONDO:equivalentTo Orphanet:187 citrullinemia Citrullinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia -MONDO:0015995 MONDO:equivalentTo Orphanet:1879 melorheostosis with osteopoikilosis Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melorheostosis with osteopoikilosis -MONDO:0015997 MONDO:equivalentTo Orphanet:1884 ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopia lentis-chorioretinal dystrophy-myopia syndrome -MONDO:0015998 MONDO:equivalentTo Orphanet:1885 isolated ectopia lentis Isolated ectopia lentis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated ectopia lentis -MONDO:0016000 MONDO:equivalentTo Orphanet:189466 familial isolated hypoparathyroidism due to impaired PTH secretion Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hypoparathyroidism due to impaired pth secretion -MONDO:0016001 MONDO:equivalentTo Orphanet:19 2-hydroxyglutaric aciduria 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-hydroxyglutaric aciduria -MONDO:0016003 MONDO:equivalentTo Orphanet:1902 ehrlichiosis Ehrlichiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehrlichiosis -MONDO:0016004 MONDO:equivalentTo Orphanet:1908 aminopterin/methotrexate embryofetopathy Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aminopterin/methotrexate embryofetopathy -MONDO:0016005 MONDO:equivalentTo Orphanet:1909 indomethacin embryofetopathy Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indomethacin embryofetopathy -MONDO:0016006 MONDO:equivalentTo Orphanet:191 Cockayne syndrome Cockayne syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome -MONDO:0016007 MONDO:equivalentTo Orphanet:1911 cocaine embryofetopathy Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine embryofetopathy -MONDO:0016008 MONDO:equivalentTo Orphanet:1912 fetal hydantoin syndrome Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome -MONDO:0016009 MONDO:equivalentTo Orphanet:1913 fetal trimethadione syndrome Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal trimethadione syndrome -MONDO:0016011 MONDO:equivalentTo Orphanet:1915 fetal alcohol syndrome Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal alcohol syndrome -MONDO:0016012 MONDO:equivalentTo Orphanet:1916 diethylstilbestrol syndrome Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diethylstilbestrol syndrome -MONDO:0016013 MONDO:equivalentTo Orphanet:1917 fetal methylmercury syndrome Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal methylmercury syndrome -MONDO:0016014 MONDO:equivalentTo Orphanet:1918 fetal minoxidil syndrome Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal minoxidil syndrome -MONDO:0016015 MONDO:equivalentTo Orphanet:1919 phenobarbital embryopathy Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phenobarbital embryopathy -MONDO:0016016 MONDO:equivalentTo Orphanet:1920 toluene embryopathy Toluene embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toluene embryopathy -MONDO:0016017 MONDO:equivalentTo Orphanet:1923 methimazole embryofetopathy Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methimazole embryofetopathy -MONDO:0016018 MONDO:equivalentTo Orphanet:1926 diabetic embryopathy Diabetic embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic embryopathy -MONDO:0016019 MONDO:equivalentTo Orphanet:1929 Rasmussen subacute encephalitis Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasmussen subacute encephalitis -MONDO:0016020 MONDO:equivalentTo Orphanet:1931 frontal encephalocele Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele -MONDO:0016022 MONDO:equivalentTo Orphanet:1935 early myoclonic encephalopathy Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early myoclonic encephalopathy -MONDO:0016025 MONDO:equivalentTo Orphanet:1942 myoclonic-astatic epilepsy Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-astatic epilepsy -MONDO:0016029 MONDO:equivalentTo Orphanet:1957 esthesioneuroblastoma Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esthesioneuroblastoma -MONDO:0016030 MONDO:equivalentTo Orphanet:1959 Evans syndrome Evans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label evans syndrome -MONDO:0016031 MONDO:equivalentTo Orphanet:1969 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome -MONDO:0016032 MONDO:equivalentTo Orphanet:1987 femoral agenesis/hypoplasia Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femoral agenesis/hypoplasia -MONDO:0016033 MONDO:equivalentTo Orphanet:199 Cornelia de Lange syndrome Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cornelia de lange syndrome -MONDO:0016034 MONDO:equivalentTo Orphanet:1991 cleft lip with or without cleft palate Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip with or without cleft palate -MONDO:0016035 MONDO:equivalentTo Orphanet:199244 Nelson syndrome Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome -MONDO:0016037 MONDO:equivalentTo Orphanet:199257 superficial Fibromatosis Superficial fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial fibromatosis -MONDO:0016039 MONDO:equivalentTo Orphanet:199267 infantile digital fibromatosis Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile digital fibromatosis -MONDO:0016040 MONDO:equivalentTo Orphanet:199282 harlequin syndrome Harlequin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harlequin syndrome -MONDO:0016041 MONDO:equivalentTo Orphanet:199293 congenital microgastria Congenital microgastria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital microgastria -MONDO:0016042 MONDO:equivalentTo Orphanet:199299 late-onset isolated ACTH deficiency Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset isolated acth deficiency -MONDO:0016043 MONDO:equivalentTo Orphanet:199302 isolated cleft lip Isolated cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cleft lip -MONDO:0016044 MONDO:equivalentTo Orphanet:199306 cleft lip/palate Cleft lip/palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate -MONDO:0016045 MONDO:equivalentTo Orphanet:199310 tetragametic chimerism Tetragametic chimerism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetragametic chimerism -MONDO:0016046 MONDO:equivalentTo Orphanet:199315 familial clubfoot with or without associated lower limb anomalies Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot with or without associated lower limb anomalies -MONDO:0016047 MONDO:equivalentTo Orphanet:199323 endophthalmitis Endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endophthalmitis -MONDO:0016048 MONDO:equivalentTo Orphanet:199326 isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated autosomal dominant hypomagnesemia, glaudemans type -MONDO:0016049 MONDO:equivalentTo Orphanet:199329 congenital myopathy, Paradas type Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy, paradas type -MONDO:0016051 MONDO:equivalentTo Orphanet:1995 cleft lip-retinopathy syndrome Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip-retinopathy syndrome -MONDO:0016052 MONDO:equivalentTo Orphanet:199627 atypical autism Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism -MONDO:0016053 MONDO:equivalentTo Orphanet:199630 isolated cerebellar vermis hypoplasia Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cerebellar vermis hypoplasia -MONDO:0016056 MONDO:equivalentTo Orphanet:199642 isolated congenital microcephaly Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital microcephaly -MONDO:0016057 MONDO:equivalentTo Orphanet:199647 isolated encephalocele Isolated encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated encephalocele -MONDO:0016058 MONDO:equivalentTo Orphanet:200037 paroxysmal dystonia Paroxysmal dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal dystonia -MONDO:0016059 MONDO:equivalentTo Orphanet:2003 cleft lip/palate-deafness-sacral lipoma syndrome Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-deafness-sacral lipoma syndrome -MONDO:0016060 MONDO:equivalentTo Orphanet:2004 laryngotracheoesophageal cleft Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft -MONDO:0016061 MONDO:equivalentTo Orphanet:200421 immunodeficiency with factor H anomaly Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency with factor h anomaly -MONDO:0016064 MONDO:equivalentTo Orphanet:2014 cleft palate Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate -MONDO:0016065 MONDO:equivalentTo Orphanet:2015 cleft palate-short stature-vertebral anomalies syndrome Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-short stature-vertebral anomalies syndrome -MONDO:0016066 MONDO:equivalentTo Orphanet:2017 sternal cleft Sternal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sternal cleft -MONDO:0016067 MONDO:equivalentTo Orphanet:202 Crandall syndrome Crandall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crandall syndrome -MONDO:0016068 MONDO:equivalentTo Orphanet:2021 fibrochondrogenesis Fibrochondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis -MONDO:0016070 MONDO:equivalentTo Orphanet:2024 hereditary gingival fibromatosis Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary gingival fibromatosis -MONDO:0016071 MONDO:equivalentTo Orphanet:2028 juvenile hyaline fibromatosis Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile hyaline fibromatosis -MONDO:0016075 MONDO:equivalentTo Orphanet:2034 filariasis Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis -MONDO:0016077 MONDO:equivalentTo Orphanet:2037 congenital aortopulmonary window Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aortopulmonary window -MONDO:0016078 MONDO:equivalentTo Orphanet:2039 congenital systemic arteriovenous fistula Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital systemic arteriovenous fistula -MONDO:0016079 MONDO:equivalentTo Orphanet:204 sporadic Creutzfeldt-Jakob disease Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic creutzfeldt-jakob disease -MONDO:0016083 MONDO:equivalentTo Orphanet:2045 FLOTCH syndrome FLOTCH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flotch syndrome -MONDO:0016085 MONDO:equivalentTo Orphanet:2050 Cole-Carpenter syndrome Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cole-carpenter syndrome -MONDO:0016087 MONDO:equivalentTo Orphanet:2062 progressive non-infectious anterior vertebral fusion Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-infectious anterior vertebral fusion -MONDO:0016088 MONDO:equivalentTo Orphanet:206428 hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoxanthine-guanine phosphoribosyltransferase deficiency -MONDO:0016089 MONDO:equivalentTo Orphanet:206436 infantile Krabbe disease Infantile Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile krabbe disease -MONDO:0016090 MONDO:equivalentTo Orphanet:206443 late-infantile/juvenile Krabbe disease Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-infantile/juvenile krabbe disease -MONDO:0016091 MONDO:equivalentTo Orphanet:206448 adult Krabbe disease Adult Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult krabbe disease -MONDO:0016096 MONDO:equivalentTo Orphanet:206538 malignant non-dysgerminomatous germ cell tumor of ovary Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant non-dysgerminomatous germ cell tumor of ovary -MONDO:0016097 MONDO:equivalentTo Orphanet:206546 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of muscular dystrophy of duchenne and becker in female carriers -MONDO:0016098 MONDO:equivalentTo Orphanet:206569 immune-mediated necrotizing myopathy Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune-mediated necrotizing myopathy -MONDO:0016099 MONDO:equivalentTo Orphanet:206572 overlap myositis Overlap myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overlap myositis -MONDO:0016100 MONDO:equivalentTo Orphanet:206575 rippling muscle disease with myasthenia gravis Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disease with myasthenia gravis -MONDO:0016101 MONDO:equivalentTo Orphanet:206586 neurolymphomatosis Neurolymphomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurolymphomatosis -MONDO:0016102 MONDO:equivalentTo Orphanet:206594 subacute inflammatory demyelinating polyneuropathy Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute inflammatory demyelinating polyneuropathy -MONDO:0016103 MONDO:equivalentTo Orphanet:206599 isolated asymptomatic elevation of creatine phosphokinase Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated asymptomatic elevation of creatine phosphokinase -MONDO:0016105 MONDO:equivalentTo Orphanet:206638 acquired skeletal muscle disease Acquired skeletal muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired skeletal muscle disease -MONDO:0016106 MONDO:equivalentTo Orphanet:206644 progressive muscular dystrophy Progressive muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive muscular dystrophy -MONDO:0016107 MONDO:equivalentTo Orphanet:206647 myotonic dystrophy Myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonic dystrophy -MONDO:0016108 MONDO:equivalentTo Orphanet:206650 autosomal dominant distal myopathy Autosomal dominant distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal myopathy -MONDO:0016113 MONDO:equivalentTo Orphanet:206701 bulbospinal muscular atrophy Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulbospinal muscular atrophy -MONDO:0016120 MONDO:equivalentTo Orphanet:206970 myotonic syndrome Myotonic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonic syndrome -MONDO:0016121 MONDO:equivalentTo Orphanet:206973 congenital myotonia Congenital myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myotonia -MONDO:0016122 MONDO:equivalentTo Orphanet:206976 periodic paralysis Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis -MONDO:0016126 MONDO:equivalentTo Orphanet:206991 viral myositis Viral myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral myositis -MONDO:0016127 MONDO:equivalentTo Orphanet:206994 bacterial myositis Bacterial myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bacterial myositis -MONDO:0016128 MONDO:equivalentTo Orphanet:206997 parasitic myositis Parasitic myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parasitic myositis -MONDO:0016129 MONDO:equivalentTo Orphanet:2070 eosinophilic gastroenteritis Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic gastroenteritis -MONDO:0016130 MONDO:equivalentTo Orphanet:207000 fungal myositis Fungal myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal myositis -MONDO:0016139 MONDO:equivalentTo Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases Qualitative or quantitative protein defects in neuromuscular diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016141 MONDO:equivalentTo Orphanet:207060 qualitative or quantitative defects of alpha-sarcoglycan Qualitative or quantitative defects of alpha-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-sarcoglycan -MONDO:0016142 MONDO:equivalentTo Orphanet:207063 qualitative or quantitative defects of beta-sarcoglycan Qualitative or quantitative defects of beta-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of beta-sarcoglycan -MONDO:0016143 MONDO:equivalentTo Orphanet:207067 qualitative or quantitative defects of gamma-sarcoglycan Qualitative or quantitative defects of gamma-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of gamma-sarcoglycan -MONDO:0016144 MONDO:equivalentTo Orphanet:207070 qualitative or quantitative defects of delta-sarcoglycan Qualitative or quantitative defects of delta-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of delta-sarcoglycan -MONDO:0016145 MONDO:equivalentTo Orphanet:207073 qualitative or quantitative defects of dysferlin Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of dysferlin -MONDO:0016147 MONDO:equivalentTo Orphanet:207085 qualitative or quantitative defects of dystrophin Qualitative or quantitative defects of dystrophin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of dystrophin -MONDO:0016151 MONDO:equivalentTo Orphanet:207101 qualitative or quantitative defects of perlecan Qualitative or quantitative defects of perlecan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of perlecan -MONDO:0016153 MONDO:equivalentTo Orphanet:207107 qualitative or quantitative defects of TRIM32 Qualitative or quantitative defects of TRIM32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of trim32 -MONDO:0016155 MONDO:equivalentTo Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan -MONDO:0016156 MONDO:equivalentTo Orphanet:207119 qualitative or quantitative defects of FKRP Qualitative or quantitative defects of FKRP semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of fkrp -MONDO:0016159 MONDO:equivalentTo Orphanet:2074 Gemignani syndrome Gemignani syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gemignani syndrome -MONDO:0016160 MONDO:equivalentTo Orphanet:2076 X-linked intellectual disability-epilepsy syndrome X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-epilepsy syndrome -MONDO:0016162 MONDO:equivalentTo Orphanet:208444 bilateral frontal polymicrogyria Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontal polymicrogyria -MONDO:0016163 MONDO:equivalentTo Orphanet:208508 autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type ii -MONDO:0016164 MONDO:equivalentTo Orphanet:208524 herpetiform pemphigus Herpetiform pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label herpetiform pemphigus -MONDO:0016167 MONDO:equivalentTo Orphanet:2086 optic pathway glioma Optic pathway glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic pathway glioma -MONDO:0016168 MONDO:equivalentTo Orphanet:208650 cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryopyrin-associated periodic syndrome -MONDO:0016175 MONDO:equivalentTo Orphanet:209 cutis laxa Cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis laxa -MONDO:0016176 MONDO:equivalentTo Orphanet:209004 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy -MONDO:0016184 MONDO:equivalentTo Orphanet:209030 qualitative or quantitative defects of protein O-mannosyltransferase 1 Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein o-mannosyltransferase 1 -MONDO:0016185 MONDO:equivalentTo Orphanet:209033 qualitative or quantitative defects of protein O-mannosyltransferase 2 Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein o-mannosyltransferase 2 -MONDO:0016186 MONDO:equivalentTo Orphanet:209038 qualitative or quantitative defects of myofibrillar proteins Qualitative or quantitative defects of myofibrillar proteins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of myofibrillar proteins -MONDO:0016187 MONDO:equivalentTo Orphanet:209041 qualitative or quantitative defects of desmin Qualitative or quantitative defects of desmin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of desmin -MONDO:0016188 MONDO:equivalentTo Orphanet:209044 qualitative or quantitative defects of alphaB-cristallin Qualitative or quantitative defects of alphaB-cristallin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alphab-cristallin -MONDO:0016189 MONDO:equivalentTo Orphanet:209047 qualitative or quantitative defects of filamin C Qualitative or quantitative defects of filamin C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of filamin c -MONDO:0016190 MONDO:equivalentTo Orphanet:209050 qualitative or quantitative defects of protein ZASP Qualitative or quantitative defects of protein ZASP semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein zasp -MONDO:0016191 MONDO:equivalentTo Orphanet:209053 qualitative or quantitative defects of titin Qualitative or quantitative defects of titin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of titin -MONDO:0016192 MONDO:equivalentTo Orphanet:209056 qualitative or quantitative defects of telethonin Qualitative or quantitative defects of telethonin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of telethonin -MONDO:0016193 MONDO:equivalentTo Orphanet:209059 qualitative or quantitative defects of alpha-actin Qualitative or quantitative defects of alpha-actin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-actin -MONDO:0016194 MONDO:equivalentTo Orphanet:209182 qualitative or quantitative defects of nebulin Qualitative or quantitative defects of nebulin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of nebulin -MONDO:0016195 MONDO:equivalentTo Orphanet:209185 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of beta-myosin heavy chain (myh7) -MONDO:0016197 MONDO:equivalentTo Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 Qualitative or quantitative defects of selenoprotein N1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of selenoprotein n1 -MONDO:0016198 MONDO:equivalentTo Orphanet:209196 qualitative or quantitative defects of plectin Qualitative or quantitative defects of plectin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of plectin -MONDO:0016199 MONDO:equivalentTo Orphanet:209199 qualitative or quantitative defects of protein SERCA1 Qualitative or quantitative defects of protein SERCA1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein serca1 -MONDO:0016202 MONDO:equivalentTo Orphanet:209867 autosomal dominant rhegmatogenous retinal detachment Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant rhegmatogenous retinal detachment -MONDO:0016203 MONDO:equivalentTo Orphanet:209902 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency -MONDO:0016204 MONDO:equivalentTo Orphanet:209919 idiopathic copper-associated cirrhosis Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic copper-associated cirrhosis -MONDO:0016205 MONDO:equivalentTo Orphanet:209943 IRVAN syndrome IRVAN syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irvan syndrome -MONDO:0016206 MONDO:equivalentTo Orphanet:209956 idiopathic uveal effusion syndrome Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic uveal effusion syndrome -MONDO:0016207 MONDO:equivalentTo Orphanet:209959 phacoanaphylactic uveitis Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phacoanaphylactic uveitis -MONDO:0016208 MONDO:equivalentTo Orphanet:209964 solitary rectal ulcer syndrome Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary rectal ulcer syndrome -MONDO:0016210 MONDO:equivalentTo Orphanet:209978 alternating hemiplegia Alternating hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alternating hemiplegia -MONDO:0016211 MONDO:equivalentTo Orphanet:209989 non-papillary transitional cell carcinoma of the bladder Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-papillary transitional cell carcinoma of the bladder -MONDO:0016213 MONDO:equivalentTo Orphanet:210133 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome -MONDO:0016214 MONDO:equivalentTo Orphanet:210136 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome -MONDO:0016216 MONDO:equivalentTo Orphanet:210159 adult hepatocellular carcinoma Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult hepatocellular carcinoma -MONDO:0016219 MONDO:equivalentTo Orphanet:2104 dysmorphism-pectus carinatum-joint laxity syndrome Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-pectus carinatum-joint laxity syndrome -MONDO:0016220 MONDO:equivalentTo Orphanet:210576 congenital temporomandibular joint ankylosis Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital temporomandibular joint ankylosis -MONDO:0016221 MONDO:equivalentTo Orphanet:210581 temporomandibular joint anomaly Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporomandibular joint anomaly -MONDO:0016222 MONDO:equivalentTo Orphanet:210584 spindle cell hemangioma Spindle cell hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spindle cell hemangioma -MONDO:0016223 MONDO:equivalentTo Orphanet:210589 infantile hemangioma of rare localization Infantile hemangioma of rare localization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hemangioma of rare localization -MONDO:0016225 MONDO:equivalentTo Orphanet:211047 specific learning disability Specific learning disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label specific learning disability -MONDO:0016226 MONDO:equivalentTo Orphanet:211053 specific language disorder Specific language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label specific language disorder -MONDO:0016227 MONDO:equivalentTo Orphanet:211062 hereditary episodic ataxia Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary episodic ataxia -MONDO:0016236 MONDO:equivalentTo Orphanet:2122 kaposiform hemangioendothelioma Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposiform hemangioendothelioma -MONDO:0016237 MONDO:equivalentTo Orphanet:2123 diffuse neonatal hemangiomatosis Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse neonatal hemangiomatosis -MONDO:0016238 MONDO:equivalentTo Orphanet:2126 solitary fibrous tumor Solitary fibrous tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary fibrous tumor -MONDO:0016239 MONDO:equivalentTo Orphanet:213 cystinosis Cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinosis -MONDO:0016240 MONDO:equivalentTo Orphanet:2130 hemimelia Hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimelia -MONDO:0016241 MONDO:equivalentTo Orphanet:2131 alternating hemiplegia of childhood Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alternating hemiplegia of childhood -MONDO:0016242 MONDO:equivalentTo Orphanet:2132 hemoglobin C disease Hemoglobin C disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin c disease -MONDO:0016243 MONDO:equivalentTo Orphanet:2133 hemoglobin E disease Hemoglobin E disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin e disease -MONDO:0016256 MONDO:equivalentTo Orphanet:2136 Hennekam syndrome Hennekam syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hennekam syndrome -MONDO:0016259 MONDO:equivalentTo Orphanet:213610 carcinosarcoma of the corpus uteri Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinosarcoma of the corpus uteri -MONDO:0016262 MONDO:equivalentTo Orphanet:213625 leiomyosarcoma of the corpus uteri Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma of the corpus uteri -MONDO:0016263 MONDO:equivalentTo Orphanet:213630 primitive neuroectodermal tumor of the corpus uteri Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive neuroectodermal tumor of the corpus uteri -MONDO:0016264 MONDO:equivalentTo Orphanet:2137 autoimmune hepatitis Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis -MONDO:0016266 MONDO:equivalentTo Orphanet:213716 squamous cell carcinoma of the corpus uteri Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of the corpus uteri -MONDO:0016267 MONDO:equivalentTo Orphanet:213721 undifferentiated carcinoma of the corpus uteri Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of the corpus uteri -MONDO:0016269 MONDO:equivalentTo Orphanet:213731 high-grade neuroendocrine carcinoma of the corpus uteri High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade neuroendocrine carcinoma of the corpus uteri -MONDO:0016270 MONDO:equivalentTo Orphanet:213736 low-grade neuroendocrine tumor of the corpus uteri Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low-grade neuroendocrine tumor of the corpus uteri -MONDO:0016272 MONDO:equivalentTo Orphanet:213746 transitional cell carcinoma of the corpus uteri Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transitional cell carcinoma of the corpus uteri -MONDO:0016276 MONDO:equivalentTo Orphanet:213777 high-grade neuroendocrine carcinoma of the cervix uteri High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade neuroendocrine carcinoma of the cervix uteri -MONDO:0016277 MONDO:equivalentTo Orphanet:213782 malignant mixed epithelial and mesenchymal tumor of cervix uteri Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant mixed epithelial and mesenchymal tumor of cervix uteri -MONDO:0016280 MONDO:equivalentTo Orphanet:213797 sarcoma of cervix uteri Sarcoma of cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoma of cervix uteri -MONDO:0016282 MONDO:equivalentTo Orphanet:213802 rhabdomyosarcoma of the cervix uteri Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyosarcoma of the cervix uteri -MONDO:0016283 MONDO:equivalentTo Orphanet:213807 leiomyosarcoma of the cervix uteri Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma of the cervix uteri -MONDO:0016284 MONDO:equivalentTo Orphanet:213812 primitive neuroectodermal tumor of the cervix uteri Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive neuroectodermal tumor of the cervix uteri -MONDO:0016287 MONDO:equivalentTo Orphanet:213828 adenoid basal carcinoma of the cervix uteri Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenoid basal carcinoma of the cervix uteri -MONDO:0016290 MONDO:equivalentTo Orphanet:2139 Hernández-Aguirre Negrete syndrome Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hernández-aguirre negrete syndrome -MONDO:0016291 MONDO:equivalentTo Orphanet:2145 craniosynostosis, Herrmann-Opitz type Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis, herrmann-opitz type -MONDO:0016292 MONDO:equivalentTo Orphanet:2149 nodular neuronal heterotopia Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular neuronal heterotopia -MONDO:0016293 MONDO:equivalentTo Orphanet:215 congenital stationary night blindness Congenital stationary night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stationary night blindness -MONDO:0016294 MONDO:equivalentTo Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-type d brachydactyly syndrome -MONDO:0016295 MONDO:equivalentTo Orphanet:216 neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis -MONDO:0016296 MONDO:equivalentTo Orphanet:2162 holoprosencephaly Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly -MONDO:0016299 MONDO:equivalentTo Orphanet:2165 holoprosencephaly-caudal dysgenesis syndrome Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-caudal dysgenesis syndrome -MONDO:0016301 MONDO:equivalentTo Orphanet:216694 congenitally corrected transposition of the great arteries Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally corrected transposition of the great arteries -MONDO:0016302 MONDO:equivalentTo Orphanet:216718 isolated congenitally uncorrected transposition of the great arteries Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenitally uncorrected transposition of the great arteries -MONDO:0016303 MONDO:equivalentTo Orphanet:216729 congenitally uncorrected transposition of the great arteries with cardiac malformation Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally uncorrected transposition of the great arteries with cardiac malformation -MONDO:0016304 MONDO:equivalentTo Orphanet:216866 classic pantothenate kinase-associated neurodegeneration Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic pantothenate kinase-associated neurodegeneration -MONDO:0016305 MONDO:equivalentTo Orphanet:216873 atypical pantothenate kinase-associated neurodegeneration Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical pantothenate kinase-associated neurodegeneration -MONDO:0016306 MONDO:equivalentTo Orphanet:216972 Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, severe perinatal form -MONDO:0016307 MONDO:equivalentTo Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, severe early infantile neurologic onset -MONDO:0016308 MONDO:equivalentTo Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, late infantile neurologic onset -MONDO:0016309 MONDO:equivalentTo Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, juvenile neurologic onset -MONDO:0016310 MONDO:equivalentTo Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, adult neurologic onset -MONDO:0016311 MONDO:equivalentTo Orphanet:217008 Bockenheimer syndrome Bockenheimer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bockenheimer syndrome -MONDO:0016312 MONDO:equivalentTo Orphanet:217064 5-fluorouracil poisoning 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5-fluorouracil poisoning -MONDO:0016315 MONDO:equivalentTo Orphanet:217085 mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2, severe form -MONDO:0016316 MONDO:equivalentTo Orphanet:217093 mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2, attenuated form -MONDO:0016318 MONDO:equivalentTo Orphanet:217260 progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy -MONDO:0016321 MONDO:equivalentTo Orphanet:217557 pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary interstitial glycogenosis -MONDO:0016322 MONDO:equivalentTo Orphanet:217560 neuroendocrine cell hyperplasia of infancy Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroendocrine cell hyperplasia of infancy -MONDO:0016323 MONDO:equivalentTo Orphanet:217566 chronic respiratory distress with surfactant metabolism deficiency Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic respiratory distress with surfactant metabolism deficiency -MONDO:0016330 MONDO:equivalentTo Orphanet:217598 non-familial hypertrophic cardiomyopathy Non-familial hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial hypertrophic cardiomyopathy -MONDO:0016331 MONDO:equivalentTo Orphanet:2176 infantile systemic hyalinosis Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile systemic hyalinosis -MONDO:0016333 MONDO:equivalentTo Orphanet:217607 familial dilated cardiomyopathy Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial dilated cardiomyopathy -MONDO:0016338 MONDO:equivalentTo Orphanet:217629 non-familial dilated cardiomyopathy Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial dilated cardiomyopathy -MONDO:0016340 MONDO:equivalentTo Orphanet:217635 familial restrictive cardiomyopathy Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial restrictive cardiomyopathy -MONDO:0016342 MONDO:equivalentTo Orphanet:217656 familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic right ventricular dysplasia -MONDO:0016344 MONDO:equivalentTo Orphanet:2177 hydranencephaly Hydranencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydranencephaly -MONDO:0016345 MONDO:equivalentTo Orphanet:217720 non-familial restrictive cardiomyopathy Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial restrictive cardiomyopathy -MONDO:0016346 MONDO:equivalentTo Orphanet:2183 hydrocephalus-obesity-hypogonadism syndrome Hydrocephalus-obesity-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-obesity-hypogonadism syndrome -MONDO:0016349 MONDO:equivalentTo Orphanet:2185 congenital hydrocephalus Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus -MONDO:0016350 MONDO:equivalentTo Orphanet:2186 hydrocephalus-blue sclerae-nephropathy syndrome Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-blue sclerae-nephropathy syndrome -MONDO:0016351 MONDO:equivalentTo Orphanet:2194 anti-HLA hyperimmunization Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-hla hyperimmunization -MONDO:0016353 MONDO:equivalentTo Orphanet:2201 palmoplantar keratoderma-spastic paralysis syndrome Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-spastic paralysis syndrome -MONDO:0016354 MONDO:equivalentTo Orphanet:220295 xeroderma pigmentosum-Cockayne syndrome complex Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex -MONDO:0016356 MONDO:equivalentTo Orphanet:220393 diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse cutaneous systemic sclerosis -MONDO:0016357 MONDO:equivalentTo Orphanet:646139 dysplastic cortical hyperostosis Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplastic cortical hyperostosis -MONDO:0016358 MONDO:equivalentTo Orphanet:220402 limited cutaneous systemic sclerosis Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limited cutaneous systemic sclerosis -MONDO:0016359 MONDO:equivalentTo Orphanet:220407 limited systemic sclerosis Limited systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limited systemic sclerosis -MONDO:0016362 MONDO:equivalentTo Orphanet:220460 attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attenuated familial adenomatous polyposis -MONDO:0016364 MONDO:equivalentTo Orphanet:220493 Joubert syndrome with ocular defect Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with ocular defect -MONDO:0016365 MONDO:equivalentTo Orphanet:2207 familial primary hyperparathyroidism Familial primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial primary hyperparathyroidism -MONDO:0016366 MONDO:equivalentTo Orphanet:2209 maternal phenylketonuria Maternal phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal phenylketonuria -MONDO:0016367 MONDO:equivalentTo Orphanet:221 dermatomyositis Dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatomyositis -MONDO:0016368 MONDO:equivalentTo Orphanet:221008 Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 -MONDO:0016369 MONDO:equivalentTo Orphanet:221016 Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 -MONDO:0016370 MONDO:equivalentTo Orphanet:221074 Marchiafava-Bignami disease Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marchiafava-bignami disease -MONDO:0016371 MONDO:equivalentTo Orphanet:221078 combined hyperactive dysfunction syndrome of the cranial nerves Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hyperactive dysfunction syndrome of the cranial nerves -MONDO:0016372 MONDO:equivalentTo Orphanet:221098 glossopharyngeal neuralgia Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossopharyngeal neuralgia -MONDO:0016374 MONDO:equivalentTo Orphanet:221109 cranial neuralgia Cranial neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranial neuralgia -MONDO:0016376 MONDO:equivalentTo Orphanet:221142 confetti-like macular atrophy Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label confetti-like macular atrophy -MONDO:0016379 MONDO:equivalentTo Orphanet:222 erosive pustular dermatosis of the scalp Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erosive pustular dermatosis of the scalp -MONDO:0016380 MONDO:equivalentTo Orphanet:2221 acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa -MONDO:0016381 MONDO:equivalentTo Orphanet:2222 hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis lanuginosa congenita -MONDO:0016382 MONDO:equivalentTo Orphanet:222628 hereditary poikiloderma Hereditary poikiloderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary poikiloderma -MONDO:0016383 MONDO:equivalentTo Orphanet:223 nephrogenic diabetes insipidus Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus -MONDO:0016384 MONDO:equivalentTo Orphanet:2230 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-frontoparietal alopecia syndrome -MONDO:0016385 MONDO:equivalentTo Orphanet:2233 hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadism-mitral valve prolapse-intellectual disability syndrome -MONDO:0016386 MONDO:equivalentTo Orphanet:2235 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-retinitis pigmentosa syndrome -MONDO:0016387 MONDO:equivalentTo Orphanet:223713 mitochondrial oxidative phosphorylation disorder Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial oxidative phosphorylation disorder -MONDO:0016391 MONDO:equivalentTo Orphanet:224 neonatal diabetes mellitus Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus -MONDO:0016392 MONDO:equivalentTo Orphanet:2246 cerebellar hypoplasia-tapetoretinal degeneration syndrome Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar hypoplasia-tapetoretinal degeneration syndrome -MONDO:0016393 MONDO:equivalentTo Orphanet:2250 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -MONDO:0016394 MONDO:equivalentTo Orphanet:225147 sporadic infantile bilateral striatal necrosis Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic infantile bilateral striatal necrosis -MONDO:0016395 MONDO:equivalentTo Orphanet:2253 foveal hypoplasia-presenile cataract syndrome Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foveal hypoplasia-presenile cataract syndrome -MONDO:0016396 MONDO:equivalentTo Orphanet:2254 pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 1 -MONDO:0016407 MONDO:equivalentTo Orphanet:2260 oligomeganephronia Oligomeganephronia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligomeganephronia -MONDO:0016408 MONDO:equivalentTo Orphanet:226292 permanent congenital hypothyroidism Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label permanent congenital hypothyroidism -MONDO:0016410 MONDO:equivalentTo Orphanet:226298 central congenital hypothyroidism Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central congenital hypothyroidism -MONDO:0016411 MONDO:equivalentTo Orphanet:226307 hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothyroidism due to deficient transcription factors involved in pituitary development or function -MONDO:0016413 MONDO:equivalentTo Orphanet:226313 congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypothyroidism due to maternal intake of antithyroid drugs -MONDO:0016414 MONDO:equivalentTo Orphanet:2266 hypotrichosis-intellectual disability, Lopes type Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-intellectual disability, lopes type -MONDO:0016416 MONDO:equivalentTo Orphanet:227 diphallia Diphallia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphallia -MONDO:0016417 MONDO:equivalentTo Orphanet:2271 congenital ichthyosis-microcephalus-tetraplegia syndrome Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ichthyosis-microcephalus-tetraplegia syndrome -MONDO:0016418 MONDO:equivalentTo Orphanet:227510 multiple system atrophy, cerebellar type Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy, cerebellar type -MONDO:0016421 MONDO:equivalentTo Orphanet:227972 toxic oil syndrome Toxic oil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic oil syndrome -MONDO:0016422 MONDO:equivalentTo Orphanet:227982 autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 3 -MONDO:0016423 MONDO:equivalentTo Orphanet:227990 autoimmune polyendocrinopathy type 4 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 4 -MONDO:0016424 MONDO:equivalentTo Orphanet:228012 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome -MONDO:0016425 MONDO:equivalentTo Orphanet:228116 Hughes-Stovin syndrome Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hughes-stovin syndrome -MONDO:0016426 MONDO:equivalentTo Orphanet:228119 fusariosis Fusariosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fusariosis -MONDO:0016429 MONDO:equivalentTo Orphanet:228157 Marburg acute multiple sclerosis Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marburg acute multiple sclerosis -MONDO:0016431 MONDO:equivalentTo Orphanet:228179 autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2m -MONDO:0016432 MONDO:equivalentTo Orphanet:228184 heart-hand syndrome Heart-hand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome -MONDO:0016437 MONDO:equivalentTo Orphanet:228227 late-onset focal dermal elastosis Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset focal dermal elastosis -MONDO:0016439 MONDO:equivalentTo Orphanet:228240 elastoderma Elastoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastoderma -MONDO:0016440 MONDO:equivalentTo Orphanet:228243 elastofibroma dorsi Elastofibroma dorsi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastofibroma dorsi -MONDO:0016441 MONDO:equivalentTo Orphanet:228247 acquired pseudoxanthoma elasticum Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired pseudoxanthoma elasticum -MONDO:0016442 MONDO:equivalentTo Orphanet:228254 elastoma Elastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastoma -MONDO:0016443 MONDO:equivalentTo Orphanet:228264 papular elastorrhexis Papular elastorrhexis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular elastorrhexis -MONDO:0016444 MONDO:equivalentTo Orphanet:228272 primary anetoderma Primary anetoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary anetoderma -MONDO:0016445 MONDO:equivalentTo Orphanet:228277 familial anetoderma Familial anetoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial anetoderma -MONDO:0016446 MONDO:equivalentTo Orphanet:228285 acquired cutis laxa Acquired cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cutis laxa -MONDO:0016447 MONDO:equivalentTo Orphanet:228290 white fibrous papulosis of the neck White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white fibrous papulosis of the neck -MONDO:0016448 MONDO:equivalentTo Orphanet:228293 pseudoxanthoma elasticum-like papillary dermal elastolysis Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthoma elasticum-like papillary dermal elastolysis -MONDO:0016449 MONDO:equivalentTo Orphanet:228299 mid-dermal elastolysis Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mid-dermal elastolysis -MONDO:0016450 MONDO:equivalentTo Orphanet:228312 autoimmune hemolytic anemia, cold type Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia, cold type -MONDO:0016453 MONDO:equivalentTo Orphanet:228371 foodborne botulism Foodborne botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foodborne botulism -MONDO:0016454 MONDO:equivalentTo Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b5 -MONDO:0016455 MONDO:equivalentTo Orphanet:228379 virus-associated trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label virus-associated trichodysplasia spinulosa -MONDO:0016456 MONDO:equivalentTo Orphanet:228384 5q14.3 microdeletion syndrome 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5q14.3 microdeletion syndrome -MONDO:0016457 MONDO:equivalentTo Orphanet:228396 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome -MONDO:0016458 MONDO:equivalentTo Orphanet:228399 8q12 microduplication syndrome 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q12 microduplication syndrome -MONDO:0016459 MONDO:equivalentTo Orphanet:228402 2q23.1 microdeletion syndrome 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q23.1 microdeletion syndrome -MONDO:0016460 MONDO:equivalentTo Orphanet:228410 polyvalvular heart disease syndrome Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyvalvular heart disease syndrome -MONDO:0016461 MONDO:equivalentTo Orphanet:228415 5q35 microduplication syndrome 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5q35 microduplication syndrome -MONDO:0016462 MONDO:equivalentTo Orphanet:229717 isolated agammaglobulinemia Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated agammaglobulinemia -MONDO:0016463 MONDO:equivalentTo Orphanet:229720 syndromic agammaglobulinemia Syndromic agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic agammaglobulinemia -MONDO:0016464 MONDO:equivalentTo Orphanet:2298 insulin-resistance syndrome type B Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin-resistance syndrome type b -MONDO:0016467 MONDO:equivalentTo Orphanet:2305 isotretinoin syndrome Isotretinoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isotretinoin syndrome -MONDO:0016468 MONDO:equivalentTo Orphanet:230800 toxin-mediated infectious botulism Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxin-mediated infectious botulism -MONDO:0016470 MONDO:equivalentTo Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos/osteogenesis imperfecta syndrome -MONDO:0016471 MONDO:equivalentTo Orphanet:2309 pachyonychia congenita Pachyonychia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachyonychia congenita -MONDO:0016472 MONDO:equivalentTo Orphanet:231 dracunculiasis Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis -MONDO:0016474 MONDO:equivalentTo Orphanet:231111 drug-induced lupus erythematosus Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced lupus erythematosus -MONDO:0016475 MONDO:equivalentTo Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to imprinting defect of 11p15 -MONDO:0016476 MONDO:equivalentTo Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to cdkn1c mutation -MONDO:0016477 MONDO:equivalentTo Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 microdeletion -MONDO:0016478 MONDO:equivalentTo Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 translocation/inversion -MONDO:0016479 MONDO:equivalentTo Orphanet:231137 silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to 7p11.2p13 microduplication -MONDO:0016480 MONDO:equivalentTo Orphanet:231140 silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to an imprinting defect of 11p15 -MONDO:0016481 MONDO:equivalentTo Orphanet:231144 silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to 11p15 microduplication -MONDO:0016482 MONDO:equivalentTo Orphanet:231147 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to maternal uniparental disomy of chromosome 11 -MONDO:0016484 MONDO:equivalentTo Orphanet:231178 Usher syndrome type 2 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 2 -MONDO:0016485 MONDO:equivalentTo Orphanet:231183 Usher syndrome type 3 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 3 -MONDO:0016486 MONDO:equivalentTo Orphanet:231214 beta-thalassemia major Beta-thalassemia major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia major -MONDO:0016487 MONDO:equivalentTo Orphanet:231222 beta-thalassemia intermedia Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia intermedia -MONDO:0016489 MONDO:equivalentTo Orphanet:231237 delta-beta-thalassemia Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delta-beta-thalassemia -MONDO:0016490 MONDO:equivalentTo Orphanet:231242 hemoglobin C-beta-thalassemia syndrome Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin c-beta-thalassemia syndrome -MONDO:0016491 MONDO:equivalentTo Orphanet:231249 hemoglobin E-beta-thalassemia syndrome Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin e-beta-thalassemia syndrome -MONDO:0016498 MONDO:equivalentTo Orphanet:231450 acute pure sensory neuropathy Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pure sensory neuropathy -MONDO:0016499 MONDO:equivalentTo Orphanet:231457 acute pandysautonomia Acute pandysautonomia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pandysautonomia -MONDO:0016500 MONDO:equivalentTo Orphanet:231466 acute sensory ataxic neuropathy Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sensory ataxic neuropathy -MONDO:0016503 MONDO:equivalentTo Orphanet:231573 congenital erosive and vesicular dermatosis Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital erosive and vesicular dermatosis -MONDO:0016504 MONDO:equivalentTo Orphanet:231580 primary unilateral adrenal hyperplasia Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary unilateral adrenal hyperplasia -MONDO:0016506 MONDO:equivalentTo Orphanet:231632 ectopic aldosterone-producing tumor Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic aldosterone-producing tumor -MONDO:0016509 MONDO:equivalentTo Orphanet:231736 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome -MONDO:0016510 MONDO:equivalentTo Orphanet:231742 epibulbar lipodermoid-preauricular appendage-polythelia syndrome Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epibulbar lipodermoid-preauricular appendage-polythelia syndrome -MONDO:0016511 MONDO:equivalentTo Orphanet:232035 infectious embryofetopathy Infectious embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious embryofetopathy -MONDO:0016512 MONDO:equivalentTo Orphanet:2322 Kabuki syndrome Kabuki syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kabuki syndrome -MONDO:0016514 MONDO:equivalentTo Orphanet:2325 epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex with anodontia/hypodontia -MONDO:0016515 MONDO:equivalentTo Orphanet:2326 Kallmann syndrome-heart disease syndrome Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kallmann syndrome-heart disease syndrome -MONDO:0016516 MONDO:equivalentTo Orphanet:2333 Kenny-Caffey syndrome Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kenny-caffey syndrome -MONDO:0016520 MONDO:equivalentTo Orphanet:2345 isolated Klippel-Feil syndrome Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated klippel-feil syndrome -MONDO:0016521 MONDO:equivalentTo Orphanet:2349 muscular pseudohypertrophy-hypothyroidism syndrome Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular pseudohypertrophy-hypothyroidism syndrome -MONDO:0016522 MONDO:equivalentTo Orphanet:2351 Kousseff syndrome Kousseff syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kousseff syndrome -MONDO:0016523 MONDO:equivalentTo Orphanet:2357 bronchogenic cyst Bronchogenic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchogenic cyst -MONDO:0016524 MONDO:equivalentTo Orphanet:235832 congenital vascular bone syndrome Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vascular bone syndrome -MONDO:0016525 MONDO:equivalentTo Orphanet:235936 familial hyperaldosteronism Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism -MONDO:0016526 MONDO:equivalentTo Orphanet:236 trisomy 9p Trisomy 9p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 9p -MONDO:0016527 MONDO:equivalentTo Orphanet:2364 glycogen storage disease due to lactate dehydrogenase deficiency Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase deficiency -MONDO:0016528 MONDO:equivalentTo Orphanet:2369 limb body wall complex Limb body wall complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb body wall complex -MONDO:0016529 MONDO:equivalentTo Orphanet:237 duplication of urethra Duplication of urethra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duplication of urethra -MONDO:0016530 MONDO:equivalentTo Orphanet:2372 laryngocele Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele -MONDO:0016531 MONDO:equivalentTo Orphanet:238 digestive duplication Digestive duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive duplication -MONDO:0016532 MONDO:equivalentTo Orphanet:2382 Lennox-Gastaut syndrome Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lennox-gastaut syndrome -MONDO:0016534 MONDO:equivalentTo Orphanet:238305 infundibulo-neurohypophysitis Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infundibulo-neurohypophysitis -MONDO:0016535 MONDO:equivalentTo Orphanet:238468 hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrotic ectodermal dysplasia -MONDO:0016537 MONDO:equivalentTo Orphanet:238510 lymphoproliferative syndrome Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoproliferative syndrome -MONDO:0016539 MONDO:equivalentTo Orphanet:238523 atypical hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical hypotonia-cystinuria syndrome -MONDO:0016540 MONDO:equivalentTo Orphanet:238536 congenital secondary polycythemia Congenital secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital secondary polycythemia -MONDO:0016541 MONDO:equivalentTo Orphanet:238547 acquired secondary polycythemia Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired secondary polycythemia -MONDO:0016542 MONDO:equivalentTo Orphanet:238569 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome -MONDO:0016543 MONDO:equivalentTo Orphanet:238583 hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphenylalaninemia due to tetrahydrobiopterin deficiency -MONDO:0016544 MONDO:equivalentTo Orphanet:238593 IgG4-related mesenteritis IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related mesenteritis -MONDO:0016545 MONDO:equivalentTo Orphanet:2386 leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy-palmoplantar keratoderma syndrome -MONDO:0016546 MONDO:equivalentTo Orphanet:238606 primary orthostatic tremor Primary orthostatic tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary orthostatic tremor -MONDO:0016547 MONDO:equivalentTo Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to nsd1 mutation -MONDO:0016548 MONDO:equivalentTo Orphanet:238637 megacystis-megaureter syndrome Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-megaureter syndrome -MONDO:0016549 MONDO:equivalentTo Orphanet:238642 primary megaureter, adult-onset form Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary megaureter, adult-onset form -MONDO:0016550 MONDO:equivalentTo Orphanet:238646 congenital primary megaureter, obstructed form Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, obstructed form -MONDO:0016551 MONDO:equivalentTo Orphanet:238650 congenital primary megaureter, refluxing form Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, refluxing form -MONDO:0016552 MONDO:equivalentTo Orphanet:238654 congenital primary megaureter, nonrefluxing and unobstructed form Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, nonrefluxing and unobstructed form -MONDO:0016553 MONDO:equivalentTo Orphanet:238666 isolated congenital hypogonadotropic hypogonadism Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypogonadotropic hypogonadism -MONDO:0016554 MONDO:equivalentTo Orphanet:238688 neonatal iodine exposure Neonatal iodine exposure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal iodine exposure -MONDO:0016555 MONDO:equivalentTo Orphanet:238696 transient congenital hypothyroidism due to maternal factor Transient congenital hypothyroidism due to maternal factor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism due to maternal factor -MONDO:0016556 MONDO:equivalentTo Orphanet:238699 transient congenital hypothyroidism due to neonatal factor Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism due to neonatal factor -MONDO:0016557 MONDO:equivalentTo Orphanet:2387 leukonychia totalis Leukonychia totalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukonychia totalis -MONDO:0016558 MONDO:equivalentTo Orphanet:238722 familial congenital mirror movements Familial congenital mirror movements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital mirror movements -MONDO:0016559 MONDO:equivalentTo Orphanet:238763 glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma secondary to spherophakia/ectopia lentis and megalocornea -MONDO:0016561 MONDO:equivalentTo Orphanet:238769 1q44 microdeletion syndrome 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1q44 microdeletion syndrome -MONDO:0016562 MONDO:equivalentTo Orphanet:240094 progressive supranuclear palsy-pure akinesia with gait freezing syndrome Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-pure akinesia with gait freezing syndrome -MONDO:0016563 MONDO:equivalentTo Orphanet:240103 progressive supranuclear palsy-corticobasal syndrome Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-corticobasal syndrome -MONDO:0016564 MONDO:equivalentTo Orphanet:240112 progressive supranuclear palsy-progressive non-fluent aphasia syndrome Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-progressive non-fluent aphasia syndrome -MONDO:0016566 MONDO:equivalentTo Orphanet:2404 loiasis Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis -MONDO:0016567 MONDO:equivalentTo Orphanet:2406 locked-in syndrome Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome -MONDO:0016568 MONDO:equivalentTo Orphanet:2408 Lowe-Kohn-Cohen syndrome Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowe-kohn-cohen syndrome -MONDO:0016570 MONDO:equivalentTo Orphanet:2420 primary pulmonary lymphoma Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary lymphoma -MONDO:0016571 MONDO:equivalentTo Orphanet:2427 macrocephaly-short stature-paraplegia syndrome Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-short stature-paraplegia syndrome -MONDO:0016573 MONDO:equivalentTo Orphanet:243367 acute fatty liver of pregnancy Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute fatty liver of pregnancy -MONDO:0016574 MONDO:equivalentTo Orphanet:2435 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome -MONDO:0016575 MONDO:equivalentTo Orphanet:244 primary ciliary dyskinesia Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia -MONDO:0016577 MONDO:equivalentTo Orphanet:244283 biliary atresia with splenic malformation syndrome Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biliary atresia with splenic malformation syndrome -MONDO:0016580 MONDO:equivalentTo Orphanet:2444 congenital pulmonary airway malformation Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation -MONDO:0016581 MONDO:equivalentTo Orphanet:2445 conotruncal heart malformations Conotruncal heart malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conotruncal heart malformations -MONDO:0016582 MONDO:equivalentTo Orphanet:2447 congenital mitral malformation Congenital mitral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral malformation -MONDO:0016584 MONDO:equivalentTo Orphanet:2457 mandibuloacral dysplasia Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia -MONDO:0016586 MONDO:equivalentTo Orphanet:2467 systemic mastocytosis Systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic mastocytosis -MONDO:0016587 MONDO:equivalentTo Orphanet:247 arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arrhythmogenic right ventricular cardiomyopathy -MONDO:0016588 MONDO:equivalentTo Orphanet:247165 infantile mercury poisoning Infantile mercury poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile mercury poisoning -MONDO:0016589 MONDO:equivalentTo Orphanet:247198 progressive cerebello-cerebral atrophy Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive cerebello-cerebral atrophy -MONDO:0016591 MONDO:equivalentTo Orphanet:247234 sporadic adult-onset ataxia of unknown etiology Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic adult-onset ataxia of unknown etiology -MONDO:0016593 MONDO:equivalentTo Orphanet:247242 acquired ataxia Acquired ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ataxia -MONDO:0016594 MONDO:equivalentTo Orphanet:247245 superficial siderosis Superficial siderosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial siderosis -MONDO:0016595 MONDO:equivalentTo Orphanet:247257 inhalational anthrax Inhalational anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inhalational anthrax -MONDO:0016596 MONDO:equivalentTo Orphanet:247262 hyperphosphatasia-intellectual disability syndrome Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphosphatasia-intellectual disability syndrome -MONDO:0016598 MONDO:equivalentTo Orphanet:247378 autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive secondary polycythemia not associated with vhl gene -MONDO:0016600 MONDO:equivalentTo Orphanet:247546 acute neonatal citrullinemia type I Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute neonatal citrullinemia type i -MONDO:0016602 MONDO:equivalentTo Orphanet:247582 citrin deficiency Citrin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrin deficiency -MONDO:0016603 MONDO:equivalentTo Orphanet:247585 citrullinemia type II Citrullinemia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia type ii -MONDO:0016604 MONDO:equivalentTo Orphanet:2476 dysraphism-cleft lip/palate-limb reduction defects syndrome Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysraphism-cleft lip/palate-limb reduction defects syndrome -MONDO:0016605 MONDO:equivalentTo Orphanet:247623 perinatal lethal hypophosphatasia Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal lethal hypophosphatasia -MONDO:0016607 MONDO:equivalentTo Orphanet:247685 odontohypophosphatasia Odontohypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontohypophosphatasia -MONDO:0016608 MONDO:equivalentTo Orphanet:2477 megalencephaly Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly -MONDO:0016609 MONDO:equivalentTo Orphanet:247718 inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory myopathy with abundant macrophages -MONDO:0016610 MONDO:equivalentTo Orphanet:247724 idiopathic eosinophilic myositis Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic eosinophilic myositis -MONDO:0016611 MONDO:equivalentTo Orphanet:247762 lipoblastoma Lipoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoblastoma -MONDO:0016612 MONDO:equivalentTo Orphanet:247765 X-linked cerebellar ataxia X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebellar ataxia -MONDO:0016613 MONDO:equivalentTo Orphanet:247806 APC-related attenuated familial adenomatous polyposis APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apc-related attenuated familial adenomatous polyposis -MONDO:0016614 MONDO:equivalentTo Orphanet:247815 autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex10 deficiency -MONDO:0016619 MONDO:equivalentTo Orphanet:248 autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hypohidrotic ectodermal dysplasia -MONDO:0016620 MONDO:equivalentTo Orphanet:248095 primary hypertrophic osteoarthropathy Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypertrophic osteoarthropathy -MONDO:0016621 MONDO:equivalentTo Orphanet:248111 juvenile Huntington disease Juvenile Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile huntington disease -MONDO:0016622 MONDO:equivalentTo Orphanet:2482 Melhem-Fahl syndrome Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melhem-fahl syndrome -MONDO:0016630 MONDO:equivalentTo Orphanet:248340 isolated delta-storage pool disease Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated delta-storage pool disease -MONDO:0016638 MONDO:equivalentTo Orphanet:248408 familial hypodysfibrinogenemia Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypodysfibrinogenemia -MONDO:0016642 MONDO:equivalentTo Orphanet:2495 meningioma Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningioma -MONDO:0016643 MONDO:equivalentTo Orphanet:250 frontonasal dysplasia Frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia -MONDO:0016644 MONDO:equivalentTo Orphanet:250831 logopenic progressive aphasia Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia -MONDO:0016646 MONDO:equivalentTo Orphanet:250932 autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy and peripheral neuropathy -MONDO:0016648 MONDO:equivalentTo Orphanet:251 multiple epiphyseal dysplasia Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia -MONDO:0016650 MONDO:equivalentTo Orphanet:251004 paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 1 -MONDO:0016651 MONDO:equivalentTo Orphanet:251009 maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 1 -MONDO:0016652 MONDO:equivalentTo Orphanet:251014 2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q31.1 microdeletion syndrome -MONDO:0016655 MONDO:equivalentTo Orphanet:251046 6p22 microdeletion syndrome 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6p22 microdeletion syndrome -MONDO:0016656 MONDO:equivalentTo Orphanet:251061 7q31 microdeletion syndrome 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7q31 microdeletion syndrome -MONDO:0016657 MONDO:equivalentTo Orphanet:251066 8p11.2 deletion syndrome 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p11.2 deletion syndrome -MONDO:0016658 MONDO:equivalentTo Orphanet:251071 8p23.1 microdeletion syndrome 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p23.1 microdeletion syndrome -MONDO:0016659 MONDO:equivalentTo Orphanet:251076 8p23.1 duplication syndrome 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p23.1 duplication syndrome -MONDO:0016660 MONDO:equivalentTo Orphanet:2512 autosomal recessive primary microcephaly Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive primary microcephaly -MONDO:0016661 MONDO:equivalentTo Orphanet:251304 infantile onset panniculitis with uveitis and systemic granulomatosis Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile onset panniculitis with uveitis and systemic granulomatosis -MONDO:0016662 MONDO:equivalentTo Orphanet:251307 idiopathic recurrent pericarditis Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic recurrent pericarditis -MONDO:0016663 MONDO:equivalentTo Orphanet:251312 overlapping connective tissue disease Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overlapping connective tissue disease -MONDO:0016664 MONDO:equivalentTo Orphanet:251325 drug-induced vasculitis Drug-induced vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced vasculitis -MONDO:0016666 MONDO:equivalentTo Orphanet:251332 unexplained long-lasting fever/inflammatory syndrome Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unexplained long-lasting fever/inflammatory syndrome -MONDO:0016668 MONDO:equivalentTo Orphanet:251359 sickle cell-beta-thalassemia disease syndrome Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-beta-thalassemia disease syndrome -MONDO:0016669 MONDO:equivalentTo Orphanet:251365 sickle cell-hemoglobin c disease syndrome Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin c disease syndrome -MONDO:0016670 MONDO:equivalentTo Orphanet:251370 sickle cell-hemoglobin d disease syndrome Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin d disease syndrome -MONDO:0016671 MONDO:equivalentTo Orphanet:251375 sickle cell-hemoglobin E disease syndrome Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin e disease syndrome -MONDO:0016672 MONDO:equivalentTo Orphanet:251380 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-sickle cell disease syndrome -MONDO:0016674 MONDO:equivalentTo Orphanet:251510 46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy partial gonadal dysgenesis -MONDO:0016675 MONDO:equivalentTo Orphanet:251515 distal arthrogryposis type 10 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis type 10 -MONDO:0016677 MONDO:equivalentTo Orphanet:251529 toxic or drug-related embryofetopathy Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic or drug-related embryofetopathy -MONDO:0016678 MONDO:equivalentTo Orphanet:251535 maternal disease-related embryofetopathy Maternal disease-related embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal disease-related embryofetopathy -MONDO:0016681 MONDO:equivalentTo Orphanet:251576 gliosarcoma Gliosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gliosarcoma -MONDO:0016682 MONDO:equivalentTo Orphanet:251579 giant cell glioblastoma Giant cell glioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant cell glioblastoma -MONDO:0016683 MONDO:equivalentTo Orphanet:251582 gliomatosis cerebri Gliomatosis cerebri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gliomatosis cerebri -MONDO:0016684 MONDO:equivalentTo Orphanet:251589 anaplastic astrocytoma Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic astrocytoma -MONDO:0016685 MONDO:equivalentTo Orphanet:251592 low-grade astrocytoma Low-grade astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low-grade astrocytoma -MONDO:0016686 MONDO:equivalentTo Orphanet:251595 diffuse astrocytoma Diffuse astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse astrocytoma -MONDO:0016687 MONDO:equivalentTo Orphanet:251598 protoplasmic astrocytoma Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protoplasmic astrocytoma -MONDO:0016688 MONDO:equivalentTo Orphanet:251601 fibrillary astrocytoma Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrillary astrocytoma -MONDO:0016689 MONDO:equivalentTo Orphanet:251604 gemistocytic astrocytoma Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gemistocytic astrocytoma -MONDO:0016690 MONDO:equivalentTo Orphanet:251607 pleomorphic xanthoastrocytoma Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic xanthoastrocytoma -MONDO:0016691 MONDO:equivalentTo Orphanet:251612 pilocytic astrocytoma Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilocytic astrocytoma -MONDO:0016692 MONDO:equivalentTo Orphanet:251615 pilomyxoid astrocytoma Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilomyxoid astrocytoma -MONDO:0016693 MONDO:equivalentTo Orphanet:251618 subependymal giant cell astrocytoma Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymal giant cell astrocytoma -MONDO:0016695 MONDO:equivalentTo Orphanet:251627 oligodendroglioma Oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodendroglioma -MONDO:0016696 MONDO:equivalentTo Orphanet:251630 anaplastic oligodendroglioma Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligodendroglioma -MONDO:0016698 MONDO:equivalentTo Orphanet:251636 ependymoma Ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymoma -MONDO:0016699 MONDO:equivalentTo Orphanet:251643 myxopapillary ependymoma Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxopapillary ependymoma -MONDO:0016700 MONDO:equivalentTo Orphanet:251646 anaplastic ependymoma Anaplastic ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ependymoma -MONDO:0016702 MONDO:equivalentTo Orphanet:251656 oligoastrocytoma Oligoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligoastrocytoma -MONDO:0016703 MONDO:equivalentTo Orphanet:251663 anaplastic oligoastrocytoma Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligoastrocytoma -MONDO:0016705 MONDO:equivalentTo Orphanet:251671 angiocentric glioma Angiocentric glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiocentric glioma -MONDO:0016707 MONDO:equivalentTo Orphanet:251679 astroblastoma Astroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astroblastoma -MONDO:0016709 MONDO:equivalentTo Orphanet:251855 anaplastic/large cell medulloblastoma Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic/large cell medulloblastoma -MONDO:0016710 MONDO:equivalentTo Orphanet:251858 medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medulloblastoma with extensive nodularity -MONDO:0016711 MONDO:equivalentTo Orphanet:251863 desmoplastic/nodular medulloblastoma Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic/nodular medulloblastoma -MONDO:0016712 MONDO:equivalentTo Orphanet:251867 classic medulloblastoma Classic medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic medulloblastoma -MONDO:0016715 MONDO:equivalentTo Orphanet:251880 ependymoblastoma Ependymoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymoblastoma -MONDO:0016718 MONDO:equivalentTo Orphanet:251899 choroid plexus carcinoma Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroid plexus carcinoma -MONDO:0016719 MONDO:equivalentTo Orphanet:2519 microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-seizures-intellectual disability-heart disease syndrome -MONDO:0016722 MONDO:equivalentTo Orphanet:251909 pineoblastoma Pineoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineoblastoma -MONDO:0016723 MONDO:equivalentTo Orphanet:251912 pineocytoma Pineocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineocytoma -MONDO:0016724 MONDO:equivalentTo Orphanet:251915 papillary tumor of the pineal region Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary tumor of the pineal region -MONDO:0016725 MONDO:equivalentTo Orphanet:251919 pineal parenchymal tumor of intermediate differenciation Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineal parenchymal tumor of intermediate differenciation -MONDO:0016727 MONDO:equivalentTo Orphanet:251927 extraventricular neurocytoma Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma -MONDO:0016729 MONDO:equivalentTo Orphanet:251934 mixed neuronal-glial tumor Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed neuronal-glial tumor -MONDO:0016730 MONDO:equivalentTo Orphanet:251937 gangliocytoma Gangliocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gangliocytoma -MONDO:0016731 MONDO:equivalentTo Orphanet:251940 desmoplastic infantile astrocytoma/ganglioglioma Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic infantile astrocytoma/ganglioglioma -MONDO:0016733 MONDO:equivalentTo Orphanet:251949 ganglioglioma Ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioglioma -MONDO:0016734 MONDO:equivalentTo Orphanet:251957 anaplastic ganglioglioma Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ganglioglioma -MONDO:0016735 MONDO:equivalentTo Orphanet:251962 papillary glioneuronal tumor Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor -MONDO:0016739 MONDO:equivalentTo Orphanet:252006 yolk sac tumor of central nervous system Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yolk sac tumor of central nervous system -MONDO:0016740 MONDO:equivalentTo Orphanet:252015 choriocarcinoma of the central nervous system Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choriocarcinoma of the central nervous system -MONDO:0016742 MONDO:equivalentTo Orphanet:252021 mixed germ cell tumor of central nervous system Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed germ cell tumor of central nervous system -MONDO:0016743 MONDO:equivalentTo Orphanet:252025 tumor of meninges Tumor of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor of meninges -MONDO:0016745 MONDO:equivalentTo Orphanet:252031 diffuse leptomeningeal melanocytosis Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse leptomeningeal melanocytosis -MONDO:0016746 MONDO:equivalentTo Orphanet:252046 meningeal melanocytoma Meningeal melanocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningeal melanocytoma -MONDO:0016747 MONDO:equivalentTo Orphanet:252050 primary melanoma of the central nervous system Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary melanoma of the central nervous system -MONDO:0016748 MONDO:equivalentTo Orphanet:252054 hemangioblastoma Hemangioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemangioblastoma -MONDO:0016749 MONDO:equivalentTo Orphanet:252057 tumor of cranial and spinal nerves Tumor of cranial and spinal nerves semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor of cranial and spinal nerves -MONDO:0016752 MONDO:equivalentTo Orphanet:252131 benign peripheral nerve sheath tumor Benign peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign peripheral nerve sheath tumor -MONDO:0016755 MONDO:equivalentTo Orphanet:252183 neurofibroma Neurofibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibroma -MONDO:0016757 MONDO:equivalentTo Orphanet:252212 malignant triton tumor Malignant triton tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant triton tumor -MONDO:0016758 MONDO:equivalentTo Orphanet:2523 microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-brain defect-spasticity-hypernatremia syndrome -MONDO:0016759 MONDO:equivalentTo Orphanet:2524 pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 2 -MONDO:0016760 MONDO:equivalentTo Orphanet:2528 microcephaly-microcornea syndrome, Seemanova type Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-microcornea syndrome, seemanova type -MONDO:0016763 MONDO:equivalentTo Orphanet:254 spondylometaphyseal dysplasia Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia -MONDO:0016765 MONDO:equivalentTo Orphanet:254346 19p13.12 microdeletion syndrome 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 19p13.12 microdeletion syndrome -MONDO:0016769 MONDO:equivalentTo Orphanet:254379 linear lichen planus Linear lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear lichen planus -MONDO:0016770 MONDO:equivalentTo Orphanet:254395 actinic lichen planus Actinic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic lichen planus -MONDO:0016771 MONDO:equivalentTo Orphanet:254411 annular atrophic lichen planus Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular atrophic lichen planus -MONDO:0016772 MONDO:equivalentTo Orphanet:254424 annular lichen planus Annular lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular lichen planus -MONDO:0016773 MONDO:equivalentTo Orphanet:254449 atrophic lichen planus Atrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophic lichen planus -MONDO:0016774 MONDO:equivalentTo Orphanet:254463 lichen planus pigmentosus Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus pigmentosus -MONDO:0016775 MONDO:equivalentTo Orphanet:254478 lichen planus pemphigoides Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus pemphigoides -MONDO:0016776 MONDO:equivalentTo Orphanet:254492 frontal fibrosing alopecia Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal fibrosing alopecia -MONDO:0016777 MONDO:equivalentTo Orphanet:254504 inhalational botulism Inhalational botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inhalational botulism -MONDO:0016778 MONDO:equivalentTo Orphanet:254509 iatrogenic botulism Iatrogenic botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iatrogenic botulism -MONDO:0016785 MONDO:equivalentTo Orphanet:254688 complete hydatidiform mole Complete hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hydatidiform mole -MONDO:0016786 MONDO:equivalentTo Orphanet:254693 partial hydatidiform mole Partial hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial hydatidiform mole -MONDO:0016787 MONDO:equivalentTo Orphanet:254698 epithelioid trophoblastic tumor Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid trophoblastic tumor -MONDO:0016789 MONDO:equivalentTo Orphanet:254746 pyruvate metabolism disorder Pyruvate metabolism disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate metabolism disorder -MONDO:0016790 MONDO:equivalentTo Orphanet:254749 tricarboxylic acid cycle disorder Tricarboxylic acid cycle disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricarboxylic acid cycle disorder -MONDO:0016796 MONDO:equivalentTo Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form -MONDO:0016798 MONDO:equivalentTo Orphanet:254818 ataxia neuropathy spectrum Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia neuropathy spectrum -MONDO:0016800 MONDO:equivalentTo Orphanet:254827 mitochondrial membrane transport disorder Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial membrane transport disorder -MONDO:0016801 MONDO:equivalentTo Orphanet:254830 mitochondrial substrate carrier disorder Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial substrate carrier disorder -MONDO:0016802 MONDO:equivalentTo Orphanet:254834 mitochondrial protein import disorder Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial protein import disorder -MONDO:0016807 MONDO:equivalentTo Orphanet:254854 pure mitochondrial myopathy Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure mitochondrial myopathy -MONDO:0016809 MONDO:equivalentTo Orphanet:254881 spinocerebellar ataxia with epilepsy Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia with epilepsy -MONDO:0016810 MONDO:equivalentTo Orphanet:254886 autosomal recessive progressive external ophthalmoplegia Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive progressive external ophthalmoplegia -MONDO:0016811 MONDO:equivalentTo Orphanet:254902 renal tubulopathy-encephalopathy-liver failure syndrome Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubulopathy-encephalopathy-liver failure syndrome -MONDO:0016812 MONDO:equivalentTo Orphanet:255 dopa-responsive dystonia Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dopa-responsive dystonia -MONDO:0016818 MONDO:equivalentTo Orphanet:2558 Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mikati-najjar-sahli syndrome -MONDO:0016819 MONDO:equivalentTo Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome -MONDO:0016820 MONDO:equivalentTo Orphanet:2573 Moyamoya disease Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease -MONDO:0016822 MONDO:equivalentTo Orphanet:2582 myalgia-eosinophilia syndrome associated with tryptophan Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myalgia-eosinophilia syndrome associated with tryptophan -MONDO:0016823 MONDO:equivalentTo Orphanet:2583 mycetoma Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma -MONDO:0016824 MONDO:equivalentTo Orphanet:2591 infantile myofibromatosis Infantile myofibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile myofibromatosis -MONDO:0016825 MONDO:equivalentTo Orphanet:2597 mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy-lactic acidosis-deafness syndrome -MONDO:0016828 MONDO:equivalentTo Orphanet:260305 autosomal recessive sideroblastic anemia Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive sideroblastic anemia -MONDO:0016829 MONDO:equivalentTo Orphanet:2604 familial visceral myopathy Familial visceral myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial visceral myopathy -MONDO:0016830 MONDO:equivalentTo Orphanet:261 Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emery-dreifuss muscular dystrophy -MONDO:0016831 MONDO:equivalentTo Orphanet:2611 linear verrucous nevus syndrome Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear verrucous nevus syndrome -MONDO:0016832 MONDO:equivalentTo Orphanet:261102 distal 7q11.23 microduplication syndrome Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 7q11.23 microduplication syndrome -MONDO:0016834 MONDO:equivalentTo Orphanet:261204 16p11.2p12.2 microduplication syndrome 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p11.2p12.2 microduplication syndrome -MONDO:0016835 MONDO:equivalentTo Orphanet:261229 14q11.2 microduplication syndrome 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q11.2 microduplication syndrome -MONDO:0016836 MONDO:equivalentTo Orphanet:261236 16p13.11 microdeletion syndrome 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p13.11 microdeletion syndrome -MONDO:0016837 MONDO:equivalentTo Orphanet:261243 16p13.11 microduplication syndrome 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p13.11 microduplication syndrome -MONDO:0016838 MONDO:equivalentTo Orphanet:261250 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16q24.3 microdeletion syndrome -MONDO:0016839 MONDO:equivalentTo Orphanet:261257 distal 17p13.3 microdeletion syndrome Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 17p13.3 microdeletion syndrome -MONDO:0016840 MONDO:equivalentTo Orphanet:261290 trisomy 17p Trisomy 17p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 17p -MONDO:0016841 MONDO:equivalentTo Orphanet:261295 20p12.3 microdeletion syndrome 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20p12.3 microdeletion syndrome -MONDO:0016842 MONDO:equivalentTo Orphanet:261304 paternal 20q13.2q13.3 microdeletion syndrome Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal 20q13.2q13.3 microdeletion syndrome -MONDO:0016843 MONDO:equivalentTo Orphanet:261311 20q13.33 microdeletion syndrome 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q13.33 microdeletion syndrome -MONDO:0016844 MONDO:equivalentTo Orphanet:261318 trisomy 20p Trisomy 20p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 20p -MONDO:0016845 MONDO:equivalentTo Orphanet:261323 21q22.11q22.12 microdeletion syndrome 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 21q22.11q22.12 microdeletion syndrome -MONDO:0016846 MONDO:equivalentTo Orphanet:261337 distal 22q11.2 microduplication syndrome Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 22q11.2 microduplication syndrome -MONDO:0016847 MONDO:equivalentTo Orphanet:261344 trisomy 1q Trisomy 1q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 1q -MONDO:0016848 MONDO:equivalentTo Orphanet:26137 juvenile temporal arteritis Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile temporal arteritis -MONDO:0016851 MONDO:equivalentTo Orphanet:261519 maternal uniparental disomy of chromosome X Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome x -MONDO:0016852 MONDO:equivalentTo Orphanet:261524 paternal uniparental disomy of chromosome X Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome x -MONDO:0016854 MONDO:equivalentTo Orphanet:261534 49,XXXYY syndrome 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxyy syndrome -MONDO:0016855 MONDO:equivalentTo Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome due to monosomy 2q22 -MONDO:0016856 MONDO:equivalentTo Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome due to a zeb2 point mutation -MONDO:0016860 MONDO:equivalentTo Orphanet:261584 familial adenomatous polyposis due to 5q22.2 microdeletion Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis due to 5q22.2 microdeletion -MONDO:0016861 MONDO:equivalentTo Orphanet:261600 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to 20p12 microdeletion -MONDO:0016862 MONDO:equivalentTo Orphanet:261619 Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to a jag1 point mutation -MONDO:0016863 MONDO:equivalentTo Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label okihiro syndrome due to 20q13 microdeletion -MONDO:0016864 MONDO:equivalentTo Orphanet:261647 Okihiro syndrome due to a point mutation Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label okihiro syndrome due to a point mutation -MONDO:0016865 MONDO:equivalentTo Orphanet:261652 Kleefstra syndrome due to a point mutation Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome due to a point mutation -MONDO:0016866 MONDO:equivalentTo Orphanet:261766 partial deletion of chromosome 1 Partial deletion of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 1 -MONDO:0016867 MONDO:equivalentTo Orphanet:261771 partial deletion of chromosome 2 Partial deletion of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 2 -MONDO:0016868 MONDO:equivalentTo Orphanet:261776 partial deletion of chromosome 3 Partial deletion of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 3 -MONDO:0016869 MONDO:equivalentTo Orphanet:261781 partial deletion of chromosome 4 Partial deletion of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 4 -MONDO:0016870 MONDO:equivalentTo Orphanet:261786 partial deletion of chromosome 5 Partial deletion of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 5 -MONDO:0016871 MONDO:equivalentTo Orphanet:261791 partial deletion of chromosome 6 Partial deletion of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 6 -MONDO:0016872 MONDO:equivalentTo Orphanet:261796 partial deletion of chromosome 7 Partial deletion of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 7 -MONDO:0016873 MONDO:equivalentTo Orphanet:261801 partial deletion of chromosome 8 Partial deletion of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 8 -MONDO:0016874 MONDO:equivalentTo Orphanet:261806 partial deletion of chromosome 9 Partial deletion of chromosome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 9 -MONDO:0016875 MONDO:equivalentTo Orphanet:261811 partial deletion of chromosome 10 Partial deletion of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 10 -MONDO:0016876 MONDO:equivalentTo Orphanet:261816 partial deletion of chromosome 11 Partial deletion of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 11 -MONDO:0016877 MONDO:equivalentTo Orphanet:261821 partial deletion of the long arm of chromosome 12 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 12 -MONDO:0016878 MONDO:equivalentTo Orphanet:261826 partial deletion of chromosome 16 Partial deletion of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 16 -MONDO:0016879 MONDO:equivalentTo Orphanet:261831 partial deletion of chromosome 17 Partial deletion of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 17 -MONDO:0016880 MONDO:equivalentTo Orphanet:261836 partial deletion of chromosome 18 Partial deletion of chromosome 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 18 -MONDO:0016881 MONDO:equivalentTo Orphanet:261841 partial deletion of chromosome 19 Partial deletion of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 19 -MONDO:0016882 MONDO:equivalentTo Orphanet:261846 partial deletion of chromosome 20 Partial deletion of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 20 -MONDO:0016883 MONDO:equivalentTo Orphanet:261857 partial deletion of the short arm of chromosome 1 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 1 -MONDO:0016884 MONDO:equivalentTo Orphanet:261866 partial deletion of the short arm of chromosome 2 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 2 -MONDO:0016885 MONDO:equivalentTo Orphanet:261875 partial deletion of the short arm of chromosome 3 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 3 -MONDO:0016887 MONDO:equivalentTo Orphanet:261893 partial deletion of the short arm of chromosome 5 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 5 -MONDO:0016888 MONDO:equivalentTo Orphanet:261902 partial deletion of the short arm of chromosome 6 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 6 -MONDO:0016889 MONDO:equivalentTo Orphanet:261911 partial deletion of the short arm of chromosome 7 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 7 -MONDO:0016890 MONDO:equivalentTo Orphanet:261920 partial deletion of the short arm of chromosome 8 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 8 -MONDO:0016892 MONDO:equivalentTo Orphanet:261938 partial deletion of the short arm of chromosome 10 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 10 -MONDO:0016893 MONDO:equivalentTo Orphanet:261947 partial deletion of the short arm of chromosome 11 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 11 -MONDO:0016894 MONDO:equivalentTo Orphanet:261956 partial deletion of the short arm of chromosome 16 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 16 -MONDO:0016897 MONDO:equivalentTo Orphanet:261983 partial deletion of the short arm of chromosome 19 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 19 -MONDO:0016901 MONDO:equivalentTo Orphanet:262010 partial deletion of the long arm of chromosome 2 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 2 -MONDO:0016902 MONDO:equivalentTo Orphanet:262019 partial deletion of the long arm of chromosome 3 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 3 -MONDO:0016903 MONDO:equivalentTo Orphanet:262029 partial deletion of the long arm of chromosome 4 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 4 -MONDO:0016904 MONDO:equivalentTo Orphanet:262038 partial deletion of the long arm of chromosome 5 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 5 -MONDO:0016905 MONDO:equivalentTo Orphanet:262047 partial deletion of the long arm of chromosome 6 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 6 -MONDO:0016906 MONDO:equivalentTo Orphanet:262056 partial deletion of the long arm of chromosome 7 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 7 -MONDO:0016907 MONDO:equivalentTo Orphanet:262065 partial deletion of the long arm of chromosome 8 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 8 -MONDO:0016910 MONDO:equivalentTo Orphanet:262092 partial deletion of the long arm of chromosome 11 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 11 -MONDO:0016911 MONDO:equivalentTo Orphanet:262101 partial deletion of the long arm of chromosome 13 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 13 -MONDO:0016912 MONDO:equivalentTo Orphanet:262110 partial deletion of the long arm of chromosome 14 Partial deletion of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 14 -MONDO:0016913 MONDO:equivalentTo Orphanet:262119 partial deletion of the long arm of chromosome 15 Partial deletion of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 15 -MONDO:0016914 MONDO:equivalentTo Orphanet:262128 partial deletion of the long arm of chromosome 16 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 16 -MONDO:0016915 MONDO:equivalentTo Orphanet:262137 partial deletion of the long arm of chromosome 17 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 17 -MONDO:0016917 MONDO:equivalentTo Orphanet:262155 partial deletion of the long arm of chromosome 19 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 19 -MONDO:0016918 MONDO:equivalentTo Orphanet:262164 partial deletion of the long arm of chromosome 20 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 20 -MONDO:0016919 MONDO:equivalentTo Orphanet:262173 partial deletion of the long arm of chromosome 21 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 21 -MONDO:0016921 MONDO:equivalentTo Orphanet:262191 partial duplication of chromosome 1 Partial duplication of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 1 -MONDO:0016922 MONDO:equivalentTo Orphanet:262196 partial duplication of chromosome 2 Partial duplication of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 2 -MONDO:0016923 MONDO:equivalentTo Orphanet:262201 partial duplication of chromosome 3 Partial duplication of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 3 -MONDO:0016924 MONDO:equivalentTo Orphanet:262206 partial duplication of chromosome 4 Partial duplication of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 4 -MONDO:0016927 MONDO:equivalentTo Orphanet:262628 partial duplication of chromosome 6 Partial duplication of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 6 -MONDO:0016928 MONDO:equivalentTo Orphanet:262633 partial duplication of chromosome 7 Partial duplication of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 7 -MONDO:0016929 MONDO:equivalentTo Orphanet:262638 partial duplication of chromosome 8 Partial duplication of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 8 -MONDO:0016931 MONDO:equivalentTo Orphanet:262648 partial duplication of chromosome 10 Partial duplication of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 10 -MONDO:0016932 MONDO:equivalentTo Orphanet:262653 partial duplication of chromosome 11 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 11 -MONDO:0016934 MONDO:equivalentTo Orphanet:262672 partial duplication of chromosome 16 Partial duplication of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 16 -MONDO:0016935 MONDO:equivalentTo Orphanet:262677 partial duplication of chromosome 17 Partial duplication of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 17 -MONDO:0016937 MONDO:equivalentTo Orphanet:262687 partial duplication of chromosome 19 Partial duplication of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 19 -MONDO:0016939 MONDO:equivalentTo Orphanet:262698 partial duplication of the short arm of chromosome 2 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 2 -MONDO:0016940 MONDO:equivalentTo Orphanet:262707 partial duplication of the short arm of chromosome 3 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 3 -MONDO:0016941 MONDO:equivalentTo Orphanet:262716 partial duplication of the short arm of chromosome 4 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 4 -MONDO:0016943 MONDO:equivalentTo Orphanet:262740 partial duplication of the short arm of chromosome 6 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 6 -MONDO:0016944 MONDO:equivalentTo Orphanet:262749 partial duplication of the short arm of chromosome 7 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 7 -MONDO:0016945 MONDO:equivalentTo Orphanet:262758 partial duplication of the short arm of chromosome 8 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 8 -MONDO:0016947 MONDO:equivalentTo Orphanet:262776 partial duplication of the short arm of chromosome 10 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 10 -MONDO:0016948 MONDO:equivalentTo Orphanet:262785 partial duplication of the short arm of chromosome 11 Partial duplication of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 11 -MONDO:0016949 MONDO:equivalentTo Orphanet:262794 partial duplication of the short arm of chromosome 16 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 16 -MONDO:0016950 MONDO:equivalentTo Orphanet:262803 partial duplication of the short arm of chromosome 17 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 17 -MONDO:0016952 MONDO:equivalentTo Orphanet:262833 partial duplication of the long arm of chromosome 1 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 1 -MONDO:0016953 MONDO:equivalentTo Orphanet:262842 partial duplication of the long arm of chromosome 2 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 2 -MONDO:0016954 MONDO:equivalentTo Orphanet:262851 partial duplication of the long arm of chromosome 3 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 3 -MONDO:0016955 MONDO:equivalentTo Orphanet:262860 partial duplication of the long arm of chromosome 4 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 4 -MONDO:0016957 MONDO:equivalentTo Orphanet:262878 partial duplication of the long arm of chromosome 6 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 6 -MONDO:0016958 MONDO:equivalentTo Orphanet:262887 partial duplication of the long arm of chromosome 7 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 7 -MONDO:0016959 MONDO:equivalentTo Orphanet:262896 partial duplication of the long arm of chromosome 8 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 8 -MONDO:0016961 MONDO:equivalentTo Orphanet:262914 partial duplication of the long arm of chromosome 10 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 10 -MONDO:0016964 MONDO:equivalentTo Orphanet:262941 partial duplication of the long arm of chromosome 14 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 14 -MONDO:0016965 MONDO:equivalentTo Orphanet:262950 partial duplication of the long arm of chromosome 15 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 15 -MONDO:0016967 MONDO:equivalentTo Orphanet:262968 partial duplication of the long arm of chromosome 17 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 17 -MONDO:0016969 MONDO:equivalentTo Orphanet:262986 partial duplication of the long arm of chromosome 19 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 19 -MONDO:0016971 MONDO:equivalentTo Orphanet:263 limb-girdle muscular dystrophy Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-girdle muscular dystrophy -MONDO:0016972 MONDO:equivalentTo Orphanet:263004 partial duplication of the long arm of chromosome 22 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 22 -MONDO:0016974 MONDO:equivalentTo Orphanet:263317 thymoma type B Thymoma type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type b -MONDO:0016975 MONDO:equivalentTo Orphanet:263324 thymoma type AB Thymoma type AB semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type ab -MONDO:0016976 MONDO:equivalentTo Orphanet:263331 well-differentiated thymic neuroendocrine carcinoma Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated thymic neuroendocrine carcinoma -MONDO:0016977 MONDO:equivalentTo Orphanet:263335 moderately-differentiated thymic neuroendocrine carcinoma Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moderately-differentiated thymic neuroendocrine carcinoma -MONDO:0016978 MONDO:equivalentTo Orphanet:263339 poorly differentiated thymic neuroendocrine carcinoma Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poorly differentiated thymic neuroendocrine carcinoma -MONDO:0016979 MONDO:equivalentTo Orphanet:263347 MRCS syndrome MRCS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mrcs syndrome -MONDO:0016982 MONDO:equivalentTo Orphanet:263413 angiosarcoma Angiosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiosarcoma -MONDO:0016984 MONDO:equivalentTo Orphanet:263425 nevus of Ota Nevus of Ota semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus of ota -MONDO:0016985 MONDO:equivalentTo Orphanet:263432 nevus of Ito Nevus of Ito semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus of ito -MONDO:0016986 MONDO:equivalentTo Orphanet:263435 congenital smooth muscle hamartoma Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital smooth muscle hamartoma -MONDO:0016987 MONDO:equivalentTo Orphanet:263440 neuroacanthocytosis Neuroacanthocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroacanthocytosis -MONDO:0016989 MONDO:equivalentTo Orphanet:263479 Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fuchs heterochromic iridocyclitis -MONDO:0016990 MONDO:equivalentTo Orphanet:26348 acquired prothrombin deficiency Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired prothrombin deficiency -MONDO:0016991 MONDO:equivalentTo Orphanet:263524 acute necrotizing encephalopathy of childhood Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute necrotizing encephalopathy of childhood -MONDO:0016994 MONDO:equivalentTo Orphanet:2636 microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic primordial dwarfism types i and iii -MONDO:0016995 MONDO:equivalentTo Orphanet:263662 familial multiple meningioma Familial multiple meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple meningioma -MONDO:0016996 MONDO:equivalentTo Orphanet:263665 NK-cell enteropathy NK-cell enteropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nk-cell enteropathy -MONDO:0017003 MONDO:equivalentTo Orphanet:263726 partial deletion of chromosome X Partial deletion of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome x -MONDO:0017007 MONDO:equivalentTo Orphanet:263756 partial deletion of the long arm of chromosome X Partial deletion of the long arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome x -MONDO:0017008 MONDO:equivalentTo Orphanet:263768 partial duplication of chromosome X Partial duplication of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome x -MONDO:0017009 MONDO:equivalentTo Orphanet:263775 partial duplication of the short arm of chromosome X Partial duplication of the short arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome x -MONDO:0017010 MONDO:equivalentTo Orphanet:263783 partial duplication of the long arm of chromosome X Partial duplication of the long arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome x -MONDO:0017012 MONDO:equivalentTo Orphanet:264431 partial duplication of the short arm of chromosome 1 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 1 -MONDO:0017013 MONDO:equivalentTo Orphanet:264450 trisomy 8p Trisomy 8p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 8p -MONDO:0017014 MONDO:equivalentTo Orphanet:264656 interstitial lung disease specific to childhood Interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to childhood -MONDO:0017015 MONDO:equivalentTo Orphanet:264665 primary interstitial lung disease specific to childhood Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary interstitial lung disease specific to childhood -MONDO:0017018 MONDO:equivalentTo Orphanet:264691 isolated pulmonary capillaritis Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated pulmonary capillaritis -MONDO:0017019 MONDO:equivalentTo Orphanet:264694 interstitial lung disease specific to infancy Interstitial lung disease specific to infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to infancy -MONDO:0017026 MONDO:equivalentTo Orphanet:264735 interstitial lung disease specific to adulthood Interstitial lung disease specific to adulthood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to adulthood -MONDO:0017039 MONDO:equivalentTo Orphanet:264978 drug or radiation exposure-related interstitial lung disease Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug or radiation exposure-related interstitial lung disease -MONDO:0017041 MONDO:equivalentTo Orphanet:2653 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome -MONDO:0017042 MONDO:equivalentTo Orphanet:2655 thanatophoric dysplasia Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia -MONDO:0017043 MONDO:equivalentTo Orphanet:2665 congenital mesoblastic nephroma Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mesoblastic nephroma -MONDO:0017044 MONDO:equivalentTo Orphanet:2666 adult familial nephronophthisis-spastic quadriparesia syndrome Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult familial nephronophthisis-spastic quadriparesia syndrome -MONDO:0017048 MONDO:equivalentTo Orphanet:26790 pseudomyxoma peritonei Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyxoma peritonei -MONDO:0017049 MONDO:equivalentTo Orphanet:2680 hypomyelination neuropathy-arthrogryposis syndrome Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination neuropathy-arthrogryposis syndrome -MONDO:0017050 MONDO:equivalentTo Orphanet:268139 intraocular medulloepithelioma Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraocular medulloepithelioma -MONDO:0017051 MONDO:equivalentTo Orphanet:268145 classic maple syrup urine disease Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic maple syrup urine disease -MONDO:0017052 MONDO:equivalentTo Orphanet:268162 intermediate maple syrup urine disease Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate maple syrup urine disease -MONDO:0017053 MONDO:equivalentTo Orphanet:268173 intermittent maple syrup urine disease Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent maple syrup urine disease -MONDO:0017054 MONDO:equivalentTo Orphanet:268184 thiamine-responsive maple syrup urine disease Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiamine-responsive maple syrup urine disease -MONDO:0017055 MONDO:equivalentTo Orphanet:268249 mycophenolate mofetil embryopathy Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycophenolate mofetil embryopathy -MONDO:0017056 MONDO:equivalentTo Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion -MONDO:0017058 MONDO:equivalentTo Orphanet:268337 autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive intermediate charcot-marie-tooth disease -MONDO:0017060 MONDO:equivalentTo Orphanet:268363 open iniencephaly Open iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label open iniencephaly -MONDO:0017061 MONDO:equivalentTo Orphanet:268366 closed iniencephaly Closed iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label closed iniencephaly -MONDO:0017077 MONDO:equivalentTo Orphanet:268813 myelocystocele Myelocystocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelocystocele -MONDO:0017078 MONDO:equivalentTo Orphanet:268817 cephalocele Cephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cephalocele -MONDO:0017080 MONDO:equivalentTo Orphanet:268823 occipital encephalocele Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele -MONDO:0017081 MONDO:equivalentTo Orphanet:268826 parietal encephalocele Parietal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parietal encephalocele -MONDO:0017082 MONDO:equivalentTo Orphanet:268829 basal encephalocele Basal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label basal encephalocele -MONDO:0017086 MONDO:equivalentTo Orphanet:268861 primary tethered cord syndrome Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tethered cord syndrome -MONDO:0017087 MONDO:equivalentTo Orphanet:268865 neurenteric cyst Neurenteric cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurenteric cyst -MONDO:0017088 MONDO:equivalentTo Orphanet:268868 isolated amyelia Isolated amyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated amyelia -MONDO:0017089 MONDO:equivalentTo Orphanet:268920 isolated megalencephaly Isolated megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated megalencephaly -MONDO:0017091 MONDO:equivalentTo Orphanet:268940 bilateral polymicrogyria Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral polymicrogyria -MONDO:0017092 MONDO:equivalentTo Orphanet:268943 unilateral polymicrogyria Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral polymicrogyria -MONDO:0017093 MONDO:equivalentTo Orphanet:268947 unilateral focal polymicrogyria Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral focal polymicrogyria -MONDO:0017094 MONDO:equivalentTo Orphanet:268950 cerebral cortical dysplasia Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral cortical dysplasia -MONDO:0017095 MONDO:equivalentTo Orphanet:268961 isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type i -MONDO:0017096 MONDO:equivalentTo Orphanet:268973 isolated focal cortical dysplasia type Ia Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ia -MONDO:0017097 MONDO:equivalentTo Orphanet:268980 isolated focal cortical dysplasia type Ib Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ib -MONDO:0017098 MONDO:equivalentTo Orphanet:268987 isolated focal cortical dysplasia type Ic Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ic -MONDO:0017100 MONDO:equivalentTo Orphanet:2690 neutropenia-monocytopenia-deafness syndrome Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia-monocytopenia-deafness syndrome -MONDO:0017101 MONDO:equivalentTo Orphanet:269001 isolated focal cortical dysplasia type IIa Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type iia -MONDO:0017102 MONDO:equivalentTo Orphanet:269008 isolated focal cortical dysplasia type IIb Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type iib -MONDO:0017103 MONDO:equivalentTo Orphanet:269190 encephaloclastic disorder Encephaloclastic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephaloclastic disorder -MONDO:0017105 MONDO:equivalentTo Orphanet:269197 glioependymal/ependymal cyst Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glioependymal/ependymal cyst -MONDO:0017107 MONDO:equivalentTo Orphanet:269203 isolated cerebellar vermis agenesis Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cerebellar vermis agenesis -MONDO:0017108 MONDO:equivalentTo Orphanet:269206 isolated total cerebellar vermis agenesis Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated total cerebellar vermis agenesis -MONDO:0017109 MONDO:equivalentTo Orphanet:269209 isolated partial cerebellar vermis agenesis Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated partial cerebellar vermis agenesis -MONDO:0017110 MONDO:equivalentTo Orphanet:269212 isolated Dandy-Walker malformation with hydrocephalus Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dandy-walker malformation with hydrocephalus -MONDO:0017111 MONDO:equivalentTo Orphanet:269215 isolated Dandy-Walker malformation without hydrocephalus Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dandy-walker malformation without hydrocephalus -MONDO:0017112 MONDO:equivalentTo Orphanet:269218 isolated unilateral hemispheric cerebellar hypoplasia Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated unilateral hemispheric cerebellar hypoplasia -MONDO:0017113 MONDO:equivalentTo Orphanet:269221 isolated bilateral hemispheric cerebellar hypoplasia Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated bilateral hemispheric cerebellar hypoplasia -MONDO:0017116 MONDO:equivalentTo Orphanet:269505 congenital communicating hydrocephalus Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital communicating hydrocephalus -MONDO:0017117 MONDO:equivalentTo Orphanet:269510 congenital non-communicating hydrocephalus Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital non-communicating hydrocephalus -MONDO:0017123 MONDO:equivalentTo Orphanet:2697 arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0017124 MONDO:equivalentTo Orphanet:2700 noma Noma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noma -MONDO:0017134 MONDO:equivalentTo Orphanet:2722 odonto-onycho dysplasia-alopecia syndrome Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-onycho dysplasia-alopecia syndrome -MONDO:0017135 MONDO:equivalentTo Orphanet:2732 olivopontocerebellar atrophy-deafness syndrome Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olivopontocerebellar atrophy-deafness syndrome -MONDO:0017136 MONDO:equivalentTo Orphanet:2733 omodysplasia Omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omodysplasia -MONDO:0017137 MONDO:equivalentTo Orphanet:2737 onchocerciasis Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis -MONDO:0017139 MONDO:equivalentTo Orphanet:2749 oromandibular-limb hypogenesis syndrome Oromandibular-limb hypogenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular-limb hypogenesis syndrome -MONDO:0017140 MONDO:equivalentTo Orphanet:275543 L1 syndrome L1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l1 syndrome -MONDO:0017145 MONDO:equivalentTo Orphanet:275749 beta-thalassemia and related diseases Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia and related diseases -MONDO:0017147 MONDO:equivalentTo Orphanet:275766 idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pulmonary arterial hypertension -MONDO:0017148 MONDO:equivalentTo Orphanet:275777 heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heritable pulmonary arterial hypertension -MONDO:0017149 MONDO:equivalentTo Orphanet:275786 drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug- or toxin-induced pulmonary arterial hypertension -MONDO:0017157 MONDO:equivalentTo Orphanet:275837 pulmonary hypertension owing to lung disease and/or hypoxia Pulmonary hypertension owing to lung disease and/or hypoxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypertension owing to lung disease and/or hypoxia -MONDO:0017160 MONDO:equivalentTo Orphanet:275864 behavioral variant of frontotemporal dementia Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behavioral variant of frontotemporal dementia -MONDO:0017161 MONDO:equivalentTo Orphanet:275872 frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia with motor neuron disease -MONDO:0017164 MONDO:equivalentTo Orphanet:275944 hemolytic disease of the newborn with Kell alloimmunization Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic disease of the newborn with kell alloimmunization -MONDO:0017165 MONDO:equivalentTo Orphanet:276066 bile acid CoA ligase deficiency and defective amidation Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bile acid coa ligase deficiency and defective amidation -MONDO:0017167 MONDO:equivalentTo Orphanet:276145 malignant epithelial tumor of salivary glands Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant epithelial tumor of salivary glands -MONDO:0017168 MONDO:equivalentTo Orphanet:276148 benign epithelial tumor of salivary glands Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign epithelial tumor of salivary glands -MONDO:0017169 MONDO:equivalentTo Orphanet:276161 multiple endocrine neoplasia Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia -MONDO:0017170 MONDO:equivalentTo Orphanet:276174 idiopathic recurrent stupor Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic recurrent stupor -MONDO:0017171 MONDO:equivalentTo Orphanet:276212 mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6, rapidly progressing -MONDO:0017172 MONDO:equivalentTo Orphanet:276223 mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6, slowly progressing -MONDO:0017174 MONDO:equivalentTo Orphanet:276238 Machado-Joseph disease type 1 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 1 -MONDO:0017175 MONDO:equivalentTo Orphanet:276241 Machado-Joseph disease type 2 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 2 -MONDO:0017176 MONDO:equivalentTo Orphanet:276244 Machado-Joseph disease type 3 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 3 -MONDO:0017177 MONDO:equivalentTo Orphanet:276280 hemihyperplasia-multiple lipomatosis syndrome Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemihyperplasia-multiple lipomatosis syndrome -MONDO:0017178 MONDO:equivalentTo Orphanet:2764 osteochondritis dissecans Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans -MONDO:0017180 MONDO:equivalentTo Orphanet:276422 10q22.3q23.3 microduplication syndrome 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 10q22.3q23.3 microduplication syndrome -MONDO:0017181 MONDO:equivalentTo Orphanet:276429 hypnic headache Hypnic headache semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypnic headache -MONDO:0017182 MONDO:equivalentTo Orphanet:276525 familial hyperinsulinism Familial hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinsulinism -MONDO:0017183 MONDO:equivalentTo Orphanet:276556 hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to ucp2 deficiency -MONDO:0017184 MONDO:equivalentTo Orphanet:276575 autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hyperinsulinism due to sur1 deficiency -MONDO:0017185 MONDO:equivalentTo Orphanet:276580 autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hyperinsulinism due to kir6.2 deficiency -MONDO:0017186 MONDO:equivalentTo Orphanet:276585 diazoxide-resistant hyperinsulinism Diazoxide-resistant hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant hyperinsulinism -MONDO:0017187 MONDO:equivalentTo Orphanet:276598 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism due to sur1 deficiency -MONDO:0017188 MONDO:equivalentTo Orphanet:276603 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency -MONDO:0017190 MONDO:equivalentTo Orphanet:276621 sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic pheochromocytoma/secreting paraganglioma -MONDO:0017193 MONDO:equivalentTo Orphanet:276630 symptomatic form of Coffin-Lowry syndrome in female carriers Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of coffin-lowry syndrome in female carriers -MONDO:0017194 MONDO:equivalentTo Orphanet:2768 Blount disease Blount disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blount disease -MONDO:0017195 MONDO:equivalentTo Orphanet:2771 Bruck syndrome Bruck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruck syndrome -MONDO:0017196 MONDO:equivalentTo Orphanet:2773 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome -MONDO:0017197 MONDO:equivalentTo Orphanet:2779 osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopathia striata-pigmentary dermopathy-white forelock syndrome -MONDO:0017199 MONDO:equivalentTo Orphanet:2787 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome -MONDO:0017201 MONDO:equivalentTo Orphanet:279882 Spasmus nutans Spasmus nutans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spasmus nutans -MONDO:0017202 MONDO:equivalentTo Orphanet:279888 acute endophthalmitis Acute endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute endophthalmitis -MONDO:0017203 MONDO:equivalentTo Orphanet:279891 chronic endophthalmitis Chronic endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic endophthalmitis -MONDO:0017204 MONDO:equivalentTo Orphanet:279894 toxic maculopathy due to antimalarial drugs Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic maculopathy due to antimalarial drugs -MONDO:0017205 MONDO:equivalentTo Orphanet:279897 primary oculocerebral lymphoma Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary oculocerebral lymphoma -MONDO:0017207 MONDO:equivalentTo Orphanet:279911 primary organ-specific lymphoma Primary organ-specific lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary organ-specific lymphoma -MONDO:0017209 MONDO:equivalentTo Orphanet:279919 infectious posterior uveitis Infectious posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious posterior uveitis -MONDO:0017210 MONDO:equivalentTo Orphanet:279922 infectious anterior uveitis Infectious anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious anterior uveitis -MONDO:0017211 MONDO:equivalentTo Orphanet:279925 infectious panuveitis Infectious panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious panuveitis -MONDO:0017212 MONDO:equivalentTo Orphanet:279928 paraneoplastic uveitis Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic uveitis -MONDO:0017213 MONDO:equivalentTo Orphanet:279947 postorgasmic illness syndrome Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postorgasmic illness syndrome -MONDO:0017214 MONDO:equivalentTo Orphanet:28 vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-responsive methylmalonic acidemia -MONDO:0017215 MONDO:equivalentTo Orphanet:280062 calciphylaxis Calciphylaxis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calciphylaxis -MONDO:0017216 MONDO:equivalentTo Orphanet:280065 calciphylaxis cutis Calciphylaxis cutis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calciphylaxis cutis -MONDO:0017217 MONDO:equivalentTo Orphanet:280068 visceral calciphylaxis Visceral calciphylaxis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral calciphylaxis -MONDO:0017219 MONDO:equivalentTo Orphanet:280200 microform holoprosencephaly Microform holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microform holoprosencephaly -MONDO:0017220 MONDO:equivalentTo Orphanet:280205 laryngotracheoesophageal cleft type 0 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 0 -MONDO:0017221 MONDO:equivalentTo Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, connatal form -MONDO:0017222 MONDO:equivalentTo Orphanet:280219 Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, classic form -MONDO:0017223 MONDO:equivalentTo Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, transitional form -MONDO:0017224 MONDO:equivalentTo Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease in female carriers -MONDO:0017225 MONDO:equivalentTo Orphanet:280234 null syndrome Null syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label null syndrome -MONDO:0017226 MONDO:equivalentTo Orphanet:280270 Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher-like disease -MONDO:0017227 MONDO:equivalentTo Orphanet:280302 autoimmune pancreatitis type 1 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis type 1 -MONDO:0017228 MONDO:equivalentTo Orphanet:280315 autoimmune pancreatitis type 2 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis type 2 -MONDO:0017230 MONDO:equivalentTo Orphanet:280365 autosomal semi-dominant severe lipodystrophic laminopathy Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal semi-dominant severe lipodystrophic laminopathy -MONDO:0017231 MONDO:equivalentTo Orphanet:280379 erythropoietic uroporphyria associated with myeloid malignancy Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic uroporphyria associated with myeloid malignancy -MONDO:0017232 MONDO:equivalentTo Orphanet:280384 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome -MONDO:0017233 MONDO:equivalentTo Orphanet:280397 familial Alzheimer-like prion disease Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial alzheimer-like prion disease -MONDO:0017235 MONDO:equivalentTo Orphanet:280403 familial omphalocele syndrome with facial dysmorphism Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial omphalocele syndrome with facial dysmorphism -MONDO:0017237 MONDO:equivalentTo Orphanet:280598 hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensorimotor neuropathy with hyperelastic skin -MONDO:0017238 MONDO:equivalentTo Orphanet:280615 hemoglobinopathy Toms River Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy toms river -MONDO:0017239 MONDO:equivalentTo Orphanet:280628 familial progressive hyper- and hypopigmentation Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive hyper- and hypopigmentation -MONDO:0017242 MONDO:equivalentTo Orphanet:280779 cutaneous collagenous vasculopathy Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous collagenous vasculopathy -MONDO:0017243 MONDO:equivalentTo Orphanet:280785 bullous diffuse cutaneous mastocytosis Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous diffuse cutaneous mastocytosis -MONDO:0017244 MONDO:equivalentTo Orphanet:280794 pseudoxanthomatous diffuse cutaneous mastocytosis Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthomatous diffuse cutaneous mastocytosis -MONDO:0017245 MONDO:equivalentTo Orphanet:280802 intralobar congenital pulmonary sequestration Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intralobar congenital pulmonary sequestration -MONDO:0017246 MONDO:equivalentTo Orphanet:280811 extralobar congenital pulmonary sequestration Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extralobar congenital pulmonary sequestration -MONDO:0017247 MONDO:equivalentTo Orphanet:280821 communicating congenital bronchopulmonary-foregut malformation Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating congenital bronchopulmonary-foregut malformation -MONDO:0017248 MONDO:equivalentTo Orphanet:280827 congenital pulmonary airway malformation type 0 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 0 -MONDO:0017249 MONDO:equivalentTo Orphanet:280832 congenital pulmonary airway malformation type 1 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 1 -MONDO:0017250 MONDO:equivalentTo Orphanet:280840 congenital pulmonary airway malformation type 2 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 2 -MONDO:0017251 MONDO:equivalentTo Orphanet:280847 congenital pulmonary airway malformation type 3 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 3 -MONDO:0017252 MONDO:equivalentTo Orphanet:280854 congenital pulmonary airway malformation type 4 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 4 -MONDO:0017255 MONDO:equivalentTo Orphanet:280898 panuveitis Panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panuveitis -MONDO:0017257 MONDO:equivalentTo Orphanet:280917 idiopathic posterior uveitis Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic posterior uveitis -MONDO:0017258 MONDO:equivalentTo Orphanet:280921 idiopathic panuveitis Idiopathic panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic panuveitis -MONDO:0017264 MONDO:equivalentTo Orphanet:281090 syndromic recessive X-linked ichthyosis Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic recessive x-linked ichthyosis -MONDO:0017265 MONDO:equivalentTo Orphanet:281097 autosomal recessive congenital ichthyosis Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive congenital ichthyosis -MONDO:0017266 MONDO:equivalentTo Orphanet:281103 keratinopathic ichthyosis Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratinopathic ichthyosis -MONDO:0017268 MONDO:equivalentTo Orphanet:281127 acral self-healing collodion baby Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral self-healing collodion baby -MONDO:0017269 MONDO:equivalentTo Orphanet:281210 X-linked ichthyosis syndrome X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked ichthyosis syndrome -MONDO:0017275 MONDO:equivalentTo Orphanet:2819 spastic paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-facial-cutaneous lesions syndrome -MONDO:0017276 MONDO:equivalentTo Orphanet:282 frontotemporal dementia Frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia -MONDO:0017277 MONDO:equivalentTo Orphanet:282124 partial deletion of chromosome 12 Partial deletion of chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 12 -MONDO:0017278 MONDO:equivalentTo Orphanet:282196 autoimmune polyendocrinopathy Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy -MONDO:0017279 MONDO:equivalentTo Orphanet:2828 young-onset Parkinson disease Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label young-onset parkinson disease -MONDO:0017280 MONDO:equivalentTo Orphanet:283 demodicidosis Demodicidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label demodicidosis -MONDO:0017281 MONDO:equivalentTo Orphanet:2838 renal caliceal diverticuli-deafness syndrome Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal caliceal diverticuli-deafness syndrome -MONDO:0017282 MONDO:equivalentTo Orphanet:284 alveolar echinococcosis Alveolar echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alveolar echinococcosis -MONDO:0017284 MONDO:equivalentTo Orphanet:284180 Xp22.13p22.2 duplication syndrome Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xp22.13p22.2 duplication syndrome -MONDO:0017285 MONDO:equivalentTo Orphanet:2842 penoscrotal transposition Penoscrotal transposition semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label penoscrotal transposition -MONDO:0017286 MONDO:equivalentTo Orphanet:284227 tempi syndrome TEMPI syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tempi syndrome -MONDO:0017287 MONDO:equivalentTo Orphanet:284264 IgG4-related disease IgG4-related disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related disease -MONDO:0017289 MONDO:equivalentTo Orphanet:284362 fetal lung interstitial tumor Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor -MONDO:0017290 MONDO:equivalentTo Orphanet:284385 familial intrahepatic cholestasis Familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial intrahepatic cholestasis -MONDO:0017291 MONDO:equivalentTo Orphanet:284388 reversible cerebral vasoconstriction syndrome Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reversible cerebral vasoconstriction syndrome -MONDO:0017292 MONDO:equivalentTo Orphanet:284395 well-differentiated fetal adenocarcinoma of the lung Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated fetal adenocarcinoma of the lung -MONDO:0017295 MONDO:equivalentTo Orphanet:284411 glycerol kinase deficiency, juvenile form Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycerol kinase deficiency, juvenile form -MONDO:0017296 MONDO:equivalentTo Orphanet:284414 glycerol kinase deficiency, adult form Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycerol kinase deficiency, adult form -MONDO:0017298 MONDO:equivalentTo Orphanet:284454 acute zonal occult outer retinopathy Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute zonal occult outer retinopathy -MONDO:0017299 MONDO:equivalentTo Orphanet:284460 acute annular outer retinopathy Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute annular outer retinopathy -MONDO:0017300 MONDO:equivalentTo Orphanet:2846 congenital pericardium anomaly Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pericardium anomaly -MONDO:0017301 MONDO:equivalentTo Orphanet:2847 pericardial and diaphragmatic defect Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pericardial and diaphragmatic defect -MONDO:0017303 MONDO:equivalentTo Orphanet:284790 qualitative or quantitative defects of tropomyosin Qualitative or quantitative defects of tropomyosin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of tropomyosin -MONDO:0017304 MONDO:equivalentTo Orphanet:284804 ocular albinism Ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism -MONDO:0017305 MONDO:equivalentTo Orphanet:284811 syndromic oculocutaneous albinism Syndromic oculocutaneous albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic oculocutaneous albinism -MONDO:0017306 MONDO:equivalentTo Orphanet:284814 disorder of phenylalanine metabolism Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of phenylalanine metabolism -MONDO:0017307 MONDO:equivalentTo Orphanet:284818 disorder of tyrosine metabolism Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of tyrosine metabolism -MONDO:0017309 MONDO:equivalentTo Orphanet:284979 neonatal Marfan syndrome Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal marfan syndrome -MONDO:0017312 MONDO:equivalentTo Orphanet:2855 Perrault syndrome Perrault syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perrault syndrome -MONDO:0017313 MONDO:equivalentTo Orphanet:285657 disorder of folate metabolism and transport Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of folate metabolism and transport -MONDO:0017315 MONDO:equivalentTo Orphanet:2865 short stature-webbed neck-heart disease syndrome Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-webbed neck-heart disease syndrome -MONDO:0017316 MONDO:equivalentTo Orphanet:2866 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-deafness-neutrophil dysfunction-dysmorphism syndrome -MONDO:0017317 MONDO:equivalentTo Orphanet:2874 phakomatosis pigmentokeratotica Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis pigmentokeratotica -MONDO:0017318 MONDO:equivalentTo Orphanet:2875 phakomatosis pigmentovascularis Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis pigmentovascularis -MONDO:0017319 MONDO:equivalentTo Orphanet:288 hereditary elliptocytosis Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis -MONDO:0017320 MONDO:equivalentTo Orphanet:2880 phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phosphoenolpyruvate carboxykinase deficiency -MONDO:0017321 MONDO:equivalentTo Orphanet:2890 pili torti-onychodysplasia syndrome Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti-onychodysplasia syndrome -MONDO:0017322 MONDO:equivalentTo Orphanet:289098 disorders of vitamin D metabolism Disorders of vitamin D metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorders of vitamin d metabolism -MONDO:0017323 MONDO:equivalentTo Orphanet:289103 hypocalcemic rickets Hypocalcemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcemic rickets -MONDO:0017324 MONDO:equivalentTo Orphanet:289176 autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hypophosphatemic rickets -MONDO:0017325 MONDO:equivalentTo Orphanet:289266 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation -MONDO:0017326 MONDO:equivalentTo Orphanet:289347 infective dermatitis associated with HTLV-1 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infective dermatitis associated with htlv-1 -MONDO:0017327 MONDO:equivalentTo Orphanet:289356 primary non-gestational choriocarcinoma of ovary Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary non-gestational choriocarcinoma of ovary -MONDO:0017328 MONDO:equivalentTo Orphanet:289362 non-central nervous system-localized embryonal carcinoma Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-central nervous system-localized embryonal carcinoma -MONDO:0017329 MONDO:equivalentTo Orphanet:289365 familial vesicoureteral reflux Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial vesicoureteral reflux -MONDO:0017330 MONDO:equivalentTo Orphanet:289385 malignancy diagnosed during pregnancy Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignancy diagnosed during pregnancy -MONDO:0017334 MONDO:equivalentTo Orphanet:289513 12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12q15q21.1 microdeletion syndrome -MONDO:0017335 MONDO:equivalentTo Orphanet:289522 microtriplication 11q24.1 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtriplication 11q24.1 -MONDO:0017337 MONDO:equivalentTo Orphanet:289548 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency -MONDO:0017339 MONDO:equivalentTo Orphanet:289586 exfoliative ichthyosis Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative ichthyosis -MONDO:0017340 MONDO:equivalentTo Orphanet:289596 juvenile nasopharyngeal angiofibroma Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile nasopharyngeal angiofibroma -MONDO:0017342 MONDO:equivalentTo Orphanet:289638 Epstein-Barr virus-related tumor Epstein-Barr Virus-related tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-related tumor -MONDO:0017343 MONDO:equivalentTo Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated malignant lymphoproliferative disorder -MONDO:0017344 MONDO:equivalentTo Orphanet:289651 Epstein-Barr virus-associated carcinoma Epstein-Barr Virus-associated carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated carcinoma -MONDO:0017345 MONDO:equivalentTo Orphanet:289656 Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr Virus-associated mesenchymal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated mesenchymal tumor -MONDO:0017346 MONDO:equivalentTo Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly -MONDO:0017347 MONDO:equivalentTo Orphanet:289666 plasmablastic lymphoma Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmablastic lymphoma -MONDO:0017348 MONDO:equivalentTo Orphanet:289682 lymphoepithelial-like carcinoma Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoepithelial-like carcinoma -MONDO:0017349 MONDO:equivalentTo Orphanet:289685 myopericytoma Myopericytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopericytoma -MONDO:0017352 MONDO:equivalentTo Orphanet:289841 disorder of glutamine metabolism Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glutamine metabolism -MONDO:0017353 MONDO:equivalentTo Orphanet:289857 neonatal glycine encephalopathy Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal glycine encephalopathy -MONDO:0017354 MONDO:equivalentTo Orphanet:289860 infantile glycine encephalopathy Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile glycine encephalopathy -MONDO:0017357 MONDO:equivalentTo Orphanet:289877 transient hyperammonemia of the newborn Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient hyperammonemia of the newborn -MONDO:0017359 MONDO:equivalentTo Orphanet:289902 3-methylglutaconic aciduria 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria -MONDO:0017360 MONDO:equivalentTo Orphanet:289916 vitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-unresponsive methylmalonic acidemia type mut0 -MONDO:0017361 MONDO:equivalentTo Orphanet:290 congenital rubella syndrome Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome -MONDO:0017362 MONDO:equivalentTo Orphanet:2901 neuralgic amyotrophy Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy -MONDO:0017363 MONDO:equivalentTo Orphanet:2902 idiopathic chronic eosinophilic pneumonia Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic chronic eosinophilic pneumonia -MONDO:0017364 MONDO:equivalentTo Orphanet:2905 POEMS syndrome POEMS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poems syndrome -MONDO:0017366 MONDO:equivalentTo Orphanet:29072 hereditary pheochromocytoma-paraganglioma Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary pheochromocytoma-paraganglioma -MONDO:0017372 MONDO:equivalentTo Orphanet:291 congenital varicella syndrome Congenital varicella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital varicella syndrome -MONDO:0017373 MONDO:equivalentTo Orphanet:2912 poliomyelitis Poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poliomyelitis -MONDO:0017375 MONDO:equivalentTo Orphanet:292 congenital enterovirus infection Congenital enterovirus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enterovirus infection -MONDO:0017376 MONDO:equivalentTo Orphanet:29207 reactive arthritis Reactive arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reactive arthritis -MONDO:0017377 MONDO:equivalentTo Orphanet:2921 preaxial polydactyly-colobomata-intellectual disability syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preaxial polydactyly-colobomata-intellectual disability syndrome -MONDO:0017379 MONDO:equivalentTo Orphanet:2928 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyneuropathy-intellectual disability-acromicria-premature menopause syndrome -MONDO:0017380 MONDO:equivalentTo Orphanet:2929 juvenile polyposis syndrome Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polyposis syndrome -MONDO:0017381 MONDO:equivalentTo Orphanet:293 congenital herpes simplex virus infection Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital herpes simplex virus infection -MONDO:0017382 MONDO:equivalentTo Orphanet:293144 familial clubfoot due to 5q31 microdeletion Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to 5q31 microdeletion -MONDO:0017383 MONDO:equivalentTo Orphanet:293150 familial clubfoot due to PITX1 point mutation Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to pitx1 point mutation -MONDO:0017384 MONDO:equivalentTo Orphanet:293173 acute generalized exanthematous pustulosis Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute generalized exanthematous pustulosis -MONDO:0017386 MONDO:equivalentTo Orphanet:293199 pleomorphic rhabdomyosarcoma Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic rhabdomyosarcoma -MONDO:0017387 MONDO:equivalentTo Orphanet:293202 epithelioid sarcoma Epithelioid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid sarcoma -MONDO:0017389 MONDO:equivalentTo Orphanet:293284 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria -MONDO:0017391 MONDO:equivalentTo Orphanet:293375 Grayson-Wilbrandt corneal dystrophy Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grayson-wilbrandt corneal dystrophy -MONDO:0017392 MONDO:equivalentTo Orphanet:293462 pre-descemet corneal dystrophy Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pre-descemet corneal dystrophy -MONDO:0017394 MONDO:equivalentTo Orphanet:293807 ketamine-induced biliary dilatation Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ketamine-induced biliary dilatation -MONDO:0017396 MONDO:equivalentTo Orphanet:293815 toxic dermatosis Toxic dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic dermatosis -MONDO:0017398 MONDO:equivalentTo Orphanet:293843 3MC syndrome 3MC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3mc syndrome -MONDO:0017401 MONDO:equivalentTo Orphanet:293888 familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, left dominant form -MONDO:0017402 MONDO:equivalentTo Orphanet:293899 familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, biventricular form -MONDO:0017403 MONDO:equivalentTo Orphanet:293910 familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, right dominant form -MONDO:0017404 MONDO:equivalentTo Orphanet:293939 distal Xq28 microduplication syndrome Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal xq28 microduplication syndrome -MONDO:0017405 MONDO:equivalentTo Orphanet:293948 1p21.3 microdeletion syndrome 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1p21.3 microdeletion syndrome -MONDO:0017406 MONDO:equivalentTo Orphanet:293967 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome -MONDO:0017408 MONDO:equivalentTo Orphanet:293987 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome -MONDO:0017409 MONDO:equivalentTo Orphanet:294 fetal cytomegalovirus syndrome Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal cytomegalovirus syndrome -MONDO:0017410 MONDO:equivalentTo Orphanet:2940 porencephaly Porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly -MONDO:0017411 MONDO:equivalentTo Orphanet:294023 neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal inflammatory skin and bowel disease -MONDO:0017415 MONDO:equivalentTo Orphanet:294060 multiple pterygium syndrome Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple pterygium syndrome -MONDO:0017416 MONDO:equivalentTo Orphanet:2942 postpoliomyelitis syndrome Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpoliomyelitis syndrome -MONDO:0017417 MONDO:equivalentTo Orphanet:294415 renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal-hepatic-pancreatic dysplasia -MONDO:0017418 MONDO:equivalentTo Orphanet:294422 chronic intestinal failure Chronic intestinal failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intestinal failure -MONDO:0017420 MONDO:equivalentTo Orphanet:294927 intercalary limb defects Intercalary limb defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intercalary limb defects -MONDO:0017427 MONDO:equivalentTo Orphanet:294944 congenital deformities of limbs Congenital deformities of limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital deformities of limbs -MONDO:0017428 MONDO:equivalentTo Orphanet:294947 congenital deformities of fingers Congenital deformities of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital deformities of fingers -MONDO:0017429 MONDO:equivalentTo Orphanet:294949 joint formation defects Joint formation defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joint formation defects -MONDO:0017435 MONDO:equivalentTo Orphanet:294963 popliteal pterygium syndrome Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome -MONDO:0017436 MONDO:equivalentTo Orphanet:294965 lethal congenital contracture syndrome Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal congenital contracture syndrome -MONDO:0017437 MONDO:equivalentTo Orphanet:294967 amelia of upper limb Amelia of upper limb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelia of upper limb -MONDO:0017438 MONDO:equivalentTo Orphanet:294969 amelia of lower limb Amelia of lower limb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelia of lower limb -MONDO:0017439 MONDO:equivalentTo Orphanet:294971 tetra-amelia Tetra-amelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetra-amelia -MONDO:0017440 MONDO:equivalentTo Orphanet:294973 humeral agenesis/hypoplasia Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeral agenesis/hypoplasia -MONDO:0017441 MONDO:equivalentTo Orphanet:294975 congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present -MONDO:0017442 MONDO:equivalentTo Orphanet:294977 congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present -MONDO:0017443 MONDO:equivalentTo Orphanet:294979 congenital absence of both forearm and hand Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand -MONDO:0017444 MONDO:equivalentTo Orphanet:294981 congenital absence of both lower leg and foot Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot -MONDO:0017445 MONDO:equivalentTo Orphanet:294983 acheiria Acheiria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acheiria -MONDO:0017446 MONDO:equivalentTo Orphanet:294986 apodia Apodia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apodia -MONDO:0017453 MONDO:equivalentTo Orphanet:295 fetal parvovirus syndrome Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal parvovirus syndrome -MONDO:0017455 MONDO:equivalentTo Orphanet:295002 hyperphalangy Hyperphalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphalangy -MONDO:0017460 MONDO:equivalentTo Orphanet:295012 syndactyly type 6 Syndactyly type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 6 -MONDO:0017461 MONDO:equivalentTo Orphanet:295014 familial isolated clinodactyly of fingers Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated clinodactyly of fingers -MONDO:0017462 MONDO:equivalentTo Orphanet:295018 congenital pseudoarthrosis of the tibia Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the tibia -MONDO:0017463 MONDO:equivalentTo Orphanet:295020 congenital pseudoarthrosis of the femur Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the femur -MONDO:0017464 MONDO:equivalentTo Orphanet:295022 congenital pseudoarthrosis of the fibula Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the fibula -MONDO:0017465 MONDO:equivalentTo Orphanet:295024 congenital pseudoarthrosis of the radius Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the radius -MONDO:0017466 MONDO:equivalentTo Orphanet:295026 congenital pseudoarthrosis of the ulna Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the ulna -MONDO:0017467 MONDO:equivalentTo Orphanet:295028 tibio-fibular synostosis Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibio-fibular synostosis -MONDO:0017470 MONDO:equivalentTo Orphanet:295034 congenital knee dislocation Congenital knee dislocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital knee dislocation -MONDO:0017471 MONDO:equivalentTo Orphanet:295036 congenital patella dislocation Congenital patella dislocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital patella dislocation -MONDO:0017474 MONDO:equivalentTo Orphanet:295044 macrodactyly of fingers Macrodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers -MONDO:0017475 MONDO:equivalentTo Orphanet:295047 macrodactyly of toes Macrodactyly of toes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes -MONDO:0017476 MONDO:equivalentTo Orphanet:295049 upper limb hypertrophy Upper limb hypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb hypertrophy -MONDO:0017477 MONDO:equivalentTo Orphanet:295051 lower limb hypertrophy Lower limb hypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower limb hypertrophy -MONDO:0017543 MONDO:equivalentTo Orphanet:295189 zygodactyly type 2 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 2 -MONDO:0017544 MONDO:equivalentTo Orphanet:295191 zygodactyly type 3 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 3 -MONDO:0017545 MONDO:equivalentTo Orphanet:295193 zygodactyly type 4 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 4 -MONDO:0017546 MONDO:equivalentTo Orphanet:295201 congenital vertical talus, unilateral Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus, unilateral -MONDO:0017547 MONDO:equivalentTo Orphanet:295203 congenital vertical talus, bilateral Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus, bilateral -MONDO:0017552 MONDO:equivalentTo Orphanet:295213 humero-ulnar synostosis, unilateral Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis, unilateral -MONDO:0017553 MONDO:equivalentTo Orphanet:295215 humero-ulnar synostosis, bilateral Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis, bilateral -MONDO:0017554 MONDO:equivalentTo Orphanet:295217 radio-ulnar synostosis, unilateral Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis, unilateral -MONDO:0017555 MONDO:equivalentTo Orphanet:295219 radio-ulnar synostosis, bilateral Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis, bilateral -MONDO:0017558 MONDO:equivalentTo Orphanet:295225 congenital elbow dislocation, unilateral Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital elbow dislocation, unilateral -MONDO:0017559 MONDO:equivalentTo Orphanet:295227 congenital elbow dislocation, bilateral Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital elbow dislocation, bilateral -MONDO:0017560 MONDO:equivalentTo Orphanet:295229 congenital genu recurvatum Congenital genu recurvatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital genu recurvatum -MONDO:0017561 MONDO:equivalentTo Orphanet:295232 congenital genu flexum Congenital genu flexum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital genu flexum -MONDO:0017564 MONDO:equivalentTo Orphanet:295239 macrodactyly of fingers, unilateral Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers, unilateral -MONDO:0017565 MONDO:equivalentTo Orphanet:295241 macrodactyly of fingers, bilateral Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers, bilateral -MONDO:0017566 MONDO:equivalentTo Orphanet:295243 macrodactyly of toes, unilateral Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes, unilateral -MONDO:0017567 MONDO:equivalentTo Orphanet:295245 macrodactyly of toes, bilateral Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes, bilateral -MONDO:0017569 MONDO:equivalentTo Orphanet:2962 de Barsy syndrome De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label de barsy syndrome -MONDO:0017570 MONDO:equivalentTo Orphanet:2968 leukocyte adhesion deficiency Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency -MONDO:0017571 MONDO:equivalentTo Orphanet:2969 Proteus-like syndrome Proteus-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome -MONDO:0017572 MONDO:equivalentTo Orphanet:297 tick-borne encephalitis Tick-borne encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne encephalitis -MONDO:0017574 MONDO:equivalentTo Orphanet:2978 chronic intestinal pseudoobstruction Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intestinal pseudoobstruction -MONDO:0017575 MONDO:equivalentTo Orphanet:298 mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial neurogastrointestinal encephalomyopathy -MONDO:0017577 MONDO:equivalentTo Orphanet:29822 spontaneous periodic hypothermia Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous periodic hypothermia -MONDO:0017578 MONDO:equivalentTo Orphanet:298644 disorder of thiamine metabolism and transport Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of thiamine metabolism and transport -MONDO:0017579 MONDO:equivalentTo Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter cerebrofrontofacial syndrome -MONDO:0017580 MONDO:equivalentTo Orphanet:300305 11p15.4 microduplication syndrome 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 11p15.4 microduplication syndrome -MONDO:0017583 MONDO:equivalentTo Orphanet:3004 mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirror polydactyly-vertebral segmentation-limbs defects syndrome -MONDO:0017584 MONDO:equivalentTo Orphanet:300493 Sagliker syndrome Sagliker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sagliker syndrome -MONDO:0017585 MONDO:equivalentTo Orphanet:300501 painful orbital and systemic neurofibromas-marfanoid habitus syndrome Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful orbital and systemic neurofibromas-marfanoid habitus syndrome -MONDO:0017586 MONDO:equivalentTo Orphanet:300504 onychocytic matricoma Onychocytic matricoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onychocytic matricoma -MONDO:0017587 MONDO:equivalentTo Orphanet:300512 onychomatricoma Onychomatricoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onychomatricoma -MONDO:0017589 MONDO:equivalentTo Orphanet:300552 follicular cholangitis and pancreatitis Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular cholangitis and pancreatitis -MONDO:0017590 MONDO:equivalentTo Orphanet:300557 carcinoma of the ampulla of vater Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of the ampulla of vater -MONDO:0017591 MONDO:equivalentTo Orphanet:300564 combined pulmonary fibrosis-emphysema syndrome Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined pulmonary fibrosis-emphysema syndrome -MONDO:0017592 MONDO:equivalentTo Orphanet:300579 staphylococcal toxemia Staphylococcal toxemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal toxemia -MONDO:0017593 MONDO:equivalentTo Orphanet:300605 juvenile amyotrophic lateral sclerosis Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile amyotrophic lateral sclerosis -MONDO:0017594 MONDO:equivalentTo Orphanet:300842 indolent B-cell non-Hodgkin lymphoma Indolent B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent b-cell non-hodgkin lymphoma -MONDO:0017595 MONDO:equivalentTo Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma Aggressive B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive b-cell non-hodgkin lymphoma -MONDO:0017596 MONDO:equivalentTo Orphanet:300849 diffuse large B-cell lymphoma of the central nervous system Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma of the central nervous system -MONDO:0017597 MONDO:equivalentTo Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell/histiocyte rich large b cell lymphoma -MONDO:0017598 MONDO:equivalentTo Orphanet:300865 primary cutaneous anaplastic large cell lymphoma Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous anaplastic large cell lymphoma -MONDO:0017599 MONDO:equivalentTo Orphanet:300869 splenic diffuse red pulp small B-cell lymphoma Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenic diffuse red pulp small b-cell lymphoma -MONDO:0017600 MONDO:equivalentTo Orphanet:300878 hairy cell leukemia variant Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hairy cell leukemia variant -MONDO:0017601 MONDO:equivalentTo Orphanet:300888 diffuse large B-cell lymphoma with chronic inflammation Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma with chronic inflammation -MONDO:0017602 MONDO:equivalentTo Orphanet:300895 ALK-positive anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-positive anaplastic large cell lymphoma -MONDO:0017603 MONDO:equivalentTo Orphanet:300903 ALK-negative anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-negative anaplastic large cell lymphoma -MONDO:0017604 MONDO:equivalentTo Orphanet:300912 marginal zone lymphoma Marginal zone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marginal zone lymphoma -MONDO:0017609 MONDO:equivalentTo Orphanet:3033 renal tubular dysgenesis Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis -MONDO:0017610 MONDO:equivalentTo Orphanet:304 epidermolysis bullosa simplex Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex -MONDO:0017611 MONDO:equivalentTo Orphanet:304055 pituitary tumor Pituitary tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary tumor -MONDO:0017612 MONDO:equivalentTo Orphanet:305 junctional epidermolysis bullosa Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa -MONDO:0017614 MONDO:equivalentTo Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome -MONDO:0017615 MONDO:equivalentTo Orphanet:306 benign familial infantile epilepsy Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial infantile epilepsy -MONDO:0017623 MONDO:equivalentTo Orphanet:306498 PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome -MONDO:0017627 MONDO:equivalentTo Orphanet:306530 congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hereditary facial paralysis-variable hearing loss syndrome -MONDO:0017628 MONDO:equivalentTo Orphanet:306553 myospherulosis Myospherulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myospherulosis -MONDO:0017630 MONDO:equivalentTo Orphanet:306617 X-linked complicated spastic paraplegia type 1 X-linked complicated spastic paraplegia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked complicated spastic paraplegia type 1 -MONDO:0017634 MONDO:equivalentTo Orphanet:306648 non-infectious anterior uveitis Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-infectious anterior uveitis -MONDO:0017636 MONDO:equivalentTo Orphanet:306669 hemiparkinsonism-hemiatrophy syndrome Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiparkinsonism-hemiatrophy syndrome -MONDO:0017638 MONDO:equivalentTo Orphanet:306682 manganese poisoning Manganese poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label manganese poisoning -MONDO:0017648 MONDO:equivalentTo Orphanet:306731 Sydenham chorea Sydenham chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea -MONDO:0017649 MONDO:equivalentTo Orphanet:306741 hemidystonia-hemiatrophy syndrome Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemidystonia-hemiatrophy syndrome -MONDO:0017658 MONDO:equivalentTo Orphanet:306773 hyperekplexia Hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperekplexia -MONDO:0017659 MONDO:equivalentTo Orphanet:306776 sporadic hyperekplexia Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic hyperekplexia -MONDO:0017666 MONDO:equivalentTo Orphanet:307141 diffuse palmoplantar keratoderma Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse palmoplantar keratoderma -MONDO:0017668 MONDO:equivalentTo Orphanet:3074 intellectual disability-short stature-hypertelorism syndrome Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-short stature-hypertelorism syndrome -MONDO:0017672 MONDO:equivalentTo Orphanet:307837 focal palmoplantar keratoderma Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar keratoderma -MONDO:0017675 MONDO:equivalentTo Orphanet:307967 punctate palmoplantar keratoderma Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma -MONDO:0017677 MONDO:equivalentTo Orphanet:308013 focal acral hyperkeratosis Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal acral hyperkeratosis -MONDO:0017681 MONDO:equivalentTo Orphanet:308166 erythrokeratoderma variabilis progressiva Erythrokeratoderma variabilis progressiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratoderma variabilis progressiva -MONDO:0017682 MONDO:equivalentTo Orphanet:3082 intellectual disability-polydactyly-uncombable hair syndrome Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-polydactyly-uncombable hair syndrome -MONDO:0017683 MONDO:equivalentTo Orphanet:308380 methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cbldv1 -MONDO:0017684 MONDO:equivalentTo Orphanet:308407 disorder of beta and omega amino acid metabolism Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of beta and omega amino acid metabolism -MONDO:0017685 MONDO:equivalentTo Orphanet:308442 vitamin B12-responsive methylmalonic acidemia, type cblDv2 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-responsive methylmalonic acidemia, type cbldv2 -MONDO:0017687 MONDO:equivalentTo Orphanet:308451 disorder of neutral amino acid transport Disorder of neutral amino acid transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of neutral amino acid transport -MONDO:0017688 MONDO:equivalentTo Orphanet:308459 disorder of glycolysis Disorder of glycolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glycolysis -MONDO:0017689 MONDO:equivalentTo Orphanet:308463 disorder of fructose metabolism Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fructose metabolism -MONDO:0017690 MONDO:equivalentTo Orphanet:308467 disorder of galactose metabolism Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of galactose metabolism -MONDO:0017691 MONDO:equivalentTo Orphanet:308473 erythrocyte galactose epimerase deficiency Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrocyte galactose epimerase deficiency -MONDO:0017692 MONDO:equivalentTo Orphanet:308487 generalized galactose epimerase deficiency Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized galactose epimerase deficiency -MONDO:0017694 MONDO:equivalentTo Orphanet:308552 glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to acid maltase deficiency, infantile onset -MONDO:0017695 MONDO:equivalentTo Orphanet:308621 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form -MONDO:0017696 MONDO:equivalentTo Orphanet:308638 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form -MONDO:0017697 MONDO:equivalentTo Orphanet:308655 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form -MONDO:0017698 MONDO:equivalentTo Orphanet:308670 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form -MONDO:0017699 MONDO:equivalentTo Orphanet:308684 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form -MONDO:0017700 MONDO:equivalentTo Orphanet:308698 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form -MONDO:0017701 MONDO:equivalentTo Orphanet:308712 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form -MONDO:0017703 MONDO:equivalentTo Orphanet:308998 disorder of glyoxylate metabolism Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glyoxylate metabolism -MONDO:0017704 MONDO:equivalentTo Orphanet:309 familial partial epilepsy Familial partial epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial epilepsy -MONDO:0017705 MONDO:equivalentTo Orphanet:3090 congenital pulmonary venous return anomaly Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary venous return anomaly -MONDO:0017708 MONDO:equivalentTo Orphanet:309025 mevalonate kinase deficiency Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency -MONDO:0017711 MONDO:equivalentTo Orphanet:309108 pancreatic colipase deficiency Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic colipase deficiency -MONDO:0017712 MONDO:equivalentTo Orphanet:309111 combined pancreatic lipase-colipase deficiency Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined pancreatic lipase-colipase deficiency -MONDO:0017713 MONDO:equivalentTo Orphanet:309115 disorder of fatty acid oxidation and ketogenesis Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fatty acid oxidation and ketogenesis -MONDO:0017714 MONDO:equivalentTo Orphanet:309120 acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acyl-coa dehydrogenase deficiency -MONDO:0017715 MONDO:equivalentTo Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0017716 MONDO:equivalentTo Orphanet:309130 disorder of carnitine cycle and carnitine transport Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of carnitine cycle and carnitine transport -MONDO:0017719 MONDO:equivalentTo Orphanet:309144 gangliosidosis Gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gangliosidosis -MONDO:0017720 MONDO:equivalentTo Orphanet:309152 GM2 gangliosidosis GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm2 gangliosidosis -MONDO:0017721 MONDO:equivalentTo Orphanet:309155 Sandhoff disease, infantile form Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, infantile form -MONDO:0017722 MONDO:equivalentTo Orphanet:309162 Sandhoff disease, juvenile form Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, juvenile form -MONDO:0017723 MONDO:equivalentTo Orphanet:309169 Sandhoff disease, adult form Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, adult form -MONDO:0017724 MONDO:equivalentTo Orphanet:309178 Tay-Sachs disease, b variant, infantile form Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, infantile form -MONDO:0017725 MONDO:equivalentTo Orphanet:309185 Tay-Sachs disease, b variant, juvenile form Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, juvenile form -MONDO:0017726 MONDO:equivalentTo Orphanet:309192 Tay-Sachs disease, B variant, adult form Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, adult form -MONDO:0017727 MONDO:equivalentTo Orphanet:3092 fixed subaortic stenosis Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fixed subaortic stenosis -MONDO:0017728 MONDO:equivalentTo Orphanet:309239 Tay-Sachs disease, B1 variant Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b1 variant -MONDO:0017729 MONDO:equivalentTo Orphanet:309256 metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, late infantile form -MONDO:0017730 MONDO:equivalentTo Orphanet:309271 metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, adult form -MONDO:0017731 MONDO:equivalentTo Orphanet:309279 glycoproteinosis Glycoproteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycoproteinosis -MONDO:0017732 MONDO:equivalentTo Orphanet:309282 alpha-mannosidosis, infantile form Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis, infantile form -MONDO:0017733 MONDO:equivalentTo Orphanet:309288 alpha-mannosidosis, adult form Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis, adult form -MONDO:0017734 MONDO:equivalentTo Orphanet:309294 sialidosis Sialidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis -MONDO:0017735 MONDO:equivalentTo Orphanet:3093 congenital aortic valve stenosis Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aortic valve stenosis -MONDO:0017736 MONDO:equivalentTo Orphanet:309319 disorder of sialic acid metabolism Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of sialic acid metabolism -MONDO:0017737 MONDO:equivalentTo Orphanet:309331 intermediate severe Salla disease Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate severe salla disease -MONDO:0017738 MONDO:equivalentTo Orphanet:309337 lysosomal glycogen storage disease Lysosomal glycogen storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal glycogen storage disease -MONDO:0017739 MONDO:equivalentTo Orphanet:309340 disorder of lysosomal-related organelles Disorder of lysosomal-related organelles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of lysosomal-related organelles -MONDO:0017740 MONDO:equivalentTo Orphanet:309347 disorder of protein N-glycosylation Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of protein n-glycosylation -MONDO:0017741 MONDO:equivalentTo Orphanet:309447 disorder of protein O-glycosylation Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of protein o-glycosylation -MONDO:0017746 MONDO:equivalentTo Orphanet:3095 atypical Rett syndrome Atypical Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical rett syndrome -MONDO:0017747 MONDO:equivalentTo Orphanet:309505 disorder of fucoglycosan synthesis Disorder of fucoglycosan synthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fucoglycosan synthesis -MONDO:0017749 MONDO:equivalentTo Orphanet:309526 disorder of multiple glycosylation Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of multiple glycosylation -MONDO:0017750 MONDO:equivalentTo Orphanet:309568 defect in conserved oligomeric Golgi complex Defect in conserved oligomeric Golgi complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label defect in conserved oligomeric golgi complex -MONDO:0017752 MONDO:equivalentTo Orphanet:309778 defect in V-ATPase Defect in V-ATPase semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label defect in v-atpase -MONDO:0017757 MONDO:equivalentTo Orphanet:309824 disorder of metabolite absorption and transport Disorder of metabolite absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of metabolite absorption and transport -MONDO:0017758 MONDO:equivalentTo Orphanet:309827 disorder of vitamin and non-protein cofactor absorption and transport Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of vitamin and non-protein cofactor absorption and transport -MONDO:0017759 MONDO:equivalentTo Orphanet:309830 disorder of catecholamine synthesis Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of catecholamine synthesis -MONDO:0017761 MONDO:equivalentTo Orphanet:309836 disorder of mineral absorption and transport Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of mineral absorption and transport -MONDO:0017762 MONDO:equivalentTo Orphanet:309839 disorder of copper metabolism Disorder of copper metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of copper metabolism -MONDO:0017763 MONDO:equivalentTo Orphanet:309842 disorder of iron metabolism and transport Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of iron metabolism and transport -MONDO:0017765 MONDO:equivalentTo Orphanet:309848 disorder of magnesium transport Disorder of magnesium transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of magnesium transport -MONDO:0017766 MONDO:equivalentTo Orphanet:309851 disorder of manganese transport Disorder of manganese transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of manganese transport -MONDO:0017767 MONDO:equivalentTo Orphanet:3099 rheumatic fever Rheumatic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic fever -MONDO:0017768 MONDO:equivalentTo Orphanet:310 reflex epilepsy Reflex epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reflex epilepsy -MONDO:0017769 MONDO:equivalentTo Orphanet:310050 acquired immunodeficiency Acquired immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired immunodeficiency -MONDO:0017773 MONDO:equivalentTo Orphanet:31153 hypoalphalipoproteinemia Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoalphalipoproteinemia -MONDO:0017774 MONDO:equivalentTo Orphanet:31154 hypobetalipoproteinemia Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypobetalipoproteinemia -MONDO:0017775 MONDO:equivalentTo Orphanet:31202 melioidosis Melioidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melioidosis -MONDO:0017776 MONDO:equivalentTo Orphanet:31204 nocardiosis Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis -MONDO:0017778 MONDO:equivalentTo Orphanet:313 lamellar ichthyosis Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis -MONDO:0017779 MONDO:equivalentTo Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency -MONDO:0017780 MONDO:equivalentTo Orphanet:313781 20p13 microdeletion syndrome 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20p13 microdeletion syndrome -MONDO:0017781 MONDO:equivalentTo Orphanet:313884 12p12.1 microdeletion syndrome 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12p12.1 microdeletion syndrome -MONDO:0017782 MONDO:equivalentTo Orphanet:313892 developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and speech delay due to sox5 deficiency -MONDO:0017783 MONDO:equivalentTo Orphanet:313906 congenital pancreatic cyst Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst -MONDO:0017784 MONDO:equivalentTo Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated gastric carcinoma -MONDO:0017785 MONDO:equivalentTo Orphanet:313936 PENS syndrome PENS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pens syndrome -MONDO:0017786 MONDO:equivalentTo Orphanet:313947 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q23.1 microduplication syndrome -MONDO:0017787 MONDO:equivalentTo Orphanet:314 erythroderma desquamativum Erythroderma desquamativum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythroderma desquamativum -MONDO:0017789 MONDO:equivalentTo Orphanet:314017 idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic linear interstitial keratitis -MONDO:0017790 MONDO:equivalentTo Orphanet:314022 gastric adenocarcinoma and proximal polyposis of the stomach Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach -MONDO:0017791 MONDO:equivalentTo Orphanet:314029 high bone mass osteogenesis imperfecta High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high bone mass osteogenesis imperfecta -MONDO:0017792 MONDO:equivalentTo Orphanet:314034 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7p22.1 microduplication syndrome -MONDO:0017793 MONDO:equivalentTo Orphanet:314041 marfanoid habitus-inguinal hernia-advanced bone age syndrome Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfanoid habitus-inguinal hernia-advanced bone age syndrome -MONDO:0017794 MONDO:equivalentTo Orphanet:314389 Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq12-q13.3 duplication syndrome -MONDO:0017795 MONDO:equivalentTo Orphanet:314419 ameloblastoma Ameloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ameloblastoma -MONDO:0017798 MONDO:equivalentTo Orphanet:314432 Spigelian hernia-cryptorchidism syndrome Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spigelian hernia-cryptorchidism syndrome -MONDO:0017799 MONDO:equivalentTo Orphanet:314451 Meigs syndrome Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meigs syndrome -MONDO:0017800 MONDO:equivalentTo Orphanet:314459 pseudo-Meigs syndrome Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudo-meigs syndrome -MONDO:0017801 MONDO:equivalentTo Orphanet:314466 atypical Meigs syndrome Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical meigs syndrome -MONDO:0017802 MONDO:equivalentTo Orphanet:314478 ovarian fibrothecoma Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian fibrothecoma -MONDO:0017803 MONDO:equivalentTo Orphanet:314566 primary progressive apraxia of speech Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive apraxia of speech -MONDO:0017804 MONDO:equivalentTo Orphanet:314572 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome -MONDO:0017805 MONDO:equivalentTo Orphanet:314575 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome -MONDO:0017806 MONDO:equivalentTo Orphanet:314585 15q overgrowth syndrome 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q overgrowth syndrome -MONDO:0017807 MONDO:equivalentTo Orphanet:314613 growing teratoma syndrome Growing teratoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growing teratoma syndrome -MONDO:0017808 MONDO:equivalentTo Orphanet:314621 duplication of the pituitary gland Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duplication of the pituitary gland -MONDO:0017810 MONDO:equivalentTo Orphanet:314652 variant ABeta2M amyloidosis Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant abeta2m amyloidosis -MONDO:0017811 MONDO:equivalentTo Orphanet:314655 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion -MONDO:0017812 MONDO:equivalentTo Orphanet:314662 segmental progressive overgrowth syndrome with fibroadipose hyperplasia Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental progressive overgrowth syndrome with fibroadipose hyperplasia -MONDO:0017814 MONDO:equivalentTo Orphanet:314684 primary bone lymphoma Primary bone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone lymphoma -MONDO:0017815 MONDO:equivalentTo Orphanet:314697 acquired porencephaly Acquired porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired porencephaly -MONDO:0017816 MONDO:equivalentTo Orphanet:314701 primary systemic amyloidosis Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary systemic amyloidosis -MONDO:0017817 MONDO:equivalentTo Orphanet:314709 primary localized amyloidosis Primary localized amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary localized amyloidosis -MONDO:0017818 MONDO:equivalentTo Orphanet:314718 lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal arteriopathy syndrome due to fibulin-4 deficiency -MONDO:0017819 MONDO:equivalentTo Orphanet:314721 atypical dentin dysplasia due to SMOC2 deficiency Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dentin dysplasia due to smoc2 deficiency -MONDO:0017822 MONDO:equivalentTo Orphanet:314759 mixed functioning pituitary adenoma Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed functioning pituitary adenoma -MONDO:0017823 MONDO:equivalentTo Orphanet:314769 somatomammotropinoma Somatomammotropinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatomammotropinoma -MONDO:0017824 MONDO:equivalentTo Orphanet:314777 familial isolated pituitary adenoma Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated pituitary adenoma -MONDO:0017825 MONDO:equivalentTo Orphanet:314786 silent pituitary adenoma Silent pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silent pituitary adenoma -MONDO:0017826 MONDO:equivalentTo Orphanet:314790 null pituitary adenoma Null pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label null pituitary adenoma -MONDO:0017827 MONDO:equivalentTo Orphanet:3148 malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant peripheral nerve sheath tumor -MONDO:0017829 MONDO:equivalentTo Orphanet:314889 autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant proximal renal tubular acidosis -MONDO:0017830 MONDO:equivalentTo Orphanet:314911 severe Canavan disease Severe Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe canavan disease -MONDO:0017831 MONDO:equivalentTo Orphanet:314918 mild Canavan disease Mild Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild canavan disease -MONDO:0017833 MONDO:equivalentTo Orphanet:314950 primary hypereosinophilic syndrome Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypereosinophilic syndrome -MONDO:0017834 MONDO:equivalentTo Orphanet:314962 secondary hypereosinophilic syndrome Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypereosinophilic syndrome -MONDO:0017835 MONDO:equivalentTo Orphanet:314970 lymphocytic hypereosinophilic syndrome Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic hypereosinophilic syndrome -MONDO:0017837 MONDO:equivalentTo Orphanet:3151 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis-ichthyosis-factor viii deficiency syndrome -MONDO:0017838 MONDO:equivalentTo Orphanet:3152 sclerosteosis Sclerosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosteosis -MONDO:0017839 MONDO:equivalentTo Orphanet:315306 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form -MONDO:0017840 MONDO:equivalentTo Orphanet:315311 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form -MONDO:0017842 MONDO:equivalentTo Orphanet:3156 Senior-Loken syndrome Senior-Loken syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome -MONDO:0017843 MONDO:equivalentTo Orphanet:3161 congenital pulmonary sequestration Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary sequestration -MONDO:0017845 MONDO:equivalentTo Orphanet:316226 spastic ataxia Spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia -MONDO:0017846 MONDO:equivalentTo Orphanet:316235 autosomal dominant spastic ataxia Autosomal dominant spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant spastic ataxia -MONDO:0017847 MONDO:equivalentTo Orphanet:316240 autosomal recessive spastic ataxia Autosomal recessive spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic ataxia -MONDO:0017849 MONDO:equivalentTo Orphanet:3167 Siegler-Brewer-Carey syndrome Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siegler-brewer-carey syndrome -MONDO:0017850 MONDO:equivalentTo Orphanet:3169 sirenomelia Sirenomelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sirenomelia -MONDO:0017851 MONDO:equivalentTo Orphanet:317 erythrokeratodermia variabilis Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia variabilis -MONDO:0017852 MONDO:equivalentTo Orphanet:3173 infantile spasms-broad thumbs syndrome Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile spasms-broad thumbs syndrome -MONDO:0017853 MONDO:equivalentTo Orphanet:31740 hypersensitivity pneumonitis Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersensitivity pneumonitis -MONDO:0017855 MONDO:equivalentTo Orphanet:317419 T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b- severe combined immunodeficiency -MONDO:0017856 MONDO:equivalentTo Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spasticity-intellectual disability-epilepsy syndrome -MONDO:0017857 MONDO:equivalentTo Orphanet:3176 spina bifida-hypospadias syndrome Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida-hypospadias syndrome -MONDO:0017858 MONDO:equivalentTo Orphanet:318 acute erythroid leukemia Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia -MONDO:0017859 MONDO:equivalentTo Orphanet:31824 colchicine poisoning Colchicine poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colchicine poisoning -MONDO:0017860 MONDO:equivalentTo Orphanet:31825 methanol poisoning Methanol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methanol poisoning -MONDO:0017861 MONDO:equivalentTo Orphanet:31826 ethylene glycol poisoning Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ethylene glycol poisoning -MONDO:0017862 MONDO:equivalentTo Orphanet:31827 paraquat poisoning Paraquat poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraquat poisoning -MONDO:0017863 MONDO:equivalentTo Orphanet:31828 digitalis poisoning Digitalis poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitalis poisoning -MONDO:0017864 MONDO:equivalentTo Orphanet:3188 congenital pulmonary veins atresia or stenosis Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary veins atresia or stenosis -MONDO:0017866 MONDO:equivalentTo Orphanet:3190 subpulmonary stenosis Subpulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subpulmonary stenosis -MONDO:0017867 MONDO:equivalentTo Orphanet:319171 distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 17p13.1 microdeletion syndrome -MONDO:0017868 MONDO:equivalentTo Orphanet:319192 diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diencephalic-mesencephalic junction dysplasia -MONDO:0017869 MONDO:equivalentTo Orphanet:319195 chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondroectodermal dysplasia with night blindness -MONDO:0017870 MONDO:equivalentTo Orphanet:3192 supravalvular pulmonary stenosis Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular pulmonary stenosis -MONDO:0017871 MONDO:equivalentTo Orphanet:319205 bilateral massive adrenal hemorrhage Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral massive adrenal hemorrhage -MONDO:0017872 MONDO:equivalentTo Orphanet:319213 Lujo hemorrhagic fever Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lujo hemorrhagic fever -MONDO:0017874 MONDO:equivalentTo Orphanet:319223 Argentine hemorrhagic fever Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argentine hemorrhagic fever -MONDO:0017875 MONDO:equivalentTo Orphanet:319229 Bolivian hemorrhagic fever Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bolivian hemorrhagic fever -MONDO:0017876 MONDO:equivalentTo Orphanet:319234 Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venezuelan hemorrhagic fever -MONDO:0017877 MONDO:equivalentTo Orphanet:319239 Brazilian hemorrhagic fever Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brazilian hemorrhagic fever -MONDO:0017878 MONDO:equivalentTo Orphanet:319244 Chapare hemorrhagic fever Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chapare hemorrhagic fever -MONDO:0017879 MONDO:equivalentTo Orphanet:319247 hantavirus pulmonary syndrome Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hantavirus pulmonary syndrome -MONDO:0017880 MONDO:equivalentTo Orphanet:319251 Rift valley fever Rift valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever -MONDO:0017881 MONDO:equivalentTo Orphanet:319254 Kyasanur forest disease Kyasanur forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease -MONDO:0017882 MONDO:equivalentTo Orphanet:319266 Omsk hemorrhagic fever Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omsk hemorrhagic fever -MONDO:0017884 MONDO:equivalentTo Orphanet:319298 papillary renal cell carcinoma Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary renal cell carcinoma -MONDO:0017885 MONDO:equivalentTo Orphanet:319303 chromophobe renal cell carcinoma Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromophobe renal cell carcinoma -MONDO:0017886 MONDO:equivalentTo Orphanet:319308 MIT family translocation renal cell carcinoma MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mit family translocation renal cell carcinoma -MONDO:0017890 MONDO:equivalentTo Orphanet:319325 tubulocystic renal cell carcinoma Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulocystic renal cell carcinoma -MONDO:0017892 MONDO:equivalentTo Orphanet:319332 autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive myogenic arthrogryposis multiplex congenita -MONDO:0017893 MONDO:equivalentTo Orphanet:319465 inherited acute myeloid leukemia Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited acute myeloid leukemia -MONDO:0017894 MONDO:equivalentTo Orphanet:319480 acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with cebpa somatic mutations -MONDO:0017895 MONDO:equivalentTo Orphanet:319487 familial papillary or follicular thyroid carcinoma Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial papillary or follicular thyroid carcinoma -MONDO:0017896 MONDO:equivalentTo Orphanet:319494 familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial nonmedullary thyroid carcinoma -MONDO:0017901 MONDO:equivalentTo Orphanet:319569 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency -MONDO:0017902 MONDO:equivalentTo Orphanet:319574 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency -MONDO:0017903 MONDO:equivalentTo Orphanet:319589 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency -MONDO:0017904 MONDO:equivalentTo Orphanet:3196 steroid dehydrogenase deficiency-dental anomalies syndrome Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steroid dehydrogenase deficiency-dental anomalies syndrome -MONDO:0017905 MONDO:equivalentTo Orphanet:319605 X-linked Mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases -MONDO:0017906 MONDO:equivalentTo Orphanet:319635 amyloidosis cutis dyschromia Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis cutis dyschromia -MONDO:0017907 MONDO:equivalentTo Orphanet:319667 primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary lymphoma of the conjunctiva -MONDO:0017910 MONDO:equivalentTo Orphanet:3202 dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dehydrated hereditary stomatocytosis -MONDO:0017913 MONDO:equivalentTo Orphanet:320335 pure or complex hereditary spastic paraplegia Pure or complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure or complex hereditary spastic paraplegia -MONDO:0017918 MONDO:equivalentTo Orphanet:3207 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome -MONDO:0017919 MONDO:equivalentTo Orphanet:322 exstrophy-epispadias complex Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exstrophy-epispadias complex -MONDO:0017920 MONDO:equivalentTo Orphanet:3224 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome -MONDO:0017921 MONDO:equivalentTo Orphanet:3225 hearing loss-familial salivary gland insensitivity to aldosterone syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hearing loss-familial salivary gland insensitivity to aldosterone syndrome -MONDO:0017923 MONDO:equivalentTo Orphanet:3237 multiple synostoses syndrome Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome -MONDO:0017924 MONDO:equivalentTo Orphanet:3240 central nervous system calcification-deafness-tubular acidosis-anemia syndrome Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system calcification-deafness-tubular acidosis-anemia syndrome -MONDO:0017925 MONDO:equivalentTo Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell immunodeficiency with epidermodysplasia verruciformis -MONDO:0017926 MONDO:equivalentTo Orphanet:324299 multiple paragangliomas associated with polycythemia Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple paragangliomas associated with polycythemia -MONDO:0017928 MONDO:equivalentTo Orphanet:324313 9p13 microdeletion syndrome 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9p13 microdeletion syndrome -MONDO:0017929 MONDO:equivalentTo Orphanet:324353 congenital achiasma Congenital achiasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital achiasma -MONDO:0017930 MONDO:equivalentTo Orphanet:324364 mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed sclerosing bone dystrophy with extra-skeletal manifestations -MONDO:0017931 MONDO:equivalentTo Orphanet:324381 hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary inclusion body myopathy type 4 -MONDO:0017932 MONDO:equivalentTo Orphanet:324416 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular hypertrophy-hepatomegaly-polyhydramnios syndrome -MONDO:0017934 MONDO:equivalentTo Orphanet:324540 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome -MONDO:0017935 MONDO:equivalentTo Orphanet:324575 hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to hnf1a deficiency -MONDO:0017936 MONDO:equivalentTo Orphanet:324581 benign Samaritan congenital myopathy Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign samaritan congenital myopathy -MONDO:0017937 MONDO:equivalentTo Orphanet:324585 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain -MONDO:0017940 MONDO:equivalentTo Orphanet:324611 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation -MONDO:0017941 MONDO:equivalentTo Orphanet:324625 chikungunya Chikungunya semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chikungunya -MONDO:0017942 MONDO:equivalentTo Orphanet:324632 Hendra virus infection Hendra virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hendra virus infection -MONDO:0017943 MONDO:equivalentTo Orphanet:324636 autoerythrocyte sensitization syndrome Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoerythrocyte sensitization syndrome -MONDO:0017944 MONDO:equivalentTo Orphanet:324648 invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label invasive non-typhoidal salmonellosis -MONDO:0017945 MONDO:equivalentTo Orphanet:324703 ABetaL34V amyloidosis ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetal34v amyloidosis -MONDO:0017946 MONDO:equivalentTo Orphanet:324708 ABeta amyloidosis, Iowa type ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, iowa type -MONDO:0017947 MONDO:equivalentTo Orphanet:324713 ABeta amyloidosis, Italian type ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, italian type -MONDO:0017948 MONDO:equivalentTo Orphanet:324718 ABetaA21G amyloidosis ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetaa21g amyloidosis -MONDO:0017949 MONDO:equivalentTo Orphanet:324723 ABeta amyloidosis, Arctic type ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, arctic type -MONDO:0017950 MONDO:equivalentTo Orphanet:324761 microcephalic primordial dwarfism Microcephalic primordial dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism -MONDO:0017951 MONDO:equivalentTo Orphanet:324764 trichorhinophalangeal syndrome Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichorhinophalangeal syndrome -MONDO:0017953 MONDO:equivalentTo Orphanet:324924 hereditary periodic fever syndrome Hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary periodic fever syndrome -MONDO:0017958 MONDO:equivalentTo Orphanet:324972 magic syndrome MAGIC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magic syndrome -MONDO:0017967 MONDO:equivalentTo Orphanet:325124 testicular agenesis Testicular agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label testicular agenesis -MONDO:0017972 MONDO:equivalentTo Orphanet:325524 classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital lipoid adrenal hyperplasia due to star deficency -MONDO:0017973 MONDO:equivalentTo Orphanet:325529 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-classic congenital lipoid adrenal hyperplasia due to star deficency -MONDO:0017979 MONDO:equivalentTo Orphanet:3261 autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0017981 MONDO:equivalentTo Orphanet:3263 syngnathia-cleft palate syndrome Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syngnathia-cleft palate syndrome -MONDO:0017983 MONDO:equivalentTo Orphanet:3266 humero-radio-ulnar synostosis Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-radio-ulnar synostosis -MONDO:0017985 MONDO:equivalentTo Orphanet:3269 congenital radioulnar synostosis Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital radioulnar synostosis -MONDO:0017986 MONDO:equivalentTo Orphanet:3276 disorder of plasmalogens biosynthesis Disorder of plasmalogens biosynthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of plasmalogens biosynthesis -MONDO:0017987 MONDO:equivalentTo Orphanet:3280 syringomyelia Syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syringomyelia -MONDO:0017988 MONDO:equivalentTo Orphanet:3282 multifocal atrial tachycardia Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal atrial tachycardia -MONDO:0017989 MONDO:equivalentTo Orphanet:3283 His bundle tachycardia His bundle tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label his bundle tachycardia -MONDO:0017990 MONDO:equivalentTo Orphanet:3286 catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catecholaminergic polymorphic ventricular tachycardia -MONDO:0017991 MONDO:equivalentTo Orphanet:3287 Takayasu arteritis Takayasu arteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label takayasu arteritis -MONDO:0017992 MONDO:equivalentTo Orphanet:329173 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis -MONDO:0017993 MONDO:equivalentTo Orphanet:329217 cerebral sinovenous thrombosis Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral sinovenous thrombosis -MONDO:0017994 MONDO:equivalentTo Orphanet:329249 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency -MONDO:0017997 MONDO:equivalentTo Orphanet:3293 telecanthus-hypertelorism-strabismus-pes cavus syndrome Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telecanthus-hypertelorism-strabismus-pes cavus syndrome -MONDO:0017998 MONDO:equivalentTo Orphanet:329303 PLA2G6-associated neurodegeneration PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pla2g6-associated neurodegeneration -MONDO:0017999 MONDO:equivalentTo Orphanet:329308 fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatty acid hydroxylase-associated neurodegeneration -MONDO:0018002 MONDO:equivalentTo Orphanet:329336 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -MONDO:0018004 MONDO:equivalentTo Orphanet:329469 acute megakaryoblastic leukemia without down syndrome Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia without down syndrome -MONDO:0018005 MONDO:equivalentTo Orphanet:329475 spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-paget disease of bone syndrome -MONDO:0018006 MONDO:equivalentTo Orphanet:329478 adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset distal myopathy due to vcp mutation -MONDO:0018007 MONDO:equivalentTo Orphanet:329813 mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic genome-wide paternal uniparental disomy -MONDO:0018008 MONDO:equivalentTo Orphanet:329874 idiopathic giant cell myocarditis Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic giant cell myocarditis -MONDO:0018009 MONDO:equivalentTo Orphanet:329883 non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hypoproteinemic hypertrophic gastropathy -MONDO:0018010 MONDO:equivalentTo Orphanet:329888 juvenile idiopathic inflammatory myopathy Juvenile idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic inflammatory myopathy -MONDO:0018011 MONDO:equivalentTo Orphanet:329894 juvenile overlap myositis Juvenile overlap myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile overlap myositis -MONDO:0018014 MONDO:equivalentTo Orphanet:329942 transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal multiple acyl-coa dehydrogenase deficiency -MONDO:0018015 MONDO:equivalentTo Orphanet:329967 intermittent hydrarthrosis Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis -MONDO:0018016 MONDO:equivalentTo Orphanet:329977 classic neuroendocrine tumor of appendix Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic neuroendocrine tumor of appendix -MONDO:0018017 MONDO:equivalentTo Orphanet:329984 goblet cell carcinoma Goblet cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goblet cell carcinoma -MONDO:0018018 MONDO:equivalentTo Orphanet:330001 wild type ATTR amyloidosis Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wild type attr amyloidosis -MONDO:0018019 MONDO:equivalentTo Orphanet:330015 lead poisoning Lead poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lead poisoning -MONDO:0018020 MONDO:equivalentTo Orphanet:330021 mercury poisoning Mercury poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mercury poisoning -MONDO:0018021 MONDO:equivalentTo Orphanet:330029 hypotrichosis-deafness syndrome Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-deafness syndrome -MONDO:0018022 MONDO:equivalentTo Orphanet:330032 hemoglobin Lepore-beta-thalassemia syndrome Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin lepore-beta-thalassemia syndrome -MONDO:0018023 MONDO:equivalentTo Orphanet:330041 hemoglobin M disease Hemoglobin M disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin m disease -MONDO:0018024 MONDO:equivalentTo Orphanet:330058 hydroa vacciniforme Hydroa vacciniforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydroa vacciniforme -MONDO:0018025 MONDO:equivalentTo Orphanet:330064 chronic actinic dermatitis Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic actinic dermatitis -MONDO:0018028 MONDO:equivalentTo Orphanet:3309 tetrasomy 5p Tetrasomy 5p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 5p -MONDO:0018029 MONDO:equivalentTo Orphanet:331 congenital factor XIII deficiency Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xiii deficiency -MONDO:0018030 MONDO:equivalentTo Orphanet:3310 tetrasomy 9p Tetrasomy 9p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 9p -MONDO:0018034 MONDO:equivalentTo Orphanet:3312 thalidomide embryopathy Thalidomide embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thalidomide embryopathy -MONDO:0018037 MONDO:equivalentTo Orphanet:331223 hyper-IgE syndrome Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-ige syndrome -MONDO:0018039 MONDO:equivalentTo Orphanet:331235 selective IgM deficiency Selective IgM deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective igm deficiency -MONDO:0018043 MONDO:equivalentTo Orphanet:3316 Thomas syndrome Thomas syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thomas syndrome -MONDO:0018044 MONDO:equivalentTo Orphanet:33208 idiopathic hypersomnia Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypersomnia -MONDO:0018045 MONDO:equivalentTo Orphanet:3322 Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hoyeraal-hreidarsson syndrome -MONDO:0018047 MONDO:equivalentTo Orphanet:3324 familial thrombomodulin anomalies Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thrombomodulin anomalies -MONDO:0018048 MONDO:equivalentTo Orphanet:3325 heparin-induced thrombocytopenia Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heparin-induced thrombocytopenia -MONDO:0018050 MONDO:equivalentTo Orphanet:3329 tibial aplasia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial aplasia-ectrodactyly syndrome -MONDO:0018051 MONDO:equivalentTo Orphanet:33314 Jessner lymphocytic infiltration of the skin Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jessner lymphocytic infiltration of the skin -MONDO:0018053 MONDO:equivalentTo Orphanet:33364 trichothiodystrophy Trichothiodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy -MONDO:0018054 MONDO:equivalentTo Orphanet:334 familial atrial fibrillation Familial atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atrial fibrillation -MONDO:0018055 MONDO:equivalentTo Orphanet:33402 pediatric hepatocellular carcinoma Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric hepatocellular carcinoma -MONDO:0018056 MONDO:equivalentTo Orphanet:33408 bullous lichen planus Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus -MONDO:0018058 MONDO:equivalentTo Orphanet:3346 tracheal agenesis Tracheal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal agenesis -MONDO:0018059 MONDO:equivalentTo Orphanet:33475 meningococcal meningitis Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis -MONDO:0018060 MONDO:equivalentTo Orphanet:335 congenital fibrinogen deficiency Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fibrinogen deficiency -MONDO:0018061 MONDO:equivalentTo Orphanet:3353 trichodermodysplasia-dental alterations syndrome Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodermodysplasia-dental alterations syndrome -MONDO:0018063 MONDO:equivalentTo Orphanet:33577 nodular non-suppurative panniculitis Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular non-suppurative panniculitis -MONDO:0018064 MONDO:equivalentTo Orphanet:3365 trigonocephaly-broad thumbs syndrome Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-broad thumbs syndrome -MONDO:0018066 MONDO:equivalentTo Orphanet:3375 trisomy X Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x -MONDO:0018067 MONDO:equivalentTo Orphanet:3376 triploidy Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy -MONDO:0018068 MONDO:equivalentTo Orphanet:3378 trisomy 13 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 13 -MONDO:0018071 MONDO:equivalentTo Orphanet:3380 trisomy 18 Trisomy 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 18 -MONDO:0018075 MONDO:equivalentTo Orphanet:3388 neural tube defect Neural tube defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neural tube defect -MONDO:0018076 MONDO:equivalentTo Orphanet:3389 tuberculosis Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis -MONDO:0018077 MONDO:equivalentTo Orphanet:3392 tularemia Tularemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tularemia -MONDO:0018078 MONDO:equivalentTo Orphanet:3394 soft tissue sarcoma Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label soft tissue sarcoma -MONDO:0018079 MONDO:equivalentTo Orphanet:3398 thymic epithelial neoplasm Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic epithelial neoplasm -MONDO:0018081 MONDO:equivalentTo Orphanet:340 hemorrhagic fever-renal syndrome Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemorrhagic fever-renal syndrome -MONDO:0018082 MONDO:equivalentTo Orphanet:3400 aorto-ventricular tunnel Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-ventricular tunnel -MONDO:0018083 MONDO:equivalentTo Orphanet:3402 transient tyrosinemia of the newborn Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tyrosinemia of the newborn -MONDO:0018084 MONDO:equivalentTo Orphanet:3403 Uhl anomaly Uhl anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uhl anomaly -MONDO:0018085 MONDO:equivalentTo Orphanet:3405 umbilical cord ulceration-intestinal atresia syndrome Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label umbilical cord ulceration-intestinal atresia syndrome -MONDO:0018086 MONDO:equivalentTo Orphanet:3406 ulerythema ophryogenesis Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulerythema ophryogenesis -MONDO:0018087 MONDO:equivalentTo Orphanet:341 viral hemorrhagic fever Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hemorrhagic fever -MONDO:0018088 MONDO:equivalentTo Orphanet:342 familial Mediterranean fever Familial Mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever -MONDO:0018089 MONDO:equivalentTo Orphanet:3426 double outlet right ventricle Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle -MONDO:0018090 MONDO:equivalentTo Orphanet:3427 double outlet left ventricle Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle -MONDO:0018091 MONDO:equivalentTo Orphanet:3433 microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-brachydactyly-kyphoscoliosis syndrome -MONDO:0018092 MONDO:equivalentTo Orphanet:3437 Vogt-Koyanagi-Harada disease Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vogt-koyanagi-harada disease -MONDO:0018093 MONDO:equivalentTo Orphanet:344 arbovirus fever Arbovirus fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arbovirus fever -MONDO:0018094 MONDO:equivalentTo Orphanet:3440 Waardenburg syndrome Waardenburg syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome -MONDO:0018095 MONDO:equivalentTo Orphanet:3448 Weaver-Williams syndrome Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weaver-williams syndrome -MONDO:0018096 MONDO:equivalentTo Orphanet:3449 Weill-Marchesani syndrome Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weill-marchesani syndrome -MONDO:0018102 MONDO:equivalentTo Orphanet:34533 corneal dystrophy Corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal dystrophy -MONDO:0018105 MONDO:equivalentTo Orphanet:3463 Wolfram syndrome Wolfram syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolfram syndrome -MONDO:0018106 MONDO:equivalentTo Orphanet:3467 hereditary xanthinuria Hereditary xanthinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary xanthinuria -MONDO:0018109 MONDO:equivalentTo Orphanet:35063 fulminant viral hepatitis Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fulminant viral hepatitis -MONDO:0018115 MONDO:equivalentTo Orphanet:35125 epidermal nevus syndrome Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermal nevus syndrome -MONDO:0018116 MONDO:equivalentTo Orphanet:352 galactosemia Galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia -MONDO:0018117 MONDO:equivalentTo Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of phospholipids, sphingolipids and fatty acids biosynthesis -MONDO:0018121 MONDO:equivalentTo Orphanet:352456 mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna maintenance syndrome -MONDO:0018123 MONDO:equivalentTo Orphanet:352530 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-obesity-brain malformations-facial dysmorphism syndrome -MONDO:0018124 MONDO:equivalentTo Orphanet:352540 Oncogenic osteomalacia Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oncogenic osteomalacia -MONDO:0018125 MONDO:equivalentTo Orphanet:352587 focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal epilepsy-intellectual disability-cerebro-cerebellar malformation -MONDO:0018126 MONDO:equivalentTo Orphanet:352596 progressive myoclonic epilepsy with dystonia Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy with dystonia -MONDO:0018127 MONDO:equivalentTo Orphanet:352629 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16q24.1 microdeletion syndrome -MONDO:0018128 MONDO:equivalentTo Orphanet:352636 phalangeal microgeodic syndrome Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phalangeal microgeodic syndrome -MONDO:0018129 MONDO:equivalentTo Orphanet:352641 autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebellar ataxia with late-onset spasticity -MONDO:0018130 MONDO:equivalentTo Orphanet:352649 brain dopamine-serotonin vesicular transport disease Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain dopamine-serotonin vesicular transport disease -MONDO:0018133 MONDO:equivalentTo Orphanet:352723 attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attenuated chédiak-higashi syndrome -MONDO:0018134 MONDO:equivalentTo Orphanet:352728 disorder of melanin metabolism Disorder of melanin metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of melanin metabolism -MONDO:0018135 MONDO:equivalentTo Orphanet:352731 oculocutaneous albinism type 1 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1 -MONDO:0018136 MONDO:equivalentTo Orphanet:352734 minimal pigment oculocutaneous albinism type 1 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label minimal pigment oculocutaneous albinism type 1 -MONDO:0018137 MONDO:equivalentTo Orphanet:352737 temperature-sensitive oculocutaneous albinism type 1 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temperature-sensitive oculocutaneous albinism type 1 -MONDO:0018142 MONDO:equivalentTo Orphanet:353314 pyruvate carboxylase deficiency, severe neonatal type Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate carboxylase deficiency, severe neonatal type -MONDO:0018143 MONDO:equivalentTo Orphanet:353320 pyruvate carboxylase deficiency, benign type Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate carboxylase deficiency, benign type -MONDO:0018145 MONDO:equivalentTo Orphanet:353334 congenital retinal arteriovenous communication Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital retinal arteriovenous communication -MONDO:0018146 MONDO:equivalentTo Orphanet:353344 idiopathic macular telangiectasia type 1 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic macular telangiectasia type 1 -MONDO:0018147 MONDO:equivalentTo Orphanet:353351 idiopathic macular telangiectasia type 3 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic macular telangiectasia type 3 -MONDO:0018149 MONDO:equivalentTo Orphanet:354 GM1 gangliosidosis GM1 gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis -MONDO:0018150 MONDO:equivalentTo Orphanet:355 Gaucher disease Gaucher disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gaucher disease -MONDO:0018151 MONDO:equivalentTo Orphanet:35656 coenzyme Q10 deficiency Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coenzyme q10 deficiency -MONDO:0018152 MONDO:equivalentTo Orphanet:35686 serpiginous choroiditis Serpiginous choroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serpiginous choroiditis -MONDO:0018153 MONDO:equivalentTo Orphanet:35687 Erdheim-Chester disease Erdheim-Chester disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erdheim-chester disease -MONDO:0018156 MONDO:equivalentTo Orphanet:356947 3q26q27 microdeletion syndrome 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q26q27 microdeletion syndrome -MONDO:0018158 MONDO:equivalentTo Orphanet:35698 mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome -MONDO:0018160 MONDO:equivalentTo Orphanet:357027 hereditary retinoblastoma Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary retinoblastoma -MONDO:0018161 MONDO:equivalentTo Orphanet:357034 non-hereditary retinoblastoma Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hereditary retinoblastoma -MONDO:0018162 MONDO:equivalentTo Orphanet:35705 neurometabolic disorder due to serine deficiency Neurometabolic disorder due to serine deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurometabolic disorder due to serine deficiency -MONDO:0018163 MONDO:equivalentTo Orphanet:357058 autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2a -MONDO:0018164 MONDO:equivalentTo Orphanet:357107 arterial thoracic outlet syndrome Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial thoracic outlet syndrome -MONDO:0018165 MONDO:equivalentTo Orphanet:357131 venous thoracic outlet syndrome Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous thoracic outlet syndrome -MONDO:0018166 MONDO:equivalentTo Orphanet:357154 oral submucous fibrosis Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis -MONDO:0018167 MONDO:equivalentTo Orphanet:357220 primary essential cutis verticis gyrata Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary essential cutis verticis gyrata -MONDO:0018168 MONDO:equivalentTo Orphanet:357225 primary non-essential cutis verticis gyrata Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary non-essential cutis verticis gyrata -MONDO:0018170 MONDO:equivalentTo Orphanet:357502 idiopathic nephrotic syndrome Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic nephrotic syndrome -MONDO:0018171 MONDO:equivalentTo Orphanet:35807 malignant germ cell tumor of ovary Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant germ cell tumor of ovary -MONDO:0018172 MONDO:equivalentTo Orphanet:35808 malignant sex cord stromal tumor of ovary Malignant sex cord stromal tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant sex cord stromal tumor of ovary -MONDO:0018175 MONDO:equivalentTo Orphanet:35909 combined deficiency of factor V and factor VIII Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined deficiency of factor v and factor viii -MONDO:0018177 MONDO:equivalentTo Orphanet:360 glioblastoma Glioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glioblastoma -MONDO:0018178 MONDO:equivalentTo Orphanet:36204 intestinal lymphangiectasia Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal lymphangiectasia -MONDO:0018180 MONDO:equivalentTo Orphanet:36235 staphylococcal scarlet fever Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scarlet fever -MONDO:0018181 MONDO:equivalentTo Orphanet:36236 staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome -MONDO:0018182 MONDO:equivalentTo Orphanet:36237 bullous impetigo Bullous impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous impetigo -MONDO:0018183 MONDO:equivalentTo Orphanet:36238 staphylococcal necrotizing pneumonia Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal necrotizing pneumonia -MONDO:0018184 MONDO:equivalentTo Orphanet:36273 gastric linitis plastica Gastric linitis plastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric linitis plastica -MONDO:0018190 MONDO:equivalentTo Orphanet:363447 autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant childhood-onset proximal spinal muscular atrophy -MONDO:0018192 MONDO:equivalentTo Orphanet:363478 paratesticular adenocarcinoma Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paratesticular adenocarcinoma -MONDO:0018193 MONDO:equivalentTo Orphanet:363483 testicular teratoma Testicular teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label testicular teratoma -MONDO:0018197 MONDO:equivalentTo Orphanet:363534 mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, hepatocerebrorenal form -MONDO:0018198 MONDO:equivalentTo Orphanet:363549 acute encephalopathy with biphasic seizures and late reduced diffusion Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute encephalopathy with biphasic seizures and late reduced diffusion -MONDO:0018199 MONDO:equivalentTo Orphanet:363558 new-onset refractory status epilepticus New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label new-onset refractory status epilepticus -MONDO:0018201 MONDO:equivalentTo Orphanet:363579 extragonadal germ cell tumor Extragonadal germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal germ cell tumor -MONDO:0018202 MONDO:equivalentTo Orphanet:363582 gonadal germ cell tumor Gonadal germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadal germ cell tumor -MONDO:0018203 MONDO:equivalentTo Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lmna-related cardiocutaneous progeria syndrome -MONDO:0018204 MONDO:equivalentTo Orphanet:363659 20q11.2 microduplication syndrome 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q11.2 microduplication syndrome -MONDO:0018206 MONDO:equivalentTo Orphanet:363677 childhood-onset autosomal recessive myopathy with external ophthalmoplegia Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset autosomal recessive myopathy with external ophthalmoplegia -MONDO:0018207 MONDO:equivalentTo Orphanet:363680 2p13.2 microdeletion syndrome 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p13.2 microdeletion syndrome -MONDO:0018208 MONDO:equivalentTo Orphanet:363700 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis type 1 due to nf1 mutation or intragenic deletion -MONDO:0018209 MONDO:equivalentTo Orphanet:363717 Alexander disease type I Alexander disease type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease type i -MONDO:0018210 MONDO:equivalentTo Orphanet:363722 Alexander disease type II Alexander disease type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease type ii -MONDO:0018211 MONDO:equivalentTo Orphanet:363746 Balint syndrome Balint syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balint syndrome -MONDO:0018212 MONDO:equivalentTo Orphanet:36382 familial cervical artery dissection Familial cervical artery dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cervical artery dissection -MONDO:0018213 MONDO:equivalentTo Orphanet:36386 hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 1 -MONDO:0018215 MONDO:equivalentTo Orphanet:36388 paraneoplastic neurologic syndrome Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic neurologic syndrome -MONDO:0018217 MONDO:equivalentTo Orphanet:363965 Koolen-de Vries syndrome due to a point mutation Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label koolen-de vries syndrome due to a point mutation -MONDO:0018218 MONDO:equivalentTo Orphanet:363969 autosomal recessive cerebral atrophy Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebral atrophy -MONDO:0018221 MONDO:equivalentTo Orphanet:364013 immune hydrops fetalis Immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune hydrops fetalis -MONDO:0018223 MONDO:equivalentTo Orphanet:364033 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood -MONDO:0018224 MONDO:equivalentTo Orphanet:364039 hydroa vacciniforme-like lymphoma Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydroa vacciniforme-like lymphoma -MONDO:0018225 MONDO:equivalentTo Orphanet:364043 ALK-positive large B-cell lymphoma ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-positive large b-cell lymphoma -MONDO:0018226 MONDO:equivalentTo Orphanet:364063 infantile epileptic-dyskinetic encephalopathy Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile epileptic-dyskinetic encephalopathy -MONDO:0018227 MONDO:equivalentTo Orphanet:36412 hypocomplementemic urticarial vasculitis Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocomplementemic urticarial vasculitis -MONDO:0018228 MONDO:equivalentTo Orphanet:364198 bipartite talus Bipartite talus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bipartite talus -MONDO:0018229 MONDO:equivalentTo Orphanet:36426 Stevens-Johnson syndrome Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stevens-johnson syndrome -MONDO:0018233 MONDO:equivalentTo Orphanet:364541 otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome spectrum disorder -MONDO:0018234 MONDO:equivalentTo Orphanet:364559 dysostosis Dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis -MONDO:0018237 MONDO:equivalentTo Orphanet:364574 acrofacial dysostosis Acrofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis -MONDO:0018239 MONDO:equivalentTo Orphanet:364817 aggrecan-related bone disorder Aggrecan-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggrecan-related bone disorder -MONDO:0018240 MONDO:equivalentTo Orphanet:364820 TRPV4-related bone disorder TRPV4-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trpv4-related bone disorder -MONDO:0018242 MONDO:equivalentTo Orphanet:36913 autoimmune hypoparathyroidism Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hypoparathyroidism -MONDO:0018243 MONDO:equivalentTo Orphanet:369847 intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hyperkinetic movement-truncal ataxia syndrome -MONDO:0018244 MONDO:equivalentTo Orphanet:369873 obesity due to SIM1 deficiency Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to sim1 deficiency -MONDO:0018245 MONDO:equivalentTo Orphanet:369881 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p21 microdeletion syndrome without cystinuria -MONDO:0018247 MONDO:equivalentTo Orphanet:369942 CADDS CADDS semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadds -MONDO:0018248 MONDO:equivalentTo Orphanet:369950 intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-seizures-macrocephaly-obesity syndrome -MONDO:0018250 MONDO:equivalentTo Orphanet:369999 diffuse palmoplantar keratoderma with painful fissures Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse palmoplantar keratoderma with painful fissures -MONDO:0018252 MONDO:equivalentTo Orphanet:370002 focal palmoplantar keratoderma with joint keratoses Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar keratoderma with joint keratoses -MONDO:0018253 MONDO:equivalentTo Orphanet:370010 intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-facial dysmorphism-hand anomalies syndrome -MONDO:0018256 MONDO:equivalentTo Orphanet:370026 acute myeloid leukemia with t(8;16)(p11;p13) translocation Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(8;16)(p11;p13) translocation -MONDO:0018257 MONDO:equivalentTo Orphanet:370034 familial syringomyelia Familial syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial syringomyelia -MONDO:0018258 MONDO:equivalentTo Orphanet:370039 Angora hair nevus Angora hair nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angora hair nevus -MONDO:0018259 MONDO:equivalentTo Orphanet:370046 didymosis aplasticosebacea Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label didymosis aplasticosebacea -MONDO:0018260 MONDO:equivalentTo Orphanet:370052 scalp syndrome SCALP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp syndrome -MONDO:0018261 MONDO:equivalentTo Orphanet:370059 Nevada syndrome NEVADA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevada syndrome -MONDO:0018262 MONDO:equivalentTo Orphanet:370068 fetal anticonvulsant syndrome Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal anticonvulsant syndrome -MONDO:0018263 MONDO:equivalentTo Orphanet:370076 fetal carbamazepine syndrome Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal carbamazepine syndrome -MONDO:0018264 MONDO:equivalentTo Orphanet:370097 oculocutaneous albinism type 6 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 6 -MONDO:0018268 MONDO:equivalentTo Orphanet:370127 Medich giant platelet syndrome Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medich giant platelet syndrome -MONDO:0018269 MONDO:equivalentTo Orphanet:370131 white platelet syndrome White platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white platelet syndrome -MONDO:0018270 MONDO:equivalentTo Orphanet:370334 extraskeletal Ewing sarcoma Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraskeletal ewing sarcoma -MONDO:0018271 MONDO:equivalentTo Orphanet:370348 peripheral primitive neuroectodermal tumor Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral primitive neuroectodermal tumor -MONDO:0018274 MONDO:equivalentTo Orphanet:370933 GM3 synthase deficiency GM3 synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm3 synthase deficiency -MONDO:0018278 MONDO:equivalentTo Orphanet:370968 congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with intellectual disability -MONDO:0018280 MONDO:equivalentTo Orphanet:370997 muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscle-eye-brain disease with bilateral multicystic leucodystrophy -MONDO:0018281 MONDO:equivalentTo Orphanet:371007 congenital muscular dystrophy with hyperlaxity Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with hyperlaxity -MONDO:0018282 MONDO:equivalentTo Orphanet:371024 qualitative or quantitative defects of alpha-dystroglycan Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-dystroglycan -MONDO:0018298 MONDO:equivalentTo Orphanet:371428 multicentric osteolysis-nodulosis-arthropathy spectrum Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric osteolysis-nodulosis-arthropathy spectrum -MONDO:0018301 MONDO:equivalentTo Orphanet:37202 interstitial cystitis Interstitial cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial cystitis -MONDO:0018302 MONDO:equivalentTo Orphanet:37559 acquired kinky hair syndrome Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired kinky hair syndrome -MONDO:0018304 MONDO:equivalentTo Orphanet:37748 Schnitzler syndrome Schnitzler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schnitzler syndrome -MONDO:0018305 MONDO:equivalentTo Orphanet:379 chronic granulomatous disease Chronic granulomatous disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic granulomatous disease -MONDO:0018306 MONDO:equivalentTo Orphanet:381 Griscelli syndrome Griscelli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome -MONDO:0018307 MONDO:equivalentTo Orphanet:385 neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation -MONDO:0018309 MONDO:equivalentTo Orphanet:388 Hirschsprung disease Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease -MONDO:0018310 MONDO:equivalentTo Orphanet:389 Langerhans cell histiocytosis Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langerhans cell histiocytosis -MONDO:0018311 MONDO:equivalentTo Orphanet:39 acromelanosis Acromelanosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromelanosis -MONDO:0018312 MONDO:equivalentTo Orphanet:390 histoplasmosis Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis -MONDO:0018314 MONDO:equivalentTo Orphanet:391316 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset mesial temporal lobe epilepsy with severe cognitive regression -MONDO:0018315 MONDO:equivalentTo Orphanet:391330 X-linked osteoporosis with fractures X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked osteoporosis with fractures -MONDO:0018316 MONDO:equivalentTo Orphanet:391343 fatal post-viral neurodegenerative disorder Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal post-viral neurodegenerative disorder -MONDO:0018317 MONDO:equivalentTo Orphanet:391366 growth retardation-mild developmental delay-chronic hepatitis syndrome Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth retardation-mild developmental delay-chronic hepatitis syndrome -MONDO:0018319 MONDO:equivalentTo Orphanet:391384 familial episodic pain syndrome Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome -MONDO:0018320 MONDO:equivalentTo Orphanet:391408 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -MONDO:0018321 MONDO:equivalentTo Orphanet:391411 atypical juvenile parkinsonism Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical juvenile parkinsonism -MONDO:0018322 MONDO:equivalentTo Orphanet:391428 HSD10 disease, infantile type HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, infantile type -MONDO:0018323 MONDO:equivalentTo Orphanet:391457 HSD10 disease, neonatal type HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, neonatal type -MONDO:0018324 MONDO:equivalentTo Orphanet:391490 adult-onset myasthenia gravis Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset myasthenia gravis -MONDO:0018325 MONDO:equivalentTo Orphanet:391497 juvenile myasthenia gravis Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myasthenia gravis -MONDO:0018326 MONDO:equivalentTo Orphanet:391504 transient neonatal myasthenia gravis Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis -MONDO:0018327 MONDO:equivalentTo Orphanet:391651 glomus tumor Glomus tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glomus tumor -MONDO:0018328 MONDO:equivalentTo Orphanet:391665 homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homozygous familial hypercholesterolemia -MONDO:0018330 MONDO:equivalentTo Orphanet:391723 mucinous adenocarcinoma of the appendix Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucinous adenocarcinoma of the appendix -MONDO:0018332 MONDO:equivalentTo Orphanet:394529 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency, severe neonatal type -MONDO:0018333 MONDO:equivalentTo Orphanet:394532 multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency, mild type -MONDO:0018334 MONDO:equivalentTo Orphanet:396 chronic hiccup Chronic hiccup semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic hiccup -MONDO:0018338 MONDO:equivalentTo Orphanet:397596 activated PI3K-delta syndrome Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label activated pi3k-delta syndrome -MONDO:0018339 MONDO:equivalentTo Orphanet:397606 PrP systemic amyloidosis PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prp systemic amyloidosis -MONDO:0018341 MONDO:equivalentTo Orphanet:397695 3q27.3 microdeletion syndrome 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q27.3 microdeletion syndrome -MONDO:0018342 MONDO:equivalentTo Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with jeune asphyxiating thoracic dystrophy -MONDO:0018343 MONDO:equivalentTo Orphanet:397750 periodic paralysis with later-onset distal motor neuropathy Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis with later-onset distal motor neuropathy -MONDO:0018346 MONDO:equivalentTo Orphanet:397922 ferro-cerebro-cutaneous syndrome Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ferro-cerebro-cutaneous syndrome -MONDO:0018353 MONDO:equivalentTo Orphanet:398063 refractory celiac disease Refractory celiac disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractory celiac disease -MONDO:0018354 MONDO:equivalentTo Orphanet:398073 Prader-Willi-like syndrome Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi-like syndrome -MONDO:0018355 MONDO:equivalentTo Orphanet:398079 SIM1-related Prader-Willi-like syndrome SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sim1-related prader-willi-like syndrome -MONDO:0018356 MONDO:equivalentTo Orphanet:398091 secondary neonatal autoimmune disease Secondary neonatal autoimmune disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary neonatal autoimmune disease -MONDO:0018357 MONDO:equivalentTo Orphanet:398097 neonatal antiphospholipid syndrome Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal antiphospholipid syndrome -MONDO:0018358 MONDO:equivalentTo Orphanet:398109 neonatal autoimmune hemolytic anemia Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal autoimmune hemolytic anemia -MONDO:0018359 MONDO:equivalentTo Orphanet:398117 neonatal dermatomyositis Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal dermatomyositis -MONDO:0018360 MONDO:equivalentTo Orphanet:398124 neonatal lupus erythematosus Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal lupus erythematosus -MONDO:0018361 MONDO:equivalentTo Orphanet:398127 neonatal scleroderma Neonatal scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal scleroderma -MONDO:0018362 MONDO:equivalentTo Orphanet:398147 persistent idiopathic facial pain Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent idiopathic facial pain -MONDO:0018363 MONDO:equivalentTo Orphanet:398166 focal facial dermal dysplasia Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia -MONDO:0018364 MONDO:equivalentTo Orphanet:398934 malignant epithelial tumor of ovary Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant epithelial tumor of ovary -MONDO:0018365 MONDO:equivalentTo Orphanet:398940 malignant non-epithelial tumor of ovary Malignant non-epithelial tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant non-epithelial tumor of ovary -MONDO:0018370 MONDO:equivalentTo Orphanet:399081 KLHL9-related early-onset distal myopathy KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klhl9-related early-onset distal myopathy -MONDO:0018373 MONDO:equivalentTo Orphanet:399164 avascular necrosis Avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis -MONDO:0018374 MONDO:equivalentTo Orphanet:399169 secondary avascular necrosis Secondary avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary avascular necrosis -MONDO:0018375 MONDO:equivalentTo Orphanet:399175 traumatic avascular necrosis Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label traumatic avascular necrosis -MONDO:0018376 MONDO:equivalentTo Orphanet:399180 secondary non-traumatic avascular necrosis Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary non-traumatic avascular necrosis -MONDO:0018378 MONDO:equivalentTo Orphanet:399293 osteonecrosis of the jaw Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis of the jaw -MONDO:0018379 MONDO:equivalentTo Orphanet:399302 primary avascular necrosis Primary avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary avascular necrosis -MONDO:0018380 MONDO:equivalentTo Orphanet:399307 idiopathic avascular necrosis Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic avascular necrosis -MONDO:0018381 MONDO:equivalentTo Orphanet:399319 osteochondrosis Osteochondrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrosis -MONDO:0018382 MONDO:equivalentTo Orphanet:399329 epiphysiolysis of the hip Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphysiolysis of the hip -MONDO:0018383 MONDO:equivalentTo Orphanet:399380 osteonecrosis of genetic origin Osteonecrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis of genetic origin -MONDO:0018384 MONDO:equivalentTo Orphanet:399388 avascular necrosis of genetic origin Avascular necrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis of genetic origin -MONDO:0018385 MONDO:equivalentTo Orphanet:399391 osteochondrosis of genetic origin Osteochondrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrosis of genetic origin -MONDO:0018394 MONDO:equivalentTo Orphanet:399808 male infertility with teratozoospermia due to single gene mutation Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility with teratozoospermia due to single gene mutation -MONDO:0018408 MONDO:equivalentTo Orphanet:400 cystic echinococcosis Cystic echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic echinococcosis -MONDO:0018416 MONDO:equivalentTo Orphanet:401795 autosomal recessive spastic paraplegia type 59 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 59 -MONDO:0018417 MONDO:equivalentTo Orphanet:401800 autosomal recessive spastic paraplegia type 60 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 60 -MONDO:0018418 MONDO:equivalentTo Orphanet:401815 autosomal recessive spastic paraplegia type 66 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 66 -MONDO:0018419 MONDO:equivalentTo Orphanet:401820 autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 67 -MONDO:0018421 MONDO:equivalentTo Orphanet:401830 autosomal recessive spastic paraplegia type 69 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 69 -MONDO:0018422 MONDO:equivalentTo Orphanet:401835 autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 70 -MONDO:0018423 MONDO:equivalentTo Orphanet:401840 autosomal recessive spastic paraplegia type 71 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 71 -MONDO:0018425 MONDO:equivalentTo Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like syndrome due to c9orf72 expansions -MONDO:0018426 MONDO:equivalentTo Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axin2-related attenuated familial adenomatous polyposis -MONDO:0018428 MONDO:equivalentTo Orphanet:401923 9q31.1q31.3 microdeletion syndrome 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q31.1q31.3 microdeletion syndrome -MONDO:0018429 MONDO:equivalentTo Orphanet:401935 14q24.1q24.3 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q24.1q24.3 microdeletion syndrome -MONDO:0018430 MONDO:equivalentTo Orphanet:401959 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome -MONDO:0018432 MONDO:equivalentTo Orphanet:402007 lichen myxedematosus Lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen myxedematosus -MONDO:0018433 MONDO:equivalentTo Orphanet:402014 acute myeloid leukemia with t(6;9)(p23;q34) Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(6;9)(p23;q34) -MONDO:0018434 MONDO:equivalentTo Orphanet:402017 acute myeloid leukemia with t(9;11)(p22;q23) Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(9;11)(p22;q23) -MONDO:0018436 MONDO:equivalentTo Orphanet:402023 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) -MONDO:0018437 MONDO:equivalentTo Orphanet:402026 acute myeloid leukemia with NPM1 somatic mutations Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with npm1 somatic mutations -MONDO:0018439 MONDO:equivalentTo Orphanet:402035 eosinophilic colitis Eosinophilic colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic colitis -MONDO:0018440 MONDO:equivalentTo Orphanet:402041 autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive distal renal tubular acidosis -MONDO:0018442 MONDO:equivalentTo Orphanet:40366 acitretin/etretinate embryopathy Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acitretin/etretinate embryopathy -MONDO:0018443 MONDO:equivalentTo Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome -MONDO:0018447 MONDO:equivalentTo Orphanet:404507 chondromyxoid fibroma Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromyxoid fibroma -MONDO:0018448 MONDO:equivalentTo Orphanet:404511 clear cell papillary renal cell carcinoma Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell papillary renal cell carcinoma -MONDO:0018449 MONDO:equivalentTo Orphanet:404514 acquired cystic disease-associated renal cell carcinoma Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disease-associated renal cell carcinoma -MONDO:0018450 MONDO:equivalentTo Orphanet:404521 spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy with respiratory distress type 2 -MONDO:0018453 MONDO:equivalentTo Orphanet:404560 familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atypical multiple mole melanoma syndrome -MONDO:0018454 MONDO:equivalentTo Orphanet:404568 dysostosis of genetic origin Dysostosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis of genetic origin -MONDO:0018456 MONDO:equivalentTo Orphanet:404580 polyarticular juvenile idiopathic arthritis Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarticular juvenile idiopathic arthritis -MONDO:0018458 MONDO:equivalentTo Orphanet:405 familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypocalciuric hypercalcemia -MONDO:0018459 MONDO:equivalentTo Orphanet:408 isolated glycerol kinase deficiency Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated glycerol kinase deficiency -MONDO:0018460 MONDO:equivalentTo Orphanet:40923 Eales disease Eales disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eales disease -MONDO:0018461 MONDO:equivalentTo Orphanet:411511 Angelman syndrome due to a point mutation Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to a point mutation -MONDO:0018462 MONDO:equivalentTo Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to imprinting defect in 15q11-q13 -MONDO:0018463 MONDO:equivalentTo Orphanet:411536 mild phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild phosphoribosylpyrophosphate synthetase superactivity -MONDO:0018464 MONDO:equivalentTo Orphanet:411543 severe phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe phosphoribosylpyrophosphate synthetase superactivity -MONDO:0018465 MONDO:equivalentTo Orphanet:411593 insulin autoimmune syndrome Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin autoimmune syndrome -MONDO:0018468 MONDO:equivalentTo Orphanet:411696 proton-pump inhibitor-responsive esophageal eosinophilia Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proton-pump inhibitor-responsive esophageal eosinophilia -MONDO:0018469 MONDO:equivalentTo Orphanet:411703 pulmonary non-tuberculous mycobacterial infection Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary non-tuberculous mycobacterial infection -MONDO:0018470 MONDO:equivalentTo Orphanet:411709 renal agenesis Renal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis -MONDO:0018471 MONDO:equivalentTo Orphanet:411777 generalized eruptive keratoacanthoma Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized eruptive keratoacanthoma -MONDO:0018472 MONDO:equivalentTo Orphanet:411788 familial isolated trichomegaly Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated trichomegaly -MONDO:0018474 MONDO:equivalentTo Orphanet:412035 13q12.3 microdeletion syndrome 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 13q12.3 microdeletion syndrome -MONDO:0018475 MONDO:equivalentTo Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prkar1b-related neurodegenerative dementia with intermediate filaments -MONDO:0018476 MONDO:equivalentTo Orphanet:412217 dystonia-aphonia syndrome Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia-aphonia syndrome -MONDO:0018477 MONDO:equivalentTo Orphanet:415286 bilirubin encephalopathy Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilirubin encephalopathy -MONDO:0018479 MONDO:equivalentTo Orphanet:418 congenital adrenal hyperplasia Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia -MONDO:0018480 MONDO:equivalentTo Orphanet:418945 carcinoma of esophagus, salivary gland type Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of esophagus, salivary gland type -MONDO:0018481 MONDO:equivalentTo Orphanet:418951 undifferentiated carcinoma of esophagus Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of esophagus -MONDO:0018483 MONDO:equivalentTo Orphanet:420259 secondary pulmonary alveolar proteinosis Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary pulmonary alveolar proteinosis -MONDO:0018484 MONDO:equivalentTo Orphanet:420402 semicircular canal dehiscence syndrome Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semicircular canal dehiscence syndrome -MONDO:0018485 MONDO:equivalentTo Orphanet:420429 glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to acid maltase deficiency, late-onset -MONDO:0018486 MONDO:equivalentTo Orphanet:420556 visual snow syndrome Visual snow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visual snow syndrome -MONDO:0018487 MONDO:equivalentTo Orphanet:420699 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to cxcr2 deficiency -MONDO:0018489 MONDO:equivalentTo Orphanet:420789 autoimmune encephalopathy with parasomnia and obstructive sleep apnea Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalopathy with parasomnia and obstructive sleep apnea -MONDO:0018490 MONDO:equivalentTo Orphanet:420794 cono-spondylar dysplasia Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cono-spondylar dysplasia -MONDO:0018492 MONDO:equivalentTo Orphanet:422526 hereditary clear cell renal cell carcinoma Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary clear cell renal cell carcinoma -MONDO:0018493 MONDO:equivalentTo Orphanet:423 malignant hyperthermia of anesthesia Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant hyperthermia of anesthesia -MONDO:0018494 MONDO:equivalentTo Orphanet:423306 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-short stature-intellectual disability-facial dysmorphism syndrome -MONDO:0018495 MONDO:equivalentTo Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome -MONDO:0018496 MONDO:equivalentTo Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum ARX-related encephalopathy-brain malformation spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arx-related encephalopathy-brain malformation spectrum -MONDO:0018498 MONDO:equivalentTo Orphanet:423693 double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subaortic or doubly committed ventricular septal defect -MONDO:0018499 MONDO:equivalentTo Orphanet:423712 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy -MONDO:0018500 MONDO:equivalentTo Orphanet:423717 cutaneous larva migrans Cutaneous larva migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous larva migrans -MONDO:0018502 MONDO:equivalentTo Orphanet:423776 hereditary gastric cancer Hereditary gastric cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary gastric cancer -MONDO:0018504 MONDO:equivalentTo Orphanet:423786 undifferentiated carcinoma of stomach Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of stomach -MONDO:0018506 MONDO:equivalentTo Orphanet:423798 mesenchymal tumor of small intestine Mesenchymal tumor of small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesenchymal tumor of small intestine -MONDO:0018507 MONDO:equivalentTo Orphanet:423894 microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-complex motor and sensory axonal neuropathy syndrome -MONDO:0018509 MONDO:equivalentTo Orphanet:423968 squamous cell carcinoma of the small intestine Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of the small intestine -MONDO:0018511 MONDO:equivalentTo Orphanet:423982 epithelial tumor of the appendix Epithelial tumor of the appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial tumor of the appendix -MONDO:0018516 MONDO:equivalentTo Orphanet:424010 epithelial tumor of anal canal Epithelial tumor of anal canal semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial tumor of anal canal -MONDO:0018521 MONDO:equivalentTo Orphanet:424039 squamous cell carcinoma of pancreas Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of pancreas -MONDO:0018525 MONDO:equivalentTo Orphanet:424065 solid pseudopapillary carcinoma of pancreas Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solid pseudopapillary carcinoma of pancreas -MONDO:0018528 MONDO:equivalentTo Orphanet:424107 congenital myopathy with myasthenic-like onset Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with myasthenic-like onset -MONDO:0018531 MONDO:equivalentTo Orphanet:424936 carcinoma of liver and intrahepatic biliary tract Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of liver and intrahepatic biliary tract -MONDO:0018533 MONDO:equivalentTo Orphanet:424970 undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of liver and intrahepatic biliary tract -MONDO:0018534 MONDO:equivalentTo Orphanet:424975 squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of liver and intrahepatic biliary tract -MONDO:0018535 MONDO:equivalentTo Orphanet:424982 biliary cystadenocarcinoma Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biliary cystadenocarcinoma -MONDO:0018537 MONDO:equivalentTo Orphanet:424996 squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of gallbladder and extrahepatic biliary tract -MONDO:0018540 MONDO:equivalentTo Orphanet:42642 PFAPA syndrome PFAPA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfapa syndrome -MONDO:0018541 MONDO:equivalentTo Orphanet:427 familial hypoaldosteronism Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypoaldosteronism -MONDO:0018542 MONDO:equivalentTo Orphanet:42738 severe congenital neutropenia Severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia -MONDO:0018543 MONDO:equivalentTo Orphanet:428 autosomal dominant hypocalcemia Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypocalcemia -MONDO:0018546 MONDO:equivalentTo Orphanet:43116 serotonin syndrome Serotonin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serotonin syndrome -MONDO:0018547 MONDO:equivalentTo Orphanet:43117 acute tricyclic antidepressant poisoning Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tricyclic antidepressant poisoning -MONDO:0018548 MONDO:equivalentTo Orphanet:43119 acute poisoning by drugs with membrane-stabilizing effect Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute poisoning by drugs with membrane-stabilizing effect -MONDO:0018551 MONDO:equivalentTo Orphanet:431341 patent urachus Patent urachus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent urachus -MONDO:0018552 MONDO:equivalentTo Orphanet:431344 urachal sinus Urachal sinus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal sinus -MONDO:0018553 MONDO:equivalentTo Orphanet:431347 urachal diverticulum Urachal diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal diverticulum -MONDO:0018554 MONDO:equivalentTo Orphanet:431353 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -MONDO:0018556 MONDO:equivalentTo Orphanet:43393 Lambert-Eaton myasthenic syndrome Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lambert-eaton myasthenic syndrome -MONDO:0018559 MONDO:equivalentTo Orphanet:435365 fetal lower urinary tract obstruction Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lower urinary tract obstruction -MONDO:0018564 MONDO:equivalentTo Orphanet:435638 3p25.3 microdeletion syndrome 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3p25.3 microdeletion syndrome -MONDO:0018565 MONDO:equivalentTo Orphanet:435743 congenital urachal anomaly Congenital urachal anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital urachal anomaly -MONDO:0018566 MONDO:equivalentTo Orphanet:435804 short stature-advanced bone age-early-onset osteoarthritis syndrome Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-advanced bone age-early-onset osteoarthritis syndrome -MONDO:0018567 MONDO:equivalentTo Orphanet:435819 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation -MONDO:0018569 MONDO:equivalentTo Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome -MONDO:0018570 MONDO:equivalentTo Orphanet:436 hypophosphatasia Hypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatasia -MONDO:0018571 MONDO:equivalentTo Orphanet:436003 contractures-developmental delay-Pierre Robin syndrome Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures-developmental delay-pierre robin syndrome -MONDO:0018572 MONDO:equivalentTo Orphanet:436141 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome -MONDO:0018573 MONDO:equivalentTo Orphanet:436144 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrauterine growth restriction-short stature-early adult-onset diabetes syndrome -MONDO:0018574 MONDO:equivalentTo Orphanet:436151 intellectual disability-expressive aphasia-facial dysmorphism syndrome Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-expressive aphasia-facial dysmorphism syndrome -MONDO:0018576 MONDO:equivalentTo Orphanet:436271 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy -MONDO:0018577 MONDO:equivalentTo Orphanet:436274 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa -MONDO:0018581 MONDO:equivalentTo Orphanet:438266 progressive encephalomyelitis with rigidity and myoclonus Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive encephalomyelitis with rigidity and myoclonus -MONDO:0018582 MONDO:equivalentTo Orphanet:438274 GCGR-related hyperglucagonemia GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gcgr-related hyperglucagonemia -MONDO:0018583 MONDO:equivalentTo Orphanet:438279 human infection by orthopoxvirus Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label human infection by orthopoxvirus -MONDO:0018585 MONDO:equivalentTo Orphanet:439175 pediatric arterial ischemic stroke Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric arterial ischemic stroke -MONDO:0018586 MONDO:equivalentTo Orphanet:439196 zinc-responsive necrolytic acral erythema Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zinc-responsive necrolytic acral erythema -MONDO:0018587 MONDO:equivalentTo Orphanet:439202 non-recovering obstetric brachial plexus lesion Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-recovering obstetric brachial plexus lesion -MONDO:0018588 MONDO:equivalentTo Orphanet:439224 ALECT2 amyloidosis ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alect2 amyloidosis -MONDO:0018589 MONDO:equivalentTo Orphanet:439232 AApoAIV amyloidosis AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aapoaiv amyloidosis -MONDO:0018590 MONDO:equivalentTo Orphanet:439246 ABeta2M amyloidosis ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta2m amyloidosis -MONDO:0018591 MONDO:equivalentTo Orphanet:439254 ITM2B amyloidosis ITM2B amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label itm2b amyloidosis -MONDO:0018592 MONDO:equivalentTo Orphanet:439729 cutaneous polyarteritis nodosa Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous polyarteritis nodosa -MONDO:0018593 MONDO:equivalentTo Orphanet:439737 primary polyarteritis nodosa Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary polyarteritis nodosa -MONDO:0018594 MONDO:equivalentTo Orphanet:439746 secondary polyarteritis nodosa Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polyarteritis nodosa -MONDO:0018595 MONDO:equivalentTo Orphanet:439755 single-organ polyarteritis nodosa Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label single-organ polyarteritis nodosa -MONDO:0018596 MONDO:equivalentTo Orphanet:439762 systemic polyarteritis nodosa Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic polyarteritis nodosa -MONDO:0018597 MONDO:equivalentTo Orphanet:439881 plastic bronchitis Plastic bronchitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plastic bronchitis -MONDO:0018599 MONDO:equivalentTo Orphanet:440221 congenital oculomotor nerve palsy Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital oculomotor nerve palsy -MONDO:0018600 MONDO:equivalentTo Orphanet:440233 congenital abducens nerve palsy Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital abducens nerve palsy -MONDO:0018601 MONDO:equivalentTo Orphanet:440354 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome -MONDO:0018602 MONDO:equivalentTo Orphanet:440368 necrotizing soft tissue infection Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing soft tissue infection -MONDO:0018603 MONDO:equivalentTo Orphanet:440392 interstitial lung disease due to SP-C deficiency Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease due to sp-c deficiency -MONDO:0018604 MONDO:equivalentTo Orphanet:440437 familial colorectal cancer type X Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial colorectal cancer type x -MONDO:0018605 MONDO:equivalentTo Orphanet:440701 disorders of pentose/polyol metabolism Disorders of pentose/polyol metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorders of pentose/polyol metabolism -MONDO:0018606 MONDO:equivalentTo Orphanet:440724 extensive peripapillary myelinated nerve fibers Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensive peripapillary myelinated nerve fibers -MONDO:0018607 MONDO:equivalentTo Orphanet:440727 combined hamartoma of the retina and retinal pigment epithelium Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium -MONDO:0018608 MONDO:equivalentTo Orphanet:441 pure autonomic failure Pure autonomic failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure autonomic failure -MONDO:0018610 MONDO:equivalentTo Orphanet:441447 early-onset posterior subcapsular cataract Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset posterior subcapsular cataract -MONDO:0018611 MONDO:equivalentTo Orphanet:441452 early-onset lamellar cataract Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset lamellar cataract -MONDO:0018612 MONDO:equivalentTo Orphanet:442 congenital hypothyroidism Congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypothyroidism -MONDO:0018613 MONDO:equivalentTo Orphanet:442582 AH amyloidosis AH amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis -MONDO:0018615 MONDO:equivalentTo Orphanet:443070 hemicrania continua Hemicrania continua semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemicrania continua -MONDO:0018616 MONDO:equivalentTo Orphanet:443079 central serous chorioretinopathy Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central serous chorioretinopathy -MONDO:0018617 MONDO:equivalentTo Orphanet:443084 baroreflex failure Baroreflex failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baroreflex failure -MONDO:0018620 MONDO:equivalentTo Orphanet:443101 hypothalamic adipsic hypernatraemia syndrome Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothalamic adipsic hypernatraemia syndrome -MONDO:0018621 MONDO:equivalentTo Orphanet:443159 lymphoplasmacytic lymphoma without IgM production Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoplasmacytic lymphoma without igm production -MONDO:0018623 MONDO:equivalentTo Orphanet:443173 postpartum psychosis Postpartum psychosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum psychosis -MONDO:0018624 MONDO:equivalentTo Orphanet:443180 spontaneous intracranial hypotension Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous intracranial hypotension -MONDO:0018625 MONDO:equivalentTo Orphanet:443192 classic stiff person syndrome Classic stiff person syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic stiff person syndrome -MONDO:0018626 MONDO:equivalentTo Orphanet:443227 paratyphoid fever Paratyphoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paratyphoid fever -MONDO:0018628 MONDO:equivalentTo Orphanet:443291 HIV-associated cancer HIV-associated cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hiv-associated cancer -MONDO:0018629 MONDO:equivalentTo Orphanet:443804 focal stiff limb syndrome Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal stiff limb syndrome -MONDO:0018630 MONDO:equivalentTo Orphanet:443909 hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary nonpolyposis colon cancer -MONDO:0018631 MONDO:equivalentTo Orphanet:444 Marie Unna hereditary hypotrichosis Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marie unna hereditary hypotrichosis -MONDO:0018632 MONDO:equivalentTo Orphanet:444002 11q22.2q22.3 microdeletion syndrome 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 11q22.2q22.3 microdeletion syndrome -MONDO:0018633 MONDO:equivalentTo Orphanet:444051 20q11.2 microdeletion syndrome 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q11.2 microdeletion syndrome -MONDO:0018634 MONDO:equivalentTo Orphanet:444116 hereditary amyloidosis Hereditary amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary amyloidosis -MONDO:0018635 MONDO:equivalentTo Orphanet:444316 idiopathic phalangeal acro-osteolysis Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic phalangeal acro-osteolysis -MONDO:0018636 MONDO:equivalentTo Orphanet:444463 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome -MONDO:0018637 MONDO:equivalentTo Orphanet:444490 familial chylomicronemia syndrome Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial chylomicronemia syndrome -MONDO:0018638 MONDO:equivalentTo Orphanet:444916 pseudohypoaldosteronism Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism -MONDO:0018639 MONDO:equivalentTo Orphanet:444941 caudal regression-sirenomelia spectrum Caudal regression-sirenomelia spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal regression-sirenomelia spectrum -MONDO:0018640 MONDO:equivalentTo Orphanet:445197 secondary vasculitis Secondary vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary vasculitis -MONDO:0018642 MONDO:equivalentTo Orphanet:447731 NIK deficiency NIK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nik deficiency -MONDO:0018643 MONDO:equivalentTo Orphanet:447740 susceptibility to localized juvenile periodontitis Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susceptibility to localized juvenile periodontitis -MONDO:0018645 MONDO:equivalentTo Orphanet:447764 IgG4-related sclerosing cholangitis IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related sclerosing cholangitis -MONDO:0018646 MONDO:equivalentTo Orphanet:447771 sclerosing cholangitis Sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing cholangitis -MONDO:0018647 MONDO:equivalentTo Orphanet:447774 secondary sclerosing cholangitis Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary sclerosing cholangitis -MONDO:0018648 MONDO:equivalentTo Orphanet:447777 Keratocystic odontogenic tumor Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratocystic odontogenic tumor -MONDO:0018653 MONDO:equivalentTo Orphanet:447877 Polymerase proofreading-related adenomatous polyposis Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymerase proofreading-related adenomatous polyposis -MONDO:0018654 MONDO:equivalentTo Orphanet:447881 idiopathic dropped head syndrome Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic dropped head syndrome -MONDO:0018655 MONDO:equivalentTo Orphanet:447893 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome -MONDO:0018656 MONDO:equivalentTo Orphanet:447896 tremor-ataxia-central hypomyelination syndrome Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tremor-ataxia-central hypomyelination syndrome -MONDO:0018657 MONDO:equivalentTo Orphanet:447961 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome -MONDO:0018658 MONDO:equivalentTo Orphanet:447980 19p13.3 microduplication syndrome 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 19p13.3 microduplication syndrome -MONDO:0018659 MONDO:equivalentTo Orphanet:447985 partial duplication of the short arm of chromosome 19 Partial duplication of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 19 -MONDO:0018660 MONDO:equivalentTo Orphanet:448 hemophilia Hemophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia -MONDO:0018662 MONDO:equivalentTo Orphanet:448242 autosomal recessive brachyolmia Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive brachyolmia -MONDO:0018663 MONDO:equivalentTo Orphanet:448267 regressive spondylometaphyseal dysplasia Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regressive spondylometaphyseal dysplasia -MONDO:0018664 MONDO:equivalentTo Orphanet:448270 ectopia cordis Ectopia cordis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopia cordis -MONDO:0018666 MONDO:equivalentTo Orphanet:449 hepatoblastoma Hepatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoblastoma -MONDO:0018667 MONDO:equivalentTo Orphanet:449266 pleural empyema Pleural empyema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural empyema -MONDO:0018668 MONDO:equivalentTo Orphanet:449280 scedosporiosis Scedosporiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scedosporiosis -MONDO:0018669 MONDO:equivalentTo Orphanet:449285 snakebite envenomation Snakebite envenomation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label snakebite envenomation -MONDO:0018671 MONDO:equivalentTo Orphanet:449395 IgG4-related kidney disease IgG4-related kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related kidney disease -MONDO:0018672 MONDO:equivalentTo Orphanet:449400 IgG4-related aortitis IgG4-related aortitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related aortitis -MONDO:0018673 MONDO:equivalentTo Orphanet:449427 IgG4-related pachymeningitis IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related pachymeningitis -MONDO:0018674 MONDO:equivalentTo Orphanet:449432 IgG4-related submandibular gland disease IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related submandibular gland disease -MONDO:0018676 MONDO:equivalentTo Orphanet:449566 eosinophilic angiocentric fibrosis Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic angiocentric fibrosis -MONDO:0018678 MONDO:equivalentTo Orphanet:450322 polyclonal hyperviscosity syndrome Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyclonal hyperviscosity syndrome -MONDO:0018679 MONDO:equivalentTo Orphanet:451602 primary cutaneous plasmacytosis Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous plasmacytosis -MONDO:0018680 MONDO:equivalentTo Orphanet:451607 cutaneous pseudolymphoma Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous pseudolymphoma -MONDO:0018682 MONDO:equivalentTo Orphanet:453510 congenital insensitivity to pain with severe intellectual disability Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital insensitivity to pain with severe intellectual disability -MONDO:0018683 MONDO:equivalentTo Orphanet:454 acquired ichthyosis Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis -MONDO:0018684 MONDO:equivalentTo Orphanet:45452 idiopathic neonatal atrial flutter Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic neonatal atrial flutter -MONDO:0018685 MONDO:equivalentTo Orphanet:45453 incessant infant ventricular tachycardia Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incessant infant ventricular tachycardia -MONDO:0018686 MONDO:equivalentTo Orphanet:454700 acquired Creutzfeldt-Jakob disease Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired creutzfeldt-jakob disease -MONDO:0018687 MONDO:equivalentTo Orphanet:454706 progressive muscular atrophy Progressive muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive muscular atrophy -MONDO:0018688 MONDO:equivalentTo Orphanet:454710 anti-p200 pemphigoid Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-p200 pemphigoid -MONDO:0018689 MONDO:equivalentTo Orphanet:454714 plasma cell leukemia Plasma cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasma cell leukemia -MONDO:0018690 MONDO:equivalentTo Orphanet:454718 Holmes-Adie syndrome Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holmes-adie syndrome -MONDO:0018692 MONDO:equivalentTo Orphanet:454742 variably protease-sensitive prionopathy Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variably protease-sensitive prionopathy -MONDO:0018695 MONDO:equivalentTo Orphanet:454836 avian influenza Avian influenza semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avian influenza -MONDO:0018696 MONDO:equivalentTo Orphanet:454887 corticobasal syndrome Corticobasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticobasal syndrome -MONDO:0018697 MONDO:equivalentTo Orphanet:456298 1p35.2 microdeletion syndrome 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1p35.2 microdeletion syndrome -MONDO:0018698 MONDO:equivalentTo Orphanet:456333 hereditary neuroendocrine tumor of small intestine Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neuroendocrine tumor of small intestine -MONDO:0018701 MONDO:equivalentTo Orphanet:457074 congenital nemaline myopathy Congenital nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital nemaline myopathy -MONDO:0018703 MONDO:equivalentTo Orphanet:457083 isolated splenogonadal fusion Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated splenogonadal fusion -MONDO:0018705 MONDO:equivalentTo Orphanet:457205 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome -MONDO:0018706 MONDO:equivalentTo Orphanet:457223 syndromic sensorineural deafness due to combined oxidative phosphorylation defect Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic sensorineural deafness due to combined oxidative phosphorylation defect -MONDO:0018709 MONDO:equivalentTo Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypotonia-movement disorder syndrome -MONDO:0018710 MONDO:equivalentTo Orphanet:457359 megalencephaly-severe kyphoscoliosis-overgrowth syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-severe kyphoscoliosis-overgrowth syndrome -MONDO:0018711 MONDO:equivalentTo Orphanet:457365 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome -MONDO:0018712 MONDO:equivalentTo Orphanet:458758 composite hemangioendothelioma Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label composite hemangioendothelioma -MONDO:0018713 MONDO:equivalentTo Orphanet:458763 retiform hemangioendothelioma Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retiform hemangioendothelioma -MONDO:0018714 MONDO:equivalentTo Orphanet:458768 primary intralymphatic angioendothelioma Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intralymphatic angioendothelioma -MONDO:0018715 MONDO:equivalentTo Orphanet:458775 congenital hemangioma Congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hemangioma -MONDO:0018716 MONDO:equivalentTo Orphanet:458785 partially involuting congenital hemangioma Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma -MONDO:0018717 MONDO:equivalentTo Orphanet:458792 mixed cystic lymphatic malformation Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed cystic lymphatic malformation -MONDO:0018724 MONDO:equivalentTo Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome -MONDO:0018725 MONDO:equivalentTo Orphanet:459074 corpus callosum agenesis-macrocephaly-hypertelorism syndrome Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-macrocephaly-hypertelorism syndrome -MONDO:0018731 MONDO:equivalentTo Orphanet:459787 lethal multiple congenital anomalies/dysmorphic syndrome Lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018733 MONDO:equivalentTo Orphanet:464311 intellectual disability syndrome due to a DYRK1A point mutation Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability syndrome due to a dyrk1a point mutation -MONDO:0018734 MONDO:equivalentTo Orphanet:464318 verrucous hemangioma Verrucous hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verrucous hemangioma -MONDO:0018735 MONDO:equivalentTo Orphanet:464321 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome -MONDO:0018736 MONDO:equivalentTo Orphanet:464329 kaposiform lymphangiomatosis Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposiform lymphangiomatosis -MONDO:0018737 MONDO:equivalentTo Orphanet:464343 catastrophic antiphospholipid syndrome Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catastrophic antiphospholipid syndrome -MONDO:0018738 MONDO:equivalentTo Orphanet:464359 benign metanephric tumor Benign metanephric tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign metanephric tumor -MONDO:0018739 MONDO:equivalentTo Orphanet:464370 neonatal alloimmune neutropenia Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal alloimmune neutropenia -MONDO:0018741 MONDO:equivalentTo Orphanet:464458 paracetamol poisoning Paracetamol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracetamol poisoning -MONDO:0018742 MONDO:equivalentTo Orphanet:464756 familial gastric type 1 neuroendocrine tumor Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gastric type 1 neuroendocrine tumor -MONDO:0018744 MONDO:equivalentTo Orphanet:46484 oligodendroglial tumor Oligodendroglial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodendroglial tumor -MONDO:0018746 MONDO:equivalentTo Orphanet:46486 mucous membrane pemphigoid Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucous membrane pemphigoid -MONDO:0018748 MONDO:equivalentTo Orphanet:46488 linear IgA Dermatosis Linear IgA dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear iga dermatosis -MONDO:0018749 MONDO:equivalentTo Orphanet:46532 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome -MONDO:0018752 MONDO:equivalentTo Orphanet:466650 exercise-induced malignant hyperthermia Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exercise-induced malignant hyperthermia -MONDO:0018754 MONDO:equivalentTo Orphanet:466670 cyanide poisoning Cyanide poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyanide poisoning -MONDO:0018755 MONDO:equivalentTo Orphanet:466677 scorpion envenomation Scorpion envenomation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scorpion envenomation -MONDO:0018756 MONDO:equivalentTo Orphanet:466682 euthyroid Graves orbitopathy Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euthyroid graves orbitopathy -MONDO:0018757 MONDO:equivalentTo Orphanet:466695 supratip dysplasia Supratip dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supratip dysplasia -MONDO:0018759 MONDO:equivalentTo Orphanet:466921 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome -MONDO:0018761 MONDO:equivalentTo Orphanet:466962 SMARCA4-deficient sarcoma of thorax SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smarca4-deficient sarcoma of thorax -MONDO:0018762 MONDO:equivalentTo Orphanet:467 non-acquired combined pituitary hormone deficiency Non-acquired combined pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-acquired combined pituitary hormone deficiency -MONDO:0018763 MONDO:equivalentTo Orphanet:467166 tubulinopathy-associated dysgyria Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulinopathy-associated dysgyria -MONDO:0018765 MONDO:equivalentTo Orphanet:468635 cryptogenic multifocal ulcerous stenosing enteritis Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic multifocal ulcerous stenosing enteritis -MONDO:0018766 MONDO:equivalentTo Orphanet:468641 chronic enteropathy associated with SLCO2A1 gene Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic enteropathy associated with slco2a1 gene -MONDO:0018767 MONDO:equivalentTo Orphanet:468726 severe primary trimethylaminuria Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe primary trimethylaminuria -MONDO:0018769 MONDO:equivalentTo Orphanet:472 isosporiasis Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis -MONDO:0018770 MONDO:equivalentTo Orphanet:474 Jeune syndrome Jeune syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jeune syndrome -MONDO:0018772 MONDO:equivalentTo Orphanet:475 Joubert syndrome Joubert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome -MONDO:0018773 MONDO:equivalentTo Orphanet:476093 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome -MONDO:0018774 MONDO:equivalentTo Orphanet:476096 erythrokeratodermia-cardiomyopathy syndrome Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia-cardiomyopathy syndrome -MONDO:0018776 MONDO:equivalentTo Orphanet:476116 demyelinating hereditary motor and sensory neuropathy Demyelinating hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label demyelinating hereditary motor and sensory neuropathy -MONDO:0018777 MONDO:equivalentTo Orphanet:476119 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome -MONDO:0018778 MONDO:equivalentTo Orphanet:476123 intermediate Charcot-Marie-Tooth disease Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate charcot-marie-tooth disease -MONDO:0018780 MONDO:equivalentTo Orphanet:476406 congenital generalized hypercontractile muscle stiffness syndrome Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized hypercontractile muscle stiffness syndrome -MONDO:0018781 MONDO:equivalentTo Orphanet:477 KID syndrome KID syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kid syndrome -MONDO:0018783 MONDO:equivalentTo Orphanet:477650 fibroblastic rheumatism Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibroblastic rheumatism -MONDO:0018784 MONDO:equivalentTo Orphanet:477738 pediatric multiple sclerosis Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric multiple sclerosis -MONDO:0018793 MONDO:equivalentTo Orphanet:477781 primary condylar hyperplasia Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary condylar hyperplasia -MONDO:0018794 MONDO:equivalentTo Orphanet:477787 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder -MONDO:0018795 MONDO:equivalentTo Orphanet:477794 syndromic constitutional thrombocytopenia Syndromic constitutional thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic constitutional thrombocytopenia -MONDO:0018800 MONDO:equivalentTo Orphanet:478 Kallmann syndrome Kallmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kallmann syndrome -MONDO:0018801 MONDO:equivalentTo Orphanet:48 congenital bilateral absence of vas deferens Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral absence of vas deferens -MONDO:0018804 MONDO:equivalentTo Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myo5b-related progressive familial intrahepatic cholestasis -MONDO:0018806 MONDO:equivalentTo Orphanet:480506 primary intrahepatic lithiasis Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intrahepatic lithiasis -MONDO:0018807 MONDO:equivalentTo Orphanet:480512 idiopathic ductopenia Idiopathic ductopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic ductopenia -MONDO:0018808 MONDO:equivalentTo Orphanet:480520 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome -MONDO:0018809 MONDO:equivalentTo Orphanet:480524 idiopathic peliosis hepatis Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peliosis hepatis -MONDO:0018810 MONDO:equivalentTo Orphanet:480528 lethal hydranencephaly-diaphragmatic hernia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal hydranencephaly-diaphragmatic hernia syndrome -MONDO:0018811 MONDO:equivalentTo Orphanet:480531 congenital portosystemic shunt Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital portosystemic shunt -MONDO:0018812 MONDO:equivalentTo Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label msh3-related attenuated familial adenomatous polyposis -MONDO:0018813 MONDO:equivalentTo Orphanet:480541 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement -MONDO:0018815 MONDO:equivalentTo Orphanet:480553 aneurysmal bone cyst Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst -MONDO:0018816 MONDO:equivalentTo Orphanet:480556 isolated neonatal sclerosing cholangitis Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated neonatal sclerosing cholangitis -MONDO:0018818 MONDO:equivalentTo Orphanet:480701 facial diplegia with paresthesias Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial diplegia with paresthesias -MONDO:0018820 MONDO:equivalentTo Orphanet:480864 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome -MONDO:0018821 MONDO:equivalentTo Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability -MONDO:0018822 MONDO:equivalentTo Orphanet:480898 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome -MONDO:0018823 MONDO:equivalentTo Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome -MONDO:0018824 MONDO:equivalentTo Orphanet:48104 pyoderma gangrenosum Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum -MONDO:0018825 MONDO:equivalentTo Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycr2-related microcephaly-progressive leukoencephalopathy -MONDO:0018826 MONDO:equivalentTo Orphanet:48162 Lewis-Sumner syndrome Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lewis-sumner syndrome -MONDO:0018827 MONDO:equivalentTo Orphanet:481662 familial chilblain lupus Familial Chilblain lupus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial chilblain lupus -MONDO:0018829 MONDO:equivalentTo Orphanet:481986 familial schizencephaly Familial schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial schizencephaly -MONDO:0018830 MONDO:equivalentTo Orphanet:482 Kimura disease Kimura disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kimura disease -MONDO:0018832 MONDO:equivalentTo Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label htra1-related autosomal dominant cerebral small vessel disease -MONDO:0018835 MONDO:equivalentTo Orphanet:48372 nodular regenerative hyperplasia of the liver Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular regenerative hyperplasia of the liver -MONDO:0018837 MONDO:equivalentTo Orphanet:48435 postinfectious vasculitis Postinfectious vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious vasculitis -MONDO:0018839 MONDO:equivalentTo Orphanet:485275 acquired schizencephaly Acquired schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired schizencephaly -MONDO:0018840 MONDO:equivalentTo Orphanet:485426 isolated congenital hepatic fibrosis Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hepatic fibrosis -MONDO:0018841 MONDO:equivalentTo Orphanet:485631 congenital bile acid synthesis defect Congenital bile acid synthesis defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bile acid synthesis defect -MONDO:0018842 MONDO:equivalentTo Orphanet:48686 primary effusion lymphoma Primary effusion lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary effusion lymphoma -MONDO:0018843 MONDO:equivalentTo Orphanet:48736 embryonal carcinoma of the central nervous system Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal carcinoma of the central nervous system -MONDO:0018844 MONDO:equivalentTo Orphanet:488 urachal cyst Urachal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal cyst -MONDO:0018845 MONDO:equivalentTo Orphanet:48918 focal myositis Focal myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal myositis -MONDO:0018846 MONDO:equivalentTo Orphanet:49 penile agenesis Penile agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label penile agenesis -MONDO:0018847 MONDO:equivalentTo Orphanet:490 omphalomesenteric cyst Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalomesenteric cyst -MONDO:0018848 MONDO:equivalentTo Orphanet:49041 IgG4-related retroperitoneal fibrosis IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related retroperitoneal fibrosis -MONDO:0018849 MONDO:equivalentTo Orphanet:49042 dentinogenesis imperfecta Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta -MONDO:0018850 MONDO:equivalentTo Orphanet:492 proliferating trichilemmal cyst Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proliferating trichilemmal cyst -MONDO:0018851 MONDO:equivalentTo Orphanet:493 familial keratoacanthoma Familial keratoacanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial keratoacanthoma -MONDO:0018852 MONDO:equivalentTo Orphanet:49382 achromatopsia Achromatopsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia -MONDO:0018853 MONDO:equivalentTo Orphanet:495 transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transgrediens et progrediens palmoplantar keratoderma -MONDO:0018854 MONDO:equivalentTo Orphanet:49566 acquired purpura fulminans Acquired purpura fulminans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired purpura fulminans -MONDO:0018855 MONDO:equivalentTo Orphanet:498 keratosis pilaris atrophicans Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis pilaris atrophicans -MONDO:0018856 MONDO:equivalentTo Orphanet:49804 lichen amyloidosis Lichen amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen amyloidosis -MONDO:0018857 MONDO:equivalentTo Orphanet:504 creeping myiasis Creeping myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label creeping myiasis -MONDO:0018858 MONDO:equivalentTo Orphanet:505 Graham Little-Piccardi-Lassueur syndrome Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label graham little-piccardi-lassueur syndrome -MONDO:0018860 MONDO:equivalentTo Orphanet:50810 microlissencephaly-micromelia syndrome Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly-micromelia syndrome -MONDO:0018861 MONDO:equivalentTo Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zellweger-like syndrome without peroxisomal anomalies -MONDO:0018864 MONDO:equivalentTo Orphanet:50918 Kikuchi-Fujimoto disease Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kikuchi-fujimoto disease -MONDO:0018865 MONDO:equivalentTo Orphanet:50942 striate palmoplantar keratoderma Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label striate palmoplantar keratoderma -MONDO:0018868 MONDO:equivalentTo Orphanet:512 metachromatic leukodystrophy Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy -MONDO:0018869 MONDO:equivalentTo Orphanet:51577 cobblestone lissencephaly Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cobblestone lissencephaly -MONDO:0018872 MONDO:equivalentTo Orphanet:518 acute megakaryoblastic leukemia Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia -MONDO:0018873 MONDO:equivalentTo Orphanet:51890 anterior cutaneous nerve entrapment syndrome Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior cutaneous nerve entrapment syndrome -MONDO:0018874 MONDO:equivalentTo Orphanet:519 acute myeloid leukemia Acute myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia -MONDO:0018875 MONDO:equivalentTo Orphanet:524 Li-Fraumeni syndrome Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome -MONDO:0018876 MONDO:equivalentTo Orphanet:52416 mantle cell lymphoma Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma -MONDO:0018877 MONDO:equivalentTo Orphanet:52427 retinitis punctata albescens Retinitis punctata albescens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis punctata albescens -MONDO:0018878 MONDO:equivalentTo Orphanet:52429 branchiootic syndrome Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome -MONDO:0018879 MONDO:equivalentTo Orphanet:525 lichen planopilaris Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris -MONDO:0018881 MONDO:equivalentTo Orphanet:52688 myelodysplastic syndrome Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelodysplastic syndrome -MONDO:0018882 MONDO:equivalentTo Orphanet:52759 vasculitis Vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasculitis -MONDO:0018884 MONDO:equivalentTo Orphanet:529 Roch-Leri mesosomatous lipomatosis Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label roch-leri mesosomatous lipomatosis -MONDO:0018885 MONDO:equivalentTo Orphanet:52994 orbital leiomyoma Orbital leiomyoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital leiomyoma -MONDO:0018891 MONDO:equivalentTo Orphanet:53715 familial tumoral calcinosis Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial tumoral calcinosis -MONDO:0018892 MONDO:equivalentTo Orphanet:53719 Wyburn-Mason syndrome Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wyburn-mason syndrome -MONDO:0018894 MONDO:equivalentTo Orphanet:53739 distal hereditary motor neuropathy Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy -MONDO:0018895 MONDO:equivalentTo Orphanet:54028 Plummer-Vinson syndrome Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plummer-vinson syndrome -MONDO:0018896 MONDO:equivalentTo Orphanet:54057 thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic thrombocytopenic purpura -MONDO:0018897 MONDO:equivalentTo Orphanet:541 primary cutaneous CD30+ T-cell lymphoproliferative disease Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous cd30+ t-cell lymphoproliferative disease -MONDO:0018898 MONDO:equivalentTo Orphanet:542 primary cutaneous lymphoma Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous lymphoma -MONDO:0018899 MONDO:equivalentTo Orphanet:54247 posterior cortical atrophy Posterior cortical atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior cortical atrophy -MONDO:0018900 MONDO:equivalentTo Orphanet:54251 corticosteroid-sensitive aseptic abscess syndrome Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticosteroid-sensitive aseptic abscess syndrome -MONDO:0018901 MONDO:equivalentTo Orphanet:54260 left ventricular noncompaction Left ventricular noncompaction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction -MONDO:0018902 MONDO:equivalentTo Orphanet:54272 hepatocellular adenoma Hepatocellular adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatocellular adenoma -MONDO:0018903 MONDO:equivalentTo Orphanet:54368 sarcocystosis Sarcocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcocystosis -MONDO:0018904 MONDO:equivalentTo Orphanet:54370 primary membranoproliferative glomerulonephritis Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary membranoproliferative glomerulonephritis -MONDO:0018905 MONDO:equivalentTo Orphanet:544 diffuse large B-cell lymphoma Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma -MONDO:0018906 MONDO:equivalentTo Orphanet:545 follicular lymphoma Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma -MONDO:0018907 MONDO:equivalentTo Orphanet:54595 craniopharyngioma Craniopharyngioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniopharyngioma -MONDO:0018908 MONDO:equivalentTo Orphanet:547 non-Hodgkin lymphoma Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hodgkin lymphoma -MONDO:0018910 MONDO:equivalentTo Orphanet:55 oculocutaneous albinism Oculocutaneous albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism -MONDO:0018913 MONDO:equivalentTo Orphanet:556 malakoplakia Malakoplakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malakoplakia -MONDO:0018914 MONDO:equivalentTo Orphanet:55654 hypotrichosis simplex Hypotrichosis simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis simplex -MONDO:0018918 MONDO:equivalentTo Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of gallbladder and extrahepatic biliary tract -MONDO:0018919 MONDO:equivalentTo Orphanet:562 McCune-Albright syndrome McCune-Albright syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mccune-albright syndrome -MONDO:0018920 MONDO:equivalentTo Orphanet:563 peripartum cardiomyopathy Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy -MONDO:0018921 MONDO:equivalentTo Orphanet:564 Meckel syndrome Meckel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel syndrome -MONDO:0018922 MONDO:equivalentTo Orphanet:56425 cold agglutinin disease Cold agglutinin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cold agglutinin disease -MONDO:0018923 MONDO:equivalentTo Orphanet:567 22q11.2 deletion syndrome 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome -MONDO:0018924 MONDO:equivalentTo Orphanet:568 microphthalmia, Lenz type Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia, lenz type -MONDO:0018925 MONDO:equivalentTo Orphanet:569 familial or sporadic hemiplegic migraine Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial or sporadic hemiplegic migraine -MONDO:0018926 MONDO:equivalentTo Orphanet:56970 human prion disease Human prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label human prion disease -MONDO:0018927 MONDO:equivalentTo Orphanet:57145 SUNCT syndrome SUNCT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunct syndrome -MONDO:0018929 MONDO:equivalentTo Orphanet:57196 medial condensing osteitis of the clavicle Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medial condensing osteitis of the clavicle -MONDO:0018932 MONDO:equivalentTo Orphanet:57777 cirrhotic cardiomyopathy Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhotic cardiomyopathy -MONDO:0018933 MONDO:equivalentTo Orphanet:57782 Mazabraud syndrome Mazabraud syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mazabraud syndrome -MONDO:0018936 MONDO:equivalentTo Orphanet:58040 osteoblastoma Osteoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoblastoma -MONDO:0018937 MONDO:equivalentTo Orphanet:581 mucopolysaccharidosis type 3 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 3 -MONDO:0018938 MONDO:equivalentTo Orphanet:582 mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4 -MONDO:0018939 MONDO:equivalentTo Orphanet:588 muscle-eye-brain disease Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscle-eye-brain disease -MONDO:0018940 MONDO:equivalentTo Orphanet:590 congenital myasthenic syndrome Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome -MONDO:0018941 MONDO:equivalentTo Orphanet:591 furuncular myiasis Furuncular myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis -MONDO:0018942 MONDO:equivalentTo Orphanet:592 macrophagic myofasciitis Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrophagic myofasciitis -MONDO:0018943 MONDO:equivalentTo Orphanet:593 myofibrillar myopathy Myofibrillar myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myofibrillar myopathy -MONDO:0018944 MONDO:equivalentTo Orphanet:59305 gestational trophoblastic neoplasm Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational trophoblastic neoplasm -MONDO:0018945 MONDO:equivalentTo Orphanet:59306 McLeod neuroacanthocytosis syndrome McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mcleod neuroacanthocytosis syndrome -MONDO:0018946 MONDO:equivalentTo Orphanet:59315 rhombencephalosynapsis Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhombencephalosynapsis -MONDO:0018947 MONDO:equivalentTo Orphanet:595 centronuclear myopathy Centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centronuclear myopathy -MONDO:0018948 MONDO:equivalentTo Orphanet:598 multiminicore myopathy Multiminicore myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiminicore myopathy -MONDO:0018949 MONDO:equivalentTo Orphanet:599 distal myopathy Distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy -MONDO:0018950 MONDO:equivalentTo Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylcrotonyl-coa carboxylase deficiency -MONDO:0018952 MONDO:equivalentTo Orphanet:60014 argyria Argyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argyria -MONDO:0018954 MONDO:equivalentTo Orphanet:60030 Loeys-Dietz syndrome Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeys-dietz syndrome -MONDO:0018955 MONDO:equivalentTo Orphanet:60032 recurrent respiratory papillomatosis Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent respiratory papillomatosis -MONDO:0018956 MONDO:equivalentTo Orphanet:60033 idiopathic bronchiectasis Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic bronchiectasis -MONDO:0018957 MONDO:equivalentTo Orphanet:60039 pudendal neuralgia Pudendal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pudendal neuralgia -MONDO:0018958 MONDO:equivalentTo Orphanet:607 nemaline myopathy Nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy -MONDO:0018959 MONDO:equivalentTo Orphanet:612 potassium-aggravated myotonia Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label potassium-aggravated myotonia -MONDO:0018960 MONDO:equivalentTo Orphanet:617 congenital primary megaureter Congenital primary megaureter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter -MONDO:0018961 MONDO:equivalentTo Orphanet:618 familial melanoma Familial melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial melanoma -MONDO:0018963 MONDO:equivalentTo Orphanet:621 hereditary methemoglobinemia Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary methemoglobinemia -MONDO:0018964 MONDO:equivalentTo Orphanet:622 homocystinuria without methylmalonic aciduria Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homocystinuria without methylmalonic aciduria -MONDO:0018965 MONDO:equivalentTo Orphanet:63 Alport syndrome Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alport syndrome -MONDO:0018967 MONDO:equivalentTo Orphanet:632 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia -MONDO:0018968 MONDO:equivalentTo Orphanet:63259 iniencephaly Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly -MONDO:0018969 MONDO:equivalentTo Orphanet:63260 craniorachischisis Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis -MONDO:0018974 MONDO:equivalentTo Orphanet:63455 paraneoplastic pemphigus Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic pemphigus -MONDO:0018975 MONDO:equivalentTo Orphanet:636 neurofibromatosis type 1 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis type 1 -MONDO:0018976 MONDO:equivalentTo Orphanet:63862 schisis association Schisis association semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schisis association -MONDO:0018978 MONDO:equivalentTo Orphanet:63999 IgG4-related mediastinitis IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related mediastinitis -MONDO:0018979 MONDO:equivalentTo Orphanet:641 multifocal motor neuropathy Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal motor neuropathy -MONDO:0018980 MONDO:equivalentTo Orphanet:64542 acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, kennedy-teebi type -MONDO:0018981 MONDO:equivalentTo Orphanet:64545 benign idiopathic neonatal seizures Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign idiopathic neonatal seizures -MONDO:0018982 MONDO:equivalentTo Orphanet:646 Niemann-Pick disease type C Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c -MONDO:0018983 MONDO:equivalentTo Orphanet:64686 Tolosa-Hunt syndrome Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tolosa-hunt syndrome -MONDO:0018984 MONDO:equivalentTo Orphanet:64692 Oroya fever Oroya fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oroya fever -MONDO:0018987 MONDO:equivalentTo Orphanet:64722 granulomatous mastitis Granulomatous mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous mastitis -MONDO:0018988 MONDO:equivalentTo Orphanet:64734 iridocorneal endothelial syndrome Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocorneal endothelial syndrome -MONDO:0018991 MONDO:equivalentTo Orphanet:64743 hepatoportal sclerosis Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoportal sclerosis -MONDO:0018992 MONDO:equivalentTo Orphanet:64744 IgG4-related thyroid disease IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related thyroid disease -MONDO:0018995 MONDO:equivalentTo Orphanet:64749 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4 -MONDO:0018997 MONDO:equivalentTo Orphanet:648 Noonan syndrome Noonan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome -MONDO:0018998 MONDO:equivalentTo Orphanet:65 Leber congenital amaurosis Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis -MONDO:0018999 MONDO:equivalentTo Orphanet:650 LCAT deficiency LCAT deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lcat deficiency -MONDO:0019000 MONDO:equivalentTo Orphanet:65250 perineural cyst Perineural cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst -MONDO:0019002 MONDO:equivalentTo Orphanet:65285 Lhermitte-Duclos disease Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lhermitte-duclos disease -MONDO:0019003 MONDO:equivalentTo Orphanet:653 multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2 -MONDO:0019005 MONDO:equivalentTo Orphanet:655 nephronophthisis Nephronophthisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephronophthisis -MONDO:0019007 MONDO:equivalentTo Orphanet:65681 vaginal atresia Vaginal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal atresia -MONDO:0019008 MONDO:equivalentTo Orphanet:65682 benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis -MONDO:0019009 MONDO:equivalentTo Orphanet:65683 isolated focal cortical dysplasia Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia -MONDO:0019010 MONDO:equivalentTo Orphanet:657 congenital isolated hyperinsulinism Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated hyperinsulinism -MONDO:0019011 MONDO:equivalentTo Orphanet:65753 Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1 -MONDO:0019012 MONDO:equivalentTo Orphanet:65759 Carpenter syndrome Carpenter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpenter syndrome -MONDO:0019013 MONDO:equivalentTo Orphanet:658 non-histaminic angioedema Non-histaminic angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-histaminic angioedema -MONDO:0019015 MONDO:equivalentTo Orphanet:660 omphalocele Omphalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele -MONDO:0019017 MONDO:equivalentTo Orphanet:66518 short fifth metacarpals-insulin resistance syndrome Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short fifth metacarpals-insulin resistance syndrome -MONDO:0019018 MONDO:equivalentTo Orphanet:66529 Tako-tsubo cardiomyopathy Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tako-tsubo cardiomyopathy -MONDO:0019019 MONDO:equivalentTo Orphanet:666 osteogenesis imperfecta Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta -MONDO:0019020 MONDO:equivalentTo Orphanet:66624 PANDAS PANDAS semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pandas -MONDO:0019022 MONDO:equivalentTo Orphanet:66633 sensorineural hearing loss-early graying-essential tremor syndrome Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sensorineural hearing loss-early graying-essential tremor syndrome -MONDO:0019023 MONDO:equivalentTo Orphanet:66646 cutaneous mastocytosis Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytosis -MONDO:0019024 MONDO:equivalentTo Orphanet:66661 mast cell sarcoma Mast cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell sarcoma -MONDO:0019025 MONDO:equivalentTo Orphanet:66662 extracutaneous mastocytoma Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extracutaneous mastocytoma -MONDO:0019028 MONDO:equivalentTo Orphanet:67 amoebiasis due to Entamoeba histolytica Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amoebiasis due to entamoeba histolytica -MONDO:0019029 MONDO:equivalentTo Orphanet:67039 segmental odontomaxillary dysplasia Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental odontomaxillary dysplasia -MONDO:0019031 MONDO:equivalentTo Orphanet:67044 thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia with congenital dyserythropoietic anemia -MONDO:0019032 MONDO:equivalentTo Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability with isolated growth hormone deficiency -MONDO:0019033 MONDO:equivalentTo Orphanet:671 primary cutis verticis gyrata Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutis verticis gyrata -MONDO:0019034 MONDO:equivalentTo Orphanet:674 accessory pancreas Accessory pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label accessory pancreas -MONDO:0019035 MONDO:equivalentTo Orphanet:677 pancreatoblastoma Pancreatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatoblastoma -MONDO:0019036 MONDO:equivalentTo Orphanet:68 amoebiasis due to free-living amoebae Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amoebiasis due to free-living amoebae -MONDO:0019037 MONDO:equivalentTo Orphanet:683 progressive supranuclear palsy Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy -MONDO:0019042 MONDO:equivalentTo Orphanet:68341 multiple congenital anomalies/dysmorphic syndrome Multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome -MONDO:0019046 MONDO:equivalentTo Orphanet:68356 leukodystrophy Leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukodystrophy -MONDO:0019053 MONDO:equivalentTo Orphanet:68373 peroxisomal disease Peroxisomal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal disease -MONDO:0019054 MONDO:equivalentTo Orphanet:68378 congenital limb malformation Congenital limb malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital limb malformation -MONDO:0019056 MONDO:equivalentTo Orphanet:68381 neuromuscular disease Neuromuscular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromuscular disease -MONDO:0019064 MONDO:equivalentTo Orphanet:685 hereditary spastic paraplegia Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia -MONDO:0019065 MONDO:equivalentTo Orphanet:69 amyloidosis Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis -MONDO:0019067 MONDO:equivalentTo Orphanet:69061 idiopathic steroid-sensitive nephrotic syndrome Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-sensitive nephrotic syndrome -MONDO:0019071 MONDO:equivalentTo Orphanet:69084 pure hair and nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure hair and nail ectodermal dysplasia -MONDO:0019073 MONDO:equivalentTo Orphanet:69735 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome -MONDO:0019074 MONDO:equivalentTo Orphanet:69736 bilateral acute depigmentation of the iris Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral acute depigmentation of the iris -MONDO:0019075 MONDO:equivalentTo Orphanet:69737 Bosley-Salih-Alorainy syndrome Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bosley-salih-alorainy syndrome -MONDO:0019076 MONDO:equivalentTo Orphanet:69744 circumscribed palmoplantar hypokeratosis Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label circumscribed palmoplantar hypokeratosis -MONDO:0019077 MONDO:equivalentTo Orphanet:69745 warty dyskeratoma Warty dyskeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warty dyskeratoma -MONDO:0019079 MONDO:equivalentTo Orphanet:70 proximal spinal muscular atrophy Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal spinal muscular atrophy -MONDO:0019080 MONDO:equivalentTo Orphanet:700 alopecia totalis Alopecia totalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia totalis -MONDO:0019082 MONDO:equivalentTo Orphanet:703 bullous pemphigoid Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid -MONDO:0019084 MONDO:equivalentTo Orphanet:70475 radiation proctitis Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis -MONDO:0019085 MONDO:equivalentTo Orphanet:70476 vernal keratoconjunctivitis Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vernal keratoconjunctivitis -MONDO:0019086 MONDO:equivalentTo Orphanet:70482 carcinoma of esophagus Carcinoma of esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of esophagus -MONDO:0019087 MONDO:equivalentTo Orphanet:70567 cholangiocarcinoma Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangiocarcinoma -MONDO:0019088 MONDO:equivalentTo Orphanet:70568 post-transplant lymphoproliferative disease Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-transplant lymphoproliferative disease -MONDO:0019091 MONDO:equivalentTo Orphanet:70589 bronchopulmonary dysplasia Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia -MONDO:0019092 MONDO:equivalentTo Orphanet:70590 infantile apnea Infantile apnea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile apnea -MONDO:0019093 MONDO:equivalentTo Orphanet:70593 immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to selective anti-polysaccharide antibody deficiency -MONDO:0019094 MONDO:equivalentTo Orphanet:70596 congenital Epstein-Barr virus infection Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital epstein-barr virus infection -MONDO:0019095 MONDO:equivalentTo Orphanet:707 plague Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague -MONDO:0019098 MONDO:equivalentTo Orphanet:71203 autoimmune thrombocytopenia Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune thrombocytopenia -MONDO:0019101 MONDO:equivalentTo Orphanet:71213 retinal capillary malformation Retinal capillary malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal capillary malformation -MONDO:0019102 MONDO:equivalentTo Orphanet:71267 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome -MONDO:0019104 MONDO:equivalentTo Orphanet:71272 Sandifer syndrome Sandifer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandifer syndrome -MONDO:0019105 MONDO:equivalentTo Orphanet:71273 renal nutcracker syndrome Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal nutcracker syndrome -MONDO:0019107 MONDO:equivalentTo Orphanet:71275 Rh deficiency syndrome Rh deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rh deficiency syndrome -MONDO:0019108 MONDO:equivalentTo Orphanet:71276 silent sinus syndrome Silent sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silent sinus syndrome -MONDO:0019109 MONDO:equivalentTo Orphanet:71279 CANOMAD syndrome CANOMAD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label canomad syndrome -MONDO:0019111 MONDO:equivalentTo Orphanet:71493 familial thrombocytosis Familial thrombocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thrombocytosis -MONDO:0019112 MONDO:equivalentTo Orphanet:71505 cancer-associated retinopathy Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cancer-associated retinopathy -MONDO:0019113 MONDO:equivalentTo Orphanet:71518 benign paroxysmal torticollis of infancy Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign paroxysmal torticollis of infancy -MONDO:0019114 MONDO:equivalentTo Orphanet:71519 psychogenic movement disorders Psychogenic movement disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psychogenic movement disorders -MONDO:0019115 MONDO:equivalentTo Orphanet:71529 obesity due to melanocortin 4 receptor deficiency Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to melanocortin 4 receptor deficiency -MONDO:0019119 MONDO:equivalentTo Orphanet:71864 muscular channelopathy Muscular channelopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular channelopathy -MONDO:0019120 MONDO:equivalentTo Orphanet:720 pili bifurcati Pili bifurcati semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili bifurcati -MONDO:0019121 MONDO:equivalentTo Orphanet:723 pneumocystosis Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis -MONDO:0019122 MONDO:equivalentTo Orphanet:724 idiopathic acute eosinophilic pneumonia Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic acute eosinophilic pneumonia -MONDO:0019123 MONDO:equivalentTo Orphanet:725 continuous spikes and waves during sleep Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label continuous spikes and waves during sleep -MONDO:0019124 MONDO:equivalentTo Orphanet:727 microscopic polyangiitis Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis -MONDO:0019125 MONDO:equivalentTo Orphanet:728 relapsing polychondritis Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis -MONDO:0019127 MONDO:equivalentTo Orphanet:732 polymyositis Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis -MONDO:0019129 MONDO:equivalentTo Orphanet:73223 global developmental delay-osteopenia-ectodermal defect syndrome Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-osteopenia-ectodermal defect syndrome -MONDO:0019131 MONDO:equivalentTo Orphanet:73230 ossification anomalies-psychomotor developmental delay syndrome Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossification anomalies-psychomotor developmental delay syndrome -MONDO:0019132 MONDO:equivalentTo Orphanet:73245 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy-dandy-walker malformation-cataracts syndrome -MONDO:0019133 MONDO:equivalentTo Orphanet:73246 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome -MONDO:0019134 MONDO:equivalentTo Orphanet:73256 central neurocytoma Central neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central neurocytoma -MONDO:0019136 MONDO:equivalentTo Orphanet:73263 Zygomycosis Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis -MONDO:0019137 MONDO:equivalentTo Orphanet:73267 non-24-hour sleep-wake syndrome Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-24-hour sleep-wake syndrome -MONDO:0019140 MONDO:equivalentTo Orphanet:73423 acute ackee fruit intoxication Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute ackee fruit intoxication -MONDO:0019141 MONDO:equivalentTo Orphanet:735 porokeratosis of Mibelli Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis of mibelli -MONDO:0019143 MONDO:equivalentTo Orphanet:74 angiostrongyliasis Angiostrongyliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiostrongyliasis -MONDO:0019147 MONDO:equivalentTo Orphanet:75110 myiasis Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis -MONDO:0019148 MONDO:equivalentTo Orphanet:75233 Wolman disease Wolman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolman disease -MONDO:0019149 MONDO:equivalentTo Orphanet:75234 cholesteryl ester storage disease Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteryl ester storage disease -MONDO:0019151 MONDO:equivalentTo Orphanet:75378 oligocone trichromacy Oligocone trichromacy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligocone trichromacy -MONDO:0019152 MONDO:equivalentTo Orphanet:75382 Oguchi disease Oguchi disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oguchi disease -MONDO:0019153 MONDO:equivalentTo Orphanet:75389 brain malformation-congenital heart disease-postaxial polydactyly syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain malformation-congenital heart disease-postaxial polydactyly syndrome -MONDO:0019154 MONDO:equivalentTo Orphanet:754 androgen insensitivity syndrome Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label androgen insensitivity syndrome -MONDO:0019155 MONDO:equivalentTo Orphanet:755 Leydig cell hypoplasia Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia -MONDO:0019156 MONDO:equivalentTo Orphanet:75508 angioosteohypotrophic syndrome Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioosteohypotrophic syndrome -MONDO:0019158 MONDO:equivalentTo Orphanet:75565 tropical endomyocardial fibrosis Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical endomyocardial fibrosis -MONDO:0019159 MONDO:equivalentTo Orphanet:75566 Loeffler endocarditis Loeffler endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeffler endocarditis -MONDO:0019160 MONDO:equivalentTo Orphanet:75567 primary progressive freezing gait Primary progressive freezing gait semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive freezing gait -MONDO:0019161 MONDO:equivalentTo Orphanet:756 pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 1 -MONDO:0019162 MONDO:equivalentTo Orphanet:757 pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2 -MONDO:0019164 MONDO:equivalentTo Orphanet:75857 6q terminal deletion syndrome 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6q terminal deletion syndrome -MONDO:0019167 MONDO:equivalentTo Orphanet:761 immunoglobulin A vasculitis Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin a vasculitis -MONDO:0019168 MONDO:equivalentTo Orphanet:764 pyomyositis Pyomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyomyositis -MONDO:0019169 MONDO:equivalentTo Orphanet:765 pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase deficiency -MONDO:0019170 MONDO:equivalentTo Orphanet:767 polyarteritis nodosa Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa -MONDO:0019171 MONDO:equivalentTo Orphanet:768 familial long QT syndrome Familial long QT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial long qt syndrome -MONDO:0019173 MONDO:equivalentTo Orphanet:770 rabies Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies -MONDO:0019175 MONDO:equivalentTo Orphanet:77240 primary lymphedema Primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary lymphedema -MONDO:0019177 MONDO:equivalentTo Orphanet:77295 odontoleukodystrophy Odontoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoleukodystrophy -MONDO:0019178 MONDO:equivalentTo Orphanet:77300 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome -MONDO:0019179 MONDO:equivalentTo Orphanet:77301 monosomy 9q22.3 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 9q22.3 -MONDO:0019180 MONDO:equivalentTo Orphanet:774 hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hemorrhagic telangiectasia -MONDO:0019186 MONDO:equivalentTo Orphanet:781 Q fever Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever -MONDO:0019187 MONDO:equivalentTo Orphanet:782 Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld-rieger syndrome -MONDO:0019188 MONDO:equivalentTo Orphanet:783 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome -MONDO:0019190 MONDO:equivalentTo Orphanet:79076 juvenile polyposis of infancy Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polyposis of infancy -MONDO:0019191 MONDO:equivalentTo Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related dacryoadenitis and sialadenitis -MONDO:0019192 MONDO:equivalentTo Orphanet:79085 AKT2-related familial partial lipodystrophy AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label akt2-related familial partial lipodystrophy -MONDO:0019193 MONDO:equivalentTo Orphanet:79086 acquired generalized lipodystrophy Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired generalized lipodystrophy -MONDO:0019194 MONDO:equivalentTo Orphanet:79088 localized lipodystrophy Localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lipodystrophy -MONDO:0019195 MONDO:equivalentTo Orphanet:79091 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome -MONDO:0019196 MONDO:equivalentTo Orphanet:79093 Foix-Alajouanine syndrome Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foix-alajouanine syndrome -MONDO:0019197 MONDO:equivalentTo Orphanet:79097 folinic acid-responsive seizures Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label folinic acid-responsive seizures -MONDO:0019198 MONDO:equivalentTo Orphanet:79098 sympathetic ophthalmia Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sympathetic ophthalmia -MONDO:0019199 MONDO:equivalentTo Orphanet:79099 interstitial granulomatous dermatitis with arthritis Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial granulomatous dermatitis with arthritis -MONDO:0019200 MONDO:equivalentTo Orphanet:791 retinitis pigmentosa Retinitis pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa -MONDO:0019201 MONDO:equivalentTo Orphanet:79102 thyrotoxic periodic paralysis Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxic periodic paralysis -MONDO:0019202 MONDO:equivalentTo Orphanet:79105 myxofibrosarcoma Myxofibrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxofibrosarcoma -MONDO:0019203 MONDO:equivalentTo Orphanet:79126 acute interstitial pneumonia Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute interstitial pneumonia -MONDO:0019204 MONDO:equivalentTo Orphanet:79127 respiratory bronchiolitis-interstitial lung disease syndrome Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory bronchiolitis-interstitial lung disease syndrome -MONDO:0019205 MONDO:equivalentTo Orphanet:79129 trichodysplasia-amelogenesis imperfecta syndrome Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodysplasia-amelogenesis imperfecta syndrome -MONDO:0019207 MONDO:equivalentTo Orphanet:79134 DEND syndrome DEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dend syndrome -MONDO:0019208 MONDO:equivalentTo Orphanet:79138 Bickerstaff brainstem encephalitis Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bickerstaff brainstem encephalitis -MONDO:0019209 MONDO:equivalentTo Orphanet:79139 Japanese encephalitis Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis -MONDO:0019210 MONDO:equivalentTo Orphanet:79140 cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous neuroendocrine carcinoma -MONDO:0019211 MONDO:equivalentTo Orphanet:79143 isolated congenital anonychia Isolated congenital anonychia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital anonychia -MONDO:0019212 MONDO:equivalentTo Orphanet:79152 disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated superficial actinic porokeratosis -MONDO:0019215 MONDO:equivalentTo Orphanet:79163 classic organic aciduria Classic organic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic organic aciduria -MONDO:0019226 MONDO:equivalentTo Orphanet:79178 glucose transport disorder Glucose transport disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucose transport disorder -MONDO:0019234 MONDO:equivalentTo Orphanet:79189 peroxisome biogenesis disorder Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder -MONDO:0019240 MONDO:equivalentTo Orphanet:79195 sterol biosynthesis disorder Sterol biosynthesis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterol biosynthesis disorder -MONDO:0019248 MONDO:equivalentTo Orphanet:79212 mucolipidosis Mucolipidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis -MONDO:0019249 MONDO:equivalentTo Orphanet:79213 mucopolysaccharidosis Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis -MONDO:0019251 MONDO:equivalentTo Orphanet:79215 oligosaccharidosis Oligosaccharidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligosaccharidosis -MONDO:0019253 MONDO:equivalentTo Orphanet:79219 metabolic disease involving other neurotransmitter deficiency Metabolic disease involving other neurotransmitter deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disease involving other neurotransmitter deficiency -MONDO:0019255 MONDO:equivalentTo Orphanet:79225 sphingolipidosis Sphingolipidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sphingolipidosis -MONDO:0019256 MONDO:equivalentTo Orphanet:79226 sterol metabolism disorder Sterol metabolism disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterol metabolism disorder -MONDO:0019258 MONDO:equivalentTo Orphanet:79253 mild phenylketonuria Mild phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild phenylketonuria -MONDO:0019259 MONDO:equivalentTo Orphanet:79254 classic phenylketonuria Classic phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic phenylketonuria -MONDO:0019260 MONDO:equivalentTo Orphanet:79262 adult neuronal ceroid lipofuscinosis Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult neuronal ceroid lipofuscinosis -MONDO:0019261 MONDO:equivalentTo Orphanet:79263 infantile neuronal ceroid lipofuscinosis Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile neuronal ceroid lipofuscinosis -MONDO:0019262 MONDO:equivalentTo Orphanet:79264 juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile neuronal ceroid lipofuscinosis -MONDO:0019263 MONDO:equivalentTo Orphanet:79278 autosomal erythropoietic protoporphyria Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal erythropoietic protoporphyria -MONDO:0019264 MONDO:equivalentTo Orphanet:79281 alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 3 -MONDO:0019265 MONDO:equivalentTo Orphanet:79298 diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism -MONDO:0019266 MONDO:equivalentTo Orphanet:793 SAPHO syndrome SAPHO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sapho syndrome -MONDO:0019267 MONDO:equivalentTo Orphanet:79312 vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-unresponsive methylmalonic acidemia type mut- -MONDO:0019268 MONDO:equivalentTo Orphanet:79353 epidermal disease Epidermal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermal disease -MONDO:0019269 MONDO:equivalentTo Orphanet:79354 ichthyosis Ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis -MONDO:0019270 MONDO:equivalentTo Orphanet:79355 erythrokeratoderma Erythrokeratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratoderma -MONDO:0019272 MONDO:equivalentTo Orphanet:79357 hereditary palmoplantar keratoderma Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary palmoplantar keratoderma -MONDO:0019276 MONDO:equivalentTo Orphanet:79361 inherited epidermolysis bullosa Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited epidermolysis bullosa -MONDO:0019278 MONDO:equivalentTo Orphanet:79363 hair anomaly Hair anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hair anomaly -MONDO:0019283 MONDO:equivalentTo Orphanet:79368 nail anomaly Nail anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail anomaly -MONDO:0019287 MONDO:equivalentTo Orphanet:79373 ectodermal dysplasia syndrome Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia syndrome -MONDO:0019289 MONDO:equivalentTo Orphanet:79375 hyperpigmentation of the skin Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperpigmentation of the skin -MONDO:0019290 MONDO:equivalentTo Orphanet:79376 hypopigmentation of the skin Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopigmentation of the skin -MONDO:0019293 MONDO:equivalentTo Orphanet:79379 skin vascular disease Skin vascular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin vascular disease -MONDO:0019294 MONDO:equivalentTo Orphanet:79380 mixed dermis disorder Mixed dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed dermis disorder -MONDO:0019308 MONDO:equivalentTo Orphanet:79405 junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa inversa -MONDO:0019309 MONDO:equivalentTo Orphanet:79406 late-onset junctional epidermolysis bullosa Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset junctional epidermolysis bullosa -MONDO:0019310 MONDO:equivalentTo Orphanet:79409 recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive dystrophic epidermolysis bullosa inversa -MONDO:0019312 MONDO:equivalentTo Orphanet:79430 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hermansky-pudlak syndrome -MONDO:0019314 MONDO:equivalentTo Orphanet:79455 cutaneous mastocytoma Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytoma -MONDO:0019315 MONDO:equivalentTo Orphanet:79456 diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse cutaneous mastocytosis -MONDO:0019316 MONDO:equivalentTo Orphanet:79457 maculopapular cutaneous mastocytosis Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maculopapular cutaneous mastocytosis -MONDO:0019318 MONDO:equivalentTo Orphanet:79466 inflammatory linear verrucous epidermal nevus Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory linear verrucous epidermal nevus -MONDO:0019319 MONDO:equivalentTo Orphanet:79467 verrucous nevus Verrucous nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verrucous nevus -MONDO:0019320 MONDO:equivalentTo Orphanet:79468 acanthokeratolytic verrucous nevus Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthokeratolytic verrucous nevus -MONDO:0019321 MONDO:equivalentTo Orphanet:79474 atypical Werner syndrome Atypical Werner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical werner syndrome -MONDO:0019322 MONDO:equivalentTo Orphanet:79479 pemphigus vegetans Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans -MONDO:0019323 MONDO:equivalentTo Orphanet:79480 pemphigus erythematosus Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus -MONDO:0019324 MONDO:equivalentTo Orphanet:79481 pemphigus foliaceus Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus -MONDO:0019325 MONDO:equivalentTo Orphanet:79483 phakomatosis cesioflammea Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis cesioflammea -MONDO:0019326 MONDO:equivalentTo Orphanet:79484 phakomatosis cesiomarmorata Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis cesiomarmorata -MONDO:0019327 MONDO:equivalentTo Orphanet:79485 phakomatosis spilorosea Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis spilorosea -MONDO:0019328 MONDO:equivalentTo Orphanet:79489 macrocystic lymphatic malformation Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocystic lymphatic malformation -MONDO:0019329 MONDO:equivalentTo Orphanet:79490 microcystic lymphatic malformation Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcystic lymphatic malformation -MONDO:0019330 MONDO:equivalentTo Orphanet:79492 pili gemini Pili gemini semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili gemini -MONDO:0019332 MONDO:equivalentTo Orphanet:79501 punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma type 1 -MONDO:0019333 MONDO:equivalentTo Orphanet:79643 autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyperinsulinism due to sur1 deficiency -MONDO:0019334 MONDO:equivalentTo Orphanet:79644 autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyperinsulinism due to kir6.2 deficiency -MONDO:0019335 MONDO:equivalentTo Orphanet:79651 mild hyperphenylalaninemia Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hyperphenylalaninemia -MONDO:0019336 MONDO:equivalentTo Orphanet:79665 Gardner syndrome Gardner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gardner syndrome -MONDO:0019337 MONDO:equivalentTo Orphanet:79669 autoimmune bullous skin disease Autoimmune bullous skin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune bullous skin disease -MONDO:0019338 MONDO:equivalentTo Orphanet:797 sarcoidosis Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis -MONDO:0019339 MONDO:equivalentTo Orphanet:8 47,XYY syndrome 47,XYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 47,xyy syndrome -MONDO:0019340 MONDO:equivalentTo Orphanet:801 scleroderma Scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleroderma -MONDO:0019342 MONDO:equivalentTo Orphanet:808 Seckel syndrome Seckel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seckel syndrome -MONDO:0019344 MONDO:equivalentTo Orphanet:81 antisynthetase syndrome Antisynthetase syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antisynthetase syndrome -MONDO:0019345 MONDO:equivalentTo Orphanet:810 shigellosis Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis -MONDO:0019346 MONDO:equivalentTo Orphanet:812 sialidosis type 1 Sialidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis type 1 -MONDO:0019347 MONDO:equivalentTo Orphanet:817 peeling skin syndrome Peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peeling skin syndrome -MONDO:0019349 MONDO:equivalentTo Orphanet:821 Sotos syndrome Sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome -MONDO:0019350 MONDO:equivalentTo Orphanet:822 hereditary spherocytosis Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis -MONDO:0019353 MONDO:equivalentTo Orphanet:827 Stargardt disease Stargardt disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stargardt disease -MONDO:0019354 MONDO:equivalentTo Orphanet:828 Stickler syndrome Stickler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome -MONDO:0019355 MONDO:equivalentTo Orphanet:829 adult-onset Still disease Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease -MONDO:0019356 MONDO:equivalentTo Orphanet:83001 urogenital tract malformation Urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urogenital tract malformation -MONDO:0019358 MONDO:equivalentTo Orphanet:833 encephalopathy due to sulfite oxidase deficiency Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy due to sulfite oxidase deficiency -MONDO:0019359 MONDO:equivalentTo Orphanet:83311 Rocky mountain spotted fever Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rocky mountain spotted fever -MONDO:0019360 MONDO:equivalentTo Orphanet:83312 rickettsialpox Rickettsialpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rickettsialpox -MONDO:0019364 MONDO:equivalentTo Orphanet:83316 pseudotyphus of California Pseudotyphus of California semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudotyphus of california -MONDO:0019365 MONDO:equivalentTo Orphanet:83317 scrub typhus Scrub typhus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scrub typhus -MONDO:0019366 MONDO:equivalentTo Orphanet:834 free sialic acid storage disease Free sialic acid storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label free sialic acid storage disease -MONDO:0019367 MONDO:equivalentTo Orphanet:83450 regional odontodysplasia Regional odontodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regional odontodysplasia -MONDO:0019368 MONDO:equivalentTo Orphanet:83451 florid cemento-osseous dysplasia Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label florid cemento-osseous dysplasia -MONDO:0019369 MONDO:equivalentTo Orphanet:83452 complex regional pain syndrome Complex regional pain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome -MONDO:0019370 MONDO:equivalentTo Orphanet:83453 vulvovaginal gingival syndrome Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvovaginal gingival syndrome -MONDO:0019372 MONDO:equivalentTo Orphanet:83468 solitary bone cyst Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst -MONDO:0019373 MONDO:equivalentTo Orphanet:83469 desmoplastic small round cell tumor Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic small round cell tumor -MONDO:0019374 MONDO:equivalentTo Orphanet:83472 CAMOS syndrome CAMOS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camos syndrome -MONDO:0019375 MONDO:equivalentTo Orphanet:83473 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -MONDO:0019376 MONDO:equivalentTo Orphanet:83476 West-Nile encephalitis West-Nile encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label west-nile encephalitis -MONDO:0019377 MONDO:equivalentTo Orphanet:83482 Mycoplasma encephalitis Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycoplasma encephalitis -MONDO:0019378 MONDO:equivalentTo Orphanet:83483 la Crosse encephalitis La Crosse encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label la crosse encephalitis -MONDO:0019380 MONDO:equivalentTo Orphanet:83593 western equine encephalitis Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis -MONDO:0019383 MONDO:equivalentTo Orphanet:83597 acute disseminated encephalomyelitis Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis -MONDO:0019384 MONDO:equivalentTo Orphanet:83600 encephalitis lethargica Encephalitis lethargica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalitis lethargica -MONDO:0019385 MONDO:equivalentTo Orphanet:83601 steroid-responsive encephalopathy associated with autoimmune thyroiditis Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steroid-responsive encephalopathy associated with autoimmune thyroiditis -MONDO:0019387 MONDO:equivalentTo Orphanet:83619 macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrostomia-preauricular tags-external ophthalmoplegia syndrome -MONDO:0019390 MONDO:equivalentTo Orphanet:838 Susac syndrome Susac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susac syndrome -MONDO:0019391 MONDO:equivalentTo Orphanet:84 Fanconi anemia Fanconi anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi anemia -MONDO:0019392 MONDO:equivalentTo Orphanet:840 syringocystadenoma papilliferum Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syringocystadenoma papilliferum -MONDO:0019393 MONDO:equivalentTo Orphanet:84065 idiopathic malabsorption due to bile acid synthesis defects Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic malabsorption due to bile acid synthesis defects -MONDO:0019394 MONDO:equivalentTo Orphanet:84081 Senior-Boichis syndrome Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-boichis syndrome -MONDO:0019395 MONDO:equivalentTo Orphanet:84085 Hinman syndrome Hinman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hinman syndrome -MONDO:0019396 MONDO:equivalentTo Orphanet:84087 collagen type III glomerulopathy Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label collagen type iii glomerulopathy -MONDO:0019398 MONDO:equivalentTo Orphanet:84132 desmin-related myopathy with Mallory body-like inclusions Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmin-related myopathy with mallory body-like inclusions -MONDO:0019403 MONDO:equivalentTo Orphanet:85 congenital dyserythropoietic anemia Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital dyserythropoietic anemia -MONDO:0019404 MONDO:equivalentTo Orphanet:85102 perineurioma Perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineurioma -MONDO:0019405 MONDO:equivalentTo Orphanet:85162 facial onset sensory and motor neuronopathy Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial onset sensory and motor neuronopathy -MONDO:0019406 MONDO:equivalentTo Orphanet:85168 craniofacial conodysplasia Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofacial conodysplasia -MONDO:0019407 MONDO:equivalentTo Orphanet:85172 microcephalic osteodysplastic dysplasia, Saul-Wilson type Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic dysplasia, saul-wilson type -MONDO:0019408 MONDO:equivalentTo Orphanet:85175 Astley-Kendall dysplasia Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astley-kendall dysplasia -MONDO:0019409 MONDO:equivalentTo Orphanet:85193 idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic juvenile osteoporosis -MONDO:0019411 MONDO:equivalentTo Orphanet:85197 genochondromatosis type 1 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genochondromatosis type 1 -MONDO:0019412 MONDO:equivalentTo Orphanet:85198 dysspondyloenchondromatosis Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysspondyloenchondromatosis -MONDO:0019414 MONDO:equivalentTo Orphanet:85284 BRESEK syndrome BRESEK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bresek syndrome -MONDO:0019415 MONDO:equivalentTo Orphanet:853 fetal and neonatal alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal and neonatal alloimmune thrombocytopenia -MONDO:0019416 MONDO:equivalentTo Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome -MONDO:0019418 MONDO:equivalentTo Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome -MONDO:0019419 MONDO:equivalentTo Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-macrocephaly-macroorchidism syndrome -MONDO:0019420 MONDO:equivalentTo Orphanet:85322 X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, pai type -MONDO:0019421 MONDO:equivalentTo Orphanet:85323 X-linked intellectual disability, Seemanova type X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, seemanova type -MONDO:0019422 MONDO:equivalentTo Orphanet:85325 X-linked intellectual disability, Stevenson type X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stevenson type -MONDO:0019423 MONDO:equivalentTo Orphanet:85326 X-linked intellectual disability, Stoll type X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stoll type -MONDO:0019424 MONDO:equivalentTo Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-acromegaly-hyperactivity syndrome -MONDO:0019427 MONDO:equivalentTo Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked neurodegenerative syndrome, bertini type -MONDO:0019428 MONDO:equivalentTo Orphanet:85335 fried syndrome Fried syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fried syndrome -MONDO:0019429 MONDO:equivalentTo Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked neurodegenerative syndrome, hamel type -MONDO:0019430 MONDO:equivalentTo Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-ataxia-apraxia syndrome -MONDO:0019431 MONDO:equivalentTo Orphanet:854 primitive portal vein thrombosis Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive portal vein thrombosis -MONDO:0019433 MONDO:equivalentTo Orphanet:85410 oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligoarticular juvenile idiopathic arthritis -MONDO:0019434 MONDO:equivalentTo Orphanet:85414 systemic-onset juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic-onset juvenile idiopathic arthritis -MONDO:0019435 MONDO:equivalentTo Orphanet:85435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid factor-positive polyarticular juvenile idiopathic arthritis -MONDO:0019436 MONDO:equivalentTo Orphanet:85436 psoriasis-related juvenile idiopathic arthritis Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis-related juvenile idiopathic arthritis -MONDO:0019437 MONDO:equivalentTo Orphanet:85438 enthesitis-related juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enthesitis-related juvenile idiopathic arthritis -MONDO:0019438 MONDO:equivalentTo Orphanet:85443 AL amyloidosis AL amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis -MONDO:0019439 MONDO:equivalentTo Orphanet:85445 AA amyloidosis AA amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aa amyloidosis -MONDO:0019440 MONDO:equivalentTo Orphanet:85446 wild type ABeta2M amyloidosis Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wild type abeta2m amyloidosis -MONDO:0019441 MONDO:equivalentTo Orphanet:85451 ATTRV122I amyloidosis ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attrv122i amyloidosis -MONDO:0019444 MONDO:equivalentTo Orphanet:863 trichinellosis Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis -MONDO:0019445 MONDO:equivalentTo Orphanet:864 trichofolliculoma Trichofolliculoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichofolliculoma -MONDO:0019446 MONDO:equivalentTo Orphanet:86795 localized lichen myxedematosus Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus -MONDO:0019447 MONDO:equivalentTo Orphanet:86797 atypical lichen myxedematosus Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical lichen myxedematosus -MONDO:0019448 MONDO:equivalentTo Orphanet:86814 benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign adult familial myoclonic epilepsy -MONDO:0019449 MONDO:equivalentTo Orphanet:86821 lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3-familial fetal akinesia sequence syndrome -MONDO:0019450 MONDO:equivalentTo Orphanet:86823 lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia -MONDO:0019451 MONDO:equivalentTo Orphanet:86829 chronic neutrophilic leukemia Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neutrophilic leukemia -MONDO:0019455 MONDO:equivalentTo Orphanet:86843 acute panmyelosis with myelofibrosis Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis -MONDO:0019457 MONDO:equivalentTo Orphanet:86846 therapy related acute myeloid leukemia and myelodysplastic syndrome Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label therapy related acute myeloid leukemia and myelodysplastic syndrome -MONDO:0019458 MONDO:equivalentTo Orphanet:86849 acute basophilic leukemia Acute basophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute basophilic leukemia -MONDO:0019460 MONDO:equivalentTo Orphanet:86851 acute leukemia of ambiguous lineage Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute leukemia of ambiguous lineage -MONDO:0019461 MONDO:equivalentTo Orphanet:86852 B-cell prolymphocytic leukemia B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell prolymphocytic leukemia -MONDO:0019462 MONDO:equivalentTo Orphanet:86854 splenic marginal zone lymphoma Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenic marginal zone lymphoma -MONDO:0019463 MONDO:equivalentTo Orphanet:86861 non-amyloid monoclonal immunoglobulin deposition disease Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-amyloid monoclonal immunoglobulin deposition disease -MONDO:0019464 MONDO:equivalentTo Orphanet:86864 heavy chain disease Heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heavy chain disease -MONDO:0019465 MONDO:equivalentTo Orphanet:86867 nodal marginal zone B-cell lymphoma Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodal marginal zone b-cell lymphoma -MONDO:0019466 MONDO:equivalentTo Orphanet:86869 lymphomatoid granulomatosis Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis -MONDO:0019468 MONDO:equivalentTo Orphanet:86871 T-cell prolymphocytic leukemia T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell prolymphocytic leukemia -MONDO:0019469 MONDO:equivalentTo Orphanet:86872 T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell large granular lymphocyte leukemia -MONDO:0019470 MONDO:equivalentTo Orphanet:86873 aggressive NK-cell leukemia Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive nk-cell leukemia -MONDO:0019471 MONDO:equivalentTo Orphanet:86875 adult T-cell leukemia/lymphoma Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult t-cell leukemia/lymphoma -MONDO:0019472 MONDO:equivalentTo Orphanet:86879 extranodal nasal NK/T cell lymphoma Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extranodal nasal nk/t cell lymphoma -MONDO:0019473 MONDO:equivalentTo Orphanet:86880 enteropathy-associated T-cell lymphoma Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enteropathy-associated t-cell lymphoma -MONDO:0019474 MONDO:equivalentTo Orphanet:86882 hepatosplenic T-cell lymphoma Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma -MONDO:0019475 MONDO:equivalentTo Orphanet:86884 subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma -MONDO:0019476 MONDO:equivalentTo Orphanet:86885 primary cutaneous peripheral T-cell lymphoma not otherwise specified Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous peripheral t-cell lymphoma not otherwise specified -MONDO:0019479 MONDO:equivalentTo Orphanet:86896 histiocytic sarcoma Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma -MONDO:0019480 MONDO:equivalentTo Orphanet:86897 Langerhans cell sarcoma Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langerhans cell sarcoma -MONDO:0019482 MONDO:equivalentTo Orphanet:86903 dendritic cell sarcoma not otherwise specified Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell sarcoma not otherwise specified -MONDO:0019483 MONDO:equivalentTo Orphanet:86904 methotrexate-associated lymphoproliferative disorders Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate-associated lymphoproliferative disorders -MONDO:0019484 MONDO:equivalentTo Orphanet:86906 hypothalamic hamartomas with gelastic seizures Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothalamic hamartomas with gelastic seizures -MONDO:0019485 MONDO:equivalentTo Orphanet:86908 idiopathic hemiconvulsion-hemiplegia syndrome Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hemiconvulsion-hemiplegia syndrome -MONDO:0019487 MONDO:equivalentTo Orphanet:86911 epilepsy with myoclonic absences Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy with myoclonic absences -MONDO:0019488 MONDO:equivalentTo Orphanet:86913 myoclonic epilepsy in non-progressive encephalopathies Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic epilepsy in non-progressive encephalopathies -MONDO:0019493 MONDO:equivalentTo Orphanet:874 primary adult heart tumor Primary adult heart tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary adult heart tumor -MONDO:0019494 MONDO:equivalentTo Orphanet:875 primary pediatric heart tumor Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pediatric heart tumor -MONDO:0019496 MONDO:equivalentTo Orphanet:877 neuroendocrine neoplasm Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroendocrine neoplasm -MONDO:0019498 MONDO:equivalentTo Orphanet:879 tungiasis Tungiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tungiasis -MONDO:0019499 MONDO:equivalentTo Orphanet:881 Turner syndrome Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome -MONDO:0019500 MONDO:equivalentTo Orphanet:883 extragonadal teratoma Extragonadal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma -MONDO:0019501 MONDO:equivalentTo Orphanet:886 Usher syndrome Usher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome -MONDO:0019502 MONDO:equivalentTo Orphanet:88616 autosomal recessive non-syndromic intellectual disability Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive non-syndromic intellectual disability -MONDO:0019504 MONDO:equivalentTo Orphanet:88633 superior limbic keratoconjunctivitis Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior limbic keratoconjunctivitis -MONDO:0019506 MONDO:equivalentTo Orphanet:88643 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome -MONDO:0019507 MONDO:equivalentTo Orphanet:88661 amelogenesis imperfecta Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta -MONDO:0019508 MONDO:equivalentTo Orphanet:888 van der Woude syndrome Van der Woude syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van der woude syndrome -MONDO:0019514 MONDO:equivalentTo Orphanet:890 hepatic veno-occlusive disease Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease -MONDO:0019517 MONDO:equivalentTo Orphanet:895 Waardenburg syndrome type 2 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 2 -MONDO:0019518 MONDO:equivalentTo Orphanet:897 Waardenburg-Shah syndrome Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg-shah syndrome -MONDO:0019524 MONDO:equivalentTo Orphanet:89938 Bartter syndrome type 4 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartter syndrome type 4 -MONDO:0019525 MONDO:equivalentTo Orphanet:9 tetrasomy X Tetrasomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy x -MONDO:0019526 MONDO:equivalentTo Orphanet:90000 erythema elevatum diutinum Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum -MONDO:0019527 MONDO:equivalentTo Orphanet:90002 undifferentiated connective tissue syndrome Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated connective tissue syndrome -MONDO:0019528 MONDO:equivalentTo Orphanet:90003 inflammatory pseudotumor of the liver Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory pseudotumor of the liver -MONDO:0019529 MONDO:equivalentTo Orphanet:90021 radiation myelitis Radiation myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation myelitis -MONDO:0019530 MONDO:equivalentTo Orphanet:90025 non-syndromic syndactyly Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic syndactyly -MONDO:0019531 MONDO:equivalentTo Orphanet:90030 hemolytic anemia due to glutathione reductase deficiency Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to glutathione reductase deficiency -MONDO:0019532 MONDO:equivalentTo Orphanet:90033 autoimmune hemolytic anemia, warm type Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia, warm type -MONDO:0019533 MONDO:equivalentTo Orphanet:90035 paroxysmal cold hemoglobinuria Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal cold hemoglobinuria -MONDO:0019534 MONDO:equivalentTo Orphanet:90036 mixed-type autoimmune hemolytic anemia Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed-type autoimmune hemolytic anemia -MONDO:0019535 MONDO:equivalentTo Orphanet:90037 drug-induced autoimmune hemolytic anemia Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced autoimmune hemolytic anemia -MONDO:0019536 MONDO:equivalentTo Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shiga toxin-associated hemolytic uremic syndrome -MONDO:0019537 MONDO:equivalentTo Orphanet:90039 hemoglobin D disease Hemoglobin D disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin d disease -MONDO:0019540 MONDO:equivalentTo Orphanet:90060 diffuse alveolar hemorrhage Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse alveolar hemorrhage -MONDO:0019542 MONDO:equivalentTo Orphanet:90062 acute liver failure Acute liver failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute liver failure -MONDO:0019543 MONDO:equivalentTo Orphanet:90065 acquired aneurysmal subarachnoid hemorrhage Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired aneurysmal subarachnoid hemorrhage -MONDO:0019544 MONDO:equivalentTo Orphanet:90068 cocaine intoxication Cocaine intoxication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine intoxication -MONDO:0019545 MONDO:equivalentTo Orphanet:90069 systemic monochloroacetate poisoning Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic monochloroacetate poisoning -MONDO:0019547 MONDO:equivalentTo Orphanet:901 Wells syndrome Wells syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wells syndrome -MONDO:0019548 MONDO:equivalentTo Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intermediate charcot-marie-tooth disease -MONDO:0019549 MONDO:equivalentTo Orphanet:90118 severe early-onset axonal neuropathy due to MFN2 deficiency Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset axonal neuropathy due to mfn2 deficiency -MONDO:0019550 MONDO:equivalentTo Orphanet:90119 hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy with acrodystrophy -MONDO:0019551 MONDO:equivalentTo Orphanet:90120 hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy type 6 -MONDO:0019552 MONDO:equivalentTo Orphanet:90156 centrifugal lipodystrophy Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centrifugal lipodystrophy -MONDO:0019553 MONDO:equivalentTo Orphanet:90157 drug-induced localized lipodystrophy Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced localized lipodystrophy -MONDO:0019554 MONDO:equivalentTo Orphanet:90158 idiopathic localized lipodystrophy Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic localized lipodystrophy -MONDO:0019556 MONDO:equivalentTo Orphanet:90160 pressure-induced localized lipoatrophy Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pressure-induced localized lipoatrophy -MONDO:0019557 MONDO:equivalentTo Orphanet:90280 chilblain lupus Chilblain lupus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chilblain lupus -MONDO:0019558 MONDO:equivalentTo Orphanet:90281 discoid lupus erythematosus Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus -MONDO:0019559 MONDO:equivalentTo Orphanet:90282 hypertrophic or verrucous lupus erythematosus Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic or verrucous lupus erythematosus -MONDO:0019560 MONDO:equivalentTo Orphanet:90283 lupus erythematosus tumidus Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus tumidus -MONDO:0019561 MONDO:equivalentTo Orphanet:90285 lupus erythematosus panniculitis Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus panniculitis -MONDO:0019562 MONDO:equivalentTo Orphanet:90289 localized scleroderma Localized scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma -MONDO:0019569 MONDO:equivalentTo Orphanet:90321 Cockayne syndrome type 1 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 1 -MONDO:0019570 MONDO:equivalentTo Orphanet:90322 Cockayne syndrome type 2 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 2 -MONDO:0019571 MONDO:equivalentTo Orphanet:90348 autosomal dominant cutis laxa Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cutis laxa -MONDO:0019572 MONDO:equivalentTo Orphanet:90349 autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 1 -MONDO:0019573 MONDO:equivalentTo Orphanet:90350 autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2 -MONDO:0019574 MONDO:equivalentTo Orphanet:90363 secondary intestinal lymphangiectasia Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary intestinal lymphangiectasia -MONDO:0019575 MONDO:equivalentTo Orphanet:90368 hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis simplex of the scalp -MONDO:0019576 MONDO:equivalentTo Orphanet:90389 telangiectasia macularis eruptiva perstans Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telangiectasia macularis eruptiva perstans -MONDO:0019577 MONDO:equivalentTo Orphanet:90390 anonychia-onychodystrophy syndrome Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia-onychodystrophy syndrome -MONDO:0019578 MONDO:equivalentTo Orphanet:90393 nodular lichen myxedematosus Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lichen myxedematosus -MONDO:0019579 MONDO:equivalentTo Orphanet:90394 discrete papular lichen myxedematosus Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discrete papular lichen myxedematosus -MONDO:0019580 MONDO:equivalentTo Orphanet:90395 papular mucinosis of infancy Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular mucinosis of infancy -MONDO:0019581 MONDO:equivalentTo Orphanet:90396 acral persistent papular mucinosis Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral persistent papular mucinosis -MONDO:0019582 MONDO:equivalentTo Orphanet:90397 self-healing papular mucinosis Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label self-healing papular mucinosis -MONDO:0019583 MONDO:equivalentTo Orphanet:90398 localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus with mixed features of different subtypes -MONDO:0019584 MONDO:equivalentTo Orphanet:90399 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms -MONDO:0019585 MONDO:equivalentTo Orphanet:90400 scleromyxedema without monoclonal gammopathy Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromyxedema without monoclonal gammopathy -MONDO:0019600 MONDO:equivalentTo Orphanet:910 xeroderma pigmentosum Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum -MONDO:0019604 MONDO:equivalentTo Orphanet:91136 acquired monoclonal Ig light chain-associated Fanconi syndrome Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired monoclonal ig light chain-associated fanconi syndrome -MONDO:0019605 MONDO:equivalentTo Orphanet:91137 immunotactoid or fibrillary glomerulopathy Immunotactoid or fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid or fibrillary glomerulopathy -MONDO:0019606 MONDO:equivalentTo Orphanet:91139 simple cryoglobulinemia Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simple cryoglobulinemia -MONDO:0019607 MONDO:equivalentTo Orphanet:91140 unspecified juvenile idiopathic arthritis Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unspecified juvenile idiopathic arthritis -MONDO:0019610 MONDO:equivalentTo Orphanet:913 Zollinger-Ellison syndrome Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zollinger-ellison syndrome -MONDO:0019611 MONDO:equivalentTo Orphanet:91347 TSH-secreting pituitary adenoma TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tsh-secreting pituitary adenoma -MONDO:0019612 MONDO:equivalentTo Orphanet:91348 functioning gonadotropic adenoma Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label functioning gonadotropic adenoma -MONDO:0019613 MONDO:equivalentTo Orphanet:91349 non-functioning pituitary adenoma Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-functioning pituitary adenoma -MONDO:0019615 MONDO:equivalentTo Orphanet:91351 pituitary dermoid and epidermoid cysts Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dermoid and epidermoid cysts -MONDO:0019617 MONDO:equivalentTo Orphanet:91354 pituitary deficiency due to empty sella turcica syndrome Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary deficiency due to empty sella turcica syndrome -MONDO:0019618 MONDO:equivalentTo Orphanet:91355 Sheehan syndrome Sheehan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sheehan syndrome -MONDO:0019620 MONDO:equivalentTo Orphanet:91358 congenital esophageal diverticulum Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital esophageal diverticulum -MONDO:0019621 MONDO:equivalentTo Orphanet:91359 chronic pneumonitis of infancy Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic pneumonitis of infancy -MONDO:0019622 MONDO:equivalentTo Orphanet:91364 non-specific interstitial pneumonia Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific interstitial pneumonia -MONDO:0019623 MONDO:equivalentTo Orphanet:91378 hereditary angioedema Hereditary angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema -MONDO:0019624 MONDO:equivalentTo Orphanet:91385 acquired angioedema Acquired angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema -MONDO:0019625 MONDO:equivalentTo Orphanet:91387 familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thoracic aortic aneurysm and aortic dissection -MONDO:0019626 MONDO:equivalentTo Orphanet:91397 isolated ankyloblepharon filiforme adnatum Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated ankyloblepharon filiforme adnatum -MONDO:0019627 MONDO:equivalentTo Orphanet:91416 isolated congenital alacrima Isolated congenital alacrima semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital alacrima -MONDO:0019628 MONDO:equivalentTo Orphanet:91483 Rieger anomaly Rieger anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rieger anomaly -MONDO:0019630 MONDO:equivalentTo Orphanet:91491 congenital ectropion uveae Congenital ectropion uveae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion uveae -MONDO:0019631 MONDO:equivalentTo Orphanet:91495 persistent hyperplastic primary vitreous Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous -MONDO:0019632 MONDO:equivalentTo Orphanet:91546 Lyme disease Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease -MONDO:0019633 MONDO:equivalentTo Orphanet:91547 relapsing fever Relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing fever -MONDO:0019634 MONDO:equivalentTo Orphanet:922 familial nasal acilia Familial nasal acilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial nasal acilia -MONDO:0019635 MONDO:equivalentTo Orphanet:930 idiopathic achalasia Idiopathic achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic achalasia -MONDO:0019636 MONDO:equivalentTo Orphanet:93100 renal agenesis, unilateral Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral -MONDO:0019637 MONDO:equivalentTo Orphanet:93101 renal hypoplasia Renal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia -MONDO:0019638 MONDO:equivalentTo Orphanet:93108 renal dysplasia Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia -MONDO:0019639 MONDO:equivalentTo Orphanet:93109 congenital megacalycosis Congenital megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital megacalycosis -MONDO:0019640 MONDO:equivalentTo Orphanet:93110 posterior urethral valve Posterior urethral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior urethral valve -MONDO:0019641 MONDO:equivalentTo Orphanet:93126 Pauci-immune glomerulonephritis Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis -MONDO:0019643 MONDO:equivalentTo Orphanet:93164 transient pseudohypoaldosteronism Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient pseudohypoaldosteronism -MONDO:0019644 MONDO:equivalentTo Orphanet:93172 renal dysplasia, unilateral Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia, unilateral -MONDO:0019645 MONDO:equivalentTo Orphanet:93173 renal dysplasia, bilateral Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia, bilateral -MONDO:0019646 MONDO:equivalentTo Orphanet:93176 unilateral congenital megacalycosis Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral congenital megacalycosis -MONDO:0019647 MONDO:equivalentTo Orphanet:93177 congenital bilateral megacalycosis Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral megacalycosis -MONDO:0019648 MONDO:equivalentTo Orphanet:932 achondrogenesis Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis -MONDO:0019659 MONDO:equivalentTo Orphanet:93258 Pfeiffer syndrome type 1 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 1 -MONDO:0019660 MONDO:equivalentTo Orphanet:93259 Pfeiffer syndrome type 2 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 2 -MONDO:0019661 MONDO:equivalentTo Orphanet:93260 Pfeiffer syndrome type 3 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 3 -MONDO:0019662 MONDO:equivalentTo Orphanet:93269 short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short rib-polydactyly syndrome, majewski type -MONDO:0019665 MONDO:equivalentTo Orphanet:93277 monostotic fibrous dysplasia Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monostotic fibrous dysplasia -MONDO:0019666 MONDO:equivalentTo Orphanet:93282 spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, papss2 type -MONDO:0019667 MONDO:equivalentTo Orphanet:93284 spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda -MONDO:0019668 MONDO:equivalentTo Orphanet:93292 adenoma of pancreas Adenoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenoma of pancreas -MONDO:0019669 MONDO:equivalentTo Orphanet:93297 hypochondrogenesis Hypochondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondrogenesis -MONDO:0019670 MONDO:equivalentTo Orphanet:93320 ulnar hemimelia Ulnar hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar hemimelia -MONDO:0019671 MONDO:equivalentTo Orphanet:93321 radial hemimelia Radial hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial hemimelia -MONDO:0019672 MONDO:equivalentTo Orphanet:93323 fibular hemimelia Fibular hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular hemimelia -MONDO:0019673 MONDO:equivalentTo Orphanet:93334 postaxial polydactyly type A Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly type a -MONDO:0019674 MONDO:equivalentTo Orphanet:93335 postaxial polydactyly type B Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly type b -MONDO:0019676 MONDO:equivalentTo Orphanet:93383 brachydactyly type B Brachydactyly type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b -MONDO:0019677 MONDO:equivalentTo Orphanet:93387 brachydactyly type E Brachydactyly type E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type e -MONDO:0019679 MONDO:equivalentTo Orphanet:93397 brachydactyly type A7 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a7 -MONDO:0019680 MONDO:equivalentTo Orphanet:93398 genochondromatosis type 2 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genochondromatosis type 2 -MONDO:0019681 MONDO:equivalentTo Orphanet:93399 juvenile sialidosis type 2 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile sialidosis type 2 -MONDO:0019682 MONDO:equivalentTo Orphanet:93400 congenital sialidosis type 2 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sialidosis type 2 -MONDO:0019685 MONDO:equivalentTo Orphanet:93420 FGFR3-related chondrodysplasia FGFR3-related chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fgfr3-related chondrodysplasia -MONDO:0019689 MONDO:equivalentTo Orphanet:93424 perlecan-related bone disorder Perlecan-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perlecan-related bone disorder -MONDO:0019690 MONDO:equivalentTo Orphanet:93425 filamin-related bone disorder Filamin-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filamin-related bone disorder -MONDO:0019692 MONDO:equivalentTo Orphanet:93429 multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0019693 MONDO:equivalentTo Orphanet:93430 multiple metaphyseal dysplasia Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple metaphyseal dysplasia -MONDO:0019694 MONDO:equivalentTo Orphanet:93434 spondylodysplastic dysplasia Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylodysplastic dysplasia -MONDO:0019695 MONDO:equivalentTo Orphanet:93436 acromelic dysplasia Acromelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromelic dysplasia -MONDO:0019696 MONDO:equivalentTo Orphanet:93437 acromesomelic dysplasia Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromesomelic dysplasia -MONDO:0019697 MONDO:equivalentTo Orphanet:93438 mesomelic and rhizo-mesomelic dysplasia Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic and rhizo-mesomelic dysplasia -MONDO:0019699 MONDO:equivalentTo Orphanet:93440 slender bone dysplasia Slender bone dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slender bone dysplasia -MONDO:0019701 MONDO:equivalentTo Orphanet:93442 chondrodysplasia punctata Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata -MONDO:0019702 MONDO:equivalentTo Orphanet:93443 neonatal osteosclerotic dysplasia Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal osteosclerotic dysplasia -MONDO:0019707 MONDO:equivalentTo Orphanet:93449 primary osteolysis Primary osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary osteolysis -MONDO:0019712 MONDO:equivalentTo Orphanet:93455 patellar dysostosis Patellar dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar dysostosis -MONDO:0019713 MONDO:equivalentTo Orphanet:93457 non-syndromic limb reduction defect Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic limb reduction defect -MONDO:0019714 MONDO:equivalentTo Orphanet:93458 non-syndromic polydactyly, syndactyly and/or hyperphalangy Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic polydactyly, syndactyly and/or hyperphalangy -MONDO:0019716 MONDO:equivalentTo Orphanet:93460 overgrowth syndrome Overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth syndrome -MONDO:0019718 MONDO:equivalentTo Orphanet:93465 lethal chondrodysplasia Lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal chondrodysplasia -MONDO:0019725 MONDO:equivalentTo Orphanet:93552 pediatric systemic lupus erythematosus Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric systemic lupus erythematosus -MONDO:0019727 MONDO:equivalentTo Orphanet:93555 mixed cryoglobulinemia type III Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed cryoglobulinemia type iii -MONDO:0019728 MONDO:equivalentTo Orphanet:93556 heavy chain deposition disease Heavy chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heavy chain deposition disease -MONDO:0019729 MONDO:equivalentTo Orphanet:93557 light and heavy chain deposition disease Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disease -MONDO:0019730 MONDO:equivalentTo Orphanet:93558 light chain deposition disease Light chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light chain deposition disease -MONDO:0019731 MONDO:equivalentTo Orphanet:93560 AApoAI amyloidosis AApoAI amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aapoai amyloidosis -MONDO:0019732 MONDO:equivalentTo Orphanet:93561 ALys amyloidosis ALys amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alys amyloidosis -MONDO:0019733 MONDO:equivalentTo Orphanet:93562 AFib amyloidosis AFib amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label afib amyloidosis -MONDO:0019734 MONDO:equivalentTo Orphanet:93568 juvenile polymyositis Juvenile polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polymyositis -MONDO:0019735 MONDO:equivalentTo Orphanet:93569 polymyalgia rheumatica Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica -MONDO:0019736 MONDO:equivalentTo Orphanet:93571 dense deposit disease Dense deposit disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dense deposit disease -MONDO:0019737 MONDO:equivalentTo Orphanet:93573 thrombotic microangiopathy Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy -MONDO:0019742 MONDO:equivalentTo Orphanet:93589 late-onset nephronophthisis Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset nephronophthisis -MONDO:0019745 MONDO:equivalentTo Orphanet:93612 cystinuria type A Cystinuria type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria type a -MONDO:0019746 MONDO:equivalentTo Orphanet:93613 cystinuria type B Cystinuria type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria type b -MONDO:0019751 MONDO:equivalentTo Orphanet:93665 autoinflammatory syndrome Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome -MONDO:0019756 MONDO:equivalentTo Orphanet:93924 lobar holoprosencephaly Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobar holoprosencephaly -MONDO:0019757 MONDO:equivalentTo Orphanet:93925 alobar holoprosencephaly Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alobar holoprosencephaly -MONDO:0019761 MONDO:equivalentTo Orphanet:93938 laryngotracheoesophageal cleft type 1 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 1 -MONDO:0019762 MONDO:equivalentTo Orphanet:93939 laryngotracheoesophageal cleft type 2 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 2 -MONDO:0019763 MONDO:equivalentTo Orphanet:93940 laryngotracheoesophageal cleft type 3 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 3 -MONDO:0019764 MONDO:equivalentTo Orphanet:93941 laryngotracheoesophageal cleft type 4 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 4 -MONDO:0019766 MONDO:equivalentTo Orphanet:93945 X-linked intellectual disability, Porteous type X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, porteous type -MONDO:0019767 MONDO:equivalentTo Orphanet:93946 hamel cerebro-palato-cardiac syndrome Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hamel cerebro-palato-cardiac syndrome -MONDO:0019768 MONDO:equivalentTo Orphanet:93947 X-linked intellectual disability, Golabi-Ito-hall type X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, golabi-ito-hall type -MONDO:0019769 MONDO:equivalentTo Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, sutherland-haan type -MONDO:0019771 MONDO:equivalentTo Orphanet:93958 oromandibular dystonia Oromandibular dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular dystonia -MONDO:0019772 MONDO:equivalentTo Orphanet:93964 blepharospasm-oromandibular dystonia syndrome Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm-oromandibular dystonia syndrome -MONDO:0019780 MONDO:equivalentTo Orphanet:93976 anotia Anotia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anotia -MONDO:0019782 MONDO:equivalentTo Orphanet:94056 humero-ulnar synostosis Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis -MONDO:0019783 MONDO:equivalentTo Orphanet:94058 neovascular glaucoma Neovascular glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neovascular glaucoma -MONDO:0019784 MONDO:equivalentTo Orphanet:94063 12q14 microdeletion syndrome 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12q14 microdeletion syndrome -MONDO:0019786 MONDO:equivalentTo Orphanet:94066 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia -MONDO:0019789 MONDO:equivalentTo Orphanet:94087 cytophagic histiocytic panniculitis Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytophagic histiocytic panniculitis -MONDO:0019790 MONDO:equivalentTo Orphanet:94093 neuroleptic malignant syndrome Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroleptic malignant syndrome -MONDO:0019791 MONDO:equivalentTo Orphanet:94125 recessive mitochondrial ataxia syndrome Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive mitochondrial ataxia syndrome -MONDO:0019792 MONDO:equivalentTo Orphanet:94145 autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type i -MONDO:0019793 MONDO:equivalentTo Orphanet:94148 autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type iii -MONDO:0019794 MONDO:equivalentTo Orphanet:94149 autosomal dominant cerebellar ataxia type IV Autosomal dominant cerebellar ataxia type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type iv -MONDO:0019795 MONDO:equivalentTo Orphanet:945 acalvaria Acalvaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acalvaria -MONDO:0019797 MONDO:equivalentTo Orphanet:950 acrodysostosis Acrodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodysostosis -MONDO:0019799 MONDO:equivalentTo Orphanet:95159 hepatoerythropoietic porphyria Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoerythropoietic porphyria -MONDO:0019801 MONDO:equivalentTo Orphanet:95409 acute adrenal insufficiency Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute adrenal insufficiency -MONDO:0019802 MONDO:equivalentTo Orphanet:95427 secondary short bowel syndrome Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary short bowel syndrome -MONDO:0019803 MONDO:equivalentTo Orphanet:95429 angioma serpiginosum Angioma serpiginosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioma serpiginosum -MONDO:0019805 MONDO:equivalentTo Orphanet:95431 twin to twin transfusion syndrome Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin to twin transfusion syndrome -MONDO:0019806 MONDO:equivalentTo Orphanet:95432 primary progressive aphasia Primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia -MONDO:0019807 MONDO:equivalentTo Orphanet:95443 mesocardia Mesocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesocardia -MONDO:0019810 MONDO:equivalentTo Orphanet:537 toxic epidermal necrolysis Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis -MONDO:0019811 MONDO:equivalentTo Orphanet:95457 tricuspid valve agenesis Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid valve agenesis -MONDO:0019813 MONDO:equivalentTo Orphanet:95459 congenital tricuspid stenosis Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis -MONDO:0019814 MONDO:equivalentTo Orphanet:95461 straddling or overriding tricuspid valve Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label straddling or overriding tricuspid valve -MONDO:0019815 MONDO:equivalentTo Orphanet:95462 accessory tricuspid valve tissue Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label accessory tricuspid valve tissue -MONDO:0019817 MONDO:equivalentTo Orphanet:95464 congenital mitral valve insufficiency and/or stenosis Congenital mitral valve insufficiency and/or stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral valve insufficiency and/or stenosis -MONDO:0019818 MONDO:equivalentTo Orphanet:95465 cleft mitral valve Cleft mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft mitral valve -MONDO:0019819 MONDO:equivalentTo Orphanet:95474 double-orifice mitral valve Double-orifice mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double-orifice mitral valve -MONDO:0019820 MONDO:equivalentTo Orphanet:95483 univentricular cardiopathy Univentricular cardiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label univentricular cardiopathy -MONDO:0019823 MONDO:equivalentTo Orphanet:95486 premature closure of the arterial duct Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature closure of the arterial duct -MONDO:0019824 MONDO:equivalentTo Orphanet:95488 non-acquired pituitary hormone deficiency Non-acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-acquired pituitary hormone deficiency -MONDO:0019825 MONDO:equivalentTo Orphanet:95491 congenital coronary artery aneurysm Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital coronary artery aneurysm -MONDO:0019828 MONDO:equivalentTo Orphanet:95496 pituitary stalk interruption syndrome Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary stalk interruption syndrome -MONDO:0019829 MONDO:equivalentTo Orphanet:95498 congenital anomaly of superior vena cava Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of superior vena cava -MONDO:0019830 MONDO:equivalentTo Orphanet:95499 congenital anomaly of the inferior vena cava Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of the inferior vena cava -MONDO:0019832 MONDO:equivalentTo Orphanet:95502 acquired pituitary hormone deficiency Acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired pituitary hormone deficiency -MONDO:0019835 MONDO:equivalentTo Orphanet:95506 primary hypophysitis Primary hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypophysitis -MONDO:0019836 MONDO:equivalentTo Orphanet:95507 congenital anomaly of hepatic vein Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of hepatic vein -MONDO:0019838 MONDO:equivalentTo Orphanet:95512 adenohypophysitis Adenohypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenohypophysitis -MONDO:0019839 MONDO:equivalentTo Orphanet:95513 panhypophysitis Panhypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panhypophysitis -MONDO:0019846 MONDO:equivalentTo Orphanet:95626 acquired central diabetes insipidus Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired central diabetes insipidus -MONDO:0019854 MONDO:equivalentTo Orphanet:95712 thyroid ectopia Thyroid ectopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid ectopia -MONDO:0019855 MONDO:equivalentTo Orphanet:95713 athyreosis Athyreosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label athyreosis -MONDO:0019858 MONDO:equivalentTo Orphanet:95717 idiopathic congenital hypothyroidism Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic congenital hypothyroidism -MONDO:0019860 MONDO:equivalentTo Orphanet:95719 thyroid hemiagenesis Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hemiagenesis -MONDO:0019861 MONDO:equivalentTo Orphanet:95720 thyroid hypoplasia Thyroid hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hypoplasia -MONDO:0019862 MONDO:equivalentTo Orphanet:95854 levocardia Levocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label levocardia -MONDO:0019864 MONDO:equivalentTo Orphanet:96055 tetrasomy 21 Tetrasomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 21 -MONDO:0019865 MONDO:equivalentTo Orphanet:96059 mosaic trisomy 4 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 4 -MONDO:0019866 MONDO:equivalentTo Orphanet:96060 mosaic trisomy 5 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 5 -MONDO:0019867 MONDO:equivalentTo Orphanet:96061 mosaic trisomy 8 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 8 -MONDO:0019868 MONDO:equivalentTo Orphanet:96063 mosaic trisomy 10 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 10 -MONDO:0019869 MONDO:equivalentTo Orphanet:96068 mosaic trisomy 22 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 22 -MONDO:0019873 MONDO:equivalentTo Orphanet:96072 4p16.3 microduplication syndrome 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 4p16.3 microduplication syndrome -MONDO:0019875 MONDO:equivalentTo Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 microduplication -MONDO:0019876 MONDO:equivalentTo Orphanet:96092 8p inverted duplication/deletion syndrome 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p inverted duplication/deletion syndrome -MONDO:0019878 MONDO:equivalentTo Orphanet:96095 3q26 microduplication syndrome 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q26 microduplication syndrome -MONDO:0019891 MONDO:equivalentTo Orphanet:96123 monosomy 22 Monosomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 22 -MONDO:0019896 MONDO:equivalentTo Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome due to 9q34 microdeletion -MONDO:0019902 MONDO:equivalentTo Orphanet:96168 monosomy 13q34 Monosomy 13q34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 13q34 -MONDO:0019910 MONDO:equivalentTo Orphanet:96179 maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 2 -MONDO:0019911 MONDO:equivalentTo Orphanet:96180 maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 4 -MONDO:0019912 MONDO:equivalentTo Orphanet:96181 maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 6 -MONDO:0019913 MONDO:equivalentTo Orphanet:96182 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to maternal uniparental disomy of chromosome 7 -MONDO:0019914 MONDO:equivalentTo Orphanet:96183 maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 9 -MONDO:0019916 MONDO:equivalentTo Orphanet:96185 maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 16 -MONDO:0019917 MONDO:equivalentTo Orphanet:96186 maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 20 -MONDO:0019918 MONDO:equivalentTo Orphanet:96187 maternal uniparental disomy of chromosome 21 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 21 -MONDO:0019919 MONDO:equivalentTo Orphanet:96188 maternal uniparental disomy of chromosome 22 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 22 -MONDO:0019920 MONDO:equivalentTo Orphanet:96190 paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 5 -MONDO:0019921 MONDO:equivalentTo Orphanet:96191 paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 6 -MONDO:0019922 MONDO:equivalentTo Orphanet:96192 paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 7 -MONDO:0019923 MONDO:equivalentTo Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 -MONDO:0019924 MONDO:equivalentTo Orphanet:96194 paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 20 -MONDO:0019925 MONDO:equivalentTo Orphanet:96195 paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 21 -MONDO:0019926 MONDO:equivalentTo Orphanet:96201 X small rings X small rings semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x small rings -MONDO:0019928 MONDO:equivalentTo Orphanet:96263 48,XXXY syndrome 48,XXXY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xxxy syndrome -MONDO:0019929 MONDO:equivalentTo Orphanet:96264 49,XXXXY syndrome 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome -MONDO:0019930 MONDO:equivalentTo Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia due to complete lh resistance -MONDO:0019931 MONDO:equivalentTo Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia due to partial lh resistance -MONDO:0019932 MONDO:equivalentTo Orphanet:96269 isolated partial vaginal agenesis Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated partial vaginal agenesis -MONDO:0019933 MONDO:equivalentTo Orphanet:963 acromegaly Acromegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromegaly -MONDO:0019934 MONDO:equivalentTo Orphanet:96321 polyploidy Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy -MONDO:0019935 MONDO:equivalentTo Orphanet:96325 isochromosome Y Isochromosome Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosome y -MONDO:0019938 MONDO:equivalentTo Orphanet:96346 anorectal malformation Anorectal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorectal malformation -MONDO:0019941 MONDO:equivalentTo Orphanet:970 hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 2 -MONDO:0019942 MONDO:equivalentTo Orphanet:97120 distal arthrogryposis Distal arthrogryposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis -MONDO:0019943 MONDO:equivalentTo Orphanet:972 hereditary continuous muscle fiber activity Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary continuous muscle fiber activity -MONDO:0019944 MONDO:equivalentTo Orphanet:97214 Eisenmenger syndrome Eisenmenger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eisenmenger syndrome -MONDO:0019945 MONDO:equivalentTo Orphanet:97230 solar urticaria Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria -MONDO:0019948 MONDO:equivalentTo Orphanet:97239 reducing body myopathy Reducing body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reducing body myopathy -MONDO:0019949 MONDO:equivalentTo Orphanet:97240 zebra body myopathy Zebra body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zebra body myopathy -MONDO:0019950 MONDO:equivalentTo Orphanet:97242 congenital muscular dystrophy Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy -MONDO:0019951 MONDO:equivalentTo Orphanet:97244 rigid spine syndrome Rigid spine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rigid spine syndrome -MONDO:0019952 MONDO:equivalentTo Orphanet:97245 congenital myopathy Congenital myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy -MONDO:0019953 MONDO:equivalentTo Orphanet:97252 mega-cisterna magna Mega-cisterna magna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mega-cisterna magna -MONDO:0019955 MONDO:equivalentTo Orphanet:97261 GRFoma GRFoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grfoma -MONDO:0019956 MONDO:equivalentTo Orphanet:97275 encephalitis Encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalitis -MONDO:0019957 MONDO:equivalentTo Orphanet:97278 PPoma PPoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ppoma -MONDO:0019959 MONDO:equivalentTo Orphanet:97280 glucagonoma Glucagonoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucagonoma -MONDO:0019960 MONDO:equivalentTo Orphanet:97282 VIPoma VIPoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vipoma -MONDO:0019962 MONDO:equivalentTo Orphanet:97285 thyroid lymphoma Thyroid lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid lymphoma -MONDO:0019964 MONDO:equivalentTo Orphanet:97289 thymic neuroendocrine tumor Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor -MONDO:0019967 MONDO:equivalentTo Orphanet:97332 Kienbock disease Kienbock disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kienbock disease -MONDO:0019969 MONDO:equivalentTo Orphanet:97336 panner disease Panner disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panner disease -MONDO:0019970 MONDO:equivalentTo Orphanet:97337 Sinding-Larsen-Johansson disease Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinding-larsen-johansson disease -MONDO:0019971 MONDO:equivalentTo Orphanet:97338 melanoma of soft tissue Melanoma of soft tissue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma of soft tissue -MONDO:0019972 MONDO:equivalentTo Orphanet:97339 dural sinus malformation Dural sinus malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dural sinus malformation -MONDO:0019973 MONDO:equivalentTo Orphanet:97341 persistent placoid maculopathy Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent placoid maculopathy -MONDO:0019975 MONDO:equivalentTo Orphanet:97352 pellagra Pellagra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pellagra -MONDO:0019976 MONDO:equivalentTo Orphanet:97353 dementia pugilistica Dementia pugilistica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dementia pugilistica -MONDO:0019978 MONDO:equivalentTo Orphanet:97360 Robinow syndrome Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robinow syndrome -MONDO:0019979 MONDO:equivalentTo Orphanet:97361 renal hypoplasia, unilateral Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral -MONDO:0019980 MONDO:equivalentTo Orphanet:97362 renal hypoplasia, bilateral Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral -MONDO:0019981 MONDO:equivalentTo Orphanet:97363 unilateral multicystic dysplastic kidney Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral multicystic dysplastic kidney -MONDO:0019982 MONDO:equivalentTo Orphanet:97364 bilateral multicystic dysplastic kidney Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral multicystic dysplastic kidney -MONDO:0019983 MONDO:equivalentTo Orphanet:97366 multiloculated renal cyst Multiloculated renal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiloculated renal cyst -MONDO:0019984 MONDO:equivalentTo Orphanet:97367 renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis due to twin-twin transfusion -MONDO:0019985 MONDO:equivalentTo Orphanet:97368 drug-related renal tubular dysgenesis Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-related renal tubular dysgenesis -MONDO:0019988 MONDO:equivalentTo Orphanet:97563 pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis with anca -MONDO:0019989 MONDO:equivalentTo Orphanet:97564 pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis without anca -MONDO:0019990 MONDO:equivalentTo Orphanet:97566 non-amyloid fibrillary glomerulopathy Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-amyloid fibrillary glomerulopathy -MONDO:0019991 MONDO:equivalentTo Orphanet:97567 immunotactoid glomerulopathy Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy -MONDO:0019992 MONDO:equivalentTo Orphanet:97593 pseudohypoparathyroidism Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism -MONDO:0019993 MONDO:equivalentTo Orphanet:97598 congenital renal artery stenosis Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis -MONDO:0019994 MONDO:equivalentTo Orphanet:97678 maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 13 -MONDO:0019998 MONDO:equivalentTo Orphanet:97944 gastroduodenal malformation Gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroduodenal malformation -MONDO:0019999 MONDO:equivalentTo Orphanet:97945 intestinal malformation Intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal malformation -MONDO:0020001 MONDO:equivalentTo Orphanet:97957 respiratory or thoracic malformation Respiratory or thoracic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory or thoracic malformation -MONDO:0020007 MONDO:equivalentTo Orphanet:980 absence of the pulmonary artery Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of the pulmonary artery -MONDO:0020018 MONDO:equivalentTo Orphanet:98038 cranial malformation Cranial malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranial malformation -MONDO:0020019 MONDO:equivalentTo Orphanet:98039 digestive tract malformation Digestive tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive tract malformation -MONDO:0020020 MONDO:equivalentTo Orphanet:98041 visceral malformation of the liver, biliary tract, pancreas or spleen Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0020022 MONDO:equivalentTo Orphanet:98044 central nervous system malformation Central nervous system malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system malformation -MONDO:0020023 MONDO:equivalentTo Orphanet:98045 respiratory or mediastinal malformation Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory or mediastinal malformation -MONDO:0020043 MONDO:equivalentTo Orphanet:98095 autosomal recessive congenital cerebellar ataxia Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive congenital cerebellar ataxia -MONDO:0020044 MONDO:equivalentTo Orphanet:98096 autosomal recessive metabolic cerebellar ataxia Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive metabolic cerebellar ataxia -MONDO:0020046 MONDO:equivalentTo Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia Autosomal recessive degenerative and progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive degenerative and progressive cerebellar ataxia -MONDO:0020047 MONDO:equivalentTo Orphanet:98099 autosomal recessive syndromic cerebellar ataxia Autosomal recessive syndromic cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive syndromic cerebellar ataxia -MONDO:0020049 MONDO:equivalentTo Orphanet:98127 autosomal anomaly Autosomal anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal anomaly -MONDO:0020064 MONDO:equivalentTo Orphanet:982 pulmonary valve agenesis Pulmonary valve agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve agenesis -MONDO:0020065 MONDO:equivalentTo Orphanet:98203 combined dystonia Combined dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined dystonia -MONDO:0020066 MONDO:equivalentTo Orphanet:98249 Ehlers-Danlos syndrome Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome -MONDO:0020067 MONDO:equivalentTo Orphanet:98252 infectious encephalitis Infectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious encephalitis -MONDO:0020070 MONDO:equivalentTo Orphanet:98257 neonatal epilepsy syndrome Neonatal epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal epilepsy syndrome -MONDO:0020071 MONDO:equivalentTo Orphanet:98258 infantile epilepsy syndrome Infantile epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile epilepsy syndrome -MONDO:0020072 MONDO:equivalentTo Orphanet:98259 childhood-onset epilepsy syndrome Childhood-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset epilepsy syndrome -MONDO:0020073 MONDO:equivalentTo Orphanet:98260 adolescent-onset epilepsy syndrome Adolescent-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adolescent-onset epilepsy syndrome -MONDO:0020076 MONDO:equivalentTo Orphanet:98274 myeloproliferative neoplasm Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloproliferative neoplasm -MONDO:0020077 MONDO:equivalentTo Orphanet:98275 myelodysplastic/myeloproliferative disease Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelodysplastic/myeloproliferative disease -MONDO:0020082 MONDO:equivalentTo Orphanet:98289 dendritic cell tumor Dendritic cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell tumor -MONDO:0020083 MONDO:equivalentTo Orphanet:98290 immunodeficiency-associated lymphoproliferative disease Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency-associated lymphoproliferative disease -MONDO:0020088 MONDO:equivalentTo Orphanet:98306 familial partial lipodystrophy Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial lipodystrophy -MONDO:0020089 MONDO:equivalentTo Orphanet:98307 acquired lipodystrophy Acquired lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired lipodystrophy -MONDO:0020102 MONDO:equivalentTo Orphanet:98365 hereditary stomatocytosis Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary stomatocytosis -MONDO:0020108 MONDO:equivalentTo Orphanet:98375 autoimmune hemolytic anemia Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia -MONDO:0020110 MONDO:equivalentTo Orphanet:984 pulmonary agenesis Pulmonary agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary agenesis -MONDO:0020112 MONDO:equivalentTo Orphanet:98415 vitamin B12- and folate-independent constitutional megaloblastic anemia Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12- and folate-independent constitutional megaloblastic anemia -MONDO:0020113 MONDO:equivalentTo Orphanet:98421 primary acquired red cell aplasia Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary acquired red cell aplasia -MONDO:0020115 MONDO:equivalentTo Orphanet:98428 secondary polycythemia Secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polycythemia -MONDO:0020117 MONDO:equivalentTo Orphanet:98455 alpha granule disease Alpha granule disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha granule disease -MONDO:0020121 MONDO:equivalentTo Orphanet:98473 muscular dystrophy Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy -MONDO:0020123 MONDO:equivalentTo Orphanet:98486 metabolic myopathy Metabolic myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic myopathy -MONDO:0020124 MONDO:equivalentTo Orphanet:98491 neuromuscular junction disease Neuromuscular junction disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromuscular junction disease -MONDO:0020129 MONDO:equivalentTo Orphanet:98506 acquired motor neuron disease Acquired motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired motor neuron disease -MONDO:0020143 MONDO:equivalentTo Orphanet:98544 cerebral lipidosis with dementia Cerebral lipidosis with dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral lipidosis with dementia -MONDO:0020153 MONDO:equivalentTo Orphanet:98562 cryptophthalmia Cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptophthalmia -MONDO:0020161 MONDO:equivalentTo Orphanet:98570 congenital ectropion Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion -MONDO:0020212 MONDO:equivalentTo Orphanet:98625 superficial corneal dystrophy Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial corneal dystrophy -MONDO:0020213 MONDO:equivalentTo Orphanet:98626 stromal corneal dystrophy Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stromal corneal dystrophy -MONDO:0020214 MONDO:equivalentTo Orphanet:98627 posterior corneal dystrophy Posterior corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior corneal dystrophy -MONDO:0020249 MONDO:equivalentTo Orphanet:98671 hereditary optic neuropathy Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary optic neuropathy -MONDO:0020250 MONDO:equivalentTo Orphanet:98672 autosomal dominant optic atrophy Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy -MONDO:0020283 MONDO:equivalentTo Orphanet:98715 uveitis Uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveitis -MONDO:0020289 MONDO:equivalentTo Orphanet:98721 congenital tricuspid malformation Congenital tricuspid malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid malformation -MONDO:0020291 MONDO:equivalentTo Orphanet:98723 hypoplastic right heart syndrome Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome -MONDO:0020292 MONDO:equivalentTo Orphanet:98724 congenital anomaly of the great arteries Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of the great arteries -MONDO:0020295 MONDO:equivalentTo Orphanet:98729 congenital pulmonary veins anomaly Congenital pulmonary veins anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary veins anomaly -MONDO:0020296 MONDO:equivalentTo Orphanet:98731 congenital arteriovenous fistula Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital arteriovenous fistula -MONDO:0020297 MONDO:equivalentTo Orphanet:98733 Noonan syndrome and Noonan-related syndrome Noonan syndrome and Noonan-related syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome and noonan-related syndrome -MONDO:0020298 MONDO:equivalentTo Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to maternal uniparental disomy of chromosome 15 -MONDO:0020300 MONDO:equivalentTo Orphanet:98784 autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant nocturnal frontal lobe epilepsy -MONDO:0020301 MONDO:equivalentTo Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal 15q11q13 deletion -MONDO:0020302 MONDO:equivalentTo Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to maternal 15q11q13 deletion -MONDO:0020303 MONDO:equivalentTo Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to paternal uniparental disomy of chromosome 15 -MONDO:0020304 MONDO:equivalentTo Orphanet:98797 isochromosomy Yp Isochromosomy Yp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosomy yp -MONDO:0020305 MONDO:equivalentTo Orphanet:98798 isochromosomy Yq Isochromosomy Yq semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosomy yq -MONDO:0020307 MONDO:equivalentTo Orphanet:98815 benign childhood occipital epilepsy, Panayiotopoulos type Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign childhood occipital epilepsy, panayiotopoulos type -MONDO:0020308 MONDO:equivalentTo Orphanet:98816 benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign childhood occipital epilepsy, gastaut type -MONDO:0020310 MONDO:equivalentTo Orphanet:98820 familial focal epilepsy with variable foci Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial focal epilepsy with variable foci -MONDO:0020311 MONDO:equivalentTo Orphanet:98823 chronic myelomonocytic leukemia Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelomonocytic leukemia -MONDO:0020316 MONDO:equivalentTo Orphanet:98829 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) -MONDO:0020317 MONDO:equivalentTo Orphanet:98831 acute myeloid leukemia with 11q23 abnormalities Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with 11q23 abnormalities -MONDO:0020320 MONDO:equivalentTo Orphanet:98834 acute myeloblastic leukemia with maturation Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloblastic leukemia with maturation -MONDO:0020321 MONDO:equivalentTo Orphanet:98835 acute undifferentiated leukemia Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute undifferentiated leukemia -MONDO:0020323 MONDO:equivalentTo Orphanet:98838 primary mediastinal large B-cell lymphoma Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary mediastinal large b-cell lymphoma -MONDO:0020324 MONDO:equivalentTo Orphanet:98839 intravascular large B-cell lymphoma Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma -MONDO:0020325 MONDO:equivalentTo Orphanet:98841 anaplastic large cell lymphoma Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic large cell lymphoma -MONDO:0020326 MONDO:equivalentTo Orphanet:98842 lymphomatoid papulosis Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid papulosis -MONDO:0020327 MONDO:equivalentTo Orphanet:98843 classic Hodgkin lymphoma, nodular sclerosis type Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic hodgkin lymphoma, nodular sclerosis type -MONDO:0020331 MONDO:equivalentTo Orphanet:98848 indolent systemic mastocytosis Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent systemic mastocytosis -MONDO:0020333 MONDO:equivalentTo Orphanet:98850 aggressive systemic mastocytosis Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive systemic mastocytosis -MONDO:0020334 MONDO:equivalentTo Orphanet:98851 mast cell leukemia Mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell leukemia -MONDO:0020336 MONDO:equivalentTo Orphanet:98853 autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant emery-dreifuss muscular dystrophy -MONDO:0020340 MONDO:equivalentTo Orphanet:98889 bilateral perisylvian polymicrogyria Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral perisylvian polymicrogyria -MONDO:0020341 MONDO:equivalentTo Orphanet:98892 periventricular nodular heterotopia Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periventricular nodular heterotopia -MONDO:0020347 MONDO:equivalentTo Orphanet:98916 acute inflammatory demyelinating polyradiculoneuropathy Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute inflammatory demyelinating polyradiculoneuropathy -MONDO:0020348 MONDO:equivalentTo Orphanet:98917 acute motor and sensory axonal neuropathy Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute motor and sensory axonal neuropathy -MONDO:0020349 MONDO:equivalentTo Orphanet:98918 acute motor axonal neuropathy Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute motor axonal neuropathy -MONDO:0020351 MONDO:equivalentTo Orphanet:98922 Blake pouch cyst Blake pouch cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blake pouch cyst -MONDO:0020352 MONDO:equivalentTo Orphanet:98933 multiple system atrophy, parkinsonian type Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy, parkinsonian type -MONDO:0020354 MONDO:equivalentTo Orphanet:98942 coloboma of choroid and retina Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of choroid and retina -MONDO:0020355 MONDO:equivalentTo Orphanet:98943 coloboma of eye lens Coloboma of eye lens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of eye lens -MONDO:0020356 MONDO:equivalentTo Orphanet:98944 coloboma of iris Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris -MONDO:0020357 MONDO:equivalentTo Orphanet:98946 coloboma of eyelid Coloboma of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of eyelid -MONDO:0020359 MONDO:equivalentTo Orphanet:98948 congenital symblepharon Congenital symblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital symblepharon -MONDO:0020360 MONDO:equivalentTo Orphanet:98949 complete cryptophthalmia Complete cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete cryptophthalmia -MONDO:0020361 MONDO:equivalentTo Orphanet:98950 partial cryptophthalmia Partial cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial cryptophthalmia -MONDO:0020362 MONDO:equivalentTo Orphanet:98951 inverse Marcus-Gunn phenomenon Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inverse marcus-gunn phenomenon -MONDO:0020364 MONDO:equivalentTo Orphanet:98973 posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior polymorphous corneal dystrophy -MONDO:0020365 MONDO:equivalentTo Orphanet:98975 congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hereditary endothelial dystrophy type i -MONDO:0020366 MONDO:equivalentTo Orphanet:98976 congenital glaucoma Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma -MONDO:0020368 MONDO:equivalentTo Orphanet:98978 Axenfeld anomaly Axenfeld anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld anomaly -MONDO:0020369 MONDO:equivalentTo Orphanet:98979 Chandler syndrome Chandler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chandler syndrome -MONDO:0020370 MONDO:equivalentTo Orphanet:98980 Cogan-Reese syndrome Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cogan-reese syndrome -MONDO:0020371 MONDO:equivalentTo Orphanet:98981 essential iris atrophy Essential iris atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential iris atrophy -MONDO:0020372 MONDO:equivalentTo Orphanet:98985 early-onset sutural cataract Early-onset sutural cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset sutural cataract -MONDO:0020373 MONDO:equivalentTo Orphanet:98988 early-onset anterior polar cataract Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset anterior polar cataract -MONDO:0020374 MONDO:equivalentTo Orphanet:98989 cerulean cataract Cerulean cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerulean cataract -MONDO:0020376 MONDO:equivalentTo Orphanet:98991 early-onset nuclear cataract Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset nuclear cataract -MONDO:0020377 MONDO:equivalentTo Orphanet:98992 early-onset partial cataract Early-onset partial cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset partial cataract -MONDO:0020378 MONDO:equivalentTo Orphanet:98993 early-onset posterior polar cataract Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset posterior polar cataract -MONDO:0020379 MONDO:equivalentTo Orphanet:98995 early-onset zonular cataract Early-onset zonular cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset zonular cataract -MONDO:0020380 MONDO:equivalentTo Orphanet:99 autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia -MONDO:0020382 MONDO:equivalentTo Orphanet:99003 multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal pattern dystrophy simulating fundus flavimaculatus -MONDO:0020383 MONDO:equivalentTo Orphanet:99004 fundus pulverulentus Fundus pulverulentus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fundus pulverulentus -MONDO:0020385 MONDO:equivalentTo Orphanet:99042 congenitally uncorrected transposition of the great arteries with coarctation Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally uncorrected transposition of the great arteries with coarctation -MONDO:0020386 MONDO:equivalentTo Orphanet:99043 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis -MONDO:0020387 MONDO:equivalentTo Orphanet:99045 double outlet right ventricle with subpulmonary ventricular septal defect Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subpulmonary ventricular septal defect -MONDO:0020388 MONDO:equivalentTo Orphanet:99046 double outlet right ventricle with non-committed subpulmonary ventricular septal defect Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with non-committed subpulmonary ventricular septal defect -MONDO:0020390 MONDO:equivalentTo Orphanet:99049 pulmonary artery coming from patent ductus arteriosus Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary artery coming from patent ductus arteriosus -MONDO:0020393 MONDO:equivalentTo Orphanet:99052 discrete fibromuscular subaortic stenosis Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discrete fibromuscular subaortic stenosis -MONDO:0020394 MONDO:equivalentTo Orphanet:99053 tunnel subaortic stenosis Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tunnel subaortic stenosis -MONDO:0020397 MONDO:equivalentTo Orphanet:99056 parachute tricuspid valve Parachute tricuspid valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parachute tricuspid valve -MONDO:0020398 MONDO:equivalentTo Orphanet:99057 congenital mitral stenosis Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis -MONDO:0020400 MONDO:equivalentTo Orphanet:99059 congenital supravalvular mitral ring Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital supravalvular mitral ring -MONDO:0020401 MONDO:equivalentTo Orphanet:99060 congenital unguarded mitral orifice Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital unguarded mitral orifice -MONDO:0020404 MONDO:equivalentTo Orphanet:99063 shone complex Shone complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shone complex -MONDO:0020405 MONDO:equivalentTo Orphanet:99064 straddling and/or overriding mitral valve Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label straddling and/or overriding mitral valve -MONDO:0020410 MONDO:equivalentTo Orphanet:99070 aorto-right ventricular tunnel Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-right ventricular tunnel -MONDO:0020411 MONDO:equivalentTo Orphanet:99071 aorto-left ventricular tunnel Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-left ventricular tunnel -MONDO:0020412 MONDO:equivalentTo Orphanet:99072 congenital patent ductus arteriosus aneurysm Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital patent ductus arteriosus aneurysm -MONDO:0020413 MONDO:equivalentTo Orphanet:99075 encircling double aortic arch Encircling double aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encircling double aortic arch -MONDO:0020414 MONDO:equivalentTo Orphanet:99076 persistent fifth aortic arch Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent fifth aortic arch -MONDO:0020415 MONDO:equivalentTo Orphanet:99077 Kommerell diverticulum Kommerell diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kommerell diverticulum -MONDO:0020416 MONDO:equivalentTo Orphanet:99078 Neuhauser anomaly Neuhauser anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuhauser anomaly -MONDO:0020417 MONDO:equivalentTo Orphanet:99081 right aortic arch Right aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right aortic arch -MONDO:0020418 MONDO:equivalentTo Orphanet:99082 dysphagia lusoria Dysphagia lusoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysphagia lusoria -MONDO:0020419 MONDO:equivalentTo Orphanet:99083 pulmonary artery hypoplasia Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary artery hypoplasia -MONDO:0020425 MONDO:equivalentTo Orphanet:99089 abnormal number of coronary ostia Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abnormal number of coronary ostia -MONDO:0020427 MONDO:equivalentTo Orphanet:99094 Laubry-Pezzi syndrome Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laubry-pezzi syndrome -MONDO:0020428 MONDO:equivalentTo Orphanet:99095 congenital Gerbode defect Congenital Gerbode defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital gerbode defect -MONDO:0020429 MONDO:equivalentTo Orphanet:99098 cor triatriatum dexter Cor triatriatum dexter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor triatriatum dexter -MONDO:0020430 MONDO:equivalentTo Orphanet:99099 cor triatriatum sinister Cor triatriatum sinister semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor triatriatum sinister -MONDO:0020431 MONDO:equivalentTo Orphanet:99100 juxtaposition of the atrial appendages Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juxtaposition of the atrial appendages -MONDO:0020432 MONDO:equivalentTo Orphanet:99101 ectasia of the right atrial appendage Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectasia of the right atrial appendage -MONDO:0020434 MONDO:equivalentTo Orphanet:99103 atrial septal defect, ostium secundum type Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, ostium secundum type -MONDO:0020435 MONDO:equivalentTo Orphanet:99104 atrial septal defect, coronary sinus type Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, coronary sinus type -MONDO:0020436 MONDO:equivalentTo Orphanet:99105 atrial septal defect, sinus venosus type Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, sinus venosus type -MONDO:0020437 MONDO:equivalentTo Orphanet:99106 atrial septal defect, ostium primum type Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, ostium primum type -MONDO:0020438 MONDO:equivalentTo Orphanet:99107 atrial septal aneurysm Atrial septal aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal aneurysm -MONDO:0020441 MONDO:equivalentTo Orphanet:99110 right superior vena cava connecting to left-sided atrium Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right superior vena cava connecting to left-sided atrium -MONDO:0020443 MONDO:equivalentTo Orphanet:99112 absence of innominate vein Absence of innominate vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of innominate vein -MONDO:0020444 MONDO:equivalentTo Orphanet:99113 subaortic course of innominate vein Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subaortic course of innominate vein -MONDO:0020445 MONDO:equivalentTo Orphanet:99114 agenesis of the superior vena cava Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agenesis of the superior vena cava -MONDO:0020446 MONDO:equivalentTo Orphanet:99117 coronary sinus stenosis Coronary sinus stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary sinus stenosis -MONDO:0020447 MONDO:equivalentTo Orphanet:99118 coronary sinus atresia Coronary sinus atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary sinus atresia -MONDO:0020448 MONDO:equivalentTo Orphanet:99119 right inferior vena cava connecting to left-sided atrium Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right inferior vena cava connecting to left-sided atrium -MONDO:0020449 MONDO:equivalentTo Orphanet:99120 persistent eustachian valve Persistent eustachian valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent eustachian valve -MONDO:0020450 MONDO:equivalentTo Orphanet:99121 azygos continuation of the inferior vena cava Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label azygos continuation of the inferior vena cava -MONDO:0020451 MONDO:equivalentTo Orphanet:99122 congenital stenosis of the inferior vena cava Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stenosis of the inferior vena cava -MONDO:0020453 MONDO:equivalentTo Orphanet:99124 congenital partial pulmonary venous return anomaly Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital partial pulmonary venous return anomaly -MONDO:0020454 MONDO:equivalentTo Orphanet:99129 congenital complete agenesis of pericardium Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital complete agenesis of pericardium -MONDO:0020455 MONDO:equivalentTo Orphanet:99130 congenital partial agenesis of pericardium Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital partial agenesis of pericardium -MONDO:0020456 MONDO:equivalentTo Orphanet:99131 pleuro-pericardial cyst Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuro-pericardial cyst -MONDO:0020457 MONDO:equivalentTo Orphanet:99135 6-phosphogluconate dehydrogenase deficiency 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6-phosphogluconate dehydrogenase deficiency -MONDO:0020458 MONDO:equivalentTo Orphanet:99138 hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to erythrocyte adenosine deaminase overproduction -MONDO:0020459 MONDO:equivalentTo Orphanet:99139 unstable hemoglobin disease Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unstable hemoglobin disease -MONDO:0020460 MONDO:equivalentTo Orphanet:99147 acquired von willebrand syndrome Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired von willebrand syndrome -MONDO:0020461 MONDO:equivalentTo Orphanet:99169 epiblepharon Epiblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiblepharon -MONDO:0020462 MONDO:equivalentTo Orphanet:99170 tarsal kink syndrome Tarsal kink syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal kink syndrome -MONDO:0020463 MONDO:equivalentTo Orphanet:99171 isolated congenital ectropion Isolated congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital ectropion -MONDO:0020464 MONDO:equivalentTo Orphanet:99172 euryblepharon Euryblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euryblepharon -MONDO:0020465 MONDO:equivalentTo Orphanet:99176 congenital eyelid retraction Congenital eyelid retraction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital eyelid retraction -MONDO:0020466 MONDO:equivalentTo Orphanet:99226 monosomy X Monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy x -MONDO:0020467 MONDO:equivalentTo Orphanet:99228 mosaic monosomy X Mosaic monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic monosomy x -MONDO:0020468 MONDO:equivalentTo Orphanet:99324 paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 13 -MONDO:0020469 MONDO:equivalentTo Orphanet:99329 48,XYYY syndrome 48,XYYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xyyy syndrome -MONDO:0020470 MONDO:equivalentTo Orphanet:99330 49,XYYYY syndrome 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xyyyy syndrome -MONDO:0020472 MONDO:equivalentTo Orphanet:99413 Turner syndrome due to structural X chromosome anomalies Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome due to structural x chromosome anomalies -MONDO:0020474 MONDO:equivalentTo Orphanet:99647 cheirospondyloenchondromatosis Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cheirospondyloenchondromatosis -MONDO:0020475 MONDO:equivalentTo Orphanet:99688 dermotrichic syndrome Dermotrichic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermotrichic syndrome -MONDO:0020476 MONDO:equivalentTo Orphanet:99701 mesial temporal lobe epilepsy with hippocampal sclerosis Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesial temporal lobe epilepsy with hippocampal sclerosis -MONDO:0020478 MONDO:equivalentTo Orphanet:99718 Leber plus disease Leber plus disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber plus disease -MONDO:0020479 MONDO:equivalentTo Orphanet:99725 pituitary gigantism Pituitary gigantism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary gigantism -MONDO:0020480 MONDO:equivalentTo Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency -MONDO:0020481 MONDO:equivalentTo Orphanet:99734 myotonia fluctuans Myotonia fluctuans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonia fluctuans -MONDO:0020482 MONDO:equivalentTo Orphanet:99735 myotonia permanens Myotonia permanens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonia permanens -MONDO:0020483 MONDO:equivalentTo Orphanet:99736 acetazolamide-responsive myotonia Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acetazolamide-responsive myotonia -MONDO:0020485 MONDO:equivalentTo Orphanet:99741 King-Denborough syndrome King-Denborough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label king-denborough syndrome -MONDO:0020487 MONDO:equivalentTo Orphanet:99748 Pontiac fever Pontiac fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontiac fever -MONDO:0020488 MONDO:equivalentTo Orphanet:99750 atypical progressive supranuclear palsy syndrome Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical progressive supranuclear palsy syndrome -MONDO:0020490 MONDO:equivalentTo Orphanet:99776 mosaic trisomy 9 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 9 -MONDO:0020491 MONDO:equivalentTo Orphanet:99796 subcortical band heterotopia Subcortical band heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcortical band heterotopia -MONDO:0020492 MONDO:equivalentTo Orphanet:99802 hemimegalencephaly Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly -MONDO:0020493 MONDO:equivalentTo Orphanet:99803 Haddad syndrome Haddad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haddad syndrome -MONDO:0020494 MONDO:equivalentTo Orphanet:99806 oculootodental syndrome Oculootodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculootodental syndrome -MONDO:0020495 MONDO:equivalentTo Orphanet:99807 PEHO-like syndrome PEHO-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peho-like syndrome -MONDO:0020496 MONDO:equivalentTo Orphanet:99810 familial porencephaly Familial porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial porencephaly -MONDO:0020497 MONDO:equivalentTo Orphanet:99818 Turcot syndrome with polyposis Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turcot syndrome with polyposis -MONDO:0020499 MONDO:equivalentTo Orphanet:99825 Nipah virus disease Nipah virus disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nipah virus disease -MONDO:0020500 MONDO:equivalentTo Orphanet:99826 Marburg hemorrhagic fever Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marburg hemorrhagic fever -MONDO:0020501 MONDO:equivalentTo Orphanet:99827 Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crimean-congo hemorrhagic fever -MONDO:0020502 MONDO:equivalentTo Orphanet:99829 yellow fever Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever -MONDO:0020505 MONDO:equivalentTo Orphanet:99852 ravine syndrome Ravine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ravine syndrome -MONDO:0020508 MONDO:equivalentTo Orphanet:99856 primary syringomyelia Primary syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary syringomyelia -MONDO:0020509 MONDO:equivalentTo Orphanet:99857 secondary syringomyelia Secondary syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary syringomyelia -MONDO:0020510 MONDO:equivalentTo Orphanet:99858 idiopathic syringomyelia Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic syringomyelia -MONDO:0020511 MONDO:equivalentTo Orphanet:99860 precursor B-cell acute lymphoblastic leukemia Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precursor b-cell acute lymphoblastic leukemia -MONDO:0020512 MONDO:equivalentTo Orphanet:99861 precursor T-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precursor t-cell acute lymphoblastic leukemia -MONDO:0020513 MONDO:equivalentTo Orphanet:99865 spermatocytic seminoma Spermatocytic seminoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocytic seminoma -MONDO:0020516 MONDO:equivalentTo Orphanet:99869 thymic neuroendocrine carcinoma Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma -MONDO:0020525 MONDO:equivalentTo Orphanet:99886 transient neonatal diabetes mellitus Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus -MONDO:0020526 MONDO:equivalentTo Orphanet:99887 acute megakaryoblastic leukemia in down syndrome Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia in down syndrome -MONDO:0020528 MONDO:equivalentTo Orphanet:99892 ACTH-dependent Cushing syndrome ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acth-dependent cushing syndrome -MONDO:0020530 MONDO:equivalentTo Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency -MONDO:0020532 MONDO:equivalentTo Orphanet:99903 spirillary rat-bite fever Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spirillary rat-bite fever -MONDO:0020533 MONDO:equivalentTo Orphanet:99905 streptobacillary rat-bite fever Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptobacillary rat-bite fever -MONDO:0020535 MONDO:equivalentTo Orphanet:99907 house allergic alveolitis House allergic alveolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label house allergic alveolitis -MONDO:0020539 MONDO:equivalentTo Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor Extragonadal non-dysgerminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal non-dysgerminomatous germ cell tumor -MONDO:0020543 MONDO:equivalentTo Orphanet:99917 theca steroid-producing cell malignant tumor of ovary, not further specified Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label theca steroid-producing cell malignant tumor of ovary, not further specified -MONDO:0020544 MONDO:equivalentTo Orphanet:99918 streptococcal toxic-shock syndrome Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal toxic-shock syndrome -MONDO:0020545 MONDO:equivalentTo Orphanet:99919 staphylococcal toxic-shock syndrome Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal toxic-shock syndrome -MONDO:0020546 MONDO:equivalentTo Orphanet:99920 acute graft versus host disease Acute graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute graft versus host disease -MONDO:0020547 MONDO:equivalentTo Orphanet:99921 chronic graft versus host disease Chronic graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic graft versus host disease -MONDO:0020550 MONDO:equivalentTo Orphanet:99926 gestational choriocarcinoma Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational choriocarcinoma -MONDO:0020552 MONDO:equivalentTo Orphanet:99928 placental site trophoblastic tumor Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placental site trophoblastic tumor -MONDO:0020553 MONDO:equivalentTo Orphanet:99930 secondary pulmonary hemosiderosis Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary pulmonary hemosiderosis -MONDO:0020554 MONDO:equivalentTo Orphanet:99932 Heiner syndrome Heiner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heiner syndrome -MONDO:0020555 MONDO:equivalentTo Orphanet:99933 pleuropulmonary blastoma type 1 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 1 -MONDO:0020556 MONDO:equivalentTo Orphanet:99934 pleuropulmonary blastoma type 2 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 2 -MONDO:0020557 MONDO:equivalentTo Orphanet:99935 pleuropulmonary blastoma type 3 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 3 -MONDO:0020558 MONDO:equivalentTo Orphanet:99944 autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2k -MONDO:0020559 MONDO:equivalentTo Orphanet:99965 O'Sullivan-McLeod syndrome O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label o'sullivan-mcleod syndrome -MONDO:0020560 MONDO:equivalentTo Orphanet:99966 atypical teratoid rhabdoid tumor Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical teratoid rhabdoid tumor -MONDO:0020561 MONDO:equivalentTo Orphanet:99967 myxoid/round cell liposarcoma Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxoid/round cell liposarcoma -MONDO:0020562 MONDO:equivalentTo Orphanet:99969 pleomorphic liposarcoma Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic liposarcoma -MONDO:0020563 MONDO:equivalentTo Orphanet:99970 Dedifferentiated liposarcoma Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated liposarcoma -MONDO:0020567 MONDO:equivalentTo Orphanet:99981 apnea of prematurity Apnea of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apnea of prematurity -MONDO:0020568 MONDO:equivalentTo Orphanet:99983 cutaneous myiasis Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis -MONDO:0020569 MONDO:equivalentTo Orphanet:99989 intermediate DEND syndrome Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate dend syndrome -MONDO:0020571 MONDO:equivalentTo Orphanet:99991 relapsing epidemic typhus Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing epidemic typhus -MONDO:0020572 MONDO:equivalentTo Orphanet:99994 complex regional pain syndrome type 2 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome type 2 -MONDO:0020640 MONDO:equivalentTo Orphanet:622014 autoimmune encephalitis Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis -MONDO:0020659 MONDO:equivalentTo Orphanet:598216 upper tract urothelial carcinoma Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper tract urothelial carcinoma -MONDO:0020693 MONDO:equivalentTo Orphanet:264580 glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to liver phosphorylase kinase deficiency -MONDO:0020702 MONDO:equivalentTo Orphanet:312 autosomal dominant epidermolytic ichthyosis Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epidermolytic ichthyosis -MONDO:0020743 MONDO:equivalentTo Orphanet:530995 mixed phenotype acute leukemia Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia -MONDO:0020774 MONDO:equivalentTo Orphanet:592574 Menke-Hennekam syndrome Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menke-hennekam syndrome -MONDO:0020831 MONDO:equivalentTo Orphanet:521438 congenital vertebral-cardiac-renal anomalies syndrome Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertebral-cardiac-renal anomalies syndrome -MONDO:0021019 MONDO:equivalentTo Orphanet:54 X-linked recessive ocular albinism X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked recessive ocular albinism -MONDO:0021020 MONDO:equivalentTo Orphanet:79234 Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome type 1 -MONDO:0021022 MONDO:equivalentTo Orphanet:3197 hereditary hyperekplexia Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hyperekplexia -MONDO:0021023 MONDO:equivalentTo Orphanet:99429 complete androgen insensitivity syndrome Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete androgen insensitivity syndrome -MONDO:0021054 MONDO:equivalentTo Orphanet:223727 bone sarcoma Bone sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone sarcoma -MONDO:0021060 MONDO:equivalentTo Orphanet:536391 RASopathy RASopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasopathy -MONDO:0021106 MONDO:equivalentTo Orphanet:98301 laminopathy Laminopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laminopathy -MONDO:0021107 MONDO:equivalentTo Orphanet:619284 narcolepsy Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy -MONDO:0021133 MONDO:equivalentTo Orphanet:599513 acquired factor XIII deficiency Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xiii deficiency -MONDO:0021134 MONDO:equivalentTo Orphanet:599501 acquired factor X deficiency Acquired factor X deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor x deficiency -MONDO:0021154 MONDO:equivalentTo Orphanet:79377 dermis disorder Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder -MONDO:0021176 MONDO:equivalentTo Orphanet:563581 autoimmune hepatitis type 2 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis type 2 -MONDO:0021548 MONDO:equivalentTo Orphanet:98994 total early-onset cataract Total early-onset cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label total early-onset cataract -MONDO:0022410 MONDO:equivalentTo Orphanet:156165 retinal ciliopathy Retinal ciliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal ciliopathy -MONDO:0022825 MONDO:equivalentTo Orphanet:519384 congenital cystic eye Congenital cystic eye semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cystic eye -MONDO:0022986 MONDO:equivalentTo Orphanet:617916 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -MONDO:0023880 MONDO:equivalentTo Orphanet:51636 WHIM syndrome WHIM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whim syndrome -MONDO:0024252 MONDO:equivalentTo Orphanet:488613 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome -MONDO:0024300 MONDO:equivalentTo Orphanet:437 hypophosphatemic rickets Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatemic rickets -MONDO:0024336 MONDO:equivalentTo Orphanet:494454 vulvar adenocarcinoma Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar adenocarcinoma -MONDO:0024472 MONDO:equivalentTo Orphanet:83313 boutonneuse fever Boutonneuse fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label boutonneuse fever -MONDO:0024551 MONDO:equivalentTo Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lymphoproliferative disease due to sh2d1a deficiency -MONDO:0024609 MONDO:equivalentTo Orphanet:494448 vulvar squamous cell carcinoma Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar squamous cell carcinoma -MONDO:0025193 MONDO:equivalentTo Orphanet:98897 oculopharyngodistal myopathy Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy -MONDO:0025514 MONDO:equivalentTo Orphanet:542643 livedoid vasculopathy Livedoid vasculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedoid vasculopathy -MONDO:0025667 MONDO:equivalentTo Orphanet:171673 limbal stem cell deficiency Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbal stem cell deficiency -MONDO:0025986 MONDO:equivalentTo Orphanet:2241 megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-microcolon-intestinal hypoperistalsis syndrome -MONDO:0026777 MONDO:equivalentTo Orphanet:596753 VEXAS syndrome VEXAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome -MONDO:0027749 MONDO:equivalentTo Orphanet:250805 serpinopathy Serpinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serpinopathy -MONDO:0028226 MONDO:equivalentTo Orphanet:439849 autosomal recessive severe congenital neutropenia Autosomal recessive severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia -MONDO:0030073 MONDO:equivalentTo Orphanet:631248 Mitchell syndrome Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome -MONDO:0030899 MONDO:equivalentTo Orphanet:597733 oculocutaneous albinism type 8 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 8 -MONDO:0030914 MONDO:equivalentTo Orphanet:600731 Clark-Baraitser syndrome Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clark-baraitser syndrome -MONDO:0031169 MONDO:equivalentTo Orphanet:166272 odontochondrodysplasia Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontochondrodysplasia -MONDO:0031213 MONDO:equivalentTo Orphanet:1662 restrictive dermopathy Restrictive dermopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy -MONDO:0031257 MONDO:equivalentTo Orphanet:330012 high altitude pulmonary edema High altitude pulmonary edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high altitude pulmonary edema -MONDO:0031415 MONDO:equivalentTo Orphanet:1358 Carey-Fineman-Ziter syndrome Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome -MONDO:0032653 MONDO:equivalentTo Orphanet:647811 cardiac-urogenital syndrome Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac-urogenital syndrome -MONDO:0032885 MONDO:equivalentTo Orphanet:370015 spondyloepimetaphyseal dysplasia, Isidor-Toutain type Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, isidor-toutain type -MONDO:0033672 MONDO:equivalentTo Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane anomaly-myopathy-scoliosis syndrome -MONDO:0033682 MONDO:equivalentTo Orphanet:508533 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome -MONDO:0033683 MONDO:equivalentTo Orphanet:508542 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome -MONDO:0033717 MONDO:equivalentTo Orphanet:512260 congenital cerebellar ataxia due to RNU12 mutation Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cerebellar ataxia due to rnu12 mutation -MONDO:0033809 MONDO:equivalentTo Orphanet:519390 isolated blepharochalasis Isolated blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated blepharochalasis -MONDO:0033810 MONDO:equivalentTo Orphanet:519392 isolated iridoschisis Isolated iridoschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated iridoschisis -MONDO:0033818 MONDO:equivalentTo Orphanet:519410 Terrien marginal degeneration Terrien marginal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label terrien marginal degeneration -MONDO:0033821 MONDO:equivalentTo Orphanet:519930 fungal keratitis Fungal keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal keratitis -MONDO:0033838 MONDO:equivalentTo Orphanet:521123 radiation-induced plexopathy Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation-induced plexopathy -MONDO:0033839 MONDO:equivalentTo Orphanet:521127 osteoradionecrosis of the mandible Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoradionecrosis of the mandible -MONDO:0033850 MONDO:equivalentTo Orphanet:521411 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect -MONDO:0033853 MONDO:equivalentTo Orphanet:521432 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome -MONDO:0033856 MONDO:equivalentTo Orphanet:521450 LAMA5-related multisystemic syndrome LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lama5-related multisystemic syndrome -MONDO:0033862 MONDO:equivalentTo Orphanet:522037 primary autoimmune enteropathy Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary autoimmune enteropathy -MONDO:0033864 MONDO:equivalentTo Orphanet:522077 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome -MONDO:0033925 MONDO:equivalentTo Orphanet:525731 pediatric-onset Graves disease Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric-onset graves disease -MONDO:0033926 MONDO:equivalentTo Orphanet:525738 prepubertal anorexia nervosa Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prepubertal anorexia nervosa -MONDO:0033938 MONDO:equivalentTo Orphanet:454831 acute radiation syndrome Acute radiation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute radiation syndrome -MONDO:0033946 MONDO:equivalentTo Orphanet:528623 hereditary angioedema with C1Inh deficiency Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema with c1inh deficiency -MONDO:0033948 MONDO:equivalentTo Orphanet:528663 acquired angioedema with C1Inh deficiency Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema with c1inh deficiency -MONDO:0033954 MONDO:equivalentTo Orphanet:529468 monoclonal mast cell activation syndrome Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome -MONDO:0033968 MONDO:equivalentTo Orphanet:529977 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome -MONDO:0033969 MONDO:equivalentTo Orphanet:529980 inflammatory bowel disease-recurrent sinopulmonary infections syndrome Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disease-recurrent sinopulmonary infections syndrome -MONDO:0033980 MONDO:equivalentTo Orphanet:530792 RELA fusion-positive ependymoma RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rela fusion-positive ependymoma -MONDO:0034021 MONDO:equivalentTo Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylodysplastic ehlers-danlos syndrome -MONDO:0034024 MONDO:equivalentTo Orphanet:536545 kyphoscoliotic Ehlers-Danlos syndrome Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic ehlers-danlos syndrome -MONDO:0034041 MONDO:equivalentTo Orphanet:538101 congenital axonal neuropathy with encephalopathy Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital axonal neuropathy with encephalopathy -MONDO:0034092 MONDO:equivalentTo Orphanet:543470 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome -MONDO:0034099 MONDO:equivalentTo Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syngap1-related developmental and epileptic encephalopathy -MONDO:0034103 MONDO:equivalentTo Orphanet:544482 infection-related hemolytic uremic syndrome Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infection-related hemolytic uremic syndrome -MONDO:0034109 MONDO:equivalentTo Orphanet:544602 congenital myopathy with reduced type 2 muscle fibers Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with reduced type 2 muscle fibers -MONDO:0034110 MONDO:equivalentTo Orphanet:544628 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical fanconi syndrome-neonatal hyperinsulinism syndrome -MONDO:0034121 MONDO:equivalentTo Orphanet:555402 NAD(P)HX dehydratase deficiency NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nad(p)hx dehydratase deficiency -MONDO:0034127 MONDO:equivalentTo Orphanet:555905 IgA pemphigus IgA pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iga pemphigus -MONDO:0034142 MONDO:equivalentTo Orphanet:556955 pancreatic agenesis-holoprosencephaly syndrome Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic agenesis-holoprosencephaly syndrome -MONDO:0034143 MONDO:equivalentTo Orphanet:556985 early-onset calcifying leukoencephalopathy-skeletal dysplasia Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset calcifying leukoencephalopathy-skeletal dysplasia -MONDO:0034146 MONDO:equivalentTo Orphanet:557056 spastic ataxia-dysarthria due to glutaminase deficiency Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia-dysarthria due to glutaminase deficiency -MONDO:0034150 MONDO:equivalentTo Orphanet:558411 idiopathic gastroparesis Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic gastroparesis -MONDO:0034186 MONDO:equivalentTo Orphanet:562538 autosomal recessive extra-oral halitosis Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive extra-oral halitosis -MONDO:0034189 MONDO:equivalentTo Orphanet:562639 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome -MONDO:0034204 MONDO:equivalentTo Orphanet:563708 syndromic congenital sodium diarrhea Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic congenital sodium diarrhea -MONDO:0034212 MONDO:equivalentTo Orphanet:565782 methotrexate toxicity Methotrexate toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity -MONDO:0034216 MONDO:equivalentTo Orphanet:566231 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha -MONDO:0034669 MONDO:equivalentTo Orphanet:498464 non-syndromic preaxial polydactyly Non-syndromic preaxial polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic preaxial polydactyly -MONDO:0034670 MONDO:equivalentTo Orphanet:498467 non-syndromic postaxial polydactyly Non-syndromic postaxial polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic postaxial polydactyly -MONDO:0034671 MONDO:equivalentTo Orphanet:498470 non-syndromic complex polydactyly Non-syndromic complex polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic complex polydactyly -MONDO:0034676 MONDO:equivalentTo Orphanet:498488 overgrowth syndrome with 2q37 translocation Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth syndrome with 2q37 translocation -MONDO:0034820 MONDO:equivalentTo Orphanet:508476 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome -MONDO:0034823 MONDO:equivalentTo Orphanet:508501 oral-facial-digital syndrome with short stature and brachymesophalangy Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral-facial-digital syndrome with short stature and brachymesophalangy -MONDO:0034846 MONDO:equivalentTo Orphanet:565641 primary desmosis coli Primary desmosis coli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary desmosis coli -MONDO:0034895 MONDO:equivalentTo Orphanet:514352 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome -MONDO:0034971 MONDO:equivalentTo Orphanet:519386 isolated congenital entropion Isolated congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital entropion -MONDO:0034976 MONDO:equivalentTo Orphanet:576379 iatrogenic Creutzfeldt-Jakob disease Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iatrogenic creutzfeldt-jakob disease -MONDO:0034978 MONDO:equivalentTo Orphanet:519398 isolated foveal hypoplasia Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated foveal hypoplasia -MONDO:0034987 MONDO:equivalentTo Orphanet:580572 intraductal tubulopapillary neoplasm of pancreas Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraductal tubulopapillary neoplasm of pancreas -MONDO:0034989 MONDO:equivalentTo Orphanet:508498 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-cardiac anomalies-short stature-joint laxity syndrome -MONDO:0034991 MONDO:equivalentTo Orphanet:508512 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome -MONDO:0035004 MONDO:equivalentTo Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serine biosynthesis pathway deficiency, infantile/juvenile form -MONDO:0035008 MONDO:equivalentTo Orphanet:583856 isolated splenic vein thrombosis Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated splenic vein thrombosis -MONDO:0035009 MONDO:equivalentTo Orphanet:583861 isolated mesenteric vein thrombosis Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated mesenteric vein thrombosis -MONDO:0035018 MONDO:equivalentTo Orphanet:521308 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia-bifid nose-upper limb anomalies syndrome -MONDO:0035027 MONDO:equivalentTo Orphanet:521445 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome -MONDO:0035105 MONDO:equivalentTo Orphanet:527468 diaphragmatic hernia-short bowel-asplenia syndrome Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic hernia-short bowel-asplenia syndrome -MONDO:0035117 MONDO:equivalentTo Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pum1-associated developmental disability-ataxia-seizure syndrome -MONDO:0035121 MONDO:equivalentTo Orphanet:589542 myeloid/lymphoid neoplasm associated with JAK2 rearrangement Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid/lymphoid neoplasm associated with jak2 rearrangement -MONDO:0035122 MONDO:equivalentTo Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grin2b-related developmental delay, intellectual disability and autism spectrum disorder -MONDO:0035124 MONDO:equivalentTo Orphanet:589608 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies -MONDO:0035133 MONDO:equivalentTo Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome -MONDO:0035136 MONDO:equivalentTo Orphanet:590539 isolated melanotic schwannoma Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated melanotic schwannoma -MONDO:0035149 MONDO:equivalentTo Orphanet:529864 secondary erythromelalgia Secondary erythromelalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary erythromelalgia -MONDO:0035151 MONDO:equivalentTo Orphanet:529962 17q24.2 microdeletion syndrome 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 17q24.2 microdeletion syndrome -MONDO:0035153 MONDO:equivalentTo Orphanet:529970 male infertility due to acephalic spermatozoa Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to acephalic spermatozoa -MONDO:0035159 MONDO:equivalentTo Orphanet:530033 dermoid or epidermoid cyst of the central nervous system Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermoid or epidermoid cyst of the central nervous system -MONDO:0035160 MONDO:equivalentTo Orphanet:530298 progressive myoclonic epilepsy with neuroserpin inclusion bodies Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy with neuroserpin inclusion bodies -MONDO:0035161 MONDO:equivalentTo Orphanet:530303 progressive dementia with neuroserpin inclusion bodies Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive dementia with neuroserpin inclusion bodies -MONDO:0035162 MONDO:equivalentTo Orphanet:530313 PIK3CA-related overgrowth syndrome PIK3CA-related overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pik3ca-related overgrowth syndrome -MONDO:0035173 MONDO:equivalentTo Orphanet:531151 9q21.13 microdeletion syndrome 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q21.13 microdeletion syndrome -MONDO:0035220 MONDO:equivalentTo Orphanet:537072 PLG-related hereditary angioedema with normal C1inh PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plg-related hereditary angioedema with normal c1inh -MONDO:0035235 MONDO:equivalentTo Orphanet:538863 classic pyoderma gangrenosum Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic pyoderma gangrenosum -MONDO:0035236 MONDO:equivalentTo Orphanet:538866 pustular pyoderma gangrenosum Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustular pyoderma gangrenosum -MONDO:0035237 MONDO:equivalentTo Orphanet:538869 bullous pyoderma gangrenosum Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pyoderma gangrenosum -MONDO:0035238 MONDO:equivalentTo Orphanet:538872 vegetative pyoderma gangrenosum Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vegetative pyoderma gangrenosum -MONDO:0035290 MONDO:equivalentTo Orphanet:544472 atypical hemolytic uremic syndrome with complement gene abnormality Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical hemolytic uremic syndrome with complement gene abnormality -MONDO:0035293 MONDO:equivalentTo Orphanet:544493 streptococcus pneumoniae-associated hemolytic uremic syndrome Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcus pneumoniae-associated hemolytic uremic syndrome -MONDO:0035295 MONDO:equivalentTo Orphanet:544578 congenital primary megaureter, refluxing and obstructed form Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, refluxing and obstructed form -MONDO:0035312 MONDO:equivalentTo Orphanet:555434 fibrohistiocytic inflammatory pseudotumor of the liver Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrohistiocytic inflammatory pseudotumor of the liver -MONDO:0035313 MONDO:equivalentTo Orphanet:555437 lymphoplasmacytic inflammatory pseudotumor of the liver Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoplasmacytic inflammatory pseudotumor of the liver -MONDO:0035320 MONDO:equivalentTo Orphanet:556030 early-onset familial hypoaldosteronism Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset familial hypoaldosteronism -MONDO:0035321 MONDO:equivalentTo Orphanet:556037 late-onset familial hypoaldosteronism Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset familial hypoaldosteronism -MONDO:0035337 MONDO:equivalentTo Orphanet:529574 Duane retraction syndrome with congenital deafness Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane retraction syndrome with congenital deafness -MONDO:0035344 MONDO:equivalentTo Orphanet:529799 acute bilirubin encephalopathy Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bilirubin encephalopathy -MONDO:0035345 MONDO:equivalentTo Orphanet:529808 chronic bilirubin encephalopathy Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic bilirubin encephalopathy -MONDO:0035349 MONDO:equivalentTo Orphanet:595356 localized dystrophic epidermolysis bullosa Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized dystrophic epidermolysis bullosa -MONDO:0035350 MONDO:equivalentTo Orphanet:529831 letrozole toxicity Letrozole toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label letrozole toxicity -MONDO:0035357 MONDO:equivalentTo Orphanet:596937 portosinusoidal vascular disease Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portosinusoidal vascular disease -MONDO:0035362 MONDO:equivalentTo Orphanet:597201 TRIM22-related inflammatory bowel disease TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trim22-related inflammatory bowel disease -MONDO:0035370 MONDO:equivalentTo Orphanet:597887 ALPI-related inflammatory bowel disease ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpi-related inflammatory bowel disease -MONDO:0035375 MONDO:equivalentTo Orphanet:598363 multisystem inflammatory syndrome in children and adults Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multisystem inflammatory syndrome in children and adults -MONDO:0035383 MONDO:equivalentTo Orphanet:561854 FOXG1 syndrome FOXG1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foxg1 syndrome -MONDO:0035400 MONDO:equivalentTo Orphanet:563589 seronegative autoimmune hepatitis Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seronegative autoimmune hepatitis -MONDO:0035401 MONDO:equivalentTo Orphanet:563609 isolated anencephaly Isolated anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated anencephaly -MONDO:0035402 MONDO:equivalentTo Orphanet:563612 isolated exencephaly Isolated exencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated exencephaly -MONDO:0035403 MONDO:equivalentTo Orphanet:563666 serous cystadenoma of childhood Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serous cystadenoma of childhood -MONDO:0035404 MONDO:equivalentTo Orphanet:563671 mucinous cystadenoma of childhood Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucinous cystadenoma of childhood -MONDO:0035405 MONDO:equivalentTo Orphanet:563676 seromucinous cystadenoma of childhood Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seromucinous cystadenoma of childhood -MONDO:0035406 MONDO:equivalentTo Orphanet:563684 furuncular myiasis due to Dermatobia hominis Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to dermatobia hominis -MONDO:0035407 MONDO:equivalentTo Orphanet:563687 furuncular myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to cordylobia anthropophaga -MONDO:0035408 MONDO:equivalentTo Orphanet:563690 furuncular myiasis due to Cordylobia rodhaini Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to cordylobia rodhaini -MONDO:0035410 MONDO:equivalentTo Orphanet:563951 isolated congenital aglossia Isolated congenital aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital aglossia -MONDO:0035411 MONDO:equivalentTo Orphanet:563954 isolated congenital hypoglossia Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypoglossia -MONDO:0035432 MONDO:equivalentTo Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pomgnt2-related limb-girdle muscular dystrophy r24 -MONDO:0035433 MONDO:equivalentTo Orphanet:565909 calpain-3-related limb-girdle muscular dystrophy D4 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calpain-3-related limb-girdle muscular dystrophy d4 -MONDO:0035437 MONDO:equivalentTo Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome -MONDO:0035441 MONDO:equivalentTo Orphanet:566192 congenital autosomal recessive small-platelet thrombocytopenia Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital autosomal recessive small-platelet thrombocytopenia -MONDO:0035444 MONDO:equivalentTo Orphanet:566393 acute mast cell leukemia Acute mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute mast cell leukemia -MONDO:0035445 MONDO:equivalentTo Orphanet:566396 chronic mast cell leukemia Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic mast cell leukemia -MONDO:0035447 MONDO:equivalentTo Orphanet:566841 liver adenomatosis Liver adenomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liver adenomatosis -MONDO:0035449 MONDO:equivalentTo Orphanet:566852 atelencephaly Atelencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelencephaly -MONDO:0035450 MONDO:equivalentTo Orphanet:566857 aprosencephaly Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly -MONDO:0035452 MONDO:equivalentTo Orphanet:566943 mueller-weiss syndrome Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mueller-weiss syndrome -MONDO:0035454 MONDO:equivalentTo Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome -MONDO:0035459 MONDO:equivalentTo Orphanet:567550 idiopathic multidrug-resistant nephrotic syndrome Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic multidrug-resistant nephrotic syndrome -MONDO:0035460 MONDO:equivalentTo Orphanet:567552 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy -MONDO:0035472 MONDO:equivalentTo Orphanet:568051 GJC2-related late-onset primary lymphedema GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gjc2-related late-onset primary lymphedema -MONDO:0035473 MONDO:equivalentTo Orphanet:568056 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome -MONDO:0035474 MONDO:equivalentTo Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis -MONDO:0035475 MONDO:equivalentTo Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ephb4-related lymphatic-related hydrops fetalis -MONDO:0035499 MONDO:equivalentTo Orphanet:569816 CELSR1-related late-onset primary lymphedema CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label celsr1-related late-onset primary lymphedema -MONDO:0035500 MONDO:equivalentTo Orphanet:569821 congenital primary lymphedema of Gordon Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary lymphedema of gordon -MONDO:0035511 MONDO:equivalentTo Orphanet:570470 ricin poisoning Ricin poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ricin poisoning -MONDO:0035521 MONDO:equivalentTo Orphanet:572333 blepharophimosis-ptosis-epicanthus inversus syndrome plus Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome plus -MONDO:0035524 MONDO:equivalentTo Orphanet:572354 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome type 1 -MONDO:0035525 MONDO:equivalentTo Orphanet:572361 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome type 2 -MONDO:0035529 MONDO:equivalentTo Orphanet:572428 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia -MONDO:0035534 MONDO:equivalentTo Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label donson-related microcephaly-short stature-limb abnormalities spectrum -MONDO:0035540 MONDO:equivalentTo Orphanet:573163 pheochromocytoma-paraganglioma Pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pheochromocytoma-paraganglioma -MONDO:0035547 MONDO:equivalentTo Orphanet:574918 predisposition to severe viral infection due to IRF7 deficiency Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label predisposition to severe viral infection due to irf7 deficiency -MONDO:0035548 MONDO:equivalentTo Orphanet:574957 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency -MONDO:0035551 MONDO:equivalentTo Orphanet:575553 cathepsin a-related arteriopathy-strokes-leukoencephalopathy Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cathepsin a-related arteriopathy-strokes-leukoencephalopathy -MONDO:0035562 MONDO:equivalentTo Orphanet:576360 acquired human prion disease Acquired human prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired human prion disease -MONDO:0035584 MONDO:equivalentTo Orphanet:580951 punctate inner choroidopathy Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate inner choroidopathy -MONDO:0035586 MONDO:equivalentTo Orphanet:581271 Cramp-fasciculation syndrome Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cramp-fasciculation syndrome -MONDO:0035592 MONDO:equivalentTo Orphanet:583097 congenital infiltrating lipomatosis of the face Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital infiltrating lipomatosis of the face -MONDO:0035605 MONDO:equivalentTo Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -MONDO:0035614 MONDO:equivalentTo Orphanet:586130 sporadic fatal insomnia Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic fatal insomnia -MONDO:0035639 MONDO:equivalentTo Orphanet:589534 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) -MONDO:0035642 MONDO:equivalentTo Orphanet:589595 mixed phenotype acute leukemia with t(v;11q23.3) Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia with t(v;11q23.3) -MONDO:0035646 MONDO:equivalentTo Orphanet:589821 congenital-onset Steinert myotonic dystrophy Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital-onset steinert myotonic dystrophy -MONDO:0035647 MONDO:equivalentTo Orphanet:589824 childhood-onset Steinert myotonic dystrophy Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset steinert myotonic dystrophy -MONDO:0035648 MONDO:equivalentTo Orphanet:589827 juvenile-onset Steinert myotonic dystrophy Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile-onset steinert myotonic dystrophy -MONDO:0035649 MONDO:equivalentTo Orphanet:589830 adult-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset steinert myotonic dystrophy -MONDO:0035650 MONDO:equivalentTo Orphanet:589833 late-onset Steinert myotonic dystrophy Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset steinert myotonic dystrophy -MONDO:0035651 MONDO:equivalentTo Orphanet:589856 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome -MONDO:0035660 MONDO:equivalentTo Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnao1-related developmental delay-seizures-movement disorder spectrum -MONDO:0035661 MONDO:equivalentTo Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome -MONDO:0035663 MONDO:equivalentTo Orphanet:592850 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder with anti-aqp4 antibodies -MONDO:0035664 MONDO:equivalentTo Orphanet:592856 neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder with anti-mog antibodies -MONDO:0035665 MONDO:equivalentTo Orphanet:592869 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies -MONDO:0035666 MONDO:equivalentTo Orphanet:592873 acute transverse myelitis with anti-MOG antibodies Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute transverse myelitis with anti-mog antibodies -MONDO:0035667 MONDO:equivalentTo Orphanet:592885 isolated optic neuritis without anti-MOG antibodies Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis without anti-mog antibodies -MONDO:0035668 MONDO:equivalentTo Orphanet:592888 isolated optic neuritis with anti-MOG antibodies Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis with anti-mog antibodies -MONDO:0035669 MONDO:equivalentTo Orphanet:592894 acute disseminated encephalomyelitis with anti-MOG antibodies Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis with anti-mog antibodies -MONDO:0035670 MONDO:equivalentTo Orphanet:592900 acute disseminated encephalomyelitis without anti-MOG antibodies Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis without anti-mog antibodies -MONDO:0035678 MONDO:equivalentTo Orphanet:595098 Timothy syndrome type 1 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome type 1 -MONDO:0035679 MONDO:equivalentTo Orphanet:595105 Timothy syndrome type 2 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome type 2 -MONDO:0035682 MONDO:equivalentTo Orphanet:595216 fibrous dysplasia/McCune-Albright syndrome Fibrous dysplasia/McCune-Albright syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrous dysplasia/mccune-albright syndrome -MONDO:0035689 MONDO:equivalentTo Orphanet:596426 syndrome of reduced sensitivity to thyroid hormone Syndrome of reduced sensitivity to thyroid hormone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndrome of reduced sensitivity to thyroid hormone -MONDO:0035694 MONDO:equivalentTo Orphanet:596759 combined immunodeficiency due to RELA haploinsufficiency Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to rela haploinsufficiency -MONDO:0035696 MONDO:equivalentTo Orphanet:596941 incomplete septal cirrhosis Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incomplete septal cirrhosis -MONDO:0035706 MONDO:equivalentTo Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome -MONDO:0035707 MONDO:equivalentTo Orphanet:597746 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome -MONDO:0035713 MONDO:equivalentTo Orphanet:598164 FOXG1 syndrome due to intragenic alteration FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foxg1 syndrome due to intragenic alteration -MONDO:0035734 MONDO:equivalentTo Orphanet:599418 hereditary angioedema with normal C1inh not related to F12 or PLG variant Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema with normal c1inh not related to f12 or plg variant -MONDO:0035735 MONDO:equivalentTo Orphanet:599480 acquired hemophilia A Acquired hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophilia a -MONDO:0035736 MONDO:equivalentTo Orphanet:599485 acquired hemophilia B Acquired hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophilia b -MONDO:0035737 MONDO:equivalentTo Orphanet:599490 acquired factor V deficiency Acquired factor V deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency -MONDO:0035738 MONDO:equivalentTo Orphanet:599495 acquired factor VII deficiency Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency -MONDO:0035740 MONDO:equivalentTo Orphanet:599507 acquired factor XI deficiency Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency -MONDO:0035742 MONDO:equivalentTo Orphanet:599519 factor V short isoforms-related bleeding disorder Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v short isoforms-related bleeding disorder -MONDO:0035743 MONDO:equivalentTo Orphanet:599579 factor V amsterdam bleeding disorder Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v amsterdam bleeding disorder -MONDO:0035759 MONDO:equivalentTo Orphanet:600194 factor V atlanta bleeding disorder Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v atlanta bleeding disorder -MONDO:0035763 MONDO:equivalentTo Orphanet:567544 idiopathic non-lupus full-house nephropathy Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic non-lupus full-house nephropathy -MONDO:0035764 MONDO:equivalentTo Orphanet:567546 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance -MONDO:0035774 MONDO:equivalentTo Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance -MONDO:0035775 MONDO:equivalentTo Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome -MONDO:0035776 MONDO:equivalentTo Orphanet:600691 combined deficiency of factor VII and factor X Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined deficiency of factor vii and factor x -MONDO:0035777 MONDO:equivalentTo Orphanet:567983 parenteral nutrition-associated cholestasis Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parenteral nutrition-associated cholestasis -MONDO:0035782 MONDO:equivalentTo Orphanet:600966 non-syndromic anorectal malformation with rectourethral fistula, bulbar type Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic anorectal malformation with rectourethral fistula, bulbar type -MONDO:0035783 MONDO:equivalentTo Orphanet:600975 non-syndromic anorectal malformation with rectourethral fistula, prostatic type Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic anorectal malformation with rectourethral fistula, prostatic type -MONDO:0035819 MONDO:equivalentTo Orphanet:603448 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome -MONDO:0035821 MONDO:equivalentTo Orphanet:603515 isolated female hypospadias Isolated female hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated female hypospadias -MONDO:0035823 MONDO:equivalentTo Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klhl7-related bohring-opitz-like syndrome -MONDO:0035826 MONDO:equivalentTo Orphanet:604680 symptomatic form of X-linked centronuclear myopathy in female carriers Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of x-linked centronuclear myopathy in female carriers -MONDO:0035838 MONDO:equivalentTo Orphanet:570431 idiopathic multicentric Castleman disease Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic multicentric castleman disease -MONDO:0035879 MONDO:equivalentTo Orphanet:615943 granuloma faciale Granuloma faciale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma faciale -MONDO:0035882 MONDO:equivalentTo Orphanet:615970 chronic intervillositis of unknown etiology Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intervillositis of unknown etiology -MONDO:0035892 MONDO:equivalentTo Orphanet:94091 Mills syndrome Mills syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mills syndrome -MONDO:0035930 MONDO:equivalentTo Orphanet:583612 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency -MONDO:0035940 MONDO:equivalentTo Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) -MONDO:0035941 MONDO:equivalentTo Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(v;11q23.3) -MONDO:0035942 MONDO:equivalentTo Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) -MONDO:0035943 MONDO:equivalentTo Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hyperdiploidy -MONDO:0035944 MONDO:equivalentTo Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hypodiploidy -MONDO:0035945 MONDO:equivalentTo Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) -MONDO:0036042 MONDO:equivalentTo Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome KAT6B-related multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kat6b-related multiple congenital anomalies syndrome -MONDO:0036045 MONDO:equivalentTo Orphanet:597939 euthyroid dysprealbuminemic hyperthyroxinemia Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euthyroid dysprealbuminemic hyperthyroxinemia -MONDO:0036189 MONDO:equivalentTo Orphanet:611201 oculogastrointestinal-neurodevelopmental syndrome Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculogastrointestinal-neurodevelopmental syndrome -MONDO:0036192 MONDO:equivalentTo Orphanet:611223 EN1-related dorsoventral syndrome EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label en1-related dorsoventral syndrome -MONDO:0036193 MONDO:equivalentTo Orphanet:611237 parkinsonism with polyneuropathy Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinsonism with polyneuropathy -MONDO:0036212 MONDO:equivalentTo Orphanet:615938 spastic paraparesis-cataracts-speech delay syndrome Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraparesis-cataracts-speech delay syndrome -MONDO:0036217 MONDO:equivalentTo Orphanet:615983 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation -MONDO:0036218 MONDO:equivalentTo Orphanet:615986 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster -MONDO:0036918 MONDO:equivalentTo Orphanet:99710 punctate acrokeratoderma freckle-like pigmentation Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate acrokeratoderma freckle-like pigmentation -MONDO:0037149 MONDO:equivalentTo Orphanet:85295 HSD10 disease, atypical type HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, atypical type -MONDO:0037398 MONDO:equivalentTo Orphanet:90066 pneumonia caused by pseudomonas aeruginosa infection Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonia caused by pseudomonas aeruginosa infection -MONDO:0037939 MONDO:equivalentTo Orphanet:738 porphyria Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria -MONDO:0042727 MONDO:equivalentTo Orphanet:494421 sacrococcygeal teratoma Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sacrococcygeal teratoma -MONDO:0043317 MONDO:equivalentTo Orphanet:645617 amyopathic dermatomyositis Amyopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyopathic dermatomyositis -MONDO:0043330 MONDO:equivalentTo Orphanet:521219 Mirizzi syndrome Mirizzi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirizzi syndrome -MONDO:0043373 MONDO:equivalentTo Orphanet:90059 sudden sensorineural hearing loss Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sudden sensorineural hearing loss -MONDO:0043459 MONDO:equivalentTo Orphanet:521132 radiation-induced disorder Radiation-induced disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation-induced disorder -MONDO:0043797 MONDO:equivalentTo Orphanet:90058 spinal cord injury Spinal cord injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord injury -MONDO:0044200 MONDO:equivalentTo Orphanet:317416 T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency -MONDO:0044201 MONDO:equivalentTo Orphanet:397802 T+ B+ severe combined immunodeficiency T+ B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t+ b+ severe combined immunodeficiency -MONDO:0044304 MONDO:equivalentTo Orphanet:508523 hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphenylalaninemia due to dnajc12 deficiency -MONDO:0044332 MONDO:equivalentTo Orphanet:494541 childhood-onset benign chorea with striatal involvement Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset benign chorea with striatal involvement -MONDO:0044348 MONDO:equivalentTo Orphanet:68364 hemoglobinopathy Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy -MONDO:0044355 MONDO:equivalentTo Orphanet:178311 isolated sternocostoclavicular hyperostosis Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sternocostoclavicular hyperostosis -MONDO:0044617 MONDO:equivalentTo Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome -MONDO:0044619 MONDO:equivalentTo Orphanet:485358 propylthiouracil embryofetopathy Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label propylthiouracil embryofetopathy -MONDO:0044621 MONDO:equivalentTo Orphanet:485405 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p12.1p12.3 triplication syndrome -MONDO:0044622 MONDO:equivalentTo Orphanet:485418 EMILIN-1-related connective tissue disease EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emilin-1-related connective tissue disease -MONDO:0044624 MONDO:equivalentTo Orphanet:487809 pediatric collagenous gastritis Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric collagenous gastritis -MONDO:0044625 MONDO:equivalentTo Orphanet:487814 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation -MONDO:0044626 MONDO:equivalentTo Orphanet:488191 female infertility due to oocyte meiotic arrest Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility due to oocyte meiotic arrest -MONDO:0044627 MONDO:equivalentTo Orphanet:488239 acute macular neuroretinopathy Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute macular neuroretinopathy -MONDO:0044628 MONDO:equivalentTo Orphanet:488437 six2-related frontonasal dysplasia SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label six2-related frontonasal dysplasia -MONDO:0044629 MONDO:equivalentTo Orphanet:488586 congenital amyoplasia Congenital amyoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital amyoplasia -MONDO:0044632 MONDO:equivalentTo Orphanet:494424 extracranial carotid artery aneurysm Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extracranial carotid artery aneurysm -MONDO:0044633 MONDO:equivalentTo Orphanet:494428 idiopathic pleuroparenchymal fibroelastosis Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pleuroparenchymal fibroelastosis -MONDO:0044634 MONDO:equivalentTo Orphanet:494439 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome -MONDO:0044635 MONDO:equivalentTo Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaph1-related sensorineural hearing loss-thrombocytopenia syndrome -MONDO:0044637 MONDO:equivalentTo Orphanet:494526 infantile-onset generalized dyskinesia with orofacial involvement Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset generalized dyskinesia with orofacial involvement -MONDO:0044640 MONDO:equivalentTo Orphanet:495274 Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2t -MONDO:0044641 MONDO:equivalentTo Orphanet:495818 9q33.3q34.11 microdeletion syndrome 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q33.3q34.11 microdeletion syndrome -MONDO:0044642 MONDO:equivalentTo Orphanet:495844 c11orf73-related autosomal recessive hypomyelinating leukodystrophy C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c11orf73-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0044643 MONDO:equivalentTo Orphanet:495875 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome -MONDO:0044644 MONDO:equivalentTo Orphanet:495879 congenital agenesis of the scrotum Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital agenesis of the scrotum -MONDO:0044645 MONDO:equivalentTo Orphanet:495930 familial monosomy 7 syndrome Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial monosomy 7 syndrome -MONDO:0044646 MONDO:equivalentTo Orphanet:496641 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome -MONDO:0044647 MONDO:equivalentTo Orphanet:496686 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome -MONDO:0044648 MONDO:equivalentTo Orphanet:496689 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome -MONDO:0044649 MONDO:equivalentTo Orphanet:496693 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome -MONDO:0044651 MONDO:equivalentTo Orphanet:496756 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome -MONDO:0044656 MONDO:equivalentTo Orphanet:497737 epidermolytic nevus Epidermolytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolytic nevus -MONDO:0044657 MONDO:equivalentTo Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mme-related autosomal dominant charcot marie tooth disease type 2 -MONDO:0044660 MONDO:equivalentTo Orphanet:498251 menstrual cycle-dependent periodic fever Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menstrual cycle-dependent periodic fever -MONDO:0044663 MONDO:equivalentTo Orphanet:498359 aquagenic palmoplantar keratoderma Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aquagenic palmoplantar keratoderma -MONDO:0044675 MONDO:equivalentTo Orphanet:498481 LRP5-related primary osteoporosis LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lrp5-related primary osteoporosis -MONDO:0044682 MONDO:equivalentTo Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome -MONDO:0044685 MONDO:equivalentTo Orphanet:499047 autoimmune/inflammatory optic neuropathy Autoimmune/inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune/inflammatory optic neuropathy -MONDO:0044687 MONDO:equivalentTo Orphanet:499085 chronic relapsing inflammatory optic neuropathy Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic relapsing inflammatory optic neuropathy -MONDO:0044688 MONDO:equivalentTo Orphanet:499096 isolated optic neuritis Isolated optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis -MONDO:0044689 MONDO:equivalentTo Orphanet:499103 recurrent idiopathic neuroretinitis Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent idiopathic neuroretinitis -MONDO:0044696 MONDO:equivalentTo Orphanet:500144 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome -MONDO:0044700 MONDO:equivalentTo Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sin3a-related intellectual disability syndrome due to a point mutation -MONDO:0044701 MONDO:equivalentTo Orphanet:500180 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder -MONDO:0044702 MONDO:equivalentTo Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome -MONDO:0044714 MONDO:equivalentTo Orphanet:502423 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome -MONDO:0044715 MONDO:equivalentTo Orphanet:502430 metopic ridging-ptosis-facial dysmorphism syndrome Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metopic ridging-ptosis-facial dysmorphism syndrome -MONDO:0044717 MONDO:equivalentTo Orphanet:502437 4q25 proximal deletion syndrome 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 4q25 proximal deletion syndrome -MONDO:0044718 MONDO:equivalentTo Orphanet:502444 alkaline ceramidase 3 deficiency Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alkaline ceramidase 3 deficiency -MONDO:0044719 MONDO:equivalentTo Orphanet:502499 erythema multiforme major Erythema multiforme major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme major -MONDO:0044720 MONDO:equivalentTo Orphanet:504476 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome -MONDO:0044721 MONDO:equivalentTo Orphanet:504523 severe combined immunodeficiency due to LAT deficiency Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to lat deficiency -MONDO:0044723 MONDO:equivalentTo Orphanet:505208 3-methylglutaconic aciduria type 8 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 8 -MONDO:0044724 MONDO:equivalentTo Orphanet:505216 3-methylglutaconic aciduria type 9 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 9 -MONDO:0044725 MONDO:equivalentTo Orphanet:505227 combined immunodeficiency due to GINS1 deficiency Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to gins1 deficiency -MONDO:0044726 MONDO:equivalentTo Orphanet:505242 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome -MONDO:0044737 MONDO:equivalentTo Orphanet:506353 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction -MONDO:0044739 MONDO:equivalentTo Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome -MONDO:0044742 MONDO:equivalentTo Orphanet:512103 autosomal recessive epidermolytic ichthyosis Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive epidermolytic ichthyosis -MONDO:0044778 MONDO:equivalentTo Orphanet:86893 nodular lymphocyte predominant Hodgkin lymphoma Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma -MONDO:0044791 MONDO:equivalentTo Orphanet:529852 combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hepatocellular carcinoma and cholangiocarcinoma -MONDO:0044792 MONDO:equivalentTo Orphanet:626 large congenital melanocytic nevus Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label large congenital melanocytic nevus -MONDO:0044877 MONDO:equivalentTo Orphanet:623626 paraneoplastic cerebellar degeneration Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration -MONDO:0044970 MONDO:equivalentTo Orphanet:68380 mitochondrial disease Mitochondrial disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial disease -MONDO:0054865 MONDO:equivalentTo Orphanet:527276 encephalopathy due to mitochondrial and peroxisomal fission defect Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy due to mitochondrial and peroxisomal fission defect -MONDO:0060582 MONDO:equivalentTo Orphanet:542585 auditory neuropathy-optic atrophy syndrome Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auditory neuropathy-optic atrophy syndrome -MONDO:0100017 MONDO:equivalentTo Orphanet:2897 pityriasis rubra pilaris Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris -MONDO:0100115 MONDO:equivalentTo Orphanet:623801 acute flaccid myelitis Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis -MONDO:0100116 MONDO:equivalentTo Orphanet:576074 Middle East respiratory syndrome Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle east respiratory syndrome -MONDO:0100130 MONDO:equivalentTo Orphanet:70578 adult acute respiratory distress syndrome Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult acute respiratory distress syndrome -MONDO:0100135 MONDO:equivalentTo Orphanet:33069 Dravet syndrome Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome -MONDO:0100184 MONDO:equivalentTo Orphanet:2102 GTP cyclohydrolase I deficiency GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100244 MONDO:equivalentTo Orphanet:447 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal nocturnal hemoglobinuria -MONDO:0100247 MONDO:equivalentTo Orphanet:280633 multiple congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0100251 MONDO:equivalentTo Orphanet:306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome -MONDO:0100289 MONDO:equivalentTo Orphanet:53540 Goldmann-Favre syndrome Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goldmann-favre syndrome -MONDO:0100309 MONDO:equivalentTo Orphanet:183518 hereditary ataxia Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia -MONDO:0100326 MONDO:equivalentTo Orphanet:849 Glanzmann thrombasthenia Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanzmann thrombasthenia -MONDO:0100339 MONDO:equivalentTo Orphanet:95 Friedreich ataxia Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia -MONDO:0100347 MONDO:equivalentTo Orphanet:100093 carcinoid syndrome Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome -MONDO:0100367 MONDO:equivalentTo Orphanet:2703 port-wine nevi-mega cisterna magna-hydrocephalus syndrome Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label port-wine nevi-mega cisterna magna-hydrocephalus syndrome -MONDO:0100429 MONDO:equivalentTo Orphanet:69665 intrahepatic cholestasis of pregnancy Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrahepatic cholestasis of pregnancy -MONDO:0100464 MONDO:equivalentTo Orphanet:618899 acid sphingomyelinase deficiency Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acid sphingomyelinase deficiency -MONDO:0100466 MONDO:equivalentTo Orphanet:99001 butterfly-shaped pigment dystrophy Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label butterfly-shaped pigment dystrophy -MONDO:0100491 MONDO:equivalentTo Orphanet:247353 generalized pustular psoriasis Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis -MONDO:0100508 MONDO:equivalentTo Orphanet:213557 salivary gland type cancer of the breast Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland type cancer of the breast -MONDO:0100512 MONDO:equivalentTo Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form -MONDO:0100527 MONDO:equivalentTo Orphanet:2204 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplastic cortical hyperostosis, kozlowski-tsuruta type -MONDO:0100528 MONDO:equivalentTo Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hao-fountain syndrome due to 16p13.2 microdeletion -MONDO:0600023 MONDO:equivalentTo Orphanet:98482 idiopathic inflammatory myopathy Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy -MONDO:0700042 MONDO:equivalentTo Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency -MONDO:0800084 MONDO:equivalentTo Orphanet:93444 primary bone dysplasia with increased bone density Primary bone dysplasia with increased bone density semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with increased bone density -MONDO:0800085 MONDO:equivalentTo Orphanet:93453 dysostosis with predominant craniofacial involvement Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with predominant craniofacial involvement -MONDO:0800086 MONDO:equivalentTo Orphanet:93441 primary bone dysplasia with multiple joint dislocations Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with multiple joint dislocations -MONDO:0800087 MONDO:equivalentTo Orphanet:93422 type 11 collagen-related bone disorder Type 11 collagen-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 11 collagen-related bone disorder -MONDO:0800088 MONDO:equivalentTo Orphanet:93448 lysosomal storage disease with skeletal involvement Lysosomal storage disease with skeletal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal storage disease with skeletal involvement -MONDO:0800089 MONDO:equivalentTo Orphanet:93450 primary bone dysplasia with disorganized development of skeletal components Primary bone dysplasia with disorganized development of skeletal components semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with disorganized development of skeletal components -MONDO:0800090 MONDO:equivalentTo Orphanet:498477 ectrodactyly with and without other manifestations Ectrodactyly with and without other manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectrodactyly with and without other manifestations -MONDO:0800091 MONDO:equivalentTo Orphanet:498448 overgrowth or tall stature syndrome with skeletal involvement Overgrowth or tall stature syndrome with skeletal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth or tall stature syndrome with skeletal involvement -MONDO:0800093 MONDO:equivalentTo Orphanet:498451 dysostosis with brachydactyly without extraskeletal manifestations Dysostosis with brachydactyly without extraskeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0800094 MONDO:equivalentTo Orphanet:498454 dysostosis with brachydactyly with extraskeletal manifestations Dysostosis with brachydactyly with extraskeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0800095 MONDO:equivalentTo Orphanet:93459 syndrome with synostosis or other joint formation defect Syndrome with synostosis or other joint formation defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndrome with synostosis or other joint formation defect -MONDO:0800166 MONDO:equivalentTo Orphanet:1571 Knobloch syndrome Knobloch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knobloch syndrome -MONDO:0800175 MONDO:equivalentTo Orphanet:97292 cardiogenic shock Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock -MONDO:0800198 MONDO:equivalentTo Orphanet:701 alopecia universalis Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis -MONDO:0850001 MONDO:equivalentTo Orphanet:168486 congenital neuronal ceroid lipofuscinosis Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis -MONDO:0850007 MONDO:equivalentTo Orphanet:519274 syndromic lacrimal system disorder Syndromic lacrimal system disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic lacrimal system disorder -MONDO:0850008 MONDO:equivalentTo Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations -MONDO:0850009 MONDO:equivalentTo Orphanet:519294 syndromic microspherophakia Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia -MONDO:0850013 MONDO:equivalentTo Orphanet:617294 twin anemia-polycythemia sequence Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin anemia-polycythemia sequence -MONDO:0850014 MONDO:equivalentTo Orphanet:617297 twin-reversed arterial perfusion sequence Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence -MONDO:0850015 MONDO:equivalentTo Orphanet:617301 selective intrauterine growth restriction Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction -MONDO:0850030 MONDO:equivalentTo Orphanet:498491 complete hemimelia Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia -MONDO:0850046 MONDO:equivalentTo Orphanet:617304 amniotic fluid embolism Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism -MONDO:0850048 MONDO:equivalentTo Orphanet:617408 classic eosinophilic pustular folliculitis Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis -MONDO:0850049 MONDO:equivalentTo Orphanet:617440 painful legs and moving toes syndrome Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome -MONDO:0850050 MONDO:equivalentTo Orphanet:617449 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -MONDO:0850053 MONDO:equivalentTo Orphanet:617919 F12-associated cold autoinflammatory syndrome F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome -MONDO:0850054 MONDO:equivalentTo Orphanet:617930 hemophilia B leyden Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden -MONDO:0850058 MONDO:equivalentTo Orphanet:618891 chronic neurovisceral acid sphingomyelinase deficiency Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency -MONDO:0850059 MONDO:equivalentTo Orphanet:619233 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome -MONDO:0850064 MONDO:equivalentTo Orphanet:619340 inherited hematologic cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome -MONDO:0850065 MONDO:equivalentTo Orphanet:619363 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal-onset severe multisystemic autoinflammatory disease with increased il18 -MONDO:0850066 MONDO:equivalentTo Orphanet:619367 SAMD9L-associated autoinflammatory syndrome SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label samd9l-associated autoinflammatory syndrome -MONDO:0850067 MONDO:equivalentTo Orphanet:619941 immune deficiency due to impaired neutrophil phagocytosis and migration Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune deficiency due to impaired neutrophil phagocytosis and migration -MONDO:0850068 MONDO:equivalentTo Orphanet:619948 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -MONDO:0850069 MONDO:equivalentTo Orphanet:619953 familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinflammatory lymphoproliferative immunodeficiency -MONDO:0850070 MONDO:equivalentTo Orphanet:619972 CADINS disease CADINS disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadins disease -MONDO:0850071 MONDO:equivalentTo Orphanet:619979 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -MONDO:0850072 MONDO:equivalentTo Orphanet:620096 non-syndromic unisutural craniosynostosis Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisutural craniosynostosis -MONDO:0850073 MONDO:equivalentTo Orphanet:620102 non-syndromic unicoronal craniosynostosis Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal craniosynostosis -MONDO:0850074 MONDO:equivalentTo Orphanet:620113 non-syndromic unilambdoid craniosynostosis Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unilambdoid craniosynostosis -MONDO:0850075 MONDO:equivalentTo Orphanet:620139 non-syndromic unifrontosphenoidal craniosynostosis Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unifrontosphenoidal craniosynostosis -MONDO:0850076 MONDO:equivalentTo Orphanet:620146 non-syndromic unisquamosal craniosynostosis Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisquamosal craniosynostosis -MONDO:0850077 MONDO:equivalentTo Orphanet:620152 non-syndromic multisutural craniosynostosis Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic multisutural craniosynostosis -MONDO:0850078 MONDO:equivalentTo Orphanet:620158 non-syndromic non-specific multisutural craniosynostosis Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic non-specific multisutural craniosynostosis -MONDO:0850079 MONDO:equivalentTo Orphanet:620178 non-syndromic bilambdoid craniosynostosis Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bilambdoid craniosynostosis -MONDO:0850080 MONDO:equivalentTo Orphanet:620186 non-syndromic unicoronal and sagittal craniosynostosis Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal and sagittal craniosynostosis -MONDO:0850081 MONDO:equivalentTo Orphanet:620192 non-syndromic metopic and sagittal craniosynostosis Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic metopic and sagittal craniosynostosis -MONDO:0850082 MONDO:equivalentTo Orphanet:620198 non-syndromic bicoronal and metopic craniosynostosis Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and metopic craniosynostosis -MONDO:0850083 MONDO:equivalentTo Orphanet:620205 non-syndromic bicoronal and sagittal craniosynostosis Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and sagittal craniosynostosis -MONDO:0850084 MONDO:equivalentTo Orphanet:620212 non-syndromic pansynostosis Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic pansynostosis -MONDO:0850087 MONDO:equivalentTo Orphanet:620363 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -MONDO:0850088 MONDO:equivalentTo Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label egf-related primary hypomagnesemia with intellectual disability -MONDO:0850089 MONDO:equivalentTo Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman-like kidney tubulopathy due to mitochondrial dna mutation -MONDO:0850090 MONDO:equivalentTo Orphanet:621758 fibrosis-neurodegeneration-cerebral angiomatosis syndrome Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosis-neurodegeneration-cerebral angiomatosis syndrome -MONDO:0850095 MONDO:equivalentTo Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe syndromic thoracic aortic aneurysm and dissection -MONDO:0850096 MONDO:equivalentTo Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sbds-related severe neonatal spondylometaphyseal dysplasia -MONDO:0850097 MONDO:equivalentTo Orphanet:623615 autoimmune limbic encephalitis Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune limbic encephalitis -MONDO:0850099 MONDO:equivalentTo Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mir140-related spondyloepiphyseal dysplasia -MONDO:0850100 MONDO:equivalentTo Orphanet:623789 body integrity dysphoria Body integrity dysphoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body integrity dysphoria -MONDO:0850102 MONDO:equivalentTo Orphanet:624166 non-specific autoimmune supratentorial encephalitis with characteristic antibodies Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis with characteristic antibodies -MONDO:0850103 MONDO:equivalentTo Orphanet:624178 non-specific autoimmune supratentorial encephalitis without characteristic antibodies Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis without characteristic antibodies -MONDO:0850104 MONDO:equivalentTo Orphanet:624190 paraneoplastic isolated brainstem encephalitis Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic isolated brainstem encephalitis -MONDO:0850105 MONDO:equivalentTo Orphanet:624199 non-specific autoimmune brainstem encephalitis with characteristic antibodies Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis with characteristic antibodies -MONDO:0850106 MONDO:equivalentTo Orphanet:624216 non-specific autoimmune brainstem encephalitis without characteristic antibodies Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis without characteristic antibodies -MONDO:0850107 MONDO:equivalentTo Orphanet:624244 postinfectious cerebellitis Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious cerebellitis -MONDO:0850108 MONDO:equivalentTo Orphanet:624259 non-specific autoimmune cerebellar ataxia with characteristic antibodies Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia with characteristic antibodies -MONDO:0850109 MONDO:equivalentTo Orphanet:624268 non-specific autoimmune cerebellar ataxia without characteristic antibodies Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia without characteristic antibodies -MONDO:0850115 MONDO:equivalentTo Orphanet:99704 early-onset obesity-hyperphagia-severe developmental delay syndrome Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset obesity-hyperphagia-severe developmental delay syndrome -MONDO:0858989 MONDO:equivalentTo Orphanet:631079 autosomal recessive spastic paraplegia type 84 Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 84 -MONDO:0858990 MONDO:equivalentTo Orphanet:631082 autosomal recessive spastic paraplegia type 85 Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 85 -MONDO:0858991 MONDO:equivalentTo Orphanet:631085 autosomal recessive spastic paraplegia type 86 Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 86 -MONDO:0858992 MONDO:equivalentTo Orphanet:631088 autosomal recessive spastic paraplegia type 87 Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 87 -MONDO:0858997 MONDO:equivalentTo Orphanet:631251 cancer of unknown primary site Cancer of unknown primary site semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cancer of unknown primary site -MONDO:0858998 MONDO:equivalentTo Orphanet:632603 mesomelic dysplasia-digital anomalies-intellectual disability syndrome Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia-digital anomalies-intellectual disability syndrome -MONDO:0858999 MONDO:equivalentTo Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kdm3b-related intellectual disability-facial dysmorphism-short stature syndrome -MONDO:0859000 MONDO:equivalentTo Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related developmental delay-intellectual disability-sensorineural deafness syndrome -MONDO:0859001 MONDO:equivalentTo Orphanet:633028 CPE-related Prader-Willi-like syndrome CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cpe-related prader-willi-like syndrome -MONDO:0859002 MONDO:equivalentTo Orphanet:633035 intellectual disability-early-onset cataract-microcephaly syndrome Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-early-onset cataract-microcephaly syndrome -MONDO:0859003 MONDO:equivalentTo Orphanet:633099 PAICS deficiency PAICS deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paics deficiency -MONDO:0859004 MONDO:equivalentTo Orphanet:633124 invasive scopulariopsis infection Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label invasive scopulariopsis infection -MONDO:0859005 MONDO:equivalentTo Orphanet:633211 preaxial digit brachydactyly-webbed fingers Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preaxial digit brachydactyly-webbed fingers -MONDO:0859006 MONDO:equivalentTo Orphanet:633228 proximal femoral focal deficiency Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal femoral focal deficiency -MONDO:0859007 MONDO:equivalentTo Orphanet:634511 mosaic Legius syndrome Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic legius syndrome -MONDO:0859008 MONDO:equivalentTo Orphanet:634518 neurofibromatosis/schwannomatosis Neurofibromatosis/schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis/schwannomatosis -MONDO:0859565 MONDO:equivalentTo Orphanet:98722 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0859692 MONDO:equivalentTo Orphanet:623638 immune-mediated cerebellar ataxia Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune-mediated cerebellar ataxia -MONDO:0859761 MONDO:equivalentTo Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome -MONDO:0859762 MONDO:equivalentTo Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome -MONDO:0859763 MONDO:equivalentTo Orphanet:634461 mosaic neurofibromatosis type 1 Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic neurofibromatosis type 1 -MONDO:0859764 MONDO:equivalentTo Orphanet:634475 mosaic NF2-related schwannomatosis Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic nf2-related schwannomatosis -MONDO:0859765 MONDO:equivalentTo Orphanet:634492 mosaic schwannomatosis Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic schwannomatosis -MONDO:0957018 MONDO:equivalentTo Orphanet:319719 autoinflammatory syndrome of childhood Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome of childhood -MONDO:0957048 MONDO:equivalentTo Orphanet:519302 isolated macular dystrophy Isolated macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated macular dystrophy -MONDO:0957111 MONDO:equivalentTo Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0957112 MONDO:equivalentTo Orphanet:98739 neurological muscular channelopathy due to a genetic chloride channel defect Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic chloride channel defect -MONDO:0957113 MONDO:equivalentTo Orphanet:98740 neurological muscular channelopathy due to a genetic calcium channel defect Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic calcium channel defect -MONDO:0957114 MONDO:equivalentTo Orphanet:98741 neurological muscular channelopathy due to a genetic potassium channel defect Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0957115 MONDO:equivalentTo Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0957337 MONDO:equivalentTo Orphanet:519300 isolated chorioretinal dystrophy Isolated chorioretinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated chorioretinal dystrophy -MONDO:0957341 MONDO:equivalentTo Orphanet:519331 secondary early-onset glaucoma Secondary early-onset glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary early-onset glaucoma -MONDO:0957403 MONDO:equivalentTo Orphanet:324939 periodic fever syndrome of childhood Periodic fever syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever syndrome of childhood -MONDO:0957404 MONDO:equivalentTo Orphanet:324942 pyogenic autoinflammatory syndrome of childhood Pyogenic autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic autoinflammatory syndrome of childhood -MONDO:0957405 MONDO:equivalentTo Orphanet:324950 granulomatous autoinflammatory syndrome of childhood Granulomatous autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous autoinflammatory syndrome of childhood -MONDO:0957408 MONDO:equivalentTo Orphanet:481671 type 1 interferonopathy of childhood Type 1 interferonopathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 interferonopathy of childhood -MONDO:0957421 MONDO:equivalentTo Orphanet:637051 borna virus encephalitis Borna virus encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna virus encephalitis -MONDO:0957423 MONDO:equivalentTo Orphanet:641350 immunotherapy induced hypophysitis Immunotherapy induced hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotherapy induced hypophysitis -MONDO:0957426 MONDO:equivalentTo Orphanet:641368 autosomal recessive hyper-IgE syndrome Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyper-ige syndrome -MONDO:0957427 MONDO:equivalentTo Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) -MONDO:0957428 MONDO:equivalentTo Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(17;19) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(17;19) -MONDO:0957430 MONDO:equivalentTo Orphanet:641496 childhood-onset schizophrenia Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset schizophrenia -MONDO:0957431 MONDO:equivalentTo Orphanet:641613 endogenous Cushing syndrome Endogenous Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endogenous cushing syndrome -MONDO:0957432 MONDO:equivalentTo Orphanet:641829 neonatal compartment syndrome Neonatal compartment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal compartment syndrome -MONDO:0957433 MONDO:equivalentTo Orphanet:642071 primary pulmonary vein stenosis Primary pulmonary vein stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary vein stenosis -MONDO:0957442 MONDO:equivalentTo Orphanet:642954 autosomal recessive ataxia due to PEX16 deficiency Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex16 deficiency -MONDO:0957443 MONDO:equivalentTo Orphanet:642965 autosomal recessive ataxia due to PEX2 deficiency Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex2 deficiency -MONDO:0957451 MONDO:equivalentTo Orphanet:645340 non-terminal myelocystocele Non-terminal myelocystocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-terminal myelocystocele -MONDO:0957452 MONDO:equivalentTo Orphanet:645350 segmental arterial mediolysis Segmental arterial mediolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental arterial mediolysis -MONDO:0957453 MONDO:equivalentTo Orphanet:645383 true myelomeningocele True myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label true myelomeningocele -MONDO:0957454 MONDO:equivalentTo Orphanet:645388 hemi-myelomeningocele Hemi-myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemi-myelomeningocele -MONDO:0957456 MONDO:equivalentTo Orphanet:645613 classical dermatomyositis Classical dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classical dermatomyositis -MONDO:0957458 MONDO:equivalentTo Orphanet:645626 adermatopathic dermatomyositis Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adermatopathic dermatomyositis -MONDO:0957459 MONDO:equivalentTo Orphanet:645749 congenital esophageal stenosis Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital esophageal stenosis -MONDO:0957460 MONDO:equivalentTo Orphanet:645793 spontaneous intestinal perforation Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous intestinal perforation -MONDO:0957461 MONDO:equivalentTo Orphanet:645807 primary tuberculous lymphadenitis Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tuberculous lymphadenitis -MONDO:0957462 MONDO:equivalentTo Orphanet:645814 primary pulmonary tuberculosis Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary tuberculosis -MONDO:0957463 MONDO:equivalentTo Orphanet:645822 primary bone and joint tuberculosis Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone and joint tuberculosis -MONDO:0957464 MONDO:equivalentTo Orphanet:645849 primary cutaneous tuberculosis Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous tuberculosis -MONDO:0957465 MONDO:equivalentTo Orphanet:645854 multifocal tuberculosis Multifocal tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal tuberculosis -MONDO:0957466 MONDO:equivalentTo Orphanet:645859 primary tuberculosis of the digestive system Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tuberculosis of the digestive system -MONDO:0957467 MONDO:equivalentTo Orphanet:645874 primary genito-urinary tuberculosis Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary genito-urinary tuberculosis -MONDO:0957473 MONDO:equivalentTo Orphanet:647681 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome -MONDO:0957476 MONDO:equivalentTo Orphanet:647794 isolated persistent urogenital sinus Isolated persistent urogenital sinus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated persistent urogenital sinus -MONDO:0957477 MONDO:equivalentTo Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myt1l-related developmental delay-intellectual disability-obesity syndrome -MONDO:0957481 MONDO:equivalentTo Orphanet:647823 idiopathic pregnancy-associated osteoporosis Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pregnancy-associated osteoporosis -MONDO:0957487 MONDO:equivalentTo Orphanet:648919 idiopathic catatonia Idiopathic catatonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic catatonia -MONDO:0957556 MONDO:equivalentTo Orphanet:99126 congenital pulmonary vein atresia Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary vein atresia -MONDO:8000010 MONDO:equivalentTo Orphanet:80 antiphospholipid syndrome Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome +MONDO:0014563 MONDO:equivalentTo Orphanet:653880 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency +MONDO:0041186 MONDO:equivalentTo Orphanet:658584 Rowell syndrome Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome MONDO:0000022 MONDO:equivalentTo ICD10CM:N39.44 nocturnal enuresis Nocturnal enuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocturnal enuresis MONDO:0000190 MONDO:equivalentTo ICD10CM:I49.01 ventricular fibrillation Ventricular fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular fibrillation MONDO:0000397 MONDO:equivalentTo ICD10CM:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy @@ -7077,6 +1035,7 @@ MONDO:0009067 MONDO:equivalentTo ICD10CM:E72.01 cystinuria Cystinuria semapv:Lex MONDO:0009756 MONDO:equivalentTo ICD10CM:E75.240 Niemann-Pick disease type A Niemann-Pick disease type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type a MONDO:0009887 MONDO:equivalentTo ICD10CM:J84.117 desquamative interstitial pneumonia Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia MONDO:0010631 MONDO:equivalentTo ICD10CM:Q82.3 incontinentia pigmenti Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti +MONDO:0010683 MONDO:equivalentTo ICD10CM:G71.220 X-linked myotubular myopathy X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myotubular myopathy MONDO:0010787 MONDO:equivalentTo ICD10CM:H49.81 Kearns-Sayre syndrome Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kearns-sayre syndrome MONDO:0010811 MONDO:equivalentTo ICD10CM:N40 benign prostatic hyperplasia Benign prostatic hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign prostatic hyperplasia MONDO:0010837 MONDO:equivalentTo ICD10CM:E21.0 primary hyperparathyroidism Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperparathyroidism @@ -7248,15 +1207,15 @@ MONDO:0800198 MONDO:equivalentTo ICD10CM:L63.1 alopecia universalis Alopecia uni MONDO:0850231 MONDO:equivalentTo ICD10CM:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0007607 MONDO:equivalentTo OMIMPS:135150 Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label birt-hogg-dube syndrome +MONDO:0002010 MONDO:equivalentTo OMIMPS:305450 FG syndrome FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome MONDO:0007709 MONDO:equivalentTo OMIMPS:141200 hematuria, benign familial Hematuria, benign familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hematuria, benign familial MONDO:0008116 MONDO:equivalentTo OMIMPS:164300 oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy MONDO:0009813 MONDO:equivalentTo OMIMPS:609628 chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic recurrent multifocal osteomyelitis -MONDO:0010204 MONDO:equivalentTo OMIMPS:278000 lysosomal acid lipase deficiency Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid lipase deficiency MONDO:0011612 MONDO:equivalentTo OMIMPS:605899 glycine encephalopathy Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy MONDO:0012172 MONDO:equivalentTo OMIMPS:609015 mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency MONDO:0013343 MONDO:equivalentTo OMIMPS:613652 C1Q deficiency C1q deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c1q deficiency MONDO:0018875 MONDO:equivalentTo OMIMPS:151623 Li-Fraumeni syndrome Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0030309 MONDO:equivalentTo OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive Leber hereditary optic neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy, autosomal recessive MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis MONDO:0017289 MONDO:equivalentTo NCIT:C190105 fetal lung interstitial tumor Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv index 24c1c33a..a0d68953 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv @@ -1,6 +1,7 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0000651 obsolete thoracic disorder NCIT:C35742 MONDO:equivalentTo Thoracic Disorder semapv:UnspecifiedMatching +MONDO:0002063 obsolete breast papillomatosis NCIT:C6977 MONDO:equivalentTo Breast Papillomatosis semapv:UnspecifiedMatching MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma NCIT:C27481 MONDO:equivalentTo Mesenchymal Extraskeletal Chondrosarcoma semapv:UnspecifiedMatching MONDO:0003998 obsolete vaginal tubular adenoma NCIT:C40257 MONDO:equivalentTo Vaginal Tubular Adenoma semapv:UnspecifiedMatching MONDO:0004204 squamous cell skin papilloma NCIT:C4462 MONDO:equivalentTo Skin Squamous Papilloma semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index edf4aae9..86f48e9a 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -5,6 +5,7 @@ MONDO:0000169 microphthalmia, isolated, with cataract OMIMPS:156850 MONDO:equiva MONDO:0000204 obsolete skin creases, congenital symmetric circumferential OMIMPS:156610 MONDO:equivalentTo Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO:0000218 obsolete preimplantation embryonic lethality OMIMPS:616814 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T OMIM:613740 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0002010 FG syndrome OMIMPS:305400 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007061 obsolete acylase, cobalt-activated OMIM:102590 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007139 obsolete Antipyrine metabolism OMIM:107290 MONDO:equivalentTo antipyrine metabolism semapv:UnspecifiedMatching MONDO:0007331 obsolete cleft chin OMIM:119000 MONDO:equivalentTo cleft chin semapv:UnspecifiedMatching @@ -44,7 +45,6 @@ MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:Uns MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome OMIM:607655 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmonary function semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D OMIM:608890 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -62,7 +62,6 @@ MONDO:0013701 obsolete MRT32 OMIM:614339 MONDO:equivalentTo semapv:UnspecifiedM MONDO:0013733 obsolete accelerated tumor formation, susceptibility to OMIM:614401 MONDO:equivalentTo accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of OMIM:615121 MONDO:equivalentTo stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO:0014330 obsolete eculizumab, poor response to OMIM:615749 MONDO:equivalentTo eculizumab, poor response to semapv:UnspecifiedMatching -MONDO:0014695 glioma susceptibility 9 OMIM:616568 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0014763 obsolete Bombay phenotype OMIM:616754 MONDO:equivalentTo bombay phenotype semapv:UnspecifiedMatching MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency OMIM:616903 MONDO:equivalentTo thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 OMIM:616958 MONDO:equivalentTo semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 67c255c1..d79e11e0 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -1,2 +1,903 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0015076 obsolete rare parathyroid tumor Orphanet:100090 MONDO:equivalentTo Rare parathyroid tumor semapv:UnspecifiedMatching +MONDO:0015081 obsolete neuroendocrine tumor with other location Orphanet:100101 MONDO:equivalentTo Neuroendocrine tumor with other location semapv:UnspecifiedMatching +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia Orphanet:100980 MONDO:equivalentTo Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia Orphanet:100981 MONDO:equivalentTo Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia Orphanet:100982 MONDO:equivalentTo Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching +MONDO:0015106 obsolete rare urogenital disease Orphanet:101433 MONDO:equivalentTo Rare urogenital disease semapv:UnspecifiedMatching +MONDO:0015107 obsolete rare genetic eye disease Orphanet:101435 MONDO:equivalentTo Rare genetic eye disease semapv:UnspecifiedMatching +MONDO:0015110 obsolete genetic cardiac rhythm disease Orphanet:101934 MONDO:equivalentTo Genetic cardiac rhythm disease semapv:UnspecifiedMatching +MONDO:0015111 obsolete gastroesophageal disease Orphanet:101936 MONDO:equivalentTo Rare gastroesophageal disease semapv:UnspecifiedMatching +MONDO:0015112 obsolete rare pancreatic disease Orphanet:101937 MONDO:equivalentTo Rare pancreatic disease semapv:UnspecifiedMatching +MONDO:0015113 obsolete rare vascular liver disease Orphanet:101938 MONDO:equivalentTo Rare vascular liver disease semapv:UnspecifiedMatching +MONDO:0015114 obsolete rare parenchymal liver disease Orphanet:101939 MONDO:equivalentTo Rare parenchymal liver disease semapv:UnspecifiedMatching +MONDO:0015115 obsolete rare genetic metabolic liver disease Orphanet:101940 MONDO:equivalentTo Rare metabolic liver disease semapv:UnspecifiedMatching +MONDO:0015116 obsolete rare biliary tract disease Orphanet:101941 MONDO:equivalentTo Rare biliary tract disease semapv:UnspecifiedMatching +MONDO:0015117 obsolete rare hepatic and biliary tract tumor Orphanet:101943 MONDO:equivalentTo Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching +MONDO:0015118 obsolete rare pulmonary disease Orphanet:101944 MONDO:equivalentTo Rare pulmonary disease semapv:UnspecifiedMatching +MONDO:0015119 obsolete bronchopulmonary tumor Orphanet:101945 MONDO:equivalentTo Rare bronchopulmonary tumor semapv:UnspecifiedMatching +MONDO:0015121 obsolete rare eye tumor Orphanet:101950 MONDO:equivalentTo Rare eye tumor semapv:UnspecifiedMatching +MONDO:0015122 obsolete rare diabetes mellitus Orphanet:101952 MONDO:equivalentTo Rare diabetes mellitus semapv:UnspecifiedMatching +MONDO:0015123 obsolete rare inherited dyslipidemia Orphanet:101953 MONDO:equivalentTo Rare dyslipidemia semapv:UnspecifiedMatching +MONDO:0015124 obsolete rare adrenal disease Orphanet:101954 MONDO:equivalentTo Rare adrenal disease semapv:UnspecifiedMatching +MONDO:0015125 obsolete rare thyroid disease Orphanet:101955 MONDO:equivalentTo Rare thyroid disease semapv:UnspecifiedMatching +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency Orphanet:101963 MONDO:equivalentTo Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production Orphanet:101977 MONDO:equivalentTo Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect Orphanet:101985 MONDO:equivalentTo Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity Orphanet:101988 MONDO:equivalentTo Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching +MONDO:0015139 obsolete rare epilepsy Orphanet:101998 MONDO:equivalentTo Rare epilepsy semapv:UnspecifiedMatching +MONDO:0015141 obsolete disorder of medulla oblongata Orphanet:102000 MONDO:equivalentTo Medullar disease semapv:UnspecifiedMatching +MONDO:0015143 obsolete rare movement disorder Orphanet:102003 MONDO:equivalentTo Rare movement disorder semapv:UnspecifiedMatching +MONDO:0015144 obsolete brain inflammatory disease Orphanet:102005 MONDO:equivalentTo Brain inflammatory disease semapv:UnspecifiedMatching +MONDO:0015145 obsolete neurovascular malformation Orphanet:102006 MONDO:equivalentTo Neurovascular malformation semapv:UnspecifiedMatching +MONDO:0015162 obsolete rare syndromic intellectual disability Orphanet:102369 MONDO:equivalentTo Rare syndromic intellectual disability semapv:UnspecifiedMatching +MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly Orphanet:104004 MONDO:equivalentTo Intestinal disease due to vitamin absorption anomaly semapv:UnspecifiedMatching +MONDO:0015180 obsolete intestinal disease due to fat malabsorption Orphanet:104005 MONDO:equivalentTo Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching +MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect Orphanet:104006 MONDO:equivalentTo Congenital intestinal disease due to an enzymatic defect semapv:UnspecifiedMatching +MONDO:0015188 obsolete metabolic disorder with intestinal involvement Orphanet:104013 MONDO:equivalentTo Metabolic disease with intestinal involvement semapv:UnspecifiedMatching +MONDO:0015207 obsolete non-syndromic esophageal malformation Orphanet:108959 MONDO:equivalentTo Non-syndromic esophageal malformation semapv:UnspecifiedMatching +MONDO:0015208 obsolete syndromic esophageal malformation Orphanet:108961 MONDO:equivalentTo Syndromic esophageal malformation semapv:UnspecifiedMatching +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation Orphanet:108963 MONDO:equivalentTo Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching +MONDO:0015210 obsolete syndromic gastroduodenal malformation Orphanet:108965 MONDO:equivalentTo Syndromic gastroduodenal malformation semapv:UnspecifiedMatching +MONDO:0015214 obsolete syndromic visceral malformation Orphanet:108973 MONDO:equivalentTo Syndromic visceral malformation semapv:UnspecifiedMatching +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation Orphanet:108977 MONDO:equivalentTo Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation Orphanet:108979 MONDO:equivalentTo Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching +MONDO:0015219 obsolete non-syndromic central nervous system malformation Orphanet:108989 MONDO:equivalentTo Non-syndromic central nervous system malformation semapv:UnspecifiedMatching +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature Orphanet:108991 MONDO:equivalentTo Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation Orphanet:108993 MONDO:equivalentTo Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation Orphanet:108995 MONDO:equivalentTo Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching +MONDO:0015223 obsolete rare anemia Orphanet:108997 MONDO:equivalentTo Rare anemia semapv:UnspecifiedMatching +MONDO:0015224 obsolete rare intoxication Orphanet:108999 MONDO:equivalentTo Rare disorder due to toxic effects semapv:UnspecifiedMatching +MONDO:0015227 obsolete non-syndromic limb malformation Orphanet:109011 MONDO:equivalentTo Non-syndromic limb malformation semapv:UnspecifiedMatching +MONDO:0015245 obsolete rare intestinal disease Orphanet:117569 MONDO:equivalentTo Rare intestinal disease semapv:UnspecifiedMatching +MONDO:0015305 obsolete rare endometriosis Orphanet:137820 MONDO:equivalentTo Extrapelvic endometriosis semapv:UnspecifiedMatching +MONDO:0015310 obsolete syndromic optic nerve hypoplasia Orphanet:137905 MONDO:equivalentTo Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome Orphanet:138044 MONDO:equivalentTo Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome Orphanet:138059 MONDO:equivalentTo Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching +MONDO:0015328 obsolete rare bone development disorder Orphanet:139012 MONDO:equivalentTo Rare bone development disorder semapv:UnspecifiedMatching +MONDO:0015329 obsolete malformation syndrome with short stature Orphanet:139021 MONDO:equivalentTo Malformation syndrome with short stature semapv:UnspecifiedMatching +MONDO:0015330 obsolete overgrowth/obesity syndrome Orphanet:139024 MONDO:equivalentTo Overgrowth/obesity syndrome semapv:UnspecifiedMatching +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement Orphanet:139027 MONDO:equivalentTo Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement Orphanet:139030 MONDO:equivalentTo Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching +MONDO:0015334 obsolete branchial arch or oral-acral syndrome Orphanet:139036 MONDO:equivalentTo Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate Orphanet:139039 MONDO:equivalentTo Orofacial clefting syndrome semapv:UnspecifiedMatching +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component Orphanet:139042 MONDO:equivalentTo Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy Orphanet:140453 MONDO:equivalentTo Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy Orphanet:140456 MONDO:equivalentTo Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy Orphanet:140459 MONDO:equivalentTo Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy Orphanet:140474 MONDO:equivalentTo Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy Orphanet:140477 MONDO:equivalentTo Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching +MONDO:0015368 obsolete neuro-ophthalmological disease Orphanet:140653 MONDO:equivalentTo Neuro-ophthalmological disease semapv:UnspecifiedMatching +MONDO:0015412 obsolete median facial cleft Orphanet:141234 MONDO:equivalentTo Median facial cleft semapv:UnspecifiedMatching +MONDO:0015415 obsolete oblique facial cleft Orphanet:141253 MONDO:equivalentTo Oblique facial cleft semapv:UnspecifiedMatching +MONDO:0015418 obsolete lateral facial cleft Orphanet:141269 MONDO:equivalentTo Lateral facial cleft semapv:UnspecifiedMatching +MONDO:0015475 obsolete rare head and neck malformation Orphanet:155832 MONDO:equivalentTo Rare head and neck malformation semapv:UnspecifiedMatching +MONDO:0015478 obsolete paramedian facial cleft Orphanet:155867 MONDO:equivalentTo Paramedian facial cleft semapv:UnspecifiedMatching +MONDO:0015485 obsolete primary hereditary glaucoma Orphanet:156005 MONDO:equivalentTo Primary early-onset glaucoma semapv:UnspecifiedMatching +MONDO:0015488 obsolete predominantly large-vessel vasculitis Orphanet:156140 MONDO:equivalentTo Predominantly large-vessel vasculitis semapv:UnspecifiedMatching +MONDO:0015489 obsolete predominantly medium-vessel vasculitis Orphanet:156143 MONDO:equivalentTo Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching +MONDO:0015490 obsolete predominantly small-vessel vasculitis Orphanet:156146 MONDO:equivalentTo Predominantly small-vessel vasculitis semapv:UnspecifiedMatching +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes Orphanet:156202 MONDO:equivalentTo Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching +MONDO:0015499 obsolete paralytic facial malformation Orphanet:156224 MONDO:equivalentTo Paralytic facial malformation semapv:UnspecifiedMatching +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations Orphanet:156237 MONDO:equivalentTo Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching +MONDO:0015502 obsolete pinnae and external auditory canal anomaly Orphanet:156243 MONDO:equivalentTo Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching +MONDO:0015504 obsolete larynx anomaly Orphanet:156249 MONDO:equivalentTo Larynx anomaly semapv:UnspecifiedMatching +MONDO:0015505 obsolete tracheal anomaly Orphanet:156252 MONDO:equivalentTo Tracheal anomaly semapv:UnspecifiedMatching +MONDO:0015506 obsolete rare syndrome with cardiac malformations Orphanet:156532 MONDO:equivalentTo Rare syndrome with cardiac malformations semapv:UnspecifiedMatching +MONDO:0015507 obsolete rare genetic hepatic disease Orphanet:156601 MONDO:equivalentTo Rare genetic hepatic disease semapv:UnspecifiedMatching +MONDO:0015508 obsolete hereditary parenchymatous liver disease Orphanet:156604 MONDO:equivalentTo Genetic parenchymatous liver disease semapv:UnspecifiedMatching +MONDO:0015509 obsolete hereditary biliary tract disease Orphanet:156607 MONDO:equivalentTo Genetic biliary tract disease semapv:UnspecifiedMatching +MONDO:0015510 obsolete rare genetic respiratory disease Orphanet:156610 MONDO:equivalentTo Rare genetic respiratory disease semapv:UnspecifiedMatching +MONDO:0015511 obsolete rare genetic urogenital disease Orphanet:156619 MONDO:equivalentTo Rare genetic urogenital disease semapv:UnspecifiedMatching +MONDO:0015512 obsolete genetic hypertension Orphanet:156629 MONDO:equivalentTo Rare genetic cause of hypertension semapv:UnspecifiedMatching +MONDO:0015513 obsolete rare genetic endocrine disease Orphanet:156638 MONDO:equivalentTo Rare genetic endocrine disease semapv:UnspecifiedMatching +MONDO:0015549 obsolete rare genetic hematologic disease Orphanet:158300 MONDO:equivalentTo Rare genetic hematologic disease semapv:UnspecifiedMatching +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration Orphanet:163209 MONDO:equivalentTo Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching +MONDO:0015575 obsolete rare bacterial infectious disease Orphanet:163582 MONDO:equivalentTo Rare bacterial infectious disease semapv:UnspecifiedMatching +MONDO:0015576 obsolete rare viral disease Orphanet:163585 MONDO:equivalentTo Rare viral disease semapv:UnspecifiedMatching +MONDO:0015577 obsolete rare parasitic disease Orphanet:163588 MONDO:equivalentTo Rare parasitic disease semapv:UnspecifiedMatching +MONDO:0015578 obsolete rare mycosis Orphanet:163591 MONDO:equivalentTo Rare mycosis semapv:UnspecifiedMatching +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium Orphanet:163637 MONDO:equivalentTo Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching +MONDO:0015603 obsolete rare odontal or periodontal disorder Orphanet:164001 MONDO:equivalentTo Rare odontal or periodontal disorder semapv:UnspecifiedMatching +MONDO:0015615 obsolete rare genetic gastroenterological disease Orphanet:165652 MONDO:equivalentTo Rare genetic gastroenterological disease semapv:UnspecifiedMatching +MONDO:0015616 obsolete rare genetic intestinal disease Orphanet:165655 MONDO:equivalentTo Genetic intestinal disease semapv:UnspecifiedMatching +MONDO:0015617 obsolete hereditary gastro-esophageal disease Orphanet:165658 MONDO:equivalentTo Genetic gastro-esophageal disease semapv:UnspecifiedMatching +MONDO:0015618 obsolete genetic pancreatic disease Orphanet:165661 MONDO:equivalentTo Genetic pancreatic disease semapv:UnspecifiedMatching +MONDO:0015620 obsolete syndromic urogenital tract malformation Orphanet:165707 MONDO:equivalentTo Syndromic urogenital tract malformation semapv:UnspecifiedMatching +MONDO:0015621 obsolete rare abdominal surgical disease Orphanet:165711 MONDO:equivalentTo Rare abdominal surgical disease semapv:UnspecifiedMatching +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy Orphanet:166466 MONDO:equivalentTo Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature Orphanet:166469 MONDO:equivalentTo Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes Orphanet:166475 MONDO:equivalentTo Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching +MONDO:0015655 obsolete cerebral malformation with epilepsy Orphanet:166478 MONDO:equivalentTo Cerebral malformation with epilepsy semapv:UnspecifiedMatching +MONDO:0015656 obsolete metabolic disease with epilepsy Orphanet:166481 MONDO:equivalentTo Metabolic diseases with epilepsy semapv:UnspecifiedMatching +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy Orphanet:166484 MONDO:equivalentTo Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy Orphanet:166487 MONDO:equivalentTo Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching +MONDO:0015659 obsolete infectious disease with epilepsy Orphanet:166490 MONDO:equivalentTo Infectious disease with epilepsy semapv:UnspecifiedMatching +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect Orphanet:166775 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching +MONDO:0015668 obsolete hereditary dentin defect Orphanet:167759 MONDO:equivalentTo Hereditary dentin defect semapv:UnspecifiedMatching +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta Orphanet:167762 MONDO:equivalentTo Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0015673 obsolete rare cardiac tumor Orphanet:168194 MONDO:equivalentTo Rare cardiac tumor semapv:UnspecifiedMatching +MONDO:0015682 obsolete primary peritoneal tumor Orphanet:168803 MONDO:equivalentTo Primary peritoneal tumor semapv:UnspecifiedMatching +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency Orphanet:169361 MONDO:equivalentTo Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching +MONDO:0015765 obsolete congenital myopathy with cores Orphanet:172976 MONDO:equivalentTo Congenital myopathy with cores semapv:UnspecifiedMatching +MONDO:0015777 obsolete adult hypothyroidism Orphanet:177101 MONDO:equivalentTo Rare adult hypothyroidism semapv:UnspecifiedMatching +MONDO:0015778 obsolete syndromic hypothyroidism Orphanet:177107 MONDO:equivalentTo Syndromic hypothyroidism semapv:UnspecifiedMatching +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations Orphanet:178025 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity Orphanet:179006 MONDO:equivalentTo Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching +MONDO:0015828 obsolete uterovaginal malformation Orphanet:180062 MONDO:equivalentTo Uterovaginal malformation semapv:UnspecifiedMatching +MONDO:0015846 obsolete syndromic uterovaginal malformation Orphanet:180148 MONDO:equivalentTo Syndromic uterovaginal malformation semapv:UnspecifiedMatching +MONDO:0015851 obsolete rare breast malformation Orphanet:180163 MONDO:equivalentTo Rare breast malformation semapv:UnspecifiedMatching +MONDO:0015852 obsolete excess breast volume or number Orphanet:180170 MONDO:equivalentTo Excess breast volume or number semapv:UnspecifiedMatching +MONDO:0015853 obsolete deficient breast volume or number Orphanet:180173 MONDO:equivalentTo Deficient breast volume or number semapv:UnspecifiedMatching +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease Orphanet:180199 MONDO:equivalentTo Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching +MONDO:0015858 obsolete rare non-malformative breast disease Orphanet:180202 MONDO:equivalentTo Rare non-malformative breast disease semapv:UnspecifiedMatching +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease Orphanet:180205 MONDO:equivalentTo Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle Orphanet:180208 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching +MONDO:0015861 obsolete rare uterine adnexal tumor Orphanet:180220 MONDO:equivalentTo Rare uterine adnexal tumor semapv:UnspecifiedMatching +MONDO:0015868 obsolete rare breast tumor Orphanet:180250 MONDO:equivalentTo Rare breast tumor semapv:UnspecifiedMatching +MONDO:0015870 obsolete rare malignant breast tumor Orphanet:180257 MONDO:equivalentTo Rare malignant breast tumor semapv:UnspecifiedMatching +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease Orphanet:180303 MONDO:equivalentTo Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching +MONDO:0015876 obsolete rare vulvovaginal tumor Orphanet:180312 MONDO:equivalentTo Rare vulvovaginal tumor semapv:UnspecifiedMatching +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta Orphanet:180766 MONDO:equivalentTo Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation Orphanet:180776 MONDO:equivalentTo Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation Orphanet:180779 MONDO:equivalentTo Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching +MONDO:0015881 obsolete gastroesophageal tumor Orphanet:180821 MONDO:equivalentTo Rare gastroesophageal tumor semapv:UnspecifiedMatching +MONDO:0015886 obsolete rare diabetes mellitus type 1 Orphanet:181371 MONDO:equivalentTo Rare diabetes mellitus type 1 semapv:UnspecifiedMatching +MONDO:0015887 obsolete rare diabetes mellitus type 2 Orphanet:181376 MONDO:equivalentTo Rare diabetes mellitus type 2 semapv:UnspecifiedMatching +MONDO:0015888 obsolete other rare diabetes mellitus Orphanet:181381 MONDO:equivalentTo Other rare diabetes mellitus semapv:UnspecifiedMatching +MONDO:0015889 obsolete rare hypothalamic or pituitary disease Orphanet:181384 MONDO:equivalentTo Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism Orphanet:181387 MONDO:equivalentTo Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies Orphanet:181390 MONDO:equivalentTo Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching +MONDO:0015893 obsolete rare hypothyroidism Orphanet:181396 MONDO:equivalentTo Rare hypothyroidism semapv:UnspecifiedMatching +MONDO:0015894 obsolete rare hyperthyroidism Orphanet:181399 MONDO:equivalentTo Rare hyperthyroidism semapv:UnspecifiedMatching +MONDO:0015895 obsolete syndrome with hypoparathyroidism Orphanet:181402 MONDO:equivalentTo Syndrome with hypoparathyroidism semapv:UnspecifiedMatching +MONDO:0015896 obsolete rare hypoparathyroidism Orphanet:181405 MONDO:equivalentTo Rare hypoparathyroidism semapv:UnspecifiedMatching +MONDO:0015897 obsolete rare hyperparathyroidism Orphanet:181408 MONDO:equivalentTo Rare hyperparathyroidism semapv:UnspecifiedMatching +MONDO:0015899 obsolete rare primary hyperaldosteronism Orphanet:181415 MONDO:equivalentTo Rare primary hyperaldosteronism semapv:UnspecifiedMatching +MONDO:0015901 obsolete rare inherited hyperlipidemia Orphanet:181422 MONDO:equivalentTo Rare hyperlipidemia semapv:UnspecifiedMatching +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism Orphanet:181441 MONDO:equivalentTo Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0015910 obsolete rare constitutional hemolytic anemia Orphanet:182043 MONDO:equivalentTo Rare constitutional hemolytic anemia semapv:UnspecifiedMatching +MONDO:0015911 obsolete rare acquired hemolytic anemia Orphanet:182047 MONDO:equivalentTo Rare acquired hemolytic anemia semapv:UnspecifiedMatching +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin Orphanet:182054 MONDO:equivalentTo Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching +MONDO:0015915 obsolete cerebellar malformation Orphanet:182061 MONDO:equivalentTo Cerebellar malformation semapv:UnspecifiedMatching +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease Orphanet:182064 MONDO:equivalentTo Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching +MONDO:0015918 obsolete rare neurodegenerative disease Orphanet:182070 MONDO:equivalentTo Rare neurodegenerative disease semapv:UnspecifiedMatching +MONDO:0015921 obsolete ARX-related epileptic encephalopathy Orphanet:182079 MONDO:equivalentTo ARX-related epileptic encephalopathy semapv:UnspecifiedMatching +MONDO:0015922 obsolete channelopathy with epilepsy Orphanet:182083 MONDO:equivalentTo Channelopathy with epilepsy semapv:UnspecifiedMatching +MONDO:0015930 obsolete respiratory malformation Orphanet:182111 MONDO:equivalentTo Respiratory malformation semapv:UnspecifiedMatching +MONDO:0015931 obsolete rare urogenital tumor Orphanet:182114 MONDO:equivalentTo Rare urogenital tumor semapv:UnspecifiedMatching +MONDO:0015940 obsolete rare rheumatologic disease Orphanet:182231 MONDO:equivalentTo Rare rheumatologic disease semapv:UnspecifiedMatching +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer Orphanet:183422 MONDO:equivalentTo Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching +MONDO:0015946 obsolete rare genetic epidermal disorder Orphanet:183426 MONDO:equivalentTo Genetic epidermal disorder semapv:UnspecifiedMatching +MONDO:0015948 obsolete rare genetic skin vascular disorder Orphanet:183478 MONDO:equivalentTo Genetic skin vascular disorder semapv:UnspecifiedMatching +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder Orphanet:183484 MONDO:equivalentTo Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching +MONDO:0015950 obsolete inherited skin tumor Orphanet:183487 MONDO:equivalentTo Genetic skin tumor or hamartoma semapv:UnspecifiedMatching +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease Orphanet:183503 MONDO:equivalentTo Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching +MONDO:0015954 obsolete rare genetic headache disorder Orphanet:183509 MONDO:equivalentTo Rare genetic headache semapv:UnspecifiedMatching +MONDO:0015955 obsolete rare genetic epilepsy Orphanet:183512 MONDO:equivalentTo Rare genetic epilepsy semapv:UnspecifiedMatching +MONDO:0015957 obsolete rare genetic movement disorder Orphanet:183521 MONDO:equivalentTo Rare genetic movement disorder semapv:UnspecifiedMatching +MONDO:0015958 obsolete rare genetic bone disease Orphanet:183524 MONDO:equivalentTo Rare genetic bone disease semapv:UnspecifiedMatching +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature Orphanet:183527 MONDO:equivalentTo Genetic bone tumor semapv:UnspecifiedMatching +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis Orphanet:183530 MONDO:equivalentTo Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching +MONDO:0015961 obsolete hereditary head and neck malformation Orphanet:183583 MONDO:equivalentTo Genetic head and neck malformation semapv:UnspecifiedMatching +MONDO:0015963 obsolete inherited renal tumor Orphanet:183595 MONDO:equivalentTo Genetic renal tumor semapv:UnspecifiedMatching +MONDO:0015966 obsolete hereditary eye tumor Orphanet:183619 MONDO:equivalentTo Genetic eye tumor semapv:UnspecifiedMatching +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease Orphanet:183628 MONDO:equivalentTo Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching +MONDO:0015969 obsolete rare genetic thyroid disease Orphanet:183631 MONDO:equivalentTo Rare genetic thyroid disease semapv:UnspecifiedMatching +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder Orphanet:183634 MONDO:equivalentTo Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching +MONDO:0015971 obsolete rare genetic adrenal disease Orphanet:183637 MONDO:equivalentTo Rare genetic adrenal disease semapv:UnspecifiedMatching +MONDO:0015972 obsolete rare constitutional anemia Orphanet:183651 MONDO:equivalentTo Rare constitutional anemia semapv:UnspecifiedMatching +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases Orphanet:183731 MONDO:equivalentTo Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching +MONDO:0015981 obsolete inherited gynecological tumor Orphanet:183734 MONDO:equivalentTo Genetic gynecological tumor semapv:UnspecifiedMatching +MONDO:0015982 obsolete rare genetic intellectual disability Orphanet:183757 MONDO:equivalentTo Rare genetic intellectual disability semapv:UnspecifiedMatching +MONDO:0015983 obsolete rare genetic syndromic intellectual disability Orphanet:183763 MONDO:equivalentTo Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching +MONDO:0015984 obsolete rare genetic immune disease Orphanet:183770 MONDO:equivalentTo Rare genetic immune disease semapv:UnspecifiedMatching +MONDO:0016054 obsolete cerebral malformation Orphanet:199633 MONDO:equivalentTo Non-syndromic cerebral malformation semapv:UnspecifiedMatching +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature Orphanet:199639 MONDO:equivalentTo Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin Orphanet:202940 MONDO:equivalentTo Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching +MONDO:0016104 obsolete infectious disease with peripheral neuropathy Orphanet:206613 MONDO:equivalentTo Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016109 obsolete autosomal recessive distal myopathy Orphanet:206653 MONDO:equivalentTo Autosomal recessive distal myopathy semapv:UnspecifiedMatching +MONDO:0016110 obsolete non-dystrophic myopathy Orphanet:206656 MONDO:equivalentTo Non-dystrophic myopathy semapv:UnspecifiedMatching +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood Orphanet:206704 MONDO:equivalentTo Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood Orphanet:206707 MONDO:equivalentTo Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy Orphanet:206710 MONDO:equivalentTo Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching +MONDO:0016118 obsolete muscular glycogenosis Orphanet:206959 MONDO:equivalentTo Muscular glycogenosis semapv:UnspecifiedMatching +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly Orphanet:207012 MONDO:equivalentTo Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy Orphanet:207015 MONDO:equivalentTo Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy Orphanet:207018 MONDO:equivalentTo Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy Orphanet:207021 MONDO:equivalentTo Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy Orphanet:207025 MONDO:equivalentTo Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy Orphanet:207038 MONDO:equivalentTo Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy Orphanet:207046 MONDO:equivalentTo Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 Orphanet:207098 MONDO:equivalentTo Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching +MONDO:0016152 obsolete qualitative or quantitative defects of calpain Orphanet:207104 MONDO:equivalentTo Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin Orphanet:207110 MONDO:equivalentTo Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin Orphanet:207122 MONDO:equivalentTo Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy Orphanet:208974 MONDO:equivalentTo Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching +MONDO:0016170 obsolete chronic polyradiculoneuropathy Orphanet:208978 MONDO:equivalentTo Chronic polyradiculoneuropathy semapv:UnspecifiedMatching +MONDO:0016172 obsolete acquired sensory ganglionopathy Orphanet:208984 MONDO:equivalentTo Acquired sensory ganglionopathy semapv:UnspecifiedMatching +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy Orphanet:209007 MONDO:equivalentTo Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy Orphanet:209010 MONDO:equivalentTo Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy Orphanet:209013 MONDO:equivalentTo Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy Orphanet:209016 MONDO:equivalentTo Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy Orphanet:209019 MONDO:equivalentTo Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase Orphanet:209024 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like Orphanet:209027 MONDO:equivalentTo Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching +MONDO:0016196 obsolete qualitative or quantitative defects of emerin Orphanet:209188 MONDO:equivalentTo Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Orphanet:209203 MONDO:equivalentTo Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching +MONDO:0016221 obsolete temporomandibular joint anomaly Orphanet:210581 MONDO:equivalentTo Temporomandibular joint anomaly semapv:UnspecifiedMatching +MONDO:0016224 obsolete autosomal dominant proximal spinal muscular atrophy Orphanet:211037 MONDO:equivalentTo Autosomal dominant proximal spinal muscular atrophy semapv:UnspecifiedMatching +MONDO:0016228 obsolete rare vascular tumor Orphanet:211237 MONDO:equivalentTo Rare vascular tumor semapv:UnspecifiedMatching +MONDO:0016229 obsolete hereditary vascular anomaly Orphanet:211240 MONDO:equivalentTo Genetic vascular anomaly semapv:UnspecifiedMatching +MONDO:0016230 obsolete simple vascular malformation Orphanet:211243 MONDO:equivalentTo Simple vascular malformation semapv:UnspecifiedMatching +MONDO:0016232 obsolete rare venous malformation Orphanet:211252 MONDO:equivalentTo Rare venous malformation semapv:UnspecifiedMatching +MONDO:0016233 obsolete rare lymphatic system malformation Orphanet:211255 MONDO:equivalentTo Rare lymphatic system anomaly semapv:UnspecifiedMatching +MONDO:0016235 obsolete complex vascular malformation with associated anomalies Orphanet:211277 MONDO:equivalentTo Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching +MONDO:0016252 obsolete rare uterine cancer Orphanet:213564 MONDO:equivalentTo Rare uterine cancer semapv:UnspecifiedMatching +MONDO:0016253 obsolete rare cancer of corpus uteri Orphanet:213569 MONDO:equivalentTo Rare cancer of corpus uteri semapv:UnspecifiedMatching +MONDO:0016274 obsolete rare cancer of cervix uteri Orphanet:213761 MONDO:equivalentTo Rare cancer of cervix uteri semapv:UnspecifiedMatching +MONDO:0016320 obsolete rare hereditary thrombophilia Orphanet:217454 MONDO:equivalentTo Rare hereditary thrombophilia semapv:UnspecifiedMatching +MONDO:0016343 obsolete unclassified cardiomyopathy Orphanet:217678 MONDO:equivalentTo Unclassified cardiomyopathy semapv:UnspecifiedMatching +MONDO:0016347 obsolete rare cardiac rhythm disease Orphanet:218436 MONDO:equivalentTo Rare cardiac rhythm disease semapv:UnspecifiedMatching +MONDO:0016348 obsolete non-genetic cardiac rhythm disease Orphanet:218439 MONDO:equivalentTo Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching +MONDO:0016375 obsolete acquired peripheral movement disorder Orphanet:221114 MONDO:equivalentTo Acquired peripheral movement disorder semapv:UnspecifiedMatching +MONDO:0016397 obsolete lysosomal disease with epilepsy Orphanet:225681 MONDO:equivalentTo Lysosomal disease with epilepsy semapv:UnspecifiedMatching +MONDO:0016398 obsolete peroxisomal disease with epilepsy Orphanet:225686 MONDO:equivalentTo Peroxisomal disease with epilepsy semapv:UnspecifiedMatching +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy Orphanet:225689 MONDO:equivalentTo Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy Orphanet:225692 MONDO:equivalentTo Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching +MONDO:0016401 obsolete energy metabolism disorder with epilepsy Orphanet:225696 MONDO:equivalentTo Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching +MONDO:0016402 obsolete mitochondrial disease with epilepsy Orphanet:225700 MONDO:equivalentTo Mitochondrial disease with epilepsy semapv:UnspecifiedMatching +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy Orphanet:225703 MONDO:equivalentTo Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy Orphanet:225707 MONDO:equivalentTo Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy Orphanet:225710 MONDO:equivalentTo Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching +MONDO:0016406 obsolete other metabolic disease with epilepsy Orphanet:225713 MONDO:equivalentTo Other metabolic disease with epilepsy semapv:UnspecifiedMatching +MONDO:0016409 obsolete primary congenital hypothyroidism Orphanet:226295 MONDO:equivalentTo Primary congenital hypothyroidism semapv:UnspecifiedMatching +MONDO:0016428 obsolete multiple sclerosis variant Orphanet:228145 MONDO:equivalentTo Multiple sclerosis variant semapv:UnspecifiedMatching +MONDO:0016434 obsolete acquired dermis elastic tissue disorder Orphanet:228218 MONDO:equivalentTo Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue Orphanet:228221 MONDO:equivalentTo Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue Orphanet:228224 MONDO:equivalentTo Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching +MONDO:0016493 obsolete variant of Guillain-Barre syndrome Orphanet:231413 MONDO:equivalentTo Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome Orphanet:231416 MONDO:equivalentTo Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome Orphanet:231419 MONDO:equivalentTo Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism Orphanet:231637 MONDO:equivalentTo Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism Orphanet:231641 MONDO:equivalentTo Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching +MONDO:0016517 obsolete rare genetic vascular disease Orphanet:233655 MONDO:equivalentTo Rare genetic vascular disease semapv:UnspecifiedMatching +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma Orphanet:2338 MONDO:equivalentTo Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0016524 obsolete congenital vascular bone syndrome Orphanet:235832 MONDO:equivalentTo Congenital vascular bone syndrome semapv:UnspecifiedMatching +MONDO:0016565 obsolete syndromic genetic obesity Orphanet:240371 MONDO:equivalentTo Syndromic obesity semapv:UnspecifiedMatching +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Orphanet:2443 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis Orphanet:244305 MONDO:equivalentTo Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching +MONDO:0016592 obsolete non-hereditary degenerative ataxia Orphanet:247239 MONDO:equivalentTo Non-hereditary degenerative ataxia semapv:UnspecifiedMatching +MONDO:0016623 obsolete rare deficiency anemia Orphanet:248293 MONDO:equivalentTo Rare deficiency anemia semapv:UnspecifiedMatching +MONDO:0016627 obsolete rare hemorrhagic disorder Orphanet:248308 MONDO:equivalentTo Rare hemorrhagic disorder semapv:UnspecifiedMatching +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect Orphanet:248315 MONDO:equivalentTo Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly Orphanet:248326 MONDO:equivalentTo Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly Orphanet:248347 MONDO:equivalentTo Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect Orphanet:248358 MONDO:equivalentTo Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect Orphanet:248361 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect Orphanet:248365 MONDO:equivalentTo Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly Orphanet:248368 MONDO:equivalentTo Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly Orphanet:248401 MONDO:equivalentTo Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly Orphanet:248404 MONDO:equivalentTo Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching +MONDO:0016645 obsolete rare neoplastic disease Orphanet:250908 MONDO:equivalentTo Rare neoplastic disease semapv:UnspecifiedMatching +MONDO:0016678 obsolete maternal disease-related embryofetopathy Orphanet:251535 MONDO:equivalentTo Maternal disease-related embryofetopathy semapv:UnspecifiedMatching +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue Orphanet:251558 MONDO:equivalentTo Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin Orphanet:251668 MONDO:equivalentTo Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue Orphanet:251852 MONDO:equivalentTo Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue Orphanet:251905 MONDO:equivalentTo Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching +MONDO:0016726 obsolete neuronal tumor Orphanet:251924 MONDO:equivalentTo Neuronal tumor semapv:UnspecifiedMatching +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system Orphanet:252028 MONDO:equivalentTo Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome Orphanet:252190 MONDO:equivalentTo Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching +MONDO:0016767 obsolete cutaneous lichen planus Orphanet:254370 MONDO:equivalentTo Rare cutaneous lichen planus semapv:UnspecifiedMatching +MONDO:0016768 obsolete rare mucosal lichen planus Orphanet:254373 MONDO:equivalentTo Rare mucosal lichen planus semapv:UnspecifiedMatching +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload Orphanet:254704 MONDO:equivalentTo Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Orphanet:254758 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Orphanet:254767 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Orphanet:254776 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy Orphanet:254788 MONDO:equivalentTo Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism Orphanet:254822 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder Orphanet:254837 MONDO:equivalentTo Unspecified mitochondrial disorder semapv:UnspecifiedMatching +MONDO:0016804 obsolete exercise intolerance with lactic acidosis Orphanet:254843 MONDO:equivalentTo Exercise intolerance with lactic acidosis semapv:UnspecifiedMatching +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder Orphanet:254846 MONDO:equivalentTo Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching +MONDO:0016998 obsolete complex chromosomal rearrangement Orphanet:263708 MONDO:equivalentTo Complex chromosomal rearrangement semapv:UnspecifiedMatching +MONDO:0016999 obsolete X chromosome number anomaly Orphanet:263714 MONDO:equivalentTo X chromosome number anomaly semapv:UnspecifiedMatching +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype Orphanet:263717 MONDO:equivalentTo X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype Orphanet:263720 MONDO:equivalentTo X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching +MONDO:0017002 obsolete polysomy of X chromosome Orphanet:263723 MONDO:equivalentTo Polysomy of X chromosome semapv:UnspecifiedMatching +MONDO:0017005 obsolete Y chromosome number anomaly Orphanet:263746 MONDO:equivalentTo Y chromosome number anomaly semapv:UnspecifiedMatching +MONDO:0017006 obsolete X and Y chromosomal anomaly Orphanet:263749 MONDO:equivalentTo X and Y chromosomal anomaly semapv:UnspecifiedMatching +MONDO:0017011 obsolete uniparental disomy of chromosome X Orphanet:263793 MONDO:equivalentTo Uniparental disomy of chromosome X semapv:UnspecifiedMatching +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column Orphanet:268843 MONDO:equivalentTo Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching +MONDO:0017090 obsolete midline cerebral malformation Orphanet:268926 MONDO:equivalentTo Midline cerebral malformation semapv:UnspecifiedMatching +MONDO:0017104 obsolete central nervous system cystic malformation Orphanet:269194 MONDO:equivalentTo Central nervous system cystic malformation semapv:UnspecifiedMatching +MONDO:0017114 obsolete global cerebellar malformation Orphanet:269224 MONDO:equivalentTo Global cerebellar malformation semapv:UnspecifiedMatching +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature Orphanet:269523 MONDO:equivalentTo Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature Orphanet:269531 MONDO:equivalentTo Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature Orphanet:269546 MONDO:equivalentTo Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature Orphanet:269573 MONDO:equivalentTo Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching +MONDO:0017127 obsolete inherited soft tissue tumor Orphanet:271832 MONDO:equivalentTo Genetic soft tissue tumor semapv:UnspecifiedMatching +MONDO:0017128 obsolete inherited digestive tract tumor Orphanet:271835 MONDO:equivalentTo Genetic digestive tract tumor semapv:UnspecifiedMatching +MONDO:0017129 obsolete inherited cardiac tumor Orphanet:271841 MONDO:equivalentTo Genetic cardiac tumor semapv:UnspecifiedMatching +MONDO:0017130 obsolete genetic urogenital tumor Orphanet:271844 MONDO:equivalentTo Genetic urogenital tumor semapv:UnspecifiedMatching +MONDO:0017131 obsolete hereditary cardiac anomaly Orphanet:271853 MONDO:equivalentTo Genetic cardiac anomaly semapv:UnspecifiedMatching +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia Orphanet:275729 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect Orphanet:275736 MONDO:equivalentTo Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching +MONDO:0017143 obsolete genetic infertility Orphanet:275742 MONDO:equivalentTo Genetic infertility semapv:UnspecifiedMatching +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism Orphanet:275844 MONDO:equivalentTo Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature Orphanet:275853 MONDO:equivalentTo Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching +MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization Orphanet:275938 MONDO:equivalentTo Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching +MONDO:0017166 obsolete rare tumor of salivary glands Orphanet:276142 MONDO:equivalentTo Rare tumor of salivary glands semapv:UnspecifiedMatching +MONDO:0017234 obsolete inherited prion disease Orphanet:280400 MONDO:equivalentTo Inherited human prion disease semapv:UnspecifiedMatching +MONDO:0017259 obsolete systemic diseases with anterior uveitis Orphanet:280926 MONDO:equivalentTo Systemic diseases with anterior uveitis semapv:UnspecifiedMatching +MONDO:0017260 obsolete systemic diseases with posterior uveitis Orphanet:280930 MONDO:equivalentTo Systemic diseases with posterior uveitis semapv:UnspecifiedMatching +MONDO:0017261 obsolete systemic diseases with panuveitis Orphanet:280933 MONDO:equivalentTo Systemic diseases with panuveitis semapv:UnspecifiedMatching +MONDO:0017262 obsolete inherited non-syndromic ichthyosis Orphanet:281082 MONDO:equivalentTo Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching +MONDO:0017270 obsolete autosomal ichthyosis syndrome Orphanet:281217 MONDO:equivalentTo Autosomal ichthyosis syndrome semapv:UnspecifiedMatching +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities Orphanet:281222 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs Orphanet:281238 MONDO:equivalentTo Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course Orphanet:281241 MONDO:equivalentTo Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching +MONDO:0017302 obsolete qualitative or quantitative defects of troponin Orphanet:284786 MONDO:equivalentTo Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection Orphanet:285014 MONDO:equivalentTo Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching +MONDO:0017368 obsolete systemic disease with skin involvement Orphanet:290836 MONDO:equivalentTo Systemic disease with skin involvement semapv:UnspecifiedMatching +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency Orphanet:290839 MONDO:equivalentTo Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement Orphanet:290842 MONDO:equivalentTo Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching +MONDO:0017371 obsolete rare head and neck tumor Orphanet:290849 MONDO:equivalentTo Rare head and neck tumor semapv:UnspecifiedMatching +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria Orphanet:293355 MONDO:equivalentTo Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching +MONDO:0017414 obsolete rare nevus Orphanet:294057 MONDO:equivalentTo Rare nevus semapv:UnspecifiedMatching +MONDO:0017420 obsolete intercalary limb defects Orphanet:294927 MONDO:equivalentTo Intercalary limb defects semapv:UnspecifiedMatching +MONDO:0017428 obsolete congenital deformities of fingers Orphanet:294947 MONDO:equivalentTo Congenital deformities of fingers semapv:UnspecifiedMatching +MONDO:0017429 obsolete joint formation defects Orphanet:294949 MONDO:equivalentTo Joint formation defects semapv:UnspecifiedMatching +MONDO:0017430 obsolete non-syndromic congenital joint dislocations Orphanet:294951 MONDO:equivalentTo Congenital joint dislocations semapv:UnspecifiedMatching +MONDO:0017431 obsolete non-syndromic limb overgrowth Orphanet:294953 MONDO:equivalentTo Non syndromic limb overgrowth semapv:UnspecifiedMatching +MONDO:0017432 obsolete syndrome with limb reduction defects Orphanet:294955 MONDO:equivalentTo Syndrome with limb reduction defects semapv:UnspecifiedMatching +MONDO:0017633 obsolete rare intoxication due to medical products Orphanet:306640 MONDO:equivalentTo Rare intoxication due to medical products semapv:UnspecifiedMatching +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease Orphanet:306666 MONDO:equivalentTo Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication Orphanet:306679 MONDO:equivalentTo Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease Orphanet:306695 MONDO:equivalentTo Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder Orphanet:306708 MONDO:equivalentTo Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching +MONDO:0017644 obsolete rare tremor disorder Orphanet:306712 MONDO:equivalentTo Rare tremor disorder semapv:UnspecifiedMatching +MONDO:0017645 obsolete rare choreic movement disorder Orphanet:306715 MONDO:equivalentTo Rare choreic movement disorder semapv:UnspecifiedMatching +MONDO:0017646 obsolete neurodegenerative disease with chorea Orphanet:306719 MONDO:equivalentTo Neurodegenerative disease with chorea semapv:UnspecifiedMatching +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea Orphanet:306727 MONDO:equivalentTo Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching +MONDO:0017650 obsolete rare myoclonus Orphanet:306747 MONDO:equivalentTo Rare myoclonus semapv:UnspecifiedMatching +MONDO:0017651 obsolete primary myoclonus Orphanet:306750 MONDO:equivalentTo Primary myoclonus semapv:UnspecifiedMatching +MONDO:0017652 obsolete rare disease with myoclonus as a major feature Orphanet:306753 MONDO:equivalentTo Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature Orphanet:306756 MONDO:equivalentTo Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature Orphanet:306759 MONDO:equivalentTo Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching +MONDO:0017656 obsolete motor stereotypies Orphanet:306765 MONDO:equivalentTo Motor stereotypies semapv:UnspecifiedMatching +MONDO:0017657 obsolete rare paroxysmal movement disorder Orphanet:306768 MONDO:equivalentTo Rare paroxysmal movement disorder semapv:UnspecifiedMatching +MONDO:0017660 obsolete rare genetic parkinsonian disorder Orphanet:307052 MONDO:equivalentTo Rare genetic parkinsonian disorder semapv:UnspecifiedMatching +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease Orphanet:307055 MONDO:equivalentTo Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease Orphanet:307058 MONDO:equivalentTo Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching +MONDO:0017663 obsolete inherited tremor disorder Orphanet:307061 MONDO:equivalentTo Rare genetic tremor disorder semapv:UnspecifiedMatching +MONDO:0017663 obsolete inherited tremor disorder Orphanet:307064 MONDO:equivalentTo Rare genetic myoclonus semapv:UnspecifiedMatching +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature Orphanet:307067 MONDO:equivalentTo Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma Orphanet:307148 MONDO:equivalentTo Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature Orphanet:307711 MONDO:equivalentTo Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma Orphanet:307773 MONDO:equivalentTo Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Orphanet:307804 MONDO:equivalentTo Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma Orphanet:307846 MONDO:equivalentTo Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature Orphanet:307871 MONDO:equivalentTo Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0017676 obsolete marginal papular palmoplantar keratoderma Orphanet:307995 MONDO:equivalentTo Marginal papular palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature Orphanet:308023 MONDO:equivalentTo Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308031 MONDO:equivalentTo Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Orphanet:308041 MONDO:equivalentTo Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency Orphanet:308520 MONDO:equivalentTo Glycogen storage disease due to glycogen synthase deficiency semapv:UnspecifiedMatching +MONDO:0017710 obsolete congenital systemic veins anomaly Orphanet:3091 MONDO:equivalentTo Congenital systemic veins anomaly semapv:UnspecifiedMatching +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder Orphanet:309133 MONDO:equivalentTo Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Orphanet:309136 MONDO:equivalentTo Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis Orphanet:309450 MONDO:equivalentTo Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis Orphanet:309458 MONDO:equivalentTo Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis Orphanet:309463 MONDO:equivalentTo Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis Orphanet:309469 MONDO:equivalentTo Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport Orphanet:309833 MONDO:equivalentTo Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching +MONDO:0017797 obsolete rare odontologic tumor Orphanet:314425 MONDO:equivalentTo Rare odontogenic tumor semapv:UnspecifiedMatching +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature Orphanet:314749 MONDO:equivalentTo Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching +MONDO:0017841 obsolete autoimmune disease with skin involvement Orphanet:315350 MONDO:equivalentTo Autoimmune disease with skin involvement semapv:UnspecifiedMatching +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome Orphanet:319328 MONDO:equivalentTo Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Orphanet:319535 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319539 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Orphanet:319543 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching +MONDO:0017912 obsolete X-linked pure spastic paraplegia Orphanet:320332 MONDO:equivalentTo X-linked pure spastic paraplegia semapv:UnspecifiedMatching +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia Orphanet:320342 MONDO:equivalentTo Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia Orphanet:320346 MONDO:equivalentTo Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia Orphanet:320350 MONDO:equivalentTo Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome Orphanet:324927 MONDO:equivalentTo Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome Orphanet:324930 MONDO:equivalentTo Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome Orphanet:324933 MONDO:equivalentTo Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching +MONDO:0017957 obsolete unclassified autoinflammatory syndrome Orphanet:324936 MONDO:equivalentTo Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0017961 obsolete 46,XX disorder of gonadal development Orphanet:325055 MONDO:equivalentTo 46,XX disorder of gonadal development semapv:UnspecifiedMatching +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess Orphanet:325061 MONDO:equivalentTo 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen Orphanet:325093 MONDO:equivalentTo 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen Orphanet:325099 MONDO:equivalentTo 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development Orphanet:325109 MONDO:equivalentTo Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching +MONDO:0017966 obsolete 46,XY disorder of gonadal development Orphanet:325118 MONDO:equivalentTo 46,XY disorder of gonadal development semapv:UnspecifiedMatching +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin Orphanet:325351 MONDO:equivalentTo 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching +MONDO:0017976 obsolete disorder of sex development of gynecological interest Orphanet:325620 MONDO:equivalentTo Difference of sex development of gynecological interest semapv:UnspecifiedMatching +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest Orphanet:325632 MONDO:equivalentTo 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest Orphanet:325638 MONDO:equivalentTo Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity Orphanet:331193 MONDO:equivalentTo Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching +MONDO:0018035 obsolete syndrome with combined immunodeficiency Orphanet:331217 MONDO:equivalentTo Syndrome with combined immunodeficiency semapv:UnspecifiedMatching +MONDO:0018036 obsolete immunodeficiency due to absence of thymus Orphanet:331220 MONDO:equivalentTo Immunodeficiency due to absence of thymus semapv:UnspecifiedMatching +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Orphanet:331232 MONDO:equivalentTo Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects Orphanet:331244 MONDO:equivalentTo Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Orphanet:352306 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Orphanet:352309 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Orphanet:352312 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis Orphanet:35696 MONDO:equivalentTo Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching +MONDO:0018185 obsolete congenital anomaly of the great veins Orphanet:363189 MONDO:equivalentTo Congenital anomaly of the great veins semapv:UnspecifiedMatching +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome Orphanet:363294 MONDO:equivalentTo Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching +MONDO:0018188 obsolete hereditary intestinal polyposis Orphanet:363314 MONDO:equivalentTo Genetic intestinal polyposis semapv:UnspecifiedMatching +MONDO:0018191 obsolete tumor of testis and paratestis Orphanet:363472 MONDO:equivalentTo Tumor of testis and paratestis semapv:UnspecifiedMatching +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus Orphanet:363567 MONDO:equivalentTo Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Orphanet:364531 MONDO:equivalentTo Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching +MONDO:0018232 obsolete primary bone dysplasia with micromelia Orphanet:364536 MONDO:equivalentTo Primary bone dysplasia with micromelia semapv:UnspecifiedMatching +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature Orphanet:364568 MONDO:equivalentTo Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature Orphanet:364571 MONDO:equivalentTo Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching +MONDO:0018239 obsolete aggrecan-related bone disorder Orphanet:364817 MONDO:equivalentTo Aggrecan-related bone disorder semapv:UnspecifiedMatching +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome Orphanet:369886 MONDO:equivalentTo Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching +MONDO:0018262 obsolete fetal anticonvulsant syndrome Orphanet:370068 MONDO:equivalentTo Fetal anticonvulsant syndrome semapv:UnspecifiedMatching +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation Orphanet:370106 MONDO:equivalentTo Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan Orphanet:371040 MONDO:equivalentTo Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement Orphanet:371047 MONDO:equivalentTo Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature Orphanet:371071 MONDO:equivalentTo Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement Orphanet:371157 MONDO:equivalentTo Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature Orphanet:371183 MONDO:equivalentTo Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement Orphanet:371188 MONDO:equivalentTo Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder Orphanet:371195 MONDO:equivalentTo Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement Orphanet:371200 MONDO:equivalentTo Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature Orphanet:371207 MONDO:equivalentTo Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature Orphanet:371212 MONDO:equivalentTo Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly Orphanet:371235 MONDO:equivalentTo Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching +MONDO:0018299 obsolete sphingolipidosis with epilepsy Orphanet:371442 MONDO:equivalentTo Sphingolipidosis with epilepsy semapv:UnspecifiedMatching +MONDO:0018318 obsolete disorder of asparagine metabolism Orphanet:391381 MONDO:equivalentTo Disorder of asparagine metabolism semapv:UnspecifiedMatching +MONDO:0018329 obsolete persistent combined dystonia Orphanet:391711 MONDO:equivalentTo Persistent combined dystonia semapv:UnspecifiedMatching +MONDO:0018368 primary peritoneal serous/papillary carcinoma Orphanet:398980 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis Orphanet:399185 MONDO:equivalentTo Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching +MONDO:0018384 obsolete avascular necrosis of genetic origin Orphanet:399388 MONDO:equivalentTo Avascular necrosis of genetic origin semapv:UnspecifiedMatching +MONDO:0018385 obsolete osteochondrosis of genetic origin Orphanet:399391 MONDO:equivalentTo Osteochondrosis of genetic origin semapv:UnspecifiedMatching +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder Orphanet:399572 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching +MONDO:0018387 obsolete rare male infertility due to adrenal disorder Orphanet:399584 MONDO:equivalentTo Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder Orphanet:399685 MONDO:equivalentTo Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder Orphanet:399764 MONDO:equivalentTo Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching +MONDO:0018390 obsolete male infertility due to sperm disorder Orphanet:399771 MONDO:equivalentTo Male infertility due to sperm disorder semapv:UnspecifiedMatching +MONDO:0018391 obsolete male infertility with spermatogenesis disorder Orphanet:399775 MONDO:equivalentTo Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation Orphanet:399786 MONDO:equivalentTo Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching +MONDO:0018395 obsolete male infertility due to sperm motility disorder Orphanet:399813 MONDO:equivalentTo Male infertility due to sperm motility disorder semapv:UnspecifiedMatching +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia Orphanet:399824 MONDO:equivalentTo Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder Orphanet:399831 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399839 MONDO:equivalentTo Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder Orphanet:399849 MONDO:equivalentTo Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function Orphanet:399853 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis Orphanet:399877 MONDO:equivalentTo Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching +MONDO:0018403 obsolete female infertility due to an implantation defect Orphanet:399882 MONDO:equivalentTo Rare female infertility due to an implantation defect semapv:UnspecifiedMatching +MONDO:0018404 obsolete rare genetic male infertility Orphanet:399980 MONDO:equivalentTo Rare genetic male infertility semapv:UnspecifiedMatching +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Orphanet:399983 MONDO:equivalentTo Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin Orphanet:399994 MONDO:equivalentTo Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin Orphanet:399998 MONDO:equivalentTo Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia Orphanet:400003 MONDO:equivalentTo Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching +MONDO:0018410 obsolete rare genetic female infertility Orphanet:400008 MONDO:equivalentTo Rare genetic female infertility semapv:UnspecifiedMatching +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin Orphanet:400011 MONDO:equivalentTo Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin Orphanet:400018 MONDO:equivalentTo Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin Orphanet:400022 MONDO:equivalentTo Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin Orphanet:400025 MONDO:equivalentTo Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching +MONDO:0018444 obsolete female infertility due to fertilization defect Orphanet:404469 MONDO:equivalentTo Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy Orphanet:404538 MONDO:equivalentTo X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching +MONDO:0018454 obsolete dysostosis of genetic origin Orphanet:404568 MONDO:equivalentTo Dysostosis of genetic origin semapv:UnspecifiedMatching +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature Orphanet:404571 MONDO:equivalentTo Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching +MONDO:0018457 obsolete rare genetic bone development disorder Orphanet:404584 MONDO:equivalentTo Rare genetic bone development disorder semapv:UnspecifiedMatching +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder Orphanet:420755 MONDO:equivalentTo Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum Orphanet:423655 MONDO:equivalentTo ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching +MONDO:0018497 obsolete rare autonomic nervous system disorder Orphanet:423662 MONDO:equivalentTo Rare autonomic nervous system disorder semapv:UnspecifiedMatching +MONDO:0018501 obsolete rare carcinoma of stomach Orphanet:423771 MONDO:equivalentTo Rare carcinoma of stomach semapv:UnspecifiedMatching +MONDO:0018520 obsolete rare epithelial tumor of pancreas Orphanet:424033 MONDO:equivalentTo Rare epithelial tumor of pancreas semapv:UnspecifiedMatching +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 Orphanet:424925 MONDO:equivalentTo Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome Orphanet:425003 MONDO:equivalentTo Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection Orphanet:431156 MONDO:equivalentTo Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies Orphanet:431263 MONDO:equivalentTo Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Orphanet:431320 MONDO:equivalentTo Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder Orphanet:434786 MONDO:equivalentTo Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching +MONDO:0018558 obsolete syndrome with wooly hair Orphanet:434809 MONDO:equivalentTo Syndrome with woolly hair semapv:UnspecifiedMatching +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation Orphanet:435603 MONDO:equivalentTo Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching +MONDO:0018579 obsolete disorder of ketone body transport Orphanet:438072 MONDO:equivalentTo Disorder of keton body transport semapv:UnspecifiedMatching +MONDO:0018609 obsolete syndromic hereditary optic neuropathy Orphanet:441434 MONDO:equivalentTo Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching +MONDO:0018652 obsolete biological anomaly without phenotypic characterization Orphanet:447874 MONDO:equivalentTo Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching +MONDO:0018700 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy Orphanet:457062 MONDO:equivalentTo Pseudohypoparathyroidism without Albright hereditary osteodystrophy semapv:UnspecifiedMatching +MONDO:0018701 obsolete congenital nemaline myopathy Orphanet:457074 MONDO:equivalentTo Congenital nemaline myopathy semapv:UnspecifiedMatching +MONDO:0018718 obsolete vascular tumor with associated anomalies Orphanet:458827 MONDO:equivalentTo Vascular tumor with associated anomalies semapv:UnspecifiedMatching +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies Orphanet:458830 MONDO:equivalentTo Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching +MONDO:0018720 obsolete common cystic lymphatic malformation Orphanet:458833 MONDO:equivalentTo Common cystic lymphatic malformation semapv:UnspecifiedMatching +MONDO:0018721 obsolete rare combined vascular malformation Orphanet:458837 MONDO:equivalentTo Rare combined vascular malformation semapv:UnspecifiedMatching +MONDO:0018723 obsolete rare vascular malformation of major vessels Orphanet:458844 MONDO:equivalentTo Rare vascular malformation of major vessels semapv:UnspecifiedMatching +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency Orphanet:459348 MONDO:equivalentTo Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching +MONDO:0018728 obsolete rare genetic capillary malformation Orphanet:459526 MONDO:equivalentTo Rare genetic capillary malformation semapv:UnspecifiedMatching +MONDO:0018729 obsolete genetic vascular tumor Orphanet:459543 MONDO:equivalentTo Rare genetic vascular tumor semapv:UnspecifiedMatching +MONDO:0018730 obsolete rare genetic venous malformation Orphanet:459548 MONDO:equivalentTo Rare genetic venous malformation semapv:UnspecifiedMatching +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:459787 MONDO:equivalentTo Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease Orphanet:464764 MONDO:equivalentTo Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching +MONDO:0018745 obsolete superficial pemphigus Orphanet:46485 MONDO:equivalentTo Superficial pemphigus semapv:UnspecifiedMatching +MONDO:0018753 obsolete rare disease with malignant hyperthermia Orphanet:466658 MONDO:equivalentTo Rare disease with malignant hyperthermia semapv:UnspecifiedMatching +MONDO:0018771 obsolete congenital anomaly of ventricular septum Orphanet:474347 MONDO:equivalentTo Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy Orphanet:476109 MONDO:equivalentTo Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome Orphanet:476403 MONDO:equivalentTo Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching +MONDO:0018782 obsolete type 1 interferonopathy Orphanet:477647 MONDO:equivalentTo Type 1 interferonopathy semapv:UnspecifiedMatching +MONDO:0018787 obsolete genetic cerebral small vessel disease Orphanet:477754 MONDO:equivalentTo Genetic cerebral small vessel disease semapv:UnspecifiedMatching +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease Orphanet:477759 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy Orphanet:477762 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy Orphanet:477765 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching +MONDO:0018791 obsolete Moyomoya angiopathy Orphanet:477768 MONDO:equivalentTo Moyamoya angiopathy semapv:UnspecifiedMatching +MONDO:0018792 obsolete Moyamoya syndrome Orphanet:477771 MONDO:equivalentTo Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching +MONDO:0018796 obsolete isolated constitutional thrombocytopenia Orphanet:477797 MONDO:equivalentTo Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching +MONDO:0018797 obsolete genetic cardiac malformation Orphanet:477805 MONDO:equivalentTo Genetic cardiac malformation semapv:UnspecifiedMatching +MONDO:0018798 obsolete other genetic dermis disorder Orphanet:477808 MONDO:equivalentTo Other genetic dermis disorder semapv:UnspecifiedMatching +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease Orphanet:482072 MONDO:equivalentTo HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching +MONDO:0018833 obsolete rare idiopathic macular telangiectasia Orphanet:482092 MONDO:equivalentTo Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching +MONDO:0018880 obsolete rare teratologic disease Orphanet:52662 MONDO:equivalentTo Rare teratologic disease semapv:UnspecifiedMatching +MONDO:0018928 obsolete rare hepatic disease Orphanet:57146 MONDO:equivalentTo Rare hepatic disease semapv:UnspecifiedMatching +MONDO:0019038 obsolete rare maxillo-facial surgical disease Orphanet:68329 MONDO:equivalentTo Rare maxillo-facial surgical disease semapv:UnspecifiedMatching +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect Orphanet:68334 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching +MONDO:0019041 obsolete rare genetic inherited tumor Orphanet:68336 MONDO:equivalentTo Rare genetic tumor semapv:UnspecifiedMatching +MONDO:0019043 obsolete rare genetic skin disease Orphanet:68346 MONDO:equivalentTo Rare genetic skin disease semapv:UnspecifiedMatching +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues Orphanet:68347 MONDO:equivalentTo Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching +MONDO:0019047 obsolete rare deafness Orphanet:68361 MONDO:equivalentTo Rare deafness semapv:UnspecifiedMatching +MONDO:0019048 obsolete rare vascular disease Orphanet:68362 MONDO:equivalentTo Rare vascular disease semapv:UnspecifiedMatching +MONDO:0019049 obsolete rare dystonia Orphanet:68363 MONDO:equivalentTo Rare dystonia semapv:UnspecifiedMatching +MONDO:0019058 obsolete neurometabolic disease Orphanet:68385 MONDO:equivalentTo Neurometabolic disease semapv:UnspecifiedMatching +MONDO:0019059 obsolete rare parkinsonian disorder Orphanet:68402 MONDO:equivalentTo Rare parkinsonian disorder semapv:UnspecifiedMatching +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly Orphanet:68415 MONDO:equivalentTo Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching +MONDO:0019062 obsolete rare infectious disease Orphanet:68416 MONDO:equivalentTo Rare infectious disease semapv:UnspecifiedMatching +MONDO:0019063 obsolete vascular anomaly Orphanet:68419 MONDO:equivalentTo Vascular anomaly or angioma semapv:UnspecifiedMatching +MONDO:0019066 obsolete syndrome with brachydactyly Orphanet:69028 MONDO:equivalentTo Dysostosis with brachydactyly semapv:UnspecifiedMatching +MONDO:0019096 obsolete rare pulmonary hypertension Orphanet:71198 MONDO:equivalentTo Rare pulmonary hypertension semapv:UnspecifiedMatching +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly Orphanet:71202 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching +MONDO:0019099 obsolete rare soft tissue tumor Orphanet:71209 MONDO:equivalentTo Rare soft tissue tumor semapv:UnspecifiedMatching +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease Orphanet:71281 MONDO:equivalentTo Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching +MONDO:0019117 obsolete genetic nervous system disorder Orphanet:71859 MONDO:equivalentTo Rare genetic neurological disorder semapv:UnspecifiedMatching +MONDO:0019183 obsolete inherited odontologic disease Orphanet:77830 MONDO:equivalentTo Rare genetic odontologic disease semapv:UnspecifiedMatching +MONDO:0019252 obsolete other metabolic disease with skin involvement Orphanet:79217 MONDO:equivalentTo Other metabolic disease with skin involvement semapv:UnspecifiedMatching +MONDO:0019271 obsolete acrokeratoderma Orphanet:79356 MONDO:equivalentTo Acrokeratoderma semapv:UnspecifiedMatching +MONDO:0019274 obsolete other epidermal disorder Orphanet:79359 MONDO:equivalentTo Other epidermal disorder semapv:UnspecifiedMatching +MONDO:0019275 obsolete other genetic epidermal disease Orphanet:79360 MONDO:equivalentTo Other genetic epidermal disease semapv:UnspecifiedMatching +MONDO:0019277 obsolete epidermal appendage anomaly Orphanet:79362 MONDO:equivalentTo Epidermal appendage anomaly semapv:UnspecifiedMatching +MONDO:0019281 obsolete isolated genetic hair shaft abnormality Orphanet:79366 MONDO:equivalentTo Isolated hair shaft abnormality semapv:UnspecifiedMatching +MONDO:0019282 obsolete syndromic hair shaft abnormality Orphanet:79367 MONDO:equivalentTo Syndromic hair shaft abnormality semapv:UnspecifiedMatching +MONDO:0019285 obsolete syndromic nail anomaly Orphanet:79370 MONDO:equivalentTo Syndromic nail anomaly semapv:UnspecifiedMatching +MONDO:0019286 obsolete sebaceous gland anomaly Orphanet:79372 MONDO:equivalentTo Sebaceous gland anomaly semapv:UnspecifiedMatching +MONDO:0019292 obsolete dermis elastic tissue disorder Orphanet:79378 MONDO:equivalentTo Dermis elastic tissue disorder semapv:UnspecifiedMatching +MONDO:0019298 obsolete rare urticaria Orphanet:79384 MONDO:equivalentTo Rare urticaria semapv:UnspecifiedMatching +MONDO:0019299 obsolete unclassified genetic skin disorder Orphanet:79385 MONDO:equivalentTo Unclassified genetic skin disorder semapv:UnspecifiedMatching +MONDO:0019300 obsolete rare skin tumor or hamartoma Orphanet:79386 MONDO:equivalentTo Rare skin tumor or hamartoma semapv:UnspecifiedMatching +MONDO:0019301 obsolete metabolic disease with skin involvement Orphanet:79387 MONDO:equivalentTo Metabolic disease with skin involvement semapv:UnspecifiedMatching +MONDO:0019304 obsolete rare photodermatosis Orphanet:79390 MONDO:equivalentTo Rare photodermatosis semapv:UnspecifiedMatching +MONDO:0019305 obsolete immune deficiency with skin involvement Orphanet:79391 MONDO:equivalentTo Immune deficiency with skin involvement semapv:UnspecifiedMatching +MONDO:0019491 obsolete rare intellectual disability Orphanet:87277 MONDO:equivalentTo Rare intellectual disability semapv:UnspecifiedMatching +MONDO:0019513 obsolete esophageal malformation Orphanet:88993 MONDO:equivalentTo Esophageal malformation semapv:UnspecifiedMatching +MONDO:0019515 obsolete rare dementia Orphanet:89043 MONDO:equivalentTo Rare dementia semapv:UnspecifiedMatching +MONDO:0019519 obsolete rare skin disease Orphanet:89826 MONDO:equivalentTo Rare skin disease semapv:UnspecifiedMatching +MONDO:0019546 obsolete other acquired skin disease Orphanet:90077 MONDO:equivalentTo Other acquired skin disease semapv:UnspecifiedMatching +MONDO:0019589 obsolete syndromic genetic hearing loss Orphanet:90642 MONDO:equivalentTo Syndromic genetic deafness semapv:UnspecifiedMatching +MONDO:0019590 obsolete rare endocrine growth disease Orphanet:90692 MONDO:equivalentTo Rare endocrine growth disease semapv:UnspecifiedMatching +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess Orphanet:90776 MONDO:equivalentTo 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching +MONDO:0019599 obsolete primary lipodystrophy Orphanet:90970 MONDO:equivalentTo Primary lipodystrophy semapv:UnspecifiedMatching +MONDO:0019602 obsolete other inborn metabolic disease Orphanet:91088 MONDO:equivalentTo Other metabolic disease semapv:UnspecifiedMatching +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen Orphanet:91144 MONDO:equivalentTo 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching +MONDO:0019619 obsolete duplication of the esophagus Orphanet:91357 MONDO:equivalentTo Duplication of the esophagus semapv:UnspecifiedMatching +MONDO:0019684 obsolete rare bone disease Orphanet:93419 MONDO:equivalentTo Rare bone disease semapv:UnspecifiedMatching +MONDO:0019688 obsolete sulfation-related bone disorder Orphanet:93423 MONDO:equivalentTo Sulfation-related bone disorder semapv:UnspecifiedMatching +MONDO:0019689 obsolete perlecan-related bone disorder Orphanet:93424 MONDO:equivalentTo Perlecan-related bone disorder semapv:UnspecifiedMatching +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia Orphanet:93429 MONDO:equivalentTo Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density Orphanet:93446 MONDO:equivalentTo Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization Orphanet:93447 MONDO:equivalentTo Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect Orphanet:93451 MONDO:equivalentTo Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching +MONDO:0019712 obsolete patellar dysostosis Orphanet:93455 MONDO:equivalentTo Patellar dysostosis semapv:UnspecifiedMatching +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 MONDO:equivalentTo Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching +MONDO:0019717 obsolete chromosomal disease with overgrowth Orphanet:93461 MONDO:equivalentTo Chromosomal disease with overgrowth semapv:UnspecifiedMatching +MONDO:0019718 obsolete lethal chondrodysplasia Orphanet:93465 MONDO:equivalentTo Lethal chondrodysplasia semapv:UnspecifiedMatching +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease Orphanet:93593 MONDO:equivalentTo Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching +MONDO:0019744 obsolete rare renal tubular disease Orphanet:93603 MONDO:equivalentTo Rare renal tubular disease semapv:UnspecifiedMatching +MONDO:0019747 obsolete hematological disorder with renal involvement Orphanet:93614 MONDO:equivalentTo Hematological disorder with renal involvement semapv:UnspecifiedMatching +MONDO:0019748 obsolete rare cause of hypertension Orphanet:93618 MONDO:equivalentTo Rare cause of hypertension semapv:UnspecifiedMatching +MONDO:0019749 obsolete rare renal tumor Orphanet:93619 MONDO:equivalentTo Rare renal tumor semapv:UnspecifiedMatching +MONDO:0019750 obsolete rare renal disease Orphanet:93626 MONDO:equivalentTo Rare renal disease semapv:UnspecifiedMatching +MONDO:0019800 obsolete chronic hepatic porphyria Orphanet:95161 MONDO:equivalentTo Chronic hepatic porphyria semapv:UnspecifiedMatching +MONDO:0019822 obsolete arterial duct anomaly Orphanet:95485 MONDO:equivalentTo Arterial duct anomaly semapv:UnspecifiedMatching +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency Orphanet:95495 MONDO:equivalentTo Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin Orphanet:95503 MONDO:equivalentTo Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin Orphanet:95505 MONDO:equivalentTo Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin Orphanet:95611 MONDO:equivalentTo Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease Orphanet:95617 MONDO:equivalentTo Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease Orphanet:95618 MONDO:equivalentTo Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly Orphanet:95714 MONDO:equivalentTo Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism Orphanet:95718 MONDO:equivalentTo Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching +MONDO:0019936 obsolete rare otorhinolaryngological malformation Orphanet:96333 MONDO:equivalentTo Rare otorhinolaryngological malformation semapv:UnspecifiedMatching +MONDO:0019937 obsolete rare gynecologic or obstetric disease Orphanet:96344 MONDO:equivalentTo Rare gynecologic or obstetric disease semapv:UnspecifiedMatching +MONDO:0019965 obsolete rare benign ovarian tumor Orphanet:97293 MONDO:equivalentTo Rare benign ovarian tumor semapv:UnspecifiedMatching +MONDO:0019996 obsolete rare cardiac disease Orphanet:97929 MONDO:equivalentTo Rare cardiac disease semapv:UnspecifiedMatching +MONDO:0019997 obsolete rare gastroenterologic disease Orphanet:97935 MONDO:equivalentTo Rare gastroenterologic disease semapv:UnspecifiedMatching +MONDO:0019998 obsolete gastroduodenal malformation Orphanet:97944 MONDO:equivalentTo Gastroduodenal malformation semapv:UnspecifiedMatching +MONDO:0020000 obsolete rare respiratory disease Orphanet:97955 MONDO:equivalentTo Rare respiratory disease semapv:UnspecifiedMatching +MONDO:0020002 obsolete rare surgical thoracic disease Orphanet:97962 MONDO:equivalentTo Rare surgical thoracic disease semapv:UnspecifiedMatching +MONDO:0020003 obsolete rare surgical cardiac disease Orphanet:97965 MONDO:equivalentTo Rare surgical cardiac disease semapv:UnspecifiedMatching +MONDO:0020004 obsolete rare eye disease Orphanet:97966 MONDO:equivalentTo Rare ophthalmic disorder semapv:UnspecifiedMatching +MONDO:0020005 obsolete rare endocrine disease Orphanet:97978 MONDO:equivalentTo Rare endocrine disease semapv:UnspecifiedMatching +MONDO:0020008 obsolete rare immune disease Orphanet:98004 MONDO:equivalentTo Rare immune disease semapv:UnspecifiedMatching +MONDO:0020009 obsolete rare neurologic disease Orphanet:98006 MONDO:equivalentTo Rare neurologic disease semapv:UnspecifiedMatching +MONDO:0020011 obsolete rare headache disorder Orphanet:98022 MONDO:equivalentTo Rare headache semapv:UnspecifiedMatching +MONDO:0020013 obsolete rare odontologic disease Orphanet:98026 MONDO:equivalentTo Rare odontologic disease semapv:UnspecifiedMatching +MONDO:0020014 obsolete rare disease with odontological manifestation Orphanet:98027 MONDO:equivalentTo Rare disease with odontological manifestation semapv:UnspecifiedMatching +MONDO:0020015 obsolete rare circulatory system disease Orphanet:98028 MONDO:equivalentTo Rare circulatory system disease semapv:UnspecifiedMatching +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement Orphanet:98033 MONDO:equivalentTo Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching +MONDO:0020017 obsolete rare otorhinolaryngologic disease Orphanet:98036 MONDO:equivalentTo Rare otorhinolaryngologic disease semapv:UnspecifiedMatching +MONDO:0020018 obsolete cranial malformation Orphanet:98038 MONDO:equivalentTo Cranial malformation semapv:UnspecifiedMatching +MONDO:0020019 obsolete digestive tract malformation Orphanet:98039 MONDO:equivalentTo Digestive tract malformation semapv:UnspecifiedMatching +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:98041 MONDO:equivalentTo Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation Orphanet:98043 MONDO:equivalentTo Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching +MONDO:0020023 obsolete respiratory or mediastinal malformation Orphanet:98045 MONDO:equivalentTo Respiratory or mediastinal malformation semapv:UnspecifiedMatching +MONDO:0020024 obsolete rare infertility Orphanet:98047 MONDO:equivalentTo Rare infertility semapv:UnspecifiedMatching +MONDO:0020025 obsolete rare male infertility Orphanet:98048 MONDO:equivalentTo Rare male infertility semapv:UnspecifiedMatching +MONDO:0020026 obsolete rare female infertility Orphanet:98049 MONDO:equivalentTo Rare female infertility semapv:UnspecifiedMatching +MONDO:0020027 obsolete rare allergic disease Orphanet:98050 MONDO:equivalentTo Rare allergic disease semapv:UnspecifiedMatching +MONDO:0020028 obsolete rare allergic respiratory disease Orphanet:98052 MONDO:equivalentTo Rare allergic respiratory disease semapv:UnspecifiedMatching +MONDO:0020029 obsolete rare genetic cardiac disease Orphanet:98054 MONDO:equivalentTo Rare genetic cardiac disease semapv:UnspecifiedMatching +MONDO:0020030 obsolete rare genetic renal disease Orphanet:98056 MONDO:equivalentTo Rare genetic renal disease semapv:UnspecifiedMatching +MONDO:0020031 obsolete rare tumor Orphanet:98057 MONDO:equivalentTo Rare tumor semapv:UnspecifiedMatching +MONDO:0020032 obsolete rare urinary tract tumor Orphanet:98058 MONDO:equivalentTo Rare urinary tract tumor semapv:UnspecifiedMatching +MONDO:0020033 obsolete rare digestive tumor Orphanet:98059 MONDO:equivalentTo Rare digestive tumor semapv:UnspecifiedMatching +MONDO:0020034 obsolete rare respiratory tract neoplasm Orphanet:98060 MONDO:equivalentTo Rare respiratory tumor semapv:UnspecifiedMatching +MONDO:0020035 obsolete rare otorhinolaryngologic tumor Orphanet:98061 MONDO:equivalentTo Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching +MONDO:0020036 obsolete rare nervous system tumor Orphanet:98062 MONDO:equivalentTo Rare nervous system tumor semapv:UnspecifiedMatching +MONDO:0020037 obsolete rare gynecological tumor Orphanet:98063 MONDO:equivalentTo Rare gynecological tumor semapv:UnspecifiedMatching +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest Orphanet:98074 MONDO:equivalentTo Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess Orphanet:98078 MONDO:equivalentTo 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development Orphanet:98087 MONDO:equivalentTo Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching +MONDO:0020050 obsolete autosomal trisomy Orphanet:98130 MONDO:equivalentTo Autosomal trisomy semapv:UnspecifiedMatching +MONDO:0020051 obsolete total autosomal trisomy Orphanet:98131 MONDO:equivalentTo Total autosomal trisomy semapv:UnspecifiedMatching +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy Orphanet:98132 MONDO:equivalentTo Partial autosomal duplication/triplication semapv:UnspecifiedMatching +MONDO:0020053 obsolete total autosomal monosomy Orphanet:98141 MONDO:equivalentTo Total autosomal monosomy semapv:UnspecifiedMatching +MONDO:0020055 obsolete autosomal uniparental disomy Orphanet:98152 MONDO:equivalentTo Autosomal uniparental disomy semapv:UnspecifiedMatching +MONDO:0020059 obsolete gonosome number anomaly Orphanet:98156 MONDO:equivalentTo Sex-chromosome number anomaly semapv:UnspecifiedMatching +MONDO:0020060 obsolete gonosome structural anomaly Orphanet:98157 MONDO:equivalentTo Sex-chromosome structural anomaly semapv:UnspecifiedMatching +MONDO:0020062 obsolete chromosome X structural anomaly Orphanet:98159 MONDO:equivalentTo Chromosome X structural anomaly semapv:UnspecifiedMatching +MONDO:0020063 obsolete malformation syndrome with hamartosis Orphanet:98196 MONDO:equivalentTo Malformation syndrome with hamartosis semapv:UnspecifiedMatching +MONDO:0020069 obsolete chronic encephalitis Orphanet:98255 MONDO:equivalentTo Chronic encephalitis semapv:UnspecifiedMatching +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis Orphanet:98313 MONDO:equivalentTo Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching +MONDO:0020091 obsolete male infertility due to obstructive azoospermia Orphanet:98343 MONDO:equivalentTo Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma Orphanet:98349 MONDO:equivalentTo Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Orphanet:98352 MONDO:equivalentTo Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Orphanet:98353 MONDO:equivalentTo Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma Orphanet:98356 MONDO:equivalentTo Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature Orphanet:98357 MONDO:equivalentTo Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder Orphanet:98360 MONDO:equivalentTo Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching +MONDO:0020100 obsolete rare hemolytic anemia Orphanet:98363 MONDO:equivalentTo Rare hemolytic anemia semapv:UnspecifiedMatching +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect Orphanet:98364 MONDO:equivalentTo Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder Orphanet:98369 MONDO:equivalentTo Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Orphanet:98370 MONDO:equivalentTo Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Orphanet:98396 MONDO:equivalentTo Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder Orphanet:98408 MONDO:equivalentTo Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching +MONDO:0020116 obsolete rare blood coagulation disease Orphanet:98429 MONDO:equivalentTo Rare coagulation disorder semapv:UnspecifiedMatching +MONDO:0020125 obsolete acquired neuromuscular junction disease Orphanet:98494 MONDO:equivalentTo Acquired neuromuscular junction disease semapv:UnspecifiedMatching +MONDO:0020126 obsolete rare peripheral neuropathy Orphanet:98496 MONDO:equivalentTo Rare peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0020130 obsolete malformation of the cerebellar vermis Orphanet:98514 MONDO:equivalentTo Malformation of the cerebellar vermis semapv:UnspecifiedMatching +MONDO:0020131 obsolete malformation of the cerebellar hemispheres Orphanet:98516 MONDO:equivalentTo Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching +MONDO:0020132 obsolete cranial nerve and nuclear aplasia Orphanet:98518 MONDO:equivalentTo Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching +MONDO:0020133 obsolete posterior fossa malformation Orphanet:98519 MONDO:equivalentTo Posterior fossa malformation semapv:UnspecifiedMatching +MONDO:0020136 obsolete neurodegenerative disease with dementia Orphanet:98534 MONDO:equivalentTo Neurodegenerative disease with dementia semapv:UnspecifiedMatching +MONDO:0020137 obsolete frontotemporal degeneration with dementia Orphanet:98535 MONDO:equivalentTo Frontotemporal degeneration with dementia semapv:UnspecifiedMatching +MONDO:0020138 obsolete ataxia with dementia Orphanet:98538 MONDO:equivalentTo Ataxia with dementia semapv:UnspecifiedMatching +MONDO:0020139 obsolete early-onset ataxia with dementia Orphanet:98539 MONDO:equivalentTo Early-onset ataxia with dementia semapv:UnspecifiedMatching +MONDO:0020140 obsolete late-onset ataxia with dementia Orphanet:98540 MONDO:equivalentTo Late-onset ataxia with dementia semapv:UnspecifiedMatching +MONDO:0020141 obsolete infectious disease with dementia Orphanet:98542 MONDO:equivalentTo Infectious disease with dementia semapv:UnspecifiedMatching +MONDO:0020142 obsolete metabolic disease with dementia Orphanet:98543 MONDO:equivalentTo Metabolic disease with dementia semapv:UnspecifiedMatching +MONDO:0020144 obsolete cerebrovascular dementia Orphanet:98549 MONDO:equivalentTo Rare cerebrovascular dementia semapv:UnspecifiedMatching +MONDO:0020148 obsolete syndromic aniridia Orphanet:98557 MONDO:equivalentTo Syndromic aniridia semapv:UnspecifiedMatching +MONDO:0020151 obsolete rare palpebral disease Orphanet:98560 MONDO:equivalentTo Rare palpebral disorder semapv:UnspecifiedMatching +MONDO:0020152 obsolete rare eyelid malformation Orphanet:98561 MONDO:equivalentTo Congenital malformation of the eyelid semapv:UnspecifiedMatching +MONDO:0020154 obsolete microblepharon-ablephara syndrome Orphanet:98563 MONDO:equivalentTo Microblepharon-ablephara syndrome semapv:UnspecifiedMatching +MONDO:0020155 obsolete eyelid border anomaly Orphanet:98564 MONDO:equivalentTo Eyelid border anomaly semapv:UnspecifiedMatching +MONDO:0020156 obsolete syndromic ankyloblepharon Orphanet:98565 MONDO:equivalentTo Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching +MONDO:0020157 obsolete syndromic palpebral coloboma Orphanet:98566 MONDO:equivalentTo Syndromic eyelid coloboma semapv:UnspecifiedMatching +MONDO:0020158 obsolete eyelids malposition disorder Orphanet:98567 MONDO:equivalentTo Rare eyelid malposition disorder semapv:UnspecifiedMatching +MONDO:0020162 obsolete secondary ectropion Orphanet:98571 MONDO:equivalentTo Secondary ectropion semapv:UnspecifiedMatching +MONDO:0020165 obsolete syndromic epicanthus Orphanet:98574 MONDO:equivalentTo Syndromic epicanthus semapv:UnspecifiedMatching +MONDO:0020167 obsolete malposition of external canthus Orphanet:98576 MONDO:equivalentTo Syndromic outer canthal malposition semapv:UnspecifiedMatching +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly Orphanet:98594 MONDO:equivalentTo Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching +MONDO:0020192 obsolete rare lacrimal system disease Orphanet:98602 MONDO:equivalentTo Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly Orphanet:98605 MONDO:equivalentTo Lacrimal drainage system anomaly semapv:UnspecifiedMatching +MONDO:0020197 obsolete EEC syndrome and related syndrome Orphanet:98609 MONDO:equivalentTo EEC syndrome and related disorders semapv:UnspecifiedMatching +MONDO:0020198 obsolete rare conjunctival disease Orphanet:98610 MONDO:equivalentTo Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching +MONDO:0020206 obsolete rare refraction anomaly Orphanet:98618 MONDO:equivalentTo Rare refraction anomaly semapv:UnspecifiedMatching +MONDO:0020209 obsolete rare hyperopia and astigmatism Orphanet:98621 MONDO:equivalentTo Rare hyperopia and astigmatism semapv:UnspecifiedMatching +MONDO:0020210 obsolete syndromic hyperopia Orphanet:98622 MONDO:equivalentTo Syndromic hyperopia semapv:UnspecifiedMatching +MONDO:0020211 obsolete syndromic keratoconus Orphanet:98623 MONDO:equivalentTo Syndromic keratoconus semapv:UnspecifiedMatching +MONDO:0020215 obsolete syndromic corneal dystrophy Orphanet:98628 MONDO:equivalentTo Syndromic corneal dystrophy semapv:UnspecifiedMatching +MONDO:0020216 obsolete secondary dysgenetic glaucoma Orphanet:98631 MONDO:equivalentTo Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching +MONDO:0020219 obsolete corneogoniodysgenesis Orphanet:98635 MONDO:equivalentTo Corneodysgenesis semapv:UnspecifiedMatching +MONDO:0020222 obsolete rare disease with glaucoma as a major feature Orphanet:98638 MONDO:equivalentTo Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching +MONDO:0020223 obsolete lens and zonula anomaly Orphanet:98639 MONDO:equivalentTo Rare lens disease semapv:UnspecifiedMatching +MONDO:0020224 obsolete rare cataract Orphanet:98640 MONDO:equivalentTo Rare disorder with lens opacification semapv:UnspecifiedMatching +MONDO:0020225 obsolete syndromic cataract Orphanet:98641 MONDO:equivalentTo Syndromic cataract semapv:UnspecifiedMatching +MONDO:0020226 obsolete chromosomal anomaly with cataract Orphanet:98642 MONDO:equivalentTo Chromosomal anomaly with cataract semapv:UnspecifiedMatching +MONDO:0020228 obsolete cataract associated with a metabolic disease Orphanet:98644 MONDO:equivalentTo Metabolic disease with cataract semapv:UnspecifiedMatching +MONDO:0020230 obsolete renal disease with cataract Orphanet:98646 MONDO:equivalentTo Renal disease with cataract semapv:UnspecifiedMatching +MONDO:0020232 obsolete musculoskeletal disease with cataract Orphanet:98648 MONDO:equivalentTo Musculoskeletal disease with cataract semapv:UnspecifiedMatching +MONDO:0020233 obsolete dentocutaneous disease with cataract Orphanet:98649 MONDO:equivalentTo Dentocutaneous disease with cataract semapv:UnspecifiedMatching +MONDO:0020234 obsolete craniofacial anomaly with cataract Orphanet:98650 MONDO:equivalentTo Craniofacial anomaly with cataract semapv:UnspecifiedMatching +MONDO:0020235 obsolete lens size anomaly Orphanet:98652 MONDO:equivalentTo Lens size anomaly semapv:UnspecifiedMatching +MONDO:0020236 obsolete lens position anomaly Orphanet:98653 MONDO:equivalentTo Lens position anomaly semapv:UnspecifiedMatching +MONDO:0020237 obsolete lens shape anomaly Orphanet:98655 MONDO:equivalentTo Lens shape anomaly semapv:UnspecifiedMatching +MONDO:0020240 obsolete syndromic retinitis pigmentosa Orphanet:98661 MONDO:equivalentTo Syndromic rod-cone dystrophy semapv:UnspecifiedMatching +MONDO:0020251 obsolete rare strabismus and restriction syndrome Orphanet:98681 MONDO:equivalentTo Rare disorder with strabismus semapv:UnspecifiedMatching +MONDO:0020253 obsolete syndrome with a symptomatic strabismus Orphanet:98683 MONDO:equivalentTo Syndromic disorder with strabismus semapv:UnspecifiedMatching +MONDO:0020254 obsolete craniostenosis associated with a strabismus Orphanet:98684 MONDO:equivalentTo Craniostenosis with strabismus semapv:UnspecifiedMatching +MONDO:0020284 obsolete heart position anomaly Orphanet:98716 MONDO:equivalentTo Heart position anomaly semapv:UnspecifiedMatching +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly Orphanet:98717 MONDO:equivalentTo Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching +MONDO:0020286 obsolete aortic malformation Orphanet:98718 MONDO:equivalentTo Aortic malformation semapv:UnspecifiedMatching +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly Orphanet:98719 MONDO:equivalentTo Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching +MONDO:0020288 obsolete atrioventricular valve anomaly Orphanet:98720 MONDO:equivalentTo Atrioventricular valve anomaly semapv:UnspecifiedMatching +MONDO:0020293 obsolete ascending aorta anomaly Orphanet:98725 MONDO:equivalentTo Ascending aorta anomaly semapv:UnspecifiedMatching +MONDO:0020294 obsolete atrial defect and interatrial communication Orphanet:98727 MONDO:equivalentTo Rare atrial defect and interatrial communication semapv:UnspecifiedMatching +MONDO:0020339 obsolete X-linked complex spastic paraplegia Orphanet:98888 MONDO:equivalentTo X-linked complex spastic paraplegia semapv:UnspecifiedMatching +MONDO:0020343 obsolete alpha-crystallinopathy Orphanet:98910 MONDO:equivalentTo Alpha-crystallinopathy semapv:UnspecifiedMatching +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency Orphanet:101960 MONDO:equivalentTo Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching +MONDO:0021027 obsolete genetic hair anomaly Orphanet:183450 MONDO:equivalentTo Genetic hair anomaly semapv:UnspecifiedMatching +MONDO:0021028 obsolete genetic nail anomaly Orphanet:183454 MONDO:equivalentTo Genetic nail anomaly semapv:UnspecifiedMatching +MONDO:0021034 obsolete hereditary alopecia Orphanet:481771 MONDO:equivalentTo Genetic alopecia semapv:UnspecifiedMatching +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia Orphanet:276058 MONDO:equivalentTo Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching +MONDO:0021141 acquired Orphanet:409941 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0021198 obsolete rare genetic disease Orphanet:98053 MONDO:equivalentTo Rare genetic disease semapv:UnspecifiedMatching +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Orphanet:156168 MONDO:equivalentTo Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene Orphanet:156174 MONDO:equivalentTo Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene Orphanet:156177 MONDO:equivalentTo Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene Orphanet:156180 MONDO:equivalentTo Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene Orphanet:156183 MONDO:equivalentTo Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching +MONDO:0022409 obsolete nephropathy-associated ciliopathy Orphanet:156162 MONDO:equivalentTo Renal ciliopathy semapv:UnspecifiedMatching +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease Orphanet:138041 MONDO:equivalentTo Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly Orphanet:138047 MONDO:equivalentTo Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies Orphanet:138050 MONDO:equivalentTo Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease Orphanet:138055 MONDO:equivalentTo Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching +MONDO:0024471 obsolete non-inflammatory vasculopathy Orphanet:496924 MONDO:equivalentTo Non-inflammatory vasculopathy semapv:UnspecifiedMatching +MONDO:0024987 obsolete genetic urogenital tract malformation Orphanet:156622 MONDO:equivalentTo Genetic urogenital tract malformation semapv:UnspecifiedMatching +MONDO:0025511 obsolete inherited neuroendocrine tumor Orphanet:271847 MONDO:equivalentTo Genetic neuroendocrine tumor semapv:UnspecifiedMatching +MONDO:0026141 obsolete genetic urticaria Orphanet:182734 MONDO:equivalentTo Genetic urticaria semapv:UnspecifiedMatching +MONDO:0026150 obsolete genetic erythrokeratoderma Orphanet:183438 MONDO:equivalentTo Genetic erythrokeratoderma semapv:UnspecifiedMatching +MONDO:0026151 obsolete genetic acrokeratoderma Orphanet:183441 MONDO:equivalentTo Genetic acrokeratoderma semapv:UnspecifiedMatching +MONDO:0026152 obsolete genetic porokeratosis Orphanet:183444 MONDO:equivalentTo Genetic porokeratosis semapv:UnspecifiedMatching +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin Orphanet:183463 MONDO:equivalentTo Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching +MONDO:0026160 obsolete genetic dermis disorder Orphanet:183472 MONDO:equivalentTo Genetic dermis disorder semapv:UnspecifiedMatching +MONDO:0026166 obsolete genetic immune deficiency with skin involvement Orphanet:183494 MONDO:equivalentTo Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching +MONDO:0026167 obsolete genetic neuromuscular disease Orphanet:183497 MONDO:equivalentTo Genetic neuromuscular disease semapv:UnspecifiedMatching +MONDO:0026170 obsolete genetic central nervous system malformation Orphanet:183506 MONDO:equivalentTo Genetic central nervous system malformation semapv:UnspecifiedMatching +MONDO:0026173 obsolete rare genetic medullar disease Orphanet:183515 MONDO:equivalentTo Rare genetic medullar disease semapv:UnspecifiedMatching +MONDO:0026180 obsolete genetic congenital limb malformation Orphanet:183536 MONDO:equivalentTo Genetic congenital limb malformation semapv:UnspecifiedMatching +MONDO:0026181 obsolete genetic renal or urinary tract malformation Orphanet:183539 MONDO:equivalentTo Genetic renal or urinary tract malformation semapv:UnspecifiedMatching +MONDO:0026182 obsolete genetic cranial malformation Orphanet:183542 MONDO:equivalentTo Genetic cranial malformation semapv:UnspecifiedMatching +MONDO:0026183 obsolete genetic digestive tract malformation Orphanet:183545 MONDO:equivalentTo Genetic digestive tract malformation semapv:UnspecifiedMatching +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:183548 MONDO:equivalentTo Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation Orphanet:183554 MONDO:equivalentTo Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching +MONDO:0026186 obsolete genetic developmental defect of the eye Orphanet:183557 MONDO:equivalentTo Genetic developmental defect of the eye semapv:UnspecifiedMatching +MONDO:0026187 obsolete genetic malformation syndrome with short stature Orphanet:183570 MONDO:equivalentTo Genetic malformation syndrome with short stature semapv:UnspecifiedMatching +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome Orphanet:183573 MONDO:equivalentTo Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome Orphanet:183576 MONDO:equivalentTo Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component Orphanet:183580 MONDO:equivalentTo Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching +MONDO:0026192 obsolete genetic glomerular disease Orphanet:183586 MONDO:equivalentTo Genetic glomerular disease semapv:UnspecifiedMatching +MONDO:0026193 obsolete genetic thrombotic microangiopathy Orphanet:183589 MONDO:equivalentTo Genetic thrombotic microangiopathy semapv:UnspecifiedMatching +MONDO:0026203 obsolete genetic respiratory malformation Orphanet:183622 MONDO:equivalentTo Genetic respiratory malformation semapv:UnspecifiedMatching +MONDO:0026209 obsolete genetic polyendocrinopathy Orphanet:183643 MONDO:equivalentTo Genetic polyendocrinopathy semapv:UnspecifiedMatching +MONDO:0027652 5-fluorouracil toxicity Orphanet:240839 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027653 abacavir toxicity Orphanet:240841 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027655 allopurinol toxicity Orphanet:240845 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027664 cisplatin toxicity Orphanet:240863 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027666 codeine toxicity Orphanet:240867 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027667 efavirenz toxicity Orphanet:240869 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027668 flucloxacilline toxicity Orphanet:240871 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027675 irinotecan toxicity Orphanet:240885 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027677 isoniazid toxicity Orphanet:240887 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027687 raltegravir toxicity Orphanet:240905 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027696 voriconazole toxicity Orphanet:240921 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization Orphanet:250808 MONDO:equivalentTo Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching +MONDO:0027751 obsolete serpinopathy with loss of serpin function Orphanet:250811 MONDO:equivalentTo Serpinopathy with loss of serpin function semapv:UnspecifiedMatching +MONDO:0027929 obsolete genetic polycythemia Orphanet:250165 MONDO:equivalentTo Genetic polycythemia semapv:UnspecifiedMatching +MONDO:0028569 obsolete genetic interstitial lung disease Orphanet:264992 MONDO:equivalentTo Genetic interstitial lung disease semapv:UnspecifiedMatching +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm Orphanet:481508 MONDO:equivalentTo Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching +MONDO:0028737 obsolete biliary atresia disorder Orphanet:498345 MONDO:equivalentTo Biliary atresia and associated disorders semapv:UnspecifiedMatching +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease Orphanet:271870 MONDO:equivalentTo Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia Orphanet:276061 MONDO:equivalentTo Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood Orphanet:280342 MONDO:equivalentTo Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs Orphanet:281244 MONDO:equivalentTo Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching +MONDO:0029810 obsolete laminopathy with striated muscle involvement Orphanet:300755 MONDO:equivalentTo Laminopathy with striated muscle involvement semapv:UnspecifiedMatching +MONDO:0029811 obsolete laminopathy with peripheral neuropathy Orphanet:300758 MONDO:equivalentTo Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0029812 obsolete laminopathy with lipodystrophy Orphanet:300763 MONDO:equivalentTo Laminopathy with lipodystrophy semapv:UnspecifiedMatching +MONDO:0029813 obsolete laminopathy with premature aging Orphanet:300766 MONDO:equivalentTo Laminopathy with premature aging semapv:UnspecifiedMatching +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues Orphanet:322126 MONDO:equivalentTo Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest Orphanet:325665 MONDO:equivalentTo Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching +MONDO:0031016 obsolete genetic disorder of sex development Orphanet:325690 MONDO:equivalentTo Genetic difference of sex development semapv:UnspecifiedMatching +MONDO:0031689 obsolete genetic progeroid syndrome Orphanet:363245 MONDO:equivalentTo Genetic progeroid syndrome semapv:UnspecifiedMatching +MONDO:0031697 obsolete genetic intractable diarrhea of infancy Orphanet:363300 MONDO:equivalentTo Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption Orphanet:363306 MONDO:equivalentTo Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching +MONDO:0031949 obsolete genetic neurovascular malformation Orphanet:371436 MONDO:equivalentTo Genetic neurovascular malformation semapv:UnspecifiedMatching +MONDO:0031952 obsolete genetic syndromic esophageal malformation Orphanet:371445 MONDO:equivalentTo Genetic syndromic esophageal malformation semapv:UnspecifiedMatching +MONDO:0032011 obsolete biological anomaly Orphanet:377790 MONDO:equivalentTo Biological anomaly semapv:UnspecifiedMatching +MONDO:0032013 obsolete clinical syndrome Orphanet:377792 MONDO:equivalentTo Clinical syndrome semapv:UnspecifiedMatching +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome Orphanet:377793 MONDO:equivalentTo Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399846 MONDO:equivalentTo Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0033056 obsolete genetic facial cleft Orphanet:414726 MONDO:equivalentTo Genetic facial cleft semapv:UnspecifiedMatching +MONDO:0033169 curariform drugs toxicity Orphanet:413693 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0033170 statin toxicity Orphanet:413696 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0033181 phenytoin or carbamazepine toxicity Orphanet:414750 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0033329 obsolete genetic precocious puberty Orphanet:435554 MONDO:equivalentTo Genetic precocious puberty semapv:UnspecifiedMatching +MONDO:0033331 obsolete genetic precocious puberty in female Orphanet:435564 MONDO:equivalentTo Genetic precocious puberty in female semapv:UnspecifiedMatching +MONDO:0033334 obsolete genetic nose and cavum anomaly Orphanet:435606 MONDO:equivalentTo Genetic nose and cavum anomaly semapv:UnspecifiedMatching +MONDO:0033335 obsolete genetic larynx anomaly Orphanet:435609 MONDO:equivalentTo Genetic larynx anomaly semapv:UnspecifiedMatching +MONDO:0033336 obsolete genetic tracheal anomaly Orphanet:435612 MONDO:equivalentTo Genetic tracheal anomaly semapv:UnspecifiedMatching +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies Orphanet:459537 MONDO:equivalentTo Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching +MONDO:0034039 obsolete genetic hemoglobinopathy Orphanet:466066 MONDO:equivalentTo Genetic hemoglobinopathy semapv:UnspecifiedMatching +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure Orphanet:485382 MONDO:equivalentTo Genetic premature ovarian failure semapv:UnspecifiedMatching +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder Orphanet:496916 MONDO:equivalentTo Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching +MONDO:0034661 obsolete syndromic biliary atresia Orphanet:498350 MONDO:equivalentTo Syndromic biliary atresia semapv:UnspecifiedMatching +MONDO:0034667 obsolete longitudinal limb defect Orphanet:498457 MONDO:equivalentTo Longitudinal limb defect semapv:UnspecifiedMatching +MONDO:0034668 obsolete terminal transverse limb defect Orphanet:498461 MONDO:equivalentTo Terminal transverse limb defect semapv:UnspecifiedMatching +MONDO:0034669 obsolete non-syndromic preaxial polydactyly Orphanet:498464 MONDO:equivalentTo Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching +MONDO:0034670 obsolete non-syndromic postaxial polydactyly Orphanet:498467 MONDO:equivalentTo Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching +MONDO:0034671 obsolete non-syndromic complex polydactyly Orphanet:498470 MONDO:equivalentTo Non-syndromic complex polydactyly semapv:UnspecifiedMatching +MONDO:0034733 obsolete cochlear nerve deficiency Orphanet:502318 MONDO:equivalentTo Cochlear nerve deficiency semapv:UnspecifiedMatching +MONDO:0034901 obsolete ATP13A2-related parkinsonism Orphanet:514980 MONDO:equivalentTo ATP13A2-related parkinsonism semapv:UnspecifiedMatching +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system Orphanet:519264 MONDO:equivalentTo Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching +MONDO:0034926 obsolete rare disorder with entropion Orphanet:519270 MONDO:equivalentTo Rare disorder with entropion semapv:UnspecifiedMatching +MONDO:0034931 obsolete rare conjunctivitis Orphanet:519280 MONDO:equivalentTo Rare conjunctivitis semapv:UnspecifiedMatching +MONDO:0034937 obsolete syndromic ectopia lentis Orphanet:519292 MONDO:equivalentTo Syndromic ectopia lentis semapv:UnspecifiedMatching +MONDO:0034943 obsolete isolated vitreoretinopathy Orphanet:519304 MONDO:equivalentTo Isolated vitreoretinopathy semapv:UnspecifiedMatching +MONDO:0034953 obsolete syndromic inherited retinal disorder Orphanet:519325 MONDO:equivalentTo Syndromic inherited retinal disorder semapv:UnspecifiedMatching +MONDO:0034954 obsolete syndromic vitreoretinopathy Orphanet:519327 MONDO:equivalentTo Syndromic vitreoretinopathy semapv:UnspecifiedMatching +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature Orphanet:519341 MONDO:equivalentTo Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement Orphanet:519343 MONDO:equivalentTo Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement Orphanet:519349 MONDO:equivalentTo Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching +MONDO:0034968 obsolete rare ocular motility/alignment disorder Orphanet:519355 MONDO:equivalentTo Rare ocular motility/alignment disorder semapv:UnspecifiedMatching +MONDO:0034977 obsolete isolated microspherophakia Orphanet:519396 MONDO:equivalentTo Isolated microspherophakia semapv:UnspecifiedMatching +MONDO:0035001 obsolete rare disorder of the visual organs Orphanet:520814 MONDO:equivalentTo Rare disorder of the visual organs semapv:UnspecifiedMatching +MONDO:0035002 obsolete isolated inherited retinal disorder Orphanet:520817 MONDO:equivalentTo Isolated inherited retinal disorder semapv:UnspecifiedMatching +MONDO:0035013 obsolete genetic primary orthostatic disorder Orphanet:521232 MONDO:equivalentTo Genetic primary orthostatic disorder semapv:UnspecifiedMatching +MONDO:0035014 obsolete primary orthostatic disorder Orphanet:521236 MONDO:equivalentTo Primary orthostatic disorder semapv:UnspecifiedMatching +MONDO:0035037 obsolete rare genetic disorder of the visual organs Orphanet:522504 MONDO:equivalentTo Rare genetic disorder of the visual organs semapv:UnspecifiedMatching +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin Orphanet:522580 MONDO:equivalentTo Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome Orphanet:530313 MONDO:equivalentTo PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching +MONDO:0035251 obsolete anomalous aortic origin of coronary artery Orphanet:541478 MONDO:equivalentTo Anomalous aortic origin of coronary artery semapv:UnspecifiedMatching +MONDO:0035274 obsolete anomaly of the coronary ostia Orphanet:542822 MONDO:equivalentTo Anomaly of the coronary ostia semapv:UnspecifiedMatching +MONDO:0035328 obsolete rare disorder due to poisoning Orphanet:556508 MONDO:equivalentTo Rare disorder due to poisoning semapv:UnspecifiedMatching +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation Orphanet:565779 MONDO:equivalentTo Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement Orphanet:568041 MONDO:equivalentTo Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement Orphanet:568044 MONDO:equivalentTo Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema Orphanet:568047 MONDO:equivalentTo Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching +MONDO:0035561 obsolete sporadic human prion disease Orphanet:576356 MONDO:equivalentTo Sporadic human prion disease semapv:UnspecifiedMatching +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome Orphanet:589746 MONDO:equivalentTo Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome Orphanet:595216 MONDO:equivalentTo Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement Orphanet:595346 MONDO:equivalentTo Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement Orphanet:595351 MONDO:equivalentTo Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone Orphanet:596426 MONDO:equivalentTo Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching +MONDO:0035786 obsolete non-syndromic cloacal malformation Orphanet:600998 MONDO:equivalentTo Non-syndromic cloacal malformation semapv:UnspecifiedMatching +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome Orphanet:611314 MONDO:equivalentTo Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability Orphanet:611327 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching +MONDO:0035875 ivermectin toxicity Orphanet:574637 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0035876 belinostat toxicity or dose selection Orphanet:574671 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0036025 toxicity to dolutegravir Orphanet:596744 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0037716 obsolete rare genetic deafness Orphanet:96210 MONDO:equivalentTo Rare genetic deafness semapv:UnspecifiedMatching +MONDO:0037860 obsolete rare systemic or rheumatologic disease Orphanet:98023 MONDO:equivalentTo Rare systemic or rheumatologic disease semapv:UnspecifiedMatching +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system Orphanet:98743 MONDO:equivalentTo Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching +MONDO:0038268 obsolete autoimmune neurological channelopathy Orphanet:98750 MONDO:equivalentTo Autoimmune neurological channelopathy semapv:UnspecifiedMatching +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:330206 MONDO:equivalentTo Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching +MONDO:0044636 obsolete rare hyperkinetic movement disorder Orphanet:494457 MONDO:equivalentTo Rare hyperkinetic movement disorder semapv:UnspecifiedMatching +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect Orphanet:497623 MONDO:equivalentTo C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching +MONDO:0800084 obsolete primary bone dysplasia with increased bone density Orphanet:93444 MONDO:equivalentTo Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching +MONDO:0800087 obsolete type 11 collagen-related bone disorder Orphanet:93422 MONDO:equivalentTo Type 11 collagen-related bone disorder semapv:UnspecifiedMatching +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components Orphanet:93450 MONDO:equivalentTo Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching +MONDO:0800090 obsolete ectrodactyly with and without other manifestations Orphanet:498477 MONDO:equivalentTo Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement Orphanet:498448 MONDO:equivalentTo Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy Orphanet:498445 MONDO:equivalentTo Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations Orphanet:498451 MONDO:equivalentTo Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations Orphanet:498454 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect Orphanet:93459 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching +MONDO:0957009 obsolete hereditary posterior fossa malformation Orphanet:269557 MONDO:equivalentTo Genetic posterior fossa malformation semapv:UnspecifiedMatching +MONDO:8000030 obsolete morphological anomaly Orphanet:377791 MONDO:equivalentTo Morphological anomaly semapv:UnspecifiedMatching +MONDO:8000031 obsolete subtype of a disorder Orphanet:557494 MONDO:equivalentTo subtype of a disorder semapv:UnspecifiedMatching +MONDO:8000033 obsolete group of disorders Orphanet:557492 MONDO:equivalentTo group of disorders semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_omimps.tsv deleted file mode 100644 index f8586014..00000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_omimps.tsv +++ /dev/null @@ -1,2 +0,0 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0019148 Wolman disease skos:broadMatch OMIMPS:278000 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label lysosomal acid lipase deficiency LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index e32073fd..9969aa37 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -2,6 +2,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justificati MONDO:0002601 teratoma skos:closeMatch DOID:0080602 benign teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9080/1 LEXMATCH MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020031 LEXMATCH MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d020031 LEXMATCH +MONDO:0005111 Epstein-Barr virus infection skos:closeMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d020031 LEXMATCH MONDO:0005220 collecting duct carcinoma skos:closeMatch DOID:0070475 renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal medullary carcinoma LEXMATCH MONDO:0006260 kidney medullary carcinoma skos:closeMatch DOID:0070475 renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13175 LEXMATCH MONDO:0006260 kidney medullary carcinoma skos:closeMatch DOID:0070475 renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13175 LEXMATCH @@ -11,16 +12,25 @@ MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 Nort MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:9179 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c537835 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:136550 LEXMATCH +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c537835 LEXMATCH MONDO:0007630 North Carolina macular dystrophy skos:closeMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136550 LEXMATCH MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch DOID:0080763 diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse gastric cancer LEXMATCH MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:149730 LEXMATCH MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:149730 LEXMATCH +MONDO:0007872 LADD syndrome skos:closeMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:149730 LEXMATCH MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 LEXMATCH MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:162210 LEXMATCH MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162210 LEXMATCH +MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166800 LEXMATCH +MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:166800 LEXMATCH +MONDO:0008164 otosclerosis 1 skos:closeMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166800 LEXMATCH MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193520 LEXMATCH MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:193520 LEXMATCH MONDO:0008672 Watson syndrome skos:closeMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193520 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:220110 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220110 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:48 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated cytochrome c oxidase deficiency LEXMATCH MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch DOID:0080400 orofacial cleft 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft 7 LEXMATCH MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome LEXMATCH @@ -29,23 +39,51 @@ MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:clo MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 2 LEXMATCH MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 LEXMATCH MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239300 LEXMATCH +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:256040 LEXMATCH +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:256040 LEXMATCH +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:256040 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:117 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536632 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:117 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536632 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:269150 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel-giedion midface retraction syndrome LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel giedion syndrome LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536632 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269150 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5621 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562584 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:278300 LEXMATCH +MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562584 LEXMATCH MONDO:0010209 xanthinuria type I skos:closeMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278300 LEXMATCH +MONDO:0010857 semantic dementia skos:closeMatch DOID:0081391 semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10792 LEXMATCH +MONDO:0010913 Caroli disease skos:closeMatch DOID:0081394 Caroli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:6002 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5620 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566358 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:603592 LEXMATCH +MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566358 LEXMATCH MONDO:0011346 xanthinuria type II skos:closeMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603592 LEXMATCH +MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605727 LEXMATCH +MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:605727 LEXMATCH +MONDO:0011586 otosclerosis 2 skos:closeMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605727 LEXMATCH MONDO:0011773 anauxetic dysplasia skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia 1 LEXMATCH +MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608244 LEXMATCH +MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608244 LEXMATCH +MONDO:0011999 otosclerosis 3 skos:closeMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608244 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9842 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535754 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608779 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie LEXMATCH +MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c535754 LEXMATCH MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608779 LEXMATCH +MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608787 LEXMATCH +MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608787 LEXMATCH +MONDO:0012121 otosclerosis 5 skos:closeMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608787 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608850 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:608850 LEXMATCH MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 LEXMATCH @@ -54,6 +92,15 @@ MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatc MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609446 LEXMATCH MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia LEXMATCH MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609446 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:12913 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567020 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:12913 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567020 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611087 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pretzel syndrome LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567020 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611087 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10714 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 LEXMATCH @@ -61,7 +108,28 @@ MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semap MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c548032 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611431 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome LEXMATCH +MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c548032 LEXMATCH MONDO:0012669 Legius syndrome skos:closeMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611431 LEXMATCH +MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611571 LEXMATCH +MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611571 LEXMATCH +MONDO:0012696 otosclerosis 4 skos:closeMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611571 LEXMATCH +MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611572 LEXMATCH +MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611572 LEXMATCH +MONDO:0012697 otosclerosis 7 skos:closeMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611572 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10740 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10740 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:611913 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome 16p11.2 deletion syndrome, 593-kb LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611913 LEXMATCH +MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612096 LEXMATCH +MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:612096 LEXMATCH +MONDO:0012797 otosclerosis 8 skos:closeMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612096 LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10484 LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567730 LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:10484 LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c567730 LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c567730 LEXMATCH MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 LEXMATCH MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614207 LEXMATCH MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 8 LEXMATCH @@ -75,6 +143,9 @@ MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:clo MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615228 LEXMATCH MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615228 LEXMATCH MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615228 LEXMATCH +MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615589 LEXMATCH +MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615589 LEXMATCH +MONDO:0014264 otosclerosis 10 skos:closeMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615589 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615670 LEXMATCH MONDO:0014299 schwannomatosis 2 skos:closeMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis 2 LEXMATCH @@ -86,23 +157,46 @@ MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:clo MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 LEXMATCH MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615889 LEXMATCH MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615889 LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615919 LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcna-related progressive neurodegenerative photosensitivity syndrome LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615919 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616025 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect 11 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs5 LEXMATCH MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616025 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13111 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616267 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616267 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616809 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616809 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616809 LEXMATCH +MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 LEXMATCH +MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617183 LEXMATCH +MONDO:0014958 Harel-Yoon syndrome skos:closeMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617183 LEXMATCH +MONDO:0015059 progressive non-fluent aphasia skos:closeMatch DOID:0081390 progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10793 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8815/1 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:239300 LEXMATCH MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:239300 LEXMATCH +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:239300 LEXMATCH +MONDO:0016644 logopenic progressive aphasia skos:closeMatch DOID:0081389 logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:10791 LEXMATCH MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH MONDO:0016695 oligodendroglioma skos:closeMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9450/3 LEXMATCH MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9451/3 LEXMATCH MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13594 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618049 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13594 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618049 LEXMATCH +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618049 LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13423 LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616878 LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616878 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:151623 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151623 LEXMATCH @@ -111,6 +205,7 @@ MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semap MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos1 LEXMATCH MONDO:0019349 Sotos syndrome skos:closeMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117550 LEXMATCH MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9400/3 LEXMATCH +MONDO:0019806 primary progressive aphasia skos:closeMatch DOID:0081388 primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8541 LEXMATCH MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch DOID:0070367 leukoencephalopathy with vanishing white matter 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree leukoencephalopathy LEXMATCH MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115430 LEXMATCH MONDO:0020730 carpal tunnel syndrome 1 skos:closeMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:115430 LEXMATCH @@ -125,6 +220,9 @@ MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 s MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:162091 LEXMATCH MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis 1 LEXMATCH MONDO:0024517 schwannomatosis 1 skos:closeMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162091 LEXMATCH +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 LEXMATCH +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:604391 LEXMATCH +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604391 LEXMATCH MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618832 LEXMATCH MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618832 LEXMATCH MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:closeMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618832 LEXMATCH @@ -134,12 +232,21 @@ MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch D MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618912 LEXMATCH MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618912 LEXMATCH MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:closeMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618912 LEXMATCH +MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618960 LEXMATCH +MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618960 LEXMATCH +MONDO:0030073 Mitchell syndrome skos:closeMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618960 LEXMATCH MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619386 LEXMATCH MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619386 LEXMATCH MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:closeMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619386 LEXMATCH MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619425 LEXMATCH MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619425 LEXMATCH MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:closeMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619425 LEXMATCH +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619477 LEXMATCH +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619477 LEXMATCH +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619477 LEXMATCH +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619478 LEXMATCH +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619478 LEXMATCH +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619478 LEXMATCH MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619423 LEXMATCH MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619423 LEXMATCH MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:closeMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619423 LEXMATCH @@ -155,13 +262,24 @@ MONDO:0030883 carpal tunnel syndrome 2 skos:closeMatch DOID:0070467 carpal tunne MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 LEXMATCH MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619133 LEXMATCH MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619133 LEXMATCH +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 LEXMATCH +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619175 LEXMATCH +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619175 LEXMATCH +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619183 LEXMATCH +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619183 LEXMATCH +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619183 LEXMATCH MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619966 LEXMATCH MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619966 LEXMATCH MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:closeMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619966 LEXMATCH MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:136550 LEXMATCH MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:136550 LEXMATCH +MONDO:0031166 macular dystrophy, retinal skos:closeMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:136550 LEXMATCH MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:616901 LEXMATCH MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:616901 LEXMATCH +MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:closeMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:616901 LEXMATCH +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 LEXMATCH +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618500 LEXMATCH +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618500 LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618528 LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618528 LEXMATCH MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome 16 (hepatic type) LEXMATCH @@ -170,21 +288,98 @@ MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:00704 MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618567 LEXMATCH MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 17 LEXMATCH MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618567 LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618810 LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618810 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618811 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618811 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 18 LEXMATCH MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618811 LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618815 LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618815 LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618815 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618972 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome 19 LEXMATCH MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618972 LEXMATCH +MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619033 LEXMATCH +MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619033 LEXMATCH +MONDO:0033618 Vissers-Bodmer syndrome skos:closeMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619033 LEXMATCH +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619046 LEXMATCH +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619046 LEXMATCH +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619046 LEXMATCH +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619048 LEXMATCH +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619048 LEXMATCH +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619048 LEXMATCH +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619051 LEXMATCH +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619051 LEXMATCH +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619051 LEXMATCH +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619052 LEXMATCH +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619052 LEXMATCH +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619052 LEXMATCH +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619053 LEXMATCH +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619053 LEXMATCH +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619053 LEXMATCH +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619054 LEXMATCH +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619054 LEXMATCH +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619054 LEXMATCH +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619055 LEXMATCH +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619055 LEXMATCH +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619055 LEXMATCH +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619058 LEXMATCH +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619058 LEXMATCH +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619058 LEXMATCH +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619059 LEXMATCH +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619059 LEXMATCH +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619059 LEXMATCH +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619060 LEXMATCH +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619060 LEXMATCH +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619060 LEXMATCH +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619061 LEXMATCH +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619061 LEXMATCH +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619061 LEXMATCH +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619062 LEXMATCH +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619062 LEXMATCH +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619062 LEXMATCH +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619063 LEXMATCH +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619063 LEXMATCH +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619063 LEXMATCH +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619064 LEXMATCH +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619064 LEXMATCH +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619064 LEXMATCH +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619065 LEXMATCH +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619065 LEXMATCH +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619065 LEXMATCH +MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617439 LEXMATCH +MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617439 LEXMATCH +MONDO:0044315 craniosynostosis 7 skos:closeMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617439 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13658 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13658 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617672 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617672 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:607095 LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type LEXMATCH MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607095 LEXMATCH +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 LEXMATCH +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617591 LEXMATCH +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617591 LEXMATCH +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 LEXMATCH +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618048 LEXMATCH +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618048 LEXMATCH MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 LEXMATCH MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617892 LEXMATCH MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617892 LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:613135 LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613135 LEXMATCH +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 LEXMATCH +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617755 LEXMATCH +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617755 LEXMATCH MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617921 LEXMATCH MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617921 LEXMATCH MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:closeMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617921 LEXMATCH @@ -199,9 +394,15 @@ MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch DO MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619333 LEXMATCH MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619333 LEXMATCH MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:closeMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619333 LEXMATCH +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619355 LEXMATCH +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619355 LEXMATCH +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619355 LEXMATCH MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619480 LEXMATCH MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619480 LEXMATCH MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:closeMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619480 LEXMATCH +MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619648 LEXMATCH +MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619648 LEXMATCH +MONDO:0859209 Zaki syndrome skos:closeMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619648 LEXMATCH MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619681 LEXMATCH MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619681 LEXMATCH MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:closeMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619681 LEXMATCH @@ -226,9 +427,15 @@ MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:closeMatch D MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620167 LEXMATCH MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620167 LEXMATCH MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:closeMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620167 LEXMATCH +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620199 LEXMATCH +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620199 LEXMATCH +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:closeMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620199 LEXMATCH MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620221 LEXMATCH MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620221 LEXMATCH MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:closeMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620221 LEXMATCH +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620275 LEXMATCH +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620275 LEXMATCH +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:closeMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620275 LEXMATCH MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620285 LEXMATCH MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620285 LEXMATCH MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:closeMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620285 LEXMATCH @@ -241,6 +448,9 @@ MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch DOID:008137 MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620193 LEXMATCH MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620193 LEXMATCH MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620193 LEXMATCH +MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301107 LEXMATCH +MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301107 LEXMATCH +MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:closeMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301107 LEXMATCH MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620310 LEXMATCH MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620310 LEXMATCH MONDO:0957215 congenital myopathy 20 skos:closeMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620310 LEXMATCH @@ -280,6 +490,12 @@ MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:closeMatch DOID:00 MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620417 LEXMATCH MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620417 LEXMATCH MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:closeMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620417 LEXMATCH +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620428 LEXMATCH +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620428 LEXMATCH +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:closeMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620428 LEXMATCH MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620452 LEXMATCH MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620452 LEXMATCH MONDO:0957538 amyotrophic lateral sclerosis 28 skos:closeMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620452 LEXMATCH +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620455 LEXMATCH +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620455 LEXMATCH +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:closeMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620455 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index 4a52520b..923cd1bd 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -2204,6 +2204,7 @@ MONDO:0006044 nephrosclerosis skos:closeMatch ICD10CM:I12 Hypertensive chronic k MONDO:0006044 nephrosclerosis skos:closeMatch ICD10CM:I12 Hypertensive chronic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11664 LEXMATCH MONDO:0006052 pulmonary tuberculosis skos:closeMatch ICD10CM:A15 Respiratory tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:2957 LEXMATCH MONDO:0006052 pulmonary tuberculosis skos:closeMatch ICD10CM:A15 Respiratory tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:2957 LEXMATCH +MONDO:0006132 cervical adenoid basal carcinoma skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006132 LEXMATCH MONDO:0006133 cervical adenoid cystic carcinoma skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006133 LEXMATCH MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006143 LEXMATCH MONDO:0006170 conjunctival disorder skos:closeMatch ICD10CM:H11.9 Unspecified disorder of conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:4251 LEXMATCH @@ -3369,8 +3370,6 @@ MONDO:0010171 Usher syndrome type 1C skos:closeMatch ICD10CM:H35.5 Hereditary re MONDO:0010174 Valinemia skos:closeMatch ICD10CM:E71.19 Other disorders of branched-chain amino-acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypervalinemia LEXMATCH MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch ICD10CM:G71.0 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010181 LEXMATCH MONDO:0010193 Weaver syndrome skos:closeMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver syndrome LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch ICD10CM:E83.01 Wilson's disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:893 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch ICD10CM:E83.01 Wilson's disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:893 LEXMATCH MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch ICD10CM:Q82.1 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110843 LEXMATCH MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch ICD10CM:Q82.1 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110843 LEXMATCH MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch ICD10CM:Q82.1 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110844 LEXMATCH @@ -3500,8 +3499,8 @@ MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch ICD1 MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch ICD10CM:Q87.8 Other specified congenital malformation syndromes, not elsewhere classified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060804 LEXMATCH MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch ICD10CM:Q87.8 Other specified congenital malformation syndromes, not elsewhere classified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060802 LEXMATCH MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch ICD10CM:Q87.8 Other specified congenital malformation syndromes, not elsewhere classified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060802 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0111225 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0111225 LEXMATCH +MONDO:0010683 X-linked myotubular myopathy skos:closeMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0111225 LEXMATCH +MONDO:0010683 X-linked myotubular myopathy skos:closeMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0111225 LEXMATCH MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110212 LEXMATCH MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110212 LEXMATCH MONDO:0010691 Norrie disease skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010691 LEXMATCH @@ -4454,7 +4453,6 @@ MONDO:0013186 Noonan syndrome 6 skos:closeMatch ICD10CM:Q87.1 Congenital malform MONDO:0013186 Noonan syndrome 6 skos:closeMatch ICD10CM:Q87.1 Congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060584 LEXMATCH MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch ICD10CM:N04.1 Nephrotic syndrome with focal and segmental glomerular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0111130 LEXMATCH MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch ICD10CM:N04.1 Nephrotic syndrome with focal and segmental glomerular lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0111130 LEXMATCH -MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch ICD10CM:K76.0 Fatty (change of) liver, not elsewhere classified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonalcoholic fatty liver disease LEXMATCH MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110483 LEXMATCH MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110483 LEXMATCH MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch ICD10CM:G60.0 Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110177 LEXMATCH @@ -4477,8 +4475,8 @@ MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch ICD10CM:Q93.5 O MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110364 LEXMATCH MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013263 LEXMATCH MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110364 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060398 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060398 LEXMATCH +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE doid:0060398 LEXMATCH +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch ICD10CM:Q93.5 Other deletions of part of a chromosome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:broadMatch-INVERSE doid:0060398 LEXMATCH MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110536 LEXMATCH MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch ICD10CM:H90.3 Sensorineural hearing loss, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110536 LEXMATCH MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110398 LEXMATCH @@ -5209,7 +5207,6 @@ MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:closeMatch ICD10CM:C53.0 MONDO:0016283 leiomyosarcoma of the cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016283 LEXMATCH MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016284 LEXMATCH MONDO:0016285 papillary carcinoma of the cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016285 LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016287 LEXMATCH MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch ICD10CM:C53.0 Malignant neoplasm of endocervix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016289 LEXMATCH MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0050534 LEXMATCH MONDO:0016293 congenital stationary night blindness skos:closeMatch ICD10CM:H53.63 Congenital night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0050534 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv index 8e5e4205..f373c3a4 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv @@ -8,6 +8,7 @@ MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIMPS:113800 Epidermolyt MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIMPS:113800 Epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:4603 LEXMATCH MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIMPS:113800 Epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:4603 LEXMATCH MONDO:0008171 nephrolithiasis skos:closeMatch OMIMPS:167030 Nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate LEXMATCH +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIMPS:305450 FG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome LEXMATCH MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amegakaryocytic thrombocytopenia, congenital LEXMATCH MONDO:0011612 glycine encephalopathy skos:closeMatch OMIMPS:605899 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy LEXMATCH MONDO:0012033 bradyopsia skos:closeMatch OMIMPS:608415 Prolonged electroretinal response suppression semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0050335 LEXMATCH @@ -18,6 +19,7 @@ MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMI MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018875 LEXMATCH +MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:0018875 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:3012 LEXMATCH MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIMPS:167030 Nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index 24c2fa94..35a768c1 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -1,69605 +1,69 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000001 disease skos:closeMatch Orphanet:377788 Disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000001 LEXMATCH -MONDO:0000001 disease skos:closeMatch Orphanet:377788 Disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000001 LEXMATCH -MONDO:0000023 infantile liver failure skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464724 LEXMATCH -MONDO:0000023 infantile liver failure skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17820 LEXMATCH -MONDO:0000023 infantile liver failure skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000023 LEXMATCH -MONDO:0000023 infantile liver failure skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000023 LEXMATCH -MONDO:0000023 infantile liver failure skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464724 LEXMATCH -MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060873 LEXMATCH -MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:437 LEXMATCH -MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6735 LEXMATCH -MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000044 LEXMATCH -MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000044 LEXMATCH -MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:437 LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631 LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12556 LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000050 LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000050 LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266464 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35981 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18818 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000087 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000087 LEXMATCH -MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35981 LEXMATCH -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7446 LEXMATCH -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000088 LEXMATCH -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000088 LEXMATCH -MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673913 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865295 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137888 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9798 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000107 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000107 LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137888 LEXMATCH -MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535441 LEXMATCH -MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2695 LEXMATCH -MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:884 LEXMATCH -MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000110 LEXMATCH -MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000110 LEXMATCH -MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2695 LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063361 LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2623 LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2449 LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000127 LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000127 LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2623 LEXMATCH -MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2268 LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2945 LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label icf syndrome LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000133 LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000133 LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2268 LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2340 LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6829 LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000136 LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000136 LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2340 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1052 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3007 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000141 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000141 LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1052 LEXMATCH -MONDO:0000153 transposition of the great arteries skos:closeMatch Orphanet:216675 Transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216675 LEXMATCH -MONDO:0000153 transposition of the great arteries skos:closeMatch Orphanet:216675 Transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7795 LEXMATCH -MONDO:0000153 transposition of the great arteries skos:closeMatch Orphanet:216675 Transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000153 LEXMATCH -MONDO:0000153 transposition of the great arteries skos:closeMatch Orphanet:216675 Transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000153 LEXMATCH -MONDO:0000153 transposition of the great arteries skos:closeMatch Orphanet:216675 Transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216675 LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98938 LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3644 LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000170 LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000170 LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98938 LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2599 LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000171 LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000171 LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:899 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265218 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2671 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:102 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000179 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000179 LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2671 LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168588 LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9882 LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000193 LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000193 LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168588 LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796013 LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3473 LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:385 LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000200 LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000200 LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3473 LEXMATCH -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616033 LEXMATCH -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18459 LEXMATCH -MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616033 LEXMATCH -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:486811 LEXMATCH -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17882 LEXMATCH -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000209 LEXMATCH -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000209 LEXMATCH -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:486811 LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836694 LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228169 LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17146 LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000211 LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000211 LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228169 LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300547 LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17374 LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000212 LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000212 LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300547 LEXMATCH -MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028282 LEXMATCH -MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83315 LEXMATCH -MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19033 LEXMATCH -MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000330 LEXMATCH -MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000330 LEXMATCH -MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83315 LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410179 LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75840 LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4769 LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disease LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, ullrich type LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000355 LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000355 LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75840 LEXMATCH -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1797 LEXMATCH -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000359 LEXMATCH -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 LEXMATCH -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome LEXMATCH -MONDO:0000390 vitelliform macular dystrophy skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339510 LEXMATCH -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects LEXMATCH -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome LEXMATCH -MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 LEXMATCH -MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19816 LEXMATCH -MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare ataxia LEXMATCH -MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000437 LEXMATCH -MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000437 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158683 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2924 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9457 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000447 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000447 LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2924 LEXMATCH -MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51083 LEXMATCH -MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16650 LEXMATCH -MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial short qt syndrome LEXMATCH -MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000453 LEXMATCH -MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000453 LEXMATCH -MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51083 LEXMATCH -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1871 LEXMATCH -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11897 LEXMATCH -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label progressive cone dystrophy LEXMATCH -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000455 LEXMATCH -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000455 LEXMATCH -MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1871 LEXMATCH -MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18952 LEXMATCH -MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000456 LEXMATCH -MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000456 LEXMATCH -MONDO:0000462 eye adnexa disorder skos:closeMatch Orphanet:519266 Rare disorder of the ocular adnexa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000462 LEXMATCH -MONDO:0000462 eye adnexa disorder skos:closeMatch Orphanet:519266 Rare disorder of the ocular adnexa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0000462 LEXMATCH -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 LEXMATCH -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2704 LEXMATCH -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:104 LEXMATCH -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000463 LEXMATCH -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000463 LEXMATCH -MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2704 LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:376724 Generalized isolated dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21618 LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:376724 Generalized isolated dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000476 LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:376724 Generalized isolated dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000476 LEXMATCH -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia 12 LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833662 LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52430 LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10899 LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000507 LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000507 LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52430 LEXMATCH -MONDO:0000565 infective endocarditis skos:closeMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570762 LEXMATCH -MONDO:0000565 infective endocarditis skos:closeMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6337 LEXMATCH -MONDO:0000565 infective endocarditis skos:closeMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000565 LEXMATCH -MONDO:0000565 infective endocarditis skos:closeMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000565 LEXMATCH -MONDO:0000565 infective endocarditis skos:closeMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570762 LEXMATCH -MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 LEXMATCH -MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053865 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346190 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180237 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20203 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000645 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000645 LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180237 LEXMATCH -MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 LEXMATCH -MONDO:0000688 inborn organic aciduria skos:closeMatch Orphanet:289899 Organic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289899 LEXMATCH -MONDO:0000688 inborn organic aciduria skos:closeMatch Orphanet:289899 Organic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9433 LEXMATCH -MONDO:0000688 inborn organic aciduria skos:closeMatch Orphanet:289899 Organic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000688 LEXMATCH -MONDO:0000688 inborn organic aciduria skos:closeMatch Orphanet:289899 Organic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000688 LEXMATCH -MONDO:0000688 inborn organic aciduria skos:closeMatch Orphanet:289899 Organic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289899 LEXMATCH -MONDO:0000700 familial hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569 LEXMATCH -MONDO:0000700 familial hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000700 LEXMATCH -MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 LEXMATCH -MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly LEXMATCH -MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 LEXMATCH -MONDO:0000734 Ohdo syndrome and variants skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306229 LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:241 LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1996 LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000736 LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000736 LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:241 LEXMATCH -MONDO:0000754 anal fistula skos:closeMatch Orphanet:228113 Anal fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228113 LEXMATCH -MONDO:0000754 anal fistula skos:closeMatch Orphanet:228113 Anal fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20568 LEXMATCH -MONDO:0000754 anal fistula skos:closeMatch Orphanet:228113 Anal fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000754 LEXMATCH -MONDO:0000754 anal fistula skos:closeMatch Orphanet:228113 Anal fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000754 LEXMATCH -MONDO:0000754 anal fistula skos:closeMatch Orphanet:228113 Anal fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228113 LEXMATCH -MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 LEXMATCH -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039447 LEXMATCH -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:795 LEXMATCH -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18704 LEXMATCH -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000827 LEXMATCH -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000827 LEXMATCH -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:795 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016664 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:249 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6444 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000845 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000845 LEXMATCH -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:249 LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2598 LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3885 LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000863 LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000863 LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2598 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218000 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795950 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1496 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1537 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000902 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000902 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218000 LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1496 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834570 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36899 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7139 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-responsive dystonia LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary essential myoclonus LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000903 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000903 LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36899 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615616 LEXMATCH -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615616 LEXMATCH -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 LEXMATCH -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613090 LEXMATCH -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 LEXMATCH -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15612 LEXMATCH -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613090 LEXMATCH -MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312612 LEXMATCH -MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10377 LEXMATCH -MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312612 LEXMATCH -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600792 LEXMATCH -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22585 LEXMATCH -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600792 LEXMATCH -MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616649 LEXMATCH -MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16149 LEXMATCH -MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616649 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065551 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125310 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751587 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:136 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1049 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:125310 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000914 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000914 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125310 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:136 LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:125310 LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371433 LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21613 LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic periodic paralysis LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0000995 LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0000995 LEXMATCH -MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:371433 LEXMATCH -MONDO:0001032 Mooren ulcer skos:closeMatch Orphanet:519408 Mooren ulcer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519408 LEXMATCH -MONDO:0001032 Mooren ulcer skos:closeMatch Orphanet:519408 Mooren ulcer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22132 LEXMATCH -MONDO:0001032 Mooren ulcer skos:closeMatch Orphanet:519408 Mooren ulcer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001032 LEXMATCH -MONDO:0001032 Mooren ulcer skos:closeMatch Orphanet:519408 Mooren ulcer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001032 LEXMATCH -MONDO:0001032 Mooren ulcer skos:closeMatch Orphanet:519408 Mooren ulcer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519408 LEXMATCH -MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 LEXMATCH -MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207500 LEXMATCH -MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301800 LEXMATCH -MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207500 LEXMATCH -MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301800 LEXMATCH -MONDO:0001056 gastric cancer skos:closeMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63443 LEXMATCH -MONDO:0001056 gastric cancer skos:closeMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001056 LEXMATCH -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephropathic cystinosis LEXMATCH -MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 LEXMATCH -MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 LEXMATCH -MONDO:0001195 spotted fever skos:closeMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102022 LEXMATCH -MONDO:0001195 spotted fever skos:closeMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19828 LEXMATCH -MONDO:0001195 spotted fever skos:closeMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001195 LEXMATCH -MONDO:0001195 spotted fever skos:closeMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001195 LEXMATCH -MONDO:0001195 spotted fever skos:closeMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102022 LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102023 LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19829 LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001246 LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001246 LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102023 LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flea-borne typhus LEXMATCH -MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine typhus LEXMATCH -MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 LEXMATCH -MONDO:0001269 scleral disorder skos:closeMatch Orphanet:519298 Rare scleral disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001269 LEXMATCH -MONDO:0001269 scleral disorder skos:closeMatch Orphanet:519298 Rare scleral disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0001269 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280892 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4457 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001280 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001280 LEXMATCH -MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280892 LEXMATCH -MONDO:0001309 oculomotor nerve paralysis skos:closeMatch Orphanet:98685 Rare oculomotor nerve disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19544 LEXMATCH -MONDO:0001309 oculomotor nerve paralysis skos:closeMatch Orphanet:98685 Rare oculomotor nerve disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001309 LEXMATCH -MONDO:0001309 oculomotor nerve paralysis skos:closeMatch Orphanet:98685 Rare oculomotor nerve disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001309 LEXMATCH -MONDO:0001325 penile cancer skos:closeMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398043 LEXMATCH -MONDO:0001325 penile cancer skos:closeMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9366 LEXMATCH -MONDO:0001325 penile cancer skos:closeMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001325 LEXMATCH -MONDO:0001325 penile cancer skos:closeMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001325 LEXMATCH -MONDO:0001325 penile cancer skos:closeMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398043 LEXMATCH -MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyroid stimulating hormone LEXMATCH -MONDO:0001336 familial hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 LEXMATCH -MONDO:0001339 portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064087 LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269 LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9941 LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001347 LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001347 LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269 LEXMATCH -MONDO:0001384 myopia skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027092 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001935 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041234 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3386 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18795 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001444 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001444 LEXMATCH -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3386 LEXMATCH -MONDO:0001476 coloboma skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula LEXMATCH -MONDO:0001540 bagassosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 LEXMATCH -MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch Orphanet:544458 Hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22233 LEXMATCH -MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch Orphanet:544458 Hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001549 LEXMATCH -MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch Orphanet:544458 Hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001549 LEXMATCH -MONDO:0001549 hemolytic-uremic syndrome skos:closeMatch Orphanet:576742 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001549 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252175 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:223 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001569 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001569 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252175 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 LEXMATCH -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056886 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:579 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10335 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001586 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001586 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:579 LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome LEXMATCH -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1429 LEXMATCH -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1305 LEXMATCH -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001595 LEXMATCH -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001595 LEXMATCH -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1429 LEXMATCH -MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 LEXMATCH -MONDO:0001639 deficiency anemia skos:closeMatch Orphanet:248293 Rare deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041782 LEXMATCH -MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 LEXMATCH -MONDO:0001703 color vision disorder skos:closeMatch Orphanet:98658 Color-vision disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98658 LEXMATCH -MONDO:0001703 color vision disorder skos:closeMatch Orphanet:98658 Color-vision disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19537 LEXMATCH -MONDO:0001703 color vision disorder skos:closeMatch Orphanet:98658 Color-vision disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001703 LEXMATCH -MONDO:0001703 color vision disorder skos:closeMatch Orphanet:98658 Color-vision disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001703 LEXMATCH -MONDO:0001703 color vision disorder skos:closeMatch Orphanet:98658 Color-vision disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98658 LEXMATCH -MONDO:0001705 pure red-cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 LEXMATCH -MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68383 LEXMATCH -MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18889 LEXMATCH -MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare constitutional aplastic anemia LEXMATCH -MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001713 LEXMATCH -MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001713 LEXMATCH -MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare constitutional aplastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68383 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045138 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:805 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7830 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001734 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001734 LEXMATCH -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:805 LEXMATCH -MONDO:0001741 hyperparathyroidism skos:closeMatch Orphanet:181408 Rare hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020502 LEXMATCH -MONDO:0001790 spinal cord lipoma skos:closeMatch Orphanet:645276 Spinal cord lipoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0347446 LEXMATCH -MONDO:0001790 spinal cord lipoma skos:closeMatch Orphanet:645276 Spinal cord lipoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645276 LEXMATCH -MONDO:0001790 spinal cord lipoma skos:closeMatch Orphanet:645276 Spinal cord lipoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001790 LEXMATCH -MONDO:0001790 spinal cord lipoma skos:closeMatch Orphanet:645276 Spinal cord lipoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001790 LEXMATCH -MONDO:0001790 spinal cord lipoma skos:closeMatch Orphanet:645276 Spinal cord lipoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645276 LEXMATCH -MONDO:0001823 sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012804 LEXMATCH -MONDO:0001881 toxic shock syndrome skos:closeMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36234 LEXMATCH -MONDO:0001881 toxic shock syndrome skos:closeMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9560 LEXMATCH -MONDO:0001881 toxic shock syndrome skos:closeMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001881 LEXMATCH -MONDO:0001881 toxic shock syndrome skos:closeMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001881 LEXMATCH -MONDO:0001881 toxic shock syndrome skos:closeMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36234 LEXMATCH -MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030568 LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97349 LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19370 LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001945 LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001945 LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97349 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343084 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:188 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1084 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001956 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001956 LEXMATCH -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:188 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016221 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015634 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99906 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6427 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0001971 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0001971 LEXMATCH -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99906 LEXMATCH -MONDO:0002010 FG syndrome skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome LEXMATCH -MONDO:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2415 LEXMATCH -MONDO:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9789 LEXMATCH -MONDO:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002013 LEXMATCH -MONDO:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002013 LEXMATCH -MONDO:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2415 LEXMATCH -MONDO:0002026 candidiasis skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic candidiasis LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346360 LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617910 LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10744 LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002096 LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002096 LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617910 LEXMATCH -MONDO:0002113 peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma LEXMATCH -MONDO:0002135 optic nerve disorder skos:closeMatch Orphanet:519351 Rare optic nerve disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002135 LEXMATCH -MONDO:0002135 optic nerve disorder skos:closeMatch Orphanet:519351 Rare optic nerve disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0002135 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025552 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051677 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2023 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6963 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002142 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002142 LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2023 LEXMATCH -MONDO:0002143 vaginal yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070597 LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90771 LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19147 LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002145 LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002145 LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90771 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025915 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153579 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180242 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20204 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002158 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002158 LEXMATCH -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180242 LEXMATCH -MONDO:0002211 B cell deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deficiency LEXMATCH -MONDO:0002244 factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015503 LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154841 LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411527 LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21734 LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002303 LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002303 LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:closeMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411527 LEXMATCH -MONDO:0002341 granulomatous angiitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 LEXMATCH -MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 LEXMATCH -MONDO:0002405 hepatic vascular disorder skos:closeMatch Orphanet:101938 Rare vascular liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0400923 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017919 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79201 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18973 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002412 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002412 LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79201 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018464 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16523 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002413 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002413 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102660 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367554 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55881 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16660 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002422 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002422 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102660 LEXMATCH -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55881 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2350236 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98300 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13337 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002429 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002429 LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98300 LEXMATCH -MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 LEXMATCH -MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057936 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022387 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90647 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3048 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002441 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002441 LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90647 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:861 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9124 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002457 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002457 LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:861 LEXMATCH -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 LEXMATCH -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 LEXMATCH -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 LEXMATCH -MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020703 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020501 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:416 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16530 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002474 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002474 LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:416 LEXMATCH -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95157 LEXMATCH -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19255 LEXMATCH -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria LEXMATCH -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002520 LEXMATCH -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002520 LEXMATCH -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95157 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061227 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154251 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309005 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21314 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002525 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002525 LEXMATCH -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309005 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029234 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029235 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027809 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252164 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4767 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002546 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002546 LEXMATCH -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252164 LEXMATCH -MONDO:0002561 lysosomal storage disease skos:closeMatch Orphanet:68366 Lysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68366 LEXMATCH -MONDO:0002561 lysosomal storage disease skos:closeMatch Orphanet:68366 Lysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18884 LEXMATCH -MONDO:0002561 lysosomal storage disease skos:closeMatch Orphanet:68366 Lysosomal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002561 LEXMATCH -MONDO:0002561 lysosomal storage disease skos:closeMatch Orphanet:68366 Lysosomal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002561 LEXMATCH -MONDO:0002561 lysosomal storage disease skos:closeMatch Orphanet:68366 Lysosomal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68366 LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036685 LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46135 LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9318 LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002571 LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002571 LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46135 LEXMATCH -MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266091 LEXMATCH -MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263310 LEXMATCH -MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20892 LEXMATCH -MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002588 LEXMATCH -MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002588 LEXMATCH -MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263310 LEXMATCH -MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 LEXMATCH -MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 LEXMATCH -MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031291 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259500 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:668 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7284 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002629 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002629 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259500 LEXMATCH -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:668 LEXMATCH -MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 LEXMATCH -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398053 LEXMATCH -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21638 LEXMATCH -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma of the penis LEXMATCH -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002653 LEXMATCH -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002653 LEXMATCH -MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398053 LEXMATCH -MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266176 LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251902 LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20723 LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002684 LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002684 LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251902 LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:622099 LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7712 LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilkie syndrome LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002687 LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002687 LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:622099 LEXMATCH -MONDO:0002691 liver cancer skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:424500 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206484 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17100 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002697 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002697 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:424500 LEXMATCH -MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206484 LEXMATCH -MONDO:0002718 central nervous system teratoma skos:closeMatch Orphanet:252018 Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252018 LEXMATCH -MONDO:0002718 central nervous system teratoma skos:closeMatch Orphanet:252018 Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20735 LEXMATCH -MONDO:0002718 central nervous system teratoma skos:closeMatch Orphanet:252018 Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002718 LEXMATCH -MONDO:0002718 central nervous system teratoma skos:closeMatch Orphanet:252018 Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002718 LEXMATCH -MONDO:0002718 central nervous system teratoma skos:closeMatch Orphanet:252018 Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252018 LEXMATCH -MONDO:0002726 cutaneous solitary mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018335 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206743 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69077 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7572 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002728 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002728 LEXMATCH -MONDO:0002728 rhabdoid tumor skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69077 LEXMATCH -MONDO:0002735 anal canal adenocarcinoma skos:closeMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424016 LEXMATCH -MONDO:0002735 anal canal adenocarcinoma skos:closeMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21773 LEXMATCH -MONDO:0002735 anal canal adenocarcinoma skos:closeMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002735 LEXMATCH -MONDO:0002735 anal canal adenocarcinoma skos:closeMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002735 LEXMATCH -MONDO:0002735 anal canal adenocarcinoma skos:closeMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424016 LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051938 LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213504 LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20466 LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002752 LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002752 LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:closeMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213504 LEXMATCH -MONDO:0002822 trabecular adenocarcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym merkel cell carcinoma LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:closeMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213792 LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:closeMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20492 LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:closeMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002876 LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:closeMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002876 LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:closeMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213792 LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:closeMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213787 LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:closeMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20491 LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:closeMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002877 LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:closeMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002877 LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:closeMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213787 LEXMATCH -MONDO:0002878 uterine corpus adenosarcoma skos:closeMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213600 LEXMATCH -MONDO:0002878 uterine corpus adenosarcoma skos:closeMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20473 LEXMATCH -MONDO:0002878 uterine corpus adenosarcoma skos:closeMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002878 LEXMATCH -MONDO:0002878 uterine corpus adenosarcoma skos:closeMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002878 LEXMATCH -MONDO:0002878 uterine corpus adenosarcoma skos:closeMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213600 LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100080 LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19755 LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the colon LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002882 LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002882 LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100080 LEXMATCH -MONDO:0002921 congenital structural myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label centronuclear myopathy LEXMATCH -MONDO:0002926 clear cell sarcoma skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:closeMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494451 LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:closeMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22006 LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:closeMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0002955 LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:closeMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0002955 LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:closeMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494451 LEXMATCH -MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319287 LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21417 LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003010 LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003010 LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319287 LEXMATCH -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:closeMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319322 LEXMATCH -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:closeMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21418 LEXMATCH -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:closeMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003011 LEXMATCH -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:closeMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003011 LEXMATCH -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:closeMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319322 LEXMATCH -MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100075 LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19750 LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of stomach LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003111 LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003111 LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100075 LEXMATCH -MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed germ cell tumor LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:closeMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363489 LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:closeMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21551 LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:closeMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003125 LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:closeMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003125 LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:closeMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363489 LEXMATCH -MONDO:0003130 mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018201 LEXMATCH -MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334596 LEXMATCH -MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251883 LEXMATCH -MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20721 LEXMATCH -MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003144 LEXMATCH -MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003144 LEXMATCH -MONDO:0003144 medulloepithelioma skos:closeMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251883 LEXMATCH -MONDO:0003182 anterior horn disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278803 LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:104075 LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19851 LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003198 LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003198 LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:closeMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:104075 LEXMATCH -MONDO:0003240 thyroid gland disorder skos:closeMatch Orphanet:101955 Rare thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040128 LEXMATCH -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:301 LEXMATCH -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16527 LEXMATCH -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003266 LEXMATCH -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003266 LEXMATCH -MONDO:0003266 ependymal tumor skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:301 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206702 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99978 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10175 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003345 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003345 LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99978 LEXMATCH -MONDO:0003346 central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0920305 LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:104076 LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19852 LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003360 LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003360 LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:104076 LEXMATCH -MONDO:0003402 testicular yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor LEXMATCH -MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:closeMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499182 LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:closeMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22042 LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:closeMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003414 LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:closeMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003414 LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:closeMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499182 LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854486 LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314753 LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21389 LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003429 LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003429 LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314753 LEXMATCH -MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 LEXMATCH -MONDO:0003540 acute T cell leukemia skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 LEXMATCH -MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma LEXMATCH -MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0677776 LEXMATCH -MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:145 LEXMATCH -MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15010 LEXMATCH -MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003582 LEXMATCH -MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003582 LEXMATCH -MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:145 LEXMATCH -MONDO:0003604 functioning pituitary gland neoplasm skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335315 LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424073 LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21781 LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003630 LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003630 LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424073 LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100081 LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19756 LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003646 LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003646 LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100081 LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:closeMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506136 LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:closeMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22058 LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:closeMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003649 LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:closeMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003649 LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:closeMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506136 LEXMATCH -MONDO:0003669 testicular seminoma skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:842 LEXMATCH -MONDO:0003669 testicular seminoma skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4792 LEXMATCH -MONDO:0003669 testicular seminoma skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003669 LEXMATCH -MONDO:0003669 testicular seminoma skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003669 LEXMATCH -MONDO:0003669 testicular seminoma skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:842 LEXMATCH -MONDO:0003710 ovarian mixed germ cell neoplasm skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed germ cell tumor LEXMATCH -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398686 LEXMATCH -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101997 LEXMATCH -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency LEXMATCH -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003778 LEXMATCH -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003778 LEXMATCH -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101997 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605074 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0879257 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:47044 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13157 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003789 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003789 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605074 LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:47044 LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392998 LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213512 LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7296 LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant mixed müllerian tumor of the ovary LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003792 LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003792 LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213512 LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:closeMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370396 LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:closeMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10411 LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:closeMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003795 LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:closeMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003795 LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:closeMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370396 LEXMATCH -MONDO:0003832 complement deficiency skos:closeMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21919 LEXMATCH -MONDO:0003832 complement deficiency skos:closeMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0003832 LEXMATCH -MONDO:0003832 complement deficiency skos:closeMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0003832 LEXMATCH -MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym thyrotroph adenoma LEXMATCH -MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh-oma LEXMATCH -MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 LEXMATCH -MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 LEXMATCH -MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva LEXMATCH -MONDO:0003987 lung lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 LEXMATCH -MONDO:0003989 polyembryoma of the ovary skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyembryoma LEXMATCH -MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 LEXMATCH -MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028361 LEXMATCH -MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68380 LEXMATCH -MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18887 LEXMATCH -MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004069 LEXMATCH -MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004069 LEXMATCH -MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68380 LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284400 LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11923 LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell carcinoma of the bladder LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004114 LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004114 LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284400 LEXMATCH -MONDO:0004132 anal canal squamous cell carcinoma skos:closeMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424019 LEXMATCH -MONDO:0004132 anal canal squamous cell carcinoma skos:closeMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21774 LEXMATCH -MONDO:0004132 anal canal squamous cell carcinoma skos:closeMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004132 LEXMATCH -MONDO:0004132 anal canal squamous cell carcinoma skos:closeMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004132 LEXMATCH -MONDO:0004132 anal canal squamous cell carcinoma skos:closeMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424019 LEXMATCH -MONDO:0004187 nodular fasciitis skos:closeMatch Orphanet:477742 Nodular fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477742 LEXMATCH -MONDO:0004187 nodular fasciitis skos:closeMatch Orphanet:477742 Nodular fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21959 LEXMATCH -MONDO:0004187 nodular fasciitis skos:closeMatch Orphanet:477742 Nodular fasciitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004187 LEXMATCH -MONDO:0004187 nodular fasciitis skos:closeMatch Orphanet:477742 Nodular fasciitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004187 LEXMATCH -MONDO:0004187 nodular fasciitis skos:closeMatch Orphanet:477742 Nodular fasciitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477742 LEXMATCH -MONDO:0004216 pineal region germinoma skos:closeMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91352 LEXMATCH -MONDO:0004216 pineal region germinoma skos:closeMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19162 LEXMATCH -MONDO:0004216 pineal region germinoma skos:closeMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004216 LEXMATCH -MONDO:0004216 pineal region germinoma skos:closeMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004216 LEXMATCH -MONDO:0004216 pineal region germinoma skos:closeMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91352 LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:512017 LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22072 LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic lymphoproliferative disorder of natural killer cells LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004234 LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004234 LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:closeMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:512017 LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031130 LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97335 LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19364 LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004241 LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004241 LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:closeMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97335 LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335304 LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424058 LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21779 LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004285 LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004285 LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424058 LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506075 LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22054 LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning neuroendocrine tumor of pancreas LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004334 LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004334 LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506075 LEXMATCH -MONDO:0004351 intraocular lymphoma skos:closeMatch Orphanet:279904 Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279904 LEXMATCH -MONDO:0004351 intraocular lymphoma skos:closeMatch Orphanet:279904 Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21063 LEXMATCH -MONDO:0004351 intraocular lymphoma skos:closeMatch Orphanet:279904 Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004351 LEXMATCH -MONDO:0004351 intraocular lymphoma skos:closeMatch Orphanet:279904 Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004351 LEXMATCH -MONDO:0004351 intraocular lymphoma skos:closeMatch Orphanet:279904 Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279904 LEXMATCH -MONDO:0004380 dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label follicular dendritic cell sarcoma LEXMATCH -MONDO:0004512 meningeal melanomatosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptomeningeal melanomatosis LEXMATCH -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213833 LEXMATCH -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20500 LEXMATCH -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glassy cell carcinoma of the cervix uteri LEXMATCH -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004542 LEXMATCH -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004542 LEXMATCH -MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213833 LEXMATCH -MONDO:0004573 ariboflavinosis skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615026 LEXMATCH -MONDO:0004573 ariboflavinosis skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615026 LEXMATCH -MONDO:0004587 hereditary night blindness skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020231 LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98845 LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19593 LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004604 LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004604 LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98845 LEXMATCH -MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 LEXMATCH -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:closeMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98846 LEXMATCH -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:closeMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19594 LEXMATCH -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:closeMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004620 LEXMATCH -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:closeMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004620 LEXMATCH -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:closeMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98846 LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:closeMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98844 LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:closeMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19592 LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:closeMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004633 LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:closeMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004633 LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:closeMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98844 LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054651 LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98824 LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19583 LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004653 LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004653 LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98824 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035154 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199251 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6873 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004684 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004684 LEXMATCH -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199251 LEXMATCH -MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:730 LEXMATCH -MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10413 LEXMATCH -MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004691 LEXMATCH -MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004691 LEXMATCH -MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:730 LEXMATCH -MONDO:0004726 liver inflammatory myofibroblastic tumor skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory pseudotumor of the liver LEXMATCH -MONDO:0004731 central sleep apnea syndrome skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine syndrome LEXMATCH -MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79167 LEXMATCH -MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7837 LEXMATCH -MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of urea cycle metabolism and ammonia detoxification LEXMATCH -MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004739 LEXMATCH -MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004739 LEXMATCH -MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79167 LEXMATCH -MONDO:0004745 priapism skos:closeMatch Orphanet:140949 Low-flow priapism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140949 LEXMATCH -MONDO:0004745 priapism skos:closeMatch Orphanet:140949 Low-flow priapism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19933 LEXMATCH -MONDO:0004745 priapism skos:closeMatch Orphanet:140949 Low-flow priapism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004745 LEXMATCH -MONDO:0004745 priapism skos:closeMatch Orphanet:140949 Low-flow priapism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004745 LEXMATCH -MONDO:0004745 priapism skos:closeMatch Orphanet:140949 Low-flow priapism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140949 LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:closeMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152138 LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:closeMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636950 LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:closeMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004772 LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:closeMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004772 LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:closeMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636950 LEXMATCH -MONDO:0004775 lens-induced iridocyclitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 LEXMATCH -MONDO:0004815 osteosclerotic plasma cell myeloma skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerotic myeloma LEXMATCH -MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 LEXMATCH -MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002170 LEXMATCH -MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79364 LEXMATCH -MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18995 LEXMATCH -MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004907 LEXMATCH -MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004907 LEXMATCH -MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79364 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152101 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2248 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6739 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004933 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004933 LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2248 LEXMATCH -MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008958 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151400 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67038 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6104 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004948 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004948 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151400 LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67038 LEXMATCH -MONDO:0004950 gastric carcinoma skos:closeMatch Orphanet:423771 Rare carcinoma of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699791 LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98293 Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98293 LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98293 Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2714 LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98293 Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004952 LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98293 Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004952 LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98293 Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98293 LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 LEXMATCH -MONDO:0004958 oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502363 LEXMATCH -MONDO:0004958 oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17932 LEXMATCH -MONDO:0004958 oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004958 LEXMATCH -MONDO:0004958 oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004958 LEXMATCH -MONDO:0004958 oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502363 LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959632 LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98282 LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19440 LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004959 LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004959 LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98282 LEXMATCH -MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:513 LEXMATCH -MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:522 LEXMATCH -MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004967 LEXMATCH -MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004967 LEXMATCH -MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:513 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002026 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002736 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:803 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5786 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004976 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004976 LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:803 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002449 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020981 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86886 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11973 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004977 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004977 LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86886 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007636 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878544 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:167848 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20096 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0004994 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0004994 LEXMATCH -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:167848 LEXMATCH -MONDO:0005005 clear cell renal carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319276 LEXMATCH -MONDO:0005005 clear cell renal carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9574 LEXMATCH -MONDO:0005005 clear cell renal carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005005 LEXMATCH -MONDO:0005005 clear cell renal carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005005 LEXMATCH -MONDO:0005005 clear cell renal carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319276 LEXMATCH -MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457246 LEXMATCH -MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21905 LEXMATCH -MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005006 LEXMATCH -MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005006 LEXMATCH -MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457246 LEXMATCH -MONDO:0005015 diabetes mellitus skos:closeMatch Orphanet:101952 Rare diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011849 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007193 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217604 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:221 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005021 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005021 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217604 LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dilated cardiomyopathy LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99976 LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16927 LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005028 LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005028 LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99976 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015493 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040028 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3318 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6594 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005029 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005029 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3318 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71493 LEXMATCH -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005029 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017709 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251992 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20731 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005033 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005033 LEXMATCH -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251992 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017708 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206718 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251877 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20719 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005035 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005035 LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251877 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007194 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217569 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20518 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005045 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005045 LEXMATCH -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217569 LEXMATCH -MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97279 LEXMATCH -MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3010 LEXMATCH -MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005048 LEXMATCH -MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005048 LEXMATCH -MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97279 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023284 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33276 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6814 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005055 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005055 LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33276 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024189 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023269 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64720 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6880 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005058 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005058 LEXMATCH -MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64720 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024627 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023827 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69078 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6913 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005060 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005060 LEXMATCH -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69078 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025310 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024299 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:223735 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20548 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005062 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005062 LEXMATCH -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:223735 LEXMATCH -MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 LEXMATCH -MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029260 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7185 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005072 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005072 LEXMATCH -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:635 LEXMATCH -MONDO:0005075 thyroid gland papillary carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238463 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034738 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047974 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043167 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1489 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8692 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005077 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005077 LEXMATCH -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1489 LEXMATCH -MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 LEXMATCH -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036485 LEXMATCH -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275555 LEXMATCH -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12924 LEXMATCH -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005081 LEXMATCH -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005081 LEXMATCH -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275555 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067946 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217071 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13215 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005086 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005086 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217071 LEXMATCH -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061982 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1175175 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140896 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9237 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005091 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005091 LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140896 LEXMATCH -MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 LEXMATCH -MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042953 LEXMATCH -MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90291 LEXMATCH -MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9748 LEXMATCH -MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005100 LEXMATCH -MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005100 LEXMATCH -MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90291 LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99971 LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19721 LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005103 LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005103 LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99971 LEXMATCH -MONDO:0005113 bacterial infectious disease skos:closeMatch Orphanet:163582 Rare bacterial infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004623 LEXMATCH -MONDO:0005115 temporal lobe epilepsy skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842564 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047931 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023788 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3452 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7889 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005116 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005116 LEXMATCH -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3452 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024229 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023343 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:548 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6886 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005124 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005124 LEXMATCH -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:548 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025487 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024530 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:673 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6961 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005136 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005136 LEXMATCH -MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:673 LEXMATCH -MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 LEXMATCH -MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95494 LEXMATCH -MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005152 LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:closeMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213772 LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:closeMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20488 LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:closeMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005153 LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:closeMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005153 LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:closeMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213772 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016632 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016057 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2030 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2327 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005164 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005164 LEXMATCH -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2030 LEXMATCH -MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:520820 LEXMATCH -MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4503 LEXMATCH -MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005181 LEXMATCH -MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005181 LEXMATCH -MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:520820 LEXMATCH -MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 LEXMATCH -MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 LEXMATCH -MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714644 LEXMATCH -MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100100 LEXMATCH -MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19767 LEXMATCH -MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005197 LEXMATCH -MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005197 LEXMATCH -MONDO:0005197 thymus neoplasm skos:closeMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100100 LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346210 LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137583 LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19876 LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005198 LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005198 LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:closeMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137583 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038748 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007196 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217632 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20531 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005201 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005201 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217632 LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial restrictive cardiomyopathy LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039497 LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338113 LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213620 LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20476 LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005210 LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005210 LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:closeMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213620 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039022 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035412 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:780 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11951 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005212 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005212 LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:780 LEXMATCH -MONDO:0005215 vulvar carcinoma skos:closeMatch Orphanet:494418 Vulvar carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494418 LEXMATCH -MONDO:0005215 vulvar carcinoma skos:closeMatch Orphanet:494418 Vulvar carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9349 LEXMATCH -MONDO:0005215 vulvar carcinoma skos:closeMatch Orphanet:494418 Vulvar carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005215 LEXMATCH -MONDO:0005215 vulvar carcinoma skos:closeMatch Orphanet:494418 Vulvar carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005215 LEXMATCH -MONDO:0005215 vulvar carcinoma skos:closeMatch Orphanet:494418 Vulvar carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494418 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266044 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247203 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9573 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005220 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005220 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247203 LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal medullary carcinoma LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522631 LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98832 LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19588 LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005223 LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005223 LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98832 LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98833 LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:526 LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005224 LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005224 LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98833 LEXMATCH -MONDO:0005258 autism spectrum disorder skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atypical autism LEXMATCH -MONDO:0005265 inflammatory bowel disease skos:closeMatch Orphanet:104012 Rare inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021390 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aregenerative anemia LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038269 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98826 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19585 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005272 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005272 LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98826 LEXMATCH -MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 LEXMATCH -MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024137 LEXMATCH -MONDO:0005308 ciliopathy skos:closeMatch Orphanet:363250 Ciliopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21544 LEXMATCH -MONDO:0005308 ciliopathy skos:closeMatch Orphanet:363250 Ciliopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005308 LEXMATCH -MONDO:0005308 ciliopathy skos:closeMatch Orphanet:363250 Ciliopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005308 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376620 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217067 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20510 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005312 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005312 LEXMATCH -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217067 LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0520459 LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391673 LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9767 LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005313 LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005313 LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391673 LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016781 LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98974 LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10018 LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fuchs endothelial corneal dystrophy LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005321 LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005321 LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98974 LEXMATCH -MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 LEXMATCH -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 LEXMATCH -MONDO:0005372 male infertility skos:closeMatch Orphanet:98048 Rare male infertility semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021364 LEXMATCH -MONDO:0005377 nephrotic syndrome skos:closeMatch Orphanet:564127 Genetic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005377 LEXMATCH -MONDO:0005377 nephrotic syndrome skos:closeMatch Orphanet:564127 Genetic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0005377 LEXMATCH -MONDO:0005380 osteonecrosis skos:closeMatch Orphanet:399158 Osteonecrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399158 LEXMATCH -MONDO:0005380 osteonecrosis skos:closeMatch Orphanet:399158 Osteonecrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21657 LEXMATCH -MONDO:0005380 osteonecrosis skos:closeMatch Orphanet:399158 Osteonecrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005380 LEXMATCH -MONDO:0005380 osteonecrosis skos:closeMatch Orphanet:399158 Osteonecrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005380 LEXMATCH -MONDO:0005380 osteonecrosis skos:closeMatch Orphanet:399158 Osteonecrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399158 LEXMATCH -MONDO:0005381 bone disorder skos:closeMatch Orphanet:364803 Rare bone disease related to a common gene or pathway defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone disease related to a common gene or pathway defect LEXMATCH -MONDO:0005381 bone disorder skos:closeMatch Orphanet:364803 Rare bone disease related to a common gene or pathway defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005381 LEXMATCH -MONDO:0005385 vascular disorder skos:closeMatch Orphanet:68362 Rare vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042373 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004661 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019137 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008312 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:186 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7459 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005388 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005388 LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:186 LEXMATCH -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91387 LEXMATCH -MONDO:0005396 thoracic aortic aneurysm skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005396 LEXMATCH -MONDO:0005439 familial hypercholesterolemia skos:closeMatch Orphanet:477811 Rare hypercholesterolemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005439 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206659 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180226 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5140 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005440 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005440 LEXMATCH -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180226 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001461 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041228 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3385 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7826 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005459 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005459 LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3385 LEXMATCH -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 LEXMATCH -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99798 LEXMATCH -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16908 LEXMATCH -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005486 LEXMATCH -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005486 LEXMATCH -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99798 LEXMATCH -MONDO:0005492 urticaria skos:closeMatch Orphanet:79384 Rare urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042109 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006041 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006057 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1267 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:943 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005498 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005498 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1267 LEXMATCH -MONDO:0005498 botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rft1-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg11-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label srd5a3-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpm2-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pmm2-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpi-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg3-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg2-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg1-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg9-cdg LEXMATCH -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpagt1-cdg LEXMATCH -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mgat2-cdg LEXMATCH -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mogs-cdg LEXMATCH -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012310 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011311 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99828 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6254 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005502 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005502 LEXMATCH -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99828 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013023 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012546 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1679 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1875 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005504 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005504 LEXMATCH -MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1679 LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266177 LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251946 LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10640 LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005505 LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005505 LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251946 LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:321 LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7035 LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005508 LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005508 LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:321 LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056558 LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168811 LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20102 LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005512 LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005512 LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168811 LEXMATCH -MONDO:0005514 nanophthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35612 LEXMATCH -MONDO:0005514 nanophthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16637 LEXMATCH -MONDO:0005514 nanophthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005514 LEXMATCH -MONDO:0005514 nanophthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005514 LEXMATCH -MONDO:0005514 nanophthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35612 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039614 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3299 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5144 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005526 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005526 LEXMATCH -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3299 LEXMATCH -MONDO:0005543 autoimmune hepatitis type 1 skos:closeMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563576 LEXMATCH -MONDO:0005543 autoimmune hepatitis type 1 skos:closeMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22251 LEXMATCH -MONDO:0005543 autoimmune hepatitis type 1 skos:closeMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005543 LEXMATCH -MONDO:0005543 autoimmune hepatitis type 1 skos:closeMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005543 LEXMATCH -MONDO:0005543 autoimmune hepatitis type 1 skos:closeMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563576 LEXMATCH -MONDO:0005563 nut midline carcinoma skos:closeMatch Orphanet:443167 NUT midline carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443167 LEXMATCH -MONDO:0005563 nut midline carcinoma skos:closeMatch Orphanet:443167 NUT midline carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21852 LEXMATCH -MONDO:0005563 nut midline carcinoma skos:closeMatch Orphanet:443167 NUT midline carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005563 LEXMATCH -MONDO:0005563 nut midline carcinoma skos:closeMatch Orphanet:443167 NUT midline carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005563 LEXMATCH -MONDO:0005563 nut midline carcinoma skos:closeMatch Orphanet:443167 NUT midline carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443167 LEXMATCH -MONDO:0005570 hematologic disorder skos:closeMatch Orphanet:97992 Rare hematologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22522 LEXMATCH -MONDO:0005570 hematologic disorder skos:closeMatch Orphanet:97992 Rare hematologic disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005570 LEXMATCH -MONDO:0005570 hematologic disorder skos:closeMatch Orphanet:97992 Rare hematologic disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005570 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036051 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032461 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98427 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19466 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005571 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005571 LEXMATCH -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98427 LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279626 LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99977 LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18901 LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005580 LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005580 LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99977 LEXMATCH -MONDO:0005586 head and neck neoplasm skos:closeMatch Orphanet:290849 Rare head and neck tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018671 LEXMATCH -MONDO:0005595 laryngeal squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494550 LEXMATCH -MONDO:0005595 laryngeal squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17908 LEXMATCH -MONDO:0005595 laryngeal squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005595 LEXMATCH -MONDO:0005595 laryngeal squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005595 LEXMATCH -MONDO:0005595 laryngeal squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494550 LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:closeMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398961 LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:closeMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21651 LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:closeMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005601 LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:closeMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005601 LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:closeMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398961 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035484 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032131 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86855 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13446 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005615 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005615 LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86855 LEXMATCH -MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041466 LEXMATCH -MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99745 LEXMATCH -MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9564 LEXMATCH -MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005619 LEXMATCH -MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005619 LEXMATCH -MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99745 LEXMATCH -MONDO:0005620 cerebral amyloid angiopathy skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85458 LEXMATCH -MONDO:0005620 cerebral amyloid angiopathy skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10266 LEXMATCH -MONDO:0005620 cerebral amyloid angiopathy skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005620 LEXMATCH -MONDO:0005620 cerebral amyloid angiopathy skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005620 LEXMATCH -MONDO:0005620 cerebral amyloid angiopathy skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85458 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000880 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67043 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9285 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005629 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005629 LEXMATCH -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67043 LEXMATCH -MONDO:0005631 actinomycosis skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457095 LEXMATCH -MONDO:0005631 actinomycosis skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5728 LEXMATCH -MONDO:0005631 actinomycosis skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005631 LEXMATCH -MONDO:0005631 actinomycosis skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005631 LEXMATCH -MONDO:0005631 actinomycosis skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457095 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002255 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020376 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002831 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:78 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9742 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005645 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005645 LEXMATCH -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:78 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003488 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004030 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1163 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5856 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005657 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005657 LEXMATCH -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1163 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003965 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004576 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:108 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5878 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005661 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005661 LEXMATCH -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:108 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004080 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004692 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1223 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:809 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005662 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005662 LEXMATCH -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1223 LEXMATCH -MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99908 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16924 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005668 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005668 LEXMATCH -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99908 LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206638 LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363976 LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13046 LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoclastoma LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005674 LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005674 LEXMATCH -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363976 LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006181 LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99990 LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19725 LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005680 LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005680 LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99990 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006500 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002006 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006309 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1304 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5966 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005683 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005683 LEXMATCH -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1304 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007729 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007361 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50839 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:27 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005692 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005692 LEXMATCH -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50839 LEXMATCH -MONDO:0005696 central nervous system tuberculosis skos:closeMatch Orphanet:641396 Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:641396 LEXMATCH -MONDO:0005696 central nervous system tuberculosis skos:closeMatch Orphanet:641396 Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005696 LEXMATCH -MONDO:0005696 central nervous system tuberculosis skos:closeMatch Orphanet:641396 Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005696 LEXMATCH -MONDO:0005696 central nervous system tuberculosis skos:closeMatch Orphanet:641396 Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:641396 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009825 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009186 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228123 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9525 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005706 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005706 LEXMATCH -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228123 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010022 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009400 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83595 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19042 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005708 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005708 LEXMATCH -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83595 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545080 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168966 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20109 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005710 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005710 LEXMATCH -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168966 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010439 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235833 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2140 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1481 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005711 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005711 LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2140 LEXMATCH -MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039131 LEXMATCH -MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499009 LEXMATCH -MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22036 LEXMATCH -MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005714 LEXMATCH -MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005714 LEXMATCH -MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499009 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010652 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040560 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:858 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18708 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005715 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005715 LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:858 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011490 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010414 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1546 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6218 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005724 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005724 LEXMATCH -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1546 LEXMATCH -MONDO:0005725 cyclosporiasis skos:closeMatch Orphanet:210 Cyclosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210 LEXMATCH -MONDO:0005725 cyclosporiasis skos:closeMatch Orphanet:210 Cyclosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9528 LEXMATCH -MONDO:0005725 cyclosporiasis skos:closeMatch Orphanet:210 Cyclosporiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005725 LEXMATCH -MONDO:0005725 cyclosporiasis skos:closeMatch Orphanet:210 Cyclosporiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005725 LEXMATCH -MONDO:0005725 cyclosporiasis skos:closeMatch Orphanet:210 Cyclosporiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014587 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153065 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83594 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10821 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005736 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005736 LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83594 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014071 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319218 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2035 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005737 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005737 LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319218 LEXMATCH -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 LEXMATCH -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 LEXMATCH -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatid disease LEXMATCH -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048251 LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:876 LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:348 LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005744 LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005744 LEXMATCH -MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:876 LEXMATCH -MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 LEXMATCH -MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 LEXMATCH -MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016675 LEXMATCH -MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2035 LEXMATCH -MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3321 LEXMATCH -MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005761 LEXMATCH -MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005761 LEXMATCH -MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2035 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260325 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86902 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19081 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005764 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005764 LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86902 LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017409 LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3020 LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7525 LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005769 LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005769 LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3020 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048608 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005862 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221117 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8660 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005773 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005773 LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221117 LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:closeMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402823 LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:closeMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21716 LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:closeMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005789 LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:closeMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005789 LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:closeMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402823 LEXMATCH -MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343755 LEXMATCH -MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90081 LEXMATCH -MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19122 LEXMATCH -MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005797 LEXMATCH -MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005797 LEXMATCH -MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90081 LEXMATCH -MONDO:0005799 hookworm infectious disease skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hookworm infection LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020546 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020413 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2787 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005802 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005802 LEXMATCH -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401 LEXMATCH -MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:443095 Hyperinsulinemic hypoglycaemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21849 LEXMATCH -MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:443095 Hyperinsulinemic hypoglycaemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005803 LEXMATCH -MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:443095 Hyperinsulinemic hypoglycaemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005803 LEXMATCH -MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506052 LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22052 LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of pancreas LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005815 LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005815 LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506052 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066431 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157823 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6840 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005817 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005817 LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157823 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023927 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023092 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99824 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19688 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005820 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005820 LEXMATCH -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99824 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035718 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061266 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:549 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6876 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005823 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005823 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:549 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600832 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22419 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005823 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005823 LEXMATCH -MONDO:0005823 legionellosis skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600832 LEXMATCH -MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023364 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:509 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7881 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005825 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005825 LEXMATCH -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:509 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024641 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023860 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:533 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6915 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005828 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005828 LEXMATCH -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:533 LEXMATCH -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051981 LEXMATCH -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:144 LEXMATCH -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9905 LEXMATCH -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005835 LEXMATCH -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005835 LEXMATCH -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:144 LEXMATCH -MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024759 LEXMATCH -MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2459 LEXMATCH -MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8216 LEXMATCH -MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005838 LEXMATCH -MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005838 LEXMATCH -MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2459 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053982 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085407 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2552 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3655 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005846 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005846 LEXMATCH -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2552 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049567 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393799 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98919 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3668 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005851 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005851 LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98919 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:809 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7051 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005854 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005854 LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:809 LEXMATCH -MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 LEXMATCH -MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015827 LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506098 LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22056 LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine carcinoma of pancreas LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005893 LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005893 LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506098 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061906 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030409 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73260 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7323 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005894 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005894 LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73260 LEXMATCH -MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032051 LEXMATCH -MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439167 LEXMATCH -MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21823 LEXMATCH -MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005919 LEXMATCH -MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005919 LEXMATCH -MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439167 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206629 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64741 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18864 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005933 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005933 LEXMATCH -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64741 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039012 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035400 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3096 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7570 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005942 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005942 LEXMATCH -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3096 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041736 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038034 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:826 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7692 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005968 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005968 LEXMATCH -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:826 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041896 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014060 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83484 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19041 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005969 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005969 LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83484 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042254 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038463 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:76 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8195 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005974 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005974 LEXMATCH -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:76 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048627 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039984 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97330 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7759 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005979 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005979 LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97330 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044269 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040553 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3343 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18793 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005988 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005988 LEXMATCH -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3343 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044582 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040830 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64694 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18862 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005991 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0005991 LEXMATCH -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64694 LEXMATCH -MONDO:0006002 urogenital tuberculosis skos:closeMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041333 LEXMATCH -MONDO:0006007 vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289365 LEXMATCH -MONDO:0006007 vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006007 LEXMATCH -MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058805 LEXMATCH -MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98252 LEXMATCH -MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19433 LEXMATCH -MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006009 LEXMATCH -MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006009 LEXMATCH -MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98252 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100067 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9449 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006015 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006015 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100067 LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 LEXMATCH -MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 LEXMATCH -MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:497188 LEXMATCH -MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13075 LEXMATCH -MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006033 LEXMATCH -MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006033 LEXMATCH -MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:497188 LEXMATCH -MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006106 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931104 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2189 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6683 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrolethalus LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006037 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006037 LEXMATCH -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2189 LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334708 LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213531 LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10804 LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006043 LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006043 LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213531 LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398971 LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21652 LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clear cell adenocarcinoma of the ovary LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006045 LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006045 LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398971 LEXMATCH -MONDO:0006052 pulmonary tuberculosis skos:closeMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041327 LEXMATCH -MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 LEXMATCH -MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1314678 LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314422 LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11855 LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006079 LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006079 LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314422 LEXMATCH -MONDO:0006097 atypical lipomatous tumor skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370507 LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251931 LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10642 LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006131 LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006131 LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251931 LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:closeMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213823 LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:closeMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20498 LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:closeMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006133 LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:closeMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006133 LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:closeMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213823 LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279671 LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213767 LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20487 LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006143 LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006143 LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213767 LEXMATCH -MONDO:0006183 disseminated peritoneal leiomyomatosis skos:closeMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71274 LEXMATCH -MONDO:0006183 disseminated peritoneal leiomyomatosis skos:closeMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12843 LEXMATCH -MONDO:0006183 disseminated peritoneal leiomyomatosis skos:closeMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006183 LEXMATCH -MONDO:0006183 disseminated peritoneal leiomyomatosis skos:closeMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006183 LEXMATCH -MONDO:0006183 disseminated peritoneal leiomyomatosis skos:closeMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71274 LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334287 LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401920 LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21704 LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006210 LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006210 LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401920 LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:closeMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:418959 LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:closeMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21743 LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:closeMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006230 LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:closeMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006230 LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:closeMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:418959 LEXMATCH -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96256 LEXMATCH -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16850 LEXMATCH -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label somatotropic adenoma LEXMATCH -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006238 LEXMATCH -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006238 LEXMATCH -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96256 LEXMATCH -MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19441 LEXMATCH -MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell tumor LEXMATCH -MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006247 LEXMATCH -MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006247 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020481 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99927 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10263 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006248 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006248 LEXMATCH -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99927 LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064886 LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319319 LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13175 LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006260 LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006260 LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319319 LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049459 LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538 LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3319 LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006277 LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006277 LEXMATCH -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027406 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156240 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50251 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7026 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006292 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006292 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156240 LEXMATCH -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50251 LEXMATCH -MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 LEXMATCH -MONDO:0006329 olfactory neuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label esthesioneuroblastoma LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346163 LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454723 LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21893 LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006335 LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006335 LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454723 LEXMATCH -MONDO:0006339 ovarian microcystic stromal tumor skos:closeMatch Orphanet:569248 Microcystic stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569248 LEXMATCH -MONDO:0006339 ovarian microcystic stromal tumor skos:closeMatch Orphanet:569248 Microcystic stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22304 LEXMATCH -MONDO:0006339 ovarian microcystic stromal tumor skos:closeMatch Orphanet:569248 Microcystic stromal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006339 LEXMATCH -MONDO:0006339 ovarian microcystic stromal tumor skos:closeMatch Orphanet:569248 Microcystic stromal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006339 LEXMATCH -MONDO:0006339 ovarian microcystic stromal tumor skos:closeMatch Orphanet:569248 Microcystic stromal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569248 LEXMATCH -MONDO:0006344 ovarian yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279661 LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424046 LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21777 LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006346 LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006346 LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424046 LEXMATCH -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:closeMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:595133 LEXMATCH -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:closeMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22383 LEXMATCH -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:closeMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006359 LEXMATCH -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:closeMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006359 LEXMATCH -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:closeMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:595133 LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168816 LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10777 LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign multicystic peritoneal mesothelioma LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006363 LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006363 LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168816 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2986550 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251623 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20711 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006372 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006372 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251623 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035079 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032000 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99408 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19680 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006373 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006373 LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99408 LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178544 LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20160 LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006383 LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006383 LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178544 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063397 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158014 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7588 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006412 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006412 LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158014 LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363494 LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17561 LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006447 LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006447 LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363494 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061031 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205969 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99868 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19695 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006451 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006451 LEXMATCH -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99868 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043670 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99867 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16922 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006456 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006456 LEXMATCH -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99867 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002240 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238461 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:142 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:664 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006468 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006468 LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:142 LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:closeMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424080 LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:closeMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21782 LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:closeMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006479 LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:closeMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006479 LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:closeMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424080 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155720 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220633 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:39044 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8621 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iris melanoma LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal melanoma LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006486 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006486 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155720 LEXMATCH -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:39044 LEXMATCH -MONDO:0006502 acute respiratory distress syndrome skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:closeMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:303 LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:closeMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2150 LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:closeMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006543 LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:closeMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006543 LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:closeMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:303 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019939 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019343 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63275 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6497 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006558 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006558 LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63275 LEXMATCH -MONDO:0006572 lichen planus skos:closeMatch Orphanet:254367 Rare lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023646 LEXMATCH -MONDO:0006583 necrobiosis lipoidica skos:closeMatch Orphanet:542592 Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542592 LEXMATCH -MONDO:0006583 necrobiosis lipoidica skos:closeMatch Orphanet:542592 Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13040 LEXMATCH -MONDO:0006583 necrobiosis lipoidica skos:closeMatch Orphanet:542592 Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006583 LEXMATCH -MONDO:0006583 necrobiosis lipoidica skos:closeMatch Orphanet:542592 Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006583 LEXMATCH -MONDO:0006583 necrobiosis lipoidica skos:closeMatch Orphanet:542592 Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542592 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036175 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162839 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79358 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18989 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006602 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006602 LEXMATCH -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79358 LEXMATCH -MONDO:0006606 scleredema adultorum skos:closeMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352763 LEXMATCH -MONDO:0006606 scleredema adultorum skos:closeMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5975 LEXMATCH -MONDO:0006606 scleredema adultorum skos:closeMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006606 LEXMATCH -MONDO:0006606 scleredema adultorum skos:closeMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006606 LEXMATCH -MONDO:0006606 scleredema adultorum skos:closeMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352763 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042342 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600336 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48377 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13606 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006614 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006614 LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48377 LEXMATCH -MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sneddon-wilkinson disease LEXMATCH -MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label subcorneal pustular dermatosis LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001388 LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206686 LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1501 LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:558 LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006639 LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006639 LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1501 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002709 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042165 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280886 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10941 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iridocyclitis LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006651 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006651 LEXMATCH -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280886 LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137577 LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19875 LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxic and ischemic brain injury in the newborn LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hypoxic and ischemic brain injury LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006663 LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006663 LEXMATCH -MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137577 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003664 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068864 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018817 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1478 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15018 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interatrial communication LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006664 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006664 LEXMATCH -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1478 LEXMATCH -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006430 LEXMATCH -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353253 LEXMATCH -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5974 LEXMATCH -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006687 LEXMATCH -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006687 LEXMATCH -MONDO:0006687 burning mouth syndrome skos:closeMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353253 LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2932 LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6102 LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006702 LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006702 LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2932 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057649 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206630 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213711 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6339 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006745 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006745 LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213711 LEXMATCH -MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 LEXMATCH -MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 LEXMATCH -MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022557 LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279914 LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21065 LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006806 LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006806 LEXMATCH -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279914 LEXMATCH -MONDO:0006823 Klinefelter syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 LEXMATCH -MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022802 LEXMATCH -MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454745 LEXMATCH -MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7617 LEXMATCH -MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006825 LEXMATCH -MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006825 LEXMATCH -MONDO:0006825 kuru skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454745 LEXMATCH -MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal midline granuloma LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025048 LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70588 LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10494 LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006851 LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006851 LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70588 LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86850 LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12763 LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulocytic sarcoma LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006861 LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006861 LEXMATCH -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86850 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056447 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010899 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032001 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95613 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19287 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006908 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006908 LEXMATCH -MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95613 LEXMATCH -MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027253 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025295 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55655 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18849 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006913 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006913 LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55655 LEXMATCH -MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 LEXMATCH -MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 LEXMATCH -MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280892 LEXMATCH -MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006918 LEXMATCH -MONDO:0006921 Actinomycetales infectious disease skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis LEXMATCH -MONDO:0006927 Rickettsiaceae infectious disease skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rickettsialpox LEXMATCH -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 LEXMATCH -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 LEXMATCH -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037904 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034686 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31205 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9557 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006941 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006941 LEXMATCH -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31205 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038933 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90050 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5695 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006952 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006952 LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90050 LEXMATCH -MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035585 LEXMATCH -MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102021 LEXMATCH -MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19827 LEXMATCH -MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006956 LEXMATCH -MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006956 LEXMATCH -MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102021 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041329 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037661 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97283 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4900 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0006976 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0006976 LEXMATCH -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97283 LEXMATCH -MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 LEXMATCH -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576370 LEXMATCH -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9550 LEXMATCH -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007012 LEXMATCH -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007012 LEXMATCH -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576370 LEXMATCH -MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071135 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265234 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:107 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10147 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bor syndrome LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007029 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007029 LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:107 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:915 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15029 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007030 LEXMATCH -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:100050 LEXMATCH -MONDO:0007031 familial abdominal aortic aneurysm skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86 LEXMATCH -MONDO:0007031 familial abdominal aortic aneurysm skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9181 LEXMATCH -MONDO:0007031 familial abdominal aortic aneurysm skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007031 LEXMATCH -MONDO:0007031 familial abdominal aortic aneurysm skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007031 LEXMATCH -MONDO:0007031 familial abdominal aortic aneurysm skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100100 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033770 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2970 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7479 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:100100 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007032 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007032 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:100100 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2970 LEXMATCH -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:100100 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265268 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:974 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5739 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007034 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007034 LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:974 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000452 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100800 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001080 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:15 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8173 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007037 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007037 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:100800 LEXMATCH -MONDO:0007037 Achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:15 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029271 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101000 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:637 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7193 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007039 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007039 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101000 LEXMATCH -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:637 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002943 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101200 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001193 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:87 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5833 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007041 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007041 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101200 LEXMATCH -MONDO:0007041 Apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:87 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101400 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175699 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:794 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7598 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007042 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007042 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101400 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:794 LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220658 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:710 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7380 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007043 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007043 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:710 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101600 LEXMATCH -MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 LEXMATCH -MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15030 LEXMATCH -MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101800 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101805 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931762 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1786 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:494 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007045 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007045 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101805 LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1786 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101850 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545044 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:38 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:125 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007047 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007047 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101850 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:38 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069445 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101900 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265971 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79151 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16707 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007048 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007048 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101900 LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79151 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99725 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007052 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102370 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:969 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007055 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007055 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102370 LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:969 LEXMATCH -MONDO:0007056 acroosteolysis skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102400 LEXMATCH -MONDO:0007056 acroosteolysis skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15031 LEXMATCH -MONDO:0007056 acroosteolysis skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102400 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102500 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917715 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:955 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:508 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007057 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007057 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102500 LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:955 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102510 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863307 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:957 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:512 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007058 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007058 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102510 LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:957 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102520 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495490 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:971 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:514 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007059 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007059 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102520 LEXMATCH -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:971 LEXMATCH -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 LEXMATCH -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15032 LEXMATCH -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102530 LEXMATCH -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 LEXMATCH -MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102530 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102650 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:973 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:377 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007062 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007062 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102650 LEXMATCH -MONDO:0007062 adactylia, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:973 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066367 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102700 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:277 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5748 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:102700 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007064 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007064 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:102700 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:277 LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:102700 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103050 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:550 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007068 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007068 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103050 LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001294 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103200 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001529 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36397 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5750 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007070 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007070 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103200 LEXMATCH -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36397 LEXMATCH -MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103230 LEXMATCH -MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85138 LEXMATCH -MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15033 LEXMATCH -MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007071 LEXMATCH -MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103230 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103285 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863204 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:978 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:384 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:103285 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007072 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007072 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103285 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:978 LEXMATCH -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:103285 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103300 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:989 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:68 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007073 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007073 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103300 LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:989 LEXMATCH -MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103420 LEXMATCH -MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18165 LEXMATCH -MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103420 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103500 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391816 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:42665 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7772 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:103500 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007077 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007077 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103500 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:42665 LEXMATCH -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:103500 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103580 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3494506 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79443 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7486 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007078 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007078 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103580 LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79443 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103900 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260386 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:403 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2790 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hyperaldosteronism type i LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007080 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007080 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103900 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:403 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:700 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15035 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007082 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104000 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:701 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007082 LEXMATCH -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104000 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1010 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:604 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:104100 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007083 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007083 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104100 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1010 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:104100 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104130 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1008 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:607 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007085 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007085 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104130 LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1008 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104200 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88918 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:624 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007086 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007086 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104200 LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88918 LEXMATCH -MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104290 LEXMATCH -MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15036 LEXMATCH -MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104290 LEXMATCH -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104300 LEXMATCH -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9465 LEXMATCH -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:104300 LEXMATCH -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104300 LEXMATCH -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:104300 LEXMATCH -MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104310 LEXMATCH -MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12799 LEXMATCH -MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:104310 LEXMATCH -MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104310 LEXMATCH -MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:104310 LEXMATCH -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 LEXMATCH -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15037 LEXMATCH -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104500 LEXMATCH -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 LEXMATCH -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104500 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100034 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16932 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007093 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007093 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104510 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100034 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104510 LEXMATCH -MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 LEXMATCH -MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15038 LEXMATCH -MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104530 LEXMATCH -MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 LEXMATCH -MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104530 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104570 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863006 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1028 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:647 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelo-onycho-hypohidrotic syndrome LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007095 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007095 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:104570 LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1028 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105120 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85448 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2339 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:105120 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agel amyloidosis LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007097 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007097 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105120 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85448 LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:105120 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100008 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16930 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007098 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007098 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105150 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100008 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 LEXMATCH -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105150 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105200 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85450 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8282 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007099 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007099 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105200 LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85450 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206245 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85447 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16754 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label attrv30m amyloidosis LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007100 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007100 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105210 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85447 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105210 LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary localized cutaneous amyloidosis LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353220 LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17533 LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007101 LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007101 LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353220 LEXMATCH -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105400 LEXMATCH -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:105400 LEXMATCH -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105400 LEXMATCH -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:105400 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90020 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9239 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007104 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007104 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105500 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90020 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105550 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888102 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18396 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:105550 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105550 LEXMATCH -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:105550 LEXMATCH -MONDO:0007108 anal canal carcinoma skos:closeMatch Orphanet:424013 Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424013 LEXMATCH -MONDO:0007108 anal canal carcinoma skos:closeMatch Orphanet:424013 Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21772 LEXMATCH -MONDO:0007108 anal canal carcinoma skos:closeMatch Orphanet:424013 Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007108 LEXMATCH -MONDO:0007108 anal canal carcinoma skos:closeMatch Orphanet:424013 Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007108 LEXMATCH -MONDO:0007108 anal canal carcinoma skos:closeMatch Orphanet:424013 Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424013 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105600 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271934 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98870 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2002 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007109 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007109 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105600 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98870 LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15039 LEXMATCH -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105650 LEXMATCH -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105800 LEXMATCH -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18320 LEXMATCH -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:105800 LEXMATCH -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105800 LEXMATCH -MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:105800 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105805 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1387721 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99092 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16895 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007112 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007112 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105805 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99092 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049004 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105830 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:72 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5810 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007113 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007113 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105830 LEXMATCH -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:72 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066017 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105835 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63442 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:671 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007114 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007114 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105835 LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63442 LEXMATCH -MONDO:0007115 angioma serpiginosum, autosomal dominant skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106050 LEXMATCH -MONDO:0007115 angioma serpiginosum, autosomal dominant skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10189 LEXMATCH -MONDO:0007115 angioma serpiginosum, autosomal dominant skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106050 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106070 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1062 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:676 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary neurocutaneous malformation LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007116 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007116 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106070 LEXMATCH -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1062 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106190 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468666 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17843 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:106190 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated generalized anhidrosis with normal sweat glands LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007118 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007118 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106190 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468666 LEXMATCH -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:106190 LEXMATCH -MONDO:0007119 isolated aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250923 LEXMATCH -MONDO:0007119 isolated aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5816 LEXMATCH -MONDO:0007119 isolated aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007119 LEXMATCH -MONDO:0007119 isolated aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007119 LEXMATCH -MONDO:0007119 isolated aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250923 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106220 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862868 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1069 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:685 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007120 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007120 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106220 LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1069 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106250 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1072 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:696 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007123 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007123 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106250 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1072 LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106260 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1071 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6571 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:106260 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007124 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007124 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106260 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1071 LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:106260 LEXMATCH -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2206 LEXMATCH -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:842 LEXMATCH -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis LEXMATCH -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007127 LEXMATCH -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007127 LEXMATCH -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2206 LEXMATCH -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106600 LEXMATCH -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18244 LEXMATCH -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106600 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99125 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16896 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007130 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007130 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106700 LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99125 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106750 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862844 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69125 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16682 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007131 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007131 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106750 LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69125 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106995 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862841 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1487 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4083 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:106995 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007134 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007134 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106995 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1487 LEXMATCH -MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:106995 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107000 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90390 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15040 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007135 LEXMATCH -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107000 LEXMATCH -MONDO:0007136 hereditary anorectal anomalies skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107100 LEXMATCH -MONDO:0007136 hereditary anorectal anomalies skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107100 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107200 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88620 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9486 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007137 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007137 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107200 LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88620 LEXMATCH -MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107250 LEXMATCH -MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107250 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265246 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:857 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7784 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007142 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007142 LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:857 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107500 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862682 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1110 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:739 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007143 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007143 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107500 LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1110 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1114 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5835 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007145 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007145 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107600 LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1114 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3403 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uhl anomaly LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007152 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107970 LEXMATCH -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:107970 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108010 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46724 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3020 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:108010 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007154 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007154 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108010 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46724 LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:108010 LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:108120 LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108120 LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:108120 LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 LEXMATCH -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108120 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862472 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1154 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4047 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007158 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007158 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108145 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1154 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108145 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862471 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1144 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:784 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007159 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007159 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108200 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1144 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108300 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90653 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5018 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007160 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007160 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108300 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90653 LEXMATCH -MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108420 LEXMATCH -MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15041 LEXMATCH -MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108420 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108500 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720416 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9602 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial paroxysmal ataxia LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007163 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007163 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108500 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108600 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970107 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251282 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17206 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic ataxia type 1 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007164 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007164 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108600 LEXMATCH -MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251282 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108650 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862441 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1182 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16560 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia with congenital miosis LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007165 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007165 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108650 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1182 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108720 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1190 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9287 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:108720 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007167 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007167 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108720 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1190 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:108720 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108721 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:56305 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10608 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:108721 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007168 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007168 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108721 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:56305 LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:108721 LEXMATCH -MONDO:0007170 atresia of external auditory canal and conductive deafness skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108760 LEXMATCH -MONDO:0007170 atresia of external auditory canal and conductive deafness skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18274 LEXMATCH -MONDO:0007170 atresia of external auditory canal and conductive deafness skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108760 LEXMATCH -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 LEXMATCH -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18611 LEXMATCH -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block LEXMATCH -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108770 LEXMATCH -MONDO:0007172 atrial septal defect 1 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108800 LEXMATCH -MONDO:0007172 atrial septal defect 1 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108800 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108900 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502353 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1479 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16566 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007173 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007173 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108900 LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1479 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024984 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108950 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024054 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:844 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16550 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007174 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007174 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108950 LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:844 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108985 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862382 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86813 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16757 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:108985 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007176 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007176 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:108985 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86813 LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:108985 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109000 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862381 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:114 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8663 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007177 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007177 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109000 LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:114 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109150 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024408 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98757 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6801 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007182 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007182 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109150 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98757 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109300 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862319 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1228 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:813 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007185 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007185 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109300 LEXMATCH -MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1228 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062804 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109400 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004779 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:377 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7166 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:109400 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007187 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007187 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109400 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:377 LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:109400 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109500 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862299 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2285 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1037 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007188 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007188 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109500 LEXMATCH -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2285 LEXMATCH -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109543 LEXMATCH -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15042 LEXMATCH -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109543 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004213 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109650 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004943 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:117 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:848 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007191 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007191 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109650 LEXMATCH -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:117 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15043 LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc LEXMATCH -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109720 LEXMATCH -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402075 LEXMATCH -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17670 LEXMATCH -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007194 LEXMATCH -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007194 LEXMATCH -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402075 LEXMATCH -MONDO:0007195 bifid nose, autosomal dominant skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109740 LEXMATCH -MONDO:0007195 bifid nose, autosomal dominant skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15044 LEXMATCH -MONDO:0007195 bifid nose, autosomal dominant skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109740 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109900 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339085 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1253 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:201 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007198 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007198 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109900 LEXMATCH -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1253 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110050 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796197 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1252 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4238 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007200 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007200 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:110050 LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1252 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:126 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:23 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007201 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007201 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:126 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes type 1 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:110100 LEXMATCH -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:110100 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110150 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862259 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1259 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:912 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007202 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007202 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:110150 LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1259 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112200 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346072 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1059 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5940 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007203 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007203 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112200 LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1059 LEXMATCH -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 LEXMATCH -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112240 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862177 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85182 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10072 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:112250 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007205 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007205 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112250 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85182 LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:112250 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112300 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457014 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1262 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:932 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007207 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007207 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112300 LEXMATCH -MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1262 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112310 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432201 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1263 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:933 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:112310 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007208 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007208 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112310 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1263 LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:112310 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112350 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862172 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3344 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5232 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007209 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007209 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112350 LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3344 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112410 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862170 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1276 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:967 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007211 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007211 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112410 LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1276 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112430 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862169 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2946 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:968 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007212 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007212 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112430 LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2946 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862162 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1278 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:972 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007214 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007214 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112450 LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1278 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112500 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862151 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93388 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:978 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007215 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007215 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112500 LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93388 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112600 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93396 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:979 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007216 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007216 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112600 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93396 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112800 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93394 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:990 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007218 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007218 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112800 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93394 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112910 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862130 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93382 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:983 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007219 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007219 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:112910 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93382 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572385 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18009 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007220 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007220 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572385 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113000 LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113000 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537093 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113100 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862103 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93384 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:986 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113100 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007221 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007221 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113100 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93384 LEXMATCH -MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113100 LEXMATCH -MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113300 LEXMATCH -MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113300 LEXMATCH -MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113300 LEXMATCH -MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113300 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113310 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862100 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1118 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2331 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007225 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007225 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113310 LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1118 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113400 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1246 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:971 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007226 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007226 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113400 LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1246 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862092 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3168 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4869 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007227 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007227 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113450 LEXMATCH -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3168 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536242 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113477 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862082 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1292 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:918 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007230 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007230 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113477 LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1292 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113480 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931421 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1295 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16562 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007231 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007231 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113480 LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1295 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113500 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93304 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10429 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113500 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007232 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007232 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113500 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93304 LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113500 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113600 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141022 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16968 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007233 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007233 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113600 LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141022 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113620 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1297 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3212 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchio-oculo-facial syndrome LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007235 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007235 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113620 LEXMATCH -MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1297 LEXMATCH -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113650 LEXMATCH -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-fraser syndrome LEXMATCH -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113650 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113670 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180176 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9450 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113670 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007237 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007237 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113670 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180176 LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113670 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113800 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:312 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1039 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant epidermolytic ichthyosis LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007239 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007239 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113800 LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:312 LEXMATCH -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113900 LEXMATCH -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1093 LEXMATCH -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113900 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006595 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053518 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067184 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:543 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5973 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:113970 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007243 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007243 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113970 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:543 LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:113970 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114000 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020497 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1310 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1051 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114000 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007244 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007244 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114000 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1310 LEXMATCH -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114000 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114030 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861975 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2678 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3967 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007245 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007245 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114030 LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2678 LEXMATCH -MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9598 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114140 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861964 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79141 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16705 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007248 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007248 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114140 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79141 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114150 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1319 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1062 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007249 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007249 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114150 LEXMATCH -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1319 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295016 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9448 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007250 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007250 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114200 LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295016 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114290 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861922 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10027 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007251 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007251 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114290 LEXMATCH -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220666 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:376 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2553 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114300 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007252 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007252 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114300 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:376 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114300 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049010 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88673 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16773 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007256 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007256 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114550 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88673 LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114550 LEXMATCH -MONDO:0007257 candidiasis, familial, 1 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114580 LEXMATCH -MONDO:0007257 candidiasis, familial, 1 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114580 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114620 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676032 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363705 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17571 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007259 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007259 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114620 LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363705 LEXMATCH -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 LEXMATCH -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:115150 LEXMATCH -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome LEXMATCH -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115150 LEXMATCH -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:115150 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1104 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300751 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18615 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007269 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007269 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115200 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300751 LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:115200 LEXMATCH -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115210 LEXMATCH -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18070 LEXMATCH -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115210 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115250 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406817 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53296 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9799 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007271 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007271 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115250 LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53296 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115300 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199285 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18301 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17090 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:115300 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007272 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007272 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115300 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199285 LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:115300 LEXMATCH -MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115310 LEXMATCH -MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10546 LEXMATCH -MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115310 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115470 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:195 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:26 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007276 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007276 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115470 LEXMATCH -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:195 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115645 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1373 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5554 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007277 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007277 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115645 LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1373 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115650 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115650 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98988 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007278 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007278 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115660 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15046 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115660 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 LEXMATCH -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115660 LEXMATCH -MONDO:0007280 cataract 8 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115665 LEXMATCH -MONDO:0007280 cataract 8 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115665 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1144 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115700 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007281 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115700 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98989 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007281 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98990 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007281 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007281 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007281 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115800 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18233 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115800 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 LEXMATCH -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115800 LEXMATCH -MONDO:0007283 cataract 42 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115900 LEXMATCH -MONDO:0007283 cataract 42 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115900 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116100 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116100 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116100 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007284 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1377 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15047 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007285 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116200 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007285 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116200 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98984 LEXMATCH -MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007285 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116300 LEXMATCH -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116300 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18234 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116400 LEXMATCH -MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116600 LEXMATCH -MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116600 LEXMATCH -MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007288 LEXMATCH -MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007288 LEXMATCH -MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116700 LEXMATCH -MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116700 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116800 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116800 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116800 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007290 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99842 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6893 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007293 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007293 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116920 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99842 LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116920 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178145 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007294 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751951 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6014 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007294 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007294 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:598 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007294 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117000 LEXMATCH -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:117000 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117100 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376532 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1945 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10287 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007295 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007295 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117100 LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1945 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117210 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861736 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217012 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9975 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:117210 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007296 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007296 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117210 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217012 LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:117210 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117300 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861735 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97346 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9169 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007297 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007297 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117300 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97346 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117360 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861732 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:208513 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10480 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007298 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007298 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117360 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:208513 LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 LEXMATCH -MONDO:0007300 cerebral sarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117600 LEXMATCH -MONDO:0007300 cerebral sarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117600 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117650 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265342 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1393 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6026 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007301 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007301 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117650 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1393 LEXMATCH -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118100 LEXMATCH -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15049 LEXMATCH -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118100 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118200 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270912 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101082 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1246 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:118200 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007307 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007307 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118200 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101082 LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:118200 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118210 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99946 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1248 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2a1 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007308 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007308 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118210 LEXMATCH -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99946 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118220 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270911 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101081 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1245 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:118220 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007309 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007309 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118220 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101081 LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:118220 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118300 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931686 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90658 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9190 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007311 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007311 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118300 LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90658 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118330 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267034 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1221 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:412 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007313 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007313 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118330 LEXMATCH -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1221 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070535 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118400 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:184 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6036 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:118400 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007315 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007315 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118400 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:184 LEXMATCH -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:118400 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056944 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268882 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9233 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007316 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007316 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118420 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268882 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053870 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085280 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:804 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007318 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007318 LEXMATCH -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118600 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1416 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1292 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:118600 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007319 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007319 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118600 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1416 LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:118600 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118651 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79346 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16715 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007322 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007322 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118651 LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79346 LEXMATCH -MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118830 LEXMATCH -MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118830 LEXMATCH -MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215600 LEXMATCH -MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209919 LEXMATCH -MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007329 LEXMATCH -MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215600 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118980 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66630 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16673 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital pseudoarthrosis of the clavicle LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007330 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007330 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118980 LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66630 LEXMATCH -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119100 LEXMATCH -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15050 LEXMATCH -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119100 LEXMATCH -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119300 LEXMATCH -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome LEXMATCH -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119300 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119500 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1300 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3242 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:119500 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007334 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007334 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119500 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1300 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:119500 LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119530 LEXMATCH -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:119530 LEXMATCH -MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119540 LEXMATCH -MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate LEXMATCH -MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119540 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795898 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2016 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1391 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007337 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007337 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119550 LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2016 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119570 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99772 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18243 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16907 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007338 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007338 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119570 LEXMATCH -MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99772 LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861536 LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1997 LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2071 LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007339 LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007339 LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1997 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119600 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008928 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1452 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6118 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007340 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007340 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119600 LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1452 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119650 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861515 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1453 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5532 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007341 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007341 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119650 LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1453 LEXMATCH -MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 LEXMATCH -MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119800 LEXMATCH -MONDO:0007342 clubfoot skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 LEXMATCH -MONDO:0007342 clubfoot skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119800 LEXMATCH -MONDO:0007342 clubfoot skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 LEXMATCH -MONDO:0007342 clubfoot skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119800 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119900 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217059 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17117 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:119900 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007343 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007343 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119900 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217059 LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:119900 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009807 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120000 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1457 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5828 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007345 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007345 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120000 LEXMATCH -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1457 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120040 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3233 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9418 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007346 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007346 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120040 LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3233 LEXMATCH -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120100 LEXMATCH -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15051 LEXMATCH -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas LEXMATCH -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120100 LEXMATCH -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 LEXMATCH -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120200 LEXMATCH -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 LEXMATCH -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120200 LEXMATCH -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 LEXMATCH -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120200 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120300 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98945 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1436 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007351 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007351 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120300 LEXMATCH -MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98945 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120330 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852759 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1475 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4106 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007352 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007352 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120330 LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1475 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120400 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852752 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1471 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1437 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007353 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007353 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120400 LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1471 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120430 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morning glory disc anomaly LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120430 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98947 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1438 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma of optic disc LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007354 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007354 LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98947 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120433 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795902 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1473 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1440 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007355 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007355 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120433 LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1473 LEXMATCH -MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120435 LEXMATCH -MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15052 LEXMATCH -MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:120435 LEXMATCH -MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120435 LEXMATCH -MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:120435 LEXMATCH -MONDO:0007360 branchiootic syndrome 2 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120502 LEXMATCH -MONDO:0007360 branchiootic syndrome 2 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15053 LEXMATCH -MONDO:0007360 branchiootic syndrome 2 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120502 LEXMATCH -MONDO:0007361 C1 inhibitor deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169147 LEXMATCH -MONDO:0007361 C1 inhibitor deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007361 LEXMATCH -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120970 LEXMATCH -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6145 LEXMATCH -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:120970 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220668 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:115 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5899 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007363 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007363 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121050 LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:115 LEXMATCH -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 LEXMATCH -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:121200 LEXMATCH -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121200 LEXMATCH -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:121200 LEXMATCH -MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121201 LEXMATCH -MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15054 LEXMATCH -MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121201 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852576 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1551 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1522 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypocupremia LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007368 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007368 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121270 LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1551 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019866 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79273 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6619 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:121300 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007369 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007369 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121300 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79273 LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:121300 LEXMATCH -MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121400 LEXMATCH -MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18049 LEXMATCH -MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121400 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121800 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98967 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9277 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007374 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007374 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121800 LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98967 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121820 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98956 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9732 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:121820 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007375 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007375 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121820 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98956 LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:121820 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121850 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562113 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98970 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16879 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007376 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007376 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121850 LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98970 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121900 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1641846 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98962 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9677 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:121900 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007377 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007377 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:121900 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98962 LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:121900 LEXMATCH -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18212 LEXMATCH -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior polymorphous corneal dystrophy LEXMATCH -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 LEXMATCH -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122000 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339277 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98954 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9688 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007379 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007379 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98954 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122200 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98964 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9678 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:122200 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007380 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007380 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122200 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98964 LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:122200 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122400 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852551 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293381 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17338 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007381 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007381 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122400 LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293381 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122430 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930866 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1051 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4636 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007382 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007382 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122430 LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1051 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3194 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1531 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007383 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007383 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122440 LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3194 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231013 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10034 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007384 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007384 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122450 LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231013 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458718 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10822 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007385 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007385 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122455 LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458718 LEXMATCH -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122470 LEXMATCH -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:122470 LEXMATCH -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome LEXMATCH -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122470 LEXMATCH -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:122470 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2391 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1551 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007388 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007388 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122580 LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2391 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1797 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:122600 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007389 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122600 LEXMATCH -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:122600 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122780 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852513 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1508 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1558 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007392 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007392 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122780 LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1508 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122880 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1529 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1571 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:122880 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007395 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007395 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122880 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1529 LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:122880 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122900 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432263 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1798 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2016 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007396 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007396 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122900 LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1798 LEXMATCH -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 LEXMATCH -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1581 LEXMATCH -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:123000 LEXMATCH -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123000 LEXMATCH -MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:123000 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123050 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852501 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157832 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16984 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007398 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007398 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123050 LEXMATCH -MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157832 LEXMATCH -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 LEXMATCH -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18045 LEXMATCH -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123100 LEXMATCH -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 LEXMATCH -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18045 LEXMATCH -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123100 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123150 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795998 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1540 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6796 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:123150 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007400 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007400 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123150 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1540 LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:123150 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123155 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1538 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:998 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007401 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007401 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123155 LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1538 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123400 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:282166 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17307 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007403 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007403 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123400 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:282166 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123400 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123450 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6213 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:123450 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy 5p LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007404 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007404 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123450 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281 LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:123450 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123500 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:207 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6206 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007405 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007405 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123500 LEXMATCH -MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:207 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027756 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123550 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340992 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91138 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6386 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007407 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007407 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123550 LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91138 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123560 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852454 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1547 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8174 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007409 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007409 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123560 LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1547 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91396 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16797 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007410 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007410 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123570 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91396 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123570 LEXMATCH -MONDO:0007411 cutis laxa, autosomal dominant 1 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123700 LEXMATCH -MONDO:0007411 cutis laxa, autosomal dominant 1 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15055 LEXMATCH -MONDO:0007411 cutis laxa, autosomal dominant 1 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123700 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123790 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852406 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1555 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:332 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:123790 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis gyrata-acanthosis nigricans-craniosynostosis syndrome LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007412 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007412 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123790 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1555 LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:123790 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123853 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852396 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2674 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9487 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007413 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007413 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123853 LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2674 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071283 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123880 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6542 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007414 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007414 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:123880 LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15056 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124000 LEXMATCH -MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:124000 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023369 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124200 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022595 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:218 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6243 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007417 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007417 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124200 LEXMATCH -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:218 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124480 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79499 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4732 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007420 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007420 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124480 LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79499 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124490 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3232 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1684 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007421 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007421 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124490 LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3232 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124500 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3092 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:124500 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007422 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007422 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124500 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494 LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:124500 LEXMATCH -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124900 LEXMATCH -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:124900 LEXMATCH -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:124900 LEXMATCH -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:124900 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125230 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852278 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3241 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1686 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007428 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007428 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125230 LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3241 LEXMATCH -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125250 LEXMATCH -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15057 LEXMATCH -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:125250 LEXMATCH -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125250 LEXMATCH -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:125250 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125350 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852222 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412206 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17692 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:125350 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007434 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007434 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125350 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412206 LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:125350 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125370 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751781 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5643 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:125370 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007435 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007435 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125370 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:125370 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125400 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125400 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399379 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99789 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1807 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007436 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007436 LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99789 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125420 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99791 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1806 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007437 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007437 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125420 LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99791 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125440 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852201 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99792 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1808 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007438 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007438 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125440 LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99792 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125490 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166260 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12796 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007441 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007441 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125490 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166260 LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125500 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166265 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10144 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007442 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007442 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125500 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166265 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1166 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16557 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007443 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007443 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1166 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125520 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125520 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125595 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86920 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8550 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007445 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007445 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125595 LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86920 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:493342 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9806 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007447 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007447 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125630 LEXMATCH -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:493342 LEXMATCH -MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125640 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852144 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1660 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1816 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007449 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007449 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125640 LEXMATCH -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1660 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurogenic diabetes insipidus LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125700 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:30925 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18602 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16629 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary central diabetes insipidus LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007450 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007450 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125700 LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:30925 LEXMATCH -MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125800 LEXMATCH -MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15058 LEXMATCH -MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125800 LEXMATCH -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125850 LEXMATCH -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3418 LEXMATCH -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125850 LEXMATCH -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125851 LEXMATCH -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10657 LEXMATCH -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:125851 LEXMATCH -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:125851 LEXMATCH -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:125851 LEXMATCH -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126050 LEXMATCH -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15059 LEXMATCH -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:126050 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126190 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2868 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16612 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007461 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007461 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:126190 LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2868 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852022 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85192 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16739 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007470 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007470 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:126550 LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85192 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126600 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832174 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75376 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1912 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:126600 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial drusen LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007471 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007471 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:126600 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75376 LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:126600 LEXMATCH -MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126700 LEXMATCH -MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15060 LEXMATCH -MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:126700 LEXMATCH -MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:126700 LEXMATCH -MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:126700 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013799 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013261 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:233 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6288 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007473 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007473 LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:233 LEXMATCH -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2616 LEXMATCH -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5667 LEXMATCH -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome LEXMATCH -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007477 LEXMATCH -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007477 LEXMATCH -MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2616 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127000 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93325 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:83 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007478 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007478 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127000 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93325 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127300 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265309 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3224 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007481 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007481 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127300 LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127350 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851986 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1765 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1994 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007482 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007482 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127350 LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1765 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127400 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406775 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:41 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:334 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007483 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007483 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127400 LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:41 LEXMATCH -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127550 LEXMATCH -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6299 LEXMATCH -MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127550 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127600 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265966 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352657 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17524 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007486 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007486 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127600 LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352657 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127800 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432282 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1822 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2019 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007489 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007489 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127800 LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1822 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127820 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300233 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2767 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1128 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007490 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007490 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127820 LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2767 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128100 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013423 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:256 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15061 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2027 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset primary dystonia LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007492 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007492 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128100 LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:256 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128101 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860315 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98805 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10138 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007493 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007493 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128101 LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98805 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98808 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9817 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:128230 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007495 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007495 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128230 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98808 LEXMATCH -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:128230 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128235 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868681 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71517 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9628 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007496 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007496 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128235 LEXMATCH -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71517 LEXMATCH -MONDO:0007503 ear without helix skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128800 LEXMATCH -MONDO:0007503 ear without helix skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128800 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128980 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2405 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2195 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007504 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007504 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128980 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2405 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129200 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1658 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2336 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:129200 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007507 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007507 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129200 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1658 LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:129200 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1991 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007508 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129400 LEXMATCH -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:129400 LEXMATCH -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 LEXMATCH -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18591 LEXMATCH -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129490 LEXMATCH -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 LEXMATCH -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129490 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129500 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:189 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2056 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007510 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007510 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129500 LEXMATCH -MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:189 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129510 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851858 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1818 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2055 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007511 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007511 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129510 LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1818 LEXMATCH -MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129600 LEXMATCH -MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15062 LEXMATCH -MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129600 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129850 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795933 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1895 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2074 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007519 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007519 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129850 LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1895 LEXMATCH -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129900 LEXMATCH -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15063 LEXMATCH -MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:129900 LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:287 LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2088 LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classical ehlers-danlos syndrome LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007522 LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007522 LEXMATCH -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:287 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130020 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268337 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:285 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2081 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermobile ehlers-danlos syndrome LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007523 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007523 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130020 LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:285 LEXMATCH -MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130050 LEXMATCH -MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130050 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1899 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2084 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:130060 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasia eds LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrochalasia ehlers-danlos syndrome LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007525 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007525 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130060 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1899 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:130060 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylodysplastic ehlers-danlos syndrome LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1869122 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75496 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9991 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007526 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007526 LEXMATCH -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75496 LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75392 LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12474 LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peds LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontal eds LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontal ehlers-danlos syndrome LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007527 LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007527 LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75392 LEXMATCH -MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221271 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79148 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10103 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007529 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007529 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130100 LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79148 LEXMATCH -MONDO:0007533 elliptocytosis 2 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130600 LEXMATCH -MONDO:0007533 elliptocytosis 2 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15064 LEXMATCH -MONDO:0007533 elliptocytosis 2 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130600 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050344 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004903 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:116 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3343 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007534 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007534 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:116 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130650 LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:130650 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010456 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130710 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265797 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1928 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2104 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007536 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007536 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130710 LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1928 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130720 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851710 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2789 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9873 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007537 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007537 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130720 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2789 LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100032 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007538 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:broadMatch-INVERSE mondo:0007538 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:broadMatch rdf:ID orphanet:100032 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130900 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130900 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130950 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2672 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3949 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:130950 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007539 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007539 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130950 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2672 LEXMATCH -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:130950 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028190 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131100 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025267 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:652 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3829 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007540 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007540 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131100 LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:652 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011989 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1328 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1072 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007542 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007542 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131300 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1328 LEXMATCH -MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131440 LEXMATCH -MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131440 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131705 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79411 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10010 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007548 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007548 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131705 LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79411 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131750 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231568 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2139 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007549 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007549 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131750 LEXMATCH -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231568 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131760 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79396 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2141 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa simplex, dowling-meara type LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007550 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007550 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131760 LEXMATCH -MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79396 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131800 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79400 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2146 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007551 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007551 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131800 LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79400 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131850 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79410 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2155 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:131850 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007552 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007552 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131850 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79410 LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:131850 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79399 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2147 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007554 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007554 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131900 LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79399 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131950 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79401 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2148 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007555 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007555 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131950 LEXMATCH -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79401 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131960 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79397 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9737 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007556 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007556 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:131960 LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79397 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132090 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851549 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:25968 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2170 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007558 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007558 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132090 LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:25968 LEXMATCH -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132100 LEXMATCH -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15065 LEXMATCH -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132100 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132300 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278193 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166433 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17029 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007560 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007560 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132300 LEXMATCH -MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166433 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132400 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93308 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2180 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007561 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007561 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132400 LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93308 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132450 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166011 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17012 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:132450 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007562 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007562 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132450 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166011 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:132450 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035040 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206711 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91414 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9452 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:132600 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007564 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007564 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132600 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91414 LEXMATCH -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:132600 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:211 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9707 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007565 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007565 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132700 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:211 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 LEXMATCH -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132700 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132800 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65748 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3090 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007566 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007566 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132800 LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65748 LEXMATCH -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 LEXMATCH -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9876 LEXMATCH -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:132900 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133000 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851502 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231031 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17157 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007570 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007570 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133000 LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231031 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014805 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90026 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6377 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007571 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007571 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133020 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90026 LEXMATCH -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133020 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133100 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90042 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9843 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary familial polycythemia LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007572 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007572 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133100 LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90042 LEXMATCH -MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133180 LEXMATCH -MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15066 LEXMATCH -MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133180 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133190 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851481 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1955 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:59 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007574 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007574 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133190 LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1955 LEXMATCH -MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133239 LEXMATCH -MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133239 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133690 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851428 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1962 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2202 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007584 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007584 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133690 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1962 LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133700 LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2204 LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133700 LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133700 LEXMATCH -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133700 LEXMATCH -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133701 LEXMATCH -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2205 LEXMATCH -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133701 LEXMATCH -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133701 LEXMATCH -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133701 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930867 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3023 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4638 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007587 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007587 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133705 LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3023 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133750 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851412 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1964 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2213 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007588 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007588 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133750 LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1964 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15068 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133780 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90050 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007589 LEXMATCH -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133780 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399354 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141145 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16971 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007590 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007590 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133900 LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141145 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134200 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851399 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2809 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16609 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007592 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007592 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:134200 LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2809 LEXMATCH -MONDO:0007600 primary Fanconi syndrome skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary fanconi renotubular syndrome LEXMATCH -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134610 LEXMATCH -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15069 LEXMATCH -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:134610 LEXMATCH -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:134610 LEXMATCH -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:134610 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016386 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134750 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015773 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:47612 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8234 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007603 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007603 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:134750 LEXMATCH -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:47612 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1988 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:61 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007604 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007604 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:134780 LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1988 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135100 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:337 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6445 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis ossificans progressiva LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007606 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007606 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135100 LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:337 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067736 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346010 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:122 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2322 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birt-hogg-dubé syndrome LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007607 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007607 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135150 LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:122 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079218 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:873 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15070 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1820 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:135290 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007608 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007608 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135290 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:873 LEXMATCH -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:135290 LEXMATCH -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135300 LEXMATCH -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6509 LEXMATCH -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135300 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135400 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2026 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2324 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007610 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007610 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135400 LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2026 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851112 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2027 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3056 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007612 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007612 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135550 LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2027 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302995 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:45358 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12590 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007614 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007614 LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:45358 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135750 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2378 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:155 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:135750 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007615 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007615 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135750 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2378 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:135750 LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:498494 Mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror-image polydactyly LEXMATCH -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135900 LEXMATCH -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15072 LEXMATCH -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:135900 LEXMATCH -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome LEXMATCH -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135900 LEXMATCH -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:135900 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135950 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931545 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1937 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2123 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007618 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007618 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135950 LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1937 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136000 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289465 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12550 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007619 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007619 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136000 LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289465 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136120 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342895 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79292 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6450 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disease LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007620 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007620 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136120 LEXMATCH -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79292 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136140 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729582 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2044 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6455 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007621 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007621 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136140 LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2044 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136300 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343108 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2047 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2347 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007624 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007624 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136300 LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2047 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136480 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850996 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91498 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10355 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007626 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007626 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136480 LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91498 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136500 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79133 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16524 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007627 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007627 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136500 LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79133 LEXMATCH -MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 LEXMATCH -MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2253 LEXMATCH -MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007628 LEXMATCH -MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136520 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75327 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9179 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:136550 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007630 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007630 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136550 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75327 LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:136550 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136680 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950122 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:347 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2375 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007635 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007635 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136680 LEXMATCH -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:347 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391474 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12642 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:136760 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007636 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007636 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136760 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391474 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:136760 LEXMATCH -MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136800 LEXMATCH -MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18216 LEXMATCH -MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136800 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227796 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13809 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007639 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007639 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136880 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227796 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 LEXMATCH -MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136880 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136900 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59181 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10511 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16480 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sorsby pseudoinflammatory fundus dystrophy LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007640 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007640 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:136900 LEXMATCH -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59181 LEXMATCH -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440987 LEXMATCH -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21844 LEXMATCH -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007642 LEXMATCH -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007642 LEXMATCH -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440987 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137200 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324442 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12353 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137200 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive axonal neuropathy with neuromyotonia LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007646 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007646 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137200 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324442 LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137200 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708349 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26106 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10900 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007648 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007648 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26106 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060707 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137245 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52417 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6485 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007650 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007650 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137245 LEXMATCH -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52417 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137270 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850899 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2069 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2438 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007651 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007651 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137270 LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2069 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017868 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137280 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017155 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2494 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2436 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137280 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007652 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007652 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137280 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2494 LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137280 LEXMATCH -MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 LEXMATCH -MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300229 LEXMATCH -MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137360 LEXMATCH -MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 LEXMATCH -MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137360 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137440 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017495 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:356 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7690 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137440 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007656 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007656 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137440 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:356 LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137440 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435329 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17713 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007660 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007660 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137575 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435329 LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 LEXMATCH -MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137600 LEXMATCH -MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3026 LEXMATCH -MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137600 LEXMATCH -MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137750 LEXMATCH -MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9485 LEXMATCH -MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137750 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137763 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842025 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2085 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2483 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007666 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007666 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137763 LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2085 LEXMATCH -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 LEXMATCH -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251639 LEXMATCH -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10070 LEXMATCH -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007667 LEXMATCH -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007667 LEXMATCH -MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251639 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137920 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431693 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93111 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10221 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007669 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007669 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137920 LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93111 LEXMATCH -MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69735 LEXMATCH -MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12827 LEXMATCH -MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007670 LEXMATCH -MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007670 LEXMATCH -MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69735 LEXMATCH -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84090 LEXMATCH -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15019 LEXMATCH -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007671 LEXMATCH -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007671 LEXMATCH -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84090 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018381 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841984 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83454 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16728 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomatosis LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007672 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007672 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:138000 LEXMATCH -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83454 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138770 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841854 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2090 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2523 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:138770 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007679 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007679 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:138770 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2090 LEXMATCH -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:138770 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138790 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841853 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2091 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1671 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007680 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007680 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:138790 LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2091 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138800 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276399 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17278 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007681 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007681 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:138800 LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276399 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138930 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2097 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2559 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007683 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007683 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:138930 LEXMATCH -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2097 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139090 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272302 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:721 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2562 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007686 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007686 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:139090 LEXMATCH -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:721 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139210 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796081 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2588 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2572 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:139210 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007688 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007688 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:139210 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2588 LEXMATCH -MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:139210 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139300 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970109 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178345 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12494 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007690 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007690 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:139300 LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178345 LEXMATCH -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 LEXMATCH -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2932 LEXMATCH -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007691 LEXMATCH -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139393 LEXMATCH -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18211 LEXMATCH -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:139393 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068636 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841696 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2220 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:143 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis cubiti LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007693 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007693 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:139600 LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2220 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841693 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1927 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2593 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007696 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007696 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:139750 LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1927 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072361 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140000 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841679 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2438 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2594 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:140000 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007698 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007698 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:140000 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2438 LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:140000 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140350 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931042 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2118 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5668 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:140350 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007700 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007700 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:140350 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2118 LEXMATCH -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:140350 LEXMATCH -MONDO:0007701 progressive familial heart block type II skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140400 LEXMATCH -MONDO:0007701 progressive familial heart block type II skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4879 LEXMATCH -MONDO:0007701 progressive familial heart block type II skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:140400 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140450 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841657 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1342 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2614 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007702 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007702 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:140450 LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1342 LEXMATCH -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140850 LEXMATCH -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:140850 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058423 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141000 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221025 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2330 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:70 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007708 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007708 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:141000 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2330 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141300 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015458 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1214 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7338 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007710 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007710 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:141300 LEXMATCH -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1214 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841640 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1241 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2633 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007711 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007711 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:141350 LEXMATCH -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1241 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141400 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2549 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3653 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007712 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007712 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:141400 LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2549 LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221083 LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17137 LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007713 LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007713 LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221083 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141750 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795917 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98791 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16862 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007716 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007716 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:141750 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98791 LEXMATCH -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142340 LEXMATCH -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142340 LEXMATCH -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142623 LEXMATCH -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15076 LEXMATCH -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142623 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158025 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16989 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007725 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007725 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142630 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158025 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142669 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2114 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2690 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007726 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007726 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142669 LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2114 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142680 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:32960 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8457 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:142680 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007727 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007727 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142680 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:32960 LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:142680 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050469 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142900 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:392 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6666 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007732 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007732 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142900 LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:392 LEXMATCH -MONDO:0007733 holoprosencephaly 3 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142945 LEXMATCH -MONDO:0007733 holoprosencephaly 3 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142945 LEXMATCH -MONDO:0007734 holoprosencephaly 4 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142946 LEXMATCH -MONDO:0007734 holoprosencephaly 4 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:142946 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143000 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840475 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91413 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6670 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007735 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007735 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143000 LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91413 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143050 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3265 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2748 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humero-radial synostosis LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007737 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007737 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143050 LEXMATCH -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3265 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143095 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263463 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13169 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007738 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007738 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143095 LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263463 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070668 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020179 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6677 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007739 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007739 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143100 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399 LEXMATCH -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:143100 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143200 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840452 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:898 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7871 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007740 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007740 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143200 LEXMATCH -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:898 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143470 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79506 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18075 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16724 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007744 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007744 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143470 LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79506 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143860 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542657 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17984 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007747 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007747 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143860 LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542657 LEXMATCH -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143870 LEXMATCH -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18583 LEXMATCH -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143870 LEXMATCH -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 LEXMATCH -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:143890 LEXMATCH -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143890 LEXMATCH -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:143890 LEXMATCH -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144010 LEXMATCH -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8588 LEXMATCH -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:144010 LEXMATCH -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144010 LEXMATCH -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:144010 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071311 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144150 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263420 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:409 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2824 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007756 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007756 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144150 LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:409 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144190 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840428 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1336 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16563 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007757 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007757 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144190 LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1336 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2199 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2826 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic palmoplantar keratoderma of vörner LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007758 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007758 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144200 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2199 LEXMATCH -MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144250 LEXMATCH -MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15077 LEXMATCH -MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144250 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530849 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6704 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007762 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007762 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144650 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530849 LEXMATCH -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell adenocarcinoma LEXMATCH -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell carcinoma LEXMATCH -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144700 LEXMATCH -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:144700 LEXMATCH -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144700 LEXMATCH -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:144700 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2790 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:390 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:144750 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007764 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007764 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144750 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2790 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:144750 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144750 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144755 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443098 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17753 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007765 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007765 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144755 LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443098 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144800 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77296 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8593 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007766 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007766 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144800 LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77296 LEXMATCH -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 LEXMATCH -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18253 LEXMATCH -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145000 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145001 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704981 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99880 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10829 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007768 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007768 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145001 LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99880 LEXMATCH -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 LEXMATCH -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145250 LEXMATCH -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 LEXMATCH -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18073 LEXMATCH -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria LEXMATCH -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145250 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145260 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840389 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88938 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16775 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007772 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007772 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145260 LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88938 LEXMATCH -MONDO:0007776 hypersensitivity pneumonitis, familial skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145300 LEXMATCH -MONDO:0007776 hypersensitivity pneumonitis, familial skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8240 LEXMATCH -MONDO:0007776 hypersensitivity pneumonitis, familial skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145300 LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3363 LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145600 LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99741 LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome LEXMATCH -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007783 LEXMATCH -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145650 LEXMATCH -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145650 LEXMATCH -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145650 LEXMATCH -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145650 LEXMATCH -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145680 LEXMATCH -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145680 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840362 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1023 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8206 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized hypertrichosis, ambras type LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007787 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007787 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145701 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1023 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145701 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145900 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011195 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64748 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9204 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145900 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007790 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007790 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145900 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64748 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145900 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068704 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93372 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2796 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007791 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007791 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145980 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93372 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145980 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840347 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101049 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9758 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007792 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007792 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101049 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145981 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145981 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020967 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146000 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410529 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:429 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6724 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007793 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007793 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146000 LEXMATCH -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:429 LEXMATCH -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146110 LEXMATCH -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2897 LEXMATCH -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146110 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146160 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2491 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2908 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian duct anomalies-limb anomalies syndrome LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007795 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007795 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146160 LEXMATCH -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2491 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146200 LEXMATCH -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146200 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146255 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840333 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2237 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2911 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146255 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007797 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007797 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146255 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2237 LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146255 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146390 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1598 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8631 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007800 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007800 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146390 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1598 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261974 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20818 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007800 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007800 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261974 LEXMATCH -MONDO:0007802 hypospadias 3, autosomal skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146450 LEXMATCH -MONDO:0007802 hypospadias 3, autosomal skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18184 LEXMATCH -MONDO:0007802 hypospadias 3, autosomal skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146450 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064060 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393571 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7079 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007803 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007803 LEXMATCH -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146510 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265220 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:672 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7305 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007804 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007804 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146510 LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:672 LEXMATCH -MONDO:0007805 hypotrichosis 2 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146520 LEXMATCH -MONDO:0007805 hypotrichosis 2 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18093 LEXMATCH -MONDO:0007805 hypotrichosis 2 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146520 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146590 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840296 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79503 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2954 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007808 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007808 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146590 LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79503 LEXMATCH -MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome LEXMATCH -MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146750 LEXMATCH -MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146750 LEXMATCH -MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146750 LEXMATCH -MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146750 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146800 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:455 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2966 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146800 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007813 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007813 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146800 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:455 LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146800 LEXMATCH -MONDO:0007814 immune deficiency, familial variable skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146830 LEXMATCH -MONDO:0007814 immune deficiency, familial variable skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2984 LEXMATCH -MONDO:0007814 immune deficiency, familial variable skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146830 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147060 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2314 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6800 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147060 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007818 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007818 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147060 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2314 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147060 LEXMATCH -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 LEXMATCH -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147250 LEXMATCH -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 LEXMATCH -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4877 LEXMATCH -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147250 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147251 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2287 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2419 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007820 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007820 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147251 LEXMATCH -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2287 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066407 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147421 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238190 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3896 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007827 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007827 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147421 LEXMATCH -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611 LEXMATCH -MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147480 LEXMATCH -MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15079 LEXMATCH -MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147480 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147750 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327918 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2307 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:269 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147750 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007836 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007836 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147750 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2307 LEXMATCH -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147750 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796002 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2316 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:378 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147770 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007837 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007837 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147770 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2316 LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147770 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147791 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795841 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2308 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:307 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147791 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007838 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007838 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147791 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2308 LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147791 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063429 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147800 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220686 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:916 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5642 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007839 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007839 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147800 LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:916 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147891 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840061 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1509 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3030 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147891 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007841 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007841 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147891 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1509 LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147891 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147900 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268349 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2295 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3054 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007842 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007842 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147900 LEXMATCH -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2295 LEXMATCH -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147920 LEXMATCH -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome LEXMATCH -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome LEXMATCH -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome LEXMATCH -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147920 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3070 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3070 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:147950 LEXMATCH -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:147950 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:160 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007845 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148000 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15080 LEXMATCH -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148000 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148050 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220687 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2332 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:82 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007846 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007846 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148050 LEXMATCH -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2332 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148190 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2334 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3089 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007848 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007848 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148190 LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2334 LEXMATCH +MONDO:0001633 central retinal artery occlusion skos:closeMatch Orphanet:648684 Central retinal artery occlusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007688 LEXMATCH +MONDO:0001633 central retinal artery occlusion skos:closeMatch Orphanet:648684 Central retinal artery occlusion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0007688 LEXMATCH +MONDO:0005342 IgA glomerulonephritis skos:closeMatch Orphanet:34145 Immunoglobulin A nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34145 LEXMATCH +MONDO:0005342 IgA glomerulonephritis skos:closeMatch Orphanet:34145 Immunoglobulin A nephropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0005342 LEXMATCH +MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch Orphanet:653728 Congenital insensitivity to pain syndrome, Marsili type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome LEXMATCH MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148200 LEXMATCH +MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835697 LEXMATCH MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria LEXMATCH MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148200 LEXMATCH -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148210 LEXMATCH -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:148210 LEXMATCH -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148210 LEXMATCH -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:148210 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148350 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835672 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2202 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3094 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007852 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007852 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148350 LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2202 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148360 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538574 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17977 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007853 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007853 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148360 LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538574 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148370 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50943 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8275 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007854 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007854 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148370 LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50943 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148500 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2198 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3102 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007856 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007856 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148500 LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2198 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148520 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835663 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86919 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16766 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007857 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007857 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148520 LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86919 LEXMATCH -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148600 LEXMATCH -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15081 LEXMATCH -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratodermia palmoplantaris papulosa, buschke-fischer-brauer type LEXMATCH -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148600 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369999 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007859 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370002 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007859 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9172 LEXMATCH -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835650 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2200 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3098 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007860 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007860 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148730 LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2200 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148820 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:896 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5523 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007862 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007862 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148820 LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:896 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053712 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148840 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206085 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33543 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3117 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007863 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007863 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148840 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33543 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022739 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2346 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3122 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007864 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007864 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:149000 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2346 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051452 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90308 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16788 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007864 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007864 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:149000 LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90308 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149200 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2698 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3125 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:149200 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007866 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007866 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:149200 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2698 LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:149200 LEXMATCH -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149400 LEXMATCH -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:149400 LEXMATCH -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disease LEXMATCH -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:149400 LEXMATCH -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:149400 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141083 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007871 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149700 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:451612 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17784 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007871 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007871 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:149700 LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:451612 LEXMATCH -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265269 LEXMATCH -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2363 LEXMATCH -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6848 LEXMATCH -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007872 LEXMATCH -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007872 LEXMATCH -MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2363 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050638 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023003 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7801 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:150230 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007874 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007874 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150230 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502 LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:150230 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150250 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175778 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:503 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6860 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007875 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007875 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150250 LEXMATCH -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:503 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150260 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2808 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5509 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007876 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007876 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150260 LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2808 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060786 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2373 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6865 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007878 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007878 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150280 LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2373 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150300 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265756 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1202 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3194 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007879 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007879 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150300 LEXMATCH -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1202 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023871 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150360 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2374 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16596 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007880 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007880 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150360 LEXMATCH -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2374 LEXMATCH -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150400 LEXMATCH -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18245 LEXMATCH -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150400 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023234 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2380 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6874 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calvé-perthes disease LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007885 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007885 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150600 LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2380 LEXMATCH -MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150700 LEXMATCH -MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10097 LEXMATCH -MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150700 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150800 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708350 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:523 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10096 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:150800 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007888 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007888 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150800 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:523 LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:150800 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151001 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231040 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17158 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007891 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007891 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151001 LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231040 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537115 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151050 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2658 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3223 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007892 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007892 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151050 LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2658 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moynahan syndrome LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062901 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175704 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1100 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007893 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007893 LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151200 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835450 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2900 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:88 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007894 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007894 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151200 LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2900 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151210 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835437 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85166 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4382 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:151210 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007895 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007895 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151210 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85166 LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:151210 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000871 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059439 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:514 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:525 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic/monocytic leukemia LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007896 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007896 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:514 LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 LEXMATCH -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151600 LEXMATCH -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2387 LEXMATCH -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:151600 LEXMATCH -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007900 LEXMATCH -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151600 LEXMATCH -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:151600 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2699 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3440 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007904 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007904 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151630 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2699 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151660 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2348 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3126 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007906 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007906 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151660 LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2348 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151800 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023804 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2398 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6957 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:151800 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007908 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007908 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151800 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2398 LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:151800 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199276 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12925 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007909 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007909 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151900 LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199276 LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:536 LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18695 LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007915 LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007915 LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:536 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152800 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90362 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7873 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007916 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007916 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:152800 LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90362 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835272 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86914 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9217 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007917 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007917 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:152900 LEXMATCH -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86914 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152950 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835265 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2526 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3622 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-lymphedema-chorioretinopathy syndrome LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007918 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007918 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:152950 LEXMATCH -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2526 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153100 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79452 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3328 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7220 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:153100 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007919 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007919 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153100 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79452 LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:153100 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027138 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153200 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90186 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3324 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007920 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007920 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153200 LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90186 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048244 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153300 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221348 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:662 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:184 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007921 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007921 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153300 LEXMATCH -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:662 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153400 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33001 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:333 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007922 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007922 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153400 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33001 LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265326 LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:109 LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5887 LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007924 LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007924 LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:109 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153550 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86841 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8723 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007925 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007925 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153550 LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86841 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153630 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2430 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16599 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007927 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007927 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153630 LEXMATCH -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2430 LEXMATCH -MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153670 LEXMATCH -MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15082 LEXMATCH -MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153670 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153700 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1243 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:182 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007931 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007931 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153700 LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1243 LEXMATCH -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153840 LEXMATCH -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10120 LEXMATCH -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153840 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153870 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251287 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9887 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007934 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007934 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153870 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251287 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153880 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75381 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16694 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007935 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007935 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153880 LEXMATCH -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75381 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154020 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835171 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34528 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3350 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant primary hypomagnesemia with hypocalciuria LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007937 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007937 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154020 LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34528 LEXMATCH -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 LEXMATCH -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15083 LEXMATCH -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154230 LEXMATCH -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 LEXMATCH -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15083 LEXMATCH -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154230 LEXMATCH -MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154275 LEXMATCH -MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3364 LEXMATCH -MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154275 LEXMATCH -MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154276 LEXMATCH -MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3365 LEXMATCH -MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154276 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154400 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265245 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:245 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:498 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nager syndrome LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007943 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007943 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154400 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:245 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:154500 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154500 LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:154500 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064583 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154600 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91412 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6972 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007946 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007946 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154600 LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91412 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284963 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6975 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007947 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007947 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154700 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284963 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026829 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024796 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:558 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16535 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007947 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007947 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154700 LEXMATCH -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:558 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154780 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265235 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:560 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6984 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:154780 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007949 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007949 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154780 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:560 LEXMATCH -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:154780 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026891 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024899 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98292 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6987 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007950 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007950 LEXMATCH -MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98292 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155050 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220692 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1248 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6992 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maxillonasal dysplasia LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007953 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007953 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155050 LEXMATCH -MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1248 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155145 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835087 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1993 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3439 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007956 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007956 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155145 LEXMATCH -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1993 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155240 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99361 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16901 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007958 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007958 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155240 LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99361 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027107 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025149 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:616 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7005 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007959 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007959 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155255 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:616 LEXMATCH -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:155255 LEXMATCH -MONDO:0007961 megalencephaly, autosomal dominant skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155350 LEXMATCH -MONDO:0007961 megalencephaly, autosomal dominant skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155350 LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18472 LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155600 LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18472 LEXMATCH -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155600 LEXMATCH -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155601 LEXMATCH -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18575 LEXMATCH -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155601 LEXMATCH -MONDO:0007965 melanoma, malignant familial intraocular skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155700 LEXMATCH -MONDO:0007965 melanoma, malignant familial intraocular skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18576 LEXMATCH -MONDO:0007965 melanoma, malignant familial intraocular skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155700 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155755 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835042 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252206 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8468 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007967 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007967 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155755 LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252206 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155900 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025235 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2483 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7010 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007969 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007969 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155900 LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2483 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050284 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155950 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2485 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9474 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:155950 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007970 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007970 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155950 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2485 LEXMATCH -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:155950 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155980 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835030 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3034 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1727 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007971 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007971 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155980 LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3034 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18623 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156200 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228402 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007974 LEXMATCH -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156200 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156232 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1836 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3074 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007977 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007977 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156232 LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1836 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156250 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410530 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2499 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3560 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007979 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007979 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156250 LEXMATCH -MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2499 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537564 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156400 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265295 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33067 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:79 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007982 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007982 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156400 LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33067 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156500 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:174 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7029 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal chondrodysplasia, schmid type LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007983 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007983 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156500 LEXMATCH -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:174 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156510 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2504 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3568 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007984 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007984 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156510 LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2504 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156530 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2635 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3571 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007986 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007986 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156530 LEXMATCH -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2635 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156550 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265279 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6841 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:156550 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007987 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007987 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156550 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485 LEXMATCH -MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:156550 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220693 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2514 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3605 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007988 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007988 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156580 LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2514 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156600 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3635 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007989 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007989 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156600 LEXMATCH -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473586 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2505 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3589 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007990 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007990 LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2505 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156620 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796062 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2533 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:230 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007991 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007991 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156620 LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2533 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156700 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834935 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2536 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3637 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007992 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007992 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156700 LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2536 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156810 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834929 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2538 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3640 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007993 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007993 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156810 LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2538 LEXMATCH -MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 LEXMATCH -MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156830 LEXMATCH -MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 LEXMATCH -MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1404 LEXMATCH -MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156830 LEXMATCH -MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156850 LEXMATCH -MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156850 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157151 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834880 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2551 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5481 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007998 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0007998 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157151 LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2551 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 LEXMATCH -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157170 LEXMATCH -MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 LEXMATCH -MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15086 LEXMATCH -MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157600 LEXMATCH -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254892 LEXMATCH -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16486 LEXMATCH -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008003 LEXMATCH -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008003 LEXMATCH -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254892 LEXMATCH -MONDO:0008004 familial mitral valve prolapse skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:741 LEXMATCH -MONDO:0008004 familial mitral valve prolapse skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3687 LEXMATCH -MONDO:0008004 familial mitral valve prolapse skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008004 LEXMATCH -MONDO:0008004 familial mitral valve prolapse skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008004 LEXMATCH -MONDO:0008004 familial mitral valve prolapse skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:741 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157800 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3238 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2362 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:157800 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008005 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008005 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157800 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3238 LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:157800 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030069 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157900 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8549 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:157900 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008006 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008006 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157900 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570 LEXMATCH -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:157900 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044019 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155930 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1077 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:701 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dental ankylosis LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008007 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008007 LEXMATCH -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1077 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157980 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834759 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2563 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:178 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008008 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008008 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157980 LEXMATCH -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2563 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158000 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546966 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:573 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:93 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008009 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008009 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158000 LEXMATCH -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:573 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158170 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261112 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3773 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:158170 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008013 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008013 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158170 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261112 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:158170 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265226 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3377 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2621 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008016 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008016 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158300 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3377 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158310 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1839 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5427 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:158310 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008017 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008017 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158310 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1839 LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:158310 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063042 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158320 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:587 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6821 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008018 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008018 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158320 LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:587 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158330 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675014 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247768 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17195 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia and hyperandrogenism LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008019 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008019 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158330 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247768 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3109 LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008019 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16450 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2969 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008021 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65285 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lhermitte-duclos disease LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008021 LEXMATCH -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158350 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158500 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2579 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2417 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008023 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008023 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158500 LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2579 LEXMATCH -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158580 LEXMATCH -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18269 LEXMATCH -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158580 LEXMATCH -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158590 LEXMATCH -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18262 LEXMATCH -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158590 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209341 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13519 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008026 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008026 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158600 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209341 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 LEXMATCH -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158600 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834674 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:610 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:873 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008029 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008029 LEXMATCH -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:610 LEXMATCH -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158900 LEXMATCH -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15087 LEXMATCH -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158900 LEXMATCH -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158901 LEXMATCH -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15088 LEXMATCH -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158901 LEXMATCH -MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159050 LEXMATCH -MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15089 LEXMATCH -MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159050 LEXMATCH -MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159400 LEXMATCH -MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159400 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159550 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327919 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2585 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3865 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:159550 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008038 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008038 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159550 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2585 LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:159550 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044696 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159580 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030481 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289326 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8208 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008039 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008039 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159580 LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289326 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159595 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834582 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420611 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12765 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008040 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008040 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159595 LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420611 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159800 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834579 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2589 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3873 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008043 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008043 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159800 LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2589 LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159900 LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18616 LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:159900 LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus-dystonia syndrome LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159900 LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:159900 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159950 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834569 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2590 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3875 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008045 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008045 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:159950 LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2590 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160010 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834567 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99846 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16917 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008046 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008046 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160010 LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99846 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1719788 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37612 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16641 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008047 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008047 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37612 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:972 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008047 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160120 LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:160120 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834558 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169189 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12719 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008048 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008048 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160150 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169189 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosin storage myopathy LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160500 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59135 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10769 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008050 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008050 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160500 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59135 LEXMATCH -MONDO:0008051 tubular aggregate myopathy skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2593 LEXMATCH -MONDO:0008051 tubular aggregate myopathy skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3884 LEXMATCH -MONDO:0008051 tubular aggregate myopathy skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008051 LEXMATCH -MONDO:0008051 tubular aggregate myopathy skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008051 LEXMATCH -MONDO:0008051 tubular aggregate myopathy skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2593 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93672 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6805 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008054 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008054 LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93672 LEXMATCH -MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160800 LEXMATCH -MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6176 LEXMATCH -MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160800 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160900 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:273 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8310 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:160900 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinert myotonic dystrophy LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008056 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008056 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160900 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:273 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:160900 LEXMATCH -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160980 LEXMATCH -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15090 LEXMATCH -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome LEXMATCH -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160980 LEXMATCH -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch Orphanet:171886 Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171886 LEXMATCH -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch Orphanet:171886 Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11906 LEXMATCH -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch Orphanet:171886 Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008058 LEXMATCH -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch Orphanet:171886 Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008058 LEXMATCH -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch Orphanet:171886 Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171886 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161000 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343111 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69087 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3912 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008059 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008059 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161000 LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69087 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive nail dysplasia LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406443 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79153 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10363 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic trachyonychia LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008060 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008060 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161050 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79153 LEXMATCH -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:161050 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161200 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027341 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2614 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7160 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:161200 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008061 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008061 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161200 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2614 LEXMATCH -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:161200 LEXMATCH -MONDO:0008062 narcolepsy 1 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161400 LEXMATCH -MONDO:0008062 narcolepsy 1 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15091 LEXMATCH -MONDO:0008062 narcolepsy 1 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161400 LEXMATCH -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161550 LEXMATCH -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15092 LEXMATCH -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161550 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10111 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10111 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10111 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10111 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98904 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008070 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008070 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161800 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98904 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161900 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88659 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16772 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008071 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008071 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:161900 LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88659 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34149 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008073 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162000 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88950 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10679 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label umod-related autosomal dominant tubulointerstitial kidney disease LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008073 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008073 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162000 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88950 LEXMATCH -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335929 LEXMATCH -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93921 LEXMATCH -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4768 LEXMATCH -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008075 LEXMATCH -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008075 LEXMATCH -MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93921 LEXMATCH -MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162100 LEXMATCH -MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3955 LEXMATCH -MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuralgic amyotrophy LEXMATCH -MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162100 LEXMATCH -MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 LEXMATCH -MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162210 LEXMATCH -MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162260 LEXMATCH -MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15094 LEXMATCH -MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162260 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056420 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025269 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247709 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10225 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008082 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008082 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162300 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247709 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162300 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228343 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1222 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008083 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008083 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162350 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228343 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162350 LEXMATCH -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162400 LEXMATCH -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15095 LEXMATCH -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:162400 LEXMATCH -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162400 LEXMATCH -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:162400 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069382 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162500 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:640 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5221 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008087 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008087 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162500 LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:640 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053176 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2686 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6229 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008090 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008090 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162800 LEXMATCH -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2686 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162830 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543669 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279943 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17287 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008092 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008092 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162830 LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279943 LEXMATCH -MONDO:0008093 nevus, epidermal skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162900 LEXMATCH -MONDO:0008093 nevus, epidermal skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162900 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067193 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163000 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3986 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008094 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008094 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163000 LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163200 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2612 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10291 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:163200 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008097 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008097 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163200 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2612 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:163200 LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermal nevus syndrome LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163400 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432231 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2633 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3554 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia, nievergelt type LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008098 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008098 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163400 LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2633 LEXMATCH -MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163500 LEXMATCH -MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15096 LEXMATCH -MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163500 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163700 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2456 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2259 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008101 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008101 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163700 LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2456 LEXMATCH -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163800 LEXMATCH -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18284 LEXMATCH -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163800 LEXMATCH -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163950 LEXMATCH -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7223 LEXMATCH -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:163950 LEXMATCH -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome LEXMATCH -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:163950 LEXMATCH -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:163950 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164180 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796092 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1647 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:106 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008108 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008108 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164180 LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1647 LEXMATCH -MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164185 LEXMATCH -MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164185 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063691 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164200 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2710 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7239 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008111 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008111 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164200 LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2710 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164220 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2353 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2930 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008113 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008113 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164220 LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2353 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164280 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391641 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17624 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008115 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008115 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164280 LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391641 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052181 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164300 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270952 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:270 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7245 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008116 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008116 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164300 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:270 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164330 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834013 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2724 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:238 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008118 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008118 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164330 LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2724 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164400 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98755 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4071 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008119 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008119 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164400 LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98755 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164745 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93328 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3643 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008123 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008123 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164745 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93328 LEXMATCH -MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164750 LEXMATCH -MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18586 LEXMATCH -MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164750 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164900 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833872 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2741 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4365 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008127 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008127 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164900 LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2741 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165150 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833835 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2743 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3236 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008130 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008130 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165150 LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2743 LEXMATCH -MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165199 LEXMATCH -MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:402 LEXMATCH -MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165199 LEXMATCH -MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165200 LEXMATCH -MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15098 LEXMATCH -MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165200 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67036 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10203 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:165300 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008133 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008133 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165300 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67036 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:165300 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165500 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98673 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15099 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9890 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:165500 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008134 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008134 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165500 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98673 LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:165500 LEXMATCH -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:637061 Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4510723 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165590 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833796 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2756 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4061 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008137 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008137 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165590 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2756 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165600 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833795 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98606 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16858 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008138 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008138 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165600 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98606 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833792 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2760 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4129 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008139 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008139 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165660 LEXMATCH -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2760 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165700 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3314 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4131 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008142 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008142 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165700 LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3314 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014642 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014084 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:296 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7251 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008145 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008145 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166000 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:296 LEXMATCH -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216796 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8694 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008146 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008146 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166200 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216796 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166200 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216804 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10142 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008147 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008147 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166210 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216804 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166210 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268363 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8696 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008148 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008148 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166220 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216820 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166220 LEXMATCH -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 LEXMATCH -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15100 LEXMATCH -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166230 LEXMATCH -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 LEXMATCH -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166230 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166250 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2645 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4142 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglosphonic dysplasia LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008150 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008150 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166250 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2645 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53697 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8698 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008151 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008151 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166260 LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53697 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166300 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674705 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2774 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3818 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:166300 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008152 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008152 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166300 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2774 LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:166300 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048902 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166350 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2762 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:109 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008153 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008153 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166350 LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2762 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166450 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432264 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2777 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:391 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008155 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008155 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166450 LEXMATCH -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2777 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179239 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:383 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008156 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008156 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166600 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53 LEXMATCH -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 LEXMATCH -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:166700 LEXMATCH -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166700 LEXMATCH -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:166700 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166705 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833698 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1562 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:351 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008158 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008158 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166705 LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1562 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2791 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4168 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008161 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008161 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166750 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2791 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculootodental syndrome LEXMATCH -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166750 LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833691 LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2792 LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4169 LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008163 LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008163 LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2792 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166900 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98868 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16867 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008165 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008165 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166900 LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98868 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064257 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149951 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314473 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21375 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008168 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008168 LEXMATCH -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314473 LEXMATCH -MONDO:0008170 ovarian cancer skos:closeMatch Orphanet:213500 Ovarian cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213500 LEXMATCH -MONDO:0008170 ovarian cancer skos:closeMatch Orphanet:213500 Ovarian cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7295 LEXMATCH -MONDO:0008170 ovarian cancer skos:closeMatch Orphanet:213500 Ovarian cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008170 LEXMATCH -MONDO:0008170 ovarian cancer skos:closeMatch Orphanet:213500 Ovarian cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008170 LEXMATCH -MONDO:0008170 ovarian cancer skos:closeMatch Orphanet:213500 Ovarian cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213500 LEXMATCH -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167100 LEXMATCH -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15101 LEXMATCH -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167100 LEXMATCH -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167200 LEXMATCH -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15102 LEXMATCH -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:167200 LEXMATCH -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167200 LEXMATCH -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:167200 LEXMATCH -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167210 LEXMATCH -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15103 LEXMATCH -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167210 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167220 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833676 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1952 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4189 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008175 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008175 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167220 LEXMATCH -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1952 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033366 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167300 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030186 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2800 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4192 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008177 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008177 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167300 LEXMATCH -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2800 LEXMATCH -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167320 LEXMATCH -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:167320 LEXMATCH -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis LEXMATCH -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167320 LEXMATCH -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:167320 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167400 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833661 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46348 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12854 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008179 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008179 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167400 LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46348 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167500 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2291 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5470 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008180 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008180 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167500 LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2291 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167730 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868660 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2399 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3927 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008182 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008182 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167730 LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2399 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071757 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167750 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:675 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:705 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008183 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008183 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167750 LEXMATCH -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:675 LEXMATCH -MONDO:0008184 pancreas, dorsal, agenesis of skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167755 LEXMATCH -MONDO:0008184 pancreas, dorsal, agenesis of skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15104 LEXMATCH -MONDO:0008184 pancreas, dorsal, agenesis of skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167755 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167800 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:676 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6632 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:167800 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008185 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008185 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:167800 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:676 LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:167800 LEXMATCH -MONDO:0008192 paragangliomas 1 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168000 LEXMATCH -MONDO:0008192 paragangliomas 1 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7324 LEXMATCH -MONDO:0008192 paragangliomas 1 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168000 LEXMATCH -MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168100 LEXMATCH -MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10359 LEXMATCH -MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168100 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168300 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:684 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7325 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008195 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008195 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168300 LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:684 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168400 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2646 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4222 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008196 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008196 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168400 LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2646 LEXMATCH -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168500 LEXMATCH -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18051 LEXMATCH -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks LEXMATCH -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna LEXMATCH -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168500 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168550 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868597 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251290 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17207 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal foramina with clavicular hypoplasia LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008198 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008198 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168550 LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251290 LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411602 LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17684 LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008199 LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008199 LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411602 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171695 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008200 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168601 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18474 LEXMATCH -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168601 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168605 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868594 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178509 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10453 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:168605 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008201 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008201 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168605 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178509 LEXMATCH -MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:168605 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168860 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86789 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8709 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008205 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008205 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168860 LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86789 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168885 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868576 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1179 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4176 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008206 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008206 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:168885 LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1179 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169100 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868570 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46627 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1237 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008209 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008209 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169100 LEXMATCH -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46627 LEXMATCH -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169150 LEXMATCH -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18237 LEXMATCH -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169150 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169170 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868546 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2976 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4259 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008211 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008211 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169170 LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2976 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169500 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99027 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10587 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008215 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008215 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169500 LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99027 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169550 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868508 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2839 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16611 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008217 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008217 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169550 LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2839 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169600 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085106 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2841 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6559 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign chronic pemphigus LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008218 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008218 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169600 LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2841 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052802 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169610 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030809 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:704 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4270 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7355 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008219 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008219 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:169610 LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:704 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170100 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268532 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:742 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7473 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008221 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008221 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:170100 LEXMATCH -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:742 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170390 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37553 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9453 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008222 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008222 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:170390 LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37553 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238358 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:681 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6729 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008223 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008223 LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:681 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170500 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:682 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:195 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008224 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008224 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:170500 LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:682 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170700 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1795 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2015 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008227 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008227 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:170700 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1795 LEXMATCH -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 LEXMATCH -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 LEXMATCH -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15105 LEXMATCH -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:171300 LEXMATCH -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:171300 LEXMATCH -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:171300 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247698 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4881 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008234 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008234 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:171400 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247698 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:171400 LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171480 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868390 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2878 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4323 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008237 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008237 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:171480 LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2878 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172700 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172800 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080024 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2884 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4344 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008244 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008244 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172800 LEXMATCH -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2884 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172850 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868311 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2885 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5133 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008245 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008245 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172850 LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2885 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172870 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868310 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251295 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17208 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008246 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008246 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172870 LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251295 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172880 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868309 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3104 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4729 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008247 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008247 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:172880 LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3104 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271567 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231679 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1696 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008250 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008250 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173100 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231679 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173100 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035116 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173200 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2897 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7401 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008251 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008251 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173200 LEXMATCH -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2897 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173600 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2903 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4997 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008259 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008259 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173600 LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2903 LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2908 LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4391 LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital bullous poikiloderma LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008260 LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008260 LEXMATCH -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2908 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173700 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221039 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17136 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008261 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008261 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173700 LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221039 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036007 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173800 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032357 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2911 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7412 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008262 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008262 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173800 LEXMATCH -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2911 LEXMATCH -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173900 LEXMATCH -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18597 LEXMATCH -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:173900 LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34149 LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10801 LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disease LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant tubulointerstitial kidney disease LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008264 LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008264 LEXMATCH -MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34149 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant polycystic liver disease LEXMATCH -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174050 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4414 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174200 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93335 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008266 LEXMATCH -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174200 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174300 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868118 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2919 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4120 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:174300 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008267 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008267 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174300 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2919 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:174300 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174310 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2917 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4413 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008268 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008268 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174310 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2917 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174400 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93339 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4417 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008269 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008269 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174400 LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93339 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868114 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93336 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5289 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008270 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008270 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174500 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93336 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174600 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868113 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93337 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2256 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008271 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008271 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174600 LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93337 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063143 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93338 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9903 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008272 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008272 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174700 LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93338 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174770 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406217 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330061 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17510 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008273 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008273 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174770 LEXMATCH -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330061 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036120 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93276 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4213 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008274 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008274 LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93276 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174810 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85195 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9168 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disease LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008275 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008275 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174810 LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85195 LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329971 LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17508 LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008276 LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008276 LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329971 LEXMATCH -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 LEXMATCH -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175050 LEXMATCH -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 LEXMATCH -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175050 LEXMATCH -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 LEXMATCH -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175050 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034764 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175200 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2869 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7378 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008280 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008280 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175200 LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2869 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062907 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175500 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282207 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2930 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4427 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008283 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008283 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175500 LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2930 LEXMATCH -MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175510 LEXMATCH -MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15106 LEXMATCH -MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175510 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175690 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867999 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2935 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1617 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008286 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008286 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175690 LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2935 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053878 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175700 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265306 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:380 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6550 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008287 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008287 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175700 LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:380 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36383 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12264 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008289 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008289 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36383 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15107 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175780 LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175780 LEXMATCH -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175800 LEXMATCH -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15108 LEXMATCH -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis of mibelli LEXMATCH -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175800 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175850 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:737 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16542 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008291 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008291 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175850 LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:737 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175860 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867982 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79502 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4439 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008292 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008292 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175860 LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79502 LEXMATCH -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 LEXMATCH -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9505 LEXMATCH -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175900 LEXMATCH -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 LEXMATCH -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9505 LEXMATCH -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175900 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162565 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79276 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5732 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176000 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008294 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008294 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176000 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79276 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176000 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176090 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867968 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443057 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17749 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008295 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008295 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176090 LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443057 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176100 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443062 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17750 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008296 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008296 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176100 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443062 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95159 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008296 LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176100 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176200 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162532 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79473 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7848 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria variegata LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008297 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008297 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176200 LEXMATCH -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79473 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176240 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2730 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4065 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008298 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008298 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176240 LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2730 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036476 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032897 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:739 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5575 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008300 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008300 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:739 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176270 LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176270 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176305 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867801 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2957 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4470 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176305 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008301 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008301 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176305 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2957 LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176305 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063654 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063656 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3000 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4475 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008303 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008303 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176410 LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3000 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1552 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1626 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008305 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008305 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176450 LEXMATCH -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1552 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176500 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867773 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97345 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8344 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008306 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008306 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176500 LEXMATCH -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97345 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036794 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176670 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033300 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:740 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7467 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008310 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008310 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176670 LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:740 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176690 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261128 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2959 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4494 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008311 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008311 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176690 LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2959 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176700 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2964 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10319 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008312 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008312 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176700 LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2964 LEXMATCH -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 LEXMATCH -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18574 LEXMATCH -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176860 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016715 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176920 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085261 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:744 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7475 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008318 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008318 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176920 LEXMATCH -MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:744 LEXMATCH -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177000 LEXMATCH -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79278 LEXMATCH -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008319 LEXMATCH -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177000 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177170 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410538 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:750 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4540 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008322 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008322 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177170 LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:750 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037113 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052313 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:526 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7381 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pseudohyperaldosteronism type 1 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008323 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008323 LEXMATCH -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:526 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171871 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9145 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal pha1 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008329 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008329 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177735 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171871 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177735 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177820 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52530 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8312 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disease LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008332 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008332 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177820 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52530 LEXMATCH -MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177850 LEXMATCH -MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10104 LEXMATCH -MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177850 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177980 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867443 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2994 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2605 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008335 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008335 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177980 LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2994 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178000 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2989 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4569 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008337 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008337 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178000 LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2989 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867440 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65743 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13058 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:178110 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008338 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008338 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178110 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65743 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:178110 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178200 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867439 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2987 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4570 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008339 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008339 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178200 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2987 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015996 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178300 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91411 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18162 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16798 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008340 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008340 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178300 LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91411 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178330 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867437 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2999 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4577 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008341 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008341 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178330 LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2999 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178370 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344976 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1207 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4588 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008343 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008343 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178370 LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1207 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178550 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99931 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6763 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008346 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008346 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178550 LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99931 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178610 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60026 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16663 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008348 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008348 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178610 LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60026 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066100 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178995 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64745 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9635 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008353 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008353 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178995 LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64745 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179250 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2252 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:258 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008357 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008357 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179250 LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2252 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179270 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3026 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4627 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008358 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008358 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179270 LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3026 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536267 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179280 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931146 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3015 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:224 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008359 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008359 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179280 LEXMATCH -MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3015 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179613 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795822 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96167 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9698 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:179613 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome 8 syndrome LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008365 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008365 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179613 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96167 LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:179613 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93608 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4668 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008368 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008368 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179800 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93608 LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:179800 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037080 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179830 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:47159 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16644 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008369 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008369 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179830 LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:47159 LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068651 LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79145 LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9775 LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008371 LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008371 LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79145 LEXMATCH -MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179900 LEXMATCH -MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15109 LEXMATCH -MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179900 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180000 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75326 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16693 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008373 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008373 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180000 LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75326 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3196 LEXMATCH -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180020 LEXMATCH -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180100 LEXMATCH -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9149 LEXMATCH -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa LEXMATCH -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180100 LEXMATCH -MONDO:0008378 retinitis pigmentosa 9 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180104 LEXMATCH -MONDO:0008378 retinitis pigmentosa 9 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10382 LEXMATCH -MONDO:0008378 retinitis pigmentosa 9 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180104 LEXMATCH -MONDO:0008379 retinitis pigmentosa 10 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180105 LEXMATCH -MONDO:0008379 retinitis pigmentosa 10 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15110 LEXMATCH -MONDO:0008379 retinitis pigmentosa 10 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180105 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038916 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:790 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7563 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008380 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008380 LEXMATCH -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:790 LEXMATCH -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180210 LEXMATCH -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15111 LEXMATCH -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:180210 LEXMATCH -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180210 LEXMATCH -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:180210 LEXMATCH -MONDO:0008385 rhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny LEXMATCH -MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180500 LEXMATCH -MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10281 LEXMATCH -MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180500 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180550 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867155 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91481 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9696 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:180550 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008387 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008387 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180550 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91481 LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:180550 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180600 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4359 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008388 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008388 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180600 LEXMATCH -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169 LEXMATCH -MONDO:0008389 autosomal dominant Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3107 LEXMATCH -MONDO:0008389 autosomal dominant Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16620 LEXMATCH -MONDO:0008389 autosomal dominant Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008389 LEXMATCH -MONDO:0008389 autosomal dominant Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008389 LEXMATCH -MONDO:0008389 autosomal dominant Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3107 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180730 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867147 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3110 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4738 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008390 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008390 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180730 LEXMATCH -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3110 LEXMATCH -MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180750 LEXMATCH -MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4730 LEXMATCH -MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180750 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180800 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3115 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4741 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:180800 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-lévy syndrome LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008392 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008392 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180800 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3115 LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:180800 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353277 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17534 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008393 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008393 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180849 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353277 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180849 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175693 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:813 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4870 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008394 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008394 LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:813 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180870 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265248 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3121 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4748 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008395 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008395 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180870 LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3121 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180900 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796140 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2709 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:212 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008396 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008396 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180900 LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2709 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180920 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86815 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16759 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008397 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008397 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180920 LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86815 LEXMATCH -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181000 LEXMATCH -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18594 LEXMATCH -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid LEXMATCH -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181000 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181030 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454821 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17789 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic salivary gland adenoma LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008401 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008401 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181030 LEXMATCH -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454821 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181180 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867023 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2013 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:162 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008402 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008402 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181180 LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2013 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1003 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:241 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008403 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008403 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181250 LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1003 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181270 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2036 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:159 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008404 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008404 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181270 LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2036 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181400 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867005 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85146 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10312 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008407 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008407 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181400 LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85146 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181405 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431255 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10314 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008408 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008408 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181405 LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431255 LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608358 LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:closeMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636965 LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:closeMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008409 LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:closeMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008409 LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:closeMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636965 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181450 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866994 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3138 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:118 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008411 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008411 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181450 LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3138 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181600 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:384 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8517 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008416 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008416 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181600 LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:384 LEXMATCH -MONDO:0008417 sclerocornea, autosomal dominant skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181700 LEXMATCH -MONDO:0008417 sclerocornea, autosomal dominant skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181700 LEXMATCH -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 LEXMATCH -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181750 LEXMATCH -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 LEXMATCH -MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181750 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182150 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1968 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4873 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008421 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008421 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182150 LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1968 LEXMATCH -MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182170 LEXMATCH -MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182170 LEXMATCH -MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18380 LEXMATCH -MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182190 LEXMATCH -MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4880 LEXMATCH -MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182190 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182210 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866958 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3164 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9850 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008425 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008425 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182210 LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3164 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182212 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321551 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2462 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4861 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008426 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008426 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182212 LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2462 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067159 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338503 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3157 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7627 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label septo-optic dysplasia spectrum LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008428 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008428 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182230 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3157 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16519 LEXMATCH -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182230 LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432254 LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85191 LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:122 LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008429 LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008429 LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85191 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182280 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70573 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9344 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008433 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008433 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182280 LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70573 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182290 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795864 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:819 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8197 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008434 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008434 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182290 LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:819 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053841 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282492 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:820 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7664 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008436 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008436 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182410 LEXMATCH -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:820 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182600 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100984 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5041 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:182600 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008437 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008437 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182600 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100984 LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:182600 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182601 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866855 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100985 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4925 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008438 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008438 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182601 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100985 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182690 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931667 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2820 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2342 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008440 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008440 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182690 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2820 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182815 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866851 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2821 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4921 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008442 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008442 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182815 LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2821 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182820 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866850 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2826 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4918 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008443 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008443 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182820 LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2826 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182875 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931119 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3038 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3449 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008445 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008445 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182875 LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3038 LEXMATCH -MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182900 LEXMATCH -MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182900 LEXMATCH -MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 LEXMATCH -MONDO:0008450 spinal arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182950 LEXMATCH -MONDO:0008450 spinal arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15113 LEXMATCH -MONDO:0008450 spinal arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182950 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182960 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866784 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139518 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16953 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:182960 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008451 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008451 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182960 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139518 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:182960 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182980 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209335 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17102 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant adult-onset proximal spinal muscular atrophy LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008453 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008453 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182980 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209335 LEXMATCH -MONDO:0008454 spinal intradural arachnoid cysts skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182990 LEXMATCH -MONDO:0008454 spinal intradural arachnoid cysts skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9701 LEXMATCH -MONDO:0008454 spinal intradural arachnoid cysts skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182990 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183086 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752124 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98758 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10351 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008457 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008457 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183086 LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98758 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183090 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752121 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98756 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4072 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008458 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008458 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183090 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98756 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183300 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866745 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2063 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4963 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008460 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008460 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183300 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2063 LEXMATCH -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183600 LEXMATCH -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:183600 LEXMATCH -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly LEXMATCH -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183600 LEXMATCH -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:183600 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183700 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2439 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4260 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008465 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008465 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183700 LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2439 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183800 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866740 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2329 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4967 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008466 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008466 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183800 LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2329 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183802 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866739 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2437 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4969 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008467 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008467 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183802 LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2437 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183849 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866728 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168443 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10101 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008469 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008469 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183849 LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168443 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183900 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94068 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4987 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital spondyloepiphyseal dysplasia LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008471 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008471 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:183900 LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94068 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184000 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163668 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16996 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008472 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008472 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184000 LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163668 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184095 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263482 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:994 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008473 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008473 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184095 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263482 LEXMATCH -MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 LEXMATCH -MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15114 LEXMATCH -MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184100 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93346 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:134 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia congenita, strudwick type LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008476 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008476 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184250 LEXMATCH -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93346 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184252 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93314 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3047 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008477 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008477 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184252 LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93314 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93316 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:504 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008478 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008478 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184253 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93316 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432221 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93315 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4991 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008479 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008479 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184255 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93315 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010455 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184400 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3181 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7693 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008482 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008482 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184400 LEXMATCH -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3181 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184460 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866656 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140917 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12631 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008484 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008484 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184460 LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140917 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184500 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0259771 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:841 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5003 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008485 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008485 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184500 LEXMATCH -MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:841 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184510 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866650 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3184 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5004 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008486 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008486 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184510 LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3184 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184705 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866649 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3186 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2727 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008488 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008488 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184705 LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3186 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166100 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5021 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008490 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008490 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184840 LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166100 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042044 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3198 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5023 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008491 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008491 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3198 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184850 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184900 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861456 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2833 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5025 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008492 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008492 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184900 LEXMATCH -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2833 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185000 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3203 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4183 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008493 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008493 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185000 LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3203 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185020 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398088 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10184 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008494 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008494 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185020 LEXMATCH -MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398088 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185050 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:734 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5034 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha delta granule deficiency LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008495 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008495 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185050 LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:734 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185070 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861451 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3204 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5188 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stormorken-sjaastad-langslet syndrome LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008497 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008497 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185070 LEXMATCH -MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3204 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185120 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861448 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2863 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4856 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008499 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008499 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185120 LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2863 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185300 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3205 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7706 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:185300 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008501 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008501 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185300 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3205 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:185300 LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185480 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3465 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5598 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008503 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008503 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185480 LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3465 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042598 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185500 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003499 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3193 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:743 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008504 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008504 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185500 LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3193 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185700 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861401 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3248 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5074 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008509 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008509 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185700 LEXMATCH -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3248 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185750 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861391 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3246 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5077 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:185750 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008510 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008510 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185750 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3246 LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:185750 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861385 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3250 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8182 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008511 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008511 LEXMATCH -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3250 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1527 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008512 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861380 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93402 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5081 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008512 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008512 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185900 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93402 LEXMATCH -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:185900 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186000 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295195 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17358 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008513 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008513 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186000 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295195 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861366 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93404 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5088 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:186100 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008514 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008514 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186100 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93404 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:186100 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861355 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93405 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4434 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008515 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008515 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186200 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93405 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93406 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5089 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008516 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008516 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186300 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93406 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186350 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861347 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3259 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5090 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008517 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008517 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186350 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3259 LEXMATCH -MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186400 LEXMATCH -MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9863 LEXMATCH -MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186400 LEXMATCH -MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15115 LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186500 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186550 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1275 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:966 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008520 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008520 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186550 LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1275 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186570 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861305 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1412 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9225 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008521 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008521 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186570 LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1412 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071755 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186580 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861303 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90340 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:304 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008523 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008523 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186580 LEXMATCH -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90340 LEXMATCH -MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186700 LEXMATCH -MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:186700 LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473555 LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280774 LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21087 LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008534 LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008534 LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280774 LEXMATCH -MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187300 LEXMATCH -MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187300 LEXMATCH -MONDO:0008537 telecanthus skos:closeMatch Orphanet:98575 Syndromic telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98575 LEXMATCH -MONDO:0008537 telecanthus skos:closeMatch Orphanet:98575 Syndromic telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19505 LEXMATCH -MONDO:0008537 telecanthus skos:closeMatch Orphanet:98575 Syndromic telecanthus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008537 LEXMATCH -MONDO:0008537 telecanthus skos:closeMatch Orphanet:98575 Syndromic telecanthus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008537 LEXMATCH -MONDO:0008537 telecanthus skos:closeMatch Orphanet:98575 Syndromic telecanthus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98575 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018250 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043207 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187360 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9615 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008538 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008538 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187360 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397 LEXMATCH -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187390 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931376 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3294 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2597 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008540 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008540 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187390 LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3294 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016193 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187500 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039685 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3303 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2245 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008542 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008542 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187500 LEXMATCH -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3303 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187510 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861233 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2564 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3707 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008544 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008544 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187510 LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2564 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868678 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1860 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9295 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008546 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008546 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187600 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1860 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187600 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187601 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300257 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93274 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1402 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008547 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008547 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187601 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93274 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187760 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187770 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861197 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3317 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15116 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5184 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008551 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008551 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187760 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187770 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3317 LEXMATCH -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187800 LEXMATCH -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140957 LEXMATCH -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008552 LEXMATCH -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187800 LEXMATCH -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187900 LEXMATCH -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15117 LEXMATCH -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187900 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71493 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008554 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187950 LEXMATCH -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:187950 LEXMATCH -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 LEXMATCH -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5191 LEXMATCH -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188000 LEXMATCH -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 LEXMATCH -MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188000 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188025 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956093 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:851 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4224 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008557 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008557 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188025 LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:851 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021245 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3002 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5194 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008558 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008558 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188030 LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3002 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188150 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931366 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2251 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5199 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008562 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008562 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188150 LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2251 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188201 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1078 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4375 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008563 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008563 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188201 LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1078 LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15118 LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:188400 LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shprintzen syndrome LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188400 LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:188400 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188455 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495590 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93953 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5204 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008565 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008565 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188455 LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93953 LEXMATCH -MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188470 LEXMATCH -MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5206 LEXMATCH -MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188470 LEXMATCH -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 LEXMATCH -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188550 LEXMATCH -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 LEXMATCH -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319487 LEXMATCH -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008567 LEXMATCH -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188550 LEXMATCH -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188570 LEXMATCH -MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188570 LEXMATCH -MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188580 LEXMATCH -MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15119 LEXMATCH -MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188580 LEXMATCH -MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188700 LEXMATCH -MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15120 LEXMATCH -MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188700 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188740 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861099 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:988 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8309 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008572 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008572 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:188740 LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:988 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189500 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406735 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2228 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5587 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypodontia-dysplasia of nails syndrome LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008582 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008582 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:189500 LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2228 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049058 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162739 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:244242 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8528 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008585 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008585 LEXMATCH -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:244242 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021530 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030146 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189960 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1199 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6381 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008586 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008586 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:189960 LEXMATCH -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1199 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189961 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3348 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5235 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008587 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008587 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:189961 LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3348 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190100 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931589 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53372 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9501 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008588 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008588 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190100 LEXMATCH -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53372 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190310 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860860 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3350 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3948 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008591 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008591 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190310 LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3350 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190320 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3352 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7799 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008592 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008592 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190320 LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3352 LEXMATCH -MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190330 LEXMATCH -MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:190330 LEXMATCH -MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190330 LEXMATCH -MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:190330 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190340 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538756 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8479 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple trichodiscomas LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008594 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008594 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190340 LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538756 LEXMATCH -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190350 LEXMATCH -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7800 LEXMATCH -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:190350 LEXMATCH -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichorhinophalangeal syndrome type 1 LEXMATCH -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190350 LEXMATCH -MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:190350 LEXMATCH -MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190351 LEXMATCH -MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7802 LEXMATCH -MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:190351 LEXMATCH -MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190351 LEXMATCH -MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:190351 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860822 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3361 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5261 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008598 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008598 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190360 LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3361 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044652 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190400 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040997 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221091 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7805 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008599 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008599 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190400 LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221091 LEXMATCH -MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190440 LEXMATCH -MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18558 LEXMATCH -MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190440 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190680 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860804 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2947 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5290 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008607 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008607 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190680 LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2947 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044688 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190685 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013080 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:870 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10247 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy 21 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008608 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008608 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190685 LEXMATCH -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:870 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190900 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155017 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88629 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16768 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008610 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008610 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:190900 LEXMATCH -MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88629 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191000 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860773 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3383 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2750 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008611 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008611 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191000 LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3383 LEXMATCH -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191100 LEXMATCH -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15121 LEXMATCH -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex LEXMATCH -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191100 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191400 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860616 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2634 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3555 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008618 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008618 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191400 LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2634 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191420 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860615 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1837 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4740 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008619 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008619 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191420 LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1837 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191440 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2497 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2408 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna hypoplasia LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008620 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008620 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191440 LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2497 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432347 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1410 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5404 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008621 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008621 LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1410 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191482 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860605 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1264 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:938 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008622 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008622 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191482 LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1264 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191520 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860596 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3408 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5421 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008624 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008624 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191520 LEXMATCH -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3408 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064569 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191900 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268390 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:575 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8472 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008633 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008633 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191900 LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:575 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192050 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3411 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1910 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008636 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008636 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192050 LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3411 LEXMATCH -MONDO:0008637 bifid uvula skos:closeMatch Orphanet:99771 Bifid uvula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99771 LEXMATCH -MONDO:0008637 bifid uvula skos:closeMatch Orphanet:99771 Bifid uvula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19687 LEXMATCH -MONDO:0008637 bifid uvula skos:closeMatch Orphanet:99771 Bifid uvula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008637 LEXMATCH -MONDO:0008637 bifid uvula skos:closeMatch Orphanet:99771 Bifid uvula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008637 LEXMATCH -MONDO:0008637 bifid uvula skos:closeMatch Orphanet:99771 Bifid uvula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99771 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192315 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860518 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247691 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1217 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008641 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008641 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192315 LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247691 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066022 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192350 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:887 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5443 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008642 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008642 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192350 LEXMATCH -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:887 LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192430 LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15123 LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:192430 LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen syndrome LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192430 LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:192430 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192445 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3201 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5472 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:192445 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008645 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008645 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192445 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3201 LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:192445 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192800 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860464 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2064 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2276 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008650 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008650 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192800 LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2064 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192950 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178382 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5488 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008652 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008652 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192950 LEXMATCH -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178382 LEXMATCH -MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193000 LEXMATCH -MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18418 LEXMATCH -MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193000 LEXMATCH -MONDO:0008654 nystagmus 4, congenital, autosomal dominant skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193003 LEXMATCH -MONDO:0008654 nystagmus 4, congenital, autosomal dominant skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193003 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193090 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2967 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4522 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008659 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008659 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193090 LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2967 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193100 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342642 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89937 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16781 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193100 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008660 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008660 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193100 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89937 LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193100 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3086 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5507 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008662 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008662 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193220 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3086 LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193220 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860405 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91496 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9706 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008663 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008663 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193230 LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91496 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193240 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860403 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2997 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:427 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008665 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008665 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193240 LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2997 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193300 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019562 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:892 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7855 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193300 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008667 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008667 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193300 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:892 LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193300 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264039 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166078 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17019 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008668 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008668 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193400 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166078 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193400 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847800 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:894 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5519 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008670 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008670 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193500 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:894 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193500 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193510 LEXMATCH -MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:193510 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193530 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457013 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:952 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:497 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008673 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008673 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193530 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:952 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265224 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2053 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6466 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008675 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008675 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193700 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2053 LEXMATCH -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 LEXMATCH -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon LEXMATCH -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193900 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049644 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194050 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175702 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:904 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7891 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:194050 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008678 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008678 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194050 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:904 LEXMATCH -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:194050 LEXMATCH -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194070 LEXMATCH -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15124 LEXMATCH -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:194070 LEXMATCH -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephroblastoma LEXMATCH -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194070 LEXMATCH -MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:194070 LEXMATCH -MONDO:0008680 Wilms tumor 2 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194071 LEXMATCH -MONDO:0008680 Wilms tumor 2 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8559 LEXMATCH -MONDO:0008680 Wilms tumor 2 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194071 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194072 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206115 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:893 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5528 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008681 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008681 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194072 LEXMATCH -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:893 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070179 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194080 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950121 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5576 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008682 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008682 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194080 LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220 LEXMATCH -MONDO:0008683 Wilms tumor 3 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194090 LEXMATCH -MONDO:0008683 Wilms tumor 3 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15125 LEXMATCH -MONDO:0008683 Wilms tumor 3 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194090 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050361 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194190 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956097 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7896 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008684 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008684 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194190 LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048017 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:170 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5597 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008686 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008686 LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:170 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194350 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327917 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3466 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:39 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008688 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008688 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194350 LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3466 LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15126 LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194380 LEXMATCH -MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194400 LEXMATCH -MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194400 LEXMATCH -MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194470 LEXMATCH -MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperzincemia and hypercalprotectinemia LEXMATCH -MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194470 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200100 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000744 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:14 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15127 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008692 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008692 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200100 LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:14 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200110 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860224 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:920 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008693 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008693 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200110 LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:920 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200130 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796125 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2985 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:415 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008694 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008694 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200130 LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2985 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200150 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2388 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3956 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008695 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008695 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200150 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2388 LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200170 LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90301 LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:453 LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008696 LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008696 LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200170 LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90301 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200450 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860212 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:929 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:456 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008699 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008699 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200450 LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:929 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:931 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:376 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008700 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008700 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200500 LEXMATCH -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:931 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200600 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93299 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:459 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1a LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008701 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008701 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200600 LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93299 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93296 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8713 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 2 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008702 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008702 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93296 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93297 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008702 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200610 LEXMATCH -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:200610 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200700 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265260 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2098 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1300 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008703 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008703 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200700 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2098 LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200900 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860168 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:935 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2988 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008704 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008704 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200900 LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:935 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200950 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268410 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35121 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16636 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008705 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008705 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200950 LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35121 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200970 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860167 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2561 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:469 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008706 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008706 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200970 LEXMATCH -MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2561 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860166 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:958 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:480 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008707 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008707 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200980 LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:958 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200990 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796147 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5721 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008708 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008708 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200990 LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200995 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221054 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2096 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008709 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008709 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200995 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221054 LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 LEXMATCH -MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201000 LEXMATCH -MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15128 LEXMATCH -MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201000 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201020 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65798 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2549 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008711 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008711 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201020 LEXMATCH -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65798 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201050 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860145 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:949 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3075 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008712 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008712 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201050 LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:949 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201100 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221036 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5723 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008713 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008713 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201100 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37 LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201170 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1788 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:496 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008714 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008714 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201170 LEXMATCH -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1788 LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860118 LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1784 LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:484 LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008715 LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008715 LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1784 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201200 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238590 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2500 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6543 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008716 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008716 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201200 LEXMATCH -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2500 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201250 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:968 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:506 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008717 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008717 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201250 LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:968 LEXMATCH -MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83467 LEXMATCH -MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9766 LEXMATCH -MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008718 LEXMATCH -MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008718 LEXMATCH -MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83467 LEXMATCH -MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201310 LEXMATCH -MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15130 LEXMATCH -MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201310 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201400 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199296 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5727 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital isolated acth deficiency LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008720 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008720 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201400 LEXMATCH -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199296 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201450 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220710 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:42 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:540 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008721 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008721 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201450 LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:42 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201470 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26792 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4822 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008722 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008722 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201470 LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26792 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201475 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887523 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26793 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5508 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008723 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008723 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201475 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26793 LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201550 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2952 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10277 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008724 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008724 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201550 LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2952 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201710 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342474 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90790 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1465 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008725 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008725 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201710 LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90790 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201750 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63269 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16665 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008726 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008726 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201750 LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63269 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201810 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90791 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9152 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008727 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008727 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201810 LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90791 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90794 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12665 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008728 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008728 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201910 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90794 LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:201910 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202010 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268292 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90795 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5658 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008729 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008729 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202010 LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90795 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202110 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90793 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1469 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008730 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008730 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202110 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90793 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202110 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202150 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859978 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95700 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16839 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008731 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008731 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202150 LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95700 LEXMATCH -MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202155 LEXMATCH -MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15131 LEXMATCH -MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202155 LEXMATCH -MONDO:0008733 familial glucocorticoid deficiency skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:361 LEXMATCH -MONDO:0008733 familial glucocorticoid deficiency skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2498 LEXMATCH -MONDO:0008733 familial glucocorticoid deficiency skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008733 LEXMATCH -MONDO:0008733 familial glucocorticoid deficiency skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008733 LEXMATCH -MONDO:0008733 familial glucocorticoid deficiency skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:361 LEXMATCH -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202300 LEXMATCH -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15132 LEXMATCH -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202300 LEXMATCH -MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202355 LEXMATCH -MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15133 LEXMATCH -MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202355 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15134 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202370 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15134 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202370 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 LEXMATCH -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202370 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202400 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202400 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98880 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5761 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial afibrinogenemia LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008737 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008737 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202400 LEXMATCH -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98880 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202650 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:990 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9126 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008740 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008740 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202650 LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:990 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202660 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:991 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3086 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008741 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008741 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202660 LEXMATCH -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:991 LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:486 LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9558 LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008742 LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008742 LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:486 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202900 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3199 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5026 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008743 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008743 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202900 LEXMATCH -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3199 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203000 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859964 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2007 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:588 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008744 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008744 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203000 LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2007 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203100 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79431 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16721 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008745 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008745 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203100 LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79431 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203200 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79432 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4038 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008746 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008746 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203200 LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79432 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79433 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4039 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008747 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008747 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203290 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79433 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18331 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203300 LEXMATCH -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:203300 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203330 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932717 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94090 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10682 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008749 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008749 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203330 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94090 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203340 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859910 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2513 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3604 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008750 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008750 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203340 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2513 LEXMATCH -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203400 LEXMATCH -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203400 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:58 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5774 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008752 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008752 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203450 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:58 LEXMATCH -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:203450 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001689 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203500 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002066 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:56 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5775 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008753 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008753 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203500 LEXMATCH -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:56 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203550 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795895 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1005 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:605 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008754 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008754 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203550 LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1005 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203600 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2574 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:606 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008755 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008755 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203600 LEXMATCH -MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2574 LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2850 LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:612 LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008756 LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008756 LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2850 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001767 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203655 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:701 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15135 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:614 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008757 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008757 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203655 LEXMATCH -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:701 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062943 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:726 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5783 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008758 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008758 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203700 LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:726 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:617 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oxoglutaric aciduria LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008759 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008759 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203740 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203750 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:134 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:872 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008760 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008760 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203750 LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:134 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203780 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88919 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:625 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008762 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008762 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203780 LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88919 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068783 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203800 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268425 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5787 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008763 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008763 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203800 LEXMATCH -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64 LEXMATCH -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204000 LEXMATCH -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:635 LEXMATCH -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204000 LEXMATCH -MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204100 LEXMATCH -MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:636 LEXMATCH -MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204100 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204110 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1021 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:637 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008766 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008766 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204110 LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1021 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228346 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5897 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disease LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008767 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008767 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228346 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disease LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204200 LEXMATCH -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:204200 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228340 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6845 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln4a disease LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008768 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008768 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228340 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204300 LEXMATCH -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:204300 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disease LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204500 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228349 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3045 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln2 disease LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008769 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008769 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204500 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228349 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 LEXMATCH -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204500 LEXMATCH -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 LEXMATCH -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15136 LEXMATCH -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204650 LEXMATCH -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 LEXMATCH -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204650 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204690 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1031 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:646 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008771 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008771 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204690 LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1031 LEXMATCH -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 LEXMATCH -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9495 LEXMATCH -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204700 LEXMATCH -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 LEXMATCH -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204700 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204750 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79154 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16708 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008774 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008774 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204750 LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79154 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204870 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339273 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98957 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9647 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008777 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008777 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:204870 LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98957 LEXMATCH -MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 LEXMATCH -MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 LEXMATCH -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205100 LEXMATCH -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15137 LEXMATCH -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:205100 LEXMATCH -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:205100 LEXMATCH -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:205100 LEXMATCH -MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205250 LEXMATCH -MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15138 LEXMATCH -MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:205250 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051875 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205400 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039292 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31150 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7731 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008783 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008783 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:205400 LEXMATCH -MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31150 LEXMATCH -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 LEXMATCH -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:205950 LEXMATCH -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 LEXMATCH -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18381 LEXMATCH -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:205950 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206100 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83642 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12360 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008787 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008787 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206100 LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83642 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206200 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209981 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10957 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008788 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008788 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206200 LEXMATCH -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209981 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206500 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1048 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5808 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008791 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008791 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206500 LEXMATCH -MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1048 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206550 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859784 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199279 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17089 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008792 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008792 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206550 LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199279 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206700 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431401 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1065 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008795 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008795 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206700 LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1065 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206750 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859782 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1064 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:690 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008796 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008796 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206750 LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1064 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002583 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206780 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99797 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5818 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008797 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008797 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206780 LEXMATCH -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99797 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206800 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94150 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16837 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia congenita totalis LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008798 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008798 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206800 LEXMATCH -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94150 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77298 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1443 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008799 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008799 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206900 LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77298 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206920 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1106 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:722 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008800 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008800 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:206920 LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1106 LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83 LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5826 LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008803 LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008803 LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207620 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859754 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1112 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3051 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008806 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008806 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207620 LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1112 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207731 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1116 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:753 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008808 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008808 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207731 LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1116 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207740 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930955 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2926 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2589 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital extensor muscle aplasia-polyneuropathy LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008809 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008809 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207740 LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2926 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268199 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309020 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:759 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008810 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008810 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207750 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309020 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207750 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207770 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795952 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3469 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:424 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xk aprosencephaly syndrome LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008811 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008811 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207770 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3469 LEXMATCH -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atelencephaly LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207780 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342280 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1133 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8509 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008812 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008812 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207780 LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1133 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049005 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078981 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2356 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008813 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008813 LEXMATCH -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2356 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062695 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207800 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268548 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5840 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:207800 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008814 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008814 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207800 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90 LEXMATCH -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:207800 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058299 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207900 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268547 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:23 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5843 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008815 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008815 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207900 LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:23 LEXMATCH -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208000 LEXMATCH -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208000 LEXMATCH -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification LEXMATCH -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208000 LEXMATCH -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208000 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208050 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859726 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3342 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:774 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208050 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008818 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008818 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208050 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3342 LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208050 LEXMATCH -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208085 LEXMATCH -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15139 LEXMATCH -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome LEXMATCH -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208085 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208100 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859721 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1143 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:790 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208100 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008823 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008823 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208100 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1143 LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208100 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859711 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1150 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:792 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008825 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008825 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208155 LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1150 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208158 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859710 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1485 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3053 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008826 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008826 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208158 LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1485 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208230 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1159 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9184 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208230 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008827 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008827 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208230 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1159 LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208230 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208250 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2848 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:306 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly-arthropathy-coxa-vara-pericarditis syndrome LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008828 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008828 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208250 LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2848 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003446 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208300 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008732 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1160 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1359 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008829 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008829 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208300 LEXMATCH -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1160 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068220 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208400 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268225 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5854 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208400 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008830 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008830 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208400 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93 LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208400 LEXMATCH -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208500 LEXMATCH -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15140 LEXMATCH -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome LEXMATCH -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208500 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068335 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208530 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97548 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6795 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208530 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008832 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008832 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208530 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97548 LEXMATCH -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208530 LEXMATCH -MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208540 LEXMATCH -MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18431 LEXMATCH -MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208540 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208850 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1188 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4644 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008838 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008838 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208850 LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1188 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003594 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004135 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5862 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208900 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008840 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008840 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208900 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208900 LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 LEXMATCH -MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208910 LEXMATCH -MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15141 LEXMATCH -MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208910 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208920 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1168 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9283 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008842 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008842 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208920 LEXMATCH -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1168 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209010 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1192 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2279 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008843 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008843 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209010 LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1192 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209300 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521802 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1195 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9595 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008846 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008846 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209300 LEXMATCH -MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1195 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209500 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859592 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86819 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16762 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008847 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008847 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209500 LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86819 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79100 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9744 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008849 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008849 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209700 LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79100 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209770 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1488 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16567 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008850 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008850 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209770 LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1488 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209885 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1231 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:819 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008853 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008853 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209885 LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1231 LEXMATCH -MONDO:0008854 Bardet-Biedl syndrome 1 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 LEXMATCH -MONDO:0008854 Bardet-Biedl syndrome 1 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:820 LEXMATCH -MONDO:0008854 Bardet-Biedl syndrome 1 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209900 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:824 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008855 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008855 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209920 LEXMATCH -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99898 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008856 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209950 LEXMATCH -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:209950 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209970 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859526 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1237 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:846 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008857 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008857 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209970 LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1237 LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210200 LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5665 LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc deficiency LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase deficiency LEXMATCH -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210200 LEXMATCH -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210210 LEXMATCH -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9151 LEXMATCH -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210210 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063985 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342907 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2882 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7653 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008863 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008863 LEXMATCH -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2882 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210350 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859487 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141333 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:882 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008864 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008864 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210350 LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141333 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859486 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:41751 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10050 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bietti crystalline dystrophy LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008865 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008865 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210370 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:41751 LEXMATCH -MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210400 LEXMATCH -MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15142 LEXMATCH -MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210400 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003650 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:30391 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12010 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated biliary atresia LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008867 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008867 LEXMATCH -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:30391 LEXMATCH -MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210600 LEXMATCH -MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15143 LEXMATCH -MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:210600 LEXMATCH -MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210600 LEXMATCH -MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:210600 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210700 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859468 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2617 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:895 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism, montreal type LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephalic primordial dwarfism, montreal type LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008870 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008870 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210700 LEXMATCH -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2617 LEXMATCH -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210710 LEXMATCH -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15144 LEXMATCH -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:210710 LEXMATCH -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome LEXMATCH -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210710 LEXMATCH -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:210710 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210720 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2637 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9844 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008872 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008872 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210720 LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2637 LEXMATCH -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210730 LEXMATCH -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15145 LEXMATCH -MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210730 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210740 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1227 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:812 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008874 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008874 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210740 LEXMATCH -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1227 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210745 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2057 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:905 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008875 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008875 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210745 LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2057 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005859 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:125 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:915 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008876 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008876 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210900 LEXMATCH -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:125 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211000 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268478 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94086 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5939 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008877 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008877 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211000 LEXMATCH -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94086 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211120 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859407 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1842 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:922 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008878 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008878 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211120 LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1842 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211180 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859405 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1270 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5950 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008879 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008879 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211180 LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1270 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211350 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432239 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1801 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10149 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008881 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008881 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211350 LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1801 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211370 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859385 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2713 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:992 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008884 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008884 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211370 LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2713 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211380 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1299 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:955 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008885 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008885 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211380 LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1299 LEXMATCH -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211400 LEXMATCH -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18054 LEXMATCH -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211400 LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch Orphanet:411501 Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411501 LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch Orphanet:411501 Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21731 LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch Orphanet:411501 Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008888 LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch Orphanet:411501 Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008888 LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:closeMatch Orphanet:411501 Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411501 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211480 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040021 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36258 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5969 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disease LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008889 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008889 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211480 LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36258 LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97229 LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9993 LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008891 LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008891 LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97229 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211600 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79306 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9802 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008892 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008892 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211600 LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79306 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211750 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796095 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1308 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5978 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008893 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008893 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211750 LEXMATCH -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1308 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211770 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796282 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1375 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1052 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008894 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008894 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211770 LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1375 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211800 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289601 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10762 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008895 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008895 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211800 LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289601 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211890 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859371 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1318 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1061 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008896 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008896 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211890 LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1318 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211910 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859359 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1327 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1067 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:211910 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008898 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008898 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211910 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1327 LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:211910 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211920 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1326 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1068 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008899 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008899 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211920 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1326 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211930 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1321 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1064 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008900 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008900 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211930 LEXMATCH -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1321 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859356 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3292 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5128 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008901 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008901 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211960 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3292 LEXMATCH -MONDO:0008904 camptomelic syndrome, long-limb type skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211990 LEXMATCH -MONDO:0008904 camptomelic syndrome, long-limb type skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1071 LEXMATCH -MONDO:0008904 camptomelic syndrome, long-limb type skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211990 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212050 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457088 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17795 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008905 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008905 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212050 LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457088 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212065 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349653 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79318 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9826 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:212065 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008907 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008907 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212065 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79318 LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:212065 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212066 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931008 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79329 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9828 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:212066 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008908 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008908 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212066 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79329 LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:212066 LEXMATCH -MONDO:0008911 cardiac lipidosis, familial skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212080 LEXMATCH -MONDO:0008911 cardiac lipidosis, familial skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15148 LEXMATCH -MONDO:0008911 cardiac lipidosis, familial skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212080 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212112 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796083 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2229 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3373 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008915 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008915 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212112 LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2229 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212135 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859327 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1354 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2613 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008917 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008917 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212135 LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1354 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212138 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342791 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:159 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1123 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008918 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008918 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212138 LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:159 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342788 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5104 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:212140 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic primary carnitine deficiency LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008919 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008919 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212140 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158 LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:212140 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212200 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1361 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6001 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008921 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008921 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212200 LEXMATCH -MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1361 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212350 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859317 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1369 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1142 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008922 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008922 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212350 LEXMATCH -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1369 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212360 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859316 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1366 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1139 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008923 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008923 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212360 LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1366 LEXMATCH -MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212500 LEXMATCH -MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:212500 LEXMATCH -MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212500 LEXMATCH -MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:212500 LEXMATCH -MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1466 LEXMATCH -MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6027 LEXMATCH -MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008926 LEXMATCH -MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008926 LEXMATCH -MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1466 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2542 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008927 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435930 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17719 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008927 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008927 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212550 LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435930 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212710 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796123 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1368 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1141 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008928 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008928 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212710 LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1368 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212780 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859309 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3258 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5084 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cenani-lenz syndrome LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008931 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008931 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212780 LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3258 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212835 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859306 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1174 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1189 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008934 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008934 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212835 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1174 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212840 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859305 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1173 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3314 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008935 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008935 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212840 LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1173 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393520 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1177 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2600 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008938 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008938 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212895 LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1177 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008033 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1398 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18720 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cerebellar agenesis LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008939 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008939 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1398 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213000 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2246 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:213000 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008939 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213000 LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:213000 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213010 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2031 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5177 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008941 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008941 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213010 LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2031 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213200 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859298 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1170 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1199 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebelloparenchymal disorder type 3 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008943 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008943 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213200 LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1170 LEXMATCH -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213300 LEXMATCH -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:213300 LEXMATCH -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome LEXMATCH -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome LEXMATCH -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213300 LEXMATCH -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:213300 LEXMATCH -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ramsay hunt syndrome LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059626 LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1980 LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6406 LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym idiopathic basal ganglia calcification LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008947 LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008947 LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1980 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213700 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238052 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:909 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5622 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008948 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008948 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213700 LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:909 LEXMATCH -MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213900 LEXMATCH -MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213900 LEXMATCH -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 LEXMATCH -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214100 LEXMATCH -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 LEXMATCH -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome LEXMATCH -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs LEXMATCH -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214100 LEXMATCH -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 LEXMATCH -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214110 LEXMATCH -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 LEXMATCH -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15149 LEXMATCH -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214110 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214150 LEXMATCH -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:214150 LEXMATCH -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214300 LEXMATCH -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15151 LEXMATCH -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214300 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214350 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406733 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1401 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1233 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008959 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008959 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214350 LEXMATCH -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1401 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214370 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90103 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16786 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label charcot-marie-tooth disease-deafness-intellectual disability syndrome LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008960 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008960 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214370 LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90103 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214400 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859198 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99948 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1252 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:214400 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008961 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008961 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214400 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99948 LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:214400 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214450 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859194 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79476 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2566 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008962 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008962 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214450 LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79476 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008415 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214500 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007965 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:167 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6035 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chédiak-higashi syndrome LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008963 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008963 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214500 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:167 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214700 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53689 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10001 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:214700 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital chloride diarrhea LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008964 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008964 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214700 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53689 LEXMATCH -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:214700 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064063 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265354 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:138 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:29 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008965 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008965 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214800 LEXMATCH -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:138 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214900 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268314 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1414 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:370 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008966 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008966 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214900 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1414 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214950 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79095 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10046 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008967 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008967 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:214950 LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79095 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215045 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50945 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:914 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008970 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008970 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215045 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50945 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215100 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859133 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309789 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6049 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008972 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008972 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215100 LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309789 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215105 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79347 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16716 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008973 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008973 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215105 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79347 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215140 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931048 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1426 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8754 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008974 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008974 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215140 LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1426 LEXMATCH -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1427 LEXMATCH -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4130 LEXMATCH -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008975 LEXMATCH -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008975 LEXMATCH -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1427 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008734 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215300 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008479 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55880 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6055 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:215300 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008977 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008977 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215300 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55880 LEXMATCH -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:215300 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008747 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215400 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1303 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008978 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008978 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215400 LEXMATCH -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178 LEXMATCH -MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215450 LEXMATCH -MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15152 LEXMATCH -MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign hereditary chorea LEXMATCH -MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215450 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215470 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859093 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1180 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:944 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008980 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008980 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215470 LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1180 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215480 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859092 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1313 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1313 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008981 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008981 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215480 LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1313 LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75377 LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10049 LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008982 LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008982 LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75377 LEXMATCH -MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215518 LEXMATCH -MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1360 LEXMATCH -MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215518 LEXMATCH -MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215520 LEXMATCH -MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1361 LEXMATCH -MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215520 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058298 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215700 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247525 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6114 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008988 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008988 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215700 LEXMATCH -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247525 LEXMATCH -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 LEXMATCH -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215800 LEXMATCH -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 LEXMATCH -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93940 LEXMATCH -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008990 LEXMATCH -MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215800 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215850 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859082 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3429 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5482 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008991 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008991 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215850 LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3429 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216100 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2319 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3060 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008992 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008992 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216100 LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2319 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216300 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859081 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2010 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1393 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008993 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008993 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216300 LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2010 LEXMATCH -MONDO:0008994 cleidocranial dysplasia, recessive form skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10623 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216340 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857663 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3472 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:331 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:216340 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008995 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008995 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216340 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3472 LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:216340 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90324 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1417 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008998 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008998 LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90324 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049066 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216550 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:193 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6126 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:216550 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008999 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0008999 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216550 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:193 LEXMATCH -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:216550 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216700 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857624 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79147 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13331 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009000 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009000 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216700 LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79147 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216800 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91494 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16802 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009001 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009001 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216800 LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91494 LEXMATCH -MONDO:0009002 coloboma, ocular, autosomal recessive skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216820 LEXMATCH -MONDO:0009002 coloboma, ocular, autosomal recessive skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216820 LEXMATCH -MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216900 LEXMATCH -MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9649 LEXMATCH -MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216900 LEXMATCH -MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216950 LEXMATCH -MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15155 LEXMATCH -MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216950 LEXMATCH -MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217000 LEXMATCH -MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1452 LEXMATCH -MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217000 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217080 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495589 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1873 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1463 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:217080 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009007 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009007 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217080 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1873 LEXMATCH -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:217080 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535849 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217085 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931046 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1338 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4166 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:217085 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009008 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009008 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217085 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1338 LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:217085 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398621 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:722 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4380 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009009 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009009 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217090 LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:722 LEXMATCH -MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022599 LEXMATCH -MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2299 LEXMATCH -MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:740 LEXMATCH -MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009010 LEXMATCH -MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009010 LEXMATCH -MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2299 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217150 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857576 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2215 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3361 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009012 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009012 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217150 LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2215 LEXMATCH -MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217300 LEXMATCH -MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18050 LEXMATCH -MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217300 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217400 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857572 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1490 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1529 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:217400 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009015 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009015 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217400 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1490 LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:217400 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217600 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1622427 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98972 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16881 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009018 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009018 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217600 LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98972 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217700 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293603 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6196 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hereditary endothelial dystrophy type ii LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009019 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009019 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217700 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293603 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025406 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217800 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024439 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98969 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6953 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009020 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009020 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217800 LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98969 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217980 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796184 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3338 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5225 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009021 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009021 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217980 LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3338 LEXMATCH -MONDO:0009022 corpus callosum, agenesis of skos:closeMatch Orphanet:200 Isolated corpus callosum agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated corpus callosum agenesis LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218010 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857568 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1389 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1548 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009024 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009024 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218010 LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1389 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218030 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342488 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:433 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009025 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009025 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218030 LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067380 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218040 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0587248 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3071 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1550 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:218040 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009026 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009026 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218040 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3071 LEXMATCH -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:218040 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218090 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857532 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1512 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8428 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009028 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009028 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218090 LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1512 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218300 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410539 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1513 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15156 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1567 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009031 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009031 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218300 LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1513 LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432235 LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1515 LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:359 LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009032 LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009032 LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1515 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218340 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1777 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5688 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009033 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009033 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218340 LEXMATCH -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1777 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218350 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1516 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1575 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009034 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009034 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218350 LEXMATCH -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1516 LEXMATCH -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 LEXMATCH -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1582 LEXMATCH -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218400 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218450 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2872 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8586 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009036 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009036 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218450 LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2872 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218600 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265308 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1225 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1602 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009039 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009039 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218600 LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1225 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218670 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857471 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1528 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1605 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009042 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009042 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218670 LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1528 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011386 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:205 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16526 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009044 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009044 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:205 LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218900 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795914 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1380 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1614 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009045 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009045 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218900 LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1380 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265233 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2052 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6465 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009046 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009046 LEXMATCH -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2052 LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:189427 LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10824 LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009049 LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009049 LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:189427 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219090 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96253 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12867 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disease LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009050 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009050 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219090 LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96253 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219095 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857449 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2881 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1633 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009051 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009051 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219095 LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2881 LEXMATCH -MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219100 LEXMATCH -MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15157 LEXMATCH -MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219100 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219150 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35664 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16638 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009053 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009053 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219150 LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35664 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357074 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17546 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009054 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009054 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357074 LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536226 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219250 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1556 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6228 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009055 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009055 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219250 LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1556 LEXMATCH -MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219300 LEXMATCH -MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219300 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219500 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220993 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:212 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2428 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:219500 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009058 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009058 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219500 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:212 LEXMATCH -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:219500 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011762 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219700 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010674 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:586 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6233 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:219700 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009061 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009061 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219700 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:586 LEXMATCH -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:219700 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219721 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2575 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3303 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009062 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009062 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219721 LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2575 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219730 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857423 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443988 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17757 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009063 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009063 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219730 LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443988 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219750 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931013 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411641 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9756 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009064 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009064 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219750 LEXMATCH -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411641 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219900 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268626 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411634 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17685 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009066 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009066 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219900 LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411634 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010691 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:214 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6237 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009067 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009067 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220100 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:214 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220100 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 LEXMATCH -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220100 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254905 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15158 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:48 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:220110 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009068 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009068 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220110 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254905 LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:220110 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70472 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15159 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8370 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:220111 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009069 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009069 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220111 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70472 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:220111 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220120 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291386 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:941 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:234 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009070 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009070 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220120 LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:941 LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94088 LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9496 LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009071 LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009071 LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94088 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220200 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010964 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6242 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated dandy-walker malformation LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009072 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009072 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220200 LEXMATCH -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217 LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220210 LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15160 LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:220210 LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ritscher-schinzel syndrome LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3c syndrome LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220210 LEXMATCH -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:220210 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220219 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857352 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1970 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2222 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009074 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009074 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220219 LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1970 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220220 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857351 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1566 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1669 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009075 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009075 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220220 LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1566 LEXMATCH -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220290 LEXMATCH -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1697 LEXMATCH -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220290 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220500 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79500 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1685 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009079 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009079 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220500 LEXMATCH -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79500 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220600 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857344 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71271 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16686 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split hand-split foot-deafness syndrome LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009080 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009080 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220600 LEXMATCH -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71271 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221200 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363396 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12844 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009082 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009082 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221200 LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363396 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221300 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3216 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1460 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009083 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009083 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221300 LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3216 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221320 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857340 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3236 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:305 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009084 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009084 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221320 LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3236 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221350 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857339 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3239 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1705 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009085 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009085 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221350 LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3239 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221400 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857338 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3217 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2568 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009086 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009086 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221400 LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3217 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221740 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857333 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3230 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1698 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009089 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009089 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221740 LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3230 LEXMATCH -MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221745 LEXMATCH -MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18159 LEXMATCH -MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221745 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231720 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10603 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009091 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009091 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221750 LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231720 LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857316 LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2770 LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9921 LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009092 LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009092 LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2770 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221790 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857314 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1659 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1813 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009093 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009093 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221790 LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1659 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221800 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432288 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79149 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1815 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009094 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009094 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221800 LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79149 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221810 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857301 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1657 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1814 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009095 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009095 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221810 LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1657 LEXMATCH -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221900 LEXMATCH -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18167 LEXMATCH -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221900 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221995 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3145 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:259 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009099 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009099 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221995 LEXMATCH -MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3145 LEXMATCH -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222300 LEXMATCH -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222300 LEXMATCH -MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222400 LEXMATCH -MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15161 LEXMATCH -MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222400 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222448 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857277 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2143 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1899 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009104 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009104 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222448 LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2143 LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857276 LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84064 LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5258 LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009105 LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009105 LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84064 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012750 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222500 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011999 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1671 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1851 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009106 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009106 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222500 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1671 LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573253 Split cord malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diplomyelia LEXMATCH -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573278 Split cord malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split cord malformation LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222600 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:628 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6275 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dwarfism LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009107 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009107 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222600 LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:628 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058300 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222700 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268647 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:470 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3335 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009109 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009109 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222700 LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:470 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222730 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857253 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2195 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1855 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009110 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009110 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222730 LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2195 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:38874 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12347 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:222748 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009111 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009111 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222748 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:38874 LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:222748 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222765 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857242 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309796 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9429 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009112 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009112 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222765 LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309796 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222800 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:714 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1874 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:222800 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009113 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009113 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222800 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:714 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:222800 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066387 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222900 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283620 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35122 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7710 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009114 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009114 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222900 LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35122 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223000 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53690 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12311 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009115 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009115 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223000 LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53690 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223330 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857227 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2464 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3401 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009120 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009120 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223330 LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2464 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223340 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857226 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3439 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1894 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009121 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009121 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223340 LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3439 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:230 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1903 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:223360 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009123 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009123 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223360 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:230 LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:223360 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059589 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223370 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:235 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6290 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009124 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009124 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223370 LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:235 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013812 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223400 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266174 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1203 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:54 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009126 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009126 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223400 LEXMATCH -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1203 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223800 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265286 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:239 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6295 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:223800 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009130 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009130 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223800 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:239 LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:223800 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039179 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223900 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013364 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1764 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7581 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:223900 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009131 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009131 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:223900 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1764 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:223900 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013140 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1766 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1998 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009133 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009133 LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1766 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224100 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98873 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2001 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009134 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009134 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224100 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98873 LEXMATCH -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 LEXMATCH -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224120 LEXMATCH -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 LEXMATCH -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224120 LEXMATCH -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224230 LEXMATCH -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6300 LEXMATCH -MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224230 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224300 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432262 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1782 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2012 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009138 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009138 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224300 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1782 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224400 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432209 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156731 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9810 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009139 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009139 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224400 LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156731 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224410 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1865 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2026 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:224410 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia, silverman-handmaker type LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009140 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009140 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224410 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1865 LEXMATCH -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:224410 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224500 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99657 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2028 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt2 type LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009141 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009141 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224500 LEXMATCH -MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99657 LEXMATCH -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224690 LEXMATCH -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15162 LEXMATCH -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome LEXMATCH -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224690 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014075 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224700 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013481 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1880 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6313 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009144 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009144 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224700 LEXMATCH -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1880 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224750 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50944 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16649 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:224750 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009145 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009145 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224750 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50944 LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:224750 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224800 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1883 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9723 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009146 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009146 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224800 LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1883 LEXMATCH -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 LEXMATCH -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224900 LEXMATCH -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 LEXMATCH -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15163 LEXMATCH -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224900 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225040 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857053 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1812 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16578 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009149 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009149 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225040 LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1812 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225050 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1882 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2049 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009150 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009150 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225050 LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1882 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1991 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009151 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3253 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:375 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009151 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009151 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225060 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3253 LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:225060 LEXMATCH -MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225100 LEXMATCH -MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2060 LEXMATCH -MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225100 LEXMATCH -MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225200 LEXMATCH -MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15164 LEXMATCH -MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225200 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90673 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009154 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15165 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225250 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15165 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225250 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15165 LEXMATCH -MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225250 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225280 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1897 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2078 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:225280 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009155 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009155 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225280 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1897 LEXMATCH -MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:225280 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225290 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857040 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1892 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2068 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009156 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009156 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225290 LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1892 LEXMATCH -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225300 LEXMATCH -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15166 LEXMATCH -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225300 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:230851 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12613 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-valvular eds LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cveds LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-valvular ehlers-danlos syndrome LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009159 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009159 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225320 LEXMATCH -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:230851 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1901 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2089 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deds LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis eds LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatosparaxis ehlers-danlos syndrome LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009161 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009161 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225410 LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1901 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008724 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225500 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1301 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis van creveld syndrome LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009162 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009162 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225500 LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289 LEXMATCH -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225750 LEXMATCH -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15167 LEXMATCH -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225750 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225753 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856974 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166063 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:343 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009166 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009166 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225753 LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166063 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225755 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856973 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1261 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2113 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009167 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009167 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225755 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1261 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071718 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225790 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221126 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17138 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:225790 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009168 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009168 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225790 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221126 LEXMATCH -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:225790 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014663 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226000 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014117 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2022 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6336 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endomyocardial fibroelastosis LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009169 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009169 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226000 LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2022 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226200 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268416 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168601 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17038 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:226200 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009173 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009173 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226200 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168601 LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:226200 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226300 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566175 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15003 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:226300 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009174 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009174 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226300 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566175 LEXMATCH -MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:226300 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014954 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226350 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264005 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3165 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6351 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009175 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009175 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226350 LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3165 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052339 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014522 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:302 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6357 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009176 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009176 LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:302 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226440 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856969 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231556 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:299 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009177 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009177 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226440 LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231556 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79408 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6308 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym severe generalized rdeb LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009179 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009179 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226600 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79408 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226600 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226650 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226650 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79405 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa inversa LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009180 LEXMATCH -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226650 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226670 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931072 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:257 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2137 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009181 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009181 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226670 LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:257 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226700 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79404 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2153 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:226700 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz type LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009182 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009182 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226700 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79404 LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:226700 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226730 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856934 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79403 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9694 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:226730 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009183 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009183 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226730 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79403 LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:226730 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226750 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406740 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1946 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3128 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009185 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009185 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226750 LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1946 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226810 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1459 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2166 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009187 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009187 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226810 LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1459 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226850 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856929 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1951 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2168 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009188 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009188 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226850 LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1951 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847593 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93307 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9793 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009189 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009189 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226900 LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93307 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062600 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226960 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796021 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1824 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:264 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:226960 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009191 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009191 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226960 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1824 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:226960 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226980 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432217 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1667 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5589 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009192 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009192 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226980 LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1667 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2566 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9534 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009194 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009194 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226990 LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2566 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227010 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:999 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:407 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009196 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009196 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227010 LEXMATCH -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:999 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238478 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98871 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7793 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009197 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009197 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227050 LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98871 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227090 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1954 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2192 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009198 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009198 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227090 LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1954 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227210 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856896 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3172 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2216 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009200 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009200 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227210 LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3172 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227255 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931219 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1780 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5158 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009202 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009202 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227255 LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1780 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1807 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:121 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009203 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009203 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227260 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1807 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227260 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227270 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856891 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1972 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2229 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009204 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009204 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227270 LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1972 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227280 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795936 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1973 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2230 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009205 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009205 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227280 LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1973 LEXMATCH -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227300 LEXMATCH -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18630 LEXMATCH -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227300 LEXMATCH -MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227310 LEXMATCH -MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18631 LEXMATCH -MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227310 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227330 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1974 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5124 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009209 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009209 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227330 LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1974 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048930 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227400 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015499 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:326 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2237 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:227400 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009210 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009210 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227400 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:326 LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:227400 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016079 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227500 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:327 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2238 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009211 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009211 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227500 LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:327 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227600 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:328 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6404 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009212 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009212 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227600 LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:328 LEXMATCH -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 LEXMATCH -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15168 LEXMATCH -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227645 LEXMATCH -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227646 LEXMATCH -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15169 LEXMATCH -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227646 LEXMATCH -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 LEXMATCH -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15170 LEXMATCH -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia LEXMATCH -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227650 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2088 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2268 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009216 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009216 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:227810 LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2088 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228000 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268255 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:333 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6426 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:228000 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009218 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009218 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228000 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:333 LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:228000 LEXMATCH -MONDO:0009219 fascial dystrophy, congenital skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228020 LEXMATCH -MONDO:0009219 fascial dystrophy, congenital skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15171 LEXMATCH -MONDO:0009219 fascial dystrophy, congenital skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228020 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068448 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228200 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2019 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2286 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009221 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009221 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228200 LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2019 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228250 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856789 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1986 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2285 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009222 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009222 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228250 LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1986 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228300 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325448 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10127 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009223 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009223 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228300 LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325448 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228355 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1910 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2304 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009224 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009224 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228355 LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1910 LEXMATCH -MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228520 LEXMATCH -MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228520 LEXMATCH -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228550 LEXMATCH -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:228550 LEXMATCH -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228550 LEXMATCH -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:228550 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228560 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856761 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2025 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10528 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009228 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009228 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228560 LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2025 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228600 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228600 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498474 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22029 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009229 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009229 LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498474 LEXMATCH -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 LEXMATCH -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5697 LEXMATCH -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228800 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228900 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856738 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2639 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9879 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:228900 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia-complex brachydactyly syndrome LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009231 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009231 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228900 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2639 LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:228900 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228930 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856728 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2854 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2410 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009232 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009232 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228930 LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2854 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228940 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856727 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2256 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:320 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009233 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009233 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228940 LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2256 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228960 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:483 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2684 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009234 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009234 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228960 LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:483 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228980 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856718 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363989 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18651 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009235 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009235 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228980 LEXMATCH -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363989 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228990 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271257 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99179 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16900 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009236 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009236 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:228990 LEXMATCH -MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99179 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229050 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342705 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90045 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12983 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009238 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009238 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229050 LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90045 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229070 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856716 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52901 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10128 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009239 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009239 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229070 LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52901 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268609 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51208 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9279 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:229100 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009240 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009240 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229100 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51208 LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:229100 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795944 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3219 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:64 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009241 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009241 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229120 LEXMATCH -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3219 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90354 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1019 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6b LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009242 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009242 LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90354 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229400 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931720 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1791 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2390 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009247 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009247 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229400 LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1791 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019878 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229600 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016751 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:469 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6622 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:229600 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009249 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009249 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229600 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:469 LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:229600 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229700 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016756 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:348 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2400 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009251 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009251 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229700 LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:348 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229800 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268160 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2056 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6471 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009252 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009252 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229800 LEXMATCH -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2056 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229850 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220730 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2059 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3699 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009253 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009253 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229850 LEXMATCH -MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2059 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230000 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016788 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:349 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6473 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009254 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009254 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230000 LEXMATCH -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:349 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268155 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79237 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2422 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009255 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009255 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230200 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79237 LEXMATCH -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230200 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79238 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5392 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009257 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009257 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230350 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79238 LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230350 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79239 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13639 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009258 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009258 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230400 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79239 LEXMATCH -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230400 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230450 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33574 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16631 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009259 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009259 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230450 LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33574 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230500 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79255 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6479 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009260 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009260 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230500 LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79255 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230600 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79256 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10126 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009261 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009261 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230600 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79256 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230650 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79257 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2431 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009262 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009262 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230650 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79257 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2067 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:400 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009263 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009263 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230740 LEXMATCH -MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2067 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018046 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230750 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265706 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2368 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8661 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009264 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009264 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230750 LEXMATCH -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2368 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77259 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2441 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disease type 1 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009265 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009265 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230800 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77259 LEXMATCH -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230800 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77260 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2442 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disease type 2 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009266 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009266 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:230900 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77260 LEXMATCH -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:230900 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77261 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2443 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disease type 3 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009267 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009267 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231000 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77261 LEXMATCH -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:231000 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931585 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2072 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12504 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009268 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009268 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2072 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231005 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:231005 LEXMATCH -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231050 LEXMATCH -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15172 LEXMATCH -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231050 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856466 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2075 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2460 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009270 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009270 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231060 LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2075 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432255 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2078 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:413 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:231070 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009271 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009271 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231070 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2078 LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:231070 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231080 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887495 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2077 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2462 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009272 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009272 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231080 LEXMATCH -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2077 LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disease LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18365 LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231090 LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole LEXMATCH -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231090 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1802 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10297 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:231095 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009274 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009274 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231095 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1802 LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:231095 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231100 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268059 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:446 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7172 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009275 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009275 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231100 LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:446 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057473 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005129 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:274 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2470 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009276 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009276 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231200 LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:274 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98976 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18224 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2485 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009277 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009277 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231300 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98976 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98977 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18224 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009277 LEXMATCH -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231300 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231550 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:869 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:457 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009279 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009279 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231550 LEXMATCH -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:869 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268595 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:25 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6522 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009281 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009281 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231670 LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:25 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268596 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26791 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6523 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009282 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009282 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231680 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26791 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231680 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231680 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342873 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35706 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12469 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009283 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009283 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231690 LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35706 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856399 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289849 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17331 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009284 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009284 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231900 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289849 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231900 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231950 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268524 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33573 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10099 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009285 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009285 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231950 LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33573 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disease LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79258 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7864 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009287 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009287 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232200 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79258 LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232200 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232240 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79259 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15173 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2515 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009288 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009288 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232220 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232240 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79259 LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232220 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053185 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:365 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5714 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232300 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to acid maltase deficiency LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009290 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009290 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232300 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:365 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232300 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:366 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9442 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232400 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to glycogen debranching enzyme deficiency LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009291 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009291 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232400 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:366 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232400 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053249 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017923 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:367 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2520 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009292 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009292 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232500 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:367 LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018462 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232600 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:368 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6528 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to muscle glycogen phosphorylase deficiency LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009293 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009293 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232600 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:368 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053240 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017925 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6529 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:232700 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to liver glycogen phosphorylase deficiency LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009294 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009294 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232700 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:232700 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053241 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232800 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017926 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5686 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to muscle phosphofructokinase deficiency LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009295 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009295 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:232800 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:371 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3245525 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69076 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7548 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:233100 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009297 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009297 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233100 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69076 LEXMATCH -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:233100 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949595 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:243 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5671 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009299 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009299 LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:243 LEXMATCH -MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233400 LEXMATCH -MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233400 LEXMATCH -MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:642945 Perrault syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009300 LEXMATCH -MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:642945 Perrault syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009300 LEXMATCH -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233420 LEXMATCH -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15174 LEXMATCH -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:233420 LEXMATCH -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233420 LEXMATCH -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:233420 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233430 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856272 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1770 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2541 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009302 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009302 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1770 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018620 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233450 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403529 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:375 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2551 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009303 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009303 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233450 LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:375 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673536 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157949 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13587 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009306 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009306 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233650 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157949 LEXMATCH -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233690 LEXMATCH -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15175 LEXMATCH -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:233690 LEXMATCH -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233690 LEXMATCH -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:233690 LEXMATCH -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233700 LEXMATCH -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15176 LEXMATCH -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:233700 LEXMATCH -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233700 LEXMATCH -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:233700 LEXMATCH -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233710 LEXMATCH -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15177 LEXMATCH -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:233710 LEXMATCH -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233710 LEXMATCH -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:233710 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233805 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931279 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1979 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12604 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009312 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009312 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233805 LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1979 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931551 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2101 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2576 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009313 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009313 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233810 LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2101 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234000 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015526 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6558 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009315 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009315 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234000 LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234100 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018522 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2108 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:288 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009318 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009318 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234100 LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2108 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018523 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157850 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6564 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009319 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009319 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157850 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234200 LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:234200 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234250 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856198 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2107 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2586 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009320 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009320 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234250 LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2107 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234280 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856197 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2110 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3118 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009321 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009321 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234280 LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2110 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019165 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234500 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018609 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2116 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6569 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:234500 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009324 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009324 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234500 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2116 LEXMATCH -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:234500 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019263 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149530 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60041 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6164 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009326 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009326 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234700 LEXMATCH -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60041 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340548 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199241 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8527 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15027 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009329 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009329 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234810 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199241 LEXMATCH -MONDO:0009330 hemangiopericytoma, malignant skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234820 LEXMATCH -MONDO:0009330 hemangiopericytoma, malignant skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2627 LEXMATCH -MONDO:0009330 hemangiopericytoma, malignant skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234820 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856184 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2128 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2630 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009331 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009331 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235000 LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2128 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235255 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1655 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5430 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian derivatives-lymphangiectasia-polydactyly syndrome LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009333 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009333 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235255 LEXMATCH -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1655 LEXMATCH -MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235370 LEXMATCH -MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15179 LEXMATCH -MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235370 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18550 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235400 LEXMATCH -MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235500 LEXMATCH -MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15180 LEXMATCH -MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235500 LEXMATCH -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235510 LEXMATCH -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15181 LEXMATCH -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235510 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856128 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79124 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10083 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009338 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009338 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235550 LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79124 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856127 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79303 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10045 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009339 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009339 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235555 LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79303 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235700 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90031 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3672 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009340 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009340 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235700 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90031 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856113 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2152 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9673 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009341 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009341 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2152 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235730 LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:235730 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235740 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2155 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:157 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disease-deafness-polydactyly syndrome LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009342 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009342 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235740 LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2155 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235760 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2153 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:584 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009344 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009344 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235760 LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2153 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235800 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220992 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2157 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6661 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009345 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009345 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235800 LEXMATCH -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2157 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235830 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2158 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2708 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009346 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009346 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235830 LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2158 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236000 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16529 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009348 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009348 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236000 LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236100 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236100 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236100 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236100 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268936 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20979 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arhinencephaly LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009349 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009349 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268936 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236110 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2167 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2728 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009350 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009350 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236110 LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2167 LEXMATCH -MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495554 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071093 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236200 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:394 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6667 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009352 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009352 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236200 LEXMATCH -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:394 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236250 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:395 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2734 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009353 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009353 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236250 LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:395 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856057 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2169 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3576 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009354 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009354 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236270 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2169 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236270 LEXMATCH -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236400 LEXMATCH -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236400 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236500 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500135 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17922 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009359 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009359 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236500 LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500135 LEXMATCH -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 LEXMATCH -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236600 LEXMATCH -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 LEXMATCH -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236600 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236640 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856052 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3035 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2427 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009362 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009362 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236640 LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3035 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236660 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856051 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2181 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1666 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009363 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009363 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236660 LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2181 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:588 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009364 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009364 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236670 LEXMATCH -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236670 LEXMATCH -MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236680 LEXMATCH -MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15182 LEXMATCH -MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236680 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052312 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236700 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948368 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2473 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3427 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009367 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009367 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236700 LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2473 LEXMATCH -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236730 LEXMATCH -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome LEXMATCH -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ochoa syndrome LEXMATCH -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236730 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455988 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363999 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17580 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009369 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009369 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236750 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363999 LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236750 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236792 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855995 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79314 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10472 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009370 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009370 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236792 LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79314 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236795 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342737 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:939 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5662 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009371 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009371 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236795 LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:939 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268474 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79155 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10039 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:236800 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009372 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009372 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236800 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79155 LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:236800 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236900 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79156 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16709 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009373 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009373 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:236900 LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79156 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058297 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237300 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:147 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7269 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl-phosphate synthetase 1 deficiency LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009376 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009376 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:237300 LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:147 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:927 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7158 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009377 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009377 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:237310 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:927 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237400 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268630 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309147 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10267 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009378 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009378 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:237400 LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309147 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039234 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237450 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220991 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3111 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:218 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, rotor type LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009379 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009379 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:237450 LEXMATCH -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3111 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013800 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237500 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022350 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:234 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2793 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009380 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009380 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:237500 LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:234 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237900 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270210 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2312 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2791 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009383 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009383 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:237900 LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2312 LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238320 LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238320 LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 LEXMATCH -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238320 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309015 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12241 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009387 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009387 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238600 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309015 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238600 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238700 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268553 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2203 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2828 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:238700 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009388 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009388 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238700 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2203 LEXMATCH -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:238700 LEXMATCH -MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238710 LEXMATCH -MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15183 LEXMATCH -MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238710 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238970 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268540 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:415 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2830 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:238970 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009393 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009393 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:238970 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:415 LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:238970 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239000 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2801 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2831 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009394 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009394 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239000 LEXMATCH -MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2801 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3416 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2833 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disease LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009395 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009395 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239100 LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3416 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239200 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832615 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:417 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2838 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009397 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009397 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239200 LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:417 LEXMATCH -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 LEXMATCH -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18349 LEXMATCH -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome LEXMATCH -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239300 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058513 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239500 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:419 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2847 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009400 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009400 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239500 LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:419 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058512 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058514 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931835 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79101 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6710 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009401 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009401 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239510 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79101 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239710 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2211 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:287 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009402 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009402 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239710 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2211 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239800 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220742 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2213 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:897 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009404 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009404 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239800 LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2213 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239840 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2218 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1226 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009405 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009405 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239840 LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2218 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239850 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795905 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1517 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8585 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009406 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009406 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:239850 LEXMATCH -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1517 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240300 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085859 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3453 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8466 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune polyendocrinopathy type 1 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009411 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009411 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:240300 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3453 LEXMATCH -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 LEXMATCH -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15184 LEXMATCH -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:240500 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240600 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855861 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2089 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2513 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009414 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009414 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:240600 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2089 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293964 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17352 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009416 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009416 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:240900 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293964 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240950 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855859 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2410 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:298 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009417 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009417 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:240950 LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2410 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342286 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3464 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5592 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009419 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009419 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241080 LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3464 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241090 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2232 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16588 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009420 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009420 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241090 LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2232 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241200 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241200 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620220 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22483 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009424 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009424 LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620220 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1790 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2907 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009425 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009425 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241310 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1790 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241410 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855840 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2323 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:411 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009426 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009426 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241410 LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2323 LEXMATCH -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241520 LEXMATCH -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18416 LEXMATCH -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr LEXMATCH -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241520 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241530 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853271 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157215 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16977 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009431 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009431 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241530 LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157215 LEXMATCH -MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241550 LEXMATCH -MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241550 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15185 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241600 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241760 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2261 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2928 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009435 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009435 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241760 LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2261 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537901 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241850 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1226 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:414 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009437 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009437 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:241850 LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1226 LEXMATCH -MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242050 LEXMATCH -MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15186 LEXMATCH -MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242050 LEXMATCH -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 LEXMATCH -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15187 LEXMATCH -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242100 LEXMATCH -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 LEXMATCH -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15187 LEXMATCH -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242100 LEXMATCH -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242150 LEXMATCH -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2946 LEXMATCH -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:242150 LEXMATCH -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242150 LEXMATCH -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:242150 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100976 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bathing suit ichthyosis LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009441 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242300 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281122 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009441 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242300 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3170 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009441 LEXMATCH -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242300 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019163 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242500 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0239849 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6568 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009443 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009443 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242500 LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242510 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855788 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2269 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:292 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009444 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009444 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242510 LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2269 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242520 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275088 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2274 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1993 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009445 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009445 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242520 LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2274 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242530 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855787 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2278 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4641 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009446 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009446 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242530 LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2278 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268654 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:42062 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8424 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009448 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009448 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242600 LEXMATCH -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:42062 LEXMATCH -MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242670 LEXMATCH -MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2981 LEXMATCH -MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242670 LEXMATCH -MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242680 LEXMATCH -MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2982 LEXMATCH -MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242680 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242700 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83471 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7201 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:242700 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009451 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009451 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242700 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83471 LEXMATCH -MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:242700 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242840 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855772 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1493 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:448 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009452 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009452 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242840 LEXMATCH -MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1493 LEXMATCH -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242860 LEXMATCH -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15188 LEXMATCH -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242860 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048699 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242900 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877024 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1830 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4984 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009458 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009458 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:242900 LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1830 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88642 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12267 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009459 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009459 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243000 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88642 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 LEXMATCH -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243000 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403812 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137893 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12385 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009461 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009461 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243060 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137893 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243060 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028210 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2300 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3013 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009465 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009465 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2300 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436252 LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency-enteropathy spectrum LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009465 LEXMATCH -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243185 LEXMATCH -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243185 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243200 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033845 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238624 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4561 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009468 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009468 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243200 LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238624 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243300 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99960 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10028 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009469 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009469 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243300 LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99960 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15189 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:243310 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243310 LEXMATCH -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:243310 LEXMATCH -MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243320 LEXMATCH -MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15190 LEXMATCH -MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243320 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243440 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2306 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9675 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009473 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009473 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243440 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2306 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243500 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268575 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:465 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009475 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009475 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243500 LEXMATCH -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010626 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243600 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266172 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1201 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:140 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009476 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009476 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243600 LEXMATCH -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1201 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444069 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18654 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009477 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009477 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243605 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444069 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506307 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17945 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009477 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009477 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243605 LEXMATCH -MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506307 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217390 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2816 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009478 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009478 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243700 LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217390 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243800 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175692 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2315 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:80 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009479 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009479 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243800 LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2315 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243910 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855675 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2318 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9455 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:243910 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009480 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009480 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243910 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2318 LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:243910 LEXMATCH -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 LEXMATCH -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3073 LEXMATCH -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244200 LEXMATCH -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 LEXMATCH -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3073 LEXMATCH -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244200 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244300 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796005 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2328 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3078 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009483 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009483 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244300 LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2328 LEXMATCH -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244400 LEXMATCH -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:244400 LEXMATCH -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244400 LEXMATCH -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:244400 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244450 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855663 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2707 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3084 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009485 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009485 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244450 LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2707 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244460 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855648 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93324 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8367 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009486 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009486 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244460 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93324 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244850 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86923 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16767 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009489 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009489 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:244850 LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86923 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030360 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:678 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3100 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009490 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009490 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245000 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:678 LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855627 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2342 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:44 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009491 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009491 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245010 LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2342 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245050 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:832 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4774 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:245050 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009492 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009492 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245050 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:832 LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:245050 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-intellectual disability syndrome LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245100 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1399 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8423 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009493 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009493 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245100 LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1399 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245150 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855607 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85202 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8449 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009495 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009495 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245150 LEXMATCH -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85202 LEXMATCH -MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245190 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855605 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2347 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3124 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009498 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009498 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245190 LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2347 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023492 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245200 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:487 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6844 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009499 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009499 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245200 LEXMATCH -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:487 LEXMATCH -MONDO:0009500 kuru, susceptibility to skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245300 LEXMATCH -MONDO:0009500 kuru, susceptibility to skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15191 LEXMATCH -MONDO:0009500 kuru, susceptibility to skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245300 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245340 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855577 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171690 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17067 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009501 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009501 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245340 LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171690 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245348 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855565 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79244 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16712 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009502 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009502 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245348 LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79244 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255182 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17237 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009503 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009503 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245349 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255182 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245349 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245400 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:17 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3163 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile lactic acidosis with methylmalonic aciduria LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009504 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009504 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245400 LEXMATCH -MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:17 LEXMATCH -MONDO:0009506 specific granule deficiency skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169142 LEXMATCH -MONDO:0009506 specific granule deficiency skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10778 LEXMATCH -MONDO:0009506 specific granule deficiency skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009506 LEXMATCH -MONDO:0009506 specific granule deficiency skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009506 LEXMATCH -MONDO:0009506 specific granule deficiency skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169142 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245550 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855551 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1296 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3169 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009507 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009507 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245550 LEXMATCH -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1296 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052075 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282512 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98818 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6855 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009509 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009509 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245570 LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98818 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245600 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284139 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17308 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:245600 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009511 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009511 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245600 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284139 LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:245600 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245650 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855535 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2371 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3181 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009512 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009512 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245650 LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2371 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245660 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328355 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2407 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:368 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009513 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009513 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245660 LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2407 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056710 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023138 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2377 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12635 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009514 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009514 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245800 LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2377 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lcat deficiency LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245900 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79293 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4011 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial lcat deficiency LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009515 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009515 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245900 LEXMATCH -MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79293 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246000 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855523 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2310 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16593 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009516 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009516 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246000 LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2310 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246200 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265344 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6885 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009517 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009517 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246200 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 LEXMATCH -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 LEXMATCH -MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246300 LEXMATCH -MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15192 LEXMATCH -MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246300 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268601 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:20 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8387 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009520 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009520 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246450 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:20 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246500 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855504 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1816 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2044 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009522 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009522 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246500 LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1816 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246550 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855502 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2390 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3248 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009523 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009523 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246550 LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2390 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246555 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796001 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1891 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3523 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009524 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009524 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246555 LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1891 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1307 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3252 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009525 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009525 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246560 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1307 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15193 LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246560 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246650 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:535453 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10244 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009527 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009527 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246650 LEXMATCH -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:535453 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246700 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795956 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9683 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009528 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009528 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246700 LEXMATCH -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2394 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3263 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009529 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009529 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246900 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2394 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246900 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247100 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023795 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3268 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009530 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009530 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247100 LEXMATCH -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068361 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247200 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265219 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:531 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3669 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009532 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009532 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247200 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:531 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855477 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1563 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:237 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009533 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009533 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247410 LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1563 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062997 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247610 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264511 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79128 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16700 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009537 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009537 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247610 LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79128 LEXMATCH -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247640 LEXMATCH -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247640 LEXMATCH -MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247650 LEXMATCH -MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15194 LEXMATCH -MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247650 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247990 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796024 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2083 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:144 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009543 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009543 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:247990 LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2083 LEXMATCH -MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248000 LEXMATCH -MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248000 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248110 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855467 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2432 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:177 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009547 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009547 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248110 LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:closeMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2432 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248190 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2196 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3451 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009548 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009548 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248190 LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2196 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364055 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21565 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009549 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009549 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364055 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248200 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248200 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248200 LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248200 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248250 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31043 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2906 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009550 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009550 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248250 LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31043 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248300 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025221 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:87503 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:92 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de meleda LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009552 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009552 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248300 LEXMATCH -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:87503 LEXMATCH -MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248340 LEXMATCH -MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8531 LEXMATCH -MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248340 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248360 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342793 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:943 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3371 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248360 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009556 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009556 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248360 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:943 LEXMATCH -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248360 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248370 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90153 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3374 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009557 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009557 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248370 LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90153 LEXMATCH -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 LEXMATCH -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9125 LEXMATCH -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248390 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248450 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855425 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2717 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3395 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009560 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009560 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248450 LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2717 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024748 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:61 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6968 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009561 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009561 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248500 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:61 LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248500 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248510 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:118 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:869 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009562 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009562 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248510 LEXMATCH -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:118 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026817 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024776 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:511 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3228 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009563 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009563 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248600 LEXMATCH -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:511 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248700 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2461 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6973 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009564 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009564 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248700 LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2461 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248760 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855348 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2172 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3615 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009565 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009565 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248760 LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2172 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248770 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2463 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3388 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009566 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009566 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248770 LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2463 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248800 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024814 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:559 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8341 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248800 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marinesco-sjögren syndrome LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009567 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009567 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248800 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:559 LEXMATCH -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248800 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248900 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855346 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101001 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16939 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248900 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009568 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009568 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248900 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101001 LEXMATCH -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248900 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248910 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2135 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3409 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:248910 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009569 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009569 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248910 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2135 LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:248910 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248950 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796038 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2471 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3424 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009570 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009570 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:248950 LEXMATCH -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2471 LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249000 LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:249000 LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249000 LEXMATCH -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:249000 LEXMATCH -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249100 LEXMATCH -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:249100 LEXMATCH -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever LEXMATCH -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249100 LEXMATCH -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:249100 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249270 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49827 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9210 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:249270 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009575 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009575 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249270 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49827 LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:249270 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249310 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796086 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2479 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3448 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009577 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009577 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249310 LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2479 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249400 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2481 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7186 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009578 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009578 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249400 LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2481 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249420 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855305 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137834 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5138 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009579 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009579 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249420 LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137834 LEXMATCH -MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 LEXMATCH -MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22537 LEXMATCH -MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249500 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249599 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855303 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3044 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9811 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009581 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009581 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249599 LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3044 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249600 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265249 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2557 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3524 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009582 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009582 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249600 LEXMATCH -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2557 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249620 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796094 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2728 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3348 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009583 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009583 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249620 LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2728 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249630 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796080 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3079 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3485 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009584 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009584 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249630 LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3079 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249650 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796055 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1035 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:654 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-mercaptolactate cysteine disulfiduria LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009585 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009585 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249650 LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1035 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249700 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432230 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2632 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3553 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:249700 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009588 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009588 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249700 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2632 LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:249700 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249710 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2631 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3552 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009589 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009589 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249710 LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2631 LEXMATCH -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249900 LEXMATCH -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:249900 LEXMATCH -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249900 LEXMATCH -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:249900 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309263 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21329 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009591 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009591 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309263 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250100 LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250100 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855243 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1240 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3519 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009592 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009592 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250215 LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1240 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93317 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4993 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:250220 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009593 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009593 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250220 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93317 LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:250220 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250230 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855217 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166038 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17018 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009594 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009594 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250230 LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166038 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069596 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250250 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220748 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:175 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6996 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, mckusick type LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009595 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009595 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250250 LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:175 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432225 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2501 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3563 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009597 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009597 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250400 LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2501 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250410 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166035 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17017 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-short stature-retinitis pigmentosa syndrome LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009598 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009598 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250410 LEXMATCH -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166035 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250420 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855175 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2502 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3566 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009599 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009599 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250420 LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2502 LEXMATCH -MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250460 LEXMATCH -MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250460 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250620 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88639 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13202 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009603 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009603 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250620 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88639 LEXMATCH -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250700 LEXMATCH -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3909 LEXMATCH -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250700 LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15196 LEXMATCH -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250790 LEXMATCH -MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250800 LEXMATCH -MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15197 LEXMATCH -MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250800 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250850 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168598 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8397 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methionine adenosyltransferase i/iii deficiency LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009607 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009607 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250850 LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168598 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2170 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3577 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009609 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009609 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250940 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2170 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250940 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250950 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342727 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67046 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10321 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:250950 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009610 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009610 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250950 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67046 LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:250950 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250951 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855126 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67048 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10342 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009611 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009611 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250951 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:closeMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67048 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:27 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3586 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin b12-unresponsive methylmalonic acidemia LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009612 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009612 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:27 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251000 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251000 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251100 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79310 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5500 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009613 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009613 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251100 LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79310 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251110 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79311 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9479 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009614 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009614 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251110 LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79311 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251120 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308425 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17390 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009615 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009615 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251120 LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308425 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251190 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855089 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2643 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3602 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009616 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009616 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251190 LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2643 LEXMATCH -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251200 LEXMATCH -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15198 LEXMATCH -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251200 LEXMATCH -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251200 LEXMATCH -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251200 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251220 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855080 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2515 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3609 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009618 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009618 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251220 LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2515 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251230 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855079 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572768 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18011 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009619 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009619 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251230 LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572768 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251240 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3132 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:239 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009620 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009620 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251240 LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3132 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251250 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796066 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2522 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3610 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009621 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009621 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251250 LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2522 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251255 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796063 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313795 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17410 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009622 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009622 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251255 LEXMATCH -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313795 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067857 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251260 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398791 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3904 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009623 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009623 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251260 LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251270 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2518 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18481 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16603 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive chorioretinopathy-microcephaly syndrome LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009624 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009624 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251270 LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2518 LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1229 LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12426 LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital intrauterine infection-like syndrome LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009626 LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009626 LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1229 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795949 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2065 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:65 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009627 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009627 LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2065 LEXMATCH -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251450 LEXMATCH -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16451 LEXMATCH -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251450 LEXMATCH -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desbuquois syndrome LEXMATCH -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251450 LEXMATCH -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251450 LEXMATCH -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251505 LEXMATCH -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15200 LEXMATCH -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst LEXMATCH -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251505 LEXMATCH -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251600 LEXMATCH -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2542 LEXMATCH -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009631 LEXMATCH -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251600 LEXMATCH -MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251750 LEXMATCH -MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251750 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068494 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251850 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341306 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2290 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7039 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009635 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009635 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251850 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2290 LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251880 LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279934 LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13644 LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009636 LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009636 LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251880 LEXMATCH -MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279934 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027710 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162670 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206966 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20371 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009637 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009637 LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206966 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252100 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2751 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3701 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009642 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009642 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252100 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2751 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308386 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17386 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009643 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009643 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252150 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308386 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252150 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252150 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854989 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308393 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17387 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009644 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009644 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252160 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308393 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252160 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252160 LEXMATCH -MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252250 LEXMATCH -MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15203 LEXMATCH -MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252250 LEXMATCH -MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252270 LEXMATCH -MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18505 LEXMATCH -MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252270 LEXMATCH -MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252270 LEXMATCH -MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252270 LEXMATCH -MONDO:0009647 Morquio syndrome C skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252300 LEXMATCH -MONDO:0009647 Morquio syndrome C skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252300 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252320 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854961 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2400 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3791 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009648 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009648 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252320 LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2400 LEXMATCH -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 LEXMATCH -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 LEXMATCH -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disease LEXMATCH -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252350 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020725 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6749 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009650 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009650 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252500 LEXMATCH -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854896 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423470 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17705 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009652 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009652 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252605 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423470 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252605 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252650 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238286 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:578 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:94 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009653 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009653 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252650 LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:578 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086647 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79269 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7071 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009655 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009655 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252900 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79269 LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252900 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79270 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7072 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009656 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009656 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252920 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79270 LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252920 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086649 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79271 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7073 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009657 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009657 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252930 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79271 LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252930 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086650 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79272 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7074 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009658 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009658 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252940 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79272 LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252940 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309297 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3785 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009659 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009659 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309297 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253000 LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253000 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086652 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309310 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3786 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009660 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009660 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309310 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253010 LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253010 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056892 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026709 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7095 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253200 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009661 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009661 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253200 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583 LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253200 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056893 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253220 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085132 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:584 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7096 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253220 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009662 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009662 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253220 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:584 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253220 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253250 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524582 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2576 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:95 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009664 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009664 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253250 LEXMATCH -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2576 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071434 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253260 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79241 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:894 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253260 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009665 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009665 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253260 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79241 LEXMATCH -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253260 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253270 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268581 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79242 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2721 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009666 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009666 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253270 LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79242 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15204 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15204 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009667 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253280 LEXMATCH -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253280 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253290 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854678 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33108 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3834 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009668 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009668 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253290 LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33108 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253300 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83330 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7883 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 1 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009669 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009669 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253300 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83330 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253310 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854664 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1486 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3227 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009670 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009670 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253310 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1486 LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253320 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854663 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3068 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1358 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009671 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009671 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253320 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3068 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253400 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152109 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83419 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:198 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 3 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009672 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009672 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253400 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83419 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253550 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83418 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4945 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 2 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009673 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009673 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253550 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83418 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253600 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:267 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1057 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253600 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009675 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009675 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253600 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:267 LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253600 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253601 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8574 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:253601 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009676 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009676 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253601 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268 LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:253601 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253700 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410173 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2429 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009677 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009677 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253700 LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410174 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:272 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6475 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, fukuyama type LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009678 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009678 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253800 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:272 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15205 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253800 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15205 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009678 LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:253800 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254000 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931578 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1875 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:835 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009680 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009680 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254000 LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1875 LEXMATCH -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disease LEXMATCH -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254110 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270968 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1878 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3844 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:254110 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2h LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009683 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009683 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254110 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1878 LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:254110 LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:45448 LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9676 LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009685 LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009685 LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:45448 LEXMATCH -MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254190 LEXMATCH -MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254190 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028417 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254200 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026896 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7122 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009688 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009688 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254200 LEXMATCH -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589 LEXMATCH -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 LEXMATCH -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254210 LEXMATCH -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 LEXMATCH -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9689 LEXMATCH -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254210 LEXMATCH -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 LEXMATCH -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254300 LEXMATCH -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 LEXMATCH -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15206 LEXMATCH -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254300 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254400 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2584 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3863 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic mycosis fungoides LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009691 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009691 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254400 LEXMATCH -MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2584 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254450 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:824 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8618 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:254450 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009692 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009692 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254450 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:824 LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:254450 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028228 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:29073 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7108 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009693 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009693 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254500 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:29073 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314701 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009693 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254500 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85443 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009693 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254500 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254600 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398595 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2587 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3868 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:254600 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009694 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009694 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254600 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2587 LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:254600 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071082 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254770 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270853 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6808 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009696 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009696 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254770 LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:307 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054030 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254780 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751783 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:501 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8214 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:254780 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009697 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009697 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254780 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:501 LEXMATCH -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:254780 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054895 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751785 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3876 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:254800 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009698 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009698 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254800 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:254800 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163696 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17000 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009699 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009699 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254900 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163696 LEXMATCH -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy LEXMATCH -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 LEXMATCH -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255100 LEXMATCH -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 LEXMATCH -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255100 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255110 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833508 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228302 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17149 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009704 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009704 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255110 LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228302 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255120 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1829703 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1120 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009705 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009705 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255120 LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255125 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850718 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:43115 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16643 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009706 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009706 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255125 LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:43115 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255160 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15207 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:255160 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255160 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:255160 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636970 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009708 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009708 LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636970 LEXMATCH -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255200 LEXMATCH -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15208 LEXMATCH -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:255200 LEXMATCH -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255200 LEXMATCH -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:255200 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028655 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043461 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:614 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12301 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009710 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009710 LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:614 LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546264 LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2020 LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6161 LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009711 LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009711 LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2020 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850674 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98905 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10316 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009712 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009712 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255320 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98905 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:255320 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064584 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255600 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289380 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17325 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009714 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009714 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255600 LEXMATCH -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289380 LEXMATCH -MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255700 LEXMATCH -MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:844 LEXMATCH -MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255700 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255710 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930978 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3101 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4709 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009716 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009716 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255710 LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3101 LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:800 LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:250 LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009717 LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009717 LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:800 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255960 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850635 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:139 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009719 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009719 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255960 LEXMATCH -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301026 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850627 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2662 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:267 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301026 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009720 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009720 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301026 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2662 LEXMATCH -MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301026 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255990 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850626 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2663 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3929 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009721 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009721 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255990 LEXMATCH -MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2663 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255995 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850625 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168572 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8432 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:255995 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009722 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009722 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255995 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168572 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:255995 LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nam LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256000 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062950 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023264 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6877 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009723 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009723 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256000 LEXMATCH -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256020 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403548 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2613 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:321 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:256020 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009724 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009724 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256020 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2613 LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:256020 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15209 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15209 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15209 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15209 LEXMATCH -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256030 LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324977 LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13824 LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009726 LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009726 LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324977 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256050 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850554 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:56304 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8329 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym de la chapelle dysplasia LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009727 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009727 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256050 LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:56304 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256100 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855681 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93592 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18645 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009728 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009728 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256100 LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93592 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256120 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2668 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3940 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009729 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009729 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256120 LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2668 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256200 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850552 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2669 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3943 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009731 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009731 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256200 LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2669 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403399 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:839 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1500 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009732 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009732 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256300 LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:839 LEXMATCH -MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256370 LEXMATCH -MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15210 LEXMATCH -MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256370 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276575 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009734 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256450 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256450 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 LEXMATCH -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256450 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062909 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256500 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:634 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7182 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009735 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009735 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256500 LEXMATCH -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:634 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256520 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256520 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583607 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22336 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009736 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009736 LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583607 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256540 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268233 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:351 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3953 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009737 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009737 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256540 LEXMATCH -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:351 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:812 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009738 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256550 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:87876 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7183 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009738 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009738 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256150 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256550 LEXMATCH -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:87876 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796088 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2673 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3964 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009740 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009740 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256690 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2673 LEXMATCH -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256700 LEXMATCH -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 LEXMATCH -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15211 LEXMATCH -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009741 LEXMATCH -MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256700 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33445 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16630 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elejalde disease LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009742 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009742 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256710 LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33445 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168486 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ncl LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009744 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228329 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1219 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009744 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009744 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228329 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disease LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disease LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256730 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228360 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1223 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disease LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009745 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009745 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256731 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228360 LEXMATCH -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:256731 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256800 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020074 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3006 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009746 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009746 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256800 LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256810 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255229 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3972 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009747 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009747 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256810 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255229 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256840 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139578 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16959 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009748 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009748 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256840 LEXMATCH -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139578 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256850 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:643 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6500 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:256850 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009749 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009749 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256850 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:643 LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:256850 LEXMATCH -MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257100 LEXMATCH -MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6107 LEXMATCH -MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257100 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257200 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268242 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77292 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7206 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009756 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009756 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257200 LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77292 LEXMATCH -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257220 LEXMATCH -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:257220 LEXMATCH -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257220 LEXMATCH -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:257220 LEXMATCH -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257270 LEXMATCH -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15212 LEXMATCH -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257270 LEXMATCH -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257300 LEXMATCH -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:257300 LEXMATCH -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257300 LEXMATCH -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:257300 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257320 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89844 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16780 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009760 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009760 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257320 LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89844 LEXMATCH -MONDO:0009761 cystic hygroma skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocystic lymphatic malformation LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257550 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1125 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009764 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009764 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257550 LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1125 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257790 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931646 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2720 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4034 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009766 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009766 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257790 LEXMATCH -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2720 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257800 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2719 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:105 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009767 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009767 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257800 LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2719 LEXMATCH -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257850 LEXMATCH -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15213 LEXMATCH -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257850 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257910 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850338 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2714 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16606 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009769 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009769 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257910 LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2714 LEXMATCH -MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257920 LEXMATCH -MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4049 LEXMATCH -MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:257920 LEXMATCH -MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257920 LEXMATCH -MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:257920 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257960 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850332 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2718 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16607 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009771 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009771 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257960 LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2718 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257970 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850331 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2715 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4050 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009772 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009772 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257970 LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2715 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257980 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2721 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4054 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:257980 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009773 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009773 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:257980 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2721 LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:257980 LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067424 LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93929 LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4080 LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009774 LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009774 LEXMATCH -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93929 LEXMATCH -MONDO:0009775 Oguchi disease-1 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258100 LEXMATCH -MONDO:0009775 Oguchi disease-1 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258100 LEXMATCH -MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258150 LEXMATCH -MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15214 LEXMATCH -MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258150 LEXMATCH -MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258150 LEXMATCH -MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258150 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258200 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850320 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2920 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4069 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009777 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009777 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258200 LEXMATCH -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2920 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258315 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93329 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4076 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009779 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009779 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258315 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93329 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258320 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850317 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2736 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4079 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009780 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009780 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258320 LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2736 LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258450 LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15215 LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258450 LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpeo LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive progressive external ophthalmoplegia LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258450 LEXMATCH -MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258450 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258480 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2746 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4098 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258480 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009785 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009785 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258480 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2746 LEXMATCH -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258480 LEXMATCH -MONDO:0009786 optic atrophy 6 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258500 LEXMATCH -MONDO:0009786 optic atrophy 6 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10200 LEXMATCH -MONDO:0009786 optic atrophy 6 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258500 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258501 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574084 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67047 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5663 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258501 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009787 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009787 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258501 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67047 LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258501 LEXMATCH -MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258840 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850268 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2272 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2960 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009792 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009792 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258840 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2272 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2752 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10518 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009793 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009793 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258850 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2752 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258860 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406727 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2753 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:816 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009794 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009794 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258860 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2753 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258865 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796102 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141007 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10520 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258865 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009795 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009795 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258865 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141007 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258865 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258870 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018425 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:414 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6556 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009796 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009796 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258870 LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:414 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052621 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258900 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:30 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5429 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009797 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009797 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258900 LEXMATCH -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:30 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259050 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796121 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3042 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4488 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009798 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009798 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259050 LEXMATCH -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3042 LEXMATCH -MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259200 LEXMATCH -MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15217 LEXMATCH -MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259200 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259250 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850186 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2769 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4136 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009801 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009801 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259250 LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2769 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259410 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850184 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2772 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4139 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009803 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009803 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259410 LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2772 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268362 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8695 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009804 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009804 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259420 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216812 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259420 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216804 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10619 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009805 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10619 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009805 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10619 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009805 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259440 LEXMATCH -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 LEXMATCH -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disease LEXMATCH -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259450 LEXMATCH -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 LEXMATCH -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259450 LEXMATCH -MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259600 LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13743 LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259600 LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259600 LEXMATCH -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259600 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2776 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4299 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009810 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009810 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259610 LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2776 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259680 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410422 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324964 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6108 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259680 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009813 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009813 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259680 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324964 LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259680 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259690 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850140 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2324 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:354 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009814 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009814 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259690 LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2324 LEXMATCH -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259700 LEXMATCH -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2579 LEXMATCH -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259700 LEXMATCH -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259710 LEXMATCH -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4157 LEXMATCH -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259710 LEXMATCH -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259720 LEXMATCH -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4153 LEXMATCH -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259720 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2785 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4154 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259730 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009818 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009818 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259730 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2785 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259730 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052452 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432252 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2788 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4160 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009820 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009820 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259770 LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2788 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259775 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850106 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1832 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:282 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009821 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009821 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259775 LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1832 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259780 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850105 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2793 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4170 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009822 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009822 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259780 LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2793 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268164 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93598 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2835 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009823 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009823 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259900 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93598 LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259900 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260000 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93599 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2836 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009824 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009824 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260000 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93599 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260005 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268525 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33572 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5681 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009825 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009825 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260005 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33572 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260300 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850100 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171695 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9175 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009830 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009830 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260300 LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171695 LEXMATCH -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850096 LEXMATCH -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2805 LEXMATCH -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4203 LEXMATCH -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009832 LEXMATCH -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009832 LEXMATCH -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2805 LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067940 LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:811 LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4863 LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009833 LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009833 LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:811 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260470 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038522 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2806 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7708 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dawson encephalitis LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subacute sclerosing leukoencephalitis LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009835 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009835 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260470 LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2806 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251899 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009837 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260500 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205770 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2807 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4214 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009837 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009837 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260500 LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2807 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260530 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850079 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2812 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2598 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parana hard skin syndrome LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009838 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009838 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260530 LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2812 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240085 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17183 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009839 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009839 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260540 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240085 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260540 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260540 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850055 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2836 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4264 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009841 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009841 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260565 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2836 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome LEXMATCH -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260565 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260600 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280293 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4266 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009843 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009843 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260600 LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280293 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260660 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850040 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93333 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1555 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009845 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009845 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260660 LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93333 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064170 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268162 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2843 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:418 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009846 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009846 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260800 LEXMATCH -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2843 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056961 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260910 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:345 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1883 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009848 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009848 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260910 LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:345 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260920 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:343 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2788 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009849 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009849 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260920 LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:343 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070440 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261000 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1394891 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:332 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3024 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:261000 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009852 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009852 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261000 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:332 LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:261000 LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35858 LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7006 LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009853 LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009853 LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35858 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342870 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4539 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifunctional enzyme deficiency LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009855 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009855 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261515 LEXMATCH -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261540 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796012 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:709 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8422 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009856 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009856 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261540 LEXMATCH -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:709 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261550 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849930 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2856 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8435 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent müllerian duct syndrome LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009857 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009857 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261550 LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2856 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849929 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2871 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4305 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009858 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009858 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261560 LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2871 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261575 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849928 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2876 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4465 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009859 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009859 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261575 LEXMATCH -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2876 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031485 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:716 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7383 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009861 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009861 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261600 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:716 LEXMATCH -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:261600 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:226 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4319 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009862 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009862 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261630 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:226 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261630 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878676 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:13 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5682 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009863 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009863 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261640 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:13 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261640 LEXMATCH -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261650 LEXMATCH -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4279 LEXMATCH -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261650 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261670 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97234 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9964 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009865 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009865 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261670 LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97234 LEXMATCH -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261680 LEXMATCH -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4278 LEXMATCH -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency LEXMATCH -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261680 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261740 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439854 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10728 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009867 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009867 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261740 LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439854 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261750 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543514 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79240 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16711 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to liver and muscle phosphorylase kinase deficiency LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009868 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009868 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261750 LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79240 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261800 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:718 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4347 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated pierre robin syndrome LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009869 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009869 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261800 LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:718 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261900 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2889 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4361 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009870 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009870 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261900 LEXMATCH -MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2889 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261990 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849811 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2891 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4362 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009871 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009871 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261990 LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2891 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262000 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266006 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:123 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label björnstad syndrome LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009872 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009872 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262000 LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:123 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262020 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849805 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2892 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:277 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009873 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009873 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262020 LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2892 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262190 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:769 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:226 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009874 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009874 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262190 LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:769 LEXMATCH -MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262300 LEXMATCH -MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9650 LEXMATCH -MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262300 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231662 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7399 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009876 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009876 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262400 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231662 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ighd LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated gh deficiency LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262400 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262500 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6859 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009877 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009877 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262500 LEXMATCH -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15222 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15222 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262600 LEXMATCH -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:262600 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849779 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:629 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:408 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009879 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009879 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262650 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:629 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262650 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262700 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85442 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10604 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009880 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009880 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262700 LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85442 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262850 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:731 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital alpha2-antiplasmin deficiency LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009883 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009883 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262850 LEXMATCH -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262890 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796149 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:806 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4777 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009885 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009885 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:262890 LEXMATCH -MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:806 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263000 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238378 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98852 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18205 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16864 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009887 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009887 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263000 LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98852 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036047 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:731 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8378 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009889 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009889 LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:731 LEXMATCH -MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263210 LEXMATCH -MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15223 LEXMATCH -MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263210 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036057 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263300 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032463 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:729 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7422 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009891 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009891 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263300 LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:729 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263400 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238557 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17176 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:263400 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chuvash erythrocytosis LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009892 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009892 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263400 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238557 LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:263400 LEXMATCH -MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263450 LEXMATCH -MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18172 LEXMATCH -MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263450 LEXMATCH -MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263520 LEXMATCH -MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15224 LEXMATCH -MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:263520 LEXMATCH -MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263520 LEXMATCH -MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:263520 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263540 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849732 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2916 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16614 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009895 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009895 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263540 LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2916 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206583 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:108 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009897 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009897 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263570 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206583 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263570 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263630 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849719 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2934 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4428 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009900 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009900 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263630 LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2934 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263650 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849718 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1234 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10570 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4436 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009901 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009901 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263650 LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1234 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263700 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79277 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4446 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital erythropoietic porphyria LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009902 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009902 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263700 LEXMATCH -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79277 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263750 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265257 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:246 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8410 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009903 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009903 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263750 LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:246 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263800 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268450 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:358 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8547 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009904 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009904 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263800 LEXMATCH -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:358 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264010 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796189 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3409 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5426 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009905 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009905 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264010 LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3409 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1578 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2843 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterin-4 alpha-carbinolamine dehydratase deficiency LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009908 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009908 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1578 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264070 LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264070 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406586 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3455 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:330 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264090 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009910 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009910 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264090 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3455 LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264090 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264180 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432206 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85174 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9463 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264180 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009914 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009914 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264180 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85174 LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264180 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264270 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849696 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2975 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16617 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009915 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009915 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264270 LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2975 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:752 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5659 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009916 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009916 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264300 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:752 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171876 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4552 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pha1 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009917 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009917 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264350 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171876 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264350 LEXMATCH -MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264420 LEXMATCH -MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9633 LEXMATCH -MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264420 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849678 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2971 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4543 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264470 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009919 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009919 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264470 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2971 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264470 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264475 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849661 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2980 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4559 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009920 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009920 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264475 LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2980 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264480 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849649 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2166 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:344 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264480 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009921 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009921 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264480 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2166 LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264480 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000029 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264600 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:753 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5680 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009923 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009923 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264600 LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:753 LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289157 LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17319 LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009924 LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009924 LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289157 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264800 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:758 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9643 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009925 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009925 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264800 LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:758 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265000 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2990 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7111 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009926 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009926 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265000 LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2990 LEXMATCH -MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265050 LEXMATCH -MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18428 LEXMATCH -MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265050 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265100 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155912 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60025 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11894 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009928 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009928 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265100 LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60025 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265120 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217563 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17126 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009929 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009929 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265120 LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217563 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265150 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344975 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1208 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4600 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009931 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009931 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265150 LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1208 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849554 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2414 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9900 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:265300 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009933 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009933 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265300 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2414 LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:265300 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265380 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210122 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8644 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:265380 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009934 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009934 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265380 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210122 LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:265380 LEXMATCH -MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265400 LEXMATCH -MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265400 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265430 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2257 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16591 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary pulmonary hypoplasia LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009936 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009936 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265430 LEXMATCH -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2257 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037458 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034091 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31837 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10153 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009937 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009937 LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31837 LEXMATCH -MONDO:0009938 pulmonic stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265500 LEXMATCH -MONDO:0009938 pulmonic stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265500 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265800 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238402 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:763 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4611 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009940 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009940 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265800 LEXMATCH -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:763 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265880 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849523 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3003 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4610 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009942 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009942 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265880 LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3003 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265900 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3005 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4612 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:265900 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009943 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009943 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265900 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3005 LEXMATCH -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:265900 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849508 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3006 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9298 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009945 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009945 LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3006 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266120 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849507 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35120 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16635 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009946 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009946 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266120 LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35120 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289846 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17330 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009947 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009947 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266130 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289846 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266130 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034341 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3008 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7512 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009949 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009949 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3008 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266150 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266200 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340968 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:766 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7514 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:266200 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009950 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009950 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266200 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:766 LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:266200 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266255 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3270 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1810 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009952 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009952 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266255 LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3270 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266265 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398739 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99843 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4634 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009953 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009953 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266265 LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99843 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796133 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3019 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7523 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009954 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009954 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266270 LEXMATCH -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3019 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266280 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849453 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3021 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4637 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009955 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009955 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266280 LEXMATCH -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3021 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038275 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266500 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:773 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5691 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009958 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009958 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266500 LEXMATCH -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:773 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15226 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266510 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15226 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266510 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266510 LEXMATCH -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 LEXMATCH -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome LEXMATCH -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266900 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266910 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849438 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3404 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5394 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009963 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009963 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266910 LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3404 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266920 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140969 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15227 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8600 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009964 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009964 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266920 LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140969 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267000 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796113 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2849 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3936 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009965 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009965 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267000 LEXMATCH -MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2849 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673885 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3032 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4665 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009966 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009966 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267010 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3032 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267010 LEXMATCH -MONDO:0009967 renal tubular acidosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267200 LEXMATCH -MONDO:0009967 renal tubular acidosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15228 LEXMATCH -MONDO:0009967 renal tubular acidosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267200 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15229 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267300 LEXMATCH -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:267300 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267430 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97369 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16854 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009970 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009970 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267430 LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97369 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267450 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70587 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:112 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disease LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009971 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009971 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267450 LEXMATCH -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70587 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267500 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272167 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33355 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8625 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009973 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009973 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267500 LEXMATCH -MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33355 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267700 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:267700 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267700 LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:267700 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038804 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267730 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86900 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16765 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009975 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009975 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267730 LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86900 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267760 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931831 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1574 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:395 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009978 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009978 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267760 LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1574 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179840 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267800 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867332 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99002 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18239 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16891 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009979 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009979 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179840 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99002 LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 skos:narrowMatch oio:hasDbXref omim:267800 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3085 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4683 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009983 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009983 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268020 LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3085 LEXMATCH -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268025 LEXMATCH -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15230 LEXMATCH -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268025 LEXMATCH -MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268060 LEXMATCH -MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15231 LEXMATCH -MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268060 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268130 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327916 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3088 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4695 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009990 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009990 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268130 LEXMATCH -MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3088 LEXMATCH -MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268200 LEXMATCH -MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18251 LEXMATCH -MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268200 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268210 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065868 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206656 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99757 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4702 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009993 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009993 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268210 LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99757 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268220 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065867 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206655 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99756 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4701 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009994 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009994 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268220 LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99756 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268250 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849382 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3098 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4705 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009996 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009996 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268250 LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3098 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268305 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849348 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3102 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4718 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:268305 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009998 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009998 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268305 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3102 LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:268305 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849334 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1507 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16568 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0009999 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0009999 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268310 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1507 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268310 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268320 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849332 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1806 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2045 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010001 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010001 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268320 LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1806 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032339 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2909 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4392 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010002 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010002 LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2909 LEXMATCH -MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406704 LEXMATCH -MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1896 LEXMATCH -MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2076 LEXMATCH -MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010004 LEXMATCH -MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010004 LEXMATCH -MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1896 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268700 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268556 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3124 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:314 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:268700 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010005 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010005 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268700 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3124 LEXMATCH -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:268700 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:796 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2521 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010006 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010006 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268800 LEXMATCH -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:796 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268850 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2511 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3596 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010007 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010007 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268850 LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2511 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268563 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3129 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:158 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010008 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010008 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268900 LEXMATCH -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3129 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063540 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265227 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:798 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:117 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010010 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010010 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269150 LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:798 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269160 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269160 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:799 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:166 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010011 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010011 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269160 LEXMATCH -MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:799 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269200 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3143 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7611 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010012 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010012 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269200 LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3143 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432194 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3144 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:169 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010013 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010013 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269250 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3144 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269300 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85184 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16737 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010014 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010014 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269300 LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85184 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289499 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17327 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract microcornea with corneal opacity LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010015 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010015 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269400 LEXMATCH -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289499 LEXMATCH -MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269500 LEXMATCH -MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15233 LEXMATCH -MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269500 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269600 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036489 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158029 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8241 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocytosis LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010017 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010017 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269600 LEXMATCH -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158029 LEXMATCH -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269700 LEXMATCH -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10212 LEXMATCH -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269700 LEXMATCH -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269720 LEXMATCH -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15234 LEXMATCH -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269720 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:911 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:387 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010023 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010023 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269840 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:911 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269860 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432198 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93268 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4832 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:269860 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short rib-polydactyly syndrome, beemer-langer type LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010024 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010024 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269860 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93268 LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:269860 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269880 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878684 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3163 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7633 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010026 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010026 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269880 LEXMATCH -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3163 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067532 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309324 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:175 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010027 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010027 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269920 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309324 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269920 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269921 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3166 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4865 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010028 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010028 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:269921 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3166 LEXMATCH -MONDO:0010028 sialuria skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 LEXMATCH -MONDO:0010029 situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101063 LEXMATCH -MONDO:0010029 situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4883 LEXMATCH -MONDO:0010029 situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010029 LEXMATCH -MONDO:0010029 situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010029 LEXMATCH -MONDO:0010029 situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101063 LEXMATCH -MONDO:0010029 situs inversus skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs ambiguus LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270150 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289390 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10252 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:270150 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary sjögren syndrome LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010030 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010030 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270150 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289390 LEXMATCH -MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:270150 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037231 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:816 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7654 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sjögren-larsson syndrome LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010031 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010031 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270200 LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:816 LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263543 LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12862 LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010033 LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010033 LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263543 LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome 1 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270400 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175694 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:818 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5683 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010035 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010035 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270400 LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:818 LEXMATCH -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270420 LEXMATCH -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18260 LEXMATCH -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270420 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270450 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849157 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73273 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10609 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010038 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010038 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270450 LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73273 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270460 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796162 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1355 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4905 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010039 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010039 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270460 LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1355 LEXMATCH -MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270550 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849140 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4910 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010041 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010041 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270550 LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270685 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931276 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100998 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4219 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:270685 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010043 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010043 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270685 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100998 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:270685 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270700 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849128 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100996 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9581 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010044 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010044 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270700 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100996 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270750 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796019 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101003 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:336 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 23 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010046 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010046 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270750 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101003 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270800 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849115 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100986 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4926 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:270800 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010047 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010047 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270800 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100986 LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:270800 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270850 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849113 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2818 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4931 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010049 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010049 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270850 LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2818 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270950 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849112 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3011 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4932 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010051 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010051 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270950 LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3011 LEXMATCH -MONDO:0010052 spermatogenic failure 4 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270960 LEXMATCH -MONDO:0010052 spermatogenic failure 4 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15235 LEXMATCH -MONDO:0010052 spermatogenic failure 4 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270960 LEXMATCH -MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270970 LEXMATCH -MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15236 LEXMATCH -MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270970 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271150 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83420 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:564 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 4 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010056 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010056 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271150 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83420 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849096 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1186 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4062 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010060 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010060 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271245 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1186 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271245 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271250 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849094 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95433 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9971 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010061 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010061 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271250 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95433 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271270 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849088 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1185 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4958 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010062 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010062 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271270 LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1185 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271310 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849087 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3177 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1525 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010063 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010063 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271310 LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3177 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271320 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849085 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2572 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3795 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010064 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010064 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271320 LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2572 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271400 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101351 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16944 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010066 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010066 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271400 LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101351 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93357 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4970 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:271510 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sponastrime dysplasia LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010068 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010068 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271510 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93357 LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:271510 LEXMATCH -MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271530 LEXMATCH -MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:995 LEXMATCH -MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271530 LEXMATCH -MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 LEXMATCH -MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15237 LEXMATCH -MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271600 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849053 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163665 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16995 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010073 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010073 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271620 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163665 LEXMATCH -MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271630 LEXMATCH -MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4977 LEXMATCH -MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271630 LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271640 LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642099 LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010075 LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010075 LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271640 LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642099 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271650 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432213 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93351 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16819 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010076 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010076 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271650 LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93351 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849011 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93358 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10616 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:271665 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010077 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010077 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271665 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93358 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:271665 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796173 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1856 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4994 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010078 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010078 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271700 LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1856 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067608 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206307 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5984 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010079 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010079 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271900 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271900 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 LEXMATCH -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271900 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271930 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:225154 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17141 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010080 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010080 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271930 LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:225154 LEXMATCH -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 LEXMATCH -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271950 LEXMATCH -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 LEXMATCH -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18242 LEXMATCH -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271950 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271960 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795947 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3191 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:405 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010082 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010082 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271960 LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3191 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268631 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:22 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7695 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:271980 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010083 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010083 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:271980 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:22 LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:271980 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272100 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59298 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16661 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010085 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010085 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272100 LEXMATCH -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59298 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272150 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498602 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5058 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010087 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010087 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272150 LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498602 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272200 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268263 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5061 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:272200 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010088 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010088 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272200 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585 LEXMATCH -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:272200 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99731 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5062 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010089 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010089 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272300 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99731 LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:272300 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272350 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1802405 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3210 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:127 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010090 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010090 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272350 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3210 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1545 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1611 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010091 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010091 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272430 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1545 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:272430 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272430 LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:272430 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3255 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:62 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010092 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010092 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272440 LEXMATCH -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3255 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272460 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848934 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3275 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4974 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010094 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010094 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272460 LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3275 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272600 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848932 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1178 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16559 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010095 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010095 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272600 LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1178 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272750 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309246 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17406 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010099 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010099 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272750 LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309246 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043147 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:845 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7737 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disease LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010100 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010100 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272800 LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:845 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272950 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848912 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3291 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5125 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:272950 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010101 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010101 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:272950 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3291 LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:272950 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273050 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2972 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5027 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010104 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010104 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273050 LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2972 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1336708 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363504 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13047 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010108 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010108 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363504 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:876 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010108 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273300 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931218 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3301 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:386 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010110 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010110 LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3301 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273400 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2723 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2381 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010111 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010111 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273400 LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2723 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273730 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848864 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1861 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5180 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010115 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010115 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273730 LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1861 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273740 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848863 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1803 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10612 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010116 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010116 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273740 LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1803 LEXMATCH -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273750 LEXMATCH -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15239 LEXMATCH -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome LEXMATCH -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome LEXMATCH -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273750 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18288 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273900 LEXMATCH -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:273900 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071719 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274000 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175703 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3320 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5116 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:274000 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010121 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010121 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274000 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3320 LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:274000 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93583 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9430 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010122 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010122 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274150 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93583 LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:274150 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274190 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848818 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2951 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16615 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010123 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010123 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274190 LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2951 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274205 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848816 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2489 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16602 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010125 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010125 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274205 LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2489 LEXMATCH -MONDO:0010127 thymoma, familial skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274230 LEXMATCH -MONDO:0010127 thymoma, familial skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274230 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274240 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848813 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3327 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1646 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010128 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010128 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274240 LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3327 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274265 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848812 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3326 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5202 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010129 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010129 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274265 LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3326 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052622 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959620 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1675 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010130 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010130 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274270 LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1675 LEXMATCH -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274300 LEXMATCH -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274300 LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95716 LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16843 LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010132 LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010132 LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95716 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18189 LEXMATCH -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274500 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274600 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271829 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:705 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4271 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010134 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010134 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274600 LEXMATCH -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:705 LEXMATCH -MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274700 LEXMATCH -MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18190 LEXMATCH -MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274700 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18191 LEXMATCH -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274800 LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18192 LEXMATCH -MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274900 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90674 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10129 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010139 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010139 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275100 LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90674 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275120 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238670 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17179 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010140 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010140 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275120 LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238670 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275200 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90673 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16793 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010142 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010142 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275200 LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90673 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275220 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93322 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8707 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010144 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010144 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275220 LEXMATCH -MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93322 LEXMATCH -MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0276742 LEXMATCH -MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499 LEXMATCH -MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3109 LEXMATCH -MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010146 LEXMATCH -MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010146 LEXMATCH -MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044316 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275300 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040587 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3347 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3793 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mounier-kühn syndrome LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010148 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010148 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275300 LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3347 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275350 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:859 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12338 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin deficiency LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010149 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010149 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275350 LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:859 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275355 LEXMATCH -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275355 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275400 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848745 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3363 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5266 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275400 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010152 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010152 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275400 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3363 LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275400 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275450 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502453 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3355 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5267 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010153 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010153 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275450 LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3355 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275595 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848743 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3368 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5126 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010154 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010154 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275595 LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3368 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275630 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98907 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3979 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:275630 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disease with ichthyosis LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010155 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010155 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275630 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98907 LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:275630 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275900 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393559 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101000 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5372 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010156 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010156 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275900 LEXMATCH -MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101000 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252202 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:420 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17217 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276300 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010159 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010159 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276300 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252202 LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276300 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069463 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276600 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:28378 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3105 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276600 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 2 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010160 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010160 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276600 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:28378 LEXMATCH -MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276600 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069462 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276700 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268490 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:882 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2658 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276700 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 1 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010161 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010161 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276700 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:882 LEXMATCH -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276700 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069461 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276710 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268623 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69723 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10332 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276710 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 3 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010162 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010162 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276710 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69723 LEXMATCH -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276710 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2879 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9212 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010164 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010164 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276820 LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2879 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276821 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2249 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5398 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010165 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010165 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276821 LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2249 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268514 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210128 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8539 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010167 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010167 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276880 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210128 LEXMATCH -MONDO:0010168 Usher syndrome type 1 skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231169 LEXMATCH -MONDO:0010168 Usher syndrome type 1 skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5435 LEXMATCH -MONDO:0010168 Usher syndrome type 1 skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010168 LEXMATCH -MONDO:0010168 Usher syndrome type 1 skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010168 LEXMATCH -MONDO:0010168 Usher syndrome type 1 skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231169 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15241 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276901 LEXMATCH -MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276901 LEXMATCH -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 LEXMATCH -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15242 LEXMATCH -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276902 LEXMATCH -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 LEXMATCH -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276902 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5437 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276904 LEXMATCH -MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:276904 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3412 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:272 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010172 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010172 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276950 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3412 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247775 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4737 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome type 1 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010173 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010173 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277000 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247775 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277000 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745997 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2754 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4412 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi syndrome LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi-papp syndrome LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010176 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010176 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277170 LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2754 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277175 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3018 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4635 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010177 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010177 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277175 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3018 LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15243 LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:277180 LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277180 LEXMATCH -MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:277180 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277200 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848587 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4721 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010179 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010179 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277200 LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2311 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6798 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010180 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010180 LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2311 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277320 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1876 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5496 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010181 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010181 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277320 LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1876 LEXMATCH -MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277350 LEXMATCH -MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18302 LEXMATCH -MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277350 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277380 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79284 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3584 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria type cblf LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010183 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010183 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277380 LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79284 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277400 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79282 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12128 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cblc LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010184 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010184 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277400 LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79282 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:28 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010185 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308380 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010185 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308442 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010185 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:622 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010185 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79283 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3582 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cbld LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010185 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010185 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277410 LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79283 LEXMATCH -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 LEXMATCH -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18169 LEXMATCH -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemic vitamin d-resistant rickets LEXMATCH -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277440 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848534 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18195 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16856 LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277450 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047631 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277460 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8595 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010188 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010188 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277460 LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96 LEXMATCH -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277470 LEXMATCH -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15244 LEXMATCH -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 LEXMATCH -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277470 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264041 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166096 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17025 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010191 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010191 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277480 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166096 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277480 LEXMATCH -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277580 LEXMATCH -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15245 LEXMATCH -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome LEXMATCH -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 LEXMATCH -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waardenburg-shah syndrome LEXMATCH -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277580 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277590 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265210 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3447 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7878 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:277590 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010193 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010193 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277590 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3447 LEXMATCH -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:277590 LEXMATCH -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277600 LEXMATCH -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15246 LEXMATCH -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome LEXMATCH -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277600 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049429 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277700 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043119 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:902 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7885 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010196 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010196 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277700 LEXMATCH -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:902 LEXMATCH -MONDO:0010197 whistling face syndrome, recessive form skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277720 LEXMATCH -MONDO:0010197 whistling face syndrome, recessive form skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10024 LEXMATCH -MONDO:0010197 whistling face syndrome, recessive form skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277720 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277740 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2475 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10081 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010199 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010199 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277740 LEXMATCH -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2475 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019819 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277900 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019202 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:905 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7893 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:277900 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010200 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010200 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277900 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:905 LEXMATCH -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:277900 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277950 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371428 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7894 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:277950 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010201 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277950 LEXMATCH -MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:277950 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277990 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848439 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3080 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3530 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010203 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010203 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277990 LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3080 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275761 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12097 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010204 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010204 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278000 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275761 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disease LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278000 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesteryl ester storage disease LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278000 LEXMATCH -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 LEXMATCH -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15247 LEXMATCH -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278150 LEXMATCH -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 LEXMATCH -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15247 LEXMATCH -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278150 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406587 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2834 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:273 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010208 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010208 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278250 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2834 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278250 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278300 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93601 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5621 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010209 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010209 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278300 LEXMATCH -MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93601 LEXMATCH -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278700 LEXMATCH -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5624 LEXMATCH -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278700 LEXMATCH -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278720 LEXMATCH -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5626 LEXMATCH -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:278720 LEXMATCH -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278720 LEXMATCH -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:278720 LEXMATCH -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 LEXMATCH -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16452 LEXMATCH -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278730 LEXMATCH -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 LEXMATCH -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16452 LEXMATCH -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278730 LEXMATCH -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278740 LEXMATCH -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5627 LEXMATCH -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278740 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278750 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848410 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90342 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5630 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010214 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010214 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278750 LEXMATCH -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90342 LEXMATCH -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 LEXMATCH -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5628 LEXMATCH -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278760 LEXMATCH -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 LEXMATCH -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5628 LEXMATCH -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278760 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5629 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5629 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5629 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278780 LEXMATCH -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:278780 LEXMATCH -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278850 LEXMATCH -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15249 LEXMATCH -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:278850 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063689 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:279000 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340037 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3471 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:341 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010220 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010220 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:279000 LEXMATCH -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3471 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848392 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3474 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:310 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010221 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010221 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:280000 LEXMATCH -MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3474 LEXMATCH -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 LEXMATCH -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome LEXMATCH -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300000 LEXMATCH -MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300001 LEXMATCH -MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15250 LEXMATCH -MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300001 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2508 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4528 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300004 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010224 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010224 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300004 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2508 LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300004 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93622 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1804 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010225 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010225 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93622 LEXMATCH -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 LEXMATCH -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9159 LEXMATCH -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300018 LEXMATCH -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 LEXMATCH -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9159 LEXMATCH -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300018 LEXMATCH -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300029 LEXMATCH -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10381 LEXMATCH -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300029 LEXMATCH -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300030 LEXMATCH -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18095 LEXMATCH -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300030 LEXMATCH -MONDO:0010229 alopecia, congenital skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300042 LEXMATCH -MONDO:0010229 alopecia, congenital skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1470 LEXMATCH -MONDO:0010229 alopecia, congenital skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300042 LEXMATCH -MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 LEXMATCH -MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22666 LEXMATCH -MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300046 LEXMATCH -MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 LEXMATCH -MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22667 LEXMATCH -MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300047 LEXMATCH -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 LEXMATCH -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3017 LEXMATCH -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300048 LEXMATCH -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 LEXMATCH -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300048 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7371 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300049 LEXMATCH -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300049 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300055 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3077 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3506 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010235 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010235 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300055 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3077 LEXMATCH -MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 LEXMATCH -MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8557 LEXMATCH -MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300062 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300064 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931516 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2898 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2765 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010237 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010237 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300064 LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2898 LEXMATCH -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300066 LEXMATCH -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18096 LEXMATCH -MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300066 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848199 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2148 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6914 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010239 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010239 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300067 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2148 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300067 LEXMATCH -MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300071 LEXMATCH -MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15251 LEXMATCH -MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300071 LEXMATCH -MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300073 LEXMATCH -MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2293 LEXMATCH -MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300073 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300076 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848144 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2571 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:274 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010243 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010243 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300076 LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2571 LEXMATCH -MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300085 LEXMATCH -MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1871 LEXMATCH -MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1462 LEXMATCH -MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010245 LEXMATCH -MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300085 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848137 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101039 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10806 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010246 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010246 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101039 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300088 LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300088 LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139396 LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9412 LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010247 LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010247 LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139396 LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenomyeloneuropathy LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848097 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93349 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4979 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010248 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010248 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300106 LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93349 LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485350 LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010250 LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010250 LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300114 LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485350 LEXMATCH -MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 LEXMATCH -MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22668 LEXMATCH -MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300115 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300123 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300123 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67045 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010252 LEXMATCH -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300123 LEXMATCH -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 LEXMATCH -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22669 LEXMATCH -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300143 LEXMATCH -MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300147 LEXMATCH -MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15253 LEXMATCH -MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300147 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300148 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85282 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9178 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300148 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010258 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010258 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300148 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85282 LEXMATCH -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300148 LEXMATCH -MONDO:0010259 retinitis pigmentosa 24 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300155 LEXMATCH -MONDO:0010259 retinitis pigmentosa 24 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10389 LEXMATCH -MONDO:0010259 retinitis pigmentosa 24 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300155 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2712 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4628 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010261 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010261 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2712 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:568 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010261 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300166 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846242 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86818 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16761 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300194 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010263 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010263 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300194 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86818 LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300194 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300200 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342482 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95702 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:555 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked ahc LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010264 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010264 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300200 LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95702 LEXMATCH -MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 LEXMATCH -MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22670 LEXMATCH -MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300210 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:452 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12491 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300215 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010268 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010268 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300215 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:452 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300215 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015901 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300216 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:190 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6121 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010269 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010269 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300216 LEXMATCH -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:190 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300218 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846170 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85274 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9156 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010270 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010270 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300218 LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85274 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300219 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:456328 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17792 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010271 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010271 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300219 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:456328 LEXMATCH -MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300221 LEXMATCH -MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300221 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300232 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83629 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4891 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010275 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010275 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300232 LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83629 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300238 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85286 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4119 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shashi type LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010277 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010277 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300238 LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85286 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300243 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678194 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85278 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10572 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300243 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010278 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010278 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300243 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85278 LEXMATCH -MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300243 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846129 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88630 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16769 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300244 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010279 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010279 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300244 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88630 LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300244 LEXMATCH -MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300245 LEXMATCH -MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18163 LEXMATCH -MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300245 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300257 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878677 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34587 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9730 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300257 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease due to lamp-2 deficiency LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010281 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010281 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300257 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34587 LEXMATCH -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300257 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300260 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846058 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1762 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15254 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9781 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010283 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010283 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300260 LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1762 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300261 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846057 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85276 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16742 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300261 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010284 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010284 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300261 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85276 LEXMATCH -MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300261 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300262 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846056 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85273 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9157 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, abidi type LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010285 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010285 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300262 LEXMATCH -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85273 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300263 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846055 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85287 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9704 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300263 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, siderius type LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010286 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010286 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300263 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85287 LEXMATCH -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300263 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300266 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846046 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100997 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9585 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010287 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010287 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300266 LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100997 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846044 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:977 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:562 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010288 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010288 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300270 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:977 LEXMATCH -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 LEXMATCH -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22671 LEXMATCH -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300271 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846006 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98813 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9936 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010293 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010293 LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98813 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845987 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86788 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3981 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010294 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010294 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300299 LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86788 LEXMATCH -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69088 LEXMATCH -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16681 LEXMATCH -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010295 LEXMATCH -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010295 LEXMATCH -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69088 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300310 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10007 LEXMATCH -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300310 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057589 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300322 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:510 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7226 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300322 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010298 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010298 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300322 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:510 LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300322 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268117 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79233 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16710 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300323 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010299 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010299 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300323 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79233 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300323 LEXMATCH -MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 LEXMATCH -MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22672 LEXMATCH -MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300324 LEXMATCH -MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300352 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52503 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1608 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked creatine transporter deficiency LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010305 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010305 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300352 LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52503 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845861 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85293 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13244 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010306 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010306 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300354 LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85293 LEXMATCH -MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 LEXMATCH -MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22673 LEXMATCH -MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300355 LEXMATCH -MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300367 LEXMATCH -MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300367 LEXMATCH -MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 LEXMATCH -MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22674 LEXMATCH -MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300372 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300373 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432268 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2780 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4148 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300373 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopathia striata-cranial sclerosis syndrome LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010310 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010310 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300373 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2780 LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300373 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059117 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300376 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98895 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5900 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010311 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010311 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300376 LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98895 LEXMATCH -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 LEXMATCH -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5613 LEXMATCH -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300387 LEXMATCH -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 LEXMATCH -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300388 LEXMATCH -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 LEXMATCH -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15256 LEXMATCH -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300388 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300400 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5618 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010315 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010315 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300400 LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5614 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300419 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300419 LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300419 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93952 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16834 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, hedera type LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010319 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010319 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300423 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93952 LEXMATCH -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300423 LEXMATCH -MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300424 LEXMATCH -MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10391 LEXMATCH -MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300424 LEXMATCH -MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300424 LEXMATCH -MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300424 LEXMATCH -MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 LEXMATCH -MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22675 LEXMATCH -MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300428 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300431 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1193 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3537 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300431 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010323 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010323 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300431 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1193 LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300431 LEXMATCH -MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 LEXMATCH -MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22676 LEXMATCH -MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300433 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85288 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1133 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010325 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010325 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300434 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85288 LEXMATCH -MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 LEXMATCH -MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22677 LEXMATCH -MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300436 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391417 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10716 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010327 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010327 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391417 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85295 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hsd10 deficiency, atypical type LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym syndromic x-linked intellectual disability type 10 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010327 LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300438 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0585216 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231401 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17167 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010328 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010328 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300448 LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231401 LEXMATCH -MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 LEXMATCH -MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22678 LEXMATCH -MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300454 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300471 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845450 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85280 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16745 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010332 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010332 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300471 LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85280 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300472 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52055 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12486 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010333 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010333 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300472 LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52055 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369939 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17592 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010334 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010334 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300475 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369939 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300475 LEXMATCH -MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300476 LEXMATCH -MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10654 LEXMATCH -MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300476 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300484 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2755 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4060 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300484 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010336 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010336 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300484 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2755 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300484 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300486 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137831 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9947 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010337 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010337 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300486 LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137831 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300489 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845359 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139557 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16957 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010338 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010338 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300489 LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139557 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845343 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85294 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16748 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010339 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010339 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300491 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85294 LEXMATCH -MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 LEXMATCH -MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22679 LEXMATCH -MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300498 LEXMATCH -MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 LEXMATCH -MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22680 LEXMATCH -MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300505 LEXMATCH -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300510 LEXMATCH -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18040 LEXMATCH -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300510 LEXMATCH -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300510 LEXMATCH -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300510 LEXMATCH -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300514 LEXMATCH -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15257 LEXMATCH -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300514 LEXMATCH -MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 LEXMATCH -MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22681 LEXMATCH -MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300518 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300519 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85321 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16750 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness-intellectual disability syndrome, martin-probst type LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010353 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010353 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300519 LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85321 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795889 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5617 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010354 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010354 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300523 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59 LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300523 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300534 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845243 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85279 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16744 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300534 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010355 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010355 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300534 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85279 LEXMATCH -MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300534 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845202 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93606 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10306 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010356 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010356 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300539 LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93606 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1652 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010358 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93622 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15011 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010358 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300554 LEXMATCH -MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300554 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845167 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93623 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10645 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010359 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010359 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93623 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300555 LEXMATCH -MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300557 LEXMATCH -MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18604 LEXMATCH -MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300557 LEXMATCH -MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300558 LEXMATCH -MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22682 LEXMATCH -MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300558 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300559 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:715 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3858 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010362 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010362 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300559 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:715 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300578 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795873 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85332 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8360 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010364 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010364 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300578 LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85332 LEXMATCH -MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300580 LEXMATCH -MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15258 LEXMATCH -MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300580 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300582 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314795 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17434 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010367 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010367 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300582 LEXMATCH -MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314795 LEXMATCH -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300590 LEXMATCH -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15259 LEXMATCH -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300590 LEXMATCH -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300590 LEXMATCH -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300590 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300600 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268505 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178333 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10574 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label åland islands eye disease LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010371 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010371 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300600 LEXMATCH -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178333 LEXMATCH -MONDO:0010374 retinitis pigmentosa 34 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300605 LEXMATCH -MONDO:0010374 retinitis pigmentosa 34 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10390 LEXMATCH -MONDO:0010374 retinitis pigmentosa 34 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300605 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163985 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17010 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010375 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010375 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163985 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300607 LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300607 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139583 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12731 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300614 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked hsan with deafness LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked hereditary sensory and autonomic neuropathy with deafness LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010378 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010378 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300614 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139583 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300614 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300615 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796275 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3057 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3531 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010379 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010379 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300615 LEXMATCH -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3057 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300623 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839780 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93256 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16806 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010382 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010382 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300623 LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93256 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300624 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017324 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016667 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:908 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6464 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010383 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010383 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300624 LEXMATCH -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:908 LEXMATCH -MONDO:0010384 hypospadias 1, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300633 LEXMATCH -MONDO:0010384 hypospadias 1, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18185 LEXMATCH -MONDO:0010384 hypospadias 1, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300633 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300635 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538934 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10916 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010385 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010385 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300635 LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538934 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300636 LEXMATCH -MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300636 LEXMATCH -MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300643 LEXMATCH -MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18282 LEXMATCH -MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300643 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319623 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17465 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010389 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010389 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319623 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300650 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845069 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1000 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:592 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300650 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010390 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010390 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300650 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1000 LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300650 LEXMATCH -MONDO:0010391 angioma serpiginosum, X-linked skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300652 LEXMATCH -MONDO:0010391 angioma serpiginosum, X-linked skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10188 LEXMATCH -MONDO:0010391 angioma serpiginosum, X-linked skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300652 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:713 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7389 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010392 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010392 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300653 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:713 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970827 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3222 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4337 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010395 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010395 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300661 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3222 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300661 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300661 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18617 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18617 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18617 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505652 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12173 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010396 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010396 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300672 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505652 LEXMATCH -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300672 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209370 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17103 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010397 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010397 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300673 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209370 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300679 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261476 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17246 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010399 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010399 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300679 LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261476 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300695 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431272 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7608 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010400 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010400 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300695 LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431272 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678055 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178461 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17081 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010401 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010401 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300696 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178461 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300696 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300696 LEXMATCH -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300699 LEXMATCH -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300699 LEXMATCH -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300699 LEXMATCH -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300699 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300700 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:998 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:589 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010403 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010403 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300700 LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:998 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314978 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17439 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010404 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010404 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300703 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314978 LEXMATCH -MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300704 LEXMATCH -MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15260 LEXMATCH -MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300704 LEXMATCH -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 LEXMATCH -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22683 LEXMATCH -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300705 LEXMATCH -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309590 LEXMATCH -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:81 LEXMATCH -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:309590 LEXMATCH -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309590 LEXMATCH -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:309590 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678045 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140952 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10295 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010408 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010408 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300707 LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140952 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300709 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85324 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16751 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shrimpton type LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010409 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010409 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300709 LEXMATCH -MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85324 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300712 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163979 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17009 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010412 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010412 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300712 LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163979 LEXMATCH -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300716 LEXMATCH -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22684 LEXMATCH -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300716 LEXMATCH -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300716 LEXMATCH -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300716 LEXMATCH -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300717 LEXMATCH -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15261 LEXMATCH -MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300717 LEXMATCH -MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 LEXMATCH -MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15262 LEXMATCH -MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300718 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300749 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677903 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163937 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12669 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, najm type LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010417 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010417 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300749 LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163937 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300750 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677897 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171607 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17063 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010418 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010418 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300750 LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171607 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300752 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443197 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17755 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010420 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010420 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300752 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443197 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79278 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010420 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300755 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060360 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221026 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:47 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1033 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010421 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010421 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300755 LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:47 LEXMATCH -MONDO:0010423 hypospadias 2, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300758 LEXMATCH -MONDO:0010423 hypospadias 2, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18186 LEXMATCH -MONDO:0010423 hypospadias 2, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300758 LEXMATCH -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300770 LEXMATCH -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15263 LEXMATCH -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300770 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300778 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749050 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98955 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16877 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300778 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010425 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010425 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300778 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98955 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300778 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300779 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749049 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293621 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17339 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010426 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010426 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300779 LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293621 LEXMATCH -MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300799 LEXMATCH -MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15264 LEXMATCH -MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300799 LEXMATCH -MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300799 LEXMATCH -MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300799 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300801 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217377 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12766 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010428 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010428 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300801 LEXMATCH -MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217377 LEXMATCH -MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 LEXMATCH -MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22685 LEXMATCH -MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300802 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22686 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300803 LEXMATCH -MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 LEXMATCH -MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15265 LEXMATCH -MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300804 LEXMATCH -MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 LEXMATCH -MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300804 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042863 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300813 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039101 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3273 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7721 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010434 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010434 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300813 LEXMATCH -MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3273 LEXMATCH -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 LEXMATCH -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15266 LEXMATCH -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300815 LEXMATCH -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 LEXMATCH -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300815 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300816 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238329 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17171 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010437 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010437 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300816 LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238329 LEXMATCH -MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300818 LEXMATCH -MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300818 LEXMATCH -MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300818 LEXMATCH -MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300818 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251383 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17210 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300831 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010441 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010441 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300831 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251383 LEXMATCH -MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300831 LEXMATCH -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300833 LEXMATCH -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15267 LEXMATCH -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300833 LEXMATCH -MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300834 LEXMATCH -MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15268 LEXMATCH -MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300834 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363727 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17574 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300835 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010444 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010444 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300835 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363727 LEXMATCH -MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300835 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300843 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3159311 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90001 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16782 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disease LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010446 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010446 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300843 LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90001 LEXMATCH -MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300844 LEXMATCH -MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22687 LEXMATCH -MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300844 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300845 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280679 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17301 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010448 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010448 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300845 LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280679 LEXMATCH -MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 LEXMATCH -MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22688 LEXMATCH -MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300848 LEXMATCH -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 LEXMATCH -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22689 LEXMATCH -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300849 LEXMATCH -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 LEXMATCH -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22690 LEXMATCH -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300850 LEXMATCH -MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 LEXMATCH -MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22691 LEXMATCH -MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300851 LEXMATCH -MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300852 LEXMATCH -MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22692 LEXMATCH -MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300852 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300853 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317476 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10907 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010455 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010455 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300853 LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:closeMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317476 LEXMATCH -MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300854 LEXMATCH -MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18445 LEXMATCH -MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300854 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300855 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276432 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17281 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010457 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010457 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300855 LEXMATCH -MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276432 LEXMATCH -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300856 LEXMATCH -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18187 LEXMATCH -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300856 LEXMATCH -MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300857 LEXMATCH -MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15269 LEXMATCH -MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300857 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300858 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289483 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17326 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010460 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010460 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300858 LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289483 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300860 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163956 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17005 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, nascimento type LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010461 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010461 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300860 LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163956 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163966 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17007 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010463 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010463 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300863 LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163966 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300864 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163961 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17006 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked cerebral-cerebellar-coloboma syndrome LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010464 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010464 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300864 LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163961 LEXMATCH -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300867 LEXMATCH -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15270 LEXMATCH -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300867 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300868 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300496 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12777 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300868 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010466 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010466 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300868 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300496 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300868 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300869 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261483 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17247 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010467 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010467 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300869 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261483 LEXMATCH -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 LEXMATCH -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18321 LEXMATCH -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300870 LEXMATCH -MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300882 LEXMATCH -MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15271 LEXMATCH -MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300882 LEXMATCH -MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300882 LEXMATCH -MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300882 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300884 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324422 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12401 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300884 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010472 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010472 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300884 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324422 LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300884 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300886 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324410 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17485 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010473 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010473 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300886 LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324410 LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15272 LEXMATCH -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300887 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300888 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329235 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17499 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300888 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010475 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010475 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300888 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329235 LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300888 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300894 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329284 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12570 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010476 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010476 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300894 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329284 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300895 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293707 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17341 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300895 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010477 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010477 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300895 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293707 LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300895 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300896 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:356961 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12403 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300896 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010478 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010478 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300896 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:356961 LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300896 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300905 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352675 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12445 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010479 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010479 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300905 LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352675 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300908 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466026 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6520 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010480 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010480 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300908 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466026 LEXMATCH -MONDO:0010481 angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym angioneurotic edema LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300911 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363654 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17567 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010482 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010482 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300911 LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363654 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85277 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16743 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010483 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010483 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300912 LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85277 LEXMATCH -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300914 LEXMATCH -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18097 LEXMATCH -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300914 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431140 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17709 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010485 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010485 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300915 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431140 LEXMATCH -MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 LEXMATCH -MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15273 LEXMATCH -MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300918 LEXMATCH -MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 LEXMATCH -MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22693 LEXMATCH -MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300919 LEXMATCH -MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 LEXMATCH -MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22694 LEXMATCH -MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300928 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370927 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12405 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010490 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010490 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300934 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370927 LEXMATCH -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 LEXMATCH -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18433 LEXMATCH -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism LEXMATCH -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300942 LEXMATCH -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 LEXMATCH -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15274 LEXMATCH -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300943 LEXMATCH -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300946 LEXMATCH -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15275 LEXMATCH -MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300946 LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300952 LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15276 LEXMATCH -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300952 LEXMATCH -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 LEXMATCH -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15277 LEXMATCH -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300953 LEXMATCH -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300953 LEXMATCH -MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300953 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457240 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17800 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300957 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010496 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010496 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300957 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457240 LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300957 LEXMATCH -MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300958 LEXMATCH -MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300958 LEXMATCH -MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300958 LEXMATCH -MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300958 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401973 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17666 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010498 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010498 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300960 LEXMATCH -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401973 LEXMATCH -MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300963 LEXMATCH -MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15278 LEXMATCH -MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300963 LEXMATCH -MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300966 LEXMATCH -MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300966 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300967 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466791 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17832 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010501 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010501 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300967 LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466791 LEXMATCH -MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 LEXMATCH -MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300968 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300971 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300971 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300971 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300971 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570371 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22308 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010503 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010503 LEXMATCH -MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570371 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300977 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866985 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3041 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:257 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010505 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010505 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300977 LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3041 LEXMATCH -MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 LEXMATCH -MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22695 LEXMATCH -MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300978 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300979 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521258 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17955 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010507 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010507 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300979 LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521258 LEXMATCH -MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300983 LEXMATCH -MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22696 LEXMATCH -MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300983 LEXMATCH -MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300984 LEXMATCH -MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22697 LEXMATCH -MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300984 LEXMATCH -MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300985 LEXMATCH -MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15279 LEXMATCH -MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300985 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300988 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:504530 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17939 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010514 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010514 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300988 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:504530 LEXMATCH -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300990 LEXMATCH -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300990 LEXMATCH -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300990 LEXMATCH -MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300990 LEXMATCH -MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 LEXMATCH -MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15280 LEXMATCH -MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300991 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047992 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301000 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043194 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:906 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7895 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301000 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010518 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010518 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301000 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:906 LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301000 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301040 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845055 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:847 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5864 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010519 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010519 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301040 LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:847 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301050 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88917 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16774 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010520 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010520 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301050 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88917 LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 LEXMATCH -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9943 LEXMATCH -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301200 LEXMATCH -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 LEXMATCH -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301200 LEXMATCH -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 LEXMATCH -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9944 LEXMATCH -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301201 LEXMATCH -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 LEXMATCH -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301201 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85453 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16756 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010523 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010523 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301220 LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85453 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301310 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845028 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2802 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:668 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlsa-a LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked sideroblastic anemia and spinocerebellar ataxia LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010524 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010524 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301310 LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2802 LEXMATCH -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 LEXMATCH -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301410 LEXMATCH -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 LEXMATCH -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301410 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016016 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301500 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002986 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6400 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301500 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010526 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010526 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301500 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324 LEXMATCH -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301500 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844936 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85297 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9981 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010529 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010529 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301790 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85297 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1484 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1515 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010531 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010531 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301815 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1484 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844934 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1145 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8521 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301830 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010532 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010532 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301830 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1145 LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301830 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301835 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796028 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1187 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8756 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010533 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010533 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301835 LEXMATCH -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1187 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85292 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9980 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010534 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010534 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301840 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85292 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301845 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:113 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:838 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010535 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010535 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301845 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:113 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406355 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166113 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20069 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010535 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010535 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166113 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:127 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:936 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301900 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010537 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010537 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301900 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:127 LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301900 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301940 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931060 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2565 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4886 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010538 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010538 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301940 LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2565 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301950 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844918 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1131 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1002 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010539 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010539 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301950 LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1131 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302000 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795974 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1867 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1038 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010540 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010540 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302000 LEXMATCH -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1867 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302030 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391327 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1058 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010541 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010541 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302030 LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391327 LEXMATCH -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 LEXMATCH -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15287 LEXMATCH -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302045 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302060 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574083 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:111 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5890 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010543 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010543 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302060 LEXMATCH -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:111 LEXMATCH -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302200 LEXMATCH -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302200 LEXMATCH -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010544 LEXMATCH -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0010544 cataract 40 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010544 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302350 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796085 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:627 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7161 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:302350 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010545 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010545 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302350 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:627 LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:302350 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1175 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16558 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010547 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010547 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302500 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1175 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302500 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393808 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101075 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1258 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010549 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010549 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302800 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101075 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302800 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302801 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844873 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101076 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1243 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010550 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010550 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302801 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101076 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302802 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844865 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101077 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1244 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010551 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010551 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302802 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101077 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844862 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:921 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:360 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010554 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010554 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302905 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:921 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302950 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79345 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1296 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010555 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010555 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302950 LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79345 LEXMATCH -MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked dominant chondrodysplasia punctata LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008791 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303100 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008525 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6061 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010557 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010557 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303100 LEXMATCH -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303110 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844836 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1435 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:369 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010558 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010558 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303110 LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1435 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795953 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2466 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6986 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010559 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010559 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303350 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2466 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome LEXMATCH -MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303350 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303400 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324601 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1394 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010560 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010560 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303400 LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324601 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303600 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:192 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6123 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010561 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010561 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303600 LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:192 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303650 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1198 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1446 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010562 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010562 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303650 LEXMATCH -MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1198 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:16 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:917 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010563 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010563 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303700 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:16 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 LEXMATCH -MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:303700 LEXMATCH -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 LEXMATCH -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1872 LEXMATCH -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10652 LEXMATCH -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010566 LEXMATCH -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304020 LEXMATCH -MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304030 LEXMATCH -MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10119 LEXMATCH -MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304030 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054935 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175713 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5764 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010568 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010568 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304050 LEXMATCH -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839909 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1497 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12526 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010569 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010569 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304100 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1497 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304100 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304110 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220767 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1520 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1578 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010570 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010570 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304110 LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1520 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90652 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5802 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010571 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010571 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304120 LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90652 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304150 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:198 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4017 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010572 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010572 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304150 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:198 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796254 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1568 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8520 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010574 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010574 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304340 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1568 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85329 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16752 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010574 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010574 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304340 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85329 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85335 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010574 LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304340 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304350 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90646 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1691 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010575 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010575 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304350 LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90646 LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4504 LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304400 LEXMATCH -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304500 LEXMATCH -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18098 LEXMATCH -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304500 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304700 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796074 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52368 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8331 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010578 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010578 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304700 LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52368 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304730 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844671 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1661 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2580 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010579 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010579 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304730 LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1661 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304790 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37042 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1850 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010580 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010580 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304790 LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37042 LEXMATCH -MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 LEXMATCH -MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15289 LEXMATCH -MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304800 LEXMATCH -MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304950 LEXMATCH -MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15290 LEXMATCH -MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:304950 LEXMATCH -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 LEXMATCH -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2007 LEXMATCH -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305000 LEXMATCH -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 LEXMATCH -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305000 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:181 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10427 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010585 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010585 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305100 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:181 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305100 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268341 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75497 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8505 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010586 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010586 LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75497 LEXMATCH -MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305350 LEXMATCH -MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15291 LEXMATCH -MONDO:0010587 epidermodysplasia verruciformis, X-linked skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305350 LEXMATCH -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305390 LEXMATCH -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15292 LEXMATCH -MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305390 LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305400 LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:915 LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010589 LEXMATCH -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305400 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305450 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220769 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93932 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2317 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010590 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010590 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305450 LEXMATCH -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93932 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305550 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844560 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97232 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12720 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010591 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010591 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305550 LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97232 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016395 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2092 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6457 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:305600 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010592 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010592 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305600 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2092 LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:305600 LEXMATCH -MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305800 LEXMATCH -MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305800 LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306000 LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18386 LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306000 LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306000 LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306000 LEXMATCH -MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306400 LEXMATCH -MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15294 LEXMATCH -MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306400 LEXMATCH -MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306400 LEXMATCH -MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306400 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016080 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98878 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6591 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010602 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010602 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306700 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98878 LEXMATCH -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306700 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016077 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008533 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98879 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8732 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010604 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010604 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306900 LEXMATCH -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98879 LEXMATCH -MONDO:0010606 hernia, anterior diaphragmatic skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306950 LEXMATCH -MONDO:0010606 hernia, anterior diaphragmatic skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15295 LEXMATCH -MONDO:0010606 hernia, anterior diaphragmatic skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306950 LEXMATCH -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306955 LEXMATCH -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:306955 LEXMATCH -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306955 LEXMATCH -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:306955 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306990 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2570 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3788 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010610 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010610 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306990 LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2570 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2182 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:434 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010611 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010611 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307000 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2182 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307000 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307010 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844005 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1397 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1200 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010612 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010612 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307010 LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1397 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307030 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307030 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:308993 Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308993 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:308993 Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21311 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:308993 Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010613 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:308993 Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010613 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:308993 Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308993 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307030 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307150 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79495 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2863 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010614 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010614 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307150 LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79495 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231692 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3921 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010615 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010615 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307200 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231692 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307200 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307200 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307500 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2234 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4899 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010617 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010617 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307500 LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2234 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307700 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2239 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2914 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16589 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010618 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010618 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307700 LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2239 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89936 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12943 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010619 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010619 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307800 LEXMATCH -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89936 LEXMATCH -MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307830 LEXMATCH -MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15296 LEXMATCH -MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:307830 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265267 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6039 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308050 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010621 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010621 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308050 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139 LEXMATCH -MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308050 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281090 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010622 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308100 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:461 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7904 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010622 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010622 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308100 LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:461 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398689 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101088 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:73 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010626 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010626 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308230 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101088 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308230 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068348 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549463 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2442 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10915 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative disease LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010627 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010627 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2442 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308300 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021171 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6778 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308300 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010631 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010631 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308300 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464 LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308300 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15298 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15298 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile epileptic-dyskinetic encephalopathy LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308350 LEXMATCH -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308350 LEXMATCH -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 LEXMATCH -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3071 LEXMATCH -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308700 LEXMATCH -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 LEXMATCH -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3071 LEXMATCH -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308700 LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15299 LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans LEXMATCH -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308800 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308830 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2339 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3099 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010638 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010638 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308830 LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2339 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2375 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16597 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010639 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010639 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308850 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2375 LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis LEXMATCH -MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308905 LEXMATCH -MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15300 LEXMATCH -MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308905 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308940 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1018 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2432 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010641 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010641 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308940 LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1018 LEXMATCH -MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308950 LEXMATCH -MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308950 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1652 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010644 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308990 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93622 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15301 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010644 LEXMATCH -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308990 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051707 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309000 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028860 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:534 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3295 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:309000 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010645 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010645 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309000 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:534 LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:309000 LEXMATCH -MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309120 LEXMATCH -MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15302 LEXMATCH -MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309120 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309300 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91489 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12648 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010649 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010649 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309300 LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91489 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060908 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309350 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025237 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2484 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7011 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010650 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010650 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309350 LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2484 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027294 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022716 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1521 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:309400 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010651 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010651 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309400 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565 LEXMATCH -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:309400 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309480 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3052 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5238 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010652 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010652 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309480 LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3052 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309500 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3242 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9509 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010653 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010653 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309500 LEXMATCH -MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3242 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309510 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94083 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4235 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:309510 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010654 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010654 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309510 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94083 LEXMATCH -MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:309510 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:776 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3307 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:309520 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lujan-fryns syndrome LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010655 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010655 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309520 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:776 LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:309520 LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22699 LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309530 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309541 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369962 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13137 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010657 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010657 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309541 LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369962 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309545 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85290 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16747 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010658 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010658 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309545 LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85290 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100973 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2378 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010659 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010659 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309548 LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100973 LEXMATCH -MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 LEXMATCH -MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22700 LEXMATCH -MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309549 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795965 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3078 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5611 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010661 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010661 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309555 LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3078 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309560 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745996 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2824 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2344 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010662 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010662 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309560 LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2824 LEXMATCH -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309580 LEXMATCH -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3521 LEXMATCH -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309580 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309583 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796160 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3063 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5615 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, snyder type LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010664 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010664 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309583 LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3063 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309585 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3459 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5579 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010665 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010665 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309585 LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3459 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309610 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2958 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4482 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010667 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010667 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309610 LEXMATCH -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2958 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309620 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1436 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3520 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked skeletal dysplasia-intellectual disability syndrome LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010668 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010668 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309620 LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1436 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2498 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3559 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010669 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010669 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309630 LEXMATCH -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2498 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15304 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:309800 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309800 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:309800 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85275 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5066 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010671 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010671 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85275 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2556 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3659 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010672 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010672 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2556 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309900 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309900 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056889 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026705 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:580 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6675 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010674 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010674 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309900 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:580 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19016 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010674 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010674 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013801 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310200 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98896 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6291 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010679 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010679 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310200 LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98896 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310300 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751337 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98863 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2102 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010680 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010680 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310300 LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98863 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410203 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11925 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010683 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010683 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310400 LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310440 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839615 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:25980 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3892 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:310440 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010684 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010684 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310440 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:25980 LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:310440 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310465 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936859 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2608 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3902 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010686 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010686 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310465 LEXMATCH -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2608 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1652 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010687 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310468 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93622 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15305 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010687 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310468 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310490 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101078 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1240 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:310490 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010689 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010689 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310490 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101078 LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:310490 LEXMATCH -MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310500 LEXMATCH -MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15306 LEXMATCH -MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310500 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069760 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:649 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7224 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010691 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010691 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310600 LEXMATCH -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:649 LEXMATCH -MONDO:0010696 omphalocele, X-linked skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310980 LEXMATCH -MONDO:0010696 omphalocele, X-linked skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18587 LEXMATCH -MONDO:0010696 omphalocele, X-linked skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:310980 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311050 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839576 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98890 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10199 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010698 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010698 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311050 LEXMATCH -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98890 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311070 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99014 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:114 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010699 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010699 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311070 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99014 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311200 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1510460 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2750 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4121 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010702 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010702 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311200 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2750 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052450 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311250 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268542 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:664 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8391 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:311250 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010703 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010703 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311250 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:664 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:311250 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311300 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90650 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5121 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010704 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010704 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311300 LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90650 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642691 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile x-associated primary ovarian insufficiency LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010706 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010706 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311360 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642691 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:311360 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311360 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:311360 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796110 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2804 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:358 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010708 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010708 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311450 LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2804 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311510 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796195 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2379 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3203 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010709 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010709 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311510 LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2379 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311895 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931064 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2888 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1274 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010710 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010710 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311895 LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2888 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311900 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839463 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2886 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10089 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:311900 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010711 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010711 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:311900 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2886 LEXMATCH -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:311900 LEXMATCH -MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312000 LEXMATCH -MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6737 LEXMATCH -MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312000 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312060 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2966 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4513 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010713 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010713 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312060 LEXMATCH -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2966 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067610 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205711 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:702 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4265 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010714 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010714 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312080 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:702 LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312080 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312150 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79447 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4573 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010716 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010716 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312150 LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79447 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79243 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4620 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010717 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010717 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312170 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79243 LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312170 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312190 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3016 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4633 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010718 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010718 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312190 LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3016 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312300 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90797 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5692 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010720 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010720 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312300 LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90797 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312550 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1852 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4680 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010722 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010722 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312550 LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1852 LEXMATCH -MONDO:0010723 retinitis pigmentosa 2 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312600 LEXMATCH -MONDO:0010723 retinitis pigmentosa 2 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10380 LEXMATCH -MONDO:0010723 retinitis pigmentosa 2 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312600 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312700 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:792 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4690 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010725 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010725 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312700 LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:792 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039000 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:778 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5696 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010726 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010726 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312750 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:778 LEXMATCH -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312750 LEXMATCH -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312780 LEXMATCH -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312780 LEXMATCH -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312830 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839321 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3134 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:247 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010728 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010728 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312830 LEXMATCH -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3134 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312840 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839320 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85285 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9288 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010729 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010729 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312840 LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85285 LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:373 LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7649 LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010731 LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010731 LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:373 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931291 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2815 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5555 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010732 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010732 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312910 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2815 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312920 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839264 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99015 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4923 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010733 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010733 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312920 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99015 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068600 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313200 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:481 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6818 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010735 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010735 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313200 LEXMATCH -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:481 LEXMATCH -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313350 LEXMATCH -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15308 LEXMATCH -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313350 LEXMATCH -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313400 LEXMATCH -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4985 LEXMATCH -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313400 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313420 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796172 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168544 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8343 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010738 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010738 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313420 LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168544 LEXMATCH -MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313500 LEXMATCH -MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18246 LEXMATCH -MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313500 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313850 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0559483 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1335 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7359 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010742 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010742 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313850 LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1335 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:852 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5176 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010743 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010743 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:313900 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:852 LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:313900 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314050 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231393 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17166 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010745 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010745 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314050 LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231393 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314250 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839130 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53351 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10533 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010747 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010747 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314250 LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53351 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314300 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839129 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3341 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5230 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010748 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010748 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314300 LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3341 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314320 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3369 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:243 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:314320 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010749 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010749 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314320 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3369 LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:314320 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314360 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1122 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5400 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010750 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010750 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314360 LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1122 LEXMATCH -MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314390 LEXMATCH -MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15309 LEXMATCH -MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314390 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:555877 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1096 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010753 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010753 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314400 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:555877 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 LEXMATCH -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314400 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314500 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796192 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3417 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5453 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010754 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010754 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314500 LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3417 LEXMATCH -MONDO:0010756 Von Willebrand disease, X-linked form skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314560 LEXMATCH -MONDO:0010756 Von Willebrand disease, X-linked form skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314560 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3454 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7890 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010758 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010758 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3454 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85283 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9984 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010758 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010758 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314580 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85283 LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:314580 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069402 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314600 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265239 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3456 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5569 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010759 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010759 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:314600 LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3456 LEXMATCH -MONDO:0010761 retinitis pigmentosa Y-linked skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400004 LEXMATCH -MONDO:0010761 retinitis pigmentosa Y-linked skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15310 LEXMATCH -MONDO:0010761 retinitis pigmentosa Y-linked skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:400004 LEXMATCH -MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400021 LEXMATCH -MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:400021 LEXMATCH -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400042 LEXMATCH -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18503 LEXMATCH -MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:400042 LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936694 LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:242 LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5068 LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010765 LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010765 LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:242 LEXMATCH -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:415000 LEXMATCH -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18504 LEXMATCH -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:415000 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137675 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9511 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010771 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010771 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500000 LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137675 LEXMATCH -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500001 LEXMATCH -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15311 LEXMATCH -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500001 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500002 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839028 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2596 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3881 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:500002 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010773 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010773 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500002 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2596 LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:500002 LEXMATCH -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 LEXMATCH -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500003 LEXMATCH -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 LEXMATCH -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18315 LEXMATCH -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500003 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231183 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4684 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010775 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500004 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500004 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500008 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90641 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18160 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16792 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial neurosensory deafness LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mitochondrial non-syndromic neurosensory deafness LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010779 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010779 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500008 LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90641 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500009 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254864 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17227 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010780 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010780 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500009 LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254864 LEXMATCH -MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500011 LEXMATCH -MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15312 LEXMATCH -MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:500011 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520000 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342289 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:225 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4003 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010785 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010785 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:520000 LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:225 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520100 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838912 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1670 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16576 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010786 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010786 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:520100 LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1670 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048804 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:530000 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022541 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6817 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010787 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010787 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:530000 LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:535000 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917796 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:104 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6870 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010788 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010788 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:535000 LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:104 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053872 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:540000 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162671 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:550 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7009 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010789 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010789 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:540000 LEXMATCH -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:550 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:545000 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162672 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:551 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7144 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010790 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010790 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:545000 LEXMATCH -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:551 LEXMATCH -MONDO:0010791 myoglobinuria, recurrent skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:550500 LEXMATCH -MONDO:0010791 myoglobinuria, recurrent skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3879 LEXMATCH -MONDO:0010791 myoglobinuria, recurrent skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:550500 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551000 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838876 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254857 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17226 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010792 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010792 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:551000 LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254857 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062940 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551500 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328349 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:644 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:262 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010794 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010794 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:551500 LEXMATCH -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:644 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062941 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:557000 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:699 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7343 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010797 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010797 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:557000 LEXMATCH -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:699 LEXMATCH -MONDO:0010799 deafness, aminoglycoside-induced skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:580000 LEXMATCH -MONDO:0010799 deafness, aminoglycoside-induced skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18161 LEXMATCH -MONDO:0010799 deafness, aminoglycoside-induced skos:closeMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:580000 LEXMATCH -MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:598500 LEXMATCH -MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15313 LEXMATCH -MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:598500 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600000 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3180 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4972 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010801 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010801 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600000 LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3180 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600001 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2255 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:347 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010802 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010802 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600001 LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2255 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600002 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838779 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79106 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16698 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600002 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010803 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010803 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600002 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79106 LEXMATCH -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600002 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005689 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93930 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6398 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010805 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010805 LEXMATCH -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93930 LEXMATCH -MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600059 LEXMATCH -MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10388 LEXMATCH -MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600059 LEXMATCH -MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600059 LEXMATCH -MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600059 LEXMATCH -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600060 LEXMATCH -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22582 LEXMATCH -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600060 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072077 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600072 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206042 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6429 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010808 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010808 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600072 LEXMATCH -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466 LEXMATCH -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 LEXMATCH -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18415 LEXMATCH -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600081 LEXMATCH -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600081 LEXMATCH -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600081 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600092 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838654 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1422 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16565 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600092 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010814 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010814 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600092 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1422 LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600092 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600096 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931142 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3010 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:371 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010816 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010816 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600096 LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3010 LEXMATCH -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600101 LEXMATCH -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18099 LEXMATCH -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600101 LEXMATCH -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600105 LEXMATCH -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10376 LEXMATCH -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600105 LEXMATCH -MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600110 LEXMATCH -MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15314 LEXMATCH -MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600110 LEXMATCH -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600116 LEXMATCH -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9642 LEXMATCH -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600116 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600117 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838630 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1799 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1823 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010821 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010821 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600117 LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1799 LEXMATCH -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 LEXMATCH -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label micro syndrome LEXMATCH -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600118 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600121 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838612 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309803 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9682 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010823 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010823 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600121 LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309803 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600122 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2983 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4550 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010824 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010824 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600122 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2983 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600123 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838606 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1352 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2742 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600123 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010825 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010825 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600123 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1352 LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600123 LEXMATCH -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64280 LEXMATCH -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16667 LEXMATCH -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010826 LEXMATCH -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010826 LEXMATCH -MONDO:0010826 childhood absence epilepsy skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64280 LEXMATCH -MONDO:0010827 retinitis pigmentosa 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600132 LEXMATCH -MONDO:0010827 retinitis pigmentosa 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10385 LEXMATCH -MONDO:0010827 retinitis pigmentosa 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600132 LEXMATCH -MONDO:0010828 retinitis pigmentosa 11 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600138 LEXMATCH -MONDO:0010828 retinitis pigmentosa 11 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10383 LEXMATCH -MONDO:0010828 retinitis pigmentosa 11 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600138 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600142 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838577 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199354 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10424 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600142 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010829 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010829 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600142 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199354 LEXMATCH -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600142 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228354 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17152 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 disease LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010830 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010830 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228354 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600143 LEXMATCH -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600143 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:1768 Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1768 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:1768 Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:215 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:1768 Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010831 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:1768 Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010831 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:1768 Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1768 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600145 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600145 LEXMATCH -MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600151 LEXMATCH -MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:822 LEXMATCH -MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600151 LEXMATCH -MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600151 LEXMATCH -MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600151 LEXMATCH -MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600155 LEXMATCH -MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15315 LEXMATCH -MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600155 LEXMATCH -MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600156 LEXMATCH -MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15316 LEXMATCH -MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600156 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600159 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838562 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2988 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4568 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010835 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010835 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600159 LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2988 LEXMATCH -MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 LEXMATCH -MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18625 LEXMATCH -MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600165 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600175 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1216 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1474 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010839 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010839 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600175 LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1216 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600176 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838491 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2798 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:409 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010840 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010840 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600176 LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2798 LEXMATCH -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 LEXMATCH -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600193 LEXMATCH -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 LEXMATCH -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5522 LEXMATCH -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600193 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600195 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2451 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16600 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600195 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous venous malformations LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010842 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010842 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600195 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2451 LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600195 LEXMATCH -MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600204 LEXMATCH -MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9791 LEXMATCH -MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600204 LEXMATCH -MONDO:0010846 exostoses, multiple, type III skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600209 LEXMATCH -MONDO:0010846 exostoses, multiple, type III skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2206 LEXMATCH -MONDO:0010846 exostoses, multiple, type III skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600209 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600223 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752122 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98765 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9970 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010847 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010847 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600223 LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98765 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600224 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752123 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98766 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4953 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010848 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010848 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600224 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98766 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600231 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2337 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1862 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010849 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010849 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600231 LEXMATCH -MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2337 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141258 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16974 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010850 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010850 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600251 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141258 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600252 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796020 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2409 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3300 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010851 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010851 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600252 LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2409 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600268 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838329 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3339 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10366 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600268 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010854 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010854 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600268 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3339 LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600268 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600269 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838328 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2832 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:296 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010855 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010855 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600269 LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2832 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600273 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838327 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88924 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9481 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010856 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010856 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600273 LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88924 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100069 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10792 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010857 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010857 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100069 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600274 LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600274 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600302 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838281 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2429 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16598 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010858 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010858 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600302 LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2429 LEXMATCH -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600316 LEXMATCH -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22583 LEXMATCH -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600316 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600325 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795939 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221120 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4544 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010865 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010865 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600325 LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221120 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838258 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85179 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10082 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010866 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010866 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600329 LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85179 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838256 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2825 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4223 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010867 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010867 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600331 LEXMATCH -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2825 LEXMATCH -MONDO:0010868 rippling muscle disease 1 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600332 LEXMATCH -MONDO:0010868 rippling muscle disease 1 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9165 LEXMATCH -MONDO:0010868 rippling muscle disease 1 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600332 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600334 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:609 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13154 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010870 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010870 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600334 LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:609 LEXMATCH -MONDO:0010873 band heterotopia of brain skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600348 LEXMATCH -MONDO:0010873 band heterotopia of brain skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2250 LEXMATCH -MONDO:0010873 band heterotopia of brain skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600348 LEXMATCH -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 LEXMATCH -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600360 LEXMATCH -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600360 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600361 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64751 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9208 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010877 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010877 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600361 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64751 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600363 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838192 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100988 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4928 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010878 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010878 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600363 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100988 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600373 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838180 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1458 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1418 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010879 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010879 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600373 LEXMATCH -MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1458 LEXMATCH -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600376 LEXMATCH -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9901 LEXMATCH -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600376 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600383 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838162 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2496 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4302 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010881 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010881 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600383 LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2496 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600384 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838161 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1113 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:748 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010882 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010882 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600384 LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1113 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600399 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931302 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2835 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:374 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010883 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010883 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600399 LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2835 LEXMATCH -MONDO:0010884 muscular dystrophy, scapulohumeral skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600416 LEXMATCH -MONDO:0010884 muscular dystrophy, scapulohumeral skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15317 LEXMATCH -MONDO:0010884 muscular dystrophy, scapulohumeral skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600416 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600430 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931817 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1001 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10202 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010886 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010886 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600430 LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1001 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600457 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838123 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3387 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8438 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010887 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010887 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600457 LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3387 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600459 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838122 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1682 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16577 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010889 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010889 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600459 LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1682 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600460 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838121 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2008 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1167 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010890 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010890 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600460 LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2008 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600461 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838120 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1046 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2642 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010891 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010891 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600461 LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1046 LEXMATCH -MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600467 LEXMATCH -MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3366 LEXMATCH -MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600467 LEXMATCH -MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600496 LEXMATCH -MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10658 LEXMATCH -MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600496 LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101046 LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2257 LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010898 LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010898 LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101046 LEXMATCH -MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600513 LEXMATCH -MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15319 LEXMATCH -MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600513 LEXMATCH -MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5593 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600559 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833607 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2119 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2620 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010901 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010901 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600559 LEXMATCH -MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2119 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600561 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833603 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163662 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16994 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010902 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010902 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600561 LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163662 LEXMATCH -MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600624 LEXMATCH -MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10651 LEXMATCH -MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600624 LEXMATCH -MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600625 LEXMATCH -MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18303 LEXMATCH -MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600625 LEXMATCH -MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600625 LEXMATCH -MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600625 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931837 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2224 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2871 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010907 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010907 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600627 LEXMATCH -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2224 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600628 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406468 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3287 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010908 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010908 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600628 LEXMATCH -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168 LEXMATCH -MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600630 LEXMATCH -MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15320 LEXMATCH -MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600630 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036832 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033375 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2965 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4508 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010911 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010911 LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2965 LEXMATCH -MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 LEXMATCH -MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15321 LEXMATCH -MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600638 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600643 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162510 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53035 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6002 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010913 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010913 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600643 LEXMATCH -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53035 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600649 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228305 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17150 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010914 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010914 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600649 LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228305 LEXMATCH -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600652 LEXMATCH -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18100 LEXMATCH -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600652 LEXMATCH -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600666 LEXMATCH -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18598 LEXMATCH -MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600666 LEXMATCH -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600668 LEXMATCH -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6048 LEXMATCH -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600668 LEXMATCH -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600668 LEXMATCH -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600668 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83463 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:431 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010920 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010920 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600674 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83463 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93976 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label anotia LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010920 LEXMATCH -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600674 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600679 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833473 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141103 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16970 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010921 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010921 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600679 LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141103 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070579 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600705 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833454 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3130 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:160 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010922 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010922 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600705 LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3130 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600706 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521305 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17956 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010923 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010923 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600706 LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521305 LEXMATCH -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79315 LEXMATCH -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5661 LEXMATCH -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010924 LEXMATCH -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010924 LEXMATCH -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79315 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600736 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833380 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3424 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5469 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010925 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010925 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600736 LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3424 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833372 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101050 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2878 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010926 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010926 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600740 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101050 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600740 LEXMATCH -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 LEXMATCH -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600757 LEXMATCH -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 LEXMATCH -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600757 LEXMATCH -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 LEXMATCH -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600757 LEXMATCH -MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 LEXMATCH -MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35093 LEXMATCH -MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010929 LEXMATCH -MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600775 LEXMATCH -MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 LEXMATCH -MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600775 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600776 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833339 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1104 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:719 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010930 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010930 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600776 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1104 LEXMATCH -MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 LEXMATCH -MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18170 LEXMATCH -MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600785 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600790 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833321 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75373 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10123 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crapb LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010932 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010932 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600790 LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75373 LEXMATCH -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600791 LEXMATCH -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22584 LEXMATCH -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600791 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15322 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600795 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600795 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15322 LEXMATCH -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600795 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600802 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35078 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16632 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010938 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010938 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600802 LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35078 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068936 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600803 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609268 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69663 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16683 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010939 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010939 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600803 LEXMATCH -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69663 LEXMATCH -MONDO:0010945 retinitis pigmentosa 17 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600852 LEXMATCH -MONDO:0010945 retinitis pigmentosa 17 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10387 LEXMATCH -MONDO:0010945 retinitis pigmentosa 17 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600852 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600880 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856761 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:131 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5968 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010947 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010947 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600880 LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:131 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98985 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010948 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600881 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010948 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600882 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833219 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99936 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9192 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010949 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010949 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600882 LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99936 LEXMATCH -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600884 LEXMATCH -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15323 LEXMATCH -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600884 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600886 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833213 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2806 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010952 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010952 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600886 LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163 LEXMATCH -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600901 LEXMATCH -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15324 LEXMATCH -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600901 LEXMATCH -MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600903 LEXMATCH -MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15325 LEXMATCH -MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600903 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10432 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010958 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600919 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 LEXMATCH -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600919 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600920 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833136 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2460 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3382 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010959 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010959 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600920 LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2460 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600955 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71528 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16689 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010961 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010961 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600955 LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71528 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant diffuse palmoplantar keratoderma, norrbotten type LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530838 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5186 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600962 LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530838 LEXMATCH -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600965 LEXMATCH -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18101 LEXMATCH -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600965 LEXMATCH -MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600969 LEXMATCH -MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9792 LEXMATCH -MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600969 LEXMATCH -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600971 LEXMATCH -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22586 LEXMATCH -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600971 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600972 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93298 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:460 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1b LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010966 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010966 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600972 LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93298 LEXMATCH -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600974 LEXMATCH -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22587 LEXMATCH -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600974 LEXMATCH -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600975 LEXMATCH -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2490 LEXMATCH -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary congenital glaucoma LEXMATCH -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600975 LEXMATCH -MONDO:0010969 cone-rod dystrophy 5 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600977 LEXMATCH -MONDO:0010969 cone-rod dystrophy 5 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10655 LEXMATCH -MONDO:0010969 cone-rod dystrophy 5 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600977 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600991 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2180 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5518 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010972 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010972 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600991 LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2180 LEXMATCH -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600994 LEXMATCH -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18102 LEXMATCH -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600994 LEXMATCH -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600995 LEXMATCH -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15326 LEXMATCH -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600995 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601001 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89838 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16778 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010976 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010976 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601001 LEXMATCH -MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89838 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601003 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832918 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53347 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9158 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010977 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010977 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601003 LEXMATCH -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53347 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832916 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65283 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9294 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010979 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010979 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601005 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65283 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 LEXMATCH -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601005 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601027 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3328 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5210 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010981 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010981 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601027 LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3328 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832855 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53583 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16656 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal dystonic choreathetosis with episodic ataxia and spasticity LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010983 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010983 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601042 LEXMATCH -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53583 LEXMATCH -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 LEXMATCH -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5438 LEXMATCH -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601067 LEXMATCH -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 LEXMATCH -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601067 LEXMATCH -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601068 LEXMATCH -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18082 LEXMATCH -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601068 LEXMATCH -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601071 LEXMATCH -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22588 LEXMATCH -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601071 LEXMATCH -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601072 LEXMATCH -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22589 LEXMATCH -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601072 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601075 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1117 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:756 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010988 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010988 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601075 LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1117 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2578 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5513 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010989 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010989 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601076 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2578 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601076 LEXMATCH -MONDO:0010991 laterality defects, autosomal dominant skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601086 LEXMATCH -MONDO:0010991 laterality defects, autosomal dominant skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601086 LEXMATCH -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601088 LEXMATCH -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601088 LEXMATCH -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aymé-gripp syndrome LEXMATCH -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601088 LEXMATCH -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601088 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601095 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2115 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2601 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010993 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010993 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601095 LEXMATCH -MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2115 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601098 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270913 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101083 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1247 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601098 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010995 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010995 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601098 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101083 LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601098 LEXMATCH -MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601101 LEXMATCH -MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9902 LEXMATCH -MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601101 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240071 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17182 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010997 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010997 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601104 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240071 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601104 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601110 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832736 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79321 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9827 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010998 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010998 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601110 LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79321 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601127 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832735 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3304 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:893 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0010999 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0010999 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601127 LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3304 LEXMATCH -MONDO:0011001 Brugada syndrome 1 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601144 LEXMATCH -MONDO:0011001 Brugada syndrome 1 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601144 LEXMATCH -MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601152 LEXMATCH -MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18091 LEXMATCH -MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601152 LEXMATCH -MONDO:0011003 dilated cardiomyopathy 1E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601154 LEXMATCH -MONDO:0011003 dilated cardiomyopathy 1E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5644 LEXMATCH -MONDO:0011003 dilated cardiomyopathy 1E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601154 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601160 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86822 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16763 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011004 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011004 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601160 LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86822 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601162 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447753 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9583 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011006 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011006 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601162 LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447753 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601163 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2141 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2397 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011007 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011007 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601163 LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2141 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601165 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931750 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2001 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3430 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011008 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011008 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601165 LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2001 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832661 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2470 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:713 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011010 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011010 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601186 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2470 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98938 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011010 LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601186 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601187 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796046 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1858 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:350 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011011 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011011 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601187 LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1858 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601195 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139507 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8495 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011012 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011012 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601195 LEXMATCH -MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139507 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:112 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011013 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601198 LEXMATCH -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601198 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601200 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266144 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64742 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8757 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011014 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011014 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601200 LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64742 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601202 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15327 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601202 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 LEXMATCH -MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601202 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601214 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34217 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9795 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011017 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011017 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601214 LEXMATCH -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34217 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601216 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2899 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5478 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011018 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011018 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601216 LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2899 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601217 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1014 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16553 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011019 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011019 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601217 LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1014 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832592 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2786 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:404 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011020 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011020 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601220 LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2786 LEXMATCH -MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601223 LEXMATCH -MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601223 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832588 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52022 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9762 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601224 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal 11p deletion syndrome LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011022 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011022 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601224 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52022 LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601224 LEXMATCH -MONDO:0011023 hereditary mixed polyposis syndrome skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157794 LEXMATCH -MONDO:0011023 hereditary mixed polyposis syndrome skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16981 LEXMATCH -MONDO:0011023 hereditary mixed polyposis syndrome skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011023 LEXMATCH -MONDO:0011023 hereditary mixed polyposis syndrome skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011023 LEXMATCH -MONDO:0011023 hereditary mixed polyposis syndrome skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157794 LEXMATCH -MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601230 LEXMATCH -MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10075 LEXMATCH -MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601230 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601238 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832585 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94122 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16836 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011025 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011025 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601238 LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94122 LEXMATCH -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601277 LEXMATCH -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9733 LEXMATCH -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601277 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601287 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:219 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8573 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2f LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011028 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011028 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601287 LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:219 LEXMATCH -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601316 LEXMATCH -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18103 LEXMATCH -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601316 LEXMATCH -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601317 LEXMATCH -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18104 LEXMATCH -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601317 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832473 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1811 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4053 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011034 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011034 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601319 LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1811 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:638 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:372 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011035 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011035 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601321 LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:638 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601322 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832472 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2941 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4437 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011036 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011036 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601322 LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2941 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601338 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1171 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1188 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011038 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011038 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601338 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1171 LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601345 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832444 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69083 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10526 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011041 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011041 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601345 LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69083 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832440 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3434 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3693 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011045 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011045 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601349 LEXMATCH -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3434 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601350 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832439 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2867 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4838 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011046 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011046 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601350 LEXMATCH -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2867 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601351 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832438 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3218 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1688 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011047 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011047 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601351 LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3218 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601352 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1948 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:836 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011048 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011048 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601352 LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1948 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601353 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795941 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1272 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:958 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011049 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011049 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601353 LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1272 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601355 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2516 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2098 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011050 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011050 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601355 LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:closeMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2516 LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:closeMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601356 LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:closeMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:646136 LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:closeMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011051 LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:closeMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011051 LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:closeMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601356 LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:closeMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:646136 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1303073 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3051 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:270 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011053 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011053 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601358 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3051 LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601360 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832432 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1027 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16554 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601360 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011054 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011054 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601360 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1027 LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601360 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601362 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832431 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1580 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1323 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011055 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011055 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601362 LEXMATCH -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1580 LEXMATCH -MONDO:0011056 Wilms tumor 4 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601363 LEXMATCH -MONDO:0011056 Wilms tumor 4 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15328 LEXMATCH -MONDO:0011056 Wilms tumor 4 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601363 LEXMATCH -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601369 LEXMATCH -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18105 LEXMATCH -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601369 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601370 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832424 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2163 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2454 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011059 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011059 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601370 LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2163 LEXMATCH -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16801 LEXMATCH -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011060 LEXMATCH -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011060 LEXMATCH -MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91492 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601374 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832412 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1126 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4518 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011062 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011062 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601374 LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1126 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601375 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832411 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1808 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2682 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011063 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011063 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601375 LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1808 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601379 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832408 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97340 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2754 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine syndrome LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011065 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011065 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601379 LEXMATCH -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97340 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601382 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832399 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99955 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1253 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011066 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011066 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601382 LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99955 LEXMATCH -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601386 LEXMATCH -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22590 LEXMATCH -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601386 LEXMATCH -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601390 LEXMATCH -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrofacioarticular syndrome LEXMATCH -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601390 LEXMATCH -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832388 LEXMATCH -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71290 LEXMATCH -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10352 LEXMATCH -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011071 LEXMATCH -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011071 LEXMATCH -MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71290 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601410 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99886 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1839 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601410 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011073 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011073 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601410 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99886 LEXMATCH -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601410 LEXMATCH -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 LEXMATCH -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18106 LEXMATCH -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601412 LEXMATCH -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601412 LEXMATCH -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601412 LEXMATCH -MONDO:0011075 retinitis pigmentosa 18 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601414 LEXMATCH -MONDO:0011075 retinitis pigmentosa 18 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10392 LEXMATCH -MONDO:0011075 retinitis pigmentosa 18 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601414 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601419 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832370 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98909 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16870 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601419 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011076 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011076 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601419 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98909 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601419 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601427 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832362 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2321 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3062 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011078 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011078 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601427 LEXMATCH -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2321 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601438 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832359 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2831 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4703 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011079 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011079 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601438 LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2831 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601449 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832354 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3235 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5170 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011080 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011080 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601449 LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3235 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601450 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2412 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1428 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011081 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011081 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601450 LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2412 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601452 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832352 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398156 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4031 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011082 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011082 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601452 LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398156 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601453 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406724 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3351 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:265 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011083 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011083 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601453 LEXMATCH -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3351 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601455 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99950 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3973 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011085 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011085 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601455 LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99950 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601457 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832322 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331206 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10339 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to complete rag1/2 deficiency LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011086 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011086 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601457 LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331206 LEXMATCH -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 LEXMATCH -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601462 LEXMATCH -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 LEXMATCH -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15330 LEXMATCH -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601462 LEXMATCH -MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306527 LEXMATCH -MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8583 LEXMATCH -MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011090 LEXMATCH -MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011090 LEXMATCH -MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306527 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601472 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832274 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99938 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1251 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601472 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011091 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011091 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601472 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99938 LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601472 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601492 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291490 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67041 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16675 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyaluronidase deficiency LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011093 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011093 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601492 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67041 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15331 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601493 LEXMATCH -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601493 LEXMATCH -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 LEXMATCH -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15332 LEXMATCH -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601494 LEXMATCH -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 LEXMATCH -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601494 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832241 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33110 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9640 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011096 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011096 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33110 LEXMATCH -MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601499 LEXMATCH -MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10517 LEXMATCH -MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601499 LEXMATCH -MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601518 LEXMATCH -MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15334 LEXMATCH -MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601518 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosley-salih-alorainy syndrome LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832215 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69739 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8333 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011099 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011099 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601536 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69739 LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601536 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:44 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011101 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282527 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:772 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011101 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601539 LEXMATCH -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601543 LEXMATCH -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18107 LEXMATCH -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601543 LEXMATCH -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601543 LEXMATCH -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601543 LEXMATCH -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601544 LEXMATCH -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9933 LEXMATCH -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601544 LEXMATCH -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601544 LEXMATCH -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601544 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1377 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15335 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011104 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601547 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011104 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601547 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98985 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011104 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98989 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011104 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011104 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15335 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011104 LEXMATCH -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601547 LEXMATCH -MONDO:0011105 alacrima, congenital, autosomal recessive skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601549 LEXMATCH -MONDO:0011105 alacrima, congenital, autosomal recessive skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18166 LEXMATCH -MONDO:0011105 alacrima, congenital, autosomal recessive skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601549 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601552 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832167 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412022 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17688 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011106 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011106 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601552 LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412022 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601553 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832162 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1573 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3066 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis with juvenile macular degeneration LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011107 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011107 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601553 LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1573 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601560 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832112 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166016 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17013 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011109 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011109 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601560 LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166016 LEXMATCH -MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601583 LEXMATCH -MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15336 LEXMATCH -MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601583 LEXMATCH -MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601583 LEXMATCH -MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601583 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601596 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866636 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99949 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9201 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601596 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011113 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011113 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601596 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99949 LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601596 LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275122 LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:867 LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10867 LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011114 LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011114 LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:867 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601612 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1120 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3378 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011116 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011116 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601612 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1120 LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 LEXMATCH -MONDO:0011119 iridogoniodysgenesis skos:closeMatch Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16484 LEXMATCH -MONDO:0011119 iridogoniodysgenesis skos:closeMatch Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011119 LEXMATCH -MONDO:0011119 iridogoniodysgenesis skos:closeMatch Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011119 LEXMATCH -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 LEXMATCH -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601634 LEXMATCH -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 LEXMATCH -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601634 LEXMATCH -MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601650 LEXMATCH -MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10544 LEXMATCH -MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601650 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601668 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866507 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168451 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17030 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011124 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011124 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601668 LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168451 LEXMATCH -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 LEXMATCH -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5270 LEXMATCH -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601675 LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1147 LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16556 LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011128 LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011128 LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1147 LEXMATCH -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601701 LEXMATCH -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601701 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601705 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169095 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4358 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601705 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011132 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011132 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601705 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169095 LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601705 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601706 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866425 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3214 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5535 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011133 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011133 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601706 LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3214 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601707 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1553 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5584 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601707 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011134 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011134 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601707 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1553 LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601707 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601709 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866423 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220436 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8345 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011136 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011136 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601709 LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220436 LEXMATCH -MONDO:0011137 retinitis pigmentosa 19 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601718 LEXMATCH -MONDO:0011137 retinitis pigmentosa 19 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10398 LEXMATCH -MONDO:0011137 retinitis pigmentosa 19 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601718 LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2953 LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8486 LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musculocontractural eds LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011142 LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011142 LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2953 LEXMATCH -MONDO:0011143 cone-rod dystrophy 6 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601777 LEXMATCH -MONDO:0011143 cone-rod dystrophy 6 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10656 LEXMATCH -MONDO:0011143 cone-rod dystrophy 6 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601777 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228363 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1224 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln6 disease LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011144 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011144 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228363 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601780 LEXMATCH -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601780 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601794 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866256 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363741 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17575 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011145 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011145 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601794 LEXMATCH -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363741 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601803 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265449 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:884 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8421 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome 12p syndrome LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011146 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011146 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601803 LEXMATCH -MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:884 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601808 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1600 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10865 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011147 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011147 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601808 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1600 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262146 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20837 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011147 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011147 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262146 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601812 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866182 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363665 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4276 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011150 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011150 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601812 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363665 LEXMATCH -MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601813 LEXMATCH -MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15337 LEXMATCH -MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601813 LEXMATCH -MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601813 LEXMATCH -MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601813 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601815 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79351 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16718 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601815 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011152 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011152 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601815 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79351 LEXMATCH -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601815 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601820 LEXMATCH -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601820 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601829 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866168 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1787 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:499 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011154 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011154 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601829 LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1787 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79304 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1288 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011156 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011156 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601847 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79304 LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601847 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601853 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1532 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:229 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601853 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gómez-lópez-hernández syndrome LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011157 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011157 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601853 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1532 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601853 LEXMATCH -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601859 LEXMATCH -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome LEXMATCH -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome LEXMATCH -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601859 LEXMATCH -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601868 LEXMATCH -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18108 LEXMATCH -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601868 LEXMATCH -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601869 LEXMATCH -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22591 LEXMATCH -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601869 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601885 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601885 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601885 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601885 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98984 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011162 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011162 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011162 LEXMATCH -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601887 LEXMATCH -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3367 LEXMATCH -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601887 LEXMATCH -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601887 LEXMATCH -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601887 LEXMATCH -MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601888 LEXMATCH -MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3368 LEXMATCH -MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601888 LEXMATCH -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601894 LEXMATCH -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9914 LEXMATCH -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibronectin glomerulopathy LEXMATCH -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601894 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601927 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86915 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:284 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601927 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011166 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011166 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601927 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86915 LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601927 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601952 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281201 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17306 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011169 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011169 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601952 LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281201 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601954 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34514 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10471 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011170 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011170 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601954 LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34514 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601957 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865998 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69082 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16679 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011171 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011171 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601957 LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69082 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71493 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011173 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601977 LEXMATCH -MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601977 LEXMATCH -MONDO:0011175 Friedreich ataxia 2 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601992 LEXMATCH -MONDO:0011175 Friedreich ataxia 2 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15340 LEXMATCH -MONDO:0011175 Friedreich ataxia 2 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601992 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602014 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865974 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:30924 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13072 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011176 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011176 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602014 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:30924 LEXMATCH -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 LEXMATCH -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602032 LEXMATCH -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18062 LEXMATCH -MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602032 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602066 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865926 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31709 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8553 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011178 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011178 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602066 LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31709 LEXMATCH -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 LEXMATCH -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15341 LEXMATCH -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602078 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209908 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12889 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602081 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011184 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011184 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602081 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209908 LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602081 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602082 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98960 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9275 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011185 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011185 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602082 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98960 LEXMATCH -MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 LEXMATCH -MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10043 LEXMATCH -MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602083 LEXMATCH -MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 LEXMATCH -MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602083 LEXMATCH -MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602085 LEXMATCH -MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18173 LEXMATCH -MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602085 LEXMATCH -MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602086 LEXMATCH -MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602086 LEXMATCH -MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602087 LEXMATCH -MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602087 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602088 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93591 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18182 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16825 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011190 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011190 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602088 LEXMATCH -MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93591 LEXMATCH -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602092 LEXMATCH -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22592 LEXMATCH -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602092 LEXMATCH -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602092 LEXMATCH -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602092 LEXMATCH -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 LEXMATCH -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15342 LEXMATCH -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602093 LEXMATCH -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 LEXMATCH -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602093 LEXMATCH -MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602096 LEXMATCH -MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16507 LEXMATCH -MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602096 LEXMATCH -MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 LEXMATCH -MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5439 LEXMATCH -MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602097 LEXMATCH -MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 LEXMATCH -MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602097 LEXMATCH -MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602099 LEXMATCH -MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15343 LEXMATCH -MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602099 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602107 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865856 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84093 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16731 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011197 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011197 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602107 LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84093 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93356 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10618 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011198 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011198 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602111 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93356 LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602111 LEXMATCH -MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602114 LEXMATCH -MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15344 LEXMATCH -MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602114 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602152 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865794 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140976 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9681 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011202 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011202 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602152 LEXMATCH -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140976 LEXMATCH -MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602196 LEXMATCH -MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10090 LEXMATCH -MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602196 LEXMATCH -MONDO:0011207 xanthomatosis, susceptibility to skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602247 LEXMATCH -MONDO:0011207 xanthomatosis, susceptibility to skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18613 LEXMATCH -MONDO:0011207 xanthomatosis, susceptibility to skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602247 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064281 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602248 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:679 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6249 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011208 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011208 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602248 LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:679 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865695 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168549 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8720 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011211 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011211 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602271 LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168549 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602342 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:487825 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17885 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011213 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011213 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602342 LEXMATCH -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:487825 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602347 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865643 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79305 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1289 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011214 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011214 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602347 LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79305 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602361 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865639 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2763 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3396 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011215 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011215 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602361 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2763 LEXMATCH -MONDO:0011216 hemochromatosis type 2A skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602390 LEXMATCH -MONDO:0011216 hemochromatosis type 2A skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602390 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602398 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865596 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35107 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10283 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011217 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011217 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602398 LEXMATCH -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35107 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602400 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835851 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91132 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10116 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011218 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011218 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602400 LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91132 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602401 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406715 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99672 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16903 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011219 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011219 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602401 LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99672 LEXMATCH -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602404 LEXMATCH -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8578 LEXMATCH -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602404 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602433 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865409 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357043 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10502 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011223 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011223 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602433 LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357043 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069681 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602440 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865384 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65684 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9697 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011224 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011224 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602440 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65684 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602450 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9987 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabascan type LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan type LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011225 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011225 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602450 LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275 LEXMATCH -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 LEXMATCH -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18109 LEXMATCH -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602459 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602471 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865361 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397623 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17633 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011227 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011227 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602471 LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397623 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602473 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865349 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51188 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2198 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011229 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011229 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602473 LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51188 LEXMATCH -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602481 LEXMATCH -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10095 LEXMATCH -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602481 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9626 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602482 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91483 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9626 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rieger anomaly LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011233 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602482 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98978 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9626 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label axenfeld anomaly LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011233 LEXMATCH -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602482 LEXMATCH -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602483 LEXMATCH -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15346 LEXMATCH -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602483 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602484 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2840 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4269 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011235 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011235 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602484 LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2840 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602485 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79299 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2818 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011236 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011236 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602485 LEXMATCH -MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Congenital glucokinase-related hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79299 LEXMATCH -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602497 LEXMATCH -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 LEXMATCH -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15347 LEXMATCH -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangic chondrodysplasia punctata LEXMATCH -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602497 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602499 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468672 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17844 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011239 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011239 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602499 LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468672 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602501 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865285 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60040 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6950 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602501 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011240 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011240 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602501 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60040 LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602501 LEXMATCH -MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 LEXMATCH -MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602522 LEXMATCH -MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 LEXMATCH -MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15348 LEXMATCH -MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602522 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602531 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865267 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79094 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16697 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602531 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011243 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011243 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602531 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79094 LEXMATCH -MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602531 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602535 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:561 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6985 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602535 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011244 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011244 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602535 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:561 LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602535 LEXMATCH -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602540 LEXMATCH -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15349 LEXMATCH -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602540 LEXMATCH -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602540 LEXMATCH -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602540 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602541 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865233 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280671 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10317 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011246 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011246 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602541 LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280671 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602553 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1590 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16571 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011248 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011248 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602553 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1590 LEXMATCH -MONDO:0011249 torsion dystonia with onset in infancy skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602554 LEXMATCH -MONDO:0011249 torsion dystonia with onset in infancy skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9631 LEXMATCH -MONDO:0011249 torsion dystonia with onset in infancy skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602554 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602557 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865185 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93352 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4980 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602557 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011252 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011252 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602557 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93352 LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602557 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602558 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865184 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1524 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1583 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011253 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011253 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602558 LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1524 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602562 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865181 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357158 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17547 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011255 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011255 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602562 LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357158 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602579 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79319 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9830 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011257 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011257 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602579 LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79319 LEXMATCH -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602588 LEXMATCH -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602588 LEXMATCH -MONDO:0011259 retinitis pigmentosa 22 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602594 LEXMATCH -MONDO:0011259 retinitis pigmentosa 22 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10393 LEXMATCH -MONDO:0011259 retinitis pigmentosa 22 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602594 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602611 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163649 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16993 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011261 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011261 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602611 LEXMATCH -MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163649 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602612 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1323 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:216 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011262 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011262 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602612 LEXMATCH -MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1323 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602629 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1414216 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98806 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9630 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt6 type LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011264 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011264 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602629 LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98806 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602668 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:606 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9728 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011266 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011266 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602668 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:606 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15350 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602722 LEXMATCH -MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602722 LEXMATCH -MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602759 LEXMATCH -MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15351 LEXMATCH -MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602759 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602771 LEXMATCH -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602771 LEXMATCH -MONDO:0011272 retinitis pigmentosa 25 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602772 LEXMATCH -MONDO:0011272 retinitis pigmentosa 25 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10384 LEXMATCH -MONDO:0011272 retinitis pigmentosa 25 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602772 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158014 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011273 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602782 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168569 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10239 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011273 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011273 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602782 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168569 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602849 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864436 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53271 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7097 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011274 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011274 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602849 LEXMATCH -MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53271 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602875 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:40 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:507 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011275 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011275 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602875 LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:40 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602966 LEXMATCH -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602966 LEXMATCH -MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603010 LEXMATCH -MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22593 LEXMATCH -MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603010 LEXMATCH -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 LEXMATCH -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603034 LEXMATCH -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 LEXMATCH -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18210 LEXMATCH -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603034 LEXMATCH -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 LEXMATCH -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:298 LEXMATCH -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603041 LEXMATCH -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011283 LEXMATCH -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603041 LEXMATCH -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603041 LEXMATCH -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603098 LEXMATCH -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22594 LEXMATCH -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603098 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603116 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85199 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9506 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011287 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011287 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603116 LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85199 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603147 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930997 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79320 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9829 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603147 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011291 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011291 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603147 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79320 LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603147 LEXMATCH -MONDO:0011296 Meckel syndrome, type 2 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603194 LEXMATCH -MONDO:0011296 Meckel syndrome, type 2 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8743 LEXMATCH -MONDO:0011296 Meckel syndrome, type 2 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603194 LEXMATCH -MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603204 LEXMATCH -MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15352 LEXMATCH -MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603204 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603218 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864112 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157941 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16985 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011299 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011299 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603218 LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157941 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603233 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932715 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94089 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10680 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011301 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011301 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603233 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94089 LEXMATCH -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603278 LEXMATCH -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15353 LEXMATCH -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603278 LEXMATCH -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603278 LEXMATCH -MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603278 LEXMATCH -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603284 LEXMATCH -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18313 LEXMATCH -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603284 LEXMATCH -MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603285 LEXMATCH -MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18314 LEXMATCH -MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603285 LEXMATCH -MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603285 LEXMATCH -MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603285 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603358 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864002 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53693 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011308 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011308 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603358 LEXMATCH -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53693 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863959 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99819 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16913 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603373 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011309 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011309 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603373 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99819 LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603373 LEXMATCH -MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603386 LEXMATCH -MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15354 LEXMATCH -MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603386 LEXMATCH -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603387 LEXMATCH -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18077 LEXMATCH -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603387 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603438 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863881 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3268 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:394 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011320 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011320 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603438 LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3268 LEXMATCH -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 LEXMATCH -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1135 LEXMATCH -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011323 LEXMATCH -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603457 LEXMATCH -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 LEXMATCH -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603457 LEXMATCH -MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603467 LEXMATCH -MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15355 LEXMATCH -MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603467 LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrin deficiency LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type 2 LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type ii LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 2 LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii LEXMATCH -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603471 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863843 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2289 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3971 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603472 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011327 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011327 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603472 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2289 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603472 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603516 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1963674 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98761 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10474 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011330 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011330 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603516 LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98761 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603523 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340014 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264688 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10156 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011331 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011331 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603523 LEXMATCH -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264688 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603543 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69085 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10051 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603543 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011334 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011334 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603543 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69085 LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603543 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603546 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863732 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93360 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9866 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011335 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011335 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603546 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93360 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603552 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:540 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9929 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603552 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011336 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603552 LEXMATCH -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603552 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603553 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:540 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9922 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603553 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011337 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603553 LEXMATCH -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603553 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069097 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603554 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:39041 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8198 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603554 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011338 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011338 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603554 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:39041 LEXMATCH -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603554 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603563 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863704 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100989 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9591 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011339 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011339 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603563 LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100989 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603569 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141127 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12008 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011340 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011340 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603569 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141127 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603585 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970344 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238459 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12409 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011342 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011342 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603585 LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:closeMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238459 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603592 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863688 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93602 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5620 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011346 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011346 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603592 LEXMATCH -MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93602 LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2913 LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4410 LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011348 LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011348 LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2913 LEXMATCH -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603622 LEXMATCH -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9726 LEXMATCH -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603622 LEXMATCH -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603629 LEXMATCH -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22595 LEXMATCH -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603629 LEXMATCH -MONDO:0011355 cone-rod dystrophy 7 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603649 LEXMATCH -MONDO:0011355 cone-rod dystrophy 7 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15356 LEXMATCH -MONDO:0011355 cone-rod dystrophy 7 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603649 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603671 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1827 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5539 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acromelic frontonasal dysplasia LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011359 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011359 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603671 LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1827 LEXMATCH -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603678 LEXMATCH -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22596 LEXMATCH -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603678 LEXMATCH -MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603688 LEXMATCH -MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15357 LEXMATCH -MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603688 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603689 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863599 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178464 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12591 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011362 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011362 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603689 LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178464 LEXMATCH -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603720 LEXMATCH -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22597 LEXMATCH -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603720 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603736 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3047 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16618 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603736 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011365 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011365 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603736 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3047 LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603736 LEXMATCH -MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603737 LEXMATCH -MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer LEXMATCH -MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603737 LEXMATCH -MONDO:0011368 papillary thyroid Microcarcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603744 LEXMATCH -MONDO:0011368 papillary thyroid Microcarcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15358 LEXMATCH -MONDO:0011368 papillary thyroid Microcarcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603744 LEXMATCH -MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 LEXMATCH -MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603786 LEXMATCH -MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15359 LEXMATCH -MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:603786 LEXMATCH -MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603786 LEXMATCH -MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:603786 LEXMATCH -MONDO:0011372 microcephaly with simplified gyral pattern skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603802 LEXMATCH -MONDO:0011372 microcephaly with simplified gyral pattern skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15360 LEXMATCH -MONDO:0011372 microcephaly with simplified gyral pattern skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603802 LEXMATCH -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603813 LEXMATCH -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18614 LEXMATCH -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603813 LEXMATCH -MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603829 LEXMATCH -MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603829 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3286 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011377 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603830 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 LEXMATCH -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603830 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858990 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231226 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17164 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011381 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011381 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603902 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231226 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603902 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040641 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603903 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:232 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8614 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011382 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011382 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603903 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:232 LEXMATCH -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 LEXMATCH -MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603909 LEXMATCH -MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15361 LEXMATCH -MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603909 LEXMATCH -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 LEXMATCH -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18110 LEXMATCH -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603964 LEXMATCH -MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 LEXMATCH -MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15362 LEXMATCH -MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603965 LEXMATCH -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2478 LEXMATCH -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3445 LEXMATCH -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011391 LEXMATCH -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011391 LEXMATCH -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2478 LEXMATCH -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604060 LEXMATCH -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22598 LEXMATCH -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604060 LEXMATCH -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 LEXMATCH -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604091 LEXMATCH -MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604116 LEXMATCH -MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10653 LEXMATCH -MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604116 LEXMATCH -MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604116 LEXMATCH -MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604116 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79395 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16719 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604117 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011396 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011396 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604117 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79395 LEXMATCH -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604117 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604121 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314404 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12372 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011397 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011397 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604121 LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314404 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604129 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275114 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89843 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16779 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011398 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011398 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604129 LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89843 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043390 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604131 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:846 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:621 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011399 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011399 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604131 LEXMATCH -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:846 LEXMATCH -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604145 LEXMATCH -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15363 LEXMATCH -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604145 LEXMATCH -MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604154 LEXMATCH -MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7190 LEXMATCH -MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604154 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48431 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16645 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011402 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011402 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604168 LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48431 LEXMATCH -MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604169 LEXMATCH -MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604169 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604173 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221046 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4085 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604173 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011405 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011405 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604173 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221046 LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604173 LEXMATCH -MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604185 LEXMATCH -MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18436 LEXMATCH -MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604185 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604187 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858712 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100991 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9590 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011408 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011408 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604187 LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100991 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604213 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858695 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314597 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:86 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011411 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011411 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604213 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314597 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604218 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858680 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85110 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10037 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011412 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011412 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604218 LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85110 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1377 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15364 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011413 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604219 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011413 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604219 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011413 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011413 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059202 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:708 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7377 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604229 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011414 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011414 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604229 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:708 LEXMATCH -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604229 LEXMATCH -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 LEXMATCH -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9661 LEXMATCH -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604232 LEXMATCH -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 LEXMATCH -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604232 LEXMATCH -MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604233 LEXMATCH -MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18659 LEXMATCH -MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604233 LEXMATCH -MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604233 LEXMATCH -MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604233 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604250 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858664 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:225123 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10093 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011417 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011417 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604250 LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:225123 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604271 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314802 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17435 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011420 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011420 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604271 LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314802 LEXMATCH -MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604273 LEXMATCH -MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18660 LEXMATCH -MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604273 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604278 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970309 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93607 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16826 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011422 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011422 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604278 LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93607 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604286 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:119 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3851 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2e LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011423 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011423 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604286 LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:119 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604287 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858592 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139411 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10924 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011424 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011424 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604287 LEXMATCH -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139411 LEXMATCH -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 LEXMATCH -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15365 LEXMATCH -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604288 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604290 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48818 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9499 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011426 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011426 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604290 LEXMATCH -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48818 LEXMATCH -MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604292 LEXMATCH -MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604292 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604302 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604302 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604302 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059177 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:92 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18677 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile chronic arthritis LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011429 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011429 LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:92 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833118 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98984 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16884 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011430 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011430 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98984 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011430 LEXMATCH -MONDO:0011431 MASS syndrome skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858556 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604314 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293725 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17342 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis-intellectual disability syndrome, verloes type LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011432 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011432 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604314 LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293725 LEXMATCH -MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604317 LEXMATCH -MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15366 LEXMATCH -MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604317 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604320 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858517 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98920 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8592 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011436 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011436 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604320 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98920 LEXMATCH -MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604321 LEXMATCH -MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15367 LEXMATCH -MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604321 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604326 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858501 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98762 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10476 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011439 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011439 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604326 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98762 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604335 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064334 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034931 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99995 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16928 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011441 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011441 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604335 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99995 LEXMATCH -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604348 LEXMATCH -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15368 LEXMATCH -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604348 LEXMATCH -MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604356 LEXMATCH -MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9966 LEXMATCH -MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604356 LEXMATCH -MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604356 LEXMATCH -MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604356 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604360 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2822 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4919 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011445 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011445 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604360 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2822 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604367 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79083 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12600 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011448 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011448 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604367 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79083 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096903 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309334 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4754 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011449 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011449 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604369 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309334 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 LEXMATCH -MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604369 LEXMATCH -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 LEXMATCH -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12351 LEXMATCH -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604370 LEXMATCH -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 LEXMATCH -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604370 LEXMATCH -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604377 LEXMATCH -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18570 LEXMATCH -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604377 LEXMATCH -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604377 LEXMATCH -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604377 LEXMATCH -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 LEXMATCH -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8178 LEXMATCH -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604379 LEXMATCH -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 LEXMATCH -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8178 LEXMATCH -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604379 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604381 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858420 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228190 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17148 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011454 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011454 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604381 LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228190 LEXMATCH -MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 LEXMATCH -MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604387 LEXMATCH -MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 LEXMATCH -MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18179 LEXMATCH -MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604387 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9662 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:791 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011458 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604393 LEXMATCH -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604393 LEXMATCH -MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604400 LEXMATCH -MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604400 LEXMATCH -MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604401 LEXMATCH -MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604401 LEXMATCH -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604403 LEXMATCH -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18661 LEXMATCH -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604403 LEXMATCH -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604403 LEXMATCH -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604403 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604416 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858361 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69126 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9176 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011462 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011462 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604416 LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69126 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604431 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538096 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17976 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011463 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011463 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604431 LEXMATCH -MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538096 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604432 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858351 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98767 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10475 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011464 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011464 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604432 LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98767 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604454 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5552 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011466 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011466 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604454 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90117 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10131 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011468 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011468 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604484 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90117 LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604484 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604498 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327915 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3319 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:640 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011469 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011469 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604498 LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3319 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158668 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9705 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604536 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011472 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011472 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604536 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158668 LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604536 LEXMATCH -MONDO:0011473 Leber congenital amaurosis 5 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604537 LEXMATCH -MONDO:0011473 Leber congenital amaurosis 5 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9983 LEXMATCH -MONDO:0011473 Leber congenital amaurosis 5 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604537 LEXMATCH -MONDO:0011474 progressive familial heart block type IB skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604559 LEXMATCH -MONDO:0011474 progressive familial heart block type IB skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2610 LEXMATCH -MONDO:0011474 progressive familial heart block type IB skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604559 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858278 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99956 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9200 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604563 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011475 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011475 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604563 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99956 LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604563 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604571 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858266 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34592 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8427 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011476 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011476 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604571 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34592 LEXMATCH -MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604625 LEXMATCH -MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18247 LEXMATCH -MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604625 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604715 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443236 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13591 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011479 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011479 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604715 LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443236 LEXMATCH -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604717 LEXMATCH -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18111 LEXMATCH -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604717 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604757 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1541 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5538 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011481 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011481 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604757 LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1541 LEXMATCH -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604765 LEXMATCH -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15372 LEXMATCH -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604765 LEXMATCH -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604765 LEXMATCH -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604765 LEXMATCH -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 LEXMATCH -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 LEXMATCH -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604772 LEXMATCH -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604772 LEXMATCH -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604772 LEXMATCH -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604772 LEXMATCH -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604777 LEXMATCH -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9734 LEXMATCH -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604777 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604801 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858118 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98893 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12586 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011486 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011486 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604801 LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98893 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604802 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858114 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157946 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16986 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604802 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011487 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011487 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604802 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157946 LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604802 LEXMATCH -MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604804 LEXMATCH -MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15373 LEXMATCH -MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604804 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604805 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858106 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100993 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9586 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011489 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011489 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604805 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100993 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062952 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604809 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878555 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171700 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8526 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011490 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011490 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604809 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171700 LEXMATCH -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604827 LEXMATCH -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307 LEXMATCH -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011491 LEXMATCH -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604827 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604841 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858084 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90654 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5020 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011493 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011493 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604841 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90654 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604864 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93279 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16812 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011496 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011496 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604864 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93279 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604901 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858051 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168583 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17037 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011497 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011497 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604901 LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168583 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604919 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858042 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64755 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3856 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011500 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011500 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604919 LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64755 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604922 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858032 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166277 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10290 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011501 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011501 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604922 LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166277 LEXMATCH -MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604928 LEXMATCH -MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15374 LEXMATCH -MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604928 LEXMATCH -MONDO:0011503 cortisone reductase deficiency 1 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604931 LEXMATCH -MONDO:0011503 cortisone reductase deficiency 1 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15375 LEXMATCH -MONDO:0011503 cortisone reductase deficiency 1 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604931 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605013 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443162 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10216 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011504 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011504 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605013 LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443162 LEXMATCH -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605019 LEXMATCH -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15376 LEXMATCH -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605019 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605021 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352582 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17521 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605021 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011506 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011506 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605021 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352582 LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605021 LEXMATCH -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605027 LEXMATCH -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma LEXMATCH -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605027 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605039 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796232 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97297 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10140 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605039 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011510 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011510 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605039 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97297 LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605039 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605041 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857941 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79493 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10179 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011512 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011512 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605041 LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79493 LEXMATCH -MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605055 LEXMATCH -MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16508 LEXMATCH -MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605055 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049767 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605067 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243002 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1209 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5274 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011514 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011514 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605067 LEXMATCH -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1209 LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854631 LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88660 LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19093 LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011517 LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011517 LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88660 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605130 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319182 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5565 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605130 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011518 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011518 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605130 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319182 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605130 LEXMATCH -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605192 LEXMATCH -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:1708 LEXMATCH -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605192 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605229 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854568 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100995 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9589 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011522 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011522 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605229 LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100995 LEXMATCH -MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605231 LEXMATCH -MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10205 LEXMATCH -MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605231 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605233 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931071 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275523 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9797 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011524 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011524 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605233 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275523 LEXMATCH -MONDO:0011525 Carney complex type 2 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605244 LEXMATCH -MONDO:0011525 Carney complex type 2 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15377 LEXMATCH -MONDO:0011525 Carney complex type 2 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605244 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605253 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99951 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9203 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605253 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011527 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011527 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605253 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99951 LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605253 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101089 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10578 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011528 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011528 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605258 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101089 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605258 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605259 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854488 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98768 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9611 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011529 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011529 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605259 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98768 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605274 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854470 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85170 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10584 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011530 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011530 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605274 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85170 LEXMATCH -MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605275 LEXMATCH -MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10698 LEXMATCH -MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605275 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605280 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854467 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100994 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9616 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 13 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011532 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011532 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605280 LEXMATCH -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100994 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605282 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854466 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363417 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9679 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011533 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011533 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605282 LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363417 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605285 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854449 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99953 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10132 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011534 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011534 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605285 LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99953 LEXMATCH -MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605289 LEXMATCH -MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15378 LEXMATCH -MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605289 LEXMATCH -MONDO:0011536 optic atrophy 4 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605293 LEXMATCH -MONDO:0011536 optic atrophy 4 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15379 LEXMATCH -MONDO:0011536 optic atrophy 4 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605293 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854416 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210548 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17112 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011537 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011537 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605309 LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210548 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605355 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98902 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8334 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605355 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011539 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011539 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605355 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98902 LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605355 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605361 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854369 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98763 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9867 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011540 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011540 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605361 LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98763 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605362 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217622 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17128 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011541 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011541 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605362 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217622 LEXMATCH -MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605373 LEXMATCH -MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10545 LEXMATCH -MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605373 LEXMATCH -MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605375 LEXMATCH -MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15380 LEXMATCH -MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605375 LEXMATCH -MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605376 LEXMATCH -MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605376 LEXMATCH -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 LEXMATCH -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605387 LEXMATCH -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605387 LEXMATCH -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605387 LEXMATCH -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011547 LEXMATCH -MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605389 LEXMATCH -MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605389 LEXMATCH -MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605389 LEXMATCH -MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605389 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673535 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101150 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1902 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011551 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011551 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605407 LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101150 LEXMATCH -MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605428 LEXMATCH -MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22599 LEXMATCH -MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605428 LEXMATCH -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71289 LEXMATCH -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16687 LEXMATCH -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011555 LEXMATCH -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011555 LEXMATCH -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71289 LEXMATCH -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 LEXMATCH -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8497 LEXMATCH -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605472 LEXMATCH -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 LEXMATCH -MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605472 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605479 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99961 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10029 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011559 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011559 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605479 LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99961 LEXMATCH -MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605526 LEXMATCH -MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16509 LEXMATCH -MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605526 LEXMATCH -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605543 LEXMATCH -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18475 LEXMATCH -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605543 LEXMATCH -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605544 LEXMATCH -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2474 LEXMATCH -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605544 LEXMATCH -MONDO:0011564 cone-rod dystrophy 8 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605549 LEXMATCH -MONDO:0011564 cone-rod dystrophy 8 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15381 LEXMATCH -MONDO:0011564 cone-rod dystrophy 8 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605549 LEXMATCH -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605582 LEXMATCH -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15382 LEXMATCH -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605582 LEXMATCH -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605583 LEXMATCH -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18112 LEXMATCH -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605583 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605588 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854154 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98856 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8548 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011569 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011569 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605588 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98856 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605589 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854150 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101101 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1249 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605589 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011570 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011570 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605589 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101101 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605589 LEXMATCH -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605594 LEXMATCH -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15383 LEXMATCH -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605594 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605627 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854108 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66625 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3480 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011575 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011575 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605627 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66625 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605635 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854107 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2789 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011576 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011576 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605635 LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605637 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605637 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605642 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854104 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97290 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16853 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011578 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011578 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605642 LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97290 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605670 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854065 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67042 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4357 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011579 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011579 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605670 LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67042 LEXMATCH -MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605672 LEXMATCH -MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15384 LEXMATCH -MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605672 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605676 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854063 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65282 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5595 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011581 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011581 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605676 LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65282 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605711 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401869 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17661 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011582 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011582 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605711 LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401869 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605714 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605724 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319462 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17449 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605724 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited cancer-predisposing syndrome due to biallelic brca2 mutations LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011584 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011584 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605724 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319462 LEXMATCH -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605724 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139552 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10133 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal hereditary motor neuropathy, jerash type LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011585 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011585 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605726 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139552 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605726 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18232 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605728 LEXMATCH -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605738 LEXMATCH -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15385 LEXMATCH -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605738 LEXMATCH -MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605749 LEXMATCH -MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605749 LEXMATCH -MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98984 LEXMATCH -MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011591 LEXMATCH -MONDO:0011592 exudative vitreoretinopathy 3 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605750 LEXMATCH -MONDO:0011592 exudative vitreoretinopathy 3 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15386 LEXMATCH -MONDO:0011592 exudative vitreoretinopathy 3 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605750 LEXMATCH -MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 LEXMATCH -MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16504 LEXMATCH -MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605751 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605779 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853984 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79144 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9761 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital onychodysplasia LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011595 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011595 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605779 LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79144 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605808 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853959 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:179 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5926 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011599 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011599 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605808 LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:179 LEXMATCH -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 LEXMATCH -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605809 LEXMATCH -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 LEXMATCH -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15387 LEXMATCH -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605809 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853942 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247598 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10214 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605814 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011601 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011601 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605814 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247598 LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605814 LEXMATCH -MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605818 LEXMATCH -MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22600 LEXMATCH -MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605818 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:602 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9493 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011603 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011603 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605820 LEXMATCH -MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:602 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605822 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85194 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16740 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011604 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011604 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605822 LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85194 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605827 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853919 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168632 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17042 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011605 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011605 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605827 LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168632 LEXMATCH -MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605841 LEXMATCH -MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15388 LEXMATCH -MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605841 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853892 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:243343 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17185 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011610 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011610 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605850 LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:243343 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:407 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7219 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011612 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011612 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605899 LEXMATCH -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:407 LEXMATCH -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605909 LEXMATCH -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18605 LEXMATCH -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605909 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751532 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35701 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2712 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011614 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011614 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605911 LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35701 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605913 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853831 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391320 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17613 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011615 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011615 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605913 LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391320 LEXMATCH -MONDO:0011616 holoprosencephaly 6 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605934 LEXMATCH -MONDO:0011616 holoprosencephaly 6 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605934 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605946 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853825 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85188 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16738 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011620 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011620 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605946 LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85188 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605967 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853812 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85203 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8485 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:605967 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011621 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011621 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605967 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85203 LEXMATCH -MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:605967 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606003 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291329 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101028 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10445 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606003 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011624 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011624 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606003 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101028 LEXMATCH -MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606003 LEXMATCH -MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606012 LEXMATCH -MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18113 LEXMATCH -MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606012 LEXMATCH -MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606053 LEXMATCH -MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18512 LEXMATCH -MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606053 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606054 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268579 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:467 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606054 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011628 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011628 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606054 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35 LEXMATCH -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606054 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606056 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853736 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79330 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10767 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011629 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011629 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606056 LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79330 LEXMATCH -MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606068 LEXMATCH -MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10394 LEXMATCH -MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606068 LEXMATCH -MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606068 LEXMATCH -MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606068 LEXMATCH +MONDO:0007849 keratitis fugax hereditaria skos:closeMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c1835697 LEXMATCH +MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150550 LEXMATCH +MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome skos:closeMatch Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:150550 LEXMATCH +MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch Orphanet:34145 Immunoglobulin A nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berger disease LEXMATCH +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:658602 Transplant-related bronchiolitis obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos LEXMATCH +MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH +MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176400 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600987 LEXMATCH +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600987 LEXMATCH MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 LEXMATCH MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:647834 SLC40A1-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606069 LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:648562 LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011631 LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011631 LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606069 LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:648562 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011632 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606070 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18619 LEXMATCH -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606070 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606071 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99937 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1250 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011633 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011633 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606071 LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99937 LEXMATCH -MONDO:0011634 rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8283 LEXMATCH -MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606129 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606159 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853578 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157846 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10686 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011638 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011638 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606159 LEXMATCH -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157846 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15390 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606164 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606164 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606164 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606170 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853566 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85201 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10994 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606170 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011640 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011640 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606170 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85201 LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606170 LEXMATCH -MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606187 LEXMATCH -MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16510 LEXMATCH -MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606187 LEXMATCH -MONDO:0011648 radiation-induced meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606190 LEXMATCH -MONDO:0011648 radiation-induced meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8491 LEXMATCH -MONDO:0011648 radiation-induced meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606190 LEXMATCH -MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606217 LEXMATCH -MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606217 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48652 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10130 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011652 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011652 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48652 LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606232 LEXMATCH -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606240 LEXMATCH -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15391 LEXMATCH -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606240 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001882 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606243 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206657 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163699 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5654 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft tissue sarcoma LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011655 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011655 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606243 LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163699 LEXMATCH -MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606282 LEXMATCH -MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9166 LEXMATCH -MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606282 LEXMATCH -MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606324 LEXMATCH -MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18606 LEXMATCH -MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606324 LEXMATCH -MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606325 LEXMATCH -MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606325 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228012 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011660 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606346 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9167 LEXMATCH -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606346 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606353 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853396 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247604 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4485 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606353 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011663 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011663 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606353 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247604 LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606353 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169100 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17049 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011664 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011664 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606367 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169100 LEXMATCH -MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606392 LEXMATCH -MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10659 LEXMATCH -MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606392 LEXMATCH -MONDO:0011668 maturity-onset diabetes of the young type 6 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606394 LEXMATCH -MONDO:0011668 maturity-onset diabetes of the young type 6 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10660 LEXMATCH -MONDO:0011668 maturity-onset diabetes of the young type 6 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606394 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163690 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16998 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011669 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011669 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163690 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238517 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20634 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011669 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011669 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238517 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606407 LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606407 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848029 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:230839 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8507 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011670 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011670 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606408 LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:230839 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606438 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847987 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98934 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16874 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011671 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011671 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606438 LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98934 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606445 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847973 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300324 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17366 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011672 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011672 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606445 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300324 LEXMATCH -MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606451 LEXMATCH -MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18114 LEXMATCH -MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606451 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100044 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12438 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type b LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011674 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011674 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606482 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100044 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 LEXMATCH -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606482 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606483 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847896 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100043 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12437 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011675 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011675 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606483 LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100043 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068032 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606519 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:42775 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8338 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606519 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011676 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011676 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606519 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:42775 LEXMATCH -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606519 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15393 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606545 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15393 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606545 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15393 LEXMATCH -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606545 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606552 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847843 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79136 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16703 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011681 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011681 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606552 LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79136 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606554 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847839 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79135 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16702 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011682 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011682 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606554 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79135 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606574 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847836 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79435 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16722 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606574 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011683 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011683 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606574 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79435 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606574 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606593 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847827 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99812 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15000 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011686 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011686 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606593 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99812 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606595 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847823 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99940 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9194 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011687 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011687 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606595 LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99940 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370959 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011688 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370968 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011688 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370980 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011688 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606612 LEXMATCH -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606612 LEXMATCH -MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606640 LEXMATCH -MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10501 LEXMATCH -MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606640 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606658 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98769 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10477 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011694 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011694 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606658 LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98769 LEXMATCH -MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606660 LEXMATCH -MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15394 LEXMATCH -MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606660 LEXMATCH -MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606661 LEXMATCH -MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15395 LEXMATCH -MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606661 LEXMATCH -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 LEXMATCH -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606662 LEXMATCH -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 LEXMATCH -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15396 LEXMATCH -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606662 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606664 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847720 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289891 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10764 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011698 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011698 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606664 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289891 LEXMATCH -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 LEXMATCH -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15397 LEXMATCH -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606685 LEXMATCH -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606685 LEXMATCH -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606685 LEXMATCH -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 LEXMATCH -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606690 LEXMATCH -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606690 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306674 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9174 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011706 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011706 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306674 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606693 LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606693 LEXMATCH -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606705 LEXMATCH -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18115 LEXMATCH -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606705 LEXMATCH -MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606708 LEXMATCH -MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15398 LEXMATCH -MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606708 LEXMATCH -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606713 LEXMATCH -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7846 LEXMATCH -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606713 LEXMATCH -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606719 LEXMATCH -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18473 LEXMATCH -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome LEXMATCH -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606719 LEXMATCH -MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606721 LEXMATCH -MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18038 LEXMATCH -MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606721 LEXMATCH -MONDO:0011715 Seckel syndrome 2 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606744 LEXMATCH -MONDO:0011715 Seckel syndrome 2 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15399 LEXMATCH -MONDO:0011715 Seckel syndrome 2 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606744 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606762 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35878 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9931 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011717 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011717 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606762 LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35878 LEXMATCH -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606763 LEXMATCH -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15400 LEXMATCH -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606763 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051066 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238198 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:44890 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8598 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011719 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011719 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606764 LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:44890 LEXMATCH -MONDO:0011720 spermatogenic failure 3 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606766 LEXMATCH -MONDO:0011720 spermatogenic failure 3 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18399 LEXMATCH -MONDO:0011720 spermatogenic failure 3 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606766 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606768 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847532 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178400 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17080 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011721 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011721 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606768 LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178400 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606772 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847522 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397973 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17648 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011722 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011722 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606772 LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397973 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606773 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141148 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10084 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011723 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011723 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606773 LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141148 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847501 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71277 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9265 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011724 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011724 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606777 LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71277 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606785 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011387 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931132 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79235 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8683 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011725 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011725 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606785 LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79235 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606812 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:24 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6476 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606812 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011730 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011730 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606812 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:24 LEXMATCH -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606812 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066388 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35710 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6521 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011731 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011731 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606824 LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35710 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606835 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847406 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85169 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16735 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011732 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011732 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606835 LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85169 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101090 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10579 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011735 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011735 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606843 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101090 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606843 LEXMATCH -MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606852 LEXMATCH -MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18607 LEXMATCH -MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606852 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101070 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10784 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011738 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011738 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606854 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101070 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606854 LEXMATCH -MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606856 LEXMATCH -MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15401 LEXMATCH -MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606856 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606864 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847319 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97286 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10643 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011740 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011740 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606864 LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97286 LEXMATCH -MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606874 LEXMATCH -MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15402 LEXMATCH -MONDO:0011741 Hirschsprung disease, susceptibility to, 6 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606874 LEXMATCH -MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606875 LEXMATCH -MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15403 LEXMATCH -MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606875 LEXMATCH -MONDO:0011743 Alzheimer disease 4 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606889 LEXMATCH -MONDO:0011743 Alzheimer disease 4 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16511 LEXMATCH -MONDO:0011743 Alzheimer disease 4 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606889 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606893 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847197 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140436 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16961 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011744 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011744 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606893 LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140436 LEXMATCH -MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 LEXMATCH -MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15404 LEXMATCH -MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606943 LEXMATCH -MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 LEXMATCH -MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606943 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352737 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011749 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847024 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79434 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:594 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011749 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011749 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606952 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79434 LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606952 LEXMATCH -MONDO:0011752 nephronophthisis 4 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606966 LEXMATCH -MONDO:0011752 nephronophthisis 4 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606966 LEXMATCH -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606984 LEXMATCH -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606984 LEXMATCH -MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606995 LEXMATCH -MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15405 LEXMATCH -MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606995 LEXMATCH -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606996 LEXMATCH -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15406 LEXMATCH -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606996 LEXMATCH -MONDO:0011757 brachydactyly type A1B skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607004 LEXMATCH -MONDO:0011757 brachydactyly type A1B skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15407 LEXMATCH -MONDO:0011757 brachydactyly type A1B skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607004 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607014 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93473 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12559 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011758 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011758 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607014 LEXMATCH -MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93473 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607015 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056916 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086431 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93476 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12560 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis type ih/s LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011759 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011759 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607015 LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93476 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607016 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93474 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12561 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011760 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011760 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607016 LEXMATCH -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93474 LEXMATCH -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607017 LEXMATCH -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18116 LEXMATCH -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607017 LEXMATCH -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607039 LEXMATCH -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22601 LEXMATCH -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607039 LEXMATCH -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607060 LEXMATCH -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18476 LEXMATCH -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607060 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607078 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846843 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93311 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9794 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011765 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011765 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607078 LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93311 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607080 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751325 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168563 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17034 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607080 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011766 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011766 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607080 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168563 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607080 LEXMATCH -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607084 LEXMATCH -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22602 LEXMATCH -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607084 LEXMATCH -MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607085 LEXMATCH -MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607085 LEXMATCH -MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607087 LEXMATCH -MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15409 LEXMATCH -MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607087 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846823 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139547 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16956 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011771 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011771 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607088 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139547 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607088 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607091 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931009 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79332 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9841 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011772 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011772 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607091 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79332 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846796 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93347 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9657 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011773 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011773 LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93347 LEXMATCH -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607101 LEXMATCH -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22603 LEXMATCH -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607101 LEXMATCH -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607107 LEXMATCH -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma LEXMATCH -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607107 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607115 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1451 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1356 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011776 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011776 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607115 LEXMATCH -MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1451 LEXMATCH -MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607116 LEXMATCH -MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16512 LEXMATCH -MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607116 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607131 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166024 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17014 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607131 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011778 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011778 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607131 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166024 LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607131 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607136 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846707 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98759 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10469 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607136 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011781 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011781 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607136 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98759 LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607136 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607143 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931001 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79324 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9833 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607143 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011783 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011783 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607143 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79324 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607143 LEXMATCH -MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607151 LEXMATCH -MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15410 LEXMATCH -MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607151 LEXMATCH -MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607151 LEXMATCH -MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607151 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607152 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846685 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100999 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9588 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011785 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011785 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607152 LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100999 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607155 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34515 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12533 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607155 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2i LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011787 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011787 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607155 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34515 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607155 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607161 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846671 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93267 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16811 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011788 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011788 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607161 LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93267 LEXMATCH -MONDO:0011789 familial meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607174 LEXMATCH -MONDO:0011789 familial meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18385 LEXMATCH -MONDO:0011789 familial meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607174 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607196 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846648 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99742 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8606 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607196 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011790 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011790 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607196 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99742 LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607196 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18193 LEXMATCH -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607200 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607214 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1094 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5123 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011795 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011795 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607214 LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1094 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607225 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931441 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293168 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4914 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607225 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011797 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011797 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607225 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293168 LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607225 LEXMATCH -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607239 LEXMATCH -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22604 LEXMATCH -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607239 LEXMATCH -MONDO:0011800 glioma susceptibility 4 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607248 LEXMATCH -MONDO:0011800 glioma susceptibility 4 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607248 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607250 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846574 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94124 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10000 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 1 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011801 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011801 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607250 LEXMATCH -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94124 LEXMATCH -MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607258 LEXMATCH -MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18584 LEXMATCH -MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607258 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607259 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711370 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99013 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4927 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011803 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011803 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607259 LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99013 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607271 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275517 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9796 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011804 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011804 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607271 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275517 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488265 LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10887 LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011806 LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011806 LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607278 LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488265 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18235 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607304 LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846496 LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2744 LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12682 LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011810 LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011810 LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2744 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607317 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95434 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4952 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607317 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011811 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011811 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607317 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95434 LEXMATCH -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607317 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93293 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9182 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011812 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011812 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93293 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:959 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16551 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011812 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011812 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607323 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:959 LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607323 LEXMATCH -MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607324 LEXMATCH -MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18174 LEXMATCH -MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607324 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15411 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607326 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607330 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846421 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46059 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9711 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607330 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011816 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011816 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607330 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46059 LEXMATCH -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607330 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268994 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10190 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011818 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011818 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268994 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607341 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607346 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98772 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12365 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011819 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011819 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607346 LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98772 LEXMATCH -MONDO:0011821 Meckel syndrome, type 3 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607361 LEXMATCH -MONDO:0011821 Meckel syndrome, type 3 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8744 LEXMATCH -MONDO:0011821 Meckel syndrome, type 3 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607361 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607364 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846343 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93605 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9659 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011822 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011822 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607364 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93605 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607371 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79107 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9818 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011823 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011823 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607371 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79107 LEXMATCH -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607398 LEXMATCH -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15412 LEXMATCH -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607398 LEXMATCH -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 LEXMATCH -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22538 LEXMATCH -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607417 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95232 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16838 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011830 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011830 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95232 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99796 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subcortical band heterotopia LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011830 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607432 LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607432 LEXMATCH -MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607450 LEXMATCH -MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607450 LEXMATCH -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 LEXMATCH -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18118 LEXMATCH -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607453 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607454 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843891 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98773 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9999 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011833 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011833 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607454 LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98773 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607458 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843884 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98771 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9976 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011834 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011834 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607458 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98771 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607459 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402082 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17671 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011835 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011835 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607459 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402082 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70595 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9998 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011835 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011835 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607459 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70595 LEXMATCH -MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607464 LEXMATCH -MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9428 LEXMATCH -MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607464 LEXMATCH -MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 LEXMATCH -MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18196 LEXMATCH -MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607473 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607475 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843816 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85128 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16734 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607475 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011838 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011838 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607475 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85128 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607475 LEXMATCH -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607482 LEXMATCH -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15413 LEXMATCH -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607482 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199348 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17097 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011841 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011841 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607483 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199348 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843807 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65284 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10237 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011841 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011841 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607483 LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65284 LEXMATCH -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 LEXMATCH -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607485 LEXMATCH -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 LEXMATCH -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607485 LEXMATCH -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607516 LEXMATCH -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569 LEXMATCH -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607516 LEXMATCH -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011851 LEXMATCH -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607516 LEXMATCH -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607516 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607541 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275685 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98963 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9278 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607541 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011855 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011855 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607541 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98963 LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607541 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843706 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168552 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8719 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011856 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011856 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607543 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168552 LEXMATCH -MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607554 LEXMATCH -MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15414 LEXMATCH -MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607554 LEXMATCH -MONDO:0011860 leprosy, susceptibility to, 2 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607572 LEXMATCH -MONDO:0011860 leprosy, susceptibility to, 2 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15415 LEXMATCH -MONDO:0011860 leprosy, susceptibility to, 2 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607572 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607584 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843569 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101004 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9296 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011862 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011862 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607584 LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101004 LEXMATCH -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 LEXMATCH -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607594 LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607596 LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15416 LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 LEXMATCH -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607596 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607598 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843478 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137776 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9177 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011868 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011868 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607598 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137776 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137783 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011868 LEXMATCH -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281139 LEXMATCH -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17304 LEXMATCH -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011870 LEXMATCH -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011870 LEXMATCH -MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281139 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77293 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10729 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011871 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011871 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607616 LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77293 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607624 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868679 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79477 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4483 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011872 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011872 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607624 LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79477 LEXMATCH -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607625 LEXMATCH -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607625 LEXMATCH -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607625 LEXMATCH -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607625 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607626 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843355 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59303 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10583 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011874 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011874 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607626 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59303 LEXMATCH -MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 LEXMATCH -MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607628 LEXMATCH -MONDO:0011876 juvenile absence epilepsy skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1941 LEXMATCH -MONDO:0011876 juvenile absence epilepsy skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2162 LEXMATCH -MONDO:0011876 juvenile absence epilepsy skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011876 LEXMATCH -MONDO:0011876 juvenile absence epilepsy skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011876 LEXMATCH -MONDO:0011876 juvenile absence epilepsy skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1941 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607634 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2783 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4151 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011877 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011877 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607634 LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2783 LEXMATCH -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607641 LEXMATCH -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18270 LEXMATCH -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607641 LEXMATCH -MONDO:0011880 candidiasis, familial, 3 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607644 LEXMATCH -MONDO:0011880 candidiasis, familial, 3 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15418 LEXMATCH -MONDO:0011880 candidiasis, familial, 3 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607644 LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9173 LEXMATCH -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607654 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607655 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293165 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5231 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011882 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011882 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607655 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293165 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607656 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307766 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10163 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011883 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011883 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607656 LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:307766 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607658 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843285 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307936 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17384 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011884 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011884 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607658 LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:307936 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069039 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843273 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91500 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9252 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011885 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011885 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607665 LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91500 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607671 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98807 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10537 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt13 type LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011886 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011886 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607671 LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98807 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607676 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843256 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70592 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10311 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607676 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011888 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011888 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607676 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70592 LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607676 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607677 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99942 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9197 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2i LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011889 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011889 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607677 LEXMATCH -MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99942 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607678 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101084 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9189 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011890 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011890 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607678 LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101084 LEXMATCH -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 LEXMATCH -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607681 LEXMATCH -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 LEXMATCH -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18058 LEXMATCH -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607681 LEXMATCH -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607682 LEXMATCH -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607682 LEXMATCH -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607683 LEXMATCH -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18119 LEXMATCH -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607683 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607684 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99939 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9193 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011894 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011894 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607684 LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99939 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607685 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206141 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3260 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16625 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011895 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011895 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607685 LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3260 LEXMATCH -MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607688 LEXMATCH -MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18477 LEXMATCH -MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607688 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137639 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16948 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011897 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011897 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137639 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447893 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011897 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447896 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011897 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77295 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentoleukoencephalopathy LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011897 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88637 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18087 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011897 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607694 LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607694 LEXMATCH -MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607706 LEXMATCH -MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607706 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501846 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2701 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10719 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011899 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011899 LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2701 LEXMATCH -MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607728 LEXMATCH -MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9504 LEXMATCH -MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607728 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607731 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843173 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101102 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9196 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011901 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011901 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607731 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101102 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843164 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101085 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9191 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011902 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011902 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101085 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607734 LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607734 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607736 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99943 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9198 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2j LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011903 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011903 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607736 LEXMATCH -MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99943 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140927 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1518 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011904 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011904 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140927 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16521 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial infantile convulsions LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607745 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607745 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607765 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79301 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9813 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011906 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011906 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607765 LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79301 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607778 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843096 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63446 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10605 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011907 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011907 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607778 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63446 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023249 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607785 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349639 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86834 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9884 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011908 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011908 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607785 LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86834 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607791 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843075 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100046 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9207 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011909 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011909 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607791 LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100046 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607812 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843042 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50814 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16647 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011911 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011911 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607812 LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50814 LEXMATCH -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607821 LEXMATCH -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22605 LEXMATCH -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607821 LEXMATCH -MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607822 LEXMATCH -MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16513 LEXMATCH -MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607822 LEXMATCH -MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607823 LEXMATCH -MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15420 LEXMATCH -MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607823 LEXMATCH -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607829 LEXMATCH -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15421 LEXMATCH -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607829 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101097 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12448 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011916 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011916 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607831 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101097 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99944 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011916 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607831 LEXMATCH -MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 LEXMATCH -MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15422 LEXMATCH -MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607832 LEXMATCH -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607841 LEXMATCH -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18120 LEXMATCH -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607841 LEXMATCH -MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607842 LEXMATCH -MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18275 LEXMATCH -MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607842 LEXMATCH -MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607842 LEXMATCH -MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607842 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607847 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842930 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2688 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16605 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607847 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011922 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011922 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607847 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2688 LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607847 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lama2-related muscular dystrophy LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607855 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1263858 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:258 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3843 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607855 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy type 1a LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011925 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011925 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607855 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:258 LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607855 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607859 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346073 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1063 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:425 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011927 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011927 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607859 LEXMATCH -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1063 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1756 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1164 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011928 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011928 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607864 LEXMATCH -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1756 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842870 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1606 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6082 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011929 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011929 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607872 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1606 LEXMATCH -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 LEXMATCH -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18083 LEXMATCH -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607876 LEXMATCH -MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607903 LEXMATCH -MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15423 LEXMATCH -MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607903 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607906 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79326 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9836 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011933 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011933 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607906 LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79326 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057070 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607907 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392784 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31112 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9569 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011934 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011934 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607907 LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31112 LEXMATCH -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 LEXMATCH -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10401 LEXMATCH -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607921 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864689 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139471 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3645 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011936 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011936 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607932 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139471 LEXMATCH -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 LEXMATCH -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18426 LEXMATCH -MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607936 LEXMATCH -MONDO:0011938 atrial septal defect 2 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607941 LEXMATCH -MONDO:0011938 atrial septal defect 2 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607941 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432222 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1855 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4978 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011939 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011939 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607944 LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1855 LEXMATCH -MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607948 LEXMATCH -MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2456 LEXMATCH -MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607948 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842704 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85212 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10675 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011945 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011945 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608013 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85212 LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608013 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608022 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842691 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66637 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16674 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011946 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011946 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608022 LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66637 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608027 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842687 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97249 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10708 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011948 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011948 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608027 LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97249 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608029 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842676 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284332 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4954 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011950 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011950 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608029 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284332 LEXMATCH -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 LEXMATCH -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9874 LEXMATCH -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608030 LEXMATCH -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 LEXMATCH -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9874 LEXMATCH -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608030 LEXMATCH -MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608031 LEXMATCH -MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10500 LEXMATCH -MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608031 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608033 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88619 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13232 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011953 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011953 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608033 LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88619 LEXMATCH -MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608035 LEXMATCH -MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18577 LEXMATCH -MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608035 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608051 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319640 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17467 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011957 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011957 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608051 LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319640 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000748 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085077 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3243 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:521 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608068 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011959 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011959 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608068 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3243 LEXMATCH -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608068 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608088 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842586 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139564 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16958 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011961 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011961 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608088 LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139564 LEXMATCH -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 LEXMATCH -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10167 LEXMATCH -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608091 LEXMATCH -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 LEXMATCH -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608091 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608093 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931004 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86309 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9837 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011964 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011964 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608093 LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86309 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98819 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5135 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial temporal lobe epilepsy LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011965 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011965 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608096 LEXMATCH -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98819 LEXMATCH -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 LEXMATCH -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608097 LEXMATCH -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 LEXMATCH -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15424 LEXMATCH -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608097 LEXMATCH -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 LEXMATCH -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608098 LEXMATCH -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 LEXMATCH -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15425 LEXMATCH -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608098 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608099 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:62 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:438 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011968 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011968 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608099 LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:62 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608104 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931002 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79325 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9834 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011969 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011969 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608104 LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79325 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842531 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163727 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17003 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011970 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011970 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608105 LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163727 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101092 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10581 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011971 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011971 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608106 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101092 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608106 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033266 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608115 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085083 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64739 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16668 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011972 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011972 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608115 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64739 LEXMATCH -MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608133 LEXMATCH -MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10386 LEXMATCH -MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608133 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842466 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96334 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5409 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011975 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011975 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608149 LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96334 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608154 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50811 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16646 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011976 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011976 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608154 LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50811 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608156 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842464 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178303 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4722 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011977 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011977 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608156 LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178303 LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842914 LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99000 LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10909 LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011979 LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011979 LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99000 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842422 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295197 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17359 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011984 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011984 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608180 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295197 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608180 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842413 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101091 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10580 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011985 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011985 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608184 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101091 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608184 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608189 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842402 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103918 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16946 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011986 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011986 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608189 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103918 LEXMATCH -MONDO:0011987 cone-rod dystrophy 13 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608194 LEXMATCH -MONDO:0011987 cone-rod dystrophy 13 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15426 LEXMATCH -MONDO:0011987 cone-rod dystrophy 13 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608194 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842398 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183707 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18299 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17087 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608203 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011988 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011988 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608203 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183707 LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608203 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024198 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023281 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:507 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6881 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011989 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011989 LEXMATCH -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:507 LEXMATCH -MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608217 LEXMATCH -MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15427 LEXMATCH -MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608217 LEXMATCH -MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608219 LEXMATCH -MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22606 LEXMATCH -MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608219 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608220 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936860 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101005 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9582 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011992 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011992 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608220 LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101005 LEXMATCH -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608224 LEXMATCH -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18121 LEXMATCH -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608224 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608227 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314993 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17440 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011995 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011995 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608227 LEXMATCH -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314993 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009013 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608232 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023473 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6105 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011996 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011996 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608232 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842362 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183678 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9435 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15026 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011997 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011997 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608233 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183678 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 LEXMATCH -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608233 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608236 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140481 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16962 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0011998 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0011998 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608236 LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140481 LEXMATCH -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608264 LEXMATCH -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22607 LEXMATCH -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608264 LEXMATCH -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608265 LEXMATCH -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22608 LEXMATCH -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608265 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608266 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:143 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7329 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012004 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012004 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608266 LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:143 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608290 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842307 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140936 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10367 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012008 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012008 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608290 LEXMATCH -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140936 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608323 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842237 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100045 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12439 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012012 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012012 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608323 LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100045 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2084 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2452 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012013 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012013 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608328 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2084 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15428 LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608328 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608340 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842197 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217055 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12453 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012014 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012014 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608340 LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217055 LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137667 LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11904 LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012016 LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012016 LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137667 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93283 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16814 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012019 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012019 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608361 LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93283 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608363 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675369 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1727 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10557 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 22q11.2 duplication syndrome LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012020 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012020 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608363 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1727 LEXMATCH -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 LEXMATCH -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608371 LEXMATCH -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 LEXMATCH -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608371 LEXMATCH -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 LEXMATCH -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608371 LEXMATCH -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 LEXMATCH -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18122 LEXMATCH -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608372 LEXMATCH -MONDO:0012024 retinitis pigmentosa 26 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608380 LEXMATCH -MONDO:0012024 retinitis pigmentosa 26 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10397 LEXMATCH -MONDO:0012024 retinitis pigmentosa 26 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608380 LEXMATCH -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608389 LEXMATCH -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15430 LEXMATCH -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608389 LEXMATCH -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608389 LEXMATCH -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608389 LEXMATCH -MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608393 LEXMATCH -MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15431 LEXMATCH -MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608393 LEXMATCH -MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608394 LEXMATCH -MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18123 LEXMATCH -MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608394 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608406 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842082 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52047 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16652 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012032 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012032 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608406 LEXMATCH -MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52047 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608415 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75374 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12299 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012033 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012033 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608415 LEXMATCH -MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75374 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608423 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55595 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12530 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608423 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1f LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012034 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012034 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608423 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55595 LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608423 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52054 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16653 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012035 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012035 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608432 LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52054 LEXMATCH -MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 LEXMATCH -MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22539 LEXMATCH -MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608443 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608456 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608456 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247798 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10805 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012041 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012041 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608456 LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247798 LEXMATCH -MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608462 LEXMATCH -MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15432 LEXMATCH -MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608462 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98961 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9276 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reis-bücklers corneal dystrophy LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012043 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012043 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608470 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98961 LEXMATCH -MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608471 LEXMATCH -MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10320 LEXMATCH -MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608471 LEXMATCH -MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608471 LEXMATCH -MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608471 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608540 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931005 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79327 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9838 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608540 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012052 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012052 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608540 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79327 LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608540 LEXMATCH -MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 LEXMATCH -MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10033 LEXMATCH -MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608542 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608545 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2370 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16595 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012055 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012055 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608545 LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2370 LEXMATCH -MONDO:0012056 Leber congenital amaurosis 9 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608553 LEXMATCH -MONDO:0012056 Leber congenital amaurosis 9 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9491 LEXMATCH -MONDO:0012056 Leber congenital amaurosis 9 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608553 LEXMATCH -MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608562 LEXMATCH -MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18175 LEXMATCH -MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608562 LEXMATCH -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608565 LEXMATCH -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22609 LEXMATCH -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608565 LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040639 LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166282 LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13663 LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012061 LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012061 LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166282 LEXMATCH -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 LEXMATCH -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15434 LEXMATCH -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608569 LEXMATCH -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608569 LEXMATCH -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608569 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608571 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52056 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16654 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012063 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012063 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608571 LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52056 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608572 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1200 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10041 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012064 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012064 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608572 LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1200 LEXMATCH -MONDO:0012066 atrial fibrillation, familial, 1 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608583 LEXMATCH -MONDO:0012066 atrial fibrillation, familial, 1 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608583 LEXMATCH -MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608594 LEXMATCH -MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:84 LEXMATCH -MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608594 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608600 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79084 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12598 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial partial lipodystrophy, köbberling type LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012072 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012072 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608600 LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79084 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608611 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291609 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440706 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17747 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012073 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012073 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608611 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440706 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837756 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90154 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9989 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type b lipodystrophy LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012074 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012074 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608612 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90154 LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608612 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608615 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837750 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300576 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17376 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012075 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012075 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608615 LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300576 LEXMATCH -MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608627 LEXMATCH -MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10499 LEXMATCH -MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608627 LEXMATCH -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 LEXMATCH -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15435 LEXMATCH -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608629 LEXMATCH -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 LEXMATCH -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608629 LEXMATCH -MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608634 LEXMATCH -MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18263 LEXMATCH -MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608634 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675336 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238446 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17172 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012081 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012081 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608636 LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238446 LEXMATCH -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 LEXMATCH -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18124 LEXMATCH -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608641 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608643 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35708 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:770 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608643 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012084 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012084 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608643 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35708 LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608643 LEXMATCH -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608644 LEXMATCH -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15436 LEXMATCH -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608644 LEXMATCH -MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608645 LEXMATCH -MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18125 LEXMATCH -MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608645 LEXMATCH -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608646 LEXMATCH -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15437 LEXMATCH -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608646 LEXMATCH -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608647 LEXMATCH -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15438 LEXMATCH -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608647 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608649 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837610 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88621 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9886 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis-prematurity syndrome LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012089 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012089 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608649 LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88621 LEXMATCH -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608652 LEXMATCH -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18126 LEXMATCH -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608652 LEXMATCH -MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608653 LEXMATCH -MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22610 LEXMATCH -MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608653 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608654 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64752 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12328 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012092 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012092 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608654 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64752 LEXMATCH -MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608656 LEXMATCH -MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15439 LEXMATCH -MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608656 LEXMATCH -MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608658 LEXMATCH -MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15440 LEXMATCH -MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608658 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608670 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837564 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364577 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17583 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012095 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012095 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608670 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364577 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608673 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99945 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12432 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012096 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012096 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608673 LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99945 LEXMATCH -MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 LEXMATCH -MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9703 LEXMATCH -MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608681 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608687 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837541 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101110 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9997 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012098 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012098 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608687 LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101110 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608688 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837530 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250977 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13781 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608688 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012099 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012099 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608688 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250977 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608688 LEXMATCH -MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608695 LEXMATCH -MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18228 LEXMATCH -MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608695 LEXMATCH -MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608696 LEXMATCH -MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18229 LEXMATCH -MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608696 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608703 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837518 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101111 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9996 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012103 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012103 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608703 LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101111 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220989 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79087 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10509 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012104 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012104 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79087 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047888 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608710 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495801 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:900 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7880 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012105 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012105 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608710 LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:900 LEXMATCH -MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608716 LEXMATCH -MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15441 LEXMATCH -MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608716 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608728 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837481 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156728 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10611 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608728 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012108 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012108 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608728 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156728 LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608728 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608747 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837475 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73272 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10627 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012110 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012110 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608747 LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73272 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608768 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837454 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98760 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4956 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012116 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012116 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608768 LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98760 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608776 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931006 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79328 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9839 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type il LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012117 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012117 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608776 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79328 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79333 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9842 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012118 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012118 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608779 LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79333 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837429 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79246 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9888 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012120 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012120 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608782 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79246 LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608782 LEXMATCH -MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608796 LEXMATCH -MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15442 LEXMATCH -MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608796 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608799 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79322 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9831 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012123 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012123 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608799 LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79322 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608800 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837371 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168593 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12382 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012124 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012124 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608800 LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168593 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608804 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837355 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280282 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17293 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012125 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012125 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608804 LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280282 LEXMATCH -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86820 LEXMATCH -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10914 LEXMATCH -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012126 LEXMATCH -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012126 LEXMATCH -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86820 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608807 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837342 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140922 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12534 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2j LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012127 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012127 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608807 LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140922 LEXMATCH -MONDO:0012128 transposition of the great arteries, dextro-looped skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608808 LEXMATCH -MONDO:0012128 transposition of the great arteries, dextro-looped skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608808 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608810 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399058 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17651 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608810 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-b crystallin-related late-onset distal myopathy LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012130 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012130 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608810 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399058 LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608810 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608811 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498485 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10066 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012131 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012131 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608811 LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498485 LEXMATCH -MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608816 LEXMATCH -MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15443 LEXMATCH -MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608816 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608836 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833518 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228308 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17151 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012136 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012136 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608836 LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228308 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608837 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319340 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17448 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012137 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012137 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608837 LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319340 LEXMATCH -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608840 LEXMATCH -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370968 LEXMATCH -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608840 LEXMATCH -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012138 LEXMATCH -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608840 LEXMATCH -MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608840 LEXMATCH -MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608864 LEXMATCH -MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18304 LEXMATCH -MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608864 LEXMATCH -MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608864 LEXMATCH -MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608864 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18305 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608874 LEXMATCH -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608874 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608885 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837206 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168577 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17036 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012143 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012143 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608885 LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168577 LEXMATCH -MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 LEXMATCH -MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608890 LEXMATCH -MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 LEXMATCH -MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15444 LEXMATCH -MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608890 LEXMATCH -MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608895 LEXMATCH -MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608895 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608898 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:540 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9928 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608898 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012146 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608898 LEXMATCH -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608898 LEXMATCH -MONDO:0012154 myopia 6 skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608908 LEXMATCH -MONDO:0012154 myopia 6 skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9937 LEXMATCH -MONDO:0012154 myopia 6 skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608908 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008587 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608911 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137914 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16951 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012155 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012155 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608911 LEXMATCH -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137914 LEXMATCH -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 LEXMATCH -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608930 LEXMATCH -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 LEXMATCH -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15445 LEXMATCH -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608930 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10108 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608931 LEXMATCH -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:608931 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837073 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85167 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10647 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012160 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012160 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608940 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85167 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608957 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837065 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169085 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17047 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012161 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012161 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608957 LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169085 LEXMATCH -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608970 LEXMATCH -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18238 LEXMATCH -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608970 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169154 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012163 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608971 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169157 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012163 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608971 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169160 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18293 LEXMATCH -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012163 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608978 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837026 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3097 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3432 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012164 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012164 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608978 LEXMATCH -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3097 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750433 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217266 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10595 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012165 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012165 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608980 LEXMATCH -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217266 LEXMATCH -MONDO:0012167 atrial fibrillation, familial, 2 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608988 LEXMATCH -MONDO:0012167 atrial fibrillation, familial, 2 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15446 LEXMATCH -MONDO:0012167 atrial fibrillation, familial, 2 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608988 LEXMATCH -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609006 LEXMATCH -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22611 LEXMATCH -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609006 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:746 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3684 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609015 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012172 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012172 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609015 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:746 LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609015 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609016 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:5 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6867 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012173 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012173 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609016 LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:5 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609029 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836929 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96170 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9835 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012176 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012176 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609029 LEXMATCH -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96170 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609033 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836916 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88628 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9898 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012177 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012177 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609033 LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88628 LEXMATCH -MONDO:0012179 narcolepsy 3 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609039 LEXMATCH -MONDO:0012179 narcolepsy 3 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15447 LEXMATCH -MONDO:0012179 narcolepsy 3 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609039 LEXMATCH -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609040 LEXMATCH -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609040 LEXMATCH -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609040 LEXMATCH -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609040 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609041 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836899 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101007 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16940 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012181 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012181 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609041 LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101007 LEXMATCH -MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609048 LEXMATCH -MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18578 LEXMATCH -MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609048 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609049 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2670 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9420 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609049 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012184 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012184 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609049 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2670 LEXMATCH -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609049 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836862 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168555 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:458 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012185 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012185 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609052 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168555 LEXMATCH -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609053 LEXMATCH -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15448 LEXMATCH -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609053 LEXMATCH -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609054 LEXMATCH -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15449 LEXMATCH -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609054 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228357 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6618 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln9 disease LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012188 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012188 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609055 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228357 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 LEXMATCH -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609055 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609057 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836823 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300333 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17367 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012190 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012190 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609057 LEXMATCH -MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300333 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609060 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836797 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137681 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16949 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609060 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012191 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012191 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609060 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137681 LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609060 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609069 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836780 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65288 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16670 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609069 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012192 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012192 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609069 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65288 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609069 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609115 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55596 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12531 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1g LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012193 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012193 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609115 LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55596 LEXMATCH -MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 LEXMATCH -MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18322 LEXMATCH -MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609122 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836756 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65720 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16672 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012195 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012195 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609128 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65720 LEXMATCH -MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609129 LEXMATCH -MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18127 LEXMATCH -MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609129 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609135 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0348890 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5836 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012197 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012197 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609135 LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609136 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836727 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163746 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17004 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012198 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012198 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609136 LEXMATCH -MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163746 LEXMATCH -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609140 LEXMATCH -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18213 LEXMATCH -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609140 LEXMATCH -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609141 LEXMATCH -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18214 LEXMATCH -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609141 LEXMATCH -MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2858 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012203 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012203 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609152 LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609153 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836705 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90044 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16785 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012204 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012204 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609153 LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90044 LEXMATCH -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609161 LEXMATCH -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant striatal neurodegeneration LEXMATCH -MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609161 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609162 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137678 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10220 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012206 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012206 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609162 LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137678 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609165 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665704 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281190 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17305 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012208 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012208 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609165 LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281190 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609166 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836673 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50815 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16648 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012209 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012209 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609166 LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50815 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609180 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836669 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79323 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9832 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012211 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012211 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609180 LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79323 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9458 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609192 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91387 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012212 LEXMATCH -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609192 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609195 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836632 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101006 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9587 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012213 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012213 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609195 LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101006 LEXMATCH -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609197 LEXMATCH -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15450 LEXMATCH -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609197 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:266 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10229 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012215 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012215 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609200 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:266 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182920 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866785 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268129 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012215 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012215 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268129 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98911 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16871 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012215 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012215 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609200 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98911 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397618 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17632 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012216 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012216 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609218 LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397618 LEXMATCH -MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609220 LEXMATCH -MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10023 LEXMATCH -MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609220 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609227 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836573 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79478 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9715 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012220 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012220 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609227 LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79478 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79279 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:116 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012221 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012221 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79279 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79281 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012221 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609242 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836522 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79280 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9161 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disease LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012222 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012222 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609242 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79280 LEXMATCH -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609254 LEXMATCH -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15451 LEXMATCH -MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609254 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609260 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836485 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99947 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16925 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609260 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2a2 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012231 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012231 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609260 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99947 LEXMATCH -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609260 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609270 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836474 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284324 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12232 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012235 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012235 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609270 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284324 LEXMATCH -MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609273 LEXMATCH -MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15452 LEXMATCH -MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609273 LEXMATCH -MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609273 LEXMATCH -MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609273 LEXMATCH -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609283 LEXMATCH -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16498 LEXMATCH -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609283 LEXMATCH -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609283 LEXMATCH -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609283 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15453 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15453 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171881 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012239 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609284 LEXMATCH -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609284 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15454 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609285 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15454 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609285 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171881 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012240 LEXMATCH -MONDO:0012240 congenital myopathy 23 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609285 LEXMATCH -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609286 LEXMATCH -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16499 LEXMATCH -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609286 LEXMATCH -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609286 LEXMATCH -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609286 LEXMATCH -MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilu syndrome LEXMATCH -MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome LEXMATCH -MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609299 LEXMATCH -MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15455 LEXMATCH -MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609299 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15456 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15456 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609304 LEXMATCH -MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609304 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609306 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836395 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101112 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9995 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012246 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012246 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609306 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101112 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836383 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98764 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9963 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012247 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012247 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98764 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609308 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86812 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12535 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609308 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2k LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012248 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012248 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609308 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86812 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609308 LEXMATCH -MONDO:0012249 Lynch syndrome 2 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609310 LEXMATCH -MONDO:0012249 Lynch syndrome 2 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15457 LEXMATCH -MONDO:0012249 Lynch syndrome 2 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609310 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609311 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836336 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99954 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12442 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012250 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012250 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609311 LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99954 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609313 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836330 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171851 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17072 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609313 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012251 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012251 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609313 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171851 LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609313 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18318 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99966 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012252 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609322 LEXMATCH -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609322 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609324 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836315 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166029 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17015 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012253 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012253 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609324 LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166029 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609325 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836307 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166032 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17016 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012254 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012254 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609325 LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166032 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836295 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101008 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16941 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012256 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012256 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609340 LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101008 LEXMATCH -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609345 LEXMATCH -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15458 LEXMATCH -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609345 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609352 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836284 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158681 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16990 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012258 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012258 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609352 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158681 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9492 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609376 LEXMATCH -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 LEXMATCH -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15459 LEXMATCH -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609384 LEXMATCH -MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609402 LEXMATCH -MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18390 LEXMATCH -MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609402 LEXMATCH -MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609403 LEXMATCH -MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18391 LEXMATCH -MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609403 LEXMATCH -MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609404 LEXMATCH -MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18392 LEXMATCH -MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609404 LEXMATCH -MONDO:0012267 holoprosencephaly 8 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609408 LEXMATCH -MONDO:0012267 holoprosencephaly 8 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609408 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609425 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674949 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65286 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11974 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012269 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012269 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609425 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65286 LEXMATCH -MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 LEXMATCH -MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9814 LEXMATCH -MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609428 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609432 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836206 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157801 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10590 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012271 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012271 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609432 LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157801 LEXMATCH -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609439 LEXMATCH -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22612 LEXMATCH -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609439 LEXMATCH -MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH -MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609441 LEXMATCH -MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH -MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609441 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016524 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609442 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236026 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1906 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5447 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609442 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproic acid embryopathy LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012275 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012275 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609442 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1906 LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609442 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609446 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836173 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79137 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16704 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012276 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012276 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609446 LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79137 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609452 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836155 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98912 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1886 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609452 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label late-onset distal myopathy, markesbery-griggs type LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012277 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012277 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609452 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98912 LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609452 LEXMATCH -MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 LEXMATCH -MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18344 LEXMATCH -MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609454 LEXMATCH -MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 LEXMATCH -MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609454 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609460 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836123 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66629 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9849 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012280 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012280 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609460 LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66629 LEXMATCH -MONDO:0012285 left ventricular noncompaction 2 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609470 LEXMATCH -MONDO:0012285 left ventricular noncompaction 2 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15460 LEXMATCH -MONDO:0012285 left ventricular noncompaction 2 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609470 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609508 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609508 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15461 LEXMATCH -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609508 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609524 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171445 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17062 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle filaminopathy LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012289 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012289 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609524 LEXMATCH -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171445 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836033 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66631 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9940 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012290 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012290 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609528 LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66631 LEXMATCH -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609533 LEXMATCH -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22613 LEXMATCH -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609533 LEXMATCH -MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 LEXMATCH -MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2191 LEXMATCH -MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609536 LEXMATCH -MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 LEXMATCH -MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609536 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609541 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320406 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17479 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012297 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012297 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609541 LEXMATCH -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320406 LEXMATCH -MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609545 LEXMATCH -MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome LEXMATCH -MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609545 LEXMATCH -MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609549 LEXMATCH -MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18626 LEXMATCH -MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609549 LEXMATCH -MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609558 LEXMATCH -MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15462 LEXMATCH -MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609558 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609560 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501891 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254875 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18369 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17228 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012301 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012301 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609560 LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254875 LEXMATCH -MONDO:0012302 parietal foramina 3 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609566 LEXMATCH -MONDO:0012302 parietal foramina 3 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18052 LEXMATCH -MONDO:0012302 parietal foramina 3 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609566 LEXMATCH -MONDO:0012304 photoparoxysmal response 2 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609572 LEXMATCH -MONDO:0012304 photoparoxysmal response 2 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15463 LEXMATCH -MONDO:0012304 photoparoxysmal response 2 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609572 LEXMATCH -MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609573 LEXMATCH -MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15464 LEXMATCH -MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609573 LEXMATCH -MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609578 LEXMATCH -MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18071 LEXMATCH -MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609578 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609579 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865070 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168624 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3426 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012307 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012307 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609579 LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168624 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220497 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15465 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10169 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012308 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012308 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609583 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220497 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609583 LEXMATCH -MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609597 LEXMATCH -MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18053 LEXMATCH -MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609597 LEXMATCH -MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609597 LEXMATCH -MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609597 LEXMATCH -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609612 LEXMATCH -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15466 LEXMATCH -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609612 LEXMATCH -MONDO:0012312 short QT syndrome type 1 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609620 LEXMATCH -MONDO:0012312 short QT syndrome type 1 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18633 LEXMATCH -MONDO:0012312 short QT syndrome type 1 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609620 LEXMATCH -MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609621 LEXMATCH -MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18634 LEXMATCH -MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609621 LEXMATCH -MONDO:0012314 short QT syndrome type 3 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609622 LEXMATCH -MONDO:0012314 short QT syndrome type 3 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18635 LEXMATCH -MONDO:0012314 short QT syndrome type 3 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609622 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609625 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674937 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96148 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3711 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012315 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012315 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609625 LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96148 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072223 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609628 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864997 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77297 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10088 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012316 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012316 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609628 LEXMATCH -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77297 LEXMATCH -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 LEXMATCH -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609629 LEXMATCH -MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609630 LEXMATCH -MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15467 LEXMATCH -MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609630 LEXMATCH -MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609634 LEXMATCH -MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10974 LEXMATCH -MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609634 LEXMATCH -MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609634 LEXMATCH -MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609634 LEXMATCH -MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609636 LEXMATCH -MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16514 LEXMATCH -MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609636 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609637 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609638 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864826 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158687 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9910 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012323 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012323 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609638 LEXMATCH -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158687 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609640 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264200 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2384 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012324 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012324 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609640 LEXMATCH -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264200 LEXMATCH -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609646 LEXMATCH -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22614 LEXMATCH -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609646 LEXMATCH -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609647 LEXMATCH -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22615 LEXMATCH -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609647 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609655 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864784 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50809 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10061 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012330 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012330 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609655 LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50809 LEXMATCH -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609706 LEXMATCH -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22616 LEXMATCH -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609706 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609727 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857855 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101009 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9729 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609727 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 29 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012334 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012334 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609727 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101009 LEXMATCH -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609727 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609734 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857854 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71526 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10823 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012335 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012335 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609734 LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71526 LEXMATCH -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609741 LEXMATCH -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609741 LEXMATCH -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98988 LEXMATCH -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012336 LEXMATCH -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012336 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857844 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96121 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12076 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609757 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012342 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012342 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609757 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96121 LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609757 LEXMATCH -MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609782 LEXMATCH -MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16492 LEXMATCH -MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609782 LEXMATCH -MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609790 LEXMATCH -MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16515 LEXMATCH -MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609790 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853354 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263534 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12863 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome 2 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012345 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012345 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609796 LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263534 LEXMATCH -MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609800 LEXMATCH -MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18662 LEXMATCH -MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609800 LEXMATCH -MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609812 LEXMATCH -MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10662 LEXMATCH -MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609812 LEXMATCH -MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 LEXMATCH -MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4973 LEXMATCH -MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609813 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18551 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93571 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012350 LEXMATCH -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609814 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853294 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295187 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17357 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012351 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012351 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609815 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295187 LEXMATCH -MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609820 LEXMATCH -MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18355 LEXMATCH -MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609820 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609821 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853278 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36355 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12478 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012354 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012354 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609821 LEXMATCH -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36355 LEXMATCH -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609823 LEXMATCH -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22617 LEXMATCH -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609823 LEXMATCH -MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609888 LEXMATCH -MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609888 LEXMATCH -MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609888 LEXMATCH -MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609888 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609889 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835931 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231154 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13712 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012359 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012359 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609889 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231154 LEXMATCH -MONDO:0012362 dilated cardiomyopathy 1P skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609909 LEXMATCH -MONDO:0012362 dilated cardiomyopathy 1P skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15469 LEXMATCH -MONDO:0012362 dilated cardiomyopathy 1P skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609909 LEXMATCH -MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609913 LEXMATCH -MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10395 LEXMATCH -MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609913 LEXMATCH -MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609913 LEXMATCH -MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609913 LEXMATCH -MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609915 LEXMATCH -MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15470 LEXMATCH -MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609915 LEXMATCH -MONDO:0012367 retinitis pigmentosa 31 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609923 LEXMATCH -MONDO:0012367 retinitis pigmentosa 31 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10396 LEXMATCH -MONDO:0012367 retinitis pigmentosa 31 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609923 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609924 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835922 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137754 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9741 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012368 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012368 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609924 LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137754 LEXMATCH -MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609941 LEXMATCH -MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9918 LEXMATCH -MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609941 LEXMATCH -MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609942 LEXMATCH -MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9885 LEXMATCH -MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609942 LEXMATCH -MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609942 LEXMATCH -MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609942 LEXMATCH -MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609946 LEXMATCH -MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9935 LEXMATCH -MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609946 LEXMATCH -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609952 LEXMATCH -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9919 LEXMATCH -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609952 LEXMATCH -MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609955 LEXMATCH -MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9911 LEXMATCH -MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609955 LEXMATCH -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609965 LEXMATCH -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9934 LEXMATCH -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609965 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609968 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263458 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17256 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012381 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012381 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609968 LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263458 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609975 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71212 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9870 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012382 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012382 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609975 LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71212 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75391 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16695 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012383 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012383 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609981 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75391 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609993 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75325 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9904 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012387 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012387 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609993 LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75325 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1947 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4010 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610003 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012391 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012391 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610003 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1947 LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610003 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610006 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864912 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79157 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10322 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610006 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012392 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012392 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610006 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79157 LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610006 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610015 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71278 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9848 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012393 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012393 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610015 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71278 LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9916 LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610017 LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610017 LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610017 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9892 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610019 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610021 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864902 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:165991 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9932 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610021 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012396 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012396 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610021 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:165991 LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610021 LEXMATCH -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 LEXMATCH -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10648 LEXMATCH -MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610024 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300573 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17375 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012399 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012399 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610031 LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300573 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610042 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864887 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163681 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16997 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012400 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012400 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610042 LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163681 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610048 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864738 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101068 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16943 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012401 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012401 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610048 LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101068 LEXMATCH -MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610069 LEXMATCH -MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18276 LEXMATCH -MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610069 LEXMATCH -MONDO:0012406 hyperparathyroidism 3 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610071 LEXMATCH -MONDO:0012406 hyperparathyroidism 3 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18255 LEXMATCH -MONDO:0012406 hyperparathyroidism 3 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610071 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610090 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864723 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79096 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10730 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012407 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012407 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610090 LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79096 LEXMATCH -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610092 LEXMATCH -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15471 LEXMATCH -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610092 LEXMATCH -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610093 LEXMATCH -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610093 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864706 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399086 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17652 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610099 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012410 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012410 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610099 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399086 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610099 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610100 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401964 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12447 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2 with giant axons LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012411 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012411 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610100 LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401964 LEXMATCH -MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610102 LEXMATCH -MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18290 LEXMATCH -MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610102 LEXMATCH -MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610102 LEXMATCH -MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610102 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864690 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178364 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3692 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012413 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012413 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178364 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228337 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1218 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disease LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012414 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012414 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228337 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610127 LEXMATCH -MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610131 LEXMATCH -MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16500 LEXMATCH -MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610131 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610140 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857829 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168796 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9846 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012417 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012417 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610140 LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168796 LEXMATCH -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610143 LEXMATCH -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22618 LEXMATCH -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610143 LEXMATCH -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610153 LEXMATCH -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22619 LEXMATCH -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610153 LEXMATCH -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610154 LEXMATCH -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22620 LEXMATCH -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610154 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610156 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857802 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75858 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10121 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012423 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012423 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610156 LEXMATCH -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75858 LEXMATCH -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610158 LEXMATCH -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18217 LEXMATCH -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610158 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610163 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18294 LEXMATCH -MONDO:0012426 immunodeficiency 25 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610163 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:558 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012427 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10586 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91387 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10586 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012427 LEXMATCH -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610168 LEXMATCH -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610181 LEXMATCH -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15472 LEXMATCH -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610181 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15473 LEXMATCH -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610185 LEXMATCH -MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610187 LEXMATCH -MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15474 LEXMATCH -MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610187 LEXMATCH -MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 LEXMATCH -MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15475 LEXMATCH -MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610188 LEXMATCH -MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 LEXMATCH -MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610188 LEXMATCH -MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610189 LEXMATCH -MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15476 LEXMATCH -MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610189 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610193 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610198 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857776 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66634 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12964 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012435 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012435 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610198 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66634 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610199 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79118 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16699 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012436 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012436 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610199 LEXMATCH -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79118 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610202 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610202 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610202 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610202 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98984 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012437 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98989 LEXMATCH -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012437 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261629 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17252 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012439 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012439 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610205 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261629 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610205 LEXMATCH -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610212 LEXMATCH -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22621 LEXMATCH -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610212 LEXMATCH -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 LEXMATCH -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18323 LEXMATCH -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610213 LEXMATCH -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610217 LEXMATCH -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10688 LEXMATCH -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610217 LEXMATCH -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610220 LEXMATCH -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22622 LEXMATCH -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610220 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610227 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853258 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168606 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17039 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012446 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012446 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610227 LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168606 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853255 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295199 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17360 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012447 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012447 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610234 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295199 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610234 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853250 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101108 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9950 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012449 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012449 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610245 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101108 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610246 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853249 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101109 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9951 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610246 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012450 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012450 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610246 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101109 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610246 LEXMATCH -MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610248 LEXMATCH -MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22623 LEXMATCH -MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610248 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610250 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853247 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101011 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10817 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012453 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012453 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610250 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101011 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261494 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8672 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012455 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012455 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261494 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002947 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83461 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9952 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012456 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012456 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610256 LEXMATCH -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83461 LEXMATCH -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610265 LEXMATCH -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22624 LEXMATCH -MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610265 LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853215 LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329329 LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21489 LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012462 LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012462 LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329329 LEXMATCH -MONDO:0012463 retinitis pigmentosa 35 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610282 LEXMATCH -MONDO:0012463 retinitis pigmentosa 35 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10402 LEXMATCH -MONDO:0012463 retinitis pigmentosa 35 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610282 LEXMATCH -MONDO:0012464 cone-rod dystrophy 10 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610283 LEXMATCH -MONDO:0012464 cone-rod dystrophy 10 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15477 LEXMATCH -MONDO:0012464 cone-rod dystrophy 10 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610283 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610293 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853205 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83639 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9965 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610293 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigm deficiency LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012465 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012465 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610293 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83639 LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610293 LEXMATCH -MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610297 LEXMATCH -MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18608 LEXMATCH -MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610297 LEXMATCH -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610313 LEXMATCH -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18277 LEXMATCH -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610313 LEXMATCH -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610313 LEXMATCH -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610313 LEXMATCH -MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610321 LEXMATCH -MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15478 LEXMATCH -MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610321 LEXMATCH -MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610329 LEXMATCH -MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15479 LEXMATCH -MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610329 LEXMATCH -MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610333 LEXMATCH -MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15480 LEXMATCH -MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610333 LEXMATCH -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 LEXMATCH -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15481 LEXMATCH -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610353 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209932 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10649 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012475 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012475 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610356 LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209932 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610357 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835896 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101010 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16942 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610357 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012476 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012476 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610357 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101010 LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610357 LEXMATCH -MONDO:0012477 retinitis pigmentosa 33 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610359 LEXMATCH -MONDO:0012477 retinitis pigmentosa 33 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10400 LEXMATCH -MONDO:0012477 retinitis pigmentosa 33 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610359 LEXMATCH -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 LEXMATCH -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610361 LEXMATCH -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 LEXMATCH -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610361 LEXMATCH -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 LEXMATCH -MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610361 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610370 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83620 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16729 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012479 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012479 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610370 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83620 LEXMATCH -MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610374 LEXMATCH -MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15482 LEXMATCH -MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610374 LEXMATCH -MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610374 LEXMATCH -MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610374 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072219 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610377 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:29 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3588 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610377 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012481 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012481 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610377 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:29 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610377 LEXMATCH -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 LEXMATCH -MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610379 LEXMATCH -MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15483 LEXMATCH -MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610379 LEXMATCH -MONDO:0012483 cone-rod dystrophy 11 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610381 LEXMATCH -MONDO:0012483 cone-rod dystrophy 11 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15484 LEXMATCH -MONDO:0012483 cone-rod dystrophy 11 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610381 LEXMATCH -MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610419 LEXMATCH -MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22625 LEXMATCH -MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610419 LEXMATCH -MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610422 LEXMATCH -MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4291 LEXMATCH -MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610422 LEXMATCH -MONDO:0012489 cataract 23 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610425 LEXMATCH -MONDO:0012489 cataract 23 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610425 LEXMATCH -MONDO:0012489 cataract 23 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0012489 cataract 23 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012489 LEXMATCH -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610427 LEXMATCH -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15485 LEXMATCH -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610427 LEXMATCH -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610427 LEXMATCH -MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610427 LEXMATCH -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610430 LEXMATCH -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15486 LEXMATCH -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610430 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864872 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168454 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10057 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012495 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012495 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610442 LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168454 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96169 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10727 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012496 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012496 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610443 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96169 LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610443 LEXMATCH -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610444 LEXMATCH -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15487 LEXMATCH -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610444 LEXMATCH -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610445 LEXMATCH -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15488 LEXMATCH -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610445 LEXMATCH -MONDO:0012500 chilblain lupus 1 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610448 LEXMATCH -MONDO:0012500 chilblain lupus 1 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18493 LEXMATCH -MONDO:0012500 chilblain lupus 1 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610448 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306658 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10878 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial normophosphatemic tumoral calcinosis LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012502 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012502 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306658 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610455 LEXMATCH -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610455 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610474 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864852 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85164 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10012 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012504 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012504 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610474 LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85164 LEXMATCH -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610476 LEXMATCH -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610476 LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10650 LEXMATCH -MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610478 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610483 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83617 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10011 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012508 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012508 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610483 LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83617 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610498 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864843 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254920 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17232 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012510 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012510 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610498 LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254920 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610505 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168566 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17035 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012512 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012512 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610505 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168566 LEXMATCH -MONDO:0012513 maturity-onset diabetes of the young type 7 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610508 LEXMATCH -MONDO:0012513 maturity-onset diabetes of the young type 7 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10661 LEXMATCH -MONDO:0012513 maturity-onset diabetes of the young type 7 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610508 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610532 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864663 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85163 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11980 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012514 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012514 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610532 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85163 LEXMATCH -MONDO:0012515 glaucoma 1, open angle, M skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610535 LEXMATCH -MONDO:0012515 glaucoma 1, open angle, M skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18230 LEXMATCH -MONDO:0012515 glaucoma 1, open angle, M skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610535 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610536 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864652 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79113 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10056 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012516 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012516 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610536 LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79113 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864651 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309252 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12503 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012517 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012517 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610539 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309252 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610539 LEXMATCH -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 LEXMATCH -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18451 LEXMATCH -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610542 LEXMATCH -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 LEXMATCH -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610542 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353281 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10754 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012519 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012519 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610543 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353281 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610543 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610549 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2297 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3008 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012520 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012520 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610549 LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2297 LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1930 LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6649 LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpes simplex virus encephalitis LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012521 LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012521 LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1930 LEXMATCH -MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610582 LEXMATCH -MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15490 LEXMATCH -MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610582 LEXMATCH -MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610582 LEXMATCH -MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610582 LEXMATCH -MONDO:0012523 retinitis pigmentosa 36 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610599 LEXMATCH -MONDO:0012523 retinitis pigmentosa 36 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10403 LEXMATCH -MONDO:0012523 retinitis pigmentosa 36 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610599 LEXMATCH -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 LEXMATCH -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610600 LEXMATCH -MONDO:0012525 Leber congenital amaurosis 12 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610612 LEXMATCH -MONDO:0012525 Leber congenital amaurosis 12 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10489 LEXMATCH -MONDO:0012525 Leber congenital amaurosis 12 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610612 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100054 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16935 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae 3 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012526 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012526 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100054 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610618 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610618 LEXMATCH -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610623 LEXMATCH -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610623 LEXMATCH -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610623 LEXMATCH -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610623 LEXMATCH -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012527 LEXMATCH -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 LEXMATCH -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10772 LEXMATCH -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610628 LEXMATCH -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 LEXMATCH -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10772 LEXMATCH -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610628 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10241 LEXMATCH -MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610629 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610644 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85112 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16733 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012530 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012530 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610644 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85112 LEXMATCH -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 LEXMATCH -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5625 LEXMATCH -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610651 LEXMATCH -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 LEXMATCH -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5625 LEXMATCH -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610651 LEXMATCH -MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610655 LEXMATCH -MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10615 LEXMATCH -MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610655 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610678 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857682 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254925 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17233 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012534 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012534 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610678 LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254925 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216804 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8701 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012536 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8701 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012536 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8701 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012536 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610682 LEXMATCH -MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610685 LEXMATCH -MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15492 LEXMATCH -MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610685 LEXMATCH -MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610687 LEXMATCH -MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15493 LEXMATCH -MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610687 LEXMATCH -MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610687 LEXMATCH -MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610687 LEXMATCH -MONDO:0012539 Joubert syndrome 6 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610688 LEXMATCH -MONDO:0012539 Joubert syndrome 6 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15494 LEXMATCH -MONDO:0012539 Joubert syndrome 6 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610688 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610706 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853144 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90024 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10707 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012541 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012541 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610706 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90024 LEXMATCH -MONDO:0012543 optic atrophy 5 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610708 LEXMATCH -MONDO:0012543 optic atrophy 5 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10201 LEXMATCH -MONDO:0012543 optic atrophy 5 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610708 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610713 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93409 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16821 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-syndactyly, zhao type LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012544 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012544 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610713 LEXMATCH -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93409 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610717 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98908 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10288 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012545 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012545 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610717 LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98908 LEXMATCH -MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610725 LEXMATCH -MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15495 LEXMATCH -MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610725 LEXMATCH -MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610733 LEXMATCH -MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10699 LEXMATCH -MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610733 LEXMATCH -MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610733 LEXMATCH -MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610733 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99749 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:302 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012548 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012548 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610738 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99749 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610743 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683483 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88644 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12234 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610743 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012549 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012549 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610743 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88644 LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610743 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15496 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610753 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:701 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15496 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012551 LEXMATCH -MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610753 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610755 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970712 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276152 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17275 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012552 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012552 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610755 LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276152 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15497 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610756 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 LEXMATCH -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610756 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15498 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610758 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 LEXMATCH -MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610758 LEXMATCH -MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610759 LEXMATCH -MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15499 LEXMATCH -MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610759 LEXMATCH -MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610759 LEXMATCH -MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610759 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610768 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91131 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12393 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012556 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012556 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610768 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91131 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610773 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835845 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91130 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16795 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610773 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012557 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012557 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610773 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91130 LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610773 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610798 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835829 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90023 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16783 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012559 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012559 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610798 LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90023 LEXMATCH -MONDO:0012562 holoprosencephaly 7 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610828 LEXMATCH -MONDO:0012562 holoprosencephaly 7 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610828 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610829 LEXMATCH -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610832 LEXMATCH -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15500 LEXMATCH -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610832 LEXMATCH -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610840 LEXMATCH -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15501 LEXMATCH -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610840 LEXMATCH -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610840 LEXMATCH -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610840 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610842 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835813 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91135 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16796 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012570 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012570 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610842 LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91135 LEXMATCH -MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610852 LEXMATCH -MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15502 LEXMATCH -MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610852 LEXMATCH -MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610878 LEXMATCH -MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18419 LEXMATCH -MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610878 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610883 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931246 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1713 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10145 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610883 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012574 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012574 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610883 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1713 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610883 LEXMATCH -MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610896 LEXMATCH -MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15503 LEXMATCH -MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610896 LEXMATCH -MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 LEXMATCH -MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18345 LEXMATCH -MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610898 LEXMATCH -MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 LEXMATCH -MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610898 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610910 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970472 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:747 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7499 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012579 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012579 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610910 LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:747 LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931035 LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264675 LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4582 LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012580 LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012580 LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264675 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216804 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10152 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012581 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610915 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10152 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012581 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610915 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 LEXMATCH -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610915 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610921 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440402 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17745 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012582 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012582 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610921 LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440402 LEXMATCH -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610926 LEXMATCH -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18248 LEXMATCH -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610926 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228366 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1220 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disease LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012588 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012588 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610951 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228366 LEXMATCH -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610951 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610954 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970431 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2896 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4372 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610954 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012589 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012589 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610954 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2896 LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610954 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216828 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8699 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012591 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012591 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610967 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216828 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610967 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12875 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012592 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610968 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12875 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012592 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610968 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 LEXMATCH -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610968 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610978 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209905 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12163 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012593 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012593 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610978 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209905 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610984 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463916 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:200418 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17098 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with factor i anomaly LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012594 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012594 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610984 LEXMATCH -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:200418 LEXMATCH -MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610988 LEXMATCH -MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15504 LEXMATCH -MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610988 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610992 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970253 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284417 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13273 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:610992 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012596 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012596 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610992 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284417 LEXMATCH -MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:610992 LEXMATCH -MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610997 LEXMATCH -MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15505 LEXMATCH -MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610997 LEXMATCH -MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611010 LEXMATCH -MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2475 LEXMATCH -MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611010 LEXMATCH -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611022 LEXMATCH -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22626 LEXMATCH -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611022 LEXMATCH -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611031 LEXMATCH -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98809 LEXMATCH -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15506 LEXMATCH -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012603 LEXMATCH -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611031 LEXMATCH -MONDO:0012604 isolated microphthalmia 3 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611038 LEXMATCH -MONDO:0012604 isolated microphthalmia 3 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611038 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251279 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17205 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012605 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012605 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611040 LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251279 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611067 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970211 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206580 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17101 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012608 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012608 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611067 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206580 LEXMATCH -MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611073 LEXMATCH -MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16516 LEXMATCH -MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611073 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500533 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12913 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyhydramnios-megalencephaly-symptomatic epilepsy syndrome LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012611 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012611 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611087 LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500533 LEXMATCH -MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 LEXMATCH -MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22540 LEXMATCH -MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611090 LEXMATCH -MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 LEXMATCH -MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22541 LEXMATCH -MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611091 LEXMATCH -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 LEXMATCH -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22542 LEXMATCH -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611092 LEXMATCH -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611092 LEXMATCH -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611092 LEXMATCH -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611093 LEXMATCH -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22543 LEXMATCH -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611093 LEXMATCH -MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611095 LEXMATCH -MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22544 LEXMATCH -MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611095 LEXMATCH -MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 LEXMATCH -MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22545 LEXMATCH -MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611096 LEXMATCH -MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611097 LEXMATCH -MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22546 LEXMATCH -MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611097 LEXMATCH -MONDO:0012620 prostate cancer, hereditary, 10 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611100 LEXMATCH -MONDO:0012620 prostate cancer, hereditary, 10 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15507 LEXMATCH -MONDO:0012620 prostate cancer, hereditary, 10 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611100 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611102 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94064 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11911 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012621 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012621 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611102 LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94064 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611105 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137898 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12652 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012622 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012622 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611105 LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137898 LEXMATCH -MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 LEXMATCH -MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22547 LEXMATCH -MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611107 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970173 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99901 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12986 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012624 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012624 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611126 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99901 LEXMATCH -MONDO:0012625 retinitis pigmentosa 37 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611131 LEXMATCH -MONDO:0012625 retinitis pigmentosa 37 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15508 LEXMATCH -MONDO:0012625 retinitis pigmentosa 37 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611131 LEXMATCH -MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611134 LEXMATCH -MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15509 LEXMATCH -MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611134 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611136 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64280 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18059 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012627 LEXMATCH -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611136 LEXMATCH -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611147 LEXMATCH -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15510 LEXMATCH -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611147 LEXMATCH -MONDO:0012630 Alzheimer disease 13 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611152 LEXMATCH -MONDO:0012630 Alzheimer disease 13 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16517 LEXMATCH -MONDO:0012630 Alzheimer disease 13 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611152 LEXMATCH -MONDO:0012631 Alzheimer disease 14 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611154 LEXMATCH -MONDO:0012631 Alzheimer disease 14 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16518 LEXMATCH -MONDO:0012631 Alzheimer disease 14 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611154 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611174 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314555 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17422 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012634 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012634 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611174 LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314555 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611182 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970021 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95428 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12411 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611182 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012635 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012635 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611182 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95428 LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611182 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611209 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263508 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10226 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611209 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012637 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012637 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611209 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263508 LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611209 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77299 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9292 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012638 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012638 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611222 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77299 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611225 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209951 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4922 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012639 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012639 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611225 LEXMATCH -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209951 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611228 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970011 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139515 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12443 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012640 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012640 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611228 LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139515 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611252 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970009 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171622 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12749 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012643 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012643 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611252 LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171622 LEXMATCH -MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611263 LEXMATCH -MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15511 LEXMATCH -MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611263 LEXMATCH -MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611263 LEXMATCH -MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611263 LEXMATCH -MONDO:0012645 glaucoma 1, open angle, N skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611274 LEXMATCH -MONDO:0012645 glaucoma 1, open angle, N skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18231 LEXMATCH -MONDO:0012645 glaucoma 1, open angle, N skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611274 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969809 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79159 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10223 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012648 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012648 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611283 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79159 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611291 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169079 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17045 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012650 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012650 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611291 LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169079 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611302 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397946 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17644 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012651 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012651 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611302 LEXMATCH -MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397946 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611307 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969785 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206549 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12536 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611307 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2l LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012652 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012652 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611307 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206549 LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611307 LEXMATCH -MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611308 LEXMATCH -MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18168 LEXMATCH -MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611308 LEXMATCH -MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 LEXMATCH -MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611363 LEXMATCH -MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 LEXMATCH -MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15512 LEXMATCH -MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611363 LEXMATCH -MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611364 LEXMATCH -MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15513 LEXMATCH -MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611364 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611369 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969655 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137783 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12644 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012656 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012656 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611369 LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137783 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969652 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140908 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16963 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012658 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012658 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140908 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611377 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611377 LEXMATCH -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 LEXMATCH -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15514 LEXMATCH -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611383 LEXMATCH -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 LEXMATCH -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611383 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611390 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969645 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314603 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17425 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia with leukoencephalopathy LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012664 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012664 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611390 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314603 LEXMATCH -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 LEXMATCH -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611391 LEXMATCH -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 LEXMATCH -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18236 LEXMATCH -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611391 LEXMATCH -MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611407 LEXMATCH -MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15515 LEXMATCH -MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611407 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969623 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137605 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10714 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012669 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012669 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611431 LEXMATCH -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137605 LEXMATCH -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611451 LEXMATCH -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22627 LEXMATCH -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611451 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611489 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199247 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13101 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012675 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012675 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611489 LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199247 LEXMATCH -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 LEXMATCH -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5993 LEXMATCH -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611490 LEXMATCH -MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611493 LEXMATCH -MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15516 LEXMATCH -MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611493 LEXMATCH -MONDO:0012678 atrial fibrillation, familial, 5 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611494 LEXMATCH -MONDO:0012678 atrial fibrillation, familial, 5 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15517 LEXMATCH -MONDO:0012678 atrial fibrillation, familial, 5 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611494 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611497 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210110 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4156 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intermediate osteopetrosis LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012679 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012679 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611497 LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210110 LEXMATCH -MONDO:0012680 nephronophthisis 7 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611498 LEXMATCH -MONDO:0012680 nephronophthisis 7 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611498 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611521 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969086 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331226 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17514 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012682 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012682 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611521 LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331226 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611523 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969084 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166073 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10710 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012683 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012683 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611523 LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166073 LEXMATCH -MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611528 LEXMATCH -MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611528 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611543 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464760 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17822 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012687 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012687 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611543 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464760 LEXMATCH -MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611544 LEXMATCH -MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611544 LEXMATCH -MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012688 LEXMATCH -MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611553 LEXMATCH -MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10700 LEXMATCH -MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611553 LEXMATCH -MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611553 LEXMATCH -MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611553 LEXMATCH -MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611554 LEXMATCH -MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15518 LEXMATCH -MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611554 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611556 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137625 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10760 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611556 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012693 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012693 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611556 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137625 LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611556 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220497 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15519 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012694 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611560 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 LEXMATCH -MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611560 LEXMATCH -MONDO:0012695 Meckel syndrome, type 5 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611561 LEXMATCH -MONDO:0012695 Meckel syndrome, type 5 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15520 LEXMATCH -MONDO:0012695 Meckel syndrome, type 5 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611561 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15521 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611584 LEXMATCH -MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611584 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611588 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969040 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206554 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12538 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611588 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012699 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012699 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611588 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206554 LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611588 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969038 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93610 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12354 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012700 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012700 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611590 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93610 LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611590 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611597 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611597 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012701 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611597 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611597 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98992 LEXMATCH -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012701 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171680 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17066 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012703 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012703 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611603 LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171680 LEXMATCH -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611615 LEXMATCH -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15522 LEXMATCH -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611615 LEXMATCH -MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611630 LEXMATCH -MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18279 LEXMATCH -MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611630 LEXMATCH -MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611631 LEXMATCH -MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15523 LEXMATCH -MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611631 LEXMATCH -MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611637 LEXMATCH -MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611637 LEXMATCH -MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611638 LEXMATCH -MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15524 LEXMATCH -MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611638 LEXMATCH -MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611644 LEXMATCH -MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15525 LEXMATCH -MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611644 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673677 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289377 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17324 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012714 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012714 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611705 LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289377 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673649 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163654 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10629 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012716 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012716 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611717 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163654 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611719 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673642 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137908 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16950 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012718 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012718 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611719 LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137908 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611721 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139406 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12505 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012719 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012719 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611721 LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139406 LEXMATCH -MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611722 LEXMATCH -MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611722 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611726 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673257 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263516 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2167 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012721 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012721 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611726 LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263516 LEXMATCH -MONDO:0012723 Leber congenital amaurosis 10 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611755 LEXMATCH -MONDO:0012723 Leber congenital amaurosis 10 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10487 LEXMATCH -MONDO:0012723 Leber congenital amaurosis 10 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611755 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611762 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673198 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247868 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17201 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012724 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012724 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611762 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247868 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611771 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673196 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329481 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17504 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012725 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012725 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611771 LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329481 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611773 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673195 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73229 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10889 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012726 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012726 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611773 LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73229 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611775 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026691 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2331 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6816 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611775 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disease LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012727 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012727 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611775 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2331 LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611775 LEXMATCH -MONDO:0012728 Brugada syndrome 2 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611777 LEXMATCH -MONDO:0012728 Brugada syndrome 2 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15526 LEXMATCH -MONDO:0012728 Brugada syndrome 2 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611777 LEXMATCH -MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611783 LEXMATCH -MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18356 LEXMATCH -MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611783 LEXMATCH -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611788 LEXMATCH -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15527 LEXMATCH -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611788 LEXMATCH -MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611804 LEXMATCH -MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15528 LEXMATCH -MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611804 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611809 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139455 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10301 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012733 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012733 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611809 LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139455 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611812 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678492 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139466 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10302 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012734 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012734 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611812 LEXMATCH -MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139466 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611816 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678486 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420561 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9441 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012735 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012735 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611816 LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420561 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10435 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012736 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611818 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 LEXMATCH -MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611818 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10436 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012737 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611819 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:334 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012737 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611819 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 LEXMATCH -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611819 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10437 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012738 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611820 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 LEXMATCH -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611820 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611863 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678482 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139450 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10300 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012739 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012739 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611863 LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139450 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611867 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678480 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261330 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17245 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611867 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012740 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012740 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611867 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261330 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611867 LEXMATCH -MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611868 LEXMATCH -MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15529 LEXMATCH -MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611868 LEXMATCH -MONDO:0012742 Brugada syndrome 3 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611875 LEXMATCH -MONDO:0012742 Brugada syndrome 3 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10361 LEXMATCH -MONDO:0012742 Brugada syndrome 3 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611875 LEXMATCH -MONDO:0012743 Brugada syndrome 4 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611876 LEXMATCH -MONDO:0012743 Brugada syndrome 4 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10362 LEXMATCH -MONDO:0012743 Brugada syndrome 4 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611876 LEXMATCH -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 LEXMATCH -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15530 LEXMATCH -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611878 LEXMATCH -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 LEXMATCH -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611878 LEXMATCH -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611879 LEXMATCH -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15531 LEXMATCH -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611879 LEXMATCH -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611880 LEXMATCH -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15532 LEXMATCH -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611880 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272066 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:57 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:600 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012747 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012747 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611881 LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:57 LEXMATCH -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611884 LEXMATCH -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15533 LEXMATCH -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611884 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611890 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678471 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53696 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16658 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012750 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012750 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611890 LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53696 LEXMATCH -MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611891 LEXMATCH -MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16493 LEXMATCH -MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611891 LEXMATCH -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 LEXMATCH -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18324 LEXMATCH -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611892 LEXMATCH -MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611895 LEXMATCH -MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10498 LEXMATCH -MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611895 LEXMATCH -MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611897 LEXMATCH -MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18627 LEXMATCH -MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611897 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611907 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677843 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209970 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17108 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012755 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012755 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611907 LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209970 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261197 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10740 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611913 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012756 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012756 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611913 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261197 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611913 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611926 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137631 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16947 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012757 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012757 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611926 LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137631 LEXMATCH -MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611928 LEXMATCH -MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15534 LEXMATCH -MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611928 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611929 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488434 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10573 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012759 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012759 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611929 LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488434 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611936 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749873 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251038 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10360 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012761 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012761 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611936 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251038 LEXMATCH -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611938 LEXMATCH -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15535 LEXMATCH -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611938 LEXMATCH -MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611942 LEXMATCH -MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18060 LEXMATCH -MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611942 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611943 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677792 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420741 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17701 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012764 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012764 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611943 LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420741 LEXMATCH -MONDO:0012765 lymphatic malformation 2 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611944 LEXMATCH -MONDO:0012765 lymphatic malformation 2 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16453 LEXMATCH -MONDO:0012765 lymphatic malformation 2 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611944 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611945 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936880 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171612 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17064 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012766 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012766 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611945 LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171612 LEXMATCH -MONDO:0012768 prostate cancer, hereditary, 11 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611955 LEXMATCH -MONDO:0012768 prostate cancer, hereditary, 11 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15536 LEXMATCH -MONDO:0012768 prostate cancer, hereditary, 11 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611955 LEXMATCH -MONDO:0012769 prostate cancer, hereditary, 14 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611958 LEXMATCH -MONDO:0012769 prostate cancer, hereditary, 14 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15537 LEXMATCH -MONDO:0012769 prostate cancer, hereditary, 14 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611958 LEXMATCH -MONDO:0012770 prostate cancer, hereditary, 15 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611959 LEXMATCH -MONDO:0012770 prostate cancer, hereditary, 15 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15538 LEXMATCH -MONDO:0012770 prostate cancer, hereditary, 15 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611959 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612001 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199318 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10296 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612001 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012774 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012774 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612001 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199318 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612001 LEXMATCH -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 LEXMATCH -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18289 LEXMATCH -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612004 LEXMATCH -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 LEXMATCH -MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612004 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612015 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677590 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:244310 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12394 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012783 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012783 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612015 LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:244310 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677589 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139485 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15539 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10294 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612016 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012784 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012784 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612016 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139485 LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612016 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612018 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247794 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17196 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012786 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012786 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612018 LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247794 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612020 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677586 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139480 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4924 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012787 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012787 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612020 LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139480 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612067 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677567 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210571 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10539 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012789 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012789 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612067 LEXMATCH -MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210571 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15540 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15540 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612069 LEXMATCH -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612069 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1933 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3681 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012791 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012791 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612073 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1933 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612073 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255235 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13200 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012792 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012792 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255235 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:298 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012792 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612075 LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612075 LEXMATCH -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612076 LEXMATCH -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15541 LEXMATCH -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612076 LEXMATCH -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612076 LEXMATCH -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612076 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677535 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157954 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16987 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012794 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012794 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612079 LEXMATCH -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157954 LEXMATCH -MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612095 LEXMATCH -MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10379 LEXMATCH -MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612095 LEXMATCH -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 LEXMATCH -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612099 LEXMATCH -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 LEXMATCH -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10373 LEXMATCH -MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612099 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612109 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157962 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16988 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauricular syndrome, schorderet type LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012802 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012802 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612109 LEXMATCH -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157962 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612119 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268187 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103909 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10372 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012803 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012803 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612119 LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103909 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612126 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842534 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98811 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10541 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal exertion-induced dyskinesia LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012805 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012805 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612126 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98811 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15542 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612132 LEXMATCH -MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612132 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612138 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677349 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158684 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16991 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with pyloric atresia LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012807 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012807 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612138 LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158684 LEXMATCH -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612158 LEXMATCH -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15543 LEXMATCH -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612158 LEXMATCH -MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:closeMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569164 LEXMATCH -MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:closeMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22303 LEXMATCH -MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:closeMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012809 LEXMATCH -MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:closeMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012809 LEXMATCH -MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:closeMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569164 LEXMATCH -MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 LEXMATCH -MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18325 LEXMATCH -MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612161 LEXMATCH -MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 LEXMATCH -MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18326 LEXMATCH -MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612162 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12900 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33069 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12900 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012812 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612164 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:599373 STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599373 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:599373 STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22404 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:599373 STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012812 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:599373 STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012812 LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:599373 STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599373 LEXMATCH -MONDO:0012813 retinitis pigmentosa 29 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612165 LEXMATCH -MONDO:0012813 retinitis pigmentosa 29 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10378 LEXMATCH -MONDO:0012813 retinitis pigmentosa 29 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612165 LEXMATCH -MONDO:0012815 Coats plus syndrome skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313838 LEXMATCH -MONDO:0012815 Coats plus syndrome skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17412 LEXMATCH -MONDO:0012815 Coats plus syndrome skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012815 LEXMATCH -MONDO:0012815 Coats plus syndrome skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012815 LEXMATCH -MONDO:0012815 Coats plus syndrome skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313838 LEXMATCH -MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612201 LEXMATCH -MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15544 LEXMATCH -MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612201 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015560 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553580 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6390 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012817 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012817 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612219 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612219 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 LEXMATCH -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612219 LEXMATCH -MONDO:0012818 maturity-onset diabetes of the young type 9 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612225 LEXMATCH -MONDO:0012818 maturity-onset diabetes of the young type 9 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10663 LEXMATCH -MONDO:0012818 maturity-onset diabetes of the young type 9 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612225 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612233 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280288 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17294 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012824 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012824 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612233 LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280288 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275278 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209916 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17105 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012825 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012825 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612237 LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209916 LEXMATCH -MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612240 LEXMATCH -MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15545 LEXMATCH -MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612240 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276413 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17280 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 10q22.3q23.3 microdeletion syndrome LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012830 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012830 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612242 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276413 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2929 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012830 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612242 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79076 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis of infancy LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012830 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612242 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612247 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93262 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16810 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012833 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012833 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612247 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93262 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612260 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677092 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183713 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12638 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612260 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012839 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012839 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612260 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183713 LEXMATCH -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612260 LEXMATCH -MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612269 LEXMATCH -MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18061 LEXMATCH -MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612269 LEXMATCH -MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612274 LEXMATCH -MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15546 LEXMATCH -MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612274 LEXMATCH -MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612279 LEXMATCH -MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18663 LEXMATCH -MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612279 LEXMATCH -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 LEXMATCH -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15547 LEXMATCH -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612281 LEXMATCH -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 LEXMATCH -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15547 LEXMATCH -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612281 LEXMATCH -MONDO:0012848 Meckel syndrome, type 6 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612284 LEXMATCH -MONDO:0012848 Meckel syndrome, type 6 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15548 LEXMATCH -MONDO:0012848 Meckel syndrome, type 6 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612284 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15549 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612285 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612285 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612285 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 LEXMATCH -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612285 LEXMATCH -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612286 LEXMATCH -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18346 LEXMATCH -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612286 LEXMATCH -MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612287 LEXMATCH -MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18347 LEXMATCH -MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612287 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345382 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2095 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:66 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012853 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012853 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612289 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2095 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2963 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4497 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012853 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012853 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612289 LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2963 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612290 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676772 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140963 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16966 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012854 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012854 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612290 LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140963 LEXMATCH -MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612291 LEXMATCH -MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15550 LEXMATCH -MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612291 LEXMATCH -MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612291 LEXMATCH -MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612291 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612292 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166108 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10358 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612292 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability, birk-barel type LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012856 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012856 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612292 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166108 LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612292 LEXMATCH -MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612293 LEXMATCH -MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15551 LEXMATCH -MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612293 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612300 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169464 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17054 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012858 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012858 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612300 LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169464 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612301 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676766 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178389 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10106 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012859 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012859 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612301 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178389 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13041 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612304 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251019 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13206 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012864 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012864 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612313 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251019 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612313 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label satb2-associated syndrome LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576283 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18013 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012864 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012864 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612313 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576283 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171629 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10538 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012866 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012866 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171629 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612319 LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612319 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612335 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676732 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171617 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17065 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012867 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012867 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612335 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171617 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068370 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26349 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18799 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protein s acquired deficiency LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012868 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012868 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26349 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612336 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18568 LEXMATCH -MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612336 LEXMATCH -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612337 LEXMATCH -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36367 LEXMATCH -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012869 LEXMATCH -MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612337 LEXMATCH -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 LEXMATCH -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612347 LEXMATCH -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 LEXMATCH -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10364 LEXMATCH -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612347 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676510 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157965 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12610 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd-eds LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012873 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012873 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612350 LEXMATCH -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157965 LEXMATCH -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612353 LEXMATCH -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15552 LEXMATCH -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612353 LEXMATCH -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 LEXMATCH -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10773 LEXMATCH -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612370 LEXMATCH -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 LEXMATCH -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10773 LEXMATCH -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612370 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001019 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612376 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:520 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:538 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012883 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012883 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612376 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:520 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3150191 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324737 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12397 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012885 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012885 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612379 LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324737 LEXMATCH -MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612387 LEXMATCH -MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18595 LEXMATCH -MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612387 LEXMATCH -MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612388 LEXMATCH -MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18596 LEXMATCH -MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612388 LEXMATCH -MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612389 LEXMATCH -MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15553 LEXMATCH -MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612389 LEXMATCH -MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612390 LEXMATCH -MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15554 LEXMATCH -MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612390 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612394 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676285 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300284 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17362 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012892 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012892 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612394 LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300284 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612406 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370103 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10536 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt17 type LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012895 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012895 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612406 LEXMATCH -MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370103 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612416 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015523 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9670 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012897 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012897 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612416 LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329 LEXMATCH -MONDO:0012898 narcolepsy 4, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612417 LEXMATCH -MONDO:0012898 narcolepsy 4, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15555 LEXMATCH -MONDO:0012898 narcolepsy 4, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612417 LEXMATCH -MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612422 LEXMATCH -MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18072 LEXMATCH -MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612422 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:749 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4477 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012901 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012901 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612423 LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:749 LEXMATCH -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612431 LEXMATCH -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18128 LEXMATCH -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612431 LEXMATCH -MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612433 LEXMATCH -MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22628 LEXMATCH -MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612433 LEXMATCH -MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612437 LEXMATCH -MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15556 LEXMATCH -MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612437 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612438 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139441 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15557 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10917 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012905 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012905 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612438 LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139441 LEXMATCH -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612444 LEXMATCH -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15558 LEXMATCH -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612444 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612445 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676234 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171844 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17070 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012907 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012907 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612445 LEXMATCH -MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171844 LEXMATCH -MONDO:0012908 complement component 6 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612446 LEXMATCH -MONDO:0012908 complement component 6 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18291 LEXMATCH -MONDO:0012908 complement component 6 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612446 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612462 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932716 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79444 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10681 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012911 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012911 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612462 LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79444 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612463 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033835 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79445 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7860 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012912 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012912 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612463 LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79445 LEXMATCH -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612469 LEXMATCH -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15559 LEXMATCH -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612469 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612474 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250989 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10813 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012914 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012914 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612474 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250989 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612475 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675891 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250994 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10591 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012915 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012915 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612475 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250994 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612513 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675875 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261349 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13391 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012916 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012916 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612513 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261349 LEXMATCH -MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612518 LEXMATCH -MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15560 LEXMATCH -MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612518 LEXMATCH -MONDO:0012923 congenital generalized lipodystrophy type 3 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612526 LEXMATCH -MONDO:0012923 congenital generalized lipodystrophy type 3 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13389 LEXMATCH -MONDO:0012923 congenital generalized lipodystrophy type 3 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612526 LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612527 LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15561 LEXMATCH -MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612527 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15562 LEXMATCH -MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612528 LEXMATCH -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 LEXMATCH -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15563 LEXMATCH -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612529 LEXMATCH -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 LEXMATCH -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612529 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612530 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250999 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3738 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012927 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012927 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612530 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250999 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612539 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675528 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171863 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17073 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012928 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012928 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612539 LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171863 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210163 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17111 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lethal myopathy, compton-north type LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012929 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012929 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612540 LEXMATCH -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210163 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675526 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331176 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17511 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612541 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012930 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012930 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612541 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331176 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612541 LEXMATCH -MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612551 LEXMATCH -MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15564 LEXMATCH -MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612551 LEXMATCH -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 LEXMATCH -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12352 LEXMATCH -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612555 LEXMATCH -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 LEXMATCH -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612555 LEXMATCH -MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612557 LEXMATCH -MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15565 LEXMATCH -MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612557 LEXMATCH -MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612558 LEXMATCH -MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15566 LEXMATCH -MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612558 LEXMATCH -MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612559 LEXMATCH -MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15567 LEXMATCH -MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612559 LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15568 LEXMATCH -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612561 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612562 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15569 LEXMATCH -MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612562 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15570 LEXMATCH -MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612563 LEXMATCH -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612567 LEXMATCH -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18342 LEXMATCH -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612567 LEXMATCH -MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612572 LEXMATCH -MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15571 LEXMATCH -MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612572 LEXMATCH -MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612572 LEXMATCH -MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612572 LEXMATCH -MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612576 LEXMATCH -MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15572 LEXMATCH -MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612576 LEXMATCH -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612577 LEXMATCH -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10496 LEXMATCH -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612577 LEXMATCH -MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612580 LEXMATCH -MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16454 LEXMATCH -MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612580 LEXMATCH -MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612581 LEXMATCH -MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16455 LEXMATCH -MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612581 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612582 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675486 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96125 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16845 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012948 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012948 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612582 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96125 LEXMATCH -MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 LEXMATCH -MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18327 LEXMATCH -MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612586 LEXMATCH -MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 LEXMATCH -MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18328 LEXMATCH -MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612587 LEXMATCH -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 LEXMATCH -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612591 LEXMATCH -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 LEXMATCH -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18485 LEXMATCH -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612591 LEXMATCH -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612621 LEXMATCH -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12558 LEXMATCH -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612621 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612626 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675463 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1596 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16572 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012964 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012964 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612626 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1596 LEXMATCH -MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 LEXMATCH -MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16505 LEXMATCH -MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612627 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612631 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675459 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86817 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16760 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012967 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012967 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612631 LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86817 LEXMATCH -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 LEXMATCH -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15573 LEXMATCH -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612632 LEXMATCH -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 LEXMATCH -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612632 LEXMATCH -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612642 LEXMATCH -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18129 LEXMATCH -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612642 LEXMATCH -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612643 LEXMATCH -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18130 LEXMATCH -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612643 LEXMATCH -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612644 LEXMATCH -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18131 LEXMATCH -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612644 LEXMATCH -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612645 LEXMATCH -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22629 LEXMATCH -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612645 LEXMATCH -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612649 LEXMATCH -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15574 LEXMATCH -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612649 LEXMATCH -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612650 LEXMATCH -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15575 LEXMATCH -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612650 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612651 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199332 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17094 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612651 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012980 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012980 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612651 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199332 LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612651 LEXMATCH -MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612653 LEXMATCH -MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15576 LEXMATCH -MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612653 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612656 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675211 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209967 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17107 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012982 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012982 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612656 LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209967 LEXMATCH -MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612657 LEXMATCH -MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15577 LEXMATCH -MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612657 LEXMATCH -MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612657 LEXMATCH -MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612657 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612674 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675204 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171848 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17071 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612674 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012984 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012984 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612674 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171848 LEXMATCH -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612674 LEXMATCH -MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612690 LEXMATCH -MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15578 LEXMATCH -MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612690 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:208441 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10785 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012986 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012986 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612691 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:208441 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612691 LEXMATCH -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 LEXMATCH -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612692 LEXMATCH -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 LEXMATCH -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15579 LEXMATCH -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612692 LEXMATCH -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 LEXMATCH -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10774 LEXMATCH -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612702 LEXMATCH -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 LEXMATCH -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10774 LEXMATCH -MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612702 LEXMATCH -MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612703 LEXMATCH -MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15580 LEXMATCH -MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612703 LEXMATCH -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 LEXMATCH -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10882 LEXMATCH -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612712 LEXMATCH -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 LEXMATCH -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612712 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612714 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199337 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17095 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012992 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012992 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612714 LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199337 LEXMATCH -MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612715 LEXMATCH -MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15581 LEXMATCH -MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612715 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612716 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268468 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70594 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10365 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012994 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012994 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612716 LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70594 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612718 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675179 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35704 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10323 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012996 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012996 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612718 LEXMATCH -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35704 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301068 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795969 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1415 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9280 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012997 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012997 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301068 LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1415 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612736 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:382 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2578 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612736 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0012999 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0012999 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612736 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:382 LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612736 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612740 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100924 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16937 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013000 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013000 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612740 LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100924 LEXMATCH -MONDO:0013002 cone-rod dystrophy 9 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612775 LEXMATCH -MONDO:0013002 cone-rod dystrophy 9 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15582 LEXMATCH -MONDO:0013002 cone-rod dystrophy 9 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612775 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612776 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141152 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16972 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013003 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013003 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612776 LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141152 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612780 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748572 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199343 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10514 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013005 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013005 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612780 LEXMATCH -MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199343 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231671 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3919 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013006 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013006 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612781 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231671 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612781 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317428 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10524 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013007 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013007 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317428 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612783 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317430 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10523 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013008 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013008 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612783 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317430 LEXMATCH -MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612789 LEXMATCH -MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22630 LEXMATCH -MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612789 LEXMATCH -MONDO:0013011 atrial septal defect 5 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612794 LEXMATCH -MONDO:0013011 atrial septal defect 5 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612794 LEXMATCH -MONDO:0013013 question mark ears, isolated skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612798 LEXMATCH -MONDO:0013013 question mark ears, isolated skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15583 LEXMATCH -MONDO:0013013 question mark ears, isolated skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612798 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612813 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748544 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171866 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10513 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013014 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013014 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612813 LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171866 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15584 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612838 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:871 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013015 LEXMATCH -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612838 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612840 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748536 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99844 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16915 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013016 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013016 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612840 LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99844 LEXMATCH -MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612841 LEXMATCH -MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15585 LEXMATCH -MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612841 LEXMATCH -MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612841 LEXMATCH -MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612841 LEXMATCH -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612843 LEXMATCH -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15586 LEXMATCH -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612843 LEXMATCH -MONDO:0013020 narcolepsy 5, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612851 LEXMATCH -MONDO:0013020 narcolepsy 5, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15587 LEXMATCH -MONDO:0013020 narcolepsy 5, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612851 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748507 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210115 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10516 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013021 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013021 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612852 LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210115 LEXMATCH -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 LEXMATCH -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612858 LEXMATCH -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 LEXMATCH -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612858 LEXMATCH -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 LEXMATCH -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612858 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068739 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363973 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70591 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13124 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013024 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013024 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612862 LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70591 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612863 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251056 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3764 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013025 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013025 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612863 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251056 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612867 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748503 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98959 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16878 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013026 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013026 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612867 LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98959 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612868 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748502 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98971 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16880 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013027 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013027 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612868 LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98971 LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:45 LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:547 LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013028 LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013028 LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:45 LEXMATCH -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612877 LEXMATCH -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15588 LEXMATCH -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612877 LEXMATCH -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 LEXMATCH -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612881 LEXMATCH -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 LEXMATCH -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15589 LEXMATCH -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612881 LEXMATCH -MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612900 LEXMATCH -MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18309 LEXMATCH -MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612900 LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15590 LEXMATCH -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612908 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612913 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141000 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4118 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013035 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013035 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612913 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141000 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612916 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752047 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217017 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10582 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013036 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013036 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612916 LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217017 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612918 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140944 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10939 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612918 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013038 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013038 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612918 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140944 LEXMATCH -MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612918 LEXMATCH -MONDO:0013039 3M syndrome 2 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612921 LEXMATCH -MONDO:0013039 3M syndrome 2 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15591 LEXMATCH -MONDO:0013039 3M syndrome 2 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612921 LEXMATCH -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 LEXMATCH -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612922 LEXMATCH -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 LEXMATCH -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18552 LEXMATCH -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612922 LEXMATCH -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 LEXMATCH -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612923 LEXMATCH -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 LEXMATCH -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18553 LEXMATCH -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612923 LEXMATCH -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 LEXMATCH -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612924 LEXMATCH -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 LEXMATCH -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18554 LEXMATCH -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612924 LEXMATCH -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 LEXMATCH -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612925 LEXMATCH -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 LEXMATCH -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18555 LEXMATCH -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612925 LEXMATCH -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 LEXMATCH -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612926 LEXMATCH -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 LEXMATCH -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18556 LEXMATCH -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612926 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612932 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752027 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99849 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2125 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013046 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013046 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612932 LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99849 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612933 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284426 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3160 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013047 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013047 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612933 LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284426 LEXMATCH -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612936 LEXMATCH -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15592 LEXMATCH -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612936 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612937 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752007 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263494 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12395 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612937 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013049 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013049 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612937 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263494 LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612937 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612938 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210144 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17110 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013050 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013050 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612938 LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210144 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612940 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751987 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357064 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1641 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013051 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013051 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612940 LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357064 LEXMATCH -MONDO:0013052 retinitis pigmentosa 42 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612943 LEXMATCH -MONDO:0013052 retinitis pigmentosa 42 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15593 LEXMATCH -MONDO:0013052 retinitis pigmentosa 42 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612943 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612946 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751878 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217026 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17116 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013053 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013053 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612946 LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217026 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353217 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17532 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612949 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013056 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013056 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612949 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353217 LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612949 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751843 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85136 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13199 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013058 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013058 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612951 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85136 LEXMATCH -MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612952 LEXMATCH -MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10151 LEXMATCH -MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612952 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612953 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751842 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199351 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12568 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013060 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013060 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612953 LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199351 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612954 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199340 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17096 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612954 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, selcen type LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013061 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013061 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612954 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199340 LEXMATCH -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612954 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15595 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013062 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612955 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 LEXMATCH -MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612955 LEXMATCH -MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612956 LEXMATCH -MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15596 LEXMATCH -MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612956 LEXMATCH -MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612956 LEXMATCH -MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612956 LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15597 LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612961 LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612961 LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612961 LEXMATCH -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 LEXMATCH -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15598 LEXMATCH -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612965 LEXMATCH -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 LEXMATCH -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15598 LEXMATCH -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612965 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15599 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612968 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91492 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013067 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013067 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612989 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227976 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17143 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013069 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013069 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612989 LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227976 LEXMATCH -MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612997 LEXMATCH -MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18400 LEXMATCH -MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612997 LEXMATCH -MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612997 LEXMATCH -MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612997 LEXMATCH -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 LEXMATCH -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612998 LEXMATCH -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 LEXMATCH -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18206 LEXMATCH -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612998 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18207 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612999 LEXMATCH -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:612999 LEXMATCH -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613000 LEXMATCH -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18487 LEXMATCH -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613000 LEXMATCH -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613000 LEXMATCH -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613000 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613001 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406612 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2396 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2108 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013074 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013074 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613001 LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2396 LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15601 LEXMATCH -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613007 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15602 LEXMATCH -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613008 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613011 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538963 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17979 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013081 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013081 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613011 LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538963 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751683 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2151 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2695 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013082 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013082 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2151 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013082 LEXMATCH -MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613014 LEXMATCH -MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15604 LEXMATCH -MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013083 LEXMATCH -MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613014 LEXMATCH -MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613015 LEXMATCH -MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15605 LEXMATCH -MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013084 LEXMATCH -MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613015 LEXMATCH -MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613016 LEXMATCH -MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15606 LEXMATCH -MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013085 LEXMATCH -MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613016 LEXMATCH -MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613017 LEXMATCH -MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:635 LEXMATCH -MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15607 LEXMATCH -MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013086 LEXMATCH -MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613017 LEXMATCH -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613021 LEXMATCH -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18055 LEXMATCH -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613021 LEXMATCH -MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613024 LEXMATCH -MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15608 LEXMATCH -MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613024 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751651 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217346 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10592 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013090 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013090 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217346 LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613027 LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751643 LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18387 LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613027 LEXMATCH -MONDO:0013092 glioma susceptibility 2 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613028 LEXMATCH -MONDO:0013092 glioma susceptibility 2 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613028 LEXMATCH -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 LEXMATCH -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613029 LEXMATCH -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 LEXMATCH -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:360 LEXMATCH -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013093 LEXMATCH -MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613029 LEXMATCH -MONDO:0013094 glioma susceptibility 5 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613030 LEXMATCH -MONDO:0013094 glioma susceptibility 5 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613030 LEXMATCH -MONDO:0013095 glioma susceptibility 6 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613031 LEXMATCH -MONDO:0013095 glioma susceptibility 6 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613031 LEXMATCH -MONDO:0013096 glioma susceptibility 7 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613032 LEXMATCH -MONDO:0013096 glioma susceptibility 7 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613032 LEXMATCH -MONDO:0013097 glioma susceptibility 8 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613033 LEXMATCH -MONDO:0013097 glioma susceptibility 8 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613033 LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95494 LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10602 LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined pituitary hormone deficiencies, genetic forms LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013099 LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013099 LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95494 LEXMATCH -MONDO:0013100 atrial fibrillation, familial, 8 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613055 LEXMATCH -MONDO:0013100 atrial fibrillation, familial, 8 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15609 LEXMATCH -MONDO:0013100 atrial fibrillation, familial, 8 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613055 LEXMATCH -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 LEXMATCH -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613060 LEXMATCH -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 LEXMATCH -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613060 LEXMATCH -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613065 LEXMATCH -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613065 LEXMATCH -MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613067 LEXMATCH -MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613067 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613068 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217382 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10594 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613068 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013110 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013110 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613068 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217382 LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613068 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217371 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10593 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013111 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013111 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613070 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217371 LEXMATCH -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613071 LEXMATCH -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18056 LEXMATCH -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613071 LEXMATCH -MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613073 LEXMATCH -MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15610 LEXMATCH -MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613073 LEXMATCH -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613074 LEXMATCH -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18132 LEXMATCH -MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613074 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613075 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751321 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217335 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17120 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613075 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013115 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013115 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613075 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217335 LEXMATCH -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613075 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613076 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751320 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330054 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10522 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613076 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013116 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013116 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613076 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330054 LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613076 LEXMATCH -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613077 LEXMATCH -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16501 LEXMATCH -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613077 LEXMATCH -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613077 LEXMATCH -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613077 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751318 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240760 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17184 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013118 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013118 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613078 LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240760 LEXMATCH -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613079 LEXMATCH -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22631 LEXMATCH -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613079 LEXMATCH -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613080 LEXMATCH -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15611 LEXMATCH -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613080 LEXMATCH -MONDO:0013121 glaucoma 3, primary congenital, C skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613085 LEXMATCH -MONDO:0013121 glaucoma 3, primary congenital, C skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18225 LEXMATCH -MONDO:0013121 glaucoma 3, primary congenital, C skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613085 LEXMATCH -MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613086 LEXMATCH -MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18226 LEXMATCH -MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613086 LEXMATCH -MONDO:0013123 atrial septal defect 6 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613087 LEXMATCH -MONDO:0013123 atrial septal defect 6 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613087 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613089 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168984 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17044 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013125 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013125 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613089 LEXMATCH -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168984 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15613 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15613 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93270 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4834 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013127 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013127 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93270 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432197 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93271 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15613 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4835 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013127 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013127 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613091 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93271 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613092 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217330 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13461 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ren-related autosomal dominant tubulointerstitial kidney disease LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013128 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013128 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613092 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217330 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16449 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613093 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49382 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013129 LEXMATCH -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613093 LEXMATCH -MONDO:0013130 isolated microphthalmia 4 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613094 LEXMATCH -MONDO:0013130 isolated microphthalmia 4 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613094 LEXMATCH -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613095 LEXMATCH -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18599 LEXMATCH -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613095 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613096 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936879 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320365 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17472 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013132 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013132 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613096 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320365 LEXMATCH -MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613099 LEXMATCH -MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18579 LEXMATCH -MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613099 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613101 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:540 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15614 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613101 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013135 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613101 LEXMATCH -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613101 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613102 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217407 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17124 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013136 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013136 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613102 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217407 LEXMATCH -MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613105 LEXMATCH -MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15615 LEXMATCH -MONDO:0013137 choroidal dystrophy, central areolar 2 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613105 LEXMATCH -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613107 LEXMATCH -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15616 LEXMATCH -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613107 LEXMATCH -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613107 LEXMATCH -MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613107 LEXMATCH -MONDO:0013140 candidiasis, familial, 4 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613108 LEXMATCH -MONDO:0013140 candidiasis, familial, 4 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15617 LEXMATCH -MONDO:0013140 candidiasis, familial, 4 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613108 LEXMATCH -MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613115 LEXMATCH -MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15618 LEXMATCH -MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613115 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217467 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17125 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013143 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013143 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613116 LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217467 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613118 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:82 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6148 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013144 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013144 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613118 LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:82 LEXMATCH -MONDO:0013145 Brugada syndrome 6 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613119 LEXMATCH -MONDO:0013145 Brugada syndrome 6 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15619 LEXMATCH -MONDO:0013145 Brugada syndrome 6 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613119 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15620 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613120 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:334 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013146 LEXMATCH -MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613120 LEXMATCH -MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613122 LEXMATCH -MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15621 LEXMATCH -MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613122 LEXMATCH -MONDO:0013148 Brugada syndrome 8 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613123 LEXMATCH -MONDO:0013148 Brugada syndrome 8 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15622 LEXMATCH -MONDO:0013148 Brugada syndrome 8 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613123 LEXMATCH -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 LEXMATCH -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238455 LEXMATCH -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10484 LEXMATCH -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013150 LEXMATCH -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013150 LEXMATCH -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238455 LEXMATCH -MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613144 LEXMATCH -MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15623 LEXMATCH -MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613144 LEXMATCH -MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613148 LEXMATCH -MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18343 LEXMATCH -MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613148 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15624 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15624 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013154 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613150 LEXMATCH -MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613150 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18455 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613151 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613151 LEXMATCH -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613151 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18456 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613152 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613152 LEXMATCH -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613152 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15625 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15625 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013157 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613153 LEXMATCH -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613153 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15626 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15626 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013158 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613154 LEXMATCH -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613154 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370959 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013159 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370968 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013159 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613155 LEXMATCH -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613155 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370959 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013160 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370968 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013160 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613156 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613156 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613157 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206564 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12540 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613157 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2o LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013161 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013161 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613157 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206564 LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613157 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613158 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206559 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12539 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613158 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2n LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013162 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013162 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613158 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206559 LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613158 LEXMATCH -MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 LEXMATCH -MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613159 LEXMATCH -MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 LEXMATCH -MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18180 LEXMATCH -MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613159 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613161 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291512 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65287 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16669 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013164 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013164 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613161 LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65287 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613162 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320396 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17477 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013165 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013165 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613162 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320396 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613163 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342708 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2066 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:194 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013166 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013166 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613163 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2066 LEXMATCH -MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613172 LEXMATCH -MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15627 LEXMATCH -MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613172 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613174 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750805 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329802 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17505 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013169 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013169 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613174 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329802 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613177 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750804 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221145 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17140 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013170 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013170 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613177 LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221145 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613179 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268125 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:760 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4606 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013171 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013171 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613179 LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:760 LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750798 LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250972 LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20687 LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013172 LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013172 LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250972 LEXMATCH -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 LEXMATCH -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22548 LEXMATCH -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613192 LEXMATCH -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613193 LEXMATCH -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15628 LEXMATCH -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613193 LEXMATCH -MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613194 LEXMATCH -MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15629 LEXMATCH -MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613194 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613195 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363992 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17579 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013176 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013176 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613195 LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363992 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613204 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750786 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34520 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12587 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013177 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013177 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613204 LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34520 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613205 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750785 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157973 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12585 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013178 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013178 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613205 LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157973 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750784 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320401 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17478 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 44 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013179 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013179 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613206 LEXMATCH -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320401 LEXMATCH -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 LEXMATCH -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15630 LEXMATCH -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613211 LEXMATCH -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 LEXMATCH -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613211 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613215 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750748 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217385 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17122 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013182 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013182 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613215 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217385 LEXMATCH -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613216 LEXMATCH -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15631 LEXMATCH -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613216 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613217 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:92050 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10630 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013184 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013184 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613217 LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:92050 LEXMATCH -MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613223 LEXMATCH -MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15632 LEXMATCH -MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613223 LEXMATCH -MONDO:0013186 Noonan syndrome 6 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613224 LEXMATCH -MONDO:0013186 Noonan syndrome 6 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10701 LEXMATCH -MONDO:0013186 Noonan syndrome 6 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613224 LEXMATCH -MONDO:0013187 factor XIII, A subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613225 LEXMATCH -MONDO:0013187 factor XIII, A subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15633 LEXMATCH -MONDO:0013187 factor XIII, A subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613225 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15634 LEXMATCH -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613227 LEXMATCH -MONDO:0013190 factor XIII, b subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613235 LEXMATCH -MONDO:0013190 factor XIII, b subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15635 LEXMATCH -MONDO:0013190 factor XIII, b subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613235 LEXMATCH -MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613237 LEXMATCH -MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15636 LEXMATCH -MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613237 LEXMATCH -MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613239 LEXMATCH -MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15637 LEXMATCH -MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613239 LEXMATCH -MONDO:0013196 Lynch syndrome 8 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613244 LEXMATCH -MONDO:0013196 Lynch syndrome 8 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15638 LEXMATCH -MONDO:0013196 Lynch syndrome 8 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613244 LEXMATCH -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613252 LEXMATCH -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15639 LEXMATCH -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613252 LEXMATCH -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613254 LEXMATCH -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15640 LEXMATCH -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613254 LEXMATCH -MONDO:0013201 Waardenburg syndrome type 4B skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613265 LEXMATCH -MONDO:0013201 Waardenburg syndrome type 4B skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15641 LEXMATCH -MONDO:0013201 Waardenburg syndrome type 4B skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613265 LEXMATCH -MONDO:0013202 Waardenburg syndrome type 4C skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613266 LEXMATCH -MONDO:0013202 Waardenburg syndrome type 4C skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15642 LEXMATCH -MONDO:0013202 Waardenburg syndrome type 4C skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613266 LEXMATCH -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613267 LEXMATCH -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18218 LEXMATCH -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613267 LEXMATCH -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 LEXMATCH -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18219 LEXMATCH -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613268 LEXMATCH -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613269 LEXMATCH -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18220 LEXMATCH -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613269 LEXMATCH -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613270 LEXMATCH -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18221 LEXMATCH -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613270 LEXMATCH -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613271 LEXMATCH -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18222 LEXMATCH -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613271 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613280 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309854 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10706 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613280 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013208 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013208 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613280 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309854 LEXMATCH -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613280 LEXMATCH -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613285 LEXMATCH -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22632 LEXMATCH -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613285 LEXMATCH -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613286 LEXMATCH -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15643 LEXMATCH -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613286 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613287 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750090 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228174 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12429 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013212 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013212 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613287 LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228174 LEXMATCH -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613307 LEXMATCH -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22633 LEXMATCH -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613307 LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15644 LEXMATCH -MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613308 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613309 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15645 LEXMATCH -MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613309 LEXMATCH -MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613310 LEXMATCH -MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15646 LEXMATCH -MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613310 LEXMATCH -MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613312 LEXMATCH -MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18417 LEXMATCH -MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613312 LEXMATCH -MONDO:0013220 hemochromatosis type 2B skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613313 LEXMATCH -MONDO:0013220 hemochromatosis type 2B skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15647 LEXMATCH -MONDO:0013220 hemochromatosis type 2B skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613313 LEXMATCH -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613318 LEXMATCH -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15648 LEXMATCH -MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613318 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613319 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750076 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399096 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17653 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013222 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013222 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613319 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399096 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750075 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401979 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17667 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spondylometaphyseal dysplasia, mégarbané type LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013223 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013223 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613320 LEXMATCH -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401979 LEXMATCH -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 LEXMATCH -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18319 LEXMATCH -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613325 LEXMATCH -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 LEXMATCH -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613325 LEXMATCH -MONDO:0013225 congenital generalized lipodystrophy type 4 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613327 LEXMATCH -MONDO:0013225 congenital generalized lipodystrophy type 4 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10937 LEXMATCH -MONDO:0013225 congenital generalized lipodystrophy type 4 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613327 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613328 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750068 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221139 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17139 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013226 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013226 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613328 LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221139 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613329 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:465 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4381 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013227 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013227 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613329 LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:465 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613330 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750066 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228387 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17154 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013228 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013228 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613330 LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228387 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166412 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17028 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013229 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013229 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166412 LEXMATCH -MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 LEXMATCH -MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18287 LEXMATCH -MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613340 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10883 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613341 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:791 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013231 LEXMATCH -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613341 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613342 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931420 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2619 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:960 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disease LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013232 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013232 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613342 LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2619 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613343 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99642 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10741 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013233 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013233 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613343 LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99642 LEXMATCH -MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613345 LEXMATCH -MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15649 LEXMATCH -MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613345 LEXMATCH -MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613347 LEXMATCH -MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15650 LEXMATCH -MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613347 LEXMATCH -MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613348 LEXMATCH -MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15651 LEXMATCH -MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613348 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613355 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261279 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10936 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013238 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013238 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613355 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261279 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613364 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320355 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17471 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013239 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013239 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613364 LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320355 LEXMATCH -MONDO:0013240 maturity-onset diabetes of the young type 10 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613370 LEXMATCH -MONDO:0013240 maturity-onset diabetes of the young type 10 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15652 LEXMATCH -MONDO:0013240 maturity-onset diabetes of the young type 10 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613370 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613371 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936793 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:211017 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4950 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013241 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013241 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613371 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:211017 LEXMATCH -MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613375 LEXMATCH -MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15653 LEXMATCH -MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613375 LEXMATCH -MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613375 LEXMATCH -MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613375 LEXMATCH -MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613376 LEXMATCH -MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18264 LEXMATCH -MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613376 LEXMATCH -MONDO:0013244 brachydactyly type E2 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613382 LEXMATCH -MONDO:0013244 brachydactyly type E2 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15654 LEXMATCH -MONDO:0013244 brachydactyly type E2 skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613382 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613385 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228426 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10775 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613385 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013245 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013245 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613385 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228426 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613385 LEXMATCH -MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613388 LEXMATCH -MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15655 LEXMATCH -MONDO:0013247 Fanconi renotubular syndrome 2 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613388 LEXMATCH -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613390 LEXMATCH -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15656 LEXMATCH -MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613390 LEXMATCH -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613391 LEXMATCH -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22634 LEXMATCH -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613391 LEXMATCH -MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613392 LEXMATCH -MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22635 LEXMATCH -MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613392 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613398 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280558 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13708 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613398 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013252 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013252 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613398 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280558 LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613398 LEXMATCH -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 LEXMATCH -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15657 LEXMATCH -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613399 LEXMATCH -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 LEXMATCH -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613399 LEXMATCH -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613402 LEXMATCH -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10933 LEXMATCH -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613402 LEXMATCH -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613402 LEXMATCH -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613402 LEXMATCH -MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613404 LEXMATCH -MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15658 LEXMATCH -MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613404 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613406 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94065 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12219 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013256 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013256 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613406 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94065 LEXMATCH -MONDO:0013257 leprosy, susceptibility to, 6 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613407 LEXMATCH -MONDO:0013257 leprosy, susceptibility to, 6 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15659 LEXMATCH -MONDO:0013257 leprosy, susceptibility to, 6 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613407 LEXMATCH -MONDO:0013259 Oguchi disease-2 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613411 LEXMATCH -MONDO:0013259 Oguchi disease-2 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15660 LEXMATCH -MONDO:0013259 Oguchi disease-2 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613411 LEXMATCH -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 LEXMATCH -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15661 LEXMATCH -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613424 LEXMATCH -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 LEXMATCH -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613424 LEXMATCH -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 LEXMATCH -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12832 LEXMATCH -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613426 LEXMATCH -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 LEXMATCH -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613426 LEXMATCH -MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613428 LEXMATCH -MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15662 LEXMATCH -MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613428 LEXMATCH -MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613435 LEXMATCH -MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15663 LEXMATCH -MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613435 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228384 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013266 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261222 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17244 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013267 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013267 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613444 LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261222 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228390 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12641 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613451 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013268 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013268 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613451 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228390 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613451 LEXMATCH -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613453 LEXMATCH -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22636 LEXMATCH -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613453 LEXMATCH -MONDO:0013270 Rett syndrome, congenital variant skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613454 LEXMATCH -MONDO:0013270 Rett syndrome, congenital variant skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15664 LEXMATCH -MONDO:0013270 Rett syndrome, congenital variant skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613454 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306542 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12640 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613456 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013271 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013271 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613456 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306542 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613456 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613457 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261120 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17241 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013272 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013272 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613457 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261120 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613458 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96078 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10755 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013273 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013273 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613458 LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96078 LEXMATCH -MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613464 LEXMATCH -MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15665 LEXMATCH -MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613464 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613470 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:712 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16541 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613470 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013275 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013275 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613470 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:712 LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613470 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613471 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748397 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:779 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4697 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013276 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013276 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613471 LEXMATCH -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:779 LEXMATCH -MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613477 LEXMATCH -MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12949 LEXMATCH -MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613477 LEXMATCH -MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613477 LEXMATCH -MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613477 LEXMATCH -MONDO:0013278 lymphatic malformation 3 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613480 LEXMATCH -MONDO:0013278 lymphatic malformation 3 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16456 LEXMATCH -MONDO:0013278 lymphatic malformation 3 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613480 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15666 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013279 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613485 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 LEXMATCH -MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613485 LEXMATCH -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 LEXMATCH -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613488 LEXMATCH -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 LEXMATCH -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 LEXMATCH -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15667 LEXMATCH -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613488 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613489 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263501 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12412 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013281 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013281 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613489 LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263501 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001806 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613490 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5784 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013282 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013282 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613490 LEXMATCH -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60 LEXMATCH -MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613493 LEXMATCH -MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15668 LEXMATCH -MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613493 LEXMATCH -MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613494 LEXMATCH -MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15669 LEXMATCH -MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613494 LEXMATCH -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613495 LEXMATCH -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15670 LEXMATCH -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613495 LEXMATCH -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613495 LEXMATCH -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613495 LEXMATCH -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613496 LEXMATCH -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15671 LEXMATCH -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613496 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15672 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613500 LEXMATCH -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613500 LEXMATCH -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 LEXMATCH -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613501 LEXMATCH -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 LEXMATCH -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15673 LEXMATCH -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613501 LEXMATCH -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 LEXMATCH -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613502 LEXMATCH -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 LEXMATCH -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15674 LEXMATCH -MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613502 LEXMATCH -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 LEXMATCH -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613506 LEXMATCH -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 LEXMATCH -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15675 LEXMATCH -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613506 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613507 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263297 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17254 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013291 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013291 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613507 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263297 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613509 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238750 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17181 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613509 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013292 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013292 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613509 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238750 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613509 LEXMATCH -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 LEXMATCH -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613517 LEXMATCH -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 LEXMATCH -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18628 LEXMATCH -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613517 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613523 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168953 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17043 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with fgfr1 rearrangement LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013296 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013296 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613523 LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168953 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613533 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217340 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17121 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013298 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013298 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613533 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217340 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613545 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141276 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16975 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013300 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013300 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613545 LEXMATCH -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141276 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613546 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960539 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:365 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013301 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013301 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613546 LEXMATCH -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91 LEXMATCH -MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613550 LEXMATCH -MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18080 LEXMATCH -MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613550 LEXMATCH -MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613550 LEXMATCH -MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613550 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264040 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166081 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17020 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013304 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013304 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166081 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613554 LEXMATCH -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613558 LEXMATCH -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18133 LEXMATCH -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613558 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613559 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254930 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17234 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013306 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013306 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613559 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254930 LEXMATCH -MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613561 LEXMATCH -MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15676 LEXMATCH -MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613561 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363972 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17577 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013308 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013308 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613563 LEXMATCH -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363972 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613571 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95699 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12664 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013310 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013310 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613571 LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95699 LEXMATCH -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247820 LEXMATCH -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17198 LEXMATCH -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013311 LEXMATCH -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013311 LEXMATCH -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247820 LEXMATCH -MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613575 LEXMATCH -MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15677 LEXMATCH -MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613575 LEXMATCH -MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613575 LEXMATCH -MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613575 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613576 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247827 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17199 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013313 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013313 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613576 LEXMATCH -MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247827 LEXMATCH -MONDO:0013314 retinitis pigmentosa 56 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613581 LEXMATCH -MONDO:0013314 retinitis pigmentosa 56 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15678 LEXMATCH -MONDO:0013314 retinitis pigmentosa 56 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613581 LEXMATCH -MONDO:0013315 retinitis pigmentosa 57 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613582 LEXMATCH -MONDO:0013315 retinitis pigmentosa 57 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15679 LEXMATCH -MONDO:0013315 retinitis pigmentosa 57 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613582 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613587 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247834 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17200 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613587 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013316 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013316 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613587 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247834 LEXMATCH -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613587 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613600 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51084 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16651 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013317 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013317 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613600 LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51084 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613604 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261211 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17243 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013320 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013320 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613604 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261211 LEXMATCH -MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613608 LEXMATCH -MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18084 LEXMATCH -MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613608 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15680 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613610 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613610 LEXMATCH -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613610 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613611 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99141 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16898 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013324 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013324 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613611 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99141 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613612 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263487 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12348 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613612 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013325 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013325 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613612 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263487 LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613612 LEXMATCH -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613615 LEXMATCH -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15681 LEXMATCH -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613615 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93600 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10738 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013327 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013327 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613616 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93600 LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613616 LEXMATCH -MONDO:0013328 retinitis pigmentosa 58 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613617 LEXMATCH -MONDO:0013328 retinitis pigmentosa 58 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15682 LEXMATCH -MONDO:0013328 retinitis pigmentosa 58 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613617 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613618 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238578 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17177 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013329 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013329 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613618 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238578 LEXMATCH -MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613625 LEXMATCH -MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18632 LEXMATCH -MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613625 LEXMATCH -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613630 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:465824 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17823 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613630 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013334 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013334 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613630 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:465824 LEXMATCH -MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613630 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613638 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357001 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17542 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 19p13.13 microdeletion syndrome LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013336 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013336 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613638 LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357001 LEXMATCH -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613640 LEXMATCH -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15683 LEXMATCH -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613640 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613641 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254334 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12454 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013338 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013338 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613641 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254334 LEXMATCH -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613642 LEXMATCH -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15684 LEXMATCH -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613642 LEXMATCH -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613642 LEXMATCH -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613642 LEXMATCH -MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613643 LEXMATCH -MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18609 LEXMATCH -MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613643 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613646 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280183 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16481 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013341 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013341 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613646 LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280183 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613647 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306511 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17378 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013342 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013342 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613647 LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306511 LEXMATCH -MONDO:0013343 C1Q deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613652 LEXMATCH -MONDO:0013343 C1Q deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12958 LEXMATCH -MONDO:0013343 C1Q deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613652 LEXMATCH -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613657 LEXMATCH -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15685 LEXMATCH -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613657 LEXMATCH -MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 LEXMATCH -MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15686 LEXMATCH -MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613660 LEXMATCH -MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 LEXMATCH -MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613660 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613661 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280071 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12396 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613661 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013349 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013349 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613661 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280071 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613661 LEXMATCH -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613662 LEXMATCH -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:298 LEXMATCH -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013350 LEXMATCH -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613662 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613668 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402364 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10995 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013351 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013351 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613668 LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402364 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613670 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391372 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12501 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013352 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013352 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613670 LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391372 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613671 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562559 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17997 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013353 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013353 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613671 LEXMATCH -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562559 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613672 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254343 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10992 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013354 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013354 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613672 LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254343 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293825 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17344 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613673 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013355 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013355 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613673 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293825 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613673 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613673 LEXMATCH -MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613674 LEXMATCH -MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18420 LEXMATCH -MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613674 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137634 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18646 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013357 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013357 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137634 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139474 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013357 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97685 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5408 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013357 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013357 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613675 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97685 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613675 LEXMATCH -MONDO:0013358 Seckel syndrome 4 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613676 LEXMATCH -MONDO:0013358 Seckel syndrome 4 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15687 LEXMATCH -MONDO:0013358 Seckel syndrome 4 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613676 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613677 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251274 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12362 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013359 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013359 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613677 LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251274 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613678 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93302 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16816 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013360 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013360 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613678 LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93302 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613679 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2926 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital factor ii deficiency LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013361 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013361 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613679 LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613680 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363444 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17558 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613680 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013362 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013362 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613680 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363444 LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613680 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613681 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15688 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613681 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294026 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21175 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013363 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013363 LEXMATCH -MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294026 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353284 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17535 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013364 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013364 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613684 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353284 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613684 LEXMATCH -MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613685 LEXMATCH -MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22637 LEXMATCH -MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613685 LEXMATCH -MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 LEXMATCH -MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4976 LEXMATCH -MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613686 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3285 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013367 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613688 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 LEXMATCH -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613688 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613689 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238744 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17180 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613689 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013368 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013368 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613689 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238744 LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613689 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10434 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013370 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613693 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 LEXMATCH -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613693 LEXMATCH -MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613694 LEXMATCH -MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15689 LEXMATCH -MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613694 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10433 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013372 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613695 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 LEXMATCH -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613695 LEXMATCH -MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613697 LEXMATCH -MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15690 LEXMATCH -MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613697 LEXMATCH -MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613702 LEXMATCH -MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15691 LEXMATCH -MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613702 LEXMATCH -MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613703 LEXMATCH -MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15692 LEXMATCH -MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613703 LEXMATCH -MONDO:0013377 isolated microphthalmia 7 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613704 LEXMATCH -MONDO:0013377 isolated microphthalmia 7 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613704 LEXMATCH -MONDO:0013378 orofacial cleft 10 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613705 LEXMATCH -MONDO:0013378 orofacial cleft 10 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18306 LEXMATCH -MONDO:0013378 orofacial cleft 10 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613705 LEXMATCH -MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613706 LEXMATCH -MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15693 LEXMATCH -MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613706 LEXMATCH -MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613707 LEXMATCH -MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15694 LEXMATCH -MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613707 LEXMATCH -MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613708 LEXMATCH -MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15695 LEXMATCH -MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613708 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613710 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217396 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17123 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013382 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013382 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613710 LEXMATCH -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217396 LEXMATCH -MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613711 LEXMATCH -MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15696 LEXMATCH -MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613711 LEXMATCH -MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613712 LEXMATCH -MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15697 LEXMATCH -MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613712 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613717 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15698 LEXMATCH -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613717 LEXMATCH -MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613718 LEXMATCH -MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22638 LEXMATCH -MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613718 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613720 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439218 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13060 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613720 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013387 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013387 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613720 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439218 LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613720 LEXMATCH -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613721 LEXMATCH -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15699 LEXMATCH -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613721 LEXMATCH -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613721 LEXMATCH -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613721 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13318 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13318 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613722 LEXMATCH -MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613722 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613723 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254361 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12542 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2q LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013390 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013390 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613723 LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254361 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613724 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163684 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12471 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013391 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013391 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613724 LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163684 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613728 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284289 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17314 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset autosomal recessive cerebellar ataxia LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013392 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013392 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613728 LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284289 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613729 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254351 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17218 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013393 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013393 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613729 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254351 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613730 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306547 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17380 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013394 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013394 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613730 LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306547 LEXMATCH -MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613731 LEXMATCH -MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10405 LEXMATCH -MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613731 LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401986 LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17668 LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013396 LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013396 LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401986 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613743 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168558 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17033 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013400 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013400 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613743 LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168558 LEXMATCH -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613744 LEXMATCH -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13737 LEXMATCH -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613744 LEXMATCH -MONDO:0013402 retinitis pigmentosa 27 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613750 LEXMATCH -MONDO:0013402 retinitis pigmentosa 27 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15700 LEXMATCH -MONDO:0013402 retinitis pigmentosa 27 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613750 LEXMATCH -MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613751 LEXMATCH -MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613751 LEXMATCH -MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613751 LEXMATCH -MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613751 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613752 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151058 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88618 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13177 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013404 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013404 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613752 LEXMATCH -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88618 LEXMATCH -MONDO:0013405 retinitis pigmentosa 49 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613756 LEXMATCH -MONDO:0013405 retinitis pigmentosa 49 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15701 LEXMATCH -MONDO:0013405 retinitis pigmentosa 49 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613756 LEXMATCH -MONDO:0013407 retinitis pigmentosa 47 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613758 LEXMATCH -MONDO:0013407 retinitis pigmentosa 47 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15702 LEXMATCH -MONDO:0013407 retinitis pigmentosa 47 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613758 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613759 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306550 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15004 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013408 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013408 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613759 LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306550 LEXMATCH -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 LEXMATCH -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15703 LEXMATCH -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613762 LEXMATCH -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 LEXMATCH -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15703 LEXMATCH -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613762 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613763 LEXMATCH -MONDO:0013413 retinitis pigmentosa 45 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613767 LEXMATCH -MONDO:0013413 retinitis pigmentosa 45 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15704 LEXMATCH -MONDO:0013413 retinitis pigmentosa 45 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613767 LEXMATCH -MONDO:0013414 retinitis pigmentosa 44 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613769 LEXMATCH -MONDO:0013414 retinitis pigmentosa 44 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15705 LEXMATCH -MONDO:0013414 retinitis pigmentosa 44 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613769 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613779 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280133 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16489 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013417 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013417 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613779 LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280133 LEXMATCH -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613780 LEXMATCH -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15706 LEXMATCH -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613780 LEXMATCH -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613780 LEXMATCH -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613780 LEXMATCH -MONDO:0013419 complement component C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613783 LEXMATCH -MONDO:0013419 complement component C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15707 LEXMATCH -MONDO:0013419 complement component C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613783 LEXMATCH -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613789 LEXMATCH -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10625 LEXMATCH -MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613789 LEXMATCH -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613790 LEXMATCH -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10626 LEXMATCH -MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613790 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613791 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151085 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331187 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17512 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013423 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013423 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613791 LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331187 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613792 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1620 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3750 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013424 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013424 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613792 LEXMATCH -MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1620 LEXMATCH -MONDO:0013425 retinitis pigmentosa 20 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613794 LEXMATCH -MONDO:0013425 retinitis pigmentosa 20 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10404 LEXMATCH -MONDO:0013425 retinitis pigmentosa 20 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613794 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284984 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10997 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013426 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013426 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613795 LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284984 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613796 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391311 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17612 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013427 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013427 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613796 LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391311 LEXMATCH -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 LEXMATCH -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15708 LEXMATCH -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613800 LEXMATCH -MONDO:0013429 retinitis pigmentosa 40 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613801 LEXMATCH -MONDO:0013429 retinitis pigmentosa 40 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15709 LEXMATCH -MONDO:0013429 retinitis pigmentosa 40 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613801 LEXMATCH -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613803 LEXMATCH -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15710 LEXMATCH -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613803 LEXMATCH -MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613804 LEXMATCH -MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15711 LEXMATCH -MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613804 LEXMATCH -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613805 LEXMATCH -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15712 LEXMATCH -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613805 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613806 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1280 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013433 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013433 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613806 LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171 LEXMATCH -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 LEXMATCH -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15713 LEXMATCH -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613807 LEXMATCH -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 LEXMATCH -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15714 LEXMATCH -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613808 LEXMATCH -MONDO:0013436 retinitis pigmentosa 39 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613809 LEXMATCH -MONDO:0013436 retinitis pigmentosa 39 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15715 LEXMATCH -MONDO:0013436 retinitis pigmentosa 39 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613809 LEXMATCH -MONDO:0013437 retinitis pigmentosa 43 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613810 LEXMATCH -MONDO:0013437 retinitis pigmentosa 43 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15716 LEXMATCH -MONDO:0013437 retinitis pigmentosa 43 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613810 LEXMATCH -MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613811 LEXMATCH -MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15717 LEXMATCH -MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613811 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613812 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151147 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79302 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16713 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013439 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013439 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613812 LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79302 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613818 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280333 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12541 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2p LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013440 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013440 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613818 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280333 LEXMATCH -MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613819 LEXMATCH -MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15718 LEXMATCH -MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613819 LEXMATCH -MONDO:0013442 nephronophthisis 12 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613820 LEXMATCH -MONDO:0013442 nephronophthisis 12 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613820 LEXMATCH -MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613823 LEXMATCH -MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15719 LEXMATCH -MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613823 LEXMATCH -MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613823 LEXMATCH -MONDO:0013443 Seckel syndrome 5 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613823 LEXMATCH -MONDO:0013444 nephronophthisis 9 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613824 LEXMATCH -MONDO:0013444 nephronophthisis 9 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613824 LEXMATCH -MONDO:0013445 complement component 9 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613825 LEXMATCH -MONDO:0013445 complement component 9 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18292 LEXMATCH -MONDO:0013445 complement component 9 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613825 LEXMATCH -MONDO:0013446 Leber congenital amaurosis 6 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613826 LEXMATCH -MONDO:0013446 Leber congenital amaurosis 6 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10490 LEXMATCH -MONDO:0013446 Leber congenital amaurosis 6 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613826 LEXMATCH -MONDO:0013447 retinitis pigmentosa 48 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613827 LEXMATCH -MONDO:0013447 retinitis pigmentosa 48 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15720 LEXMATCH -MONDO:0013447 retinitis pigmentosa 48 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613827 LEXMATCH -MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613828 LEXMATCH -MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18664 LEXMATCH -MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613828 LEXMATCH -MONDO:0013449 Leber congenital amaurosis 7 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613829 LEXMATCH -MONDO:0013449 Leber congenital amaurosis 7 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10880 LEXMATCH -MONDO:0013449 Leber congenital amaurosis 7 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613829 LEXMATCH -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613830 LEXMATCH -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15721 LEXMATCH -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613830 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613834 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404463 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12811 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613834 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013452 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013452 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613834 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404463 LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613834 LEXMATCH -MONDO:0013453 Leber congenital amaurosis 8 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613835 LEXMATCH -MONDO:0013453 Leber congenital amaurosis 8 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10881 LEXMATCH -MONDO:0013453 Leber congenital amaurosis 8 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613835 LEXMATCH -MONDO:0013454 Leber congenital amaurosis 11 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613837 LEXMATCH -MONDO:0013454 Leber congenital amaurosis 11 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10488 LEXMATCH -MONDO:0013454 Leber congenital amaurosis 11 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613837 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613839 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319651 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11000 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013456 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013456 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613839 LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319651 LEXMATCH -MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613843 LEXMATCH -MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10884 LEXMATCH -MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613843 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613845 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363694 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17569 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613845 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013458 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013458 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613845 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363694 LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613845 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12874 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013459 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613848 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 LEXMATCH -MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613848 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15722 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013460 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613849 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 LEXMATCH -MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613849 LEXMATCH -MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613854 LEXMATCH -MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613854 LEXMATCH -MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613854 LEXMATCH -MONDO:0013463 congenital heart defects, multiple types, 6 skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613854 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613855 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866039 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:211067 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17113 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013464 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013464 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613855 LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:211067 LEXMATCH -MONDO:0013465 achromatopsia 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613856 LEXMATCH -MONDO:0013465 achromatopsia 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15723 LEXMATCH -MONDO:0013465 achromatopsia 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613856 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613860 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331190 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17513 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013467 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013467 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613860 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331190 LEXMATCH -MONDO:0013468 retinitis pigmentosa 59 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613861 LEXMATCH -MONDO:0013468 retinitis pigmentosa 59 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15724 LEXMATCH -MONDO:0013468 retinitis pigmentosa 59 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613861 LEXMATCH -MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613862 LEXMATCH -MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15725 LEXMATCH -MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613862 LEXMATCH -MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613863 LEXMATCH -MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18665 LEXMATCH -MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613863 LEXMATCH -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613865 LEXMATCH -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22639 LEXMATCH -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613865 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613869 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280553 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17296 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013472 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013472 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613869 LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280553 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613877 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280356 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12601 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013478 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013478 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613877 LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280356 LEXMATCH -MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613881 LEXMATCH -MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15726 LEXMATCH -MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613881 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613884 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1587 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16570 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy 13q14 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013481 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013481 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613884 LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1587 LEXMATCH -MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613885 LEXMATCH -MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15727 LEXMATCH -MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613885 LEXMATCH -MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90674 LEXMATCH -MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013482 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613908 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276193 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12366 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013485 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013485 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613908 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276193 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613909 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276183 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17276 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013486 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013486 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613909 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276183 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613912 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398764 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169467 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17055 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013487 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013487 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613912 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169467 LEXMATCH -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613916 LEXMATCH -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22640 LEXMATCH -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613916 LEXMATCH -MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613925 LEXMATCH -MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15728 LEXMATCH -MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613925 LEXMATCH -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 LEXMATCH -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15729 LEXMATCH -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613926 LEXMATCH -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 LEXMATCH -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15729 LEXMATCH -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613926 LEXMATCH -MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 LEXMATCH -MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15730 LEXMATCH -MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613930 LEXMATCH -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613943 LEXMATCH -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16457 LEXMATCH -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613943 LEXMATCH -MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613951 LEXMATCH -MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15731 LEXMATCH -MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613951 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1334 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15732 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013500 LEXMATCH -MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613953 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15733 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15733 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613954 LEXMATCH -MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613954 LEXMATCH -MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 LEXMATCH -MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18638 LEXMATCH -MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613955 LEXMATCH -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613956 LEXMATCH -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15093 LEXMATCH -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613956 LEXMATCH -MONDO:0013504 spermatogenic failure 8 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613957 LEXMATCH -MONDO:0013504 spermatogenic failure 8 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15734 LEXMATCH -MONDO:0013504 spermatogenic failure 8 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613957 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15735 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613958 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613958 LEXMATCH -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613960 LEXMATCH -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15736 LEXMATCH -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613960 LEXMATCH -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613960 LEXMATCH -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613960 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613970 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12851 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613970 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613970 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613970 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613970 LEXMATCH -MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613970 LEXMATCH -MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613972 LEXMATCH -MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18580 LEXMATCH -MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613972 LEXMATCH -MONDO:0013511 cyanosis, transient neonatal skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613977 LEXMATCH -MONDO:0013511 cyanosis, transient neonatal skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613977 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063435 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613978 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161174 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93616 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16829 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disease LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013512 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013512 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613978 LEXMATCH -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93616 LEXMATCH -MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613980 LEXMATCH -MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15737 LEXMATCH -MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613980 LEXMATCH -MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613981 LEXMATCH -MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18094 LEXMATCH -MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613981 LEXMATCH -MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613981 LEXMATCH -MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613981 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8700 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013515 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613982 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8700 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013515 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613982 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 LEXMATCH -MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613982 LEXMATCH -MONDO:0013516 retinitis pigmentosa 60 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613983 LEXMATCH -MONDO:0013516 retinitis pigmentosa 60 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15738 LEXMATCH -MONDO:0013516 retinitis pigmentosa 60 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613983 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613985 LEXMATCH -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613985 LEXMATCH -MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613986 LEXMATCH -MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16520 LEXMATCH -MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613986 LEXMATCH -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613987 LEXMATCH -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15739 LEXMATCH -MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613987 LEXMATCH -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613988 LEXMATCH -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15740 LEXMATCH -MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613988 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15741 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613989 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3322 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15741 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013521 LEXMATCH -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613989 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15742 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613990 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3322 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15742 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013522 LEXMATCH -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613990 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614008 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280576 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11008 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013523 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013523 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614008 LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280576 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614009 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220443 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17132 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013524 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013524 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614009 LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220443 LEXMATCH -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614017 LEXMATCH -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15743 LEXMATCH -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614017 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614018 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280620 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3872 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013526 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013526 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614018 LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280620 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614019 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614019 LEXMATCH -MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614019 LEXMATCH -MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 LEXMATCH -MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22549 LEXMATCH -MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614020 LEXMATCH -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614021 LEXMATCH -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15744 LEXMATCH -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614021 LEXMATCH -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614021 LEXMATCH -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614021 LEXMATCH -MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614022 LEXMATCH -MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15745 LEXMATCH -MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614022 LEXMATCH -MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614022 LEXMATCH -MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614022 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614023 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79350 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16717 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013531 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013531 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614023 LEXMATCH -MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79350 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614025 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140905 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12864 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia due to hepatic triacylglycerol lipase deficiency LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013533 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013533 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614025 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140905 LEXMATCH -MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18076 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614034 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562509 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17995 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013536 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013536 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614034 LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562509 LEXMATCH -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614035 LEXMATCH -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22641 LEXMATCH -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614035 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614037 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279662 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79507 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16725 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013539 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013539 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614037 LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79507 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614038 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3226 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13030 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013540 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013540 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614038 LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3226 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614039 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300570 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13032 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013541 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013541 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614039 LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300570 LEXMATCH -MONDO:0013542 Moyamoya disease 5 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614042 LEXMATCH -MONDO:0013542 Moyamoya disease 5 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15746 LEXMATCH -MONDO:0013542 Moyamoya disease 5 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614042 LEXMATCH -MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614049 LEXMATCH -MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15747 LEXMATCH -MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614049 LEXMATCH -MONDO:0013545 atrial fibrillation, familial, 12 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614050 LEXMATCH -MONDO:0013545 atrial fibrillation, familial, 12 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15748 LEXMATCH -MONDO:0013545 atrial fibrillation, familial, 12 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614050 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614052 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1194 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16561 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614052 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tmem70-related mitochondrial encephalo-cardio-myopathy LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013546 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013546 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614052 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1194 LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:closeMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614052 LEXMATCH -MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614053 LEXMATCH -MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18666 LEXMATCH -MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614053 LEXMATCH -MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614053 LEXMATCH -MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614053 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63273 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16666 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013550 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013550 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614065 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63273 LEXMATCH -MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614066 LEXMATCH -MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15749 LEXMATCH -MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614066 LEXMATCH -MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614066 LEXMATCH -MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614066 LEXMATCH -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614067 LEXMATCH -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15750 LEXMATCH -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614067 LEXMATCH -MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614069 LEXMATCH -MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15751 LEXMATCH -MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614069 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18333 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614072 LEXMATCH -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614072 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18332 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614073 LEXMATCH -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614073 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18334 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614074 LEXMATCH -MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614074 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18335 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614075 LEXMATCH -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614075 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231531 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18336 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17170 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013559 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013559 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614076 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231531 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 LEXMATCH -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614076 LEXMATCH -MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 LEXMATCH -MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18337 LEXMATCH -MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614077 LEXMATCH -MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 LEXMATCH -MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614077 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280586 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11009 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013561 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013561 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614078 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280586 LEXMATCH -MONDO:0013562 aspergillosis, susceptibility to skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614079 LEXMATCH -MONDO:0013562 aspergillosis, susceptibility to skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15752 LEXMATCH -MONDO:0013562 aspergillosis, susceptibility to skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614079 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614080 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280633 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12781 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013563 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013563 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614080 LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280633 LEXMATCH -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614082 LEXMATCH -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15753 LEXMATCH -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614082 LEXMATCH -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614083 LEXMATCH -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15754 LEXMATCH -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614083 LEXMATCH -MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 LEXMATCH -MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614089 LEXMATCH -MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 LEXMATCH -MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15755 LEXMATCH -MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614089 LEXMATCH -MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614090 LEXMATCH -MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18285 LEXMATCH -MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614090 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498497 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17919 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013569 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013569 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498497 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15756 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614091 LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614091 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614096 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319504 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17452 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013570 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013570 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614096 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319504 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614097 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268419 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:926 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:363 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013571 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013571 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614097 LEXMATCH -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:926 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435628 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17716 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013572 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013572 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614098 LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435628 LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614099 LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15757 LEXMATCH -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614099 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614100 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432335 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171719 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17069 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013574 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013574 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614100 LEXMATCH -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171719 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614102 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279824 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183675 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17086 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective igg subclass deficiency LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013576 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013576 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614102 LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183675 LEXMATCH -MONDO:0013577 Lipedema skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614104 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464306 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13527 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013578 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013578 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614104 LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464306 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614105 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279840 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289307 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17322 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614105 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013579 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013579 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614105 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289307 LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614105 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279841 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255138 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17236 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013580 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013580 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255138 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614111 LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614111 LEXMATCH -MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614113 LEXMATCH -MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16458 LEXMATCH -MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614113 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614114 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15758 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614114 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614114 LEXMATCH -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614114 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614115 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280640 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17299 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013583 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013583 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614115 LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280640 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614116 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:456318 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11927 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013584 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013584 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614116 LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:456318 LEXMATCH -MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614120 LEXMATCH -MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15759 LEXMATCH -MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614120 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614128 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279904 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284435 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3161 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013587 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013587 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614128 LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284435 LEXMATCH -MONDO:0013588 Perrault syndrome 3 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614129 LEXMATCH -MONDO:0013588 Perrault syndrome 3 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15760 LEXMATCH -MONDO:0013588 Perrault syndrome 3 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614129 LEXMATCH -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614131 LEXMATCH -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:656 LEXMATCH -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15761 LEXMATCH -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013589 LEXMATCH -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614131 LEXMATCH -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 LEXMATCH -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18358 LEXMATCH -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614134 LEXMATCH -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 LEXMATCH -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614134 LEXMATCH -MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614135 LEXMATCH -MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13376 LEXMATCH -MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614135 LEXMATCH -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 LEXMATCH -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614149 LEXMATCH -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 LEXMATCH -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15762 LEXMATCH -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614149 LEXMATCH -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614152 LEXMATCH -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18134 LEXMATCH -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614152 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614153 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276198 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12367 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013594 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013594 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614153 LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276198 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614156 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276405 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17279 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013595 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013595 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614156 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276405 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391487 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12314 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614162 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013599 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013599 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614162 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391487 LEXMATCH -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614162 LEXMATCH -MONDO:0013602 paragangliomas 5 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614165 LEXMATCH -MONDO:0013602 paragangliomas 5 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15763 LEXMATCH -MONDO:0013602 paragangliomas 5 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614165 LEXMATCH -MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614170 LEXMATCH -MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15764 LEXMATCH -MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614170 LEXMATCH -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 LEXMATCH -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18338 LEXMATCH -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614171 LEXMATCH -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 LEXMATCH -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614171 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228423 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10934 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013607 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013607 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614172 LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228423 LEXMATCH -MONDO:0013608 Joubert syndrome 13 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614173 LEXMATCH -MONDO:0013608 Joubert syndrome 13 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15765 LEXMATCH -MONDO:0013608 Joubert syndrome 13 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614173 LEXMATCH -MONDO:0013610 retinitis pigmentosa 61 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614180 LEXMATCH -MONDO:0013610 retinitis pigmentosa 61 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15766 LEXMATCH -MONDO:0013610 retinitis pigmentosa 61 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614180 LEXMATCH -MONDO:0013611 retinitis pigmentosa 62 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614181 LEXMATCH -MONDO:0013611 retinitis pigmentosa 62 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15767 LEXMATCH -MONDO:0013611 retinitis pigmentosa 62 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614181 LEXMATCH -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614185 LEXMATCH -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15768 LEXMATCH -MONDO:0013612 geleophysic dysplasia 2 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614185 LEXMATCH -MONDO:0013613 Leber congenital amaurosis 16 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614186 LEXMATCH -MONDO:0013613 Leber congenital amaurosis 16 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10885 LEXMATCH -MONDO:0013613 Leber congenital amaurosis 16 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614186 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614187 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293958 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17351 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013614 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013614 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614187 LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293958 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614188 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284149 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17309 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis-dental anomalies LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013615 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013615 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614188 LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284149 LEXMATCH -MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614196 LEXMATCH -MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15770 LEXMATCH -MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614196 LEXMATCH -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 LEXMATCH -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614198 LEXMATCH -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 LEXMATCH -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15771 LEXMATCH -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614198 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614200 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98886 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16868 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to integrin alpha2-beta1 deficiency LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013622 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013622 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614200 LEXMATCH -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98886 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614201 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98885 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13293 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to glycoprotein vi deficiency LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013623 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013623 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614201 LEXMATCH -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98885 LEXMATCH -MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614202 LEXMATCH -MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22550 LEXMATCH -MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614202 LEXMATCH -MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614202 LEXMATCH -MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614202 LEXMATCH -MONDO:0013625 Parkinson disease 17 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614203 LEXMATCH -MONDO:0013625 Parkinson disease 17 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18478 LEXMATCH -MONDO:0013625 Parkinson disease 17 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614203 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163931 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20052 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013626 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013626 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163931 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247353 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12819 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pustular psoriasis LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013626 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013626 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247353 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404546 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17679 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013626 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013626 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404546 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0013627 3M syndrome 3 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614205 LEXMATCH -MONDO:0013627 3M syndrome 3 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15772 LEXMATCH -MONDO:0013627 3M syndrome 3 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614205 LEXMATCH -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 LEXMATCH -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18350 LEXMATCH -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614207 LEXMATCH -MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 LEXMATCH -MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22551 LEXMATCH -MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614208 LEXMATCH -MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614209 LEXMATCH -MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15773 LEXMATCH -MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614209 LEXMATCH -MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614211 LEXMATCH -MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18135 LEXMATCH -MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614211 LEXMATCH -MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614212 LEXMATCH -MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18384 LEXMATCH -MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614212 LEXMATCH -MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614213 LEXMATCH -MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15774 LEXMATCH -MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614213 LEXMATCH -MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614219 LEXMATCH -MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15775 LEXMATCH -MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614219 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15776 LEXMATCH -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614220 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614221 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15777 LEXMATCH -MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614221 LEXMATCH -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614222 LEXMATCH -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15778 LEXMATCH -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614222 LEXMATCH -MONDO:0013639 narcolepsy 6, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614223 LEXMATCH -MONDO:0013639 narcolepsy 6, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15779 LEXMATCH -MONDO:0013639 narcolepsy 6, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614223 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614224 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284247 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12779 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013640 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013640 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614224 LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284247 LEXMATCH -MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614225 LEXMATCH -MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15780 LEXMATCH -MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614225 LEXMATCH -MONDO:0013642 holoprosencephaly 11 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614226 LEXMATCH -MONDO:0013642 holoprosencephaly 11 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614226 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614228 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284232 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12434 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013644 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013644 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614228 LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284232 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614229 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284271 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17312 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013645 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013645 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614229 LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284271 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614230 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284160 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17310 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614230 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013646 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013646 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614230 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284160 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614230 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614233 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79146 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18074 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16706 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013648 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013648 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614233 LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79146 LEXMATCH -MONDO:0013649 hypotrichosis 9 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614237 LEXMATCH -MONDO:0013649 hypotrichosis 9 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15781 LEXMATCH -MONDO:0013649 hypotrichosis 9 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614237 LEXMATCH -MONDO:0013650 hypotrichosis 10 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614238 LEXMATCH -MONDO:0013650 hypotrichosis 10 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15782 LEXMATCH -MONDO:0013650 hypotrichosis 10 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614238 LEXMATCH -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 LEXMATCH -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22552 LEXMATCH -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614249 LEXMATCH -MONDO:0013652 narcolepsy 7 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614250 LEXMATCH -MONDO:0013652 narcolepsy 7 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15783 LEXMATCH -MONDO:0013652 narcolepsy 7 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614250 LEXMATCH -MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614251 LEXMATCH -MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18479 LEXMATCH -MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614251 LEXMATCH -MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 LEXMATCH -MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18329 LEXMATCH -MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614252 LEXMATCH -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614254 LEXMATCH -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13686 LEXMATCH -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614254 LEXMATCH -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614254 LEXMATCH -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614254 LEXMATCH -MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614255 LEXMATCH -MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16459 LEXMATCH -MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614255 LEXMATCH -MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614255 LEXMATCH -MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614255 LEXMATCH -MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614256 LEXMATCH -MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16460 LEXMATCH -MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614256 LEXMATCH -MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614257 LEXMATCH -MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16461 LEXMATCH -MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614257 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614261 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294016 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17354 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614261 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013659 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013659 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614261 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294016 LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614261 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614265 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280314 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289504 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10818 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013661 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013661 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614265 LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289504 LEXMATCH -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 LEXMATCH -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 LEXMATCH -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99976 LEXMATCH -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013662 LEXMATCH -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614266 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614279 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839840 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443087 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17752 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614279 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013664 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013664 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614279 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443087 LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614279 LEXMATCH -MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614280 LEXMATCH -MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15784 LEXMATCH -MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614280 LEXMATCH -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 LEXMATCH -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18359 LEXMATCH -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614284 LEXMATCH -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 LEXMATCH -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614284 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614290 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795868 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3307 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:35 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013668 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013668 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614290 LEXMATCH -MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3307 LEXMATCH -MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614291 LEXMATCH -MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15785 LEXMATCH -MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch Orphanet:145 Hereditary breast and/or ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614291 LEXMATCH -MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614292 LEXMATCH -MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18197 LEXMATCH -MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614292 LEXMATCH -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 LEXMATCH -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18366 LEXMATCH -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614293 LEXMATCH -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 LEXMATCH -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614293 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614296 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280358 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411590 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17683 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013673 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013673 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614296 LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411590 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614298 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289560 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12569 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial membrane protein-associated neurodegeneration LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013674 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013674 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614298 LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289560 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614299 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401874 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17662 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614299 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013675 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013675 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614299 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401874 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614299 LEXMATCH -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 LEXMATCH -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614302 LEXMATCH -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 LEXMATCH -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18208 LEXMATCH -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614302 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614303 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280392 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293936 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17349 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013678 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013678 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614303 LEXMATCH -MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293936 LEXMATCH -MONDO:0013679 sclerosteosis 2 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614305 LEXMATCH -MONDO:0013679 sclerosteosis 2 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15786 LEXMATCH -MONDO:0013679 sclerosteosis 2 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614305 LEXMATCH -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614307 LEXMATCH -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280428 LEXMATCH -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15787 LEXMATCH -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614307 LEXMATCH -MONDO:0013682 vesicoureteral reflux 4 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614317 LEXMATCH -MONDO:0013682 vesicoureteral reflux 4 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18421 LEXMATCH -MONDO:0013682 vesicoureteral reflux 4 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614317 LEXMATCH -MONDO:0013683 vesicoureteral reflux 5 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614318 LEXMATCH -MONDO:0013683 vesicoureteral reflux 5 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18422 LEXMATCH -MONDO:0013683 vesicoureteral reflux 5 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614318 LEXMATCH -MONDO:0013684 vesicoureteral reflux 6 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614319 LEXMATCH -MONDO:0013684 vesicoureteral reflux 6 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18423 LEXMATCH -MONDO:0013684 vesicoureteral reflux 6 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614319 LEXMATCH -MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614320 LEXMATCH -MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15788 LEXMATCH -MONDO:0013685 pancreatic cancer, susceptibility to, 4 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614320 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614321 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488650 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17900 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013686 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013686 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614321 LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:closeMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488650 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614322 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284282 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17313 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614322 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013687 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013687 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614322 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284282 LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614322 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304501 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79150 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11004 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614323 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013688 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013688 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614323 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79150 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614323 LEXMATCH -MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614324 LEXMATCH -MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18041 LEXMATCH -MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614324 LEXMATCH -MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614325 LEXMATCH -MONDO:0013690 Pitt-Hopkins-like syndrome 2 skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614325 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614326 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391646 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17625 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013691 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013691 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614326 LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391646 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614327 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289539 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13219 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013692 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013692 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614327 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289539 LEXMATCH -MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614328 LEXMATCH -MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18429 LEXMATCH -MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614328 LEXMATCH -MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 LEXMATCH -MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22553 LEXMATCH -MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614329 LEXMATCH -MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614331 LEXMATCH -MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15789 LEXMATCH -MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614331 LEXMATCH -MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614333 LEXMATCH -MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22554 LEXMATCH -MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614333 LEXMATCH -MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614335 LEXMATCH -MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15790 LEXMATCH -MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614335 LEXMATCH -MONDO:0013699 Lynch syndrome 4 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614337 LEXMATCH -MONDO:0013699 Lynch syndrome 4 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15791 LEXMATCH -MONDO:0013699 Lynch syndrome 4 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614337 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268240 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309031 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17401 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013700 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013700 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614338 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309031 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614338 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614338 LEXMATCH -MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614340 LEXMATCH -MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22555 LEXMATCH -MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614340 LEXMATCH -MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614341 LEXMATCH -MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22556 LEXMATCH -MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614341 LEXMATCH -MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614342 LEXMATCH -MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22557 LEXMATCH -MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614342 LEXMATCH -MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614343 LEXMATCH -MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22558 LEXMATCH -MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614343 LEXMATCH -MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614344 LEXMATCH -MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22559 LEXMATCH -MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614344 LEXMATCH -MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 LEXMATCH -MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22560 LEXMATCH -MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614345 LEXMATCH -MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614346 LEXMATCH -MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22561 LEXMATCH -MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614346 LEXMATCH -MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 LEXMATCH -MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22562 LEXMATCH -MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614347 LEXMATCH -MONDO:0013710 Lynch syndrome 5 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614350 LEXMATCH -MONDO:0013710 Lynch syndrome 5 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15792 LEXMATCH -MONDO:0013710 Lynch syndrome 5 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614350 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614369 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397744 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17639 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013711 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013711 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614369 LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397744 LEXMATCH -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 LEXMATCH -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15793 LEXMATCH -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614370 LEXMATCH -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614371 LEXMATCH -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99828 LEXMATCH -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013713 LEXMATCH -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614371 LEXMATCH -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614373 LEXMATCH -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15794 LEXMATCH -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614373 LEXMATCH -MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614375 LEXMATCH -MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16494 LEXMATCH -MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614375 LEXMATCH -MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614376 LEXMATCH -MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15795 LEXMATCH -MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614376 LEXMATCH -MONDO:0013718 nephronophthisis 13 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614377 LEXMATCH -MONDO:0013718 nephronophthisis 13 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614377 LEXMATCH -MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614378 LEXMATCH -MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15796 LEXMATCH -MONDO:0013719 cranioectodermal dysplasia 4 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614378 LEXMATCH -MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614379 LEXMATCH -MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15797 LEXMATCH -MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614379 LEXMATCH -MONDO:0013721 complement component 4a deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614380 LEXMATCH -MONDO:0013721 complement component 4a deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15798 LEXMATCH -MONDO:0013721 complement component 4a deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614380 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859301 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85186 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1195 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013722 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013722 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614381 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85186 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18624 LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614381 LEXMATCH -MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614385 LEXMATCH -MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15799 LEXMATCH -MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614385 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614388 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330050 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17509 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614388 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013726 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013726 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614388 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330050 LEXMATCH -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614388 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018651 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018133 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:39812 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16642 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013730 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013730 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:39812 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614399 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439212 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12199 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013731 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013731 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614399 LEXMATCH -MONDO:0013731 MEGF10-related myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439212 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614407 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329332 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17502 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013735 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013735 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614407 LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329332 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614409 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320391 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17476 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013737 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013737 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614409 LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320391 LEXMATCH -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614414 LEXMATCH -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22642 LEXMATCH -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614414 LEXMATCH -MONDO:0013739 chilblain lupus 2 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614415 LEXMATCH -MONDO:0013739 chilblain lupus 2 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18494 LEXMATCH -MONDO:0013739 chilblain lupus 2 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614415 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614416 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293925 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17348 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013740 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013740 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614416 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293925 LEXMATCH -MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614417 LEXMATCH -MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18280 LEXMATCH -MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614417 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300345 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17368 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614420 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013743 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013743 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614420 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300345 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614420 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 LEXMATCH -MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614420 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614422 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15800 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614422 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 LEXMATCH -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614422 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15801 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220497 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15801 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013745 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15801 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15801 LEXMATCH -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614424 LEXMATCH -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 LEXMATCH -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614430 LEXMATCH -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 LEXMATCH -MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614430 LEXMATCH -MONDO:0013750 atrial septal defect 8 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614433 LEXMATCH -MONDO:0013750 atrial septal defect 8 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614433 LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15802 LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614434 LEXMATCH -MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 LEXMATCH -MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614435 LEXMATCH -MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15803 LEXMATCH -MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614435 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300319 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12435 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013753 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013753 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614436 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300319 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837805 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99941 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9195 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013753 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013753 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614436 LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99941 LEXMATCH -MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 LEXMATCH -MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614437 LEXMATCH -MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 LEXMATCH -MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15804 LEXMATCH -MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614437 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293633 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17340 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013755 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013755 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614438 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293633 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614438 LEXMATCH -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614441 LEXMATCH -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15805 LEXMATCH -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614441 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614455 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93114 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12011 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013758 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013758 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614455 LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93114 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614456 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293822 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17343 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013759 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013759 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614456 LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293822 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614457 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352333 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17515 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013760 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013760 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614457 LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352333 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614458 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293955 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13571 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013761 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013761 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614458 LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293955 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614462 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401859 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12678 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013762 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013762 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614462 LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401859 LEXMATCH -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 LEXMATCH -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15806 LEXMATCH -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614464 LEXMATCH -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 LEXMATCH -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15806 LEXMATCH -MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614464 LEXMATCH -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 LEXMATCH -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15807 LEXMATCH -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614465 LEXMATCH -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 LEXMATCH -MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614465 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614468 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300359 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17369 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plcg2-associated antibody deficiency and immune dysregulation LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013766 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013766 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614468 LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300359 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614470 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268114 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17262 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614470 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013767 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013767 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614470 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268114 LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614470 LEXMATCH -MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614473 LEXMATCH -MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614473 LEXMATCH -MONDO:0013769 atrioventricular septal defect 5 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614474 LEXMATCH -MONDO:0013769 atrioventricular septal defect 5 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614474 LEXMATCH -MONDO:0013770 atrial septal defect 9 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614475 LEXMATCH -MONDO:0013770 atrial septal defect 9 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614475 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614480 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300293 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17363 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013771 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013771 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614480 LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300293 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614482 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300313 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17365 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013772 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013772 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614482 LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300313 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15808 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614483 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614483 LEXMATCH -MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614485 LEXMATCH -MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18559 LEXMATCH -MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614485 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280976 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436169 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17726 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013775 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013775 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614486 LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436169 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614487 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313772 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17409 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614487 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013776 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013776 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614487 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313772 LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614487 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614491 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840390 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88939 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16776 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013777 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013777 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614491 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88939 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614492 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840391 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88940 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16777 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013778 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013778 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614492 LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88940 LEXMATCH -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614493 LEXMATCH -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15809 LEXMATCH -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614493 LEXMATCH -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614493 LEXMATCH -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614493 LEXMATCH -MONDO:0013780 retinitis pigmentosa 63 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614494 LEXMATCH -MONDO:0013780 retinitis pigmentosa 63 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15810 LEXMATCH -MONDO:0013780 retinitis pigmentosa 63 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614494 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300525 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17372 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013781 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013781 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614495 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300525 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614495 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300530 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17373 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013782 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013782 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614496 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300530 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614496 LEXMATCH -MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614497 LEXMATCH -MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15811 LEXMATCH -MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614497 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614498 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435845 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17718 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013784 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013784 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614498 LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435845 LEXMATCH -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 LEXMATCH -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22563 LEXMATCH -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614499 LEXMATCH -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 LEXMATCH -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15812 LEXMATCH -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614500 LEXMATCH -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 LEXMATCH -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614500 LEXMATCH -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 LEXMATCH -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15813 LEXMATCH -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614504 LEXMATCH -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 LEXMATCH -MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614504 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614507 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300536 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12398 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013789 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013789 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614507 LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300536 LEXMATCH -MONDO:0013790 mirror movements 2 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614508 LEXMATCH -MONDO:0013790 mirror movements 2 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15814 LEXMATCH -MONDO:0013790 mirror movements 2 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614508 LEXMATCH -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 LEXMATCH -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18569 LEXMATCH -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614514 LEXMATCH -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 LEXMATCH -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614521 LEXMATCH -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614521 LEXMATCH -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71493 LEXMATCH -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013794 LEXMATCH -MONDO:0013794 thrombocythemia 3 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614521 LEXMATCH -MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614524 LEXMATCH -MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15815 LEXMATCH -MONDO:0013795 fibrochondrogenesis 2 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614524 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614526 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261272 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13296 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013796 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013796 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614526 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:closeMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261272 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614527 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261265 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13297 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013797 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013797 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614527 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:closeMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261265 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614557 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300179 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17361 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013800 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013800 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614557 LEXMATCH -MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type skos:closeMatch Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300179 LEXMATCH -MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614558 LEXMATCH -MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13085 LEXMATCH -MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614558 LEXMATCH -MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614558 LEXMATCH -MONDO:0013801 developmental and epileptic encephalopathy, 13 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614558 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614559 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313850 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13264 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614559 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013802 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013802 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614559 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313850 LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614559 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614561 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542310 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10732 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013803 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013803 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614561 LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542310 LEXMATCH -MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614563 LEXMATCH -MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16462 LEXMATCH -MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614563 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614564 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313846 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17413 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614564 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013806 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013806 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614564 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313846 LEXMATCH -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614564 LEXMATCH -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614565 LEXMATCH -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15816 LEXMATCH -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614565 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614569 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163634 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6958 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013808 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013808 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614569 LEXMATCH -MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163634 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614576 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464443 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10944 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013810 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013810 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614576 LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:closeMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464443 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614582 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319509 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17453 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013811 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013811 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614582 LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:closeMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319509 LEXMATCH -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614583 LEXMATCH -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15817 LEXMATCH -MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614583 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614588 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306734 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17383 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt21 type LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013813 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013813 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614588 LEXMATCH -MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306734 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313855 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10965 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013815 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013815 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614592 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313855 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614592 LEXMATCH -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614595 LEXMATCH -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18393 LEXMATCH -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614595 LEXMATCH -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614602 LEXMATCH -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15819 LEXMATCH -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614602 LEXMATCH -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614607 LEXMATCH -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15820 LEXMATCH -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614607 LEXMATCH -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614608 LEXMATCH -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15821 LEXMATCH -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614608 LEXMATCH -MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614609 LEXMATCH -MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15822 LEXMATCH -MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614609 LEXMATCH -MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 LEXMATCH -MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15823 LEXMATCH -MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614613 LEXMATCH -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614614 LEXMATCH -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18136 LEXMATCH -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614614 LEXMATCH -MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614615 LEXMATCH -MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15824 LEXMATCH -MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614615 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614616 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314373 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17417 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013825 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013825 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614616 LEXMATCH -MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314373 LEXMATCH -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614617 LEXMATCH -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22643 LEXMATCH -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614617 LEXMATCH -MONDO:0013827 hyperekplexia 3 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614618 LEXMATCH -MONDO:0013827 hyperekplexia 3 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15825 LEXMATCH -MONDO:0013827 hyperekplexia 3 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614618 LEXMATCH -MONDO:0013828 hyperekplexia 2 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614619 LEXMATCH -MONDO:0013828 hyperekplexia 2 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15826 LEXMATCH -MONDO:0013828 hyperekplexia 2 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614619 LEXMATCH -MONDO:0013829 UV-sensitive syndrome 2 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614621 LEXMATCH -MONDO:0013829 UV-sensitive syndrome 2 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15827 LEXMATCH -MONDO:0013829 UV-sensitive syndrome 2 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614621 LEXMATCH -MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614640 LEXMATCH -MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15828 LEXMATCH -MONDO:0013834 UV-sensitive syndrome 3 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614640 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614643 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15829 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614643 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013835 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614643 LEXMATCH -MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614643 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614650 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280406 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17295 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614650 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013836 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013836 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614650 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280406 LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614650 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614651 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254898 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17230 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013837 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013837 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614651 LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254898 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614653 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314381 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12987 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013839 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013839 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614653 LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314381 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614654 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319678 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17470 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013840 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013840 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614654 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319678 LEXMATCH -MONDO:0013842 cortisone reductase deficiency 2 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614662 LEXMATCH -MONDO:0013842 cortisone reductase deficiency 2 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15830 LEXMATCH -MONDO:0013842 cortisone reductase deficiency 2 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614662 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614665 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314376 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17418 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013843 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013843 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614665 LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314376 LEXMATCH -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614669 LEXMATCH -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15831 LEXMATCH -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614669 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614671 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370079 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12388 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614671 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013847 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013847 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614671 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370079 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614671 LEXMATCH -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614672 LEXMATCH -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15832 LEXMATCH -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614672 LEXMATCH -MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614673 LEXMATCH -MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15833 LEXMATCH -MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614673 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614675 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314399 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17420 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614675 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013851 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013851 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614675 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314399 LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614675 LEXMATCH -MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614678 LEXMATCH -MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15834 LEXMATCH -MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614678 LEXMATCH -MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614679 LEXMATCH -MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15835 LEXMATCH -MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614679 LEXMATCH -MONDO:0013857 alar cleft, isolated skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614687 LEXMATCH -MONDO:0013857 alar cleft, isolated skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614687 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614688 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269229 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10919 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013858 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013858 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614688 LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269229 LEXMATCH -MONDO:0013859 cataract 38 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614691 LEXMATCH -MONDO:0013859 cataract 38 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614691 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614692 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086445 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97560 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9180 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013860 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013860 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614692 LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97560 LEXMATCH -MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 LEXMATCH -MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15836 LEXMATCH -MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614699 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:445018 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13565 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013863 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013863 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614700 LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:445018 LEXMATCH -MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614701 LEXMATCH -MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15837 LEXMATCH -MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614701 LEXMATCH -MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614701 LEXMATCH -MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614701 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614702 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314637 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17428 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614702 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013865 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013865 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614702 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314637 LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614702 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314629 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17426 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln11 disease LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013866 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013866 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614706 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314629 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 LEXMATCH -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614706 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572550 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12861 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013867 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013867 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572550 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614707 LEXMATCH -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614707 LEXMATCH -MONDO:0013868 porokeratosis 7, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614714 LEXMATCH -MONDO:0013868 porokeratosis 7, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15838 LEXMATCH -MONDO:0013868 porokeratosis 7, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614714 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:976 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:546 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013869 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013869 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614723 LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:976 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614727 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314667 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12413 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013870 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013870 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614727 LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314667 LEXMATCH -MONDO:0013871 Seckel syndrome 6 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614728 LEXMATCH -MONDO:0013871 Seckel syndrome 6 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614728 LEXMATCH -MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614731 LEXMATCH -MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15839 LEXMATCH -MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614731 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614732 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846009 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85173 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12312 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013873 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013873 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614732 LEXMATCH -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85173 LEXMATCH -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614736 LEXMATCH -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15840 LEXMATCH -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614736 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614739 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352328 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12963 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013875 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013875 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614739 LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352328 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614741 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447784 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17771 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013877 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013877 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614741 LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447784 LEXMATCH -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 LEXMATCH -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88 LEXMATCH -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013878 LEXMATCH -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614742 LEXMATCH -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614743 LEXMATCH -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88 LEXMATCH -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013879 LEXMATCH -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614743 LEXMATCH -MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614744 LEXMATCH -MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18437 LEXMATCH -MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614744 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614748 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306504 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17377 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013881 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013881 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614748 LEXMATCH -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306504 LEXMATCH -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614749 LEXMATCH -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18351 LEXMATCH -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614749 LEXMATCH -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 LEXMATCH -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18452 LEXMATCH -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614750 LEXMATCH -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 LEXMATCH -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614750 LEXMATCH -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614751 LEXMATCH -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18267 LEXMATCH -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614751 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420179 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13811 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614753 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013885 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013885 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614753 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420179 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614753 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614756 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314647 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17429 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614756 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-progressive cerebellar ataxia with intellectual disability LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013886 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013886 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614756 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314647 LEXMATCH -MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614756 LEXMATCH -MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614779 LEXMATCH -MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614779 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614800 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391677 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10945 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature-optic atrophy-pelger-huët anomaly syndrome LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013889 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013889 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614800 LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391677 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319160 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17443 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013890 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013890 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614807 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319160 LEXMATCH -MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614808 LEXMATCH -MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15841 LEXMATCH -MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614808 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614809 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329931 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16487 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013892 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013892 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614809 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329931 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614809 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614813 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314394 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17419 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013894 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013894 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614813 LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314394 LEXMATCH -MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614814 LEXMATCH -MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15842 LEXMATCH -MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614814 LEXMATCH -MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 LEXMATCH -MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15843 LEXMATCH -MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614815 LEXMATCH -MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 LEXMATCH -MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614815 LEXMATCH -MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614816 LEXMATCH -MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10588 LEXMATCH -MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614816 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614817 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401996 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11003 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614817 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013898 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013898 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614817 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401996 LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614817 LEXMATCH -MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614819 LEXMATCH -MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15844 LEXMATCH -MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614819 LEXMATCH -MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614820 LEXMATCH -MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15845 LEXMATCH -MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614820 LEXMATCH -MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614822 LEXMATCH -MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18401 LEXMATCH -MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614822 LEXMATCH -MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614823 LEXMATCH -MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18471 LEXMATCH -MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614823 LEXMATCH -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614830 LEXMATCH -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15846 LEXMATCH -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013904 LEXMATCH -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614830 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324262 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17481 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013905 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013905 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324262 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614831 LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614831 LEXMATCH -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 LEXMATCH -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15847 LEXMATCH -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614832 LEXMATCH -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 LEXMATCH -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614832 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:208447 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10786 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013907 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013907 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:208447 LEXMATCH -MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614834 LEXMATCH -MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15848 LEXMATCH -MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614834 LEXMATCH -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 LEXMATCH -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15849 LEXMATCH -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614837 LEXMATCH -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 LEXMATCH -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15849 LEXMATCH -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614837 LEXMATCH -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 LEXMATCH -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15850 LEXMATCH -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614838 LEXMATCH -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 LEXMATCH -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15850 LEXMATCH -MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614838 LEXMATCH -MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614839 LEXMATCH -MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18600 LEXMATCH -MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614839 LEXMATCH -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 LEXMATCH -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15851 LEXMATCH -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614840 LEXMATCH -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 LEXMATCH -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15851 LEXMATCH -MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614840 LEXMATCH -MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614841 LEXMATCH -MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:276 LEXMATCH -MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614841 LEXMATCH -MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614842 LEXMATCH -MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18601 LEXMATCH -MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614842 LEXMATCH -MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614844 LEXMATCH -MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2318 LEXMATCH -MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013916 LEXMATCH -MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614844 LEXMATCH -MONDO:0013917 nephronophthisis 15 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614845 LEXMATCH -MONDO:0013917 nephronophthisis 15 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15852 LEXMATCH -MONDO:0013917 nephronophthisis 15 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614845 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614846 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314588 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17424 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013918 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013918 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614846 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314588 LEXMATCH -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614849 LEXMATCH -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15853 LEXMATCH -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614849 LEXMATCH -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614850 LEXMATCH -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15854 LEXMATCH -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614850 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319675 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17469 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013922 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013922 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614851 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319675 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614851 LEXMATCH -MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614852 LEXMATCH -MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15855 LEXMATCH -MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614852 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15856 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013924 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614856 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 LEXMATCH -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614856 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614857 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369955 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12621 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013925 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013925 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614857 LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369955 LEXMATCH -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 LEXMATCH -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15857 LEXMATCH -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614858 LEXMATCH -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 LEXMATCH -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15857 LEXMATCH -MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614858 LEXMATCH -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 LEXMATCH -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614859 LEXMATCH -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 LEXMATCH -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15858 LEXMATCH -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614859 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614860 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420492 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17694 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614860 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset cervical dystonia, dyt23 type LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013928 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013928 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614860 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420492 LEXMATCH -MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614860 LEXMATCH -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614861 LEXMATCH -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22644 LEXMATCH -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614861 LEXMATCH -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 LEXMATCH -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614862 LEXMATCH -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 LEXMATCH -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15859 LEXMATCH -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614862 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15860 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614863 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15860 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614863 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 LEXMATCH -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614863 LEXMATCH -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 LEXMATCH -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614866 LEXMATCH -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 LEXMATCH -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15861 LEXMATCH -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614866 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15862 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614867 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15862 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614867 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 LEXMATCH -MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614867 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614868 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314689 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17430 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013934 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013934 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614868 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314689 LEXMATCH -MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 LEXMATCH -MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15863 LEXMATCH -MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614869 LEXMATCH -MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 LEXMATCH -MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614869 LEXMATCH -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 LEXMATCH -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614870 LEXMATCH -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 LEXMATCH -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15864 LEXMATCH -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614870 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15865 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614871 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15865 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614871 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 LEXMATCH -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614871 LEXMATCH -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 LEXMATCH -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614872 LEXMATCH -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 LEXMATCH -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15866 LEXMATCH -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614872 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15867 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614873 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15867 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614873 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 LEXMATCH -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614873 LEXMATCH -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614874 LEXMATCH -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15868 LEXMATCH -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614874 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99646 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16902 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013941 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013941 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614875 LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99646 LEXMATCH -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 LEXMATCH -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614876 LEXMATCH -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 LEXMATCH -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15869 LEXMATCH -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614876 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15870 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614877 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15870 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614877 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 LEXMATCH -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614877 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614878 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324530 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17486 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614878 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013944 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013944 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614878 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324530 LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614878 LEXMATCH -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 LEXMATCH -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15871 LEXMATCH -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614879 LEXMATCH -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 LEXMATCH -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614879 LEXMATCH -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 LEXMATCH -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15872 LEXMATCH -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614880 LEXMATCH -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 LEXMATCH -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15872 LEXMATCH -MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614880 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314485 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18443 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17421 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013947 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013947 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314485 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 LEXMATCH -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614882 LEXMATCH -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 LEXMATCH -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15873 LEXMATCH -MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614882 LEXMATCH -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 LEXMATCH -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614883 LEXMATCH -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 LEXMATCH -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15874 LEXMATCH -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614883 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15875 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614885 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15875 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614885 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 LEXMATCH -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614885 LEXMATCH -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 LEXMATCH -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614886 LEXMATCH -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 LEXMATCH -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15876 LEXMATCH -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614886 LEXMATCH -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 LEXMATCH -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614887 LEXMATCH -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 LEXMATCH -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15877 LEXMATCH -MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614887 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614889 LEXMATCH -MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614889 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319558 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12976 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013954 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013954 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614890 LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319558 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319552 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10984 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013955 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013955 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614891 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319552 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319595 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17462 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013956 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013956 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614892 LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319595 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319600 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17463 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013957 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013957 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614893 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319600 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614895 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99952 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12441 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614895 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013959 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013959 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614895 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99952 LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614895 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614896 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324321 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17484 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013960 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013960 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614896 LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324321 LEXMATCH -MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614897 LEXMATCH -MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15878 LEXMATCH -MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614897 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614898 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319199 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17445 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013962 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013962 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614898 LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319199 LEXMATCH -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 LEXMATCH -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22645 LEXMATCH -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614899 LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614900 LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15879 LEXMATCH -MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614900 LEXMATCH -MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614915 LEXMATCH -MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137783 LEXMATCH -MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12645 LEXMATCH -MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013965 LEXMATCH -MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614915 LEXMATCH -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614916 LEXMATCH -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15880 LEXMATCH -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614916 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15881 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15881 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614920 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614921 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752015 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319646 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4329 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614921 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013968 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013968 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614921 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319646 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614921 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324535 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17487 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013969 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013969 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614922 LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324535 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614923 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308410 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17389 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013970 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013970 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614923 LEXMATCH -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308410 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614924 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314051 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12893 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013971 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013971 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614924 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314051 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614926 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15882 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614926 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614926 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614926 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:642976 Perrault syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013972 LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:642976 Perrault syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013972 LEXMATCH -MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614927 LEXMATCH -MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18063 LEXMATCH -MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614927 LEXMATCH -MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614928 LEXMATCH -MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18064 LEXMATCH -MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614928 LEXMATCH -MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614929 LEXMATCH -MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18065 LEXMATCH -MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614929 LEXMATCH -MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614931 LEXMATCH -MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18066 LEXMATCH -MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614931 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614932 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319514 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17454 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013977 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013977 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614932 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319514 LEXMATCH -MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614934 LEXMATCH -MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22646 LEXMATCH -MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614934 LEXMATCH -MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614935 LEXMATCH -MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15883 LEXMATCH -MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614935 LEXMATCH -MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614936 LEXMATCH -MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15884 LEXMATCH -MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614936 LEXMATCH -MONDO:0013981 myoclonus, familial skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319189 LEXMATCH -MONDO:0013981 myoclonus, familial skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17444 LEXMATCH -MONDO:0013981 myoclonus, familial skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013981 LEXMATCH -MONDO:0013981 myoclonus, familial skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013981 LEXMATCH -MONDO:0013981 myoclonus, familial skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319189 LEXMATCH -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 LEXMATCH -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18592 LEXMATCH -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614940 LEXMATCH -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 LEXMATCH -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614940 LEXMATCH -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 LEXMATCH -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614941 LEXMATCH -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 LEXMATCH -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15885 LEXMATCH -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614941 LEXMATCH -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614944 LEXMATCH -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22647 LEXMATCH -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614944 LEXMATCH -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614945 LEXMATCH -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22648 LEXMATCH -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614945 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614946 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319519 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17455 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013986 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013986 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614946 LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319519 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614947 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319524 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17456 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013987 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013987 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614947 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319524 LEXMATCH -MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614959 LEXMATCH -MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15886 LEXMATCH -MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614959 LEXMATCH -MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614959 LEXMATCH -MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614959 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614961 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324569 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17488 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013990 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013990 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614961 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324569 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614962 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66628 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13015 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013991 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013991 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614962 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66628 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614963 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:179494 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17083 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013992 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013992 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614963 LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:179494 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614969 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284339 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17315 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013993 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013993 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614969 LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284339 LEXMATCH -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 LEXMATCH -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15887 LEXMATCH -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614970 LEXMATCH -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 LEXMATCH -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15887 LEXMATCH -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614970 LEXMATCH -MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614972 LEXMATCH -MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15888 LEXMATCH -MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614972 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614973 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398173 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17649 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013996 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013996 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614973 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398173 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614974 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398189 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17650 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013997 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013997 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614974 LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398189 LEXMATCH -MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614976 LEXMATCH -MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15889 LEXMATCH -MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614976 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614979 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313800 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17411 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614979 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0013999 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0013999 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614979 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313800 LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614979 LEXMATCH -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 LEXMATCH -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15890 LEXMATCH -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614990 LEXMATCH -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 LEXMATCH -MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614990 LEXMATCH -MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615005 LEXMATCH -MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15891 LEXMATCH -MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615005 LEXMATCH -MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615006 LEXMATCH -MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15892 LEXMATCH -MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615006 LEXMATCH -MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615006 LEXMATCH -MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615006 LEXMATCH -MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615007 LEXMATCH -MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15893 LEXMATCH -MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615007 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329903 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17506 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014005 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014005 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329903 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18557 LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615008 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615009 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329224 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13043 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pacs1-related syndrome LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014006 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014006 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615009 LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329224 LEXMATCH -MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615010 LEXMATCH -MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15894 LEXMATCH -MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615010 LEXMATCH -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615022 LEXMATCH -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15895 LEXMATCH -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615022 LEXMATCH -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615023 LEXMATCH -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15896 LEXMATCH -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615023 LEXMATCH -MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615024 LEXMATCH -MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15897 LEXMATCH -MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615024 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615025 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329258 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12446 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014012 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014012 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615025 LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329258 LEXMATCH -MONDO:0014013 maternal riboflavin deficiency skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411712 LEXMATCH -MONDO:0014013 maternal riboflavin deficiency skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17686 LEXMATCH -MONDO:0014013 maternal riboflavin deficiency skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014013 LEXMATCH -MONDO:0014013 maternal riboflavin deficiency skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014013 LEXMATCH -MONDO:0014013 maternal riboflavin deficiency skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411712 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615028 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412189 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17691 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014014 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014014 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615028 LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412189 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615030 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320411 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17480 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014015 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014015 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615030 LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320411 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615031 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320385 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13568 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014016 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014016 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615031 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320385 LEXMATCH -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:closeMatch Orphanet:642675 CHD8 overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014017 LEXMATCH -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:closeMatch Orphanet:642675 CHD8 overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014017 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615033 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320380 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17475 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014018 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014018 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615033 LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320380 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615034 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420485 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17693 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranio-cervical dystonia with laryngeal and upper-limb involvement LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014019 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014019 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615034 LEXMATCH -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420485 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615035 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320375 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17474 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014020 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014020 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615035 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320375 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615040 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391389 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17618 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014021 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014021 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615040 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391389 LEXMATCH -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615041 LEXMATCH -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15898 LEXMATCH -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014022 LEXMATCH -MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615041 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615042 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329178 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12416 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014023 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014023 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615042 LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329178 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615043 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320370 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17473 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014024 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014024 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615043 LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320370 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615048 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276435 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17282 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, jokela type LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014025 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014025 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615048 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276435 LEXMATCH -MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615058 LEXMATCH -MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15899 LEXMATCH -MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615058 LEXMATCH -MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615058 LEXMATCH -MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615058 LEXMATCH -MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615059 LEXMATCH -MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15900 LEXMATCH -MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615059 LEXMATCH -MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615059 LEXMATCH -MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615059 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329457 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13059 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014028 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014028 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615065 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329457 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615065 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15901 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014029 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615066 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 LEXMATCH -MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615066 LEXMATCH -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615067 LEXMATCH -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15902 LEXMATCH -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615067 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615071 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319671 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17468 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615071 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014031 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014031 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615071 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319671 LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615071 LEXMATCH -MONDO:0014032 brachydactyly type A1C skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615072 LEXMATCH -MONDO:0014032 brachydactyly type A1C skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15903 LEXMATCH -MONDO:0014032 brachydactyly type A1C skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615072 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615073 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329466 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10667 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant focal dystonia, dyt25 type LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014033 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014033 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615073 LEXMATCH -MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329466 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615074 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363686 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12815 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615074 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014034 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014034 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615074 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363686 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615074 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615075 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404473 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3505 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014035 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014035 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615075 LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404473 LEXMATCH -MONDO:0014037 spermatogenic failure 11 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615081 LEXMATCH -MONDO:0014037 spermatogenic failure 11 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15904 LEXMATCH -MONDO:0014037 spermatogenic failure 11 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615081 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18486 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615083 LEXMATCH -MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615083 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615084 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352447 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17517 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia-myopathy-emaciation syndrome LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014039 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014039 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615084 LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352447 LEXMATCH -MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615085 LEXMATCH -MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15905 LEXMATCH -MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615085 LEXMATCH -MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615092 LEXMATCH -MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15906 LEXMATCH -MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615092 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615095 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329228 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17498 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615095 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014043 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014043 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615095 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329228 LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615095 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615102 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289553 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17328 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014044 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014044 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615102 LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289553 LEXMATCH -MONDO:0014046 Cowden syndrome 4 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615107 LEXMATCH -MONDO:0014046 Cowden syndrome 4 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16463 LEXMATCH -MONDO:0014046 Cowden syndrome 4 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615107 LEXMATCH -MONDO:0014047 Cowden syndrome 5 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615108 LEXMATCH -MONDO:0014047 Cowden syndrome 5 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16464 LEXMATCH -MONDO:0014047 Cowden syndrome 5 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615108 LEXMATCH -MONDO:0014048 Cowden syndrome 6 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615109 LEXMATCH -MONDO:0014048 Cowden syndrome 6 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16465 LEXMATCH -MONDO:0014048 Cowden syndrome 6 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615109 LEXMATCH -MONDO:0014049 urofacial syndrome 2 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615112 LEXMATCH -MONDO:0014049 urofacial syndrome 2 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15907 LEXMATCH -MONDO:0014049 urofacial syndrome 2 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615112 LEXMATCH -MONDO:0014050 isolated microphthalmia 8 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615113 LEXMATCH -MONDO:0014050 isolated microphthalmia 8 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615113 LEXMATCH -MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615119 LEXMATCH -MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18571 LEXMATCH -MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615119 LEXMATCH -MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615119 LEXMATCH -MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615119 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615120 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15908 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615120 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15908 LEXMATCH -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615120 LEXMATCH -MONDO:0014054 lymphoproliferative syndrome 2 skos:closeMatch Orphanet:238505 Combined immunodeficiency due to CD27 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615122 LEXMATCH -MONDO:0014054 lymphoproliferative syndrome 2 skos:closeMatch Orphanet:238505 Combined immunodeficiency due to CD27 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615122 LEXMATCH -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615127 LEXMATCH -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18085 LEXMATCH -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615127 LEXMATCH -MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615134 LEXMATCH -MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18581 LEXMATCH -MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615134 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18388 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615135 LEXMATCH -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615135 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615139 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352712 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17528 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014058 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014058 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615139 LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352712 LEXMATCH -MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615145 LEXMATCH -MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15909 LEXMATCH -MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615145 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615147 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352718 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17529 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014060 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014060 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615147 LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352718 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615155 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438117 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17735 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014061 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014061 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615155 LEXMATCH -MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438117 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615156 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352470 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17518 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014062 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014062 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615156 LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352470 LEXMATCH -MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615157 LEXMATCH -MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15910 LEXMATCH -MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615157 LEXMATCH -MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615158 LEXMATCH -MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15911 LEXMATCH -MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615158 LEXMATCH -MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615159 LEXMATCH -MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15912 LEXMATCH -MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615159 LEXMATCH -MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615160 LEXMATCH -MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15913 LEXMATCH -MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615160 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357175 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17548 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014067 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014067 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615162 LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357175 LEXMATCH -MONDO:0014068 cone-rod dystrophy 17 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615163 LEXMATCH -MONDO:0014068 cone-rod dystrophy 17 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15914 LEXMATCH -MONDO:0014068 cone-rod dystrophy 17 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615163 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615170 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357332 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17551 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014069 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014069 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615170 LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357332 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615179 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352745 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17531 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014070 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014070 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615179 LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352745 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15915 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615181 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15915 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014071 LEXMATCH -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615181 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615182 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:356978 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17540 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014072 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014072 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615182 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:356978 LEXMATCH -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 LEXMATCH -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15916 LEXMATCH -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615184 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615185 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352670 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9206 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014074 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014074 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615185 LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352670 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615188 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615188 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615188 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615188 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98988 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014075 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014075 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014075 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15917 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615190 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3322 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15917 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014076 LEXMATCH -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615190 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352682 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17526 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014077 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014077 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615191 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352682 LEXMATCH -MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615193 LEXMATCH -MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18272 LEXMATCH -MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615193 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615198 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500548 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17931 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615198 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014080 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014080 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615198 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500548 LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615198 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357237 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17549 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014081 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014081 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615206 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357237 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357329 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17550 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014082 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014082 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615207 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357329 LEXMATCH -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 LEXMATCH -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615214 LEXMATCH -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 LEXMATCH -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15918 LEXMATCH -MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615214 LEXMATCH -MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615217 LEXMATCH -MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13112 LEXMATCH -MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615217 LEXMATCH -MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615219 LEXMATCH -MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615219 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15919 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014086 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615220 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15919 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014086 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615220 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 LEXMATCH -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615220 LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15921 LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615222 LEXMATCH -MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615224 LEXMATCH -MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15922 LEXMATCH -MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615224 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615225 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352662 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17525 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615225 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014089 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014089 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615225 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352662 LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615225 LEXMATCH -MONDO:0014090 polydactyly, postaxial, type A6 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615226 LEXMATCH -MONDO:0014090 polydactyly, postaxial, type A6 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18176 LEXMATCH -MONDO:0014090 polydactyly, postaxial, type A6 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615226 LEXMATCH -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615228 LEXMATCH -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18667 LEXMATCH -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615228 LEXMATCH -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615228 LEXMATCH -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615228 LEXMATCH -MONDO:0014093 retinitis pigmentosa 66 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615233 LEXMATCH -MONDO:0014093 retinitis pigmentosa 66 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15923 LEXMATCH -MONDO:0014093 retinitis pigmentosa 66 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615233 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615234 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300298 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17364 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014094 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014094 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615234 LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300298 LEXMATCH -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615235 LEXMATCH -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15924 LEXMATCH -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615235 LEXMATCH -MONDO:0014097 congenital short bowel syndrome skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2301 LEXMATCH -MONDO:0014097 congenital short bowel syndrome skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16592 LEXMATCH -MONDO:0014097 congenital short bowel syndrome skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014097 LEXMATCH -MONDO:0014097 congenital short bowel syndrome skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014097 LEXMATCH -MONDO:0014097 congenital short bowel syndrome skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2301 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615238 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435651 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13125 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014098 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014098 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615238 LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435651 LEXMATCH -MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615244 LEXMATCH -MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15925 LEXMATCH -MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615244 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:154 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15926 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014100 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615248 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75249 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014100 LEXMATCH -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615248 LEXMATCH -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615249 LEXMATCH -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15927 LEXMATCH -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014101 LEXMATCH -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615249 LEXMATCH -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 LEXMATCH -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15928 LEXMATCH -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615266 LEXMATCH -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 LEXMATCH -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15928 LEXMATCH -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615266 LEXMATCH -MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615267 LEXMATCH -MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15929 LEXMATCH -MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615267 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15930 LEXMATCH -MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615268 LEXMATCH -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 LEXMATCH -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15931 LEXMATCH -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615269 LEXMATCH -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 LEXMATCH -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15931 LEXMATCH -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615269 LEXMATCH -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 LEXMATCH -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15932 LEXMATCH -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615270 LEXMATCH -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 LEXMATCH -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15932 LEXMATCH -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615270 LEXMATCH -MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615271 LEXMATCH -MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15933 LEXMATCH -MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615271 LEXMATCH -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615272 LEXMATCH -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15934 LEXMATCH -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615272 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615274 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615274 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98985 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014110 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98989 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014110 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014110 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014110 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014110 LEXMATCH -MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615277 LEXMATCH -MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615277 LEXMATCH -MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98984 LEXMATCH -MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014111 LEXMATCH -MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615278 LEXMATCH -MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15935 LEXMATCH -MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615278 LEXMATCH -MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615278 LEXMATCH -MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615278 LEXMATCH -MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615279 LEXMATCH -MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15936 LEXMATCH -MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615279 LEXMATCH -MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615279 LEXMATCH -MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615279 LEXMATCH -MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615280 LEXMATCH -MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15937 LEXMATCH -MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615280 LEXMATCH -MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615280 LEXMATCH -MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615280 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615281 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363412 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17554 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014115 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014115 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615281 LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363412 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615284 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363981 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17578 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014117 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014117 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615284 LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363981 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615285 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369852 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17585 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014118 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014118 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615285 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369852 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615286 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363528 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17563 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615286 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014119 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014119 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615286 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363528 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615286 LEXMATCH -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615287 LEXMATCH -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15938 LEXMATCH -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014120 LEXMATCH -MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615287 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363454 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13222 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014121 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014121 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615290 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363454 LEXMATCH -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615290 LEXMATCH -MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615293 LEXMATCH -MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15939 LEXMATCH -MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615293 LEXMATCH -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615294 LEXMATCH -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15940 LEXMATCH -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615294 LEXMATCH -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615294 LEXMATCH -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615294 LEXMATCH -MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615297 LEXMATCH -MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15941 LEXMATCH -MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615297 LEXMATCH -MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615297 LEXMATCH -MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615297 LEXMATCH -MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 LEXMATCH -MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15942 LEXMATCH -MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615298 LEXMATCH -MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615298 LEXMATCH -MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615298 LEXMATCH -MONDO:0014126 Perrault syndrome 4 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615300 LEXMATCH -MONDO:0014126 Perrault syndrome 4 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15943 LEXMATCH -MONDO:0014126 Perrault syndrome 4 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615300 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615312 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370091 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17598 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014127 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014127 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615312 LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370091 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18047 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615314 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615314 LEXMATCH -MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615314 LEXMATCH -MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615327 LEXMATCH -MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15944 LEXMATCH -MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615327 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615328 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363523 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17562 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014131 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014131 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615328 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363523 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615330 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363424 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17555 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014132 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014132 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615330 LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363424 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15945 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352596 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014133 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615338 LEXMATCH -MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615338 LEXMATCH -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 LEXMATCH -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18394 LEXMATCH -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615342 LEXMATCH -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 LEXMATCH -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615342 LEXMATCH -MONDO:0014135 pulmonary hypertension, primary, 3 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615343 LEXMATCH -MONDO:0014135 pulmonary hypertension, primary, 3 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615343 LEXMATCH -MONDO:0014136 pulmonary hypertension, primary, 4 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615344 LEXMATCH -MONDO:0014136 pulmonary hypertension, primary, 4 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615344 LEXMATCH -MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615348 LEXMATCH -MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15946 LEXMATCH -MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615348 LEXMATCH -MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615348 LEXMATCH -MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615348 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615349 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:536467 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17974 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615349 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014139 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014139 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615349 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:536467 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615349 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15947 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615349 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615349 LEXMATCH -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615350 LEXMATCH -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15948 LEXMATCH -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615350 LEXMATCH -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615350 LEXMATCH -MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615350 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370959 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014141 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370968 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014141 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615351 LEXMATCH -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615351 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615352 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363623 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12544 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615352 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2t LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014142 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014142 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615352 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363623 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615352 LEXMATCH -MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615355 LEXMATCH -MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15949 LEXMATCH -MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615355 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369840 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12543 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2s LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014144 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014144 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615356 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369840 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615356 LEXMATCH -MONDO:0014145 Leber congenital amaurosis 17 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615360 LEXMATCH -MONDO:0014145 Leber congenital amaurosis 17 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15950 LEXMATCH -MONDO:0014145 Leber congenital amaurosis 17 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615360 LEXMATCH -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 LEXMATCH -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615361 LEXMATCH -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 LEXMATCH -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15951 LEXMATCH -MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615361 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352709 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17527 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln13 disease LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014147 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014147 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615362 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352709 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 LEXMATCH -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615362 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615363 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:785 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16548 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014148 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014148 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615363 LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:785 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615368 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363409 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17553 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615368 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014149 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014149 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615368 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363409 LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615368 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13197 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13197 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615369 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615369 LEXMATCH -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 LEXMATCH -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615373 LEXMATCH -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 LEXMATCH -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15952 LEXMATCH -MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615373 LEXMATCH -MONDO:0014153 cone-rod dystrophy 18 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615374 LEXMATCH -MONDO:0014153 cone-rod dystrophy 18 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15953 LEXMATCH -MONDO:0014153 cone-rod dystrophy 18 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615374 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615376 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369867 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17587 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014154 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014154 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615376 LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369867 LEXMATCH -MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615377 LEXMATCH -MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15954 LEXMATCH -MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615377 LEXMATCH -MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615378 LEXMATCH -MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15955 LEXMATCH -MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615378 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615381 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363649 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10989 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014157 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014157 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615381 LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363649 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615382 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93591 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18183 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nephronophthisis LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nphp LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephronophthisis LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014158 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615382 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18183 LEXMATCH -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615382 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615386 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352403 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17516 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spectrin-associated autosomal recessive cerebellar ataxia LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014159 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014159 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615386 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352403 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615387 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397959 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17646 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014160 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014160 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615387 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397959 LEXMATCH -MONDO:0014161 vesicoureteral reflux 7 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615390 LEXMATCH -MONDO:0014161 vesicoureteral reflux 7 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18424 LEXMATCH -MONDO:0014161 vesicoureteral reflux 7 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615390 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615395 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352563 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12892 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014162 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014162 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615395 LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352563 LEXMATCH -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 LEXMATCH -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615396 LEXMATCH -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 LEXMATCH -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15956 LEXMATCH -MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615396 LEXMATCH -MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615397 LEXMATCH -MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15957 LEXMATCH -MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615397 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615398 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369837 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17584 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014165 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014165 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615398 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369837 LEXMATCH -MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615399 LEXMATCH -MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15958 LEXMATCH -MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615399 LEXMATCH -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615400 LEXMATCH -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18086 LEXMATCH -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615400 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615401 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228003 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17144 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014168 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014168 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615401 LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228003 LEXMATCH -MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615402 LEXMATCH -MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15959 LEXMATCH -MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615402 LEXMATCH -MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 LEXMATCH -MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15960 LEXMATCH -MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615413 LEXMATCH -MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 LEXMATCH -MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615413 LEXMATCH -MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615414 LEXMATCH -MONDO:0014173 microcephaly 11, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615414 LEXMATCH -MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615415 LEXMATCH -MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18432 LEXMATCH -MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615415 LEXMATCH -MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615418 LEXMATCH -MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15961 LEXMATCH -MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615418 LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371364 LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17609 LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014176 LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014176 LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:371364 LEXMATCH -MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615422 LEXMATCH -MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15962 LEXMATCH -MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615422 LEXMATCH -MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615424 LEXMATCH -MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15963 LEXMATCH -MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615424 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615425 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412181 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17690 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014180 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014180 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615425 LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412181 LEXMATCH -MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615426 LEXMATCH -MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15964 LEXMATCH -MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615426 LEXMATCH -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615429 LEXMATCH -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22649 LEXMATCH -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615429 LEXMATCH -MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615431 LEXMATCH -MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18198 LEXMATCH -MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615431 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615433 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1621 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16573 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014185 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014185 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615433 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1621 LEXMATCH -MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615434 LEXMATCH -MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15965 LEXMATCH -MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615434 LEXMATCH -MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615436 LEXMATCH -MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15966 LEXMATCH -MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615436 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615440 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369913 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17589 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615440 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014190 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014190 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615440 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369913 LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615440 LEXMATCH -MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615441 LEXMATCH -MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15967 LEXMATCH -MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615441 LEXMATCH -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615444 LEXMATCH -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15968 LEXMATCH -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615444 LEXMATCH -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615451 LEXMATCH -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15969 LEXMATCH -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615451 LEXMATCH -MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615453 LEXMATCH -MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15970 LEXMATCH -MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615453 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615458 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369970 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17593 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014195 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014195 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615458 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369970 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615465 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845146 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2117 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2725 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014196 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014196 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615465 LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2117 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397964 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17647 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615468 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014197 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014197 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615468 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397964 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615468 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615471 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369897 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13298 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014198 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014198 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615471 LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369897 LEXMATCH -MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13378 LEXMATCH -MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615473 LEXMATCH -MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615473 LEXMATCH -MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615473 LEXMATCH -MONDO:0014199 developmental and epileptic encephalopathy, 17 skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615473 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615474 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369929 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17591 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014200 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014200 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615474 LEXMATCH -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369929 LEXMATCH -MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615476 LEXMATCH -MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13676 LEXMATCH -MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615476 LEXMATCH -MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615476 LEXMATCH -MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615476 LEXMATCH -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615481 LEXMATCH -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15971 LEXMATCH -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615481 LEXMATCH -MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615482 LEXMATCH -MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15972 LEXMATCH -MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615482 LEXMATCH -MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615483 LEXMATCH -MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15973 LEXMATCH -MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615483 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615485 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352577 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13259 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014205 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014205 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615485 LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352577 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370088 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014206 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615486 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440427 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17746 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014206 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014206 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615486 LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440427 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615490 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397968 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12451 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014208 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014208 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615490 LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397968 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352654 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17523 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014209 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014209 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615491 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352654 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:356996 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17541 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615493 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014210 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014210 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615493 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:356996 LEXMATCH -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615493 LEXMATCH -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615500 LEXMATCH -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15974 LEXMATCH -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615500 LEXMATCH -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615500 LEXMATCH -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615500 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854990 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308400 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17388 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014212 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014212 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615501 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308400 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615501 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615501 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615502 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363611 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17566 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014213 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014213 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615502 LEXMATCH -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363611 LEXMATCH -MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615503 LEXMATCH -MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15975 LEXMATCH -MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615503 LEXMATCH -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615504 LEXMATCH -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15976 LEXMATCH -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615504 LEXMATCH -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615505 LEXMATCH -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15977 LEXMATCH -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615505 LEXMATCH -MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615506 LEXMATCH -MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15978 LEXMATCH -MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615506 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369992 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17594 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014218 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014218 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615508 LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369992 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12404 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615510 LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15248 LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amp deaminase deficiency LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine monophosphate deaminase deficiency LEXMATCH -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615511 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615512 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860808 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:868 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5287 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014221 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014221 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615512 LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:868 LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15979 LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label activated pi3k-delta syndrome LEXMATCH -MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615513 LEXMATCH -MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615515 LEXMATCH -MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15980 LEXMATCH -MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615515 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329195 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17496 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014224 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014224 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615516 LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329195 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615517 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247790 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13472 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014225 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014225 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615517 LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247790 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228000 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12375 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014226 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014226 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615518 LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228000 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615522 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324561 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12384 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disease LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014227 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014227 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615522 LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324561 LEXMATCH -MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615523 LEXMATCH -MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18223 LEXMATCH -MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615523 LEXMATCH -MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 LEXMATCH -MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13235 LEXMATCH -MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615524 LEXMATCH -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615527 LEXMATCH -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15981 LEXMATCH -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615527 LEXMATCH -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 LEXMATCH -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615528 LEXMATCH -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 LEXMATCH -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18461 LEXMATCH -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615528 LEXMATCH -MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615529 LEXMATCH -MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18046 LEXMATCH -MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615529 LEXMATCH -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615530 LEXMATCH -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391411 LEXMATCH -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18462 LEXMATCH -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014233 LEXMATCH -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615530 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615537 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178307 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17079 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014234 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014234 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615537 LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178307 LEXMATCH -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15982 LEXMATCH -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615539 LEXMATCH -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615540 LEXMATCH -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22650 LEXMATCH -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615540 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391307 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17611 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615541 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014238 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014238 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615541 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391307 LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615541 LEXMATCH -MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615542 LEXMATCH -MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18360 LEXMATCH -MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615542 LEXMATCH -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 LEXMATCH -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615544 LEXMATCH -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 LEXMATCH -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15983 LEXMATCH -MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615544 LEXMATCH -MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615545 LEXMATCH -MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615545 LEXMATCH -MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615546 LEXMATCH -MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15984 LEXMATCH -MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615546 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398069 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13316 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014243 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014243 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398069 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi-like syndrome LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615547 LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615547 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615548 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391397 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12732 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014244 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014244 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615548 LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391397 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615550 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15985 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615550 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615550 LEXMATCH -MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615550 LEXMATCH -MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615551 LEXMATCH -MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18440 LEXMATCH -MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615551 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615552 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391392 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17619 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014247 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014247 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615552 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391392 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370943 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17604 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014248 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014248 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615553 LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370943 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615555 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397685 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17634 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014250 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014250 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615555 LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397685 LEXMATCH -MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615557 LEXMATCH -MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15986 LEXMATCH -MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615557 LEXMATCH -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615558 LEXMATCH -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2876 LEXMATCH -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615558 LEXMATCH -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615560 LEXMATCH -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16503 LEXMATCH -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615560 LEXMATCH -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615560 LEXMATCH -MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615560 LEXMATCH -MONDO:0014256 retinitis pigmentosa 67 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615565 LEXMATCH -MONDO:0014256 retinitis pigmentosa 67 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15988 LEXMATCH -MONDO:0014256 retinitis pigmentosa 67 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615565 LEXMATCH -MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615573 LEXMATCH -MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15989 LEXMATCH -MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615573 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615574 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391376 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17617 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615574 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014258 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014258 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615574 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391376 LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615574 LEXMATCH -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615575 LEXMATCH -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18265 LEXMATCH -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615575 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15990 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615577 LEXMATCH -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615577 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615578 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391348 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17615 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014261 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014261 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615578 LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391348 LEXMATCH -MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615582 LEXMATCH -MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12356 LEXMATCH -MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615582 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508488 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12814 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014263 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014263 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615583 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508488 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615583 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397787 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18468 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17641 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615592 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014267 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014267 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615592 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397787 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615592 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431149 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17710 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014268 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014268 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615593 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431149 LEXMATCH -MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615595 LEXMATCH -MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18466 LEXMATCH -MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615595 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615596 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370921 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17602 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615596 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014270 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014270 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615596 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370921 LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615596 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615597 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931007 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370924 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17603 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014271 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014271 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615597 LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370924 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140966 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16967 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014272 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014272 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615598 LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140966 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397951 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17645 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615599 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014273 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014273 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615599 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397951 LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615599 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615604 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440731 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17748 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014274 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014274 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615604 LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440731 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615605 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15991 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615605 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615605 LEXMATCH -MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615605 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615607 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169082 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17046 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014276 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014276 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615607 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169082 LEXMATCH -MONDO:0014278 immunodeficiency 18 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615615 LEXMATCH -MONDO:0014278 immunodeficiency 18 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18295 LEXMATCH -MONDO:0014278 immunodeficiency 18 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615615 LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18296 LEXMATCH -MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615617 LEXMATCH -MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615619 LEXMATCH -MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15992 LEXMATCH -MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615619 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615625 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401849 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17660 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014282 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014282 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615625 LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401849 LEXMATCH -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615629 LEXMATCH -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18137 LEXMATCH -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615629 LEXMATCH -MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 LEXMATCH -MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615630 LEXMATCH -MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 LEXMATCH -MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15993 LEXMATCH -MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615630 LEXMATCH -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 LEXMATCH -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615631 LEXMATCH -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 LEXMATCH -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15994 LEXMATCH -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615631 LEXMATCH -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615632 LEXMATCH -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15995 LEXMATCH -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615632 LEXMATCH -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615632 LEXMATCH -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615632 LEXMATCH -MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 LEXMATCH -MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15996 LEXMATCH -MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615633 LEXMATCH -MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 LEXMATCH -MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15996 LEXMATCH -MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615633 LEXMATCH -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 LEXMATCH -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15997 LEXMATCH -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615636 LEXMATCH -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 LEXMATCH -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15997 LEXMATCH -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615636 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397612 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17630 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014289 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014289 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615637 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397612 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615643 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397725 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12571 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coasy protein-associated neurodegeneration LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014290 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014290 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615643 LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397725 LEXMATCH -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615649 LEXMATCH -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18138 LEXMATCH -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615649 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615651 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363540 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17565 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014292 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014292 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615651 LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363540 LEXMATCH -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615654 LEXMATCH -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18139 LEXMATCH -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615654 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615656 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3180937 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261183 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10525 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014294 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014294 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615656 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261183 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615658 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431329 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17712 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014295 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014295 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615658 LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431329 LEXMATCH -MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615663 LEXMATCH -MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15998 LEXMATCH -MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615663 LEXMATCH -MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615663 LEXMATCH -MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615663 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15999 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615665 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615665 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615665 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 LEXMATCH -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615665 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615668 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439822 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17742 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pde4d haploinsufficiency syndrome LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014298 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014298 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615668 LEXMATCH -MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439822 LEXMATCH -MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 LEXMATCH -MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16000 LEXMATCH -MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615670 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615673 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401768 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12978 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615673 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014300 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014300 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615673 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401768 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615673 LEXMATCH -MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615674 LEXMATCH -MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16001 LEXMATCH -MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615674 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615681 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401785 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17657 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014302 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014302 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615681 LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401785 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615683 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401810 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17659 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014303 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014303 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615683 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401810 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615685 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401780 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17656 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014304 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014304 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615685 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401780 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615686 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401805 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17658 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 63 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014305 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014305 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615686 LEXMATCH -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401805 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615688 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404553 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12383 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014306 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014306 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615688 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404553 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 LEXMATCH -MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615696 LEXMATCH -MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16002 LEXMATCH -MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615696 LEXMATCH -MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615697 LEXMATCH -MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18281 LEXMATCH -MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615697 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615703 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397615 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17631 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014309 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014309 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615703 LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397615 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615704 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221043 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13218 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014310 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014310 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615704 LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221043 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615705 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404499 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17678 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615705 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014311 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014311 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615705 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404499 LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615705 LEXMATCH -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615706 LEXMATCH -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16003 LEXMATCH -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615706 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:437552 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17732 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615707 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014313 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014313 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615707 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:437552 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615707 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615709 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397927 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17642 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014314 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014314 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615709 LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397927 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615715 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401764 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17655 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014317 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014317 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615715 LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401764 LEXMATCH -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615716 LEXMATCH -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18352 LEXMATCH -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615716 LEXMATCH -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615716 LEXMATCH -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615716 LEXMATCH -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 LEXMATCH -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615721 LEXMATCH -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 LEXMATCH -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615721 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615722 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401777 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12903 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014320 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014320 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615722 LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401777 LEXMATCH -MONDO:0014323 retinitis pigmentosa 68 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615725 LEXMATCH -MONDO:0014323 retinitis pigmentosa 68 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16004 LEXMATCH -MONDO:0014323 retinitis pigmentosa 68 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615725 LEXMATCH -MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615726 LEXMATCH -MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16005 LEXMATCH -MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615726 LEXMATCH -MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615726 LEXMATCH -MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615726 LEXMATCH -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615728 LEXMATCH -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16006 LEXMATCH -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615728 LEXMATCH -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615728 LEXMATCH -MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615728 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16007 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16007 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16007 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16007 LEXMATCH -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615731 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615735 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402003 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17669 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014327 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014327 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615735 LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402003 LEXMATCH -MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615744 LEXMATCH -MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16008 LEXMATCH -MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615744 LEXMATCH -MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615744 LEXMATCH -MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615744 LEXMATCH -MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 LEXMATCH -MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18612 LEXMATCH -MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615745 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615750 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401945 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17664 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014331 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014331 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615750 LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401945 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615751 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401948 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13201 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014332 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014332 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615751 LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401948 LEXMATCH -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 LEXMATCH -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615752 LEXMATCH -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 LEXMATCH -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16009 LEXMATCH -MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615752 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280142 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17288 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014334 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014334 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615758 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280142 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615760 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404437 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17672 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014335 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014335 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615760 LEXMATCH -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404437 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615761 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404440 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17673 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014336 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014336 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615761 LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404440 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477661 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17852 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014338 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014338 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615767 LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477661 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615768 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412057 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17689 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615768 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to stub1 deficiency LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014339 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014339 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615768 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412057 LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615768 LEXMATCH -MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615770 LEXMATCH -MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16010 LEXMATCH -MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615770 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615774 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404466 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17675 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615774 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014342 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014342 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615774 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404466 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615774 LEXMATCH -MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615777 LEXMATCH -MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16466 LEXMATCH -MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615777 LEXMATCH -MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615777 LEXMATCH -MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615777 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615779 LEXMATCH -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615779 LEXMATCH -MONDO:0014345 retinitis pigmentosa 69 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615780 LEXMATCH -MONDO:0014345 retinitis pigmentosa 69 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16011 LEXMATCH -MONDO:0014345 retinitis pigmentosa 69 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615780 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16012 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615785 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615785 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615785 LEXMATCH -MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615802 LEXMATCH -MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22564 LEXMATCH -MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615802 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615803 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411493 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17680 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014349 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014349 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615803 LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411493 LEXMATCH -MONDO:0014350 Seckel syndrome 8 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615807 LEXMATCH -MONDO:0014350 Seckel syndrome 8 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16013 LEXMATCH -MONDO:0014350 Seckel syndrome 8 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615807 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615809 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369920 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17590 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014351 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014351 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615809 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369920 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443811 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4331 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615816 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014353 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014353 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615816 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443811 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615816 LEXMATCH -MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 LEXMATCH -MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22565 LEXMATCH -MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615817 LEXMATCH -MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615821 LEXMATCH -MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16014 LEXMATCH -MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615821 LEXMATCH -MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615821 LEXMATCH -MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615821 LEXMATCH -MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615824 LEXMATCH -MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16015 LEXMATCH -MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615824 LEXMATCH -MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615828 LEXMATCH -MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16467 LEXMATCH -MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615828 LEXMATCH -MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615828 LEXMATCH -MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615828 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615829 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412069 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13409 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615829 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014358 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014358 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615829 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412069 LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615829 LEXMATCH -MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615833 LEXMATCH -MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16017 LEXMATCH -MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615833 LEXMATCH -MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615833 LEXMATCH -MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615833 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615834 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352490 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17520 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014361 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014361 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615834 LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352490 LEXMATCH -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615837 LEXMATCH -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22651 LEXMATCH -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615837 LEXMATCH -MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615838 LEXMATCH -MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16018 LEXMATCH -MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615838 LEXMATCH -MONDO:0014365 spermatogenic failure 13 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615841 LEXMATCH -MONDO:0014365 spermatogenic failure 13 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16019 LEXMATCH -MONDO:0014365 spermatogenic failure 13 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615841 LEXMATCH -MONDO:0014366 spermatogenic failure 14 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615842 LEXMATCH -MONDO:0014366 spermatogenic failure 14 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16020 LEXMATCH -MONDO:0014366 spermatogenic failure 14 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615842 LEXMATCH -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615846 LEXMATCH -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16021 LEXMATCH -MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615846 LEXMATCH -MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615848 LEXMATCH -MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18582 LEXMATCH -MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615848 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615849 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420584 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13349 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014369 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014369 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615849 LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420584 LEXMATCH -MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615851 LEXMATCH -MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18348 LEXMATCH -MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615851 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615859 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411986 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17687 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615859 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014371 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014371 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615859 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411986 LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615859 LEXMATCH -MONDO:0014372 cone-rod dystrophy 19 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615860 LEXMATCH -MONDO:0014372 cone-rod dystrophy 19 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16022 LEXMATCH -MONDO:0014372 cone-rod dystrophy 19 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615860 LEXMATCH -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 LEXMATCH -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615861 LEXMATCH -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 LEXMATCH -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69061 LEXMATCH -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014373 LEXMATCH -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615861 LEXMATCH -MONDO:0014374 nephronophthisis 18 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615862 LEXMATCH -MONDO:0014374 nephronophthisis 18 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615862 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615863 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329242 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17500 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014375 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014375 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615863 LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329242 LEXMATCH -MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615866 LEXMATCH -MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16023 LEXMATCH -MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615866 LEXMATCH -MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615866 LEXMATCH -MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615866 LEXMATCH -MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615871 LEXMATCH -MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16024 LEXMATCH -MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615871 LEXMATCH -MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615871 LEXMATCH -MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615871 LEXMATCH -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615872 LEXMATCH -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16025 LEXMATCH -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615872 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615873 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404448 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12931 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adnp syndrome LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014379 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014379 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615873 LEXMATCH -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404448 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424099 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17707 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014380 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014380 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615877 LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424099 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615878 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480483 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9803 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014381 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014381 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615878 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480483 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79304 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18621 LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014381 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404443 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17674 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615879 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014382 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014382 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615879 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404443 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615879 LEXMATCH -MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 LEXMATCH -MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16026 LEXMATCH -MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615883 LEXMATCH -MONDO:0014384 hypotrichosis 12 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615885 LEXMATCH -MONDO:0014384 hypotrichosis 12 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16027 LEXMATCH -MONDO:0014384 hypotrichosis 12 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615885 LEXMATCH -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 LEXMATCH -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16028 LEXMATCH -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615887 LEXMATCH -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 LEXMATCH -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615887 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615888 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420566 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17695 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014386 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014386 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615888 LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420566 LEXMATCH -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 LEXMATCH -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615889 LEXMATCH -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 LEXMATCH -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18252 LEXMATCH -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615889 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401942 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17663 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014388 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014388 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615892 LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401942 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329173 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014389 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615895 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397937 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17643 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014389 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014389 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615895 LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397937 LEXMATCH -MONDO:0014390 hypotrichosis 13 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615896 LEXMATCH -MONDO:0014390 hypotrichosis 13 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16029 LEXMATCH -MONDO:0014390 hypotrichosis 13 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615896 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420573 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17696 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014391 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014391 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615897 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420573 LEXMATCH -MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615905 LEXMATCH -MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12901 LEXMATCH -MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615905 LEXMATCH -MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615905 LEXMATCH -MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615905 LEXMATCH -MONDO:0014393 lymphatic malformation 4 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615907 LEXMATCH -MONDO:0014393 lymphatic malformation 4 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16468 LEXMATCH -MONDO:0014393 lymphatic malformation 4 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615907 LEXMATCH -MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615909 LEXMATCH -MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16030 LEXMATCH -MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615909 LEXMATCH -MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615911 LEXMATCH -MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18397 LEXMATCH -MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615911 LEXMATCH -MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615916 LEXMATCH -MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16031 LEXMATCH -MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615916 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615917 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420728 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17699 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615917 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014397 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014397 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615917 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420728 LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615917 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615918 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420733 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17700 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014398 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014398 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615918 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420733 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438134 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17736 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pcna-related progressive neurodegenerative photosensitivity syndrome LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014399 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014399 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615919 LEXMATCH -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438134 LEXMATCH -MONDO:0014400 retinitis pigmentosa 70 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615922 LEXMATCH -MONDO:0014400 retinitis pigmentosa 70 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16032 LEXMATCH -MONDO:0014400 retinitis pigmentosa 70 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615922 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615923 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329191 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17495 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014401 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014401 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615923 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329191 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615924 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363400 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17552 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014402 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014402 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615924 LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363400 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615925 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314811 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17436 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014403 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014403 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615925 LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314811 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615934 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:425120 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12357 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014405 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014405 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615934 LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:425120 LEXMATCH -MONDO:0014406 pancreatic agenesis 2 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615935 LEXMATCH -MONDO:0014406 pancreatic agenesis 2 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16033 LEXMATCH -MONDO:0014406 pancreatic agenesis 2 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615935 LEXMATCH -MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615937 LEXMATCH -MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18078 LEXMATCH -MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615937 LEXMATCH -MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615937 LEXMATCH -MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615937 LEXMATCH -MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615938 LEXMATCH -MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18079 LEXMATCH -MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615938 LEXMATCH -MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 LEXMATCH -MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22566 LEXMATCH -MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615942 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615945 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363710 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12368 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615945 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014410 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014410 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615945 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363710 LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615945 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615947 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:535458 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17973 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014412 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014412 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615947 LEXMATCH -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:535458 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615948 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:434179 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13655 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014413 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014413 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615948 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:434179 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615952 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438159 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17737 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014414 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014414 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615952 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438159 LEXMATCH -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615954 LEXMATCH -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16034 LEXMATCH -MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615954 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423296 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12369 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014417 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014417 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615957 LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423296 LEXMATCH -MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615959 LEXMATCH -MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16035 LEXMATCH -MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615959 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615960 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370022 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17597 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014419 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014419 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615960 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370022 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615961 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140941 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16964 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014420 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014420 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615961 LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140941 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615962 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841972 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:786 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2499 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014421 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014421 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615962 LEXMATCH -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:786 LEXMATCH -MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615963 LEXMATCH -MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18425 LEXMATCH -MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615963 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317425 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17441 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615966 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014423 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014423 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615966 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317425 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615966 LEXMATCH -MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615972 LEXMATCH -MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18629 LEXMATCH -MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615972 LEXMATCH -MONDO:0014427 cone-rod dystrophy 20 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615973 LEXMATCH -MONDO:0014427 cone-rod dystrophy 20 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16036 LEXMATCH -MONDO:0014427 cone-rod dystrophy 20 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615973 LEXMATCH -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615974 LEXMATCH -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22652 LEXMATCH -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615974 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615978 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319581 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17461 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615978 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014429 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014429 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615978 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319581 LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615978 LEXMATCH -MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 LEXMATCH -MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22567 LEXMATCH -MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615979 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615980 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435660 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13126 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014431 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014431 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615980 LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435660 LEXMATCH -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615981 LEXMATCH -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:821 LEXMATCH -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome LEXMATCH -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615981 LEXMATCH -MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615982 LEXMATCH -MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:823 LEXMATCH -MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615982 LEXMATCH -MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615983 LEXMATCH -MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10204 LEXMATCH -MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615983 LEXMATCH -MONDO:0014435 Bardet-Biedl syndrome 7 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615984 LEXMATCH -MONDO:0014435 Bardet-Biedl syndrome 7 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10206 LEXMATCH -MONDO:0014435 Bardet-Biedl syndrome 7 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615984 LEXMATCH -MONDO:0014436 Bardet-Biedl syndrome 8 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615985 LEXMATCH -MONDO:0014436 Bardet-Biedl syndrome 8 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10207 LEXMATCH -MONDO:0014436 Bardet-Biedl syndrome 8 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615985 LEXMATCH -MONDO:0014437 Bardet-Biedl syndrome 9 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615986 LEXMATCH -MONDO:0014437 Bardet-Biedl syndrome 9 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10208 LEXMATCH -MONDO:0014437 Bardet-Biedl syndrome 9 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615986 LEXMATCH -MONDO:0014438 Bardet-Biedl syndrome 10 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615987 LEXMATCH -MONDO:0014438 Bardet-Biedl syndrome 10 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10209 LEXMATCH -MONDO:0014438 Bardet-Biedl syndrome 10 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615987 LEXMATCH -MONDO:0014439 Bardet-Biedl syndrome 11 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615988 LEXMATCH -MONDO:0014439 Bardet-Biedl syndrome 11 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10210 LEXMATCH -MONDO:0014439 Bardet-Biedl syndrome 11 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615988 LEXMATCH -MONDO:0014440 Bardet-Biedl syndrome 12 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615989 LEXMATCH -MONDO:0014440 Bardet-Biedl syndrome 12 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10211 LEXMATCH -MONDO:0014440 Bardet-Biedl syndrome 12 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615989 LEXMATCH -MONDO:0014441 Bardet-Biedl syndrome 13 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615990 LEXMATCH -MONDO:0014441 Bardet-Biedl syndrome 13 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16037 LEXMATCH -MONDO:0014441 Bardet-Biedl syndrome 13 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615990 LEXMATCH -MONDO:0014441 Bardet-Biedl syndrome 13 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615990 LEXMATCH -MONDO:0014441 Bardet-Biedl syndrome 13 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615990 LEXMATCH -MONDO:0014442 Bardet-Biedl syndrome 14 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615991 LEXMATCH -MONDO:0014442 Bardet-Biedl syndrome 14 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16038 LEXMATCH -MONDO:0014442 Bardet-Biedl syndrome 14 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615991 LEXMATCH -MONDO:0014443 Bardet-Biedl syndrome 15 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615992 LEXMATCH -MONDO:0014443 Bardet-Biedl syndrome 15 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16039 LEXMATCH -MONDO:0014443 Bardet-Biedl syndrome 15 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615992 LEXMATCH -MONDO:0014444 Bardet-Biedl syndrome 16 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615993 LEXMATCH -MONDO:0014444 Bardet-Biedl syndrome 16 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16040 LEXMATCH -MONDO:0014444 Bardet-Biedl syndrome 16 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615993 LEXMATCH -MONDO:0014445 Bardet-Biedl syndrome 17 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615994 LEXMATCH -MONDO:0014445 Bardet-Biedl syndrome 17 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16041 LEXMATCH -MONDO:0014445 Bardet-Biedl syndrome 17 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615994 LEXMATCH -MONDO:0014446 Bardet-Biedl syndrome 18 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615995 LEXMATCH -MONDO:0014446 Bardet-Biedl syndrome 18 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16042 LEXMATCH -MONDO:0014446 Bardet-Biedl syndrome 18 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615995 LEXMATCH -MONDO:0014447 Bardet-Biedl syndrome 19 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615996 LEXMATCH -MONDO:0014447 Bardet-Biedl syndrome 19 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16043 LEXMATCH -MONDO:0014447 Bardet-Biedl syndrome 19 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615996 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616000 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86816 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13056 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014449 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014449 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616000 LEXMATCH -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86816 LEXMATCH -MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616001 LEXMATCH -MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16044 LEXMATCH -MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616001 LEXMATCH -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616002 LEXMATCH -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:656 LEXMATCH -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16045 LEXMATCH -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014451 LEXMATCH -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616002 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98881 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014452 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014452 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616004 LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98881 LEXMATCH -MONDO:0014453 immunodeficiency 36 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616005 LEXMATCH -MONDO:0014453 immunodeficiency 36 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16046 LEXMATCH -MONDO:0014453 immunodeficiency 36 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616005 LEXMATCH -MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616006 LEXMATCH -MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16047 LEXMATCH -MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616006 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616007 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436174 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17727 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014455 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014455 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616007 LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436174 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423384 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17702 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014456 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014456 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616022 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423384 LEXMATCH -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 LEXMATCH -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18353 LEXMATCH -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616025 LEXMATCH -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616025 LEXMATCH -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616025 LEXMATCH -MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16048 LEXMATCH -MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616028 LEXMATCH -MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16049 LEXMATCH -MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616028 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616029 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423454 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17703 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014460 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014460 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616029 LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423454 LEXMATCH -MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616030 LEXMATCH -MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16050 LEXMATCH -MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616030 LEXMATCH -MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616032 LEXMATCH -MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16051 LEXMATCH -MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616032 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616034 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857252 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431361 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10327 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616034 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014464 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014464 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616034 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431361 LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616034 LEXMATCH -MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616037 LEXMATCH -MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16052 LEXMATCH -MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616037 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616038 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616038 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583602 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22335 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014466 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014466 LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583602 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616039 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435998 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17723 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014467 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014467 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616039 LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435998 LEXMATCH -MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 LEXMATCH -MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616040 LEXMATCH -MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 LEXMATCH -MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16053 LEXMATCH -MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616040 LEXMATCH -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616042 LEXMATCH -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22653 LEXMATCH -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616042 LEXMATCH -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616044 LEXMATCH -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18140 LEXMATCH -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616044 LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254913 LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18649 LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex v deficiency LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label isolated atp synthase deficiency LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014471 LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014471 LEXMATCH -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254913 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616050 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436166 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17725 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014472 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014472 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616050 LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436166 LEXMATCH -MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616051 LEXMATCH -MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16054 LEXMATCH -MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616051 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616052 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352479 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17519 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616052 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014474 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014474 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616052 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352479 LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616052 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616053 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423275 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12371 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014475 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014475 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616053 LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423275 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616055 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401953 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17665 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic ataxia with slurred speech LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014476 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014476 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616055 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401953 LEXMATCH -MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616056 LEXMATCH -MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12391 LEXMATCH -MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616056 LEXMATCH -MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616056 LEXMATCH -MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616056 LEXMATCH -MONDO:0014478 mirror movements 3 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616059 LEXMATCH -MONDO:0014478 mirror movements 3 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16055 LEXMATCH -MONDO:0014478 mirror movements 3 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616059 LEXMATCH -MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616063 LEXMATCH -MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16056 LEXMATCH -MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616063 LEXMATCH -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616067 LEXMATCH -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18361 LEXMATCH -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616067 LEXMATCH -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616069 LEXMATCH -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18430 LEXMATCH -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616069 LEXMATCH -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616069 LEXMATCH -MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616069 LEXMATCH -MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616078 LEXMATCH -MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13379 LEXMATCH -MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616078 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616079 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397758 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17640 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014483 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014483 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616079 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397758 LEXMATCH -MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616080 LEXMATCH -MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16057 LEXMATCH -MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616080 LEXMATCH -MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 LEXMATCH -MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16058 LEXMATCH -MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616081 LEXMATCH -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 LEXMATCH -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13136 LEXMATCH -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616083 LEXMATCH -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 LEXMATCH -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13136 LEXMATCH -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616083 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616084 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369861 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17586 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014487 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014487 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616084 LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369861 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:445110 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17769 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014489 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014489 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616094 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:445110 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616095 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438075 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17733 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014490 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014490 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616095 LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438075 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420686 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17697 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014492 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014492 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616099 LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420686 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616100 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436159 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12316 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014493 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014493 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616100 LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436159 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16059 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616106 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616108 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436245 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17730 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014495 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014495 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616108 LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436245 LEXMATCH -MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616111 LEXMATCH -MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16060 LEXMATCH -MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616111 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616113 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:453533 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17787 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014497 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014497 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616113 LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:453533 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16061 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616115 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576349 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18014 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014498 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014498 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616115 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576349 LEXMATCH -MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 LEXMATCH -MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22568 LEXMATCH -MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616116 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616117 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436242 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17729 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616117 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014500 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014500 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616117 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436242 LEXMATCH -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616117 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319563 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17458 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014502 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014502 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616126 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319563 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616127 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:453521 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17786 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to cwf19l1 deficiency LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014503 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014503 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616127 LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:453521 LEXMATCH -MONDO:0014504 Perrault syndrome 5 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616138 LEXMATCH -MONDO:0014504 Perrault syndrome 5 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16062 LEXMATCH -MONDO:0014504 Perrault syndrome 5 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616138 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616139 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16063 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616139 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616139 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616139 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616139 LEXMATCH -MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616139 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616140 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438114 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17734 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014506 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014506 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616140 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438114 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1388 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:28 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014507 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014507 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616145 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1388 LEXMATCH -MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616151 LEXMATCH -MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16064 LEXMATCH -MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616151 LEXMATCH -MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616152 LEXMATCH -MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16065 LEXMATCH -MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616152 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438178 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13319 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase 1 disorder LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014510 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014510 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616154 LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438178 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616155 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443073 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17751 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014511 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014511 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616155 LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443073 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616158 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438216 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17740 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014512 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014512 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616158 LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438216 LEXMATCH -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 LEXMATCH -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16066 LEXMATCH -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616165 LEXMATCH -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 LEXMATCH -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16066 LEXMATCH -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616165 LEXMATCH -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616166 LEXMATCH -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16067 LEXMATCH -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616166 LEXMATCH -MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616172 LEXMATCH -MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18668 LEXMATCH -MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616172 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616176 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438207 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17738 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014518 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014518 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616176 LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438207 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616185 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444048 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17760 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014520 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014520 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616185 LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444048 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616187 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435438 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17715 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014521 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014521 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616187 LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435438 LEXMATCH -MONDO:0014522 retinal dystrophy and obesity skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616188 LEXMATCH -MONDO:0014522 retinal dystrophy and obesity skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616188 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616192 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:445062 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17768 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014523 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014523 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616192 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:445062 LEXMATCH -MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 LEXMATCH -MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22569 LEXMATCH -MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616193 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616198 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444013 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17759 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014525 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014525 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616198 LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444013 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616199 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:456369 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17793 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014526 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014526 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616199 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:456369 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616200 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435953 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17722 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014527 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014527 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616200 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435953 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616201 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435988 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12281 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic atrial and intestinal dysrhythmia syndrome LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014528 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014528 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616201 LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435988 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444072 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17761 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014529 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014529 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616202 LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444072 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616204 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363432 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17557 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to grid2 deficiency LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014530 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014530 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616204 LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363432 LEXMATCH -MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616208 LEXMATCH -MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16068 LEXMATCH -MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616208 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616209 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457050 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17794 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014532 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014532 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616209 LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457050 LEXMATCH -MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616211 LEXMATCH -MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16069 LEXMATCH -MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616211 LEXMATCH -MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616211 LEXMATCH -MONDO:0014533 developmental and epileptic encephalopathy, 28 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616211 LEXMATCH -MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616212 LEXMATCH -MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616212 LEXMATCH -MONDO:0014536 thrombocytopenia 5 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616216 LEXMATCH -MONDO:0014536 thrombocytopenia 5 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616216 LEXMATCH -MONDO:0014537 nephronophthisis 19 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616217 LEXMATCH -MONDO:0014537 nephronophthisis 19 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18081 LEXMATCH -MONDO:0014537 nephronophthisis 19 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616217 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18164 LEXMATCH -MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616219 LEXMATCH -MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616220 LEXMATCH -MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16070 LEXMATCH -MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616220 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16071 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16071 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254516 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13431 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014541 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014541 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254516 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616222 LEXMATCH -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616222 LEXMATCH -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 LEXMATCH -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18453 LEXMATCH -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616227 LEXMATCH -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 LEXMATCH -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616227 LEXMATCH -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 LEXMATCH -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18454 LEXMATCH -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616228 LEXMATCH -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 LEXMATCH -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616228 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216812 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16072 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014544 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616229 LEXMATCH -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616229 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616230 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424027 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17706 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014545 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014545 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616230 LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424027 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616231 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88635 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16770 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014546 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014546 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616231 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88635 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616239 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444458 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17765 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014547 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014547 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616239 LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444458 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16073 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014548 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616247 LEXMATCH -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616247 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16074 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014550 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616249 LEXMATCH -MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616249 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439897 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17743 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014552 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014552 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616258 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439897 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616258 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616265 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263548 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17258 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014555 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014555 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616265 LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263548 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18622 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616266 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18622 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616266 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562528 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16075 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014556 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014556 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616266 LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562528 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459033 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13111 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616267 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014557 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014557 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616267 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:459033 LEXMATCH -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616267 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616268 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457193 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17797 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616268 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014558 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014558 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616268 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457193 LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616268 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457212 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17798 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014559 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014559 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616269 LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457212 LEXMATCH -MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 LEXMATCH -MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16076 LEXMATCH -MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616270 LEXMATCH -MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 LEXMATCH -MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616270 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:445038 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17767 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014561 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014561 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616271 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:445038 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616276 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457185 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17796 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014562 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014562 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616276 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457185 LEXMATCH -MONDO:0014565 cataract 43 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616279 LEXMATCH -MONDO:0014565 cataract 43 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616279 LEXMATCH -MONDO:0014565 cataract 43 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0014565 cataract 43 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014565 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616280 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397735 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17638 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014566 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014566 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616280 LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:closeMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397735 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477673 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17853 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014567 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014567 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477673 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616281 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616282 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444099 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17763 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616282 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014568 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014568 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616282 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444099 LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:closeMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616282 LEXMATCH -MONDO:0014569 lethal congenital contracture syndrome 7 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616286 LEXMATCH -MONDO:0014569 lethal congenital contracture syndrome 7 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18564 LEXMATCH -MONDO:0014569 lethal congenital contracture syndrome 7 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616286 LEXMATCH -MONDO:0014570 lethal congenital contracture syndrome 8 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616287 LEXMATCH -MONDO:0014570 lethal congenital contracture syndrome 8 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18565 LEXMATCH -MONDO:0014570 lethal congenital contracture syndrome 8 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616287 LEXMATCH -MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616289 LEXMATCH -MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18199 LEXMATCH -MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616289 LEXMATCH -MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616289 LEXMATCH -MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616289 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616291 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448251 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17780 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616291 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive autosomal recessive ataxia-deafness syndrome LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014572 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014572 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616291 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448251 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616291 LEXMATCH -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616294 LEXMATCH -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16077 LEXMATCH -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616294 LEXMATCH -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616294 LEXMATCH -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616294 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444138 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17764 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014574 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014574 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616295 LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444138 LEXMATCH -MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616298 LEXMATCH -MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16078 LEXMATCH -MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616298 LEXMATCH -MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616298 LEXMATCH -MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616298 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616299 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401862 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12680 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616299 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014576 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014576 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616299 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401862 LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616299 LEXMATCH -MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616300 LEXMATCH -MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16079 LEXMATCH -MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616300 LEXMATCH -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 LEXMATCH -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616304 LEXMATCH -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 LEXMATCH -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16080 LEXMATCH -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616304 LEXMATCH -MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616307 LEXMATCH -MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16081 LEXMATCH -MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616307 LEXMATCH -MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616311 LEXMATCH -MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2514 LEXMATCH -MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16082 LEXMATCH -MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014580 LEXMATCH -MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616311 LEXMATCH -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 LEXMATCH -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616313 LEXMATCH -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 LEXMATCH -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9895 LEXMATCH -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616313 LEXMATCH -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 LEXMATCH -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616314 LEXMATCH -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 LEXMATCH -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16083 LEXMATCH -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616314 LEXMATCH -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 LEXMATCH -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616321 LEXMATCH -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 LEXMATCH -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16084 LEXMATCH -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616321 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16085 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616322 LEXMATCH -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616322 LEXMATCH -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 LEXMATCH -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616323 LEXMATCH -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 LEXMATCH -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16086 LEXMATCH -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616323 LEXMATCH -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 LEXMATCH -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616324 LEXMATCH -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 LEXMATCH -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16087 LEXMATCH -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616324 LEXMATCH -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 LEXMATCH -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616325 LEXMATCH -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 LEXMATCH -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16088 LEXMATCH -MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616325 LEXMATCH -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 LEXMATCH -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616326 LEXMATCH -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 LEXMATCH -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16089 LEXMATCH -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616326 LEXMATCH -MONDO:0014589 maturity-onset diabetes of the young type 13 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616329 LEXMATCH -MONDO:0014589 maturity-onset diabetes of the young type 13 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16090 LEXMATCH -MONDO:0014589 maturity-onset diabetes of the young type 13 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616329 LEXMATCH -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 LEXMATCH -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616330 LEXMATCH -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 LEXMATCH -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16091 LEXMATCH -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616330 LEXMATCH -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 LEXMATCH -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18548 LEXMATCH -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616331 LEXMATCH -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 LEXMATCH -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616331 LEXMATCH -MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616335 LEXMATCH -MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18482 LEXMATCH -MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616335 LEXMATCH -MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616339 LEXMATCH -MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16092 LEXMATCH -MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616339 LEXMATCH -MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616339 LEXMATCH -MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616339 LEXMATCH -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616340 LEXMATCH -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18141 LEXMATCH -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616340 LEXMATCH -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616340 LEXMATCH -MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616340 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16093 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16093 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16093 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616341 LEXMATCH -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616341 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16094 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16094 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616346 LEXMATCH -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616346 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16095 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616353 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3322 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16095 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014600 LEXMATCH -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616353 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616354 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397709 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17636 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616354 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014601 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014601 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616354 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397709 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616354 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616355 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457279 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17802 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014602 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014602 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616355 LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457279 LEXMATCH -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616357 LEXMATCH -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18142 LEXMATCH -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616357 LEXMATCH -MONDO:0014604 Parkinson disease 21 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616361 LEXMATCH -MONDO:0014604 Parkinson disease 21 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18480 LEXMATCH -MONDO:0014604 Parkinson disease 21 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616361 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616362 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457284 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17803 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014605 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014605 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616362 LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457284 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616364 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468678 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13774 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014606 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014606 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616364 LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468678 LEXMATCH -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616366 LEXMATCH -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16096 LEXMATCH -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616366 LEXMATCH -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616366 LEXMATCH -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616366 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616367 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443995 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17758 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014608 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014608 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616367 LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443995 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616368 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444077 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12845 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014609 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014609 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616368 LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444077 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616370 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457406 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17809 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014611 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014611 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616370 LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457406 LEXMATCH -MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 LEXMATCH -MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16097 LEXMATCH -MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616371 LEXMATCH -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 LEXMATCH -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16098 LEXMATCH -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616373 LEXMATCH -MONDO:0014614 congenital stationary night blindness 1G skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616389 LEXMATCH -MONDO:0014614 congenital stationary night blindness 1G skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16099 LEXMATCH -MONDO:0014614 congenital stationary night blindness 1G skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616389 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616390 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16100 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616390 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616390 LEXMATCH -MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616390 LEXMATCH -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616393 LEXMATCH -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16469 LEXMATCH -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616393 LEXMATCH -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616393 LEXMATCH -MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616393 LEXMATCH -MONDO:0014618 retinitis pigmentosa 71 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616394 LEXMATCH -MONDO:0014618 retinitis pigmentosa 71 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16101 LEXMATCH -MONDO:0014618 retinitis pigmentosa 71 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616394 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16102 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616395 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616395 LEXMATCH -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616395 LEXMATCH -MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616398 LEXMATCH -MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16103 LEXMATCH -MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616398 LEXMATCH -MONDO:0014621 Brugada syndrome 9 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616399 LEXMATCH -MONDO:0014621 Brugada syndrome 9 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16104 LEXMATCH -MONDO:0014621 Brugada syndrome 9 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616399 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448264 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18488 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17781 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014622 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014622 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616400 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448264 LEXMATCH -MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616402 LEXMATCH -MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16105 LEXMATCH -MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616402 LEXMATCH -MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616402 LEXMATCH -MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616402 LEXMATCH -MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616409 LEXMATCH -MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16106 LEXMATCH -MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616409 LEXMATCH -MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616409 LEXMATCH -MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616409 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616410 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458798 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17810 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014626 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014626 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616410 LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458798 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616411 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464440 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17819 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt27 type LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014627 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014627 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616411 LEXMATCH -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464440 LEXMATCH -MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616413 LEXMATCH -MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16107 LEXMATCH -MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616413 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444092 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17762 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014629 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014629 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616414 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444092 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616415 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454840 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17790 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014630 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014630 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616415 LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454840 LEXMATCH -MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616420 LEXMATCH -MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616420 LEXMATCH -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616421 LEXMATCH -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16108 LEXMATCH -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae LEXMATCH -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616421 LEXMATCH -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 LEXMATCH -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16109 LEXMATCH -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616425 LEXMATCH -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 LEXMATCH -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16109 LEXMATCH -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616425 LEXMATCH -MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616428 LEXMATCH -MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16110 LEXMATCH -MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616428 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616430 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447954 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17775 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014636 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014636 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616430 LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447954 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447737 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12653 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014637 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014637 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616433 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447737 LEXMATCH -MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616435 LEXMATCH -MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16111 LEXMATCH -MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616435 LEXMATCH -MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616436 LEXMATCH -MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16112 LEXMATCH -MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616436 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16113 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616437 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16113 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616437 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:803 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16113 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014640 LEXMATCH -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616437 LEXMATCH -MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616439 LEXMATCH -MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18398 LEXMATCH -MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616439 LEXMATCH -MONDO:0014642 candidiasis, familial, 9 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616445 LEXMATCH -MONDO:0014642 candidiasis, familial, 9 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16114 LEXMATCH -MONDO:0014642 candidiasis, familial, 9 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616445 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616449 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464738 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17821 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014643 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014643 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616449 LEXMATCH -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464738 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616451 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468661 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17842 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 74 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014644 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014644 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616451 LEXMATCH -MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468661 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616452 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464336 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13339 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014645 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014645 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616452 LEXMATCH -MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464336 LEXMATCH -MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616455 LEXMATCH -MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16115 LEXMATCH -MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616455 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616457 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448010 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13621 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616457 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014647 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014647 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616457 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448010 LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616457 LEXMATCH -MONDO:0014648 Al-Raqad syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616459 LEXMATCH -MONDO:0014648 Al-Raqad syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616459 LEXMATCH -MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 LEXMATCH -MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22570 LEXMATCH -MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616460 LEXMATCH -MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616461 LEXMATCH -MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16116 LEXMATCH -MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616461 LEXMATCH -MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616462 LEXMATCH -MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16117 LEXMATCH -MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616462 LEXMATCH -MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616468 LEXMATCH -MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16118 LEXMATCH -MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616468 LEXMATCH -MONDO:0014653 retinitis pigmentosa 72 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616469 LEXMATCH -MONDO:0014653 retinitis pigmentosa 72 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16119 LEXMATCH -MONDO:0014653 retinitis pigmentosa 72 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616469 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616470 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16120 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616470 LEXMATCH -MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616479 LEXMATCH -MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18450 LEXMATCH -MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616479 LEXMATCH -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 LEXMATCH -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16122 LEXMATCH -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616481 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616482 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85165 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9443 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014658 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014658 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616482 LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85165 LEXMATCH -MONDO:0014659 infantile liver failure syndrome 2 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616483 LEXMATCH -MONDO:0014659 infantile liver failure syndrome 2 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13113 LEXMATCH -MONDO:0014659 infantile liver failure syndrome 2 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616483 LEXMATCH -MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616486 LEXMATCH -MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16123 LEXMATCH -MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616486 LEXMATCH -MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616486 LEXMATCH -MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616486 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616488 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:478664 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17866 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014662 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014662 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616488 LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:478664 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18463 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616489 LEXMATCH -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616489 LEXMATCH -MONDO:0014664 Joubert syndrome 23 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616490 LEXMATCH -MONDO:0014664 Joubert syndrome 23 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16124 LEXMATCH -MONDO:0014664 Joubert syndrome 23 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616490 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616491 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447964 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17777 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014665 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014665 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616491 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447964 LEXMATCH -MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616494 LEXMATCH -MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18088 LEXMATCH -MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616494 LEXMATCH -MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616500 LEXMATCH -MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18572 LEXMATCH -MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616500 LEXMATCH -MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616500 LEXMATCH -MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616500 LEXMATCH -MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616501 LEXMATCH -MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18573 LEXMATCH -MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616501 LEXMATCH -MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616501 LEXMATCH -MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616501 LEXMATCH -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616502 LEXMATCH -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16125 LEXMATCH -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616502 LEXMATCH -MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616505 LEXMATCH -MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18092 LEXMATCH -MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616505 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216820 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16126 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014672 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616507 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 LEXMATCH -MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616507 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616509 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16127 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014673 LEXMATCH -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616509 LEXMATCH -MONDO:0014674 maturity-onset diabetes of the young type 14 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616511 LEXMATCH -MONDO:0014674 maturity-onset diabetes of the young type 14 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16128 LEXMATCH -MONDO:0014674 maturity-onset diabetes of the young type 14 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616511 LEXMATCH -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616515 LEXMATCH -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22654 LEXMATCH -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616515 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18209 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616516 LEXMATCH -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616516 LEXMATCH -MONDO:0014677 achromatopsia 7 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616517 LEXMATCH -MONDO:0014677 achromatopsia 7 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16129 LEXMATCH -MONDO:0014677 achromatopsia 7 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616517 LEXMATCH -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616521 LEXMATCH -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616521 LEXMATCH -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616521 LEXMATCH -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616521 LEXMATCH -MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 LEXMATCH -MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616531 LEXMATCH -MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 LEXMATCH -MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16130 LEXMATCH -MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616531 LEXMATCH -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616532 LEXMATCH -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16131 LEXMATCH -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616532 LEXMATCH -MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616534 LEXMATCH -MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16132 LEXMATCH -MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616534 LEXMATCH -MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616535 LEXMATCH -MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16133 LEXMATCH -MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616535 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370997 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014683 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616538 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:899 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16134 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014683 LEXMATCH -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616538 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616539 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477684 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17854 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014684 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014684 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616539 LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477684 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616540 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457265 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17801 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014685 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014685 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616540 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457265 LEXMATCH -MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616541 LEXMATCH -MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18483 LEXMATCH -MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616541 LEXMATCH -MONDO:0014687 retinitis pigmentosa 73 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616544 LEXMATCH -MONDO:0014687 retinitis pigmentosa 73 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16135 LEXMATCH -MONDO:0014687 retinitis pigmentosa 73 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616544 LEXMATCH -MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616546 LEXMATCH -MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18467 LEXMATCH -MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616546 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616549 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447974 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17778 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014689 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014689 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616549 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447974 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3322 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16136 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014690 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616553 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16136 LEXMATCH -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616553 LEXMATCH -MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616559 LEXMATCH -MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16137 LEXMATCH -MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616559 LEXMATCH -MONDO:0014692 retinitis pigmentosa 74 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616562 LEXMATCH -MONDO:0014692 retinitis pigmentosa 74 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16138 LEXMATCH -MONDO:0014692 retinitis pigmentosa 74 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616562 LEXMATCH -MONDO:0014693 Noonan syndrome 10 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616564 LEXMATCH -MONDO:0014693 Noonan syndrome 10 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16139 LEXMATCH -MONDO:0014693 Noonan syndrome 10 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616564 LEXMATCH -MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616566 LEXMATCH -MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:12807 LEXMATCH -MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616566 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251627 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014695 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616568 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251630 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014695 LEXMATCH -MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616568 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16140 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616570 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 LEXMATCH -MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616570 LEXMATCH -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 LEXMATCH -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16141 LEXMATCH -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616576 LEXMATCH -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616576 LEXMATCH -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616576 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616577 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457351 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17804 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616577 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014698 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014698 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616577 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457351 LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616577 LEXMATCH -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616579 LEXMATCH -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13539 LEXMATCH -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616579 LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616277 LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616277 LEXMATCH +MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565736 LEXMATCH MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604916 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616580 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:453504 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13418 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014700 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014700 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616580 LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:453504 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616583 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459051 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17812 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014701 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014701 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616583 LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:459051 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616586 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447760 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17770 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616586 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014702 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014702 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616586 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447760 LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616586 LEXMATCH -MONDO:0014703 Adams-Oliver syndrome 6 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616589 LEXMATCH -MONDO:0014703 Adams-Oliver syndrome 6 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16142 LEXMATCH -MONDO:0014703 Adams-Oliver syndrome 6 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616589 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616592 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477831 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17860 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616592 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014704 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014704 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616592 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477831 LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616592 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18048 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616602 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616602 LEXMATCH -MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616602 LEXMATCH -MONDO:0014706 cutis laxa, autosomal dominant 3 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616603 LEXMATCH -MONDO:0014706 cutis laxa, autosomal dominant 3 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16143 LEXMATCH -MONDO:0014706 cutis laxa, autosomal dominant 3 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616603 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616604 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488280 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17890 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014707 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014707 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616604 LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488280 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616606 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1440 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6072 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 14 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 14 syndrome LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014708 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014708 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616606 LEXMATCH -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1440 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616622 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477857 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17861 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014710 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014710 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616622 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477857 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616625 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488333 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17891 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014711 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014711 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616625 LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488333 LEXMATCH -MONDO:0014712 Senior-Loken syndrome 9 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616629 LEXMATCH -MONDO:0014712 Senior-Loken syndrome 9 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16145 LEXMATCH -MONDO:0014712 Senior-Loken syndrome 9 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616629 LEXMATCH -MONDO:0014713 porokeratosis 9, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616631 LEXMATCH -MONDO:0014713 porokeratosis 9, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16146 LEXMATCH -MONDO:0014713 porokeratosis 9, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616631 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616632 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477814 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17858 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014714 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014714 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616632 LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477814 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616636 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431166 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17711 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014715 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014715 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616636 LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431166 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616638 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457485 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13636 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014716 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014716 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616638 LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457485 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616640 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324290 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17482 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014717 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014717 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616640 LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324290 LEXMATCH -MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616645 LEXMATCH -MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16147 LEXMATCH -MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616645 LEXMATCH -MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616645 LEXMATCH -MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616645 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616647 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457375 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17806 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616647 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014719 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014719 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616647 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457375 LEXMATCH -MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616647 LEXMATCH -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1215 LEXMATCH -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5243 LEXMATCH -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014720 LEXMATCH -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014720 LEXMATCH -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1215 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616651 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846059 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353298 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9163 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014722 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014722 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616651 LEXMATCH -MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353298 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616652 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477817 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17859 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014723 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014723 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616652 LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477817 LEXMATCH -MONDO:0014724 Joubert syndrome 24 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616654 LEXMATCH -MONDO:0014724 Joubert syndrome 24 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16150 LEXMATCH -MONDO:0014724 Joubert syndrome 24 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616654 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616657 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447997 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13425 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616657 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014725 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014725 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616657 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447997 LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616657 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616668 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466775 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17830 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive charcot-marie-tooth disease type 2x LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014726 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014726 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616668 LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466775 LEXMATCH -MONDO:0014727 immunodeficiency 45 skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616669 LEXMATCH -MONDO:0014727 immunodeficiency 45 skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616669 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616672 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477774 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17856 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014728 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014728 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616672 LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477774 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616680 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459056 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17813 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014729 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014729 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616680 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:459056 LEXMATCH -MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616681 LEXMATCH -MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16151 LEXMATCH -MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616681 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616682 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466926 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17836 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014731 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014731 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616682 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466926 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616683 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466934 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17837 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vps11-related autosomal recessive hypomyelinating leukodystrophy LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014732 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014732 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616683 LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466934 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616684 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391351 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17616 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014733 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014733 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616684 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391351 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616687 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435387 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17714 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2y LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014735 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014735 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616687 LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435387 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616688 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466768 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17829 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2z LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014736 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014736 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616688 LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466768 LEXMATCH -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616689 LEXMATCH -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16152 LEXMATCH -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616689 LEXMATCH -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616697 LEXMATCH -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18143 LEXMATCH -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616697 LEXMATCH -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616705 LEXMATCH -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22655 LEXMATCH -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616705 LEXMATCH -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616707 LEXMATCH -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18144 LEXMATCH -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616707 LEXMATCH -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616707 LEXMATCH -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616707 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466950 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17839 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014741 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014741 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616708 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466950 LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616708 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616716 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468717 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13320 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014743 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014743 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616716 LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468717 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616719 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466794 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17833 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014744 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014744 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616719 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466794 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616720 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16153 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616720 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16153 LEXMATCH -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616720 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616721 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468699 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17846 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014746 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014746 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616721 LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468699 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616722 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488197 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17888 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014747 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014747 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616722 LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488197 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616723 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457395 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17808 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014748 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014748 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616723 LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457395 LEXMATCH -MONDO:0014749 tooth agenesis, selective, 7 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616724 LEXMATCH -MONDO:0014749 tooth agenesis, selective, 7 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18249 LEXMATCH -MONDO:0014749 tooth agenesis, selective, 7 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616724 LEXMATCH -MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616726 LEXMATCH -MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16154 LEXMATCH -MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616726 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616728 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477993 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17862 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616728 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014751 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014751 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616728 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477993 LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616728 LEXMATCH -MONDO:0014752 nephrotic syndrome, type 11 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616730 LEXMATCH -MONDO:0014752 nephrotic syndrome, type 11 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16155 LEXMATCH -MONDO:0014752 nephrotic syndrome, type 11 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616730 LEXMATCH -MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616733 LEXMATCH -MONDO:0014754 primary coenzyme Q10 deficiency 8 skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616733 LEXMATCH -MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616734 LEXMATCH -MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16156 LEXMATCH -MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616734 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616737 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:487796 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17884 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616737 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014757 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014757 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616737 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:487796 LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616737 LEXMATCH -MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616738 LEXMATCH -MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18069 LEXMATCH -MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616738 LEXMATCH -MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616739 LEXMATCH -MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22571 LEXMATCH -MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616739 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476113 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17849 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency due to tfrc deficiency LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014760 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014760 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616740 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476113 LEXMATCH -MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616749 LEXMATCH -MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616749 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616756 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464282 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17816 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014764 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014764 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616756 LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464282 LEXMATCH -MONDO:0014765 wooly hair, autosomal recessive 3 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616760 LEXMATCH -MONDO:0014765 wooly hair, autosomal recessive 3 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16157 LEXMATCH -MONDO:0014765 wooly hair, autosomal recessive 3 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616760 LEXMATCH -MONDO:0014767 Seckel syndrome 9 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616777 LEXMATCH -MONDO:0014767 Seckel syndrome 9 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16158 LEXMATCH -MONDO:0014767 Seckel syndrome 9 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616777 LEXMATCH -MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616779 LEXMATCH -MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616779 LEXMATCH -MONDO:0014770 Joubert syndrome 25 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616781 LEXMATCH -MONDO:0014770 Joubert syndrome 25 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16159 LEXMATCH -MONDO:0014770 Joubert syndrome 25 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616781 LEXMATCH -MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616784 LEXMATCH -MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16160 LEXMATCH -MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616784 LEXMATCH -MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616784 LEXMATCH -MONDO:0014771 Joubert syndrome 26 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616784 LEXMATCH -MONDO:0014772 orofacial cleft 15 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616788 LEXMATCH -MONDO:0014772 orofacial cleft 15 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18307 LEXMATCH -MONDO:0014772 orofacial cleft 15 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616788 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616789 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369891 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17588 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014773 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014773 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616789 LEXMATCH -MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome skos:closeMatch Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369891 LEXMATCH -MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616792 LEXMATCH -MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16161 LEXMATCH -MONDO:0014774 neuroblastoma, susceptibility to, 7 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616792 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616794 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466784 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17831 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014775 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014775 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616794 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:closeMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466784 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616795 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458803 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17811 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014776 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014776 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616795 LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:closeMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458803 LEXMATCH -MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616801 LEXMATCH -MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18458 LEXMATCH -MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616801 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616803 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616803 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616803 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616803 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530983 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22211 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014778 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014778 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:closeMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530983 LEXMATCH -MONDO:0014779 Wilms tumor 6 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616806 LEXMATCH -MONDO:0014779 Wilms tumor 6 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16162 LEXMATCH -MONDO:0014779 Wilms tumor 6 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616806 LEXMATCH -MONDO:0014779 Wilms tumor 6 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616806 LEXMATCH -MONDO:0014779 Wilms tumor 6 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616806 LEXMATCH -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616809 LEXMATCH -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18354 LEXMATCH -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616809 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616811 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:478029 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17863 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014781 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014781 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616811 LEXMATCH -MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch Orphanet:478029 Combined oxidative phosphorylation defect type 29 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:478029 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616812 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476084 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17847 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014782 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014782 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616812 LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476084 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616816 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:467176 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17840 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014784 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014784 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616816 LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:467176 LEXMATCH -MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616817 LEXMATCH -MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18460 LEXMATCH -MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616817 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616819 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466688 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17824 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014787 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014787 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616819 LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466688 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616828 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468684 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17845 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014789 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014789 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616828 LEXMATCH -MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468684 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616829 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466703 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17825 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014790 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014790 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616829 LEXMATCH -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466703 LEXMATCH -MONDO:0014791 Luscan-Lumish syndrome skos:closeMatch Orphanet:597738 Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597738 LEXMATCH -MONDO:0014791 Luscan-Lumish syndrome skos:closeMatch Orphanet:597738 Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13789 LEXMATCH -MONDO:0014791 Luscan-Lumish syndrome skos:closeMatch Orphanet:597738 Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014791 LEXMATCH -MONDO:0014791 Luscan-Lumish syndrome skos:closeMatch Orphanet:597738 Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014791 LEXMATCH -MONDO:0014791 Luscan-Lumish syndrome skos:closeMatch Orphanet:597738 Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597738 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616834 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488168 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17886 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014793 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014793 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616834 LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488168 LEXMATCH -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616835 LEXMATCH -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16163 LEXMATCH -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616835 LEXMATCH -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616835 LEXMATCH -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616835 LEXMATCH -MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616840 LEXMATCH -MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18610 LEXMATCH -MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616840 LEXMATCH -MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616840 LEXMATCH -MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616840 LEXMATCH -MONDO:0014797 lymphatic malformation 6 skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou LEXMATCH -MONDO:0014798 brachydactyly type A1D skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616849 LEXMATCH -MONDO:0014798 brachydactyly type A1D skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16164 LEXMATCH -MONDO:0014798 brachydactyly type A1D skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616849 LEXMATCH -MONDO:0014799 cataract 45 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616851 LEXMATCH -MONDO:0014799 cataract 45 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616851 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616852 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447977 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17779 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014800 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014800 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616852 LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:closeMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447977 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616854 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496751 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17913 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014801 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014801 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616854 LEXMATCH -MONDO:0014801 even-plus syndrome skos:closeMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496751 LEXMATCH -MONDO:0014802 Cowden syndrome 7 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616858 LEXMATCH -MONDO:0014802 Cowden syndrome 7 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16470 LEXMATCH -MONDO:0014802 Cowden syndrome 7 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616858 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616859 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401866 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12681 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset spasticity with hyperglycinemia LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014803 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014803 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616859 LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:closeMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401866 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616860 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255132 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17235 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616860 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014804 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014804 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616860 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255132 LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:closeMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616860 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17920 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616863 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616863 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616863 LEXMATCH +MONDO:0014700 Au-Kline syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c565736 LEXMATCH MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 LEXMATCH MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616863 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:643549 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014805 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014805 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616863 LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:643549 LEXMATCH -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616866 LEXMATCH -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:4947 LEXMATCH -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616866 LEXMATCH -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616866 LEXMATCH -MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616866 LEXMATCH -MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616867 LEXMATCH -MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18495 LEXMATCH -MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616867 LEXMATCH -MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616867 LEXMATCH -MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616867 LEXMATCH -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616868 LEXMATCH -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18261 LEXMATCH -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616868 LEXMATCH -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616868 LEXMATCH -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616868 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616871 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488647 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17899 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616871 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014809 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014809 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616871 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488647 LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616871 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616873 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317473 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17442 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014810 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014810 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616873 LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317473 LEXMATCH -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 LEXMATCH -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616875 LEXMATCH -MONDO:0014813 hypomyelinating leukodystrophy 13 skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616881 LEXMATCH -MONDO:0014813 hypomyelinating leukodystrophy 13 skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616881 LEXMATCH -MONDO:0014814 advanced sleep phase syndrome 3 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616882 LEXMATCH -MONDO:0014814 advanced sleep phase syndrome 3 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16165 LEXMATCH -MONDO:0014814 advanced sleep phase syndrome 3 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616882 LEXMATCH -MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616887 LEXMATCH -MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22572 LEXMATCH -MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616887 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616890 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488232 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17889 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014816 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014816 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616890 LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488232 LEXMATCH -MONDO:0014817 nephrotic syndrome, type 12 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616892 LEXMATCH -MONDO:0014817 nephrotic syndrome, type 12 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16166 LEXMATCH -MONDO:0014817 nephrotic syndrome, type 12 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616892 LEXMATCH -MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616893 LEXMATCH -MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16167 LEXMATCH -MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616893 LEXMATCH -MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616893 LEXMATCH -MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616893 LEXMATCH -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 LEXMATCH -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18549 LEXMATCH -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616894 LEXMATCH -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 LEXMATCH -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616894 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616897 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457378 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17807 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616897 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014821 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014821 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616897 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457378 LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616897 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616898 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261190 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17242 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014822 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014822 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616898 LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261190 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616900 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488632 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17896 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014823 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014823 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616900 LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488632 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616907 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488594 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17892 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014827 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014827 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616907 LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488594 LEXMATCH -MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616910 LEXMATCH -MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16168 LEXMATCH -MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616910 LEXMATCH -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616911 LEXMATCH -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16169 LEXMATCH -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616911 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616913 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466806 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18491 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17835 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014830 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014830 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616913 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466806 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616914 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300382 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17371 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014831 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014831 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616914 LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300382 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616917 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488635 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18502 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17897 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014832 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014832 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616917 LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:closeMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488635 LEXMATCH -MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616922 LEXMATCH -MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616922 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616937 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480851 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17870 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014837 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014837 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616937 LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:closeMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480851 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616938 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16170 LEXMATCH -MONDO:0014838 Coffin-Siris syndrome 5 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616938 LEXMATCH -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 LEXMATCH -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616941 LEXMATCH -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 LEXMATCH -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16171 LEXMATCH -MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616941 LEXMATCH -MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616943 LEXMATCH -MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16172 LEXMATCH -MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616943 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616949 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404493 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17677 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014846 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014846 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616949 LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:closeMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404493 LEXMATCH -MONDO:0014847 spermatogenic failure 15 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616950 LEXMATCH -MONDO:0014847 spermatogenic failure 15 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16173 LEXMATCH -MONDO:0014847 spermatogenic failure 15 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616950 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616954 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488642 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17898 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014848 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014848 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616954 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488642 LEXMATCH -MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616963 LEXMATCH -MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18435 LEXMATCH -MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616963 LEXMATCH -MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616963 LEXMATCH -MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616963 LEXMATCH -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 LEXMATCH -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18145 LEXMATCH -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616968 LEXMATCH -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616969 LEXMATCH -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18146 LEXMATCH -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616969 LEXMATCH -MONDO:0014855 intellectual disability, autosomal dominant 42 skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616973 LEXMATCH -MONDO:0014855 intellectual disability, autosomal dominant 42 skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18501 LEXMATCH -MONDO:0014855 intellectual disability, autosomal dominant 42 skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616973 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616974 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:478042 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17864 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014856 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014856 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616974 LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:478042 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616975 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494344 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17902 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014857 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014857 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616975 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494344 LEXMATCH -MONDO:0014858 intellectual disability, autosomal dominant 43 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616977 LEXMATCH -MONDO:0014858 intellectual disability, autosomal dominant 43 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13179 LEXMATCH -MONDO:0014858 intellectual disability, autosomal dominant 43 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616977 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16174 LEXMATCH -MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617004 LEXMATCH -MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617008 LEXMATCH -MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18310 LEXMATCH -MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617008 LEXMATCH -MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617011 LEXMATCH -MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617011 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617013 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521406 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17958 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617013 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014864 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014864 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617013 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521406 LEXMATCH -MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617013 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420702 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17698 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014865 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014865 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617014 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420702 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443950 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18653 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disease type 2 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014866 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014866 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443950 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar-cmt2t LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disease type 2t LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617017 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617017 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617017 LEXMATCH -MONDO:0014867 spinocerebellar ataxia 43 skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:497764 LEXMATCH -MONDO:0014867 spinocerebellar ataxia 43 skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17917 LEXMATCH -MONDO:0014867 spinocerebellar ataxia 43 skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014867 LEXMATCH -MONDO:0014867 spinocerebellar ataxia 43 skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014867 LEXMATCH -MONDO:0014867 spinocerebellar ataxia 43 skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:497764 LEXMATCH -MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617020 LEXMATCH -MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16175 LEXMATCH -MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617020 LEXMATCH -MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617020 LEXMATCH -MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617020 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617021 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:528091 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17966 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014869 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014869 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617021 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:528091 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617022 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464366 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17818 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617022 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014870 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014870 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617022 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464366 LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617022 LEXMATCH -MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617023 LEXMATCH -MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16176 LEXMATCH -MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617023 LEXMATCH -MONDO:0014872 congenital stationary night blindness 1H skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617024 LEXMATCH -MONDO:0014872 congenital stationary night blindness 1H skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16177 LEXMATCH -MONDO:0014872 congenital stationary night blindness 1H skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617024 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617025 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265987 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64754 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13073 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617025 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014873 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014873 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617025 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64754 LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617025 LEXMATCH -MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 LEXMATCH -MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16178 LEXMATCH -MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617026 LEXMATCH -MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch Orphanet:642671 Familial hyperaldosteronism type IV semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014875 LEXMATCH -MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch Orphanet:642671 Familial hyperaldosteronism type IV semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014875 LEXMATCH -MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617028 LEXMATCH -MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22573 LEXMATCH -MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617028 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617030 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:482601 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17878 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617030 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014877 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014877 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617030 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:482601 LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617030 LEXMATCH -MONDO:0014878 patent ductus arteriosus 2 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617035 LEXMATCH -MONDO:0014878 patent ductus arteriosus 2 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18489 LEXMATCH -MONDO:0014878 patent ductus arteriosus 2 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617035 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10691 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617041 LEXMATCH -MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617041 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617044 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488618 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17894 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014881 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014881 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617044 LEXMATCH -MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488618 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617046 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466722 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17827 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 77 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014882 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014882 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617046 LEXMATCH -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466722 LEXMATCH -MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617047 LEXMATCH -MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617047 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617049 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480476 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17867 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014884 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014884 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617049 LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480476 LEXMATCH -MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 LEXMATCH -MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16180 LEXMATCH -MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617050 LEXMATCH -MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 LEXMATCH -MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617050 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617051 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488627 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17895 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617051 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014886 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014886 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617051 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488627 LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617051 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617053 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494433 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13108 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617053 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014888 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014888 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617053 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494433 LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:closeMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617053 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617054 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:497906 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17918 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617054 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014889 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014889 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617054 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:497906 LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:closeMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617054 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617055 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18278 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617055 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617055 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617055 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603684 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22435 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014890 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014890 LEXMATCH -MONDO:0014890 PERCHING syndrome skos:closeMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603684 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617061 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476126 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17850 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617061 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014892 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014892 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617061 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476126 LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:closeMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617061 LEXMATCH -MONDO:0014894 Meier-Gorlin syndrome 7 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617063 LEXMATCH -MONDO:0014894 Meier-Gorlin syndrome 7 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16181 LEXMATCH -MONDO:0014894 Meier-Gorlin syndrome 7 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617063 LEXMATCH -MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617065 LEXMATCH -MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16182 LEXMATCH -MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617065 LEXMATCH -MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617065 LEXMATCH -MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617065 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617066 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:486815 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17883 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014896 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014896 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617066 LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:486815 LEXMATCH -MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617069 LEXMATCH -MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16183 LEXMATCH -MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617069 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617070 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329314 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17501 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014899 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014899 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617070 LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329314 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617072 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424261 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17708 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014900 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014900 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617072 LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424261 LEXMATCH -MONDO:0014901 tooth agenesis, selective, 8 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617073 LEXMATCH -MONDO:0014901 tooth agenesis, selective, 8 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18250 LEXMATCH -MONDO:0014901 tooth agenesis, selective, 8 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617073 LEXMATCH -MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617075 LEXMATCH -MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16184 LEXMATCH -MONDO:0014902 nasopharyngeal carcinoma, susceptibility to, 3 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617075 LEXMATCH -MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617080 LEXMATCH -MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16506 LEXMATCH -MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617080 LEXMATCH -MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617080 LEXMATCH -MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617080 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617086 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485421 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17881 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014905 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014905 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617086 LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485421 LEXMATCH -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 LEXMATCH -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16185 LEXMATCH -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617088 LEXMATCH -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 LEXMATCH -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16185 LEXMATCH -MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617088 LEXMATCH -MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617090 LEXMATCH -MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16186 LEXMATCH -MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617090 LEXMATCH -MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617090 LEXMATCH -MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617090 LEXMATCH -MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617091 LEXMATCH -MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16187 LEXMATCH -MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617091 LEXMATCH -MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617092 LEXMATCH -MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16188 LEXMATCH -MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617092 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617093 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:541423 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17980 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014911 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014911 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617093 LEXMATCH -MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:541423 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617099 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500062 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13198 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014912 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014912 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617099 LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500062 LEXMATCH -MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 LEXMATCH -MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617101 LEXMATCH -MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617102 LEXMATCH -MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16189 LEXMATCH -MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617102 LEXMATCH -MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617102 LEXMATCH -MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617102 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16190 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16190 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617105 LEXMATCH -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617105 LEXMATCH -MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617106 LEXMATCH -MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16191 LEXMATCH -MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617106 LEXMATCH -MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617106 LEXMATCH -MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617106 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617107 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500095 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17921 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thauvin-robinet-faivre syndrome LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014918 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014918 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617107 LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500095 LEXMATCH -MONDO:0014919 sessile serrated polyposis cancer syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617108 LEXMATCH -MONDO:0014919 sessile serrated polyposis cancer syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617108 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617111 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466718 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17826 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014920 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014920 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617111 LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466718 LEXMATCH -MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617113 LEXMATCH -MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16192 LEXMATCH -MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617113 LEXMATCH -MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617113 LEXMATCH -MONDO:0014921 developmental and epileptic encephalopathy, 43 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617113 LEXMATCH -MONDO:0014922 myofibrillar myopathy 7 skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617114 LEXMATCH -MONDO:0014922 myofibrillar myopathy 7 skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617114 LEXMATCH -MONDO:0014923 peeling skin syndrome 5 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617115 LEXMATCH -MONDO:0014923 peeling skin syndrome 5 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18427 LEXMATCH -MONDO:0014923 peeling skin syndrome 5 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617115 LEXMATCH -MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617116 LEXMATCH -MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18203 LEXMATCH -MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617116 LEXMATCH -MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617118 LEXMATCH -MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18204 LEXMATCH -MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617118 LEXMATCH -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617119 LEXMATCH -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16193 LEXMATCH -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617119 LEXMATCH -MONDO:0014927 Joubert syndrome 27 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617120 LEXMATCH -MONDO:0014927 Joubert syndrome 27 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16194 LEXMATCH -MONDO:0014927 Joubert syndrome 27 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617120 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16195 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16195 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617121 LEXMATCH -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617121 LEXMATCH -MONDO:0014929 retinitis pigmentosa 76 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617123 LEXMATCH -MONDO:0014929 retinitis pigmentosa 76 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16196 LEXMATCH -MONDO:0014929 retinitis pigmentosa 76 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617123 LEXMATCH -MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617125 LEXMATCH -MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22574 LEXMATCH -MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617125 LEXMATCH -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617127 LEXMATCH -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16197 LEXMATCH -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617127 LEXMATCH -MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617132 LEXMATCH -MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16198 LEXMATCH -MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617132 LEXMATCH -MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617132 LEXMATCH -MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617132 LEXMATCH -MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617137 LEXMATCH -MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16199 LEXMATCH -MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617137 LEXMATCH -MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617137 LEXMATCH -MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617137 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617140 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500150 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13489 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014936 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014936 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617140 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500150 LEXMATCH -MONDO:0014937 aniridia 2 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617141 LEXMATCH -MONDO:0014937 aniridia 2 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16200 LEXMATCH -MONDO:0014937 aniridia 2 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617141 LEXMATCH -MONDO:0014938 aniridia 3 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617142 LEXMATCH -MONDO:0014938 aniridia 3 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16201 LEXMATCH -MONDO:0014938 aniridia 3 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617142 LEXMATCH -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 LEXMATCH -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617143 LEXMATCH -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 LEXMATCH -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16202 LEXMATCH -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617143 LEXMATCH -MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617153 LEXMATCH -MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16203 LEXMATCH -MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617153 LEXMATCH -MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617153 LEXMATCH -MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617153 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617157 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464288 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17817 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617157 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014944 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014944 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617157 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464288 LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617157 LEXMATCH -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617158 LEXMATCH -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16204 LEXMATCH -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617158 LEXMATCH -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617158 LEXMATCH -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617158 LEXMATCH -MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617162 LEXMATCH -MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16205 LEXMATCH -MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617162 LEXMATCH -MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617162 LEXMATCH -MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617162 LEXMATCH -MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617166 LEXMATCH -MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16206 LEXMATCH -MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617166 LEXMATCH -MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617166 LEXMATCH -MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617166 LEXMATCH -MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617168 LEXMATCH -MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16207 LEXMATCH -MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617168 LEXMATCH -MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 LEXMATCH -MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16208 LEXMATCH -MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617169 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617171 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468620 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13474 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617171 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014952 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014952 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617171 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468620 LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617171 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617173 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542306 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17982 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014953 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014953 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617173 LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542306 LEXMATCH -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 LEXMATCH -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16209 LEXMATCH -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617174 LEXMATCH -MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617175 LEXMATCH -MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18241 LEXMATCH -MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617175 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496790 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17915 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617183 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014958 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014958 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617183 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496790 LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617183 LEXMATCH -MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617187 LEXMATCH -MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome LEXMATCH -MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617187 LEXMATCH -MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617188 LEXMATCH -MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22575 LEXMATCH -MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617188 LEXMATCH -MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 LEXMATCH -MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617201 LEXMATCH -MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 LEXMATCH -MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16210 LEXMATCH -MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617201 LEXMATCH -MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617205 LEXMATCH -MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617205 LEXMATCH -MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617207 LEXMATCH -MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617207 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617213 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440713 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18652 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014969 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014969 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617213 LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440713 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16211 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617217 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617217 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617225 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:513436 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17952 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617225 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014975 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014975 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617225 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:513436 LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617225 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617228 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:478049 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17865 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014976 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014976 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617228 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:478049 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617232 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480682 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17869 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014977 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0014977 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617232 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480682 LEXMATCH -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 LEXMATCH -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617239 LEXMATCH -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 LEXMATCH -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16212 LEXMATCH -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617239 LEXMATCH -MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617243 LEXMATCH -MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16213 LEXMATCH -MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617243 LEXMATCH -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617244 LEXMATCH -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16214 LEXMATCH -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617244 LEXMATCH -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617244 LEXMATCH -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617244 LEXMATCH -MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617247 LEXMATCH -MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16215 LEXMATCH -MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617247 LEXMATCH -MONDO:0014989 uncombable hair syndrome 2 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617251 LEXMATCH -MONDO:0014989 uncombable hair syndrome 2 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16216 LEXMATCH -MONDO:0014989 uncombable hair syndrome 2 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617251 LEXMATCH -MONDO:0014990 uncombable hair syndrome 3 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617252 LEXMATCH -MONDO:0014990 uncombable hair syndrome 3 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16217 LEXMATCH -MONDO:0014990 uncombable hair syndrome 3 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617252 LEXMATCH -MONDO:0014991 Seckel syndrome 10 skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617253 LEXMATCH -MONDO:0014991 Seckel syndrome 10 skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18484 LEXMATCH -MONDO:0014991 Seckel syndrome 10 skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617253 LEXMATCH -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 LEXMATCH -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617271 LEXMATCH -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 LEXMATCH -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18181 LEXMATCH -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617271 LEXMATCH -MONDO:0014998 glaucoma 3, primary congenital, E skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617272 LEXMATCH -MONDO:0014998 glaucoma 3, primary congenital, E skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18227 LEXMATCH -MONDO:0014998 glaucoma 3, primary congenital, E skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617272 LEXMATCH -MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617276 LEXMATCH -MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16218 LEXMATCH -MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617276 LEXMATCH -MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617276 LEXMATCH -MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617276 LEXMATCH -MONDO:0015001 atrial fibrillation, familial, 18 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617280 LEXMATCH -MONDO:0015001 atrial fibrillation, familial, 18 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16219 LEXMATCH -MONDO:0015001 atrial fibrillation, familial, 18 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617280 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617282 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508093 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13488 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015003 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015003 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617282 LEXMATCH -MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508093 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch Orphanet:589618 Dystonia 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589618 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch Orphanet:589618 Dystonia 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22359 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch Orphanet:589618 Dystonia 28 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015004 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch Orphanet:589618 Dystonia 28 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015004 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch Orphanet:589618 Dystonia 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589618 LEXMATCH -MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617290 LEXMATCH -MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617290 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617294 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508529 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17951 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015006 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015006 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617294 LEXMATCH -MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508529 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617296 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521390 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17957 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015007 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015007 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617296 LEXMATCH -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521390 LEXMATCH -MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617297 LEXMATCH -MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16220 LEXMATCH -MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617297 LEXMATCH -MONDO:0015009 lymphatic malformation 7 skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617300 LEXMATCH -MONDO:0015009 lymphatic malformation 7 skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617300 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617301 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289863 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17334 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015010 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015010 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617301 LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289863 LEXMATCH -MONDO:0015011 optic atrophy 11 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617302 LEXMATCH -MONDO:0015011 optic atrophy 11 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18201 LEXMATCH -MONDO:0015011 optic atrophy 11 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617302 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617303 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505248 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17944 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617303 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015012 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015012 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617303 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505248 LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617303 LEXMATCH -MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617304 LEXMATCH -MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16221 LEXMATCH -MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617304 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617306 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603494 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18021 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015014 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015014 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617306 LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603494 LEXMATCH -MONDO:0015016 anterior segment dysgenesis 6 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617315 LEXMATCH -MONDO:0015016 anterior segment dysgenesis 6 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617315 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519388 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17954 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015017 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015017 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617319 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519388 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 LEXMATCH -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617319 LEXMATCH -MONDO:0015023 MYPN-related myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617336 LEXMATCH -MONDO:0015023 MYPN-related myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16222 LEXMATCH -MONDO:0015023 MYPN-related myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617336 LEXMATCH -MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617337 LEXMATCH -MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18593 LEXMATCH -MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617337 LEXMATCH -MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617341 LEXMATCH -MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18442 LEXMATCH -MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617341 LEXMATCH -MONDO:0015027 familial isolated hyperparathyroidism skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99879 LEXMATCH -MONDO:0015027 familial isolated hyperparathyroidism skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16923 LEXMATCH -MONDO:0015027 familial isolated hyperparathyroidism skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015027 LEXMATCH -MONDO:0015027 familial isolated hyperparathyroidism skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015027 LEXMATCH -MONDO:0015027 familial isolated hyperparathyroidism skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99879 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048230 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936741 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:10 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5677 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015028 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015028 LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:10 LEXMATCH -MONDO:0015029 reticular perineurioma skos:closeMatch Orphanet:100000 Reticular perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100000 LEXMATCH -MONDO:0015029 reticular perineurioma skos:closeMatch Orphanet:100000 Reticular perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19728 LEXMATCH -MONDO:0015029 reticular perineurioma skos:closeMatch Orphanet:100000 Reticular perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015029 LEXMATCH -MONDO:0015029 reticular perineurioma skos:closeMatch Orphanet:100000 Reticular perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015029 LEXMATCH -MONDO:0015029 reticular perineurioma skos:closeMatch Orphanet:100000 Reticular perineurioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100000 LEXMATCH -MONDO:0015030 sclerosing perineurioma skos:closeMatch Orphanet:100001 Sclerosing perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100001 LEXMATCH -MONDO:0015030 sclerosing perineurioma skos:closeMatch Orphanet:100001 Sclerosing perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19729 LEXMATCH -MONDO:0015030 sclerosing perineurioma skos:closeMatch Orphanet:100001 Sclerosing perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015030 LEXMATCH -MONDO:0015030 sclerosing perineurioma skos:closeMatch Orphanet:100001 Sclerosing perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015030 LEXMATCH -MONDO:0015030 sclerosing perineurioma skos:closeMatch Orphanet:100001 Sclerosing perineurioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100001 LEXMATCH -MONDO:0015031 extraneural perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100002 LEXMATCH -MONDO:0015031 extraneural perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19730 LEXMATCH -MONDO:0015031 extraneural perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015031 LEXMATCH -MONDO:0015031 extraneural perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015031 LEXMATCH -MONDO:0015031 extraneural perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100002 LEXMATCH -MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370658 LEXMATCH -MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100003 LEXMATCH -MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10921 LEXMATCH -MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015032 LEXMATCH -MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015032 LEXMATCH -MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100003 LEXMATCH -MONDO:0015033 ABeta amyloidosis, dutch type skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100006 LEXMATCH -MONDO:0015033 ABeta amyloidosis, dutch type skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16929 LEXMATCH -MONDO:0015033 ABeta amyloidosis, dutch type skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015033 LEXMATCH -MONDO:0015033 ABeta amyloidosis, dutch type skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015033 LEXMATCH -MONDO:0015033 ABeta amyloidosis, dutch type skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100006 LEXMATCH -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:closeMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100011 LEXMATCH -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:closeMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19731 LEXMATCH -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:closeMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015034 LEXMATCH -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:closeMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015034 LEXMATCH -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:closeMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100011 LEXMATCH -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:closeMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100012 LEXMATCH -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:closeMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19732 LEXMATCH -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:closeMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015035 LEXMATCH -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:closeMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015035 LEXMATCH -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:closeMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100012 LEXMATCH -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:closeMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100013 LEXMATCH -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:closeMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19733 LEXMATCH -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:closeMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015036 LEXMATCH -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:closeMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015036 LEXMATCH -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:closeMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100013 LEXMATCH -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:closeMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100014 LEXMATCH -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:closeMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19734 LEXMATCH -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:closeMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015037 LEXMATCH -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:closeMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015037 LEXMATCH -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:closeMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100014 LEXMATCH -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:closeMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100015 LEXMATCH -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:closeMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19735 LEXMATCH -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:closeMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015038 LEXMATCH -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:closeMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015038 LEXMATCH -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:closeMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100015 LEXMATCH -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:closeMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100016 LEXMATCH -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:closeMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19736 LEXMATCH -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:closeMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015039 LEXMATCH -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:closeMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015039 LEXMATCH -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:closeMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100016 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318550 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100019 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19737 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 1 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015040 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015040 LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100019 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318551 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100020 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19738 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 2 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015041 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015041 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100020 LEXMATCH -MONDO:0015042 primary plasmacytoma of the bone skos:closeMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100021 LEXMATCH -MONDO:0015042 primary plasmacytoma of the bone skos:closeMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19739 LEXMATCH -MONDO:0015042 primary plasmacytoma of the bone skos:closeMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015042 LEXMATCH -MONDO:0015042 primary plasmacytoma of the bone skos:closeMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015042 LEXMATCH -MONDO:0015042 primary plasmacytoma of the bone skos:closeMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100021 LEXMATCH -MONDO:0015043 extramedullary soft tissue plasmacytoma skos:closeMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100022 LEXMATCH -MONDO:0015043 extramedullary soft tissue plasmacytoma skos:closeMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19740 LEXMATCH -MONDO:0015043 extramedullary soft tissue plasmacytoma skos:closeMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015043 LEXMATCH -MONDO:0015043 extramedullary soft tissue plasmacytoma skos:closeMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015043 LEXMATCH -MONDO:0015043 extramedullary soft tissue plasmacytoma skos:closeMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100022 LEXMATCH -MONDO:0015044 mu-heavy chain disease skos:closeMatch Orphanet:100024 Mu-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100024 LEXMATCH -MONDO:0015044 mu-heavy chain disease skos:closeMatch Orphanet:100024 Mu-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19741 LEXMATCH -MONDO:0015044 mu-heavy chain disease skos:closeMatch Orphanet:100024 Mu-heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015044 LEXMATCH -MONDO:0015044 mu-heavy chain disease skos:closeMatch Orphanet:100024 Mu-heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015044 LEXMATCH -MONDO:0015044 mu-heavy chain disease skos:closeMatch Orphanet:100024 Mu-heavy chain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100024 LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021071 LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100025 LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19742 LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015045 LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015045 LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100025 LEXMATCH -MONDO:0015046 gamma-heavy chain disease skos:closeMatch Orphanet:100026 Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100026 LEXMATCH -MONDO:0015046 gamma-heavy chain disease skos:closeMatch Orphanet:100026 Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10346 LEXMATCH -MONDO:0015046 gamma-heavy chain disease skos:closeMatch Orphanet:100026 Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015046 LEXMATCH -MONDO:0015046 gamma-heavy chain disease skos:closeMatch Orphanet:100026 Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015046 LEXMATCH -MONDO:0015046 gamma-heavy chain disease skos:closeMatch Orphanet:100026 Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100026 LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100031 LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:645 LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015047 LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015047 LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100031 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100033 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8349 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015048 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015048 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100033 LEXMATCH -MONDO:0015049 solitary necrotic nodule of the liver skos:closeMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100035 LEXMATCH -MONDO:0015049 solitary necrotic nodule of the liver skos:closeMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19743 LEXMATCH -MONDO:0015049 solitary necrotic nodule of the liver skos:closeMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015049 LEXMATCH -MONDO:0015049 solitary necrotic nodule of the liver skos:closeMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015049 LEXMATCH -MONDO:0015049 solitary necrotic nodule of the liver skos:closeMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100035 LEXMATCH -MONDO:0015050 esophageal duplication cyst skos:closeMatch Orphanet:100047 Esophageal duplication cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100047 LEXMATCH -MONDO:0015050 esophageal duplication cyst skos:closeMatch Orphanet:100047 Esophageal duplication cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19744 LEXMATCH -MONDO:0015050 esophageal duplication cyst skos:closeMatch Orphanet:100047 Esophageal duplication cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015050 LEXMATCH -MONDO:0015050 esophageal duplication cyst skos:closeMatch Orphanet:100047 Esophageal duplication cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015050 LEXMATCH -MONDO:0015050 esophageal duplication cyst skos:closeMatch Orphanet:100047 Esophageal duplication cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100047 LEXMATCH -MONDO:0015051 tubular duplication of the esophagus skos:closeMatch Orphanet:100048 Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100048 LEXMATCH -MONDO:0015051 tubular duplication of the esophagus skos:closeMatch Orphanet:100048 Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19745 LEXMATCH -MONDO:0015051 tubular duplication of the esophagus skos:closeMatch Orphanet:100048 Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015051 LEXMATCH -MONDO:0015051 tubular duplication of the esophagus skos:closeMatch Orphanet:100048 Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015051 LEXMATCH -MONDO:0015051 tubular duplication of the esophagus skos:closeMatch Orphanet:100048 Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100048 LEXMATCH -MONDO:0015053 hereditary angioedema type 1 skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100050 LEXMATCH -MONDO:0015053 hereditary angioedema type 1 skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16933 LEXMATCH -MONDO:0015053 hereditary angioedema type 1 skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015053 LEXMATCH -MONDO:0015053 hereditary angioedema type 1 skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015053 LEXMATCH -MONDO:0015053 hereditary angioedema type 1 skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100050 LEXMATCH -MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100051 LEXMATCH -MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16934 LEXMATCH -MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015054 LEXMATCH -MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015054 LEXMATCH -MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100051 LEXMATCH -MONDO:0015055 acquired angioedema type 2 skos:closeMatch Orphanet:100055 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100055 LEXMATCH -MONDO:0015055 acquired angioedema type 2 skos:closeMatch Orphanet:100055 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19747 LEXMATCH -MONDO:0015055 acquired angioedema type 2 skos:closeMatch Orphanet:100055 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015055 LEXMATCH -MONDO:0015055 acquired angioedema type 2 skos:closeMatch Orphanet:100055 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015055 LEXMATCH -MONDO:0015055 acquired angioedema type 2 skos:closeMatch Orphanet:100055 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100055 LEXMATCH -MONDO:0015056 acquired angioedema type 1 skos:closeMatch Orphanet:100056 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100056 LEXMATCH -MONDO:0015056 acquired angioedema type 1 skos:closeMatch Orphanet:100056 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19748 LEXMATCH -MONDO:0015056 acquired angioedema type 1 skos:closeMatch Orphanet:100056 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015056 LEXMATCH -MONDO:0015056 acquired angioedema type 1 skos:closeMatch Orphanet:100056 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015056 LEXMATCH -MONDO:0015056 acquired angioedema type 1 skos:closeMatch Orphanet:100056 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100056 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100057 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16936 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015057 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015057 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100057 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029542 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100070 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10793 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015059 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015059 LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100070 LEXMATCH -MONDO:0015060 mosaic trisomy 3 skos:closeMatch Orphanet:100071 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100071 LEXMATCH -MONDO:0015060 mosaic trisomy 3 skos:closeMatch Orphanet:100071 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5342 LEXMATCH -MONDO:0015060 mosaic trisomy 3 skos:closeMatch Orphanet:100071 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015060 LEXMATCH -MONDO:0015060 mosaic trisomy 3 skos:closeMatch Orphanet:100071 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015060 LEXMATCH -MONDO:0015060 mosaic trisomy 3 skos:closeMatch Orphanet:100071 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100071 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751549 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100073 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19749 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015061 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015061 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100073 LEXMATCH -MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100076 Duodenal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19751 LEXMATCH -MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100076 Duodenal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015063 LEXMATCH -MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100076 Duodenal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015063 LEXMATCH -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19752 LEXMATCH -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor LEXMATCH -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015064 LEXMATCH -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015064 LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100078 LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19753 LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015065 LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015065 LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100078 LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100079 LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19754 LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of appendix LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015066 LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015066 LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100079 LEXMATCH -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the rectum LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100082 LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19757 LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of anal canal LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015069 LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015069 LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100082 LEXMATCH -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100083 LEXMATCH -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19758 LEXMATCH -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor LEXMATCH -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015070 LEXMATCH -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015070 LEXMATCH -MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100083 LEXMATCH -MONDO:0015071 middle ear neuroendocrine tumor skos:closeMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100084 LEXMATCH -MONDO:0015071 middle ear neuroendocrine tumor skos:closeMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19759 LEXMATCH -MONDO:0015071 middle ear neuroendocrine tumor skos:closeMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015071 LEXMATCH -MONDO:0015071 middle ear neuroendocrine tumor skos:closeMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015071 LEXMATCH -MONDO:0015071 middle ear neuroendocrine tumor skos:closeMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100084 LEXMATCH -MONDO:0015072 liver neuroendocrine carcinoma skos:closeMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100085 LEXMATCH -MONDO:0015072 liver neuroendocrine carcinoma skos:closeMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19760 LEXMATCH -MONDO:0015072 liver neuroendocrine carcinoma skos:closeMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015072 LEXMATCH -MONDO:0015072 liver neuroendocrine carcinoma skos:closeMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015072 LEXMATCH -MONDO:0015072 liver neuroendocrine carcinoma skos:closeMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100085 LEXMATCH -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:closeMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100086 LEXMATCH -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:closeMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19761 LEXMATCH -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:closeMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015073 LEXMATCH -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:closeMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015073 LEXMATCH -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:closeMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100086 LEXMATCH -MONDO:0015074 thyroid tumor skos:closeMatch Orphanet:100087 Rare thyroid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100087 LEXMATCH -MONDO:0015074 thyroid tumor skos:closeMatch Orphanet:100087 Rare thyroid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19762 LEXMATCH -MONDO:0015074 thyroid tumor skos:closeMatch Orphanet:100087 Rare thyroid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015074 LEXMATCH -MONDO:0015074 thyroid tumor skos:closeMatch Orphanet:100087 Rare thyroid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015074 LEXMATCH -MONDO:0015074 thyroid tumor skos:closeMatch Orphanet:100087 Rare thyroid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100087 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007476 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549473 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100088 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19763 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015075 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015075 LEXMATCH -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Rare thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100088 LEXMATCH -MONDO:0015079 multiple polyglandular tumor skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100094 LEXMATCH -MONDO:0015079 multiple polyglandular tumor skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19766 LEXMATCH -MONDO:0015079 multiple polyglandular tumor skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015079 LEXMATCH -MONDO:0015079 multiple polyglandular tumor skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015079 LEXMATCH -MONDO:0015079 multiple polyglandular tumor skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100094 LEXMATCH -MONDO:0015082 alopecia antibody deficiency skos:closeMatch Orphanet:1006 Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1006 LEXMATCH -MONDO:0015082 alopecia antibody deficiency skos:closeMatch Orphanet:1006 Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18713 LEXMATCH -MONDO:0015082 alopecia antibody deficiency skos:closeMatch Orphanet:1006 Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015082 LEXMATCH -MONDO:0015082 alopecia antibody deficiency skos:closeMatch Orphanet:1006 Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015082 LEXMATCH -MONDO:0015082 alopecia antibody deficiency skos:closeMatch Orphanet:1006 Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1006 LEXMATCH -MONDO:0015084 FRAXF syndrome skos:closeMatch Orphanet:100974 FRAXF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100974 LEXMATCH -MONDO:0015084 FRAXF syndrome skos:closeMatch Orphanet:100974 FRAXF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19769 LEXMATCH -MONDO:0015084 FRAXF syndrome skos:closeMatch Orphanet:100974 FRAXF syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015084 LEXMATCH -MONDO:0015084 FRAXF syndrome skos:closeMatch Orphanet:100974 FRAXF syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015084 LEXMATCH -MONDO:0015084 FRAXF syndrome skos:closeMatch Orphanet:100974 FRAXF syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100974 LEXMATCH -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100976 LEXMATCH -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16938 LEXMATCH -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015085 LEXMATCH -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015085 LEXMATCH -MONDO:0015085 bathing suit ichthyosis skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100976 LEXMATCH -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:closeMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100978 LEXMATCH -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:closeMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:853 LEXMATCH -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:closeMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015086 LEXMATCH -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:closeMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015086 LEXMATCH -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:closeMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100978 LEXMATCH -MONDO:0015087 autosomal dominant complex spastic paraplegia skos:closeMatch Orphanet:100979 Autosomal dominant complex spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19770 LEXMATCH -MONDO:0015087 autosomal dominant complex spastic paraplegia skos:closeMatch Orphanet:100979 Autosomal dominant complex spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015087 LEXMATCH -MONDO:0015087 autosomal dominant complex spastic paraplegia skos:closeMatch Orphanet:100979 Autosomal dominant complex spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015087 LEXMATCH -MONDO:0015092 cleft hard palate skos:closeMatch Orphanet:101023 Cleft hard palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101023 LEXMATCH -MONDO:0015092 cleft hard palate skos:closeMatch Orphanet:101023 Cleft hard palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19774 LEXMATCH -MONDO:0015092 cleft hard palate skos:closeMatch Orphanet:101023 Cleft hard palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015092 LEXMATCH -MONDO:0015092 cleft hard palate skos:closeMatch Orphanet:101023 Cleft hard palate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015092 LEXMATCH -MONDO:0015092 cleft hard palate skos:closeMatch Orphanet:101023 Cleft hard palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101023 LEXMATCH -MONDO:0015093 sub-cortical nodular heterotopia skos:closeMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101029 LEXMATCH -MONDO:0015093 sub-cortical nodular heterotopia skos:closeMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19775 LEXMATCH -MONDO:0015093 sub-cortical nodular heterotopia skos:closeMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015093 LEXMATCH -MONDO:0015093 sub-cortical nodular heterotopia skos:closeMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015093 LEXMATCH -MONDO:0015093 sub-cortical nodular heterotopia skos:closeMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101029 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071150 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3160906 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101030 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5050 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015094 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015094 LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101030 LEXMATCH -MONDO:0015096 familial hypofibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101041 LEXMATCH -MONDO:0015096 familial hypofibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2887 LEXMATCH -MONDO:0015096 familial hypofibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015096 LEXMATCH -MONDO:0015096 familial hypofibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015096 LEXMATCH -MONDO:0015096 familial hypofibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101041 LEXMATCH -MONDO:0015097 aortic valve dysplasia skos:closeMatch Orphanet:101043 Congenital aortic valve dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101043 LEXMATCH -MONDO:0015097 aortic valve dysplasia skos:closeMatch Orphanet:101043 Congenital aortic valve dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19776 LEXMATCH -MONDO:0015097 aortic valve dysplasia skos:closeMatch Orphanet:101043 Congenital aortic valve dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015097 LEXMATCH -MONDO:0015097 aortic valve dysplasia skos:closeMatch Orphanet:101043 Congenital aortic valve dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015097 LEXMATCH -MONDO:0015097 aortic valve dysplasia skos:closeMatch Orphanet:101043 Congenital aortic valve dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101043 LEXMATCH -MONDO:0015099 unilateral hemispheric polymicrogyria skos:closeMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101071 LEXMATCH -MONDO:0015099 unilateral hemispheric polymicrogyria skos:closeMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19777 LEXMATCH -MONDO:0015099 unilateral hemispheric polymicrogyria skos:closeMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015099 LEXMATCH -MONDO:0015099 unilateral hemispheric polymicrogyria skos:closeMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015099 LEXMATCH -MONDO:0015099 unilateral hemispheric polymicrogyria skos:closeMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101071 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054329 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101096 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19778 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015100 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015100 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101096 LEXMATCH -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 LEXMATCH -MONDO:0015101 Marin-Amat syndrome skos:closeMatch Orphanet:101104 Marin-Amat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101104 LEXMATCH -MONDO:0015101 Marin-Amat syndrome skos:closeMatch Orphanet:101104 Marin-Amat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19779 LEXMATCH -MONDO:0015101 Marin-Amat syndrome skos:closeMatch Orphanet:101104 Marin-Amat syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015101 LEXMATCH -MONDO:0015101 Marin-Amat syndrome skos:closeMatch Orphanet:101104 Marin-Amat syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015101 LEXMATCH -MONDO:0015101 Marin-Amat syndrome skos:closeMatch Orphanet:101104 Marin-Amat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101104 LEXMATCH -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:closeMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101206 LEXMATCH -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:closeMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19780 LEXMATCH -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:closeMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015103 LEXMATCH -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:closeMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015103 LEXMATCH -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:closeMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101206 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036183 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162566 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101330 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7433 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015104 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015104 LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101330 LEXMATCH -MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:closeMatch Orphanet:101932 Anomaly of the mitral subvalvular apparatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101932 LEXMATCH -MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:closeMatch Orphanet:101932 Anomaly of the mitral subvalvular apparatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19784 LEXMATCH -MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:closeMatch Orphanet:101932 Anomaly of the mitral subvalvular apparatus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015109 LEXMATCH -MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:closeMatch Orphanet:101932 Anomaly of the mitral subvalvular apparatus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015109 LEXMATCH -MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus skos:closeMatch Orphanet:101932 Anomaly of the mitral subvalvular apparatus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101932 LEXMATCH -MONDO:0015126 polyendocrinopathy skos:closeMatch Orphanet:101956 Polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19800 LEXMATCH -MONDO:0015126 polyendocrinopathy skos:closeMatch Orphanet:101956 Polyendocrinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015126 LEXMATCH -MONDO:0015126 polyendocrinopathy skos:closeMatch Orphanet:101956 Polyendocrinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015126 LEXMATCH -MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 LEXMATCH -MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101957 LEXMATCH -MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19801 LEXMATCH -MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015127 LEXMATCH -MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015127 LEXMATCH -MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101957 LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052381 LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101958 LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19802 LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015128 LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015128 LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101958 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101959 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19803 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015129 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015129 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101959 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240200 LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:240200 LEXMATCH -MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101972 LEXMATCH -MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19806 LEXMATCH -MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined t and b cell immunodeficiency LEXMATCH -MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015131 LEXMATCH -MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015131 LEXMATCH -MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101972 LEXMATCH -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:101987 Constitutional neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101987 LEXMATCH -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:101987 Constitutional neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19809 LEXMATCH -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:101987 Constitutional neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015134 LEXMATCH -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:101987 Constitutional neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015134 LEXMATCH -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:101987 Constitutional neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101987 LEXMATCH -MONDO:0015134 constitutional neutropenia skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label kostmann syndrome LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034533 LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015974 LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101995 LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19812 LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015137 LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015137 LEXMATCH -MONDO:0015137 periodic fever syndrome skos:closeMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101995 LEXMATCH -MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1020 LEXMATCH -MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12798 LEXMATCH -MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015140 LEXMATCH -MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015140 LEXMATCH -MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1020 LEXMATCH -MONDO:0015146 classic lissencephaly skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102009 LEXMATCH -MONDO:0015146 classic lissencephaly skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5049 LEXMATCH -MONDO:0015146 classic lissencephaly skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015146 LEXMATCH -MONDO:0015146 classic lissencephaly skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015146 LEXMATCH -MONDO:0015146 classic lissencephaly skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102009 LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:closeMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102011 LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:closeMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19821 LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:closeMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015148 LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:closeMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015148 LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:closeMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102011 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393555 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102012 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19822 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015149 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015149 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102012 LEXMATCH -MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch Orphanet:102013 Complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19823 LEXMATCH -MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch Orphanet:102013 Complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015150 LEXMATCH -MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch Orphanet:102013 Complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015150 LEXMATCH -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:closeMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102014 LEXMATCH -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:closeMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19824 LEXMATCH -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:closeMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015151 LEXMATCH -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:closeMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015151 LEXMATCH -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:closeMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102014 LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931907 LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102015 LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19825 LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015152 LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015152 LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102015 LEXMATCH -MONDO:0015157 human herpesvirus 8-related tumor skos:closeMatch Orphanet:102024 Human herpesvirus 8-related disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19830 LEXMATCH -MONDO:0015157 human herpesvirus 8-related tumor skos:closeMatch Orphanet:102024 Human herpesvirus 8-related disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015157 LEXMATCH -MONDO:0015157 human herpesvirus 8-related tumor skos:closeMatch Orphanet:102024 Human herpesvirus 8-related disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015157 LEXMATCH -MONDO:0015158 unexplained periodic fever syndrome skos:closeMatch Orphanet:102237 Unexplained periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19831 LEXMATCH -MONDO:0015158 unexplained periodic fever syndrome skos:closeMatch Orphanet:102237 Unexplained periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015158 LEXMATCH -MONDO:0015158 unexplained periodic fever syndrome skos:closeMatch Orphanet:102237 Unexplained periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015158 LEXMATCH -MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:closeMatch Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19832 LEXMATCH -MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:closeMatch Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015159 LEXMATCH -MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:closeMatch Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015159 LEXMATCH -MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:closeMatch Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19833 LEXMATCH -MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:closeMatch Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015161 LEXMATCH -MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:closeMatch Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015161 LEXMATCH -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:closeMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102379 LEXMATCH -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:closeMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19835 LEXMATCH -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:closeMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015164 LEXMATCH -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:closeMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015164 LEXMATCH -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:closeMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102379 LEXMATCH -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:closeMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102381 LEXMATCH -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:closeMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19836 LEXMATCH -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:closeMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015165 LEXMATCH -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:closeMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015165 LEXMATCH -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:closeMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102381 LEXMATCH -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:closeMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:102724 LEXMATCH -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:closeMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19837 LEXMATCH -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:closeMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015166 LEXMATCH -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:closeMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015166 LEXMATCH -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:closeMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:102724 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217100 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295000 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:429 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015167 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015167 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217100 LEXMATCH -MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295000 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051643 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1037 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:777 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015168 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015168 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1037 LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyoplasia congenita LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital amyoplasia LEXMATCH -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103907 LEXMATCH -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19838 LEXMATCH -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015169 LEXMATCH -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015169 LEXMATCH -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103907 LEXMATCH -MONDO:0015170 congenital sodium diarrhea skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103908 LEXMATCH -MONDO:0015170 congenital sodium diarrhea skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16945 LEXMATCH -MONDO:0015170 congenital sodium diarrhea skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015170 LEXMATCH -MONDO:0015170 congenital sodium diarrhea skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015170 LEXMATCH -MONDO:0015170 congenital sodium diarrhea skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103908 LEXMATCH -MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:closeMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103910 LEXMATCH -MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:closeMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19839 LEXMATCH -MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:closeMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015171 LEXMATCH -MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:closeMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015171 LEXMATCH -MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:closeMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103910 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069002 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609129 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103919 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10911 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015175 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015175 LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103919 LEXMATCH -MONDO:0015176 undetermined colitis skos:closeMatch Orphanet:103920 Undetermined colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:103920 LEXMATCH -MONDO:0015176 undetermined colitis skos:closeMatch Orphanet:103920 Undetermined colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19840 LEXMATCH -MONDO:0015176 undetermined colitis skos:closeMatch Orphanet:103920 Undetermined colitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015176 LEXMATCH -MONDO:0015176 undetermined colitis skos:closeMatch Orphanet:103920 Undetermined colitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015176 LEXMATCH -MONDO:0015176 undetermined colitis skos:closeMatch Orphanet:103920 Undetermined colitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:103920 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432226 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1040 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3562 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015177 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015177 LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1040 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049416 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036992 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:104008 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1502 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015183 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015183 LEXMATCH -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:104008 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057018 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345891 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:104010 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19847 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015185 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015185 LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:104010 LEXMATCH -MONDO:0015191 myopathic intestinal pseudoobstruction skos:closeMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:104077 LEXMATCH -MONDO:0015191 myopathic intestinal pseudoobstruction skos:closeMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19853 LEXMATCH -MONDO:0015191 myopathic intestinal pseudoobstruction skos:closeMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015191 LEXMATCH -MONDO:0015191 myopathic intestinal pseudoobstruction skos:closeMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015191 LEXMATCH -MONDO:0015191 myopathic intestinal pseudoobstruction skos:closeMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:104077 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020529 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020305 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1041 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2783 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015193 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015193 LEXMATCH -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1041 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040661 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002896 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1047 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18714 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015194 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015194 LEXMATCH -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1047 LEXMATCH -MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064895 LEXMATCH -MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:105 LEXMATCH -MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18678 LEXMATCH -MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015195 LEXMATCH -MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015195 LEXMATCH -MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:105 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431420 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1053 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5467 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015196 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015196 LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1053 LEXMATCH -MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1054 LEXMATCH -MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:670 LEXMATCH -MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015197 LEXMATCH -MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015197 LEXMATCH -MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1054 LEXMATCH -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:closeMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1067 LEXMATCH -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:closeMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:689 LEXMATCH -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:closeMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015198 LEXMATCH -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:closeMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015198 LEXMATCH -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:closeMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1067 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931243 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1068 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5530 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015199 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015199 LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1068 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002533 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162576 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1070 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:693 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015200 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015200 LEXMATCH -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1070 LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1074 LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:697 LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum-imperforate anus syndrome LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015201 LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015201 LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1074 LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061060 LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1081 LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1534 LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015203 LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015203 LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1081 LEXMATCH -MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956147 LEXMATCH -MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1083 LEXMATCH -MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16555 LEXMATCH -MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015204 LEXMATCH -MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015204 LEXMATCH -MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1083 LEXMATCH -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:closeMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1084 LEXMATCH -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:closeMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18715 LEXMATCH -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:closeMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015205 LEXMATCH -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:closeMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015205 LEXMATCH -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:closeMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1084 LEXMATCH -MONDO:0015209 non-syndromic gastroduodenal malformation skos:closeMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19857 LEXMATCH -MONDO:0015209 non-syndromic gastroduodenal malformation skos:closeMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015209 LEXMATCH -MONDO:0015209 non-syndromic gastroduodenal malformation skos:closeMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015209 LEXMATCH -MONDO:0015210 syndromic gastroduodenal malformation skos:closeMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19858 LEXMATCH -MONDO:0015210 syndromic gastroduodenal malformation skos:closeMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015210 LEXMATCH -MONDO:0015210 syndromic gastroduodenal malformation skos:closeMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015210 LEXMATCH -MONDO:0015211 non-syndromic intestinal malformation skos:closeMatch Orphanet:108967 Non-syndromic intestinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19859 LEXMATCH -MONDO:0015211 non-syndromic intestinal malformation skos:closeMatch Orphanet:108967 Non-syndromic intestinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015211 LEXMATCH -MONDO:0015211 non-syndromic intestinal malformation skos:closeMatch Orphanet:108967 Non-syndromic intestinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015211 LEXMATCH -MONDO:0015212 syndromic intestinal malformation skos:closeMatch Orphanet:108969 Syndromic intestinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19860 LEXMATCH -MONDO:0015212 syndromic intestinal malformation skos:closeMatch Orphanet:108969 Syndromic intestinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015212 LEXMATCH -MONDO:0015212 syndromic intestinal malformation skos:closeMatch Orphanet:108969 Syndromic intestinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015212 LEXMATCH -MONDO:0015213 non-syndromic visceral malformation skos:closeMatch Orphanet:108971 Non-syndromic visceral malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19861 LEXMATCH -MONDO:0015213 non-syndromic visceral malformation skos:closeMatch Orphanet:108971 Non-syndromic visceral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015213 LEXMATCH -MONDO:0015213 non-syndromic visceral malformation skos:closeMatch Orphanet:108971 Non-syndromic visceral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015213 LEXMATCH -MONDO:0015214 syndromic visceral malformation skos:closeMatch Orphanet:108973 Syndromic visceral malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19862 LEXMATCH -MONDO:0015214 syndromic visceral malformation skos:closeMatch Orphanet:108973 Syndromic visceral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015214 LEXMATCH -MONDO:0015214 syndromic visceral malformation skos:closeMatch Orphanet:108973 Syndromic visceral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015214 LEXMATCH -MONDO:0015221 non-syndromic respiratory or mediastinal malformation skos:closeMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19867 LEXMATCH -MONDO:0015221 non-syndromic respiratory or mediastinal malformation skos:closeMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015221 LEXMATCH -MONDO:0015221 non-syndromic respiratory or mediastinal malformation skos:closeMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015221 LEXMATCH -MONDO:0015222 syndromic respiratory or mediastinal malformation skos:closeMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19868 LEXMATCH -MONDO:0015222 syndromic respiratory or mediastinal malformation skos:closeMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015222 LEXMATCH -MONDO:0015222 syndromic respiratory or mediastinal malformation skos:closeMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015222 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:109007 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19870 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015225 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015225 LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:109007 LEXMATCH -MONDO:0015227 non-syndromic limb malformation skos:closeMatch Orphanet:109011 Non-syndromic limb malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19872 LEXMATCH -MONDO:0015227 non-syndromic limb malformation skos:closeMatch Orphanet:109011 Non-syndromic limb malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015227 LEXMATCH -MONDO:0015227 non-syndromic limb malformation skos:closeMatch Orphanet:109011 Non-syndromic limb malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015227 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:11 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5678 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015228 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015228 LEXMATCH -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:11 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056715 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752166 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:110 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6866 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015229 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015229 LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:110 LEXMATCH -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:closeMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1101 LEXMATCH -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:closeMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:717 LEXMATCH -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:closeMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015230 LEXMATCH -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:closeMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015230 LEXMATCH -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:closeMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1101 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050839 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004775 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:112 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5893 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015231 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015231 LEXMATCH -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:112 LEXMATCH -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:closeMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1121 LEXMATCH -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:closeMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18716 LEXMATCH -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:closeMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015232 LEXMATCH -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:closeMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015232 LEXMATCH -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:closeMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1121 LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931593 LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1123 LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1163 LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015233 LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015233 LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1123 LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931398 LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1129 LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:381 LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015234 LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015234 LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1129 LEXMATCH -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:closeMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1130 LEXMATCH -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:closeMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:764 LEXMATCH -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:closeMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015235 LEXMATCH -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:closeMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015235 LEXMATCH -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:closeMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1130 LEXMATCH -MONDO:0015236 aortic arch defects skos:closeMatch Orphanet:1132 Aortic arch defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:741 LEXMATCH -MONDO:0015236 aortic arch defects skos:closeMatch Orphanet:1132 Aortic arch defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015236 LEXMATCH -MONDO:0015236 aortic arch defects skos:closeMatch Orphanet:1132 Aortic arch defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015236 LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1134 LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:364 LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arrhinia LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015237 LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015237 LEXMATCH -MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1134 LEXMATCH -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1135 LEXMATCH -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8755 LEXMATCH -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015238 LEXMATCH -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015238 LEXMATCH -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1135 LEXMATCH -MONDO:0015239 abnormal origin of the pulmonary artery skos:closeMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1138 LEXMATCH -MONDO:0015239 abnormal origin of the pulmonary artery skos:closeMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18717 LEXMATCH -MONDO:0015239 abnormal origin of the pulmonary artery skos:closeMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015239 LEXMATCH -MONDO:0015239 abnormal origin of the pulmonary artery skos:closeMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015239 LEXMATCH -MONDO:0015239 abnormal origin of the pulmonary artery skos:closeMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1138 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220662 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1146 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:787 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015240 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015240 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1146 LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1149 LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3150 LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kuskokwim syndrome LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015241 LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015241 LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1149 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006474 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103920 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004031 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1164 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15034 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:602 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015243 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015243 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103920 LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1164 LEXMATCH -MONDO:0015244 autosomal recessive cerebellar ataxia skos:closeMatch Orphanet:1172 Autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18718 LEXMATCH -MONDO:0015244 autosomal recessive cerebellar ataxia skos:closeMatch Orphanet:1172 Autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015244 LEXMATCH -MONDO:0015244 autosomal recessive cerebellar ataxia skos:closeMatch Orphanet:1172 Autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015244 LEXMATCH -MONDO:0015246 syndromic anorectal malformation skos:closeMatch Orphanet:117573 Syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19874 LEXMATCH -MONDO:0015246 syndromic anorectal malformation skos:closeMatch Orphanet:117573 Syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015246 LEXMATCH -MONDO:0015246 syndromic anorectal malformation skos:closeMatch Orphanet:117573 Syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015246 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053854 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393626 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1183 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10009 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015247 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015247 LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1183 LEXMATCH -MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:closeMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1184 LEXMATCH -MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:closeMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2287 LEXMATCH -MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:closeMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015248 LEXMATCH -MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:closeMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015248 LEXMATCH -MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:closeMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1184 LEXMATCH -MONDO:0015249 mitral atresia disorder skos:closeMatch Orphanet:1205 Mitral atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1205 LEXMATCH -MONDO:0015249 mitral atresia disorder skos:closeMatch Orphanet:1205 Mitral atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3685 LEXMATCH -MONDO:0015249 mitral atresia disorder skos:closeMatch Orphanet:1205 Mitral atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015249 LEXMATCH -MONDO:0015249 mitral atresia disorder skos:closeMatch Orphanet:1205 Mitral atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015249 LEXMATCH -MONDO:0015249 mitral atresia disorder skos:closeMatch Orphanet:1205 Mitral atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1205 LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930956 LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1217 LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4942 LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015250 LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015250 LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1217 LEXMATCH -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:closeMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1236 LEXMATCH -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:closeMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3482 LEXMATCH -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:closeMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015252 LEXMATCH -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:closeMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015252 LEXMATCH -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:closeMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1236 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062989 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:124 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6274 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015253 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015253 LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:124 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039603 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036323 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1247 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9687 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015254 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015254 LEXMATCH -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1247 LEXMATCH -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:closeMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1277 LEXMATCH -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:closeMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5036 LEXMATCH -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:closeMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015259 LEXMATCH -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:closeMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015259 LEXMATCH -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:closeMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1277 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013029 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012561 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:128 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:942 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015260 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015260 LEXMATCH -MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:128 LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:129 LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4536 LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015261 LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015261 LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:129 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432228 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1293 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10903 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015262 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015262 LEXMATCH -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1293 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142166 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:130 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1030 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015263 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015263 LEXMATCH -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:130 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242770 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1302 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1620 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015264 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015264 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1302 LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constrictive bronchiolitis LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1303 LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5961 LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bronchiolitis obliterans with obstructive pulmonary disease LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015265 LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015265 LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1303 LEXMATCH -MONDO:0015267 Feingold syndrome skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1305 LEXMATCH -MONDO:0015267 Feingold syndrome skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8407 LEXMATCH -MONDO:0015267 Feingold syndrome skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015267 LEXMATCH -MONDO:0015267 Feingold syndrome skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015267 LEXMATCH -MONDO:0015267 Feingold syndrome skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1305 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027104 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022681 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1309 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:232 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015268 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015268 LEXMATCH -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1309 LEXMATCH -MONDO:0015269 symmetrical thalamic calcifications skos:closeMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1314 LEXMATCH -MONDO:0015269 symmetrical thalamic calcifications skos:closeMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5070 LEXMATCH -MONDO:0015269 symmetrical thalamic calcifications skos:closeMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015269 LEXMATCH -MONDO:0015269 symmetrical thalamic calcifications skos:closeMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015269 LEXMATCH -MONDO:0015269 symmetrical thalamic calcifications skos:closeMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1314 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617936 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283400 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:132 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7482 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617936 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015270 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015270 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617936 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:132 LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617936 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069646 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1320 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1063 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015271 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015271 LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1320 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931681 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1325 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1069 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015272 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015272 LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1325 LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:closeMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1329 LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:closeMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1454 LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:closeMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015273 LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:closeMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015273 LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:closeMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1329 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004485 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001607 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:133 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:867 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015274 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015274 LEXMATCH -MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:133 LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1330 LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4229 LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial avsd LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015275 LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015275 LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1330 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027101 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238462 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1332 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7004 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015277 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015277 LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1332 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260350 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1333 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4206 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:260350 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015278 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015278 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260350 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1333 LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:260350 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009007 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006845 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1334 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1077 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015279 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015279 LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1334 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275081 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1340 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9146 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015280 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015280 LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1340 LEXMATCH -MONDO:0015281 atrial standstill skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1344 LEXMATCH -MONDO:0015281 atrial standstill skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16564 LEXMATCH -MONDO:0015281 atrial standstill skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015281 LEXMATCH -MONDO:0015281 atrial standstill skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015281 LEXMATCH -MONDO:0015281 atrial standstill skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1344 LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931548 LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1345 LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1102 LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015282 LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015282 LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1345 LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:closeMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1349 LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:closeMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18719 LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:closeMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015283 LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:closeMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015283 LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:closeMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1349 LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931323 LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1350 LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9847 LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015284 LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015284 LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1350 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406810 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1359 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1119 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015285 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015285 LEXMATCH -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1359 LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282577 LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137 LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10307 LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015286 LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015286 LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137 LEXMATCH -MONDO:0015289 infectious epithelial keratitis skos:closeMatch Orphanet:137593 Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137593 LEXMATCH -MONDO:0015289 infectious epithelial keratitis skos:closeMatch Orphanet:137593 Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19877 LEXMATCH -MONDO:0015289 infectious epithelial keratitis skos:closeMatch Orphanet:137593 Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015289 LEXMATCH -MONDO:0015289 infectious epithelial keratitis skos:closeMatch Orphanet:137593 Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015289 LEXMATCH -MONDO:0015289 infectious epithelial keratitis skos:closeMatch Orphanet:137593 Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137593 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069732 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339296 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137596 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19878 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015290 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015290 LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137596 LEXMATCH -MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318020 LEXMATCH -MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137599 LEXMATCH -MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19879 LEXMATCH -MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015291 LEXMATCH -MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015291 LEXMATCH -MONDO:0015291 stromal keratitis skos:closeMatch Orphanet:137599 Herpes simplex virus stromal keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137599 LEXMATCH -MONDO:0015292 endotheliitis skos:closeMatch Orphanet:137602 Corneal endotheliitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137602 LEXMATCH -MONDO:0015292 endotheliitis skos:closeMatch Orphanet:137602 Corneal endotheliitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19880 LEXMATCH -MONDO:0015292 endotheliitis skos:closeMatch Orphanet:137602 Corneal endotheliitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015292 LEXMATCH -MONDO:0015292 endotheliitis skos:closeMatch Orphanet:137602 Corneal endotheliitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015292 LEXMATCH -MONDO:0015292 endotheliitis skos:closeMatch Orphanet:137602 Corneal endotheliitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137602 LEXMATCH -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:closeMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137608 LEXMATCH -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:closeMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19881 LEXMATCH -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:closeMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015293 LEXMATCH -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:closeMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015293 LEXMATCH -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:closeMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137608 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067467 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888044 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137617 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9725 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015294 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015294 LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137617 LEXMATCH -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:closeMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137622 LEXMATCH -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:closeMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19882 LEXMATCH -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:closeMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015295 LEXMATCH -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:closeMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015295 LEXMATCH -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:closeMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137622 LEXMATCH -MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:closeMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137628 LEXMATCH -MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:closeMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19883 LEXMATCH -MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:closeMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015296 LEXMATCH -MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:closeMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015296 LEXMATCH -MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:closeMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137628 LEXMATCH -MONDO:0015298 pellucid marginal degeneration skos:closeMatch Orphanet:137672 Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137672 LEXMATCH -MONDO:0015298 pellucid marginal degeneration skos:closeMatch Orphanet:137672 Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11895 LEXMATCH -MONDO:0015298 pellucid marginal degeneration skos:closeMatch Orphanet:137672 Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015298 LEXMATCH -MONDO:0015298 pellucid marginal degeneration skos:closeMatch Orphanet:137672 Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015298 LEXMATCH -MONDO:0015298 pellucid marginal degeneration skos:closeMatch Orphanet:137672 Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137672 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022821 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053868 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0156372 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137686 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5853 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015299 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015299 LEXMATCH -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137686 LEXMATCH -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 LEXMATCH -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1377 LEXMATCH -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1155 LEXMATCH -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015300 LEXMATCH -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015300 LEXMATCH -MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1377 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011659 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268397 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137807 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:132 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015301 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015301 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137807 LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial primary localized cutaneous amyloidosis LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056953 LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546394 LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137810 LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10562 LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015302 LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015302 LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137810 LEXMATCH -MONDO:0015303 macular amyloidosis skos:closeMatch Orphanet:137814 Macular amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137814 LEXMATCH -MONDO:0015303 macular amyloidosis skos:closeMatch Orphanet:137814 Macular amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19885 LEXMATCH -MONDO:0015303 macular amyloidosis skos:closeMatch Orphanet:137814 Macular amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015303 LEXMATCH -MONDO:0015303 macular amyloidosis skos:closeMatch Orphanet:137814 Macular amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015303 LEXMATCH -MONDO:0015303 macular amyloidosis skos:closeMatch Orphanet:137814 Macular amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137814 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003074 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003708 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137817 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5839 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015304 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015304 LEXMATCH -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137817 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065552 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137839 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6882 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015306 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015306 LEXMATCH -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137839 LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393551 LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137867 LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19887 LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015307 LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015307 LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137867 LEXMATCH -MONDO:0015312 choanal atresia, unilateral skos:closeMatch Orphanet:137917 Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137917 LEXMATCH -MONDO:0015312 choanal atresia, unilateral skos:closeMatch Orphanet:137917 Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19889 LEXMATCH -MONDO:0015312 choanal atresia, unilateral skos:closeMatch Orphanet:137917 Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015312 LEXMATCH -MONDO:0015312 choanal atresia, unilateral skos:closeMatch Orphanet:137917 Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015312 LEXMATCH -MONDO:0015312 choanal atresia, unilateral skos:closeMatch Orphanet:137917 Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137917 LEXMATCH -MONDO:0015313 choanal atresia, bilateral skos:closeMatch Orphanet:137920 Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137920 LEXMATCH -MONDO:0015313 choanal atresia, bilateral skos:closeMatch Orphanet:137920 Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19890 LEXMATCH -MONDO:0015313 choanal atresia, bilateral skos:closeMatch Orphanet:137920 Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015313 LEXMATCH -MONDO:0015313 choanal atresia, bilateral skos:closeMatch Orphanet:137920 Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015313 LEXMATCH -MONDO:0015313 choanal atresia, bilateral skos:closeMatch Orphanet:137920 Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137920 LEXMATCH -MONDO:0015314 primary laryngeal lymphangioma skos:closeMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137926 LEXMATCH -MONDO:0015314 primary laryngeal lymphangioma skos:closeMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19891 LEXMATCH -MONDO:0015314 primary laryngeal lymphangioma skos:closeMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015314 LEXMATCH -MONDO:0015314 primary laryngeal lymphangioma skos:closeMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015314 LEXMATCH -MONDO:0015314 primary laryngeal lymphangioma skos:closeMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137926 LEXMATCH -MONDO:0015315 neonatal brainstem dysfunction skos:closeMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137929 LEXMATCH -MONDO:0015315 neonatal brainstem dysfunction skos:closeMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19892 LEXMATCH -MONDO:0015315 neonatal brainstem dysfunction skos:closeMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015315 LEXMATCH -MONDO:0015315 neonatal brainstem dysfunction skos:closeMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015315 LEXMATCH -MONDO:0015315 neonatal brainstem dysfunction skos:closeMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137929 LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0396058 LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137932 LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12713 LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015316 LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015316 LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137932 LEXMATCH -MONDO:0015317 laryngotracheal angioma skos:closeMatch Orphanet:137935 Laryngotracheal angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:137935 LEXMATCH -MONDO:0015317 laryngotracheal angioma skos:closeMatch Orphanet:137935 Laryngotracheal angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19893 LEXMATCH -MONDO:0015317 laryngotracheal angioma skos:closeMatch Orphanet:137935 Laryngotracheal angioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015317 LEXMATCH -MONDO:0015317 laryngotracheal angioma skos:closeMatch Orphanet:137935 Laryngotracheal angioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015317 LEXMATCH -MONDO:0015317 laryngotracheal angioma skos:closeMatch Orphanet:137935 Laryngotracheal angioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:137935 LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931391 LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1381 LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:192 LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015324 LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015324 LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1381 LEXMATCH -MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:closeMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1383 LEXMATCH -MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:closeMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:248 LEXMATCH -MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:closeMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015325 LEXMATCH -MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:closeMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015325 LEXMATCH -MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:closeMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1383 LEXMATCH -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:closeMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1390 LEXMATCH -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:closeMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3994 LEXMATCH -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:closeMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015326 LEXMATCH -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:closeMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015326 LEXMATCH -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:closeMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1390 LEXMATCH -MONDO:0015327 developmental anomaly of metabolic origin skos:closeMatch Orphanet:139009 Developmental anomaly of metabolic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19900 LEXMATCH -MONDO:0015327 developmental anomaly of metabolic origin skos:closeMatch Orphanet:139009 Developmental anomaly of metabolic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015327 LEXMATCH -MONDO:0015327 developmental anomaly of metabolic origin skos:closeMatch Orphanet:139009 Developmental anomaly of metabolic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015327 LEXMATCH -MONDO:0015330 overgrowth/obesity syndrome skos:closeMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19903 LEXMATCH -MONDO:0015330 overgrowth/obesity syndrome skos:closeMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015330 LEXMATCH -MONDO:0015330 overgrowth/obesity syndrome skos:closeMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015330 LEXMATCH -MONDO:0015333 progeroid syndrome skos:closeMatch Orphanet:139033 Progeroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139033 LEXMATCH -MONDO:0015333 progeroid syndrome skos:closeMatch Orphanet:139033 Progeroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19906 LEXMATCH -MONDO:0015333 progeroid syndrome skos:closeMatch Orphanet:139033 Progeroid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015333 LEXMATCH -MONDO:0015333 progeroid syndrome skos:closeMatch Orphanet:139033 Progeroid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015333 LEXMATCH -MONDO:0015333 progeroid syndrome skos:closeMatch Orphanet:139033 Progeroid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139033 LEXMATCH -MONDO:0015334 branchial arch or oral-acral syndrome skos:closeMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19907 LEXMATCH -MONDO:0015334 branchial arch or oral-acral syndrome skos:closeMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015334 LEXMATCH -MONDO:0015334 branchial arch or oral-acral syndrome skos:closeMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015334 LEXMATCH -MONDO:0015337 isolated craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139390 LEXMATCH -MONDO:0015337 isolated craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19910 LEXMATCH -MONDO:0015337 isolated craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015337 LEXMATCH -MONDO:0015337 isolated craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015337 LEXMATCH -MONDO:0015337 isolated craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139390 LEXMATCH -MONDO:0015338 syndromic craniosynostosis skos:closeMatch Orphanet:139393 Syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19911 LEXMATCH -MONDO:0015338 syndromic craniosynostosis skos:closeMatch Orphanet:139393 Syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015338 LEXMATCH -MONDO:0015338 syndromic craniosynostosis skos:closeMatch Orphanet:139393 Syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015338 LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527231 LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139399 LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10614 LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015339 LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015339 LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139399 LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058919 LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139402 LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13629 LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015340 LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015340 LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139402 LEXMATCH -MONDO:0015341 congenital panfollicular nevus skos:closeMatch Orphanet:139414 Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139414 LEXMATCH -MONDO:0015341 congenital panfollicular nevus skos:closeMatch Orphanet:139414 Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19912 LEXMATCH -MONDO:0015341 congenital panfollicular nevus skos:closeMatch Orphanet:139414 Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015341 LEXMATCH -MONDO:0015341 congenital panfollicular nevus skos:closeMatch Orphanet:139414 Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015341 LEXMATCH -MONDO:0015341 congenital panfollicular nevus skos:closeMatch Orphanet:139414 Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139414 LEXMATCH -MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270627 LEXMATCH -MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139417 LEXMATCH -MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19913 LEXMATCH -MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015342 LEXMATCH -MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015342 LEXMATCH -MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139417 LEXMATCH -MONDO:0015344 idiopathic acute transverse myelitis skos:closeMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139423 LEXMATCH -MONDO:0015344 idiopathic acute transverse myelitis skos:closeMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19914 LEXMATCH -MONDO:0015344 idiopathic acute transverse myelitis skos:closeMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015344 LEXMATCH -MONDO:0015344 idiopathic acute transverse myelitis skos:closeMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015344 LEXMATCH -MONDO:0015344 idiopathic acute transverse myelitis skos:closeMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139423 LEXMATCH -MONDO:0015345 perioral myoclonia with absences skos:closeMatch Orphanet:139426 Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139426 LEXMATCH -MONDO:0015345 perioral myoclonia with absences skos:closeMatch Orphanet:139426 Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19915 LEXMATCH -MONDO:0015345 perioral myoclonia with absences skos:closeMatch Orphanet:139426 Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015345 LEXMATCH -MONDO:0015345 perioral myoclonia with absences skos:closeMatch Orphanet:139426 Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015345 LEXMATCH -MONDO:0015345 perioral myoclonia with absences skos:closeMatch Orphanet:139426 Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139426 LEXMATCH -MONDO:0015346 Jeavons syndrome skos:closeMatch Orphanet:139431 Jeavons syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139431 LEXMATCH -MONDO:0015346 Jeavons syndrome skos:closeMatch Orphanet:139431 Jeavons syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19916 LEXMATCH -MONDO:0015346 Jeavons syndrome skos:closeMatch Orphanet:139431 Jeavons syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015346 LEXMATCH -MONDO:0015346 Jeavons syndrome skos:closeMatch Orphanet:139431 Jeavons syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015346 LEXMATCH -MONDO:0015346 Jeavons syndrome skos:closeMatch Orphanet:139431 Jeavons syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139431 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070595 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311284 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139436 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7103 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015347 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015347 LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139436 LEXMATCH -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:closeMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139444 LEXMATCH -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:closeMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19917 LEXMATCH -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:closeMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015348 LEXMATCH -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:closeMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015348 LEXMATCH -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:closeMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139444 LEXMATCH -MONDO:0015349 progressive cavitating leukoencephalopathy skos:closeMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139447 LEXMATCH -MONDO:0015349 progressive cavitating leukoencephalopathy skos:closeMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19918 LEXMATCH -MONDO:0015349 progressive cavitating leukoencephalopathy skos:closeMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015349 LEXMATCH -MONDO:0015349 progressive cavitating leukoencephalopathy skos:closeMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015349 LEXMATCH -MONDO:0015349 progressive cavitating leukoencephalopathy skos:closeMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139447 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618874 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139474 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16952 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618874 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015350 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015350 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618874 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139474 LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618874 LEXMATCH -MONDO:0015351 neuropathy with hearing impairment skos:closeMatch Orphanet:139512 Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139512 LEXMATCH -MONDO:0015351 neuropathy with hearing impairment skos:closeMatch Orphanet:139512 Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19919 LEXMATCH -MONDO:0015351 neuropathy with hearing impairment skos:closeMatch Orphanet:139512 Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015351 LEXMATCH -MONDO:0015351 neuropathy with hearing impairment skos:closeMatch Orphanet:139512 Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015351 LEXMATCH -MONDO:0015351 neuropathy with hearing impairment skos:closeMatch Orphanet:139512 Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139512 LEXMATCH -MONDO:0015352 distal hereditary motor neuropathy type 2 skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139525 LEXMATCH -MONDO:0015352 distal hereditary motor neuropathy type 2 skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16954 LEXMATCH -MONDO:0015352 distal hereditary motor neuropathy type 2 skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015352 LEXMATCH -MONDO:0015352 distal hereditary motor neuropathy type 2 skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015352 LEXMATCH -MONDO:0015352 distal hereditary motor neuropathy type 2 skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139525 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600794 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833308 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18266 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600794 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600794 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600794 LEXMATCH -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:closeMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139573 LEXMATCH -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:closeMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19920 LEXMATCH -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:closeMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015354 LEXMATCH -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:closeMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015354 LEXMATCH -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:closeMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139573 LEXMATCH -MONDO:0015355 distal hereditary motor neuropathy type 7 skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139589 LEXMATCH -MONDO:0015355 distal hereditary motor neuropathy type 7 skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16960 LEXMATCH -MONDO:0015355 distal hereditary motor neuropathy type 7 skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015355 LEXMATCH -MONDO:0015355 distal hereditary motor neuropathy type 7 skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015355 LEXMATCH -MONDO:0015355 distal hereditary motor neuropathy type 7 skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139589 LEXMATCH -MONDO:0015356 hereditary neoplastic syndrome skos:closeMatch Orphanet:140162 Inherited cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19921 LEXMATCH -MONDO:0015356 hereditary neoplastic syndrome skos:closeMatch Orphanet:140162 Inherited cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015356 LEXMATCH -MONDO:0015356 hereditary neoplastic syndrome skos:closeMatch Orphanet:140162 Inherited cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015356 LEXMATCH -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:closeMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140286 LEXMATCH -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:closeMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19922 LEXMATCH -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:closeMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015357 LEXMATCH -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:closeMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015357 LEXMATCH -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:closeMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140286 LEXMATCH -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:closeMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19926 LEXMATCH -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:closeMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015362 LEXMATCH -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:closeMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015362 LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140468 LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19927 LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015363 LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015363 LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140468 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027889 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140471 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12688 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015364 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015364 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140471 LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 LEXMATCH -MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:1406 Charlie M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1406 LEXMATCH -MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:1406 Charlie M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1261 LEXMATCH -MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:1406 Charlie M syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015367 LEXMATCH -MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:1406 Charlie M syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015367 LEXMATCH -MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:1406 Charlie M syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1406 LEXMATCH -MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 LEXMATCH -MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch Orphanet:140874 Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19931 LEXMATCH -MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch Orphanet:140874 Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015369 LEXMATCH -MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch Orphanet:140874 Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015369 LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274753 LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140933 LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19932 LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015371 LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015371 LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140933 LEXMATCH -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140957 LEXMATCH -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16965 LEXMATCH -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015372 LEXMATCH -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015372 LEXMATCH -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140957 LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140989 LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8703 LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015374 LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015374 LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140989 LEXMATCH -MONDO:0015375 orofaciodigital syndrome skos:closeMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:140997 LEXMATCH -MONDO:0015375 orofaciodigital syndrome skos:closeMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10692 LEXMATCH -MONDO:0015375 orofaciodigital syndrome skos:closeMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015375 LEXMATCH -MONDO:0015375 orofaciodigital syndrome skos:closeMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015375 LEXMATCH -MONDO:0015375 orofaciodigital syndrome skos:closeMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:140997 LEXMATCH -MONDO:0015376 first branchial cleft anomaly skos:closeMatch Orphanet:141013 First branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141013 LEXMATCH -MONDO:0015376 first branchial cleft anomaly skos:closeMatch Orphanet:141013 First branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19934 LEXMATCH -MONDO:0015376 first branchial cleft anomaly skos:closeMatch Orphanet:141013 First branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015376 LEXMATCH -MONDO:0015376 first branchial cleft anomaly skos:closeMatch Orphanet:141013 First branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015376 LEXMATCH -MONDO:0015376 first branchial cleft anomaly skos:closeMatch Orphanet:141013 First branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141013 LEXMATCH -MONDO:0015377 third branchial cleft anomaly skos:closeMatch Orphanet:141030 Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141030 LEXMATCH -MONDO:0015377 third branchial cleft anomaly skos:closeMatch Orphanet:141030 Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19935 LEXMATCH -MONDO:0015377 third branchial cleft anomaly skos:closeMatch Orphanet:141030 Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015377 LEXMATCH -MONDO:0015377 third branchial cleft anomaly skos:closeMatch Orphanet:141030 Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015377 LEXMATCH -MONDO:0015377 third branchial cleft anomaly skos:closeMatch Orphanet:141030 Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141030 LEXMATCH -MONDO:0015378 fourth branchial cleft anomaly skos:closeMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141037 LEXMATCH -MONDO:0015378 fourth branchial cleft anomaly skos:closeMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19936 LEXMATCH -MONDO:0015378 fourth branchial cleft anomaly skos:closeMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015378 LEXMATCH -MONDO:0015378 fourth branchial cleft anomaly skos:closeMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015378 LEXMATCH -MONDO:0015378 fourth branchial cleft anomaly skos:closeMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141037 LEXMATCH -MONDO:0015379 cervical dermoid cyst skos:closeMatch Orphanet:141046 Cervical dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141046 LEXMATCH -MONDO:0015379 cervical dermoid cyst skos:closeMatch Orphanet:141046 Cervical dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19937 LEXMATCH -MONDO:0015379 cervical dermoid cyst skos:closeMatch Orphanet:141046 Cervical dermoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015379 LEXMATCH -MONDO:0015379 cervical dermoid cyst skos:closeMatch Orphanet:141046 Cervical dermoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015379 LEXMATCH -MONDO:0015379 cervical dermoid cyst skos:closeMatch Orphanet:141046 Cervical dermoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141046 LEXMATCH -MONDO:0015380 facial dermoid cyst skos:closeMatch Orphanet:141051 Facial dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141051 LEXMATCH -MONDO:0015380 facial dermoid cyst skos:closeMatch Orphanet:141051 Facial dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19938 LEXMATCH -MONDO:0015380 facial dermoid cyst skos:closeMatch Orphanet:141051 Facial dermoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015380 LEXMATCH -MONDO:0015380 facial dermoid cyst skos:closeMatch Orphanet:141051 Facial dermoid cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015380 LEXMATCH -MONDO:0015380 facial dermoid cyst skos:closeMatch Orphanet:141051 Facial dermoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141051 LEXMATCH -MONDO:0015381 commissural lip fistula skos:closeMatch Orphanet:141061 Commissural lip fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141061 LEXMATCH -MONDO:0015381 commissural lip fistula skos:closeMatch Orphanet:141061 Commissural lip fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19939 LEXMATCH -MONDO:0015381 commissural lip fistula skos:closeMatch Orphanet:141061 Commissural lip fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015381 LEXMATCH -MONDO:0015381 commissural lip fistula skos:closeMatch Orphanet:141061 Commissural lip fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015381 LEXMATCH -MONDO:0015381 commissural lip fistula skos:closeMatch Orphanet:141061 Commissural lip fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141061 LEXMATCH -MONDO:0015382 lower lip fistula skos:closeMatch Orphanet:141064 Lower lip fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141064 LEXMATCH -MONDO:0015382 lower lip fistula skos:closeMatch Orphanet:141064 Lower lip fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19940 LEXMATCH -MONDO:0015382 lower lip fistula skos:closeMatch Orphanet:141064 Lower lip fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015382 LEXMATCH -MONDO:0015382 lower lip fistula skos:closeMatch Orphanet:141064 Lower lip fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015382 LEXMATCH -MONDO:0015382 lower lip fistula skos:closeMatch Orphanet:141064 Lower lip fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141064 LEXMATCH -MONDO:0015383 cervicofacial fibrochondroma skos:closeMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141067 LEXMATCH -MONDO:0015383 cervicofacial fibrochondroma skos:closeMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19941 LEXMATCH -MONDO:0015383 cervicofacial fibrochondroma skos:closeMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015383 LEXMATCH -MONDO:0015383 cervicofacial fibrochondroma skos:closeMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015383 LEXMATCH -MONDO:0015383 cervicofacial fibrochondroma skos:closeMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141067 LEXMATCH -MONDO:0015384 digestive duplication cyst of the tongue skos:closeMatch Orphanet:141071 Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141071 LEXMATCH -MONDO:0015384 digestive duplication cyst of the tongue skos:closeMatch Orphanet:141071 Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19942 LEXMATCH -MONDO:0015384 digestive duplication cyst of the tongue skos:closeMatch Orphanet:141071 Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015384 LEXMATCH -MONDO:0015384 digestive duplication cyst of the tongue skos:closeMatch Orphanet:141071 Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015384 LEXMATCH -MONDO:0015384 digestive duplication cyst of the tongue skos:closeMatch Orphanet:141071 Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141071 LEXMATCH -MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266725 LEXMATCH -MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141077 LEXMATCH -MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19943 LEXMATCH -MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015386 LEXMATCH -MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015386 LEXMATCH -MONDO:0015386 epignathus skos:closeMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141077 LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141083 LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19944 LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dacryocystocele LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015387 LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015387 LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:closeMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141083 LEXMATCH -MONDO:0015388 polyrrhinia skos:closeMatch Orphanet:141091 Polyrrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141091 LEXMATCH -MONDO:0015388 polyrrhinia skos:closeMatch Orphanet:141091 Polyrrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19945 LEXMATCH -MONDO:0015388 polyrrhinia skos:closeMatch Orphanet:141091 Polyrrhinia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015388 LEXMATCH -MONDO:0015388 polyrrhinia skos:closeMatch Orphanet:141091 Polyrrhinia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015388 LEXMATCH -MONDO:0015388 polyrrhinia skos:closeMatch Orphanet:141091 Polyrrhinia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141091 LEXMATCH -MONDO:0015389 supernumerary nostril skos:closeMatch Orphanet:141096 Supernumerary nostril semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141096 LEXMATCH -MONDO:0015389 supernumerary nostril skos:closeMatch Orphanet:141096 Supernumerary nostril semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19946 LEXMATCH -MONDO:0015389 supernumerary nostril skos:closeMatch Orphanet:141096 Supernumerary nostril semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015389 LEXMATCH -MONDO:0015389 supernumerary nostril skos:closeMatch Orphanet:141096 Supernumerary nostril semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015389 LEXMATCH -MONDO:0015389 supernumerary nostril skos:closeMatch Orphanet:141096 Supernumerary nostril semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141096 LEXMATCH -MONDO:0015390 proboscis lateralis skos:closeMatch Orphanet:141099 Proboscis lateralis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141099 LEXMATCH -MONDO:0015390 proboscis lateralis skos:closeMatch Orphanet:141099 Proboscis lateralis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19947 LEXMATCH -MONDO:0015390 proboscis lateralis skos:closeMatch Orphanet:141099 Proboscis lateralis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015390 LEXMATCH -MONDO:0015390 proboscis lateralis skos:closeMatch Orphanet:141099 Proboscis lateralis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015390 LEXMATCH -MONDO:0015390 proboscis lateralis skos:closeMatch Orphanet:141099 Proboscis lateralis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141099 LEXMATCH -MONDO:0015391 nasopharyngeal teratoma skos:closeMatch Orphanet:141107 Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141107 LEXMATCH -MONDO:0015391 nasopharyngeal teratoma skos:closeMatch Orphanet:141107 Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19948 LEXMATCH -MONDO:0015391 nasopharyngeal teratoma skos:closeMatch Orphanet:141107 Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015391 LEXMATCH -MONDO:0015391 nasopharyngeal teratoma skos:closeMatch Orphanet:141107 Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015391 LEXMATCH -MONDO:0015391 nasopharyngeal teratoma skos:closeMatch Orphanet:141107 Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141107 LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266490 LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141112 LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19949 LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015392 LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015392 LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141112 LEXMATCH -MONDO:0015393 nasal ganglioglioma skos:closeMatch Orphanet:141115 Nasal ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141115 LEXMATCH -MONDO:0015393 nasal ganglioglioma skos:closeMatch Orphanet:141115 Nasal ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19950 LEXMATCH -MONDO:0015393 nasal ganglioglioma skos:closeMatch Orphanet:141115 Nasal ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015393 LEXMATCH -MONDO:0015393 nasal ganglioglioma skos:closeMatch Orphanet:141115 Nasal ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015393 LEXMATCH -MONDO:0015393 nasal ganglioglioma skos:closeMatch Orphanet:141115 Nasal ganglioglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141115 LEXMATCH -MONDO:0015394 nasal encephalocele skos:closeMatch Orphanet:141118 Nasal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141118 LEXMATCH -MONDO:0015394 nasal encephalocele skos:closeMatch Orphanet:141118 Nasal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19951 LEXMATCH -MONDO:0015394 nasal encephalocele skos:closeMatch Orphanet:141118 Nasal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015394 LEXMATCH -MONDO:0015394 nasal encephalocele skos:closeMatch Orphanet:141118 Nasal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015394 LEXMATCH -MONDO:0015394 nasal encephalocele skos:closeMatch Orphanet:141118 Nasal encephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141118 LEXMATCH -MONDO:0015395 congenital subglottic stenosis skos:closeMatch Orphanet:141121 Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141121 LEXMATCH -MONDO:0015395 congenital subglottic stenosis skos:closeMatch Orphanet:141121 Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19952 LEXMATCH -MONDO:0015395 congenital subglottic stenosis skos:closeMatch Orphanet:141121 Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015395 LEXMATCH -MONDO:0015395 congenital subglottic stenosis skos:closeMatch Orphanet:141121 Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015395 LEXMATCH -MONDO:0015395 congenital subglottic stenosis skos:closeMatch Orphanet:141121 Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141121 LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339880 LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141124 LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19953 LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015396 LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015396 LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141124 LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141132 LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12074 LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015397 LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015397 LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141132 LEXMATCH -MONDO:0015399 glossopalatine ankylosis skos:closeMatch Orphanet:141163 Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141163 LEXMATCH -MONDO:0015399 glossopalatine ankylosis skos:closeMatch Orphanet:141163 Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19954 LEXMATCH -MONDO:0015399 glossopalatine ankylosis skos:closeMatch Orphanet:141163 Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015399 LEXMATCH -MONDO:0015399 glossopalatine ankylosis skos:closeMatch Orphanet:141163 Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015399 LEXMATCH -MONDO:0015399 glossopalatine ankylosis skos:closeMatch Orphanet:141163 Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141163 LEXMATCH -MONDO:0015400 frontonasal arteriovenous malformation skos:closeMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141168 LEXMATCH -MONDO:0015400 frontonasal arteriovenous malformation skos:closeMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19955 LEXMATCH -MONDO:0015400 frontonasal arteriovenous malformation skos:closeMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015400 LEXMATCH -MONDO:0015400 frontonasal arteriovenous malformation skos:closeMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015400 LEXMATCH -MONDO:0015400 frontonasal arteriovenous malformation skos:closeMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141168 LEXMATCH -MONDO:0015401 maxillary arteriovenous malformation skos:closeMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141171 LEXMATCH -MONDO:0015401 maxillary arteriovenous malformation skos:closeMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19956 LEXMATCH -MONDO:0015401 maxillary arteriovenous malformation skos:closeMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015401 LEXMATCH -MONDO:0015401 maxillary arteriovenous malformation skos:closeMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015401 LEXMATCH -MONDO:0015401 maxillary arteriovenous malformation skos:closeMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141171 LEXMATCH -MONDO:0015402 mandibular arteriovenous malformation skos:closeMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141174 LEXMATCH -MONDO:0015402 mandibular arteriovenous malformation skos:closeMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19957 LEXMATCH -MONDO:0015402 mandibular arteriovenous malformation skos:closeMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015402 LEXMATCH -MONDO:0015402 mandibular arteriovenous malformation skos:closeMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015402 LEXMATCH -MONDO:0015402 mandibular arteriovenous malformation skos:closeMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141174 LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275417 LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141179 LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10890 LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015403 LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015403 LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141179 LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275421 LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141184 LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19958 LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015404 LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015404 LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141184 LEXMATCH -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:closeMatch Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12662 LEXMATCH -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:closeMatch Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015405 LEXMATCH -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:closeMatch Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015405 LEXMATCH -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:closeMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141194 LEXMATCH -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:closeMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19959 LEXMATCH -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:closeMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015406 LEXMATCH -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:closeMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015406 LEXMATCH -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:closeMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141194 LEXMATCH -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:closeMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141199 LEXMATCH -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:closeMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19960 LEXMATCH -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:closeMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015407 LEXMATCH -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:closeMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015407 LEXMATCH -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:closeMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141199 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:closeMatch Orphanet:141209 Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141209 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:closeMatch Orphanet:141209 Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19961 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:closeMatch Orphanet:141209 Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015408 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:closeMatch Orphanet:141209 Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015408 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:closeMatch Orphanet:141209 Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141209 LEXMATCH -MONDO:0015409 isolated congenital syngnathia skos:closeMatch Orphanet:141214 Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141214 LEXMATCH -MONDO:0015409 isolated congenital syngnathia skos:closeMatch Orphanet:141214 Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19962 LEXMATCH -MONDO:0015409 isolated congenital syngnathia skos:closeMatch Orphanet:141214 Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015409 LEXMATCH -MONDO:0015409 isolated congenital syngnathia skos:closeMatch Orphanet:141214 Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015409 LEXMATCH -MONDO:0015409 isolated congenital syngnathia skos:closeMatch Orphanet:141214 Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141214 LEXMATCH -MONDO:0015410 nasal dorsum fistula/cyst skos:closeMatch Orphanet:141219 Nasal dorsum fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141219 LEXMATCH -MONDO:0015410 nasal dorsum fistula/cyst skos:closeMatch Orphanet:141219 Nasal dorsum fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19963 LEXMATCH -MONDO:0015410 nasal dorsum fistula/cyst skos:closeMatch Orphanet:141219 Nasal dorsum fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015410 LEXMATCH -MONDO:0015410 nasal dorsum fistula/cyst skos:closeMatch Orphanet:141219 Nasal dorsum fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015410 LEXMATCH -MONDO:0015410 nasal dorsum fistula/cyst skos:closeMatch Orphanet:141219 Nasal dorsum fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141219 LEXMATCH -MONDO:0015411 facial cleft skos:closeMatch Orphanet:141229 Facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141229 LEXMATCH -MONDO:0015411 facial cleft skos:closeMatch Orphanet:141229 Facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19964 LEXMATCH -MONDO:0015411 facial cleft skos:closeMatch Orphanet:141229 Facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015411 LEXMATCH -MONDO:0015411 facial cleft skos:closeMatch Orphanet:141229 Facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015411 LEXMATCH -MONDO:0015411 facial cleft skos:closeMatch Orphanet:141229 Facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141229 LEXMATCH -MONDO:0015412 median facial cleft skos:closeMatch Orphanet:141234 Median facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19965 LEXMATCH -MONDO:0015412 median facial cleft skos:closeMatch Orphanet:141234 Median facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015412 LEXMATCH -MONDO:0015412 median facial cleft skos:closeMatch Orphanet:141234 Median facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015412 LEXMATCH -MONDO:0015413 median cleft of the upper lip and maxilla skos:closeMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141239 LEXMATCH -MONDO:0015413 median cleft of the upper lip and maxilla skos:closeMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19966 LEXMATCH -MONDO:0015413 median cleft of the upper lip and maxilla skos:closeMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015413 LEXMATCH -MONDO:0015413 median cleft of the upper lip and maxilla skos:closeMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015413 LEXMATCH -MONDO:0015413 median cleft of the upper lip and maxilla skos:closeMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141239 LEXMATCH -MONDO:0015414 paramedian nasal cleft skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141242 LEXMATCH -MONDO:0015414 paramedian nasal cleft skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16973 LEXMATCH -MONDO:0015414 paramedian nasal cleft skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015414 LEXMATCH -MONDO:0015414 paramedian nasal cleft skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015414 LEXMATCH -MONDO:0015414 paramedian nasal cleft skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141242 LEXMATCH -MONDO:0015415 oblique facial cleft skos:closeMatch Orphanet:141253 Oblique facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19967 LEXMATCH -MONDO:0015415 oblique facial cleft skos:closeMatch Orphanet:141253 Oblique facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015415 LEXMATCH -MONDO:0015415 oblique facial cleft skos:closeMatch Orphanet:141253 Oblique facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015415 LEXMATCH -MONDO:0015416 Tessier number 5 facial cleft skos:closeMatch Orphanet:141261 Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141261 LEXMATCH -MONDO:0015416 Tessier number 5 facial cleft skos:closeMatch Orphanet:141261 Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19968 LEXMATCH -MONDO:0015416 Tessier number 5 facial cleft skos:closeMatch Orphanet:141261 Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015416 LEXMATCH -MONDO:0015416 Tessier number 5 facial cleft skos:closeMatch Orphanet:141261 Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015416 LEXMATCH -MONDO:0015416 Tessier number 5 facial cleft skos:closeMatch Orphanet:141261 Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141261 LEXMATCH -MONDO:0015417 Tessier number 6 facial cleft skos:closeMatch Orphanet:141265 Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141265 LEXMATCH -MONDO:0015417 Tessier number 6 facial cleft skos:closeMatch Orphanet:141265 Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19969 LEXMATCH -MONDO:0015417 Tessier number 6 facial cleft skos:closeMatch Orphanet:141265 Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015417 LEXMATCH -MONDO:0015417 Tessier number 6 facial cleft skos:closeMatch Orphanet:141265 Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015417 LEXMATCH -MONDO:0015417 Tessier number 6 facial cleft skos:closeMatch Orphanet:141265 Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141265 LEXMATCH -MONDO:0015418 lateral facial cleft skos:closeMatch Orphanet:141269 Lateral facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19970 LEXMATCH -MONDO:0015418 lateral facial cleft skos:closeMatch Orphanet:141269 Lateral facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015418 LEXMATCH -MONDO:0015418 lateral facial cleft skos:closeMatch Orphanet:141269 Lateral facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015418 LEXMATCH -MONDO:0015419 midline cervical cleft skos:closeMatch Orphanet:141288 Midline cervical cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141288 LEXMATCH -MONDO:0015419 midline cervical cleft skos:closeMatch Orphanet:141288 Midline cervical cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19971 LEXMATCH -MONDO:0015419 midline cervical cleft skos:closeMatch Orphanet:141288 Midline cervical cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015419 LEXMATCH -MONDO:0015419 midline cervical cleft skos:closeMatch Orphanet:141288 Midline cervical cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015419 LEXMATCH -MONDO:0015419 midline cervical cleft skos:closeMatch Orphanet:141288 Midline cervical cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141288 LEXMATCH -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141291 LEXMATCH -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16976 LEXMATCH -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015420 LEXMATCH -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015420 LEXMATCH -MONDO:0015420 cleft lip and alveolus skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141291 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932679 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141327 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10693 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015421 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015421 LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141327 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932680 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:141330 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10694 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015422 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015422 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:141330 LEXMATCH -MONDO:0015425 lethal recessive chondrodysplasia skos:closeMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1423 LEXMATCH -MONDO:0015425 lethal recessive chondrodysplasia skos:closeMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3399 LEXMATCH -MONDO:0015425 lethal recessive chondrodysplasia skos:closeMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015425 LEXMATCH -MONDO:0015425 lethal recessive chondrodysplasia skos:closeMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015425 LEXMATCH -MONDO:0015425 lethal recessive chondrodysplasia skos:closeMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1423 LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432242 LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1425 LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1818 LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015426 LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015426 LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1425 LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1431 LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18721 LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015427 LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015427 LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1431 LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931026 LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1433 LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3704 LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015428 LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015428 LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1433 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1437 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1320 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 1 syndrome LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015430 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015430 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1437 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265438 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1438 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1322 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 10 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 10 syndrome LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015431 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015431 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1438 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795843 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1439 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1325 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 12 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 12 syndrome LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015432 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015432 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1439 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1441 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4724 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 17 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 17 syndrome LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015433 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015433 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1441 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265475 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1442 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6077 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 18 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 18 syndrome LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015434 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015434 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1442 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1443 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1333 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 19 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 19 syndrome LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015435 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015435 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1443 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1444 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1334 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 20 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 20 syndrome LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015436 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015436 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1444 LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1445 LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6083 LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 21 syndrome LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015437 LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015437 LEXMATCH -MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1445 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1446 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1336 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 22 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 22 syndrome LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015438 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015438 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1446 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1447 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1339 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 4 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 4 syndrome LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015439 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015439 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1447 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1448 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6095 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 6 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 6 syndrome LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015440 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015440 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1448 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1449 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1345 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 7 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 7 syndrome LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015441 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015441 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1449 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1450 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1347 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 8 syndrome LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015443 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015443 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1450 LEXMATCH -MONDO:0015445 autosomal dominant coarctation of aorta skos:closeMatch Orphanet:1455 Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1455 LEXMATCH -MONDO:0015445 autosomal dominant coarctation of aorta skos:closeMatch Orphanet:1455 Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18722 LEXMATCH -MONDO:0015445 autosomal dominant coarctation of aorta skos:closeMatch Orphanet:1455 Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015445 LEXMATCH -MONDO:0015445 autosomal dominant coarctation of aorta skos:closeMatch Orphanet:1455 Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015445 LEXMATCH -MONDO:0015445 autosomal dominant coarctation of aorta skos:closeMatch Orphanet:1455 Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1455 LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3805239 LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1456 LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18723 LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015446 LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015446 LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1456 LEXMATCH -MONDO:0015447 differentiated thyroid carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:146 LEXMATCH -MONDO:0015447 differentiated thyroid carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12027 LEXMATCH -MONDO:0015447 differentiated thyroid carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015447 LEXMATCH -MONDO:0015447 differentiated thyroid carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015447 LEXMATCH -MONDO:0015447 differentiated thyroid carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:146 LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1460 LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8295 LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated complex iii deficiency LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015448 LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015448 LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1460 LEXMATCH -MONDO:0015449 criss-cross heart skos:closeMatch Orphanet:1461 Criss-cross heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1461 LEXMATCH -MONDO:0015449 criss-cross heart skos:closeMatch Orphanet:1461 Criss-cross heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18724 LEXMATCH -MONDO:0015449 criss-cross heart skos:closeMatch Orphanet:1461 Criss-cross heart semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015449 LEXMATCH -MONDO:0015449 criss-cross heart skos:closeMatch Orphanet:1461 Criss-cross heart semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015449 LEXMATCH -MONDO:0015449 criss-cross heart skos:closeMatch Orphanet:1461 Criss-cross heart semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1461 LEXMATCH -MONDO:0015450 triatrial heart skos:closeMatch Orphanet:1463 Triatrial heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1463 LEXMATCH -MONDO:0015450 triatrial heart skos:closeMatch Orphanet:1463 Triatrial heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6194 LEXMATCH -MONDO:0015450 triatrial heart skos:closeMatch Orphanet:1463 Triatrial heart semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015450 LEXMATCH -MONDO:0015450 triatrial heart skos:closeMatch Orphanet:1463 Triatrial heart semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015450 LEXMATCH -MONDO:0015450 triatrial heart skos:closeMatch Orphanet:1463 Triatrial heart semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1463 LEXMATCH -MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045545 LEXMATCH -MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1464 LEXMATCH -MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18725 LEXMATCH -MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015451 LEXMATCH -MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015451 LEXMATCH -MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1464 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1465 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6124 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015452 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015452 LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1465 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056667 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1467 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1421 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015453 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015453 LEXMATCH -MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1467 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028176 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:148 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3824 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015454 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015454 LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:148 LEXMATCH -MONDO:0015455 gonococcal conjunctivitis skos:closeMatch Orphanet:1482 Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1482 LEXMATCH -MONDO:0015455 gonococcal conjunctivitis skos:closeMatch Orphanet:1482 Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2546 LEXMATCH -MONDO:0015455 gonococcal conjunctivitis skos:closeMatch Orphanet:1482 Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015455 LEXMATCH -MONDO:0015455 gonococcal conjunctivitis skos:closeMatch Orphanet:1482 Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015455 LEXMATCH -MONDO:0015455 gonococcal conjunctivitis skos:closeMatch Orphanet:1482 Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1482 LEXMATCH -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:closeMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1495 LEXMATCH -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:closeMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12487 LEXMATCH -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:closeMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015458 LEXMATCH -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:closeMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015458 LEXMATCH -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:closeMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1495 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028793 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931822 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:150 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7163 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015459 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015459 LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:150 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1505 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18726 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015461 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015461 LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1505 LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931543 LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1506 LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18727 LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015462 LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015462 LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1506 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312860 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839311 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1514 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4776 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniodigital-intellectual disability syndrome LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015463 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015463 LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1514 LEXMATCH -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:closeMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1521 LEXMATCH -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:closeMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:428 LEXMATCH -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:closeMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015464 LEXMATCH -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:closeMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015464 LEXMATCH -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:closeMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1521 LEXMATCH -MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1522 LEXMATCH -MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15013 LEXMATCH -MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015465 LEXMATCH -MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015465 LEXMATCH -MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1522 LEXMATCH -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1525 LEXMATCH -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1564 LEXMATCH -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015466 LEXMATCH -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015466 LEXMATCH -MONDO:0015466 cranio-osteoarthropathy skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1525 LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1527 LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1601 LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015467 LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015467 LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1527 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048907 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049889 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1531 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6209 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015469 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015469 LEXMATCH -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1531 LEXMATCH -MONDO:0015471 benign focal seizures of adolescence skos:closeMatch Orphanet:1544 Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1544 LEXMATCH -MONDO:0015471 benign focal seizures of adolescence skos:closeMatch Orphanet:1544 Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18728 LEXMATCH -MONDO:0015471 benign focal seizures of adolescence skos:closeMatch Orphanet:1544 Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015471 LEXMATCH -MONDO:0015471 benign focal seizures of adolescence skos:closeMatch Orphanet:1544 Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015471 LEXMATCH -MONDO:0015471 benign focal seizures of adolescence skos:closeMatch Orphanet:1544 Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1544 LEXMATCH -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:closeMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1548 LEXMATCH -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:closeMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:860 LEXMATCH -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:closeMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015473 LEXMATCH -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:closeMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015473 LEXMATCH -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:closeMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1548 LEXMATCH -MONDO:0015476 cysts and fistulae of the face and oral cavity skos:closeMatch Orphanet:155835 Cysts and fistulae of the face and oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19973 LEXMATCH -MONDO:0015476 cysts and fistulae of the face and oral cavity skos:closeMatch Orphanet:155835 Cysts and fistulae of the face and oral cavity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015476 LEXMATCH -MONDO:0015476 cysts and fistulae of the face and oral cavity skos:closeMatch Orphanet:155835 Cysts and fistulae of the face and oral cavity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015476 LEXMATCH -MONDO:0015477 pinnae fistula or cyst skos:closeMatch Orphanet:155838 Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:155838 LEXMATCH -MONDO:0015477 pinnae fistula or cyst skos:closeMatch Orphanet:155838 Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19974 LEXMATCH -MONDO:0015477 pinnae fistula or cyst skos:closeMatch Orphanet:155838 Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015477 LEXMATCH -MONDO:0015477 pinnae fistula or cyst skos:closeMatch Orphanet:155838 Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015477 LEXMATCH -MONDO:0015477 pinnae fistula or cyst skos:closeMatch Orphanet:155838 Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:155838 LEXMATCH -MONDO:0015478 paramedian facial cleft skos:closeMatch Orphanet:155867 Paramedian facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19975 LEXMATCH -MONDO:0015478 paramedian facial cleft skos:closeMatch Orphanet:155867 Paramedian facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015478 LEXMATCH -MONDO:0015478 paramedian facial cleft skos:closeMatch Orphanet:155867 Paramedian facial cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015478 LEXMATCH -MONDO:0015479 submucosal cleft palate skos:closeMatch Orphanet:155878 Submucosal cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:155878 LEXMATCH -MONDO:0015479 submucosal cleft palate skos:closeMatch Orphanet:155878 Submucosal cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19976 LEXMATCH -MONDO:0015479 submucosal cleft palate skos:closeMatch Orphanet:155878 Submucosal cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015479 LEXMATCH -MONDO:0015479 submucosal cleft palate skos:closeMatch Orphanet:155878 Submucosal cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015479 LEXMATCH -MONDO:0015479 submucosal cleft palate skos:closeMatch Orphanet:155878 Submucosal cleft palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:155878 LEXMATCH -MONDO:0015480 coloboma of superior eyelid skos:closeMatch Orphanet:155884 Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:155884 LEXMATCH -MONDO:0015480 coloboma of superior eyelid skos:closeMatch Orphanet:155884 Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19977 LEXMATCH -MONDO:0015480 coloboma of superior eyelid skos:closeMatch Orphanet:155884 Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015480 LEXMATCH -MONDO:0015480 coloboma of superior eyelid skos:closeMatch Orphanet:155884 Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015480 LEXMATCH -MONDO:0015480 coloboma of superior eyelid skos:closeMatch Orphanet:155884 Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:155884 LEXMATCH -MONDO:0015481 coloboma of inferior eyelid skos:closeMatch Orphanet:155889 Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:155889 LEXMATCH -MONDO:0015481 coloboma of inferior eyelid skos:closeMatch Orphanet:155889 Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19978 LEXMATCH -MONDO:0015481 coloboma of inferior eyelid skos:closeMatch Orphanet:155889 Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015481 LEXMATCH -MONDO:0015481 coloboma of inferior eyelid skos:closeMatch Orphanet:155889 Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015481 LEXMATCH -MONDO:0015481 coloboma of inferior eyelid skos:closeMatch Orphanet:155889 Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:155889 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:155899 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19980 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015483 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015483 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:155899 LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010678 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1560 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8194 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015484 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015484 LEXMATCH -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1560 LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1561 LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16569 LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile cytochrome c oxidase deficiency LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015487 LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015487 LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1561 LEXMATCH -MONDO:0015491 immune complex mediated vasculitis skos:closeMatch Orphanet:156149 Immune complex mediated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19984 LEXMATCH -MONDO:0015491 immune complex mediated vasculitis skos:closeMatch Orphanet:156149 Immune complex mediated vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015491 LEXMATCH -MONDO:0015491 immune complex mediated vasculitis skos:closeMatch Orphanet:156149 Immune complex mediated vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015491 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717865 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156152 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13011 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015492 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015492 LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156152 LEXMATCH -MONDO:0015494 isolated dystonia skos:closeMatch Orphanet:156159 Isolated dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19985 LEXMATCH -MONDO:0015494 isolated dystonia skos:closeMatch Orphanet:156159 Isolated dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015494 LEXMATCH -MONDO:0015494 isolated dystonia skos:closeMatch Orphanet:156159 Isolated dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015494 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025391 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156207 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3342 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015496 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015496 LEXMATCH -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156207 LEXMATCH -MONDO:0015497 hypoglossia/aglossia skos:closeMatch Orphanet:156212 Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156212 LEXMATCH -MONDO:0015497 hypoglossia/aglossia skos:closeMatch Orphanet:156212 Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19995 LEXMATCH -MONDO:0015497 hypoglossia/aglossia skos:closeMatch Orphanet:156212 Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015497 LEXMATCH -MONDO:0015497 hypoglossia/aglossia skos:closeMatch Orphanet:156212 Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015497 LEXMATCH -MONDO:0015497 hypoglossia/aglossia skos:closeMatch Orphanet:156212 Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156212 LEXMATCH -MONDO:0015498 oromandibular-limb anomalies syndrome skos:closeMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:156215 LEXMATCH -MONDO:0015498 oromandibular-limb anomalies syndrome skos:closeMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19996 LEXMATCH -MONDO:0015498 oromandibular-limb anomalies syndrome skos:closeMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015498 LEXMATCH -MONDO:0015498 oromandibular-limb anomalies syndrome skos:closeMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015498 LEXMATCH -MONDO:0015498 oromandibular-limb anomalies syndrome skos:closeMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:156215 LEXMATCH -MONDO:0015499 paralytic facial malformation skos:closeMatch Orphanet:156224 Paralytic facial malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19997 LEXMATCH -MONDO:0015499 paralytic facial malformation skos:closeMatch Orphanet:156224 Paralytic facial malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015499 LEXMATCH -MONDO:0015499 paralytic facial malformation skos:closeMatch Orphanet:156224 Paralytic facial malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015499 LEXMATCH -MONDO:0015500 facial arteriovenous malformation skos:closeMatch Orphanet:156230 Facial arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12663 LEXMATCH -MONDO:0015500 facial arteriovenous malformation skos:closeMatch Orphanet:156230 Facial arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015500 LEXMATCH -MONDO:0015500 facial arteriovenous malformation skos:closeMatch Orphanet:156230 Facial arteriovenous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015500 LEXMATCH -MONDO:0015514 hereditary endocrine growth disease skos:closeMatch Orphanet:156643 Genetic endocrine growth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20012 LEXMATCH -MONDO:0015514 hereditary endocrine growth disease skos:closeMatch Orphanet:156643 Genetic endocrine growth disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015514 LEXMATCH -MONDO:0015514 hereditary endocrine growth disease skos:closeMatch Orphanet:156643 Genetic endocrine growth disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015514 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1121 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015515 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015515 LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157 LEXMATCH -MONDO:0015516 symbrachydactyly of hands and feet skos:closeMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1570 LEXMATCH -MONDO:0015516 symbrachydactyly of hands and feet skos:closeMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1680 LEXMATCH -MONDO:0015516 symbrachydactyly of hands and feet skos:closeMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015516 LEXMATCH -MONDO:0015516 symbrachydactyly of hands and feet skos:closeMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015516 LEXMATCH -MONDO:0015516 symbrachydactyly of hands and feet skos:closeMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1570 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021449 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009447 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1572 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6140 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015517 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015517 LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1572 LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795996 LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1576 LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5040 LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015518 LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015518 LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1576 LEXMATCH -MONDO:0015519 congenital or early infantile CACH syndrome skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157713 LEXMATCH -MONDO:0015519 congenital or early infantile CACH syndrome skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16978 LEXMATCH -MONDO:0015519 congenital or early infantile CACH syndrome skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015519 LEXMATCH -MONDO:0015519 congenital or early infantile CACH syndrome skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015519 LEXMATCH -MONDO:0015519 congenital or early infantile CACH syndrome skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157713 LEXMATCH -MONDO:0015520 late infantile CACH syndrome skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157716 LEXMATCH -MONDO:0015520 late infantile CACH syndrome skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16979 LEXMATCH -MONDO:0015520 late infantile CACH syndrome skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015520 LEXMATCH -MONDO:0015520 late infantile CACH syndrome skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015520 LEXMATCH -MONDO:0015520 late infantile CACH syndrome skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157716 LEXMATCH -MONDO:0015521 juvenile or adult CACH syndrome skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157719 LEXMATCH -MONDO:0015521 juvenile or adult CACH syndrome skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16980 LEXMATCH -MONDO:0015521 juvenile or adult CACH syndrome skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015521 LEXMATCH -MONDO:0015521 juvenile or adult CACH syndrome skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015521 LEXMATCH -MONDO:0015521 juvenile or adult CACH syndrome skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157719 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018323 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206732 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157791 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20014 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015523 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015523 LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157791 LEXMATCH -MONDO:0015524 hyperplastic polyposis syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157798 LEXMATCH -MONDO:0015524 hyperplastic polyposis syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16982 LEXMATCH -MONDO:0015524 hyperplastic polyposis syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015524 LEXMATCH -MONDO:0015524 hyperplastic polyposis syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015524 LEXMATCH -MONDO:0015524 hyperplastic polyposis syndrome skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157798 LEXMATCH -MONDO:0015525 congenital pseudoarthrosis of the limbs skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157808 LEXMATCH -MONDO:0015525 congenital pseudoarthrosis of the limbs skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20015 LEXMATCH -MONDO:0015525 congenital pseudoarthrosis of the limbs skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015525 LEXMATCH -MONDO:0015525 congenital pseudoarthrosis of the limbs skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015525 LEXMATCH -MONDO:0015525 congenital pseudoarthrosis of the limbs skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157808 LEXMATCH -MONDO:0015526 cold-induced sweating syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157820 LEXMATCH -MONDO:0015526 cold-induced sweating syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16983 LEXMATCH -MONDO:0015526 cold-induced sweating syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015526 LEXMATCH -MONDO:0015526 cold-induced sweating syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015526 LEXMATCH -MONDO:0015526 cold-induced sweating syndrome skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157820 LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376319 LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157826 LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20016 LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital granular cell tumor LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015528 LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015528 LEXMATCH -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157826 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399352 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157835 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10794 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015529 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015529 LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157835 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1565172 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157843 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20017 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015530 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015530 LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157843 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019624 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157987 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8231 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015531 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015531 LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157987 LEXMATCH -MONDO:0015532 generalized eruptive histiocytosis skos:closeMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157991 LEXMATCH -MONDO:0015532 generalized eruptive histiocytosis skos:closeMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20018 LEXMATCH -MONDO:0015532 generalized eruptive histiocytosis skos:closeMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015532 LEXMATCH -MONDO:0015532 generalized eruptive histiocytosis skos:closeMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015532 LEXMATCH -MONDO:0015532 generalized eruptive histiocytosis skos:closeMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157991 LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0347403 LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157997 LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20019 LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015533 LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015533 LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157997 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043324 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158000 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20020 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015534 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015534 LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158000 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052575 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043322 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158003 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13186 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015535 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015535 LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158003 LEXMATCH -MONDO:0015536 papular xanthoma skos:closeMatch Orphanet:158008 Papular xanthoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158008 LEXMATCH -MONDO:0015536 papular xanthoma skos:closeMatch Orphanet:158008 Papular xanthoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20021 LEXMATCH -MONDO:0015536 papular xanthoma skos:closeMatch Orphanet:158008 Papular xanthoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015536 LEXMATCH -MONDO:0015536 papular xanthoma skos:closeMatch Orphanet:158008 Papular xanthoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015536 LEXMATCH -MONDO:0015536 papular xanthoma skos:closeMatch Orphanet:158008 Papular xanthoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158008 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275339 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158011 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10951 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015537 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015537 LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158011 LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:closeMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158019 LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:closeMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20022 LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:closeMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015538 LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:closeMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015538 LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:closeMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158019 LEXMATCH -MONDO:0015539 progressive nodular histiocytosis skos:closeMatch Orphanet:158022 Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158022 LEXMATCH -MONDO:0015539 progressive nodular histiocytosis skos:closeMatch Orphanet:158022 Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20023 LEXMATCH -MONDO:0015539 progressive nodular histiocytosis skos:closeMatch Orphanet:158022 Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015539 LEXMATCH -MONDO:0015539 progressive nodular histiocytosis skos:closeMatch Orphanet:158022 Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015539 LEXMATCH -MONDO:0015539 progressive nodular histiocytosis skos:closeMatch Orphanet:158022 Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158022 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058125 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024291 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158032 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20024 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015540 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015540 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158032 LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158038 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20025 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015541 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015541 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158038 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:540 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6589 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015541 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015541 LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:540 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158041 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20026 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015542 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015542 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158041 LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158048 Hemophagocytic syndrome associated with an infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 LEXMATCH -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:closeMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158057 LEXMATCH -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:closeMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20027 LEXMATCH -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:closeMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015544 LEXMATCH -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:closeMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015544 LEXMATCH -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:closeMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158057 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053867 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096155 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158061 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12124 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015545 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015545 LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158061 LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:closeMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1581 LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:closeMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18729 LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:closeMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015546 LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:closeMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015546 LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:closeMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1581 LEXMATCH -MONDO:0015547 hereditary dementia skos:closeMatch Orphanet:158124 Genetic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20028 LEXMATCH -MONDO:0015547 hereditary dementia skos:closeMatch Orphanet:158124 Genetic dementia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015547 LEXMATCH -MONDO:0015547 hereditary dementia skos:closeMatch Orphanet:158124 Genetic dementia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015547 LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711380 LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158266 LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20029 LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015548 LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015548 LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158266 LEXMATCH -MONDO:0015552 acral dystrophic epidermolysis bullosa skos:closeMatch Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158673 LEXMATCH -MONDO:0015552 acral dystrophic epidermolysis bullosa skos:closeMatch Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20031 LEXMATCH -MONDO:0015552 acral dystrophic epidermolysis bullosa skos:closeMatch Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015552 LEXMATCH -MONDO:0015552 acral dystrophic epidermolysis bullosa skos:closeMatch Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015552 LEXMATCH -MONDO:0015552 acral dystrophic epidermolysis bullosa skos:closeMatch Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158673 LEXMATCH -MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:closeMatch Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158676 LEXMATCH -MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:closeMatch Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20032 LEXMATCH -MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:closeMatch Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015553 LEXMATCH -MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:closeMatch Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015553 LEXMATCH -MONDO:0015553 dystrophic epidermolysis bullosa, nails only skos:closeMatch Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158676 LEXMATCH -MONDO:0015554 typical urticaria pigmentosa skos:closeMatch Orphanet:158766 Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158766 LEXMATCH -MONDO:0015554 typical urticaria pigmentosa skos:closeMatch Orphanet:158766 Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20033 LEXMATCH -MONDO:0015554 typical urticaria pigmentosa skos:closeMatch Orphanet:158766 Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015554 LEXMATCH -MONDO:0015554 typical urticaria pigmentosa skos:closeMatch Orphanet:158766 Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015554 LEXMATCH -MONDO:0015554 typical urticaria pigmentosa skos:closeMatch Orphanet:158766 Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158766 LEXMATCH -MONDO:0015555 plaque-form urticaria pigmentosa skos:closeMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158769 LEXMATCH -MONDO:0015555 plaque-form urticaria pigmentosa skos:closeMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20034 LEXMATCH -MONDO:0015555 plaque-form urticaria pigmentosa skos:closeMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015555 LEXMATCH -MONDO:0015555 plaque-form urticaria pigmentosa skos:closeMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015555 LEXMATCH -MONDO:0015555 plaque-form urticaria pigmentosa skos:closeMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158769 LEXMATCH -MONDO:0015556 nodular urticaria pigmentosa skos:closeMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158772 LEXMATCH -MONDO:0015556 nodular urticaria pigmentosa skos:closeMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20035 LEXMATCH -MONDO:0015556 nodular urticaria pigmentosa skos:closeMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015556 LEXMATCH -MONDO:0015556 nodular urticaria pigmentosa skos:closeMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015556 LEXMATCH -MONDO:0015556 nodular urticaria pigmentosa skos:closeMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158772 LEXMATCH -MONDO:0015557 Smouldering systemic mastocytosis skos:closeMatch Orphanet:158775 Smoldering systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158775 LEXMATCH -MONDO:0015557 Smouldering systemic mastocytosis skos:closeMatch Orphanet:158775 Smoldering systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20036 LEXMATCH -MONDO:0015557 Smouldering systemic mastocytosis skos:closeMatch Orphanet:158775 Smoldering systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015557 LEXMATCH -MONDO:0015557 Smouldering systemic mastocytosis skos:closeMatch Orphanet:158775 Smoldering systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015557 LEXMATCH -MONDO:0015557 Smouldering systemic mastocytosis skos:closeMatch Orphanet:158775 Smoldering systemic mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158775 LEXMATCH -MONDO:0015558 isolated bone marrow mastocytosis skos:closeMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:158778 LEXMATCH -MONDO:0015558 isolated bone marrow mastocytosis skos:closeMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20037 LEXMATCH -MONDO:0015558 isolated bone marrow mastocytosis skos:closeMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015558 LEXMATCH -MONDO:0015558 isolated bone marrow mastocytosis skos:closeMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015558 LEXMATCH -MONDO:0015558 isolated bone marrow mastocytosis skos:closeMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:158778 LEXMATCH -MONDO:0015562 distal monosomy 17q skos:closeMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1597 LEXMATCH -MONDO:0015562 distal monosomy 17q skos:closeMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10972 LEXMATCH -MONDO:0015562 distal monosomy 17q skos:closeMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015562 LEXMATCH -MONDO:0015562 distal monosomy 17q skos:closeMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015562 LEXMATCH -MONDO:0015562 distal monosomy 17q skos:closeMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1597 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017531 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:160 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12656 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015564 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015564 LEXMATCH -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:160 LEXMATCH -MONDO:0015565 cap polyposis skos:closeMatch Orphanet:160148 Cap polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:160148 LEXMATCH -MONDO:0015565 cap polyposis skos:closeMatch Orphanet:160148 Cap polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20038 LEXMATCH -MONDO:0015565 cap polyposis skos:closeMatch Orphanet:160148 Cap polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015565 LEXMATCH -MONDO:0015565 cap polyposis skos:closeMatch Orphanet:160148 Cap polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015565 LEXMATCH -MONDO:0015565 cap polyposis skos:closeMatch Orphanet:160148 Cap polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:160148 LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1617 LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3746 LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015566 LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015566 LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1617 LEXMATCH -MONDO:0015567 cataract-glaucoma syndrome skos:closeMatch Orphanet:162 Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:162 LEXMATCH -MONDO:0015567 cataract-glaucoma syndrome skos:closeMatch Orphanet:162 Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1160 LEXMATCH -MONDO:0015567 cataract-glaucoma syndrome skos:closeMatch Orphanet:162 Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015567 LEXMATCH -MONDO:0015567 cataract-glaucoma syndrome skos:closeMatch Orphanet:162 Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015567 LEXMATCH -MONDO:0015567 cataract-glaucoma syndrome skos:closeMatch Orphanet:162 Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:162 LEXMATCH -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:closeMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:162516 LEXMATCH -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:closeMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20039 LEXMATCH -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:closeMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015568 LEXMATCH -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:closeMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015568 LEXMATCH -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:closeMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:162516 LEXMATCH -MONDO:0015570 isolated congenital auditory ossicle malformation skos:closeMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:162526 LEXMATCH -MONDO:0015570 isolated congenital auditory ossicle malformation skos:closeMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20040 LEXMATCH -MONDO:0015570 isolated congenital auditory ossicle malformation skos:closeMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015570 LEXMATCH -MONDO:0015570 isolated congenital auditory ossicle malformation skos:closeMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015570 LEXMATCH -MONDO:0015570 isolated congenital auditory ossicle malformation skos:closeMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:162526 LEXMATCH -MONDO:0015571 deletion 5q35 skos:closeMatch Orphanet:1627 Deletion 5q35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1627 LEXMATCH -MONDO:0015571 deletion 5q35 skos:closeMatch Orphanet:1627 Deletion 5q35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18730 LEXMATCH -MONDO:0015571 deletion 5q35 skos:closeMatch Orphanet:1627 Deletion 5q35 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015571 LEXMATCH -MONDO:0015571 deletion 5q35 skos:closeMatch Orphanet:1627 Deletion 5q35 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015571 LEXMATCH -MONDO:0015571 deletion 5q35 skos:closeMatch Orphanet:1627 Deletion 5q35 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1627 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057903 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024140 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163525 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20042 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015573 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015573 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163525 LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057929 LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163531 LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20043 LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015574 LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015574 LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163531 LEXMATCH -MONDO:0015579 Hb Bart's hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163596 LEXMATCH -MONDO:0015579 Hb Bart's hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16992 LEXMATCH -MONDO:0015579 Hb Bart's hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015579 LEXMATCH -MONDO:0015579 Hb Bart's hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015579 LEXMATCH -MONDO:0015579 Hb Bart's hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163596 LEXMATCH -MONDO:0015580 distal monosomy 7q36 skos:closeMatch Orphanet:1636 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1636 LEXMATCH -MONDO:0015580 distal monosomy 7q36 skos:closeMatch Orphanet:1636 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18731 LEXMATCH -MONDO:0015580 distal monosomy 7q36 skos:closeMatch Orphanet:1636 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015580 LEXMATCH -MONDO:0015580 distal monosomy 7q36 skos:closeMatch Orphanet:1636 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015580 LEXMATCH -MONDO:0015580 distal monosomy 7q36 skos:closeMatch Orphanet:1636 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1636 LEXMATCH -MONDO:0015583 2p21 microdeletion syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163693 LEXMATCH -MONDO:0015583 2p21 microdeletion syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16999 LEXMATCH -MONDO:0015583 2p21 microdeletion syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015583 LEXMATCH -MONDO:0015583 2p21 microdeletion syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015583 LEXMATCH -MONDO:0015583 2p21 microdeletion syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163693 LEXMATCH -MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163703 LEXMATCH -MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11005 LEXMATCH -MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015584 LEXMATCH -MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015584 LEXMATCH -MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163703 LEXMATCH -MONDO:0015585 cryptogenic late-onset epileptic spasms skos:closeMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163708 LEXMATCH -MONDO:0015585 cryptogenic late-onset epileptic spasms skos:closeMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20050 LEXMATCH -MONDO:0015585 cryptogenic late-onset epileptic spasms skos:closeMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015585 LEXMATCH -MONDO:0015585 cryptogenic late-onset epileptic spasms skos:closeMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015585 LEXMATCH -MONDO:0015585 cryptogenic late-onset epileptic spasms skos:closeMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163708 LEXMATCH -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163721 LEXMATCH -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17002 LEXMATCH -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015587 LEXMATCH -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015587 LEXMATCH -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163721 LEXMATCH -MONDO:0015595 posttransplant acute limbic encephalitis skos:closeMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163921 LEXMATCH -MONDO:0015595 posttransplant acute limbic encephalitis skos:closeMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20051 LEXMATCH -MONDO:0015595 posttransplant acute limbic encephalitis skos:closeMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015595 LEXMATCH -MONDO:0015595 posttransplant acute limbic encephalitis skos:closeMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015595 LEXMATCH -MONDO:0015595 posttransplant acute limbic encephalitis skos:closeMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163921 LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050185 LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163927 LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12820 LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015597 LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015597 LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163927 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069664 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274788 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163934 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20053 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015599 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015599 LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163934 LEXMATCH -MONDO:0015600 X-linked intellectual disability, Cilliers type skos:closeMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163971 LEXMATCH -MONDO:0015600 X-linked intellectual disability, Cilliers type skos:closeMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20054 LEXMATCH -MONDO:0015600 X-linked intellectual disability, Cilliers type skos:closeMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015600 LEXMATCH -MONDO:0015600 X-linked intellectual disability, Cilliers type skos:closeMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015600 LEXMATCH -MONDO:0015600 X-linked intellectual disability, Cilliers type skos:closeMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163971 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:163976 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17008 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015601 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015601 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301030 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:163976 LEXMATCH -MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060957 LEXMATCH -MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:164004 LEXMATCH -MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20056 LEXMATCH -MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015604 LEXMATCH -MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015604 LEXMATCH -MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle and/or inner ear anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:164004 LEXMATCH -MONDO:0015605 distal monosomy 9p skos:closeMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1642 LEXMATCH -MONDO:0015605 distal monosomy 9p skos:closeMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18732 LEXMATCH -MONDO:0015605 distal monosomy 9p skos:closeMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015605 LEXMATCH -MONDO:0015605 distal monosomy 9p skos:closeMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015605 LEXMATCH -MONDO:0015605 distal monosomy 9p skos:closeMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1642 LEXMATCH -MONDO:0015606 Xp22.3 microdeletion syndrome skos:closeMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1643 LEXMATCH -MONDO:0015606 Xp22.3 microdeletion syndrome skos:closeMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18733 LEXMATCH -MONDO:0015606 Xp22.3 microdeletion syndrome skos:closeMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015606 LEXMATCH -MONDO:0015606 Xp22.3 microdeletion syndrome skos:closeMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015606 LEXMATCH -MONDO:0015606 Xp22.3 microdeletion syndrome skos:closeMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1643 LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536297 LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1646 LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16574 LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015607 LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015607 LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1646 LEXMATCH -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:closeMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:164726 LEXMATCH -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:closeMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20057 LEXMATCH -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:closeMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015608 LEXMATCH -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:closeMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015608 LEXMATCH -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:closeMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:164726 LEXMATCH -MONDO:0015609 advanced sleep phase syndrome skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:164736 LEXMATCH -MONDO:0015609 advanced sleep phase syndrome skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9242 LEXMATCH -MONDO:0015609 advanced sleep phase syndrome skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015609 LEXMATCH -MONDO:0015609 advanced sleep phase syndrome skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015609 LEXMATCH -MONDO:0015609 advanced sleep phase syndrome skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:164736 LEXMATCH -MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20058 LEXMATCH -MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare acquired aplastic anemia LEXMATCH -MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015610 LEXMATCH -MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015610 LEXMATCH -MONDO:0015611 neutral lipid storage disease skos:closeMatch Orphanet:165 Neutral lipid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:165 LEXMATCH -MONDO:0015611 neutral lipid storage disease skos:closeMatch Orphanet:165 Neutral lipid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3262 LEXMATCH -MONDO:0015611 neutral lipid storage disease skos:closeMatch Orphanet:165 Neutral lipid storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015611 LEXMATCH -MONDO:0015611 neutral lipid storage disease skos:closeMatch Orphanet:165 Neutral lipid storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015611 LEXMATCH -MONDO:0015611 neutral lipid storage disease skos:closeMatch Orphanet:165 Neutral lipid storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:165 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878681 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1652 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13105 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015612 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015612 LEXMATCH -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1652 LEXMATCH -MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 LEXMATCH -MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1653 LEXMATCH -MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16575 LEXMATCH -MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015613 LEXMATCH -MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015613 LEXMATCH -MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1653 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012468 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003874 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011608 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1656 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1917 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015614 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015614 LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1656 LEXMATCH -MONDO:0015619 non-syndromic urogenital tract malformation skos:closeMatch Orphanet:165704 Non-syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20063 LEXMATCH -MONDO:0015619 non-syndromic urogenital tract malformation skos:closeMatch Orphanet:165704 Non-syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015619 LEXMATCH -MONDO:0015619 non-syndromic urogenital tract malformation skos:closeMatch Orphanet:165704 Non-syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015619 LEXMATCH -MONDO:0015620 syndromic urogenital tract malformation skos:closeMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20064 LEXMATCH -MONDO:0015620 syndromic urogenital tract malformation skos:closeMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015620 LEXMATCH -MONDO:0015620 syndromic urogenital tract malformation skos:closeMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015620 LEXMATCH -MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344061 LEXMATCH -MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:165955 LEXMATCH -MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20065 LEXMATCH -MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015622 LEXMATCH -MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015622 LEXMATCH -MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:165955 LEXMATCH -MONDO:0015623 cavitary myiasis skos:closeMatch Orphanet:165958 Cavitary myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:165958 LEXMATCH -MONDO:0015623 cavitary myiasis skos:closeMatch Orphanet:165958 Cavitary myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20066 LEXMATCH -MONDO:0015623 cavitary myiasis skos:closeMatch Orphanet:165958 Cavitary myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015623 LEXMATCH -MONDO:0015623 cavitary myiasis skos:closeMatch Orphanet:165958 Cavitary myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015623 LEXMATCH -MONDO:0015623 cavitary myiasis skos:closeMatch Orphanet:165958 Cavitary myiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:165958 LEXMATCH -MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:closeMatch Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20067 LEXMATCH -MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:closeMatch Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015624 LEXMATCH -MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:closeMatch Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015624 LEXMATCH -MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:closeMatch Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20068 LEXMATCH -MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:closeMatch Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015625 LEXMATCH -MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:closeMatch Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015625 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034699 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6034 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disease/hereditary motor and sensory neuropathy LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015626 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015626 LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166 LEXMATCH -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166002 LEXMATCH -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15024 LEXMATCH -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015627 LEXMATCH -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015627 LEXMATCH -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166002 LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282968 LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166084 LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17021 LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015628 LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015628 LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166084 LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282971 LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166087 LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17022 LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015629 LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015629 LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166087 LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282974 LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166090 LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17023 LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015630 LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015630 LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166090 LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282975 LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166093 LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17024 LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015631 LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015631 LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166093 LEXMATCH -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166105 LEXMATCH -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17026 LEXMATCH -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015632 LEXMATCH -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015632 LEXMATCH -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166105 LEXMATCH -MONDO:0015634 isolated osteopoikilosis skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166119 LEXMATCH -MONDO:0015634 isolated osteopoikilosis skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17027 LEXMATCH -MONDO:0015634 isolated osteopoikilosis skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015634 LEXMATCH -MONDO:0015634 isolated osteopoikilosis skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015634 LEXMATCH -MONDO:0015634 isolated osteopoikilosis skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166119 LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473579 LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166286 LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20070 LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015635 LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015635 LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:closeMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166286 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004184 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012602 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166291 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11908 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015636 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015636 LEXMATCH -MONDO:0015636 dirofilariasis skos:closeMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166291 LEXMATCH -MONDO:0015637 benign non-familial infantile seizures skos:closeMatch Orphanet:166295 Benign non-familial infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20071 LEXMATCH -MONDO:0015637 benign non-familial infantile seizures skos:closeMatch Orphanet:166295 Benign non-familial infantile seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015637 LEXMATCH -MONDO:0015637 benign non-familial infantile seizures skos:closeMatch Orphanet:166295 Benign non-familial infantile seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015637 LEXMATCH -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:closeMatch Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166299 LEXMATCH -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:closeMatch Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20072 LEXMATCH -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:closeMatch Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015638 LEXMATCH -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:closeMatch Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015638 LEXMATCH -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:closeMatch Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166299 LEXMATCH -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:closeMatch Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166302 LEXMATCH -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:closeMatch Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20073 LEXMATCH -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:closeMatch Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015639 LEXMATCH -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:closeMatch Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015639 LEXMATCH -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:closeMatch Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166302 LEXMATCH -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:closeMatch Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166305 LEXMATCH -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:closeMatch Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20074 LEXMATCH -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:closeMatch Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015640 LEXMATCH -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:closeMatch Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015640 LEXMATCH -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:closeMatch Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166305 LEXMATCH -MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166308 LEXMATCH -MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20075 LEXMATCH -MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign infantile focal epilepsy with midline spikes and waves during sleep LEXMATCH -MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015641 LEXMATCH -MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015641 LEXMATCH -MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep skos:closeMatch Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166308 LEXMATCH -MONDO:0015642 benign partial infantile seizures skos:closeMatch Orphanet:166311 Benign partial infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20076 LEXMATCH -MONDO:0015642 benign partial infantile seizures skos:closeMatch Orphanet:166311 Benign partial infantile seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015642 LEXMATCH -MONDO:0015642 benign partial infantile seizures skos:closeMatch Orphanet:166311 Benign partial infantile seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015642 LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393720 LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166409 LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5648 LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015643 LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015643 LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166409 LEXMATCH -MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751791 LEXMATCH -MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166415 LEXMATCH -MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20077 LEXMATCH -MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015644 LEXMATCH -MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015644 LEXMATCH -MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166415 LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393725 LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166418 LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20078 LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eating reflex epilepsy LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015645 LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015645 LEXMATCH -MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166418 LEXMATCH -MONDO:0015646 orgasm-induced seizures skos:closeMatch Orphanet:166421 Orgasm-induced seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166421 LEXMATCH -MONDO:0015646 orgasm-induced seizures skos:closeMatch Orphanet:166421 Orgasm-induced seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20079 LEXMATCH -MONDO:0015646 orgasm-induced seizures skos:closeMatch Orphanet:166421 Orgasm-induced seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015646 LEXMATCH -MONDO:0015646 orgasm-induced seizures skos:closeMatch Orphanet:166421 Orgasm-induced seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015646 LEXMATCH -MONDO:0015646 orgasm-induced seizures skos:closeMatch Orphanet:166421 Orgasm-induced seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166421 LEXMATCH -MONDO:0015647 thinking seizures skos:closeMatch Orphanet:166424 Thinking seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166424 LEXMATCH -MONDO:0015647 thinking seizures skos:closeMatch Orphanet:166424 Thinking seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20080 LEXMATCH -MONDO:0015647 thinking seizures skos:closeMatch Orphanet:166424 Thinking seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015647 LEXMATCH -MONDO:0015647 thinking seizures skos:closeMatch Orphanet:166424 Thinking seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015647 LEXMATCH -MONDO:0015647 thinking seizures skos:closeMatch Orphanet:166424 Thinking seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166424 LEXMATCH -MONDO:0015648 startle epilepsy skos:closeMatch Orphanet:166427 Startle epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166427 LEXMATCH -MONDO:0015648 startle epilepsy skos:closeMatch Orphanet:166427 Startle epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20081 LEXMATCH -MONDO:0015648 startle epilepsy skos:closeMatch Orphanet:166427 Startle epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015648 LEXMATCH -MONDO:0015648 startle epilepsy skos:closeMatch Orphanet:166427 Startle epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015648 LEXMATCH -MONDO:0015648 startle epilepsy skos:closeMatch Orphanet:166427 Startle epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166427 LEXMATCH -MONDO:0015649 micturation-induced seizures skos:closeMatch Orphanet:166430 Micturation-induced seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166430 LEXMATCH -MONDO:0015649 micturation-induced seizures skos:closeMatch Orphanet:166430 Micturation-induced seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20082 LEXMATCH -MONDO:0015649 micturation-induced seizures skos:closeMatch Orphanet:166430 Micturation-induced seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015649 LEXMATCH -MONDO:0015649 micturation-induced seizures skos:closeMatch Orphanet:166430 Micturation-induced seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015649 LEXMATCH -MONDO:0015649 micturation-induced seizures skos:closeMatch Orphanet:166430 Micturation-induced seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166430 LEXMATCH -MONDO:0015650 epilepsy syndrome skos:closeMatch Orphanet:166463 Epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20083 LEXMATCH -MONDO:0015650 epilepsy syndrome skos:closeMatch Orphanet:166463 Epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015650 LEXMATCH -MONDO:0015650 epilepsy syndrome skos:closeMatch Orphanet:166463 Epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015650 LEXMATCH -MONDO:0015653 monogenic epilepsy skos:closeMatch Orphanet:166472 Monogenic disease with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20086 LEXMATCH -MONDO:0015653 monogenic epilepsy skos:closeMatch Orphanet:166472 Monogenic disease with epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015653 LEXMATCH -MONDO:0015653 monogenic epilepsy skos:closeMatch Orphanet:166472 Monogenic disease with epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015653 LEXMATCH -MONDO:0015660 sporadic fetal brain disruption sequence skos:closeMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1665 LEXMATCH -MONDO:0015660 sporadic fetal brain disruption sequence skos:closeMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18734 LEXMATCH -MONDO:0015660 sporadic fetal brain disruption sequence skos:closeMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015660 LEXMATCH -MONDO:0015660 sporadic fetal brain disruption sequence skos:closeMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015660 LEXMATCH -MONDO:0015660 sporadic fetal brain disruption sequence skos:closeMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1665 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012592 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1666 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1827 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015661 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015661 LEXMATCH -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1666 LEXMATCH -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342436 LEXMATCH -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1672 LEXMATCH -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6276 LEXMATCH -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015663 LEXMATCH -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015663 LEXMATCH -MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1672 LEXMATCH -MONDO:0015664 idiopathic pulmonary artery dilatation skos:closeMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1676 LEXMATCH -MONDO:0015664 idiopathic pulmonary artery dilatation skos:closeMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6757 LEXMATCH -MONDO:0015664 idiopathic pulmonary artery dilatation skos:closeMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015664 LEXMATCH -MONDO:0015664 idiopathic pulmonary artery dilatation skos:closeMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015664 LEXMATCH -MONDO:0015664 idiopathic pulmonary artery dilatation skos:closeMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1676 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055046 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:167635 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7615 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015665 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015665 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:167635 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen myxedematosus LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 LEXMATCH -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis LEXMATCH -MONDO:0015666 familial idiopathic dilatation of the right atrium skos:closeMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1677 LEXMATCH -MONDO:0015666 familial idiopathic dilatation of the right atrium skos:closeMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18735 LEXMATCH -MONDO:0015666 familial idiopathic dilatation of the right atrium skos:closeMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015666 LEXMATCH -MONDO:0015666 familial idiopathic dilatation of the right atrium skos:closeMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015666 LEXMATCH -MONDO:0015666 familial idiopathic dilatation of the right atrium skos:closeMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1677 LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:167714 LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12760 LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015667 LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015667 LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:167714 LEXMATCH -MONDO:0015672 diprosopus skos:closeMatch Orphanet:1681 Diprosopus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1681 LEXMATCH -MONDO:0015672 diprosopus skos:closeMatch Orphanet:1681 Diprosopus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1876 LEXMATCH -MONDO:0015672 diprosopus skos:closeMatch Orphanet:1681 Diprosopus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015672 LEXMATCH -MONDO:0015672 diprosopus skos:closeMatch Orphanet:1681 Diprosopus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015672 LEXMATCH -MONDO:0015672 diprosopus skos:closeMatch Orphanet:1681 Diprosopus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1681 LEXMATCH -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168491 LEXMATCH -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17032 LEXMATCH -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015674 LEXMATCH -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015674 LEXMATCH -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168491 LEXMATCH -MONDO:0015675 distomatosis skos:closeMatch Orphanet:1685 Distomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1685 LEXMATCH -MONDO:0015675 distomatosis skos:closeMatch Orphanet:1685 Distomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1891 LEXMATCH -MONDO:0015675 distomatosis skos:closeMatch Orphanet:1685 Distomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015675 LEXMATCH -MONDO:0015675 distomatosis skos:closeMatch Orphanet:1685 Distomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015675 LEXMATCH -MONDO:0015675 distomatosis skos:closeMatch Orphanet:1685 Distomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1685 LEXMATCH -MONDO:0015677 cardiac diverticulum skos:closeMatch Orphanet:1686 Cardiac diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1686 LEXMATCH -MONDO:0015677 cardiac diverticulum skos:closeMatch Orphanet:1686 Cardiac diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1094 LEXMATCH -MONDO:0015677 cardiac diverticulum skos:closeMatch Orphanet:1686 Cardiac diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015677 LEXMATCH -MONDO:0015677 cardiac diverticulum skos:closeMatch Orphanet:1686 Cardiac diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015677 LEXMATCH -MONDO:0015677 cardiac diverticulum skos:closeMatch Orphanet:1686 Cardiac diverticulum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1686 LEXMATCH -MONDO:0015678 dysplasia of head of femur, Meyer type skos:closeMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168621 LEXMATCH -MONDO:0015678 dysplasia of head of femur, Meyer type skos:closeMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20098 LEXMATCH -MONDO:0015678 dysplasia of head of femur, Meyer type skos:closeMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015678 LEXMATCH -MONDO:0015678 dysplasia of head of femur, Meyer type skos:closeMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015678 LEXMATCH -MONDO:0015678 dysplasia of head of femur, Meyer type skos:closeMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168621 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008522 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236791 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168782 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6040 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015681 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015681 LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168782 LEXMATCH -MONDO:0015686 primary peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168829 LEXMATCH -MONDO:0015686 primary peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20103 LEXMATCH -MONDO:0015686 primary peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015686 LEXMATCH -MONDO:0015686 primary peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015686 LEXMATCH -MONDO:0015686 primary peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168829 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065854 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346421 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168940 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20104 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015687 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015687 LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168940 LEXMATCH -MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:closeMatch Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20105 LEXMATCH -MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:closeMatch Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015688 LEXMATCH -MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:closeMatch Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015688 LEXMATCH -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168947 LEXMATCH -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20106 LEXMATCH -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfra rearrangement LEXMATCH -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015689 LEXMATCH -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015689 LEXMATCH -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168947 LEXMATCH -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168950 LEXMATCH -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20107 LEXMATCH -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfrb rearrangement LEXMATCH -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015690 LEXMATCH -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015690 LEXMATCH -MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168950 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1540912 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168956 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2804 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015691 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015691 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168956 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038271 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168960 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20108 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015692 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015692 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168960 LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 LEXMATCH -MONDO:0015694 malignant melanoma of the mucosa skos:closeMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168999 LEXMATCH -MONDO:0015694 malignant melanoma of the mucosa skos:closeMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20110 LEXMATCH -MONDO:0015694 malignant melanoma of the mucosa skos:closeMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015694 LEXMATCH -MONDO:0015694 malignant melanoma of the mucosa skos:closeMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015694 LEXMATCH -MONDO:0015694 malignant melanoma of the mucosa skos:closeMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168999 LEXMATCH -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169090 LEXMATCH -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17048 LEXMATCH -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015695 LEXMATCH -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015695 LEXMATCH -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169090 LEXMATCH -MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221027 LEXMATCH -MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169105 LEXMATCH -MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8622 LEXMATCH -MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015696 LEXMATCH -MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015696 LEXMATCH -MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169105 LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398692 LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169110 LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20111 LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015697 LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015697 LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169110 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044388 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272238 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169139 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20112 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015698 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015698 LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169139 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169147 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15025 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015699 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015699 LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169147 LEXMATCH -MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169150 LEXMATCH -MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17050 LEXMATCH -MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015700 LEXMATCH -MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015700 LEXMATCH -MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169150 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169154 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17051 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015701 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015701 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169154 LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169157 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17052 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015702 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015702 LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169157 LEXMATCH -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169160 LEXMATCH -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17053 LEXMATCH -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015703 LEXMATCH -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015703 LEXMATCH -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169160 LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072229 LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169163 LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20113 LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015704 LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015704 LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169163 LEXMATCH -MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169186 LEXMATCH -MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12718 LEXMATCH -MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015705 LEXMATCH -MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015705 LEXMATCH -MONDO:0015705 autosomal recessive centronuclear myopathy skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169186 LEXMATCH -MONDO:0015706 mosaic trisomy 1 skos:closeMatch Orphanet:1692 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1692 LEXMATCH -MONDO:0015706 mosaic trisomy 1 skos:closeMatch Orphanet:1692 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18736 LEXMATCH -MONDO:0015706 mosaic trisomy 1 skos:closeMatch Orphanet:1692 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015706 LEXMATCH -MONDO:0015706 mosaic trisomy 1 skos:closeMatch Orphanet:1692 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015706 LEXMATCH -MONDO:0015706 mosaic trisomy 1 skos:closeMatch Orphanet:1692 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1692 LEXMATCH -MONDO:0015708 immuno-osseous dysplasia skos:closeMatch Orphanet:169349 Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169349 LEXMATCH -MONDO:0015708 immuno-osseous dysplasia skos:closeMatch Orphanet:169349 Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20115 LEXMATCH -MONDO:0015708 immuno-osseous dysplasia skos:closeMatch Orphanet:169349 Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015708 LEXMATCH -MONDO:0015708 immuno-osseous dysplasia skos:closeMatch Orphanet:169349 Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015708 LEXMATCH -MONDO:0015708 immuno-osseous dysplasia skos:closeMatch Orphanet:169349 Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169349 LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:closeMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1695 LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:closeMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18737 LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:closeMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015712 LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:closeMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015712 LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:closeMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1695 LEXMATCH -MONDO:0015715 severe hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169793 LEXMATCH -MONDO:0015715 severe hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17056 LEXMATCH -MONDO:0015715 severe hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015715 LEXMATCH -MONDO:0015715 severe hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015715 LEXMATCH -MONDO:0015715 severe hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169793 LEXMATCH -MONDO:0015716 moderately severe hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169796 LEXMATCH -MONDO:0015716 moderately severe hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17057 LEXMATCH -MONDO:0015716 moderately severe hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015716 LEXMATCH -MONDO:0015716 moderately severe hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015716 LEXMATCH -MONDO:0015716 moderately severe hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169796 LEXMATCH -MONDO:0015717 mild hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169799 LEXMATCH -MONDO:0015717 mild hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17058 LEXMATCH -MONDO:0015717 mild hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015717 LEXMATCH -MONDO:0015717 mild hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015717 LEXMATCH -MONDO:0015717 mild hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169799 LEXMATCH -MONDO:0015718 mosaic trisomy 12 skos:closeMatch Orphanet:1698 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1698 LEXMATCH -MONDO:0015718 mosaic trisomy 12 skos:closeMatch Orphanet:1698 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5304 LEXMATCH -MONDO:0015718 mosaic trisomy 12 skos:closeMatch Orphanet:1698 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015718 LEXMATCH -MONDO:0015718 mosaic trisomy 12 skos:closeMatch Orphanet:1698 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015718 LEXMATCH -MONDO:0015718 mosaic trisomy 12 skos:closeMatch Orphanet:1698 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1698 LEXMATCH -MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272322 LEXMATCH -MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169802 LEXMATCH -MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17059 LEXMATCH -MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015719 LEXMATCH -MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015719 LEXMATCH -MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169802 LEXMATCH -MONDO:0015720 moderately severe hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169805 LEXMATCH -MONDO:0015720 moderately severe hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17060 LEXMATCH -MONDO:0015720 moderately severe hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015720 LEXMATCH -MONDO:0015720 moderately severe hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015720 LEXMATCH -MONDO:0015720 moderately severe hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169805 LEXMATCH -MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272324 LEXMATCH -MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:169808 LEXMATCH -MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17061 LEXMATCH -MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015721 LEXMATCH -MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015721 LEXMATCH -MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:169808 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20121 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015722 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015722 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98434 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015722 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015722 LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98434 LEXMATCH -MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795845 LEXMATCH -MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1699 LEXMATCH -MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5305 LEXMATCH -MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015723 LEXMATCH -MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015723 LEXMATCH -MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1699 LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:closeMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1702 LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:closeMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18738 LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:closeMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015724 LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:closeMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015724 LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:closeMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1702 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930917 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1703 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1327 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome 14 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy 14 mosaicism LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015725 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015725 LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1703 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1705 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18739 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015726 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015726 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1705 LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538037 LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1706 LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5313 LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015727 LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015727 LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1706 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:closeMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538036 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:closeMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1707 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:closeMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18740 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:closeMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015728 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:closeMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015728 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:closeMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1707 LEXMATCH -MONDO:0015729 mosaic trisomy 16 skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1708 LEXMATCH -MONDO:0015729 mosaic trisomy 16 skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18741 LEXMATCH -MONDO:0015729 mosaic trisomy 16 skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015729 LEXMATCH -MONDO:0015729 mosaic trisomy 16 skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015729 LEXMATCH -MONDO:0015729 mosaic trisomy 16 skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1708 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:closeMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096168 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:closeMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1711 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:closeMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5317 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:closeMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015730 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:closeMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015730 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:closeMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1711 LEXMATCH -MONDO:0015734 rectal duplication skos:closeMatch Orphanet:171220 Rectal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171220 LEXMATCH -MONDO:0015734 rectal duplication skos:closeMatch Orphanet:171220 Rectal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20122 LEXMATCH -MONDO:0015734 rectal duplication skos:closeMatch Orphanet:171220 Rectal duplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015734 LEXMATCH -MONDO:0015734 rectal duplication skos:closeMatch Orphanet:171220 Rectal duplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015734 LEXMATCH -MONDO:0015734 rectal duplication skos:closeMatch Orphanet:171220 Rectal duplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171220 LEXMATCH -MONDO:0015735 severe congenital nemaline myopathy skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171430 LEXMATCH -MONDO:0015735 severe congenital nemaline myopathy skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12821 LEXMATCH -MONDO:0015735 severe congenital nemaline myopathy skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015735 LEXMATCH -MONDO:0015735 severe congenital nemaline myopathy skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015735 LEXMATCH -MONDO:0015735 severe congenital nemaline myopathy skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171430 LEXMATCH -MONDO:0015736 intermediate nemaline myopathy skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171433 LEXMATCH -MONDO:0015736 intermediate nemaline myopathy skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12823 LEXMATCH -MONDO:0015736 intermediate nemaline myopathy skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015736 LEXMATCH -MONDO:0015736 intermediate nemaline myopathy skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015736 LEXMATCH -MONDO:0015736 intermediate nemaline myopathy skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171433 LEXMATCH -MONDO:0015737 typical nemaline myopathy skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171436 LEXMATCH -MONDO:0015737 typical nemaline myopathy skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12822 LEXMATCH -MONDO:0015737 typical nemaline myopathy skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015737 LEXMATCH -MONDO:0015737 typical nemaline myopathy skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015737 LEXMATCH -MONDO:0015737 typical nemaline myopathy skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171436 LEXMATCH -MONDO:0015738 childhood-onset nemaline myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171439 LEXMATCH -MONDO:0015738 childhood-onset nemaline myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7171 LEXMATCH -MONDO:0015738 childhood-onset nemaline myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015738 LEXMATCH -MONDO:0015738 childhood-onset nemaline myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015738 LEXMATCH -MONDO:0015738 childhood-onset nemaline myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171439 LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546123 LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171442 LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12824 LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015739 LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015739 LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:closeMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171442 LEXMATCH -MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538307 LEXMATCH -MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1715 LEXMATCH -MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5323 LEXMATCH -MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015740 LEXMATCH -MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015740 LEXMATCH -MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1715 LEXMATCH -MONDO:0015741 distal trisomy 18q skos:closeMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1716 LEXMATCH -MONDO:0015741 distal trisomy 18q skos:closeMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18742 LEXMATCH -MONDO:0015741 distal trisomy 18q skos:closeMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015741 LEXMATCH -MONDO:0015741 distal trisomy 18q skos:closeMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015741 LEXMATCH -MONDO:0015741 distal trisomy 18q skos:closeMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1716 LEXMATCH -MONDO:0015743 idiopathic bilateral vestibulopathy skos:closeMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171684 LEXMATCH -MONDO:0015743 idiopathic bilateral vestibulopathy skos:closeMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20124 LEXMATCH -MONDO:0015743 idiopathic bilateral vestibulopathy skos:closeMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015743 LEXMATCH -MONDO:0015743 idiopathic bilateral vestibulopathy skos:closeMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015743 LEXMATCH -MONDO:0015743 idiopathic bilateral vestibulopathy skos:closeMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171684 LEXMATCH -MONDO:0015744 distal trisomy 19q skos:closeMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1717 LEXMATCH -MONDO:0015744 distal trisomy 19q skos:closeMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18743 LEXMATCH -MONDO:0015744 distal trisomy 19q skos:closeMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015744 LEXMATCH -MONDO:0015744 distal trisomy 19q skos:closeMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015744 LEXMATCH -MONDO:0015744 distal trisomy 19q skos:closeMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1717 LEXMATCH -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:closeMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171703 LEXMATCH -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:closeMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20125 LEXMATCH -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:closeMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015745 LEXMATCH -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:closeMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015745 LEXMATCH -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:closeMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171703 LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171709 LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12502 LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015746 LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015746 LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171709 LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721005 LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171723 LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8501 LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015748 LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015748 LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171723 LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:closeMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171829 LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:closeMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20126 LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:closeMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015749 LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:closeMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015749 LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:closeMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171829 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267187 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171839 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20127 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015751 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015751 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171839 LEXMATCH -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3710589 LEXMATCH -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171881 LEXMATCH -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11915 LEXMATCH -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015753 LEXMATCH -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015753 LEXMATCH -MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171881 LEXMATCH -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:closeMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171889 LEXMATCH -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:closeMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20129 LEXMATCH -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:closeMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015755 LEXMATCH -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:closeMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015755 LEXMATCH -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:closeMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171889 LEXMATCH -MONDO:0015756 myeloid hemopathy skos:closeMatch Orphanet:171895 Myeloid hemopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20130 LEXMATCH -MONDO:0015756 myeloid hemopathy skos:closeMatch Orphanet:171895 Myeloid hemopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015756 LEXMATCH -MONDO:0015756 myeloid hemopathy skos:closeMatch Orphanet:171895 Myeloid hemopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015756 LEXMATCH -MONDO:0015757 lymphoid hemopathy skos:closeMatch Orphanet:171898 Lymphoid hemopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20131 LEXMATCH -MONDO:0015757 lymphoid hemopathy skos:closeMatch Orphanet:171898 Lymphoid hemopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015757 LEXMATCH -MONDO:0015757 lymphoid hemopathy skos:closeMatch Orphanet:171898 Lymphoid hemopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015757 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011677 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171901 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6226 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015758 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015758 LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171901 LEXMATCH -MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171915 B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20132 LEXMATCH -MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171915 B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015759 LEXMATCH -MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171915 B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015759 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042971 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079772 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171918 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20133 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015760 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015760 LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171918 LEXMATCH -MONDO:0015761 trisomy 10p skos:closeMatch Orphanet:171929 Trisomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171929 LEXMATCH -MONDO:0015761 trisomy 10p skos:closeMatch Orphanet:171929 Trisomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5299 LEXMATCH -MONDO:0015761 trisomy 10p skos:closeMatch Orphanet:171929 Trisomy 10p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015761 LEXMATCH -MONDO:0015761 trisomy 10p skos:closeMatch Orphanet:171929 Trisomy 10p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015761 LEXMATCH -MONDO:0015761 trisomy 10p skos:closeMatch Orphanet:171929 Trisomy 10p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171929 LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268312 LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:172 LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15255 LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015762 LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015762 LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:172 LEXMATCH -MONDO:0015763 mosaic trisomy 2 skos:closeMatch Orphanet:1723 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1723 LEXMATCH -MONDO:0015763 mosaic trisomy 2 skos:closeMatch Orphanet:1723 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5331 LEXMATCH -MONDO:0015763 mosaic trisomy 2 skos:closeMatch Orphanet:1723 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015763 LEXMATCH -MONDO:0015763 mosaic trisomy 2 skos:closeMatch Orphanet:1723 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015763 LEXMATCH -MONDO:0015763 mosaic trisomy 2 skos:closeMatch Orphanet:1723 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1723 LEXMATCH -MONDO:0015764 mosaic trisomy 20 skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1724 LEXMATCH -MONDO:0015764 mosaic trisomy 20 skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18744 LEXMATCH -MONDO:0015764 mosaic trisomy 20 skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015764 LEXMATCH -MONDO:0015764 mosaic trisomy 20 skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015764 LEXMATCH -MONDO:0015764 mosaic trisomy 20 skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1724 LEXMATCH -MONDO:0015765 congenital myopathy with cores skos:closeMatch Orphanet:172976 Congenital myopathy with cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20134 LEXMATCH -MONDO:0015765 congenital myopathy with cores skos:closeMatch Orphanet:172976 Congenital myopathy with cores semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015765 LEXMATCH -MONDO:0015765 congenital myopathy with cores skos:closeMatch Orphanet:172976 Congenital myopathy with cores semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015765 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008631 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008354 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:173 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6043 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015766 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015766 LEXMATCH -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:173 LEXMATCH -MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 LEXMATCH -MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1738 LEXMATCH -MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6091 LEXMATCH -MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015767 LEXMATCH -MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015767 LEXMATCH -MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1738 LEXMATCH -MONDO:0015768 trisomy 5p skos:closeMatch Orphanet:1742 Trisomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1742 LEXMATCH -MONDO:0015768 trisomy 5p skos:closeMatch Orphanet:1742 Trisomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6093 LEXMATCH -MONDO:0015768 trisomy 5p skos:closeMatch Orphanet:1742 Trisomy 5p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015768 LEXMATCH -MONDO:0015768 trisomy 5p skos:closeMatch Orphanet:1742 Trisomy 5p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015768 LEXMATCH -MONDO:0015768 trisomy 5p skos:closeMatch Orphanet:1742 Trisomy 5p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1742 LEXMATCH -MONDO:0015769 distal trisomy 6p skos:closeMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1745 LEXMATCH -MONDO:0015769 distal trisomy 6p skos:closeMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18745 LEXMATCH -MONDO:0015769 distal trisomy 6p skos:closeMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015769 LEXMATCH -MONDO:0015769 distal trisomy 6p skos:closeMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015769 LEXMATCH -MONDO:0015769 distal trisomy 6p skos:closeMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1745 LEXMATCH -MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:174590 Congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20135 LEXMATCH -MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:174590 Congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015770 LEXMATCH -MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:174590 Congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015770 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1747 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5354 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome 7 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy 7 mosaicism LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015771 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015771 LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1747 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795829 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1752 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5362 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015772 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015772 LEXMATCH -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1752 LEXMATCH -MONDO:0015773 fibular dimelia-diplopodia syndrome skos:closeMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1757 LEXMATCH -MONDO:0015773 fibular dimelia-diplopodia syndrome skos:closeMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18746 LEXMATCH -MONDO:0015773 fibular dimelia-diplopodia syndrome skos:closeMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015773 LEXMATCH -MONDO:0015773 fibular dimelia-diplopodia syndrome skos:closeMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015773 LEXMATCH -MONDO:0015773 fibular dimelia-diplopodia syndrome skos:closeMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1757 LEXMATCH -MONDO:0015774 thoraco-abdominal enteric duplication skos:closeMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1759 LEXMATCH -MONDO:0015774 thoraco-abdominal enteric duplication skos:closeMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5181 LEXMATCH -MONDO:0015774 thoraco-abdominal enteric duplication skos:closeMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015774 LEXMATCH -MONDO:0015774 thoraco-abdominal enteric duplication skos:closeMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015774 LEXMATCH -MONDO:0015774 thoraco-abdominal enteric duplication skos:closeMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1759 LEXMATCH -MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:176 Non-rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18679 LEXMATCH -MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:176 Non-rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015775 LEXMATCH -MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:176 Non-rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015775 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282529 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13160 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015776 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015776 LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177 LEXMATCH -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1772 LEXMATCH -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18747 LEXMATCH -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015779 LEXMATCH -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015779 LEXMATCH -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1772 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062759 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265965 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1775 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10905 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015780 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015780 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1775 LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hoyeraal-hreidarsson syndrome LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931522 LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1778 LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4778 LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015781 LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015781 LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1778 LEXMATCH -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:closeMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1779 LEXMATCH -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:closeMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2009 LEXMATCH -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:closeMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015782 LEXMATCH -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:closeMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015782 LEXMATCH -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:closeMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1779 LEXMATCH -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:closeMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177901 LEXMATCH -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:closeMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20138 LEXMATCH -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:closeMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015783 LEXMATCH -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:closeMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015783 LEXMATCH -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:closeMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177901 LEXMATCH -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:closeMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177904 LEXMATCH -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:closeMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20139 LEXMATCH -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:closeMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015784 LEXMATCH -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:closeMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015784 LEXMATCH -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:closeMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177904 LEXMATCH -MONDO:0015785 Prader-Willi syndrome due to translocation skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177907 LEXMATCH -MONDO:0015785 Prader-Willi syndrome due to translocation skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17074 LEXMATCH -MONDO:0015785 Prader-Willi syndrome due to translocation skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015785 LEXMATCH -MONDO:0015785 Prader-Willi syndrome due to translocation skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015785 LEXMATCH -MONDO:0015785 Prader-Willi syndrome due to translocation skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177907 LEXMATCH -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177910 LEXMATCH -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17075 LEXMATCH -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015786 LEXMATCH -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015786 LEXMATCH -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177910 LEXMATCH -MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177926 LEXMATCH -MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17076 LEXMATCH -MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015787 LEXMATCH -MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015787 LEXMATCH -MONDO:0015787 symptomatic form of hemophilia A in female carriers skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177926 LEXMATCH -MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:177929 LEXMATCH -MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17077 LEXMATCH -MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015788 LEXMATCH -MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015788 LEXMATCH -MONDO:0015788 symptomatic form of hemophilia B in female carriers skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:177929 LEXMATCH -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068587 LEXMATCH -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178029 LEXMATCH -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6015 LEXMATCH -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015790 LEXMATCH -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015790 LEXMATCH -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178029 LEXMATCH -MONDO:0015791 peripheral precocious puberty skos:closeMatch Orphanet:178040 Rare peripheral precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178040 LEXMATCH -MONDO:0015791 peripheral precocious puberty skos:closeMatch Orphanet:178040 Rare peripheral precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20141 LEXMATCH -MONDO:0015791 peripheral precocious puberty skos:closeMatch Orphanet:178040 Rare peripheral precocious puberty semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015791 LEXMATCH -MONDO:0015791 peripheral precocious puberty skos:closeMatch Orphanet:178040 Rare peripheral precocious puberty semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015791 LEXMATCH -MONDO:0015791 peripheral precocious puberty skos:closeMatch Orphanet:178040 Rare peripheral precocious puberty semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178040 LEXMATCH -MONDO:0015792 transient congenital hypothyroidism skos:closeMatch Orphanet:178045 Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178045 LEXMATCH -MONDO:0015792 transient congenital hypothyroidism skos:closeMatch Orphanet:178045 Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20142 LEXMATCH -MONDO:0015792 transient congenital hypothyroidism skos:closeMatch Orphanet:178045 Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015792 LEXMATCH -MONDO:0015792 transient congenital hypothyroidism skos:closeMatch Orphanet:178045 Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015792 LEXMATCH -MONDO:0015792 transient congenital hypothyroidism skos:closeMatch Orphanet:178045 Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178045 LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178145 LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17078 LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015793 LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015793 LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178145 LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843691 LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178148 LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20143 LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015794 LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015794 LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178148 LEXMATCH -MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:closeMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178315 LEXMATCH -MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:closeMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20145 LEXMATCH -MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:closeMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015795 LEXMATCH -MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:closeMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015795 LEXMATCH -MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:closeMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178315 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069351 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055371 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178320 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20146 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015796 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015796 LEXMATCH -MONDO:0015796 acute lung injury skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178320 LEXMATCH -MONDO:0015797 UV-sensitive syndrome skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178338 LEXMATCH -MONDO:0015797 UV-sensitive syndrome skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10947 LEXMATCH -MONDO:0015797 UV-sensitive syndrome skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015797 LEXMATCH -MONDO:0015797 UV-sensitive syndrome skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015797 LEXMATCH -MONDO:0015797 UV-sensitive syndrome skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178338 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067917 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334121 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178342 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7146 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015798 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015798 LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:closeMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178342 LEXMATCH -MONDO:0015799 Smith-McCort dysplasia skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178355 LEXMATCH -MONDO:0015799 Smith-McCort dysplasia skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10620 LEXMATCH -MONDO:0015799 Smith-McCort dysplasia skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015799 LEXMATCH -MONDO:0015799 Smith-McCort dysplasia skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015799 LEXMATCH -MONDO:0015799 Smith-McCort dysplasia skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178355 LEXMATCH -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:closeMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178377 LEXMATCH -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:closeMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20147 LEXMATCH -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:closeMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015800 LEXMATCH -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:closeMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015800 LEXMATCH -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:closeMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178377 LEXMATCH -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:closeMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178396 LEXMATCH -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:closeMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20148 LEXMATCH -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:closeMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015801 LEXMATCH -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:closeMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015801 LEXMATCH -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:closeMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178396 LEXMATCH -MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178469 LEXMATCH -MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12107 LEXMATCH -MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015802 LEXMATCH -MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015802 LEXMATCH -MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178469 LEXMATCH -MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306794 LEXMATCH -MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178475 LEXMATCH -MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20149 LEXMATCH -MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015803 LEXMATCH -MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015803 LEXMATCH -MONDO:0015803 wound botulism skos:closeMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178475 LEXMATCH -MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238027 LEXMATCH -MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178478 LEXMATCH -MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20150 LEXMATCH -MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015804 LEXMATCH -MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015804 LEXMATCH -MONDO:0015804 infant botulism skos:closeMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178478 LEXMATCH -MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1443901 LEXMATCH -MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178481 LEXMATCH -MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20151 LEXMATCH -MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015805 LEXMATCH -MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015805 LEXMATCH -MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178481 LEXMATCH -MONDO:0015806 adult intestinal botulism skos:closeMatch Orphanet:178487 Adult intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178487 LEXMATCH -MONDO:0015806 adult intestinal botulism skos:closeMatch Orphanet:178487 Adult intestinal botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20152 LEXMATCH -MONDO:0015806 adult intestinal botulism skos:closeMatch Orphanet:178487 Adult intestinal botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015806 LEXMATCH -MONDO:0015806 adult intestinal botulism skos:closeMatch Orphanet:178487 Adult intestinal botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015806 LEXMATCH -MONDO:0015806 adult intestinal botulism skos:closeMatch Orphanet:178487 Adult intestinal botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178487 LEXMATCH -MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730271 LEXMATCH -MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178493 LEXMATCH -MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20153 LEXMATCH -MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015807 LEXMATCH -MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015807 LEXMATCH -MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178493 LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1627767 LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178512 LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20154 LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015808 LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015808 LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178512 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1276140 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178517 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20155 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015809 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015809 LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178517 LEXMATCH -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:closeMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178522 LEXMATCH -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:closeMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20156 LEXMATCH -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:closeMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015810 LEXMATCH -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:closeMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015810 LEXMATCH -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:closeMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178522 LEXMATCH -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:closeMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178528 LEXMATCH -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:closeMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20157 LEXMATCH -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:closeMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015811 LEXMATCH -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:closeMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015811 LEXMATCH -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:closeMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178528 LEXMATCH -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:closeMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178533 LEXMATCH -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:closeMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20158 LEXMATCH -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:closeMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015812 LEXMATCH -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:closeMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015812 LEXMATCH -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:closeMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178533 LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275321 LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178536 LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20159 LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015813 LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015813 LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178536 LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333171 LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178540 LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13701 LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015814 LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015814 LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178540 LEXMATCH -MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:178548 Indolent primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20161 LEXMATCH -MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:178548 Indolent primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015816 LEXMATCH -MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:178548 Indolent primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015816 LEXMATCH -MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178557 Indolent primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20164 LEXMATCH -MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178557 Indolent primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015819 LEXMATCH -MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178557 Indolent primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015819 LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274310 LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178563 LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20165 LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015820 LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015820 LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178563 LEXMATCH -MONDO:0015821 mycosis fungoides and variants skos:closeMatch Orphanet:178566 Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178566 LEXMATCH -MONDO:0015821 mycosis fungoides and variants skos:closeMatch Orphanet:178566 Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20166 LEXMATCH -MONDO:0015821 mycosis fungoides and variants skos:closeMatch Orphanet:178566 Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015821 LEXMATCH -MONDO:0015821 mycosis fungoides and variants skos:closeMatch Orphanet:178566 Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015821 LEXMATCH -MONDO:0015821 mycosis fungoides and variants skos:closeMatch Orphanet:178566 Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178566 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838348 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1794 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4046 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015824 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015824 LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1794 LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1797 LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12806 LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015826 LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015826 LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1797 LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045224 LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:18 LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4667 LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015827 LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015827 LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:18 LEXMATCH -MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20172 LEXMATCH -MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partial bilateral aplasia of the müllerian ducts LEXMATCH -MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015830 LEXMATCH -MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015830 LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180071 LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20173 LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unilateral aplasia of the müllerian ducts LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015831 LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015831 LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180071 LEXMATCH -MONDO:0015832 true unicornuate uterus skos:closeMatch Orphanet:180074 True unicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180074 LEXMATCH -MONDO:0015832 true unicornuate uterus skos:closeMatch Orphanet:180074 True unicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20174 LEXMATCH -MONDO:0015832 true unicornuate uterus skos:closeMatch Orphanet:180074 True unicornuate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015832 LEXMATCH -MONDO:0015832 true unicornuate uterus skos:closeMatch Orphanet:180074 True unicornuate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015832 LEXMATCH -MONDO:0015832 true unicornuate uterus skos:closeMatch Orphanet:180074 True unicornuate uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180074 LEXMATCH -MONDO:0015833 pseudounicornuate uterus skos:closeMatch Orphanet:180079 Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180079 LEXMATCH -MONDO:0015833 pseudounicornuate uterus skos:closeMatch Orphanet:180079 Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20175 LEXMATCH -MONDO:0015833 pseudounicornuate uterus skos:closeMatch Orphanet:180079 Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015833 LEXMATCH -MONDO:0015833 pseudounicornuate uterus skos:closeMatch Orphanet:180079 Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015833 LEXMATCH -MONDO:0015833 pseudounicornuate uterus skos:closeMatch Orphanet:180079 Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180079 LEXMATCH -MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012770 LEXMATCH -MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180086 LEXMATCH -MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20176 LEXMATCH -MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015834 LEXMATCH -MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015834 LEXMATCH -MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180086 LEXMATCH -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:closeMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180106 LEXMATCH -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:closeMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20177 LEXMATCH -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:closeMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015835 LEXMATCH -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:closeMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015835 LEXMATCH -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:closeMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180106 LEXMATCH -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:closeMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180111 LEXMATCH -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:closeMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20178 LEXMATCH -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:closeMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015836 LEXMATCH -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:closeMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015836 LEXMATCH -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:closeMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180111 LEXMATCH -MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062606 LEXMATCH -MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180122 LEXMATCH -MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20180 LEXMATCH -MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015839 LEXMATCH -MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015839 LEXMATCH -MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180122 LEXMATCH -MONDO:0015840 complete septate uterus skos:closeMatch Orphanet:180126 Complete septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180126 LEXMATCH -MONDO:0015840 complete septate uterus skos:closeMatch Orphanet:180126 Complete septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20181 LEXMATCH -MONDO:0015840 complete septate uterus skos:closeMatch Orphanet:180126 Complete septate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015840 LEXMATCH -MONDO:0015840 complete septate uterus skos:closeMatch Orphanet:180126 Complete septate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015840 LEXMATCH -MONDO:0015840 complete septate uterus skos:closeMatch Orphanet:180126 Complete septate uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180126 LEXMATCH -MONDO:0015841 partial septate uterus skos:closeMatch Orphanet:180129 Partial septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180129 LEXMATCH -MONDO:0015841 partial septate uterus skos:closeMatch Orphanet:180129 Partial septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20182 LEXMATCH -MONDO:0015841 partial septate uterus skos:closeMatch Orphanet:180129 Partial septate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015841 LEXMATCH -MONDO:0015841 partial septate uterus skos:closeMatch Orphanet:180129 Partial septate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015841 LEXMATCH -MONDO:0015841 partial septate uterus skos:closeMatch Orphanet:180129 Partial septate uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180129 LEXMATCH -MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004550 LEXMATCH -MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180134 LEXMATCH -MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20183 LEXMATCH -MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015842 LEXMATCH -MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015842 LEXMATCH -MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180134 LEXMATCH -MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063146 LEXMATCH -MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180139 LEXMATCH -MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20184 LEXMATCH -MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015843 LEXMATCH -MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015843 LEXMATCH -MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180139 LEXMATCH -MONDO:0015844 agenesis and aplasia of uterine body skos:closeMatch Orphanet:180142 Absence of uterine body semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180142 LEXMATCH -MONDO:0015844 agenesis and aplasia of uterine body skos:closeMatch Orphanet:180142 Absence of uterine body semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20185 LEXMATCH -MONDO:0015844 agenesis and aplasia of uterine body skos:closeMatch Orphanet:180142 Absence of uterine body semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015844 LEXMATCH -MONDO:0015844 agenesis and aplasia of uterine body skos:closeMatch Orphanet:180142 Absence of uterine body semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015844 LEXMATCH -MONDO:0015844 agenesis and aplasia of uterine body skos:closeMatch Orphanet:180142 Absence of uterine body semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180142 LEXMATCH -MONDO:0015845 uterine cervical aplasia and agenesis skos:closeMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180145 LEXMATCH -MONDO:0015845 uterine cervical aplasia and agenesis skos:closeMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20186 LEXMATCH -MONDO:0015845 uterine cervical aplasia and agenesis skos:closeMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015845 LEXMATCH -MONDO:0015845 uterine cervical aplasia and agenesis skos:closeMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015845 LEXMATCH -MONDO:0015845 uterine cervical aplasia and agenesis skos:closeMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180145 LEXMATCH -MONDO:0015849 longitudinal vaginal septum skos:closeMatch Orphanet:180157 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180157 LEXMATCH -MONDO:0015849 longitudinal vaginal septum skos:closeMatch Orphanet:180157 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20190 LEXMATCH -MONDO:0015849 longitudinal vaginal septum skos:closeMatch Orphanet:180157 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015849 LEXMATCH -MONDO:0015849 longitudinal vaginal septum skos:closeMatch Orphanet:180157 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015849 LEXMATCH -MONDO:0015849 longitudinal vaginal septum skos:closeMatch Orphanet:180157 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180157 LEXMATCH -MONDO:0015850 transverse vaginal septum skos:closeMatch Orphanet:180160 Transverse vaginal septum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180160 LEXMATCH -MONDO:0015850 transverse vaginal septum skos:closeMatch Orphanet:180160 Transverse vaginal septum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20191 LEXMATCH -MONDO:0015850 transverse vaginal septum skos:closeMatch Orphanet:180160 Transverse vaginal septum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015850 LEXMATCH -MONDO:0015850 transverse vaginal septum skos:closeMatch Orphanet:180160 Transverse vaginal septum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015850 LEXMATCH -MONDO:0015850 transverse vaginal septum skos:closeMatch Orphanet:180160 Transverse vaginal septum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180160 LEXMATCH -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049786 LEXMATCH -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180182 LEXMATCH -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20195 LEXMATCH -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015854 LEXMATCH -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015854 LEXMATCH -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180182 LEXMATCH -MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180188 LEXMATCH -MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9489 LEXMATCH -MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015855 LEXMATCH -MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015855 LEXMATCH -MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180188 LEXMATCH -MONDO:0015856 syndromic breast hypoplasia/aplasia skos:closeMatch Orphanet:180193 Syndromic breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20196 LEXMATCH -MONDO:0015856 syndromic breast hypoplasia/aplasia skos:closeMatch Orphanet:180193 Syndromic breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015856 LEXMATCH -MONDO:0015856 syndromic breast hypoplasia/aplasia skos:closeMatch Orphanet:180193 Syndromic breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015856 LEXMATCH -MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334518 LEXMATCH -MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180229 LEXMATCH -MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9621 LEXMATCH -MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015863 LEXMATCH -MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015863 LEXMATCH -MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180229 LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334524 LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180234 LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20202 LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015864 LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015864 LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180234 LEXMATCH -MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262659 LEXMATCH -MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180247 LEXMATCH -MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9348 LEXMATCH -MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015867 LEXMATCH -MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015867 LEXMATCH -MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180247 LEXMATCH -MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011813 LEXMATCH -MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180261 LEXMATCH -MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9514 LEXMATCH -MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015871 LEXMATCH -MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015871 LEXMATCH -MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180261 LEXMATCH -MONDO:0015872 giant adenofibroma of the breast skos:closeMatch Orphanet:180267 Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180267 LEXMATCH -MONDO:0015872 giant adenofibroma of the breast skos:closeMatch Orphanet:180267 Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20206 LEXMATCH -MONDO:0015872 giant adenofibroma of the breast skos:closeMatch Orphanet:180267 Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015872 LEXMATCH -MONDO:0015872 giant adenofibroma of the breast skos:closeMatch Orphanet:180267 Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015872 LEXMATCH -MONDO:0015872 giant adenofibroma of the breast skos:closeMatch Orphanet:180267 Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180267 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033367 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704323 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:180275 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7303 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015873 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015873 LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:180275 LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930953 LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1809 LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:280 LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015883 LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015883 LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1809 LEXMATCH -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1810 LEXMATCH -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2048 LEXMATCH -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015884 LEXMATCH -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015884 LEXMATCH -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1810 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:181393 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3924 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015892 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015892 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:181393 LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061630 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302280 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:181412 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20226 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015898 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015898 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:181412 LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020595 LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:181419 LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20228 LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015900 LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015900 LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:181419 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:181428 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20230 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015903 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015903 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:181428 LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 LEXMATCH -MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20232 LEXMATCH -MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare syndromic dyslipidemia LEXMATCH -MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015905 LEXMATCH -MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015905 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008803 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008582 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1319 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015908 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015908 LEXMATCH -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182 LEXMATCH -MONDO:0015909 aplastic anemia skos:closeMatch Orphanet:182040 Rare aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20234 LEXMATCH -MONDO:0015909 aplastic anemia skos:closeMatch Orphanet:182040 Rare aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015909 LEXMATCH -MONDO:0015909 aplastic anemia skos:closeMatch Orphanet:182040 Rare aplastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015909 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155100 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182050 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:180 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:155100 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015912 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015912 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155100 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182050 LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:155100 LEXMATCH -MONDO:0015914 primary orthostatic hypotension skos:closeMatch Orphanet:182058 Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12959 LEXMATCH -MONDO:0015914 primary orthostatic hypotension skos:closeMatch Orphanet:182058 Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015914 LEXMATCH -MONDO:0015914 primary orthostatic hypotension skos:closeMatch Orphanet:182058 Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015914 LEXMATCH -MONDO:0015914 primary orthostatic hypotension skos:closeMatch Orphanet:448426 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015914 LEXMATCH -MONDO:0015923 acquired peripheral neuropathy skos:closeMatch Orphanet:182086 Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20243 LEXMATCH -MONDO:0015923 acquired peripheral neuropathy skos:closeMatch Orphanet:182086 Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015923 LEXMATCH -MONDO:0015923 acquired peripheral neuropathy skos:closeMatch Orphanet:182086 Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015923 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064911 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2973725 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182090 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7501 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015924 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015924 LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182090 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022611 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206062 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182095 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20244 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015925 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015925 LEXMATCH -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182095 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035653 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032273 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182098 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20245 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015926 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015926 LEXMATCH -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182098 LEXMATCH -MONDO:0015927 idiopathic eosinophilic pneumonia skos:closeMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182101 LEXMATCH -MONDO:0015927 idiopathic eosinophilic pneumonia skos:closeMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20246 LEXMATCH -MONDO:0015927 idiopathic eosinophilic pneumonia skos:closeMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015927 LEXMATCH -MONDO:0015927 idiopathic eosinophilic pneumonia skos:closeMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015927 LEXMATCH -MONDO:0015927 idiopathic eosinophilic pneumonia skos:closeMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182101 LEXMATCH -MONDO:0015929 thoracic malformation skos:closeMatch Orphanet:182108 Thoracic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20248 LEXMATCH -MONDO:0015929 thoracic malformation skos:closeMatch Orphanet:182108 Thoracic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015929 LEXMATCH -MONDO:0015929 thoracic malformation skos:closeMatch Orphanet:182108 Thoracic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015929 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018207 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182127 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2005 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015935 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015935 LEXMATCH -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182127 LEXMATCH -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1825 LEXMATCH -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2178 LEXMATCH -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015941 LEXMATCH -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015941 LEXMATCH -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1825 LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1826 LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:826 LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015942 LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015942 LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1826 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048594 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008728 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6111 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015943 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015943 LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931613 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1834 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:213 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015944 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015944 LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1834 LEXMATCH -MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021202 LEXMATCH -MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183435 LEXMATCH -MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20261 LEXMATCH -MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015947 LEXMATCH -MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015947 LEXMATCH -MONDO:0015947 inherited ichthyosis skos:closeMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183435 LEXMATCH -MONDO:0015951 hereditary photodermatosis skos:closeMatch Orphanet:183490 Genetic photodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20277 LEXMATCH -MONDO:0015951 hereditary photodermatosis skos:closeMatch Orphanet:183490 Genetic photodermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015951 LEXMATCH -MONDO:0015951 hereditary photodermatosis skos:closeMatch Orphanet:183490 Genetic photodermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015951 LEXMATCH -MONDO:0015961 hereditary head and neck malformation skos:closeMatch Orphanet:183583 Genetic head and neck malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20303 LEXMATCH -MONDO:0015961 hereditary head and neck malformation skos:closeMatch Orphanet:183583 Genetic head and neck malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015961 LEXMATCH -MONDO:0015961 hereditary head and neck malformation skos:closeMatch Orphanet:183583 Genetic head and neck malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015961 LEXMATCH -MONDO:0015962 inherited renal tubular disease skos:closeMatch Orphanet:183592 Genetic renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20306 LEXMATCH -MONDO:0015962 inherited renal tubular disease skos:closeMatch Orphanet:183592 Genetic renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic renal tubular disease LEXMATCH -MONDO:0015962 inherited renal tubular disease skos:closeMatch Orphanet:183592 Genetic renal tubular disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015962 LEXMATCH -MONDO:0015962 inherited renal tubular disease skos:closeMatch Orphanet:183592 Genetic renal tubular disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015962 LEXMATCH -MONDO:0015967 monogenic diabetes skos:closeMatch Orphanet:183625 Rare genetic diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20312 LEXMATCH -MONDO:0015967 monogenic diabetes skos:closeMatch Orphanet:183625 Rare genetic diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015967 LEXMATCH -MONDO:0015967 monogenic diabetes skos:closeMatch Orphanet:183625 Rare genetic diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015967 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069566 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085110 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183660 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7628 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015974 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015974 LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183660 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001471 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183669 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20320 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015977 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015977 LEXMATCH -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183669 LEXMATCH -MONDO:0015978 functional neutrophil defect skos:closeMatch Orphanet:183681 Functional neutrophil defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183681 LEXMATCH -MONDO:0015978 functional neutrophil defect skos:closeMatch Orphanet:183681 Functional neutrophil defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20321 LEXMATCH -MONDO:0015978 functional neutrophil defect skos:closeMatch Orphanet:183681 Functional neutrophil defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015978 LEXMATCH -MONDO:0015978 functional neutrophil defect skos:closeMatch Orphanet:183681 Functional neutrophil defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015978 LEXMATCH -MONDO:0015978 functional neutrophil defect skos:closeMatch Orphanet:183681 Functional neutrophil defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183681 LEXMATCH -MONDO:0015979 hereditary predisposition to infections skos:closeMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183710 LEXMATCH -MONDO:0015979 hereditary predisposition to infections skos:closeMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20322 LEXMATCH -MONDO:0015979 hereditary predisposition to infections skos:closeMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015979 LEXMATCH -MONDO:0015979 hereditary predisposition to infections skos:closeMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015979 LEXMATCH -MONDO:0015979 hereditary predisposition to infections skos:closeMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183710 LEXMATCH -MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1848 LEXMATCH -MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16579 LEXMATCH -MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis, bilateral LEXMATCH -MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015986 LEXMATCH -MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015986 LEXMATCH -MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1848 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051951 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:185 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18680 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015987 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015987 LEXMATCH -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:185 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714581 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1851 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18748 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015988 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015988 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1851 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 LEXMATCH -MONDO:0015990 focal, segmental or multifocal dystonia skos:closeMatch Orphanet:1866 Focal, segmental or multifocal dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18749 LEXMATCH -MONDO:0015990 focal, segmental or multifocal dystonia skos:closeMatch Orphanet:1866 Focal, segmental or multifocal dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015990 LEXMATCH -MONDO:0015990 focal, segmental or multifocal dystonia skos:closeMatch Orphanet:1866 Focal, segmental or multifocal dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015990 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175683 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:187 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16522 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015991 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015991 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:187 LEXMATCH -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency LEXMATCH -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1872 LEXMATCH -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10790 LEXMATCH -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone rod dystrophy LEXMATCH -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015993 LEXMATCH -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015993 LEXMATCH -MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1872 LEXMATCH -MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1879 LEXMATCH -MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3690 LEXMATCH -MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015995 LEXMATCH -MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015995 LEXMATCH -MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1879 LEXMATCH -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:closeMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1884 LEXMATCH -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:closeMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3999 LEXMATCH -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:closeMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015997 LEXMATCH -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:closeMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015997 LEXMATCH -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:closeMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1884 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014145 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1885 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12251 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015998 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0015998 LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1885 LEXMATCH -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:189466 LEXMATCH -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17088 LEXMATCH -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016000 LEXMATCH -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016000 LEXMATCH -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:189466 LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2746066 LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:19 LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10761 LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016001 LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016001 LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:19 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1900 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22216 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds via LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016002 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016002 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:225400 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1900 LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds vi LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keds LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kyphoscoliotic eds LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kyphoscoliotic ehlers-danlos syndrome LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085399 LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1902 LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2092 LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016003 LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016003 LEXMATCH -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1902 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071183 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432367 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1908 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2294 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016004 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016004 LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1908 LEXMATCH -MONDO:0016005 indomethacin embryofetopathy skos:closeMatch Orphanet:1909 Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1909 LEXMATCH -MONDO:0016005 indomethacin embryofetopathy skos:closeMatch Orphanet:1909 Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2303 LEXMATCH -MONDO:0016005 indomethacin embryofetopathy skos:closeMatch Orphanet:1909 Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016005 LEXMATCH -MONDO:0016005 indomethacin embryofetopathy skos:closeMatch Orphanet:1909 Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016005 LEXMATCH -MONDO:0016005 indomethacin embryofetopathy skos:closeMatch Orphanet:1909 Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1909 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009835 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009207 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:191 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6122 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016006 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016006 LEXMATCH -MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:191 LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432371 LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1911 LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1413 LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016007 LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016007 LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1911 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265372 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1912 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6435 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016008 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016008 LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1912 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265373 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1913 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18750 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016009 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016009 LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1913 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051445 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265374 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1914 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8580 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k antagonist embryofetopathy LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016010 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016010 LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1914 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016845 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015923 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1915 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:599 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016011 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016011 LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1915 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012780 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853695 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1916 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1859 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016012 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016012 LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1916 LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1917 LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3575 LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minamata disease LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016013 LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016013 LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1917 LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432373 LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1918 LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2308 LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minoxidil antenatal exposure LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016014 LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016014 LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1918 LEXMATCH -MONDO:0016015 phenobarbital embryopathy skos:closeMatch Orphanet:1919 Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1919 LEXMATCH -MONDO:0016015 phenobarbital embryopathy skos:closeMatch Orphanet:1919 Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4315 LEXMATCH -MONDO:0016015 phenobarbital embryopathy skos:closeMatch Orphanet:1919 Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016015 LEXMATCH -MONDO:0016015 phenobarbital embryopathy skos:closeMatch Orphanet:1919 Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016015 LEXMATCH -MONDO:0016015 phenobarbital embryopathy skos:closeMatch Orphanet:1919 Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1919 LEXMATCH -MONDO:0016016 toluene embryopathy skos:closeMatch Orphanet:1920 Toluene embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1920 LEXMATCH -MONDO:0016016 toluene embryopathy skos:closeMatch Orphanet:1920 Toluene embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18751 LEXMATCH -MONDO:0016016 toluene embryopathy skos:closeMatch Orphanet:1920 Toluene embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016016 LEXMATCH -MONDO:0016016 toluene embryopathy skos:closeMatch Orphanet:1920 Toluene embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016016 LEXMATCH -MONDO:0016016 toluene embryopathy skos:closeMatch Orphanet:1920 Toluene embryopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1920 LEXMATCH -MONDO:0016017 methimazole embryofetopathy skos:closeMatch Orphanet:1923 Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1923 LEXMATCH -MONDO:0016017 methimazole embryofetopathy skos:closeMatch Orphanet:1923 Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3573 LEXMATCH -MONDO:0016017 methimazole embryofetopathy skos:closeMatch Orphanet:1923 Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016017 LEXMATCH -MONDO:0016017 methimazole embryofetopathy skos:closeMatch Orphanet:1923 Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016017 LEXMATCH -MONDO:0016017 methimazole embryofetopathy skos:closeMatch Orphanet:1923 Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1923 LEXMATCH -MONDO:0016018 diabetic embryopathy skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1926 LEXMATCH -MONDO:0016018 diabetic embryopathy skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16580 LEXMATCH -MONDO:0016018 diabetic embryopathy skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016018 LEXMATCH -MONDO:0016018 diabetic embryopathy skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016018 LEXMATCH -MONDO:0016018 diabetic embryopathy skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1926 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930868 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1929 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18752 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016019 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016019 LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1929 LEXMATCH -MONDO:0016020 frontal encephalocele skos:closeMatch Orphanet:1931 Frontal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1931 LEXMATCH -MONDO:0016020 frontal encephalocele skos:closeMatch Orphanet:1931 Frontal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18753 LEXMATCH -MONDO:0016020 frontal encephalocele skos:closeMatch Orphanet:1931 Frontal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016020 LEXMATCH -MONDO:0016020 frontal encephalocele skos:closeMatch Orphanet:1931 Frontal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016020 LEXMATCH -MONDO:0016020 frontal encephalocele skos:closeMatch Orphanet:1931 Frontal encephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1931 LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270855 LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1935 LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16581 LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016022 LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016022 LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1935 LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1942 LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2169 LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016025 LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016025 LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1942 LEXMATCH -MONDO:0016026 infant epilepsy with migrant focal crisis skos:closeMatch Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1943 LEXMATCH -MONDO:0016026 infant epilepsy with migrant focal crisis skos:closeMatch Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2995 LEXMATCH -MONDO:0016026 infant epilepsy with migrant focal crisis skos:closeMatch Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016026 LEXMATCH -MONDO:0016026 infant epilepsy with migrant focal crisis skos:closeMatch Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016026 LEXMATCH -MONDO:0016026 infant epilepsy with migrant focal crisis skos:closeMatch Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1943 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1949 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1519 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016027 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016027 LEXMATCH -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1949 LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1957 LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2197 LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olfactory neuroblastoma LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016029 LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016029 LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1957 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053873 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272126 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1959 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6389 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016030 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016030 LEXMATCH -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1959 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931183 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1969 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2221 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016031 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016031 LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1969 LEXMATCH -MONDO:0016032 femoral agenesis/hypoplasia skos:closeMatch Orphanet:1987 Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1987 LEXMATCH -MONDO:0016032 femoral agenesis/hypoplasia skos:closeMatch Orphanet:1987 Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1503 LEXMATCH -MONDO:0016032 femoral agenesis/hypoplasia skos:closeMatch Orphanet:1987 Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016032 LEXMATCH -MONDO:0016032 femoral agenesis/hypoplasia skos:closeMatch Orphanet:1987 Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016032 LEXMATCH -MONDO:0016032 femoral agenesis/hypoplasia skos:closeMatch Orphanet:1987 Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1987 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056354 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270972 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10109 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016033 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016033 LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199 LEXMATCH -MONDO:0016034 cleft lip with or without cleft palate skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1991 LEXMATCH -MONDO:0016034 cleft lip with or without cleft palate skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18754 LEXMATCH -MONDO:0016034 cleft lip with or without cleft palate skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016034 LEXMATCH -MONDO:0016034 cleft lip with or without cleft palate skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016034 LEXMATCH -MONDO:0016034 cleft lip with or without cleft palate skos:closeMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1991 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028913 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027577 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199244 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7170 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016035 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016035 LEXMATCH -MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199244 LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406571 LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199257 LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20328 LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016037 LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016037 LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199257 LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553647 LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199260 LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20329 LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016038 LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016038 LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199260 LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318562 LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199267 LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8487 LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016039 LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016039 LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:closeMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199267 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535634 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2029348 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199282 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8610 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016040 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016040 LEXMATCH -MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199282 LEXMATCH -MONDO:0016041 congenital microgastria skos:closeMatch Orphanet:199293 Congenital microgastria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199293 LEXMATCH -MONDO:0016041 congenital microgastria skos:closeMatch Orphanet:199293 Congenital microgastria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20330 LEXMATCH -MONDO:0016041 congenital microgastria skos:closeMatch Orphanet:199293 Congenital microgastria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016041 LEXMATCH -MONDO:0016041 congenital microgastria skos:closeMatch Orphanet:199293 Congenital microgastria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016041 LEXMATCH -MONDO:0016041 congenital microgastria skos:closeMatch Orphanet:199293 Congenital microgastria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199293 LEXMATCH -MONDO:0016042 late-onset isolated ACTH deficiency skos:closeMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199299 LEXMATCH -MONDO:0016042 late-onset isolated ACTH deficiency skos:closeMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20331 LEXMATCH -MONDO:0016042 late-onset isolated ACTH deficiency skos:closeMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016042 LEXMATCH -MONDO:0016042 late-onset isolated ACTH deficiency skos:closeMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016042 LEXMATCH -MONDO:0016042 late-onset isolated ACTH deficiency skos:closeMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199299 LEXMATCH -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009259 LEXMATCH -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199302 LEXMATCH -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17091 LEXMATCH -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016043 LEXMATCH -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016043 LEXMATCH -MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199302 LEXMATCH -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009260 LEXMATCH -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199306 LEXMATCH -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17092 LEXMATCH -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016044 LEXMATCH -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016044 LEXMATCH -MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199306 LEXMATCH -MONDO:0016045 tetragametic chimerism skos:closeMatch Orphanet:199310 Tetragametic chimerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199310 LEXMATCH -MONDO:0016045 tetragametic chimerism skos:closeMatch Orphanet:199310 Tetragametic chimerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20332 LEXMATCH -MONDO:0016045 tetragametic chimerism skos:closeMatch Orphanet:199310 Tetragametic chimerism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016045 LEXMATCH -MONDO:0016045 tetragametic chimerism skos:closeMatch Orphanet:199310 Tetragametic chimerism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016045 LEXMATCH -MONDO:0016045 tetragametic chimerism skos:closeMatch Orphanet:199310 Tetragametic chimerism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199310 LEXMATCH -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199315 LEXMATCH -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17093 LEXMATCH -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016046 LEXMATCH -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016046 LEXMATCH -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199315 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014801 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014236 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199323 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20333 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016047 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016047 LEXMATCH -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199323 LEXMATCH -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:closeMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199326 LEXMATCH -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:closeMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20334 LEXMATCH -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:closeMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016048 LEXMATCH -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:closeMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016048 LEXMATCH -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:closeMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199326 LEXMATCH -MONDO:0016049 congenital myopathy, Paradas type skos:closeMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199329 LEXMATCH -MONDO:0016049 congenital myopathy, Paradas type skos:closeMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20335 LEXMATCH -MONDO:0016049 congenital myopathy, Paradas type skos:closeMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016049 LEXMATCH -MONDO:0016049 congenital myopathy, Paradas type skos:closeMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016049 LEXMATCH -MONDO:0016049 congenital myopathy, Paradas type skos:closeMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199329 LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931789 LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1995 LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:435 LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016051 LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016051 LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1995 LEXMATCH -MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003747 LEXMATCH -MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199627 LEXMATCH -MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20336 LEXMATCH -MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016052 LEXMATCH -MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016052 LEXMATCH -MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199627 LEXMATCH -MONDO:0016053 isolated cerebellar vermis hypoplasia skos:closeMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199630 LEXMATCH -MONDO:0016053 isolated cerebellar vermis hypoplasia skos:closeMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20337 LEXMATCH -MONDO:0016053 isolated cerebellar vermis hypoplasia skos:closeMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016053 LEXMATCH -MONDO:0016053 isolated cerebellar vermis hypoplasia skos:closeMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016053 LEXMATCH -MONDO:0016053 isolated cerebellar vermis hypoplasia skos:closeMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199630 LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027534 LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199642 LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3603 LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016056 LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016056 LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199642 LEXMATCH -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014617 LEXMATCH -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:199647 LEXMATCH -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6333 LEXMATCH -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016057 LEXMATCH -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016057 LEXMATCH -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:199647 LEXMATCH -MONDO:0016058 paroxysmal dystonia skos:closeMatch Orphanet:200037 Paroxysmal dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:200037 LEXMATCH -MONDO:0016058 paroxysmal dystonia skos:closeMatch Orphanet:200037 Paroxysmal dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20340 LEXMATCH -MONDO:0016058 paroxysmal dystonia skos:closeMatch Orphanet:200037 Paroxysmal dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016058 LEXMATCH -MONDO:0016058 paroxysmal dystonia skos:closeMatch Orphanet:200037 Paroxysmal dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016058 LEXMATCH -MONDO:0016058 paroxysmal dystonia skos:closeMatch Orphanet:200037 Paroxysmal dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:200037 LEXMATCH -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:closeMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2003 LEXMATCH -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:closeMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18755 LEXMATCH -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:closeMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016059 LEXMATCH -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:closeMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016059 LEXMATCH -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:closeMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2003 LEXMATCH -MONDO:0016060 laryngotracheoesophageal cleft skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2004 LEXMATCH -MONDO:0016060 laryngotracheoesophageal cleft skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3188 LEXMATCH -MONDO:0016060 laryngotracheoesophageal cleft skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016060 LEXMATCH -MONDO:0016060 laryngotracheoesophageal cleft skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016060 LEXMATCH -MONDO:0016060 laryngotracheoesophageal cleft skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2004 LEXMATCH -MONDO:0016061 immunodeficiency with factor H anomaly skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:200421 LEXMATCH -MONDO:0016061 immunodeficiency with factor H anomaly skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17099 LEXMATCH -MONDO:0016061 immunodeficiency with factor H anomaly skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016061 LEXMATCH -MONDO:0016061 immunodeficiency with factor H anomaly skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016061 LEXMATCH -MONDO:0016061 immunodeficiency with factor H anomaly skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:200421 LEXMATCH -MONDO:0016062 median cleft lip/mandibule skos:closeMatch Orphanet:2006 Median cleft lip/mandible semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2006 LEXMATCH -MONDO:0016062 median cleft lip/mandibule skos:closeMatch Orphanet:2006 Median cleft lip/mandible semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18756 LEXMATCH -MONDO:0016062 median cleft lip/mandibule skos:closeMatch Orphanet:2006 Median cleft lip/mandible semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016062 LEXMATCH -MONDO:0016062 median cleft lip/mandibule skos:closeMatch Orphanet:2006 Median cleft lip/mandible semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016062 LEXMATCH -MONDO:0016062 median cleft lip/mandibule skos:closeMatch Orphanet:2006 Median cleft lip/mandible semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2006 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051906 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:201 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6202 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016063 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016063 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:201 LEXMATCH -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009269 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008925 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2014 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1896 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016064 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016064 LEXMATCH -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2014 LEXMATCH -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:closeMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2015 LEXMATCH -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:closeMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1392 LEXMATCH -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:closeMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016065 LEXMATCH -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:closeMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016065 LEXMATCH -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:closeMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2015 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931507 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2017 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5012 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016066 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016066 LEXMATCH -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2017 LEXMATCH -MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432348 LEXMATCH -MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:202 LEXMATCH -MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1561 LEXMATCH -MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016067 LEXMATCH -MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016067 LEXMATCH -MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:202 LEXMATCH -MONDO:0016068 fibrochondrogenesis skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2021 LEXMATCH -MONDO:0016068 fibrochondrogenesis skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2321 LEXMATCH -MONDO:0016068 fibrochondrogenesis skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016068 LEXMATCH -MONDO:0016068 fibrochondrogenesis skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016068 LEXMATCH -MONDO:0016068 fibrochondrogenesis skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2021 LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399440 LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2024 LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16582 LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016070 LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016070 LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2024 LEXMATCH -MONDO:0016071 juvenile hyaline fibromatosis skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2028 LEXMATCH -MONDO:0016071 juvenile hyaline fibromatosis skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16583 LEXMATCH -MONDO:0016071 juvenile hyaline fibromatosis skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016071 LEXMATCH -MONDO:0016071 juvenile hyaline fibromatosis skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016071 LEXMATCH -MONDO:0016071 juvenile hyaline fibromatosis skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2028 LEXMATCH -MONDO:0016073 syndromic microphthalmia skos:closeMatch Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20342 LEXMATCH -MONDO:0016073 syndromic microphthalmia skos:closeMatch Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016073 LEXMATCH -MONDO:0016073 syndromic microphthalmia skos:closeMatch Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016073 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016674 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016085 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2034 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18757 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016075 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016075 LEXMATCH -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2034 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931610 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2037 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:738 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016077 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016077 LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2037 LEXMATCH -MONDO:0016078 congenital systemic arteriovenous fistula skos:closeMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2039 LEXMATCH -MONDO:0016078 congenital systemic arteriovenous fistula skos:closeMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18758 LEXMATCH -MONDO:0016078 congenital systemic arteriovenous fistula skos:closeMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016078 LEXMATCH -MONDO:0016078 congenital systemic arteriovenous fistula skos:closeMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016078 LEXMATCH -MONDO:0016078 congenital systemic arteriovenous fistula skos:closeMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2039 LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011384 LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:204 LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6956 LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016079 LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016079 LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:204 LEXMATCH -MONDO:0016080 congenital bronchobiliary fistula skos:closeMatch Orphanet:2040 Congenital respiratory-biliary fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2040 LEXMATCH -MONDO:0016080 congenital bronchobiliary fistula skos:closeMatch Orphanet:2040 Congenital respiratory-biliary fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1475 LEXMATCH -MONDO:0016080 congenital bronchobiliary fistula skos:closeMatch Orphanet:2040 Congenital respiratory-biliary fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016080 LEXMATCH -MONDO:0016080 congenital bronchobiliary fistula skos:closeMatch Orphanet:2040 Congenital respiratory-biliary fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016080 LEXMATCH -MONDO:0016080 congenital bronchobiliary fistula skos:closeMatch Orphanet:2040 Congenital respiratory-biliary fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2040 LEXMATCH -MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069441 LEXMATCH -MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2041 LEXMATCH -MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1533 LEXMATCH -MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016081 LEXMATCH -MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016081 LEXMATCH -MONDO:0016081 coronary arterial fistulas skos:closeMatch Orphanet:2041 Coronary arterial fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2041 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537065 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931411 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2045 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2346 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016083 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016083 LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2045 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535963 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862178 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2050 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1425 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016085 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016085 LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2050 LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:closeMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563991 LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:closeMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6842 LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:closeMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016086 LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:closeMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016086 LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:closeMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563991 LEXMATCH -MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:closeMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2062 LEXMATCH -MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:closeMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18759 LEXMATCH -MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:closeMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016087 LEXMATCH -MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:closeMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016087 LEXMATCH -MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:closeMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2062 LEXMATCH -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206428 LEXMATCH -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2943 LEXMATCH -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016088 LEXMATCH -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016088 LEXMATCH -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206428 LEXMATCH -MONDO:0016089 infantile Krabbe disease skos:closeMatch Orphanet:206436 Infantile Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206436 LEXMATCH -MONDO:0016089 infantile Krabbe disease skos:closeMatch Orphanet:206436 Infantile Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20343 LEXMATCH -MONDO:0016089 infantile Krabbe disease skos:closeMatch Orphanet:206436 Infantile Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016089 LEXMATCH -MONDO:0016089 infantile Krabbe disease skos:closeMatch Orphanet:206436 Infantile Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016089 LEXMATCH -MONDO:0016089 infantile Krabbe disease skos:closeMatch Orphanet:206436 Infantile Krabbe disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206436 LEXMATCH -MONDO:0016090 late-infantile/juvenile Krabbe disease skos:closeMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206443 LEXMATCH -MONDO:0016090 late-infantile/juvenile Krabbe disease skos:closeMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20344 LEXMATCH -MONDO:0016090 late-infantile/juvenile Krabbe disease skos:closeMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016090 LEXMATCH -MONDO:0016090 late-infantile/juvenile Krabbe disease skos:closeMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016090 LEXMATCH -MONDO:0016090 late-infantile/juvenile Krabbe disease skos:closeMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206443 LEXMATCH -MONDO:0016091 adult Krabbe disease skos:closeMatch Orphanet:206448 Adult Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206448 LEXMATCH -MONDO:0016091 adult Krabbe disease skos:closeMatch Orphanet:206448 Adult Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20345 LEXMATCH -MONDO:0016091 adult Krabbe disease skos:closeMatch Orphanet:206448 Adult Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016091 LEXMATCH -MONDO:0016091 adult Krabbe disease skos:closeMatch Orphanet:206448 Adult Krabbe disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016091 LEXMATCH -MONDO:0016091 adult Krabbe disease skos:closeMatch Orphanet:206448 Adult Krabbe disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206448 LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:closeMatch Orphanet:206470 Cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206470 LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:closeMatch Orphanet:206470 Cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20346 LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:closeMatch Orphanet:206470 Cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016092 LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:closeMatch Orphanet:206470 Cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016092 LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:closeMatch Orphanet:206470 Cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206470 LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206489 LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20347 LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the vagina LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016094 LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016094 LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206489 LEXMATCH -MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206492 LEXMATCH -MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20348 LEXMATCH -MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vulvovaginal rhabdomyosarcoma LEXMATCH -MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016095 LEXMATCH -MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016095 LEXMATCH -MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206492 LEXMATCH -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206538 LEXMATCH -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20349 LEXMATCH -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016096 LEXMATCH -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016096 LEXMATCH -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206538 LEXMATCH -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:closeMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206546 LEXMATCH -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:closeMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20350 LEXMATCH -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:closeMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016097 LEXMATCH -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:closeMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016097 LEXMATCH -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:closeMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206546 LEXMATCH -MONDO:0016098 immune-mediated necrotizing myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206569 LEXMATCH -MONDO:0016098 immune-mediated necrotizing myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20351 LEXMATCH -MONDO:0016098 immune-mediated necrotizing myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016098 LEXMATCH -MONDO:0016098 immune-mediated necrotizing myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016098 LEXMATCH -MONDO:0016098 immune-mediated necrotizing myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206569 LEXMATCH -MONDO:0016099 overlap myositis skos:closeMatch Orphanet:206572 Overlap myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206572 LEXMATCH -MONDO:0016099 overlap myositis skos:closeMatch Orphanet:206572 Overlap myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20352 LEXMATCH -MONDO:0016099 overlap myositis skos:closeMatch Orphanet:206572 Overlap myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016099 LEXMATCH -MONDO:0016099 overlap myositis skos:closeMatch Orphanet:206572 Overlap myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016099 LEXMATCH -MONDO:0016099 overlap myositis skos:closeMatch Orphanet:206572 Overlap myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206572 LEXMATCH -MONDO:0016100 rippling muscle disease with myasthenia gravis skos:closeMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206575 LEXMATCH -MONDO:0016100 rippling muscle disease with myasthenia gravis skos:closeMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20353 LEXMATCH -MONDO:0016100 rippling muscle disease with myasthenia gravis skos:closeMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016100 LEXMATCH -MONDO:0016100 rippling muscle disease with myasthenia gravis skos:closeMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016100 LEXMATCH -MONDO:0016100 rippling muscle disease with myasthenia gravis skos:closeMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206575 LEXMATCH -MONDO:0016101 neurolymphomatosis skos:closeMatch Orphanet:206586 Neurolymphomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206586 LEXMATCH -MONDO:0016101 neurolymphomatosis skos:closeMatch Orphanet:206586 Neurolymphomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20354 LEXMATCH -MONDO:0016101 neurolymphomatosis skos:closeMatch Orphanet:206586 Neurolymphomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016101 LEXMATCH -MONDO:0016101 neurolymphomatosis skos:closeMatch Orphanet:206586 Neurolymphomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016101 LEXMATCH -MONDO:0016101 neurolymphomatosis skos:closeMatch Orphanet:206586 Neurolymphomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206586 LEXMATCH -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:closeMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206594 LEXMATCH -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:closeMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20355 LEXMATCH -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:closeMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016102 LEXMATCH -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:closeMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016102 LEXMATCH -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:closeMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206594 LEXMATCH -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:closeMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206599 LEXMATCH -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:closeMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20356 LEXMATCH -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:closeMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016103 LEXMATCH -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:closeMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016103 LEXMATCH -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:closeMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206599 LEXMATCH -MONDO:0016105 acquired skeletal muscle disease skos:closeMatch Orphanet:206638 Acquired skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20359 LEXMATCH -MONDO:0016105 acquired skeletal muscle disease skos:closeMatch Orphanet:206638 Acquired skeletal muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016105 LEXMATCH -MONDO:0016105 acquired skeletal muscle disease skos:closeMatch Orphanet:206638 Acquired skeletal muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016105 LEXMATCH -MONDO:0016106 progressive muscular dystrophy skos:closeMatch Orphanet:206644 Progressive muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20360 LEXMATCH -MONDO:0016106 progressive muscular dystrophy skos:closeMatch Orphanet:206644 Progressive muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016106 LEXMATCH -MONDO:0016106 progressive muscular dystrophy skos:closeMatch Orphanet:206644 Progressive muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016106 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068871 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027126 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206647 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10419 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016107 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016107 LEXMATCH -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206647 LEXMATCH -MONDO:0016108 autosomal dominant distal myopathy skos:closeMatch Orphanet:206650 Autosomal dominant distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20361 LEXMATCH -MONDO:0016108 autosomal dominant distal myopathy skos:closeMatch Orphanet:206650 Autosomal dominant distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016108 LEXMATCH -MONDO:0016108 autosomal dominant distal myopathy skos:closeMatch Orphanet:206650 Autosomal dominant distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016108 LEXMATCH -MONDO:0016112 hereditary inclusion-body myopathy skos:closeMatch Orphanet:206662 Inclusion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20364 LEXMATCH -MONDO:0016112 hereditary inclusion-body myopathy skos:closeMatch Orphanet:206662 Inclusion myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016112 LEXMATCH -MONDO:0016112 hereditary inclusion-body myopathy skos:closeMatch Orphanet:206662 Inclusion myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016112 LEXMATCH -MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206701 LEXMATCH -MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20365 LEXMATCH -MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016113 LEXMATCH -MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016113 LEXMATCH -MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206701 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206970 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20372 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016120 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016120 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206970 LEXMATCH -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 LEXMATCH -MONDO:0016121 congenital myotonia skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206973 LEXMATCH -MONDO:0016121 congenital myotonia skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20373 LEXMATCH -MONDO:0016121 congenital myotonia skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016121 LEXMATCH -MONDO:0016121 congenital myotonia skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016121 LEXMATCH -MONDO:0016121 congenital myotonia skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206973 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016208 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206976 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20374 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016122 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016122 LEXMATCH -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206976 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051512 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0150005 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206991 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20377 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016126 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016126 LEXMATCH -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206991 LEXMATCH -MONDO:0016127 bacterial myositis skos:closeMatch Orphanet:206994 Bacterial myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206994 LEXMATCH -MONDO:0016127 bacterial myositis skos:closeMatch Orphanet:206994 Bacterial myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20378 LEXMATCH -MONDO:0016127 bacterial myositis skos:closeMatch Orphanet:206994 Bacterial myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016127 LEXMATCH -MONDO:0016127 bacterial myositis skos:closeMatch Orphanet:206994 Bacterial myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016127 LEXMATCH -MONDO:0016127 bacterial myositis skos:closeMatch Orphanet:206994 Bacterial myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206994 LEXMATCH -MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263997 LEXMATCH -MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:206997 LEXMATCH -MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20379 LEXMATCH -MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016128 LEXMATCH -MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016128 LEXMATCH -MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:206997 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017902 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262481 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2070 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9142 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016129 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016129 LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2070 LEXMATCH -MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410251 LEXMATCH -MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:207000 LEXMATCH -MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20380 LEXMATCH -MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016130 LEXMATCH -MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016130 LEXMATCH -MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:207000 LEXMATCH -MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:closeMatch Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20388 LEXMATCH -MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:closeMatch Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016139 LEXMATCH -MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:closeMatch Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016139 LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:closeMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:207052 LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:closeMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20389 LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:closeMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016140 LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:closeMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016140 LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:closeMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:207052 LEXMATCH -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:closeMatch Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20390 LEXMATCH -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:closeMatch Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016141 LEXMATCH -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:closeMatch Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016141 LEXMATCH -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:closeMatch Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20391 LEXMATCH -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:closeMatch Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016142 LEXMATCH -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:closeMatch Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016142 LEXMATCH -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:closeMatch Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20392 LEXMATCH -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:closeMatch Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016143 LEXMATCH -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:closeMatch Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016143 LEXMATCH -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym gamma-sarcoglycanopathy LEXMATCH -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:closeMatch Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20393 LEXMATCH -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:closeMatch Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016144 LEXMATCH -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:closeMatch Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016144 LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931687 LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:207073 LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2003 LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016145 LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016145 LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:207073 LEXMATCH -MONDO:0016146 caveolinopathy skos:closeMatch Orphanet:207078 Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20394 LEXMATCH -MONDO:0016146 caveolinopathy skos:closeMatch Orphanet:207078 Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016146 LEXMATCH -MONDO:0016146 caveolinopathy skos:closeMatch Orphanet:207078 Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016146 LEXMATCH -MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch Orphanet:207085 Qualitative or quantitative defects of dystrophin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2031 LEXMATCH -MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch Orphanet:207085 Qualitative or quantitative defects of dystrophin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016147 LEXMATCH -MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch Orphanet:207085 Qualitative or quantitative defects of dystrophin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016147 LEXMATCH -MONDO:0016151 qualitative or quantitative defects of perlecan skos:closeMatch Orphanet:207101 Qualitative or quantitative defects of perlecan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20398 LEXMATCH -MONDO:0016151 qualitative or quantitative defects of perlecan skos:closeMatch Orphanet:207101 Qualitative or quantitative defects of perlecan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016151 LEXMATCH -MONDO:0016151 qualitative or quantitative defects of perlecan skos:closeMatch Orphanet:207101 Qualitative or quantitative defects of perlecan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016151 LEXMATCH -MONDO:0016153 qualitative or quantitative defects of TRIM32 skos:closeMatch Orphanet:207107 Qualitative or quantitative defects of TRIM32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20400 LEXMATCH -MONDO:0016153 qualitative or quantitative defects of TRIM32 skos:closeMatch Orphanet:207107 Qualitative or quantitative defects of TRIM32 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016153 LEXMATCH -MONDO:0016153 qualitative or quantitative defects of TRIM32 skos:closeMatch Orphanet:207107 Qualitative or quantitative defects of TRIM32 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016153 LEXMATCH -MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:closeMatch Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20402 LEXMATCH -MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:closeMatch Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016155 LEXMATCH -MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:closeMatch Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016155 LEXMATCH -MONDO:0016156 qualitative or quantitative defects of FKRP skos:closeMatch Orphanet:207119 Qualitative or quantitative defects of FKRP semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20403 LEXMATCH -MONDO:0016156 qualitative or quantitative defects of FKRP skos:closeMatch Orphanet:207119 Qualitative or quantitative defects of FKRP semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016156 LEXMATCH -MONDO:0016156 qualitative or quantitative defects of FKRP skos:closeMatch Orphanet:207119 Qualitative or quantitative defects of FKRP semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016156 LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028713 LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2073 LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7162 LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016158 LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016158 LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2073 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931587 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2074 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2451 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016159 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016159 LEXMATCH -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2074 LEXMATCH -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2076 LEXMATCH -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16584 LEXMATCH -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016160 LEXMATCH -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016160 LEXMATCH -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2076 LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:closeMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:208444 LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:closeMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10783 LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:closeMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016162 LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:closeMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016162 LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:closeMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:208444 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:208508 Autosomal dominant cerebellar ataxia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20405 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:208508 Autosomal dominant cerebellar ataxia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016163 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:208508 Autosomal dominant cerebellar ataxia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016163 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164500 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752125 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94147 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4955 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016163 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016163 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164500 LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94147 LEXMATCH -MONDO:0016164 herpetiform pemphigus skos:closeMatch Orphanet:208524 Herpetiform pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:208524 LEXMATCH -MONDO:0016164 herpetiform pemphigus skos:closeMatch Orphanet:208524 Herpetiform pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20406 LEXMATCH -MONDO:0016164 herpetiform pemphigus skos:closeMatch Orphanet:208524 Herpetiform pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016164 LEXMATCH -MONDO:0016164 herpetiform pemphigus skos:closeMatch Orphanet:208524 Herpetiform pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016164 LEXMATCH -MONDO:0016164 herpetiform pemphigus skos:closeMatch Orphanet:208524 Herpetiform pemphigus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:208524 LEXMATCH -MONDO:0016165 hereditary hypoparathyroidism skos:closeMatch Orphanet:208593 Genetic hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20407 LEXMATCH -MONDO:0016165 hereditary hypoparathyroidism skos:closeMatch Orphanet:208593 Genetic hypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016165 LEXMATCH -MONDO:0016165 hereditary hypoparathyroidism skos:closeMatch Orphanet:208593 Genetic hypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016165 LEXMATCH -MONDO:0016166 hereditary hyperparathyroidism skos:closeMatch Orphanet:208596 Genetic hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20408 LEXMATCH -MONDO:0016166 hereditary hyperparathyroidism skos:closeMatch Orphanet:208596 Genetic hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016166 LEXMATCH -MONDO:0016166 hereditary hyperparathyroidism skos:closeMatch Orphanet:208596 Genetic hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016166 LEXMATCH -MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796418 LEXMATCH -MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2086 LEXMATCH -MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4107 LEXMATCH -MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016167 LEXMATCH -MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016167 LEXMATCH -MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2086 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068850 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2316212 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:208650 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10927 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016168 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016168 LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:208650 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010495 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6227 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016175 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016175 LEXMATCH -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209 LEXMATCH -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:closeMatch Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209004 LEXMATCH -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:closeMatch Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20415 LEXMATCH -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:closeMatch Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016176 LEXMATCH -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:closeMatch Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016176 LEXMATCH -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:closeMatch Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209004 LEXMATCH -MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:closeMatch Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20423 LEXMATCH -MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:closeMatch Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016184 LEXMATCH -MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:closeMatch Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016184 LEXMATCH -MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:closeMatch Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20424 LEXMATCH -MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:closeMatch Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016185 LEXMATCH -MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:closeMatch Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016185 LEXMATCH -MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins skos:closeMatch Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20425 LEXMATCH -MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins skos:closeMatch Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016186 LEXMATCH -MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins skos:closeMatch Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016186 LEXMATCH -MONDO:0016187 qualitative or quantitative defects of desmin skos:closeMatch Orphanet:209041 Qualitative or quantitative defects of desmin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20426 LEXMATCH -MONDO:0016187 qualitative or quantitative defects of desmin skos:closeMatch Orphanet:209041 Qualitative or quantitative defects of desmin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016187 LEXMATCH -MONDO:0016187 qualitative or quantitative defects of desmin skos:closeMatch Orphanet:209041 Qualitative or quantitative defects of desmin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016187 LEXMATCH -MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:closeMatch Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20427 LEXMATCH -MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:closeMatch Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016188 LEXMATCH -MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:closeMatch Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016188 LEXMATCH -MONDO:0016189 qualitative or quantitative defects of filamin C skos:closeMatch Orphanet:209047 Qualitative or quantitative defects of filamin C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20428 LEXMATCH -MONDO:0016189 qualitative or quantitative defects of filamin C skos:closeMatch Orphanet:209047 Qualitative or quantitative defects of filamin C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016189 LEXMATCH -MONDO:0016189 qualitative or quantitative defects of filamin C skos:closeMatch Orphanet:209047 Qualitative or quantitative defects of filamin C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016189 LEXMATCH -MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:closeMatch Orphanet:209050 Qualitative or quantitative defects of protein ZASP semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20429 LEXMATCH -MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:closeMatch Orphanet:209050 Qualitative or quantitative defects of protein ZASP semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016190 LEXMATCH -MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:closeMatch Orphanet:209050 Qualitative or quantitative defects of protein ZASP semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016190 LEXMATCH -MONDO:0016191 qualitative or quantitative defects of titin skos:closeMatch Orphanet:209053 Qualitative or quantitative defects of titin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20430 LEXMATCH -MONDO:0016191 qualitative or quantitative defects of titin skos:closeMatch Orphanet:209053 Qualitative or quantitative defects of titin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016191 LEXMATCH -MONDO:0016191 qualitative or quantitative defects of titin skos:closeMatch Orphanet:209053 Qualitative or quantitative defects of titin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016191 LEXMATCH -MONDO:0016192 qualitative or quantitative defects of telethonin skos:closeMatch Orphanet:209056 Qualitative or quantitative defects of telethonin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20431 LEXMATCH -MONDO:0016192 qualitative or quantitative defects of telethonin skos:closeMatch Orphanet:209056 Qualitative or quantitative defects of telethonin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016192 LEXMATCH -MONDO:0016192 qualitative or quantitative defects of telethonin skos:closeMatch Orphanet:209056 Qualitative or quantitative defects of telethonin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016192 LEXMATCH -MONDO:0016193 qualitative or quantitative defects of alpha-actin skos:closeMatch Orphanet:209059 Qualitative or quantitative defects of alpha-actin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20432 LEXMATCH -MONDO:0016193 qualitative or quantitative defects of alpha-actin skos:closeMatch Orphanet:209059 Qualitative or quantitative defects of alpha-actin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016193 LEXMATCH -MONDO:0016193 qualitative or quantitative defects of alpha-actin skos:closeMatch Orphanet:209059 Qualitative or quantitative defects of alpha-actin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016193 LEXMATCH -MONDO:0016194 qualitative or quantitative defects of nebulin skos:closeMatch Orphanet:209182 Qualitative or quantitative defects of nebulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20433 LEXMATCH -MONDO:0016194 qualitative or quantitative defects of nebulin skos:closeMatch Orphanet:209182 Qualitative or quantitative defects of nebulin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016194 LEXMATCH -MONDO:0016194 qualitative or quantitative defects of nebulin skos:closeMatch Orphanet:209182 Qualitative or quantitative defects of nebulin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016194 LEXMATCH -MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:closeMatch Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20434 LEXMATCH -MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:closeMatch Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016195 LEXMATCH -MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:closeMatch Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016195 LEXMATCH -MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 skos:closeMatch Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20436 LEXMATCH -MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 skos:closeMatch Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016197 LEXMATCH -MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 skos:closeMatch Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016197 LEXMATCH -MONDO:0016198 qualitative or quantitative defects of plectin skos:closeMatch Orphanet:209196 Qualitative or quantitative defects of plectin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20437 LEXMATCH -MONDO:0016198 qualitative or quantitative defects of plectin skos:closeMatch Orphanet:209196 Qualitative or quantitative defects of plectin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016198 LEXMATCH -MONDO:0016198 qualitative or quantitative defects of plectin skos:closeMatch Orphanet:209196 Qualitative or quantitative defects of plectin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016198 LEXMATCH -MONDO:0016199 qualitative or quantitative defects of protein SERCA1 skos:closeMatch Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20438 LEXMATCH -MONDO:0016199 qualitative or quantitative defects of protein SERCA1 skos:closeMatch Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016199 LEXMATCH -MONDO:0016199 qualitative or quantitative defects of protein SERCA1 skos:closeMatch Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016199 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836081 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209867 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17104 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016202 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016202 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209867 LEXMATCH -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:closeMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209902 LEXMATCH -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:closeMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20441 LEXMATCH -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:closeMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016203 LEXMATCH -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:closeMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016203 LEXMATCH -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:closeMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209902 LEXMATCH -MONDO:0016204 idiopathic copper-associated cirrhosis skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209919 LEXMATCH -MONDO:0016204 idiopathic copper-associated cirrhosis skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17106 LEXMATCH -MONDO:0016204 idiopathic copper-associated cirrhosis skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016204 LEXMATCH -MONDO:0016204 idiopathic copper-associated cirrhosis skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016204 LEXMATCH -MONDO:0016204 idiopathic copper-associated cirrhosis skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209919 LEXMATCH -MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665812 LEXMATCH -MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209943 LEXMATCH -MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12868 LEXMATCH -MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016205 LEXMATCH -MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016205 LEXMATCH -MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209943 LEXMATCH -MONDO:0016206 idiopathic uveal effusion syndrome skos:closeMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209956 LEXMATCH -MONDO:0016206 idiopathic uveal effusion syndrome skos:closeMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20442 LEXMATCH -MONDO:0016206 idiopathic uveal effusion syndrome skos:closeMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016206 LEXMATCH -MONDO:0016206 idiopathic uveal effusion syndrome skos:closeMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016206 LEXMATCH -MONDO:0016206 idiopathic uveal effusion syndrome skos:closeMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209956 LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209959 LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20443 LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lens-induced iridocyclitis LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016207 LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016207 LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209959 LEXMATCH -MONDO:0016208 solitary rectal ulcer syndrome skos:closeMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209964 LEXMATCH -MONDO:0016208 solitary rectal ulcer syndrome skos:closeMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20444 LEXMATCH -MONDO:0016208 solitary rectal ulcer syndrome skos:closeMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016208 LEXMATCH -MONDO:0016208 solitary rectal ulcer syndrome skos:closeMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016208 LEXMATCH -MONDO:0016208 solitary rectal ulcer syndrome skos:closeMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209964 LEXMATCH -MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209973 LEXMATCH -MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20445 LEXMATCH -MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign nocturnal alternating hemiplegia of childhood LEXMATCH -MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016209 LEXMATCH -MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016209 LEXMATCH -MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209973 LEXMATCH -MONDO:0016210 alternating hemiplegia skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209978 LEXMATCH -MONDO:0016210 alternating hemiplegia skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20446 LEXMATCH -MONDO:0016210 alternating hemiplegia skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016210 LEXMATCH -MONDO:0016210 alternating hemiplegia skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016210 LEXMATCH -MONDO:0016210 alternating hemiplegia skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209978 LEXMATCH -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:closeMatch Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:209989 LEXMATCH -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:closeMatch Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20447 LEXMATCH -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:closeMatch Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016211 LEXMATCH -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:closeMatch Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016211 LEXMATCH -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:closeMatch Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:209989 LEXMATCH -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:closeMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210133 LEXMATCH -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:closeMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20448 LEXMATCH -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:closeMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016213 LEXMATCH -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:closeMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016213 LEXMATCH -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:closeMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210133 LEXMATCH -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:closeMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210136 LEXMATCH -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:closeMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20449 LEXMATCH -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:closeMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016214 LEXMATCH -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:closeMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016214 LEXMATCH -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:closeMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210136 LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210141 LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17109 LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited congenital spastic tetraplegia LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016215 LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016215 LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210141 LEXMATCH -MONDO:0016216 adult hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210159 LEXMATCH -MONDO:0016216 adult hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6608 LEXMATCH -MONDO:0016216 adult hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016216 LEXMATCH -MONDO:0016216 adult hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016216 LEXMATCH -MONDO:0016216 adult hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210159 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064924 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608983 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210272 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6959 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de débarquement LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016217 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016217 LEXMATCH -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210272 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018767 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018378 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2103 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6554 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016218 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016218 LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2103 LEXMATCH -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:closeMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2104 LEXMATCH -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:closeMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18760 LEXMATCH -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:closeMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016219 LEXMATCH -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:closeMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016219 LEXMATCH -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:closeMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2104 LEXMATCH -MONDO:0016220 congenital temporomandibular joint ankylosis skos:closeMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210576 LEXMATCH -MONDO:0016220 congenital temporomandibular joint ankylosis skos:closeMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20450 LEXMATCH -MONDO:0016220 congenital temporomandibular joint ankylosis skos:closeMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016220 LEXMATCH -MONDO:0016220 congenital temporomandibular joint ankylosis skos:closeMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016220 LEXMATCH -MONDO:0016220 congenital temporomandibular joint ankylosis skos:closeMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210576 LEXMATCH -MONDO:0016221 temporomandibular joint anomaly skos:closeMatch Orphanet:210581 Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210581 LEXMATCH -MONDO:0016221 temporomandibular joint anomaly skos:closeMatch Orphanet:210581 Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20451 LEXMATCH -MONDO:0016221 temporomandibular joint anomaly skos:closeMatch Orphanet:210581 Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016221 LEXMATCH -MONDO:0016221 temporomandibular joint anomaly skos:closeMatch Orphanet:210581 Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016221 LEXMATCH -MONDO:0016221 temporomandibular joint anomaly skos:closeMatch Orphanet:210581 Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210581 LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304508 LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:210584 LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20452 LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016222 LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016222 LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:210584 LEXMATCH -MONDO:0016223 infantile hemangioma of rare localization skos:closeMatch Orphanet:210589 Infantile hemangioma of rare localization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20453 LEXMATCH -MONDO:0016223 infantile hemangioma of rare localization skos:closeMatch Orphanet:210589 Infantile hemangioma of rare localization semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016223 LEXMATCH -MONDO:0016223 infantile hemangioma of rare localization skos:closeMatch Orphanet:210589 Infantile hemangioma of rare localization semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016223 LEXMATCH -MONDO:0016225 specific learning disability skos:closeMatch Orphanet:211047 Specific learning disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20455 LEXMATCH -MONDO:0016225 specific learning disability skos:closeMatch Orphanet:211047 Specific learning disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016225 LEXMATCH -MONDO:0016225 specific learning disability skos:closeMatch Orphanet:211047 Specific learning disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016225 LEXMATCH -MONDO:0016226 specific language disorder skos:closeMatch Orphanet:211053 Specific language disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20456 LEXMATCH -MONDO:0016226 specific language disorder skos:closeMatch Orphanet:211053 Specific language disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016226 LEXMATCH -MONDO:0016226 specific language disorder skos:closeMatch Orphanet:211053 Specific language disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016226 LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:211062 Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:211062 LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:211062 Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20457 LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:211062 Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016227 LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:211062 Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016227 LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:211062 Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:211062 LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isaacs syndrome LEXMATCH -MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:211247 LEXMATCH -MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20461 LEXMATCH -MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare capillary malformation LEXMATCH -MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capillary malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016231 LEXMATCH -MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capillary malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016231 LEXMATCH -MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capillary malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:211247 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367420 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2122 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3077 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016236 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016236 LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2122 LEXMATCH -MONDO:0016237 diffuse neonatal hemangiomatosis skos:closeMatch Orphanet:2123 Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2123 LEXMATCH -MONDO:0016237 diffuse neonatal hemangiomatosis skos:closeMatch Orphanet:2123 Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1861 LEXMATCH -MONDO:0016237 diffuse neonatal hemangiomatosis skos:closeMatch Orphanet:2123 Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016237 LEXMATCH -MONDO:0016237 diffuse neonatal hemangiomatosis skos:closeMatch Orphanet:2123 Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016237 LEXMATCH -MONDO:0016237 diffuse neonatal hemangiomatosis skos:closeMatch Orphanet:2123 Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2123 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018825 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2126 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15014 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016238 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016238 LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2126 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011777 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010690 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6236 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016239 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016239 LEXMATCH -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019464 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018987 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2130 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18761 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016240 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016240 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2130 LEXMATCH -MONDO:0016240 hemimelia skos:closeMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016240 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alternating hemiplegia LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338488 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2131 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016241 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016241 LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2131 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018883 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019021 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2132 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2640 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016242 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016242 LEXMATCH -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2132 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053215 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238159 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2133 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2641 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016243 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016243 LEXMATCH -MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2133 LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931788 LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2134 LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8702 LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016244 LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016244 LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2134 LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213589 LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20472 LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mixed epithelial and mesenchymal cancer of corpus uteri LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant mixed epithelial and mesenchymal tumor of corpus uteri LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016255 LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016255 LEXMATCH -MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213589 LEXMATCH -MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340834 LEXMATCH -MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2136 LEXMATCH -MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3318 LEXMATCH -MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016256 LEXMATCH -MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016256 LEXMATCH -MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2136 LEXMATCH -MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213605 LEXMATCH -MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20474 LEXMATCH -MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinofibroma of the corpus uteri LEXMATCH -MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016258 LEXMATCH -MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016258 LEXMATCH -MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213605 LEXMATCH -MONDO:0016259 carcinosarcoma of the corpus uteri skos:closeMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213610 LEXMATCH -MONDO:0016259 carcinosarcoma of the corpus uteri skos:closeMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12335 LEXMATCH -MONDO:0016259 carcinosarcoma of the corpus uteri skos:closeMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016259 LEXMATCH -MONDO:0016259 carcinosarcoma of the corpus uteri skos:closeMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016259 LEXMATCH -MONDO:0016259 carcinosarcoma of the corpus uteri skos:closeMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213610 LEXMATCH -MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213615 LEXMATCH -MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20475 LEXMATCH -MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma of the corpus uteri LEXMATCH -MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016260 LEXMATCH -MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016260 LEXMATCH -MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213615 LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280631 LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213625 LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20477 LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016262 LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016262 LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213625 LEXMATCH -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:closeMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213630 LEXMATCH -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:closeMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20478 LEXMATCH -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:closeMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016263 LEXMATCH -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:closeMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016263 LEXMATCH -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:closeMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213630 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003827 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0241910 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2137 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5871 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016264 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016264 LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2137 LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213716 LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20479 LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial squamous cell carcinoma LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016266 LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016266 LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213716 LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213721 LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20480 LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016267 LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016267 LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213721 LEXMATCH -MONDO:0016268 papillary carcinoma of the corpus uteri skos:closeMatch Orphanet:213726 Serous carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213726 LEXMATCH -MONDO:0016268 papillary carcinoma of the corpus uteri skos:closeMatch Orphanet:213726 Serous carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20481 LEXMATCH -MONDO:0016268 papillary carcinoma of the corpus uteri skos:closeMatch Orphanet:213726 Serous carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016268 LEXMATCH -MONDO:0016268 papillary carcinoma of the corpus uteri skos:closeMatch Orphanet:213726 Serous carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016268 LEXMATCH -MONDO:0016268 papillary carcinoma of the corpus uteri skos:closeMatch Orphanet:213726 Serous carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213726 LEXMATCH -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:closeMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213731 LEXMATCH -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:closeMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20482 LEXMATCH -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:closeMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016269 LEXMATCH -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:closeMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016269 LEXMATCH -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:closeMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213731 LEXMATCH -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:closeMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213736 LEXMATCH -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:closeMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20483 LEXMATCH -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:closeMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016270 LEXMATCH -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:closeMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016270 LEXMATCH -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:closeMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213736 LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213746 LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20484 LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial transitional cell carcinoma LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016272 LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016272 LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213746 LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213751 LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20485 LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the corpus uteri LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016273 LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016273 LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213751 LEXMATCH -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:closeMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213777 LEXMATCH -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:closeMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20489 LEXMATCH -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:closeMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016276 LEXMATCH -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:closeMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016276 LEXMATCH -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:closeMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213777 LEXMATCH -MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:closeMatch Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20490 LEXMATCH -MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:closeMatch Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016277 LEXMATCH -MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:closeMatch Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016277 LEXMATCH -MONDO:0016280 sarcoma of cervix uteri skos:closeMatch Orphanet:213797 Sarcoma of cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20493 LEXMATCH -MONDO:0016280 sarcoma of cervix uteri skos:closeMatch Orphanet:213797 Sarcoma of cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016280 LEXMATCH -MONDO:0016280 sarcoma of cervix uteri skos:closeMatch Orphanet:213797 Sarcoma of cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016280 LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2138 LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16585 LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016281 LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016281 LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2138 LEXMATCH -MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213802 LEXMATCH -MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20494 LEXMATCH -MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016282 LEXMATCH -MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016282 LEXMATCH -MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213802 LEXMATCH -MONDO:0016283 leiomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213807 LEXMATCH -MONDO:0016283 leiomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20495 LEXMATCH -MONDO:0016283 leiomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016283 LEXMATCH -MONDO:0016283 leiomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016283 LEXMATCH -MONDO:0016283 leiomyosarcoma of the cervix uteri skos:closeMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213807 LEXMATCH -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213812 LEXMATCH -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20496 LEXMATCH -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016284 LEXMATCH -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016284 LEXMATCH -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:closeMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213812 LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213828 LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20499 LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cervical adenoid basal carcinoma LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016287 LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016287 LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213828 LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213837 LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20501 LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the cervix uteri LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016289 LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016289 LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213837 LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538112 LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2139 LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3491 LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016290 LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016290 LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2139 LEXMATCH -MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:closeMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2145 LEXMATCH -MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:closeMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18762 LEXMATCH -MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:closeMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016291 LEXMATCH -MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:closeMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016291 LEXMATCH -MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:closeMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2145 LEXMATCH -MONDO:0016292 nodular neuronal heterotopia skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2149 LEXMATCH -MONDO:0016292 nodular neuronal heterotopia skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16586 LEXMATCH -MONDO:0016292 nodular neuronal heterotopia skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016292 LEXMATCH -MONDO:0016292 nodular neuronal heterotopia skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016292 LEXMATCH -MONDO:0016292 nodular neuronal heterotopia skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2149 LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:215 LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3995 LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016293 LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016293 LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:215 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306980 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844017 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2150 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2700 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016294 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016294 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:306980 LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2150 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10739 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016295 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016295 LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056304 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2162 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6665 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016296 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016296 LEXMATCH -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2162 LEXMATCH -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2165 LEXMATCH -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2722 LEXMATCH -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016299 LEXMATCH -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016299 LEXMATCH -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:closeMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2165 LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011120 LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216694 LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1544 LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016301 LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016301 LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216694 LEXMATCH -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:closeMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216718 LEXMATCH -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:closeMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20502 LEXMATCH -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:closeMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016302 LEXMATCH -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:closeMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016302 LEXMATCH -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:closeMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216718 LEXMATCH -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216729 LEXMATCH -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20503 LEXMATCH -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016303 LEXMATCH -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016303 LEXMATCH -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216729 LEXMATCH -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216866 LEXMATCH -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17114 LEXMATCH -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016304 LEXMATCH -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016304 LEXMATCH -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216866 LEXMATCH -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216873 LEXMATCH -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17115 LEXMATCH -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016305 LEXMATCH -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016305 LEXMATCH -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216873 LEXMATCH -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:closeMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216972 LEXMATCH -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:closeMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20504 LEXMATCH -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:closeMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016306 LEXMATCH -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:closeMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016306 LEXMATCH -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:closeMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216972 LEXMATCH -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:closeMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216975 LEXMATCH -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:closeMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20505 LEXMATCH -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:closeMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016307 LEXMATCH -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:closeMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016307 LEXMATCH -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:closeMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216975 LEXMATCH -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:closeMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216978 LEXMATCH -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:closeMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20506 LEXMATCH -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:closeMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016308 LEXMATCH -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:closeMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016308 LEXMATCH -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:closeMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216978 LEXMATCH -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:closeMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216981 LEXMATCH -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:closeMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20507 LEXMATCH -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:closeMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016309 LEXMATCH -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:closeMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016309 LEXMATCH -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:closeMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216981 LEXMATCH -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:216986 LEXMATCH -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20508 LEXMATCH -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016310 LEXMATCH -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016310 LEXMATCH -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:216986 LEXMATCH -MONDO:0016311 Bockenheimer syndrome skos:closeMatch Orphanet:217008 Bockenheimer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217008 LEXMATCH -MONDO:0016311 Bockenheimer syndrome skos:closeMatch Orphanet:217008 Bockenheimer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13063 LEXMATCH -MONDO:0016311 Bockenheimer syndrome skos:closeMatch Orphanet:217008 Bockenheimer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016311 LEXMATCH -MONDO:0016311 Bockenheimer syndrome skos:closeMatch Orphanet:217008 Bockenheimer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016311 LEXMATCH -MONDO:0016311 Bockenheimer syndrome skos:closeMatch Orphanet:217008 Bockenheimer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217008 LEXMATCH -MONDO:0016312 5-fluorouracil poisoning skos:closeMatch Orphanet:217064 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217064 LEXMATCH -MONDO:0016312 5-fluorouracil poisoning skos:closeMatch Orphanet:217064 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20509 LEXMATCH -MONDO:0016312 5-fluorouracil poisoning skos:closeMatch Orphanet:217064 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016312 LEXMATCH -MONDO:0016312 5-fluorouracil poisoning skos:closeMatch Orphanet:217064 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016312 LEXMATCH -MONDO:0016312 5-fluorouracil poisoning skos:closeMatch Orphanet:217064 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217064 LEXMATCH -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217085 LEXMATCH -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17118 LEXMATCH -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016315 LEXMATCH -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016315 LEXMATCH -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217085 LEXMATCH -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217093 LEXMATCH -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17119 LEXMATCH -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016316 LEXMATCH -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016316 LEXMATCH -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217093 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036807 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023524 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217260 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7468 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016318 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016318 LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217260 LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:closeMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217399 LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:closeMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20514 LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:closeMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016319 LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:closeMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016319 LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:closeMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217399 LEXMATCH -MONDO:0016321 pulmonary interstitial glycogenosis skos:closeMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217557 LEXMATCH -MONDO:0016321 pulmonary interstitial glycogenosis skos:closeMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20516 LEXMATCH -MONDO:0016321 pulmonary interstitial glycogenosis skos:closeMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016321 LEXMATCH -MONDO:0016321 pulmonary interstitial glycogenosis skos:closeMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016321 LEXMATCH -MONDO:0016321 pulmonary interstitial glycogenosis skos:closeMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217557 LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161105 LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217560 LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20517 LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016322 LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016322 LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217560 LEXMATCH -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217566 LEXMATCH -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17127 LEXMATCH -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016323 LEXMATCH -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016323 LEXMATCH -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217566 LEXMATCH -MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:217598 Non-familial hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20524 LEXMATCH -MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:217598 Non-familial hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016330 LEXMATCH -MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:217598 Non-familial hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016330 LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236490 LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2176 LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6807 LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016331 LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016331 LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2176 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217607 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20525 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016333 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016333 LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217607 LEXMATCH -MONDO:0016338 non-familial dilated cardiomyopathy skos:closeMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217629 LEXMATCH -MONDO:0016338 non-familial dilated cardiomyopathy skos:closeMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20530 LEXMATCH -MONDO:0016338 non-familial dilated cardiomyopathy skos:closeMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016338 LEXMATCH -MONDO:0016338 non-familial dilated cardiomyopathy skos:closeMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016338 LEXMATCH -MONDO:0016338 non-familial dilated cardiomyopathy skos:closeMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217629 LEXMATCH -MONDO:0016340 familial restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217635 LEXMATCH -MONDO:0016340 familial restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20532 LEXMATCH -MONDO:0016340 familial restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016340 LEXMATCH -MONDO:0016340 familial restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016340 LEXMATCH -MONDO:0016340 familial restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217635 LEXMATCH -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217656 LEXMATCH -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17129 LEXMATCH -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016342 LEXMATCH -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016342 LEXMATCH -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217656 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020225 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2177 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6681 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016344 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016344 LEXMATCH -MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2177 LEXMATCH -MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217720 LEXMATCH -MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20535 LEXMATCH -MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016345 LEXMATCH -MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016345 LEXMATCH -MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217720 LEXMATCH -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:closeMatch Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2775 LEXMATCH -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:closeMatch Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016346 LEXMATCH -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:closeMatch Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016346 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010506 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020256 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2185 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6682 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016349 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016349 LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2185 LEXMATCH -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:closeMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2186 LEXMATCH -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:closeMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:236 LEXMATCH -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:closeMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016350 LEXMATCH -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:closeMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016350 LEXMATCH -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:closeMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2186 LEXMATCH -MONDO:0016351 anti-HLA hyperimmunization skos:closeMatch Orphanet:2194 Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2194 LEXMATCH -MONDO:0016351 anti-HLA hyperimmunization skos:closeMatch Orphanet:2194 Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:730 LEXMATCH -MONDO:0016351 anti-HLA hyperimmunization skos:closeMatch Orphanet:2194 Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016351 LEXMATCH -MONDO:0016351 anti-HLA hyperimmunization skos:closeMatch Orphanet:2194 Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016351 LEXMATCH -MONDO:0016351 anti-HLA hyperimmunization skos:closeMatch Orphanet:2194 Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2194 LEXMATCH -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2201 LEXMATCH -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3095 LEXMATCH -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016353 LEXMATCH -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016353 LEXMATCH -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2201 LEXMATCH -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220295 LEXMATCH -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17130 LEXMATCH -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016354 LEXMATCH -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016354 LEXMATCH -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220295 LEXMATCH -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220393 LEXMATCH -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9751 LEXMATCH -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016356 LEXMATCH -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016356 LEXMATCH -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220393 LEXMATCH -MONDO:0016357 dysplastic cortical hyperostosis skos:closeMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2022 LEXMATCH -MONDO:0016357 dysplastic cortical hyperostosis skos:closeMatch Orphanet:646139 Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:646139 LEXMATCH -MONDO:0016357 dysplastic cortical hyperostosis skos:closeMatch Orphanet:646139 Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016357 LEXMATCH -MONDO:0016357 dysplastic cortical hyperostosis skos:closeMatch Orphanet:646139 Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016357 LEXMATCH -MONDO:0016357 dysplastic cortical hyperostosis skos:closeMatch Orphanet:646139 Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:646139 LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748540 LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220402 LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1053 LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016358 LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016358 LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220402 LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290138 LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220407 LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9749 LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016359 LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016359 LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220407 LEXMATCH -MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:closeMatch Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220448 LEXMATCH -MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:closeMatch Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20538 LEXMATCH -MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:closeMatch Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016360 LEXMATCH -MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:closeMatch Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016360 LEXMATCH -MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency skos:closeMatch Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220448 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674616 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220460 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8532 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016362 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016362 LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220460 LEXMATCH -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220493 LEXMATCH -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10168 LEXMATCH -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016364 LEXMATCH -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016364 LEXMATCH -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220493 LEXMATCH -MONDO:0016365 familial primary hyperparathyroidism skos:closeMatch Orphanet:2207 Familial primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2837 LEXMATCH -MONDO:0016365 familial primary hyperparathyroidism skos:closeMatch Orphanet:2207 Familial primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016365 LEXMATCH -MONDO:0016365 familial primary hyperparathyroidism skos:closeMatch Orphanet:2207 Familial primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016365 LEXMATCH -MONDO:0016366 maternal phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2209 LEXMATCH -MONDO:0016366 maternal phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3413 LEXMATCH -MONDO:0016366 maternal phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016366 LEXMATCH -MONDO:0016366 maternal phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016366 LEXMATCH -MONDO:0016366 maternal phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2209 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012503 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011633 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6263 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016367 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016367 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221 LEXMATCH -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:645617 Amyopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyopathic dermatomyositis LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618625 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221008 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17134 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618625 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016368 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016368 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618625 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221008 LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618625 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268400 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221016 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17135 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016369 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016369 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268400 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221016 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268400 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238265 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221074 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6971 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016370 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016370 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221074 LEXMATCH -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:closeMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221078 LEXMATCH -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:closeMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20541 LEXMATCH -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:closeMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016371 LEXMATCH -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:closeMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016371 LEXMATCH -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:closeMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221078 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018391 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154731 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221098 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6519 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016372 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016372 LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221098 LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010269 LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221109 LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20542 LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym facial neuralgia LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016374 LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016374 LEXMATCH -MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221109 LEXMATCH -MONDO:0016376 confetti-like macular atrophy skos:closeMatch Orphanet:221142 Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221142 LEXMATCH -MONDO:0016376 confetti-like macular atrophy skos:closeMatch Orphanet:221142 Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20544 LEXMATCH -MONDO:0016376 confetti-like macular atrophy skos:closeMatch Orphanet:221142 Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016376 LEXMATCH -MONDO:0016376 confetti-like macular atrophy skos:closeMatch Orphanet:221142 Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016376 LEXMATCH -MONDO:0016376 confetti-like macular atrophy skos:closeMatch Orphanet:221142 Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221142 LEXMATCH -MONDO:0016378 maternal hyperthermia induced birth defects skos:closeMatch Orphanet:2216 Maternal hyperthermia-induced birth defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2216 LEXMATCH -MONDO:0016378 maternal hyperthermia induced birth defects skos:closeMatch Orphanet:2216 Maternal hyperthermia-induced birth defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2856 LEXMATCH -MONDO:0016378 maternal hyperthermia induced birth defects skos:closeMatch Orphanet:2216 Maternal hyperthermia-induced birth defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016378 LEXMATCH -MONDO:0016378 maternal hyperthermia induced birth defects skos:closeMatch Orphanet:2216 Maternal hyperthermia-induced birth defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016378 LEXMATCH -MONDO:0016378 maternal hyperthermia induced birth defects skos:closeMatch Orphanet:2216 Maternal hyperthermia-induced birth defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2216 LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406464 LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:222 LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2188 LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016379 LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016379 LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:222 LEXMATCH -MONDO:0016380 acquired hypertrichosis lanuginosa skos:closeMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2221 LEXMATCH -MONDO:0016380 acquired hypertrichosis lanuginosa skos:closeMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2864 LEXMATCH -MONDO:0016380 acquired hypertrichosis lanuginosa skos:closeMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016380 LEXMATCH -MONDO:0016380 acquired hypertrichosis lanuginosa skos:closeMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016380 LEXMATCH -MONDO:0016380 acquired hypertrichosis lanuginosa skos:closeMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2221 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538389 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145700 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2222 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2865 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016381 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016381 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145700 LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2222 LEXMATCH -MONDO:0016382 hereditary poikiloderma skos:closeMatch Orphanet:222628 Hereditary poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20545 LEXMATCH -MONDO:0016382 hereditary poikiloderma skos:closeMatch Orphanet:222628 Hereditary poikiloderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016382 LEXMATCH -MONDO:0016382 hereditary poikiloderma skos:closeMatch Orphanet:222628 Hereditary poikiloderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016382 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029147 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:223 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7178 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016383 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016383 LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:223 LEXMATCH -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:closeMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2230 LEXMATCH -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:closeMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:324 LEXMATCH -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:closeMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016384 LEXMATCH -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:closeMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016384 LEXMATCH -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:closeMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2230 LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931685 LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2233 LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1078 LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016385 LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016385 LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2233 LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931722 LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2235 LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1234 LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016386 LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016386 LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2235 LEXMATCH -MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:closeMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:223713 LEXMATCH -MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:closeMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20546 LEXMATCH -MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:closeMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016387 LEXMATCH -MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:closeMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016387 LEXMATCH -MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:closeMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:223713 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537156 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832648 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2238 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2910 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016390 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016390 LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2238 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028933 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158981 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:224 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18682 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016391 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016391 LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:224 LEXMATCH -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2246 LEXMATCH -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1196 LEXMATCH -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016392 LEXMATCH -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016392 LEXMATCH -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2246 LEXMATCH -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2250 LEXMATCH -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16590 LEXMATCH -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016393 LEXMATCH -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016393 LEXMATCH -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2250 LEXMATCH -MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:closeMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:225147 LEXMATCH -MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:closeMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20549 LEXMATCH -MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:closeMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016394 LEXMATCH -MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:closeMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016394 LEXMATCH -MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:closeMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:225147 LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931644 LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2253 LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:406 LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016395 LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016395 LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2253 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843504 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2254 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10704 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016396 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016396 LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2254 LEXMATCH -MONDO:0016407 oligomeganephronia skos:closeMatch Orphanet:2260 Oligomeganephronia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2260 LEXMATCH -MONDO:0016407 oligomeganephronia skos:closeMatch Orphanet:2260 Oligomeganephronia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4066 LEXMATCH -MONDO:0016407 oligomeganephronia skos:closeMatch Orphanet:2260 Oligomeganephronia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016407 LEXMATCH -MONDO:0016407 oligomeganephronia skos:closeMatch Orphanet:2260 Oligomeganephronia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016407 LEXMATCH -MONDO:0016407 oligomeganephronia skos:closeMatch Orphanet:2260 Oligomeganephronia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2260 LEXMATCH -MONDO:0016408 permanent congenital hypothyroidism skos:closeMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:226292 LEXMATCH -MONDO:0016408 permanent congenital hypothyroidism skos:closeMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20560 LEXMATCH -MONDO:0016408 permanent congenital hypothyroidism skos:closeMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016408 LEXMATCH -MONDO:0016408 permanent congenital hypothyroidism skos:closeMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016408 LEXMATCH -MONDO:0016408 permanent congenital hypothyroidism skos:closeMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:226292 LEXMATCH -MONDO:0016410 central congenital hypothyroidism skos:closeMatch Orphanet:226298 Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:226298 LEXMATCH -MONDO:0016410 central congenital hypothyroidism skos:closeMatch Orphanet:226298 Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12280 LEXMATCH -MONDO:0016410 central congenital hypothyroidism skos:closeMatch Orphanet:226298 Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016410 LEXMATCH -MONDO:0016410 central congenital hypothyroidism skos:closeMatch Orphanet:226298 Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016410 LEXMATCH -MONDO:0016410 central congenital hypothyroidism skos:closeMatch Orphanet:226298 Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:226298 LEXMATCH -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:closeMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:226307 LEXMATCH -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:closeMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20562 LEXMATCH -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:closeMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016411 LEXMATCH -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:closeMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016411 LEXMATCH -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:closeMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:226307 LEXMATCH -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:closeMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:226313 LEXMATCH -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:closeMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20563 LEXMATCH -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:closeMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016413 LEXMATCH -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:closeMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016413 LEXMATCH -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:closeMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:226313 LEXMATCH -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:closeMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2266 LEXMATCH -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:closeMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18763 LEXMATCH -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:closeMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016414 LEXMATCH -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:closeMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016414 LEXMATCH -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:closeMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2266 LEXMATCH -MONDO:0016416 diphallia skos:closeMatch Orphanet:227 Diphallia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227 LEXMATCH -MONDO:0016416 diphallia skos:closeMatch Orphanet:227 Diphallia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1872 LEXMATCH -MONDO:0016416 diphallia skos:closeMatch Orphanet:227 Diphallia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016416 LEXMATCH -MONDO:0016416 diphallia skos:closeMatch Orphanet:227 Diphallia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016416 LEXMATCH -MONDO:0016416 diphallia skos:closeMatch Orphanet:227 Diphallia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227 LEXMATCH -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:closeMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2271 LEXMATCH -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:closeMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1489 LEXMATCH -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:closeMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016417 LEXMATCH -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:closeMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016417 LEXMATCH -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:closeMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2271 LEXMATCH -MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227510 LEXMATCH -MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20565 LEXMATCH -MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016418 LEXMATCH -MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016418 LEXMATCH -MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227510 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114480 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346153 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227535 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17142 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:114480 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016419 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016419 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:114480 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227535 LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:114480 LEXMATCH -MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051222 LEXMATCH -MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227972 LEXMATCH -MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20566 LEXMATCH -MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016421 LEXMATCH -MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016421 LEXMATCH -MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227972 LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535942 LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227982 LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10980 LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016422 LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016422 LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227982 LEXMATCH -MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:closeMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:227990 LEXMATCH -MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:closeMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20567 LEXMATCH -MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:closeMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016423 LEXMATCH -MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:closeMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016423 LEXMATCH -MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:closeMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:227990 LEXMATCH -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228012 LEXMATCH -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17145 LEXMATCH -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016424 LEXMATCH -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016424 LEXMATCH -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228012 LEXMATCH -MONDO:0016425 Hughes-Stovin syndrome skos:closeMatch Orphanet:228116 Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228116 LEXMATCH -MONDO:0016425 Hughes-Stovin syndrome skos:closeMatch Orphanet:228116 Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20569 LEXMATCH -MONDO:0016425 Hughes-Stovin syndrome skos:closeMatch Orphanet:228116 Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016425 LEXMATCH -MONDO:0016425 Hughes-Stovin syndrome skos:closeMatch Orphanet:228116 Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016425 LEXMATCH -MONDO:0016425 Hughes-Stovin syndrome skos:closeMatch Orphanet:228116 Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228116 LEXMATCH -MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051919 LEXMATCH -MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228119 LEXMATCH -MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20570 LEXMATCH -MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016426 LEXMATCH -MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016426 LEXMATCH -MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228119 LEXMATCH -MONDO:0016429 Marburg acute multiple sclerosis skos:closeMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228157 LEXMATCH -MONDO:0016429 Marburg acute multiple sclerosis skos:closeMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20572 LEXMATCH -MONDO:0016429 Marburg acute multiple sclerosis skos:closeMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016429 LEXMATCH -MONDO:0016429 Marburg acute multiple sclerosis skos:closeMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016429 LEXMATCH -MONDO:0016429 Marburg acute multiple sclerosis skos:closeMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228157 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010252 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228165 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5885 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baló concentric sclerosis LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016430 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016430 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228165 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 LEXMATCH -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228179 LEXMATCH -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17147 LEXMATCH -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016431 LEXMATCH -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016431 LEXMATCH -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228179 LEXMATCH -MONDO:0016432 heart-hand syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228184 LEXMATCH -MONDO:0016432 heart-hand syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20573 LEXMATCH -MONDO:0016432 heart-hand syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016432 LEXMATCH -MONDO:0016432 heart-hand syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016432 LEXMATCH -MONDO:0016432 heart-hand syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228184 LEXMATCH -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:closeMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2282 LEXMATCH -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:closeMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18764 LEXMATCH -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:closeMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016433 LEXMATCH -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:closeMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016433 LEXMATCH -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:closeMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2282 LEXMATCH -MONDO:0016437 late-onset focal dermal elastosis skos:closeMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228227 LEXMATCH -MONDO:0016437 late-onset focal dermal elastosis skos:closeMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20578 LEXMATCH -MONDO:0016437 late-onset focal dermal elastosis skos:closeMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016437 LEXMATCH -MONDO:0016437 late-onset focal dermal elastosis skos:closeMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016437 LEXMATCH -MONDO:0016437 late-onset focal dermal elastosis skos:closeMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228227 LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228236 LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20579 LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear focal elastosis LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016438 LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016438 LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228236 LEXMATCH -MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406555 LEXMATCH -MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228240 LEXMATCH -MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12716 LEXMATCH -MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016439 LEXMATCH -MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016439 LEXMATCH -MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228240 LEXMATCH -MONDO:0016440 elastofibroma dorsi skos:closeMatch Orphanet:228243 Elastofibroma dorsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228243 LEXMATCH -MONDO:0016440 elastofibroma dorsi skos:closeMatch Orphanet:228243 Elastofibroma dorsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20580 LEXMATCH -MONDO:0016440 elastofibroma dorsi skos:closeMatch Orphanet:228243 Elastofibroma dorsi semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016440 LEXMATCH -MONDO:0016440 elastofibroma dorsi skos:closeMatch Orphanet:228243 Elastofibroma dorsi semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016440 LEXMATCH -MONDO:0016440 elastofibroma dorsi skos:closeMatch Orphanet:228243 Elastofibroma dorsi semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228243 LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274759 LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228247 LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20581 LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016441 LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016441 LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228247 LEXMATCH -MONDO:0016442 elastoma skos:closeMatch Orphanet:228254 Elastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228254 LEXMATCH -MONDO:0016442 elastoma skos:closeMatch Orphanet:228254 Elastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20582 LEXMATCH -MONDO:0016442 elastoma skos:closeMatch Orphanet:228254 Elastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016442 LEXMATCH -MONDO:0016442 elastoma skos:closeMatch Orphanet:228254 Elastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016442 LEXMATCH -MONDO:0016442 elastoma skos:closeMatch Orphanet:228254 Elastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228254 LEXMATCH -MONDO:0016443 papular elastorrhexis skos:closeMatch Orphanet:228264 Papular elastorrhexis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228264 LEXMATCH -MONDO:0016443 papular elastorrhexis skos:closeMatch Orphanet:228264 Papular elastorrhexis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20583 LEXMATCH -MONDO:0016443 papular elastorrhexis skos:closeMatch Orphanet:228264 Papular elastorrhexis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016443 LEXMATCH -MONDO:0016443 papular elastorrhexis skos:closeMatch Orphanet:228264 Papular elastorrhexis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016443 LEXMATCH -MONDO:0016443 papular elastorrhexis skos:closeMatch Orphanet:228264 Papular elastorrhexis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228264 LEXMATCH -MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406550 LEXMATCH -MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228272 LEXMATCH -MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20584 LEXMATCH -MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016444 LEXMATCH -MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016444 LEXMATCH -MONDO:0016444 primary anetoderma skos:closeMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228272 LEXMATCH -MONDO:0016445 familial anetoderma skos:closeMatch Orphanet:228277 Familial anetoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228277 LEXMATCH -MONDO:0016445 familial anetoderma skos:closeMatch Orphanet:228277 Familial anetoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20585 LEXMATCH -MONDO:0016445 familial anetoderma skos:closeMatch Orphanet:228277 Familial anetoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016445 LEXMATCH -MONDO:0016445 familial anetoderma skos:closeMatch Orphanet:228277 Familial anetoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016445 LEXMATCH -MONDO:0016445 familial anetoderma skos:closeMatch Orphanet:228277 Familial anetoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228277 LEXMATCH -MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406549 LEXMATCH -MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228285 LEXMATCH -MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20586 LEXMATCH -MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016446 LEXMATCH -MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016446 LEXMATCH -MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228285 LEXMATCH -MONDO:0016447 white fibrous papulosis of the neck skos:closeMatch Orphanet:228290 White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228290 LEXMATCH -MONDO:0016447 white fibrous papulosis of the neck skos:closeMatch Orphanet:228290 White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20587 LEXMATCH -MONDO:0016447 white fibrous papulosis of the neck skos:closeMatch Orphanet:228290 White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016447 LEXMATCH -MONDO:0016447 white fibrous papulosis of the neck skos:closeMatch Orphanet:228290 White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016447 LEXMATCH -MONDO:0016447 white fibrous papulosis of the neck skos:closeMatch Orphanet:228290 White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228290 LEXMATCH -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:closeMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228293 LEXMATCH -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:closeMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20588 LEXMATCH -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:closeMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016448 LEXMATCH -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:closeMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016448 LEXMATCH -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:closeMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228293 LEXMATCH -MONDO:0016449 mid-dermal elastolysis skos:closeMatch Orphanet:228299 Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228299 LEXMATCH -MONDO:0016449 mid-dermal elastolysis skos:closeMatch Orphanet:228299 Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20589 LEXMATCH -MONDO:0016449 mid-dermal elastolysis skos:closeMatch Orphanet:228299 Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016449 LEXMATCH -MONDO:0016449 mid-dermal elastolysis skos:closeMatch Orphanet:228299 Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016449 LEXMATCH -MONDO:0016449 mid-dermal elastolysis skos:closeMatch Orphanet:228299 Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228299 LEXMATCH -MONDO:0016450 autoimmune hemolytic anemia, cold type skos:closeMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228312 LEXMATCH -MONDO:0016450 autoimmune hemolytic anemia, cold type skos:closeMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20590 LEXMATCH -MONDO:0016450 autoimmune hemolytic anemia, cold type skos:closeMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016450 LEXMATCH -MONDO:0016450 autoimmune hemolytic anemia, cold type skos:closeMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016450 LEXMATCH -MONDO:0016450 autoimmune hemolytic anemia, cold type skos:closeMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228312 LEXMATCH -MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739094 LEXMATCH -MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228371 LEXMATCH -MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20591 LEXMATCH -MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016453 LEXMATCH -MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016453 LEXMATCH -MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228371 LEXMATCH -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228374 LEXMATCH -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17153 LEXMATCH -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016454 LEXMATCH -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016454 LEXMATCH -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228374 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267126 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228379 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20592 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016455 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016455 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228379 LEXMATCH -MONDO:0016456 5q14.3 microdeletion syndrome skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228384 LEXMATCH -MONDO:0016456 5q14.3 microdeletion syndrome skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12166 LEXMATCH -MONDO:0016456 5q14.3 microdeletion syndrome skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016456 LEXMATCH -MONDO:0016456 5q14.3 microdeletion syndrome skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016456 LEXMATCH -MONDO:0016456 5q14.3 microdeletion syndrome skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228384 LEXMATCH -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:closeMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228396 LEXMATCH -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:closeMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20593 LEXMATCH -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:closeMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016457 LEXMATCH -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:closeMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016457 LEXMATCH -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:closeMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228396 LEXMATCH -MONDO:0016458 8q12 microduplication syndrome skos:closeMatch Orphanet:228399 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228399 LEXMATCH -MONDO:0016458 8q12 microduplication syndrome skos:closeMatch Orphanet:228399 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12816 LEXMATCH -MONDO:0016458 8q12 microduplication syndrome skos:closeMatch Orphanet:228399 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016458 LEXMATCH -MONDO:0016458 8q12 microduplication syndrome skos:closeMatch Orphanet:228399 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016458 LEXMATCH -MONDO:0016458 8q12 microduplication syndrome skos:closeMatch Orphanet:228399 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228399 LEXMATCH -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228402 LEXMATCH -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10998 LEXMATCH -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016459 LEXMATCH -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016459 LEXMATCH -MONDO:0016459 2q23.1 microdeletion syndrome skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228402 LEXMATCH -MONDO:0016460 polyvalvular heart disease syndrome skos:closeMatch Orphanet:228410 Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228410 LEXMATCH -MONDO:0016460 polyvalvular heart disease syndrome skos:closeMatch Orphanet:228410 Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20594 LEXMATCH -MONDO:0016460 polyvalvular heart disease syndrome skos:closeMatch Orphanet:228410 Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016460 LEXMATCH -MONDO:0016460 polyvalvular heart disease syndrome skos:closeMatch Orphanet:228410 Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016460 LEXMATCH -MONDO:0016460 polyvalvular heart disease syndrome skos:closeMatch Orphanet:228410 Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228410 LEXMATCH -MONDO:0016461 5q35 microduplication syndrome skos:closeMatch Orphanet:228415 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228415 LEXMATCH -MONDO:0016461 5q35 microduplication syndrome skos:closeMatch Orphanet:228415 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20595 LEXMATCH -MONDO:0016461 5q35 microduplication syndrome skos:closeMatch Orphanet:228415 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016461 LEXMATCH -MONDO:0016461 5q35 microduplication syndrome skos:closeMatch Orphanet:228415 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016461 LEXMATCH -MONDO:0016461 5q35 microduplication syndrome skos:closeMatch Orphanet:228415 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228415 LEXMATCH -MONDO:0016462 isolated agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:229717 LEXMATCH -MONDO:0016462 isolated agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17155 LEXMATCH -MONDO:0016462 isolated agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016462 LEXMATCH -MONDO:0016462 isolated agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016462 LEXMATCH -MONDO:0016462 isolated agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:229717 LEXMATCH -MONDO:0016463 syndromic agammaglobulinemia skos:closeMatch Orphanet:229720 Syndromic agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20596 LEXMATCH -MONDO:0016463 syndromic agammaglobulinemia skos:closeMatch Orphanet:229720 Syndromic agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016463 LEXMATCH -MONDO:0016463 syndromic agammaglobulinemia skos:closeMatch Orphanet:229720 Syndromic agammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016463 LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342337 LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2298 LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3009 LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016464 LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016464 LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2298 LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003949 LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2302 LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5852 LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asbestos intoxication LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016466 LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016466 LEXMATCH -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2302 LEXMATCH -MONDO:0016467 isotretinoin syndrome skos:closeMatch Orphanet:2305 Isotretinoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2305 LEXMATCH -MONDO:0016467 isotretinoin syndrome skos:closeMatch Orphanet:2305 Isotretinoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18765 LEXMATCH -MONDO:0016467 isotretinoin syndrome skos:closeMatch Orphanet:2305 Isotretinoin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016467 LEXMATCH -MONDO:0016467 isotretinoin syndrome skos:closeMatch Orphanet:2305 Isotretinoin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016467 LEXMATCH -MONDO:0016467 isotretinoin syndrome skos:closeMatch Orphanet:2305 Isotretinoin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2305 LEXMATCH -MONDO:0016468 toxin-mediated infectious botulism skos:closeMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:230800 LEXMATCH -MONDO:0016468 toxin-mediated infectious botulism skos:closeMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20597 LEXMATCH -MONDO:0016468 toxin-mediated infectious botulism skos:closeMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016468 LEXMATCH -MONDO:0016468 toxin-mediated infectious botulism skos:closeMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016468 LEXMATCH -MONDO:0016468 toxin-mediated infectious botulism skos:closeMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:230800 LEXMATCH -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:230857 LEXMATCH -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17156 LEXMATCH -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016470 LEXMATCH -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016470 LEXMATCH -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:230857 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265334 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2309 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10753 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016471 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016471 LEXMATCH -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2309 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013618 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013100 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6286 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016472 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016472 LEXMATCH -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231 LEXMATCH -MONDO:0016473 familial rhabdoid tumor skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231108 LEXMATCH -MONDO:0016473 familial rhabdoid tumor skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17159 LEXMATCH -MONDO:0016473 familial rhabdoid tumor skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016473 LEXMATCH -MONDO:0016473 familial rhabdoid tumor skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016473 LEXMATCH -MONDO:0016473 familial rhabdoid tumor skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231108 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013706 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263591 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231111 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20599 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016474 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016474 LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231111 LEXMATCH -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:closeMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231117 LEXMATCH -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:closeMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20600 LEXMATCH -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:closeMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016475 LEXMATCH -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:closeMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016475 LEXMATCH -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:closeMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231117 LEXMATCH -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231120 LEXMATCH -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17160 LEXMATCH -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016476 LEXMATCH -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016476 LEXMATCH -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231120 LEXMATCH -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:closeMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231127 LEXMATCH -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:closeMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20601 LEXMATCH -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:closeMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016477 LEXMATCH -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:closeMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016477 LEXMATCH -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:closeMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231127 LEXMATCH -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:closeMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231130 LEXMATCH -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:closeMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20602 LEXMATCH -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:closeMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016478 LEXMATCH -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:closeMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016478 LEXMATCH -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:closeMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231130 LEXMATCH -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:closeMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231137 LEXMATCH -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:closeMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20603 LEXMATCH -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:closeMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016479 LEXMATCH -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:closeMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016479 LEXMATCH -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:closeMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231137 LEXMATCH -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:closeMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231140 LEXMATCH -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:closeMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20604 LEXMATCH -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:closeMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016480 LEXMATCH -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:closeMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016480 LEXMATCH -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:closeMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231140 LEXMATCH -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:closeMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231144 LEXMATCH -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:closeMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20605 LEXMATCH -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:closeMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016481 LEXMATCH -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:closeMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016481 LEXMATCH -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:closeMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231144 LEXMATCH -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231147 LEXMATCH -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20606 LEXMATCH -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016482 LEXMATCH -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016482 LEXMATCH -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231147 LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231160 LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17161 LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cerebral saccular aneurysm LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016483 LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016483 LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231160 LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339534 LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231178 LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5440 LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016484 LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016484 LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231178 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231183 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5442 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016485 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016485 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231183 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231214 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17162 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016486 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016486 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231214 LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062923 LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231222 LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17163 LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016487 LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016487 LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231222 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012236 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231237 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17165 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016489 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016489 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231237 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:closeMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231242 LEXMATCH -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:closeMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20608 LEXMATCH -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:closeMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016490 LEXMATCH -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:closeMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016490 LEXMATCH -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:closeMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231242 LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472777 LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231249 LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20609 LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016491 LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016491 LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:closeMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231249 LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231426 LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20614 LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pharyngeal-cervical-brachial variant of guillain-barré syndrome LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016496 LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016496 LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231426 LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231445 LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20615 LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraparetic variant of guillain-barré syndrome LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016497 LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016497 LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231445 LEXMATCH -MONDO:0016498 acute pure sensory neuropathy skos:closeMatch Orphanet:231450 Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231450 LEXMATCH -MONDO:0016498 acute pure sensory neuropathy skos:closeMatch Orphanet:231450 Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20616 LEXMATCH -MONDO:0016498 acute pure sensory neuropathy skos:closeMatch Orphanet:231450 Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016498 LEXMATCH -MONDO:0016498 acute pure sensory neuropathy skos:closeMatch Orphanet:231450 Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016498 LEXMATCH -MONDO:0016498 acute pure sensory neuropathy skos:closeMatch Orphanet:231450 Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231450 LEXMATCH -MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315246 LEXMATCH -MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231457 LEXMATCH -MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20617 LEXMATCH -MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016499 LEXMATCH -MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016499 LEXMATCH -MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231457 LEXMATCH -MONDO:0016500 acute sensory ataxic neuropathy skos:closeMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231466 LEXMATCH -MONDO:0016500 acute sensory ataxic neuropathy skos:closeMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20618 LEXMATCH -MONDO:0016500 acute sensory ataxic neuropathy skos:closeMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016500 LEXMATCH -MONDO:0016500 acute sensory ataxic neuropathy skos:closeMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016500 LEXMATCH -MONDO:0016500 acute sensory ataxic neuropathy skos:closeMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231466 LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231500 LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17168 LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016501 LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016501 LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231500 LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231512 LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17169 LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016502 LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016502 LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231512 LEXMATCH -MONDO:0016503 congenital erosive and vesicular dermatosis skos:closeMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231573 LEXMATCH -MONDO:0016503 congenital erosive and vesicular dermatosis skos:closeMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20619 LEXMATCH -MONDO:0016503 congenital erosive and vesicular dermatosis skos:closeMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016503 LEXMATCH -MONDO:0016503 congenital erosive and vesicular dermatosis skos:closeMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016503 LEXMATCH -MONDO:0016503 congenital erosive and vesicular dermatosis skos:closeMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231573 LEXMATCH -MONDO:0016504 primary unilateral adrenal hyperplasia skos:closeMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231580 LEXMATCH -MONDO:0016504 primary unilateral adrenal hyperplasia skos:closeMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20620 LEXMATCH -MONDO:0016504 primary unilateral adrenal hyperplasia skos:closeMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016504 LEXMATCH -MONDO:0016504 primary unilateral adrenal hyperplasia skos:closeMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016504 LEXMATCH -MONDO:0016504 primary unilateral adrenal hyperplasia skos:closeMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231580 LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20621 LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenocortical carcinoma with pure aldosterone hypersecretion LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016505 LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016505 LEXMATCH -MONDO:0016506 ectopic aldosterone-producing tumor skos:closeMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231632 LEXMATCH -MONDO:0016506 ectopic aldosterone-producing tumor skos:closeMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20622 LEXMATCH -MONDO:0016506 ectopic aldosterone-producing tumor skos:closeMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016506 LEXMATCH -MONDO:0016506 ectopic aldosterone-producing tumor skos:closeMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016506 LEXMATCH -MONDO:0016506 ectopic aldosterone-producing tumor skos:closeMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231632 LEXMATCH -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:closeMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231736 LEXMATCH -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:closeMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10938 LEXMATCH -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:closeMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016509 LEXMATCH -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:closeMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016509 LEXMATCH -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:closeMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231736 LEXMATCH -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:closeMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:231742 LEXMATCH -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:closeMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20625 LEXMATCH -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:closeMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016510 LEXMATCH -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:closeMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016510 LEXMATCH -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:closeMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:231742 LEXMATCH -MONDO:0016511 infectious embryofetopathy skos:closeMatch Orphanet:232035 Infectious embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:232035 LEXMATCH -MONDO:0016511 infectious embryofetopathy skos:closeMatch Orphanet:232035 Infectious embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20626 LEXMATCH -MONDO:0016511 infectious embryofetopathy skos:closeMatch Orphanet:232035 Infectious embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016511 LEXMATCH -MONDO:0016511 infectious embryofetopathy skos:closeMatch Orphanet:232035 Infectious embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016511 LEXMATCH -MONDO:0016511 infectious embryofetopathy skos:closeMatch Orphanet:232035 Infectious embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:232035 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063935 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796004 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2322 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6810 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016512 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016512 LEXMATCH -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2322 LEXMATCH -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:closeMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2325 LEXMATCH -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:closeMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18766 LEXMATCH -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:closeMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016514 LEXMATCH -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:closeMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016514 LEXMATCH -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:closeMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2325 LEXMATCH -MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:closeMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2326 LEXMATCH -MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:closeMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18767 LEXMATCH -MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:closeMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016515 LEXMATCH -MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:closeMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016515 LEXMATCH -MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:closeMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2326 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265291 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2333 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16594 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016516 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016516 LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2333 LEXMATCH -MONDO:0016520 isolated Klippel-Feil syndrome skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2345 LEXMATCH -MONDO:0016520 isolated Klippel-Feil syndrome skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10280 LEXMATCH -MONDO:0016520 isolated Klippel-Feil syndrome skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016520 LEXMATCH -MONDO:0016520 isolated Klippel-Feil syndrome skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016520 LEXMATCH -MONDO:0016520 isolated Klippel-Feil syndrome skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2345 LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2349 LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8270 LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016521 LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016521 LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2349 LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome LEXMATCH -MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931444 LEXMATCH -MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2351 LEXMATCH -MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4752 LEXMATCH -MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016522 LEXMATCH -MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016522 LEXMATCH -MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2351 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064585 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2357 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1025 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016523 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016523 LEXMATCH -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2357 LEXMATCH -MONDO:0016524 congenital vascular bone syndrome skos:closeMatch Orphanet:235832 Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:235832 LEXMATCH -MONDO:0016524 congenital vascular bone syndrome skos:closeMatch Orphanet:235832 Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20629 LEXMATCH -MONDO:0016524 congenital vascular bone syndrome skos:closeMatch Orphanet:235832 Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016524 LEXMATCH -MONDO:0016524 congenital vascular bone syndrome skos:closeMatch Orphanet:235832 Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016524 LEXMATCH -MONDO:0016524 congenital vascular bone syndrome skos:closeMatch Orphanet:235832 Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:235832 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3713420 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:235936 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20630 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016525 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016525 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:235936 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:371861 Genetic hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21617 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:371861 Genetic hyperaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016525 LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:371861 Genetic hyperaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016525 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265428 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:236 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18683 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016526 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016526 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:236 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20866 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016526 LEXMATCH -MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016526 LEXMATCH -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2364 LEXMATCH -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3159 LEXMATCH -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016527 LEXMATCH -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016527 LEXMATCH -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2364 LEXMATCH -MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2369 LEXMATCH -MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3251 LEXMATCH -MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body stalk anomaly LEXMATCH -MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016528 LEXMATCH -MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016528 LEXMATCH -MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2369 LEXMATCH -MONDO:0016529 duplication of urethra skos:closeMatch Orphanet:237 Duplication of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:237 LEXMATCH -MONDO:0016529 duplication of urethra skos:closeMatch Orphanet:237 Duplication of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1975 LEXMATCH -MONDO:0016529 duplication of urethra skos:closeMatch Orphanet:237 Duplication of urethra semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016529 LEXMATCH -MONDO:0016529 duplication of urethra skos:closeMatch Orphanet:237 Duplication of urethra semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016529 LEXMATCH -MONDO:0016529 duplication of urethra skos:closeMatch Orphanet:237 Duplication of urethra semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:237 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023885 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265761 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2372 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3191 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016530 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016530 LEXMATCH -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2372 LEXMATCH -MONDO:0016531 digestive duplication skos:closeMatch Orphanet:238 Digestive duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238 LEXMATCH -MONDO:0016531 digestive duplication skos:closeMatch Orphanet:238 Digestive duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18684 LEXMATCH -MONDO:0016531 digestive duplication skos:closeMatch Orphanet:238 Digestive duplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016531 LEXMATCH -MONDO:0016531 digestive duplication skos:closeMatch Orphanet:238 Digestive duplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016531 LEXMATCH -MONDO:0016531 digestive duplication skos:closeMatch Orphanet:238 Digestive duplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048816 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238111 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2382 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9912 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016532 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016532 LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2382 LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:closeMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238269 LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:closeMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20631 LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:closeMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016533 LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:closeMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016533 LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:closeMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238269 LEXMATCH -MONDO:0016534 infundibulo-neurohypophysitis skos:closeMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238305 LEXMATCH -MONDO:0016534 infundibulo-neurohypophysitis skos:closeMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20632 LEXMATCH -MONDO:0016534 infundibulo-neurohypophysitis skos:closeMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016534 LEXMATCH -MONDO:0016534 infundibulo-neurohypophysitis skos:closeMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016534 LEXMATCH -MONDO:0016534 infundibulo-neurohypophysitis skos:closeMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238305 LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238468 LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:76 LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016535 LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016535 LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238468 LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:238510 Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238510 LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:238510 Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20633 LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:238510 Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016537 LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:238510 Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016537 LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:238510 Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238510 LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 LEXMATCH -MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238523 LEXMATCH -MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17175 LEXMATCH -MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016539 LEXMATCH -MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016539 LEXMATCH -MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238523 LEXMATCH -MONDO:0016540 congenital secondary polycythemia skos:closeMatch Orphanet:238536 Congenital secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20635 LEXMATCH -MONDO:0016540 congenital secondary polycythemia skos:closeMatch Orphanet:238536 Congenital secondary polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016540 LEXMATCH -MONDO:0016540 congenital secondary polycythemia skos:closeMatch Orphanet:238536 Congenital secondary polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016540 LEXMATCH -MONDO:0016541 acquired secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238547 LEXMATCH -MONDO:0016541 acquired secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20636 LEXMATCH -MONDO:0016541 acquired secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016541 LEXMATCH -MONDO:0016541 acquired secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016541 LEXMATCH -MONDO:0016541 acquired secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238547 LEXMATCH -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238569 LEXMATCH -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13016 LEXMATCH -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016542 LEXMATCH -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016542 LEXMATCH -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238569 LEXMATCH -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238583 LEXMATCH -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7751 LEXMATCH -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016543 LEXMATCH -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016543 LEXMATCH -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238583 LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:closeMatch Orphanet:238593 IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238593 LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:closeMatch Orphanet:238593 IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8169 LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:closeMatch Orphanet:238593 IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016544 LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:closeMatch Orphanet:238593 IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016544 LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:closeMatch Orphanet:238593 IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238593 LEXMATCH -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2386 LEXMATCH -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3232 LEXMATCH -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016545 LEXMATCH -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016545 LEXMATCH -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2386 LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536418 LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238606 LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8563 LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016546 LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016546 LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238606 LEXMATCH -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238613 LEXMATCH -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17178 LEXMATCH -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016547 LEXMATCH -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016547 LEXMATCH -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238613 LEXMATCH -MONDO:0016548 megacystis-megaureter syndrome skos:closeMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238637 LEXMATCH -MONDO:0016548 megacystis-megaureter syndrome skos:closeMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20638 LEXMATCH -MONDO:0016548 megacystis-megaureter syndrome skos:closeMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016548 LEXMATCH -MONDO:0016548 megacystis-megaureter syndrome skos:closeMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016548 LEXMATCH -MONDO:0016548 megacystis-megaureter syndrome skos:closeMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238637 LEXMATCH -MONDO:0016549 primary megaureter, adult-onset form skos:closeMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238642 LEXMATCH -MONDO:0016549 primary megaureter, adult-onset form skos:closeMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20639 LEXMATCH -MONDO:0016549 primary megaureter, adult-onset form skos:closeMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016549 LEXMATCH -MONDO:0016549 primary megaureter, adult-onset form skos:closeMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016549 LEXMATCH -MONDO:0016549 primary megaureter, adult-onset form skos:closeMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238642 LEXMATCH -MONDO:0016550 congenital primary megaureter, obstructed form skos:closeMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238646 LEXMATCH -MONDO:0016550 congenital primary megaureter, obstructed form skos:closeMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20640 LEXMATCH -MONDO:0016550 congenital primary megaureter, obstructed form skos:closeMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016550 LEXMATCH -MONDO:0016550 congenital primary megaureter, obstructed form skos:closeMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016550 LEXMATCH -MONDO:0016550 congenital primary megaureter, obstructed form skos:closeMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238646 LEXMATCH -MONDO:0016551 congenital primary megaureter, refluxing form skos:closeMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238650 LEXMATCH -MONDO:0016551 congenital primary megaureter, refluxing form skos:closeMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20641 LEXMATCH -MONDO:0016551 congenital primary megaureter, refluxing form skos:closeMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016551 LEXMATCH -MONDO:0016551 congenital primary megaureter, refluxing form skos:closeMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016551 LEXMATCH -MONDO:0016551 congenital primary megaureter, refluxing form skos:closeMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238650 LEXMATCH -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:closeMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238654 LEXMATCH -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:closeMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20642 LEXMATCH -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:closeMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016552 LEXMATCH -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:closeMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016552 LEXMATCH -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:closeMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238654 LEXMATCH -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238666 LEXMATCH -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20643 LEXMATCH -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016553 LEXMATCH -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016553 LEXMATCH -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238666 LEXMATCH -MONDO:0016554 neonatal iodine exposure skos:closeMatch Orphanet:238688 Neonatal iodine exposure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238688 LEXMATCH -MONDO:0016554 neonatal iodine exposure skos:closeMatch Orphanet:238688 Neonatal iodine exposure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20644 LEXMATCH -MONDO:0016554 neonatal iodine exposure skos:closeMatch Orphanet:238688 Neonatal iodine exposure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016554 LEXMATCH -MONDO:0016554 neonatal iodine exposure skos:closeMatch Orphanet:238688 Neonatal iodine exposure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016554 LEXMATCH -MONDO:0016554 neonatal iodine exposure skos:closeMatch Orphanet:238688 Neonatal iodine exposure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238688 LEXMATCH -MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:closeMatch Orphanet:238696 Transient congenital hypothyroidism due to maternal factor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20645 LEXMATCH -MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:closeMatch Orphanet:238696 Transient congenital hypothyroidism due to maternal factor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016555 LEXMATCH -MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:closeMatch Orphanet:238696 Transient congenital hypothyroidism due to maternal factor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016555 LEXMATCH -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:closeMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238699 LEXMATCH -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:closeMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20646 LEXMATCH -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:closeMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016556 LEXMATCH -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:closeMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016556 LEXMATCH -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:closeMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238699 LEXMATCH -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 LEXMATCH -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2387 LEXMATCH -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9759 LEXMATCH -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016557 LEXMATCH -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016557 LEXMATCH -MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2387 LEXMATCH -MONDO:0016558 familial congenital mirror movements skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238722 LEXMATCH -MONDO:0016558 familial congenital mirror movements skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12551 LEXMATCH -MONDO:0016558 familial congenital mirror movements skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016558 LEXMATCH -MONDO:0016558 familial congenital mirror movements skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016558 LEXMATCH -MONDO:0016558 familial congenital mirror movements skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238722 LEXMATCH -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238763 LEXMATCH -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10942 LEXMATCH -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016559 LEXMATCH -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016559 LEXMATCH -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238763 LEXMATCH -MONDO:0016561 1q44 microdeletion syndrome skos:closeMatch Orphanet:238769 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238769 LEXMATCH -MONDO:0016561 1q44 microdeletion syndrome skos:closeMatch Orphanet:238769 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10943 LEXMATCH -MONDO:0016561 1q44 microdeletion syndrome skos:closeMatch Orphanet:238769 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016561 LEXMATCH -MONDO:0016561 1q44 microdeletion syndrome skos:closeMatch Orphanet:238769 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016561 LEXMATCH -MONDO:0016561 1q44 microdeletion syndrome skos:closeMatch Orphanet:238769 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238769 LEXMATCH -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:closeMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240094 LEXMATCH -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:closeMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20647 LEXMATCH -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:closeMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016562 LEXMATCH -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:closeMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016562 LEXMATCH -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:closeMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240094 LEXMATCH -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:closeMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240103 LEXMATCH -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:closeMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20648 LEXMATCH -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:closeMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016563 LEXMATCH -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:closeMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016563 LEXMATCH -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:closeMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240103 LEXMATCH -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:closeMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:240112 LEXMATCH -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:closeMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20649 LEXMATCH -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:closeMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016564 LEXMATCH -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:closeMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016564 LEXMATCH -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:closeMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:240112 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024797 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2404 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3283 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016566 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016566 LEXMATCH -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2404 LEXMATCH -MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024792 LEXMATCH -MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2406 LEXMATCH -MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6919 LEXMATCH -MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016567 LEXMATCH -MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016567 LEXMATCH -MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2406 LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931080 LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2408 LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1695 LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016568 LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016568 LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2408 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037418 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2420 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18770 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016570 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016570 LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2420 LEXMATCH -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:closeMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2427 LEXMATCH -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:closeMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:172 LEXMATCH -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:closeMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016571 LEXMATCH -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:closeMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016571 LEXMATCH -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:closeMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2427 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000746 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1455728 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:243367 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9578 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016573 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016573 LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:243367 LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835172 LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2435 LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3347 LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016574 LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016574 LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2435 LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069713 LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:244 LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4484 LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016575 LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016575 LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:244 LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265554 LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2440 LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6319 LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated split hand-split foot malformation LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016576 LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016576 LEXMATCH -MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2440 LEXMATCH -MONDO:0016577 biliary atresia with splenic malformation syndrome skos:closeMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:244283 LEXMATCH -MONDO:0016577 biliary atresia with splenic malformation syndrome skos:closeMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20652 LEXMATCH -MONDO:0016577 biliary atresia with splenic malformation syndrome skos:closeMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016577 LEXMATCH -MONDO:0016577 biliary atresia with splenic malformation syndrome skos:closeMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016577 LEXMATCH -MONDO:0016577 biliary atresia with splenic malformation syndrome skos:closeMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:244283 LEXMATCH -MONDO:0016580 congenital pulmonary airway malformation skos:closeMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2444 LEXMATCH -MONDO:0016580 congenital pulmonary airway malformation skos:closeMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18772 LEXMATCH -MONDO:0016580 congenital pulmonary airway malformation skos:closeMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016580 LEXMATCH -MONDO:0016580 congenital pulmonary airway malformation skos:closeMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016580 LEXMATCH -MONDO:0016580 congenital pulmonary airway malformation skos:closeMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2444 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857586 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2445 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8189 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016581 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016581 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217095 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2445 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217095 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:217095 LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome LEXMATCH -MONDO:0016582 congenital mitral malformation skos:closeMatch Orphanet:2447 Congenital mitral malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1495 LEXMATCH -MONDO:0016582 congenital mitral malformation skos:closeMatch Orphanet:2447 Congenital mitral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016582 LEXMATCH -MONDO:0016582 congenital mitral malformation skos:closeMatch Orphanet:2447 Congenital mitral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016582 LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2457 LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11893 LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016584 LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016584 LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2457 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042949 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221013 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2467 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8616 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016586 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016586 LEXMATCH -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2467 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349788 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5847 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016587 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016587 LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247 LEXMATCH -MONDO:0016588 infantile mercury poisoning skos:closeMatch Orphanet:247165 Infantile mercury poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247165 LEXMATCH -MONDO:0016588 infantile mercury poisoning skos:closeMatch Orphanet:247165 Infantile mercury poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20653 LEXMATCH -MONDO:0016588 infantile mercury poisoning skos:closeMatch Orphanet:247165 Infantile mercury poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016588 LEXMATCH -MONDO:0016588 infantile mercury poisoning skos:closeMatch Orphanet:247165 Infantile mercury poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016588 LEXMATCH -MONDO:0016588 infantile mercury poisoning skos:closeMatch Orphanet:247165 Infantile mercury poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247165 LEXMATCH -MONDO:0016589 progressive cerebello-cerebral atrophy skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247198 LEXMATCH -MONDO:0016589 progressive cerebello-cerebral atrophy skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17187 LEXMATCH -MONDO:0016589 progressive cerebello-cerebral atrophy skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016589 LEXMATCH -MONDO:0016589 progressive cerebello-cerebral atrophy skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016589 LEXMATCH -MONDO:0016589 progressive cerebello-cerebral atrophy skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247198 LEXMATCH -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:closeMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247234 LEXMATCH -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:closeMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20654 LEXMATCH -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:closeMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016591 LEXMATCH -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:closeMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016591 LEXMATCH -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:closeMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247234 LEXMATCH -MONDO:0016593 acquired ataxia skos:closeMatch Orphanet:247242 Acquired ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247242 LEXMATCH -MONDO:0016593 acquired ataxia skos:closeMatch Orphanet:247242 Acquired ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20656 LEXMATCH -MONDO:0016593 acquired ataxia skos:closeMatch Orphanet:247242 Acquired ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016593 LEXMATCH -MONDO:0016593 acquired ataxia skos:closeMatch Orphanet:247242 Acquired ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016593 LEXMATCH -MONDO:0016593 acquired ataxia skos:closeMatch Orphanet:247242 Acquired ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247242 LEXMATCH -MONDO:0016594 superficial siderosis skos:closeMatch Orphanet:247245 Superficial siderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247245 LEXMATCH -MONDO:0016594 superficial siderosis skos:closeMatch Orphanet:247245 Superficial siderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9484 LEXMATCH -MONDO:0016594 superficial siderosis skos:closeMatch Orphanet:247245 Superficial siderosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016594 LEXMATCH -MONDO:0016594 superficial siderosis skos:closeMatch Orphanet:247245 Superficial siderosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016594 LEXMATCH -MONDO:0016594 superficial siderosis skos:closeMatch Orphanet:247245 Superficial siderosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247245 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035667 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155866 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247257 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20657 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016595 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016595 LEXMATCH -MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247257 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855923 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247262 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17188 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016596 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016596 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247262 LEXMATCH -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:closeMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247378 LEXMATCH -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:closeMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20658 LEXMATCH -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:closeMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016598 LEXMATCH -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:closeMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016598 LEXMATCH -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:closeMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247378 LEXMATCH -MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247546 LEXMATCH -MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20659 LEXMATCH -MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016600 LEXMATCH -MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016600 LEXMATCH -MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247546 LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247573 LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20660 LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016601 LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016601 LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247573 LEXMATCH -MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997910 LEXMATCH -MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247582 LEXMATCH -MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20661 LEXMATCH -MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016602 LEXMATCH -MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016602 LEXMATCH -MONDO:0016602 citrin deficiency skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247582 LEXMATCH -MONDO:0016603 citrullinemia type II skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247585 LEXMATCH -MONDO:0016603 citrullinemia type II skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10215 LEXMATCH -MONDO:0016603 citrullinemia type II skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016603 LEXMATCH -MONDO:0016603 citrullinemia type II skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016603 LEXMATCH -MONDO:0016603 citrullinemia type II skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247585 LEXMATCH -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:closeMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2476 LEXMATCH -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:closeMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3438 LEXMATCH -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:closeMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016604 LEXMATCH -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:closeMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016604 LEXMATCH -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:closeMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2476 LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673477 LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247623 LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17191 LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016605 LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016605 LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:closeMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247623 LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840322 LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247685 LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17194 LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016607 LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016607 LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:closeMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247685 LEXMATCH -MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050183 LEXMATCH -MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2477 LEXMATCH -MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16601 LEXMATCH -MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016608 LEXMATCH -MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016608 LEXMATCH -MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2477 LEXMATCH -MONDO:0016609 inflammatory myopathy with abundant macrophages skos:closeMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247718 LEXMATCH -MONDO:0016609 inflammatory myopathy with abundant macrophages skos:closeMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20663 LEXMATCH -MONDO:0016609 inflammatory myopathy with abundant macrophages skos:closeMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016609 LEXMATCH -MONDO:0016609 inflammatory myopathy with abundant macrophages skos:closeMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016609 LEXMATCH -MONDO:0016609 inflammatory myopathy with abundant macrophages skos:closeMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247718 LEXMATCH -MONDO:0016610 idiopathic eosinophilic myositis skos:closeMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247724 LEXMATCH -MONDO:0016610 idiopathic eosinophilic myositis skos:closeMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20664 LEXMATCH -MONDO:0016610 idiopathic eosinophilic myositis skos:closeMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016610 LEXMATCH -MONDO:0016610 idiopathic eosinophilic myositis skos:closeMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016610 LEXMATCH -MONDO:0016610 idiopathic eosinophilic myositis skos:closeMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247724 LEXMATCH -MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260965 LEXMATCH -MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247762 LEXMATCH -MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12015 LEXMATCH -MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016611 LEXMATCH -MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016611 LEXMATCH -MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247762 LEXMATCH -MONDO:0016612 X-linked cerebellar ataxia skos:closeMatch Orphanet:247765 X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20665 LEXMATCH -MONDO:0016612 X-linked cerebellar ataxia skos:closeMatch Orphanet:247765 X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016612 LEXMATCH -MONDO:0016612 X-linked cerebellar ataxia skos:closeMatch Orphanet:247765 X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016612 LEXMATCH -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247806 LEXMATCH -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17197 LEXMATCH -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016613 LEXMATCH -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016613 LEXMATCH -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247806 LEXMATCH -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:closeMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247815 LEXMATCH -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:closeMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20666 LEXMATCH -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:closeMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016614 LEXMATCH -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:closeMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016614 LEXMATCH -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:closeMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:247815 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:248 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2057 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016619 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016619 LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:248 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029411 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:248095 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20667 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016620 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016620 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:248095 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051686 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2796 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7299 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016620 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016620 LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2796 LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751208 LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:248111 LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10510 LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016621 LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016621 LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:248111 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537238 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931453 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2482 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3462 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016622 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016622 LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2482 LEXMATCH -MONDO:0016624 inherited deficiency anemia skos:closeMatch Orphanet:248296 Constitutional deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20669 LEXMATCH -MONDO:0016624 inherited deficiency anemia skos:closeMatch Orphanet:248296 Constitutional deficiency anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016624 LEXMATCH -MONDO:0016624 inherited deficiency anemia skos:closeMatch Orphanet:248296 Constitutional deficiency anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016624 LEXMATCH -MONDO:0016625 acquired deficiency anemia skos:closeMatch Orphanet:248302 Rare acquired deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20670 LEXMATCH -MONDO:0016625 acquired deficiency anemia skos:closeMatch Orphanet:248302 Rare acquired deficiency anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016625 LEXMATCH -MONDO:0016625 acquired deficiency anemia skos:closeMatch Orphanet:248302 Rare acquired deficiency anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016625 LEXMATCH -MONDO:0016630 isolated delta-storage pool disease skos:closeMatch Orphanet:248340 Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:248340 LEXMATCH -MONDO:0016630 isolated delta-storage pool disease skos:closeMatch Orphanet:248340 Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20674 LEXMATCH -MONDO:0016630 isolated delta-storage pool disease skos:closeMatch Orphanet:248340 Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016630 LEXMATCH -MONDO:0016630 isolated delta-storage pool disease skos:closeMatch Orphanet:248340 Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016630 LEXMATCH -MONDO:0016630 isolated delta-storage pool disease skos:closeMatch Orphanet:248340 Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:248340 LEXMATCH -MONDO:0016638 familial hypodysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:248408 LEXMATCH -MONDO:0016638 familial hypodysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17202 LEXMATCH -MONDO:0016638 familial hypodysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016638 LEXMATCH -MONDO:0016638 familial hypodysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016638 LEXMATCH -MONDO:0016638 familial hypodysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:248408 LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930962 LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2487 LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18773 LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower limb malformation-hypospadias syndrome LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016639 LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016639 LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2487 LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931047 LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2492 LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2622 LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016641 LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016641 LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2492 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027191 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2495 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7015 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016642 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016642 LEXMATCH -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2495 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2392 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016643 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016643 LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250 LEXMATCH -MONDO:0016644 logopenic progressive aphasia skos:closeMatch Orphanet:250831 Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250831 LEXMATCH -MONDO:0016644 logopenic progressive aphasia skos:closeMatch Orphanet:250831 Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10791 LEXMATCH -MONDO:0016644 logopenic progressive aphasia skos:closeMatch Orphanet:250831 Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016644 LEXMATCH -MONDO:0016644 logopenic progressive aphasia skos:closeMatch Orphanet:250831 Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016644 LEXMATCH -MONDO:0016644 logopenic progressive aphasia skos:closeMatch Orphanet:250831 Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250831 LEXMATCH -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:closeMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:250932 LEXMATCH -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:closeMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20686 LEXMATCH -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:closeMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016646 LEXMATCH -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:closeMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016646 LEXMATCH -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:closeMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:250932 LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028197 LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251 LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10756 LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016648 LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016648 LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251 LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2510 LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5534 LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016649 LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016649 LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2510 LEXMATCH -MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251004 LEXMATCH -MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20688 LEXMATCH -MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016650 LEXMATCH -MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016650 LEXMATCH -MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251004 LEXMATCH -MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251009 LEXMATCH -MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20689 LEXMATCH -MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016651 LEXMATCH -MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016651 LEXMATCH -MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:closeMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251009 LEXMATCH -MONDO:0016652 2q31.1 microdeletion syndrome skos:closeMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251014 LEXMATCH -MONDO:0016652 2q31.1 microdeletion syndrome skos:closeMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20690 LEXMATCH -MONDO:0016652 2q31.1 microdeletion syndrome skos:closeMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016652 LEXMATCH -MONDO:0016652 2q31.1 microdeletion syndrome skos:closeMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016652 LEXMATCH -MONDO:0016652 2q31.1 microdeletion syndrome skos:closeMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251014 LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251028 LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17204 LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016653 LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016653 LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251028 LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251043 LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10841 LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 5 LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 5 syndrome LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016654 LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016654 LEXMATCH -MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251043 LEXMATCH -MONDO:0016655 6p22 microdeletion syndrome skos:closeMatch Orphanet:251046 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251046 LEXMATCH -MONDO:0016655 6p22 microdeletion syndrome skos:closeMatch Orphanet:251046 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20691 LEXMATCH -MONDO:0016655 6p22 microdeletion syndrome skos:closeMatch Orphanet:251046 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016655 LEXMATCH -MONDO:0016655 6p22 microdeletion syndrome skos:closeMatch Orphanet:251046 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016655 LEXMATCH -MONDO:0016655 6p22 microdeletion syndrome skos:closeMatch Orphanet:251046 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251046 LEXMATCH -MONDO:0016656 7q31 microdeletion syndrome skos:closeMatch Orphanet:251061 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251061 LEXMATCH -MONDO:0016656 7q31 microdeletion syndrome skos:closeMatch Orphanet:251061 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20692 LEXMATCH -MONDO:0016656 7q31 microdeletion syndrome skos:closeMatch Orphanet:251061 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016656 LEXMATCH -MONDO:0016656 7q31 microdeletion syndrome skos:closeMatch Orphanet:251061 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016656 LEXMATCH -MONDO:0016656 7q31 microdeletion syndrome skos:closeMatch Orphanet:251061 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251061 LEXMATCH -MONDO:0016657 8p11.2 deletion syndrome skos:closeMatch Orphanet:251066 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251066 LEXMATCH -MONDO:0016657 8p11.2 deletion syndrome skos:closeMatch Orphanet:251066 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20693 LEXMATCH -MONDO:0016657 8p11.2 deletion syndrome skos:closeMatch Orphanet:251066 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016657 LEXMATCH -MONDO:0016657 8p11.2 deletion syndrome skos:closeMatch Orphanet:251066 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016657 LEXMATCH -MONDO:0016657 8p11.2 deletion syndrome skos:closeMatch Orphanet:251066 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251066 LEXMATCH -MONDO:0016658 8p23.1 microdeletion syndrome skos:closeMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251071 LEXMATCH -MONDO:0016658 8p23.1 microdeletion syndrome skos:closeMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3769 LEXMATCH -MONDO:0016658 8p23.1 microdeletion syndrome skos:closeMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016658 LEXMATCH -MONDO:0016658 8p23.1 microdeletion syndrome skos:closeMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016658 LEXMATCH -MONDO:0016658 8p23.1 microdeletion syndrome skos:closeMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251071 LEXMATCH -MONDO:0016659 8p23.1 duplication syndrome skos:closeMatch Orphanet:251076 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251076 LEXMATCH -MONDO:0016659 8p23.1 duplication syndrome skos:closeMatch Orphanet:251076 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10304 LEXMATCH -MONDO:0016659 8p23.1 duplication syndrome skos:closeMatch Orphanet:251076 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016659 LEXMATCH -MONDO:0016659 8p23.1 duplication syndrome skos:closeMatch Orphanet:251076 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016659 LEXMATCH -MONDO:0016659 8p23.1 duplication syndrome skos:closeMatch Orphanet:251076 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251076 LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711387 LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2512 LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12117 LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016660 LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016660 LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2512 LEXMATCH -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:closeMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251304 LEXMATCH -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:closeMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20694 LEXMATCH -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:closeMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016661 LEXMATCH -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:closeMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016661 LEXMATCH -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:closeMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251304 LEXMATCH -MONDO:0016662 idiopathic recurrent pericarditis skos:closeMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251307 LEXMATCH -MONDO:0016662 idiopathic recurrent pericarditis skos:closeMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20695 LEXMATCH -MONDO:0016662 idiopathic recurrent pericarditis skos:closeMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016662 LEXMATCH -MONDO:0016662 idiopathic recurrent pericarditis skos:closeMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016662 LEXMATCH -MONDO:0016662 idiopathic recurrent pericarditis skos:closeMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251307 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251312 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20696 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016663 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016663 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251312 LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 LEXMATCH -MONDO:0016664 drug-induced vasculitis skos:closeMatch Orphanet:251325 Drug-induced vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251325 LEXMATCH -MONDO:0016664 drug-induced vasculitis skos:closeMatch Orphanet:251325 Drug-induced vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20697 LEXMATCH -MONDO:0016664 drug-induced vasculitis skos:closeMatch Orphanet:251325 Drug-induced vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016664 LEXMATCH -MONDO:0016664 drug-induced vasculitis skos:closeMatch Orphanet:251325 Drug-induced vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016664 LEXMATCH -MONDO:0016664 drug-induced vasculitis skos:closeMatch Orphanet:251325 Drug-induced vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251325 LEXMATCH -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:closeMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251332 LEXMATCH -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:closeMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20699 LEXMATCH -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:closeMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016666 LEXMATCH -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:closeMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016666 LEXMATCH -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:closeMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251332 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040655 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055579 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251359 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10333 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016668 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016668 LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:closeMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251359 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057072 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251365 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6584 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016669 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016669 LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251365 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056724 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272084 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251370 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12458 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016670 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016670 LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251370 LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272085 LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251375 LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20700 LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016671 LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016671 LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251375 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251380 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18648 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016672 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016672 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251380 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:142470 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:613566 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:142470 LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:613566 LEXMATCH -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251393 LEXMATCH -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12923 LEXMATCH -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016673 LEXMATCH -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016673 LEXMATCH -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251393 LEXMATCH -MONDO:0016674 46,XY partial gonadal dysgenesis skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251510 LEXMATCH -MONDO:0016674 46,XY partial gonadal dysgenesis skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17211 LEXMATCH -MONDO:0016674 46,XY partial gonadal dysgenesis skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016674 LEXMATCH -MONDO:0016674 46,XY partial gonadal dysgenesis skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016674 LEXMATCH -MONDO:0016674 46,XY partial gonadal dysgenesis skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251510 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187370 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251515 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17212 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016675 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016675 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:187370 LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251515 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860229 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251523 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17213 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016676 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016676 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251523 LEXMATCH -MONDO:0016677 toxic or drug-related embryofetopathy skos:closeMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251529 LEXMATCH -MONDO:0016677 toxic or drug-related embryofetopathy skos:closeMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20701 LEXMATCH -MONDO:0016677 toxic or drug-related embryofetopathy skos:closeMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016677 LEXMATCH -MONDO:0016677 toxic or drug-related embryofetopathy skos:closeMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016677 LEXMATCH -MONDO:0016677 toxic or drug-related embryofetopathy skos:closeMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251529 LEXMATCH -MONDO:0016678 maternal disease-related embryofetopathy skos:closeMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20702 LEXMATCH -MONDO:0016678 maternal disease-related embryofetopathy skos:closeMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016678 LEXMATCH -MONDO:0016678 maternal disease-related embryofetopathy skos:closeMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016678 LEXMATCH -MONDO:0016680 high grade astrocytic tumor skos:closeMatch Orphanet:251561 High-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20704 LEXMATCH -MONDO:0016680 high grade astrocytic tumor skos:closeMatch Orphanet:251561 High-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label high-grade astrocytoma LEXMATCH -MONDO:0016680 high grade astrocytic tumor skos:closeMatch Orphanet:251561 High-grade astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016680 LEXMATCH -MONDO:0016680 high grade astrocytic tumor skos:closeMatch Orphanet:251561 High-grade astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016680 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018340 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206726 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251576 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5653 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016681 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016681 LEXMATCH -MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251576 LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334588 LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251579 LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20705 LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016682 LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016682 LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251579 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066254 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334576 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251582 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6514 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016683 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016683 LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251582 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002224 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334579 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251589 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5860 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016684 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016684 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251589 LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065869 LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251592 LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20706 LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016685 LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016685 LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251592 LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280785 LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251595 LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5907 LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016686 LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016686 LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251595 LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334580 LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251598 LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20707 LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016687 LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016687 LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251598 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065889 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334582 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251601 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20708 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016688 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016688 LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251601 LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334581 LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251604 LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20709 LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016689 LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016689 LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251604 LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334586 LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251607 LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10631 LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016690 LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016690 LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251607 LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334583 LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251612 LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9808 LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016691 LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016691 LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251612 LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1519086 LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251615 LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20710 LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016692 LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016692 LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251615 LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205768 LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251618 LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10632 LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016693 LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016693 LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251618 LEXMATCH -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030286 LEXMATCH -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251627 LEXMATCH -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9953 LEXMATCH -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016695 LEXMATCH -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016695 LEXMATCH -MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251627 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026659 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334590 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251630 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9472 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016696 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016696 LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251630 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014967 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251636 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6353 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016698 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016698 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251636 LEXMATCH -MONDO:0016698 ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205769 LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251643 LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10633 LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016699 LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016699 LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251643 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014968 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280788 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251646 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10634 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016700 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016700 LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251646 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251651 Oligoastrocytic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027744 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251656 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9769 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016702 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016702 LEXMATCH -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251656 LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431108 LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251663 LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10637 LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016703 LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016703 LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251663 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363903 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251671 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20714 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016705 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016705 LEXMATCH -MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251671 LEXMATCH -MONDO:0016706 chordoid glioma of the third ventricle skos:closeMatch Orphanet:251674 Chordoid glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251674 LEXMATCH -MONDO:0016706 chordoid glioma of the third ventricle skos:closeMatch Orphanet:251674 Chordoid glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20715 LEXMATCH -MONDO:0016706 chordoid glioma of the third ventricle skos:closeMatch Orphanet:251674 Chordoid glioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016706 LEXMATCH -MONDO:0016706 chordoid glioma of the third ventricle skos:closeMatch Orphanet:251674 Chordoid glioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016706 LEXMATCH -MONDO:0016706 chordoid glioma of the third ventricle skos:closeMatch Orphanet:251674 Chordoid glioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251674 LEXMATCH -MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334587 LEXMATCH -MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251679 LEXMATCH -MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10635 LEXMATCH -MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016707 LEXMATCH -MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016707 LEXMATCH -MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251679 LEXMATCH -MONDO:0016709 anaplastic/large cell medulloblastoma skos:closeMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251855 LEXMATCH -MONDO:0016709 anaplastic/large cell medulloblastoma skos:closeMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20717 LEXMATCH -MONDO:0016709 anaplastic/large cell medulloblastoma skos:closeMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016709 LEXMATCH -MONDO:0016709 anaplastic/large cell medulloblastoma skos:closeMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016709 LEXMATCH -MONDO:0016709 anaplastic/large cell medulloblastoma skos:closeMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251855 LEXMATCH -MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251858 LEXMATCH -MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17214 LEXMATCH -MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016710 LEXMATCH -MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016710 LEXMATCH -MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251858 LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751291 LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251863 LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17215 LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016711 LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016711 LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251863 LEXMATCH -MONDO:0016712 classic medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251867 LEXMATCH -MONDO:0016712 classic medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17216 LEXMATCH -MONDO:0016712 classic medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016712 LEXMATCH -MONDO:0016712 classic medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016712 LEXMATCH -MONDO:0016712 classic medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251867 LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057846 LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251870 LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20718 LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016713 LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016713 LEXMATCH -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251870 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014966 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0700367 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251880 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20720 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016715 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016715 LEXMATCH -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251880 LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085138 LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251896 LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20722 LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016717 LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016717 LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251896 LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067478 LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251899 LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8238 LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016718 LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016718 LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251899 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931529 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2519 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18774 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016719 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016719 LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2519 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050487 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205898 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251909 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9369 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016722 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016722 LEXMATCH -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251909 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035059 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917890 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251912 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8207 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016723 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016723 LEXMATCH -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251912 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985219 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251915 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20725 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016724 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016724 LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251915 LEXMATCH -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation skos:closeMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251919 LEXMATCH -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation skos:closeMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10644 LEXMATCH -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation skos:closeMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016725 LEXMATCH -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation skos:closeMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016725 LEXMATCH -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation skos:closeMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251919 LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:closeMatch Orphanet:251927 Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251927 LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:closeMatch Orphanet:251927 Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20727 LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:closeMatch Orphanet:251927 Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016727 LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:closeMatch Orphanet:251927 Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016727 LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:closeMatch Orphanet:251927 Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251927 LEXMATCH -MONDO:0016729 mixed neuronal-glial tumor skos:closeMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251934 LEXMATCH -MONDO:0016729 mixed neuronal-glial tumor skos:closeMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20728 LEXMATCH -MONDO:0016729 mixed neuronal-glial tumor skos:closeMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016729 LEXMATCH -MONDO:0016729 mixed neuronal-glial tumor skos:closeMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016729 LEXMATCH -MONDO:0016729 mixed neuronal-glial tumor skos:closeMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251934 LEXMATCH -MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251937 Gangliocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251937 LEXMATCH -MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251937 Gangliocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10638 LEXMATCH -MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251937 Gangliocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016730 LEXMATCH -MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251937 Gangliocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016730 LEXMATCH -MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251937 Gangliocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251937 LEXMATCH -MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 LEXMATCH -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:closeMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251940 LEXMATCH -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:closeMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20729 LEXMATCH -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:closeMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016731 LEXMATCH -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:closeMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016731 LEXMATCH -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:closeMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251940 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017701 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206716 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251949 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2430 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016733 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016733 LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251949 LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431112 LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251957 LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10639 LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016734 LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016734 LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251957 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985174 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251962 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20730 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016735 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016735 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251962 LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:closeMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251975 LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:closeMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13593 LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:closeMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016736 LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:closeMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016736 LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:closeMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251975 LEXMATCH -MONDO:0016739 yolk sac tumor of central nervous system skos:closeMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252006 LEXMATCH -MONDO:0016739 yolk sac tumor of central nervous system skos:closeMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20733 LEXMATCH -MONDO:0016739 yolk sac tumor of central nervous system skos:closeMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016739 LEXMATCH -MONDO:0016739 yolk sac tumor of central nervous system skos:closeMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016739 LEXMATCH -MONDO:0016739 yolk sac tumor of central nervous system skos:closeMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252006 LEXMATCH -MONDO:0016740 choriocarcinoma of the central nervous system skos:closeMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252015 LEXMATCH -MONDO:0016740 choriocarcinoma of the central nervous system skos:closeMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20734 LEXMATCH -MONDO:0016740 choriocarcinoma of the central nervous system skos:closeMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016740 LEXMATCH -MONDO:0016740 choriocarcinoma of the central nervous system skos:closeMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016740 LEXMATCH -MONDO:0016740 choriocarcinoma of the central nervous system skos:closeMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252015 LEXMATCH -MONDO:0016742 mixed germ cell tumor of central nervous system skos:closeMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252021 LEXMATCH -MONDO:0016742 mixed germ cell tumor of central nervous system skos:closeMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20736 LEXMATCH -MONDO:0016742 mixed germ cell tumor of central nervous system skos:closeMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016742 LEXMATCH -MONDO:0016742 mixed germ cell tumor of central nervous system skos:closeMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016742 LEXMATCH -MONDO:0016742 mixed germ cell tumor of central nervous system skos:closeMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252021 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061282 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025284 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252025 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20737 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016743 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016743 LEXMATCH -MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252025 LEXMATCH -MONDO:0016745 diffuse leptomeningeal melanocytosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252031 LEXMATCH -MONDO:0016745 diffuse leptomeningeal melanocytosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20739 LEXMATCH -MONDO:0016745 diffuse leptomeningeal melanocytosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016745 LEXMATCH -MONDO:0016745 diffuse leptomeningeal melanocytosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016745 LEXMATCH -MONDO:0016745 diffuse leptomeningeal melanocytosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252031 LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266113 LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252046 LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20740 LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016746 LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016746 LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252046 LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252050 LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12016 LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant melanoma of meninges LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary melanoma of the cns LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016747 LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016747 LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252050 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018813 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206734 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252054 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8232 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016748 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016748 LEXMATCH -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252054 LEXMATCH -MONDO:0016749 tumor of cranial and spinal nerves skos:closeMatch Orphanet:252057 Tumor of cranial and spinal nerves semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12697 LEXMATCH -MONDO:0016749 tumor of cranial and spinal nerves skos:closeMatch Orphanet:252057 Tumor of cranial and spinal nerves semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016749 LEXMATCH -MONDO:0016749 tumor of cranial and spinal nerves skos:closeMatch Orphanet:252057 Tumor of cranial and spinal nerves semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016749 LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930954 LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2521 LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8623 LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cleft palate-abnormal retinal pigmentation syndrome LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016750 LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016750 LEXMATCH -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2521 LEXMATCH -MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266188 LEXMATCH -MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252128 LEXMATCH -MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20741 LEXMATCH -MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016751 LEXMATCH -MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016751 LEXMATCH -MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252128 LEXMATCH -MONDO:0016752 benign peripheral nerve sheath tumor skos:closeMatch Orphanet:252131 Benign peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7180 LEXMATCH -MONDO:0016752 benign peripheral nerve sheath tumor skos:closeMatch Orphanet:252131 Benign peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016752 LEXMATCH -MONDO:0016752 benign peripheral nerve sheath tumor skos:closeMatch Orphanet:252131 Benign peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016752 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029267 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027830 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252183 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7191 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016755 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016755 LEXMATCH -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252183 LEXMATCH -MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334616 LEXMATCH -MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:252212 LEXMATCH -MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20743 LEXMATCH -MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016757 LEXMATCH -MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016757 LEXMATCH -MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:252212 LEXMATCH -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:closeMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2523 LEXMATCH -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:closeMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3607 LEXMATCH -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:closeMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016758 LEXMATCH -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:closeMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016758 LEXMATCH -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:closeMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2523 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932714 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2524 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10705 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016759 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016759 LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2524 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2528 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3627 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016760 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016760 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2528 LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:253 LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sed and semd LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016761 LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0016761 LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:narrowMatch rdf:ID orphanet:253 LEXMATCH -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254 LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18685 LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016763 LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016763 LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254 LEXMATCH -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2542 LEXMATCH -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12085 LEXMATCH -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016764 LEXMATCH -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016764 LEXMATCH -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2542 LEXMATCH -MONDO:0016765 19p13.12 microdeletion syndrome skos:closeMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254346 LEXMATCH -MONDO:0016765 19p13.12 microdeletion syndrome skos:closeMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10991 LEXMATCH -MONDO:0016765 19p13.12 microdeletion syndrome skos:closeMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016765 LEXMATCH -MONDO:0016765 19p13.12 microdeletion syndrome skos:closeMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016765 LEXMATCH -MONDO:0016765 19p13.12 microdeletion syndrome skos:closeMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254346 LEXMATCH -MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023650 LEXMATCH -MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254379 LEXMATCH -MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11898 LEXMATCH -MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016769 LEXMATCH -MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016769 LEXMATCH -MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254379 LEXMATCH -MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406365 LEXMATCH -MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254395 LEXMATCH -MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12673 LEXMATCH -MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016770 LEXMATCH -MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016770 LEXMATCH -MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254395 LEXMATCH -MONDO:0016771 annular atrophic lichen planus skos:closeMatch Orphanet:254411 Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254411 LEXMATCH -MONDO:0016771 annular atrophic lichen planus skos:closeMatch Orphanet:254411 Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12676 LEXMATCH -MONDO:0016771 annular atrophic lichen planus skos:closeMatch Orphanet:254411 Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016771 LEXMATCH -MONDO:0016771 annular atrophic lichen planus skos:closeMatch Orphanet:254411 Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016771 LEXMATCH -MONDO:0016771 annular atrophic lichen planus skos:closeMatch Orphanet:254411 Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254411 LEXMATCH -MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406363 LEXMATCH -MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254424 LEXMATCH -MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12674 LEXMATCH -MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016772 LEXMATCH -MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016772 LEXMATCH -MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254424 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056959 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023647 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254449 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12675 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016773 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016773 LEXMATCH -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254449 LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406366 LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254463 LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10816 LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016774 LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016774 LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254463 LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406369 LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254478 LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12677 LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016775 LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016775 LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254478 LEXMATCH -MONDO:0016776 frontal fibrosing alopecia skos:closeMatch Orphanet:254492 Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254492 LEXMATCH -MONDO:0016776 frontal fibrosing alopecia skos:closeMatch Orphanet:254492 Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10886 LEXMATCH -MONDO:0016776 frontal fibrosing alopecia skos:closeMatch Orphanet:254492 Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016776 LEXMATCH -MONDO:0016776 frontal fibrosing alopecia skos:closeMatch Orphanet:254492 Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016776 LEXMATCH -MONDO:0016776 frontal fibrosing alopecia skos:closeMatch Orphanet:254492 Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254492 LEXMATCH -MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1443900 LEXMATCH -MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254504 LEXMATCH -MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20746 LEXMATCH -MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016777 LEXMATCH -MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016777 LEXMATCH -MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254504 LEXMATCH -MONDO:0016778 iatrogenic botulism skos:closeMatch Orphanet:254509 Iatrogenic botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254509 LEXMATCH -MONDO:0016778 iatrogenic botulism skos:closeMatch Orphanet:254509 Iatrogenic botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20747 LEXMATCH -MONDO:0016778 iatrogenic botulism skos:closeMatch Orphanet:254509 Iatrogenic botulism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016778 LEXMATCH -MONDO:0016778 iatrogenic botulism skos:closeMatch Orphanet:254509 Iatrogenic botulism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016778 LEXMATCH -MONDO:0016778 iatrogenic botulism skos:closeMatch Orphanet:254509 Iatrogenic botulism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254509 LEXMATCH -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254519 LEXMATCH -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17219 LEXMATCH -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016779 LEXMATCH -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016779 LEXMATCH -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254519 LEXMATCH -MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254525 LEXMATCH -MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17220 LEXMATCH -MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016780 LEXMATCH -MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016780 LEXMATCH -MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254525 LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254528 LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17221 LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016781 LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016781 LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254528 LEXMATCH -MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254531 LEXMATCH -MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17222 LEXMATCH -MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016782 LEXMATCH -MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016782 LEXMATCH -MONDO:0016782 paternal 14q32.2 hypomethylation syndrome skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254531 LEXMATCH -MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254534 LEXMATCH -MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17223 LEXMATCH -MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016783 LEXMATCH -MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016783 LEXMATCH -MONDO:0016783 maternal 14q32.2 hypermethylation syndrome skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254534 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0678213 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254688 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17224 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016785 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016785 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254688 LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334529 LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254693 LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20749 LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016786 LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016786 LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254693 LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266159 LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254698 LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20750 LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016787 LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016787 LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254698 LEXMATCH -MONDO:0016789 pyruvate metabolism disorder skos:closeMatch Orphanet:254746 Pyruvate metabolism disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20752 LEXMATCH -MONDO:0016789 pyruvate metabolism disorder skos:closeMatch Orphanet:254746 Pyruvate metabolism disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016789 LEXMATCH -MONDO:0016789 pyruvate metabolism disorder skos:closeMatch Orphanet:254746 Pyruvate metabolism disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016789 LEXMATCH -MONDO:0016790 tricarboxylic acid cycle disorder skos:closeMatch Orphanet:254749 Tricarboxylic acid cycle disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20753 LEXMATCH -MONDO:0016790 tricarboxylic acid cycle disorder skos:closeMatch Orphanet:254749 Tricarboxylic acid cycle disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016790 LEXMATCH -MONDO:0016790 tricarboxylic acid cycle disorder skos:closeMatch Orphanet:254749 Tricarboxylic acid cycle disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016790 LEXMATCH -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254803 LEXMATCH -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17225 LEXMATCH -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016796 LEXMATCH -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016796 LEXMATCH -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254803 LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683791 LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254818 LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20759 LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016798 LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016798 LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254818 LEXMATCH -MONDO:0016800 mitochondrial membrane transport disorder skos:closeMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254827 LEXMATCH -MONDO:0016800 mitochondrial membrane transport disorder skos:closeMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20761 LEXMATCH -MONDO:0016800 mitochondrial membrane transport disorder skos:closeMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016800 LEXMATCH -MONDO:0016800 mitochondrial membrane transport disorder skos:closeMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016800 LEXMATCH -MONDO:0016800 mitochondrial membrane transport disorder skos:closeMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254827 LEXMATCH -MONDO:0016801 mitochondrial substrate carrier disorder skos:closeMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254830 LEXMATCH -MONDO:0016801 mitochondrial substrate carrier disorder skos:closeMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20762 LEXMATCH -MONDO:0016801 mitochondrial substrate carrier disorder skos:closeMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016801 LEXMATCH -MONDO:0016801 mitochondrial substrate carrier disorder skos:closeMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016801 LEXMATCH -MONDO:0016801 mitochondrial substrate carrier disorder skos:closeMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254830 LEXMATCH -MONDO:0016802 mitochondrial protein import disorder skos:closeMatch Orphanet:254834 Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254834 LEXMATCH -MONDO:0016802 mitochondrial protein import disorder skos:closeMatch Orphanet:254834 Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20763 LEXMATCH -MONDO:0016802 mitochondrial protein import disorder skos:closeMatch Orphanet:254834 Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016802 LEXMATCH -MONDO:0016802 mitochondrial protein import disorder skos:closeMatch Orphanet:254834 Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016802 LEXMATCH -MONDO:0016802 mitochondrial protein import disorder skos:closeMatch Orphanet:254834 Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254834 LEXMATCH -MONDO:0016806 maternally-inherited mitochondrial dystonia skos:closeMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254851 LEXMATCH -MONDO:0016806 maternally-inherited mitochondrial dystonia skos:closeMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20767 LEXMATCH -MONDO:0016806 maternally-inherited mitochondrial dystonia skos:closeMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016806 LEXMATCH -MONDO:0016806 maternally-inherited mitochondrial dystonia skos:closeMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016806 LEXMATCH -MONDO:0016806 maternally-inherited mitochondrial dystonia skos:closeMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254851 LEXMATCH -MONDO:0016807 pure mitochondrial myopathy skos:closeMatch Orphanet:254854 Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254854 LEXMATCH -MONDO:0016807 pure mitochondrial myopathy skos:closeMatch Orphanet:254854 Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20768 LEXMATCH -MONDO:0016807 pure mitochondrial myopathy skos:closeMatch Orphanet:254854 Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016807 LEXMATCH -MONDO:0016807 pure mitochondrial myopathy skos:closeMatch Orphanet:254854 Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016807 LEXMATCH -MONDO:0016807 pure mitochondrial myopathy skos:closeMatch Orphanet:254854 Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254854 LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843852 LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254881 LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17229 LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016809 LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016809 LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254881 LEXMATCH -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254886 LEXMATCH -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1191 LEXMATCH -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016810 LEXMATCH -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016810 LEXMATCH -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254886 LEXMATCH -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254902 LEXMATCH -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17231 LEXMATCH -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016811 LEXMATCH -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016811 LEXMATCH -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254902 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851920 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12144 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016812 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016812 LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255 LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:255210 LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3671 LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna-associated leigh syndrome LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016814 LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016814 LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:255210 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070612 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2554 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2033 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016817 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016817 LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2554 LEXMATCH -MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:closeMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2558 LEXMATCH -MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:closeMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3617 LEXMATCH -MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:closeMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016818 LEXMATCH -MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:closeMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016818 LEXMATCH -MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:closeMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2558 LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2560 LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3698 LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016819 LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016819 LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2560 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028047 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026654 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2573 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7064 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016820 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016820 LEXMATCH -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2573 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014952 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2582 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18775 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016822 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016822 LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2582 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028427 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2583 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3862 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016823 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016823 LEXMATCH -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2583 LEXMATCH -MONDO:0016824 infantile myofibromatosis skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2591 LEXMATCH -MONDO:0016824 infantile myofibromatosis skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2998 LEXMATCH -MONDO:0016824 infantile myofibromatosis skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016824 LEXMATCH -MONDO:0016824 infantile myofibromatosis skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016824 LEXMATCH -MONDO:0016824 infantile myofibromatosis skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2591 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251950 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2597 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3682 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251950 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016825 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016825 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251950 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2597 LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251950 LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26 LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3579 LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016826 LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016826 LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26 LEXMATCH -MONDO:0016828 autosomal recessive sideroblastic anemia skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:260305 LEXMATCH -MONDO:0016828 autosomal recessive sideroblastic anemia skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17240 LEXMATCH -MONDO:0016828 autosomal recessive sideroblastic anemia skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016828 LEXMATCH -MONDO:0016828 autosomal recessive sideroblastic anemia skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016828 LEXMATCH -MONDO:0016828 autosomal recessive sideroblastic anemia skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:260305 LEXMATCH -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266833 LEXMATCH -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2604 LEXMATCH -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3443 LEXMATCH -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016829 LEXMATCH -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016829 LEXMATCH -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2604 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410189 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6329 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016830 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016830 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261 LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 LEXMATCH -MONDO:0016831 linear verrucous nevus syndrome skos:closeMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2611 LEXMATCH -MONDO:0016831 linear verrucous nevus syndrome skos:closeMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3259 LEXMATCH -MONDO:0016831 linear verrucous nevus syndrome skos:closeMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016831 LEXMATCH -MONDO:0016831 linear verrucous nevus syndrome skos:closeMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016831 LEXMATCH -MONDO:0016831 linear verrucous nevus syndrome skos:closeMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2611 LEXMATCH -MONDO:0016832 distal 7q11.23 microduplication syndrome skos:closeMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261102 LEXMATCH -MONDO:0016832 distal 7q11.23 microduplication syndrome skos:closeMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20770 LEXMATCH -MONDO:0016832 distal 7q11.23 microduplication syndrome skos:closeMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016832 LEXMATCH -MONDO:0016832 distal 7q11.23 microduplication syndrome skos:closeMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016832 LEXMATCH -MONDO:0016832 distal 7q11.23 microduplication syndrome skos:closeMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261102 LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:closeMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261144 LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:closeMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20771 LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:closeMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016833 LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:closeMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016833 LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:closeMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261144 LEXMATCH -MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:closeMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261204 LEXMATCH -MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:closeMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20772 LEXMATCH -MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:closeMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016834 LEXMATCH -MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:closeMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016834 LEXMATCH -MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:closeMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261204 LEXMATCH -MONDO:0016835 14q11.2 microduplication syndrome skos:closeMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261229 LEXMATCH -MONDO:0016835 14q11.2 microduplication syndrome skos:closeMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20773 LEXMATCH -MONDO:0016835 14q11.2 microduplication syndrome skos:closeMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016835 LEXMATCH -MONDO:0016835 14q11.2 microduplication syndrome skos:closeMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016835 LEXMATCH -MONDO:0016835 14q11.2 microduplication syndrome skos:closeMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261229 LEXMATCH -MONDO:0016836 16p13.11 microdeletion syndrome skos:closeMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261236 LEXMATCH -MONDO:0016836 16p13.11 microdeletion syndrome skos:closeMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20774 LEXMATCH -MONDO:0016836 16p13.11 microdeletion syndrome skos:closeMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016836 LEXMATCH -MONDO:0016836 16p13.11 microdeletion syndrome skos:closeMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016836 LEXMATCH -MONDO:0016836 16p13.11 microdeletion syndrome skos:closeMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261236 LEXMATCH -MONDO:0016837 16p13.11 microduplication syndrome skos:closeMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261243 LEXMATCH -MONDO:0016837 16p13.11 microduplication syndrome skos:closeMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20775 LEXMATCH -MONDO:0016837 16p13.11 microduplication syndrome skos:closeMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016837 LEXMATCH -MONDO:0016837 16p13.11 microduplication syndrome skos:closeMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016837 LEXMATCH -MONDO:0016837 16p13.11 microduplication syndrome skos:closeMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261243 LEXMATCH -MONDO:0016838 16q24.3 microdeletion syndrome skos:closeMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261250 LEXMATCH -MONDO:0016838 16q24.3 microdeletion syndrome skos:closeMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10935 LEXMATCH -MONDO:0016838 16q24.3 microdeletion syndrome skos:closeMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016838 LEXMATCH -MONDO:0016838 16q24.3 microdeletion syndrome skos:closeMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016838 LEXMATCH -MONDO:0016838 16q24.3 microdeletion syndrome skos:closeMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261250 LEXMATCH -MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:closeMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261257 LEXMATCH -MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:closeMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20776 LEXMATCH -MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:closeMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016839 LEXMATCH -MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:closeMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016839 LEXMATCH -MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:closeMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261257 LEXMATCH -MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795865 LEXMATCH -MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261290 LEXMATCH -MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5318 LEXMATCH -MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016840 LEXMATCH -MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016840 LEXMATCH -MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261290 LEXMATCH -MONDO:0016841 20p12.3 microdeletion syndrome skos:closeMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261295 LEXMATCH -MONDO:0016841 20p12.3 microdeletion syndrome skos:closeMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12492 LEXMATCH -MONDO:0016841 20p12.3 microdeletion syndrome skos:closeMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016841 LEXMATCH -MONDO:0016841 20p12.3 microdeletion syndrome skos:closeMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016841 LEXMATCH -MONDO:0016841 20p12.3 microdeletion syndrome skos:closeMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261295 LEXMATCH -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:closeMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261304 LEXMATCH -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:closeMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20777 LEXMATCH -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:closeMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016842 LEXMATCH -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:closeMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016842 LEXMATCH -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:closeMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261304 LEXMATCH -MONDO:0016843 20q13.33 microdeletion syndrome skos:closeMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261311 LEXMATCH -MONDO:0016843 20q13.33 microdeletion syndrome skos:closeMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20778 LEXMATCH -MONDO:0016843 20q13.33 microdeletion syndrome skos:closeMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016843 LEXMATCH -MONDO:0016843 20q13.33 microdeletion syndrome skos:closeMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016843 LEXMATCH -MONDO:0016843 20q13.33 microdeletion syndrome skos:closeMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261311 LEXMATCH -MONDO:0016844 trisomy 20p skos:closeMatch Orphanet:261318 Trisomy 20p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261318 LEXMATCH -MONDO:0016844 trisomy 20p skos:closeMatch Orphanet:261318 Trisomy 20p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5333 LEXMATCH -MONDO:0016844 trisomy 20p skos:closeMatch Orphanet:261318 Trisomy 20p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016844 LEXMATCH -MONDO:0016844 trisomy 20p skos:closeMatch Orphanet:261318 Trisomy 20p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016844 LEXMATCH -MONDO:0016844 trisomy 20p skos:closeMatch Orphanet:261318 Trisomy 20p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261318 LEXMATCH -MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:closeMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261323 LEXMATCH -MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:closeMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20779 LEXMATCH -MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:closeMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016845 LEXMATCH -MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:closeMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016845 LEXMATCH -MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:closeMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261323 LEXMATCH -MONDO:0016846 distal 22q11.2 microduplication syndrome skos:closeMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261337 LEXMATCH -MONDO:0016846 distal 22q11.2 microduplication syndrome skos:closeMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20780 LEXMATCH -MONDO:0016846 distal 22q11.2 microduplication syndrome skos:closeMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016846 LEXMATCH -MONDO:0016846 distal 22q11.2 microduplication syndrome skos:closeMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016846 LEXMATCH -MONDO:0016846 distal 22q11.2 microduplication syndrome skos:closeMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261337 LEXMATCH -MONDO:0016847 trisomy 1q skos:closeMatch Orphanet:261344 Trisomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261344 LEXMATCH -MONDO:0016847 trisomy 1q skos:closeMatch Orphanet:261344 Trisomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20781 LEXMATCH -MONDO:0016847 trisomy 1q skos:closeMatch Orphanet:261344 Trisomy 1q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016847 LEXMATCH -MONDO:0016847 trisomy 1q skos:closeMatch Orphanet:261344 Trisomy 1q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016847 LEXMATCH -MONDO:0016847 trisomy 1q skos:closeMatch Orphanet:261344 Trisomy 1q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261344 LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751547 LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26137 LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3068 LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016848 LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016848 LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26137 LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:closeMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261501 LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:closeMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20782 LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:closeMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016850 LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:closeMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016850 LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:closeMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261501 LEXMATCH -MONDO:0016851 maternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261519 Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261519 LEXMATCH -MONDO:0016851 maternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261519 Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20783 LEXMATCH -MONDO:0016851 maternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261519 Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016851 LEXMATCH -MONDO:0016851 maternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261519 Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016851 LEXMATCH -MONDO:0016851 maternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261519 Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261519 LEXMATCH -MONDO:0016852 paternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261524 Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261524 LEXMATCH -MONDO:0016852 paternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261524 Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20784 LEXMATCH -MONDO:0016852 paternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261524 Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016852 LEXMATCH -MONDO:0016852 paternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261524 Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016852 LEXMATCH -MONDO:0016852 paternal uniparental disomy of chromosome X skos:closeMatch Orphanet:261524 Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261524 LEXMATCH -MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261529 LEXMATCH -MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20785 LEXMATCH -MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome y syndrome LEXMATCH -MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016853 LEXMATCH -MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016853 LEXMATCH -MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261529 LEXMATCH -MONDO:0016854 49,XXXYY syndrome skos:closeMatch Orphanet:261534 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261534 LEXMATCH -MONDO:0016854 49,XXXYY syndrome skos:closeMatch Orphanet:261534 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10922 LEXMATCH -MONDO:0016854 49,XXXYY syndrome skos:closeMatch Orphanet:261534 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016854 LEXMATCH -MONDO:0016854 49,XXXYY syndrome skos:closeMatch Orphanet:261534 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016854 LEXMATCH -MONDO:0016854 49,XXXYY syndrome skos:closeMatch Orphanet:261534 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261534 LEXMATCH -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261537 LEXMATCH -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17248 LEXMATCH -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016855 LEXMATCH -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016855 LEXMATCH -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261537 LEXMATCH -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261552 LEXMATCH -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17249 LEXMATCH -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016856 LEXMATCH -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016856 LEXMATCH -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261552 LEXMATCH -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:closeMatch Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261584 LEXMATCH -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:closeMatch Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20786 LEXMATCH -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:closeMatch Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016860 LEXMATCH -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:closeMatch Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016860 LEXMATCH -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:closeMatch Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261584 LEXMATCH -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261600 LEXMATCH -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17250 LEXMATCH -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016861 LEXMATCH -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016861 LEXMATCH -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261600 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118450 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261619 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17251 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016862 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016862 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118450 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261619 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118450 LEXMATCH -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:closeMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261638 LEXMATCH -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:closeMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20787 LEXMATCH -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:closeMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016863 LEXMATCH -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:closeMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016863 LEXMATCH -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:closeMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261638 LEXMATCH -MONDO:0016864 Okihiro syndrome due to a point mutation skos:closeMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261647 LEXMATCH -MONDO:0016864 Okihiro syndrome due to a point mutation skos:closeMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20788 LEXMATCH -MONDO:0016864 Okihiro syndrome due to a point mutation skos:closeMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016864 LEXMATCH -MONDO:0016864 Okihiro syndrome due to a point mutation skos:closeMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016864 LEXMATCH -MONDO:0016864 Okihiro syndrome due to a point mutation skos:closeMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261647 LEXMATCH -MONDO:0016865 Kleefstra syndrome due to a point mutation skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261652 LEXMATCH -MONDO:0016865 Kleefstra syndrome due to a point mutation skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17253 LEXMATCH -MONDO:0016865 Kleefstra syndrome due to a point mutation skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016865 LEXMATCH -MONDO:0016865 Kleefstra syndrome due to a point mutation skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016865 LEXMATCH -MONDO:0016865 Kleefstra syndrome due to a point mutation skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261652 LEXMATCH -MONDO:0016866 partial deletion of chromosome 1 skos:closeMatch Orphanet:261766 Partial deletion of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20789 LEXMATCH -MONDO:0016866 partial deletion of chromosome 1 skos:closeMatch Orphanet:261766 Partial deletion of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016866 LEXMATCH -MONDO:0016866 partial deletion of chromosome 1 skos:closeMatch Orphanet:261766 Partial deletion of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016866 LEXMATCH -MONDO:0016867 partial deletion of chromosome 2 skos:closeMatch Orphanet:261771 Partial deletion of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20790 LEXMATCH -MONDO:0016867 partial deletion of chromosome 2 skos:closeMatch Orphanet:261771 Partial deletion of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016867 LEXMATCH -MONDO:0016867 partial deletion of chromosome 2 skos:closeMatch Orphanet:261771 Partial deletion of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016867 LEXMATCH -MONDO:0016868 partial deletion of chromosome 3 skos:closeMatch Orphanet:261776 Partial deletion of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20791 LEXMATCH -MONDO:0016868 partial deletion of chromosome 3 skos:closeMatch Orphanet:261776 Partial deletion of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016868 LEXMATCH -MONDO:0016868 partial deletion of chromosome 3 skos:closeMatch Orphanet:261776 Partial deletion of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016868 LEXMATCH -MONDO:0016869 partial deletion of chromosome 4 skos:closeMatch Orphanet:261781 Partial deletion of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20792 LEXMATCH -MONDO:0016869 partial deletion of chromosome 4 skos:closeMatch Orphanet:261781 Partial deletion of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016869 LEXMATCH -MONDO:0016869 partial deletion of chromosome 4 skos:closeMatch Orphanet:261781 Partial deletion of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016869 LEXMATCH -MONDO:0016870 partial deletion of chromosome 5 skos:closeMatch Orphanet:261786 Partial deletion of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20793 LEXMATCH -MONDO:0016870 partial deletion of chromosome 5 skos:closeMatch Orphanet:261786 Partial deletion of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016870 LEXMATCH -MONDO:0016870 partial deletion of chromosome 5 skos:closeMatch Orphanet:261786 Partial deletion of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016870 LEXMATCH -MONDO:0016871 partial deletion of chromosome 6 skos:closeMatch Orphanet:261791 Partial deletion of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20794 LEXMATCH -MONDO:0016871 partial deletion of chromosome 6 skos:closeMatch Orphanet:261791 Partial deletion of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016871 LEXMATCH -MONDO:0016871 partial deletion of chromosome 6 skos:closeMatch Orphanet:261791 Partial deletion of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016871 LEXMATCH -MONDO:0016872 partial deletion of chromosome 7 skos:closeMatch Orphanet:261796 Partial deletion of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20795 LEXMATCH -MONDO:0016872 partial deletion of chromosome 7 skos:closeMatch Orphanet:261796 Partial deletion of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016872 LEXMATCH -MONDO:0016872 partial deletion of chromosome 7 skos:closeMatch Orphanet:261796 Partial deletion of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016872 LEXMATCH -MONDO:0016873 partial deletion of chromosome 8 skos:closeMatch Orphanet:261801 Partial deletion of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20796 LEXMATCH -MONDO:0016873 partial deletion of chromosome 8 skos:closeMatch Orphanet:261801 Partial deletion of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016873 LEXMATCH -MONDO:0016873 partial deletion of chromosome 8 skos:closeMatch Orphanet:261801 Partial deletion of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016873 LEXMATCH -MONDO:0016874 partial deletion of chromosome 9 skos:closeMatch Orphanet:261806 Partial deletion of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20797 LEXMATCH -MONDO:0016874 partial deletion of chromosome 9 skos:closeMatch Orphanet:261806 Partial deletion of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016874 LEXMATCH -MONDO:0016874 partial deletion of chromosome 9 skos:closeMatch Orphanet:261806 Partial deletion of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016874 LEXMATCH -MONDO:0016875 partial deletion of chromosome 10 skos:closeMatch Orphanet:261811 Partial deletion of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20798 LEXMATCH -MONDO:0016875 partial deletion of chromosome 10 skos:closeMatch Orphanet:261811 Partial deletion of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016875 LEXMATCH -MONDO:0016875 partial deletion of chromosome 10 skos:closeMatch Orphanet:261811 Partial deletion of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016875 LEXMATCH -MONDO:0016876 partial deletion of chromosome 11 skos:closeMatch Orphanet:261816 Partial deletion of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20799 LEXMATCH -MONDO:0016876 partial deletion of chromosome 11 skos:closeMatch Orphanet:261816 Partial deletion of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016876 LEXMATCH -MONDO:0016876 partial deletion of chromosome 11 skos:closeMatch Orphanet:261816 Partial deletion of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016876 LEXMATCH -MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:closeMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261821 LEXMATCH -MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:closeMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20800 LEXMATCH -MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:closeMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016877 LEXMATCH -MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:closeMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016877 LEXMATCH -MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:closeMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261821 LEXMATCH -MONDO:0016878 partial deletion of chromosome 16 skos:closeMatch Orphanet:261826 Partial deletion of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20801 LEXMATCH -MONDO:0016878 partial deletion of chromosome 16 skos:closeMatch Orphanet:261826 Partial deletion of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016878 LEXMATCH -MONDO:0016878 partial deletion of chromosome 16 skos:closeMatch Orphanet:261826 Partial deletion of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016878 LEXMATCH -MONDO:0016879 partial deletion of chromosome 17 skos:closeMatch Orphanet:261831 Partial deletion of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20802 LEXMATCH -MONDO:0016879 partial deletion of chromosome 17 skos:closeMatch Orphanet:261831 Partial deletion of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016879 LEXMATCH -MONDO:0016879 partial deletion of chromosome 17 skos:closeMatch Orphanet:261831 Partial deletion of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016879 LEXMATCH -MONDO:0016880 partial deletion of chromosome 18 skos:closeMatch Orphanet:261836 Partial deletion of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20803 LEXMATCH -MONDO:0016880 partial deletion of chromosome 18 skos:closeMatch Orphanet:261836 Partial deletion of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016880 LEXMATCH -MONDO:0016880 partial deletion of chromosome 18 skos:closeMatch Orphanet:261836 Partial deletion of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016880 LEXMATCH -MONDO:0016881 partial deletion of chromosome 19 skos:closeMatch Orphanet:261841 Partial deletion of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20804 LEXMATCH -MONDO:0016881 partial deletion of chromosome 19 skos:closeMatch Orphanet:261841 Partial deletion of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016881 LEXMATCH -MONDO:0016881 partial deletion of chromosome 19 skos:closeMatch Orphanet:261841 Partial deletion of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016881 LEXMATCH -MONDO:0016882 partial deletion of chromosome 20 skos:closeMatch Orphanet:261846 Partial deletion of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20805 LEXMATCH -MONDO:0016882 partial deletion of chromosome 20 skos:closeMatch Orphanet:261846 Partial deletion of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016882 LEXMATCH -MONDO:0016882 partial deletion of chromosome 20 skos:closeMatch Orphanet:261846 Partial deletion of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016882 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795796 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261857 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20806 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016883 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016883 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261857 LEXMATCH -MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:closeMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261866 LEXMATCH -MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:closeMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20807 LEXMATCH -MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:closeMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016884 LEXMATCH -MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:closeMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016884 LEXMATCH -MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:closeMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261866 LEXMATCH -MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:closeMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261875 LEXMATCH -MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:closeMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:37 LEXMATCH -MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:closeMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016885 LEXMATCH -MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:closeMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016885 LEXMATCH -MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:closeMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261875 LEXMATCH -MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261893 LEXMATCH -MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20809 LEXMATCH -MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016887 LEXMATCH -MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016887 LEXMATCH -MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261893 LEXMATCH -MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:closeMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261902 LEXMATCH -MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:closeMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20810 LEXMATCH -MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:closeMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016888 LEXMATCH -MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:closeMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016888 LEXMATCH -MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:closeMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261902 LEXMATCH -MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:closeMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261911 LEXMATCH -MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:closeMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20811 LEXMATCH -MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:closeMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016889 LEXMATCH -MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:closeMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016889 LEXMATCH -MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:closeMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261911 LEXMATCH -MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:closeMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261920 LEXMATCH -MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:closeMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20812 LEXMATCH -MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:closeMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016890 LEXMATCH -MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:closeMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016890 LEXMATCH -MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:closeMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261920 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795836 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261938 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20814 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016892 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016892 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261938 LEXMATCH -MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:closeMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261947 LEXMATCH -MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:closeMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20815 LEXMATCH -MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:closeMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016893 LEXMATCH -MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:closeMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016893 LEXMATCH -MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:closeMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261947 LEXMATCH -MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:closeMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261956 LEXMATCH -MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:closeMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20816 LEXMATCH -MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:closeMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016894 LEXMATCH -MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:closeMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016894 LEXMATCH -MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:closeMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261956 LEXMATCH -MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:closeMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261983 LEXMATCH -MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:closeMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20819 LEXMATCH -MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:closeMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016897 LEXMATCH -MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:closeMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016897 LEXMATCH -MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:closeMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261983 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:closeMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261992 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:closeMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20820 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:closeMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016898 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:closeMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016898 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:closeMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261992 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795804 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262010 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20822 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016901 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016901 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:closeMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262010 LEXMATCH -MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:closeMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262019 LEXMATCH -MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:closeMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20823 LEXMATCH -MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:closeMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016902 LEXMATCH -MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:closeMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016902 LEXMATCH -MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:closeMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262019 LEXMATCH -MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:closeMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262029 LEXMATCH -MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:closeMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20824 LEXMATCH -MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:closeMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016903 LEXMATCH -MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:closeMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016903 LEXMATCH -MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:closeMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262029 LEXMATCH -MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:closeMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262038 LEXMATCH -MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:closeMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20825 LEXMATCH -MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:closeMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016904 LEXMATCH -MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:closeMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016904 LEXMATCH -MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:closeMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262038 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795816 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262047 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20826 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016905 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016905 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:closeMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262047 LEXMATCH -MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:closeMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262056 LEXMATCH -MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:closeMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20827 LEXMATCH -MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:closeMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016906 LEXMATCH -MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:closeMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016906 LEXMATCH -MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:closeMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262056 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795828 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262065 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20828 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016907 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016907 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262065 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262074 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20829 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016908 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016908 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262074 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795839 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262083 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20830 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016909 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016909 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262083 LEXMATCH -MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262092 LEXMATCH -MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20831 LEXMATCH -MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016910 LEXMATCH -MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016910 LEXMATCH -MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262092 LEXMATCH -MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262101 LEXMATCH -MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20832 LEXMATCH -MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016911 LEXMATCH -MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016911 LEXMATCH -MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262101 LEXMATCH -MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:closeMatch Orphanet:262110 Partial deletion of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20833 LEXMATCH -MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:closeMatch Orphanet:262110 Partial deletion of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016912 LEXMATCH -MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:closeMatch Orphanet:262110 Partial deletion of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016912 LEXMATCH -MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:closeMatch Orphanet:262119 Partial deletion of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20834 LEXMATCH -MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:closeMatch Orphanet:262119 Partial deletion of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016913 LEXMATCH -MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:closeMatch Orphanet:262119 Partial deletion of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016913 LEXMATCH -MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:closeMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262128 LEXMATCH -MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:closeMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20835 LEXMATCH -MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:closeMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016914 LEXMATCH -MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:closeMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016914 LEXMATCH -MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:closeMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262128 LEXMATCH -MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:closeMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262137 LEXMATCH -MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:closeMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20836 LEXMATCH -MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:closeMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016915 LEXMATCH -MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:closeMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016915 LEXMATCH -MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:closeMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262137 LEXMATCH -MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:closeMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262155 LEXMATCH -MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:closeMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20838 LEXMATCH -MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:closeMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016917 LEXMATCH -MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:closeMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016917 LEXMATCH -MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:closeMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262155 LEXMATCH -MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:closeMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262164 LEXMATCH -MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:closeMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20839 LEXMATCH -MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:closeMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016918 LEXMATCH -MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:closeMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016918 LEXMATCH -MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:closeMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262164 LEXMATCH -MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:closeMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262173 LEXMATCH -MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:closeMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20840 LEXMATCH -MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:closeMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016919 LEXMATCH -MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:closeMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016919 LEXMATCH -MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:closeMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262173 LEXMATCH -MONDO:0016921 partial duplication of chromosome 1 skos:closeMatch Orphanet:262191 Partial duplication of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20842 LEXMATCH -MONDO:0016921 partial duplication of chromosome 1 skos:closeMatch Orphanet:262191 Partial duplication of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016921 LEXMATCH -MONDO:0016921 partial duplication of chromosome 1 skos:closeMatch Orphanet:262191 Partial duplication of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016921 LEXMATCH -MONDO:0016922 partial duplication of chromosome 2 skos:closeMatch Orphanet:262196 Partial duplication of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20843 LEXMATCH -MONDO:0016922 partial duplication of chromosome 2 skos:closeMatch Orphanet:262196 Partial duplication of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016922 LEXMATCH -MONDO:0016922 partial duplication of chromosome 2 skos:closeMatch Orphanet:262196 Partial duplication of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016922 LEXMATCH -MONDO:0016923 partial duplication of chromosome 3 skos:closeMatch Orphanet:262201 Partial duplication of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20844 LEXMATCH -MONDO:0016923 partial duplication of chromosome 3 skos:closeMatch Orphanet:262201 Partial duplication of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016923 LEXMATCH -MONDO:0016923 partial duplication of chromosome 3 skos:closeMatch Orphanet:262201 Partial duplication of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016923 LEXMATCH -MONDO:0016924 partial duplication of chromosome 4 skos:closeMatch Orphanet:262206 Partial duplication of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20845 LEXMATCH -MONDO:0016924 partial duplication of chromosome 4 skos:closeMatch Orphanet:262206 Partial duplication of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016924 LEXMATCH -MONDO:0016924 partial duplication of chromosome 4 skos:closeMatch Orphanet:262206 Partial duplication of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016924 LEXMATCH -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:closeMatch Orphanet:262211 Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20846 LEXMATCH -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:closeMatch Orphanet:262211 Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016925 LEXMATCH -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:closeMatch Orphanet:262211 Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016925 LEXMATCH -MONDO:0016927 partial duplication of chromosome 6 skos:closeMatch Orphanet:262628 Partial duplication of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20847 LEXMATCH -MONDO:0016927 partial duplication of chromosome 6 skos:closeMatch Orphanet:262628 Partial duplication of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016927 LEXMATCH -MONDO:0016927 partial duplication of chromosome 6 skos:closeMatch Orphanet:262628 Partial duplication of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016927 LEXMATCH -MONDO:0016928 partial duplication of chromosome 7 skos:closeMatch Orphanet:262633 Partial duplication of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20848 LEXMATCH -MONDO:0016928 partial duplication of chromosome 7 skos:closeMatch Orphanet:262633 Partial duplication of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016928 LEXMATCH -MONDO:0016928 partial duplication of chromosome 7 skos:closeMatch Orphanet:262633 Partial duplication of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016928 LEXMATCH -MONDO:0016929 partial duplication of chromosome 8 skos:closeMatch Orphanet:262638 Partial duplication of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20849 LEXMATCH -MONDO:0016929 partial duplication of chromosome 8 skos:closeMatch Orphanet:262638 Partial duplication of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016929 LEXMATCH -MONDO:0016929 partial duplication of chromosome 8 skos:closeMatch Orphanet:262638 Partial duplication of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016929 LEXMATCH -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:closeMatch Orphanet:262643 Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20850 LEXMATCH -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:closeMatch Orphanet:262643 Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016930 LEXMATCH -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:closeMatch Orphanet:262643 Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016930 LEXMATCH -MONDO:0016931 partial duplication of chromosome 10 skos:closeMatch Orphanet:262648 Partial duplication of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20851 LEXMATCH -MONDO:0016931 partial duplication of chromosome 10 skos:closeMatch Orphanet:262648 Partial duplication of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016931 LEXMATCH -MONDO:0016931 partial duplication of chromosome 10 skos:closeMatch Orphanet:262648 Partial duplication of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016931 LEXMATCH -MONDO:0016932 partial duplication of chromosome 11 skos:closeMatch Orphanet:262653 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262653 LEXMATCH -MONDO:0016932 partial duplication of chromosome 11 skos:closeMatch Orphanet:262653 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20852 LEXMATCH -MONDO:0016932 partial duplication of chromosome 11 skos:closeMatch Orphanet:262653 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016932 LEXMATCH -MONDO:0016932 partial duplication of chromosome 11 skos:closeMatch Orphanet:262653 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016932 LEXMATCH -MONDO:0016932 partial duplication of chromosome 11 skos:closeMatch Orphanet:262653 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262653 LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:closeMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20853 LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:closeMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016933 LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:closeMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016933 LEXMATCH -MONDO:0016934 partial duplication of chromosome 16 skos:closeMatch Orphanet:262672 Partial duplication of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20854 LEXMATCH -MONDO:0016934 partial duplication of chromosome 16 skos:closeMatch Orphanet:262672 Partial duplication of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016934 LEXMATCH -MONDO:0016934 partial duplication of chromosome 16 skos:closeMatch Orphanet:262672 Partial duplication of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016934 LEXMATCH -MONDO:0016935 partial duplication of chromosome 17 skos:closeMatch Orphanet:262677 Partial duplication of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20855 LEXMATCH -MONDO:0016935 partial duplication of chromosome 17 skos:closeMatch Orphanet:262677 Partial duplication of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016935 LEXMATCH -MONDO:0016935 partial duplication of chromosome 17 skos:closeMatch Orphanet:262677 Partial duplication of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016935 LEXMATCH -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:closeMatch Orphanet:262682 Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20856 LEXMATCH -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:closeMatch Orphanet:262682 Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016936 LEXMATCH -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:closeMatch Orphanet:262682 Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016936 LEXMATCH -MONDO:0016937 partial duplication of chromosome 19 skos:closeMatch Orphanet:262687 Partial duplication of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20857 LEXMATCH -MONDO:0016937 partial duplication of chromosome 19 skos:closeMatch Orphanet:262687 Partial duplication of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016937 LEXMATCH -MONDO:0016937 partial duplication of chromosome 19 skos:closeMatch Orphanet:262687 Partial duplication of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016937 LEXMATCH -MONDO:0016938 partial trisomy of chromosome 20 skos:closeMatch Orphanet:262692 Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20858 LEXMATCH -MONDO:0016938 partial trisomy of chromosome 20 skos:closeMatch Orphanet:262692 Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016938 LEXMATCH -MONDO:0016938 partial trisomy of chromosome 20 skos:closeMatch Orphanet:262692 Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016938 LEXMATCH -MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:closeMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262698 LEXMATCH -MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:closeMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20859 LEXMATCH -MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:closeMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016939 LEXMATCH -MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:closeMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016939 LEXMATCH -MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:closeMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262698 LEXMATCH -MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:closeMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262707 LEXMATCH -MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:closeMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20860 LEXMATCH -MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:closeMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016940 LEXMATCH -MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:closeMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016940 LEXMATCH -MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:closeMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262707 LEXMATCH -MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:closeMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262716 LEXMATCH -MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:closeMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20861 LEXMATCH -MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:closeMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016941 LEXMATCH -MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:closeMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016941 LEXMATCH -MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:closeMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262716 LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:closeMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20862 LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:closeMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016942 LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:closeMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016942 LEXMATCH -MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:closeMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262740 LEXMATCH -MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:closeMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20863 LEXMATCH -MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:closeMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016943 LEXMATCH -MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:closeMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016943 LEXMATCH -MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:closeMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262740 LEXMATCH -MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:closeMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262749 LEXMATCH -MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:closeMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20864 LEXMATCH -MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:closeMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016944 LEXMATCH -MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:closeMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016944 LEXMATCH -MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:closeMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262749 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262758 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20865 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016945 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016945 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262758 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication 8p LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy 8p LEXMATCH -MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:closeMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262776 LEXMATCH -MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:closeMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20867 LEXMATCH -MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:closeMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016947 LEXMATCH -MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:closeMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016947 LEXMATCH -MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:closeMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262776 LEXMATCH -MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:closeMatch Orphanet:262785 Partial duplication of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20868 LEXMATCH -MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:closeMatch Orphanet:262785 Partial duplication of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016948 LEXMATCH -MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:closeMatch Orphanet:262785 Partial duplication of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016948 LEXMATCH -MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:closeMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262794 LEXMATCH -MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:closeMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20869 LEXMATCH -MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:closeMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016949 LEXMATCH -MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:closeMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016949 LEXMATCH -MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:closeMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262794 LEXMATCH -MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:closeMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262803 LEXMATCH -MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:closeMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20870 LEXMATCH -MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:closeMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016950 LEXMATCH -MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:closeMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016950 LEXMATCH -MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:closeMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262803 LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:closeMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20871 LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:closeMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016951 LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:closeMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016951 LEXMATCH -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262833 LEXMATCH -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20872 LEXMATCH -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016952 LEXMATCH -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016952 LEXMATCH -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262833 LEXMATCH -MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:closeMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262842 LEXMATCH -MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:closeMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20873 LEXMATCH -MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:closeMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016953 LEXMATCH -MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:closeMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016953 LEXMATCH -MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:closeMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262842 LEXMATCH -MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:closeMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262851 LEXMATCH -MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:closeMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20874 LEXMATCH -MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:closeMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016954 LEXMATCH -MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:closeMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016954 LEXMATCH -MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:closeMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262851 LEXMATCH -MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:closeMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262860 LEXMATCH -MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:closeMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20875 LEXMATCH -MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:closeMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016955 LEXMATCH -MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:closeMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016955 LEXMATCH -MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:closeMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262860 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:closeMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262869 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:closeMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20876 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:closeMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016956 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:closeMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016956 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:closeMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262869 LEXMATCH -MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:closeMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262878 LEXMATCH -MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:closeMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20877 LEXMATCH -MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:closeMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016957 LEXMATCH -MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:closeMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016957 LEXMATCH -MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:closeMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262878 LEXMATCH -MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:closeMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262887 LEXMATCH -MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:closeMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20878 LEXMATCH -MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:closeMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016958 LEXMATCH -MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:closeMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016958 LEXMATCH -MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:closeMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262887 LEXMATCH -MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:closeMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262896 LEXMATCH -MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:closeMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20879 LEXMATCH -MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:closeMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016959 LEXMATCH -MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:closeMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016959 LEXMATCH -MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:closeMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262896 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262905 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20880 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016960 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016960 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:closeMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262905 LEXMATCH -MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:closeMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262914 LEXMATCH -MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:closeMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20881 LEXMATCH -MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:closeMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016961 LEXMATCH -MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:closeMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016961 LEXMATCH -MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:closeMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262914 LEXMATCH -MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:closeMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262941 LEXMATCH -MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:closeMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20884 LEXMATCH -MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:closeMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016964 LEXMATCH -MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:closeMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016964 LEXMATCH -MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:closeMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262941 LEXMATCH -MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:closeMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262950 LEXMATCH -MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:closeMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20885 LEXMATCH -MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:closeMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016965 LEXMATCH -MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:closeMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016965 LEXMATCH -MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:closeMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262950 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:closeMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262959 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:closeMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20886 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:closeMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016966 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:closeMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016966 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:closeMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262959 LEXMATCH -MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:closeMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262968 LEXMATCH -MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:closeMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20887 LEXMATCH -MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:closeMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016967 LEXMATCH -MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:closeMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016967 LEXMATCH -MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:closeMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262968 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:closeMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262977 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:closeMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20888 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:closeMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016968 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:closeMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016968 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:closeMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262977 LEXMATCH -MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:closeMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262986 LEXMATCH -MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:closeMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20889 LEXMATCH -MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:closeMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016969 LEXMATCH -MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:closeMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016969 LEXMATCH -MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:closeMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262986 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:closeMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262995 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:closeMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20890 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:closeMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016970 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:closeMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016970 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:closeMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262995 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049288 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0686353 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6907 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016971 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016971 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263 LEXMATCH -MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:closeMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263004 LEXMATCH -MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:closeMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20891 LEXMATCH -MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:closeMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016972 LEXMATCH -MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:closeMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016972 LEXMATCH -MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:closeMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263004 LEXMATCH -MONDO:0016974 thymoma type B skos:closeMatch Orphanet:263317 Thymoma type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263317 LEXMATCH -MONDO:0016974 thymoma type B skos:closeMatch Orphanet:263317 Thymoma type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20893 LEXMATCH -MONDO:0016974 thymoma type B skos:closeMatch Orphanet:263317 Thymoma type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016974 LEXMATCH -MONDO:0016974 thymoma type B skos:closeMatch Orphanet:263317 Thymoma type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016974 LEXMATCH -MONDO:0016974 thymoma type B skos:closeMatch Orphanet:263317 Thymoma type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263317 LEXMATCH -MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266092 LEXMATCH -MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263324 LEXMATCH -MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20894 LEXMATCH -MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016975 LEXMATCH -MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016975 LEXMATCH -MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263324 LEXMATCH -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263331 LEXMATCH -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20895 LEXMATCH -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016976 LEXMATCH -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016976 LEXMATCH -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263331 LEXMATCH -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263335 LEXMATCH -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20896 LEXMATCH -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016977 LEXMATCH -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016977 LEXMATCH -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263335 LEXMATCH -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263339 LEXMATCH -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20897 LEXMATCH -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016978 LEXMATCH -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016978 LEXMATCH -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:closeMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263339 LEXMATCH -MONDO:0016979 MRCS syndrome skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263347 LEXMATCH -MONDO:0016979 MRCS syndrome skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17255 LEXMATCH -MONDO:0016979 MRCS syndrome skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016979 LEXMATCH -MONDO:0016979 MRCS syndrome skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016979 LEXMATCH -MONDO:0016979 MRCS syndrome skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263347 LEXMATCH -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263410 LEXMATCH -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20899 LEXMATCH -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome LEXMATCH -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016981 LEXMATCH -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016981 LEXMATCH -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263410 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002476 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018923 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263413 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20900 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016982 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016982 LEXMATCH -MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263413 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051713 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027961 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263425 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20901 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016984 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016984 LEXMATCH -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263425 LEXMATCH -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 LEXMATCH -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263432 LEXMATCH -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10830 LEXMATCH -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016985 LEXMATCH -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016985 LEXMATCH -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263432 LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406819 LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263435 LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20902 LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016986 LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016986 LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263435 LEXMATCH -MONDO:0016987 neuroacanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263440 LEXMATCH -MONDO:0016987 neuroacanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10902 LEXMATCH -MONDO:0016987 neuroacanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016987 LEXMATCH -MONDO:0016987 neuroacanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016987 LEXMATCH -MONDO:0016987 neuroacanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263440 LEXMATCH -MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:closeMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263455 LEXMATCH -MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:closeMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20903 LEXMATCH -MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:closeMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016988 LEXMATCH -MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:closeMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016988 LEXMATCH -MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:closeMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263455 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017406 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016782 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263479 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6791 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016989 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016989 LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263479 LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392610 LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26348 LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:475 LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016990 LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016990 LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26348 LEXMATCH -MONDO:0016991 acute necrotizing encephalopathy of childhood skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263524 LEXMATCH -MONDO:0016991 acute necrotizing encephalopathy of childhood skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17257 LEXMATCH -MONDO:0016991 acute necrotizing encephalopathy of childhood skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016991 LEXMATCH -MONDO:0016991 acute necrotizing encephalopathy of childhood skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016991 LEXMATCH -MONDO:0016991 acute necrotizing encephalopathy of childhood skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263524 LEXMATCH -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2636 LEXMATCH -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5120 LEXMATCH -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016994 LEXMATCH -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016994 LEXMATCH -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2636 LEXMATCH -MONDO:0016995 familial multiple meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263662 LEXMATCH -MONDO:0016995 familial multiple meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17260 LEXMATCH -MONDO:0016995 familial multiple meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016995 LEXMATCH -MONDO:0016995 familial multiple meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016995 LEXMATCH -MONDO:0016995 familial multiple meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263662 LEXMATCH -MONDO:0016996 NK-cell enteropathy skos:closeMatch Orphanet:263665 NK-cell enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263665 LEXMATCH -MONDO:0016996 NK-cell enteropathy skos:closeMatch Orphanet:263665 NK-cell enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20905 LEXMATCH -MONDO:0016996 NK-cell enteropathy skos:closeMatch Orphanet:263665 NK-cell enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0016996 LEXMATCH -MONDO:0016996 NK-cell enteropathy skos:closeMatch Orphanet:263665 NK-cell enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0016996 LEXMATCH -MONDO:0016996 NK-cell enteropathy skos:closeMatch Orphanet:263665 NK-cell enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263665 LEXMATCH -MONDO:0017003 partial deletion of chromosome X skos:closeMatch Orphanet:263726 Partial deletion of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20911 LEXMATCH -MONDO:0017003 partial deletion of chromosome X skos:closeMatch Orphanet:263726 Partial deletion of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017003 LEXMATCH -MONDO:0017003 partial deletion of chromosome X skos:closeMatch Orphanet:263726 Partial deletion of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017003 LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:closeMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20912 LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:closeMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017004 LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:closeMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017004 LEXMATCH -MONDO:0017007 partial deletion of the long arm of chromosome X skos:closeMatch Orphanet:263756 Partial deletion of the long arm of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20915 LEXMATCH -MONDO:0017007 partial deletion of the long arm of chromosome X skos:closeMatch Orphanet:263756 Partial deletion of the long arm of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017007 LEXMATCH -MONDO:0017007 partial deletion of the long arm of chromosome X skos:closeMatch Orphanet:263756 Partial deletion of the long arm of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017007 LEXMATCH -MONDO:0017008 partial duplication of chromosome X skos:closeMatch Orphanet:263768 Partial duplication of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20916 LEXMATCH -MONDO:0017008 partial duplication of chromosome X skos:closeMatch Orphanet:263768 Partial duplication of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017008 LEXMATCH -MONDO:0017008 partial duplication of chromosome X skos:closeMatch Orphanet:263768 Partial duplication of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017008 LEXMATCH -MONDO:0017009 partial duplication of the short arm of chromosome X skos:closeMatch Orphanet:263775 Partial duplication of the short arm of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12421 LEXMATCH -MONDO:0017009 partial duplication of the short arm of chromosome X skos:closeMatch Orphanet:263775 Partial duplication of the short arm of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017009 LEXMATCH -MONDO:0017009 partial duplication of the short arm of chromosome X skos:closeMatch Orphanet:263775 Partial duplication of the short arm of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017009 LEXMATCH -MONDO:0017010 partial duplication of the long arm of chromosome X skos:closeMatch Orphanet:263783 Partial duplication of the long arm of chromosome X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20917 LEXMATCH -MONDO:0017010 partial duplication of the long arm of chromosome X skos:closeMatch Orphanet:263783 Partial duplication of the long arm of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017010 LEXMATCH -MONDO:0017010 partial duplication of the long arm of chromosome X skos:closeMatch Orphanet:263783 Partial duplication of the long arm of chromosome X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017010 LEXMATCH -MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:closeMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264431 LEXMATCH -MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:closeMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20919 LEXMATCH -MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:closeMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017012 LEXMATCH -MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:closeMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017012 LEXMATCH -MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:closeMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264431 LEXMATCH -MONDO:0017013 trisomy 8p skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264450 LEXMATCH -MONDO:0017013 trisomy 8p skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20920 LEXMATCH -MONDO:0017013 trisomy 8p skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017013 LEXMATCH -MONDO:0017013 trisomy 8p skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017013 LEXMATCH -MONDO:0017013 trisomy 8p skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264450 LEXMATCH -MONDO:0017014 interstitial lung disease specific to childhood skos:closeMatch Orphanet:264656 Interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20921 LEXMATCH -MONDO:0017014 interstitial lung disease specific to childhood skos:closeMatch Orphanet:264656 Interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017014 LEXMATCH -MONDO:0017014 interstitial lung disease specific to childhood skos:closeMatch Orphanet:264656 Interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017014 LEXMATCH -MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264665 LEXMATCH -MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10559 LEXMATCH -MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017015 LEXMATCH -MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017015 LEXMATCH -MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264665 LEXMATCH -MONDO:0017018 isolated pulmonary capillaritis skos:closeMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264691 LEXMATCH -MONDO:0017018 isolated pulmonary capillaritis skos:closeMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20924 LEXMATCH -MONDO:0017018 isolated pulmonary capillaritis skos:closeMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017018 LEXMATCH -MONDO:0017018 isolated pulmonary capillaritis skos:closeMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017018 LEXMATCH -MONDO:0017018 isolated pulmonary capillaritis skos:closeMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264691 LEXMATCH -MONDO:0017019 interstitial lung disease specific to infancy skos:closeMatch Orphanet:264694 Interstitial lung disease specific to infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20925 LEXMATCH -MONDO:0017019 interstitial lung disease specific to infancy skos:closeMatch Orphanet:264694 Interstitial lung disease specific to infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017019 LEXMATCH -MONDO:0017019 interstitial lung disease specific to infancy skos:closeMatch Orphanet:264694 Interstitial lung disease specific to infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017019 LEXMATCH -MONDO:0017026 interstitial lung disease specific to adulthood skos:closeMatch Orphanet:264735 Interstitial lung disease specific to adulthood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20931 LEXMATCH -MONDO:0017026 interstitial lung disease specific to adulthood skos:closeMatch Orphanet:264735 Interstitial lung disease specific to adulthood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017026 LEXMATCH -MONDO:0017026 interstitial lung disease specific to adulthood skos:closeMatch Orphanet:264735 Interstitial lung disease specific to adulthood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017026 LEXMATCH -MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:closeMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264978 LEXMATCH -MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:closeMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20942 LEXMATCH -MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:closeMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017039 LEXMATCH -MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:closeMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017039 LEXMATCH -MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:closeMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264978 LEXMATCH -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2653 LEXMATCH -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18776 LEXMATCH -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017041 LEXMATCH -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017041 LEXMATCH -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2653 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049808 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039743 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2655 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:85 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017042 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017042 LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2655 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070665 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332965 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2665 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1493 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017043 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017043 LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2665 LEXMATCH -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:closeMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2666 LEXMATCH -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:closeMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18777 LEXMATCH -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:closeMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017044 LEXMATCH -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:closeMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017044 LEXMATCH -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:closeMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2666 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037138 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033822 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:26790 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7488 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017048 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017048 LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:26790 LEXMATCH -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2680 LEXMATCH -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16604 LEXMATCH -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017049 LEXMATCH -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017049 LEXMATCH -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2680 LEXMATCH -MONDO:0017050 intraocular medulloepithelioma skos:closeMatch Orphanet:268139 Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268139 LEXMATCH -MONDO:0017050 intraocular medulloepithelioma skos:closeMatch Orphanet:268139 Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20945 LEXMATCH -MONDO:0017050 intraocular medulloepithelioma skos:closeMatch Orphanet:268139 Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017050 LEXMATCH -MONDO:0017050 intraocular medulloepithelioma skos:closeMatch Orphanet:268139 Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017050 LEXMATCH -MONDO:0017050 intraocular medulloepithelioma skos:closeMatch Orphanet:268139 Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268139 LEXMATCH -MONDO:0017051 classic maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268145 LEXMATCH -MONDO:0017051 classic maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17263 LEXMATCH -MONDO:0017051 classic maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017051 LEXMATCH -MONDO:0017051 classic maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017051 LEXMATCH -MONDO:0017051 classic maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268145 LEXMATCH -MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268162 LEXMATCH -MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17264 LEXMATCH -MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017052 LEXMATCH -MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017052 LEXMATCH -MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268162 LEXMATCH -MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268173 LEXMATCH -MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17265 LEXMATCH -MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017053 LEXMATCH -MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017053 LEXMATCH -MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268173 LEXMATCH -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268184 LEXMATCH -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17266 LEXMATCH -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017054 LEXMATCH -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017054 LEXMATCH -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268184 LEXMATCH -MONDO:0017055 mycophenolate mofetil embryopathy skos:closeMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268249 LEXMATCH -MONDO:0017055 mycophenolate mofetil embryopathy skos:closeMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20946 LEXMATCH -MONDO:0017055 mycophenolate mofetil embryopathy skos:closeMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017055 LEXMATCH -MONDO:0017055 mycophenolate mofetil embryopathy skos:closeMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017055 LEXMATCH -MONDO:0017055 mycophenolate mofetil embryopathy skos:closeMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268249 LEXMATCH -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:closeMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268261 LEXMATCH -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:closeMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20947 LEXMATCH -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:closeMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017056 LEXMATCH -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:closeMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017056 LEXMATCH -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:closeMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268261 LEXMATCH -MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12452 LEXMATCH -MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017058 LEXMATCH -MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017058 LEXMATCH -MONDO:0017060 open iniencephaly skos:closeMatch Orphanet:268363 Open iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268363 LEXMATCH -MONDO:0017060 open iniencephaly skos:closeMatch Orphanet:268363 Open iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20949 LEXMATCH -MONDO:0017060 open iniencephaly skos:closeMatch Orphanet:268363 Open iniencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017060 LEXMATCH -MONDO:0017060 open iniencephaly skos:closeMatch Orphanet:268363 Open iniencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017060 LEXMATCH -MONDO:0017060 open iniencephaly skos:closeMatch Orphanet:268363 Open iniencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268363 LEXMATCH -MONDO:0017061 closed iniencephaly skos:closeMatch Orphanet:268366 Closed iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268366 LEXMATCH -MONDO:0017061 closed iniencephaly skos:closeMatch Orphanet:268366 Closed iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20950 LEXMATCH -MONDO:0017061 closed iniencephaly skos:closeMatch Orphanet:268366 Closed iniencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017061 LEXMATCH -MONDO:0017061 closed iniencephaly skos:closeMatch Orphanet:268366 Closed iniencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017061 LEXMATCH -MONDO:0017061 closed iniencephaly skos:closeMatch Orphanet:268366 Closed iniencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268366 LEXMATCH -MONDO:0017062 spina bifida aperta skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268369 LEXMATCH -MONDO:0017062 spina bifida aperta skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20951 LEXMATCH -MONDO:0017062 spina bifida aperta skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017062 LEXMATCH -MONDO:0017062 spina bifida aperta skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017062 LEXMATCH -MONDO:0017062 spina bifida aperta skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268369 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym open spina bifida LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida aperta LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071011 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268744 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20958 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017069 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017069 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268744 LEXMATCH -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelomeningocele LEXMATCH -MONDO:0017076 posterior meningocele skos:closeMatch Orphanet:268810 Isolated posterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268810 LEXMATCH -MONDO:0017076 posterior meningocele skos:closeMatch Orphanet:268810 Isolated posterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20965 LEXMATCH -MONDO:0017076 posterior meningocele skos:closeMatch Orphanet:268810 Isolated posterior meningocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017076 LEXMATCH -MONDO:0017076 posterior meningocele skos:closeMatch Orphanet:268810 Isolated posterior meningocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017076 LEXMATCH -MONDO:0017076 posterior meningocele skos:closeMatch Orphanet:268810 Isolated posterior meningocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268810 LEXMATCH -MONDO:0017077 myelocystocele skos:closeMatch Orphanet:268813 Myelocystocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268813 LEXMATCH -MONDO:0017077 myelocystocele skos:closeMatch Orphanet:268813 Myelocystocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20966 LEXMATCH -MONDO:0017077 myelocystocele skos:closeMatch Orphanet:268813 Myelocystocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017077 LEXMATCH -MONDO:0017077 myelocystocele skos:closeMatch Orphanet:268813 Myelocystocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017077 LEXMATCH -MONDO:0017077 myelocystocele skos:closeMatch Orphanet:268813 Myelocystocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268813 LEXMATCH -MONDO:0017078 cephalocele skos:closeMatch Orphanet:268817 Cephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268817 LEXMATCH -MONDO:0017078 cephalocele skos:closeMatch Orphanet:268817 Cephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20967 LEXMATCH -MONDO:0017078 cephalocele skos:closeMatch Orphanet:268817 Cephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017078 LEXMATCH -MONDO:0017078 cephalocele skos:closeMatch Orphanet:268817 Cephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017078 LEXMATCH -MONDO:0017078 cephalocele skos:closeMatch Orphanet:268817 Cephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268817 LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009694 LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268820 LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20968 LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017079 LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017079 LEXMATCH -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268820 LEXMATCH -MONDO:0017080 occipital encephalocele skos:closeMatch Orphanet:268823 Occipital encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268823 LEXMATCH -MONDO:0017080 occipital encephalocele skos:closeMatch Orphanet:268823 Occipital encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20969 LEXMATCH -MONDO:0017080 occipital encephalocele skos:closeMatch Orphanet:268823 Occipital encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017080 LEXMATCH -MONDO:0017080 occipital encephalocele skos:closeMatch Orphanet:268823 Occipital encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017080 LEXMATCH -MONDO:0017080 occipital encephalocele skos:closeMatch Orphanet:268823 Occipital encephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268823 LEXMATCH -MONDO:0017081 parietal encephalocele skos:closeMatch Orphanet:268826 Parietal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268826 LEXMATCH -MONDO:0017081 parietal encephalocele skos:closeMatch Orphanet:268826 Parietal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20970 LEXMATCH -MONDO:0017081 parietal encephalocele skos:closeMatch Orphanet:268826 Parietal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017081 LEXMATCH -MONDO:0017081 parietal encephalocele skos:closeMatch Orphanet:268826 Parietal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017081 LEXMATCH -MONDO:0017081 parietal encephalocele skos:closeMatch Orphanet:268826 Parietal encephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268826 LEXMATCH -MONDO:0017082 basal encephalocele skos:closeMatch Orphanet:268829 Basal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268829 LEXMATCH -MONDO:0017082 basal encephalocele skos:closeMatch Orphanet:268829 Basal encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20971 LEXMATCH -MONDO:0017082 basal encephalocele skos:closeMatch Orphanet:268829 Basal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017082 LEXMATCH -MONDO:0017082 basal encephalocele skos:closeMatch Orphanet:268829 Basal encephalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017082 LEXMATCH -MONDO:0017082 basal encephalocele skos:closeMatch Orphanet:268829 Basal encephalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268829 LEXMATCH -MONDO:0017086 primary tethered cord syndrome skos:closeMatch Orphanet:268861 Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268861 LEXMATCH -MONDO:0017086 primary tethered cord syndrome skos:closeMatch Orphanet:268861 Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4018 LEXMATCH -MONDO:0017086 primary tethered cord syndrome skos:closeMatch Orphanet:268861 Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017086 LEXMATCH -MONDO:0017086 primary tethered cord syndrome skos:closeMatch Orphanet:268861 Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017086 LEXMATCH -MONDO:0017086 primary tethered cord syndrome skos:closeMatch Orphanet:268861 Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268861 LEXMATCH -MONDO:0017087 neurenteric cyst skos:closeMatch Orphanet:268865 Neurenteric cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268865 LEXMATCH -MONDO:0017087 neurenteric cyst skos:closeMatch Orphanet:268865 Neurenteric cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20975 LEXMATCH -MONDO:0017087 neurenteric cyst skos:closeMatch Orphanet:268865 Neurenteric cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017087 LEXMATCH -MONDO:0017087 neurenteric cyst skos:closeMatch Orphanet:268865 Neurenteric cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017087 LEXMATCH -MONDO:0017087 neurenteric cyst skos:closeMatch Orphanet:268865 Neurenteric cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268865 LEXMATCH -MONDO:0017088 isolated amyelia skos:closeMatch Orphanet:268868 Isolated amyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268868 LEXMATCH -MONDO:0017088 isolated amyelia skos:closeMatch Orphanet:268868 Isolated amyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20976 LEXMATCH -MONDO:0017088 isolated amyelia skos:closeMatch Orphanet:268868 Isolated amyelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017088 LEXMATCH -MONDO:0017088 isolated amyelia skos:closeMatch Orphanet:268868 Isolated amyelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017088 LEXMATCH -MONDO:0017088 isolated amyelia skos:closeMatch Orphanet:268868 Isolated amyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268868 LEXMATCH -MONDO:0017089 isolated megalencephaly skos:closeMatch Orphanet:268920 Isolated megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268920 LEXMATCH -MONDO:0017089 isolated megalencephaly skos:closeMatch Orphanet:268920 Isolated megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20977 LEXMATCH -MONDO:0017089 isolated megalencephaly skos:closeMatch Orphanet:268920 Isolated megalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017089 LEXMATCH -MONDO:0017089 isolated megalencephaly skos:closeMatch Orphanet:268920 Isolated megalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017089 LEXMATCH -MONDO:0017089 isolated megalencephaly skos:closeMatch Orphanet:268920 Isolated megalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268920 LEXMATCH -MONDO:0017091 bilateral polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268940 LEXMATCH -MONDO:0017091 bilateral polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17269 LEXMATCH -MONDO:0017091 bilateral polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017091 LEXMATCH -MONDO:0017091 bilateral polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017091 LEXMATCH -MONDO:0017091 bilateral polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268940 LEXMATCH -MONDO:0017092 unilateral polymicrogyria skos:closeMatch Orphanet:268943 Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268943 LEXMATCH -MONDO:0017092 unilateral polymicrogyria skos:closeMatch Orphanet:268943 Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20980 LEXMATCH -MONDO:0017092 unilateral polymicrogyria skos:closeMatch Orphanet:268943 Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017092 LEXMATCH -MONDO:0017092 unilateral polymicrogyria skos:closeMatch Orphanet:268943 Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017092 LEXMATCH -MONDO:0017092 unilateral polymicrogyria skos:closeMatch Orphanet:268943 Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268943 LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:closeMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268947 LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:closeMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20981 LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:closeMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017093 LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:closeMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017093 LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:closeMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268947 LEXMATCH -MONDO:0017094 cerebral cortical dysplasia skos:closeMatch Orphanet:268950 Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268950 LEXMATCH -MONDO:0017094 cerebral cortical dysplasia skos:closeMatch Orphanet:268950 Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20982 LEXMATCH -MONDO:0017094 cerebral cortical dysplasia skos:closeMatch Orphanet:268950 Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017094 LEXMATCH -MONDO:0017094 cerebral cortical dysplasia skos:closeMatch Orphanet:268950 Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017094 LEXMATCH -MONDO:0017094 cerebral cortical dysplasia skos:closeMatch Orphanet:268950 Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268950 LEXMATCH -MONDO:0017095 isolated focal cortical dysplasia type I skos:closeMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268961 LEXMATCH -MONDO:0017095 isolated focal cortical dysplasia type I skos:closeMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20983 LEXMATCH -MONDO:0017095 isolated focal cortical dysplasia type I skos:closeMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017095 LEXMATCH -MONDO:0017095 isolated focal cortical dysplasia type I skos:closeMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017095 LEXMATCH -MONDO:0017095 isolated focal cortical dysplasia type I skos:closeMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268961 LEXMATCH -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268973 LEXMATCH -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20984 LEXMATCH -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017096 LEXMATCH -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017096 LEXMATCH -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268973 LEXMATCH -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268980 LEXMATCH -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20985 LEXMATCH -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017097 LEXMATCH -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017097 LEXMATCH -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268980 LEXMATCH -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:268987 LEXMATCH -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20986 LEXMATCH -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017098 LEXMATCH -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017098 LEXMATCH -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:268987 LEXMATCH -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:closeMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2690 LEXMATCH -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:closeMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3982 LEXMATCH -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:closeMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017100 LEXMATCH -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:closeMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017100 LEXMATCH -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:closeMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2690 LEXMATCH -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269001 LEXMATCH -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17270 LEXMATCH -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017101 LEXMATCH -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017101 LEXMATCH -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269001 LEXMATCH -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269008 LEXMATCH -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17271 LEXMATCH -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017102 LEXMATCH -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017102 LEXMATCH -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269008 LEXMATCH -MONDO:0017103 encephaloclastic disorder skos:closeMatch Orphanet:269190 Encephaloclastic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269190 LEXMATCH -MONDO:0017103 encephaloclastic disorder skos:closeMatch Orphanet:269190 Encephaloclastic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20987 LEXMATCH -MONDO:0017103 encephaloclastic disorder skos:closeMatch Orphanet:269190 Encephaloclastic disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017103 LEXMATCH -MONDO:0017103 encephaloclastic disorder skos:closeMatch Orphanet:269190 Encephaloclastic disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017103 LEXMATCH -MONDO:0017103 encephaloclastic disorder skos:closeMatch Orphanet:269190 Encephaloclastic disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269190 LEXMATCH -MONDO:0017105 glioependymal/ependymal cyst skos:closeMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269197 LEXMATCH -MONDO:0017105 glioependymal/ependymal cyst skos:closeMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20989 LEXMATCH -MONDO:0017105 glioependymal/ependymal cyst skos:closeMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017105 LEXMATCH -MONDO:0017105 glioependymal/ependymal cyst skos:closeMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017105 LEXMATCH -MONDO:0017105 glioependymal/ependymal cyst skos:closeMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269197 LEXMATCH -MONDO:0017107 isolated cerebellar vermis agenesis skos:closeMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269203 LEXMATCH -MONDO:0017107 isolated cerebellar vermis agenesis skos:closeMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20990 LEXMATCH -MONDO:0017107 isolated cerebellar vermis agenesis skos:closeMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017107 LEXMATCH -MONDO:0017107 isolated cerebellar vermis agenesis skos:closeMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017107 LEXMATCH -MONDO:0017107 isolated cerebellar vermis agenesis skos:closeMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269203 LEXMATCH -MONDO:0017108 isolated total cerebellar vermis agenesis skos:closeMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269206 LEXMATCH -MONDO:0017108 isolated total cerebellar vermis agenesis skos:closeMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20991 LEXMATCH -MONDO:0017108 isolated total cerebellar vermis agenesis skos:closeMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017108 LEXMATCH -MONDO:0017108 isolated total cerebellar vermis agenesis skos:closeMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017108 LEXMATCH -MONDO:0017108 isolated total cerebellar vermis agenesis skos:closeMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269206 LEXMATCH -MONDO:0017109 isolated partial cerebellar vermis agenesis skos:closeMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269209 LEXMATCH -MONDO:0017109 isolated partial cerebellar vermis agenesis skos:closeMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20992 LEXMATCH -MONDO:0017109 isolated partial cerebellar vermis agenesis skos:closeMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017109 LEXMATCH -MONDO:0017109 isolated partial cerebellar vermis agenesis skos:closeMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017109 LEXMATCH -MONDO:0017109 isolated partial cerebellar vermis agenesis skos:closeMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269209 LEXMATCH -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:closeMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269212 LEXMATCH -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:closeMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20993 LEXMATCH -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:closeMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017110 LEXMATCH -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:closeMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017110 LEXMATCH -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:closeMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269212 LEXMATCH -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:closeMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269215 LEXMATCH -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:closeMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20994 LEXMATCH -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:closeMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017111 LEXMATCH -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:closeMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017111 LEXMATCH -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:closeMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269215 LEXMATCH -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269218 LEXMATCH -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20995 LEXMATCH -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017112 LEXMATCH -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017112 LEXMATCH -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269218 LEXMATCH -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269221 LEXMATCH -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20996 LEXMATCH -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017113 LEXMATCH -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017113 LEXMATCH -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:closeMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269221 LEXMATCH -MONDO:0017116 congenital communicating hydrocephalus skos:closeMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269505 LEXMATCH -MONDO:0017116 congenital communicating hydrocephalus skos:closeMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20998 LEXMATCH -MONDO:0017116 congenital communicating hydrocephalus skos:closeMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017116 LEXMATCH -MONDO:0017116 congenital communicating hydrocephalus skos:closeMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017116 LEXMATCH -MONDO:0017116 congenital communicating hydrocephalus skos:closeMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269505 LEXMATCH -MONDO:0017117 congenital non-communicating hydrocephalus skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:269510 LEXMATCH -MONDO:0017117 congenital non-communicating hydrocephalus skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17272 LEXMATCH -MONDO:0017117 congenital non-communicating hydrocephalus skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017117 LEXMATCH -MONDO:0017117 congenital non-communicating hydrocephalus skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017117 LEXMATCH -MONDO:0017117 congenital non-communicating hydrocephalus skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:269510 LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2697 LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:794 LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017123 LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017123 LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2697 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029502 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028271 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2700 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4001 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017124 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017124 LEXMATCH -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2700 LEXMATCH -MONDO:0017131 hereditary cardiac anomaly skos:closeMatch Orphanet:271853 Genetic cardiac anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21016 LEXMATCH -MONDO:0017131 hereditary cardiac anomaly skos:closeMatch Orphanet:271853 Genetic cardiac anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017131 LEXMATCH -MONDO:0017131 hereditary cardiac anomaly skos:closeMatch Orphanet:271853 Genetic cardiac anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017131 LEXMATCH -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:closeMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2722 LEXMATCH -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:closeMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4051 LEXMATCH -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:closeMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017134 LEXMATCH -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:closeMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017134 LEXMATCH -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:closeMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2722 LEXMATCH -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:closeMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2732 LEXMATCH -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:closeMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4070 LEXMATCH -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:closeMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017135 LEXMATCH -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:closeMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017135 LEXMATCH -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:closeMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2732 LEXMATCH -MONDO:0017136 omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2733 LEXMATCH -MONDO:0017136 omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16608 LEXMATCH -MONDO:0017136 omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017136 LEXMATCH -MONDO:0017136 omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017136 LEXMATCH -MONDO:0017136 omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2733 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039202 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029001 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2737 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7252 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017137 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017137 LEXMATCH -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2737 LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2745 LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:193 LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017138 LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017138 LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2745 LEXMATCH -MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:closeMatch Orphanet:2749 Oromandibular-limb hypogenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4116 LEXMATCH -MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:closeMatch Orphanet:2749 Oromandibular-limb hypogenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017139 LEXMATCH -MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:closeMatch Orphanet:2749 Oromandibular-limb hypogenesis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017139 LEXMATCH -MONDO:0017140 L1 syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275543 LEXMATCH -MONDO:0017140 L1 syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12524 LEXMATCH -MONDO:0017140 L1 syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017140 LEXMATCH -MONDO:0017140 L1 syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017140 LEXMATCH -MONDO:0017140 L1 syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275543 LEXMATCH -MONDO:0017145 beta-thalassemia and related diseases skos:closeMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275749 LEXMATCH -MONDO:0017145 beta-thalassemia and related diseases skos:closeMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21023 LEXMATCH -MONDO:0017145 beta-thalassemia and related diseases skos:closeMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017145 LEXMATCH -MONDO:0017145 beta-thalassemia and related diseases skos:closeMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017145 LEXMATCH -MONDO:0017145 beta-thalassemia and related diseases skos:closeMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275749 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065151 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275766 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21025 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017147 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017147 LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275766 LEXMATCH -MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275777 LEXMATCH -MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11914 LEXMATCH -MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017148 LEXMATCH -MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017148 LEXMATCH -MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275777 LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340544 LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275786 LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21026 LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017149 LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017149 LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275786 LEXMATCH -MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:closeMatch Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21034 LEXMATCH -MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:closeMatch Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017157 LEXMATCH -MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:closeMatch Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017157 LEXMATCH -MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275864 LEXMATCH -MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7392 LEXMATCH -MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017160 LEXMATCH -MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017160 LEXMATCH -MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275864 LEXMATCH -MONDO:0017161 frontotemporal dementia with motor neuron disease skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275872 LEXMATCH -MONDO:0017161 frontotemporal dementia with motor neuron disease skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17273 LEXMATCH -MONDO:0017161 frontotemporal dementia with motor neuron disease skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017161 LEXMATCH -MONDO:0017161 frontotemporal dementia with motor neuron disease skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017161 LEXMATCH -MONDO:0017161 frontotemporal dementia with motor neuron disease skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275872 LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2759 LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2989 LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imperforate oropharynx-costovertebral anomalies syndrome LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017162 LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017162 LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2759 LEXMATCH -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:closeMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:275944 LEXMATCH -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:closeMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21038 LEXMATCH -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:closeMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017164 LEXMATCH -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:closeMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017164 LEXMATCH -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:closeMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:275944 LEXMATCH -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:closeMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276066 LEXMATCH -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:closeMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21041 LEXMATCH -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:closeMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017165 LEXMATCH -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:closeMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017165 LEXMATCH -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:closeMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276066 LEXMATCH -MONDO:0017167 malignant epithelial tumor of salivary glands skos:closeMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276145 LEXMATCH -MONDO:0017167 malignant epithelial tumor of salivary glands skos:closeMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21043 LEXMATCH -MONDO:0017167 malignant epithelial tumor of salivary glands skos:closeMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017167 LEXMATCH -MONDO:0017167 malignant epithelial tumor of salivary glands skos:closeMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017167 LEXMATCH -MONDO:0017167 malignant epithelial tumor of salivary glands skos:closeMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276145 LEXMATCH -MONDO:0017168 benign epithelial tumor of salivary glands skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276148 LEXMATCH -MONDO:0017168 benign epithelial tumor of salivary glands skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17274 LEXMATCH -MONDO:0017168 benign epithelial tumor of salivary glands skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017168 LEXMATCH -MONDO:0017168 benign epithelial tumor of salivary glands skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017168 LEXMATCH -MONDO:0017168 benign epithelial tumor of salivary glands skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276148 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061299 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276161 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21044 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017169 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017169 LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276161 LEXMATCH -MONDO:0017170 idiopathic recurrent stupor skos:closeMatch Orphanet:276174 Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276174 LEXMATCH -MONDO:0017170 idiopathic recurrent stupor skos:closeMatch Orphanet:276174 Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21045 LEXMATCH -MONDO:0017170 idiopathic recurrent stupor skos:closeMatch Orphanet:276174 Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017170 LEXMATCH -MONDO:0017170 idiopathic recurrent stupor skos:closeMatch Orphanet:276174 Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017170 LEXMATCH -MONDO:0017170 idiopathic recurrent stupor skos:closeMatch Orphanet:276174 Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276174 LEXMATCH -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:closeMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276212 LEXMATCH -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:closeMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21046 LEXMATCH -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:closeMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017171 LEXMATCH -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:closeMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017171 LEXMATCH -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:closeMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276212 LEXMATCH -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:closeMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276223 LEXMATCH -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:closeMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21047 LEXMATCH -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:closeMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017172 LEXMATCH -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:closeMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017172 LEXMATCH -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:closeMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276223 LEXMATCH -MONDO:0017174 Machado-Joseph disease type 1 skos:closeMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276238 LEXMATCH -MONDO:0017174 Machado-Joseph disease type 1 skos:closeMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21048 LEXMATCH -MONDO:0017174 Machado-Joseph disease type 1 skos:closeMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017174 LEXMATCH -MONDO:0017174 Machado-Joseph disease type 1 skos:closeMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017174 LEXMATCH -MONDO:0017174 Machado-Joseph disease type 1 skos:closeMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276238 LEXMATCH -MONDO:0017175 Machado-Joseph disease type 2 skos:closeMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276241 LEXMATCH -MONDO:0017175 Machado-Joseph disease type 2 skos:closeMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21049 LEXMATCH -MONDO:0017175 Machado-Joseph disease type 2 skos:closeMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017175 LEXMATCH -MONDO:0017175 Machado-Joseph disease type 2 skos:closeMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017175 LEXMATCH -MONDO:0017175 Machado-Joseph disease type 2 skos:closeMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276241 LEXMATCH -MONDO:0017176 Machado-Joseph disease type 3 skos:closeMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276244 LEXMATCH -MONDO:0017176 Machado-Joseph disease type 3 skos:closeMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21050 LEXMATCH -MONDO:0017176 Machado-Joseph disease type 3 skos:closeMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017176 LEXMATCH -MONDO:0017176 Machado-Joseph disease type 3 skos:closeMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017176 LEXMATCH -MONDO:0017176 Machado-Joseph disease type 3 skos:closeMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276244 LEXMATCH -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:closeMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276280 LEXMATCH -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:closeMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21051 LEXMATCH -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:closeMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017177 LEXMATCH -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:closeMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017177 LEXMATCH -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:closeMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276280 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251262 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial osteochondritis dissecans LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans and short stature LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017178 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031231 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029421 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2764 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12703 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017178 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017178 LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2764 LEXMATCH -MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:closeMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276422 LEXMATCH -MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:closeMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21052 LEXMATCH -MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:closeMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017180 LEXMATCH -MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:closeMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017180 LEXMATCH -MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:closeMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276422 LEXMATCH -MONDO:0017181 hypnic headache skos:closeMatch Orphanet:276429 Hypnic headache semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276429 LEXMATCH -MONDO:0017181 hypnic headache skos:closeMatch Orphanet:276429 Hypnic headache semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10796 LEXMATCH -MONDO:0017181 hypnic headache skos:closeMatch Orphanet:276429 Hypnic headache semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017181 LEXMATCH -MONDO:0017181 hypnic headache skos:closeMatch Orphanet:276429 Hypnic headache semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017181 LEXMATCH -MONDO:0017181 hypnic headache skos:closeMatch Orphanet:276429 Hypnic headache semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276429 LEXMATCH -MONDO:0017182 familial hyperinsulinism skos:closeMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276525 LEXMATCH -MONDO:0017182 familial hyperinsulinism skos:closeMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21053 LEXMATCH -MONDO:0017182 familial hyperinsulinism skos:closeMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017182 LEXMATCH -MONDO:0017182 familial hyperinsulinism skos:closeMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017182 LEXMATCH -MONDO:0017182 familial hyperinsulinism skos:closeMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276525 LEXMATCH -MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:closeMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276556 LEXMATCH -MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:closeMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21054 LEXMATCH -MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:closeMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017183 LEXMATCH -MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:closeMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017183 LEXMATCH -MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:closeMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276556 LEXMATCH -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276575 LEXMATCH -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17283 LEXMATCH -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017184 LEXMATCH -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017184 LEXMATCH -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276575 LEXMATCH -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276580 LEXMATCH -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17284 LEXMATCH -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017185 LEXMATCH -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017185 LEXMATCH -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276580 LEXMATCH -MONDO:0017186 diazoxide-resistant hyperinsulinism skos:closeMatch Orphanet:276585 Diazoxide-resistant hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21055 LEXMATCH -MONDO:0017186 diazoxide-resistant hyperinsulinism skos:closeMatch Orphanet:276585 Diazoxide-resistant hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017186 LEXMATCH -MONDO:0017186 diazoxide-resistant hyperinsulinism skos:closeMatch Orphanet:276585 Diazoxide-resistant hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017186 LEXMATCH -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276598 LEXMATCH -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17285 LEXMATCH -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017187 LEXMATCH -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017187 LEXMATCH -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276598 LEXMATCH -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276603 LEXMATCH -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17286 LEXMATCH -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017188 LEXMATCH -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017188 LEXMATCH -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276603 LEXMATCH -MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276608 LEXMATCH -MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21056 LEXMATCH -MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017189 LEXMATCH -MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017189 LEXMATCH -MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia skos:closeMatch Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276608 LEXMATCH -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:closeMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276621 LEXMATCH -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:closeMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7385 LEXMATCH -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:closeMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017190 LEXMATCH -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:closeMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017190 LEXMATCH -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:closeMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276621 LEXMATCH -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:closeMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:276630 LEXMATCH -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:closeMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21057 LEXMATCH -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:closeMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017193 LEXMATCH -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:closeMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017193 LEXMATCH -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:closeMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:276630 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072255 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2768 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:916 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017194 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017194 LEXMATCH -MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2768 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063718 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432253 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2771 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1029 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017195 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017195 LEXMATCH -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2771 LEXMATCH -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:closeMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2773 LEXMATCH -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:closeMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:587 LEXMATCH -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:closeMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017196 LEXMATCH -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:closeMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017196 LEXMATCH -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:closeMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2773 LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931096 LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2779 LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5562 LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017197 LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017197 LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2779 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031280 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2781 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4155 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and related disorders LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017198 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017198 LEXMATCH -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2781 LEXMATCH -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:closeMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2787 LEXMATCH -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:closeMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18778 LEXMATCH -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:closeMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017199 LEXMATCH -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:closeMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017199 LEXMATCH -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:closeMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2787 LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931462 LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2795 LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2365 LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017200 LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017200 LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2795 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059593 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527306 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279882 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21058 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017201 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017201 LEXMATCH -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279882 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000730 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154773 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279888 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21059 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017202 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017202 LEXMATCH -MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279888 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008864 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154774 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279891 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21060 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017203 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017203 LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279891 LEXMATCH -MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:closeMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279894 LEXMATCH -MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:closeMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21061 LEXMATCH -MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:closeMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017204 LEXMATCH -MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:closeMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017204 LEXMATCH -MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:closeMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279894 LEXMATCH -MONDO:0017205 primary oculocerebral lymphoma skos:closeMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279897 LEXMATCH -MONDO:0017205 primary oculocerebral lymphoma skos:closeMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21062 LEXMATCH -MONDO:0017205 primary oculocerebral lymphoma skos:closeMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017205 LEXMATCH -MONDO:0017205 primary oculocerebral lymphoma skos:closeMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017205 LEXMATCH -MONDO:0017205 primary oculocerebral lymphoma skos:closeMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279897 LEXMATCH -MONDO:0017207 primary organ-specific lymphoma skos:closeMatch Orphanet:279911 Primary organ-specific lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21064 LEXMATCH -MONDO:0017207 primary organ-specific lymphoma skos:closeMatch Orphanet:279911 Primary organ-specific lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017207 LEXMATCH -MONDO:0017207 primary organ-specific lymphoma skos:closeMatch Orphanet:279911 Primary organ-specific lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017207 LEXMATCH -MONDO:0017209 infectious posterior uveitis skos:closeMatch Orphanet:279919 Infectious posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279919 LEXMATCH -MONDO:0017209 infectious posterior uveitis skos:closeMatch Orphanet:279919 Infectious posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21066 LEXMATCH -MONDO:0017209 infectious posterior uveitis skos:closeMatch Orphanet:279919 Infectious posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017209 LEXMATCH -MONDO:0017209 infectious posterior uveitis skos:closeMatch Orphanet:279919 Infectious posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017209 LEXMATCH -MONDO:0017209 infectious posterior uveitis skos:closeMatch Orphanet:279919 Infectious posterior uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279919 LEXMATCH -MONDO:0017210 infectious anterior uveitis skos:closeMatch Orphanet:279922 Infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279922 LEXMATCH -MONDO:0017210 infectious anterior uveitis skos:closeMatch Orphanet:279922 Infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21067 LEXMATCH -MONDO:0017210 infectious anterior uveitis skos:closeMatch Orphanet:279922 Infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017210 LEXMATCH -MONDO:0017210 infectious anterior uveitis skos:closeMatch Orphanet:279922 Infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017210 LEXMATCH -MONDO:0017210 infectious anterior uveitis skos:closeMatch Orphanet:279922 Infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279922 LEXMATCH -MONDO:0017211 infectious panuveitis skos:closeMatch Orphanet:279925 Infectious panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279925 LEXMATCH -MONDO:0017211 infectious panuveitis skos:closeMatch Orphanet:279925 Infectious panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21068 LEXMATCH -MONDO:0017211 infectious panuveitis skos:closeMatch Orphanet:279925 Infectious panuveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017211 LEXMATCH -MONDO:0017211 infectious panuveitis skos:closeMatch Orphanet:279925 Infectious panuveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017211 LEXMATCH -MONDO:0017211 infectious panuveitis skos:closeMatch Orphanet:279925 Infectious panuveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279925 LEXMATCH -MONDO:0017212 paraneoplastic uveitis skos:closeMatch Orphanet:279928 Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279928 LEXMATCH -MONDO:0017212 paraneoplastic uveitis skos:closeMatch Orphanet:279928 Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21069 LEXMATCH -MONDO:0017212 paraneoplastic uveitis skos:closeMatch Orphanet:279928 Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017212 LEXMATCH -MONDO:0017212 paraneoplastic uveitis skos:closeMatch Orphanet:279928 Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017212 LEXMATCH -MONDO:0017212 paraneoplastic uveitis skos:closeMatch Orphanet:279928 Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279928 LEXMATCH -MONDO:0017213 postorgasmic illness syndrome skos:closeMatch Orphanet:279947 Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:279947 LEXMATCH -MONDO:0017213 postorgasmic illness syndrome skos:closeMatch Orphanet:279947 Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10809 LEXMATCH -MONDO:0017213 postorgasmic illness syndrome skos:closeMatch Orphanet:279947 Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017213 LEXMATCH -MONDO:0017213 postorgasmic illness syndrome skos:closeMatch Orphanet:279947 Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017213 LEXMATCH -MONDO:0017213 postorgasmic illness syndrome skos:closeMatch Orphanet:279947 Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:279947 LEXMATCH -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:28 LEXMATCH -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12623 LEXMATCH -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017214 LEXMATCH -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017214 LEXMATCH -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:28 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051714 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006666 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280062 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5980 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017215 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017215 LEXMATCH -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280062 LEXMATCH -MONDO:0017216 calciphylaxis cutis skos:closeMatch Orphanet:280065 Calciphylaxis cutis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280065 LEXMATCH -MONDO:0017216 calciphylaxis cutis skos:closeMatch Orphanet:280065 Calciphylaxis cutis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21070 LEXMATCH -MONDO:0017216 calciphylaxis cutis skos:closeMatch Orphanet:280065 Calciphylaxis cutis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017216 LEXMATCH -MONDO:0017216 calciphylaxis cutis skos:closeMatch Orphanet:280065 Calciphylaxis cutis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017216 LEXMATCH -MONDO:0017216 calciphylaxis cutis skos:closeMatch Orphanet:280065 Calciphylaxis cutis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280065 LEXMATCH -MONDO:0017217 visceral calciphylaxis skos:closeMatch Orphanet:280068 Visceral calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280068 LEXMATCH -MONDO:0017217 visceral calciphylaxis skos:closeMatch Orphanet:280068 Visceral calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21071 LEXMATCH -MONDO:0017217 visceral calciphylaxis skos:closeMatch Orphanet:280068 Visceral calciphylaxis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017217 LEXMATCH -MONDO:0017217 visceral calciphylaxis skos:closeMatch Orphanet:280068 Visceral calciphylaxis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017217 LEXMATCH -MONDO:0017217 visceral calciphylaxis skos:closeMatch Orphanet:280068 Visceral calciphylaxis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280068 LEXMATCH -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280200 LEXMATCH -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17290 LEXMATCH -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017219 LEXMATCH -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017219 LEXMATCH -MONDO:0017219 microform holoprosencephaly skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280200 LEXMATCH -MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:closeMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280205 LEXMATCH -MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:closeMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21072 LEXMATCH -MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:closeMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017220 LEXMATCH -MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:closeMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017220 LEXMATCH -MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:closeMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280205 LEXMATCH -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280210 LEXMATCH -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17291 LEXMATCH -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017221 LEXMATCH -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017221 LEXMATCH -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280210 LEXMATCH -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:closeMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280219 LEXMATCH -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:closeMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21073 LEXMATCH -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:closeMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017222 LEXMATCH -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:closeMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017222 LEXMATCH -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:closeMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280219 LEXMATCH -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:closeMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280224 LEXMATCH -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:closeMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21074 LEXMATCH -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:closeMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017223 LEXMATCH -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:closeMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017223 LEXMATCH -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:closeMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280224 LEXMATCH -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:closeMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280229 LEXMATCH -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:closeMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21075 LEXMATCH -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:closeMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017224 LEXMATCH -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:closeMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017224 LEXMATCH -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:closeMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280229 LEXMATCH -MONDO:0017225 null syndrome skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280234 LEXMATCH -MONDO:0017225 null syndrome skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17292 LEXMATCH -MONDO:0017225 null syndrome skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017225 LEXMATCH -MONDO:0017225 null syndrome skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017225 LEXMATCH -MONDO:0017225 null syndrome skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280234 LEXMATCH -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280270 LEXMATCH -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12300 LEXMATCH -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017226 LEXMATCH -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017226 LEXMATCH -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280270 LEXMATCH -MONDO:0017227 autoimmune pancreatitis type 1 skos:closeMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280302 LEXMATCH -MONDO:0017227 autoimmune pancreatitis type 1 skos:closeMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21076 LEXMATCH -MONDO:0017227 autoimmune pancreatitis type 1 skos:closeMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017227 LEXMATCH -MONDO:0017227 autoimmune pancreatitis type 1 skos:closeMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017227 LEXMATCH -MONDO:0017227 autoimmune pancreatitis type 1 skos:closeMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280302 LEXMATCH -MONDO:0017228 autoimmune pancreatitis type 2 skos:closeMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280315 LEXMATCH -MONDO:0017228 autoimmune pancreatitis type 2 skos:closeMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21077 LEXMATCH -MONDO:0017228 autoimmune pancreatitis type 2 skos:closeMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017228 LEXMATCH -MONDO:0017228 autoimmune pancreatitis type 2 skos:closeMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017228 LEXMATCH -MONDO:0017228 autoimmune pancreatitis type 2 skos:closeMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280315 LEXMATCH -MONDO:0017229 distal monosomy 12p skos:closeMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280325 LEXMATCH -MONDO:0017229 distal monosomy 12p skos:closeMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21078 LEXMATCH -MONDO:0017229 distal monosomy 12p skos:closeMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017229 LEXMATCH -MONDO:0017229 distal monosomy 12p skos:closeMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017229 LEXMATCH -MONDO:0017229 distal monosomy 12p skos:closeMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280325 LEXMATCH -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:closeMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280365 LEXMATCH -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:closeMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21080 LEXMATCH -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:closeMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017230 LEXMATCH -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:closeMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017230 LEXMATCH -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:closeMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280365 LEXMATCH -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:closeMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280379 LEXMATCH -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:closeMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10948 LEXMATCH -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:closeMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017231 LEXMATCH -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:closeMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017231 LEXMATCH -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:closeMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280379 LEXMATCH -MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:closeMatch Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21083 LEXMATCH -MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:closeMatch Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017232 LEXMATCH -MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:closeMatch Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017232 LEXMATCH -MONDO:0017233 familial Alzheimer-like prion disease skos:closeMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280397 LEXMATCH -MONDO:0017233 familial Alzheimer-like prion disease skos:closeMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21084 LEXMATCH -MONDO:0017233 familial Alzheimer-like prion disease skos:closeMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017233 LEXMATCH -MONDO:0017233 familial Alzheimer-like prion disease skos:closeMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017233 LEXMATCH -MONDO:0017233 familial Alzheimer-like prion disease skos:closeMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280397 LEXMATCH -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:closeMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280403 LEXMATCH -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:closeMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21086 LEXMATCH -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:closeMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017235 LEXMATCH -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:closeMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017235 LEXMATCH -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:closeMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280403 LEXMATCH -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280598 LEXMATCH -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11010 LEXMATCH -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017237 LEXMATCH -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017237 LEXMATCH -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280598 LEXMATCH -MONDO:0017238 hemoglobinopathy Toms River skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280615 LEXMATCH -MONDO:0017238 hemoglobinopathy Toms River skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17297 LEXMATCH -MONDO:0017238 hemoglobinopathy Toms River skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017238 LEXMATCH -MONDO:0017238 hemoglobinopathy Toms River skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017238 LEXMATCH -MONDO:0017238 hemoglobinopathy Toms River skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280615 LEXMATCH -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280628 LEXMATCH -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17298 LEXMATCH -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017239 LEXMATCH -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017239 LEXMATCH -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280628 LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4305323 LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280779 LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12428 LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017242 LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017242 LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280779 LEXMATCH -MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280785 LEXMATCH -MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21088 LEXMATCH -MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017243 LEXMATCH -MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017243 LEXMATCH -MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280785 LEXMATCH -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280794 LEXMATCH -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21089 LEXMATCH -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017244 LEXMATCH -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017244 LEXMATCH -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:closeMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280794 LEXMATCH -MONDO:0017245 intralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280802 LEXMATCH -MONDO:0017245 intralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21090 LEXMATCH -MONDO:0017245 intralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017245 LEXMATCH -MONDO:0017245 intralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017245 LEXMATCH -MONDO:0017245 intralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280802 LEXMATCH -MONDO:0017246 extralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280811 LEXMATCH -MONDO:0017246 extralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21091 LEXMATCH -MONDO:0017246 extralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017246 LEXMATCH -MONDO:0017246 extralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017246 LEXMATCH -MONDO:0017246 extralobar congenital pulmonary sequestration skos:closeMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280811 LEXMATCH -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:closeMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280821 LEXMATCH -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:closeMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21092 LEXMATCH -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:closeMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017247 LEXMATCH -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:closeMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017247 LEXMATCH -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:closeMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280821 LEXMATCH -MONDO:0017248 congenital pulmonary airway malformation type 0 skos:closeMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280827 LEXMATCH -MONDO:0017248 congenital pulmonary airway malformation type 0 skos:closeMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21093 LEXMATCH -MONDO:0017248 congenital pulmonary airway malformation type 0 skos:closeMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017248 LEXMATCH -MONDO:0017248 congenital pulmonary airway malformation type 0 skos:closeMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017248 LEXMATCH -MONDO:0017248 congenital pulmonary airway malformation type 0 skos:closeMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280827 LEXMATCH -MONDO:0017249 congenital pulmonary airway malformation type 1 skos:closeMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280832 LEXMATCH -MONDO:0017249 congenital pulmonary airway malformation type 1 skos:closeMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21094 LEXMATCH -MONDO:0017249 congenital pulmonary airway malformation type 1 skos:closeMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017249 LEXMATCH -MONDO:0017249 congenital pulmonary airway malformation type 1 skos:closeMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017249 LEXMATCH -MONDO:0017249 congenital pulmonary airway malformation type 1 skos:closeMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280832 LEXMATCH -MONDO:0017250 congenital pulmonary airway malformation type 2 skos:closeMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280840 LEXMATCH -MONDO:0017250 congenital pulmonary airway malformation type 2 skos:closeMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21095 LEXMATCH -MONDO:0017250 congenital pulmonary airway malformation type 2 skos:closeMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017250 LEXMATCH -MONDO:0017250 congenital pulmonary airway malformation type 2 skos:closeMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017250 LEXMATCH -MONDO:0017250 congenital pulmonary airway malformation type 2 skos:closeMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280840 LEXMATCH -MONDO:0017251 congenital pulmonary airway malformation type 3 skos:closeMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280847 LEXMATCH -MONDO:0017251 congenital pulmonary airway malformation type 3 skos:closeMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21096 LEXMATCH -MONDO:0017251 congenital pulmonary airway malformation type 3 skos:closeMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017251 LEXMATCH -MONDO:0017251 congenital pulmonary airway malformation type 3 skos:closeMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017251 LEXMATCH -MONDO:0017251 congenital pulmonary airway malformation type 3 skos:closeMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280847 LEXMATCH -MONDO:0017252 congenital pulmonary airway malformation type 4 skos:closeMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280854 LEXMATCH -MONDO:0017252 congenital pulmonary airway malformation type 4 skos:closeMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21097 LEXMATCH -MONDO:0017252 congenital pulmonary airway malformation type 4 skos:closeMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017252 LEXMATCH -MONDO:0017252 congenital pulmonary airway malformation type 4 skos:closeMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017252 LEXMATCH -MONDO:0017252 congenital pulmonary airway malformation type 4 skos:closeMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280854 LEXMATCH -MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033687 LEXMATCH -MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280898 LEXMATCH -MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8577 LEXMATCH -MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017255 LEXMATCH -MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017255 LEXMATCH -MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280898 LEXMATCH -MONDO:0017257 idiopathic posterior uveitis skos:closeMatch Orphanet:280917 Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280917 LEXMATCH -MONDO:0017257 idiopathic posterior uveitis skos:closeMatch Orphanet:280917 Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21099 LEXMATCH -MONDO:0017257 idiopathic posterior uveitis skos:closeMatch Orphanet:280917 Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017257 LEXMATCH -MONDO:0017257 idiopathic posterior uveitis skos:closeMatch Orphanet:280917 Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017257 LEXMATCH -MONDO:0017257 idiopathic posterior uveitis skos:closeMatch Orphanet:280917 Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280917 LEXMATCH -MONDO:0017258 idiopathic panuveitis skos:closeMatch Orphanet:280921 Idiopathic panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:280921 LEXMATCH -MONDO:0017258 idiopathic panuveitis skos:closeMatch Orphanet:280921 Idiopathic panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21100 LEXMATCH -MONDO:0017258 idiopathic panuveitis skos:closeMatch Orphanet:280921 Idiopathic panuveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017258 LEXMATCH -MONDO:0017258 idiopathic panuveitis skos:closeMatch Orphanet:280921 Idiopathic panuveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017258 LEXMATCH -MONDO:0017258 idiopathic panuveitis skos:closeMatch Orphanet:280921 Idiopathic panuveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:280921 LEXMATCH -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281090 LEXMATCH -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17302 LEXMATCH -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017264 LEXMATCH -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017264 LEXMATCH -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281090 LEXMATCH -MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281097 LEXMATCH -MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21106 LEXMATCH -MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017265 LEXMATCH -MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017265 LEXMATCH -MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281097 LEXMATCH -MONDO:0017266 keratinopathic ichthyosis skos:closeMatch Orphanet:281103 Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281103 LEXMATCH -MONDO:0017266 keratinopathic ichthyosis skos:closeMatch Orphanet:281103 Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21107 LEXMATCH -MONDO:0017266 keratinopathic ichthyosis skos:closeMatch Orphanet:281103 Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017266 LEXMATCH -MONDO:0017266 keratinopathic ichthyosis skos:closeMatch Orphanet:281103 Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017266 LEXMATCH -MONDO:0017266 keratinopathic ichthyosis skos:closeMatch Orphanet:281103 Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281103 LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855789 LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281122 LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17303 LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label self-improving collodion baby LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017267 LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017267 LEXMATCH -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281122 LEXMATCH -MONDO:0017268 acral self-healing collodion baby skos:closeMatch Orphanet:281127 Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281127 LEXMATCH -MONDO:0017268 acral self-healing collodion baby skos:closeMatch Orphanet:281127 Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21108 LEXMATCH -MONDO:0017268 acral self-healing collodion baby skos:closeMatch Orphanet:281127 Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017268 LEXMATCH -MONDO:0017268 acral self-healing collodion baby skos:closeMatch Orphanet:281127 Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017268 LEXMATCH -MONDO:0017268 acral self-healing collodion baby skos:closeMatch Orphanet:281127 Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281127 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:281210 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21109 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017269 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017269 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:281210 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931617 LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2819 LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:806 LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017275 LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017275 LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2819 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068968 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338451 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:282 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8436 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017276 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017276 LEXMATCH -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:282 LEXMATCH -MONDO:0017277 partial deletion of chromosome 12 skos:closeMatch Orphanet:282124 Partial deletion of chromosome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21115 LEXMATCH -MONDO:0017277 partial deletion of chromosome 12 skos:closeMatch Orphanet:282124 Partial deletion of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017277 LEXMATCH -MONDO:0017277 partial deletion of chromosome 12 skos:closeMatch Orphanet:282124 Partial deletion of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017277 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085409 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:282196 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21116 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017278 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017278 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:282196 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2828 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16610 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017279 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017279 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2828 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391411 LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017279 LEXMATCH -MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854478 LEXMATCH -MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:283 LEXMATCH -MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1802 LEXMATCH -MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017280 LEXMATCH -MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017280 LEXMATCH -MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:283 LEXMATCH -MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:closeMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2838 LEXMATCH -MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:closeMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4655 LEXMATCH -MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:closeMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017281 LEXMATCH -MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:closeMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017281 LEXMATCH -MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:closeMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2838 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053042 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948954 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:207 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym echinococcus multilocularis infection LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017282 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017282 LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284169 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17311 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017283 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017283 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284169 LEXMATCH -MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:closeMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284180 LEXMATCH -MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:closeMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21117 LEXMATCH -MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:closeMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017284 LEXMATCH -MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:closeMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017284 LEXMATCH -MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:closeMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284180 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067287 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868854 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2842 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4273 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017285 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017285 LEXMATCH -MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2842 LEXMATCH -MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854394 LEXMATCH -MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284227 LEXMATCH -MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10962 LEXMATCH -MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017286 LEXMATCH -MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017286 LEXMATCH -MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284227 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071569 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203653 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284264 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12521 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017287 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017287 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284264 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:596448 IgG4-related systemic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596448 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:596448 IgG4-related systemic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22391 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:596448 IgG4-related systemic disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017287 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:596448 IgG4-related systemic disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017287 LEXMATCH -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:596448 IgG4-related systemic disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596448 LEXMATCH -MONDO:0017289 fetal lung interstitial tumor skos:closeMatch Orphanet:284362 Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284362 LEXMATCH -MONDO:0017289 fetal lung interstitial tumor skos:closeMatch Orphanet:284362 Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21118 LEXMATCH -MONDO:0017289 fetal lung interstitial tumor skos:closeMatch Orphanet:284362 Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017289 LEXMATCH -MONDO:0017289 fetal lung interstitial tumor skos:closeMatch Orphanet:284362 Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017289 LEXMATCH -MONDO:0017289 fetal lung interstitial tumor skos:closeMatch Orphanet:284362 Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284362 LEXMATCH -MONDO:0017290 familial intrahepatic cholestasis skos:closeMatch Orphanet:284385 Familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21119 LEXMATCH -MONDO:0017290 familial intrahepatic cholestasis skos:closeMatch Orphanet:284385 Familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017290 LEXMATCH -MONDO:0017290 familial intrahepatic cholestasis skos:closeMatch Orphanet:284385 Familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017290 LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3544214 LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284388 LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12768 LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017291 LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017291 LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284388 LEXMATCH -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:closeMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284395 LEXMATCH -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:closeMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21120 LEXMATCH -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:closeMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017292 LEXMATCH -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:closeMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017292 LEXMATCH -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:closeMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284395 LEXMATCH -MONDO:0017295 glycerol kinase deficiency, juvenile form skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284411 LEXMATCH -MONDO:0017295 glycerol kinase deficiency, juvenile form skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17316 LEXMATCH -MONDO:0017295 glycerol kinase deficiency, juvenile form skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017295 LEXMATCH -MONDO:0017295 glycerol kinase deficiency, juvenile form skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017295 LEXMATCH -MONDO:0017295 glycerol kinase deficiency, juvenile form skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284411 LEXMATCH -MONDO:0017296 glycerol kinase deficiency, adult form skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284414 LEXMATCH -MONDO:0017296 glycerol kinase deficiency, adult form skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17317 LEXMATCH -MONDO:0017296 glycerol kinase deficiency, adult form skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017296 LEXMATCH -MONDO:0017296 glycerol kinase deficiency, adult form skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017296 LEXMATCH -MONDO:0017296 glycerol kinase deficiency, adult form skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284414 LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854437 LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284448 LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10779 LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017297 LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017297 LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284448 LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730298 LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284454 LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8640 LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017298 LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017298 LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284454 LEXMATCH -MONDO:0017299 acute annular outer retinopathy skos:closeMatch Orphanet:284460 Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284460 LEXMATCH -MONDO:0017299 acute annular outer retinopathy skos:closeMatch Orphanet:284460 Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21121 LEXMATCH -MONDO:0017299 acute annular outer retinopathy skos:closeMatch Orphanet:284460 Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017299 LEXMATCH -MONDO:0017299 acute annular outer retinopathy skos:closeMatch Orphanet:284460 Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017299 LEXMATCH -MONDO:0017299 acute annular outer retinopathy skos:closeMatch Orphanet:284460 Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284460 LEXMATCH -MONDO:0017300 congenital pericardium anomaly skos:closeMatch Orphanet:2846 Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2846 LEXMATCH -MONDO:0017300 congenital pericardium anomaly skos:closeMatch Orphanet:2846 Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18779 LEXMATCH -MONDO:0017300 congenital pericardium anomaly skos:closeMatch Orphanet:2846 Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017300 LEXMATCH -MONDO:0017300 congenital pericardium anomaly skos:closeMatch Orphanet:2846 Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017300 LEXMATCH -MONDO:0017300 congenital pericardium anomaly skos:closeMatch Orphanet:2846 Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2846 LEXMATCH -MONDO:0017301 pericardial and diaphragmatic defect skos:closeMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2847 LEXMATCH -MONDO:0017301 pericardial and diaphragmatic defect skos:closeMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18780 LEXMATCH -MONDO:0017301 pericardial and diaphragmatic defect skos:closeMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017301 LEXMATCH -MONDO:0017301 pericardial and diaphragmatic defect skos:closeMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017301 LEXMATCH -MONDO:0017301 pericardial and diaphragmatic defect skos:closeMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2847 LEXMATCH -MONDO:0017303 qualitative or quantitative defects of tropomyosin skos:closeMatch Orphanet:284790 Qualitative or quantitative defects of tropomyosin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21123 LEXMATCH -MONDO:0017303 qualitative or quantitative defects of tropomyosin skos:closeMatch Orphanet:284790 Qualitative or quantitative defects of tropomyosin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017303 LEXMATCH -MONDO:0017303 qualitative or quantitative defects of tropomyosin skos:closeMatch Orphanet:284790 Qualitative or quantitative defects of tropomyosin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017303 LEXMATCH -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065276 LEXMATCH -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284804 LEXMATCH -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21124 LEXMATCH -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017304 LEXMATCH -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017304 LEXMATCH -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284804 LEXMATCH -MONDO:0017305 syndromic oculocutaneous albinism skos:closeMatch Orphanet:284811 Syndromic oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21125 LEXMATCH -MONDO:0017305 syndromic oculocutaneous albinism skos:closeMatch Orphanet:284811 Syndromic oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017305 LEXMATCH -MONDO:0017305 syndromic oculocutaneous albinism skos:closeMatch Orphanet:284811 Syndromic oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017305 LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268461 LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284814 LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21126 LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017306 LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017306 LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284814 LEXMATCH -MONDO:0017307 disorder of tyrosine metabolism skos:closeMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284818 LEXMATCH -MONDO:0017307 disorder of tyrosine metabolism skos:closeMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21127 LEXMATCH -MONDO:0017307 disorder of tyrosine metabolism skos:closeMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017307 LEXMATCH -MONDO:0017307 disorder of tyrosine metabolism skos:closeMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017307 LEXMATCH -MONDO:0017307 disorder of tyrosine metabolism skos:closeMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284818 LEXMATCH -MONDO:0017309 neonatal Marfan syndrome skos:closeMatch Orphanet:284979 Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284979 LEXMATCH -MONDO:0017309 neonatal Marfan syndrome skos:closeMatch Orphanet:284979 Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21128 LEXMATCH -MONDO:0017309 neonatal Marfan syndrome skos:closeMatch Orphanet:284979 Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017309 LEXMATCH -MONDO:0017309 neonatal Marfan syndrome skos:closeMatch Orphanet:284979 Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017309 LEXMATCH -MONDO:0017309 neonatal Marfan syndrome skos:closeMatch Orphanet:284979 Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284979 LEXMATCH -MONDO:0017310 Marfan and Marfan-related disorder skos:closeMatch Orphanet:284993 Marfan syndrome and Marfan-related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21129 LEXMATCH -MONDO:0017310 Marfan and Marfan-related disorder skos:closeMatch Orphanet:284993 Marfan syndrome and Marfan-related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017310 LEXMATCH -MONDO:0017310 Marfan and Marfan-related disorder skos:closeMatch Orphanet:284993 Marfan syndrome and Marfan-related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017310 LEXMATCH -MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0685838 LEXMATCH -MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2855 LEXMATCH -MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2542 LEXMATCH -MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017312 LEXMATCH -MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017312 LEXMATCH -MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2855 LEXMATCH -MONDO:0017313 disorder of folate metabolism and transport skos:closeMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:285657 LEXMATCH -MONDO:0017313 disorder of folate metabolism and transport skos:closeMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21131 LEXMATCH -MONDO:0017313 disorder of folate metabolism and transport skos:closeMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017313 LEXMATCH -MONDO:0017313 disorder of folate metabolism and transport skos:closeMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017313 LEXMATCH -MONDO:0017313 disorder of folate metabolism and transport skos:closeMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:285657 LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:286 LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2082 LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular eds LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym veds LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017314 LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017314 LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:286 LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930950 LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2865 LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:583 LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017315 LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017315 LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2865 LEXMATCH -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:closeMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2866 LEXMATCH -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:closeMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4841 LEXMATCH -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:closeMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017316 LEXMATCH -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:closeMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017316 LEXMATCH -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:closeMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2866 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931658 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2874 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4311 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017317 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017317 LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2874 LEXMATCH -MONDO:0017318 phakomatosis pigmentovascularis skos:closeMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2875 LEXMATCH -MONDO:0017318 phakomatosis pigmentovascularis skos:closeMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4312 LEXMATCH -MONDO:0017318 phakomatosis pigmentovascularis skos:closeMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017318 LEXMATCH -MONDO:0017318 phakomatosis pigmentovascularis skos:closeMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017318 LEXMATCH -MONDO:0017318 phakomatosis pigmentovascularis skos:closeMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2875 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014490 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013902 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:288 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6621 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017319 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017319 LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:288 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268194 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2880 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16613 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017320 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017320 LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2880 LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2890 LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4364 LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017321 LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017321 LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2890 LEXMATCH -MONDO:0017322 disorders of vitamin D metabolism skos:closeMatch Orphanet:289098 Disorders of vitamin D metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21132 LEXMATCH -MONDO:0017322 disorders of vitamin D metabolism skos:closeMatch Orphanet:289098 Disorders of vitamin D metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017322 LEXMATCH -MONDO:0017322 disorders of vitamin D metabolism skos:closeMatch Orphanet:289098 Disorders of vitamin D metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017322 LEXMATCH -MONDO:0017323 hypocalcemic rickets skos:closeMatch Orphanet:289103 Hypocalcemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21133 LEXMATCH -MONDO:0017323 hypocalcemic rickets skos:closeMatch Orphanet:289103 Hypocalcemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017323 LEXMATCH -MONDO:0017323 hypocalcemic rickets skos:closeMatch Orphanet:289103 Hypocalcemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017323 LEXMATCH -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289176 LEXMATCH -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17320 LEXMATCH -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017324 LEXMATCH -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017324 LEXMATCH -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289176 LEXMATCH -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289266 LEXMATCH -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21134 LEXMATCH -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017325 LEXMATCH -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017325 LEXMATCH -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289266 LEXMATCH -MONDO:0017326 infective dermatitis associated with HTLV-1 skos:closeMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289347 LEXMATCH -MONDO:0017326 infective dermatitis associated with HTLV-1 skos:closeMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21135 LEXMATCH -MONDO:0017326 infective dermatitis associated with HTLV-1 skos:closeMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017326 LEXMATCH -MONDO:0017326 infective dermatitis associated with HTLV-1 skos:closeMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017326 LEXMATCH -MONDO:0017326 infective dermatitis associated with HTLV-1 skos:closeMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289347 LEXMATCH -MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:closeMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289356 LEXMATCH -MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:closeMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21136 LEXMATCH -MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:closeMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017327 LEXMATCH -MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:closeMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017327 LEXMATCH -MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:closeMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289356 LEXMATCH -MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:closeMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289362 LEXMATCH -MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:closeMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21137 LEXMATCH -MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:closeMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017328 LEXMATCH -MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:closeMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017328 LEXMATCH -MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:closeMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289362 LEXMATCH -MONDO:0017329 familial vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289365 LEXMATCH -MONDO:0017329 familial vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17323 LEXMATCH -MONDO:0017329 familial vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017329 LEXMATCH -MONDO:0017329 familial vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017329 LEXMATCH -MONDO:0017329 familial vesicoureteral reflux skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289365 LEXMATCH -MONDO:0017330 malignancy diagnosed during pregnancy skos:closeMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289385 LEXMATCH -MONDO:0017330 malignancy diagnosed during pregnancy skos:closeMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21138 LEXMATCH -MONDO:0017330 malignancy diagnosed during pregnancy skos:closeMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017330 LEXMATCH -MONDO:0017330 malignancy diagnosed during pregnancy skos:closeMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017330 LEXMATCH -MONDO:0017330 malignancy diagnosed during pregnancy skos:closeMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289385 LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:closeMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289478 LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:closeMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21139 LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:closeMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017332 LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:closeMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017332 LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:closeMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289478 LEXMATCH -MONDO:0017334 12q15q21.1 microdeletion syndrome skos:closeMatch Orphanet:289513 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289513 LEXMATCH -MONDO:0017334 12q15q21.1 microdeletion syndrome skos:closeMatch Orphanet:289513 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21141 LEXMATCH -MONDO:0017334 12q15q21.1 microdeletion syndrome skos:closeMatch Orphanet:289513 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017334 LEXMATCH -MONDO:0017334 12q15q21.1 microdeletion syndrome skos:closeMatch Orphanet:289513 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017334 LEXMATCH -MONDO:0017334 12q15q21.1 microdeletion syndrome skos:closeMatch Orphanet:289513 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289513 LEXMATCH -MONDO:0017335 microtriplication 11q24.1 skos:closeMatch Orphanet:289522 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289522 LEXMATCH -MONDO:0017335 microtriplication 11q24.1 skos:closeMatch Orphanet:289522 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21142 LEXMATCH -MONDO:0017335 microtriplication 11q24.1 skos:closeMatch Orphanet:289522 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017335 LEXMATCH -MONDO:0017335 microtriplication 11q24.1 skos:closeMatch Orphanet:289522 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017335 LEXMATCH -MONDO:0017335 microtriplication 11q24.1 skos:closeMatch Orphanet:289522 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289522 LEXMATCH -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:closeMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289548 LEXMATCH -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:closeMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21143 LEXMATCH -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:closeMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017337 LEXMATCH -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:closeMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017337 LEXMATCH -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:closeMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289548 LEXMATCH -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:closeMatch Orphanet:289573 Multiple mitochondrial dysfunctions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12632 LEXMATCH -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:closeMatch Orphanet:289573 Multiple mitochondrial dysfunctions syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017338 LEXMATCH -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:closeMatch Orphanet:289573 Multiple mitochondrial dysfunctions syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017338 LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838440 LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289586 LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17329 LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017339 LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017339 LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289586 LEXMATCH -MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:closeMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289596 LEXMATCH -MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:closeMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21144 LEXMATCH -MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:closeMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017340 LEXMATCH -MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:closeMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017340 LEXMATCH -MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:closeMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289596 LEXMATCH -MONDO:0017341 virus associated tumor skos:closeMatch Orphanet:289635 Rare virus associated tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21145 LEXMATCH -MONDO:0017341 virus associated tumor skos:closeMatch Orphanet:289635 Rare virus associated tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017341 LEXMATCH -MONDO:0017341 virus associated tumor skos:closeMatch Orphanet:289635 Rare virus associated tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017341 LEXMATCH -MONDO:0017342 Epstein-Barr virus-related tumor skos:closeMatch Orphanet:289638 Epstein-Barr Virus-related tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21146 LEXMATCH -MONDO:0017342 Epstein-Barr virus-related tumor skos:closeMatch Orphanet:289638 Epstein-Barr Virus-related tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017342 LEXMATCH -MONDO:0017342 Epstein-Barr virus-related tumor skos:closeMatch Orphanet:289638 Epstein-Barr Virus-related tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017342 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068349 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363744 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289644 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21147 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017343 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017343 LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289644 LEXMATCH -MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:closeMatch Orphanet:289651 Epstein-Barr Virus-associated carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21148 LEXMATCH -MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:closeMatch Orphanet:289651 Epstein-Barr Virus-associated carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017344 LEXMATCH -MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:closeMatch Orphanet:289651 Epstein-Barr Virus-associated carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017344 LEXMATCH -MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:closeMatch Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21149 LEXMATCH -MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:closeMatch Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017345 LEXMATCH -MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:closeMatch Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017345 LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289661 LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21150 LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017346 LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017346 LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289661 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065039 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3472614 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289666 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12125 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017347 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017347 LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289666 LEXMATCH -MONDO:0017348 lymphoepithelial-like carcinoma skos:closeMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289682 LEXMATCH -MONDO:0017348 lymphoepithelial-like carcinoma skos:closeMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21151 LEXMATCH -MONDO:0017348 lymphoepithelial-like carcinoma skos:closeMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017348 LEXMATCH -MONDO:0017348 lymphoepithelial-like carcinoma skos:closeMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017348 LEXMATCH -MONDO:0017348 lymphoepithelial-like carcinoma skos:closeMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289682 LEXMATCH -MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302808 LEXMATCH -MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289685 LEXMATCH -MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21152 LEXMATCH -MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017349 LEXMATCH -MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017349 LEXMATCH -MONDO:0017349 myopericytoma skos:closeMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289685 LEXMATCH -MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289829 LEXMATCH -MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21154 LEXMATCH -MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of tryptophan metabolism LEXMATCH -MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017350 LEXMATCH -MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017350 LEXMATCH -MONDO:0017350 inborn disorder of tryptophan metabolism skos:closeMatch Orphanet:289829 Disorder of tryptophan metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289829 LEXMATCH -MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289832 LEXMATCH -MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21155 LEXMATCH -MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of lysine and hydroxylysine metabolism LEXMATCH -MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017351 LEXMATCH -MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017351 LEXMATCH -MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeMatch Orphanet:289832 Disorder of lysine and hydroxylysine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289832 LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342669 LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289841 LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21156 LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017352 LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017352 LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289841 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289857 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17332 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017353 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017353 LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289857 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289860 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17333 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017354 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017354 LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289860 LEXMATCH -MONDO:0017355 inborn disorder of proline metabolism skos:closeMatch Orphanet:289866 Disorder of proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289866 LEXMATCH -MONDO:0017355 inborn disorder of proline metabolism skos:closeMatch Orphanet:289866 Disorder of proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21157 LEXMATCH -MONDO:0017355 inborn disorder of proline metabolism skos:closeMatch Orphanet:289866 Disorder of proline metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017355 LEXMATCH -MONDO:0017355 inborn disorder of proline metabolism skos:closeMatch Orphanet:289866 Disorder of proline metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017355 LEXMATCH -MONDO:0017355 inborn disorder of proline metabolism skos:closeMatch Orphanet:289866 Disorder of proline metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289866 LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342690 LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289869 LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21158 LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017356 LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017356 LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289869 LEXMATCH -MONDO:0017357 transient hyperammonemia of the newborn skos:closeMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289877 LEXMATCH -MONDO:0017357 transient hyperammonemia of the newborn skos:closeMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21159 LEXMATCH -MONDO:0017357 transient hyperammonemia of the newborn skos:closeMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017357 LEXMATCH -MONDO:0017357 transient hyperammonemia of the newborn skos:closeMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017357 LEXMATCH -MONDO:0017357 transient hyperammonemia of the newborn skos:closeMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289877 LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696376 LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289902 LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12966 LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017359 LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017359 LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289902 LEXMATCH -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289916 LEXMATCH -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17335 LEXMATCH -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017360 LEXMATCH -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017360 LEXMATCH -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289916 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010618 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035921 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:290 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4744 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017361 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017361 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:290 LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063020 LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2901 LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4228 LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017362 LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017362 LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2901 LEXMATCH -MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:closeMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2902 LEXMATCH -MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:closeMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1130 LEXMATCH -MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:closeMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017363 LEXMATCH -MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:closeMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017363 LEXMATCH -MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:closeMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2902 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053869 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2905 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7411 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017364 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017364 LEXMATCH -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2905 LEXMATCH -MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:closeMatch Orphanet:2907 Hereditary acrokeratotic poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2907 LEXMATCH -MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:closeMatch Orphanet:2907 Hereditary acrokeratotic poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18781 LEXMATCH -MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:closeMatch Orphanet:2907 Hereditary acrokeratotic poikiloderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017365 LEXMATCH -MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:closeMatch Orphanet:2907 Hereditary acrokeratotic poikiloderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017365 LEXMATCH -MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type skos:closeMatch Orphanet:2907 Hereditary acrokeratotic poikiloderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2907 LEXMATCH -MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:29072 LEXMATCH -MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11984 LEXMATCH -MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017366 LEXMATCH -MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017366 LEXMATCH -MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:29072 LEXMATCH -MONDO:0017372 congenital varicella syndrome skos:closeMatch Orphanet:291 Congenital varicella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:291 LEXMATCH -MONDO:0017372 congenital varicella syndrome skos:closeMatch Orphanet:291 Congenital varicella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:45 LEXMATCH -MONDO:0017372 congenital varicella syndrome skos:closeMatch Orphanet:291 Congenital varicella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017372 LEXMATCH -MONDO:0017372 congenital varicella syndrome skos:closeMatch Orphanet:291 Congenital varicella syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017372 LEXMATCH -MONDO:0017372 congenital varicella syndrome skos:closeMatch Orphanet:291 Congenital varicella syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:291 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036012 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032371 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2912 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7413 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017373 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017373 LEXMATCH -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2912 LEXMATCH -MONDO:0017375 congenital enterovirus infection skos:closeMatch Orphanet:292 Congenital enterovirus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:292 LEXMATCH -MONDO:0017375 congenital enterovirus infection skos:closeMatch Orphanet:292 Congenital enterovirus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2130 LEXMATCH -MONDO:0017375 congenital enterovirus infection skos:closeMatch Orphanet:292 Congenital enterovirus infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017375 LEXMATCH -MONDO:0017375 congenital enterovirus infection skos:closeMatch Orphanet:292 Congenital enterovirus infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017375 LEXMATCH -MONDO:0017375 congenital enterovirus infection skos:closeMatch Orphanet:292 Congenital enterovirus infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:292 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003267 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038294 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085435 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:29207 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5693 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017376 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017376 LEXMATCH -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:29207 LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931655 LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2921 LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4304 LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017377 LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017377 LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2921 LEXMATCH -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:closeMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2928 LEXMATCH -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:closeMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4424 LEXMATCH -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:closeMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017379 LEXMATCH -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:closeMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017379 LEXMATCH -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:closeMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2928 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345893 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2929 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3065 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017380 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017380 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174900 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2929 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174900 LEXMATCH -MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch Orphanet:293 Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293 LEXMATCH -MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch Orphanet:293 Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18687 LEXMATCH -MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch Orphanet:293 Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017381 LEXMATCH -MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch Orphanet:293 Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017381 LEXMATCH -MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch Orphanet:293 Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293 LEXMATCH -MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293144 LEXMATCH -MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17336 LEXMATCH -MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017382 LEXMATCH -MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017382 LEXMATCH -MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293144 LEXMATCH -MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293150 LEXMATCH -MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17337 LEXMATCH -MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017383 LEXMATCH -MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017383 LEXMATCH -MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293150 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048799 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877055 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293173 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21164 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017384 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017384 LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293173 LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293181 LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12919 LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017385 LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017385 LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293181 LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334480 LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293199 LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21165 LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017386 LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017386 LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293199 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015099 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205944 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293202 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10181 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017387 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017387 LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293202 LEXMATCH -MONDO:0017388 celiac trunk compression syndrome skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293208 LEXMATCH -MONDO:0017388 celiac trunk compression syndrome skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12308 LEXMATCH -MONDO:0017388 celiac trunk compression syndrome skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017388 LEXMATCH -MONDO:0017388 celiac trunk compression syndrome skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017388 LEXMATCH -MONDO:0017388 celiac trunk compression syndrome skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293208 LEXMATCH -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293284 LEXMATCH -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21166 LEXMATCH -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017389 LEXMATCH -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017389 LEXMATCH -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293284 LEXMATCH -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:closeMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293375 LEXMATCH -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:closeMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21167 LEXMATCH -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:closeMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017391 LEXMATCH -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:closeMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017391 LEXMATCH -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:closeMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293375 LEXMATCH -MONDO:0017392 pre-descemet corneal dystrophy skos:closeMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293462 LEXMATCH -MONDO:0017392 pre-descemet corneal dystrophy skos:closeMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21168 LEXMATCH -MONDO:0017392 pre-descemet corneal dystrophy skos:closeMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017392 LEXMATCH -MONDO:0017392 pre-descemet corneal dystrophy skos:closeMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017392 LEXMATCH -MONDO:0017392 pre-descemet corneal dystrophy skos:closeMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293462 LEXMATCH -MONDO:0017393 blepharophimosis - intellectual disability syndrome skos:closeMatch Orphanet:293642 Blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10892 LEXMATCH -MONDO:0017393 blepharophimosis - intellectual disability syndrome skos:closeMatch Orphanet:293642 Blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017393 LEXMATCH -MONDO:0017393 blepharophimosis - intellectual disability syndrome skos:closeMatch Orphanet:293642 Blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017393 LEXMATCH -MONDO:0017394 ketamine-induced biliary dilatation skos:closeMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293807 LEXMATCH -MONDO:0017394 ketamine-induced biliary dilatation skos:closeMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21169 LEXMATCH -MONDO:0017394 ketamine-induced biliary dilatation skos:closeMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017394 LEXMATCH -MONDO:0017394 ketamine-induced biliary dilatation skos:closeMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017394 LEXMATCH -MONDO:0017394 ketamine-induced biliary dilatation skos:closeMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293807 LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048796 LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293812 LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21170 LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017395 LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017395 LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293812 LEXMATCH -MONDO:0017396 toxic dermatosis skos:closeMatch Orphanet:293815 Toxic dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21171 LEXMATCH -MONDO:0017396 toxic dermatosis skos:closeMatch Orphanet:293815 Toxic dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017396 LEXMATCH -MONDO:0017396 toxic dermatosis skos:closeMatch Orphanet:293815 Toxic dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017396 LEXMATCH -MONDO:0017398 3MC syndrome skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293843 LEXMATCH -MONDO:0017398 3MC syndrome skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1118 LEXMATCH -MONDO:0017398 3MC syndrome skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017398 LEXMATCH -MONDO:0017398 3MC syndrome skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017398 LEXMATCH -MONDO:0017398 3MC syndrome skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293843 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615710 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748662 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293864 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5237 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615710 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017400 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017400 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615710 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293864 LEXMATCH -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615710 LEXMATCH -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293888 LEXMATCH -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17345 LEXMATCH -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017401 LEXMATCH -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017401 LEXMATCH -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293888 LEXMATCH -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293899 LEXMATCH -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17346 LEXMATCH -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017402 LEXMATCH -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017402 LEXMATCH -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293899 LEXMATCH -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293910 LEXMATCH -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17347 LEXMATCH -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017403 LEXMATCH -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017403 LEXMATCH -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293910 LEXMATCH -MONDO:0017404 distal Xq28 microduplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293939 LEXMATCH -MONDO:0017404 distal Xq28 microduplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17350 LEXMATCH -MONDO:0017404 distal Xq28 microduplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017404 LEXMATCH -MONDO:0017404 distal Xq28 microduplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017404 LEXMATCH -MONDO:0017404 distal Xq28 microduplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293939 LEXMATCH -MONDO:0017405 1p21.3 microdeletion syndrome skos:closeMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293948 LEXMATCH -MONDO:0017405 1p21.3 microdeletion syndrome skos:closeMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21173 LEXMATCH -MONDO:0017405 1p21.3 microdeletion syndrome skos:closeMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017405 LEXMATCH -MONDO:0017405 1p21.3 microdeletion syndrome skos:closeMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017405 LEXMATCH -MONDO:0017405 1p21.3 microdeletion syndrome skos:closeMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293948 LEXMATCH -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293967 LEXMATCH -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21174 LEXMATCH -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017406 LEXMATCH -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017406 LEXMATCH -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:closeMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293967 LEXMATCH -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293978 LEXMATCH -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17353 LEXMATCH -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017407 LEXMATCH -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017407 LEXMATCH -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293978 LEXMATCH -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:closeMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:293987 LEXMATCH -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:closeMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10407 LEXMATCH -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:closeMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017408 LEXMATCH -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:closeMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017408 LEXMATCH -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:closeMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:293987 LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349499 LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294 LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1480 LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017409 LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017409 LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294 LEXMATCH -MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036172 LEXMATCH -MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2940 LEXMATCH -MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7430 LEXMATCH -MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017410 LEXMATCH -MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017410 LEXMATCH -MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2940 LEXMATCH -MONDO:0017411 neonatal inflammatory skin and bowel disease skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294023 LEXMATCH -MONDO:0017411 neonatal inflammatory skin and bowel disease skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17355 LEXMATCH -MONDO:0017411 neonatal inflammatory skin and bowel disease skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017411 LEXMATCH -MONDO:0017411 neonatal inflammatory skin and bowel disease skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017411 LEXMATCH -MONDO:0017411 neonatal inflammatory skin and bowel disease skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294023 LEXMATCH -MONDO:0017415 multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294060 LEXMATCH -MONDO:0017415 multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21177 LEXMATCH -MONDO:0017415 multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017415 LEXMATCH -MONDO:0017415 multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017415 LEXMATCH -MONDO:0017415 multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294060 LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080040 LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2942 LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4454 LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017416 LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017416 LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:closeMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2942 LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673883 LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294415 LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17356 LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017417 LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017417 LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294415 LEXMATCH -MONDO:0017418 chronic intestinal failure skos:closeMatch Orphanet:294422 Chronic intestinal failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294422 LEXMATCH -MONDO:0017418 chronic intestinal failure skos:closeMatch Orphanet:294422 Chronic intestinal failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21178 LEXMATCH -MONDO:0017418 chronic intestinal failure skos:closeMatch Orphanet:294422 Chronic intestinal failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017418 LEXMATCH -MONDO:0017418 chronic intestinal failure skos:closeMatch Orphanet:294422 Chronic intestinal failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017418 LEXMATCH -MONDO:0017418 chronic intestinal failure skos:closeMatch Orphanet:294422 Chronic intestinal failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294422 LEXMATCH -MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001926 LEXMATCH -MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294925 LEXMATCH -MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21179 LEXMATCH -MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017419 LEXMATCH -MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017419 LEXMATCH -MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294925 LEXMATCH -MONDO:0017420 intercalary limb defects skos:closeMatch Orphanet:294927 Intercalary limb defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21180 LEXMATCH -MONDO:0017420 intercalary limb defects skos:closeMatch Orphanet:294927 Intercalary limb defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017420 LEXMATCH -MONDO:0017420 intercalary limb defects skos:closeMatch Orphanet:294927 Intercalary limb defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017420 LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024500 LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294944 LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21181 LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017427 LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017427 LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294944 LEXMATCH -MONDO:0017428 congenital deformities of fingers skos:closeMatch Orphanet:294947 Congenital deformities of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21182 LEXMATCH -MONDO:0017428 congenital deformities of fingers skos:closeMatch Orphanet:294947 Congenital deformities of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017428 LEXMATCH -MONDO:0017428 congenital deformities of fingers skos:closeMatch Orphanet:294947 Congenital deformities of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017428 LEXMATCH -MONDO:0017429 joint formation defects skos:closeMatch Orphanet:294949 Joint formation defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294949 LEXMATCH -MONDO:0017429 joint formation defects skos:closeMatch Orphanet:294949 Joint formation defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21183 LEXMATCH -MONDO:0017429 joint formation defects skos:closeMatch Orphanet:294949 Joint formation defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017429 LEXMATCH -MONDO:0017429 joint formation defects skos:closeMatch Orphanet:294949 Joint formation defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017429 LEXMATCH -MONDO:0017429 joint formation defects skos:closeMatch Orphanet:294949 Joint formation defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294949 LEXMATCH -MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21184 LEXMATCH -MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital joint dislocations LEXMATCH -MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017430 LEXMATCH -MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017430 LEXMATCH -MONDO:0017431 non-syndromic limb overgrowth skos:closeMatch Orphanet:294953 Non syndromic limb overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21185 LEXMATCH -MONDO:0017431 non-syndromic limb overgrowth skos:closeMatch Orphanet:294953 Non syndromic limb overgrowth semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017431 LEXMATCH -MONDO:0017431 non-syndromic limb overgrowth skos:closeMatch Orphanet:294953 Non syndromic limb overgrowth semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017431 LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265259 LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294963 LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21189 LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017435 LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017435 LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294963 LEXMATCH -MONDO:0017436 lethal congenital contracture syndrome skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12643 LEXMATCH -MONDO:0017436 lethal congenital contracture syndrome skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017436 LEXMATCH -MONDO:0017436 lethal congenital contracture syndrome skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017436 LEXMATCH -MONDO:0017437 amelia of upper limb skos:closeMatch Orphanet:294967 Amelia of upper limb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294967 LEXMATCH -MONDO:0017437 amelia of upper limb skos:closeMatch Orphanet:294967 Amelia of upper limb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21190 LEXMATCH -MONDO:0017437 amelia of upper limb skos:closeMatch Orphanet:294967 Amelia of upper limb semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017437 LEXMATCH -MONDO:0017437 amelia of upper limb skos:closeMatch Orphanet:294967 Amelia of upper limb semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017437 LEXMATCH -MONDO:0017437 amelia of upper limb skos:closeMatch Orphanet:294967 Amelia of upper limb semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294967 LEXMATCH -MONDO:0017438 amelia of lower limb skos:closeMatch Orphanet:294969 Amelia of lower limb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294969 LEXMATCH -MONDO:0017438 amelia of lower limb skos:closeMatch Orphanet:294969 Amelia of lower limb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21191 LEXMATCH -MONDO:0017438 amelia of lower limb skos:closeMatch Orphanet:294969 Amelia of lower limb semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017438 LEXMATCH -MONDO:0017438 amelia of lower limb skos:closeMatch Orphanet:294969 Amelia of lower limb semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017438 LEXMATCH -MONDO:0017438 amelia of lower limb skos:closeMatch Orphanet:294969 Amelia of lower limb semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294969 LEXMATCH -MONDO:0017439 tetra-amelia skos:closeMatch Orphanet:294971 Tetra-amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294971 LEXMATCH -MONDO:0017439 tetra-amelia skos:closeMatch Orphanet:294971 Tetra-amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5148 LEXMATCH -MONDO:0017439 tetra-amelia skos:closeMatch Orphanet:294971 Tetra-amelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017439 LEXMATCH -MONDO:0017439 tetra-amelia skos:closeMatch Orphanet:294971 Tetra-amelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017439 LEXMATCH -MONDO:0017439 tetra-amelia skos:closeMatch Orphanet:294971 Tetra-amelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294971 LEXMATCH -MONDO:0017440 humeral agenesis/hypoplasia skos:closeMatch Orphanet:294973 Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294973 LEXMATCH -MONDO:0017440 humeral agenesis/hypoplasia skos:closeMatch Orphanet:294973 Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21192 LEXMATCH -MONDO:0017440 humeral agenesis/hypoplasia skos:closeMatch Orphanet:294973 Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017440 LEXMATCH -MONDO:0017440 humeral agenesis/hypoplasia skos:closeMatch Orphanet:294973 Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017440 LEXMATCH -MONDO:0017440 humeral agenesis/hypoplasia skos:closeMatch Orphanet:294973 Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294973 LEXMATCH -MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:closeMatch Orphanet:294975 Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294975 LEXMATCH -MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:closeMatch Orphanet:294975 Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12123 LEXMATCH -MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:closeMatch Orphanet:294975 Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017441 LEXMATCH -MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:closeMatch Orphanet:294975 Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017441 LEXMATCH -MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:closeMatch Orphanet:294975 Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294975 LEXMATCH -MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:closeMatch Orphanet:294977 Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294977 LEXMATCH -MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:closeMatch Orphanet:294977 Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21193 LEXMATCH -MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:closeMatch Orphanet:294977 Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017442 LEXMATCH -MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:closeMatch Orphanet:294977 Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017442 LEXMATCH -MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:closeMatch Orphanet:294977 Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294977 LEXMATCH -MONDO:0017443 congenital absence of both forearm and hand skos:closeMatch Orphanet:294979 Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294979 LEXMATCH -MONDO:0017443 congenital absence of both forearm and hand skos:closeMatch Orphanet:294979 Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21194 LEXMATCH -MONDO:0017443 congenital absence of both forearm and hand skos:closeMatch Orphanet:294979 Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017443 LEXMATCH -MONDO:0017443 congenital absence of both forearm and hand skos:closeMatch Orphanet:294979 Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017443 LEXMATCH -MONDO:0017443 congenital absence of both forearm and hand skos:closeMatch Orphanet:294979 Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294979 LEXMATCH -MONDO:0017444 congenital absence of both lower leg and foot skos:closeMatch Orphanet:294981 Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294981 LEXMATCH -MONDO:0017444 congenital absence of both lower leg and foot skos:closeMatch Orphanet:294981 Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21195 LEXMATCH -MONDO:0017444 congenital absence of both lower leg and foot skos:closeMatch Orphanet:294981 Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017444 LEXMATCH -MONDO:0017444 congenital absence of both lower leg and foot skos:closeMatch Orphanet:294981 Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017444 LEXMATCH -MONDO:0017444 congenital absence of both lower leg and foot skos:closeMatch Orphanet:294981 Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294981 LEXMATCH -MONDO:0017445 acheiria skos:closeMatch Orphanet:294983 Acheiria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294983 LEXMATCH -MONDO:0017445 acheiria skos:closeMatch Orphanet:294983 Acheiria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21196 LEXMATCH -MONDO:0017445 acheiria skos:closeMatch Orphanet:294983 Acheiria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017445 LEXMATCH -MONDO:0017445 acheiria skos:closeMatch Orphanet:294983 Acheiria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017445 LEXMATCH -MONDO:0017445 acheiria skos:closeMatch Orphanet:294983 Acheiria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294983 LEXMATCH -MONDO:0017446 apodia skos:closeMatch Orphanet:294986 Apodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:294986 LEXMATCH -MONDO:0017446 apodia skos:closeMatch Orphanet:294986 Apodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21197 LEXMATCH -MONDO:0017446 apodia skos:closeMatch Orphanet:294986 Apodia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017446 LEXMATCH -MONDO:0017446 apodia skos:closeMatch Orphanet:294986 Apodia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017446 LEXMATCH -MONDO:0017446 apodia skos:closeMatch Orphanet:294986 Apodia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:294986 LEXMATCH -MONDO:0017453 fetal parvovirus syndrome skos:closeMatch Orphanet:295 Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295 LEXMATCH -MONDO:0017453 fetal parvovirus syndrome skos:closeMatch Orphanet:295 Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4236 LEXMATCH -MONDO:0017453 fetal parvovirus syndrome skos:closeMatch Orphanet:295 Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017453 LEXMATCH -MONDO:0017453 fetal parvovirus syndrome skos:closeMatch Orphanet:295 Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017453 LEXMATCH -MONDO:0017453 fetal parvovirus syndrome skos:closeMatch Orphanet:295 Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295 LEXMATCH -MONDO:0017455 hyperphalangy skos:closeMatch Orphanet:295002 Hyperphalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295002 LEXMATCH -MONDO:0017455 hyperphalangy skos:closeMatch Orphanet:295002 Hyperphalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21199 LEXMATCH -MONDO:0017455 hyperphalangy skos:closeMatch Orphanet:295002 Hyperphalangy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017455 LEXMATCH -MONDO:0017455 hyperphalangy skos:closeMatch Orphanet:295002 Hyperphalangy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017455 LEXMATCH -MONDO:0017455 hyperphalangy skos:closeMatch Orphanet:295002 Hyperphalangy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295002 LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295004 LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21200 LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central polydactyly LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017456 LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017456 LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295004 LEXMATCH -MONDO:0017460 syndactyly type 6 skos:closeMatch Orphanet:295012 Syndactyly type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295012 LEXMATCH -MONDO:0017460 syndactyly type 6 skos:closeMatch Orphanet:295012 Syndactyly type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21201 LEXMATCH -MONDO:0017460 syndactyly type 6 skos:closeMatch Orphanet:295012 Syndactyly type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017460 LEXMATCH -MONDO:0017460 syndactyly type 6 skos:closeMatch Orphanet:295012 Syndactyly type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017460 LEXMATCH -MONDO:0017460 syndactyly type 6 skos:closeMatch Orphanet:295012 Syndactyly type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295012 LEXMATCH -MONDO:0017461 familial isolated clinodactyly of fingers skos:closeMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295014 LEXMATCH -MONDO:0017461 familial isolated clinodactyly of fingers skos:closeMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21202 LEXMATCH -MONDO:0017461 familial isolated clinodactyly of fingers skos:closeMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017461 LEXMATCH -MONDO:0017461 familial isolated clinodactyly of fingers skos:closeMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017461 LEXMATCH -MONDO:0017461 familial isolated clinodactyly of fingers skos:closeMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295014 LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265661 LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295018 LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21203 LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017462 LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017462 LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295018 LEXMATCH -MONDO:0017463 congenital pseudoarthrosis of the femur skos:closeMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295020 LEXMATCH -MONDO:0017463 congenital pseudoarthrosis of the femur skos:closeMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21204 LEXMATCH -MONDO:0017463 congenital pseudoarthrosis of the femur skos:closeMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017463 LEXMATCH -MONDO:0017463 congenital pseudoarthrosis of the femur skos:closeMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017463 LEXMATCH -MONDO:0017463 congenital pseudoarthrosis of the femur skos:closeMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295020 LEXMATCH -MONDO:0017464 congenital pseudoarthrosis of the fibula skos:closeMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295022 LEXMATCH -MONDO:0017464 congenital pseudoarthrosis of the fibula skos:closeMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21205 LEXMATCH -MONDO:0017464 congenital pseudoarthrosis of the fibula skos:closeMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017464 LEXMATCH -MONDO:0017464 congenital pseudoarthrosis of the fibula skos:closeMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017464 LEXMATCH -MONDO:0017464 congenital pseudoarthrosis of the fibula skos:closeMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295022 LEXMATCH -MONDO:0017465 congenital pseudoarthrosis of the radius skos:closeMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295024 LEXMATCH -MONDO:0017465 congenital pseudoarthrosis of the radius skos:closeMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21206 LEXMATCH -MONDO:0017465 congenital pseudoarthrosis of the radius skos:closeMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017465 LEXMATCH -MONDO:0017465 congenital pseudoarthrosis of the radius skos:closeMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017465 LEXMATCH -MONDO:0017465 congenital pseudoarthrosis of the radius skos:closeMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295024 LEXMATCH -MONDO:0017466 congenital pseudoarthrosis of the ulna skos:closeMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295026 LEXMATCH -MONDO:0017466 congenital pseudoarthrosis of the ulna skos:closeMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21207 LEXMATCH -MONDO:0017466 congenital pseudoarthrosis of the ulna skos:closeMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017466 LEXMATCH -MONDO:0017466 congenital pseudoarthrosis of the ulna skos:closeMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017466 LEXMATCH -MONDO:0017466 congenital pseudoarthrosis of the ulna skos:closeMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295026 LEXMATCH -MONDO:0017467 tibio-fibular synostosis skos:closeMatch Orphanet:295028 Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295028 LEXMATCH -MONDO:0017467 tibio-fibular synostosis skos:closeMatch Orphanet:295028 Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21208 LEXMATCH -MONDO:0017467 tibio-fibular synostosis skos:closeMatch Orphanet:295028 Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017467 LEXMATCH -MONDO:0017467 tibio-fibular synostosis skos:closeMatch Orphanet:295028 Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017467 LEXMATCH -MONDO:0017467 tibio-fibular synostosis skos:closeMatch Orphanet:295028 Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295028 LEXMATCH -MONDO:0017468 congenital shoulder dislocation skos:closeMatch Orphanet:295030 True congenital shoulder dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295030 LEXMATCH -MONDO:0017468 congenital shoulder dislocation skos:closeMatch Orphanet:295030 True congenital shoulder dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21209 LEXMATCH -MONDO:0017468 congenital shoulder dislocation skos:closeMatch Orphanet:295030 True congenital shoulder dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017468 LEXMATCH -MONDO:0017468 congenital shoulder dislocation skos:closeMatch Orphanet:295030 True congenital shoulder dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017468 LEXMATCH -MONDO:0017468 congenital shoulder dislocation skos:closeMatch Orphanet:295030 True congenital shoulder dislocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295030 LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295032 LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21210 LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital radial head dislocation LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017469 LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017469 LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295032 LEXMATCH -MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010520 LEXMATCH -MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295034 LEXMATCH -MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21211 LEXMATCH -MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017470 LEXMATCH -MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017470 LEXMATCH -MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295034 LEXMATCH -MONDO:0017471 congenital patella dislocation skos:closeMatch Orphanet:295036 Congenital patella dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295036 LEXMATCH -MONDO:0017471 congenital patella dislocation skos:closeMatch Orphanet:295036 Congenital patella dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9692 LEXMATCH -MONDO:0017471 congenital patella dislocation skos:closeMatch Orphanet:295036 Congenital patella dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017471 LEXMATCH -MONDO:0017471 congenital patella dislocation skos:closeMatch Orphanet:295036 Congenital patella dislocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017471 LEXMATCH -MONDO:0017471 congenital patella dislocation skos:closeMatch Orphanet:295036 Congenital patella dislocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295036 LEXMATCH -MONDO:0017474 macrodactyly of fingers skos:closeMatch Orphanet:295044 Macrodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295044 LEXMATCH -MONDO:0017474 macrodactyly of fingers skos:closeMatch Orphanet:295044 Macrodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8529 LEXMATCH -MONDO:0017474 macrodactyly of fingers skos:closeMatch Orphanet:295044 Macrodactyly of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017474 LEXMATCH -MONDO:0017474 macrodactyly of fingers skos:closeMatch Orphanet:295044 Macrodactyly of fingers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017474 LEXMATCH -MONDO:0017474 macrodactyly of fingers skos:closeMatch Orphanet:295044 Macrodactyly of fingers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295044 LEXMATCH -MONDO:0017475 macrodactyly of toes skos:closeMatch Orphanet:295047 Macrodactyly of toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295047 LEXMATCH -MONDO:0017475 macrodactyly of toes skos:closeMatch Orphanet:295047 Macrodactyly of toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6951 LEXMATCH -MONDO:0017475 macrodactyly of toes skos:closeMatch Orphanet:295047 Macrodactyly of toes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017475 LEXMATCH -MONDO:0017475 macrodactyly of toes skos:closeMatch Orphanet:295047 Macrodactyly of toes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017475 LEXMATCH -MONDO:0017475 macrodactyly of toes skos:closeMatch Orphanet:295047 Macrodactyly of toes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295047 LEXMATCH -MONDO:0017476 upper limb hypertrophy skos:closeMatch Orphanet:295049 Upper limb hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295049 LEXMATCH -MONDO:0017476 upper limb hypertrophy skos:closeMatch Orphanet:295049 Upper limb hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21212 LEXMATCH -MONDO:0017476 upper limb hypertrophy skos:closeMatch Orphanet:295049 Upper limb hypertrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017476 LEXMATCH -MONDO:0017476 upper limb hypertrophy skos:closeMatch Orphanet:295049 Upper limb hypertrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017476 LEXMATCH -MONDO:0017476 upper limb hypertrophy skos:closeMatch Orphanet:295049 Upper limb hypertrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295049 LEXMATCH -MONDO:0017477 lower limb hypertrophy skos:closeMatch Orphanet:295051 Lower limb hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295051 LEXMATCH -MONDO:0017477 lower limb hypertrophy skos:closeMatch Orphanet:295051 Lower limb hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21213 LEXMATCH -MONDO:0017477 lower limb hypertrophy skos:closeMatch Orphanet:295051 Lower limb hypertrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017477 LEXMATCH -MONDO:0017477 lower limb hypertrophy skos:closeMatch Orphanet:295051 Lower limb hypertrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017477 LEXMATCH -MONDO:0017477 lower limb hypertrophy skos:closeMatch Orphanet:295051 Lower limb hypertrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295051 LEXMATCH -MONDO:0017543 zygodactyly type 2 skos:closeMatch Orphanet:295189 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295189 LEXMATCH -MONDO:0017543 zygodactyly type 2 skos:closeMatch Orphanet:295189 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21214 LEXMATCH -MONDO:0017543 zygodactyly type 2 skos:closeMatch Orphanet:295189 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017543 LEXMATCH -MONDO:0017543 zygodactyly type 2 skos:closeMatch Orphanet:295189 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017543 LEXMATCH -MONDO:0017543 zygodactyly type 2 skos:closeMatch Orphanet:295189 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295189 LEXMATCH -MONDO:0017544 zygodactyly type 3 skos:closeMatch Orphanet:295191 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295191 LEXMATCH -MONDO:0017544 zygodactyly type 3 skos:closeMatch Orphanet:295191 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21215 LEXMATCH -MONDO:0017544 zygodactyly type 3 skos:closeMatch Orphanet:295191 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017544 LEXMATCH -MONDO:0017544 zygodactyly type 3 skos:closeMatch Orphanet:295191 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017544 LEXMATCH -MONDO:0017544 zygodactyly type 3 skos:closeMatch Orphanet:295191 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295191 LEXMATCH -MONDO:0017545 zygodactyly type 4 skos:closeMatch Orphanet:295193 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295193 LEXMATCH -MONDO:0017545 zygodactyly type 4 skos:closeMatch Orphanet:295193 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21216 LEXMATCH -MONDO:0017545 zygodactyly type 4 skos:closeMatch Orphanet:295193 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017545 LEXMATCH -MONDO:0017545 zygodactyly type 4 skos:closeMatch Orphanet:295193 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017545 LEXMATCH -MONDO:0017545 zygodactyly type 4 skos:closeMatch Orphanet:295193 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295193 LEXMATCH -MONDO:0017546 congenital vertical talus, unilateral skos:closeMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295201 LEXMATCH -MONDO:0017546 congenital vertical talus, unilateral skos:closeMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21217 LEXMATCH -MONDO:0017546 congenital vertical talus, unilateral skos:closeMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017546 LEXMATCH -MONDO:0017546 congenital vertical talus, unilateral skos:closeMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017546 LEXMATCH -MONDO:0017546 congenital vertical talus, unilateral skos:closeMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295201 LEXMATCH -MONDO:0017547 congenital vertical talus, bilateral skos:closeMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295203 LEXMATCH -MONDO:0017547 congenital vertical talus, bilateral skos:closeMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21218 LEXMATCH -MONDO:0017547 congenital vertical talus, bilateral skos:closeMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017547 LEXMATCH -MONDO:0017547 congenital vertical talus, bilateral skos:closeMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017547 LEXMATCH -MONDO:0017547 congenital vertical talus, bilateral skos:closeMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295203 LEXMATCH -MONDO:0017552 humero-ulnar synostosis, unilateral skos:closeMatch Orphanet:295213 Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295213 LEXMATCH -MONDO:0017552 humero-ulnar synostosis, unilateral skos:closeMatch Orphanet:295213 Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21219 LEXMATCH -MONDO:0017552 humero-ulnar synostosis, unilateral skos:closeMatch Orphanet:295213 Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017552 LEXMATCH -MONDO:0017552 humero-ulnar synostosis, unilateral skos:closeMatch Orphanet:295213 Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017552 LEXMATCH -MONDO:0017552 humero-ulnar synostosis, unilateral skos:closeMatch Orphanet:295213 Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295213 LEXMATCH -MONDO:0017553 humero-ulnar synostosis, bilateral skos:closeMatch Orphanet:295215 Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295215 LEXMATCH -MONDO:0017553 humero-ulnar synostosis, bilateral skos:closeMatch Orphanet:295215 Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21220 LEXMATCH -MONDO:0017553 humero-ulnar synostosis, bilateral skos:closeMatch Orphanet:295215 Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017553 LEXMATCH -MONDO:0017553 humero-ulnar synostosis, bilateral skos:closeMatch Orphanet:295215 Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017553 LEXMATCH -MONDO:0017553 humero-ulnar synostosis, bilateral skos:closeMatch Orphanet:295215 Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295215 LEXMATCH -MONDO:0017554 radio-ulnar synostosis, unilateral skos:closeMatch Orphanet:295217 Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295217 LEXMATCH -MONDO:0017554 radio-ulnar synostosis, unilateral skos:closeMatch Orphanet:295217 Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21221 LEXMATCH -MONDO:0017554 radio-ulnar synostosis, unilateral skos:closeMatch Orphanet:295217 Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017554 LEXMATCH -MONDO:0017554 radio-ulnar synostosis, unilateral skos:closeMatch Orphanet:295217 Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017554 LEXMATCH -MONDO:0017554 radio-ulnar synostosis, unilateral skos:closeMatch Orphanet:295217 Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295217 LEXMATCH -MONDO:0017555 radio-ulnar synostosis, bilateral skos:closeMatch Orphanet:295219 Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295219 LEXMATCH -MONDO:0017555 radio-ulnar synostosis, bilateral skos:closeMatch Orphanet:295219 Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21222 LEXMATCH -MONDO:0017555 radio-ulnar synostosis, bilateral skos:closeMatch Orphanet:295219 Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017555 LEXMATCH -MONDO:0017555 radio-ulnar synostosis, bilateral skos:closeMatch Orphanet:295219 Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017555 LEXMATCH -MONDO:0017555 radio-ulnar synostosis, bilateral skos:closeMatch Orphanet:295219 Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295219 LEXMATCH -MONDO:0017558 congenital elbow dislocation, unilateral skos:closeMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295225 LEXMATCH -MONDO:0017558 congenital elbow dislocation, unilateral skos:closeMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21223 LEXMATCH -MONDO:0017558 congenital elbow dislocation, unilateral skos:closeMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017558 LEXMATCH -MONDO:0017558 congenital elbow dislocation, unilateral skos:closeMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017558 LEXMATCH -MONDO:0017558 congenital elbow dislocation, unilateral skos:closeMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295225 LEXMATCH -MONDO:0017559 congenital elbow dislocation, bilateral skos:closeMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295227 LEXMATCH -MONDO:0017559 congenital elbow dislocation, bilateral skos:closeMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21224 LEXMATCH -MONDO:0017559 congenital elbow dislocation, bilateral skos:closeMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017559 LEXMATCH -MONDO:0017559 congenital elbow dislocation, bilateral skos:closeMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017559 LEXMATCH -MONDO:0017559 congenital elbow dislocation, bilateral skos:closeMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295227 LEXMATCH -MONDO:0017560 congenital genu recurvatum skos:closeMatch Orphanet:295229 Congenital genu recurvatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295229 LEXMATCH -MONDO:0017560 congenital genu recurvatum skos:closeMatch Orphanet:295229 Congenital genu recurvatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21225 LEXMATCH -MONDO:0017560 congenital genu recurvatum skos:closeMatch Orphanet:295229 Congenital genu recurvatum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017560 LEXMATCH -MONDO:0017560 congenital genu recurvatum skos:closeMatch Orphanet:295229 Congenital genu recurvatum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017560 LEXMATCH -MONDO:0017560 congenital genu recurvatum skos:closeMatch Orphanet:295229 Congenital genu recurvatum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295229 LEXMATCH -MONDO:0017561 congenital genu flexum skos:closeMatch Orphanet:295232 Congenital genu flexum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295232 LEXMATCH -MONDO:0017561 congenital genu flexum skos:closeMatch Orphanet:295232 Congenital genu flexum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21226 LEXMATCH -MONDO:0017561 congenital genu flexum skos:closeMatch Orphanet:295232 Congenital genu flexum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017561 LEXMATCH -MONDO:0017561 congenital genu flexum skos:closeMatch Orphanet:295232 Congenital genu flexum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017561 LEXMATCH -MONDO:0017561 congenital genu flexum skos:closeMatch Orphanet:295232 Congenital genu flexum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295232 LEXMATCH -MONDO:0017564 macrodactyly of fingers, unilateral skos:closeMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295239 LEXMATCH -MONDO:0017564 macrodactyly of fingers, unilateral skos:closeMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21227 LEXMATCH -MONDO:0017564 macrodactyly of fingers, unilateral skos:closeMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017564 LEXMATCH -MONDO:0017564 macrodactyly of fingers, unilateral skos:closeMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017564 LEXMATCH -MONDO:0017564 macrodactyly of fingers, unilateral skos:closeMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295239 LEXMATCH -MONDO:0017565 macrodactyly of fingers, bilateral skos:closeMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295241 LEXMATCH -MONDO:0017565 macrodactyly of fingers, bilateral skos:closeMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21228 LEXMATCH -MONDO:0017565 macrodactyly of fingers, bilateral skos:closeMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017565 LEXMATCH -MONDO:0017565 macrodactyly of fingers, bilateral skos:closeMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017565 LEXMATCH -MONDO:0017565 macrodactyly of fingers, bilateral skos:closeMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295241 LEXMATCH -MONDO:0017566 macrodactyly of toes, unilateral skos:closeMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295243 LEXMATCH -MONDO:0017566 macrodactyly of toes, unilateral skos:closeMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21229 LEXMATCH -MONDO:0017566 macrodactyly of toes, unilateral skos:closeMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017566 LEXMATCH -MONDO:0017566 macrodactyly of toes, unilateral skos:closeMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017566 LEXMATCH -MONDO:0017566 macrodactyly of toes, unilateral skos:closeMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295243 LEXMATCH -MONDO:0017567 macrodactyly of toes, bilateral skos:closeMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:295245 LEXMATCH -MONDO:0017567 macrodactyly of toes, bilateral skos:closeMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21230 LEXMATCH -MONDO:0017567 macrodactyly of toes, bilateral skos:closeMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017567 LEXMATCH -MONDO:0017567 macrodactyly of toes, bilateral skos:closeMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017567 LEXMATCH -MONDO:0017567 macrodactyly of toes, bilateral skos:closeMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:295245 LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931761 LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2956 LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:491 LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017568 LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017568 LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2956 LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2962 LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:49 LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, de barsy type LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017569 LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017569 LEXMATCH -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2962 LEXMATCH -MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2968 LEXMATCH -MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16616 LEXMATCH -MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017570 LEXMATCH -MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017570 LEXMATCH -MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2968 LEXMATCH -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2969 LEXMATCH -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12801 LEXMATCH -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017571 LEXMATCH -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017571 LEXMATCH -MONDO:0017571 Proteus-like syndrome skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2969 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043848 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014061 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:297 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5216 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017572 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017572 LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:297 LEXMATCH -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:closeMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2973 LEXMATCH -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:closeMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18782 LEXMATCH -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:closeMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017573 LEXMATCH -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:closeMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017573 LEXMATCH -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:closeMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2973 LEXMATCH -MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2978 LEXMATCH -MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12744 LEXMATCH -MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017574 LEXMATCH -MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017574 LEXMATCH -MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2978 LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculogastrointestinal muscular dystrophy LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:298 LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9920 LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017575 LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017575 LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:298 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2982 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18783 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017576 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017576 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2982 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325697 LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017576 LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931542 LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:29822 LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4815 LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017577 LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017577 LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:29822 LEXMATCH -MONDO:0017578 disorder of thiamine metabolism and transport skos:closeMatch Orphanet:298644 Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21231 LEXMATCH -MONDO:0017578 disorder of thiamine metabolism and transport skos:closeMatch Orphanet:298644 Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017578 LEXMATCH -MONDO:0017578 disorder of thiamine metabolism and transport skos:closeMatch Orphanet:298644 Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017578 LEXMATCH -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2995 LEXMATCH -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5279 LEXMATCH -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017579 LEXMATCH -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017579 LEXMATCH -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2995 LEXMATCH -MONDO:0017580 11p15.4 microduplication syndrome skos:closeMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300305 LEXMATCH -MONDO:0017580 11p15.4 microduplication syndrome skos:closeMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21232 LEXMATCH -MONDO:0017580 11p15.4 microduplication syndrome skos:closeMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017580 LEXMATCH -MONDO:0017580 11p15.4 microduplication syndrome skos:closeMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017580 LEXMATCH -MONDO:0017580 11p15.4 microduplication syndrome skos:closeMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300305 LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346300 LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300385 LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9371 LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017582 LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017582 LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300385 LEXMATCH -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:closeMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3004 LEXMATCH -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:closeMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18784 LEXMATCH -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:closeMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017583 LEXMATCH -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:closeMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017583 LEXMATCH -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:closeMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3004 LEXMATCH -MONDO:0017584 Sagliker syndrome skos:closeMatch Orphanet:300493 Sagliker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300493 LEXMATCH -MONDO:0017584 Sagliker syndrome skos:closeMatch Orphanet:300493 Sagliker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21233 LEXMATCH -MONDO:0017584 Sagliker syndrome skos:closeMatch Orphanet:300493 Sagliker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017584 LEXMATCH -MONDO:0017584 Sagliker syndrome skos:closeMatch Orphanet:300493 Sagliker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017584 LEXMATCH -MONDO:0017584 Sagliker syndrome skos:closeMatch Orphanet:300493 Sagliker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300493 LEXMATCH -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:closeMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300501 LEXMATCH -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:closeMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11006 LEXMATCH -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:closeMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017585 LEXMATCH -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:closeMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017585 LEXMATCH -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:closeMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300501 LEXMATCH -MONDO:0017586 onychocytic matricoma skos:closeMatch Orphanet:300504 Onychocytic matricoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300504 LEXMATCH -MONDO:0017586 onychocytic matricoma skos:closeMatch Orphanet:300504 Onychocytic matricoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11007 LEXMATCH -MONDO:0017586 onychocytic matricoma skos:closeMatch Orphanet:300504 Onychocytic matricoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017586 LEXMATCH -MONDO:0017586 onychocytic matricoma skos:closeMatch Orphanet:300504 Onychocytic matricoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017586 LEXMATCH -MONDO:0017586 onychocytic matricoma skos:closeMatch Orphanet:300504 Onychocytic matricoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300504 LEXMATCH -MONDO:0017587 onychomatricoma skos:closeMatch Orphanet:300512 Onychomatricoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300512 LEXMATCH -MONDO:0017587 onychomatricoma skos:closeMatch Orphanet:300512 Onychomatricoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21234 LEXMATCH -MONDO:0017587 onychomatricoma skos:closeMatch Orphanet:300512 Onychomatricoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017587 LEXMATCH -MONDO:0017587 onychomatricoma skos:closeMatch Orphanet:300512 Onychomatricoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017587 LEXMATCH -MONDO:0017587 onychomatricoma skos:closeMatch Orphanet:300512 Onychomatricoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300512 LEXMATCH -MONDO:0017588 nail tumor skos:closeMatch Orphanet:300515 Rare nail tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21235 LEXMATCH -MONDO:0017588 nail tumor skos:closeMatch Orphanet:300515 Rare nail tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare nail tumor LEXMATCH -MONDO:0017588 nail tumor skos:closeMatch Orphanet:300515 Rare nail tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017588 LEXMATCH -MONDO:0017588 nail tumor skos:closeMatch Orphanet:300515 Rare nail tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017588 LEXMATCH -MONDO:0017589 follicular cholangitis and pancreatitis skos:closeMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300552 LEXMATCH -MONDO:0017589 follicular cholangitis and pancreatitis skos:closeMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21236 LEXMATCH -MONDO:0017589 follicular cholangitis and pancreatitis skos:closeMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017589 LEXMATCH -MONDO:0017589 follicular cholangitis and pancreatitis skos:closeMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017589 LEXMATCH -MONDO:0017589 follicular cholangitis and pancreatitis skos:closeMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300552 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048853 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262401 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300557 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21237 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017590 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017590 LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300557 LEXMATCH -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:closeMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300564 LEXMATCH -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:closeMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21238 LEXMATCH -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:closeMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017591 LEXMATCH -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:closeMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017591 LEXMATCH -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:closeMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300564 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041932 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854511 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300579 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21239 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017592 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017592 LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300579 LEXMATCH -MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300605 LEXMATCH -MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11901 LEXMATCH -MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017593 LEXMATCH -MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017593 LEXMATCH -MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300605 LEXMATCH -MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21244 LEXMATCH -MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017594 LEXMATCH -MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017594 LEXMATCH -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21245 LEXMATCH -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017595 LEXMATCH -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017595 LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300849 LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21246 LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017596 LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017596 LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300849 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321547 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300857 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12257 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017597 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017597 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300857 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300865 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21247 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017598 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017598 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300865 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 LEXMATCH -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:closeMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300869 LEXMATCH -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:closeMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21248 LEXMATCH -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:closeMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017599 LEXMATCH -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:closeMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017599 LEXMATCH -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:closeMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300869 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019054 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349633 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300878 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21249 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017600 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017600 LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300878 LEXMATCH -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:closeMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300888 LEXMATCH -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:closeMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21250 LEXMATCH -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:closeMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017601 LEXMATCH -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:closeMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017601 LEXMATCH -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:closeMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300888 LEXMATCH -MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:closeMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300895 LEXMATCH -MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:closeMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21251 LEXMATCH -MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:closeMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017602 LEXMATCH -MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:closeMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017602 LEXMATCH -MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:closeMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300895 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332078 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300903 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21252 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017603 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017603 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300903 LEXMATCH -MONDO:0017604 marginal zone lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:300912 LEXMATCH -MONDO:0017604 marginal zone lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13237 LEXMATCH -MONDO:0017604 marginal zone lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017604 LEXMATCH -MONDO:0017604 marginal zone lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017604 LEXMATCH -MONDO:0017604 marginal zone lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:300912 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054842 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059387 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068896 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3027 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6007 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017607 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017607 LEXMATCH -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3027 LEXMATCH -MONDO:0017609 renal tubular dysgenesis skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3033 LEXMATCH -MONDO:0017609 renal tubular dysgenesis skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:379 LEXMATCH -MONDO:0017609 renal tubular dysgenesis skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017609 LEXMATCH -MONDO:0017609 renal tubular dysgenesis skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017609 LEXMATCH -MONDO:0017609 renal tubular dysgenesis skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3033 LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079298 LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:304 LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10752 LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017610 LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017610 LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:304 LEXMATCH -MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032019 LEXMATCH -MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:304055 LEXMATCH -MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21253 LEXMATCH -MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017611 LEXMATCH -MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017611 LEXMATCH -MONDO:0017611 pituitary tumor skos:closeMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:304055 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016109 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079301 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:305 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2152 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017612 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017612 LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:305 LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796264 LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3055 LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:345 LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017614 LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017614 LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3055 LEXMATCH -MONDO:0017615 benign familial infantile epilepsy skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306 LEXMATCH -MONDO:0017615 benign familial infantile epilepsy skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:857 LEXMATCH -MONDO:0017615 benign familial infantile epilepsy skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017615 LEXMATCH -MONDO:0017615 benign familial infantile epilepsy skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017615 LEXMATCH -MONDO:0017615 benign familial infantile epilepsy skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306 LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306431 LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11992 LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017617 LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017617 LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306431 LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959582 LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306498 LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12800 LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017623 LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017623 LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306498 LEXMATCH -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306516 LEXMATCH -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21254 LEXMATCH -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017624 LEXMATCH -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017624 LEXMATCH -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306516 LEXMATCH -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306530 LEXMATCH -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17379 LEXMATCH -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017627 LEXMATCH -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017627 LEXMATCH -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306530 LEXMATCH -MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027123 LEXMATCH -MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306553 LEXMATCH -MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21255 LEXMATCH -MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017628 LEXMATCH -MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017628 LEXMATCH -MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306553 LEXMATCH -MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:closeMatch Orphanet:306617 X-linked complicated spastic paraplegia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12525 LEXMATCH -MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:closeMatch Orphanet:306617 X-linked complicated spastic paraplegia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017630 LEXMATCH -MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:closeMatch Orphanet:306617 X-linked complicated spastic paraplegia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017630 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339317 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306648 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21260 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017634 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017634 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306648 LEXMATCH -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:closeMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306669 LEXMATCH -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:closeMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21262 LEXMATCH -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:closeMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017636 LEXMATCH -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:closeMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017636 LEXMATCH -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:closeMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306669 LEXMATCH -MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058951 LEXMATCH -MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306682 LEXMATCH -MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21264 LEXMATCH -MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017638 LEXMATCH -MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017638 LEXMATCH -MONDO:0017638 manganese poisoning skos:closeMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306682 LEXMATCH -MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393565 LEXMATCH -MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306686 LEXMATCH -MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21265 LEXMATCH -MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017639 LEXMATCH -MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017639 LEXMATCH -MONDO:0017639 carbon monoxide-induced parkinsonism skos:closeMatch Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306686 LEXMATCH -MONDO:0017640 cyanide-induced parkinsonism skos:closeMatch Orphanet:306692 Cyanide-induced parkinsonism-dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306692 LEXMATCH -MONDO:0017640 cyanide-induced parkinsonism skos:closeMatch Orphanet:306692 Cyanide-induced parkinsonism-dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21266 LEXMATCH -MONDO:0017640 cyanide-induced parkinsonism skos:closeMatch Orphanet:306692 Cyanide-induced parkinsonism-dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017640 LEXMATCH -MONDO:0017640 cyanide-induced parkinsonism skos:closeMatch Orphanet:306692 Cyanide-induced parkinsonism-dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017640 LEXMATCH -MONDO:0017640 cyanide-induced parkinsonism skos:closeMatch Orphanet:306692 Cyanide-induced parkinsonism-dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306692 LEXMATCH -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042732 LEXMATCH -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306731 LEXMATCH -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7716 LEXMATCH -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017648 LEXMATCH -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017648 LEXMATCH -MONDO:0017648 Sydenham chorea skos:closeMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306731 LEXMATCH -MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:closeMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306741 LEXMATCH -MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:closeMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21273 LEXMATCH -MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:closeMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017649 LEXMATCH -MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:closeMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017649 LEXMATCH -MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:closeMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306741 LEXMATCH -MONDO:0017658 hyperekplexia skos:closeMatch Orphanet:306773 Hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21281 LEXMATCH -MONDO:0017658 hyperekplexia skos:closeMatch Orphanet:306773 Hyperekplexia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017658 LEXMATCH -MONDO:0017658 hyperekplexia skos:closeMatch Orphanet:306773 Hyperekplexia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017658 LEXMATCH -MONDO:0017659 sporadic hyperekplexia skos:closeMatch Orphanet:306776 Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306776 LEXMATCH -MONDO:0017659 sporadic hyperekplexia skos:closeMatch Orphanet:306776 Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21282 LEXMATCH -MONDO:0017659 sporadic hyperekplexia skos:closeMatch Orphanet:306776 Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017659 LEXMATCH -MONDO:0017659 sporadic hyperekplexia skos:closeMatch Orphanet:306776 Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017659 LEXMATCH -MONDO:0017659 sporadic hyperekplexia skos:closeMatch Orphanet:306776 Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306776 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307141 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21289 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017666 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017666 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:307141 LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:closeMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022584 LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3074 LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3514 LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stoll-géraudel-chauvin syndrome LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017668 LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017668 LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:closeMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3074 LEXMATCH -MONDO:0017672 focal palmoplantar keratoderma skos:closeMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307837 LEXMATCH -MONDO:0017672 focal palmoplantar keratoderma skos:closeMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21294 LEXMATCH -MONDO:0017672 focal palmoplantar keratoderma skos:closeMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017672 LEXMATCH -MONDO:0017672 focal palmoplantar keratoderma skos:closeMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017672 LEXMATCH -MONDO:0017672 focal palmoplantar keratoderma skos:closeMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:307837 LEXMATCH -MONDO:0017675 punctate palmoplantar keratoderma skos:closeMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:307967 LEXMATCH -MONDO:0017675 punctate palmoplantar keratoderma skos:closeMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21297 LEXMATCH -MONDO:0017675 punctate palmoplantar keratoderma skos:closeMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017675 LEXMATCH -MONDO:0017675 punctate palmoplantar keratoderma skos:closeMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017675 LEXMATCH -MONDO:0017675 punctate palmoplantar keratoderma skos:closeMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:307967 LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302839 LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308013 LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21299 LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017677 LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017677 LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:closeMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308013 LEXMATCH -MONDO:0017681 erythrokeratoderma variabilis progressiva skos:closeMatch Orphanet:308166 Erythrokeratoderma variabilis progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10923 LEXMATCH -MONDO:0017681 erythrokeratoderma variabilis progressiva skos:closeMatch Orphanet:308166 Erythrokeratoderma variabilis progressiva semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017681 LEXMATCH -MONDO:0017681 erythrokeratoderma variabilis progressiva skos:closeMatch Orphanet:308166 Erythrokeratoderma variabilis progressiva semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017681 LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931547 LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3082 LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3141 LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017682 LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017682 LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:closeMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3082 LEXMATCH -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308380 LEXMATCH -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17385 LEXMATCH -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017683 LEXMATCH -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017683 LEXMATCH -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308380 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342707 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308407 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21303 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017684 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017684 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:closeMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308407 LEXMATCH -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308442 LEXMATCH -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17391 LEXMATCH -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017685 LEXMATCH -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017685 LEXMATCH -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308442 LEXMATCH -MONDO:0017686 inborn aminoacylase deficiency skos:closeMatch Orphanet:308448 Aminoacylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21304 LEXMATCH -MONDO:0017686 inborn aminoacylase deficiency skos:closeMatch Orphanet:308448 Aminoacylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminoacylase deficiency LEXMATCH -MONDO:0017686 inborn aminoacylase deficiency skos:closeMatch Orphanet:308448 Aminoacylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017686 LEXMATCH -MONDO:0017686 inborn aminoacylase deficiency skos:closeMatch Orphanet:308448 Aminoacylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017686 LEXMATCH -MONDO:0017687 disorder of neutral amino acid transport skos:closeMatch Orphanet:308451 Disorder of neutral amino acid transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21305 LEXMATCH -MONDO:0017687 disorder of neutral amino acid transport skos:closeMatch Orphanet:308451 Disorder of neutral amino acid transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017687 LEXMATCH -MONDO:0017687 disorder of neutral amino acid transport skos:closeMatch Orphanet:308451 Disorder of neutral amino acid transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017687 LEXMATCH -MONDO:0017688 disorder of glycolysis skos:closeMatch Orphanet:308459 Disorder of glycolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21306 LEXMATCH -MONDO:0017688 disorder of glycolysis skos:closeMatch Orphanet:308459 Disorder of glycolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017688 LEXMATCH -MONDO:0017688 disorder of glycolysis skos:closeMatch Orphanet:308459 Disorder of glycolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017688 LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342744 LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308463 LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21307 LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017689 LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017689 LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:closeMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308463 LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342745 LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308467 LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21308 LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017690 LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017690 LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:closeMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308467 LEXMATCH -MONDO:0017691 erythrocyte galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308473 LEXMATCH -MONDO:0017691 erythrocyte galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17392 LEXMATCH -MONDO:0017691 erythrocyte galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017691 LEXMATCH -MONDO:0017691 erythrocyte galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017691 LEXMATCH -MONDO:0017691 erythrocyte galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308473 LEXMATCH -MONDO:0017692 generalized galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308487 LEXMATCH -MONDO:0017692 generalized galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17393 LEXMATCH -MONDO:0017692 generalized galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017692 LEXMATCH -MONDO:0017692 generalized galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017692 LEXMATCH -MONDO:0017692 generalized galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308487 LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888924 LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308552 LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21310 LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017694 LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017694 LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308552 LEXMATCH -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308621 LEXMATCH -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17394 LEXMATCH -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017695 LEXMATCH -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017695 LEXMATCH -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308621 LEXMATCH -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308638 LEXMATCH -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17395 LEXMATCH -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017696 LEXMATCH -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017696 LEXMATCH -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308638 LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856303 LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308655 LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17396 LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017697 LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017697 LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308655 LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856304 LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308670 LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17397 LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017698 LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017698 LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308670 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308684 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17398 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017699 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017699 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308684 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856305 LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308698 LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17399 LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017700 LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017700 LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308698 LEXMATCH -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308712 LEXMATCH -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17400 LEXMATCH -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017701 LEXMATCH -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017701 LEXMATCH -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308712 LEXMATCH -MONDO:0017703 disorder of glyoxylate metabolism skos:closeMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:308998 LEXMATCH -MONDO:0017703 disorder of glyoxylate metabolism skos:closeMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21312 LEXMATCH -MONDO:0017703 disorder of glyoxylate metabolism skos:closeMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017703 LEXMATCH -MONDO:0017703 disorder of glyoxylate metabolism skos:closeMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017703 LEXMATCH -MONDO:0017703 disorder of glyoxylate metabolism skos:closeMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:308998 LEXMATCH -MONDO:0017704 familial partial epilepsy skos:closeMatch Orphanet:309 Familial partial epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2173 LEXMATCH -MONDO:0017704 familial partial epilepsy skos:closeMatch Orphanet:309 Familial partial epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017704 LEXMATCH -MONDO:0017704 familial partial epilepsy skos:closeMatch Orphanet:309 Familial partial epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017704 LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3090 LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4599 LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017705 LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017705 LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3090 LEXMATCH -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:closeMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309001 LEXMATCH -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:closeMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21313 LEXMATCH -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:closeMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017706 LEXMATCH -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:closeMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017706 LEXMATCH -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:closeMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309001 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072221 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309025 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21315 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017708 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017708 LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309025 LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268241 LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309108 LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17402 LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017711 LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017711 LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309108 LEXMATCH -MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309111 LEXMATCH -MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17403 LEXMATCH -MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017712 LEXMATCH -MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017712 LEXMATCH -MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309111 LEXMATCH -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:closeMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309115 LEXMATCH -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:closeMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21317 LEXMATCH -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:closeMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017713 LEXMATCH -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:closeMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017713 LEXMATCH -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:closeMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309115 LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268635 LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309120 LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21318 LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017714 LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017714 LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309120 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309127 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21319 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017715 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017715 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309127 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231530 LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:231530 LEXMATCH -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309130 LEXMATCH -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21320 LEXMATCH -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017716 LEXMATCH -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017716 LEXMATCH -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309130 LEXMATCH -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017083 LEXMATCH -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309144 LEXMATCH -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12510 LEXMATCH -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017719 LEXMATCH -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017719 LEXMATCH -MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309144 LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268274 LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309152 LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21323 LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017720 LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017720 LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309152 LEXMATCH -MONDO:0017721 Sandhoff disease, infantile form skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309155 LEXMATCH -MONDO:0017721 Sandhoff disease, infantile form skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7604 LEXMATCH -MONDO:0017721 Sandhoff disease, infantile form skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017721 LEXMATCH -MONDO:0017721 Sandhoff disease, infantile form skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017721 LEXMATCH -MONDO:0017721 Sandhoff disease, infantile form skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309155 LEXMATCH -MONDO:0017722 Sandhoff disease, juvenile form skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309162 LEXMATCH -MONDO:0017722 Sandhoff disease, juvenile form skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17404 LEXMATCH -MONDO:0017722 Sandhoff disease, juvenile form skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017722 LEXMATCH -MONDO:0017722 Sandhoff disease, juvenile form skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017722 LEXMATCH -MONDO:0017722 Sandhoff disease, juvenile form skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309162 LEXMATCH -MONDO:0017723 Sandhoff disease, adult form skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309169 LEXMATCH -MONDO:0017723 Sandhoff disease, adult form skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17405 LEXMATCH -MONDO:0017723 Sandhoff disease, adult form skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017723 LEXMATCH -MONDO:0017723 Sandhoff disease, adult form skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017723 LEXMATCH -MONDO:0017723 Sandhoff disease, adult form skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309169 LEXMATCH -MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:closeMatch Orphanet:309178 Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309178 LEXMATCH -MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:closeMatch Orphanet:309178 Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21324 LEXMATCH -MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:closeMatch Orphanet:309178 Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017724 LEXMATCH -MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:closeMatch Orphanet:309178 Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017724 LEXMATCH -MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:closeMatch Orphanet:309178 Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309178 LEXMATCH -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:closeMatch Orphanet:309185 Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309185 LEXMATCH -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:closeMatch Orphanet:309185 Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21325 LEXMATCH -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:closeMatch Orphanet:309185 Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017725 LEXMATCH -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:closeMatch Orphanet:309185 Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017725 LEXMATCH -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:closeMatch Orphanet:309185 Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309185 LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848914 LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309192 LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21326 LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017726 LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017726 LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309192 LEXMATCH -MONDO:0017727 fixed subaortic stenosis skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3092 LEXMATCH -MONDO:0017727 fixed subaortic stenosis skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16619 LEXMATCH -MONDO:0017727 fixed subaortic stenosis skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017727 LEXMATCH -MONDO:0017727 fixed subaortic stenosis skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017727 LEXMATCH -MONDO:0017727 fixed subaortic stenosis skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3092 LEXMATCH -MONDO:0017728 Tay-Sachs disease, B1 variant skos:closeMatch Orphanet:309239 Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309239 LEXMATCH -MONDO:0017728 Tay-Sachs disease, B1 variant skos:closeMatch Orphanet:309239 Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21327 LEXMATCH -MONDO:0017728 Tay-Sachs disease, B1 variant skos:closeMatch Orphanet:309239 Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017728 LEXMATCH -MONDO:0017728 Tay-Sachs disease, B1 variant skos:closeMatch Orphanet:309239 Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017728 LEXMATCH -MONDO:0017728 Tay-Sachs disease, B1 variant skos:closeMatch Orphanet:309239 Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309239 LEXMATCH -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309256 LEXMATCH -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21328 LEXMATCH -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017729 LEXMATCH -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017729 LEXMATCH -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309256 LEXMATCH -MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309271 LEXMATCH -MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21330 LEXMATCH -MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017730 LEXMATCH -MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017730 LEXMATCH -MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309271 LEXMATCH -MONDO:0017731 glycoproteinosis skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309279 LEXMATCH -MONDO:0017731 glycoproteinosis skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10670 LEXMATCH -MONDO:0017731 glycoproteinosis skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017731 LEXMATCH -MONDO:0017731 glycoproteinosis skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017731 LEXMATCH -MONDO:0017731 glycoproteinosis skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309279 LEXMATCH -MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309282 LEXMATCH -MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17407 LEXMATCH -MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017732 LEXMATCH -MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017732 LEXMATCH -MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309282 LEXMATCH -MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309288 LEXMATCH -MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17408 LEXMATCH -MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017733 LEXMATCH -MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017733 LEXMATCH -MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309288 LEXMATCH -MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058800 LEXMATCH -MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309294 LEXMATCH -MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21331 LEXMATCH -MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017734 LEXMATCH -MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017734 LEXMATCH -MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309294 LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010371 LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3093 LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18786 LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017735 LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017735 LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3093 LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342851 LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309319 LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21332 LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017736 LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017736 LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309319 LEXMATCH -MONDO:0017737 intermediate severe Salla disease skos:closeMatch Orphanet:309331 Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309331 LEXMATCH -MONDO:0017737 intermediate severe Salla disease skos:closeMatch Orphanet:309331 Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10871 LEXMATCH -MONDO:0017737 intermediate severe Salla disease skos:closeMatch Orphanet:309331 Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017737 LEXMATCH -MONDO:0017737 intermediate severe Salla disease skos:closeMatch Orphanet:309331 Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017737 LEXMATCH -MONDO:0017737 intermediate severe Salla disease skos:closeMatch Orphanet:309331 Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309331 LEXMATCH -MONDO:0017738 lysosomal glycogen storage disease skos:closeMatch Orphanet:309337 Lysosomal glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21333 LEXMATCH -MONDO:0017738 lysosomal glycogen storage disease skos:closeMatch Orphanet:309337 Lysosomal glycogen storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017738 LEXMATCH -MONDO:0017738 lysosomal glycogen storage disease skos:closeMatch Orphanet:309337 Lysosomal glycogen storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017738 LEXMATCH -MONDO:0017739 disorder of lysosomal-related organelles skos:closeMatch Orphanet:309340 Disorder of lysosomal-related organelles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21334 LEXMATCH -MONDO:0017739 disorder of lysosomal-related organelles skos:closeMatch Orphanet:309340 Disorder of lysosomal-related organelles semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017739 LEXMATCH -MONDO:0017739 disorder of lysosomal-related organelles skos:closeMatch Orphanet:309340 Disorder of lysosomal-related organelles semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017739 LEXMATCH -MONDO:0017740 disorder of protein N-glycosylation skos:closeMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309347 LEXMATCH -MONDO:0017740 disorder of protein N-glycosylation skos:closeMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21335 LEXMATCH -MONDO:0017740 disorder of protein N-glycosylation skos:closeMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017740 LEXMATCH -MONDO:0017740 disorder of protein N-glycosylation skos:closeMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017740 LEXMATCH -MONDO:0017740 disorder of protein N-glycosylation skos:closeMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309347 LEXMATCH -MONDO:0017741 disorder of protein O-glycosylation skos:closeMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309447 LEXMATCH -MONDO:0017741 disorder of protein O-glycosylation skos:closeMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21336 LEXMATCH -MONDO:0017741 disorder of protein O-glycosylation skos:closeMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017741 LEXMATCH -MONDO:0017741 disorder of protein O-glycosylation skos:closeMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017741 LEXMATCH -MONDO:0017741 disorder of protein O-glycosylation skos:closeMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309447 LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748910 LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3095 LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4694 LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017746 LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017746 LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3095 LEXMATCH -MONDO:0017747 disorder of fucoglycosan synthesis skos:closeMatch Orphanet:309505 Disorder of fucoglycosan synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21341 LEXMATCH -MONDO:0017747 disorder of fucoglycosan synthesis skos:closeMatch Orphanet:309505 Disorder of fucoglycosan synthesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017747 LEXMATCH -MONDO:0017747 disorder of fucoglycosan synthesis skos:closeMatch Orphanet:309505 Disorder of fucoglycosan synthesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017747 LEXMATCH -MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21342 LEXMATCH -MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation LEXMATCH -MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017748 LEXMATCH -MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017748 LEXMATCH -MONDO:0017749 disorder of multiple glycosylation skos:closeMatch Orphanet:309526 Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309526 LEXMATCH -MONDO:0017749 disorder of multiple glycosylation skos:closeMatch Orphanet:309526 Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21343 LEXMATCH -MONDO:0017749 disorder of multiple glycosylation skos:closeMatch Orphanet:309526 Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017749 LEXMATCH -MONDO:0017749 disorder of multiple glycosylation skos:closeMatch Orphanet:309526 Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017749 LEXMATCH -MONDO:0017749 disorder of multiple glycosylation skos:closeMatch Orphanet:309526 Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309526 LEXMATCH -MONDO:0017750 defect in conserved oligomeric Golgi complex skos:closeMatch Orphanet:309568 Defect in conserved oligomeric Golgi complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21344 LEXMATCH -MONDO:0017750 defect in conserved oligomeric Golgi complex skos:closeMatch Orphanet:309568 Defect in conserved oligomeric Golgi complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017750 LEXMATCH -MONDO:0017750 defect in conserved oligomeric Golgi complex skos:closeMatch Orphanet:309568 Defect in conserved oligomeric Golgi complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017750 LEXMATCH -MONDO:0017752 defect in V-ATPase skos:closeMatch Orphanet:309778 Defect in V-ATPase semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21345 LEXMATCH -MONDO:0017752 defect in V-ATPase skos:closeMatch Orphanet:309778 Defect in V-ATPase semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017752 LEXMATCH -MONDO:0017752 defect in V-ATPase skos:closeMatch Orphanet:309778 Defect in V-ATPase semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017752 LEXMATCH -MONDO:0017754 inborn disorder of porphyrin metabolism skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21346 LEXMATCH -MONDO:0017754 inborn disorder of porphyrin metabolism skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017754 LEXMATCH -MONDO:0017754 inborn disorder of porphyrin metabolism skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017754 LEXMATCH -MONDO:0017755 inborn disorder of bilirubin metabolism skos:closeMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309816 LEXMATCH -MONDO:0017755 inborn disorder of bilirubin metabolism skos:closeMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21347 LEXMATCH -MONDO:0017755 inborn disorder of bilirubin metabolism skos:closeMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017755 LEXMATCH -MONDO:0017755 inborn disorder of bilirubin metabolism skos:closeMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017755 LEXMATCH -MONDO:0017755 inborn disorder of bilirubin metabolism skos:closeMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309816 LEXMATCH -MONDO:0017757 disorder of metabolite absorption and transport skos:closeMatch Orphanet:309824 Disorder of metabolite absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21349 LEXMATCH -MONDO:0017757 disorder of metabolite absorption and transport skos:closeMatch Orphanet:309824 Disorder of metabolite absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017757 LEXMATCH -MONDO:0017757 disorder of metabolite absorption and transport skos:closeMatch Orphanet:309824 Disorder of metabolite absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017757 LEXMATCH -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:closeMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309827 LEXMATCH -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:closeMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21350 LEXMATCH -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:closeMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017758 LEXMATCH -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:closeMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017758 LEXMATCH -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:closeMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309827 LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342685 LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309830 LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21351 LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017759 LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017759 LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309830 LEXMATCH -MONDO:0017761 disorder of mineral absorption and transport skos:closeMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309836 LEXMATCH -MONDO:0017761 disorder of mineral absorption and transport skos:closeMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21353 LEXMATCH -MONDO:0017761 disorder of mineral absorption and transport skos:closeMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017761 LEXMATCH -MONDO:0017761 disorder of mineral absorption and transport skos:closeMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017761 LEXMATCH -MONDO:0017761 disorder of mineral absorption and transport skos:closeMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309836 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061091 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012714 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309839 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21354 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017762 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017762 LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309839 LEXMATCH -MONDO:0017763 disorder of iron metabolism and transport skos:closeMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309842 LEXMATCH -MONDO:0017763 disorder of iron metabolism and transport skos:closeMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21355 LEXMATCH -MONDO:0017763 disorder of iron metabolism and transport skos:closeMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017763 LEXMATCH -MONDO:0017763 disorder of iron metabolism and transport skos:closeMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017763 LEXMATCH -MONDO:0017763 disorder of iron metabolism and transport skos:closeMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309842 LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048260 LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309845 LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21356 LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of zinc metabolism and transport LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017764 LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017764 LEXMATCH -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309845 LEXMATCH -MONDO:0017765 disorder of magnesium transport skos:closeMatch Orphanet:309848 Disorder of magnesium transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:309848 LEXMATCH -MONDO:0017765 disorder of magnesium transport skos:closeMatch Orphanet:309848 Disorder of magnesium transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21357 LEXMATCH -MONDO:0017765 disorder of magnesium transport skos:closeMatch Orphanet:309848 Disorder of magnesium transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017765 LEXMATCH -MONDO:0017765 disorder of magnesium transport skos:closeMatch Orphanet:309848 Disorder of magnesium transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017765 LEXMATCH -MONDO:0017765 disorder of magnesium transport skos:closeMatch Orphanet:309848 Disorder of magnesium transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:309848 LEXMATCH -MONDO:0017766 disorder of manganese transport skos:closeMatch Orphanet:309851 Disorder of manganese transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21358 LEXMATCH -MONDO:0017766 disorder of manganese transport skos:closeMatch Orphanet:309851 Disorder of manganese transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017766 LEXMATCH -MONDO:0017766 disorder of manganese transport skos:closeMatch Orphanet:309851 Disorder of manganese transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017766 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039054 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035436 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3099 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5699 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017767 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017767 LEXMATCH -MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3099 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270857 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:310 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18688 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017768 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017768 LEXMATCH -MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:310 LEXMATCH -MONDO:0017769 acquired immunodeficiency skos:closeMatch Orphanet:310050 Acquired immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:310050 LEXMATCH -MONDO:0017769 acquired immunodeficiency skos:closeMatch Orphanet:310050 Acquired immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21359 LEXMATCH -MONDO:0017769 acquired immunodeficiency skos:closeMatch Orphanet:310050 Acquired immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017769 LEXMATCH -MONDO:0017769 acquired immunodeficiency skos:closeMatch Orphanet:310050 Acquired immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017769 LEXMATCH -MONDO:0017769 acquired immunodeficiency skos:closeMatch Orphanet:310050 Acquired immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:310050 LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065148 LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3109 LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5445 LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017771 LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017771 LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3109 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473527 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31153 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18801 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017773 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017773 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31153 LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020597 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31154 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18802 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017774 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017774 LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31154 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069748 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025229 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31202 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9546 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017775 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017775 LEXMATCH -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31202 LEXMATCH -MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029444 LEXMATCH -MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31204 LEXMATCH -MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7210 LEXMATCH -MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017776 LEXMATCH -MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017776 LEXMATCH -MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31204 LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023686 LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313 LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10803 LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017778 LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017778 LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313 LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3137 LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16621 LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017779 LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017779 LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3137 LEXMATCH -MONDO:0017780 20p13 microdeletion syndrome skos:closeMatch Orphanet:313781 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313781 LEXMATCH -MONDO:0017780 20p13 microdeletion syndrome skos:closeMatch Orphanet:313781 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21360 LEXMATCH -MONDO:0017780 20p13 microdeletion syndrome skos:closeMatch Orphanet:313781 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017780 LEXMATCH -MONDO:0017780 20p13 microdeletion syndrome skos:closeMatch Orphanet:313781 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017780 LEXMATCH -MONDO:0017780 20p13 microdeletion syndrome skos:closeMatch Orphanet:313781 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313781 LEXMATCH -MONDO:0017781 12p12.1 microdeletion syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313884 LEXMATCH -MONDO:0017781 12p12.1 microdeletion syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17414 LEXMATCH -MONDO:0017781 12p12.1 microdeletion syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017781 LEXMATCH -MONDO:0017781 12p12.1 microdeletion syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017781 LEXMATCH -MONDO:0017781 12p12.1 microdeletion syndrome skos:closeMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313884 LEXMATCH -MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313892 LEXMATCH -MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17415 LEXMATCH -MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017782 LEXMATCH -MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017782 LEXMATCH -MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:closeMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313892 LEXMATCH -MONDO:0017783 congenital pancreatic cyst skos:closeMatch Orphanet:313906 Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313906 LEXMATCH -MONDO:0017783 congenital pancreatic cyst skos:closeMatch Orphanet:313906 Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21361 LEXMATCH -MONDO:0017783 congenital pancreatic cyst skos:closeMatch Orphanet:313906 Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017783 LEXMATCH -MONDO:0017783 congenital pancreatic cyst skos:closeMatch Orphanet:313906 Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017783 LEXMATCH -MONDO:0017783 congenital pancreatic cyst skos:closeMatch Orphanet:313906 Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313906 LEXMATCH -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:closeMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313920 LEXMATCH -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:closeMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21362 LEXMATCH -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:closeMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017784 LEXMATCH -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:closeMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017784 LEXMATCH -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:closeMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313920 LEXMATCH -MONDO:0017785 PENS syndrome skos:closeMatch Orphanet:313936 PENS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313936 LEXMATCH -MONDO:0017785 PENS syndrome skos:closeMatch Orphanet:313936 PENS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13447 LEXMATCH -MONDO:0017785 PENS syndrome skos:closeMatch Orphanet:313936 PENS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017785 LEXMATCH -MONDO:0017785 PENS syndrome skos:closeMatch Orphanet:313936 PENS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017785 LEXMATCH -MONDO:0017785 PENS syndrome skos:closeMatch Orphanet:313936 PENS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313936 LEXMATCH -MONDO:0017786 2q23.1 microduplication syndrome skos:closeMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313947 LEXMATCH -MONDO:0017786 2q23.1 microduplication syndrome skos:closeMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21363 LEXMATCH -MONDO:0017786 2q23.1 microduplication syndrome skos:closeMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017786 LEXMATCH -MONDO:0017786 2q23.1 microduplication syndrome skos:closeMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017786 LEXMATCH -MONDO:0017786 2q23.1 microduplication syndrome skos:closeMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313947 LEXMATCH -MONDO:0017787 erythroderma desquamativum skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314 LEXMATCH -MONDO:0017787 erythroderma desquamativum skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6878 LEXMATCH -MONDO:0017787 erythroderma desquamativum skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017787 LEXMATCH -MONDO:0017787 erythroderma desquamativum skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017787 LEXMATCH -MONDO:0017787 erythroderma desquamativum skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314 LEXMATCH -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:closeMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314002 LEXMATCH -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:closeMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21364 LEXMATCH -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:closeMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017788 LEXMATCH -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:closeMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017788 LEXMATCH -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:closeMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314002 LEXMATCH -MONDO:0017789 idiopathic linear interstitial keratitis skos:closeMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314017 LEXMATCH -MONDO:0017789 idiopathic linear interstitial keratitis skos:closeMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21365 LEXMATCH -MONDO:0017789 idiopathic linear interstitial keratitis skos:closeMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017789 LEXMATCH -MONDO:0017789 idiopathic linear interstitial keratitis skos:closeMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017789 LEXMATCH -MONDO:0017789 idiopathic linear interstitial keratitis skos:closeMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314017 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157798 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017790 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619182 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314022 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17416 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017790 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017790 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619182 LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314022 LEXMATCH -MONDO:0017791 high bone mass osteogenesis imperfecta skos:closeMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314029 LEXMATCH -MONDO:0017791 high bone mass osteogenesis imperfecta skos:closeMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21366 LEXMATCH -MONDO:0017791 high bone mass osteogenesis imperfecta skos:closeMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017791 LEXMATCH -MONDO:0017791 high bone mass osteogenesis imperfecta skos:closeMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017791 LEXMATCH -MONDO:0017791 high bone mass osteogenesis imperfecta skos:closeMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314029 LEXMATCH -MONDO:0017792 7p22.1 microduplication syndrome skos:closeMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314034 LEXMATCH -MONDO:0017792 7p22.1 microduplication syndrome skos:closeMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21367 LEXMATCH -MONDO:0017792 7p22.1 microduplication syndrome skos:closeMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017792 LEXMATCH -MONDO:0017792 7p22.1 microduplication syndrome skos:closeMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017792 LEXMATCH -MONDO:0017792 7p22.1 microduplication syndrome skos:closeMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314034 LEXMATCH -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:closeMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314041 LEXMATCH -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:closeMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21368 LEXMATCH -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:closeMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017793 LEXMATCH -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:closeMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017793 LEXMATCH -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:closeMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314041 LEXMATCH -MONDO:0017794 Xq12-q13.3 duplication syndrome skos:closeMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314389 LEXMATCH -MONDO:0017794 Xq12-q13.3 duplication syndrome skos:closeMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21369 LEXMATCH -MONDO:0017794 Xq12-q13.3 duplication syndrome skos:closeMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017794 LEXMATCH -MONDO:0017794 Xq12-q13.3 duplication syndrome skos:closeMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017794 LEXMATCH -MONDO:0017794 Xq12-q13.3 duplication syndrome skos:closeMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314389 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002448 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314419 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5747 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017795 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017795 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314419 LEXMATCH -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma LEXMATCH -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:closeMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314432 LEXMATCH -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:closeMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21371 LEXMATCH -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:closeMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017798 LEXMATCH -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:closeMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017798 LEXMATCH -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:closeMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314432 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027139 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025184 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314451 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21372 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017799 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017799 LEXMATCH -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314451 LEXMATCH -MONDO:0017800 pseudo-Meigs syndrome skos:closeMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314459 LEXMATCH -MONDO:0017800 pseudo-Meigs syndrome skos:closeMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21373 LEXMATCH -MONDO:0017800 pseudo-Meigs syndrome skos:closeMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017800 LEXMATCH -MONDO:0017800 pseudo-Meigs syndrome skos:closeMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017800 LEXMATCH -MONDO:0017800 pseudo-Meigs syndrome skos:closeMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314459 LEXMATCH -MONDO:0017801 atypical Meigs syndrome skos:closeMatch Orphanet:314466 Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314466 LEXMATCH -MONDO:0017801 atypical Meigs syndrome skos:closeMatch Orphanet:314466 Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21374 LEXMATCH -MONDO:0017801 atypical Meigs syndrome skos:closeMatch Orphanet:314466 Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017801 LEXMATCH -MONDO:0017801 atypical Meigs syndrome skos:closeMatch Orphanet:314466 Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017801 LEXMATCH -MONDO:0017801 atypical Meigs syndrome skos:closeMatch Orphanet:314466 Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314466 LEXMATCH -MONDO:0017802 ovarian fibrothecoma skos:closeMatch Orphanet:314478 Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314478 LEXMATCH -MONDO:0017802 ovarian fibrothecoma skos:closeMatch Orphanet:314478 Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21376 LEXMATCH -MONDO:0017802 ovarian fibrothecoma skos:closeMatch Orphanet:314478 Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017802 LEXMATCH -MONDO:0017802 ovarian fibrothecoma skos:closeMatch Orphanet:314478 Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017802 LEXMATCH -MONDO:0017802 ovarian fibrothecoma skos:closeMatch Orphanet:314478 Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314478 LEXMATCH -MONDO:0017803 primary progressive apraxia of speech skos:closeMatch Orphanet:314566 Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314566 LEXMATCH -MONDO:0017803 primary progressive apraxia of speech skos:closeMatch Orphanet:314566 Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21377 LEXMATCH -MONDO:0017803 primary progressive apraxia of speech skos:closeMatch Orphanet:314566 Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017803 LEXMATCH -MONDO:0017803 primary progressive apraxia of speech skos:closeMatch Orphanet:314566 Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017803 LEXMATCH -MONDO:0017803 primary progressive apraxia of speech skos:closeMatch Orphanet:314566 Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314566 LEXMATCH -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:closeMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314572 LEXMATCH -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:closeMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21378 LEXMATCH -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:closeMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017804 LEXMATCH -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:closeMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017804 LEXMATCH -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:closeMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314572 LEXMATCH -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:closeMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314575 LEXMATCH -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:closeMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21379 LEXMATCH -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:closeMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017805 LEXMATCH -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:closeMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017805 LEXMATCH -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:closeMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314575 LEXMATCH -MONDO:0017806 15q overgrowth syndrome skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314585 LEXMATCH -MONDO:0017806 15q overgrowth syndrome skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17423 LEXMATCH -MONDO:0017806 15q overgrowth syndrome skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017806 LEXMATCH -MONDO:0017806 15q overgrowth syndrome skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017806 LEXMATCH -MONDO:0017806 15q overgrowth syndrome skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314585 LEXMATCH -MONDO:0017807 growing teratoma syndrome skos:closeMatch Orphanet:314613 Growing teratoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314613 LEXMATCH -MONDO:0017807 growing teratoma syndrome skos:closeMatch Orphanet:314613 Growing teratoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21380 LEXMATCH -MONDO:0017807 growing teratoma syndrome skos:closeMatch Orphanet:314613 Growing teratoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017807 LEXMATCH -MONDO:0017807 growing teratoma syndrome skos:closeMatch Orphanet:314613 Growing teratoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017807 LEXMATCH -MONDO:0017807 growing teratoma syndrome skos:closeMatch Orphanet:314613 Growing teratoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314613 LEXMATCH -MONDO:0017808 duplication of the pituitary gland skos:closeMatch Orphanet:314621 Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314621 LEXMATCH -MONDO:0017808 duplication of the pituitary gland skos:closeMatch Orphanet:314621 Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21381 LEXMATCH -MONDO:0017808 duplication of the pituitary gland skos:closeMatch Orphanet:314621 Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017808 LEXMATCH -MONDO:0017808 duplication of the pituitary gland skos:closeMatch Orphanet:314621 Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017808 LEXMATCH -MONDO:0017808 duplication of the pituitary gland skos:closeMatch Orphanet:314621 Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314621 LEXMATCH -MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314632 LEXMATCH -MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17427 LEXMATCH -MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017809 LEXMATCH -MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017809 LEXMATCH -MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314632 LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:closeMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314652 LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:closeMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21382 LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:closeMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017810 LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:closeMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017810 LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:closeMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314652 LEXMATCH -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:closeMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314655 LEXMATCH -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:closeMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21383 LEXMATCH -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:closeMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017811 LEXMATCH -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:closeMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017811 LEXMATCH -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:closeMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314655 LEXMATCH -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:closeMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314662 LEXMATCH -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:closeMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21384 LEXMATCH -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:closeMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017812 LEXMATCH -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:closeMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017812 LEXMATCH -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:closeMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314662 LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314679 LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5456 LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017813 LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017813 LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314679 LEXMATCH -MONDO:0017814 primary bone lymphoma skos:closeMatch Orphanet:314684 Primary bone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314684 LEXMATCH -MONDO:0017814 primary bone lymphoma skos:closeMatch Orphanet:314684 Primary bone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21385 LEXMATCH -MONDO:0017814 primary bone lymphoma skos:closeMatch Orphanet:314684 Primary bone lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017814 LEXMATCH -MONDO:0017814 primary bone lymphoma skos:closeMatch Orphanet:314684 Primary bone lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017814 LEXMATCH -MONDO:0017814 primary bone lymphoma skos:closeMatch Orphanet:314684 Primary bone lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314684 LEXMATCH -MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151860 LEXMATCH -MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314697 LEXMATCH -MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21386 LEXMATCH -MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017815 LEXMATCH -MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017815 LEXMATCH -MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314697 LEXMATCH -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314701 LEXMATCH -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17431 LEXMATCH -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017816 LEXMATCH -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017816 LEXMATCH -MONDO:0017816 primary systemic amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314701 LEXMATCH -MONDO:0017817 primary localized amyloidosis skos:closeMatch Orphanet:314709 Primary localized amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314709 LEXMATCH -MONDO:0017817 primary localized amyloidosis skos:closeMatch Orphanet:314709 Primary localized amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21387 LEXMATCH -MONDO:0017817 primary localized amyloidosis skos:closeMatch Orphanet:314709 Primary localized amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017817 LEXMATCH -MONDO:0017817 primary localized amyloidosis skos:closeMatch Orphanet:314709 Primary localized amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017817 LEXMATCH -MONDO:0017817 primary localized amyloidosis skos:closeMatch Orphanet:314709 Primary localized amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314709 LEXMATCH -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314718 LEXMATCH -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17432 LEXMATCH -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017818 LEXMATCH -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017818 LEXMATCH -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314718 LEXMATCH -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314721 LEXMATCH -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17433 LEXMATCH -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017819 LEXMATCH -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017819 LEXMATCH -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314721 LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346305 LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314759 LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21390 LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017822 LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017822 LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314759 LEXMATCH -MONDO:0017823 somatomammotropinoma skos:closeMatch Orphanet:314769 Somatomammotropinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314769 LEXMATCH -MONDO:0017823 somatomammotropinoma skos:closeMatch Orphanet:314769 Somatomammotropinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21391 LEXMATCH -MONDO:0017823 somatomammotropinoma skos:closeMatch Orphanet:314769 Somatomammotropinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017823 LEXMATCH -MONDO:0017823 somatomammotropinoma skos:closeMatch Orphanet:314769 Somatomammotropinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017823 LEXMATCH -MONDO:0017823 somatomammotropinoma skos:closeMatch Orphanet:314769 Somatomammotropinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314769 LEXMATCH -MONDO:0017824 familial isolated pituitary adenoma skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314777 LEXMATCH -MONDO:0017824 familial isolated pituitary adenoma skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10959 LEXMATCH -MONDO:0017824 familial isolated pituitary adenoma skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017824 LEXMATCH -MONDO:0017824 familial isolated pituitary adenoma skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017824 LEXMATCH -MONDO:0017824 familial isolated pituitary adenoma skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314777 LEXMATCH -MONDO:0017825 silent pituitary adenoma skos:closeMatch Orphanet:314786 Silent pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314786 LEXMATCH -MONDO:0017825 silent pituitary adenoma skos:closeMatch Orphanet:314786 Silent pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21392 LEXMATCH -MONDO:0017825 silent pituitary adenoma skos:closeMatch Orphanet:314786 Silent pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017825 LEXMATCH -MONDO:0017825 silent pituitary adenoma skos:closeMatch Orphanet:314786 Silent pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017825 LEXMATCH -MONDO:0017825 silent pituitary adenoma skos:closeMatch Orphanet:314786 Silent pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314786 LEXMATCH -MONDO:0017826 null pituitary adenoma skos:closeMatch Orphanet:314790 Null pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314790 LEXMATCH -MONDO:0017826 null pituitary adenoma skos:closeMatch Orphanet:314790 Null pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21393 LEXMATCH -MONDO:0017826 null pituitary adenoma skos:closeMatch Orphanet:314790 Null pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017826 LEXMATCH -MONDO:0017826 null pituitary adenoma skos:closeMatch Orphanet:314790 Null pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017826 LEXMATCH -MONDO:0017826 null pituitary adenoma skos:closeMatch Orphanet:314790 Null pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314790 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029236 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751690 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3148 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10872 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017827 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017827 LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3148 LEXMATCH -MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:closeMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314889 LEXMATCH -MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:closeMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21394 LEXMATCH -MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:closeMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017829 LEXMATCH -MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:closeMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017829 LEXMATCH -MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:closeMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314889 LEXMATCH -MONDO:0017830 severe Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314911 LEXMATCH -MONDO:0017830 severe Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17437 LEXMATCH -MONDO:0017830 severe Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017830 LEXMATCH -MONDO:0017830 severe Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017830 LEXMATCH -MONDO:0017830 severe Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314911 LEXMATCH -MONDO:0017831 mild Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314918 LEXMATCH -MONDO:0017831 mild Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17438 LEXMATCH -MONDO:0017831 mild Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017831 LEXMATCH -MONDO:0017831 mild Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017831 LEXMATCH -MONDO:0017831 mild Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314918 LEXMATCH -MONDO:0017833 primary hypereosinophilic syndrome skos:closeMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314950 LEXMATCH -MONDO:0017833 primary hypereosinophilic syndrome skos:closeMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21395 LEXMATCH -MONDO:0017833 primary hypereosinophilic syndrome skos:closeMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017833 LEXMATCH -MONDO:0017833 primary hypereosinophilic syndrome skos:closeMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017833 LEXMATCH -MONDO:0017833 primary hypereosinophilic syndrome skos:closeMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314950 LEXMATCH -MONDO:0017834 secondary hypereosinophilic syndrome skos:closeMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314962 LEXMATCH -MONDO:0017834 secondary hypereosinophilic syndrome skos:closeMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21396 LEXMATCH -MONDO:0017834 secondary hypereosinophilic syndrome skos:closeMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017834 LEXMATCH -MONDO:0017834 secondary hypereosinophilic syndrome skos:closeMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017834 LEXMATCH -MONDO:0017834 secondary hypereosinophilic syndrome skos:closeMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314962 LEXMATCH -MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:closeMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:314970 LEXMATCH -MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:closeMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21397 LEXMATCH -MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:closeMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017835 LEXMATCH -MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:closeMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017835 LEXMATCH -MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:closeMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:314970 LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:315 LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1722 LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratoderma ''en cocardes'' LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017836 LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017836 LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:315 LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 LEXMATCH -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:closeMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3151 LEXMATCH -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:closeMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18787 LEXMATCH -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:closeMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017837 LEXMATCH -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:closeMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017837 LEXMATCH -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:closeMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3151 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265301 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3152 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4771 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017838 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017838 LEXMATCH -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3152 LEXMATCH -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:closeMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:315306 LEXMATCH -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:closeMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21398 LEXMATCH -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:closeMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017839 LEXMATCH -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:closeMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017839 LEXMATCH -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:closeMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:315306 LEXMATCH -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:closeMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:315311 LEXMATCH -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:closeMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21399 LEXMATCH -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:closeMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017840 LEXMATCH -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:closeMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017840 LEXMATCH -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:closeMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:315311 LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3156 LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:322 LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017842 LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017842 LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3156 LEXMATCH -MONDO:0017843 congenital pulmonary sequestration skos:closeMatch Orphanet:3161 Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3161 LEXMATCH -MONDO:0017843 congenital pulmonary sequestration skos:closeMatch Orphanet:3161 Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4593 LEXMATCH -MONDO:0017843 congenital pulmonary sequestration skos:closeMatch Orphanet:3161 Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017843 LEXMATCH -MONDO:0017843 congenital pulmonary sequestration skos:closeMatch Orphanet:3161 Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017843 LEXMATCH -MONDO:0017843 congenital pulmonary sequestration skos:closeMatch Orphanet:3161 Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3161 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040493 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036920 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3162 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7629 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017844 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017844 LEXMATCH -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3162 LEXMATCH -MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 LEXMATCH -MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:316226 LEXMATCH -MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21401 LEXMATCH -MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017845 LEXMATCH -MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017845 LEXMATCH -MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:316226 LEXMATCH -MONDO:0017846 autosomal dominant spastic ataxia skos:closeMatch Orphanet:316235 Autosomal dominant spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21402 LEXMATCH -MONDO:0017846 autosomal dominant spastic ataxia skos:closeMatch Orphanet:316235 Autosomal dominant spastic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017846 LEXMATCH -MONDO:0017846 autosomal dominant spastic ataxia skos:closeMatch Orphanet:316235 Autosomal dominant spastic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017846 LEXMATCH -MONDO:0017847 autosomal recessive spastic ataxia skos:closeMatch Orphanet:316240 Autosomal recessive spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21403 LEXMATCH -MONDO:0017847 autosomal recessive spastic ataxia skos:closeMatch Orphanet:316240 Autosomal recessive spastic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017847 LEXMATCH -MONDO:0017847 autosomal recessive spastic ataxia skos:closeMatch Orphanet:316240 Autosomal recessive spastic ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017847 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931473 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3167 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4867 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017849 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017849 LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3167 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049216 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037205 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3169 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7652 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017850 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017850 LEXMATCH -MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3169 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:316 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18639 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier-gottron disease LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia progressiva symmetrica LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive symmetric erythrokeratodermia, gottron type LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017851 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017851 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:316 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049048 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265961 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16528 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017851 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017851 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317 LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens LEXMATCH -MONDO:0017852 infantile spasms-broad thumbs syndrome skos:closeMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3173 LEXMATCH -MONDO:0017852 infantile spasms-broad thumbs syndrome skos:closeMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3002 LEXMATCH -MONDO:0017852 infantile spasms-broad thumbs syndrome skos:closeMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017852 LEXMATCH -MONDO:0017852 infantile spasms-broad thumbs syndrome skos:closeMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017852 LEXMATCH -MONDO:0017852 infantile spasms-broad thumbs syndrome skos:closeMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3173 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001890 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31740 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017853 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017853 LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31740 LEXMATCH -MONDO:0017855 T-B- severe combined immunodeficiency skos:closeMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317419 LEXMATCH -MONDO:0017855 T-B- severe combined immunodeficiency skos:closeMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21406 LEXMATCH -MONDO:0017855 T-B- severe combined immunodeficiency skos:closeMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017855 LEXMATCH -MONDO:0017855 T-B- severe combined immunodeficiency skos:closeMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017855 LEXMATCH -MONDO:0017855 T-B- severe combined immunodeficiency skos:closeMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317419 LEXMATCH -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3175 LEXMATCH -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16622 LEXMATCH -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017856 LEXMATCH -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017856 LEXMATCH -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3175 LEXMATCH -MONDO:0017857 spina bifida-hypospadias syndrome skos:closeMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3176 LEXMATCH -MONDO:0017857 spina bifida-hypospadias syndrome skos:closeMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4940 LEXMATCH -MONDO:0017857 spina bifida-hypospadias syndrome skos:closeMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017857 LEXMATCH -MONDO:0017857 spina bifida-hypospadias syndrome skos:closeMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017857 LEXMATCH -MONDO:0017857 spina bifida-hypospadias syndrome skos:closeMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3176 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023440 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:318 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9620 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroleukemia LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017858 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017858 LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:318 LEXMATCH -MONDO:0017859 colchicine poisoning skos:closeMatch Orphanet:31824 Colchicine poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31824 LEXMATCH -MONDO:0017859 colchicine poisoning skos:closeMatch Orphanet:31824 Colchicine poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18803 LEXMATCH -MONDO:0017859 colchicine poisoning skos:closeMatch Orphanet:31824 Colchicine poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017859 LEXMATCH -MONDO:0017859 colchicine poisoning skos:closeMatch Orphanet:31824 Colchicine poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017859 LEXMATCH -MONDO:0017859 colchicine poisoning skos:closeMatch Orphanet:31824 Colchicine poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31824 LEXMATCH -MONDO:0017860 methanol poisoning skos:closeMatch Orphanet:31825 Methanol poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31825 LEXMATCH -MONDO:0017860 methanol poisoning skos:closeMatch Orphanet:31825 Methanol poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18804 LEXMATCH -MONDO:0017860 methanol poisoning skos:closeMatch Orphanet:31825 Methanol poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017860 LEXMATCH -MONDO:0017860 methanol poisoning skos:closeMatch Orphanet:31825 Methanol poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017860 LEXMATCH -MONDO:0017860 methanol poisoning skos:closeMatch Orphanet:31825 Methanol poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31825 LEXMATCH -MONDO:0017861 ethylene glycol poisoning skos:closeMatch Orphanet:31826 Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31826 LEXMATCH -MONDO:0017861 ethylene glycol poisoning skos:closeMatch Orphanet:31826 Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18805 LEXMATCH -MONDO:0017861 ethylene glycol poisoning skos:closeMatch Orphanet:31826 Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017861 LEXMATCH -MONDO:0017861 ethylene glycol poisoning skos:closeMatch Orphanet:31826 Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017861 LEXMATCH -MONDO:0017861 ethylene glycol poisoning skos:closeMatch Orphanet:31826 Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31826 LEXMATCH -MONDO:0017862 paraquat poisoning skos:closeMatch Orphanet:31827 Paraquat poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31827 LEXMATCH -MONDO:0017862 paraquat poisoning skos:closeMatch Orphanet:31827 Paraquat poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18806 LEXMATCH -MONDO:0017862 paraquat poisoning skos:closeMatch Orphanet:31827 Paraquat poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017862 LEXMATCH -MONDO:0017862 paraquat poisoning skos:closeMatch Orphanet:31827 Paraquat poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017862 LEXMATCH -MONDO:0017862 paraquat poisoning skos:closeMatch Orphanet:31827 Paraquat poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31827 LEXMATCH -MONDO:0017863 digitalis poisoning skos:closeMatch Orphanet:31828 Digitalis poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:31828 LEXMATCH -MONDO:0017863 digitalis poisoning skos:closeMatch Orphanet:31828 Digitalis poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18807 LEXMATCH -MONDO:0017863 digitalis poisoning skos:closeMatch Orphanet:31828 Digitalis poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017863 LEXMATCH -MONDO:0017863 digitalis poisoning skos:closeMatch Orphanet:31828 Digitalis poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017863 LEXMATCH -MONDO:0017863 digitalis poisoning skos:closeMatch Orphanet:31828 Digitalis poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:31828 LEXMATCH -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3188 LEXMATCH -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4598 LEXMATCH -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017864 LEXMATCH -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017864 LEXMATCH -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3188 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3189 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16623 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017865 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017865 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3189 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 LEXMATCH -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valvular pulmonary stenosis LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165028 LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3190 LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5051 LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017866 LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017866 LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3190 LEXMATCH -MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:closeMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319171 LEXMATCH -MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:closeMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10996 LEXMATCH -MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:closeMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017867 LEXMATCH -MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:closeMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017867 LEXMATCH -MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:closeMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319171 LEXMATCH -MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:closeMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319192 LEXMATCH -MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:closeMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21407 LEXMATCH -MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:closeMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017868 LEXMATCH -MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:closeMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017868 LEXMATCH -MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:closeMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319192 LEXMATCH -MONDO:0017869 chondroectodermal dysplasia with night blindness skos:closeMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319195 LEXMATCH -MONDO:0017869 chondroectodermal dysplasia with night blindness skos:closeMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21408 LEXMATCH -MONDO:0017869 chondroectodermal dysplasia with night blindness skos:closeMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017869 LEXMATCH -MONDO:0017869 chondroectodermal dysplasia with night blindness skos:closeMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017869 LEXMATCH -MONDO:0017869 chondroectodermal dysplasia with night blindness skos:closeMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319195 LEXMATCH -MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3192 LEXMATCH -MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4594 LEXMATCH -MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017870 LEXMATCH -MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017870 LEXMATCH -MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3192 LEXMATCH -MONDO:0017871 bilateral massive adrenal hemorrhage skos:closeMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319205 LEXMATCH -MONDO:0017871 bilateral massive adrenal hemorrhage skos:closeMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21409 LEXMATCH -MONDO:0017871 bilateral massive adrenal hemorrhage skos:closeMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017871 LEXMATCH -MONDO:0017871 bilateral massive adrenal hemorrhage skos:closeMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017871 LEXMATCH -MONDO:0017871 bilateral massive adrenal hemorrhage skos:closeMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319205 LEXMATCH -MONDO:0017872 Lujo hemorrhagic fever skos:closeMatch Orphanet:319213 Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319213 LEXMATCH -MONDO:0017872 Lujo hemorrhagic fever skos:closeMatch Orphanet:319213 Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21410 LEXMATCH -MONDO:0017872 Lujo hemorrhagic fever skos:closeMatch Orphanet:319213 Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017872 LEXMATCH -MONDO:0017872 Lujo hemorrhagic fever skos:closeMatch Orphanet:319213 Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017872 LEXMATCH -MONDO:0017872 Lujo hemorrhagic fever skos:closeMatch Orphanet:319213 Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319213 LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019097 LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319223 LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21411 LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017874 LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017874 LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319223 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10005932 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282192 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319229 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21412 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017875 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017875 LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319229 LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042470 LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319234 LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21413 LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017876 LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017876 LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319234 LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343633 LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319239 LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21414 LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017877 LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017877 LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319239 LEXMATCH -MONDO:0017878 Chapare hemorrhagic fever skos:closeMatch Orphanet:319244 Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319244 LEXMATCH -MONDO:0017878 Chapare hemorrhagic fever skos:closeMatch Orphanet:319244 Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21415 LEXMATCH -MONDO:0017878 Chapare hemorrhagic fever skos:closeMatch Orphanet:319244 Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017878 LEXMATCH -MONDO:0017878 Chapare hemorrhagic fever skos:closeMatch Orphanet:319244 Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017878 LEXMATCH -MONDO:0017878 Chapare hemorrhagic fever skos:closeMatch Orphanet:319244 Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319244 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019143 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243025 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319247 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:69 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017879 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017879 LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319247 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039143 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035613 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319251 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21416 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017880 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017880 LEXMATCH -MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319251 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023505 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022810 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319254 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8257 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey disease LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey fever LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017881 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017881 LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319254 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030310 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019103 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319266 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8254 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017882 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017882 LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319266 LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306837 LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319298 LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9572 LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017884 LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017884 LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319298 LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266042 LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319303 LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6064 LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017885 LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017885 LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319303 LEXMATCH -MONDO:0017886 MIT family translocation renal cell carcinoma skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319308 LEXMATCH -MONDO:0017886 MIT family translocation renal cell carcinoma skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17446 LEXMATCH -MONDO:0017886 MIT family translocation renal cell carcinoma skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017886 LEXMATCH -MONDO:0017886 MIT family translocation renal cell carcinoma skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017886 LEXMATCH -MONDO:0017886 MIT family translocation renal cell carcinoma skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319308 LEXMATCH -MONDO:0017890 tubulocystic renal cell carcinoma skos:closeMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319325 LEXMATCH -MONDO:0017890 tubulocystic renal cell carcinoma skos:closeMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21419 LEXMATCH -MONDO:0017890 tubulocystic renal cell carcinoma skos:closeMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017890 LEXMATCH -MONDO:0017890 tubulocystic renal cell carcinoma skos:closeMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017890 LEXMATCH -MONDO:0017890 tubulocystic renal cell carcinoma skos:closeMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319325 LEXMATCH -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319332 LEXMATCH -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17447 LEXMATCH -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017892 LEXMATCH -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017892 LEXMATCH -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319332 LEXMATCH -MONDO:0017893 inherited acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319465 LEXMATCH -MONDO:0017893 inherited acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17450 LEXMATCH -MONDO:0017893 inherited acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017893 LEXMATCH -MONDO:0017893 inherited acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017893 LEXMATCH -MONDO:0017893 inherited acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319465 LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319480 LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17451 LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017894 LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017894 LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319480 LEXMATCH -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319487 LEXMATCH -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8488 LEXMATCH -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017895 LEXMATCH -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017895 LEXMATCH -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319487 LEXMATCH -MONDO:0017896 familial nonmedullary thyroid carcinoma skos:closeMatch Orphanet:319494 Familial nonmedullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21421 LEXMATCH -MONDO:0017896 familial nonmedullary thyroid carcinoma skos:closeMatch Orphanet:319494 Familial nonmedullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017896 LEXMATCH -MONDO:0017896 familial nonmedullary thyroid carcinoma skos:closeMatch Orphanet:319494 Familial nonmedullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017896 LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319547 LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17457 LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017900 LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017900 LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319547 LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319569 LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17459 LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017901 LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017901 LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319569 LEXMATCH -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319574 LEXMATCH -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17460 LEXMATCH -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017902 LEXMATCH -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017902 LEXMATCH -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319574 LEXMATCH -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319589 LEXMATCH -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21425 LEXMATCH -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017903 LEXMATCH -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017903 LEXMATCH -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:closeMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319589 LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931508 LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3196 LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5015 LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017904 LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017904 LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3196 LEXMATCH -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319605 LEXMATCH -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17464 LEXMATCH -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017905 LEXMATCH -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017905 LEXMATCH -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319605 LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319635 LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17466 LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017906 LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017906 LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319635 LEXMATCH -MONDO:0017907 primary lymphoma of the conjunctiva skos:closeMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319667 LEXMATCH -MONDO:0017907 primary lymphoma of the conjunctiva skos:closeMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21426 LEXMATCH -MONDO:0017907 primary lymphoma of the conjunctiva skos:closeMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017907 LEXMATCH -MONDO:0017907 primary lymphoma of the conjunctiva skos:closeMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017907 LEXMATCH -MONDO:0017907 primary lymphoma of the conjunctiva skos:closeMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319667 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:32 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10047 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017909 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017909 LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:32 LEXMATCH -MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3202 LEXMATCH -MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5623 LEXMATCH -MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017910 LEXMATCH -MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017910 LEXMATCH -MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3202 LEXMATCH -MONDO:0017913 pure or complex hereditary spastic paraplegia skos:closeMatch Orphanet:320335 Pure or complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21429 LEXMATCH -MONDO:0017913 pure or complex hereditary spastic paraplegia skos:closeMatch Orphanet:320335 Pure or complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017913 LEXMATCH -MONDO:0017913 pure or complex hereditary spastic paraplegia skos:closeMatch Orphanet:320335 Pure or complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017913 LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:closeMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:320360 LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:closeMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21433 LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:closeMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017917 LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:closeMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017917 LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:closeMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:320360 LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931292 LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3207 LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5560 LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017918 LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017918 LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3207 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:322 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2207 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017919 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017919 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:322 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850321 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:258040 LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:258040 LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931654 LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3224 LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4303 LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017920 LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017920 LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3224 LEXMATCH -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:closeMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3225 LEXMATCH -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:closeMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18788 LEXMATCH -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:closeMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017921 LEXMATCH -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:closeMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017921 LEXMATCH -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:closeMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3225 LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3237 LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3836 LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017923 LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017923 LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3237 LEXMATCH -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:closeMatch Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3240 LEXMATCH -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:closeMatch Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18789 LEXMATCH -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:closeMatch Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017924 LEXMATCH -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:closeMatch Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017924 LEXMATCH -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:closeMatch Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3240 LEXMATCH -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324294 LEXMATCH -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17483 LEXMATCH -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017925 LEXMATCH -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017925 LEXMATCH -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324294 LEXMATCH -MONDO:0017926 multiple paragangliomas associated with polycythemia skos:closeMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324299 LEXMATCH -MONDO:0017926 multiple paragangliomas associated with polycythemia skos:closeMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21435 LEXMATCH -MONDO:0017926 multiple paragangliomas associated with polycythemia skos:closeMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017926 LEXMATCH -MONDO:0017926 multiple paragangliomas associated with polycythemia skos:closeMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017926 LEXMATCH -MONDO:0017926 multiple paragangliomas associated with polycythemia skos:closeMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324299 LEXMATCH -MONDO:0017927 severe lateral tibial bowing with short stature skos:closeMatch Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324307 LEXMATCH -MONDO:0017927 severe lateral tibial bowing with short stature skos:closeMatch Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21436 LEXMATCH -MONDO:0017927 severe lateral tibial bowing with short stature skos:closeMatch Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017927 LEXMATCH -MONDO:0017927 severe lateral tibial bowing with short stature skos:closeMatch Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017927 LEXMATCH -MONDO:0017927 severe lateral tibial bowing with short stature skos:closeMatch Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324307 LEXMATCH -MONDO:0017928 9p13 microdeletion syndrome skos:closeMatch Orphanet:324313 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324313 LEXMATCH -MONDO:0017928 9p13 microdeletion syndrome skos:closeMatch Orphanet:324313 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21437 LEXMATCH -MONDO:0017928 9p13 microdeletion syndrome skos:closeMatch Orphanet:324313 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017928 LEXMATCH -MONDO:0017928 9p13 microdeletion syndrome skos:closeMatch Orphanet:324313 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017928 LEXMATCH -MONDO:0017928 9p13 microdeletion syndrome skos:closeMatch Orphanet:324313 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324313 LEXMATCH -MONDO:0017929 congenital achiasma skos:closeMatch Orphanet:324353 Congenital achiasma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324353 LEXMATCH -MONDO:0017929 congenital achiasma skos:closeMatch Orphanet:324353 Congenital achiasma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21438 LEXMATCH -MONDO:0017929 congenital achiasma skos:closeMatch Orphanet:324353 Congenital achiasma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017929 LEXMATCH -MONDO:0017929 congenital achiasma skos:closeMatch Orphanet:324353 Congenital achiasma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017929 LEXMATCH -MONDO:0017929 congenital achiasma skos:closeMatch Orphanet:324353 Congenital achiasma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324353 LEXMATCH -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:closeMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324364 LEXMATCH -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:closeMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21439 LEXMATCH -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:closeMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017930 LEXMATCH -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:closeMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017930 LEXMATCH -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:closeMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324364 LEXMATCH -MONDO:0017931 hereditary inclusion body myopathy type 4 skos:closeMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324381 LEXMATCH -MONDO:0017931 hereditary inclusion body myopathy type 4 skos:closeMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21440 LEXMATCH -MONDO:0017931 hereditary inclusion body myopathy type 4 skos:closeMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017931 LEXMATCH -MONDO:0017931 hereditary inclusion body myopathy type 4 skos:closeMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017931 LEXMATCH -MONDO:0017931 hereditary inclusion body myopathy type 4 skos:closeMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324381 LEXMATCH -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:closeMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324416 LEXMATCH -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:closeMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21441 LEXMATCH -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:closeMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017932 LEXMATCH -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:closeMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017932 LEXMATCH -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:closeMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324416 LEXMATCH -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:closeMatch Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324525 LEXMATCH -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:closeMatch Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21442 LEXMATCH -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:closeMatch Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017933 LEXMATCH -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:closeMatch Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017933 LEXMATCH -MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation skos:closeMatch Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324525 LEXMATCH -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:closeMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324540 LEXMATCH -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:closeMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21443 LEXMATCH -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:closeMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017934 LEXMATCH -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:closeMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017934 LEXMATCH -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:closeMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324540 LEXMATCH -MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:closeMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324575 LEXMATCH -MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:closeMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21444 LEXMATCH -MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:closeMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017935 LEXMATCH -MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:closeMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017935 LEXMATCH -MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:closeMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324575 LEXMATCH -MONDO:0017936 benign Samaritan congenital myopathy skos:closeMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324581 LEXMATCH -MONDO:0017936 benign Samaritan congenital myopathy skos:closeMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21445 LEXMATCH -MONDO:0017936 benign Samaritan congenital myopathy skos:closeMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017936 LEXMATCH -MONDO:0017936 benign Samaritan congenital myopathy skos:closeMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017936 LEXMATCH -MONDO:0017936 benign Samaritan congenital myopathy skos:closeMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324581 LEXMATCH -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:closeMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324585 LEXMATCH -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:closeMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21446 LEXMATCH -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:closeMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017937 LEXMATCH -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:closeMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017937 LEXMATCH -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:closeMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324585 LEXMATCH -MONDO:0017939 minicore myopathy skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324604 LEXMATCH -MONDO:0017939 minicore myopathy skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13661 LEXMATCH -MONDO:0017939 minicore myopathy skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017939 LEXMATCH -MONDO:0017939 minicore myopathy skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017939 LEXMATCH -MONDO:0017939 minicore myopathy skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324604 LEXMATCH -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:closeMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324611 LEXMATCH -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:closeMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21447 LEXMATCH -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:closeMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017940 LEXMATCH -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:closeMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017940 LEXMATCH -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:closeMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324611 LEXMATCH -MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008055 LEXMATCH -MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324625 LEXMATCH -MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6038 LEXMATCH -MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017941 LEXMATCH -MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017941 LEXMATCH -MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324625 LEXMATCH -MONDO:0017942 Hendra virus infection skos:closeMatch Orphanet:324632 Hendra virus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324632 LEXMATCH -MONDO:0017942 Hendra virus infection skos:closeMatch Orphanet:324632 Hendra virus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21448 LEXMATCH -MONDO:0017942 Hendra virus infection skos:closeMatch Orphanet:324632 Hendra virus infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017942 LEXMATCH -MONDO:0017942 Hendra virus infection skos:closeMatch Orphanet:324632 Hendra virus infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017942 LEXMATCH -MONDO:0017942 Hendra virus infection skos:closeMatch Orphanet:324632 Hendra virus infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324632 LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0301928 LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324636 LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6481 LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017943 LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017943 LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324636 LEXMATCH -MONDO:0017944 invasive non-typhoidal salmonellosis skos:closeMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324648 LEXMATCH -MONDO:0017944 invasive non-typhoidal salmonellosis skos:closeMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21449 LEXMATCH -MONDO:0017944 invasive non-typhoidal salmonellosis skos:closeMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017944 LEXMATCH -MONDO:0017944 invasive non-typhoidal salmonellosis skos:closeMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017944 LEXMATCH -MONDO:0017944 invasive non-typhoidal salmonellosis skos:closeMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324648 LEXMATCH -MONDO:0017945 ABetaL34V amyloidosis skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324703 LEXMATCH -MONDO:0017945 ABetaL34V amyloidosis skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17489 LEXMATCH -MONDO:0017945 ABetaL34V amyloidosis skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017945 LEXMATCH -MONDO:0017945 ABetaL34V amyloidosis skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017945 LEXMATCH -MONDO:0017945 ABetaL34V amyloidosis skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324703 LEXMATCH -MONDO:0017946 ABeta amyloidosis, Iowa type skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324708 LEXMATCH -MONDO:0017946 ABeta amyloidosis, Iowa type skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17490 LEXMATCH -MONDO:0017946 ABeta amyloidosis, Iowa type skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017946 LEXMATCH -MONDO:0017946 ABeta amyloidosis, Iowa type skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017946 LEXMATCH -MONDO:0017946 ABeta amyloidosis, Iowa type skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324708 LEXMATCH -MONDO:0017947 ABeta amyloidosis, Italian type skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324713 LEXMATCH -MONDO:0017947 ABeta amyloidosis, Italian type skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17491 LEXMATCH -MONDO:0017947 ABeta amyloidosis, Italian type skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017947 LEXMATCH -MONDO:0017947 ABeta amyloidosis, Italian type skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017947 LEXMATCH -MONDO:0017947 ABeta amyloidosis, Italian type skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324713 LEXMATCH -MONDO:0017948 ABetaA21G amyloidosis skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324718 LEXMATCH -MONDO:0017948 ABetaA21G amyloidosis skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17492 LEXMATCH -MONDO:0017948 ABetaA21G amyloidosis skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017948 LEXMATCH -MONDO:0017948 ABetaA21G amyloidosis skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017948 LEXMATCH -MONDO:0017948 ABetaA21G amyloidosis skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324718 LEXMATCH -MONDO:0017949 ABeta amyloidosis, Arctic type skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324723 LEXMATCH -MONDO:0017949 ABeta amyloidosis, Arctic type skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17493 LEXMATCH -MONDO:0017949 ABeta amyloidosis, Arctic type skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017949 LEXMATCH -MONDO:0017949 ABeta amyloidosis, Arctic type skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017949 LEXMATCH -MONDO:0017949 ABeta amyloidosis, Arctic type skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324723 LEXMATCH -MONDO:0017950 microcephalic primordial dwarfism skos:closeMatch Orphanet:324761 Microcephalic primordial dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21450 LEXMATCH -MONDO:0017950 microcephalic primordial dwarfism skos:closeMatch Orphanet:324761 Microcephalic primordial dwarfism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017950 LEXMATCH -MONDO:0017950 microcephalic primordial dwarfism skos:closeMatch Orphanet:324761 Microcephalic primordial dwarfism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017950 LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265255 LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324764 LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21451 LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017951 LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017951 LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324764 LEXMATCH -MONDO:0017953 hereditary periodic fever syndrome skos:closeMatch Orphanet:324924 Hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21453 LEXMATCH -MONDO:0017953 hereditary periodic fever syndrome skos:closeMatch Orphanet:324924 Hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017953 LEXMATCH -MONDO:0017953 hereditary periodic fever syndrome skos:closeMatch Orphanet:324924 Hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017953 LEXMATCH -MONDO:0017958 magic syndrome skos:closeMatch Orphanet:324972 MAGIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324972 LEXMATCH -MONDO:0017958 magic syndrome skos:closeMatch Orphanet:324972 MAGIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13371 LEXMATCH -MONDO:0017958 magic syndrome skos:closeMatch Orphanet:324972 MAGIC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017958 LEXMATCH -MONDO:0017958 magic syndrome skos:closeMatch Orphanet:324972 MAGIC syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017958 LEXMATCH -MONDO:0017958 magic syndrome skos:closeMatch Orphanet:324972 MAGIC syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324972 LEXMATCH -MONDO:0017967 testicular agenesis skos:closeMatch Orphanet:325124 Testicular agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325124 LEXMATCH -MONDO:0017967 testicular agenesis skos:closeMatch Orphanet:325124 Testicular agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5819 LEXMATCH -MONDO:0017967 testicular agenesis skos:closeMatch Orphanet:325124 Testicular agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017967 LEXMATCH -MONDO:0017967 testicular agenesis skos:closeMatch Orphanet:325124 Testicular agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017967 LEXMATCH -MONDO:0017967 testicular agenesis skos:closeMatch Orphanet:325124 Testicular agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325124 LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:closeMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325345 LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:closeMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21469 LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:closeMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017968 LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:closeMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017968 LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:closeMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325345 LEXMATCH -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325524 LEXMATCH -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21473 LEXMATCH -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017972 LEXMATCH -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017972 LEXMATCH -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325524 LEXMATCH -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325529 LEXMATCH -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21474 LEXMATCH -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017973 LEXMATCH -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017973 LEXMATCH -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325529 LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:closeMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:325546 LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:closeMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21476 LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:closeMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017975 LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:closeMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017975 LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:closeMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:325546 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069521 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328840 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3261 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8686 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017979 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017979 LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3261 LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:closeMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3262 LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:closeMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5092 LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:closeMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017980 LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:closeMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017980 LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:closeMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3262 LEXMATCH -MONDO:0017981 syngnathia-cleft palate syndrome skos:closeMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3263 LEXMATCH -MONDO:0017981 syngnathia-cleft palate syndrome skos:closeMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5091 LEXMATCH -MONDO:0017981 syngnathia-cleft palate syndrome skos:closeMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017981 LEXMATCH -MONDO:0017981 syngnathia-cleft palate syndrome skos:closeMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017981 LEXMATCH -MONDO:0017981 syngnathia-cleft palate syndrome skos:closeMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3263 LEXMATCH -MONDO:0017983 humero-radio-ulnar synostosis skos:closeMatch Orphanet:3266 Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3266 LEXMATCH -MONDO:0017983 humero-radio-ulnar synostosis skos:closeMatch Orphanet:3266 Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2749 LEXMATCH -MONDO:0017983 humero-radio-ulnar synostosis skos:closeMatch Orphanet:3266 Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017983 LEXMATCH -MONDO:0017983 humero-radio-ulnar synostosis skos:closeMatch Orphanet:3266 Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017983 LEXMATCH -MONDO:0017983 humero-radio-ulnar synostosis skos:closeMatch Orphanet:3266 Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3266 LEXMATCH -MONDO:0017985 congenital radioulnar synostosis skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3269 LEXMATCH -MONDO:0017985 congenital radioulnar synostosis skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10876 LEXMATCH -MONDO:0017985 congenital radioulnar synostosis skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017985 LEXMATCH -MONDO:0017985 congenital radioulnar synostosis skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017985 LEXMATCH -MONDO:0017985 congenital radioulnar synostosis skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3269 LEXMATCH -MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch Orphanet:3276 Disorder of plasmalogens biosynthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18790 LEXMATCH -MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch Orphanet:3276 Disorder of plasmalogens biosynthesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017986 LEXMATCH -MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch Orphanet:3276 Disorder of plasmalogens biosynthesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017986 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042928 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3280 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7725 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydromyelia LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017987 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017987 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3280 LEXMATCH -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221158 LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3282 LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1235 LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017988 LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017988 LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3282 LEXMATCH -MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039235 LEXMATCH -MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3283 LEXMATCH -MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2706 LEXMATCH -MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017989 LEXMATCH -MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017989 LEXMATCH -MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3283 LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1631597 LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3286 LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4421 LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017990 LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017990 LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3286 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043097 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207600 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039263 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3287 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7730 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017991 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017991 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207600 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3287 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99079 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19639 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017991 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017991 LEXMATCH -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99079 LEXMATCH -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329173 LEXMATCH -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17494 LEXMATCH -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017992 LEXMATCH -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017992 LEXMATCH -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329173 LEXMATCH -MONDO:0017993 cerebral sinovenous thrombosis skos:closeMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329217 LEXMATCH -MONDO:0017993 cerebral sinovenous thrombosis skos:closeMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21485 LEXMATCH -MONDO:0017993 cerebral sinovenous thrombosis skos:closeMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017993 LEXMATCH -MONDO:0017993 cerebral sinovenous thrombosis skos:closeMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017993 LEXMATCH -MONDO:0017993 cerebral sinovenous thrombosis skos:closeMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329217 LEXMATCH -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:closeMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329249 LEXMATCH -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:closeMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21486 LEXMATCH -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:closeMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017994 LEXMATCH -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:closeMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017994 LEXMATCH -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:closeMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329249 LEXMATCH -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:closeMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3293 LEXMATCH -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:closeMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18791 LEXMATCH -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:closeMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017997 LEXMATCH -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:closeMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017997 LEXMATCH -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:closeMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3293 LEXMATCH -MONDO:0017998 PLA2G6-associated neurodegeneration skos:closeMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12567 LEXMATCH -MONDO:0017998 PLA2G6-associated neurodegeneration skos:closeMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017998 LEXMATCH -MONDO:0017998 PLA2G6-associated neurodegeneration skos:closeMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017998 LEXMATCH -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329308 LEXMATCH -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10810 LEXMATCH -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017999 LEXMATCH -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0017999 LEXMATCH -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329308 LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329319 LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21487 LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocythemia with distal limb defects LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018000 LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018000 LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329319 LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329324 LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21488 LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inverse klippel-trénaunay syndrome LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018001 LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018001 LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:closeMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329324 LEXMATCH -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329336 LEXMATCH -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17503 LEXMATCH -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018002 LEXMATCH -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018002 LEXMATCH -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329336 LEXMATCH -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:closeMatch Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329469 LEXMATCH -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:closeMatch Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21490 LEXMATCH -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:closeMatch Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018004 LEXMATCH -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:closeMatch Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018004 LEXMATCH -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:closeMatch Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329469 LEXMATCH -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:closeMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329475 LEXMATCH -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:closeMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21491 LEXMATCH -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:closeMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018005 LEXMATCH -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:closeMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018005 LEXMATCH -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:closeMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329475 LEXMATCH -MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:closeMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329478 LEXMATCH -MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:closeMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21492 LEXMATCH -MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:closeMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018006 LEXMATCH -MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:closeMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018006 LEXMATCH -MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:closeMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329478 LEXMATCH -MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:closeMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329813 LEXMATCH -MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:closeMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21493 LEXMATCH -MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:closeMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018007 LEXMATCH -MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:closeMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018007 LEXMATCH -MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:closeMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329813 LEXMATCH -MONDO:0018008 idiopathic giant cell myocarditis skos:closeMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329874 LEXMATCH -MONDO:0018008 idiopathic giant cell myocarditis skos:closeMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21494 LEXMATCH -MONDO:0018008 idiopathic giant cell myocarditis skos:closeMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018008 LEXMATCH -MONDO:0018008 idiopathic giant cell myocarditis skos:closeMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018008 LEXMATCH -MONDO:0018008 idiopathic giant cell myocarditis skos:closeMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329874 LEXMATCH -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:closeMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329883 LEXMATCH -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:closeMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21495 LEXMATCH -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:closeMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018009 LEXMATCH -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:closeMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018009 LEXMATCH -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:closeMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329883 LEXMATCH -MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:closeMatch Orphanet:329888 Juvenile idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21496 LEXMATCH -MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:closeMatch Orphanet:329888 Juvenile idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018010 LEXMATCH -MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:closeMatch Orphanet:329888 Juvenile idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018010 LEXMATCH -MONDO:0018011 juvenile overlap myositis skos:closeMatch Orphanet:329894 Juvenile overlap myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329894 LEXMATCH -MONDO:0018011 juvenile overlap myositis skos:closeMatch Orphanet:329894 Juvenile overlap myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21497 LEXMATCH -MONDO:0018011 juvenile overlap myositis skos:closeMatch Orphanet:329894 Juvenile overlap myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018011 LEXMATCH -MONDO:0018011 juvenile overlap myositis skos:closeMatch Orphanet:329894 Juvenile overlap myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018011 LEXMATCH -MONDO:0018011 juvenile overlap myositis skos:closeMatch Orphanet:329894 Juvenile overlap myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329894 LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329918 LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17507 LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018013 LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018013 LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329918 LEXMATCH -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329942 LEXMATCH -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21498 LEXMATCH -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018014 LEXMATCH -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018014 LEXMATCH -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329942 LEXMATCH -MONDO:0018015 intermittent hydrarthrosis skos:closeMatch Orphanet:329967 Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329967 LEXMATCH -MONDO:0018015 intermittent hydrarthrosis skos:closeMatch Orphanet:329967 Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21499 LEXMATCH -MONDO:0018015 intermittent hydrarthrosis skos:closeMatch Orphanet:329967 Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018015 LEXMATCH -MONDO:0018015 intermittent hydrarthrosis skos:closeMatch Orphanet:329967 Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018015 LEXMATCH -MONDO:0018015 intermittent hydrarthrosis skos:closeMatch Orphanet:329967 Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329967 LEXMATCH -MONDO:0018016 classic neuroendocrine tumor of appendix skos:closeMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329977 LEXMATCH -MONDO:0018016 classic neuroendocrine tumor of appendix skos:closeMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21500 LEXMATCH -MONDO:0018016 classic neuroendocrine tumor of appendix skos:closeMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018016 LEXMATCH -MONDO:0018016 classic neuroendocrine tumor of appendix skos:closeMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018016 LEXMATCH -MONDO:0018016 classic neuroendocrine tumor of appendix skos:closeMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329977 LEXMATCH -MONDO:0018017 goblet cell carcinoma skos:closeMatch Orphanet:329984 Goblet cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329984 LEXMATCH -MONDO:0018017 goblet cell carcinoma skos:closeMatch Orphanet:329984 Goblet cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10414 LEXMATCH -MONDO:0018017 goblet cell carcinoma skos:closeMatch Orphanet:329984 Goblet cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018017 LEXMATCH -MONDO:0018017 goblet cell carcinoma skos:closeMatch Orphanet:329984 Goblet cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018017 LEXMATCH -MONDO:0018017 goblet cell carcinoma skos:closeMatch Orphanet:329984 Goblet cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329984 LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330001 LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21501 LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018018 LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018018 LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330001 LEXMATCH -MONDO:0018019 lead poisoning skos:closeMatch Orphanet:330015 Lead poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330015 LEXMATCH -MONDO:0018019 lead poisoning skos:closeMatch Orphanet:330015 Lead poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21503 LEXMATCH -MONDO:0018019 lead poisoning skos:closeMatch Orphanet:330015 Lead poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018019 LEXMATCH -MONDO:0018019 lead poisoning skos:closeMatch Orphanet:330015 Lead poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018019 LEXMATCH -MONDO:0018019 lead poisoning skos:closeMatch Orphanet:330015 Lead poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330015 LEXMATCH -MONDO:0018020 mercury poisoning skos:closeMatch Orphanet:330021 Mercury poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330021 LEXMATCH -MONDO:0018020 mercury poisoning skos:closeMatch Orphanet:330021 Mercury poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7021 LEXMATCH -MONDO:0018020 mercury poisoning skos:closeMatch Orphanet:330021 Mercury poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018020 LEXMATCH -MONDO:0018020 mercury poisoning skos:closeMatch Orphanet:330021 Mercury poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018020 LEXMATCH -MONDO:0018020 mercury poisoning skos:closeMatch Orphanet:330021 Mercury poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330021 LEXMATCH -MONDO:0018021 hypotrichosis-deafness syndrome skos:closeMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330029 LEXMATCH -MONDO:0018021 hypotrichosis-deafness syndrome skos:closeMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21504 LEXMATCH -MONDO:0018021 hypotrichosis-deafness syndrome skos:closeMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018021 LEXMATCH -MONDO:0018021 hypotrichosis-deafness syndrome skos:closeMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018021 LEXMATCH -MONDO:0018021 hypotrichosis-deafness syndrome skos:closeMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330029 LEXMATCH -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:closeMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330032 LEXMATCH -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:closeMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21505 LEXMATCH -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:closeMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018022 LEXMATCH -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:closeMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018022 LEXMATCH -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:closeMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330032 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617971 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330041 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16276 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13007 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018023 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018023 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617971 LEXMATCH -MONDO:0018023 hemoglobin M disease skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330041 LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020241 LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330058 LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9654 LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018024 LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018024 LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:closeMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330058 LEXMATCH -MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330064 LEXMATCH -MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21506 LEXMATCH -MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018025 LEXMATCH -MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018025 LEXMATCH -MONDO:0018025 chronic actinic dermatitis skos:closeMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330064 LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057891 LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3305 LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5151 LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018026 LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018026 LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3305 LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3306 LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5153 LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isodicentric chromosome 15 syndrome LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018027 LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018027 LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3306 LEXMATCH -MONDO:0018028 tetrasomy 5p skos:closeMatch Orphanet:3309 Tetrasomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3309 LEXMATCH -MONDO:0018028 tetrasomy 5p skos:closeMatch Orphanet:3309 Tetrasomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18792 LEXMATCH -MONDO:0018028 tetrasomy 5p skos:closeMatch Orphanet:3309 Tetrasomy 5p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018028 LEXMATCH -MONDO:0018028 tetrasomy 5p skos:closeMatch Orphanet:3309 Tetrasomy 5p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018028 LEXMATCH -MONDO:0018028 tetrasomy 5p skos:closeMatch Orphanet:3309 Tetrasomy 5p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3309 LEXMATCH -MONDO:0018029 congenital factor XIII deficiency skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331 LEXMATCH -MONDO:0018029 congenital factor XIII deficiency skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10766 LEXMATCH -MONDO:0018029 congenital factor XIII deficiency skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018029 LEXMATCH -MONDO:0018029 congenital factor XIII deficiency skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018029 LEXMATCH -MONDO:0018029 congenital factor XIII deficiency skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538027 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795832 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3310 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:42 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018030 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018030 LEXMATCH -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3310 LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376407 LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33111 LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10986 LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018031 LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018031 LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33111 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071249 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432365 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3312 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2313 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018034 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018034 LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3312 LEXMATCH -MONDO:0018037 hyper-IgE syndrome skos:closeMatch Orphanet:331223 Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331223 LEXMATCH -MONDO:0018037 hyper-IgE syndrome skos:closeMatch Orphanet:331223 Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10956 LEXMATCH -MONDO:0018037 hyper-IgE syndrome skos:closeMatch Orphanet:331223 Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018037 LEXMATCH -MONDO:0018037 hyper-IgE syndrome skos:closeMatch Orphanet:331223 Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018037 LEXMATCH -MONDO:0018037 hyper-IgE syndrome skos:closeMatch Orphanet:331223 Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331223 LEXMATCH -MONDO:0018039 selective IgM deficiency skos:closeMatch Orphanet:331235 Selective IgM deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:331235 LEXMATCH -MONDO:0018039 selective IgM deficiency skos:closeMatch Orphanet:331235 Selective IgM deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12547 LEXMATCH -MONDO:0018039 selective IgM deficiency skos:closeMatch Orphanet:331235 Selective IgM deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018039 LEXMATCH -MONDO:0018039 selective IgM deficiency skos:closeMatch Orphanet:331235 Selective IgM deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018039 LEXMATCH -MONDO:0018039 selective IgM deficiency skos:closeMatch Orphanet:331235 Selective IgM deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:331235 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3316 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5175 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018043 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018043 LEXMATCH -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3316 LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751757 LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33208 LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8737 LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018044 LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018044 LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33208 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846142 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3322 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:346 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018045 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018045 LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3322 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931365 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3324 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5195 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018047 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018047 LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3324 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062506 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272285 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3325 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2650 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018048 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018048 LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3325 LEXMATCH -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3329 LEXMATCH -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1369 LEXMATCH -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018050 LEXMATCH -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018050 LEXMATCH -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3329 LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580181 LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33314 LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6940 LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018051 LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018051 LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33314 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044628 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33364 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12109 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018053 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018053 LEXMATCH -MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33364 LEXMATCH -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:334 LEXMATCH -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9740 LEXMATCH -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018054 LEXMATCH -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018054 LEXMATCH -MONDO:0018054 familial atrial fibrillation skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:334 LEXMATCH -MONDO:0018055 pediatric hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33402 LEXMATCH -MONDO:0018055 pediatric hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9331 LEXMATCH -MONDO:0018055 pediatric hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018055 LEXMATCH -MONDO:0018055 pediatric hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018055 LEXMATCH -MONDO:0018055 pediatric hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33402 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056960 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023648 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33408 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18808 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018056 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018056 LEXMATCH -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33408 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261567 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3346 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5233 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018058 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018058 LEXMATCH -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3346 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027249 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025294 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33475 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18809 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018059 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018059 LEXMATCH -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33475 LEXMATCH -MONDO:0018060 congenital fibrinogen deficiency skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:335 LEXMATCH -MONDO:0018060 congenital fibrinogen deficiency skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2320 LEXMATCH -MONDO:0018060 congenital fibrinogen deficiency skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018060 LEXMATCH -MONDO:0018060 congenital fibrinogen deficiency skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018060 LEXMATCH -MONDO:0018060 congenital fibrinogen deficiency skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:335 LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931485 LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3353 LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4369 LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018061 LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018061 LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3353 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047883 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030328 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33577 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7879 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018063 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018063 LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33577 LEXMATCH -MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:closeMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3365 LEXMATCH -MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:closeMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2756 LEXMATCH -MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:closeMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018064 LEXMATCH -MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:closeMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018064 LEXMATCH -MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:closeMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3365 LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3366 LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16626 LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018065 LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018065 LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3366 LEXMATCH -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221033 LEXMATCH -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3375 LEXMATCH -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5672 LEXMATCH -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018066 LEXMATCH -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018066 LEXMATCH -MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3375 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0333693 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3376 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5295 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018067 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018067 LEXMATCH -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3376 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044686 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152095 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3378 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7341 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018068 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018068 LEXMATCH -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3378 LEXMATCH -MONDO:0018069 distal trisomy 17q skos:closeMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3379 LEXMATCH -MONDO:0018069 distal trisomy 17q skos:closeMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18794 LEXMATCH -MONDO:0018069 distal trisomy 17q skos:closeMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018069 LEXMATCH -MONDO:0018069 distal trisomy 17q skos:closeMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018069 LEXMATCH -MONDO:0018069 distal trisomy 17q skos:closeMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3379 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053884 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3380 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6321 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018071 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018071 LEXMATCH -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3380 LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3384 LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16627 LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018072 LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018072 LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3384 LEXMATCH -MONDO:0018075 neural tube defect skos:closeMatch Orphanet:3388 Neural tube defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18796 LEXMATCH -MONDO:0018075 neural tube defect skos:closeMatch Orphanet:3388 Neural tube defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018075 LEXMATCH -MONDO:0018075 neural tube defect skos:closeMatch Orphanet:3388 Neural tube defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018075 LEXMATCH -MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044755 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041296 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3389 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7827 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018076 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018076 LEXMATCH -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3389 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045146 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041351 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3392 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:396 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018077 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018077 LEXMATCH -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3392 LEXMATCH -MONDO:0018078 soft tissue sarcoma skos:closeMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4898 LEXMATCH -MONDO:0018078 soft tissue sarcoma skos:closeMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018078 LEXMATCH -MONDO:0018078 soft tissue sarcoma skos:closeMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018078 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266101 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3398 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5201 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018079 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018079 LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3398 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023484 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:340 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18689 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018081 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018081 LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:340 LEXMATCH -MONDO:0018082 aorto-ventricular tunnel skos:closeMatch Orphanet:3400 Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3400 LEXMATCH -MONDO:0018082 aorto-ventricular tunnel skos:closeMatch Orphanet:3400 Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18798 LEXMATCH -MONDO:0018082 aorto-ventricular tunnel skos:closeMatch Orphanet:3400 Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018082 LEXMATCH -MONDO:0018082 aorto-ventricular tunnel skos:closeMatch Orphanet:3400 Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018082 LEXMATCH -MONDO:0018082 aorto-ventricular tunnel skos:closeMatch Orphanet:3400 Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3400 LEXMATCH -MONDO:0018083 transient tyrosinemia of the newborn skos:closeMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3402 LEXMATCH -MONDO:0018083 transient tyrosinemia of the newborn skos:closeMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5388 LEXMATCH -MONDO:0018083 transient tyrosinemia of the newborn skos:closeMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018083 LEXMATCH -MONDO:0018083 transient tyrosinemia of the newborn skos:closeMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018083 LEXMATCH -MONDO:0018083 transient tyrosinemia of the newborn skos:closeMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3402 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048951 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3403 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5393 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018084 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018084 LEXMATCH -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3403 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931371 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3405 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5403 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018085 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018085 LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3405 LEXMATCH -MONDO:0018086 ulerythema ophryogenesis skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3406 LEXMATCH -MONDO:0018086 ulerythema ophryogenesis skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5395 LEXMATCH -MONDO:0018086 ulerythema ophryogenesis skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018086 LEXMATCH -MONDO:0018086 ulerythema ophryogenesis skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018086 LEXMATCH -MONDO:0018086 ulerythema ophryogenesis skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3406 LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019104 LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:341 LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5494 LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018087 LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018087 LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:341 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016207 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031069 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:342 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6421 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018088 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018088 LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:342 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013611 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013069 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3426 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1908 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018089 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018089 LEXMATCH -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3426 LEXMATCH -MONDO:0018090 double outlet left ventricle skos:closeMatch Orphanet:3427 Double outlet left ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3427 LEXMATCH -MONDO:0018090 double outlet left ventricle skos:closeMatch Orphanet:3427 Double outlet left ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1907 LEXMATCH -MONDO:0018090 double outlet left ventricle skos:closeMatch Orphanet:3427 Double outlet left ventricle semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018090 LEXMATCH -MONDO:0018090 double outlet left ventricle skos:closeMatch Orphanet:3427 Double outlet left ventricle semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018090 LEXMATCH -MONDO:0018090 double outlet left ventricle skos:closeMatch Orphanet:3427 Double outlet left ventricle semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3427 LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931177 LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3433 LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5490 LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018091 LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018091 LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3433 LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042170 LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3437 LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7862 LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018092 LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018092 LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3437 LEXMATCH -MONDO:0018093 arbovirus fever skos:closeMatch Orphanet:344 Arbovirus fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18690 LEXMATCH -MONDO:0018093 arbovirus fever skos:closeMatch Orphanet:344 Arbovirus fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018093 LEXMATCH -MONDO:0018093 arbovirus fever skos:closeMatch Orphanet:344 Arbovirus fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018093 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069203 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3440 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5525 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018094 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018094 LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3440 LEXMATCH -MONDO:0018095 Weaver-Williams syndrome skos:closeMatch Orphanet:3448 Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3448 LEXMATCH -MONDO:0018095 Weaver-Williams syndrome skos:closeMatch Orphanet:3448 Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5545 LEXMATCH -MONDO:0018095 Weaver-Williams syndrome skos:closeMatch Orphanet:3448 Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018095 LEXMATCH -MONDO:0018095 Weaver-Williams syndrome skos:closeMatch Orphanet:3448 Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018095 LEXMATCH -MONDO:0018095 Weaver-Williams syndrome skos:closeMatch Orphanet:3448 Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3448 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265313 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3449 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4936 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018096 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018096 LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3449 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021750 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3451 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7887 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms syndrome LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018097 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018097 LEXMATCH -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3451 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011005 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010036 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34533 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18810 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018102 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018102 LEXMATCH -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34533 LEXMATCH -MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch Orphanet:346 Quinquaud folliculitis decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:346 LEXMATCH -MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch Orphanet:346 Quinquaud folliculitis decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:373 LEXMATCH -MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch Orphanet:346 Quinquaud folliculitis decalvans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018103 LEXMATCH -MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch Orphanet:346 Quinquaud folliculitis decalvans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018103 LEXMATCH -MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch Orphanet:346 Quinquaud folliculitis decalvans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:346 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043207 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3463 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7898 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018105 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018105 LEXMATCH -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3463 LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3467 LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16628 LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018106 LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018106 LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3467 LEXMATCH -MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:closeMatch Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35062 LEXMATCH -MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:closeMatch Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18811 LEXMATCH -MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:closeMatch Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018108 LEXMATCH -MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:closeMatch Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018108 LEXMATCH -MONDO:0018108 idiopathic disseminated cytomegalovirus infection skos:closeMatch Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35062 LEXMATCH -MONDO:0018109 fulminant viral hepatitis skos:closeMatch Orphanet:35063 Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35063 LEXMATCH -MONDO:0018109 fulminant viral hepatitis skos:closeMatch Orphanet:35063 Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18812 LEXMATCH -MONDO:0018109 fulminant viral hepatitis skos:closeMatch Orphanet:35063 Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018109 LEXMATCH -MONDO:0018109 fulminant viral hepatitis skos:closeMatch Orphanet:35063 Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018109 LEXMATCH -MONDO:0018109 fulminant viral hepatitis skos:closeMatch Orphanet:35063 Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35063 LEXMATCH -MONDO:0018112 isolated scaphocephaly skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35093 LEXMATCH -MONDO:0018112 isolated scaphocephaly skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16633 LEXMATCH -MONDO:0018112 isolated scaphocephaly skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018112 LEXMATCH -MONDO:0018112 isolated scaphocephaly skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018112 LEXMATCH -MONDO:0018112 isolated scaphocephaly skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35093 LEXMATCH -MONDO:0018114 isolated brachycephaly skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35099 LEXMATCH -MONDO:0018114 isolated brachycephaly skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16634 LEXMATCH -MONDO:0018114 isolated brachycephaly skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018114 LEXMATCH -MONDO:0018114 isolated brachycephaly skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018114 LEXMATCH -MONDO:0018114 isolated brachycephaly skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35099 LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014985 LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35125 LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18813 LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018115 LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018115 LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35125 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017604 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016952 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2424 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018116 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018116 LEXMATCH -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352 LEXMATCH -MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:closeMatch Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21516 LEXMATCH -MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:closeMatch Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018117 LEXMATCH -MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:closeMatch Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018117 LEXMATCH -MONDO:0018121 mitochondrial DNA maintenance syndrome skos:closeMatch Orphanet:352456 Mitochondrial DNA maintenance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21520 LEXMATCH -MONDO:0018121 mitochondrial DNA maintenance syndrome skos:closeMatch Orphanet:352456 Mitochondrial DNA maintenance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018121 LEXMATCH -MONDO:0018121 mitochondrial DNA maintenance syndrome skos:closeMatch Orphanet:352456 Mitochondrial DNA maintenance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018121 LEXMATCH -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:closeMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352530 LEXMATCH -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:closeMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21521 LEXMATCH -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:closeMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018123 LEXMATCH -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:closeMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018123 LEXMATCH -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:closeMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352530 LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274103 LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352540 LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9652 LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018124 LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018124 LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352540 LEXMATCH -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:closeMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352587 LEXMATCH -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:closeMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21522 LEXMATCH -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:closeMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018125 LEXMATCH -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:closeMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018125 LEXMATCH -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:closeMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352587 LEXMATCH -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352596 LEXMATCH -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17522 LEXMATCH -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018126 LEXMATCH -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018126 LEXMATCH -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352596 LEXMATCH -MONDO:0018127 16q24.1 microdeletion syndrome skos:closeMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352629 LEXMATCH -MONDO:0018127 16q24.1 microdeletion syndrome skos:closeMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21523 LEXMATCH -MONDO:0018127 16q24.1 microdeletion syndrome skos:closeMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018127 LEXMATCH -MONDO:0018127 16q24.1 microdeletion syndrome skos:closeMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018127 LEXMATCH -MONDO:0018127 16q24.1 microdeletion syndrome skos:closeMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352629 LEXMATCH -MONDO:0018128 phalangeal microgeodic syndrome skos:closeMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352636 LEXMATCH -MONDO:0018128 phalangeal microgeodic syndrome skos:closeMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21524 LEXMATCH -MONDO:0018128 phalangeal microgeodic syndrome skos:closeMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018128 LEXMATCH -MONDO:0018128 phalangeal microgeodic syndrome skos:closeMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018128 LEXMATCH -MONDO:0018128 phalangeal microgeodic syndrome skos:closeMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352636 LEXMATCH -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:closeMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352641 LEXMATCH -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:closeMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21525 LEXMATCH -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:closeMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018129 LEXMATCH -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:closeMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018129 LEXMATCH -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:closeMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352641 LEXMATCH -MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352649 LEXMATCH -MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13594 LEXMATCH -MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018130 LEXMATCH -MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018130 LEXMATCH -MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352649 LEXMATCH -MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:closeMatch Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352665 LEXMATCH -MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:closeMatch Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21526 LEXMATCH -MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:closeMatch Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018131 LEXMATCH -MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:closeMatch Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018131 LEXMATCH -MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion skos:closeMatch Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352665 LEXMATCH -MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:closeMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352723 LEXMATCH -MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:closeMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21527 LEXMATCH -MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:closeMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018133 LEXMATCH -MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:closeMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018133 LEXMATCH -MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:closeMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352723 LEXMATCH -MONDO:0018134 disorder of melanin metabolism skos:closeMatch Orphanet:352728 Disorder of melanin metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21528 LEXMATCH -MONDO:0018134 disorder of melanin metabolism skos:closeMatch Orphanet:352728 Disorder of melanin metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018134 LEXMATCH -MONDO:0018134 disorder of melanin metabolism skos:closeMatch Orphanet:352728 Disorder of melanin metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018134 LEXMATCH -MONDO:0018135 oculocutaneous albinism type 1 skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352731 LEXMATCH -MONDO:0018135 oculocutaneous albinism type 1 skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4037 LEXMATCH -MONDO:0018135 oculocutaneous albinism type 1 skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018135 LEXMATCH -MONDO:0018135 oculocutaneous albinism type 1 skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018135 LEXMATCH -MONDO:0018135 oculocutaneous albinism type 1 skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352731 LEXMATCH -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:closeMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352734 LEXMATCH -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:closeMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21529 LEXMATCH -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:closeMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018136 LEXMATCH -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:closeMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018136 LEXMATCH -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:closeMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352734 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:352737 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17530 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018137 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018137 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:352737 LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353308 LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17536 LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency, infantile type LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018141 LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018141 LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353308 LEXMATCH -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353314 LEXMATCH -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17537 LEXMATCH -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018142 LEXMATCH -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018142 LEXMATCH -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353314 LEXMATCH -MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353320 LEXMATCH -MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17538 LEXMATCH -MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018143 LEXMATCH -MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018143 LEXMATCH -MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353320 LEXMATCH -MONDO:0018145 congenital retinal arteriovenous communication skos:closeMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353334 LEXMATCH -MONDO:0018145 congenital retinal arteriovenous communication skos:closeMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21530 LEXMATCH -MONDO:0018145 congenital retinal arteriovenous communication skos:closeMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018145 LEXMATCH -MONDO:0018145 congenital retinal arteriovenous communication skos:closeMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018145 LEXMATCH -MONDO:0018145 congenital retinal arteriovenous communication skos:closeMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353334 LEXMATCH -MONDO:0018146 idiopathic macular telangiectasia type 1 skos:closeMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353344 LEXMATCH -MONDO:0018146 idiopathic macular telangiectasia type 1 skos:closeMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21531 LEXMATCH -MONDO:0018146 idiopathic macular telangiectasia type 1 skos:closeMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018146 LEXMATCH -MONDO:0018146 idiopathic macular telangiectasia type 1 skos:closeMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018146 LEXMATCH -MONDO:0018146 idiopathic macular telangiectasia type 1 skos:closeMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353344 LEXMATCH -MONDO:0018147 idiopathic macular telangiectasia type 3 skos:closeMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353351 LEXMATCH -MONDO:0018147 idiopathic macular telangiectasia type 3 skos:closeMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21532 LEXMATCH -MONDO:0018147 idiopathic macular telangiectasia type 3 skos:closeMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018147 LEXMATCH -MONDO:0018147 idiopathic macular telangiectasia type 3 skos:closeMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018147 LEXMATCH -MONDO:0018147 idiopathic macular telangiectasia type 3 skos:closeMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353351 LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:353356 LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21533 LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vasoproliferative tumor of the retina LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018148 LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018148 LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:353356 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085131 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:354 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10891 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018149 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018149 LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:354 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018048 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017205 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:355 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8233 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018150 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018150 LEXMATCH -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:355 LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843920 LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35656 LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10423 LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018151 LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018151 LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35656 LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729842 LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35686 LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:31 LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018152 LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018152 LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35686 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060801 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878675 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35687 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6369 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018153 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018153 LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35687 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036704 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154682 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35689 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10684 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018155 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018155 LEXMATCH -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35689 LEXMATCH -MONDO:0018156 3q26q27 microdeletion syndrome skos:closeMatch Orphanet:356947 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:356947 LEXMATCH -MONDO:0018156 3q26q27 microdeletion syndrome skos:closeMatch Orphanet:356947 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21534 LEXMATCH -MONDO:0018156 3q26q27 microdeletion syndrome skos:closeMatch Orphanet:356947 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018156 LEXMATCH -MONDO:0018156 3q26q27 microdeletion syndrome skos:closeMatch Orphanet:356947 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018156 LEXMATCH -MONDO:0018156 3q26q27 microdeletion syndrome skos:closeMatch Orphanet:356947 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:356947 LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059396 LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35698 LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13643 LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018158 LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018158 LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35698 LEXMATCH -MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357008 LEXMATCH -MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17543 LEXMATCH -MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018159 LEXMATCH -MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018159 LEXMATCH -MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357008 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357027 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17544 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018160 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018160 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180200 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357027 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180200 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180200 LEXMATCH -MONDO:0018161 non-hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357034 LEXMATCH -MONDO:0018161 non-hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17545 LEXMATCH -MONDO:0018161 non-hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018161 LEXMATCH -MONDO:0018161 non-hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018161 LEXMATCH -MONDO:0018161 non-hereditary retinoblastoma skos:closeMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357034 LEXMATCH -MONDO:0018162 neurometabolic disorder due to serine deficiency skos:closeMatch Orphanet:35705 Neurometabolic disorder due to serine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18815 LEXMATCH -MONDO:0018162 neurometabolic disorder due to serine deficiency skos:closeMatch Orphanet:35705 Neurometabolic disorder due to serine deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018162 LEXMATCH -MONDO:0018162 neurometabolic disorder due to serine deficiency skos:closeMatch Orphanet:35705 Neurometabolic disorder due to serine deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018162 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357058 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1638 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018163 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018163 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219200 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357058 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219200 LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219200 LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956395 LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357107 LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21535 LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018164 LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018164 LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357107 LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956396 LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357131 LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21536 LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018165 LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018165 LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357131 LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029172 LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357154 LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7264 LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018166 LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018166 LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357154 LEXMATCH -MONDO:0018167 primary essential cutis verticis gyrata skos:closeMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357220 LEXMATCH -MONDO:0018167 primary essential cutis verticis gyrata skos:closeMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21537 LEXMATCH -MONDO:0018167 primary essential cutis verticis gyrata skos:closeMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018167 LEXMATCH -MONDO:0018167 primary essential cutis verticis gyrata skos:closeMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018167 LEXMATCH -MONDO:0018167 primary essential cutis verticis gyrata skos:closeMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357220 LEXMATCH -MONDO:0018168 primary non-essential cutis verticis gyrata skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357225 LEXMATCH -MONDO:0018168 primary non-essential cutis verticis gyrata skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21538 LEXMATCH -MONDO:0018168 primary non-essential cutis verticis gyrata skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018168 LEXMATCH -MONDO:0018168 primary non-essential cutis verticis gyrata skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018168 LEXMATCH -MONDO:0018168 primary non-essential cutis verticis gyrata skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357225 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027974 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549307 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35737 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13354 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018169 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018169 LEXMATCH -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35737 LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3496337 LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:357502 LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21539 LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018170 LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018170 LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:357502 LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346180 LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35807 LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9330 LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018171 LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018171 LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35807 LEXMATCH -MONDO:0018172 malignant sex cord stromal tumor of ovary skos:closeMatch Orphanet:35808 Malignant sex cord stromal tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18816 LEXMATCH -MONDO:0018172 malignant sex cord stromal tumor of ovary skos:closeMatch Orphanet:35808 Malignant sex cord stromal tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018172 LEXMATCH -MONDO:0018172 malignant sex cord stromal tumor of ovary skos:closeMatch Orphanet:35808 Malignant sex cord stromal tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018172 LEXMATCH -MONDO:0018173 acute opioid poisoning skos:closeMatch Orphanet:35889 Acute opioid intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35889 LEXMATCH -MONDO:0018173 acute opioid poisoning skos:closeMatch Orphanet:35889 Acute opioid intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18817 LEXMATCH -MONDO:0018173 acute opioid poisoning skos:closeMatch Orphanet:35889 Acute opioid intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018173 LEXMATCH -MONDO:0018173 acute opioid poisoning skos:closeMatch Orphanet:35889 Acute opioid intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018173 LEXMATCH -MONDO:0018173 acute opioid poisoning skos:closeMatch Orphanet:35889 Acute opioid intoxication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35889 LEXMATCH -MONDO:0018174 hereditary glaucoma skos:closeMatch Orphanet:359 Pediatric-onset glaucoma of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2486 LEXMATCH -MONDO:0018174 hereditary glaucoma skos:closeMatch Orphanet:359 Pediatric-onset glaucoma of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018174 LEXMATCH -MONDO:0018174 hereditary glaucoma skos:closeMatch Orphanet:359 Pediatric-onset glaucoma of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018174 LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856883 LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35909 LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16639 LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018175 LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018175 LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35909 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018336 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018337 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:360 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2491 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018177 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018177 LEXMATCH -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:360 LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025213 LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36204 LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12331 LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018178 LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018178 LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36204 LEXMATCH -MONDO:0018180 staphylococcal scarlet fever skos:closeMatch Orphanet:36235 Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36235 LEXMATCH -MONDO:0018180 staphylococcal scarlet fever skos:closeMatch Orphanet:36235 Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18819 LEXMATCH -MONDO:0018180 staphylococcal scarlet fever skos:closeMatch Orphanet:36235 Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018180 LEXMATCH -MONDO:0018180 staphylococcal scarlet fever skos:closeMatch Orphanet:36235 Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018180 LEXMATCH -MONDO:0018180 staphylococcal scarlet fever skos:closeMatch Orphanet:36235 Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36235 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041929 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038165 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36236 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13158 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018181 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018181 LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36236 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006563 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021100 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36237 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18820 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018182 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018182 LEXMATCH -MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36237 LEXMATCH -MONDO:0018183 staphylococcal necrotizing pneumonia skos:closeMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36238 LEXMATCH -MONDO:0018183 staphylococcal necrotizing pneumonia skos:closeMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18821 LEXMATCH -MONDO:0018183 staphylococcal necrotizing pneumonia skos:closeMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018183 LEXMATCH -MONDO:0018183 staphylococcal necrotizing pneumonia skos:closeMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018183 LEXMATCH -MONDO:0018183 staphylococcal necrotizing pneumonia skos:closeMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36238 LEXMATCH -MONDO:0018184 gastric linitis plastica skos:closeMatch Orphanet:36273 Gastric linitis plastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36273 LEXMATCH -MONDO:0018184 gastric linitis plastica skos:closeMatch Orphanet:36273 Gastric linitis plastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18822 LEXMATCH -MONDO:0018184 gastric linitis plastica skos:closeMatch Orphanet:36273 Gastric linitis plastica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018184 LEXMATCH -MONDO:0018184 gastric linitis plastica skos:closeMatch Orphanet:36273 Gastric linitis plastica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018184 LEXMATCH -MONDO:0018184 gastric linitis plastica skos:closeMatch Orphanet:36273 Gastric linitis plastica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36273 LEXMATCH -MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363429 LEXMATCH -MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17556 LEXMATCH -MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018189 LEXMATCH -MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018189 LEXMATCH -MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363429 LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363447 LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17559 LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018190 LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018190 LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363447 LEXMATCH -MONDO:0018192 paratesticular adenocarcinoma skos:closeMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363478 LEXMATCH -MONDO:0018192 paratesticular adenocarcinoma skos:closeMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21550 LEXMATCH -MONDO:0018192 paratesticular adenocarcinoma skos:closeMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018192 LEXMATCH -MONDO:0018192 paratesticular adenocarcinoma skos:closeMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018192 LEXMATCH -MONDO:0018192 paratesticular adenocarcinoma skos:closeMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363478 LEXMATCH -MONDO:0018193 testicular teratoma skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363483 LEXMATCH -MONDO:0018193 testicular teratoma skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17560 LEXMATCH -MONDO:0018193 testicular teratoma skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018193 LEXMATCH -MONDO:0018193 testicular teratoma skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018193 LEXMATCH -MONDO:0018193 testicular teratoma skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363483 LEXMATCH -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363534 LEXMATCH -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17564 LEXMATCH -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018197 LEXMATCH -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018197 LEXMATCH -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363534 LEXMATCH -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363549 LEXMATCH -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21552 LEXMATCH -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018198 LEXMATCH -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018198 LEXMATCH -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363549 LEXMATCH -MONDO:0018199 new-onset refractory status epilepticus skos:closeMatch Orphanet:363558 New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363558 LEXMATCH -MONDO:0018199 new-onset refractory status epilepticus skos:closeMatch Orphanet:363558 New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12244 LEXMATCH -MONDO:0018199 new-onset refractory status epilepticus skos:closeMatch Orphanet:363558 New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018199 LEXMATCH -MONDO:0018199 new-onset refractory status epilepticus skos:closeMatch Orphanet:363558 New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018199 LEXMATCH -MONDO:0018199 new-onset refractory status epilepticus skos:closeMatch Orphanet:363558 New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363558 LEXMATCH -MONDO:0018201 extragonadal germ cell tumor skos:closeMatch Orphanet:363579 Extragonadal germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9325 LEXMATCH -MONDO:0018201 extragonadal germ cell tumor skos:closeMatch Orphanet:363579 Extragonadal germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018201 LEXMATCH -MONDO:0018201 extragonadal germ cell tumor skos:closeMatch Orphanet:363579 Extragonadal germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018201 LEXMATCH -MONDO:0018202 gonadal germ cell tumor skos:closeMatch Orphanet:363582 Gonadal germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21554 LEXMATCH -MONDO:0018202 gonadal germ cell tumor skos:closeMatch Orphanet:363582 Gonadal germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018202 LEXMATCH -MONDO:0018202 gonadal germ cell tumor skos:closeMatch Orphanet:363582 Gonadal germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018202 LEXMATCH -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:closeMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363618 LEXMATCH -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:closeMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21555 LEXMATCH -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:closeMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018203 LEXMATCH -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:closeMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018203 LEXMATCH -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:closeMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363618 LEXMATCH -MONDO:0018204 20q11.2 microduplication syndrome skos:closeMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363659 LEXMATCH -MONDO:0018204 20q11.2 microduplication syndrome skos:closeMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21556 LEXMATCH -MONDO:0018204 20q11.2 microduplication syndrome skos:closeMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018204 LEXMATCH -MONDO:0018204 20q11.2 microduplication syndrome skos:closeMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018204 LEXMATCH -MONDO:0018204 20q11.2 microduplication syndrome skos:closeMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363659 LEXMATCH -MONDO:0018205 distal monosomy 1q skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36367 LEXMATCH -MONDO:0018205 distal monosomy 1q skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16640 LEXMATCH -MONDO:0018205 distal monosomy 1q skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018205 LEXMATCH -MONDO:0018205 distal monosomy 1q skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018205 LEXMATCH -MONDO:0018205 distal monosomy 1q skos:closeMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36367 LEXMATCH -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363677 LEXMATCH -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17568 LEXMATCH -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018206 LEXMATCH -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018206 LEXMATCH -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363677 LEXMATCH -MONDO:0018207 2p13.2 microdeletion syndrome skos:closeMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363680 LEXMATCH -MONDO:0018207 2p13.2 microdeletion syndrome skos:closeMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21557 LEXMATCH -MONDO:0018207 2p13.2 microdeletion syndrome skos:closeMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018207 LEXMATCH -MONDO:0018207 2p13.2 microdeletion syndrome skos:closeMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018207 LEXMATCH -MONDO:0018207 2p13.2 microdeletion syndrome skos:closeMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363680 LEXMATCH -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363700 LEXMATCH -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17570 LEXMATCH -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018208 LEXMATCH -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018208 LEXMATCH -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363700 LEXMATCH -MONDO:0018209 Alexander disease type I skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363717 LEXMATCH -MONDO:0018209 Alexander disease type I skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17572 LEXMATCH -MONDO:0018209 Alexander disease type I skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018209 LEXMATCH -MONDO:0018209 Alexander disease type I skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018209 LEXMATCH -MONDO:0018209 Alexander disease type I skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363717 LEXMATCH -MONDO:0018210 Alexander disease type II skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363722 LEXMATCH -MONDO:0018210 Alexander disease type II skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17573 LEXMATCH -MONDO:0018210 Alexander disease type II skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018210 LEXMATCH -MONDO:0018210 Alexander disease type II skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018210 LEXMATCH -MONDO:0018210 Alexander disease type II skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363722 LEXMATCH -MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270706 LEXMATCH -MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363746 LEXMATCH -MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21558 LEXMATCH -MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018211 LEXMATCH -MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018211 LEXMATCH -MONDO:0018211 Balint syndrome skos:closeMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363746 LEXMATCH -MONDO:0018212 familial cervical artery dissection skos:closeMatch Orphanet:36382 Familial cervical artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36382 LEXMATCH -MONDO:0018212 familial cervical artery dissection skos:closeMatch Orphanet:36382 Familial cervical artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18823 LEXMATCH -MONDO:0018212 familial cervical artery dissection skos:closeMatch Orphanet:36382 Familial cervical artery dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018212 LEXMATCH -MONDO:0018212 familial cervical artery dissection skos:closeMatch Orphanet:36382 Familial cervical artery dissection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018212 LEXMATCH -MONDO:0018212 familial cervical artery dissection skos:closeMatch Orphanet:36382 Familial cervical artery dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36382 LEXMATCH -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36386 LEXMATCH -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6635 LEXMATCH -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018213 LEXMATCH -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018213 LEXMATCH -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36386 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502809 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36387 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18641 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized epilepsy with febrile seizures-plus LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018214 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018214 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36387 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072106 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36388 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7326 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018215 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018215 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36388 LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label paraneoplastic cerebellar degeneration LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363958 LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17576 LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018216 LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018216 LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363958 LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 LEXMATCH -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:closeMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363965 LEXMATCH -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:closeMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21559 LEXMATCH -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:closeMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018217 LEXMATCH -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:closeMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018217 LEXMATCH -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:closeMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363965 LEXMATCH -MONDO:0018218 autosomal recessive cerebral atrophy skos:closeMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:363969 LEXMATCH -MONDO:0018218 autosomal recessive cerebral atrophy skos:closeMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21560 LEXMATCH -MONDO:0018218 autosomal recessive cerebral atrophy skos:closeMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018218 LEXMATCH -MONDO:0018218 autosomal recessive cerebral atrophy skos:closeMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018218 LEXMATCH -MONDO:0018218 autosomal recessive cerebral atrophy skos:closeMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:363969 LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455990 LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364013 LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21561 LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018221 LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018221 LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364013 LEXMATCH -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:closeMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364033 LEXMATCH -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:closeMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21562 LEXMATCH -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:closeMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018223 LEXMATCH -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:closeMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018223 LEXMATCH -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:closeMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364033 LEXMATCH -MONDO:0018224 hydroa vacciniforme-like lymphoma skos:closeMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364039 LEXMATCH -MONDO:0018224 hydroa vacciniforme-like lymphoma skos:closeMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21563 LEXMATCH -MONDO:0018224 hydroa vacciniforme-like lymphoma skos:closeMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018224 LEXMATCH -MONDO:0018224 hydroa vacciniforme-like lymphoma skos:closeMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018224 LEXMATCH -MONDO:0018224 hydroa vacciniforme-like lymphoma skos:closeMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364039 LEXMATCH -MONDO:0018225 ALK-positive large B-cell lymphoma skos:closeMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364043 LEXMATCH -MONDO:0018225 ALK-positive large B-cell lymphoma skos:closeMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21564 LEXMATCH -MONDO:0018225 ALK-positive large B-cell lymphoma skos:closeMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018225 LEXMATCH -MONDO:0018225 ALK-positive large B-cell lymphoma skos:closeMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018225 LEXMATCH -MONDO:0018225 ALK-positive large B-cell lymphoma skos:closeMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364043 LEXMATCH -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364063 LEXMATCH -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17582 LEXMATCH -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018226 LEXMATCH -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018226 LEXMATCH -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364063 LEXMATCH -MONDO:0018227 hypocomplementemic urticarial vasculitis skos:closeMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36412 LEXMATCH -MONDO:0018227 hypocomplementemic urticarial vasculitis skos:closeMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6725 LEXMATCH -MONDO:0018227 hypocomplementemic urticarial vasculitis skos:closeMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018227 LEXMATCH -MONDO:0018227 hypocomplementemic urticarial vasculitis skos:closeMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018227 LEXMATCH -MONDO:0018227 hypocomplementemic urticarial vasculitis skos:closeMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36412 LEXMATCH -MONDO:0018228 bipartite talus skos:closeMatch Orphanet:364198 Bipartite talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364198 LEXMATCH -MONDO:0018228 bipartite talus skos:closeMatch Orphanet:364198 Bipartite talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21566 LEXMATCH -MONDO:0018228 bipartite talus skos:closeMatch Orphanet:364198 Bipartite talus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018228 LEXMATCH -MONDO:0018228 bipartite talus skos:closeMatch Orphanet:364198 Bipartite talus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018228 LEXMATCH -MONDO:0018228 bipartite talus skos:closeMatch Orphanet:364198 Bipartite talus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364198 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042033 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038325 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36426 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7700 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018229 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018229 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608579 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36426 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608579 LEXMATCH -MONDO:0018230 skeletal dysplasia skos:closeMatch Orphanet:364526 Primary bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21567 LEXMATCH -MONDO:0018230 skeletal dysplasia skos:closeMatch Orphanet:364526 Primary bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018230 LEXMATCH -MONDO:0018230 skeletal dysplasia skos:closeMatch Orphanet:364526 Primary bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018230 LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748918 LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364541 LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21570 LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018233 LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018233 LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364541 LEXMATCH -MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013393 LEXMATCH -MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364559 LEXMATCH -MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21571 LEXMATCH -MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018234 LEXMATCH -MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018234 LEXMATCH -MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364559 LEXMATCH -MONDO:0018237 acrofacial dysostosis skos:closeMatch Orphanet:364574 Acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:364574 LEXMATCH -MONDO:0018237 acrofacial dysostosis skos:closeMatch Orphanet:364574 Acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21574 LEXMATCH -MONDO:0018237 acrofacial dysostosis skos:closeMatch Orphanet:364574 Acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018237 LEXMATCH -MONDO:0018237 acrofacial dysostosis skos:closeMatch Orphanet:364574 Acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018237 LEXMATCH -MONDO:0018237 acrofacial dysostosis skos:closeMatch Orphanet:364574 Acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:364574 LEXMATCH -MONDO:0018239 aggrecan-related bone disorder skos:closeMatch Orphanet:364817 Aggrecan-related bone disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21576 LEXMATCH -MONDO:0018239 aggrecan-related bone disorder skos:closeMatch Orphanet:364817 Aggrecan-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018239 LEXMATCH -MONDO:0018239 aggrecan-related bone disorder skos:closeMatch Orphanet:364817 Aggrecan-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018239 LEXMATCH -MONDO:0018240 TRPV4-related bone disorder skos:closeMatch Orphanet:364820 TRPV4-related bone disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21577 LEXMATCH -MONDO:0018240 TRPV4-related bone disorder skos:closeMatch Orphanet:364820 TRPV4-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018240 LEXMATCH -MONDO:0018240 TRPV4-related bone disorder skos:closeMatch Orphanet:364820 TRPV4-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018240 LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271865 LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:36913 LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18824 LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018242 LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018242 LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:36913 LEXMATCH -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369847 LEXMATCH -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21579 LEXMATCH -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018243 LEXMATCH -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018243 LEXMATCH -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369847 LEXMATCH -MONDO:0018244 obesity due to SIM1 deficiency skos:closeMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369873 LEXMATCH -MONDO:0018244 obesity due to SIM1 deficiency skos:closeMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21580 LEXMATCH -MONDO:0018244 obesity due to SIM1 deficiency skos:closeMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018244 LEXMATCH -MONDO:0018244 obesity due to SIM1 deficiency skos:closeMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018244 LEXMATCH -MONDO:0018244 obesity due to SIM1 deficiency skos:closeMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369873 LEXMATCH -MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:closeMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369881 LEXMATCH -MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:closeMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21581 LEXMATCH -MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:closeMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018245 LEXMATCH -MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:closeMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018245 LEXMATCH -MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:closeMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369881 LEXMATCH -MONDO:0018247 CADDS skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369942 LEXMATCH -MONDO:0018247 CADDS skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12472 LEXMATCH -MONDO:0018247 CADDS skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018247 LEXMATCH -MONDO:0018247 CADDS skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018247 LEXMATCH -MONDO:0018247 CADDS skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369942 LEXMATCH -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:closeMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369950 LEXMATCH -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:closeMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21583 LEXMATCH -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:closeMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018248 LEXMATCH -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:closeMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018248 LEXMATCH -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:closeMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369950 LEXMATCH -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:closeMatch Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369979 LEXMATCH -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:closeMatch Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21584 LEXMATCH -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:closeMatch Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018249 LEXMATCH -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:closeMatch Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018249 LEXMATCH -MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome skos:closeMatch Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369979 LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:369999 LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17595 LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018250 LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018250 LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:369999 LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370002 LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17596 LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018252 LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018252 LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370002 LEXMATCH -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:closeMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370010 LEXMATCH -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:closeMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21585 LEXMATCH -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:closeMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018253 LEXMATCH -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:closeMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018253 LEXMATCH -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:closeMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370010 LEXMATCH -MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:closeMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370015 LEXMATCH -MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:closeMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21586 LEXMATCH -MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:closeMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018254 LEXMATCH -MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:closeMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018254 LEXMATCH -MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type skos:closeMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370015 LEXMATCH -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:closeMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370026 LEXMATCH -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:closeMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21588 LEXMATCH -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:closeMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018256 LEXMATCH -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:closeMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018256 LEXMATCH -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:closeMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370026 LEXMATCH -MONDO:0018257 familial syringomyelia skos:closeMatch Orphanet:370034 Familial syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370034 LEXMATCH -MONDO:0018257 familial syringomyelia skos:closeMatch Orphanet:370034 Familial syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21589 LEXMATCH -MONDO:0018257 familial syringomyelia skos:closeMatch Orphanet:370034 Familial syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018257 LEXMATCH -MONDO:0018257 familial syringomyelia skos:closeMatch Orphanet:370034 Familial syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018257 LEXMATCH -MONDO:0018257 familial syringomyelia skos:closeMatch Orphanet:370034 Familial syringomyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370034 LEXMATCH -MONDO:0018258 Angora hair nevus skos:closeMatch Orphanet:370039 Angora hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370039 LEXMATCH -MONDO:0018258 Angora hair nevus skos:closeMatch Orphanet:370039 Angora hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21590 LEXMATCH -MONDO:0018258 Angora hair nevus skos:closeMatch Orphanet:370039 Angora hair nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018258 LEXMATCH -MONDO:0018258 Angora hair nevus skos:closeMatch Orphanet:370039 Angora hair nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018258 LEXMATCH -MONDO:0018258 Angora hair nevus skos:closeMatch Orphanet:370039 Angora hair nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370039 LEXMATCH -MONDO:0018259 didymosis aplasticosebacea skos:closeMatch Orphanet:370046 Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370046 LEXMATCH -MONDO:0018259 didymosis aplasticosebacea skos:closeMatch Orphanet:370046 Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21591 LEXMATCH -MONDO:0018259 didymosis aplasticosebacea skos:closeMatch Orphanet:370046 Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018259 LEXMATCH -MONDO:0018259 didymosis aplasticosebacea skos:closeMatch Orphanet:370046 Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018259 LEXMATCH -MONDO:0018259 didymosis aplasticosebacea skos:closeMatch Orphanet:370046 Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370046 LEXMATCH -MONDO:0018260 scalp syndrome skos:closeMatch Orphanet:370052 SCALP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370052 LEXMATCH -MONDO:0018260 scalp syndrome skos:closeMatch Orphanet:370052 SCALP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21592 LEXMATCH -MONDO:0018260 scalp syndrome skos:closeMatch Orphanet:370052 SCALP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018260 LEXMATCH -MONDO:0018260 scalp syndrome skos:closeMatch Orphanet:370052 SCALP syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018260 LEXMATCH -MONDO:0018260 scalp syndrome skos:closeMatch Orphanet:370052 SCALP syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370052 LEXMATCH -MONDO:0018261 Nevada syndrome skos:closeMatch Orphanet:370059 NEVADA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370059 LEXMATCH -MONDO:0018261 Nevada syndrome skos:closeMatch Orphanet:370059 NEVADA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21593 LEXMATCH -MONDO:0018261 Nevada syndrome skos:closeMatch Orphanet:370059 NEVADA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018261 LEXMATCH -MONDO:0018261 Nevada syndrome skos:closeMatch Orphanet:370059 NEVADA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018261 LEXMATCH -MONDO:0018261 Nevada syndrome skos:closeMatch Orphanet:370059 NEVADA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370059 LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739111 LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370068 LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21594 LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018262 LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018262 LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:closeMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370068 LEXMATCH -MONDO:0018263 fetal carbamazepine syndrome skos:closeMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370076 LEXMATCH -MONDO:0018263 fetal carbamazepine syndrome skos:closeMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21595 LEXMATCH -MONDO:0018263 fetal carbamazepine syndrome skos:closeMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018263 LEXMATCH -MONDO:0018263 fetal carbamazepine syndrome skos:closeMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018263 LEXMATCH -MONDO:0018263 fetal carbamazepine syndrome skos:closeMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370076 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113750 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370097 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17599 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018264 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018264 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113750 LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:closeMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370097 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370109 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21597 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018266 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018266 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370109 LEXMATCH -MONDO:0018268 Medich giant platelet syndrome skos:closeMatch Orphanet:370127 Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370127 LEXMATCH -MONDO:0018268 Medich giant platelet syndrome skos:closeMatch Orphanet:370127 Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21598 LEXMATCH -MONDO:0018268 Medich giant platelet syndrome skos:closeMatch Orphanet:370127 Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018268 LEXMATCH -MONDO:0018268 Medich giant platelet syndrome skos:closeMatch Orphanet:370127 Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018268 LEXMATCH -MONDO:0018268 Medich giant platelet syndrome skos:closeMatch Orphanet:370127 Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370127 LEXMATCH -MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931293 LEXMATCH -MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370131 LEXMATCH -MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9282 LEXMATCH -MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018269 LEXMATCH -MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018269 LEXMATCH -MONDO:0018269 white platelet syndrome skos:closeMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370131 LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279980 LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370334 LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17600 LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018270 LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018270 LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370334 LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370348 LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17601 LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018271 LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018271 LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370348 LEXMATCH -MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:closeMatch Orphanet:370930 XYLT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370930 LEXMATCH -MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:closeMatch Orphanet:370930 XYLT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21599 LEXMATCH -MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:closeMatch Orphanet:370930 XYLT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018273 LEXMATCH -MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:closeMatch Orphanet:370930 XYLT1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018273 LEXMATCH -MONDO:0018273 XYLT1-congenital disorder of glycosylation skos:closeMatch Orphanet:370930 XYLT1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370930 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609056 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370933 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12059 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609056 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018274 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018274 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609056 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370933 LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609056 LEXMATCH -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12584 LEXMATCH -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy due to dystroglycanopathy LEXMATCH -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018276 LEXMATCH -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018276 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370968 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17606 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018278 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018278 LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370968 LEXMATCH -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370997 LEXMATCH -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17608 LEXMATCH -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018280 LEXMATCH -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018280 LEXMATCH -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370997 LEXMATCH -MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:closeMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371007 LEXMATCH -MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:closeMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21600 LEXMATCH -MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:closeMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018281 LEXMATCH -MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:closeMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018281 LEXMATCH -MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:closeMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:371007 LEXMATCH -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan skos:closeMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371024 LEXMATCH -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan skos:closeMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21601 LEXMATCH -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan skos:closeMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018282 LEXMATCH -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan skos:closeMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018282 LEXMATCH -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan skos:closeMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:371024 LEXMATCH -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:371428 LEXMATCH -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17610 LEXMATCH -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018298 LEXMATCH -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018298 LEXMATCH -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:371428 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011796 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282488 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37202 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18825 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018301 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018301 LEXMATCH -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37202 LEXMATCH -MONDO:0018302 acquired kinky hair syndrome skos:closeMatch Orphanet:37559 Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37559 LEXMATCH -MONDO:0018302 acquired kinky hair syndrome skos:closeMatch Orphanet:37559 Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18826 LEXMATCH -MONDO:0018302 acquired kinky hair syndrome skos:closeMatch Orphanet:37559 Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018302 LEXMATCH -MONDO:0018302 acquired kinky hair syndrome skos:closeMatch Orphanet:37559 Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018302 LEXMATCH -MONDO:0018302 acquired kinky hair syndrome skos:closeMatch Orphanet:37559 Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37559 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062908 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524988 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:37748 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12390 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018304 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018304 LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:37748 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008906 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018203 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:379 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6100 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018305 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018305 LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:379 LEXMATCH -MONDO:0018306 Griscelli syndrome skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:381 LEXMATCH -MONDO:0018306 Griscelli syndrome skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10913 LEXMATCH -MONDO:0018306 Griscelli syndrome skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018306 LEXMATCH -MONDO:0018306 Griscelli syndrome skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018306 LEXMATCH -MONDO:0018306 Griscelli syndrome skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:381 LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:385 LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11899 LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018307 LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018307 LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:385 LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334091 LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:386 LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2651 LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic cystic hamartoma LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018308 LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018308 LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:386 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010539 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019569 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:388 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6660 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018309 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018309 LEXMATCH -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:388 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069698 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604856 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019621 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:389 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6858 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018310 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018310 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604856 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:389 LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch LEXMATCH -MONDO:0018311 acromelanosis skos:closeMatch Orphanet:39 Acromelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:39 LEXMATCH -MONDO:0018311 acromelanosis skos:closeMatch Orphanet:39 Acromelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4500 LEXMATCH -MONDO:0018311 acromelanosis skos:closeMatch Orphanet:39 Acromelanosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018311 LEXMATCH -MONDO:0018311 acromelanosis skos:closeMatch Orphanet:39 Acromelanosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018311 LEXMATCH -MONDO:0018311 acromelanosis skos:closeMatch Orphanet:39 Acromelanosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:39 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020141 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019655 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:390 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18692 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018312 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018312 LEXMATCH -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:390 LEXMATCH -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:closeMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391316 LEXMATCH -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:closeMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21619 LEXMATCH -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:closeMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018314 LEXMATCH -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:closeMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018314 LEXMATCH -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:closeMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391316 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300910 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391330 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17614 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018315 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018315 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391330 LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:300910 LEXMATCH -MONDO:0018316 fatal post-viral neurodegenerative disorder skos:closeMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391343 LEXMATCH -MONDO:0018316 fatal post-viral neurodegenerative disorder skos:closeMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21620 LEXMATCH -MONDO:0018316 fatal post-viral neurodegenerative disorder skos:closeMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018316 LEXMATCH -MONDO:0018316 fatal post-viral neurodegenerative disorder skos:closeMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018316 LEXMATCH -MONDO:0018316 fatal post-viral neurodegenerative disorder skos:closeMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391343 LEXMATCH -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:closeMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391366 LEXMATCH -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:closeMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21621 LEXMATCH -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:closeMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018317 LEXMATCH -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:closeMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018317 LEXMATCH -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:closeMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391366 LEXMATCH -MONDO:0018319 familial episodic pain syndrome skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391384 LEXMATCH -MONDO:0018319 familial episodic pain syndrome skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12684 LEXMATCH -MONDO:0018319 familial episodic pain syndrome skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018319 LEXMATCH -MONDO:0018319 familial episodic pain syndrome skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018319 LEXMATCH -MONDO:0018319 familial episodic pain syndrome skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391384 LEXMATCH -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391408 LEXMATCH -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17620 LEXMATCH -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018320 LEXMATCH -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018320 LEXMATCH -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391408 LEXMATCH -MONDO:0018321 atypical juvenile parkinsonism skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391411 LEXMATCH -MONDO:0018321 atypical juvenile parkinsonism skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17621 LEXMATCH -MONDO:0018321 atypical juvenile parkinsonism skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018321 LEXMATCH -MONDO:0018321 atypical juvenile parkinsonism skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018321 LEXMATCH -MONDO:0018321 atypical juvenile parkinsonism skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391411 LEXMATCH -MONDO:0018322 HSD10 disease, infantile type skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391428 LEXMATCH -MONDO:0018322 HSD10 disease, infantile type skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17622 LEXMATCH -MONDO:0018322 HSD10 disease, infantile type skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018322 LEXMATCH -MONDO:0018322 HSD10 disease, infantile type skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018322 LEXMATCH -MONDO:0018322 HSD10 disease, infantile type skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391428 LEXMATCH -MONDO:0018323 HSD10 disease, neonatal type skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391457 LEXMATCH -MONDO:0018323 HSD10 disease, neonatal type skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17623 LEXMATCH -MONDO:0018323 HSD10 disease, neonatal type skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018323 LEXMATCH -MONDO:0018323 HSD10 disease, neonatal type skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018323 LEXMATCH -MONDO:0018323 HSD10 disease, neonatal type skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391457 LEXMATCH -MONDO:0018324 adult-onset myasthenia gravis skos:closeMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391490 LEXMATCH -MONDO:0018324 adult-onset myasthenia gravis skos:closeMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21623 LEXMATCH -MONDO:0018324 adult-onset myasthenia gravis skos:closeMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018324 LEXMATCH -MONDO:0018324 adult-onset myasthenia gravis skos:closeMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018324 LEXMATCH -MONDO:0018324 adult-onset myasthenia gravis skos:closeMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391490 LEXMATCH -MONDO:0018325 juvenile myasthenia gravis skos:closeMatch Orphanet:391497 Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391497 LEXMATCH -MONDO:0018325 juvenile myasthenia gravis skos:closeMatch Orphanet:391497 Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21624 LEXMATCH -MONDO:0018325 juvenile myasthenia gravis skos:closeMatch Orphanet:391497 Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018325 LEXMATCH -MONDO:0018325 juvenile myasthenia gravis skos:closeMatch Orphanet:391497 Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018325 LEXMATCH -MONDO:0018325 juvenile myasthenia gravis skos:closeMatch Orphanet:391497 Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391497 LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0495465 LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391504 LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21625 LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018326 LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018326 LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391504 LEXMATCH -MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017653 LEXMATCH -MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391651 LEXMATCH -MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21626 LEXMATCH -MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018327 LEXMATCH -MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018327 LEXMATCH -MONDO:0018327 glomus tumor skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391651 LEXMATCH -MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391665 LEXMATCH -MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10416 LEXMATCH -MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018328 LEXMATCH -MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018328 LEXMATCH -MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391665 LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1706832 LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:391723 LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21629 LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018330 LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018330 LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:closeMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:391723 LEXMATCH -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:394529 LEXMATCH -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17626 LEXMATCH -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018332 LEXMATCH -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018332 LEXMATCH -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:394529 LEXMATCH -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:394532 LEXMATCH -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17627 LEXMATCH -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018333 LEXMATCH -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018333 LEXMATCH -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:394532 LEXMATCH -MONDO:0018334 chronic hiccup skos:closeMatch Orphanet:396 Chronic hiccup semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:396 LEXMATCH -MONDO:0018334 chronic hiccup skos:closeMatch Orphanet:396 Chronic hiccup semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6657 LEXMATCH -MONDO:0018334 chronic hiccup skos:closeMatch Orphanet:396 Chronic hiccup semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018334 LEXMATCH -MONDO:0018334 chronic hiccup skos:closeMatch Orphanet:396 Chronic hiccup semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018334 LEXMATCH -MONDO:0018334 chronic hiccup skos:closeMatch Orphanet:396 Chronic hiccup semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:396 LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714976 LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397596 LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11983 LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018338 LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018338 LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397596 LEXMATCH -MONDO:0018339 PrP systemic amyloidosis skos:closeMatch Orphanet:397606 PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397606 LEXMATCH -MONDO:0018339 PrP systemic amyloidosis skos:closeMatch Orphanet:397606 PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21632 LEXMATCH -MONDO:0018339 PrP systemic amyloidosis skos:closeMatch Orphanet:397606 PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018339 LEXMATCH -MONDO:0018339 PrP systemic amyloidosis skos:closeMatch Orphanet:397606 PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018339 LEXMATCH -MONDO:0018339 PrP systemic amyloidosis skos:closeMatch Orphanet:397606 PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397606 LEXMATCH -MONDO:0018341 3q27.3 microdeletion syndrome skos:closeMatch Orphanet:397695 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397695 LEXMATCH -MONDO:0018341 3q27.3 microdeletion syndrome skos:closeMatch Orphanet:397695 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21633 LEXMATCH -MONDO:0018341 3q27.3 microdeletion syndrome skos:closeMatch Orphanet:397695 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018341 LEXMATCH -MONDO:0018341 3q27.3 microdeletion syndrome skos:closeMatch Orphanet:397695 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018341 LEXMATCH -MONDO:0018341 3q27.3 microdeletion syndrome skos:closeMatch Orphanet:397695 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397695 LEXMATCH -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397715 LEXMATCH -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17637 LEXMATCH -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018342 LEXMATCH -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018342 LEXMATCH -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397715 LEXMATCH -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:closeMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397750 LEXMATCH -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:closeMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21634 LEXMATCH -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:closeMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018343 LEXMATCH -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:closeMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018343 LEXMATCH -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:closeMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397750 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301072 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397922 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21637 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018346 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018346 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301072 LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:closeMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397922 LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397933 LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13221 LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018347 LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018347 LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:closeMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397933 LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:closeMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397941 LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:closeMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12417 LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:closeMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018349 LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:closeMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018349 LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:closeMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397941 LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238348 LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398058 LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21639 LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018352 LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018352 LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:closeMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398058 LEXMATCH -MONDO:0018353 refractory celiac disease skos:closeMatch Orphanet:398063 Refractory celiac disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398063 LEXMATCH -MONDO:0018353 refractory celiac disease skos:closeMatch Orphanet:398063 Refractory celiac disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21640 LEXMATCH -MONDO:0018353 refractory celiac disease skos:closeMatch Orphanet:398063 Refractory celiac disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018353 LEXMATCH -MONDO:0018353 refractory celiac disease skos:closeMatch Orphanet:398063 Refractory celiac disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018353 LEXMATCH -MONDO:0018353 refractory celiac disease skos:closeMatch Orphanet:398063 Refractory celiac disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398063 LEXMATCH -MONDO:0018354 Prader-Willi-like syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21641 LEXMATCH -MONDO:0018354 Prader-Willi-like syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018354 LEXMATCH -MONDO:0018354 Prader-Willi-like syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018354 LEXMATCH -MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:closeMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398079 LEXMATCH -MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:closeMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21642 LEXMATCH -MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:closeMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018355 LEXMATCH -MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:closeMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018355 LEXMATCH -MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:closeMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398079 LEXMATCH -MONDO:0018356 secondary neonatal autoimmune disease skos:closeMatch Orphanet:398091 Secondary neonatal autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21643 LEXMATCH -MONDO:0018356 secondary neonatal autoimmune disease skos:closeMatch Orphanet:398091 Secondary neonatal autoimmune disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018356 LEXMATCH -MONDO:0018356 secondary neonatal autoimmune disease skos:closeMatch Orphanet:398091 Secondary neonatal autoimmune disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018356 LEXMATCH -MONDO:0018357 neonatal antiphospholipid syndrome skos:closeMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398097 LEXMATCH -MONDO:0018357 neonatal antiphospholipid syndrome skos:closeMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21644 LEXMATCH -MONDO:0018357 neonatal antiphospholipid syndrome skos:closeMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018357 LEXMATCH -MONDO:0018357 neonatal antiphospholipid syndrome skos:closeMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018357 LEXMATCH -MONDO:0018357 neonatal antiphospholipid syndrome skos:closeMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398097 LEXMATCH -MONDO:0018358 neonatal autoimmune hemolytic anemia skos:closeMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398109 LEXMATCH -MONDO:0018358 neonatal autoimmune hemolytic anemia skos:closeMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21645 LEXMATCH -MONDO:0018358 neonatal autoimmune hemolytic anemia skos:closeMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018358 LEXMATCH -MONDO:0018358 neonatal autoimmune hemolytic anemia skos:closeMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018358 LEXMATCH -MONDO:0018358 neonatal autoimmune hemolytic anemia skos:closeMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398109 LEXMATCH -MONDO:0018359 neonatal dermatomyositis skos:closeMatch Orphanet:398117 Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398117 LEXMATCH -MONDO:0018359 neonatal dermatomyositis skos:closeMatch Orphanet:398117 Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21646 LEXMATCH -MONDO:0018359 neonatal dermatomyositis skos:closeMatch Orphanet:398117 Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018359 LEXMATCH -MONDO:0018359 neonatal dermatomyositis skos:closeMatch Orphanet:398117 Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018359 LEXMATCH -MONDO:0018359 neonatal dermatomyositis skos:closeMatch Orphanet:398117 Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398117 LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409979 LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398124 LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21647 LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018360 LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018360 LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398124 LEXMATCH -MONDO:0018361 neonatal scleroderma skos:closeMatch Orphanet:398127 Neonatal scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398127 LEXMATCH -MONDO:0018361 neonatal scleroderma skos:closeMatch Orphanet:398127 Neonatal scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21648 LEXMATCH -MONDO:0018361 neonatal scleroderma skos:closeMatch Orphanet:398127 Neonatal scleroderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018361 LEXMATCH -MONDO:0018361 neonatal scleroderma skos:closeMatch Orphanet:398127 Neonatal scleroderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018361 LEXMATCH -MONDO:0018361 neonatal scleroderma skos:closeMatch Orphanet:398127 Neonatal scleroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398127 LEXMATCH -MONDO:0018362 persistent idiopathic facial pain skos:closeMatch Orphanet:398147 Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398147 LEXMATCH -MONDO:0018362 persistent idiopathic facial pain skos:closeMatch Orphanet:398147 Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21649 LEXMATCH -MONDO:0018362 persistent idiopathic facial pain skos:closeMatch Orphanet:398147 Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018362 LEXMATCH -MONDO:0018362 persistent idiopathic facial pain skos:closeMatch Orphanet:398147 Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018362 LEXMATCH -MONDO:0018362 persistent idiopathic facial pain skos:closeMatch Orphanet:398147 Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398147 LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398166 LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8416 LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018363 LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018363 LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398166 LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537068 LEXMATCH -MONDO:0018364 malignant epithelial tumor of ovary skos:closeMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398934 LEXMATCH -MONDO:0018364 malignant epithelial tumor of ovary skos:closeMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9362 LEXMATCH -MONDO:0018364 malignant epithelial tumor of ovary skos:closeMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018364 LEXMATCH -MONDO:0018364 malignant epithelial tumor of ovary skos:closeMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018364 LEXMATCH -MONDO:0018364 malignant epithelial tumor of ovary skos:closeMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398934 LEXMATCH -MONDO:0018365 malignant non-epithelial tumor of ovary skos:closeMatch Orphanet:398940 Malignant non-epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21650 LEXMATCH -MONDO:0018365 malignant non-epithelial tumor of ovary skos:closeMatch Orphanet:398940 Malignant non-epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018365 LEXMATCH -MONDO:0018365 malignant non-epithelial tumor of ovary skos:closeMatch Orphanet:398940 Malignant non-epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018365 LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:closeMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:398987 LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:closeMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21654 LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:closeMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018369 LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:closeMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018369 LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:closeMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:398987 LEXMATCH -MONDO:0018370 KLHL9-related early-onset distal myopathy skos:closeMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399081 LEXMATCH -MONDO:0018370 KLHL9-related early-onset distal myopathy skos:closeMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21655 LEXMATCH -MONDO:0018370 KLHL9-related early-onset distal myopathy skos:closeMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018370 LEXMATCH -MONDO:0018370 KLHL9-related early-onset distal myopathy skos:closeMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018370 LEXMATCH -MONDO:0018370 KLHL9-related early-onset distal myopathy skos:closeMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399081 LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399103 LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21656 LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal nebulin myopathy LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018371 LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018371 LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399103 LEXMATCH -MONDO:0018373 avascular necrosis skos:closeMatch Orphanet:399164 Avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399164 LEXMATCH -MONDO:0018373 avascular necrosis skos:closeMatch Orphanet:399164 Avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21658 LEXMATCH -MONDO:0018373 avascular necrosis skos:closeMatch Orphanet:399164 Avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018373 LEXMATCH -MONDO:0018373 avascular necrosis skos:closeMatch Orphanet:399164 Avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018373 LEXMATCH -MONDO:0018373 avascular necrosis skos:closeMatch Orphanet:399164 Avascular necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399164 LEXMATCH -MONDO:0018374 secondary avascular necrosis skos:closeMatch Orphanet:399169 Secondary avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21659 LEXMATCH -MONDO:0018374 secondary avascular necrosis skos:closeMatch Orphanet:399169 Secondary avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018374 LEXMATCH -MONDO:0018374 secondary avascular necrosis skos:closeMatch Orphanet:399169 Secondary avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018374 LEXMATCH -MONDO:0018375 traumatic avascular necrosis skos:closeMatch Orphanet:399175 Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399175 LEXMATCH -MONDO:0018375 traumatic avascular necrosis skos:closeMatch Orphanet:399175 Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21660 LEXMATCH -MONDO:0018375 traumatic avascular necrosis skos:closeMatch Orphanet:399175 Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018375 LEXMATCH -MONDO:0018375 traumatic avascular necrosis skos:closeMatch Orphanet:399175 Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018375 LEXMATCH -MONDO:0018375 traumatic avascular necrosis skos:closeMatch Orphanet:399175 Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399175 LEXMATCH -MONDO:0018376 secondary non-traumatic avascular necrosis skos:closeMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399180 LEXMATCH -MONDO:0018376 secondary non-traumatic avascular necrosis skos:closeMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21661 LEXMATCH -MONDO:0018376 secondary non-traumatic avascular necrosis skos:closeMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018376 LEXMATCH -MONDO:0018376 secondary non-traumatic avascular necrosis skos:closeMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018376 LEXMATCH -MONDO:0018376 secondary non-traumatic avascular necrosis skos:closeMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399180 LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2711248 LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399293 LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21663 LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018378 LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018378 LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399293 LEXMATCH -MONDO:0018379 primary avascular necrosis skos:closeMatch Orphanet:399302 Primary avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21664 LEXMATCH -MONDO:0018379 primary avascular necrosis skos:closeMatch Orphanet:399302 Primary avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018379 LEXMATCH -MONDO:0018379 primary avascular necrosis skos:closeMatch Orphanet:399302 Primary avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018379 LEXMATCH -MONDO:0018380 idiopathic avascular necrosis skos:closeMatch Orphanet:399307 Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399307 LEXMATCH -MONDO:0018380 idiopathic avascular necrosis skos:closeMatch Orphanet:399307 Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21665 LEXMATCH -MONDO:0018380 idiopathic avascular necrosis skos:closeMatch Orphanet:399307 Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018380 LEXMATCH -MONDO:0018380 idiopathic avascular necrosis skos:closeMatch Orphanet:399307 Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018380 LEXMATCH -MONDO:0018380 idiopathic avascular necrosis skos:closeMatch Orphanet:399307 Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399307 LEXMATCH -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 LEXMATCH -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399319 LEXMATCH -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12704 LEXMATCH -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018381 LEXMATCH -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018381 LEXMATCH -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399319 LEXMATCH -MONDO:0018382 epiphysiolysis of the hip skos:closeMatch Orphanet:399329 Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399329 LEXMATCH -MONDO:0018382 epiphysiolysis of the hip skos:closeMatch Orphanet:399329 Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21666 LEXMATCH -MONDO:0018382 epiphysiolysis of the hip skos:closeMatch Orphanet:399329 Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018382 LEXMATCH -MONDO:0018382 epiphysiolysis of the hip skos:closeMatch Orphanet:399329 Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018382 LEXMATCH -MONDO:0018382 epiphysiolysis of the hip skos:closeMatch Orphanet:399329 Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399329 LEXMATCH -MONDO:0018383 osteonecrosis of genetic origin skos:closeMatch Orphanet:399380 Osteonecrosis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21667 LEXMATCH -MONDO:0018383 osteonecrosis of genetic origin skos:closeMatch Orphanet:399380 Osteonecrosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018383 LEXMATCH -MONDO:0018383 osteonecrosis of genetic origin skos:closeMatch Orphanet:399380 Osteonecrosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018383 LEXMATCH -MONDO:0018384 avascular necrosis of genetic origin skos:closeMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21668 LEXMATCH -MONDO:0018384 avascular necrosis of genetic origin skos:closeMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018384 LEXMATCH -MONDO:0018384 avascular necrosis of genetic origin skos:closeMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018384 LEXMATCH -MONDO:0018385 osteochondrosis of genetic origin skos:closeMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21669 LEXMATCH -MONDO:0018385 osteochondrosis of genetic origin skos:closeMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018385 LEXMATCH -MONDO:0018385 osteochondrosis of genetic origin skos:closeMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018385 LEXMATCH -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:399808 LEXMATCH -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17654 LEXMATCH -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018394 LEXMATCH -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018394 LEXMATCH -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:399808 LEXMATCH -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014096 LEXMATCH -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:400 LEXMATCH -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2764 LEXMATCH -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018408 LEXMATCH -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018408 LEXMATCH -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:400 LEXMATCH -MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:closeMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401795 LEXMATCH -MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:closeMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21695 LEXMATCH -MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:closeMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018416 LEXMATCH -MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:closeMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018416 LEXMATCH -MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:closeMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401795 LEXMATCH -MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:closeMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401800 LEXMATCH -MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:closeMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21696 LEXMATCH -MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:closeMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018417 LEXMATCH -MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:closeMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018417 LEXMATCH -MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:closeMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401800 LEXMATCH -MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:closeMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401815 LEXMATCH -MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:closeMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21697 LEXMATCH -MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:closeMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018418 LEXMATCH -MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:closeMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018418 LEXMATCH -MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:closeMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401815 LEXMATCH -MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:closeMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401820 LEXMATCH -MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:closeMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21698 LEXMATCH -MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:closeMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018419 LEXMATCH -MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:closeMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018419 LEXMATCH -MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:closeMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401820 LEXMATCH -MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:closeMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401830 LEXMATCH -MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:closeMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21699 LEXMATCH -MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:closeMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018421 LEXMATCH -MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:closeMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018421 LEXMATCH -MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:closeMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401830 LEXMATCH -MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:closeMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401835 LEXMATCH -MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:closeMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21700 LEXMATCH -MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:closeMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018422 LEXMATCH -MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:closeMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018422 LEXMATCH -MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:closeMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401835 LEXMATCH -MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:closeMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401840 LEXMATCH -MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:closeMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21701 LEXMATCH -MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:closeMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018423 LEXMATCH -MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:closeMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018423 LEXMATCH -MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:closeMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401840 LEXMATCH -MONDO:0018424 inherited lipoic acid biosynthesis defect skos:closeMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12679 LEXMATCH -MONDO:0018424 inherited lipoic acid biosynthesis defect skos:closeMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoic acid biosynthesis defect LEXMATCH -MONDO:0018424 inherited lipoic acid biosynthesis defect skos:closeMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018424 LEXMATCH -MONDO:0018424 inherited lipoic acid biosynthesis defect skos:closeMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018424 LEXMATCH -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:closeMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401901 LEXMATCH -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:closeMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21702 LEXMATCH -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:closeMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018425 LEXMATCH -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:closeMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018425 LEXMATCH -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:closeMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401901 LEXMATCH -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401911 LEXMATCH -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21703 LEXMATCH -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018426 LEXMATCH -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018426 LEXMATCH -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401911 LEXMATCH -MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:closeMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401923 LEXMATCH -MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:closeMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21705 LEXMATCH -MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:closeMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018428 LEXMATCH -MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:closeMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018428 LEXMATCH -MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:closeMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401923 LEXMATCH -MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:closeMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401935 LEXMATCH -MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:closeMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21706 LEXMATCH -MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:closeMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018429 LEXMATCH -MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:closeMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018429 LEXMATCH -MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:closeMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401935 LEXMATCH -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:closeMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:401959 LEXMATCH -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:closeMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21707 LEXMATCH -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:closeMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018430 LEXMATCH -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:closeMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018430 LEXMATCH -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:closeMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:401959 LEXMATCH -MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum skos:closeMatch Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21708 LEXMATCH -MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum skos:closeMatch Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018431 LEXMATCH -MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum skos:closeMatch Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018431 LEXMATCH -MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402007 LEXMATCH -MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21709 LEXMATCH -MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018432 LEXMATCH -MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018432 LEXMATCH -MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402007 LEXMATCH -MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis LEXMATCH -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:closeMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402014 LEXMATCH -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:closeMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21710 LEXMATCH -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:closeMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018433 LEXMATCH -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:closeMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018433 LEXMATCH -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:closeMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402014 LEXMATCH -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:closeMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402017 LEXMATCH -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:closeMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21711 LEXMATCH -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:closeMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018434 LEXMATCH -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:closeMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018434 LEXMATCH -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:closeMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402017 LEXMATCH -MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:closeMatch Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402020 LEXMATCH -MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:closeMatch Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12759 LEXMATCH -MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:closeMatch Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018435 LEXMATCH -MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:closeMatch Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018435 LEXMATCH -MONDO:0018435 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) skos:closeMatch Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402020 LEXMATCH -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:closeMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402023 LEXMATCH -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:closeMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21712 LEXMATCH -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:closeMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018436 LEXMATCH -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:closeMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018436 LEXMATCH -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:closeMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402023 LEXMATCH -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:closeMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402026 LEXMATCH -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:closeMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21713 LEXMATCH -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:closeMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018437 LEXMATCH -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:closeMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018437 LEXMATCH -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:closeMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402026 LEXMATCH -MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch Orphanet:402029 Primary eosinophilic gastrointestinal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21714 LEXMATCH -MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch Orphanet:402029 Primary eosinophilic gastrointestinal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018438 LEXMATCH -MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch Orphanet:402029 Primary eosinophilic gastrointestinal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018438 LEXMATCH -MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267448 LEXMATCH -MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402035 LEXMATCH -MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21715 LEXMATCH -MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018439 LEXMATCH -MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018439 LEXMATCH -MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402035 LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864498 LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:402041 LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4666 LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018440 LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018440 LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:402041 LEXMATCH -MONDO:0018442 acitretin/etretinate embryopathy skos:closeMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:40366 LEXMATCH -MONDO:0018442 acitretin/etretinate embryopathy skos:closeMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18827 LEXMATCH -MONDO:0018442 acitretin/etretinate embryopathy skos:closeMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018442 LEXMATCH -MONDO:0018442 acitretin/etretinate embryopathy skos:closeMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018442 LEXMATCH -MONDO:0018442 acitretin/etretinate embryopathy skos:closeMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:40366 LEXMATCH -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:closeMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404451 LEXMATCH -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:closeMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21717 LEXMATCH -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:closeMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018443 LEXMATCH -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:closeMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018443 LEXMATCH -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:closeMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404451 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618272 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404476 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17676 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018445 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018445 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618272 LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404476 LEXMATCH -MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome skos:closeMatch Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21719 LEXMATCH -MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome skos:closeMatch Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018446 LEXMATCH -MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome skos:closeMatch Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018446 LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221290 LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404507 LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21720 LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018447 LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018447 LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404507 LEXMATCH -MONDO:0018448 clear cell papillary renal cell carcinoma skos:closeMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404511 LEXMATCH -MONDO:0018448 clear cell papillary renal cell carcinoma skos:closeMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21721 LEXMATCH -MONDO:0018448 clear cell papillary renal cell carcinoma skos:closeMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018448 LEXMATCH -MONDO:0018448 clear cell papillary renal cell carcinoma skos:closeMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018448 LEXMATCH -MONDO:0018448 clear cell papillary renal cell carcinoma skos:closeMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404511 LEXMATCH -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:closeMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404514 LEXMATCH -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:closeMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21722 LEXMATCH -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:closeMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018449 LEXMATCH -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:closeMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018449 LEXMATCH -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:closeMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404514 LEXMATCH -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:closeMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404521 LEXMATCH -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:closeMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21723 LEXMATCH -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:closeMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018450 LEXMATCH -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:closeMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018450 LEXMATCH -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:closeMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404521 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404560 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9281 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018453 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018453 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404560 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 LEXMATCH -MONDO:0018454 dysostosis of genetic origin skos:closeMatch Orphanet:404568 Dysostosis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21725 LEXMATCH -MONDO:0018454 dysostosis of genetic origin skos:closeMatch Orphanet:404568 Dysostosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018454 LEXMATCH -MONDO:0018454 dysostosis of genetic origin skos:closeMatch Orphanet:404568 Dysostosis of genetic origin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018454 LEXMATCH -MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404580 LEXMATCH -MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21729 LEXMATCH -MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018456 LEXMATCH -MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018456 LEXMATCH -MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404580 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:405 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10828 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018458 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018458 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:405 LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 LEXMATCH -MONDO:0018459 isolated glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:408 LEXMATCH -MONDO:0018459 isolated glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2807 LEXMATCH -MONDO:0018459 isolated glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018459 LEXMATCH -MONDO:0018459 isolated glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018459 LEXMATCH -MONDO:0018459 isolated glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:408 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057429 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271073 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:40923 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6309 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018460 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018460 LEXMATCH -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:40923 LEXMATCH -MONDO:0018461 Angelman syndrome due to a point mutation skos:closeMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411511 LEXMATCH -MONDO:0018461 Angelman syndrome due to a point mutation skos:closeMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21732 LEXMATCH -MONDO:0018461 Angelman syndrome due to a point mutation skos:closeMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018461 LEXMATCH -MONDO:0018461 Angelman syndrome due to a point mutation skos:closeMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018461 LEXMATCH -MONDO:0018461 Angelman syndrome due to a point mutation skos:closeMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411511 LEXMATCH -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:closeMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411515 LEXMATCH -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:closeMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21733 LEXMATCH -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:closeMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018462 LEXMATCH -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:closeMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018462 LEXMATCH -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:closeMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411515 LEXMATCH -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411536 LEXMATCH -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17681 LEXMATCH -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018463 LEXMATCH -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018463 LEXMATCH -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411536 LEXMATCH -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411543 LEXMATCH -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17682 LEXMATCH -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018464 LEXMATCH -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018464 LEXMATCH -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411543 LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854359 LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411593 LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10808 LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018465 LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018465 LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411593 LEXMATCH -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411629 LEXMATCH -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9755 LEXMATCH -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018467 LEXMATCH -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018467 LEXMATCH -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411629 LEXMATCH -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:closeMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411696 LEXMATCH -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:closeMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21735 LEXMATCH -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:closeMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018468 LEXMATCH -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:closeMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018468 LEXMATCH -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:closeMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411696 LEXMATCH -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:closeMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411703 LEXMATCH -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:closeMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12829 LEXMATCH -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:closeMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018469 LEXMATCH -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:closeMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018469 LEXMATCH -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:closeMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411703 LEXMATCH -MONDO:0018470 renal agenesis skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411709 LEXMATCH -MONDO:0018470 renal agenesis skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9228 LEXMATCH -MONDO:0018470 renal agenesis skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018470 LEXMATCH -MONDO:0018470 renal agenesis skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018470 LEXMATCH -MONDO:0018470 renal agenesis skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411709 LEXMATCH -MONDO:0018471 generalized eruptive keratoacanthoma skos:closeMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411777 LEXMATCH -MONDO:0018471 generalized eruptive keratoacanthoma skos:closeMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21736 LEXMATCH -MONDO:0018471 generalized eruptive keratoacanthoma skos:closeMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018471 LEXMATCH -MONDO:0018471 generalized eruptive keratoacanthoma skos:closeMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018471 LEXMATCH -MONDO:0018471 generalized eruptive keratoacanthoma skos:closeMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411777 LEXMATCH -MONDO:0018472 familial isolated trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:411788 LEXMATCH -MONDO:0018472 familial isolated trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13167 LEXMATCH -MONDO:0018472 familial isolated trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018472 LEXMATCH -MONDO:0018472 familial isolated trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018472 LEXMATCH -MONDO:0018472 familial isolated trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:411788 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060751 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617347 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020479 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6703 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysbetalipoproteinemia LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018473 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018473 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617347 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412 LEXMATCH -MONDO:0018474 13q12.3 microdeletion syndrome skos:closeMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412035 LEXMATCH -MONDO:0018474 13q12.3 microdeletion syndrome skos:closeMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21737 LEXMATCH -MONDO:0018474 13q12.3 microdeletion syndrome skos:closeMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018474 LEXMATCH -MONDO:0018474 13q12.3 microdeletion syndrome skos:closeMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018474 LEXMATCH -MONDO:0018474 13q12.3 microdeletion syndrome skos:closeMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412035 LEXMATCH -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:closeMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412066 LEXMATCH -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:closeMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21738 LEXMATCH -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:closeMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018475 LEXMATCH -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:closeMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018475 LEXMATCH -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:closeMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412066 LEXMATCH -MONDO:0018476 dystonia-aphonia syndrome skos:closeMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:412217 LEXMATCH -MONDO:0018476 dystonia-aphonia syndrome skos:closeMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21739 LEXMATCH -MONDO:0018476 dystonia-aphonia syndrome skos:closeMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018476 LEXMATCH -MONDO:0018476 dystonia-aphonia syndrome skos:closeMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018476 LEXMATCH -MONDO:0018476 dystonia-aphonia syndrome skos:closeMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:412217 LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:415286 Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:415286 LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:415286 Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6830 LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:415286 Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018477 LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:415286 Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018477 LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:415286 Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:415286 LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kernicterus spectrum disorder LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001627 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:418 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1467 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018479 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018479 LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:418 LEXMATCH -MONDO:0018480 carcinoma of esophagus, salivary gland type skos:closeMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:418945 LEXMATCH -MONDO:0018480 carcinoma of esophagus, salivary gland type skos:closeMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21741 LEXMATCH -MONDO:0018480 carcinoma of esophagus, salivary gland type skos:closeMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018480 LEXMATCH -MONDO:0018480 carcinoma of esophagus, salivary gland type skos:closeMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018480 LEXMATCH -MONDO:0018480 carcinoma of esophagus, salivary gland type skos:closeMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:418945 LEXMATCH -MONDO:0018481 undifferentiated carcinoma of esophagus skos:closeMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:418951 LEXMATCH -MONDO:0018481 undifferentiated carcinoma of esophagus skos:closeMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21742 LEXMATCH -MONDO:0018481 undifferentiated carcinoma of esophagus skos:closeMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018481 LEXMATCH -MONDO:0018481 undifferentiated carcinoma of esophagus skos:closeMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018481 LEXMATCH -MONDO:0018481 undifferentiated carcinoma of esophagus skos:closeMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:418951 LEXMATCH -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420259 LEXMATCH -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21744 LEXMATCH -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018483 LEXMATCH -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018483 LEXMATCH -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420259 LEXMATCH -MONDO:0018484 semicircular canal dehiscence syndrome skos:closeMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420402 LEXMATCH -MONDO:0018484 semicircular canal dehiscence syndrome skos:closeMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21745 LEXMATCH -MONDO:0018484 semicircular canal dehiscence syndrome skos:closeMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018484 LEXMATCH -MONDO:0018484 semicircular canal dehiscence syndrome skos:closeMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018484 LEXMATCH -MONDO:0018484 semicircular canal dehiscence syndrome skos:closeMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420402 LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888925 LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420429 LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21746 LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018485 LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018485 LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420429 LEXMATCH -MONDO:0018486 visual snow syndrome skos:closeMatch Orphanet:420556 Visual snow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420556 LEXMATCH -MONDO:0018486 visual snow syndrome skos:closeMatch Orphanet:420556 Visual snow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12062 LEXMATCH -MONDO:0018486 visual snow syndrome skos:closeMatch Orphanet:420556 Visual snow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018486 LEXMATCH -MONDO:0018486 visual snow syndrome skos:closeMatch Orphanet:420556 Visual snow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018486 LEXMATCH -MONDO:0018486 visual snow syndrome skos:closeMatch Orphanet:420556 Visual snow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420556 LEXMATCH -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:closeMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420699 LEXMATCH -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:closeMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21747 LEXMATCH -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:closeMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018487 LEXMATCH -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:closeMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018487 LEXMATCH -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:closeMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420699 LEXMATCH -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:closeMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420789 LEXMATCH -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:closeMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21749 LEXMATCH -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:closeMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018489 LEXMATCH -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:closeMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018489 LEXMATCH -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:closeMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420789 LEXMATCH -MONDO:0018490 cono-spondylar dysplasia skos:closeMatch Orphanet:420794 Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:420794 LEXMATCH -MONDO:0018490 cono-spondylar dysplasia skos:closeMatch Orphanet:420794 Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21750 LEXMATCH -MONDO:0018490 cono-spondylar dysplasia skos:closeMatch Orphanet:420794 Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018490 LEXMATCH -MONDO:0018490 cono-spondylar dysplasia skos:closeMatch Orphanet:420794 Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018490 LEXMATCH -MONDO:0018490 cono-spondylar dysplasia skos:closeMatch Orphanet:420794 Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:420794 LEXMATCH -MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580190 LEXMATCH -MONDO:0018492 hereditary clear cell renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:422526 LEXMATCH -MONDO:0018492 hereditary clear cell renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9571 LEXMATCH -MONDO:0018492 hereditary clear cell renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018492 LEXMATCH -MONDO:0018492 hereditary clear cell renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018492 LEXMATCH -MONDO:0018492 hereditary clear cell renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:422526 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020844 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024591 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6964 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018493 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018493 LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423 LEXMATCH -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423306 LEXMATCH -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21751 LEXMATCH -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018494 LEXMATCH -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018494 LEXMATCH -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423306 LEXMATCH -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:closeMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423479 LEXMATCH -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:closeMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21752 LEXMATCH -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:closeMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018495 LEXMATCH -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:closeMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018495 LEXMATCH -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:closeMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423479 LEXMATCH -MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum skos:closeMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21753 LEXMATCH -MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum skos:closeMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018496 LEXMATCH -MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum skos:closeMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018496 LEXMATCH -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:closeMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423693 LEXMATCH -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:closeMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21755 LEXMATCH -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:closeMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018498 LEXMATCH -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:closeMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018498 LEXMATCH -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:closeMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423693 LEXMATCH -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:closeMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423712 LEXMATCH -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:closeMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21756 LEXMATCH -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:closeMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018499 LEXMATCH -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:closeMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018499 LEXMATCH -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:closeMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423712 LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:423717 Cutaneous larva migrans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423717 LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:423717 Cutaneous larva migrans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1629 LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:423717 Cutaneous larva migrans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018500 LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:423717 Cutaneous larva migrans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018500 LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:423717 Cutaneous larva migrans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423717 LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 LEXMATCH -MONDO:0018502 hereditary gastric cancer skos:closeMatch Orphanet:423776 Hereditary gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21758 LEXMATCH -MONDO:0018502 hereditary gastric cancer skos:closeMatch Orphanet:423776 Hereditary gastric cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018502 LEXMATCH -MONDO:0018502 hereditary gastric cancer skos:closeMatch Orphanet:423776 Hereditary gastric cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018502 LEXMATCH -MONDO:0018504 undifferentiated carcinoma of stomach skos:closeMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423786 LEXMATCH -MONDO:0018504 undifferentiated carcinoma of stomach skos:closeMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21759 LEXMATCH -MONDO:0018504 undifferentiated carcinoma of stomach skos:closeMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018504 LEXMATCH -MONDO:0018504 undifferentiated carcinoma of stomach skos:closeMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018504 LEXMATCH -MONDO:0018504 undifferentiated carcinoma of stomach skos:closeMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423786 LEXMATCH -MONDO:0018506 mesenchymal tumor of small intestine skos:closeMatch Orphanet:423798 Mesenchymal tumor of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21761 LEXMATCH -MONDO:0018506 mesenchymal tumor of small intestine skos:closeMatch Orphanet:423798 Mesenchymal tumor of small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018506 LEXMATCH -MONDO:0018506 mesenchymal tumor of small intestine skos:closeMatch Orphanet:423798 Mesenchymal tumor of small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018506 LEXMATCH -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:closeMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423894 LEXMATCH -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:closeMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21762 LEXMATCH -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:closeMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018507 LEXMATCH -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:closeMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018507 LEXMATCH -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:closeMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423894 LEXMATCH -MONDO:0018509 squamous cell carcinoma of the small intestine skos:closeMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423968 LEXMATCH -MONDO:0018509 squamous cell carcinoma of the small intestine skos:closeMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21764 LEXMATCH -MONDO:0018509 squamous cell carcinoma of the small intestine skos:closeMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018509 LEXMATCH -MONDO:0018509 squamous cell carcinoma of the small intestine skos:closeMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018509 LEXMATCH -MONDO:0018509 squamous cell carcinoma of the small intestine skos:closeMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423968 LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21765 LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the small intestine LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018510 LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018510 LEXMATCH -MONDO:0018511 epithelial tumor of the appendix skos:closeMatch Orphanet:423982 Epithelial tumor of the appendix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21766 LEXMATCH -MONDO:0018511 epithelial tumor of the appendix skos:closeMatch Orphanet:423982 Epithelial tumor of the appendix semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018511 LEXMATCH -MONDO:0018511 epithelial tumor of the appendix skos:closeMatch Orphanet:423982 Epithelial tumor of the appendix semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018511 LEXMATCH -MONDO:0018513 squamous cell carcinoma of colon skos:closeMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423994 LEXMATCH -MONDO:0018513 squamous cell carcinoma of colon skos:closeMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21768 LEXMATCH -MONDO:0018513 squamous cell carcinoma of colon skos:closeMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018513 LEXMATCH -MONDO:0018513 squamous cell carcinoma of colon skos:closeMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018513 LEXMATCH -MONDO:0018513 squamous cell carcinoma of colon skos:closeMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423994 LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335690 LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424002 LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21770 LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018515 LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018515 LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424002 LEXMATCH -MONDO:0018516 epithelial tumor of anal canal skos:closeMatch Orphanet:424010 Epithelial tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21771 LEXMATCH -MONDO:0018516 epithelial tumor of anal canal skos:closeMatch Orphanet:424010 Epithelial tumor of anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018516 LEXMATCH -MONDO:0018516 epithelial tumor of anal canal skos:closeMatch Orphanet:424010 Epithelial tumor of anal canal semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018516 LEXMATCH -MONDO:0018521 squamous cell carcinoma of pancreas skos:closeMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424039 LEXMATCH -MONDO:0018521 squamous cell carcinoma of pancreas skos:closeMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21776 LEXMATCH -MONDO:0018521 squamous cell carcinoma of pancreas skos:closeMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018521 LEXMATCH -MONDO:0018521 squamous cell carcinoma of pancreas skos:closeMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018521 LEXMATCH -MONDO:0018521 squamous cell carcinoma of pancreas skos:closeMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424039 LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424053 LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21778 LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucinous cystadenocarcinoma of the pancreas LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018523 LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018523 LEXMATCH -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424053 LEXMATCH -MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:closeMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424065 LEXMATCH -MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:closeMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21780 LEXMATCH -MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:closeMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018525 LEXMATCH -MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:closeMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018525 LEXMATCH -MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:closeMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424065 LEXMATCH -MONDO:0018528 congenital myopathy with myasthenic-like onset skos:closeMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424107 LEXMATCH -MONDO:0018528 congenital myopathy with myasthenic-like onset skos:closeMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21783 LEXMATCH -MONDO:0018528 congenital myopathy with myasthenic-like onset skos:closeMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018528 LEXMATCH -MONDO:0018528 congenital myopathy with myasthenic-like onset skos:closeMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018528 LEXMATCH -MONDO:0018528 congenital myopathy with myasthenic-like onset skos:closeMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424107 LEXMATCH -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424936 LEXMATCH -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21786 LEXMATCH -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018531 LEXMATCH -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018531 LEXMATCH -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424936 LEXMATCH -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424970 LEXMATCH -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21788 LEXMATCH -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018533 LEXMATCH -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018533 LEXMATCH -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424970 LEXMATCH -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424975 LEXMATCH -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21789 LEXMATCH -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018534 LEXMATCH -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018534 LEXMATCH -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:closeMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424975 LEXMATCH -MONDO:0018535 biliary cystadenocarcinoma skos:closeMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424982 LEXMATCH -MONDO:0018535 biliary cystadenocarcinoma skos:closeMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21790 LEXMATCH -MONDO:0018535 biliary cystadenocarcinoma skos:closeMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018535 LEXMATCH -MONDO:0018535 biliary cystadenocarcinoma skos:closeMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018535 LEXMATCH -MONDO:0018535 biliary cystadenocarcinoma skos:closeMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424982 LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424991 LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21791 LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018536 LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018536 LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424991 LEXMATCH -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:424996 LEXMATCH -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21792 LEXMATCH -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018537 LEXMATCH -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018537 LEXMATCH -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:424996 LEXMATCH -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:42642 PFAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:42642 LEXMATCH -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:42642 PFAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5657 LEXMATCH -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:42642 PFAPA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018540 LEXMATCH -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:42642 PFAPA syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018540 LEXMATCH -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:42642 PFAPA syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:42642 LEXMATCH -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome LEXMATCH -MONDO:0018541 familial hypoaldosteronism skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:427 LEXMATCH -MONDO:0018541 familial hypoaldosteronism skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16532 LEXMATCH -MONDO:0018541 familial hypoaldosteronism skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018541 LEXMATCH -MONDO:0018541 familial hypoaldosteronism skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018541 LEXMATCH -MONDO:0018541 familial hypoaldosteronism skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:427 LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052210 LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:42738 LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13592 LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018542 LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018542 LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:42738 LEXMATCH -MONDO:0018543 autosomal dominant hypocalcemia skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:428 LEXMATCH -MONDO:0018543 autosomal dominant hypocalcemia skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2877 LEXMATCH -MONDO:0018543 autosomal dominant hypocalcemia skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018543 LEXMATCH -MONDO:0018543 autosomal dominant hypocalcemia skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018543 LEXMATCH -MONDO:0018543 autosomal dominant hypocalcemia skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:428 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300100 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300100 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051260 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:43 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5758 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018544 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018544 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300100 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:43 LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:43116 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18828 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018546 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018546 LEXMATCH -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:43116 LEXMATCH -MONDO:0018547 acute tricyclic antidepressant poisoning skos:closeMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:43117 LEXMATCH -MONDO:0018547 acute tricyclic antidepressant poisoning skos:closeMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18829 LEXMATCH -MONDO:0018547 acute tricyclic antidepressant poisoning skos:closeMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018547 LEXMATCH -MONDO:0018547 acute tricyclic antidepressant poisoning skos:closeMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018547 LEXMATCH -MONDO:0018547 acute tricyclic antidepressant poisoning skos:closeMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:43117 LEXMATCH -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:closeMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:43119 LEXMATCH -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:closeMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18830 LEXMATCH -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:closeMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018548 LEXMATCH -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:closeMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018548 LEXMATCH -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:closeMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:43119 LEXMATCH -MONDO:0018551 patent urachus skos:closeMatch Orphanet:431341 Patent urachus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431341 LEXMATCH -MONDO:0018551 patent urachus skos:closeMatch Orphanet:431341 Patent urachus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21798 LEXMATCH -MONDO:0018551 patent urachus skos:closeMatch Orphanet:431341 Patent urachus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018551 LEXMATCH -MONDO:0018551 patent urachus skos:closeMatch Orphanet:431341 Patent urachus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018551 LEXMATCH -MONDO:0018551 patent urachus skos:closeMatch Orphanet:431341 Patent urachus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431341 LEXMATCH -MONDO:0018552 urachal sinus skos:closeMatch Orphanet:431344 Urachal sinus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431344 LEXMATCH -MONDO:0018552 urachal sinus skos:closeMatch Orphanet:431344 Urachal sinus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21799 LEXMATCH -MONDO:0018552 urachal sinus skos:closeMatch Orphanet:431344 Urachal sinus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018552 LEXMATCH -MONDO:0018552 urachal sinus skos:closeMatch Orphanet:431344 Urachal sinus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018552 LEXMATCH -MONDO:0018552 urachal sinus skos:closeMatch Orphanet:431344 Urachal sinus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431344 LEXMATCH -MONDO:0018553 urachal diverticulum skos:closeMatch Orphanet:431347 Urachal diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:431347 LEXMATCH -MONDO:0018553 urachal diverticulum skos:closeMatch Orphanet:431347 Urachal diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21800 LEXMATCH -MONDO:0018553 urachal diverticulum skos:closeMatch Orphanet:431347 Urachal diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018553 LEXMATCH -MONDO:0018553 urachal diverticulum skos:closeMatch Orphanet:431347 Urachal diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018553 LEXMATCH -MONDO:0018553 urachal diverticulum skos:closeMatch Orphanet:431347 Urachal diverticulum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:431347 LEXMATCH -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21801 LEXMATCH -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018554 LEXMATCH -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018554 LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated congenital gonadotropin deficiency LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:432 LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16533 LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018555 LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018555 LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:432 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067685 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022972 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:43393 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6851 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018556 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018556 LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:43393 LEXMATCH -MONDO:0018559 fetal lower urinary tract obstruction skos:closeMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435365 LEXMATCH -MONDO:0018559 fetal lower urinary tract obstruction skos:closeMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21804 LEXMATCH -MONDO:0018559 fetal lower urinary tract obstruction skos:closeMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018559 LEXMATCH -MONDO:0018559 fetal lower urinary tract obstruction skos:closeMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018559 LEXMATCH -MONDO:0018559 fetal lower urinary tract obstruction skos:closeMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435365 LEXMATCH -MONDO:0018561 precocious puberty in female skos:closeMatch Orphanet:435561 Rare precocious puberty in female semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21807 LEXMATCH -MONDO:0018561 precocious puberty in female skos:closeMatch Orphanet:435561 Rare precocious puberty in female semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018561 LEXMATCH -MONDO:0018561 precocious puberty in female skos:closeMatch Orphanet:435561 Rare precocious puberty in female semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018561 LEXMATCH -MONDO:0018564 3p25.3 microdeletion syndrome skos:closeMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435638 LEXMATCH -MONDO:0018564 3p25.3 microdeletion syndrome skos:closeMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21813 LEXMATCH -MONDO:0018564 3p25.3 microdeletion syndrome skos:closeMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018564 LEXMATCH -MONDO:0018564 3p25.3 microdeletion syndrome skos:closeMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018564 LEXMATCH -MONDO:0018564 3p25.3 microdeletion syndrome skos:closeMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435638 LEXMATCH -MONDO:0018565 congenital urachal anomaly skos:closeMatch Orphanet:435743 Congenital urachal anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435743 LEXMATCH -MONDO:0018565 congenital urachal anomaly skos:closeMatch Orphanet:435743 Congenital urachal anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21814 LEXMATCH -MONDO:0018565 congenital urachal anomaly skos:closeMatch Orphanet:435743 Congenital urachal anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018565 LEXMATCH -MONDO:0018565 congenital urachal anomaly skos:closeMatch Orphanet:435743 Congenital urachal anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018565 LEXMATCH -MONDO:0018565 congenital urachal anomaly skos:closeMatch Orphanet:435743 Congenital urachal anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435743 LEXMATCH -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435804 LEXMATCH -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17717 LEXMATCH -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018566 LEXMATCH -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018566 LEXMATCH -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435804 LEXMATCH -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435819 LEXMATCH -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21815 LEXMATCH -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018567 LEXMATCH -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018567 LEXMATCH -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435819 LEXMATCH -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435938 LEXMATCH -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17721 LEXMATCH -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018569 LEXMATCH -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018569 LEXMATCH -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435938 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049933 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020630 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6734 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018570 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018570 LEXMATCH -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436 LEXMATCH -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:closeMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436003 LEXMATCH -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:closeMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21816 LEXMATCH -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:closeMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018571 LEXMATCH -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:closeMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018571 LEXMATCH -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:closeMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436003 LEXMATCH -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:closeMatch Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436141 LEXMATCH -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:closeMatch Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21817 LEXMATCH -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:closeMatch Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018572 LEXMATCH -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:closeMatch Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018572 LEXMATCH -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:closeMatch Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436141 LEXMATCH -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:closeMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436144 LEXMATCH -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:closeMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21818 LEXMATCH -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:closeMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018573 LEXMATCH -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:closeMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018573 LEXMATCH -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:closeMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436144 LEXMATCH -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436151 LEXMATCH -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17724 LEXMATCH -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018574 LEXMATCH -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018574 LEXMATCH -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436151 LEXMATCH -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:closeMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436271 LEXMATCH -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:closeMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21819 LEXMATCH -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:closeMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018576 LEXMATCH -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:closeMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018576 LEXMATCH -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:closeMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436271 LEXMATCH -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:closeMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436274 LEXMATCH -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:closeMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21820 LEXMATCH -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:closeMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018577 LEXMATCH -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:closeMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018577 LEXMATCH -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:closeMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436274 LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861457 LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438266 LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13110 LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018581 LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018581 LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438266 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619290 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438274 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10460 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018582 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018582 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619290 LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:closeMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438274 LEXMATCH -MONDO:0018583 human infection by orthopoxvirus skos:closeMatch Orphanet:438279 Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:438279 LEXMATCH -MONDO:0018583 human infection by orthopoxvirus skos:closeMatch Orphanet:438279 Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21822 LEXMATCH -MONDO:0018583 human infection by orthopoxvirus skos:closeMatch Orphanet:438279 Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018583 LEXMATCH -MONDO:0018583 human infection by orthopoxvirus skos:closeMatch Orphanet:438279 Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018583 LEXMATCH -MONDO:0018583 human infection by orthopoxvirus skos:closeMatch Orphanet:438279 Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:438279 LEXMATCH -MONDO:0018585 pediatric arterial ischemic stroke skos:closeMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439175 LEXMATCH -MONDO:0018585 pediatric arterial ischemic stroke skos:closeMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21824 LEXMATCH -MONDO:0018585 pediatric arterial ischemic stroke skos:closeMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018585 LEXMATCH -MONDO:0018585 pediatric arterial ischemic stroke skos:closeMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018585 LEXMATCH -MONDO:0018585 pediatric arterial ischemic stroke skos:closeMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439175 LEXMATCH -MONDO:0018586 zinc-responsive necrolytic acral erythema skos:closeMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439196 LEXMATCH -MONDO:0018586 zinc-responsive necrolytic acral erythema skos:closeMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21825 LEXMATCH -MONDO:0018586 zinc-responsive necrolytic acral erythema skos:closeMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018586 LEXMATCH -MONDO:0018586 zinc-responsive necrolytic acral erythema skos:closeMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018586 LEXMATCH -MONDO:0018586 zinc-responsive necrolytic acral erythema skos:closeMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439196 LEXMATCH -MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:closeMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439202 LEXMATCH -MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:closeMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21826 LEXMATCH -MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:closeMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018587 LEXMATCH -MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:closeMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018587 LEXMATCH -MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:closeMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439202 LEXMATCH -MONDO:0018588 ALECT2 amyloidosis skos:closeMatch Orphanet:439224 ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439224 LEXMATCH -MONDO:0018588 ALECT2 amyloidosis skos:closeMatch Orphanet:439224 ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21827 LEXMATCH -MONDO:0018588 ALECT2 amyloidosis skos:closeMatch Orphanet:439224 ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018588 LEXMATCH -MONDO:0018588 ALECT2 amyloidosis skos:closeMatch Orphanet:439224 ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018588 LEXMATCH -MONDO:0018588 ALECT2 amyloidosis skos:closeMatch Orphanet:439224 ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439224 LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:closeMatch Orphanet:439232 AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439232 LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:closeMatch Orphanet:439232 AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21828 LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:closeMatch Orphanet:439232 AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018589 LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:closeMatch Orphanet:439232 AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018589 LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:closeMatch Orphanet:439232 AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439232 LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:closeMatch Orphanet:439246 ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439246 LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:closeMatch Orphanet:439246 ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21829 LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:closeMatch Orphanet:439246 ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018590 LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:closeMatch Orphanet:439246 ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018590 LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:closeMatch Orphanet:439246 ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439246 LEXMATCH -MONDO:0018591 ITM2B amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439254 LEXMATCH -MONDO:0018591 ITM2B amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17741 LEXMATCH -MONDO:0018591 ITM2B amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018591 LEXMATCH -MONDO:0018591 ITM2B amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018591 LEXMATCH -MONDO:0018591 ITM2B amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439254 LEXMATCH -MONDO:0018592 cutaneous polyarteritis nodosa skos:closeMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439729 LEXMATCH -MONDO:0018592 cutaneous polyarteritis nodosa skos:closeMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7415 LEXMATCH -MONDO:0018592 cutaneous polyarteritis nodosa skos:closeMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018592 LEXMATCH -MONDO:0018592 cutaneous polyarteritis nodosa skos:closeMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018592 LEXMATCH -MONDO:0018592 cutaneous polyarteritis nodosa skos:closeMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439729 LEXMATCH -MONDO:0018593 primary polyarteritis nodosa skos:closeMatch Orphanet:439737 Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439737 LEXMATCH -MONDO:0018593 primary polyarteritis nodosa skos:closeMatch Orphanet:439737 Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21830 LEXMATCH -MONDO:0018593 primary polyarteritis nodosa skos:closeMatch Orphanet:439737 Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018593 LEXMATCH -MONDO:0018593 primary polyarteritis nodosa skos:closeMatch Orphanet:439737 Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018593 LEXMATCH -MONDO:0018593 primary polyarteritis nodosa skos:closeMatch Orphanet:439737 Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439737 LEXMATCH -MONDO:0018594 secondary polyarteritis nodosa skos:closeMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439746 LEXMATCH -MONDO:0018594 secondary polyarteritis nodosa skos:closeMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21831 LEXMATCH -MONDO:0018594 secondary polyarteritis nodosa skos:closeMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018594 LEXMATCH -MONDO:0018594 secondary polyarteritis nodosa skos:closeMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018594 LEXMATCH -MONDO:0018594 secondary polyarteritis nodosa skos:closeMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439746 LEXMATCH -MONDO:0018595 single-organ polyarteritis nodosa skos:closeMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439755 LEXMATCH -MONDO:0018595 single-organ polyarteritis nodosa skos:closeMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21832 LEXMATCH -MONDO:0018595 single-organ polyarteritis nodosa skos:closeMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018595 LEXMATCH -MONDO:0018595 single-organ polyarteritis nodosa skos:closeMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018595 LEXMATCH -MONDO:0018595 single-organ polyarteritis nodosa skos:closeMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439755 LEXMATCH -MONDO:0018596 systemic polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439762 LEXMATCH -MONDO:0018596 systemic polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21833 LEXMATCH -MONDO:0018596 systemic polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018596 LEXMATCH -MONDO:0018596 systemic polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018596 LEXMATCH -MONDO:0018596 systemic polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439762 LEXMATCH -MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:439881 LEXMATCH -MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21835 LEXMATCH -MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018597 LEXMATCH -MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018597 LEXMATCH -MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:439881 LEXMATCH -MONDO:0018599 congenital oculomotor nerve palsy skos:closeMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440221 LEXMATCH -MONDO:0018599 congenital oculomotor nerve palsy skos:closeMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21836 LEXMATCH -MONDO:0018599 congenital oculomotor nerve palsy skos:closeMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018599 LEXMATCH -MONDO:0018599 congenital oculomotor nerve palsy skos:closeMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018599 LEXMATCH -MONDO:0018599 congenital oculomotor nerve palsy skos:closeMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440221 LEXMATCH -MONDO:0018600 congenital abducens nerve palsy skos:closeMatch Orphanet:440233 Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440233 LEXMATCH -MONDO:0018600 congenital abducens nerve palsy skos:closeMatch Orphanet:440233 Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21837 LEXMATCH -MONDO:0018600 congenital abducens nerve palsy skos:closeMatch Orphanet:440233 Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018600 LEXMATCH -MONDO:0018600 congenital abducens nerve palsy skos:closeMatch Orphanet:440233 Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018600 LEXMATCH -MONDO:0018600 congenital abducens nerve palsy skos:closeMatch Orphanet:440233 Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440233 LEXMATCH -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440354 LEXMATCH -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21838 LEXMATCH -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018601 LEXMATCH -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018601 LEXMATCH -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440354 LEXMATCH -MONDO:0018602 necrotizing soft tissue infection skos:closeMatch Orphanet:440368 Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440368 LEXMATCH -MONDO:0018602 necrotizing soft tissue infection skos:closeMatch Orphanet:440368 Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21839 LEXMATCH -MONDO:0018602 necrotizing soft tissue infection skos:closeMatch Orphanet:440368 Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018602 LEXMATCH -MONDO:0018602 necrotizing soft tissue infection skos:closeMatch Orphanet:440368 Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018602 LEXMATCH -MONDO:0018602 necrotizing soft tissue infection skos:closeMatch Orphanet:440368 Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440368 LEXMATCH -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440392 LEXMATCH -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17744 LEXMATCH -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018603 LEXMATCH -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018603 LEXMATCH -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440392 LEXMATCH -MONDO:0018604 familial colorectal cancer type X skos:closeMatch Orphanet:440437 Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440437 LEXMATCH -MONDO:0018604 familial colorectal cancer type X skos:closeMatch Orphanet:440437 Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21840 LEXMATCH -MONDO:0018604 familial colorectal cancer type X skos:closeMatch Orphanet:440437 Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018604 LEXMATCH -MONDO:0018604 familial colorectal cancer type X skos:closeMatch Orphanet:440437 Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018604 LEXMATCH -MONDO:0018604 familial colorectal cancer type X skos:closeMatch Orphanet:440437 Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440437 LEXMATCH -MONDO:0018605 disorders of pentose/polyol metabolism skos:closeMatch Orphanet:440701 Disorders of pentose/polyol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21841 LEXMATCH -MONDO:0018605 disorders of pentose/polyol metabolism skos:closeMatch Orphanet:440701 Disorders of pentose/polyol metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018605 LEXMATCH -MONDO:0018605 disorders of pentose/polyol metabolism skos:closeMatch Orphanet:440701 Disorders of pentose/polyol metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018605 LEXMATCH -MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:closeMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440724 LEXMATCH -MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:closeMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21842 LEXMATCH -MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:closeMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018606 LEXMATCH -MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:closeMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018606 LEXMATCH -MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:closeMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440724 LEXMATCH -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:closeMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440727 LEXMATCH -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:closeMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21843 LEXMATCH -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:closeMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018607 LEXMATCH -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:closeMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018607 LEXMATCH -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:closeMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:440727 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:441 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10428 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018608 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018608 LEXMATCH -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:441 LEXMATCH -MONDO:0018610 early-onset posterior subcapsular cataract skos:closeMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:441447 LEXMATCH -MONDO:0018610 early-onset posterior subcapsular cataract skos:closeMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21846 LEXMATCH -MONDO:0018610 early-onset posterior subcapsular cataract skos:closeMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018610 LEXMATCH -MONDO:0018610 early-onset posterior subcapsular cataract skos:closeMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018610 LEXMATCH -MONDO:0018610 early-onset posterior subcapsular cataract skos:closeMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:441447 LEXMATCH -MONDO:0018611 early-onset lamellar cataract skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:441452 LEXMATCH -MONDO:0018611 early-onset lamellar cataract skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13155 LEXMATCH -MONDO:0018611 early-onset lamellar cataract skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018611 LEXMATCH -MONDO:0018611 early-onset lamellar cataract skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018611 LEXMATCH -MONDO:0018611 early-onset lamellar cataract skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:441452 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010510 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010308 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1487 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018612 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018612 LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:442 LEXMATCH -MONDO:0018613 AH amyloidosis skos:closeMatch Orphanet:442582 AH amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442582 LEXMATCH -MONDO:0018613 AH amyloidosis skos:closeMatch Orphanet:442582 AH amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21847 LEXMATCH -MONDO:0018613 AH amyloidosis skos:closeMatch Orphanet:442582 AH amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018613 LEXMATCH -MONDO:0018613 AH amyloidosis skos:closeMatch Orphanet:442582 AH amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018613 LEXMATCH -MONDO:0018613 AH amyloidosis skos:closeMatch Orphanet:442582 AH amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:442582 LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442835 LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15028 LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018614 LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018614 LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:442835 LEXMATCH -MONDO:0018615 hemicrania continua skos:closeMatch Orphanet:443070 Hemicrania continua semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443070 LEXMATCH -MONDO:0018615 hemicrania continua skos:closeMatch Orphanet:443070 Hemicrania continua semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10795 LEXMATCH -MONDO:0018615 hemicrania continua skos:closeMatch Orphanet:443070 Hemicrania continua semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018615 LEXMATCH -MONDO:0018615 hemicrania continua skos:closeMatch Orphanet:443070 Hemicrania continua semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018615 LEXMATCH -MONDO:0018615 hemicrania continua skos:closeMatch Orphanet:443070 Hemicrania continua semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443070 LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730328 LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443079 LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:200 LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018616 LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018616 LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443079 LEXMATCH -MONDO:0018617 baroreflex failure skos:closeMatch Orphanet:443084 Baroreflex failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443084 LEXMATCH -MONDO:0018617 baroreflex failure skos:closeMatch Orphanet:443084 Baroreflex failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10664 LEXMATCH -MONDO:0018617 baroreflex failure skos:closeMatch Orphanet:443084 Baroreflex failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018617 LEXMATCH -MONDO:0018617 baroreflex failure skos:closeMatch Orphanet:443084 Baroreflex failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018617 LEXMATCH -MONDO:0018617 baroreflex failure skos:closeMatch Orphanet:443084 Baroreflex failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443084 LEXMATCH -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443101 LEXMATCH -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21850 LEXMATCH -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018620 LEXMATCH -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018620 LEXMATCH -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443101 LEXMATCH -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:closeMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443159 LEXMATCH -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:closeMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21851 LEXMATCH -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:closeMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018621 LEXMATCH -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:closeMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018621 LEXMATCH -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:closeMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443159 LEXMATCH -MONDO:0018623 postpartum psychosis skos:closeMatch Orphanet:443173 Postpartum psychosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443173 LEXMATCH -MONDO:0018623 postpartum psychosis skos:closeMatch Orphanet:443173 Postpartum psychosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21853 LEXMATCH -MONDO:0018623 postpartum psychosis skos:closeMatch Orphanet:443173 Postpartum psychosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018623 LEXMATCH -MONDO:0018623 postpartum psychosis skos:closeMatch Orphanet:443173 Postpartum psychosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018623 LEXMATCH -MONDO:0018623 postpartum psychosis skos:closeMatch Orphanet:443173 Postpartum psychosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443173 LEXMATCH -MONDO:0018624 spontaneous intracranial hypotension skos:closeMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443180 LEXMATCH -MONDO:0018624 spontaneous intracranial hypotension skos:closeMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21854 LEXMATCH -MONDO:0018624 spontaneous intracranial hypotension skos:closeMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018624 LEXMATCH -MONDO:0018624 spontaneous intracranial hypotension skos:closeMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018624 LEXMATCH -MONDO:0018624 spontaneous intracranial hypotension skos:closeMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443180 LEXMATCH -MONDO:0018625 classic stiff person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443192 LEXMATCH -MONDO:0018625 classic stiff person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17754 LEXMATCH -MONDO:0018625 classic stiff person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018625 LEXMATCH -MONDO:0018625 classic stiff person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018625 LEXMATCH -MONDO:0018625 classic stiff person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443192 LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030528 LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443227 LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21855 LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018626 LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018626 LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443227 LEXMATCH -MONDO:0018628 HIV-associated cancer skos:closeMatch Orphanet:443291 HIV-associated cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443291 LEXMATCH -MONDO:0018628 HIV-associated cancer skos:closeMatch Orphanet:443291 HIV-associated cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21857 LEXMATCH -MONDO:0018628 HIV-associated cancer skos:closeMatch Orphanet:443291 HIV-associated cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018628 LEXMATCH -MONDO:0018628 HIV-associated cancer skos:closeMatch Orphanet:443291 HIV-associated cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018628 LEXMATCH -MONDO:0018628 HIV-associated cancer skos:closeMatch Orphanet:443291 HIV-associated cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443291 LEXMATCH -MONDO:0018629 focal stiff limb syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443804 LEXMATCH -MONDO:0018629 focal stiff limb syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17756 LEXMATCH -MONDO:0018629 focal stiff limb syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018629 LEXMATCH -MONDO:0018629 focal stiff limb syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018629 LEXMATCH -MONDO:0018629 focal stiff limb syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443804 LEXMATCH -MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:443909 LEXMATCH -MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8533 LEXMATCH -MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018630 LEXMATCH -MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018630 LEXMATCH -MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:443909 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931059 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15078 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3390 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018631 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018631 LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444 LEXMATCH -MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:closeMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444002 LEXMATCH -MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:closeMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21858 LEXMATCH -MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:closeMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018632 LEXMATCH -MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:closeMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018632 LEXMATCH -MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:closeMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444002 LEXMATCH -MONDO:0018633 20q11.2 microdeletion syndrome skos:closeMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444051 LEXMATCH -MONDO:0018633 20q11.2 microdeletion syndrome skos:closeMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21859 LEXMATCH -MONDO:0018633 20q11.2 microdeletion syndrome skos:closeMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018633 LEXMATCH -MONDO:0018633 20q11.2 microdeletion syndrome skos:closeMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018633 LEXMATCH -MONDO:0018633 20q11.2 microdeletion syndrome skos:closeMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444051 LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206246 LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444116 LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6611 LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018634 LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018634 LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444116 LEXMATCH -MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:closeMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444316 LEXMATCH -MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:closeMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21860 LEXMATCH -MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:closeMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018635 LEXMATCH -MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:closeMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018635 LEXMATCH -MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:closeMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444316 LEXMATCH -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444463 LEXMATCH -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17766 LEXMATCH -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018636 LEXMATCH -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018636 LEXMATCH -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444463 LEXMATCH -MONDO:0018637 familial chylomicronemia syndrome skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444490 LEXMATCH -MONDO:0018637 familial chylomicronemia syndrome skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6414 LEXMATCH -MONDO:0018637 familial chylomicronemia syndrome skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018637 LEXMATCH -MONDO:0018637 familial chylomicronemia syndrome skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018637 LEXMATCH -MONDO:0018637 familial chylomicronemia syndrome skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444490 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033805 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:444916 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21861 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018638 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018638 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:444916 LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 LEXMATCH -MONDO:0018639 caudal regression-sirenomelia spectrum skos:closeMatch Orphanet:444941 Caudal regression-sirenomelia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21862 LEXMATCH -MONDO:0018639 caudal regression-sirenomelia spectrum skos:closeMatch Orphanet:444941 Caudal regression-sirenomelia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018639 LEXMATCH -MONDO:0018639 caudal regression-sirenomelia spectrum skos:closeMatch Orphanet:444941 Caudal regression-sirenomelia spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018639 LEXMATCH -MONDO:0018640 secondary vasculitis skos:closeMatch Orphanet:445197 Secondary vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21863 LEXMATCH -MONDO:0018640 secondary vasculitis skos:closeMatch Orphanet:445197 Secondary vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018640 LEXMATCH -MONDO:0018640 secondary vasculitis skos:closeMatch Orphanet:445197 Secondary vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018640 LEXMATCH -MONDO:0018642 NIK deficiency skos:closeMatch Orphanet:447731 NIK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447731 LEXMATCH -MONDO:0018642 NIK deficiency skos:closeMatch Orphanet:447731 NIK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21864 LEXMATCH -MONDO:0018642 NIK deficiency skos:closeMatch Orphanet:447731 NIK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018642 LEXMATCH -MONDO:0018642 NIK deficiency skos:closeMatch Orphanet:447731 NIK deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018642 LEXMATCH -MONDO:0018642 NIK deficiency skos:closeMatch Orphanet:447731 NIK deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447731 LEXMATCH -MONDO:0018643 susceptibility to localized juvenile periodontitis skos:closeMatch Orphanet:447740 Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447740 LEXMATCH -MONDO:0018643 susceptibility to localized juvenile periodontitis skos:closeMatch Orphanet:447740 Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21865 LEXMATCH -MONDO:0018643 susceptibility to localized juvenile periodontitis skos:closeMatch Orphanet:447740 Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018643 LEXMATCH -MONDO:0018643 susceptibility to localized juvenile periodontitis skos:closeMatch Orphanet:447740 Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018643 LEXMATCH -MONDO:0018643 susceptibility to localized juvenile periodontitis skos:closeMatch Orphanet:447740 Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447740 LEXMATCH -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:closeMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447757 LEXMATCH -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:closeMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21866 LEXMATCH -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:closeMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018644 LEXMATCH -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:closeMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018644 LEXMATCH -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:closeMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447757 LEXMATCH -MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447764 LEXMATCH -MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21867 LEXMATCH -MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018645 LEXMATCH -MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018645 LEXMATCH -MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447764 LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008313 LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447771 LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21868 LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018646 LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018646 LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447771 LEXMATCH -MONDO:0018647 secondary sclerosing cholangitis skos:closeMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447774 LEXMATCH -MONDO:0018647 secondary sclerosing cholangitis skos:closeMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21869 LEXMATCH -MONDO:0018647 secondary sclerosing cholangitis skos:closeMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018647 LEXMATCH -MONDO:0018647 secondary sclerosing cholangitis skos:closeMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018647 LEXMATCH -MONDO:0018647 secondary sclerosing cholangitis skos:closeMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447774 LEXMATCH -MONDO:0018648 Keratocystic odontogenic tumor skos:closeMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447777 LEXMATCH -MONDO:0018648 Keratocystic odontogenic tumor skos:closeMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21870 LEXMATCH -MONDO:0018648 Keratocystic odontogenic tumor skos:closeMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018648 LEXMATCH -MONDO:0018648 Keratocystic odontogenic tumor skos:closeMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018648 LEXMATCH -MONDO:0018648 Keratocystic odontogenic tumor skos:closeMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447777 LEXMATCH -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447877 LEXMATCH -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17772 LEXMATCH -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018653 LEXMATCH -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018653 LEXMATCH -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447877 LEXMATCH -MONDO:0018654 idiopathic dropped head syndrome skos:closeMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447881 LEXMATCH -MONDO:0018654 idiopathic dropped head syndrome skos:closeMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21874 LEXMATCH -MONDO:0018654 idiopathic dropped head syndrome skos:closeMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018654 LEXMATCH -MONDO:0018654 idiopathic dropped head syndrome skos:closeMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018654 LEXMATCH -MONDO:0018654 idiopathic dropped head syndrome skos:closeMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447881 LEXMATCH -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447893 LEXMATCH -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17773 LEXMATCH -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018655 LEXMATCH -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018655 LEXMATCH -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447893 LEXMATCH -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447896 LEXMATCH -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17774 LEXMATCH -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018656 LEXMATCH -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018656 LEXMATCH -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447896 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618373 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447961 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17776 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018657 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018657 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618373 LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447961 LEXMATCH -MONDO:0018658 19p13.3 microduplication syndrome skos:closeMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447980 LEXMATCH -MONDO:0018658 19p13.3 microduplication syndrome skos:closeMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21875 LEXMATCH -MONDO:0018658 19p13.3 microduplication syndrome skos:closeMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018658 LEXMATCH -MONDO:0018658 19p13.3 microduplication syndrome skos:closeMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018658 LEXMATCH -MONDO:0018658 19p13.3 microduplication syndrome skos:closeMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447980 LEXMATCH -MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:closeMatch Orphanet:447985 Partial duplication of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21876 LEXMATCH -MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:closeMatch Orphanet:447985 Partial duplication of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018659 LEXMATCH -MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:closeMatch Orphanet:447985 Partial duplication of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018659 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061992 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684275 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10418 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018660 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018660 LEXMATCH -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448 LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:closeMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448237 LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:closeMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12894 LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:closeMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018661 LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:closeMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018661 LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:closeMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448237 LEXMATCH -MONDO:0018662 autosomal recessive brachyolmia skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448242 LEXMATCH -MONDO:0018662 autosomal recessive brachyolmia skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13171 LEXMATCH -MONDO:0018662 autosomal recessive brachyolmia skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018662 LEXMATCH -MONDO:0018662 autosomal recessive brachyolmia skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018662 LEXMATCH -MONDO:0018662 autosomal recessive brachyolmia skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448242 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618019 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448267 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17782 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018663 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018663 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618019 LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448267 LEXMATCH -MONDO:0018664 ectopia cordis skos:closeMatch Orphanet:448270 Ectopia cordis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:448270 LEXMATCH -MONDO:0018664 ectopia cordis skos:closeMatch Orphanet:448270 Ectopia cordis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21877 LEXMATCH -MONDO:0018664 ectopia cordis skos:closeMatch Orphanet:448270 Ectopia cordis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018664 LEXMATCH -MONDO:0018664 ectopia cordis skos:closeMatch Orphanet:448270 Ectopia cordis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018664 LEXMATCH -MONDO:0018664 ectopia cordis skos:closeMatch Orphanet:448270 Ectopia cordis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:448270 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062001 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2657 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018666 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018666 LEXMATCH -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449 LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch Orphanet:449266 Pleural empyema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449266 LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch Orphanet:449266 Pleural empyema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21879 LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch Orphanet:449266 Pleural empyema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018667 LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch Orphanet:449266 Pleural empyema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018667 LEXMATCH -MONDO:0018667 pleural empyema skos:closeMatch Orphanet:449266 Pleural empyema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449266 LEXMATCH -MONDO:0018668 scedosporiosis skos:closeMatch Orphanet:449280 Scedosporiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449280 LEXMATCH -MONDO:0018668 scedosporiosis skos:closeMatch Orphanet:449280 Scedosporiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21880 LEXMATCH -MONDO:0018668 scedosporiosis skos:closeMatch Orphanet:449280 Scedosporiosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018668 LEXMATCH -MONDO:0018668 scedosporiosis skos:closeMatch Orphanet:449280 Scedosporiosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018668 LEXMATCH -MONDO:0018668 scedosporiosis skos:closeMatch Orphanet:449280 Scedosporiosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449280 LEXMATCH -MONDO:0018669 snakebite envenomation skos:closeMatch Orphanet:449285 Snakebite envenomation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449285 LEXMATCH -MONDO:0018669 snakebite envenomation skos:closeMatch Orphanet:449285 Snakebite envenomation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21881 LEXMATCH -MONDO:0018669 snakebite envenomation skos:closeMatch Orphanet:449285 Snakebite envenomation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018669 LEXMATCH -MONDO:0018669 snakebite envenomation skos:closeMatch Orphanet:449285 Snakebite envenomation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018669 LEXMATCH -MONDO:0018669 snakebite envenomation skos:closeMatch Orphanet:449285 Snakebite envenomation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449285 LEXMATCH -MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449291 LEXMATCH -MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17783 LEXMATCH -MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018670 LEXMATCH -MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018670 LEXMATCH -MONDO:0018670 symptomatic form of fragile X syndrome in female carrier skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449291 LEXMATCH -MONDO:0018671 IgG4-related kidney disease skos:closeMatch Orphanet:449395 IgG4-related kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449395 LEXMATCH -MONDO:0018671 IgG4-related kidney disease skos:closeMatch Orphanet:449395 IgG4-related kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21882 LEXMATCH -MONDO:0018671 IgG4-related kidney disease skos:closeMatch Orphanet:449395 IgG4-related kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018671 LEXMATCH -MONDO:0018671 IgG4-related kidney disease skos:closeMatch Orphanet:449395 IgG4-related kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018671 LEXMATCH -MONDO:0018671 IgG4-related kidney disease skos:closeMatch Orphanet:449395 IgG4-related kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449395 LEXMATCH -MONDO:0018672 IgG4-related aortitis skos:closeMatch Orphanet:449400 IgG4-related aortitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449400 LEXMATCH -MONDO:0018672 IgG4-related aortitis skos:closeMatch Orphanet:449400 IgG4-related aortitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21883 LEXMATCH -MONDO:0018672 IgG4-related aortitis skos:closeMatch Orphanet:449400 IgG4-related aortitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018672 LEXMATCH -MONDO:0018672 IgG4-related aortitis skos:closeMatch Orphanet:449400 IgG4-related aortitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018672 LEXMATCH -MONDO:0018672 IgG4-related aortitis skos:closeMatch Orphanet:449400 IgG4-related aortitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449400 LEXMATCH -MONDO:0018673 IgG4-related pachymeningitis skos:closeMatch Orphanet:449427 IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449427 LEXMATCH -MONDO:0018673 IgG4-related pachymeningitis skos:closeMatch Orphanet:449427 IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13256 LEXMATCH -MONDO:0018673 IgG4-related pachymeningitis skos:closeMatch Orphanet:449427 IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018673 LEXMATCH -MONDO:0018673 IgG4-related pachymeningitis skos:closeMatch Orphanet:449427 IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018673 LEXMATCH -MONDO:0018673 IgG4-related pachymeningitis skos:closeMatch Orphanet:449427 IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449427 LEXMATCH -MONDO:0018674 IgG4-related submandibular gland disease skos:closeMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449432 LEXMATCH -MONDO:0018674 IgG4-related submandibular gland disease skos:closeMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21884 LEXMATCH -MONDO:0018674 IgG4-related submandibular gland disease skos:closeMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018674 LEXMATCH -MONDO:0018674 IgG4-related submandibular gland disease skos:closeMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018674 LEXMATCH -MONDO:0018674 IgG4-related submandibular gland disease skos:closeMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449432 LEXMATCH -MONDO:0018675 IgG4-related ophthalmic disorder skos:closeMatch Orphanet:449563 IgG4-related ophthalmic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449563 LEXMATCH -MONDO:0018675 IgG4-related ophthalmic disorder skos:closeMatch Orphanet:449563 IgG4-related ophthalmic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21885 LEXMATCH -MONDO:0018675 IgG4-related ophthalmic disorder skos:closeMatch Orphanet:449563 IgG4-related ophthalmic disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018675 LEXMATCH -MONDO:0018675 IgG4-related ophthalmic disorder skos:closeMatch Orphanet:449563 IgG4-related ophthalmic disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018675 LEXMATCH -MONDO:0018675 IgG4-related ophthalmic disorder skos:closeMatch Orphanet:449563 IgG4-related ophthalmic disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449563 LEXMATCH -MONDO:0018676 eosinophilic angiocentric fibrosis skos:closeMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:449566 LEXMATCH -MONDO:0018676 eosinophilic angiocentric fibrosis skos:closeMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21886 LEXMATCH -MONDO:0018676 eosinophilic angiocentric fibrosis skos:closeMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018676 LEXMATCH -MONDO:0018676 eosinophilic angiocentric fibrosis skos:closeMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018676 LEXMATCH -MONDO:0018676 eosinophilic angiocentric fibrosis skos:closeMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:449566 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059119 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:157769 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20013 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018677 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018677 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:157769 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067265 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178805 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:450 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10875 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018677 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018677 LEXMATCH -MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:450 LEXMATCH -MONDO:0018678 polyclonal hyperviscosity syndrome skos:closeMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:450322 LEXMATCH -MONDO:0018678 polyclonal hyperviscosity syndrome skos:closeMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21887 LEXMATCH -MONDO:0018678 polyclonal hyperviscosity syndrome skos:closeMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018678 LEXMATCH -MONDO:0018678 polyclonal hyperviscosity syndrome skos:closeMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018678 LEXMATCH -MONDO:0018678 polyclonal hyperviscosity syndrome skos:closeMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:450322 LEXMATCH -MONDO:0018679 primary cutaneous plasmacytosis skos:closeMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:451602 LEXMATCH -MONDO:0018679 primary cutaneous plasmacytosis skos:closeMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21888 LEXMATCH -MONDO:0018679 primary cutaneous plasmacytosis skos:closeMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018679 LEXMATCH -MONDO:0018679 primary cutaneous plasmacytosis skos:closeMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018679 LEXMATCH -MONDO:0018679 primary cutaneous plasmacytosis skos:closeMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:451602 LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311220 LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:451607 LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21889 LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018680 LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018680 LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:closeMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:451607 LEXMATCH -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:453499 LEXMATCH -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17785 LEXMATCH -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018681 LEXMATCH -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018681 LEXMATCH -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:453499 LEXMATCH -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:closeMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:453510 LEXMATCH -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:closeMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21890 LEXMATCH -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:closeMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018682 LEXMATCH -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:closeMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018682 LEXMATCH -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:closeMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:453510 LEXMATCH -MONDO:0018683 acquired ichthyosis skos:closeMatch Orphanet:454 Acquired ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454 LEXMATCH -MONDO:0018683 acquired ichthyosis skos:closeMatch Orphanet:454 Acquired ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:476 LEXMATCH -MONDO:0018683 acquired ichthyosis skos:closeMatch Orphanet:454 Acquired ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018683 LEXMATCH -MONDO:0018683 acquired ichthyosis skos:closeMatch Orphanet:454 Acquired ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018683 LEXMATCH -MONDO:0018683 acquired ichthyosis skos:closeMatch Orphanet:454 Acquired ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454 LEXMATCH -MONDO:0018684 idiopathic neonatal atrial flutter skos:closeMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:45452 LEXMATCH -MONDO:0018684 idiopathic neonatal atrial flutter skos:closeMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18831 LEXMATCH -MONDO:0018684 idiopathic neonatal atrial flutter skos:closeMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018684 LEXMATCH -MONDO:0018684 idiopathic neonatal atrial flutter skos:closeMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018684 LEXMATCH -MONDO:0018684 idiopathic neonatal atrial flutter skos:closeMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:45452 LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340487 LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:45453 LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18832 LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018685 LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018685 LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:45453 LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sporadic cjd LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454700 LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17788 LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018686 LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018686 LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454700 LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917981 LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454706 LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21891 LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018687 LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018687 LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454706 LEXMATCH -MONDO:0018688 anti-p200 pemphigoid skos:closeMatch Orphanet:454710 Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454710 LEXMATCH -MONDO:0018688 anti-p200 pemphigoid skos:closeMatch Orphanet:454710 Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21892 LEXMATCH -MONDO:0018688 anti-p200 pemphigoid skos:closeMatch Orphanet:454710 Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018688 LEXMATCH -MONDO:0018688 anti-p200 pemphigoid skos:closeMatch Orphanet:454710 Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018688 LEXMATCH -MONDO:0018688 anti-p200 pemphigoid skos:closeMatch Orphanet:454710 Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454710 LEXMATCH -MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023484 LEXMATCH -MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454714 LEXMATCH -MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9373 LEXMATCH -MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018689 LEXMATCH -MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018689 LEXMATCH -MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454714 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103100 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001519 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454718 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5749 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:103100 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018690 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018690 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:103100 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454718 LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:103100 LEXMATCH -MONDO:0018692 variably protease-sensitive prionopathy skos:closeMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454742 LEXMATCH -MONDO:0018692 variably protease-sensitive prionopathy skos:closeMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21894 LEXMATCH -MONDO:0018692 variably protease-sensitive prionopathy skos:closeMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018692 LEXMATCH -MONDO:0018692 variably protease-sensitive prionopathy skos:closeMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018692 LEXMATCH -MONDO:0018692 variably protease-sensitive prionopathy skos:closeMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454742 LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454750 LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21895 LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated tracheoesophageal fistula LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018694 LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018694 LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454750 LEXMATCH -MONDO:0018695 avian influenza skos:closeMatch Orphanet:454836 Avian influenza semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454836 LEXMATCH -MONDO:0018695 avian influenza skos:closeMatch Orphanet:454836 Avian influenza semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21897 LEXMATCH -MONDO:0018695 avian influenza skos:closeMatch Orphanet:454836 Avian influenza semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018695 LEXMATCH -MONDO:0018695 avian influenza skos:closeMatch Orphanet:454836 Avian influenza semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018695 LEXMATCH -MONDO:0018695 avian influenza skos:closeMatch Orphanet:454836 Avian influenza semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454836 LEXMATCH -MONDO:0018696 corticobasal syndrome skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454887 LEXMATCH -MONDO:0018696 corticobasal syndrome skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13168 LEXMATCH -MONDO:0018696 corticobasal syndrome skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018696 LEXMATCH -MONDO:0018696 corticobasal syndrome skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018696 LEXMATCH -MONDO:0018696 corticobasal syndrome skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454887 LEXMATCH -MONDO:0018697 1p35.2 microdeletion syndrome skos:closeMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:456298 LEXMATCH -MONDO:0018697 1p35.2 microdeletion syndrome skos:closeMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21898 LEXMATCH -MONDO:0018697 1p35.2 microdeletion syndrome skos:closeMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018697 LEXMATCH -MONDO:0018697 1p35.2 microdeletion syndrome skos:closeMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018697 LEXMATCH -MONDO:0018697 1p35.2 microdeletion syndrome skos:closeMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:456298 LEXMATCH -MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:closeMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:456333 LEXMATCH -MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:closeMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21899 LEXMATCH -MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:closeMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018698 LEXMATCH -MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:closeMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018698 LEXMATCH -MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:closeMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:456333 LEXMATCH -MONDO:0018701 congenital nemaline myopathy skos:closeMatch Orphanet:457074 Congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21901 LEXMATCH -MONDO:0018701 congenital nemaline myopathy skos:closeMatch Orphanet:457074 Congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018701 LEXMATCH -MONDO:0018701 congenital nemaline myopathy skos:closeMatch Orphanet:457074 Congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018701 LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:closeMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457077 LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:closeMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21902 LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:closeMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018702 LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:closeMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018702 LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:closeMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457077 LEXMATCH -MONDO:0018703 isolated splenogonadal fusion skos:closeMatch Orphanet:457083 Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457083 LEXMATCH -MONDO:0018703 isolated splenogonadal fusion skos:closeMatch Orphanet:457083 Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21903 LEXMATCH -MONDO:0018703 isolated splenogonadal fusion skos:closeMatch Orphanet:457083 Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018703 LEXMATCH -MONDO:0018703 isolated splenogonadal fusion skos:closeMatch Orphanet:457083 Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018703 LEXMATCH -MONDO:0018703 isolated splenogonadal fusion skos:closeMatch Orphanet:457083 Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457083 LEXMATCH -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:closeMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457205 LEXMATCH -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:closeMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21904 LEXMATCH -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:closeMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018705 LEXMATCH -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:closeMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018705 LEXMATCH -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:closeMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457205 LEXMATCH -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457223 LEXMATCH -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17799 LEXMATCH -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018706 LEXMATCH -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018706 LEXMATCH -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457223 LEXMATCH -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457260 LEXMATCH -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12715 LEXMATCH -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018709 LEXMATCH -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018709 LEXMATCH -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457260 LEXMATCH -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457359 LEXMATCH -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17805 LEXMATCH -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018710 LEXMATCH -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018710 LEXMATCH -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457359 LEXMATCH -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:457365 LEXMATCH -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21906 LEXMATCH -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018711 LEXMATCH -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018711 LEXMATCH -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:457365 LEXMATCH -MONDO:0018712 composite hemangioendothelioma skos:closeMatch Orphanet:458758 Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458758 LEXMATCH -MONDO:0018712 composite hemangioendothelioma skos:closeMatch Orphanet:458758 Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21907 LEXMATCH -MONDO:0018712 composite hemangioendothelioma skos:closeMatch Orphanet:458758 Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018712 LEXMATCH -MONDO:0018712 composite hemangioendothelioma skos:closeMatch Orphanet:458758 Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018712 LEXMATCH -MONDO:0018712 composite hemangioendothelioma skos:closeMatch Orphanet:458758 Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458758 LEXMATCH -MONDO:0018713 retiform hemangioendothelioma skos:closeMatch Orphanet:458763 Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458763 LEXMATCH -MONDO:0018713 retiform hemangioendothelioma skos:closeMatch Orphanet:458763 Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21908 LEXMATCH -MONDO:0018713 retiform hemangioendothelioma skos:closeMatch Orphanet:458763 Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018713 LEXMATCH -MONDO:0018713 retiform hemangioendothelioma skos:closeMatch Orphanet:458763 Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018713 LEXMATCH -MONDO:0018713 retiform hemangioendothelioma skos:closeMatch Orphanet:458763 Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458763 LEXMATCH -MONDO:0018714 primary intralymphatic angioendothelioma skos:closeMatch Orphanet:458768 Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458768 LEXMATCH -MONDO:0018714 primary intralymphatic angioendothelioma skos:closeMatch Orphanet:458768 Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21909 LEXMATCH -MONDO:0018714 primary intralymphatic angioendothelioma skos:closeMatch Orphanet:458768 Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018714 LEXMATCH -MONDO:0018714 primary intralymphatic angioendothelioma skos:closeMatch Orphanet:458768 Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018714 LEXMATCH -MONDO:0018714 primary intralymphatic angioendothelioma skos:closeMatch Orphanet:458768 Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458768 LEXMATCH -MONDO:0018715 congenital hemangioma skos:closeMatch Orphanet:458775 Congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21910 LEXMATCH -MONDO:0018715 congenital hemangioma skos:closeMatch Orphanet:458775 Congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018715 LEXMATCH -MONDO:0018715 congenital hemangioma skos:closeMatch Orphanet:458775 Congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018715 LEXMATCH -MONDO:0018716 partially involuting congenital hemangioma skos:closeMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458785 LEXMATCH -MONDO:0018716 partially involuting congenital hemangioma skos:closeMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21911 LEXMATCH -MONDO:0018716 partially involuting congenital hemangioma skos:closeMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018716 LEXMATCH -MONDO:0018716 partially involuting congenital hemangioma skos:closeMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018716 LEXMATCH -MONDO:0018716 partially involuting congenital hemangioma skos:closeMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458785 LEXMATCH -MONDO:0018717 mixed cystic lymphatic malformation skos:closeMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:458792 LEXMATCH -MONDO:0018717 mixed cystic lymphatic malformation skos:closeMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21912 LEXMATCH -MONDO:0018717 mixed cystic lymphatic malformation skos:closeMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018717 LEXMATCH -MONDO:0018717 mixed cystic lymphatic malformation skos:closeMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018717 LEXMATCH -MONDO:0018717 mixed cystic lymphatic malformation skos:closeMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:458792 LEXMATCH -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459070 LEXMATCH -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17815 LEXMATCH -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018724 LEXMATCH -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018724 LEXMATCH -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:459070 LEXMATCH -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:closeMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459074 LEXMATCH -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:closeMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21918 LEXMATCH -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:closeMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018725 LEXMATCH -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:closeMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018725 LEXMATCH -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:closeMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:459074 LEXMATCH -MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21925 LEXMATCH -MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018731 LEXMATCH -MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018731 LEXMATCH -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:closeMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464311 LEXMATCH -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:closeMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21926 LEXMATCH -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:closeMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018733 LEXMATCH -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:closeMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018733 LEXMATCH -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:closeMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464311 LEXMATCH -MONDO:0018734 verrucous hemangioma skos:closeMatch Orphanet:464318 Verrucous hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464318 LEXMATCH -MONDO:0018734 verrucous hemangioma skos:closeMatch Orphanet:464318 Verrucous hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21927 LEXMATCH -MONDO:0018734 verrucous hemangioma skos:closeMatch Orphanet:464318 Verrucous hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018734 LEXMATCH -MONDO:0018734 verrucous hemangioma skos:closeMatch Orphanet:464318 Verrucous hemangioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018734 LEXMATCH -MONDO:0018734 verrucous hemangioma skos:closeMatch Orphanet:464318 Verrucous hemangioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464318 LEXMATCH -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:closeMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464321 LEXMATCH -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:closeMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10467 LEXMATCH -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:closeMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018735 LEXMATCH -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:closeMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018735 LEXMATCH -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:closeMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464321 LEXMATCH -MONDO:0018736 kaposiform lymphangiomatosis skos:closeMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464329 LEXMATCH -MONDO:0018736 kaposiform lymphangiomatosis skos:closeMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13451 LEXMATCH -MONDO:0018736 kaposiform lymphangiomatosis skos:closeMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018736 LEXMATCH -MONDO:0018736 kaposiform lymphangiomatosis skos:closeMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018736 LEXMATCH -MONDO:0018736 kaposiform lymphangiomatosis skos:closeMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464329 LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464343 LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9820 LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018737 LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018737 LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464343 LEXMATCH -MONDO:0018738 benign metanephric tumor skos:closeMatch Orphanet:464359 Benign metanephric tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464359 LEXMATCH -MONDO:0018738 benign metanephric tumor skos:closeMatch Orphanet:464359 Benign metanephric tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21928 LEXMATCH -MONDO:0018738 benign metanephric tumor skos:closeMatch Orphanet:464359 Benign metanephric tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018738 LEXMATCH -MONDO:0018738 benign metanephric tumor skos:closeMatch Orphanet:464359 Benign metanephric tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018738 LEXMATCH -MONDO:0018738 benign metanephric tumor skos:closeMatch Orphanet:464359 Benign metanephric tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464359 LEXMATCH -MONDO:0018739 neonatal alloimmune neutropenia skos:closeMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464370 LEXMATCH -MONDO:0018739 neonatal alloimmune neutropenia skos:closeMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21929 LEXMATCH -MONDO:0018739 neonatal alloimmune neutropenia skos:closeMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018739 LEXMATCH -MONDO:0018739 neonatal alloimmune neutropenia skos:closeMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018739 LEXMATCH -MONDO:0018739 neonatal alloimmune neutropenia skos:closeMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464370 LEXMATCH -MONDO:0018740 drug-induced methemoglobinemia skos:closeMatch Orphanet:464453 Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464453 LEXMATCH -MONDO:0018740 drug-induced methemoglobinemia skos:closeMatch Orphanet:464453 Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21930 LEXMATCH -MONDO:0018740 drug-induced methemoglobinemia skos:closeMatch Orphanet:464453 Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018740 LEXMATCH -MONDO:0018740 drug-induced methemoglobinemia skos:closeMatch Orphanet:464453 Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018740 LEXMATCH -MONDO:0018740 drug-induced methemoglobinemia skos:closeMatch Orphanet:464453 Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464453 LEXMATCH -MONDO:0018741 paracetamol poisoning skos:closeMatch Orphanet:464458 Paracetamol poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464458 LEXMATCH -MONDO:0018741 paracetamol poisoning skos:closeMatch Orphanet:464458 Paracetamol poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21931 LEXMATCH -MONDO:0018741 paracetamol poisoning skos:closeMatch Orphanet:464458 Paracetamol poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018741 LEXMATCH -MONDO:0018741 paracetamol poisoning skos:closeMatch Orphanet:464458 Paracetamol poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018741 LEXMATCH -MONDO:0018741 paracetamol poisoning skos:closeMatch Orphanet:464458 Paracetamol poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464458 LEXMATCH -MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:closeMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:464756 LEXMATCH -MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:closeMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21932 LEXMATCH -MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:closeMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018742 LEXMATCH -MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:closeMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018742 LEXMATCH -MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:closeMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:464756 LEXMATCH -MONDO:0018744 oligodendroglial tumor skos:closeMatch Orphanet:46484 Oligodendroglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46484 LEXMATCH -MONDO:0018744 oligodendroglial tumor skos:closeMatch Orphanet:46484 Oligodendroglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13156 LEXMATCH -MONDO:0018744 oligodendroglial tumor skos:closeMatch Orphanet:46484 Oligodendroglial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018744 LEXMATCH -MONDO:0018744 oligodendroglial tumor skos:closeMatch Orphanet:46484 Oligodendroglial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018744 LEXMATCH -MONDO:0018744 oligodendroglial tumor skos:closeMatch Orphanet:46484 Oligodendroglial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46484 LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057052 LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46486 LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5913 LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018746 LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018746 LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46486 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056508 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079293 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46487 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6360 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018747 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018747 LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46487 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024515 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406650 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46488 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18834 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018748 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018748 LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46488 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:142470 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:613566 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:46532 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18642 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:46532 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:141749 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:142470 LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:613566 LEXMATCH -MONDO:0018751 hereditary otorhinolaryngologic disease skos:closeMatch Orphanet:466084 Genetic otorhinolaryngologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21935 LEXMATCH -MONDO:0018751 hereditary otorhinolaryngologic disease skos:closeMatch Orphanet:466084 Genetic otorhinolaryngologic disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018751 LEXMATCH -MONDO:0018751 hereditary otorhinolaryngologic disease skos:closeMatch Orphanet:466084 Genetic otorhinolaryngologic disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018751 LEXMATCH -MONDO:0018752 exercise-induced malignant hyperthermia skos:closeMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466650 LEXMATCH -MONDO:0018752 exercise-induced malignant hyperthermia skos:closeMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21936 LEXMATCH -MONDO:0018752 exercise-induced malignant hyperthermia skos:closeMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018752 LEXMATCH -MONDO:0018752 exercise-induced malignant hyperthermia skos:closeMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018752 LEXMATCH -MONDO:0018752 exercise-induced malignant hyperthermia skos:closeMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466650 LEXMATCH -MONDO:0018754 cyanide poisoning skos:closeMatch Orphanet:466670 Cyanide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466670 LEXMATCH -MONDO:0018754 cyanide poisoning skos:closeMatch Orphanet:466670 Cyanide poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21938 LEXMATCH -MONDO:0018754 cyanide poisoning skos:closeMatch Orphanet:466670 Cyanide poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018754 LEXMATCH -MONDO:0018754 cyanide poisoning skos:closeMatch Orphanet:466670 Cyanide poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018754 LEXMATCH -MONDO:0018754 cyanide poisoning skos:closeMatch Orphanet:466670 Cyanide poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466670 LEXMATCH -MONDO:0018755 scorpion envenomation skos:closeMatch Orphanet:466677 Scorpion envenomation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466677 LEXMATCH -MONDO:0018755 scorpion envenomation skos:closeMatch Orphanet:466677 Scorpion envenomation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21939 LEXMATCH -MONDO:0018755 scorpion envenomation skos:closeMatch Orphanet:466677 Scorpion envenomation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018755 LEXMATCH -MONDO:0018755 scorpion envenomation skos:closeMatch Orphanet:466677 Scorpion envenomation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018755 LEXMATCH -MONDO:0018755 scorpion envenomation skos:closeMatch Orphanet:466677 Scorpion envenomation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466677 LEXMATCH -MONDO:0018756 euthyroid Graves orbitopathy skos:closeMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466682 LEXMATCH -MONDO:0018756 euthyroid Graves orbitopathy skos:closeMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21940 LEXMATCH -MONDO:0018756 euthyroid Graves orbitopathy skos:closeMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018756 LEXMATCH -MONDO:0018756 euthyroid Graves orbitopathy skos:closeMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018756 LEXMATCH -MONDO:0018756 euthyroid Graves orbitopathy skos:closeMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466682 LEXMATCH -MONDO:0018757 supratip dysplasia skos:closeMatch Orphanet:466695 Supratip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466695 LEXMATCH -MONDO:0018757 supratip dysplasia skos:closeMatch Orphanet:466695 Supratip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21941 LEXMATCH -MONDO:0018757 supratip dysplasia skos:closeMatch Orphanet:466695 Supratip dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018757 LEXMATCH -MONDO:0018757 supratip dysplasia skos:closeMatch Orphanet:466695 Supratip dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018757 LEXMATCH -MONDO:0018757 supratip dysplasia skos:closeMatch Orphanet:466695 Supratip dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466695 LEXMATCH -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:closeMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466921 LEXMATCH -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:closeMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21942 LEXMATCH -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:closeMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018759 LEXMATCH -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:closeMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018759 LEXMATCH -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:closeMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466921 LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466943 LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17838 LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018760 LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018760 LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466943 LEXMATCH -MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:closeMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:466962 LEXMATCH -MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:closeMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21943 LEXMATCH -MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:closeMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018761 LEXMATCH -MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:closeMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018761 LEXMATCH -MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:closeMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:466962 LEXMATCH -MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch Orphanet:467 Non-acquired combined pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2252 LEXMATCH -MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch Orphanet:467 Non-acquired combined pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018762 LEXMATCH -MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch Orphanet:467 Non-acquired combined pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018762 LEXMATCH -MONDO:0018763 tubulinopathy-associated dysgyria skos:closeMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:467166 LEXMATCH -MONDO:0018763 tubulinopathy-associated dysgyria skos:closeMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21944 LEXMATCH -MONDO:0018763 tubulinopathy-associated dysgyria skos:closeMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018763 LEXMATCH -MONDO:0018763 tubulinopathy-associated dysgyria skos:closeMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018763 LEXMATCH -MONDO:0018763 tubulinopathy-associated dysgyria skos:closeMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:467166 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614833 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468631 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17841 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018764 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018764 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614833 LEXMATCH -MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468631 LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4302263 LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468635 LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21945 LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018765 LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018765 LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468635 LEXMATCH -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468641 LEXMATCH -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21946 LEXMATCH -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018766 LEXMATCH -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018766 LEXMATCH -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468641 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602079 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:468726 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6447 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:602079 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018767 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018767 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:602079 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:468726 LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:602079 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064570 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343068 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:47045 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9535 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cold urticaria LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018768 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018768 LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:47045 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023076 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021865 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311386 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:472 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3033 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018769 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018769 LEXMATCH -MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:472 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057621 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:474 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3049 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018770 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018770 LEXMATCH -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:474 LEXMATCH -MONDO:0018772 Joubert syndrome skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:475 LEXMATCH -MONDO:0018772 Joubert syndrome skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6802 LEXMATCH -MONDO:0018772 Joubert syndrome skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018772 LEXMATCH -MONDO:0018772 Joubert syndrome skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018772 LEXMATCH -MONDO:0018772 Joubert syndrome skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:475 LEXMATCH -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476093 LEXMATCH -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21949 LEXMATCH -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018773 LEXMATCH -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018773 LEXMATCH -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476093 LEXMATCH -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome skos:closeMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476096 LEXMATCH -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome skos:closeMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21950 LEXMATCH -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome skos:closeMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018774 LEXMATCH -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome skos:closeMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018774 LEXMATCH -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome skos:closeMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476096 LEXMATCH -MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:closeMatch Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21952 LEXMATCH -MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:closeMatch Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018776 LEXMATCH -MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:closeMatch Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018776 LEXMATCH -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:closeMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476119 LEXMATCH -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:closeMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21953 LEXMATCH -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:closeMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018777 LEXMATCH -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:closeMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018777 LEXMATCH -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:closeMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476119 LEXMATCH -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476123 LEXMATCH -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21954 LEXMATCH -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018778 LEXMATCH -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018778 LEXMATCH -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476123 LEXMATCH -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:closeMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476406 LEXMATCH -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:closeMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21956 LEXMATCH -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:closeMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018780 LEXMATCH -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:closeMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018780 LEXMATCH -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:closeMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476406 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048786 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265336 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3113 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018781 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018781 LEXMATCH -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477 LEXMATCH -MONDO:0018783 fibroblastic rheumatism skos:closeMatch Orphanet:477650 Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477650 LEXMATCH -MONDO:0018783 fibroblastic rheumatism skos:closeMatch Orphanet:477650 Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21958 LEXMATCH -MONDO:0018783 fibroblastic rheumatism skos:closeMatch Orphanet:477650 Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018783 LEXMATCH -MONDO:0018783 fibroblastic rheumatism skos:closeMatch Orphanet:477650 Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018783 LEXMATCH -MONDO:0018783 fibroblastic rheumatism skos:closeMatch Orphanet:477650 Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477650 LEXMATCH -MONDO:0018784 pediatric multiple sclerosis skos:closeMatch Orphanet:477738 Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477738 LEXMATCH -MONDO:0018784 pediatric multiple sclerosis skos:closeMatch Orphanet:477738 Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10443 LEXMATCH -MONDO:0018784 pediatric multiple sclerosis skos:closeMatch Orphanet:477738 Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018784 LEXMATCH -MONDO:0018784 pediatric multiple sclerosis skos:closeMatch Orphanet:477738 Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018784 LEXMATCH -MONDO:0018784 pediatric multiple sclerosis skos:closeMatch Orphanet:477738 Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477738 LEXMATCH -MONDO:0018793 primary condylar hyperplasia skos:closeMatch Orphanet:477781 Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477781 LEXMATCH -MONDO:0018793 primary condylar hyperplasia skos:closeMatch Orphanet:477781 Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21966 LEXMATCH -MONDO:0018793 primary condylar hyperplasia skos:closeMatch Orphanet:477781 Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018793 LEXMATCH -MONDO:0018793 primary condylar hyperplasia skos:closeMatch Orphanet:477781 Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018793 LEXMATCH -MONDO:0018793 primary condylar hyperplasia skos:closeMatch Orphanet:477781 Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477781 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618372 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477787 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17857 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018794 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018794 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618372 LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477787 LEXMATCH -MONDO:0018795 syndromic constitutional thrombocytopenia skos:closeMatch Orphanet:477794 Syndromic constitutional thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21967 LEXMATCH -MONDO:0018795 syndromic constitutional thrombocytopenia skos:closeMatch Orphanet:477794 Syndromic constitutional thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018795 LEXMATCH -MONDO:0018795 syndromic constitutional thrombocytopenia skos:closeMatch Orphanet:477794 Syndromic constitutional thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018795 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053142 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:478 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10771 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018800 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018800 LEXMATCH -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:478 LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010670 LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48 LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5461 LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018801 LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018801 LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48 LEXMATCH -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480491 LEXMATCH -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21972 LEXMATCH -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018804 LEXMATCH -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018804 LEXMATCH -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480491 LEXMATCH -MONDO:0018805 bile duct cyst skos:closeMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480501 LEXMATCH -MONDO:0018805 bile duct cyst skos:closeMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21973 LEXMATCH -MONDO:0018805 bile duct cyst skos:closeMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018805 LEXMATCH -MONDO:0018805 bile duct cyst skos:closeMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018805 LEXMATCH -MONDO:0018805 bile duct cyst skos:closeMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480501 LEXMATCH -MONDO:0018806 primary intrahepatic lithiasis skos:closeMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480506 LEXMATCH -MONDO:0018806 primary intrahepatic lithiasis skos:closeMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21974 LEXMATCH -MONDO:0018806 primary intrahepatic lithiasis skos:closeMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018806 LEXMATCH -MONDO:0018806 primary intrahepatic lithiasis skos:closeMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018806 LEXMATCH -MONDO:0018806 primary intrahepatic lithiasis skos:closeMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480506 LEXMATCH -MONDO:0018807 idiopathic ductopenia skos:closeMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480512 LEXMATCH -MONDO:0018807 idiopathic ductopenia skos:closeMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21975 LEXMATCH -MONDO:0018807 idiopathic ductopenia skos:closeMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018807 LEXMATCH -MONDO:0018807 idiopathic ductopenia skos:closeMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018807 LEXMATCH -MONDO:0018807 idiopathic ductopenia skos:closeMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480512 LEXMATCH -MONDO:0018808 Caroli syndrome skos:closeMatch Orphanet:480520 Caroli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480520 LEXMATCH -MONDO:0018808 Caroli syndrome skos:closeMatch Orphanet:480520 Caroli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21976 LEXMATCH -MONDO:0018808 Caroli syndrome skos:closeMatch Orphanet:480520 Caroli syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018808 LEXMATCH -MONDO:0018808 Caroli syndrome skos:closeMatch Orphanet:480520 Caroli syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018808 LEXMATCH -MONDO:0018808 Caroli syndrome skos:closeMatch Orphanet:480520 Caroli syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480520 LEXMATCH -MONDO:0018809 idiopathic peliosis hepatis skos:closeMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480524 LEXMATCH -MONDO:0018809 idiopathic peliosis hepatis skos:closeMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21977 LEXMATCH -MONDO:0018809 idiopathic peliosis hepatis skos:closeMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018809 LEXMATCH -MONDO:0018809 idiopathic peliosis hepatis skos:closeMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018809 LEXMATCH -MONDO:0018809 idiopathic peliosis hepatis skos:closeMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480524 LEXMATCH -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:closeMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480528 LEXMATCH -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:closeMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21978 LEXMATCH -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:closeMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018810 LEXMATCH -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:closeMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018810 LEXMATCH -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:closeMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480528 LEXMATCH -MONDO:0018811 congenital portosystemic shunt skos:closeMatch Orphanet:480531 Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480531 LEXMATCH -MONDO:0018811 congenital portosystemic shunt skos:closeMatch Orphanet:480531 Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21979 LEXMATCH -MONDO:0018811 congenital portosystemic shunt skos:closeMatch Orphanet:480531 Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018811 LEXMATCH -MONDO:0018811 congenital portosystemic shunt skos:closeMatch Orphanet:480531 Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018811 LEXMATCH -MONDO:0018811 congenital portosystemic shunt skos:closeMatch Orphanet:480531 Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480531 LEXMATCH -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480536 LEXMATCH -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17868 LEXMATCH -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018812 LEXMATCH -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018812 LEXMATCH -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480536 LEXMATCH -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:closeMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480541 LEXMATCH -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:closeMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21980 LEXMATCH -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:closeMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018813 LEXMATCH -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:closeMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018813 LEXMATCH -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:closeMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480541 LEXMATCH -MONDO:0018814 non-SCID combined immunodeficiency skos:closeMatch Orphanet:480549 Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21981 LEXMATCH -MONDO:0018814 non-SCID combined immunodeficiency skos:closeMatch Orphanet:480549 Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018814 LEXMATCH -MONDO:0018814 non-SCID combined immunodeficiency skos:closeMatch Orphanet:480549 Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018814 LEXMATCH -MONDO:0018815 aneurysmal bone cyst skos:closeMatch Orphanet:480553 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480553 LEXMATCH -MONDO:0018815 aneurysmal bone cyst skos:closeMatch Orphanet:480553 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21982 LEXMATCH -MONDO:0018815 aneurysmal bone cyst skos:closeMatch Orphanet:480553 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018815 LEXMATCH -MONDO:0018815 aneurysmal bone cyst skos:closeMatch Orphanet:480553 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018815 LEXMATCH -MONDO:0018815 aneurysmal bone cyst skos:closeMatch Orphanet:480553 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480553 LEXMATCH -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480556 LEXMATCH -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21983 LEXMATCH -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018816 LEXMATCH -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018816 LEXMATCH -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480556 LEXMATCH -MONDO:0018818 facial diplegia with paresthesias skos:closeMatch Orphanet:480701 Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480701 LEXMATCH -MONDO:0018818 facial diplegia with paresthesias skos:closeMatch Orphanet:480701 Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21984 LEXMATCH -MONDO:0018818 facial diplegia with paresthesias skos:closeMatch Orphanet:480701 Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018818 LEXMATCH -MONDO:0018818 facial diplegia with paresthesias skos:closeMatch Orphanet:480701 Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018818 LEXMATCH -MONDO:0018818 facial diplegia with paresthesias skos:closeMatch Orphanet:480701 Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480701 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480864 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13423 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018820 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018820 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616878 LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480864 LEXMATCH -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480880 LEXMATCH -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13638 LEXMATCH -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018821 LEXMATCH -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018821 LEXMATCH -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480880 LEXMATCH -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480898 LEXMATCH -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17871 LEXMATCH -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018822 LEXMATCH -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018822 LEXMATCH -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480898 LEXMATCH -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480907 LEXMATCH -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17872 LEXMATCH -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018823 LEXMATCH -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018823 LEXMATCH -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:480907 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037635 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48104 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7510 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018824 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018824 LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48104 LEXMATCH -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:481152 LEXMATCH -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17873 LEXMATCH -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018825 LEXMATCH -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018825 LEXMATCH -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:481152 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065580 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1695985 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48162 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13070 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018826 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018826 LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48162 LEXMATCH -MONDO:0018827 familial chilblain lupus skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:481662 LEXMATCH -MONDO:0018827 familial chilblain lupus skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17874 LEXMATCH -MONDO:0018827 familial chilblain lupus skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018827 LEXMATCH -MONDO:0018827 familial chilblain lupus skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018827 LEXMATCH -MONDO:0018827 familial chilblain lupus skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:481662 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617397 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:481665 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17875 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617397 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label usp18 deficiency LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018828 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018828 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617397 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:481665 LEXMATCH -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617397 LEXMATCH -MONDO:0018829 familial schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:481986 LEXMATCH -MONDO:0018829 familial schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17876 LEXMATCH -MONDO:0018829 familial schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018829 LEXMATCH -MONDO:0018829 familial schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018829 LEXMATCH -MONDO:0018829 familial schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:481986 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048640 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033838 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:482 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6835 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018830 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018830 LEXMATCH -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:482 LEXMATCH -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:482077 LEXMATCH -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17877 LEXMATCH -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018832 LEXMATCH -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018832 LEXMATCH -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:closeMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:482077 LEXMATCH -MONDO:0018835 nodular regenerative hyperplasia of the liver skos:closeMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48372 LEXMATCH -MONDO:0018835 nodular regenerative hyperplasia of the liver skos:closeMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10929 LEXMATCH -MONDO:0018835 nodular regenerative hyperplasia of the liver skos:closeMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018835 LEXMATCH -MONDO:0018835 nodular regenerative hyperplasia of the liver skos:closeMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018835 LEXMATCH -MONDO:0018835 nodular regenerative hyperplasia of the liver skos:closeMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48372 LEXMATCH -MONDO:0018837 postinfectious vasculitis skos:closeMatch Orphanet:48435 Postinfectious vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48435 LEXMATCH -MONDO:0018837 postinfectious vasculitis skos:closeMatch Orphanet:48435 Postinfectious vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18835 LEXMATCH -MONDO:0018837 postinfectious vasculitis skos:closeMatch Orphanet:48435 Postinfectious vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018837 LEXMATCH -MONDO:0018837 postinfectious vasculitis skos:closeMatch Orphanet:48435 Postinfectious vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018837 LEXMATCH -MONDO:0018837 postinfectious vasculitis skos:closeMatch Orphanet:48435 Postinfectious vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48435 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048911 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266463 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48471 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12291 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018838 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018838 LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48471 LEXMATCH -MONDO:0018839 acquired schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485275 LEXMATCH -MONDO:0018839 acquired schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17879 LEXMATCH -MONDO:0018839 acquired schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018839 LEXMATCH -MONDO:0018839 acquired schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018839 LEXMATCH -MONDO:0018839 acquired schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485275 LEXMATCH -MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485426 LEXMATCH -MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21995 LEXMATCH -MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018840 LEXMATCH -MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018840 LEXMATCH -MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485426 LEXMATCH -MONDO:0018841 congenital bile acid synthesis defect skos:closeMatch Orphanet:485631 Congenital bile acid synthesis defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21996 LEXMATCH -MONDO:0018841 congenital bile acid synthesis defect skos:closeMatch Orphanet:485631 Congenital bile acid synthesis defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018841 LEXMATCH -MONDO:0018841 congenital bile acid synthesis defect skos:closeMatch Orphanet:485631 Congenital bile acid synthesis defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018841 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065857 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292753 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48686 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9247 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018842 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018842 LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48686 LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48736 LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18836 LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018843 LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018843 LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48736 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065375 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5425 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018844 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018844 LEXMATCH -MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488 LEXMATCH -MONDO:0018845 focal myositis skos:closeMatch Orphanet:48918 Focal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:48918 LEXMATCH -MONDO:0018845 focal myositis skos:closeMatch Orphanet:48918 Focal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18837 LEXMATCH -MONDO:0018845 focal myositis skos:closeMatch Orphanet:48918 Focal myositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018845 LEXMATCH -MONDO:0018845 focal myositis skos:closeMatch Orphanet:48918 Focal myositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018845 LEXMATCH -MONDO:0018845 focal myositis skos:closeMatch Orphanet:48918 Focal myositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:48918 LEXMATCH -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 LEXMATCH -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49 LEXMATCH -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4272 LEXMATCH -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018846 LEXMATCH -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018846 LEXMATCH -MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49 LEXMATCH -MONDO:0018847 omphalomesenteric cyst skos:closeMatch Orphanet:490 Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:490 LEXMATCH -MONDO:0018847 omphalomesenteric cyst skos:closeMatch Orphanet:490 Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4081 LEXMATCH -MONDO:0018847 omphalomesenteric cyst skos:closeMatch Orphanet:490 Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018847 LEXMATCH -MONDO:0018847 omphalomesenteric cyst skos:closeMatch Orphanet:490 Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018847 LEXMATCH -MONDO:0018847 omphalomesenteric cyst skos:closeMatch Orphanet:490 Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:490 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49041 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9568 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018848 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018848 LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49041 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054013 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49042 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6258 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018849 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018849 LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49042 LEXMATCH -MONDO:0018850 proliferating trichilemmal cyst skos:closeMatch Orphanet:492 Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:492 LEXMATCH -MONDO:0018850 proliferating trichilemmal cyst skos:closeMatch Orphanet:492 Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4509 LEXMATCH -MONDO:0018850 proliferating trichilemmal cyst skos:closeMatch Orphanet:492 Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018850 LEXMATCH -MONDO:0018850 proliferating trichilemmal cyst skos:closeMatch Orphanet:492 Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018850 LEXMATCH -MONDO:0018850 proliferating trichilemmal cyst skos:closeMatch Orphanet:492 Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:492 LEXMATCH -MONDO:0018851 familial keratoacanthoma skos:closeMatch Orphanet:493 Familial keratoacanthoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:493 LEXMATCH -MONDO:0018851 familial keratoacanthoma skos:closeMatch Orphanet:493 Familial keratoacanthoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18693 LEXMATCH -MONDO:0018851 familial keratoacanthoma skos:closeMatch Orphanet:493 Familial keratoacanthoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018851 LEXMATCH -MONDO:0018851 familial keratoacanthoma skos:closeMatch Orphanet:493 Familial keratoacanthoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018851 LEXMATCH -MONDO:0018851 familial keratoacanthoma skos:closeMatch Orphanet:493 Familial keratoacanthoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:493 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000454 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152200 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49382 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15015 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018852 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018852 LEXMATCH -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49382 LEXMATCH -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495 LEXMATCH -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3096 LEXMATCH -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018853 LEXMATCH -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018853 LEXMATCH -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037556 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49566 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18838 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018854 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018854 LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49566 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604093 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604093 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:498 Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:498 Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18694 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:498 Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018855 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:498 Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018855 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:498 Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604093 LEXMATCH -MONDO:0018856 lichen amyloidosis skos:closeMatch Orphanet:49804 Lichen amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:49804 LEXMATCH -MONDO:0018856 lichen amyloidosis skos:closeMatch Orphanet:49804 Lichen amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18839 LEXMATCH -MONDO:0018856 lichen amyloidosis skos:closeMatch Orphanet:49804 Lichen amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018856 LEXMATCH -MONDO:0018856 lichen amyloidosis skos:closeMatch Orphanet:49804 Lichen amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018856 LEXMATCH -MONDO:0018856 lichen amyloidosis skos:closeMatch Orphanet:49804 Lichen amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:49804 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059547 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562462 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:504 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1609 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018857 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018857 LEXMATCH -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:504 LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505 LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3195 LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018858 LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018858 LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505 LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 LEXMATCH -MONDO:0018860 microlissencephaly-micromelia syndrome skos:closeMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50810 LEXMATCH -MONDO:0018860 microlissencephaly-micromelia syndrome skos:closeMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18840 LEXMATCH -MONDO:0018860 microlissencephaly-micromelia syndrome skos:closeMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018860 LEXMATCH -MONDO:0018860 microlissencephaly-micromelia syndrome skos:closeMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018860 LEXMATCH -MONDO:0018860 microlissencephaly-micromelia syndrome skos:closeMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50810 LEXMATCH -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:closeMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50812 LEXMATCH -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:closeMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18841 LEXMATCH -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:closeMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018861 LEXMATCH -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:closeMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018861 LEXMATCH -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:closeMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50812 LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398367 LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50918 LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6834 LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018864 LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018864 LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50918 LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50942 LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15016 LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018865 LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018865 LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50942 LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51 LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:575 LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aicardi-goutières syndrome LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018866 LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018866 LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067609 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023522 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:512 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3230 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018868 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018868 LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:512 LEXMATCH -MONDO:0018869 cobblestone lissencephaly skos:closeMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51577 LEXMATCH -MONDO:0018869 cobblestone lissencephaly skos:closeMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3277 LEXMATCH -MONDO:0018869 cobblestone lissencephaly skos:closeMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018869 LEXMATCH -MONDO:0018869 cobblestone lissencephaly skos:closeMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018869 LEXMATCH -MONDO:0018869 cobblestone lissencephaly skos:closeMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51577 LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51608 LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8380 LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018870 LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018870 LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51608 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000890 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:517 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:529 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018871 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018871 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:517 LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023462 LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:518 LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:524 LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018872 LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018872 LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:518 LEXMATCH -MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:closeMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51890 LEXMATCH -MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:closeMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18843 LEXMATCH -MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:closeMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018873 LEXMATCH -MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:closeMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018873 LEXMATCH -MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:closeMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51890 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000880 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12757 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018874 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018874 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601626 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:601626 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066795 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085390 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:524 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6902 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018875 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018875 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151623 LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:524 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061275 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52416 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6969 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018876 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018876 LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52416 LEXMATCH -MONDO:0018877 retinitis punctata albescens skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52427 LEXMATCH -MONDO:0018877 retinitis punctata albescens skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16655 LEXMATCH -MONDO:0018877 retinitis punctata albescens skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018877 LEXMATCH -MONDO:0018877 retinitis punctata albescens skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018877 LEXMATCH -MONDO:0018877 retinitis punctata albescens skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52427 LEXMATCH -MONDO:0018878 branchiootic syndrome skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52429 LEXMATCH -MONDO:0018878 branchiootic syndrome skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10148 LEXMATCH -MONDO:0018878 branchiootic syndrome skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018878 LEXMATCH -MONDO:0018878 branchiootic syndrome skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018878 LEXMATCH -MONDO:0018878 branchiootic syndrome skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52429 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:525 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3247 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018879 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018879 LEXMATCH -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:525 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614286 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463824 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52688 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7132 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614286 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018881 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018881 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614286 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52688 LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614286 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:280369 Rare pediatric vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018882 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:280369 Rare pediatric vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0018882 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036023 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042384 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52759 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18844 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic vasculitis LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018882 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018882 LEXMATCH -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52759 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024603 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:528 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13388 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized lipodystrophy LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018883 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018883 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:528 LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lawrence-seip syndrome LEXMATCH -MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:closeMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529 LEXMATCH -MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:closeMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4733 LEXMATCH -MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:closeMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018884 LEXMATCH -MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:closeMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018884 LEXMATCH -MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:closeMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529 LEXMATCH -MONDO:0018885 orbital leiomyoma skos:closeMatch Orphanet:52994 Orbital leiomyoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:52994 LEXMATCH -MONDO:0018885 orbital leiomyoma skos:closeMatch Orphanet:52994 Orbital leiomyoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18845 LEXMATCH -MONDO:0018885 orbital leiomyoma skos:closeMatch Orphanet:52994 Orbital leiomyoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018885 LEXMATCH -MONDO:0018885 orbital leiomyoma skos:closeMatch Orphanet:52994 Orbital leiomyoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018885 LEXMATCH -MONDO:0018885 orbital leiomyoma skos:closeMatch Orphanet:52994 Orbital leiomyoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:52994 LEXMATCH -MONDO:0018889 hyaline body myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53698 LEXMATCH -MONDO:0018889 hyaline body myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7148 LEXMATCH -MONDO:0018889 hyaline body myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018889 LEXMATCH -MONDO:0018889 hyaline body myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018889 LEXMATCH -MONDO:0018889 hyaline body myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53698 LEXMATCH -MONDO:0018890 Lyell syndrome skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:537 LEXMATCH -MONDO:0018890 Lyell syndrome skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18696 LEXMATCH -MONDO:0018890 Lyell syndrome skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018890 LEXMATCH -MONDO:0018890 Lyell syndrome skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018890 LEXMATCH -MONDO:0018890 Lyell syndrome skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:537 LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059364 LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53715 LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10877 LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018891 LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018891 LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53715 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048661 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53719 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7900 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018892 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018892 LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53719 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068841 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346068 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53721 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11892 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018893 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018893 LEXMATCH -MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53721 LEXMATCH -MONDO:0018894 distal hereditary motor neuropathy skos:closeMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53739 LEXMATCH -MONDO:0018894 distal hereditary motor neuropathy skos:closeMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12683 LEXMATCH -MONDO:0018894 distal hereditary motor neuropathy skos:closeMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018894 LEXMATCH -MONDO:0018894 distal hereditary motor neuropathy skos:closeMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018894 LEXMATCH -MONDO:0018894 distal hereditary motor neuropathy skos:closeMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53739 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040664 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54028 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8259 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018895 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018895 LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54028 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043648 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034155 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54057 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16659 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018896 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018896 LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54057 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:541 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18697 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018897 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018897 LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:541 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051708 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302772 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18698 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018898 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018898 LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542 LEXMATCH -MONDO:0018899 posterior cortical atrophy skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54247 LEXMATCH -MONDO:0018899 posterior cortical atrophy skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18846 LEXMATCH -MONDO:0018899 posterior cortical atrophy skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018899 LEXMATCH -MONDO:0018899 posterior cortical atrophy skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018899 LEXMATCH -MONDO:0018899 posterior cortical atrophy skos:closeMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54247 LEXMATCH -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:closeMatch Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54251 LEXMATCH -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:closeMatch Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10946 LEXMATCH -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:closeMatch Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018900 LEXMATCH -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:closeMatch Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018900 LEXMATCH -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:closeMatch Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54251 LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960469 LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54260 LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10985 LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018901 LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018901 LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54260 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019827 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206669 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54272 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18847 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018902 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018902 LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54272 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039483 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036231 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54368 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18848 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018903 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018903 LEXMATCH -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54368 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018370 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54370 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11982 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018904 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018904 LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54370 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012818 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079744 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3178 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018905 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018905 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024301 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:545 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2356 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018906 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018906 LEXMATCH -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:545 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011318 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010276 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54595 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10486 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018907 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018907 LEXMATCH -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54595 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:547 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11953 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018908 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018908 LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:547 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078918 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10958 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018910 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018910 LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606391 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342276 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:552 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15392 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3697 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018911 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018911 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606391 LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:552 LEXMATCH -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 LEXMATCH -MONDO:0018913 malakoplakia skos:closeMatch Orphanet:556 Malakoplakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:556 LEXMATCH -MONDO:0018913 malakoplakia skos:closeMatch Orphanet:556 Malakoplakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6960 LEXMATCH -MONDO:0018913 malakoplakia skos:closeMatch Orphanet:556 Malakoplakia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018913 LEXMATCH -MONDO:0018913 malakoplakia skos:closeMatch Orphanet:556 Malakoplakia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018913 LEXMATCH -MONDO:0018913 malakoplakia skos:closeMatch Orphanet:556 Malakoplakia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:556 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854310 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:55654 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9170 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary hypotrichosis simplex LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018914 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018914 LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:55654 LEXMATCH -MONDO:0018916 isolated anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:557 LEXMATCH -MONDO:0018916 isolated anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16534 LEXMATCH -MONDO:0018916 isolated anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018916 LEXMATCH -MONDO:0018916 isolated anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018916 LEXMATCH -MONDO:0018916 isolated anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:557 LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007426 LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:56044 LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18850 LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018918 LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018918 LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:56044 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242292 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6995 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018919 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018919 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174800 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016065 LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049430 LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563 LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:220 LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018920 LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018920 LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563 LEXMATCH -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265215 LEXMATCH -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:564 LEXMATCH -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3436 LEXMATCH -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018921 LEXMATCH -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018921 LEXMATCH -MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:564 LEXMATCH -MONDO:0018922 cold agglutinin disease skos:closeMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:56425 LEXMATCH -MONDO:0018922 cold agglutinin disease skos:closeMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6130 LEXMATCH -MONDO:0018922 cold agglutinin disease skos:closeMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018922 LEXMATCH -MONDO:0018922 cold agglutinin disease skos:closeMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018922 LEXMATCH -MONDO:0018922 cold agglutinin disease skos:closeMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:56425 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012979 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066430 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10299 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018923 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018923 LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:568 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:87 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018924 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018924 LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:568 LEXMATCH -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569 LEXMATCH -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10768 LEXMATCH -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018925 LEXMATCH -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018925 LEXMATCH -MONDO:0018925 familial or sporadic hemiplegic migraine skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569 LEXMATCH -MONDO:0018926 human prion disease skos:closeMatch Orphanet:56970 Human prion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:56970 LEXMATCH -MONDO:0018926 human prion disease skos:closeMatch Orphanet:56970 Human prion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18851 LEXMATCH -MONDO:0018926 human prion disease skos:closeMatch Orphanet:56970 Human prion disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018926 LEXMATCH -MONDO:0018926 human prion disease skos:closeMatch Orphanet:56970 Human prion disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018926 LEXMATCH -MONDO:0018926 human prion disease skos:closeMatch Orphanet:56970 Human prion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:56970 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061981 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262087 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:57145 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9257 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018927 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018927 LEXMATCH -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:57145 LEXMATCH -MONDO:0018929 medial condensing osteitis of the clavicle skos:closeMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:57196 LEXMATCH -MONDO:0018929 medial condensing osteitis of the clavicle skos:closeMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10910 LEXMATCH -MONDO:0018929 medial condensing osteitis of the clavicle skos:closeMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018929 LEXMATCH -MONDO:0018929 medial condensing osteitis of the clavicle skos:closeMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018929 LEXMATCH -MONDO:0018929 medial condensing osteitis of the clavicle skos:closeMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:57196 LEXMATCH -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795875 LEXMATCH -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:574 LEXMATCH -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10860 LEXMATCH -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018930 LEXMATCH -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018930 LEXMATCH -MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:574 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:423461 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17704 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml 3 alpha/beta LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018931 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018931 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252600 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:423461 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:577 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3806 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018931 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018931 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252600 LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:577 LEXMATCH -MONDO:0018932 cirrhotic cardiomyopathy skos:closeMatch Orphanet:57777 Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:57777 LEXMATCH -MONDO:0018932 cirrhotic cardiomyopathy skos:closeMatch Orphanet:57777 Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18852 LEXMATCH -MONDO:0018932 cirrhotic cardiomyopathy skos:closeMatch Orphanet:57777 Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018932 LEXMATCH -MONDO:0018932 cirrhotic cardiomyopathy skos:closeMatch Orphanet:57777 Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018932 LEXMATCH -MONDO:0018932 cirrhotic cardiomyopathy skos:closeMatch Orphanet:57777 Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:57777 LEXMATCH -MONDO:0018933 Mazabraud syndrome skos:closeMatch Orphanet:57782 Mazabraud syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:57782 LEXMATCH -MONDO:0018933 Mazabraud syndrome skos:closeMatch Orphanet:57782 Mazabraud syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18853 LEXMATCH -MONDO:0018933 Mazabraud syndrome skos:closeMatch Orphanet:57782 Mazabraud syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018933 LEXMATCH -MONDO:0018933 Mazabraud syndrome skos:closeMatch Orphanet:57782 Mazabraud syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018933 LEXMATCH -MONDO:0018933 Mazabraud syndrome skos:closeMatch Orphanet:57782 Mazabraud syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:57782 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019053 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023443 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:58017 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6560 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic hairy cell leukemia LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018935 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018935 LEXMATCH -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:58017 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004430 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029417 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:58040 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18854 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018936 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018936 LEXMATCH -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:58040 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056890 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:581 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3807 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018937 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018937 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:581 LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type ivb LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028095 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:582 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12562 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018938 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018938 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:582 LEXMATCH -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:588 LEXMATCH -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:156 LEXMATCH -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018939 LEXMATCH -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018939 LEXMATCH -MONDO:0018939 muscle-eye-brain disease skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:588 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751882 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:590 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11902 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018940 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018940 LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:590 LEXMATCH -MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931766 LEXMATCH -MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:591 LEXMATCH -MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2418 LEXMATCH -MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018941 LEXMATCH -MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018941 LEXMATCH -MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:591 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931639 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:176 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018942 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018942 LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592 LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678065 LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:593 LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10529 LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018943 LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018943 LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:593 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061988 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59305 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6498 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018944 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018944 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59305 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59306 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10731 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018945 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018945 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300842 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59306 LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866130 LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:59315 LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18855 LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018946 LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018946 LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:59315 LEXMATCH -MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175709 LEXMATCH -MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:595 LEXMATCH -MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:101 LEXMATCH -MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018947 LEXMATCH -MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018947 LEXMATCH -MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:595 LEXMATCH -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270962 LEXMATCH -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:598 LEXMATCH -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16536 LEXMATCH -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018948 LEXMATCH -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018948 LEXMATCH -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:598 LEXMATCH -MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751336 LEXMATCH -MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599 LEXMATCH -MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18699 LEXMATCH -MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018949 LEXMATCH -MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018949 LEXMATCH -MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599 LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268600 LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:6 LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10954 LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018950 LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018950 LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:6 LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600 LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1887 LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord and pharyngeal distal myopathy LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018951 LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018951 LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003094 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60014 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18856 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018952 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018952 LEXMATCH -MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60014 LEXMATCH -MONDO:0018953 parietal foramina skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60015 LEXMATCH -MONDO:0018953 parietal foramina skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16662 LEXMATCH -MONDO:0018953 parietal foramina skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018953 LEXMATCH -MONDO:0018953 parietal foramina skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018953 LEXMATCH -MONDO:0018953 parietal foramina skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60015 LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2697932 LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60030 LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10788 LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018954 LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018954 LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60030 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059314 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168198 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60032 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:111 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018955 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018955 LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60032 LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339985 LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60033 LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16664 LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018956 LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018956 LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60033 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997249 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:60039 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10713 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018957 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018957 LEXMATCH -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:60039 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206157 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:607 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12033 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018958 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018958 LEXMATCH -MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:607 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931826 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:612 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4459 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018959 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018959 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:612 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608390 LEXMATCH -MONDO:0018960 congenital primary megaureter skos:closeMatch Orphanet:617 Congenital primary megaureter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617 LEXMATCH -MONDO:0018960 congenital primary megaureter skos:closeMatch Orphanet:617 Congenital primary megaureter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18700 LEXMATCH -MONDO:0018960 congenital primary megaureter skos:closeMatch Orphanet:617 Congenital primary megaureter semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018960 LEXMATCH -MONDO:0018960 congenital primary megaureter skos:closeMatch Orphanet:617 Congenital primary megaureter semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018960 LEXMATCH -MONDO:0018960 congenital primary megaureter skos:closeMatch Orphanet:617 Congenital primary megaureter semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:618 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3460 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018961 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018961 LEXMATCH -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:618 LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272087 LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:621 LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2659 LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018963 LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018963 LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:621 LEXMATCH -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:622 LEXMATCH -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16537 LEXMATCH -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018964 LEXMATCH -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018964 LEXMATCH -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:622 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1567741 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5785 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018965 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018965 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 LEXMATCH -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:632 LEXMATCH -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16538 LEXMATCH -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018967 LEXMATCH -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018967 LEXMATCH -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:632 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022034 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152234 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63259 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10506 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018968 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018968 LEXMATCH -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63259 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011321 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152426 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63260 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10504 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018969 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018969 LEXMATCH -MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63260 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868569 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63454 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9821 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018973 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018973 LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63454 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057056 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112570 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63455 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18858 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018974 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018974 LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63455 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047712 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027831 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7866 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disease LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018975 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018975 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:162200 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931271 LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63862 LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:246 LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018976 LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018976 LEXMATCH -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63862 LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1736154 LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:639 LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13173 LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018977 LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018977 LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:639 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027074 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536136 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:63999 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8337 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018978 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018978 LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:63999 LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393847 LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:641 LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11011 LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018979 LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018979 LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:641 LEXMATCH -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:closeMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64542 LEXMATCH -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:closeMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18859 LEXMATCH -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:closeMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018980 LEXMATCH -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:closeMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018980 LEXMATCH -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:closeMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64542 LEXMATCH -MONDO:0018981 benign idiopathic neonatal seizures skos:closeMatch Orphanet:64545 Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64545 LEXMATCH -MONDO:0018981 benign idiopathic neonatal seizures skos:closeMatch Orphanet:64545 Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18860 LEXMATCH -MONDO:0018981 benign idiopathic neonatal seizures skos:closeMatch Orphanet:64545 Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018981 LEXMATCH -MONDO:0018981 benign idiopathic neonatal seizures skos:closeMatch Orphanet:64545 Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018981 LEXMATCH -MONDO:0018981 benign idiopathic neonatal seizures skos:closeMatch Orphanet:64545 Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64545 LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:646 LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7207 LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018982 LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018982 LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:646 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051526 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040381 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64686 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7777 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018983 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018983 LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64686 LEXMATCH -MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029307 LEXMATCH -MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64692 LEXMATCH -MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18861 LEXMATCH -MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018984 LEXMATCH -MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018984 LEXMATCH -MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64692 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0405469 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64722 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18863 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018987 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018987 LEXMATCH -MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64722 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053678 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64734 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:60 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018988 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018988 LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64734 LEXMATCH -MONDO:0018991 hepatoportal sclerosis skos:closeMatch Orphanet:64743 Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64743 LEXMATCH -MONDO:0018991 hepatoportal sclerosis skos:closeMatch Orphanet:64743 Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18865 LEXMATCH -MONDO:0018991 hepatoportal sclerosis skos:closeMatch Orphanet:64743 Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018991 LEXMATCH -MONDO:0018991 hepatoportal sclerosis skos:closeMatch Orphanet:64743 Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018991 LEXMATCH -MONDO:0018991 hepatoportal sclerosis skos:closeMatch Orphanet:64743 Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64743 LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039142 LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64744 LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18866 LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018992 LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018992 LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64744 LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64746 LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12431 LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2 LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018993 LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018993 LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64746 LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64747 LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12444 LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked charcot-marie-tooth disease LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018994 LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018994 LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64747 LEXMATCH -MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:closeMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64749 LEXMATCH -MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:closeMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12440 LEXMATCH -MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:closeMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018995 LEXMATCH -MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:closeMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018995 LEXMATCH -MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:closeMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64749 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606002 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:64753 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15389 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12860 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018996 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018996 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606002 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:64753 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029748 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:648 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10955 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018997 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018997 LEXMATCH -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:648 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339527 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:634 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018998 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018998 LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65 LEXMATCH -MONDO:0018999 LCAT deficiency skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:650 LEXMATCH -MONDO:0018999 LCAT deficiency skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16539 LEXMATCH -MONDO:0018999 LCAT deficiency skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0018999 LEXMATCH -MONDO:0018999 LCAT deficiency skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0018999 LEXMATCH -MONDO:0018999 LCAT deficiency skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:650 LEXMATCH -MONDO:0019000 perineural cyst skos:closeMatch Orphanet:65250 Perineural cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65250 LEXMATCH -MONDO:0019000 perineural cyst skos:closeMatch Orphanet:65250 Perineural cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9258 LEXMATCH -MONDO:0019000 perineural cyst skos:closeMatch Orphanet:65250 Perineural cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019000 LEXMATCH -MONDO:0019000 perineural cyst skos:closeMatch Orphanet:65250 Perineural cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019000 LEXMATCH -MONDO:0019000 perineural cyst skos:closeMatch Orphanet:65250 Perineural cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65250 LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65285 LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6901 LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019002 LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019002 LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65285 LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028191 LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:653 LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3830 LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019003 LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019003 LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:653 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029145 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027708 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:654 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7892 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019004 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019004 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:654 LEXMATCH -MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0687120 LEXMATCH -MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:655 LEXMATCH -MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:206 LEXMATCH -MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019005 LEXMATCH -MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019005 LEXMATCH -MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:655 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868672 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:656 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3946 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019006 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019006 LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:656 LEXMATCH -MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046879 LEXMATCH -MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65681 LEXMATCH -MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18867 LEXMATCH -MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019007 LEXMATCH -MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019007 LEXMATCH -MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65681 LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149841 LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65682 LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12185 LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019008 LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019008 LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65682 LEXMATCH -MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65683 LEXMATCH -MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16671 LEXMATCH -MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019009 LEXMATCH -MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019009 LEXMATCH -MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65683 LEXMATCH -MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:657 LEXMATCH -MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3947 LEXMATCH -MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019010 LEXMATCH -MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019010 LEXMATCH -MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:657 LEXMATCH -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65753 LEXMATCH -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12433 LEXMATCH -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019011 LEXMATCH -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019011 LEXMATCH -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65753 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275078 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:65759 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6003 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019012 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019012 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:65759 LEXMATCH -MONDO:0019013 non-histaminic angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18701 LEXMATCH -MONDO:0019013 non-histaminic angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019013 LEXMATCH -MONDO:0019013 non-histaminic angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019013 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030308 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795690 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:660 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16540 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019015 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019015 LEXMATCH -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:660 LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:closeMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:663 LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:closeMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16479 LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:closeMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019016 LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:closeMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019016 LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:closeMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:663 LEXMATCH -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:closeMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66518 LEXMATCH -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:closeMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18868 LEXMATCH -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:closeMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019017 LEXMATCH -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:closeMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019017 LEXMATCH -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:closeMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66518 LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739395 LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66529 LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9400 LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019018 LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019018 LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66529 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031243 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029434 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:666 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1017 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019019 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019019 LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:666 LEXMATCH -MONDO:0019020 PANDAS skos:closeMatch Orphanet:66624 PANDAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66624 LEXMATCH -MONDO:0019020 PANDAS skos:closeMatch Orphanet:66624 PANDAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7312 LEXMATCH -MONDO:0019020 PANDAS skos:closeMatch Orphanet:66624 PANDAS semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019020 LEXMATCH -MONDO:0019020 PANDAS skos:closeMatch Orphanet:66624 PANDAS semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019020 LEXMATCH -MONDO:0019020 PANDAS skos:closeMatch Orphanet:66624 PANDAS semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66624 LEXMATCH -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:closeMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66633 LEXMATCH -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:closeMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18869 LEXMATCH -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:closeMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019022 LEXMATCH -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:closeMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019022 LEXMATCH -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:closeMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66633 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1136033 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66646 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7842 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019023 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019023 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66646 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154800 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:154800 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036221 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66661 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18870 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019024 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019024 LEXMATCH -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66661 LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272202 LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66662 LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18871 LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019025 LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019025 LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66662 LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:667 LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15012 LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019026 LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019026 LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:667 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930799 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18675 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019028 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019028 LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67 LEXMATCH -MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67039 LEXMATCH -MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18872 LEXMATCH -MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019029 LEXMATCH -MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019029 LEXMATCH -MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67039 LEXMATCH -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67044 LEXMATCH -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16676 LEXMATCH -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019031 LEXMATCH -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019031 LEXMATCH -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67044 LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:67045 LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16677 LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019032 LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019032 LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:67045 LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263417 LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:671 LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1643 LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019033 LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019033 LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:671 LEXMATCH -MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536003 LEXMATCH -MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:674 LEXMATCH -MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:454 LEXMATCH -MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019034 LEXMATCH -MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019034 LEXMATCH -MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:674 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334489 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:677 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4210 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019035 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019035 LEXMATCH -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:677 LEXMATCH -MONDO:0019036 amoebiasis due to free-living amoebae skos:closeMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68 LEXMATCH -MONDO:0019036 amoebiasis due to free-living amoebae skos:closeMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12650 LEXMATCH -MONDO:0019036 amoebiasis due to free-living amoebae skos:closeMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019036 LEXMATCH -MONDO:0019036 amoebiasis due to free-living amoebae skos:closeMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019036 LEXMATCH -MONDO:0019036 amoebiasis due to free-living amoebae skos:closeMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036813 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:683 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7471 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019037 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019037 LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:683 LEXMATCH -MONDO:0019040 chromosomal disorder skos:closeMatch Orphanet:68335 Rare chromosomal anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68335 LEXMATCH -MONDO:0019040 chromosomal disorder skos:closeMatch Orphanet:68335 Rare chromosomal anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18874 LEXMATCH -MONDO:0019040 chromosomal disorder skos:closeMatch Orphanet:68335 Rare chromosomal anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019040 LEXMATCH -MONDO:0019040 chromosomal disorder skos:closeMatch Orphanet:68335 Rare chromosomal anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019040 LEXMATCH -MONDO:0019040 chromosomal disorder skos:closeMatch Orphanet:68335 Rare chromosomal anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68335 LEXMATCH -MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18876 LEXMATCH -MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019042 LEXMATCH -MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019042 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024381 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023520 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68356 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6895 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019046 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019046 LEXMATCH -MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68356 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060892 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019045 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68364 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18883 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019050 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019050 LEXMATCH -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68364 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058097 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062018 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68367 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22508 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rare metabolic disease LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019052 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019052 LEXMATCH -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68367 LEXMATCH -MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282528 LEXMATCH -MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68373 LEXMATCH -MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18885 LEXMATCH -MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019053 LEXMATCH -MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019053 LEXMATCH -MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68373 LEXMATCH -MONDO:0019054 congenital limb malformation skos:closeMatch Orphanet:68378 Congenital limb malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68378 LEXMATCH -MONDO:0019054 congenital limb malformation skos:closeMatch Orphanet:68378 Congenital limb malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18886 LEXMATCH -MONDO:0019054 congenital limb malformation skos:closeMatch Orphanet:68378 Congenital limb malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019054 LEXMATCH -MONDO:0019054 congenital limb malformation skos:closeMatch Orphanet:68378 Congenital limb malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019054 LEXMATCH -MONDO:0019054 congenital limb malformation skos:closeMatch Orphanet:68378 Congenital limb malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68378 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029323 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68381 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18888 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019056 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019056 LEXMATCH -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68381 LEXMATCH -MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:68411 LEXMATCH -MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18892 LEXMATCH -MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone tumor LEXMATCH -MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019060 LEXMATCH -MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019060 LEXMATCH -MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:68411 LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019903 LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:685 LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6637 LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019064 LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019064 LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:685 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002726 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18676 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019065 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019065 LEXMATCH -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69 LEXMATCH -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69061 LEXMATCH -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16678 LEXMATCH -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019067 LEXMATCH -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019067 LEXMATCH -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69061 LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:closeMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69063 LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:closeMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18896 LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:closeMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019068 LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:closeMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019068 LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:closeMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69063 LEXMATCH -MONDO:0019071 pure hair and nail ectodermal dysplasia skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69084 LEXMATCH -MONDO:0019071 pure hair and nail ectodermal dysplasia skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16680 LEXMATCH -MONDO:0019071 pure hair and nail ectodermal dysplasia skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019071 LEXMATCH -MONDO:0019071 pure hair and nail ectodermal dysplasia skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019071 LEXMATCH -MONDO:0019071 pure hair and nail ectodermal dysplasia skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69084 LEXMATCH -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137940 LEXMATCH -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2492 LEXMATCH -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137940 LEXMATCH -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137940 LEXMATCH -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137940 LEXMATCH -MONDO:0019074 bilateral acute depigmentation of the iris skos:closeMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69736 LEXMATCH -MONDO:0019074 bilateral acute depigmentation of the iris skos:closeMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18897 LEXMATCH -MONDO:0019074 bilateral acute depigmentation of the iris skos:closeMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019074 LEXMATCH -MONDO:0019074 bilateral acute depigmentation of the iris skos:closeMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019074 LEXMATCH -MONDO:0019074 bilateral acute depigmentation of the iris skos:closeMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69736 LEXMATCH -MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69737 LEXMATCH -MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16684 LEXMATCH -MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019075 LEXMATCH -MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019075 LEXMATCH -MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69737 LEXMATCH -MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:closeMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69744 LEXMATCH -MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:closeMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18898 LEXMATCH -MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:closeMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019076 LEXMATCH -MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:closeMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019076 LEXMATCH -MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:closeMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69744 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068856 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334063 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69745 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18899 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019077 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019077 LEXMATCH -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69745 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796137 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:7 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5666 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019078 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019078 LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:7 LEXMATCH -MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70 LEXMATCH -MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4531 LEXMATCH -MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019079 LEXMATCH -MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019079 LEXMATCH -MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001766 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263504 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:700 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:613 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019080 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019080 LEXMATCH -MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:700 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030805 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:703 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5972 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019082 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019082 LEXMATCH -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:703 LEXMATCH -MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037766 LEXMATCH -MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70475 LEXMATCH -MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18900 LEXMATCH -MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019084 LEXMATCH -MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019084 LEXMATCH -MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70475 LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022577 LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70476 LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7854 LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019085 LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019085 LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70476 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030155 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152018 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70482 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6383 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019086 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019086 LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70482 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004593 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008593 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206698 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70567 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9304 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019087 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019087 LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70567 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051358 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432487 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70568 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9553 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019088 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019088 LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70568 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006475 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006287 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70589 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5962 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019091 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019091 LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70589 LEXMATCH -MONDO:0019092 infantile apnea skos:closeMatch Orphanet:70590 Infantile apnea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70590 LEXMATCH -MONDO:0019092 infantile apnea skos:closeMatch Orphanet:70590 Infantile apnea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6779 LEXMATCH -MONDO:0019092 infantile apnea skos:closeMatch Orphanet:70590 Infantile apnea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019092 LEXMATCH -MONDO:0019092 infantile apnea skos:closeMatch Orphanet:70590 Infantile apnea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019092 LEXMATCH -MONDO:0019092 infantile apnea skos:closeMatch Orphanet:70590 Infantile apnea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70590 LEXMATCH -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:closeMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70593 LEXMATCH -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:closeMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11903 LEXMATCH -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:closeMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019093 LEXMATCH -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:closeMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019093 LEXMATCH -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:closeMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70593 LEXMATCH -MONDO:0019094 congenital Epstein-Barr virus infection skos:closeMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70596 LEXMATCH -MONDO:0019094 congenital Epstein-Barr virus infection skos:closeMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18903 LEXMATCH -MONDO:0019094 congenital Epstein-Barr virus infection skos:closeMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019094 LEXMATCH -MONDO:0019094 congenital Epstein-Barr virus infection skos:closeMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019094 LEXMATCH -MONDO:0019094 congenital Epstein-Barr virus infection skos:closeMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70596 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035148 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061416 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032064 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:707 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18702 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019095 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019095 LEXMATCH -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:707 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050245 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242584 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71203 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18906 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019098 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019098 LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71203 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029322 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027873 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71211 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6267 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019100 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019100 LEXMATCH -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71211 LEXMATCH -MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 LEXMATCH -MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71213 LEXMATCH -MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18908 LEXMATCH -MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019101 LEXMATCH -MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019101 LEXMATCH -MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71213 LEXMATCH -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71267 LEXMATCH -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18909 LEXMATCH -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019102 LEXMATCH -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019102 LEXMATCH -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71267 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066142 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338465 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71272 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9684 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019104 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019104 LEXMATCH -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71272 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178770 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71273 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11971 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019105 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019105 LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71273 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268150 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272052 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71275 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12916 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019107 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019107 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268150 LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71275 LEXMATCH -MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3698095 LEXMATCH -MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71276 LEXMATCH -MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18910 LEXMATCH -MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019108 LEXMATCH -MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019108 LEXMATCH -MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71276 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537980 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931684 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71279 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9778 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019109 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019109 LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71279 LEXMATCH -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71493 LEXMATCH -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16688 LEXMATCH -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019111 LEXMATCH -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019111 LEXMATCH -MONDO:0019111 familial thrombocytosis skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71493 LEXMATCH -MONDO:0019112 cancer-associated retinopathy skos:closeMatch Orphanet:71505 Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71505 LEXMATCH -MONDO:0019112 cancer-associated retinopathy skos:closeMatch Orphanet:71505 Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18912 LEXMATCH -MONDO:0019112 cancer-associated retinopathy skos:closeMatch Orphanet:71505 Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019112 LEXMATCH -MONDO:0019112 cancer-associated retinopathy skos:closeMatch Orphanet:71505 Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019112 LEXMATCH -MONDO:0019112 cancer-associated retinopathy skos:closeMatch Orphanet:71505 Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71505 LEXMATCH -MONDO:0019113 benign paroxysmal torticollis of infancy skos:closeMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71518 LEXMATCH -MONDO:0019113 benign paroxysmal torticollis of infancy skos:closeMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18913 LEXMATCH -MONDO:0019113 benign paroxysmal torticollis of infancy skos:closeMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019113 LEXMATCH -MONDO:0019113 benign paroxysmal torticollis of infancy skos:closeMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019113 LEXMATCH -MONDO:0019113 benign paroxysmal torticollis of infancy skos:closeMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71518 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072376 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267131 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71519 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18914 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019114 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019114 LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71519 LEXMATCH -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71529 LEXMATCH -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16690 LEXMATCH -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019115 LEXMATCH -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019115 LEXMATCH -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71529 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038857 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854723 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:71862 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18916 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019118 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019118 LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:71862 LEXMATCH -MONDO:0019119 muscular channelopathy skos:closeMatch Orphanet:71864 Muscular channelopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18917 LEXMATCH -MONDO:0019119 muscular channelopathy skos:closeMatch Orphanet:71864 Muscular channelopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019119 LEXMATCH -MONDO:0019119 muscular channelopathy skos:closeMatch Orphanet:71864 Muscular channelopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019119 LEXMATCH -MONDO:0019119 muscular channelopathy skos:closeMatch Orphanet:98737 Genetic neurological muscular channelopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019119 LEXMATCH -MONDO:0019119 muscular channelopathy skos:closeMatch Orphanet:98737 Genetic neurological muscular channelopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0019119 LEXMATCH -MONDO:0019120 pili bifurcati skos:closeMatch Orphanet:720 Pili bifurcati semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:720 LEXMATCH -MONDO:0019120 pili bifurcati skos:closeMatch Orphanet:720 Pili bifurcati semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18703 LEXMATCH -MONDO:0019120 pili bifurcati skos:closeMatch Orphanet:720 Pili bifurcati semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019120 LEXMATCH -MONDO:0019120 pili bifurcati skos:closeMatch Orphanet:720 Pili bifurcati semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019120 LEXMATCH -MONDO:0019120 pili bifurcati skos:closeMatch Orphanet:720 Pili bifurcati semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:720 LEXMATCH -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535939 LEXMATCH -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:723 LEXMATCH -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4386 LEXMATCH -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019121 LEXMATCH -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019121 LEXMATCH -MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:723 LEXMATCH -MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:closeMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:724 LEXMATCH -MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:closeMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:519 LEXMATCH -MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:closeMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019122 LEXMATCH -MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:closeMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019122 LEXMATCH -MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:closeMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:724 LEXMATCH -MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:725 LEXMATCH -MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1513 LEXMATCH -MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019123 LEXMATCH -MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019123 LEXMATCH -MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:725 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:727 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3652 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019124 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019124 LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:727 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038304 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032453 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:728 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7417 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019125 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019125 LEXMATCH -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:728 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036102 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085655 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:732 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7425 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019127 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019127 LEXMATCH -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:732 LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73217 LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7100 LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019128 LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019128 LEXMATCH -MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73217 LEXMATCH -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:closeMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73223 LEXMATCH -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:closeMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18919 LEXMATCH -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:closeMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019129 LEXMATCH -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:closeMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019129 LEXMATCH -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:closeMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73223 LEXMATCH -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:closeMatch Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73224 LEXMATCH -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:closeMatch Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18920 LEXMATCH -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:closeMatch Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019130 LEXMATCH -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:closeMatch Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019130 LEXMATCH -MONDO:0019130 tubular renal disease-cardiomyopathy syndrome skos:closeMatch Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73224 LEXMATCH -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:closeMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73230 LEXMATCH -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:closeMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18921 LEXMATCH -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:closeMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019131 LEXMATCH -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:closeMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019131 LEXMATCH -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:closeMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73230 LEXMATCH -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:closeMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73245 LEXMATCH -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:closeMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18922 LEXMATCH -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:closeMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019132 LEXMATCH -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:closeMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019132 LEXMATCH -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:closeMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73245 LEXMATCH -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73246 LEXMATCH -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18923 LEXMATCH -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019133 LEXMATCH -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019133 LEXMATCH -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73246 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206719 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73256 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10641 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019134 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019134 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73256 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028098 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061418 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043541 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73263 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10224 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019136 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019136 LEXMATCH -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73263 LEXMATCH -MONDO:0019137 non-24-hour sleep-wake syndrome skos:closeMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73267 LEXMATCH -MONDO:0019137 non-24-hour sleep-wake syndrome skos:closeMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10949 LEXMATCH -MONDO:0019137 non-24-hour sleep-wake syndrome skos:closeMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019137 LEXMATCH -MONDO:0019137 non-24-hour sleep-wake syndrome skos:closeMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019137 LEXMATCH -MONDO:0019137 non-24-hour sleep-wake syndrome skos:closeMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73267 LEXMATCH -MONDO:0019140 acute ackee fruit intoxication skos:closeMatch Orphanet:73423 Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:73423 LEXMATCH -MONDO:0019140 acute ackee fruit intoxication skos:closeMatch Orphanet:73423 Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9299 LEXMATCH -MONDO:0019140 acute ackee fruit intoxication skos:closeMatch Orphanet:73423 Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019140 LEXMATCH -MONDO:0019140 acute ackee fruit intoxication skos:closeMatch Orphanet:73423 Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019140 LEXMATCH -MONDO:0019140 acute ackee fruit intoxication skos:closeMatch Orphanet:73423 Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:73423 LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949506 LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:735 LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4438 LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019141 LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019141 LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:735 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036181 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061356 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:738 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10353 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019142 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019142 LEXMATCH -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:738 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069517 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392662 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:74 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:683 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019143 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019143 LEXMATCH -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:74 LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:743 LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16543 LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein s deficiency LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019144 LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019144 LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:743 LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:745 LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16544 LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein c deficiency LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019145 LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019145 LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:745 LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3266863 LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:748 LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12977 LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019146 LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019146 LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:748 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028586 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027030 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75110 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18924 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019147 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019147 LEXMATCH -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75110 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053687 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75233 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7899 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019148 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019148 LEXMATCH -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75233 LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008384 LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75234 LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12099 LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019149 LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019149 LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75234 LEXMATCH -MONDO:0019151 oligocone trichromacy skos:closeMatch Orphanet:75378 Oligocone trichromacy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75378 LEXMATCH -MONDO:0019151 oligocone trichromacy skos:closeMatch Orphanet:75378 Oligocone trichromacy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18925 LEXMATCH -MONDO:0019151 oligocone trichromacy skos:closeMatch Orphanet:75378 Oligocone trichromacy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019151 LEXMATCH -MONDO:0019151 oligocone trichromacy skos:closeMatch Orphanet:75378 Oligocone trichromacy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019151 LEXMATCH -MONDO:0019151 oligocone trichromacy skos:closeMatch Orphanet:75378 Oligocone trichromacy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75378 LEXMATCH -MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 LEXMATCH -MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75382 LEXMATCH -MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10118 LEXMATCH -MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019152 LEXMATCH -MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019152 LEXMATCH -MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75382 LEXMATCH -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:closeMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75389 LEXMATCH -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:closeMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18926 LEXMATCH -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:closeMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019153 LEXMATCH -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:closeMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019153 LEXMATCH -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:closeMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75389 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056292 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039585 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:754 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5803 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019154 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019154 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:754 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300068 LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300068 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024406 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:755 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3244 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019155 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019155 LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:755 LEXMATCH -MONDO:0019156 angioosteohypotrophic syndrome skos:closeMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75508 LEXMATCH -MONDO:0019156 angioosteohypotrophic syndrome skos:closeMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18927 LEXMATCH -MONDO:0019156 angioosteohypotrophic syndrome skos:closeMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019156 LEXMATCH -MONDO:0019156 angioosteohypotrophic syndrome skos:closeMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019156 LEXMATCH -MONDO:0019156 angioosteohypotrophic syndrome skos:closeMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75508 LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:closeMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75564 LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:closeMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8249 LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:closeMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019157 LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:closeMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019157 LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:closeMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75564 LEXMATCH -MONDO:0019158 tropical endomyocardial fibrosis skos:closeMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75565 LEXMATCH -MONDO:0019158 tropical endomyocardial fibrosis skos:closeMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18928 LEXMATCH -MONDO:0019158 tropical endomyocardial fibrosis skos:closeMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019158 LEXMATCH -MONDO:0019158 tropical endomyocardial fibrosis skos:closeMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019158 LEXMATCH -MONDO:0019158 tropical endomyocardial fibrosis skos:closeMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75565 LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052841 LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75566 LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18929 LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019159 LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019159 LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75566 LEXMATCH -MONDO:0019160 primary progressive freezing gait skos:closeMatch Orphanet:75567 Primary progressive freezing gait semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75567 LEXMATCH -MONDO:0019160 primary progressive freezing gait skos:closeMatch Orphanet:75567 Primary progressive freezing gait semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18930 LEXMATCH -MONDO:0019160 primary progressive freezing gait skos:closeMatch Orphanet:75567 Primary progressive freezing gait semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019160 LEXMATCH -MONDO:0019160 primary progressive freezing gait skos:closeMatch Orphanet:75567 Primary progressive freezing gait semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019160 LEXMATCH -MONDO:0019160 primary progressive freezing gait skos:closeMatch Orphanet:75567 Primary progressive freezing gait semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75567 LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268436 LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:756 LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16545 LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019161 LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019161 LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:756 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon syndrome LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449844 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:757 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4553 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019162 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019162 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:757 LEXMATCH -MONDO:0019164 6q terminal deletion syndrome skos:closeMatch Orphanet:75857 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75857 LEXMATCH -MONDO:0019164 6q terminal deletion syndrome skos:closeMatch Orphanet:75857 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18931 LEXMATCH -MONDO:0019164 6q terminal deletion syndrome skos:closeMatch Orphanet:75857 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019164 LEXMATCH -MONDO:0019164 6q terminal deletion syndrome skos:closeMatch Orphanet:75857 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019164 LEXMATCH -MONDO:0019164 6q terminal deletion syndrome skos:closeMatch Orphanet:75857 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75857 LEXMATCH -MONDO:0019167 immunoglobulin A vasculitis skos:closeMatch Orphanet:761 Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:761 LEXMATCH -MONDO:0019167 immunoglobulin A vasculitis skos:closeMatch Orphanet:761 Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8204 LEXMATCH -MONDO:0019167 immunoglobulin A vasculitis skos:closeMatch Orphanet:761 Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019167 LEXMATCH -MONDO:0019167 immunoglobulin A vasculitis skos:closeMatch Orphanet:761 Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019167 LEXMATCH -MONDO:0019167 immunoglobulin A vasculitis skos:closeMatch Orphanet:761 Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:761 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037652 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041188 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:764 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4614 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019168 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019168 LEXMATCH -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:764 LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:765 LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7513 LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019169 LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019169 LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:765 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036024 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:767 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7360 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019170 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019170 LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:767 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035828 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101016 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3284 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019171 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019171 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101016 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057926 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:768 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16547 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019171 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019171 LEXMATCH -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:768 LEXMATCH -MONDO:0019172 aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003076 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037742 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034494 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:770 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7516 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019173 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019173 LEXMATCH -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:770 LEXMATCH -MONDO:0019175 primary lymphedema skos:closeMatch Orphanet:77240 Primary lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77240 LEXMATCH -MONDO:0019175 primary lymphedema skos:closeMatch Orphanet:77240 Primary lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18932 LEXMATCH -MONDO:0019175 primary lymphedema skos:closeMatch Orphanet:77240 Primary lymphedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019175 LEXMATCH -MONDO:0019175 primary lymphedema skos:closeMatch Orphanet:77240 Primary lymphedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019175 LEXMATCH -MONDO:0019175 primary lymphedema skos:closeMatch Orphanet:77240 Primary lymphedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77240 LEXMATCH -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77295 LEXMATCH -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9632 LEXMATCH -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019177 LEXMATCH -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019177 LEXMATCH -MONDO:0019177 odontoleukodystrophy skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77295 LEXMATCH -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:closeMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77300 LEXMATCH -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:closeMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18933 LEXMATCH -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:closeMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019178 LEXMATCH -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:closeMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019178 LEXMATCH -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:closeMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77300 LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711390 LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:77301 LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18934 LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019179 LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019179 LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:77301 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019883 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039445 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:774 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6626 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019180 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019180 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:774 LEXMATCH -MONDO:0019181 non-syndromic X-linked intellectual disability skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:777 LEXMATCH -MONDO:0019181 non-syndromic X-linked intellectual disability skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18640 LEXMATCH -MONDO:0019181 non-syndromic X-linked intellectual disability skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019181 LEXMATCH -MONDO:0019181 non-syndromic X-linked intellectual disability skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019181 LEXMATCH -MONDO:0019181 non-syndromic X-linked intellectual disability skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:777 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601665 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601665 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:77828 Genetic obesity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18935 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:77828 Genetic obesity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019182 LEXMATCH -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:77828 Genetic obesity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019182 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037688 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037731 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034362 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:781 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7515 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019186 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019186 LEXMATCH -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:781 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059255 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495488 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:782 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5701 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019187 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019187 LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:782 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039281 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035934 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:783 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7593 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019188 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019188 LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:783 LEXMATCH -MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18937 LEXMATCH -MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid and other organic acid metabolism LEXMATCH -MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019189 LEXMATCH -MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019189 LEXMATCH -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79076 LEXMATCH -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16696 LEXMATCH -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019190 LEXMATCH -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019190 LEXMATCH -MONDO:0019190 juvenile polyposis of infancy skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79076 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026103 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79078 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7043 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019191 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019191 LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79078 LEXMATCH -MONDO:0019192 AKT2-related familial partial lipodystrophy skos:closeMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79085 LEXMATCH -MONDO:0019192 AKT2-related familial partial lipodystrophy skos:closeMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12599 LEXMATCH -MONDO:0019192 AKT2-related familial partial lipodystrophy skos:closeMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019192 LEXMATCH -MONDO:0019192 AKT2-related familial partial lipodystrophy skos:closeMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019192 LEXMATCH -MONDO:0019192 AKT2-related familial partial lipodystrophy skos:closeMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79085 LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271693 LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79086 LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12603 LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019193 LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019193 LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79086 LEXMATCH -MONDO:0019194 localized lipodystrophy skos:closeMatch Orphanet:79088 Localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5867 LEXMATCH -MONDO:0019194 localized lipodystrophy skos:closeMatch Orphanet:79088 Localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019194 LEXMATCH -MONDO:0019194 localized lipodystrophy skos:closeMatch Orphanet:79088 Localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019194 LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79091 LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9494 LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary inclusion body myopathy type 3 LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019195 LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019195 LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79091 LEXMATCH -MONDO:0019196 Foix-Alajouanine syndrome skos:closeMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79093 LEXMATCH -MONDO:0019196 Foix-Alajouanine syndrome skos:closeMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4163 LEXMATCH -MONDO:0019196 Foix-Alajouanine syndrome skos:closeMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019196 LEXMATCH -MONDO:0019196 Foix-Alajouanine syndrome skos:closeMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019196 LEXMATCH -MONDO:0019196 Foix-Alajouanine syndrome skos:closeMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79093 LEXMATCH -MONDO:0019197 folinic acid-responsive seizures skos:closeMatch Orphanet:79097 Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79097 LEXMATCH -MONDO:0019197 folinic acid-responsive seizures skos:closeMatch Orphanet:79097 Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18938 LEXMATCH -MONDO:0019197 folinic acid-responsive seizures skos:closeMatch Orphanet:79097 Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019197 LEXMATCH -MONDO:0019197 folinic acid-responsive seizures skos:closeMatch Orphanet:79097 Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019197 LEXMATCH -MONDO:0019197 folinic acid-responsive seizures skos:closeMatch Orphanet:79097 Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79097 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042742 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029077 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79098 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18939 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019198 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019198 LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79098 LEXMATCH -MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:closeMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79099 LEXMATCH -MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:closeMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18940 LEXMATCH -MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:closeMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019199 LEXMATCH -MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:closeMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019199 LEXMATCH -MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:closeMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79099 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038914 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268000 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:791 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5694 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:268000 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019200 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019200 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268000 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:791 LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:268000 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043788 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268446 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79102 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10814 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019201 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019201 LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79102 LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066948 LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79105 LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18941 LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019202 LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019202 LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79105 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066728 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279945 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79126 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12835 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019203 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019203 LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79126 LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066393 LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79127 LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18942 LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019204 LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019204 LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79127 LEXMATCH -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79129 LEXMATCH -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18943 LEXMATCH -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019205 LEXMATCH -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019205 LEXMATCH -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79129 LEXMATCH -MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853564 LEXMATCH -MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79134 LEXMATCH -MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16701 LEXMATCH -MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019207 LEXMATCH -MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019207 LEXMATCH -MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79134 LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960543 LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79138 LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18944 LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019208 LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019208 LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79138 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014057 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79139 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6797 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019209 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019209 LEXMATCH -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79139 LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007129 LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79140 LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9266 LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019210 LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019210 LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79140 LEXMATCH -MONDO:0019211 isolated congenital anonychia skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79143 LEXMATCH -MONDO:0019211 isolated congenital anonychia skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10048 LEXMATCH -MONDO:0019211 isolated congenital anonychia skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019211 LEXMATCH -MONDO:0019211 isolated congenital anonychia skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019211 LEXMATCH -MONDO:0019211 isolated congenital anonychia skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79143 LEXMATCH -MONDO:0019212 disseminated superficial actinic porokeratosis skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79152 LEXMATCH -MONDO:0019212 disseminated superficial actinic porokeratosis skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10983 LEXMATCH -MONDO:0019212 disseminated superficial actinic porokeratosis skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019212 LEXMATCH -MONDO:0019212 disseminated superficial actinic porokeratosis skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019212 LEXMATCH -MONDO:0019212 disseminated superficial actinic porokeratosis skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79152 LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061023 LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79161 LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18946 LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of carbohydrate metabolism LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019214 LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019214 LEXMATCH -MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79161 LEXMATCH -MONDO:0019215 classic organic aciduria skos:closeMatch Orphanet:79163 Classic organic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79163 LEXMATCH -MONDO:0019215 classic organic aciduria skos:closeMatch Orphanet:79163 Classic organic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18947 LEXMATCH -MONDO:0019215 classic organic aciduria skos:closeMatch Orphanet:79163 Classic organic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019215 LEXMATCH -MONDO:0019215 classic organic aciduria skos:closeMatch Orphanet:79163 Classic organic aciduria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019215 LEXMATCH -MONDO:0019215 classic organic aciduria skos:closeMatch Orphanet:79163 Classic organic aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79163 LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268641 LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79166 LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18948 LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid absorption and transport LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019216 LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019216 LEXMATCH -MONDO:0019216 inborn disorder of amino acid transport skos:closeMatch Orphanet:79166 Disorder of amino acid absorption and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79166 LEXMATCH -MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch Orphanet:79168 Disorder of bile acid synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18949 LEXMATCH -MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch Orphanet:79168 Disorder of bile acid synthesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of bile acid synthesis LEXMATCH -MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch Orphanet:79168 Disorder of bile acid synthesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019218 LEXMATCH -MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch Orphanet:79168 Disorder of bile acid synthesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019218 LEXMATCH -MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:closeMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18950 LEXMATCH -MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:closeMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of neurotransmitter metabolism and transport LEXMATCH -MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:closeMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019219 LEXMATCH -MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport skos:closeMatch Orphanet:79169 Disorder of neurotransmitter metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019219 LEXMATCH -MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79171 LEXMATCH -MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18951 LEXMATCH -MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of cobalamin metabolism and transport LEXMATCH -MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019220 LEXMATCH -MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019220 LEXMATCH -MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMatch Orphanet:79171 Disorder of cobalamin metabolism and transport semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79171 LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79173 LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18953 LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of methionine cycle and sulfur amino acid metabolism LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019222 LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019222 LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79173 LEXMATCH -MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79174 LEXMATCH -MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18954 LEXMATCH -MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of fatty acid oxidation and ketone body metabolism LEXMATCH -MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019223 LEXMATCH -MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019223 LEXMATCH -MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79174 LEXMATCH -MONDO:0019225 disorder of gluconeogenesis skos:closeMatch Orphanet:79177 Gluconeogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18956 LEXMATCH -MONDO:0019225 disorder of gluconeogenesis skos:closeMatch Orphanet:79177 Gluconeogenesis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019225 LEXMATCH -MONDO:0019225 disorder of gluconeogenesis skos:closeMatch Orphanet:79177 Gluconeogenesis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019225 LEXMATCH -MONDO:0019226 glucose transport disorder skos:closeMatch Orphanet:79178 Glucose transport disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18957 LEXMATCH -MONDO:0019226 glucose transport disorder skos:closeMatch Orphanet:79178 Glucose transport disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019226 LEXMATCH -MONDO:0019226 glucose transport disorder skos:closeMatch Orphanet:79178 Glucose transport disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019226 LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268512 LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79181 LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18959 LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019228 LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019228 LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79181 LEXMATCH -MONDO:0019229 inborn disorder of ketolysis skos:closeMatch Orphanet:79183 Disorder of ketolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79183 LEXMATCH -MONDO:0019229 inborn disorder of ketolysis skos:closeMatch Orphanet:79183 Disorder of ketolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18960 LEXMATCH -MONDO:0019229 inborn disorder of ketolysis skos:closeMatch Orphanet:79183 Disorder of ketolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019229 LEXMATCH -MONDO:0019229 inborn disorder of ketolysis skos:closeMatch Orphanet:79183 Disorder of ketolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019229 LEXMATCH -MONDO:0019229 inborn disorder of ketolysis skos:closeMatch Orphanet:79183 Disorder of ketolysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79183 LEXMATCH -MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18961 LEXMATCH -MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of ornithine or proline metabolism LEXMATCH -MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019230 LEXMATCH -MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019230 LEXMATCH -MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79186 LEXMATCH -MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18962 LEXMATCH -MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pentose phosphate metabolism LEXMATCH -MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019231 LEXMATCH -MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019231 LEXMATCH -MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79186 LEXMATCH -MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79187 LEXMATCH -MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18963 LEXMATCH -MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of peptide metabolism LEXMATCH -MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019232 LEXMATCH -MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019232 LEXMATCH -MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79187 LEXMATCH -MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch Orphanet:79188 Peroxisomal beta-oxidation disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12470 LEXMATCH -MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch Orphanet:79188 Peroxisomal beta-oxidation disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019233 LEXMATCH -MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch Orphanet:79188 Peroxisomal beta-oxidation disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019233 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79189 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11890 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019234 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019234 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79189 LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome LEXMATCH -MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18964 LEXMATCH -MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of phenylalanin or tyrosine metabolism LEXMATCH -MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019235 LEXMATCH -MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019235 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061476 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79191 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18965 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine metabolism LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019236 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019236 LEXMATCH -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79191 LEXMATCH -MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79192 LEXMATCH -MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18966 LEXMATCH -MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyridoxine metabolism LEXMATCH -MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019237 LEXMATCH -MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019237 LEXMATCH -MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79192 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070969 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79193 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18967 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyrimidine metabolism LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019238 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019238 LEXMATCH -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79193 LEXMATCH -MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18968 LEXMATCH -MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of serine or glycine metabolism LEXMATCH -MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019239 LEXMATCH -MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019239 LEXMATCH -MONDO:0019240 sterol biosynthesis disorder skos:closeMatch Orphanet:79195 Sterol biosynthesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18969 LEXMATCH -MONDO:0019240 sterol biosynthesis disorder skos:closeMatch Orphanet:79195 Sterol biosynthesis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019240 LEXMATCH -MONDO:0019240 sterol biosynthesis disorder skos:closeMatch Orphanet:79195 Sterol biosynthesis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019240 LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268517 LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79196 LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18970 LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of the gamma-glutamyl cycle LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019241 LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019241 LEXMATCH -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79196 LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342712 LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79197 LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18971 LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019242 LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019242 LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79197 LEXMATCH -MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18972 LEXMATCH -MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of energy metabolism LEXMATCH -MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019243 LEXMATCH -MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019243 LEXMATCH -MONDO:0019245 lysosomal lipid storage disorder skos:closeMatch Orphanet:79204 Lipid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12511 LEXMATCH -MONDO:0019245 lysosomal lipid storage disorder skos:closeMatch Orphanet:79204 Lipid storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019245 LEXMATCH -MONDO:0019245 lysosomal lipid storage disorder skos:closeMatch Orphanet:79204 Lipid storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019245 LEXMATCH -MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18974 LEXMATCH -MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of lysosomal amino acid transport LEXMATCH -MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019246 LEXMATCH -MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019246 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79212 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18975 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019248 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019248 LEXMATCH -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79212 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028093 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026703 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79213 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7065 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019249 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019249 LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79213 LEXMATCH -MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18976 LEXMATCH -MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of biogenic amine metabolism and transport LEXMATCH -MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019250 LEXMATCH -MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019250 LEXMATCH -MONDO:0019251 oligosaccharidosis skos:closeMatch Orphanet:79215 Oligosaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79215 LEXMATCH -MONDO:0019251 oligosaccharidosis skos:closeMatch Orphanet:79215 Oligosaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18977 LEXMATCH -MONDO:0019251 oligosaccharidosis skos:closeMatch Orphanet:79215 Oligosaccharidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019251 LEXMATCH -MONDO:0019251 oligosaccharidosis skos:closeMatch Orphanet:79215 Oligosaccharidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019251 LEXMATCH -MONDO:0019251 oligosaccharidosis skos:closeMatch Orphanet:79215 Oligosaccharidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79215 LEXMATCH -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:closeMatch Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18979 LEXMATCH -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:closeMatch Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019253 LEXMATCH -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:closeMatch Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019253 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034139 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79224 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18980 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine or pyrimidine metabolism LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019254 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019254 LEXMATCH -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79224 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037899 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79225 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7672 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019255 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019255 LEXMATCH -MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79225 LEXMATCH -MONDO:0019256 sterol metabolism disorder skos:closeMatch Orphanet:79226 Sterol metabolism disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18981 LEXMATCH -MONDO:0019256 sterol metabolism disorder skos:closeMatch Orphanet:79226 Sterol metabolism disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019256 LEXMATCH -MONDO:0019256 sterol metabolism disorder skos:closeMatch Orphanet:79226 Sterol metabolism disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019256 LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79230 LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10092 LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019257 LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019257 LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79230 LEXMATCH -MONDO:0019258 mild phenylketonuria skos:closeMatch Orphanet:79253 Mild phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79253 LEXMATCH -MONDO:0019258 mild phenylketonuria skos:closeMatch Orphanet:79253 Mild phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10324 LEXMATCH -MONDO:0019258 mild phenylketonuria skos:closeMatch Orphanet:79253 Mild phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019258 LEXMATCH -MONDO:0019258 mild phenylketonuria skos:closeMatch Orphanet:79253 Mild phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019258 LEXMATCH -MONDO:0019258 mild phenylketonuria skos:closeMatch Orphanet:79253 Mild phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79253 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034875 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751434 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79254 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18982 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019259 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019259 LEXMATCH -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79254 LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022797 LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79262 LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10973 LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019260 LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019260 LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79262 LEXMATCH -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79263 LEXMATCH -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9447 LEXMATCH -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019261 LEXMATCH -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019261 LEXMATCH -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79263 LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052073 LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79264 LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4938 LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019262 LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019262 LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79264 LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015289 LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79278 LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4527 LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019263 LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019263 LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79278 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79281 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3903 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019264 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019264 LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79281 LEXMATCH -MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:closeMatch Orphanet:79298 Diazoxide-resistant focal hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18983 LEXMATCH -MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:closeMatch Orphanet:79298 Diazoxide-resistant focal hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019265 LEXMATCH -MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:closeMatch Orphanet:79298 Diazoxide-resistant focal hyperinsulinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019265 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051316 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263859 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:793 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7606 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019266 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019266 LEXMATCH -MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:793 LEXMATCH -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79312 LEXMATCH -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16714 LEXMATCH -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019267 LEXMATCH -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019267 LEXMATCH -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79312 LEXMATCH -MONDO:0019268 epidermal disease skos:closeMatch Orphanet:79353 Epidermal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18984 LEXMATCH -MONDO:0019268 epidermal disease skos:closeMatch Orphanet:79353 Epidermal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019268 LEXMATCH -MONDO:0019268 epidermal disease skos:closeMatch Orphanet:79353 Epidermal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019268 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021198 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020757 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79354 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18985 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019269 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019269 LEXMATCH -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79354 LEXMATCH -MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015280 LEXMATCH -MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79355 LEXMATCH -MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18986 LEXMATCH -MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019270 LEXMATCH -MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019270 LEXMATCH -MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79355 LEXMATCH -MONDO:0019272 hereditary palmoplantar keratoderma skos:closeMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79357 LEXMATCH -MONDO:0019272 hereditary palmoplantar keratoderma skos:closeMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18988 LEXMATCH -MONDO:0019272 hereditary palmoplantar keratoderma skos:closeMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019272 LEXMATCH -MONDO:0019272 hereditary palmoplantar keratoderma skos:closeMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019272 LEXMATCH -MONDO:0019272 hereditary palmoplantar keratoderma skos:closeMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79357 LEXMATCH -MONDO:0019276 inherited epidermolysis bullosa skos:closeMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79361 LEXMATCH -MONDO:0019276 inherited epidermolysis bullosa skos:closeMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18992 LEXMATCH -MONDO:0019276 inherited epidermolysis bullosa skos:closeMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019276 LEXMATCH -MONDO:0019276 inherited epidermolysis bullosa skos:closeMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019276 LEXMATCH -MONDO:0019276 inherited epidermolysis bullosa skos:closeMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79361 LEXMATCH -MONDO:0019278 hair anomaly skos:closeMatch Orphanet:79363 Hair anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79363 LEXMATCH -MONDO:0019278 hair anomaly skos:closeMatch Orphanet:79363 Hair anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18994 LEXMATCH -MONDO:0019278 hair anomaly skos:closeMatch Orphanet:79363 Hair anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019278 LEXMATCH -MONDO:0019278 hair anomaly skos:closeMatch Orphanet:79363 Hair anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019278 LEXMATCH -MONDO:0019278 hair anomaly skos:closeMatch Orphanet:79363 Hair anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79363 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020864 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020555 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79365 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18996 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019280 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019280 LEXMATCH -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79365 LEXMATCH -MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028684 LEXMATCH -MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79368 LEXMATCH -MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18999 LEXMATCH -MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019283 LEXMATCH -MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019283 LEXMATCH -MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79368 LEXMATCH -MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19000 LEXMATCH -MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated nail anomaly LEXMATCH -MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019284 LEXMATCH -MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019284 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010452 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013575 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79373 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6317 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019287 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019287 LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79373 LEXMATCH -MONDO:0019288 skin pigmentation disorder skos:closeMatch Orphanet:79374 Pigmentation anomaly of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19003 LEXMATCH -MONDO:0019288 skin pigmentation disorder skos:closeMatch Orphanet:79374 Pigmentation anomaly of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019288 LEXMATCH -MONDO:0019288 skin pigmentation disorder skos:closeMatch Orphanet:79374 Pigmentation anomaly of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019288 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:183466 Genetic hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019289 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:183466 Genetic hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0019289 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:79375 Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79375 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:79375 Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19004 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:79375 Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019289 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:79375 Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019289 LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:closeMatch Orphanet:79375 Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79375 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:183469 Genetic hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019290 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:183469 Genetic hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0019290 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040868 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79376 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19005 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019290 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019290 LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79376 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162819 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79379 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19008 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019293 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019293 LEXMATCH -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79379 LEXMATCH -MONDO:0019294 mixed dermis disorder skos:closeMatch Orphanet:183481 Genetic mixed dermis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019294 LEXMATCH -MONDO:0019294 mixed dermis disorder skos:closeMatch Orphanet:79380 Mixed dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19009 LEXMATCH -MONDO:0019294 mixed dermis disorder skos:closeMatch Orphanet:79380 Mixed dermis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019294 LEXMATCH -MONDO:0019294 mixed dermis disorder skos:closeMatch Orphanet:79380 Mixed dermis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019294 LEXMATCH -MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290008 LEXMATCH -MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79382 LEXMATCH -MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19011 LEXMATCH -MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019296 LEXMATCH -MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019296 LEXMATCH -MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79382 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063493 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79389 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19017 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019303 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019303 LEXMATCH -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79389 LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79394 LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9736 LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019306 LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019306 LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79394 LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79402 LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12922 LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019307 LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019307 LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79402 LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79405 LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2143 LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019308 LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019308 LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79405 LEXMATCH -MONDO:0019309 late-onset junctional epidermolysis bullosa skos:closeMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79406 LEXMATCH -MONDO:0019309 late-onset junctional epidermolysis bullosa skos:closeMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12921 LEXMATCH -MONDO:0019309 late-onset junctional epidermolysis bullosa skos:closeMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019309 LEXMATCH -MONDO:0019309 late-onset junctional epidermolysis bullosa skos:closeMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019309 LEXMATCH -MONDO:0019309 late-onset junctional epidermolysis bullosa skos:closeMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79406 LEXMATCH -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79409 LEXMATCH -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16720 LEXMATCH -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019310 LEXMATCH -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019310 LEXMATCH -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79409 LEXMATCH -MONDO:0019311 wooly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343114 LEXMATCH -MONDO:0019311 wooly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79414 LEXMATCH -MONDO:0019311 wooly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13025 LEXMATCH -MONDO:0019311 wooly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019311 LEXMATCH -MONDO:0019311 wooly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019311 LEXMATCH -MONDO:0019311 wooly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79414 LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071775 LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79430 LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6643 LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019312 LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019312 LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79430 LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79455 LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12687 LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019314 LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019314 LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79455 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012812 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024901 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79456 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12686 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019315 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019315 LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79456 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046752 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042111 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79457 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16723 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019316 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019316 LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79457 LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473574 LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79466 LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5484 LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019318 LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019318 LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79466 LEXMATCH -MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0362030 LEXMATCH -MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79467 LEXMATCH -MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19020 LEXMATCH -MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019319 LEXMATCH -MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019319 LEXMATCH -MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79467 LEXMATCH -MONDO:0019320 acanthokeratolytic verrucous nevus skos:closeMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79468 LEXMATCH -MONDO:0019320 acanthokeratolytic verrucous nevus skos:closeMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5485 LEXMATCH -MONDO:0019320 acanthokeratolytic verrucous nevus skos:closeMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019320 LEXMATCH -MONDO:0019320 acanthokeratolytic verrucous nevus skos:closeMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019320 LEXMATCH -MONDO:0019320 acanthokeratolytic verrucous nevus skos:closeMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79468 LEXMATCH -MONDO:0019321 atypical Werner syndrome skos:closeMatch Orphanet:79474 Atypical Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79474 LEXMATCH -MONDO:0019321 atypical Werner syndrome skos:closeMatch Orphanet:79474 Atypical Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11910 LEXMATCH -MONDO:0019321 atypical Werner syndrome skos:closeMatch Orphanet:79474 Atypical Werner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019321 LEXMATCH -MONDO:0019321 atypical Werner syndrome skos:closeMatch Orphanet:79474 Atypical Werner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019321 LEXMATCH -MONDO:0019321 atypical Werner syndrome skos:closeMatch Orphanet:79474 Atypical Werner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79474 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057053 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263316 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79479 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19021 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019322 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019322 LEXMATCH -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79479 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058917 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263312 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79480 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19022 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019323 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019323 LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79480 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057069 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263313 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79481 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7354 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019324 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019324 LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79481 LEXMATCH -MONDO:0019325 phakomatosis cesioflammea skos:closeMatch Orphanet:79483 Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79483 LEXMATCH -MONDO:0019325 phakomatosis cesioflammea skos:closeMatch Orphanet:79483 Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19023 LEXMATCH -MONDO:0019325 phakomatosis cesioflammea skos:closeMatch Orphanet:79483 Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019325 LEXMATCH -MONDO:0019325 phakomatosis cesioflammea skos:closeMatch Orphanet:79483 Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019325 LEXMATCH -MONDO:0019325 phakomatosis cesioflammea skos:closeMatch Orphanet:79483 Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79483 LEXMATCH -MONDO:0019326 phakomatosis cesiomarmorata skos:closeMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79484 LEXMATCH -MONDO:0019326 phakomatosis cesiomarmorata skos:closeMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19024 LEXMATCH -MONDO:0019326 phakomatosis cesiomarmorata skos:closeMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019326 LEXMATCH -MONDO:0019326 phakomatosis cesiomarmorata skos:closeMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019326 LEXMATCH -MONDO:0019326 phakomatosis cesiomarmorata skos:closeMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79484 LEXMATCH -MONDO:0019327 phakomatosis spilorosea skos:closeMatch Orphanet:79485 Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79485 LEXMATCH -MONDO:0019327 phakomatosis spilorosea skos:closeMatch Orphanet:79485 Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19025 LEXMATCH -MONDO:0019327 phakomatosis spilorosea skos:closeMatch Orphanet:79485 Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019327 LEXMATCH -MONDO:0019327 phakomatosis spilorosea skos:closeMatch Orphanet:79485 Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019327 LEXMATCH -MONDO:0019327 phakomatosis spilorosea skos:closeMatch Orphanet:79485 Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79485 LEXMATCH -MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79489 LEXMATCH -MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6010 LEXMATCH -MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019328 LEXMATCH -MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019328 LEXMATCH -MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79489 LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79490 LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13020 LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary lymphangioma LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019329 LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019329 LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79490 LEXMATCH -MONDO:0019330 pili gemini skos:closeMatch Orphanet:79492 Pili gemini semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79492 LEXMATCH -MONDO:0019330 pili gemini skos:closeMatch Orphanet:79492 Pili gemini semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19026 LEXMATCH -MONDO:0019330 pili gemini skos:closeMatch Orphanet:79492 Pili gemini semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019330 LEXMATCH -MONDO:0019330 pili gemini skos:closeMatch Orphanet:79492 Pili gemini semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019330 LEXMATCH -MONDO:0019330 pili gemini skos:closeMatch Orphanet:79492 Pili gemini semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79492 LEXMATCH -MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79501 LEXMATCH -MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3103 LEXMATCH -MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019332 LEXMATCH -MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019332 LEXMATCH -MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79501 LEXMATCH -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79643 LEXMATCH -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16726 LEXMATCH -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019333 LEXMATCH -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019333 LEXMATCH -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79643 LEXMATCH -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79644 LEXMATCH -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16727 LEXMATCH -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019334 LEXMATCH -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019334 LEXMATCH -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79644 LEXMATCH -MONDO:0019335 mild hyperphenylalaninemia skos:closeMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79651 LEXMATCH -MONDO:0019335 mild hyperphenylalaninemia skos:closeMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19027 LEXMATCH -MONDO:0019335 mild hyperphenylalaninemia skos:closeMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019335 LEXMATCH -MONDO:0019335 mild hyperphenylalaninemia skos:closeMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019335 LEXMATCH -MONDO:0019335 mild hyperphenylalaninemia skos:closeMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79651 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017727 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79665 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6482 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019336 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019336 LEXMATCH -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79665 LEXMATCH -MONDO:0019337 autoimmune bullous skin disease skos:closeMatch Orphanet:79669 Autoimmune bullous skin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19028 LEXMATCH -MONDO:0019337 autoimmune bullous skin disease skos:closeMatch Orphanet:79669 Autoimmune bullous skin disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019337 LEXMATCH -MONDO:0019337 autoimmune bullous skin disease skos:closeMatch Orphanet:79669 Autoimmune bullous skin disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019337 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039486 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036202 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:797 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7607 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019338 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019338 LEXMATCH -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:797 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056894 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535317 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:8 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5674 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019339 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019339 LEXMATCH -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:8 LEXMATCH -MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039710 LEXMATCH -MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:801 LEXMATCH -MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18705 LEXMATCH -MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019340 LEXMATCH -MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019340 LEXMATCH -MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:801 LEXMATCH -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265202 LEXMATCH -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:808 LEXMATCH -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8562 LEXMATCH -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019342 LEXMATCH -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019342 LEXMATCH -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:808 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609059 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:81 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:735 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019344 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019344 LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:81 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017915 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054178 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:810 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4818 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019345 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019345 LEXMATCH -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:810 LEXMATCH -MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 LEXMATCH -MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:812 LEXMATCH -MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7639 LEXMATCH -MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019346 LEXMATCH -MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019346 LEXMATCH -MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:812 LEXMATCH -MONDO:0019347 peeling skin syndrome skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:817 LEXMATCH -MONDO:0019347 peeling skin syndrome skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7347 LEXMATCH -MONDO:0019347 peeling skin syndrome skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019347 LEXMATCH -MONDO:0019347 peeling skin syndrome skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019347 LEXMATCH -MONDO:0019347 peeling skin syndrome skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:817 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064387 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175695 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:821 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10091 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:117550 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019349 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019349 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:117550 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:821 LEXMATCH -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:117550 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019904 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037889 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:822 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6639 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019350 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019350 LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:822 LEXMATCH -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041524 LEXMATCH -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:823 LEXMATCH -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7673 LEXMATCH -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019351 LEXMATCH -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019351 LEXMATCH -MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:823 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062766 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271093 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:827 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:181 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019353 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019353 LEXMATCH -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:827 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063402 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265253 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:828 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10782 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019354 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019354 LEXMATCH -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:828 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058493 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085253 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:829 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:436 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019355 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019355 LEXMATCH -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:829 LEXMATCH -MONDO:0019356 urogenital tract malformation skos:closeMatch Orphanet:83001 Urogenital tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19029 LEXMATCH -MONDO:0019356 urogenital tract malformation skos:closeMatch Orphanet:83001 Urogenital tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019356 LEXMATCH -MONDO:0019356 urogenital tract malformation skos:closeMatch Orphanet:83001 Urogenital tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019356 LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:831 LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18706 LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cervical spinal stenosis LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019357 LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019357 LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:831 LEXMATCH -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:833 LEXMATCH -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16549 LEXMATCH -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019358 LEXMATCH -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019358 LEXMATCH -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:833 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039207 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035793 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83311 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7585 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019359 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019359 LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83311 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039137 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035597 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83312 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19030 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019360 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019360 LEXMATCH -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83312 LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014979 LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83314 LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19032 LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019362 LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019362 LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83314 LEXMATCH -MONDO:0019364 pseudotyphus of California skos:closeMatch Orphanet:83316 Pseudotyphus of California semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83316 LEXMATCH -MONDO:0019364 pseudotyphus of California skos:closeMatch Orphanet:83316 Pseudotyphus of California semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19034 LEXMATCH -MONDO:0019364 pseudotyphus of California skos:closeMatch Orphanet:83316 Pseudotyphus of California semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019364 LEXMATCH -MONDO:0019364 pseudotyphus of California skos:closeMatch Orphanet:83316 Pseudotyphus of California semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019364 LEXMATCH -MONDO:0019364 pseudotyphus of California skos:closeMatch Orphanet:83316 Pseudotyphus of California semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83316 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039766 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036472 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83317 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19035 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019365 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019365 LEXMATCH -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83317 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931872 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:834 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10870 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019366 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019366 LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:834 LEXMATCH -MONDO:0019367 regional odontodysplasia skos:closeMatch Orphanet:83450 Regional odontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83450 LEXMATCH -MONDO:0019367 regional odontodysplasia skos:closeMatch Orphanet:83450 Regional odontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19036 LEXMATCH -MONDO:0019367 regional odontodysplasia skos:closeMatch Orphanet:83450 Regional odontodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019367 LEXMATCH -MONDO:0019367 regional odontodysplasia skos:closeMatch Orphanet:83450 Regional odontodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019367 LEXMATCH -MONDO:0019367 regional odontodysplasia skos:closeMatch Orphanet:83450 Regional odontodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83450 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83451 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10173 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019368 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019368 LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83451 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064332 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0458219 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83452 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4647 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019369 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019369 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83452 LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy LEXMATCH -MONDO:0019370 vulvovaginal gingival syndrome skos:closeMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83453 LEXMATCH -MONDO:0019370 vulvovaginal gingival syndrome skos:closeMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19037 LEXMATCH -MONDO:0019370 vulvovaginal gingival syndrome skos:closeMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019370 LEXMATCH -MONDO:0019370 vulvovaginal gingival syndrome skos:closeMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019370 LEXMATCH -MONDO:0019370 vulvovaginal gingival syndrome skos:closeMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83453 LEXMATCH -MONDO:0019371 narcolepsy without cataplexy skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83465 LEXMATCH -MONDO:0019371 narcolepsy without cataplexy skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19038 LEXMATCH -MONDO:0019371 narcolepsy without cataplexy skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019371 LEXMATCH -MONDO:0019371 narcolepsy without cataplexy skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019371 LEXMATCH -MONDO:0019371 narcolepsy without cataplexy skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83465 LEXMATCH -MONDO:0019372 solitary bone cyst skos:closeMatch Orphanet:83468 Solitary bone cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83468 LEXMATCH -MONDO:0019372 solitary bone cyst skos:closeMatch Orphanet:83468 Solitary bone cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19039 LEXMATCH -MONDO:0019372 solitary bone cyst skos:closeMatch Orphanet:83468 Solitary bone cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019372 LEXMATCH -MONDO:0019372 solitary bone cyst skos:closeMatch Orphanet:83468 Solitary bone cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019372 LEXMATCH -MONDO:0019372 solitary bone cyst skos:closeMatch Orphanet:83468 Solitary bone cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83468 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064581 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0281508 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83469 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6265 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019373 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019373 LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83469 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606937 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847114 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83472 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9977 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019374 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019374 LEXMATCH -MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83472 LEXMATCH -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83473 LEXMATCH -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10341 LEXMATCH -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019375 LEXMATCH -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019375 LEXMATCH -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83473 LEXMATCH -MONDO:0019376 West-Nile encephalitis skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83476 LEXMATCH -MONDO:0019376 West-Nile encephalitis skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9959 LEXMATCH -MONDO:0019376 West-Nile encephalitis skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019376 LEXMATCH -MONDO:0019376 West-Nile encephalitis skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019376 LEXMATCH -MONDO:0019376 West-Nile encephalitis skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83476 LEXMATCH -MONDO:0019377 Mycoplasma encephalitis skos:closeMatch Orphanet:83482 Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83482 LEXMATCH -MONDO:0019377 Mycoplasma encephalitis skos:closeMatch Orphanet:83482 Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19040 LEXMATCH -MONDO:0019377 Mycoplasma encephalitis skos:closeMatch Orphanet:83482 Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019377 LEXMATCH -MONDO:0019377 Mycoplasma encephalitis skos:closeMatch Orphanet:83482 Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019377 LEXMATCH -MONDO:0019377 Mycoplasma encephalitis skos:closeMatch Orphanet:83482 Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83482 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014584 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014053 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83483 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10925 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019378 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019378 LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83483 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014614 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153064 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83593 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7888 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019380 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019380 LEXMATCH -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83593 LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014059 LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83597 LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8639 LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019383 LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019383 LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83597 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052369 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014040 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83600 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6332 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019384 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019384 LEXMATCH -MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83600 LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393639 LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83601 LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8570 LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto encephalitis LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019385 LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019385 LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83601 LEXMATCH -MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83616 LEXMATCH -MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19043 LEXMATCH -MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubella panencephalitis LEXMATCH -MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019386 LEXMATCH -MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019386 LEXMATCH -MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83616 LEXMATCH -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:closeMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83619 LEXMATCH -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:closeMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19044 LEXMATCH -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:closeMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019387 LEXMATCH -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:closeMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019387 LEXMATCH -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:closeMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83619 LEXMATCH -MONDO:0019388 pelvis syndrome skos:closeMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83628 LEXMATCH -MONDO:0019388 pelvis syndrome skos:closeMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19045 LEXMATCH -MONDO:0019388 pelvis syndrome skos:closeMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019388 LEXMATCH -MONDO:0019388 pelvis syndrome skos:closeMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019388 LEXMATCH -MONDO:0019388 pelvis syndrome skos:closeMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83628 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071573 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717757 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:838 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7713 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019390 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019390 LEXMATCH -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:838 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055206 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015625 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6425 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019391 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019391 LEXMATCH -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042926 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406803 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:840 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5100 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019392 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019392 LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:840 LEXMATCH -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:closeMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84065 LEXMATCH -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:closeMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19046 LEXMATCH -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:closeMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019393 LEXMATCH -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:closeMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019393 LEXMATCH -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:closeMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84065 LEXMATCH -MONDO:0019394 Senior-Boichis syndrome skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84081 LEXMATCH -MONDO:0019394 Senior-Boichis syndrome skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16730 LEXMATCH -MONDO:0019394 Senior-Boichis syndrome skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019394 LEXMATCH -MONDO:0019394 Senior-Boichis syndrome skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019394 LEXMATCH -MONDO:0019394 Senior-Boichis syndrome skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84081 LEXMATCH -MONDO:0019395 Hinman syndrome skos:closeMatch Orphanet:84085 Hinman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84085 LEXMATCH -MONDO:0019395 Hinman syndrome skos:closeMatch Orphanet:84085 Hinman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19047 LEXMATCH -MONDO:0019395 Hinman syndrome skos:closeMatch Orphanet:84085 Hinman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019395 LEXMATCH -MONDO:0019395 Hinman syndrome skos:closeMatch Orphanet:84085 Hinman syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019395 LEXMATCH -MONDO:0019395 Hinman syndrome skos:closeMatch Orphanet:84085 Hinman syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84085 LEXMATCH -MONDO:0019396 collagen type III glomerulopathy skos:closeMatch Orphanet:84087 Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84087 LEXMATCH -MONDO:0019396 collagen type III glomerulopathy skos:closeMatch Orphanet:84087 Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19048 LEXMATCH -MONDO:0019396 collagen type III glomerulopathy skos:closeMatch Orphanet:84087 Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019396 LEXMATCH -MONDO:0019396 collagen type III glomerulopathy skos:closeMatch Orphanet:84087 Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019396 LEXMATCH -MONDO:0019396 collagen type III glomerulopathy skos:closeMatch Orphanet:84087 Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84087 LEXMATCH -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84132 LEXMATCH -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16732 LEXMATCH -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019398 LEXMATCH -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019398 LEXMATCH -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84132 LEXMATCH -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:84142 LEXMATCH -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6793 LEXMATCH -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019399 LEXMATCH -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019399 LEXMATCH -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:84142 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043391 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:848 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:871 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019402 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019402 LEXMATCH -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:848 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002876 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1999 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019403 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019403 LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85 LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft tissue perineurioma LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751691 LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85102 LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12698 LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019404 LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019404 LEXMATCH -MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85102 LEXMATCH -MONDO:0019405 facial onset sensory and motor neuronopathy skos:closeMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85162 LEXMATCH -MONDO:0019405 facial onset sensory and motor neuronopathy skos:closeMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12036 LEXMATCH -MONDO:0019405 facial onset sensory and motor neuronopathy skos:closeMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019405 LEXMATCH -MONDO:0019405 facial onset sensory and motor neuronopathy skos:closeMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019405 LEXMATCH -MONDO:0019405 facial onset sensory and motor neuronopathy skos:closeMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85162 LEXMATCH -MONDO:0019406 craniofacial conodysplasia skos:closeMatch Orphanet:85168 Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85168 LEXMATCH -MONDO:0019406 craniofacial conodysplasia skos:closeMatch Orphanet:85168 Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19049 LEXMATCH -MONDO:0019406 craniofacial conodysplasia skos:closeMatch Orphanet:85168 Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019406 LEXMATCH -MONDO:0019406 craniofacial conodysplasia skos:closeMatch Orphanet:85168 Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019406 LEXMATCH -MONDO:0019406 craniofacial conodysplasia skos:closeMatch Orphanet:85168 Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85168 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618150 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85172 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16736 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019407 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019407 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618150 LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85172 LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300228 LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85175 LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19050 LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019408 LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019408 LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85175 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259750 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615221 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85193 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15218 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6760 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019409 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019409 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259750 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85193 LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:615221 LEXMATCH -MONDO:0019411 genochondromatosis type 1 skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85197 LEXMATCH -MONDO:0019411 genochondromatosis type 1 skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16741 LEXMATCH -MONDO:0019411 genochondromatosis type 1 skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019411 LEXMATCH -MONDO:0019411 genochondromatosis type 1 skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019411 LEXMATCH -MONDO:0019411 genochondromatosis type 1 skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85197 LEXMATCH -MONDO:0019412 dysspondyloenchondromatosis skos:closeMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85198 LEXMATCH -MONDO:0019412 dysspondyloenchondromatosis skos:closeMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19051 LEXMATCH -MONDO:0019412 dysspondyloenchondromatosis skos:closeMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019412 LEXMATCH -MONDO:0019412 dysspondyloenchondromatosis skos:closeMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019412 LEXMATCH -MONDO:0019412 dysspondyloenchondromatosis skos:closeMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85198 LEXMATCH -MONDO:0019413 ischio-vertebral syndrome skos:closeMatch Orphanet:85200 Ischiovertebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85200 LEXMATCH -MONDO:0019413 ischio-vertebral syndrome skos:closeMatch Orphanet:85200 Ischiovertebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19052 LEXMATCH -MONDO:0019413 ischio-vertebral syndrome skos:closeMatch Orphanet:85200 Ischiovertebral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019413 LEXMATCH -MONDO:0019413 ischio-vertebral syndrome skos:closeMatch Orphanet:85200 Ischiovertebral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019413 LEXMATCH -MONDO:0019413 ischio-vertebral syndrome skos:closeMatch Orphanet:85200 Ischiovertebral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85200 LEXMATCH -MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502469 LEXMATCH -MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85284 LEXMATCH -MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16746 LEXMATCH -MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019414 LEXMATCH -MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019414 LEXMATCH -MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85284 LEXMATCH -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:853 LEXMATCH -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2295 LEXMATCH -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019415 LEXMATCH -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019415 LEXMATCH -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:853 LEXMATCH -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:closeMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85317 LEXMATCH -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:closeMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19053 LEXMATCH -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:closeMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019416 LEXMATCH -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:closeMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019416 LEXMATCH -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:closeMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85317 LEXMATCH -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:closeMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85319 LEXMATCH -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:closeMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19054 LEXMATCH -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:closeMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019418 LEXMATCH -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:closeMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019418 LEXMATCH -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:closeMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85319 LEXMATCH -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:closeMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85320 LEXMATCH -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:closeMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19055 LEXMATCH -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:closeMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019419 LEXMATCH -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:closeMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019419 LEXMATCH -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:closeMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85320 LEXMATCH -MONDO:0019420 X-linked intellectual disability, Pai type skos:closeMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85322 LEXMATCH -MONDO:0019420 X-linked intellectual disability, Pai type skos:closeMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19056 LEXMATCH -MONDO:0019420 X-linked intellectual disability, Pai type skos:closeMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019420 LEXMATCH -MONDO:0019420 X-linked intellectual disability, Pai type skos:closeMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019420 LEXMATCH -MONDO:0019420 X-linked intellectual disability, Pai type skos:closeMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85322 LEXMATCH -MONDO:0019421 X-linked intellectual disability, Seemanova type skos:closeMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85323 LEXMATCH -MONDO:0019421 X-linked intellectual disability, Seemanova type skos:closeMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19057 LEXMATCH -MONDO:0019421 X-linked intellectual disability, Seemanova type skos:closeMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019421 LEXMATCH -MONDO:0019421 X-linked intellectual disability, Seemanova type skos:closeMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019421 LEXMATCH -MONDO:0019421 X-linked intellectual disability, Seemanova type skos:closeMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85323 LEXMATCH -MONDO:0019422 X-linked intellectual disability, Stevenson type skos:closeMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85325 LEXMATCH -MONDO:0019422 X-linked intellectual disability, Stevenson type skos:closeMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19058 LEXMATCH -MONDO:0019422 X-linked intellectual disability, Stevenson type skos:closeMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019422 LEXMATCH -MONDO:0019422 X-linked intellectual disability, Stevenson type skos:closeMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019422 LEXMATCH -MONDO:0019422 X-linked intellectual disability, Stevenson type skos:closeMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85325 LEXMATCH -MONDO:0019423 X-linked intellectual disability, Stoll type skos:closeMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85326 LEXMATCH -MONDO:0019423 X-linked intellectual disability, Stoll type skos:closeMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19059 LEXMATCH -MONDO:0019423 X-linked intellectual disability, Stoll type skos:closeMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019423 LEXMATCH -MONDO:0019423 X-linked intellectual disability, Stoll type skos:closeMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019423 LEXMATCH -MONDO:0019423 X-linked intellectual disability, Stoll type skos:closeMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85326 LEXMATCH -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:closeMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85327 LEXMATCH -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:closeMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19060 LEXMATCH -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:closeMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019424 LEXMATCH -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:closeMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019424 LEXMATCH -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:closeMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85327 LEXMATCH -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:closeMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85334 LEXMATCH -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:closeMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19061 LEXMATCH -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:closeMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019427 LEXMATCH -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:closeMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019427 LEXMATCH -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:closeMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85334 LEXMATCH -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85335 LEXMATCH -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16753 LEXMATCH -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019428 LEXMATCH -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019428 LEXMATCH -MONDO:0019428 fried syndrome skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85335 LEXMATCH -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:closeMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85336 LEXMATCH -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:closeMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19062 LEXMATCH -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:closeMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019429 LEXMATCH -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:closeMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019429 LEXMATCH -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:closeMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85336 LEXMATCH -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:closeMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85338 LEXMATCH -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:closeMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19063 LEXMATCH -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:closeMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019430 LEXMATCH -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:closeMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019430 LEXMATCH -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:closeMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85338 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036206 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:854 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18707 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019431 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019431 LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:854 LEXMATCH -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85408 LEXMATCH -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3931 LEXMATCH -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019432 LEXMATCH -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019432 LEXMATCH -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85408 LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931171 LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85410 LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4261 LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019433 LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019433 LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85410 LEXMATCH -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85414 LEXMATCH -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10966 LEXMATCH -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019434 LEXMATCH -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019434 LEXMATCH -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85414 LEXMATCH -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85435 LEXMATCH -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19064 LEXMATCH -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019435 LEXMATCH -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019435 LEXMATCH -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85435 LEXMATCH -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85436 LEXMATCH -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10970 LEXMATCH -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019436 LEXMATCH -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019436 LEXMATCH -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85436 LEXMATCH -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85438 LEXMATCH -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10969 LEXMATCH -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019437 LEXMATCH -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019437 LEXMATCH -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85438 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036673 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85443 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5797 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019438 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019438 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85443 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039811 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221014 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85445 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10560 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019439 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019439 LEXMATCH -MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85445 LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85446 LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19065 LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019440 LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019440 LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:closeMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85446 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85451 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16755 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019441 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019441 LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85451 LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:860 LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5476 LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019443 LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019443 LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:860 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044608 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014235 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:863 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5250 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019444 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019444 LEXMATCH -MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:863 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044611 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536553 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334262 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:864 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5263 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019445 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019445 LEXMATCH -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:864 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86795 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7321 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019446 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019446 LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86795 LEXMATCH -MONDO:0019447 atypical lichen myxedematosus skos:closeMatch Orphanet:86797 Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86797 LEXMATCH -MONDO:0019447 atypical lichen myxedematosus skos:closeMatch Orphanet:86797 Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19066 LEXMATCH -MONDO:0019447 atypical lichen myxedematosus skos:closeMatch Orphanet:86797 Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019447 LEXMATCH -MONDO:0019447 atypical lichen myxedematosus skos:closeMatch Orphanet:86797 Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019447 LEXMATCH -MONDO:0019447 atypical lichen myxedematosus skos:closeMatch Orphanet:86797 Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86797 LEXMATCH -MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86814 LEXMATCH -MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16758 LEXMATCH -MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019448 LEXMATCH -MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019448 LEXMATCH -MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86814 LEXMATCH -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:closeMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86821 LEXMATCH -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:closeMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19067 LEXMATCH -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:closeMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019449 LEXMATCH -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:closeMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019449 LEXMATCH -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:closeMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86821 LEXMATCH -MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19068 LEXMATCH -MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019450 LEXMATCH -MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019450 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023481 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86829 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10585 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019451 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019451 LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86829 LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86830 LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16764 LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019452 LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019452 LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86830 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067959 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796466 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86836 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19069 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019453 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019453 LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86836 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038270 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86839 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19070 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019454 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019454 LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86839 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000879 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334674 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86843 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11907 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019455 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019455 LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86843 LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292773 LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86845 LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12761 LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myeloid leukaemia with myelodysplasia-related features LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019456 LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019456 LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86845 LEXMATCH -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86846 LEXMATCH -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12762 LEXMATCH -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019457 LEXMATCH -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019457 LEXMATCH -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86846 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86849 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19071 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019458 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019458 LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86849 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301357 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86851 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8638 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019460 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019460 LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86851 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475801 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86852 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8223 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019461 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019461 LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86852 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062113 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349632 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86854 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19072 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019462 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019462 LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86854 LEXMATCH -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:closeMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86861 LEXMATCH -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:closeMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19073 LEXMATCH -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:closeMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019463 LEXMATCH -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:closeMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019463 LEXMATCH -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:closeMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86861 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019350 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018852 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86864 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19074 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019464 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019464 LEXMATCH -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86864 LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029460 LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86867 LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19075 LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019465 LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019465 LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86867 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025325 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024307 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86869 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6943 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019466 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019466 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86869 LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:closeMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86870 LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:closeMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10556 LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:closeMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019467 LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:closeMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019467 LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:closeMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86870 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042985 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363142 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86871 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13731 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019468 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019468 LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86871 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label large granular lymphocyte leukemia LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065862 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955861 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86872 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9812 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019469 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019469 LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86872 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028811 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292777 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86873 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10493 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019470 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019470 LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86873 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001413 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86875 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19076 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019471 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019471 LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86875 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065855 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392788 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86879 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7041 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019472 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019472 LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86879 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022703 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0456889 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86880 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9809 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019473 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019473 LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86880 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066957 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333984 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86882 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19077 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019474 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019474 LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86882 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618398 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86884 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10193 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019475 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019475 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618398 LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86884 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034623 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86885 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19078 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019476 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019476 LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86885 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334663 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86896 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19080 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019479 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019479 LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86896 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054752 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260327 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86897 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10491 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019480 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019480 LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86897 LEXMATCH -MONDO:0019482 dendritic cell sarcoma not otherwise specified skos:closeMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86903 LEXMATCH -MONDO:0019482 dendritic cell sarcoma not otherwise specified skos:closeMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19082 LEXMATCH -MONDO:0019482 dendritic cell sarcoma not otherwise specified skos:closeMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019482 LEXMATCH -MONDO:0019482 dendritic cell sarcoma not otherwise specified skos:closeMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019482 LEXMATCH -MONDO:0019482 dendritic cell sarcoma not otherwise specified skos:closeMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86903 LEXMATCH -MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:closeMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86904 LEXMATCH -MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:closeMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19083 LEXMATCH -MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:closeMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019483 LEXMATCH -MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:closeMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019483 LEXMATCH -MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:closeMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86904 LEXMATCH -MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:closeMatch Orphanet:86906 Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86906 LEXMATCH -MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:closeMatch Orphanet:86906 Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19084 LEXMATCH -MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:closeMatch Orphanet:86906 Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019484 LEXMATCH -MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:closeMatch Orphanet:86906 Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019484 LEXMATCH -MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:closeMatch Orphanet:86906 Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86906 LEXMATCH -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86908 LEXMATCH -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19085 LEXMATCH -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019485 LEXMATCH -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019485 LEXMATCH -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86908 LEXMATCH -MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86911 LEXMATCH -MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19087 LEXMATCH -MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019487 LEXMATCH -MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019487 LEXMATCH -MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86911 LEXMATCH -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:closeMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86913 LEXMATCH -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:closeMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19088 LEXMATCH -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:closeMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019488 LEXMATCH -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:closeMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019488 LEXMATCH -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:closeMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86913 LEXMATCH -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:closeMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86918 LEXMATCH -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:closeMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19089 LEXMATCH -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:closeMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019489 LEXMATCH -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:closeMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019489 LEXMATCH -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:closeMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86918 LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:871 LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10005 LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary bundle branch defect LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial progressive cardiac conduction defect LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019490 LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019490 LEXMATCH -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:871 LEXMATCH -MONDO:0019493 primary adult heart tumor skos:closeMatch Orphanet:874 Primary adult heart tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:874 LEXMATCH -MONDO:0019493 primary adult heart tumor skos:closeMatch Orphanet:874 Primary adult heart tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18709 LEXMATCH -MONDO:0019493 primary adult heart tumor skos:closeMatch Orphanet:874 Primary adult heart tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019493 LEXMATCH -MONDO:0019493 primary adult heart tumor skos:closeMatch Orphanet:874 Primary adult heart tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019493 LEXMATCH -MONDO:0019493 primary adult heart tumor skos:closeMatch Orphanet:874 Primary adult heart tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:874 LEXMATCH -MONDO:0019494 primary pediatric heart tumor skos:closeMatch Orphanet:875 Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:875 LEXMATCH -MONDO:0019494 primary pediatric heart tumor skos:closeMatch Orphanet:875 Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18710 LEXMATCH -MONDO:0019494 primary pediatric heart tumor skos:closeMatch Orphanet:875 Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019494 LEXMATCH -MONDO:0019494 primary pediatric heart tumor skos:closeMatch Orphanet:875 Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019494 LEXMATCH -MONDO:0019494 primary pediatric heart tumor skos:closeMatch Orphanet:875 Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:875 LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206754 LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:877 LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9316 LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019496 LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019496 LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:877 LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:87884 LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19091 LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated genetic deafness LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-syndromic genetic deafness LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019497 LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019497 LEXMATCH -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:87884 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0277356 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:879 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:393 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019498 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019498 LEXMATCH -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:879 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:881 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7831 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019499 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019499 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:881 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 LEXMATCH -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043276 LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:883 LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18711 LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019500 LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019500 LEXMATCH -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:883 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:886 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7843 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019501 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019501 LEXMATCH -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:886 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88616 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18643 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019502 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019502 LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88616 LEXMATCH -MONDO:0019503 anterior segment dysgenesis skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88632 LEXMATCH -MONDO:0019503 anterior segment dysgenesis skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10025 LEXMATCH -MONDO:0019503 anterior segment dysgenesis skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019503 LEXMATCH -MONDO:0019503 anterior segment dysgenesis skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019503 LEXMATCH -MONDO:0019503 anterior segment dysgenesis skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88632 LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339229 LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88633 LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10940 LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019504 LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019504 LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88633 LEXMATCH -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:closeMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88643 LEXMATCH -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:closeMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19092 LEXMATCH -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:closeMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019506 LEXMATCH -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:closeMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019506 LEXMATCH -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:closeMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88643 LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88661 LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5791 LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019507 LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019507 LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88661 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604547 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175697 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:888 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8414 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019508 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019508 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:888 LEXMATCH -MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref omim:604547 LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:closeMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:889 LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:closeMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7851 LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:closeMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019509 LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:closeMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019509 LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:closeMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:889 LEXMATCH -MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88991 LEXMATCH -MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19094 LEXMATCH -MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital non-syndromic heart malformation LEXMATCH -MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019512 LEXMATCH -MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019512 LEXMATCH -MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88991 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047216 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019156 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:890 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13004 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019514 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019514 LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:890 LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:891 LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1613 LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019516 LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019516 LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:891 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2700265 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:895 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5520 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019517 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019517 LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:895 LEXMATCH -MONDO:0019518 Waardenburg-Shah syndrome skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:897 LEXMATCH -MONDO:0019518 Waardenburg-Shah syndrome skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5524 LEXMATCH -MONDO:0019518 Waardenburg-Shah syndrome skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019518 LEXMATCH -MONDO:0019518 Waardenburg-Shah syndrome skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019518 LEXMATCH -MONDO:0019518 Waardenburg-Shah syndrome skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:897 LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:closeMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89842 LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:closeMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12794 LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:closeMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019522 LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:closeMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019522 LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:closeMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89842 LEXMATCH -MONDO:0019524 Bartter syndrome type 4 skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:89938 LEXMATCH -MONDO:0019524 Bartter syndrome type 4 skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10508 LEXMATCH -MONDO:0019524 Bartter syndrome type 4 skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019524 LEXMATCH -MONDO:0019524 Bartter syndrome type 4 skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019524 LEXMATCH -MONDO:0019524 Bartter syndrome type 4 skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:89938 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265496 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:9 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7754 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019525 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019525 LEXMATCH -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:9 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263398 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90000 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8653 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019526 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019526 LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90000 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071575 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409999 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90002 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19097 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019527 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019527 LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90002 LEXMATCH -MONDO:0019528 inflammatory pseudotumor of the liver skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90003 LEXMATCH -MONDO:0019528 inflammatory pseudotumor of the liver skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19098 LEXMATCH -MONDO:0019528 inflammatory pseudotumor of the liver skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019528 LEXMATCH -MONDO:0019528 inflammatory pseudotumor of the liver skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019528 LEXMATCH -MONDO:0019528 inflammatory pseudotumor of the liver skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90003 LEXMATCH -MONDO:0019529 radiation myelitis skos:closeMatch Orphanet:90021 Radiation myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90021 LEXMATCH -MONDO:0019529 radiation myelitis skos:closeMatch Orphanet:90021 Radiation myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19099 LEXMATCH -MONDO:0019529 radiation myelitis skos:closeMatch Orphanet:90021 Radiation myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019529 LEXMATCH -MONDO:0019529 radiation myelitis skos:closeMatch Orphanet:90021 Radiation myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019529 LEXMATCH -MONDO:0019529 radiation myelitis skos:closeMatch Orphanet:90021 Radiation myelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90021 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90025 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19100 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019530 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019530 LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90025 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618660 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90030 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18089 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16784 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019531 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019531 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618660 LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90030 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047822 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272118 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90033 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7876 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019532 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019532 LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90033 LEXMATCH -MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90035 LEXMATCH -MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7335 LEXMATCH -MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019533 LEXMATCH -MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019533 LEXMATCH -MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90035 LEXMATCH -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90036 LEXMATCH -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19101 LEXMATCH -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019534 LEXMATCH -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019534 LEXMATCH -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90036 LEXMATCH -MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:closeMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90037 LEXMATCH -MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:closeMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19102 LEXMATCH -MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:closeMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019535 LEXMATCH -MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:closeMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019535 LEXMATCH -MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:closeMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90037 LEXMATCH -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90038 LEXMATCH -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6588 LEXMATCH -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019536 LEXMATCH -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019536 LEXMATCH -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90038 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055019 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272080 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90039 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19103 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019537 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019537 LEXMATCH -MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90039 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042217 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053885 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0541719 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90041 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19104 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019538 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019538 LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90041 LEXMATCH -MONDO:0019540 diffuse alveolar hemorrhage skos:closeMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90060 LEXMATCH -MONDO:0019540 diffuse alveolar hemorrhage skos:closeMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19110 LEXMATCH -MONDO:0019540 diffuse alveolar hemorrhage skos:closeMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019540 LEXMATCH -MONDO:0019540 diffuse alveolar hemorrhage skos:closeMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019540 LEXMATCH -MONDO:0019540 diffuse alveolar hemorrhage skos:closeMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90060 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000804 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90062 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19112 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019542 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019542 LEXMATCH -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90062 LEXMATCH -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:closeMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90065 LEXMATCH -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:closeMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19114 LEXMATCH -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:closeMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019543 LEXMATCH -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:closeMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019543 LEXMATCH -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:closeMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90065 LEXMATCH -MONDO:0019544 cocaine intoxication skos:closeMatch Orphanet:90068 Cocaine intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90068 LEXMATCH -MONDO:0019544 cocaine intoxication skos:closeMatch Orphanet:90068 Cocaine intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19115 LEXMATCH -MONDO:0019544 cocaine intoxication skos:closeMatch Orphanet:90068 Cocaine intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019544 LEXMATCH -MONDO:0019544 cocaine intoxication skos:closeMatch Orphanet:90068 Cocaine intoxication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019544 LEXMATCH -MONDO:0019544 cocaine intoxication skos:closeMatch Orphanet:90068 Cocaine intoxication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90068 LEXMATCH -MONDO:0019545 systemic monochloroacetate poisoning skos:closeMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90069 LEXMATCH -MONDO:0019545 systemic monochloroacetate poisoning skos:closeMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19116 LEXMATCH -MONDO:0019545 systemic monochloroacetate poisoning skos:closeMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019545 LEXMATCH -MONDO:0019545 systemic monochloroacetate poisoning skos:closeMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019545 LEXMATCH -MONDO:0019545 systemic monochloroacetate poisoning skos:closeMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90069 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343101 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:901 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:329 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019547 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019547 LEXMATCH -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:901 LEXMATCH -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90114 LEXMATCH -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12436 LEXMATCH -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019548 LEXMATCH -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019548 LEXMATCH -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:closeMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90114 LEXMATCH -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:closeMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90118 LEXMATCH -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:closeMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19123 LEXMATCH -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:closeMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019549 LEXMATCH -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:closeMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019549 LEXMATCH -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:closeMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90118 LEXMATCH -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:closeMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90119 LEXMATCH -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:closeMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19124 LEXMATCH -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:closeMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019550 LEXMATCH -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:closeMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019550 LEXMATCH -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:closeMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90119 LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393807 LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90120 LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16787 LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019551 LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019551 LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90120 LEXMATCH -MONDO:0019552 centrifugal lipodystrophy skos:closeMatch Orphanet:90156 Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90156 LEXMATCH -MONDO:0019552 centrifugal lipodystrophy skos:closeMatch Orphanet:90156 Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19125 LEXMATCH -MONDO:0019552 centrifugal lipodystrophy skos:closeMatch Orphanet:90156 Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019552 LEXMATCH -MONDO:0019552 centrifugal lipodystrophy skos:closeMatch Orphanet:90156 Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019552 LEXMATCH -MONDO:0019552 centrifugal lipodystrophy skos:closeMatch Orphanet:90156 Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90156 LEXMATCH -MONDO:0019553 drug-induced localized lipodystrophy skos:closeMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90157 LEXMATCH -MONDO:0019553 drug-induced localized lipodystrophy skos:closeMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19126 LEXMATCH -MONDO:0019553 drug-induced localized lipodystrophy skos:closeMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019553 LEXMATCH -MONDO:0019553 drug-induced localized lipodystrophy skos:closeMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019553 LEXMATCH -MONDO:0019553 drug-induced localized lipodystrophy skos:closeMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90157 LEXMATCH -MONDO:0019554 idiopathic localized lipodystrophy skos:closeMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90158 LEXMATCH -MONDO:0019554 idiopathic localized lipodystrophy skos:closeMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19127 LEXMATCH -MONDO:0019554 idiopathic localized lipodystrophy skos:closeMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019554 LEXMATCH -MONDO:0019554 idiopathic localized lipodystrophy skos:closeMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019554 LEXMATCH -MONDO:0019554 idiopathic localized lipodystrophy skos:closeMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90158 LEXMATCH -MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90159 LEXMATCH -MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19128 LEXMATCH -MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panniculitis-induced localized lipodystrophy LEXMATCH -MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019555 LEXMATCH -MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019555 LEXMATCH -MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90159 LEXMATCH -MONDO:0019556 pressure-induced localized lipoatrophy skos:closeMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90160 LEXMATCH -MONDO:0019556 pressure-induced localized lipoatrophy skos:closeMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19129 LEXMATCH -MONDO:0019556 pressure-induced localized lipoatrophy skos:closeMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019556 LEXMATCH -MONDO:0019556 pressure-induced localized lipoatrophy skos:closeMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019556 LEXMATCH -MONDO:0019556 pressure-induced localized lipoatrophy skos:closeMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90160 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025141 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024145 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90280 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19130 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019557 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019557 LEXMATCH -MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90280 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013072 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024138 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90281 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19131 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019558 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019558 LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90281 LEXMATCH -MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:closeMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90282 LEXMATCH -MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:closeMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19132 LEXMATCH -MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:closeMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019559 LEXMATCH -MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:closeMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019559 LEXMATCH -MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:closeMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90282 LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406636 LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90283 LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13003 LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019560 LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019560 LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90283 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030327 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90285 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19133 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019561 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019561 LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90285 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039712 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036420 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90289 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7058 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019562 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019562 LEXMATCH -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90289 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047715 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042974 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:903 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7867 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019565 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019565 LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:903 LEXMATCH -MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130000 LEXMATCH -MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130000 LEXMATCH -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 LEXMATCH -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130010 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751039 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90321 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15154 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1415 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019569 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019569 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90321 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90322 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15154 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019569 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90324 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15154 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019569 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90321 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15067 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019570 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751038 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90322 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15067 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1420 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019570 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019570 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90322 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90324 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15067 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019570 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133540 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:133540 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268350 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90348 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1639 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019571 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019571 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90348 LEXMATCH -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90349 LEXMATCH -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8480 LEXMATCH -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019572 LEXMATCH -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019572 LEXMATCH -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90349 LEXMATCH -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90350 LEXMATCH -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19134 LEXMATCH -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019573 LEXMATCH -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019573 LEXMATCH -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90350 LEXMATCH -MONDO:0019574 secondary intestinal lymphangiectasia skos:closeMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90363 LEXMATCH -MONDO:0019574 secondary intestinal lymphangiectasia skos:closeMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19135 LEXMATCH -MONDO:0019574 secondary intestinal lymphangiectasia skos:closeMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019574 LEXMATCH -MONDO:0019574 secondary intestinal lymphangiectasia skos:closeMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019574 LEXMATCH -MONDO:0019574 secondary intestinal lymphangiectasia skos:closeMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90363 LEXMATCH -MONDO:0019575 hypotrichosis simplex of the scalp skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90368 LEXMATCH -MONDO:0019575 hypotrichosis simplex of the scalp skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16789 LEXMATCH -MONDO:0019575 hypotrichosis simplex of the scalp skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019575 LEXMATCH -MONDO:0019575 hypotrichosis simplex of the scalp skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019575 LEXMATCH -MONDO:0019575 hypotrichosis simplex of the scalp skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90368 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043192 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263402 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90389 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19136 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019576 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019576 LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90389 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90390 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:710 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019577 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019577 LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90390 LEXMATCH -MONDO:0019578 nodular lichen myxedematosus skos:closeMatch Orphanet:90393 Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90393 LEXMATCH -MONDO:0019578 nodular lichen myxedematosus skos:closeMatch Orphanet:90393 Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19137 LEXMATCH -MONDO:0019578 nodular lichen myxedematosus skos:closeMatch Orphanet:90393 Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019578 LEXMATCH -MONDO:0019578 nodular lichen myxedematosus skos:closeMatch Orphanet:90393 Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019578 LEXMATCH -MONDO:0019578 nodular lichen myxedematosus skos:closeMatch Orphanet:90393 Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90393 LEXMATCH -MONDO:0019579 discrete papular lichen myxedematosus skos:closeMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90394 LEXMATCH -MONDO:0019579 discrete papular lichen myxedematosus skos:closeMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19138 LEXMATCH -MONDO:0019579 discrete papular lichen myxedematosus skos:closeMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019579 LEXMATCH -MONDO:0019579 discrete papular lichen myxedematosus skos:closeMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019579 LEXMATCH -MONDO:0019579 discrete papular lichen myxedematosus skos:closeMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90394 LEXMATCH -MONDO:0019580 papular mucinosis of infancy skos:closeMatch Orphanet:90395 Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90395 LEXMATCH -MONDO:0019580 papular mucinosis of infancy skos:closeMatch Orphanet:90395 Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19139 LEXMATCH -MONDO:0019580 papular mucinosis of infancy skos:closeMatch Orphanet:90395 Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019580 LEXMATCH -MONDO:0019580 papular mucinosis of infancy skos:closeMatch Orphanet:90395 Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019580 LEXMATCH -MONDO:0019580 papular mucinosis of infancy skos:closeMatch Orphanet:90395 Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90395 LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406660 LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90396 LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19140 LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019581 LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019581 LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90396 LEXMATCH -MONDO:0019582 self-healing papular mucinosis skos:closeMatch Orphanet:90397 Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90397 LEXMATCH -MONDO:0019582 self-healing papular mucinosis skos:closeMatch Orphanet:90397 Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19141 LEXMATCH -MONDO:0019582 self-healing papular mucinosis skos:closeMatch Orphanet:90397 Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019582 LEXMATCH -MONDO:0019582 self-healing papular mucinosis skos:closeMatch Orphanet:90397 Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019582 LEXMATCH -MONDO:0019582 self-healing papular mucinosis skos:closeMatch Orphanet:90397 Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90397 LEXMATCH -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:closeMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90398 LEXMATCH -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:closeMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19142 LEXMATCH -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:closeMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019583 LEXMATCH -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:closeMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019583 LEXMATCH -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:closeMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90398 LEXMATCH -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:closeMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90399 LEXMATCH -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:closeMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19143 LEXMATCH -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:closeMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019584 LEXMATCH -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:closeMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019584 LEXMATCH -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:closeMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90399 LEXMATCH -MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:closeMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90400 LEXMATCH -MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:closeMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19144 LEXMATCH -MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:closeMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019585 LEXMATCH -MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:closeMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019585 LEXMATCH -MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:closeMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90400 LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90625 LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16790 LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated neurosensory deafness type dfn LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated sensorineural deafness type dfn LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory deafness type dfn LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019586 LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019586 LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90625 LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90635 LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16791 LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory deafness type dfna LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural deafness type dfna LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory deafness type dfna LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019587 LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019587 LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90635 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90635 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18117 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019588 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607197 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90636 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18644 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated neurosensory deafness type dfnb LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated sensorineural deafness type dfnb LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive non-syndromic neurosensory deafness type dfnb LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019588 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019588 LEXMATCH -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90636 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033662 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242343 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90695 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15020 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019591 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019591 LEXMATCH -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90695 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048220 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043346 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:910 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7910 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019600 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019600 LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:910 LEXMATCH -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:closeMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91136 LEXMATCH -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:closeMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19154 LEXMATCH -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:closeMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019604 LEXMATCH -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:closeMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019604 LEXMATCH -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:closeMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91136 LEXMATCH -MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:closeMatch Orphanet:91137 Immunotactoid or fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12741 LEXMATCH -MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:closeMatch Orphanet:91137 Immunotactoid or fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019605 LEXMATCH -MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:closeMatch Orphanet:91137 Immunotactoid or fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019605 LEXMATCH -MONDO:0019606 simple cryoglobulinemia skos:closeMatch Orphanet:91139 Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91139 LEXMATCH -MONDO:0019606 simple cryoglobulinemia skos:closeMatch Orphanet:91139 Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6217 LEXMATCH -MONDO:0019606 simple cryoglobulinemia skos:closeMatch Orphanet:91139 Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019606 LEXMATCH -MONDO:0019606 simple cryoglobulinemia skos:closeMatch Orphanet:91139 Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019606 LEXMATCH -MONDO:0019606 simple cryoglobulinemia skos:closeMatch Orphanet:91139 Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91139 LEXMATCH -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91140 LEXMATCH -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19155 LEXMATCH -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019607 LEXMATCH -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019607 LEXMATCH -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91140 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043459 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:912 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7917 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019609 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019609 LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:912 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017852 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043515 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:913 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7918 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019610 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019610 LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:913 LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346303 LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91347 LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19157 LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019611 LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019611 LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91347 LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346304 LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91348 LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19158 LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019612 LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019612 LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91348 LEXMATCH -MONDO:0019613 non-functioning pituitary adenoma skos:closeMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91349 LEXMATCH -MONDO:0019613 non-functioning pituitary adenoma skos:closeMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19159 LEXMATCH -MONDO:0019613 non-functioning pituitary adenoma skos:closeMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019613 LEXMATCH -MONDO:0019613 non-functioning pituitary adenoma skos:closeMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019613 LEXMATCH -MONDO:0019613 non-functioning pituitary adenoma skos:closeMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91349 LEXMATCH -MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:closeMatch Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91350 LEXMATCH -MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:closeMatch Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19160 LEXMATCH -MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:closeMatch Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019614 LEXMATCH -MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:closeMatch Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019614 LEXMATCH -MONDO:0019614 pituitary deficiency due to Rathke's pouch cysts skos:closeMatch Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91350 LEXMATCH -MONDO:0019615 pituitary dermoid and epidermoid cysts skos:closeMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91351 LEXMATCH -MONDO:0019615 pituitary dermoid and epidermoid cysts skos:closeMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19161 LEXMATCH -MONDO:0019615 pituitary dermoid and epidermoid cysts skos:closeMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019615 LEXMATCH -MONDO:0019615 pituitary dermoid and epidermoid cysts skos:closeMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019615 LEXMATCH -MONDO:0019615 pituitary dermoid and epidermoid cysts skos:closeMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91351 LEXMATCH -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:closeMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91354 LEXMATCH -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:closeMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19163 LEXMATCH -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:closeMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019617 LEXMATCH -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:closeMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019617 LEXMATCH -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:closeMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91354 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036297 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242342 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91355 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7630 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019618 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019618 LEXMATCH -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91355 LEXMATCH -MONDO:0019620 congenital esophageal diverticulum skos:closeMatch Orphanet:91358 Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91358 LEXMATCH -MONDO:0019620 congenital esophageal diverticulum skos:closeMatch Orphanet:91358 Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19165 LEXMATCH -MONDO:0019620 congenital esophageal diverticulum skos:closeMatch Orphanet:91358 Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019620 LEXMATCH -MONDO:0019620 congenital esophageal diverticulum skos:closeMatch Orphanet:91358 Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019620 LEXMATCH -MONDO:0019620 congenital esophageal diverticulum skos:closeMatch Orphanet:91358 Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91358 LEXMATCH -MONDO:0019621 chronic pneumonitis of infancy skos:closeMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91359 LEXMATCH -MONDO:0019621 chronic pneumonitis of infancy skos:closeMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19166 LEXMATCH -MONDO:0019621 chronic pneumonitis of infancy skos:closeMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019621 LEXMATCH -MONDO:0019621 chronic pneumonitis of infancy skos:closeMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019621 LEXMATCH -MONDO:0019621 chronic pneumonitis of infancy skos:closeMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91359 LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290344 LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91364 LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19167 LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019622 LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019622 LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91364 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019860 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019243 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91378 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5979 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019623 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019623 LEXMATCH -MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91378 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91385 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8605 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019624 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019624 LEXMATCH -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91385 LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392775 LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic medial necrosis of aorta LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91387 LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2249 LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019625 LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019625 LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91387 LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91397 LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19168 LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019626 LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019626 LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91397 LEXMATCH -MONDO:0019627 isolated congenital alacrima skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91416 LEXMATCH -MONDO:0019627 isolated congenital alacrima skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16799 LEXMATCH -MONDO:0019627 isolated congenital alacrima skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019627 LEXMATCH -MONDO:0019627 isolated congenital alacrima skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019627 LEXMATCH -MONDO:0019627 isolated congenital alacrima skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91416 LEXMATCH -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059198 LEXMATCH -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91483 LEXMATCH -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16482 LEXMATCH -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019628 LEXMATCH -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019628 LEXMATCH -MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91483 LEXMATCH -MONDO:0019629 sclerocornea skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91490 LEXMATCH -MONDO:0019629 sclerocornea skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16800 LEXMATCH -MONDO:0019629 sclerocornea skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019629 LEXMATCH -MONDO:0019629 sclerocornea skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019629 LEXMATCH -MONDO:0019629 sclerocornea skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91490 LEXMATCH -MONDO:0019630 congenital ectropion uveae skos:closeMatch Orphanet:91491 Congenital ectropion uveae semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91491 LEXMATCH -MONDO:0019630 congenital ectropion uveae skos:closeMatch Orphanet:91491 Congenital ectropion uveae semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19169 LEXMATCH -MONDO:0019630 congenital ectropion uveae skos:closeMatch Orphanet:91491 Congenital ectropion uveae semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019630 LEXMATCH -MONDO:0019630 congenital ectropion uveae skos:closeMatch Orphanet:91491 Congenital ectropion uveae semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019630 LEXMATCH -MONDO:0019630 congenital ectropion uveae skos:closeMatch Orphanet:91491 Congenital ectropion uveae semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91491 LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91495 LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16803 LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019631 LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019631 LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91495 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025169 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024198 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91546 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19170 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019632 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019632 LEXMATCH -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91546 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038300 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035021 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91547 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19171 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019633 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019633 LEXMATCH -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:91547 LEXMATCH -MONDO:0019634 familial nasal acilia skos:closeMatch Orphanet:922 Familial nasal acilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:922 LEXMATCH -MONDO:0019634 familial nasal acilia skos:closeMatch Orphanet:922 Familial nasal acilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2254 LEXMATCH -MONDO:0019634 familial nasal acilia skos:closeMatch Orphanet:922 Familial nasal acilia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019634 LEXMATCH -MONDO:0019634 familial nasal acilia skos:closeMatch Orphanet:922 Familial nasal acilia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019634 LEXMATCH -MONDO:0019634 familial nasal acilia skos:closeMatch Orphanet:922 Familial nasal acilia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:922 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036669 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0859976 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:930 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5708 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019635 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019635 LEXMATCH -MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:930 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053624 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266294 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93100 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16804 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019636 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019636 LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93100 LEXMATCH -MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049102 LEXMATCH -MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93101 LEXMATCH -MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19172 LEXMATCH -MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019637 LEXMATCH -MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019637 LEXMATCH -MONDO:0019637 renal hypoplasia skos:closeMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93101 LEXMATCH -MONDO:0019638 renal dysplasia skos:closeMatch Orphanet:93108 Renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93108 LEXMATCH -MONDO:0019638 renal dysplasia skos:closeMatch Orphanet:93108 Renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19173 LEXMATCH -MONDO:0019638 renal dysplasia skos:closeMatch Orphanet:93108 Renal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019638 LEXMATCH -MONDO:0019638 renal dysplasia skos:closeMatch Orphanet:93108 Renal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019638 LEXMATCH -MONDO:0019638 renal dysplasia skos:closeMatch Orphanet:93108 Renal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93108 LEXMATCH -MONDO:0019639 congenital megacalycosis skos:closeMatch Orphanet:93109 Congenital megacalycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93109 LEXMATCH -MONDO:0019639 congenital megacalycosis skos:closeMatch Orphanet:93109 Congenital megacalycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19174 LEXMATCH -MONDO:0019639 congenital megacalycosis skos:closeMatch Orphanet:93109 Congenital megacalycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019639 LEXMATCH -MONDO:0019639 congenital megacalycosis skos:closeMatch Orphanet:93109 Congenital megacalycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019639 LEXMATCH -MONDO:0019639 congenital megacalycosis skos:closeMatch Orphanet:93109 Congenital megacalycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93109 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036369 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238506 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93110 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7439 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019640 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019640 LEXMATCH -MONDO:0019640 posterior urethral valve skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93110 LEXMATCH -MONDO:0019641 Pauci-immune glomerulonephritis skos:closeMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93126 LEXMATCH -MONDO:0019641 Pauci-immune glomerulonephritis skos:closeMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19175 LEXMATCH -MONDO:0019641 Pauci-immune glomerulonephritis skos:closeMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019641 LEXMATCH -MONDO:0019641 Pauci-immune glomerulonephritis skos:closeMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019641 LEXMATCH -MONDO:0019641 Pauci-immune glomerulonephritis skos:closeMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93126 LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93160 LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16805 LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019642 LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019642 LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93160 LEXMATCH -MONDO:0019643 transient pseudohypoaldosteronism skos:closeMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93164 LEXMATCH -MONDO:0019643 transient pseudohypoaldosteronism skos:closeMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19176 LEXMATCH -MONDO:0019643 transient pseudohypoaldosteronism skos:closeMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019643 LEXMATCH -MONDO:0019643 transient pseudohypoaldosteronism skos:closeMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019643 LEXMATCH -MONDO:0019643 transient pseudohypoaldosteronism skos:closeMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93164 LEXMATCH -MONDO:0019644 renal dysplasia, unilateral skos:closeMatch Orphanet:93172 Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93172 LEXMATCH -MONDO:0019644 renal dysplasia, unilateral skos:closeMatch Orphanet:93172 Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19177 LEXMATCH -MONDO:0019644 renal dysplasia, unilateral skos:closeMatch Orphanet:93172 Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019644 LEXMATCH -MONDO:0019644 renal dysplasia, unilateral skos:closeMatch Orphanet:93172 Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019644 LEXMATCH -MONDO:0019644 renal dysplasia, unilateral skos:closeMatch Orphanet:93172 Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93172 LEXMATCH -MONDO:0019645 renal dysplasia, bilateral skos:closeMatch Orphanet:93173 Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93173 LEXMATCH -MONDO:0019645 renal dysplasia, bilateral skos:closeMatch Orphanet:93173 Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19178 LEXMATCH -MONDO:0019645 renal dysplasia, bilateral skos:closeMatch Orphanet:93173 Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019645 LEXMATCH -MONDO:0019645 renal dysplasia, bilateral skos:closeMatch Orphanet:93173 Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019645 LEXMATCH -MONDO:0019645 renal dysplasia, bilateral skos:closeMatch Orphanet:93173 Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93173 LEXMATCH -MONDO:0019646 unilateral congenital megacalycosis skos:closeMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93176 LEXMATCH -MONDO:0019646 unilateral congenital megacalycosis skos:closeMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19179 LEXMATCH -MONDO:0019646 unilateral congenital megacalycosis skos:closeMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019646 LEXMATCH -MONDO:0019646 unilateral congenital megacalycosis skos:closeMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019646 LEXMATCH -MONDO:0019646 unilateral congenital megacalycosis skos:closeMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93176 LEXMATCH -MONDO:0019647 congenital bilateral megacalycosis skos:closeMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93177 LEXMATCH -MONDO:0019647 congenital bilateral megacalycosis skos:closeMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19180 LEXMATCH -MONDO:0019647 congenital bilateral megacalycosis skos:closeMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019647 LEXMATCH -MONDO:0019647 congenital bilateral megacalycosis skos:closeMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019647 LEXMATCH -MONDO:0019647 congenital bilateral megacalycosis skos:closeMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93177 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066122 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001079 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:932 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2882 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019648 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019648 LEXMATCH -MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:932 LEXMATCH -MONDO:0019659 Pfeiffer syndrome type 1 skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93258 LEXMATCH -MONDO:0019659 Pfeiffer syndrome type 1 skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16807 LEXMATCH -MONDO:0019659 Pfeiffer syndrome type 1 skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019659 LEXMATCH -MONDO:0019659 Pfeiffer syndrome type 1 skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019659 LEXMATCH -MONDO:0019659 Pfeiffer syndrome type 1 skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93258 LEXMATCH -MONDO:0019660 Pfeiffer syndrome type 2 skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93259 LEXMATCH -MONDO:0019660 Pfeiffer syndrome type 2 skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16808 LEXMATCH -MONDO:0019660 Pfeiffer syndrome type 2 skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019660 LEXMATCH -MONDO:0019660 Pfeiffer syndrome type 2 skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019660 LEXMATCH -MONDO:0019660 Pfeiffer syndrome type 2 skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93259 LEXMATCH -MONDO:0019661 Pfeiffer syndrome type 3 skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93260 LEXMATCH -MONDO:0019661 Pfeiffer syndrome type 3 skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16809 LEXMATCH -MONDO:0019661 Pfeiffer syndrome type 3 skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019661 LEXMATCH -MONDO:0019661 Pfeiffer syndrome type 3 skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019661 LEXMATCH -MONDO:0019661 Pfeiffer syndrome type 3 skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93260 LEXMATCH -MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93269 LEXMATCH -MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4833 LEXMATCH -MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019662 LEXMATCH -MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019662 LEXMATCH -MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93269 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016064 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93277 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19181 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019665 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019665 LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93277 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612847 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93282 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16813 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019666 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019666 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612847 LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93282 LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93284 LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10624 LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019667 LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019667 LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93284 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058902 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142432 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93292 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4204 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019668 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019668 LEXMATCH -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93292 LEXMATCH -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93297 LEXMATCH -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16815 LEXMATCH -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019669 LEXMATCH -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019669 LEXMATCH -MONDO:0019669 hypochondrogenesis skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93297 LEXMATCH -MONDO:0019670 ulnar hemimelia skos:closeMatch Orphanet:93320 Ulnar hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93320 LEXMATCH -MONDO:0019670 ulnar hemimelia skos:closeMatch Orphanet:93320 Ulnar hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19182 LEXMATCH -MONDO:0019670 ulnar hemimelia skos:closeMatch Orphanet:93320 Ulnar hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019670 LEXMATCH -MONDO:0019670 ulnar hemimelia skos:closeMatch Orphanet:93320 Ulnar hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019670 LEXMATCH -MONDO:0019670 ulnar hemimelia skos:closeMatch Orphanet:93320 Ulnar hemimelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93320 LEXMATCH -MONDO:0019671 radial hemimelia skos:closeMatch Orphanet:93321 Radial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93321 LEXMATCH -MONDO:0019671 radial hemimelia skos:closeMatch Orphanet:93321 Radial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:225 LEXMATCH -MONDO:0019671 radial hemimelia skos:closeMatch Orphanet:93321 Radial hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019671 LEXMATCH -MONDO:0019671 radial hemimelia skos:closeMatch Orphanet:93321 Radial hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019671 LEXMATCH -MONDO:0019671 radial hemimelia skos:closeMatch Orphanet:93321 Radial hemimelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93321 LEXMATCH -MONDO:0019672 fibular hemimelia skos:closeMatch Orphanet:93323 Fibular hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93323 LEXMATCH -MONDO:0019672 fibular hemimelia skos:closeMatch Orphanet:93323 Fibular hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8659 LEXMATCH -MONDO:0019672 fibular hemimelia skos:closeMatch Orphanet:93323 Fibular hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019672 LEXMATCH -MONDO:0019672 fibular hemimelia skos:closeMatch Orphanet:93323 Fibular hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019672 LEXMATCH -MONDO:0019672 fibular hemimelia skos:closeMatch Orphanet:93323 Fibular hemimelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93323 LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887487 LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93334 LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16817 LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019673 LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019673 LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93334 LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93335 LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16818 LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019674 LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019674 LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93335 LEXMATCH -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 LEXMATCH -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, beighton type LEXMATCH -MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300267 LEXMATCH -MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93383 LEXMATCH -MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:985 LEXMATCH -MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019676 LEXMATCH -MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019676 LEXMATCH -MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93383 LEXMATCH -MONDO:0019677 brachydactyly type E skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93387 LEXMATCH -MONDO:0019677 brachydactyly type E skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:987 LEXMATCH -MONDO:0019677 brachydactyly type E skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019677 LEXMATCH -MONDO:0019677 brachydactyly type E skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019677 LEXMATCH -MONDO:0019677 brachydactyly type E skos:closeMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93387 LEXMATCH -MONDO:0019679 brachydactyly type A7 skos:closeMatch Orphanet:93397 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93397 LEXMATCH -MONDO:0019679 brachydactyly type A7 skos:closeMatch Orphanet:93397 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:984 LEXMATCH -MONDO:0019679 brachydactyly type A7 skos:closeMatch Orphanet:93397 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019679 LEXMATCH -MONDO:0019679 brachydactyly type A7 skos:closeMatch Orphanet:93397 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019679 LEXMATCH -MONDO:0019679 brachydactyly type A7 skos:closeMatch Orphanet:93397 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93397 LEXMATCH -MONDO:0019680 genochondromatosis type 2 skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93398 LEXMATCH -MONDO:0019680 genochondromatosis type 2 skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16820 LEXMATCH -MONDO:0019680 genochondromatosis type 2 skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019680 LEXMATCH -MONDO:0019680 genochondromatosis type 2 skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019680 LEXMATCH -MONDO:0019680 genochondromatosis type 2 skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93398 LEXMATCH -MONDO:0019681 juvenile sialidosis type 2 skos:closeMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93399 LEXMATCH -MONDO:0019681 juvenile sialidosis type 2 skos:closeMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19183 LEXMATCH -MONDO:0019681 juvenile sialidosis type 2 skos:closeMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019681 LEXMATCH -MONDO:0019681 juvenile sialidosis type 2 skos:closeMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019681 LEXMATCH -MONDO:0019681 juvenile sialidosis type 2 skos:closeMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93399 LEXMATCH -MONDO:0019682 congenital sialidosis type 2 skos:closeMatch Orphanet:93400 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93400 LEXMATCH -MONDO:0019682 congenital sialidosis type 2 skos:closeMatch Orphanet:93400 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19184 LEXMATCH -MONDO:0019682 congenital sialidosis type 2 skos:closeMatch Orphanet:93400 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019682 LEXMATCH -MONDO:0019682 congenital sialidosis type 2 skos:closeMatch Orphanet:93400 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019682 LEXMATCH -MONDO:0019682 congenital sialidosis type 2 skos:closeMatch Orphanet:93400 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93400 LEXMATCH -MONDO:0019685 FGFR3-related chondrodysplasia skos:closeMatch Orphanet:93420 FGFR3-related chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19185 LEXMATCH -MONDO:0019685 FGFR3-related chondrodysplasia skos:closeMatch Orphanet:93420 FGFR3-related chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019685 LEXMATCH -MONDO:0019685 FGFR3-related chondrodysplasia skos:closeMatch Orphanet:93420 FGFR3-related chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019685 LEXMATCH -MONDO:0019689 perlecan-related bone disorder skos:closeMatch Orphanet:93424 Perlecan-related bone disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19189 LEXMATCH -MONDO:0019689 perlecan-related bone disorder skos:closeMatch Orphanet:93424 Perlecan-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019689 LEXMATCH -MONDO:0019689 perlecan-related bone disorder skos:closeMatch Orphanet:93424 Perlecan-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019689 LEXMATCH -MONDO:0019690 filamin-related bone disorder skos:closeMatch Orphanet:93425 Filamin-related bone disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19190 LEXMATCH -MONDO:0019690 filamin-related bone disorder skos:closeMatch Orphanet:93425 Filamin-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019690 LEXMATCH -MONDO:0019690 filamin-related bone disorder skos:closeMatch Orphanet:93425 Filamin-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019690 LEXMATCH -MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93426 LEXMATCH -MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16822 LEXMATCH -MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliopathies with major skeletal involvement LEXMATCH -MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019691 LEXMATCH -MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019691 LEXMATCH -MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93426 LEXMATCH -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia skos:closeMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93429 LEXMATCH -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia skos:closeMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19191 LEXMATCH -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia skos:closeMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019692 LEXMATCH -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia skos:closeMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019692 LEXMATCH -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia skos:closeMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93429 LEXMATCH -MONDO:0019693 multiple metaphyseal dysplasia skos:closeMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93430 LEXMATCH -MONDO:0019693 multiple metaphyseal dysplasia skos:closeMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19192 LEXMATCH -MONDO:0019693 multiple metaphyseal dysplasia skos:closeMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019693 LEXMATCH -MONDO:0019693 multiple metaphyseal dysplasia skos:closeMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019693 LEXMATCH -MONDO:0019693 multiple metaphyseal dysplasia skos:closeMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93430 LEXMATCH -MONDO:0019694 spondylodysplastic dysplasia skos:closeMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93434 LEXMATCH -MONDO:0019694 spondylodysplastic dysplasia skos:closeMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19193 LEXMATCH -MONDO:0019694 spondylodysplastic dysplasia skos:closeMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019694 LEXMATCH -MONDO:0019694 spondylodysplastic dysplasia skos:closeMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019694 LEXMATCH -MONDO:0019694 spondylodysplastic dysplasia skos:closeMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93434 LEXMATCH -MONDO:0019695 acromelic dysplasia skos:closeMatch Orphanet:93436 Acromelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93436 LEXMATCH -MONDO:0019695 acromelic dysplasia skos:closeMatch Orphanet:93436 Acromelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19194 LEXMATCH -MONDO:0019695 acromelic dysplasia skos:closeMatch Orphanet:93436 Acromelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019695 LEXMATCH -MONDO:0019695 acromelic dysplasia skos:closeMatch Orphanet:93436 Acromelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019695 LEXMATCH -MONDO:0019695 acromelic dysplasia skos:closeMatch Orphanet:93436 Acromelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93436 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93437 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019696 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019696 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93437 LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromesomelic dwarfism LEXMATCH -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia skos:closeMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93438 LEXMATCH -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia skos:closeMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19195 LEXMATCH -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia skos:closeMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019697 LEXMATCH -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia skos:closeMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019697 LEXMATCH -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia skos:closeMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93438 LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432238 LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93439 LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19196 LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label campomelic dysplasia and related disorders LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019698 LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019698 LEXMATCH -MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93439 LEXMATCH -MONDO:0019699 slender bone dysplasia skos:closeMatch Orphanet:93440 Slender bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93440 LEXMATCH -MONDO:0019699 slender bone dysplasia skos:closeMatch Orphanet:93440 Slender bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19197 LEXMATCH -MONDO:0019699 slender bone dysplasia skos:closeMatch Orphanet:93440 Slender bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019699 LEXMATCH -MONDO:0019699 slender bone dysplasia skos:closeMatch Orphanet:93440 Slender bone dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019699 LEXMATCH -MONDO:0019699 slender bone dysplasia skos:closeMatch Orphanet:93440 Slender bone dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93440 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002806 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008445 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93442 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8542 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019701 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019701 LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93442 LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300205 LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93443 LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19199 LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019702 LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019702 LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93443 LEXMATCH -MONDO:0019707 primary osteolysis skos:closeMatch Orphanet:93449 Primary osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19204 LEXMATCH -MONDO:0019707 primary osteolysis skos:closeMatch Orphanet:93449 Primary osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019707 LEXMATCH -MONDO:0019707 primary osteolysis skos:closeMatch Orphanet:93449 Primary osteolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019707 LEXMATCH -MONDO:0019712 patellar dysostosis skos:closeMatch Orphanet:93455 Patellar dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19209 LEXMATCH -MONDO:0019712 patellar dysostosis skos:closeMatch Orphanet:93455 Patellar dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019712 LEXMATCH -MONDO:0019712 patellar dysostosis skos:closeMatch Orphanet:93455 Patellar dysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019712 LEXMATCH -MONDO:0019713 non-syndromic limb reduction defect skos:closeMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93457 LEXMATCH -MONDO:0019713 non-syndromic limb reduction defect skos:closeMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19210 LEXMATCH -MONDO:0019713 non-syndromic limb reduction defect skos:closeMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019713 LEXMATCH -MONDO:0019713 non-syndromic limb reduction defect skos:closeMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019713 LEXMATCH -MONDO:0019713 non-syndromic limb reduction defect skos:closeMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93457 LEXMATCH -MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:closeMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19211 LEXMATCH -MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:closeMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019714 LEXMATCH -MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:closeMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019714 LEXMATCH -MONDO:0019716 overgrowth syndrome skos:closeMatch Orphanet:93460 Overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93460 LEXMATCH -MONDO:0019716 overgrowth syndrome skos:closeMatch Orphanet:93460 Overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19213 LEXMATCH -MONDO:0019716 overgrowth syndrome skos:closeMatch Orphanet:93460 Overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019716 LEXMATCH -MONDO:0019716 overgrowth syndrome skos:closeMatch Orphanet:93460 Overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019716 LEXMATCH -MONDO:0019716 overgrowth syndrome skos:closeMatch Orphanet:93460 Overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93460 LEXMATCH -MONDO:0019718 lethal chondrodysplasia skos:closeMatch Orphanet:93465 Lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19215 LEXMATCH -MONDO:0019718 lethal chondrodysplasia skos:closeMatch Orphanet:93465 Lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019718 LEXMATCH -MONDO:0019718 lethal chondrodysplasia skos:closeMatch Orphanet:93465 Lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019718 LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1968949 LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93545 LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19216 LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019719 LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019719 LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93545 LEXMATCH -MONDO:0019722 glomerular disorder skos:closeMatch Orphanet:93548 Glomerular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93548 LEXMATCH -MONDO:0019722 glomerular disorder skos:closeMatch Orphanet:93548 Glomerular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12736 LEXMATCH -MONDO:0019722 glomerular disorder skos:closeMatch Orphanet:93548 Glomerular disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019722 LEXMATCH -MONDO:0019722 glomerular disorder skos:closeMatch Orphanet:93548 Glomerular disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019722 LEXMATCH -MONDO:0019722 glomerular disorder skos:closeMatch Orphanet:93548 Glomerular disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93548 LEXMATCH -MONDO:0019725 pediatric systemic lupus erythematosus skos:closeMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93552 LEXMATCH -MONDO:0019725 pediatric systemic lupus erythematosus skos:closeMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19219 LEXMATCH -MONDO:0019725 pediatric systemic lupus erythematosus skos:closeMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019725 LEXMATCH -MONDO:0019725 pediatric systemic lupus erythematosus skos:closeMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019725 LEXMATCH -MONDO:0019725 pediatric systemic lupus erythematosus skos:closeMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93552 LEXMATCH -MONDO:0019726 type II mixed cryoglobulinemia skos:closeMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93554 LEXMATCH -MONDO:0019726 type II mixed cryoglobulinemia skos:closeMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19220 LEXMATCH -MONDO:0019726 type II mixed cryoglobulinemia skos:closeMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019726 LEXMATCH -MONDO:0019726 type II mixed cryoglobulinemia skos:closeMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019726 LEXMATCH -MONDO:0019726 type II mixed cryoglobulinemia skos:closeMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93554 LEXMATCH -MONDO:0019727 mixed cryoglobulinemia type III skos:closeMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93555 LEXMATCH -MONDO:0019727 mixed cryoglobulinemia type III skos:closeMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19221 LEXMATCH -MONDO:0019727 mixed cryoglobulinemia type III skos:closeMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019727 LEXMATCH -MONDO:0019727 mixed cryoglobulinemia type III skos:closeMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019727 LEXMATCH -MONDO:0019727 mixed cryoglobulinemia type III skos:closeMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93555 LEXMATCH -MONDO:0019728 heavy chain deposition disease skos:closeMatch Orphanet:93556 Heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93556 LEXMATCH -MONDO:0019728 heavy chain deposition disease skos:closeMatch Orphanet:93556 Heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19222 LEXMATCH -MONDO:0019728 heavy chain deposition disease skos:closeMatch Orphanet:93556 Heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019728 LEXMATCH -MONDO:0019728 heavy chain deposition disease skos:closeMatch Orphanet:93556 Heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019728 LEXMATCH -MONDO:0019728 heavy chain deposition disease skos:closeMatch Orphanet:93556 Heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93556 LEXMATCH -MONDO:0019729 light and heavy chain deposition disease skos:closeMatch Orphanet:93557 Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93557 LEXMATCH -MONDO:0019729 light and heavy chain deposition disease skos:closeMatch Orphanet:93557 Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19223 LEXMATCH -MONDO:0019729 light and heavy chain deposition disease skos:closeMatch Orphanet:93557 Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019729 LEXMATCH -MONDO:0019729 light and heavy chain deposition disease skos:closeMatch Orphanet:93557 Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019729 LEXMATCH -MONDO:0019729 light and heavy chain deposition disease skos:closeMatch Orphanet:93557 Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93557 LEXMATCH -MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238239 LEXMATCH -MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93558 LEXMATCH -MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6906 LEXMATCH -MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019730 LEXMATCH -MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019730 LEXMATCH -MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93558 LEXMATCH -MONDO:0019731 AApoAI amyloidosis skos:closeMatch Orphanet:93560 AApoAI amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93560 LEXMATCH -MONDO:0019731 AApoAI amyloidosis skos:closeMatch Orphanet:93560 AApoAI amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19224 LEXMATCH -MONDO:0019731 AApoAI amyloidosis skos:closeMatch Orphanet:93560 AApoAI amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019731 LEXMATCH -MONDO:0019731 AApoAI amyloidosis skos:closeMatch Orphanet:93560 AApoAI amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019731 LEXMATCH -MONDO:0019731 AApoAI amyloidosis skos:closeMatch Orphanet:93560 AApoAI amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93560 LEXMATCH -MONDO:0019732 ALys amyloidosis skos:closeMatch Orphanet:93561 ALys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93561 LEXMATCH -MONDO:0019732 ALys amyloidosis skos:closeMatch Orphanet:93561 ALys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19225 LEXMATCH -MONDO:0019732 ALys amyloidosis skos:closeMatch Orphanet:93561 ALys amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019732 LEXMATCH -MONDO:0019732 ALys amyloidosis skos:closeMatch Orphanet:93561 ALys amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019732 LEXMATCH -MONDO:0019732 ALys amyloidosis skos:closeMatch Orphanet:93561 ALys amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93561 LEXMATCH -MONDO:0019733 AFib amyloidosis skos:closeMatch Orphanet:93562 AFib amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93562 LEXMATCH -MONDO:0019733 AFib amyloidosis skos:closeMatch Orphanet:93562 AFib amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19226 LEXMATCH -MONDO:0019733 AFib amyloidosis skos:closeMatch Orphanet:93562 AFib amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019733 LEXMATCH -MONDO:0019733 AFib amyloidosis skos:closeMatch Orphanet:93562 AFib amyloidosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019733 LEXMATCH -MONDO:0019733 AFib amyloidosis skos:closeMatch Orphanet:93562 AFib amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93562 LEXMATCH -MONDO:0019734 juvenile polymyositis skos:closeMatch Orphanet:93568 Juvenile polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93568 LEXMATCH -MONDO:0019734 juvenile polymyositis skos:closeMatch Orphanet:93568 Juvenile polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12742 LEXMATCH -MONDO:0019734 juvenile polymyositis skos:closeMatch Orphanet:93568 Juvenile polymyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019734 LEXMATCH -MONDO:0019734 juvenile polymyositis skos:closeMatch Orphanet:93568 Juvenile polymyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019734 LEXMATCH -MONDO:0019734 juvenile polymyositis skos:closeMatch Orphanet:93568 Juvenile polymyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93568 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068240 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93569 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4704 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019735 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019735 LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93569 LEXMATCH -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268743 LEXMATCH -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93571 LEXMATCH -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8555 LEXMATCH -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019736 LEXMATCH -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019736 LEXMATCH -MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93571 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043645 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717961 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93573 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19227 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019737 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019737 LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93573 LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93581 LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16823 LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019739 LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019739 LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93581 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2584778 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93585 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4607 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019740 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019740 LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93585 LEXMATCH -MONDO:0019741 familial cystic renal disease skos:closeMatch Orphanet:93587 Genetic cystic renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19228 LEXMATCH -MONDO:0019741 familial cystic renal disease skos:closeMatch Orphanet:93587 Genetic cystic renal disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019741 LEXMATCH -MONDO:0019741 familial cystic renal disease skos:closeMatch Orphanet:93587 Genetic cystic renal disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019741 LEXMATCH -MONDO:0019742 late-onset nephronophthisis skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93589 LEXMATCH -MONDO:0019742 late-onset nephronophthisis skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16824 LEXMATCH -MONDO:0019742 late-onset nephronophthisis skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019742 LEXMATCH -MONDO:0019742 late-onset nephronophthisis skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019742 LEXMATCH -MONDO:0019742 late-onset nephronophthisis skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93589 LEXMATCH -MONDO:0019745 cystinuria type A skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93612 LEXMATCH -MONDO:0019745 cystinuria type A skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16827 LEXMATCH -MONDO:0019745 cystinuria type A skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019745 LEXMATCH -MONDO:0019745 cystinuria type A skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019745 LEXMATCH -MONDO:0019745 cystinuria type A skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93612 LEXMATCH -MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857389 LEXMATCH -MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93613 LEXMATCH -MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16828 LEXMATCH -MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019746 LEXMATCH -MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019746 LEXMATCH -MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93613 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072220 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267073 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93665 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19234 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019751 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019751 LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93665 LEXMATCH -MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93685 LEXMATCH -MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6005 LEXMATCH -MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unicentric castleman disease LEXMATCH -MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019753 LEXMATCH -MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019753 LEXMATCH -MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93685 LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570438 LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22310 LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019754 LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019754 LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:closeMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570438 LEXMATCH -MONDO:0019755 developmental defect during embryogenesis skos:closeMatch Orphanet:93890 Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22513 LEXMATCH -MONDO:0019755 developmental defect during embryogenesis skos:closeMatch Orphanet:93890 Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019755 LEXMATCH -MONDO:0019755 developmental defect during embryogenesis skos:closeMatch Orphanet:93890 Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019755 LEXMATCH -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93924 LEXMATCH -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16830 LEXMATCH -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019756 LEXMATCH -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019756 LEXMATCH -MONDO:0019756 lobar holoprosencephaly skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93924 LEXMATCH -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93925 LEXMATCH -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16831 LEXMATCH -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019757 LEXMATCH -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019757 LEXMATCH -MONDO:0019757 alobar holoprosencephaly skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93925 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015088 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93928 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19235 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019759 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019759 LEXMATCH -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93928 LEXMATCH -MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:closeMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93938 LEXMATCH -MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:closeMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19236 LEXMATCH -MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:closeMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019761 LEXMATCH -MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:closeMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019761 LEXMATCH -MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:closeMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93938 LEXMATCH -MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:closeMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93939 LEXMATCH -MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:closeMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19237 LEXMATCH -MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:closeMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019762 LEXMATCH -MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:closeMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019762 LEXMATCH -MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:closeMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93939 LEXMATCH -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93940 LEXMATCH -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16833 LEXMATCH -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019763 LEXMATCH -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019763 LEXMATCH -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93940 LEXMATCH -MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:closeMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93941 LEXMATCH -MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:closeMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19238 LEXMATCH -MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:closeMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019764 LEXMATCH -MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:closeMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019764 LEXMATCH -MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:closeMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93941 LEXMATCH -MONDO:0019766 X-linked intellectual disability, Porteous type skos:closeMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93945 LEXMATCH -MONDO:0019766 X-linked intellectual disability, Porteous type skos:closeMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19239 LEXMATCH -MONDO:0019766 X-linked intellectual disability, Porteous type skos:closeMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019766 LEXMATCH -MONDO:0019766 X-linked intellectual disability, Porteous type skos:closeMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019766 LEXMATCH -MONDO:0019766 X-linked intellectual disability, Porteous type skos:closeMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93945 LEXMATCH -MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:closeMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93946 LEXMATCH -MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:closeMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19240 LEXMATCH -MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:closeMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019767 LEXMATCH -MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:closeMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019767 LEXMATCH -MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:closeMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93946 LEXMATCH -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:closeMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93947 LEXMATCH -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:closeMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19241 LEXMATCH -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:closeMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019768 LEXMATCH -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:closeMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019768 LEXMATCH -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:closeMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93947 LEXMATCH -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:closeMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93950 LEXMATCH -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:closeMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19242 LEXMATCH -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:closeMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019769 LEXMATCH -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:closeMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019769 LEXMATCH -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:closeMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93950 LEXMATCH -MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393607 LEXMATCH -MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93958 LEXMATCH -MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19243 LEXMATCH -MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019771 LEXMATCH -MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019771 LEXMATCH -MONDO:0019771 oromandibular dystonia skos:closeMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93958 LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008538 LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93964 LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7008 LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019772 LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019772 LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93964 LEXMATCH -MONDO:0019773 myelomeningocele skos:closeMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93969 LEXMATCH -MONDO:0019773 myelomeningocele skos:closeMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3475 LEXMATCH -MONDO:0019773 myelomeningocele skos:closeMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019773 LEXMATCH -MONDO:0019773 myelomeningocele skos:closeMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019773 LEXMATCH -MONDO:0019773 myelomeningocele skos:closeMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93969 LEXMATCH -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002654 LEXMATCH -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93976 LEXMATCH -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16835 LEXMATCH -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019780 LEXMATCH -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019780 LEXMATCH -MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93976 LEXMATCH -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 LEXMATCH -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 LEXMATCH -MONDO:0019782 humero-ulnar synostosis skos:closeMatch Orphanet:94056 Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94056 LEXMATCH -MONDO:0019782 humero-ulnar synostosis skos:closeMatch Orphanet:94056 Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19244 LEXMATCH -MONDO:0019782 humero-ulnar synostosis skos:closeMatch Orphanet:94056 Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019782 LEXMATCH -MONDO:0019782 humero-ulnar synostosis skos:closeMatch Orphanet:94056 Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019782 LEXMATCH -MONDO:0019782 humero-ulnar synostosis skos:closeMatch Orphanet:94056 Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94056 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062891 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017609 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94058 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19245 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019783 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019783 LEXMATCH -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94058 LEXMATCH -MONDO:0019784 12q14 microdeletion syndrome skos:closeMatch Orphanet:94063 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94063 LEXMATCH -MONDO:0019784 12q14 microdeletion syndrome skos:closeMatch Orphanet:94063 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13390 LEXMATCH -MONDO:0019784 12q14 microdeletion syndrome skos:closeMatch Orphanet:94063 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019784 LEXMATCH -MONDO:0019784 12q14 microdeletion syndrome skos:closeMatch Orphanet:94063 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019784 LEXMATCH -MONDO:0019784 12q14 microdeletion syndrome skos:closeMatch Orphanet:94063 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94063 LEXMATCH -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:closeMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94066 LEXMATCH -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:closeMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19247 LEXMATCH -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:closeMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019786 LEXMATCH -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:closeMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019786 LEXMATCH -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:closeMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94066 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:522043 Syndromic autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019787 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:522043 Syndromic autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0019787 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341305 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94075 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8689 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019787 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019787 LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94075 LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94080 LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19248 LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning paraganglioma LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019788 LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019788 LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94080 LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406594 LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94087 LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19249 LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019789 LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019789 LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94087 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029282 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027849 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94093 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7195 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019790 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019790 LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94093 LEXMATCH -MONDO:0019791 recessive mitochondrial ataxia syndrome skos:closeMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94125 LEXMATCH -MONDO:0019791 recessive mitochondrial ataxia syndrome skos:closeMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19251 LEXMATCH -MONDO:0019791 recessive mitochondrial ataxia syndrome skos:closeMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019791 LEXMATCH -MONDO:0019791 recessive mitochondrial ataxia syndrome skos:closeMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019791 LEXMATCH -MONDO:0019791 recessive mitochondrial ataxia syndrome skos:closeMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94125 LEXMATCH -MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:closeMatch Orphanet:94145 Autosomal dominant cerebellar ataxia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19252 LEXMATCH -MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:closeMatch Orphanet:94145 Autosomal dominant cerebellar ataxia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019792 LEXMATCH -MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:closeMatch Orphanet:94145 Autosomal dominant cerebellar ataxia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019792 LEXMATCH -MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:closeMatch Orphanet:94148 Autosomal dominant cerebellar ataxia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19253 LEXMATCH -MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:closeMatch Orphanet:94148 Autosomal dominant cerebellar ataxia type III semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019793 LEXMATCH -MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:closeMatch Orphanet:94148 Autosomal dominant cerebellar ataxia type III semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019793 LEXMATCH -MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:closeMatch Orphanet:94149 Autosomal dominant cerebellar ataxia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19254 LEXMATCH -MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:closeMatch Orphanet:94149 Autosomal dominant cerebellar ataxia type IV semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019794 LEXMATCH -MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:closeMatch Orphanet:94149 Autosomal dominant cerebellar ataxia type IV semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019794 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930936 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:945 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:361 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary acalvaria LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019795 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019795 LEXMATCH -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:945 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:950 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5724 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019797 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019797 LEXMATCH -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:950 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95159 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6169 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019799 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019799 LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95159 LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151467 LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95409 LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19257 LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019801 LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019801 LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95409 LEXMATCH -MONDO:0019802 secondary short bowel syndrome skos:closeMatch Orphanet:95427 Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95427 LEXMATCH -MONDO:0019802 secondary short bowel syndrome skos:closeMatch Orphanet:95427 Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19258 LEXMATCH -MONDO:0019802 secondary short bowel syndrome skos:closeMatch Orphanet:95427 Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019802 LEXMATCH -MONDO:0019802 secondary short bowel syndrome skos:closeMatch Orphanet:95427 Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019802 LEXMATCH -MONDO:0019802 secondary short bowel syndrome skos:closeMatch Orphanet:95427 Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95427 LEXMATCH -MONDO:0019803 angioma serpiginosum skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95429 LEXMATCH -MONDO:0019803 angioma serpiginosum skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15021 LEXMATCH -MONDO:0019803 angioma serpiginosum skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019803 LEXMATCH -MONDO:0019803 angioma serpiginosum skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019803 LEXMATCH -MONDO:0019803 angioma serpiginosum skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95429 LEXMATCH -MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010654 LEXMATCH -MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95430 LEXMATCH -MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10515 LEXMATCH -MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019804 LEXMATCH -MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019804 LEXMATCH -MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95430 LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058328 LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95431 LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:325 LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019805 LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019805 LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95431 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018888 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282513 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95432 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8541 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019806 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019806 LEXMATCH -MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95432 LEXMATCH -MONDO:0019807 mesocardia skos:closeMatch Orphanet:95443 Mesocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95443 LEXMATCH -MONDO:0019807 mesocardia skos:closeMatch Orphanet:95443 Mesocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19259 LEXMATCH -MONDO:0019807 mesocardia skos:closeMatch Orphanet:95443 Mesocardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019807 LEXMATCH -MONDO:0019807 mesocardia skos:closeMatch Orphanet:95443 Mesocardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019807 LEXMATCH -MONDO:0019807 mesocardia skos:closeMatch Orphanet:95443 Mesocardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95443 LEXMATCH -MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066801 LEXMATCH -MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95448 LEXMATCH -MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19260 LEXMATCH -MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019808 LEXMATCH -MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019808 LEXMATCH -MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95448 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lyell syndrome LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044223 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95455 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7743 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis spectrum LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019810 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019810 LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95455 LEXMATCH -MONDO:0019811 tricuspid valve agenesis skos:closeMatch Orphanet:95457 Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95457 LEXMATCH -MONDO:0019811 tricuspid valve agenesis skos:closeMatch Orphanet:95457 Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19261 LEXMATCH -MONDO:0019811 tricuspid valve agenesis skos:closeMatch Orphanet:95457 Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019811 LEXMATCH -MONDO:0019811 tricuspid valve agenesis skos:closeMatch Orphanet:95457 Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019811 LEXMATCH -MONDO:0019811 tricuspid valve agenesis skos:closeMatch Orphanet:95457 Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95457 LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010656 LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95459 LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19262 LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019813 LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019813 LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95459 LEXMATCH -MONDO:0019814 straddling or overriding tricuspid valve skos:closeMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95461 LEXMATCH -MONDO:0019814 straddling or overriding tricuspid valve skos:closeMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19263 LEXMATCH -MONDO:0019814 straddling or overriding tricuspid valve skos:closeMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019814 LEXMATCH -MONDO:0019814 straddling or overriding tricuspid valve skos:closeMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019814 LEXMATCH -MONDO:0019814 straddling or overriding tricuspid valve skos:closeMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95461 LEXMATCH -MONDO:0019815 accessory tricuspid valve tissue skos:closeMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95462 LEXMATCH -MONDO:0019815 accessory tricuspid valve tissue skos:closeMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19264 LEXMATCH -MONDO:0019815 accessory tricuspid valve tissue skos:closeMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019815 LEXMATCH -MONDO:0019815 accessory tricuspid valve tissue skos:closeMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019815 LEXMATCH -MONDO:0019815 accessory tricuspid valve tissue skos:closeMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95462 LEXMATCH -MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:closeMatch Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19266 LEXMATCH -MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:closeMatch Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019817 LEXMATCH -MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:closeMatch Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019817 LEXMATCH -MONDO:0019818 cleft mitral valve skos:closeMatch Orphanet:95465 Cleft mitral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95465 LEXMATCH -MONDO:0019818 cleft mitral valve skos:closeMatch Orphanet:95465 Cleft mitral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19267 LEXMATCH -MONDO:0019818 cleft mitral valve skos:closeMatch Orphanet:95465 Cleft mitral valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019818 LEXMATCH -MONDO:0019818 cleft mitral valve skos:closeMatch Orphanet:95465 Cleft mitral valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019818 LEXMATCH -MONDO:0019818 cleft mitral valve skos:closeMatch Orphanet:95465 Cleft mitral valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95465 LEXMATCH -MONDO:0019819 double-orifice mitral valve skos:closeMatch Orphanet:95474 Double-orifice mitral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95474 LEXMATCH -MONDO:0019819 double-orifice mitral valve skos:closeMatch Orphanet:95474 Double-orifice mitral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19268 LEXMATCH -MONDO:0019819 double-orifice mitral valve skos:closeMatch Orphanet:95474 Double-orifice mitral valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019819 LEXMATCH -MONDO:0019819 double-orifice mitral valve skos:closeMatch Orphanet:95474 Double-orifice mitral valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019819 LEXMATCH -MONDO:0019819 double-orifice mitral valve skos:closeMatch Orphanet:95474 Double-orifice mitral valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95474 LEXMATCH -MONDO:0019820 univentricular cardiopathy skos:closeMatch Orphanet:95483 Univentricular cardiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19269 LEXMATCH -MONDO:0019820 univentricular cardiopathy skos:closeMatch Orphanet:95483 Univentricular cardiopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019820 LEXMATCH -MONDO:0019820 univentricular cardiopathy skos:closeMatch Orphanet:95483 Univentricular cardiopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019820 LEXMATCH -MONDO:0019823 premature closure of the arterial duct skos:closeMatch Orphanet:95486 Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95486 LEXMATCH -MONDO:0019823 premature closure of the arterial duct skos:closeMatch Orphanet:95486 Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19271 LEXMATCH -MONDO:0019823 premature closure of the arterial duct skos:closeMatch Orphanet:95486 Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019823 LEXMATCH -MONDO:0019823 premature closure of the arterial duct skos:closeMatch Orphanet:95486 Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019823 LEXMATCH -MONDO:0019823 premature closure of the arterial duct skos:closeMatch Orphanet:95486 Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95486 LEXMATCH -MONDO:0019824 non-acquired pituitary hormone deficiency skos:closeMatch Orphanet:95488 Non-acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19272 LEXMATCH -MONDO:0019824 non-acquired pituitary hormone deficiency skos:closeMatch Orphanet:95488 Non-acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019824 LEXMATCH -MONDO:0019824 non-acquired pituitary hormone deficiency skos:closeMatch Orphanet:95488 Non-acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019824 LEXMATCH -MONDO:0019825 congenital coronary artery aneurysm skos:closeMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95491 LEXMATCH -MONDO:0019825 congenital coronary artery aneurysm skos:closeMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19273 LEXMATCH -MONDO:0019825 congenital coronary artery aneurysm skos:closeMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019825 LEXMATCH -MONDO:0019825 congenital coronary artery aneurysm skos:closeMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019825 LEXMATCH -MONDO:0019825 congenital coronary artery aneurysm skos:closeMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95491 LEXMATCH -MONDO:0019828 pituitary stalk interruption syndrome skos:closeMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95496 LEXMATCH -MONDO:0019828 pituitary stalk interruption syndrome skos:closeMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13209 LEXMATCH -MONDO:0019828 pituitary stalk interruption syndrome skos:closeMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019828 LEXMATCH -MONDO:0019828 pituitary stalk interruption syndrome skos:closeMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019828 LEXMATCH -MONDO:0019828 pituitary stalk interruption syndrome skos:closeMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95496 LEXMATCH -MONDO:0019829 congenital anomaly of superior vena cava skos:closeMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95498 LEXMATCH -MONDO:0019829 congenital anomaly of superior vena cava skos:closeMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19275 LEXMATCH -MONDO:0019829 congenital anomaly of superior vena cava skos:closeMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019829 LEXMATCH -MONDO:0019829 congenital anomaly of superior vena cava skos:closeMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019829 LEXMATCH -MONDO:0019829 congenital anomaly of superior vena cava skos:closeMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95498 LEXMATCH -MONDO:0019830 congenital anomaly of the inferior vena cava skos:closeMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95499 LEXMATCH -MONDO:0019830 congenital anomaly of the inferior vena cava skos:closeMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19276 LEXMATCH -MONDO:0019830 congenital anomaly of the inferior vena cava skos:closeMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019830 LEXMATCH -MONDO:0019830 congenital anomaly of the inferior vena cava skos:closeMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019830 LEXMATCH -MONDO:0019830 congenital anomaly of the inferior vena cava skos:closeMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95499 LEXMATCH -MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch Orphanet:95502 Acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19278 LEXMATCH -MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch Orphanet:95502 Acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019832 LEXMATCH -MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch Orphanet:95502 Acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019832 LEXMATCH -MONDO:0019835 primary hypophysitis skos:closeMatch Orphanet:95506 Primary hypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95506 LEXMATCH -MONDO:0019835 primary hypophysitis skos:closeMatch Orphanet:95506 Primary hypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19281 LEXMATCH -MONDO:0019835 primary hypophysitis skos:closeMatch Orphanet:95506 Primary hypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019835 LEXMATCH -MONDO:0019835 primary hypophysitis skos:closeMatch Orphanet:95506 Primary hypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019835 LEXMATCH -MONDO:0019835 primary hypophysitis skos:closeMatch Orphanet:95506 Primary hypophysitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95506 LEXMATCH -MONDO:0019836 congenital anomaly of hepatic vein skos:closeMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95507 LEXMATCH -MONDO:0019836 congenital anomaly of hepatic vein skos:closeMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19282 LEXMATCH -MONDO:0019836 congenital anomaly of hepatic vein skos:closeMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019836 LEXMATCH -MONDO:0019836 congenital anomaly of hepatic vein skos:closeMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019836 LEXMATCH -MONDO:0019836 congenital anomaly of hepatic vein skos:closeMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95507 LEXMATCH -MONDO:0019838 adenohypophysitis skos:closeMatch Orphanet:95512 Adenohypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95512 LEXMATCH -MONDO:0019838 adenohypophysitis skos:closeMatch Orphanet:95512 Adenohypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19284 LEXMATCH -MONDO:0019838 adenohypophysitis skos:closeMatch Orphanet:95512 Adenohypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019838 LEXMATCH -MONDO:0019838 adenohypophysitis skos:closeMatch Orphanet:95512 Adenohypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019838 LEXMATCH -MONDO:0019838 adenohypophysitis skos:closeMatch Orphanet:95512 Adenohypophysitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95512 LEXMATCH -MONDO:0019839 panhypophysitis skos:closeMatch Orphanet:95513 Panhypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95513 LEXMATCH -MONDO:0019839 panhypophysitis skos:closeMatch Orphanet:95513 Panhypophysitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19285 LEXMATCH -MONDO:0019839 panhypophysitis skos:closeMatch Orphanet:95513 Panhypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019839 LEXMATCH -MONDO:0019839 panhypophysitis skos:closeMatch Orphanet:95513 Panhypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019839 LEXMATCH -MONDO:0019839 panhypophysitis skos:closeMatch Orphanet:95513 Panhypophysitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95513 LEXMATCH -MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:closeMatch Orphanet:95619 Post-traumatic pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95619 LEXMATCH -MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:closeMatch Orphanet:95619 Post-traumatic pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19290 LEXMATCH -MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:closeMatch Orphanet:95619 Post-traumatic pituitary deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019845 LEXMATCH -MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:closeMatch Orphanet:95619 Post-traumatic pituitary deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019845 LEXMATCH -MONDO:0019845 iatrogenic or traumatic pituitary deficiency skos:closeMatch Orphanet:95619 Post-traumatic pituitary deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95619 LEXMATCH -MONDO:0019846 acquired central diabetes insipidus skos:closeMatch Orphanet:95626 Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95626 LEXMATCH -MONDO:0019846 acquired central diabetes insipidus skos:closeMatch Orphanet:95626 Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19291 LEXMATCH -MONDO:0019846 acquired central diabetes insipidus skos:closeMatch Orphanet:95626 Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019846 LEXMATCH -MONDO:0019846 acquired central diabetes insipidus skos:closeMatch Orphanet:95626 Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019846 LEXMATCH -MONDO:0019846 acquired central diabetes insipidus skos:closeMatch Orphanet:95626 Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95626 LEXMATCH -MONDO:0019848 posterior hypospadias skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95706 LEXMATCH -MONDO:0019848 posterior hypospadias skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16840 LEXMATCH -MONDO:0019848 posterior hypospadias skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019848 LEXMATCH -MONDO:0019848 posterior hypospadias skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019848 LEXMATCH -MONDO:0019848 posterior hypospadias skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95706 LEXMATCH -MONDO:0019849 isolated micropenis skos:closeMatch Orphanet:95707 Idiopathic isolated micropenis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95707 LEXMATCH -MONDO:0019849 isolated micropenis skos:closeMatch Orphanet:95707 Idiopathic isolated micropenis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19292 LEXMATCH -MONDO:0019849 isolated micropenis skos:closeMatch Orphanet:95707 Idiopathic isolated micropenis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019849 LEXMATCH -MONDO:0019849 isolated micropenis skos:closeMatch Orphanet:95707 Idiopathic isolated micropenis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019849 LEXMATCH -MONDO:0019849 isolated micropenis skos:closeMatch Orphanet:95707 Idiopathic isolated micropenis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95707 LEXMATCH -MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95709 LEXMATCH -MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19293 LEXMATCH -MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired premature ovarian failure LEXMATCH -MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019851 LEXMATCH -MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019851 LEXMATCH -MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95709 LEXMATCH -MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95710 LEXMATCH -MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19294 LEXMATCH -MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired premature ovarian failure LEXMATCH -MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019852 LEXMATCH -MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019852 LEXMATCH -MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95710 LEXMATCH -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95712 LEXMATCH -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16841 LEXMATCH -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019854 LEXMATCH -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019854 LEXMATCH -MONDO:0019854 thyroid ectopia skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95712 LEXMATCH -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95713 LEXMATCH -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16842 LEXMATCH -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019855 LEXMATCH -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019855 LEXMATCH -MONDO:0019855 athyreosis skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95713 LEXMATCH -MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:closeMatch Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95715 LEXMATCH -MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:closeMatch Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19297 LEXMATCH -MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:closeMatch Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019857 LEXMATCH -MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:closeMatch Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019857 LEXMATCH -MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies skos:closeMatch Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95715 LEXMATCH -MONDO:0019858 idiopathic congenital hypothyroidism skos:closeMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95717 LEXMATCH -MONDO:0019858 idiopathic congenital hypothyroidism skos:closeMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19298 LEXMATCH -MONDO:0019858 idiopathic congenital hypothyroidism skos:closeMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019858 LEXMATCH -MONDO:0019858 idiopathic congenital hypothyroidism skos:closeMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019858 LEXMATCH -MONDO:0019858 idiopathic congenital hypothyroidism skos:closeMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95717 LEXMATCH -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95719 LEXMATCH -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16844 LEXMATCH -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019860 LEXMATCH -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019860 LEXMATCH -MONDO:0019860 thyroid hemiagenesis skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95719 LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065938 LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95720 LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8426 LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019861 LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019861 LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95720 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071015 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023569 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95854 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12032 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019862 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019862 LEXMATCH -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95854 LEXMATCH -MONDO:0019864 tetrasomy 21 skos:closeMatch Orphanet:96055 Tetrasomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96055 LEXMATCH -MONDO:0019864 tetrasomy 21 skos:closeMatch Orphanet:96055 Tetrasomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12480 LEXMATCH -MONDO:0019864 tetrasomy 21 skos:closeMatch Orphanet:96055 Tetrasomy 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019864 LEXMATCH -MONDO:0019864 tetrasomy 21 skos:closeMatch Orphanet:96055 Tetrasomy 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019864 LEXMATCH -MONDO:0019864 tetrasomy 21 skos:closeMatch Orphanet:96055 Tetrasomy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96055 LEXMATCH -MONDO:0019865 mosaic trisomy 4 skos:closeMatch Orphanet:96059 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96059 LEXMATCH -MONDO:0019865 mosaic trisomy 4 skos:closeMatch Orphanet:96059 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19300 LEXMATCH -MONDO:0019865 mosaic trisomy 4 skos:closeMatch Orphanet:96059 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019865 LEXMATCH -MONDO:0019865 mosaic trisomy 4 skos:closeMatch Orphanet:96059 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019865 LEXMATCH -MONDO:0019865 mosaic trisomy 4 skos:closeMatch Orphanet:96059 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96059 LEXMATCH -MONDO:0019866 mosaic trisomy 5 skos:closeMatch Orphanet:96060 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96060 LEXMATCH -MONDO:0019866 mosaic trisomy 5 skos:closeMatch Orphanet:96060 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19301 LEXMATCH -MONDO:0019866 mosaic trisomy 5 skos:closeMatch Orphanet:96060 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019866 LEXMATCH -MONDO:0019866 mosaic trisomy 5 skos:closeMatch Orphanet:96060 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019866 LEXMATCH -MONDO:0019866 mosaic trisomy 5 skos:closeMatch Orphanet:96060 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96060 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053916 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96061 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5359 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome 8 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy 8 mosaicism LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019867 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019867 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96061 LEXMATCH -MONDO:0019868 mosaic trisomy 10 skos:closeMatch Orphanet:96063 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96063 LEXMATCH -MONDO:0019868 mosaic trisomy 10 skos:closeMatch Orphanet:96063 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19302 LEXMATCH -MONDO:0019868 mosaic trisomy 10 skos:closeMatch Orphanet:96063 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019868 LEXMATCH -MONDO:0019868 mosaic trisomy 10 skos:closeMatch Orphanet:96063 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019868 LEXMATCH -MONDO:0019868 mosaic trisomy 10 skos:closeMatch Orphanet:96063 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96063 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536796 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96068 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6085 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome 22 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy 22 mosaicism LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019869 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019869 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96068 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:closeMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96069 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:closeMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19303 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:closeMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019870 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:closeMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019870 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:closeMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96069 LEXMATCH -MONDO:0019871 distal trisomy 2p skos:closeMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96070 LEXMATCH -MONDO:0019871 distal trisomy 2p skos:closeMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19304 LEXMATCH -MONDO:0019871 distal trisomy 2p skos:closeMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019871 LEXMATCH -MONDO:0019871 distal trisomy 2p skos:closeMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019871 LEXMATCH -MONDO:0019871 distal trisomy 2p skos:closeMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96070 LEXMATCH -MONDO:0019872 distal trisomy 3p skos:closeMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96071 LEXMATCH -MONDO:0019872 distal trisomy 3p skos:closeMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19305 LEXMATCH -MONDO:0019872 distal trisomy 3p skos:closeMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019872 LEXMATCH -MONDO:0019872 distal trisomy 3p skos:closeMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019872 LEXMATCH -MONDO:0019872 distal trisomy 3p skos:closeMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96071 LEXMATCH -MONDO:0019873 4p16.3 microduplication syndrome skos:closeMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96072 LEXMATCH -MONDO:0019873 4p16.3 microduplication syndrome skos:closeMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19306 LEXMATCH -MONDO:0019873 4p16.3 microduplication syndrome skos:closeMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019873 LEXMATCH -MONDO:0019873 4p16.3 microduplication syndrome skos:closeMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019873 LEXMATCH -MONDO:0019873 4p16.3 microduplication syndrome skos:closeMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96072 LEXMATCH -MONDO:0019874 distal trisomy 7p skos:closeMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96074 LEXMATCH -MONDO:0019874 distal trisomy 7p skos:closeMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19307 LEXMATCH -MONDO:0019874 distal trisomy 7p skos:closeMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019874 LEXMATCH -MONDO:0019874 distal trisomy 7p skos:closeMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019874 LEXMATCH -MONDO:0019874 distal trisomy 7p skos:closeMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96074 LEXMATCH -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:closeMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96076 LEXMATCH -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:closeMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19308 LEXMATCH -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:closeMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019875 LEXMATCH -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:closeMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019875 LEXMATCH -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:closeMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96076 LEXMATCH -MONDO:0019876 8p inverted duplication/deletion syndrome skos:closeMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96092 LEXMATCH -MONDO:0019876 8p inverted duplication/deletion syndrome skos:closeMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19309 LEXMATCH -MONDO:0019876 8p inverted duplication/deletion syndrome skos:closeMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019876 LEXMATCH -MONDO:0019876 8p inverted duplication/deletion syndrome skos:closeMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019876 LEXMATCH -MONDO:0019876 8p inverted duplication/deletion syndrome skos:closeMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96092 LEXMATCH -MONDO:0019877 distal trisomy 2q skos:closeMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96094 LEXMATCH -MONDO:0019877 distal trisomy 2q skos:closeMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19310 LEXMATCH -MONDO:0019877 distal trisomy 2q skos:closeMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019877 LEXMATCH -MONDO:0019877 distal trisomy 2q skos:closeMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019877 LEXMATCH -MONDO:0019877 distal trisomy 2q skos:closeMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96094 LEXMATCH -MONDO:0019878 3q26 microduplication syndrome skos:closeMatch Orphanet:96095 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96095 LEXMATCH -MONDO:0019878 3q26 microduplication syndrome skos:closeMatch Orphanet:96095 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19311 LEXMATCH -MONDO:0019878 3q26 microduplication syndrome skos:closeMatch Orphanet:96095 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019878 LEXMATCH -MONDO:0019878 3q26 microduplication syndrome skos:closeMatch Orphanet:96095 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019878 LEXMATCH -MONDO:0019878 3q26 microduplication syndrome skos:closeMatch Orphanet:96095 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96095 LEXMATCH -MONDO:0019879 distal trisomy 4q skos:closeMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96096 LEXMATCH -MONDO:0019879 distal trisomy 4q skos:closeMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19312 LEXMATCH -MONDO:0019879 distal trisomy 4q skos:closeMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019879 LEXMATCH -MONDO:0019879 distal trisomy 4q skos:closeMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019879 LEXMATCH -MONDO:0019879 distal trisomy 4q skos:closeMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96096 LEXMATCH -MONDO:0019880 distal trisomy 5q skos:closeMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96097 LEXMATCH -MONDO:0019880 distal trisomy 5q skos:closeMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19313 LEXMATCH -MONDO:0019880 distal trisomy 5q skos:closeMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019880 LEXMATCH -MONDO:0019880 distal trisomy 5q skos:closeMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019880 LEXMATCH -MONDO:0019880 distal trisomy 5q skos:closeMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96097 LEXMATCH -MONDO:0019881 distal trisomy 6q skos:closeMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96098 LEXMATCH -MONDO:0019881 distal trisomy 6q skos:closeMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19314 LEXMATCH -MONDO:0019881 distal trisomy 6q skos:closeMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019881 LEXMATCH -MONDO:0019881 distal trisomy 6q skos:closeMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019881 LEXMATCH -MONDO:0019881 distal trisomy 6q skos:closeMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96098 LEXMATCH -MONDO:0019882 distal trisomy 8q skos:closeMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96100 LEXMATCH -MONDO:0019882 distal trisomy 8q skos:closeMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19315 LEXMATCH -MONDO:0019882 distal trisomy 8q skos:closeMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019882 LEXMATCH -MONDO:0019882 distal trisomy 8q skos:closeMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019882 LEXMATCH -MONDO:0019882 distal trisomy 8q skos:closeMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96100 LEXMATCH -MONDO:0019883 distal trisomy 9q skos:closeMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96101 LEXMATCH -MONDO:0019883 distal trisomy 9q skos:closeMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19316 LEXMATCH -MONDO:0019883 distal trisomy 9q skos:closeMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019883 LEXMATCH -MONDO:0019883 distal trisomy 9q skos:closeMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019883 LEXMATCH -MONDO:0019883 distal trisomy 9q skos:closeMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96101 LEXMATCH -MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538087 LEXMATCH -MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96102 LEXMATCH -MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19317 LEXMATCH -MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019884 LEXMATCH -MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019884 LEXMATCH -MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96102 LEXMATCH -MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538294 LEXMATCH -MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96103 LEXMATCH -MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19318 LEXMATCH -MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019885 LEXMATCH -MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019885 LEXMATCH -MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96103 LEXMATCH -MONDO:0019886 distal trisomy 13q skos:closeMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96105 LEXMATCH -MONDO:0019886 distal trisomy 13q skos:closeMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19319 LEXMATCH -MONDO:0019886 distal trisomy 13q skos:closeMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019886 LEXMATCH -MONDO:0019886 distal trisomy 13q skos:closeMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019886 LEXMATCH -MONDO:0019886 distal trisomy 13q skos:closeMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96105 LEXMATCH -MONDO:0019887 distal trisomy 16q skos:closeMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96106 LEXMATCH -MONDO:0019887 distal trisomy 16q skos:closeMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19320 LEXMATCH -MONDO:0019887 distal trisomy 16q skos:closeMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019887 LEXMATCH -MONDO:0019887 distal trisomy 16q skos:closeMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019887 LEXMATCH -MONDO:0019887 distal trisomy 16q skos:closeMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96106 LEXMATCH -MONDO:0019888 distal trisomy 20q skos:closeMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96107 LEXMATCH -MONDO:0019888 distal trisomy 20q skos:closeMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19321 LEXMATCH -MONDO:0019888 distal trisomy 20q skos:closeMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019888 LEXMATCH -MONDO:0019888 distal trisomy 20q skos:closeMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019888 LEXMATCH -MONDO:0019888 distal trisomy 20q skos:closeMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96107 LEXMATCH -MONDO:0019889 distal trisomy 22q skos:closeMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96109 LEXMATCH -MONDO:0019889 distal trisomy 22q skos:closeMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19322 LEXMATCH -MONDO:0019889 distal trisomy 22q skos:closeMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019889 LEXMATCH -MONDO:0019889 distal trisomy 22q skos:closeMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019889 LEXMATCH -MONDO:0019889 distal trisomy 22q skos:closeMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96109 LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:closeMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96112 LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:closeMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19323 LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:closeMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019890 LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:closeMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019890 LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:closeMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96112 LEXMATCH -MONDO:0019891 monosomy 22 skos:closeMatch Orphanet:96123 Monosomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96123 LEXMATCH -MONDO:0019891 monosomy 22 skos:closeMatch Orphanet:96123 Monosomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19324 LEXMATCH -MONDO:0019891 monosomy 22 skos:closeMatch Orphanet:96123 Monosomy 22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019891 LEXMATCH -MONDO:0019891 monosomy 22 skos:closeMatch Orphanet:96123 Monosomy 22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019891 LEXMATCH -MONDO:0019891 monosomy 22 skos:closeMatch Orphanet:96123 Monosomy 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96123 LEXMATCH -MONDO:0019892 distal monosomy 7p skos:closeMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96126 LEXMATCH -MONDO:0019892 distal monosomy 7p skos:closeMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19325 LEXMATCH -MONDO:0019892 distal monosomy 7p skos:closeMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019892 LEXMATCH -MONDO:0019892 distal monosomy 7p skos:closeMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019892 LEXMATCH -MONDO:0019892 distal monosomy 7p skos:closeMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96126 LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:closeMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96129 LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:closeMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19326 LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:closeMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019893 LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:closeMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019893 LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:closeMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96129 LEXMATCH -MONDO:0019895 distal monosomy 4q skos:closeMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96145 LEXMATCH -MONDO:0019895 distal monosomy 4q skos:closeMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19327 LEXMATCH -MONDO:0019895 distal monosomy 4q skos:closeMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019895 LEXMATCH -MONDO:0019895 distal monosomy 4q skos:closeMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019895 LEXMATCH -MONDO:0019895 distal monosomy 4q skos:closeMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96145 LEXMATCH -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96147 LEXMATCH -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16846 LEXMATCH -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019896 LEXMATCH -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019896 LEXMATCH -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96147 LEXMATCH -MONDO:0019897 distal monosomy 12q skos:closeMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96149 LEXMATCH -MONDO:0019897 distal monosomy 12q skos:closeMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19328 LEXMATCH -MONDO:0019897 distal monosomy 12q skos:closeMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019897 LEXMATCH -MONDO:0019897 distal monosomy 12q skos:closeMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019897 LEXMATCH -MONDO:0019897 distal monosomy 12q skos:closeMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96149 LEXMATCH -MONDO:0019898 distal monosomy 14q skos:closeMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96150 LEXMATCH -MONDO:0019898 distal monosomy 14q skos:closeMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19329 LEXMATCH -MONDO:0019898 distal monosomy 14q skos:closeMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019898 LEXMATCH -MONDO:0019898 distal monosomy 14q skos:closeMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019898 LEXMATCH -MONDO:0019898 distal monosomy 14q skos:closeMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96150 LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:closeMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96160 LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:closeMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19330 LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:closeMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019900 LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:closeMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019900 LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:closeMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96160 LEXMATCH -MONDO:0019902 monosomy 13q34 skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96168 LEXMATCH -MONDO:0019902 monosomy 13q34 skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16847 LEXMATCH -MONDO:0019902 monosomy 13q34 skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019902 LEXMATCH -MONDO:0019902 monosomy 13q34 skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019902 LEXMATCH -MONDO:0019902 monosomy 13q34 skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96168 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96171 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10837 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 2 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 2 syndrome LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019903 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019903 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96171 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96172 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10839 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 3 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 3 syndrome LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019904 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019904 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96172 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96173 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1348 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 9 syndrome LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019905 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019905 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96173 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265444 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96175 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10846 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 11 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 11 syndrome LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019906 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019906 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96175 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96176 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6069 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 13 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 13 syndrome LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019907 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019907 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96176 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96177 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1328 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 15 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 15 syndrome LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019908 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019908 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96177 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96178 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10855 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring 16 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome 16 syndrome LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019909 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019909 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96178 LEXMATCH -MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:closeMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96179 LEXMATCH -MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:closeMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19331 LEXMATCH -MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:closeMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019910 LEXMATCH -MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:closeMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019910 LEXMATCH -MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:closeMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96179 LEXMATCH -MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:closeMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96180 LEXMATCH -MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:closeMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19332 LEXMATCH -MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:closeMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019911 LEXMATCH -MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:closeMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019911 LEXMATCH -MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:closeMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96180 LEXMATCH -MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96181 LEXMATCH -MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19333 LEXMATCH -MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019912 LEXMATCH -MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019912 LEXMATCH -MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96181 LEXMATCH -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96182 LEXMATCH -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19334 LEXMATCH -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019913 LEXMATCH -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019913 LEXMATCH -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96182 LEXMATCH -MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:closeMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96183 LEXMATCH -MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:closeMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19335 LEXMATCH -MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:closeMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019914 LEXMATCH -MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:closeMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019914 LEXMATCH -MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:closeMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96183 LEXMATCH -MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96184 LEXMATCH -MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16848 LEXMATCH -MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019915 LEXMATCH -MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019915 LEXMATCH -MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96184 LEXMATCH -MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:closeMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96185 LEXMATCH -MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:closeMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19336 LEXMATCH -MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:closeMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019916 LEXMATCH -MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:closeMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019916 LEXMATCH -MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:closeMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96185 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617352 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96186 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16849 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019917 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019917 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617352 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96186 LEXMATCH -MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96187 LEXMATCH -MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19337 LEXMATCH -MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019918 LEXMATCH -MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019918 LEXMATCH -MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96187 LEXMATCH -MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:closeMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96188 LEXMATCH -MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:closeMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19338 LEXMATCH -MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:closeMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019919 LEXMATCH -MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:closeMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019919 LEXMATCH -MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:closeMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96188 LEXMATCH -MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:closeMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96190 LEXMATCH -MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:closeMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19339 LEXMATCH -MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:closeMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019920 LEXMATCH -MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:closeMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019920 LEXMATCH -MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:closeMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96190 LEXMATCH -MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96191 LEXMATCH -MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19340 LEXMATCH -MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019921 LEXMATCH -MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019921 LEXMATCH -MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:closeMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96191 LEXMATCH -MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96192 LEXMATCH -MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19341 LEXMATCH -MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019922 LEXMATCH -MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019922 LEXMATCH -MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:closeMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96192 LEXMATCH -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96193 LEXMATCH -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19342 LEXMATCH -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019923 LEXMATCH -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019923 LEXMATCH -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:closeMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96193 LEXMATCH -MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96194 LEXMATCH -MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19343 LEXMATCH -MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019924 LEXMATCH -MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019924 LEXMATCH -MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96194 LEXMATCH -MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96195 LEXMATCH -MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19344 LEXMATCH -MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019925 LEXMATCH -MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019925 LEXMATCH -MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:closeMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96195 LEXMATCH -MONDO:0019926 X small rings skos:closeMatch Orphanet:96201 X small rings semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96201 LEXMATCH -MONDO:0019926 X small rings skos:closeMatch Orphanet:96201 X small rings semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19345 LEXMATCH -MONDO:0019926 X small rings skos:closeMatch Orphanet:96201 X small rings semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019926 LEXMATCH -MONDO:0019926 X small rings skos:closeMatch Orphanet:96201 X small rings semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019926 LEXMATCH -MONDO:0019926 X small rings skos:closeMatch Orphanet:96201 X small rings semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96201 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048228 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265498 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96263 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5676 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019928 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019928 LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96263 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265499 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96264 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5679 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019929 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019929 LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96264 LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96265 LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16851 LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019930 LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019930 LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96265 LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96266 LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16852 LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019931 LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019931 LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96266 LEXMATCH -MONDO:0019932 isolated partial vaginal agenesis skos:closeMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96269 LEXMATCH -MONDO:0019932 isolated partial vaginal agenesis skos:closeMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19347 LEXMATCH -MONDO:0019932 isolated partial vaginal agenesis skos:closeMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019932 LEXMATCH -MONDO:0019932 isolated partial vaginal agenesis skos:closeMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019932 LEXMATCH -MONDO:0019932 isolated partial vaginal agenesis skos:closeMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96269 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000599 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001206 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:963 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5725 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019933 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019933 LEXMATCH -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:963 LEXMATCH -MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 LEXMATCH -MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96321 LEXMATCH -MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19348 LEXMATCH -MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019934 LEXMATCH -MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019934 LEXMATCH -MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96321 LEXMATCH -MONDO:0019935 isochromosome Y skos:closeMatch Orphanet:96325 Isochromosome Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19349 LEXMATCH -MONDO:0019935 isochromosome Y skos:closeMatch Orphanet:96325 Isochromosome Y semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019935 LEXMATCH -MONDO:0019935 isochromosome Y skos:closeMatch Orphanet:96325 Isochromosome Y semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019935 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:96346 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19351 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019938 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019938 LEXMATCH -MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:96346 LEXMATCH -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:970 LEXMATCH -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3976 LEXMATCH -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019941 LEXMATCH -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019941 LEXMATCH -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:970 LEXMATCH -MONDO:0019942 distal arthrogryposis skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97120 LEXMATCH -MONDO:0019942 distal arthrogryposis skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:786 LEXMATCH -MONDO:0019942 distal arthrogryposis skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019942 LEXMATCH -MONDO:0019942 distal arthrogryposis skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019942 LEXMATCH -MONDO:0019942 distal arthrogryposis skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97120 LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:972 LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1512 LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019943 LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019943 LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:972 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058554 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013743 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97214 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6323 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019944 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019944 LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97214 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041307 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263610 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97230 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19353 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019945 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019945 LEXMATCH -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97230 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606072 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97238 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9164 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019947 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019947 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606072 LEXMATCH -MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97238 LEXMATCH -MONDO:0019948 reducing body myopathy skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97239 LEXMATCH -MONDO:0019948 reducing body myopathy skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12162 LEXMATCH -MONDO:0019948 reducing body myopathy skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019948 LEXMATCH -MONDO:0019948 reducing body myopathy skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019948 LEXMATCH -MONDO:0019948 reducing body myopathy skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97239 LEXMATCH -MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270969 LEXMATCH -MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97240 LEXMATCH -MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19354 LEXMATCH -MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019949 LEXMATCH -MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019949 LEXMATCH -MONDO:0019949 zebra body myopathy skos:closeMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97240 LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699743 LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97242 LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9138 LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019950 LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019950 LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97242 LEXMATCH -MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 LEXMATCH -MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97244 LEXMATCH -MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4723 LEXMATCH -MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019951 LEXMATCH -MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019951 LEXMATCH -MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97244 LEXMATCH -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062547 LEXMATCH -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97245 LEXMATCH -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5898 LEXMATCH -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019952 LEXMATCH -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019952 LEXMATCH -MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97245 LEXMATCH -MONDO:0019953 mega-cisterna magna skos:closeMatch Orphanet:97252 Mega-cisterna magna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97252 LEXMATCH -MONDO:0019953 mega-cisterna magna skos:closeMatch Orphanet:97252 Mega-cisterna magna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19355 LEXMATCH -MONDO:0019953 mega-cisterna magna skos:closeMatch Orphanet:97252 Mega-cisterna magna semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019953 LEXMATCH -MONDO:0019953 mega-cisterna magna skos:closeMatch Orphanet:97252 Mega-cisterna magna semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019953 LEXMATCH -MONDO:0019953 mega-cisterna magna skos:closeMatch Orphanet:97252 Mega-cisterna magna semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97252 LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97253 LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13034 LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of pancreas LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019954 LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019954 LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97253 LEXMATCH -MONDO:0019955 GRFoma skos:closeMatch Orphanet:97261 GRFoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97261 LEXMATCH -MONDO:0019955 GRFoma skos:closeMatch Orphanet:97261 GRFoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19356 LEXMATCH -MONDO:0019955 GRFoma skos:closeMatch Orphanet:97261 GRFoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019955 LEXMATCH -MONDO:0019955 GRFoma skos:closeMatch Orphanet:97261 GRFoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019955 LEXMATCH -MONDO:0019955 GRFoma skos:closeMatch Orphanet:97261 GRFoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97261 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014581 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014038 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97275 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19357 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019956 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019956 LEXMATCH -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97275 LEXMATCH -MONDO:0019957 PPoma skos:closeMatch Orphanet:97278 PPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97278 LEXMATCH -MONDO:0019957 PPoma skos:closeMatch Orphanet:97278 PPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19358 LEXMATCH -MONDO:0019957 PPoma skos:closeMatch Orphanet:97278 PPoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019957 LEXMATCH -MONDO:0019957 PPoma skos:closeMatch Orphanet:97278 PPoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019957 LEXMATCH -MONDO:0019957 PPoma skos:closeMatch Orphanet:97278 PPoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97278 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018404 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017689 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97280 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2496 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019959 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019959 LEXMATCH -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97280 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047430 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011993 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97282 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3787 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cholera LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdha syndrome LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019960 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019960 LEXMATCH -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97282 LEXMATCH -MONDO:0019962 thyroid lymphoma skos:closeMatch Orphanet:97285 Thyroid lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97285 LEXMATCH -MONDO:0019962 thyroid lymphoma skos:closeMatch Orphanet:97285 Thyroid lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19359 LEXMATCH -MONDO:0019962 thyroid lymphoma skos:closeMatch Orphanet:97285 Thyroid lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019962 LEXMATCH -MONDO:0019962 thyroid lymphoma skos:closeMatch Orphanet:97285 Thyroid lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019962 LEXMATCH -MONDO:0019962 thyroid lymphoma skos:closeMatch Orphanet:97285 Thyroid lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97285 LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97287 LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19360 LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchial neuroendocrine tumor LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019963 LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019963 LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97287 LEXMATCH -MONDO:0019964 thymic neuroendocrine tumor skos:closeMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97289 LEXMATCH -MONDO:0019964 thymic neuroendocrine tumor skos:closeMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19361 LEXMATCH -MONDO:0019964 thymic neuroendocrine tumor skos:closeMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019964 LEXMATCH -MONDO:0019964 thymic neuroendocrine tumor skos:closeMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019964 LEXMATCH -MONDO:0019964 thymic neuroendocrine tumor skos:closeMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97289 LEXMATCH -MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064242 LEXMATCH -MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97332 LEXMATCH -MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9690 LEXMATCH -MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019967 LEXMATCH -MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019967 LEXMATCH -MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97332 LEXMATCH -MONDO:0019969 panner disease skos:closeMatch Orphanet:97336 Panner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97336 LEXMATCH -MONDO:0019969 panner disease skos:closeMatch Orphanet:97336 Panner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19365 LEXMATCH -MONDO:0019969 panner disease skos:closeMatch Orphanet:97336 Panner disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019969 LEXMATCH -MONDO:0019969 panner disease skos:closeMatch Orphanet:97336 Panner disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019969 LEXMATCH -MONDO:0019969 panner disease skos:closeMatch Orphanet:97336 Panner disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97336 LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063585 LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97337 LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19366 LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019970 LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019970 LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97337 LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97338 LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19367 LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019971 LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019971 LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97338 LEXMATCH -MONDO:0019972 dural sinus malformation skos:closeMatch Orphanet:97339 Dural sinus malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97339 LEXMATCH -MONDO:0019972 dural sinus malformation skos:closeMatch Orphanet:97339 Dural sinus malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19368 LEXMATCH -MONDO:0019972 dural sinus malformation skos:closeMatch Orphanet:97339 Dural sinus malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019972 LEXMATCH -MONDO:0019972 dural sinus malformation skos:closeMatch Orphanet:97339 Dural sinus malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019972 LEXMATCH -MONDO:0019972 dural sinus malformation skos:closeMatch Orphanet:97339 Dural sinus malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97339 LEXMATCH -MONDO:0019973 persistent placoid maculopathy skos:closeMatch Orphanet:97341 Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97341 LEXMATCH -MONDO:0019973 persistent placoid maculopathy skos:closeMatch Orphanet:97341 Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19369 LEXMATCH -MONDO:0019973 persistent placoid maculopathy skos:closeMatch Orphanet:97341 Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019973 LEXMATCH -MONDO:0019973 persistent placoid maculopathy skos:closeMatch Orphanet:97341 Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019973 LEXMATCH -MONDO:0019973 persistent placoid maculopathy skos:closeMatch Orphanet:97341 Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97341 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029400 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030783 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97352 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10014 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019975 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019975 LEXMATCH -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97352 LEXMATCH -MONDO:0019976 dementia pugilistica skos:closeMatch Orphanet:97353 Dementia pugilistica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97353 LEXMATCH -MONDO:0019976 dementia pugilistica skos:closeMatch Orphanet:97353 Dementia pugilistica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19371 LEXMATCH -MONDO:0019976 dementia pugilistica skos:closeMatch Orphanet:97353 Dementia pugilistica semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019976 LEXMATCH -MONDO:0019976 dementia pugilistica skos:closeMatch Orphanet:97353 Dementia pugilistica semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019976 LEXMATCH -MONDO:0019976 dementia pugilistica skos:closeMatch Orphanet:97353 Dementia pugilistica semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97353 LEXMATCH -MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:closeMatch Orphanet:97355 Caribbean parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97355 LEXMATCH -MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:closeMatch Orphanet:97355 Caribbean parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19372 LEXMATCH -MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:closeMatch Orphanet:97355 Caribbean parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019977 LEXMATCH -MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:closeMatch Orphanet:97355 Caribbean parkinsonism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019977 LEXMATCH -MONDO:0019977 parkinsonism with dementia of Guadeloupe skos:closeMatch Orphanet:97355 Caribbean parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97355 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97360 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:312 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019978 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019978 LEXMATCH -MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97360 LEXMATCH -MONDO:0019979 renal hypoplasia, unilateral skos:closeMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97361 LEXMATCH -MONDO:0019979 renal hypoplasia, unilateral skos:closeMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19373 LEXMATCH -MONDO:0019979 renal hypoplasia, unilateral skos:closeMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019979 LEXMATCH -MONDO:0019979 renal hypoplasia, unilateral skos:closeMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019979 LEXMATCH -MONDO:0019979 renal hypoplasia, unilateral skos:closeMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97361 LEXMATCH -MONDO:0019980 renal hypoplasia, bilateral skos:closeMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97362 LEXMATCH -MONDO:0019980 renal hypoplasia, bilateral skos:closeMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19374 LEXMATCH -MONDO:0019980 renal hypoplasia, bilateral skos:closeMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019980 LEXMATCH -MONDO:0019980 renal hypoplasia, bilateral skos:closeMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019980 LEXMATCH -MONDO:0019980 renal hypoplasia, bilateral skos:closeMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97362 LEXMATCH -MONDO:0019981 unilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97363 LEXMATCH -MONDO:0019981 unilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19375 LEXMATCH -MONDO:0019981 unilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019981 LEXMATCH -MONDO:0019981 unilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019981 LEXMATCH -MONDO:0019981 unilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97363 LEXMATCH -MONDO:0019982 bilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97364 LEXMATCH -MONDO:0019982 bilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9517 LEXMATCH -MONDO:0019982 bilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019982 LEXMATCH -MONDO:0019982 bilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019982 LEXMATCH -MONDO:0019982 bilateral multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97364 LEXMATCH -MONDO:0019983 multiloculated renal cyst skos:closeMatch Orphanet:97366 Multiloculated renal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97366 LEXMATCH -MONDO:0019983 multiloculated renal cyst skos:closeMatch Orphanet:97366 Multiloculated renal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19376 LEXMATCH -MONDO:0019983 multiloculated renal cyst skos:closeMatch Orphanet:97366 Multiloculated renal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019983 LEXMATCH -MONDO:0019983 multiloculated renal cyst skos:closeMatch Orphanet:97366 Multiloculated renal cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019983 LEXMATCH -MONDO:0019983 multiloculated renal cyst skos:closeMatch Orphanet:97366 Multiloculated renal cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97366 LEXMATCH -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:closeMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97367 LEXMATCH -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:closeMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19377 LEXMATCH -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:closeMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019984 LEXMATCH -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:closeMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019984 LEXMATCH -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:closeMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97367 LEXMATCH -MONDO:0019985 drug-related renal tubular dysgenesis skos:closeMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97368 LEXMATCH -MONDO:0019985 drug-related renal tubular dysgenesis skos:closeMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19378 LEXMATCH -MONDO:0019985 drug-related renal tubular dysgenesis skos:closeMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019985 LEXMATCH -MONDO:0019985 drug-related renal tubular dysgenesis skos:closeMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019985 LEXMATCH -MONDO:0019985 drug-related renal tubular dysgenesis skos:closeMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97368 LEXMATCH -MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:closeMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97563 LEXMATCH -MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:closeMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19379 LEXMATCH -MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:closeMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019988 LEXMATCH -MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:closeMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019988 LEXMATCH -MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:closeMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97563 LEXMATCH -MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:closeMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97564 LEXMATCH -MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:closeMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19380 LEXMATCH -MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:closeMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019989 LEXMATCH -MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:closeMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019989 LEXMATCH -MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:closeMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97564 LEXMATCH -MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97566 LEXMATCH -MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12740 LEXMATCH -MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019990 LEXMATCH -MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019990 LEXMATCH -MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97566 LEXMATCH -MONDO:0019991 immunotactoid glomerulopathy skos:closeMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97567 LEXMATCH -MONDO:0019991 immunotactoid glomerulopathy skos:closeMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12048 LEXMATCH -MONDO:0019991 immunotactoid glomerulopathy skos:closeMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019991 LEXMATCH -MONDO:0019991 immunotactoid glomerulopathy skos:closeMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019991 LEXMATCH -MONDO:0019991 immunotactoid glomerulopathy skos:closeMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97567 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037126 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97593 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10758 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019992 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019992 LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97593 LEXMATCH -MONDO:0019993 congenital renal artery stenosis skos:closeMatch Orphanet:97598 Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97598 LEXMATCH -MONDO:0019993 congenital renal artery stenosis skos:closeMatch Orphanet:97598 Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19381 LEXMATCH -MONDO:0019993 congenital renal artery stenosis skos:closeMatch Orphanet:97598 Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019993 LEXMATCH -MONDO:0019993 congenital renal artery stenosis skos:closeMatch Orphanet:97598 Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019993 LEXMATCH -MONDO:0019993 congenital renal artery stenosis skos:closeMatch Orphanet:97598 Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97598 LEXMATCH -MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97678 LEXMATCH -MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19382 LEXMATCH -MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019994 LEXMATCH -MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019994 LEXMATCH -MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97678 LEXMATCH -MONDO:0019998 gastroduodenal malformation skos:closeMatch Orphanet:97944 Gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19383 LEXMATCH -MONDO:0019998 gastroduodenal malformation skos:closeMatch Orphanet:97944 Gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019998 LEXMATCH -MONDO:0019998 gastroduodenal malformation skos:closeMatch Orphanet:97944 Gastroduodenal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019998 LEXMATCH -MONDO:0019999 intestinal malformation skos:closeMatch Orphanet:97945 Intestinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19384 LEXMATCH -MONDO:0019999 intestinal malformation skos:closeMatch Orphanet:97945 Intestinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019999 LEXMATCH -MONDO:0019999 intestinal malformation skos:closeMatch Orphanet:97945 Intestinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0019999 LEXMATCH -MONDO:0020001 respiratory or thoracic malformation skos:closeMatch Orphanet:97957 Respiratory or thoracic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19385 LEXMATCH -MONDO:0020001 respiratory or thoracic malformation skos:closeMatch Orphanet:97957 Respiratory or thoracic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020001 LEXMATCH -MONDO:0020001 respiratory or thoracic malformation skos:closeMatch Orphanet:97957 Respiratory or thoracic malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020001 LEXMATCH -MONDO:0020007 absence of the pulmonary artery skos:closeMatch Orphanet:980 Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:980 LEXMATCH -MONDO:0020007 absence of the pulmonary artery skos:closeMatch Orphanet:980 Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18712 LEXMATCH -MONDO:0020007 absence of the pulmonary artery skos:closeMatch Orphanet:980 Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020007 LEXMATCH -MONDO:0020007 absence of the pulmonary artery skos:closeMatch Orphanet:980 Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020007 LEXMATCH -MONDO:0020007 absence of the pulmonary artery skos:closeMatch Orphanet:980 Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:980 LEXMATCH -MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0597039 LEXMATCH -MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98010 LEXMATCH -MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19386 LEXMATCH -MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020010 LEXMATCH -MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020010 LEXMATCH -MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98010 LEXMATCH -MONDO:0020018 cranial malformation skos:closeMatch Orphanet:98038 Cranial malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19390 LEXMATCH -MONDO:0020018 cranial malformation skos:closeMatch Orphanet:98038 Cranial malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020018 LEXMATCH -MONDO:0020018 cranial malformation skos:closeMatch Orphanet:98038 Cranial malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020018 LEXMATCH -MONDO:0020019 digestive tract malformation skos:closeMatch Orphanet:98039 Digestive tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19391 LEXMATCH -MONDO:0020019 digestive tract malformation skos:closeMatch Orphanet:98039 Digestive tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020019 LEXMATCH -MONDO:0020019 digestive tract malformation skos:closeMatch Orphanet:98039 Digestive tract malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020019 LEXMATCH -MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen skos:closeMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19392 LEXMATCH -MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen skos:closeMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020020 LEXMATCH -MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen skos:closeMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020020 LEXMATCH -MONDO:0020022 central nervous system malformation skos:closeMatch Orphanet:98044 Central nervous system malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19394 LEXMATCH -MONDO:0020022 central nervous system malformation skos:closeMatch Orphanet:98044 Central nervous system malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020022 LEXMATCH -MONDO:0020022 central nervous system malformation skos:closeMatch Orphanet:98044 Central nervous system malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020022 LEXMATCH -MONDO:0020023 respiratory or mediastinal malformation skos:closeMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19395 LEXMATCH -MONDO:0020023 respiratory or mediastinal malformation skos:closeMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020023 LEXMATCH -MONDO:0020023 respiratory or mediastinal malformation skos:closeMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020023 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020040 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751824 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98085 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8538 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020040 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020040 LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98085 LEXMATCH -MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:closeMatch Orphanet:98095 Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19412 LEXMATCH -MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:closeMatch Orphanet:98095 Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020043 LEXMATCH -MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:closeMatch Orphanet:98095 Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020043 LEXMATCH -MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:closeMatch Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19413 LEXMATCH -MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:closeMatch Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020044 LEXMATCH -MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:closeMatch Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020044 LEXMATCH -MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:closeMatch Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19415 LEXMATCH -MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:closeMatch Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020046 LEXMATCH -MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:closeMatch Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020046 LEXMATCH -MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:closeMatch Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19416 LEXMATCH -MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:closeMatch Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020047 LEXMATCH -MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:closeMatch Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020047 LEXMATCH -MONDO:0020048 internal carotid agenesis skos:closeMatch Orphanet:981 Internal carotid absence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:981 LEXMATCH -MONDO:0020048 internal carotid agenesis skos:closeMatch Orphanet:981 Internal carotid absence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3012 LEXMATCH -MONDO:0020048 internal carotid agenesis skos:closeMatch Orphanet:981 Internal carotid absence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020048 LEXMATCH -MONDO:0020048 internal carotid agenesis skos:closeMatch Orphanet:981 Internal carotid absence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020048 LEXMATCH -MONDO:0020048 internal carotid agenesis skos:closeMatch Orphanet:981 Internal carotid absence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:981 LEXMATCH -MONDO:0020049 autosomal anomaly skos:closeMatch Orphanet:98127 Autosomal anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19417 LEXMATCH -MONDO:0020049 autosomal anomaly skos:closeMatch Orphanet:98127 Autosomal anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020049 LEXMATCH -MONDO:0020049 autosomal anomaly skos:closeMatch Orphanet:98127 Autosomal anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020049 LEXMATCH -MONDO:0020058 gonosome anomaly skos:closeMatch Orphanet:98155 Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98155 LEXMATCH -MONDO:0020058 gonosome anomaly skos:closeMatch Orphanet:98155 Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19426 LEXMATCH -MONDO:0020058 gonosome anomaly skos:closeMatch Orphanet:98155 Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020058 LEXMATCH -MONDO:0020058 gonosome anomaly skos:closeMatch Orphanet:98155 Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020058 LEXMATCH -MONDO:0020058 gonosome anomaly skos:closeMatch Orphanet:98155 Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98155 LEXMATCH -MONDO:0020064 pulmonary valve agenesis skos:closeMatch Orphanet:982 Pulmonary valve agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4597 LEXMATCH -MONDO:0020064 pulmonary valve agenesis skos:closeMatch Orphanet:982 Pulmonary valve agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020064 LEXMATCH -MONDO:0020064 pulmonary valve agenesis skos:closeMatch Orphanet:982 Pulmonary valve agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020064 LEXMATCH -MONDO:0020065 combined dystonia skos:closeMatch Orphanet:98203 Combined dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19432 LEXMATCH -MONDO:0020065 combined dystonia skos:closeMatch Orphanet:98203 Combined dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020065 LEXMATCH -MONDO:0020065 combined dystonia skos:closeMatch Orphanet:98203 Combined dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020065 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014316 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013720 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98249 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6322 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020066 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020066 LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98249 LEXMATCH -MONDO:0020070 neonatal epilepsy syndrome skos:closeMatch Orphanet:98257 Neonatal epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19435 LEXMATCH -MONDO:0020070 neonatal epilepsy syndrome skos:closeMatch Orphanet:98257 Neonatal epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020070 LEXMATCH -MONDO:0020070 neonatal epilepsy syndrome skos:closeMatch Orphanet:98257 Neonatal epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020070 LEXMATCH -MONDO:0020071 infantile epilepsy syndrome skos:closeMatch Orphanet:98258 Infantile epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19436 LEXMATCH -MONDO:0020071 infantile epilepsy syndrome skos:closeMatch Orphanet:98258 Infantile epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020071 LEXMATCH -MONDO:0020071 infantile epilepsy syndrome skos:closeMatch Orphanet:98258 Infantile epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020071 LEXMATCH -MONDO:0020072 childhood-onset epilepsy syndrome skos:closeMatch Orphanet:98259 Childhood-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19437 LEXMATCH -MONDO:0020072 childhood-onset epilepsy syndrome skos:closeMatch Orphanet:98259 Childhood-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020072 LEXMATCH -MONDO:0020072 childhood-onset epilepsy syndrome skos:closeMatch Orphanet:98259 Childhood-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020072 LEXMATCH -MONDO:0020073 adolescent-onset epilepsy syndrome skos:closeMatch Orphanet:98260 Adolescent-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19438 LEXMATCH -MONDO:0020073 adolescent-onset epilepsy syndrome skos:closeMatch Orphanet:98260 Adolescent-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020073 LEXMATCH -MONDO:0020073 adolescent-onset epilepsy syndrome skos:closeMatch Orphanet:98260 Adolescent-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020073 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98261 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7140 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020074 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020074 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98261 LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98267 LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19439 LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym monogenic obesity due to a leptin-melanocortin pathway anomaly LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020075 LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020075 LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98267 LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028576 LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98274 LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9319 LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020076 LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020076 LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98274 LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98275 LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9351 LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020077 LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020077 LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98275 LEXMATCH -MONDO:0020082 dendritic cell tumor skos:closeMatch Orphanet:98289 Dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98289 LEXMATCH -MONDO:0020082 dendritic cell tumor skos:closeMatch Orphanet:98289 Dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8317 LEXMATCH -MONDO:0020082 dendritic cell tumor skos:closeMatch Orphanet:98289 Dendritic cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020082 LEXMATCH -MONDO:0020082 dendritic cell tumor skos:closeMatch Orphanet:98289 Dendritic cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020082 LEXMATCH -MONDO:0020082 dendritic cell tumor skos:closeMatch Orphanet:98289 Dendritic cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98289 LEXMATCH -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:closeMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98290 LEXMATCH -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:closeMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19443 LEXMATCH -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:closeMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020083 LEXMATCH -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:closeMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020083 LEXMATCH -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:closeMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98290 LEXMATCH -MONDO:0020087 hereditary lipodystrophy skos:closeMatch Orphanet:98305 Genetic lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98305 LEXMATCH -MONDO:0020087 hereditary lipodystrophy skos:closeMatch Orphanet:98305 Genetic lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12597 LEXMATCH -MONDO:0020087 hereditary lipodystrophy skos:closeMatch Orphanet:98305 Genetic lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020087 LEXMATCH -MONDO:0020087 hereditary lipodystrophy skos:closeMatch Orphanet:98305 Genetic lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020087 LEXMATCH -MONDO:0020087 hereditary lipodystrophy skos:closeMatch Orphanet:98305 Genetic lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98305 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271694 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98306 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11962 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020088 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020088 LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98306 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049287 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877192 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98307 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12602 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020089 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020089 LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98307 LEXMATCH -MONDO:0020099 inherited sideroblastic anemia skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98362 LEXMATCH -MONDO:0020099 inherited sideroblastic anemia skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19453 LEXMATCH -MONDO:0020099 inherited sideroblastic anemia skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020099 LEXMATCH -MONDO:0020099 inherited sideroblastic anemia skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020099 LEXMATCH -MONDO:0020099 inherited sideroblastic anemia skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98362 LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262483 LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98365 LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19456 LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020102 LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020102 LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98365 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002046 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002880 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98375 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5870 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020108 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020108 LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98375 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037322 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:984 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9119 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020110 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020110 LEXMATCH -MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:984 LEXMATCH -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:closeMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98415 LEXMATCH -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:closeMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19464 LEXMATCH -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:closeMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020112 LEXMATCH -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:closeMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020112 LEXMATCH -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:closeMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98415 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038184 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98421 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19465 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020113 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020113 LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98421 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036062 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98428 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19467 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020115 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020115 LEXMATCH -MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98428 LEXMATCH -MONDO:0020117 alpha granule disease skos:closeMatch Orphanet:98455 Alpha granule disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98455 LEXMATCH -MONDO:0020117 alpha granule disease skos:closeMatch Orphanet:98455 Alpha granule disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19469 LEXMATCH -MONDO:0020117 alpha granule disease skos:closeMatch Orphanet:98455 Alpha granule disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020117 LEXMATCH -MONDO:0020117 alpha granule disease skos:closeMatch Orphanet:98455 Alpha granule disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020117 LEXMATCH -MONDO:0020117 alpha granule disease skos:closeMatch Orphanet:98455 Alpha granule disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98455 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:206634 Genetic skeletal muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020120 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:206634 Genetic skeletal muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0020120 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533847 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98472 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19471 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020120 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020120 LEXMATCH -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98472 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028356 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98473 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7922 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020121 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020121 LEXMATCH -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98473 LEXMATCH -MONDO:0020122 acquired idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98482 LEXMATCH -MONDO:0020122 acquired idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9128 LEXMATCH -MONDO:0020122 acquired idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020122 LEXMATCH -MONDO:0020122 acquired idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020122 LEXMATCH -MONDO:0020122 acquired idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98482 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068836 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270984 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98486 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19472 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020123 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020123 LEXMATCH -MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98486 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020511 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751950 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98491 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19473 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020124 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020124 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98491 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98495 Genetic neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020124 LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98495 Genetic neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0020124 LEXMATCH -MONDO:0020127 hereditary peripheral neuropathy skos:closeMatch Orphanet:98497 Genetic peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10711 LEXMATCH -MONDO:0020127 hereditary peripheral neuropathy skos:closeMatch Orphanet:98497 Genetic peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020127 LEXMATCH -MONDO:0020127 hereditary peripheral neuropathy skos:closeMatch Orphanet:98497 Genetic peripheral neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020127 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028003 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016472 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98503 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19477 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020128 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020128 LEXMATCH -MONDO:0020128 motor neuron disorder skos:closeMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98503 LEXMATCH -MONDO:0020129 acquired motor neuron disease skos:closeMatch Orphanet:98506 Acquired motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19479 LEXMATCH -MONDO:0020129 acquired motor neuron disease skos:closeMatch Orphanet:98506 Acquired motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020129 LEXMATCH -MONDO:0020129 acquired motor neuron disease skos:closeMatch Orphanet:98506 Acquired motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020129 LEXMATCH -MONDO:0020135 pontocerebellar hypoplasia skos:closeMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98523 LEXMATCH -MONDO:0020135 pontocerebellar hypoplasia skos:closeMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10977 LEXMATCH -MONDO:0020135 pontocerebellar hypoplasia skos:closeMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020135 LEXMATCH -MONDO:0020135 pontocerebellar hypoplasia skos:closeMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020135 LEXMATCH -MONDO:0020135 pontocerebellar hypoplasia skos:closeMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98523 LEXMATCH -MONDO:0020143 cerebral lipidosis with dementia skos:closeMatch Orphanet:98544 Cerebral lipidosis with dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19491 LEXMATCH -MONDO:0020143 cerebral lipidosis with dementia skos:closeMatch Orphanet:98544 Cerebral lipidosis with dementia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020143 LEXMATCH -MONDO:0020143 cerebral lipidosis with dementia skos:closeMatch Orphanet:98544 Cerebral lipidosis with dementia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020143 LEXMATCH -MONDO:0020153 cryptophthalmia skos:closeMatch Orphanet:98562 Cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98562 LEXMATCH -MONDO:0020153 cryptophthalmia skos:closeMatch Orphanet:98562 Cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10505 LEXMATCH -MONDO:0020153 cryptophthalmia skos:closeMatch Orphanet:98562 Cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020153 LEXMATCH -MONDO:0020153 cryptophthalmia skos:closeMatch Orphanet:98562 Cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020153 LEXMATCH -MONDO:0020153 cryptophthalmia skos:closeMatch Orphanet:98562 Cryptophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98562 LEXMATCH -MONDO:0020161 congenital ectropion skos:closeMatch Orphanet:98570 Congenital ectropion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98570 LEXMATCH -MONDO:0020161 congenital ectropion skos:closeMatch Orphanet:98570 Congenital ectropion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19502 LEXMATCH -MONDO:0020161 congenital ectropion skos:closeMatch Orphanet:98570 Congenital ectropion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020161 LEXMATCH -MONDO:0020161 congenital ectropion skos:closeMatch Orphanet:98570 Congenital ectropion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020161 LEXMATCH -MONDO:0020161 congenital ectropion skos:closeMatch Orphanet:98570 Congenital ectropion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98570 LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315777 LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98625 LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19518 LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020212 LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020212 LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98625 LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038457 LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98626 LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19519 LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020213 LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020213 LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98626 LEXMATCH -MONDO:0020214 posterior corneal dystrophy skos:closeMatch Orphanet:98627 Posterior corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19520 LEXMATCH -MONDO:0020214 posterior corneal dystrophy skos:closeMatch Orphanet:98627 Posterior corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020214 LEXMATCH -MONDO:0020214 posterior corneal dystrophy skos:closeMatch Orphanet:98627 Posterior corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020214 LEXMATCH -MONDO:0020246 inherited vitreoretinopathy skos:closeMatch Orphanet:98668 Vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19539 LEXMATCH -MONDO:0020246 inherited vitreoretinopathy skos:closeMatch Orphanet:98668 Vitreoretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020246 LEXMATCH -MONDO:0020246 inherited vitreoretinopathy skos:closeMatch Orphanet:98668 Vitreoretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020246 LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061323 LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98671 LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19540 LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020249 LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020249 LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98671 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338508 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98672 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11972 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020250 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020250 LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98672 LEXMATCH -MONDO:0020257 supranuclear oculomotor palsy skos:closeMatch Orphanet:98687 Supranuclear eye movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19546 LEXMATCH -MONDO:0020257 supranuclear oculomotor palsy skos:closeMatch Orphanet:98687 Supranuclear eye movement disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020257 LEXMATCH -MONDO:0020257 supranuclear oculomotor palsy skos:closeMatch Orphanet:98687 Supranuclear eye movement disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020257 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046851 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98715 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19549 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020283 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020283 LEXMATCH -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98715 LEXMATCH -MONDO:0020289 congenital tricuspid malformation skos:closeMatch Orphanet:98721 Congenital tricuspid malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19555 LEXMATCH -MONDO:0020289 congenital tricuspid malformation skos:closeMatch Orphanet:98721 Congenital tricuspid malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020289 LEXMATCH -MONDO:0020289 congenital tricuspid malformation skos:closeMatch Orphanet:98721 Congenital tricuspid malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020289 LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98722 LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:802 LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym atrioventricular canal defect LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atrioventricular septal defect LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020290 LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020290 LEXMATCH -MONDO:0020290 familial atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98722 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050053 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064962 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344963 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98723 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2922 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020291 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020291 LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98723 LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061080 LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98724 LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19556 LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020292 LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020292 LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98724 LEXMATCH -MONDO:0020295 congenital pulmonary veins anomaly skos:closeMatch Orphanet:98729 Congenital pulmonary veins anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19559 LEXMATCH -MONDO:0020295 congenital pulmonary veins anomaly skos:closeMatch Orphanet:98729 Congenital pulmonary veins anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020295 LEXMATCH -MONDO:0020295 congenital pulmonary veins anomaly skos:closeMatch Orphanet:98729 Congenital pulmonary veins anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020295 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003226 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98731 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19560 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020296 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020296 LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98731 LEXMATCH -MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:closeMatch Orphanet:98733 Noonan syndrome and Noonan-related syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19561 LEXMATCH -MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:closeMatch Orphanet:98733 Noonan syndrome and Noonan-related syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020297 LEXMATCH -MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:closeMatch Orphanet:98733 Noonan syndrome and Noonan-related syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020297 LEXMATCH -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98754 LEXMATCH -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16861 LEXMATCH -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020298 LEXMATCH -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020298 LEXMATCH -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98754 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696898 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98784 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11918 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020300 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020300 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98784 LEXMATCH -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:closeMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98793 LEXMATCH -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:closeMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19576 LEXMATCH -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:closeMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020301 LEXMATCH -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:closeMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020301 LEXMATCH -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:closeMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98793 LEXMATCH -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:closeMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98794 LEXMATCH -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:closeMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19577 LEXMATCH -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:closeMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020302 LEXMATCH -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:closeMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020302 LEXMATCH -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:closeMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98794 LEXMATCH -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98795 LEXMATCH -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19578 LEXMATCH -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020303 LEXMATCH -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020303 LEXMATCH -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:closeMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98795 LEXMATCH -MONDO:0020304 isochromosomy Yp skos:closeMatch Orphanet:98797 Isochromosomy Yp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98797 LEXMATCH -MONDO:0020304 isochromosomy Yp skos:closeMatch Orphanet:98797 Isochromosomy Yp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19579 LEXMATCH -MONDO:0020304 isochromosomy Yp skos:closeMatch Orphanet:98797 Isochromosomy Yp semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020304 LEXMATCH -MONDO:0020304 isochromosomy Yp skos:closeMatch Orphanet:98797 Isochromosomy Yp semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020304 LEXMATCH -MONDO:0020304 isochromosomy Yp skos:closeMatch Orphanet:98797 Isochromosomy Yp semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98797 LEXMATCH -MONDO:0020305 isochromosomy Yq skos:closeMatch Orphanet:98798 Isochromosomy Yq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98798 LEXMATCH -MONDO:0020305 isochromosomy Yq skos:closeMatch Orphanet:98798 Isochromosomy Yq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19580 LEXMATCH -MONDO:0020305 isochromosomy Yq skos:closeMatch Orphanet:98798 Isochromosomy Yq semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020305 LEXMATCH -MONDO:0020305 isochromosomy Yq skos:closeMatch Orphanet:98798 Isochromosomy Yq semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020305 LEXMATCH -MONDO:0020305 isochromosomy Yq skos:closeMatch Orphanet:98798 Isochromosomy Yq semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98798 LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:closeMatch Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98815 LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:closeMatch Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19581 LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:closeMatch Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020307 LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:closeMatch Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020307 LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:closeMatch Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98815 LEXMATCH -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type skos:closeMatch Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98816 LEXMATCH -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type skos:closeMatch Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19582 LEXMATCH -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type skos:closeMatch Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020308 LEXMATCH -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type skos:closeMatch Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020308 LEXMATCH -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type skos:closeMatch Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98816 LEXMATCH -MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98820 LEXMATCH -MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13295 LEXMATCH -MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020310 LEXMATCH -MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020310 LEXMATCH -MONDO:0020310 familial focal epilepsy with variable foci skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98820 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023480 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98823 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8225 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020311 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020311 LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98823 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98829 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:536 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020316 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020316 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98829 LEXMATCH -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98831 LEXMATCH -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19587 LEXMATCH -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020317 LEXMATCH -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020317 LEXMATCH -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98831 LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98834 LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:527 LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020320 LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020320 LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98834 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045516 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280141 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98835 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16863 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020321 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020321 LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98835 LEXMATCH -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 LEXMATCH -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 LEXMATCH -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 LEXMATCH -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036710 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292754 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98838 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19589 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020323 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020323 LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98838 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069643 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98839 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19590 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020324 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020324 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98839 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206180 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98841 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3112 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020325 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020325 LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98841 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056670 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98842 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6944 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020326 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020326 LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98842 LEXMATCH -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type skos:closeMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98843 LEXMATCH -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type skos:closeMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19591 LEXMATCH -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type skos:closeMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020327 LEXMATCH -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type skos:closeMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020327 LEXMATCH -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type skos:closeMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98843 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056452 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272203 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98848 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19595 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020331 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020331 LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98848 LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:closeMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98849 LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:closeMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19596 LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:closeMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020332 LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:closeMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020332 LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:closeMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98849 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056453 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112486 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98850 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19597 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020333 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020333 LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98850 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056450 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023461 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98851 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19598 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020334 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020334 LEXMATCH -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98851 LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98853 LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16865 LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020336 LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020336 LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98853 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98869 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2000 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020337 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020337 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98869 LEXMATCH -MONDO:0020338 adult pure red cell aplasia skos:closeMatch Orphanet:98872 Primary acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98872 LEXMATCH -MONDO:0020338 adult pure red cell aplasia skos:closeMatch Orphanet:98872 Primary acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10898 LEXMATCH -MONDO:0020338 adult pure red cell aplasia skos:closeMatch Orphanet:98872 Primary acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020338 LEXMATCH -MONDO:0020338 adult pure red cell aplasia skos:closeMatch Orphanet:98872 Primary acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020338 LEXMATCH -MONDO:0020338 adult pure red cell aplasia skos:closeMatch Orphanet:98872 Primary acquired pure red cell aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98872 LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98889 LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6011 LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020340 LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020340 LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98889 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066854 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868720 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98892 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12724 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020341 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020341 LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98892 LEXMATCH -MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98913 LEXMATCH -MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15022 LEXMATCH -MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postsynaptic congenital myasthenic syndromes LEXMATCH -MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020344 LEXMATCH -MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020344 LEXMATCH -MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98913 LEXMATCH -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98916 LEXMATCH -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16873 LEXMATCH -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020347 LEXMATCH -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020347 LEXMATCH -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98916 LEXMATCH -MONDO:0020348 acute motor and sensory axonal neuropathy skos:closeMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98917 LEXMATCH -MONDO:0020348 acute motor and sensory axonal neuropathy skos:closeMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19601 LEXMATCH -MONDO:0020348 acute motor and sensory axonal neuropathy skos:closeMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020348 LEXMATCH -MONDO:0020348 acute motor and sensory axonal neuropathy skos:closeMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020348 LEXMATCH -MONDO:0020348 acute motor and sensory axonal neuropathy skos:closeMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98917 LEXMATCH -MONDO:0020349 acute motor axonal neuropathy skos:closeMatch Orphanet:98918 Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98918 LEXMATCH -MONDO:0020349 acute motor axonal neuropathy skos:closeMatch Orphanet:98918 Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19602 LEXMATCH -MONDO:0020349 acute motor axonal neuropathy skos:closeMatch Orphanet:98918 Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020349 LEXMATCH -MONDO:0020349 acute motor axonal neuropathy skos:closeMatch Orphanet:98918 Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020349 LEXMATCH -MONDO:0020349 acute motor axonal neuropathy skos:closeMatch Orphanet:98918 Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98918 LEXMATCH -MONDO:0020351 Blake pouch cyst skos:closeMatch Orphanet:98922 Blake pouch cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98922 LEXMATCH -MONDO:0020351 Blake pouch cyst skos:closeMatch Orphanet:98922 Blake pouch cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19603 LEXMATCH -MONDO:0020351 Blake pouch cyst skos:closeMatch Orphanet:98922 Blake pouch cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020351 LEXMATCH -MONDO:0020351 Blake pouch cyst skos:closeMatch Orphanet:98922 Blake pouch cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020351 LEXMATCH -MONDO:0020351 Blake pouch cyst skos:closeMatch Orphanet:98922 Blake pouch cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98922 LEXMATCH -MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98933 LEXMATCH -MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19604 LEXMATCH -MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020352 LEXMATCH -MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020352 LEXMATCH -MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98933 LEXMATCH -MONDO:0020354 coloboma of choroid and retina skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98942 LEXMATCH -MONDO:0020354 coloboma of choroid and retina skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16875 LEXMATCH -MONDO:0020354 coloboma of choroid and retina skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020354 LEXMATCH -MONDO:0020354 coloboma of choroid and retina skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020354 LEXMATCH -MONDO:0020354 coloboma of choroid and retina skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98942 LEXMATCH -MONDO:0020355 coloboma of eye lens skos:closeMatch Orphanet:98943 Coloboma of eye lens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98943 LEXMATCH -MONDO:0020355 coloboma of eye lens skos:closeMatch Orphanet:98943 Coloboma of eye lens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1433 LEXMATCH -MONDO:0020355 coloboma of eye lens skos:closeMatch Orphanet:98943 Coloboma of eye lens semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020355 LEXMATCH -MONDO:0020355 coloboma of eye lens skos:closeMatch Orphanet:98943 Coloboma of eye lens semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020355 LEXMATCH -MONDO:0020355 coloboma of eye lens skos:closeMatch Orphanet:98943 Coloboma of eye lens semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98943 LEXMATCH -MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052642 LEXMATCH -MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98944 LEXMATCH -MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1434 LEXMATCH -MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020356 LEXMATCH -MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020356 LEXMATCH -MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98944 LEXMATCH -MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521573 LEXMATCH -MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98946 LEXMATCH -MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19605 LEXMATCH -MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020357 LEXMATCH -MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020357 LEXMATCH -MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98946 LEXMATCH -MONDO:0020359 congenital symblepharon skos:closeMatch Orphanet:98948 Congenital symblepharon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98948 LEXMATCH -MONDO:0020359 congenital symblepharon skos:closeMatch Orphanet:98948 Congenital symblepharon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19606 LEXMATCH -MONDO:0020359 congenital symblepharon skos:closeMatch Orphanet:98948 Congenital symblepharon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020359 LEXMATCH -MONDO:0020359 congenital symblepharon skos:closeMatch Orphanet:98948 Congenital symblepharon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020359 LEXMATCH -MONDO:0020359 congenital symblepharon skos:closeMatch Orphanet:98948 Congenital symblepharon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98948 LEXMATCH -MONDO:0020360 complete cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98949 LEXMATCH -MONDO:0020360 complete cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16876 LEXMATCH -MONDO:0020360 complete cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020360 LEXMATCH -MONDO:0020360 complete cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020360 LEXMATCH -MONDO:0020360 complete cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98949 LEXMATCH -MONDO:0020361 partial cryptophthalmia skos:closeMatch Orphanet:98950 Partial cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98950 LEXMATCH -MONDO:0020361 partial cryptophthalmia skos:closeMatch Orphanet:98950 Partial cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19607 LEXMATCH -MONDO:0020361 partial cryptophthalmia skos:closeMatch Orphanet:98950 Partial cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020361 LEXMATCH -MONDO:0020361 partial cryptophthalmia skos:closeMatch Orphanet:98950 Partial cryptophthalmia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020361 LEXMATCH -MONDO:0020361 partial cryptophthalmia skos:closeMatch Orphanet:98950 Partial cryptophthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98950 LEXMATCH -MONDO:0020362 inverse Marcus-Gunn phenomenon skos:closeMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98951 LEXMATCH -MONDO:0020362 inverse Marcus-Gunn phenomenon skos:closeMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19608 LEXMATCH -MONDO:0020362 inverse Marcus-Gunn phenomenon skos:closeMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020362 LEXMATCH -MONDO:0020362 inverse Marcus-Gunn phenomenon skos:closeMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020362 LEXMATCH -MONDO:0020362 inverse Marcus-Gunn phenomenon skos:closeMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98951 LEXMATCH -MONDO:0020363 honey-droplet corneal dystrophy skos:closeMatch Orphanet:98958 Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98958 LEXMATCH -MONDO:0020363 honey-droplet corneal dystrophy skos:closeMatch Orphanet:98958 Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19609 LEXMATCH -MONDO:0020363 honey-droplet corneal dystrophy skos:closeMatch Orphanet:98958 Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020363 LEXMATCH -MONDO:0020363 honey-droplet corneal dystrophy skos:closeMatch Orphanet:98958 Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020363 LEXMATCH -MONDO:0020363 honey-droplet corneal dystrophy skos:closeMatch Orphanet:98958 Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98958 LEXMATCH -MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98973 LEXMATCH -MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16882 LEXMATCH -MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020364 LEXMATCH -MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020364 LEXMATCH -MONDO:0020364 posterior polymorphous corneal dystrophy skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98973 LEXMATCH -MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98975 LEXMATCH -MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19610 LEXMATCH -MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020365 LEXMATCH -MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020365 LEXMATCH -MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98975 LEXMATCH -MONDO:0020366 congenital glaucoma skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym primary congenital glaucoma LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064032 LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2981140 LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98977 LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16883 LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020367 LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020367 LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98977 LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058653 LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98978 LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16485 LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020368 LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020368 LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98978 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057487 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0544008 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98979 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6033 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020369 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020369 LEXMATCH -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98979 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059200 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168173 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98980 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6125 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020370 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020370 LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98980 LEXMATCH -MONDO:0020371 essential iris atrophy skos:closeMatch Orphanet:98981 Essential iris atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98981 LEXMATCH -MONDO:0020371 essential iris atrophy skos:closeMatch Orphanet:98981 Essential iris atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19611 LEXMATCH -MONDO:0020371 essential iris atrophy skos:closeMatch Orphanet:98981 Essential iris atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020371 LEXMATCH -MONDO:0020371 essential iris atrophy skos:closeMatch Orphanet:98981 Essential iris atrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020371 LEXMATCH -MONDO:0020371 essential iris atrophy skos:closeMatch Orphanet:98981 Essential iris atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98981 LEXMATCH -MONDO:0020372 early-onset sutural cataract skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98985 LEXMATCH -MONDO:0020372 early-onset sutural cataract skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16885 LEXMATCH -MONDO:0020372 early-onset sutural cataract skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020372 LEXMATCH -MONDO:0020372 early-onset sutural cataract skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020372 LEXMATCH -MONDO:0020372 early-onset sutural cataract skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98985 LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98988 LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1140 LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020373 LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020373 LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98988 LEXMATCH -MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 LEXMATCH -MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98989 LEXMATCH -MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9508 LEXMATCH -MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020374 LEXMATCH -MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020374 LEXMATCH -MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98989 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007759 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057735 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98991 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16887 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020376 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020376 LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98991 LEXMATCH -MONDO:0020377 early-onset partial cataract skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98992 LEXMATCH -MONDO:0020377 early-onset partial cataract skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16888 LEXMATCH -MONDO:0020377 early-onset partial cataract skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020377 LEXMATCH -MONDO:0020377 early-onset partial cataract skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020377 LEXMATCH -MONDO:0020377 early-onset partial cataract skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98992 LEXMATCH -MONDO:0020378 early-onset posterior polar cataract skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98993 LEXMATCH -MONDO:0020378 early-onset posterior polar cataract skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16889 LEXMATCH -MONDO:0020378 early-onset posterior polar cataract skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020378 LEXMATCH -MONDO:0020378 early-onset posterior polar cataract skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020378 LEXMATCH -MONDO:0020378 early-onset posterior polar cataract skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98993 LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98995 LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1898 LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020379 LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020379 LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98995 LEXMATCH -MONDO:0020380 autosomal dominant cerebellar ataxia skos:closeMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99 LEXMATCH -MONDO:0020380 autosomal dominant cerebellar ataxia skos:closeMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4346 LEXMATCH -MONDO:0020380 autosomal dominant cerebellar ataxia skos:closeMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020380 LEXMATCH -MONDO:0020380 autosomal dominant cerebellar ataxia skos:closeMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020380 LEXMATCH -MONDO:0020380 autosomal dominant cerebellar ataxia skos:closeMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99 LEXMATCH -MONDO:0020381 patterned macular dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99001 LEXMATCH -MONDO:0020381 patterned macular dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020381 LEXMATCH -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:closeMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99003 LEXMATCH -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:closeMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19612 LEXMATCH -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:closeMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020382 LEXMATCH -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:closeMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020382 LEXMATCH -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:closeMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99003 LEXMATCH -MONDO:0020383 fundus pulverulentus skos:closeMatch Orphanet:99004 Fundus pulverulentus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99004 LEXMATCH -MONDO:0020383 fundus pulverulentus skos:closeMatch Orphanet:99004 Fundus pulverulentus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19613 LEXMATCH -MONDO:0020383 fundus pulverulentus skos:closeMatch Orphanet:99004 Fundus pulverulentus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020383 LEXMATCH -MONDO:0020383 fundus pulverulentus skos:closeMatch Orphanet:99004 Fundus pulverulentus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020383 LEXMATCH -MONDO:0020383 fundus pulverulentus skos:closeMatch Orphanet:99004 Fundus pulverulentus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99004 LEXMATCH -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99042 LEXMATCH -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19614 LEXMATCH -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020385 LEXMATCH -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020385 LEXMATCH -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99042 LEXMATCH -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:closeMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99043 LEXMATCH -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:closeMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19615 LEXMATCH -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:closeMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020386 LEXMATCH -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:closeMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020386 LEXMATCH -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:closeMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99043 LEXMATCH -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:closeMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99045 LEXMATCH -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:closeMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19616 LEXMATCH -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:closeMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020387 LEXMATCH -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:closeMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020387 LEXMATCH -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:closeMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99045 LEXMATCH -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:closeMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99046 LEXMATCH -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:closeMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19617 LEXMATCH -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:closeMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020388 LEXMATCH -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:closeMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020388 LEXMATCH -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:closeMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99046 LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99048 LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19618 LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020389 LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020389 LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99048 LEXMATCH -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:closeMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99049 LEXMATCH -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:closeMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19619 LEXMATCH -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:closeMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020390 LEXMATCH -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:closeMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020390 LEXMATCH -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:closeMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99049 LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99050 LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4586 LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020391 LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020391 LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99050 LEXMATCH -MONDO:0020393 discrete fibromuscular subaortic stenosis skos:closeMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99052 LEXMATCH -MONDO:0020393 discrete fibromuscular subaortic stenosis skos:closeMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19620 LEXMATCH -MONDO:0020393 discrete fibromuscular subaortic stenosis skos:closeMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020393 LEXMATCH -MONDO:0020393 discrete fibromuscular subaortic stenosis skos:closeMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020393 LEXMATCH -MONDO:0020393 discrete fibromuscular subaortic stenosis skos:closeMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99052 LEXMATCH -MONDO:0020394 tunnel subaortic stenosis skos:closeMatch Orphanet:99053 Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99053 LEXMATCH -MONDO:0020394 tunnel subaortic stenosis skos:closeMatch Orphanet:99053 Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19621 LEXMATCH -MONDO:0020394 tunnel subaortic stenosis skos:closeMatch Orphanet:99053 Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020394 LEXMATCH -MONDO:0020394 tunnel subaortic stenosis skos:closeMatch Orphanet:99053 Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020394 LEXMATCH -MONDO:0020394 tunnel subaortic stenosis skos:closeMatch Orphanet:99053 Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99053 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99054 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19622 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020395 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020395 LEXMATCH -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99054 LEXMATCH -MONDO:0020396 anomaly of the tricuspid valve chordae skos:closeMatch Orphanet:99055 Congenital anomaly of the tricuspid valve chordae semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99055 LEXMATCH -MONDO:0020396 anomaly of the tricuspid valve chordae skos:closeMatch Orphanet:99055 Congenital anomaly of the tricuspid valve chordae semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19623 LEXMATCH -MONDO:0020396 anomaly of the tricuspid valve chordae skos:closeMatch Orphanet:99055 Congenital anomaly of the tricuspid valve chordae semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020396 LEXMATCH -MONDO:0020396 anomaly of the tricuspid valve chordae skos:closeMatch Orphanet:99055 Congenital anomaly of the tricuspid valve chordae semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020396 LEXMATCH -MONDO:0020396 anomaly of the tricuspid valve chordae skos:closeMatch Orphanet:99055 Congenital anomaly of the tricuspid valve chordae semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99055 LEXMATCH -MONDO:0020397 parachute tricuspid valve skos:closeMatch Orphanet:99056 Parachute tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99056 LEXMATCH -MONDO:0020397 parachute tricuspid valve skos:closeMatch Orphanet:99056 Parachute tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19624 LEXMATCH -MONDO:0020397 parachute tricuspid valve skos:closeMatch Orphanet:99056 Parachute tricuspid valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020397 LEXMATCH -MONDO:0020397 parachute tricuspid valve skos:closeMatch Orphanet:99056 Parachute tricuspid valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020397 LEXMATCH -MONDO:0020397 parachute tricuspid valve skos:closeMatch Orphanet:99056 Parachute tricuspid valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99056 LEXMATCH -MONDO:0020398 congenital mitral stenosis skos:closeMatch Orphanet:99057 Congenital mitral stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99057 LEXMATCH -MONDO:0020398 congenital mitral stenosis skos:closeMatch Orphanet:99057 Congenital mitral stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1496 LEXMATCH -MONDO:0020398 congenital mitral stenosis skos:closeMatch Orphanet:99057 Congenital mitral stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020398 LEXMATCH -MONDO:0020398 congenital mitral stenosis skos:closeMatch Orphanet:99057 Congenital mitral stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020398 LEXMATCH -MONDO:0020398 congenital mitral stenosis skos:closeMatch Orphanet:99057 Congenital mitral stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99057 LEXMATCH -MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165203 LEXMATCH -MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99058 LEXMATCH -MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19625 LEXMATCH -MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020399 LEXMATCH -MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020399 LEXMATCH -MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99058 LEXMATCH -MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99059 LEXMATCH -MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19626 LEXMATCH -MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020400 LEXMATCH -MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020400 LEXMATCH -MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99059 LEXMATCH -MONDO:0020401 congenital unguarded mitral orifice skos:closeMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99060 LEXMATCH -MONDO:0020401 congenital unguarded mitral orifice skos:closeMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19627 LEXMATCH -MONDO:0020401 congenital unguarded mitral orifice skos:closeMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020401 LEXMATCH -MONDO:0020401 congenital unguarded mitral orifice skos:closeMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020401 LEXMATCH -MONDO:0020401 congenital unguarded mitral orifice skos:closeMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99060 LEXMATCH -MONDO:0020402 congenital accessory mitral valve tissue skos:closeMatch Orphanet:99061 Accessory mitral valve tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99061 LEXMATCH -MONDO:0020402 congenital accessory mitral valve tissue skos:closeMatch Orphanet:99061 Accessory mitral valve tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19628 LEXMATCH -MONDO:0020402 congenital accessory mitral valve tissue skos:closeMatch Orphanet:99061 Accessory mitral valve tissue semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020402 LEXMATCH -MONDO:0020402 congenital accessory mitral valve tissue skos:closeMatch Orphanet:99061 Accessory mitral valve tissue semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020402 LEXMATCH -MONDO:0020402 congenital accessory mitral valve tissue skos:closeMatch Orphanet:99061 Accessory mitral valve tissue semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99061 LEXMATCH -MONDO:0020403 congenital mitral valve agenesis skos:closeMatch Orphanet:99062 Mitral valve agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99062 LEXMATCH -MONDO:0020403 congenital mitral valve agenesis skos:closeMatch Orphanet:99062 Mitral valve agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19629 LEXMATCH -MONDO:0020403 congenital mitral valve agenesis skos:closeMatch Orphanet:99062 Mitral valve agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020403 LEXMATCH -MONDO:0020403 congenital mitral valve agenesis skos:closeMatch Orphanet:99062 Mitral valve agenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020403 LEXMATCH -MONDO:0020403 congenital mitral valve agenesis skos:closeMatch Orphanet:99062 Mitral valve agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99062 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066802 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868705 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99063 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19630 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020404 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020404 LEXMATCH -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99063 LEXMATCH -MONDO:0020405 straddling and/or overriding mitral valve skos:closeMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99064 LEXMATCH -MONDO:0020405 straddling and/or overriding mitral valve skos:closeMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19631 LEXMATCH -MONDO:0020405 straddling and/or overriding mitral valve skos:closeMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020405 LEXMATCH -MONDO:0020405 straddling and/or overriding mitral valve skos:closeMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020405 LEXMATCH -MONDO:0020405 straddling and/or overriding mitral valve skos:closeMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99064 LEXMATCH -MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99067 LEXMATCH -MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16893 LEXMATCH -MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020407 LEXMATCH -MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020407 LEXMATCH -MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99067 LEXMATCH -MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99068 LEXMATCH -MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16894 LEXMATCH -MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020408 LEXMATCH -MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020408 LEXMATCH -MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99068 LEXMATCH -MONDO:0020410 aorto-right ventricular tunnel skos:closeMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99070 LEXMATCH -MONDO:0020410 aorto-right ventricular tunnel skos:closeMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19632 LEXMATCH -MONDO:0020410 aorto-right ventricular tunnel skos:closeMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020410 LEXMATCH -MONDO:0020410 aorto-right ventricular tunnel skos:closeMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020410 LEXMATCH -MONDO:0020410 aorto-right ventricular tunnel skos:closeMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99070 LEXMATCH -MONDO:0020411 aorto-left ventricular tunnel skos:closeMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99071 LEXMATCH -MONDO:0020411 aorto-left ventricular tunnel skos:closeMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19633 LEXMATCH -MONDO:0020411 aorto-left ventricular tunnel skos:closeMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020411 LEXMATCH -MONDO:0020411 aorto-left ventricular tunnel skos:closeMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020411 LEXMATCH -MONDO:0020411 aorto-left ventricular tunnel skos:closeMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99071 LEXMATCH -MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:closeMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99072 LEXMATCH -MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:closeMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19634 LEXMATCH -MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:closeMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020412 LEXMATCH -MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:closeMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020412 LEXMATCH -MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:closeMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99072 LEXMATCH -MONDO:0020413 encircling double aortic arch skos:closeMatch Orphanet:99075 Encircling double aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99075 LEXMATCH -MONDO:0020413 encircling double aortic arch skos:closeMatch Orphanet:99075 Encircling double aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19635 LEXMATCH -MONDO:0020413 encircling double aortic arch skos:closeMatch Orphanet:99075 Encircling double aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020413 LEXMATCH -MONDO:0020413 encircling double aortic arch skos:closeMatch Orphanet:99075 Encircling double aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020413 LEXMATCH -MONDO:0020413 encircling double aortic arch skos:closeMatch Orphanet:99075 Encircling double aortic arch semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99075 LEXMATCH -MONDO:0020414 persistent fifth aortic arch skos:closeMatch Orphanet:99076 Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99076 LEXMATCH -MONDO:0020414 persistent fifth aortic arch skos:closeMatch Orphanet:99076 Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19636 LEXMATCH -MONDO:0020414 persistent fifth aortic arch skos:closeMatch Orphanet:99076 Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020414 LEXMATCH -MONDO:0020414 persistent fifth aortic arch skos:closeMatch Orphanet:99076 Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020414 LEXMATCH -MONDO:0020414 persistent fifth aortic arch skos:closeMatch Orphanet:99076 Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99076 LEXMATCH -MONDO:0020415 Kommerell diverticulum skos:closeMatch Orphanet:99077 Kommerell diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99077 LEXMATCH -MONDO:0020415 Kommerell diverticulum skos:closeMatch Orphanet:99077 Kommerell diverticulum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19637 LEXMATCH -MONDO:0020415 Kommerell diverticulum skos:closeMatch Orphanet:99077 Kommerell diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020415 LEXMATCH -MONDO:0020415 Kommerell diverticulum skos:closeMatch Orphanet:99077 Kommerell diverticulum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020415 LEXMATCH -MONDO:0020415 Kommerell diverticulum skos:closeMatch Orphanet:99077 Kommerell diverticulum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99077 LEXMATCH -MONDO:0020416 Neuhauser anomaly skos:closeMatch Orphanet:99078 Neuhauser anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99078 LEXMATCH -MONDO:0020416 Neuhauser anomaly skos:closeMatch Orphanet:99078 Neuhauser anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19638 LEXMATCH -MONDO:0020416 Neuhauser anomaly skos:closeMatch Orphanet:99078 Neuhauser anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020416 LEXMATCH -MONDO:0020416 Neuhauser anomaly skos:closeMatch Orphanet:99078 Neuhauser anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020416 LEXMATCH -MONDO:0020416 Neuhauser anomaly skos:closeMatch Orphanet:99078 Neuhauser anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99078 LEXMATCH -MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067407 LEXMATCH -MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99081 LEXMATCH -MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19640 LEXMATCH -MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020417 LEXMATCH -MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020417 LEXMATCH -MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99081 LEXMATCH -MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267073 LEXMATCH -MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99082 LEXMATCH -MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19641 LEXMATCH -MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020418 LEXMATCH -MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020418 LEXMATCH -MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99082 LEXMATCH -MONDO:0020419 pulmonary artery hypoplasia skos:closeMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99083 LEXMATCH -MONDO:0020419 pulmonary artery hypoplasia skos:closeMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19642 LEXMATCH -MONDO:0020419 pulmonary artery hypoplasia skos:closeMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020419 LEXMATCH -MONDO:0020419 pulmonary artery hypoplasia skos:closeMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020419 LEXMATCH -MONDO:0020419 pulmonary artery hypoplasia skos:closeMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99083 LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99084 LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4589 LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral pulmonary stenosis LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020420 LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020420 LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99084 LEXMATCH -MONDO:0020423 stenosis or atrophy of the coronary ostium skos:closeMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99087 LEXMATCH -MONDO:0020423 stenosis or atrophy of the coronary ostium skos:closeMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19643 LEXMATCH -MONDO:0020423 stenosis or atrophy of the coronary ostium skos:closeMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020423 LEXMATCH -MONDO:0020423 stenosis or atrophy of the coronary ostium skos:closeMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020423 LEXMATCH -MONDO:0020423 stenosis or atrophy of the coronary ostium skos:closeMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99087 LEXMATCH -MONDO:0020425 abnormal number of coronary ostia skos:closeMatch Orphanet:99089 Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99089 LEXMATCH -MONDO:0020425 abnormal number of coronary ostia skos:closeMatch Orphanet:99089 Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19644 LEXMATCH -MONDO:0020425 abnormal number of coronary ostia skos:closeMatch Orphanet:99089 Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020425 LEXMATCH -MONDO:0020425 abnormal number of coronary ostia skos:closeMatch Orphanet:99089 Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020425 LEXMATCH -MONDO:0020425 abnormal number of coronary ostia skos:closeMatch Orphanet:99089 Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99089 LEXMATCH -MONDO:0020426 malposition of the coronary ostium skos:closeMatch Orphanet:99090 Malposition of a coronary ostium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99090 LEXMATCH -MONDO:0020426 malposition of the coronary ostium skos:closeMatch Orphanet:99090 Malposition of a coronary ostium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19645 LEXMATCH -MONDO:0020426 malposition of the coronary ostium skos:closeMatch Orphanet:99090 Malposition of a coronary ostium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020426 LEXMATCH -MONDO:0020426 malposition of the coronary ostium skos:closeMatch Orphanet:99090 Malposition of a coronary ostium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020426 LEXMATCH -MONDO:0020426 malposition of the coronary ostium skos:closeMatch Orphanet:99090 Malposition of a coronary ostium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99090 LEXMATCH -MONDO:0020427 Laubry-Pezzi syndrome skos:closeMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99094 LEXMATCH -MONDO:0020427 Laubry-Pezzi syndrome skos:closeMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19646 LEXMATCH -MONDO:0020427 Laubry-Pezzi syndrome skos:closeMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020427 LEXMATCH -MONDO:0020427 Laubry-Pezzi syndrome skos:closeMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020427 LEXMATCH -MONDO:0020427 Laubry-Pezzi syndrome skos:closeMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99094 LEXMATCH -MONDO:0020428 congenital Gerbode defect skos:closeMatch Orphanet:99095 Congenital Gerbode defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99095 LEXMATCH -MONDO:0020428 congenital Gerbode defect skos:closeMatch Orphanet:99095 Congenital Gerbode defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19647 LEXMATCH -MONDO:0020428 congenital Gerbode defect skos:closeMatch Orphanet:99095 Congenital Gerbode defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020428 LEXMATCH -MONDO:0020428 congenital Gerbode defect skos:closeMatch Orphanet:99095 Congenital Gerbode defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020428 LEXMATCH -MONDO:0020428 congenital Gerbode defect skos:closeMatch Orphanet:99095 Congenital Gerbode defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99095 LEXMATCH -MONDO:0020429 cor triatriatum dexter skos:closeMatch Orphanet:99098 Cor triatriatum dexter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99098 LEXMATCH -MONDO:0020429 cor triatriatum dexter skos:closeMatch Orphanet:99098 Cor triatriatum dexter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12483 LEXMATCH -MONDO:0020429 cor triatriatum dexter skos:closeMatch Orphanet:99098 Cor triatriatum dexter semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020429 LEXMATCH -MONDO:0020429 cor triatriatum dexter skos:closeMatch Orphanet:99098 Cor triatriatum dexter semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020429 LEXMATCH -MONDO:0020429 cor triatriatum dexter skos:closeMatch Orphanet:99098 Cor triatriatum dexter semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99098 LEXMATCH -MONDO:0020430 cor triatriatum sinister skos:closeMatch Orphanet:99099 Cor triatriatum sinister semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99099 LEXMATCH -MONDO:0020430 cor triatriatum sinister skos:closeMatch Orphanet:99099 Cor triatriatum sinister semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12484 LEXMATCH -MONDO:0020430 cor triatriatum sinister skos:closeMatch Orphanet:99099 Cor triatriatum sinister semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020430 LEXMATCH -MONDO:0020430 cor triatriatum sinister skos:closeMatch Orphanet:99099 Cor triatriatum sinister semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020430 LEXMATCH -MONDO:0020430 cor triatriatum sinister skos:closeMatch Orphanet:99099 Cor triatriatum sinister semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99099 LEXMATCH -MONDO:0020431 juxtaposition of the atrial appendages skos:closeMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99100 LEXMATCH -MONDO:0020431 juxtaposition of the atrial appendages skos:closeMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19648 LEXMATCH -MONDO:0020431 juxtaposition of the atrial appendages skos:closeMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020431 LEXMATCH -MONDO:0020431 juxtaposition of the atrial appendages skos:closeMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020431 LEXMATCH -MONDO:0020431 juxtaposition of the atrial appendages skos:closeMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99100 LEXMATCH -MONDO:0020432 ectasia of the right atrial appendage skos:closeMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99101 LEXMATCH -MONDO:0020432 ectasia of the right atrial appendage skos:closeMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19649 LEXMATCH -MONDO:0020432 ectasia of the right atrial appendage skos:closeMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020432 LEXMATCH -MONDO:0020432 ectasia of the right atrial appendage skos:closeMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020432 LEXMATCH -MONDO:0020432 ectasia of the right atrial appendage skos:closeMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99101 LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99102 LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19650 LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectasia of the left atrial appendage LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020433 LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020433 LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99102 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031302 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031303 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99103 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5865 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020434 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020434 LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99103 LEXMATCH -MONDO:0020435 atrial septal defect, coronary sinus type skos:closeMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99104 LEXMATCH -MONDO:0020435 atrial septal defect, coronary sinus type skos:closeMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10697 LEXMATCH -MONDO:0020435 atrial septal defect, coronary sinus type skos:closeMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020435 LEXMATCH -MONDO:0020435 atrial septal defect, coronary sinus type skos:closeMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020435 LEXMATCH -MONDO:0020435 atrial septal defect, coronary sinus type skos:closeMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99104 LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99105 LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10696 LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020436 LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020436 LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99105 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99106 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10695 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020437 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020437 LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99106 LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521533 LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99107 LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19651 LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020438 LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020438 LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99107 LEXMATCH -MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:closeMatch Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99109 LEXMATCH -MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:closeMatch Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19652 LEXMATCH -MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:closeMatch Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020440 LEXMATCH -MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:closeMatch Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020440 LEXMATCH -MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium skos:closeMatch Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99109 LEXMATCH -MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99110 LEXMATCH -MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19653 LEXMATCH -MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020441 LEXMATCH -MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020441 LEXMATCH -MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99110 LEXMATCH -MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:closeMatch Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99111 LEXMATCH -MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:closeMatch Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19654 LEXMATCH -MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:closeMatch Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020442 LEXMATCH -MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:closeMatch Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020442 LEXMATCH -MONDO:0020442 left superior vena cava persisting to left-sided atrium skos:closeMatch Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99111 LEXMATCH -MONDO:0020443 absence of innominate vein skos:closeMatch Orphanet:99112 Absence of innominate vein semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99112 LEXMATCH -MONDO:0020443 absence of innominate vein skos:closeMatch Orphanet:99112 Absence of innominate vein semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19655 LEXMATCH -MONDO:0020443 absence of innominate vein skos:closeMatch Orphanet:99112 Absence of innominate vein semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020443 LEXMATCH -MONDO:0020443 absence of innominate vein skos:closeMatch Orphanet:99112 Absence of innominate vein semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020443 LEXMATCH -MONDO:0020443 absence of innominate vein skos:closeMatch Orphanet:99112 Absence of innominate vein semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99112 LEXMATCH -MONDO:0020444 subaortic course of innominate vein skos:closeMatch Orphanet:99113 Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99113 LEXMATCH -MONDO:0020444 subaortic course of innominate vein skos:closeMatch Orphanet:99113 Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19656 LEXMATCH -MONDO:0020444 subaortic course of innominate vein skos:closeMatch Orphanet:99113 Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020444 LEXMATCH -MONDO:0020444 subaortic course of innominate vein skos:closeMatch Orphanet:99113 Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020444 LEXMATCH -MONDO:0020444 subaortic course of innominate vein skos:closeMatch Orphanet:99113 Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99113 LEXMATCH -MONDO:0020445 agenesis of the superior vena cava skos:closeMatch Orphanet:99114 Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99114 LEXMATCH -MONDO:0020445 agenesis of the superior vena cava skos:closeMatch Orphanet:99114 Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19657 LEXMATCH -MONDO:0020445 agenesis of the superior vena cava skos:closeMatch Orphanet:99114 Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020445 LEXMATCH -MONDO:0020445 agenesis of the superior vena cava skos:closeMatch Orphanet:99114 Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020445 LEXMATCH -MONDO:0020445 agenesis of the superior vena cava skos:closeMatch Orphanet:99114 Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99114 LEXMATCH -MONDO:0020446 coronary sinus stenosis skos:closeMatch Orphanet:99117 Coronary sinus stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99117 LEXMATCH -MONDO:0020446 coronary sinus stenosis skos:closeMatch Orphanet:99117 Coronary sinus stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19658 LEXMATCH -MONDO:0020446 coronary sinus stenosis skos:closeMatch Orphanet:99117 Coronary sinus stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020446 LEXMATCH -MONDO:0020446 coronary sinus stenosis skos:closeMatch Orphanet:99117 Coronary sinus stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020446 LEXMATCH -MONDO:0020446 coronary sinus stenosis skos:closeMatch Orphanet:99117 Coronary sinus stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99117 LEXMATCH -MONDO:0020447 coronary sinus atresia skos:closeMatch Orphanet:99118 Coronary sinus atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99118 LEXMATCH -MONDO:0020447 coronary sinus atresia skos:closeMatch Orphanet:99118 Coronary sinus atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19659 LEXMATCH -MONDO:0020447 coronary sinus atresia skos:closeMatch Orphanet:99118 Coronary sinus atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020447 LEXMATCH -MONDO:0020447 coronary sinus atresia skos:closeMatch Orphanet:99118 Coronary sinus atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020447 LEXMATCH -MONDO:0020447 coronary sinus atresia skos:closeMatch Orphanet:99118 Coronary sinus atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99118 LEXMATCH -MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99119 LEXMATCH -MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19660 LEXMATCH -MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020448 LEXMATCH -MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020448 LEXMATCH -MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:closeMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99119 LEXMATCH -MONDO:0020449 persistent eustachian valve skos:closeMatch Orphanet:99120 Persistent eustachian valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99120 LEXMATCH -MONDO:0020449 persistent eustachian valve skos:closeMatch Orphanet:99120 Persistent eustachian valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19661 LEXMATCH -MONDO:0020449 persistent eustachian valve skos:closeMatch Orphanet:99120 Persistent eustachian valve semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020449 LEXMATCH -MONDO:0020449 persistent eustachian valve skos:closeMatch Orphanet:99120 Persistent eustachian valve semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020449 LEXMATCH -MONDO:0020449 persistent eustachian valve skos:closeMatch Orphanet:99120 Persistent eustachian valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99120 LEXMATCH -MONDO:0020450 azygos continuation of the inferior vena cava skos:closeMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99121 LEXMATCH -MONDO:0020450 azygos continuation of the inferior vena cava skos:closeMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19662 LEXMATCH -MONDO:0020450 azygos continuation of the inferior vena cava skos:closeMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020450 LEXMATCH -MONDO:0020450 azygos continuation of the inferior vena cava skos:closeMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020450 LEXMATCH -MONDO:0020450 azygos continuation of the inferior vena cava skos:closeMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99121 LEXMATCH -MONDO:0020451 congenital stenosis of the inferior vena cava skos:closeMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99122 LEXMATCH -MONDO:0020451 congenital stenosis of the inferior vena cava skos:closeMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19663 LEXMATCH -MONDO:0020451 congenital stenosis of the inferior vena cava skos:closeMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020451 LEXMATCH -MONDO:0020451 congenital stenosis of the inferior vena cava skos:closeMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020451 LEXMATCH -MONDO:0020451 congenital stenosis of the inferior vena cava skos:closeMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99122 LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:closeMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99123 LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:closeMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19664 LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:closeMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020452 LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:closeMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020452 LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:closeMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99123 LEXMATCH -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99124 LEXMATCH -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19665 LEXMATCH -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020453 LEXMATCH -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020453 LEXMATCH -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99124 LEXMATCH -MONDO:0020454 congenital complete agenesis of pericardium skos:closeMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99129 LEXMATCH -MONDO:0020454 congenital complete agenesis of pericardium skos:closeMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19666 LEXMATCH -MONDO:0020454 congenital complete agenesis of pericardium skos:closeMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020454 LEXMATCH -MONDO:0020454 congenital complete agenesis of pericardium skos:closeMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020454 LEXMATCH -MONDO:0020454 congenital complete agenesis of pericardium skos:closeMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99129 LEXMATCH -MONDO:0020455 congenital partial agenesis of pericardium skos:closeMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99130 LEXMATCH -MONDO:0020455 congenital partial agenesis of pericardium skos:closeMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19667 LEXMATCH -MONDO:0020455 congenital partial agenesis of pericardium skos:closeMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020455 LEXMATCH -MONDO:0020455 congenital partial agenesis of pericardium skos:closeMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020455 LEXMATCH -MONDO:0020455 congenital partial agenesis of pericardium skos:closeMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99130 LEXMATCH -MONDO:0020456 pleuro-pericardial cyst skos:closeMatch Orphanet:99131 Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99131 LEXMATCH -MONDO:0020456 pleuro-pericardial cyst skos:closeMatch Orphanet:99131 Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19668 LEXMATCH -MONDO:0020456 pleuro-pericardial cyst skos:closeMatch Orphanet:99131 Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020456 LEXMATCH -MONDO:0020456 pleuro-pericardial cyst skos:closeMatch Orphanet:99131 Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020456 LEXMATCH -MONDO:0020456 pleuro-pericardial cyst skos:closeMatch Orphanet:99131 Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99131 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619199 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99135 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16897 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020457 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020457 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619199 LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99135 LEXMATCH -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:closeMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99138 LEXMATCH -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:closeMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19669 LEXMATCH -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:closeMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020458 LEXMATCH -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:closeMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020458 LEXMATCH -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:closeMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99138 LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272006 LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99139 LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19670 LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020459 LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020459 LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99139 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069495 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272362 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99147 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5573 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020460 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020460 LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99147 LEXMATCH -MONDO:0020461 epiblepharon skos:closeMatch Orphanet:99169 Epiblepharon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99169 LEXMATCH -MONDO:0020461 epiblepharon skos:closeMatch Orphanet:99169 Epiblepharon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19671 LEXMATCH -MONDO:0020461 epiblepharon skos:closeMatch Orphanet:99169 Epiblepharon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020461 LEXMATCH -MONDO:0020461 epiblepharon skos:closeMatch Orphanet:99169 Epiblepharon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020461 LEXMATCH -MONDO:0020461 epiblepharon skos:closeMatch Orphanet:99169 Epiblepharon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99169 LEXMATCH -MONDO:0020462 tarsal kink syndrome skos:closeMatch Orphanet:99170 Tarsal kink syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99170 LEXMATCH -MONDO:0020462 tarsal kink syndrome skos:closeMatch Orphanet:99170 Tarsal kink syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19672 LEXMATCH -MONDO:0020462 tarsal kink syndrome skos:closeMatch Orphanet:99170 Tarsal kink syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020462 LEXMATCH -MONDO:0020462 tarsal kink syndrome skos:closeMatch Orphanet:99170 Tarsal kink syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020462 LEXMATCH -MONDO:0020462 tarsal kink syndrome skos:closeMatch Orphanet:99170 Tarsal kink syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99170 LEXMATCH -MONDO:0020463 isolated congenital ectropion skos:closeMatch Orphanet:99171 Isolated congenital ectropion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99171 LEXMATCH -MONDO:0020463 isolated congenital ectropion skos:closeMatch Orphanet:99171 Isolated congenital ectropion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19673 LEXMATCH -MONDO:0020463 isolated congenital ectropion skos:closeMatch Orphanet:99171 Isolated congenital ectropion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020463 LEXMATCH -MONDO:0020463 isolated congenital ectropion skos:closeMatch Orphanet:99171 Isolated congenital ectropion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020463 LEXMATCH -MONDO:0020463 isolated congenital ectropion skos:closeMatch Orphanet:99171 Isolated congenital ectropion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99171 LEXMATCH -MONDO:0020464 euryblepharon skos:closeMatch Orphanet:99172 Euryblepharon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99172 LEXMATCH -MONDO:0020464 euryblepharon skos:closeMatch Orphanet:99172 Euryblepharon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19674 LEXMATCH -MONDO:0020464 euryblepharon skos:closeMatch Orphanet:99172 Euryblepharon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020464 LEXMATCH -MONDO:0020464 euryblepharon skos:closeMatch Orphanet:99172 Euryblepharon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020464 LEXMATCH -MONDO:0020464 euryblepharon skos:closeMatch Orphanet:99172 Euryblepharon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99172 LEXMATCH -MONDO:0020465 congenital eyelid retraction skos:closeMatch Orphanet:99176 Congenital eyelid retraction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99176 LEXMATCH -MONDO:0020465 congenital eyelid retraction skos:closeMatch Orphanet:99176 Congenital eyelid retraction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19675 LEXMATCH -MONDO:0020465 congenital eyelid retraction skos:closeMatch Orphanet:99176 Congenital eyelid retraction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020465 LEXMATCH -MONDO:0020465 congenital eyelid retraction skos:closeMatch Orphanet:99176 Congenital eyelid retraction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020465 LEXMATCH -MONDO:0020465 congenital eyelid retraction skos:closeMatch Orphanet:99176 Congenital eyelid retraction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99176 LEXMATCH -MONDO:0020466 monosomy X skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99226 LEXMATCH -MONDO:0020466 monosomy X skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19676 LEXMATCH -MONDO:0020466 monosomy X skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020466 LEXMATCH -MONDO:0020466 monosomy X skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020466 LEXMATCH -MONDO:0020466 monosomy X skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99226 LEXMATCH -MONDO:0020467 mosaic monosomy X skos:closeMatch Orphanet:99228 Mosaic monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99228 LEXMATCH -MONDO:0020467 mosaic monosomy X skos:closeMatch Orphanet:99228 Mosaic monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19677 LEXMATCH -MONDO:0020467 mosaic monosomy X skos:closeMatch Orphanet:99228 Mosaic monosomy X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020467 LEXMATCH -MONDO:0020467 mosaic monosomy X skos:closeMatch Orphanet:99228 Mosaic monosomy X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020467 LEXMATCH -MONDO:0020467 mosaic monosomy X skos:closeMatch Orphanet:99228 Mosaic monosomy X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99228 LEXMATCH -MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99324 LEXMATCH -MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19678 LEXMATCH -MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020468 LEXMATCH -MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020468 LEXMATCH -MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:closeMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99324 LEXMATCH -MONDO:0020469 48,XYYY syndrome skos:closeMatch Orphanet:99329 48,XYYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99329 LEXMATCH -MONDO:0020469 48,XYYY syndrome skos:closeMatch Orphanet:99329 48,XYYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11985 LEXMATCH -MONDO:0020469 48,XYYY syndrome skos:closeMatch Orphanet:99329 48,XYYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020469 LEXMATCH -MONDO:0020469 48,XYYY syndrome skos:closeMatch Orphanet:99329 48,XYYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020469 LEXMATCH -MONDO:0020469 48,XYYY syndrome skos:closeMatch Orphanet:99329 48,XYYY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99329 LEXMATCH -MONDO:0020470 49,XYYYY syndrome skos:closeMatch Orphanet:99330 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99330 LEXMATCH -MONDO:0020470 49,XYYYY syndrome skos:closeMatch Orphanet:99330 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19679 LEXMATCH -MONDO:0020470 49,XYYYY syndrome skos:closeMatch Orphanet:99330 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020470 LEXMATCH -MONDO:0020470 49,XYYYY syndrome skos:closeMatch Orphanet:99330 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020470 LEXMATCH -MONDO:0020470 49,XYYYY syndrome skos:closeMatch Orphanet:99330 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99330 LEXMATCH -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:closeMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99413 LEXMATCH -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:closeMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19681 LEXMATCH -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:closeMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020472 LEXMATCH -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:closeMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020472 LEXMATCH -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:closeMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99413 LEXMATCH -MONDO:0020474 cheirospondyloenchondromatosis skos:closeMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99647 LEXMATCH -MONDO:0020474 cheirospondyloenchondromatosis skos:closeMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19682 LEXMATCH -MONDO:0020474 cheirospondyloenchondromatosis skos:closeMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020474 LEXMATCH -MONDO:0020474 cheirospondyloenchondromatosis skos:closeMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020474 LEXMATCH -MONDO:0020474 cheirospondyloenchondromatosis skos:closeMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99647 LEXMATCH -MONDO:0020475 dermotrichic syndrome skos:closeMatch Orphanet:99688 Dermotrichic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99688 LEXMATCH -MONDO:0020475 dermotrichic syndrome skos:closeMatch Orphanet:99688 Dermotrichic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19683 LEXMATCH -MONDO:0020475 dermotrichic syndrome skos:closeMatch Orphanet:99688 Dermotrichic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020475 LEXMATCH -MONDO:0020475 dermotrichic syndrome skos:closeMatch Orphanet:99688 Dermotrichic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020475 LEXMATCH -MONDO:0020475 dermotrichic syndrome skos:closeMatch Orphanet:99688 Dermotrichic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99688 LEXMATCH -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99701 LEXMATCH -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19684 LEXMATCH -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020476 LEXMATCH -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020476 LEXMATCH -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99701 LEXMATCH -MONDO:0020478 Leber plus disease skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99718 LEXMATCH -MONDO:0020478 Leber plus disease skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8476 LEXMATCH -MONDO:0020478 Leber plus disease skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020478 LEXMATCH -MONDO:0020478 Leber plus disease skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020478 LEXMATCH -MONDO:0020478 Leber plus disease skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99718 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018265 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99725 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6506 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020479 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020479 LEXMATCH -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99725 LEXMATCH -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99732 LEXMATCH -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3705 LEXMATCH -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020480 LEXMATCH -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020480 LEXMATCH -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99732 LEXMATCH -MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 LEXMATCH -MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99734 LEXMATCH -MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16904 LEXMATCH -MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020481 LEXMATCH -MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020481 LEXMATCH -MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99734 LEXMATCH -MONDO:0020482 myotonia permanens skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99735 LEXMATCH -MONDO:0020482 myotonia permanens skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16905 LEXMATCH -MONDO:0020482 myotonia permanens skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020482 LEXMATCH -MONDO:0020482 myotonia permanens skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020482 LEXMATCH -MONDO:0020482 myotonia permanens skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99735 LEXMATCH -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99736 LEXMATCH -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16906 LEXMATCH -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020483 LEXMATCH -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020483 LEXMATCH -MONDO:0020483 acetazolamide-responsive myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99736 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619542 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99741 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8433 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020485 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020485 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619542 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99741 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054161 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343528 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99748 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13588 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020487 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020487 LEXMATCH -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99748 LEXMATCH -MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99750 LEXMATCH -MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4507 LEXMATCH -MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020488 LEXMATCH -MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020488 LEXMATCH -MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99750 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99776 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:43 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome 9 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy 9 mosaicism LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020490 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020490 LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99776 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99796 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1904 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020491 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020491 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99796 LEXMATCH -MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431391 LEXMATCH -MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99802 LEXMATCH -MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2637 LEXMATCH -MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020492 LEXMATCH -MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020492 LEXMATCH -MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99802 LEXMATCH -MONDO:0020493 Haddad syndrome skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99803 LEXMATCH -MONDO:0020493 Haddad syndrome skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16909 LEXMATCH -MONDO:0020493 Haddad syndrome skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020493 LEXMATCH -MONDO:0020493 Haddad syndrome skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020493 LEXMATCH -MONDO:0020493 Haddad syndrome skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99803 LEXMATCH -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750325 LEXMATCH -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99806 LEXMATCH -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16910 LEXMATCH -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020494 LEXMATCH -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020494 LEXMATCH -MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99806 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617507 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99807 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16911 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020495 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020495 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617507 LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99807 LEXMATCH -MONDO:0020496 familial porencephaly skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99810 LEXMATCH -MONDO:0020496 familial porencephaly skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2258 LEXMATCH -MONDO:0020496 familial porencephaly skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020496 LEXMATCH -MONDO:0020496 familial porencephaly skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020496 LEXMATCH -MONDO:0020496 familial porencephaly skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99810 LEXMATCH -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99818 LEXMATCH -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16912 LEXMATCH -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020497 LEXMATCH -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020497 LEXMATCH -MONDO:0020497 Turcot syndrome with polyposis skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99818 LEXMATCH -MONDO:0020499 Nipah virus disease skos:closeMatch Orphanet:99825 Nipah virus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99825 LEXMATCH -MONDO:0020499 Nipah virus disease skos:closeMatch Orphanet:99825 Nipah virus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19689 LEXMATCH -MONDO:0020499 Nipah virus disease skos:closeMatch Orphanet:99825 Nipah virus disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020499 LEXMATCH -MONDO:0020499 Nipah virus disease skos:closeMatch Orphanet:99825 Nipah virus disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020499 LEXMATCH -MONDO:0020499 Nipah virus disease skos:closeMatch Orphanet:99825 Nipah virus disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99825 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026822 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024788 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99826 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9444 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020500 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020500 LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99826 LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019099 LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99827 LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19690 LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020501 LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020501 LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99827 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048240 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043395 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99829 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7914 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020502 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020502 LEXMATCH -MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99829 LEXMATCH -MONDO:0020504 hereditary recurrent myoglobinuria skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99845 LEXMATCH -MONDO:0020504 hereditary recurrent myoglobinuria skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16916 LEXMATCH -MONDO:0020504 hereditary recurrent myoglobinuria skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020504 LEXMATCH -MONDO:0020504 hereditary recurrent myoglobinuria skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020504 LEXMATCH -MONDO:0020504 hereditary recurrent myoglobinuria skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99845 LEXMATCH -MONDO:0020505 ravine syndrome skos:closeMatch Orphanet:99852 Ravine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99852 LEXMATCH -MONDO:0020505 ravine syndrome skos:closeMatch Orphanet:99852 Ravine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3231 LEXMATCH -MONDO:0020505 ravine syndrome skos:closeMatch Orphanet:99852 Ravine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020505 LEXMATCH -MONDO:0020505 ravine syndrome skos:closeMatch Orphanet:99852 Ravine syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020505 LEXMATCH -MONDO:0020505 ravine syndrome skos:closeMatch Orphanet:99852 Ravine syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99852 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99854 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16919 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cree leukoencephalopathy LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020507 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020507 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603896 LEXMATCH -MONDO:0020507 leukoencephalopathy with vanishing white matter 1 skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99854 LEXMATCH -MONDO:0020508 primary syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99856 LEXMATCH -MONDO:0020508 primary syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19691 LEXMATCH -MONDO:0020508 primary syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020508 LEXMATCH -MONDO:0020508 primary syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020508 LEXMATCH -MONDO:0020508 primary syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99856 LEXMATCH -MONDO:0020509 secondary syringomyelia skos:closeMatch Orphanet:99857 Secondary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99857 LEXMATCH -MONDO:0020509 secondary syringomyelia skos:closeMatch Orphanet:99857 Secondary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19692 LEXMATCH -MONDO:0020509 secondary syringomyelia skos:closeMatch Orphanet:99857 Secondary syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020509 LEXMATCH -MONDO:0020509 secondary syringomyelia skos:closeMatch Orphanet:99857 Secondary syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020509 LEXMATCH -MONDO:0020509 secondary syringomyelia skos:closeMatch Orphanet:99857 Secondary syringomyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99857 LEXMATCH -MONDO:0020510 idiopathic syringomyelia skos:closeMatch Orphanet:99858 Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99858 LEXMATCH -MONDO:0020510 idiopathic syringomyelia skos:closeMatch Orphanet:99858 Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19693 LEXMATCH -MONDO:0020510 idiopathic syringomyelia skos:closeMatch Orphanet:99858 Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020510 LEXMATCH -MONDO:0020510 idiopathic syringomyelia skos:closeMatch Orphanet:99858 Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020510 LEXMATCH -MONDO:0020510 idiopathic syringomyelia skos:closeMatch Orphanet:99858 Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99858 LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99860 LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16920 LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020511 LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020511 LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99860 LEXMATCH -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99861 LEXMATCH -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19694 LEXMATCH -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020512 LEXMATCH -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020512 LEXMATCH -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99861 LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334517 LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99865 LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16921 LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020513 LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020513 LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99865 LEXMATCH -MONDO:0020516 thymic neuroendocrine carcinoma skos:closeMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99869 LEXMATCH -MONDO:0020516 thymic neuroendocrine carcinoma skos:closeMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19696 LEXMATCH -MONDO:0020516 thymic neuroendocrine carcinoma skos:closeMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020516 LEXMATCH -MONDO:0020516 thymic neuroendocrine carcinoma skos:closeMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020516 LEXMATCH -MONDO:0020516 thymic neuroendocrine carcinoma skos:closeMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99869 LEXMATCH -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:closeMatch Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99887 LEXMATCH -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:closeMatch Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19697 LEXMATCH -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:closeMatch Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020526 LEXMATCH -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:closeMatch Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020526 LEXMATCH -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:closeMatch Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99887 LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:closeMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99889 LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:closeMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19698 LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:closeMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020527 LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:closeMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020527 LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:closeMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99889 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342442 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99892 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19699 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020528 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020528 LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99892 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930924 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99898 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9185 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020530 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020530 LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99898 LEXMATCH -MONDO:0020532 spirillary rat-bite fever skos:closeMatch Orphanet:99903 Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99903 LEXMATCH -MONDO:0020532 spirillary rat-bite fever skos:closeMatch Orphanet:99903 Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19701 LEXMATCH -MONDO:0020532 spirillary rat-bite fever skos:closeMatch Orphanet:99903 Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020532 LEXMATCH -MONDO:0020532 spirillary rat-bite fever skos:closeMatch Orphanet:99903 Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020532 LEXMATCH -MONDO:0020532 spirillary rat-bite fever skos:closeMatch Orphanet:99903 Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99903 LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99905 LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19702 LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020533 LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020533 LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99905 LEXMATCH -MONDO:0020535 house allergic alveolitis skos:closeMatch Orphanet:99907 House allergic alveolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99907 LEXMATCH -MONDO:0020535 house allergic alveolitis skos:closeMatch Orphanet:99907 House allergic alveolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19703 LEXMATCH -MONDO:0020535 house allergic alveolitis skos:closeMatch Orphanet:99907 House allergic alveolitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020535 LEXMATCH -MONDO:0020535 house allergic alveolitis skos:closeMatch Orphanet:99907 House allergic alveolitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020535 LEXMATCH -MONDO:0020535 house allergic alveolitis skos:closeMatch Orphanet:99907 House allergic alveolitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99907 LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99912 LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19705 LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant dysgerminomatous germ cell tumor of the ovary LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020538 LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020538 LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99912 LEXMATCH -MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:closeMatch Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19706 LEXMATCH -MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:closeMatch Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020539 LEXMATCH -MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:closeMatch Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020539 LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018413 LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99914 LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9665 LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gynandroblastoma LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020540 LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020540 LEXMATCH -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99914 LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99915 LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19707 LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maligant granulosa cell tumor of the ovary LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020541 LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020541 LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99915 LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99916 LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5495 LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant sertoli-leydig cell tumor of the ovary LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020542 LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020542 LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99916 LEXMATCH -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:closeMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99917 LEXMATCH -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:closeMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19708 LEXMATCH -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:closeMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020543 LEXMATCH -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:closeMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020543 LEXMATCH -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:closeMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99917 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044251 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343532 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99918 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19709 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020544 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020544 LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99918 LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044250 LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99919 LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19710 LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020545 LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020545 LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99919 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066260 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856825 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99920 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6544 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020546 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020546 LEXMATCH -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99920 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066261 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0867389 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99921 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10964 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020547 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020547 LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99921 LEXMATCH -MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067776 LEXMATCH -MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99922 LEXMATCH -MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8759 LEXMATCH -MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020548 LEXMATCH -MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020548 LEXMATCH -MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99922 LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008493 LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99925 LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19711 LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020549 LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020549 LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99925 LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349557 LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99926 LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19712 LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020550 LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020550 LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99926 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206666 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99928 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7403 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020552 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020552 LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99928 LEXMATCH -MONDO:0020553 secondary pulmonary hemosiderosis skos:closeMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99930 LEXMATCH -MONDO:0020553 secondary pulmonary hemosiderosis skos:closeMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19713 LEXMATCH -MONDO:0020553 secondary pulmonary hemosiderosis skos:closeMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020553 LEXMATCH -MONDO:0020553 secondary pulmonary hemosiderosis skos:closeMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020553 LEXMATCH -MONDO:0020553 secondary pulmonary hemosiderosis skos:closeMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99930 LEXMATCH -MONDO:0020554 Heiner syndrome skos:closeMatch Orphanet:99932 Heiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99932 LEXMATCH -MONDO:0020554 Heiner syndrome skos:closeMatch Orphanet:99932 Heiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19714 LEXMATCH -MONDO:0020554 Heiner syndrome skos:closeMatch Orphanet:99932 Heiner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020554 LEXMATCH -MONDO:0020554 Heiner syndrome skos:closeMatch Orphanet:99932 Heiner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020554 LEXMATCH -MONDO:0020554 Heiner syndrome skos:closeMatch Orphanet:99932 Heiner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99932 LEXMATCH -MONDO:0020555 pleuropulmonary blastoma type 1 skos:closeMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99933 LEXMATCH -MONDO:0020555 pleuropulmonary blastoma type 1 skos:closeMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19715 LEXMATCH -MONDO:0020555 pleuropulmonary blastoma type 1 skos:closeMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020555 LEXMATCH -MONDO:0020555 pleuropulmonary blastoma type 1 skos:closeMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020555 LEXMATCH -MONDO:0020555 pleuropulmonary blastoma type 1 skos:closeMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99933 LEXMATCH -MONDO:0020556 pleuropulmonary blastoma type 2 skos:closeMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99934 LEXMATCH -MONDO:0020556 pleuropulmonary blastoma type 2 skos:closeMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19716 LEXMATCH -MONDO:0020556 pleuropulmonary blastoma type 2 skos:closeMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020556 LEXMATCH -MONDO:0020556 pleuropulmonary blastoma type 2 skos:closeMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020556 LEXMATCH -MONDO:0020556 pleuropulmonary blastoma type 2 skos:closeMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99934 LEXMATCH -MONDO:0020557 pleuropulmonary blastoma type 3 skos:closeMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99935 LEXMATCH -MONDO:0020557 pleuropulmonary blastoma type 3 skos:closeMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19717 LEXMATCH -MONDO:0020557 pleuropulmonary blastoma type 3 skos:closeMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020557 LEXMATCH -MONDO:0020557 pleuropulmonary blastoma type 3 skos:closeMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020557 LEXMATCH -MONDO:0020557 pleuropulmonary blastoma type 3 skos:closeMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99935 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99944 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9199 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020558 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020558 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99944 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069682 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2721741 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99965 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19718 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020559 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020559 LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99965 LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdoid tumor predisposition syndrome LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99966 LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16926 LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020560 LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020560 LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99966 LEXMATCH -MONDO:0020561 myxoid/round cell liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99967 LEXMATCH -MONDO:0020561 myxoid/round cell liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7157 LEXMATCH -MONDO:0020561 myxoid/round cell liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020561 LEXMATCH -MONDO:0020561 myxoid/round cell liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020561 LEXMATCH -MONDO:0020561 myxoid/round cell liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99967 LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205825 LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99969 LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19719 LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020562 LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020562 LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99969 LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205824 LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99970 LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19720 LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020563 LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020563 LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:closeMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99970 LEXMATCH -MONDO:0020567 apnea of prematurity skos:closeMatch Orphanet:99981 Apnea of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99981 LEXMATCH -MONDO:0020567 apnea of prematurity skos:closeMatch Orphanet:99981 Apnea of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19722 LEXMATCH -MONDO:0020567 apnea of prematurity skos:closeMatch Orphanet:99981 Apnea of prematurity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020567 LEXMATCH -MONDO:0020567 apnea of prematurity skos:closeMatch Orphanet:99981 Apnea of prematurity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020567 LEXMATCH -MONDO:0020567 apnea of prematurity skos:closeMatch Orphanet:99981 Apnea of prematurity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99981 LEXMATCH -MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027031 LEXMATCH -MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99983 LEXMATCH -MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19723 LEXMATCH -MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020568 LEXMATCH -MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020568 LEXMATCH -MONDO:0020568 cutaneous myiasis skos:closeMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99983 LEXMATCH -MONDO:0020569 intermediate DEND syndrome skos:closeMatch Orphanet:99989 Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99989 LEXMATCH -MONDO:0020569 intermediate DEND syndrome skos:closeMatch Orphanet:99989 Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19724 LEXMATCH -MONDO:0020569 intermediate DEND syndrome skos:closeMatch Orphanet:99989 Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020569 LEXMATCH -MONDO:0020569 intermediate DEND syndrome skos:closeMatch Orphanet:99989 Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020569 LEXMATCH -MONDO:0020569 intermediate DEND syndrome skos:closeMatch Orphanet:99989 Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99989 LEXMATCH -MONDO:0020571 relapsing epidemic typhus skos:closeMatch Orphanet:99991 Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99991 LEXMATCH -MONDO:0020571 relapsing epidemic typhus skos:closeMatch Orphanet:99991 Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19726 LEXMATCH -MONDO:0020571 relapsing epidemic typhus skos:closeMatch Orphanet:99991 Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020571 LEXMATCH -MONDO:0020571 relapsing epidemic typhus skos:closeMatch Orphanet:99991 Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020571 LEXMATCH -MONDO:0020571 relapsing epidemic typhus skos:closeMatch Orphanet:99991 Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99991 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064335 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007462 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99994 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19727 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020572 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020572 LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99994 LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312870 LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:312870 LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:312870 LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:312870 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302960 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35173 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6189 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020603 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020603 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302960 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35173 LEXMATCH -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177200 LEXMATCH -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism LEXMATCH -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome LEXMATCH -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:177200 LEXMATCH -MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618097 LEXMATCH -MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18507 LEXMATCH -MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618097 LEXMATCH -MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617829 LEXMATCH -MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16258 LEXMATCH -MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617829 LEXMATCH -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 LEXMATCH -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16285 LEXMATCH -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618012 LEXMATCH -MONDO:0020640 autoimmune encephalitis skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:11979 LEXMATCH -MONDO:0020640 autoimmune encephalitis skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020640 LEXMATCH -MONDO:0020640 autoimmune encephalitis skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020640 LEXMATCH -MONDO:0020659 upper tract urothelial carcinoma skos:closeMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:598216 LEXMATCH -MONDO:0020659 upper tract urothelial carcinoma skos:closeMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9376 LEXMATCH -MONDO:0020659 upper tract urothelial carcinoma skos:closeMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020659 LEXMATCH -MONDO:0020659 upper tract urothelial carcinoma skos:closeMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020659 LEXMATCH -MONDO:0020659 upper tract urothelial carcinoma skos:closeMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:598216 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596008 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22389 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020667 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020667 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596008 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 LEXMATCH -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207410 LEXMATCH -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 LEXMATCH -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome LEXMATCH -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601776 LEXMATCH -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 LEXMATCH -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130070 LEXMATCH -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 LEXMATCH -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:130080 LEXMATCH -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type LEXMATCH -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130080 LEXMATCH -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:130080 LEXMATCH -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 LEXMATCH -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10726 LEXMATCH -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:277300 LEXMATCH -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:264580 LEXMATCH -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17261 LEXMATCH -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020693 LEXMATCH -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020693 LEXMATCH -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:264580 LEXMATCH -MONDO:0020704 inherited rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 LEXMATCH -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 LEXMATCH -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182940 LEXMATCH -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 LEXMATCH -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182940 LEXMATCH -MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400044 LEXMATCH -MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:400044 LEXMATCH -MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:400044 LEXMATCH -MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:400044 LEXMATCH -MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265450 LEXMATCH -MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:265450 LEXMATCH -MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146500 LEXMATCH -MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146500 LEXMATCH -MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146500 LEXMATCH -MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146500 LEXMATCH -MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274400 LEXMATCH -MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18188 LEXMATCH -MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:274400 LEXMATCH -MONDO:0020717 autosomal dominant wooly hair skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194300 LEXMATCH -MONDO:0020717 autosomal dominant wooly hair skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:194300 LEXMATCH -MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615237 LEXMATCH -MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18585 LEXMATCH -MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615237 LEXMATCH -MONDO:0020720 X-linked hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3540852 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300751 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:75563 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9456 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020721 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020721 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300751 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:75563 LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221018 LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268689 LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18636 LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:264700 LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:264700 LEXMATCH -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:264700 LEXMATCH -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116860 LEXMATCH -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:116860 LEXMATCH -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:116860 LEXMATCH -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:116860 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174000 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:88949 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7002 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muc1-related autosomal dominant tubulointerstitial kidney disease LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020726 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020726 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:174000 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:88949 LEXMATCH -MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616045 LEXMATCH -MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616045 LEXMATCH -MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616045 LEXMATCH -MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616045 LEXMATCH -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220150 LEXMATCH -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220150 LEXMATCH -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 LEXMATCH -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601495 LEXMATCH -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 LEXMATCH -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601495 LEXMATCH -MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 LEXMATCH -MONDO:0020733 proximal symphalangism 1A skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 LEXMATCH -MONDO:0020733 proximal symphalangism 1A skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:185800 LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219080 LEXMATCH -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219080 LEXMATCH -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 LEXMATCH -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15122 LEXMATCH -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi LEXMATCH -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair syndrome LEXMATCH -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191480 LEXMATCH -MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616732 LEXMATCH -MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18200 LEXMATCH -MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616732 LEXMATCH -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 LEXMATCH -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:156610 LEXMATCH -MONDO:0020739 hypercalcemia, infantile, 1 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143880 LEXMATCH -MONDO:0020739 hypercalcemia, infantile, 1 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18434 LEXMATCH -MONDO:0020739 hypercalcemia, infantile, 1 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:143880 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300291 LEXMATCH -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:300291 LEXMATCH -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 LEXMATCH -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy LEXMATCH -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:266100 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530995 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17972 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020743 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020743 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530995 LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 LEXMATCH -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618469 LEXMATCH -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618469 LEXMATCH -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618469 LEXMATCH -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618469 LEXMATCH -MONDO:0020747 sitosterolemia 1 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210250 LEXMATCH -MONDO:0020747 sitosterolemia 1 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:210250 LEXMATCH -MONDO:0020747 sitosterolemia 1 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210250 LEXMATCH -MONDO:0020747 sitosterolemia 1 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:210250 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16372 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618666 LEXMATCH -MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618666 LEXMATCH -MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221770 LEXMATCH -MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221770 LEXMATCH -MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618193 LEXMATCH -MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618193 LEXMATCH -MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618193 LEXMATCH -MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618193 LEXMATCH -MONDO:0020754 visceral myopathy 1 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155310 LEXMATCH -MONDO:0020754 visceral myopathy 1 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis LEXMATCH -MONDO:0020754 visceral myopathy 1 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:155310 LEXMATCH -MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141500 LEXMATCH -MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2638 LEXMATCH -MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:141500 LEXMATCH -MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:141500 LEXMATCH -MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:141500 LEXMATCH -MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600131 LEXMATCH -MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18057 LEXMATCH -MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600131 LEXMATCH -MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618184 LEXMATCH -MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618184 LEXMATCH -MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618186 LEXMATCH -MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18567 LEXMATCH -MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618186 LEXMATCH -MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618186 LEXMATCH -MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618186 LEXMATCH -MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607631 LEXMATCH -MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607631 LEXMATCH -MONDO:0020774 Menke-Hennekam syndrome skos:closeMatch Orphanet:592574 Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592574 LEXMATCH -MONDO:0020774 Menke-Hennekam syndrome skos:closeMatch Orphanet:592574 Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22371 LEXMATCH -MONDO:0020774 Menke-Hennekam syndrome skos:closeMatch Orphanet:592574 Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020774 LEXMATCH -MONDO:0020774 Menke-Hennekam syndrome skos:closeMatch Orphanet:592574 Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020774 LEXMATCH -MONDO:0020774 Menke-Hennekam syndrome skos:closeMatch Orphanet:592574 Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592574 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617186 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:555407 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17991 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020781 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020781 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617186 LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:555407 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842180 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608354 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608354 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90307 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9787 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020783 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020783 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608354 LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90307 LEXMATCH -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618196 LEXMATCH -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16307 LEXMATCH -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618196 LEXMATCH -MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616418 LEXMATCH -MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616418 LEXMATCH -MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251290 LEXMATCH -MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:251290 LEXMATCH -MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251290 LEXMATCH -MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:251290 LEXMATCH -MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607313 LEXMATCH -MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607313 LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:122100 LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122100 LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:122100 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164310 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15097 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:164310 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:164310 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:164310 LEXMATCH -MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618908 LEXMATCH -MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18465 LEXMATCH -MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618908 LEXMATCH -MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618908 LEXMATCH -MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618908 LEXMATCH -MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 LEXMATCH -MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:180860 LEXMATCH -MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180860 LEXMATCH -MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:180860 LEXMATCH -MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618883 LEXMATCH -MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18257 LEXMATCH -MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618883 LEXMATCH -MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618883 LEXMATCH -MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618883 LEXMATCH -MONDO:0020820 distal arthrogryposis type 2B1 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601680 LEXMATCH -MONDO:0020820 distal arthrogryposis type 2B1 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9909 LEXMATCH -MONDO:0020820 distal arthrogryposis type 2B1 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601680 LEXMATCH -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521438 LEXMATCH -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17961 LEXMATCH -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0020831 LEXMATCH -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0020831 LEXMATCH -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521438 LEXMATCH -MONDO:0020835 methemoglobinemia, alpha type skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617973 LEXMATCH -MONDO:0020835 methemoglobinemia, alpha type skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16277 LEXMATCH -MONDO:0020835 methemoglobinemia, alpha type skos:closeMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617973 LEXMATCH -MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618056 LEXMATCH -MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618056 LEXMATCH -MONDO:0020847 intellectual disability, autosomal dominant 58 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618106 LEXMATCH -MONDO:0020847 intellectual disability, autosomal dominant 58 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16476 LEXMATCH -MONDO:0020847 intellectual disability, autosomal dominant 58 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618106 LEXMATCH -MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618109 LEXMATCH -MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22578 LEXMATCH -MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618109 LEXMATCH -MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618109 LEXMATCH -MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618109 LEXMATCH -MONDO:0020851 spermatogenic failure 30 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618110 LEXMATCH -MONDO:0020851 spermatogenic failure 30 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16291 LEXMATCH -MONDO:0020851 spermatogenic failure 30 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618110 LEXMATCH -MONDO:0020852 spermatogenic failure 31 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618112 LEXMATCH -MONDO:0020852 spermatogenic failure 31 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618112 LEXMATCH -MONDO:0020854 Liddle syndrome 2 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618114 LEXMATCH -MONDO:0020854 Liddle syndrome 2 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618114 LEXMATCH -MONDO:0020854 Liddle syndrome 2 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618114 LEXMATCH -MONDO:0020854 Liddle syndrome 2 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618114 LEXMATCH -MONDO:0020855 spermatogenic failure 32 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618115 LEXMATCH -MONDO:0020855 spermatogenic failure 32 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16292 LEXMATCH -MONDO:0020855 spermatogenic failure 32 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618115 LEXMATCH -MONDO:0020857 ovarian dysgenesis 7 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618117 LEXMATCH -MONDO:0020857 ovarian dysgenesis 7 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18043 LEXMATCH -MONDO:0020857 ovarian dysgenesis 7 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618117 LEXMATCH -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618120 LEXMATCH -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18670 LEXMATCH -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618120 LEXMATCH -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235200 LEXMATCH -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:465508 LEXMATCH -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of classic hemochromatosis LEXMATCH -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021001 LEXMATCH -MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:235200 LEXMATCH -MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 LEXMATCH -MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 LEXMATCH -MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039075 LEXMATCH -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 LEXMATCH -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 LEXMATCH -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603596 LEXMATCH -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603596 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:915 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4775 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog syndrome LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021005 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021005 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:915 LEXMATCH -MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118700 LEXMATCH -MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:118700 LEXMATCH -MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118700 LEXMATCH -MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:118700 LEXMATCH -MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608207 LEXMATCH -MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608207 LEXMATCH -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234050 LEXMATCH -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5271 LEXMATCH -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:234050 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501858 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:34516 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12528 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1d LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1d LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021018 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021018 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603511 LEXMATCH -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:34516 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300500 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342684 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:54 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8471 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021019 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021019 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300500 LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:54 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218800 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057034 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79234 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:47 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021020 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021020 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218800 LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:79234 LEXMATCH -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 LEXMATCH -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:249 LEXMATCH -MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:122860 LEXMATCH -MONDO:0021022 hereditary hyperekplexia skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3197 LEXMATCH -MONDO:0021022 hereditary hyperekplexia skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3129 LEXMATCH -MONDO:0021022 hereditary hyperekplexia skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021022 LEXMATCH -MONDO:0021022 hereditary hyperekplexia skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021022 LEXMATCH -MONDO:0021022 hereditary hyperekplexia skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3197 LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99429 LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10597 LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021023 LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021023 LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:closeMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99429 LEXMATCH -MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611162 LEXMATCH -MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:611162 LEXMATCH -MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:611162 LEXMATCH -MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:611162 LEXMATCH -MONDO:0021026 hereditary epidermal appendage anomaly skos:closeMatch Orphanet:183447 Genetic epidermal appendage anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20265 LEXMATCH -MONDO:0021026 hereditary epidermal appendage anomaly skos:closeMatch Orphanet:183447 Genetic epidermal appendage anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021026 LEXMATCH -MONDO:0021026 hereditary epidermal appendage anomaly skos:closeMatch Orphanet:183447 Genetic epidermal appendage anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021026 LEXMATCH -MONDO:0021029 hereditary sebaceous gland anomaly skos:closeMatch Orphanet:183460 Genetic sebaceous gland anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20268 LEXMATCH -MONDO:0021029 hereditary sebaceous gland anomaly skos:closeMatch Orphanet:183460 Genetic sebaceous gland anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021029 LEXMATCH -MONDO:0021029 hereditary sebaceous gland anomaly skos:closeMatch Orphanet:183460 Genetic sebaceous gland anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021029 LEXMATCH -MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203650 LEXMATCH -MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:203650 LEXMATCH -MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:203650 LEXMATCH -MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:203650 LEXMATCH -MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017638 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:182067 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6513 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021042 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021042 LEXMATCH -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:182067 LEXMATCH -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006007 LEXMATCH -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:223727 LEXMATCH -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20547 LEXMATCH -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021054 LEXMATCH -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021054 LEXMATCH -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:223727 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056981 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032580 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:733 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6408 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021055 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021055 LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:733 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:247806 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021056 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79665 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021056 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99818 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021056 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:175100 LEXMATCH -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:175100 LEXMATCH -MONDO:0021060 RASopathy skos:closeMatch Orphanet:536391 RASopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22213 LEXMATCH -MONDO:0021060 RASopathy skos:closeMatch Orphanet:536391 RASopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021060 LEXMATCH -MONDO:0021060 RASopathy skos:closeMatch Orphanet:536391 RASopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021060 LEXMATCH -MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217253 LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20513 LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021081 LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021081 LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:217253 LEXMATCH -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 LEXMATCH -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135700 LEXMATCH -MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218330 LEXMATCH -MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:218330 LEXMATCH -MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218330 LEXMATCH -MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:218330 LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:closeMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498228 LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:closeMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9404 LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:closeMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021102 LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:closeMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021102 LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:closeMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498228 LEXMATCH -MONDO:0021106 laminopathy skos:closeMatch Orphanet:98301 Laminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19444 LEXMATCH -MONDO:0021106 laminopathy skos:closeMatch Orphanet:98301 Laminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021106 LEXMATCH -MONDO:0021106 laminopathy skos:closeMatch Orphanet:98301 Laminopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021106 LEXMATCH -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 LEXMATCH -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22460 LEXMATCH -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021107 LEXMATCH -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021107 LEXMATCH -MONDO:0021129 microphthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nanophthalmos LEXMATCH -MONDO:0021133 acquired factor XIII deficiency skos:closeMatch Orphanet:599513 Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599513 LEXMATCH -MONDO:0021133 acquired factor XIII deficiency skos:closeMatch Orphanet:599513 Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22412 LEXMATCH -MONDO:0021133 acquired factor XIII deficiency skos:closeMatch Orphanet:599513 Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021133 LEXMATCH -MONDO:0021133 acquired factor XIII deficiency skos:closeMatch Orphanet:599513 Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021133 LEXMATCH -MONDO:0021133 acquired factor XIII deficiency skos:closeMatch Orphanet:599513 Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599513 LEXMATCH -MONDO:0021134 acquired factor X deficiency skos:closeMatch Orphanet:599501 Acquired factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599501 LEXMATCH -MONDO:0021134 acquired factor X deficiency skos:closeMatch Orphanet:599501 Acquired factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22410 LEXMATCH -MONDO:0021134 acquired factor X deficiency skos:closeMatch Orphanet:599501 Acquired factor X deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021134 LEXMATCH -MONDO:0021134 acquired factor X deficiency skos:closeMatch Orphanet:599501 Acquired factor X deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021134 LEXMATCH -MONDO:0021134 acquired factor X deficiency skos:closeMatch Orphanet:599501 Acquired factor X deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599501 LEXMATCH -MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19010 LEXMATCH -MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021154 LEXMATCH -MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021154 LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:595109 LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22382 LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021172 LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021172 LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:closeMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:595109 LEXMATCH -MONDO:0021176 autoimmune hepatitis type 2 skos:closeMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563581 LEXMATCH -MONDO:0021176 autoimmune hepatitis type 2 skos:closeMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22252 LEXMATCH -MONDO:0021176 autoimmune hepatitis type 2 skos:closeMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021176 LEXMATCH -MONDO:0021176 autoimmune hepatitis type 2 skos:closeMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021176 LEXMATCH -MONDO:0021176 autoimmune hepatitis type 2 skos:closeMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563581 LEXMATCH -MONDO:0021181 inherited blood coagulation disorder skos:closeMatch Orphanet:183654 Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20319 LEXMATCH -MONDO:0021181 inherited blood coagulation disorder skos:closeMatch Orphanet:183654 Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021181 LEXMATCH -MONDO:0021181 inherited blood coagulation disorder skos:closeMatch Orphanet:183654 Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021181 LEXMATCH -MONDO:0021187 hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 LEXMATCH -MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19765 LEXMATCH -MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal/paraganglial tumor LEXMATCH -MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021227 LEXMATCH -MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021227 LEXMATCH -MONDO:0021272 inherited orthostatic hypotension skos:closeMatch Orphanet:448426 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021272 LEXMATCH -MONDO:0021272 inherited orthostatic hypotension skos:closeMatch Orphanet:448426 Genetic primary orthostatic hypotension semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021272 LEXMATCH -MONDO:0021281 cavernous hemangioma of retina skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 LEXMATCH -MONDO:0021427 squamous cell carcinoma of lip skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502366 LEXMATCH -MONDO:0021427 squamous cell carcinoma of lip skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17933 LEXMATCH -MONDO:0021427 squamous cell carcinoma of lip skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021427 LEXMATCH -MONDO:0021427 squamous cell carcinoma of lip skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021427 LEXMATCH -MONDO:0021427 squamous cell carcinoma of lip skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502366 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617607 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18258 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617607 LEXMATCH -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98994 LEXMATCH -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1159 LEXMATCH -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021548 LEXMATCH -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021548 LEXMATCH -MONDO:0021548 total early-onset cataract skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98994 LEXMATCH -MONDO:0021568 renal tubule disorder skos:closeMatch Orphanet:93603 Rare renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151747 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181350 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98853 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10230 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021569 LEXMATCH -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181350 LEXMATCH -MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616780 LEXMATCH -MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488191 LEXMATCH -MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18496 LEXMATCH -MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021573 LEXMATCH -MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616780 LEXMATCH -MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617712 LEXMATCH -MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404466 LEXMATCH -MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021574 LEXMATCH -MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617712 LEXMATCH -MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617743 LEXMATCH -MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488191 LEXMATCH -MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18497 LEXMATCH -MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021575 LEXMATCH -MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617743 LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003571 LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94 LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12928 LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021636 LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021636 LEXMATCH -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265553 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93403 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5087 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021651 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021651 LEXMATCH -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93403 LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1395264 LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:397587 LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21631 LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0021660 LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0021660 LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:397587 LEXMATCH -MONDO:0021662 bile duct neoplasm skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001650 LEXMATCH -MONDO:0021811 acute mountain sickness skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label high altitude pulmonary edema LEXMATCH -MONDO:0021948 cutaneous tuberculosis skos:closeMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041309 LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:closeMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20882 LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:closeMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022173 LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:closeMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022173 LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:closeMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21404 LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:closeMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022174 LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:closeMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022174 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:closeMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262932 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:closeMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20883 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:closeMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022177 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:closeMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022177 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:closeMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262932 LEXMATCH -MONDO:0022180 chromosome 16 trisomy skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy 16 LEXMATCH -MONDO:0022308 corticobasal degeneration disorder skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454887 LEXMATCH -MONDO:0022308 corticobasal degeneration disorder skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corticobasal syndrome LEXMATCH -MONDO:0022308 corticobasal degeneration disorder skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022308 LEXMATCH -MONDO:0022410 retinal ciliopathy skos:closeMatch Orphanet:156165 Retinal ciliopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19987 LEXMATCH -MONDO:0022410 retinal ciliopathy skos:closeMatch Orphanet:156165 Retinal ciliopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022410 LEXMATCH -MONDO:0022410 retinal ciliopathy skos:closeMatch Orphanet:156165 Retinal ciliopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022410 LEXMATCH -MONDO:0022457 ankyloblepharon filiforme imperforate anus skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1074 LEXMATCH -MONDO:0022457 ankyloblepharon filiforme imperforate anus skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022457 LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:closeMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261965 LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:closeMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20817 LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:closeMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022754 LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:closeMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022754 LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:closeMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261965 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:closeMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:262001 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:closeMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20821 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:closeMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022756 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:closeMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022756 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:closeMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:262001 LEXMATCH -MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy 20 mosaicism LEXMATCH -MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy 20 LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:closeMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20841 LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:closeMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022760 LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:closeMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022760 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:closeMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:261884 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:closeMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20808 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:closeMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022762 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:closeMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022762 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:closeMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:261884 LEXMATCH -MONDO:0022800 type 2 collagenopathy skos:closeMatch Orphanet:93421 Type 2 collagen-related bone disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19186 LEXMATCH -MONDO:0022800 type 2 collagenopathy skos:closeMatch Orphanet:93421 Type 2 collagen-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022800 LEXMATCH -MONDO:0022800 type 2 collagenopathy skos:closeMatch Orphanet:93421 Type 2 collagen-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022800 LEXMATCH -MONDO:0022825 congenital cystic eye skos:closeMatch Orphanet:519384 Congenital cystic eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519384 LEXMATCH -MONDO:0022825 congenital cystic eye skos:closeMatch Orphanet:519384 Congenital cystic eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10617 LEXMATCH -MONDO:0022825 congenital cystic eye skos:closeMatch Orphanet:519384 Congenital cystic eye semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022825 LEXMATCH -MONDO:0022825 congenital cystic eye skos:closeMatch Orphanet:519384 Congenital cystic eye semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022825 LEXMATCH -MONDO:0022825 congenital cystic eye skos:closeMatch Orphanet:519384 Congenital cystic eye semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519384 LEXMATCH -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:closeMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2109 LEXMATCH -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:closeMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:290 LEXMATCH -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:closeMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022851 LEXMATCH -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:closeMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022851 LEXMATCH -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:closeMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2109 LEXMATCH -MONDO:0022968 dextrocardia with situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs inversus totalis LEXMATCH -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:closeMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617916 LEXMATCH -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:closeMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10780 LEXMATCH -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:closeMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0022986 LEXMATCH -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:closeMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0022986 LEXMATCH -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:closeMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617916 LEXMATCH -MONDO:0023038 eccentrochondrodysplasia skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 LEXMATCH -MONDO:0023048 ectodermal dysplasia neurosensory deafness skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 LEXMATCH -MONDO:0023076 eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofuji disease LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176807 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931456 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1331 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4520 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:176807 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023122 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023122 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176807 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1331 LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:176807 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931412 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2048 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2351 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral anterior opercular syndrome LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glosso-masticatory diplegia LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023171 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023171 LEXMATCH -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2048 LEXMATCH -MONDO:0023188 Freiberg disease skos:closeMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:564003 LEXMATCH -MONDO:0023188 Freiberg disease skos:closeMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2380 LEXMATCH -MONDO:0023188 Freiberg disease skos:closeMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023188 LEXMATCH -MONDO:0023188 Freiberg disease skos:closeMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023188 LEXMATCH -MONDO:0023188 Freiberg disease skos:closeMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:564003 LEXMATCH -MONDO:0023201 Fryns Smeets Thiry syndrome skos:closeMatch Orphanet:2058 Fryns-Smeets-Thiry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2409 LEXMATCH -MONDO:0023201 Fryns Smeets Thiry syndrome skos:closeMatch Orphanet:2058 Fryns-Smeets-Thiry syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023201 LEXMATCH -MONDO:0023201 Fryns Smeets Thiry syndrome skos:closeMatch Orphanet:2058 Fryns-Smeets-Thiry syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023201 LEXMATCH -MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:272 LEXMATCH -MONDO:0023204 Fukuda-Miyanomae-Nakata syndrome skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023204 LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22053 LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label functioning neuroendocrine tumor of pancreas LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023206 LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023206 LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931468 LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2111 LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2557 LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023275 LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023275 LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:closeMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2111 LEXMATCH -MONDO:0023419 hyperprolinemia skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proline oxidase deficiency LEXMATCH -MONDO:0023419 hyperprolinemia skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolinemia type 1 LEXMATCH -MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619320 LEXMATCH -MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18547 LEXMATCH -MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619320 LEXMATCH -MONDO:0023659 developmental and epileptic encephalopathy 96 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619340 LEXMATCH -MONDO:0023659 developmental and epileptic encephalopathy 96 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16445 LEXMATCH -MONDO:0023659 developmental and epileptic encephalopathy 96 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619340 LEXMATCH -MONDO:0023660 angioedema, hereditary, 6 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619363 LEXMATCH -MONDO:0023660 angioedema, hereditary, 6 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619363 LEXMATCH -MONDO:0023664 spermatogenic failure 54 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619379 LEXMATCH -MONDO:0023664 spermatogenic failure 54 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619379 LEXMATCH -MONDO:0023671 oculopharyngodistal myopathy 3 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619473 LEXMATCH -MONDO:0023671 oculopharyngodistal myopathy 3 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619473 LEXMATCH -MONDO:0023820 Moebius axonal neuropathy hypogonadism skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 LEXMATCH -MONDO:0023865 corneal infection skos:closeMatch Orphanet:519278 Infective keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22085 LEXMATCH -MONDO:0023865 corneal infection skos:closeMatch Orphanet:519278 Infective keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0023865 LEXMATCH -MONDO:0023865 corneal infection skos:closeMatch Orphanet:519278 Infective keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0023865 LEXMATCH -MONDO:0024237 inherited neurodegenerative disorder skos:closeMatch Orphanet:183500 Genetic neurodegenerative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20280 LEXMATCH -MONDO:0024237 inherited neurodegenerative disorder skos:closeMatch Orphanet:183500 Genetic neurodegenerative disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024237 LEXMATCH -MONDO:0024237 inherited neurodegenerative disorder skos:closeMatch Orphanet:183500 Genetic neurodegenerative disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024237 LEXMATCH -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488613 LEXMATCH -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17893 LEXMATCH -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024252 LEXMATCH -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024252 LEXMATCH -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488613 LEXMATCH -MONDO:0024257 hereditary motor neuron disease skos:closeMatch Orphanet:98505 Genetic motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19478 LEXMATCH -MONDO:0024257 hereditary motor neuron disease skos:closeMatch Orphanet:98505 Genetic motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024257 LEXMATCH -MONDO:0024257 hereditary motor neuron disease skos:closeMatch Orphanet:98505 Genetic motor neuron disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024257 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95712 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024264 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95713 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024264 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95719 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024264 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95720 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hypoplasia LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024264 LEXMATCH -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:218700 LEXMATCH -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 LEXMATCH -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:10763 LEXMATCH -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs LEXMATCH -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome LEXMATCH -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:126800 LEXMATCH -MONDO:0024266 patent ductus arteriosus 3 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617039 LEXMATCH -MONDO:0024266 patent ductus arteriosus 3 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18490 LEXMATCH -MONDO:0024266 patent ductus arteriosus 3 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617039 LEXMATCH -MONDO:0024275 amebic dysentery skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label amoebiasis due to entamoeba histolytica LEXMATCH -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201300 LEXMATCH -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15129 LEXMATCH -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201300 LEXMATCH -MONDO:0024336 vulvar adenocarcinoma skos:closeMatch Orphanet:494454 Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494454 LEXMATCH -MONDO:0024336 vulvar adenocarcinoma skos:closeMatch Orphanet:494454 Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22007 LEXMATCH -MONDO:0024336 vulvar adenocarcinoma skos:closeMatch Orphanet:494454 Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024336 LEXMATCH -MONDO:0024336 vulvar adenocarcinoma skos:closeMatch Orphanet:494454 Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024336 LEXMATCH -MONDO:0024336 vulvar adenocarcinoma skos:closeMatch Orphanet:494454 Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494454 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2013 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180700 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism LEXMATCH -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180700 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:91483 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2978 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024456 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601631 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98978 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:2978 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024456 LEXMATCH -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601631 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256600 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:35069 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3957 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024457 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024457 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256600 LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:35069 LEXMATCH -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233300 LEXMATCH -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18039 LEXMATCH -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233300 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:217566 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024465 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610913 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:440392 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024465 LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610913 LEXMATCH -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601471 LEXMATCH -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832284 LEXMATCH -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601471 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:101334 African tick typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:101334 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:101334 African tick typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19781 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:101334 African tick typhus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024472 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:101334 African tick typhus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024472 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:101334 African tick typhus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:101334 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006045 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:83313 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19031 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024472 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024472 LEXMATCH -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:83313 LEXMATCH -MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251627 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024498 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251630 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024498 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:301 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024498 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:360 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024498 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024498 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137800 LEXMATCH -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:137800 LEXMATCH -MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2437 LEXMATCH -MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gep-nen LEXMATCH -MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024503 LEXMATCH -MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024503 LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506090 LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22055 LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label serotonin-producing neuroendocrine tumor of pancreas LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024504 LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024504 LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506090 LEXMATCH -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100300 LEXMATCH -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies LEXMATCH -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:100300 LEXMATCH -MONDO:0024507 aniridia 1 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 LEXMATCH -MONDO:0024507 aniridia 1 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106210 LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18286 LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613339 LEXMATCH -MONDO:0024517 schwannomatosis 1 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 LEXMATCH -MONDO:0024517 schwannomatosis 1 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:162091 LEXMATCH -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 LEXMATCH -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191830 LEXMATCH -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 LEXMATCH -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis LEXMATCH -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:191830 LEXMATCH -MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 LEXMATCH -MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617805 LEXMATCH -MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 LEXMATCH -MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617805 LEXMATCH -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100070 LEXMATCH -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16491 LEXMATCH -MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:100070 LEXMATCH -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 LEXMATCH -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18637 LEXMATCH -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:105250 LEXMATCH -MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109730 LEXMATCH -MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18470 LEXMATCH -MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:109730 LEXMATCH -MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127500 LEXMATCH -MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:127500 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134600 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3337 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9118 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:134600 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024525 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024525 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:134600 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3337 LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:134600 LEXMATCH -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135500 LEXMATCH -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15071 LEXMATCH -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome LEXMATCH -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:135500 LEXMATCH -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137950 LEXMATCH -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:9268 LEXMATCH -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137950 LEXMATCH -MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157640 LEXMATCH -MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13174 LEXMATCH -MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:157640 LEXMATCH -MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157640 LEXMATCH -MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:157640 LEXMATCH -MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157700 LEXMATCH -MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3688 LEXMATCH -MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:157700 LEXMATCH -MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:157700 LEXMATCH -MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:157700 LEXMATCH -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy LEXMATCH -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160565 LEXMATCH -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubular aggregate myopathy LEXMATCH -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:160565 LEXMATCH -MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166780 LEXMATCH -MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16502 LEXMATCH -MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:166780 LEXMATCH -MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:166780 LEXMATCH -MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:166780 LEXMATCH -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension LEXMATCH -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 LEXMATCH -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 LEXMATCH -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178600 LEXMATCH -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 LEXMATCH -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178600 LEXMATCH -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179850 LEXMATCH -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 LEXMATCH -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures LEXMATCH -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179850 LEXMATCH -MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182250 LEXMATCH -MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:182250 LEXMATCH -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202200 LEXMATCH -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202200 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572543 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18010 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024537 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024537 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211530 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572543 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211530 LEXMATCH -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213600 LEXMATCH -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 LEXMATCH -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:213600 LEXMATCH -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213600 LEXMATCH -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:213600 LEXMATCH -MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215500 LEXMATCH -MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215500 LEXMATCH -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 LEXMATCH -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220400 LEXMATCH -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 LEXMATCH -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:220400 LEXMATCH -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222470 LEXMATCH -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:222470 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysequilibrium syndrome LEXMATCH -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:224050 LEXMATCH -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229200 LEXMATCH -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229200 LEXMATCH -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 LEXMATCH -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850808 LEXMATCH -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi myopathy LEXMATCH -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254130 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1525 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024546 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15216 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:259100 LEXMATCH -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:259100 LEXMATCH -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 LEXMATCH -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15220 LEXMATCH -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260370 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270300 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:263553 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17259 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024548 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024548 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270300 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:263553 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin LEXMATCH -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300345 LEXMATCH -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300345 LEXMATCH -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305620 LEXMATCH -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15293 LEXMATCH -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305620 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disease LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308240 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538931 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7906 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024551 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024551 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308240 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538931 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp LEXMATCH -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309801 LEXMATCH -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome LEXMATCH -MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:309801 LEXMATCH -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600462 LEXMATCH -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838103 LEXMATCH -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia LEXMATCH -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600462 LEXMATCH -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600721 LEXMATCH -MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600721 LEXMATCH -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604004 LEXMATCH -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts LEXMATCH -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604004 LEXMATCH -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604364 LEXMATCH -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18202 LEXMATCH -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:604364 LEXMATCH -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604364 LEXMATCH -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:604364 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858391 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251347 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17209 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024557 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024557 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604391 LEXMATCH -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251347 LEXMATCH -MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605432 LEXMATCH -MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18068 LEXMATCH -MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605432 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:229 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1654 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024559 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024559 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607086 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:229 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15408 LEXMATCH -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607086 LEXMATCH -MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607411 LEXMATCH -MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:7342 LEXMATCH -MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607411 LEXMATCH -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608161 LEXMATCH -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608161 LEXMATCH -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608567 LEXMATCH -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608567 LEXMATCH -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610551 LEXMATCH -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610551 LEXMATCH -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612199 LEXMATCH -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18441 LEXMATCH -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc LEXMATCH -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coats plus syndrome LEXMATCH -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:612199 LEXMATCH -MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613573 LEXMATCH -MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613573 LEXMATCH -MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614418 LEXMATCH -MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18283 LEXMATCH -MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614418 LEXMATCH -MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615419 LEXMATCH -MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18457 LEXMATCH -MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615419 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615438 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:370088 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13114 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024568 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024568 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615438 LEXMATCH -MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:370088 LEXMATCH -MONDO:0024569 optic atrophy 8 skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616648 LEXMATCH -MONDO:0024569 optic atrophy 8 skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16148 LEXMATCH -MONDO:0024569 optic atrophy 8 skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616648 LEXMATCH -MONDO:0024570 hyperparathyroidism 4 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617343 LEXMATCH -MONDO:0024570 hyperparathyroidism 4 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18256 LEXMATCH -MONDO:0024570 hyperparathyroidism 4 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617343 LEXMATCH -MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 LEXMATCH -MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 LEXMATCH -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 LEXMATCH -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disease LEXMATCH -MONDO:0024609 vulvar squamous cell carcinoma skos:closeMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494448 LEXMATCH -MONDO:0024609 vulvar squamous cell carcinoma skos:closeMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22005 LEXMATCH -MONDO:0024609 vulvar squamous cell carcinoma skos:closeMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024609 LEXMATCH -MONDO:0024609 vulvar squamous cell carcinoma skos:closeMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024609 LEXMATCH -MONDO:0024609 vulvar squamous cell carcinoma skos:closeMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494448 LEXMATCH -MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022498 LEXMATCH -MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039106 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:66627 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7396 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type gct LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type giant cell tumor LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0024686 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0024686 LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:66627 LEXMATCH -MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301074 LEXMATCH -MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301074 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834014 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98897 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12592 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0025193 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0025193 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98897 LEXMATCH -MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301058 LEXMATCH -MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15286 LEXMATCH -MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301058 LEXMATCH -MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301059 LEXMATCH -MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301059 LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542643 LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12784 LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis with summer ulcerations LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0025514 LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0025514 LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542643 LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1561989 LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171673 LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20123 LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0025667 LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0025667 LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171673 LEXMATCH -MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619278 LEXMATCH -MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18439 LEXMATCH -MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619278 LEXMATCH -MONDO:0025699 Coffin-Siris syndrome 12 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619325 LEXMATCH -MONDO:0025699 Coffin-Siris syndrome 12 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16443 LEXMATCH -MONDO:0025699 Coffin-Siris syndrome 12 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619325 LEXMATCH -MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619351 LEXMATCH -MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16447 LEXMATCH -MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619351 LEXMATCH -MONDO:0025712 angioedema, hereditary, 4 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619360 LEXMATCH -MONDO:0025712 angioedema, hereditary, 4 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619360 LEXMATCH -MONDO:0025713 angioedema, hereditary, 7 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619366 LEXMATCH -MONDO:0025713 angioedema, hereditary, 7 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619366 LEXMATCH -MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 LEXMATCH -MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15283 LEXMATCH -MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301020 LEXMATCH -MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301021 LEXMATCH -MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15284 LEXMATCH -MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301021 LEXMATCH -MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301028 LEXMATCH -MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15285 LEXMATCH -MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301028 LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301029 LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18511 LEXMATCH -MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301029 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:301043 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301054 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596753 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:15001 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0026777 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0026777 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301054 LEXMATCH -MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596753 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610253 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610253 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 LEXMATCH -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610253 LEXMATCH -MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617403 LEXMATCH -MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617403 LEXMATCH -MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617403 LEXMATCH -MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617403 LEXMATCH -MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617402 LEXMATCH -MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617402 LEXMATCH -MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617402 LEXMATCH -MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617402 LEXMATCH -MONDO:0027652 5-fluorouracil toxicity skos:closeMatch Orphanet:240839 Prediction of 5-fluorouracil toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027652 LEXMATCH -MONDO:0027652 5-fluorouracil toxicity skos:closeMatch Orphanet:240839 Prediction of 5-fluorouracil toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027652 LEXMATCH -MONDO:0027653 abacavir toxicity skos:closeMatch Orphanet:240841 Prediction of abacavir toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027653 LEXMATCH -MONDO:0027653 abacavir toxicity skos:closeMatch Orphanet:240841 Prediction of abacavir toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027653 LEXMATCH -MONDO:0027655 allopurinol toxicity skos:closeMatch Orphanet:240845 Prediction of allopurinol toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027655 LEXMATCH -MONDO:0027655 allopurinol toxicity skos:closeMatch Orphanet:240845 Prediction of allopurinol toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027655 LEXMATCH -MONDO:0027664 cisplatin toxicity skos:closeMatch Orphanet:240863 Prediction of cisplatin toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027664 LEXMATCH -MONDO:0027664 cisplatin toxicity skos:closeMatch Orphanet:240863 Prediction of cisplatin toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027664 LEXMATCH -MONDO:0027666 codeine toxicity skos:closeMatch Orphanet:240867 Prediction of codeine toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027666 LEXMATCH -MONDO:0027666 codeine toxicity skos:closeMatch Orphanet:240867 Prediction of codeine toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027666 LEXMATCH -MONDO:0027667 efavirenz toxicity skos:closeMatch Orphanet:240869 Prediction of efavirenz toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027667 LEXMATCH -MONDO:0027667 efavirenz toxicity skos:closeMatch Orphanet:240869 Prediction of efavirenz toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027667 LEXMATCH -MONDO:0027668 flucloxacilline toxicity skos:closeMatch Orphanet:240871 Prediction of flucloxacilline toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027668 LEXMATCH -MONDO:0027668 flucloxacilline toxicity skos:closeMatch Orphanet:240871 Prediction of flucloxacilline toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027668 LEXMATCH -MONDO:0027675 irinotecan toxicity skos:closeMatch Orphanet:240885 Prediction of irinotecan toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027675 LEXMATCH -MONDO:0027675 irinotecan toxicity skos:closeMatch Orphanet:240885 Prediction of irinotecan toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027675 LEXMATCH -MONDO:0027677 isoniazid toxicity skos:closeMatch Orphanet:240887 Prediction of isoniazid toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027677 LEXMATCH -MONDO:0027677 isoniazid toxicity skos:closeMatch Orphanet:240887 Prediction of isoniazid toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027677 LEXMATCH -MONDO:0027687 raltegravir toxicity skos:closeMatch Orphanet:240905 Prediction of raltegravir toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027687 LEXMATCH -MONDO:0027687 raltegravir toxicity skos:closeMatch Orphanet:240905 Prediction of raltegravir toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027687 LEXMATCH -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617839 LEXMATCH -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16262 LEXMATCH -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617839 LEXMATCH -MONDO:0027696 voriconazole toxicity skos:closeMatch Orphanet:240921 Prediction of voriconazole toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027696 LEXMATCH -MONDO:0027696 voriconazole toxicity skos:closeMatch Orphanet:240921 Prediction of voriconazole toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027696 LEXMATCH -MONDO:0027749 serpinopathy skos:closeMatch Orphanet:250805 Serpinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20683 LEXMATCH -MONDO:0027749 serpinopathy skos:closeMatch Orphanet:250805 Serpinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0027749 LEXMATCH -MONDO:0027749 serpinopathy skos:closeMatch Orphanet:250805 Serpinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0027749 LEXMATCH -MONDO:0028226 autosomal recessive severe congenital neutropenia skos:closeMatch Orphanet:439849 Autosomal recessive severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21834 LEXMATCH -MONDO:0028226 autosomal recessive severe congenital neutropenia skos:closeMatch Orphanet:439849 Autosomal recessive severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0028226 LEXMATCH -MONDO:0028226 autosomal recessive severe congenital neutropenia skos:closeMatch Orphanet:439849 Autosomal recessive severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0028226 LEXMATCH -MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618123 LEXMATCH -MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16293 LEXMATCH -MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618123 LEXMATCH -MONDO:0029132 Liddle syndrome 3 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618126 LEXMATCH -MONDO:0029132 Liddle syndrome 3 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618126 LEXMATCH -MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618129 LEXMATCH -MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618129 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542301 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17981 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0029134 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0029134 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618131 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542301 LEXMATCH -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 LEXMATCH -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16294 LEXMATCH -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618135 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618138 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618138 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565837 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22270 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0029136 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0029136 LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565837 LEXMATCH -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 LEXMATCH -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18151 LEXMATCH -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618140 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16295 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618141 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618141 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618141 LEXMATCH -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618145 LEXMATCH -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22659 LEXMATCH -MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618145 LEXMATCH -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618148 LEXMATCH -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618148 LEXMATCH -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency LEXMATCH -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618148 LEXMATCH -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618148 LEXMATCH -MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618149 LEXMATCH -MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18308 LEXMATCH -MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618149 LEXMATCH -MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618149 LEXMATCH -MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618149 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18406 LEXMATCH -MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618152 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618153 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18407 LEXMATCH -MONDO:0029148 spermatogenic failure 34 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618153 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618835 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570491 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18006 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618835 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030006 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030006 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618835 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570491 LEXMATCH -MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618835 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618840 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16386 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618840 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618840 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618840 LEXMATCH -MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618841 LEXMATCH -MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16387 LEXMATCH -MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618841 LEXMATCH -MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618841 LEXMATCH -MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618841 LEXMATCH -MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618853 LEXMATCH -MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618853 LEXMATCH -MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618853 LEXMATCH -MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618853 LEXMATCH -MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618855 LEXMATCH -MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618855 LEXMATCH -MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618855 LEXMATCH -MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618855 LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:closeMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589442 LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:closeMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22350 LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:closeMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030045 LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:closeMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030045 LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:closeMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589442 LEXMATCH -MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618906 LEXMATCH -MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18522 LEXMATCH -MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618906 LEXMATCH -MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618906 LEXMATCH -MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618906 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618910 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16391 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618910 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618910 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618910 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618913 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16392 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618913 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618913 LEXMATCH -MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618913 LEXMATCH -MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618914 LEXMATCH -MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18523 LEXMATCH -MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618914 LEXMATCH -MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618914 LEXMATCH -MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618914 LEXMATCH -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 LEXMATCH -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18155 LEXMATCH -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618915 LEXMATCH -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618915 LEXMATCH -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618915 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618916 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16393 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618916 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618916 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618916 LEXMATCH -MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618918 LEXMATCH -MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16394 LEXMATCH -MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618918 LEXMATCH -MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618918 LEXMATCH -MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618918 LEXMATCH -MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618920 LEXMATCH -MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618920 LEXMATCH -MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618920 LEXMATCH -MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618920 LEXMATCH -MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618922 LEXMATCH -MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18524 LEXMATCH -MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618922 LEXMATCH -MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618935 LEXMATCH -MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16395 LEXMATCH -MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618935 LEXMATCH -MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618935 LEXMATCH -MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618935 LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618939 LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16396 LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618939 LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618939 LEXMATCH -MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618939 LEXMATCH -MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618948 LEXMATCH -MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618948 LEXMATCH -MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618955 LEXMATCH -MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618955 LEXMATCH -MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618955 LEXMATCH -MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618955 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618959 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16398 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618959 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618959 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618959 LEXMATCH -MONDO:0030073 Mitchell syndrome skos:closeMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618960 LEXMATCH -MONDO:0030073 Mitchell syndrome skos:closeMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631248 LEXMATCH -MONDO:0030073 Mitchell syndrome skos:closeMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030073 LEXMATCH -MONDO:0030073 Mitchell syndrome skos:closeMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030073 LEXMATCH -MONDO:0030073 Mitchell syndrome skos:closeMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618960 LEXMATCH -MONDO:0030073 Mitchell syndrome skos:closeMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631248 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618961 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589435 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18016 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618961 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030074 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030074 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618961 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589435 LEXMATCH -MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618961 LEXMATCH -MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618845 LEXMATCH -MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18510 LEXMATCH -MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618845 LEXMATCH -MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618845 LEXMATCH -MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618845 LEXMATCH -MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618856 LEXMATCH -MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16388 LEXMATCH -MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618856 LEXMATCH -MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618856 LEXMATCH -MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618856 LEXMATCH -MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618857 LEXMATCH -MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16389 LEXMATCH -MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618857 LEXMATCH -MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618857 LEXMATCH -MONDO:0030088 diabetes mellitus, permanent neonatal 3 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618857 LEXMATCH -MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618858 LEXMATCH -MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16390 LEXMATCH -MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618858 LEXMATCH -MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618858 LEXMATCH -MONDO:0030089 diabetes mellitus, permanent neonatal 4 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618858 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570422 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18005 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030105 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030105 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570422 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618881 LEXMATCH -MONDO:0030118 silver-russell syndrome 4 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618907 LEXMATCH -MONDO:0030118 silver-russell syndrome 4 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18464 LEXMATCH -MONDO:0030118 silver-russell syndrome 4 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618907 LEXMATCH -MONDO:0030118 silver-russell syndrome 4 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618907 LEXMATCH -MONDO:0030118 silver-russell syndrome 4 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618907 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618940 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16397 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618940 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618940 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618940 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619301 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:613274 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18562 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18032 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030258 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030258 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619301 LEXMATCH -MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:613274 LEXMATCH -MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:closeMatch Orphanet:613274 Pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18563 LEXMATCH -MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619303 LEXMATCH -MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16441 LEXMATCH -MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619303 LEXMATCH -MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619304 LEXMATCH -MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16442 LEXMATCH -MONDO:0030261 pontocerebellar hypoplasia, type 1F skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619304 LEXMATCH -MONDO:0030268 developmental and epileptic encephalopathy 6B skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619317 LEXMATCH -MONDO:0030268 developmental and epileptic encephalopathy 6B skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619317 LEXMATCH -MONDO:0030293 angioedema, hereditary, 5 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619361 LEXMATCH -MONDO:0030293 angioedema, hereditary, 5 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619361 LEXMATCH -MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619362 LEXMATCH -MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619362 LEXMATCH -MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619365 LEXMATCH -MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619365 LEXMATCH -MONDO:0030300 cardiomyopathy, dilated, 2D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619371 LEXMATCH -MONDO:0030300 cardiomyopathy, dilated, 2D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619371 LEXMATCH -MONDO:0030307 spermatogenic failure 55 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619380 LEXMATCH -MONDO:0030307 spermatogenic failure 55 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619380 LEXMATCH -MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619382 LEXMATCH -MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619382 LEXMATCH -MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619431 LEXMATCH -MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619431 LEXMATCH -MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619433 LEXMATCH -MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619433 LEXMATCH -MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619435 LEXMATCH -MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619435 LEXMATCH -MONDO:0030332 ciliary dyskinesia, primary, 46 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619436 LEXMATCH -MONDO:0030332 ciliary dyskinesia, primary, 46 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619436 LEXMATCH -MONDO:0030335 diarrhea 12, with microvillus atrophy skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619445 LEXMATCH -MONDO:0030335 diarrhea 12, with microvillus atrophy skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619445 LEXMATCH -MONDO:0030338 anencephaly 2 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619452 LEXMATCH -MONDO:0030338 anencephaly 2 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619452 LEXMATCH -MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619453 LEXMATCH -MONDO:0030339 microcephaly 28, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619453 LEXMATCH -MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619461 LEXMATCH -MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619461 LEXMATCH -MONDO:0030353 Joubert syndrome 38 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619476 LEXMATCH -MONDO:0030353 Joubert syndrome 38 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619476 LEXMATCH -MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619477 LEXMATCH -MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619477 LEXMATCH -MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619478 LEXMATCH -MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619478 LEXMATCH -MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619479 LEXMATCH -MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619479 LEXMATCH -MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619484 LEXMATCH -MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619484 LEXMATCH -MONDO:0030361 Aicardi-Goutieres syndrome 8 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619486 LEXMATCH -MONDO:0030361 Aicardi-Goutieres syndrome 8 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619486 LEXMATCH -MONDO:0030362 Aicardi-Goutieres syndrome 9 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619487 LEXMATCH -MONDO:0030362 Aicardi-Goutieres syndrome 9 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619487 LEXMATCH -MONDO:0030366 cardiomyopathy, dilated, 2E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619492 LEXMATCH -MONDO:0030366 cardiomyopathy, dilated, 2E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619492 LEXMATCH -MONDO:0030376 Martsolf syndrome 2 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619420 LEXMATCH -MONDO:0030376 Martsolf syndrome 2 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619420 LEXMATCH -MONDO:0030430 spermatogenic failure 56 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619515 LEXMATCH -MONDO:0030430 spermatogenic failure 56 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619515 LEXMATCH -MONDO:0030436 anemia, sideroblastic, 5 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619523 LEXMATCH -MONDO:0030436 anemia, sideroblastic, 5 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619523 LEXMATCH -MONDO:0030439 spermatogenic failure 57 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619528 LEXMATCH -MONDO:0030439 spermatogenic failure 57 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619528 LEXMATCH -MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619531 LEXMATCH -MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619531 LEXMATCH -MONDO:0030453 developmental and epileptic encephalopathy 97 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619561 LEXMATCH -MONDO:0030453 developmental and epileptic encephalopathy 97 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619561 LEXMATCH -MONDO:0030454 Joubert syndrome 39 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619562 LEXMATCH -MONDO:0030454 Joubert syndrome 39 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619562 LEXMATCH -MONDO:0030462 Joubert syndrome 40 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619582 LEXMATCH -MONDO:0030462 Joubert syndrome 40 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619582 LEXMATCH -MONDO:0030463 spermatogenic failure 58 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619585 LEXMATCH -MONDO:0030463 spermatogenic failure 58 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619585 LEXMATCH -MONDO:0030465 cataract 49 skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619593 LEXMATCH -MONDO:0030465 cataract 49 skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619593 LEXMATCH -MONDO:0030471 Galloway-Mowat syndrome 9 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619603 LEXMATCH -MONDO:0030471 Galloway-Mowat syndrome 9 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619603 LEXMATCH -MONDO:0030472 developmental and epileptic encephalopathy 98 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619605 LEXMATCH -MONDO:0030472 developmental and epileptic encephalopathy 98 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619605 LEXMATCH -MONDO:0030473 developmental and epileptic encephalopathy 99 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619606 LEXMATCH -MONDO:0030473 developmental and epileptic encephalopathy 99 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619606 LEXMATCH -MONDO:0030476 Galloway-Mowat syndrome 10 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619609 LEXMATCH -MONDO:0030476 Galloway-Mowat syndrome 10 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619609 LEXMATCH -MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619615 LEXMATCH -MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619615 LEXMATCH -MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619555 LEXMATCH -MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619555 LEXMATCH -MONDO:0030492 spermatogenic failure 59 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619645 LEXMATCH -MONDO:0030492 spermatogenic failure 59 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619645 LEXMATCH -MONDO:0030493 spermatogenic failure 60 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619646 LEXMATCH -MONDO:0030493 spermatogenic failure 60 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619646 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619656 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619656 LEXMATCH -MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619662 LEXMATCH -MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619662 LEXMATCH -MONDO:0030507 spermatogenic failure 61 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619672 LEXMATCH -MONDO:0030507 spermatogenic failure 61 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619672 LEXMATCH -MONDO:0030508 spermatogenic failure 62 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619673 LEXMATCH -MONDO:0030508 spermatogenic failure 62 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619673 LEXMATCH -MONDO:0030515 spermatogenic failure 63 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619689 LEXMATCH -MONDO:0030515 spermatogenic failure 63 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619689 LEXMATCH -MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619691 LEXMATCH -MONDO:0030517 trichothiodystrophy 8, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619691 LEXMATCH -MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619692 LEXMATCH -MONDO:0030518 trichothiodystrophy 9, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619692 LEXMATCH -MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619693 LEXMATCH -MONDO:0030519 agammaglobulinemia 9, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619693 LEXMATCH -MONDO:0030522 spermatogenic failure 64 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619696 LEXMATCH -MONDO:0030522 spermatogenic failure 64 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619696 LEXMATCH -MONDO:0030527 epidermolysis bullosa simplex 2C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619594 LEXMATCH -MONDO:0030527 epidermolysis bullosa simplex 2C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619594 LEXMATCH -MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619707 LEXMATCH -MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619707 LEXMATCH -MONDO:0030531 spermatogenic failure 65 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619712 LEXMATCH -MONDO:0030531 spermatogenic failure 65 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619712 LEXMATCH -MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619599 LEXMATCH -MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619599 LEXMATCH -MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619482 LEXMATCH -MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619482 LEXMATCH -MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619483 LEXMATCH -MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619483 LEXMATCH -MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 LEXMATCH -MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619500 LEXMATCH -MONDO:0030608 interstitial lung disease 1 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619611 LEXMATCH -MONDO:0030608 interstitial lung disease 1 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619611 LEXMATCH -MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619708 LEXMATCH -MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619708 LEXMATCH -MONDO:0030679 Noonan syndrome 14 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619745 LEXMATCH -MONDO:0030679 Noonan syndrome 14 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619745 LEXMATCH -MONDO:0030680 cardiomyopathy, dilated, 2F skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619747 LEXMATCH -MONDO:0030680 cardiomyopathy, dilated, 2F skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619747 LEXMATCH -MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619755 LEXMATCH -MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619755 LEXMATCH -MONDO:0030695 developmental and epileptic encephalopathy 100 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619777 LEXMATCH -MONDO:0030695 developmental and epileptic encephalopathy 100 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619777 LEXMATCH -MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619780 LEXMATCH -MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619780 LEXMATCH -MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619789 LEXMATCH -MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619789 LEXMATCH -MONDO:0030712 oculopharyngodistal myopathy 4 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619790 LEXMATCH -MONDO:0030712 oculopharyngodistal myopathy 4 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619790 LEXMATCH -MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619795 LEXMATCH -MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619795 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619799 LEXMATCH -MONDO:0030716 spermatogenic failure 66 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619799 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 LEXMATCH -MONDO:0030718 spermatogenic failure 67 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619803 LEXMATCH -MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619804 LEXMATCH -MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619804 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 LEXMATCH -MONDO:0030721 spermatogenic failure 68 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619805 LEXMATCH -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 LEXMATCH -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619808 LEXMATCH -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619810 LEXMATCH -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619810 LEXMATCH -MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619813 LEXMATCH -MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619813 LEXMATCH -MONDO:0030727 developmental and epileptic encephalopathy 101 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619814 LEXMATCH -MONDO:0030727 developmental and epileptic encephalopathy 101 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619814 LEXMATCH -MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619825 LEXMATCH -MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619825 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619826 LEXMATCH -MONDO:0030732 spermatogenic failure 69 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619826 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619828 LEXMATCH -MONDO:0030733 spermatogenic failure 70 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619828 LEXMATCH -MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619783 LEXMATCH -MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619783 LEXMATCH -MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619785 LEXMATCH -MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619785 LEXMATCH -MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619786 LEXMATCH -MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619786 LEXMATCH -MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619787 LEXMATCH -MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619787 LEXMATCH -MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619751 LEXMATCH -MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619751 LEXMATCH -MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619816 LEXMATCH -MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619816 LEXMATCH -MONDO:0030781 restrictive dermopathy 2 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619793 LEXMATCH -MONDO:0030781 restrictive dermopathy 2 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619793 LEXMATCH -MONDO:0030797 retinitis pigmentosa 93 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619845 LEXMATCH -MONDO:0030797 retinitis pigmentosa 93 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619845 LEXMATCH -MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619849 LEXMATCH -MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619849 LEXMATCH -MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619041 LEXMATCH -MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18506 LEXMATCH -MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619041 LEXMATCH -MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619041 LEXMATCH -MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619041 LEXMATCH -MONDO:0030805 spinocerebellar ataxia 49 skos:closeMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631106 LEXMATCH -MONDO:0030805 spinocerebellar ataxia 49 skos:closeMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030805 LEXMATCH -MONDO:0030805 spinocerebellar ataxia 49 skos:closeMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030805 LEXMATCH -MONDO:0030805 spinocerebellar ataxia 49 skos:closeMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631106 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 LEXMATCH -MONDO:0030809 spermatogenic failure 72 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619867 LEXMATCH -MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619868 LEXMATCH -MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619868 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 LEXMATCH -MONDO:0030818 spermatogenic failure 73 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619878 LEXMATCH -MONDO:0030819 meckel syndrome 14 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619879 LEXMATCH -MONDO:0030819 meckel syndrome 14 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619879 LEXMATCH -MONDO:0030822 renal hypodysplasia/aplasia 4 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619887 LEXMATCH -MONDO:0030822 renal hypodysplasia/aplasia 4 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619887 LEXMATCH -MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619840 LEXMATCH -MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619840 LEXMATCH -MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619092 LEXMATCH -MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18535 LEXMATCH -MONDO:0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619092 LEXMATCH -MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619855 LEXMATCH -MONDO:0030839 thyroid hormone metabolism, abnormal, 2 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619855 LEXMATCH -MONDO:0030840 mismatch repair cancer syndrome 2 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619096 LEXMATCH -MONDO:0030840 mismatch repair cancer syndrome 2 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18362 LEXMATCH -MONDO:0030840 mismatch repair cancer syndrome 2 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619096 LEXMATCH -MONDO:0030840 mismatch repair cancer syndrome 2 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619096 LEXMATCH -MONDO:0030840 mismatch repair cancer syndrome 2 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619096 LEXMATCH -MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619097 LEXMATCH -MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18363 LEXMATCH -MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619097 LEXMATCH -MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619097 LEXMATCH -MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619097 LEXMATCH -MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619101 LEXMATCH -MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18364 LEXMATCH -MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619101 LEXMATCH -MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619101 LEXMATCH -MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619101 LEXMATCH -MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619102 LEXMATCH -MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619102 LEXMATCH -MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619102 LEXMATCH -MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619102 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619108 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16420 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619108 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619108 LEXMATCH -MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619108 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16421 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619110 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619110 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619110 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 LEXMATCH -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619110 LEXMATCH -MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619099 LEXMATCH -MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18536 LEXMATCH -MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619099 LEXMATCH -MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619099 LEXMATCH -MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619099 LEXMATCH -MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619115 LEXMATCH -MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18316 LEXMATCH -MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619115 LEXMATCH -MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619120 LEXMATCH -MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18317 LEXMATCH -MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619120 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619124 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16424 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619124 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619124 LEXMATCH -MONDO:0030856 developmental and epileptic encephalopathy 89 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619124 LEXMATCH -MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:98291 Lymphoproliferative disease associated with primary immune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18194 LEXMATCH -MONDO:0030859 COACH syndrome 2 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619111 LEXMATCH -MONDO:0030859 COACH syndrome 2 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16422 LEXMATCH -MONDO:0030859 COACH syndrome 2 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619111 LEXMATCH -MONDO:0030859 COACH syndrome 2 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619111 LEXMATCH -MONDO:0030859 COACH syndrome 2 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619111 LEXMATCH -MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619112 LEXMATCH -MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18268 LEXMATCH -MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619112 LEXMATCH -MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619112 LEXMATCH -MONDO:0030860 neuronopathy, distal hereditary motor, type 5C skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619112 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619131 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619131 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619131 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619131 LEXMATCH -MONDO:0030862 COACH syndrome 3 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619113 LEXMATCH -MONDO:0030862 COACH syndrome 3 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16423 LEXMATCH -MONDO:0030862 COACH syndrome 3 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619113 LEXMATCH -MONDO:0030862 COACH syndrome 3 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619113 LEXMATCH -MONDO:0030862 COACH syndrome 3 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619113 LEXMATCH -MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619135 LEXMATCH -MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16426 LEXMATCH -MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619135 LEXMATCH -MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619135 LEXMATCH -MONDO:0030864 Ritscher-Schinzel syndrome 3 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619135 LEXMATCH -MONDO:0030867 thrombocytopenia 7 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619130 LEXMATCH -MONDO:0030867 thrombocytopenia 7 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18492 LEXMATCH -MONDO:0030867 thrombocytopenia 7 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619130 LEXMATCH -MONDO:0030867 thrombocytopenia 7 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619130 LEXMATCH -MONDO:0030867 thrombocytopenia 7 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619130 LEXMATCH -MONDO:0030868 spermatogenic failure 49 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619144 LEXMATCH -MONDO:0030868 spermatogenic failure 49 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619144 LEXMATCH -MONDO:0030868 spermatogenic failure 49 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619144 LEXMATCH -MONDO:0030868 spermatogenic failure 49 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619144 LEXMATCH -MONDO:0030869 spermatogenic failures 50 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619145 LEXMATCH -MONDO:0030869 spermatogenic failures 50 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619145 LEXMATCH -MONDO:0030869 spermatogenic failures 50 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619145 LEXMATCH -MONDO:0030869 spermatogenic failures 50 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619145 LEXMATCH -MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619132 LEXMATCH -MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18395 LEXMATCH -MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619132 LEXMATCH -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619141 LEXMATCH -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16427 LEXMATCH -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619141 LEXMATCH -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619141 LEXMATCH -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16427 LEXMATCH -MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619141 LEXMATCH -MONDO:0030878 Kaya-Barakat-Masson syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619125 LEXMATCH -MONDO:0030878 Kaya-Barakat-Masson syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18537 LEXMATCH -MONDO:0030878 Kaya-Barakat-Masson syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619125 LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617159 LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:closeMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617159 LEXMATCH +MONDO:0015999 primary pigmented nodular adrenocortical disease skos:closeMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4304832 LEXMATCH +MONDO:0015999 primary pigmented nodular adrenocortical disease skos:closeMatch Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4304832 LEXMATCH +MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphocytic mastopathy LEXMATCH +MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing lymphocytic lobulitis LEXMATCH +MONDO:0022972 diabetic mastopathy skos:closeMatch Orphanet:653698 Lymphocytic mastitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic mastitis LEXMATCH +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646098 Collagen VI-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH +MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301082 LEXMATCH +MONDO:0024781 immunodeficiency 102 skos:closeMatch Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301082 LEXMATCH +MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:closeMatch Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618944 LEXMATCH +MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive skos:closeMatch Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618944 LEXMATCH +MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619751 LEXMATCH +MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:closeMatch Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619751 LEXMATCH MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:closeMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619127 LEXMATCH MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:closeMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619127 LEXMATCH -MONDO:0030881 developmental and epileptic encephalopathy 102 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619881 LEXMATCH -MONDO:0030881 developmental and epileptic encephalopathy 102 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619881 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16425 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619133 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16425 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619133 LEXMATCH -MONDO:0030886 holoprosencephaly 14 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619895 LEXMATCH -MONDO:0030886 holoprosencephaly 14 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619895 LEXMATCH -MONDO:0030887 cardiomyopathy, dilated, 2G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619897 LEXMATCH -MONDO:0030887 cardiomyopathy, dilated, 2G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619897 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619151 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611216 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18026 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030894 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030894 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619151 LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611216 LEXMATCH -MONDO:0030895 nephrotic syndrome, type 22 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619155 LEXMATCH -MONDO:0030895 nephrotic syndrome, type 22 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16428 LEXMATCH -MONDO:0030895 nephrotic syndrome, type 22 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619155 LEXMATCH -MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619148 LEXMATCH -MONDO:0030896 chromosome 13q33-q34 deletion syndrome skos:closeMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619148 LEXMATCH -MONDO:0030897 Lessel-Kreienkamp syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619149 LEXMATCH -MONDO:0030897 Lessel-Kreienkamp syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18538 LEXMATCH -MONDO:0030897 Lessel-Kreienkamp syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619149 LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:closeMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619164 LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:closeMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647804 LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:closeMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030898 LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:closeMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030898 LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:closeMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619164 LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:closeMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647804 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619165 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597733 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18017 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030899 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030899 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619165 LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597733 LEXMATCH -MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619170 LEXMATCH -MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16431 LEXMATCH -MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619170 LEXMATCH -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 LEXMATCH -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18339 LEXMATCH -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619172 LEXMATCH -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 LEXMATCH -MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619172 LEXMATCH -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619174 LEXMATCH -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22665 LEXMATCH -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619174 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435938 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030908 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300998 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459070 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030908 LEXMATCH -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300998 LEXMATCH -MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442835 LEXMATCH -MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15282 LEXMATCH -MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030909 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617635 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502434 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17935 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030912 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030912 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617635 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502434 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617751 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500159 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17924 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030913 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030913 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617751 LEXMATCH -MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500159 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617752 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931130 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600731 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9994 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617752 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030914 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030914 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617752 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600731 LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617752 LEXMATCH -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617796 LEXMATCH -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16472 LEXMATCH -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617796 LEXMATCH -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617796 LEXMATCH -MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617796 LEXMATCH -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617798 LEXMATCH -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16473 LEXMATCH -MONDO:0030919 intellectual disability, autosomal dominant 53 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617798 LEXMATCH -MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617799 LEXMATCH -MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16474 LEXMATCH -MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617799 LEXMATCH -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617831 LEXMATCH -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442835 LEXMATCH -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16260 LEXMATCH -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030921 LEXMATCH -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617831 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13524 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617854 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442835 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:13524 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030922 LEXMATCH -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617854 LEXMATCH -MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 LEXMATCH -MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18448 LEXMATCH -MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619175 LEXMATCH -MONDO:0030925 oocyte maturation defect 10 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619176 LEXMATCH -MONDO:0030925 oocyte maturation defect 10 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18500 LEXMATCH -MONDO:0030925 oocyte maturation defect 10 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619176 LEXMATCH -MONDO:0030926 spermatogenic failure 51 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619177 LEXMATCH -MONDO:0030926 spermatogenic failure 51 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619177 LEXMATCH -MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619179 LEXMATCH -MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16432 LEXMATCH -MONDO:0030928 microcephaly 26, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619179 LEXMATCH -MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619180 LEXMATCH -MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16433 LEXMATCH -MONDO:0030929 microcephaly 27, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619180 LEXMATCH -MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619157 LEXMATCH -MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18539 LEXMATCH -MONDO:0030930 neurodevelopmental disorder with or without early-onset generalized epilepsy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619157 LEXMATCH -MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619183 LEXMATCH -MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18449 LEXMATCH -MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619183 LEXMATCH -MONDO:0030933 Joubert syndrome 37 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619185 LEXMATCH -MONDO:0030933 Joubert syndrome 37 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16434 LEXMATCH -MONDO:0030933 Joubert syndrome 37 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619185 LEXMATCH -MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619188 LEXMATCH -MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16478 LEXMATCH -MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619188 LEXMATCH -MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619166 LEXMATCH -MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16429 LEXMATCH -MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619166 LEXMATCH -MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619167 LEXMATCH -MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16430 LEXMATCH -MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619167 LEXMATCH -MONDO:0030938 spermatogenic failure 52 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619202 LEXMATCH -MONDO:0030938 spermatogenic failure 52 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16436 LEXMATCH -MONDO:0030938 spermatogenic failure 52 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619202 LEXMATCH -MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619209 LEXMATCH -MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18674 LEXMATCH -MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619209 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619173 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:610573 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18023 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0030947 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0030947 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619173 LEXMATCH -MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:closeMatch Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:610573 LEXMATCH -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619913 LEXMATCH -MONDO:0030957 developmental and epileptic encephalopathy 103 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619913 LEXMATCH -MONDO:0030961 Olmsted syndrome 2 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619208 LEXMATCH -MONDO:0030961 Olmsted syndrome 2 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16437 LEXMATCH -MONDO:0030961 Olmsted syndrome 2 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619208 LEXMATCH -MONDO:0030962 nephrotic syndrome, type 23 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619201 LEXMATCH -MONDO:0030962 nephrotic syndrome, type 23 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16435 LEXMATCH -MONDO:0030962 nephrotic syndrome, type 23 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619201 LEXMATCH -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619931 LEXMATCH -MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619931 LEXMATCH -MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619220 LEXMATCH -MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619220 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 LEXMATCH -MONDO:0030972 spermatogenic failure 74 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619937 LEXMATCH -MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619224 LEXMATCH -MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16438 LEXMATCH -MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619224 LEXMATCH -MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 LEXMATCH -MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619938 LEXMATCH -MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 LEXMATCH -MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18444 LEXMATCH -MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619216 LEXMATCH -MONDO:0030978 endove syndrome, limb-only type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619217 LEXMATCH -MONDO:0030978 endove syndrome, limb-only type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18560 LEXMATCH -MONDO:0030978 endove syndrome, limb-only type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619217 LEXMATCH -MONDO:0030979 endove syndrome, limb-brain type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619218 LEXMATCH -MONDO:0030979 endove syndrome, limb-brain type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18561 LEXMATCH -MONDO:0030979 endove syndrome, limb-brain type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619218 LEXMATCH -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619947 LEXMATCH -MONDO:0030983 Waardenburg syndrome, IIa 2F skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619947 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619949 LEXMATCH -MONDO:0030984 spermatogenic failure 75 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619949 LEXMATCH -MONDO:0030989 spermatogenic failure 53 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619258 LEXMATCH -MONDO:0030989 spermatogenic failure 53 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619258 LEXMATCH -MONDO:0030991 bile acid conjugation defect 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619232 LEXMATCH -MONDO:0030991 bile acid conjugation defect 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619232 LEXMATCH -MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619239 LEXMATCH -MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18540 LEXMATCH -MONDO:0030994 neurodevelopmental disorder with or without autism or seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619239 LEXMATCH -MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619243 LEXMATCH -MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18541 LEXMATCH -MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619243 LEXMATCH -MONDO:0030996 bleeding disorder, platelet-type, 24 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619271 LEXMATCH -MONDO:0030996 bleeding disorder, platelet-type, 24 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18273 LEXMATCH -MONDO:0030996 bleeding disorder, platelet-type, 24 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619271 LEXMATCH -MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619272 LEXMATCH -MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16440 LEXMATCH -MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619272 LEXMATCH -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 LEXMATCH -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18158 LEXMATCH -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619274 LEXMATCH -MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619244 LEXMATCH -MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18542 LEXMATCH -MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619244 LEXMATCH -MONDO:0031002 Baralle-Macken syndrome skos:closeMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619255 LEXMATCH -MONDO:0031002 Baralle-Macken syndrome skos:closeMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619255 LEXMATCH -MONDO:0031003 hypercholanemia, familial, 2 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619256 LEXMATCH -MONDO:0031003 hypercholanemia, familial, 2 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18341 LEXMATCH -MONDO:0031003 hypercholanemia, familial, 2 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619256 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619260 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611207 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18025 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031007 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031007 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619260 LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611207 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619263 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567548 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18003 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031008 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031008 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619263 LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567548 LEXMATCH -MONDO:0031009 Glanzmann thrombasthenia 2 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619267 LEXMATCH -MONDO:0031009 Glanzmann thrombasthenia 2 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16439 LEXMATCH -MONDO:0031009 Glanzmann thrombasthenia 2 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619267 LEXMATCH -MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619264 LEXMATCH -MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18543 LEXMATCH -MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619264 LEXMATCH -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619970 LEXMATCH -MONDO:0031021 developmental and epileptic encephalopathy 104 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619970 LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931263 LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:221061 LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13641 LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031037 LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031037 LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:221061 LEXMATCH -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620010 LEXMATCH -MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620010 LEXMATCH -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620015 LEXMATCH -MONDO:0031044 advance sleep phase syndrome, familial, 4 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620015 LEXMATCH -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620019 LEXMATCH -MONDO:0031045 arthrogryposis, distal, IIa 11 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620019 LEXMATCH -MONDO:0031047 stickler syndrome, IIa 6 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620022 LEXMATCH -MONDO:0031047 stickler syndrome, IIa 6 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620022 LEXMATCH -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620032 LEXMATCH -MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620032 LEXMATCH -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620033 LEXMATCH -MONDO:0031055 developmental and epileptic encephalopathy 107 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620033 LEXMATCH -MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620040 LEXMATCH -MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620040 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620056 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620056 LEXMATCH -MONDO:0031071 Diamond-Blackfan anemia 21 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620072 LEXMATCH -MONDO:0031071 Diamond-Blackfan anemia 21 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620072 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620084 LEXMATCH -MONDO:0031077 spermatogenic failure 76 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620084 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620103 LEXMATCH -MONDO:0031083 spermatogenic failure 77 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620103 LEXMATCH -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620104 LEXMATCH -MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620104 LEXMATCH -MONDO:0031257 high altitude pulmonary edema skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:330012 LEXMATCH -MONDO:0031257 high altitude pulmonary edema skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21502 LEXMATCH -MONDO:0031257 high altitude pulmonary edema skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031257 LEXMATCH -MONDO:0031257 high altitude pulmonary edema skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031257 LEXMATCH -MONDO:0031257 high altitude pulmonary edema skos:closeMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:330012 LEXMATCH -MONDO:0031322 triopia skos:closeMatch Orphanet:3374 Unilateral ocular duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3374 LEXMATCH -MONDO:0031322 triopia skos:closeMatch Orphanet:3374 Unilateral ocular duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5286 LEXMATCH -MONDO:0031322 triopia skos:closeMatch Orphanet:3374 Unilateral ocular duplication semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031322 LEXMATCH -MONDO:0031322 triopia skos:closeMatch Orphanet:3374 Unilateral ocular duplication semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031322 LEXMATCH -MONDO:0031322 triopia skos:closeMatch Orphanet:3374 Unilateral ocular duplication semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3374 LEXMATCH -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273800 LEXMATCH -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15240 LEXMATCH -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273800 LEXMATCH -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1358 LEXMATCH -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3889 LEXMATCH -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031415 LEXMATCH -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031415 LEXMATCH -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1358 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609071 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:659 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4075 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031421 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031421 LEXMATCH -MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:659 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607748 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843139 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:238475 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18340 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17173 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031446 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031446 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607748 LEXMATCH -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:238475 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614231 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306558 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18438 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17381 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0031481 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0031481 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614231 LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306558 LEXMATCH -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618009 LEXMATCH -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18514 LEXMATCH -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618009 LEXMATCH -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618009 LEXMATCH -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618009 LEXMATCH -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631103 LEXMATCH -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032526 LEXMATCH -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032526 LEXMATCH -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631103 LEXMATCH -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618154 LEXMATCH -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16296 LEXMATCH -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618154 LEXMATCH -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618157 LEXMATCH -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618157 LEXMATCH -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618157 LEXMATCH -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618157 LEXMATCH -MONDO:0032569 isolated growth hormone deficiency, type 5 skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618160 LEXMATCH -MONDO:0032569 isolated growth hormone deficiency, type 5 skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618160 LEXMATCH -MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618161 LEXMATCH -MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16297 LEXMATCH -MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618161 LEXMATCH -MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618161 LEXMATCH -MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618161 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16298 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618173 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618173 LEXMATCH -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618173 LEXMATCH -MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618176 LEXMATCH -MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16299 LEXMATCH -MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618176 LEXMATCH -MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618176 LEXMATCH -MONDO:0032580 nephrotic syndrome, type 17 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618176 LEXMATCH -MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618177 LEXMATCH -MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16300 LEXMATCH -MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618177 LEXMATCH -MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618177 LEXMATCH -MONDO:0032581 nephrotic syndrome, type 18 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618177 LEXMATCH -MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618178 LEXMATCH -MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16301 LEXMATCH -MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618178 LEXMATCH -MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618178 LEXMATCH -MONDO:0032582 nephrotic syndrome, type 19 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618178 LEXMATCH -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618179 LEXMATCH -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16302 LEXMATCH -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618179 LEXMATCH -MONDO:0032583 microcephaly 24, primary, autosomal recessive skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16302 LEXMATCH -MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618183 LEXMATCH -MONDO:0032586 diarrhea 10, protein-losing enteropathy type skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618183 LEXMATCH -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618185 LEXMATCH -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16303 LEXMATCH -MONDO:0032588 periventricular nodular heterotopia 8 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618185 LEXMATCH -MONDO:0032591 hyperparathyroidism, transient neonatal skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618188 LEXMATCH -MONDO:0032591 hyperparathyroidism, transient neonatal skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16304 LEXMATCH -MONDO:0032591 hyperparathyroidism, transient neonatal skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618188 LEXMATCH -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 LEXMATCH -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16305 LEXMATCH -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618189 LEXMATCH -MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618195 LEXMATCH -MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16306 LEXMATCH -MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618195 LEXMATCH -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618197 LEXMATCH -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16308 LEXMATCH -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618197 LEXMATCH -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618197 LEXMATCH -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618197 LEXMATCH -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618198 LEXMATCH -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16309 LEXMATCH -MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618198 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16310 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618201 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618201 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618201 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18469 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618204 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618204 LEXMATCH -MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618204 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618205 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599082 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13806 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032600 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032600 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618205 LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599082 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618213 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565788 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18000 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032601 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032601 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618213 LEXMATCH -MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565788 LEXMATCH -MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618219 LEXMATCH -MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18177 LEXMATCH -MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618219 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16311 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618220 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618220 LEXMATCH -MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618220 LEXMATCH -MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 LEXMATCH -MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22579 LEXMATCH -MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618221 LEXMATCH -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 LEXMATCH -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16312 LEXMATCH -MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618222 LEXMATCH -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 LEXMATCH -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16313 LEXMATCH -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618224 LEXMATCH -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 LEXMATCH -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16314 LEXMATCH -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618225 LEXMATCH -MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 LEXMATCH -MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16315 LEXMATCH -MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618226 LEXMATCH -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 LEXMATCH -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16316 LEXMATCH -MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618228 LEXMATCH -MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 LEXMATCH -MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16317 LEXMATCH -MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618229 LEXMATCH -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 LEXMATCH -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16318 LEXMATCH -MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618230 LEXMATCH -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618231 LEXMATCH -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618231 LEXMATCH -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618231 LEXMATCH -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618231 LEXMATCH -MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618232 LEXMATCH -MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16319 LEXMATCH -MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618232 LEXMATCH -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 LEXMATCH -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16320 LEXMATCH -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618233 LEXMATCH -MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618234 LEXMATCH -MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16321 LEXMATCH -MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618234 LEXMATCH -MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618236 LEXMATCH -MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16322 LEXMATCH -MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618236 LEXMATCH -MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618237 LEXMATCH -MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16323 LEXMATCH -MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618237 LEXMATCH -MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618238 LEXMATCH -MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16324 LEXMATCH -MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618238 LEXMATCH -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 LEXMATCH -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16325 LEXMATCH -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618240 LEXMATCH -MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618241 LEXMATCH -MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16326 LEXMATCH -MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618241 LEXMATCH -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618242 LEXMATCH -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16327 LEXMATCH -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618242 LEXMATCH -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618242 LEXMATCH -MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618242 LEXMATCH -MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618245 LEXMATCH -MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16328 LEXMATCH -MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618245 LEXMATCH -MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618246 LEXMATCH -MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16329 LEXMATCH -MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618246 LEXMATCH -MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618250 LEXMATCH -MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16330 LEXMATCH -MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618250 LEXMATCH -MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618251 LEXMATCH -MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16331 LEXMATCH -MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618251 LEXMATCH -MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618253 LEXMATCH -MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16332 LEXMATCH -MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618253 LEXMATCH -MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618254 LEXMATCH -MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618254 LEXMATCH -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618257 LEXMATCH -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18377 LEXMATCH -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618257 LEXMATCH -MONDO:0032641 mirror movements 4 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618264 LEXMATCH -MONDO:0032641 mirror movements 4 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16333 LEXMATCH -MONDO:0032641 mirror movements 4 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618264 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565858 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18001 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032642 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032642 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618265 LEXMATCH -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565858 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618266 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611256 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18030 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032643 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032643 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618266 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611256 LEXMATCH -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 LEXMATCH -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16334 LEXMATCH -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618267 LEXMATCH -MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618275 LEXMATCH -MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16335 LEXMATCH -MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618275 LEXMATCH -MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618275 LEXMATCH -MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618275 LEXMATCH -MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618278 LEXMATCH -MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618278 LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618280 LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647811 LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032653 LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032653 LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618280 LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647811 LEXMATCH -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618292 LEXMATCH -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18515 LEXMATCH -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618292 LEXMATCH -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618292 LEXMATCH -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618292 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16336 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618298 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618298 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618298 LEXMATCH -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 LEXMATCH -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618307 LEXMATCH -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618309 LEXMATCH -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16337 LEXMATCH -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618309 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16338 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618310 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618310 LEXMATCH -MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618310 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16339 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618312 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618312 LEXMATCH -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618312 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16340 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618313 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618313 LEXMATCH -MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618313 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618316 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562569 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17998 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032672 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032672 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618316 LEXMATCH -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562569 LEXMATCH -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618323 LEXMATCH -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16341 LEXMATCH -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618323 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572013 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18007 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032677 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032677 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618325 LEXMATCH -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572013 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618328 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:557064 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618328 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032678 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032678 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618328 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:557064 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618328 LEXMATCH -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618330 LEXMATCH -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16477 LEXMATCH -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618330 LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18516 LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618342 LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:closeMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618343 LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:closeMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636941 LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:closeMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032688 LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:closeMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032688 LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:closeMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618343 LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:closeMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636941 LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16342 LEXMATCH -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618345 LEXMATCH -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618347 LEXMATCH -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16343 LEXMATCH -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618347 LEXMATCH -MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618348 LEXMATCH -MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16344 LEXMATCH -MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618348 LEXMATCH -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618349 LEXMATCH -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16345 LEXMATCH -MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618349 LEXMATCH -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618351 LEXMATCH -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16346 LEXMATCH -MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618351 LEXMATCH -MONDO:0032696 oocyte maturation defect 6 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618353 LEXMATCH -MONDO:0032696 oocyte maturation defect 6 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618353 LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16347 LEXMATCH -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618362 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618367 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597874 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18018 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032705 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032705 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618367 LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597874 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618381 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:598603 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18019 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032714 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032714 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618381 LEXMATCH -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:598603 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618384 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615964 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18035 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032716 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032716 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618384 LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615964 LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618395 LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642085 LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032724 LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032724 LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618395 LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642085 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16349 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618396 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618396 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618396 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618397 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565624 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17999 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618397 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032726 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032726 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618397 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565624 LEXMATCH -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618397 LEXMATCH -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 LEXMATCH -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22580 LEXMATCH -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618402 LEXMATCH -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618402 LEXMATCH -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618402 LEXMATCH -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 LEXMATCH -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18152 LEXMATCH -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618410 LEXMATCH -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 LEXMATCH -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18152 LEXMATCH -MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618410 LEXMATCH -MONDO:0032735 cataract 48 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618415 LEXMATCH -MONDO:0032735 cataract 48 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16350 LEXMATCH -MONDO:0032735 cataract 48 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618415 LEXMATCH -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch Orphanet:631068 Autosomal dominant spastic paraplegia type 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631068 LEXMATCH -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch Orphanet:631068 Autosomal dominant spastic paraplegia type 80 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032737 LEXMATCH -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch Orphanet:631068 Autosomal dominant spastic paraplegia type 80 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032737 LEXMATCH -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch Orphanet:631068 Autosomal dominant spastic paraplegia type 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631068 LEXMATCH -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618422 LEXMATCH -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22660 LEXMATCH -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618422 LEXMATCH -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618422 LEXMATCH -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618422 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18408 LEXMATCH -MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618429 LEXMATCH -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618430 LEXMATCH -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18517 LEXMATCH -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618430 LEXMATCH -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618431 LEXMATCH -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18367 LEXMATCH -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618431 LEXMATCH -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618432 LEXMATCH -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18368 LEXMATCH -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618432 LEXMATCH -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618432 LEXMATCH -MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618432 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18409 LEXMATCH -MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618433 LEXMATCH -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618434 LEXMATCH -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22661 LEXMATCH -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618434 LEXMATCH -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618434 LEXMATCH -MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618434 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16351 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16351 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 LEXMATCH -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618435 LEXMATCH -MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 LEXMATCH -MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618436 LEXMATCH -MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 LEXMATCH -MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618436 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16352 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618437 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618437 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618437 LEXMATCH -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 LEXMATCH -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618447 LEXMATCH -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 LEXMATCH -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618447 LEXMATCH -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 LEXMATCH -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16353 LEXMATCH -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618449 LEXMATCH -MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618456 LEXMATCH -MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22662 LEXMATCH -MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618456 LEXMATCH -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 LEXMATCH -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein a-i deficiency LEXMATCH -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618463 LEXMATCH -MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618464 LEXMATCH -MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16354 LEXMATCH -MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618464 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16355 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618468 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618468 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618468 LEXMATCH -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618470 LEXMATCH -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18518 LEXMATCH -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618470 LEXMATCH -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618470 LEXMATCH -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618470 LEXMATCH -MONDO:0032771 paragangliomas 7 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618475 LEXMATCH -MONDO:0032771 paragangliomas 7 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16356 LEXMATCH -MONDO:0032771 paragangliomas 7 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618475 LEXMATCH -MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618476 LEXMATCH -MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618476 LEXMATCH -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618481 LEXMATCH -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22663 LEXMATCH -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618481 LEXMATCH -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618481 LEXMATCH -MONDO:0032776 hearing loss, autosomal recessive 99 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618481 LEXMATCH -MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618482 LEXMATCH -MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18671 LEXMATCH -MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618482 LEXMATCH -MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618482 LEXMATCH -MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618482 LEXMATCH -MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618484 LEXMATCH -MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618484 LEXMATCH -MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618484 LEXMATCH -MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618484 LEXMATCH -MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618498 LEXMATCH -MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18178 LEXMATCH -MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618498 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618499 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16357 LEXMATCH -MONDO:0032786 Noonan syndrome 11 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618499 LEXMATCH -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 LEXMATCH -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618500 LEXMATCH -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618500 LEXMATCH -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618500 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16358 LEXMATCH -MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618506 LEXMATCH -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618513 LEXMATCH -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16359 LEXMATCH -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618513 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 LEXMATCH -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618529 LEXMATCH -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 LEXMATCH -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18672 LEXMATCH -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618531 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618534 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16360 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618534 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618534 LEXMATCH -MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618534 LEXMATCH -MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618535 LEXMATCH -MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16361 LEXMATCH -MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618535 LEXMATCH -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 LEXMATCH -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16362 LEXMATCH -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618546 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16363 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618548 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618548 LEXMATCH -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618548 LEXMATCH -MONDO:0032811 night blindness, congenital stationary, type1i skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618555 LEXMATCH -MONDO:0032811 night blindness, congenital stationary, type1i skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16364 LEXMATCH -MONDO:0032811 night blindness, congenital stationary, type1i skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618555 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16365 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618557 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618557 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618557 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16366 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618559 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618559 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618559 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:477749 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032814 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032814 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618564 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:477749 LEXMATCH -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618569 LEXMATCH -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18519 LEXMATCH -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618569 LEXMATCH -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618569 LEXMATCH -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618569 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99832 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16914 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032819 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032819 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618573 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99832 LEXMATCH -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618587 LEXMATCH -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16367 LEXMATCH -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618587 LEXMATCH -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618587 LEXMATCH -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618587 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:613267 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18031 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032831 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032831 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618606 LEXMATCH -MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:613267 LEXMATCH -MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618612 LEXMATCH -MONDO:0032833 lower urinary tract obstruction, congenital skos:closeMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618612 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618613 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16368 LEXMATCH -MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618613 LEXMATCH -MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16369 LEXMATCH -MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618624 LEXMATCH -MONDO:0032841 Usher syndrome, type 1M skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618632 LEXMATCH -MONDO:0032841 Usher syndrome, type 1M skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16370 LEXMATCH -MONDO:0032841 Usher syndrome, type 1M skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618632 LEXMATCH -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618641 LEXMATCH -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16483 LEXMATCH -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618641 LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618643 LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18410 LEXMATCH -MONDO:0032845 spermatogenic failure 39 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618643 LEXMATCH -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618653 LEXMATCH -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18520 LEXMATCH -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618653 LEXMATCH -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618653 LEXMATCH -MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618653 LEXMATCH -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618658 LEXMATCH -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16371 LEXMATCH -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618658 LEXMATCH -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618658 LEXMATCH -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618658 LEXMATCH -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618659 LEXMATCH -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18521 LEXMATCH -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618659 LEXMATCH -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618659 LEXMATCH -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618659 LEXMATCH -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618662 LEXMATCH -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618662 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18411 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618664 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618664 LEXMATCH -MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618664 LEXMATCH -MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18090 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18412 LEXMATCH -MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618670 LEXMATCH -MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618683 LEXMATCH -MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18673 LEXMATCH -MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618683 LEXMATCH -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618687 LEXMATCH -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22581 LEXMATCH -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618687 LEXMATCH -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 LEXMATCH -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16373 LEXMATCH -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618695 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618697 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16374 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618697 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618697 LEXMATCH -MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618697 LEXMATCH -MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618723 LEXMATCH -MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18044 LEXMATCH -MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618723 LEXMATCH -MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618723 LEXMATCH -MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618723 LEXMATCH -MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:closeMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, isidor-toutain type LEXMATCH -MONDO:0032886 Liang-Wang syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618729 LEXMATCH -MONDO:0032886 Liang-Wang syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618729 LEXMATCH -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618734 LEXMATCH -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18330 LEXMATCH -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618734 LEXMATCH -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618734 LEXMATCH -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618734 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18413 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618745 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618745 LEXMATCH -MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618745 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18414 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618751 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618751 LEXMATCH -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618751 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16375 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618752 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618752 LEXMATCH -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618752 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16376 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618763 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618763 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618763 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 LEXMATCH -MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618763 LEXMATCH -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 LEXMATCH -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618767 LEXMATCH -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618767 LEXMATCH -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618767 LEXMATCH -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 LEXMATCH -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618768 LEXMATCH -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618768 LEXMATCH -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618768 LEXMATCH -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch Orphanet:631073 Autosomal recessive spastic paraplegia type 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631073 LEXMATCH -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch Orphanet:631073 Autosomal recessive spastic paraplegia type 82 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032906 LEXMATCH -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch Orphanet:631073 Autosomal recessive spastic paraplegia type 82 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032906 LEXMATCH -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch Orphanet:631073 Autosomal recessive spastic paraplegia type 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631073 LEXMATCH -MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618775 LEXMATCH -MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16377 LEXMATCH -MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618775 LEXMATCH -MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618775 LEXMATCH -MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618775 LEXMATCH -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 LEXMATCH -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16378 LEXMATCH -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618776 LEXMATCH -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618776 LEXMATCH -MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618776 LEXMATCH -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 LEXMATCH -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18153 LEXMATCH -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618778 LEXMATCH -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618778 LEXMATCH -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618778 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16379 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618779 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618779 LEXMATCH -MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618779 LEXMATCH -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618780 LEXMATCH -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618780 LEXMATCH -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618780 LEXMATCH -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618780 LEXMATCH -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 LEXMATCH -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16380 LEXMATCH -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618781 LEXMATCH -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618781 LEXMATCH -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618781 LEXMATCH -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618786 LEXMATCH -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16381 LEXMATCH -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618786 LEXMATCH -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618786 LEXMATCH -MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618786 LEXMATCH -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 LEXMATCH -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18154 LEXMATCH -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618787 LEXMATCH -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618787 LEXMATCH -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618787 LEXMATCH -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618795 LEXMATCH -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16382 LEXMATCH -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618795 LEXMATCH -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618795 LEXMATCH -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618795 LEXMATCH -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 LEXMATCH -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16383 LEXMATCH -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618801 LEXMATCH -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618801 LEXMATCH -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618801 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618806 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618806 LEXMATCH -MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618806 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615954 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18034 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0032931 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0032931 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618810 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615954 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618810 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618810 LEXMATCH -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618824 LEXMATCH -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16384 LEXMATCH -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618824 LEXMATCH -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618824 LEXMATCH -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618824 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16385 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618826 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618826 LEXMATCH -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618826 LEXMATCH -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263200 LEXMATCH -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 LEXMATCH -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:731 LEXMATCH -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:6168 LEXMATCH -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033004 LEXMATCH -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:263200 LEXMATCH -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251300 LEXMATCH -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15199 LEXMATCH -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome LEXMATCH -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome LEXMATCH -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251300 LEXMATCH -MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301006 LEXMATCH -MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15281 LEXMATCH -MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301006 LEXMATCH -MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617729 LEXMATCH -MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16247 LEXMATCH -MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617729 LEXMATCH -MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617730 LEXMATCH -MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16248 LEXMATCH -MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617730 LEXMATCH -MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617731 LEXMATCH -MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16249 LEXMATCH -MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617731 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133200 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133200 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disease LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033010 LEXMATCH -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:133200 LEXMATCH -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617524 LEXMATCH -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18588 LEXMATCH -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617524 LEXMATCH -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617525 LEXMATCH -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18589 LEXMATCH -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617525 LEXMATCH -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 LEXMATCH -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18590 LEXMATCH -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617526 LEXMATCH -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617756 LEXMATCH -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18669 LEXMATCH -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617756 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617560 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:527497 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17964 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033043 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033043 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617560 LEXMATCH -MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:527497 LEXMATCH -MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617562 LEXMATCH -MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16236 LEXMATCH -MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617562 LEXMATCH -MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617565 LEXMATCH -MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16237 LEXMATCH -MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617565 LEXMATCH -MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617565 LEXMATCH -MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617565 LEXMATCH -MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617571 LEXMATCH -MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313 LEXMATCH -MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16471 LEXMATCH -MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033091 LEXMATCH -MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617571 LEXMATCH -MONDO:0033123 exudative vitreoretinopathy 7 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617572 LEXMATCH -MONDO:0033123 exudative vitreoretinopathy 7 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16238 LEXMATCH -MONDO:0033123 exudative vitreoretinopathy 7 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617572 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618279 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476394 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17851 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033135 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033135 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618279 LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476394 LEXMATCH -MONDO:0033169 curariform drugs toxicity skos:closeMatch Orphanet:413693 Prediction of curariform drugs toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033169 LEXMATCH -MONDO:0033169 curariform drugs toxicity skos:closeMatch Orphanet:413693 Prediction of curariform drugs toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033169 LEXMATCH -MONDO:0033170 statin toxicity skos:closeMatch Orphanet:413696 Prediction of statin toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033170 LEXMATCH -MONDO:0033170 statin toxicity skos:closeMatch Orphanet:413696 Prediction of statin toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033170 LEXMATCH -MONDO:0033181 phenytoin or carbamazepine toxicity skos:closeMatch Orphanet:414750 Prediction of phenytoin or carbamazepine toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033181 LEXMATCH -MONDO:0033181 phenytoin or carbamazepine toxicity skos:closeMatch Orphanet:414750 Prediction of phenytoin or carbamazepine toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033181 LEXMATCH -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617637 LEXMATCH -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22656 LEXMATCH -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617637 LEXMATCH -MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617639 LEXMATCH -MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22657 LEXMATCH -MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617639 LEXMATCH -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617654 LEXMATCH -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22658 LEXMATCH -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617654 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617575 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506334 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13818 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial steroid-resistant nephrotic syndrome with adrenal insufficiency LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033203 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033203 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617575 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506334 LEXMATCH -MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617577 LEXMATCH -MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16239 LEXMATCH -MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617577 LEXMATCH -MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617605 LEXMATCH -MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18147 LEXMATCH -MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617605 LEXMATCH -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617606 LEXMATCH -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18148 LEXMATCH -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617606 LEXMATCH -MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617663 LEXMATCH -MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18149 LEXMATCH -MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617663 LEXMATCH -MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617610 LEXMATCH -MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:731 LEXMATCH -MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16242 LEXMATCH -MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033281 LEXMATCH -MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617610 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617613 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569274 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22305 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033282 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033282 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617613 LEXMATCH -MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569274 LEXMATCH -MONDO:0033308 Joubert syndrome 30 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617622 LEXMATCH -MONDO:0033308 Joubert syndrome 30 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16243 LEXMATCH -MONDO:0033308 Joubert syndrome 30 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617622 LEXMATCH -MONDO:0033309 Joubert syndrome 32 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617757 LEXMATCH -MONDO:0033309 Joubert syndrome 32 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617757 LEXMATCH -MONDO:0033310 Joubert syndrome 31 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617761 LEXMATCH -MONDO:0033310 Joubert syndrome 31 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16251 LEXMATCH -MONDO:0033310 Joubert syndrome 31 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617761 LEXMATCH -MONDO:0033311 Joubert syndrome 33 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617767 LEXMATCH -MONDO:0033311 Joubert syndrome 33 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617767 LEXMATCH -MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617350 LEXMATCH -MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16223 LEXMATCH -MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617350 LEXMATCH -MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617350 LEXMATCH -MONDO:0033361 developmental and epileptic encephalopathy, 52 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617350 LEXMATCH -MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617389 LEXMATCH -MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16224 LEXMATCH -MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617389 LEXMATCH -MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617389 LEXMATCH -MONDO:0033362 developmental and epileptic encephalopathy, 53 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617389 LEXMATCH -MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617391 LEXMATCH -MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16225 LEXMATCH -MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617391 LEXMATCH -MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617391 LEXMATCH -MONDO:0033363 developmental and epileptic encephalopathy, 54 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617391 LEXMATCH -MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617599 LEXMATCH -MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16241 LEXMATCH -MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617599 LEXMATCH -MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617599 LEXMATCH -MONDO:0033364 developmental and epileptic encephalopathy, 55 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617599 LEXMATCH -MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617665 LEXMATCH -MONDO:0033365 developmental and epileptic encephalopathy, 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617665 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617830 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442835 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16259 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617830 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033367 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617830 LEXMATCH -MONDO:0033367 developmental and epileptic encephalopathy, 58 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617830 LEXMATCH -MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617904 LEXMATCH -MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617904 LEXMATCH -MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617904 LEXMATCH -MONDO:0033368 developmental and epileptic encephalopathy, 59 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617904 LEXMATCH -MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617929 LEXMATCH -MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16270 LEXMATCH -MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617929 LEXMATCH -MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617929 LEXMATCH -MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617929 LEXMATCH -MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617938 LEXMATCH -MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16271 LEXMATCH -MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617938 LEXMATCH -MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617938 LEXMATCH -MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617938 LEXMATCH -MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618008 LEXMATCH -MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16283 LEXMATCH -MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618008 LEXMATCH -MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618008 LEXMATCH -MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618008 LEXMATCH -MONDO:0033479 spinocerebellar ataxia 44 skos:closeMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631095 LEXMATCH -MONDO:0033479 spinocerebellar ataxia 44 skos:closeMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033479 LEXMATCH -MONDO:0033479 spinocerebellar ataxia 44 skos:closeMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033479 LEXMATCH -MONDO:0033479 spinocerebellar ataxia 44 skos:closeMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631095 LEXMATCH -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589527 LEXMATCH -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22353 LEXMATCH -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033480 LEXMATCH -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033480 LEXMATCH -MONDO:0033480 spinocerebellar ataxia 45 skos:closeMatch Orphanet:589527 Spinocerebellar ataxia type 45 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589527 LEXMATCH -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589522 LEXMATCH -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22352 LEXMATCH -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033481 LEXMATCH -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033481 LEXMATCH -MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch Orphanet:589522 Spinocerebellar ataxia type 46 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589522 LEXMATCH -MONDO:0033482 spinocerebellar ataxia 47 skos:closeMatch Orphanet:642747 PUM1-related cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642747 LEXMATCH -MONDO:0033482 spinocerebellar ataxia 47 skos:closeMatch Orphanet:642747 PUM1-related cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033482 LEXMATCH -MONDO:0033482 spinocerebellar ataxia 47 skos:closeMatch Orphanet:642747 PUM1-related cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033482 LEXMATCH -MONDO:0033482 spinocerebellar ataxia 47 skos:closeMatch Orphanet:642747 PUM1-related cerebellar ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642747 LEXMATCH -MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617899 LEXMATCH -MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16266 LEXMATCH -MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617899 LEXMATCH -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617808 LEXMATCH -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1465 LEXMATCH -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16254 LEXMATCH -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033492 LEXMATCH -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617808 LEXMATCH -MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617626 LEXMATCH -MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18357 LEXMATCH -MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617626 LEXMATCH -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618971 LEXMATCH -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18525 LEXMATCH -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618971 LEXMATCH -MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 LEXMATCH -MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18370 LEXMATCH -MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618972 LEXMATCH -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618974 LEXMATCH -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18526 LEXMATCH -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618974 LEXMATCH -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618974 LEXMATCH -MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618974 LEXMATCH -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618975 LEXMATCH -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618975 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16399 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618977 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618977 LEXMATCH -MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618977 LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618987 LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18300 LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618987 LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618987 LEXMATCH -MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618987 LEXMATCH -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 LEXMATCH -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618992 LEXMATCH -MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618998 LEXMATCH -MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16400 LEXMATCH -MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618998 LEXMATCH -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619000 LEXMATCH -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18527 LEXMATCH -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619000 LEXMATCH -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619000 LEXMATCH -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619000 LEXMATCH -MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 LEXMATCH -MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16401 LEXMATCH -MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619003 LEXMATCH -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619005 LEXMATCH -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18528 LEXMATCH -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619005 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619007 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619007 LEXMATCH -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619007 LEXMATCH -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619009 LEXMATCH -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18498 LEXMATCH -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619009 LEXMATCH -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619011 LEXMATCH -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18499 LEXMATCH -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619011 LEXMATCH -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619031 LEXMATCH -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18529 LEXMATCH -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619031 LEXMATCH -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:closeMatch Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033613 LEXMATCH -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:closeMatch Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033613 LEXMATCH -MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch Orphanet:631076 Autosomal recessive spastic paraplegia type 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631076 LEXMATCH -MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch Orphanet:631076 Autosomal recessive spastic paraplegia type 83 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033614 LEXMATCH -MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch Orphanet:631076 Autosomal recessive spastic paraplegia type 83 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033614 LEXMATCH -MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch Orphanet:631076 Autosomal recessive spastic paraplegia type 83 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631076 LEXMATCH -MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619028 LEXMATCH -MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16403 LEXMATCH -MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619028 LEXMATCH -MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619028 LEXMATCH -MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619028 LEXMATCH -MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619044 LEXMATCH -MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619044 LEXMATCH -MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619044 LEXMATCH -MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619044 LEXMATCH -MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619056 LEXMATCH -MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18530 LEXMATCH -MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619056 LEXMATCH -MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619046 LEXMATCH -MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16404 LEXMATCH -MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619046 LEXMATCH -MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619046 LEXMATCH -MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619046 LEXMATCH -MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619048 LEXMATCH -MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16405 LEXMATCH -MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619048 LEXMATCH -MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619048 LEXMATCH -MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619048 LEXMATCH -MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619051 LEXMATCH -MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16406 LEXMATCH -MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619051 LEXMATCH -MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619051 LEXMATCH -MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619051 LEXMATCH -MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619052 LEXMATCH -MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16407 LEXMATCH -MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619052 LEXMATCH -MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619052 LEXMATCH -MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619052 LEXMATCH -MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619053 LEXMATCH -MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16408 LEXMATCH -MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619053 LEXMATCH -MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619053 LEXMATCH -MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619053 LEXMATCH -MONDO:0033640 vitamin D-dependent rickets, type 3 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619073 LEXMATCH -MONDO:0033640 vitamin D-dependent rickets, type 3 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18171 LEXMATCH -MONDO:0033640 vitamin D-dependent rickets, type 3 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619073 LEXMATCH -MONDO:0033640 vitamin D-dependent rickets, type 3 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619073 LEXMATCH -MONDO:0033640 vitamin D-dependent rickets, type 3 skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619073 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619075 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544488 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17987 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033642 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033642 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619075 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:closeMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544488 LEXMATCH -MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619082 LEXMATCH -MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18383 LEXMATCH -MONDO:0033644 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619082 LEXMATCH -MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619054 LEXMATCH -MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16409 LEXMATCH -MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619054 LEXMATCH -MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619054 LEXMATCH -MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619054 LEXMATCH -MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619055 LEXMATCH -MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16410 LEXMATCH -MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619055 LEXMATCH -MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619055 LEXMATCH -MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619055 LEXMATCH -MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619058 LEXMATCH -MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16411 LEXMATCH -MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619058 LEXMATCH -MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619058 LEXMATCH -MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619058 LEXMATCH -MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619059 LEXMATCH -MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16412 LEXMATCH -MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619059 LEXMATCH -MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619059 LEXMATCH -MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619059 LEXMATCH -MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619060 LEXMATCH -MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16413 LEXMATCH -MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619060 LEXMATCH -MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619060 LEXMATCH -MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619060 LEXMATCH -MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619061 LEXMATCH -MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16414 LEXMATCH -MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619061 LEXMATCH -MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619061 LEXMATCH -MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619061 LEXMATCH -MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619062 LEXMATCH -MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16415 LEXMATCH -MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619062 LEXMATCH -MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619062 LEXMATCH -MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619062 LEXMATCH -MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619063 LEXMATCH -MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16416 LEXMATCH -MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619063 LEXMATCH -MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619063 LEXMATCH -MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619063 LEXMATCH -MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619064 LEXMATCH -MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16417 LEXMATCH -MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619064 LEXMATCH -MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619064 LEXMATCH -MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619064 LEXMATCH -MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619065 LEXMATCH -MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16418 LEXMATCH -MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619065 LEXMATCH -MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619065 LEXMATCH -MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619065 LEXMATCH -MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619072 LEXMATCH -MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18531 LEXMATCH -MONDO:0033658 neurodevelopmental disorder with seizures and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619072 LEXMATCH -MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619076 LEXMATCH -MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18532 LEXMATCH -MONDO:0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619076 LEXMATCH -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619081 LEXMATCH -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18156 LEXMATCH -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619081 LEXMATCH -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619081 LEXMATCH -MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619081 LEXMATCH -MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619083 LEXMATCH -MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18533 LEXMATCH -MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619083 LEXMATCH -MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619083 LEXMATCH -MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619083 LEXMATCH -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 LEXMATCH -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18157 LEXMATCH -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619086 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619087 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16419 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619087 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619087 LEXMATCH -MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619087 LEXMATCH -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 LEXMATCH -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22664 LEXMATCH -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619093 LEXMATCH -MONDO:0033671 spermatogenic failure 45 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619094 LEXMATCH -MONDO:0033671 spermatogenic failure 45 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619094 LEXMATCH -MONDO:0033671 spermatogenic failure 45 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619094 LEXMATCH -MONDO:0033671 spermatogenic failure 45 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619094 LEXMATCH -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome skos:closeMatch Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:50817 LEXMATCH -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome skos:closeMatch Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18842 LEXMATCH -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome skos:closeMatch Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033672 LEXMATCH -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome skos:closeMatch Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033672 LEXMATCH -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome skos:closeMatch Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:50817 LEXMATCH -MONDO:0033673 spermatogenic failure 46 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619095 LEXMATCH -MONDO:0033673 spermatogenic failure 46 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619095 LEXMATCH -MONDO:0033673 spermatogenic failure 46 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619095 LEXMATCH -MONDO:0033673 spermatogenic failure 46 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619095 LEXMATCH -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:closeMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508533 LEXMATCH -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:closeMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22070 LEXMATCH -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:closeMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033682 LEXMATCH -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:closeMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033682 LEXMATCH -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:closeMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508533 LEXMATCH -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:closeMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508542 LEXMATCH -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:closeMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22071 LEXMATCH -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:closeMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033683 LEXMATCH -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:closeMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033683 LEXMATCH -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:closeMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508542 LEXMATCH -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:closeMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:512260 LEXMATCH -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:closeMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22075 LEXMATCH -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:closeMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033717 LEXMATCH -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:closeMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033717 LEXMATCH -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:closeMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:512260 LEXMATCH -MONDO:0033809 isolated blepharochalasis skos:closeMatch Orphanet:519390 Isolated blepharochalasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519390 LEXMATCH -MONDO:0033809 isolated blepharochalasis skos:closeMatch Orphanet:519390 Isolated blepharochalasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22124 LEXMATCH -MONDO:0033809 isolated blepharochalasis skos:closeMatch Orphanet:519390 Isolated blepharochalasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033809 LEXMATCH -MONDO:0033809 isolated blepharochalasis skos:closeMatch Orphanet:519390 Isolated blepharochalasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033809 LEXMATCH -MONDO:0033809 isolated blepharochalasis skos:closeMatch Orphanet:519390 Isolated blepharochalasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519390 LEXMATCH -MONDO:0033810 isolated iridoschisis skos:closeMatch Orphanet:519392 Isolated iridoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519392 LEXMATCH -MONDO:0033810 isolated iridoschisis skos:closeMatch Orphanet:519392 Isolated iridoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22125 LEXMATCH -MONDO:0033810 isolated iridoschisis skos:closeMatch Orphanet:519392 Isolated iridoschisis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033810 LEXMATCH -MONDO:0033810 isolated iridoschisis skos:closeMatch Orphanet:519392 Isolated iridoschisis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033810 LEXMATCH -MONDO:0033810 isolated iridoschisis skos:closeMatch Orphanet:519392 Isolated iridoschisis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519392 LEXMATCH -MONDO:0033816 thygeson superficial punctate keratopathy skos:closeMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519406 LEXMATCH -MONDO:0033816 thygeson superficial punctate keratopathy skos:closeMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22131 LEXMATCH -MONDO:0033816 thygeson superficial punctate keratopathy skos:closeMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033816 LEXMATCH -MONDO:0033816 thygeson superficial punctate keratopathy skos:closeMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033816 LEXMATCH -MONDO:0033816 thygeson superficial punctate keratopathy skos:closeMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519406 LEXMATCH -MONDO:0033818 Terrien marginal degeneration skos:closeMatch Orphanet:519410 Terrien marginal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519410 LEXMATCH -MONDO:0033818 Terrien marginal degeneration skos:closeMatch Orphanet:519410 Terrien marginal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22133 LEXMATCH -MONDO:0033818 Terrien marginal degeneration skos:closeMatch Orphanet:519410 Terrien marginal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033818 LEXMATCH -MONDO:0033818 Terrien marginal degeneration skos:closeMatch Orphanet:519410 Terrien marginal degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033818 LEXMATCH -MONDO:0033818 Terrien marginal degeneration skos:closeMatch Orphanet:519410 Terrien marginal degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519410 LEXMATCH -MONDO:0033821 fungal keratitis skos:closeMatch Orphanet:519930 Fungal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519930 LEXMATCH -MONDO:0033821 fungal keratitis skos:closeMatch Orphanet:519930 Fungal keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22134 LEXMATCH -MONDO:0033821 fungal keratitis skos:closeMatch Orphanet:519930 Fungal keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033821 LEXMATCH -MONDO:0033821 fungal keratitis skos:closeMatch Orphanet:519930 Fungal keratitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033821 LEXMATCH -MONDO:0033821 fungal keratitis skos:closeMatch Orphanet:519930 Fungal keratitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519930 LEXMATCH -MONDO:0033838 radiation-induced plexopathy skos:closeMatch Orphanet:521123 Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521123 LEXMATCH -MONDO:0033838 radiation-induced plexopathy skos:closeMatch Orphanet:521123 Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22137 LEXMATCH -MONDO:0033838 radiation-induced plexopathy skos:closeMatch Orphanet:521123 Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033838 LEXMATCH -MONDO:0033838 radiation-induced plexopathy skos:closeMatch Orphanet:521123 Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033838 LEXMATCH -MONDO:0033838 radiation-induced plexopathy skos:closeMatch Orphanet:521123 Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521123 LEXMATCH -MONDO:0033839 osteoradionecrosis of the mandible skos:closeMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521127 LEXMATCH -MONDO:0033839 osteoradionecrosis of the mandible skos:closeMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22138 LEXMATCH -MONDO:0033839 osteoradionecrosis of the mandible skos:closeMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033839 LEXMATCH -MONDO:0033839 osteoradionecrosis of the mandible skos:closeMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033839 LEXMATCH -MONDO:0033839 osteoradionecrosis of the mandible skos:closeMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521127 LEXMATCH -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:closeMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521411 LEXMATCH -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:closeMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22143 LEXMATCH -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:closeMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033850 LEXMATCH -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:closeMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033850 LEXMATCH -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:closeMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521411 LEXMATCH -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:closeMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521432 LEXMATCH -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:closeMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22144 LEXMATCH -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:closeMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033853 LEXMATCH -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:closeMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033853 LEXMATCH -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:closeMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521432 LEXMATCH -MONDO:0033856 LAMA5-related multisystemic syndrome skos:closeMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521450 LEXMATCH -MONDO:0033856 LAMA5-related multisystemic syndrome skos:closeMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22146 LEXMATCH -MONDO:0033856 LAMA5-related multisystemic syndrome skos:closeMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033856 LEXMATCH -MONDO:0033856 LAMA5-related multisystemic syndrome skos:closeMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033856 LEXMATCH -MONDO:0033856 LAMA5-related multisystemic syndrome skos:closeMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521450 LEXMATCH -MONDO:0033862 primary autoimmune enteropathy skos:closeMatch Orphanet:522037 Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:522037 LEXMATCH -MONDO:0033862 primary autoimmune enteropathy skos:closeMatch Orphanet:522037 Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22147 LEXMATCH -MONDO:0033862 primary autoimmune enteropathy skos:closeMatch Orphanet:522037 Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033862 LEXMATCH -MONDO:0033862 primary autoimmune enteropathy skos:closeMatch Orphanet:522037 Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033862 LEXMATCH -MONDO:0033862 primary autoimmune enteropathy skos:closeMatch Orphanet:522037 Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:522037 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618218 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:522077 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17962 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033864 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033864 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618218 LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:522077 LEXMATCH -MONDO:0033925 pediatric-onset Graves disease skos:closeMatch Orphanet:525731 Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:525731 LEXMATCH -MONDO:0033925 pediatric-onset Graves disease skos:closeMatch Orphanet:525731 Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22190 LEXMATCH -MONDO:0033925 pediatric-onset Graves disease skos:closeMatch Orphanet:525731 Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033925 LEXMATCH -MONDO:0033925 pediatric-onset Graves disease skos:closeMatch Orphanet:525731 Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033925 LEXMATCH -MONDO:0033925 pediatric-onset Graves disease skos:closeMatch Orphanet:525731 Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:525731 LEXMATCH -MONDO:0033926 prepubertal anorexia nervosa skos:closeMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:525738 LEXMATCH -MONDO:0033926 prepubertal anorexia nervosa skos:closeMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22191 LEXMATCH -MONDO:0033926 prepubertal anorexia nervosa skos:closeMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033926 LEXMATCH -MONDO:0033926 prepubertal anorexia nervosa skos:closeMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033926 LEXMATCH -MONDO:0033926 prepubertal anorexia nervosa skos:closeMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:525738 LEXMATCH -MONDO:0033938 acute radiation syndrome skos:closeMatch Orphanet:454831 Acute radiation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:454831 LEXMATCH -MONDO:0033938 acute radiation syndrome skos:closeMatch Orphanet:454831 Acute radiation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21896 LEXMATCH -MONDO:0033938 acute radiation syndrome skos:closeMatch Orphanet:454831 Acute radiation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033938 LEXMATCH -MONDO:0033938 acute radiation syndrome skos:closeMatch Orphanet:454831 Acute radiation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033938 LEXMATCH -MONDO:0033938 acute radiation syndrome skos:closeMatch Orphanet:454831 Acute radiation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:454831 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106100 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106100 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:528623 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22194 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033946 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033946 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:528623 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:106100 LEXMATCH -MONDO:0033948 acquired angioedema with C1Inh deficiency skos:closeMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:528663 LEXMATCH -MONDO:0033948 acquired angioedema with C1Inh deficiency skos:closeMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22196 LEXMATCH -MONDO:0033948 acquired angioedema with C1Inh deficiency skos:closeMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033948 LEXMATCH -MONDO:0033948 acquired angioedema with C1Inh deficiency skos:closeMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033948 LEXMATCH -MONDO:0033948 acquired angioedema with C1Inh deficiency skos:closeMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:528663 LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:closeMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529468 LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:closeMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12980 LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:closeMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033954 LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:closeMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033954 LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:closeMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529468 LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:closeMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529977 LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:closeMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22204 LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:closeMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033968 LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:closeMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033968 LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:closeMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529977 LEXMATCH -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:closeMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529980 LEXMATCH -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:closeMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22205 LEXMATCH -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:closeMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033969 LEXMATCH -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:closeMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033969 LEXMATCH -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:closeMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529980 LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:closeMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530792 LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:closeMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22210 LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:closeMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0033980 LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:closeMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0033980 LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:closeMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530792 LEXMATCH -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:536471 LEXMATCH -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22214 LEXMATCH -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034021 LEXMATCH -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034021 LEXMATCH -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:536471 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:536516 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22215 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034022 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034022 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:536516 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616471 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16121 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616471 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616471 LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616471 LEXMATCH -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:536545 LEXMATCH -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2083 LEXMATCH -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034024 LEXMATCH -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034024 LEXMATCH -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:536545 LEXMATCH -MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:closeMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538101 LEXMATCH -MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:closeMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22218 LEXMATCH -MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:closeMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034041 LEXMATCH -MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:closeMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034041 LEXMATCH -MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:closeMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538101 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618261 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538958 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17978 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618261 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034054 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034054 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618261 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538958 LEXMATCH -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618261 LEXMATCH -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:closeMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:543470 LEXMATCH -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:closeMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22231 LEXMATCH -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:closeMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034092 LEXMATCH -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:closeMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034092 LEXMATCH -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:closeMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:543470 LEXMATCH -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy skos:closeMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544254 LEXMATCH -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy skos:closeMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22232 LEXMATCH -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy skos:closeMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034099 LEXMATCH -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy skos:closeMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034099 LEXMATCH -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy skos:closeMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544254 LEXMATCH -MONDO:0034103 infection-related hemolytic uremic syndrome skos:closeMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544482 LEXMATCH -MONDO:0034103 infection-related hemolytic uremic syndrome skos:closeMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22234 LEXMATCH -MONDO:0034103 infection-related hemolytic uremic syndrome skos:closeMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034103 LEXMATCH -MONDO:0034103 infection-related hemolytic uremic syndrome skos:closeMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034103 LEXMATCH -MONDO:0034103 infection-related hemolytic uremic syndrome skos:closeMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544482 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618379 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544503 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17988 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618379 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034106 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034106 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618379 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544503 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618379 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618414 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544602 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17989 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034109 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034109 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618414 LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544602 LEXMATCH -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:closeMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544628 LEXMATCH -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:closeMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22238 LEXMATCH -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:closeMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034110 LEXMATCH -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:closeMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034110 LEXMATCH -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:closeMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544628 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618321 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:555402 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17990 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618321 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034121 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034121 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618321 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:555402 LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618321 LEXMATCH -MONDO:0034127 IgA pemphigus skos:closeMatch Orphanet:555905 IgA pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:555905 LEXMATCH -MONDO:0034127 IgA pemphigus skos:closeMatch Orphanet:555905 IgA pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22242 LEXMATCH -MONDO:0034127 IgA pemphigus skos:closeMatch Orphanet:555905 IgA pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034127 LEXMATCH -MONDO:0034127 IgA pemphigus skos:closeMatch Orphanet:555905 IgA pemphigus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034127 LEXMATCH -MONDO:0034127 IgA pemphigus skos:closeMatch Orphanet:555905 IgA pemphigus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:555905 LEXMATCH -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:556955 LEXMATCH -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17992 LEXMATCH -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034142 LEXMATCH -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034142 LEXMATCH -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:556955 LEXMATCH -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:556985 LEXMATCH -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22246 LEXMATCH -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034143 LEXMATCH -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034143 LEXMATCH -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:closeMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:556985 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618440 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:557003 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17993 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034145 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034145 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618440 LEXMATCH -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:557003 LEXMATCH -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:closeMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:557056 LEXMATCH -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:closeMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22247 LEXMATCH -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:closeMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034146 LEXMATCH -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:closeMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034146 LEXMATCH -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:closeMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:557056 LEXMATCH -MONDO:0034150 idiopathic gastroparesis skos:closeMatch Orphanet:558411 Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:558411 LEXMATCH -MONDO:0034150 idiopathic gastroparesis skos:closeMatch Orphanet:558411 Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22249 LEXMATCH -MONDO:0034150 idiopathic gastroparesis skos:closeMatch Orphanet:558411 Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034150 LEXMATCH -MONDO:0034150 idiopathic gastroparesis skos:closeMatch Orphanet:558411 Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034150 LEXMATCH -MONDO:0034150 idiopathic gastroparesis skos:closeMatch Orphanet:558411 Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:558411 LEXMATCH -MONDO:0034186 autosomal recessive extra-oral halitosis skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562538 LEXMATCH -MONDO:0034186 autosomal recessive extra-oral halitosis skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17996 LEXMATCH -MONDO:0034186 autosomal recessive extra-oral halitosis skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034186 LEXMATCH -MONDO:0034186 autosomal recessive extra-oral halitosis skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034186 LEXMATCH -MONDO:0034186 autosomal recessive extra-oral halitosis skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562538 LEXMATCH -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:closeMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:562639 LEXMATCH -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:closeMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22250 LEXMATCH -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:closeMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034189 LEXMATCH -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:closeMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034189 LEXMATCH -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:closeMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:562639 LEXMATCH -MONDO:0034204 syndromic congenital sodium diarrhea skos:closeMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563708 LEXMATCH -MONDO:0034204 syndromic congenital sodium diarrhea skos:closeMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22262 LEXMATCH -MONDO:0034204 syndromic congenital sodium diarrhea skos:closeMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034204 LEXMATCH -MONDO:0034204 syndromic congenital sodium diarrhea skos:closeMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034204 LEXMATCH -MONDO:0034204 syndromic congenital sodium diarrhea skos:closeMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563708 LEXMATCH -MONDO:0034212 methotrexate toxicity skos:closeMatch Orphanet:565782 Methotrexate toxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565782 LEXMATCH -MONDO:0034212 methotrexate toxicity skos:closeMatch Orphanet:565782 Methotrexate toxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22269 LEXMATCH -MONDO:0034212 methotrexate toxicity skos:closeMatch Orphanet:565782 Methotrexate toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034212 LEXMATCH -MONDO:0034212 methotrexate toxicity skos:closeMatch Orphanet:565782 Methotrexate toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034212 LEXMATCH -MONDO:0034212 methotrexate toxicity skos:closeMatch Orphanet:565782 Methotrexate toxicity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565782 LEXMATCH -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:closeMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566231 LEXMATCH -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:closeMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22275 LEXMATCH -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:closeMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034216 LEXMATCH -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:closeMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034216 LEXMATCH -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:closeMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566231 LEXMATCH -MONDO:0034669 non-syndromic preaxial polydactyly skos:closeMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22026 LEXMATCH -MONDO:0034669 non-syndromic preaxial polydactyly skos:closeMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034669 LEXMATCH -MONDO:0034669 non-syndromic preaxial polydactyly skos:closeMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034669 LEXMATCH -MONDO:0034670 non-syndromic postaxial polydactyly skos:closeMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22027 LEXMATCH -MONDO:0034670 non-syndromic postaxial polydactyly skos:closeMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034670 LEXMATCH -MONDO:0034670 non-syndromic postaxial polydactyly skos:closeMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034670 LEXMATCH -MONDO:0034671 non-syndromic complex polydactyly skos:closeMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22028 LEXMATCH -MONDO:0034671 non-syndromic complex polydactyly skos:closeMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034671 LEXMATCH -MONDO:0034671 non-syndromic complex polydactyly skos:closeMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034671 LEXMATCH -MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:closeMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498488 LEXMATCH -MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:closeMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22032 LEXMATCH -MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:closeMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034676 LEXMATCH -MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:closeMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034676 LEXMATCH -MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:closeMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498488 LEXMATCH -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:closeMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508476 LEXMATCH -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:closeMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22068 LEXMATCH -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:closeMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034820 LEXMATCH -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:closeMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034820 LEXMATCH -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:closeMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508476 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508501 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22069 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034823 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034823 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508501 LEXMATCH -MONDO:0034846 primary desmosis coli skos:closeMatch Orphanet:565641 Primary desmosis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565641 LEXMATCH -MONDO:0034846 primary desmosis coli skos:closeMatch Orphanet:565641 Primary desmosis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22268 LEXMATCH -MONDO:0034846 primary desmosis coli skos:closeMatch Orphanet:565641 Primary desmosis coli semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034846 LEXMATCH -MONDO:0034846 primary desmosis coli skos:closeMatch Orphanet:565641 Primary desmosis coli semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034846 LEXMATCH -MONDO:0034846 primary desmosis coli skos:closeMatch Orphanet:565641 Primary desmosis coli semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565641 LEXMATCH -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:closeMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:514352 LEXMATCH -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:closeMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22076 LEXMATCH -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:closeMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034895 LEXMATCH -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:closeMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034895 LEXMATCH -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:closeMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:514352 LEXMATCH -MONDO:0034971 isolated congenital entropion skos:closeMatch Orphanet:519386 Isolated congenital entropion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519386 LEXMATCH -MONDO:0034971 isolated congenital entropion skos:closeMatch Orphanet:519386 Isolated congenital entropion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22123 LEXMATCH -MONDO:0034971 isolated congenital entropion skos:closeMatch Orphanet:519386 Isolated congenital entropion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034971 LEXMATCH -MONDO:0034971 isolated congenital entropion skos:closeMatch Orphanet:519386 Isolated congenital entropion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034971 LEXMATCH -MONDO:0034971 isolated congenital entropion skos:closeMatch Orphanet:519386 Isolated congenital entropion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519386 LEXMATCH -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576379 LEXMATCH -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22329 LEXMATCH -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034976 LEXMATCH -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034976 LEXMATCH -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576379 LEXMATCH -MONDO:0034978 isolated foveal hypoplasia skos:closeMatch Orphanet:519398 Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:519398 LEXMATCH -MONDO:0034978 isolated foveal hypoplasia skos:closeMatch Orphanet:519398 Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22127 LEXMATCH -MONDO:0034978 isolated foveal hypoplasia skos:closeMatch Orphanet:519398 Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034978 LEXMATCH -MONDO:0034978 isolated foveal hypoplasia skos:closeMatch Orphanet:519398 Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034978 LEXMATCH -MONDO:0034978 isolated foveal hypoplasia skos:closeMatch Orphanet:519398 Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:519398 LEXMATCH -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:closeMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:580572 LEXMATCH -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:closeMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22331 LEXMATCH -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:closeMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034987 LEXMATCH -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:closeMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034987 LEXMATCH -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:closeMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:580572 LEXMATCH -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508498 LEXMATCH -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17948 LEXMATCH -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034989 LEXMATCH -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034989 LEXMATCH -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508498 LEXMATCH -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508512 LEXMATCH -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17949 LEXMATCH -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0034991 LEXMATCH -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0034991 LEXMATCH -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508512 LEXMATCH -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:closeMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583595 LEXMATCH -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:closeMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22334 LEXMATCH -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:closeMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035004 LEXMATCH -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:closeMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035004 LEXMATCH -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:closeMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583595 LEXMATCH -MONDO:0035008 isolated splenic vein thrombosis skos:closeMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583856 LEXMATCH -MONDO:0035008 isolated splenic vein thrombosis skos:closeMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22338 LEXMATCH -MONDO:0035008 isolated splenic vein thrombosis skos:closeMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035008 LEXMATCH -MONDO:0035008 isolated splenic vein thrombosis skos:closeMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035008 LEXMATCH -MONDO:0035008 isolated splenic vein thrombosis skos:closeMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583856 LEXMATCH -MONDO:0035009 isolated mesenteric vein thrombosis skos:closeMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583861 LEXMATCH -MONDO:0035009 isolated mesenteric vein thrombosis skos:closeMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22339 LEXMATCH -MONDO:0035009 isolated mesenteric vein thrombosis skos:closeMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035009 LEXMATCH -MONDO:0035009 isolated mesenteric vein thrombosis skos:closeMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035009 LEXMATCH -MONDO:0035009 isolated mesenteric vein thrombosis skos:closeMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583861 LEXMATCH -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:closeMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521308 LEXMATCH -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:closeMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22142 LEXMATCH -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:closeMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035018 LEXMATCH -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:closeMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035018 LEXMATCH -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:closeMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521308 LEXMATCH -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:closeMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521445 LEXMATCH -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:closeMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22145 LEXMATCH -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:closeMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035027 LEXMATCH -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:closeMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035027 LEXMATCH -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:closeMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521445 LEXMATCH -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:closeMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:527468 LEXMATCH -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:closeMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22193 LEXMATCH -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:closeMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035105 LEXMATCH -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:closeMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035105 LEXMATCH -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:closeMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:527468 LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:closeMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585867 LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:closeMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22340 LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:closeMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035112 LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:closeMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035112 LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:closeMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585867 LEXMATCH -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome skos:closeMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589515 LEXMATCH -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome skos:closeMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22351 LEXMATCH -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome skos:closeMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035117 LEXMATCH -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome skos:closeMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035117 LEXMATCH -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome skos:closeMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589515 LEXMATCH -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:closeMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589542 LEXMATCH -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:closeMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22355 LEXMATCH -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:closeMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035121 LEXMATCH -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:closeMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035121 LEXMATCH -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:closeMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589542 LEXMATCH -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589547 LEXMATCH -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22356 LEXMATCH -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035122 LEXMATCH -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035122 LEXMATCH -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:closeMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589547 LEXMATCH -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:closeMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589608 LEXMATCH -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:closeMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22358 LEXMATCH -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:closeMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035124 LEXMATCH -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:closeMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035124 LEXMATCH -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:closeMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589608 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617991 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589905 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22367 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035133 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035133 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617991 LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589905 LEXMATCH -MONDO:0035136 isolated melanotic schwannoma skos:closeMatch Orphanet:590539 Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:590539 LEXMATCH -MONDO:0035136 isolated melanotic schwannoma skos:closeMatch Orphanet:590539 Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22368 LEXMATCH -MONDO:0035136 isolated melanotic schwannoma skos:closeMatch Orphanet:590539 Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035136 LEXMATCH -MONDO:0035136 isolated melanotic schwannoma skos:closeMatch Orphanet:590539 Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035136 LEXMATCH -MONDO:0035136 isolated melanotic schwannoma skos:closeMatch Orphanet:590539 Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:590539 LEXMATCH -MONDO:0035149 secondary erythromelalgia skos:closeMatch Orphanet:529864 Secondary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529864 LEXMATCH -MONDO:0035149 secondary erythromelalgia skos:closeMatch Orphanet:529864 Secondary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22201 LEXMATCH -MONDO:0035149 secondary erythromelalgia skos:closeMatch Orphanet:529864 Secondary erythromelalgia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035149 LEXMATCH -MONDO:0035149 secondary erythromelalgia skos:closeMatch Orphanet:529864 Secondary erythromelalgia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035149 LEXMATCH -MONDO:0035149 secondary erythromelalgia skos:closeMatch Orphanet:529864 Secondary erythromelalgia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529864 LEXMATCH -MONDO:0035151 17q24.2 microdeletion syndrome skos:closeMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529962 LEXMATCH -MONDO:0035151 17q24.2 microdeletion syndrome skos:closeMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22202 LEXMATCH -MONDO:0035151 17q24.2 microdeletion syndrome skos:closeMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035151 LEXMATCH -MONDO:0035151 17q24.2 microdeletion syndrome skos:closeMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035151 LEXMATCH -MONDO:0035151 17q24.2 microdeletion syndrome skos:closeMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529962 LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529970 LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17971 LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035153 LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035153 LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529970 LEXMATCH -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:closeMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530033 LEXMATCH -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:closeMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22206 LEXMATCH -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:closeMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035159 LEXMATCH -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:closeMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035159 LEXMATCH -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:closeMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530033 LEXMATCH -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:closeMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530298 LEXMATCH -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:closeMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22207 LEXMATCH -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:closeMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035160 LEXMATCH -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:closeMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035160 LEXMATCH -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:closeMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530298 LEXMATCH -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:closeMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:530303 LEXMATCH -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:closeMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22208 LEXMATCH -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:closeMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035161 LEXMATCH -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:closeMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035161 LEXMATCH -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:closeMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:530303 LEXMATCH -MONDO:0035162 PIK3CA-related overgrowth syndrome skos:closeMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22209 LEXMATCH -MONDO:0035162 PIK3CA-related overgrowth syndrome skos:closeMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035162 LEXMATCH -MONDO:0035162 PIK3CA-related overgrowth syndrome skos:closeMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035162 LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:closeMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:531151 LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:closeMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22212 LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:closeMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035173 LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:closeMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035173 LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:closeMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:531151 LEXMATCH -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:closeMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:537072 LEXMATCH -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:closeMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22217 LEXMATCH -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:closeMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035220 LEXMATCH -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:closeMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035220 LEXMATCH -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:closeMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:537072 LEXMATCH -MONDO:0035235 classic pyoderma gangrenosum skos:closeMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538863 LEXMATCH -MONDO:0035235 classic pyoderma gangrenosum skos:closeMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22220 LEXMATCH -MONDO:0035235 classic pyoderma gangrenosum skos:closeMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035235 LEXMATCH -MONDO:0035235 classic pyoderma gangrenosum skos:closeMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035235 LEXMATCH -MONDO:0035235 classic pyoderma gangrenosum skos:closeMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538863 LEXMATCH -MONDO:0035236 pustular pyoderma gangrenosum skos:closeMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538866 LEXMATCH -MONDO:0035236 pustular pyoderma gangrenosum skos:closeMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22221 LEXMATCH -MONDO:0035236 pustular pyoderma gangrenosum skos:closeMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035236 LEXMATCH -MONDO:0035236 pustular pyoderma gangrenosum skos:closeMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035236 LEXMATCH -MONDO:0035236 pustular pyoderma gangrenosum skos:closeMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538866 LEXMATCH -MONDO:0035237 bullous pyoderma gangrenosum skos:closeMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538869 LEXMATCH -MONDO:0035237 bullous pyoderma gangrenosum skos:closeMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22222 LEXMATCH -MONDO:0035237 bullous pyoderma gangrenosum skos:closeMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035237 LEXMATCH -MONDO:0035237 bullous pyoderma gangrenosum skos:closeMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035237 LEXMATCH -MONDO:0035237 bullous pyoderma gangrenosum skos:closeMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538869 LEXMATCH -MONDO:0035238 vegetative pyoderma gangrenosum skos:closeMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:538872 LEXMATCH -MONDO:0035238 vegetative pyoderma gangrenosum skos:closeMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22223 LEXMATCH -MONDO:0035238 vegetative pyoderma gangrenosum skos:closeMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035238 LEXMATCH -MONDO:0035238 vegetative pyoderma gangrenosum skos:closeMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035238 LEXMATCH -MONDO:0035238 vegetative pyoderma gangrenosum skos:closeMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:538872 LEXMATCH -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544472 LEXMATCH -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17986 LEXMATCH -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035290 LEXMATCH -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035290 LEXMATCH -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544472 LEXMATCH -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:closeMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544493 LEXMATCH -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:closeMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22235 LEXMATCH -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:closeMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035293 LEXMATCH -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:closeMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035293 LEXMATCH -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:closeMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544493 LEXMATCH -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:closeMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544578 LEXMATCH -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:closeMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22236 LEXMATCH -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:closeMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035295 LEXMATCH -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:closeMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035295 LEXMATCH -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:closeMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544578 LEXMATCH -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:555434 LEXMATCH -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22239 LEXMATCH -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035312 LEXMATCH -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035312 LEXMATCH -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:555434 LEXMATCH -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:555437 LEXMATCH -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22240 LEXMATCH -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035313 LEXMATCH -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035313 LEXMATCH -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:closeMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:555437 LEXMATCH -MONDO:0035320 early-onset familial hypoaldosteronism skos:closeMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:556030 LEXMATCH -MONDO:0035320 early-onset familial hypoaldosteronism skos:closeMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22243 LEXMATCH -MONDO:0035320 early-onset familial hypoaldosteronism skos:closeMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035320 LEXMATCH -MONDO:0035320 early-onset familial hypoaldosteronism skos:closeMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035320 LEXMATCH -MONDO:0035320 early-onset familial hypoaldosteronism skos:closeMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:556030 LEXMATCH -MONDO:0035321 late-onset familial hypoaldosteronism skos:closeMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:556037 LEXMATCH -MONDO:0035321 late-onset familial hypoaldosteronism skos:closeMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22244 LEXMATCH -MONDO:0035321 late-onset familial hypoaldosteronism skos:closeMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035321 LEXMATCH -MONDO:0035321 late-onset familial hypoaldosteronism skos:closeMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035321 LEXMATCH -MONDO:0035321 late-onset familial hypoaldosteronism skos:closeMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:556037 LEXMATCH -MONDO:0035337 Duane retraction syndrome with congenital deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529574 LEXMATCH -MONDO:0035337 Duane retraction syndrome with congenital deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17968 LEXMATCH -MONDO:0035337 Duane retraction syndrome with congenital deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035337 LEXMATCH -MONDO:0035337 Duane retraction syndrome with congenital deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035337 LEXMATCH -MONDO:0035337 Duane retraction syndrome with congenital deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529574 LEXMATCH -MONDO:0035344 acute bilirubin encephalopathy skos:closeMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529799 LEXMATCH -MONDO:0035344 acute bilirubin encephalopathy skos:closeMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22197 LEXMATCH -MONDO:0035344 acute bilirubin encephalopathy skos:closeMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035344 LEXMATCH -MONDO:0035344 acute bilirubin encephalopathy skos:closeMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035344 LEXMATCH -MONDO:0035344 acute bilirubin encephalopathy skos:closeMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529799 LEXMATCH -MONDO:0035345 chronic bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529808 LEXMATCH -MONDO:0035345 chronic bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22198 LEXMATCH -MONDO:0035345 chronic bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035345 LEXMATCH -MONDO:0035345 chronic bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035345 LEXMATCH -MONDO:0035345 chronic bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529808 LEXMATCH -MONDO:0035349 localized dystrophic epidermolysis bullosa skos:closeMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:595356 LEXMATCH -MONDO:0035349 localized dystrophic epidermolysis bullosa skos:closeMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22388 LEXMATCH -MONDO:0035349 localized dystrophic epidermolysis bullosa skos:closeMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035349 LEXMATCH -MONDO:0035349 localized dystrophic epidermolysis bullosa skos:closeMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035349 LEXMATCH -MONDO:0035349 localized dystrophic epidermolysis bullosa skos:closeMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:595356 LEXMATCH -MONDO:0035350 letrozole toxicity skos:closeMatch Orphanet:529831 Letrozole toxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529831 LEXMATCH -MONDO:0035350 letrozole toxicity skos:closeMatch Orphanet:529831 Letrozole toxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22199 LEXMATCH -MONDO:0035350 letrozole toxicity skos:closeMatch Orphanet:529831 Letrozole toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035350 LEXMATCH -MONDO:0035350 letrozole toxicity skos:closeMatch Orphanet:529831 Letrozole toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035350 LEXMATCH -MONDO:0035350 letrozole toxicity skos:closeMatch Orphanet:529831 Letrozole toxicity semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529831 LEXMATCH -MONDO:0035357 portosinusoidal vascular disease skos:closeMatch Orphanet:596937 Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596937 LEXMATCH -MONDO:0035357 portosinusoidal vascular disease skos:closeMatch Orphanet:596937 Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22393 LEXMATCH -MONDO:0035357 portosinusoidal vascular disease skos:closeMatch Orphanet:596937 Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035357 LEXMATCH -MONDO:0035357 portosinusoidal vascular disease skos:closeMatch Orphanet:596937 Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035357 LEXMATCH -MONDO:0035357 portosinusoidal vascular disease skos:closeMatch Orphanet:596937 Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596937 LEXMATCH -MONDO:0035362 TRIM22-related inflammatory bowel disease skos:closeMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597201 LEXMATCH -MONDO:0035362 TRIM22-related inflammatory bowel disease skos:closeMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22395 LEXMATCH -MONDO:0035362 TRIM22-related inflammatory bowel disease skos:closeMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035362 LEXMATCH -MONDO:0035362 TRIM22-related inflammatory bowel disease skos:closeMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035362 LEXMATCH -MONDO:0035362 TRIM22-related inflammatory bowel disease skos:closeMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597201 LEXMATCH -MONDO:0035370 ALPI-related inflammatory bowel disease skos:closeMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597887 LEXMATCH -MONDO:0035370 ALPI-related inflammatory bowel disease skos:closeMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22400 LEXMATCH -MONDO:0035370 ALPI-related inflammatory bowel disease skos:closeMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035370 LEXMATCH -MONDO:0035370 ALPI-related inflammatory bowel disease skos:closeMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035370 LEXMATCH -MONDO:0035370 ALPI-related inflammatory bowel disease skos:closeMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597887 LEXMATCH -MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:closeMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:598363 LEXMATCH -MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:closeMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22403 LEXMATCH -MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:closeMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035375 LEXMATCH -MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:closeMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035375 LEXMATCH -MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:closeMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:598363 LEXMATCH -MONDO:0035383 FOXG1 syndrome skos:closeMatch Orphanet:561854 FOXG1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:561854 LEXMATCH -MONDO:0035383 FOXG1 syndrome skos:closeMatch Orphanet:561854 FOXG1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12825 LEXMATCH -MONDO:0035383 FOXG1 syndrome skos:closeMatch Orphanet:561854 FOXG1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035383 LEXMATCH -MONDO:0035383 FOXG1 syndrome skos:closeMatch Orphanet:561854 FOXG1 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035383 LEXMATCH -MONDO:0035383 FOXG1 syndrome skos:closeMatch Orphanet:561854 FOXG1 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:561854 LEXMATCH -MONDO:0035400 seronegative autoimmune hepatitis skos:closeMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563589 LEXMATCH -MONDO:0035400 seronegative autoimmune hepatitis skos:closeMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22253 LEXMATCH -MONDO:0035400 seronegative autoimmune hepatitis skos:closeMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035400 LEXMATCH -MONDO:0035400 seronegative autoimmune hepatitis skos:closeMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035400 LEXMATCH -MONDO:0035400 seronegative autoimmune hepatitis skos:closeMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563589 LEXMATCH -MONDO:0035401 isolated anencephaly skos:closeMatch Orphanet:563609 Isolated anencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563609 LEXMATCH -MONDO:0035401 isolated anencephaly skos:closeMatch Orphanet:563609 Isolated anencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22254 LEXMATCH -MONDO:0035401 isolated anencephaly skos:closeMatch Orphanet:563609 Isolated anencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035401 LEXMATCH -MONDO:0035401 isolated anencephaly skos:closeMatch Orphanet:563609 Isolated anencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035401 LEXMATCH -MONDO:0035401 isolated anencephaly skos:closeMatch Orphanet:563609 Isolated anencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563609 LEXMATCH -MONDO:0035402 isolated exencephaly skos:closeMatch Orphanet:563612 Isolated exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563612 LEXMATCH -MONDO:0035402 isolated exencephaly skos:closeMatch Orphanet:563612 Isolated exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22255 LEXMATCH -MONDO:0035402 isolated exencephaly skos:closeMatch Orphanet:563612 Isolated exencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035402 LEXMATCH -MONDO:0035402 isolated exencephaly skos:closeMatch Orphanet:563612 Isolated exencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035402 LEXMATCH -MONDO:0035402 isolated exencephaly skos:closeMatch Orphanet:563612 Isolated exencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563612 LEXMATCH -MONDO:0035403 serous cystadenoma of childhood skos:closeMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563666 LEXMATCH -MONDO:0035403 serous cystadenoma of childhood skos:closeMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22256 LEXMATCH -MONDO:0035403 serous cystadenoma of childhood skos:closeMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035403 LEXMATCH -MONDO:0035403 serous cystadenoma of childhood skos:closeMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035403 LEXMATCH -MONDO:0035403 serous cystadenoma of childhood skos:closeMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563666 LEXMATCH -MONDO:0035404 mucinous cystadenoma of childhood skos:closeMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563671 LEXMATCH -MONDO:0035404 mucinous cystadenoma of childhood skos:closeMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22257 LEXMATCH -MONDO:0035404 mucinous cystadenoma of childhood skos:closeMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035404 LEXMATCH -MONDO:0035404 mucinous cystadenoma of childhood skos:closeMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035404 LEXMATCH -MONDO:0035404 mucinous cystadenoma of childhood skos:closeMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563671 LEXMATCH -MONDO:0035405 seromucinous cystadenoma of childhood skos:closeMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563676 LEXMATCH -MONDO:0035405 seromucinous cystadenoma of childhood skos:closeMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22258 LEXMATCH -MONDO:0035405 seromucinous cystadenoma of childhood skos:closeMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035405 LEXMATCH -MONDO:0035405 seromucinous cystadenoma of childhood skos:closeMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035405 LEXMATCH -MONDO:0035405 seromucinous cystadenoma of childhood skos:closeMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563676 LEXMATCH -MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:closeMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563684 LEXMATCH -MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:closeMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22259 LEXMATCH -MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:closeMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035406 LEXMATCH -MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:closeMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035406 LEXMATCH -MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:closeMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563684 LEXMATCH -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:closeMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563687 LEXMATCH -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:closeMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22260 LEXMATCH -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:closeMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035407 LEXMATCH -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:closeMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035407 LEXMATCH -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:closeMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563687 LEXMATCH -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:closeMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563690 LEXMATCH -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:closeMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22261 LEXMATCH -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:closeMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035408 LEXMATCH -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:closeMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035408 LEXMATCH -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:closeMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563690 LEXMATCH -MONDO:0035410 isolated congenital aglossia skos:closeMatch Orphanet:563951 Isolated congenital aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563951 LEXMATCH -MONDO:0035410 isolated congenital aglossia skos:closeMatch Orphanet:563951 Isolated congenital aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22263 LEXMATCH -MONDO:0035410 isolated congenital aglossia skos:closeMatch Orphanet:563951 Isolated congenital aglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035410 LEXMATCH -MONDO:0035410 isolated congenital aglossia skos:closeMatch Orphanet:563951 Isolated congenital aglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035410 LEXMATCH -MONDO:0035410 isolated congenital aglossia skos:closeMatch Orphanet:563951 Isolated congenital aglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563951 LEXMATCH -MONDO:0035411 isolated congenital hypoglossia skos:closeMatch Orphanet:563954 Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:563954 LEXMATCH -MONDO:0035411 isolated congenital hypoglossia skos:closeMatch Orphanet:563954 Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22264 LEXMATCH -MONDO:0035411 isolated congenital hypoglossia skos:closeMatch Orphanet:563954 Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035411 LEXMATCH -MONDO:0035411 isolated congenital hypoglossia skos:closeMatch Orphanet:563954 Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035411 LEXMATCH -MONDO:0035411 isolated congenital hypoglossia skos:closeMatch Orphanet:563954 Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:563954 LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:closeMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565612 LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:closeMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22267 LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:closeMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035423 LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:closeMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035423 LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:closeMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565612 LEXMATCH -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:closeMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565899 LEXMATCH -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:closeMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22271 LEXMATCH -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:closeMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035432 LEXMATCH -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:closeMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035432 LEXMATCH -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:closeMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565899 LEXMATCH -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 skos:closeMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:565909 LEXMATCH -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 skos:closeMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22272 LEXMATCH -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 skos:closeMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035433 LEXMATCH -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 skos:closeMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035433 LEXMATCH -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 skos:closeMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:565909 LEXMATCH -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:closeMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566067 LEXMATCH -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:closeMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22273 LEXMATCH -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:closeMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035437 LEXMATCH -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:closeMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035437 LEXMATCH -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:closeMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566067 LEXMATCH -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:closeMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566192 LEXMATCH -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:closeMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22274 LEXMATCH -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:closeMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035441 LEXMATCH -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:closeMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035441 LEXMATCH -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:closeMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566192 LEXMATCH -MONDO:0035444 acute mast cell leukemia skos:closeMatch Orphanet:566393 Acute mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566393 LEXMATCH -MONDO:0035444 acute mast cell leukemia skos:closeMatch Orphanet:566393 Acute mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22276 LEXMATCH -MONDO:0035444 acute mast cell leukemia skos:closeMatch Orphanet:566393 Acute mast cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035444 LEXMATCH -MONDO:0035444 acute mast cell leukemia skos:closeMatch Orphanet:566393 Acute mast cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035444 LEXMATCH -MONDO:0035444 acute mast cell leukemia skos:closeMatch Orphanet:566393 Acute mast cell leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566393 LEXMATCH -MONDO:0035445 chronic mast cell leukemia skos:closeMatch Orphanet:566396 Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566396 LEXMATCH -MONDO:0035445 chronic mast cell leukemia skos:closeMatch Orphanet:566396 Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22277 LEXMATCH -MONDO:0035445 chronic mast cell leukemia skos:closeMatch Orphanet:566396 Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035445 LEXMATCH -MONDO:0035445 chronic mast cell leukemia skos:closeMatch Orphanet:566396 Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035445 LEXMATCH -MONDO:0035445 chronic mast cell leukemia skos:closeMatch Orphanet:566396 Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566396 LEXMATCH -MONDO:0035447 liver adenomatosis skos:closeMatch Orphanet:566841 Liver adenomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566841 LEXMATCH -MONDO:0035447 liver adenomatosis skos:closeMatch Orphanet:566841 Liver adenomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22278 LEXMATCH -MONDO:0035447 liver adenomatosis skos:closeMatch Orphanet:566841 Liver adenomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035447 LEXMATCH -MONDO:0035447 liver adenomatosis skos:closeMatch Orphanet:566841 Liver adenomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035447 LEXMATCH -MONDO:0035447 liver adenomatosis skos:closeMatch Orphanet:566841 Liver adenomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566841 LEXMATCH -MONDO:0035449 atelencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566852 LEXMATCH -MONDO:0035449 atelencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22280 LEXMATCH -MONDO:0035449 atelencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035449 LEXMATCH -MONDO:0035449 atelencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035449 LEXMATCH -MONDO:0035449 atelencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566852 LEXMATCH -MONDO:0035450 aprosencephaly skos:closeMatch Orphanet:566857 Aprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566857 LEXMATCH -MONDO:0035450 aprosencephaly skos:closeMatch Orphanet:566857 Aprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22281 LEXMATCH -MONDO:0035450 aprosencephaly skos:closeMatch Orphanet:566857 Aprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035450 LEXMATCH -MONDO:0035450 aprosencephaly skos:closeMatch Orphanet:566857 Aprosencephaly semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035450 LEXMATCH -MONDO:0035450 aprosencephaly skos:closeMatch Orphanet:566857 Aprosencephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566857 LEXMATCH -MONDO:0035452 mueller-weiss syndrome skos:closeMatch Orphanet:566943 Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:566943 LEXMATCH -MONDO:0035452 mueller-weiss syndrome skos:closeMatch Orphanet:566943 Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22283 LEXMATCH -MONDO:0035452 mueller-weiss syndrome skos:closeMatch Orphanet:566943 Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035452 LEXMATCH -MONDO:0035452 mueller-weiss syndrome skos:closeMatch Orphanet:566943 Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035452 LEXMATCH -MONDO:0035452 mueller-weiss syndrome skos:closeMatch Orphanet:566943 Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:566943 LEXMATCH -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567502 LEXMATCH -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22284 LEXMATCH -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035454 LEXMATCH -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035454 LEXMATCH -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567502 LEXMATCH -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:closeMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567550 LEXMATCH -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:closeMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22287 LEXMATCH -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:closeMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035459 LEXMATCH -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:closeMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035459 LEXMATCH -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:closeMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567550 LEXMATCH -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:closeMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567552 LEXMATCH -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:closeMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22288 LEXMATCH -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:closeMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035460 LEXMATCH -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:closeMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035460 LEXMATCH -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:closeMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567552 LEXMATCH -MONDO:0035472 GJC2-related late-onset primary lymphedema skos:closeMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:568051 LEXMATCH -MONDO:0035472 GJC2-related late-onset primary lymphedema skos:closeMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22299 LEXMATCH -MONDO:0035472 GJC2-related late-onset primary lymphedema skos:closeMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035472 LEXMATCH -MONDO:0035472 GJC2-related late-onset primary lymphedema skos:closeMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035472 LEXMATCH -MONDO:0035472 GJC2-related late-onset primary lymphedema skos:closeMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:568051 LEXMATCH -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:closeMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:568056 LEXMATCH -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:closeMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22300 LEXMATCH -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:closeMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035473 LEXMATCH -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:closeMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035473 LEXMATCH -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:closeMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:568056 LEXMATCH -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:568062 LEXMATCH -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22301 LEXMATCH -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035474 LEXMATCH -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035474 LEXMATCH -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:568062 LEXMATCH -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:568065 LEXMATCH -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22302 LEXMATCH -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035475 LEXMATCH -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035475 LEXMATCH -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:closeMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:568065 LEXMATCH -MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:closeMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569816 LEXMATCH -MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:closeMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22306 LEXMATCH -MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:closeMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035499 LEXMATCH -MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:closeMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035499 LEXMATCH -MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:closeMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569816 LEXMATCH -MONDO:0035500 congenital primary lymphedema of Gordon skos:closeMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569821 LEXMATCH -MONDO:0035500 congenital primary lymphedema of Gordon skos:closeMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22307 LEXMATCH -MONDO:0035500 congenital primary lymphedema of Gordon skos:closeMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035500 LEXMATCH -MONDO:0035500 congenital primary lymphedema of Gordon skos:closeMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035500 LEXMATCH -MONDO:0035500 congenital primary lymphedema of Gordon skos:closeMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569821 LEXMATCH -MONDO:0035511 ricin poisoning skos:closeMatch Orphanet:570470 Ricin poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570470 LEXMATCH -MONDO:0035511 ricin poisoning skos:closeMatch Orphanet:570470 Ricin poisoning semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22311 LEXMATCH -MONDO:0035511 ricin poisoning skos:closeMatch Orphanet:570470 Ricin poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035511 LEXMATCH -MONDO:0035511 ricin poisoning skos:closeMatch Orphanet:570470 Ricin poisoning semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035511 LEXMATCH -MONDO:0035511 ricin poisoning skos:closeMatch Orphanet:570470 Ricin poisoning semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570470 LEXMATCH -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572333 LEXMATCH -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22312 LEXMATCH -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035521 LEXMATCH -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035521 LEXMATCH -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572333 LEXMATCH -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572354 LEXMATCH -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18008 LEXMATCH -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035524 LEXMATCH -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035524 LEXMATCH -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572354 LEXMATCH -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572361 LEXMATCH -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10213 LEXMATCH -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035525 LEXMATCH -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035525 LEXMATCH -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572361 LEXMATCH -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:closeMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572428 LEXMATCH -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:closeMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22313 LEXMATCH -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:closeMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035529 LEXMATCH -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:closeMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035529 LEXMATCH -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:closeMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572428 LEXMATCH -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:closeMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572761 LEXMATCH -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:closeMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22314 LEXMATCH -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:closeMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035534 LEXMATCH -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:closeMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035534 LEXMATCH -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:closeMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572761 LEXMATCH -MONDO:0035540 pheochromocytoma-paraganglioma skos:closeMatch Orphanet:573163 Pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22315 LEXMATCH -MONDO:0035540 pheochromocytoma-paraganglioma skos:closeMatch Orphanet:573163 Pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035540 LEXMATCH -MONDO:0035540 pheochromocytoma-paraganglioma skos:closeMatch Orphanet:573163 Pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035540 LEXMATCH -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency skos:closeMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:574918 LEXMATCH -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency skos:closeMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22318 LEXMATCH -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency skos:closeMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035547 LEXMATCH -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency skos:closeMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035547 LEXMATCH -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency skos:closeMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:574918 LEXMATCH -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:closeMatch Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:574957 LEXMATCH -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:closeMatch Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22319 LEXMATCH -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:closeMatch Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035548 LEXMATCH -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:closeMatch Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035548 LEXMATCH -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:closeMatch Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:574957 LEXMATCH -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:closeMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:575553 LEXMATCH -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:closeMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22320 LEXMATCH -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:closeMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035551 LEXMATCH -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:closeMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035551 LEXMATCH -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:closeMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:575553 LEXMATCH -MONDO:0035562 acquired human prion disease skos:closeMatch Orphanet:576360 Acquired human prion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22328 LEXMATCH -MONDO:0035562 acquired human prion disease skos:closeMatch Orphanet:576360 Acquired human prion disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035562 LEXMATCH -MONDO:0035562 acquired human prion disease skos:closeMatch Orphanet:576360 Acquired human prion disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035562 LEXMATCH -MONDO:0035584 punctate inner choroidopathy skos:closeMatch Orphanet:580951 Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:580951 LEXMATCH -MONDO:0035584 punctate inner choroidopathy skos:closeMatch Orphanet:580951 Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7503 LEXMATCH -MONDO:0035584 punctate inner choroidopathy skos:closeMatch Orphanet:580951 Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035584 LEXMATCH -MONDO:0035584 punctate inner choroidopathy skos:closeMatch Orphanet:580951 Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035584 LEXMATCH -MONDO:0035584 punctate inner choroidopathy skos:closeMatch Orphanet:580951 Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:580951 LEXMATCH -MONDO:0035586 Cramp-fasciculation syndrome skos:closeMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:581271 LEXMATCH -MONDO:0035586 Cramp-fasciculation syndrome skos:closeMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6205 LEXMATCH -MONDO:0035586 Cramp-fasciculation syndrome skos:closeMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035586 LEXMATCH -MONDO:0035586 Cramp-fasciculation syndrome skos:closeMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035586 LEXMATCH -MONDO:0035586 Cramp-fasciculation syndrome skos:closeMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:581271 LEXMATCH -MONDO:0035592 congenital infiltrating lipomatosis of the face skos:closeMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583097 LEXMATCH -MONDO:0035592 congenital infiltrating lipomatosis of the face skos:closeMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22333 LEXMATCH -MONDO:0035592 congenital infiltrating lipomatosis of the face skos:closeMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035592 LEXMATCH -MONDO:0035592 congenital infiltrating lipomatosis of the face skos:closeMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035592 LEXMATCH -MONDO:0035592 congenital infiltrating lipomatosis of the face skos:closeMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583097 LEXMATCH -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:closeMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585877 LEXMATCH -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:closeMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22341 LEXMATCH -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:closeMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035605 LEXMATCH -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:closeMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035605 LEXMATCH -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:closeMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585877 LEXMATCH -MONDO:0035614 sporadic fatal insomnia skos:closeMatch Orphanet:586130 Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:586130 LEXMATCH -MONDO:0035614 sporadic fatal insomnia skos:closeMatch Orphanet:586130 Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22349 LEXMATCH -MONDO:0035614 sporadic fatal insomnia skos:closeMatch Orphanet:586130 Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035614 LEXMATCH -MONDO:0035614 sporadic fatal insomnia skos:closeMatch Orphanet:586130 Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035614 LEXMATCH -MONDO:0035614 sporadic fatal insomnia skos:closeMatch Orphanet:586130 Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:586130 LEXMATCH -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589534 LEXMATCH -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22354 LEXMATCH -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035639 LEXMATCH -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035639 LEXMATCH -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589534 LEXMATCH -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:closeMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589595 LEXMATCH -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:closeMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22357 LEXMATCH -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:closeMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035642 LEXMATCH -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:closeMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035642 LEXMATCH -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:closeMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589595 LEXMATCH -MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589821 LEXMATCH -MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22361 LEXMATCH -MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035646 LEXMATCH -MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035646 LEXMATCH -MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589821 LEXMATCH -MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589824 LEXMATCH -MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22362 LEXMATCH -MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035647 LEXMATCH -MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035647 LEXMATCH -MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589824 LEXMATCH -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589827 LEXMATCH -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22363 LEXMATCH -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035648 LEXMATCH -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035648 LEXMATCH -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589827 LEXMATCH -MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589830 LEXMATCH -MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22364 LEXMATCH -MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035649 LEXMATCH -MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035649 LEXMATCH -MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589830 LEXMATCH -MONDO:0035650 late-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589833 LEXMATCH -MONDO:0035650 late-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22365 LEXMATCH -MONDO:0035650 late-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035650 LEXMATCH -MONDO:0035650 late-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035650 LEXMATCH -MONDO:0035650 late-onset Steinert myotonic dystrophy skos:closeMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589833 LEXMATCH -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:589856 LEXMATCH -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22366 LEXMATCH -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035651 LEXMATCH -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035651 LEXMATCH -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:589856 LEXMATCH -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592564 LEXMATCH -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22369 LEXMATCH -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035660 LEXMATCH -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035660 LEXMATCH -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592564 LEXMATCH -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:closeMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592570 LEXMATCH -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:closeMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22370 LEXMATCH -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:closeMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035661 LEXMATCH -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:closeMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035661 LEXMATCH -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:closeMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592570 LEXMATCH -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:closeMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592850 LEXMATCH -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:closeMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22372 LEXMATCH -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:closeMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035663 LEXMATCH -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:closeMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035663 LEXMATCH -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:closeMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592850 LEXMATCH -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:closeMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592856 LEXMATCH -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:closeMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22373 LEXMATCH -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:closeMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035664 LEXMATCH -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:closeMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035664 LEXMATCH -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:closeMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592856 LEXMATCH -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:closeMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592869 LEXMATCH -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:closeMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22374 LEXMATCH -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:closeMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035665 LEXMATCH -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:closeMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035665 LEXMATCH -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:closeMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592869 LEXMATCH -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:closeMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592873 LEXMATCH -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:closeMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22375 LEXMATCH -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:closeMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035666 LEXMATCH -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:closeMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035666 LEXMATCH -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:closeMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592873 LEXMATCH -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies skos:closeMatch Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592885 LEXMATCH -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies skos:closeMatch Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22376 LEXMATCH -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies skos:closeMatch Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035667 LEXMATCH -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies skos:closeMatch Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035667 LEXMATCH -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies skos:closeMatch Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592885 LEXMATCH -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies skos:closeMatch Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592888 LEXMATCH -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies skos:closeMatch Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22377 LEXMATCH -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies skos:closeMatch Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035668 LEXMATCH -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies skos:closeMatch Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035668 LEXMATCH -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies skos:closeMatch Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592888 LEXMATCH -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:closeMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592894 LEXMATCH -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:closeMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22378 LEXMATCH -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:closeMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035669 LEXMATCH -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:closeMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035669 LEXMATCH -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:closeMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592894 LEXMATCH -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:closeMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:592900 LEXMATCH -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:closeMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22379 LEXMATCH -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:closeMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035670 LEXMATCH -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:closeMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035670 LEXMATCH -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:closeMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:592900 LEXMATCH -MONDO:0035678 Timothy syndrome type 1 skos:closeMatch Orphanet:595098 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:595098 LEXMATCH -MONDO:0035678 Timothy syndrome type 1 skos:closeMatch Orphanet:595098 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22380 LEXMATCH -MONDO:0035678 Timothy syndrome type 1 skos:closeMatch Orphanet:595098 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035678 LEXMATCH -MONDO:0035678 Timothy syndrome type 1 skos:closeMatch Orphanet:595098 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035678 LEXMATCH -MONDO:0035678 Timothy syndrome type 1 skos:closeMatch Orphanet:595098 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:595098 LEXMATCH -MONDO:0035679 Timothy syndrome type 2 skos:closeMatch Orphanet:595105 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:595105 LEXMATCH -MONDO:0035679 Timothy syndrome type 2 skos:closeMatch Orphanet:595105 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22381 LEXMATCH -MONDO:0035679 Timothy syndrome type 2 skos:closeMatch Orphanet:595105 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035679 LEXMATCH -MONDO:0035679 Timothy syndrome type 2 skos:closeMatch Orphanet:595105 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035679 LEXMATCH -MONDO:0035679 Timothy syndrome type 2 skos:closeMatch Orphanet:595105 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:595105 LEXMATCH -MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome skos:closeMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22384 LEXMATCH -MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome skos:closeMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035682 LEXMATCH -MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome skos:closeMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035682 LEXMATCH -MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone skos:closeMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22390 LEXMATCH -MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone skos:closeMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035689 LEXMATCH -MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone skos:closeMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035689 LEXMATCH -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:closeMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596759 LEXMATCH -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:closeMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22392 LEXMATCH -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:closeMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035694 LEXMATCH -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:closeMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035694 LEXMATCH -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:closeMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596759 LEXMATCH -MONDO:0035696 incomplete septal cirrhosis skos:closeMatch Orphanet:596941 Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:596941 LEXMATCH -MONDO:0035696 incomplete septal cirrhosis skos:closeMatch Orphanet:596941 Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22394 LEXMATCH -MONDO:0035696 incomplete septal cirrhosis skos:closeMatch Orphanet:596941 Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035696 LEXMATCH -MONDO:0035696 incomplete septal cirrhosis skos:closeMatch Orphanet:596941 Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035696 LEXMATCH -MONDO:0035696 incomplete septal cirrhosis skos:closeMatch Orphanet:596941 Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:596941 LEXMATCH -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:closeMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597743 LEXMATCH -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:closeMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22397 LEXMATCH -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:closeMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035706 LEXMATCH -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:closeMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035706 LEXMATCH -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:closeMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597743 LEXMATCH -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:closeMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597746 LEXMATCH -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:closeMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22398 LEXMATCH -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:closeMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035707 LEXMATCH -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:closeMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035707 LEXMATCH -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:closeMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597746 LEXMATCH -MONDO:0035713 FOXG1 syndrome due to intragenic alteration skos:closeMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:598164 LEXMATCH -MONDO:0035713 FOXG1 syndrome due to intragenic alteration skos:closeMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22402 LEXMATCH -MONDO:0035713 FOXG1 syndrome due to intragenic alteration skos:closeMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035713 LEXMATCH -MONDO:0035713 FOXG1 syndrome due to intragenic alteration skos:closeMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035713 LEXMATCH -MONDO:0035713 FOXG1 syndrome due to intragenic alteration skos:closeMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:598164 LEXMATCH -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:closeMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599418 LEXMATCH -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:closeMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22406 LEXMATCH -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:closeMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035734 LEXMATCH -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:closeMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035734 LEXMATCH -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:closeMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599418 LEXMATCH -MONDO:0035735 acquired hemophilia A skos:closeMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599480 LEXMATCH -MONDO:0035735 acquired hemophilia A skos:closeMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6405 LEXMATCH -MONDO:0035735 acquired hemophilia A skos:closeMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035735 LEXMATCH -MONDO:0035735 acquired hemophilia A skos:closeMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035735 LEXMATCH -MONDO:0035735 acquired hemophilia A skos:closeMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599480 LEXMATCH -MONDO:0035736 acquired hemophilia B skos:closeMatch Orphanet:599485 Acquired hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599485 LEXMATCH -MONDO:0035736 acquired hemophilia B skos:closeMatch Orphanet:599485 Acquired hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22407 LEXMATCH -MONDO:0035736 acquired hemophilia B skos:closeMatch Orphanet:599485 Acquired hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035736 LEXMATCH -MONDO:0035736 acquired hemophilia B skos:closeMatch Orphanet:599485 Acquired hemophilia B semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035736 LEXMATCH -MONDO:0035736 acquired hemophilia B skos:closeMatch Orphanet:599485 Acquired hemophilia B semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599485 LEXMATCH -MONDO:0035737 acquired factor V deficiency skos:closeMatch Orphanet:599490 Acquired factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599490 LEXMATCH -MONDO:0035737 acquired factor V deficiency skos:closeMatch Orphanet:599490 Acquired factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22408 LEXMATCH -MONDO:0035737 acquired factor V deficiency skos:closeMatch Orphanet:599490 Acquired factor V deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035737 LEXMATCH -MONDO:0035737 acquired factor V deficiency skos:closeMatch Orphanet:599490 Acquired factor V deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035737 LEXMATCH -MONDO:0035737 acquired factor V deficiency skos:closeMatch Orphanet:599490 Acquired factor V deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599490 LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:closeMatch Orphanet:599495 Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599495 LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:closeMatch Orphanet:599495 Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22409 LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:closeMatch Orphanet:599495 Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035738 LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:closeMatch Orphanet:599495 Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035738 LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:closeMatch Orphanet:599495 Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599495 LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:closeMatch Orphanet:599507 Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599507 LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:closeMatch Orphanet:599507 Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22411 LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:closeMatch Orphanet:599507 Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035740 LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:closeMatch Orphanet:599507 Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035740 LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:closeMatch Orphanet:599507 Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599507 LEXMATCH -MONDO:0035742 factor V short isoforms-related bleeding disorder skos:closeMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599519 LEXMATCH -MONDO:0035742 factor V short isoforms-related bleeding disorder skos:closeMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22413 LEXMATCH -MONDO:0035742 factor V short isoforms-related bleeding disorder skos:closeMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035742 LEXMATCH -MONDO:0035742 factor V short isoforms-related bleeding disorder skos:closeMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035742 LEXMATCH -MONDO:0035742 factor V short isoforms-related bleeding disorder skos:closeMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599519 LEXMATCH -MONDO:0035743 factor V amsterdam bleeding disorder skos:closeMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:599579 LEXMATCH -MONDO:0035743 factor V amsterdam bleeding disorder skos:closeMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22414 LEXMATCH -MONDO:0035743 factor V amsterdam bleeding disorder skos:closeMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035743 LEXMATCH -MONDO:0035743 factor V amsterdam bleeding disorder skos:closeMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035743 LEXMATCH -MONDO:0035743 factor V amsterdam bleeding disorder skos:closeMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:599579 LEXMATCH -MONDO:0035759 factor V atlanta bleeding disorder skos:closeMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600194 LEXMATCH -MONDO:0035759 factor V atlanta bleeding disorder skos:closeMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22415 LEXMATCH -MONDO:0035759 factor V atlanta bleeding disorder skos:closeMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035759 LEXMATCH -MONDO:0035759 factor V atlanta bleeding disorder skos:closeMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035759 LEXMATCH -MONDO:0035759 factor V atlanta bleeding disorder skos:closeMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600194 LEXMATCH -MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:closeMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567544 LEXMATCH -MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:closeMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22285 LEXMATCH -MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:closeMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035763 LEXMATCH -MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:closeMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035763 LEXMATCH -MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:closeMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567544 LEXMATCH -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:closeMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567546 LEXMATCH -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:closeMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22286 LEXMATCH -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:closeMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035764 LEXMATCH -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:closeMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035764 LEXMATCH -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:closeMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567546 LEXMATCH -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600663 LEXMATCH -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22416 LEXMATCH -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035774 LEXMATCH -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035774 LEXMATCH -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:closeMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600663 LEXMATCH -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600668 LEXMATCH -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22417 LEXMATCH -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035775 LEXMATCH -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035775 LEXMATCH -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600668 LEXMATCH -MONDO:0035776 combined deficiency of factor VII and factor X skos:closeMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600691 LEXMATCH -MONDO:0035776 combined deficiency of factor VII and factor X skos:closeMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22418 LEXMATCH -MONDO:0035776 combined deficiency of factor VII and factor X skos:closeMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035776 LEXMATCH -MONDO:0035776 combined deficiency of factor VII and factor X skos:closeMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035776 LEXMATCH -MONDO:0035776 combined deficiency of factor VII and factor X skos:closeMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600691 LEXMATCH -MONDO:0035777 parenteral nutrition-associated cholestasis skos:closeMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:567983 LEXMATCH -MONDO:0035777 parenteral nutrition-associated cholestasis skos:closeMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22295 LEXMATCH -MONDO:0035777 parenteral nutrition-associated cholestasis skos:closeMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035777 LEXMATCH -MONDO:0035777 parenteral nutrition-associated cholestasis skos:closeMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035777 LEXMATCH -MONDO:0035777 parenteral nutrition-associated cholestasis skos:closeMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:567983 LEXMATCH -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:closeMatch Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600966 LEXMATCH -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:closeMatch Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22422 LEXMATCH -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:closeMatch Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035782 LEXMATCH -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:closeMatch Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035782 LEXMATCH -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:closeMatch Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600966 LEXMATCH -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:closeMatch Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:600975 LEXMATCH -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:closeMatch Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22423 LEXMATCH -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:closeMatch Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035783 LEXMATCH -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:closeMatch Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035783 LEXMATCH -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:closeMatch Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:600975 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619273 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603448 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18020 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035819 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035819 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619273 LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603448 LEXMATCH -MONDO:0035821 isolated female hypospadias skos:closeMatch Orphanet:603515 Isolated female hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603515 LEXMATCH -MONDO:0035821 isolated female hypospadias skos:closeMatch Orphanet:603515 Isolated female hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22434 LEXMATCH -MONDO:0035821 isolated female hypospadias skos:closeMatch Orphanet:603515 Isolated female hypospadias semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035821 LEXMATCH -MONDO:0035821 isolated female hypospadias skos:closeMatch Orphanet:603515 Isolated female hypospadias semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035821 LEXMATCH -MONDO:0035821 isolated female hypospadias skos:closeMatch Orphanet:603515 Isolated female hypospadias semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603515 LEXMATCH -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:closeMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603689 LEXMATCH -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:closeMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22436 LEXMATCH -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:closeMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035823 LEXMATCH -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:closeMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035823 LEXMATCH -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:closeMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603689 LEXMATCH -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:closeMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:603694 LEXMATCH -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:closeMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22437 LEXMATCH -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:closeMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035824 LEXMATCH -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:closeMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035824 LEXMATCH -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:closeMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:603694 LEXMATCH -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:closeMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:604680 LEXMATCH -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:closeMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22439 LEXMATCH -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:closeMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035826 LEXMATCH -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:closeMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035826 LEXMATCH -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:closeMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:604680 LEXMATCH -MONDO:0035838 idiopathic multicentric Castleman disease skos:closeMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:570431 LEXMATCH -MONDO:0035838 idiopathic multicentric Castleman disease skos:closeMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22309 LEXMATCH -MONDO:0035838 idiopathic multicentric Castleman disease skos:closeMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035838 LEXMATCH -MONDO:0035838 idiopathic multicentric Castleman disease skos:closeMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035838 LEXMATCH -MONDO:0035838 idiopathic multicentric Castleman disease skos:closeMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:570431 LEXMATCH -MONDO:0035875 ivermectin toxicity skos:closeMatch Orphanet:574637 Prediction of ivermectin toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035875 LEXMATCH -MONDO:0035875 ivermectin toxicity skos:closeMatch Orphanet:574637 Prediction of ivermectin toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035875 LEXMATCH -MONDO:0035876 belinostat toxicity or dose selection skos:closeMatch Orphanet:574671 Prediction of toxicity or dose selection of belinostat semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035876 LEXMATCH -MONDO:0035876 belinostat toxicity or dose selection skos:closeMatch Orphanet:574671 Prediction of toxicity or dose selection of belinostat semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035876 LEXMATCH -MONDO:0035879 granuloma faciale skos:closeMatch Orphanet:615943 Granuloma faciale semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615943 LEXMATCH -MONDO:0035879 granuloma faciale skos:closeMatch Orphanet:615943 Granuloma faciale semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22442 LEXMATCH -MONDO:0035879 granuloma faciale skos:closeMatch Orphanet:615943 Granuloma faciale semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035879 LEXMATCH -MONDO:0035879 granuloma faciale skos:closeMatch Orphanet:615943 Granuloma faciale semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035879 LEXMATCH -MONDO:0035879 granuloma faciale skos:closeMatch Orphanet:615943 Granuloma faciale semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615943 LEXMATCH -MONDO:0035882 chronic intervillositis of unknown etiology skos:closeMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615970 LEXMATCH -MONDO:0035882 chronic intervillositis of unknown etiology skos:closeMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22443 LEXMATCH -MONDO:0035882 chronic intervillositis of unknown etiology skos:closeMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035882 LEXMATCH -MONDO:0035882 chronic intervillositis of unknown etiology skos:closeMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035882 LEXMATCH -MONDO:0035882 chronic intervillositis of unknown etiology skos:closeMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615970 LEXMATCH -MONDO:0035892 Mills syndrome skos:closeMatch Orphanet:94091 Mills syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:94091 LEXMATCH -MONDO:0035892 Mills syndrome skos:closeMatch Orphanet:94091 Mills syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19250 LEXMATCH -MONDO:0035892 Mills syndrome skos:closeMatch Orphanet:94091 Mills syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035892 LEXMATCH -MONDO:0035892 Mills syndrome skos:closeMatch Orphanet:94091 Mills syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035892 LEXMATCH -MONDO:0035892 Mills syndrome skos:closeMatch Orphanet:94091 Mills syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:94091 LEXMATCH -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:closeMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:583612 LEXMATCH -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:closeMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22337 LEXMATCH -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:closeMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035930 LEXMATCH -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:closeMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035930 LEXMATCH -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:closeMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:583612 LEXMATCH -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585909 LEXMATCH -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22342 LEXMATCH -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035940 LEXMATCH -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035940 LEXMATCH -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:closeMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585909 LEXMATCH -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:closeMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585918 LEXMATCH -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:closeMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22343 LEXMATCH -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:closeMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035941 LEXMATCH -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:closeMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035941 LEXMATCH -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:closeMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585918 LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:closeMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585929 LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:closeMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22344 LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:closeMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035942 LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:closeMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035942 LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:closeMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585929 LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:closeMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585936 LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:closeMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22345 LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:closeMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035943 LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:closeMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035943 LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:closeMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585936 LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:closeMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585942 LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:closeMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22346 LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:closeMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035944 LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:closeMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035944 LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:closeMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585942 LEXMATCH -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:closeMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585948 LEXMATCH -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:closeMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22347 LEXMATCH -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:closeMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0035945 LEXMATCH -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:closeMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0035945 LEXMATCH -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:closeMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585948 LEXMATCH -MONDO:0036025 toxicity to dolutegravir skos:closeMatch Orphanet:596744 Prediction of dolutegravir toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036025 LEXMATCH -MONDO:0036025 toxicity to dolutegravir skos:closeMatch Orphanet:596744 Prediction of dolutegravir toxicity semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036025 LEXMATCH -MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:closeMatch Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22399 LEXMATCH -MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:closeMatch Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036042 LEXMATCH -MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:closeMatch Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036042 LEXMATCH -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597939 LEXMATCH -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22401 LEXMATCH -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036045 LEXMATCH -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036045 LEXMATCH -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597939 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619318 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611201 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18024 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036189 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036189 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619318 LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611201 LEXMATCH -MONDO:0036192 EN1-related dorsoventral syndrome skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611223 LEXMATCH -MONDO:0036192 EN1-related dorsoventral syndrome skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18027 LEXMATCH -MONDO:0036192 EN1-related dorsoventral syndrome skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036192 LEXMATCH -MONDO:0036192 EN1-related dorsoventral syndrome skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036192 LEXMATCH -MONDO:0036192 EN1-related dorsoventral syndrome skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611223 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619279 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611237 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18028 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036193 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036193 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619279 LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611237 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619338 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615938 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18033 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036212 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036212 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619338 LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615938 LEXMATCH -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615983 LEXMATCH -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18036 LEXMATCH -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036217 LEXMATCH -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036217 LEXMATCH -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615983 LEXMATCH -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:615986 LEXMATCH -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18037 LEXMATCH -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036218 LEXMATCH -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036218 LEXMATCH -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:615986 LEXMATCH -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:closeMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99710 LEXMATCH -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:closeMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4603 LEXMATCH -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:closeMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0036918 LEXMATCH -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:closeMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0036918 LEXMATCH -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:closeMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99710 LEXMATCH -MONDO:0037149 HSD10 disease, atypical type skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85295 LEXMATCH -MONDO:0037149 HSD10 disease, atypical type skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16749 LEXMATCH -MONDO:0037149 HSD10 disease, atypical type skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0037149 LEXMATCH -MONDO:0037149 HSD10 disease, atypical type skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0037149 LEXMATCH -MONDO:0037149 HSD10 disease, atypical type skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85295 LEXMATCH -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:closeMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90066 LEXMATCH -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:closeMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13613 LEXMATCH -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:closeMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0037398 LEXMATCH -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:closeMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0037398 LEXMATCH -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:closeMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90066 LEXMATCH -MONDO:0037807 glycerol metabolism disease skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342762 LEXMATCH -MONDO:0037821 porphyrin metabolism disease skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of porphyrin and heme metabolism LEXMATCH -MONDO:0037829 purine metabolism disease skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 LEXMATCH -MONDO:0037937 pyrimidine metabolism disease skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 LEXMATCH -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617816 LEXMATCH -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22577 LEXMATCH -MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617816 LEXMATCH -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 LEXMATCH -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16256 LEXMATCH -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617821 LEXMATCH -MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617825 LEXMATCH -MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16257 LEXMATCH -MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617825 LEXMATCH -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617681 LEXMATCH -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16244 LEXMATCH -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617681 LEXMATCH -MONDO:0042233 disseminated candidiasis skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic candidiasis LEXMATCH -MONDO:0042233 disseminated candidiasis skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label invasive candidiasis LEXMATCH -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601228 LEXMATCH -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601228 LEXMATCH -MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202700 LEXMATCH -MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:202700 LEXMATCH -MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:202700 LEXMATCH -MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:202700 LEXMATCH -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 LEXMATCH -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:856 LEXMATCH -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601764 LEXMATCH -MONDO:0042727 sacrococcygeal teratoma skos:closeMatch Orphanet:494421 Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494421 LEXMATCH -MONDO:0042727 sacrococcygeal teratoma skos:closeMatch Orphanet:494421 Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:319 LEXMATCH -MONDO:0042727 sacrococcygeal teratoma skos:closeMatch Orphanet:494421 Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0042727 LEXMATCH -MONDO:0042727 sacrococcygeal teratoma skos:closeMatch Orphanet:494421 Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0042727 LEXMATCH -MONDO:0042727 sacrococcygeal teratoma skos:closeMatch Orphanet:494421 Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494421 LEXMATCH -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 LEXMATCH -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601606 LEXMATCH -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 LEXMATCH -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601606 LEXMATCH -MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170400 LEXMATCH -MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:170400 LEXMATCH -MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21947 LEXMATCH -MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043009 LEXMATCH -MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:closeMatch Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043009 LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931224 LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2547 LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3650 LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thomas-jewett-raines syndrome LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043143 LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043143 LEXMATCH -MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2547 LEXMATCH -MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931734 LEXMATCH -MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2184 LEXMATCH -MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4199 LEXMATCH -MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043164 LEXMATCH -MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043164 LEXMATCH -MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2184 LEXMATCH -MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263314 LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636955 LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fogo selvagem LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endemic pemphigus foliaceus LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043257 LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043257 LEXMATCH -MONDO:0043257 pemphigus and fogo selvagem skos:closeMatch Orphanet:636955 Endemic pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636955 LEXMATCH -MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:645617 Amyopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043317 LEXMATCH -MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:645617 Amyopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043317 LEXMATCH -MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 LEXMATCH -MONDO:0043330 Mirizzi syndrome skos:closeMatch Orphanet:521219 Mirizzi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521219 LEXMATCH -MONDO:0043330 Mirizzi syndrome skos:closeMatch Orphanet:521219 Mirizzi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10177 LEXMATCH -MONDO:0043330 Mirizzi syndrome skos:closeMatch Orphanet:521219 Mirizzi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043330 LEXMATCH -MONDO:0043330 Mirizzi syndrome skos:closeMatch Orphanet:521219 Mirizzi syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043330 LEXMATCH -MONDO:0043330 Mirizzi syndrome skos:closeMatch Orphanet:521219 Mirizzi syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521219 LEXMATCH -MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90059 LEXMATCH -MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12927 LEXMATCH -MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043373 LEXMATCH -MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043373 LEXMATCH -MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90059 LEXMATCH -MONDO:0043459 radiation-induced disorder skos:closeMatch Orphanet:521132 Radiation-induced disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22139 LEXMATCH -MONDO:0043459 radiation-induced disorder skos:closeMatch Orphanet:521132 Radiation-induced disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043459 LEXMATCH -MONDO:0043459 radiation-induced disorder skos:closeMatch Orphanet:521132 Radiation-induced disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043459 LEXMATCH -MONDO:0043510 brain injury skos:closeMatch Orphanet:90056 Moderate and severe traumatic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90056 LEXMATCH -MONDO:0043510 brain injury skos:closeMatch Orphanet:90056 Moderate and severe traumatic brain injury semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043510 LEXMATCH -MONDO:0043510 brain injury skos:closeMatch Orphanet:90056 Moderate and severe traumatic brain injury semapv:LexicalMatching oaklib 0.5 rdf:ID skos:narrowMatch-INVERSE mondo:0043510 LEXMATCH -MONDO:0043510 brain injury skos:closeMatch Orphanet:90056 Moderate and severe traumatic brain injury semapv:LexicalMatching oaklib 0.5 skos:narrowMatch rdf:ID orphanet:90056 LEXMATCH -MONDO:0043797 spinal cord injury skos:closeMatch Orphanet:90058 Spinal cord injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:90058 LEXMATCH -MONDO:0043797 spinal cord injury skos:closeMatch Orphanet:90058 Spinal cord injury semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19109 LEXMATCH -MONDO:0043797 spinal cord injury skos:closeMatch Orphanet:90058 Spinal cord injury semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0043797 LEXMATCH -MONDO:0043797 spinal cord injury skos:closeMatch Orphanet:90058 Spinal cord injury semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0043797 LEXMATCH -MONDO:0043797 spinal cord injury skos:closeMatch Orphanet:90058 Spinal cord injury semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:90058 LEXMATCH -MONDO:0044067 candidiasis, invasive skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:636945 LEXMATCH -MONDO:0044067 candidiasis, invasive skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044067 LEXMATCH -MONDO:0044067 candidiasis, invasive skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044067 LEXMATCH -MONDO:0044067 candidiasis, invasive skos:closeMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:636945 LEXMATCH -MONDO:0044200 T-B+ severe combined immunodeficiency skos:closeMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:317416 LEXMATCH -MONDO:0044200 T-B+ severe combined immunodeficiency skos:closeMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21405 LEXMATCH -MONDO:0044200 T-B+ severe combined immunodeficiency skos:closeMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044200 LEXMATCH -MONDO:0044200 T-B+ severe combined immunodeficiency skos:closeMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044200 LEXMATCH -MONDO:0044200 T-B+ severe combined immunodeficiency skos:closeMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:317416 LEXMATCH -MONDO:0044201 T+ B+ severe combined immunodeficiency skos:closeMatch Orphanet:397802 T+ B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21636 LEXMATCH -MONDO:0044201 T+ B+ severe combined immunodeficiency skos:closeMatch Orphanet:397802 T+ B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044201 LEXMATCH -MONDO:0044201 T+ B+ severe combined immunodeficiency skos:closeMatch Orphanet:397802 T+ B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044201 LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98809 LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8721 LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044202 LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044202 LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98809 LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260400 LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15221 LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:260400 LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260400 LEXMATCH -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:260400 LEXMATCH -MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617941 LEXMATCH -MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16272 LEXMATCH -MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617941 LEXMATCH -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215150 LEXMATCH -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:215150 LEXMATCH -MONDO:0044207 specific granule deficiency 1 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245480 LEXMATCH -MONDO:0044207 specific granule deficiency 1 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245480 LEXMATCH -MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617475 LEXMATCH -MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617475 LEXMATCH -MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617475 LEXMATCH -MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617475 LEXMATCH -MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616224 LEXMATCH -MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616224 LEXMATCH -MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617100 LEXMATCH -MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:480536 LEXMATCH -MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044300 LEXMATCH -MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617100 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617360 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:646278 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044302 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044302 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617360 LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:646278 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617384 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:508523 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17950 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044304 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044304 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617384 LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:508523 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617393 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500545 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17930 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044306 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044306 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617393 LEXMATCH -MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500545 LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16226 LEXMATCH -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617406 LEXMATCH -MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617408 LEXMATCH -MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16227 LEXMATCH -MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617408 LEXMATCH -MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617409 LEXMATCH -MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16228 LEXMATCH -MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617409 LEXMATCH -MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617433 LEXMATCH -MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16229 LEXMATCH -MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617433 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617452 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505237 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17942 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044319 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044319 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617452 LEXMATCH -MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505237 LEXMATCH -MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617460 LEXMATCH -MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16231 LEXMATCH -MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617460 LEXMATCH -MONDO:0044323 Rahman syndrome skos:closeMatch Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044323 LEXMATCH -MONDO:0044323 Rahman syndrome skos:closeMatch Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044323 LEXMATCH -MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617836 LEXMATCH -MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:442835 LEXMATCH -MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16261 LEXMATCH -MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044326 LEXMATCH -MONDO:0044326 developmental delay and seizures with or without movement abnormalities skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617836 LEXMATCH -MONDO:0044330 hyperekplexia 4 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618011 LEXMATCH -MONDO:0044330 hyperekplexia 4 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16284 LEXMATCH -MONDO:0044330 hyperekplexia 4 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618011 LEXMATCH -MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494541 LEXMATCH -MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17906 LEXMATCH -MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044332 LEXMATCH -MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044332 LEXMATCH -MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:closeMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494541 LEXMATCH -MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600166 LEXMATCH -MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18254 LEXMATCH -MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600166 LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020499 LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178311 LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20144 LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044355 LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044355 LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178311 LEXMATCH -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3200 LEXMATCH -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5029 LEXMATCH -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044406 LEXMATCH -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044406 LEXMATCH -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3200 LEXMATCH -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:closeMatch Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21990 LEXMATCH -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:closeMatch Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044617 LEXMATCH -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:closeMatch Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044617 LEXMATCH -MONDO:0044619 propylthiouracil embryofetopathy skos:closeMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485358 LEXMATCH -MONDO:0044619 propylthiouracil embryofetopathy skos:closeMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21991 LEXMATCH -MONDO:0044619 propylthiouracil embryofetopathy skos:closeMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044619 LEXMATCH -MONDO:0044619 propylthiouracil embryofetopathy skos:closeMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044619 LEXMATCH -MONDO:0044619 propylthiouracil embryofetopathy skos:closeMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485358 LEXMATCH -MONDO:0044621 16p12.1p12.3 triplication syndrome skos:closeMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485405 LEXMATCH -MONDO:0044621 16p12.1p12.3 triplication syndrome skos:closeMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21993 LEXMATCH -MONDO:0044621 16p12.1p12.3 triplication syndrome skos:closeMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044621 LEXMATCH -MONDO:0044621 16p12.1p12.3 triplication syndrome skos:closeMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044621 LEXMATCH -MONDO:0044621 16p12.1p12.3 triplication syndrome skos:closeMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485405 LEXMATCH -MONDO:0044622 EMILIN-1-related connective tissue disease skos:closeMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:485418 LEXMATCH -MONDO:0044622 EMILIN-1-related connective tissue disease skos:closeMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21994 LEXMATCH -MONDO:0044622 EMILIN-1-related connective tissue disease skos:closeMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044622 LEXMATCH -MONDO:0044622 EMILIN-1-related connective tissue disease skos:closeMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044622 LEXMATCH -MONDO:0044622 EMILIN-1-related connective tissue disease skos:closeMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:485418 LEXMATCH -MONDO:0044624 pediatric collagenous gastritis skos:closeMatch Orphanet:487809 Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:487809 LEXMATCH -MONDO:0044624 pediatric collagenous gastritis skos:closeMatch Orphanet:487809 Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21998 LEXMATCH -MONDO:0044624 pediatric collagenous gastritis skos:closeMatch Orphanet:487809 Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044624 LEXMATCH -MONDO:0044624 pediatric collagenous gastritis skos:closeMatch Orphanet:487809 Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044624 LEXMATCH -MONDO:0044624 pediatric collagenous gastritis skos:closeMatch Orphanet:487809 Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:487809 LEXMATCH -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:closeMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:487814 LEXMATCH -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:closeMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21999 LEXMATCH -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:closeMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044625 LEXMATCH -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:closeMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044625 LEXMATCH -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:closeMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:487814 LEXMATCH -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488191 LEXMATCH -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17887 LEXMATCH -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044626 LEXMATCH -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044626 LEXMATCH -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488191 LEXMATCH -MONDO:0044627 acute macular neuroretinopathy skos:closeMatch Orphanet:488239 Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488239 LEXMATCH -MONDO:0044627 acute macular neuroretinopathy skos:closeMatch Orphanet:488239 Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22000 LEXMATCH -MONDO:0044627 acute macular neuroretinopathy skos:closeMatch Orphanet:488239 Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044627 LEXMATCH -MONDO:0044627 acute macular neuroretinopathy skos:closeMatch Orphanet:488239 Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044627 LEXMATCH -MONDO:0044627 acute macular neuroretinopathy skos:closeMatch Orphanet:488239 Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488239 LEXMATCH -MONDO:0044628 six2-related frontonasal dysplasia skos:closeMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488437 LEXMATCH -MONDO:0044628 six2-related frontonasal dysplasia skos:closeMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22001 LEXMATCH -MONDO:0044628 six2-related frontonasal dysplasia skos:closeMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044628 LEXMATCH -MONDO:0044628 six2-related frontonasal dysplasia skos:closeMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044628 LEXMATCH -MONDO:0044628 six2-related frontonasal dysplasia skos:closeMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488437 LEXMATCH -MONDO:0044629 congenital amyoplasia skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:488586 LEXMATCH -MONDO:0044629 congenital amyoplasia skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22002 LEXMATCH -MONDO:0044629 congenital amyoplasia skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044629 LEXMATCH -MONDO:0044629 congenital amyoplasia skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044629 LEXMATCH -MONDO:0044629 congenital amyoplasia skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:488586 LEXMATCH -MONDO:0044632 extracranial carotid artery aneurysm skos:closeMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494424 LEXMATCH -MONDO:0044632 extracranial carotid artery aneurysm skos:closeMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22003 LEXMATCH -MONDO:0044632 extracranial carotid artery aneurysm skos:closeMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044632 LEXMATCH -MONDO:0044632 extracranial carotid artery aneurysm skos:closeMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044632 LEXMATCH -MONDO:0044632 extracranial carotid artery aneurysm skos:closeMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494424 LEXMATCH -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:closeMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494428 LEXMATCH -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:closeMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22004 LEXMATCH -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:closeMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044633 LEXMATCH -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:closeMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044633 LEXMATCH -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:closeMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494428 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617763 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494439 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17903 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044634 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044634 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617763 LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494439 LEXMATCH -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494444 LEXMATCH -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17904 LEXMATCH -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044635 LEXMATCH -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044635 LEXMATCH -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494444 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616921 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494526 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17905 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044637 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044637 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616921 LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:closeMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494526 LEXMATCH -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:494547 LEXMATCH -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17907 LEXMATCH -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the hypopharynx LEXMATCH -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044638 LEXMATCH -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044638 LEXMATCH -MONDO:0044638 hypopharynx squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:494547 LEXMATCH -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495274 LEXMATCH -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17909 LEXMATCH -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044640 LEXMATCH -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044640 LEXMATCH -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495274 LEXMATCH -MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:closeMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495818 LEXMATCH -MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:closeMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22009 LEXMATCH -MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:closeMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044641 LEXMATCH -MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:closeMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044641 LEXMATCH -MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:closeMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495818 LEXMATCH -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495844 LEXMATCH -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17910 LEXMATCH -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044642 LEXMATCH -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044642 LEXMATCH -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495844 LEXMATCH -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:closeMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495875 LEXMATCH -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:closeMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22010 LEXMATCH -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:closeMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044643 LEXMATCH -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:closeMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044643 LEXMATCH -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:closeMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495875 LEXMATCH -MONDO:0044644 congenital agenesis of the scrotum skos:closeMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495879 LEXMATCH -MONDO:0044644 congenital agenesis of the scrotum skos:closeMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22011 LEXMATCH -MONDO:0044644 congenital agenesis of the scrotum skos:closeMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044644 LEXMATCH -MONDO:0044644 congenital agenesis of the scrotum skos:closeMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044644 LEXMATCH -MONDO:0044644 congenital agenesis of the scrotum skos:closeMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495879 LEXMATCH -MONDO:0044645 familial monosomy 7 syndrome skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:495930 LEXMATCH -MONDO:0044645 familial monosomy 7 syndrome skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3765 LEXMATCH -MONDO:0044645 familial monosomy 7 syndrome skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044645 LEXMATCH -MONDO:0044645 familial monosomy 7 syndrome skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044645 LEXMATCH -MONDO:0044645 familial monosomy 7 syndrome skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:495930 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617193 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496641 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17911 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617193 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044646 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044646 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617193 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496641 LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:closeMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617193 LEXMATCH -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496686 LEXMATCH -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17912 LEXMATCH -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044647 LEXMATCH -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044647 LEXMATCH -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:closeMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496686 LEXMATCH -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:closeMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496689 LEXMATCH -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:closeMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22012 LEXMATCH -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:closeMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044648 LEXMATCH -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:closeMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044648 LEXMATCH -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:closeMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496689 LEXMATCH -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496693 LEXMATCH -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10354 LEXMATCH -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044649 LEXMATCH -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044649 LEXMATCH -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496693 LEXMATCH -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:496756 LEXMATCH -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17914 LEXMATCH -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044651 LEXMATCH -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044651 LEXMATCH -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:496756 LEXMATCH -MONDO:0044656 epidermolytic nevus skos:closeMatch Orphanet:497737 Epidermolytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:497737 LEXMATCH -MONDO:0044656 epidermolytic nevus skos:closeMatch Orphanet:497737 Epidermolytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22016 LEXMATCH -MONDO:0044656 epidermolytic nevus skos:closeMatch Orphanet:497737 Epidermolytic nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044656 LEXMATCH -MONDO:0044656 epidermolytic nevus skos:closeMatch Orphanet:497737 Epidermolytic nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044656 LEXMATCH -MONDO:0044656 epidermolytic nevus skos:closeMatch Orphanet:497737 Epidermolytic nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:497737 LEXMATCH -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:497757 LEXMATCH -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17916 LEXMATCH -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044657 LEXMATCH -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044657 LEXMATCH -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:497757 LEXMATCH -MONDO:0044660 menstrual cycle-dependent periodic fever skos:closeMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498251 LEXMATCH -MONDO:0044660 menstrual cycle-dependent periodic fever skos:closeMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22017 LEXMATCH -MONDO:0044660 menstrual cycle-dependent periodic fever skos:closeMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044660 LEXMATCH -MONDO:0044660 menstrual cycle-dependent periodic fever skos:closeMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044660 LEXMATCH -MONDO:0044660 menstrual cycle-dependent periodic fever skos:closeMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498251 LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498359 LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12991 LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient reactive papulotranslucent acrokeratoderma LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044663 LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044663 LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:closeMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498359 LEXMATCH -MONDO:0044675 LRP5-related primary osteoporosis skos:closeMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498481 LEXMATCH -MONDO:0044675 LRP5-related primary osteoporosis skos:closeMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22031 LEXMATCH -MONDO:0044675 LRP5-related primary osteoporosis skos:closeMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044675 LEXMATCH -MONDO:0044675 LRP5-related primary osteoporosis skos:closeMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044675 LEXMATCH -MONDO:0044675 LRP5-related primary osteoporosis skos:closeMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498481 LEXMATCH -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:closeMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:498693 LEXMATCH -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:closeMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22035 LEXMATCH -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:closeMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044682 LEXMATCH -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:closeMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044682 LEXMATCH -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:closeMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:498693 LEXMATCH -MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:closeMatch Orphanet:499047 Autoimmune/inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22037 LEXMATCH -MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:closeMatch Orphanet:499047 Autoimmune/inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044685 LEXMATCH -MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:closeMatch Orphanet:499047 Autoimmune/inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044685 LEXMATCH -MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:closeMatch Orphanet:499085 Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499085 LEXMATCH -MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:closeMatch Orphanet:499085 Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22038 LEXMATCH -MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:closeMatch Orphanet:499085 Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044687 LEXMATCH -MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:closeMatch Orphanet:499085 Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044687 LEXMATCH -MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:closeMatch Orphanet:499085 Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499085 LEXMATCH -MONDO:0044688 isolated optic neuritis skos:closeMatch Orphanet:499096 Isolated optic neuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499096 LEXMATCH -MONDO:0044688 isolated optic neuritis skos:closeMatch Orphanet:499096 Isolated optic neuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22039 LEXMATCH -MONDO:0044688 isolated optic neuritis skos:closeMatch Orphanet:499096 Isolated optic neuritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044688 LEXMATCH -MONDO:0044688 isolated optic neuritis skos:closeMatch Orphanet:499096 Isolated optic neuritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044688 LEXMATCH -MONDO:0044688 isolated optic neuritis skos:closeMatch Orphanet:499096 Isolated optic neuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499096 LEXMATCH -MONDO:0044689 recurrent idiopathic neuroretinitis skos:closeMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499103 LEXMATCH -MONDO:0044689 recurrent idiopathic neuroretinitis skos:closeMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22040 LEXMATCH -MONDO:0044689 recurrent idiopathic neuroretinitis skos:closeMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044689 LEXMATCH -MONDO:0044689 recurrent idiopathic neuroretinitis skos:closeMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044689 LEXMATCH -MONDO:0044689 recurrent idiopathic neuroretinitis skos:closeMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499103 LEXMATCH -MONDO:0044690 optic perineuritis skos:closeMatch Orphanet:499107 Idiopathic optic perineuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:499107 LEXMATCH -MONDO:0044690 optic perineuritis skos:closeMatch Orphanet:499107 Idiopathic optic perineuritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22041 LEXMATCH -MONDO:0044690 optic perineuritis skos:closeMatch Orphanet:499107 Idiopathic optic perineuritis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044690 LEXMATCH -MONDO:0044690 optic perineuritis skos:closeMatch Orphanet:499107 Idiopathic optic perineuritis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044690 LEXMATCH -MONDO:0044690 optic perineuritis skos:closeMatch Orphanet:499107 Idiopathic optic perineuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:499107 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617669 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500144 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17923 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044696 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044696 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617669 LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500144 LEXMATCH -MONDO:0044699 SIN3A-related intellectual disability syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500163 LEXMATCH -MONDO:0044699 SIN3A-related intellectual disability syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22043 LEXMATCH -MONDO:0044699 SIN3A-related intellectual disability syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044699 LEXMATCH -MONDO:0044699 SIN3A-related intellectual disability syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044699 LEXMATCH -MONDO:0044699 SIN3A-related intellectual disability syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500163 LEXMATCH -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500166 LEXMATCH -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17925 LEXMATCH -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044700 LEXMATCH -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044700 LEXMATCH -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500166 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500180 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13658 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044701 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044701 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617672 LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500180 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301018 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500188 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17926 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044702 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044702 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301018 LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500188 LEXMATCH -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500478 LEXMATCH -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17928 LEXMATCH -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the oropharynx LEXMATCH -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044704 LEXMATCH -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044704 LEXMATCH -MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500478 LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500464 LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17927 LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the nasal cavity and paranasal sinuses LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044705 LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044705 LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500464 LEXMATCH -MONDO:0044709 cochleovestibular dysplasia skos:closeMatch Orphanet:502305 Cochleovestibular malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502305 LEXMATCH -MONDO:0044709 cochleovestibular dysplasia skos:closeMatch Orphanet:502305 Cochleovestibular malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22044 LEXMATCH -MONDO:0044709 cochleovestibular dysplasia skos:closeMatch Orphanet:502305 Cochleovestibular malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044709 LEXMATCH -MONDO:0044709 cochleovestibular dysplasia skos:closeMatch Orphanet:502305 Cochleovestibular malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044709 LEXMATCH -MONDO:0044709 cochleovestibular dysplasia skos:closeMatch Orphanet:502305 Cochleovestibular malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502305 LEXMATCH -MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22046 LEXMATCH -MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of oral cavity and lip LEXMATCH -MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044710 LEXMATCH -MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044710 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617675 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502423 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17934 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617675 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044714 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044714 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617675 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502423 LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617675 LEXMATCH -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:closeMatch Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502430 LEXMATCH -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:closeMatch Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22047 LEXMATCH -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:closeMatch Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044715 LEXMATCH -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:closeMatch Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044715 LEXMATCH -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:closeMatch Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502430 LEXMATCH -MONDO:0044717 4q25 proximal deletion syndrome skos:closeMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502437 LEXMATCH -MONDO:0044717 4q25 proximal deletion syndrome skos:closeMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22048 LEXMATCH -MONDO:0044717 4q25 proximal deletion syndrome skos:closeMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044717 LEXMATCH -MONDO:0044717 4q25 proximal deletion syndrome skos:closeMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044717 LEXMATCH -MONDO:0044717 4q25 proximal deletion syndrome skos:closeMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502437 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617762 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502444 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17936 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044718 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044718 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617762 LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502444 LEXMATCH -MONDO:0044719 erythema multiforme major skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:502499 LEXMATCH -MONDO:0044719 erythema multiforme major skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22049 LEXMATCH -MONDO:0044719 erythema multiforme major skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044719 LEXMATCH -MONDO:0044719 erythema multiforme major skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044719 LEXMATCH -MONDO:0044719 erythema multiforme major skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:502499 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614575 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:504476 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17937 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614575 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044720 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044720 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614575 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:504476 LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:closeMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614575 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617514 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:504523 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17938 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044721 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044721 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617514 LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:closeMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:504523 LEXMATCH -MONDO:0044723 3-methylglutaconic aciduria type 8 skos:closeMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505208 LEXMATCH -MONDO:0044723 3-methylglutaconic aciduria type 8 skos:closeMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22050 LEXMATCH -MONDO:0044723 3-methylglutaconic aciduria type 8 skos:closeMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044723 LEXMATCH -MONDO:0044723 3-methylglutaconic aciduria type 8 skos:closeMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044723 LEXMATCH -MONDO:0044723 3-methylglutaconic aciduria type 8 skos:closeMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505208 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617698 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505216 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17940 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617698 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044724 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044724 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617698 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505216 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:closeMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617698 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505227 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17941 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044725 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044725 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617827 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505227 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617595 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:505242 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17943 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617595 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044726 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044726 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617595 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:505242 LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617595 LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:closeMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506112 LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:closeMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22057 LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:closeMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044727 LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:closeMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044727 LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:closeMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506112 LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506353 LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17946 LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044737 LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044737 LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506353 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506358 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17947 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044738 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044738 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617557 LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506358 LEXMATCH -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:closeMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:506784 LEXMATCH -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:closeMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22066 LEXMATCH -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:closeMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044739 LEXMATCH -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:closeMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044739 LEXMATCH -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:closeMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:506784 LEXMATCH -MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500481 LEXMATCH -MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17929 LEXMATCH -MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of salivary glands LEXMATCH -MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044740 LEXMATCH -MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044740 LEXMATCH -MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500481 LEXMATCH -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:512103 LEXMATCH -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22074 LEXMATCH -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044742 LEXMATCH -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044742 LEXMATCH -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:512103 LEXMATCH -MONDO:0044749 X-linked congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:215 LEXMATCH -MONDO:0044749 X-linked congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044749 LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334968 LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:86893 LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19079 LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044778 LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044778 LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:86893 LEXMATCH -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:closeMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529852 LEXMATCH -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:closeMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22200 LEXMATCH -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:closeMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044791 LEXMATCH -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:closeMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044791 LEXMATCH -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:closeMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529852 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137550 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:626 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2469 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital melanocytic nevus LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044792 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044792 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137550 LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:626 LEXMATCH -MONDO:0044807 inherited dystonia skos:closeMatch Orphanet:391799 Rare genetic dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:21630 LEXMATCH -MONDO:0044807 inherited dystonia skos:closeMatch Orphanet:391799 Rare genetic dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044807 LEXMATCH -MONDO:0044807 inherited dystonia skos:closeMatch Orphanet:391799 Rare genetic dystonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044807 LEXMATCH -MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH -MONDO:0044877 paraneoplastic cerebellar degeneration skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:623626 LEXMATCH -MONDO:0044877 paraneoplastic cerebellar degeneration skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22493 LEXMATCH -MONDO:0044877 paraneoplastic cerebellar degeneration skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0044877 LEXMATCH -MONDO:0044877 paraneoplastic cerebellar degeneration skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0044877 LEXMATCH -MONDO:0044877 paraneoplastic cerebellar degeneration skos:closeMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:623626 LEXMATCH -MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 LEXMATCH -MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22698 LEXMATCH -MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301013 LEXMATCH -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 LEXMATCH -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617370 LEXMATCH -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 LEXMATCH -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617370 LEXMATCH -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 LEXMATCH -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617370 LEXMATCH -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608805 LEXMATCH -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608805 LEXMATCH -MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617383 LEXMATCH -MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617383 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617395 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:435934 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17720 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054559 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054559 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617395 LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:435934 LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607095 LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607095 LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607095 LEXMATCH -MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617396 LEXMATCH -MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617396 LEXMATCH -MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617405 LEXMATCH -MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617405 LEXMATCH -MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617443 LEXMATCH -MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16230 LEXMATCH -MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617443 LEXMATCH -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107480 LEXMATCH -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome LEXMATCH -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome LEXMATCH -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:107480 LEXMATCH -MONDO:0054582 Townes-Brocks syndrome 2 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617466 LEXMATCH -MONDO:0054582 Townes-Brocks syndrome 2 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617466 LEXMATCH -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 LEXMATCH -MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617506 LEXMATCH -MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617520 LEXMATCH -MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16233 LEXMATCH -MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617520 LEXMATCH -MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617542 LEXMATCH -MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16234 LEXMATCH -MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617542 LEXMATCH -MONDO:0054615 spermatogenic failure 18 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617576 LEXMATCH -MONDO:0054615 spermatogenic failure 18 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18402 LEXMATCH -MONDO:0054615 spermatogenic failure 18 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617576 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617616 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:513456 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17953 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054636 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054636 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617616 LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:513456 LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607721 LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607721 LEXMATCH -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607721 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:611247 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18029 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054669 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054669 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617695 LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:611247 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617719 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647676 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054680 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054680 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617719 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:closeMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647676 LEXMATCH -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 LEXMATCH -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16250 LEXMATCH -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617760 LEXMATCH -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256040 LEXMATCH -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:3916 LEXMATCH -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:256040 LEXMATCH -MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 LEXMATCH -MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18446 LEXMATCH -MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617591 LEXMATCH -MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 LEXMATCH -MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18447 LEXMATCH -MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618048 LEXMATCH -MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617768 LEXMATCH -MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18382 LEXMATCH -MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617768 LEXMATCH -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617781 LEXMATCH -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16252 LEXMATCH -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617781 LEXMATCH -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617800 LEXMATCH -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16253 LEXMATCH -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617800 LEXMATCH -MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617809 LEXMATCH -MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16255 LEXMATCH -MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617809 LEXMATCH -MONDO:0054723 spermatogenic failure 19 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617592 LEXMATCH -MONDO:0054723 spermatogenic failure 19 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18403 LEXMATCH -MONDO:0054723 spermatogenic failure 19 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617592 LEXMATCH -MONDO:0054724 spermatogenic failure 20 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617593 LEXMATCH -MONDO:0054724 spermatogenic failure 20 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18404 LEXMATCH -MONDO:0054724 spermatogenic failure 20 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617593 LEXMATCH -MONDO:0054726 spermatogenic failure 22 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617706 LEXMATCH -MONDO:0054726 spermatogenic failure 22 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16245 LEXMATCH -MONDO:0054726 spermatogenic failure 22 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617706 LEXMATCH -MONDO:0054727 spermatogenic failure 23 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617707 LEXMATCH -MONDO:0054727 spermatogenic failure 23 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16246 LEXMATCH -MONDO:0054727 spermatogenic failure 23 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617707 LEXMATCH -MONDO:0054729 spermatogenic failure 25 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617960 LEXMATCH -MONDO:0054729 spermatogenic failure 25 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16274 LEXMATCH -MONDO:0054729 spermatogenic failure 25 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617960 LEXMATCH -MONDO:0054731 spermatogenic failure 27 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617965 LEXMATCH -MONDO:0054731 spermatogenic failure 27 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18405 LEXMATCH -MONDO:0054731 spermatogenic failure 27 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617965 LEXMATCH -MONDO:0054732 spermatogenic failure 28 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618086 LEXMATCH -MONDO:0054732 spermatogenic failure 28 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16290 LEXMATCH -MONDO:0054732 spermatogenic failure 28 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618086 LEXMATCH -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617598 LEXMATCH -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16240 LEXMATCH -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617598 LEXMATCH -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219000 LEXMATCH -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome LEXMATCH -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome LEXMATCH -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219000 LEXMATCH -MONDO:0054738 Fraser syndrome 2 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617666 LEXMATCH -MONDO:0054738 Fraser syndrome 2 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617666 LEXMATCH -MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617667 LEXMATCH -MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617667 LEXMATCH -MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617667 LEXMATCH -MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617667 LEXMATCH -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119580 LEXMATCH -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome LEXMATCH -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome LEXMATCH -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome LEXMATCH -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:119580 LEXMATCH -MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617872 LEXMATCH -MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617872 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16264 LEXMATCH -MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617883 LEXMATCH -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 LEXMATCH -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16265 LEXMATCH -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617892 LEXMATCH -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617892 LEXMATCH -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617892 LEXMATCH -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617900 LEXMATCH -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16267 LEXMATCH -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617900 LEXMATCH -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617914 LEXMATCH -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16268 LEXMATCH -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617914 LEXMATCH -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 LEXMATCH -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica LEXMATCH -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617920 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617927 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617927 LEXMATCH -MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617948 LEXMATCH -MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16273 LEXMATCH -MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617948 LEXMATCH -MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617948 LEXMATCH -MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617948 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617954 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:569290 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18004 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054785 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054785 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617954 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:569290 LEXMATCH -MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617983 LEXMATCH -MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16278 LEXMATCH -MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617983 LEXMATCH -MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617984 LEXMATCH -MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16279 LEXMATCH -MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617984 LEXMATCH -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617985 LEXMATCH -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16280 LEXMATCH -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617985 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:536532 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17975 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054813 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054813 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618000 LEXMATCH -MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:536532 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16287 LEXMATCH -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618027 LEXMATCH -MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 LEXMATCH -MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18215 LEXMATCH -MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618031 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618036 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521414 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17959 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054833 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054833 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618036 LEXMATCH -MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521414 LEXMATCH -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 LEXMATCH -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 LEXMATCH -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613135 LEXMATCH -MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618049 LEXMATCH -MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618049 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618061 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618061 LEXMATCH -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 LEXMATCH -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16288 LEXMATCH -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618063 LEXMATCH -MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618065 LEXMATCH -MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16289 LEXMATCH -MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618065 LEXMATCH -MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618067 LEXMATCH -MONDO:0054845 developmental and epileptic encephalopathy, 66 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618067 LEXMATCH -MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618078 LEXMATCH -MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18042 LEXMATCH -MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618078 LEXMATCH -MONDO:0054852 peeling skin syndrome 6 skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618084 LEXMATCH -MONDO:0054852 peeling skin syndrome 6 skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618084 LEXMATCH -MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618094 LEXMATCH -MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18150 LEXMATCH -MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618094 LEXMATCH -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 LEXMATCH -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16475 LEXMATCH -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618095 LEXMATCH -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:closeMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:527276 LEXMATCH -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:closeMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22192 LEXMATCH -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:closeMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0054865 LEXMATCH -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:closeMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0054865 LEXMATCH -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:closeMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:527276 LEXMATCH -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 LEXMATCH -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:8406 LEXMATCH -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:305700 LEXMATCH -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:305700 LEXMATCH -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:305700 LEXMATCH -MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617523 LEXMATCH -MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617523 LEXMATCH -MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302700 LEXMATCH -MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:302700 LEXMATCH -MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 LEXMATCH -MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18566 LEXMATCH -MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617468 LEXMATCH -MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617468 LEXMATCH -MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617468 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617481 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:544469 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17985 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060490 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060490 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617481 LEXMATCH -MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:544469 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16232 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617493 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617493 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617493 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 LEXMATCH -MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617493 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617527 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:521426 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17960 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617527 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060502 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060502 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617527 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:521426 LEXMATCH -MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies skos:closeMatch Orphanet:521426 PLAA-associated neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617527 LEXMATCH -MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617561 LEXMATCH -MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16235 LEXMATCH -MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617561 LEXMATCH -MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617561 LEXMATCH -MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617561 LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617602 LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:643503 LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060532 LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060532 LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617602 LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:closeMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:643503 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617604 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572773 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18655 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060533 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060533 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617604 LEXMATCH -MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572773 LEXMATCH -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617660 LEXMATCH -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18508 LEXMATCH -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617660 LEXMATCH -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617660 LEXMATCH -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617660 LEXMATCH -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617661 LEXMATCH -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18509 LEXMATCH -MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617661 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617662 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:527450 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17963 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060556 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060556 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617662 LEXMATCH -MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:527450 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617671 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:528105 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17967 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060564 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060564 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617671 LEXMATCH -MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:528105 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617682 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529965 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17970 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060568 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060568 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617682 LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529965 LEXMATCH -MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617709 LEXMATCH -MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:22576 LEXMATCH -MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617709 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617710 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:572798 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18012 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060578 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060578 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617710 LEXMATCH -MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:572798 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617717 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:542585 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17983 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060582 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060582 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617717 LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:542585 LEXMATCH -MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617744 LEXMATCH -MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617744 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:528084 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18513 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17965 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060596 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060596 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617755 LEXMATCH -MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:528084 LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617804 LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647788 LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060622 LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060622 LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617804 LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:closeMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647788 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617810 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:529665 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17969 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060627 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060627 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617810 LEXMATCH -MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:529665 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617822 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:610569 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18022 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060631 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060631 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617822 LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:610569 LEXMATCH -MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617903 LEXMATCH -MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617903 LEXMATCH -MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617924 LEXMATCH -MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16269 LEXMATCH -MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617924 LEXMATCH -MONDO:0060690 phenytoin toxicity skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617982 LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:580940 LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18015 LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060707 LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060707 LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617982 LEXMATCH -MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:580940 LEXMATCH -MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617993 LEXMATCH -MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16281 LEXMATCH -MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617993 LEXMATCH -MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617993 LEXMATCH -MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617993 LEXMATCH -MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617994 LEXMATCH -MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16282 LEXMATCH -MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:617994 LEXMATCH -MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617994 LEXMATCH -MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:617994 LEXMATCH -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 LEXMATCH -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16286 LEXMATCH -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618021 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:597623 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22396 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0060759 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0060759 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618088 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:597623 LEXMATCH -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273395 LEXMATCH -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15238 LEXMATCH -MONDO:0060764 tetraamelia syndrome 1 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273395 LEXMATCH -MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 LEXMATCH -MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18259 LEXMATCH -MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300909 LEXMATCH -MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 LEXMATCH -MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300909 LEXMATCH -MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 LEXMATCH -MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032027 LEXMATCH -MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115080 LEXMATCH -MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:871 LEXMATCH -MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100042 LEXMATCH -MONDO:0100042 cardiac conduction defect skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:115080 LEXMATCH -MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201180 LEXMATCH -MONDO:0100044 acrofrontofacionasal dysostosis 1 skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:201180 LEXMATCH -MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226400 LEXMATCH -MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:226400 LEXMATCH -MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 LEXMATCH -MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614395 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071545 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1934 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9255 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100062 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100062 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1934 LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 LEXMATCH -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607208 LEXMATCH -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:607208 LEXMATCH -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome LEXMATCH -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607208 LEXMATCH -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:607208 LEXMATCH -MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151100 LEXMATCH -MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:151100 LEXMATCH -MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:151100 LEXMATCH -MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:151100 LEXMATCH -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601399 LEXMATCH -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15329 LEXMATCH -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thrombocytopenia with propensity to acute myelogenous leukemia LEXMATCH -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601399 LEXMATCH -MONDO:0100093 myoclonus, familial, 1 skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614937 LEXMATCH -MONDO:0100093 myoclonus, familial, 1 skos:closeMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614937 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208150 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:994 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9634 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:208150 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100101 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100101 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:208150 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:994 LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:208150 LEXMATCH -MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618388 LEXMATCH -MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16495 LEXMATCH -MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618388 LEXMATCH -MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618388 LEXMATCH -MONDO:0100102 fetal akinesia deformation sequence 2 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618388 LEXMATCH -MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618389 LEXMATCH -MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16496 LEXMATCH -MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618389 LEXMATCH -MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618389 LEXMATCH -MONDO:0100103 fetal akinesia deformation sequence 3 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618389 LEXMATCH -MONDO:0100104 fetal akinesia deformation sequence 4 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618393 LEXMATCH -MONDO:0100104 fetal akinesia deformation sequence 4 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16497 LEXMATCH -MONDO:0100104 fetal akinesia deformation sequence 4 skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618393 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:closeMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:623801 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:closeMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:13142 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:closeMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100115 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:closeMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100115 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:closeMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:623801 LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3694279 LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576074 LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22321 LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100116 LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100116 LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:closeMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576074 LEXMATCH -MONDO:0100119 Knobloch syndrome 2 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618458 LEXMATCH -MONDO:0100119 Knobloch syndrome 2 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618458 LEXMATCH -MONDO:0100129 intracranial arachoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207790 LEXMATCH -MONDO:0100129 intracranial arachoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:207790 LEXMATCH -MONDO:0100130 adult acute respiratory distress syndrome skos:closeMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:70578 LEXMATCH -MONDO:0100130 adult acute respiratory distress syndrome skos:closeMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:18902 LEXMATCH -MONDO:0100130 adult acute respiratory distress syndrome skos:closeMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100130 LEXMATCH -MONDO:0100130 adult acute respiratory distress syndrome skos:closeMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100130 LEXMATCH -MONDO:0100130 adult acute respiratory distress syndrome skos:closeMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:70578 LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936907 LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2609 LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3908 LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100133 LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100133 LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2609 LEXMATCH -MONDO:0100135 Dravet syndrome skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751122 LEXMATCH -MONDO:0100147 SATB2 associated disorder skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:576278 LEXMATCH -MONDO:0100147 SATB2 associated disorder skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22326 LEXMATCH -MONDO:0100147 SATB2 associated disorder skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100147 LEXMATCH -MONDO:0100147 SATB2 associated disorder skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100147 LEXMATCH -MONDO:0100147 SATB2 associated disorder skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:576278 LEXMATCH -MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 LEXMATCH -MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219800 LEXMATCH -MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 LEXMATCH -MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:219800 LEXMATCH -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261100 LEXMATCH -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:261100 LEXMATCH -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:261100 LEXMATCH -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:261100 LEXMATCH -MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618882 LEXMATCH -MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:618882 LEXMATCH -MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618882 LEXMATCH -MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:618882 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833104 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99885 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10457 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100164 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100164 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99885 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606176 LEXMATCH -MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:606176 LEXMATCH -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179300 LEXMATCH -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:179300 LEXMATCH -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:179300 LEXMATCH -MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:179300 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268467 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2102 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2844 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100186 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100186 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233910 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2102 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:233910 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245590 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:220465 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18311 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17133 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:245590 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100211 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100211 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:245590 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:220465 LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:245590 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839988 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2273 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15297 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2952 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100213 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100213 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2273 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:308205 LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:308205 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613658 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:178506 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18297 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17082 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:613658 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100215 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100215 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613658 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:178506 LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:613658 LEXMATCH -MONDO:0100216 DICER1-related tumor predisposition skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:284343 LEXMATCH -MONDO:0100216 DICER1-related tumor predisposition skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100216 LEXMATCH -MONDO:0100216 DICER1-related tumor predisposition skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100216 LEXMATCH -MONDO:0100216 DICER1-related tumor predisposition skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:284343 LEXMATCH -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620062 LEXMATCH -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620062 LEXMATCH -MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618985 LEXMATCH -MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18312 LEXMATCH -MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618985 LEXMATCH -MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619013 LEXMATCH -MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18298 LEXMATCH -MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619013 LEXMATCH -MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619013 LEXMATCH -MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619013 LEXMATCH -MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619016 LEXMATCH -MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16402 LEXMATCH -MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:619016 LEXMATCH -MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619016 LEXMATCH -MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:619016 LEXMATCH -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 LEXMATCH -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15201 LEXMATCH -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252010 LEXMATCH -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252010 LEXMATCH -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252010 LEXMATCH -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:228140 LEXMATCH -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4227 LEXMATCH -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100234 LEXMATCH -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100234 LEXMATCH -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:228140 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034042 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024790 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:447 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7337 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100244 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100244 LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:447 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936419 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:393 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:399 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100249 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100249 LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:393 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:400045 LEXMATCH -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:400045 LEXMATCH -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306661 LEXMATCH -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10879 LEXMATCH -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100251 LEXMATCH -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100251 LEXMATCH -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306661 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15146 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211900 LEXMATCH -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:211900 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268300 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3103 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:268300 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc phocomelia LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100253 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100253 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268300 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3103 LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:268300 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614300 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:289290 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17321 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100255 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100255 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614300 LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:289290 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047801 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:33226 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:7872 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100280 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100280 LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:33226 LEXMATCH -MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153600 LEXMATCH -MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:153600 LEXMATCH -MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:153600 LEXMATCH -MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:153600 LEXMATCH -MONDO:0100285 extrahepatic biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210500 LEXMATCH -MONDO:0100285 extrahepatic biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210500 LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268100 LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53540 LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis with early nyctalopia LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100288 LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:268100 LEXMATCH -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:53540 LEXMATCH -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10781 LEXMATCH -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100289 LEXMATCH -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100289 LEXMATCH -MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:53540 LEXMATCH -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619941 LEXMATCH -MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619941 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252011 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3208 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15202 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5053 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:252011 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100294 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100294 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252011 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3208 LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:252011 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15818 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614594 LEXMATCH -MONDO:0100302 LADD syndrome 1 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149730 LEXMATCH -MONDO:0100302 LADD syndrome 1 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:149730 LEXMATCH -MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 LEXMATCH -MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607602 LEXMATCH -MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 LEXMATCH -MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15417 LEXMATCH -MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:607602 LEXMATCH -MONDO:0100309 hereditary ataxia skos:closeMatch Orphanet:183518 Hereditary ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:183518 LEXMATCH -MONDO:0100309 hereditary ataxia skos:closeMatch Orphanet:183518 Hereditary ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20286 LEXMATCH -MONDO:0100309 hereditary ataxia skos:closeMatch Orphanet:183518 Hereditary ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100309 LEXMATCH -MONDO:0100309 hereditary ataxia skos:closeMatch Orphanet:183518 Hereditary ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100309 LEXMATCH -MONDO:0100309 hereditary ataxia skos:closeMatch Orphanet:183518 Hereditary ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:183518 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039211 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:192500 LEXMATCH -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:192500 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184260 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:166272 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8717 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100325 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100325 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:184260 LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:166272 LEXMATCH -MONDO:0100326 Glanzmann thrombasthenia skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:849 LEXMATCH -MONDO:0100326 Glanzmann thrombasthenia skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:2478 LEXMATCH -MONDO:0100326 Glanzmann thrombasthenia skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100326 LEXMATCH -MONDO:0100326 Glanzmann thrombasthenia skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100326 LEXMATCH -MONDO:0100326 Glanzmann thrombasthenia skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:849 LEXMATCH -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017374 LEXMATCH -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 LEXMATCH -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229300 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:95 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:6468 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100340 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100340 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:229300 LEXMATCH -MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:95 LEXMATCH -MONDO:0100342 malignant glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018338 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601678 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620217 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22482 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100344 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100344 LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620217 LEXMATCH -MONDO:0100347 carcinoid syndrome skos:closeMatch Orphanet:100093 Carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:100093 LEXMATCH -MONDO:0100347 carcinoid syndrome skos:closeMatch Orphanet:100093 Carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5994 LEXMATCH -MONDO:0100347 carcinoid syndrome skos:closeMatch Orphanet:100093 Carcinoid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100347 LEXMATCH -MONDO:0100347 carcinoid syndrome skos:closeMatch Orphanet:100093 Carcinoid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100347 LEXMATCH -MONDO:0100347 carcinoid syndrome skos:closeMatch Orphanet:100093 Carcinoid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:100093 LEXMATCH -MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619091 LEXMATCH -MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18534 LEXMATCH -MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619091 LEXMATCH -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857662 LEXMATCH -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1454 LEXMATCH -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1410 LEXMATCH -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100349 LEXMATCH -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100349 LEXMATCH -MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1454 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:139536 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16955 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100350 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100350 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:139536 LEXMATCH -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128200 LEXMATCH -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal kinesigenic dyskinesia LEXMATCH -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128200 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249210 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608393 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2241 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15195 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3442 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100354 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100354 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:249210 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2241 LEXMATCH -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:closeMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2703 LEXMATCH -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:closeMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4014 LEXMATCH -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:closeMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100367 LEXMATCH -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:closeMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100367 LEXMATCH -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:closeMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2703 LEXMATCH -MONDO:0100428 progressive bulbar palsy of childhood skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211500 LEXMATCH -MONDO:0100428 progressive bulbar palsy of childhood skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:211500 LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:69665 LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9804 LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100429 LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100429 LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:69665 LEXMATCH -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255800 LEXMATCH -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255800 LEXMATCH -MONDO:0100436 cataract 2, multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604307 LEXMATCH -MONDO:0100436 cataract 2, multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:604307 LEXMATCH -MONDO:0100437 RPGR-related retinopathy skos:closeMatch Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinal ciliopathy due to mutation in the rpgr gene LEXMATCH -MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus LEXMATCH -MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens LEXMATCH -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus LEXMATCH -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens LEXMATCH -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym västerbotten dystrophy LEXMATCH -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy LEXMATCH -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive posterior column ataxia and retinitis pigmentosa LEXMATCH -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia-retinitis pigmentosa syndrome LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193235 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:329211 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17497 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100450 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100450 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193235 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:329211 LEXMATCH -MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 LEXMATCH -MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200400 LEXMATCH -MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:455 LEXMATCH -MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:200400 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:251262 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:4133 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100462 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100462 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:251262 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:165800 LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:165800 LEXMATCH -MONDO:0100466 butterfly-shaped pigment dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99001 LEXMATCH -MONDO:0100466 butterfly-shaped pigment dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16890 LEXMATCH -MONDO:0100466 butterfly-shaped pigment dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100466 LEXMATCH -MONDO:0100466 butterfly-shaped pigment dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100466 LEXMATCH -MONDO:0100466 butterfly-shaped pigment dystrophy skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99001 LEXMATCH -MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189800 LEXMATCH -MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18389 LEXMATCH -MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:189800 LEXMATCH -MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608709 LEXMATCH -MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:608709 LEXMATCH -MONDO:0100478 brain malformations with or without urinary tract defects skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613735 LEXMATCH -MONDO:0100478 brain malformations with or without urinary tract defects skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613735 LEXMATCH -MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:85138 LEXMATCH -MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5740 LEXMATCH -MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune adrenalitis LEXMATCH -MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100480 LEXMATCH -MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100480 LEXMATCH -MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:85138 LEXMATCH -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 LEXMATCH -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:137215 LEXMATCH -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113700 LEXMATCH -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15045 LEXMATCH -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:113700 LEXMATCH -MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343055 LEXMATCH -MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2369 LEXMATCH -MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label limb body wall complex LEXMATCH -MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100501 LEXMATCH -MONDO:0100508 salivary gland type cancer of the breast skos:closeMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:213557 LEXMATCH -MONDO:0100508 salivary gland type cancer of the breast skos:closeMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12774 LEXMATCH -MONDO:0100508 salivary gland type cancer of the breast skos:closeMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100508 LEXMATCH -MONDO:0100508 salivary gland type cancer of the breast skos:closeMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100508 LEXMATCH -MONDO:0100508 salivary gland type cancer of the breast skos:closeMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:213557 LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711385 LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:254871 LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20769 LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100512 LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100512 LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:254871 LEXMATCH -MONDO:0100522 hypotrichosis 4 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146550 LEXMATCH -MONDO:0100522 hypotrichosis 4 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:146550 LEXMATCH -MONDO:0100522 hypotrichosis 4 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:146550 LEXMATCH -MONDO:0100522 hypotrichosis 4 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:146550 LEXMATCH -MONDO:0100524 ASAH1-related sphingolipidosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acid ceramidase deficiency LEXMATCH -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:closeMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2204 LEXMATCH -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:closeMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100527 LEXMATCH -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:closeMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100527 LEXMATCH -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:closeMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2204 LEXMATCH -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:500055 LEXMATCH -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0100528 LEXMATCH -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0100528 LEXMATCH -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:closeMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:500055 LEXMATCH -MONDO:0600023 idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751356 LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:closeMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:585956 LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:closeMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22348 LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:closeMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0600030 LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:closeMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0600030 LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:closeMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:585956 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838703 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600057 LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:600057 LEXMATCH -MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613013 LEXMATCH -MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15603 LEXMATCH -MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613013 LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:319612 LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12915 LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0700042 LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0700042 LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:closeMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:319612 LEXMATCH -MONDO:0700065 trisomy skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014314 LEXMATCH -MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035220 LEXMATCH -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 LEXMATCH -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:5436 LEXMATCH -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276900 LEXMATCH -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 LEXMATCH -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276900 LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:98810 LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8722 LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal non-kinesigenic dyskinesia LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0700088 LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0700088 LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:98810 LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065657 LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065658 LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:118800 LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:118800 LEXMATCH -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:118800 LEXMATCH -MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600512 LEXMATCH -MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600512 LEXMATCH -MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613026 LEXMATCH -MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613026 LEXMATCH -MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270100 LEXMATCH -MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:270100 LEXMATCH -MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:270100 LEXMATCH -MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:270100 LEXMATCH -MONDO:0700220 disease related to transplantation skos:closeMatch Orphanet:306644 Complication after organ transplantation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:306644 LEXMATCH -MONDO:0700220 disease related to transplantation skos:closeMatch Orphanet:306644 Complication after organ transplantation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0700220 LEXMATCH -MONDO:0700220 disease related to transplantation skos:closeMatch Orphanet:306644 Complication after organ transplantation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0700220 LEXMATCH -MONDO:0700220 disease related to transplantation skos:closeMatch Orphanet:306644 Complication after organ transplantation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:306644 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145420 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1519 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:957 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:145420 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800025 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800025 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:145420 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1519 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:145420 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007982 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066131 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275808 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:661 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8535 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800026 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800026 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:661 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disease LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haddad syndrome LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:209880 LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:209880 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221820 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711381 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:313808 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:10981 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800027 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800027 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:221820 LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:313808 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606703 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847627 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:324588 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12722 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800028 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800028 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606703 LEXMATCH -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:324588 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:2032 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:8609 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800029 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800029 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:2032 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:79126 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800029 LEXMATCH -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178500 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243150 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:436252 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17731 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800030 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800030 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243150 LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:436252 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275210 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406585 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1662 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1516 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800042 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800042 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:275210 LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1662 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601559 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796176 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:3206 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5045 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800043 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800043 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601559 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:3206 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615273 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:404454 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12315 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:615273 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800044 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800044 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615273 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:404454 LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:615273 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:476102 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17848 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800045 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800045 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616744 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:476102 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609698 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:171706 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17068 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:609698 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800046 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800046 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609698 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:171706 LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:609698 LEXMATCH -MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613112 LEXMATCH -MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18271 LEXMATCH -MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613112 LEXMATCH -MONDO:0800075 dysostosis with predominant vertebral with and without costal involvement skos:closeMatch Orphanet:93454 Dysostosis with predominant vertebral and costal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93454 LEXMATCH -MONDO:0800075 dysostosis with predominant vertebral with and without costal involvement skos:closeMatch Orphanet:93454 Dysostosis with predominant vertebral and costal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800075 LEXMATCH -MONDO:0800084 primary bone dysplasia with increased bone density skos:closeMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19200 LEXMATCH -MONDO:0800084 primary bone dysplasia with increased bone density skos:closeMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800084 LEXMATCH -MONDO:0800084 primary bone dysplasia with increased bone density skos:closeMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800084 LEXMATCH -MONDO:0800085 dysostosis with predominant craniofacial involvement skos:closeMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93453 LEXMATCH -MONDO:0800085 dysostosis with predominant craniofacial involvement skos:closeMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19207 LEXMATCH -MONDO:0800085 dysostosis with predominant craniofacial involvement skos:closeMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800085 LEXMATCH -MONDO:0800085 dysostosis with predominant craniofacial involvement skos:closeMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800085 LEXMATCH -MONDO:0800085 dysostosis with predominant craniofacial involvement skos:closeMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93453 LEXMATCH -MONDO:0800086 primary bone dysplasia with multiple joint dislocations skos:closeMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:93441 LEXMATCH -MONDO:0800086 primary bone dysplasia with multiple joint dislocations skos:closeMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19198 LEXMATCH -MONDO:0800086 primary bone dysplasia with multiple joint dislocations skos:closeMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800086 LEXMATCH -MONDO:0800086 primary bone dysplasia with multiple joint dislocations skos:closeMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800086 LEXMATCH -MONDO:0800086 primary bone dysplasia with multiple joint dislocations skos:closeMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:93441 LEXMATCH -MONDO:0800087 type 11 collagen-related bone disorder skos:closeMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19187 LEXMATCH -MONDO:0800087 type 11 collagen-related bone disorder skos:closeMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800087 LEXMATCH -MONDO:0800087 type 11 collagen-related bone disorder skos:closeMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800087 LEXMATCH -MONDO:0800088 lysosomal storage disease with skeletal involvement skos:closeMatch Orphanet:93448 Lysosomal storage disease with skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19203 LEXMATCH -MONDO:0800088 lysosomal storage disease with skeletal involvement skos:closeMatch Orphanet:93448 Lysosomal storage disease with skeletal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800088 LEXMATCH -MONDO:0800088 lysosomal storage disease with skeletal involvement skos:closeMatch Orphanet:93448 Lysosomal storage disease with skeletal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800088 LEXMATCH -MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components skos:closeMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19205 LEXMATCH -MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components skos:closeMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800089 LEXMATCH -MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components skos:closeMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800089 LEXMATCH -MONDO:0800090 ectrodactyly with and without other manifestations skos:closeMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22030 LEXMATCH -MONDO:0800090 ectrodactyly with and without other manifestations skos:closeMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800090 LEXMATCH -MONDO:0800090 ectrodactyly with and without other manifestations skos:closeMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800090 LEXMATCH -MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement skos:closeMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22021 LEXMATCH -MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement skos:closeMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800091 LEXMATCH -MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement skos:closeMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800091 LEXMATCH -MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy skos:closeMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22020 LEXMATCH -MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy skos:closeMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800092 LEXMATCH -MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy skos:closeMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800092 LEXMATCH -MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations skos:closeMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22022 LEXMATCH -MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations skos:closeMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800093 LEXMATCH -MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations skos:closeMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800093 LEXMATCH -MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations skos:closeMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22023 LEXMATCH -MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations skos:closeMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800094 LEXMATCH -MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations skos:closeMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800094 LEXMATCH -MONDO:0800095 syndrome with synostosis or other joint formation defect skos:closeMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19212 LEXMATCH -MONDO:0800095 syndrome with synostosis or other joint formation defect skos:closeMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800095 LEXMATCH -MONDO:0800095 syndrome with synostosis or other joint formation defect skos:closeMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800095 LEXMATCH -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome LEXMATCH -MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216360 LEXMATCH -MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15153 LEXMATCH -MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:216360 LEXMATCH -MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:216360 LEXMATCH -MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:216360 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267750 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849409 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1571 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:380 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:267750 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800167 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800167 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:267750 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1571 LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:267750 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007625 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036980 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:97292 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19362 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800175 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800175 LEXMATCH -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:97292 LEXMATCH -MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613002 LEXMATCH -MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15600 LEXMATCH -MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613002 LEXMATCH -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect LEXMATCH -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect LEXMATCH -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255310 LEXMATCH -MONDO:0800341 congenital myopathy 4A, autosomal dominant skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:255310 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1394 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:1210 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:213980 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800436 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800436 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:213980 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1394 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:213980 LEXMATCH -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254940 LEXMATCH -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850746 LEXMATCH -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254940 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:459061 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17814 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800438 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800438 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616901 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:459061 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:135 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0800448 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0800448 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:135 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy LEXMATCH -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:168486 LEXMATCH -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17031 LEXMATCH -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850001 LEXMATCH -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850001 LEXMATCH -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:168486 LEXMATCH -MONDO:0850007 syndromic lacrimal system disorder skos:closeMatch Orphanet:519274 Syndromic lacrimal system disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22083 LEXMATCH -MONDO:0850007 syndromic lacrimal system disorder skos:closeMatch Orphanet:519274 Syndromic lacrimal system disorder semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850007 LEXMATCH -MONDO:0850007 syndromic lacrimal system disorder skos:closeMatch Orphanet:519274 Syndromic lacrimal system disorder semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850007 LEXMATCH -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:closeMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22084 LEXMATCH -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:closeMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850008 LEXMATCH -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:closeMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850008 LEXMATCH -MONDO:0850009 syndromic microspherophakia skos:closeMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22093 LEXMATCH -MONDO:0850009 syndromic microspherophakia skos:closeMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850009 LEXMATCH -MONDO:0850009 syndromic microspherophakia skos:closeMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850009 LEXMATCH -MONDO:0850010 congenital optic disk excavation skos:closeMatch Orphanet:519333 Congenital optic disc excavation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22112 LEXMATCH -MONDO:0850010 congenital optic disk excavation skos:closeMatch Orphanet:519333 Congenital optic disc excavation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850010 LEXMATCH -MONDO:0850010 congenital optic disk excavation skos:closeMatch Orphanet:519333 Congenital optic disc excavation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850010 LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:closeMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617294 LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:closeMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22445 LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:closeMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850013 LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:closeMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850013 LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:closeMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617294 LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:closeMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617297 LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:closeMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22446 LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:closeMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850014 LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:closeMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850014 LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:closeMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617297 LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:closeMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617301 LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:closeMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22447 LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:closeMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850015 LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:closeMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850015 LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:closeMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617301 LEXMATCH -MONDO:0850030 complete hemimelia skos:closeMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22033 LEXMATCH -MONDO:0850030 complete hemimelia skos:closeMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850030 LEXMATCH -MONDO:0850030 complete hemimelia skos:closeMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850030 LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:closeMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617304 LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:closeMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22448 LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:closeMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850046 LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:closeMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850046 LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:closeMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617304 LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617408 LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22452 LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850048 LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850048 LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:closeMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617408 LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:closeMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617440 LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:closeMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12706 LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:closeMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850049 LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:closeMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850049 LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:closeMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617440 LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:closeMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617449 LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:closeMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22453 LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:closeMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850050 LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:closeMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850050 LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:closeMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617449 LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:closeMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617919 LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:closeMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22454 LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:closeMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850053 LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:closeMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850053 LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:closeMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617919 LEXMATCH -MONDO:0850054 hemophilia B leyden skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:617930 LEXMATCH -MONDO:0850054 hemophilia B leyden skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22455 LEXMATCH -MONDO:0850054 hemophilia B leyden skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850054 LEXMATCH -MONDO:0850054 hemophilia B leyden skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850054 LEXMATCH -MONDO:0850054 hemophilia B leyden skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:617930 LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:closeMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:618891 LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:closeMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22456 LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:closeMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850058 LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:closeMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850058 LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:closeMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:618891 LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619233 LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22458 LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850059 LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850059 LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619233 LEXMATCH -MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:closeMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22461 LEXMATCH -MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:closeMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850064 LEXMATCH -MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:closeMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850064 LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:closeMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619363 LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:closeMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22462 LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:closeMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850065 LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:closeMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850065 LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:closeMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619363 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:closeMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619367 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:closeMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22463 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:closeMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850066 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:closeMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850066 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:closeMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619367 LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:closeMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619941 LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:closeMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22464 LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:closeMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850067 LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:closeMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850067 LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:closeMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619941 LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:closeMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619948 LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:closeMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22465 LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:closeMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850068 LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:closeMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850068 LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:closeMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619948 LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:closeMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619953 LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:closeMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22466 LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:closeMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850069 LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:closeMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850069 LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:closeMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619953 LEXMATCH -MONDO:0850070 CADINS disease skos:closeMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619972 LEXMATCH -MONDO:0850070 CADINS disease skos:closeMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22467 LEXMATCH -MONDO:0850070 CADINS disease skos:closeMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850070 LEXMATCH -MONDO:0850070 CADINS disease skos:closeMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850070 LEXMATCH -MONDO:0850070 CADINS disease skos:closeMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619972 LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:619979 LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22468 LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850071 LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850071 LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:closeMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:619979 LEXMATCH -MONDO:0850072 non-syndromic unisutural craniosynostosis skos:closeMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22469 LEXMATCH -MONDO:0850072 non-syndromic unisutural craniosynostosis skos:closeMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850072 LEXMATCH -MONDO:0850072 non-syndromic unisutural craniosynostosis skos:closeMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850072 LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:closeMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620102 LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:closeMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22470 LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:closeMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850073 LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:closeMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850073 LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:closeMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620102 LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:closeMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620113 LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:closeMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22471 LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:closeMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850074 LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:closeMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850074 LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:closeMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620113 LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:closeMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620139 LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:closeMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22472 LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:closeMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850075 LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:closeMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850075 LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:closeMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620139 LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:closeMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620146 LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:closeMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22473 LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:closeMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850076 LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:closeMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850076 LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:closeMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620146 LEXMATCH -MONDO:0850077 non-syndromic multisutural craniosynostosis skos:closeMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22474 LEXMATCH -MONDO:0850077 non-syndromic multisutural craniosynostosis skos:closeMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850077 LEXMATCH -MONDO:0850077 non-syndromic multisutural craniosynostosis skos:closeMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850077 LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:closeMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620158 LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:closeMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22475 LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:closeMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850078 LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:closeMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850078 LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:closeMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620158 LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:closeMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620178 LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:closeMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22476 LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:closeMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850079 LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:closeMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850079 LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:closeMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620178 LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620186 LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22477 LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850080 LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850080 LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620186 LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:closeMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620192 LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:closeMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22478 LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:closeMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850081 LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:closeMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850081 LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:closeMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620192 LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:closeMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620198 LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:closeMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22479 LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:closeMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850082 LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:closeMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850082 LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:closeMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620198 LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620205 LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22480 LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850083 LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850083 LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:closeMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620205 LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:closeMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620212 LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:closeMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22481 LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:closeMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850084 LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:closeMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850084 LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:closeMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620212 LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620363 LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22484 LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850087 LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850087 LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:closeMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620363 LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:closeMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620368 LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:closeMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22485 LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:closeMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850088 LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:closeMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850088 LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:closeMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620368 LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:closeMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:620371 LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:closeMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22486 LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:closeMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850089 LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:closeMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850089 LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:closeMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:620371 LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:621758 LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22487 LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850090 LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850090 LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:closeMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:621758 LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:closeMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:622925 LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:closeMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22490 LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:closeMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850095 LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:closeMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850095 LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:closeMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:622925 LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:closeMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:622934 LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:closeMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22491 LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:closeMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850096 LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:closeMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850096 LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:closeMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:622934 LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:closeMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:623615 LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:closeMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22492 LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:closeMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850097 LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:closeMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850097 LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:closeMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:623615 LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:623695 LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22495 LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850099 LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850099 LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:closeMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:623695 LEXMATCH -MONDO:0850100 body integrity dysphoria skos:closeMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:623789 LEXMATCH -MONDO:0850100 body integrity dysphoria skos:closeMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22496 LEXMATCH -MONDO:0850100 body integrity dysphoria skos:closeMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850100 LEXMATCH -MONDO:0850100 body integrity dysphoria skos:closeMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850100 LEXMATCH -MONDO:0850100 body integrity dysphoria skos:closeMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:623789 LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:closeMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624166 LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:closeMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22497 LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:closeMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850102 LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:closeMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850102 LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:closeMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624166 LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:closeMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624178 LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:closeMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22498 LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:closeMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850103 LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:closeMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850103 LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:closeMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624178 LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:closeMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624190 LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:closeMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22499 LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:closeMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850104 LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:closeMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850104 LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:closeMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624190 LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:closeMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624199 LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:closeMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22500 LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:closeMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850105 LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:closeMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850105 LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:closeMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624199 LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:closeMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624216 LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:closeMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22501 LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:closeMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850106 LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:closeMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850106 LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:closeMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624216 LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624244 LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22502 LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850107 LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850107 LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:closeMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624244 LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:closeMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624259 LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:closeMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22503 LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:closeMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850108 LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:closeMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850108 LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:closeMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624259 LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:624268 LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22504 LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850109 LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850109 LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:624268 LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99704 LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:19685 LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0850115 LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0850115 LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:closeMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99704 LEXMATCH -MONDO:0851095 KINSSHIP syndrome skos:closeMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619297 LEXMATCH -MONDO:0851095 KINSSHIP syndrome skos:closeMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619297 LEXMATCH -MONDO:0858989 autosomal recessive spastic paraplegia type 84 skos:closeMatch Orphanet:631079 Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631079 LEXMATCH -MONDO:0858989 autosomal recessive spastic paraplegia type 84 skos:closeMatch Orphanet:631079 Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858989 LEXMATCH -MONDO:0858989 autosomal recessive spastic paraplegia type 84 skos:closeMatch Orphanet:631079 Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858989 LEXMATCH -MONDO:0858989 autosomal recessive spastic paraplegia type 84 skos:closeMatch Orphanet:631079 Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631079 LEXMATCH -MONDO:0858990 autosomal recessive spastic paraplegia type 85 skos:closeMatch Orphanet:631082 Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631082 LEXMATCH -MONDO:0858990 autosomal recessive spastic paraplegia type 85 skos:closeMatch Orphanet:631082 Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858990 LEXMATCH -MONDO:0858990 autosomal recessive spastic paraplegia type 85 skos:closeMatch Orphanet:631082 Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858990 LEXMATCH -MONDO:0858990 autosomal recessive spastic paraplegia type 85 skos:closeMatch Orphanet:631082 Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631082 LEXMATCH -MONDO:0858991 autosomal recessive spastic paraplegia type 86 skos:closeMatch Orphanet:631085 Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631085 LEXMATCH -MONDO:0858991 autosomal recessive spastic paraplegia type 86 skos:closeMatch Orphanet:631085 Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858991 LEXMATCH -MONDO:0858991 autosomal recessive spastic paraplegia type 86 skos:closeMatch Orphanet:631085 Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858991 LEXMATCH -MONDO:0858991 autosomal recessive spastic paraplegia type 86 skos:closeMatch Orphanet:631085 Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631085 LEXMATCH -MONDO:0858992 autosomal recessive spastic paraplegia type 87 skos:closeMatch Orphanet:631088 Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631088 LEXMATCH -MONDO:0858992 autosomal recessive spastic paraplegia type 87 skos:closeMatch Orphanet:631088 Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858992 LEXMATCH -MONDO:0858992 autosomal recessive spastic paraplegia type 87 skos:closeMatch Orphanet:631088 Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858992 LEXMATCH -MONDO:0858992 autosomal recessive spastic paraplegia type 87 skos:closeMatch Orphanet:631088 Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631088 LEXMATCH -MONDO:0858997 cancer of unknown primary site skos:closeMatch Orphanet:631251 Cancer of unknown primary site semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:631251 LEXMATCH -MONDO:0858997 cancer of unknown primary site skos:closeMatch Orphanet:631251 Cancer of unknown primary site semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858997 LEXMATCH -MONDO:0858997 cancer of unknown primary site skos:closeMatch Orphanet:631251 Cancer of unknown primary site semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858997 LEXMATCH -MONDO:0858997 cancer of unknown primary site skos:closeMatch Orphanet:631251 Cancer of unknown primary site semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:631251 LEXMATCH -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:closeMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:632603 LEXMATCH -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:closeMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858998 LEXMATCH -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:closeMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858998 LEXMATCH -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:closeMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:632603 LEXMATCH -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome skos:closeMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633004 LEXMATCH -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome skos:closeMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0858999 LEXMATCH -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome skos:closeMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0858999 LEXMATCH -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome skos:closeMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633004 LEXMATCH -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633014 LEXMATCH -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859000 LEXMATCH -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859000 LEXMATCH -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633014 LEXMATCH -MONDO:0859001 CPE-related Prader-Willi-like syndrome skos:closeMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633028 LEXMATCH -MONDO:0859001 CPE-related Prader-Willi-like syndrome skos:closeMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859001 LEXMATCH -MONDO:0859001 CPE-related Prader-Willi-like syndrome skos:closeMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859001 LEXMATCH -MONDO:0859001 CPE-related Prader-Willi-like syndrome skos:closeMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633028 LEXMATCH -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome skos:closeMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633035 LEXMATCH -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome skos:closeMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859002 LEXMATCH -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome skos:closeMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859002 LEXMATCH -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome skos:closeMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633035 LEXMATCH -MONDO:0859003 PAICS deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633099 LEXMATCH -MONDO:0859003 PAICS deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859003 LEXMATCH -MONDO:0859003 PAICS deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859003 LEXMATCH -MONDO:0859003 PAICS deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633099 LEXMATCH -MONDO:0859004 invasive scopulariopsis infection skos:closeMatch Orphanet:633124 Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633124 LEXMATCH -MONDO:0859004 invasive scopulariopsis infection skos:closeMatch Orphanet:633124 Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859004 LEXMATCH -MONDO:0859004 invasive scopulariopsis infection skos:closeMatch Orphanet:633124 Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859004 LEXMATCH -MONDO:0859004 invasive scopulariopsis infection skos:closeMatch Orphanet:633124 Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633124 LEXMATCH -MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:closeMatch Orphanet:633211 Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633211 LEXMATCH -MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:closeMatch Orphanet:633211 Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859005 LEXMATCH -MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:closeMatch Orphanet:633211 Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859005 LEXMATCH -MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:closeMatch Orphanet:633211 Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633211 LEXMATCH -MONDO:0859006 proximal femoral focal deficiency skos:closeMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633228 LEXMATCH -MONDO:0859006 proximal femoral focal deficiency skos:closeMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859006 LEXMATCH -MONDO:0859006 proximal femoral focal deficiency skos:closeMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859006 LEXMATCH -MONDO:0859006 proximal femoral focal deficiency skos:closeMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633228 LEXMATCH -MONDO:0859007 mosaic Legius syndrome skos:closeMatch Orphanet:634511 Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:634511 LEXMATCH -MONDO:0859007 mosaic Legius syndrome skos:closeMatch Orphanet:634511 Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859007 LEXMATCH -MONDO:0859007 mosaic Legius syndrome skos:closeMatch Orphanet:634511 Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859007 LEXMATCH -MONDO:0859007 mosaic Legius syndrome skos:closeMatch Orphanet:634511 Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:634511 LEXMATCH -MONDO:0859008 neurofibromatosis/schwannomatosis skos:closeMatch Orphanet:634518 Neurofibromatosis/schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859008 LEXMATCH -MONDO:0859008 neurofibromatosis/schwannomatosis skos:closeMatch Orphanet:634518 Neurofibromatosis/schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859008 LEXMATCH -MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181460 LEXMATCH -MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15112 LEXMATCH -MONDO:0859050 Schistosoma mansoni infection, susceptibility/resistance to skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:181460 LEXMATCH -MONDO:0859083 systemic lupus erythematosus 17 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301080 LEXMATCH -MONDO:0859083 systemic lupus erythematosus 17 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301080 LEXMATCH -MONDO:0859136 Alzahrani-Kuwahara syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619268 LEXMATCH -MONDO:0859136 Alzahrani-Kuwahara syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18544 LEXMATCH -MONDO:0859136 Alzahrani-Kuwahara syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619268 LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619293 LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:637013 LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859139 LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859139 LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619293 LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:637013 LEXMATCH -MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619306 LEXMATCH -MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18545 LEXMATCH -MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619306 LEXMATCH -MONDO:0859144 Buratti-Harel syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619314 LEXMATCH -MONDO:0859144 Buratti-Harel syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18546 LEXMATCH -MONDO:0859144 Buratti-Harel syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619314 LEXMATCH -MONDO:0859149 hypertriglyceridemia 2 skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619324 LEXMATCH -MONDO:0859149 hypertriglyceridemia 2 skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619324 LEXMATCH -MONDO:0859154 Bartsocas-Papas syndrome 2 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619339 LEXMATCH -MONDO:0859154 Bartsocas-Papas syndrome 2 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16444 LEXMATCH -MONDO:0859154 Bartsocas-Papas syndrome 2 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619339 LEXMATCH -MONDO:0859157 visceral myopathy 2 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619350 LEXMATCH -MONDO:0859157 visceral myopathy 2 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16446 LEXMATCH -MONDO:0859157 visceral myopathy 2 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619350 LEXMATCH -MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619355 LEXMATCH -MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16448 LEXMATCH -MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619355 LEXMATCH -MONDO:0859173 sick sinus syndrome 4 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619464 LEXMATCH -MONDO:0859173 sick sinus syndrome 4 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619464 LEXMATCH -MONDO:0859192 cerebral cavernous malformation 4 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619538 LEXMATCH -MONDO:0859192 cerebral cavernous malformation 4 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619538 LEXMATCH -MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:closeMatch Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859200 LEXMATCH -MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:closeMatch Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859200 LEXMATCH -MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619702 LEXMATCH -MONDO:0859222 heterotaxy, visceral, 12, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619702 LEXMATCH -MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619817 LEXMATCH -MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619817 LEXMATCH -MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619824 LEXMATCH -MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619824 LEXMATCH -MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619835 LEXMATCH -MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619835 LEXMATCH -MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619859 LEXMATCH -MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619859 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH -MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619922 LEXMATCH -MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619922 LEXMATCH -MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620011 LEXMATCH -MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620011 LEXMATCH -MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620065 LEXMATCH -MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620065 LEXMATCH -MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620098 LEXMATCH -MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620098 LEXMATCH -MONDO:0859307 cleidocranial dysplasia 2 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620099 LEXMATCH -MONDO:0859307 cleidocranial dysplasia 2 skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620099 LEXMATCH -MONDO:0859308 retinitis pigmentosa 95 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620102 LEXMATCH -MONDO:0859308 retinitis pigmentosa 95 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620102 LEXMATCH -MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620114 LEXMATCH -MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620114 LEXMATCH -MONDO:0859314 developmental and epileptic encephalopathy 108 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620115 LEXMATCH -MONDO:0859314 developmental and epileptic encephalopathy 108 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620115 LEXMATCH -MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620133 LEXMATCH -MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620133 LEXMATCH -MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620135 LEXMATCH -MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620135 LEXMATCH -MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620137 LEXMATCH -MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620137 LEXMATCH -MONDO:0859325 developmental and epileptic encephalopathy 109 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620145 LEXMATCH -MONDO:0859325 developmental and epileptic encephalopathy 109 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620145 LEXMATCH -MONDO:0859327 developmental and epileptic encephalopathy 110 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620149 LEXMATCH -MONDO:0859327 developmental and epileptic encephalopathy 110 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620149 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620153 LEXMATCH -MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620153 LEXMATCH -MONDO:0859330 oocyte maturation defect 13 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620154 LEXMATCH -MONDO:0859330 oocyte maturation defect 13 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620154 LEXMATCH -MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620157 LEXMATCH -MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620157 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620170 LEXMATCH -MONDO:0859338 spermatogenic failure 78 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620170 LEXMATCH -MONDO:0859339 tooth agenesis, selective, 10 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620173 LEXMATCH -MONDO:0859339 tooth agenesis, selective, 10 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620173 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620177 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620177 LEXMATCH -MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620183 LEXMATCH -MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620183 LEXMATCH -MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620186 LEXMATCH -MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome skos:closeMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620186 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620189 LEXMATCH -MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620189 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620196 LEXMATCH -MONDO:0859352 spermatogenic failure 79 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620196 LEXMATCH -MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620197 LEXMATCH -MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620197 LEXMATCH -MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620198 LEXMATCH -MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:closeMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620198 LEXMATCH -MONDO:0859358 cardiomyopathy, dilated, 2H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620203 LEXMATCH -MONDO:0859358 cardiomyopathy, dilated, 2H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620203 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620222 LEXMATCH -MONDO:0859364 spermatogenic failure 80 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620222 LEXMATCH -MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620227 LEXMATCH -MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620227 LEXMATCH -MONDO:0859367 retinitis pigmentosa 96 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620228 LEXMATCH -MONDO:0859367 retinitis pigmentosa 96 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620228 LEXMATCH -MONDO:0859368 short QT syndrome 7 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620231 LEXMATCH -MONDO:0859368 short QT syndrome 7 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620231 LEXMATCH -MONDO:0859374 hearing loss, autosomal recessive 120 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620238 LEXMATCH -MONDO:0859374 hearing loss, autosomal recessive 120 skos:closeMatch Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620238 LEXMATCH -MONDO:0859565 atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606215 LEXMATCH -MONDO:0859565 atrioventricular septal defect skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606215 LEXMATCH -MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616994 LEXMATCH -MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616994 LEXMATCH -MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620076 LEXMATCH -MONDO:0859573 bent bone dysplasia syndrome 2 skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620076 LEXMATCH -MONDO:0859574 ichthyosis, annular epidermolytic, 2 skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620148 LEXMATCH -MONDO:0859574 ichthyosis, annular epidermolytic, 2 skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620148 LEXMATCH -MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620192 LEXMATCH -MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620192 LEXMATCH -MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620193 LEXMATCH -MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620193 LEXMATCH -MONDO:0859692 immune-mediated cerebellar ataxia skos:closeMatch Orphanet:623638 Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:22494 LEXMATCH -MONDO:0859692 immune-mediated cerebellar ataxia skos:closeMatch Orphanet:623638 Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859692 LEXMATCH -MONDO:0859692 immune-mediated cerebellar ataxia skos:closeMatch Orphanet:623638 Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859692 LEXMATCH -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome skos:closeMatch Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633021 LEXMATCH -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome skos:closeMatch Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859761 LEXMATCH -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome skos:closeMatch Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859761 LEXMATCH -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome skos:closeMatch Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633021 LEXMATCH -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:633024 LEXMATCH -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859762 LEXMATCH -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859762 LEXMATCH -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome skos:closeMatch Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:633024 LEXMATCH -MONDO:0859763 mosaic neurofibromatosis type 1 skos:closeMatch Orphanet:634461 Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:634461 LEXMATCH -MONDO:0859763 mosaic neurofibromatosis type 1 skos:closeMatch Orphanet:634461 Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859763 LEXMATCH -MONDO:0859763 mosaic neurofibromatosis type 1 skos:closeMatch Orphanet:634461 Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859763 LEXMATCH -MONDO:0859763 mosaic neurofibromatosis type 1 skos:closeMatch Orphanet:634461 Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:634461 LEXMATCH -MONDO:0859764 mosaic NF2-related schwannomatosis skos:closeMatch Orphanet:634475 Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:634475 LEXMATCH -MONDO:0859764 mosaic NF2-related schwannomatosis skos:closeMatch Orphanet:634475 Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859764 LEXMATCH -MONDO:0859764 mosaic NF2-related schwannomatosis skos:closeMatch Orphanet:634475 Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859764 LEXMATCH -MONDO:0859764 mosaic NF2-related schwannomatosis skos:closeMatch Orphanet:634475 Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:634475 LEXMATCH -MONDO:0859765 mosaic schwannomatosis skos:closeMatch Orphanet:634492 Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:634492 LEXMATCH -MONDO:0859765 mosaic schwannomatosis skos:closeMatch Orphanet:634492 Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0859765 LEXMATCH -MONDO:0859765 mosaic schwannomatosis skos:closeMatch Orphanet:634492 Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0859765 LEXMATCH -MONDO:0859765 mosaic schwannomatosis skos:closeMatch Orphanet:634492 Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:634492 LEXMATCH -MONDO:0957003 hereditary neuro-ophthalmological disease skos:closeMatch Orphanet:183616 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957003 LEXMATCH -MONDO:0957003 hereditary neuro-ophthalmological disease skos:closeMatch Orphanet:183616 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957003 LEXMATCH -MONDO:0957008 hereditary cerebral malformation skos:closeMatch Orphanet:269553 Genetic cerebral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957008 LEXMATCH -MONDO:0957008 hereditary cerebral malformation skos:closeMatch Orphanet:269553 Genetic cerebral malformation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957008 LEXMATCH -MONDO:0957018 autoinflammatory syndrome of childhood skos:closeMatch Orphanet:319719 Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957018 LEXMATCH -MONDO:0957018 autoinflammatory syndrome of childhood skos:closeMatch Orphanet:319719 Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957018 LEXMATCH -MONDO:0957048 isolated macular dystrophy skos:closeMatch Orphanet:519302 Isolated macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957048 LEXMATCH -MONDO:0957048 isolated macular dystrophy skos:closeMatch Orphanet:519302 Isolated macular dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957048 LEXMATCH -MONDO:0957097 hereditary hemolytic uremic syndrome skos:closeMatch Orphanet:576742 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957097 LEXMATCH -MONDO:0957097 hereditary hemolytic uremic syndrome skos:closeMatch Orphanet:576742 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957097 LEXMATCH -MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:closeMatch Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957111 LEXMATCH -MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:closeMatch Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957111 LEXMATCH -MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:closeMatch Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957112 LEXMATCH -MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:closeMatch Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957112 LEXMATCH -MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:closeMatch Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957113 LEXMATCH -MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:closeMatch Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957113 LEXMATCH -MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:closeMatch Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957114 LEXMATCH -MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:closeMatch Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957114 LEXMATCH -MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:closeMatch Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957115 LEXMATCH -MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:closeMatch Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957115 LEXMATCH -MONDO:0957337 isolated chorioretinal dystrophy skos:closeMatch Orphanet:519300 Isolated chorioretinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957337 LEXMATCH -MONDO:0957337 isolated chorioretinal dystrophy skos:closeMatch Orphanet:519300 Isolated chorioretinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957337 LEXMATCH -MONDO:0957341 secondary early-onset glaucoma skos:closeMatch Orphanet:519331 Secondary early-onset glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957341 LEXMATCH -MONDO:0957341 secondary early-onset glaucoma skos:closeMatch Orphanet:519331 Secondary early-onset glaucoma semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957341 LEXMATCH -MONDO:0957403 periodic fever syndrome of childhood skos:closeMatch Orphanet:324939 Periodic fever syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957403 LEXMATCH -MONDO:0957403 periodic fever syndrome of childhood skos:closeMatch Orphanet:324939 Periodic fever syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957403 LEXMATCH -MONDO:0957404 pyogenic autoinflammatory syndrome of childhood skos:closeMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957404 LEXMATCH -MONDO:0957404 pyogenic autoinflammatory syndrome of childhood skos:closeMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957404 LEXMATCH -MONDO:0957405 granulomatous autoinflammatory syndrome of childhood skos:closeMatch Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957405 LEXMATCH -MONDO:0957405 granulomatous autoinflammatory syndrome of childhood skos:closeMatch Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957405 LEXMATCH -MONDO:0957408 type 1 interferonopathy of childhood skos:closeMatch Orphanet:481671 Type 1 interferonopathy of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957408 LEXMATCH -MONDO:0957408 type 1 interferonopathy of childhood skos:closeMatch Orphanet:481671 Type 1 interferonopathy of childhood semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957408 LEXMATCH -MONDO:0957421 borna virus encephalitis skos:closeMatch Orphanet:637051 Borna virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:637051 LEXMATCH -MONDO:0957421 borna virus encephalitis skos:closeMatch Orphanet:637051 Borna virus encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957421 LEXMATCH -MONDO:0957421 borna virus encephalitis skos:closeMatch Orphanet:637051 Borna virus encephalitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957421 LEXMATCH -MONDO:0957421 borna virus encephalitis skos:closeMatch Orphanet:637051 Borna virus encephalitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:637051 LEXMATCH -MONDO:0957423 immunotherapy induced hypophysitis skos:closeMatch Orphanet:641350 Immunotherapy induced hypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957423 LEXMATCH -MONDO:0957423 immunotherapy induced hypophysitis skos:closeMatch Orphanet:641350 Immunotherapy induced hypophysitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957423 LEXMATCH -MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:closeMatch Orphanet:641368 Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:641368 LEXMATCH -MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:closeMatch Orphanet:641368 Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957426 LEXMATCH -MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:closeMatch Orphanet:641368 Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957426 LEXMATCH -MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:closeMatch Orphanet:641368 Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:641368 LEXMATCH -MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) skos:closeMatch Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957427 LEXMATCH -MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) skos:closeMatch Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957427 LEXMATCH -MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) skos:closeMatch Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957428 LEXMATCH -MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) skos:closeMatch Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957428 LEXMATCH -MONDO:0957430 childhood-onset schizophrenia skos:closeMatch Orphanet:641496 Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:641496 LEXMATCH -MONDO:0957430 childhood-onset schizophrenia skos:closeMatch Orphanet:641496 Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957430 LEXMATCH -MONDO:0957430 childhood-onset schizophrenia skos:closeMatch Orphanet:641496 Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957430 LEXMATCH -MONDO:0957430 childhood-onset schizophrenia skos:closeMatch Orphanet:641496 Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:641496 LEXMATCH -MONDO:0957431 endogenous Cushing syndrome skos:closeMatch Orphanet:641613 Endogenous Cushing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957431 LEXMATCH -MONDO:0957431 endogenous Cushing syndrome skos:closeMatch Orphanet:641613 Endogenous Cushing syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957431 LEXMATCH -MONDO:0957432 neonatal compartment syndrome skos:closeMatch Orphanet:641829 Neonatal compartment syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957432 LEXMATCH -MONDO:0957432 neonatal compartment syndrome skos:closeMatch Orphanet:641829 Neonatal compartment syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957432 LEXMATCH -MONDO:0957433 primary pulmonary vein stenosis skos:closeMatch Orphanet:642071 Primary pulmonary vein stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957433 LEXMATCH -MONDO:0957433 primary pulmonary vein stenosis skos:closeMatch Orphanet:642071 Primary pulmonary vein stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957433 LEXMATCH -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:closeMatch Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642954 LEXMATCH -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:closeMatch Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957442 LEXMATCH -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:closeMatch Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957442 LEXMATCH -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:closeMatch Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642954 LEXMATCH -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:closeMatch Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:642965 LEXMATCH -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:closeMatch Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957443 LEXMATCH -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:closeMatch Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957443 LEXMATCH -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:closeMatch Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:642965 LEXMATCH -MONDO:0957451 non-terminal myelocystocele skos:closeMatch Orphanet:645340 Non-terminal myelocystocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957451 LEXMATCH -MONDO:0957451 non-terminal myelocystocele skos:closeMatch Orphanet:645340 Non-terminal myelocystocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957451 LEXMATCH -MONDO:0957452 segmental arterial mediolysis skos:closeMatch Orphanet:645350 Segmental arterial mediolysis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957452 LEXMATCH -MONDO:0957452 segmental arterial mediolysis skos:closeMatch Orphanet:645350 Segmental arterial mediolysis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957452 LEXMATCH -MONDO:0957453 true myelomeningocele skos:closeMatch Orphanet:645383 True myelomeningocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957453 LEXMATCH -MONDO:0957453 true myelomeningocele skos:closeMatch Orphanet:645383 True myelomeningocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957453 LEXMATCH -MONDO:0957454 hemi-myelomeningocele skos:closeMatch Orphanet:645388 Hemi-myelomeningocele semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957454 LEXMATCH -MONDO:0957454 hemi-myelomeningocele skos:closeMatch Orphanet:645388 Hemi-myelomeningocele semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957454 LEXMATCH -MONDO:0957456 classical dermatomyositis skos:closeMatch Orphanet:645613 Classical dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645613 LEXMATCH -MONDO:0957456 classical dermatomyositis skos:closeMatch Orphanet:645613 Classical dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957456 LEXMATCH -MONDO:0957456 classical dermatomyositis skos:closeMatch Orphanet:645613 Classical dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957456 LEXMATCH -MONDO:0957456 classical dermatomyositis skos:closeMatch Orphanet:645613 Classical dermatomyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645613 LEXMATCH -MONDO:0957458 adermatopathic dermatomyositis skos:closeMatch Orphanet:645626 Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645626 LEXMATCH -MONDO:0957458 adermatopathic dermatomyositis skos:closeMatch Orphanet:645626 Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957458 LEXMATCH -MONDO:0957458 adermatopathic dermatomyositis skos:closeMatch Orphanet:645626 Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957458 LEXMATCH -MONDO:0957458 adermatopathic dermatomyositis skos:closeMatch Orphanet:645626 Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645626 LEXMATCH -MONDO:0957459 congenital esophageal stenosis skos:closeMatch Orphanet:645749 Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645749 LEXMATCH -MONDO:0957459 congenital esophageal stenosis skos:closeMatch Orphanet:645749 Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957459 LEXMATCH -MONDO:0957459 congenital esophageal stenosis skos:closeMatch Orphanet:645749 Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957459 LEXMATCH -MONDO:0957459 congenital esophageal stenosis skos:closeMatch Orphanet:645749 Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645749 LEXMATCH -MONDO:0957460 spontaneous intestinal perforation skos:closeMatch Orphanet:645793 Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645793 LEXMATCH -MONDO:0957460 spontaneous intestinal perforation skos:closeMatch Orphanet:645793 Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957460 LEXMATCH -MONDO:0957460 spontaneous intestinal perforation skos:closeMatch Orphanet:645793 Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957460 LEXMATCH -MONDO:0957460 spontaneous intestinal perforation skos:closeMatch Orphanet:645793 Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645793 LEXMATCH -MONDO:0957461 primary tuberculous lymphadenitis skos:closeMatch Orphanet:645807 Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645807 LEXMATCH -MONDO:0957461 primary tuberculous lymphadenitis skos:closeMatch Orphanet:645807 Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957461 LEXMATCH -MONDO:0957461 primary tuberculous lymphadenitis skos:closeMatch Orphanet:645807 Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957461 LEXMATCH -MONDO:0957461 primary tuberculous lymphadenitis skos:closeMatch Orphanet:645807 Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645807 LEXMATCH -MONDO:0957462 primary pulmonary tuberculosis skos:closeMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645814 LEXMATCH -MONDO:0957462 primary pulmonary tuberculosis skos:closeMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957462 LEXMATCH -MONDO:0957462 primary pulmonary tuberculosis skos:closeMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957462 LEXMATCH -MONDO:0957462 primary pulmonary tuberculosis skos:closeMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645814 LEXMATCH -MONDO:0957463 primary bone and joint tuberculosis skos:closeMatch Orphanet:645822 Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645822 LEXMATCH -MONDO:0957463 primary bone and joint tuberculosis skos:closeMatch Orphanet:645822 Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957463 LEXMATCH -MONDO:0957463 primary bone and joint tuberculosis skos:closeMatch Orphanet:645822 Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957463 LEXMATCH -MONDO:0957463 primary bone and joint tuberculosis skos:closeMatch Orphanet:645822 Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645822 LEXMATCH -MONDO:0957464 primary cutaneous tuberculosis skos:closeMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645849 LEXMATCH -MONDO:0957464 primary cutaneous tuberculosis skos:closeMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957464 LEXMATCH -MONDO:0957464 primary cutaneous tuberculosis skos:closeMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957464 LEXMATCH -MONDO:0957464 primary cutaneous tuberculosis skos:closeMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645849 LEXMATCH -MONDO:0957465 multifocal tuberculosis skos:closeMatch Orphanet:645854 Multifocal tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645854 LEXMATCH -MONDO:0957465 multifocal tuberculosis skos:closeMatch Orphanet:645854 Multifocal tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957465 LEXMATCH -MONDO:0957465 multifocal tuberculosis skos:closeMatch Orphanet:645854 Multifocal tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957465 LEXMATCH -MONDO:0957465 multifocal tuberculosis skos:closeMatch Orphanet:645854 Multifocal tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645854 LEXMATCH -MONDO:0957466 primary tuberculosis of the digestive system skos:closeMatch Orphanet:645859 Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645859 LEXMATCH -MONDO:0957466 primary tuberculosis of the digestive system skos:closeMatch Orphanet:645859 Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957466 LEXMATCH -MONDO:0957466 primary tuberculosis of the digestive system skos:closeMatch Orphanet:645859 Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957466 LEXMATCH -MONDO:0957466 primary tuberculosis of the digestive system skos:closeMatch Orphanet:645859 Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645859 LEXMATCH -MONDO:0957467 primary genito-urinary tuberculosis skos:closeMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:645874 LEXMATCH -MONDO:0957467 primary genito-urinary tuberculosis skos:closeMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957467 LEXMATCH -MONDO:0957467 primary genito-urinary tuberculosis skos:closeMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957467 LEXMATCH -MONDO:0957467 primary genito-urinary tuberculosis skos:closeMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:645874 LEXMATCH -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:closeMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647681 LEXMATCH -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:closeMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957473 LEXMATCH -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:closeMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957473 LEXMATCH -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:closeMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647681 LEXMATCH -MONDO:0957476 isolated persistent urogenital sinus skos:closeMatch Orphanet:647794 Isolated persistent urogenital sinus semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957476 LEXMATCH -MONDO:0957476 isolated persistent urogenital sinus skos:closeMatch Orphanet:647794 Isolated persistent urogenital sinus semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957476 LEXMATCH -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:closeMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:647799 LEXMATCH -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:closeMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957477 LEXMATCH -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:closeMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957477 LEXMATCH -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:closeMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:647799 LEXMATCH -MONDO:0957481 idiopathic pregnancy-associated osteoporosis skos:closeMatch Orphanet:647823 Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957481 LEXMATCH -MONDO:0957481 idiopathic pregnancy-associated osteoporosis skos:closeMatch Orphanet:647823 Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957481 LEXMATCH -MONDO:0957487 idiopathic catatonia skos:closeMatch Orphanet:648919 Idiopathic catatonia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957487 LEXMATCH -MONDO:0957487 idiopathic catatonia skos:closeMatch Orphanet:648919 Idiopathic catatonia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957487 LEXMATCH -MONDO:0957556 congenital pulmonary vein atresia skos:closeMatch Orphanet:99126 Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99126 LEXMATCH -MONDO:0957556 congenital pulmonary vein atresia skos:closeMatch Orphanet:99126 Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0957556 LEXMATCH -MONDO:0957556 congenital pulmonary vein atresia skos:closeMatch Orphanet:99126 Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:0957556 LEXMATCH -MONDO:0957556 congenital pulmonary vein atresia skos:closeMatch Orphanet:99126 Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99126 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193670 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472817 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:51636 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9297 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:8000006 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:8000006 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:193670 LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:51636 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212720 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796037 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1387 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3406 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:8000008 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:8000008 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:212720 LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:1387 LEXMATCH -MONDO:8000010 antiphospholipid syndrome skos:closeMatch Orphanet:80 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:80 LEXMATCH -MONDO:8000010 antiphospholipid syndrome skos:closeMatch Orphanet:80 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:5824 LEXMATCH -MONDO:8000010 antiphospholipid syndrome skos:closeMatch Orphanet:80 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:8000010 LEXMATCH -MONDO:8000010 antiphospholipid syndrome skos:closeMatch Orphanet:80 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:8000010 LEXMATCH -MONDO:8000010 antiphospholipid syndrome skos:closeMatch Orphanet:80 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:80 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243180 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855733 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:99811 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:3928 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:8000011 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:8000011 LEXMATCH -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:99811 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616263 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:456312 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:17791 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:8000012 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:8000012 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616263 LEXMATCH -MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:456312 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002641 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266427 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:983 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:16552 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:273250 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xy gonadal agenesis syndrome LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:8000015 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:exactMatch-INVERSE mondo:8000015 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:273250 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch rdf:ID orphanet:983 LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:273250 LEXMATCH -MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615559 LEXMATCH -MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:15987 LEXMATCH -MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615559 LEXMATCH +MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618493 LEXMATCH +MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities skos:closeMatch Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618493 LEXMATCH +MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:closeMatch Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618523 LEXMATCH +MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive skos:closeMatch Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618523 LEXMATCH +MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618604 LEXMATCH +MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-fisher syndrome LEXMATCH +MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618604 LEXMATCH +MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch Orphanet:658595 DNMT3A-related microcephalic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heyn-sproul-jackson syndrome LEXMATCH +MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:closeMatch Orphanet:653709 Cone rod dystrophy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617547 LEXMATCH +MONDO:0060507 retinal dystrophy with or without macular staphyloma skos:closeMatch Orphanet:653709 Cone rod dystrophy-short stature syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617547 LEXMATCH +MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617641 LEXMATCH +MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:closeMatch Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617641 LEXMATCH +MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch Orphanet:658813 Methylenetetrahydrofolate dehydrogenase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylenetetrahydrofolate dehydrogenase 1 deficiency LEXMATCH +MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:closeMatch Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619752 LEXMATCH +MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant skos:closeMatch Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619752 LEXMATCH +MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:closeMatch Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620375 LEXMATCH +MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 skos:closeMatch Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620375 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index ef5d54cd..a5bd90ef 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -24,9 +24,7 @@ MONDO:0004167 obsolete lung clear cell carcinoma skos:exactMatch DOID:7267 lung MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 subareolar duct papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 obsolete benign mediastinal neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005111 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebv infection LEXMATCH -MONDO:0005111 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epstein-barr virus infection LEXMATCH -MONDO:0005111 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epstein-barr virus infection LEXMATCH +MONDO:0005111 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d020031 LEXMATCH MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch DOID:0080684 diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma LEXMATCH @@ -34,96 +32,165 @@ MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 renal medu MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal medullary carcinoma LEXMATCH MONDO:0006260 kidney medullary carcinoma skos:exactMatch DOID:0070475 renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kidney medullary carcinoma LEXMATCH MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ladd syndrome LEXMATCH -MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162210 LEXMATCH -MONDO:0008672 Watson syndrome skos:exactMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 LEXMATCH +MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c537835 LEXMATCH +MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:136550 LEXMATCH +MONDO:0007872 LADD syndrome skos:exactMatch DOID:0081370 LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:149730 LEXMATCH +MONDO:0008078 neurofibromatosis, familial spinal skos:exactMatch DOID:0070482 spinal neurofibromatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162210 LEXMATCH +MONDO:0008164 otosclerosis 1 skos:exactMatch DOID:0060920 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:166800 LEXMATCH +MONDO:0008672 Watson syndrome skos:exactMatch DOID:0070483 Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:193520 LEXMATCH +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:220110 LEXMATCH MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch DOID:0080400 orofacial cleft 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zlotogora-ogur syndrome LEXMATCH -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:239300 LEXMATCH -MONDO:0010209 xanthinuria type I skos:exactMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 LEXMATCH -MONDO:0011346 xanthinuria type II skos:exactMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 LEXMATCH +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:exactMatch DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:239300 LEXMATCH +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:256040 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536632 LEXMATCH +MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch DOID:0070509 Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:269150 LEXMATCH +MONDO:0010209 xanthinuria type I skos:exactMatch DOID:0070452 xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:278300 LEXMATCH +MONDO:0010857 semantic dementia skos:exactMatch DOID:0081391 semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia LEXMATCH +MONDO:0011346 xanthinuria type II skos:exactMatch DOID:0070453 xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:603592 LEXMATCH +MONDO:0011586 otosclerosis 2 skos:exactMatch DOID:0060921 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605727 LEXMATCH MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608779 LEXMATCH -MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608850 LEXMATCH +MONDO:0011999 otosclerosis 3 skos:exactMatch DOID:0060922 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608244 LEXMATCH +MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608779 LEXMATCH +MONDO:0012121 otosclerosis 5 skos:exactMatch DOID:0060924 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608787 LEXMATCH +MONDO:0012139 macular dystrophy, retinal, 3 skos:exactMatch DOID:0070440 retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608850 LEXMATCH MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:609446 LEXMATCH -MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 LEXMATCH -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614207 LEXMATCH -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614749 LEXMATCH -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:exactMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615228 LEXMATCH -MONDO:0014299 schwannomatosis 2 skos:exactMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 LEXMATCH -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615716 LEXMATCH +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609446 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567020 LEXMATCH +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611087 LEXMATCH +MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c548032 LEXMATCH +MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611431 LEXMATCH +MONDO:0012696 otosclerosis 4 skos:exactMatch DOID:0060923 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611571 LEXMATCH +MONDO:0012697 otosclerosis 7 skos:exactMatch DOID:0060925 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611572 LEXMATCH +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611913 LEXMATCH +MONDO:0012797 otosclerosis 8 skos:exactMatch DOID:0060926 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:612096 LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH +MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567730 LEXMATCH +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:exactMatch DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614207 LEXMATCH +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:exactMatch DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614749 LEXMATCH +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:exactMatch DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615228 LEXMATCH +MONDO:0014264 otosclerosis 10 skos:exactMatch DOID:0060927 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615589 LEXMATCH +MONDO:0014299 schwannomatosis 2 skos:exactMatch DOID:0070481 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615670 LEXMATCH +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615716 LEXMATCH MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:exactMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4 LEXMATCH -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615889 LEXMATCH -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616025 LEXMATCH +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch DOID:0070396 progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615889 LEXMATCH +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:exactMatch DOID:0081385 ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615919 LEXMATCH +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:exactMatch DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616025 LEXMATCH +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:exactMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616267 LEXMATCH MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6 LEXMATCH -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616809 LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mabry syndrome LEXMATCH +MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 skos:exactMatch DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616809 LEXMATCH +MONDO:0014958 Harel-Yoon syndrome skos:exactMatch DOID:0081395 Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617183 LEXMATCH +MONDO:0015059 progressive non-fluent aphasia skos:exactMatch DOID:0081390 progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia LEXMATCH +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:239300 LEXMATCH +MONDO:0016644 logopenic progressive aphasia skos:exactMatch DOID:0081389 logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch DOID:0070490 infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618049 LEXMATCH MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:151623 LEXMATCH -MONDO:0019349 Sotos syndrome skos:exactMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:117550 LEXMATCH -MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 LEXMATCH -MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618387 LEXMATCH -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:exactMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618120 LEXMATCH +MONDO:0018808 Caroli syndrome skos:exactMatch DOID:0081394 Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome LEXMATCH +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616878 LEXMATCH +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch DOID:0111503 Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:151623 LEXMATCH +MONDO:0019349 Sotos syndrome skos:exactMatch DOID:0112103 Sotos syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:117550 LEXMATCH +MONDO:0019806 primary progressive aphasia skos:exactMatch DOID:0081388 primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia LEXMATCH +MONDO:0020730 carpal tunnel syndrome 1 skos:exactMatch DOID:0070466 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:115430 LEXMATCH +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618387 LEXMATCH +MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 skos:exactMatch DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618120 LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024517 schwannomatosis 1 skos:exactMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 LEXMATCH +MONDO:0024517 schwannomatosis 1 skos:exactMatch DOID:0070480 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162091 LEXMATCH +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:exactMatch DOID:0081384 ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:604391 LEXMATCH MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618832 LEXMATCH -MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 LEXMATCH -MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618912 LEXMATCH -MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 LEXMATCH -MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619425 LEXMATCH -MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 LEXMATCH -MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 LEXMATCH -MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619780 LEXMATCH -MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161 LEXMATCH -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619133 LEXMATCH -MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619966 LEXMATCH -MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair LEXMATCH -MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618528 LEXMATCH -MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 LEXMATCH -MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 LEXMATCH -MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 LEXMATCH +MONDO:0030005 epilepsy, early-onset, with or without developmental delay skos:exactMatch DOID:0070471 early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618832 LEXMATCH +MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:exactMatch DOID:0070424 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618855 LEXMATCH +MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 skos:exactMatch DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618912 LEXMATCH +MONDO:0030073 Mitchell syndrome skos:exactMatch DOID:0070516 Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618960 LEXMATCH +MONDO:0030311 combined oxidative phosphorylation deficiency 52 skos:exactMatch DOID:0070425 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619386 LEXMATCH +MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) skos:exactMatch DOID:0070447 mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619425 LEXMATCH +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic skos:exactMatch DOID:0060917 facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619477 LEXMATCH +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic skos:exactMatch DOID:0060918 facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619478 LEXMATCH +MONDO:0030378 combined oxidative phosphorylation deficiency 53 skos:exactMatch DOID:0070426 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619423 LEXMATCH +MONDO:0030543 combined oxidative phosphorylation deficiency 54 skos:exactMatch DOID:0070427 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619737 LEXMATCH +MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) skos:exactMatch DOID:0070451 mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619780 LEXMATCH +MONDO:0030883 carpal tunnel syndrome 2 skos:exactMatch DOID:0070467 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619161 LEXMATCH +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:exactMatch DOID:0081380 amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619133 LEXMATCH +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch DOID:0060919 proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619175 LEXMATCH +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 skos:exactMatch DOID:0060915 proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619183 LEXMATCH +MONDO:0031019 spastic paraplegia 87, autosomal recessive skos:exactMatch DOID:0070456 hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619966 LEXMATCH +MONDO:0031166 macular dystrophy, retinal skos:exactMatch DOID:0070438 retinal macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:136550 LEXMATCH +MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:616901 LEXMATCH +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:exactMatch DOID:0081398 holoprosencephaly 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618500 LEXMATCH +MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:exactMatch DOID:0070446 mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618528 LEXMATCH +MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:exactMatch DOID:0070448 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618567 LEXMATCH +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618810 LEXMATCH +MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:exactMatch DOID:0070449 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618811 LEXMATCH +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:exactMatch DOID:0070470 chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618815 LEXMATCH +MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:exactMatch DOID:0070450 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618972 LEXMATCH +MONDO:0033618 Vissers-Bodmer syndrome skos:exactMatch DOID:0081397 Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619033 LEXMATCH +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 skos:exactMatch DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619046 LEXMATCH +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 skos:exactMatch DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619048 LEXMATCH +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 skos:exactMatch DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619051 LEXMATCH +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 skos:exactMatch DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619052 LEXMATCH +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 skos:exactMatch DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619053 LEXMATCH +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 skos:exactMatch DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619054 LEXMATCH +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 skos:exactMatch DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619055 LEXMATCH +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 skos:exactMatch DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619058 LEXMATCH +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 skos:exactMatch DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619059 LEXMATCH +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 skos:exactMatch DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619060 LEXMATCH +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 skos:exactMatch DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619061 LEXMATCH +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 skos:exactMatch DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619062 LEXMATCH +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 skos:exactMatch DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619063 LEXMATCH +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 skos:exactMatch DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619064 LEXMATCH +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 skos:exactMatch DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619065 LEXMATCH MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH -MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 LEXMATCH -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617892 LEXMATCH -MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617921 LEXMATCH +MONDO:0044315 craniosynostosis 7 skos:exactMatch DOID:0060912 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617439 LEXMATCH +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch DOID:0070474 childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617672 LEXMATCH +MONDO:0054560 anauxetic dysplasia 1 skos:exactMatch DOID:0050640 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:607095 LEXMATCH +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch DOID:0060916 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617591 LEXMATCH +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:exactMatch DOID:0060914 proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618048 LEXMATCH +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:exactMatch DOID:0081378 amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617892 LEXMATCH +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:exactMatch DOID:0070489 classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613135 LEXMATCH +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617755 LEXMATCH +MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 skos:exactMatch DOID:0081379 amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617921 LEXMATCH MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620062 LEXMATCH -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616901 LEXMATCH -MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 LEXMATCH -MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 LEXMATCH -MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619681 LEXMATCH -MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 LEXMATCH -MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 LEXMATCH -MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 LEXMATCH -MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 LEXMATCH -MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620106 LEXMATCH -MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 LEXMATCH -MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 LEXMATCH -MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620221 LEXMATCH -MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620285 LEXMATCH -MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619977 LEXMATCH -MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 LEXMATCH -MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 LEXMATCH -MONDO:0957215 congenital myopathy 20 skos:exactMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 LEXMATCH -MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:exactMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620323 LEXMATCH -MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620326 LEXMATCH -MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620351 LEXMATCH -MONDO:0957248 developmental and epileptic encephalopathy 31B skos:exactMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 LEXMATCH -MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620358 LEXMATCH -MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620359 LEXMATCH -MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620369 LEXMATCH -MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620379 LEXMATCH -MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620386 LEXMATCH -MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620389 LEXMATCH -MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620416 LEXMATCH -MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620417 LEXMATCH +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:exactMatch DOID:0070478 diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620062 LEXMATCH +MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch DOID:0070487 dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome LEXMATCH +MONDO:0700200 atypical dopamine transporter deficiency syndrome skos:exactMatch DOID:0070488 atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome LEXMATCH +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:exactMatch DOID:0070477 diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616901 LEXMATCH +MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619333 LEXMATCH +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619355 LEXMATCH +MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619480 LEXMATCH +MONDO:0859209 Zaki syndrome skos:exactMatch DOID:0070473 Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619648 LEXMATCH +MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch DOID:0070445 early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619681 LEXMATCH +MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch DOID:0070468 Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619701 LEXMATCH +MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch DOID:0070428 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619743 LEXMATCH +MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch DOID:0070444 neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619908 LEXMATCH +MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620070 LEXMATCH +MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch DOID:0070457 hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620106 LEXMATCH +MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch DOID:0070429 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620139 LEXMATCH +MONDO:0859337 combined oxidative phosphorylation deficiency 57 skos:exactMatch DOID:0070430 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620167 LEXMATCH +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620199 LEXMATCH +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch DOID:0070455 hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620221 LEXMATCH +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620275 LEXMATCH +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620285 LEXMATCH +MONDO:0859568 macular dystrophy, retinal, 4 skos:exactMatch DOID:0070441 retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619977 LEXMATCH +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 skos:exactMatch DOID:0081371 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620192 LEXMATCH +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 skos:exactMatch DOID:0081372 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620193 LEXMATCH +MONDO:0957203 intellectual developmental disorder, X-linked 111 skos:exactMatch DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301107 LEXMATCH +MONDO:0957215 congenital myopathy 20 skos:exactMatch DOID:0081352 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620310 LEXMATCH +MONDO:0957221 spastic paraplegia 70, autosomal recessive skos:exactMatch DOID:0070454 hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620323 LEXMATCH +MONDO:0957224 congenital myopathy 21 with early respiratory failure skos:exactMatch DOID:0081353 congenital myopathy 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620326 LEXMATCH +MONDO:0957247 congenital myopathy 22A, classic skos:exactMatch DOID:0081354 congenital myopathy 22A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620351 LEXMATCH +MONDO:0957248 developmental and epileptic encephalopathy 31B skos:exactMatch DOID:0070376 developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620352 LEXMATCH +MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A skos:exactMatch DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620358 LEXMATCH +MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 skos:exactMatch DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620359 LEXMATCH +MONDO:0957265 congenital myopathy 22B, severe fetal skos:exactMatch DOID:0081355 congenital myopathy 22B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620369 LEXMATCH +MONDO:0957274 spastic paraplegia 89, autosomal recessive skos:exactMatch DOID:0070458 hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620379 LEXMATCH +MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset skos:exactMatch DOID:0081374 nemaline myopathy 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620386 LEXMATCH +MONDO:0957284 nemaline myopathy 5C, autosomal dominant skos:exactMatch DOID:0081375 nemaline myopathy 5C semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620389 LEXMATCH +MONDO:0957308 spastic paraplegia 90A, autosomal dominant skos:exactMatch DOID:0070459 hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620416 LEXMATCH +MONDO:0957309 spastic paraplegia 90B, autosomal recessive skos:exactMatch DOID:0070460 hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620417 LEXMATCH +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620428 LEXMATCH MONDO:0957497 disabling pansclerotic morphea of childhood skos:exactMatch DOID:0081373 disabling pansclerotic morphea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disabling pansclerotic morphea of childhood LEXMATCH -MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620452 LEXMATCH +MONDO:0957538 amyotrophic lateral sclerosis 28 skos:exactMatch DOID:0081382 amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620452 LEXMATCH +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures skos:exactMatch DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620455 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index 050e8cd2..af197540 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -884,7 +884,7 @@ MONDO:0007011 uveoparotid fever skos:exactMatch ICD10CM:D86.89 Sarcoidosis of ot MONDO:0007011 uveoparotid fever skos:exactMatch ICD10CM:D86.89 Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uveoparotid fever LEXMATCH MONDO:0007016 vitamin A deficiency skos:exactMatch ICD10CM:E50 Vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin a deficiency LEXMATCH MONDO:0007017 vitreous detachment skos:exactMatch ICD10CM:H43.81 Vitreous degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitreous detachment LEXMATCH -MONDO:0007027 non-alcoholic steatohepatitis skos:exactMatch ICD10CM:K75.81 Nonalcoholic steatohepatitis (NASH) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic steatohepatitis LEXMATCH +MONDO:0007027 metabolic dysfunction-associated steatohepatitis skos:exactMatch ICD10CM:K75.81 Nonalcoholic steatohepatitis (NASH) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic steatohepatitis LEXMATCH MONDO:0007032 prune belly syndrome skos:exactMatch ICD10CM:Q79.4 Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome LEXMATCH MONDO:0007079 alcohol dependence skos:exactMatch ICD10CM:F10.2 Alcohol dependence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol dependence LEXMATCH MONDO:0007099 familial visceral amyloidosis skos:exactMatch ICD10CM:E85.0 Non-neuropathic heredofamilial amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy LEXMATCH @@ -1175,7 +1175,6 @@ MONDO:0010098 taurodontism skos:exactMatch ICD10CM:K00.2 Abnormalities of size a MONDO:0010138 thyrotoxicosis skos:exactMatch ICD10CM:E05 Thyrotoxicosis [hyperthyroidism] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyrotoxicosis LEXMATCH MONDO:0010193 Weaver syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome LEXMATCH MONDO:0010193 Weaver syndrome skos:exactMatch ICD10CM:Q87.3 Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weaver syndrome LEXMATCH -MONDO:0010200 Wilson disease skos:exactMatch ICD10CM:E83.01 Wilson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wilson's disease LEXMATCH MONDO:0010229 alopecia, congenital skos:exactMatch ICD10CM:Q84.0 Congenital alopecia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alopecia LEXMATCH MONDO:0010269 Coats disease skos:exactMatch ICD10CM:H35.02 Exudative retinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative retinopathy LEXMATCH MONDO:0010383 fragile X syndrome skos:exactMatch ICD10CM:Q99.2 Fragile X chromosome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fragile x syndrome LEXMATCH @@ -1191,7 +1190,7 @@ MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX defi MONDO:0010604 hemophilia B skos:exactMatch ICD10CM:D67 Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b LEXMATCH MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch ICD10CM:Q80.1 X-linked ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked ichthyosis LEXMATCH MONDO:0010631 incontinentia pigmenti skos:exactMatch ICD10CM:Q82.3 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:exactMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked myotubular myopathy LEXMATCH +MONDO:0010683 X-linked myotubular myopathy skos:exactMatch ICD10CM:G71.220 X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myotubular myopathy LEXMATCH MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch ICD10CM:E72.4 Disorders of ornithine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency LEXMATCH MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch ICD10CM:H49.81 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kearns-sayre syndrome LEXMATCH MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch ICD10CM:H47.22 Hereditary optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leber's optic atrophy LEXMATCH @@ -1244,6 +1243,7 @@ MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch ICD1 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch ICD10CM:E79.2 Myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoadenylate deaminase deficiency LEXMATCH MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch ICD10CM:D68.59 Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym antithrombin iii deficiency LEXMATCH MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch ICD10CM:E72.81 Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaba transaminase deficiency LEXMATCH +MONDO:0013209 metabolic dysfunction-associated steatotic liver disease skos:exactMatch ICD10CM:K76.0 Fatty (change of) liver, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic fatty liver disease LEXMATCH MONDO:0013300 commissural facial cleft skos:exactMatch ICD10CM:Q18.4 Macrostomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrostomia LEXMATCH MONDO:0013433 primary sclerosing cholangitis skos:exactMatch ICD10CM:K83.01 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis LEXMATCH MONDO:0013571 acatalasia skos:exactMatch ICD10CM:E80.3 Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acatalasia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv index 09be82ba..cc90a4c0 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10who.tsv @@ -850,7 +850,7 @@ MONDO:0011438 acne skos:exactMatch ICD10WHO:L70.0 Acne vulgaris semapv:LexicalMa MONDO:0011438 acne skos:exactMatch ICD10WHO:L70.2 Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis LEXMATCH MONDO:0011644 pars planitis skos:exactMatch ICD10WHO:H30.2 Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis LEXMATCH MONDO:0011662 pathological gambling skos:exactMatch ICD10WHO:F63.0 Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling LEXMATCH -MONDO:0011728 blepharospasm skos:exactMatch ICD10WHO:G24.5 Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm LEXMATCH +MONDO:0011728 benign essential blepharospasm skos:exactMatch ICD10WHO:G24.5 Blepharospasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blepharospasm LEXMATCH MONDO:0011827 patent ductus arteriosus skos:exactMatch ICD10WHO:Q25.0 Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus LEXMATCH MONDO:0011849 psoriatic arthritis skos:exactMatch ICD10WHO:L40.5 Arthropathic psoriasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arthropathic psoriasis LEXMATCH MONDO:0011989 leishmaniasis skos:exactMatch ICD10WHO:B55 Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index 45536c82..39b7b76e 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -4,6 +4,7 @@ MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Di MONDO:0001061 pylorus cancer skos:exactMatch NCIT:C188051 Malignant Pylorus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant pylorus neoplasm LEXMATCH MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm LEXMATCH MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma LEXMATCH +MONDO:0002063 obsolete breast papillomatosis skos:exactMatch NCIT:C6977 Breast Papillomatosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor LEXMATCH MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm LEXMATCH MONDO:0002132 skull cancer skos:exactMatch NCIT:C155790 Malignant Skull Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant skull neoplasm LEXMATCH @@ -30,7 +31,6 @@ MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producin MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma LEXMATCH MONDO:0005065 mesothelioma skos:exactMatch NCIT:C3234 Mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005362 erectile dysfunction skos:exactMatch NCIT:C34801 Male Erectile Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney leiomyoma LEXMATCH MONDO:0006295 malignant urinary system neoplasm skos:exactMatch NCIT:C192668 Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant urinary tract neoplasm LEXMATCH MONDO:0006315 obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm skos:exactMatch NCIT:C37005 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index fc228313..2c2add35 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -1,121 +1,118 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch OMIM:607655 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014695 glioma susceptibility 9 skos:exactMatch OMIM:616568 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:exactMatch OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym actb-associated syndromic thrombocytopenia LEXMATCH -MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification comment +MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv index e95d7990..7cf0bb6c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -3,13 +3,13 @@ MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:ex MONDO:0000169 microphthalmia, isolated, with cataract skos:exactMatch OMIMPS:156850 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000204 obsolete skin creases, congenital symmetric circumferential skos:exactMatch OMIMPS:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002010 FG syndrome skos:exactMatch OMIMPS:305400 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002010 FG syndrome skos:exactMatch OMIMPS:305450 FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome LEXMATCH MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch OMIMPS:109400 Basal cell nevus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label basal cell nevus syndrome LEXMATCH MONDO:0007239 epidermolytic ichthyosis skos:exactMatch OMIMPS:113800 Epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolytic hyperkeratosis LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:exactMatch OMIMPS:135150 Birt-Hogg-Dube syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label birt-hogg-dube syndrome LEXMATCH MONDO:0007709 hematuria, benign familial skos:exactMatch OMIMPS:141200 Hematuria, benign familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hematuria, benign familial LEXMATCH MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch OMIMPS:164300 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy LEXMATCH MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIMPS:609628 Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic recurrent multifocal osteomyelitis LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:exactMatch OMIMPS:278000 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid lipase deficiency LEXMATCH MONDO:0011612 glycine encephalopathy skos:exactMatch OMIMPS:605899 Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy LEXMATCH MONDO:0012033 bradyopsia skos:exactMatch OMIMPS:608415 Prolonged electroretinal response suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prolonged electroretinal response suppression LEXMATCH MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch OMIMPS:609015 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency LEXMATCH @@ -18,6 +18,7 @@ MONDO:0015397 craniofacial microsomia 1 skos:exactMatch OMIMPS:164210 Craniofaci MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIMPS:300000 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome LEXMATCH MONDO:0020627 epileptic encephalopathy, infantile or early childhood skos:exactMatch OMIMPS:617711 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy, autosomal recessive LEXMATCH MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch OMIMPS:105500 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 72f39a91..77acc3af 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -1,10328 +1,929 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000001 disease skos:exactMatch Orphanet:377788 Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disease LEXMATCH -MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder LEXMATCH -MONDO:0000023 infantile liver failure skos:exactMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fever-associated acute infantile liver failure syndrome LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ighd LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital isolated gh deficiency LEXMATCH -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency LEXMATCH -MONDO:0000087 polymicrogyria skos:exactMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria LEXMATCH -MONDO:0000107 auriculocondylar syndrome skos:exactMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auriculocondylar syndrome LEXMATCH -MONDO:0000110 bifid nose skos:exactMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bifid nose LEXMATCH -MONDO:0000127 geleophysic dysplasia skos:exactMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geleophysic dysplasia LEXMATCH -MONDO:0000128 giant axonal neuropathy skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome LEXMATCH -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome LEXMATCH -MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis spinulosa decalvans LEXMATCH -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome LEXMATCH -MONDO:0000153 transposition of the great arteries skos:exactMatch Orphanet:216675 Transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transposition of the great arteries LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-anophthalmia-coloboma syndrome LEXMATCH -MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colobomatous microphthalmia LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard syndrome LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephalus-agyria-retinal dysplasia syndrome LEXMATCH -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label walker-warburg syndrome LEXMATCH -MONDO:0000179 Neu-Laxova syndrome skos:exactMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neu-laxova syndrome LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:exactMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 11-beta-hydroxysteroid dehydrogenase deficiency type 1 LEXMATCH -MONDO:0000193 cortisone reductase deficiency skos:exactMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperandrogenism due to cortisone reductase deficiency LEXMATCH -MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zimmermann-laband syndrome LEXMATCH -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures skos:exactMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prenatal-onset spinal muscular atrophy with congenital bone fractures LEXMATCH -MONDO:0000211 striatal degeneration, autosomal dominant skos:exactMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant striatal neurodegeneration LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:exactMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial infantile hypercalcemia with suppressed intact parathyroid hormone LEXMATCH -MONDO:0000212 hypercalcemia, infantile skos:exactMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive infantile hypercalcemia LEXMATCH -MONDO:0000330 endemic typhus skos:exactMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label murine typhus LEXMATCH -MONDO:0000330 endemic typhus skos:exactMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endemic typhus LEXMATCH -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scleroatonic muscular dystrophy LEXMATCH -MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital glaucoma LEXMATCH -MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary congenital glaucoma LEXMATCH -MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated polycystic liver disease LEXMATCH -MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant polycystic liver disease LEXMATCH -MONDO:0000455 cone dystrophy skos:exactMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cone dystrophy LEXMATCH -MONDO:0000455 cone dystrophy skos:exactMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone dystrophy LEXMATCH -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral creatine deficiency syndrome LEXMATCH -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label creatine deficiency syndrome LEXMATCH -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch Orphanet:79172 Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral creatine deficiency syndrome LEXMATCH -MONDO:0000463 Ochoa syndrome skos:exactMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ochoa syndrome LEXMATCH -MONDO:0000476 generalized dystonia skos:exactMatch Orphanet:376724 Generalized isolated dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized isolated dystonia LEXMATCH -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy with paget disease of bone and frontotemporal dementia LEXMATCH -MONDO:0000565 infective endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infective endocarditis LEXMATCH -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy LEXMATCH -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy LEXMATCH -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor LEXMATCH -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cns pnet LEXMATCH -MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign tumor of fallopian tubes LEXMATCH -MONDO:0000688 inborn organic aciduria skos:exactMatch Orphanet:289899 Organic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label organic aciduria LEXMATCH -MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria LEXMATCH -MONDO:0000754 anal fistula skos:exactMatch Orphanet:228113 Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula LEXMATCH -MONDO:0000827 salmonellosis skos:exactMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare form of salmonellosis LEXMATCH -MONDO:0000845 fibrous dysplasia skos:exactMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrous dysplasia of bone LEXMATCH MONDO:0000859 spina bifida occulta skos:exactMatch Orphanet:645202 Closed spinal dysraphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida occulta LEXMATCH MONDO:0000859 spina bifida occulta skos:exactMatch Orphanet:645202 Closed spinal dysraphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label closed spinal dysraphism LEXMATCH MONDO:0000859 spina bifida occulta skos:exactMatch Orphanet:645202 Closed spinal dysraphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida occulta LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, lactic acidosis and sideroblastic anemia LEXMATCH -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym andermann syndrome LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charlevoix disease LEXMATCH -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label corpus callosum agenesis-neuronopathy syndrome LEXMATCH -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonus-dystonia syndrome LEXMATCH -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary multi-infarct dementia LEXMATCH -MONDO:0001029 Klippel-Feil syndrome skos:exactMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-feil sequence LEXMATCH -MONDO:0001032 Mooren ulcer skos:exactMatch Orphanet:519408 Mooren ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mooren ulcer LEXMATCH -MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia LEXMATCH -MONDO:0001195 spotted fever skos:exactMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spotted fever rickettsiae disease LEXMATCH -MONDO:0001195 spotted fever skos:exactMatch Orphanet:102022 Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spotted fever rickettsiosis LEXMATCH -MONDO:0001246 typhus skos:exactMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym typhus-group rickettsiae disease LEXMATCH -MONDO:0001246 typhus skos:exactMatch Orphanet:102023 Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label typhus-group rickettsiosis LEXMATCH -MONDO:0001280 choroiditis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroiditis LEXMATCH -MONDO:0001280 choroiditis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroiditis LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancer of penis LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant penile tumor LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile cancer LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant tumor of penis LEXMATCH -MONDO:0001325 penile cancer skos:exactMatch Orphanet:398043 Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym penile cancer LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral myopathy LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fsh dystrophy LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landouzy-dejerine myopathy LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facioscapulohumeral dystrophy LEXMATCH -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facioscapulohumeral muscular dystrophy LEXMATCH -MONDO:0001444 Chagas disease skos:exactMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chagas disease LEXMATCH -MONDO:0001444 Chagas disease skos:exactMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chagas disease LEXMATCH -MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thygeson superficial punctate keratitis LEXMATCH -MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch Orphanet:544458 Hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemolytic uremic syndrome LEXMATCH -MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurilemoma LEXMATCH -MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurinoma LEXMATCH -MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neuroma LEXMATCH -MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vestibular schwannoma LEXMATCH -MONDO:0001569 acoustic neuroma skos:exactMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acoustic neuroma LEXMATCH -MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 1 LEXMATCH -MONDO:0001595 choreatic disease skos:exactMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial chorea LEXMATCH MONDO:0001633 central retinal artery occlusion skos:exactMatch Orphanet:648684 Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion LEXMATCH -MONDO:0001703 color vision disorder skos:exactMatch Orphanet:98658 Color-vision disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label color-vision disease LEXMATCH -MONDO:0001734 tuberous sclerosis skos:exactMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bourneville syndrome LEXMATCH -MONDO:0001734 tuberous sclerosis skos:exactMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis LEXMATCH -MONDO:0001734 tuberous sclerosis skos:exactMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberous sclerosis complex LEXMATCH -MONDO:0001734 tuberous sclerosis skos:exactMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberous sclerosis LEXMATCH -MONDO:0001790 spinal cord lipoma skos:exactMatch Orphanet:645276 Spinal cord lipoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord lipoma LEXMATCH -MONDO:0001818 facial neuralgia skos:exactMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facial neuralgia LEXMATCH -MONDO:0001881 toxic shock syndrome skos:exactMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial tss LEXMATCH -MONDO:0001881 toxic shock syndrome skos:exactMatch Orphanet:36234 Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bacterial toxic-shock syndrome LEXMATCH -MONDO:0001901 selective IgG subclass deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym selective igg subclass deficiency LEXMATCH -MONDO:0001907 adult dermatomyositis skos:exactMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult dermatomyositis LEXMATCH -MONDO:0001945 postencephalitic Parkinson disease skos:exactMatch Orphanet:97349 Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism LEXMATCH -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary hyperpermeability syndrome LEXMATCH -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary leak syndrome LEXMATCH -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clarkson disease LEXMATCH -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic capillary leak syndrome LEXMATCH -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label systemic capillary leak syndrome LEXMATCH -MONDO:0001956 capillary leak syndrome skos:exactMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary leak syndrome LEXMATCH -MONDO:0001971 farmer's lung disease skos:exactMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label farmer's lung disease LEXMATCH -MONDO:0002013 lymphangioma skos:exactMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphangioma LEXMATCH -MONDO:0002013 lymphangioma skos:exactMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangioma LEXMATCH -MONDO:0002016 benign familial neonatal epilepsy skos:exactMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial neonatal epilepsy LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma LEXMATCH -MONDO:0002096 malignant conjunctival melanoma skos:exactMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma LEXMATCH -MONDO:0002142 undifferentiated pleomorphic sarcoma skos:exactMatch Orphanet:2023 Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated pleomorphic sarcoma LEXMATCH -MONDO:0002145 disorder of sexual differentiation skos:exactMatch Orphanet:90771 Difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of sex development LEXMATCH -MONDO:0002158 fallopian tube cancer skos:exactMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancer of fallopian tubes LEXMATCH -MONDO:0002158 fallopian tube cancer skos:exactMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant tubal tumor LEXMATCH -MONDO:0002158 fallopian tube cancer skos:exactMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubal cancer LEXMATCH -MONDO:0002158 fallopian tube cancer skos:exactMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant tumor of fallopian tubes LEXMATCH -MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary lymphangioma LEXMATCH -MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary lymphangioma LEXMATCH -MONDO:0002303 central retinal vein occlusion skos:exactMatch Orphanet:411527 Central retinal vein occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal vein occlusion LEXMATCH -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic inflammatory demyelinating polyneuropathy LEXMATCH -MONDO:0002350 familial nephrotic syndrome skos:exactMatch Orphanet:564127 Genetic nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary nephrotic syndrome LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:exactMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis LEXMATCH -MONDO:0002412 disorder of glycogen metabolism skos:exactMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6p deficiency LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to g6p deficiency LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 1 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type i LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 1 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type i LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to g6p deficiency LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 1 LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type i LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal glycogenosis LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von gierke disease LEXMATCH -MONDO:0002413 glycogen storage disease I skos:exactMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease due to glucose-6-phosphatase deficiency LEXMATCH -MONDO:0002422 adamantinoma skos:exactMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adamantinoma LEXMATCH -MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic interstitial pneumonia LEXMATCH -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jervell and lange-nielsen syndrome LEXMATCH -MONDO:0002457 Treacher-Collins syndrome skos:exactMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher-collins syndrome LEXMATCH -MONDO:0002474 primary hyperoxaluria skos:exactMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria LEXMATCH -MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor LEXMATCH -MONDO:0002546 schwannoma skos:exactMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurilemmoma LEXMATCH -MONDO:0002546 schwannoma skos:exactMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral fibroblastoma LEXMATCH -MONDO:0002546 schwannoma skos:exactMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign schwannoma LEXMATCH -MONDO:0002561 lysosomal storage disease skos:exactMatch Orphanet:68366 Lysosomal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lysosomal disease LEXMATCH -MONDO:0002571 primary central nervous system lymphoma skos:exactMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary central nervous system lymphoma LEXMATCH -MONDO:0002588 thymoma type A skos:exactMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type a LEXMATCH -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disease LEXMATCH -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disease of the breast LEXMATCH -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mammary paget disease LEXMATCH -MONDO:0002653 Paget disease of the penis skos:exactMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile adenocarcinoma LEXMATCH -MONDO:0002675 neurofibrosarcoma skos:exactMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibrosarcoma LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical choroid plexus papilloma LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical cpp LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical papilloma of choroid plexus LEXMATCH -MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical choroid plexus papilloma LEXMATCH -MONDO:0002687 superior mesenteric artery syndrome skos:exactMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome LEXMATCH -MONDO:0002718 central nervous system teratoma skos:exactMatch Orphanet:252018 Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label teratoma of the central nervous system LEXMATCH -MONDO:0002728 rhabdoid tumor skos:exactMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor LEXMATCH -MONDO:0002735 anal canal adenocarcinoma skos:exactMatch Orphanet:424016 Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the anal canal LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:exactMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian adenocarcinoma LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:exactMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of ovary LEXMATCH -MONDO:0002752 ovarian adenocarcinoma skos:exactMatch Orphanet:213504 Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian adenocarcinoma LEXMATCH -MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma LEXMATCH -MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial transitional cell carcinoma LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:exactMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical adenosarcoma LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:exactMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosarcoma of the cervix uteri LEXMATCH -MONDO:0002876 cervical adenosarcoma skos:exactMatch Orphanet:213792 Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenosarcoma LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical carcinosarcoma LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical malignant müllerian mixed tumor LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant müllerian mixed tumor of the cervix uteri LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinosarcoma of the cervix uteri LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch Orphanet:213787 Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical carcinosarcoma LEXMATCH -MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch Orphanet:213600 Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosarcoma of the corpus uteri LEXMATCH -MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine neoplasm of the colon LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:exactMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of vulva LEXMATCH -MONDO:0002955 vulva basal cell carcinoma skos:exactMatch Orphanet:494451 Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vulvar basal cell carcinoma LEXMATCH -MONDO:0002999 central nervous system germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germinoma of the central nervous system LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell adenocarcinoma LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell carcinoma LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell renal cell adenocarcinoma LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell renal cell carcinoma LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular cystic renal cell adenocarcinoma LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular cystic renal cell carcinoma LEXMATCH -MONDO:0003010 multilocular clear cell renal cell carcinoma skos:exactMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multilocular clear cell renal cell carcinoma LEXMATCH -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma skos:exactMatch Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucinous tubular and spindle cell renal carcinoma LEXMATCH -MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bile duct cancer LEXMATCH -MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer LEXMATCH -MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of stomach LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular sex cord-stromal tumor LEXMATCH -MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch Orphanet:363489 Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sex cord-stromal tumor of testis LEXMATCH -MONDO:0003144 medulloepithelioma skos:exactMatch Orphanet:251883 Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medulloepithelioma of the central nervous system LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:exactMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of the small bowel LEXMATCH -MONDO:0003198 small intestine adenocarcinoma skos:exactMatch Orphanet:104075 Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the small intestine LEXMATCH -MONDO:0003266 ependymal tumor skos:exactMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymal tumor LEXMATCH -MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hilar cca LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hilar cholangiocarcinoma LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label klatskin tumor LEXMATCH -MONDO:0003345 hilar cholangiocarcinoma skos:exactMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hilar cholangiocarcinoma LEXMATCH -MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leiomyosarcoma of small intestine LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calcified epithelial carcinoma of malherbe LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calcifying epitheliocarcinoma LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant pilomatricoma LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichomatrical carcinoma LEXMATCH -MONDO:0003414 skin pilomatrix carcinoma skos:exactMatch Orphanet:499182 Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pilomatrix carcinoma LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocrine active pituitary adenoma LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secreting pituitary adenoma LEXMATCH -MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label functioning pituitary adenoma LEXMATCH -MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrinoma LEXMATCH -MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym precursor lymphoid neoplasm LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic serous cystadenocarcinoma LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous cystadenocarcinoma of pancreas LEXMATCH -MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic serous cystadenocarcinoma LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the rectum LEXMATCH -MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal net LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal nen LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal neuroendocrine neoplasm LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nen of esophagus LEXMATCH -MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch Orphanet:506136 Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine neoplasm of esophagus LEXMATCH -MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminoma of testis LEXMATCH -MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminomatous germ cell tumor of testis LEXMATCH -MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular seminoma LEXMATCH -MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label testicular seminomatous germ cell tumor LEXMATCH -MONDO:0003669 testicular seminoma skos:exactMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular seminoma LEXMATCH -MONDO:0003761 leptomeningeal melanoma skos:exactMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant melanoma of meninges LEXMATCH -MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary papillary renal cell carcinoma LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmmt of the ovary LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian carcinosarcoma LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant mixed epithelial mesenchymal tumor LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant mixed müllerian tumor LEXMATCH -MONDO:0003792 ovarian carcinosarcoma skos:exactMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian carcinosarcoma LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:exactMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell ovarian carcinoma LEXMATCH -MONDO:0003795 ovarian small cell carcinoma skos:exactMatch Orphanet:370396 Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label small cell carcinoma of the ovary LEXMATCH -MONDO:0003832 complement deficiency skos:exactMatch Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency due to a complement cascade component deficiency LEXMATCH -MONDO:0003878 malignant choroid melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal melanoma LEXMATCH -MONDO:0003964 myositis ossificans skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myositis ossificans progressiva LEXMATCH -MONDO:0004035 glomangiomatosis skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomangiomatosis LEXMATCH -MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome LEXMATCH -MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera LEXMATCH -MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris melanoma LEXMATCH -MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris melanoma LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly differentiated neuroendocrine carcinoma of the bladder LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell bladder cancer LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell bladder carcinoma LEXMATCH -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:exactMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell carcinoma of the urinary bladder LEXMATCH -MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch Orphanet:424019 Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the anal canal LEXMATCH -MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma LEXMATCH -MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma LEXMATCH -MONDO:0004187 nodular fasciitis skos:exactMatch Orphanet:477742 Nodular fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular fasciitis LEXMATCH -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleomorphic rhabdomyosarcoma LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic lymphoproliferative disorder of nk-cells LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nk lymphocytosis LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nk-cell lymphocytosis LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clpd-nk LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nk-cell lineage granular lymphocyte proliferative disorder LEXMATCH -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells skos:exactMatch Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic lymphoproliferative disorder of nk-cells LEXMATCH -MONDO:0004241 Osgood-Schlatter disease skos:exactMatch Orphanet:97335 Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osgood-schlatter disease LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic intraductal papillary mucinous carcinoma LEXMATCH -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:exactMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intraductal papillary mucinous carcinoma of pancreas LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning pancreatic net LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning pancreatic neuroendocrine tumor LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning pnet LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated nen of pancreas LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated neuroendocrine neoplasm of pancreas LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated pancreatic nen LEXMATCH -MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated pancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0004351 intraocular lymphoma skos:exactMatch Orphanet:279904 Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary intraocular lymphoma LEXMATCH -MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor LEXMATCH -MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital granular cell tumor LEXMATCH -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance skos:exactMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic hodgkin lymphoma, lymphocyte-rich type LEXMATCH -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion skos:exactMatch Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic hodgkin lymphoma, lymphocyte-depleted type LEXMATCH -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity skos:exactMatch Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic hodgkin lymphoma, mixed cellularity type LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute myeloid leukemia LEXMATCH -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical chronic myeloid leukemia LEXMATCH -MONDO:0004684 plantar fibromatosis skos:exactMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plantar fibromatosis LEXMATCH -MONDO:0004684 plantar fibromatosis skos:exactMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plantar fibromatosis LEXMATCH -MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant polycystic kidney disease LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym posner-schlossman syndrome LEXMATCH -MONDO:0004772 glaucomatocyclitic crisis skos:exactMatch Orphanet:636950 Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glaucomatocyclitic crisis disease LEXMATCH -MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis LEXMATCH -MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis LEXMATCH -MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis LEXMATCH -MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lens-induced iridocyclitis LEXMATCH -MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic eosinophilic pneumonia LEXMATCH -MONDO:0004907 alopecia skos:exactMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia LEXMATCH -MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median arcuate ligament syndrome LEXMATCH -MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome LEXMATCH -MONDO:0004927 dacryocystocele skos:exactMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dacryocystocele LEXMATCH -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome LEXMATCH -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:exactMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell chronic lymphocytic leukemia LEXMATCH -MONDO:0004952 Hodgkins lymphoma skos:exactMatch Orphanet:98293 Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hodgkin lymphoma LEXMATCH -MONDO:0004958 oral cavity squamous cell carcinoma skos:exactMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the oral cavity LEXMATCH -MONDO:0004959 plasma cell neoplasm skos:exactMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label plasma cell tumor LEXMATCH -MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-all LEXMATCH -MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lymphoblastic leukemia LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis LEXMATCH -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma LEXMATCH -MONDO:0005005 clear cell renal carcinoma skos:exactMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell renal carcinoma LEXMATCH -MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch Orphanet:457246 Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell sarcoma of kidney LEXMATCH -MONDO:0005021 dilated cardiomyopathy skos:exactMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:exactMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal adenocarcinoma LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:exactMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the esophagus LEXMATCH -MONDO:0005028 esophageal adenocarcinoma skos:exactMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym esophageal adenocarcinoma LEXMATCH -MONDO:0005029 essential thrombocythemia skos:exactMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential thrombocythemia LEXMATCH -MONDO:0005033 ganglioneuroma skos:exactMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioneuroma LEXMATCH -MONDO:0005035 ganglioneuroblastoma skos:exactMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioneuroblastoma LEXMATCH -MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor LEXMATCH -MONDO:0005055 Kaposi's sarcoma skos:exactMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposi sarcoma LEXMATCH -MONDO:0005058 leiomyosarcoma skos:exactMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma LEXMATCH -MONDO:0005060 liposarcoma skos:exactMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liposarcoma LEXMATCH -MONDO:0005062 lymphoma skos:exactMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoma LEXMATCH -MONDO:0005072 neuroblastoma skos:exactMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroblastoma LEXMATCH -MONDO:0005077 pertussis skos:exactMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pertussis LEXMATCH -MONDO:0005077 pertussis skos:exactMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label whooping cough LEXMATCH -MONDO:0005077 pertussis skos:exactMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pertussis LEXMATCH -MONDO:0005081 preeclampsia skos:exactMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preeclampsia LEXMATCH -MONDO:0005086 renal cell carcinoma skos:exactMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma LEXMATCH -MONDO:0005091 severe acute respiratory syndrome skos:exactMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe acute respiratory syndrome LEXMATCH -MONDO:0005100 systemic sclerosis skos:exactMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis LEXMATCH -MONDO:0005103 well-differentiated liposarcoma skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated liposarcoma LEXMATCH -MONDO:0005116 Whipple disease skos:exactMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whipple disease LEXMATCH -MONDO:0005124 leprosy skos:exactMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leprosy LEXMATCH -MONDO:0005136 malaria skos:exactMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malaria LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:exactMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical adenocarcinoma LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:exactMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the cervix uteri LEXMATCH -MONDO:0005153 cervical adenocarcinoma skos:exactMatch Orphanet:213772 Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenocarcinoma LEXMATCH -MONDO:0005164 fibrosarcoma skos:exactMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosarcoma LEXMATCH -MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch Orphanet:520820 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia LEXMATCH -MONDO:0005185 chronic childhood arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid arthritis LEXMATCH -MONDO:0005197 thymus neoplasm skos:exactMatch Orphanet:100100 Thymic tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thymic tumor LEXMATCH -MONDO:0005198 vulvar intraepithelial neoplasia skos:exactMatch Orphanet:137583 Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar intraepithelial neoplasia LEXMATCH -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive cardiomyopathy LEXMATCH -MONDO:0005210 uterine corpus sarcoma skos:exactMatch Orphanet:213620 Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sarcoma of the corpus uteri LEXMATCH -MONDO:0005212 rhabdomyosarcoma skos:exactMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyosarcoma LEXMATCH -MONDO:0005215 vulvar carcinoma skos:exactMatch Orphanet:494418 Vulvar carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar carcinoma LEXMATCH -MONDO:0005220 collecting duct carcinoma skos:exactMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label collecting duct carcinoma LEXMATCH -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with minimal differentiation LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch Orphanet:98833 Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloblastic leukemia without maturation LEXMATCH -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:exactMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia LEXMATCH -MONDO:0005308 ciliopathy skos:exactMatch Orphanet:363250 Ciliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliopathy LEXMATCH -MONDO:0005312 pouchitis skos:exactMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pouchitis LEXMATCH -MONDO:0005313 necrotizing enterocolitis skos:exactMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing enterocolitis LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endoepithelial corneal dystrophy LEXMATCH -MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym late hereditary endothelial dystrophy LEXMATCH -MONDO:0005361 eosinophilic esophagitis skos:exactMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eoe LEXMATCH -MONDO:0005380 osteonecrosis skos:exactMatch Orphanet:399158 Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis LEXMATCH -MONDO:0005388 primary biliary cholangitis skos:exactMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis LEXMATCH -MONDO:0005440 embryonal carcinoma skos:exactMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal carcinoma LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:exactMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sleeping sickness LEXMATCH -MONDO:0005459 human African trypanosomiasis skos:exactMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label african trypanosomiasis LEXMATCH -MONDO:0005486 tooth agenesis skos:exactMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym selective tooth agenesis LEXMATCH -MONDO:0005486 tooth agenesis skos:exactMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oligodontia LEXMATCH -MONDO:0005498 botulism skos:exactMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism LEXMATCH -MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii LEXMATCH -MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type ii LEXMATCH -MONDO:0005502 dengue disease skos:exactMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue virus infection LEXMATCH -MONDO:0005502 dengue disease skos:exactMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever LEXMATCH -MONDO:0005504 diphtheria skos:exactMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria LEXMATCH -MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:exactMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysembryoplastic neuroepithelial tumor LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bessel-hagen disease LEXMATCH -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple cartilaginous exostoses LEXMATCH -MONDO:0005512 malignant peritoneal mesothelioma skos:exactMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant peritoneal mesothelioma LEXMATCH -MONDO:0005514 nanophthalmia skos:exactMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nanophthalmia LEXMATCH -MONDO:0005526 tetanus skos:exactMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus LEXMATCH -MONDO:0005543 autoimmune hepatitis type 1 skos:exactMatch Orphanet:563576 Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis type 1 LEXMATCH -MONDO:0005563 nut midline carcinoma skos:exactMatch Orphanet:443167 NUT midline carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nut midline carcinoma LEXMATCH -MONDO:0005570 hematologic disorder skos:exactMatch Orphanet:97992 Rare hematologic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare hematologic disease LEXMATCH -MONDO:0005571 polycythemia skos:exactMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycythemia LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal epidermoid carcinoma LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal squamous cell carcinoma LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the esophagus LEXMATCH -MONDO:0005580 esophageal squamous cell carcinoma skos:exactMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym esophageal squamous cell carcinoma LEXMATCH -MONDO:0005595 laryngeal squamous cell carcinoma skos:exactMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the larynx LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian mucinous adenocarcinoma LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucinous adenocarcinoma of ovary LEXMATCH -MONDO:0005601 ovarian mucinous adenocarcinoma skos:exactMatch Orphanet:398961 Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian mucinous adenocarcinoma LEXMATCH -MONDO:0005615 plasmacytoma skos:exactMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmacytoma LEXMATCH -MONDO:0005619 typhoid fever skos:exactMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym typhoid fever LEXMATCH -MONDO:0005619 typhoid fever skos:exactMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym typhoidal salmonellosis LEXMATCH -MONDO:0005619 typhoid fever skos:exactMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label typhoid LEXMATCH -MONDO:0005619 typhoid fever skos:exactMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym typhoid fever LEXMATCH -MONDO:0005631 actinomycosis skos:exactMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis LEXMATCH -MONDO:0005645 ancylostomiasis skos:exactMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ancylostomiasis LEXMATCH -MONDO:0005657 aspergillosis skos:exactMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis LEXMATCH -MONDO:0005661 babesiosis skos:exactMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis LEXMATCH -MONDO:0005662 balantidiasis skos:exactMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis LEXMATCH -MONDO:0005668 bird fancier's lung skos:exactMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bird fancier lung LEXMATCH -MONDO:0005668 bird fancier's lung skos:exactMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigeon-breeder lung disease LEXMATCH -MONDO:0005674 bone giant cell tumor skos:exactMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gct of bone LEXMATCH -MONDO:0005674 bone giant cell tumor skos:exactMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell tumor of bone LEXMATCH -MONDO:0005680 Brill-Zinsser disease skos:exactMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brill-zinsser disease LEXMATCH -MONDO:0005683 brucellosis skos:exactMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis LEXMATCH -MONDO:0005692 cat-scratch disease skos:exactMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease LEXMATCH -MONDO:0005696 central nervous system tuberculosis skos:exactMatch Orphanet:641396 Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system tuberculosis LEXMATCH -MONDO:0005706 coccidioidomycosis skos:exactMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis LEXMATCH -MONDO:0005708 Colorado tick fever skos:exactMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever LEXMATCH -MONDO:0005710 composite lymphoma skos:exactMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label composite lymphoma LEXMATCH -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia LEXMATCH -MONDO:0005714 congenital syphilis skos:exactMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis LEXMATCH -MONDO:0005715 congenital toxoplasmosis skos:exactMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis LEXMATCH -MONDO:0005724 cryptococcosis skos:exactMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis LEXMATCH -MONDO:0005725 cyclosporiasis skos:exactMatch Orphanet:210 Cyclosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyclosporiasis LEXMATCH -MONDO:0005736 eastern equine encephalitis skos:exactMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis LEXMATCH -MONDO:0005737 Ebola hemorrhagic fever skos:exactMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebola hemorrhagic fever LEXMATCH -MONDO:0005744 yolk sac tumor skos:exactMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yolk sac tumor LEXMATCH -MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular dendritic cell sarcoma LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:exactMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial nerve palsy due to herpes zoster infection LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:exactMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial nerve palsy due to vzv LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:exactMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial nerve paralysis due to vzv LEXMATCH -MONDO:0005769 geniculate herpes zoster skos:exactMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ramsay hunt syndrome LEXMATCH -MONDO:0005773 Gerstmann syndrome skos:exactMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gerstmann syndrome LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:exactMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatitis d virus LEXMATCH -MONDO:0005789 hepatitis D virus infection skos:exactMatch Orphanet:402823 Hepatitis delta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hepatitis delta LEXMATCH -MONDO:0005802 hymenolepiasis skos:exactMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis LEXMATCH -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic nen LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0005815 pancreatic neuroendocrine neoplasm skos:exactMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0005817 Kluver-Bucy syndrome skos:exactMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label klüver-bucy syndrome LEXMATCH -MONDO:0005820 Lassa fever skos:exactMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever LEXMATCH -MONDO:0005823 legionellosis skos:exactMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionnaires disease LEXMATCH -MONDO:0005823 legionellosis skos:exactMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legionellosis LEXMATCH -MONDO:0005825 leptospirosis skos:exactMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis LEXMATCH -MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes LEXMATCH -MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes LEXMATCH -MONDO:0005828 listeriosis skos:exactMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis LEXMATCH -MONDO:0005835 Lynch syndrome skos:exactMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lynch syndrome LEXMATCH -MONDO:0005838 mansonelliasis skos:exactMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis LEXMATCH -MONDO:0005846 microsporidiosis skos:exactMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microsporidiosis LEXMATCH -MONDO:0005851 Miller Fisher syndrome skos:exactMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miller fisher syndrome LEXMATCH -MONDO:0005854 mixed connective tissue disease skos:exactMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed connective tissue disease LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic nec LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic neuroendocrine carcinoma LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated nen of pancreas LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated neuroendocrine neoplasm of pancreas LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated pancreatic nen LEXMATCH -MONDO:0005893 pancreatic endocrine carcinoma skos:exactMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated pancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0005894 paracoccidioidomycosis skos:exactMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis LEXMATCH -MONDO:0005919 placental insufficiency skos:exactMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placental insufficiency LEXMATCH -MONDO:0005933 pulmonary blastoma skos:exactMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary blastoma LEXMATCH -MONDO:0005942 Reye syndrome skos:exactMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome LEXMATCH -MONDO:0005968 sporotrichosis skos:exactMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis LEXMATCH -MONDO:0005969 st. Louis encephalitis skos:exactMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label st. louis encephalitis LEXMATCH -MONDO:0005974 strongyloidiasis skos:exactMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis LEXMATCH -MONDO:0005979 thoracic outlet syndrome skos:exactMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic outlet syndrome LEXMATCH -MONDO:0005988 toxocariasis skos:exactMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis LEXMATCH -MONDO:0005991 trench fever skos:exactMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever LEXMATCH -MONDO:0006002 urogenital tuberculosis skos:exactMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urogenital tuberculosis LEXMATCH -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:exactMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome LEXMATCH -MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch Orphanet:497188 Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse intrinsic pontine glioma LEXMATCH -MONDO:0006043 metaplastic breast carcinoma skos:exactMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metaplastic carcinoma of the breast LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian clear cell adenocarcinoma LEXMATCH -MONDO:0006045 ovarian clear cell adenocarcinoma skos:exactMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian clear cell adenocarcinoma LEXMATCH -MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wilms tumor LEXMATCH -MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wilms tumor LEXMATCH -MONDO:0006079 ameloblastic carcinoma skos:exactMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ameloblastic carcinoma LEXMATCH -MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lipoma LEXMATCH -MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical lipomatous tumor LEXMATCH -MONDO:0006131 cerebellar liponeurocytoma skos:exactMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar liponeurocytoma LEXMATCH -MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid basal carcinoma LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical adenoid cystic carcinoma LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenoid cystic carcinoma of the cervix uteri LEXMATCH -MONDO:0006133 cervical adenoid cystic carcinoma skos:exactMatch Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid cystic carcinoma LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical squamous cell carcinoma LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the cervix uteri LEXMATCH -MONDO:0006143 cervical squamous cell carcinoma skos:exactMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical squamous cell carcinoma LEXMATCH -MONDO:0006183 disseminated peritoneal leiomyomatosis skos:exactMatch Orphanet:71274 Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated peritoneal leiomyomatosis LEXMATCH -MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma LEXMATCH -MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial squamous cell carcinoma LEXMATCH -MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma LEXMATCH -MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial undifferentiated carcinoma LEXMATCH -MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:exactMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrolamellar hepatocellular carcinoma LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric squamous cell carcinoma LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the stomach LEXMATCH -MONDO:0006230 gastric squamous cell carcinoma skos:exactMatch Orphanet:418959 Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gastric squamous cell carcinoma LEXMATCH -MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma LEXMATCH -MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma LEXMATCH -MONDO:0006248 hydatidiform mole skos:exactMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole LEXMATCH -MONDO:0006260 kidney medullary carcinoma skos:exactMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal medullary carcinoma LEXMATCH -MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olfactory neuroblastoma LEXMATCH -MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olfactory neuroblastoma LEXMATCH -MONDO:0006335 ovarian endometrioid adenocarcinoma skos:exactMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endometrioid carcinoma of ovary LEXMATCH -MONDO:0006339 ovarian microcystic stromal tumor skos:exactMatch Orphanet:569248 Microcystic stromal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcystic stromal tumor LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic acinar cell carcinoma LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acinar cell carcinoma of pancreas LEXMATCH -MONDO:0006346 pancreatic acinar cell carcinoma skos:exactMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic acinar cell carcinoma LEXMATCH -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation skos:exactMatch Orphanet:595133 Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pecoma LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic mesothelioma LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular peritoneal inclusion cyst LEXMATCH -MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peritoneal cystic mesothelioma LEXMATCH -MONDO:0006372 pituicytoma skos:exactMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma LEXMATCH -MONDO:0006373 pituitary gland adenoma skos:exactMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pituitary adenoma LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:exactMatch Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous diffuse large b-cell lymphoma, leg type LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym destombes-rosaï-dorfman disease LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosaï-dorfman-destombes disease LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-dysgerminomatous germ cell tumor of testis LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular non seminomatous germ cell tumor LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular non-dysgerminomatous germ cell tumor LEXMATCH -MONDO:0006447 testicular non-seminomatous germ cell tumor skos:exactMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-seminomatous germ cell tumor of testis LEXMATCH -MONDO:0006451 thymic carcinoma skos:exactMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic carcinoma LEXMATCH -MONDO:0006456 thymoma skos:exactMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma LEXMATCH -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:exactMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anaplastic thyroid carcinoma LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ogct of pancreas LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoclastic giant cell tumor of pancreas LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic osteoclastic giant cell tumor LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic undifferentiated carcinoma with osteoclast-like giant cells LEXMATCH -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells skos:exactMatch Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated carcinoma of pancreas with osteoclast-like giant cells LEXMATCH -MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine carcinosarcoma LEXMATCH -MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uterine carcinosarcoma LEXMATCH -MONDO:0006486 uveal melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveal melanoma LEXMATCH -MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dermolytic epidermolysis bullosa LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica LEXMATCH -MONDO:0006543 epidermolysis bullosa dystrophica skos:exactMatch Orphanet:303 Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermolysis bullosa dystrophica LEXMATCH -MONDO:0006558 pemphigoid gestationis skos:exactMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid gestationis LEXMATCH -MONDO:0006574 lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym madelung disease LEXMATCH -MONDO:0006583 necrobiosis lipoidica skos:exactMatch Orphanet:542592 Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrobiosis lipoidica LEXMATCH -MONDO:0006602 porokeratosis skos:exactMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis LEXMATCH -MONDO:0006606 scleredema adultorum skos:exactMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buschke scleredema LEXMATCH -MONDO:0006606 scleredema adultorum skos:exactMatch Orphanet:352763 Scleredema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scleredema LEXMATCH -MONDO:0006614 subcorneal pustular dermatosis skos:exactMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcorneal pustular dermatosis LEXMATCH -MONDO:0006618 vibratory urticaria skos:exactMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria LEXMATCH -MONDO:0006639 adrenal cortex carcinoma skos:exactMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenocortical carcinoma LEXMATCH -MONDO:0006651 anterior uveitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior uveitis LEXMATCH -MONDO:0006663 perinatal asphyxia skos:exactMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hie LEXMATCH -MONDO:0006663 perinatal asphyxia skos:exactMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxic-ischemic encephalopathy LEXMATCH -MONDO:0006663 perinatal asphyxia skos:exactMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perinatal hypoxia LEXMATCH -MONDO:0006664 atrial septal defect skos:exactMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrial septal defect LEXMATCH -MONDO:0006664 atrial septal defect skos:exactMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interauricular communication LEXMATCH -MONDO:0006664 atrial septal defect skos:exactMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrial septal defect LEXMATCH -MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis LEXMATCH -MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis LEXMATCH -MONDO:0006682 brachial plexus neuritis skos:exactMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brachial plexus neuritis LEXMATCH -MONDO:0006687 burning mouth syndrome skos:exactMatch Orphanet:353253 Burning mouth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burning mouth syndrome LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic inflammatory demyelinating polyradiculoneuropathy LEXMATCH -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic inflammatory demyelinating polyradiculoneuropathy LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stromal sarcoma of the corpus uteri LEXMATCH -MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endometrial stromal sarcoma LEXMATCH -MONDO:0006806 intermediate uveitis skos:exactMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate uveitis LEXMATCH -MONDO:0006825 kuru skos:exactMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kuru LEXMATCH -MONDO:0006851 meconium aspiration syndrome skos:exactMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium aspiration syndrome LEXMATCH -MONDO:0006861 myeloid sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma LEXMATCH -MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal myasthenia gravis LEXMATCH -MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal myasthenia gravis LEXMATCH -MONDO:0006908 pituitary apoplexy skos:exactMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary apoplexy LEXMATCH -MONDO:0006913 pneumococcal meningitis skos:exactMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis LEXMATCH -MONDO:0006918 posterior uveitis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis LEXMATCH -MONDO:0006941 rat-bite fever skos:exactMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rat-bite fever LEXMATCH -MONDO:0006952 retinopathy of prematurity skos:exactMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity LEXMATCH -MONDO:0006956 Rickettsiosis skos:exactMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rickettsiae disease LEXMATCH -MONDO:0006956 Rickettsiosis skos:exactMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rickettsial disease LEXMATCH -MONDO:0006976 somatostatinoma skos:exactMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatostatinoma LEXMATCH -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576370 Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant creutzfeldt-jakob disease LEXMATCH -MONDO:0007023 Yersinia infectious disease skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal syndrome LEXMATCH -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome LEXMATCH -MONDO:0007031 familial abdominal aortic aneurysm skos:exactMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial abdominal aortic aneurysm LEXMATCH -MONDO:0007032 prune belly syndrome skos:exactMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome LEXMATCH -MONDO:0007034 Adams-Oliver syndrome skos:exactMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adams-oliver syndrome LEXMATCH -MONDO:0007037 Achondroplasia skos:exactMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia LEXMATCH -MONDO:0007041 Apert syndrome skos:exactMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apert syndrome LEXMATCH -MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label saethre-chotzen syndrome LEXMATCH -MONDO:0007043 Pfeiffer syndrome skos:exactMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome LEXMATCH -MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, catania type LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ake LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym punctate palmoplantar hyperkeratosis type 3 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym punctate palmoplantar keratoderma type 3 LEXMATCH -MONDO:0007047 punctate palmoplantar keratoderma type III skos:exactMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrokeratoelastoidosis of costa LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:exactMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym akv of hopf LEXMATCH -MONDO:0007048 acrokeratosis verruciformis skos:exactMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrokeratosis verruciformis of hopf LEXMATCH -MONDO:0007055 Acromicric dysplasia skos:exactMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromicric dysplasia LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acroosteolysis with osteoporosis and changes in skull and mandible LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrodentoosteodysplasia LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cheney syndrome LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hajdu-cheney syndrome LEXMATCH -MONDO:0007057 Acroosteolysis dominant type skos:exactMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acroosteolysis dominant type LEXMATCH -MONDO:0007058 Acropectorovertebral dysplasia skos:exactMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acropectorovertebral dysplasia LEXMATCH -MONDO:0007059 acrorenal syndrome skos:exactMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrorenal syndrome LEXMATCH -MONDO:0007062 adactylia, unilateral skos:exactMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adactyly of hand, unilateral LEXMATCH -MONDO:0007062 adactylia, unilateral skos:exactMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digits 2-5 hypodactyly, unilateral LEXMATCH -MONDO:0007062 adactylia, unilateral skos:exactMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digits 2-5 oligodactyly, unilateral LEXMATCH -MONDO:0007062 adactylia, unilateral skos:exactMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital absence/hypoplasia of fingers excluding thumb, unilateral LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada deficiency LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to adenosine deaminase deficiency LEXMATCH -MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenylosuccinate lyase deficiency LEXMATCH -MONDO:0007070 adiposis dolorosa skos:exactMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adiposis dolorosa LEXMATCH -MONDO:0007072 ADULT syndrome skos:exactMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult syndrome LEXMATCH -MONDO:0007073 Hypoglossia-hypodactyly syndrome skos:exactMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoglossia-hypodactyly syndrome LEXMATCH -MONDO:0007077 Tietz syndrome skos:exactMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tietz syndrome LEXMATCH -MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1a LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dexamethasone-sensitive hypertension LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hyperaldosteronism type 1 LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fh-i LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocorticoid-remediable aldosteronism LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocorticoid-sensitive hypertension LEXMATCH -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucocorticoid-remediable aldosteronism LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant palmoplantar keratoderma and congenital alopecia LEXMATCH -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:exactMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia-epilepsy-pyorrhea-intellectual disability syndrome LEXMATCH -MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant alport syndrome LEXMATCH -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ameloonychohypohidrotic syndrome LEXMATCH -MONDO:0007095 ameloonychohypohidrotic syndrome skos:exactMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ameloonychohypohidrotic syndrome LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:exactMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid polyneuropathy type iv LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:exactMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloidosis, finnish type LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:exactMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gelsolin amyloidosis LEXMATCH -MONDO:0007097 Finnish type amyloidosis skos:exactMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloidosis, finnish type LEXMATCH -MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acys amyloidosis LEXMATCH -MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis, ostertag type LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid nephropathy LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial renal amyloidosis LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy LEXMATCH -MONDO:0007099 familial visceral amyloidosis skos:exactMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal amyloidosis LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attrv30m-related amyloidosis LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid polyneuropathy type i LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid polyneuropathy, portuguese-swedish-japanese type LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transthyretin amyloid neuropathy LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transthyretin amyloid polyneuropathy LEXMATCH -MONDO:0007100 familial amyloid neuropathy skos:exactMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ttr amyloid neuropathy LEXMATCH -MONDO:0007101 familial primary localized cutaneous amyloidosis skos:exactMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial primary localized cutaneous amyloidosis LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disease LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disease LEXMATCH -MONDO:0007108 anal canal carcinoma skos:exactMatch Orphanet:424013 Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma of the anal canal LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda iii LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 3 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type iii LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 3 LEXMATCH -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 3 LEXMATCH -MONDO:0007112 interventricular septum aneurysm skos:exactMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interventricular septum aneurysm LEXMATCH -MONDO:0007113 Angelman syndrome skos:exactMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome LEXMATCH -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia skos:exactMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angel-shaped phalango-epiphyseal dysplasia LEXMATCH -MONDO:0007119 isolated aniridia skos:exactMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated aniridia LEXMATCH -MONDO:0007120 aniridia-absent patella syndrome skos:exactMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-absent patella syndrome LEXMATCH -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:exactMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloblepharon filiforme adnatum-cleft palate syndrome LEXMATCH -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate syndrome LEXMATCH -MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital total pulmonary venous return anomaly LEXMATCH -MONDO:0007131 anonychia with flexural pigmentation skos:exactMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia with flexural pigmentation LEXMATCH -MONDO:0007134 Cooks syndrome skos:exactMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cooks syndrome LEXMATCH -MONDO:0007137 isolated congenital anosmia skos:exactMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital anosmia LEXMATCH -MONDO:0007142 Townes-Brocks syndrome skos:exactMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label townes-brocks syndrome LEXMATCH -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:exactMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch anomaly-facial dysmorphism-intellectual disability syndrome LEXMATCH -MONDO:0007145 aplasia cutis congenita skos:exactMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis congenita LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intracranial arteriovenous malformation LEXMATCH -MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral arteriovenous malformation LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 5 LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iib LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis with ophthalmoplegia LEXMATCH -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculomelic amyoplasia LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-like hand anomaly-sensorineural deafness syndrome LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:exactMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym episodic ataxia type 2 LEXMATCH -MONDO:0007163 episodic ataxia type 2 skos:exactMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic ataxia type 2 LEXMATCH -MONDO:0007165 spastic ataxia 7 skos:exactMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant spastic ataxia type 7 LEXMATCH -MONDO:0007167 atelosteogenesis type I skos:exactMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type i LEXMATCH -MONDO:0007168 atelosteogenesis type III skos:exactMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type iii LEXMATCH -MONDO:0007173 atrial septal defect 7 skos:exactMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrial septal defect-atrioventricular conduction defects syndrome LEXMATCH -MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lown-ganong-levine syndrome LEXMATCH -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label helicoid peripapillary chorioretinal degeneration LEXMATCH -MONDO:0007177 auriculoosteodysplasia skos:exactMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auriculoosteodysplasia LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym azorean disease of the nervous system LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym machado disease LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym machado-joseph disease LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nigro-spino-dentatal degeneration with nuclear ophthalmoplegia LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 3 LEXMATCH -MONDO:0007182 Machado-Joseph disease skos:exactMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym machado-joseph disease LEXMATCH -MONDO:0007185 Banki syndrome skos:exactMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label banki syndrome LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell nevus syndrome LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gorlin-goltz syndrome LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nevoid basal cell carcinoma syndrome LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gorlin syndrome LEXMATCH -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nevoid basal cell carcinoma syndrome LEXMATCH -MONDO:0007188 primary basilar invagination skos:exactMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary basilar invagination LEXMATCH -MONDO:0007191 Behcet disease skos:exactMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label behçet disease LEXMATCH -MONDO:0007194 familial bicuspid aortic valve skos:exactMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial bicuspid aortic valve LEXMATCH -MONDO:0007198 Ascher syndrome skos:exactMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascher syndrome LEXMATCH -MONDO:0007200 blepharonasofacial malformation syndrome skos:exactMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharonasofacial malformation syndrome LEXMATCH -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:exactMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoptosis-myopia-ectopia lentis syndrome LEXMATCH -MONDO:0007203 blue rubber bleb nevus skos:exactMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blue rubber bleb nevus LEXMATCH -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphyseal medullary stenosis-bone malignancy syndrome LEXMATCH -MONDO:0007207 Böök syndrome skos:exactMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label böök syndrome LEXMATCH -MONDO:0007208 Boomerang dysplasia skos:exactMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label boomerang dysplasia LEXMATCH -MONDO:0007209 Weismann-Netter syndrome skos:exactMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weismann-netter syndrome LEXMATCH -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-arterial hypertension syndrome LEXMATCH -MONDO:0007212 brachydactyly-long thumb syndrome skos:exactMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-long thumb syndrome LEXMATCH -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-preaxial hallux varus syndrome LEXMATCH -MONDO:0007215 brachydactyly type A1 skos:exactMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a1 LEXMATCH -MONDO:0007216 brachydactyly type A2 skos:exactMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a2 LEXMATCH -MONDO:0007218 brachydactyly type A4 skos:exactMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a4 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osebold-remondini syndrome LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brachydactyly type a6 LEXMATCH -MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osebold-remondini syndrome LEXMATCH -MONDO:0007220 brachydactyly type B1 skos:exactMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b1 LEXMATCH -MONDO:0007221 brachydactyly type C skos:exactMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type c LEXMATCH -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular aplasia-ectrodactyly syndrome LEXMATCH -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:exactMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-nystagmus-cerebellar ataxia syndrome LEXMATCH -MONDO:0007227 Sillence syndrome skos:exactMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sillence syndrome LEXMATCH -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:exactMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachymorphism-onychodysplasia-dysphalangism syndrome LEXMATCH -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:exactMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachytelephalangy-dysmorphism-kallmann syndrome LEXMATCH -MONDO:0007232 autosomal dominant brachyolmia skos:exactMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant brachyolmia LEXMATCH -MONDO:0007233 second branchial cleft anomaly skos:exactMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label second branchial cleft anomaly LEXMATCH -MONDO:0007237 familial juvenile hypertrophy of the breast skos:exactMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial juvenile hypertrophy of the breast LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bullous congenital ichthyosiform erythroderma LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bullous congenital ichthyosiform erythroderma of brock LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bullous ichthyosis LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolytic hyperkeratosis LEXMATCH -MONDO:0007239 epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis hystrix brocq type LEXMATCH -MONDO:0007243 Burkitt lymphoma skos:exactMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma LEXMATCH -MONDO:0007244 Caffey disease skos:exactMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caffey disease LEXMATCH -MONDO:0007245 cafe au lait spots, multiple skos:exactMatch Orphanet:2678 Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis type 6 LEXMATCH -MONDO:0007248 hereditary painful callosities skos:exactMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary painful callosities LEXMATCH -MONDO:0007249 camptobrachydactyly skos:exactMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptobrachydactyly LEXMATCH -MONDO:0007250 camptodactyly of fingers skos:exactMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly of fingers LEXMATCH -MONDO:0007251 campomelic dysplasia skos:exactMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label campomelic dysplasia LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gordon syndrome LEXMATCH -MONDO:0007256 hepatocellular carcinoma skos:exactMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatocellular carcinoma LEXMATCH -MONDO:0007259 craniofaciofrontodigital syndrome skos:exactMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofaciofrontodigital syndrome LEXMATCH -MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dilated cardiomyopathy with conduction defect due to lmna mutation LEXMATCH -MONDO:0007271 familial cutaneous collagenoma skos:exactMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cutaneous collagenoma LEXMATCH -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:exactMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypercarotenemia and vitamin a deficiency LEXMATCH -MONDO:0007276 cat-eye syndrome skos:exactMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-eye syndrome LEXMATCH -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:exactMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-aberrant oral frenula-growth delay syndrome LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad-i LEXMATCH -MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type i LEXMATCH -MONDO:0007294 central core myopathy skos:exactMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central core disease LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bects LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial epilepsy of childhood with rolandic spikes LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign rolandic epilepsy LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bre LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym centrotemporal epilepsy LEXMATCH -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rolandic epilepsy LEXMATCH -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 LEXMATCH -MONDO:0007297 ADan amyloidosis skos:exactMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adan amyloidosis LEXMATCH -MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 29 LEXMATCH -MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrocostomandibular syndrome LEXMATCH -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1b LEXMATCH -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1a LEXMATCH -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1e LEXMATCH -MONDO:0007313 cheilitis glandularis skos:exactMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cheilitis glandularis LEXMATCH -MONDO:0007315 cherubism skos:exactMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cherubism LEXMATCH -MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arnold-chiari malformation type 1 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chiari malformation type 1 LEXMATCH -MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chiari malformation type i LEXMATCH -MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arnold-chiari malformation type i LEXMATCH -MONDO:0007316 Chiari malformation type I skos:exactMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chiari malformation type i LEXMATCH -MONDO:0007318 Alagille syndrome skos:exactMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate crystal deposition disease LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial articular chondrocalcinosis LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cc LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cppd LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary articular chondrocalcinosis LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary calcium pyrophosphate deposition LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cc LEXMATCH -MONDO:0007319 chondrocalcinosis 2 skos:exactMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial calcium pyrophosphate deposition LEXMATCH -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata, tibial-metacarpal type LEXMATCH -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:exactMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital pseudarthrosis of the clavicle LEXMATCH -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome LEXMATCH -MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-lateral synechia syndrome LEXMATCH -MONDO:0007338 cleft soft palate skos:exactMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleft soft palate LEXMATCH -MONDO:0007338 cleft soft palate skos:exactMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleft velum palatinum LEXMATCH -MONDO:0007338 cleft soft palate skos:exactMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cleft velum LEXMATCH -MONDO:0007338 cleft soft palate skos:exactMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft soft palate LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bcd syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharocheilodontic syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clefting-ectropion-conical teeth syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectropion inferior-cleft lip and/or palate syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lagophthalmia-cleft lip and palate syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blepharo-cheilo-odontic syndrome LEXMATCH -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blepharocheilodontic syndrome LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleidocranial dysostosis LEXMATCH -MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cleidocranial dysplasia LEXMATCH -MONDO:0007341 cleidorhizomelic syndrome skos:exactMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleidorhizomelic syndrome LEXMATCH -MONDO:0007343 isolated congenital digital clubbing skos:exactMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital digital clubbing LEXMATCH -MONDO:0007345 aorta coarctation skos:exactMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorta coarctation LEXMATCH -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:exactMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cochleosaccular degeneration-cataract syndrome LEXMATCH -MONDO:0007351 coloboma of macula skos:exactMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of macula LEXMATCH -MONDO:0007352 renal coloboma syndrome skos:exactMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal coloboma syndrome LEXMATCH -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:exactMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of macula-brachydactyly type b syndrome LEXMATCH -MONDO:0007354 coloboma of optic nerve skos:exactMatch Orphanet:98947 Coloboma of optic disc semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coloboma of optic papilla LEXMATCH -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveal coloboma-cleft lip and palate-intellectual disability LEXMATCH -MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital contractural arachnodactyly LEXMATCH -MONDO:0007368 familial benign copper deficiency skos:exactMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial benign copper deficiency LEXMATCH -MONDO:0007369 hereditary coproporphyria skos:exactMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary coproporphyria LEXMATCH -MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schnyder corneal dystrophy LEXMATCH -MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial basement membrane dystrophy LEXMATCH -MONDO:0007376 fleck corneal dystrophy skos:exactMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fleck corneal dystrophy LEXMATCH -MONDO:0007377 granular corneal dystrophy type I skos:exactMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granular corneal dystrophy type i LEXMATCH -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy LEXMATCH -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 LEXMATCH -MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meesmann corneal dystrophy LEXMATCH -MONDO:0007380 lattice corneal dystrophy type I skos:exactMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lattice corneal dystrophy type i LEXMATCH -MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial recurrent erosion dystrophy LEXMATCH -MONDO:0007382 Ramos-Arroyo syndrome skos:exactMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ramos-arroyo syndrome LEXMATCH -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:exactMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stern-lubinsky-durrie syndrome LEXMATCH -MONDO:0007384 congenital trigeminal anesthesia skos:exactMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital trigeminal anesthesia LEXMATCH -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:exactMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic spontaneous coronary artery dissection LEXMATCH -MONDO:0007388 congenitally short costocoracoid ligament skos:exactMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally short costocoracoid ligament LEXMATCH -MONDO:0007392 coxoauricular syndrome skos:exactMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coxoauricular syndrome LEXMATCH -MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofacial-deafness-hand syndrome LEXMATCH -MONDO:0007396 dysostosis, Stanescu type skos:exactMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis, stanescu type LEXMATCH -MONDO:0007398 craniorhiny skos:exactMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorhiny LEXMATCH -MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jackson-weiss syndrome LEXMATCH -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:exactMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-dandy-walker malformation-hydrocephalus syndrome LEXMATCH -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited creutzfeldt-jakob disease LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri du chat syndrome LEXMATCH -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 5p LEXMATCH -MONDO:0007405 Crouzon syndrome skos:exactMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crouzon syndrome LEXMATCH -MONDO:0007407 Cryoglobulinemic vasculitis skos:exactMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryoglobulinemic vasculitis LEXMATCH -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:exactMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptomicrotia-brachydactyly-excess fingertip arch syndrome LEXMATCH -MONDO:0007410 isolated cryptophthalmia skos:exactMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cryptophthalmia LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beare-stevenson cutis gyrata syndrome LEXMATCH -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beare-stevenson cutis gyrata syndrome LEXMATCH -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:exactMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyprus facial-neuromusculoskeletal syndrome LEXMATCH -MONDO:0007414 Gorham-Stout disease skos:exactMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gorham-stout disease LEXMATCH -MONDO:0007417 Darier disease skos:exactMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label darier disease LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ddod syndrome LEXMATCH -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant deafness-onychodystrophy syndrome LEXMATCH -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:exactMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-ear malformation-facial palsy syndrome LEXMATCH -MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoderma hereditarium mutilans LEXMATCH -MONDO:0007428 deafness-craniofacial syndrome skos:exactMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-craniofacial syndrome LEXMATCH -MONDO:0007434 primary failure of tooth eruption skos:exactMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary failure of tooth eruption LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentatorubropallidoluysian atrophy LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naito-oyanagi disease LEXMATCH -MONDO:0007436 dentin dysplasia type I skos:exactMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia type i LEXMATCH -MONDO:0007437 dentin dysplasia type II skos:exactMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia type ii LEXMATCH -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:exactMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia-sclerotic bones syndrome LEXMATCH -MONDO:0007441 dentinogenesis imperfecta type 2 skos:exactMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta type 2 LEXMATCH -MONDO:0007442 dentinogenesis imperfecta type 3 skos:exactMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta type 3 LEXMATCH -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:exactMatch Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital unilateral hypoplasia of depressor anguli oris LEXMATCH -MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatopathia pigmentosa reticularis LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cdi LEXMATCH -MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary neurogenic diabetes insipidus LEXMATCH -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:exactMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-valvular heart disease-characteristic facies syndrome LEXMATCH -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calvarial doughnut lesions-bone fragility syndrome LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dominant drusen LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dominant radial drusen LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym doyne honeycomb retinal dystrophy LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malattia leventinese LEXMATCH -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym doyne honeycomb retinal dystrophy LEXMATCH -MONDO:0007473 Duane retraction syndrome skos:exactMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane retraction syndrome LEXMATCH -MONDO:0007477 3-M syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-m syndrome LEXMATCH -MONDO:0007477 3-M syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome LEXMATCH -MONDO:0007477 3-M syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 3-m syndrome LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant kenny-caffey syndrome LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym léri-weill syndrome LEXMATCH -MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label léri-weill dyschondrosteosis LEXMATCH -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:exactMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschondrosteosis-nephritis syndrome LEXMATCH -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis symmetrica hereditaria LEXMATCH -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:exactMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary benign intraepithelial dyskeratosis LEXMATCH -MONDO:0007489 dysplasia epiphysealis hemimelica skos:exactMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplasia epiphysealis hemimelica LEXMATCH -MONDO:0007490 carpotarsal osteochondromatosis skos:exactMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpotarsal osteochondromatosis LEXMATCH -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset generalized limb-onset dystonia LEXMATCH -MONDO:0007493 torsion dystonia 4 skos:exactMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary whispering dysphonia LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant segawa syndrome LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5a LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gtpch1-deficient dopa-responsive dystonia LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gtpch1-deficient drd LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary progressive dystonia with marked diurnal fluctuation LEXMATCH -MONDO:0007495 dystonia 5 skos:exactMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hpd with marked diurnal fluctuation LEXMATCH -MONDO:0007496 dystonia 12 skos:exactMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 12 LEXMATCH -MONDO:0007496 dystonia 12 skos:exactMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 12 LEXMATCH -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:exactMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thickened earlobes-conductive deafness syndrome LEXMATCH -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of fingerprints-congenital milia syndrome LEXMATCH -MONDO:0007510 Clouston syndrome skos:exactMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clouston syndrome LEXMATCH -MONDO:0007510 Clouston syndrome skos:exactMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hidrotic ectodermal dysplasia LEXMATCH -MONDO:0007510 Clouston syndrome skos:exactMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clouston syndrome LEXMATCH -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:exactMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia, trichoodontoonychial type LEXMATCH -MONDO:0007519 Edinburgh malformation syndrome skos:exactMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label edinburgh malformation syndrome LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds iii LEXMATCH -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 3 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds vii LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 7 LEXMATCH -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds viii LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 8 LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type LEXMATCH -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:exactMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type LEXMATCH -MONDO:0007529 elastosis perforans serpiginosa skos:exactMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa LEXMATCH -MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome LEXMATCH -MONDO:0007536 congenital lobar emphysema skos:exactMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lobar emphysema LEXMATCH -MONDO:0007537 lateral meningocele syndrome skos:exactMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lateral meningocele syndrome LEXMATCH -MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 1 LEXMATCH -MONDO:0007542 Camurati-Engelmann disease skos:exactMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camurati-engelmann disease LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient bullous dermolysis of the newborn LEXMATCH -MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transient bullous dermolysis of the newborn LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-loc LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex of palms and soles LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex, weber-cockayne type LEXMATCH -MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label localized epidermolysis bullosa simplex LEXMATCH -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deb-pt LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex, koebner type LEXMATCH -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex, köbner type LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-mp LEXMATCH -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex with mottled pigmentation LEXMATCH -MONDO:0007558 benign occipital epilepsy skos:exactMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign occipital epilepsy LEXMATCH -MONDO:0007560 reading seizures skos:exactMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reading seizures LEXMATCH -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 1 LEXMATCH -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, beighton type LEXMATCH -MONDO:0007564 pilomatrixoma skos:exactMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilomatrixoma LEXMATCH -MONDO:0007565 familial cylindromatosis skos:exactMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cylindromatosis LEXMATCH -MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple self-healing squamous epithelioma LEXMATCH -MONDO:0007570 erythema palmare hereditarium skos:exactMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema palmare hereditarium LEXMATCH -MONDO:0007571 primary erythermalgia skos:exactMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary erythromelalgia LEXMATCH -MONDO:0007571 primary erythermalgia skos:exactMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary erythermalgia LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital erythrocytosis due to erythropoietin receptor mutation LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital polycythemia due to erythropoietin receptor mutation LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial erythrocytosis LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital erythrocytosis LEXMATCH -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial and congenital polycythemia LEXMATCH -MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 34 LEXMATCH -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:exactMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exostoses-anetodermia-brachydactyly type e syndrome LEXMATCH -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:exactMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external auditory canal atresia-vertical talus-hypertelorism syndrome LEXMATCH -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:exactMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrasystoles-short stature-hyperpigmentation-microcephaly syndrome LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:exactMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemifacial hypertrophy LEXMATCH -MONDO:0007590 hemifacial hypertrophy skos:exactMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemifacial hypertrophy LEXMATCH -MONDO:0007592 familial recurrent peripheral facial palsy skos:exactMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial recurrent peripheral facial palsy LEXMATCH -MONDO:0007603 Felty syndrome skos:exactMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome LEXMATCH -MONDO:0007604 femoral-facial syndrome skos:exactMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femoral-facial syndrome LEXMATCH -MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrodysplasia ossificans progressiva LEXMATCH -MONDO:0007607 Birt-Hogg-Dube syndrome skos:exactMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrofolliculomas with trichodiscomas and acrochordons LEXMATCH -MONDO:0007608 desmoid tumor skos:exactMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoid tumor LEXMATCH -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:exactMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-hypertrichosis syndrome LEXMATCH -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:exactMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-progressive deafness syndrome LEXMATCH -MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fibrosis of extraocular muscles LEXMATCH -MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laurin-sandrow syndrome LEXMATCH -MONDO:0007618 Eng-Strom syndrome skos:exactMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eng-strom syndrome LEXMATCH -MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital adermatoglyphia LEXMATCH -MONDO:0007620 fish eye disease skos:exactMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fed LEXMATCH -MONDO:0007620 fish eye disease skos:exactMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial lcat deficiency LEXMATCH -MONDO:0007621 Floating-Harbor syndrome skos:exactMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome LEXMATCH -MONDO:0007624 Flynn-Aird syndrome skos:exactMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flynn-aird syndrome LEXMATCH -MONDO:0007626 familial congenital palsy of trochlear nerve skos:exactMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital palsy of trochlear nerve LEXMATCH -MONDO:0007627 focal facial dermal dysplasia type I skos:exactMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type i LEXMATCH -MONDO:0007630 North Carolina macular dystrophy skos:exactMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label north carolina macular dystrophy LEXMATCH -MONDO:0007635 Frasier syndrome skos:exactMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frasier syndrome LEXMATCH -MONDO:0007636 frontorhiny skos:exactMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontorhiny LEXMATCH -MONDO:0007639 fundus albipunctatus skos:exactMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fundus albipunctatus LEXMATCH -MONDO:0007642 isolated agenesis of gallbladder skos:exactMatch Orphanet:440987 Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated agenesis of gallbladder LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aran-nm LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcmt2-nm LEXMATCH -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial diffuse cancer of stomach LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial diffuse gastric cancer LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary diffuse cancer of stomach LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary diffuse gastric adenocarcinoma LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary diffuse gastric adenocarcinoma LEXMATCH -MONDO:0007650 MALT lymphoma skos:exactMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malt lymphoma LEXMATCH -MONDO:0007651 gastrocutaneous syndrome skos:exactMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrocutaneous syndrome LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant hypertrophic gastritis LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoproteinemic hypertrophic gastropathy LEXMATCH -MONDO:0007652 gastric mucosal hypertrophy skos:exactMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ménétrier disease LEXMATCH -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gerstmann-straussler-scheinker syndrome LEXMATCH -MONDO:0007660 familial ossifying fibroma skos:exactMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial ossifying fibroma LEXMATCH -MONDO:0007666 glaucoma-sleep apnea syndrome skos:exactMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma-sleep apnea syndrome LEXMATCH -MONDO:0007667 subependymoma skos:exactMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymoma LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hnf1b-mody LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcad syndrome LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cysts and diabetes syndrome LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal dysfunction-early-onset diabetes syndrome LEXMATCH -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal cysts and diabetes syndrome LEXMATCH -MONDO:0007671 fibronectin glomerulopathy skos:exactMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibronectin glomerulopathy LEXMATCH -MONDO:0007672 glomuvenous malformation skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glomuvenous malformation LEXMATCH -MONDO:0007679 GMS syndrome skos:exactMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gms syndrome LEXMATCH -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:exactMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multinodular goiter-cystic kidney-polydactyly syndrome LEXMATCH -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:exactMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial mng LEXMATCH -MONDO:0007683 Grant syndrome skos:exactMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grant syndrome LEXMATCH -MONDO:0007686 gray platelet syndrome skos:exactMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gray platelet syndrome LEXMATCH -MONDO:0007688 Myhre syndrome skos:exactMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myhre syndrome LEXMATCH -MONDO:0007690 aromatase excess syndrome skos:exactMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatase excess syndrome LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hairy elbows syndrome LEXMATCH -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:exactMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macdermot-patton-williams syndrome LEXMATCH -MONDO:0007696 Emery-Nelson syndrome skos:exactMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emery-nelson syndrome LEXMATCH -MONDO:0007698 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hand-foot-genital syndrome LEXMATCH -MONDO:0007700 hawkinsinuria skos:exactMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hawkinsinuria LEXMATCH -MONDO:0007702 heart-hand syndrome type 3 skos:exactMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome type 3 LEXMATCH -MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kasabach-merritt syndrome LEXMATCH -MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemifacial atrophy LEXMATCH -MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parry-romberg syndrome LEXMATCH -MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive facial hemiatrophy LEXMATCH -MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romberg syndrome LEXMATCH -MONDO:0007710 facial hemiatrophy skos:exactMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive hemifacial atrophy LEXMATCH -MONDO:0007711 Bencze syndrome skos:exactMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bencze syndrome LEXMATCH -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:exactMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoauriculovertebral spectrum with radial defects LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:exactMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial hemispasm LEXMATCH -MONDO:0007713 clonic hemifacial spasm skos:exactMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym focal myoclonus of face LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha thalassemia-intellectual disability syndrome, deletion type LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr syndrome linked to chromosome 16 LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr syndrome, deletion type LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr-16 syndrome LEXMATCH -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 LEXMATCH -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:exactMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary progressive mucinous histiocytosis LEXMATCH -MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hip dysplasia, beukes type LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hibernian fever LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tnf receptor 1-associated periodic syndrome LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traps syndrome LEXMATCH -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tumor necrosis factor receptor 1 associated periodic syndrome LEXMATCH -MONDO:0007732 Holt-Oram syndrome skos:exactMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holt-oram syndrome LEXMATCH -MONDO:0007735 congenital Horner syndrome skos:exactMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital horner syndrome LEXMATCH -MONDO:0007737 humeroradial synostosis skos:exactMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym humero-radial fusion LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia with congenital joint dislocations, chst3 type LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sdcd, chst3 type LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type LEXMATCH -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chst3-related skeletal dysplasia LEXMATCH -MONDO:0007739 Huntington disease skos:exactMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease LEXMATCH -MONDO:0007740 Wagner disease skos:exactMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wagner disease LEXMATCH -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH -MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hyperchlorhidrosis LEXMATCH -MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkeratosis lenticularis perstans LEXMATCH -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkeratosis-hyperpigmentation syndrome LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym worth syndrome LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosteal hyperostosis, worth type LEXMATCH -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant osteosclerosis, worth type LEXMATCH -MONDO:0007765 hyperostosis cranialis interna skos:exactMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperostosis cranialis interna LEXMATCH -MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:exactMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morgagni-stewart-morel syndrome LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hpt-jt LEXMATCH -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:exactMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperparathyroidism-jaw tumor syndrome LEXMATCH -MONDO:0007772 pseudohypoaldosteronism type 2A skos:exactMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2a LEXMATCH -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ambras syndrome LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease type 3 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type iii LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn 3 LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn iii LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dejerine-sottas syndrome LEXMATCH -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disease type 3 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhh type 1 LEXMATCH -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypocalciuric hypercalcemia type 1 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhh type 2 LEXMATCH -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypocalciuric hypercalcemia type 2 LEXMATCH -MONDO:0007793 hypochondroplasia skos:exactMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondroplasia LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barakat syndrome LEXMATCH -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hdr syndrome LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de grouchy syndrome LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy 18p LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 18p LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 18p LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 18 LEXMATCH -MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 18 LEXMATCH -MONDO:0007803 multiple system atrophy skos:exactMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy LEXMATCH -MONDO:0007804 Pallister-Hall syndrome skos:exactMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pallister-hall syndrome LEXMATCH -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:exactMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis hystrix of curth-macklin LEXMATCH -MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial epidermolytic ichthyosis LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad-hies LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant hies LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant hyperimmunoglobulin e syndrome LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buckley syndrome LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperimmunoglobulin e syndrome type 1 LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stat3 deficiency LEXMATCH -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant hyper-ige syndrome LEXMATCH -MONDO:0007820 fused mandibular incisors skos:exactMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fused mandibular incisors LEXMATCH -MONDO:0007827 inclusion body myositis skos:exactMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis LEXMATCH -MONDO:0007836 IVIC syndrome skos:exactMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ivic syndrome LEXMATCH -MONDO:0007837 Johnson neuroectodermal syndrome skos:exactMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label johnson neuroectodermal syndrome LEXMATCH -MONDO:0007838 Jacobsen syndrome skos:exactMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jacobsen syndrome LEXMATCH -MONDO:0007839 Aase-Smith syndrome skos:exactMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aase-smith syndrome LEXMATCH -MONDO:0007841 coxopodopatellar syndrome skos:exactMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coxopodopatellar syndrome LEXMATCH -MONDO:0007842 joint laxity, familial skos:exactMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial joint instability syndrome LEXMATCH -MONDO:0007842 joint laxity, familial skos:exactMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial joint laxity LEXMATCH -MONDO:0007842 joint laxity, familial skos:exactMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint instability syndrome LEXMATCH -MONDO:0007846 KBG syndrome skos:exactMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kbg syndrome LEXMATCH -MONDO:0007848 autosomal dominant keratitis skos:exactMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant keratitis LEXMATCH +MONDO:0004672 fasciolopsiasis skos:exactMatch Orphanet:658909 Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis LEXMATCH +MONDO:0005342 IgA glomerulonephritis skos:exactMatch Orphanet:34145 Immunoglobulin A nephropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iga nephropathy LEXMATCH +MONDO:0005705 clonorchiasis skos:exactMatch Orphanet:658917 Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis LEXMATCH +MONDO:0005895 paragonimiasis skos:exactMatch Orphanet:658913 Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis LEXMATCH MONDO:0007849 keratitis fugax hereditaria skos:exactMatch Orphanet:647815 Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratoendotheliitis fugax hereditaria LEXMATCH -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-deafness syndrome LEXMATCH -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:exactMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome LEXMATCH -MONDO:0007854 keratolytic winter erythema skos:exactMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratolytic winter erythema LEXMATCH -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-esophageal carcinoma syndrome LEXMATCH -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:exactMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmaris et plantaris-clinodactyly syndrome LEXMATCH -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar and gingival keratoderma LEXMATCH -MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 3 LEXMATCH -MONDO:0007863 Kleine-Levin syndrome skos:exactMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleine-levin syndrome LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioosteohypertrophic syndrome LEXMATCH -MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label klippel-trénaunay syndrome LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bart-pumphrey syndrome LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome LEXMATCH -MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bart-pumphrey syndrome LEXMATCH -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:exactMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital nasolacrimal duct obstruction LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculoradiodental syndrome LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ladd syndrome LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lard syndrome LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym levy-hollister syndrome LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lacrimoauriculodentodigital syndrome LEXMATCH -MONDO:0007872 LADD syndrome skos:exactMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ladd syndrome LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym langer-giedion syndrome LEXMATCH -MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichorhinophalangeal syndrome type 2 LEXMATCH -MONDO:0007875 Larsen syndrome skos:exactMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen syndrome LEXMATCH -MONDO:0007876 laryngeal abductor paralysis skos:exactMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis LEXMATCH -MONDO:0007878 congenital laryngomalacia skos:exactMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia LEXMATCH -MONDO:0007879 larynx atresia skos:exactMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larynx atresia LEXMATCH -MONDO:0007880 congenital laryngeal web skos:exactMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal web LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aseptic necrosis of the capital femoral epiphysis LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondrosis of the capital femoral epiphysis LEXMATCH -MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perthes disease LEXMATCH -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:exactMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary leiomyomatosis and renal cell cancer LEXMATCH -MONDO:0007891 familial generalized lentiginosis skos:exactMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial generalized lentiginosis LEXMATCH -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lenz-majewski hyperostotic dwarfism LEXMATCH -MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome with multiple lentigines LEXMATCH -MONDO:0007894 Leri pleonosteosis skos:exactMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leri pleonosteosis LEXMATCH -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label platyspondylic dysplasia, torrance type LEXMATCH -MONDO:0007896 acute monocytic leukemia skos:exactMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m5 LEXMATCH -MONDO:0007904 median nodule of the upper lip skos:exactMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median nodule of the upper lip LEXMATCH -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial lipodystrophy, dunnigan type LEXMATCH -MONDO:0007908 multiple symmetric lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple symmetric lipomatosis LEXMATCH -MONDO:0007909 familial multiple lipomatosis skos:exactMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple lipomatosis LEXMATCH -MONDO:0007915 systemic lupus erythematosus skos:exactMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus LEXMATCH -MONDO:0007916 primary intestinal lymphangiectasia skos:exactMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intestinal lymphangiectasia LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label milroy disease LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:exactMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type ii LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:exactMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meige lymphedema LEXMATCH -MONDO:0007920 lymphatic malformation 5 skos:exactMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meige disease LEXMATCH -MONDO:0007921 yellow nail syndrome skos:exactMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-distichiasis syndrome LEXMATCH -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bannayan-riley-ruvalcaba syndrome LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 5q- syndrome LEXMATCH -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality LEXMATCH -MONDO:0007927 congenital macroglossia skos:exactMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital macroglossia LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym best disease LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym best macular dystrophy LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early-onset vitelliform macular dystrophy LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile-onset vitelliform macular dystrophy LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic vitelline macular degeneration LEXMATCH -MONDO:0007931 vitelliform macular dystrophy 2 skos:exactMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitelliform macular dystrophy type 2 LEXMATCH -MONDO:0007934 benign concentric annular macular dystrophy skos:exactMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign concentric annular macular dystrophy LEXMATCH -MONDO:0007935 cystoid macular edema skos:exactMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant cystoid macular edema LEXMATCH -MONDO:0007935 cystoid macular edema skos:exactMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial macular edema LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated autosomal dominant hypomagnesemia LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated renal magnesium wasting LEXMATCH -MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal hypomagnesemia type 2 LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mandibulofacial dysostosis with preaxial limb anomalies LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nager acrofacial dysostosis LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym preaxial acrodysostosis LEXMATCH -MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nager acrofacial dysostosis LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jaw-winking syndrome LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mandibulo-palpebral synkinesis-ptosis syndrome LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marcus-gunn phenomenon LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marcus-gunn syndrome LEXMATCH -MONDO:0007946 jaw-winking syndrome skos:exactMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jaw-winking syndrome LEXMATCH -MONDO:0007947 Marfan syndrome skos:exactMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfan syndrome type 1 LEXMATCH -MONDO:0007947 Marfan syndrome skos:exactMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome LEXMATCH -MONDO:0007949 Marshall syndrome skos:exactMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marshall syndrome LEXMATCH -MONDO:0007950 mastocytosis skos:exactMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mastocytosis LEXMATCH -MONDO:0007953 Binder syndrome skos:exactMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym binder syndrome LEXMATCH -MONDO:0007953 Binder syndrome skos:exactMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maxillonasal dysostosis LEXMATCH -MONDO:0007953 Binder syndrome skos:exactMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym binder syndrome LEXMATCH -MONDO:0007956 Pai syndrome skos:exactMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pai syndrome LEXMATCH -MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial medullary thyroid carcinoma LEXMATCH -MONDO:0007959 medulloblastoma skos:exactMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medulloblastoma LEXMATCH -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome LEXMATCH -MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma and neural system tumor syndrome LEXMATCH -MONDO:0007969 Melkersson-Rosenthal syndrome skos:exactMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melkersson-rosenthal syndrome LEXMATCH -MONDO:0007970 melorheostosis skos:exactMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melorheostosis LEXMATCH -MONDO:0007971 delayed membranous cranial ossification skos:exactMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delayed membranous cranial ossification LEXMATCH -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:exactMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia, kantaputra type LEXMATCH -MONDO:0007979 metachondromatosis skos:exactMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachondromatosis LEXMATCH -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, jansen type LEXMATCH -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome LEXMATCH -MONDO:0007986 metatropic dysplasia skos:exactMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia LEXMATCH -MONDO:0007987 Kniest dysplasia skos:exactMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kniest dysplasia LEXMATCH -MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant primary microcephaly LEXMATCH -MONDO:0007989 congenital microcoria skos:exactMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital microcoria LEXMATCH -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple benign circumferential skin creases on limbs LEXMATCH -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:exactMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-deafness-intellectual disability syndrome LEXMATCH -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:exactMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcornea-glaucoma-absent frontal sinuses syndrome LEXMATCH -MONDO:0007993 microgastria-limb reduction defect syndrome skos:exactMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microgastria-limb reduction defect syndrome LEXMATCH -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:exactMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microspherophakia-metaphyseal dysplasia syndrome LEXMATCH -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant progressive external ophthalmoplegia LEXMATCH -MONDO:0008004 familial mitral valve prolapse skos:exactMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mitral valve prolapse LEXMATCH -MONDO:0008005 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome LEXMATCH -MONDO:0008006 Mobius syndrome skos:exactMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym möbius syndrome LEXMATCH -MONDO:0008007 tooth ankylosis skos:exactMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ankylosis of teeth LEXMATCH -MONDO:0008008 MOMO syndrome skos:exactMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label momo syndrome LEXMATCH -MONDO:0008009 monilethrix skos:exactMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monilethrix LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9p deletion syndrome LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9p- syndrome LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alfi syndrome LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy 9p LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 9p LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 9p LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 9 LEXMATCH -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 9 LEXMATCH -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trismus-pseudocamptodactyly syndrome LEXMATCH -MONDO:0008017 hereditary mucoepithelial dysplasia skos:exactMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary mucoepithelial dysplasia LEXMATCH -MONDO:0008018 Muir-Torre syndrome skos:exactMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muir-torre syndrome LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym müllerian duct failure and hyperandrogenism LEXMATCH -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wnt4 deficiency LEXMATCH -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:exactMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome LEXMATCH -MONDO:0008029 Bethlem myopathy skos:exactMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy LEXMATCH -MONDO:0008038 ataxia-pancytopenia syndrome skos:exactMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome LEXMATCH -MONDO:0008039 tropical spastic paraparesis skos:exactMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical spastic paraparesis LEXMATCH -MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient myeloproliferative syndrome LEXMATCH -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:exactMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonus-cerebellar ataxia-deafness syndrome LEXMATCH -MONDO:0008044 myoclonic dystonia 11 skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia LEXMATCH -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy-progressive myoclonic epilepsy syndrome LEXMATCH -MONDO:0008046 autosomal dominant myoglobinuria skos:exactMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant myoglobinuria LEXMATCH -MONDO:0008047 episodic ataxia type 1 skos:exactMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 1 LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant centronuclear myopathy LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 1 LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gowers disease LEXMATCH -MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laing early-onset distal myopathy LEXMATCH -MONDO:0008051 tubular aggregate myopathy skos:exactMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubular aggregate myopathy LEXMATCH -MONDO:0008054 juvenile dermatomyositis skos:exactMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy type 1 LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disease LEXMATCH -MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy type 1 LEXMATCH -MONDO:0008058 cylindrical spirals myopathy skos:exactMatch Orphanet:171886 Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cylindrical spirals myopathy LEXMATCH -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label naegeli-franceschetti-jadassohn syndrome LEXMATCH -MONDO:0008061 nail-patella syndrome skos:exactMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail-patella syndrome LEXMATCH -MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:exactMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym actin myopathy LEXMATCH -MONDO:0008070 nemaline myopathy 3 skos:exactMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital myopathy with excess of thin filaments LEXMATCH -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:exactMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant progressive nephropathy with hypertension LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary cystic kidney disease type 2 LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym umod-related adtkd LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uromodulin-associated kidney disease LEXMATCH -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:exactMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy type 1 LEXMATCH -MONDO:0008075 schwannomatosis skos:exactMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurilemmomatosis LEXMATCH -MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2b LEXMATCH -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln4b disease LEXMATCH -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neuropathy with liability to pressure palsies LEXMATCH -MONDO:0008092 hereditary neutrophilia skos:exactMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neutrophilia LEXMATCH -MONDO:0008094 familial multiple nevi flammei skos:exactMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple nevi flammei LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nevus sebaceus of jadassohn LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nevus sebaceus syndrome LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym organoid nevus syndrome LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schimmelpenning syndrome LEXMATCH -MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solomon syndrome LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nievergelt syndrome LEXMATCH -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:exactMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mesomelic dwarfism, nievergelt type LEXMATCH -MONDO:0008101 familial supernumerary nipples skos:exactMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial supernumerary nipples LEXMATCH -MONDO:0008108 oculocerebrocutaneous syndrome skos:exactMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebrocutaneous syndrome LEXMATCH -MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cicatricial pemphigoid LEXMATCH -MONDO:0008111 oculodentodigital dysplasia skos:exactMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculodentodigital dysplasia LEXMATCH -MONDO:0008113 Schilbach-Rott syndrome skos:exactMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schilbach-rott syndrome LEXMATCH -MONDO:0008115 Feingold syndrome type 1 skos:exactMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome type 1 LEXMATCH -MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy LEXMATCH -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:exactMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontomatosis-aortae esophagus stenosis syndrome LEXMATCH -MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 1 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant omodysplasia LEXMATCH -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:exactMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmomandibulomelic dysplasia LEXMATCH -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:exactMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmoplegia-intellectual disability-lingua scrotalis syndrome LEXMATCH -MONDO:0008133 optic atrophy 3 skos:exactMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant optic atrophy type 3 LEXMATCH -MONDO:0008133 optic atrophy 3 skos:exactMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opa3, autosomal dominant LEXMATCH -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy, classic form LEXMATCH MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch Orphanet:637061 Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:exactMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym figuera syndrome LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:exactMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:exactMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome with fibular aplasia LEXMATCH -MONDO:0008137 orofaciodigital syndrome X skos:exactMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 10 LEXMATCH -MONDO:0008138 syndromic orbital border hypoplasia skos:exactMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic orbital border hypoplasia LEXMATCH -MONDO:0008139 OSLAM syndrome skos:exactMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oslam syndrome LEXMATCH -MONDO:0008142 Thiemann disease, familial form skos:exactMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiemann disease, familial form LEXMATCH -MONDO:0008145 Ollier disease skos:exactMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ollier disease LEXMATCH -MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 1 LEXMATCH -MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 2 LEXMATCH -MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 4 LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:exactMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoglophonic dwarfism LEXMATCH -MONDO:0008150 osteoglophonic dwarfism skos:exactMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteoglophonic dwarfism LEXMATCH -MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnathodiaphyseal dysplasia LEXMATCH -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric carpo-tarsal osteolysis with or without nephropathy LEXMATCH -MONDO:0008153 progressive osseous heteroplasia skos:exactMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive osseous heteroplasia LEXMATCH -MONDO:0008155 osteomesopyknosis skos:exactMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomesopyknosis LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopetrosis autosomal dominant type 2 LEXMATCH -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albers-schönberg osteopetrosis LEXMATCH -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:exactMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryocystitis-osteopoikilosis syndrome LEXMATCH -MONDO:0008161 otodental syndrome skos:exactMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otodental syndrome LEXMATCH -MONDO:0008163 otofaciocervical syndrome skos:exactMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otofaciocervical syndrome LEXMATCH -MONDO:0008165 southeast Asian ovalocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label southeast asian ovalocytosis LEXMATCH -MONDO:0008168 ovarian fibroma skos:exactMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian fibroma LEXMATCH -MONDO:0008170 ovarian cancer skos:exactMatch Orphanet:213500 Ovarian cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cancer LEXMATCH -MONDO:0008175 pacman dysplasia skos:exactMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pacman dysplasia LEXMATCH -MONDO:0008175 pacman dysplasia skos:exactMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pacman dysplasia LEXMATCH -MONDO:0008177 extramammary Paget disease skos:exactMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramammary paget disease LEXMATCH -MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal extreme pain disorder LEXMATCH -MONDO:0008180 congenital velopharyngeal incompetence skos:exactMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital velopharyngeal incompetence LEXMATCH -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:exactMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopalpebral lipoma-coloboma syndrome LEXMATCH -MONDO:0008183 annular pancreas skos:exactMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas LEXMATCH -MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary chronic pancreatitis LEXMATCH -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramyotonia congenita of von eulenburg LEXMATCH -MONDO:0008196 parastremmatic dwarfism skos:exactMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parastremmatic dwarfism LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parietal foramina with cleidocranial dysplasia LEXMATCH -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:exactMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym parietal foramina with cleidocranial dysplasia LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:exactMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant late-onset parkinson disease LEXMATCH -MONDO:0008199 late-onset Parkinson disease skos:exactMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary late-onset parkinson disease LEXMATCH -MONDO:0008201 Perry syndrome skos:exactMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perry syndrome LEXMATCH -MONDO:0008205 patella aplasia/hypoplasia skos:exactMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patella aplasia/hypoplasia LEXMATCH -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:exactMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign paroxysmal tonic upgaze of childhood with ataxia LEXMATCH -MONDO:0008209 Char syndrome skos:exactMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label char syndrome LEXMATCH -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:exactMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoleprechaunism syndrome, patterson type LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset autosomal dominant demyelinating leukodystrophy LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset autosomal dominant leukodystrophy LEXMATCH -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult-onset autosomal dominant demyelinating leukodystrophy LEXMATCH -MONDO:0008217 pelvis-shoulder dysplasia skos:exactMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvis-shoulder dysplasia LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:exactMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign chronic familial pemphigus of hailey-hailey LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:exactMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hailey-hailey disease LEXMATCH -MONDO:0008218 Hailey-Hailey disease skos:exactMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hailey-hailey disease LEXMATCH -MONDO:0008219 pemphigus vulgaris skos:exactMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris LEXMATCH -MONDO:0008221 prolidase deficiency skos:exactMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prolidase deficiency LEXMATCH -MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label andersen-tawil syndrome LEXMATCH -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypokalemic periodic paralysis LEXMATCH -MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkalemic periodic paralysis LEXMATCH -MONDO:0008227 peripheral dysostosis skos:exactMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral dysostosis LEXMATCH -MONDO:0008228 pernicious anemia skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency LEXMATCH -MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2a LEXMATCH -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:exactMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome LEXMATCH -MONDO:0008244 piebaldism skos:exactMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piebaldism LEXMATCH -MONDO:0008245 piebald trait-neurologic defects syndrome skos:exactMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piebald trait-neurologic defects syndrome LEXMATCH -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigmented paravenous retinochoroidal atrophy LEXMATCH -MONDO:0008247 Robin sequence-oligodactyly syndrome skos:exactMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robin sequence-oligodactyly syndrome LEXMATCH -MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ii LEXMATCH -MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial spontaneous pneumothorax LEXMATCH -MONDO:0008260 Kindler syndrome skos:exactMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kindler syndrome LEXMATCH -MONDO:0008260 Kindler syndrome skos:exactMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poikiloderma of kindler LEXMATCH -MONDO:0008260 Kindler syndrome skos:exactMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kindler syndrome LEXMATCH -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:exactMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sclerosing poikiloderma, weary type LEXMATCH -MONDO:0008262 Poland syndrome skos:exactMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poland syndrome LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 5 LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome, thurston type LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polydactyly postaxial with median cleft of upper lip LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thurston syndrome LEXMATCH -MONDO:0008267 orofaciodigital syndrome V skos:exactMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 5 LEXMATCH -MONDO:0008268 polydactyly-myopia syndrome skos:exactMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly-myopia syndrome LEXMATCH -MONDO:0008269 polydactyly of a biphalangeal thumb skos:exactMatch Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym preaxial polydactyly type 1 LEXMATCH -MONDO:0008270 polydactyly of a triphalangeal thumb skos:exactMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly of a triphalangeal thumb LEXMATCH -MONDO:0008271 polydactyly of an index finger skos:exactMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly of an index finger LEXMATCH -MONDO:0008272 polysyndactyly 4 skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym preaxial polydactyly type 4 LEXMATCH -MONDO:0008273 actinic prurigo skos:exactMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic prurigo LEXMATCH -MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia LEXMATCH -MONDO:0008275 familial expansile osteolysis skos:exactMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial expansile osteolysis LEXMATCH -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized juvenile polyposis/juvenile polyposis coli LEXMATCH -MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peutz-jeghers syndrome LEXMATCH -MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cronkhite-canada syndrome LEXMATCH -MONDO:0008286 crossed polysyndactyly skos:exactMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crossed polysyndactyly LEXMATCH -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label greig cephalopolysyndactyly syndrome LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym col4a1-related brain small vessel disease with hemorrhage LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym col4a1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome LEXMATCH -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label col4a1-related familial vascular leukoencephalopathy LEXMATCH -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:exactMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis plantaris palmaris et disseminata LEXMATCH -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma type 2 LEXMATCH -MONDO:0008294 acute intermittent porphyria skos:exactMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute intermittent porphyria LEXMATCH -MONDO:0008295 sporadic porphyria cutanea tarda skos:exactMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic porphyria cutanea tarda LEXMATCH -MONDO:0008296 familial porphyria cutanea tarda skos:exactMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial porphyria cutanea tarda LEXMATCH -MONDO:0008297 variegate porphyria skos:exactMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protoporphyrinogen oxidase deficiency LEXMATCH -MONDO:0008297 variegate porphyria skos:exactMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variegate porphyria LEXMATCH -MONDO:0008297 variegate porphyria skos:exactMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym variegate porphyria LEXMATCH -MONDO:0008298 postaxial tetramelic oligodactyly skos:exactMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial tetramelic oligodactyly LEXMATCH -MONDO:0008300 Prader-Willi syndrome skos:exactMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome LEXMATCH -MONDO:0008301 Guttmacher syndrome skos:exactMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttmacher syndrome LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:exactMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial gonadotropin-independent male-limited sexual precocity LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:exactMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male-limited precocious puberty LEXMATCH -MONDO:0008303 familial male-limited precocious puberty skos:exactMatch Orphanet:3000 Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testotoxicosis LEXMATCH -MONDO:0008305 Currarino triad skos:exactMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym currarino triad LEXMATCH -MONDO:0008305 Currarino triad skos:exactMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label currarino syndrome LEXMATCH -MONDO:0008305 Currarino triad skos:exactMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym currarino triad LEXMATCH -MONDO:0008306 ABri amyloidosis skos:exactMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abri amyloidosis LEXMATCH -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hutchinson-gilford progeria syndrome LEXMATCH -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:exactMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria-short stature-pigmented nevi syndrome LEXMATCH -MONDO:0008312 autosomal dominant prognathism skos:exactMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant prognathism LEXMATCH -MONDO:0008318 Proteus syndrome skos:exactMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus syndrome LEXMATCH -MONDO:0008322 pseudoachondroplasia skos:exactMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoachondroplasia LEXMATCH -MONDO:0008323 Liddle syndrome skos:exactMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liddle syndrome LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet type-von willebrand disease LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-von willebrand disease type 2b LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pt-vwd LEXMATCH -MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudo-von willebrand disease LEXMATCH -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:exactMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-craniofacial anomalies-genital hypoplasia syndrome LEXMATCH -MONDO:0008337 familial pterygium of the conjunctiva skos:exactMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pterygium of the conjunctiva LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 8 LEXMATCH -MONDO:0008339 antecubital pterygium syndrome skos:exactMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antecubital pterygium syndrome LEXMATCH -MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ptosis LEXMATCH -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:exactMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-strabismus-ectopic pupils syndrome LEXMATCH -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary atresia with ventricular septal defect LEXMATCH -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary hemosiderosis LEXMATCH -MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:exactMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary nodular lymphoid hyperplasia LEXMATCH -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:exactMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pruritic urticarial papules and plaques of pregnancy LEXMATCH -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:exactMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome LEXMATCH -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:exactMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial ray hypoplasia-choanal atresia syndrome LEXMATCH -MONDO:0008359 radio-renal syndrome skos:exactMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-renal syndrome LEXMATCH -MONDO:0008365 recombinant 8 syndrome skos:exactMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recombinant 8 syndrome LEXMATCH -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:exactMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal renal tubular acidosis LEXMATCH -MONDO:0008369 proximal renal tubular acidosis skos:exactMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis LEXMATCH -MONDO:0008371 Dowling-Degos disease skos:exactMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dowling-degos disease LEXMATCH -MONDO:0008373 retinal arterial tortuosity skos:exactMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal arterial tortuosity LEXMATCH -MONDO:0008380 retinoblastoma skos:exactMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma LEXMATCH -MONDO:0008387 ring dermoid of cornea skos:exactMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring dermoid of cornea LEXMATCH -MONDO:0008388 ringed hair disease skos:exactMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ringed hair disease LEXMATCH -MONDO:0008389 autosomal dominant Robinow syndrome skos:exactMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant robinow syndrome LEXMATCH -MONDO:0008390 Rombo syndrome skos:exactMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rombo syndrome LEXMATCH -MONDO:0008392 Roussy-Levy syndrome skos:exactMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary areflexic dystasia, roussy-lévy type LEXMATCH -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:exactMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to crebbp mutations LEXMATCH -MONDO:0008394 Silver-Russell syndrome skos:exactMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome LEXMATCH -MONDO:0008395 Ruvalcaba syndrome skos:exactMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ruvalcaba syndrome LEXMATCH -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:exactMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculodental syndrome, rutherfurd type LEXMATCH -MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia of lacrimal and salivary glands LEXMATCH -MONDO:0008402 cleft palate-large ears-small head syndrome skos:exactMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-large ears-small head syndrome LEXMATCH -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:exactMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp defects-postaxial polydactyly syndrome LEXMATCH -MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp-ear-nipple syndrome LEXMATCH -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurogenic scapuloperoneal syndrome, kaeser type LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurogenic scapuloperoneal amyotrophy, new england type LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scapuloperoneal neuronopathy LEXMATCH -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scapuloperoneal spinal muscular atrophy LEXMATCH -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch Orphanet:636965 Autosomal dominant myosin storage myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant myosin storage myopathy LEXMATCH -MONDO:0008411 ulnar-mammary syndrome skos:exactMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar-mammary syndrome LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar hyperkeratosis-sclerodactyly syndrome LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scleroatrophic syndrome LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerotylosis LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huriez syndrome LEXMATCH -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:exactMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym palmoplantar keratoderma-sclerodactyly syndrome LEXMATCH -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:exactMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flat face-microstomia-ear anomaly syndrome LEXMATCH -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:exactMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele syndrome, shprintzen-goldberg type LEXMATCH -MONDO:0008426 Shprintzen-Goldberg syndrome skos:exactMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shprintzen-goldberg syndrome LEXMATCH -MONDO:0008428 septooptic dysplasia skos:exactMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de morsier syndrome LEXMATCH -MONDO:0008428 septooptic dysplasia skos:exactMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym septo-optic dysplasia LEXMATCH -MONDO:0008429 Singleton-Merten dysplasia skos:exactMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label singleton-merten dysplasia LEXMATCH -MONDO:0008433 small cell lung carcinoma skos:exactMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label small cell lung cancer LEXMATCH -MONDO:0008434 Smith-Magenis syndrome skos:exactMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-magenis syndrome LEXMATCH -MONDO:0008436 Sneddon syndrome skos:exactMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sneddon syndrome LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strümpell disease LEXMATCH -MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 3 LEXMATCH -MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 4 LEXMATCH -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:exactMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-nephritis-deafness syndrome LEXMATCH -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:exactMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-neuropathy-poikiloderma syndrome LEXMATCH -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:exactMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-precocious puberty syndrome LEXMATCH -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:exactMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant distal juvenile spinal muscular atrophy type 1 LEXMATCH -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmn1 LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant adult-onset proximal sma LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant late-onset spinal muscular atrophy, finkel type LEXMATCH -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym finkel disease LEXMATCH -MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 6 LEXMATCH -MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 2 LEXMATCH -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:exactMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenogonadal fusion-limb defects-micrognathia syndrome LEXMATCH -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:exactMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patterson-stevenson-fontaine syndrome LEXMATCH -MONDO:0008466 Karsch-Neugebauer syndrome skos:exactMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karsch-neugebauer syndrome LEXMATCH -MONDO:0008467 Czeizel-Losonci syndrome skos:exactMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label czeizel-losonci syndrome LEXMATCH -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:exactMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-hypotrichosis syndrome LEXMATCH -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia congenita LEXMATCH -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:exactMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, macdermot type LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-morquio syndrome type 2 LEXMATCH -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, maroteaux type LEXMATCH -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, kozlowski type LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, schmidt type LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, 'corner fracture' type LEXMATCH -MONDO:0008482 Sprengel deformity skos:exactMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sprengel deformity LEXMATCH -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:exactMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stapes ankylosis with broad thumbs and toes LEXMATCH -MONDO:0008485 sebocystomatosis skos:exactMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sebocystomatosis LEXMATCH -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:exactMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steatocystoma multiplex-natal teeth syndrome LEXMATCH -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:exactMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-radial heart renal anomalies syndrome LEXMATCH -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stickler syndrome, non-ocular type LEXMATCH -MONDO:0008491 stiff-person syndrome skos:exactMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym moersch-woltman syndrome LEXMATCH -MONDO:0008491 stiff-person syndrome skos:exactMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stiff man syndrome LEXMATCH -MONDO:0008492 stiff skin syndrome skos:exactMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stiff skin syndrome LEXMATCH -MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overhydrated hereditary stomatocytosis LEXMATCH -MONDO:0008494 cryohydrocytosis skos:exactMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cryohydrocytosis with normal stomatin LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:exactMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha dense granule deficiency LEXMATCH -MONDO:0008495 platelet storage pool deficiency skos:exactMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined alpha-delta platelet storage pool deficiency LEXMATCH -MONDO:0008497 Stormorken syndrome skos:exactMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stormorken syndrome LEXMATCH -MONDO:0008497 Stormorken syndrome skos:exactMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombocytopathy-asplenia-miosis syndrome LEXMATCH -MONDO:0008497 Stormorken syndrome skos:exactMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stormorken syndrome LEXMATCH -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:exactMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-wormian bones-dextrocardia syndrome LEXMATCH -MONDO:0008501 Sturge-Weber syndrome skos:exactMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sturge-weber syndrome LEXMATCH -MONDO:0008503 Worster-Drought syndrome skos:exactMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label worster-drought syndrome LEXMATCH -MONDO:0008504 supravalvular aortic stenosis skos:exactMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular aortic stenosis LEXMATCH -MONDO:0008509 distal symphalangism skos:exactMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal symphalangism LEXMATCH -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:exactMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symphalangism with multiple anomalies of hands and feet LEXMATCH -MONDO:0008511 proximal symphalangism skos:exactMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal symphalangism LEXMATCH -MONDO:0008512 syndactyly type 1 skos:exactMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 1 LEXMATCH -MONDO:0008513 synpolydactyly type 1 skos:exactMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 1 LEXMATCH -MONDO:0008514 syndactyly type 3 skos:exactMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 3 LEXMATCH -MONDO:0008515 syndactyly type 4 skos:exactMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 4 LEXMATCH -MONDO:0008516 syndactyly type 5 skos:exactMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 5 LEXMATCH -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:exactMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-polydactyly-ear lobe syndrome LEXMATCH -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:exactMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-elbow wrist dysplasia syndrome LEXMATCH -MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal-carpal coalition syndrome LEXMATCH -MONDO:0008523 Blau syndrome skos:exactMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blau syndrome LEXMATCH -MONDO:0008534 generalized essential telangiectasia skos:exactMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized essential telangiectasia LEXMATCH -MONDO:0008538 temporal arteritis skos:exactMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym horton disease LEXMATCH -MONDO:0008538 temporal arteritis skos:exactMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym temporal arteritis LEXMATCH -MONDO:0008538 temporal arteritis skos:exactMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell arteritis LEXMATCH -MONDO:0008538 temporal arteritis skos:exactMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym temporal arteritis LEXMATCH -MONDO:0008540 extensor tendons of finger anomalies skos:exactMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensor tendons of finger anomalies LEXMATCH -MONDO:0008542 tetralogy of fallot skos:exactMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot LEXMATCH -MONDO:0008544 tetramelic monodactyly skos:exactMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetramelic monodactyly LEXMATCH -MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia type 1 LEXMATCH -MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia type 2 LEXMATCH -MONDO:0008551 thoracolaryngopelvic dysplasia skos:exactMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracolaryngopelvic dysplasia LEXMATCH -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:exactMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paris-trousseau thrombocytopenia LEXMATCH -MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immune thrombocytopenia LEXMATCH -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thumb deformity-alopecia-pigmentation anomaly syndrome LEXMATCH -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:exactMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thumb stiffness-brachydactyly-intellectual disability syndrome LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q11.2 deletion syndrome LEXMATCH -MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digeorge syndrome LEXMATCH -MONDO:0008565 familial thyroglossal duct cyst skos:exactMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroglossal duct cyst LEXMATCH -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym absent tibia-polydactyly syndrome LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:exactMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia-nail dysgenesis syndrome LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:exactMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tooth and nail syndrome LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:exactMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym witkop syndrome LEXMATCH -MONDO:0008582 tooth and nail syndrome skos:exactMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tooth and nail syndrome LEXMATCH -MONDO:0008585 HELLP syndrome skos:exactMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome LEXMATCH -MONDO:0008587 tracheobronchopathia osteochondroplastica skos:exactMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheobronchopathia osteochondroplastica LEXMATCH -MONDO:0008588 hereditary geniospasm skos:exactMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary geniospasm LEXMATCH -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:exactMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tremor-nystagmus-duodenal ulcer syndrome LEXMATCH -MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricho-dento-osseous syndrome LEXMATCH -MONDO:0008594 familial multiple discoid fibromas skos:exactMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple discoid fibromas LEXMATCH -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:exactMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodysplasia-xeroderma syndrome LEXMATCH -MONDO:0008599 trigeminal neuralgia skos:exactMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia LEXMATCH -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:exactMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triphalangeal thumbs-brachyectrodactyly syndrome LEXMATCH -MONDO:0008608 Down syndrome skos:exactMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome LEXMATCH -MONDO:0008610 blue color blindness skos:exactMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital tritanopia LEXMATCH -MONDO:0008610 blue color blindness skos:exactMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tritan colour blindness LEXMATCH -MONDO:0008610 blue color blindness skos:exactMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tritanopia LEXMATCH -MONDO:0008611 humerus trochlea aplasia skos:exactMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humerus trochlea aplasia LEXMATCH -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:exactMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dwarfism, reinhardt-pfeiffer type LEXMATCH -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:exactMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulna metaphyseal dysplasia syndrome LEXMATCH -MONDO:0008620 upper limb mesomelic dysplasia skos:exactMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb mesomelic dysplasia LEXMATCH -MONDO:0008621 uncombable hair syndrome skos:exactMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uncombable hair syndrome LEXMATCH -MONDO:0008622 tricho-retino-dento-digital syndrome skos:exactMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricho-retino-dento-digital syndrome LEXMATCH -MONDO:0008624 Upington disease skos:exactMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upington disease LEXMATCH -MONDO:0008633 Muckle-Wells syndrome skos:exactMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muckle-wells syndrome LEXMATCH -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:exactMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double uterus-hemivagina-renal agenesis syndrome LEXMATCH -MONDO:0008637 bifid uvula skos:exactMatch Orphanet:99771 Bifid uvula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bifid uvula LEXMATCH -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations LEXMATCH -MONDO:0008642 VACTERL/vater association skos:exactMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vacterl/vater association LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym velocardiofacial syndrome LEXMATCH -MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym velocardiofacial syndrome LEXMATCH -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:exactMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome LEXMATCH -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:exactMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome LEXMATCH -MONDO:0008652 congenital vertical talus skos:exactMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus LEXMATCH -MONDO:0008659 transcobalamin I deficiency skos:exactMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin i deficiency LEXMATCH -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypophosphatemic rickets LEXMATCH -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant vitreoretinochoroidopathy LEXMATCH -MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label snowflake vitreoretinal degeneration LEXMATCH -MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:exactMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-vocal cord paralysis syndrome LEXMATCH -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von hippel-lindau disease LEXMATCH -MONDO:0008668 von Willebrand disease 1 skos:exactMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease type 1 LEXMATCH -MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 1 LEXMATCH -MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, weyers type LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label freeman-sheldon syndrome LEXMATCH -MONDO:0008678 Williams syndrome skos:exactMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams syndrome LEXMATCH -MONDO:0008681 WAGR syndrome skos:exactMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wagr syndrome LEXMATCH -MONDO:0008682 Denys-Drash syndrome skos:exactMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label denys-drash syndrome LEXMATCH -MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolf-hirschhorn syndrome LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial woolly hair syndrome LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial wooly hair syndrome LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary woolly hair syndrome LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary wooly hair syndrome LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair LEXMATCH -MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label woolly hair LEXMATCH -MONDO:0008688 WT limb-blood syndrome skos:exactMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wt limb-blood syndrome LEXMATCH -MONDO:0008692 abetalipoproteinemia skos:exactMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetalipoproteinemia LEXMATCH -MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ablepharon macrostomia syndrome LEXMATCH -MONDO:0008694 pseudoprogeria syndrome skos:exactMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoprogeria syndrome LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chac LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chorea-acanthocytosis LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym levine-critchley syndrome LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choreoacanthocytosis LEXMATCH -MONDO:0008695 chorea-acanthocytosis skos:exactMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chorea-acanthocytosis LEXMATCH -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:exactMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome LEXMATCH -MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia-microcephaly syndrome LEXMATCH -MONDO:0008700 acheiropody skos:exactMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acheiropody LEXMATCH -MONDO:0008700 acheiropody skos:exactMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acheiropodia LEXMATCH -MONDO:0008700 acheiropody skos:exactMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acheiropody LEXMATCH -MONDO:0008701 achondrogenesis type IA skos:exactMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achondrogenesis, houston-harris type LEXMATCH -MONDO:0008702 achondrogenesis type II skos:exactMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achondrogenesis, langer-saldino type LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia, grebe type LEXMATCH -MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acromesomelic dysplasia, grebe type LEXMATCH -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:exactMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short-limb skeletal dysplasia with severe combined immunodeficiency LEXMATCH -MONDO:0008705 lysosomal acid phosphatase deficiency skos:exactMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid phosphatase deficiency LEXMATCH -MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ackerman syndrome LEXMATCH -MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ackerman syndrome LEXMATCH -MONDO:0008707 acro-renal-mandibular syndrome skos:exactMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acro-renal-mandibular syndrome LEXMATCH -MONDO:0008708 acrocallosal syndrome skos:exactMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocallosal syndrome LEXMATCH -MONDO:0008709 acrocephalopolydactyly skos:exactMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocephalopolydactyly LEXMATCH -MONDO:0008711 Goodman syndrome skos:exactMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goodman syndrome LEXMATCH -MONDO:0008712 acrocraniofacial dysostosis skos:exactMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocraniofacial dysostosis LEXMATCH -MONDO:0008713 acrodermatitis enteropathica skos:exactMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis enteropathica LEXMATCH -MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofrontofacionasal dysostosis LEXMATCH -MONDO:0008716 acrogeria skos:exactMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrogeria LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acromesomelic dwarfism LEXMATCH -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acromesomelic dysplasia, hunter-thompson type LEXMATCH -MONDO:0008718 Morvan syndrome skos:exactMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morvan syndrome LEXMATCH -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medium chain acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short chain acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label very long chain acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:exactMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adducted thumbs-arthrogryposis syndrome, christian type LEXMATCH -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lipoid adrenal hyperplasia due to star deficency LEXMATCH -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:exactMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antley-bixler syndrome with genital anomaly and disorder of steroidogenesis LEXMATCH -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency LEXMATCH -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency LEXMATCH -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency LEXMATCH -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency LEXMATCH -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:exactMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adrenal hypoplasia with absent pituitary luteinizing hormone LEXMATCH -MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial glucocorticoid deficiency LEXMATCH -MONDO:0008740 agnathia-otocephaly complex skos:exactMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label agnathia-holoprosencephaly-situs inversus syndrome LEXMATCH -MONDO:0008741 PAGOD syndrome skos:exactMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pagod syndrome LEXMATCH -MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia LEXMATCH -MONDO:0008743 Stimmler syndrome skos:exactMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stimmler syndrome LEXMATCH -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:exactMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alar cartilages hypoplasia-coloboma-telecanthus syndrome LEXMATCH -MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a LEXMATCH -MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 2 LEXMATCH -MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 3 LEXMATCH -MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 2 LEXMATCH -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:exactMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-albinism-digital anomalies syndrome LEXMATCH -MONDO:0008752 Alexander disease skos:exactMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease LEXMATCH -MONDO:0008753 alkaptonuria skos:exactMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alkaptonuria LEXMATCH -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:exactMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acd-intellectual disability syndrome LEXMATCH -MONDO:0008755 Moynahan syndrome skos:exactMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moynahan syndrome LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perniola-krajewska-carnevale syndrome LEXMATCH -MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alopecia-intellectual disability syndrome LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpers progressive sclerosing poliodystrophy LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpers syndrome LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive neuronal degeneration of childhood with liver disease LEXMATCH -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpers-huttenlocher syndrome LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:exactMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH -MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-ketothiolase deficiency LEXMATCH -MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive alport syndrome LEXMATCH -MONDO:0008763 Alstrom syndrome skos:exactMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alström syndrome LEXMATCH -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:exactMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis-hypertrichosis syndrome LEXMATCH -MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enamel-renal syndrome LEXMATCH -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-aminoadipic 2-oxoadipic aciduria LEXMATCH -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gelatinous drop-like corneal dystrophy LEXMATCH -MONDO:0008783 Tangier disease skos:exactMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tangier disease LEXMATCH -MONDO:0008787 microcytic anemia with liver iron overload skos:exactMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcytic anemia with liver iron overload LEXMATCH -MONDO:0008788 IRIDA syndrome skos:exactMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irida syndrome LEXMATCH -MONDO:0008791 anencephaly 1 skos:exactMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated anencephaly/exencephaly LEXMATCH -MONDO:0008792 familial angiolipomatosis skos:exactMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial angiolipomatosis LEXMATCH -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-cerebellar ataxia-intellectual disability syndrome LEXMATCH -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:exactMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-renal agenesis-psychomotor retardation syndrome LEXMATCH -MONDO:0008797 anodontia skos:exactMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia LEXMATCH -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia/microphthalmia-esophageal atresia syndrome LEXMATCH -MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia with limb anomalies LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome LEXMATCH -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:exactMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome LEXMATCH -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:exactMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis congenita-intestinal lymphangiectasia syndrome LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamanishi-ueba-tsuji syndrome LEXMATCH -MONDO:0008809 polyneuropathy-hand defect syndrome skos:exactMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyneuropathy-hand defect syndrome LEXMATCH -MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial apolipoprotein c-ii deficiency LEXMATCH -MONDO:0008811 XK aprosencephaly skos:exactMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym garcia-lurie syndrome LEXMATCH -MONDO:0008811 XK aprosencephaly skos:exactMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xk-aprosencephaly LEXMATCH -MONDO:0008812 AREDYLD syndrome skos:exactMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aredyld syndrome LEXMATCH -MONDO:0008813 arachnoid cyst skos:exactMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnoid cyst LEXMATCH -MONDO:0008814 hyperargininemia skos:exactMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arginase deficiency LEXMATCH -MONDO:0008814 hyperargininemia skos:exactMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperargininemia LEXMATCH -MONDO:0008814 hyperargininemia skos:exactMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label argininemia LEXMATCH -MONDO:0008814 hyperargininemia skos:exactMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperargininemia LEXMATCH -MONDO:0008815 argininosuccinic aciduria skos:exactMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argininosuccinic aciduria LEXMATCH -MONDO:0008818 arterial tortuosity syndrome skos:exactMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial tortuosity syndrome LEXMATCH -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurogenic arthrogryposis multiplex congenita LEXMATCH -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence LEXMATCH -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:exactMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita-whistling face syndrome LEXMATCH -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:exactMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-hyperkeratosis syndrome, lethal form LEXMATCH -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive pseudorheumatoid arthropathy of childhood LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthropathy-camptodactyly syndrome LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cacp syndrome LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jacobs syndrome LEXMATCH -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pericarditis-arthropathy-camptodactyly syndrome LEXMATCH -MONDO:0008829 chylous ascites skos:exactMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chylous ascites LEXMATCH -MONDO:0008830 aspartylglucosaminuria skos:exactMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspartylglucosaminuria LEXMATCH -MONDO:0008832 right atrial isomerism skos:exactMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ivemark syndrome LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-hearing loss-intellectual disability syndrome LEXMATCH -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:exactMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reardon-baraitser syndrome LEXMATCH -MONDO:0008840 ataxia telangiectasia skos:exactMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym louis-bar syndrome LEXMATCH -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:exactMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome LEXMATCH -MONDO:0008846 atransferrinemia skos:exactMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital hypotransferrinemia LEXMATCH -MONDO:0008846 atransferrinemia skos:exactMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital atransferrinemia LEXMATCH -MONDO:0008847 atrichia with papular lesions skos:exactMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrichia with papular lesions LEXMATCH -MONDO:0008849 atrophoderma vermiculata skos:exactMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophoderma vermiculata LEXMATCH -MONDO:0008850 Cooper-Jabs syndrome skos:exactMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cooper-jabs syndrome LEXMATCH -MONDO:0008853 Barber-Say syndrome skos:exactMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label barber-say syndrome LEXMATCH -MONDO:0008855 MHC class II deficiency skos:exactMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mhc class ii deficiency LEXMATCH -MONDO:0008857 Beemer-Ertbruggen syndrome skos:exactMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beemer-ertbruggen syndrome LEXMATCH -MONDO:0008863 sitosterolemia skos:exactMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sitosterolemia LEXMATCH -MONDO:0008864 Biemond syndrome type 2 skos:exactMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biemond syndrome type 2 LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bietti crystalline corneoretinal dystrophy LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bietti crystalline retinopathy LEXMATCH -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bietti crystalline corneoretinal dystrophy LEXMATCH -MONDO:0008867 biliary atresia skos:exactMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated atresia of bile ducts LEXMATCH -MONDO:0008867 biliary atresia skos:exactMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-syndromic biliary atresia LEXMATCH -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic primordial dwarfism type ii LEXMATCH -MONDO:0008874 Bangstad syndrome skos:exactMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bangstad syndrome LEXMATCH -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:exactMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome LEXMATCH -MONDO:0008876 Bloom syndrome skos:exactMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bloom syndrome LEXMATCH -MONDO:0008877 blue diaper syndrome skos:exactMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blue diaper syndrome LEXMATCH -MONDO:0008878 bone dysplasia, lethal Holmgren type skos:exactMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone dysplasia, lethal holmgren type LEXMATCH -MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bowen-conradi syndrome LEXMATCH -MONDO:0008881 kyphomelic dysplasia skos:exactMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphomelic dysplasia LEXMATCH -MONDO:0008884 oculoosteocutaneous syndrome skos:exactMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoosteocutaneous syndrome LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bsg syndrome LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elsahy-waters syndrome LEXMATCH -MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym elsahy-waters syndrome LEXMATCH -MONDO:0008888 Williams-Campbell syndrome skos:exactMatch Orphanet:411501 Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams-campbell syndrome LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:exactMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thromboangiitis obliterans LEXMATCH -MONDO:0008889 thromboangiitis obliterans skos:exactMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thromboangiitis obliterans LEXMATCH -MONDO:0008891 riboflavin transporter deficiency skos:exactMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label riboflavin transporter deficiency LEXMATCH -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 1 LEXMATCH -MONDO:0008893 C syndrome skos:exactMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c syndrome LEXMATCH -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:exactMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-hypertrichosis-intellectual disability syndrome LEXMATCH -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary arterial and articular multiple calcification syndrome LEXMATCH -MONDO:0008896 campomelia, Cumming type skos:exactMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label campomelia, cumming type LEXMATCH -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:exactMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 1 LEXMATCH -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:exactMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 2 LEXMATCH -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:exactMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tel hashomer camptodactyly syndrome LEXMATCH -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label predisposition to invasive fungal disease due to card9 deficiency LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ia LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ia LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ia LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1a LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ia LEXMATCH -MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphomannomutase 2 deficiency LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iia LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iia LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iia LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2a LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iia LEXMATCH -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym n-acetylglucosaminyltransferase 2 deficiency LEXMATCH -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome LEXMATCH -MONDO:0008917 heart defects-limb shortening syndrome skos:exactMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart defects-limb shortening syndrome LEXMATCH -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine-acylcarnitine translocase deficiency LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carnitine transporter defect LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carnitine uptake deficiency LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cud LEXMATCH -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deficiency of plasma-membrane carnitine transporter LEXMATCH -MONDO:0008921 carnosinemia skos:exactMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carnosinase deficiency LEXMATCH -MONDO:0008922 Sengers syndrome skos:exactMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sengers syndrome LEXMATCH -MONDO:0008922 Sengers syndrome skos:exactMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sengers syndrome LEXMATCH -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive palmoplantar keratoderma and congenital alopecia LEXMATCH -MONDO:0008926 COFS syndrome skos:exactMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cofs syndrome LEXMATCH -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:exactMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome LEXMATCH -MONDO:0008928 cataract-ataxia-deafness syndrome skos:exactMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-ataxia-deafness syndrome LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cenani syndactyly LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cenani-lenz syndactyly LEXMATCH -MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndactyly type 7 LEXMATCH -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:exactMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-ectodermal dysplasia syndrome LEXMATCH -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-hypogonadism syndrome LEXMATCH -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:exactMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset cerebellar ataxia with retained tendon reflexes LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym near total absence of cerebellum LEXMATCH -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subtotal absence of cerebellum LEXMATCH -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:exactMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic fibrosis-renal cysts-intellectual disability syndrome LEXMATCH -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 2 LEXMATCH -MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral striopallidodentate calcinosis LEXMATCH -MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrotendinous xanthomatosis LEXMATCH -MONDO:0008959 CHAND syndrome skos:exactMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chand syndrome LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease-hearing loss-intellectual disability syndrome LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers LEXMATCH -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disease-hearing loss-intellectual disability syndrome LEXMATCH -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4a LEXMATCH -MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 1 LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chédiak-higashi disease LEXMATCH -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chédiak-higashi-steinbrink syndrome LEXMATCH -MONDO:0008965 CHARGE syndrome skos:exactMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charge syndrome LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:exactMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aagenaes syndrome LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:exactMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aagenaes syndrome LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2-methylacyl-coa racemase deficiency LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-methyl-acyl-coa racemase deficiency LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome LEXMATCH -MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 4 LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blomstrand chondrodysplasia LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blomstrand osteochondrodysplasia LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia, blomstrand type LEXMATCH -MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blomstrand lethal chondrodysplasia LEXMATCH -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 1 LEXMATCH -MONDO:0008973 chondrodysplasia punctata, Toriello type skos:exactMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata, toriello type LEXMATCH -MONDO:0008974 Greenberg dysplasia skos:exactMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label greenberg dysplasia LEXMATCH -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otospondylomegaepiphyseal dysplasia LEXMATCH -MONDO:0008977 chondrosarcoma skos:exactMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrosarcoma LEXMATCH -MONDO:0008978 chordoma skos:exactMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chordoma LEXMATCH -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-hypogonadism-choroidal dystrophy syndrome LEXMATCH -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:exactMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile choroidocerebral calcification syndrome LEXMATCH -MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central areolar choroidal dystrophy LEXMATCH -MONDO:0008988 citrullinemia type I skos:exactMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia type i LEXMATCH -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:exactMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verloove vanhorick-brubakk syndrome LEXMATCH -MONDO:0008992 Juberg-Hayward syndrome skos:exactMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juberg-hayward syndrome LEXMATCH -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:exactMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-stapes fixation-oligodontia syndrome LEXMATCH -MONDO:0008995 Yunis-Varon syndrome skos:exactMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yunis-varon syndrome LEXMATCH -MONDO:0008998 Cockayne syndrome type 3 skos:exactMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 3 LEXMATCH -MONDO:0008999 Cohen syndrome skos:exactMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cohen syndrome LEXMATCH -MONDO:0009000 familial reactive perforating collagenosis skos:exactMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial reactive perforating collagenosis LEXMATCH -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:exactMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular coloboma-cleft palate-hallux valgus syndrome LEXMATCH -MONDO:0009007 Jalili syndrome skos:exactMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jalili syndrome LEXMATCH -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ostravik-lindemann-solberg syndrome LEXMATCH -MONDO:0009009 hypoplasminogenemia skos:exactMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplasminogenemia LEXMATCH -MONDO:0009010 aortic arch interruption skos:exactMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch interruption LEXMATCH -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:exactMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple pterygium-malignant hyperthermia syndrome LEXMATCH -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal dystrophy-perceptive deafness syndrome LEXMATCH -MONDO:0009018 central cloudy dystrophy of François skos:exactMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central cloudy dystrophy of françois LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive ched LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive congenital hereditary endothelial dystrophy LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital hereditary endothelial dystrophy type 2 LEXMATCH -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hereditary endothelial dystrophy LEXMATCH -MONDO:0009020 macular corneal dystrophy skos:exactMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular corneal dystrophy LEXMATCH -MONDO:0009021 Toriello-Carey syndrome skos:exactMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toriello-carey syndrome LEXMATCH -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:exactMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical blindness-intellectual disability-polydactyly syndrome LEXMATCH -MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apparent mineralocorticoid excess LEXMATCH -MONDO:0009026 Costello syndrome skos:exactMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label costello syndrome LEXMATCH -MONDO:0009028 Crane-Heise syndrome skos:exactMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crane-heise syndrome LEXMATCH -MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniodiaphyseal dysplasia LEXMATCH -MONDO:0009032 cranioectodermal dysplasia skos:exactMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia LEXMATCH -MONDO:0009033 temtamy syndrome skos:exactMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temtamy syndrome LEXMATCH -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:exactMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiocranial syndrome, pfeiffer type LEXMATCH -MONDO:0009039 Baller-Gerold syndrome skos:exactMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baller-gerold syndrome LEXMATCH -MONDO:0009042 craniotelencephalic dysplasia skos:exactMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniotelencephalic dysplasia LEXMATCH -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome LEXMATCH -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:exactMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-nephropathy-encephalopathy syndrome LEXMATCH -MONDO:0009046 Fraser syndrome skos:exactMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraser syndrome LEXMATCH -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cushing syndrome due to macronodular adrenal hyperplasia LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym corticotroph pituitary adenoma LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary corticotroph micro-adenoma LEXMATCH -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary-dependent cushing syndrome LEXMATCH -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:exactMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous photosensitivity-lethal colitis syndrome LEXMATCH -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aldh18a1-related de barsy syndrome LEXMATCH -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2, classic type LEXMATCH -MONDO:0009055 cutis marmorata telangiectatica congenita skos:exactMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis marmorata telangiectatica congenita LEXMATCH -MONDO:0009058 cystathioninuria skos:exactMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystathioninuria LEXMATCH -MONDO:0009061 cystic fibrosis skos:exactMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis LEXMATCH -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:exactMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis-gastritis-megaloblastic anemia syndrome LEXMATCH -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventriculomegaly-cystic kidney disease LEXMATCH -MONDO:0009064 ocular cystinosis skos:exactMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cystinosis LEXMATCH -MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile nephropathic cystinosis LEXMATCH -MONDO:0009067 cystinuria skos:exactMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated cox deficiency LEXMATCH -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex iv deficiency LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactic acidosis, saguenay-lac-saint-jean type LEXMATCH -MONDO:0009070 D-glyceric aciduria skos:exactMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d-glyceric aciduria LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:exactMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary renal hypouricemia LEXMATCH -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:exactMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome LEXMATCH -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:exactMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dandy-walker malformation-postaxial polydactyly syndrome LEXMATCH -MONDO:0009079 DOORS syndrome skos:exactMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label doors syndrome LEXMATCH -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high myopia-sensorineural deafness syndrome LEXMATCH -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:exactMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conductive deafness-malformed external ear syndrome LEXMATCH -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:exactMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conductive deafness-ptosis-skeletal anomalies syndrome LEXMATCH -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:exactMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-vitiligo-achalasia syndrome LEXMATCH -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:exactMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-small bowel diverticulosis-neuropathy syndrome LEXMATCH -MONDO:0009089 deafness-oligodontia syndrome skos:exactMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-oligodontia syndrome LEXMATCH -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:exactMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plo-sl LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy LEXMATCH -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasu-hakola disease LEXMATCH -MONDO:0009093 dermatoleukodystrophy skos:exactMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatoleukodystrophy LEXMATCH -MONDO:0009094 dermochondrocorneal dystrophy skos:exactMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermochondrocorneal dystrophy LEXMATCH -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:exactMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatoosteolysis, kirghizian type LEXMATCH -MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label donnai-barrow syndrome LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phenotypic diarrhea LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sd/the LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic diarrhea/tricho-hepato-enteric syndrome LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tricho-hepato-enteric syndrome LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichohepatoenteric syndrome LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic diarrhea LEXMATCH -MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trichohepatoenteric syndrome LEXMATCH -MONDO:0009106 diastematomyelia skos:exactMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diastematomyelia LEXMATCH -MONDO:0009106 diastematomyelia skos:exactMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scm type 1 LEXMATCH -MONDO:0009106 diastematomyelia skos:exactMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split cord malformation type 1 LEXMATCH -MONDO:0009106 diastematomyelia skos:exactMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diastematomyelia LEXMATCH -MONDO:0009107 diastrophic dysplasia skos:exactMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia LEXMATCH -MONDO:0009109 lysinuric protein intolerance skos:exactMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysinuric protein intolerance LEXMATCH -MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicarboxylic aminoaciduria LEXMATCH -MONDO:0009111 dihydropyrimidinuria skos:exactMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropyrimidinuria LEXMATCH -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 2 LEXMATCH -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to diphosphoglycerate mutase deficiency LEXMATCH -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sucrase-isomaltase deficiency LEXMATCH -MONDO:0009115 congenital lactase deficiency skos:exactMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency LEXMATCH -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:exactMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfanoid syndrome, de silva type LEXMATCH -MONDO:0009121 von Voss-Cherstvoy syndrome skos:exactMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von voss-cherstvoy syndrome LEXMATCH -MONDO:0009123 orthostatic hypotension 1 skos:exactMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine beta-hydroxylase deficiency LEXMATCH -MONDO:0009124 Dubowitz syndrome skos:exactMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dubowitz syndrome LEXMATCH -MONDO:0009126 duodenal atresia skos:exactMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal atresia LEXMATCH -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyggve-melchior-clausen disease LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type iii LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riley-day syndrome LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia LEXMATCH -MONDO:0009131 Riley-Day syndrome skos:exactMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym riley-day syndrome LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camrq syndrome LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-progressive cerebellar ataxia-intellectual disability syndrome LEXMATCH -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysequilibrium syndrome LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda ii LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 2 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type ii LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 2 LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sec23b-cdg LEXMATCH -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 2 LEXMATCH -MONDO:0009138 dysosteosclerosis skos:exactMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysosteosclerosis LEXMATCH -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:exactMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyssegmental dysplasia, rolland-desbuquois type LEXMATCH -MONDO:0009144 Ebstein anomaly skos:exactMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebstein anomaly of the tricuspid valve LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eccrine tumors-ectodermal dysplasia LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome LEXMATCH -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome LEXMATCH -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:exactMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-sensorineural deafness syndrome LEXMATCH -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:exactMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome LEXMATCH -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:exactMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome LEXMATCH -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-ectodermal dysplasia syndrome LEXMATCH -MONDO:0009155 EEM syndrome skos:exactMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eem syndrome LEXMATCH -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:exactMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectrodactyly-polydactyly syndrome LEXMATCH -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 7c LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondroectodermal dysplasia LEXMATCH -MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermic dysplasia LEXMATCH -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 4 LEXMATCH -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:exactMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bonnemann-meinecke-reich syndrome LEXMATCH -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral proliferative glomeruloid vasculopathy LEXMATCH -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephaloclastic proliferative vasculopathy LEXMATCH -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephaly/hydranencephaly due to cerebral vasculopathy LEXMATCH -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly/hydrocephaly LEXMATCH -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler syndrome LEXMATCH -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fowler syndrome LEXMATCH -MONDO:0009169 endocardial fibroelastosis skos:exactMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis LEXMATCH -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enteropathy due to enteropeptidase deficiency LEXMATCH -MONDO:0009175 eosinophilic fasciitis skos:exactMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic fasciitis LEXMATCH -MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis LEXMATCH -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:exactMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dystrophic epidermolysis bullosa generalisata gravis LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rdeb generalisata gravis LEXMATCH -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rdeb, hallopeau-siemens type LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-md LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy with epidermolysis bullosa simplex LEXMATCH -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex with muscular dystrophy LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa letalis LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-h LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa generalisata gravis LEXMATCH -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz-pearson type LEXMATCH -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa with pyloric atresia LEXMATCH -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelocerebrohypohidrotic syndrome LEXMATCH -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:exactMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label celiac disease-epilepsy-cerebral calcification syndrome LEXMATCH -MONDO:0009188 epilepsy-telangiectasia syndrome skos:exactMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy-telangiectasia syndrome LEXMATCH -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 4 LEXMATCH -MONDO:0009191 Lowry-Wood syndrome skos:exactMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowry-wood syndrome LEXMATCH -MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolcott-rallison syndrome LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:exactMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caebv syndrome LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:exactMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic ebv infection syndrome LEXMATCH -MONDO:0009194 immunodeficiency 32B skos:exactMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic epstein-barr virus infection syndrome LEXMATCH -MONDO:0009196 ermine phenotype skos:exactMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ermine phenotype LEXMATCH -MONDO:0009197 transient erythroblastopenia of childhood skos:exactMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient erythroblastopenia of childhood LEXMATCH -MONDO:0009198 congenital lethal erythroderma skos:exactMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lethal erythroderma LEXMATCH -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:exactMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eyebrow duplication-syndactyly syndrome LEXMATCH -MONDO:0009202 Thakker-Donnai syndrome skos:exactMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thakker-donnai syndrome LEXMATCH -MONDO:0009203 focal facial dermal dysplasia type III skos:exactMatch Orphanet:1807 Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type iii LEXMATCH -MONDO:0009204 lethal faciocardiomelic dysplasia skos:exactMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal faciocardiomelic dysplasia LEXMATCH -MONDO:0009205 faciocardiorenal syndrome skos:exactMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label faciocardiorenal syndrome LEXMATCH -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:exactMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive faciodigitogenital syndrome LEXMATCH -MONDO:0009210 congenital factor V deficiency skos:exactMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor v deficiency LEXMATCH -MONDO:0009211 congenital factor VII deficiency skos:exactMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor vii deficiency LEXMATCH -MONDO:0009212 congenital factor X deficiency skos:exactMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor x deficiency LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to glut2 deficiency LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glut2 deficiency LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to glut2 deficiency LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fanconi-bickel syndrome LEXMATCH -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disease due to glut2 deficiency LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid ceramidase deficiency LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym farber lipogranulomatosis LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label farber disease LEXMATCH -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym farber lipogranulomatosis LEXMATCH -MONDO:0009221 femur-fibula-ulna complex skos:exactMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femur-fibula-ulna complex LEXMATCH -MONDO:0009222 Gollop-Wolfgang complex skos:exactMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gollop-wolfgang complex LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to lhb deficiency LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to lhb deficiency LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to luteinizing hormone subunit beta deficiency LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency LEXMATCH -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leydig cell hypoplasia due to lhb deficiency LEXMATCH -MONDO:0009224 fetal iodine syndrome skos:exactMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal iodine syndrome LEXMATCH -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:exactMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-facial dysmorphism syndrome LEXMATCH -MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch Orphanet:498474 Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyaline fibromatosis syndrome LEXMATCH -MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym du pan syndrome LEXMATCH -MONDO:0009232 Fuhrmann syndrome skos:exactMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fuhrmann syndrome LEXMATCH -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:exactMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibulo-ulnar hypoplasia-renal anomalies syndrome LEXMATCH -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital high-molecular-weight kininogen deficiency LEXMATCH -MONDO:0009235 familial benign flecked retina skos:exactMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial benign flecked retina LEXMATCH -MONDO:0009236 Kandori fleck retina skos:exactMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kandori fleck retina LEXMATCH -MONDO:0009238 hereditary folate malabsorption skos:exactMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption LEXMATCH -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated fsh deficiency LEXMATCH -MONDO:0009240 formiminoglutamic aciduria skos:exactMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label formiminoglutamic aciduria LEXMATCH -MONDO:0009241 fountain syndrome skos:exactMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fountain syndrome LEXMATCH -MONDO:0009242 brittle cornea syndrome skos:exactMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brittle cornea syndrome LEXMATCH -MONDO:0009247 frontofacionasal dysplasia skos:exactMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontofacionasal dysplasia LEXMATCH -MONDO:0009249 hereditary fructose intolerance skos:exactMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary fructose intolerance LEXMATCH -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fructose-1,6-bisphosphatase deficiency LEXMATCH -MONDO:0009252 essential fructosuria skos:exactMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential fructosuria LEXMATCH -MONDO:0009253 Fryns syndrome skos:exactMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fryns syndrome LEXMATCH -MONDO:0009254 fucosidosis skos:exactMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fucosidosis LEXMATCH -MONDO:0009255 galactokinase deficiency skos:exactMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactokinase deficiency LEXMATCH -MONDO:0009257 galactose epimerase deficiency skos:exactMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactose epimerase deficiency LEXMATCH -MONDO:0009258 classic galactosemia skos:exactMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic galactosemia LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutamate-cysteine ligase deficiency LEXMATCH -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gamma-glutamylcysteine synthetase deficiency LEXMATCH -MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 1 LEXMATCH -MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 2 LEXMATCH -MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 3 LEXMATCH -MONDO:0009263 GAPO syndrome skos:exactMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gapo syndrome LEXMATCH -MONDO:0009264 gastroschisis skos:exactMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis LEXMATCH -MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency LEXMATCH -MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-cerebral juvenile gaucher disease LEXMATCH -MONDO:0009266 Gaucher disease type II skos:exactMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute neuronopathic gaucher disease LEXMATCH -MONDO:0009266 Gaucher disease type II skos:exactMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile cerebral gaucher disease LEXMATCH -MONDO:0009267 Gaucher disease type III skos:exactMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral juvenile and adult form of gaucher disease LEXMATCH -MONDO:0009267 Gaucher disease type III skos:exactMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic neuronopathic gaucher disease LEXMATCH -MONDO:0009267 Gaucher disease type III skos:exactMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disease, subacute neuronopathic type LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH -MONDO:0009270 genito-palato-cardiac syndrome skos:exactMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gardner-silengo-wachtel syndrome LEXMATCH -MONDO:0009271 geroderma osteodysplastica skos:exactMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geroderma osteodysplastica LEXMATCH -MONDO:0009272 German syndrome skos:exactMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label german syndrome LEXMATCH -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ghosal hematodiaphyseal dysplasia LEXMATCH -MONDO:0009275 neonatal hemochromatosis skos:exactMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal hemochromatosis LEXMATCH -MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bernard-soulier syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2a syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3a syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4a syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aaa syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achalasia-addisonianism-alacrima syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal insufficiency-achalasia-alacrima syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allgrove syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double a syndrome LEXMATCH -MONDO:0009279 triple-A syndrome skos:exactMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym quaternary a syndrome LEXMATCH -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaryl-coa dehydrogenase deficiency LEXMATCH -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0009283 glutaric acidemia type 3 skos:exactMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaric acidemia type 3 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutathione synthetase deficiency without 5-oxoprolinuria LEXMATCH -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gamma-glutamyl transpeptidase deficiency LEXMATCH -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glucose-6-phosphatase deficiency type ia LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6p deficiency type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6p translocase deficiency LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6pt deficiency LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to g6p deficiency type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 1b LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glucose-6-phosphatase deficiency type 1b LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glucose-6-phosphatase transport defect type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 1b LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to g6p deficiency type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to g6pt deficiency LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 1 non a LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 1b LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ib LEXMATCH -MONDO:0009288 glycogen storage disease Ib skos:exactMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsdib LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-1,4-glucosidase acid deficiency LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 2 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ii LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to acid maltase deficiency LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 2 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ii LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to acid maltase deficiency LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 2 LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ii LEXMATCH -MONDO:0009290 glycogen storage disease II skos:exactMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pompe disease LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amylo-1,6-glucosidase deficiency LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cori disease LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cori-forbes disease LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disease LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gde deficiency LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 3 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type iii LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glycogen debranching enzyme deficiency LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 3 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type iii LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to glycogen debranching enzyme deficiency LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 3 LEXMATCH -MONDO:0009291 glycogen storage disease III skos:exactMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limit dextrinosis LEXMATCH -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 5 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type v LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to muscle glycogen phosphorylase deficiency LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 5 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type v LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to muscle glycogen phosphorylase deficiency LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 5 LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type v LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcardle disease LEXMATCH -MONDO:0009293 glycogen storage disease V skos:exactMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myophosphorylase deficiency LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 6 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type vi LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to liver glycogen phosphorylase deficiency LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 6 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type vi LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to liver glycogen phosphorylase deficiency LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 6 LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type vi LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic glycogen phosphorylase deficiency LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic phosphorylase deficiency LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hers disease LEXMATCH -MONDO:0009294 glycogen storage disease VI skos:exactMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver glycogen phosphorylase deficiency LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 7 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type vii LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to muscle phosphofructokinase deficiency LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 7 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type vii LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to muscle phosphofructokinase deficiency LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 7 LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type vii LEXMATCH -MONDO:0009295 glycogen storage disease VII skos:exactMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tarui disease LEXMATCH -MONDO:0009297 familial renal glucosuria skos:exactMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial renal glucosuria LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx complete gonadal dysgenesis LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx ovarian dysgenesis LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx pure gonadal dysgenesis LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypergonadotropic ovarian dysgenesis LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xx female gonadal dysgenesis LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xx-gd LEXMATCH -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx gonadal dysgenesis LEXMATCH -MONDO:0009300 Perrault syndrome 1 skos:exactMatch Orphanet:642945 Perrault syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perrault syndrome type 1 LEXMATCH -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:exactMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xy type gonadal dysgenesis-associated anomalies syndrome LEXMATCH -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-glomerular basement membrane disease LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag 1/2 deficiency LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag 1/2 deficiency LEXMATCH -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:exactMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipodystrophy due to peptidic growth factors deficiency LEXMATCH -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:exactMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grubben-de cock-borghgraef syndrome LEXMATCH -MONDO:0009315 congenital factor XII deficiency skos:exactMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xii deficiency LEXMATCH -MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hallermann-streiff syndrome LEXMATCH -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pantothenate kinase-associated neurodegeneration LEXMATCH -MONDO:0009320 Hall-Riggs syndrome skos:exactMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hall-riggs syndrome LEXMATCH -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:exactMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hallux varus-preaxial polysyndactyly syndrome LEXMATCH -MONDO:0009324 Hartnup disease skos:exactMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hartnup disease LEXMATCH -MONDO:0009326 congenital heart block skos:exactMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block LEXMATCH -MONDO:0009331 isolated hemihyperplasia skos:exactMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hemihyperplasia LEXMATCH -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease-immunodeficiency syndrome LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency LEXMATCH -MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 2 LEXMATCH -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:exactMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-spherocytic hemolytic anemia due to hexokinase deficiency LEXMATCH -MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santos-mateus-leal syndrome LEXMATCH -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:exactMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disease-hearing loss-polydactyly syndrome LEXMATCH -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:exactMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-nail hypoplasia-dysmorphism syndrome LEXMATCH -MONDO:0009345 histidinemia skos:exactMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histidinemia LEXMATCH -MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label histidinuria-renal tubular defect syndrome LEXMATCH -MONDO:0009348 classic Hodgkin lymphoma skos:exactMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic hodgkin lymphoma LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleft palate-potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label holzgreve syndrome LEXMATCH -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holzgreve-wagner-rehder syndrome LEXMATCH -MONDO:0009352 classic homocystinuria skos:exactMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic homocystinuria LEXMATCH -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homocystinuria due to methylene tetrahydrofolate reductase deficiency LEXMATCH -MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cble LEXMATCH -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome LEXMATCH -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:exactMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay-hydrocephaly-lung hypoplasia syndrome LEXMATCH -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:exactMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephaly-tall stature-joint laxity syndrome LEXMATCH -MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mckusick-kaufman syndrome LEXMATCH -MONDO:0009369 non-immune hydrops fetalis skos:exactMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-immune hydrops fetalis LEXMATCH -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l-2-hydroxyglutaric aciduria LEXMATCH -MONDO:0009371 3-hydroxyisobutyric aciduria skos:exactMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxyisobutyric aciduria LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kynureninase deficiency LEXMATCH -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria LEXMATCH -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:exactMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seizures-intellectual disability due to hydroxylysinuria syndrome LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbamoyl-phosphate synthetase deficiency LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbamoyl-phosphate synthetase i deficiency LEXMATCH -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cps1 deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH -MONDO:0009378 hyper-beta-alaninemia skos:exactMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-beta-alaninemia LEXMATCH -MONDO:0009379 Rotor syndrome skos:exactMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rotor syndrome LEXMATCH -MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dubin-johnson syndrome LEXMATCH -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:exactMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient familial neonatal hyperbilirubinemia LEXMATCH -MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial lipoprotein lipase deficiency LEXMATCH -MONDO:0009388 hyperlysinemia skos:exactMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlysinemia LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hhh syndrome LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine carrier deficiency LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine translocase deficiency LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornt1 deficiency LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym triple h syndrome LEXMATCH -MONDO:0009393 ornithine translocase deficiency skos:exactMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithine translocase deficiency LEXMATCH -MONDO:0009394 juvenile Paget disease skos:exactMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile paget disease LEXMATCH -MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperostosis corticalis generalisata LEXMATCH -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:exactMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal severe primary hyperparathyroidism LEXMATCH -MONDO:0009400 hyperprolinemia type 1 skos:exactMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolinemia type 1 LEXMATCH -MONDO:0009401 hyperprolinemia type 2 skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolinemia type 2 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 2 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrofrontofacionasal syndrome type 2 LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naguib-richieri-costa syndrome LEXMATCH -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:exactMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertelorism-hypospadias-polysyndactyly syndrome LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bixler-christian-gorlin syndrome LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmc syndrome LEXMATCH -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertelorism-microtia-facial clefting syndrome LEXMATCH -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:exactMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical hypertrichosis-peripheral neuropathy syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apeced syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aps type 1 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune polyendocrine syndrome type 1 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune polyglandular syndrome type 1 LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ham syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medac syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple endocrine deficiency-addison disease-candidiasis syndrome LEXMATCH -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune polyendocrine syndrome type 1 LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to liver glycogen synthase deficiency LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 0a LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 0a LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to hepatic glycogen synthase deficiency LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 0a LEXMATCH -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease due to hepatic glycogen synthase deficiency LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoinsulinemic hypoglycemia and body hemihypertrophy LEXMATCH -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:exactMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypergonadotropic hypogonadism-cataract syndrome LEXMATCH -MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label woodhouse-sakati syndrome LEXMATCH -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:exactMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypergonadotropic hypogonadism-partial alopecia syndrome LEXMATCH -MONDO:0009424 Bartter disease type 2 skos:exactMatch Orphanet:620220 Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 LEXMATCH -MONDO:0009425 hypomandibular faciocranial dysostosis skos:exactMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomandibular faciocranial dysostosis LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hrd syndrome LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoparathyroidism-intellectual disability-dysmorphism syndrome LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoparathyroidism-short stature-intellectual disability-seizures syndrome LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richardson-kirk syndrome LEXMATCH -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanjad-sakati syndrome LEXMATCH -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypophosphatemic rickets with hypercalciuria LEXMATCH -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:exactMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias-intellectual disability, goldblatt type syndrome LEXMATCH -MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bamforth-lazarus syndrome LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hi LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis congenita, harlequin type LEXMATCH -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label harlequin ichthyosis LEXMATCH -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:exactMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome LEXMATCH -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:exactMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome LEXMATCH -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:exactMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-intellectual disability-dwarfism-renal impairment syndrome LEXMATCH -MONDO:0009448 iminoglycinuria skos:exactMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iminoglycinuria LEXMATCH -MONDO:0009451 Nezelof syndrome skos:exactMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nezelof syndrome LEXMATCH -MONDO:0009451 Nezelof syndrome skos:exactMatch Orphanet:83471 T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nezelof syndrome LEXMATCH -MONDO:0009452 Vici syndrome skos:exactMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vici syndrome LEXMATCH -MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schimke immuno-osseous dysplasia LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:exactMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macrocephalic sperm head syndrome LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:exactMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to macrozoospermia LEXMATCH -MONDO:0009461 spermatogenic failure 5 skos:exactMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label male infertility due to large-headed multiflagellar polyploid spermatozoa LEXMATCH -MONDO:0009465 multiple intestinal atresia skos:exactMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple intestinal atresia LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:exactMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign intracranial hypertension LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:exactMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotumor cerebri LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:exactMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic intracranial hypertension LEXMATCH -MONDO:0009468 pseudotumor cerebri skos:exactMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudotumor cerebri LEXMATCH -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis type 1 LEXMATCH -MONDO:0009473 isotretinoin-like syndrome skos:exactMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isotretinoin-like syndrome LEXMATCH -MONDO:0009475 isovaleric acidemia skos:exactMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isovaleric acidemia LEXMATCH -MONDO:0009476 atresia of small intestine skos:exactMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jejunal atresia LEXMATCH -MONDO:0009476 atresia of small intestine skos:exactMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jejunoileal atresia LEXMATCH -MONDO:0009476 atresia of small intestine skos:exactMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small intestinal atresia LEXMATCH -MONDO:0009476 atresia of small intestine skos:exactMatch Orphanet:1201 Small bowel atresia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atresia of small intestine LEXMATCH -MONDO:0009477 Stromme syndrome skos:exactMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome LEXMATCH -MONDO:0009477 Stromme syndrome skos:exactMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stromme syndrome LEXMATCH -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to dock8 deficiency LEXMATCH -MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label johanson-blizzard syndrome LEXMATCH -MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with oculorenal defect LEXMATCH -MONDO:0009483 Kapur-Toriello syndrome skos:exactMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kapur-toriello syndrome LEXMATCH -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebrofacial syndrome, kaufman type LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive kenny-caffey syndrome LEXMATCH -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:exactMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary palmoplantar keratoderma, gamborg-nielsen type LEXMATCH -MONDO:0009490 Papillon-Lefevre disease skos:exactMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantar-periodontopathy syndrome LEXMATCH -MONDO:0009491 Haim-Munk syndrome skos:exactMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haim-munk syndrome LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oxct1 deficiency LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scot deficiency LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinyl-coa acetoacetate transferase deficiency LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinyl-coa:3-ketoacid coa transferase deficiency LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label succinyl-coa:3-oxoacid coa transferase deficiency LEXMATCH -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinyl-coa:3-ketoacid coa transferase deficiency LEXMATCH -MONDO:0009493 Richards-Rundle syndrome skos:exactMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richards-rundle syndrome LEXMATCH -MONDO:0009495 Keutel syndrome skos:exactMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keutel syndrome LEXMATCH -MONDO:0009498 lethal Kniest-like dysplasia skos:exactMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal kniest-like dysplasia LEXMATCH -MONDO:0009499 Krabbe disease skos:exactMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label krabbe disease LEXMATCH -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:exactMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic myopathy due to lactate transporter defect LEXMATCH -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:exactMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e2 deficiency LEXMATCH -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:exactMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e3-binding protein deficiency LEXMATCH -MONDO:0009506 specific granule deficiency skos:exactMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil-specific granule deficiency LEXMATCH -MONDO:0009506 specific granule deficiency skos:exactMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recurrent infection due to specific granule deficiency LEXMATCH -MONDO:0009507 Lambert syndrome skos:exactMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lambert syndrome LEXMATCH -MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label landau-kleffner syndrome LEXMATCH -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen-like syndrome, b3gat3 type LEXMATCH -MONDO:0009512 lethal Larsen-like syndrome skos:exactMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal larsen-like syndrome LEXMATCH -MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:exactMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngo-onycho-cutaneous syndrome LEXMATCH -MONDO:0009514 Laurence-Moon syndrome skos:exactMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laurence-moon syndrome LEXMATCH -MONDO:0009515 Norum disease skos:exactMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complete lcat deficiency LEXMATCH -MONDO:0009515 Norum disease skos:exactMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym norum disease LEXMATCH -MONDO:0009515 Norum disease skos:exactMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym norum disease LEXMATCH -MONDO:0009516 absence deformity of leg-cataract syndrome skos:exactMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence deformity of leg-cataract syndrome LEXMATCH -MONDO:0009517 Donohue syndrome skos:exactMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym donohue syndrome LEXMATCH -MONDO:0009517 Donohue syndrome skos:exactMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leprechaunism LEXMATCH -MONDO:0009517 Donohue syndrome skos:exactMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym donohue syndrome LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxy-3-methylglutaric aciduria LEXMATCH -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:exactMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome LEXMATCH -MONDO:0009523 Lichtenstein syndrome skos:exactMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichtenstein syndrome LEXMATCH -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:exactMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-spasticity-ectrodactyly syndrome LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:exactMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 10q24 microduplication syndrome LEXMATCH -MONDO:0009525 split hand-foot malformation 3 skos:exactMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buttiens-fryns syndrome LEXMATCH -MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibular aplasia-tibial campomelia-oligosyndactyly syndrome LEXMATCH -MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fatco syndrome LEXMATCH -MONDO:0009528 chylomicron retention disease skos:exactMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chylomicron retention disease LEXMATCH -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:exactMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e3 deficiency LEXMATCH -MONDO:0009530 lipoid proteinosis skos:exactMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoid proteinosis LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly due to 17p13.3 deletion LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17p13.3 LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 17p LEXMATCH -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label miller-dieker syndrome LEXMATCH -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:exactMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dahlberg-borer-newcomer syndrome LEXMATCH -MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid interstitial pneumonia LEXMATCH -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:exactMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prominent glabella-microcephaly-hypogenitalism syndrome LEXMATCH -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome skos:exactMatch Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrosomia-microphthalmia-cleft palate syndrome LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhhnc with severe ocular involvement LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercalciuria-bilateral macular coloboma syndrome LEXMATCH -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-blumberg-imahorn syndrome LEXMATCH -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:exactMatch Orphanet:364055 Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-childhood-onset retinal dystrophy LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhhnc without severe ocular involvement LEXMATCH -MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal hypomagnesemia type 3 LEXMATCH -MONDO:0009552 mal de Meleda skos:exactMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mal de meleda LEXMATCH -MONDO:0009556 malonic aciduria skos:exactMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malonic aciduria LEXMATCH -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia with type a lipodystrophy LEXMATCH -MONDO:0009560 oculotrichoanal syndrome skos:exactMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculotrichoanal syndrome LEXMATCH -MONDO:0009561 alpha-mannosidosis skos:exactMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis LEXMATCH -MONDO:0009562 beta-mannosidosis skos:exactMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-mannosidosis LEXMATCH -MONDO:0009563 maple syrup urine disease skos:exactMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maple syrup urine disease LEXMATCH -MONDO:0009564 Marden-Walker syndrome skos:exactMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marden-walker syndrome LEXMATCH -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:exactMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-glomerulonephritis-marfanoid habitus syndrome LEXMATCH -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:exactMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfanoid habitus-autosomal recessive intellectual disability syndrome LEXMATCH -MONDO:0009568 mast syndrome skos:exactMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast syndrome LEXMATCH -MONDO:0009568 mast syndrome skos:exactMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 21 LEXMATCH -MONDO:0009568 mast syndrome skos:exactMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mast syndrome LEXMATCH -MONDO:0009569 Hennekam-Beemer syndrome skos:exactMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hennekam-beemer syndrome LEXMATCH -MONDO:0009570 McDonough syndrome skos:exactMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mcdonough syndrome LEXMATCH -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiamine-responsive megaloblastic anemia syndrome LEXMATCH -MONDO:0009577 megalocornea-intellectual disability syndrome skos:exactMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea-intellectual disability syndrome LEXMATCH -MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurocutaneous melanocytosis LEXMATCH -MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frank-ter haar syndrome LEXMATCH -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:exactMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome LEXMATCH -MONDO:0009582 Mietens syndrome skos:exactMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mietens syndrome LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharophimosis syndrome, ohdo type LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, ohdo type LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohdo syndrome LEXMATCH -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:exactMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohdo-madokoro-sonoda syndrome LEXMATCH -MONDO:0009584 intellectual disability, Buenos-Aires type skos:exactMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability, buenos-aires type LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-mercaptopyruvate sulfurtransferase deficiency LEXMATCH -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:exactMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ampola syndrome LEXMATCH -MONDO:0009588 Langer mesomelic dysplasia skos:exactMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langer mesomelic dysplasia LEXMATCH -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:exactMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dwarfism-cleft palate-camptodactyly syndrome LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch Orphanet:309263 Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, juvenile form LEXMATCH -MONDO:0009592 metaphyseal acroscyphodysplasia skos:exactMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal acroscyphodysplasia LEXMATCH -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, sedaghatian type LEXMATCH -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:exactMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, kaitila type LEXMATCH -MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cartilage-hair hypoplasia LEXMATCH -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:exactMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, spahr type LEXMATCH -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:exactMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysostosis-intellectual disability-conductive deafness syndrome LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hibch deficiency LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methacrylic aciduria LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency LEXMATCH -MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch Orphanet:168598 Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat i/iii deficiency LEXMATCH -MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cblg LEXMATCH -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 1 LEXMATCH -MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch Orphanet:67048 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 4 LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonyl-coa mutase deficiency LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonyl-coenzyme a mutase deficiency LEXMATCH -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12-unresponsive methylmalonic aciduria LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12-responsive methylmalonic aciduria type cbla LEXMATCH -MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vitamin b12-responsive methylmalonic acidemia type cbla LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12-responsive methylmalonic aciduria, type cblb LEXMATCH -MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vitamin b12-responsive methylmalonic acidemia type cblb LEXMATCH -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:exactMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency LEXMATCH -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:exactMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism, toriello type LEXMATCH -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:exactMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cardiomyopathy syndrome LEXMATCH -MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-micromelia syndrome LEXMATCH -MONDO:0009620 Say-Barber-Miller syndrome skos:exactMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label say-barber-miller syndrome LEXMATCH -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:exactMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cervical spine fusion anomalies syndrome LEXMATCH -MONDO:0009622 Jawad syndrome skos:exactMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jawad syndrome LEXMATCH -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nijmegen breakage syndrome LEXMATCH -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym baraitser-brett-piesowicz syndrome LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym baraitser-reardon syndrome LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bilateral band-like calcification with polymicrogyria LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blc-pmg LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-intracranial calcification-intellectual disability syndrome LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome LEXMATCH -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome LEXMATCH -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galloway-mowat syndrome LEXMATCH -MONDO:0009635 microvillus inclusion disease skos:exactMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvillus inclusion disease LEXMATCH -MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial myopathy LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mohr syndrome LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 2 LEXMATCH -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type a LEXMATCH -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type b LEXMATCH -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:exactMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral motor neuropathy-dysautonomia syndrome LEXMATCH -MONDO:0009650 mucolipidosis type II skos:exactMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis type ii LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml 3 gamma LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml iii gamma LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis type 3 gamma LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucolipidosis type iii gamma LEXMATCH -MONDO:0009653 mucolipidosis type IV skos:exactMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis type iv LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan sulfamidase deficiency LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3a LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type a LEXMATCH -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3a LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3b LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym n-acetyl-alpha-glucosaminidase deficiency LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type b LEXMATCH -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3b LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan-alpha-glucosaminide n-acetyltransferase deficiency LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hgsnat deficiency LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3c LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiic LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type c LEXMATCH -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3c LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosamine n-acetyl-6-sulfatase deficiency LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gns deficiency LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3d LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiid LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type d LEXMATCH -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3d LEXMATCH -MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4a LEXMATCH -MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4b LEXMATCH -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6 LEXMATCH -MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 7 LEXMATCH -MONDO:0009664 mulibrey nanism skos:exactMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mulibrey nanism LEXMATCH -MONDO:0009665 biotinidase deficiency skos:exactMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biotinidase deficiency LEXMATCH -MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holocarboxylase synthetase deficiency LEXMATCH -MONDO:0009668 lethal multiple pterygium syndrome skos:exactMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal multiple pterygium syndrome LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 1 LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type i LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-i LEXMATCH -MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym werdnig-hoffmann disease LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herva disease LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple contracture syndrome, finnish type LEXMATCH -MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal congenital contracture syndrome type 1 LEXMATCH -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:exactMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-myopathy-short stature-endocrine defect syndrome LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kugelberg-welander disease LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 3 LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type iii LEXMATCH -MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-iii LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intermediate spinal muscular atrophy LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 2 LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type ii LEXMATCH -MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-ii LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2a LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to calpain deficiency LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2a LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary calpainopathy LEXMATCH -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2a LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to dysferlin deficiency LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2b LEXMATCH -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2b LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2c LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-sarcoglycanopathy LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency LEXMATCH -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2c LEXMATCH -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fukuyama congenital muscular dystrophy LEXMATCH -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:exactMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy-infantile cataract-hypogonadism syndrome LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2h LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to trim32 deficiency LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcotubular myopathy LEXMATCH -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2h LEXMATCH -MONDO:0009685 Miyoshi myopathy skos:exactMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi myopathy LEXMATCH -MONDO:0009688 myasthenia gravis skos:exactMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis LEXMATCH -MONDO:0009691 mycosis fungoides skos:exactMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycosis fungoides, alibert-bazin type LEXMATCH -MONDO:0009692 primary myelofibrosis skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary myelofibrosis LEXMATCH -MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kahler disease LEXMATCH -MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary plasmacytoma LEXMATCH -MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelomatosis LEXMATCH -MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plasma cell myeloma LEXMATCH -MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple myeloma LEXMATCH -MONDO:0009693 plasma cell myeloma skos:exactMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plasma cell myeloma LEXMATCH -MONDO:0009694 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloperoxidase deficiency LEXMATCH -MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy LEXMATCH -MONDO:0009697 Lafora disease skos:exactMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lafora disease LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonus epilepsy type 1 LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym unverricht-lundborg disease LEXMATCH -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive myoclonic epilepsy type 1 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label action myoclonus-renal failure syndrome LEXMATCH -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:exactMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, myopathic form LEXMATCH -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase 1a deficiency LEXMATCH -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:exactMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary myopathy with lactic acidosis due to iscu deficiency LEXMATCH -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:exactMatch Orphanet:636970 Autosomal recessive myosin storage myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive myosin storage myopathy LEXMATCH -MONDO:0009710 Thomsen and Becker disease skos:exactMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thomsen and becker disease LEXMATCH -MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fiber-type disproportion myopathy LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital multicore myopathy with external ophthalmoplegia LEXMATCH -MONDO:0009714 myosclerosis skos:exactMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myosclerosis LEXMATCH -MONDO:0009716 Richieri Costa-da Silva syndrome skos:exactMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richieri costa-da silva syndrome LEXMATCH -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schwartz-jampel syndrome LEXMATCH -MONDO:0009719 familial atrial myxoma skos:exactMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atrial myxoma LEXMATCH -MONDO:0009720 Keipert syndrome skos:exactMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome LEXMATCH -MONDO:0009721 Nathalie syndrome skos:exactMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nathalie syndrome LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital myopathy-cleft palate-malignant hyperthermia syndrome LEXMATCH -MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label native american myopathy LEXMATCH -MONDO:0009723 Leigh syndrome skos:exactMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leigh syndrome LEXMATCH -MONDO:0009724 nail-patella-like renal disease skos:exactMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail-patella-like renal disease LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aldd syndrome LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoinflammation-lipodystrophy-dermatosis syndrome LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proteasome disability syndrome LEXMATCH -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proteasome-associated autoinflammatory syndrome LEXMATCH -MONDO:0009727 atelosteogenesis type II skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type ii LEXMATCH -MONDO:0009728 nephronophthisis 1 skos:exactMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile nephronophthisis LEXMATCH -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:exactMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edwards-patton-dilly syndrome LEXMATCH -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:exactMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrosis-deafness-urinary tract-digital malformations syndrome LEXMATCH -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital nephrotic syndrome, finnish type LEXMATCH -MONDO:0009735 Netherton syndrome skos:exactMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label netherton syndrome LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-phosphoglycerate dehydrogenase deficiency, prenatal form LEXMATCH -MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency LEXMATCH -MONDO:0009737 galactosialidosis skos:exactMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosialidosis LEXMATCH -MONDO:0009738 sialidosis type 2 skos:exactMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis type 2 LEXMATCH -MONDO:0009740 neurofaciodigitorenal syndrome skos:exactMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofaciodigitorenal syndrome LEXMATCH -MONDO:0009742 neuroectodermal melanolysosomal disease skos:exactMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroectodermal melanolysosomal disease LEXMATCH -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln1 disease LEXMATCH -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 4 LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym navajo neuropathy LEXMATCH -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label navajo neurohepatopathy LEXMATCH -MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan LEXMATCH -MONDO:0009756 Niemann-Pick disease type A skos:exactMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym niemann-pick disease type a LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microlissencephaly type a LEXMATCH -MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly syndrome, norman-roberts type LEXMATCH -MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular motor apraxia, cogan type LEXMATCH -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:exactMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebral hypopigmentation syndrome, cross type LEXMATCH -MONDO:0009769 oculo-palato-cerebral syndrome skos:exactMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculo-palato-cerebral syndrome LEXMATCH -MONDO:0009771 oculotrichodysplasia skos:exactMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculotrichodysplasia LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculorenocerebellar syndrome LEXMATCH -MONDO:0009772 oculorenocerebellar syndrome skos:exactMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculorenocerebellar syndrome LEXMATCH -MONDO:0009773 odonto-onycho-dermal dysplasia skos:exactMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-onycho-dermal dysplasia LEXMATCH -MONDO:0009774 cloacal exstrophy skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloacal exstrophy LEXMATCH -MONDO:0009777 Oliver syndrome skos:exactMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oliver syndrome LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive omodysplasia LEXMATCH -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:exactMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal omphalocele-cleft palate syndrome LEXMATCH -MONDO:0009785 opsismodysplasia skos:exactMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opsismodysplasia LEXMATCH -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 3 LEXMATCH -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:exactMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-oral and digital anomalies syndrome LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:exactMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 3 LEXMATCH -MONDO:0009793 orofaciodigital syndrome III skos:exactMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sugarman syndrome LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym baraitser-burn syndrome LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mohr-majewski syndrome LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 4 LEXMATCH -MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 4 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 9 LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities LEXMATCH -MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome with retinal abnormalities LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoga LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperornithinemia LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperornithinemia-gyrate atrophy of choroid and retina syndrome LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine aminotransferase deficiency LEXMATCH -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithine aminotransferase deficiency LEXMATCH -MONDO:0009797 orotic aciduria skos:exactMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orotidylic decarboxylase deficiency LEXMATCH -MONDO:0009797 orotic aciduria skos:exactMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uridine monophosphate synthetase deficiency LEXMATCH -MONDO:0009798 Primrose syndrome skos:exactMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primrose syndrome LEXMATCH -MONDO:0009798 Primrose syndrome skos:exactMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-cataracts-calcified pinnae-myopathy syndrome LEXMATCH -MONDO:0009798 Primrose syndrome skos:exactMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primrose syndrome LEXMATCH -MONDO:0009801 familial osteodysplasia, Anderson type skos:exactMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial osteodysplasia, anderson type LEXMATCH -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:exactMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital osteogenesis imperfecta-microcephaly-cataracts syndrome LEXMATCH -MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 3 LEXMATCH -MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma LEXMATCH -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:exactMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive distal osteolysis syndrome LEXMATCH -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cno/crmo LEXMATCH -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:exactMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopenia-intellectual disability-sparse hair syndrome LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbonic anhydrase 2 deficiency LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guibaud-vainsel syndrome LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marble brain disease LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed renal tubular acidosis LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed rta LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 LEXMATCH -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteopetrosis with renal tubular acidosis LEXMATCH -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-pseudoglioma syndrome LEXMATCH -MONDO:0009821 lethal osteosclerotic bone dysplasia skos:exactMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal osteosclerotic bone dysplasia LEXMATCH -MONDO:0009822 otoonychoperoneal syndrome skos:exactMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otoonychoperoneal syndrome LEXMATCH -MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 1 LEXMATCH -MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 2 LEXMATCH -MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5-oxoprolinase deficiency LEXMATCH -MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinsonian-pyramidal syndrome LEXMATCH -MONDO:0009832 pancreatic agenesis skos:exactMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital pancreatic agenesis LEXMATCH -MONDO:0009832 pancreatic agenesis skos:exactMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial agenesis of the pancreas LEXMATCH -MONDO:0009832 pancreatic agenesis skos:exactMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial pancreatic agenesis LEXMATCH -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shwachman-diamond syndrome LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute inclusion body encephalitis LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute sclerosing panencephalitis LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym van bogaert disease LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym van bogaert encephalitis LEXMATCH -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subacute sclerosing panencephalitis LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:exactMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus papilloma LEXMATCH -MONDO:0009837 choroid plexus papilloma skos:exactMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus papilloma LEXMATCH -MONDO:0009838 Parana hard-skin syndrome skos:exactMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard skin syndrome, parana type LEXMATCH -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:exactMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-parkinsonism syndrome LEXMATCH -MONDO:0009841 PEHO syndrome skos:exactMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peho syndrome LEXMATCH -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pelizaeus-merzbacher-like disease due to aimp1 mutation LEXMATCH -MONDO:0009845 pelviscapular dysplasia skos:exactMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelviscapular dysplasia LEXMATCH -MONDO:0009846 pentosuria skos:exactMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentosuria LEXMATCH -MONDO:0009848 dissecting cellulitis of the scalp skos:exactMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissecting cellulitis of the scalp LEXMATCH -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperimmunoglobulinemia d with periodic fever LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital pernicious anemia LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric intrinsic factor deficiency LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency LEXMATCH -MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital intrinsic factor deficiency LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial megaloblastic anemia LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym selective cobalamin malabsorption with proteinuria LEXMATCH -MONDO:0009853 Imerslund-Grasbeck syndrome skos:exactMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label imerslund-gräsbeck syndrome LEXMATCH -MONDO:0009856 Peters plus syndrome skos:exactMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peters plus syndrome LEXMATCH -MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent müllerian derivatives LEXMATCH -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:exactMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer-palm-teller syndrome LEXMATCH -MONDO:0009859 PHAVER syndrome skos:exactMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phaver syndrome LEXMATCH -MONDO:0009861 phenylketonuria skos:exactMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phenylketonuria LEXMATCH -MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropteridine reductase deficiency LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency LEXMATCH -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 6-pyruvoyl-tetrahydropterin synthase deficiency LEXMATCH -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to phosphoglycerate mutase deficiency LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal congenital hypertrophic cardiomyopathy due to glycogenosis LEXMATCH -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal congenital hypertrophic cardiomyopathy due to gsd LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 9b LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixb LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to liver and muscle phosphorylase kinase deficiency LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9b LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixb LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to liver and muscle phosphorylase kinase deficiency LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9b LEXMATCH -MONDO:0009868 glycogen storage disease IXb skos:exactMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixb LEXMATCH -MONDO:0009869 isolated Pierre-Robin syndrome skos:exactMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated pierre robin sequence LEXMATCH -MONDO:0009870 pili torti skos:exactMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti LEXMATCH -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:exactMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti-developmental delay-neurological abnormalities syndrome LEXMATCH -MONDO:0009872 Bjornstad syndrome skos:exactMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deafness-pili torti-hypogonadism syndrome LEXMATCH -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:exactMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilodental dysplasia-refractive errors syndrome LEXMATCH -MONDO:0009874 Rabson-Mendenhall syndrome skos:exactMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabson-mendenhall syndrome LEXMATCH -MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ia LEXMATCH -MONDO:0009877 Laron syndrome skos:exactMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laron syndrome LEXMATCH -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:exactMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to growth hormone qualitative anomaly LEXMATCH -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:exactMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-pituitary and cerebellar defects-small sella turcica syndrome LEXMATCH -MONDO:0009885 Scott syndrome skos:exactMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scott syndrome LEXMATCH -MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia LEXMATCH -MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive polycystic kidney disease LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired primary erythrocytosis LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osler-vaquez disease LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycythemia rubra vera LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vaquez disease LEXMATCH -MONDO:0009891 acquired polycythemia vera skos:exactMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polycythemia vera LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:exactMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chuvash polycythemia LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:exactMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von hippel-lindau-dependent polycythemia LEXMATCH -MONDO:0009892 Chuvash polycythemia skos:exactMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chuvash polycythemia LEXMATCH -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:exactMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly-dental and vertebral anomalies syndrome LEXMATCH -MONDO:0009897 adult polyglucosan body disease skos:exactMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult polyglucosan body disease LEXMATCH -MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:exactMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polysyndactyly-cardiac malformation syndrome LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive popliteal pterygium syndrome LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lethal popliteal pterygium syndrome LEXMATCH -MONDO:0009901 Bartsocas-Papas syndrome 1 skos:exactMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartsocas-papas syndrome LEXMATCH -MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym günther disease LEXMATCH -MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial acrofacial dysostosis LEXMATCH -MONDO:0009904 Gitelman syndrome skos:exactMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman syndrome LEXMATCH -MONDO:0009905 urban-Rogers-Meyer syndrome skos:exactMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urban-rogers-meyer syndrome LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to dehydratase deficiency LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency LEXMATCH -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia with primapterinuria LEXMATCH -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-rautenstrauch syndrome LEXMATCH -MONDO:0009914 pseudodiastrophic dysplasia skos:exactMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudodiastrophic dysplasia LEXMATCH -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:exactMatch Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx disorder of sex development-skeletal anomalies syndrome LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency LEXMATCH -MONDO:0009920 Acrootoocular syndrome skos:exactMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrootoocular syndrome LEXMATCH -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:exactMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-postaxial polydactyly syndrome LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to 5-alpha-reductase 2 deficiency LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudovaginal perineoscrotal hypospadias LEXMATCH -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudovitamin d-deficient rickets LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vddr-i LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d dependent rickets type i LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d-dependency type i LEXMATCH -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocalcemic vitamin d-dependent rickets LEXMATCH -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gronblad-strandberg-touraine syndrome LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive multiple pterygium syndrome LEXMATCH -MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary alveolar microlithiasis LEXMATCH -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:exactMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal acute respiratory distress due to sp-b deficiency LEXMATCH -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary atresia-intact ventricular septum syndrome LEXMATCH -MONDO:0009933 congenital pulmonary lymphangiectasia skos:exactMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary lymphangiectasia LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary vessels LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alveolar capillary dysplasia LEXMATCH -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis LEXMATCH -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disease LEXMATCH -MONDO:0009940 pycnodysostosis skos:exactMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycnodysostosis LEXMATCH -MONDO:0009942 pyknoachondrogenesis skos:exactMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyknoachondrogenesis LEXMATCH -MONDO:0009943 Pyle disease skos:exactMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyle disease LEXMATCH -MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxine-dependent epilepsy LEXMATCH -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:exactMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to pyrimidine 5' nucleotidase deficiency LEXMATCH -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutathione synthetase deficiency with 5-oxoprolinuria LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with lactic acidosis type ii LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh syndrome due to pc deficiency LEXMATCH -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh syndrome due to pyruvate carboxylase deficiency LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate kinase deficiency of erythrocytes LEXMATCH -MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemolytic anemia due to red cell pyruvate kinase deficiency LEXMATCH -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:exactMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis-developmental delay-hypotonia syndrome LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type ii LEXMATCH -MONDO:0009954 Ramon syndrome skos:exactMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ramon syndrome LEXMATCH -MONDO:0009955 rapadilino syndrome skos:exactMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapadilino syndrome LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult refsum disease LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym classic refsum disease LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 4 LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heredopathia atactica polyneuritiformis LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn 4 LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytanic-coa hydroxylase deficiency LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disease LEXMATCH -MONDO:0009958 adult Refsum disease skos:exactMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult refsum disease LEXMATCH -MONDO:0009963 Ulbright-Hodes syndrome skos:exactMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulbright-hodes syndrome LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conorenal syndrome LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome LEXMATCH -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label saldino-mainzer syndrome LEXMATCH -MONDO:0009965 Perlman syndrome skos:exactMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perlman syndrome LEXMATCH -MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nphp3-related meckel-like syndrome LEXMATCH -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:exactMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis of genetic origin LEXMATCH -MONDO:0009973 reticular dysgenesis skos:exactMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular dysgenesis LEXMATCH -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hlh LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interdigitating cell sarcoma LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticulum cell sarcoma LEXMATCH -MONDO:0009975 reticulum cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reticulum cell sarcoma LEXMATCH -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:exactMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal degeneration-nanophthalmos-glaucoma syndrome LEXMATCH -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular dystrophy of the retinal pigment epithelium LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome LEXMATCH -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:exactMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome LEXMATCH -MONDO:0009990 Revesz syndrome skos:exactMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label revesz syndrome LEXMATCH -MONDO:0009993 embryonal rhabdomyosarcoma skos:exactMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal rhabdomyosarcoma LEXMATCH -MONDO:0009994 alveolar rhabdomyosarcoma skos:exactMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alveolar rhabdomyosarcoma LEXMATCH -MONDO:0009996 rhizomelic syndrome, Urbach type skos:exactMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic syndrome, urbach type LEXMATCH -MONDO:0009998 Richieri Costa-Pereira syndrome skos:exactMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richieri costa-pereira syndrome LEXMATCH -MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive robinow syndrome LEXMATCH -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:exactMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-blindness syndrome LEXMATCH -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome LEXMATCH -MONDO:0010004 EEC syndrome skos:exactMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eec syndrome LEXMATCH -MONDO:0010005 saccharopinuria skos:exactMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label saccharopinuria LEXMATCH -MONDO:0010006 Sandhoff disease skos:exactMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease LEXMATCH -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:exactMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microbrachycephaly-ptosis-cleft lip syndrome LEXMATCH -MONDO:0010008 sarcosinemia skos:exactMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcosinemia LEXMATCH -MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schinzel-giedion syndrome LEXMATCH -MONDO:0010011 schizencephaly skos:exactMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizencephaly LEXMATCH -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 2 LEXMATCH -MONDO:0010013 schneckenbecken dysplasia skos:exactMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schneckenbecken dysplasia LEXMATCH -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:exactMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniometadiaphyseal dysplasia, wormian bone type LEXMATCH -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berardinelli-seip syndrome LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to zap70 deficiency LEXMATCH -MONDO:0010024 Beemer-Langer syndrome skos:exactMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short rib-polydactyly syndrome type 4 LEXMATCH -MONDO:0010026 SHORT syndrome skos:exactMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short syndrome LEXMATCH -MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label free sialic acid storage disease, infantile form LEXMATCH -MONDO:0010028 sialuria skos:exactMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialuria LEXMATCH -MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complete situs inversus LEXMATCH -MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complete situs inversus viscerum LEXMATCH -MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs inversus LEXMATCH -MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label situs inversus totalis LEXMATCH -MONDO:0010029 situs inversus skos:exactMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym situs inversus LEXMATCH -MONDO:0010030 Sjogren syndrome skos:exactMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary sjögren-gougerot syndrome LEXMATCH -MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatty acid alcohol oxidoreductase deficiency LEXMATCH -MONDO:0010033 generalized peeling skin syndrome skos:exactMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized peeling skin syndrome LEXMATCH -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-lemli-opitz syndrome LEXMATCH -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay due to insulin-like growth factor i resistance LEXMATCH -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:exactMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart defect-round face-developmental delay syndrome LEXMATCH -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 6 LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver syndrome LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia-amyotrophy of hands and feet LEXMATCH -MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 17 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary spastic paraparesis type 15 LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kjellin syndrome LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia-retinal degeneration syndrome LEXMATCH -MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 15 LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lison syndrome LEXMATCH -MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome LEXMATCH -MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 5a LEXMATCH -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:exactMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-glaucoma-intellectual disability syndrome LEXMATCH -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:exactMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 4 LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type iv LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-iv LEXMATCH -MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy, adult form LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohaha syndrome LEXMATCH -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 3 LEXMATCH -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome LEXMATCH -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:exactMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia-dysmorphism syndrome LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym der kaloustian-jarudi-khoury syndrome LEXMATCH -MONDO:0010063 corneal-cerebellar syndrome skos:exactMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar degeneration-corneal dystrophy syndrome LEXMATCH -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:exactMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia-corneal dystrophy syndrome LEXMATCH -MONDO:0010066 familial isolated congenital asplenia skos:exactMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated congenital asplenia LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, sponastrime type LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sponastrime dysplasia LEXMATCH -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia, sponastrime type LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda, kohn type LEXMATCH -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, beighton type LEXMATCH -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:exactMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, irapa type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome LEXMATCH -MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloperipheral dysplasia-short ulna syndrome LEXMATCH -MONDO:0010079 Canavan disease skos:exactMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label canavan disease LEXMATCH -MONDO:0010080 familial infantile bilateral striatal necrosis skos:exactMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial infantile bilateral striatal necrosis LEXMATCH -MONDO:0010082 subaortic stenosis-short stature syndrome skos:exactMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subaortic stenosis-short stature syndrome LEXMATCH -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label succinic semialdehyde dehydrogenase deficiency LEXMATCH -MONDO:0010085 Schilder disease skos:exactMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schilder disease LEXMATCH -MONDO:0010087 Sugarman brachydactyly skos:exactMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sugarman brachydactyly LEXMATCH -MONDO:0010088 mucosulfatidosis skos:exactMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile sulfatidosis, austin type LEXMATCH -MONDO:0010088 mucosulfatidosis skos:exactMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucosulfatidosis LEXMATCH -MONDO:0010088 mucosulfatidosis skos:exactMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucosulfatidosis LEXMATCH -MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sulfite oxidase deficiency LEXMATCH -MONDO:0010090 Summitt syndrome skos:exactMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label summitt syndrome LEXMATCH -MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label crisponi syndrome LEXMATCH -MONDO:0010092 Filippi syndrome skos:exactMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filippi syndrome LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synspondylism LEXMATCH -MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondylocarpotarsal synostosis LEXMATCH -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-tapetoretinal degeneration syndrome LEXMATCH -MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hexosaminidase activator deficiency LEXMATCH -MONDO:0010100 Tay-Sachs disease skos:exactMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease LEXMATCH -MONDO:0010101 Teebi-Shaltout syndrome skos:exactMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi-shaltout syndrome LEXMATCH -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:exactMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:exactMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular germ cell tumor LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:exactMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germ cell tumor of testis LEXMATCH -MONDO:0010108 testicular germ cell tumor skos:exactMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular germ cell tumor LEXMATCH -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia-multiple malformations syndrome LEXMATCH -MONDO:0010111 odontotrichomelic syndrome skos:exactMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontotrichomelic syndrome LEXMATCH -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:exactMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic dysplasia-hydrocephalus syndrome LEXMATCH -MONDO:0010116 thoracomelic dysplasia skos:exactMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracomelic dysplasia LEXMATCH -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia-absent radius syndrome LEXMATCH -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital thrombotic thrombocytopenic purpura LEXMATCH -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:exactMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent thumb-short stature-immunodeficiency syndrome LEXMATCH -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:exactMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb defect-eye and ear abnormalities syndrome LEXMATCH -MONDO:0010128 thyrocerebrorenal syndrome skos:exactMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrocerebrorenal syndrome LEXMATCH -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:exactMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic-renal-anal-lung dysplasia LEXMATCH -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropyrimidine dehydrogenase deficiency LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroid dyshormonogenesis LEXMATCH -MONDO:0010134 Pendred syndrome skos:exactMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pendred syndrome LEXMATCH -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated thyroid-stimulating hormone deficiency LEXMATCH -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:exactMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated thyrotropin-releasing hormone deficiency LEXMATCH -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothyroidism due to tsh receptor mutations LEXMATCH -MONDO:0010144 tibial hemimelia skos:exactMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial hemimelia LEXMATCH -MONDO:0010146 Kerion celsi skos:exactMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kerion celsi LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital tracheobronchomegaly LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic tracheobronchomegaly LEXMATCH -MONDO:0010148 Mounier-Kuhn syndrome skos:exactMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tracheobronchomegaly LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:exactMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited deficiency of transcobalamin LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:exactMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transcobalamin ii deficiency LEXMATCH -MONDO:0010149 transcobalamin II deficiency skos:exactMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transcobalamin ii deficiency LEXMATCH -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomegaly-retina pigmentary degeneration-dwarfism syndrome LEXMATCH -MONDO:0010153 trichoodontoonychial dysplasia skos:exactMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichoodontoonychial dysplasia LEXMATCH -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:exactMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-bifid nose-acral anomalies syndrome LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neutral lipid storage disease with ichthyosis LEXMATCH -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dorfman-chanarin disease LEXMATCH -MONDO:0010156 Troyer syndrome skos:exactMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood-onset spastic paraparesis-distal muscle wasting syndrome LEXMATCH -MONDO:0010156 Troyer syndrome skos:exactMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym troyer syndrome LEXMATCH -MONDO:0010156 Troyer syndrome skos:exactMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 20 LEXMATCH -MONDO:0010156 Troyer syndrome skos:exactMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym troyer syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome LEXMATCH -MONDO:0010159 mismatch repair cancer syndrome 1 skos:exactMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constitutional mismatch repair deficiency syndrome LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris-corneal dystrophy syndrome LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculocutaneous tyrosinemia LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richner-hanhart syndrome LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to tat deficiency LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to tyrosine aminotransferase deficiency LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia type ii LEXMATCH -MONDO:0010160 tyrosinemia type II skos:exactMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosinemia type ii LEXMATCH -MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fah deficiency LEXMATCH -MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fumarylacetoacetase deficiency LEXMATCH -MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fumarylacetoacetate hydrolase deficiency LEXMATCH -MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal tyrosinemia LEXMATCH -MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia type i LEXMATCH -MONDO:0010161 tyrosinemia type I skos:exactMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosinemia type i LEXMATCH -MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency LEXMATCH -MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency LEXMATCH -MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to hpd deficiency LEXMATCH -MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia type iii LEXMATCH -MONDO:0010162 tyrosinemia type III skos:exactMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosinemia type iii LEXMATCH -MONDO:0010164 phocomelia, Schinzel type skos:exactMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phocomelia, schinzel type LEXMATCH -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:exactMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulna hypoplasia-intellectual disability syndrome LEXMATCH -MONDO:0010167 urocanic aciduria skos:exactMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urocanic aciduria LEXMATCH -MONDO:0010168 Usher syndrome type 1 skos:exactMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 1 LEXMATCH -MONDO:0010172 VACTERL with hydrocephalus skos:exactMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vacterl with hydrocephalus LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of uterus and vagina LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 1 LEXMATCH -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rokitansky sequence LEXMATCH -MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 6 LEXMATCH -MONDO:0010177 vascular hyalinosis skos:exactMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rambaud-gallian syndrome LEXMATCH -MONDO:0010177 vascular hyalinosis skos:exactMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rambaud-gallian-touchard syndrome LEXMATCH -MONDO:0010177 vascular hyalinosis skos:exactMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome LEXMATCH -MONDO:0010179 isolated right ventricular hypoplasia skos:exactMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated right ventricular hypoplasia LEXMATCH -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spondylocostal dysostosis LEXMATCH -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:exactMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculogastrointestinal muscular dystrophy LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cblf defect LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cobalamin f defect LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lysosomal membrane cobalamin transporter deficiency LEXMATCH -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblf LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cblc defect LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cobalamin c defect LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc LEXMATCH -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblc LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cbld defect LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cobalamin d defect LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld LEXMATCH -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cbld LEXMATCH -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary combined deficiency of factors ii, vii, ix and x LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with isolated vitamin e deficiency LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial isolated vitamin e deficiency LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich-like ataxia LEXMATCH -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated vitamin e deficiency LEXMATCH -MONDO:0010191 von Willebrand disease 3 skos:exactMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease type 3 LEXMATCH -MONDO:0010193 Weaver syndrome skos:exactMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weaver syndrome LEXMATCH -MONDO:0010196 Werner syndrome skos:exactMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label werner syndrome LEXMATCH -MONDO:0010199 white forelock with malformations skos:exactMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white forelock with malformations LEXMATCH -MONDO:0010200 Wilson disease skos:exactMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson disease LEXMATCH -MONDO:0010203 intellectual disability, Wolff type skos:exactMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability, wolff type LEXMATCH -MONDO:0010204 lysosomal acid lipase deficiency skos:exactMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid lipase deficiency LEXMATCH -MONDO:0010208 wrinkly skin syndrome skos:exactMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wrinkly skin syndrome LEXMATCH -MONDO:0010209 xanthinuria type I skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthinuria type i LEXMATCH -MONDO:0010220 Young syndrome skos:exactMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label young syndrome LEXMATCH -MONDO:0010221 CHIME syndrome skos:exactMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chime syndrome LEXMATCH -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-abnormal genitalia syndrome LEXMATCH -MONDO:0010225 Dent disease type 1 skos:exactMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease type 1 LEXMATCH -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-psychosis-macroorchidism syndrome LEXMATCH -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:exactMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-plagiocephaly syndrome LEXMATCH -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 1 due to doublecortin gene mutation LEXMATCH -MONDO:0010243 X-linked immunoneurologic disorder skos:exactMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunoneurologic disorder LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juberg-hellman syndrome LEXMATCH -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female restricted epilepsy with intellectual disability LEXMATCH -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebral adrenoleukodystrophy LEXMATCH -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spondyloepimetaphyseal dysplasia LEXMATCH -MONDO:0010250 intellectual disability, X-linked 49 skos:exactMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clcn4-related x-linked intellectual disability syndrome LEXMATCH -MONDO:0010258 MEHMO syndrome skos:exactMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mehmo syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oculofaciocardiodental syndrome LEXMATCH -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia LEXMATCH -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked adrenal hypoplasia congenita LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lissencephaly with abnormal genitalia LEXMATCH -MONDO:0010269 Coats disease skos:exactMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coats disease LEXMATCH -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic x-linked intellectual disability 7 LEXMATCH -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:exactMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myotubular myopathy-abnormal genitalia syndrome LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h-smd LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypomyelination-spondyloepimetaphyseal dysplasia syndrome LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukoencephalopathy-metaphyseal chondrodysplasia syndrome LEXMATCH -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:exactMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukoencephalopathy-semd syndrome LEXMATCH -MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic x-linked intellectual disability type 11 LEXMATCH -MONDO:0010278 Christianson syndrome skos:exactMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label christianson syndrome LEXMATCH -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label terminal osseous dysplasia-pigmentary defects syndrome LEXMATCH -MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym danon disease LEXMATCH -MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to lamp-2 deficiency LEXMATCH -MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to lamp-2 deficiency LEXMATCH -MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lysosomal glycogen storage disease with normal acid maltase activity LEXMATCH -MONDO:0010281 Danon disease skos:exactMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym danon disease LEXMATCH -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mecp2 duplication syndrome LEXMATCH -MONDO:0010284 Armfield syndrome skos:exactMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym armfield syndrome LEXMATCH -MONDO:0010284 Armfield syndrome skos:exactMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability, armfield type LEXMATCH -MONDO:0010284 Armfield syndrome skos:exactMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym armfield syndrome LEXMATCH -MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spastic paraplegia type 16 LEXMATCH -MONDO:0010288 adrenomyodystrophy skos:exactMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyodystrophy LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anhidrotic ectodermal dysplasia with immunodeficiency LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eda-id LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hed-id LEXMATCH -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypohidrotic ectodermal dysplasia with immunodeficiency LEXMATCH -MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe congenital neutropenia LEXMATCH -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:exactMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome LEXMATCH -MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoxanthine guanine phosphoribosyltransferase partial deficiency LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:exactMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym creatine transporter deficiency LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:exactMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slc6a8 deficiency LEXMATCH -MONDO:0010305 creatine transporter deficiency skos:exactMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym creatine transporter deficiency LEXMATCH -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cabezas type LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis generalisata with striations LEXMATCH -MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-unger syndrome LEXMATCH -MONDO:0010311 Becker muscular dystrophy skos:exactMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label becker muscular dystrophy LEXMATCH -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to gamma chain deficiency LEXMATCH -MONDO:0010323 Atkin-Flaitz syndrome skos:exactMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atkin-flaitz syndrome LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stocco dos santos type LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric aciduria LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hsd10 deficiency LEXMATCH -MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mhbd deficiency LEXMATCH -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-thalassemia-myelodysplastic syndrome LEXMATCH -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:exactMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cubitus valgus-dysmorphism syndrome LEXMATCH -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome LEXMATCH -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 8 LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome, edwards type LEXMATCH -MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome, edwards type LEXMATCH -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cerebellar hypoplasia syndrome LEXMATCH -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked distal spinal muscular atrophy type 3 LEXMATCH -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked epilepsy-learning disabilities-behavior disorders syndrome LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym martin-probst syndrome LEXMATCH -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked deafness-intellectual disability syndrome syndrome LEXMATCH -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allan-herndon-dudley syndrome LEXMATCH -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic syndrome of inappropriate antidiuresis LEXMATCH -MONDO:0010359 Dent disease type 2 skos:exactMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease type 2 LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 9d LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixd LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to muscle phosphorylase kinase deficiency LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9d LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixd LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to muscle phosphorylase kinase deficiency LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9d LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixd LEXMATCH -MONDO:0010362 glycogen storage disease IXd skos:exactMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease due to muscle phosphorylase kinase deficiency LEXMATCH -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:exactMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-retinitis pigmentosa syndrome LEXMATCH -MONDO:0010367 SHOX-related short stature skos:exactMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shox-related short stature LEXMATCH -MONDO:0010371 Aland island eye disease skos:exactMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forsius-eriksson syndrome LEXMATCH -MONDO:0010371 Aland island eye disease skos:exactMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forsius-eriksson type ocular albinism LEXMATCH -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperekplexia-epilepsy syndrome LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hereditary sensory and autonomic neuropathy with hearing loss LEXMATCH -MONDO:0010379 Brunner syndrome skos:exactMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brunner syndrome LEXMATCH -MONDO:0010379 Brunner syndrome skos:exactMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monoamine oxidase a deficiency LEXMATCH -MONDO:0010379 Brunner syndrome skos:exactMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brunner syndrome LEXMATCH -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fragile x-associated tremor/ataxia syndrome LEXMATCH -MONDO:0010383 fragile X syndrome skos:exactMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fragile x syndrome LEXMATCH -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:exactMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lymphoproliferative disease due to xiap deficiency LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency LEXMATCH -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism with late-onset sensorineural deafness LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to phosphoglycerate kinase 1 deficiency LEXMATCH -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phosphoribosylpyrophosphate synthetase superactivity LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neonatal-onset encephalopathy with microcephaly LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex glycerol kinase deficiency LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(x)(p21) LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xp21 contiguous gene deletion syndrome LEXMATCH -MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xp21 microdeletion syndrome LEXMATCH -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:exactMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked scapuloperoneal muscular dystrophy LEXMATCH -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myopathy with postural muscle atrophy LEXMATCH -MONDO:0010403 albinism-hearing loss syndrome skos:exactMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym albinism-hearing loss syndrome LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked non progressive cerebellar ataxia LEXMATCH -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-telecanthus-anogenital and renal malformations syndrome LEXMATCH -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:exactMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-craniofacioskeletal syndrome LEXMATCH -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome LEXMATCH -MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spastic paraplegia type 34 LEXMATCH -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked erythropoietic protoporphyria LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bruton type agammaglobulinemia LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btk-deficiency LEXMATCH -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked agammaglobulinemia LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lisch epithelial corneal dystrophy LEXMATCH -MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked endothelial corneal dystrophy LEXMATCH -MONDO:0010434 synovial sarcoma skos:exactMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synovial sarcoma LEXMATCH -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe x-linked mitochondrial encephalomyopathy LEXMATCH -MONDO:0010441 CK syndrome skos:exactMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ck syndrome LEXMATCH -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:exactMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cone dysfunction syndrome with myopia LEXMATCH -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome LEXMATCH -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia LEXMATCH -MONDO:0010457 Ogden syndrome skos:exactMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome LEXMATCH -MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-alacrima-achalasia syndrome LEXMATCH -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch Orphanet:163956 X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked intellectual disability-nail dystrophy-seizures syndrome LEXMATCH -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant chondrodysplasia, chassaing-lacombe type LEXMATCH -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:exactMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked intellectual disability, kroes type LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcahs type 2 LEXMATCH -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 2 LEXMATCH -MONDO:0010467 Xq27.3q28 duplication syndrome skos:exactMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq27.3q28 duplication syndrome LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type is LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-is LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1s LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type is LEXMATCH -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alg13-cdg LEXMATCH -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome LEXMATCH -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked central congenital hypothyroidism with late-onset testicular enlargement LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 5 LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood LEXMATCH -MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label beta-propeller protein-associated neurodegeneration LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, maat-kievit-brunner type LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, mkb type LEXMATCH -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:exactMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked ohdo syndrome LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iim LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iim LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2m LEXMATCH -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iim LEXMATCH -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 6 LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym class i g6pd deficiency LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe hemolytic anemia due to g6pd deficiency LEXMATCH -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:exactMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label class i glucose-6-phosphate dehydrogenase deficiency LEXMATCH -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked parkinsonism-spasticity syndrome LEXMATCH -MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cantagrel type LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iy LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iy LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iy LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iy LEXMATCH -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-short stature-overweight syndrome LEXMATCH -MONDO:0010498 MEND syndrome skos:exactMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mend syndrome LEXMATCH -MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrocephaly-intellectual disability-left ventricular non compaction syndrome LEXMATCH -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:exactMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-balding-patella luxation-acromicria syndrome LEXMATCH -MONDO:0010507 Xq25 microduplication syndrome skos:exactMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch Orphanet:504530 Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to moesin deficiency LEXMATCH -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome LEXMATCH -MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meester-loeys syndrome LEXMATCH -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome LEXMATCH -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr-x syndrome LEXMATCH -MONDO:0010520 X-linked Alport syndrome skos:exactMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked alport syndrome LEXMATCH -MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked reticulate pigmentary disorder LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagon-bird-detter syndrome LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked sideroblastic anemia with ataxia LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlsa-a LEXMATCH -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked sideroblastic anemia with ataxia LEXMATCH -MONDO:0010526 Fabry disease skos:exactMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fabry disease LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 LEXMATCH -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:exactMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures-ectodermal dysplasia-cleft lip/palate syndrome LEXMATCH -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset x-linked spinal muscular atrophy LEXMATCH -MONDO:0010533 Arts syndrome skos:exactMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arts syndrome LEXMATCH -MONDO:0010533 Arts syndrome skos:exactMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal ataxia with deafness and optic atrophy LEXMATCH -MONDO:0010533 Arts syndrome skos:exactMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arts syndrome LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular atrophoderma and basal cell carcinomas LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bazex-dupré-christol syndrome LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrokeratosis of bazex LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrokeratosis paraneoplastica LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrokeratosis paraneoplastica of bazex LEXMATCH -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:exactMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bazex syndrome LEXMATCH -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borjeson-forssman-lehmann syndrome LEXMATCH -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononen-karnes-senac syndrome LEXMATCH -MONDO:0010539 X-linked mandibulofacial dysostosis skos:exactMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mandibulofacial dysostosis LEXMATCH -MONDO:0010541 X-linked calvarial hyperostosis skos:exactMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked calvarial hyperostosis LEXMATCH -MONDO:0010543 Barth syndrome skos:exactMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label barth syndrome LEXMATCH -MONDO:0010545 Nance-Horan syndrome skos:exactMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nance-horan syndrome LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked progressive cerebellar ataxia LEXMATCH -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 1 LEXMATCH -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 2 LEXMATCH -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 3 LEXMATCH -MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abruzzo-erickson syndrome LEXMATCH -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brachytelephalangic chondrodysplasia punctata LEXMATCH -MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophia calcificans congenita LEXMATCH -MONDO:0010557 choroideremia skos:exactMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroideremia LEXMATCH -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:exactMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ayazi syndrome LEXMATCH -MONDO:0010559 MASA syndrome skos:exactMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label masa syndrome LEXMATCH -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked cleft palate and ankyloglossia LEXMATCH -MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-lowry syndrome LEXMATCH -MONDO:0010562 colonic atresia skos:exactMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colonic atresia LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical x-linked achromatopsia LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blue cone monochromacy LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym color blindness, blue monocone monochromatic type LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym s cone monochromacy LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym s cone monochromatism LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked incomplete achromatopsia LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blue cone monochromatism LEXMATCH -MONDO:0010563 blue cone monochromacy skos:exactMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blue cone monochromacy LEXMATCH -MONDO:0010568 Aicardi syndrome skos:exactMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi syndrome LEXMATCH -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:exactMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked complicated corpus callosum dysgenesis LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:exactMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniofrontonasal syndrome LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:exactMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofrontonasal dysplasia LEXMATCH -MONDO:0010570 craniofrontonasal syndrome skos:exactMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym craniofrontonasal syndrome LEXMATCH -MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome type 2 LEXMATCH -MONDO:0010572 occipital horn syndrome skos:exactMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital horn syndrome LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pettigrew syndrome LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome LEXMATCH -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome LEXMATCH -MONDO:0010575 deafness-hypogonadism syndrome skos:exactMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-hypogonadism syndrome LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:exactMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ddon syndrome LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:exactMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deafness-dystonia-optic neuronopathy syndrome LEXMATCH -MONDO:0010578 deafness dystonia syndrome skos:exactMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mohr-tranebjaerg syndrome LEXMATCH -MONDO:0010579 X-linked corneal dermoid skos:exactMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked corneal dermoid LEXMATCH -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked hypohidrotic ectodermal dysplasia LEXMATCH -MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:exactMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked ehlers-danlos syndrome LEXMATCH -MONDO:0010591 fingerprint body myopathy skos:exactMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fingerprint body myopathy LEXMATCH -MONDO:0010592 focal dermal hypoplasia skos:exactMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal dermal hypoplasia LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 9a LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixa LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9a LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixa LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a LEXMATCH -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa LEXMATCH -MONDO:0010602 hemophilia A skos:exactMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia a LEXMATCH -MONDO:0010604 hemophilia B skos:exactMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b LEXMATCH -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:exactMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morse-rawnsley-sargent syndrome LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bickers-adams syndrome LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked acqueductal stenosis LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hsas LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hydrocephalus LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hydrocephalus with stenosis of aqueduct of sylvius LEXMATCH -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:exactMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hydrocephalus with stenosis of the aqueduct of sylvius LEXMATCH -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:exactMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephaly-cerebellar agenesis syndrome LEXMATCH -MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch Orphanet:308993 Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycerol kinase deficiency LEXMATCH -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:exactMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked congenital generalized hypertrichosis LEXMATCH -MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type iii LEXMATCH -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:exactMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome LEXMATCH -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hypoparathyroidism due to agenesis of parathyroid gland LEXMATCH -MONDO:0010621 CHILD syndrome skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label child syndrome LEXMATCH -MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive x-linked ichthyosis LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-igm syndrome due to cd40 ligand deficiency LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-igm syndrome due to cd40l deficiency LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-igm syndrome type 1 LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked hyper-igm syndrome LEXMATCH -MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyper-igm syndrome type 1 LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disease LEXMATCH -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome LEXMATCH -MONDO:0010631 incontinentia pigmenti skos:exactMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti LEXMATCH -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:exactMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis-dwarfism-cerebral atrophy syndrome LEXMATCH -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:exactMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis-intellectual disability syndrome LEXMATCH -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:exactMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xq22.3 microdeletion syndrome LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lowe disease LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lowe oculo-cerebro-renal syndrome LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lowe syndrome LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency LEXMATCH -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oculocerebrorenal syndrome of lowe LEXMATCH -MONDO:0010649 isolated congenital megalocornea skos:exactMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital megalocornea LEXMATCH -MONDO:0010650 Melnick-Needles syndrome skos:exactMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melnick-needles syndrome LEXMATCH -MONDO:0010651 Menkes disease skos:exactMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menkes disease LEXMATCH -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:exactMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-seizures-psoriasis syndrome LEXMATCH -MONDO:0010653 Renpenning syndrome skos:exactMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome LEXMATCH -MONDO:0010654 Partington syndrome skos:exactMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partington syndrome LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lujan-fryns syndrome LEXMATCH -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability with marfanoid habitus LEXMATCH -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia with homocystinuria, type cblx LEXMATCH -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability, wilson type LEXMATCH -MONDO:0010659 FRAXE intellectual disability skos:exactMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraxe intellectual disability LEXMATCH -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe x-linked intellectual disability, gustavson type LEXMATCH -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:exactMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraplegia-intellectual disability-hyperkeratosis syndrome LEXMATCH -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym snyder-robinson syndrome LEXMATCH -MONDO:0010665 Wilson-Turner syndrome skos:exactMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-turner syndrome LEXMATCH -MONDO:0010667 Prieto syndrome skos:exactMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prieto-badia-mulas syndrome LEXMATCH -MONDO:0010667 Prieto syndrome skos:exactMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome LEXMATCH -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:exactMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christian syndrome LEXMATCH -MONDO:0010669 syndactyly type 8 skos:exactMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 8 LEXMATCH -MONDO:0010671 microphthalmia, syndromic 1 skos:exactMatch Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 4 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mls syndrome LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 LEXMATCH -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microphthalmia with linear skin defects syndrome LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2 LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mps with skin involvement LEXMATCH -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch Orphanet:79388 Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucopolysaccharidosis with skin involvement LEXMATCH -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duchenne muscular dystrophy LEXMATCH -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked emery-dreifuss muscular dystrophy LEXMATCH -MONDO:0010683 X-linked centronuclear myopathy skos:exactMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked centronuclear myopathy LEXMATCH -MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myopathy with excessive autophagy LEXMATCH -MONDO:0010686 N syndrome skos:exactMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label n syndrome LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cowchock syndrome LEXMATCH -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 4 LEXMATCH -MONDO:0010691 Norrie disease skos:exactMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label norrie disease LEXMATCH -MONDO:0010698 optic atrophy 2 skos:exactMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-leber type optic atrophy with early-onset LEXMATCH -MONDO:0010698 optic atrophy 2 skos:exactMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy type 2 LEXMATCH -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 5 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:exactMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 1 LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:exactMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillon-léage-psaume syndrome LEXMATCH -MONDO:0010702 orofaciodigital syndrome I skos:exactMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 1 LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oct deficiency LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine carbamoyltransferase deficiency LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otc deficiency LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ornithine transcarbamylase deficiency LEXMATCH -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithine carbamoyltransferase deficiency LEXMATCH -MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome type 1 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:exactMatch Orphanet:642691 Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fragile x-associated primary ovarian insufficiency LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:exactMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallister-w syndrome LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:exactMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label w syndrome LEXMATCH -MONDO:0010708 Pallister-W syndrome skos:exactMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pallister-w syndrome LEXMATCH -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset parkinsonism-intellectual disability syndrome LEXMATCH -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:exactMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierre robin syndrome-faciodigital anomaly syndrome LEXMATCH -MONDO:0010711 TARP syndrome skos:exactMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarp syndrome LEXMATCH -MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease LEXMATCH -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:exactMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lethal multiple pterygium syndrome LEXMATCH -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e1-alpha deficiency LEXMATCH -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:exactMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent radius-anogenital anomalies syndrome LEXMATCH -MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial androgen insensitivity syndrome LEXMATCH -MONDO:0010722 X-linked retinal dysplasia skos:exactMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked retinal dysplasia LEXMATCH -MONDO:0010725 X-linked retinoschisis skos:exactMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked retinoschisis LEXMATCH -MONDO:0010726 Rett syndrome skos:exactMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome LEXMATCH -MONDO:0010728 SCARF syndrome skos:exactMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarf syndrome LEXMATCH -MONDO:0010729 X-linked intellectual disability, Schimke type skos:exactMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, schimke type LEXMATCH -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simpson-golabi-behmel syndrome LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraparesis-deafness syndrome LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic gait type 2 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis type 2 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spastic paraplegia type 2 LEXMATCH -MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 2 LEXMATCH -MONDO:0010735 Kennedy disease skos:exactMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kennedy disease LEXMATCH -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:exactMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, golden type LEXMATCH -MONDO:0010742 pentalogy of Cantrell skos:exactMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentalogy of cantrell LEXMATCH -MONDO:0010743 thrombocytopenia 1 skos:exactMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked thrombocytopenia with normal platelets LEXMATCH -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia-x-linked thrombocytopenia syndrome LEXMATCH -MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dystonia-parkinsonism LEXMATCH -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:exactMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torticollis-keloids-cryptorchidism-renal dysplasia syndrome LEXMATCH -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:exactMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-short stature-developmental delay syndrome LEXMATCH -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:exactMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar hypoplasia-split foot syndrome LEXMATCH -MONDO:0010754 van den Bosch syndrome skos:exactMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van den bosch syndrome LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foot contractures-muscle atrophy-oculomotor apraxia syndrome LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wieacker-wolff syndrome LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-developmental delay-contractures syndrome LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wieacker-wolff syndrome LEXMATCH -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability, miles-carpenter type LEXMATCH -MONDO:0010759 Wildervanck syndrome skos:exactMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wildervanck syndrome LEXMATCH -MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy complete gonadal dysgenesis LEXMATCH -MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma LEXMATCH -MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytoid cardiomyopathy LEXMATCH -MONDO:0010773 mitochondrial myopathy with diabetes skos:exactMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy and diabetes mellitus LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome LEXMATCH -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa-deafness syndrome LEXMATCH -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mitochondrial non-syndromic sensorineural hearing loss LEXMATCH -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:exactMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy with reversible cytochrome c oxidase deficiency LEXMATCH -MONDO:0010785 maternally-inherited diabetes and deafness skos:exactMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternally-inherited diabetes and deafness LEXMATCH -MONDO:0010786 chronic diarrhea with villous atrophy skos:exactMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic diarrhea with villous atrophy LEXMATCH -MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kearns-sayre syndrome LEXMATCH -MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy LEXMATCH -MONDO:0010789 MELAS syndrome skos:exactMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes LEXMATCH -MONDO:0010789 MELAS syndrome skos:exactMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes LEXMATCH -MONDO:0010790 MERRF syndrome skos:exactMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fukuhara syndrome LEXMATCH -MONDO:0010790 MERRF syndrome skos:exactMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus epilepsy associated with ragged-red fibres LEXMATCH -MONDO:0010792 lethal infantile mitochondrial myopathy skos:exactMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal infantile mitochondrial myopathy LEXMATCH -MONDO:0010794 NARP syndrome skos:exactMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narp syndrome LEXMATCH -MONDO:0010797 Pearson syndrome skos:exactMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pearson syndrome LEXMATCH -MONDO:0010801 spondylocamptodactyly syndrome skos:exactMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylocamptodactyly syndrome LEXMATCH -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic hypoplasia-diabetes-congenital heart disease syndrome LEXMATCH -MONDO:0010803 Eiken syndrome skos:exactMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eiken syndrome LEXMATCH -MONDO:0010805 bladder exstrophy skos:exactMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder exstrophy LEXMATCH -MONDO:0010808 fatal familial insomnia skos:exactMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal familial insomnia LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia-disorder of sex development syndrome LEXMATCH -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch Orphanet:1422 Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nivelon-nivelon-mabille syndrome LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysharmonic skeletal maturation-muscular fiber disproportion syndrome LEXMATCH -MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label qazi-markouizos syndrome LEXMATCH -MONDO:0010821 familial developmental dysphasia skos:exactMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial developmental dysphasia LEXMATCH -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 3 LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym verloes-gillerot-fryns syndrome LEXMATCH -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:exactMatch Orphanet:2983 Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disorder of sex development-intellectual disability syndrome LEXMATCH -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:exactMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular defect-blepharophimosis-radial and anal defect syndrome LEXMATCH -MONDO:0010826 childhood absence epilepsy skos:exactMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy LEXMATCH -MONDO:0010829 CARASIL syndrome skos:exactMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maeda syndrome LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:exactMatch Orphanet:1768 Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial caudal dysgenesis LEXMATCH -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:exactMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium colli-intellectual disability-digital anomalies syndrome LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant benign distal spinal muscular atrophy LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital benign spinal muscular atrophy with contractures LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital nonprogressive spinal muscular atrophy LEXMATCH -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant congenital benign spinal muscular atrophy LEXMATCH -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria-intellectual disability-epilepsy syndrome LEXMATCH -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous and mucosal venous malformation LEXMATCH -MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 4 LEXMATCH -MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 5 LEXMATCH -MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 4 facial cleft LEXMATCH -MONDO:0010851 Lowry-MacLean syndrome skos:exactMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowry-maclean syndrome LEXMATCH -MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toriello-lacassie-droste syndrome LEXMATCH -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:exactMatch Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short tarsus-absence of lower eyelashes syndrome LEXMATCH -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:exactMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis LEXMATCH -MONDO:0010857 semantic dementia skos:exactMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia LEXMATCH -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:exactMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-spastic paraplegia-dysmorphism syndrome LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:exactMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoaminopterin syndrome LEXMATCH -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile osteopetrosis with neuroaxonal dysplasia LEXMATCH -MONDO:0010867 PARC syndrome skos:exactMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parc syndrome LEXMATCH -MONDO:0010870 tibial muscular dystrophy skos:exactMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial muscular dystrophy LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease-pyramidal features syndrome LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn 5 LEXMATCH -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary motor and sensory neuropathy type 5 LEXMATCH -MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 6 LEXMATCH -MONDO:0010879 CODAS syndrome skos:exactMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label codas syndrome LEXMATCH -MONDO:0010881 mesomelia-synostoses syndrome skos:exactMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelia-synostoses syndrome LEXMATCH -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:exactMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphalangy-syndactyly-microcephaly syndrome LEXMATCH -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:exactMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum-macrocephaly-dysplastic nails syndrome LEXMATCH -MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q37 microdeletion syndrome LEXMATCH -MONDO:0010887 isolated anterior cervical hypertrichosis skos:exactMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated anterior cervical hypertrichosis LEXMATCH -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:exactMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial dissection-lentiginosis syndrome LEXMATCH -MONDO:0010890 acrocardiofacial syndrome skos:exactMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocardiofacial syndrome LEXMATCH -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:exactMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal hemolytic anemia-genital anomalies syndrome LEXMATCH -MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epilepsy with auditory features LEXMATCH -MONDO:0010901 HEC syndrome skos:exactMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hec syndrome LEXMATCH -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:exactMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, reardon type LEXMATCH -MONDO:0010908 loose anagen syndrome skos:exactMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loose anagen syndrome LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lactotroph adenoma LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary lactotrophic adenoma LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prl-secreting pituitary adenoma LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prloma LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prolactin-secreting pituitary adenoma LEXMATCH -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prolactinoma LEXMATCH -MONDO:0010913 Caroli disease skos:exactMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli disease LEXMATCH -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:exactMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, severe infantile form LEXMATCH -MONDO:0010920 microtia skos:exactMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia LEXMATCH -MONDO:0010921 nasal dermoid cyst skos:exactMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal dermoid cyst LEXMATCH -MONDO:0010922 Satoyoshi syndrome skos:exactMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label satoyoshi syndrome LEXMATCH -MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:exactMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal myopathy with focal depletion of mitochondria LEXMATCH -MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d-2-hydroxyglutaric aciduria LEXMATCH -MONDO:0010925 velo-facial-skeletal syndrome skos:exactMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label velo-facial-skeletal syndrome LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhh type 3 LEXMATCH -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypocalciuric hypercalcemia type 3 LEXMATCH -MONDO:0010930 anophthalmia plus syndrome skos:exactMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia plus syndrome LEXMATCH -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:exactMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive bifocal chorioretinal atrophy LEXMATCH -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:exactMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to jak3 deficiency LEXMATCH -MONDO:0010947 Budd-Chiari syndrome skos:exactMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome LEXMATCH -MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2b LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bonneau-beaumont syndrome LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary hyperferritinemia-cataract syndrome LEXMATCH -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary hyperferritinemia with congenital cataracts LEXMATCH -MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van den ende-gupta syndrome LEXMATCH -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to prohormone convertase i deficiency LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar keratoderma, bothnian type LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label krt1-related diffuse nonepidermolytic keratoderma LEXMATCH -MONDO:0010966 achondrogenesis type IB skos:exactMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achondrogenesis, parenti-fraccaro type LEXMATCH -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:exactMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome LEXMATCH -MONDO:0010977 Brody myopathy skos:exactMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brody myopathy LEXMATCH -MONDO:0010979 Timothy syndrome skos:exactMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome LEXMATCH -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:exactMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent tibia-polydactyly-arachnoid cyst syndrome LEXMATCH -MONDO:0010983 dystonia 9 skos:exactMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym episodic choreoathetosis/spasticity LEXMATCH -MONDO:0010988 aplasia cutis-myopia syndrome skos:exactMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis-myopia syndrome LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-küster-hauser syndrome type 2 LEXMATCH -MONDO:0010993 Harrod syndrome skos:exactMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harrod syndrome LEXMATCH -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1c LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym classic psp syndrome LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richardson syndrome LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steele-richardson-olszewski disease LEXMATCH -MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic progressive supranuclear palsy syndrome LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type id LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type id LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-id LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1d LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type id LEXMATCH -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 6 deficiency LEXMATCH -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:exactMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fallot complex-intellectual disability-growth delay syndrome LEXMATCH -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:exactMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3-metacarpal bone dysplasia syndrome LEXMATCH -MONDO:0011006 hereditary spastic paraplegia 9A skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad-spg9a LEXMATCH -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:exactMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic defect-limb deficiency-skull defect syndrome LEXMATCH -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:exactMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-intestinal malrotation-cardiopathy syndrome LEXMATCH -MONDO:0011010 Matthew-Wood syndrome skos:exactMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label matthew-wood syndrome LEXMATCH -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:exactMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal dysplasia-epilepsy-short stature syndrome LEXMATCH -MONDO:0011012 African iron overload skos:exactMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african iron overload LEXMATCH -MONDO:0011012 African iron overload skos:exactMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bantu siderosis LEXMATCH -MONDO:0011012 African iron overload skos:exactMatch Orphanet:139507 Dietary iron overload disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african iron overload LEXMATCH -MONDO:0011014 pleuropulmonary blastoma skos:exactMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma LEXMATCH -MONDO:0011017 Naxos disease skos:exactMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label naxos disease LEXMATCH -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia-amelogenesis imperfecta syndrome LEXMATCH -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:exactMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome LEXMATCH -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:exactMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-oculocutaneous hypopigmentation syndrome LEXMATCH -MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label potocki-shaffer syndrome LEXMATCH -MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary mixed polyposis syndrome LEXMATCH -MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cayman ataxia LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency LEXMATCH -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2f LEXMATCH -MONDO:0011034 odontomicronychial dysplasia skos:exactMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontomicronychial dysplasia LEXMATCH -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis-noonan syndrome LEXMATCH -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:exactMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly-cerebellar hypoplasia-internal malformations syndrome LEXMATCH -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome LEXMATCH -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:exactMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia with natal teeth, turnpenny type LEXMATCH -MONDO:0011045 MMEP syndrome skos:exactMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mmep syndrome LEXMATCH -MONDO:0011046 short stature, Brussels type skos:exactMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature, brussels type LEXMATCH -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:exactMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-epiphyseal dysplasia-short stature syndrome LEXMATCH -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:exactMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy-microcephaly-skeletal dysplasia syndrome LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephaly-deafness-cataract-intellectual disability syndrome LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fine-lubinsky syndrome LEXMATCH -MONDO:0011049 Fine-Lubinsky syndrome skos:exactMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fine-lubinsky syndrome LEXMATCH -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:exactMatch Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cardiac defect-lung malsegmentation syndrome LEXMATCH -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type skos:exactMatch Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysplastic cortical hyperostosis, al-gazali type LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-sparse hair-brachydactyly syndrome LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nicolaides-baraitser syndrome LEXMATCH -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual disability-sparse hair-brachydactyly syndrome LEXMATCH -MONDO:0011054 autosomal recessive amelia skos:exactMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive amelia LEXMATCH -MONDO:0011055 distal monosomy 10p skos:exactMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10pter LEXMATCH -MONDO:0011055 distal monosomy 10p skos:exactMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 10p LEXMATCH -MONDO:0011055 distal monosomy 10p skos:exactMatch Orphanet:1580 Distal deletion 10p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 10p LEXMATCH -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:exactMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-craniosynostosis syndrome LEXMATCH -MONDO:0011060 early-onset non-syndromic cataract skos:exactMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset non-syndromic cataract LEXMATCH -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:exactMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly cerebellar dysgenesis LEXMATCH -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:exactMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrotic ectodermal dysplasia, christianson-fourie type LEXMATCH -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b1 LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmin-related myofibrillar myopathy LEXMATCH -MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label desminopathy LEXMATCH -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:exactMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic dysplasia, patterson-lowry type LEXMATCH -MONDO:0011080 progressive deafness with stapes fixation skos:exactMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive deafness with stapes fixation LEXMATCH -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:exactMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dislocation of the hip-dysmorphism syndrome LEXMATCH -MONDO:0011082 oculoauriculofrontonasal syndrome skos:exactMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoauriculofrontonasal syndrome LEXMATCH -MONDO:0011083 trichodental syndrome skos:exactMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodental syndrome LEXMATCH -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4d LEXMATCH -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to complete rag1/2 deficiency LEXMATCH -MONDO:0011090 isolated hereditary congenital facial paralysis skos:exactMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hereditary congenital facial paralysis LEXMATCH -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2d LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 9 LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type ix LEXMATCH -MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 9 LEXMATCH -MONDO:0011096 autosomal agammaglobulinemia skos:exactMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal agammaglobulinemia LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:exactMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym athabascan brainstem dysgenesis syndrome LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:exactMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym navajo brainstem syndrome LEXMATCH -MONDO:0011099 human HOXA1 syndromes skos:exactMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label athabaskan brainstem dysgenesis syndrome LEXMATCH -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:exactMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hjmd LEXMATCH -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis with juvenile macular dystrophy LEXMATCH -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:exactMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, lowry type LEXMATCH -MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4c LEXMATCH -MONDO:0011114 familial multiple trichoepithelioma skos:exactMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple trichoepithelioma LEXMATCH -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:exactMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung agenesis-heart defect-thumb anomalies syndrome LEXMATCH -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:exactMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-abnormal dentition syndrome LEXMATCH -MONDO:0011128 Sheldon-hall syndrome skos:exactMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sheldon-hall syndrome LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alymphoid cystic thymic dysgenesis LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome LEXMATCH -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym winged helix deficiency LEXMATCH -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:exactMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deaf blind hypopigmentation syndrome, yemenite type LEXMATCH -MONDO:0011134 Curry-Jones syndrome skos:exactMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label curry-jones syndrome LEXMATCH -MONDO:0011136 Quebec platelet disorder skos:exactMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label quebec platelet disorder LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome, kosho type LEXMATCH -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label musculocontractural ehlers-danlos syndrome LEXMATCH -MONDO:0011146 tetrasomy 12p skos:exactMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 12p LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18q deletion syndrome LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 18q LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy 18q LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 18q LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 18q LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the long arm of chromosome 18 LEXMATCH -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 18 LEXMATCH -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:exactMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acroosteolysis-keloid-like lesions-premature aging syndrome LEXMATCH -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, palagonia type LEXMATCH -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 2 LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellotrigeminal-dermal dysplasia syndrome LEXMATCH -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:exactMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniosynostosis-alopecia-brain defect syndrome LEXMATCH -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:exactMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-atrial septal defects-facial changes syndrome LEXMATCH -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:exactMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to telethonin deficiency LEXMATCH -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2g LEXMATCH -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:exactMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-tricho-ungual-digito-palmar syndrome LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypomagnesemia caused by selective magnesium malabsorption LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypomagnesemia intestinal type 1 LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal hypomagnesemia with secondary hypocalcemia LEXMATCH -MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hypomagnesemia with secondary hypocalcemia LEXMATCH -MONDO:0011178 infantile convulsions and choreoathetosis skos:exactMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile convulsions and choreoathetosis LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia LEXMATCH -MONDO:0011184 childhood apraxia of speech skos:exactMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-language disorder type 1 LEXMATCH -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiel-behnke corneal dystrophy LEXMATCH -MONDO:0011197 hereditary thermosensitive neuropathy skos:exactMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary thermosensitive neuropathy LEXMATCH -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, missouri type LEXMATCH -MONDO:0011202 RHYNS syndrome skos:exactMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhyns syndrome LEXMATCH -MONDO:0011208 malignant atrophic papulosis skos:exactMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant atrophic papulosis LEXMATCH -MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial spondylometaphyseal dysplasia LEXMATCH -MONDO:0011213 Pierpont syndrome skos:exactMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierpont syndrome LEXMATCH -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 3 LEXMATCH -MONDO:0011215 osteocraniostenosis skos:exactMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteocraniostenosis LEXMATCH -MONDO:0011217 desmosterolosis skos:exactMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmosterolosis LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis-congenital ichthyosis syndrome LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis-follicular atrophoderma-hypotrichosis syndrome LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ifah syndrome LEXMATCH -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis-hypotrichosis syndrome LEXMATCH -MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fried's tooth and nail syndrome LEXMATCH -MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 4 LEXMATCH -MONDO:0011224 monomelic amyotrophy skos:exactMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomelic amyotrophy LEXMATCH -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to dclre1c deficiency LEXMATCH -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:exactMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome LEXMATCH -MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ethylmalonic encephalopathy LEXMATCH -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:exactMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic dysplasia-arthrogryposis of lower limbs syndrome LEXMATCH -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:exactMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous macrophthalmia-microcornea syndrome LEXMATCH -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-capillary malformation-polymicrogyria syndrome LEXMATCH -MONDO:0011243 grange syndrome skos:exactMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grange syndrome LEXMATCH -MONDO:0011244 Marshall-Smith syndrome skos:exactMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marshall-smith syndrome LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital megaconial myopathy LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy with mitochondrial structural abnormalities LEXMATCH -MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megaconial congenital muscular dystrophy LEXMATCH -MONDO:0011248 distal monosomy 13q skos:exactMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 13q32 deletion LEXMATCH -MONDO:0011248 distal monosomy 13q skos:exactMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 13q32 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:exactMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 13q32 LEXMATCH -MONDO:0011248 distal monosomy 13q skos:exactMatch Orphanet:1590 Distal deletion 13q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 13q LEXMATCH -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:exactMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, shohat type LEXMATCH -MONDO:0011253 craniomicromelic syndrome skos:exactMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniomicromelic syndrome LEXMATCH -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:exactMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis-macroblepharon-macrostomia syndrome LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ib LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ib LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ib LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1b LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ib LEXMATCH -MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphomannose isomerase deficiency LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:exactMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized cervical and upper-limb-onset dystonia LEXMATCH -MONDO:0011264 torsion dystonia 6 skos:exactMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia of mixed type LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy type 2 LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal myotonic dystrophy LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ricker disease LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ricker syndrome LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myotonic myopathy LEXMATCH -MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy type 2 LEXMATCH -MONDO:0011273 H syndrome skos:exactMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label h syndrome LEXMATCH -MONDO:0011274 Muenke syndrome skos:exactMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muenke syndrome LEXMATCH -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acromesomelic dysplasia, maroteaux type LEXMATCH -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-anal anomalies-porokeratosis syndrome LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ic LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ic LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ic LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1c LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ic LEXMATCH -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosyltransferase 1 deficiency LEXMATCH -MONDO:0011299 Huntington disease-like 1 skos:exactMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 1 LEXMATCH -MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1b LEXMATCH -MONDO:0011308 GRACILE syndrome skos:exactMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gracile syndrome LEXMATCH -MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gestational hyperthyroidism LEXMATCH -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis-microcephaly-scoliosis syndrome LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disease LEXMATCH -MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 10 LEXMATCH -MONDO:0011331 congenital chylothorax skos:exactMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax LEXMATCH -MONDO:0011334 limb-mammary syndrome skos:exactMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-mammary syndrome LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym semd-md LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxicity, hall type LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with multiple dislocations, hall type LEXMATCH -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type LEXMATCH -MONDO:0011338 Omenn syndrome skos:exactMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omenn syndrome LEXMATCH -MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 8 LEXMATCH -MONDO:0011340 congenital tracheal stenosis skos:exactMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tracheal stenosis LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iif LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iif LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iif LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmp-sialic acid transporter deficiency LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2f LEXMATCH -MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch Orphanet:238459 SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iif LEXMATCH -MONDO:0011346 xanthinuria type II skos:exactMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthinuria type ii LEXMATCH -MONDO:0011348 non-syndromic polydactyly skos:exactMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic polydactyly LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acromelic frontonasal dysostosis LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym toriello syndrome LEXMATCH -MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acromelic frontonasal dysostosis LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edström myopathy LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary inclusion body myopathy with early respiratory failure LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hibm-erf LEXMATCH -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myofibrillar myopathy with early respiratory failure LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome LEXMATCH -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym say-barber-biesecker-young-simpson syndrome LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:exactMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dominant beta-thalassemia LEXMATCH -MONDO:0011382 sickle cell anemia skos:exactMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell anemia LEXMATCH -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephalic leukoencephalopathy with subcortical cysts LEXMATCH -MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camisa disease LEXMATCH -MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome LEXMATCH -MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym loricrin keratoderma LEXMATCH -MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vohwinkel syndrome with ichthyosis LEXMATCH -MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratoderma hereditarium mutilans with ichthyosis LEXMATCH -MONDO:0011396 loricrin keratoderma skos:exactMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym loricrin keratoderma LEXMATCH -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adca-dn syndrome LEXMATCH -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:exactMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystrophic epidermolysis bullosa pruriginosa LEXMATCH -MONDO:0011399 alpha thalassemia skos:exactMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpha-thalassemia LEXMATCH -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:exactMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataracts-facial dysmorphism-neuropathy syndrome LEXMATCH -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia LEXMATCH -MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 10 LEXMATCH -MONDO:0011411 Chudley-McCullough syndrome skos:exactMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chudley-mccullough syndrome LEXMATCH -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial encephalopathy with neuroserpin inclusion bodies LEXMATCH -MONDO:0011414 Peters anomaly skos:exactMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peters anomaly LEXMATCH -MONDO:0011417 hemochromatosis type 3 skos:exactMatch Orphanet:225123 TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tfr2-related hemochromatosis LEXMATCH -MONDO:0011420 short stature due to partial GHR deficiency skos:exactMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to partial ghr deficiency LEXMATCH -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:exactMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive proximal renal tubular acidosis LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency LEXMATCH -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2e LEXMATCH -MONDO:0011424 Carney triad skos:exactMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney triad LEXMATCH -MONDO:0011426 aceruloplasminemia skos:exactMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aceruloplasminemia LEXMATCH -MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic arthritis LEXMATCH -MONDO:0011430 pulverulent cataract skos:exactMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulverulent cataract LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharophimosis-intellectual disability syndrome type v LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs type v LEXMATCH -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:exactMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, verloes type LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 1 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinal muscular atrophy with respiratory distress LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmn6 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphragmatic spinal muscular atrophy LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type 6 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal-hmn type 6 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma1 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure type 1 LEXMATCH -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 LEXMATCH -MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 12 LEXMATCH -MONDO:0011441 complex regional pain syndrome type 1 skos:exactMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome type 1 LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakamura-osame syndrome LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia-intellectual disability-thin corpus callosum syndrome LEXMATCH -MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 11 LEXMATCH -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pparg-related familial partial lipodystrophy LEXMATCH -MONDO:0011449 Salla disease skos:exactMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salla disease LEXMATCH -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:exactMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome LEXMATCH -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-telangiectasia-like disorder LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial recurrent arthritis LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fra LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papa syndrome LEXMATCH -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch Orphanet:69126 PAPA syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyogenic arthritis-pyoderma gangrenosum-acne syndrome LEXMATCH -MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 11 LEXMATCH -MONDO:0011466 distal myopathy, Welander type skos:exactMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy, welander type LEXMATCH -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:exactMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy, okinawa type LEXMATCH -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:exactMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital amegakaryocytic thrombocytopenia LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcgrath syndrome LEXMATCH -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:exactMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectodermal dysplasia-skin fragility syndrome LEXMATCH -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b2 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:exactMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bare lymphocyte syndrome type 1 LEXMATCH -MONDO:0011476 MHC class I deficiency skos:exactMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mhc class i deficiency LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial orthostatic tachycardia due to norepinephrine transporter deficiency LEXMATCH -MONDO:0011479 postural orthostatic tachycardia syndrome skos:exactMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orthostatic intolerance due to net deficiency LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:exactMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniosynostosis, warman type LEXMATCH -MONDO:0011481 craniosynostosis 2 skos:exactMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warman-mulliken-hayward syndrome LEXMATCH -MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital muscular dystrophy type 1b LEXMATCH -MONDO:0011487 Huntington disease-like 3 skos:exactMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 3 LEXMATCH -MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 12 LEXMATCH -MONDO:0011490 diffuse panbronchiolitis skos:exactMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse panbronchiolitis LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:exactMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 LEXMATCH -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis LEXMATCH -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:exactMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary north american indian childhood cirrhosis LEXMATCH -MONDO:0011500 Becker nevus syndrome skos:exactMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label becker nevus syndrome LEXMATCH -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:exactMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia LEXMATCH -MONDO:0011504 NDE1-related microhydranencephaly skos:exactMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nde1-related microhydranencephaly LEXMATCH -MONDO:0011506 familial infantile myoclonic epilepsy skos:exactMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial infantile myoclonic epilepsy LEXMATCH -MONDO:0011510 Bohring-Opitz syndrome skos:exactMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bohring-opitz syndrome LEXMATCH -MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brooke-spiegler syndrome LEXMATCH -MONDO:0011514 tricuspid atresia skos:exactMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid atresia LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early-onset hypertension with exacerbation in pregnancy LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertension due to gain-of-function mutations in the mineralocorticoid receptor LEXMATCH -MONDO:0011517 pseudohyperaldosteronism type 2 skos:exactMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudohyperaldosteronism type 2 LEXMATCH -MONDO:0011518 Wiedemann-Steiner syndrome skos:exactMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-steiner syndrome LEXMATCH -MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 14 LEXMATCH -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:exactMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dianzani autoimmune lymphoproliferative disease LEXMATCH -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4e LEXMATCH -MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 2 LEXMATCH -MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 13 LEXMATCH -MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:exactMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia, savarirayan type LEXMATCH -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temtamy preaxial brachydactyly syndrome LEXMATCH -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4g LEXMATCH -MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrocephaly-intellectual disability-autism syndrome LEXMATCH -MONDO:0011539 nemaline myopathy 5 skos:exactMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amish nemaline myopathy LEXMATCH -MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 14 LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurosensory deafness with dilated cardiomyopathy LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurosensory hearing loss with dilated cardiomyopathy LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sensorineural hearing loss with dilated cardiomyopathy LEXMATCH -MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sensorineural deafness with dilated cardiomyopathy LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive segawa syndrome LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5b LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase-deficient dopa-responsive dystonia LEXMATCH -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive dopa-responsive dystonia LEXMATCH -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome LEXMATCH -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis type 2 LEXMATCH -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b1 LEXMATCH -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b2 LEXMATCH -MONDO:0011575 cerebrooculonasal syndrome skos:exactMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculonasal syndrome LEXMATCH -MONDO:0011576 familial hyperaldosteronism type II skos:exactMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism type ii LEXMATCH -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:exactMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial papillary thyroid carcinoma with renal papillary neoplasia LEXMATCH -MONDO:0011579 late-onset retinal degeneration skos:exactMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset retinal degeneration LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratoderma with woolly hair type ii LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kwwh type ii LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome LEXMATCH -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carvajal syndrome LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nfu1 deficiency LEXMATCH -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 1 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 2 LEXMATCH -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmnj LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coif syndrome LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital onychodysplasia of the index fingers LEXMATCH -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iso-kikuchi syndrome LEXMATCH -MONDO:0011599 birdshot chorioretinopathy skos:exactMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label birdshot chorioretinopathy LEXMATCH -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal intrahepatic cholestasis due to citrin deficiency LEXMATCH -MONDO:0011603 GNE myopathy skos:exactMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gne myopathy LEXMATCH -MONDO:0011604 spondylo-ocular syndrome skos:exactMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylo-ocular syndrome LEXMATCH -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:exactMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized basaloid follicular hamartoma syndrome LEXMATCH -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dimethylglycine dehydrogenase deficiency LEXMATCH -MONDO:0011612 glycine encephalopathy skos:exactMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy LEXMATCH -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase deficiency LEXMATCH -MONDO:0011615 East Texas bleeding disorder skos:exactMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label east texas bleeding disorder LEXMATCH -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:exactMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysplasia, braun-tinschert type LEXMATCH -MONDO:0011621 acropectoral syndrome skos:exactMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acropectoral syndrome LEXMATCH -MONDO:0011624 transaldolase deficiency skos:exactMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transaldolase deficiency LEXMATCH -MONDO:0011628 propionic acidemia skos:exactMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label propionic acidemia LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iib LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iib LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iib LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2b LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iib LEXMATCH -MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosidase 1 deficiency LEXMATCH -MONDO:0011631 hemochromatosis type 4 skos:exactMatch Orphanet:648562 Ferroportin Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ferroportin disease LEXMATCH -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2c LEXMATCH -MONDO:0011634 rippling muscle disease skos:exactMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disease LEXMATCH -MONDO:0011638 neuroferritinopathy skos:exactMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroferritinopathy LEXMATCH -MONDO:0011640 genitopatellar syndrome skos:exactMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genitopatellar syndrome LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH -MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phelan-mcdermid syndrome LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:exactMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar soft part sarcoma LEXMATCH -MONDO:0011655 alveolar soft part sarcoma skos:exactMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar soft part sarcoma LEXMATCH -MONDO:0011663 juvenile primary lateral sclerosis skos:exactMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile primary lateral sclerosis LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to cd25 deficiency LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia-cystinuria syndrome LEXMATCH -MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238517 Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotonia-cystinuria type 1 syndrome LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome due to tenascin-x deficiency LEXMATCH -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ehlers-danlos syndrome due to tenascin-x deficiency LEXMATCH -MONDO:0011671 Huntington disease-like 2 skos:exactMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 2 LEXMATCH -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:exactMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent polyclonal b-cell lymphocytosis LEXMATCH -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type a LEXMATCH -MONDO:0011676 PHACE syndrome skos:exactMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phace syndrome LEXMATCH -MONDO:0011681 episodic ataxia type 4 skos:exactMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 4 LEXMATCH -MONDO:0011682 episodic ataxia type 3 skos:exactMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 3 LEXMATCH -MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 4 LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:exactMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dna ligase iv deficiency LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:exactMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ligase 4 syndrome LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:exactMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lig4 syndrome LEXMATCH -MONDO:0011686 DNA ligase IV deficiency skos:exactMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dna ligase iv deficiency LEXMATCH -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2f LEXMATCH -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 15/16 LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycine n-methyltransferase deficiency LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypermethioninemia due to gnmt deficiency LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypermethioninemia due to glycine n-methyltransferase deficiency LEXMATCH -MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycine n-methyltransferase deficiency LEXMATCH -MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis LEXMATCH -MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kufor-rakeb syndrome LEXMATCH -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma-pancreatic cancer syndrome LEXMATCH -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma-pancreatic cancer syndrome LEXMATCH -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism-hyperammonemia syndrome LEXMATCH -MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal stromal tumor LEXMATCH -MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy with anterior tibial onset LEXMATCH -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:exactMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-obesity-prognathism-eye and skin anomalies syndrome LEXMATCH -MONDO:0011723 hemifacial myohyperplasia skos:exactMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemifacial myohyperplasia LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de vivo disease LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to glut1 deficiency LEXMATCH -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym encephalopathy due to glut1 deficiency LEXMATCH -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:exactMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome type 2 LEXMATCH -MONDO:0011730 fumaric aciduria skos:exactMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fumaric aciduria LEXMATCH -MONDO:0011731 glucose-galactose malabsorption skos:exactMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucose-galactose malabsorption LEXMATCH -MONDO:0011732 familial digital arthropathy-brachydactyly skos:exactMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly LEXMATCH -MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 3 LEXMATCH -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontoparietal polymicrogyria LEXMATCH -MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney-stratakis syndrome LEXMATCH -MONDO:0011744 primary intraosseous venous malformation skos:exactMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intraosseous venous malformation LEXMATCH -MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1b LEXMATCH -MONDO:0011758 Hurler syndrome skos:exactMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler syndrome LEXMATCH -MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler-scheie syndrome LEXMATCH -MONDO:0011760 Scheie syndrome skos:exactMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scheie syndrome LEXMATCH -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 5 LEXMATCH -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:exactMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 3 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmn3 and dhmn4 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type 3 and type 4 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma3 LEXMATCH -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 3 LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-1,4-galactosyltransferase deficiency LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iid LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iid LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iid LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2d LEXMATCH -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iid LEXMATCH -MONDO:0011773 anauxetic dysplasia skos:exactMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia LEXMATCH -MONDO:0011776 CINCA syndrome skos:exactMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cinca syndrome LEXMATCH -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:exactMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, al-gazali type LEXMATCH -MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ig LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ig LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ig LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1g LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ig LEXMATCH -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 8 deficiency LEXMATCH -MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 19 LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to fkrp deficiency LEXMATCH -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2i LEXMATCH -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:exactMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloverleaf skull-multiple congenital anomalies syndrome LEXMATCH -MONDO:0011790 Amish lethal microcephaly skos:exactMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amish lethal microcephaly LEXMATCH -MONDO:0011795 anonychia-microcephaly syndrome skos:exactMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia-microcephaly syndrome LEXMATCH -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:exactMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset ascending hereditary spastic paralysis LEXMATCH -MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alps with recurrent viral infections LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caspase 8 deficiency syndrome LEXMATCH -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoimmune lymphoproliferative syndrome with recurrent viral infections LEXMATCH -MONDO:0011806 osteofibrous dysplasia skos:exactMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteofibrous dysplasia LEXMATCH -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:exactMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horizontal gaze palsy with progressive scoliosis LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane-radial ray syndrome LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label okihiro syndrome LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym duane-radial ray syndrome LEXMATCH -MONDO:0011812 Duane-radial ray syndrome skos:exactMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acro-renal-ocular syndrome LEXMATCH -MONDO:0011816 lathosterolosis skos:exactMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lathosterolosis LEXMATCH -MONDO:0011818 isolated focal cortical dysplasia type II skos:exactMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ii LEXMATCH -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:exactMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type iii LEXMATCH -MONDO:0011822 Bartter disease type 3 skos:exactMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 3 LEXMATCH -MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:exactMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental malformations-deafness-dystonia syndrome LEXMATCH -MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly due to lis1 mutation LEXMATCH -MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 21 LEXMATCH -MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 18 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pme type 5 LEXMATCH -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonus epilepsy type 5 LEXMATCH -MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bothnia retinal dystrophy LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thiamine-responsive encephalopathy LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label biotin-thiamine-responsive basal ganglia disease LEXMATCH -MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym biotin-responsive basal ganglia disease LEXMATCH -MONDO:0011855 granular corneal dystrophy type II skos:exactMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granular corneal dystrophy type ii LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome LEXMATCH -MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 24 LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple contracture syndrome, israeli-bedouin type LEXMATCH -MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal congenital contracture syndrome type 2 LEXMATCH -MONDO:0011870 annular epidermolytic ichthyosis skos:exactMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular epidermolytic ichthyosis LEXMATCH -MONDO:0011871 Niemann-Pick disease type B skos:exactMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym niemann-pick disease type b LEXMATCH -MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 2 LEXMATCH -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:exactMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal ichthyosis-sclerosing cholangitis syndrome LEXMATCH -MONDO:0011876 juvenile absence epilepsy skos:exactMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile absence epilepsy LEXMATCH -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant osteopetrosis type 1 LEXMATCH -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin fragility-woolly hair-palmoplantar keratoderma syndrome LEXMATCH -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:exactMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chac syndrome LEXMATCH -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome LEXMATCH -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:exactMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulointerstitial nephritis and uveitis syndrome LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:exactMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary dystonia with mixed phenotype LEXMATCH -MONDO:0011886 torsion dystonia 13 skos:exactMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary torsion dystonia with predominant craniocervical or upper limb onset LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:exactMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym irak4 deficiency LEXMATCH -MONDO:0011888 immunodeficiency 67 skos:exactMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency LEXMATCH -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1d LEXMATCH -MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2e LEXMATCH -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:exactMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypereosinophilic syndrome LEXMATCH -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-delayed dentition-hypomyelination syndrome LEXMATCH -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ar-cmt2c LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive axonal cmt4c2 LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym axonal charcot-marie-tooth disease with pyramidal involvement LEXMATCH -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disease type 2h LEXMATCH -MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1f LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neonatal-infantile epilepsy LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial neonatal-infantile seizures LEXMATCH -MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 1 LEXMATCH -MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocapitofemoral dysplasia LEXMATCH -MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myelomonocytic leukemia LEXMATCH -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type d LEXMATCH -MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniolenticulosutural dysplasia LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disease type 2k LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive axonal cmt4c4 LEXMATCH -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive charcot-marie-tooth disease with hoarseness LEXMATCH -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:exactMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult idiopathic neutropenia LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy due to laminin alpha2 deficiency LEXMATCH -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym merosin-negative congenital muscular dystrophy LEXMATCH -MONDO:0011927 tufted angioma skos:exactMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tufted angioma LEXMATCH -MONDO:0011928 caudal duplication skos:exactMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal duplication LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(p36) LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 1p36 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 1pter LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1p36 LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1pter LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subtelomeric 1p36 deletion LEXMATCH -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1p36 deletion syndrome LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ii LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ii LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1i LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii LEXMATCH -MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 2 deficiency LEXMATCH -MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatofibrosarcoma protuberans LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia with brain and digit anomalies LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloenchondromatosis LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with enchondromatous changes LEXMATCH -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloenchondrodysplasia LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perinatal lethal gaucher disease LEXMATCH -MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal gaucher disease LEXMATCH -MONDO:0011946 diaphanospondylodysostosis skos:exactMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphanospondylodysostosis LEXMATCH -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 3 LEXMATCH -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset autosomal recessive nonprogressive cerebellar ataxia LEXMATCH -MONDO:0011953 familial acute necrotizing encephalopathy skos:exactMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial acute necrotizing encephalopathy LEXMATCH -MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal macular dystrophy type 2 LEXMATCH -MONDO:0011959 sweet syndrome skos:exactMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sweet syndrome LEXMATCH -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 1b LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ij LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ij LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ij LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1j LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ij LEXMATCH -MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-sarcoglycanopathy LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2d LEXMATCH -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2d LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ih LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ih LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ih LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1h LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ih LEXMATCH -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosyltransferase 2 deficiency LEXMATCH -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome LEXMATCH -MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 5 LEXMATCH -MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian hyperstimulation syndrome LEXMATCH -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym upd(14)pat LEXMATCH -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:exactMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipodystrophy-intellectual disability-deafness syndrome LEXMATCH -MONDO:0011977 8q22.1 microdeletion syndrome skos:exactMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q22.1 microdeletion syndrome LEXMATCH -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset foveomacular vitelliform dystrophy LEXMATCH -MONDO:0011984 synpolydactyly type 2 skos:exactMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 2 LEXMATCH -MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 4 LEXMATCH -MONDO:0011986 tropical pancreatitis skos:exactMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical pancreatitis LEXMATCH -MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutrophil immunodeficiency syndrome LEXMATCH -MONDO:0011989 leishmaniasis skos:exactMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic paraplegia-disc herniation syndrome LEXMATCH -MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 25 LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic granulocytic leukemia LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic myelogenous leukemia LEXMATCH -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloid leukemia LEXMATCH -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:exactMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant slowed nerve conduction velocity LEXMATCH -MONDO:0012004 parathyroid gland carcinoma skos:exactMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parathyroid carcinoma LEXMATCH -MONDO:0012008 Lelis syndrome skos:exactMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lelis syndrome LEXMATCH -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type c LEXMATCH -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:exactMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gemss syndrome LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type a LEXMATCH -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type a LEXMATCH -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:exactMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cm-avm LEXMATCH -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, kimberley type LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 22q11.2 microduplication syndrome LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(22)(q11) LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duplication 22q11.2 LEXMATCH -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 22q11.2 LEXMATCH -MONDO:0012032 Braddock syndrome skos:exactMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label braddock syndrome LEXMATCH -MONDO:0012033 bradyopsia skos:exactMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bradyopsia LEXMATCH -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1f LEXMATCH -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:exactMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-intracranial calcifications syndrome LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutyh-related afap LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutyh-related attenuated familial polyposis coli LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutyh-related attenuated fap LEXMATCH -MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mutyh-related attenuated familial adenomatous polyposis LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior limiting membrane dystrophy type 1 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior limiting membrane dystrophy type i LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical granular corneal dystrophy LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym corneal dystrophy of bowman layer type 1 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym corneal dystrophy of bowman layer type i LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym geographic corneal dystrophy LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granular corneal dystrophy type 3 LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granular corneal dystrophy type iii LEXMATCH -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial granular corneal dystrophy LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ik LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ik LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ik LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1k LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ik LEXMATCH -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 1 deficiency LEXMATCH -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:exactMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen-like osseous dysplasia-short stature syndrome LEXMATCH -MONDO:0012061 familial sick sinus syndrome skos:exactMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial sick sinus syndrome LEXMATCH -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:exactMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar/fibula ray defect-brachydactyly syndrome LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label burn-mckeown syndrome LEXMATCH -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome LEXMATCH -MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial partial lipodystrophy type 1 LEXMATCH -MONDO:0012073 ribose-5-P isomerase deficiency skos:exactMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ribose-5-p isomerase deficiency LEXMATCH -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia with type b lipodystrophy LEXMATCH -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:exactMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodontia-cancer predisposition syndrome LEXMATCH -MONDO:0012081 15q11q13 microduplication syndrome skos:exactMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q11q13 microduplication syndrome LEXMATCH -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatic l-amino acid decarboxylase deficiency LEXMATCH -MONDO:0012089 ichthyosis prematurity syndrome skos:exactMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ichthyosis type 4 LEXMATCH -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 5 LEXMATCH -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:exactMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-brachydactyly-pierre robin syndrome LEXMATCH -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2l LEXMATCH -MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 20 LEXMATCH -MONDO:0012099 AICA-ribosiduria skos:exactMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aica-ribosiduria LEXMATCH -MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 25 LEXMATCH -MONDO:0012104 acquired partial lipodystrophy skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired partial lipodystrophy LEXMATCH -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis LEXMATCH -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:exactMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, matrilin-3 type LEXMATCH -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:exactMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay due to insulin-like growth factor type 1 deficiency LEXMATCH -MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 8 LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type il LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-il LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1l LEXMATCH -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 7-9 deficiency LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iie LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iie LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iie LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2e LEXMATCH -MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iie LEXMATCH -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase phosphatase deficiency LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ie LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ie LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ie LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1e LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ie LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dol-p-mannosyltransferase deficiency LEXMATCH -MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type 1e LEXMATCH -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:exactMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sudden infant death-dysgenesis of the testes syndrome LEXMATCH -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pelizaeus-merzbacher-like disease due to gjc2 mutation LEXMATCH -MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial avascular necrosis of femoral head LEXMATCH -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2j LEXMATCH -MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym late-onset distal crystallinopathy LEXMATCH -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:exactMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome LEXMATCH -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, neonatal form LEXMATCH -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:exactMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carney complex variant LEXMATCH -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:exactMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary cryohydrocytosis with reduced stomatin LEXMATCH -MONDO:0012155 choanal atresia skos:exactMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susceptibility to respiratory infections associated with cd8alpha chain mutation LEXMATCH -MONDO:0012164 Meacham syndrome skos:exactMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meacham syndrome LEXMATCH -MONDO:0012165 BNAR syndrome skos:exactMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bnar syndrome LEXMATCH -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency LEXMATCH -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long chain 3-hydroxyacyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012176 Emanuel syndrome skos:exactMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emanuel syndrome LEXMATCH -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:exactMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior column ataxia-retinitis pigmentosa syndrome LEXMATCH -MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 27 LEXMATCH -MONDO:0012184 Pierson syndrome skos:exactMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierson syndrome LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, a4 type LEXMATCH -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 LEXMATCH -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:exactMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome LEXMATCH -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1g LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-severe scoliosis syndrome LEXMATCH -MONDO:0012197 idiopathic aplastic anemia skos:exactMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic aplastic anemia LEXMATCH -MONDO:0012198 PCWH syndrome skos:exactMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurologic waardenburg-shah syndrome LEXMATCH -MONDO:0012198 PCWH syndrome skos:exactMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ws4 plus LEXMATCH -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperthyroidism due to mutations in tsh receptor LEXMATCH -MONDO:0012204 familial pseudohyperkalemia skos:exactMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pseudohyperkalemia LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym czech dysplasia, metatarsal type LEXMATCH -MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym czech dysplasia, metatarsal type LEXMATCH -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:exactMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital reticular ichthyosiform erythroderma LEXMATCH -MONDO:0012209 branchiogenic deafness syndrome skos:exactMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiogenic deafness syndrome LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type if LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type if LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-if LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1f LEXMATCH -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type if LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gm2 synthase deficiency LEXMATCH -MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 26 LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:209224 Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to myotilin deficiency LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant limb-girdle muscular dystrophy type 1a LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spheroid body myopathy LEXMATCH -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal myotilinopathy LEXMATCH -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhonda syndrome LEXMATCH -MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 3 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 1 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 2 LEXMATCH -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 7 LEXMATCH -MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 26 LEXMATCH -MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 27 LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy-intellectual disability syndrome LEXMATCH -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2k LEXMATCH -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4h LEXMATCH -MONDO:0012251 MEDNIK syndrome skos:exactMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mednik syndrome LEXMATCH -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:exactMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, with severe proximal femoral dysplasia LEXMATCH -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:exactMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, with miniepiphyses LEXMATCH -MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 28 LEXMATCH -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:exactMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-migr LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3q subtelomere deletion syndrome LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3qter deletion LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(3)(q29) LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3q29 LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3qter LEXMATCH -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3q29 microdeletion syndrome LEXMATCH -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:exactMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesoaxial synostotic syndactyly with phalangeal reduction LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:exactMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal valproate syndrome LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:exactMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal valproic acid syndrome LEXMATCH -MONDO:0012275 fetal valproate syndrome skos:exactMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal valproate syndrome LEXMATCH -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized epilepsy-paroxysmal dyskinesia syndrome LEXMATCH -MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zasp-related myofibrillar myopathy LEXMATCH -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:exactMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goldberg-shprintzen megacolon syndrome LEXMATCH -MONDO:0012290 CEDNIK syndrome skos:exactMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cednik syndrome LEXMATCH -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, myopathic form LEXMATCH -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:exactMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial scaphocephaly syndrome, mcgillivray type LEXMATCH -MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with renal defect LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:exactMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 10q LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:exactMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10qter LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:exactMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 10q LEXMATCH -MONDO:0012315 distal 10q deletion syndrome skos:exactMatch Orphanet:96148 Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 10q LEXMATCH -MONDO:0012316 Majeed syndrome skos:exactMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label majeed syndrome LEXMATCH -MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 14q22-q23 microdeletion syndrome LEXMATCH -MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(14)(q22q23) LEXMATCH -MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q22-q23 LEXMATCH -MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q22q23 LEXMATCH -MONDO:0012324 Frias syndrome skos:exactMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 14q22q23 microdeletion syndrome LEXMATCH -MONDO:0012330 talo-patello-scaphoid osteolysis skos:exactMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label talo-patello-scaphoid osteolysis LEXMATCH -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:exactMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to pro-opiomelanocortin deficiency LEXMATCH -MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7q11.23 microduplication syndrome LEXMATCH -MONDO:0012345 acral peeling skin syndrome skos:exactMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral peeling skin syndrome LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:exactMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 LEXMATCH -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:exactMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to partial rag1 deficiency LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym n-acyl-l-amino acid amidohydrolase deficiency LEXMATCH -MONDO:0012368 aminoacylase 1 deficiency skos:exactMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurological conditions associated with aminoacylase 1 deficiency LEXMATCH -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to insr deficiency LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinism due to glutamodehydrogenase deficiency LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinism due to schad deficiency LEXMATCH -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency LEXMATCH -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:exactMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerosis-ichthyosis-premature ovarian failure syndrome LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln8 disease, northern epilepsy variant LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ncl, northern epilepsy variant LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, northern epilepsy variant LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym northern epilepsy LEXMATCH -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive epilepsy-intellectual disability syndrome, finnish type LEXMATCH -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-methylbutyryl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital brain dysgenesis due to glutamine synthetase deficiency LEXMATCH -MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exercise-induced hyperinsulinism LEXMATCH -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymicrogyria due to tubb2b mutation LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdfe syndrome LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical dysplasia-focal epilepsy syndrome LEXMATCH -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cortical dysplasia-focal epilepsy syndrome LEXMATCH -MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stromal corneal dystrophy LEXMATCH -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxal phosphate-responsive seizures LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label finnish upper limb-onset distal myopathy LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2 with giant axons LEXMATCH -MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn2 with giant axons LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 LEXMATCH -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cathepsin d deficiency LEXMATCH -MONDO:0012417 heart-hand syndrome, Slovenian type skos:exactMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome, slovenian type LEXMATCH -MONDO:0012423 MORM syndrome skos:exactMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morm syndrome LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-methylglutaconic aciduria type 5 LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dcma syndrome LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dilated cardiomyopathy with ataxia LEXMATCH -MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 3-methylglutaconic aciduria type 5 LEXMATCH -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:exactMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to a notch2 point mutation LEXMATCH -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:exactMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrhea-like dermatitis with psoriasiform elements LEXMATCH -MONDO:0012447 synpolydactyly type 3 skos:exactMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 3 LEXMATCH -MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 23 LEXMATCH -MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 28 LEXMATCH -MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 31 LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome LEXMATCH -MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome LEXMATCH -MONDO:0012456 congenital primary aphakia skos:exactMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary aphakia LEXMATCH -MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:exactMatch Orphanet:329329 Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive frontotemporal pachygyria LEXMATCH -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency LEXMATCH -MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone dystrophy with supernormal rod response LEXMATCH -MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal spastic paraplegia type 30 LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital malabsorptive diarrhea due to paucity of enteroendocrine cells LEXMATCH -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enteric anendocrinosis LEXMATCH -MONDO:0012481 mevalonic aciduria skos:exactMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonic aciduria LEXMATCH -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym semd, geneviève type LEXMATCH -MONDO:0012496 Koolen-de Vries syndrome skos:exactMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label koolen-de vries syndrome LEXMATCH -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly-tall stature-scoliosis-hearing loss syndrome LEXMATCH -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:exactMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome LEXMATCH -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 2 LEXMATCH -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 LEXMATCH -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypomyelination-congenital cataract syndrome LEXMATCH -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis-microcephaly syndrome LEXMATCH -MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical gaucher disease due to saposin c deficiency LEXMATCH -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:exactMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to 16p13.3 microdeletion LEXMATCH -MONDO:0012520 insulin-resistance syndrome type A skos:exactMatch Orphanet:2297 Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin-resistance syndrome type a LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:exactMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex meningo-encephalitis LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:exactMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex neuroinvasion LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:exactMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpetic encephalitis LEXMATCH -MONDO:0012521 herpes simplex encephalitis skos:exactMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hsv encephalitis LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hae 3 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hae-iii LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioedema type 3 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioneurotic edema type 3 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-associated angioedema LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-associated angioneurotic edema LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-dependent angioedema LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-dependent angioneurotic edema LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:exactMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary angioedema type 3 LEXMATCH -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:exactMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome LEXMATCH -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 4 LEXMATCH -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:exactMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness with labyrinthine aplasia, microtia, and microdontia LEXMATCH -MONDO:0012545 neutral lipid storage myopathy skos:exactMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutral lipid storage myopathy LEXMATCH -MONDO:0012548 Kostmann syndrome skos:exactMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kostmann syndrome LEXMATCH -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia, beauce type LEXMATCH -MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 4 LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type im LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type im LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-im LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1m LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type im LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichol kinase deficiency LEXMATCH -MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotonia and ichthyosis due to dolichol phosphate deficiency LEXMATCH -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:exactMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy-hypotonia-lactic acidosis syndrome LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency syndrome with short stature LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary immunodeficiency syndrome due to lamtor2 deficiency LEXMATCH -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency syndrome due to p14 deficiency LEXMATCH -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:exactMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym potocki-lupski syndrome LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17p11.2 LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17p11.2 microduplication syndrome LEXMATCH -MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym potocki-lupski syndrome LEXMATCH -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pulmonary alveolar proteinosis LEXMATCH -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary pulmonary alveolar proteinosis LEXMATCH -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:exactMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease due to abca3 deficiency LEXMATCH -MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pitt-hopkins syndrome LEXMATCH -MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 5 LEXMATCH -MONDO:0012593 brain-lung-thyroid syndrome skos:exactMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain-lung-thyroid syndrome LEXMATCH -MONDO:0012605 isolated microphthalmia 5 skos:exactMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 4 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy type 4 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma4 LEXMATCH -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive lower motor neuron disease with childhood onset LEXMATCH -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pmse syndrome LEXMATCH -MONDO:0012621 deafness-infertility syndrome skos:exactMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-infertility syndrome LEXMATCH -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:exactMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acyl-coa dehydrogenase 9 deficiency LEXMATCH -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:exactMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamamy syndrome LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iih LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iih LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iih LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2h LEXMATCH -MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iih LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iig LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iig LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iig LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2g LEXMATCH -MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iig LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia-brain atrophy syndrome LEXMATCH -MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4j LEXMATCH -MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 32 LEXMATCH -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isobutyryl-coa dehydrogenase deficiency LEXMATCH -MONDO:0012650 Cernunnos-XLF deficiency skos:exactMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cernunnos-xlf deficiency LEXMATCH -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2l LEXMATCH -MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal congenital contracture syndrome type 3 LEXMATCH -MONDO:0012658 brachydactyly type B2 skos:exactMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b2 LEXMATCH -MONDO:0012664 spastic ataxia 3 skos:exactMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 3 LEXMATCH -MONDO:0012669 Legius syndrome skos:exactMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome LEXMATCH -MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticosteroid-binding globulin deficiency LEXMATCH -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive intermediate osteopetrosis LEXMATCH -MONDO:0012682 immunodeficiency 35 skos:exactMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label susceptibility to infection due to tyk2 deficiency LEXMATCH -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 6 LEXMATCH -MONDO:0012687 familial cavitary optic disk anomaly skos:exactMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial coda LEXMATCH -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to muscle and heart glycogen synthase deficiency LEXMATCH -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2m LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym drta with anemia LEXMATCH -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:exactMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal renal tubular acidosis with anemia LEXMATCH -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly due to tuba1a mutation LEXMATCH -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset myopathy with fatal cardiomyopathy LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome LEXMATCH -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia with lactic acidemia and hyperammonemia LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:exactMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined prosaposin deficiency LEXMATCH -MONDO:0012719 combined PSAP deficiency skos:exactMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalopathy due to prosaposin deficiency LEXMATCH -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 3 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome type 2 LEXMATCH -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nlrp12-associated hereditary periodic fever syndrome LEXMATCH -MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoprotein glomerulopathy LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hanac syndrome LEXMATCH -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:exactMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucocutaneous lymph node syndrome LEXMATCH -MONDO:0012727 mucocutaneous lymph node syndrome skos:exactMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucocutaneous lymph node syndrome LEXMATCH -MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive bestrophinopathy LEXMATCH -MONDO:0012734 SERKAL syndrome skos:exactMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serkal syndrome LEXMATCH -MONDO:0012735 Temple-Baraitser syndrome skos:exactMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temple-baraitser syndrome LEXMATCH -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:exactMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal del(22)(q11.2) LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 22q11.2 LEXMATCH -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal 22q11.2 microdeletion syndrome LEXMATCH -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to aldolase a deficiency LEXMATCH -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:exactMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vuopala disease LEXMATCH -MONDO:0012755 episodic ataxia type 7 skos:exactMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 7 LEXMATCH -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal 16p11.2 microdeletion syndrome LEXMATCH -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:exactMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome LEXMATCH -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:exactMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 3 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 3q29 LEXMATCH -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3q29 microduplication syndrome LEXMATCH -MONDO:0012764 RIDDLE syndrome skos:exactMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label riddle syndrome LEXMATCH -MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 37 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(15)(q13.3) LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q13.3 LEXMATCH -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 15q13.3 microdeletion syndrome LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type in LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type in LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-in LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1n LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type in LEXMATCH -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym man5glcnac2-pp-dol flippase deficiency LEXMATCH -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to ubiquinone deficiency LEXMATCH -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile cataract-microcornea-renal glucosuria syndrome LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia due to neuropathy target esterase mutation LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia due to nte mutation LEXMATCH -MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 39 LEXMATCH -MONDO:0012789 dystonia 16 skos:exactMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia 16 LEXMATCH -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria LEXMATCH -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy LEXMATCH -MONDO:0012794 ANE syndrome skos:exactMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ane syndrome LEXMATCH -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:exactMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated trehalose intolerance LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 18 LEXMATCH -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ped LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-pa LEXMATCH -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:exactMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex with pyloric atresia LEXMATCH -MONDO:0012809 histiocytoma, Angiomatoid fibrous skos:exactMatch Orphanet:569164 Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angiomatoid fibrous histiocytoma LEXMATCH -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch Orphanet:599373 STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stxbp1-related encephalopathy LEXMATCH -MONDO:0012815 Coats plus syndrome skos:exactMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coats plus syndrome LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy LEXMATCH -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pelizaeus-merzbacher-like disease due to hspd1 mutation LEXMATCH -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraskeletal myxoid chondrosarcoma LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(10)(q22.3q23.3) LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 10q22.3q23.3 LEXMATCH -MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10q22.3q23.3 LEXMATCH -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crouzon syndrome-acanthosis nigricans syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniofacial dysostosis-genital, dental, cardiac anomalies syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gcm syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gorlin-chaudhry-moss syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fontaine progeroid syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym petty syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym petty-laxova-wiedemann syndrome LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progeroid syndrome, petty type LEXMATCH -MONDO:0012853 Fontaine progeroid syndrome skos:exactMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fontaine progeroid syndrome LEXMATCH -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:exactMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral microtia-deafness-cleft palate syndrome LEXMATCH -MONDO:0012856 Birk-Barel syndrome skos:exactMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-hypotonia-facial dysmorphism syndrome LEXMATCH -MONDO:0012858 primary CD59 deficiency skos:exactMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cd59 deficiency LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive osteopetrosis type 7 LEXMATCH -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteopetrosis-hypogammaglobulinemia syndrome LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(q32) LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(q32q33) LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2q32 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2q32q33 LEXMATCH -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 2q32q33 microdeletion syndrome LEXMATCH -MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 35 LEXMATCH -MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 38 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:exactMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute promyelocytic leukemia LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iq LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iq LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1q LEXMATCH -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iq LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone fragility-contractures-arterial rupture-deafness syndrome LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym connective tissue disorder due to lh3 deficiency LEXMATCH -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:exactMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label connective tissue disorder due to lysyl hydroxylase-3 deficiency LEXMATCH -MONDO:0012897 congenital factor XI deficiency skos:exactMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xi deficiency LEXMATCH -MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital prekallikrein deficiency LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h-abc LEXMATCH -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypomyelination with atrophy of basal ganglia and cerebellum LEXMATCH -MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1c LEXMATCH -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudopseudohypoparathyroidism LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(q21) LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1q21.1 LEXMATCH -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1q21.1 microdeletion syndrome LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(1)(q21.1) LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 1q21.1 LEXMATCH -MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1q21.1 microduplication syndrome LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(p15p16.1) LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2p15p16.1 LEXMATCH -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 2p15p16.1 microdeletion syndrome LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(q41q42) LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1q41q42 LEXMATCH -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1q41q42 microdeletion syndrome LEXMATCH -MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 42 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 6p subtelomeric deletion syndrome LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 6p25 microdeletion syndrome LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 6p25 LEXMATCH -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch Orphanet:96125 Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 6p LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 15q26 deletion syndrome LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 15q LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q26 LEXMATCH -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch Orphanet:1596 Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric 15q deletion syndrome LEXMATCH -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:exactMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to adenylate kinase deficiency LEXMATCH -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocrine-cerebro-osteodysplasia syndrome LEXMATCH -MONDO:0012982 episodic ataxia type 6 skos:exactMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 6 LEXMATCH -MONDO:0012984 PHARC syndrome skos:exactMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral neuropathy, fiskerstrand type LEXMATCH -MONDO:0012984 PHARC syndrome skos:exactMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharc syndrome LEXMATCH -MONDO:0012984 PHARC syndrome skos:exactMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pharc syndrome LEXMATCH -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral parasagittal parieto-occipital polymicrogyria LEXMATCH -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:exactMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic insufficiency-anemia-hyperostosis syndrome LEXMATCH -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dopa-responsive dystonia due to sepiapterin reductase deficiency LEXMATCH -MONDO:0012996 AGAT deficiency skos:exactMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agat deficiency LEXMATCH -MONDO:0012996 AGAT deficiency skos:exactMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label l-arginine:glycine amidinotransferase deficiency LEXMATCH -MONDO:0012996 AGAT deficiency skos:exactMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym agat deficiency LEXMATCH -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:exactMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis-pigmentary retinopathy-cleft palate syndrome LEXMATCH -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guanidinoacetate methyltransferase deficiency LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria due to ala dehydratase deficiency LEXMATCH -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria LEXMATCH -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:exactMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypoglossia/aglossia LEXMATCH -MONDO:0013005 EAST syndrome skos:exactMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label east syndrome LEXMATCH -MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ib LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to orai1 deficiency LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to stim1 deficiency LEXMATCH -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:exactMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, aggrecan type LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad-1 variant LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad-iii LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukocyte adhesion deficiency-1 variant LEXMATCH -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type iii LEXMATCH -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterile multifocal osteomyelitis with periostitis and pustulosis LEXMATCH -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic thromboembolic pulmonary hypertension LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(6)(q25) LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 6q25 LEXMATCH -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 6q25 microdeletion syndrome LEXMATCH -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subepithelial mucinous corneal dystrophy LEXMATCH -MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior amorphous corneal dystrophy LEXMATCH -MONDO:0013028 adenosine monophosphate deaminase deficiency skos:exactMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenosine monophosphate deaminase deficiency LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 11 LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome, gabrielli type LEXMATCH -MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome, gabrielli type LEXMATCH -MONDO:0013036 Zechi-Ceide syndrome skos:exactMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zechi-ceide syndrome LEXMATCH -MONDO:0013038 CLOVES syndrome skos:exactMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloves syndrome LEXMATCH -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to muscle beta-enolase deficiency LEXMATCH -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase m-subunit deficiency LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type io LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type io LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-io LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1o LEXMATCH -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:exactMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type io LEXMATCH -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:exactMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal polymalformative syndrome, boissel type LEXMATCH -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2b LEXMATCH -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:exactMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agc1 deficiency LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial aspartate-glutamate carrier 1 deficiency LEXMATCH -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epileptic encephalopathy with global cerebral demyelination LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic leukoencephalopathy without megalencephaly LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia-parkinsonism, paisan-ruiz type LEXMATCH -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pla2g6-related dystonia-parkinsonism LEXMATCH -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive optic atrophy, opa7 type LEXMATCH -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:exactMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalocraniocutaneous lipomatosis LEXMATCH -MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym itk deficiency LEXMATCH -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:exactMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-ganglioneuroblastoma syndrome LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(19)(q13.11) LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 19q13.11 LEXMATCH -MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 19q13.11 microdeletion syndrome LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixc LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9c LEXMATCH -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixc LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial congenital hypopituitarism LEXMATCH -MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:exactMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple pituitary hormone deficiencies, genetic forms LEXMATCH -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegenerative syndrome due to cerebral folate transport deficiency LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute infantile liver failure due to synthesis defect of mtdna-encoded proteins LEXMATCH -MONDO:0013115 RIN2 syndrome skos:exactMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rin2 syndrome LEXMATCH -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:exactMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome LEXMATCH -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:exactMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nijmegen breakage syndrome-like disorder LEXMATCH -MONDO:0013125 CLAPO syndrome skos:exactMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clapo syndrome LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short rib-polydactyly syndrome type 1 LEXMATCH -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short rib-polydactyly syndrome type 3 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adtkd-ren LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy type 2 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fjhn type 2 LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ren-associated familial juvenile hyperuricemic nephropathy LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ren-associated fjhn LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ren-associated kidney disease LEXMATCH -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:exactMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy type 2 LEXMATCH -MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 36 LEXMATCH -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:exactMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypotrichosis with recurrent skin vesicles LEXMATCH -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombophilia due to congenital antithrombin 3 deficiency LEXMATCH -MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary thrombophilia due to congenital antithrombin deficiency LEXMATCH -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2o LEXMATCH -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2n LEXMATCH -MONDO:0013164 beta-ureidopropionase deficiency skos:exactMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-ureidopropionase deficiency LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic paraplegia type 65 LEXMATCH -MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 45 LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaba transaminase deficiency LEXMATCH -MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gamma-aminobutyric acid transaminase deficiency LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(5)(p13) LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 5p13 LEXMATCH -MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 5p13 microduplication syndrome LEXMATCH -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies LEXMATCH -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency LEXMATCH -MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:exactMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria with optic nerve hypoplasia LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 15q26.3 microdeletion syndrome LEXMATCH -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:exactMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis-short stature-brachydactyly-microspherophakia syndrome LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy with itga7 deficiency LEXMATCH -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital muscular dystrophy with integrin alpha-7 deficiency LEXMATCH -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy due to lmna mutation LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17p13.3 duplication syndrome LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(17)(p13.3) LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17p13.3 LEXMATCH -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17p13.3 microduplication syndrome LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal epithelial dysplasia LEXMATCH -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tufting enteropathy LEXMATCH -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2n LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 3 LEXMATCH -MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal anoctaminopathy LEXMATCH -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:exactMatch Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roifman-chitayat syndrome LEXMATCH -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital plasminogen activator inhibitor type 1 deficiency LEXMATCH -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:exactMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylo-megaepiphyseal-metaphyseal dysplasia LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:exactMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hot water reflex epilepsy LEXMATCH -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:exactMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactylous dwarfism, mseleni type LEXMATCH -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:exactMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, handigodu type LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q23.1q23.2) LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q23.1q23.2 LEXMATCH -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q23.1q23.2 microdeletion syndrome LEXMATCH -MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 41 LEXMATCH -MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 30 LEXMATCH -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic multisystem autoimmune disease due to itch deficiency LEXMATCH -MONDO:0013252 Warsaw breakage syndrome skos:exactMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(15)(q24) LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q24 LEXMATCH -MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 15q24 microdeletion syndrome LEXMATCH -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 16p11.2 microdeletion syndrome LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alx4-related fndag LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniofrontonasal dysplasia with alopecia and hypogonadism LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontonasal dysplasia type 2 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontonasal dysplasia with alopecia and genital abnomality LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alx1-related frontonasal dysplasia LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontonasal dysplasia type 3 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(14)(q11.2) LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q11.2 LEXMATCH -MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 14q11.2 microdeletion syndrome LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal duplication 16p LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal trisomy 16p LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(16)(p13.3) LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 16p LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 16pter LEXMATCH -MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 16p13.3 microduplication syndrome LEXMATCH -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:exactMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to glucophosphate isomerase deficiency LEXMATCH -MONDO:0013276 Reynolds syndrome skos:exactMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reynolds syndrome LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iij LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iij LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iij LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2j LEXMATCH -MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iij LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 15 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type xv LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 15 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type xv LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis with severe cardiomyopathy due to glycogenin deficiency LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 15 LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type xv LEXMATCH -MONDO:0013291 glycogen storage disease XV skos:exactMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd with severe cardiomyopathy due to glycogenin deficiency LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(4)(q21) LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 4q21 LEXMATCH -MONDO:0013292 chromosome 4q21 deletion syndrome skos:exactMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 4q21 microdeletion syndrome LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 8p11 myeloproliferative syndrome LEXMATCH -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:exactMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stem cell leukemia/lymphoma LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(17)(q21.31) LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17q21.31 LEXMATCH -MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:exactMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q21.31 microduplication syndrome LEXMATCH -MONDO:0013300 commissural facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym commissural facial cleft LEXMATCH -MONDO:0013301 aromatase deficiency skos:exactMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatase deficiency LEXMATCH -MONDO:0013304 von Willebrand disease 2 skos:exactMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease type 2 LEXMATCH -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:exactMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 7 LEXMATCH -MONDO:0013308 CBL-related disorder skos:exactMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cbl syndrome LEXMATCH -MONDO:0013308 CBL-related disorder skos:exactMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome-like disorder with jmml LEXMATCH -MONDO:0013308 CBL-related disorder skos:exactMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with juvenile myelomonocytic leukemia LEXMATCH -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency LEXMATCH -MONDO:0013316 occult macular dystrophy skos:exactMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occult macular dystrophy LEXMATCH -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:exactMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsade-de-pointes syndrome with short coupling interval LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(16)(p11.2p12.2) LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 16p11.2p12.2 LEXMATCH -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 16p11.2p12.2 microdeletion syndrome LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:exactMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-posterior choanal atresia syndrome LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iii LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iii LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iii LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2i LEXMATCH -MONDO:0013325 COG5-congenital disorder of glycosylation skos:exactMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iii LEXMATCH -MONDO:0013327 primary hyperoxaluria type 3 skos:exactMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 3 LEXMATCH -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:exactMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to 17q23.1q23.2 microduplication LEXMATCH -MONDO:0013334 cocoon syndrome skos:exactMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal encasement syndrome LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(19)(p13.13) LEXMATCH -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:exactMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 19p13.13 LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type b LEXMATCH -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type b LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic acidemia, tcb1r type LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic acidemia, tcbir type LEXMATCH -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methylmalonic aciduria due to transcobalamin receptor defect LEXMATCH -MONDO:0013342 hereditary spastic paraplegia 48 skos:exactMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 48 LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ip LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ip LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ip LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1p LEXMATCH -MONDO:0013349 ALG11-congenital disorder of glycosylation skos:exactMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ip LEXMATCH -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly LEXMATCH -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-severe speech delay-mild dysmorphism syndrome LEXMATCH -MONDO:0013354 spastic ataxia 4 skos:exactMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 4 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda due to klf1 mutation LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda iv LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 4 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type iv LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia due to klf1 mutation LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 4 LEXMATCH -MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:exactMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 4 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label overgrowth-macrocephaly-facial dysmorphism syndrome LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q11) LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q11 LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 microdeletion syndrome LEXMATCH -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q11 microdeletion syndrome LEXMATCH -MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism type iii LEXMATCH -MONDO:0013360 brachyolmia, Maroteaux type skos:exactMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia, maroteaux type LEXMATCH -MONDO:0013361 congenital prothrombin deficiency skos:exactMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysprothrombinemia LEXMATCH -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:exactMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome LEXMATCH -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:exactMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to ep300 haploinsufficiency LEXMATCH -MONDO:0013368 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mammary-digital-nail syndrome LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kcnq2-nee LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kcnq2-related neonatal epileptic encephalopathy LEXMATCH -MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:exactMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kcnq2-related epileptic encephalopathy LEXMATCH -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2q LEXMATCH -MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukoencephalopathy-dystonia-motor neuropathy syndrome LEXMATCH -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 10 LEXMATCH -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:exactMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 7q11.23 microdeletion syndrome LEXMATCH -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:exactMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly-microcephaly-bilateral congenital cataract syndrome LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(p31p32) LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1p31p32 LEXMATCH -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1p31p32 microdeletion syndrome LEXMATCH -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:exactMatch Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xy sex reversal-adrenal failure LEXMATCH -MONDO:0013408 FADD-related immunodeficiency skos:exactMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fadd-related immunodeficiency LEXMATCH -MONDO:0013417 complement component 3 deficiency skos:exactMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complement component 3 deficiency LEXMATCH -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to masp-2 deficiency LEXMATCH -MONDO:0013424 3p- syndrome skos:exactMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3p- syndrome LEXMATCH -MONDO:0013424 3p- syndrome skos:exactMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 3p LEXMATCH -MONDO:0013424 3p- syndrome skos:exactMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3pter LEXMATCH -MONDO:0013424 3p- syndrome skos:exactMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric monosomy 3p LEXMATCH -MONDO:0013424 3p- syndrome skos:exactMatch Orphanet:1620 Distal deletion 3p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 3p- syndrome LEXMATCH -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysm-osteoarthritis syndrome LEXMATCH -MONDO:0013427 immunodeficiency 31B skos:exactMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stat1 deficiency LEXMATCH -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oxysterol 7-alpha-hydroxylase deficiency LEXMATCH -MONDO:0013439 congenital bile acid synthesis defect 3 skos:exactMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 3 LEXMATCH -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2p LEXMATCH -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multisystemic smooth muscle dysfunction syndrome LEXMATCH -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:exactMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constitutional megaloblastic anemia with severe neurologic disease LEXMATCH -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:exactMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome LEXMATCH -MONDO:0013464 episodic ataxia type 5 skos:exactMatch Orphanet:211067 Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 5 LEXMATCH -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to ficolin3 deficiency LEXMATCH -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal infantile hypertonic myofibrillar myopathy LEXMATCH -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:exactMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plin1-related familial partial lipodystrophy LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(13)(q14) LEXMATCH -MONDO:0013481 chromosome 13q14 deletion syndrome skos:exactMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 13q14 LEXMATCH -MONDO:0013485 spinocerebellar ataxia type 35 skos:exactMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 35 LEXMATCH -MONDO:0013486 spinocerebellar ataxia type 32 skos:exactMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 32 LEXMATCH -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent neisseria infections due to factor d deficiency LEXMATCH -MONDO:0013512 hemoglobin H disease skos:exactMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin h disease LEXMATCH -MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nestor-guillermo progeria syndrome LEXMATCH -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:exactMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bleeding diathesis due to thromboxane synthesis deficiency LEXMATCH -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:exactMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 6 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia due to hepatic lipase deficiency LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia due to hl deficiency LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia due to htgl deficiency LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:exactMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlipidemia due to hepatic triglyceride lipase deficiency LEXMATCH -MONDO:0013536 heme oxygenase 1 deficiency skos:exactMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label heme oxygenase-1 deficiency LEXMATCH -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:exactMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia-failure to thrive-microcephaly syndrome LEXMATCH -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:exactMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-lymphedema-leukemia syndrome LEXMATCH -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:exactMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:exactMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:exactMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency LEXMATCH -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:exactMatch Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy with posterior leg and anterior hand involvement LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia with joint dislocations, gpapp type LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pign deficiency LEXMATCH -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pign-cdg LEXMATCH -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short rib-polydactyly syndrome type 5 LEXMATCH -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 8 LEXMATCH -MONDO:0013571 acatalasia skos:exactMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catalase deficiency LEXMATCH -MONDO:0013571 acatalasia skos:exactMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acatalasemia LEXMATCH -MONDO:0013572 Keppen-Lubinsky syndrome skos:exactMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keppen-lubinsky syndrome LEXMATCH -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent infections associated with rare immunoglobulin isotypes deficiency LEXMATCH -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyrk1a-related intellectual disability syndrome LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental delay due to aldh6a1 deficiency LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental delay due to mmsdh deficiency LEXMATCH -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:exactMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency LEXMATCH -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:exactMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e1-beta deficiency LEXMATCH -MONDO:0013583 occipital pachygyria and polymicrogyria skos:exactMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital pachygyria and polymicrogyria LEXMATCH -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:exactMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory neuropathy-deafness-dementia syndrome LEXMATCH -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:exactMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase h-subunit deficiency LEXMATCH -MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 36 LEXMATCH -MONDO:0013595 hyperbiliverdinemia skos:exactMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbiliverdinemia LEXMATCH -MONDO:0013607 monocytopenia with susceptibility to infections skos:exactMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytopenia with susceptibility to infections LEXMATCH -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:exactMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertelorism-preauricular sinus-punctual pits-deafness syndrome LEXMATCH -MONDO:0013615 craniosynostosis and dental anomalies skos:exactMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kreiborg-pakistani syndrome LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:exactMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrodermatitis continua of hallopeau LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:exactMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deficiency of il-36r antagonist LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:exactMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deficiency of il-36ra LEXMATCH -MONDO:0013640 familial retinal arterial macroaneurysm skos:exactMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial retinal arterial macroaneurysm LEXMATCH -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2o LEXMATCH -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 11 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(8)(q21.11) LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 8q21.11 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 8q21.11 LEXMATCH -MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 8q21.11 microdeletion syndrome LEXMATCH -MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive hyperpigmentation LEXMATCH -MONDO:0013659 microcephaly-capillary malformation syndrome skos:exactMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-capillary malformation syndrome LEXMATCH -MONDO:0013661 combined malonic and methylmalonic acidemia skos:exactMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined malonic and methylmalonic acidemia LEXMATCH -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:exactMatch Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to testicular 17,20-desmolase deficiency LEXMATCH -MONDO:0013668 tetrasomy 18p skos:exactMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 18p LEXMATCH -MONDO:0013673 Wolfram-like syndrome skos:exactMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolfram-like syndrome LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbia due to c19orf12 mutation LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation due to c19orf12 mutation LEXMATCH -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 4 LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bola3 deficiency LEXMATCH -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 2 LEXMATCH -MONDO:0013678 EDICT syndrome skos:exactMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label edict syndrome LEXMATCH -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amacr deficiency LEXMATCH -MONDO:0013686 distal myopathy, Tateyama type skos:exactMatch Orphanet:488650 Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy, tateyama type LEXMATCH -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 12 LEXMATCH -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:exactMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear and whorled nevoid hypermelanosis LEXMATCH -MONDO:0013691 Feingold syndrome type 2 skos:exactMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome type 2 LEXMATCH -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:exactMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bap1-related tumor predisposition syndrome LEXMATCH -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic triacylglycerol lipase deficiency LEXMATCH -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:exactMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome LEXMATCH -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:exactMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosteal sclerosis-cerebellar hypoplasia syndrome LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label graft versus host disease LEXMATCH -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:exactMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome LEXMATCH -MONDO:0013737 hereditary spastic paraplegia 46 skos:exactMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 46 LEXMATCH -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:exactMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal occipital encephalocele-skeletal dysplasia syndrome LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disease type 2p LEXMATCH -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2g LEXMATCH -MONDO:0013755 PYCR1-related de Barsy syndrome skos:exactMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycr1-related de barsy syndrome LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease-nephropathy syndrome LEXMATCH -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type e LEXMATCH -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitf-related melanoma and renal cell carcinoma predisposition syndrome LEXMATCH -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:exactMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome LEXMATCH -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:exactMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood encephalopathy due to thiamine pyrophosphokinase deficiency LEXMATCH -MONDO:0013762 lipoic acid synthetase deficiency skos:exactMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoic acid synthetase deficiency LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical cold urticaria LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold urticaria with common variable immunodeficiency LEXMATCH -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plaid LEXMATCH -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ras-associated autoimmune leukoproliferative disease LEXMATCH -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:exactMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient infantile hypertriglyceridemia and hepatosteatosis LEXMATCH -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:exactMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-hearing loss-severe developmental delay syndrome LEXMATCH -MONDO:0013775 thrombomodulin-related bleeding disorder skos:exactMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombomodulin-related bleeding disorder LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:exactMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome LEXMATCH -MONDO:0013776 spastic ataxia 5 skos:exactMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 5 LEXMATCH -MONDO:0013777 pseudohypoaldosteronism type 2B skos:exactMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2b LEXMATCH -MONDO:0013778 pseudohypoaldosteronism type 2C skos:exactMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2c LEXMATCH -MONDO:0013781 pseudohypoaldosteronism type 2D skos:exactMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2d LEXMATCH -MONDO:0013782 pseudohypoaldosteronism type 2E skos:exactMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2e LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lethal neonatal rigidity-multifocal seizure syndrome LEXMATCH -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:exactMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal neonatal spasticity-epileptic encephalopathy syndrome LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ir LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ir LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ir LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1r LEXMATCH -MONDO:0013789 DDOST-congenital disorder of glycosylation skos:exactMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ir LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(17)(q12) LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17q12 LEXMATCH -MONDO:0013796 chromosome 17q12 duplication syndrome skos:exactMatch Orphanet:261272 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q12 microduplication syndrome LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q12) LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q12 LEXMATCH -MONDO:0013797 chromosome 17q12 deletion syndrome skos:exactMatch Orphanet:261265 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q12 microdeletion syndrome LEXMATCH -MONDO:0013802 infantile cerebellar-retinal degeneration skos:exactMatch Orphanet:313850 Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile cerebellar-retinal degeneration LEXMATCH -MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:exactMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with calcifications and cysts LEXMATCH -MONDO:0013808 Maffucci syndrome skos:exactMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maffucci syndrome LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:exactMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iil LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:exactMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iil LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:exactMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2l LEXMATCH -MONDO:0013810 COG6-ongenital disorder of glycosylation skos:exactMatch Orphanet:464443 COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iil LEXMATCH -MONDO:0013811 combined oxidative phosphorylation defect type 9 skos:exactMatch Orphanet:319509 Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 9 LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perinatal lethal bent bone dysplasia LEXMATCH -MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fgfr2-related bent bone dysplasia LEXMATCH -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:exactMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial steroid-resistant nephrotic syndrome with sensorineural deafness LEXMATCH -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:exactMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-encephaloneuropathy-obesity-valvulopathy syndrome LEXMATCH -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 6 LEXMATCH -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:exactMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome LEXMATCH -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:exactMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal dup(16)(p11.2) LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal trisomy 16p11.2 LEXMATCH -MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:exactMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal 16p11.2 microduplication syndrome LEXMATCH -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant aplasia and myelodysplasia LEXMATCH -MONDO:0013858 pontine tegmental cap dysplasia skos:exactMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontine tegmental cap dysplasia LEXMATCH -MONDO:0013860 idiopathic membranous glomerulonephritis skos:exactMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic membranous glomerulonephritis LEXMATCH -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:exactMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to lrba deficiency LEXMATCH -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:exactMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency LEXMATCH -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenine phosphoribosyltransferase deficiency LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iik LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iik LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iik LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2k LEXMATCH -MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:exactMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iik LEXMATCH -MONDO:0013873 IMAGe syndrome skos:exactMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label image syndrome LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome LEXMATCH -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megdel syndrome LEXMATCH -MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:exactMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial pyruvate carrier deficiency LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:exactMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malan overgrowth syndrome LEXMATCH -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:exactMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soph syndrome LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with internal nuclei and atypical cores LEXMATCH -MONDO:0013892 C3 glomerulonephritis skos:exactMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c3 glomerulonephritis LEXMATCH -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:exactMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome LEXMATCH -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency LEXMATCH -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 13 LEXMATCH -MONDO:0013907 bilateral generalized polymicrogyria skos:exactMatch Orphanet:208447 Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral generalized polymicrogyria LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:exactMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tetrasomy 15(q25-qter) LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:exactMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tetrasomy 15q26 LEXMATCH -MONDO:0013918 distal tetrasomy 15q skos:exactMatch Orphanet:314588 Distal triplication 15q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal tetrasomy 15q LEXMATCH -MONDO:0013922 Seckel syndrome 7 skos:exactMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcephalic primordial dwarfism, dauber type LEXMATCH -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:exactMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia with homocystinuria, type cblj LEXMATCH -MONDO:0013928 dystonia 23 skos:exactMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 23 LEXMATCH -MONDO:0013928 dystonia 23 skos:exactMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 23 LEXMATCH -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:exactMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to stk4 deficiency LEXMATCH -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria LEXMATCH -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammation-plcg2-associated antibody deficiency-immune dysregulation LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn LEXMATCH -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 skos:exactMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label young adult-onset distal hereditary motor neuropathy LEXMATCH -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:exactMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency LEXMATCH -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:exactMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency LEXMATCH -MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:exactMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4f LEXMATCH -MONDO:0013960 sinoatrial node dysfunction and deafness skos:exactMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinoatrial node dysfunction and deafness LEXMATCH -MONDO:0013962 hereditary spastic paraplegia 53 skos:exactMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 53 LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type it LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-it LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1t LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type it LEXMATCH -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoglucomutase-1 deficiency LEXMATCH -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:exactMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 11 LEXMATCH -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:exactMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome LEXMATCH -MONDO:0013972 Perrault syndrome 2 skos:exactMatch Orphanet:642976 Perrault syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perrault syndrome type 2 LEXMATCH -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:exactMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 13 LEXMATCH -MONDO:0013981 myoclonus, familial skos:exactMatch Orphanet:319189 Familial cortical myoclonus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial cortical myoclonus LEXMATCH -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:exactMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 14 LEXMATCH -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:exactMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 15 LEXMATCH -MONDO:0013990 pontocerebellar hypoplasia type 8 skos:exactMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 8 LEXMATCH -MONDO:0013991 obesity due to congenital leptin deficiency skos:exactMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to congenital leptin deficiency LEXMATCH -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:exactMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to leptin receptor gene deficiency LEXMATCH -MONDO:0013993 pontocerebellar hypoplasia type 7 skos:exactMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 7 LEXMATCH -MONDO:0013996 focal facial dermal dysplasia type II skos:exactMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type ii LEXMATCH -MONDO:0013997 focal facial dermal dysplasia type IV skos:exactMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type iv LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:exactMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosah syndrome LEXMATCH -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:exactMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym optic nerve edema-splenomegaly syndrome LEXMATCH -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin-mediated membranoproliferative glomerulonephritis LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schuurs-hoeijmakers syndrome LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome LEXMATCH -MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:exactMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schuurs-hoeijmakers syndrome LEXMATCH -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2q LEXMATCH -MONDO:0014013 maternal riboflavin deficiency skos:exactMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal riboflavin deficiency LEXMATCH -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:exactMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex due to exophilin 5 deficiency LEXMATCH -MONDO:0014015 hereditary spastic paraplegia 56 skos:exactMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 56 LEXMATCH -MONDO:0014016 hereditary spastic paraplegia 49 skos:exactMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic paraplegia type 49 LEXMATCH -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly skos:exactMatch Orphanet:642675 CHD8 overgrowth syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chd8 overgrowth syndrome LEXMATCH -MONDO:0014018 hereditary spastic paraplegia 54 skos:exactMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 54 LEXMATCH -MONDO:0014019 dystonia 24 skos:exactMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 24 LEXMATCH -MONDO:0014019 dystonia 24 skos:exactMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 24 LEXMATCH -MONDO:0014020 hereditary spastic paraplegia 55 skos:exactMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 55 LEXMATCH -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:exactMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome with predominantly upper body involvement LEXMATCH -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:exactMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with intellectual disability and severe epilepsy LEXMATCH -MONDO:0014024 hereditary spastic paraplegia 43 skos:exactMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 43 LEXMATCH -MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:exactMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower motor neuron syndrome with late-adult onset LEXMATCH -MONDO:0014028 distal arthrogryposis type 5D skos:exactMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis type 5d LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alazami syndrome LEXMATCH -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:exactMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microcephalic primordial dwarfism, alazami type LEXMATCH -MONDO:0014033 dystonia 25 skos:exactMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 25 LEXMATCH -MONDO:0014033 dystonia 25 skos:exactMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 25 LEXMATCH -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:exactMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome LEXMATCH -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-progressive spastic diplegia syndrome LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial dna maintenance syndrome due to mgme1 deficiency LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna maintenance syndrome due to mgme1 deficiency LEXMATCH -MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:exactMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peo-myopathy-emaciation syndrome LEXMATCH -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:exactMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism due to znf335 deficiency LEXMATCH -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:exactMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-conductive hearing loss-heart defect syndrome LEXMATCH -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:exactMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-immunodeficiency-livedo-short stature syndrome LEXMATCH -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:exactMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive retinal dystrophy due to retinol transport defect LEXMATCH -MONDO:0014061 Steel syndrome skos:exactMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steel syndrome LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial dna deletion syndrome with limb-girdle weakness LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna deletion syndrome with limb-girdle weakness LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna deletion syndrome with progressive myopathy LEXMATCH -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:exactMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mitochondrial dna deletion syndrome with progressive myopathy LEXMATCH -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:exactMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short ulna-dysmorphism-hypotonia-intellectual disability syndrome LEXMATCH -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:exactMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome LEXMATCH -MONDO:0014070 oculocutaneous albinism type 7 skos:exactMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 7 LEXMATCH -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:exactMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d,l-2-hydroxyglutaric aciduria LEXMATCH -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type f LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cobblestone lissencephaly without muscular or ocular involvement LEXMATCH -MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerotic metaphyseal dysplasia LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to card11 deficiency LEXMATCH -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:exactMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome LEXMATCH -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:exactMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital hypochromic anemia with ringed sideroblasts LEXMATCH -MONDO:0014097 congenital short bowel syndrome skos:exactMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome LEXMATCH -MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:exactMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cidec-related familial partial lipodystrophy LEXMATCH -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:exactMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination with brain stem and spinal cord involvement and leg spasticity LEXMATCH -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b3 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neutropenia-myelofibrosis-nephromegaly syndrome LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-strabismus syndrome LEXMATCH -MONDO:0014127 oculocutaneous albinism type 5 skos:exactMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 5 LEXMATCH -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:exactMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iba57 deficiency LEXMATCH -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 3 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b3galt6-related speds LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b3galt6-related spondylodysplastic eds LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta3galt6-deficient eds LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome progeroid type 2 LEXMATCH -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:exactMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speds-b3galt6 LEXMATCH -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2t LEXMATCH -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:exactMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2s LEXMATCH -MONDO:0014148 estrogen resistance syndrome skos:exactMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label estrogen resistance syndrome LEXMATCH -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:exactMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia-cerebral and retinal hemorrhage syndrome LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type c LEXMATCH -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type c LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mandibular hypoplasia-hearing loss-progeroid syndrome LEXMATCH -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:exactMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mdp syndrome LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 14 LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile-onset spinocerebellar ataxia-psychomotor delay syndrome LEXMATCH -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spectrin-associated autosomal recessive cerebellar ataxia type 1 LEXMATCH -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:exactMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tcr-alpha-beta-positive t-cell deficiency LEXMATCH -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:exactMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hypertrophic cardiomyopathy due to mrpl44 deficiency LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigt deficiency LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcahs type 3 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple congenital anomalies-hypotonia-seizures syndrome type 3 LEXMATCH -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigt-cdg LEXMATCH -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:exactMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to coro1a deficiency LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ihprf syndrome LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hypotonia-psychomotor retardation-characteristic facies syndrome LEXMATCH -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotonia-speech impairment-severe cognitive delay syndrome LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dst-related epidermolysis bullosa simplex LEXMATCH -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:exactMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex due to bp230 deficiency LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(3)(q13) LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3q13 LEXMATCH -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:exactMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3q13 microdeletion syndrome LEXMATCH -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:exactMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 17 LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmcat syndrome LEXMATCH -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:exactMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcornea-myopic chorioretinal atrophy-telecanthus syndrome LEXMATCH -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:exactMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holoprosencephaly-ectrodactyly-cleft lip/palate syndrome LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to malt1 deficiency LEXMATCH -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:exactMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome LEXMATCH -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:exactMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome LEXMATCH -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:exactMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset pulmonary alveolar proteinosis due to mars deficiency LEXMATCH -MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:exactMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2r LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome LEXMATCH -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:exactMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type c LEXMATCH -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:exactMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe dermatitis-multiple allergies-metabolic wasting syndrome LEXMATCH -MONDO:0014221 triosephosphate isomerase deficiency skos:exactMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label triose phosphate-isomerase deficiency LEXMATCH -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:exactMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with autism spectrum disorder and gait instability LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:exactMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fth1-associated iron overload LEXMATCH -MONDO:0014225 hemochromatosis type 5 skos:exactMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fth1-related iron overload LEXMATCH -MONDO:0014226 idiopathic CD4 lymphocytopenia skos:exactMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic cd4 lymphocytopenia LEXMATCH -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:exactMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopigmentation-punctate palmoplantar keratoderma syndrome LEXMATCH -MONDO:0014234 reticulate acropigmentation of Kitamura skos:exactMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticulate acropigmentation of kitamura LEXMATCH -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:exactMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym magel2-related pwls LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schaaf-yang syndrome LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label magel2-related prader-willi-like syndrome LEXMATCH -MONDO:0014243 Schaaf-Yang syndrome skos:exactMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schaaf-yang syndrome LEXMATCH -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 7 LEXMATCH -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:exactMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome with predominantly lower limb involvement LEXMATCH -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:exactMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slc35a3-cdg LEXMATCH -MONDO:0014250 familial hyperprolactinemia skos:exactMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperprolactinemia LEXMATCH -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asparagine synthetase deficiency LEXMATCH -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:exactMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome LEXMATCH -MONDO:0014263 8q24.3 microdeletion syndrome skos:exactMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q24.3 microdeletion syndrome LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to ikk2 deficiency LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to ox40 deficiency LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iw LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iw LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1w LEXMATCH -MONDO:0014270 STT3A-congenital disorder of glycosylation skos:exactMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iw LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ix LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ix LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ix LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1x LEXMATCH -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:exactMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ix LEXMATCH -MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma, nagashima type LEXMATCH -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:exactMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-thin corpus callosum-intellectual disability syndrome LEXMATCH -MONDO:0014274 L-ferritin deficiency skos:exactMatch Orphanet:440731 L-ferritin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l-ferritin deficiency LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to cd3gamma deficiency LEXMATCH -MONDO:0014282 hereditary spastic paraplegia 72 skos:exactMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal spastic paraplegia type 72 LEXMATCH -MONDO:0014289 macrocephaly-developmental delay syndrome skos:exactMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-developmental delay syndrome LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copan LEXMATCH -MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:exactMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation due to coasy mutation LEXMATCH -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:exactMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with mild cerebellar ataxia and white matter edema LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 15q11.2 bp1-bp2 microdeletion syndrome LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(15)(q11.2) LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q11.2 LEXMATCH -MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:exactMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 15q11.2 microdeletion syndrome LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia due to partial tfg deficiency LEXMATCH -MONDO:0014295 hereditary spastic paraplegia 57 skos:exactMatch Orphanet:431329 Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 57 LEXMATCH -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal myopathy with extrapyramidal signs LEXMATCH -MONDO:0014302 hereditary spastic paraplegia 62 skos:exactMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 62 LEXMATCH -MONDO:0014303 hereditary spastic paraplegia 64 skos:exactMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 64 LEXMATCH -MONDO:0014304 hereditary spastic paraplegia 61 skos:exactMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 61 LEXMATCH -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasculitis due to ada2 deficiency LEXMATCH -MONDO:0014309 obesity due to CEP19 deficiency skos:exactMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to cep19 deficiency LEXMATCH -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:exactMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poiktmp syndrome LEXMATCH -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 15 LEXMATCH -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:exactMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity LEXMATCH -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:exactMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome LEXMATCH -MONDO:0014317 pancytopenia-developmental delay syndrome skos:exactMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia-developmental delay syndrome LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bosch-boonstra-schaaf optic atrophy syndrome LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy-intellectual disability syndrome LEXMATCH -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bosch-boonstra-schaaf optic atrophy syndrome LEXMATCH -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:exactMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering LEXMATCH -MONDO:0014331 Moyamoya disease with early-onset achalasia skos:exactMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease with early-onset achalasia LEXMATCH -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:exactMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperammonemic encephalopathy due to carbonic anhydrase va deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to lck deficiency LEXMATCH -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:exactMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency LEXMATCH -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label il21-related infantile inflammatory bowel disease LEXMATCH -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia autosomal recessive type 16 LEXMATCH -MONDO:0014342 female infertility due to zona pellucida defect skos:exactMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility due to zona pellucida defect LEXMATCH -MONDO:0014349 pontocerebellar hypoplasia type 10 skos:exactMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 10 LEXMATCH -MONDO:0014351 pontocerebellar hypoplasia type 9 skos:exactMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 9 LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:exactMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to pgm3 deficiency LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:exactMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to pgm3 deficiency LEXMATCH -MONDO:0014353 immunodeficiency 23 skos:exactMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pgm3-cdg LEXMATCH -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:exactMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xia-gibbs syndrome LEXMATCH -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:exactMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autism spectrum disorder due to auts2 deficiency LEXMATCH -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:exactMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome LEXMATCH -MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:exactMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital chronic diarrhea with exudative enteropathy LEXMATCH -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:exactMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital chronic diarrhea with protein-losing enteropathy LEXMATCH -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous microphthalmia-rhizomelic dysplasia syndrome LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tjp2 deficit LEXMATCH -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive familial intrahepatic cholestasis type 4 LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dnmt3a-related overgrowth syndrome LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome LEXMATCH -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome skos:exactMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency LEXMATCH -MONDO:0014386 platelet-type bleeding disorder 18 skos:exactMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bleeding disorder due to caldag-gefi deficiency LEXMATCH -MONDO:0014388 familial median cleft of the upper and lower lips skos:exactMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial median cleft of the upper and lower lips LEXMATCH -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyglucosan body myopathy type 1 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to ctps1 deficiency LEXMATCH -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:exactMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 20 LEXMATCH -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:exactMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 21 LEXMATCH -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:exactMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tall stature-scoliosis-macrodactyly of the halluces syndrome LEXMATCH -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:exactMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neurodegenerative syndrome with lipodystrophy LEXMATCH -MONDO:0014403 short stature due to GHSR deficiency skos:exactMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to ghsr deficiency LEXMATCH -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:exactMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sting-associated vasculopathy with onset in infancy LEXMATCH -MONDO:0014410 spinocerebellar ataxia type 37 skos:exactMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 37 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 14 LEXMATCH -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:exactMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stat3-related early-onset multisystem autoimmune disease LEXMATCH -MONDO:0014417 spinocerebellar ataxia type 38 skos:exactMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 38 LEXMATCH -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:exactMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poretti-boltshauser syndrome LEXMATCH -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:exactMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to primary acid-labile subunit deficiency LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to dna-pkcs deficiency LEXMATCH -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency LEXMATCH -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:exactMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipe-related familial partial lipodystrophy LEXMATCH -MONDO:0014449 congenital analbuminemia skos:exactMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital analbuminemia LEXMATCH -MONDO:0014452 familial dysfibrinogenemia skos:exactMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial dysfibrinogenemia LEXMATCH -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:exactMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to jagn1 deficiency LEXMATCH -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:exactMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome LEXMATCH -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:exactMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive encephalopathy with leukodystrophy due to decr deficiency LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoserine aminotransferase deficiency, prenatal form LEXMATCH -MONDO:0014466 Neu-Laxova syndrome 2 skos:exactMatch Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neu-laxova syndrome due to phosphoserine aminotransferase deficiency LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type d LEXMATCH -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type d LEXMATCH -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever-infantile enterocolitis-autoinflammatory syndrome LEXMATCH -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2u LEXMATCH -MONDO:0014475 spinocerebellar ataxia type 40 skos:exactMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 40 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:exactMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym episodic ataxia type 8 LEXMATCH -MONDO:0014476 episodic ataxia type 8 skos:exactMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic ataxia type 8 LEXMATCH -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:exactMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies LEXMATCH -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:exactMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-girdle muscular dystrophy due to pomk deficiency LEXMATCH -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:exactMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ketoacidosis due to monocarboxylate transporter-1 deficiency LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratoderma with woolly hair type iv LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kwwh type iv LEXMATCH -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym woolly hair-palmoplantar hyperkeratosis syndrome LEXMATCH -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:exactMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency LEXMATCH -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:exactMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome LEXMATCH -MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:exactMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyendocrine-polyneuropathy syndrome LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome 4 LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nlrc4-related familial cold autoinflammatory syndrome LEXMATCH -MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:exactMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome 4 LEXMATCH -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:exactMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency LEXMATCH -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia autosomal recessive type 17 LEXMATCH -MONDO:0014506 hypomyelinating leukodystrophy 9 skos:exactMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rars-related autosomal recessive hypomyelinating leukodystrophy LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:exactMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catel-manzke syndrome LEXMATCH -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:exactMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatty acyl-coa reductase 1 deficiency LEXMATCH -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disease type 2s LEXMATCH -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:exactMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation LEXMATCH -MONDO:0014518 platelet-type bleeding disorder 19 skos:exactMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe autosomal recessive macrothrombocytopenia LEXMATCH -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:exactMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx ovarian dysgenesis-short stature syndrome LEXMATCH -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:exactMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 7 LEXMATCH -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:exactMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome LEXMATCH -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 23 LEXMATCH -MONDO:0014526 polyglucosan body myopathy type 2 skos:exactMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyglucosan body myopathy type 2 LEXMATCH -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:exactMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid features-hepatocellular carcinoma predisposition syndrome LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caid syndrome LEXMATCH -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:exactMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic atrial dysrhythmia-intestinal motility disorder LEXMATCH -MONDO:0014529 cerebellar-facial-dental syndrome skos:exactMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar-facial-dental syndrome LEXMATCH -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency LEXMATCH -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:exactMatch Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mitochondrial myopathy with exercise intolerance LEXMATCH -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:exactMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 8 LEXMATCH -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:exactMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy due to calsequestrin and serca1 protein overload LEXMATCH -MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:exactMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 24 LEXMATCH -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:exactMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome LEXMATCH -MONDO:0014555 peeling skin syndrome type A skos:exactMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peeling skin syndrome type a LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome LEXMATCH -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome LEXMATCH -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:exactMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome LEXMATCH -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:exactMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:exactMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-methylglutaconic aciduria type 7 LEXMATCH -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:exactMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation LEXMATCH -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2u LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome LEXMATCH -MONDO:0014568 hereditary spastic paraplegia 73 skos:exactMatch Orphanet:444099 Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 73 LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lichtenstein-knorr syndrome LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive autosomal recessive ataxia-sensorineural hearing loss syndrome LEXMATCH -MONDO:0014572 Lichtenstein-Knorr syndrome skos:exactMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lichtenstein-knorr syndrome LEXMATCH -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:exactMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plack syndrome LEXMATCH -MONDO:0014576 lipoyl transferase 1 deficiency skos:exactMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoyl transferase 1 deficiency LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 20 LEXMATCH -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome LEXMATCH -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:exactMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome LEXMATCH -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome LEXMATCH -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:exactMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome LEXMATCH -MONDO:0014608 mandibulofacial dysostosis with alopecia skos:exactMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis with alopecia LEXMATCH -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:exactMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chops syndrome LEXMATCH -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 4 LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal non-epidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0014626 spinocerebellar ataxia type 41 skos:exactMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 41 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune interstitial lung disease-arthritis syndrome LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nthl1-related afap LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nthl1-related attenuated fap LEXMATCH -MONDO:0014630 familial adenomatous polyposis 3 skos:exactMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nthl1-related attenuated familial adenomatous polyposis LEXMATCH -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:exactMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 25 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:exactMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dock2 deficiency LEXMATCH -MONDO:0014645 BENTA disease skos:exactMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benta disease LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iz LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iz LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iz LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1z LEXMATCH -MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:exactMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cad-cdg LEXMATCH -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:exactMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe achondroplasia-developmental delay-acanthosis nigricans syndrome LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type viii LEXMATCH -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:exactMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary sensory and autonomic neuropathy type 8 LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary adult-onset painful axonal polyneuropathy LEXMATCH -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2v LEXMATCH -MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:exactMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 26 LEXMATCH -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:exactMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 9 LEXMATCH -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:exactMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil anomaly-myopathy-facial dysmorphism syndrome LEXMATCH -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:exactMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome LEXMATCH +MONDO:0011208 malignant atrophic papulosis skos:exactMatch Orphanet:656071 Atrophic papulosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym degos disease LEXMATCH +MONDO:0011208 malignant atrophic papulosis skos:exactMatch Orphanet:656071 Atrophic papulosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym köhlmeier-degos disease LEXMATCH +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early onset familial encephalopathy with neuroserpin inclusion bodies LEXMATCH +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive myoclonic epilepsy with neuroserpin inclusion bodies LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency LEXMATCH MONDO:0014700 Au-Kline syndrome skos:exactMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label okamoto syndrome LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym au-kline syndrome LEXMATCH -MONDO:0014700 Au-Kline syndrome skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym au-kline syndrome LEXMATCH -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:exactMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, stanescu type LEXMATCH -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:exactMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ar-spg9b LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kosaki overgrowth syndrome LEXMATCH -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:exactMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome LEXMATCH -MONDO:0014707 14q32 duplication syndrome skos:exactMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q32 duplication syndrome LEXMATCH -MONDO:0014708 ring chromosome 14 skos:exactMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 14 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency LEXMATCH -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:exactMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2w LEXMATCH -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:exactMatch Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive microcephaly-seizures-cortical blindness-developmental delay syndrome LEXMATCH -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection LEXMATCH -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome LEXMATCH -MONDO:0014717 early-onset Lafora body disease skos:exactMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset lafora body disease LEXMATCH -MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy plus syndrome LEXMATCH -MONDO:0014722 Roifman syndrome skos:exactMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label roifman syndrome LEXMATCH -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:exactMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pmp22-rai1 contiguous gene duplication syndrome LEXMATCH -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:exactMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome LEXMATCH -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation LEXMATCH -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 27 LEXMATCH -MONDO:0014729 hereditary spastic paraplegia 75 skos:exactMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 75 LEXMATCH -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:exactMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seizures-scoliosis-macrocephaly syndrome LEXMATCH -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:exactMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps11-related autosomal recessive hypomyelinating leukoencephalopathy LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease type 4k LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym surf1-related cmt4 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym surf1-related severe demyelinating charcot-marie-tooth disease LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label surf1-related charcot-marie-tooth disease type 4 LEXMATCH -MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:exactMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disease type 4k LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation LEXMATCH -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:exactMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2 due to vcp mutation LEXMATCH -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation LEXMATCH -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:exactMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome due to wac point mutation LEXMATCH -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 5 LEXMATCH -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:exactMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome LEXMATCH -MONDO:0014746 SLC39A8-CDG skos:exactMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc39a8-cdg LEXMATCH -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:exactMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome LEXMATCH -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:exactMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome LEXMATCH -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome LEXMATCH -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency LEXMATCH -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:exactMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-severe developmental delay-epilepsy syndrome LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined oxidative phosphorylation defect type 28 LEXMATCH -MONDO:0014775 combined oxidative phosphorylation deficiency 28 skos:exactMatch Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal severe cardiopulmonary failure due to mitochondrial methylation defect LEXMATCH -MONDO:0014776 spinocerebellar ataxia type 42 skos:exactMatch Orphanet:458803 Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 42 LEXMATCH -MONDO:0014778 Lamb-Shaffer syndrome skos:exactMatch Orphanet:530983 Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamb-shaffer syndrome LEXMATCH -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome LEXMATCH -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:exactMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome LEXMATCH -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:exactMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome LEXMATCH -MONDO:0014789 CCDC115-CDG skos:exactMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ccdc115-cdg LEXMATCH -MONDO:0014790 TMEM199-CDG skos:exactMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tmem199-cdg LEXMATCH -MONDO:0014791 Luscan-Lumish syndrome skos:exactMatch Orphanet:597738 Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label luscan-lumish syndrome LEXMATCH -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:exactMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-congenital cataract-psoriasiform dermatitis syndrome LEXMATCH -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy skos:exactMatch Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive scapulohumeroperoneal distal myopathy LEXMATCH -MONDO:0014801 even-plus syndrome skos:exactMatch Orphanet:496751 EVEN-plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label even-plus syndrome LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood-onset spasticity with variant non-ketotic hyperglycinemia LEXMATCH -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome skos:exactMatch Orphanet:401866 Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spasticity-ataxia-gait anomalies syndrome LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:exactMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glrx5-related sideroblastic anemia LEXMATCH -MONDO:0014804 sideroblastic anemia 3 skos:exactMatch Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset autosomal recessive sideroblastic anemia LEXMATCH -MONDO:0014805 Hao-Fountain syndrome skos:exactMatch Orphanet:643549 Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hao-fountain syndrome LEXMATCH -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:exactMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ddx41-related hematologic malignancy predisposition syndrome LEXMATCH -MONDO:0014810 pancytopenia due to IKZF1 mutations skos:exactMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia due to ikzf1 mutations LEXMATCH -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:exactMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split-foot malformation-mesoaxial polydactyly syndrome LEXMATCH -MONDO:0014821 complex lethal osteochondrodysplasia skos:exactMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex lethal osteochondrodysplasia LEXMATCH -MONDO:0014822 15q14 microdeletion syndrome skos:exactMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q14 microdeletion syndrome LEXMATCH -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:exactMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tbck-related intellectual disability syndrome LEXMATCH -MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:exactMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 76 LEXMATCH -MONDO:0014830 platelet-type bleeding disorder 20 skos:exactMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant thrombocytopenia with platelet secretion defect LEXMATCH -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:exactMatch Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid and marfanoid aspect-lipodystrophy syndrome LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigg deficiency LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigg-cdg LEXMATCH -MONDO:0014832 intellectual disability, autosomal recessive 53 skos:exactMatch Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early-onset epilepsy-intellectual disability-brain anomalies syndrome LEXMATCH -MONDO:0014837 thrombocytopenia 6 skos:exactMatch Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary thrombocytopenia with early-onset myelofibrosis LEXMATCH -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 skos:exactMatch Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia autosomal recessive type 23 LEXMATCH -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telo2-related intellectual disability-neurodevelopmental disorder LEXMATCH -MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:exactMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 30 LEXMATCH -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rere-related neurodevelopmental syndrome LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to csf3r deficiency LEXMATCH -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dnajb2-related cmt2 LEXMATCH -MONDO:0014867 spinocerebellar ataxia 43 skos:exactMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 43 LEXMATCH -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:exactMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome LEXMATCH -MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:exactMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nek9-related lethal skeletal dysplasia LEXMATCH -MONDO:0014873 nevus comedonicus syndrome skos:exactMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus comedonicus syndrome LEXMATCH -MONDO:0014875 hyperaldosteronism, familial, type IV skos:exactMatch Orphanet:642671 Familial hyperaldosteronism type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type iv LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adssl1-related distal myopathy LEXMATCH -MONDO:0014877 myopathy, distal, 5 skos:exactMatch Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenylosuccinate synthetase-like 1-related distal myopathy LEXMATCH -MONDO:0014881 transketolase deficiency skos:exactMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transketolase deficiency LEXMATCH -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nr1h4 deficiency LEXMATCH -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:exactMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome LEXMATCH -MONDO:0014888 MIRAGE syndrome skos:exactMatch Orphanet:494433 MIRAGE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirage syndrome LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenk-ploski syndrome LEXMATCH -MONDO:0014889 striatonigral degeneration, childhood-onset skos:exactMatch Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label childhood-onset basal ganglia degeneration syndrome LEXMATCH -MONDO:0014890 PERCHING syndrome skos:exactMatch Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perching syndrome LEXMATCH -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome skos:exactMatch Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome LEXMATCH -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:exactMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset multiple mtdna deletion syndrome due to dguok deficiency LEXMATCH -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 skos:exactMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive muscular dystrophy due to lap1b deficiency LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy with progressive weakness, distal contractures and rigid spine LEXMATCH -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2y LEXMATCH -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome LEXMATCH -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset periodic fever-panniculitis-dermatosis syndrome LEXMATCH -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome LEXMATCH -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome LEXMATCH -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:exactMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tall stature-intellectual disability-renal anomalies syndrome LEXMATCH -MONDO:0014920 patterned macular dystrophy 3 skos:exactMatch Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label martinique crinkled retinal pigment epitheliopathy LEXMATCH -MONDO:0014936 ZTTK syndrome skos:exactMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zttk syndrome LEXMATCH -MONDO:0014936 ZTTK syndrome skos:exactMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym zttk syndrome LEXMATCH -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:exactMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-brachydactyly-obesity-global developmental delay syndrome LEXMATCH -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:exactMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-epilepsy-extrapyramidal syndrome LEXMATCH -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnb5-related intellectual disability-cardiac arrhythmia syndrome LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:exactMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym harel-yoon syndrome LEXMATCH -MONDO:0014958 Harel-Yoon syndrome skos:exactMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym harel-yoon syndrome LEXMATCH -MONDO:0014969 isolated sedoheptulokinase deficiency skos:exactMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sedoheptulokinase deficiency LEXMATCH -MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:exactMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 78 LEXMATCH -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:exactMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2z LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2z LEXMATCH -MONDO:0015010 atypical glycine encephalopathy skos:exactMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical glycine encephalopathy LEXMATCH -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:exactMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders LEXMATCH -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:exactMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym commad syndrome LEXMATCH -MONDO:0015027 familial isolated hyperparathyroidism skos:exactMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hyperparathyroidism LEXMATCH -MONDO:0015028 48,XXYY syndrome skos:exactMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xxyy syndrome LEXMATCH -MONDO:0015029 reticular perineurioma skos:exactMatch Orphanet:100000 Reticular perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular perineurioma LEXMATCH -MONDO:0015030 sclerosing perineurioma skos:exactMatch Orphanet:100001 Sclerosing perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing perineurioma LEXMATCH -MONDO:0015031 extraneural perineurioma skos:exactMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraneural perineurioma LEXMATCH -MONDO:0015032 intraneural perineurioma skos:exactMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraneural perineurioma LEXMATCH -MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, dutch type LEXMATCH -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A skos:exactMatch Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type a LEXMATCH -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B skos:exactMatch Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type b LEXMATCH -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C skos:exactMatch Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type c LEXMATCH -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D skos:exactMatch Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type d LEXMATCH -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E skos:exactMatch Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type e LEXMATCH -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F skos:exactMatch Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type f LEXMATCH -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:exactMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym raeb-1 LEXMATCH -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:exactMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym raeb-2 LEXMATCH -MONDO:0015042 primary plasmacytoma of the bone skos:exactMatch Orphanet:100021 Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary plasmacytoma of the bone LEXMATCH -MONDO:0015043 extramedullary soft tissue plasmacytoma skos:exactMatch Orphanet:100022 Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary soft tissue plasmacytoma LEXMATCH -MONDO:0015044 mu-heavy chain disease skos:exactMatch Orphanet:100024 Mu-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mu-heavy chain disease LEXMATCH -MONDO:0015045 alpha-heavy chain disease skos:exactMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-heavy chain disease LEXMATCH -MONDO:0015046 gamma-heavy chain disease skos:exactMatch Orphanet:100026 Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gamma-heavy chain disease LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:exactMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypoplastic amelogenesis imperfecta LEXMATCH -MONDO:0015047 amelogenesis imperfecta type 1 skos:exactMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta type 1 LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypomaturation amelogenesis imperfecta LEXMATCH -MONDO:0015048 amelogenesis imperfecta type 2 skos:exactMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta type 2 LEXMATCH -MONDO:0015049 solitary necrotic nodule of the liver skos:exactMatch Orphanet:100035 Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary necrotic nodule of the liver LEXMATCH -MONDO:0015050 esophageal duplication cyst skos:exactMatch Orphanet:100047 Esophageal duplication cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal duplication cyst LEXMATCH -MONDO:0015051 tubular duplication of the esophagus skos:exactMatch Orphanet:100048 Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubular duplication of the esophagus LEXMATCH -MONDO:0015053 hereditary angioedema type 1 skos:exactMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema type 1 LEXMATCH -MONDO:0015054 hereditary angioedema type 2 skos:exactMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema type 2 LEXMATCH -MONDO:0015055 acquired angioedema type 2 skos:exactMatch Orphanet:100055 Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema type 2 LEXMATCH -MONDO:0015056 acquired angioedema type 1 skos:exactMatch Orphanet:100056 Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema type 1 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:exactMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renin-angiotensin-aldosterone system-blocker-induced angioedema LEXMATCH -MONDO:0015059 progressive non-fluent aphasia skos:exactMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia LEXMATCH -MONDO:0015060 mosaic trisomy 3 skos:exactMatch Orphanet:100071 Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 3 LEXMATCH -MONDO:0015061 neurogenic thoracic outlet syndrome skos:exactMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurogenic thoracic outlet syndrome LEXMATCH -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric net LEXMATCH -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric neuroendocrine tumor LEXMATCH -MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100076 Duodenal neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label duodenal neuroendocrine tumor LEXMATCH -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jejunal neuroendocrine neoplasm LEXMATCH -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ileal neuroendocrine neoplasm LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym appendiceal nen LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym appendiceal neuroendocrine neoplasm LEXMATCH -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nen of appendix LEXMATCH -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colonic net LEXMATCH -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the colon LEXMATCH -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumor LEXMATCH -MONDO:0015069 neuroendocrine tumor of the anal canal skos:exactMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of anal canal LEXMATCH -MONDO:0015071 middle ear neuroendocrine tumor skos:exactMatch Orphanet:100084 Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle ear neuroendocrine tumor LEXMATCH -MONDO:0015072 liver neuroendocrine carcinoma skos:exactMatch Orphanet:100085 Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hepatic neuroendocrine carcinoma LEXMATCH -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 skos:exactMatch Orphanet:100086 Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gallbladder neuroendocrine tumor LEXMATCH -MONDO:0015079 multiple polyglandular tumor skos:exactMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple polyglandular tumor LEXMATCH -MONDO:0015082 alopecia antibody deficiency skos:exactMatch Orphanet:1006 Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia antibody deficiency LEXMATCH -MONDO:0015084 FRAXF syndrome skos:exactMatch Orphanet:100974 FRAXF syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraxf syndrome LEXMATCH -MONDO:0015085 bathing suit ichthyosis skos:exactMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bathing suit ichthyosis LEXMATCH -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome skos:exactMatch Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloverleaf skull-asphyxiating thoracic dysplasia syndrome LEXMATCH -MONDO:0015087 autosomal dominant complex spastic paraplegia skos:exactMatch Orphanet:100979 Autosomal dominant complex spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant complex spastic paraplegia LEXMATCH -MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataracts-motor neuropathy-short stature-skeletal anomalies syndrome LEXMATCH -MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome LEXMATCH -MONDO:0015092 cleft hard palate skos:exactMatch Orphanet:101023 Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate LEXMATCH -MONDO:0015093 sub-cortical nodular heterotopia skos:exactMatch Orphanet:101029 Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sub-cortical nodular heterotopia LEXMATCH -MONDO:0015094 subependymal nodular heterotopia skos:exactMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymal nodular heterotopia LEXMATCH -MONDO:0015096 familial hypofibrinogenemia skos:exactMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypofibrinogenemia LEXMATCH -MONDO:0015099 unilateral hemispheric polymicrogyria skos:exactMatch Orphanet:101071 Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral hemispheric polymicrogyria LEXMATCH -MONDO:0015100 aregenerative anemia skos:exactMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aregenerative anemia LEXMATCH -MONDO:0015101 Marin-Amat syndrome skos:exactMatch Orphanet:101104 Marin-Amat syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marin-amat syndrome LEXMATCH -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome skos:exactMatch Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome LEXMATCH -MONDO:0015104 porphyria cutanea tarda skos:exactMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda LEXMATCH -MONDO:0015126 polyendocrinopathy skos:exactMatch Orphanet:101956 Polyendocrinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyendocrinopathy LEXMATCH -MONDO:0015127 pituitary deficiency skos:exactMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary deficiency LEXMATCH -MONDO:0015128 primary adrenal insufficiency skos:exactMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary adrenal insufficiency LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:101959 Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic primary adrenal insufficiency LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disease LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis LEXMATCH -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addison disease LEXMATCH -MONDO:0015134 constitutional neutropenia skos:exactMatch Orphanet:101987 Constitutional neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constitutional neutropenia LEXMATCH -MONDO:0015137 periodic fever syndrome skos:exactMatch Orphanet:101995 Periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever syndrome LEXMATCH -MONDO:0015140 early-onset autosomal dominant Alzheimer disease skos:exactMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autosomal dominant alzheimer disease LEXMATCH -MONDO:0015146 classic lissencephaly skos:exactMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic lissencephaly LEXMATCH -MONDO:0015148 lissencephaly type 3 skos:exactMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 LEXMATCH -MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure hereditary spastic paraplegia LEXMATCH -MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch Orphanet:102013 Complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex hereditary spastic paraplegia LEXMATCH -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant limb-girdle muscular dystrophy LEXMATCH -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy LEXMATCH -MONDO:0015157 human herpesvirus 8-related tumor skos:exactMatch Orphanet:102024 Human herpesvirus 8-related disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hhv-8-related disorder LEXMATCH -MONDO:0015158 unexplained periodic fever syndrome skos:exactMatch Orphanet:102237 Unexplained periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unexplained periodic fever syndrome LEXMATCH -MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome-intellectual disability LEXMATCH -MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome without intellectual disability LEXMATCH -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent skos:exactMatch Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent LEXMATCH -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor skos:exactMatch Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor LEXMATCH -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation skos:exactMatch Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(8;21)(q22;q22) translocation LEXMATCH -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ring constrictions LEXMATCH -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constriction band syndrome LEXMATCH -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streeter dysplasia LEXMATCH -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constriction rings syndrome LEXMATCH -MONDO:0015167 amniotic band syndrome skos:exactMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amniotic band syndrome LEXMATCH -MONDO:0015168 arthrogryposis multiplex congenita skos:exactMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita LEXMATCH -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic diarrhea due to glucoamylase deficiency LEXMATCH -MONDO:0015170 congenital sodium diarrhea skos:exactMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sodium diarrhea LEXMATCH -MONDO:0015171 congenital enterocyte heparan sulfate deficiency skos:exactMatch Orphanet:103910 Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enterocyte heparan sulfate deficiency LEXMATCH -MONDO:0015175 autoimmune pancreatitis skos:exactMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis LEXMATCH -MONDO:0015176 undetermined colitis skos:exactMatch Orphanet:103920 Undetermined colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undetermined colitis LEXMATCH -MONDO:0015177 metaphyseal anadysplasia skos:exactMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal anadysplasia LEXMATCH -MONDO:0015183 short bowel syndrome skos:exactMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short bowel syndrome LEXMATCH -MONDO:0015185 intestinal polyposis syndrome skos:exactMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal polyposis syndrome LEXMATCH -MONDO:0015191 myopathic intestinal pseudoobstruction skos:exactMatch Orphanet:104077 Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathic intestinal pseudoobstruction LEXMATCH -MONDO:0015193 hydrops fetalis skos:exactMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops fetalis LEXMATCH -MONDO:0015194 sideroblastic anemia skos:exactMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sideroblastic anemia LEXMATCH -MONDO:0015195 atresia of urethra skos:exactMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atresia of urethra LEXMATCH -MONDO:0015196 vein of Galen aneurysm skos:exactMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vein of galen arteriovenous malformations LEXMATCH -MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch Orphanet:1054 Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysm of sinus of valsalva LEXMATCH -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome skos:exactMatch Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-ptosis-intellectual disability-familial obesity syndrome LEXMATCH -MONDO:0015199 aniridia - intellectual disability syndrome skos:exactMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym walker-dyson syndrome LEXMATCH -MONDO:0015200 anisakiasis skos:exactMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis LEXMATCH -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:exactMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aughton-hufnagle syndrome LEXMATCH -MONDO:0015203 coronary artery congenital malformation skos:exactMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary artery congenital malformation LEXMATCH -MONDO:0015204 microlissencephaly skos:exactMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly LEXMATCH -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects skos:exactMatch Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated lissencephaly type 1 without known genetic defects LEXMATCH -MONDO:0015209 non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic gastroduodenal malformation LEXMATCH -MONDO:0015210 syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic gastroduodenal malformation LEXMATCH -MONDO:0015211 non-syndromic intestinal malformation skos:exactMatch Orphanet:108967 Non-syndromic intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic intestinal malformation LEXMATCH -MONDO:0015212 syndromic intestinal malformation skos:exactMatch Orphanet:108969 Syndromic intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic intestinal malformation LEXMATCH -MONDO:0015213 non-syndromic visceral malformation skos:exactMatch Orphanet:108971 Non-syndromic visceral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic visceral malformation LEXMATCH -MONDO:0015214 syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic visceral malformation LEXMATCH -MONDO:0015221 non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic respiratory or mediastinal malformation LEXMATCH -MONDO:0015222 syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic respiratory or mediastinal malformation LEXMATCH -MONDO:0015225 arthrogryposis syndrome skos:exactMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis syndrome LEXMATCH -MONDO:0015227 non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic limb malformation LEXMATCH -MONDO:0015228 pentasomy X skos:exactMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentasomy x LEXMATCH -MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome LEXMATCH -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome skos:exactMatch Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome LEXMATCH -MONDO:0015231 Bartter syndrome skos:exactMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartter syndrome LEXMATCH -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome skos:exactMatch Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial deficiency-tibial hypoplasia syndrome LEXMATCH -MONDO:0015233 caudal appendage-deafness syndrome skos:exactMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal appendage-deafness syndrome LEXMATCH -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:exactMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnodactyly-abnormal ossification-intellectual disability syndrome LEXMATCH -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome skos:exactMatch Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnodactyly-intellectual disability-dysmorphism syndrome LEXMATCH -MONDO:0015236 aortic arch defects skos:exactMatch Orphanet:1132 Aortic arch defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch defects LEXMATCH -MONDO:0015237 arrhinia skos:exactMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nose agenesis LEXMATCH -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:exactMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arrhinia-choanal atresia-microphthalmia syndrome LEXMATCH -MONDO:0015239 abnormal origin of the pulmonary artery skos:exactMatch Orphanet:1138 Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abnormal origin of the pulmonary artery LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kuskokwim disease LEXMATCH -MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like syndrome LEXMATCH -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:exactMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic bronchopulmonary aspergillosis LEXMATCH -MONDO:0015244 autosomal recessive cerebellar ataxia skos:exactMatch Orphanet:1172 Autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebellar ataxia LEXMATCH -MONDO:0015246 syndromic anorectal malformation skos:exactMatch Orphanet:117573 Syndromic anorectal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic anorectal malformation LEXMATCH -MONDO:0015247 opsoclonus-myoclonus syndrome skos:exactMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opsoclonus-myoclonus syndrome LEXMATCH -MONDO:0015248 ataxia-photosensitivity-short stature syndrome skos:exactMatch Orphanet:1184 Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-photosensitivity-short stature syndrome LEXMATCH -MONDO:0015249 mitral atresia disorder skos:exactMatch Orphanet:1205 Mitral atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitral atresia LEXMATCH -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:exactMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal atrophy-ophthalmoplegia-pyramidal syndrome LEXMATCH -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome skos:exactMatch Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome LEXMATCH -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch Orphanet:124 Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia LEXMATCH -MONDO:0015254 schistosomiasis skos:exactMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schistosomiasis LEXMATCH -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome skos:exactMatch Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-mesomelia-intellectual disability-heart defects syndrome LEXMATCH -MONDO:0015260 diphyllobothriasis skos:exactMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis LEXMATCH -MONDO:0015261 pseudopelade of Brocq skos:exactMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudopelade of brocq LEXMATCH -MONDO:0015262 brachyolmia skos:exactMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia LEXMATCH -MONDO:0015263 Brugada syndrome skos:exactMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brugada syndrome LEXMATCH -MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic organizing pneumonia LEXMATCH -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constrictive bronchiolitis LEXMATCH -MONDO:0015267 Feingold syndrome skos:exactMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome LEXMATCH -MONDO:0015268 medullary sponge kidney skos:exactMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medullary sponge kidney LEXMATCH -MONDO:0015269 symmetrical thalamic calcifications skos:exactMatch Orphanet:1314 Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symmetrical thalamic calcifications LEXMATCH -MONDO:0015270 butyrylcholinesterase deficiency skos:exactMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label butyrylcholinesterase deficiency LEXMATCH -MONDO:0015271 idiopathic camptocormia skos:exactMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic camptocormia LEXMATCH -MONDO:0015272 camptodactyly-taurinuria syndrome skos:exactMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly-taurinuria syndrome LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:exactMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete atrioventricular septal defect LEXMATCH -MONDO:0015273 complete atrioventricular canal skos:exactMatch Orphanet:1329 Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complete atrioventricular canal LEXMATCH -MONDO:0015274 chronic beryllium disease skos:exactMatch Orphanet:133 Chronic beryllium disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic beryllium disease LEXMATCH -MONDO:0015275 partial atrioventricular canal skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial atrioventricular canal defect LEXMATCH -MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary thyroid carcinoma LEXMATCH -MONDO:0015278 familial pancreatic carcinoma skos:exactMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pancreatic carcinoma LEXMATCH -MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic mucocutaneous candidiasis LEXMATCH -MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiofaciocutaneous syndrome LEXMATCH -MONDO:0015281 atrial standstill skos:exactMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill LEXMATCH -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:exactMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy-cataract-hip spine disease syndrome LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:exactMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited cardiomyopathy and deafness LEXMATCH -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss skos:exactMatch Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trna-lys-related cardiomyopathy-hearing loss syndrome LEXMATCH -MONDO:0015284 heart-hand syndrome type 2 skos:exactMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome type 2 LEXMATCH -MONDO:0015285 Carney complex skos:exactMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney complex LEXMATCH -MONDO:0015286 congenital disorder of glycosylation skos:exactMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of glycosylation LEXMATCH -MONDO:0015289 infectious epithelial keratitis skos:exactMatch Orphanet:137593 Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious epithelial keratitis LEXMATCH -MONDO:0015290 neurotrophic keratopathy skos:exactMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurotrophic keratopathy LEXMATCH -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome skos:exactMatch Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome LEXMATCH -MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis LEXMATCH -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome skos:exactMatch Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intractable diarrhea-choanal atresia-eye anomalies syndrome LEXMATCH -MONDO:0015296 cardiac anomalies-heterotaxy syndrome skos:exactMatch Orphanet:137628 Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac anomalies-heterotaxy syndrome LEXMATCH -MONDO:0015298 pellucid marginal degeneration skos:exactMatch Orphanet:137672 Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pellucid marginal degeneration LEXMATCH -MONDO:0015299 Asherman syndrome skos:exactMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asherman syndrome LEXMATCH -MONDO:0015301 primary cutaneous amyloidosis skos:exactMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis LEXMATCH -MONDO:0015302 nodular cutaneous amyloidosis skos:exactMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular cutaneous amyloidosis LEXMATCH -MONDO:0015303 macular amyloidosis skos:exactMatch Orphanet:137814 Macular amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular amyloidosis LEXMATCH -MONDO:0015304 arachnoiditis skos:exactMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnoiditis LEXMATCH -MONDO:0015306 Lemierre syndrome skos:exactMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lemierre syndrome LEXMATCH -MONDO:0015307 Madras motor neuron disease skos:exactMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label madras motor neuron disease LEXMATCH -MONDO:0015312 choanal atresia, unilateral skos:exactMatch Orphanet:137917 Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia, unilateral LEXMATCH -MONDO:0015313 choanal atresia, bilateral skos:exactMatch Orphanet:137920 Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia, bilateral LEXMATCH -MONDO:0015314 primary laryngeal lymphangioma skos:exactMatch Orphanet:137926 Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary laryngeal lymphangioma LEXMATCH -MONDO:0015315 neonatal brainstem dysfunction skos:exactMatch Orphanet:137929 Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal brainstem dysfunction LEXMATCH -MONDO:0015316 congenital laryngeal palsy skos:exactMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal palsy LEXMATCH -MONDO:0015317 laryngotracheal angioma skos:exactMatch Orphanet:137935 Laryngotracheal angioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheal angioma LEXMATCH -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:exactMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-intellectual disability-anal atresia-urinary defects syndrome LEXMATCH -MONDO:0015325 cataract-deafness-hypogonadism syndrome skos:exactMatch Orphanet:1383 Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-deafness-hypogonadism syndrome LEXMATCH -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome skos:exactMatch Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness-skeletal anomalies-dysmorphism syndrome LEXMATCH -MONDO:0015327 developmental anomaly of metabolic origin skos:exactMatch Orphanet:139009 Developmental anomaly of metabolic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental anomaly of metabolic origin LEXMATCH -MONDO:0015330 overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth/obesity syndrome LEXMATCH -MONDO:0015333 progeroid syndrome skos:exactMatch Orphanet:139033 Progeroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid syndrome LEXMATCH -MONDO:0015334 branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchial arch or oral-acral syndrome LEXMATCH -MONDO:0015337 isolated craniosynostosis skos:exactMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated craniosynostosis LEXMATCH -MONDO:0015338 syndromic craniosynostosis skos:exactMatch Orphanet:139393 Syndromic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic craniosynostosis LEXMATCH -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyeloneuropathy LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dress syndrome LEXMATCH -MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym drug rash with eosinophilia and systemic symptoms LEXMATCH -MONDO:0015341 congenital panfollicular nevus skos:exactMatch Orphanet:139414 Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital panfollicular nevus LEXMATCH -MONDO:0015342 acute transverse myelitis skos:exactMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute transverse myelitis LEXMATCH -MONDO:0015344 idiopathic acute transverse myelitis skos:exactMatch Orphanet:139423 Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic acute transverse myelitis LEXMATCH -MONDO:0015345 perioral myoclonia with absences skos:exactMatch Orphanet:139426 Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perioral myoclonia with absences LEXMATCH -MONDO:0015346 Jeavons syndrome skos:exactMatch Orphanet:139431 Jeavons syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jeavons syndrome LEXMATCH -MONDO:0015347 multicentric reticulohistiocytosis skos:exactMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric reticulohistiocytosis LEXMATCH -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts skos:exactMatch Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with bilateral anterior temporal lobe cysts LEXMATCH -MONDO:0015349 progressive cavitating leukoencephalopathy skos:exactMatch Orphanet:139447 Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive cavitating leukoencephalopathy LEXMATCH -MONDO:0015350 17q11.2 microduplication syndrome skos:exactMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 17q11.2 microduplication syndrome LEXMATCH -MONDO:0015351 neuropathy with hearing impairment skos:exactMatch Orphanet:139512 Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuropathy with hearing impairment LEXMATCH -MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy type 2 LEXMATCH -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay skos:exactMatch Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy with deafness and global delay LEXMATCH -MONDO:0015355 distal hereditary motor neuropathy type 7 skos:exactMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy type 7 LEXMATCH -MONDO:0015356 hereditary neoplastic syndrome skos:exactMatch Orphanet:140162 Inherited cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inherited cancer-predisposing syndrome LEXMATCH -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion skos:exactMatch Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypoparathyroidism due to impaired parathormon secretion LEXMATCH -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant dhmn LEXMATCH -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant distal spinal muscular atrophy LEXMATCH -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant distal hereditary motor neuropathy LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dhmn LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dsma LEXMATCH -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive distal hereditary motor neuropathy LEXMATCH -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy LEXMATCH -MONDO:0015367 Charlie M syndrome skos:exactMatch Orphanet:1406 Charlie M syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charlie m syndrome LEXMATCH -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch Orphanet:140874 Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome and related disorders LEXMATCH -MONDO:0015371 linear atrophoderma of Moulin skos:exactMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear atrophoderma of moulin LEXMATCH -MONDO:0015372 autosomal dominant macrothrombocytopenia skos:exactMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant macrothrombocytopenia LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:exactMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated angiitis of the central nervous system LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:exactMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary central nervous system vasculitis LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:exactMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary vasculitis of the central nervous system LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:exactMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary angiitis of the central nervous system LEXMATCH -MONDO:0015374 primary central nervous system vasculitis skos:exactMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary central nervous system vasculitis LEXMATCH -MONDO:0015375 orofaciodigital syndrome skos:exactMatch Orphanet:140997 Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome LEXMATCH -MONDO:0015376 first branchial cleft anomaly skos:exactMatch Orphanet:141013 First branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label first branchial cleft anomaly LEXMATCH -MONDO:0015377 third branchial cleft anomaly skos:exactMatch Orphanet:141030 Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label third branchial cleft anomaly LEXMATCH -MONDO:0015378 fourth branchial cleft anomaly skos:exactMatch Orphanet:141037 Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fourth branchial cleft anomaly LEXMATCH -MONDO:0015379 cervical dermoid cyst skos:exactMatch Orphanet:141046 Cervical dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical dermoid cyst LEXMATCH -MONDO:0015380 facial dermoid cyst skos:exactMatch Orphanet:141051 Facial dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dermoid cyst LEXMATCH -MONDO:0015381 commissural lip fistula skos:exactMatch Orphanet:141061 Commissural lip fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label commissural lip fistula LEXMATCH -MONDO:0015382 lower lip fistula skos:exactMatch Orphanet:141064 Lower lip fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower lip fistula LEXMATCH -MONDO:0015383 cervicofacial fibrochondroma skos:exactMatch Orphanet:141067 Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial fibrochondroma LEXMATCH -MONDO:0015384 digestive duplication cyst of the tongue skos:exactMatch Orphanet:141071 Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive duplication cyst of the tongue LEXMATCH -MONDO:0015386 epignathus skos:exactMatch Orphanet:141077 Epignathus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epignathus LEXMATCH -MONDO:0015387 nasolacrimal duct cyst skos:exactMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasolacrimal duct cyst LEXMATCH -MONDO:0015388 polyrrhinia skos:exactMatch Orphanet:141091 Polyrrhinia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyrrhinia LEXMATCH -MONDO:0015389 supernumerary nostril skos:exactMatch Orphanet:141096 Supernumerary nostril semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supernumerary nostril LEXMATCH -MONDO:0015390 proboscis lateralis skos:exactMatch Orphanet:141099 Proboscis lateralis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proboscis lateralis LEXMATCH -MONDO:0015391 nasopharyngeal teratoma skos:exactMatch Orphanet:141107 Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma LEXMATCH -MONDO:0015392 nasal glial heterotopia skos:exactMatch Orphanet:141112 Nasal glial heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia LEXMATCH -MONDO:0015393 nasal ganglioglioma skos:exactMatch Orphanet:141115 Nasal ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal ganglioglioma LEXMATCH -MONDO:0015394 nasal encephalocele skos:exactMatch Orphanet:141118 Nasal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal encephalocele LEXMATCH -MONDO:0015395 congenital subglottic stenosis skos:exactMatch Orphanet:141121 Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis LEXMATCH -MONDO:0015396 congenital laryngeal cyst skos:exactMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal cyst LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:exactMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oav spectrum LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:exactMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculoauriculovertebral spectrum LEXMATCH -MONDO:0015397 craniofacial microsomia 1 skos:exactMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oculo-auriculo-vertebral spectrum LEXMATCH -MONDO:0015399 glossopalatine ankylosis skos:exactMatch Orphanet:141163 Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossopalatine ankylosis LEXMATCH -MONDO:0015400 frontonasal arteriovenous malformation skos:exactMatch Orphanet:141168 Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal arteriovenous malformation LEXMATCH -MONDO:0015401 maxillary arteriovenous malformation skos:exactMatch Orphanet:141171 Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maxillary arteriovenous malformation LEXMATCH -MONDO:0015402 mandibular arteriovenous malformation skos:exactMatch Orphanet:141174 Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibular arteriovenous malformation LEXMATCH -MONDO:0015403 non-involuting congenital hemangioma skos:exactMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma LEXMATCH -MONDO:0015404 rapidly involuting congenital hemangioma skos:exactMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma LEXMATCH -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome skos:exactMatch Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome LEXMATCH -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 skos:exactMatch Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome type 1 LEXMATCH -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 skos:exactMatch Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome type 3 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch Orphanet:141209 Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse lymphatic malformation LEXMATCH -MONDO:0015409 isolated congenital syngnathia skos:exactMatch Orphanet:141214 Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital syngnathia LEXMATCH -MONDO:0015411 facial cleft skos:exactMatch Orphanet:141229 Facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial cleft LEXMATCH -MONDO:0015412 median facial cleft skos:exactMatch Orphanet:141234 Median facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median facial cleft LEXMATCH -MONDO:0015413 median cleft of the upper lip and maxilla skos:exactMatch Orphanet:141239 Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median cleft of the upper lip and maxilla LEXMATCH -MONDO:0015414 paramedian nasal cleft skos:exactMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramedian nasal cleft LEXMATCH -MONDO:0015415 oblique facial cleft skos:exactMatch Orphanet:141253 Oblique facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oblique facial cleft LEXMATCH -MONDO:0015416 Tessier number 5 facial cleft skos:exactMatch Orphanet:141261 Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 5 facial cleft LEXMATCH -MONDO:0015417 Tessier number 6 facial cleft skos:exactMatch Orphanet:141265 Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 6 facial cleft LEXMATCH -MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141269 Lateral facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lateral facial cleft LEXMATCH -MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft LEXMATCH -MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tessier number 7 facial cleft LEXMATCH -MONDO:0015419 midline cervical cleft skos:exactMatch Orphanet:141288 Midline cervical cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label midline cervical cleft LEXMATCH -MONDO:0015420 cleft lip and alveolus skos:exactMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip and alveolus LEXMATCH -MONDO:0015421 orofaciodigital syndrome type 12 skos:exactMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 12 LEXMATCH -MONDO:0015422 orofaciodigital syndrome type 13 skos:exactMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 13 LEXMATCH -MONDO:0015425 lethal recessive chondrodysplasia skos:exactMatch Orphanet:1423 Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal recessive chondrodysplasia LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:exactMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois dysplasia LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:exactMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label desbuquois syndrome LEXMATCH -MONDO:0015426 Desbuquois dysplasia skos:exactMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desbuquois dysplasia LEXMATCH -MONDO:0015427 paroxysmal dyskinesia skos:exactMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal dyskinesia LEXMATCH -MONDO:0015428 choroidal atrophy-alopecia syndrome skos:exactMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroidal atrophy-alopecia syndrome LEXMATCH -MONDO:0015430 ring chromosome 1 skos:exactMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(1) syndrome LEXMATCH -MONDO:0015430 ring chromosome 1 skos:exactMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring 1 LEXMATCH -MONDO:0015430 ring chromosome 1 skos:exactMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 1 LEXMATCH -MONDO:0015431 ring chromosome 10 skos:exactMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 10 LEXMATCH -MONDO:0015432 ring chromosome 12 skos:exactMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 12 LEXMATCH -MONDO:0015433 ring chromosome 17 skos:exactMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 17 LEXMATCH -MONDO:0015434 ring chromosome 18 skos:exactMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 18 LEXMATCH -MONDO:0015435 ring chromosome 19 skos:exactMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 19 LEXMATCH -MONDO:0015436 ring chromosome 20 skos:exactMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 20 LEXMATCH -MONDO:0015438 ring chromosome 22 skos:exactMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(22) syndrome LEXMATCH -MONDO:0015438 ring chromosome 22 skos:exactMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 22 LEXMATCH -MONDO:0015439 ring chromosome 4 skos:exactMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(4) syndrome LEXMATCH -MONDO:0015439 ring chromosome 4 skos:exactMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndrome r(4) LEXMATCH -MONDO:0015439 ring chromosome 4 skos:exactMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 4 LEXMATCH -MONDO:0015440 ring chromosome 6 skos:exactMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 6 LEXMATCH -MONDO:0015441 ring chromosome 7 skos:exactMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 7 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(8) syndrome LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring 8 LEXMATCH -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:exactMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring chromosome 8 LEXMATCH -MONDO:0015445 autosomal dominant coarctation of aorta skos:exactMatch Orphanet:1455 Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant coarctation of aorta LEXMATCH -MONDO:0015446 atypical coarctation of aorta skos:exactMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical coarctation of aorta LEXMATCH -MONDO:0015447 differentiated thyroid carcinoma skos:exactMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label differentiated thyroid carcinoma LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated coenzyme q-cytochrome c reductase deficiency LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated coq-cytochrome c reductase deficiency LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex iii deficiency LEXMATCH -MONDO:0015448 mitochondrial complex III deficiency skos:exactMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated ubiquinone-cytochrome c reductase deficiency LEXMATCH -MONDO:0015449 criss-cross heart skos:exactMatch Orphanet:1461 Criss-cross heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label criss-cross heart LEXMATCH -MONDO:0015450 triatrial heart skos:exactMatch Orphanet:1463 Triatrial heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triatrial heart LEXMATCH -MONDO:0015451 univentricular heart skos:exactMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label univentricular heart LEXMATCH -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome LEXMATCH -MONDO:0015453 Cogan syndrome skos:exactMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cogan syndrome LEXMATCH -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple carboxylase deficiency LEXMATCH -MONDO:0015455 gonococcal conjunctivitis skos:exactMatch Orphanet:1482 Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal conjunctivitis LEXMATCH -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome skos:exactMatch Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome LEXMATCH -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma LEXMATCH -MONDO:0015461 short rib-polydactyly syndrome skos:exactMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short rib-polydactyly syndrome LEXMATCH -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:exactMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thin ribs-tubular bones-dysmorphism syndrome LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scott craniodigital syndrome LEXMATCH -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:exactMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scott-bryant-graham syndrome LEXMATCH -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome skos:exactMatch Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofrontonasal dysplasia-poland anomaly syndrome LEXMATCH -MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniometaphyseal dysplasia LEXMATCH -MONDO:0015466 cranio-osteoarthropathy skos:exactMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranio-osteoarthropathy LEXMATCH -MONDO:0015467 craniosynostosis, Philadelphia type skos:exactMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis, philadelphia type LEXMATCH -MONDO:0015469 craniosynostosis skos:exactMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis LEXMATCH -MONDO:0015471 benign focal seizures of adolescence skos:exactMatch Orphanet:1544 Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign focal seizures of adolescence LEXMATCH -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome skos:exactMatch Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptorchidism-arachnodactyly-intellectual disability syndrome LEXMATCH -MONDO:0015476 cysts and fistulae of the face and oral cavity skos:exactMatch Orphanet:155835 Cysts and fistulae of the face and oral cavity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysts and fistulae of the face and oral cavity LEXMATCH -MONDO:0015477 pinnae fistula or cyst skos:exactMatch Orphanet:155838 Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinnae fistula or cyst LEXMATCH -MONDO:0015478 paramedian facial cleft skos:exactMatch Orphanet:155867 Paramedian facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramedian facial cleft LEXMATCH -MONDO:0015479 submucosal cleft palate skos:exactMatch Orphanet:155878 Submucosal cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label submucosal cleft palate LEXMATCH -MONDO:0015480 coloboma of superior eyelid skos:exactMatch Orphanet:155884 Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of superior eyelid LEXMATCH -MONDO:0015481 coloboma of inferior eyelid skos:exactMatch Orphanet:155889 Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of inferior eyelid LEXMATCH -MONDO:0015483 mandibulofacial dysostosis skos:exactMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis LEXMATCH -MONDO:0015484 cysticercosis skos:exactMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency LEXMATCH -MONDO:0015487 fatal infantile encephalocardiomyopathy skos:exactMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal infantile cox deficiency LEXMATCH -MONDO:0015491 immune complex mediated vasculitis skos:exactMatch Orphanet:156149 Immune complex mediated vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune complex mediated vasculitis LEXMATCH -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis skos:exactMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-neutrophil cytoplasmic antibody-associated vasculitis LEXMATCH -MONDO:0015494 isolated dystonia skos:exactMatch Orphanet:156159 Isolated dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dystonia LEXMATCH -MONDO:0015496 macroglossia skos:exactMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia LEXMATCH -MONDO:0015497 hypoglossia/aglossia skos:exactMatch Orphanet:156212 Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoglossia/aglossia LEXMATCH -MONDO:0015498 oromandibular-limb anomalies syndrome skos:exactMatch Orphanet:156215 Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular-limb anomalies syndrome LEXMATCH -MONDO:0015499 paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic facial malformation LEXMATCH -MONDO:0015500 facial arteriovenous malformation skos:exactMatch Orphanet:156230 Facial arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial arteriovenous malformation LEXMATCH -MONDO:0015514 hereditary endocrine growth disease skos:exactMatch Orphanet:156643 Genetic endocrine growth disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic endocrine growth disease LEXMATCH -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyltransferase ii deficiency LEXMATCH -MONDO:0015516 symbrachydactyly of hands and feet skos:exactMatch Orphanet:1570 Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symbrachydactyly of hands and feet LEXMATCH -MONDO:0015517 common variable immunodeficiency skos:exactMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency LEXMATCH -MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile bilateral striatal necrosis LEXMATCH -MONDO:0015519 congenital or early infantile CACH syndrome skos:exactMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital or early infantile cach syndrome LEXMATCH -MONDO:0015520 late infantile CACH syndrome skos:exactMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late infantile cach syndrome LEXMATCH -MONDO:0015521 juvenile or adult CACH syndrome skos:exactMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile or adult cach syndrome LEXMATCH -MONDO:0015523 epithelioid hemangioendothelioma skos:exactMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid hemangioendothelioma LEXMATCH -MONDO:0015524 hyperplastic polyposis syndrome skos:exactMatch Orphanet:157798 Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperplastic polyposis syndrome LEXMATCH -MONDO:0015525 congenital pseudoarthrosis of the limbs skos:exactMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the limbs LEXMATCH -MONDO:0015526 cold-induced sweating syndrome skos:exactMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cold-induced sweating syndrome LEXMATCH -MONDO:0015528 congenital epulis skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital epulis LEXMATCH -MONDO:0015529 paroxysmal Hemicrania skos:exactMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal hemicrania LEXMATCH -MONDO:0015530 trigeminal autonomic cephalalgia skos:exactMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal autonomic cephalalgia LEXMATCH -MONDO:0015531 non-Langerhans cell histiocytosis skos:exactMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-langerhans cell histiocytosis LEXMATCH -MONDO:0015532 generalized eruptive histiocytosis skos:exactMatch Orphanet:157991 Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized eruptive histiocytosis LEXMATCH -MONDO:0015533 benign cephalic histiocytosis skos:exactMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign cephalic histiocytosis LEXMATCH -MONDO:0015534 juvenile xanthogranuloma skos:exactMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile xanthogranuloma LEXMATCH -MONDO:0015535 xanthoma disseminatum skos:exactMatch Orphanet:158003 Xanthoma disseminatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthoma disseminatum LEXMATCH -MONDO:0015536 papular xanthoma skos:exactMatch Orphanet:158008 Papular xanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular xanthoma LEXMATCH -MONDO:0015537 necrobiotic xanthogranuloma skos:exactMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrobiotic xanthogranuloma LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indeterminate dendritic cell tumor LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indeterminate cell histiocytosis LEXMATCH -MONDO:0015538 indeterminate dendritic cell tumor skos:exactMatch Orphanet:158019 Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym indeterminate dendritic cell tumor LEXMATCH -MONDO:0015539 progressive nodular histiocytosis skos:exactMatch Orphanet:158022 Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive nodular histiocytosis LEXMATCH -MONDO:0015540 hemophagocytic syndrome skos:exactMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophagocytic syndrome LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic hemophagocytic lymphohistiocytosis LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hemophagocytic lymphohistiocytosis LEXMATCH -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hemophagocytic lymphohistiocytosis LEXMATCH -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:exactMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hemophagocytic lymphohistiocytosis LEXMATCH -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease skos:exactMatch Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophagocytic lymphohistiocytosis associated with malignant disease LEXMATCH -MONDO:0015545 macrophage activation syndrome skos:exactMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrophage activation syndrome LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:exactMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric monosomy 10q LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:exactMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal deletion 10q LEXMATCH -MONDO:0015546 non-distal monosomy 10q skos:exactMatch Orphanet:1581 Non-distal deletion 10q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal monosomy 10q LEXMATCH -MONDO:0015547 hereditary dementia skos:exactMatch Orphanet:158124 Genetic dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic dementia LEXMATCH -MONDO:0015548 Huntington disease-like syndrome skos:exactMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like syndrome LEXMATCH -MONDO:0015554 typical urticaria pigmentosa skos:exactMatch Orphanet:158766 Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typical urticaria pigmentosa LEXMATCH -MONDO:0015555 plaque-form urticaria pigmentosa skos:exactMatch Orphanet:158769 Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plaque-form urticaria pigmentosa LEXMATCH -MONDO:0015556 nodular urticaria pigmentosa skos:exactMatch Orphanet:158772 Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular urticaria pigmentosa LEXMATCH -MONDO:0015558 isolated bone marrow mastocytosis skos:exactMatch Orphanet:158778 Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated bone marrow mastocytosis LEXMATCH -MONDO:0015562 distal monosomy 17q skos:exactMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17qter LEXMATCH -MONDO:0015562 distal monosomy 17q skos:exactMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 17q LEXMATCH -MONDO:0015562 distal monosomy 17q skos:exactMatch Orphanet:1597 Distal deletion 17q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 17q LEXMATCH -MONDO:0015564 Castleman disease skos:exactMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label castleman disease LEXMATCH -MONDO:0015565 cap polyposis skos:exactMatch Orphanet:160148 Cap polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cap polyposis LEXMATCH -MONDO:0015566 2q24 microdeletion syndrome skos:exactMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q24 microdeletion syndrome LEXMATCH -MONDO:0015567 cataract-glaucoma syndrome skos:exactMatch Orphanet:162 Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-glaucoma syndrome LEXMATCH -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis skos:exactMatch Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital nasal pyriform aperture stenosis LEXMATCH -MONDO:0015570 isolated congenital auditory ossicle malformation skos:exactMatch Orphanet:162526 Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital auditory ossicle malformation LEXMATCH -MONDO:0015571 deletion 5q35 skos:exactMatch Orphanet:1627 Deletion 5q35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deletion 5q35 LEXMATCH -MONDO:0015573 subacute cutaneous lupus erythematosus skos:exactMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus LEXMATCH -MONDO:0015574 chronic cutaneous lupus erythematosus skos:exactMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic cutaneous lupus erythematosus LEXMATCH -MONDO:0015579 Hb Bart's hydrops fetalis skos:exactMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hb bart's hydrops fetalis LEXMATCH -MONDO:0015580 distal monosomy 7q36 skos:exactMatch Orphanet:1636 Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal monosomy 7q36 LEXMATCH -MONDO:0015583 2p21 microdeletion syndrome skos:exactMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p21 microdeletion syndrome LEXMATCH -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch Orphanet:163703 Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label febrile infection-related epilepsy syndrome LEXMATCH -MONDO:0015585 cryptogenic late-onset epileptic spasms skos:exactMatch Orphanet:163708 Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic late-onset epileptic spasms LEXMATCH -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome skos:exactMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rolandic epilepsy-speech dyspraxia syndrome LEXMATCH -MONDO:0015595 posttransplant acute limbic encephalitis skos:exactMatch Orphanet:163921 Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posttransplant acute limbic encephalitis LEXMATCH -MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris LEXMATCH -MONDO:0015599 atopic keratoconjunctivitis skos:exactMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atopic keratoconjunctivitis LEXMATCH -MONDO:0015600 X-linked intellectual disability, Cilliers type skos:exactMatch Orphanet:163971 X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cilliers type LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, van esch type LEXMATCH -MONDO:0015605 distal monosomy 9p skos:exactMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 9pter LEXMATCH -MONDO:0015605 distal monosomy 9p skos:exactMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 9p LEXMATCH -MONDO:0015605 distal monosomy 9p skos:exactMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 9p LEXMATCH -MONDO:0015605 distal monosomy 9p skos:exactMatch Orphanet:1642 Distal deletion 9p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 9p LEXMATCH -MONDO:0015606 Xp22.3 microdeletion syndrome skos:exactMatch Orphanet:1643 Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xp22.3 microdeletion syndrome LEXMATCH -MONDO:0015607 partial chromosome Y deletion skos:exactMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial chromosome y deletion LEXMATCH -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation skos:exactMatch Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to radiation LEXMATCH -MONDO:0015609 advanced sleep phase syndrome skos:exactMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial advanced sleep-phase syndrome LEXMATCH -MONDO:0015611 neutral lipid storage disease skos:exactMatch Orphanet:165 Neutral lipid storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutral lipid storage disease LEXMATCH -MONDO:0015612 Dent disease skos:exactMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease LEXMATCH -MONDO:0015613 dentin dysplasia skos:exactMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia LEXMATCH -MONDO:0015614 dermatitis herpetiformis skos:exactMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis LEXMATCH -MONDO:0015619 non-syndromic urogenital tract malformation skos:exactMatch Orphanet:165704 Non-syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic urogenital tract malformation LEXMATCH -MONDO:0015620 syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic urogenital tract malformation LEXMATCH -MONDO:0015622 wound myiasis skos:exactMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis LEXMATCH -MONDO:0015623 cavitary myiasis skos:exactMatch Orphanet:165958 Cavitary myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cavitary myiasis LEXMATCH -MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism skos:exactMatch Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-sensitive diffuse hyperinsulinism LEXMATCH -MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism skos:exactMatch Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant diffuse hyperinsulinism LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth hereditary neuropathy LEXMATCH -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt/hmsn LEXMATCH -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia due to collagen 9 anomaly LEXMATCH -MONDO:0015628 von Willebrand disease type 2A skos:exactMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2a LEXMATCH -MONDO:0015629 von Willebrand disease type 2B skos:exactMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2b LEXMATCH -MONDO:0015630 von Willebrand disease type 2M skos:exactMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2m LEXMATCH -MONDO:0015631 von Willebrand disease type 2N skos:exactMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2n LEXMATCH -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy skos:exactMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fastkd2-related infantile mitochondrial encephalomyopathy LEXMATCH -MONDO:0015634 isolated osteopoikilosis skos:exactMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated osteopoikilosis LEXMATCH -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus skos:exactMatch Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratotic eccrine ostial and dermal duct nevus LEXMATCH -MONDO:0015636 dirofilariasis skos:exactMatch Orphanet:166291 Dirofilariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dirofilariasis LEXMATCH -MONDO:0015637 benign non-familial infantile seizures skos:exactMatch Orphanet:166295 Benign non-familial infantile seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign non-familial infantile seizures LEXMATCH -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures skos:exactMatch Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial epilepsy of infancy with complex partial seizures LEXMATCH -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy skos:exactMatch Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial epilepsy with secondarily generalized seizures in infancy LEXMATCH -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis skos:exactMatch Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign infantile seizures associated with mild gastroenteritis LEXMATCH -MONDO:0015642 benign partial infantile seizures skos:exactMatch Orphanet:166311 Benign partial infantile seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial infantile seizures LEXMATCH -MONDO:0015643 photosensitive epilepsy skos:exactMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label photosensitive epilepsy LEXMATCH -MONDO:0015644 audiogenic seizures skos:exactMatch Orphanet:166415 Audiogenic seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label audiogenic seizures LEXMATCH -MONDO:0015645 eating seizures skos:exactMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eating epilepsy LEXMATCH -MONDO:0015645 eating seizures skos:exactMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eating seizures LEXMATCH -MONDO:0015646 orgasm-induced seizures skos:exactMatch Orphanet:166421 Orgasm-induced seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orgasm-induced seizures LEXMATCH -MONDO:0015647 thinking seizures skos:exactMatch Orphanet:166424 Thinking seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thinking seizures LEXMATCH -MONDO:0015648 startle epilepsy skos:exactMatch Orphanet:166427 Startle epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label startle epilepsy LEXMATCH -MONDO:0015649 micturation-induced seizures skos:exactMatch Orphanet:166430 Micturation-induced seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label micturation-induced seizures LEXMATCH -MONDO:0015650 epilepsy syndrome skos:exactMatch Orphanet:166463 Epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy syndrome LEXMATCH -MONDO:0015653 monogenic epilepsy skos:exactMatch Orphanet:166472 Monogenic disease with epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic disease with epilepsy LEXMATCH -MONDO:0015660 sporadic fetal brain disruption sequence skos:exactMatch Orphanet:1665 Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic fetal brain disruption sequence LEXMATCH -MONDO:0015661 dextrocardia skos:exactMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia LEXMATCH -MONDO:0015663 diencephalic syndrome skos:exactMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diencephalic syndrome LEXMATCH -MONDO:0015664 idiopathic pulmonary artery dilatation skos:exactMatch Orphanet:1676 Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pulmonary artery dilatation LEXMATCH -MONDO:0015665 scleromyxedema skos:exactMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromyxedema LEXMATCH -MONDO:0015666 familial idiopathic dilatation of the right atrium skos:exactMatch Orphanet:1677 Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial idiopathic dilatation of the right atrium LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:exactMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym unclassified aml LEXMATCH -MONDO:0015667 acute myeloid leukemia by FAB classification skos:exactMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label unclassified acute myeloid leukemia LEXMATCH -MONDO:0015672 diprosopus skos:exactMatch Orphanet:1681 Diprosopus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diprosopus LEXMATCH -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late infantile neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0015675 distomatosis skos:exactMatch Orphanet:1685 Distomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distomatosis LEXMATCH -MONDO:0015677 cardiac diverticulum skos:exactMatch Orphanet:1686 Cardiac diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac diverticulum LEXMATCH -MONDO:0015678 dysplasia of head of femur, Meyer type skos:exactMatch Orphanet:168621 Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplasia of head of femur, meyer type LEXMATCH -MONDO:0015681 childhood disintegrative disorder skos:exactMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood disintegrative disorder LEXMATCH -MONDO:0015686 primary peritoneal carcinoma skos:exactMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary peritoneal carcinoma LEXMATCH -MONDO:0015687 chronic eosinophilic leukemia skos:exactMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic eosinophilic leukemia LEXMATCH -MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 skos:exactMatch Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2 LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:exactMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome LEXMATCH -MONDO:0015692 refractory anemia with excess blasts in transformation skos:exactMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractory anemia with excess blasts in transformation LEXMATCH -MONDO:0015694 malignant melanoma of the mucosa skos:exactMatch Orphanet:168999 Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant melanoma of the mucosa LEXMATCH -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction skos:exactMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to crac channel dysfunction LEXMATCH -MONDO:0015696 Good syndrome skos:exactMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label good syndrome LEXMATCH -MONDO:0015697 immunoglobulin heavy chain deficiency skos:exactMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin heavy chain deficiency LEXMATCH -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient hypogammaglobulinemia of infancy LEXMATCH -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency skos:exactMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to a classical component pathway complement deficiency LEXMATCH -MONDO:0015700 immunodeficiency due to a late component of complement deficiency skos:exactMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to a late component of complement deficiency LEXMATCH -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:exactMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to il-7ralpha deficiency LEXMATCH -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:exactMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to cd45 deficiency LEXMATCH -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta skos:exactMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta LEXMATCH -MONDO:0015704 familial scaphocephaly syndrome skos:exactMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial scaphocephaly syndrome LEXMATCH -MONDO:0015705 autosomal recessive centronuclear myopathy skos:exactMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive centronuclear myopathy LEXMATCH -MONDO:0015706 mosaic trisomy 1 skos:exactMatch Orphanet:1692 Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 1 LEXMATCH -MONDO:0015708 immuno-osseous dysplasia skos:exactMatch Orphanet:169349 Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immuno-osseous dysplasia LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:exactMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric trisomy 10q LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:exactMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal duplication 10q LEXMATCH -MONDO:0015712 non-distal trisomy 10q skos:exactMatch Orphanet:1695 Non-distal duplication 10q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal trisomy 10q LEXMATCH -MONDO:0015715 severe hemophilia B skos:exactMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hemophilia b LEXMATCH -MONDO:0015717 mild hemophilia B skos:exactMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hemophilia b LEXMATCH -MONDO:0015718 mosaic trisomy 12 skos:exactMatch Orphanet:1698 Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 12 LEXMATCH -MONDO:0015719 severe hemophilia A skos:exactMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hemophilia a LEXMATCH -MONDO:0015721 mild hemophilia A skos:exactMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hemophilia a LEXMATCH -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency skos:exactMatch Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vitamin k-dependent coagulation factors deficiency LEXMATCH -MONDO:0015723 trisomy 12p skos:exactMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 12p LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:exactMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric trisomy 13q LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:exactMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal duplication 13q LEXMATCH -MONDO:0015724 non-distal trisomy 13q skos:exactMatch Orphanet:1702 Non-distal duplication 13q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal trisomy 13q LEXMATCH -MONDO:0015725 mosaic trisomy 14 skos:exactMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 14 LEXMATCH -MONDO:0015726 distal trisomy 14q skos:exactMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 14q LEXMATCH -MONDO:0015726 distal trisomy 14q skos:exactMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 14qter LEXMATCH -MONDO:0015726 distal trisomy 14q skos:exactMatch Orphanet:1705 Distal duplication 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 14q LEXMATCH -MONDO:0015727 mosaic trisomy 15 skos:exactMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 15 LEXMATCH -MONDO:0015728 distal trisomy 15q skos:exactMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 15q LEXMATCH -MONDO:0015728 distal trisomy 15q skos:exactMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 15qter LEXMATCH -MONDO:0015728 distal trisomy 15q skos:exactMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 15q LEXMATCH -MONDO:0015728 distal trisomy 15q skos:exactMatch Orphanet:1707 Distal duplication 15q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 15q LEXMATCH -MONDO:0015729 mosaic trisomy 16 skos:exactMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 16 LEXMATCH -MONDO:0015730 mosaic trisomy 17 skos:exactMatch Orphanet:1711 Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 17 LEXMATCH -MONDO:0015734 rectal duplication skos:exactMatch Orphanet:171220 Rectal duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal duplication LEXMATCH -MONDO:0015735 severe congenital nemaline myopathy skos:exactMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital nemaline myopathy LEXMATCH -MONDO:0015736 intermediate nemaline myopathy skos:exactMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate nemaline myopathy LEXMATCH -MONDO:0015737 typical nemaline myopathy skos:exactMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typical nemaline myopathy LEXMATCH -MONDO:0015738 childhood-onset nemaline myopathy skos:exactMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset nemaline myopathy LEXMATCH -MONDO:0015739 adult-onset nemaline myopathy skos:exactMatch Orphanet:171442 Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset nemaline myopathy LEXMATCH -MONDO:0015740 trisomy 18p skos:exactMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 18p LEXMATCH -MONDO:0015741 distal trisomy 18q skos:exactMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 18q LEXMATCH -MONDO:0015741 distal trisomy 18q skos:exactMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 18qter LEXMATCH -MONDO:0015741 distal trisomy 18q skos:exactMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 18q LEXMATCH -MONDO:0015741 distal trisomy 18q skos:exactMatch Orphanet:1716 Distal duplication 18q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 18q LEXMATCH -MONDO:0015743 idiopathic bilateral vestibulopathy skos:exactMatch Orphanet:171684 Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic bilateral vestibulopathy LEXMATCH -MONDO:0015744 distal trisomy 19q skos:exactMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 19q LEXMATCH -MONDO:0015744 distal trisomy 19q skos:exactMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 19qter LEXMATCH -MONDO:0015744 distal trisomy 19q skos:exactMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 19q LEXMATCH -MONDO:0015744 distal trisomy 19q skos:exactMatch Orphanet:1717 Distal duplication 19q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 19q LEXMATCH -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome skos:exactMatch Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-polymicrogyria-corpus callosum agenesis syndrome LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:exactMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to globozoospermia LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary mucosal leukokeratosis LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label white sponge nevus LEXMATCH -MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary mucosal leukokeratosis LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:exactMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(6)(q16) LEXMATCH -MONDO:0015749 6q16 deletion syndrome skos:exactMatch Orphanet:171829 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 6q16 LEXMATCH -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:exactMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome LEXMATCH -MONDO:0015753 cap myopathy skos:exactMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cap myopathy LEXMATCH -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays skos:exactMatch Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy with hexagonally cross-linked tubular arrays LEXMATCH -MONDO:0015756 myeloid hemopathy skos:exactMatch Orphanet:171895 Myeloid hemopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid hemopathy LEXMATCH -MONDO:0015757 lymphoid hemopathy skos:exactMatch Orphanet:171898 Lymphoid hemopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid hemopathy LEXMATCH -MONDO:0015758 primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous t-cell lymphoma LEXMATCH -MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171915 B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell non-hodgkin lymphoma LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma LEXMATCH -MONDO:0015761 trisomy 10p skos:exactMatch Orphanet:171929 Trisomy 10p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 10p LEXMATCH -MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis LEXMATCH -MONDO:0015763 mosaic trisomy 2 skos:exactMatch Orphanet:1723 Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 2 LEXMATCH -MONDO:0015764 mosaic trisomy 20 skos:exactMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 20 LEXMATCH -MONDO:0015765 congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with cores LEXMATCH -MONDO:0015766 cholera skos:exactMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera LEXMATCH -MONDO:0015767 trisomy 4p skos:exactMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 4p LEXMATCH -MONDO:0015768 trisomy 5p skos:exactMatch Orphanet:1742 Trisomy 5p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 5p LEXMATCH -MONDO:0015769 distal trisomy 6p skos:exactMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 6p LEXMATCH -MONDO:0015769 distal trisomy 6p skos:exactMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 6pter LEXMATCH -MONDO:0015769 distal trisomy 6p skos:exactMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 6p LEXMATCH -MONDO:0015769 distal trisomy 6p skos:exactMatch Orphanet:1745 Distal duplication 6p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 6p LEXMATCH -MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:174590 Congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypogonadotropic hypogonadism LEXMATCH -MONDO:0015771 mosaic trisomy 7 skos:exactMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 7 LEXMATCH -MONDO:0015772 trisomy 8q skos:exactMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 8q LEXMATCH -MONDO:0015773 fibular dimelia-diplopodia syndrome skos:exactMatch Orphanet:1757 Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular dimelia-diplopodia syndrome LEXMATCH -MONDO:0015774 thoraco-abdominal enteric duplication skos:exactMatch Orphanet:1759 Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoraco-abdominal enteric duplication LEXMATCH -MONDO:0015775 non-rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:176 Non-rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-rhizomelic chondrodysplasia punctata LEXMATCH -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata LEXMATCH -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 45,x/46,xy mixed gonadal dysgenesis LEXMATCH -MONDO:0015780 dyskeratosis congenita skos:exactMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita LEXMATCH -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:exactMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-shawl scrotum-joint laxity syndrome LEXMATCH -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome skos:exactMatch Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-cleft palate-loose skin syndrome LEXMATCH -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 skos:exactMatch Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal deletion of 15q11q13 type 1 LEXMATCH -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 skos:exactMatch Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal deletion of 15q11q13 type 2 LEXMATCH -MONDO:0015785 Prader-Willi syndrome due to translocation skos:exactMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to translocation LEXMATCH -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation skos:exactMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to imprinting mutation LEXMATCH -MONDO:0015790 central diabetes insipidus skos:exactMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central diabetes insipidus LEXMATCH -MONDO:0015792 transient congenital hypothyroidism skos:exactMatch Orphanet:178045 Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism LEXMATCH -MONDO:0015793 moderate multiminicore disease with hand involvement skos:exactMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moderate multiminicore disease with hand involvement LEXMATCH -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:exactMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antenatal multiminicore disease with arthrogryposis multiplex congenita LEXMATCH -MONDO:0015795 undifferentiated embryonal sarcoma of the liver skos:exactMatch Orphanet:178315 Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated embryonal sarcoma of the liver LEXMATCH -MONDO:0015796 acute lung injury skos:exactMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lung injury LEXMATCH -MONDO:0015797 UV-sensitive syndrome skos:exactMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome LEXMATCH -MONDO:0015798 inflammatory myofibroblastic tumor skos:exactMatch Orphanet:178342 Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory myofibroblastic tumor LEXMATCH -MONDO:0015799 Smith-McCort dysplasia skos:exactMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia LEXMATCH -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome skos:exactMatch Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerosis-developmental delay-craniosynostosis syndrome LEXMATCH -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation skos:exactMatch Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation LEXMATCH -MONDO:0015802 autosomal dominant non-syndromic intellectual disability skos:exactMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant non-syndromic intellectual disability LEXMATCH -MONDO:0015803 wound botulism skos:exactMatch Orphanet:178475 Wound botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound botulism LEXMATCH -MONDO:0015804 infant botulism skos:exactMatch Orphanet:178478 Infant botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infant botulism LEXMATCH -MONDO:0015805 intestinal botulism skos:exactMatch Orphanet:178481 Intestinal botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal botulism LEXMATCH -MONDO:0015806 adult intestinal botulism skos:exactMatch Orphanet:178487 Adult intestinal botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult intestinal botulism LEXMATCH -MONDO:0015807 myopic macular degeneration skos:exactMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopic macular degeneration LEXMATCH -MONDO:0015808 folliculotropic mycosis fungoides skos:exactMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label folliculotropic mycosis fungoides LEXMATCH -MONDO:0015809 localized pagetoid reticulosis skos:exactMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized pagetoid reticulosis LEXMATCH -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma skos:exactMatch Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma LEXMATCH -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma skos:exactMatch Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma LEXMATCH -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma skos:exactMatch Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma/delta-positive t-cell lymphoma LEXMATCH -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:exactMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous marginal zone b-cell lymphoma LEXMATCH -MONDO:0015814 primary cutaneous follicle center lymphoma skos:exactMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous follicle center lymphoma LEXMATCH -MONDO:0015816 indolent primary cutaneous T-cell lymphoma skos:exactMatch Orphanet:178548 Indolent primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent primary cutaneous t-cell lymphoma LEXMATCH -MONDO:0015819 indolent primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178557 Indolent primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent primary cutaneous b-cell lymphoma LEXMATCH -MONDO:0015820 primary cutaneous B-cell lymphoma skos:exactMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous b-cell lymphoma LEXMATCH -MONDO:0015821 mycosis fungoides and variants skos:exactMatch Orphanet:178566 Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides and variants LEXMATCH -MONDO:0015824 oculomaxillofacial dysostosis skos:exactMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculomaxillofacial dysostosis LEXMATCH -MONDO:0015826 autosomal dominant spondylocostal dysostosis skos:exactMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant spondylocostal dysostosis LEXMATCH -MONDO:0015827 distal renal tubular acidosis skos:exactMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis LEXMATCH -MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:exactMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete bilateral aplasia of the müllerian ducts LEXMATCH -MONDO:0015831 unilateral aplasia of the mullerian ducts skos:exactMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym unicornuate uterus LEXMATCH -MONDO:0015832 true unicornuate uterus skos:exactMatch Orphanet:180074 True unicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label true unicornuate uterus LEXMATCH -MONDO:0015833 pseudounicornuate uterus skos:exactMatch Orphanet:180079 Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudounicornuate uterus LEXMATCH -MONDO:0015834 didelphys uterus skos:exactMatch Orphanet:180086 Didelphys uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label didelphys uterus LEXMATCH -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina skos:exactMatch Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicervical bicornuate uterus and blind hemivagina LEXMATCH -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina skos:exactMatch Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicervical bicornuate uterus with patent cervix and vagina LEXMATCH -MONDO:0015839 septate uterus skos:exactMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label septate uterus LEXMATCH -MONDO:0015840 complete septate uterus skos:exactMatch Orphanet:180126 Complete septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete septate uterus LEXMATCH -MONDO:0015841 partial septate uterus skos:exactMatch Orphanet:180129 Partial septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial septate uterus LEXMATCH -MONDO:0015842 bicornuate uterus skos:exactMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicornuate uterus LEXMATCH -MONDO:0015843 uterine hypoplasia skos:exactMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uterine hypoplasia LEXMATCH -MONDO:0015845 uterine cervical aplasia and agenesis skos:exactMatch Orphanet:180145 Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uterine cervical aplasia and agenesis LEXMATCH -MONDO:0015849 longitudinal vaginal septum skos:exactMatch Orphanet:180157 Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label longitudinal vaginal septum LEXMATCH -MONDO:0015850 transverse vaginal septum skos:exactMatch Orphanet:180160 Transverse vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transverse vaginal septum LEXMATCH -MONDO:0015854 supernumerary breasts skos:exactMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supernumerary breasts LEXMATCH -MONDO:0015855 isolated congenital breast hypoplasia/aplasia skos:exactMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital breast hypoplasia/aplasia LEXMATCH -MONDO:0015856 syndromic breast hypoplasia/aplasia skos:exactMatch Orphanet:180193 Syndromic breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic breast hypoplasia/aplasia LEXMATCH -MONDO:0015863 polyembryoma skos:exactMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyembryoma LEXMATCH -MONDO:0015864 mixed germ cell tumor skos:exactMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed germ cell tumor LEXMATCH -MONDO:0015867 vaginal carcinoma skos:exactMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal carcinoma LEXMATCH -MONDO:0015872 giant adenofibroma of the breast skos:exactMatch Orphanet:180267 Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant adenofibroma of the breast LEXMATCH -MONDO:0015873 Paget disease of the nipple skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paget disease of the nipple LEXMATCH -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:exactMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrotic ectodermal dysplasia, halal type LEXMATCH -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypohidrotic ectodermal dysplasia LEXMATCH -MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth hormone insensitivity syndrome LEXMATCH -MONDO:0015898 adrenogenital syndrome skos:exactMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenogenital syndrome LEXMATCH -MONDO:0015900 hypoaldosteronism disease skos:exactMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare hypoaldosteronism LEXMATCH -MONDO:0015903 hyperalphalipoproteinemia skos:exactMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperalphalipoproteinemia LEXMATCH -MONDO:0015908 chromomycosis skos:exactMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromomycosis LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-rd LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-related disorder LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-related syndrome LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-related syndromic thrombocytopenia LEXMATCH -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myh9-related disease LEXMATCH -MONDO:0015914 primary orthostatic hypotension skos:exactMatch Orphanet:182058 Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary orthostatic hypotension LEXMATCH -MONDO:0015923 acquired peripheral neuropathy skos:exactMatch Orphanet:182086 Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired peripheral neuropathy LEXMATCH -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary arterial hypertension LEXMATCH -MONDO:0015925 interstitial lung disease skos:exactMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease LEXMATCH -MONDO:0015926 pneumoconiosis skos:exactMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumoconiosis LEXMATCH -MONDO:0015927 idiopathic eosinophilic pneumonia skos:exactMatch Orphanet:182101 Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic eosinophilic pneumonia LEXMATCH -MONDO:0015929 thoracic malformation skos:exactMatch Orphanet:182108 Thoracic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic malformation LEXMATCH -MONDO:0015935 extragonadal germinoma skos:exactMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal germinoma LEXMATCH -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphyseal dysplasia-hearing loss-dysmorphism syndrome LEXMATCH -MONDO:0015942 frontometaphyseal dysplasia skos:exactMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontometaphyseal dysplasia LEXMATCH -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic granulomatosis with polyangiitis LEXMATCH -MONDO:0015944 axial mesodermal dysplasia spectrum skos:exactMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial mesodermal dysplasia spectrum LEXMATCH -MONDO:0015947 inherited ichthyosis skos:exactMatch Orphanet:183435 Inherited ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited ichthyosis LEXMATCH -MONDO:0015951 hereditary photodermatosis skos:exactMatch Orphanet:183490 Genetic photodermatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic skin photosensitivity LEXMATCH -MONDO:0015961 hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic head and neck malformation LEXMATCH -MONDO:0015967 monogenic diabetes skos:exactMatch Orphanet:183625 Rare genetic diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare genetic diabetes mellitus LEXMATCH -MONDO:0015974 severe combined immunodeficiency skos:exactMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency LEXMATCH -MONDO:0015977 agammaglobulinemia skos:exactMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agammaglobulinemia LEXMATCH -MONDO:0015978 functional neutrophil defect skos:exactMatch Orphanet:183681 Functional neutrophil defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label functional neutrophil defect LEXMATCH -MONDO:0015979 hereditary predisposition to infections skos:exactMatch Orphanet:183710 Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic susceptibility to infections due to particular pathogens LEXMATCH -MONDO:0015987 scimitar syndrome skos:exactMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scimitar syndrome LEXMATCH -MONDO:0015988 multicystic dysplastic kidney skos:exactMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicystic dysplastic kidney LEXMATCH -MONDO:0015990 focal, segmental or multifocal dystonia skos:exactMatch Orphanet:1866 Focal, segmental or multifocal dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal, segmental or multifocal dystonia LEXMATCH -MONDO:0015991 citrullinemia skos:exactMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia LEXMATCH -MONDO:0015995 melorheostosis with osteopoikilosis skos:exactMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melorheostosis with osteopoikilosis LEXMATCH -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome skos:exactMatch Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopia lentis-chorioretinal dystrophy-myopia syndrome LEXMATCH -MONDO:0015998 isolated ectopia lentis skos:exactMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated ectopia lentis LEXMATCH -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion skos:exactMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hypoparathyroidism due to impaired pth secretion LEXMATCH -MONDO:0016001 2-hydroxyglutaric aciduria skos:exactMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-hydroxyglutaric aciduria LEXMATCH -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency LEXMATCH -MONDO:0016003 ehrlichiosis skos:exactMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehrlichiosis LEXMATCH -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:exactMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aminopterin/methotrexate embryofetopathy LEXMATCH -MONDO:0016005 indomethacin embryofetopathy skos:exactMatch Orphanet:1909 Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indomethacin embryofetopathy LEXMATCH -MONDO:0016006 Cockayne syndrome skos:exactMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome LEXMATCH -MONDO:0016007 cocaine embryofetopathy skos:exactMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine embryofetopathy LEXMATCH -MONDO:0016008 fetal hydantoin syndrome skos:exactMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome LEXMATCH -MONDO:0016009 fetal trimethadione syndrome skos:exactMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal trimethadione syndrome LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym di sala syndrome LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin k antagonist embryopathy LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warfarin embryofetopathy LEXMATCH -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:exactMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warfarin embryopathy LEXMATCH -MONDO:0016011 fetal alcohol syndrome skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal alcohol syndrome LEXMATCH -MONDO:0016012 diethylstilbestrol syndrome skos:exactMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diethylstilbestrol syndrome LEXMATCH -MONDO:0016013 fetal methylmercury syndrome skos:exactMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal methylmercury syndrome LEXMATCH -MONDO:0016014 fetal minoxidil syndrome skos:exactMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal minoxidil syndrome LEXMATCH -MONDO:0016015 phenobarbital embryopathy skos:exactMatch Orphanet:1919 Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phenobarbital embryopathy LEXMATCH -MONDO:0016016 toluene embryopathy skos:exactMatch Orphanet:1920 Toluene embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toluene embryopathy LEXMATCH -MONDO:0016017 methimazole embryofetopathy skos:exactMatch Orphanet:1923 Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methimazole embryofetopathy LEXMATCH -MONDO:0016018 diabetic embryopathy skos:exactMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic embryopathy LEXMATCH -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasmussen subacute encephalitis LEXMATCH -MONDO:0016020 frontal encephalocele skos:exactMatch Orphanet:1931 Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele LEXMATCH -MONDO:0016022 early myoclonic encephalopathy skos:exactMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early myoclonic encephalopathy LEXMATCH -MONDO:0016025 myoclonic-astatic epilepsy skos:exactMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-astatic epilepsy LEXMATCH -MONDO:0016027 benign neonatal seizures skos:exactMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal convulsions LEXMATCH -MONDO:0016027 benign neonatal seizures skos:exactMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal seizures LEXMATCH -MONDO:0016029 esthesioneuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esthesioneuroblastoma LEXMATCH -MONDO:0016030 Evans syndrome skos:exactMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label evans syndrome LEXMATCH -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:exactMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome LEXMATCH -MONDO:0016032 femoral agenesis/hypoplasia skos:exactMatch Orphanet:1987 Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femoral agenesis/hypoplasia LEXMATCH -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cornelia de lange syndrome LEXMATCH -MONDO:0016034 cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip with or without cleft palate LEXMATCH -MONDO:0016035 Nelson syndrome skos:exactMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome LEXMATCH -MONDO:0016037 superficial Fibromatosis skos:exactMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial fibromatosis LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile aponeurotic fibromatosis LEXMATCH -MONDO:0016038 calcified aponeurotic fibroma skos:exactMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keasby tumor LEXMATCH -MONDO:0016039 infantile digital fibromatosis skos:exactMatch Orphanet:199267 Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile digital fibromatosis LEXMATCH -MONDO:0016040 harlequin syndrome skos:exactMatch Orphanet:199282 Harlequin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harlequin syndrome LEXMATCH -MONDO:0016041 congenital microgastria skos:exactMatch Orphanet:199293 Congenital microgastria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital microgastria LEXMATCH -MONDO:0016042 late-onset isolated ACTH deficiency skos:exactMatch Orphanet:199299 Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset isolated acth deficiency LEXMATCH -MONDO:0016043 isolated cleft lip skos:exactMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cleft lip LEXMATCH -MONDO:0016044 cleft lip/palate skos:exactMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate LEXMATCH -MONDO:0016045 tetragametic chimerism skos:exactMatch Orphanet:199310 Tetragametic chimerism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetragametic chimerism LEXMATCH -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies skos:exactMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot with or without associated lower limb anomalies LEXMATCH -MONDO:0016047 endophthalmitis skos:exactMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endophthalmitis LEXMATCH -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type skos:exactMatch Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated autosomal dominant hypomagnesemia, glaudemans type LEXMATCH -MONDO:0016049 congenital myopathy, Paradas type skos:exactMatch Orphanet:199329 Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy, paradas type LEXMATCH -MONDO:0016051 cleft lip-retinopathy syndrome skos:exactMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip-retinopathy syndrome LEXMATCH -MONDO:0016052 atypical autism skos:exactMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism LEXMATCH -MONDO:0016053 isolated cerebellar vermis hypoplasia skos:exactMatch Orphanet:199630 Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cerebellar vermis hypoplasia LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:exactMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital microcephaly LEXMATCH -MONDO:0016056 isolated congenital microcephaly skos:exactMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym true microcephaly LEXMATCH -MONDO:0016057 isolated encephalocele skos:exactMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated encephalocele LEXMATCH -MONDO:0016058 paroxysmal dystonia skos:exactMatch Orphanet:200037 Paroxysmal dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal dystonia LEXMATCH -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome skos:exactMatch Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-deafness-sacral lipoma syndrome LEXMATCH -MONDO:0016060 laryngotracheoesophageal cleft skos:exactMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft LEXMATCH -MONDO:0016061 immunodeficiency with factor H anomaly skos:exactMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency with factor h anomaly LEXMATCH -MONDO:0016062 median cleft lip/mandibule skos:exactMatch Orphanet:2006 Median cleft lip/mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median cleft lower facial stage LEXMATCH -MONDO:0016063 Cowden disease skos:exactMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cowden disease LEXMATCH -MONDO:0016063 Cowden disease skos:exactMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple hamartoma syndrome LEXMATCH -MONDO:0016063 Cowden disease skos:exactMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cowden syndrome LEXMATCH -MONDO:0016063 Cowden disease skos:exactMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cowden disease LEXMATCH -MONDO:0016064 cleft palate skos:exactMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate LEXMATCH -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome skos:exactMatch Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-short stature-vertebral anomalies syndrome LEXMATCH -MONDO:0016066 sternal cleft skos:exactMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sternal cleft LEXMATCH -MONDO:0016067 Crandall syndrome skos:exactMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crandall syndrome LEXMATCH -MONDO:0016068 fibrochondrogenesis skos:exactMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis LEXMATCH -MONDO:0016070 hereditary gingival fibromatosis skos:exactMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary gingival fibromatosis LEXMATCH -MONDO:0016071 juvenile hyaline fibromatosis skos:exactMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile hyaline fibromatosis LEXMATCH -MONDO:0016073 syndromic microphthalmia skos:exactMatch Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia LEXMATCH -MONDO:0016073 syndromic microphthalmia skos:exactMatch Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym syndromic microphthalmia LEXMATCH -MONDO:0016075 filariasis skos:exactMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis LEXMATCH -MONDO:0016077 congenital aortopulmonary window skos:exactMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aortopulmonary window LEXMATCH -MONDO:0016078 congenital systemic arteriovenous fistula skos:exactMatch Orphanet:2039 Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital systemic arteriovenous fistula LEXMATCH -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic creutzfeldt-jakob disease LEXMATCH -MONDO:0016083 FLOTCH syndrome skos:exactMatch Orphanet:2045 FLOTCH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flotch syndrome LEXMATCH -MONDO:0016085 Cole-Carpenter syndrome skos:exactMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cole-carpenter syndrome LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aseptic necrosis of the tarsal bone LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kohler disease LEXMATCH -MONDO:0016086 osteochondritis of tarsal/metatarsal bone skos:exactMatch Orphanet:563991 Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteochondrosis of the tarsal bone LEXMATCH -MONDO:0016087 progressive non-infectious anterior vertebral fusion skos:exactMatch Orphanet:2062 Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-infectious anterior vertebral fusion LEXMATCH -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoxanthine-guanine phosphoribosyltransferase deficiency LEXMATCH -MONDO:0016089 infantile Krabbe disease skos:exactMatch Orphanet:206436 Infantile Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile krabbe disease LEXMATCH -MONDO:0016090 late-infantile/juvenile Krabbe disease skos:exactMatch Orphanet:206443 Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-infantile/juvenile krabbe disease LEXMATCH -MONDO:0016091 adult Krabbe disease skos:exactMatch Orphanet:206448 Adult Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult krabbe disease LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenoma of ovary in childhood LEXMATCH -MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucinous cystadenoma of ovary in childhood LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:exactMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vaginal germ cell cancer LEXMATCH -MONDO:0016094 vaginal germ cell malignant tumor skos:exactMatch Orphanet:206489 Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vaginal germ cell malignant tumor LEXMATCH -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant non-dysgerminomatous germ cell tumor of ovary LEXMATCH -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers skos:exactMatch Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of muscular dystrophy of duchenne and becker in female carriers LEXMATCH -MONDO:0016098 immune-mediated necrotizing myopathy skos:exactMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune-mediated necrotizing myopathy LEXMATCH -MONDO:0016099 overlap myositis skos:exactMatch Orphanet:206572 Overlap myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overlap myositis LEXMATCH -MONDO:0016100 rippling muscle disease with myasthenia gravis skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disease with myasthenia gravis LEXMATCH -MONDO:0016101 neurolymphomatosis skos:exactMatch Orphanet:206586 Neurolymphomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurolymphomatosis LEXMATCH -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute inflammatory demyelinating polyneuropathy LEXMATCH -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase skos:exactMatch Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated asymptomatic elevation of creatine phosphokinase LEXMATCH -MONDO:0016105 acquired skeletal muscle disease skos:exactMatch Orphanet:206638 Acquired skeletal muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired skeletal muscle disease LEXMATCH -MONDO:0016106 progressive muscular dystrophy skos:exactMatch Orphanet:206644 Progressive muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive muscular dystrophy LEXMATCH -MONDO:0016107 myotonic dystrophy skos:exactMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonic dystrophy LEXMATCH -MONDO:0016108 autosomal dominant distal myopathy skos:exactMatch Orphanet:206650 Autosomal dominant distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal myopathy LEXMATCH -MONDO:0016112 hereditary inclusion-body myopathy skos:exactMatch Orphanet:206662 Inclusion myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inclusion myopathy LEXMATCH -MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch Orphanet:206701 Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulbospinal muscular atrophy LEXMATCH -MONDO:0016120 myotonic syndrome skos:exactMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonic syndrome LEXMATCH -MONDO:0016121 congenital myotonia skos:exactMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myotonia LEXMATCH -MONDO:0016122 periodic paralysis skos:exactMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis LEXMATCH -MONDO:0016126 viral myositis skos:exactMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral myositis LEXMATCH -MONDO:0016127 bacterial myositis skos:exactMatch Orphanet:206994 Bacterial myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bacterial myositis LEXMATCH -MONDO:0016128 parasitic myositis skos:exactMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parasitic myositis LEXMATCH -MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic gastroenteritis LEXMATCH -MONDO:0016130 fungal myositis skos:exactMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal myositis LEXMATCH -MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases skos:exactMatch Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative protein defects in neuromuscular diseases LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:exactMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label qualitative or quantitative defects of sarcoglycan LEXMATCH -MONDO:0016140 sarcoglycanopathy skos:exactMatch Orphanet:207052 Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoglycanopathy LEXMATCH -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-sarcoglycan LEXMATCH -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-sarcoglycanopathy LEXMATCH -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-sarcoglycanopathy LEXMATCH -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of beta-sarcoglycan LEXMATCH -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:exactMatch Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of gamma-sarcoglycan LEXMATCH -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of delta-sarcoglycan LEXMATCH -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-sarcoglycanopathy LEXMATCH -MONDO:0016145 qualitative or quantitative defects of dysferlin skos:exactMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of dysferlin LEXMATCH -MONDO:0016146 caveolinopathy skos:exactMatch Orphanet:207078 Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label qualitative or quantitative defects of caveolin-3 LEXMATCH -MONDO:0016146 caveolinopathy skos:exactMatch Orphanet:207078 Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caveolinopathy LEXMATCH -MONDO:0016147 qualitative or quantitative defects of dystrophin skos:exactMatch Orphanet:207085 Qualitative or quantitative defects of dystrophin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of dystrophin LEXMATCH -MONDO:0016151 qualitative or quantitative defects of perlecan skos:exactMatch Orphanet:207101 Qualitative or quantitative defects of perlecan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of perlecan LEXMATCH -MONDO:0016153 qualitative or quantitative defects of TRIM32 skos:exactMatch Orphanet:207107 Qualitative or quantitative defects of TRIM32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of trim32 LEXMATCH -MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan skos:exactMatch Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan LEXMATCH -MONDO:0016156 qualitative or quantitative defects of FKRP skos:exactMatch Orphanet:207119 Qualitative or quantitative defects of FKRP semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of fkrp LEXMATCH -MONDO:0016158 narcolepsy-cataplexy syndrome skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gélineau disease LEXMATCH -MONDO:0016159 Gemignani syndrome skos:exactMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gemignani syndrome LEXMATCH -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-epilepsy syndrome LEXMATCH -MONDO:0016162 bilateral frontal polymicrogyria skos:exactMatch Orphanet:208444 Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontal polymicrogyria LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:208508 Autosomal dominant cerebellar ataxia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type ii LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with pigmentary retinopathy LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar syndrome-pigmentary maculopathy syndrome LEXMATCH -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:exactMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 LEXMATCH -MONDO:0016164 herpetiform pemphigus skos:exactMatch Orphanet:208524 Herpetiform pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label herpetiform pemphigus LEXMATCH -MONDO:0016165 hereditary hypoparathyroidism skos:exactMatch Orphanet:208593 Genetic hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hypoparathyroidism LEXMATCH -MONDO:0016166 hereditary hyperparathyroidism skos:exactMatch Orphanet:208596 Genetic hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hyperparathyroidism LEXMATCH -MONDO:0016167 optic pathway glioma skos:exactMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic pathway glioma LEXMATCH -MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryopyrin-associated periodic syndrome LEXMATCH -MONDO:0016175 cutis laxa skos:exactMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis laxa LEXMATCH -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy skos:exactMatch Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy LEXMATCH -MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 skos:exactMatch Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein o-mannosyltransferase 1 LEXMATCH -MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 skos:exactMatch Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein o-mannosyltransferase 2 LEXMATCH -MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins skos:exactMatch Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of myofibrillar proteins LEXMATCH -MONDO:0016187 qualitative or quantitative defects of desmin skos:exactMatch Orphanet:209041 Qualitative or quantitative defects of desmin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of desmin LEXMATCH -MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin skos:exactMatch Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alphab-cristallin LEXMATCH -MONDO:0016189 qualitative or quantitative defects of filamin C skos:exactMatch Orphanet:209047 Qualitative or quantitative defects of filamin C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of filamin c LEXMATCH -MONDO:0016190 qualitative or quantitative defects of protein ZASP skos:exactMatch Orphanet:209050 Qualitative or quantitative defects of protein ZASP semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein zasp LEXMATCH -MONDO:0016191 qualitative or quantitative defects of titin skos:exactMatch Orphanet:209053 Qualitative or quantitative defects of titin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of titin LEXMATCH -MONDO:0016192 qualitative or quantitative defects of telethonin skos:exactMatch Orphanet:209056 Qualitative or quantitative defects of telethonin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of telethonin LEXMATCH -MONDO:0016193 qualitative or quantitative defects of alpha-actin skos:exactMatch Orphanet:209059 Qualitative or quantitative defects of alpha-actin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-actin LEXMATCH -MONDO:0016194 qualitative or quantitative defects of nebulin skos:exactMatch Orphanet:209182 Qualitative or quantitative defects of nebulin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of nebulin LEXMATCH -MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) skos:exactMatch Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of beta-myosin heavy chain (myh7) LEXMATCH -MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 skos:exactMatch Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of selenoprotein n1 LEXMATCH -MONDO:0016198 qualitative or quantitative defects of plectin skos:exactMatch Orphanet:209196 Qualitative or quantitative defects of plectin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of plectin LEXMATCH -MONDO:0016199 qualitative or quantitative defects of protein SERCA1 skos:exactMatch Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein serca1 LEXMATCH -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant rhegmatogenous retinal detachment LEXMATCH -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency skos:exactMatch Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency LEXMATCH -MONDO:0016204 idiopathic copper-associated cirrhosis skos:exactMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic copper-associated cirrhosis LEXMATCH -MONDO:0016205 IRVAN syndrome skos:exactMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irvan syndrome LEXMATCH -MONDO:0016206 idiopathic uveal effusion syndrome skos:exactMatch Orphanet:209956 Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic uveal effusion syndrome LEXMATCH -MONDO:0016207 phacoanaphylactic uveitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phacoanaphylactic uveitis LEXMATCH -MONDO:0016208 solitary rectal ulcer syndrome skos:exactMatch Orphanet:209964 Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary rectal ulcer syndrome LEXMATCH -MONDO:0016210 alternating hemiplegia skos:exactMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alternating hemiplegia LEXMATCH -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder skos:exactMatch Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-papillary transitional cell carcinoma of the bladder LEXMATCH -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome skos:exactMatch Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome LEXMATCH -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome skos:exactMatch Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome LEXMATCH -MONDO:0016215 spastic quadriplegic cerebral palsy skos:exactMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited congenital spastic quadriplegia LEXMATCH -MONDO:0016216 adult hepatocellular carcinoma skos:exactMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult hepatocellular carcinoma LEXMATCH -MONDO:0016217 mal de Debarquement skos:exactMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disembarkment syndrome LEXMATCH -MONDO:0016217 mal de Debarquement skos:exactMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mdds LEXMATCH -MONDO:0016217 mal de Debarquement skos:exactMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sickness of disembarkment LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:exactMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guillain-barré-strohl syndrome LEXMATCH -MONDO:0016218 Guillain-Barre syndrome skos:exactMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label guillain-barré syndrome LEXMATCH -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome skos:exactMatch Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-pectus carinatum-joint laxity syndrome LEXMATCH -MONDO:0016220 congenital temporomandibular joint ankylosis skos:exactMatch Orphanet:210576 Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital temporomandibular joint ankylosis LEXMATCH -MONDO:0016221 temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporomandibular joint anomaly LEXMATCH -MONDO:0016222 spindle cell hemangioma skos:exactMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spindle cell hemangioma LEXMATCH -MONDO:0016223 infantile hemangioma of rare localization skos:exactMatch Orphanet:210589 Infantile hemangioma of rare localization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hemangioma of rare localization LEXMATCH -MONDO:0016225 specific learning disability skos:exactMatch Orphanet:211047 Specific learning disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label specific learning disability LEXMATCH -MONDO:0016226 specific language disorder skos:exactMatch Orphanet:211053 Specific language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label specific language disorder LEXMATCH -MONDO:0016227 hereditary episodic ataxia skos:exactMatch Orphanet:211062 Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary episodic ataxia LEXMATCH -MONDO:0016236 kaposiform hemangioendothelioma skos:exactMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposiform hemangioendothelioma LEXMATCH -MONDO:0016237 diffuse neonatal hemangiomatosis skos:exactMatch Orphanet:2123 Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse neonatal hemangiomatosis LEXMATCH -MONDO:0016238 solitary fibrous tumor skos:exactMatch Orphanet:2126 Solitary fibrous tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary fibrous tumor LEXMATCH -MONDO:0016239 cystinosis skos:exactMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinosis LEXMATCH -MONDO:0016240 hemimelia skos:exactMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimelia LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alternating hemiplegia of childhood LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia LEXMATCH -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita LEXMATCH -MONDO:0016242 hemoglobin C disease skos:exactMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin c disease LEXMATCH -MONDO:0016243 hemoglobin E disease skos:exactMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin e disease LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ahus LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hus LEXMATCH -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical hemolytic uremic syndrome LEXMATCH -MONDO:0016256 Hennekam syndrome skos:exactMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hennekam syndrome LEXMATCH -MONDO:0016259 carcinosarcoma of the corpus uteri skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinosarcoma of the corpus uteri LEXMATCH -MONDO:0016262 leiomyosarcoma of the corpus uteri skos:exactMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma of the corpus uteri LEXMATCH -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri skos:exactMatch Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive neuroectodermal tumor of the corpus uteri LEXMATCH -MONDO:0016264 autoimmune hepatitis skos:exactMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis LEXMATCH -MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of the corpus uteri LEXMATCH -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of the corpus uteri LEXMATCH -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri skos:exactMatch Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade neuroendocrine carcinoma of the corpus uteri LEXMATCH -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri skos:exactMatch Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low-grade neuroendocrine tumor of the corpus uteri LEXMATCH -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transitional cell carcinoma of the corpus uteri LEXMATCH -MONDO:0016273 malignant germ cell tumor of corpus uteri skos:exactMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germ cell cancer of the corpus uteri LEXMATCH -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri skos:exactMatch Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade neuroendocrine carcinoma of the cervix uteri LEXMATCH -MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri skos:exactMatch Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant mixed epithelial and mesenchymal tumor of cervix uteri LEXMATCH -MONDO:0016280 sarcoma of cervix uteri skos:exactMatch Orphanet:213797 Sarcoma of cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoma of cervix uteri LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx ovotesticular dsd LEXMATCH -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch Orphanet:2138 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx ovotesticular disorder of sex development LEXMATCH -MONDO:0016282 rhabdomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213802 Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyosarcoma of the cervix uteri LEXMATCH -MONDO:0016283 leiomyosarcoma of the cervix uteri skos:exactMatch Orphanet:213807 Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma of the cervix uteri LEXMATCH -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri skos:exactMatch Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive neuroectodermal tumor of the cervix uteri LEXMATCH -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenoid basal carcinoma of the cervix uteri LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:exactMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical germ cell cancer LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:exactMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical malignant germ cell tumor LEXMATCH -MONDO:0016289 malignant germ cell tumor of cervix uteri skos:exactMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germ cell cancer of the cervix uteri LEXMATCH -MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:exactMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hernández-aguirre negrete syndrome LEXMATCH -MONDO:0016291 craniosynostosis, Herrmann-Opitz type skos:exactMatch Orphanet:2145 Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis, herrmann-opitz type LEXMATCH -MONDO:0016292 nodular neuronal heterotopia skos:exactMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular neuronal heterotopia LEXMATCH -MONDO:0016293 congenital stationary night blindness skos:exactMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stationary night blindness LEXMATCH -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:exactMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-type d brachydactyly syndrome LEXMATCH -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0016296 holoprosencephaly skos:exactMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly LEXMATCH -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome skos:exactMatch Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-caudal dysgenesis syndrome LEXMATCH -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally corrected transposition of the great arteries LEXMATCH -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries skos:exactMatch Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenitally uncorrected transposition of the great arteries LEXMATCH -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally uncorrected transposition of the great arteries with cardiac malformation LEXMATCH -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic pantothenate kinase-associated neurodegeneration LEXMATCH -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical pantothenate kinase-associated neurodegeneration LEXMATCH -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form skos:exactMatch Orphanet:216972 Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, severe perinatal form LEXMATCH -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset skos:exactMatch Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, severe early infantile neurologic onset LEXMATCH -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset skos:exactMatch Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, late infantile neurologic onset LEXMATCH -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset skos:exactMatch Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, juvenile neurologic onset LEXMATCH -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, adult neurologic onset LEXMATCH -MONDO:0016311 Bockenheimer syndrome skos:exactMatch Orphanet:217008 Bockenheimer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bockenheimer syndrome LEXMATCH -MONDO:0016312 5-fluorouracil poisoning skos:exactMatch Orphanet:217064 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5-fluorouracil poisoning LEXMATCH -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2, severe form LEXMATCH -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2, attenuated form LEXMATCH -MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of pain with hyperhidrosis LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital analgesia with hyperhidrosis LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital indifference to pain with hyperhidrosis LEXMATCH -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis skos:exactMatch Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital insensitivity to pain with hyperhidrosis LEXMATCH -MONDO:0016321 pulmonary interstitial glycogenosis skos:exactMatch Orphanet:217557 Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary interstitial glycogenosis LEXMATCH -MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:exactMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroendocrine cell hyperplasia of infancy LEXMATCH -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency skos:exactMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic respiratory distress with surfactant metabolism deficiency LEXMATCH -MONDO:0016330 non-familial hypertrophic cardiomyopathy skos:exactMatch Orphanet:217598 Non-familial hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial hypertrophic cardiomyopathy LEXMATCH -MONDO:0016331 infantile systemic hyalinosis skos:exactMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile systemic hyalinosis LEXMATCH -MONDO:0016333 familial dilated cardiomyopathy skos:exactMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial dilated cardiomyopathy LEXMATCH -MONDO:0016338 non-familial dilated cardiomyopathy skos:exactMatch Orphanet:217629 Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial dilated cardiomyopathy LEXMATCH -MONDO:0016340 familial restrictive cardiomyopathy skos:exactMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial restrictive cardiomyopathy LEXMATCH -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia skos:exactMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic right ventricular dysplasia LEXMATCH -MONDO:0016344 hydranencephaly skos:exactMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydranencephaly LEXMATCH -MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch Orphanet:217720 Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial restrictive cardiomyopathy LEXMATCH -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome skos:exactMatch Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-obesity-hypogonadism syndrome LEXMATCH -MONDO:0016349 congenital hydrocephalus skos:exactMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus LEXMATCH -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome skos:exactMatch Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-blue sclerae-nephropathy syndrome LEXMATCH -MONDO:0016351 anti-HLA hyperimmunization skos:exactMatch Orphanet:2194 Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-hla hyperimmunization LEXMATCH -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome skos:exactMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-spastic paralysis syndrome LEXMATCH -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex skos:exactMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex LEXMATCH -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:exactMatch Orphanet:220393 Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse cutaneous systemic sclerosis LEXMATCH -MONDO:0016357 dysplastic cortical hyperostosis skos:exactMatch Orphanet:646139 Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplastic cortical hyperostosis LEXMATCH -MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limited cutaneous systemic sclerosis LEXMATCH -MONDO:0016359 limited systemic sclerosis skos:exactMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limited systemic sclerosis LEXMATCH -MONDO:0016362 attenuated familial adenomatous polyposis skos:exactMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attenuated familial adenomatous polyposis LEXMATCH -MONDO:0016364 Joubert syndrome with ocular defect skos:exactMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with ocular defect LEXMATCH -MONDO:0016365 familial primary hyperparathyroidism skos:exactMatch Orphanet:2207 Familial primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial primary hyperparathyroidism LEXMATCH -MONDO:0016366 maternal phenylketonuria skos:exactMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal phenylketonuria LEXMATCH -MONDO:0016367 dermatomyositis skos:exactMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatomyositis LEXMATCH -MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:exactMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 LEXMATCH -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:exactMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 LEXMATCH -MONDO:0016370 Marchiafava-Bignami disease skos:exactMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marchiafava-bignami disease LEXMATCH -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves skos:exactMatch Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hyperactive dysfunction syndrome of the cranial nerves LEXMATCH -MONDO:0016372 glossopharyngeal neuralgia skos:exactMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossopharyngeal neuralgia LEXMATCH -MONDO:0016374 cranial neuralgia skos:exactMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranial neuralgia LEXMATCH -MONDO:0016376 confetti-like macular atrophy skos:exactMatch Orphanet:221142 Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label confetti-like macular atrophy LEXMATCH -MONDO:0016379 erosive pustular dermatosis of the scalp skos:exactMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erosive pustular dermatosis of the scalp LEXMATCH -MONDO:0016380 acquired hypertrichosis lanuginosa skos:exactMatch Orphanet:2221 Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa LEXMATCH -MONDO:0016381 hypertrichosis lanuginosa congenita skos:exactMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis lanuginosa congenita LEXMATCH -MONDO:0016382 hereditary poikiloderma skos:exactMatch Orphanet:222628 Hereditary poikiloderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary poikiloderma LEXMATCH -MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus LEXMATCH -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome skos:exactMatch Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-frontoparietal alopecia syndrome LEXMATCH -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:exactMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadism-mitral valve prolapse-intellectual disability syndrome LEXMATCH -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-retinitis pigmentosa syndrome LEXMATCH -MONDO:0016387 mitochondrial oxidative phosphorylation disorder skos:exactMatch Orphanet:223713 Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial oxidative phosphorylation disorder LEXMATCH -MONDO:0016390 familial hypoparathyroidism skos:exactMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial isolated hypoparathyroidism LEXMATCH -MONDO:0016391 neonatal diabetes mellitus skos:exactMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus LEXMATCH -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome skos:exactMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar hypoplasia-tapetoretinal degeneration syndrome LEXMATCH -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome LEXMATCH -MONDO:0016394 sporadic infantile bilateral striatal necrosis skos:exactMatch Orphanet:225147 Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic infantile bilateral striatal necrosis LEXMATCH -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:exactMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foveal hypoplasia-presenile cataract syndrome LEXMATCH -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:exactMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 1 LEXMATCH -MONDO:0016407 oligomeganephronia skos:exactMatch Orphanet:2260 Oligomeganephronia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligomeganephronia LEXMATCH -MONDO:0016408 permanent congenital hypothyroidism skos:exactMatch Orphanet:226292 Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label permanent congenital hypothyroidism LEXMATCH -MONDO:0016410 central congenital hypothyroidism skos:exactMatch Orphanet:226298 Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central congenital hypothyroidism LEXMATCH -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function skos:exactMatch Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothyroidism due to deficient transcription factors involved in pituitary development or function LEXMATCH -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs skos:exactMatch Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypothyroidism due to maternal intake of antithyroid drugs LEXMATCH -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type skos:exactMatch Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-intellectual disability, lopes type LEXMATCH -MONDO:0016416 diphallia skos:exactMatch Orphanet:227 Diphallia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphallia LEXMATCH -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome skos:exactMatch Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ichthyosis-microcephalus-tetraplegia syndrome LEXMATCH -MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch Orphanet:227510 Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy, cerebellar type LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:exactMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial breast cancer LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:exactMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial breast carcinoma LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:exactMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary breast carcinoma LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:exactMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary breast cancer LEXMATCH -MONDO:0016419 hereditary breast carcinoma skos:exactMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary breast carcinoma LEXMATCH -MONDO:0016421 toxic oil syndrome skos:exactMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic oil syndrome LEXMATCH -MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:exactMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 3 LEXMATCH -MONDO:0016423 autoimmune polyendocrinopathy type 4 skos:exactMatch Orphanet:227990 Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 4 LEXMATCH -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome skos:exactMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome LEXMATCH -MONDO:0016425 Hughes-Stovin syndrome skos:exactMatch Orphanet:228116 Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hughes-stovin syndrome LEXMATCH -MONDO:0016426 fusariosis skos:exactMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fusariosis LEXMATCH -MONDO:0016429 Marburg acute multiple sclerosis skos:exactMatch Orphanet:228157 Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marburg acute multiple sclerosis LEXMATCH -MONDO:0016430 Balo concentric sclerosis skos:exactMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym concentric demyelination LEXMATCH -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M skos:exactMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2m LEXMATCH -MONDO:0016432 heart-hand syndrome skos:exactMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome LEXMATCH -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome skos:exactMatch Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dysmorphism-short stature-deafness-disorder of sex development syndrome LEXMATCH -MONDO:0016437 late-onset focal dermal elastosis skos:exactMatch Orphanet:228227 Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset focal dermal elastosis LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:exactMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elastotic striae LEXMATCH -MONDO:0016438 linear focal dermal elastosis skos:exactMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear focal dermal elastosis LEXMATCH -MONDO:0016439 elastoderma skos:exactMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastoderma LEXMATCH -MONDO:0016440 elastofibroma dorsi skos:exactMatch Orphanet:228243 Elastofibroma dorsi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastofibroma dorsi LEXMATCH -MONDO:0016441 acquired pseudoxanthoma elasticum skos:exactMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired pseudoxanthoma elasticum LEXMATCH -MONDO:0016442 elastoma skos:exactMatch Orphanet:228254 Elastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastoma LEXMATCH -MONDO:0016443 papular elastorrhexis skos:exactMatch Orphanet:228264 Papular elastorrhexis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular elastorrhexis LEXMATCH -MONDO:0016444 primary anetoderma skos:exactMatch Orphanet:228272 Primary anetoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary anetoderma LEXMATCH -MONDO:0016445 familial anetoderma skos:exactMatch Orphanet:228277 Familial anetoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial anetoderma LEXMATCH -MONDO:0016446 acquired cutis laxa skos:exactMatch Orphanet:228285 Acquired cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cutis laxa LEXMATCH -MONDO:0016447 white fibrous papulosis of the neck skos:exactMatch Orphanet:228290 White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white fibrous papulosis of the neck LEXMATCH -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis skos:exactMatch Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthoma elasticum-like papillary dermal elastolysis LEXMATCH -MONDO:0016449 mid-dermal elastolysis skos:exactMatch Orphanet:228299 Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mid-dermal elastolysis LEXMATCH -MONDO:0016450 autoimmune hemolytic anemia, cold type skos:exactMatch Orphanet:228312 Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia, cold type LEXMATCH -MONDO:0016453 foodborne botulism skos:exactMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foodborne botulism LEXMATCH -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 skos:exactMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b5 LEXMATCH -MONDO:0016455 virus-associated trichodysplasia spinulosa skos:exactMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label virus-associated trichodysplasia spinulosa LEXMATCH -MONDO:0016456 5q14.3 microdeletion syndrome skos:exactMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5q14.3 microdeletion syndrome LEXMATCH -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome skos:exactMatch Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome LEXMATCH -MONDO:0016458 8q12 microduplication syndrome skos:exactMatch Orphanet:228399 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q12 microduplication syndrome LEXMATCH -MONDO:0016459 2q23.1 microdeletion syndrome skos:exactMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q23.1 microdeletion syndrome LEXMATCH -MONDO:0016460 polyvalvular heart disease syndrome skos:exactMatch Orphanet:228410 Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyvalvular heart disease syndrome LEXMATCH -MONDO:0016461 5q35 microduplication syndrome skos:exactMatch Orphanet:228415 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5q35 microduplication syndrome LEXMATCH -MONDO:0016462 isolated agammaglobulinemia skos:exactMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated agammaglobulinemia LEXMATCH -MONDO:0016463 syndromic agammaglobulinemia skos:exactMatch Orphanet:229720 Syndromic agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic agammaglobulinemia LEXMATCH -MONDO:0016464 insulin-resistance syndrome type B skos:exactMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin-resistance syndrome type b LEXMATCH -MONDO:0016466 asbestosis skos:exactMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asbestosis LEXMATCH -MONDO:0016466 asbestosis skos:exactMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis LEXMATCH -MONDO:0016467 isotretinoin syndrome skos:exactMatch Orphanet:2305 Isotretinoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isotretinoin syndrome LEXMATCH -MONDO:0016468 toxin-mediated infectious botulism skos:exactMatch Orphanet:230800 Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxin-mediated infectious botulism LEXMATCH -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome skos:exactMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos/osteogenesis imperfecta syndrome LEXMATCH -MONDO:0016471 pachyonychia congenita skos:exactMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachyonychia congenita LEXMATCH -MONDO:0016472 dracunculiasis skos:exactMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis LEXMATCH -MONDO:0016473 familial rhabdoid tumor skos:exactMatch Orphanet:231108 Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome LEXMATCH -MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced lupus erythematosus LEXMATCH -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 skos:exactMatch Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to imprinting defect of 11p15 LEXMATCH -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation skos:exactMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to cdkn1c mutation LEXMATCH -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion skos:exactMatch Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 microdeletion LEXMATCH -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion skos:exactMatch Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 translocation/inversion LEXMATCH -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication skos:exactMatch Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to 7p11.2p13 microduplication LEXMATCH -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 skos:exactMatch Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to an imprinting defect of 11p15 LEXMATCH -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication skos:exactMatch Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to 11p15 microduplication LEXMATCH -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to maternal uniparental disomy of chromosome 11 LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:exactMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial berry aneurysm LEXMATCH -MONDO:0016483 intracranial berry aneurysm skos:exactMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intracranial saccular aneurysm LEXMATCH -MONDO:0016484 Usher syndrome type 2 skos:exactMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 2 LEXMATCH -MONDO:0016485 Usher syndrome type 3 skos:exactMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 3 LEXMATCH -MONDO:0016486 beta-thalassemia major skos:exactMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia major LEXMATCH -MONDO:0016487 beta-thalassemia intermedia skos:exactMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia intermedia LEXMATCH -MONDO:0016489 delta-beta-thalassemia skos:exactMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delta-beta-thalassemia LEXMATCH -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome skos:exactMatch Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin c-beta-thalassemia syndrome LEXMATCH -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome skos:exactMatch Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin e-beta-thalassemia syndrome LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcb variant of gbs LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcb variant of guillain-barré syndrome LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngeal-cervical-brachial weakness LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngo-cervico-brachial variant of gbs LEXMATCH -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngo-cervico-brachial variant of guillain-barré syndrome LEXMATCH -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paraparetic variant of gbs LEXMATCH -MONDO:0016498 acute pure sensory neuropathy skos:exactMatch Orphanet:231450 Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pure sensory neuropathy LEXMATCH -MONDO:0016499 acute pandysautonomia skos:exactMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pandysautonomia LEXMATCH -MONDO:0016500 acute sensory ataxic neuropathy skos:exactMatch Orphanet:231466 Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sensory ataxic neuropathy LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:exactMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hps with pulmonary fibrosis LEXMATCH -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis skos:exactMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hermansky-pudlak syndrome with pulmonary fibrosis LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:exactMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hps without pulmonary fibrosis LEXMATCH -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis skos:exactMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hermansky-pudlak syndrome without pulmonary fibrosis LEXMATCH -MONDO:0016503 congenital erosive and vesicular dermatosis skos:exactMatch Orphanet:231573 Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital erosive and vesicular dermatosis LEXMATCH -MONDO:0016504 primary unilateral adrenal hyperplasia skos:exactMatch Orphanet:231580 Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary unilateral adrenal hyperplasia LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure aldosterone-producing adrenocortical carcinoma LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure aldosterone-secreting adrenocortical carcinoma LEXMATCH -MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure apac LEXMATCH -MONDO:0016506 ectopic aldosterone-producing tumor skos:exactMatch Orphanet:231632 Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic aldosterone-producing tumor LEXMATCH -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome skos:exactMatch Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome LEXMATCH -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome skos:exactMatch Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epibulbar lipodermoid-preauricular appendage-polythelia syndrome LEXMATCH -MONDO:0016511 infectious embryofetopathy skos:exactMatch Orphanet:232035 Infectious embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious embryofetopathy LEXMATCH -MONDO:0016512 Kabuki syndrome skos:exactMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kabuki syndrome LEXMATCH -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia skos:exactMatch Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex with anodontia/hypodontia LEXMATCH -MONDO:0016515 Kallmann syndrome-heart disease syndrome skos:exactMatch Orphanet:2326 Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kallmann syndrome-heart disease syndrome LEXMATCH -MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kenny-caffey syndrome LEXMATCH -MONDO:0016520 isolated Klippel-Feil syndrome skos:exactMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated klippel-feil syndrome LEXMATCH -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:exactMatch Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular pseudohypertrophy-hypothyroidism syndrome LEXMATCH -MONDO:0016522 Kousseff syndrome skos:exactMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kousseff syndrome LEXMATCH -MONDO:0016523 bronchogenic cyst skos:exactMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchogenic cyst LEXMATCH -MONDO:0016524 congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vascular bone syndrome LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:exactMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism LEXMATCH -MONDO:0016525 familial hyperaldosteronism skos:exactMatch Orphanet:371861 Genetic hyperaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hyperaldosteronism LEXMATCH -MONDO:0016526 trisomy 9p skos:exactMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 9p LEXMATCH -MONDO:0016526 trisomy 9p skos:exactMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 9p LEXMATCH -MONDO:0016526 trisomy 9p skos:exactMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of the short arm of chromosome 9 LEXMATCH -MONDO:0016526 trisomy 9p skos:exactMatch Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 9p LEXMATCH -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency skos:exactMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase deficiency LEXMATCH -MONDO:0016528 limb body wall complex skos:exactMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb body wall complex LEXMATCH -MONDO:0016529 duplication of urethra skos:exactMatch Orphanet:237 Duplication of urethra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duplication of urethra LEXMATCH -MONDO:0016530 laryngocele skos:exactMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele LEXMATCH -MONDO:0016531 digestive duplication skos:exactMatch Orphanet:238 Digestive duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive duplication LEXMATCH -MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lennox-gastaut syndrome LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid nephropathy due to apolipoprotein a-ii variant LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial renal amyloidosis due to apolipoprotein a-ii variant LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy due to apolipoprotein a-ii variant LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal amyloidosis due to apolipoprotein a-ii variant LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aapoaii amyloidosis LEXMATCH -MONDO:0016533 apolipoprotein A-II amyloidosis skos:exactMatch Orphanet:238269 AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-ii amyloidosis LEXMATCH -MONDO:0016534 infundibulo-neurohypophysitis skos:exactMatch Orphanet:238305 Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infundibulo-neurohypophysitis LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrotic ectodermal dysplasia LEXMATCH -MONDO:0016537 lymphoproliferative syndrome skos:exactMatch Orphanet:238510 Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoproliferative syndrome LEXMATCH -MONDO:0016539 atypical hypotonia-cystinuria syndrome skos:exactMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical hypotonia-cystinuria syndrome LEXMATCH -MONDO:0016540 congenital secondary polycythemia skos:exactMatch Orphanet:238536 Congenital secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital secondary polycythemia LEXMATCH -MONDO:0016541 acquired secondary polycythemia skos:exactMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired secondary polycythemia LEXMATCH -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:exactMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome LEXMATCH -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphenylalaninemia due to tetrahydrobiopterin deficiency LEXMATCH -MONDO:0016544 IgG4-related mesenteritis skos:exactMatch Orphanet:238593 IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related mesenteritis LEXMATCH -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome skos:exactMatch Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy-palmoplantar keratoderma syndrome LEXMATCH -MONDO:0016546 primary orthostatic tremor skos:exactMatch Orphanet:238606 Primary orthostatic tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary orthostatic tremor LEXMATCH -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation skos:exactMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to nsd1 mutation LEXMATCH -MONDO:0016548 megacystis-megaureter syndrome skos:exactMatch Orphanet:238637 Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-megaureter syndrome LEXMATCH -MONDO:0016549 primary megaureter, adult-onset form skos:exactMatch Orphanet:238642 Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary megaureter, adult-onset form LEXMATCH -MONDO:0016550 congenital primary megaureter, obstructed form skos:exactMatch Orphanet:238646 Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, obstructed form LEXMATCH -MONDO:0016551 congenital primary megaureter, refluxing form skos:exactMatch Orphanet:238650 Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, refluxing form LEXMATCH -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form skos:exactMatch Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, nonrefluxing and unobstructed form LEXMATCH -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypogonadotropic hypogonadism LEXMATCH -MONDO:0016554 neonatal iodine exposure skos:exactMatch Orphanet:238688 Neonatal iodine exposure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal iodine exposure LEXMATCH -MONDO:0016555 transient congenital hypothyroidism due to maternal factor skos:exactMatch Orphanet:238696 Transient congenital hypothyroidism due to maternal factor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism due to maternal factor LEXMATCH -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor skos:exactMatch Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism due to neonatal factor LEXMATCH -MONDO:0016557 leukonychia totalis skos:exactMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukonychia totalis LEXMATCH -MONDO:0016558 familial congenital mirror movements skos:exactMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital mirror movements LEXMATCH -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea skos:exactMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma secondary to spherophakia/ectopia lentis and megalocornea LEXMATCH -MONDO:0016561 1q44 microdeletion syndrome skos:exactMatch Orphanet:238769 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1q44 microdeletion syndrome LEXMATCH -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome skos:exactMatch Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-pure akinesia with gait freezing syndrome LEXMATCH -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome skos:exactMatch Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-corticobasal syndrome LEXMATCH -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome skos:exactMatch Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-progressive non-fluent aphasia syndrome LEXMATCH -MONDO:0016566 loiasis skos:exactMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis LEXMATCH -MONDO:0016567 locked-in syndrome skos:exactMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome LEXMATCH -MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:exactMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowe-kohn-cohen syndrome LEXMATCH -MONDO:0016570 primary pulmonary lymphoma skos:exactMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary lymphoma LEXMATCH -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome skos:exactMatch Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-short stature-paraplegia syndrome LEXMATCH -MONDO:0016573 acute fatty liver of pregnancy skos:exactMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute fatty liver of pregnancy LEXMATCH -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:exactMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome LEXMATCH -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia LEXMATCH -MONDO:0016576 split hand-foot malformation skos:exactMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectrodactyly LEXMATCH -MONDO:0016576 split hand-foot malformation skos:exactMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split hand foot malformation LEXMATCH -MONDO:0016577 biliary atresia with splenic malformation syndrome skos:exactMatch Orphanet:244283 Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biliary atresia with splenic malformation syndrome LEXMATCH -MONDO:0016580 congenital pulmonary airway malformation skos:exactMatch Orphanet:2444 Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation LEXMATCH -MONDO:0016581 conotruncal heart malformations skos:exactMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conotruncal heart malformations LEXMATCH -MONDO:0016582 congenital mitral malformation skos:exactMatch Orphanet:2447 Congenital mitral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral malformation LEXMATCH -MONDO:0016584 mandibuloacral dysplasia skos:exactMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia LEXMATCH -MONDO:0016586 systemic mastocytosis skos:exactMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic mastocytosis LEXMATCH -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arrhythmogenic right ventricular cardiomyopathy LEXMATCH -MONDO:0016588 infantile mercury poisoning skos:exactMatch Orphanet:247165 Infantile mercury poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile mercury poisoning LEXMATCH -MONDO:0016589 progressive cerebello-cerebral atrophy skos:exactMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive cerebello-cerebral atrophy LEXMATCH -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology skos:exactMatch Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic adult-onset ataxia of unknown etiology LEXMATCH -MONDO:0016593 acquired ataxia skos:exactMatch Orphanet:247242 Acquired ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ataxia LEXMATCH -MONDO:0016594 superficial siderosis skos:exactMatch Orphanet:247245 Superficial siderosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial siderosis LEXMATCH -MONDO:0016595 inhalational anthrax skos:exactMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inhalational anthrax LEXMATCH -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphosphatasia-intellectual disability syndrome LEXMATCH -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene skos:exactMatch Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive secondary polycythemia not associated with vhl gene LEXMATCH -MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch Orphanet:247546 Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute neonatal citrullinemia type i LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym late-onset citrullinemia type 1 LEXMATCH -MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch Orphanet:247573 Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label late-onset citrullinemia type i LEXMATCH -MONDO:0016602 citrin deficiency skos:exactMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrin deficiency LEXMATCH -MONDO:0016603 citrullinemia type II skos:exactMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia type ii LEXMATCH -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome skos:exactMatch Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysraphism-cleft lip/palate-limb reduction defects syndrome LEXMATCH -MONDO:0016605 perinatal lethal hypophosphatasia skos:exactMatch Orphanet:247623 Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal lethal hypophosphatasia LEXMATCH -MONDO:0016607 odontohypophosphatasia skos:exactMatch Orphanet:247685 Odontohypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontohypophosphatasia LEXMATCH -MONDO:0016608 megalencephaly skos:exactMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly LEXMATCH -MONDO:0016609 inflammatory myopathy with abundant macrophages skos:exactMatch Orphanet:247718 Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory myopathy with abundant macrophages LEXMATCH -MONDO:0016610 idiopathic eosinophilic myositis skos:exactMatch Orphanet:247724 Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic eosinophilic myositis LEXMATCH -MONDO:0016611 lipoblastoma skos:exactMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoblastoma LEXMATCH -MONDO:0016612 X-linked cerebellar ataxia skos:exactMatch Orphanet:247765 X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebellar ataxia LEXMATCH -MONDO:0016613 APC-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apc-related attenuated familial adenomatous polyposis LEXMATCH -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency skos:exactMatch Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex10 deficiency LEXMATCH -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:exactMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hypohidrotic ectodermal dysplasia LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypertrophic osteoarthropathy LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome LEXMATCH -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pachydermoperiostosis LEXMATCH -MONDO:0016621 juvenile Huntington disease skos:exactMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile huntington disease LEXMATCH -MONDO:0016622 Melhem-Fahl syndrome skos:exactMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melhem-fahl syndrome LEXMATCH -MONDO:0016625 acquired deficiency anemia skos:exactMatch Orphanet:248302 Rare acquired deficiency anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare acquired deficiency anemia LEXMATCH -MONDO:0016630 isolated delta-storage pool disease skos:exactMatch Orphanet:248340 Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated delta-storage pool disease LEXMATCH -MONDO:0016638 familial hypodysfibrinogenemia skos:exactMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypodysfibrinogenemia LEXMATCH -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:exactMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fried-goldberg-mundel syndrome LEXMATCH -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht-scott syndrome LEXMATCH -MONDO:0016642 meningioma skos:exactMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningioma LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:exactMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia LEXMATCH -MONDO:0016644 logopenic progressive aphasia skos:exactMatch Orphanet:250831 Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia LEXMATCH -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy skos:exactMatch Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy and peripheral neuropathy LEXMATCH -MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:exactMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warburg micro syndrome LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:exactMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label micro syndrome LEXMATCH -MONDO:0016649 Warburg micro syndrome skos:exactMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym warburg micro syndrome LEXMATCH -MONDO:0016650 paternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251004 Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 1 LEXMATCH -MONDO:0016651 maternal uniparental disomy of chromosome 1 skos:exactMatch Orphanet:251009 Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 1 LEXMATCH -MONDO:0016652 2q31.1 microdeletion syndrome skos:exactMatch Orphanet:251014 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q31.1 microdeletion syndrome LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(q33.1) LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2q33.1 LEXMATCH -MONDO:0016653 2q33.1 microdeletion syndrome skos:exactMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 2q33.1 microdeletion syndrome LEXMATCH -MONDO:0016654 ring chromosome 5 skos:exactMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 5 LEXMATCH -MONDO:0016655 6p22 microdeletion syndrome skos:exactMatch Orphanet:251046 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6p22 microdeletion syndrome LEXMATCH -MONDO:0016656 7q31 microdeletion syndrome skos:exactMatch Orphanet:251061 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7q31 microdeletion syndrome LEXMATCH -MONDO:0016657 8p11.2 deletion syndrome skos:exactMatch Orphanet:251066 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p11.2 deletion syndrome LEXMATCH -MONDO:0016658 8p23.1 microdeletion syndrome skos:exactMatch Orphanet:251071 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p23.1 microdeletion syndrome LEXMATCH -MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch Orphanet:251076 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p23.1 duplication syndrome LEXMATCH -MONDO:0016660 autosomal recessive primary microcephaly skos:exactMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive primary microcephaly LEXMATCH -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis skos:exactMatch Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile onset panniculitis with uveitis and systemic granulomatosis LEXMATCH -MONDO:0016662 idiopathic recurrent pericarditis skos:exactMatch Orphanet:251307 Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic recurrent pericarditis LEXMATCH -MONDO:0016663 overlapping connective tissue disease skos:exactMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overlapping connective tissue disease LEXMATCH -MONDO:0016664 drug-induced vasculitis skos:exactMatch Orphanet:251325 Drug-induced vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced vasculitis LEXMATCH -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome skos:exactMatch Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unexplained long-lasting fever/inflammatory syndrome LEXMATCH -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-beta-thalassemia disease syndrome LEXMATCH -MONDO:0016669 sickle cell-hemoglobin c disease syndrome skos:exactMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin c disease syndrome LEXMATCH -MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:exactMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin d disease syndrome LEXMATCH -MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:exactMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin e disease syndrome LEXMATCH -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:exactMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-sickle cell disease syndrome LEXMATCH -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-nh loc LEXMATCH -MONDO:0016674 46,XY partial gonadal dysgenesis skos:exactMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy partial gonadal dysgenesis LEXMATCH -MONDO:0016675 distal arthrogryposis type 10 skos:exactMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis type 10 LEXMATCH -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:exactMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperzincemia and hypercalprotectinemia LEXMATCH -MONDO:0016677 toxic or drug-related embryofetopathy skos:exactMatch Orphanet:251529 Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic or drug-related embryofetopathy LEXMATCH -MONDO:0016678 maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal disease-related embryofetopathy LEXMATCH -MONDO:0016681 gliosarcoma skos:exactMatch Orphanet:251576 Gliosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gliosarcoma LEXMATCH -MONDO:0016682 giant cell glioblastoma skos:exactMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant cell glioblastoma LEXMATCH -MONDO:0016683 gliomatosis cerebri skos:exactMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gliomatosis cerebri LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:exactMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic astrocytoma LEXMATCH -MONDO:0016685 low-grade astrocytoma skos:exactMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low-grade astrocytoma LEXMATCH -MONDO:0016686 diffuse astrocytoma skos:exactMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse astrocytoma LEXMATCH -MONDO:0016687 protoplasmic astrocytoma skos:exactMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protoplasmic astrocytoma LEXMATCH -MONDO:0016688 fibrillary astrocytoma skos:exactMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrillary astrocytoma LEXMATCH -MONDO:0016689 gemistocytic astrocytoma skos:exactMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gemistocytic astrocytoma LEXMATCH -MONDO:0016690 pleomorphic xanthoastrocytoma skos:exactMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic xanthoastrocytoma LEXMATCH -MONDO:0016691 pilocytic astrocytoma skos:exactMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilocytic astrocytoma LEXMATCH -MONDO:0016692 pilomyxoid astrocytoma skos:exactMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilomyxoid astrocytoma LEXMATCH -MONDO:0016693 subependymal giant cell astrocytoma skos:exactMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymal giant cell astrocytoma LEXMATCH -MONDO:0016695 oligodendroglioma skos:exactMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodendroglioma LEXMATCH -MONDO:0016696 anaplastic oligodendroglioma skos:exactMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligodendroglioma LEXMATCH -MONDO:0016698 ependymoma skos:exactMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymoma LEXMATCH -MONDO:0016699 myxopapillary ependymoma skos:exactMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxopapillary ependymoma LEXMATCH -MONDO:0016700 anaplastic ependymoma skos:exactMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ependymoma LEXMATCH -MONDO:0016702 oligoastrocytoma skos:exactMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligoastrocytoma LEXMATCH -MONDO:0016703 anaplastic oligoastrocytoma skos:exactMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligoastrocytoma LEXMATCH -MONDO:0016705 angiocentric glioma skos:exactMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiocentric glioma LEXMATCH -MONDO:0016706 chordoid glioma of the third ventricle skos:exactMatch Orphanet:251674 Chordoid glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chordoid glioma LEXMATCH -MONDO:0016707 astroblastoma skos:exactMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astroblastoma LEXMATCH -MONDO:0016709 anaplastic/large cell medulloblastoma skos:exactMatch Orphanet:251855 Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic/large cell medulloblastoma LEXMATCH -MONDO:0016710 medulloblastoma with extensive nodularity skos:exactMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medulloblastoma with extensive nodularity LEXMATCH -MONDO:0016711 desmoplastic/nodular medulloblastoma skos:exactMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic/nodular medulloblastoma LEXMATCH -MONDO:0016712 classic medulloblastoma skos:exactMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic medulloblastoma LEXMATCH -MONDO:0016715 ependymoblastoma skos:exactMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymoblastoma LEXMATCH -MONDO:0016717 choroid plexus neoplasm skos:exactMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choroid plexus tumor LEXMATCH -MONDO:0016718 choroid plexus carcinoma skos:exactMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroid plexus carcinoma LEXMATCH -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:exactMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-seizures-intellectual disability-heart disease syndrome LEXMATCH -MONDO:0016722 pineoblastoma skos:exactMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineoblastoma LEXMATCH -MONDO:0016723 pineocytoma skos:exactMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineocytoma LEXMATCH -MONDO:0016724 papillary tumor of the pineal region skos:exactMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary tumor of the pineal region LEXMATCH -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation skos:exactMatch Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineal parenchymal tumor of intermediate differenciation LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:exactMatch Orphanet:251927 Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma LEXMATCH -MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch Orphanet:251934 Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed neuronal-glial tumor LEXMATCH -MONDO:0016730 gangliocytoma skos:exactMatch Orphanet:251937 Gangliocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gangliocytoma LEXMATCH -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma skos:exactMatch Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic infantile astrocytoma/ganglioglioma LEXMATCH -MONDO:0016733 ganglioglioma skos:exactMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioglioma LEXMATCH -MONDO:0016734 anaplastic ganglioglioma skos:exactMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ganglioglioma LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:exactMatch Orphanet:251962 Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch Orphanet:251975 Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor LEXMATCH -MONDO:0016739 yolk sac tumor of central nervous system skos:exactMatch Orphanet:252006 Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yolk sac tumor of central nervous system LEXMATCH -MONDO:0016740 choriocarcinoma of the central nervous system skos:exactMatch Orphanet:252015 Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choriocarcinoma of the central nervous system LEXMATCH -MONDO:0016742 mixed germ cell tumor of central nervous system skos:exactMatch Orphanet:252021 Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed germ cell tumor of central nervous system LEXMATCH -MONDO:0016743 tumor of meninges skos:exactMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor of meninges LEXMATCH -MONDO:0016745 diffuse leptomeningeal melanocytosis skos:exactMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse leptomeningeal melanocytosis LEXMATCH -MONDO:0016746 meningeal melanocytoma skos:exactMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningeal melanocytoma LEXMATCH -MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary melanoma of the central nervous system LEXMATCH -MONDO:0016748 hemangioblastoma skos:exactMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemangioblastoma LEXMATCH -MONDO:0016749 tumor of cranial and spinal nerves skos:exactMatch Orphanet:252057 Tumor of cranial and spinal nerves semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor of cranial and spinal nerves LEXMATCH -MONDO:0016751 malignant perineurioma skos:exactMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant peripheral nerve sheath tumor with perineurial differentiation LEXMATCH -MONDO:0016751 malignant perineurioma skos:exactMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant perineurioma LEXMATCH -MONDO:0016752 benign peripheral nerve sheath tumor skos:exactMatch Orphanet:252131 Benign peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign peripheral nerve sheath tumor LEXMATCH -MONDO:0016755 neurofibroma skos:exactMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibroma LEXMATCH -MONDO:0016757 malignant triton tumor skos:exactMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant triton tumor LEXMATCH -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome skos:exactMatch Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-brain defect-spasticity-hypernatremia syndrome LEXMATCH -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:exactMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 2 LEXMATCH -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:exactMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-microcornea syndrome, seemanova type LEXMATCH -MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia LEXMATCH -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome skos:exactMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated anophthalmia-microphthalmia syndrome LEXMATCH -MONDO:0016765 19p13.12 microdeletion syndrome skos:exactMatch Orphanet:254346 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 19p13.12 microdeletion syndrome LEXMATCH -MONDO:0016769 linear lichen planus skos:exactMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear lichen planus LEXMATCH -MONDO:0016770 actinic lichen planus skos:exactMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic lichen planus LEXMATCH -MONDO:0016771 annular atrophic lichen planus skos:exactMatch Orphanet:254411 Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular atrophic lichen planus LEXMATCH -MONDO:0016772 annular lichen planus skos:exactMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular lichen planus LEXMATCH -MONDO:0016773 atrophic lichen planus skos:exactMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophic lichen planus LEXMATCH -MONDO:0016774 lichen planus pigmentosus skos:exactMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus pigmentosus LEXMATCH -MONDO:0016775 lichen planus pemphigoides skos:exactMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus pemphigoides LEXMATCH -MONDO:0016776 frontal fibrosing alopecia skos:exactMatch Orphanet:254492 Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal fibrosing alopecia LEXMATCH -MONDO:0016777 inhalational botulism skos:exactMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inhalational botulism LEXMATCH -MONDO:0016778 iatrogenic botulism skos:exactMatch Orphanet:254509 Iatrogenic botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iatrogenic botulism LEXMATCH -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect skos:exactMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kagami-ogata syndrome LEXMATCH -MONDO:0016780 paternal 14q32.2 microdeletion syndrome skos:exactMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paternal del(14)(q32.2) LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:exactMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternal del(14)(q32.2) LEXMATCH -MONDO:0016781 maternal 14q32.2 microdeletion syndrome skos:exactMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternal monosomy 14q32.2 LEXMATCH -MONDO:0016785 complete hydatidiform mole skos:exactMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hydatidiform mole LEXMATCH -MONDO:0016786 partial hydatidiform mole skos:exactMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial hydatidiform mole LEXMATCH -MONDO:0016787 epithelioid trophoblastic tumor skos:exactMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid trophoblastic tumor LEXMATCH -MONDO:0016789 pyruvate metabolism disorder skos:exactMatch Orphanet:254746 Pyruvate metabolism disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate metabolism disorder LEXMATCH -MONDO:0016790 tricarboxylic acid cycle disorder skos:exactMatch Orphanet:254749 Tricarboxylic acid cycle disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricarboxylic acid cycle disorder LEXMATCH -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form skos:exactMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form LEXMATCH -MONDO:0016798 ataxia neuropathy spectrum skos:exactMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia neuropathy spectrum LEXMATCH -MONDO:0016800 mitochondrial membrane transport disorder skos:exactMatch Orphanet:254827 Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial membrane transport disorder LEXMATCH -MONDO:0016801 mitochondrial substrate carrier disorder skos:exactMatch Orphanet:254830 Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial substrate carrier disorder LEXMATCH -MONDO:0016802 mitochondrial protein import disorder skos:exactMatch Orphanet:254834 Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial protein import disorder LEXMATCH -MONDO:0016806 maternally-inherited mitochondrial dystonia skos:exactMatch Orphanet:254851 Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maternally-inherited mitochondrial dystonia LEXMATCH -MONDO:0016807 pure mitochondrial myopathy skos:exactMatch Orphanet:254854 Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure mitochondrial myopathy LEXMATCH -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia with epilepsy LEXMATCH -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia skos:exactMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive progressive external ophthalmoplegia LEXMATCH -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome skos:exactMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubulopathy-encephalopathy-liver failure syndrome LEXMATCH -MONDO:0016812 dopa-responsive dystonia skos:exactMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dopa-responsive dystonia LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited infantile subacute necrotizing encephalopathy LEXMATCH -MONDO:0016814 maternally-inherited Leigh syndrome skos:exactMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited leigh disease LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ear-patella-short stature syndrome LEXMATCH -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome LEXMATCH -MONDO:0016818 Mikati-Najjar-Sahli syndrome skos:exactMatch Orphanet:2558 Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mikati-najjar-sahli syndrome LEXMATCH -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:exactMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome LEXMATCH -MONDO:0016820 Moyamoya disease skos:exactMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease LEXMATCH -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:exactMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myalgia-eosinophilia syndrome associated with tryptophan LEXMATCH -MONDO:0016823 mycetoma skos:exactMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma LEXMATCH -MONDO:0016824 infantile myofibromatosis skos:exactMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile myofibromatosis LEXMATCH -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:exactMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy-lactic acidosis-deafness syndrome LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis LEXMATCH -MONDO:0016826 methylmalonic aciduria and homocystinuria skos:exactMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria LEXMATCH -MONDO:0016828 autosomal recessive sideroblastic anemia skos:exactMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive sideroblastic anemia LEXMATCH -MONDO:0016829 familial visceral myopathy skos:exactMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial visceral myopathy LEXMATCH -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emery-dreifuss muscular dystrophy LEXMATCH -MONDO:0016831 linear verrucous nevus syndrome skos:exactMatch Orphanet:2611 Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear verrucous nevus syndrome LEXMATCH -MONDO:0016832 distal 7q11.23 microduplication syndrome skos:exactMatch Orphanet:261102 Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 7q11.23 microduplication syndrome LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:exactMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(14)(q12) LEXMATCH -MONDO:0016833 14q12 microdeletion syndrome skos:exactMatch Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q12 LEXMATCH -MONDO:0016834 16p11.2p12.2 microduplication syndrome skos:exactMatch Orphanet:261204 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p11.2p12.2 microduplication syndrome LEXMATCH -MONDO:0016835 14q11.2 microduplication syndrome skos:exactMatch Orphanet:261229 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q11.2 microduplication syndrome LEXMATCH -MONDO:0016836 16p13.11 microdeletion syndrome skos:exactMatch Orphanet:261236 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p13.11 microdeletion syndrome LEXMATCH -MONDO:0016837 16p13.11 microduplication syndrome skos:exactMatch Orphanet:261243 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p13.11 microduplication syndrome LEXMATCH -MONDO:0016838 16q24.3 microdeletion syndrome skos:exactMatch Orphanet:261250 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16q24.3 microdeletion syndrome LEXMATCH -MONDO:0016839 distal 17p13.3 microdeletion syndrome skos:exactMatch Orphanet:261257 Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 17p13.3 microdeletion syndrome LEXMATCH -MONDO:0016840 trisomy 17p skos:exactMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 17p LEXMATCH -MONDO:0016841 20p12.3 microdeletion syndrome skos:exactMatch Orphanet:261295 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20p12.3 microdeletion syndrome LEXMATCH -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome skos:exactMatch Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal 20q13.2q13.3 microdeletion syndrome LEXMATCH -MONDO:0016843 20q13.33 microdeletion syndrome skos:exactMatch Orphanet:261311 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q13.33 microdeletion syndrome LEXMATCH -MONDO:0016844 trisomy 20p skos:exactMatch Orphanet:261318 Trisomy 20p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 20p LEXMATCH -MONDO:0016845 21q22.11q22.12 microdeletion syndrome skos:exactMatch Orphanet:261323 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 21q22.11q22.12 microdeletion syndrome LEXMATCH -MONDO:0016846 distal 22q11.2 microduplication syndrome skos:exactMatch Orphanet:261337 Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 22q11.2 microduplication syndrome LEXMATCH -MONDO:0016847 trisomy 1q skos:exactMatch Orphanet:261344 Trisomy 1q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 1q LEXMATCH -MONDO:0016848 juvenile temporal arteritis skos:exactMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile temporal arteritis LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:exactMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical norrie disease due to del(x)(p11.3) LEXMATCH -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 skos:exactMatch Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical norrie disease due to xp11.3 microdeletion LEXMATCH -MONDO:0016851 maternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261519 Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome x LEXMATCH -MONDO:0016852 paternal uniparental disomy of chromosome X skos:exactMatch Orphanet:261524 Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome x LEXMATCH -MONDO:0016853 ring chromosome Y skos:exactMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(y) LEXMATCH -MONDO:0016853 ring chromosome Y skos:exactMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome y LEXMATCH -MONDO:0016854 49,XXXYY syndrome skos:exactMatch Orphanet:261534 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxyy syndrome LEXMATCH -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 skos:exactMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome due to monosomy 2q22 LEXMATCH -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation skos:exactMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome due to a zeb2 point mutation LEXMATCH -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion skos:exactMatch Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis due to 5q22.2 microdeletion LEXMATCH -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion skos:exactMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to 20p12 microdeletion LEXMATCH -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:exactMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to a jag1 point mutation LEXMATCH -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion skos:exactMatch Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label okihiro syndrome due to 20q13 microdeletion LEXMATCH -MONDO:0016864 Okihiro syndrome due to a point mutation skos:exactMatch Orphanet:261647 Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label okihiro syndrome due to a point mutation LEXMATCH -MONDO:0016865 Kleefstra syndrome due to a point mutation skos:exactMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome due to a point mutation LEXMATCH -MONDO:0016866 partial deletion of chromosome 1 skos:exactMatch Orphanet:261766 Partial deletion of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 1 LEXMATCH -MONDO:0016867 partial deletion of chromosome 2 skos:exactMatch Orphanet:261771 Partial deletion of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 2 LEXMATCH -MONDO:0016868 partial deletion of chromosome 3 skos:exactMatch Orphanet:261776 Partial deletion of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 3 LEXMATCH -MONDO:0016869 partial deletion of chromosome 4 skos:exactMatch Orphanet:261781 Partial deletion of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 4 LEXMATCH -MONDO:0016870 partial deletion of chromosome 5 skos:exactMatch Orphanet:261786 Partial deletion of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 5 LEXMATCH -MONDO:0016871 partial deletion of chromosome 6 skos:exactMatch Orphanet:261791 Partial deletion of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 6 LEXMATCH -MONDO:0016872 partial deletion of chromosome 7 skos:exactMatch Orphanet:261796 Partial deletion of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 7 LEXMATCH -MONDO:0016873 partial deletion of chromosome 8 skos:exactMatch Orphanet:261801 Partial deletion of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 8 LEXMATCH -MONDO:0016874 partial deletion of chromosome 9 skos:exactMatch Orphanet:261806 Partial deletion of chromosome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 9 LEXMATCH -MONDO:0016875 partial deletion of chromosome 10 skos:exactMatch Orphanet:261811 Partial deletion of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 10 LEXMATCH -MONDO:0016876 partial deletion of chromosome 11 skos:exactMatch Orphanet:261816 Partial deletion of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 11 LEXMATCH -MONDO:0016877 partial deletion of the long arm of chromosome 12 skos:exactMatch Orphanet:261821 Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 12 LEXMATCH -MONDO:0016878 partial deletion of chromosome 16 skos:exactMatch Orphanet:261826 Partial deletion of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 16 LEXMATCH -MONDO:0016879 partial deletion of chromosome 17 skos:exactMatch Orphanet:261831 Partial deletion of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 17 LEXMATCH -MONDO:0016880 partial deletion of chromosome 18 skos:exactMatch Orphanet:261836 Partial deletion of chromosome 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 18 LEXMATCH -MONDO:0016881 partial deletion of chromosome 19 skos:exactMatch Orphanet:261841 Partial deletion of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 19 LEXMATCH -MONDO:0016882 partial deletion of chromosome 20 skos:exactMatch Orphanet:261846 Partial deletion of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 20 LEXMATCH -MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:exactMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 1 LEXMATCH -MONDO:0016884 partial deletion of the short arm of chromosome 2 skos:exactMatch Orphanet:261866 Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 2 LEXMATCH -MONDO:0016885 partial deletion of the short arm of chromosome 3 skos:exactMatch Orphanet:261875 Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 3 LEXMATCH -MONDO:0016887 partial deletion of the short arm of chromosome 5 skos:exactMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 5 LEXMATCH -MONDO:0016888 partial deletion of the short arm of chromosome 6 skos:exactMatch Orphanet:261902 Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 6 LEXMATCH -MONDO:0016889 partial deletion of the short arm of chromosome 7 skos:exactMatch Orphanet:261911 Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 7 LEXMATCH -MONDO:0016890 partial deletion of the short arm of chromosome 8 skos:exactMatch Orphanet:261920 Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 8 LEXMATCH -MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:exactMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 10 LEXMATCH -MONDO:0016893 partial deletion of the short arm of chromosome 11 skos:exactMatch Orphanet:261947 Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 11 LEXMATCH -MONDO:0016894 partial deletion of the short arm of chromosome 16 skos:exactMatch Orphanet:261956 Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 16 LEXMATCH -MONDO:0016897 partial deletion of the short arm of chromosome 19 skos:exactMatch Orphanet:261983 Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 19 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 20p LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 20p LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure partial 20p deletion LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 20 LEXMATCH -MONDO:0016898 partial monosomy of the short arm of chromosome 20 skos:exactMatch Orphanet:261992 Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the short arm of chromosome 20 LEXMATCH -MONDO:0016901 partial deletion of the long arm of chromosome 2 skos:exactMatch Orphanet:262010 Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 2 LEXMATCH -MONDO:0016902 partial deletion of the long arm of chromosome 3 skos:exactMatch Orphanet:262019 Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 3 LEXMATCH -MONDO:0016903 partial deletion of the long arm of chromosome 4 skos:exactMatch Orphanet:262029 Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 4 LEXMATCH -MONDO:0016904 partial deletion of the long arm of chromosome 5 skos:exactMatch Orphanet:262038 Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 5 LEXMATCH -MONDO:0016905 partial deletion of the long arm of chromosome 6 skos:exactMatch Orphanet:262047 Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 6 LEXMATCH -MONDO:0016906 partial deletion of the long arm of chromosome 7 skos:exactMatch Orphanet:262056 Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 7 LEXMATCH -MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:exactMatch Orphanet:262065 Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 8 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 9q LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 9q LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 9 LEXMATCH -MONDO:0016908 partial monosomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262074 Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the long arm of chromosome 9 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 10q LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 10q LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 10 LEXMATCH -MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:exactMatch Orphanet:262083 Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the long arm of chromosome 10 LEXMATCH -MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:exactMatch Orphanet:262092 Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 11 LEXMATCH -MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:exactMatch Orphanet:262101 Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 13 LEXMATCH -MONDO:0016912 partial deletion of the long arm of chromosome 14 skos:exactMatch Orphanet:262110 Partial deletion of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 14 LEXMATCH -MONDO:0016913 partial deletion of the long arm of chromosome 15 skos:exactMatch Orphanet:262119 Partial deletion of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 15 LEXMATCH -MONDO:0016914 partial deletion of the long arm of chromosome 16 skos:exactMatch Orphanet:262128 Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 16 LEXMATCH -MONDO:0016915 partial deletion of the long arm of chromosome 17 skos:exactMatch Orphanet:262137 Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 17 LEXMATCH -MONDO:0016917 partial deletion of the long arm of chromosome 19 skos:exactMatch Orphanet:262155 Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 19 LEXMATCH -MONDO:0016918 partial deletion of the long arm of chromosome 20 skos:exactMatch Orphanet:262164 Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 20 LEXMATCH -MONDO:0016919 partial deletion of the long arm of chromosome 21 skos:exactMatch Orphanet:262173 Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 21 LEXMATCH -MONDO:0016921 partial duplication of chromosome 1 skos:exactMatch Orphanet:262191 Partial duplication of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 1 LEXMATCH -MONDO:0016922 partial duplication of chromosome 2 skos:exactMatch Orphanet:262196 Partial duplication of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 2 LEXMATCH -MONDO:0016923 partial duplication of chromosome 3 skos:exactMatch Orphanet:262201 Partial duplication of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 3 LEXMATCH -MONDO:0016924 partial duplication of chromosome 4 skos:exactMatch Orphanet:262206 Partial duplication of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 4 LEXMATCH -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:exactMatch Orphanet:262211 Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of chromosome 5 LEXMATCH -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 skos:exactMatch Orphanet:262211 Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 5 LEXMATCH -MONDO:0016927 partial duplication of chromosome 6 skos:exactMatch Orphanet:262628 Partial duplication of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 6 LEXMATCH -MONDO:0016928 partial duplication of chromosome 7 skos:exactMatch Orphanet:262633 Partial duplication of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 7 LEXMATCH -MONDO:0016929 partial duplication of chromosome 8 skos:exactMatch Orphanet:262638 Partial duplication of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 8 LEXMATCH -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:exactMatch Orphanet:262643 Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of chromosome 9 LEXMATCH -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 skos:exactMatch Orphanet:262643 Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 9 LEXMATCH -MONDO:0016931 partial duplication of chromosome 10 skos:exactMatch Orphanet:262648 Partial duplication of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 10 LEXMATCH -MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch Orphanet:262653 Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 11 LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication/triplication of chromosome 12p LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 12p LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of the short arm of chromosome 12 LEXMATCH -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 skos:exactMatch Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of the short arm of chromosome 12 LEXMATCH -MONDO:0016934 partial duplication of chromosome 16 skos:exactMatch Orphanet:262672 Partial duplication of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 16 LEXMATCH -MONDO:0016935 partial duplication of chromosome 17 skos:exactMatch Orphanet:262677 Partial duplication of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 17 LEXMATCH -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:exactMatch Orphanet:262682 Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of chromosome 18 LEXMATCH -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 skos:exactMatch Orphanet:262682 Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 18 LEXMATCH -MONDO:0016937 partial duplication of chromosome 19 skos:exactMatch Orphanet:262687 Partial duplication of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 19 LEXMATCH -MONDO:0016938 partial trisomy of chromosome 20 skos:exactMatch Orphanet:262692 Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of chromosome 20 LEXMATCH -MONDO:0016938 partial trisomy of chromosome 20 skos:exactMatch Orphanet:262692 Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of chromosome 20 LEXMATCH -MONDO:0016939 partial duplication of the short arm of chromosome 2 skos:exactMatch Orphanet:262698 Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 2 LEXMATCH -MONDO:0016940 partial duplication of the short arm of chromosome 3 skos:exactMatch Orphanet:262707 Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 3 LEXMATCH -MONDO:0016941 partial duplication of the short arm of chromosome 4 skos:exactMatch Orphanet:262716 Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 4 LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication/triplication of chromosome 5p LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 5p LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of the short arm of chromosome 5 LEXMATCH -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 skos:exactMatch Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of the short arm of chromosome 5 LEXMATCH -MONDO:0016943 partial duplication of the short arm of chromosome 6 skos:exactMatch Orphanet:262740 Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 6 LEXMATCH -MONDO:0016944 partial duplication of the short arm of chromosome 7 skos:exactMatch Orphanet:262749 Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 7 LEXMATCH -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:exactMatch Orphanet:262758 Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 8 LEXMATCH -MONDO:0016947 partial duplication of the short arm of chromosome 10 skos:exactMatch Orphanet:262776 Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 10 LEXMATCH -MONDO:0016948 partial duplication of the short arm of chromosome 11 skos:exactMatch Orphanet:262785 Partial duplication of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 11 LEXMATCH -MONDO:0016949 partial duplication of the short arm of chromosome 16 skos:exactMatch Orphanet:262794 Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 16 LEXMATCH -MONDO:0016950 partial duplication of the short arm of chromosome 17 skos:exactMatch Orphanet:262803 Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 17 LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication/triplication of chromosome 18p LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 18p LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of the short arm of chromosome 18 LEXMATCH -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 skos:exactMatch Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of the short arm of chromosome 18 LEXMATCH -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch Orphanet:262833 Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 1 LEXMATCH -MONDO:0016953 partial duplication of the long arm of chromosome 2 skos:exactMatch Orphanet:262842 Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 2 LEXMATCH -MONDO:0016954 partial duplication of the long arm of chromosome 3 skos:exactMatch Orphanet:262851 Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 3 LEXMATCH -MONDO:0016955 partial duplication of the long arm of chromosome 4 skos:exactMatch Orphanet:262860 Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 4 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 5q LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 5q LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 5 LEXMATCH -MONDO:0016956 partial trisomy of the long arm of chromosome 5 skos:exactMatch Orphanet:262869 Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 5 LEXMATCH -MONDO:0016957 partial duplication of the long arm of chromosome 6 skos:exactMatch Orphanet:262878 Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 6 LEXMATCH -MONDO:0016958 partial duplication of the long arm of chromosome 7 skos:exactMatch Orphanet:262887 Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 7 LEXMATCH -MONDO:0016959 partial duplication of the long arm of chromosome 8 skos:exactMatch Orphanet:262896 Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 8 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 9q LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 9q LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 9 LEXMATCH -MONDO:0016960 partial trisomy of the long arm of chromosome 9 skos:exactMatch Orphanet:262905 Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 9 LEXMATCH -MONDO:0016961 partial duplication of the long arm of chromosome 10 skos:exactMatch Orphanet:262914 Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 10 LEXMATCH -MONDO:0016964 partial duplication of the long arm of chromosome 14 skos:exactMatch Orphanet:262941 Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 14 LEXMATCH -MONDO:0016965 partial duplication of the long arm of chromosome 15 skos:exactMatch Orphanet:262950 Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 15 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 16q LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 16q LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 16 LEXMATCH -MONDO:0016966 partial trisomy of the long arm of chromosome 16 skos:exactMatch Orphanet:262959 Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 16 LEXMATCH -MONDO:0016967 partial duplication of the long arm of chromosome 17 skos:exactMatch Orphanet:262968 Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 17 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 18q LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 18q LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 18 LEXMATCH -MONDO:0016968 partial trisomy of the long arm of chromosome 18 skos:exactMatch Orphanet:262977 Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 18 LEXMATCH -MONDO:0016969 partial duplication of the long arm of chromosome 19 skos:exactMatch Orphanet:262986 Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 19 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 20q LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 20q LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 20 LEXMATCH -MONDO:0016970 partial trisomy of the long arm of chromosome 20 skos:exactMatch Orphanet:262995 Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 20 LEXMATCH -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-girdle muscular dystrophy LEXMATCH -MONDO:0016972 partial duplication of the long arm of chromosome 22 skos:exactMatch Orphanet:263004 Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 22 LEXMATCH -MONDO:0016974 thymoma type B skos:exactMatch Orphanet:263317 Thymoma type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type b LEXMATCH -MONDO:0016975 thymoma type AB skos:exactMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type ab LEXMATCH -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated thymic neuroendocrine carcinoma LEXMATCH -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moderately-differentiated thymic neuroendocrine carcinoma LEXMATCH -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma skos:exactMatch Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poorly differentiated thymic neuroendocrine carcinoma LEXMATCH -MONDO:0016979 MRCS syndrome skos:exactMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mrcs syndrome LEXMATCH -MONDO:0016982 angiosarcoma skos:exactMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiosarcoma LEXMATCH -MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type v LEXMATCH -MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 5 LEXMATCH -MONDO:0016984 nevus of Ota skos:exactMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus of ota LEXMATCH -MONDO:0016985 nevus of Ito skos:exactMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus of ito LEXMATCH -MONDO:0016986 congenital smooth muscle hamartoma skos:exactMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital smooth muscle hamartoma LEXMATCH -MONDO:0016987 neuroacanthocytosis skos:exactMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroacanthocytosis LEXMATCH -MONDO:0016988 hyperinsulinism due to HNF4A deficiency skos:exactMatch Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to hnf4a deficiency LEXMATCH -MONDO:0016989 Fuchs heterochromic iridocyclitis skos:exactMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fuchs heterochromic iridocyclitis LEXMATCH -MONDO:0016990 acquired prothrombin deficiency skos:exactMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired prothrombin deficiency LEXMATCH -MONDO:0016991 acute necrotizing encephalopathy of childhood skos:exactMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute necrotizing encephalopathy of childhood LEXMATCH -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic primordial dwarfism types i and iii LEXMATCH -MONDO:0016995 familial multiple meningioma skos:exactMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple meningioma LEXMATCH -MONDO:0016996 NK-cell enteropathy skos:exactMatch Orphanet:263665 NK-cell enteropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nk-cell enteropathy LEXMATCH -MONDO:0017003 partial deletion of chromosome X skos:exactMatch Orphanet:263726 Partial deletion of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome x LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome xp LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of the short arm of chromosome x LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome xp LEXMATCH -MONDO:0017004 partial monosomy of the short arm of chromosome X skos:exactMatch Orphanet:263731 Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the short arm of chromosome x LEXMATCH -MONDO:0017007 partial deletion of the long arm of chromosome X skos:exactMatch Orphanet:263756 Partial deletion of the long arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome x LEXMATCH -MONDO:0017008 partial duplication of chromosome X skos:exactMatch Orphanet:263768 Partial duplication of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome x LEXMATCH -MONDO:0017009 partial duplication of the short arm of chromosome X skos:exactMatch Orphanet:263775 Partial duplication of the short arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome x LEXMATCH -MONDO:0017010 partial duplication of the long arm of chromosome X skos:exactMatch Orphanet:263783 Partial duplication of the long arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome x LEXMATCH -MONDO:0017012 partial duplication of the short arm of chromosome 1 skos:exactMatch Orphanet:264431 Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 1 LEXMATCH -MONDO:0017013 trisomy 8p skos:exactMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 8p LEXMATCH -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome LEXMATCH -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:264656 Interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to childhood LEXMATCH -MONDO:0017015 primary interstitial lung disease specific to childhood skos:exactMatch Orphanet:264665 Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary interstitial lung disease specific to childhood LEXMATCH -MONDO:0017018 isolated pulmonary capillaritis skos:exactMatch Orphanet:264691 Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated pulmonary capillaritis LEXMATCH -MONDO:0017019 interstitial lung disease specific to infancy skos:exactMatch Orphanet:264694 Interstitial lung disease specific to infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to infancy LEXMATCH -MONDO:0017026 interstitial lung disease specific to adulthood skos:exactMatch Orphanet:264735 Interstitial lung disease specific to adulthood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to adulthood LEXMATCH -MONDO:0017039 drug or radiation exposure-related interstitial lung disease skos:exactMatch Orphanet:264978 Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug or radiation exposure-related interstitial lung disease LEXMATCH -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome skos:exactMatch Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome LEXMATCH -MONDO:0017042 thanatophoric dysplasia skos:exactMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia LEXMATCH -MONDO:0017043 congenital mesoblastic nephroma skos:exactMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mesoblastic nephroma LEXMATCH -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome skos:exactMatch Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult familial nephronophthisis-spastic quadriparesia syndrome LEXMATCH -MONDO:0017048 pseudomyxoma peritonei skos:exactMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyxoma peritonei LEXMATCH -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome skos:exactMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination neuropathy-arthrogryposis syndrome LEXMATCH -MONDO:0017050 intraocular medulloepithelioma skos:exactMatch Orphanet:268139 Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraocular medulloepithelioma LEXMATCH -MONDO:0017051 classic maple syrup urine disease skos:exactMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic maple syrup urine disease LEXMATCH -MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate maple syrup urine disease LEXMATCH -MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent maple syrup urine disease LEXMATCH -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiamine-responsive maple syrup urine disease LEXMATCH -MONDO:0017055 mycophenolate mofetil embryopathy skos:exactMatch Orphanet:268249 Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycophenolate mofetil embryopathy LEXMATCH -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion skos:exactMatch Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion LEXMATCH -MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive intermediate charcot-marie-tooth disease LEXMATCH -MONDO:0017060 open iniencephaly skos:exactMatch Orphanet:268363 Open iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label open iniencephaly LEXMATCH -MONDO:0017061 closed iniencephaly skos:exactMatch Orphanet:268366 Closed iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label closed iniencephaly LEXMATCH -MONDO:0017062 spina bifida aperta skos:exactMatch Orphanet:268369 Open spinal dysraphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida aperta LEXMATCH -MONDO:0017069 spina bifida cystica skos:exactMatch Orphanet:268744 Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida cystica LEXMATCH -MONDO:0017077 myelocystocele skos:exactMatch Orphanet:268813 Myelocystocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelocystocele LEXMATCH -MONDO:0017078 cephalocele skos:exactMatch Orphanet:268817 Cephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cephalocele LEXMATCH -MONDO:0017080 occipital encephalocele skos:exactMatch Orphanet:268823 Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele LEXMATCH -MONDO:0017081 parietal encephalocele skos:exactMatch Orphanet:268826 Parietal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parietal encephalocele LEXMATCH -MONDO:0017082 basal encephalocele skos:exactMatch Orphanet:268829 Basal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label basal encephalocele LEXMATCH -MONDO:0017086 primary tethered cord syndrome skos:exactMatch Orphanet:268861 Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tethered cord syndrome LEXMATCH -MONDO:0017087 neurenteric cyst skos:exactMatch Orphanet:268865 Neurenteric cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurenteric cyst LEXMATCH -MONDO:0017088 isolated amyelia skos:exactMatch Orphanet:268868 Isolated amyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated amyelia LEXMATCH -MONDO:0017089 isolated megalencephaly skos:exactMatch Orphanet:268920 Isolated megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated megalencephaly LEXMATCH -MONDO:0017091 bilateral polymicrogyria skos:exactMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral polymicrogyria LEXMATCH -MONDO:0017092 unilateral polymicrogyria skos:exactMatch Orphanet:268943 Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral polymicrogyria LEXMATCH -MONDO:0017093 unilateral focal polymicrogyria skos:exactMatch Orphanet:268947 Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral focal polymicrogyria LEXMATCH -MONDO:0017094 cerebral cortical dysplasia skos:exactMatch Orphanet:268950 Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral cortical dysplasia LEXMATCH -MONDO:0017095 isolated focal cortical dysplasia type I skos:exactMatch Orphanet:268961 Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type i LEXMATCH -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch Orphanet:268973 Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ia LEXMATCH -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch Orphanet:268980 Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ib LEXMATCH -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch Orphanet:268987 Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ic LEXMATCH -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome skos:exactMatch Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia-monocytopenia-deafness syndrome LEXMATCH -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type iia LEXMATCH -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type iib LEXMATCH -MONDO:0017103 encephaloclastic disorder skos:exactMatch Orphanet:269190 Encephaloclastic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephaloclastic disorder LEXMATCH -MONDO:0017105 glioependymal/ependymal cyst skos:exactMatch Orphanet:269197 Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glioependymal/ependymal cyst LEXMATCH -MONDO:0017107 isolated cerebellar vermis agenesis skos:exactMatch Orphanet:269203 Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cerebellar vermis agenesis LEXMATCH -MONDO:0017108 isolated total cerebellar vermis agenesis skos:exactMatch Orphanet:269206 Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated total cerebellar vermis agenesis LEXMATCH -MONDO:0017109 isolated partial cerebellar vermis agenesis skos:exactMatch Orphanet:269209 Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated partial cerebellar vermis agenesis LEXMATCH -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus skos:exactMatch Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dandy-walker malformation with hydrocephalus LEXMATCH -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus skos:exactMatch Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dandy-walker malformation without hydrocephalus LEXMATCH -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated unilateral hemispheric cerebellar hypoplasia LEXMATCH -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia skos:exactMatch Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated bilateral hemispheric cerebellar hypoplasia LEXMATCH -MONDO:0017116 congenital communicating hydrocephalus skos:exactMatch Orphanet:269505 Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital communicating hydrocephalus LEXMATCH -MONDO:0017117 congenital non-communicating hydrocephalus skos:exactMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital non-communicating hydrocephalus LEXMATCH -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-renal dysfunction-cholestasis syndrome LEXMATCH -MONDO:0017124 noma skos:exactMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noma LEXMATCH -MONDO:0017131 hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic cardiac anomaly LEXMATCH -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome skos:exactMatch Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-onycho dysplasia-alopecia syndrome LEXMATCH -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome skos:exactMatch Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olivopontocerebellar atrophy-deafness syndrome LEXMATCH -MONDO:0017136 omodysplasia skos:exactMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omodysplasia LEXMATCH -MONDO:0017137 onchocerciasis skos:exactMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertelorism-oesophageal abnormality-hypospadias syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz-frias syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH -MONDO:0017139 oromandibular-limb hypogenesis syndrome skos:exactMatch Orphanet:2749 Oromandibular-limb hypogenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular-limb hypogenesis syndrome LEXMATCH -MONDO:0017140 L1 syndrome skos:exactMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l1 syndrome LEXMATCH -MONDO:0017145 beta-thalassemia and related diseases skos:exactMatch Orphanet:275749 Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia and related diseases LEXMATCH -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pulmonary arterial hypertension LEXMATCH -MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heritable pulmonary arterial hypertension LEXMATCH -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug- or toxin-induced pulmonary arterial hypertension LEXMATCH -MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia skos:exactMatch Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypertension owing to lung disease and/or hypoxia LEXMATCH -MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behavioral variant of frontotemporal dementia LEXMATCH -MONDO:0017161 frontotemporal dementia with motor neuron disease skos:exactMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia with motor neuron disease LEXMATCH -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:exactMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seghers syndrome LEXMATCH -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization skos:exactMatch Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic disease of the newborn with kell alloimmunization LEXMATCH -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation skos:exactMatch Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bile acid coa ligase deficiency and defective amidation LEXMATCH -MONDO:0017167 malignant epithelial tumor of salivary glands skos:exactMatch Orphanet:276145 Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant epithelial tumor of salivary glands LEXMATCH -MONDO:0017168 benign epithelial tumor of salivary glands skos:exactMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign epithelial tumor of salivary glands LEXMATCH -MONDO:0017169 multiple endocrine neoplasia skos:exactMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia LEXMATCH -MONDO:0017170 idiopathic recurrent stupor skos:exactMatch Orphanet:276174 Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic recurrent stupor LEXMATCH -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing skos:exactMatch Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6, rapidly progressing LEXMATCH -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing skos:exactMatch Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6, slowly progressing LEXMATCH -MONDO:0017174 Machado-Joseph disease type 1 skos:exactMatch Orphanet:276238 Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 1 LEXMATCH -MONDO:0017175 Machado-Joseph disease type 2 skos:exactMatch Orphanet:276241 Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 2 LEXMATCH -MONDO:0017176 Machado-Joseph disease type 3 skos:exactMatch Orphanet:276244 Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 3 LEXMATCH -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome skos:exactMatch Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemihyperplasia-multiple lipomatosis syndrome LEXMATCH -MONDO:0017178 osteochondritis dissecans skos:exactMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans LEXMATCH -MONDO:0017180 10q22.3q23.3 microduplication syndrome skos:exactMatch Orphanet:276422 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 10q22.3q23.3 microduplication syndrome LEXMATCH -MONDO:0017181 hypnic headache skos:exactMatch Orphanet:276429 Hypnic headache semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypnic headache LEXMATCH -MONDO:0017182 familial hyperinsulinism skos:exactMatch Orphanet:276525 Familial hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinsulinism LEXMATCH -MONDO:0017183 hyperinsulinism due to UCP2 deficiency skos:exactMatch Orphanet:276556 Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to ucp2 deficiency LEXMATCH -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hyperinsulinism due to sur1 deficiency LEXMATCH -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hyperinsulinism due to kir6.2 deficiency LEXMATCH -MONDO:0017186 diazoxide-resistant hyperinsulinism skos:exactMatch Orphanet:276585 Diazoxide-resistant hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant hyperinsulinism LEXMATCH -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism due to sur1 deficiency LEXMATCH -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency LEXMATCH -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma skos:exactMatch Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic pheochromocytoma/secreting paraganglioma LEXMATCH -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers skos:exactMatch Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of coffin-lowry syndrome in female carriers LEXMATCH -MONDO:0017194 Blount disease skos:exactMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blount disease LEXMATCH -MONDO:0017195 Bruck syndrome skos:exactMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruck syndrome LEXMATCH -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome skos:exactMatch Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome LEXMATCH -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:exactMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopathia striata-pigmentary dermopathy-white forelock syndrome LEXMATCH -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome skos:exactMatch Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome LEXMATCH -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler-christmas-chapple syndrome LEXMATCH -MONDO:0017201 Spasmus nutans skos:exactMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spasmus nutans LEXMATCH -MONDO:0017202 acute endophthalmitis skos:exactMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute endophthalmitis LEXMATCH -MONDO:0017203 chronic endophthalmitis skos:exactMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic endophthalmitis LEXMATCH -MONDO:0017204 toxic maculopathy due to antimalarial drugs skos:exactMatch Orphanet:279894 Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic maculopathy due to antimalarial drugs LEXMATCH -MONDO:0017205 primary oculocerebral lymphoma skos:exactMatch Orphanet:279897 Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary oculocerebral lymphoma LEXMATCH -MONDO:0017207 primary organ-specific lymphoma skos:exactMatch Orphanet:279911 Primary organ-specific lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary organ-specific lymphoma LEXMATCH -MONDO:0017209 infectious posterior uveitis skos:exactMatch Orphanet:279919 Infectious posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious posterior uveitis LEXMATCH -MONDO:0017210 infectious anterior uveitis skos:exactMatch Orphanet:279922 Infectious anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious anterior uveitis LEXMATCH -MONDO:0017211 infectious panuveitis skos:exactMatch Orphanet:279925 Infectious panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious panuveitis LEXMATCH -MONDO:0017212 paraneoplastic uveitis skos:exactMatch Orphanet:279928 Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic uveitis LEXMATCH -MONDO:0017213 postorgasmic illness syndrome skos:exactMatch Orphanet:279947 Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postorgasmic illness syndrome LEXMATCH -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia skos:exactMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-responsive methylmalonic acidemia LEXMATCH -MONDO:0017215 calciphylaxis skos:exactMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calciphylaxis LEXMATCH -MONDO:0017216 calciphylaxis cutis skos:exactMatch Orphanet:280065 Calciphylaxis cutis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calciphylaxis cutis LEXMATCH -MONDO:0017217 visceral calciphylaxis skos:exactMatch Orphanet:280068 Visceral calciphylaxis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral calciphylaxis LEXMATCH -MONDO:0017219 microform holoprosencephaly skos:exactMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microform holoprosencephaly LEXMATCH -MONDO:0017220 laryngotracheoesophageal cleft type 0 skos:exactMatch Orphanet:280205 Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 0 LEXMATCH -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form skos:exactMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, connatal form LEXMATCH -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form skos:exactMatch Orphanet:280219 Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, classic form LEXMATCH -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form skos:exactMatch Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, transitional form LEXMATCH -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers skos:exactMatch Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease in female carriers LEXMATCH -MONDO:0017225 null syndrome skos:exactMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label null syndrome LEXMATCH -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher-like disease LEXMATCH -MONDO:0017227 autoimmune pancreatitis type 1 skos:exactMatch Orphanet:280302 Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis type 1 LEXMATCH -MONDO:0017228 autoimmune pancreatitis type 2 skos:exactMatch Orphanet:280315 Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis type 2 LEXMATCH -MONDO:0017229 distal monosomy 12p skos:exactMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 12p13.33 microdeletion syndrome LEXMATCH -MONDO:0017229 distal monosomy 12p skos:exactMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(12)(p13.33) LEXMATCH -MONDO:0017229 distal monosomy 12p skos:exactMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 12p LEXMATCH -MONDO:0017229 distal monosomy 12p skos:exactMatch Orphanet:280325 Distal deletion 12p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 12p LEXMATCH -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy skos:exactMatch Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal semi-dominant severe lipodystrophic laminopathy LEXMATCH -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy skos:exactMatch Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic uroporphyria associated with myeloid malignancy LEXMATCH -MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome skos:exactMatch Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome LEXMATCH -MONDO:0017233 familial Alzheimer-like prion disease skos:exactMatch Orphanet:280397 Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial alzheimer-like prion disease LEXMATCH -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism skos:exactMatch Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial omphalocele syndrome with facial dysmorphism LEXMATCH -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin skos:exactMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensorimotor neuropathy with hyperelastic skin LEXMATCH -MONDO:0017238 hemoglobinopathy Toms River skos:exactMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy toms river LEXMATCH -MONDO:0017239 familial progressive hyper- and hypopigmentation skos:exactMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive hyper- and hypopigmentation LEXMATCH -MONDO:0017242 cutaneous collagenous vasculopathy skos:exactMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous collagenous vasculopathy LEXMATCH -MONDO:0017243 bullous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280785 Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous diffuse cutaneous mastocytosis LEXMATCH -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis skos:exactMatch Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthomatous diffuse cutaneous mastocytosis LEXMATCH -MONDO:0017245 intralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280802 Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intralobar congenital pulmonary sequestration LEXMATCH -MONDO:0017246 extralobar congenital pulmonary sequestration skos:exactMatch Orphanet:280811 Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extralobar congenital pulmonary sequestration LEXMATCH -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation skos:exactMatch Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating congenital bronchopulmonary-foregut malformation LEXMATCH -MONDO:0017248 congenital pulmonary airway malformation type 0 skos:exactMatch Orphanet:280827 Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 0 LEXMATCH -MONDO:0017249 congenital pulmonary airway malformation type 1 skos:exactMatch Orphanet:280832 Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 1 LEXMATCH -MONDO:0017250 congenital pulmonary airway malformation type 2 skos:exactMatch Orphanet:280840 Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 2 LEXMATCH -MONDO:0017251 congenital pulmonary airway malformation type 3 skos:exactMatch Orphanet:280847 Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 3 LEXMATCH -MONDO:0017252 congenital pulmonary airway malformation type 4 skos:exactMatch Orphanet:280854 Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 4 LEXMATCH -MONDO:0017255 panuveitis skos:exactMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panuveitis LEXMATCH -MONDO:0017257 idiopathic posterior uveitis skos:exactMatch Orphanet:280917 Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic posterior uveitis LEXMATCH -MONDO:0017258 idiopathic panuveitis skos:exactMatch Orphanet:280921 Idiopathic panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic panuveitis LEXMATCH -MONDO:0017264 syndromic recessive X-linked ichthyosis skos:exactMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic recessive x-linked ichthyosis LEXMATCH -MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch Orphanet:281097 Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive congenital ichthyosis LEXMATCH -MONDO:0017266 keratinopathic ichthyosis skos:exactMatch Orphanet:281103 Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratinopathic ichthyosis LEXMATCH -MONDO:0017267 self-healing collodion baby skos:exactMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym self-improving congenital ichthyosis LEXMATCH -MONDO:0017267 self-healing collodion baby skos:exactMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym self-healing collodion baby LEXMATCH -MONDO:0017268 acral self-healing collodion baby skos:exactMatch Orphanet:281127 Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral self-healing collodion baby LEXMATCH -MONDO:0017269 X-linked ichthyosis syndrome skos:exactMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked ichthyosis syndrome LEXMATCH -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:exactMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-facial-cutaneous lesions syndrome LEXMATCH -MONDO:0017276 frontotemporal dementia skos:exactMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia LEXMATCH -MONDO:0017277 partial deletion of chromosome 12 skos:exactMatch Orphanet:282124 Partial deletion of chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 12 LEXMATCH -MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy LEXMATCH -MONDO:0017279 young-onset Parkinson disease skos:exactMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label young-onset parkinson disease LEXMATCH -MONDO:0017280 demodicidosis skos:exactMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label demodicidosis LEXMATCH -MONDO:0017281 renal caliceal diverticuli-deafness syndrome skos:exactMatch Orphanet:2838 Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal caliceal diverticuli-deafness syndrome LEXMATCH -MONDO:0017282 alveolar echinococcosis skos:exactMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alveolar echinococcosis LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 10p12p11 microdeletion syndrome LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(10)(p11.21p12.31) LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 10p11.21p12.31 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10p11.21p12.31 LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion LEXMATCH -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion skos:exactMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome due to 10p11.21p12.31 microdeletion LEXMATCH -MONDO:0017284 Xp22.13p22.2 duplication syndrome skos:exactMatch Orphanet:284180 Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xp22.13p22.2 duplication syndrome LEXMATCH -MONDO:0017285 penoscrotal transposition skos:exactMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label penoscrotal transposition LEXMATCH -MONDO:0017286 tempi syndrome skos:exactMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tempi syndrome LEXMATCH -MONDO:0017287 IgG4-related disease skos:exactMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related disease LEXMATCH -MONDO:0017287 IgG4-related disease skos:exactMatch Orphanet:596448 IgG4-related systemic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label igg4-related systemic disease LEXMATCH -MONDO:0017289 fetal lung interstitial tumor skos:exactMatch Orphanet:284362 Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor LEXMATCH -MONDO:0017290 familial intrahepatic cholestasis skos:exactMatch Orphanet:284385 Familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial intrahepatic cholestasis LEXMATCH -MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:exactMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reversible cerebral vasoconstriction syndrome LEXMATCH -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung skos:exactMatch Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated fetal adenocarcinoma of the lung LEXMATCH -MONDO:0017295 glycerol kinase deficiency, juvenile form skos:exactMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycerol kinase deficiency, juvenile form LEXMATCH -MONDO:0017296 glycerol kinase deficiency, adult form skos:exactMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycerol kinase deficiency, adult form LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:exactMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clippers LEXMATCH -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:exactMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids LEXMATCH -MONDO:0017298 acute zonal occult outer retinopathy skos:exactMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute zonal occult outer retinopathy LEXMATCH -MONDO:0017299 acute annular outer retinopathy skos:exactMatch Orphanet:284460 Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute annular outer retinopathy LEXMATCH -MONDO:0017300 congenital pericardium anomaly skos:exactMatch Orphanet:2846 Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pericardium anomaly LEXMATCH -MONDO:0017301 pericardial and diaphragmatic defect skos:exactMatch Orphanet:2847 Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pericardial and diaphragmatic defect LEXMATCH -MONDO:0017303 qualitative or quantitative defects of tropomyosin skos:exactMatch Orphanet:284790 Qualitative or quantitative defects of tropomyosin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of tropomyosin LEXMATCH -MONDO:0017304 ocular albinism skos:exactMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism LEXMATCH -MONDO:0017305 syndromic oculocutaneous albinism skos:exactMatch Orphanet:284811 Syndromic oculocutaneous albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic oculocutaneous albinism LEXMATCH -MONDO:0017306 disorder of phenylalanine metabolism skos:exactMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of phenylalanine metabolism LEXMATCH -MONDO:0017307 disorder of tyrosine metabolism skos:exactMatch Orphanet:284818 Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of tyrosine metabolism LEXMATCH -MONDO:0017309 neonatal Marfan syndrome skos:exactMatch Orphanet:284979 Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal marfan syndrome LEXMATCH -MONDO:0017312 Perrault syndrome skos:exactMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perrault syndrome LEXMATCH -MONDO:0017313 disorder of folate metabolism and transport skos:exactMatch Orphanet:285657 Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of folate metabolism and transport LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds iv LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 4 LEXMATCH -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sack-barabas syndrome LEXMATCH -MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:exactMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-webbed neck-heart disease syndrome LEXMATCH -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome skos:exactMatch Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-deafness-neutrophil dysfunction-dysmorphism syndrome LEXMATCH -MONDO:0017317 phakomatosis pigmentokeratotica skos:exactMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis pigmentokeratotica LEXMATCH -MONDO:0017318 phakomatosis pigmentovascularis skos:exactMatch Orphanet:2875 Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis pigmentovascularis LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis LEXMATCH -MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ovalocytosis LEXMATCH -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phosphoenolpyruvate carboxykinase deficiency LEXMATCH -MONDO:0017321 pili torti-onychodysplasia syndrome skos:exactMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti-onychodysplasia syndrome LEXMATCH -MONDO:0017322 disorders of vitamin D metabolism skos:exactMatch Orphanet:289098 Disorders of vitamin D metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorders of vitamin d metabolism LEXMATCH -MONDO:0017323 hypocalcemic rickets skos:exactMatch Orphanet:289103 Hypocalcemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcemic rickets LEXMATCH -MONDO:0017324 autosomal recessive hypophosphatemic rickets skos:exactMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hypophosphatemic rickets LEXMATCH -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation skos:exactMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation LEXMATCH -MONDO:0017326 infective dermatitis associated with HTLV-1 skos:exactMatch Orphanet:289347 Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infective dermatitis associated with htlv-1 LEXMATCH -MONDO:0017327 primary non-gestational choriocarcinoma of ovary skos:exactMatch Orphanet:289356 Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary non-gestational choriocarcinoma of ovary LEXMATCH -MONDO:0017328 non-central nervous system-localized embryonal carcinoma skos:exactMatch Orphanet:289362 Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-central nervous system-localized embryonal carcinoma LEXMATCH -MONDO:0017329 familial vesicoureteral reflux skos:exactMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial vesicoureteral reflux LEXMATCH -MONDO:0017330 malignancy diagnosed during pregnancy skos:exactMatch Orphanet:289385 Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignancy diagnosed during pregnancy LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pash syndrome LEXMATCH -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch Orphanet:289478 PASH syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyoderma gangrenosum-acne-suppurative hidradenitis syndrome LEXMATCH -MONDO:0017334 12q15q21.1 microdeletion syndrome skos:exactMatch Orphanet:289513 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12q15q21.1 microdeletion syndrome LEXMATCH -MONDO:0017335 microtriplication 11q24.1 skos:exactMatch Orphanet:289522 Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtriplication 11q24.1 LEXMATCH -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency skos:exactMatch Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency LEXMATCH -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome skos:exactMatch Orphanet:289573 Multiple mitochondrial dysfunctions syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome LEXMATCH -MONDO:0017339 exfoliative ichthyosis skos:exactMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative ichthyosis LEXMATCH -MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch Orphanet:289596 Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile nasopharyngeal angiofibroma LEXMATCH -MONDO:0017342 Epstein-Barr virus-related tumor skos:exactMatch Orphanet:289638 Epstein-Barr Virus-related tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-related tumor LEXMATCH -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:exactMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated malignant lymphoproliferative disorder LEXMATCH -MONDO:0017344 Epstein-Barr virus-associated carcinoma skos:exactMatch Orphanet:289651 Epstein-Barr Virus-associated carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated carcinoma LEXMATCH -MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor skos:exactMatch Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated mesenchymal tumor LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:exactMatch Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly LEXMATCH -MONDO:0017347 plasmablastic lymphoma skos:exactMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmablastic lymphoma LEXMATCH -MONDO:0017348 lymphoepithelial-like carcinoma skos:exactMatch Orphanet:289682 Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoepithelial-like carcinoma LEXMATCH -MONDO:0017349 myopericytoma skos:exactMatch Orphanet:289685 Myopericytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopericytoma LEXMATCH -MONDO:0017352 disorder of glutamine metabolism skos:exactMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glutamine metabolism LEXMATCH -MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal glycine encephalopathy LEXMATCH -MONDO:0017354 infantile glycine encephalopathy skos:exactMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile glycine encephalopathy LEXMATCH -MONDO:0017355 inborn disorder of proline metabolism skos:exactMatch Orphanet:289866 Disorder of proline metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of proline metabolism LEXMATCH -MONDO:0017356 inborn disorder of ornithine metabolism skos:exactMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of ornithine metabolism LEXMATCH -MONDO:0017357 transient hyperammonemia of the newborn skos:exactMatch Orphanet:289877 Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient hyperammonemia of the newborn LEXMATCH -MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria LEXMATCH -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 skos:exactMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-unresponsive methylmalonic acidemia type mut0 LEXMATCH -MONDO:0017361 congenital rubella syndrome skos:exactMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome LEXMATCH -MONDO:0017362 neuralgic amyotrophy skos:exactMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy LEXMATCH -MONDO:0017363 idiopathic chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic chronic eosinophilic pneumonia LEXMATCH -MONDO:0017364 POEMS syndrome skos:exactMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poems syndrome LEXMATCH -MONDO:0017366 hereditary pheochromocytoma-paraganglioma skos:exactMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary pheochromocytoma-paraganglioma LEXMATCH -MONDO:0017372 congenital varicella syndrome skos:exactMatch Orphanet:291 Congenital varicella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital varicella syndrome LEXMATCH -MONDO:0017373 poliomyelitis skos:exactMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poliomyelitis LEXMATCH -MONDO:0017375 congenital enterovirus infection skos:exactMatch Orphanet:292 Congenital enterovirus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enterovirus infection LEXMATCH -MONDO:0017376 reactive arthritis skos:exactMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reactive arthritis LEXMATCH -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:exactMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preaxial polydactyly-colobomata-intellectual disability syndrome LEXMATCH -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome skos:exactMatch Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyneuropathy-intellectual disability-acromicria-premature menopause syndrome LEXMATCH -MONDO:0017380 juvenile polyposis syndrome skos:exactMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polyposis syndrome LEXMATCH -MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch Orphanet:293 Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital herpes simplex virus infection LEXMATCH -MONDO:0017382 familial clubfoot due to 5q31 microdeletion skos:exactMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to 5q31 microdeletion LEXMATCH -MONDO:0017383 familial clubfoot due to PITX1 point mutation skos:exactMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to pitx1 point mutation LEXMATCH -MONDO:0017384 acute generalized exanthematous pustulosis skos:exactMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute generalized exanthematous pustulosis LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant migrating partial epilepsy of infancy LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrating partial epilepsy of infancy LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrating partial seizures of infancy LEXMATCH -MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant migrating partial seizures of infancy LEXMATCH -MONDO:0017386 pleomorphic rhabdomyosarcoma skos:exactMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic rhabdomyosarcoma LEXMATCH -MONDO:0017387 epithelioid sarcoma skos:exactMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid sarcoma LEXMATCH -MONDO:0017388 celiac trunk compression syndrome skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dunbar syndrome LEXMATCH -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria LEXMATCH -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy skos:exactMatch Orphanet:293375 Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grayson-wilbrandt corneal dystrophy LEXMATCH -MONDO:0017392 pre-descemet corneal dystrophy skos:exactMatch Orphanet:293462 Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pre-descemet corneal dystrophy LEXMATCH -MONDO:0017394 ketamine-induced biliary dilatation skos:exactMatch Orphanet:293807 Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ketamine-induced biliary dilatation LEXMATCH -MONDO:0017395 fixed pigmented erythema skos:exactMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fixed drug eruption LEXMATCH -MONDO:0017396 toxic dermatosis skos:exactMatch Orphanet:293815 Toxic dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic dermatosis LEXMATCH -MONDO:0017398 3MC syndrome skos:exactMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3mc syndrome LEXMATCH -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form skos:exactMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, left dominant form LEXMATCH -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form skos:exactMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, biventricular form LEXMATCH -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form skos:exactMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, right dominant form LEXMATCH -MONDO:0017404 distal Xq28 microduplication syndrome skos:exactMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal xq28 microduplication syndrome LEXMATCH -MONDO:0017405 1p21.3 microdeletion syndrome skos:exactMatch Orphanet:293948 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1p21.3 microdeletion syndrome LEXMATCH -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome skos:exactMatch Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome LEXMATCH -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome skos:exactMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym david syndrome LEXMATCH -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome skos:exactMatch Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome LEXMATCH -MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal cytomegalovirus syndrome LEXMATCH -MONDO:0017410 porencephaly skos:exactMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly LEXMATCH -MONDO:0017411 neonatal inflammatory skin and bowel disease skos:exactMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal inflammatory skin and bowel disease LEXMATCH -MONDO:0017415 multiple pterygium syndrome skos:exactMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple pterygium syndrome LEXMATCH -MONDO:0017416 postpoliomyelitis syndrome skos:exactMatch Orphanet:2942 Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpoliomyelitis syndrome LEXMATCH -MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:exactMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal-hepatic-pancreatic dysplasia LEXMATCH -MONDO:0017418 chronic intestinal failure skos:exactMatch Orphanet:294422 Chronic intestinal failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intestinal failure LEXMATCH -MONDO:0017420 intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intercalary limb defects LEXMATCH -MONDO:0017427 congenital deformities of limbs skos:exactMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital deformities of limbs LEXMATCH -MONDO:0017428 congenital deformities of fingers skos:exactMatch Orphanet:294947 Congenital deformities of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital deformities of fingers LEXMATCH -MONDO:0017429 joint formation defects skos:exactMatch Orphanet:294949 Joint formation defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joint formation defects LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome LEXMATCH -MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome LEXMATCH -MONDO:0017436 lethal congenital contracture syndrome skos:exactMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal congenital contracture syndrome LEXMATCH -MONDO:0017437 amelia of upper limb skos:exactMatch Orphanet:294967 Amelia of upper limb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelia of upper limb LEXMATCH -MONDO:0017438 amelia of lower limb skos:exactMatch Orphanet:294969 Amelia of lower limb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelia of lower limb LEXMATCH -MONDO:0017439 tetra-amelia skos:exactMatch Orphanet:294971 Tetra-amelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetra-amelia LEXMATCH -MONDO:0017440 humeral agenesis/hypoplasia skos:exactMatch Orphanet:294973 Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeral agenesis/hypoplasia LEXMATCH -MONDO:0017441 congenital absence of upper arm and forearm with hand present skos:exactMatch Orphanet:294975 Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present LEXMATCH -MONDO:0017442 congenital absence of thigh and lower leg with foot present skos:exactMatch Orphanet:294977 Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present LEXMATCH -MONDO:0017443 congenital absence of both forearm and hand skos:exactMatch Orphanet:294979 Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand LEXMATCH -MONDO:0017444 congenital absence of both lower leg and foot skos:exactMatch Orphanet:294981 Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot LEXMATCH -MONDO:0017445 acheiria skos:exactMatch Orphanet:294983 Acheiria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acheiria LEXMATCH -MONDO:0017446 apodia skos:exactMatch Orphanet:294986 Apodia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apodia LEXMATCH -MONDO:0017453 fetal parvovirus syndrome skos:exactMatch Orphanet:295 Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal parvovirus syndrome LEXMATCH -MONDO:0017455 hyperphalangy skos:exactMatch Orphanet:295002 Hyperphalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphalangy LEXMATCH -MONDO:0017456 central polydactyly of fingers skos:exactMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesoaxial polydactyly LEXMATCH -MONDO:0017460 syndactyly type 6 skos:exactMatch Orphanet:295012 Syndactyly type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 6 LEXMATCH -MONDO:0017461 familial isolated clinodactyly of fingers skos:exactMatch Orphanet:295014 Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated clinodactyly of fingers LEXMATCH -MONDO:0017462 congenital pseudoarthrosis of the tibia skos:exactMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the tibia LEXMATCH -MONDO:0017463 congenital pseudoarthrosis of the femur skos:exactMatch Orphanet:295020 Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the femur LEXMATCH -MONDO:0017464 congenital pseudoarthrosis of the fibula skos:exactMatch Orphanet:295022 Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the fibula LEXMATCH -MONDO:0017465 congenital pseudoarthrosis of the radius skos:exactMatch Orphanet:295024 Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the radius LEXMATCH -MONDO:0017466 congenital pseudoarthrosis of the ulna skos:exactMatch Orphanet:295026 Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the ulna LEXMATCH -MONDO:0017467 tibio-fibular synostosis skos:exactMatch Orphanet:295028 Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibio-fibular synostosis LEXMATCH -MONDO:0017469 congenital elbow dislocation skos:exactMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated congenital elbow dislocation LEXMATCH -MONDO:0017470 congenital knee dislocation skos:exactMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital knee dislocation LEXMATCH -MONDO:0017471 congenital patella dislocation skos:exactMatch Orphanet:295036 Congenital patella dislocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital patella dislocation LEXMATCH -MONDO:0017474 macrodactyly of fingers skos:exactMatch Orphanet:295044 Macrodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers LEXMATCH -MONDO:0017475 macrodactyly of toes skos:exactMatch Orphanet:295047 Macrodactyly of toes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes LEXMATCH -MONDO:0017476 upper limb hypertrophy skos:exactMatch Orphanet:295049 Upper limb hypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb hypertrophy LEXMATCH -MONDO:0017477 lower limb hypertrophy skos:exactMatch Orphanet:295051 Lower limb hypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower limb hypertrophy LEXMATCH -MONDO:0017543 zygodactyly type 2 skos:exactMatch Orphanet:295189 Zygodactyly type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 2 LEXMATCH -MONDO:0017544 zygodactyly type 3 skos:exactMatch Orphanet:295191 Zygodactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 3 LEXMATCH -MONDO:0017545 zygodactyly type 4 skos:exactMatch Orphanet:295193 Zygodactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 4 LEXMATCH -MONDO:0017546 congenital vertical talus, unilateral skos:exactMatch Orphanet:295201 Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus, unilateral LEXMATCH -MONDO:0017547 congenital vertical talus, bilateral skos:exactMatch Orphanet:295203 Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus, bilateral LEXMATCH -MONDO:0017552 humero-ulnar synostosis, unilateral skos:exactMatch Orphanet:295213 Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis, unilateral LEXMATCH -MONDO:0017553 humero-ulnar synostosis, bilateral skos:exactMatch Orphanet:295215 Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis, bilateral LEXMATCH -MONDO:0017554 radio-ulnar synostosis, unilateral skos:exactMatch Orphanet:295217 Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis, unilateral LEXMATCH -MONDO:0017555 radio-ulnar synostosis, bilateral skos:exactMatch Orphanet:295219 Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis, bilateral LEXMATCH -MONDO:0017558 congenital elbow dislocation, unilateral skos:exactMatch Orphanet:295225 Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital elbow dislocation, unilateral LEXMATCH -MONDO:0017559 congenital elbow dislocation, bilateral skos:exactMatch Orphanet:295227 Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital elbow dislocation, bilateral LEXMATCH -MONDO:0017560 congenital genu recurvatum skos:exactMatch Orphanet:295229 Congenital genu recurvatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital genu recurvatum LEXMATCH -MONDO:0017561 congenital genu flexum skos:exactMatch Orphanet:295232 Congenital genu flexum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital genu flexum LEXMATCH -MONDO:0017564 macrodactyly of fingers, unilateral skos:exactMatch Orphanet:295239 Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers, unilateral LEXMATCH -MONDO:0017565 macrodactyly of fingers, bilateral skos:exactMatch Orphanet:295241 Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers, bilateral LEXMATCH -MONDO:0017566 macrodactyly of toes, unilateral skos:exactMatch Orphanet:295243 Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes, unilateral LEXMATCH -MONDO:0017567 macrodactyly of toes, bilateral skos:exactMatch Orphanet:295245 Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes, bilateral LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:exactMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachydactyly-scoliosis-carpal fusion syndrome LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:exactMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrodysplasia scoliosis LEXMATCH -MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:exactMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prata-liberal-goncalves syndrome LEXMATCH -MONDO:0017569 de Barsy syndrome skos:exactMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label de barsy syndrome LEXMATCH -MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency LEXMATCH -MONDO:0017571 Proteus-like syndrome skos:exactMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome LEXMATCH -MONDO:0017572 tick-borne encephalitis skos:exactMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne encephalitis LEXMATCH -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome skos:exactMatch Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx disorder of sex development-anorectal anomalies syndrome LEXMATCH -MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intestinal pseudoobstruction LEXMATCH -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:exactMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial neurogastrointestinal encephalomyopathy LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:exactMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx dsd LEXMATCH -MONDO:0017576 46,XX disorder of sex development skos:exactMatch Orphanet:2982 46,XX difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx disorder of sex development LEXMATCH -MONDO:0017577 spontaneous periodic hypothermia skos:exactMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous periodic hypothermia LEXMATCH -MONDO:0017578 disorder of thiamine metabolism and transport skos:exactMatch Orphanet:298644 Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of thiamine metabolism and transport LEXMATCH -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:exactMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter cerebrofrontofacial syndrome LEXMATCH -MONDO:0017580 11p15.4 microduplication syndrome skos:exactMatch Orphanet:300305 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 11p15.4 microduplication syndrome LEXMATCH -MONDO:0017582 pituitary adenocarcinoma skos:exactMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pituitary carcinoma LEXMATCH -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome skos:exactMatch Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirror polydactyly-vertebral segmentation-limbs defects syndrome LEXMATCH -MONDO:0017584 Sagliker syndrome skos:exactMatch Orphanet:300493 Sagliker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sagliker syndrome LEXMATCH -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome skos:exactMatch Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful orbital and systemic neurofibromas-marfanoid habitus syndrome LEXMATCH -MONDO:0017586 onychocytic matricoma skos:exactMatch Orphanet:300504 Onychocytic matricoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onychocytic matricoma LEXMATCH -MONDO:0017587 onychomatricoma skos:exactMatch Orphanet:300512 Onychomatricoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onychomatricoma LEXMATCH -MONDO:0017589 follicular cholangitis and pancreatitis skos:exactMatch Orphanet:300552 Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular cholangitis and pancreatitis LEXMATCH -MONDO:0017590 carcinoma of the ampulla of vater skos:exactMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of the ampulla of vater LEXMATCH -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome skos:exactMatch Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined pulmonary fibrosis-emphysema syndrome LEXMATCH -MONDO:0017592 staphylococcal toxemia skos:exactMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal toxemia LEXMATCH -MONDO:0017593 juvenile amyotrophic lateral sclerosis skos:exactMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile amyotrophic lateral sclerosis LEXMATCH -MONDO:0017594 indolent B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent b-cell non-hodgkin lymphoma LEXMATCH -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma skos:exactMatch Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive b-cell non-hodgkin lymphoma LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma of the central nervous system LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell/histiocyte rich large b cell lymphoma LEXMATCH -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:exactMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous anaplastic large cell lymphoma LEXMATCH -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma skos:exactMatch Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenic diffuse red pulp small b-cell lymphoma LEXMATCH -MONDO:0017600 hairy cell leukemia variant skos:exactMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hairy cell leukemia variant LEXMATCH -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation skos:exactMatch Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma with chronic inflammation LEXMATCH -MONDO:0017602 ALK-positive anaplastic large cell lymphoma skos:exactMatch Orphanet:300895 ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-positive anaplastic large cell lymphoma LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:exactMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-negative anaplastic large cell lymphoma LEXMATCH -MONDO:0017604 marginal zone lymphoma skos:exactMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marginal zone lymphoma LEXMATCH -MONDO:0017607 caudal regression sequence skos:exactMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caudal dysplasia LEXMATCH -MONDO:0017607 caudal regression sequence skos:exactMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence LEXMATCH -MONDO:0017609 renal tubular dysgenesis skos:exactMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis LEXMATCH -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch Orphanet:304 Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex LEXMATCH -MONDO:0017611 pituitary tumor skos:exactMatch Orphanet:304055 Pituitary tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary tumor LEXMATCH -MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch Orphanet:305 Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa LEXMATCH -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:exactMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome LEXMATCH -MONDO:0017615 benign familial infantile epilepsy skos:exactMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial infantile epilepsy LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:exactMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset immunodeficiency with anti-interferon-gamma autoantibodies LEXMATCH -MONDO:0017617 acquired adult-onset immunodeficiency skos:exactMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired adult-onset immunodeficiency LEXMATCH -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome LEXMATCH -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis skos:exactMatch Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym michellis-castrillo syndrome LEXMATCH -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome skos:exactMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hereditary facial paralysis-variable hearing loss syndrome LEXMATCH -MONDO:0017628 myospherulosis skos:exactMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myospherulosis LEXMATCH -MONDO:0017630 X-linked complicated spastic paraplegia type 1 skos:exactMatch Orphanet:306617 X-linked complicated spastic paraplegia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked complicated spastic paraplegia type 1 LEXMATCH -MONDO:0017634 non-infectious anterior uveitis skos:exactMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-infectious anterior uveitis LEXMATCH -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome skos:exactMatch Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiparkinsonism-hemiatrophy syndrome LEXMATCH -MONDO:0017638 manganese poisoning skos:exactMatch Orphanet:306682 Manganese poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label manganese poisoning LEXMATCH -MONDO:0017648 Sydenham chorea skos:exactMatch Orphanet:306731 Sydenham chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea LEXMATCH -MONDO:0017649 hemidystonia-hemiatrophy syndrome skos:exactMatch Orphanet:306741 Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemidystonia-hemiatrophy syndrome LEXMATCH -MONDO:0017658 hyperekplexia skos:exactMatch Orphanet:306773 Hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperekplexia LEXMATCH -MONDO:0017659 sporadic hyperekplexia skos:exactMatch Orphanet:306776 Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic hyperekplexia LEXMATCH -MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307141 Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse palmoplantar keratoderma LEXMATCH -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome skos:exactMatch Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-short stature-hypertelorism syndrome LEXMATCH -MONDO:0017672 focal palmoplantar keratoderma skos:exactMatch Orphanet:307837 Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar keratoderma LEXMATCH -MONDO:0017675 punctate palmoplantar keratoderma skos:exactMatch Orphanet:307967 Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma LEXMATCH -MONDO:0017677 focal acral hyperkeratosis skos:exactMatch Orphanet:308013 Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal acral hyperkeratosis LEXMATCH -MONDO:0017681 erythrokeratoderma variabilis progressiva skos:exactMatch Orphanet:308166 Erythrokeratoderma variabilis progressiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratoderma variabilis progressiva LEXMATCH -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome skos:exactMatch Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-polydactyly-uncombable hair syndrome LEXMATCH -MONDO:0017683 methylcobalamin deficiency type cblDv1 skos:exactMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cbldv1 LEXMATCH -MONDO:0017684 disorder of beta and omega amino acid metabolism skos:exactMatch Orphanet:308407 Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of beta and omega amino acid metabolism LEXMATCH -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 skos:exactMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-responsive methylmalonic acidemia, type cbldv2 LEXMATCH -MONDO:0017687 disorder of neutral amino acid transport skos:exactMatch Orphanet:308451 Disorder of neutral amino acid transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of neutral amino acid transport LEXMATCH -MONDO:0017688 disorder of glycolysis skos:exactMatch Orphanet:308459 Disorder of glycolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glycolysis LEXMATCH -MONDO:0017689 disorder of fructose metabolism skos:exactMatch Orphanet:308463 Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fructose metabolism LEXMATCH -MONDO:0017690 disorder of galactose metabolism skos:exactMatch Orphanet:308467 Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of galactose metabolism LEXMATCH -MONDO:0017691 erythrocyte galactose epimerase deficiency skos:exactMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrocyte galactose epimerase deficiency LEXMATCH -MONDO:0017692 generalized galactose epimerase deficiency skos:exactMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized galactose epimerase deficiency LEXMATCH -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to acid maltase deficiency, infantile onset LEXMATCH -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form LEXMATCH -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form LEXMATCH -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form LEXMATCH -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form skos:exactMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form LEXMATCH -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form LEXMATCH -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:exactMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form LEXMATCH -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form skos:exactMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form LEXMATCH -MONDO:0017703 disorder of glyoxylate metabolism skos:exactMatch Orphanet:308998 Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glyoxylate metabolism LEXMATCH -MONDO:0017704 familial partial epilepsy skos:exactMatch Orphanet:309 Familial partial epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial epilepsy LEXMATCH -MONDO:0017705 congenital pulmonary venous return anomaly skos:exactMatch Orphanet:3090 Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary venous return anomaly LEXMATCH -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption skos:exactMatch Orphanet:309001 Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate absorption and transport LEXMATCH -MONDO:0017708 mevalonate kinase deficiency skos:exactMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency LEXMATCH -MONDO:0017711 pancreatic colipase deficiency skos:exactMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic colipase deficiency LEXMATCH -MONDO:0017712 combined pancreatic lipase-colipase deficiency skos:exactMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined pancreatic lipase-colipase deficiency LEXMATCH -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis skos:exactMatch Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fatty acid oxidation and ketogenesis LEXMATCH -MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch Orphanet:309130 Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of carnitine cycle and carnitine transport LEXMATCH -MONDO:0017719 gangliosidosis skos:exactMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gangliosidosis LEXMATCH -MONDO:0017720 GM2 gangliosidosis skos:exactMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm2 gangliosidosis LEXMATCH -MONDO:0017721 Sandhoff disease, infantile form skos:exactMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, infantile form LEXMATCH -MONDO:0017722 Sandhoff disease, juvenile form skos:exactMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, juvenile form LEXMATCH -MONDO:0017723 Sandhoff disease, adult form skos:exactMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, adult form LEXMATCH -MONDO:0017724 Tay-Sachs disease, b variant, infantile form skos:exactMatch Orphanet:309178 Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, infantile form LEXMATCH -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form skos:exactMatch Orphanet:309185 Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, juvenile form LEXMATCH -MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:exactMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, adult form LEXMATCH -MONDO:0017727 fixed subaortic stenosis skos:exactMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fixed subaortic stenosis LEXMATCH -MONDO:0017728 Tay-Sachs disease, B1 variant skos:exactMatch Orphanet:309239 Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b1 variant LEXMATCH -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch Orphanet:309256 Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, late infantile form LEXMATCH -MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch Orphanet:309271 Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, adult form LEXMATCH -MONDO:0017731 glycoproteinosis skos:exactMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycoproteinosis LEXMATCH -MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis, infantile form LEXMATCH -MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis, adult form LEXMATCH -MONDO:0017734 sialidosis skos:exactMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis LEXMATCH -MONDO:0017735 congenital aortic valve stenosis skos:exactMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aortic valve stenosis LEXMATCH -MONDO:0017736 disorder of sialic acid metabolism skos:exactMatch Orphanet:309319 Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of sialic acid metabolism LEXMATCH -MONDO:0017737 intermediate severe Salla disease skos:exactMatch Orphanet:309331 Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate severe salla disease LEXMATCH -MONDO:0017738 lysosomal glycogen storage disease skos:exactMatch Orphanet:309337 Lysosomal glycogen storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal glycogen storage disease LEXMATCH -MONDO:0017739 disorder of lysosomal-related organelles skos:exactMatch Orphanet:309340 Disorder of lysosomal-related organelles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of lysosomal-related organelles LEXMATCH -MONDO:0017740 disorder of protein N-glycosylation skos:exactMatch Orphanet:309347 Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of protein n-glycosylation LEXMATCH -MONDO:0017741 disorder of protein O-glycosylation skos:exactMatch Orphanet:309447 Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of protein o-glycosylation LEXMATCH -MONDO:0017746 atypical Rett syndrome skos:exactMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical rett syndrome LEXMATCH -MONDO:0017747 disorder of fucoglycosan synthesis skos:exactMatch Orphanet:309505 Disorder of fucoglycosan synthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fucoglycosan synthesis LEXMATCH -MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:exactMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of glycosphingolipid and gpi-anchored proteins glycosylation LEXMATCH -MONDO:0017749 disorder of multiple glycosylation skos:exactMatch Orphanet:309526 Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of multiple glycosylation LEXMATCH -MONDO:0017750 defect in conserved oligomeric Golgi complex skos:exactMatch Orphanet:309568 Defect in conserved oligomeric Golgi complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label defect in conserved oligomeric golgi complex LEXMATCH -MONDO:0017752 defect in V-ATPase skos:exactMatch Orphanet:309778 Defect in V-ATPase semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label defect in v-atpase LEXMATCH -MONDO:0017755 inborn disorder of bilirubin metabolism skos:exactMatch Orphanet:309816 Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of bilirubin metabolism and excretion LEXMATCH -MONDO:0017757 disorder of metabolite absorption and transport skos:exactMatch Orphanet:309824 Disorder of metabolite absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of metabolite absorption and transport LEXMATCH -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport skos:exactMatch Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of vitamin and non-protein cofactor absorption and transport LEXMATCH -MONDO:0017759 disorder of catecholamine synthesis skos:exactMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of catecholamine synthesis LEXMATCH -MONDO:0017761 disorder of mineral absorption and transport skos:exactMatch Orphanet:309836 Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of mineral absorption and transport LEXMATCH -MONDO:0017762 disorder of copper metabolism skos:exactMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of copper metabolism LEXMATCH -MONDO:0017763 disorder of iron metabolism and transport skos:exactMatch Orphanet:309842 Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of iron metabolism and transport LEXMATCH -MONDO:0017765 disorder of magnesium transport skos:exactMatch Orphanet:309848 Disorder of magnesium transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of magnesium transport LEXMATCH -MONDO:0017766 disorder of manganese transport skos:exactMatch Orphanet:309851 Disorder of manganese transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of manganese transport LEXMATCH -MONDO:0017767 rheumatic fever skos:exactMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic fever LEXMATCH -MONDO:0017768 reflex epilepsy skos:exactMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reflex epilepsy LEXMATCH -MONDO:0017769 acquired immunodeficiency skos:exactMatch Orphanet:310050 Acquired immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired immunodeficiency LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome LEXMATCH -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rokitansky syndrome LEXMATCH -MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoalphalipoproteinemia LEXMATCH -MONDO:0017774 hypobetalipoproteinemia skos:exactMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypobetalipoproteinemia LEXMATCH -MONDO:0017775 melioidosis skos:exactMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melioidosis LEXMATCH -MONDO:0017776 nocardiosis skos:exactMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis LEXMATCH -MONDO:0017778 lamellar ichthyosis skos:exactMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis LEXMATCH -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency LEXMATCH -MONDO:0017780 20p13 microdeletion syndrome skos:exactMatch Orphanet:313781 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20p13 microdeletion syndrome LEXMATCH -MONDO:0017781 12p12.1 microdeletion syndrome skos:exactMatch Orphanet:313884 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12p12.1 microdeletion syndrome LEXMATCH -MONDO:0017782 developmental and speech delay due to SOX5 deficiency skos:exactMatch Orphanet:313892 Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and speech delay due to sox5 deficiency LEXMATCH -MONDO:0017783 congenital pancreatic cyst skos:exactMatch Orphanet:313906 Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst LEXMATCH -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma skos:exactMatch Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated gastric carcinoma LEXMATCH -MONDO:0017785 PENS syndrome skos:exactMatch Orphanet:313936 PENS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pens syndrome LEXMATCH -MONDO:0017786 2q23.1 microduplication syndrome skos:exactMatch Orphanet:313947 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q23.1 microduplication syndrome LEXMATCH -MONDO:0017787 erythroderma desquamativum skos:exactMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythroderma desquamativum LEXMATCH -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome skos:exactMatch Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dinno syndrome LEXMATCH -MONDO:0017789 idiopathic linear interstitial keratitis skos:exactMatch Orphanet:314017 Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic linear interstitial keratitis LEXMATCH -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:exactMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach LEXMATCH -MONDO:0017791 high bone mass osteogenesis imperfecta skos:exactMatch Orphanet:314029 High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high bone mass osteogenesis imperfecta LEXMATCH -MONDO:0017792 7p22.1 microduplication syndrome skos:exactMatch Orphanet:314034 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7p22.1 microduplication syndrome LEXMATCH -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome skos:exactMatch Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfanoid habitus-inguinal hernia-advanced bone age syndrome LEXMATCH -MONDO:0017794 Xq12-q13.3 duplication syndrome skos:exactMatch Orphanet:314389 Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq12-q13.3 duplication syndrome LEXMATCH -MONDO:0017795 ameloblastoma skos:exactMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ameloblastoma LEXMATCH -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome skos:exactMatch Orphanet:314432 Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spigelian hernia-cryptorchidism syndrome LEXMATCH -MONDO:0017799 Meigs syndrome skos:exactMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meigs syndrome LEXMATCH -MONDO:0017800 pseudo-Meigs syndrome skos:exactMatch Orphanet:314459 Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudo-meigs syndrome LEXMATCH -MONDO:0017801 atypical Meigs syndrome skos:exactMatch Orphanet:314466 Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical meigs syndrome LEXMATCH -MONDO:0017802 ovarian fibrothecoma skos:exactMatch Orphanet:314478 Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian fibrothecoma LEXMATCH -MONDO:0017803 primary progressive apraxia of speech skos:exactMatch Orphanet:314566 Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive apraxia of speech LEXMATCH -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome skos:exactMatch Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome LEXMATCH -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome skos:exactMatch Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome LEXMATCH -MONDO:0017806 15q overgrowth syndrome skos:exactMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q overgrowth syndrome LEXMATCH -MONDO:0017807 growing teratoma syndrome skos:exactMatch Orphanet:314613 Growing teratoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growing teratoma syndrome LEXMATCH -MONDO:0017808 duplication of the pituitary gland skos:exactMatch Orphanet:314621 Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duplication of the pituitary gland LEXMATCH -MONDO:0017809 parkinsonism due to ATP13A2 deficiency skos:exactMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln12 disease LEXMATCH -MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch Orphanet:314652 Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant abeta2m amyloidosis LEXMATCH -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion skos:exactMatch Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion LEXMATCH -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia skos:exactMatch Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental progressive overgrowth syndrome with fibroadipose hyperplasia LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:exactMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym van maldergem syndrome LEXMATCH -MONDO:0017813 van Maldergem syndrome skos:exactMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym van maldergem syndrome LEXMATCH -MONDO:0017814 primary bone lymphoma skos:exactMatch Orphanet:314684 Primary bone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone lymphoma LEXMATCH -MONDO:0017815 acquired porencephaly skos:exactMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired porencephaly LEXMATCH -MONDO:0017816 primary systemic amyloidosis skos:exactMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary systemic amyloidosis LEXMATCH -MONDO:0017817 primary localized amyloidosis skos:exactMatch Orphanet:314709 Primary localized amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary localized amyloidosis LEXMATCH -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency skos:exactMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal arteriopathy syndrome due to fibulin-4 deficiency LEXMATCH -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency skos:exactMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dentin dysplasia due to smoc2 deficiency LEXMATCH -MONDO:0017822 mixed functioning pituitary adenoma skos:exactMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed functioning pituitary adenoma LEXMATCH -MONDO:0017823 somatomammotropinoma skos:exactMatch Orphanet:314769 Somatomammotropinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatomammotropinoma LEXMATCH -MONDO:0017824 familial isolated pituitary adenoma skos:exactMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated pituitary adenoma LEXMATCH -MONDO:0017825 silent pituitary adenoma skos:exactMatch Orphanet:314786 Silent pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silent pituitary adenoma LEXMATCH -MONDO:0017826 null pituitary adenoma skos:exactMatch Orphanet:314790 Null pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label null pituitary adenoma LEXMATCH -MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant peripheral nerve sheath tumor LEXMATCH -MONDO:0017829 autosomal dominant proximal renal tubular acidosis skos:exactMatch Orphanet:314889 Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant proximal renal tubular acidosis LEXMATCH -MONDO:0017830 severe Canavan disease skos:exactMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe canavan disease LEXMATCH -MONDO:0017831 mild Canavan disease skos:exactMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild canavan disease LEXMATCH -MONDO:0017833 primary hypereosinophilic syndrome skos:exactMatch Orphanet:314950 Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypereosinophilic syndrome LEXMATCH -MONDO:0017834 secondary hypereosinophilic syndrome skos:exactMatch Orphanet:314962 Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypereosinophilic syndrome LEXMATCH -MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:exactMatch Orphanet:314970 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic hypereosinophilic syndrome LEXMATCH -MONDO:0017836 erythrokeratoderma en cocardes skos:exactMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym "degos genodermatosis ""en cocardes""" LEXMATCH -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome skos:exactMatch Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis-ichthyosis-factor viii deficiency syndrome LEXMATCH -MONDO:0017838 sclerosteosis skos:exactMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosteosis LEXMATCH -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form skos:exactMatch Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form LEXMATCH -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form skos:exactMatch Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form LEXMATCH -MONDO:0017842 Senior-Loken syndrome skos:exactMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome LEXMATCH -MONDO:0017843 congenital pulmonary sequestration skos:exactMatch Orphanet:3161 Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary sequestration LEXMATCH -MONDO:0017844 Sezary syndrome skos:exactMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sézary lymphoma LEXMATCH -MONDO:0017844 Sezary syndrome skos:exactMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sézary syndrome LEXMATCH -MONDO:0017845 spastic ataxia skos:exactMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia LEXMATCH -MONDO:0017846 autosomal dominant spastic ataxia skos:exactMatch Orphanet:316235 Autosomal dominant spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant spastic ataxia LEXMATCH -MONDO:0017847 autosomal recessive spastic ataxia skos:exactMatch Orphanet:316240 Autosomal recessive spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic ataxia LEXMATCH -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:exactMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siegler-brewer-carey syndrome LEXMATCH -MONDO:0017850 sirenomelia skos:exactMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sirenomelia LEXMATCH -MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia variabilis LEXMATCH -MONDO:0017852 infantile spasms-broad thumbs syndrome skos:exactMatch Orphanet:3173 Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile spasms-broad thumbs syndrome LEXMATCH -MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersensitivity pneumonitis LEXMATCH -MONDO:0017855 T-B- severe combined immunodeficiency skos:exactMatch Orphanet:317419 T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b- severe combined immunodeficiency LEXMATCH -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome skos:exactMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spasticity-intellectual disability-epilepsy syndrome LEXMATCH -MONDO:0017857 spina bifida-hypospadias syndrome skos:exactMatch Orphanet:3176 Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida-hypospadias syndrome LEXMATCH -MONDO:0017858 acute erythroid leukemia skos:exactMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia LEXMATCH -MONDO:0017859 colchicine poisoning skos:exactMatch Orphanet:31824 Colchicine poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colchicine poisoning LEXMATCH -MONDO:0017860 methanol poisoning skos:exactMatch Orphanet:31825 Methanol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methanol poisoning LEXMATCH -MONDO:0017861 ethylene glycol poisoning skos:exactMatch Orphanet:31826 Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ethylene glycol poisoning LEXMATCH -MONDO:0017862 paraquat poisoning skos:exactMatch Orphanet:31827 Paraquat poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraquat poisoning LEXMATCH -MONDO:0017863 digitalis poisoning skos:exactMatch Orphanet:31828 Digitalis poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitalis poisoning LEXMATCH -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch Orphanet:3188 Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary veins atresia or stenosis LEXMATCH -MONDO:0017866 subpulmonary stenosis skos:exactMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subpulmonary stenosis LEXMATCH -MONDO:0017867 distal 17p13.1 microdeletion syndrome skos:exactMatch Orphanet:319171 Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 17p13.1 microdeletion syndrome LEXMATCH -MONDO:0017868 diencephalic-mesencephalic junction dysplasia skos:exactMatch Orphanet:319192 Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diencephalic-mesencephalic junction dysplasia LEXMATCH -MONDO:0017869 chondroectodermal dysplasia with night blindness skos:exactMatch Orphanet:319195 Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondroectodermal dysplasia with night blindness LEXMATCH -MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch Orphanet:3192 Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular pulmonary stenosis LEXMATCH -MONDO:0017871 bilateral massive adrenal hemorrhage skos:exactMatch Orphanet:319205 Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral massive adrenal hemorrhage LEXMATCH -MONDO:0017872 Lujo hemorrhagic fever skos:exactMatch Orphanet:319213 Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lujo hemorrhagic fever LEXMATCH -MONDO:0017874 Argentine hemorrhagic fever skos:exactMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argentine hemorrhagic fever LEXMATCH -MONDO:0017875 Bolivian hemorrhagic fever skos:exactMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bolivian hemorrhagic fever LEXMATCH -MONDO:0017876 Venezuelan hemorrhagic fever skos:exactMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venezuelan hemorrhagic fever LEXMATCH -MONDO:0017877 Brazilian hemorrhagic fever skos:exactMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brazilian hemorrhagic fever LEXMATCH -MONDO:0017878 Chapare hemorrhagic fever skos:exactMatch Orphanet:319244 Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chapare hemorrhagic fever LEXMATCH -MONDO:0017879 hantavirus pulmonary syndrome skos:exactMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hantavirus pulmonary syndrome LEXMATCH -MONDO:0017880 Rift valley fever skos:exactMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever LEXMATCH -MONDO:0017881 Kyasanur forest disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease LEXMATCH -MONDO:0017882 Omsk hemorrhagic fever skos:exactMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omsk hemorrhagic fever LEXMATCH -MONDO:0017884 papillary renal cell carcinoma skos:exactMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary renal cell carcinoma LEXMATCH -MONDO:0017885 chromophobe renal cell carcinoma skos:exactMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromophobe renal cell carcinoma LEXMATCH -MONDO:0017886 MIT family translocation renal cell carcinoma skos:exactMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mit family translocation renal cell carcinoma LEXMATCH -MONDO:0017890 tubulocystic renal cell carcinoma skos:exactMatch Orphanet:319325 Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulocystic renal cell carcinoma LEXMATCH -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita skos:exactMatch Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive myogenic arthrogryposis multiplex congenita LEXMATCH -MONDO:0017893 inherited acute myeloid leukemia skos:exactMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited acute myeloid leukemia LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with cebpa somatic mutations LEXMATCH -MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:exactMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial papillary or follicular thyroid carcinoma LEXMATCH -MONDO:0017896 familial nonmedullary thyroid carcinoma skos:exactMatch Orphanet:319494 Familial nonmedullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial nonmedullary thyroid carcinoma LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency LEXMATCH -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency skos:exactMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor 2 deficiency LEXMATCH -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:exactMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency LEXMATCH -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency LEXMATCH -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency skos:exactMatch Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency LEXMATCH -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:exactMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steroid dehydrogenase deficiency-dental anomalies syndrome LEXMATCH -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases skos:exactMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases LEXMATCH -MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis cutis dyschromia LEXMATCH -MONDO:0017907 primary lymphoma of the conjunctiva skos:exactMatch Orphanet:319667 Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary lymphoma of the conjunctiva LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyroglutamicaciduria LEXMATCH -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency LEXMATCH -MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dehydrated hereditary stomatocytosis LEXMATCH -MONDO:0017913 pure or complex hereditary spastic paraplegia skos:exactMatch Orphanet:320335 Pure or complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure or complex hereditary spastic paraplegia LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:exactMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited spg LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:exactMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mt-atp6-related mitochondrial spastic paraplegia LEXMATCH -MONDO:0017917 maternally-inherited spastic paraplegia skos:exactMatch Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maternally-inherited spastic paraplegia LEXMATCH -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:exactMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exstrophy-epispadias complex LEXMATCH -MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex LEXMATCH -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:exactMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome LEXMATCH -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome skos:exactMatch Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hearing loss-familial salivary gland insensitivity to aldosterone syndrome LEXMATCH -MONDO:0017923 multiple synostoses syndrome skos:exactMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome LEXMATCH -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome skos:exactMatch Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system calcification-deafness-tubular acidosis-anemia syndrome LEXMATCH -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis skos:exactMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell immunodeficiency with epidermodysplasia verruciformis LEXMATCH -MONDO:0017926 multiple paragangliomas associated with polycythemia skos:exactMatch Orphanet:324299 Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple paragangliomas associated with polycythemia LEXMATCH -MONDO:0017928 9p13 microdeletion syndrome skos:exactMatch Orphanet:324313 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9p13 microdeletion syndrome LEXMATCH -MONDO:0017929 congenital achiasma skos:exactMatch Orphanet:324353 Congenital achiasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital achiasma LEXMATCH -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations skos:exactMatch Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed sclerosing bone dystrophy with extra-skeletal manifestations LEXMATCH -MONDO:0017931 hereditary inclusion body myopathy type 4 skos:exactMatch Orphanet:324381 Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary inclusion body myopathy type 4 LEXMATCH -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome skos:exactMatch Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular hypertrophy-hepatomegaly-polyhydramnios syndrome LEXMATCH -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome skos:exactMatch Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome LEXMATCH -MONDO:0017935 hyperinsulinism due to HNF1A deficiency skos:exactMatch Orphanet:324575 Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to hnf1a deficiency LEXMATCH -MONDO:0017936 benign Samaritan congenital myopathy skos:exactMatch Orphanet:324581 Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign samaritan congenital myopathy LEXMATCH -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain skos:exactMatch Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain LEXMATCH -MONDO:0017939 minicore myopathy skos:exactMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic multiminicore myopathy LEXMATCH -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation skos:exactMatch Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation LEXMATCH -MONDO:0017941 chikungunya skos:exactMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chikungunya LEXMATCH -MONDO:0017942 Hendra virus infection skos:exactMatch Orphanet:324632 Hendra virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hendra virus infection LEXMATCH -MONDO:0017943 autoerythrocyte sensitization syndrome skos:exactMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoerythrocyte sensitization syndrome LEXMATCH -MONDO:0017944 invasive non-typhoidal salmonellosis skos:exactMatch Orphanet:324648 Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label invasive non-typhoidal salmonellosis LEXMATCH -MONDO:0017945 ABetaL34V amyloidosis skos:exactMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetal34v amyloidosis LEXMATCH -MONDO:0017946 ABeta amyloidosis, Iowa type skos:exactMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, iowa type LEXMATCH -MONDO:0017947 ABeta amyloidosis, Italian type skos:exactMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, italian type LEXMATCH -MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetaa21g amyloidosis LEXMATCH -MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, arctic type LEXMATCH -MONDO:0017950 microcephalic primordial dwarfism skos:exactMatch Orphanet:324761 Microcephalic primordial dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism LEXMATCH -MONDO:0017951 trichorhinophalangeal syndrome skos:exactMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichorhinophalangeal syndrome LEXMATCH -MONDO:0017953 hereditary periodic fever syndrome skos:exactMatch Orphanet:324924 Hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary periodic fever syndrome LEXMATCH -MONDO:0017958 magic syndrome skos:exactMatch Orphanet:324972 MAGIC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magic syndrome LEXMATCH -MONDO:0017967 testicular agenesis skos:exactMatch Orphanet:325124 Testicular agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label testicular agenesis LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:exactMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy ovotesticular dsd LEXMATCH -MONDO:0017968 46,XY ovotesticular disorder of sex development skos:exactMatch Orphanet:325345 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy ovotesticular disorder of sex development LEXMATCH -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital lipoid adrenal hyperplasia due to star deficency LEXMATCH -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency skos:exactMatch Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-classic congenital lipoid adrenal hyperplasia due to star deficency LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:exactMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sex chromosome dsd LEXMATCH -MONDO:0017975 sex chromosome disorder of sex development skos:exactMatch Orphanet:325546 Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sex chromosome disorder of sex development LEXMATCH -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:exactMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syngnathia-multiple anomalies syndrome LEXMATCH -MONDO:0017980 syngnathia multiple anomalies skos:exactMatch Orphanet:3262 Dobrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dobrow syndrome LEXMATCH -MONDO:0017981 syngnathia-cleft palate syndrome skos:exactMatch Orphanet:3263 Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syngnathia-cleft palate syndrome LEXMATCH -MONDO:0017983 humero-radio-ulnar synostosis skos:exactMatch Orphanet:3266 Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-radio-ulnar synostosis LEXMATCH -MONDO:0017985 congenital radioulnar synostosis skos:exactMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital radioulnar synostosis LEXMATCH -MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch Orphanet:3276 Disorder of plasmalogens biosynthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of plasmalogens biosynthesis LEXMATCH -MONDO:0017987 syringomyelia skos:exactMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syringomyelia LEXMATCH -MONDO:0017988 multifocal atrial tachycardia skos:exactMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal atrial tachycardia LEXMATCH -MONDO:0017989 His bundle tachycardia skos:exactMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label his bundle tachycardia LEXMATCH -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catecholaminergic polymorphic ventricular tachycardia LEXMATCH -MONDO:0017991 Takayasu arteritis skos:exactMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label takayasu arteritis LEXMATCH -MONDO:0017991 Takayasu arteritis skos:exactMatch Orphanet:99079 Cervical aortic arch semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical aortic arch LEXMATCH -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis skos:exactMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis LEXMATCH -MONDO:0017993 cerebral sinovenous thrombosis skos:exactMatch Orphanet:329217 Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral sinovenous thrombosis LEXMATCH -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency skos:exactMatch Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency LEXMATCH -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome skos:exactMatch Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telecanthus-hypertelorism-strabismus-pes cavus syndrome LEXMATCH -MONDO:0017998 PLA2G6-associated neurodegeneration skos:exactMatch Orphanet:329303 PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pla2g6-associated neurodegeneration LEXMATCH -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatty acid hydroxylase-associated neurodegeneration LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:exactMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial thrombocytosis with transverse limb defect LEXMATCH -MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:exactMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombocytosis with transverse limb defect LEXMATCH -MONDO:0018001 inverse Klippel-Trenaunay syndrome skos:exactMatch Orphanet:329324 Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous hemangioma with muscle or bone atrophy LEXMATCH -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy skos:exactMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy LEXMATCH -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome skos:exactMatch Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia without down syndrome LEXMATCH -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome skos:exactMatch Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-paget disease of bone syndrome LEXMATCH -MONDO:0018006 adult-onset distal myopathy due to VCP mutation skos:exactMatch Orphanet:329478 Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset distal myopathy due to vcp mutation LEXMATCH -MONDO:0018007 mosaic genome-wide paternal uniparental disomy skos:exactMatch Orphanet:329813 Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic genome-wide paternal uniparental disomy LEXMATCH -MONDO:0018008 idiopathic giant cell myocarditis skos:exactMatch Orphanet:329874 Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic giant cell myocarditis LEXMATCH -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy skos:exactMatch Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hypoproteinemic hypertrophic gastropathy LEXMATCH -MONDO:0018010 juvenile idiopathic inflammatory myopathy skos:exactMatch Orphanet:329888 Juvenile idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic inflammatory myopathy LEXMATCH -MONDO:0018011 juvenile overlap myositis skos:exactMatch Orphanet:329894 Juvenile overlap myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile overlap myositis LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-ig-mediated membranoproliferative glomerulonephritis LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-ig-mediated mpgn LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-immunoglobulin-mediated mpgn LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label c3 glomerulopathy LEXMATCH -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-immunoglobulin-mediated membranoproliferative glomerulonephritis LEXMATCH -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency skos:exactMatch Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal multiple acyl-coa dehydrogenase deficiency LEXMATCH -MONDO:0018015 intermittent hydrarthrosis skos:exactMatch Orphanet:329967 Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis LEXMATCH -MONDO:0018016 classic neuroendocrine tumor of appendix skos:exactMatch Orphanet:329977 Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic neuroendocrine tumor of appendix LEXMATCH -MONDO:0018017 goblet cell carcinoma skos:exactMatch Orphanet:329984 Goblet cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goblet cell carcinoma LEXMATCH -MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch Orphanet:330001 Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wild type attr amyloidosis LEXMATCH -MONDO:0018019 lead poisoning skos:exactMatch Orphanet:330015 Lead poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lead poisoning LEXMATCH -MONDO:0018020 mercury poisoning skos:exactMatch Orphanet:330021 Mercury poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mercury poisoning LEXMATCH -MONDO:0018021 hypotrichosis-deafness syndrome skos:exactMatch Orphanet:330029 Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-deafness syndrome LEXMATCH -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome skos:exactMatch Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin lepore-beta-thalassemia syndrome LEXMATCH -MONDO:0018023 hemoglobin M disease skos:exactMatch Orphanet:330041 Hemoglobin M disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin m disease LEXMATCH -MONDO:0018024 hydroa vacciniforme skos:exactMatch Orphanet:330058 Hydroa vacciniforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydroa vacciniforme LEXMATCH -MONDO:0018025 chronic actinic dermatitis skos:exactMatch Orphanet:330064 Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic actinic dermatitis LEXMATCH -MONDO:0018026 tetraploidy syndrome skos:exactMatch Orphanet:3305 Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:exactMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duplication/inversion 15q11 LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:exactMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-distal tetrasomy 15q LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:exactMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric tetrasomy 15q LEXMATCH -MONDO:0018027 duplication/inversion 15q11 skos:exactMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym duplication/inversion 15q11 LEXMATCH -MONDO:0018028 tetrasomy 5p skos:exactMatch Orphanet:3309 Tetrasomy 5p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 5p LEXMATCH -MONDO:0018029 congenital factor XIII deficiency skos:exactMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xiii deficiency LEXMATCH -MONDO:0018030 tetrasomy 9p skos:exactMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 9p LEXMATCH -MONDO:0018031 granulomatous slack skin disease skos:exactMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous slack skin LEXMATCH -MONDO:0018034 thalidomide embryopathy skos:exactMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thalidomide embryopathy LEXMATCH -MONDO:0018037 hyper-IgE syndrome skos:exactMatch Orphanet:331223 Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-ige syndrome LEXMATCH -MONDO:0018039 selective IgM deficiency skos:exactMatch Orphanet:331235 Selective IgM deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective igm deficiency LEXMATCH -MONDO:0018043 Thomas syndrome skos:exactMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thomas syndrome LEXMATCH -MONDO:0018044 idiopathic hypersomnia skos:exactMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypersomnia LEXMATCH -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hoyeraal-hreidarsson syndrome LEXMATCH -MONDO:0018047 familial thrombomodulin anomalies skos:exactMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thrombomodulin anomalies LEXMATCH -MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heparin-induced thrombocytopenia LEXMATCH -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:exactMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial aplasia-ectrodactyly syndrome LEXMATCH -MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:exactMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jessner lymphocytic infiltration of the skin LEXMATCH -MONDO:0018053 trichothiodystrophy skos:exactMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy LEXMATCH -MONDO:0018054 familial atrial fibrillation skos:exactMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atrial fibrillation LEXMATCH -MONDO:0018055 pediatric hepatocellular carcinoma skos:exactMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric hepatocellular carcinoma LEXMATCH -MONDO:0018056 bullous lichen planus skos:exactMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus LEXMATCH -MONDO:0018058 tracheal agenesis skos:exactMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal agenesis LEXMATCH -MONDO:0018059 meningococcal meningitis skos:exactMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis LEXMATCH -MONDO:0018060 congenital fibrinogen deficiency skos:exactMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fibrinogen deficiency LEXMATCH -MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:exactMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodermodysplasia-dental alterations syndrome LEXMATCH -MONDO:0018063 nodular non-suppurative panniculitis skos:exactMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular non-suppurative panniculitis LEXMATCH -MONDO:0018064 trigonocephaly-broad thumbs syndrome skos:exactMatch Orphanet:3365 Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-broad thumbs syndrome LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:exactMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-syndromic metopic craniosynostosis LEXMATCH -MONDO:0018065 isolated trigonocephaly skos:exactMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated trigonocephaly LEXMATCH -MONDO:0018066 trisomy X skos:exactMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x LEXMATCH -MONDO:0018067 triploidy skos:exactMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy LEXMATCH -MONDO:0018068 trisomy 13 skos:exactMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 13 LEXMATCH -MONDO:0018069 distal trisomy 17q skos:exactMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 17q LEXMATCH -MONDO:0018069 distal trisomy 17q skos:exactMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17qter LEXMATCH -MONDO:0018069 distal trisomy 17q skos:exactMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 17q LEXMATCH -MONDO:0018069 distal trisomy 17q skos:exactMatch Orphanet:3379 Distal duplication 17q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 17q LEXMATCH -MONDO:0018071 trisomy 18 skos:exactMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 18 LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:exactMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common aorticopulmonary trunk LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:exactMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common arterial trunk LEXMATCH -MONDO:0018072 persistent truncus arteriosus skos:exactMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label truncus arteriosus LEXMATCH -MONDO:0018075 neural tube defect skos:exactMatch Orphanet:3388 Neural tube defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neural tube defect LEXMATCH -MONDO:0018076 tuberculosis skos:exactMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis LEXMATCH -MONDO:0018077 tularemia skos:exactMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tularemia LEXMATCH -MONDO:0018078 soft tissue sarcoma skos:exactMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label soft tissue sarcoma LEXMATCH -MONDO:0018079 thymic epithelial neoplasm skos:exactMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic epithelial neoplasm LEXMATCH -MONDO:0018081 hemorrhagic fever-renal syndrome skos:exactMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemorrhagic fever-renal syndrome LEXMATCH -MONDO:0018082 aorto-ventricular tunnel skos:exactMatch Orphanet:3400 Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-ventricular tunnel LEXMATCH -MONDO:0018083 transient tyrosinemia of the newborn skos:exactMatch Orphanet:3402 Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tyrosinemia of the newborn LEXMATCH -MONDO:0018084 Uhl anomaly skos:exactMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uhl anomaly LEXMATCH -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:exactMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label umbilical cord ulceration-intestinal atresia syndrome LEXMATCH -MONDO:0018086 ulerythema ophryogenesis skos:exactMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulerythema ophryogenesis LEXMATCH -MONDO:0018087 viral hemorrhagic fever skos:exactMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hemorrhagic fever LEXMATCH -MONDO:0018088 familial Mediterranean fever skos:exactMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever LEXMATCH -MONDO:0018089 double outlet right ventricle skos:exactMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle LEXMATCH -MONDO:0018090 double outlet left ventricle skos:exactMatch Orphanet:3427 Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle LEXMATCH -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:exactMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-brachydactyly-kyphoscoliosis syndrome LEXMATCH -MONDO:0018092 Vogt-Koyanagi-Harada disease skos:exactMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vogt-koyanagi-harada disease LEXMATCH -MONDO:0018093 arbovirus fever skos:exactMatch Orphanet:344 Arbovirus fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arbovirus fever LEXMATCH -MONDO:0018094 Waardenburg syndrome skos:exactMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome LEXMATCH -MONDO:0018095 Weaver-Williams syndrome skos:exactMatch Orphanet:3448 Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weaver-williams syndrome LEXMATCH -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weill-marchesani syndrome LEXMATCH -MONDO:0018097 West syndrome skos:exactMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym west syndrome LEXMATCH -MONDO:0018102 corneal dystrophy skos:exactMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal dystrophy LEXMATCH -MONDO:0018105 Wolfram syndrome skos:exactMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolfram syndrome LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary xanthinuria LEXMATCH -MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency LEXMATCH -MONDO:0018109 fulminant viral hepatitis skos:exactMatch Orphanet:35063 Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fulminant viral hepatitis LEXMATCH -MONDO:0018112 isolated scaphocephaly skos:exactMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated scaphocephaly LEXMATCH -MONDO:0018114 isolated brachycephaly skos:exactMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated brachycephaly LEXMATCH -MONDO:0018115 epidermal nevus syndrome skos:exactMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermal nevus syndrome LEXMATCH -MONDO:0018116 galactosemia skos:exactMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia LEXMATCH -MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis skos:exactMatch Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of phospholipids, sphingolipids and fatty acids biosynthesis LEXMATCH -MONDO:0018121 mitochondrial DNA maintenance syndrome skos:exactMatch Orphanet:352456 Mitochondrial DNA maintenance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna maintenance syndrome LEXMATCH -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome skos:exactMatch Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-obesity-brain malformations-facial dysmorphism syndrome LEXMATCH -MONDO:0018124 Oncogenic osteomalacia skos:exactMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oncogenic osteomalacia LEXMATCH -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation skos:exactMatch Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal epilepsy-intellectual disability-cerebro-cerebellar malformation LEXMATCH -MONDO:0018126 progressive myoclonic epilepsy with dystonia skos:exactMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy with dystonia LEXMATCH -MONDO:0018127 16q24.1 microdeletion syndrome skos:exactMatch Orphanet:352629 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16q24.1 microdeletion syndrome LEXMATCH -MONDO:0018128 phalangeal microgeodic syndrome skos:exactMatch Orphanet:352636 Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phalangeal microgeodic syndrome LEXMATCH -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity skos:exactMatch Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebellar ataxia with late-onset spasticity LEXMATCH -MONDO:0018130 brain dopamine-serotonin vesicular transport disease skos:exactMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain dopamine-serotonin vesicular transport disease LEXMATCH -MONDO:0018133 attenuated Chédiak-Higashi syndrome skos:exactMatch Orphanet:352723 Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attenuated chédiak-higashi syndrome LEXMATCH -MONDO:0018134 disorder of melanin metabolism skos:exactMatch Orphanet:352728 Disorder of melanin metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of melanin metabolism LEXMATCH -MONDO:0018135 oculocutaneous albinism type 1 skos:exactMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1 LEXMATCH -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 skos:exactMatch Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label minimal pigment oculocutaneous albinism type 1 LEXMATCH -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temperature-sensitive oculocutaneous albinism type 1 LEXMATCH -MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:exactMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate carboxylase deficiency type a LEXMATCH -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type skos:exactMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate carboxylase deficiency, severe neonatal type LEXMATCH -MONDO:0018143 pyruvate carboxylase deficiency, benign type skos:exactMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate carboxylase deficiency, benign type LEXMATCH -MONDO:0018145 congenital retinal arteriovenous communication skos:exactMatch Orphanet:353334 Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital retinal arteriovenous communication LEXMATCH -MONDO:0018146 idiopathic macular telangiectasia type 1 skos:exactMatch Orphanet:353344 Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic macular telangiectasia type 1 LEXMATCH -MONDO:0018147 idiopathic macular telangiectasia type 3 skos:exactMatch Orphanet:353351 Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic macular telangiectasia type 3 LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:exactMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal vasoproliferative tumor LEXMATCH -MONDO:0018148 vasoproliferative tumor of retina skos:exactMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vasoproliferative tumor of the ocular fundus LEXMATCH -MONDO:0018149 GM1 gangliosidosis skos:exactMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis LEXMATCH -MONDO:0018150 Gaucher disease skos:exactMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gaucher disease LEXMATCH -MONDO:0018151 coenzyme Q10 deficiency skos:exactMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coenzyme q10 deficiency LEXMATCH -MONDO:0018152 serpiginous choroiditis skos:exactMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serpiginous choroiditis LEXMATCH -MONDO:0018153 Erdheim-Chester disease skos:exactMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erdheim-chester disease LEXMATCH -MONDO:0018155 lateral sclerosis skos:exactMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset pls LEXMATCH -MONDO:0018155 lateral sclerosis skos:exactMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset primary lateral sclerosis LEXMATCH -MONDO:0018155 lateral sclerosis skos:exactMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary lateral sclerosis LEXMATCH -MONDO:0018156 3q26q27 microdeletion syndrome skos:exactMatch Orphanet:356947 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q26q27 microdeletion syndrome LEXMATCH -MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome LEXMATCH -MONDO:0018160 hereditary retinoblastoma skos:exactMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary retinoblastoma LEXMATCH -MONDO:0018161 non-hereditary retinoblastoma skos:exactMatch Orphanet:357034 Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hereditary retinoblastoma LEXMATCH -MONDO:0018162 neurometabolic disorder due to serine deficiency skos:exactMatch Orphanet:35705 Neurometabolic disorder due to serine deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurometabolic disorder due to serine deficiency LEXMATCH -MONDO:0018163 autosomal recessive cutis laxa type 2A skos:exactMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2a LEXMATCH -MONDO:0018164 arterial thoracic outlet syndrome skos:exactMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial thoracic outlet syndrome LEXMATCH -MONDO:0018165 venous thoracic outlet syndrome skos:exactMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous thoracic outlet syndrome LEXMATCH -MONDO:0018166 oral submucous fibrosis skos:exactMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis LEXMATCH -MONDO:0018167 primary essential cutis verticis gyrata skos:exactMatch Orphanet:357220 Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary essential cutis verticis gyrata LEXMATCH -MONDO:0018168 primary non-essential cutis verticis gyrata skos:exactMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary non-essential cutis verticis gyrata LEXMATCH -MONDO:0018169 morning glory syndrome skos:exactMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectasic coloboma LEXMATCH -MONDO:0018169 morning glory syndrome skos:exactMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym morning glory syndrome LEXMATCH -MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic nephrotic syndrome LEXMATCH -MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant germ cell tumor of ovary LEXMATCH -MONDO:0018172 malignant sex cord stromal tumor of ovary skos:exactMatch Orphanet:35808 Malignant sex cord stromal tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant sex cord stromal tumor of ovary LEXMATCH -MONDO:0018174 hereditary glaucoma skos:exactMatch Orphanet:359 Pediatric-onset glaucoma of genetic origin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary glaucoma LEXMATCH -MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined deficiency of factor v and factor viii LEXMATCH -MONDO:0018177 glioblastoma skos:exactMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glioblastoma LEXMATCH -MONDO:0018178 intestinal lymphangiectasia skos:exactMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal lymphangiectasia LEXMATCH -MONDO:0018180 staphylococcal scarlet fever skos:exactMatch Orphanet:36235 Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scarlet fever LEXMATCH -MONDO:0018181 staphylococcal scalded skin syndrome skos:exactMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome LEXMATCH -MONDO:0018182 bullous impetigo skos:exactMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous impetigo LEXMATCH -MONDO:0018183 staphylococcal necrotizing pneumonia skos:exactMatch Orphanet:36238 Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal necrotizing pneumonia LEXMATCH -MONDO:0018184 gastric linitis plastica skos:exactMatch Orphanet:36273 Gastric linitis plastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric linitis plastica LEXMATCH -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy skos:exactMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant childhood-onset proximal spinal muscular atrophy LEXMATCH -MONDO:0018192 paratesticular adenocarcinoma skos:exactMatch Orphanet:363478 Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paratesticular adenocarcinoma LEXMATCH -MONDO:0018193 testicular teratoma skos:exactMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label testicular teratoma LEXMATCH -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form skos:exactMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, hepatocerebrorenal form LEXMATCH -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute encephalopathy with biphasic seizures and late reduced diffusion LEXMATCH -MONDO:0018199 new-onset refractory status epilepticus skos:exactMatch Orphanet:363558 New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label new-onset refractory status epilepticus LEXMATCH -MONDO:0018201 extragonadal germ cell tumor skos:exactMatch Orphanet:363579 Extragonadal germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal germ cell tumor LEXMATCH -MONDO:0018202 gonadal germ cell tumor skos:exactMatch Orphanet:363582 Gonadal germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadal germ cell tumor LEXMATCH -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome skos:exactMatch Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lmna-related cardiocutaneous progeria syndrome LEXMATCH -MONDO:0018204 20q11.2 microduplication syndrome skos:exactMatch Orphanet:363659 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q11.2 microduplication syndrome LEXMATCH -MONDO:0018205 distal monosomy 1q skos:exactMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1qter LEXMATCH -MONDO:0018205 distal monosomy 1q skos:exactMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 1q LEXMATCH -MONDO:0018205 distal monosomy 1q skos:exactMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 1q LEXMATCH -MONDO:0018205 distal monosomy 1q skos:exactMatch Orphanet:36367 Distal deletion 1q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 1q LEXMATCH -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia skos:exactMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset autosomal recessive myopathy with external ophthalmoplegia LEXMATCH -MONDO:0018207 2p13.2 microdeletion syndrome skos:exactMatch Orphanet:363680 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p13.2 microdeletion syndrome LEXMATCH -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion skos:exactMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis type 1 due to nf1 mutation or intragenic deletion LEXMATCH -MONDO:0018209 Alexander disease type I skos:exactMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease type i LEXMATCH -MONDO:0018210 Alexander disease type II skos:exactMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease type ii LEXMATCH -MONDO:0018211 Balint syndrome skos:exactMatch Orphanet:363746 Balint syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balint syndrome LEXMATCH -MONDO:0018212 familial cervical artery dissection skos:exactMatch Orphanet:36382 Familial cervical artery dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cervical artery dissection LEXMATCH -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 skos:exactMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 1 LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gefs+ LEXMATCH -MONDO:0018214 generalized epilepsy with febrile seizures plus skos:exactMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic epilepsy with febrile seizures-plus LEXMATCH -MONDO:0018215 paraneoplastic neurologic syndrome skos:exactMatch Orphanet:36388 Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic neurologic syndrome LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:exactMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q21.31) LEXMATCH -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:exactMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q21.31 LEXMATCH -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation skos:exactMatch Orphanet:363965 Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label koolen-de vries syndrome due to a point mutation LEXMATCH -MONDO:0018218 autosomal recessive cerebral atrophy skos:exactMatch Orphanet:363969 Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebral atrophy LEXMATCH -MONDO:0018221 immune hydrops fetalis skos:exactMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune hydrops fetalis LEXMATCH -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood skos:exactMatch Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood LEXMATCH -MONDO:0018224 hydroa vacciniforme-like lymphoma skos:exactMatch Orphanet:364039 Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydroa vacciniforme-like lymphoma LEXMATCH -MONDO:0018225 ALK-positive large B-cell lymphoma skos:exactMatch Orphanet:364043 ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-positive large b-cell lymphoma LEXMATCH -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile epileptic-dyskinetic encephalopathy LEXMATCH -MONDO:0018227 hypocomplementemic urticarial vasculitis skos:exactMatch Orphanet:36412 Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocomplementemic urticarial vasculitis LEXMATCH -MONDO:0018228 bipartite talus skos:exactMatch Orphanet:364198 Bipartite talus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bipartite talus LEXMATCH -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stevens-johnson syndrome LEXMATCH -MONDO:0018230 skeletal dysplasia skos:exactMatch Orphanet:364526 Primary bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary osteodysplasia LEXMATCH -MONDO:0018230 skeletal dysplasia skos:exactMatch Orphanet:364526 Primary bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary skeletal dysplasia LEXMATCH -MONDO:0018230 skeletal dysplasia skos:exactMatch Orphanet:364526 Primary bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary bone dysplasia LEXMATCH -MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:exactMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome spectrum disorder LEXMATCH -MONDO:0018234 dysostosis skos:exactMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis LEXMATCH -MONDO:0018237 acrofacial dysostosis skos:exactMatch Orphanet:364574 Acrofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis LEXMATCH -MONDO:0018239 aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggrecan-related bone disorder LEXMATCH -MONDO:0018240 TRPV4-related bone disorder skos:exactMatch Orphanet:364820 TRPV4-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trpv4-related bone disorder LEXMATCH -MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hypoparathyroidism LEXMATCH -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome skos:exactMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hyperkinetic movement-truncal ataxia syndrome LEXMATCH -MONDO:0018244 obesity due to SIM1 deficiency skos:exactMatch Orphanet:369873 Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to sim1 deficiency LEXMATCH -MONDO:0018245 2p21 microdeletion syndrome without cystinuria skos:exactMatch Orphanet:369881 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p21 microdeletion syndrome without cystinuria LEXMATCH -MONDO:0018247 CADDS skos:exactMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadds LEXMATCH -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome skos:exactMatch Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-seizures-macrocephaly-obesity syndrome LEXMATCH -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures skos:exactMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse palmoplantar keratoderma with painful fissures LEXMATCH -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses skos:exactMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar keratoderma with joint keratoses LEXMATCH -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome skos:exactMatch Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-facial dysmorphism-hand anomalies syndrome LEXMATCH -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation skos:exactMatch Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(8;16)(p11;p13) translocation LEXMATCH -MONDO:0018257 familial syringomyelia skos:exactMatch Orphanet:370034 Familial syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial syringomyelia LEXMATCH -MONDO:0018258 Angora hair nevus skos:exactMatch Orphanet:370039 Angora hair nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angora hair nevus LEXMATCH -MONDO:0018259 didymosis aplasticosebacea skos:exactMatch Orphanet:370046 Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label didymosis aplasticosebacea LEXMATCH -MONDO:0018260 scalp syndrome skos:exactMatch Orphanet:370052 SCALP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp syndrome LEXMATCH -MONDO:0018261 Nevada syndrome skos:exactMatch Orphanet:370059 NEVADA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevada syndrome LEXMATCH -MONDO:0018262 fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal anticonvulsant syndrome LEXMATCH -MONDO:0018263 fetal carbamazepine syndrome skos:exactMatch Orphanet:370076 Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal carbamazepine syndrome LEXMATCH -MONDO:0018264 oculocutaneous albinism type 6 skos:exactMatch Orphanet:370097 Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 6 LEXMATCH -MONDO:0018266 ataxia - telangiectasia variant skos:exactMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym v-at LEXMATCH -MONDO:0018268 Medich giant platelet syndrome skos:exactMatch Orphanet:370127 Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medich giant platelet syndrome LEXMATCH -MONDO:0018269 white platelet syndrome skos:exactMatch Orphanet:370131 White platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white platelet syndrome LEXMATCH -MONDO:0018270 extraskeletal Ewing sarcoma skos:exactMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraskeletal ewing sarcoma LEXMATCH -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral primitive neuroectodermal tumor LEXMATCH -MONDO:0018274 GM3 synthase deficiency skos:exactMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm3 synthase deficiency LEXMATCH -MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:exactMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd due to dystroglycanopathy LEXMATCH -MONDO:0018278 congenital muscular dystrophy with intellectual disability skos:exactMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with intellectual disability LEXMATCH -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy skos:exactMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscle-eye-brain disease with bilateral multicystic leucodystrophy LEXMATCH -MONDO:0018281 congenital muscular dystrophy with hyperlaxity skos:exactMatch Orphanet:371007 Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with hyperlaxity LEXMATCH -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-dystroglycan LEXMATCH -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum skos:exactMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric osteolysis-nodulosis-arthropathy spectrum LEXMATCH -MONDO:0018301 interstitial cystitis skos:exactMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial cystitis LEXMATCH -MONDO:0018302 acquired kinky hair syndrome skos:exactMatch Orphanet:37559 Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired kinky hair syndrome LEXMATCH -MONDO:0018304 Schnitzler syndrome skos:exactMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schnitzler syndrome LEXMATCH -MONDO:0018305 chronic granulomatous disease skos:exactMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic granulomatous disease LEXMATCH -MONDO:0018306 Griscelli syndrome skos:exactMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome LEXMATCH -MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym biliary hamartoma LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenchymal hamartoma of liver LEXMATCH -MONDO:0018308 liver mesenchymal hamartoma skos:exactMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von meyenburg complexes disease LEXMATCH -MONDO:0018309 Hirschsprung disease skos:exactMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease LEXMATCH -MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langerhans cell histiocytosis LEXMATCH -MONDO:0018311 acromelanosis skos:exactMatch Orphanet:39 Acromelanosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromelanosis LEXMATCH -MONDO:0018312 histoplasmosis skos:exactMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis LEXMATCH -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression skos:exactMatch Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset mesial temporal lobe epilepsy with severe cognitive regression LEXMATCH -MONDO:0018315 X-linked osteoporosis with fractures skos:exactMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked osteoporosis with fractures LEXMATCH -MONDO:0018316 fatal post-viral neurodegenerative disorder skos:exactMatch Orphanet:391343 Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal post-viral neurodegenerative disorder LEXMATCH -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome skos:exactMatch Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth retardation-mild developmental delay-chronic hepatitis syndrome LEXMATCH -MONDO:0018319 familial episodic pain syndrome skos:exactMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome LEXMATCH -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome skos:exactMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary microcephaly-mild intellectual disability-young-onset diabetes syndrome LEXMATCH -MONDO:0018321 atypical juvenile parkinsonism skos:exactMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical juvenile parkinsonism LEXMATCH -MONDO:0018322 HSD10 disease, infantile type skos:exactMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, infantile type LEXMATCH -MONDO:0018323 HSD10 disease, neonatal type skos:exactMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, neonatal type LEXMATCH -MONDO:0018324 adult-onset myasthenia gravis skos:exactMatch Orphanet:391490 Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset myasthenia gravis LEXMATCH -MONDO:0018325 juvenile myasthenia gravis skos:exactMatch Orphanet:391497 Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myasthenia gravis LEXMATCH -MONDO:0018326 transient neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis LEXMATCH -MONDO:0018327 glomus tumor skos:exactMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glomus tumor LEXMATCH -MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homozygous familial hypercholesterolemia LEXMATCH -MONDO:0018330 mucinous adenocarcinoma of the appendix skos:exactMatch Orphanet:391723 Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucinous adenocarcinoma of the appendix LEXMATCH -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type skos:exactMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency, severe neonatal type LEXMATCH -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type skos:exactMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency, mild type LEXMATCH -MONDO:0018334 chronic hiccup skos:exactMatch Orphanet:396 Chronic hiccup semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic hiccup LEXMATCH -MONDO:0018338 activated PI3K-delta syndrome skos:exactMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label activated pi3k-delta syndrome LEXMATCH -MONDO:0018339 PrP systemic amyloidosis skos:exactMatch Orphanet:397606 PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prp systemic amyloidosis LEXMATCH -MONDO:0018341 3q27.3 microdeletion syndrome skos:exactMatch Orphanet:397695 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q27.3 microdeletion syndrome LEXMATCH -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy skos:exactMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with jeune asphyxiating thoracic dystrophy LEXMATCH -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy skos:exactMatch Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis with later-onset distal motor neuropathy LEXMATCH -MONDO:0018346 ferro-cerebro-cutaneous syndrome skos:exactMatch Orphanet:397922 Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ferro-cerebro-cutaneous syndrome LEXMATCH -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome skos:exactMatch Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iqsec2-related syndromic intellectual disability LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2 due to man1b1 deficiency LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii due to man1b1 deficiency LEXMATCH -MONDO:0018349 MAN1B1-congenital disorder of glycosylation skos:exactMatch Orphanet:397941 MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-truncal obesity syndrome LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile squamous cell carcinoma LEXMATCH -MONDO:0018352 squamous cell carcinoma of penis skos:exactMatch Orphanet:398058 Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the penis LEXMATCH -MONDO:0018353 refractory celiac disease skos:exactMatch Orphanet:398063 Refractory celiac disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractory celiac disease LEXMATCH -MONDO:0018354 Prader-Willi-like syndrome skos:exactMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi-like syndrome LEXMATCH -MONDO:0018355 SIM1-related Prader-Willi-like syndrome skos:exactMatch Orphanet:398079 SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sim1-related prader-willi-like syndrome LEXMATCH -MONDO:0018356 secondary neonatal autoimmune disease skos:exactMatch Orphanet:398091 Secondary neonatal autoimmune disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary neonatal autoimmune disease LEXMATCH -MONDO:0018357 neonatal antiphospholipid syndrome skos:exactMatch Orphanet:398097 Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal antiphospholipid syndrome LEXMATCH -MONDO:0018358 neonatal autoimmune hemolytic anemia skos:exactMatch Orphanet:398109 Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal autoimmune hemolytic anemia LEXMATCH -MONDO:0018359 neonatal dermatomyositis skos:exactMatch Orphanet:398117 Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal dermatomyositis LEXMATCH -MONDO:0018360 neonatal lupus erythematosus skos:exactMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal lupus erythematosus LEXMATCH -MONDO:0018361 neonatal scleroderma skos:exactMatch Orphanet:398127 Neonatal scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal scleroderma LEXMATCH -MONDO:0018362 persistent idiopathic facial pain skos:exactMatch Orphanet:398147 Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent idiopathic facial pain LEXMATCH -MONDO:0018363 focal facial dermal dysplasia skos:exactMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia LEXMATCH -MONDO:0018364 malignant epithelial tumor of ovary skos:exactMatch Orphanet:398934 Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant epithelial tumor of ovary LEXMATCH -MONDO:0018365 malignant non-epithelial tumor of ovary skos:exactMatch Orphanet:398940 Malignant non-epithelial tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant non-epithelial tumor of ovary LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:exactMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immature teratoma of ovary LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:exactMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian immature teratoma LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:exactMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant teratoma LEXMATCH -MONDO:0018369 immature ovarian teratoma skos:exactMatch Orphanet:398987 Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant teratoma of ovary LEXMATCH -MONDO:0018370 KLHL9-related early-onset distal myopathy skos:exactMatch Orphanet:399081 KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klhl9-related early-onset distal myopathy LEXMATCH -MONDO:0018371 nebulin-related early-onset distal myopathy skos:exactMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nebulin-related early-onset distal myopathy LEXMATCH -MONDO:0018373 avascular necrosis skos:exactMatch Orphanet:399164 Avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis LEXMATCH -MONDO:0018374 secondary avascular necrosis skos:exactMatch Orphanet:399169 Secondary avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary avascular necrosis LEXMATCH -MONDO:0018375 traumatic avascular necrosis skos:exactMatch Orphanet:399175 Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label traumatic avascular necrosis LEXMATCH -MONDO:0018376 secondary non-traumatic avascular necrosis skos:exactMatch Orphanet:399180 Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary non-traumatic avascular necrosis LEXMATCH -MONDO:0018378 osteonecrosis of the jaw skos:exactMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis of the jaw LEXMATCH -MONDO:0018379 primary avascular necrosis skos:exactMatch Orphanet:399302 Primary avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary avascular necrosis LEXMATCH -MONDO:0018380 idiopathic avascular necrosis skos:exactMatch Orphanet:399307 Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic avascular necrosis LEXMATCH -MONDO:0018381 osteochondrosis skos:exactMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrosis LEXMATCH -MONDO:0018382 epiphysiolysis of the hip skos:exactMatch Orphanet:399329 Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphysiolysis of the hip LEXMATCH -MONDO:0018383 osteonecrosis of genetic origin skos:exactMatch Orphanet:399380 Osteonecrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis of genetic origin LEXMATCH -MONDO:0018384 avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis of genetic origin LEXMATCH -MONDO:0018385 osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrosis of genetic origin LEXMATCH -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation skos:exactMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility with teratozoospermia due to single gene mutation LEXMATCH -MONDO:0018408 cystic echinococcosis skos:exactMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic echinococcosis LEXMATCH -MONDO:0018416 autosomal recessive spastic paraplegia type 59 skos:exactMatch Orphanet:401795 Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 59 LEXMATCH -MONDO:0018417 autosomal recessive spastic paraplegia type 60 skos:exactMatch Orphanet:401800 Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 60 LEXMATCH -MONDO:0018418 autosomal recessive spastic paraplegia type 66 skos:exactMatch Orphanet:401815 Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 66 LEXMATCH -MONDO:0018419 autosomal recessive spastic paraplegia type 67 skos:exactMatch Orphanet:401820 Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 67 LEXMATCH -MONDO:0018421 autosomal recessive spastic paraplegia type 69 skos:exactMatch Orphanet:401830 Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 69 LEXMATCH -MONDO:0018422 autosomal recessive spastic paraplegia type 70 skos:exactMatch Orphanet:401835 Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 70 LEXMATCH -MONDO:0018423 autosomal recessive spastic paraplegia type 71 skos:exactMatch Orphanet:401840 Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 71 LEXMATCH -MONDO:0018424 inherited lipoic acid biosynthesis defect skos:exactMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoate biosynthesis defect LEXMATCH -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions skos:exactMatch Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like syndrome due to c9orf72 expansions LEXMATCH -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axin2-related attenuated familial adenomatous polyposis LEXMATCH -MONDO:0018428 9q31.1q31.3 microdeletion syndrome skos:exactMatch Orphanet:401923 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q31.1q31.3 microdeletion syndrome LEXMATCH -MONDO:0018429 14q24.1q24.3 microdeletion syndrome skos:exactMatch Orphanet:401935 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q24.1q24.3 microdeletion syndrome LEXMATCH -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome skos:exactMatch Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome LEXMATCH -MONDO:0018432 lichen myxedematosus skos:exactMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen myxedematosus LEXMATCH -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(6;9)(p23;q34) LEXMATCH -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) skos:exactMatch Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(9;11)(p22;q23) LEXMATCH -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) skos:exactMatch Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) LEXMATCH -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations skos:exactMatch Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with npm1 somatic mutations LEXMATCH -MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch Orphanet:402029 Primary eosinophilic gastrointestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary eosinophilic gastrointestinal disease LEXMATCH -MONDO:0018439 eosinophilic colitis skos:exactMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic colitis LEXMATCH -MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:exactMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive distal renal tubular acidosis LEXMATCH -MONDO:0018442 acitretin/etretinate embryopathy skos:exactMatch Orphanet:40366 Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acitretin/etretinate embryopathy LEXMATCH -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome skos:exactMatch Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome LEXMATCH -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:exactMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glow syndrome LEXMATCH -MONDO:0018447 chondromyxoid fibroma skos:exactMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromyxoid fibroma LEXMATCH -MONDO:0018448 clear cell papillary renal cell carcinoma skos:exactMatch Orphanet:404511 Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell papillary renal cell carcinoma LEXMATCH -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma skos:exactMatch Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disease-associated renal cell carcinoma LEXMATCH -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 skos:exactMatch Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy with respiratory distress type 2 LEXMATCH -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atypical multiple mole melanoma syndrome LEXMATCH -MONDO:0018454 dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis of genetic origin LEXMATCH -MONDO:0018456 polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:404580 Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarticular juvenile idiopathic arthritis LEXMATCH -MONDO:0018458 familial hypocalciuric hypercalcemia skos:exactMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypocalciuric hypercalcemia LEXMATCH -MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated glycerol kinase deficiency LEXMATCH -MONDO:0018460 Eales disease skos:exactMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eales disease LEXMATCH -MONDO:0018461 Angelman syndrome due to a point mutation skos:exactMatch Orphanet:411511 Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to a point mutation LEXMATCH -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 skos:exactMatch Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to imprinting defect in 15q11-q13 LEXMATCH -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild phosphoribosylpyrophosphate synthetase superactivity LEXMATCH -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe phosphoribosylpyrophosphate synthetase superactivity LEXMATCH -MONDO:0018465 insulin autoimmune syndrome skos:exactMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin autoimmune syndrome LEXMATCH -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia skos:exactMatch Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proton-pump inhibitor-responsive esophageal eosinophilia LEXMATCH -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection skos:exactMatch Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary non-tuberculous mycobacterial infection LEXMATCH -MONDO:0018470 renal agenesis skos:exactMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis LEXMATCH -MONDO:0018471 generalized eruptive keratoacanthoma skos:exactMatch Orphanet:411777 Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized eruptive keratoacanthoma LEXMATCH -MONDO:0018472 familial isolated trichomegaly skos:exactMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated trichomegaly LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hlp type 3 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia type 3 LEXMATCH -MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlipoproteinemia type 3 LEXMATCH -MONDO:0018474 13q12.3 microdeletion syndrome skos:exactMatch Orphanet:412035 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 13q12.3 microdeletion syndrome LEXMATCH -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments skos:exactMatch Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prkar1b-related neurodegenerative dementia with intermediate filaments LEXMATCH -MONDO:0018476 dystonia-aphonia syndrome skos:exactMatch Orphanet:412217 Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia-aphonia syndrome LEXMATCH -MONDO:0018477 bilirubin encephalopathy skos:exactMatch Orphanet:415286 Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilirubin encephalopathy LEXMATCH -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia LEXMATCH -MONDO:0018480 carcinoma of esophagus, salivary gland type skos:exactMatch Orphanet:418945 Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of esophagus, salivary gland type LEXMATCH -MONDO:0018481 undifferentiated carcinoma of esophagus skos:exactMatch Orphanet:418951 Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of esophagus LEXMATCH -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch Orphanet:420259 Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary pulmonary alveolar proteinosis LEXMATCH -MONDO:0018484 semicircular canal dehiscence syndrome skos:exactMatch Orphanet:420402 Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semicircular canal dehiscence syndrome LEXMATCH -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:exactMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to acid maltase deficiency, late-onset LEXMATCH -MONDO:0018486 visual snow syndrome skos:exactMatch Orphanet:420556 Visual snow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visual snow syndrome LEXMATCH -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency skos:exactMatch Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to cxcr2 deficiency LEXMATCH -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea skos:exactMatch Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalopathy with parasomnia and obstructive sleep apnea LEXMATCH -MONDO:0018490 cono-spondylar dysplasia skos:exactMatch Orphanet:420794 Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cono-spondylar dysplasia LEXMATCH -MONDO:0018492 hereditary clear cell renal cell carcinoma skos:exactMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary clear cell renal cell carcinoma LEXMATCH -MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant hyperthermia of anesthesia LEXMATCH -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-short stature-intellectual disability-facial dysmorphism syndrome LEXMATCH -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome skos:exactMatch Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome LEXMATCH -MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arx-related encephalopathy-brain malformation spectrum LEXMATCH -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect skos:exactMatch Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subaortic or doubly committed ventricular septal defect LEXMATCH -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy skos:exactMatch Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy LEXMATCH -MONDO:0018500 cutaneous larva migrans skos:exactMatch Orphanet:423717 Cutaneous larva migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous larva migrans LEXMATCH -MONDO:0018502 hereditary gastric cancer skos:exactMatch Orphanet:423776 Hereditary gastric cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary gastric cancer LEXMATCH -MONDO:0018504 undifferentiated carcinoma of stomach skos:exactMatch Orphanet:423786 Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of stomach LEXMATCH -MONDO:0018506 mesenchymal tumor of small intestine skos:exactMatch Orphanet:423798 Mesenchymal tumor of small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesenchymal tumor of small intestine LEXMATCH -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome skos:exactMatch Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-complex motor and sensory axonal neuropathy syndrome LEXMATCH -MONDO:0018509 squamous cell carcinoma of the small intestine skos:exactMatch Orphanet:423968 Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of the small intestine LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the small intestine LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine neoplasm of the small intestine LEXMATCH -MONDO:0018510 small intestine neuroendocrine neoplasm skos:exactMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumor of small bowel LEXMATCH -MONDO:0018511 epithelial tumor of the appendix skos:exactMatch Orphanet:423982 Epithelial tumor of the appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial tumor of the appendix LEXMATCH -MONDO:0018513 squamous cell carcinoma of colon skos:exactMatch Orphanet:423994 Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the colon LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal squamous cell carcinoma LEXMATCH -MONDO:0018515 squamous cell carcinoma of rectum skos:exactMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the rectum LEXMATCH -MONDO:0018516 epithelial tumor of anal canal skos:exactMatch Orphanet:424010 Epithelial tumor of anal canal semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial tumor of anal canal LEXMATCH -MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch Orphanet:424039 Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of pancreas LEXMATCH -MONDO:0018525 solid pseudopapillary carcinoma of pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solid pseudopapillary carcinoma of pancreas LEXMATCH -MONDO:0018528 congenital myopathy with myasthenic-like onset skos:exactMatch Orphanet:424107 Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with myasthenic-like onset LEXMATCH -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of liver and intrahepatic biliary tract LEXMATCH -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of liver and intrahepatic biliary tract LEXMATCH -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract skos:exactMatch Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of liver and intrahepatic biliary tract LEXMATCH -MONDO:0018535 biliary cystadenocarcinoma skos:exactMatch Orphanet:424982 Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biliary cystadenocarcinoma LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of the gallbladder and ebt LEXMATCH -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the gallbladder and extrahepatic biliary tract LEXMATCH -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of gallbladder and extrahepatic biliary tract LEXMATCH -MONDO:0018540 PFAPA syndrome skos:exactMatch Orphanet:42642 PFAPA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfapa syndrome LEXMATCH -MONDO:0018541 familial hypoaldosteronism skos:exactMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypoaldosteronism LEXMATCH -MONDO:0018542 severe congenital neutropenia skos:exactMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia LEXMATCH -MONDO:0018543 autosomal dominant hypocalcemia skos:exactMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypocalcemia LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:exactMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-ald LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:exactMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked ald LEXMATCH -MONDO:0018544 adrenoleukodystrophy skos:exactMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked adrenoleukodystrophy LEXMATCH -MONDO:0018546 serotonin syndrome skos:exactMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serotonin syndrome LEXMATCH -MONDO:0018547 acute tricyclic antidepressant poisoning skos:exactMatch Orphanet:43117 Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tricyclic antidepressant poisoning LEXMATCH -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect skos:exactMatch Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute poisoning by drugs with membrane-stabilizing effect LEXMATCH -MONDO:0018551 patent urachus skos:exactMatch Orphanet:431341 Patent urachus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent urachus LEXMATCH -MONDO:0018552 urachal sinus skos:exactMatch Orphanet:431344 Urachal sinus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal sinus LEXMATCH -MONDO:0018553 urachal diverticulum skos:exactMatch Orphanet:431347 Urachal diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal diverticulum LEXMATCH -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropic deficiency LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nihh LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym normosmic idiopathic hypogonadotropic hypogonadism LEXMATCH -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label normosmic congenital hypogonadotropic hypogonadism LEXMATCH -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:exactMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lambert-eaton myasthenic syndrome LEXMATCH -MONDO:0018559 fetal lower urinary tract obstruction skos:exactMatch Orphanet:435365 Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lower urinary tract obstruction LEXMATCH -MONDO:0018564 3p25.3 microdeletion syndrome skos:exactMatch Orphanet:435638 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3p25.3 microdeletion syndrome LEXMATCH -MONDO:0018565 congenital urachal anomaly skos:exactMatch Orphanet:435743 Congenital urachal anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital urachal anomaly LEXMATCH -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome skos:exactMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-advanced bone age-early-onset osteoarthritis syndrome LEXMATCH -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation skos:exactMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation LEXMATCH -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome skos:exactMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome LEXMATCH -MONDO:0018570 hypophosphatasia skos:exactMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatasia LEXMATCH -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome skos:exactMatch Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures-developmental delay-pierre robin syndrome LEXMATCH -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome skos:exactMatch Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome LEXMATCH -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome skos:exactMatch Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrauterine growth restriction-short stature-early adult-onset diabetes syndrome LEXMATCH -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome skos:exactMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-expressive aphasia-facial dysmorphism syndrome LEXMATCH -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy skos:exactMatch Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy LEXMATCH -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa skos:exactMatch Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa LEXMATCH -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:exactMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive encephalomyelitis with rigidity and myoclonus LEXMATCH -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch Orphanet:438274 GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gcgr-related hyperglucagonemia LEXMATCH -MONDO:0018583 human infection by orthopoxvirus skos:exactMatch Orphanet:438279 Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label human infection by orthopoxvirus LEXMATCH -MONDO:0018585 pediatric arterial ischemic stroke skos:exactMatch Orphanet:439175 Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric arterial ischemic stroke LEXMATCH -MONDO:0018586 zinc-responsive necrolytic acral erythema skos:exactMatch Orphanet:439196 Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zinc-responsive necrolytic acral erythema LEXMATCH -MONDO:0018587 non-recovering obstetric brachial plexus lesion skos:exactMatch Orphanet:439202 Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-recovering obstetric brachial plexus lesion LEXMATCH -MONDO:0018588 ALECT2 amyloidosis skos:exactMatch Orphanet:439224 ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alect2 amyloidosis LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:exactMatch Orphanet:439232 AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aapoaiv amyloidosis LEXMATCH -MONDO:0018590 ABeta2M amyloidosis skos:exactMatch Orphanet:439246 ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta2m amyloidosis LEXMATCH -MONDO:0018591 ITM2B amyloidosis skos:exactMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label itm2b amyloidosis LEXMATCH -MONDO:0018592 cutaneous polyarteritis nodosa skos:exactMatch Orphanet:439729 Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous polyarteritis nodosa LEXMATCH -MONDO:0018593 primary polyarteritis nodosa skos:exactMatch Orphanet:439737 Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary polyarteritis nodosa LEXMATCH -MONDO:0018594 secondary polyarteritis nodosa skos:exactMatch Orphanet:439746 Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polyarteritis nodosa LEXMATCH -MONDO:0018595 single-organ polyarteritis nodosa skos:exactMatch Orphanet:439755 Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label single-organ polyarteritis nodosa LEXMATCH -MONDO:0018596 systemic polyarteritis nodosa skos:exactMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic polyarteritis nodosa LEXMATCH -MONDO:0018597 plastic bronchitis skos:exactMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plastic bronchitis LEXMATCH -MONDO:0018599 congenital oculomotor nerve palsy skos:exactMatch Orphanet:440221 Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital oculomotor nerve palsy LEXMATCH -MONDO:0018600 congenital abducens nerve palsy skos:exactMatch Orphanet:440233 Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital abducens nerve palsy LEXMATCH -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome skos:exactMatch Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome LEXMATCH -MONDO:0018602 necrotizing soft tissue infection skos:exactMatch Orphanet:440368 Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing soft tissue infection LEXMATCH -MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease due to sp-c deficiency LEXMATCH -MONDO:0018604 familial colorectal cancer type X skos:exactMatch Orphanet:440437 Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial colorectal cancer type x LEXMATCH -MONDO:0018605 disorders of pentose/polyol metabolism skos:exactMatch Orphanet:440701 Disorders of pentose/polyol metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorders of pentose/polyol metabolism LEXMATCH -MONDO:0018606 extensive peripapillary myelinated nerve fibers skos:exactMatch Orphanet:440724 Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensive peripapillary myelinated nerve fibers LEXMATCH -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium skos:exactMatch Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium LEXMATCH -MONDO:0018608 pure autonomic failure skos:exactMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure autonomic failure LEXMATCH -MONDO:0018610 early-onset posterior subcapsular cataract skos:exactMatch Orphanet:441447 Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset posterior subcapsular cataract LEXMATCH -MONDO:0018611 early-onset lamellar cataract skos:exactMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset lamellar cataract LEXMATCH -MONDO:0018612 congenital hypothyroidism skos:exactMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypothyroidism LEXMATCH -MONDO:0018613 AH amyloidosis skos:exactMatch Orphanet:442582 AH amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:exactMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undetermined early-onset epileptic encephalopathy LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:exactMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undetermined eoee LEXMATCH -MONDO:0018614 undetermined early-onset epileptic encephalopathy skos:exactMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undetermined early-onset epileptic encephalopathy LEXMATCH -MONDO:0018615 hemicrania continua skos:exactMatch Orphanet:443070 Hemicrania continua semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemicrania continua LEXMATCH -MONDO:0018616 central serous chorioretinopathy skos:exactMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central serous chorioretinopathy LEXMATCH -MONDO:0018617 baroreflex failure skos:exactMatch Orphanet:443084 Baroreflex failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baroreflex failure LEXMATCH -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothalamic adipsic hypernatraemia syndrome LEXMATCH -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production skos:exactMatch Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoplasmacytic lymphoma without igm production LEXMATCH -MONDO:0018623 postpartum psychosis skos:exactMatch Orphanet:443173 Postpartum psychosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum psychosis LEXMATCH -MONDO:0018624 spontaneous intracranial hypotension skos:exactMatch Orphanet:443180 Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous intracranial hypotension LEXMATCH -MONDO:0018625 classic stiff person syndrome skos:exactMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic stiff person syndrome LEXMATCH -MONDO:0018626 paratyphoid fever skos:exactMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paratyphoid fever LEXMATCH -MONDO:0018628 HIV-associated cancer skos:exactMatch Orphanet:443291 HIV-associated cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hiv-associated cancer LEXMATCH -MONDO:0018629 focal stiff limb syndrome skos:exactMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal stiff limb syndrome LEXMATCH -MONDO:0018630 hereditary nonpolyposis colon cancer skos:exactMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary nonpolyposis colon cancer LEXMATCH -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:exactMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marie unna hereditary hypotrichosis LEXMATCH -MONDO:0018632 11q22.2q22.3 microdeletion syndrome skos:exactMatch Orphanet:444002 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 11q22.2q22.3 microdeletion syndrome LEXMATCH -MONDO:0018633 20q11.2 microdeletion syndrome skos:exactMatch Orphanet:444051 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q11.2 microdeletion syndrome LEXMATCH -MONDO:0018634 hereditary amyloidosis skos:exactMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary amyloidosis LEXMATCH -MONDO:0018635 idiopathic phalangeal acro-osteolysis skos:exactMatch Orphanet:444316 Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic phalangeal acro-osteolysis LEXMATCH -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome skos:exactMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome LEXMATCH -MONDO:0018637 familial chylomicronemia syndrome skos:exactMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial chylomicronemia syndrome LEXMATCH -MONDO:0018638 pseudohypoaldosteronism skos:exactMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism LEXMATCH -MONDO:0018639 caudal regression-sirenomelia spectrum skos:exactMatch Orphanet:444941 Caudal regression-sirenomelia spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal regression-sirenomelia spectrum LEXMATCH -MONDO:0018640 secondary vasculitis skos:exactMatch Orphanet:445197 Secondary vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary vasculitis LEXMATCH -MONDO:0018642 NIK deficiency skos:exactMatch Orphanet:447731 NIK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nik deficiency LEXMATCH -MONDO:0018643 susceptibility to localized juvenile periodontitis skos:exactMatch Orphanet:447740 Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susceptibility to localized juvenile periodontitis LEXMATCH -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B skos:exactMatch Orphanet:447757 Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad-spg9b LEXMATCH -MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch Orphanet:447764 IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related sclerosing cholangitis LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis LEXMATCH -MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing cholangitis LEXMATCH -MONDO:0018647 secondary sclerosing cholangitis skos:exactMatch Orphanet:447774 Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary sclerosing cholangitis LEXMATCH -MONDO:0018648 Keratocystic odontogenic tumor skos:exactMatch Orphanet:447777 Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratocystic odontogenic tumor LEXMATCH -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis skos:exactMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymerase proofreading-related adenomatous polyposis LEXMATCH -MONDO:0018654 idiopathic dropped head syndrome skos:exactMatch Orphanet:447881 Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic dropped head syndrome LEXMATCH -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome LEXMATCH -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome skos:exactMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tremor-ataxia-central hypomyelination syndrome LEXMATCH -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:exactMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome LEXMATCH -MONDO:0018658 19p13.3 microduplication syndrome skos:exactMatch Orphanet:447980 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 19p13.3 microduplication syndrome LEXMATCH -MONDO:0018659 partial duplication of the short arm of chromosome 19 skos:exactMatch Orphanet:447985 Partial duplication of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 19 LEXMATCH -MONDO:0018660 hemophilia skos:exactMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:exactMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zika virus infection LEXMATCH -MONDO:0018661 Zika virus infectious disease skos:exactMatch Orphanet:448237 Zika virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zika virus disease LEXMATCH -MONDO:0018662 autosomal recessive brachyolmia skos:exactMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive brachyolmia LEXMATCH -MONDO:0018663 regressive spondylometaphyseal dysplasia skos:exactMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regressive spondylometaphyseal dysplasia LEXMATCH -MONDO:0018664 ectopia cordis skos:exactMatch Orphanet:448270 Ectopia cordis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopia cordis LEXMATCH -MONDO:0018666 hepatoblastoma skos:exactMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoblastoma LEXMATCH -MONDO:0018667 pleural empyema skos:exactMatch Orphanet:449266 Pleural empyema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural empyema LEXMATCH -MONDO:0018668 scedosporiosis skos:exactMatch Orphanet:449280 Scedosporiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scedosporiosis LEXMATCH -MONDO:0018669 snakebite envenomation skos:exactMatch Orphanet:449285 Snakebite envenomation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label snakebite envenomation LEXMATCH -MONDO:0018671 IgG4-related kidney disease skos:exactMatch Orphanet:449395 IgG4-related kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related kidney disease LEXMATCH -MONDO:0018672 IgG4-related aortitis skos:exactMatch Orphanet:449400 IgG4-related aortitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related aortitis LEXMATCH -MONDO:0018673 IgG4-related pachymeningitis skos:exactMatch Orphanet:449427 IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related pachymeningitis LEXMATCH -MONDO:0018674 IgG4-related submandibular gland disease skos:exactMatch Orphanet:449432 IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related submandibular gland disease LEXMATCH -MONDO:0018676 eosinophilic angiocentric fibrosis skos:exactMatch Orphanet:449566 Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic angiocentric fibrosis LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete situs inversus LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial situs inversus LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs ambiguous LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:157769 Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label situs ambiguus LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heterotaxy syndrome LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lateralization defect LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym visceral heterotaxy LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label heterotaxia LEXMATCH -MONDO:0018677 visceral heterotaxy skos:exactMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym visceral heterotaxy LEXMATCH -MONDO:0018678 polyclonal hyperviscosity syndrome skos:exactMatch Orphanet:450322 Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyclonal hyperviscosity syndrome LEXMATCH -MONDO:0018679 primary cutaneous plasmacytosis skos:exactMatch Orphanet:451602 Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous plasmacytosis LEXMATCH -MONDO:0018680 cutaneous pseudolymphoma skos:exactMatch Orphanet:451607 Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous pseudolymphoma LEXMATCH -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability skos:exactMatch Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital insensitivity to pain with severe intellectual disability LEXMATCH -MONDO:0018683 acquired ichthyosis skos:exactMatch Orphanet:454 Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis LEXMATCH -MONDO:0018684 idiopathic neonatal atrial flutter skos:exactMatch Orphanet:45452 Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic neonatal atrial flutter LEXMATCH -MONDO:0018685 incessant infant ventricular tachycardia skos:exactMatch Orphanet:45453 Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incessant infant ventricular tachycardia LEXMATCH -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired creutzfeldt-jakob disease LEXMATCH -MONDO:0018687 progressive muscular atrophy skos:exactMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive muscular atrophy LEXMATCH -MONDO:0018688 anti-p200 pemphigoid skos:exactMatch Orphanet:454710 Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-p200 pemphigoid LEXMATCH -MONDO:0018689 plasma cell leukemia skos:exactMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasma cell leukemia LEXMATCH -MONDO:0018690 Holmes-Adie syndrome skos:exactMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holmes-adie syndrome LEXMATCH -MONDO:0018692 variably protease-sensitive prionopathy skos:exactMatch Orphanet:454742 Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variably protease-sensitive prionopathy LEXMATCH -MONDO:0018694 isolated tracheo-esophageal fistula skos:exactMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h-type tracheoesophageal fistula LEXMATCH -MONDO:0018695 avian influenza skos:exactMatch Orphanet:454836 Avian influenza semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avian influenza LEXMATCH -MONDO:0018696 corticobasal syndrome skos:exactMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticobasal syndrome LEXMATCH -MONDO:0018697 1p35.2 microdeletion syndrome skos:exactMatch Orphanet:456298 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1p35.2 microdeletion syndrome LEXMATCH -MONDO:0018698 hereditary neuroendocrine tumor of small intestine skos:exactMatch Orphanet:456333 Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neuroendocrine tumor of small intestine LEXMATCH -MONDO:0018701 congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital nemaline myopathy LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:exactMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome LEXMATCH -MONDO:0018702 Castleman-Kojima disease skos:exactMatch Orphanet:457077 TAFRO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tafro syndrome LEXMATCH -MONDO:0018703 isolated splenogonadal fusion skos:exactMatch Orphanet:457083 Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated splenogonadal fusion LEXMATCH -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome skos:exactMatch Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome LEXMATCH -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect skos:exactMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic sensorineural deafness due to combined oxidative phosphorylation defect LEXMATCH -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome skos:exactMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypotonia-movement disorder syndrome LEXMATCH -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome skos:exactMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-severe kyphoscoliosis-overgrowth syndrome LEXMATCH -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome LEXMATCH -MONDO:0018712 composite hemangioendothelioma skos:exactMatch Orphanet:458758 Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label composite hemangioendothelioma LEXMATCH -MONDO:0018713 retiform hemangioendothelioma skos:exactMatch Orphanet:458763 Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retiform hemangioendothelioma LEXMATCH -MONDO:0018714 primary intralymphatic angioendothelioma skos:exactMatch Orphanet:458768 Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intralymphatic angioendothelioma LEXMATCH -MONDO:0018715 congenital hemangioma skos:exactMatch Orphanet:458775 Congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hemangioma LEXMATCH -MONDO:0018716 partially involuting congenital hemangioma skos:exactMatch Orphanet:458785 Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma LEXMATCH -MONDO:0018717 mixed cystic lymphatic malformation skos:exactMatch Orphanet:458792 Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed cystic lymphatic malformation LEXMATCH -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome skos:exactMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome LEXMATCH -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome skos:exactMatch Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-macrocephaly-hypertelorism syndrome LEXMATCH -MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal multiple congenital anomalies/dysmorphic syndrome LEXMATCH -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation skos:exactMatch Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability syndrome due to a dyrk1a point mutation LEXMATCH -MONDO:0018734 verrucous hemangioma skos:exactMatch Orphanet:464318 Verrucous hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verrucous hemangioma LEXMATCH -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome skos:exactMatch Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome LEXMATCH -MONDO:0018736 kaposiform lymphangiomatosis skos:exactMatch Orphanet:464329 Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposiform lymphangiomatosis LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps LEXMATCH -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:464343 Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catastrophic antiphospholipid syndrome LEXMATCH -MONDO:0018738 benign metanephric tumor skos:exactMatch Orphanet:464359 Benign metanephric tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign metanephric tumor LEXMATCH -MONDO:0018739 neonatal alloimmune neutropenia skos:exactMatch Orphanet:464370 Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal alloimmune neutropenia LEXMATCH -MONDO:0018740 drug-induced methemoglobinemia skos:exactMatch Orphanet:464453 Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym drug-induced methemoglobinemia LEXMATCH -MONDO:0018741 paracetamol poisoning skos:exactMatch Orphanet:464458 Paracetamol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracetamol poisoning LEXMATCH -MONDO:0018742 familial gastric type 1 neuroendocrine tumor skos:exactMatch Orphanet:464756 Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gastric type 1 neuroendocrine tumor LEXMATCH -MONDO:0018744 oligodendroglial tumor skos:exactMatch Orphanet:46484 Oligodendroglial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodendroglial tumor LEXMATCH -MONDO:0018746 mucous membrane pemphigoid skos:exactMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucous membrane pemphigoid LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired epidermolysis bullosa LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa acquisita LEXMATCH -MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired epidermolysis bullosa LEXMATCH -MONDO:0018748 linear IgA Dermatosis skos:exactMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear iga dermatosis LEXMATCH -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:exactMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome LEXMATCH -MONDO:0018751 hereditary otorhinolaryngologic disease skos:exactMatch Orphanet:466084 Genetic otorhinolaryngologic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic otorhinolaryngologic disease LEXMATCH -MONDO:0018752 exercise-induced malignant hyperthermia skos:exactMatch Orphanet:466650 Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exercise-induced malignant hyperthermia LEXMATCH -MONDO:0018754 cyanide poisoning skos:exactMatch Orphanet:466670 Cyanide poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyanide poisoning LEXMATCH -MONDO:0018755 scorpion envenomation skos:exactMatch Orphanet:466677 Scorpion envenomation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scorpion envenomation LEXMATCH -MONDO:0018756 euthyroid Graves orbitopathy skos:exactMatch Orphanet:466682 Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euthyroid graves orbitopathy LEXMATCH -MONDO:0018757 supratip dysplasia skos:exactMatch Orphanet:466695 Supratip dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supratip dysplasia LEXMATCH -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome skos:exactMatch Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome LEXMATCH -MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome LEXMATCH -MONDO:0018761 SMARCA4-deficient sarcoma of thorax skos:exactMatch Orphanet:466962 SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smarca4-deficient sarcoma of thorax LEXMATCH -MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:467 Non-acquired combined pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-acquired combined pituitary hormone deficiency LEXMATCH -MONDO:0018763 tubulinopathy-associated dysgyria skos:exactMatch Orphanet:467166 Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulinopathy-associated dysgyria LEXMATCH -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:exactMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic multifocal ulcerous stenosing enteritis LEXMATCH -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic enteropathy associated with slco2a1 gene LEXMATCH -MONDO:0018767 severe primary trimethylaminuria skos:exactMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe primary trimethylaminuria LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome LEXMATCH -MONDO:0018769 isosporiasis skos:exactMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis LEXMATCH -MONDO:0018770 Jeune syndrome skos:exactMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jeune syndrome LEXMATCH -MONDO:0018772 Joubert syndrome skos:exactMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome LEXMATCH -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome LEXMATCH -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome skos:exactMatch Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia-cardiomyopathy syndrome LEXMATCH -MONDO:0018776 demyelinating hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label demyelinating hereditary motor and sensory neuropathy LEXMATCH -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome skos:exactMatch Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome LEXMATCH -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:476123 Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate charcot-marie-tooth disease LEXMATCH -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized hypercontractile muscle stiffness syndrome LEXMATCH -MONDO:0018781 KID syndrome skos:exactMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kid syndrome LEXMATCH -MONDO:0018783 fibroblastic rheumatism skos:exactMatch Orphanet:477650 Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibroblastic rheumatism LEXMATCH -MONDO:0018784 pediatric multiple sclerosis skos:exactMatch Orphanet:477738 Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric multiple sclerosis LEXMATCH -MONDO:0018793 primary condylar hyperplasia skos:exactMatch Orphanet:477781 Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary condylar hyperplasia LEXMATCH -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:exactMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder LEXMATCH -MONDO:0018795 syndromic constitutional thrombocytopenia skos:exactMatch Orphanet:477794 Syndromic constitutional thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic constitutional thrombocytopenia LEXMATCH -MONDO:0018800 Kallmann syndrome skos:exactMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kallmann syndrome LEXMATCH -MONDO:0018801 congenital bilateral absence of vas deferens skos:exactMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral absence of vas deferens LEXMATCH -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis skos:exactMatch Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myo5b-related progressive familial intrahepatic cholestasis LEXMATCH -MONDO:0018805 bile duct cyst skos:exactMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital cystic dilatation of the biliary tract LEXMATCH -MONDO:0018805 bile duct cyst skos:exactMatch Orphanet:480501 Choledochal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choledochal cyst LEXMATCH -MONDO:0018806 primary intrahepatic lithiasis skos:exactMatch Orphanet:480506 Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intrahepatic lithiasis LEXMATCH -MONDO:0018807 idiopathic ductopenia skos:exactMatch Orphanet:480512 Idiopathic ductopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic ductopenia LEXMATCH -MONDO:0018808 Caroli syndrome skos:exactMatch Orphanet:480520 Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome LEXMATCH -MONDO:0018809 idiopathic peliosis hepatis skos:exactMatch Orphanet:480524 Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peliosis hepatis LEXMATCH -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome skos:exactMatch Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal hydranencephaly-diaphragmatic hernia syndrome LEXMATCH -MONDO:0018811 congenital portosystemic shunt skos:exactMatch Orphanet:480531 Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital portosystemic shunt LEXMATCH -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis skos:exactMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label msh3-related attenuated familial adenomatous polyposis LEXMATCH -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement skos:exactMatch Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement LEXMATCH -MONDO:0018814 non-SCID combined immunodeficiency skos:exactMatch Orphanet:480549 Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-scid LEXMATCH -MONDO:0018814 non-SCID combined immunodeficiency skos:exactMatch Orphanet:480549 Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-severe combined immunodeficiency LEXMATCH -MONDO:0018815 aneurysmal bone cyst skos:exactMatch Orphanet:480553 Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst LEXMATCH -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:exactMatch Orphanet:480556 Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated neonatal sclerosing cholangitis LEXMATCH -MONDO:0018818 facial diplegia with paresthesias skos:exactMatch Orphanet:480701 Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial diplegia with paresthesias LEXMATCH -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:exactMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome LEXMATCH -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability LEXMATCH -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome skos:exactMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome LEXMATCH -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome skos:exactMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome LEXMATCH -MONDO:0018824 pyoderma gangrenosum skos:exactMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum LEXMATCH -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy skos:exactMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycr2-related microcephaly-progressive leukoencephalopathy LEXMATCH -MONDO:0018826 Lewis-Sumner syndrome skos:exactMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lewis-sumner syndrome LEXMATCH -MONDO:0018827 familial chilblain lupus skos:exactMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial chilblain lupus LEXMATCH -MONDO:0018829 familial schizencephaly skos:exactMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial schizencephaly LEXMATCH -MONDO:0018830 Kimura disease skos:exactMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kimura disease LEXMATCH -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease skos:exactMatch Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label htra1-related autosomal dominant cerebral small vessel disease LEXMATCH -MONDO:0018835 nodular regenerative hyperplasia of the liver skos:exactMatch Orphanet:48372 Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular regenerative hyperplasia of the liver LEXMATCH -MONDO:0018837 postinfectious vasculitis skos:exactMatch Orphanet:48435 Postinfectious vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious vasculitis LEXMATCH -MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly LEXMATCH -MONDO:0018839 acquired schizencephaly skos:exactMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired schizencephaly LEXMATCH -MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch Orphanet:485426 Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hepatic fibrosis LEXMATCH -MONDO:0018841 congenital bile acid synthesis defect skos:exactMatch Orphanet:485631 Congenital bile acid synthesis defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bile acid synthesis defect LEXMATCH -MONDO:0018842 primary effusion lymphoma skos:exactMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary effusion lymphoma LEXMATCH -MONDO:0018843 embryonal carcinoma of the central nervous system skos:exactMatch Orphanet:48736 Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal carcinoma of the central nervous system LEXMATCH -MONDO:0018844 urachal cyst skos:exactMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal cyst LEXMATCH -MONDO:0018845 focal myositis skos:exactMatch Orphanet:48918 Focal myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal myositis LEXMATCH -MONDO:0018846 penile agenesis skos:exactMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label penile agenesis LEXMATCH -MONDO:0018847 omphalomesenteric cyst skos:exactMatch Orphanet:490 Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalomesenteric cyst LEXMATCH -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related retroperitoneal fibrosis LEXMATCH -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta LEXMATCH -MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch Orphanet:492 Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proliferating trichilemmal cyst LEXMATCH -MONDO:0018851 familial keratoacanthoma skos:exactMatch Orphanet:493 Familial keratoacanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial keratoacanthoma LEXMATCH -MONDO:0018852 achromatopsia skos:exactMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia LEXMATCH -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transgrediens et progrediens palmoplantar keratoderma LEXMATCH -MONDO:0018854 acquired purpura fulminans skos:exactMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired purpura fulminans LEXMATCH -MONDO:0018855 keratosis pilaris atrophicans skos:exactMatch Orphanet:498 Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis pilaris atrophicans LEXMATCH -MONDO:0018856 lichen amyloidosis skos:exactMatch Orphanet:49804 Lichen amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen amyloidosis LEXMATCH -MONDO:0018857 creeping myiasis skos:exactMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label creeping myiasis LEXMATCH -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:exactMatch Orphanet:505 Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label graham little-piccardi-lassueur syndrome LEXMATCH -MONDO:0018860 microlissencephaly-micromelia syndrome skos:exactMatch Orphanet:50810 Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly-micromelia syndrome LEXMATCH -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies skos:exactMatch Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zellweger-like syndrome without peroxisomal anomalies LEXMATCH -MONDO:0018864 Kikuchi-Fujimoto disease skos:exactMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kikuchi-fujimoto disease LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label striate palmoplantar keratoderma LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy with basal ganglia calcification LEXMATCH -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid LEXMATCH -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy LEXMATCH -MONDO:0018869 cobblestone lissencephaly skos:exactMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cobblestone lissencephaly LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:exactMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infantile arterial calcification LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:exactMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic obliterative arteriopathy LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:exactMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile arteriosclerosis LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:exactMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym occlusive infantile arteriopathy LEXMATCH -MONDO:0018870 arterial calcification of infancy skos:exactMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized arterial calcification of infancy LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ammol LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH -MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia LEXMATCH -MONDO:0018873 anterior cutaneous nerve entrapment syndrome skos:exactMatch Orphanet:51890 Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior cutaneous nerve entrapment syndrome LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:exactMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia LEXMATCH -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome LEXMATCH -MONDO:0018876 mantle cell lymphoma skos:exactMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma LEXMATCH -MONDO:0018877 retinitis punctata albescens skos:exactMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis punctata albescens LEXMATCH -MONDO:0018878 branchiootic syndrome skos:exactMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome LEXMATCH -MONDO:0018879 lichen planopilaris skos:exactMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris LEXMATCH -MONDO:0018881 myelodysplastic syndrome skos:exactMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelodysplastic syndrome LEXMATCH -MONDO:0018882 vasculitis skos:exactMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasculitis LEXMATCH -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym berardinelli-seip congenital lipodystrophy LEXMATCH -MONDO:0018884 Roch-Leri mesosomatous lipomatosis skos:exactMatch Orphanet:529 Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label roch-leri mesosomatous lipomatosis LEXMATCH -MONDO:0018885 orbital leiomyoma skos:exactMatch Orphanet:52994 Orbital leiomyoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital leiomyoma LEXMATCH -MONDO:0018889 hyaline body myopathy skos:exactMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myosin storage myopathy LEXMATCH -MONDO:0018889 hyaline body myopathy skos:exactMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyaline body myopathy LEXMATCH -MONDO:0018890 Lyell syndrome skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lyell syndrome LEXMATCH -MONDO:0018891 familial tumoral calcinosis skos:exactMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial tumoral calcinosis LEXMATCH -MONDO:0018892 Wyburn-Mason syndrome skos:exactMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wyburn-mason syndrome LEXMATCH -MONDO:0018893 Cobb syndrome skos:exactMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneomeningospinal angiomatosis LEXMATCH -MONDO:0018893 Cobb syndrome skos:exactMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sams 1-31 LEXMATCH -MONDO:0018893 Cobb syndrome skos:exactMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal arteriovenous metameric syndrome LEXMATCH -MONDO:0018893 Cobb syndrome skos:exactMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cobb syndrome LEXMATCH -MONDO:0018894 distal hereditary motor neuropathy skos:exactMatch Orphanet:53739 Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy LEXMATCH -MONDO:0018895 Plummer-Vinson syndrome skos:exactMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plummer-vinson syndrome LEXMATCH -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic thrombocytopenic purpura LEXMATCH -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:exactMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous cd30+ t-cell lymphoproliferative disease LEXMATCH -MONDO:0018898 primary cutaneous lymphoma skos:exactMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous lymphoma LEXMATCH -MONDO:0018899 posterior cortical atrophy skos:exactMatch Orphanet:54247 Posterior cortical atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior cortical atrophy LEXMATCH -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome skos:exactMatch Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticosteroid-sensitive aseptic abscess syndrome LEXMATCH -MONDO:0018901 left ventricular noncompaction skos:exactMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction LEXMATCH -MONDO:0018902 hepatocellular adenoma skos:exactMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatocellular adenoma LEXMATCH -MONDO:0018903 sarcocystosis skos:exactMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcocystosis LEXMATCH -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary membranoproliferative glomerulonephritis LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:exactMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma LEXMATCH -MONDO:0018906 follicular lymphoma skos:exactMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma LEXMATCH -MONDO:0018907 craniopharyngioma skos:exactMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniopharyngioma LEXMATCH -MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hodgkin lymphoma LEXMATCH -MONDO:0018910 oculocutaneous albinism skos:exactMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maturity-onset diabetes of the young LEXMATCH -MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maturity-onset diabetes of the young LEXMATCH -MONDO:0018913 malakoplakia skos:exactMatch Orphanet:556 Malakoplakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malakoplakia LEXMATCH -MONDO:0018914 hypotrichosis simplex skos:exactMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis simplex LEXMATCH -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:exactMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of gallbladder and extrahepatic biliary tract LEXMATCH -MONDO:0018919 McCune-Albright syndrome skos:exactMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mccune-albright syndrome LEXMATCH -MONDO:0018920 peripartum cardiomyopathy skos:exactMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy LEXMATCH -MONDO:0018921 Meckel syndrome skos:exactMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel syndrome LEXMATCH -MONDO:0018922 cold agglutinin disease skos:exactMatch Orphanet:56425 Cold agglutinin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cold agglutinin disease LEXMATCH -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome LEXMATCH -MONDO:0018924 microphthalmia, Lenz type skos:exactMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia, lenz type LEXMATCH -MONDO:0018925 familial or sporadic hemiplegic migraine skos:exactMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial or sporadic hemiplegic migraine LEXMATCH -MONDO:0018926 human prion disease skos:exactMatch Orphanet:56970 Human prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label human prion disease LEXMATCH -MONDO:0018927 SUNCT syndrome skos:exactMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunct syndrome LEXMATCH -MONDO:0018929 medial condensing osteitis of the clavicle skos:exactMatch Orphanet:57196 Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medial condensing osteitis of the clavicle LEXMATCH -MONDO:0018930 monosomy 21 skos:exactMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 21q- syndrome LEXMATCH -MONDO:0018930 monosomy 21 skos:exactMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial 21q monosomy LEXMATCH -MONDO:0018930 monosomy 21 skos:exactMatch Orphanet:574 21q deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 21q deletion syndrome LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml 3 alpha/beta LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml iii alpha/beta LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-hurler polydystrophy LEXMATCH -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucolipidosis type iii LEXMATCH -MONDO:0018932 cirrhotic cardiomyopathy skos:exactMatch Orphanet:57777 Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhotic cardiomyopathy LEXMATCH -MONDO:0018933 Mazabraud syndrome skos:exactMatch Orphanet:57782 Mazabraud syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mazabraud syndrome LEXMATCH -MONDO:0018935 hairy cell leukemia skos:exactMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hcl-c LEXMATCH -MONDO:0018935 hairy cell leukemia skos:exactMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukemic reticuloendotheliosis LEXMATCH -MONDO:0018936 osteoblastoma skos:exactMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoblastoma LEXMATCH -MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 3 LEXMATCH -MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4 LEXMATCH -MONDO:0018939 muscle-eye-brain disease skos:exactMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscle-eye-brain disease LEXMATCH -MONDO:0018940 congenital myasthenic syndrome skos:exactMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome LEXMATCH -MONDO:0018941 furuncular myiasis skos:exactMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis LEXMATCH -MONDO:0018942 macrophagic myofasciitis skos:exactMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrophagic myofasciitis LEXMATCH -MONDO:0018943 myofibrillar myopathy skos:exactMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myofibrillar myopathy LEXMATCH -MONDO:0018944 gestational trophoblastic neoplasm skos:exactMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational trophoblastic neoplasm LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mcleod neuroacanthocytosis syndrome LEXMATCH -MONDO:0018946 rhombencephalosynapsis skos:exactMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhombencephalosynapsis LEXMATCH -MONDO:0018947 centronuclear myopathy skos:exactMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centronuclear myopathy LEXMATCH -MONDO:0018948 multiminicore myopathy skos:exactMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiminicore myopathy LEXMATCH -MONDO:0018949 distal myopathy skos:exactMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy LEXMATCH -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylcrotonyl-coa carboxylase deficiency LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:exactMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym matr3-related distal myopathy LEXMATCH -MONDO:0018951 distal myopathy with vocal cord weakness skos:exactMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with vocal cord weakness LEXMATCH -MONDO:0018952 argyria skos:exactMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argyria LEXMATCH -MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catlin marks LEXMATCH -MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fenestrae parietales symmetricae LEXMATCH -MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna LEXMATCH -MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cranium bifidum LEXMATCH -MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symmetric parietal foramina LEXMATCH -MONDO:0018953 parietal foramina skos:exactMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enlarged parietal foramina LEXMATCH -MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeys-dietz syndrome LEXMATCH -MONDO:0018955 recurrent respiratory papillomatosis skos:exactMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent respiratory papillomatosis LEXMATCH -MONDO:0018956 idiopathic bronchiectasis skos:exactMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic bronchiectasis LEXMATCH -MONDO:0018957 pudendal neuralgia skos:exactMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pudendal neuralgia LEXMATCH -MONDO:0018958 nemaline myopathy skos:exactMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy LEXMATCH -MONDO:0018959 potassium-aggravated myotonia skos:exactMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label potassium-aggravated myotonia LEXMATCH -MONDO:0018960 congenital primary megaureter skos:exactMatch Orphanet:617 Congenital primary megaureter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter LEXMATCH -MONDO:0018961 familial melanoma skos:exactMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial melanoma LEXMATCH -MONDO:0018963 hereditary methemoglobinemia skos:exactMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary methemoglobinemia LEXMATCH -MONDO:0018964 homocystinuria without methylmalonic aciduria skos:exactMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homocystinuria without methylmalonic aciduria LEXMATCH -MONDO:0018965 Alport syndrome skos:exactMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alport syndrome LEXMATCH -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia skos:exactMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia LEXMATCH -MONDO:0018968 iniencephaly skos:exactMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly LEXMATCH -MONDO:0018969 craniorachischisis skos:exactMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis LEXMATCH -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:exactMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym patterned dystrophy of the retinal pigment epithelium LEXMATCH -MONDO:0018974 paraneoplastic pemphigus skos:exactMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic pemphigus LEXMATCH -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis type 1 LEXMATCH -MONDO:0018976 schisis association skos:exactMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schisis association LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anti-mag neuropathy LEXMATCH -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:exactMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuropathy associated with monoclonal igm antibodies to myelin-associated glycoprotein LEXMATCH -MONDO:0018978 IgG4-related mediastinitis skos:exactMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related mediastinitis LEXMATCH -MONDO:0018979 multifocal motor neuropathy skos:exactMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal motor neuropathy LEXMATCH -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type skos:exactMatch Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, kennedy-teebi type LEXMATCH -MONDO:0018981 benign idiopathic neonatal seizures skos:exactMatch Orphanet:64545 Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign idiopathic neonatal seizures LEXMATCH -MONDO:0018982 Niemann-Pick disease type C skos:exactMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c LEXMATCH -MONDO:0018983 Tolosa-Hunt syndrome skos:exactMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tolosa-hunt syndrome LEXMATCH -MONDO:0018984 Oroya fever skos:exactMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oroya fever LEXMATCH -MONDO:0018987 granulomatous mastitis skos:exactMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous mastitis LEXMATCH -MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocorneal endothelial syndrome LEXMATCH -MONDO:0018991 hepatoportal sclerosis skos:exactMatch Orphanet:64743 Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoportal sclerosis LEXMATCH -MONDO:0018992 IgG4-related thyroid disease skos:exactMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related thyroid disease LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant axonal charcot-marie-tooth disease LEXMATCH -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 2 LEXMATCH -MONDO:0018994 Charcot-Marie-Tooth disease type X skos:exactMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hereditary motor and sensory neuropathy LEXMATCH -MONDO:0018995 Charcot-Marie-Tooth disease type 4 skos:exactMatch Orphanet:64749 Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 2 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scan 2 LEXMATCH -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:exactMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 2 LEXMATCH -MONDO:0018997 Noonan syndrome skos:exactMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome LEXMATCH -MONDO:0018998 Leber congenital amaurosis skos:exactMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis LEXMATCH -MONDO:0018999 LCAT deficiency skos:exactMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lcat deficiency LEXMATCH -MONDO:0019000 perineural cyst skos:exactMatch Orphanet:65250 Perineural cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst LEXMATCH -MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lhermitte-duclos disease LEXMATCH -MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2 LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal embryonic tumor LEXMATCH -MONDO:0019004 kidney Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nephroblastoma LEXMATCH -MONDO:0019005 nephronophthisis skos:exactMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephronophthisis LEXMATCH -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:exactMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial idiopathic steroid-resistant nephrotic syndrome LEXMATCH -MONDO:0019007 vaginal atresia skos:exactMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal atresia LEXMATCH -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis LEXMATCH -MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia LEXMATCH -MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated hyperinsulinism LEXMATCH -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1 LEXMATCH -MONDO:0019012 Carpenter syndrome skos:exactMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpenter syndrome LEXMATCH -MONDO:0019013 non-histaminic angioedema skos:exactMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-histaminic angioedema LEXMATCH -MONDO:0019015 omphalocele skos:exactMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:exactMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited chronic progressive external ophthalmoplegia LEXMATCH -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:exactMatch Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited cpeo LEXMATCH -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome skos:exactMatch Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short fifth metacarpals-insulin resistance syndrome LEXMATCH -MONDO:0019018 Tako-tsubo cardiomyopathy skos:exactMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tako-tsubo cardiomyopathy LEXMATCH -MONDO:0019019 osteogenesis imperfecta skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta LEXMATCH -MONDO:0019020 PANDAS skos:exactMatch Orphanet:66624 PANDAS semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pandas LEXMATCH -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome skos:exactMatch Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sensorineural hearing loss-early graying-essential tremor syndrome LEXMATCH -MONDO:0019023 cutaneous mastocytosis skos:exactMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytosis LEXMATCH -MONDO:0019024 mast cell sarcoma skos:exactMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell sarcoma LEXMATCH -MONDO:0019025 extracutaneous mastocytoma skos:exactMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extracutaneous mastocytoma LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile malignant osteopetrosis LEXMATCH -MONDO:0019026 autosomal recessive osteopetrosis skos:exactMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive malignant osteopetrosis LEXMATCH -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:exactMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amoebiasis due to entamoeba histolytica LEXMATCH -MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch Orphanet:67039 Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental odontomaxillary dysplasia LEXMATCH -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia skos:exactMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia with congenital dyserythropoietic anemia LEXMATCH -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:exactMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability with isolated growth hormone deficiency LEXMATCH -MONDO:0019033 primary cutis verticis gyrata skos:exactMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutis verticis gyrata LEXMATCH -MONDO:0019034 accessory pancreas skos:exactMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label accessory pancreas LEXMATCH -MONDO:0019035 pancreatoblastoma skos:exactMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatoblastoma LEXMATCH -MONDO:0019036 amoebiasis due to free-living amoebae skos:exactMatch Orphanet:68 Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amoebiasis due to free-living amoebae LEXMATCH -MONDO:0019037 progressive supranuclear palsy skos:exactMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy LEXMATCH -MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome LEXMATCH -MONDO:0019046 leukodystrophy skos:exactMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukodystrophy LEXMATCH -MONDO:0019053 peroxisomal disease skos:exactMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal disease LEXMATCH -MONDO:0019054 congenital limb malformation skos:exactMatch Orphanet:68378 Congenital limb malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital limb malformation LEXMATCH -MONDO:0019056 neuromuscular disease skos:exactMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromuscular disease LEXMATCH -MONDO:0019064 hereditary spastic paraplegia skos:exactMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia LEXMATCH -MONDO:0019065 amyloidosis skos:exactMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis LEXMATCH -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome skos:exactMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-sensitive nephrotic syndrome LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alloimmune neonatal renal disease LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetomaternal alloimmunization with antenatal glomerulopathies LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal glomerulopathy due to neprilysin alloimmunization LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal membranous glomerulopathy with maternal nep deficiency LEXMATCH -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization skos:exactMatch Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency LEXMATCH -MONDO:0019071 pure hair and nail ectodermal dysplasia skos:exactMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure hair and nail ectodermal dysplasia LEXMATCH -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome LEXMATCH -MONDO:0019074 bilateral acute depigmentation of the iris skos:exactMatch Orphanet:69736 Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral acute depigmentation of the iris LEXMATCH -MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bosley-salih-alorainy syndrome LEXMATCH -MONDO:0019076 circumscribed palmoplantar hypokeratosis skos:exactMatch Orphanet:69744 Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label circumscribed palmoplantar hypokeratosis LEXMATCH -MONDO:0019077 warty dyskeratoma skos:exactMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warty dyskeratoma LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ritscher-schinzel syndrome LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3c syndrome LEXMATCH -MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ritscher-schinzel syndrome LEXMATCH -MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal spinal muscular atrophy LEXMATCH -MONDO:0019080 alopecia totalis skos:exactMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia totalis LEXMATCH -MONDO:0019082 bullous pemphigoid skos:exactMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid LEXMATCH -MONDO:0019084 radiation proctitis skos:exactMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis LEXMATCH -MONDO:0019085 vernal keratoconjunctivitis skos:exactMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vernal keratoconjunctivitis LEXMATCH -MONDO:0019086 carcinoma of esophagus skos:exactMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of esophagus LEXMATCH -MONDO:0019087 cholangiocarcinoma skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangiocarcinoma LEXMATCH -MONDO:0019088 post-transplant lymphoproliferative disease skos:exactMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-transplant lymphoproliferative disease LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia LEXMATCH -MONDO:0019092 infantile apnea skos:exactMatch Orphanet:70590 Infantile apnea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile apnea LEXMATCH -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency skos:exactMatch Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to selective anti-polysaccharide antibody deficiency LEXMATCH -MONDO:0019094 congenital Epstein-Barr virus infection skos:exactMatch Orphanet:70596 Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital epstein-barr virus infection LEXMATCH -MONDO:0019095 plague skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague LEXMATCH -MONDO:0019098 autoimmune thrombocytopenia skos:exactMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune thrombocytopenia LEXMATCH -MONDO:0019100 neuromyelitis optica skos:exactMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym devic disease LEXMATCH -MONDO:0019101 retinal capillary malformation skos:exactMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal capillary malformation LEXMATCH -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome skos:exactMatch Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome LEXMATCH -MONDO:0019104 Sandifer syndrome skos:exactMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandifer syndrome LEXMATCH -MONDO:0019105 renal nutcracker syndrome skos:exactMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal nutcracker syndrome LEXMATCH -MONDO:0019107 Rh deficiency syndrome skos:exactMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rh deficiency syndrome LEXMATCH -MONDO:0019108 silent sinus syndrome skos:exactMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silent sinus syndrome LEXMATCH -MONDO:0019109 CANOMAD syndrome skos:exactMatch Orphanet:71279 CANOMAD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label canomad syndrome LEXMATCH -MONDO:0019111 familial thrombocytosis skos:exactMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thrombocytosis LEXMATCH -MONDO:0019112 cancer-associated retinopathy skos:exactMatch Orphanet:71505 Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cancer-associated retinopathy LEXMATCH -MONDO:0019113 benign paroxysmal torticollis of infancy skos:exactMatch Orphanet:71518 Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign paroxysmal torticollis of infancy LEXMATCH -MONDO:0019114 psychogenic movement disorders skos:exactMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psychogenic movement disorders LEXMATCH -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to melanocortin 4 receptor deficiency LEXMATCH -MONDO:0019118 inherited retinal dystrophy skos:exactMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy LEXMATCH -MONDO:0019119 muscular channelopathy skos:exactMatch Orphanet:71864 Muscular channelopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular channelopathy LEXMATCH -MONDO:0019120 pili bifurcati skos:exactMatch Orphanet:720 Pili bifurcati semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili bifurcati LEXMATCH -MONDO:0019121 pneumocystosis skos:exactMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis LEXMATCH -MONDO:0019122 idiopathic acute eosinophilic pneumonia skos:exactMatch Orphanet:724 Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic acute eosinophilic pneumonia LEXMATCH -MONDO:0019123 continuous spikes and waves during sleep skos:exactMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label continuous spikes and waves during sleep LEXMATCH -MONDO:0019124 microscopic polyangiitis skos:exactMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis LEXMATCH -MONDO:0019125 relapsing polychondritis skos:exactMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis LEXMATCH -MONDO:0019127 polymyositis skos:exactMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis LEXMATCH -MONDO:0019128 mullerian aplasia skos:exactMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia of the müllerian ducts LEXMATCH -MONDO:0019128 mullerian aplasia skos:exactMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym müllerian duct failure LEXMATCH -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome skos:exactMatch Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-osteopenia-ectodermal defect syndrome LEXMATCH -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome skos:exactMatch Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossification anomalies-psychomotor developmental delay syndrome LEXMATCH -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome skos:exactMatch Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy-dandy-walker malformation-cataracts syndrome LEXMATCH -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome skos:exactMatch Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome LEXMATCH -MONDO:0019134 central neurocytoma skos:exactMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central neurocytoma LEXMATCH -MONDO:0019136 Zygomycosis skos:exactMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis LEXMATCH -MONDO:0019137 non-24-hour sleep-wake syndrome skos:exactMatch Orphanet:73267 Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-24-hour sleep-wake syndrome LEXMATCH -MONDO:0019140 acute ackee fruit intoxication skos:exactMatch Orphanet:73423 Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute ackee fruit intoxication LEXMATCH -MONDO:0019141 porokeratosis of Mibelli skos:exactMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis of mibelli LEXMATCH -MONDO:0019143 angiostrongyliasis skos:exactMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiostrongyliasis LEXMATCH -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:exactMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein s deficiency LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein c deficiency LEXMATCH -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to pc deficiency LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infection caused by bcg or atypical mycobacteria LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to atypical mycobacteria LEXMATCH -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial infections LEXMATCH -MONDO:0019147 myiasis skos:exactMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis LEXMATCH -MONDO:0019148 Wolman disease skos:exactMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolman disease LEXMATCH -MONDO:0019149 cholesteryl ester storage disease skos:exactMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteryl ester storage disease LEXMATCH -MONDO:0019151 oligocone trichromacy skos:exactMatch Orphanet:75378 Oligocone trichromacy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligocone trichromacy LEXMATCH -MONDO:0019152 Oguchi disease skos:exactMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oguchi disease LEXMATCH -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome skos:exactMatch Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain malformation-congenital heart disease-postaxial polydactyly syndrome LEXMATCH -MONDO:0019154 androgen insensitivity syndrome skos:exactMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label androgen insensitivity syndrome LEXMATCH -MONDO:0019155 Leydig cell hypoplasia skos:exactMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia LEXMATCH -MONDO:0019156 angioosteohypotrophic syndrome skos:exactMatch Orphanet:75508 Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioosteohypotrophic syndrome LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary acquired sideroblastic anemia LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refractory anemia with ringed sideroblasts LEXMATCH -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts skos:exactMatch Orphanet:75564 Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acquired idiopathic sideroblastic anemia LEXMATCH -MONDO:0019158 tropical endomyocardial fibrosis skos:exactMatch Orphanet:75565 Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical endomyocardial fibrosis LEXMATCH -MONDO:0019159 Loeffler endocarditis skos:exactMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeffler endocarditis LEXMATCH -MONDO:0019160 primary progressive freezing gait skos:exactMatch Orphanet:75567 Primary progressive freezing gait semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive freezing gait LEXMATCH -MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 1 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2 LEXMATCH -MONDO:0019164 6q terminal deletion syndrome skos:exactMatch Orphanet:75857 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6q terminal deletion syndrome LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sifrim-hitz-weiss syndrome LEXMATCH +MONDO:0014946 Sifrim-Hitz-Weiss syndrome skos:exactMatch Orphanet:653712 CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sifrim-hitz-weiss syndrome LEXMATCH +MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015179 obsolete intestinal disease due to vitamin absorption anomaly skos:exactMatch Orphanet:104004 Intestinal disease due to vitamin absorption anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015181 obsolete congenital intestinal disease due to an enzymatic defect skos:exactMatch Orphanet:104006 Congenital intestinal disease due to an enzymatic defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch Orphanet:658602 Transplant-related bronchiolitis obliterans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis obliterans syndrome LEXMATCH +MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015412 obsolete median facial cleft skos:exactMatch Orphanet:141234 Median facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015415 obsolete oblique facial cleft skos:exactMatch Orphanet:141253 Oblique facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015418 obsolete lateral facial cleft skos:exactMatch Orphanet:141269 Lateral facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015478 obsolete paramedian facial cleft skos:exactMatch Orphanet:155867 Paramedian facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015505 obsolete tracheal anomaly skos:exactMatch Orphanet:156252 Tracheal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015828 obsolete uterovaginal malformation skos:exactMatch Orphanet:180062 Uterovaginal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch Orphanet:181402 Syndrome with hypoparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015983 obsolete rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016224 obsolete autosomal dominant proximal spinal muscular atrophy skos:exactMatch Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016592 obsolete non-hereditary degenerative ataxia skos:exactMatch Orphanet:247239 Non-hereditary degenerative ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016715 ependymoblastoma skos:exactMatch Orphanet:656417 Embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016804 obsolete exercise intolerance with lactic acidosis skos:exactMatch Orphanet:254843 Exercise intolerance with lactic acidosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization skos:exactMatch Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017428 obsolete congenital deformities of fingers skos:exactMatch Orphanet:294947 Congenital deformities of fingers semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Joint formation defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017430 obsolete non-syndromic congenital joint dislocations skos:exactMatch Orphanet:294951 Congenital joint dislocations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non syndromic limb overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017676 obsolete marginal papular palmoplantar keratoderma skos:exactMatch Orphanet:307995 Marginal papular palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:exactMatch Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Immunodeficiency due to absence of thymus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018700 obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy skos:exactMatch Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 Vascular tumor with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018745 obsolete superficial pemphigus skos:exactMatch Orphanet:46485 Superficial pemphigus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018782 obsolete type 1 interferonopathy skos:exactMatch Orphanet:477647 Type 1 interferonopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Vascular anomaly or angioma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0019165 central precocious puberty skos:exactMatch Orphanet:650063 Rare central precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropin-dependant precocious puberty LEXMATCH -MONDO:0019167 immunoglobulin A vasculitis skos:exactMatch Orphanet:761 Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin a vasculitis LEXMATCH -MONDO:0019168 pyomyositis skos:exactMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyomyositis LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase deficiency LEXMATCH -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency LEXMATCH -MONDO:0019170 polyarteritis nodosa skos:exactMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa LEXMATCH -MONDO:0019171 familial long QT syndrome skos:exactMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward long qt syndrome LEXMATCH -MONDO:0019171 familial long QT syndrome skos:exactMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label romano-ward syndrome LEXMATCH -MONDO:0019171 familial long QT syndrome skos:exactMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial long qt syndrome LEXMATCH -MONDO:0019173 rabies skos:exactMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies LEXMATCH -MONDO:0019175 primary lymphedema skos:exactMatch Orphanet:77240 Primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary lymphedema LEXMATCH -MONDO:0019177 odontoleukodystrophy skos:exactMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoleukodystrophy LEXMATCH -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome skos:exactMatch Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome LEXMATCH -MONDO:0019179 monosomy 9q22.3 skos:exactMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 9q22.3 LEXMATCH -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hemorrhagic telangiectasia LEXMATCH -MONDO:0019181 non-syndromic X-linked intellectual disability skos:exactMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked non-syndromic intellectual disability LEXMATCH -MONDO:0019182 inherited obesity skos:exactMatch Orphanet:77828 Genetic obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic obesity LEXMATCH -MONDO:0019186 Q fever skos:exactMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever LEXMATCH -MONDO:0019187 Axenfeld-Rieger syndrome skos:exactMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld-rieger syndrome LEXMATCH -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome LEXMATCH -MONDO:0019190 juvenile polyposis of infancy skos:exactMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polyposis of infancy LEXMATCH -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related dacryoadenitis and sialadenitis LEXMATCH -MONDO:0019192 AKT2-related familial partial lipodystrophy skos:exactMatch Orphanet:79085 AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label akt2-related familial partial lipodystrophy LEXMATCH -MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired generalized lipodystrophy LEXMATCH -MONDO:0019194 localized lipodystrophy skos:exactMatch Orphanet:79088 Localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lipodystrophy LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome LEXMATCH -MONDO:0019196 Foix-Alajouanine syndrome skos:exactMatch Orphanet:79093 Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foix-alajouanine syndrome LEXMATCH -MONDO:0019197 folinic acid-responsive seizures skos:exactMatch Orphanet:79097 Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label folinic acid-responsive seizures LEXMATCH -MONDO:0019198 sympathetic ophthalmia skos:exactMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sympathetic ophthalmia LEXMATCH -MONDO:0019199 interstitial granulomatous dermatitis with arthritis skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial granulomatous dermatitis with arthritis LEXMATCH -MONDO:0019200 retinitis pigmentosa skos:exactMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa LEXMATCH -MONDO:0019201 thyrotoxic periodic paralysis skos:exactMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxic periodic paralysis LEXMATCH -MONDO:0019202 myxofibrosarcoma skos:exactMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxofibrosarcoma LEXMATCH -MONDO:0019203 acute interstitial pneumonia skos:exactMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute interstitial pneumonia LEXMATCH -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:exactMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory bronchiolitis-interstitial lung disease syndrome LEXMATCH -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome skos:exactMatch Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodysplasia-amelogenesis imperfecta syndrome LEXMATCH -MONDO:0019206 sparse hair-short stature-skin anomalies syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sparse hair-short stature-skin anomalies syndrome LEXMATCH -MONDO:0019207 DEND syndrome skos:exactMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dend syndrome LEXMATCH -MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bickerstaff brainstem encephalitis LEXMATCH -MONDO:0019209 Japanese encephalitis skos:exactMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis LEXMATCH -MONDO:0019210 cutaneous neuroendocrine carcinoma skos:exactMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous neuroendocrine carcinoma LEXMATCH -MONDO:0019211 isolated congenital anonychia skos:exactMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital anonychia LEXMATCH -MONDO:0019212 disseminated superficial actinic porokeratosis skos:exactMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated superficial actinic porokeratosis LEXMATCH -MONDO:0019215 classic organic aciduria skos:exactMatch Orphanet:79163 Classic organic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic organic aciduria LEXMATCH -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:exactMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cytosolic methyl group transfer or sulfur amino acid metabolism disorder LEXMATCH -MONDO:0019225 disorder of gluconeogenesis skos:exactMatch Orphanet:79177 Gluconeogenesis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gluconeogenesis disorder LEXMATCH -MONDO:0019226 glucose transport disorder skos:exactMatch Orphanet:79178 Glucose transport disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucose transport disorder LEXMATCH -MONDO:0019228 inborn disorder of histidine metabolism skos:exactMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of histidine metabolism LEXMATCH -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder LEXMATCH -MONDO:0019240 sterol biosynthesis disorder skos:exactMatch Orphanet:79195 Sterol biosynthesis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterol biosynthesis disorder LEXMATCH -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:exactMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of branched-chain amino acid metabolism LEXMATCH -MONDO:0019245 lysosomal lipid storage disorder skos:exactMatch Orphanet:79204 Lipid storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lipid storage disease LEXMATCH -MONDO:0019248 mucolipidosis skos:exactMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis LEXMATCH -MONDO:0019249 mucopolysaccharidosis skos:exactMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis LEXMATCH -MONDO:0019251 oligosaccharidosis skos:exactMatch Orphanet:79215 Oligosaccharidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligosaccharidosis LEXMATCH -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency skos:exactMatch Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disease involving other neurotransmitter deficiency LEXMATCH -MONDO:0019255 sphingolipidosis skos:exactMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sphingolipidosis LEXMATCH -MONDO:0019256 sterol metabolism disorder skos:exactMatch Orphanet:79226 Sterol metabolism disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterol metabolism disorder LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:exactMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile hemochromatosis LEXMATCH -MONDO:0019257 hemochromatosis type 2 skos:exactMatch Orphanet:79230 HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemochromatosis type 2 LEXMATCH -MONDO:0019258 mild phenylketonuria skos:exactMatch Orphanet:79253 Mild phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild phenylketonuria LEXMATCH -MONDO:0019259 classic phenylketonuria skos:exactMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic phenylketonuria LEXMATCH -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0019263 autosomal erythropoietic protoporphyria skos:exactMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal erythropoietic protoporphyria LEXMATCH -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 3 LEXMATCH -MONDO:0019265 diazoxide-resistant focal hyperinsulinism skos:exactMatch Orphanet:79298 Diazoxide-resistant focal hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism LEXMATCH -MONDO:0019266 SAPHO syndrome skos:exactMatch Orphanet:793 SAPHO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sapho syndrome LEXMATCH -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- skos:exactMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-unresponsive methylmalonic acidemia type mut- LEXMATCH -MONDO:0019268 epidermal disease skos:exactMatch Orphanet:79353 Epidermal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermal disease LEXMATCH -MONDO:0019269 ichthyosis skos:exactMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis LEXMATCH -MONDO:0019270 erythrokeratoderma skos:exactMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratoderma LEXMATCH -MONDO:0019272 hereditary palmoplantar keratoderma skos:exactMatch Orphanet:79357 Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary palmoplantar keratoderma LEXMATCH -MONDO:0019276 inherited epidermolysis bullosa skos:exactMatch Orphanet:79361 Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited epidermolysis bullosa LEXMATCH -MONDO:0019278 hair anomaly skos:exactMatch Orphanet:79363 Hair anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hair anomaly LEXMATCH -MONDO:0019283 nail anomaly skos:exactMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail anomaly LEXMATCH -MONDO:0019287 ectodermal dysplasia syndrome skos:exactMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia syndrome LEXMATCH -MONDO:0019288 skin pigmentation disorder skos:exactMatch Orphanet:79374 Pigmentation anomaly of the skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentation anomaly of the skin LEXMATCH -MONDO:0019289 hyperpigmentation of the skin skos:exactMatch Orphanet:79375 Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperpigmentation of the skin LEXMATCH -MONDO:0019290 hypopigmentation of the skin skos:exactMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopigmentation of the skin LEXMATCH -MONDO:0019293 skin vascular disease skos:exactMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin vascular disease LEXMATCH -MONDO:0019294 mixed dermis disorder skos:exactMatch Orphanet:79380 Mixed dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed dermis disorder LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrodermic ichthyosis LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-bullous congenital ichthyosiform erythroderma LEXMATCH -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch Orphanet:79394 Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ichthyosiform erythroderma LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized atrophic benign epidermolysis bullosa LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized junctional epidermolysis bullosa, non-herlitz type LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa generalisata mitis LEXMATCH -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type skos:exactMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa, disentis type LEXMATCH -MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa inversa LEXMATCH -MONDO:0019309 late-onset junctional epidermolysis bullosa skos:exactMatch Orphanet:79406 Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset junctional epidermolysis bullosa LEXMATCH -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa skos:exactMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive dystrophic epidermolysis bullosa inversa LEXMATCH -MONDO:0019311 wooly hair nevus skos:exactMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair nevus LEXMATCH -MONDO:0019311 wooly hair nevus skos:exactMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wooly hair nevus LEXMATCH -MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hermansky-pudlak syndrome LEXMATCH -MONDO:0019314 cutaneous mastocytoma skos:exactMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytoma LEXMATCH -MONDO:0019315 diffuse cutaneous mastocytosis skos:exactMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse cutaneous mastocytosis LEXMATCH -MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maculopapular cutaneous mastocytosis LEXMATCH -MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:exactMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory linear verrucous epidermal nevus LEXMATCH -MONDO:0019319 verrucous nevus skos:exactMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verrucous nevus LEXMATCH -MONDO:0019320 acanthokeratolytic verrucous nevus skos:exactMatch Orphanet:79468 Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthokeratolytic verrucous nevus LEXMATCH -MONDO:0019321 atypical Werner syndrome skos:exactMatch Orphanet:79474 Atypical Werner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical werner syndrome LEXMATCH -MONDO:0019322 pemphigus vegetans skos:exactMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans LEXMATCH -MONDO:0019323 pemphigus erythematosus skos:exactMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus LEXMATCH -MONDO:0019324 pemphigus foliaceus skos:exactMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus LEXMATCH -MONDO:0019325 phakomatosis cesioflammea skos:exactMatch Orphanet:79483 Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis cesioflammea LEXMATCH -MONDO:0019326 phakomatosis cesiomarmorata skos:exactMatch Orphanet:79484 Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis cesiomarmorata LEXMATCH -MONDO:0019327 phakomatosis spilorosea skos:exactMatch Orphanet:79485 Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis spilorosea LEXMATCH -MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocystic lymphatic malformation LEXMATCH -MONDO:0019329 microcystic lymphatic malformation skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcystic lymphatic malformation LEXMATCH -MONDO:0019330 pili gemini skos:exactMatch Orphanet:79492 Pili gemini semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili gemini LEXMATCH -MONDO:0019332 punctate palmoplantar keratoderma type 1 skos:exactMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma type 1 LEXMATCH -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency skos:exactMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyperinsulinism due to sur1 deficiency LEXMATCH -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency skos:exactMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyperinsulinism due to kir6.2 deficiency LEXMATCH -MONDO:0019335 mild hyperphenylalaninemia skos:exactMatch Orphanet:79651 Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hyperphenylalaninemia LEXMATCH -MONDO:0019336 Gardner syndrome skos:exactMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gardner syndrome LEXMATCH -MONDO:0019337 autoimmune bullous skin disease skos:exactMatch Orphanet:79669 Autoimmune bullous skin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune bullous skin disease LEXMATCH -MONDO:0019338 sarcoidosis skos:exactMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis LEXMATCH -MONDO:0019339 47,XYY syndrome skos:exactMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 47,xyy syndrome LEXMATCH -MONDO:0019340 scleroderma skos:exactMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleroderma LEXMATCH -MONDO:0019342 Seckel syndrome skos:exactMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seckel syndrome LEXMATCH -MONDO:0019344 antisynthetase syndrome skos:exactMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antisynthetase syndrome LEXMATCH -MONDO:0019345 shigellosis skos:exactMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis LEXMATCH -MONDO:0019346 sialidosis type 1 skos:exactMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis type 1 LEXMATCH -MONDO:0019347 peeling skin syndrome skos:exactMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peeling skin syndrome LEXMATCH -MONDO:0019349 Sotos syndrome skos:exactMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome LEXMATCH -MONDO:0019350 hereditary spherocytosis skos:exactMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis LEXMATCH -MONDO:0019351 isolated spina bifida skos:exactMatch Orphanet:823 Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated spina bifida LEXMATCH -MONDO:0019353 Stargardt disease skos:exactMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stargardt disease LEXMATCH -MONDO:0019354 Stickler syndrome skos:exactMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome LEXMATCH -MONDO:0019355 adult-onset Still disease skos:exactMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease LEXMATCH -MONDO:0019356 urogenital tract malformation skos:exactMatch Orphanet:83001 Urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urogenital tract malformation LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:exactMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital stenosis of the cervical spine LEXMATCH -MONDO:0019357 congenital narrowing of cervical spinal canal skos:exactMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital narrowing of cervical spinal canal LEXMATCH -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency skos:exactMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy due to sulfite oxidase deficiency LEXMATCH -MONDO:0019359 Rocky mountain spotted fever skos:exactMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rocky mountain spotted fever LEXMATCH -MONDO:0019360 rickettsialpox skos:exactMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rickettsialpox LEXMATCH -MONDO:0019362 epidemic louse-borne typhus skos:exactMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidemic typhus LEXMATCH -MONDO:0019364 pseudotyphus of California skos:exactMatch Orphanet:83316 Pseudotyphus of California semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudotyphus of california LEXMATCH -MONDO:0019365 scrub typhus skos:exactMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scrub typhus LEXMATCH -MONDO:0019366 free sialic acid storage disease skos:exactMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label free sialic acid storage disease LEXMATCH -MONDO:0019367 regional odontodysplasia skos:exactMatch Orphanet:83450 Regional odontodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regional odontodysplasia LEXMATCH -MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label florid cemento-osseous dysplasia LEXMATCH -MONDO:0019369 complex regional pain syndrome skos:exactMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome LEXMATCH -MONDO:0019370 vulvovaginal gingival syndrome skos:exactMatch Orphanet:83453 Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvovaginal gingival syndrome LEXMATCH -MONDO:0019371 narcolepsy without cataplexy skos:exactMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym narcolepsy without cataplexy LEXMATCH -MONDO:0019372 solitary bone cyst skos:exactMatch Orphanet:83468 Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst LEXMATCH -MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic small round cell tumor LEXMATCH -MONDO:0019374 CAMOS syndrome skos:exactMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camos syndrome LEXMATCH -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome skos:exactMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome LEXMATCH -MONDO:0019376 West-Nile encephalitis skos:exactMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label west-nile encephalitis LEXMATCH -MONDO:0019377 Mycoplasma encephalitis skos:exactMatch Orphanet:83482 Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycoplasma encephalitis LEXMATCH -MONDO:0019378 la Crosse encephalitis skos:exactMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label la crosse encephalitis LEXMATCH -MONDO:0019380 western equine encephalitis skos:exactMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis LEXMATCH -MONDO:0019383 acute disseminated encephalomyelitis skos:exactMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis LEXMATCH -MONDO:0019384 encephalitis lethargica skos:exactMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalitis lethargica LEXMATCH -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:exactMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steroid-responsive encephalopathy associated with autoimmune thyroiditis LEXMATCH -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome skos:exactMatch Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrostomia-preauricular tags-external ophthalmoplegia syndrome LEXMATCH -MONDO:0019388 pelvis syndrome skos:exactMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome LEXMATCH -MONDO:0019388 pelvis syndrome skos:exactMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sacral syndrome LEXMATCH -MONDO:0019388 pelvis syndrome skos:exactMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lumbar syndrome LEXMATCH -MONDO:0019388 pelvis syndrome skos:exactMatch Orphanet:83628 LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pelvis syndrome LEXMATCH -MONDO:0019390 Susac syndrome skos:exactMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susac syndrome LEXMATCH -MONDO:0019391 Fanconi anemia skos:exactMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi anemia LEXMATCH -MONDO:0019392 syringocystadenoma papilliferum skos:exactMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syringocystadenoma papilliferum LEXMATCH -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects skos:exactMatch Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic malabsorption due to bile acid synthesis defects LEXMATCH -MONDO:0019394 Senior-Boichis syndrome skos:exactMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-boichis syndrome LEXMATCH -MONDO:0019395 Hinman syndrome skos:exactMatch Orphanet:84085 Hinman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hinman syndrome LEXMATCH -MONDO:0019396 collagen type III glomerulopathy skos:exactMatch Orphanet:84087 Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label collagen type iii glomerulopathy LEXMATCH -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions skos:exactMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmin-related myopathy with mallory body-like inclusions LEXMATCH -MONDO:0019399 Isaac syndrome skos:exactMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym continuous muscle fiber activity syndrome LEXMATCH -MONDO:0019399 Isaac syndrome skos:exactMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym quantal squander syndrome LEXMATCH -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital dyserythropoietic anemia LEXMATCH -MONDO:0019404 perineurioma skos:exactMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineurioma LEXMATCH -MONDO:0019405 facial onset sensory and motor neuronopathy skos:exactMatch Orphanet:85162 Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial onset sensory and motor neuronopathy LEXMATCH -MONDO:0019406 craniofacial conodysplasia skos:exactMatch Orphanet:85168 Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofacial conodysplasia LEXMATCH -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:exactMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic dysplasia, saul-wilson type LEXMATCH -MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astley-kendall dysplasia LEXMATCH -MONDO:0019409 idiopathic juvenile osteoporosis skos:exactMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic juvenile osteoporosis LEXMATCH -MONDO:0019411 genochondromatosis type 1 skos:exactMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genochondromatosis type 1 LEXMATCH -MONDO:0019412 dysspondyloenchondromatosis skos:exactMatch Orphanet:85198 Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysspondyloenchondromatosis LEXMATCH -MONDO:0019414 BRESEK syndrome skos:exactMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bresek syndrome LEXMATCH -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal and neonatal alloimmune thrombocytopenia LEXMATCH -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome skos:exactMatch Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome LEXMATCH -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome skos:exactMatch Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome LEXMATCH -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome skos:exactMatch Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-macrocephaly-macroorchidism syndrome LEXMATCH -MONDO:0019420 X-linked intellectual disability, Pai type skos:exactMatch Orphanet:85322 X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, pai type LEXMATCH -MONDO:0019421 X-linked intellectual disability, Seemanova type skos:exactMatch Orphanet:85323 X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, seemanova type LEXMATCH -MONDO:0019422 X-linked intellectual disability, Stevenson type skos:exactMatch Orphanet:85325 X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stevenson type LEXMATCH -MONDO:0019423 X-linked intellectual disability, Stoll type skos:exactMatch Orphanet:85326 X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stoll type LEXMATCH -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome skos:exactMatch Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-acromegaly-hyperactivity syndrome LEXMATCH -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type skos:exactMatch Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked neurodegenerative syndrome, bertini type LEXMATCH -MONDO:0019428 fried syndrome skos:exactMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fried syndrome LEXMATCH -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type skos:exactMatch Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked neurodegenerative syndrome, hamel type LEXMATCH -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome skos:exactMatch Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-ataxia-apraxia syndrome LEXMATCH -MONDO:0019431 primitive portal vein thrombosis skos:exactMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive portal vein thrombosis LEXMATCH -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid factor-negative polyarthritis LEXMATCH -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligoarticular juvenile idiopathic arthritis LEXMATCH -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic-onset juvenile idiopathic arthritis LEXMATCH -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid factor-positive polyarticular juvenile idiopathic arthritis LEXMATCH -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis-related juvenile idiopathic arthritis LEXMATCH -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enthesitis-related juvenile idiopathic arthritis LEXMATCH -MONDO:0019438 AL amyloidosis skos:exactMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis LEXMATCH -MONDO:0019439 AA amyloidosis skos:exactMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aa amyloidosis LEXMATCH -MONDO:0019440 wild type ABeta2M amyloidosis skos:exactMatch Orphanet:85446 Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wild type abeta2m amyloidosis LEXMATCH -MONDO:0019441 ATTRV122I amyloidosis skos:exactMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attrv122i amyloidosis LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenitally uncorrected transposition of the great vessels LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated ventriculoarterial discordance LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventriculoarterial discordance with atrioventricular concordance LEXMATCH -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenitally uncorrected transposition of the great arteries LEXMATCH -MONDO:0019444 trichinellosis skos:exactMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis LEXMATCH -MONDO:0019445 trichofolliculoma skos:exactMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichofolliculoma LEXMATCH -MONDO:0019446 localized lichen myxedematosus skos:exactMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus LEXMATCH -MONDO:0019447 atypical lichen myxedematosus skos:exactMatch Orphanet:86797 Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical lichen myxedematosus LEXMATCH -MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign adult familial myoclonic epilepsy LEXMATCH -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome skos:exactMatch Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3-familial fetal akinesia sequence syndrome LEXMATCH -MONDO:0019450 lissencephaly with cerebellar hypoplasia skos:exactMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia LEXMATCH -MONDO:0019451 chronic neutrophilic leukemia skos:exactMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neutrophilic leukemia LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmpd-u LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated myeloproliferative disease LEXMATCH -MONDO:0019452 myeloproliferative neoplasm, unclassifiable skos:exactMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disease, unclassifiable LEXMATCH -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:exactMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory cytopenia with multilineage dysplasia LEXMATCH -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:exactMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia with excess blasts LEXMATCH -MONDO:0019455 acute panmyelosis with myelofibrosis skos:exactMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with multilineage dysplasia LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with myelodysplasia-related features LEXMATCH -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:exactMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with multilineage dysplasia LEXMATCH -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome skos:exactMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label therapy related acute myeloid leukemia and myelodysplastic syndrome LEXMATCH -MONDO:0019458 acute basophilic leukemia skos:exactMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute basophilic leukemia LEXMATCH -MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute leukemia of ambiguous lineage LEXMATCH -MONDO:0019461 B-cell prolymphocytic leukemia skos:exactMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell prolymphocytic leukemia LEXMATCH -MONDO:0019462 splenic marginal zone lymphoma skos:exactMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenic marginal zone lymphoma LEXMATCH -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease skos:exactMatch Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-amyloid monoclonal immunoglobulin deposition disease LEXMATCH -MONDO:0019464 heavy chain disease skos:exactMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heavy chain disease LEXMATCH -MONDO:0019465 nodal marginal zone B-cell lymphoma skos:exactMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodal marginal zone b-cell lymphoma LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis LEXMATCH -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm skos:exactMatch Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm LEXMATCH -MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell prolymphocytic leukemia LEXMATCH -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:exactMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell large granular lymphocyte leukemia LEXMATCH -MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive nk-cell leukemia LEXMATCH -MONDO:0019471 adult T-cell leukemia/lymphoma skos:exactMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult t-cell leukemia/lymphoma LEXMATCH -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extranodal nasal nk/t cell lymphoma LEXMATCH -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enteropathy-associated t-cell lymphoma LEXMATCH -MONDO:0019474 hepatosplenic T-cell lymphoma skos:exactMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma LEXMATCH -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma LEXMATCH -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:exactMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous peripheral t-cell lymphoma not otherwise specified LEXMATCH -MONDO:0019479 histiocytic sarcoma skos:exactMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma LEXMATCH -MONDO:0019480 Langerhans cell sarcoma skos:exactMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langerhans cell sarcoma LEXMATCH -MONDO:0019482 dendritic cell sarcoma not otherwise specified skos:exactMatch Orphanet:86903 Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell sarcoma not otherwise specified LEXMATCH -MONDO:0019483 methotrexate-associated lymphoproliferative disorders skos:exactMatch Orphanet:86904 Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate-associated lymphoproliferative disorders LEXMATCH -MONDO:0019484 hypothalamic hamartomas with gelastic seizures skos:exactMatch Orphanet:86906 Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothalamic hamartomas with gelastic seizures LEXMATCH -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hemiconvulsion-hemiplegia syndrome LEXMATCH -MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch Orphanet:86911 Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy with myoclonic absences LEXMATCH -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies skos:exactMatch Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic epilepsy in non-progressive encephalopathies LEXMATCH -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome skos:exactMatch Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome LEXMATCH -MONDO:0019490 progressive familial heart block skos:exactMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial lenègre disease LEXMATCH -MONDO:0019490 progressive familial heart block skos:exactMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial lev disease LEXMATCH -MONDO:0019490 progressive familial heart block skos:exactMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial lev-lenègre disease LEXMATCH -MONDO:0019490 progressive familial heart block skos:exactMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial pccd LEXMATCH -MONDO:0019490 progressive familial heart block skos:exactMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial progressive heart block LEXMATCH -MONDO:0019493 primary adult heart tumor skos:exactMatch Orphanet:874 Primary adult heart tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary adult heart tumor LEXMATCH -MONDO:0019494 primary pediatric heart tumor skos:exactMatch Orphanet:875 Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pediatric heart tumor LEXMATCH -MONDO:0019496 neuroendocrine neoplasm skos:exactMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroendocrine neoplasm LEXMATCH -MONDO:0019498 tungiasis skos:exactMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tungiasis LEXMATCH -MONDO:0019499 Turner syndrome skos:exactMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome LEXMATCH -MONDO:0019500 extragonadal teratoma skos:exactMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma LEXMATCH -MONDO:0019501 Usher syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome LEXMATCH -MONDO:0019502 autosomal recessive non-syndromic intellectual disability skos:exactMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive non-syndromic intellectual disability LEXMATCH -MONDO:0019503 anterior segment dysgenesis skos:exactMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anterior segment dysgenesis LEXMATCH -MONDO:0019504 superior limbic keratoconjunctivitis skos:exactMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior limbic keratoconjunctivitis LEXMATCH -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome skos:exactMatch Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome LEXMATCH -MONDO:0019507 amelogenesis imperfecta skos:exactMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta LEXMATCH -MONDO:0019508 van der Woude syndrome skos:exactMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van der woude syndrome LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous hypersensitivity vasculitis LEXMATCH -MONDO:0019509 cutaneous leukocytoclastic angiitis skos:exactMatch Orphanet:889 Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous small vessel vasculitis LEXMATCH -MONDO:0019514 hepatic veno-occlusive disease skos:exactMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:exactMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym criswick-schepens syndrome LEXMATCH -MONDO:0019516 exudative vitreoretinopathy skos:exactMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial exudative vitreoretinopathy LEXMATCH -MONDO:0019517 Waardenburg syndrome type 2 skos:exactMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 2 LEXMATCH -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg-shah syndrome LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:exactMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dystrophic epidermolysis bullosa generalisata mitis LEXMATCH -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other skos:exactMatch Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rdeb, non-hallopeau-siemens type LEXMATCH -MONDO:0019524 Bartter syndrome type 4 skos:exactMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartter syndrome type 4 LEXMATCH -MONDO:0019525 tetrasomy X skos:exactMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy x LEXMATCH -MONDO:0019526 erythema elevatum diutinum skos:exactMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum LEXMATCH -MONDO:0019527 undifferentiated connective tissue syndrome skos:exactMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated connective tissue syndrome LEXMATCH -MONDO:0019528 inflammatory pseudotumor of the liver skos:exactMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory pseudotumor of the liver LEXMATCH -MONDO:0019529 radiation myelitis skos:exactMatch Orphanet:90021 Radiation myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation myelitis LEXMATCH -MONDO:0019530 non-syndromic syndactyly skos:exactMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic syndactyly LEXMATCH -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to glutathione reductase deficiency LEXMATCH -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia, warm type LEXMATCH -MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch Orphanet:90035 Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal cold hemoglobinuria LEXMATCH -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch Orphanet:90036 Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed-type autoimmune hemolytic anemia LEXMATCH -MONDO:0019535 drug-induced autoimmune hemolytic anemia skos:exactMatch Orphanet:90037 Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced autoimmune hemolytic anemia LEXMATCH -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shiga toxin-associated hemolytic uremic syndrome LEXMATCH -MONDO:0019537 hemoglobin D disease skos:exactMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin d disease LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:exactMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stress erythrocytosis LEXMATCH -MONDO:0019538 Gaisbock syndrome skos:exactMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stress polycythemia LEXMATCH -MONDO:0019540 diffuse alveolar hemorrhage skos:exactMatch Orphanet:90060 Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse alveolar hemorrhage LEXMATCH -MONDO:0019542 acute liver failure skos:exactMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute liver failure LEXMATCH -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage skos:exactMatch Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired aneurysmal subarachnoid hemorrhage LEXMATCH -MONDO:0019544 cocaine intoxication skos:exactMatch Orphanet:90068 Cocaine intoxication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine intoxication LEXMATCH -MONDO:0019545 systemic monochloroacetate poisoning skos:exactMatch Orphanet:90069 Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic monochloroacetate poisoning LEXMATCH -MONDO:0019547 Wells syndrome skos:exactMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wells syndrome LEXMATCH -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease skos:exactMatch Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intermediate charcot-marie-tooth disease LEXMATCH -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency skos:exactMatch Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset axonal neuropathy due to mfn2 deficiency LEXMATCH -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy skos:exactMatch Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy with acrodystrophy LEXMATCH -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy type 6 LEXMATCH -MONDO:0019552 centrifugal lipodystrophy skos:exactMatch Orphanet:90156 Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centrifugal lipodystrophy LEXMATCH -MONDO:0019553 drug-induced localized lipodystrophy skos:exactMatch Orphanet:90157 Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced localized lipodystrophy LEXMATCH -MONDO:0019554 idiopathic localized lipodystrophy skos:exactMatch Orphanet:90158 Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic localized lipodystrophy LEXMATCH -MONDO:0019556 pressure-induced localized lipoatrophy skos:exactMatch Orphanet:90160 Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pressure-induced localized lipoatrophy LEXMATCH -MONDO:0019557 chilblain lupus skos:exactMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chilblain lupus LEXMATCH -MONDO:0019558 discoid lupus erythematosus skos:exactMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus LEXMATCH -MONDO:0019559 hypertrophic or verrucous lupus erythematosus skos:exactMatch Orphanet:90282 Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic or verrucous lupus erythematosus LEXMATCH -MONDO:0019560 lupus erythematosus tumidus skos:exactMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus tumidus LEXMATCH -MONDO:0019561 lupus erythematosus panniculitis skos:exactMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus panniculitis LEXMATCH -MONDO:0019562 localized scleroderma skos:exactMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma LEXMATCH -MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limited cutaneous systemic scleroderma LEXMATCH -MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:exactMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary von willebrand disease LEXMATCH -MONDO:0019565 hereditary von Willebrand disease skos:exactMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary von willebrand disease LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 1 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 2 LEXMATCH -MONDO:0019571 autosomal dominant cutis laxa skos:exactMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cutis laxa LEXMATCH -MONDO:0019572 autosomal recessive cutis laxa type 1 skos:exactMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 1 LEXMATCH -MONDO:0019573 autosomal recessive cutis laxa type 2 skos:exactMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2 LEXMATCH -MONDO:0019574 secondary intestinal lymphangiectasia skos:exactMatch Orphanet:90363 Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary intestinal lymphangiectasia LEXMATCH -MONDO:0019575 hypotrichosis simplex of the scalp skos:exactMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis simplex of the scalp LEXMATCH -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:exactMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telangiectasia macularis eruptiva perstans LEXMATCH -MONDO:0019577 anonychia-onychodystrophy syndrome skos:exactMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia-onychodystrophy syndrome LEXMATCH -MONDO:0019578 nodular lichen myxedematosus skos:exactMatch Orphanet:90393 Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lichen myxedematosus LEXMATCH -MONDO:0019579 discrete papular lichen myxedematosus skos:exactMatch Orphanet:90394 Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discrete papular lichen myxedematosus LEXMATCH -MONDO:0019580 papular mucinosis of infancy skos:exactMatch Orphanet:90395 Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular mucinosis of infancy LEXMATCH -MONDO:0019581 acral persistent papular mucinosis skos:exactMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral persistent papular mucinosis LEXMATCH -MONDO:0019582 self-healing papular mucinosis skos:exactMatch Orphanet:90397 Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label self-healing papular mucinosis LEXMATCH -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes skos:exactMatch Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus with mixed features of different subtypes LEXMATCH -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms skos:exactMatch Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms LEXMATCH -MONDO:0019585 scleromyxedema without monoclonal gammopathy skos:exactMatch Orphanet:90400 Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromyxedema without monoclonal gammopathy LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked isolated neurosensory hearing loss type dfn LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked isolated sensorineural hearing loss type dfn LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory hearing loss type dfn LEXMATCH -MONDO:0019586 X-linked nonsyndromic hearing loss skos:exactMatch Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked non-syndromic sensorineural hearing loss type dfn LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory hearing loss type dfna LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural hearing loss type dfna LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory hearing loss type dfna LEXMATCH -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:exactMatch Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant non-syndromic sensorineural hearing loss type dfna LEXMATCH -MONDO:0019600 xeroderma pigmentosum skos:exactMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum LEXMATCH -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome skos:exactMatch Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired monoclonal ig light chain-associated fanconi syndrome LEXMATCH -MONDO:0019605 immunotactoid or fibrillary glomerulopathy skos:exactMatch Orphanet:91137 Immunotactoid or fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid or fibrillary glomerulopathy LEXMATCH -MONDO:0019606 simple cryoglobulinemia skos:exactMatch Orphanet:91139 Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simple cryoglobulinemia LEXMATCH -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch Orphanet:91140 Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unspecified juvenile idiopathic arthritis LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:exactMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrohepatorenal syndrome LEXMATCH -MONDO:0019609 Zellweger spectrum disorders skos:exactMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zellweger syndrome LEXMATCH -MONDO:0019610 Zollinger-Ellison syndrome skos:exactMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zollinger-ellison syndrome LEXMATCH -MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tsh-secreting pituitary adenoma LEXMATCH -MONDO:0019612 functioning gonadotropic adenoma skos:exactMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label functioning gonadotropic adenoma LEXMATCH -MONDO:0019613 non-functioning pituitary adenoma skos:exactMatch Orphanet:91349 Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-functioning pituitary adenoma LEXMATCH -MONDO:0019615 pituitary dermoid and epidermoid cysts skos:exactMatch Orphanet:91351 Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dermoid and epidermoid cysts LEXMATCH -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome skos:exactMatch Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary deficiency due to empty sella turcica syndrome LEXMATCH -MONDO:0019618 Sheehan syndrome skos:exactMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sheehan syndrome LEXMATCH -MONDO:0019620 congenital esophageal diverticulum skos:exactMatch Orphanet:91358 Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital esophageal diverticulum LEXMATCH -MONDO:0019621 chronic pneumonitis of infancy skos:exactMatch Orphanet:91359 Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic pneumonitis of infancy LEXMATCH -MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific interstitial pneumonia LEXMATCH -MONDO:0019623 hereditary angioedema skos:exactMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema LEXMATCH -MONDO:0019624 acquired angioedema skos:exactMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial aortic dissection LEXMATCH -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thoracic aortic aneurysm and aortic dissection LEXMATCH -MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:exactMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated ankyloblepharon filiforme adnatum LEXMATCH -MONDO:0019627 isolated congenital alacrima skos:exactMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital alacrima LEXMATCH -MONDO:0019628 Rieger anomaly skos:exactMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rieger anomaly LEXMATCH -MONDO:0019629 sclerocornea skos:exactMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated congenital sclerocornea LEXMATCH -MONDO:0019630 congenital ectropion uveae skos:exactMatch Orphanet:91491 Congenital ectropion uveae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion uveae LEXMATCH -MONDO:0019631 persistent hyperplastic primary vitreous skos:exactMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous LEXMATCH -MONDO:0019632 Lyme disease skos:exactMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease LEXMATCH -MONDO:0019633 relapsing fever skos:exactMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing fever LEXMATCH -MONDO:0019634 familial nasal acilia skos:exactMatch Orphanet:922 Familial nasal acilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial nasal acilia LEXMATCH -MONDO:0019635 idiopathic achalasia skos:exactMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic achalasia LEXMATCH -MONDO:0019636 renal agenesis, unilateral skos:exactMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral LEXMATCH -MONDO:0019637 renal hypoplasia skos:exactMatch Orphanet:93101 Renal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia LEXMATCH -MONDO:0019638 renal dysplasia skos:exactMatch Orphanet:93108 Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia LEXMATCH -MONDO:0019639 congenital megacalycosis skos:exactMatch Orphanet:93109 Congenital megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital megacalycosis LEXMATCH -MONDO:0019640 posterior urethral valve skos:exactMatch Orphanet:93110 Posterior urethral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior urethral valve LEXMATCH -MONDO:0019641 Pauci-immune glomerulonephritis skos:exactMatch Orphanet:93126 Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary vitamin d-resistant rickets LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vddr ii LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vdrr ii LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d-dependent rickets type ii LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d-resistant rickets type ii LEXMATCH -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocalcemic vitamin d-resistant rickets LEXMATCH -MONDO:0019643 transient pseudohypoaldosteronism skos:exactMatch Orphanet:93164 Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient pseudohypoaldosteronism LEXMATCH -MONDO:0019644 renal dysplasia, unilateral skos:exactMatch Orphanet:93172 Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia, unilateral LEXMATCH -MONDO:0019645 renal dysplasia, bilateral skos:exactMatch Orphanet:93173 Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia, bilateral LEXMATCH -MONDO:0019646 unilateral congenital megacalycosis skos:exactMatch Orphanet:93176 Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral congenital megacalycosis LEXMATCH -MONDO:0019647 congenital bilateral megacalycosis skos:exactMatch Orphanet:93177 Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral megacalycosis LEXMATCH -MONDO:0019648 achondrogenesis skos:exactMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis LEXMATCH -MONDO:0019659 Pfeiffer syndrome type 1 skos:exactMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 1 LEXMATCH -MONDO:0019660 Pfeiffer syndrome type 2 skos:exactMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 2 LEXMATCH -MONDO:0019661 Pfeiffer syndrome type 3 skos:exactMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 3 LEXMATCH -MONDO:0019662 short rib-polydactyly syndrome, Majewski type skos:exactMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short rib-polydactyly syndrome, majewski type LEXMATCH -MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monostotic fibrous dysplasia LEXMATCH -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:exactMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, papss2 type LEXMATCH -MONDO:0019667 spondyloepiphyseal dysplasia tarda skos:exactMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda LEXMATCH -MONDO:0019668 adenoma of pancreas skos:exactMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenoma of pancreas LEXMATCH -MONDO:0019669 hypochondrogenesis skos:exactMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondrogenesis LEXMATCH -MONDO:0019670 ulnar hemimelia skos:exactMatch Orphanet:93320 Ulnar hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar hemimelia LEXMATCH -MONDO:0019671 radial hemimelia skos:exactMatch Orphanet:93321 Radial hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial hemimelia LEXMATCH -MONDO:0019672 fibular hemimelia skos:exactMatch Orphanet:93323 Fibular hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular hemimelia LEXMATCH -MONDO:0019673 postaxial polydactyly type A skos:exactMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly type a LEXMATCH -MONDO:0019674 postaxial polydactyly type B skos:exactMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly type b LEXMATCH -MONDO:0019676 brachydactyly type B skos:exactMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b LEXMATCH -MONDO:0019677 brachydactyly type E skos:exactMatch Orphanet:93387 Brachydactyly type E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type e LEXMATCH -MONDO:0019679 brachydactyly type A7 skos:exactMatch Orphanet:93397 Brachydactyly type A7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a7 LEXMATCH -MONDO:0019680 genochondromatosis type 2 skos:exactMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genochondromatosis type 2 LEXMATCH -MONDO:0019681 juvenile sialidosis type 2 skos:exactMatch Orphanet:93399 Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile sialidosis type 2 LEXMATCH -MONDO:0019682 congenital sialidosis type 2 skos:exactMatch Orphanet:93400 Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sialidosis type 2 LEXMATCH -MONDO:0019685 FGFR3-related chondrodysplasia skos:exactMatch Orphanet:93420 FGFR3-related chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fgfr3-related chondrodysplasia LEXMATCH -MONDO:0019689 perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perlecan-related bone disorder LEXMATCH -MONDO:0019690 filamin-related bone disorder skos:exactMatch Orphanet:93425 Filamin-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filamin-related bone disorder LEXMATCH -MONDO:0019691 short rib dysplasia skos:exactMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym short rib dysplasia LEXMATCH -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia and pseudoachondroplasia LEXMATCH -MONDO:0019693 multiple metaphyseal dysplasia skos:exactMatch Orphanet:93430 Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple metaphyseal dysplasia LEXMATCH -MONDO:0019694 spondylodysplastic dysplasia skos:exactMatch Orphanet:93434 Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylodysplastic dysplasia LEXMATCH -MONDO:0019695 acromelic dysplasia skos:exactMatch Orphanet:93436 Acromelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromelic dysplasia LEXMATCH -MONDO:0019696 acromesomelic dysplasia skos:exactMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromesomelic dysplasia LEXMATCH -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia skos:exactMatch Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic and rhizo-mesomelic dysplasia LEXMATCH -MONDO:0019698 bent bone dysplasia skos:exactMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bent bone dysplasia LEXMATCH -MONDO:0019699 slender bone dysplasia skos:exactMatch Orphanet:93440 Slender bone dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slender bone dysplasia LEXMATCH -MONDO:0019701 chondrodysplasia punctata skos:exactMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata LEXMATCH -MONDO:0019702 neonatal osteosclerotic dysplasia skos:exactMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal osteosclerotic dysplasia LEXMATCH -MONDO:0019707 primary osteolysis skos:exactMatch Orphanet:93449 Primary osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary osteolysis LEXMATCH -MONDO:0019712 patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar dysostosis LEXMATCH -MONDO:0019713 non-syndromic limb reduction defect skos:exactMatch Orphanet:93457 Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic limb reduction defect LEXMATCH -MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic polydactyly, syndactyly and/or hyperphalangy LEXMATCH -MONDO:0019716 overgrowth syndrome skos:exactMatch Orphanet:93460 Overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth syndrome LEXMATCH -MONDO:0019718 lethal chondrodysplasia skos:exactMatch Orphanet:93465 Lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal chondrodysplasia LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital anomalies of kidney and urinary tract LEXMATCH -MONDO:0019719 congenital anomaly of kidney and urinary tract skos:exactMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal or urinary tract malformation LEXMATCH -MONDO:0019725 pediatric systemic lupus erythematosus skos:exactMatch Orphanet:93552 Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric systemic lupus erythematosus LEXMATCH -MONDO:0019726 type II mixed cryoglobulinemia skos:exactMatch Orphanet:93554 Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc type ii LEXMATCH -MONDO:0019727 mixed cryoglobulinemia type III skos:exactMatch Orphanet:93555 Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed cryoglobulinemia type iii LEXMATCH -MONDO:0019728 heavy chain deposition disease skos:exactMatch Orphanet:93556 Heavy chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heavy chain deposition disease LEXMATCH -MONDO:0019729 light and heavy chain deposition disease skos:exactMatch Orphanet:93557 Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disease LEXMATCH -MONDO:0019730 light chain deposition disease skos:exactMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light chain deposition disease LEXMATCH -MONDO:0019731 AApoAI amyloidosis skos:exactMatch Orphanet:93560 AApoAI amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aapoai amyloidosis LEXMATCH -MONDO:0019732 ALys amyloidosis skos:exactMatch Orphanet:93561 ALys amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alys amyloidosis LEXMATCH -MONDO:0019733 AFib amyloidosis skos:exactMatch Orphanet:93562 AFib amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label afib amyloidosis LEXMATCH -MONDO:0019734 juvenile polymyositis skos:exactMatch Orphanet:93568 Juvenile polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polymyositis LEXMATCH -MONDO:0019735 polymyalgia rheumatica skos:exactMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica LEXMATCH -MONDO:0019736 dense deposit disease skos:exactMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dense deposit disease LEXMATCH -MONDO:0019737 thrombotic microangiopathy skos:exactMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:exactMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ahus with anti-factor h antibodies LEXMATCH -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies skos:exactMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hus with anti-factor h antibodies LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired ttp LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune thrombotic thrombocytopenic purpura LEXMATCH -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura LEXMATCH -MONDO:0019742 late-onset nephronophthisis skos:exactMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset nephronophthisis LEXMATCH -MONDO:0019745 cystinuria type A skos:exactMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria type a LEXMATCH -MONDO:0019746 cystinuria type B skos:exactMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria type b LEXMATCH -MONDO:0019751 autoinflammatory syndrome skos:exactMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome LEXMATCH -MONDO:0019753 localized Castleman disease skos:exactMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym localized castleman disease LEXMATCH -MONDO:0019753 localized Castleman disease skos:exactMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym localized castleman disease LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:exactMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym human herpesvirus-8-associated multicentric castleman disease LEXMATCH -MONDO:0019754 multicentric Castleman disease skos:exactMatch Orphanet:570438 HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hhv-8-associated multicentric castleman disease LEXMATCH -MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:377789 Malformation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malformation syndrome LEXMATCH -MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:93890 Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malformation syndrome LEXMATCH -MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:93890 Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare developmental defect during embryogenesis LEXMATCH -MONDO:0019756 lobar holoprosencephaly skos:exactMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobar holoprosencephaly LEXMATCH -MONDO:0019757 alobar holoprosencephaly skos:exactMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alobar holoprosencephaly LEXMATCH -MONDO:0019761 laryngotracheoesophageal cleft type 1 skos:exactMatch Orphanet:93938 Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 1 LEXMATCH -MONDO:0019762 laryngotracheoesophageal cleft type 2 skos:exactMatch Orphanet:93939 Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 2 LEXMATCH -MONDO:0019763 laryngotracheoesophageal cleft type 3 skos:exactMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 3 LEXMATCH -MONDO:0019764 laryngotracheoesophageal cleft type 4 skos:exactMatch Orphanet:93941 Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 4 LEXMATCH -MONDO:0019766 X-linked intellectual disability, Porteous type skos:exactMatch Orphanet:93945 X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, porteous type LEXMATCH -MONDO:0019767 hamel cerebro-palato-cardiac syndrome skos:exactMatch Orphanet:93946 Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hamel cerebro-palato-cardiac syndrome LEXMATCH -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type skos:exactMatch Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, golabi-ito-hall type LEXMATCH -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type skos:exactMatch Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, sutherland-haan type LEXMATCH -MONDO:0019771 oromandibular dystonia skos:exactMatch Orphanet:93958 Oromandibular dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular dystonia LEXMATCH -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:exactMatch Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm-oromandibular dystonia syndrome LEXMATCH -MONDO:0019773 myelomeningocele skos:exactMatch Orphanet:93969 Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelomeningocele LEXMATCH -MONDO:0019780 anotia skos:exactMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anotia LEXMATCH -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label astrocytoma LEXMATCH -MONDO:0019782 humero-ulnar synostosis skos:exactMatch Orphanet:94056 Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis LEXMATCH -MONDO:0019783 neovascular glaucoma skos:exactMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neovascular glaucoma LEXMATCH -MONDO:0019784 12q14 microdeletion syndrome skos:exactMatch Orphanet:94063 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12q14 microdeletion syndrome LEXMATCH -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia skos:exactMatch Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:exactMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immune-mediated protracted diarrhea of infancy LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:exactMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe immune-mediated enteropathy LEXMATCH -MONDO:0019787 autoimmune enteropathy skos:exactMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune enteropathy LEXMATCH -MONDO:0019788 non-secreting paraganglioma skos:exactMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-secreting paraganglioma LEXMATCH -MONDO:0019789 cytophagic histiocytic panniculitis skos:exactMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytophagic histiocytic panniculitis LEXMATCH -MONDO:0019790 neuroleptic malignant syndrome skos:exactMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroleptic malignant syndrome LEXMATCH -MONDO:0019791 recessive mitochondrial ataxia syndrome skos:exactMatch Orphanet:94125 Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive mitochondrial ataxia syndrome LEXMATCH -MONDO:0019792 autosomal dominant cerebellar ataxia type I skos:exactMatch Orphanet:94145 Autosomal dominant cerebellar ataxia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type i LEXMATCH -MONDO:0019793 autosomal dominant cerebellar ataxia type III skos:exactMatch Orphanet:94148 Autosomal dominant cerebellar ataxia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type iii LEXMATCH -MONDO:0019794 autosomal dominant cerebellar ataxia type IV skos:exactMatch Orphanet:94149 Autosomal dominant cerebellar ataxia type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type iv LEXMATCH -MONDO:0019795 acalvaria skos:exactMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acalvaria LEXMATCH -MONDO:0019797 acrodysostosis skos:exactMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodysostosis LEXMATCH -MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoerythropoietic porphyria LEXMATCH -MONDO:0019801 acute adrenal insufficiency skos:exactMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute adrenal insufficiency LEXMATCH -MONDO:0019802 secondary short bowel syndrome skos:exactMatch Orphanet:95427 Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary short bowel syndrome LEXMATCH -MONDO:0019803 angioma serpiginosum skos:exactMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioma serpiginosum LEXMATCH -MONDO:0019804 tracheomalacia skos:exactMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital major airway collapse LEXMATCH -MONDO:0019804 tracheomalacia skos:exactMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tracheomalacia LEXMATCH -MONDO:0019805 twin to twin transfusion syndrome skos:exactMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin to twin transfusion syndrome LEXMATCH -MONDO:0019806 primary progressive aphasia skos:exactMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia LEXMATCH -MONDO:0019807 mesocardia skos:exactMatch Orphanet:95443 Mesocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesocardia LEXMATCH -MONDO:0019808 aortic valve atresia skos:exactMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital aortic valve atresia LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis LEXMATCH -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs-ten LEXMATCH -MONDO:0019811 tricuspid valve agenesis skos:exactMatch Orphanet:95457 Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid valve agenesis LEXMATCH -MONDO:0019813 congenital tricuspid stenosis skos:exactMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis LEXMATCH -MONDO:0019814 straddling or overriding tricuspid valve skos:exactMatch Orphanet:95461 Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label straddling or overriding tricuspid valve LEXMATCH -MONDO:0019815 accessory tricuspid valve tissue skos:exactMatch Orphanet:95462 Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label accessory tricuspid valve tissue LEXMATCH -MONDO:0019817 congenital mitral valve insufficiency and/or stenosis skos:exactMatch Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral valve insufficiency and/or stenosis LEXMATCH -MONDO:0019818 cleft mitral valve skos:exactMatch Orphanet:95465 Cleft mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft mitral valve LEXMATCH -MONDO:0019819 double-orifice mitral valve skos:exactMatch Orphanet:95474 Double-orifice mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double-orifice mitral valve LEXMATCH -MONDO:0019820 univentricular cardiopathy skos:exactMatch Orphanet:95483 Univentricular cardiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label univentricular cardiopathy LEXMATCH -MONDO:0019823 premature closure of the arterial duct skos:exactMatch Orphanet:95486 Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature closure of the arterial duct LEXMATCH -MONDO:0019824 non-acquired pituitary hormone deficiency skos:exactMatch Orphanet:95488 Non-acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-acquired pituitary hormone deficiency LEXMATCH -MONDO:0019825 congenital coronary artery aneurysm skos:exactMatch Orphanet:95491 Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital coronary artery aneurysm LEXMATCH -MONDO:0019828 pituitary stalk interruption syndrome skos:exactMatch Orphanet:95496 Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary stalk interruption syndrome LEXMATCH -MONDO:0019829 congenital anomaly of superior vena cava skos:exactMatch Orphanet:95498 Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of superior vena cava LEXMATCH -MONDO:0019830 congenital anomaly of the inferior vena cava skos:exactMatch Orphanet:95499 Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of the inferior vena cava LEXMATCH -MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch Orphanet:95502 Acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired pituitary hormone deficiency LEXMATCH -MONDO:0019835 primary hypophysitis skos:exactMatch Orphanet:95506 Primary hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypophysitis LEXMATCH -MONDO:0019836 congenital anomaly of hepatic vein skos:exactMatch Orphanet:95507 Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of hepatic vein LEXMATCH -MONDO:0019838 adenohypophysitis skos:exactMatch Orphanet:95512 Adenohypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenohypophysitis LEXMATCH -MONDO:0019839 panhypophysitis skos:exactMatch Orphanet:95513 Panhypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panhypophysitis LEXMATCH -MONDO:0019846 acquired central diabetes insipidus skos:exactMatch Orphanet:95626 Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired central diabetes insipidus LEXMATCH -MONDO:0019848 posterior hypospadias skos:exactMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perineal, scrotal or penoscrotal hypospadias LEXMATCH -MONDO:0019854 thyroid ectopia skos:exactMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid ectopia LEXMATCH -MONDO:0019855 athyreosis skos:exactMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label athyreosis LEXMATCH -MONDO:0019858 idiopathic congenital hypothyroidism skos:exactMatch Orphanet:95717 Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic congenital hypothyroidism LEXMATCH -MONDO:0019860 thyroid hemiagenesis skos:exactMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hemiagenesis LEXMATCH -MONDO:0019861 thyroid hypoplasia skos:exactMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hypoplasia LEXMATCH -MONDO:0019862 levocardia skos:exactMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label levocardia LEXMATCH -MONDO:0019864 tetrasomy 21 skos:exactMatch Orphanet:96055 Tetrasomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 21 LEXMATCH -MONDO:0019865 mosaic trisomy 4 skos:exactMatch Orphanet:96059 Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 4 LEXMATCH -MONDO:0019866 mosaic trisomy 5 skos:exactMatch Orphanet:96060 Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 5 LEXMATCH -MONDO:0019867 mosaic trisomy 8 skos:exactMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 8 LEXMATCH -MONDO:0019868 mosaic trisomy 10 skos:exactMatch Orphanet:96063 Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 10 LEXMATCH -MONDO:0019869 mosaic trisomy 22 skos:exactMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 22 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:exactMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 1p36 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:exactMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 1pter LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:exactMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 1p36 LEXMATCH -MONDO:0019870 distal trisomy 1p36 skos:exactMatch Orphanet:96069 Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 1p36 LEXMATCH -MONDO:0019871 distal trisomy 2p skos:exactMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 2p LEXMATCH -MONDO:0019871 distal trisomy 2p skos:exactMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 2pter LEXMATCH -MONDO:0019871 distal trisomy 2p skos:exactMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 2p LEXMATCH -MONDO:0019871 distal trisomy 2p skos:exactMatch Orphanet:96070 Distal duplication 2p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 2p LEXMATCH -MONDO:0019872 distal trisomy 3p skos:exactMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 3p LEXMATCH -MONDO:0019872 distal trisomy 3p skos:exactMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 3pter LEXMATCH -MONDO:0019872 distal trisomy 3p skos:exactMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 3p LEXMATCH -MONDO:0019872 distal trisomy 3p skos:exactMatch Orphanet:96071 Distal duplication 3p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 3p LEXMATCH -MONDO:0019873 4p16.3 microduplication syndrome skos:exactMatch Orphanet:96072 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 4p16.3 microduplication syndrome LEXMATCH -MONDO:0019874 distal trisomy 7p skos:exactMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 7p LEXMATCH -MONDO:0019874 distal trisomy 7p skos:exactMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 7pter LEXMATCH -MONDO:0019874 distal trisomy 7p skos:exactMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 7p LEXMATCH -MONDO:0019874 distal trisomy 7p skos:exactMatch Orphanet:96074 Distal duplication 7p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 7p LEXMATCH -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication skos:exactMatch Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 microduplication LEXMATCH -MONDO:0019876 8p inverted duplication/deletion syndrome skos:exactMatch Orphanet:96092 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p inverted duplication/deletion syndrome LEXMATCH -MONDO:0019877 distal trisomy 2q skos:exactMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 2q LEXMATCH -MONDO:0019877 distal trisomy 2q skos:exactMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 2qter LEXMATCH -MONDO:0019877 distal trisomy 2q skos:exactMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 2q LEXMATCH -MONDO:0019877 distal trisomy 2q skos:exactMatch Orphanet:96094 Distal duplication 2q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 2q LEXMATCH -MONDO:0019878 3q26 microduplication syndrome skos:exactMatch Orphanet:96095 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q26 microduplication syndrome LEXMATCH -MONDO:0019879 distal trisomy 4q skos:exactMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 4q LEXMATCH -MONDO:0019879 distal trisomy 4q skos:exactMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 4qter LEXMATCH -MONDO:0019879 distal trisomy 4q skos:exactMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 4q LEXMATCH -MONDO:0019879 distal trisomy 4q skos:exactMatch Orphanet:96096 Distal duplication 4q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 4q LEXMATCH -MONDO:0019880 distal trisomy 5q skos:exactMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 5q LEXMATCH -MONDO:0019880 distal trisomy 5q skos:exactMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 5qter LEXMATCH -MONDO:0019880 distal trisomy 5q skos:exactMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 5q LEXMATCH -MONDO:0019880 distal trisomy 5q skos:exactMatch Orphanet:96097 Distal duplication 5q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 5q LEXMATCH -MONDO:0019881 distal trisomy 6q skos:exactMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 6q LEXMATCH -MONDO:0019881 distal trisomy 6q skos:exactMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 6qter LEXMATCH -MONDO:0019881 distal trisomy 6q skos:exactMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 6q LEXMATCH -MONDO:0019881 distal trisomy 6q skos:exactMatch Orphanet:96098 Distal duplication 6q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 6q LEXMATCH -MONDO:0019882 distal trisomy 8q skos:exactMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 8q LEXMATCH -MONDO:0019882 distal trisomy 8q skos:exactMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 8qter LEXMATCH -MONDO:0019882 distal trisomy 8q skos:exactMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 8q LEXMATCH -MONDO:0019882 distal trisomy 8q skos:exactMatch Orphanet:96100 Distal duplication 8q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 8q LEXMATCH -MONDO:0019883 distal trisomy 9q skos:exactMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 9q LEXMATCH -MONDO:0019883 distal trisomy 9q skos:exactMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 9qter LEXMATCH -MONDO:0019883 distal trisomy 9q skos:exactMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 9q LEXMATCH -MONDO:0019883 distal trisomy 9q skos:exactMatch Orphanet:96101 Distal duplication 9q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 9q LEXMATCH -MONDO:0019884 distal trisomy 10q skos:exactMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 10q LEXMATCH -MONDO:0019884 distal trisomy 10q skos:exactMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 10qter LEXMATCH -MONDO:0019884 distal trisomy 10q skos:exactMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 10q LEXMATCH -MONDO:0019884 distal trisomy 10q skos:exactMatch Orphanet:96102 Distal duplication 10q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 10q LEXMATCH -MONDO:0019885 distal trisomy 11q skos:exactMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 11q LEXMATCH -MONDO:0019885 distal trisomy 11q skos:exactMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 11qter LEXMATCH -MONDO:0019885 distal trisomy 11q skos:exactMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 11q LEXMATCH -MONDO:0019885 distal trisomy 11q skos:exactMatch Orphanet:96103 Distal duplication 11q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 11q LEXMATCH -MONDO:0019886 distal trisomy 13q skos:exactMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 13q LEXMATCH -MONDO:0019886 distal trisomy 13q skos:exactMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 13qter LEXMATCH -MONDO:0019886 distal trisomy 13q skos:exactMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 13q LEXMATCH -MONDO:0019886 distal trisomy 13q skos:exactMatch Orphanet:96105 Distal duplication 13q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 13q LEXMATCH -MONDO:0019887 distal trisomy 16q skos:exactMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 16q LEXMATCH -MONDO:0019887 distal trisomy 16q skos:exactMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 16qter LEXMATCH -MONDO:0019887 distal trisomy 16q skos:exactMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 16q LEXMATCH -MONDO:0019887 distal trisomy 16q skos:exactMatch Orphanet:96106 Distal duplication 16q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 16q LEXMATCH -MONDO:0019888 distal trisomy 20q skos:exactMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 20q LEXMATCH -MONDO:0019888 distal trisomy 20q skos:exactMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 20qter LEXMATCH -MONDO:0019888 distal trisomy 20q skos:exactMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 20q LEXMATCH -MONDO:0019888 distal trisomy 20q skos:exactMatch Orphanet:96107 Distal duplication 20q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 20q LEXMATCH -MONDO:0019889 distal trisomy 22q skos:exactMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 22q LEXMATCH -MONDO:0019889 distal trisomy 22q skos:exactMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 22qter LEXMATCH -MONDO:0019889 distal trisomy 22q skos:exactMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 22q LEXMATCH -MONDO:0019889 distal trisomy 22q skos:exactMatch Orphanet:96109 Distal duplication 22q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 22q LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:exactMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric trisomy 9q LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:exactMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal duplication 9q LEXMATCH -MONDO:0019890 non-distal trisomy 9q skos:exactMatch Orphanet:96112 Non-distal duplication 9q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal trisomy 9q LEXMATCH -MONDO:0019891 monosomy 22 skos:exactMatch Orphanet:96123 Monosomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 22 LEXMATCH -MONDO:0019892 distal monosomy 7p skos:exactMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 7pter LEXMATCH -MONDO:0019892 distal monosomy 7p skos:exactMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 7p LEXMATCH -MONDO:0019892 distal monosomy 7p skos:exactMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 7p LEXMATCH -MONDO:0019892 distal monosomy 7p skos:exactMatch Orphanet:96126 Distal deletion 7p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 7p LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:exactMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 19p LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:exactMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 19p LEXMATCH -MONDO:0019893 distal monosomy 19p13.3 skos:exactMatch Orphanet:96129 Distal deletion 19p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 19p13.3 LEXMATCH -MONDO:0019895 distal monosomy 4q skos:exactMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 4qter LEXMATCH -MONDO:0019895 distal monosomy 4q skos:exactMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 4q LEXMATCH -MONDO:0019895 distal monosomy 4q skos:exactMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 4q LEXMATCH -MONDO:0019895 distal monosomy 4q skos:exactMatch Orphanet:96145 Distal deletion 4q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 4q LEXMATCH -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome due to 9q34 microdeletion LEXMATCH -MONDO:0019897 distal monosomy 12q skos:exactMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 12qter LEXMATCH -MONDO:0019897 distal monosomy 12q skos:exactMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 12q LEXMATCH -MONDO:0019897 distal monosomy 12q skos:exactMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 12q LEXMATCH -MONDO:0019897 distal monosomy 12q skos:exactMatch Orphanet:96149 Distal deletion 12q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 12q LEXMATCH -MONDO:0019898 distal monosomy 14q skos:exactMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 14q LEXMATCH -MONDO:0019898 distal monosomy 14q skos:exactMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 14q LEXMATCH -MONDO:0019898 distal monosomy 14q skos:exactMatch Orphanet:96150 Distal deletion 14q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 14q LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:exactMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric monosomy 12q LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:exactMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal deletion 12q LEXMATCH -MONDO:0019900 non-distal monosomy 12q skos:exactMatch Orphanet:96160 Non-distal deletion 12q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal monosomy 12q LEXMATCH -MONDO:0019902 monosomy 13q34 skos:exactMatch Orphanet:96168 Monosomy 13q34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 13q34 LEXMATCH -MONDO:0019903 ring chromosome 2 skos:exactMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 2 LEXMATCH -MONDO:0019904 ring chromosome 3 skos:exactMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 3 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:exactMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring 9 LEXMATCH -MONDO:0019905 ring chromosome 9 skos:exactMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 9 LEXMATCH -MONDO:0019906 ring chromosome 11 skos:exactMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(11) syndrome LEXMATCH -MONDO:0019906 ring chromosome 11 skos:exactMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 11 LEXMATCH -MONDO:0019907 ring chromosome 13 skos:exactMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 13 LEXMATCH -MONDO:0019908 ring chromosome 15 skos:exactMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 15 LEXMATCH -MONDO:0019909 ring chromosome 16 skos:exactMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 16 LEXMATCH -MONDO:0019910 maternal uniparental disomy of chromosome 2 skos:exactMatch Orphanet:96179 Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 2 LEXMATCH -MONDO:0019911 maternal uniparental disomy of chromosome 4 skos:exactMatch Orphanet:96180 Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 4 LEXMATCH -MONDO:0019912 maternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96181 Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 6 LEXMATCH -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to maternal uniparental disomy of chromosome 7 LEXMATCH -MONDO:0019914 maternal uniparental disomy of chromosome 9 skos:exactMatch Orphanet:96183 Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 9 LEXMATCH -MONDO:0019915 maternal uniparental disomy of chromosome 14 skos:exactMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym upd(14)mat LEXMATCH -MONDO:0019916 maternal uniparental disomy of chromosome 16 skos:exactMatch Orphanet:96185 Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 16 LEXMATCH -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 20 LEXMATCH -MONDO:0019918 maternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96187 Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 21 LEXMATCH -MONDO:0019919 maternal uniparental disomy of chromosome 22 skos:exactMatch Orphanet:96188 Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 22 LEXMATCH -MONDO:0019920 paternal uniparental disomy of chromosome 5 skos:exactMatch Orphanet:96190 Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 5 LEXMATCH -MONDO:0019921 paternal uniparental disomy of chromosome 6 skos:exactMatch Orphanet:96191 Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 6 LEXMATCH -MONDO:0019922 paternal uniparental disomy of chromosome 7 skos:exactMatch Orphanet:96192 Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 7 LEXMATCH -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 skos:exactMatch Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 LEXMATCH -MONDO:0019924 paternal uniparental disomy of chromosome 20 skos:exactMatch Orphanet:96194 Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 20 LEXMATCH -MONDO:0019925 paternal uniparental disomy of chromosome 21 skos:exactMatch Orphanet:96195 Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 21 LEXMATCH -MONDO:0019926 X small rings skos:exactMatch Orphanet:96201 X small rings semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x small rings LEXMATCH -MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym somatotropinoma LEXMATCH -MONDO:0019928 48,XXXY syndrome skos:exactMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xxxy syndrome LEXMATCH -MONDO:0019929 49,XXXXY syndrome skos:exactMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome LEXMATCH -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance skos:exactMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia due to complete lh resistance LEXMATCH -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance skos:exactMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia due to partial lh resistance LEXMATCH -MONDO:0019932 isolated partial vaginal agenesis skos:exactMatch Orphanet:96269 Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated partial vaginal agenesis LEXMATCH -MONDO:0019933 acromegaly skos:exactMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromegaly LEXMATCH -MONDO:0019934 polyploidy skos:exactMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy LEXMATCH -MONDO:0019935 isochromosome Y skos:exactMatch Orphanet:96325 Isochromosome Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosome y LEXMATCH -MONDO:0019938 anorectal malformation skos:exactMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorectal malformation LEXMATCH -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 skos:exactMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 2 LEXMATCH -MONDO:0019942 distal arthrogryposis skos:exactMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis LEXMATCH -MONDO:0019943 hereditary continuous muscle fiber activity skos:exactMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary continuous muscle fiber activity LEXMATCH -MONDO:0019944 Eisenmenger syndrome skos:exactMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eisenmenger syndrome LEXMATCH -MONDO:0019945 solar urticaria skos:exactMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria LEXMATCH -MONDO:0019948 reducing body myopathy skos:exactMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reducing body myopathy LEXMATCH -MONDO:0019949 zebra body myopathy skos:exactMatch Orphanet:97240 Zebra body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zebra body myopathy LEXMATCH -MONDO:0019950 congenital muscular dystrophy skos:exactMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy LEXMATCH -MONDO:0019951 rigid spine syndrome skos:exactMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rigid spine syndrome LEXMATCH -MONDO:0019952 congenital myopathy skos:exactMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy LEXMATCH -MONDO:0019953 mega-cisterna magna skos:exactMatch Orphanet:97252 Mega-cisterna magna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mega-cisterna magna LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic net LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic neuroendocrine tumor LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated nen of pancreas LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated neuroendocrine neoplasm of pancreas LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated pancreatic nen LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated pancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0019954 pancreatic neuroendocrine tumor skos:exactMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic neuroendocrine tumor LEXMATCH -MONDO:0019955 GRFoma skos:exactMatch Orphanet:97261 GRFoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grfoma LEXMATCH -MONDO:0019956 encephalitis skos:exactMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalitis LEXMATCH -MONDO:0019957 PPoma skos:exactMatch Orphanet:97278 PPoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ppoma LEXMATCH -MONDO:0019959 glucagonoma skos:exactMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucagonoma LEXMATCH -MONDO:0019960 VIPoma skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vipoma LEXMATCH -MONDO:0019962 thyroid lymphoma skos:exactMatch Orphanet:97285 Thyroid lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid lymphoma LEXMATCH -MONDO:0019963 bronchial endocrine tumor skos:exactMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchial net LEXMATCH -MONDO:0019964 thymic neuroendocrine tumor skos:exactMatch Orphanet:97289 Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor LEXMATCH -MONDO:0019967 Kienbock disease skos:exactMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kienbock disease LEXMATCH -MONDO:0019969 panner disease skos:exactMatch Orphanet:97336 Panner disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panner disease LEXMATCH -MONDO:0019970 Sinding-Larsen-Johansson disease skos:exactMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinding-larsen-johansson disease LEXMATCH -MONDO:0019971 melanoma of soft tissue skos:exactMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma of soft tissue LEXMATCH -MONDO:0019972 dural sinus malformation skos:exactMatch Orphanet:97339 Dural sinus malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dural sinus malformation LEXMATCH -MONDO:0019973 persistent placoid maculopathy skos:exactMatch Orphanet:97341 Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent placoid maculopathy LEXMATCH -MONDO:0019975 pellagra skos:exactMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pellagra LEXMATCH -MONDO:0019976 dementia pugilistica skos:exactMatch Orphanet:97353 Dementia pugilistica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dementia pugilistica LEXMATCH -MONDO:0019978 Robinow syndrome skos:exactMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robinow syndrome LEXMATCH -MONDO:0019979 renal hypoplasia, unilateral skos:exactMatch Orphanet:97361 Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral LEXMATCH -MONDO:0019980 renal hypoplasia, bilateral skos:exactMatch Orphanet:97362 Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral LEXMATCH -MONDO:0019981 unilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral multicystic dysplastic kidney LEXMATCH -MONDO:0019982 bilateral multicystic dysplastic kidney skos:exactMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral multicystic dysplastic kidney LEXMATCH -MONDO:0019983 multiloculated renal cyst skos:exactMatch Orphanet:97366 Multiloculated renal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiloculated renal cyst LEXMATCH -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion skos:exactMatch Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis due to twin-twin transfusion LEXMATCH -MONDO:0019985 drug-related renal tubular dysgenesis skos:exactMatch Orphanet:97368 Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-related renal tubular dysgenesis LEXMATCH -MONDO:0019988 pauci-immune glomerulonephritis with ANCA skos:exactMatch Orphanet:97563 Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis with anca LEXMATCH -MONDO:0019989 pauci-immune glomerulonephritis without ANCA skos:exactMatch Orphanet:97564 Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis without anca LEXMATCH -MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:exactMatch Orphanet:97566 Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-amyloid fibrillary glomerulopathy LEXMATCH -MONDO:0019991 immunotactoid glomerulopathy skos:exactMatch Orphanet:97567 Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy LEXMATCH -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism LEXMATCH -MONDO:0019993 congenital renal artery stenosis skos:exactMatch Orphanet:97598 Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis LEXMATCH -MONDO:0019994 maternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:97678 Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 13 LEXMATCH -MONDO:0019998 gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroduodenal malformation LEXMATCH -MONDO:0019999 intestinal malformation skos:exactMatch Orphanet:97945 Intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal malformation LEXMATCH -MONDO:0020001 respiratory or thoracic malformation skos:exactMatch Orphanet:97957 Respiratory or thoracic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory or thoracic malformation LEXMATCH -MONDO:0020007 absence of the pulmonary artery skos:exactMatch Orphanet:980 Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of the pulmonary artery LEXMATCH -MONDO:0020018 cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranial malformation LEXMATCH -MONDO:0020019 digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive tract malformation LEXMATCH -MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral malformation of the liver, biliary tract, pancreas or spleen LEXMATCH -MONDO:0020022 central nervous system malformation skos:exactMatch Orphanet:98044 Central nervous system malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system malformation LEXMATCH -MONDO:0020023 respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory or mediastinal malformation LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:exactMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd LEXMATCH -MONDO:0020040 46,XY disorder of sex development skos:exactMatch Orphanet:98085 46,XY difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development LEXMATCH -MONDO:0020043 autosomal recessive congenital cerebellar ataxia skos:exactMatch Orphanet:98095 Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive congenital cerebellar ataxia LEXMATCH -MONDO:0020044 autosomal recessive metabolic cerebellar ataxia skos:exactMatch Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive metabolic cerebellar ataxia LEXMATCH -MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia skos:exactMatch Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive degenerative and progressive cerebellar ataxia LEXMATCH -MONDO:0020047 autosomal recessive syndromic cerebellar ataxia skos:exactMatch Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive syndromic cerebellar ataxia LEXMATCH -MONDO:0020049 autosomal anomaly skos:exactMatch Orphanet:98127 Autosomal anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal anomaly LEXMATCH -MONDO:0020058 gonosome anomaly skos:exactMatch Orphanet:98155 Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sex-chromosome anomaly LEXMATCH -MONDO:0020064 pulmonary valve agenesis skos:exactMatch Orphanet:982 Pulmonary valve agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve agenesis LEXMATCH -MONDO:0020065 combined dystonia skos:exactMatch Orphanet:98203 Combined dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined dystonia LEXMATCH -MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome LEXMATCH -MONDO:0020067 infectious encephalitis skos:exactMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious encephalitis LEXMATCH -MONDO:0020070 neonatal epilepsy syndrome skos:exactMatch Orphanet:98257 Neonatal epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal epilepsy syndrome LEXMATCH -MONDO:0020071 infantile epilepsy syndrome skos:exactMatch Orphanet:98258 Infantile epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile epilepsy syndrome LEXMATCH -MONDO:0020072 childhood-onset epilepsy syndrome skos:exactMatch Orphanet:98259 Childhood-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset epilepsy syndrome LEXMATCH -MONDO:0020073 adolescent-onset epilepsy syndrome skos:exactMatch Orphanet:98260 Adolescent-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adolescent-onset epilepsy syndrome LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonus epilepsy LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive myoclonic epilepsy LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive myoclonus epilepsy LEXMATCH -MONDO:0020075 hereditary non-syndromic obesity skos:exactMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic non-syndromic obesity LEXMATCH -MONDO:0020076 myeloproliferative neoplasm skos:exactMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloproliferative neoplasm LEXMATCH -MONDO:0020077 myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelodysplastic/myeloproliferative disease LEXMATCH -MONDO:0020082 dendritic cell tumor skos:exactMatch Orphanet:98289 Dendritic cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell tumor LEXMATCH -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease skos:exactMatch Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency-associated lymphoproliferative disease LEXMATCH -MONDO:0020087 hereditary lipodystrophy skos:exactMatch Orphanet:98305 Genetic lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic lipodystrophy LEXMATCH -MONDO:0020088 familial partial lipodystrophy skos:exactMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial lipodystrophy LEXMATCH -MONDO:0020089 acquired lipodystrophy skos:exactMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired lipodystrophy LEXMATCH -MONDO:0020099 inherited sideroblastic anemia skos:exactMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constitutional sideroblastic anemia LEXMATCH -MONDO:0020102 hereditary stomatocytosis skos:exactMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary stomatocytosis LEXMATCH -MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia LEXMATCH -MONDO:0020110 pulmonary agenesis skos:exactMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary agenesis LEXMATCH -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia skos:exactMatch Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12- and folate-independent constitutional megaloblastic anemia LEXMATCH -MONDO:0020113 primary acquired red cell aplasia skos:exactMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary acquired red cell aplasia LEXMATCH -MONDO:0020115 secondary polycythemia skos:exactMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polycythemia LEXMATCH -MONDO:0020117 alpha granule disease skos:exactMatch Orphanet:98455 Alpha granule disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha granule disease LEXMATCH -MONDO:0020121 muscular dystrophy skos:exactMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy LEXMATCH -MONDO:0020122 acquired idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic inflammatory myositis LEXMATCH -MONDO:0020123 metabolic myopathy skos:exactMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic myopathy LEXMATCH -MONDO:0020124 neuromuscular junction disease skos:exactMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromuscular junction disease LEXMATCH -MONDO:0020127 hereditary peripheral neuropathy skos:exactMatch Orphanet:98497 Genetic peripheral neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic peripheral neuropathy LEXMATCH -MONDO:0020128 motor neuron disorder skos:exactMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior horn cell disease LEXMATCH -MONDO:0020128 motor neuron disorder skos:exactMatch Orphanet:98503 Motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motor neuron disease LEXMATCH -MONDO:0020129 acquired motor neuron disease skos:exactMatch Orphanet:98506 Acquired motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired motor neuron disease LEXMATCH -MONDO:0020135 pontocerebellar hypoplasia skos:exactMatch Orphanet:98523 Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pontoneocerebellar atrophy LEXMATCH -MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch Orphanet:98544 Cerebral lipidosis with dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral lipidosis with dementia LEXMATCH -MONDO:0020153 cryptophthalmia skos:exactMatch Orphanet:98562 Cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptophthalmia LEXMATCH -MONDO:0020161 congenital ectropion skos:exactMatch Orphanet:98570 Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion LEXMATCH -MONDO:0020212 superficial corneal dystrophy skos:exactMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial corneal dystrophy LEXMATCH -MONDO:0020213 stromal corneal dystrophy skos:exactMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stromal corneal dystrophy LEXMATCH -MONDO:0020214 posterior corneal dystrophy skos:exactMatch Orphanet:98627 Posterior corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior corneal dystrophy LEXMATCH -MONDO:0020249 hereditary optic neuropathy skos:exactMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary optic neuropathy LEXMATCH -MONDO:0020250 autosomal dominant optic atrophy skos:exactMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy LEXMATCH -MONDO:0020257 supranuclear oculomotor palsy skos:exactMatch Orphanet:98687 Supranuclear eye movement disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supranuclear eye movement disorder LEXMATCH -MONDO:0020283 uveitis skos:exactMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveitis LEXMATCH -MONDO:0020289 congenital tricuspid malformation skos:exactMatch Orphanet:98721 Congenital tricuspid malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid malformation LEXMATCH -MONDO:0020291 hypoplastic right heart syndrome skos:exactMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome LEXMATCH -MONDO:0020292 congenital anomaly of the great arteries skos:exactMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of the great arteries LEXMATCH -MONDO:0020295 congenital pulmonary veins anomaly skos:exactMatch Orphanet:98729 Congenital pulmonary veins anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary veins anomaly LEXMATCH -MONDO:0020296 congenital arteriovenous fistula skos:exactMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital arteriovenous fistula LEXMATCH -MONDO:0020297 Noonan syndrome and Noonan-related syndrome skos:exactMatch Orphanet:98733 Noonan syndrome and Noonan-related syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome and noonan-related syndrome LEXMATCH -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to maternal uniparental disomy of chromosome 15 LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant nocturnal frontal lobe epilepsy LEXMATCH -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion skos:exactMatch Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal 15q11q13 deletion LEXMATCH -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion skos:exactMatch Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to maternal 15q11q13 deletion LEXMATCH -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 skos:exactMatch Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to paternal uniparental disomy of chromosome 15 LEXMATCH -MONDO:0020304 isochromosomy Yp skos:exactMatch Orphanet:98797 Isochromosomy Yp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosomy yp LEXMATCH -MONDO:0020305 isochromosomy Yq skos:exactMatch Orphanet:98798 Isochromosomy Yq semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosomy yq LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:exactMatch Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign childhood occipital epilepsy, panayiotopoulos type LEXMATCH -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type skos:exactMatch Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign childhood occipital epilepsy, gastaut type LEXMATCH -MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial focal epilepsy with variable foci LEXMATCH -MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelomonocytic leukemia LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:exactMatch Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) LEXMATCH -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with 11q23 abnormalities LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch Orphanet:98834 Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloblastic leukemia with maturation LEXMATCH -MONDO:0020321 acute undifferentiated leukemia skos:exactMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute undifferentiated leukemia LEXMATCH -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:exactMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary mediastinal large b-cell lymphoma LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma LEXMATCH -MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic large cell lymphoma LEXMATCH -MONDO:0020326 lymphomatoid papulosis skos:exactMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid papulosis LEXMATCH -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type skos:exactMatch Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic hodgkin lymphoma, nodular sclerosis type LEXMATCH -MONDO:0020331 indolent systemic mastocytosis skos:exactMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent systemic mastocytosis LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label systemic mastocytosis with associated hematologic neoplasm LEXMATCH -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease skos:exactMatch Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease LEXMATCH -MONDO:0020333 aggressive systemic mastocytosis skos:exactMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive systemic mastocytosis LEXMATCH -MONDO:0020334 mast cell leukemia skos:exactMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell leukemia LEXMATCH -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant emery-dreifuss muscular dystrophy LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda i LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 1 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type i LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 1 LEXMATCH -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 1 LEXMATCH -MONDO:0020340 bilateral perisylvian polymicrogyria skos:exactMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral perisylvian polymicrogyria LEXMATCH -MONDO:0020341 periventricular nodular heterotopia skos:exactMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periventricular nodular heterotopia LEXMATCH -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy skos:exactMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute inflammatory demyelinating polyradiculoneuropathy LEXMATCH -MONDO:0020348 acute motor and sensory axonal neuropathy skos:exactMatch Orphanet:98917 Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute motor and sensory axonal neuropathy LEXMATCH -MONDO:0020349 acute motor axonal neuropathy skos:exactMatch Orphanet:98918 Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute motor axonal neuropathy LEXMATCH -MONDO:0020351 Blake pouch cyst skos:exactMatch Orphanet:98922 Blake pouch cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blake pouch cyst LEXMATCH -MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch Orphanet:98933 Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy, parkinsonian type LEXMATCH -MONDO:0020354 coloboma of choroid and retina skos:exactMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of choroid and retina LEXMATCH -MONDO:0020355 coloboma of eye lens skos:exactMatch Orphanet:98943 Coloboma of eye lens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of eye lens LEXMATCH -MONDO:0020356 coloboma of iris skos:exactMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris LEXMATCH -MONDO:0020357 coloboma of eyelid skos:exactMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of eyelid LEXMATCH -MONDO:0020359 congenital symblepharon skos:exactMatch Orphanet:98948 Congenital symblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital symblepharon LEXMATCH -MONDO:0020360 complete cryptophthalmia skos:exactMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete cryptophthalmia LEXMATCH -MONDO:0020361 partial cryptophthalmia skos:exactMatch Orphanet:98950 Partial cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial cryptophthalmia LEXMATCH -MONDO:0020362 inverse Marcus-Gunn phenomenon skos:exactMatch Orphanet:98951 Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inverse marcus-gunn phenomenon LEXMATCH -MONDO:0020363 honey-droplet corneal dystrophy skos:exactMatch Orphanet:98958 Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym honey-droplet corneal dystrophy LEXMATCH -MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior polymorphous corneal dystrophy LEXMATCH -MONDO:0020365 congenital hereditary endothelial dystrophy type I skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hereditary endothelial dystrophy type i LEXMATCH -MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma LEXMATCH -MONDO:0020367 juvenile open angle glaucoma skos:exactMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile glaucoma LEXMATCH -MONDO:0020368 Axenfeld anomaly skos:exactMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld anomaly LEXMATCH -MONDO:0020369 Chandler syndrome skos:exactMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chandler syndrome LEXMATCH -MONDO:0020370 Cogan-Reese syndrome skos:exactMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cogan-reese syndrome LEXMATCH -MONDO:0020371 essential iris atrophy skos:exactMatch Orphanet:98981 Essential iris atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential iris atrophy LEXMATCH -MONDO:0020372 early-onset sutural cataract skos:exactMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset sutural cataract LEXMATCH -MONDO:0020373 early-onset anterior polar cataract skos:exactMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset anterior polar cataract LEXMATCH -MONDO:0020374 cerulean cataract skos:exactMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerulean cataract LEXMATCH -MONDO:0020376 early-onset nuclear cataract skos:exactMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset nuclear cataract LEXMATCH -MONDO:0020377 early-onset partial cataract skos:exactMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset partial cataract LEXMATCH -MONDO:0020378 early-onset posterior polar cataract skos:exactMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset posterior polar cataract LEXMATCH -MONDO:0020379 early-onset zonular cataract skos:exactMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset zonular cataract LEXMATCH -MONDO:0020380 autosomal dominant cerebellar ataxia skos:exactMatch Orphanet:99 Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia LEXMATCH -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus skos:exactMatch Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal pattern dystrophy simulating fundus flavimaculatus LEXMATCH -MONDO:0020383 fundus pulverulentus skos:exactMatch Orphanet:99004 Fundus pulverulentus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fundus pulverulentus LEXMATCH -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally uncorrected transposition of the great arteries with coarctation LEXMATCH -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis skos:exactMatch Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis LEXMATCH -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect skos:exactMatch Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subpulmonary ventricular septal defect LEXMATCH -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect skos:exactMatch Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with non-committed subpulmonary ventricular septal defect LEXMATCH -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:exactMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apv/pda, non-fallot type LEXMATCH -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus skos:exactMatch Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary artery coming from patent ductus arteriosus LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemitruncus arteriosus LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abnormal origin of right or left pulmonary artery from the aorta LEXMATCH -MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary artery coming from the aorta LEXMATCH -MONDO:0020393 discrete fibromuscular subaortic stenosis skos:exactMatch Orphanet:99052 Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discrete fibromuscular subaortic stenosis LEXMATCH -MONDO:0020394 tunnel subaortic stenosis skos:exactMatch Orphanet:99053 Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tunnel subaortic stenosis LEXMATCH -MONDO:0020397 parachute tricuspid valve skos:exactMatch Orphanet:99056 Parachute tricuspid valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parachute tricuspid valve LEXMATCH -MONDO:0020398 congenital mitral stenosis skos:exactMatch Orphanet:99057 Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis LEXMATCH -MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch Orphanet:99059 Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital supravalvular mitral ring LEXMATCH -MONDO:0020401 congenital unguarded mitral orifice skos:exactMatch Orphanet:99060 Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital unguarded mitral orifice LEXMATCH -MONDO:0020404 shone complex skos:exactMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shone complex LEXMATCH -MONDO:0020405 straddling and/or overriding mitral valve skos:exactMatch Orphanet:99064 Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label straddling and/or overriding mitral valve LEXMATCH -MONDO:0020410 aorto-right ventricular tunnel skos:exactMatch Orphanet:99070 Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-right ventricular tunnel LEXMATCH -MONDO:0020411 aorto-left ventricular tunnel skos:exactMatch Orphanet:99071 Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-left ventricular tunnel LEXMATCH -MONDO:0020412 congenital patent ductus arteriosus aneurysm skos:exactMatch Orphanet:99072 Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital patent ductus arteriosus aneurysm LEXMATCH -MONDO:0020413 encircling double aortic arch skos:exactMatch Orphanet:99075 Encircling double aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encircling double aortic arch LEXMATCH -MONDO:0020414 persistent fifth aortic arch skos:exactMatch Orphanet:99076 Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent fifth aortic arch LEXMATCH -MONDO:0020415 Kommerell diverticulum skos:exactMatch Orphanet:99077 Kommerell diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kommerell diverticulum LEXMATCH -MONDO:0020416 Neuhauser anomaly skos:exactMatch Orphanet:99078 Neuhauser anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuhauser anomaly LEXMATCH -MONDO:0020417 right aortic arch skos:exactMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right aortic arch LEXMATCH -MONDO:0020418 dysphagia lusoria skos:exactMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysphagia lusoria LEXMATCH -MONDO:0020419 pulmonary artery hypoplasia skos:exactMatch Orphanet:99083 Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary artery hypoplasia LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:exactMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branch pulmonary artery stenosis LEXMATCH -MONDO:0020420 pulmonary branch stenosis skos:exactMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary branch stenosis LEXMATCH -MONDO:0020423 stenosis or atrophy of the coronary ostium skos:exactMatch Orphanet:99087 Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary ostial stenosis or atresia LEXMATCH -MONDO:0020425 abnormal number of coronary ostia skos:exactMatch Orphanet:99089 Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abnormal number of coronary ostia LEXMATCH -MONDO:0020427 Laubry-Pezzi syndrome skos:exactMatch Orphanet:99094 Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laubry-pezzi syndrome LEXMATCH -MONDO:0020428 congenital Gerbode defect skos:exactMatch Orphanet:99095 Congenital Gerbode defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital gerbode defect LEXMATCH -MONDO:0020429 cor triatriatum dexter skos:exactMatch Orphanet:99098 Cor triatriatum dexter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor triatriatum dexter LEXMATCH -MONDO:0020430 cor triatriatum sinister skos:exactMatch Orphanet:99099 Cor triatriatum sinister semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor triatriatum sinister LEXMATCH -MONDO:0020431 juxtaposition of the atrial appendages skos:exactMatch Orphanet:99100 Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juxtaposition of the atrial appendages LEXMATCH -MONDO:0020432 ectasia of the right atrial appendage skos:exactMatch Orphanet:99101 Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectasia of the right atrial appendage LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:exactMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dilatation of the left atrial appendage LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:exactMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dilatation of the left auricle LEXMATCH -MONDO:0020433 ectasia of the left appendage skos:exactMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectasia of the left auricle LEXMATCH -MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, ostium secundum type LEXMATCH -MONDO:0020435 atrial septal defect, coronary sinus type skos:exactMatch Orphanet:99104 Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, coronary sinus type LEXMATCH -MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, sinus venosus type LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial atrioventricular septal defect LEXMATCH -MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, ostium primum type LEXMATCH -MONDO:0020438 atrial septal aneurysm skos:exactMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal aneurysm LEXMATCH -MONDO:0020441 right superior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99110 Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right superior vena cava connecting to left-sided atrium LEXMATCH -MONDO:0020443 absence of innominate vein skos:exactMatch Orphanet:99112 Absence of innominate vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of innominate vein LEXMATCH -MONDO:0020444 subaortic course of innominate vein skos:exactMatch Orphanet:99113 Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subaortic course of innominate vein LEXMATCH -MONDO:0020445 agenesis of the superior vena cava skos:exactMatch Orphanet:99114 Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agenesis of the superior vena cava LEXMATCH -MONDO:0020446 coronary sinus stenosis skos:exactMatch Orphanet:99117 Coronary sinus stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary sinus stenosis LEXMATCH -MONDO:0020447 coronary sinus atresia skos:exactMatch Orphanet:99118 Coronary sinus atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary sinus atresia LEXMATCH -MONDO:0020448 right inferior vena cava connecting to left-sided atrium skos:exactMatch Orphanet:99119 Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right inferior vena cava connecting to left-sided atrium LEXMATCH -MONDO:0020449 persistent eustachian valve skos:exactMatch Orphanet:99120 Persistent eustachian valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent eustachian valve LEXMATCH -MONDO:0020450 azygos continuation of the inferior vena cava skos:exactMatch Orphanet:99121 Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label azygos continuation of the inferior vena cava LEXMATCH -MONDO:0020451 congenital stenosis of the inferior vena cava skos:exactMatch Orphanet:99122 Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stenosis of the inferior vena cava LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:exactMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inferior caval vein interruption LEXMATCH -MONDO:0020452 inferior vena cava interruption skos:exactMatch Orphanet:99123 Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ivc interruption LEXMATCH -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch Orphanet:99124 Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital partial pulmonary venous return anomaly LEXMATCH -MONDO:0020454 congenital complete agenesis of pericardium skos:exactMatch Orphanet:99129 Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital complete agenesis of pericardium LEXMATCH -MONDO:0020455 congenital partial agenesis of pericardium skos:exactMatch Orphanet:99130 Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital partial agenesis of pericardium LEXMATCH -MONDO:0020456 pleuro-pericardial cyst skos:exactMatch Orphanet:99131 Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuro-pericardial cyst LEXMATCH -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:exactMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6-phosphogluconate dehydrogenase deficiency LEXMATCH -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction skos:exactMatch Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to erythrocyte adenosine deaminase overproduction LEXMATCH -MONDO:0020459 unstable hemoglobin disease skos:exactMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unstable hemoglobin disease LEXMATCH -MONDO:0020460 acquired von willebrand syndrome skos:exactMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired von willebrand syndrome LEXMATCH -MONDO:0020461 epiblepharon skos:exactMatch Orphanet:99169 Epiblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiblepharon LEXMATCH -MONDO:0020462 tarsal kink syndrome skos:exactMatch Orphanet:99170 Tarsal kink syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal kink syndrome LEXMATCH -MONDO:0020463 isolated congenital ectropion skos:exactMatch Orphanet:99171 Isolated congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital ectropion LEXMATCH -MONDO:0020464 euryblepharon skos:exactMatch Orphanet:99172 Euryblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euryblepharon LEXMATCH -MONDO:0020465 congenital eyelid retraction skos:exactMatch Orphanet:99176 Congenital eyelid retraction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital eyelid retraction LEXMATCH -MONDO:0020466 monosomy X skos:exactMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy x LEXMATCH -MONDO:0020467 mosaic monosomy X skos:exactMatch Orphanet:99228 Mosaic monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic monosomy x LEXMATCH -MONDO:0020468 paternal uniparental disomy of chromosome 13 skos:exactMatch Orphanet:99324 Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 13 LEXMATCH -MONDO:0020469 48,XYYY syndrome skos:exactMatch Orphanet:99329 48,XYYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xyyy syndrome LEXMATCH -MONDO:0020470 49,XYYYY syndrome skos:exactMatch Orphanet:99330 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xyyyy syndrome LEXMATCH -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies skos:exactMatch Orphanet:99413 Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome due to structural x chromosome anomalies LEXMATCH -MONDO:0020474 cheirospondyloenchondromatosis skos:exactMatch Orphanet:99647 Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cheirospondyloenchondromatosis LEXMATCH -MONDO:0020475 dermotrichic syndrome skos:exactMatch Orphanet:99688 Dermotrichic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermotrichic syndrome LEXMATCH -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesial temporal lobe epilepsy with hippocampal sclerosis LEXMATCH -MONDO:0020478 Leber plus disease skos:exactMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber plus disease LEXMATCH -MONDO:0020479 pituitary gigantism skos:exactMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary gigantism LEXMATCH -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:exactMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency LEXMATCH -MONDO:0020481 myotonia fluctuans skos:exactMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonia fluctuans LEXMATCH -MONDO:0020482 myotonia permanens skos:exactMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonia permanens LEXMATCH -MONDO:0020483 acetazolamide-responsive myotonia skos:exactMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acetazolamide-responsive myotonia LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:exactMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label king-denborough syndrome LEXMATCH -MONDO:0020487 Pontiac fever skos:exactMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontiac fever LEXMATCH -MONDO:0020488 atypical progressive supranuclear palsy syndrome skos:exactMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical progressive supranuclear palsy syndrome LEXMATCH -MONDO:0020490 mosaic trisomy 9 skos:exactMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 9 LEXMATCH -MONDO:0020491 subcortical band heterotopia skos:exactMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcortical band heterotopia LEXMATCH -MONDO:0020492 hemimegalencephaly skos:exactMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly LEXMATCH -MONDO:0020493 Haddad syndrome skos:exactMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haddad syndrome LEXMATCH -MONDO:0020494 oculootodental syndrome skos:exactMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculootodental syndrome LEXMATCH -MONDO:0020495 PEHO-like syndrome skos:exactMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peho-like syndrome LEXMATCH -MONDO:0020496 familial porencephaly skos:exactMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial porencephaly LEXMATCH -MONDO:0020497 Turcot syndrome with polyposis skos:exactMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turcot syndrome with polyposis LEXMATCH -MONDO:0020499 Nipah virus disease skos:exactMatch Orphanet:99825 Nipah virus disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nipah virus disease LEXMATCH -MONDO:0020500 Marburg hemorrhagic fever skos:exactMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marburg hemorrhagic fever LEXMATCH -MONDO:0020501 Crimean-Congo hemorrhagic fever skos:exactMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crimean-congo hemorrhagic fever LEXMATCH -MONDO:0020502 yellow fever skos:exactMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever LEXMATCH -MONDO:0020504 hereditary recurrent myoglobinuria skos:exactMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic recurrent myoglobinuria LEXMATCH -MONDO:0020505 ravine syndrome skos:exactMatch Orphanet:99852 Ravine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ravine syndrome LEXMATCH -MONDO:0020508 primary syringomyelia skos:exactMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary syringomyelia LEXMATCH -MONDO:0020509 secondary syringomyelia skos:exactMatch Orphanet:99857 Secondary syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary syringomyelia LEXMATCH -MONDO:0020510 idiopathic syringomyelia skos:exactMatch Orphanet:99858 Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic syringomyelia LEXMATCH -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precursor b-cell acute lymphoblastic leukemia LEXMATCH -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precursor t-cell acute lymphoblastic leukemia LEXMATCH -MONDO:0020513 spermatocytic seminoma skos:exactMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocytic seminoma LEXMATCH -MONDO:0020516 thymic neuroendocrine carcinoma skos:exactMatch Orphanet:99869 Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma LEXMATCH -MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus LEXMATCH -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome skos:exactMatch Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia in down syndrome LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenocorticotropic hormone secretion syndrome LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectopic acth secreting tumor LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectopic cushing syndrome LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym occult ectopic acth secretion LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paraneoplastic cushing syndrome LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cushing syndrome due to ectopic acth secretion LEXMATCH -MONDO:0020527 ectopic Cushing syndrome skos:exactMatch Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ectopic cushing syndrome LEXMATCH -MONDO:0020528 ACTH-dependent Cushing syndrome skos:exactMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acth-dependent cushing syndrome LEXMATCH +MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019589 obsolete syndromic genetic hearing loss skos:exactMatch Orphanet:90642 Syndromic genetic deafness semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019718 obsolete lethal chondrodysplasia skos:exactMatch Orphanet:93465 Lethal chondrodysplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 Chronic hepatic porphyria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020031 obsolete rare tumor skos:exactMatch Orphanet:98057 Rare tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020050 obsolete autosomal trisomy skos:exactMatch Orphanet:98130 Autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020215 obsolete syndromic corneal dystrophy skos:exactMatch Orphanet:98628 Syndromic corneal dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0020529 ACTH-independent Cushing syndrome skos:exactMatch Orphanet:647758 Adrenal Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal cushing syndrome LEXMATCH -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:exactMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency LEXMATCH -MONDO:0020532 spirillary rat-bite fever skos:exactMatch Orphanet:99903 Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spirillary rat-bite fever LEXMATCH -MONDO:0020533 streptobacillary rat-bite fever skos:exactMatch Orphanet:99905 Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptobacillary rat-bite fever LEXMATCH -MONDO:0020535 house allergic alveolitis skos:exactMatch Orphanet:99907 House allergic alveolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label house allergic alveolitis LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysgerminomatous germ cell cancer of the ovary LEXMATCH -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:exactMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant ovarian dysgerminoma LEXMATCH -MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor skos:exactMatch Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal non-dysgerminomatous germ cell tumor LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulosa cell cancer LEXMATCH -MONDO:0020541 maligant granulosa cell tumor of ovary skos:exactMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulosa cell malignant tumor LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant sertoli-leydig cell tumor LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian sertoli-leydig cell cancer LEXMATCH -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym virilizing ovarian tumor LEXMATCH -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified skos:exactMatch Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label theca steroid-producing cell malignant tumor of ovary, not further specified LEXMATCH -MONDO:0020544 streptococcal toxic-shock syndrome skos:exactMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal toxic-shock syndrome LEXMATCH -MONDO:0020545 staphylococcal toxic-shock syndrome skos:exactMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal toxic-shock syndrome LEXMATCH -MONDO:0020546 acute graft versus host disease skos:exactMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute graft versus host disease LEXMATCH -MONDO:0020547 chronic graft versus host disease skos:exactMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic graft versus host disease LEXMATCH -MONDO:0020549 invasive hydatidiform mole skos:exactMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label invasive mole LEXMATCH -MONDO:0020550 gestational choriocarcinoma skos:exactMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational choriocarcinoma LEXMATCH -MONDO:0020552 placental site trophoblastic tumor skos:exactMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placental site trophoblastic tumor LEXMATCH -MONDO:0020553 secondary pulmonary hemosiderosis skos:exactMatch Orphanet:99930 Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary pulmonary hemosiderosis LEXMATCH -MONDO:0020554 Heiner syndrome skos:exactMatch Orphanet:99932 Heiner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heiner syndrome LEXMATCH -MONDO:0020555 pleuropulmonary blastoma type 1 skos:exactMatch Orphanet:99933 Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 1 LEXMATCH -MONDO:0020556 pleuropulmonary blastoma type 2 skos:exactMatch Orphanet:99934 Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 2 LEXMATCH -MONDO:0020557 pleuropulmonary blastoma type 3 skos:exactMatch Orphanet:99935 Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 3 LEXMATCH -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:exactMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2k LEXMATCH -MONDO:0020559 O'Sullivan-McLeod syndrome skos:exactMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label o'sullivan-mcleod syndrome LEXMATCH -MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical teratoid rhabdoid tumor LEXMATCH -MONDO:0020561 myxoid/round cell liposarcoma skos:exactMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxoid/round cell liposarcoma LEXMATCH -MONDO:0020562 pleomorphic liposarcoma skos:exactMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic liposarcoma LEXMATCH -MONDO:0020563 Dedifferentiated liposarcoma skos:exactMatch Orphanet:99970 Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated liposarcoma LEXMATCH -MONDO:0020567 apnea of prematurity skos:exactMatch Orphanet:99981 Apnea of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apnea of prematurity LEXMATCH -MONDO:0020568 cutaneous myiasis skos:exactMatch Orphanet:99983 Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis LEXMATCH -MONDO:0020569 intermediate DEND syndrome skos:exactMatch Orphanet:99989 Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate dend syndrome LEXMATCH -MONDO:0020571 relapsing epidemic typhus skos:exactMatch Orphanet:99991 Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing epidemic typhus LEXMATCH -MONDO:0020572 complex regional pain syndrome type 2 skos:exactMatch Orphanet:99994 Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome type 2 LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 LEXMATCH -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conradi-hünermann-happle syndrome LEXMATCH -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked chondrodysplasia punctata type 2 LEXMATCH -MONDO:0020640 autoimmune encephalitis skos:exactMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis LEXMATCH -MONDO:0020659 upper tract urothelial carcinoma skos:exactMatch Orphanet:598216 Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper tract urothelial carcinoma LEXMATCH -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to liver phosphorylase kinase deficiency LEXMATCH -MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epidermolytic ichthyosis LEXMATCH -MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets LEXMATCH -MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets LEXMATCH -MONDO:0020721 X-linked sideroblastic anemia 1 skos:exactMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked sideroblastic anemia LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adtkd-muc1 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary cystic kidney disease type 1 LEXMATCH -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:exactMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muci-related adtkd LEXMATCH -MONDO:0020732 progeria skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria LEXMATCH -MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia LEXMATCH -MONDO:0020774 Menke-Hennekam syndrome skos:exactMatch Orphanet:592574 Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menke-hennekam syndrome LEXMATCH -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:exactMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nad(p)hx epimerase deficiency LEXMATCH -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:exactMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkes weber syndrome LEXMATCH -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome skos:exactMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertebral-cardiac-renal anomalies syndrome LEXMATCH -MONDO:0021001 hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symptomatic form of hemochromatosis type 1 LEXMATCH -MONDO:0021005 faciodigitogenital syndrome skos:exactMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome LEXMATCH -MONDO:0021019 X-linked recessive ocular albinism skos:exactMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked recessive ocular albinism LEXMATCH -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:exactMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome type 1 LEXMATCH -MONDO:0021022 hereditary hyperekplexia skos:exactMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hyperekplexia LEXMATCH -MONDO:0021023 complete androgen insensitivity syndrome skos:exactMatch Orphanet:99429 Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete androgen insensitivity syndrome LEXMATCH -MONDO:0021026 hereditary epidermal appendage anomaly skos:exactMatch Orphanet:183447 Genetic epidermal appendage anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic epidermal appendage anomaly LEXMATCH -MONDO:0021029 hereditary sebaceous gland anomaly skos:exactMatch Orphanet:183460 Genetic sebaceous gland anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic sebaceous gland anomaly LEXMATCH -MONDO:0021042 glioma skos:exactMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioma LEXMATCH -MONDO:0021042 glioma skos:exactMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glial tumor LEXMATCH -MONDO:0021042 glioma skos:exactMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glioma LEXMATCH -MONDO:0021047 breast phyllodes tumor skos:exactMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the breast LEXMATCH -MONDO:0021054 bone sarcoma skos:exactMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone sarcoma LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colorectal adenomatous polyposis LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polyposis coli LEXMATCH -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial adenomatous polyposis LEXMATCH -MONDO:0021060 RASopathy skos:exactMatch Orphanet:536391 RASopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasopathy LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anti-nmda receptor encephalitis LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with n-methyl-d-aspartate receptor antibodies LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with nmda receptor antibodies LEXMATCH -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch Orphanet:217253 NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anti-nmda receptor encephalitis LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:exactMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystosarcoma phyllodes of the prostate LEXMATCH -MONDO:0021102 prostate phyllodes tumor skos:exactMatch Orphanet:498228 Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the prostate LEXMATCH -MONDO:0021106 laminopathy skos:exactMatch Orphanet:98301 Laminopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laminopathy LEXMATCH -MONDO:0021107 narcolepsy skos:exactMatch Orphanet:619284 Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy LEXMATCH -MONDO:0021133 acquired factor XIII deficiency skos:exactMatch Orphanet:599513 Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xiii deficiency LEXMATCH -MONDO:0021134 acquired factor X deficiency skos:exactMatch Orphanet:599501 Acquired factor X deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor x deficiency LEXMATCH -MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired rippling muscle disease LEXMATCH -MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disease LEXMATCH -MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder LEXMATCH -MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label other dermis disorder LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lqt8 LEXMATCH -MONDO:0021172 Timothy syndrome, atypical type skos:exactMatch Orphanet:595109 Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical timothy syndrome LEXMATCH -MONDO:0021176 autoimmune hepatitis type 2 skos:exactMatch Orphanet:563581 Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis type 2 LEXMATCH -MONDO:0021181 inherited blood coagulation disorder skos:exactMatch Orphanet:183654 Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare genetic coagulation disorder LEXMATCH -MONDO:0021281 cavernous hemangioma of retina skos:exactMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal cavernous hemangioma LEXMATCH -MONDO:0021427 squamous cell carcinoma of lip skos:exactMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the lip LEXMATCH -MONDO:0021548 total early-onset cataract skos:exactMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label total early-onset cataract LEXMATCH -MONDO:0021636 astrocytic tumor skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytic tumor LEXMATCH -MONDO:0021636 astrocytic tumor skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym astrocytic tumor LEXMATCH -MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly LEXMATCH -MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synpolydactyly LEXMATCH -MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndactyly type 2 LEXMATCH -MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym synpolydactyly LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:exactMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disseminated granulomatous dermatophytosis LEXMATCH -MONDO:0021660 deep seated dermatophytosis skos:exactMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deep dermatophytosis LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:exactMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 11q LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:exactMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 11q LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:exactMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of the long arm of chromosome 11 LEXMATCH -MONDO:0022173 chromosome 11q trisomy skos:exactMatch Orphanet:262923 Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 11 LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:exactMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 12p LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:exactMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 12p LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:exactMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 12 LEXMATCH -MONDO:0022174 chromosome 12p deletion skos:exactMatch Orphanet:316244 Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 12 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:exactMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 13q LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:exactMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 13q LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:exactMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of the long arm of chromosome 13 LEXMATCH -MONDO:0022177 chromosome 13q trisomy skos:exactMatch Orphanet:262932 Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 13 LEXMATCH -MONDO:0022410 retinal ciliopathy skos:exactMatch Orphanet:156165 Retinal ciliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal ciliopathy LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:exactMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 17p LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:exactMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 17p LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:exactMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 17 LEXMATCH -MONDO:0022754 chromosome 17p deletion skos:exactMatch Orphanet:261965 Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 17 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:exactMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 1q LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:exactMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 1q LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:exactMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the long arm of chromosome 1 LEXMATCH -MONDO:0022756 chromosome 1q deletion skos:exactMatch Orphanet:262001 Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 1 LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:exactMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 22q LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:exactMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 22q LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:exactMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the long arm of chromosome 22 LEXMATCH -MONDO:0022760 chromosome 22q deletion skos:exactMatch Orphanet:262182 Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 22 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 4p LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 4p LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 4 LEXMATCH -MONDO:0022762 chromosome 4 short arm deletion skos:exactMatch Orphanet:261884 Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 4 LEXMATCH -MONDO:0022825 congenital cystic eye skos:exactMatch Orphanet:519384 Congenital cystic eye semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cystic eye LEXMATCH -MONDO:0022851 Dennis-Fairhurst-Moore syndrome skos:exactMatch Orphanet:2109 Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dennis-fairhurst-moore syndrome LEXMATCH -MONDO:0022953 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym delta-1-pyrroline-5-carboxylate dehydrogenase deficiency LEXMATCH -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia skos:exactMatch Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia LEXMATCH -MONDO:0023122 familial prostate carcinoma skos:exactMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial prostate cancer LEXMATCH -MONDO:0023188 Freiberg disease skos:exactMatch Orphanet:564003 Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym freiberg disease LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning pancreatic net LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning pancreatic neuroendocrine tumor LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning pnet LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated nen of pancreas LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated neuroendocrine neoplasm of pancreas LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated pancreatic nen LEXMATCH -MONDO:0023206 functional pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated pancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graham-boyle-troxell syndrome LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cystic hamartoma of lung and kidney LEXMATCH -MONDO:0023275 Graham-Boyle-Troxell syndrome skos:exactMatch Orphanet:2111 Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graham-boyle-troxell syndrome LEXMATCH -MONDO:0023865 corneal infection skos:exactMatch Orphanet:519278 Infective keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective keratitis LEXMATCH -MONDO:0023880 WHIM syndrome skos:exactMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whim syndrome LEXMATCH -MONDO:0023910 Martsolf syndrome skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome LEXMATCH -MONDO:0024237 inherited neurodegenerative disorder skos:exactMatch Orphanet:183500 Genetic neurodegenerative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic neurodegenerative disease LEXMATCH -MONDO:0024251 Minamata disease skos:exactMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minamata disease LEXMATCH -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome skos:exactMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome LEXMATCH -MONDO:0024257 hereditary motor neuron disease skos:exactMatch Orphanet:98505 Genetic motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic anterior horn cell disease LEXMATCH -MONDO:0024257 hereditary motor neuron disease skos:exactMatch Orphanet:98505 Genetic motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic motor neuron disease LEXMATCH -MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatemic rickets LEXMATCH -MONDO:0024307 prothrombin deficiency skos:exactMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prothrombin deficiency LEXMATCH -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum LEXMATCH -MONDO:0024336 vulvar adenocarcinoma skos:exactMatch Orphanet:494454 Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar adenocarcinoma LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inad LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phospholipase a2-associated neurodegeneration LEXMATCH -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile neuroaxonal dystrophy LEXMATCH -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disease due to surfactant protein c deficiency LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch Orphanet:101334 African tick typhus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label african tick typhus LEXMATCH -MONDO:0024472 boutonneuse fever skos:exactMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label boutonneuse fever LEXMATCH -MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroenteropancreatic neuroendocrine neoplasm LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serotonin-producing pancreatic net LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serotonin-producing pancreatic neuroendocrine tumor LEXMATCH -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:exactMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serotonin-producing pnet LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym detoni-debré-fanconi syndrome LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary fanconi renal syndrome LEXMATCH -MONDO:0024525 Fanconi renotubular syndrome 1 skos:exactMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary fanconi renotubular syndrome LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riboflavin transporter deficiency 2 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rtd2 LEXMATCH -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:exactMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rfvt2-related riboflavin transporter deficiency LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized peeling skin syndrome type b LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory peeling skin syndrome LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome 1 LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pss type b LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type b LEXMATCH -MONDO:0024548 peeling skin syndrome 1 skos:exactMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peeling skin syndrome 1 LEXMATCH -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:exactMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lymphoproliferative disease due to sh2d1a deficiency LEXMATCH -MONDO:0024609 vulvar squamous cell carcinoma skos:exactMatch Orphanet:494448 Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar squamous cell carcinoma LEXMATCH -MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant soft tissue tumor LEXMATCH -MONDO:0024677 pancreatic insulinoma skos:exactMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma LEXMATCH -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmented villonodular synovitis LEXMATCH -MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monkey disease LEXMATCH -MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monkey disease LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy LEXMATCH -MONDO:0025514 livedoid vasculopathy skos:exactMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedoid vasculopathy LEXMATCH -MONDO:0025667 limbal stem cell deficiency skos:exactMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbal stem cell deficiency LEXMATCH -MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-microcolon-intestinal hypoperistalsis syndrome LEXMATCH -MONDO:0026777 VEXAS syndrome skos:exactMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome LEXMATCH -MONDO:0027749 serpinopathy skos:exactMatch Orphanet:250805 Serpinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serpinopathy LEXMATCH -MONDO:0028226 autosomal recessive severe congenital neutropenia skos:exactMatch Orphanet:439849 Autosomal recessive severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia LEXMATCH -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:exactMatch Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laminin subunit alpha 2-related limb-girdle muscular dystrophy r23 LEXMATCH -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome LEXMATCH -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:exactMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liberfarb syndrome LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:exactMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome LEXMATCH -MONDO:0030045 Liberfarb syndrome skos:exactMatch Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liberfarb syndrome LEXMATCH -MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome LEXMATCH -MONDO:0030105 galactosemia 4 skos:exactMatch Orphanet:570422 Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label galactose mutarotase deficiency LEXMATCH -MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome LEXMATCH +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021141 acquired skos:exactMatch Orphanet:409941 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mandibuloacral dysplasia associated to mtx2 LEXMATCH MONDO:0030880 mandibuloacral dysplasia progeroid syndrome skos:exactMatch Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mandibuloacral dysplasia progeroid syndrome LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:exactMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amed syndrome LEXMATCH -MONDO:0030894 AMED syndrome, digenic skos:exactMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aplastic anemia-intellectual disability-dwarfism syndrome LEXMATCH -MONDO:0030898 immunodeficiency 76 skos:exactMatch Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined immunodeficiency due to fcho1 deficiency LEXMATCH -MONDO:0030899 oculocutaneous albinism type 8 skos:exactMatch Orphanet:597733 Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 8 LEXMATCH -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:exactMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome LEXMATCH -MONDO:0030914 Clark-Baraitser syndrome skos:exactMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clark-baraitser syndrome LEXMATCH -MONDO:0031002 Baralle-Macken syndrome skos:exactMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome LEXMATCH -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis skos:exactMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic srns LEXMATCH -MONDO:0031008 nephrotic syndrome, type 24 skos:exactMatch Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic steroid-resistant nephrotic syndrome LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial brain cavernous angioma LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cerebral cavernoma LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary brain cavernous angioma LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cerebral cavernoma LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cerebral cavernous malformation LEXMATCH -MONDO:0031037 famililal cerebral cavernous malformations skos:exactMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial cerebral cavernous malformation LEXMATCH -MONDO:0031169 odontochondrodysplasia skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontochondrodysplasia LEXMATCH -MONDO:0031213 restrictive dermopathy skos:exactMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy LEXMATCH -MONDO:0031257 high altitude pulmonary edema skos:exactMatch Orphanet:330012 High altitude pulmonary edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high altitude pulmonary edema LEXMATCH -MONDO:0031322 triopia skos:exactMatch Orphanet:3374 Unilateral ocular duplication semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym triopia LEXMATCH -MONDO:0031415 Carey-Fineman-Ziter syndrome skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome LEXMATCH -MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques LEXMATCH -MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma LEXMATCH -MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome LEXMATCH -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:exactMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary microcephaly-epilepsy-permanent neonatal diabetes syndrome LEXMATCH -MONDO:0032600 Snijders Blok-Campeau syndrome skos:exactMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym snijders blok-campeau syndrome LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia LEXMATCH -MONDO:0032653 cardiac-urogenital syndrome skos:exactMatch Orphanet:647811 Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac-urogenital syndrome LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal epileptic encephalopathy due to glutaminase deficiency LEXMATCH -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome skos:exactMatch Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular ehlers-danlos-polymicrogyria syndrome LEXMATCH -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:exactMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute reversible leukoencephalopathy due to slc13a3 deficiency LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency LEXMATCH -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate LEXMATCH -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:exactMatch Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type LEXMATCH -MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:exactMatch Orphanet:631068 Autosomal dominant spastic paraplegia type 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 80 LEXMATCH -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:exactMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pontine autosomal dominant microangiopathy with leukoencephalopathy LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label resistance to thyrotropin-releasing hormone syndrome LEXMATCH -MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type skos:exactMatch Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, isidor-toutain type LEXMATCH -MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:exactMatch Orphanet:631073 Autosomal recessive spastic paraplegia type 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 82 LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome LEXMATCH -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:exactMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome LEXMATCH -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:exactMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pmp2-related charcot-marie-tooth disease type 1 LEXMATCH -MONDO:0033203 nephrotic syndrome 14 skos:exactMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency LEXMATCH -MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:642747 PUM1-related cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pum1-related cerebellar ataxia LEXMATCH -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities skos:exactMatch Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome LEXMATCH -MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:exactMatch Orphanet:631076 Autosomal recessive spastic paraplegia type 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 83 LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bachmann-bupp syndrome LEXMATCH -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities skos:exactMatch Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome LEXMATCH -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome skos:exactMatch Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane anomaly-myopathy-scoliosis syndrome LEXMATCH -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome skos:exactMatch Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome LEXMATCH -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome skos:exactMatch Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome LEXMATCH -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation skos:exactMatch Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cerebellar ataxia due to rnu12 mutation LEXMATCH -MONDO:0033809 isolated blepharochalasis skos:exactMatch Orphanet:519390 Isolated blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated blepharochalasis LEXMATCH -MONDO:0033810 isolated iridoschisis skos:exactMatch Orphanet:519392 Isolated iridoschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated iridoschisis LEXMATCH -MONDO:0033816 thygeson superficial punctate keratopathy skos:exactMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thygeson superficial punctate keratopathy LEXMATCH -MONDO:0033818 Terrien marginal degeneration skos:exactMatch Orphanet:519410 Terrien marginal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label terrien marginal degeneration LEXMATCH -MONDO:0033821 fungal keratitis skos:exactMatch Orphanet:519930 Fungal keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal keratitis LEXMATCH -MONDO:0033838 radiation-induced plexopathy skos:exactMatch Orphanet:521123 Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation-induced plexopathy LEXMATCH -MONDO:0033839 osteoradionecrosis of the mandible skos:exactMatch Orphanet:521127 Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoradionecrosis of the mandible LEXMATCH -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect skos:exactMatch Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect LEXMATCH -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome skos:exactMatch Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome LEXMATCH -MONDO:0033856 LAMA5-related multisystemic syndrome skos:exactMatch Orphanet:521450 LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lama5-related multisystemic syndrome LEXMATCH -MONDO:0033862 primary autoimmune enteropathy skos:exactMatch Orphanet:522037 Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary autoimmune enteropathy LEXMATCH -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:exactMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome LEXMATCH -MONDO:0033925 pediatric-onset Graves disease skos:exactMatch Orphanet:525731 Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric-onset graves disease LEXMATCH -MONDO:0033926 prepubertal anorexia nervosa skos:exactMatch Orphanet:525738 Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prepubertal anorexia nervosa LEXMATCH -MONDO:0033938 acute radiation syndrome skos:exactMatch Orphanet:454831 Acute radiation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute radiation syndrome LEXMATCH -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:exactMatch Orphanet:528623 Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema with c1inh deficiency LEXMATCH -MONDO:0033948 acquired angioedema with C1Inh deficiency skos:exactMatch Orphanet:528663 Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema with c1inh deficiency LEXMATCH -MONDO:0033954 monoclonal mast cell activation syndrome skos:exactMatch Orphanet:529468 Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome LEXMATCH -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome skos:exactMatch Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome LEXMATCH -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome skos:exactMatch Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disease-recurrent sinopulmonary infections syndrome LEXMATCH -MONDO:0033980 RELA fusion-positive ependymoma skos:exactMatch Orphanet:530792 RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rela fusion-positive ependymoma LEXMATCH -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylodysplastic ehlers-danlos syndrome LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:exactMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathic eds LEXMATCH -MONDO:0034022 Bethlem myopathy 2 skos:exactMatch Orphanet:536516 Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathic ehlers-danlos syndrome LEXMATCH -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic ehlers-danlos syndrome LEXMATCH -MONDO:0034041 congenital axonal neuropathy with encephalopathy skos:exactMatch Orphanet:538101 Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital axonal neuropathy with encephalopathy LEXMATCH -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome skos:exactMatch Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome LEXMATCH -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy skos:exactMatch Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syngap1-related developmental and epileptic encephalopathy LEXMATCH -MONDO:0034103 infection-related hemolytic uremic syndrome skos:exactMatch Orphanet:544482 Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infection-related hemolytic uremic syndrome LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rnf13-related severe early-onset epileptic encephalopathy LEXMATCH -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:exactMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with reduced type 2 muscle fibers LEXMATCH -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome skos:exactMatch Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical fanconi syndrome-neonatal hyperinsulinism syndrome LEXMATCH -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:exactMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nad(p)hx dehydratase deficiency LEXMATCH -MONDO:0034127 IgA pemphigus skos:exactMatch Orphanet:555905 IgA pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iga pemphigus LEXMATCH -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome skos:exactMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic agenesis-holoprosencephaly syndrome LEXMATCH -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia skos:exactMatch Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset calcifying leukoencephalopathy-skeletal dysplasia LEXMATCH -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency skos:exactMatch Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia-dysarthria due to glutaminase deficiency LEXMATCH -MONDO:0034150 idiopathic gastroparesis skos:exactMatch Orphanet:558411 Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic gastroparesis LEXMATCH -MONDO:0034186 autosomal recessive extra-oral halitosis skos:exactMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive extra-oral halitosis LEXMATCH -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome skos:exactMatch Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome LEXMATCH -MONDO:0034204 syndromic congenital sodium diarrhea skos:exactMatch Orphanet:563708 Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic congenital sodium diarrhea LEXMATCH -MONDO:0034212 methotrexate toxicity skos:exactMatch Orphanet:565782 Methotrexate toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity LEXMATCH -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha skos:exactMatch Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha LEXMATCH -MONDO:0034669 non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic preaxial polydactyly LEXMATCH -MONDO:0034670 non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic postaxial polydactyly LEXMATCH -MONDO:0034671 non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic complex polydactyly LEXMATCH -MONDO:0034676 overgrowth syndrome with 2q37 translocation skos:exactMatch Orphanet:498488 Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth syndrome with 2q37 translocation LEXMATCH -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome skos:exactMatch Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral-facial-digital syndrome with short stature and brachymesophalangy LEXMATCH -MONDO:0034846 primary desmosis coli skos:exactMatch Orphanet:565641 Primary desmosis coli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary desmosis coli LEXMATCH -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome skos:exactMatch Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome LEXMATCH -MONDO:0034971 isolated congenital entropion skos:exactMatch Orphanet:519386 Isolated congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital entropion LEXMATCH -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iatrogenic creutzfeldt-jakob disease LEXMATCH -MONDO:0034978 isolated foveal hypoplasia skos:exactMatch Orphanet:519398 Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated foveal hypoplasia LEXMATCH -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas skos:exactMatch Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraductal tubulopapillary neoplasm of pancreas LEXMATCH -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome skos:exactMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-cardiac anomalies-short stature-joint laxity syndrome LEXMATCH -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome skos:exactMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome LEXMATCH -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form skos:exactMatch Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serine biosynthesis pathway deficiency, infantile/juvenile form LEXMATCH -MONDO:0035008 isolated splenic vein thrombosis skos:exactMatch Orphanet:583856 Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated splenic vein thrombosis LEXMATCH -MONDO:0035009 isolated mesenteric vein thrombosis skos:exactMatch Orphanet:583861 Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated mesenteric vein thrombosis LEXMATCH -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome skos:exactMatch Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia-bifid nose-upper limb anomalies syndrome LEXMATCH -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome skos:exactMatch Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome LEXMATCH -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome skos:exactMatch Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic hernia-short bowel-asplenia syndrome LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with bcr-abl1 LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with t(9;22)(q34.1;q11.2) LEXMATCH -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 skos:exactMatch Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with t(9;22)(q34.1;q11.2) LEXMATCH -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pum1-associated developmental disability-ataxia-seizure syndrome LEXMATCH -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement skos:exactMatch Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid/lymphoid neoplasm associated with jak2 rearrangement LEXMATCH -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder skos:exactMatch Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grin2b-related developmental delay, intellectual disability and autism spectrum disorder LEXMATCH -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies skos:exactMatch Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies LEXMATCH -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:exactMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome LEXMATCH -MONDO:0035136 isolated melanotic schwannoma skos:exactMatch Orphanet:590539 Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated melanotic schwannoma LEXMATCH -MONDO:0035149 secondary erythromelalgia skos:exactMatch Orphanet:529864 Secondary erythromelalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary erythromelalgia LEXMATCH -MONDO:0035151 17q24.2 microdeletion syndrome skos:exactMatch Orphanet:529962 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 17q24.2 microdeletion syndrome LEXMATCH -MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to acephalic spermatozoa LEXMATCH -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system skos:exactMatch Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermoid or epidermoid cyst of the central nervous system LEXMATCH -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies skos:exactMatch Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy with neuroserpin inclusion bodies LEXMATCH -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies skos:exactMatch Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive dementia with neuroserpin inclusion bodies LEXMATCH -MONDO:0035162 PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pik3ca-related overgrowth syndrome LEXMATCH -MONDO:0035173 9q21.13 microdeletion syndrome skos:exactMatch Orphanet:531151 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q21.13 microdeletion syndrome LEXMATCH -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh skos:exactMatch Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plg-related hereditary angioedema with normal c1inh LEXMATCH -MONDO:0035235 classic pyoderma gangrenosum skos:exactMatch Orphanet:538863 Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic pyoderma gangrenosum LEXMATCH -MONDO:0035236 pustular pyoderma gangrenosum skos:exactMatch Orphanet:538866 Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustular pyoderma gangrenosum LEXMATCH -MONDO:0035237 bullous pyoderma gangrenosum skos:exactMatch Orphanet:538869 Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pyoderma gangrenosum LEXMATCH -MONDO:0035238 vegetative pyoderma gangrenosum skos:exactMatch Orphanet:538872 Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vegetative pyoderma gangrenosum LEXMATCH -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality skos:exactMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical hemolytic uremic syndrome with complement gene abnormality LEXMATCH -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome skos:exactMatch Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcus pneumoniae-associated hemolytic uremic syndrome LEXMATCH -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form skos:exactMatch Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, refluxing and obstructed form LEXMATCH -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrohistiocytic inflammatory pseudotumor of the liver LEXMATCH -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver skos:exactMatch Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoplasmacytic inflammatory pseudotumor of the liver LEXMATCH -MONDO:0035320 early-onset familial hypoaldosteronism skos:exactMatch Orphanet:556030 Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset familial hypoaldosteronism LEXMATCH -MONDO:0035321 late-onset familial hypoaldosteronism skos:exactMatch Orphanet:556037 Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset familial hypoaldosteronism LEXMATCH -MONDO:0035337 Duane retraction syndrome with congenital deafness skos:exactMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane retraction syndrome with congenital deafness LEXMATCH -MONDO:0035344 acute bilirubin encephalopathy skos:exactMatch Orphanet:529799 Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bilirubin encephalopathy LEXMATCH -MONDO:0035345 chronic bilirubin encephalopathy skos:exactMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic bilirubin encephalopathy LEXMATCH -MONDO:0035349 localized dystrophic epidermolysis bullosa skos:exactMatch Orphanet:595356 Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized dystrophic epidermolysis bullosa LEXMATCH -MONDO:0035350 letrozole toxicity skos:exactMatch Orphanet:529831 Letrozole toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label letrozole toxicity LEXMATCH -MONDO:0035357 portosinusoidal vascular disease skos:exactMatch Orphanet:596937 Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portosinusoidal vascular disease LEXMATCH -MONDO:0035362 TRIM22-related inflammatory bowel disease skos:exactMatch Orphanet:597201 TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trim22-related inflammatory bowel disease LEXMATCH -MONDO:0035370 ALPI-related inflammatory bowel disease skos:exactMatch Orphanet:597887 ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpi-related inflammatory bowel disease LEXMATCH -MONDO:0035375 multisystem inflammatory syndrome in children and adults skos:exactMatch Orphanet:598363 Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multisystem inflammatory syndrome in children and adults LEXMATCH -MONDO:0035383 FOXG1 syndrome skos:exactMatch Orphanet:561854 FOXG1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foxg1 syndrome LEXMATCH -MONDO:0035400 seronegative autoimmune hepatitis skos:exactMatch Orphanet:563589 Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seronegative autoimmune hepatitis LEXMATCH -MONDO:0035401 isolated anencephaly skos:exactMatch Orphanet:563609 Isolated anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated anencephaly LEXMATCH -MONDO:0035402 isolated exencephaly skos:exactMatch Orphanet:563612 Isolated exencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated exencephaly LEXMATCH -MONDO:0035403 serous cystadenoma of childhood skos:exactMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serous cystadenoma of childhood LEXMATCH -MONDO:0035404 mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucinous cystadenoma of childhood LEXMATCH -MONDO:0035405 seromucinous cystadenoma of childhood skos:exactMatch Orphanet:563676 Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seromucinous cystadenoma of childhood LEXMATCH -MONDO:0035406 furuncular myiasis due to Dermatobia hominis skos:exactMatch Orphanet:563684 Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to dermatobia hominis LEXMATCH -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga skos:exactMatch Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to cordylobia anthropophaga LEXMATCH -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini skos:exactMatch Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to cordylobia rodhaini LEXMATCH -MONDO:0035410 isolated congenital aglossia skos:exactMatch Orphanet:563951 Isolated congenital aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital aglossia LEXMATCH -MONDO:0035411 isolated congenital hypoglossia skos:exactMatch Orphanet:563954 Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypoglossia LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutral lipid storage disease with severe cardiovascular involvement LEXMATCH -MONDO:0035423 triglyceride deposit cardiomyovasculopathy skos:exactMatch Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tgcv LEXMATCH -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 skos:exactMatch Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pomgnt2-related limb-girdle muscular dystrophy r24 LEXMATCH -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 skos:exactMatch Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calpain-3-related limb-girdle muscular dystrophy d4 LEXMATCH -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome skos:exactMatch Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome LEXMATCH -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia skos:exactMatch Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital autosomal recessive small-platelet thrombocytopenia LEXMATCH -MONDO:0035444 acute mast cell leukemia skos:exactMatch Orphanet:566393 Acute mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute mast cell leukemia LEXMATCH -MONDO:0035445 chronic mast cell leukemia skos:exactMatch Orphanet:566396 Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic mast cell leukemia LEXMATCH -MONDO:0035447 liver adenomatosis skos:exactMatch Orphanet:566841 Liver adenomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liver adenomatosis LEXMATCH -MONDO:0035449 atelencephaly skos:exactMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelencephaly LEXMATCH -MONDO:0035450 aprosencephaly skos:exactMatch Orphanet:566857 Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly LEXMATCH -MONDO:0035452 mueller-weiss syndrome skos:exactMatch Orphanet:566943 Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mueller-weiss syndrome LEXMATCH -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome LEXMATCH -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome skos:exactMatch Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic multidrug-resistant nephrotic syndrome LEXMATCH -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy skos:exactMatch Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy LEXMATCH -MONDO:0035472 GJC2-related late-onset primary lymphedema skos:exactMatch Orphanet:568051 GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gjc2-related late-onset primary lymphedema LEXMATCH -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome skos:exactMatch Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome LEXMATCH -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:exactMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis LEXMATCH -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis skos:exactMatch Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ephb4-related lymphatic-related hydrops fetalis LEXMATCH -MONDO:0035499 CELSR1-related late-onset primary lymphedema skos:exactMatch Orphanet:569816 CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label celsr1-related late-onset primary lymphedema LEXMATCH -MONDO:0035500 congenital primary lymphedema of Gordon skos:exactMatch Orphanet:569821 Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary lymphedema of gordon LEXMATCH -MONDO:0035511 ricin poisoning skos:exactMatch Orphanet:570470 Ricin poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ricin poisoning LEXMATCH -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus skos:exactMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome plus LEXMATCH -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 skos:exactMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome type 1 LEXMATCH -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 skos:exactMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome type 2 LEXMATCH -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia skos:exactMatch Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia LEXMATCH -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label donson-related microcephaly-short stature-limb abnormalities spectrum LEXMATCH -MONDO:0035540 pheochromocytoma-paraganglioma skos:exactMatch Orphanet:573163 Pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pheochromocytoma-paraganglioma LEXMATCH -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency skos:exactMatch Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label predisposition to severe viral infection due to irf7 deficiency LEXMATCH -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency skos:exactMatch Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency LEXMATCH -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy skos:exactMatch Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cathepsin a-related arteriopathy-strokes-leukoencephalopathy LEXMATCH -MONDO:0035562 acquired human prion disease skos:exactMatch Orphanet:576360 Acquired human prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired human prion disease LEXMATCH -MONDO:0035584 punctate inner choroidopathy skos:exactMatch Orphanet:580951 Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate inner choroidopathy LEXMATCH -MONDO:0035586 Cramp-fasciculation syndrome skos:exactMatch Orphanet:581271 Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cramp-fasciculation syndrome LEXMATCH -MONDO:0035592 congenital infiltrating lipomatosis of the face skos:exactMatch Orphanet:583097 Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital infiltrating lipomatosis of the face LEXMATCH -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality skos:exactMatch Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality LEXMATCH -MONDO:0035614 sporadic fatal insomnia skos:exactMatch Orphanet:586130 Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic fatal insomnia LEXMATCH -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) LEXMATCH -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) skos:exactMatch Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia with t(v;11q23.3) LEXMATCH -MONDO:0035646 congenital-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589821 Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital-onset steinert myotonic dystrophy LEXMATCH -MONDO:0035647 childhood-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589824 Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset steinert myotonic dystrophy LEXMATCH -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile-onset steinert myotonic dystrophy LEXMATCH -MONDO:0035649 adult-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589830 Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset steinert myotonic dystrophy LEXMATCH -MONDO:0035650 late-onset Steinert myotonic dystrophy skos:exactMatch Orphanet:589833 Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset steinert myotonic dystrophy LEXMATCH -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome skos:exactMatch Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome LEXMATCH -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum skos:exactMatch Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnao1-related developmental delay-seizures-movement disorder spectrum LEXMATCH -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome skos:exactMatch Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome LEXMATCH -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies skos:exactMatch Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder with anti-aqp4 antibodies LEXMATCH -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies skos:exactMatch Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder with anti-mog antibodies LEXMATCH -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies skos:exactMatch Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies LEXMATCH -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies skos:exactMatch Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute transverse myelitis with anti-mog antibodies LEXMATCH -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies skos:exactMatch Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis without anti-mog antibodies LEXMATCH -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies skos:exactMatch Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis with anti-mog antibodies LEXMATCH -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies skos:exactMatch Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis with anti-mog antibodies LEXMATCH -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies skos:exactMatch Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis without anti-mog antibodies LEXMATCH -MONDO:0035678 Timothy syndrome type 1 skos:exactMatch Orphanet:595098 Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome type 1 LEXMATCH -MONDO:0035679 Timothy syndrome type 2 skos:exactMatch Orphanet:595105 Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome type 2 LEXMATCH -MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrous dysplasia/mccune-albright syndrome LEXMATCH -MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndrome of reduced sensitivity to thyroid hormone LEXMATCH -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency skos:exactMatch Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to rela haploinsufficiency LEXMATCH -MONDO:0035696 incomplete septal cirrhosis skos:exactMatch Orphanet:596941 Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incomplete septal cirrhosis LEXMATCH -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome skos:exactMatch Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome LEXMATCH -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome skos:exactMatch Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome LEXMATCH -MONDO:0035713 FOXG1 syndrome due to intragenic alteration skos:exactMatch Orphanet:598164 FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foxg1 syndrome due to intragenic alteration LEXMATCH -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant skos:exactMatch Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema with normal c1inh not related to f12 or plg variant LEXMATCH -MONDO:0035735 acquired hemophilia A skos:exactMatch Orphanet:599480 Acquired hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophilia a LEXMATCH -MONDO:0035736 acquired hemophilia B skos:exactMatch Orphanet:599485 Acquired hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophilia b LEXMATCH -MONDO:0035737 acquired factor V deficiency skos:exactMatch Orphanet:599490 Acquired factor V deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency LEXMATCH -MONDO:0035738 acquired factor VII deficiency skos:exactMatch Orphanet:599495 Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency LEXMATCH -MONDO:0035740 acquired factor XI deficiency skos:exactMatch Orphanet:599507 Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency LEXMATCH -MONDO:0035742 factor V short isoforms-related bleeding disorder skos:exactMatch Orphanet:599519 Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v short isoforms-related bleeding disorder LEXMATCH -MONDO:0035743 factor V amsterdam bleeding disorder skos:exactMatch Orphanet:599579 Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v amsterdam bleeding disorder LEXMATCH -MONDO:0035759 factor V atlanta bleeding disorder skos:exactMatch Orphanet:600194 Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v atlanta bleeding disorder LEXMATCH -MONDO:0035763 idiopathic non-lupus full-house nephropathy skos:exactMatch Orphanet:567544 Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic non-lupus full-house nephropathy LEXMATCH -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance skos:exactMatch Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance LEXMATCH -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance skos:exactMatch Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance LEXMATCH -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome skos:exactMatch Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome LEXMATCH -MONDO:0035776 combined deficiency of factor VII and factor X skos:exactMatch Orphanet:600691 Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined deficiency of factor vii and factor x LEXMATCH -MONDO:0035777 parenteral nutrition-associated cholestasis skos:exactMatch Orphanet:567983 Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parenteral nutrition-associated cholestasis LEXMATCH -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type skos:exactMatch Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic anorectal malformation with rectourethral fistula, bulbar type LEXMATCH -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type skos:exactMatch Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic anorectal malformation with rectourethral fistula, prostatic type LEXMATCH -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:exactMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome LEXMATCH -MONDO:0035821 isolated female hypospadias skos:exactMatch Orphanet:603515 Isolated female hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated female hypospadias LEXMATCH -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome skos:exactMatch Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klhl7-related bohring-opitz-like syndrome LEXMATCH -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome skos:exactMatch Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klhl7-related crisponi-like syndrome LEXMATCH -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers skos:exactMatch Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of x-linked centronuclear myopathy in female carriers LEXMATCH -MONDO:0035838 idiopathic multicentric Castleman disease skos:exactMatch Orphanet:570431 Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic multicentric castleman disease LEXMATCH -MONDO:0035879 granuloma faciale skos:exactMatch Orphanet:615943 Granuloma faciale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma faciale LEXMATCH -MONDO:0035882 chronic intervillositis of unknown etiology skos:exactMatch Orphanet:615970 Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intervillositis of unknown etiology LEXMATCH -MONDO:0035892 Mills syndrome skos:exactMatch Orphanet:94091 Mills syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mills syndrome LEXMATCH -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency skos:exactMatch Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency LEXMATCH -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) LEXMATCH -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) skos:exactMatch Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(v;11q23.3) LEXMATCH -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) skos:exactMatch Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) LEXMATCH -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy skos:exactMatch Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hyperdiploidy LEXMATCH -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy skos:exactMatch Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hypodiploidy LEXMATCH -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) skos:exactMatch Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) LEXMATCH -MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome skos:exactMatch Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kat6b-related multiple congenital anomalies syndrome LEXMATCH -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia skos:exactMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euthyroid dysprealbuminemic hyperthyroxinemia LEXMATCH -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:exactMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculogastrointestinal-neurodevelopmental syndrome LEXMATCH -MONDO:0036192 EN1-related dorsoventral syndrome skos:exactMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label en1-related dorsoventral syndrome LEXMATCH -MONDO:0036193 parkinsonism with polyneuropathy skos:exactMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinsonism with polyneuropathy LEXMATCH -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:exactMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraparesis-cataracts-speech delay syndrome LEXMATCH -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation skos:exactMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation LEXMATCH -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster skos:exactMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster LEXMATCH -MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma LEXMATCH -MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma LEXMATCH -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation skos:exactMatch Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate acrokeratoderma freckle-like pigmentation LEXMATCH -MONDO:0037149 HSD10 disease, atypical type skos:exactMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, atypical type LEXMATCH -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection skos:exactMatch Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonia caused by pseudomonas aeruginosa infection LEXMATCH -MONDO:0037792 carbohydrate metabolism disease skos:exactMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate metabolism LEXMATCH -MONDO:0037807 glycerol metabolism disease skos:exactMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of glycerol metabolism LEXMATCH -MONDO:0037829 purine metabolism disease skos:exactMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of purine metabolism LEXMATCH -MONDO:0037937 pyrimidine metabolism disease skos:exactMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of pyrimidine metabolism LEXMATCH -MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria LEXMATCH -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch Orphanet:494421 Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sacrococcygeal teratoma LEXMATCH -MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic lethal multiple congenital anomalies/dysmorphic syndrome LEXMATCH -MONDO:0043317 amyopathic dermatomyositis skos:exactMatch Orphanet:645617 Amyopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyopathic dermatomyositis LEXMATCH -MONDO:0043330 Mirizzi syndrome skos:exactMatch Orphanet:521219 Mirizzi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirizzi syndrome LEXMATCH -MONDO:0043373 sudden sensorineural hearing loss skos:exactMatch Orphanet:90059 Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sudden sensorineural hearing loss LEXMATCH -MONDO:0043459 radiation-induced disorder skos:exactMatch Orphanet:521132 Radiation-induced disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation-induced disorder LEXMATCH -MONDO:0043797 spinal cord injury skos:exactMatch Orphanet:90058 Spinal cord injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord injury LEXMATCH -MONDO:0044067 candidiasis, invasive skos:exactMatch Orphanet:636945 Invasive Candidiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label invasive candidiasis LEXMATCH -MONDO:0044200 T-B+ severe combined immunodeficiency skos:exactMatch Orphanet:317416 T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency LEXMATCH -MONDO:0044201 T+ B+ severe combined immunodeficiency skos:exactMatch Orphanet:397802 T+ B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t+ b+ severe combined immunodeficiency LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial paroxysmal kinesigenic dyskinesia LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial pkd LEXMATCH -MONDO:0044202 episodic kinesigenic dyskinesia skos:exactMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxysmal kinesigenic choreathetosis LEXMATCH -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cdk13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome LEXMATCH -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:exactMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphenylalaninemia due to dnajc12 deficiency LEXMATCH -MONDO:0044323 Rahman syndrome skos:exactMatch Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rahman syndrome LEXMATCH -MONDO:0044323 Rahman syndrome skos:exactMatch Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to h1-4 mutation LEXMATCH -MONDO:0044323 Rahman syndrome skos:exactMatch Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rahman syndrome LEXMATCH -MONDO:0044332 childhood-onset benign chorea with striatal involvement skos:exactMatch Orphanet:494541 Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset benign chorea with striatal involvement LEXMATCH -MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy LEXMATCH -MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:exactMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sternocostoclavicular hyperostosis LEXMATCH -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome skos:exactMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stoll-alembik-finck syndrome LEXMATCH -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome skos:exactMatch Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome LEXMATCH -MONDO:0044619 propylthiouracil embryofetopathy skos:exactMatch Orphanet:485358 Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label propylthiouracil embryofetopathy LEXMATCH -MONDO:0044621 16p12.1p12.3 triplication syndrome skos:exactMatch Orphanet:485405 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p12.1p12.3 triplication syndrome LEXMATCH -MONDO:0044622 EMILIN-1-related connective tissue disease skos:exactMatch Orphanet:485418 EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emilin-1-related connective tissue disease LEXMATCH -MONDO:0044624 pediatric collagenous gastritis skos:exactMatch Orphanet:487809 Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric collagenous gastritis LEXMATCH -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation skos:exactMatch Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation LEXMATCH -MONDO:0044626 female infertility due to oocyte meiotic arrest skos:exactMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility due to oocyte meiotic arrest LEXMATCH -MONDO:0044627 acute macular neuroretinopathy skos:exactMatch Orphanet:488239 Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute macular neuroretinopathy LEXMATCH -MONDO:0044628 six2-related frontonasal dysplasia skos:exactMatch Orphanet:488437 SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label six2-related frontonasal dysplasia LEXMATCH -MONDO:0044629 congenital amyoplasia skos:exactMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital amyoplasia LEXMATCH -MONDO:0044632 extracranial carotid artery aneurysm skos:exactMatch Orphanet:494424 Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extracranial carotid artery aneurysm LEXMATCH -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis skos:exactMatch Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pleuroparenchymal fibroelastosis LEXMATCH -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:exactMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome LEXMATCH -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome skos:exactMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaph1-related sensorineural hearing loss-thrombocytopenia syndrome LEXMATCH -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement skos:exactMatch Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset generalized dyskinesia with orofacial involvement LEXMATCH -MONDO:0044640 Charcot-Marie-Tooth disease type 2T skos:exactMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2t LEXMATCH -MONDO:0044641 9q33.3q34.11 microdeletion syndrome skos:exactMatch Orphanet:495818 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q33.3q34.11 microdeletion syndrome LEXMATCH -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy skos:exactMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c11orf73-related autosomal recessive hypomyelinating leukodystrophy LEXMATCH -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome skos:exactMatch Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome LEXMATCH -MONDO:0044644 congenital agenesis of the scrotum skos:exactMatch Orphanet:495879 Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital agenesis of the scrotum LEXMATCH -MONDO:0044645 familial monosomy 7 syndrome skos:exactMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial monosomy 7 syndrome LEXMATCH -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome skos:exactMatch Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome LEXMATCH -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome skos:exactMatch Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome LEXMATCH -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome skos:exactMatch Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome LEXMATCH -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome skos:exactMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome LEXMATCH -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome skos:exactMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome LEXMATCH -MONDO:0044656 epidermolytic nevus skos:exactMatch Orphanet:497737 Epidermolytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolytic nevus LEXMATCH -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 skos:exactMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mme-related autosomal dominant charcot marie tooth disease type 2 LEXMATCH -MONDO:0044660 menstrual cycle-dependent periodic fever skos:exactMatch Orphanet:498251 Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menstrual cycle-dependent periodic fever LEXMATCH -MONDO:0044663 aquagenic palmoplantar keratoderma skos:exactMatch Orphanet:498359 Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aquagenic palmoplantar keratoderma LEXMATCH -MONDO:0044675 LRP5-related primary osteoporosis skos:exactMatch Orphanet:498481 LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lrp5-related primary osteoporosis LEXMATCH -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome skos:exactMatch Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome LEXMATCH -MONDO:0044685 autoimmune/inflammatory optic neuropathy skos:exactMatch Orphanet:499047 Autoimmune/inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune/inflammatory optic neuropathy LEXMATCH -MONDO:0044687 chronic relapsing inflammatory optic neuropathy skos:exactMatch Orphanet:499085 Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic relapsing inflammatory optic neuropathy LEXMATCH -MONDO:0044688 isolated optic neuritis skos:exactMatch Orphanet:499096 Isolated optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis LEXMATCH -MONDO:0044689 recurrent idiopathic neuroretinitis skos:exactMatch Orphanet:499103 Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent idiopathic neuroretinitis LEXMATCH -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:exactMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome LEXMATCH -MONDO:0044699 SIN3A-related intellectual disability syndrome skos:exactMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sin3a-related intellectual disability syndrome LEXMATCH -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation skos:exactMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sin3a-related intellectual disability syndrome due to a point mutation LEXMATCH -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:exactMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder LEXMATCH -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:exactMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome LEXMATCH -MONDO:0044705 paranasal sinus squamous cell carcinoma skos:exactMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym squamous cell carcinoma of the nasal cavity and sinuses LEXMATCH -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:exactMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome LEXMATCH -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome skos:exactMatch Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metopic ridging-ptosis-facial dysmorphism syndrome LEXMATCH -MONDO:0044717 4q25 proximal deletion syndrome skos:exactMatch Orphanet:502437 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 4q25 proximal deletion syndrome LEXMATCH -MONDO:0044718 alkaline ceramidase 3 deficiency skos:exactMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alkaline ceramidase 3 deficiency LEXMATCH -MONDO:0044719 erythema multiforme major skos:exactMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme major LEXMATCH -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome skos:exactMatch Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome LEXMATCH -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency skos:exactMatch Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to lat deficiency LEXMATCH -MONDO:0044723 3-methylglutaconic aciduria type 8 skos:exactMatch Orphanet:505208 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 8 LEXMATCH -MONDO:0044724 3-methylglutaconic aciduria type 9 skos:exactMatch Orphanet:505216 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 9 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to gins1 deficiency LEXMATCH -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:exactMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym minen of pancreas LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic minen LEXMATCH -MONDO:0044727 pancreatic carcinoma with mixed differentiation skos:exactMatch Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm LEXMATCH -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction skos:exactMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction LEXMATCH -MONDO:0044738 Gabriele de Vries syndrome skos:exactMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yy1 haploinsufficiency syndrome LEXMATCH -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome skos:exactMatch Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome LEXMATCH -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch Orphanet:512103 Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive epidermolytic ichthyosis LEXMATCH -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma LEXMATCH -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas LEXMATCH -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas LEXMATCH -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma skos:exactMatch Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hepatocellular carcinoma and cholangiocarcinoma LEXMATCH -MONDO:0044792 large congenital melanocytic nevus skos:exactMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label large congenital melanocytic nevus LEXMATCH -MONDO:0044807 inherited dystonia skos:exactMatch Orphanet:391799 Rare genetic dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rare genetic dystonic disorder LEXMATCH -MONDO:0044807 inherited dystonia skos:exactMatch Orphanet:391799 Rare genetic dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare genetic dystonia LEXMATCH -MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia LEXMATCH -MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic torsion dystonia LEXMATCH -MONDO:0044876 drug hypersensitivity syndrome skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drug reaction with eosinophilia and systemic symptoms LEXMATCH -MONDO:0044877 paraneoplastic cerebellar degeneration skos:exactMatch Orphanet:623626 Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration LEXMATCH -MONDO:0044970 mitochondrial disease skos:exactMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial disease LEXMATCH -MONDO:0054559 congenital disorder of glycosylation, type IIq skos:exactMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cog2-related congenital disorder of glycosylation LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym skraban-deardorff syndrome LEXMATCH -MONDO:0054636 Skraban-Deardorff syndrome skos:exactMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym skraban-deardorff syndrome LEXMATCH -MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:exactMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pontocerebellar hypoplasia due to tbc1d23 LEXMATCH -MONDO:0054680 epiphyseal dysplasia, multiple, 7 skos:exactMatch Orphanet:647676 Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple epiphyseal dysplasia type 7 LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pmpcb deficiency LEXMATCH -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 6 LEXMATCH -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect skos:exactMatch Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy due to mitochondrial and peroxisomal fission defect LEXMATCH -MONDO:0060532 congenital heart defects and skeletal malformations syndrome skos:exactMatch Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome LEXMATCH -MONDO:0060564 HELIX syndrome skos:exactMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym helix syndrome LEXMATCH -MONDO:0060564 HELIX syndrome skos:exactMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome LEXMATCH -MONDO:0060564 HELIX syndrome skos:exactMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym helix syndrome LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilarowski-bjornsson syndrome LEXMATCH -MONDO:0060568 Pilarowski-Bjornsson syndrome skos:exactMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pilarowski-bjornsson syndrome LEXMATCH -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:exactMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auditory neuropathy-optic atrophy syndrome LEXMATCH -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language skos:exactMatch Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkuraya-kucinskas syndrome LEXMATCH -MONDO:0060631 Alkuraya-Kucinskas syndrome skos:exactMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkuraya-kucinskas syndrome LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome LEXMATCH -MONDO:0100017 pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris LEXMATCH -MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy of infancy with migrating focal seizures LEXMATCH -MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex neurodevelopmental disorder LEXMATCH -MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complex neurodevelopmental disorder LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early infantile epileptic encephalopathy with suppression-bursts LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohtahara syndrome LEXMATCH -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early infantile epileptic encephalopathy LEXMATCH -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency LEXMATCH -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency LEXMATCH -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy LEXMATCH -MONDO:0100087 familial Alzheimer disease skos:exactMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial alzheimer disease LEXMATCH -MONDO:0100101 fetal akinesia deformation sequence 1 skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pena-shokeir syndrome type 1 LEXMATCH -MONDO:0100115 acute flaccid myelitis skos:exactMatch Orphanet:623801 Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis LEXMATCH -MONDO:0100116 Middle East respiratory syndrome skos:exactMatch Orphanet:576074 Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle east respiratory syndrome LEXMATCH -MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym p5cs deficiency LEXMATCH -MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym p5cs deficiency LEXMATCH -MONDO:0100130 adult acute respiratory distress syndrome skos:exactMatch Orphanet:70578 Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult acute respiratory distress syndrome LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex i deficiency LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nadh-coenzyme q reductase deficiency LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nadh-coq reductase deficiency LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nadh-ubiquinone reductase deficiency LEXMATCH -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated complex i deficiency LEXMATCH -MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome LEXMATCH -MONDO:0100144 Uner Tan Syndrome skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uner tan syndrome LEXMATCH -MONDO:0100147 SATB2 associated disorder skos:exactMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label satb2-associated syndrome LEXMATCH -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mga1 LEXMATCH -MONDO:0100164 permanent neonatal diabetes mellitus skos:exactMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monogenic diabetes of infancy LEXMATCH -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gtpch deficiency LEXMATCH -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to gtp cyclohydrolase deficiency LEXMATCH -MONDO:0100194 pregnancy associated osteoporosis skos:exactMatch Orphanet:647823 Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pregnancy and lactation-associated osteoporosis LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laron-like syndrome LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short stature due to stat5b deficiency LEXMATCH -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laron syndrome with immunodeficiency LEXMATCH -MONDO:0100212 IFAP syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ifap syndrome LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis follicularis-atrichia-photophobia syndrome LEXMATCH -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis follicularis-alopecia-photophobia syndrome LEXMATCH -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:exactMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain calcification, rajab type LEXMATCH -MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lama2-related muscular dystrophy LEXMATCH -MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lama2-related muscular dystrophy LEXMATCH -MONDO:0100234 paroxysmal familial ventricular fibrillation skos:exactMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic ventricular fibrillation, non brugada type LEXMATCH -MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal nocturnal hemoglobinuria LEXMATCH -MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular dsd LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de la chapelle syndrome LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xx, male syndrome LEXMATCH -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch Orphanet:393 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development LEXMATCH -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudothalidomide syndrome LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roberts-sc phocomelia syndrome LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label roberts syndrome LEXMATCH -MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts-sc phocomelia syndrome LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:exactMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adk hypermethioninemia LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:exactMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypermethioninemia encephalopathy due to adk deficiency LEXMATCH -MONDO:0100255 adenosine kinase deficiency skos:exactMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypermethioninemia encephalopathy due to adenosine kinase deficiency LEXMATCH -MONDO:0100280 Waldenstrom macroglobulinemia skos:exactMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waldenström macroglobulinemia LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enhanced s-cone syndrome LEXMATCH -MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym enhanced s-cone syndrome LEXMATCH -MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goldmann-favre syndrome LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex ii deficiency LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated succinate-coenzyme q reductase deficiency LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated succinate-ubiquinone reductase deficiency LEXMATCH -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:exactMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated succinate-coq reductase deficiency LEXMATCH -MONDO:0100309 hereditary ataxia skos:exactMatch Orphanet:183518 Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldblatt chondrodysplasia LEXMATCH -MONDO:0100325 odontochondrodysplasia 1 skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldblatt syndrome LEXMATCH -MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanzmann thrombasthenia LEXMATCH -MONDO:0100327 hypercholanemia, familial skos:exactMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypercholanemia LEXMATCH -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia LEXMATCH -MONDO:0100344 Bartter disease type 1 skos:exactMatch Orphanet:620217 Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 1 LEXMATCH -MONDO:0100347 carcinoid syndrome skos:exactMatch Orphanet:100093 Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome LEXMATCH -MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis LEXMATCH -MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gentile syndrome LEXMATCH -MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome with congenital hepatic fibrosis LEXMATCH -MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym js-h LEXMATCH -MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome with hepatic defect LEXMATCH -MONDO:0100349 COACH syndrome skos:exactMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coach syndrome LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:exactMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berdon syndrome LEXMATCH -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome skos:exactMatch Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label port-wine nevi-mega cisterna magna-hydrocephalus syndrome LEXMATCH -MONDO:0100429 intrahepatic cholestasis of pregnancy skos:exactMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrahepatic cholestasis of pregnancy LEXMATCH -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 LEXMATCH -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 LEXMATCH -MONDO:0100450 CAPN5-related vitreoretinopathy skos:exactMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant neovascular inflammatory vitreoretinopathy LEXMATCH -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:exactMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondritis dissecans and short stature LEXMATCH -MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch Orphanet:618899 Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acid sphingomyelinase deficiency LEXMATCH -MONDO:0100466 butterfly-shaped pigment dystrophy skos:exactMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label butterfly-shaped pigment dystrophy LEXMATCH -MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome LEXMATCH -MONDO:0100491 generalized pustular psoriasis skos:exactMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis LEXMATCH -MONDO:0100501 body-stalk anomaly skos:exactMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym body stalk anomaly LEXMATCH -MONDO:0100508 salivary gland type cancer of the breast skos:exactMatch Orphanet:213557 Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland type cancer of the breast LEXMATCH -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form skos:exactMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form LEXMATCH -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type skos:exactMatch Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplastic cortical hyperostosis, kozlowski-tsuruta type LEXMATCH -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion skos:exactMatch Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hao-fountain syndrome due to 16p13.2 microdeletion LEXMATCH -MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) LEXMATCH -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) skos:exactMatch Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) LEXMATCH -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex LEXMATCH -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency skos:exactMatch Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency LEXMATCH -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disease LEXMATCH -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant ards LEXMATCH -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant respiratory distress syndrome LEXMATCH -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal respiratory distress syndrome LEXMATCH -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome LEXMATCH -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:exactMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxystic non-kinesigenic choreoathetosis LEXMATCH -MONDO:0700126 trisomy 21 skos:exactMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy 21 LEXMATCH -MONDO:0800025 Teebi hypertelorism syndrome 1 skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephalofrontonasal dysplasia LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital central alveolar hypoventilation syndrome LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine curse LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine syndrome LEXMATCH -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital central hypoventilation syndrome LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset leukoencephalopathy with axonal spheroids and pigmented glia LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant leukoencephalopathy with neuroaxonal spheroids LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial dementia, neumann type LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial progressive subcortical gliosis LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmentary orthochromatic leukodystrophy LEXMATCH -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:exactMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical gliosis of neumann LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid-mia/early-onset ibd LEXMATCH -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined immunodeficiency-enteropathy spectrum LEXMATCH -MONDO:0800042 restrictive dermopathy 1 skos:exactMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lethal restrictive dermopathy LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal schwartz-jampel syndrome LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 2 LEXMATCH -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:exactMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stüve-wiedemann dysplasia LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ngly1 deficiency LEXMATCH -MONDO:0800044 congenital disorder of deglycosylation 1 skos:exactMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ngly1-cddg LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym behçet-like disease due to ha20 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym behçet-like disease due to haploinsufficiency of a20 LEXMATCH -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:exactMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary pediatric behçet-like disease LEXMATCH -MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:exactMatch Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature-delayed bone age due to thyroid hormone metabolism deficiency LEXMATCH -MONDO:0800084 primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with increased bone density LEXMATCH -MONDO:0800085 dysostosis with predominant craniofacial involvement skos:exactMatch Orphanet:93453 Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with predominant craniofacial involvement LEXMATCH -MONDO:0800086 primary bone dysplasia with multiple joint dislocations skos:exactMatch Orphanet:93441 Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with multiple joint dislocations LEXMATCH -MONDO:0800087 type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 11 collagen-related bone disorder LEXMATCH -MONDO:0800088 lysosomal storage disease with skeletal involvement skos:exactMatch Orphanet:93448 Lysosomal storage disease with skeletal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal storage disease with skeletal involvement LEXMATCH -MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with disorganized development of skeletal components LEXMATCH -MONDO:0800090 ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectrodactyly with and without other manifestations LEXMATCH -MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth or tall stature syndrome with skeletal involvement LEXMATCH -MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic inflammatory or rheumatoid-like osteoarthropathy LEXMATCH -MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with brachydactyly without extraskeletal manifestations LEXMATCH -MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with brachydactyly with extraskeletal manifestations LEXMATCH -MONDO:0800095 syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndrome with synostosis or other joint formation defect LEXMATCH -MONDO:0800113 necrotizing vasculitis skos:exactMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic vasculitis LEXMATCH -MONDO:0800120 Mac-Leod-Swyer-James-Syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs LEXMATCH -MONDO:0800166 Knobloch syndrome skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knobloch syndrome LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym knobloch-layer syndrome LEXMATCH -MONDO:0800167 Knobloch syndrome 1 skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal detachment-occipital encephalocele syndrome LEXMATCH -MONDO:0800175 cardiogenic shock skos:exactMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock LEXMATCH -MONDO:0800198 alopecia universalis skos:exactMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis LEXMATCH -MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile skos:exactMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lincl LEXMATCH -MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia LEXMATCH -MONDO:0800307 de la Chapelle dysplasia skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym de la chapelle dysplasia LEXMATCH -MONDO:0800412 yakut short stature syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pascual-castroviejo syndrome type 1 LEXMATCH -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:exactMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrofaciothoracic dysplasia LEXMATCH -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy-moebius-robin syndrome LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood ataxia with diffuse central nervous system hypomyelination LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelinosis centralis diffusa LEXMATCH -MONDO:0800448 leukoencephalopathy with vanishing white matter skos:exactMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukoencephalopathy with vanishing white matter LEXMATCH -MONDO:0850001 congenital neuronal ceroid lipofuscinosis skos:exactMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis LEXMATCH -MONDO:0850007 syndromic lacrimal system disorder skos:exactMatch Orphanet:519274 Syndromic lacrimal system disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic lacrimal system disorder LEXMATCH -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations skos:exactMatch Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations LEXMATCH -MONDO:0850009 syndromic microspherophakia skos:exactMatch Orphanet:519294 Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia LEXMATCH -MONDO:0850013 twin anemia-polycythemia sequence skos:exactMatch Orphanet:617294 Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin anemia-polycythemia sequence LEXMATCH -MONDO:0850014 twin-reversed arterial perfusion sequence skos:exactMatch Orphanet:617297 Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence LEXMATCH -MONDO:0850015 selective intrauterine growth restriction skos:exactMatch Orphanet:617301 Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction LEXMATCH -MONDO:0850030 complete hemimelia skos:exactMatch Orphanet:498491 Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia LEXMATCH -MONDO:0850046 amniotic fluid embolism skos:exactMatch Orphanet:617304 Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism LEXMATCH -MONDO:0850048 classic eosinophilic pustular folliculitis skos:exactMatch Orphanet:617408 Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis LEXMATCH -MONDO:0850049 painful legs and moving toes syndrome skos:exactMatch Orphanet:617440 Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome LEXMATCH -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome skos:exactMatch Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome LEXMATCH -MONDO:0850053 F12-associated cold autoinflammatory syndrome skos:exactMatch Orphanet:617919 F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome LEXMATCH -MONDO:0850054 hemophilia B leyden skos:exactMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden LEXMATCH -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency skos:exactMatch Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency LEXMATCH -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome LEXMATCH -MONDO:0850064 inherited hematologic cancer-predisposing syndrome skos:exactMatch Orphanet:619340 Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome LEXMATCH -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 skos:exactMatch Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal-onset severe multisystemic autoinflammatory disease with increased il18 LEXMATCH -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome skos:exactMatch Orphanet:619367 SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label samd9l-associated autoinflammatory syndrome LEXMATCH -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration skos:exactMatch Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune deficiency due to impaired neutrophil phagocytosis and migration LEXMATCH -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome skos:exactMatch Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autoimmunity-autoinflammation-immunodeficiency syndrome LEXMATCH -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency skos:exactMatch Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinflammatory lymphoproliferative immunodeficiency LEXMATCH -MONDO:0850070 CADINS disease skos:exactMatch Orphanet:619972 CADINS disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadins disease LEXMATCH -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome skos:exactMatch Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome LEXMATCH -MONDO:0850072 non-syndromic unisutural craniosynostosis skos:exactMatch Orphanet:620096 Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisutural craniosynostosis LEXMATCH -MONDO:0850073 non-syndromic unicoronal craniosynostosis skos:exactMatch Orphanet:620102 Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal craniosynostosis LEXMATCH -MONDO:0850074 non-syndromic unilambdoid craniosynostosis skos:exactMatch Orphanet:620113 Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unilambdoid craniosynostosis LEXMATCH -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis skos:exactMatch Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unifrontosphenoidal craniosynostosis LEXMATCH -MONDO:0850076 non-syndromic unisquamosal craniosynostosis skos:exactMatch Orphanet:620146 Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisquamosal craniosynostosis LEXMATCH -MONDO:0850077 non-syndromic multisutural craniosynostosis skos:exactMatch Orphanet:620152 Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic multisutural craniosynostosis LEXMATCH -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis skos:exactMatch Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic non-specific multisutural craniosynostosis LEXMATCH -MONDO:0850079 non-syndromic bilambdoid craniosynostosis skos:exactMatch Orphanet:620178 Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bilambdoid craniosynostosis LEXMATCH -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal and sagittal craniosynostosis LEXMATCH -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis skos:exactMatch Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic metopic and sagittal craniosynostosis LEXMATCH -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis skos:exactMatch Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and metopic craniosynostosis LEXMATCH -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis skos:exactMatch Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and sagittal craniosynostosis LEXMATCH -MONDO:0850084 non-syndromic pansynostosis skos:exactMatch Orphanet:620212 Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic pansynostosis LEXMATCH -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome skos:exactMatch Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome LEXMATCH -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability skos:exactMatch Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label egf-related primary hypomagnesemia with intellectual disability LEXMATCH -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation skos:exactMatch Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman-like kidney tubulopathy due to mitochondrial dna mutation LEXMATCH -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome skos:exactMatch Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosis-neurodegeneration-cerebral angiomatosis syndrome LEXMATCH -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection skos:exactMatch Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe syndromic thoracic aortic aneurysm and dissection LEXMATCH -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia skos:exactMatch Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sbds-related severe neonatal spondylometaphyseal dysplasia LEXMATCH -MONDO:0850097 autoimmune limbic encephalitis skos:exactMatch Orphanet:623615 Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune limbic encephalitis LEXMATCH -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia skos:exactMatch Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mir140-related spondyloepiphyseal dysplasia LEXMATCH -MONDO:0850100 body integrity dysphoria skos:exactMatch Orphanet:623789 Body integrity dysphoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body integrity dysphoria LEXMATCH -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies skos:exactMatch Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis with characteristic antibodies LEXMATCH -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies skos:exactMatch Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis without characteristic antibodies LEXMATCH -MONDO:0850104 paraneoplastic isolated brainstem encephalitis skos:exactMatch Orphanet:624190 Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic isolated brainstem encephalitis LEXMATCH -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies skos:exactMatch Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis with characteristic antibodies LEXMATCH -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies skos:exactMatch Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis without characteristic antibodies LEXMATCH -MONDO:0850107 postinfectious cerebellitis skos:exactMatch Orphanet:624244 Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious cerebellitis LEXMATCH -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia with characteristic antibodies LEXMATCH -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies skos:exactMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia without characteristic antibodies LEXMATCH -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome skos:exactMatch Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset obesity-hyperphagia-severe developmental delay syndrome LEXMATCH -MONDO:0858989 autosomal recessive spastic paraplegia type 84 skos:exactMatch Orphanet:631079 Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 84 LEXMATCH -MONDO:0858990 autosomal recessive spastic paraplegia type 85 skos:exactMatch Orphanet:631082 Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 85 LEXMATCH -MONDO:0858991 autosomal recessive spastic paraplegia type 86 skos:exactMatch Orphanet:631085 Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 86 LEXMATCH -MONDO:0858992 autosomal recessive spastic paraplegia type 87 skos:exactMatch Orphanet:631088 Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 87 LEXMATCH -MONDO:0858997 cancer of unknown primary site skos:exactMatch Orphanet:631251 Cancer of unknown primary site semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cancer of unknown primary site LEXMATCH -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome skos:exactMatch Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia-digital anomalies-intellectual disability syndrome LEXMATCH -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kdm3b-related intellectual disability-facial dysmorphism-short stature syndrome LEXMATCH -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome skos:exactMatch Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related developmental delay-intellectual disability-sensorineural deafness syndrome LEXMATCH -MONDO:0859001 CPE-related Prader-Willi-like syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cpe-related prader-willi-like syndrome LEXMATCH -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome skos:exactMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-early-onset cataract-microcephaly syndrome LEXMATCH -MONDO:0859003 PAICS deficiency skos:exactMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paics deficiency LEXMATCH -MONDO:0859004 invasive scopulariopsis infection skos:exactMatch Orphanet:633124 Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label invasive scopulariopsis infection LEXMATCH -MONDO:0859005 preaxial digit brachydactyly-webbed fingers skos:exactMatch Orphanet:633211 Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preaxial digit brachydactyly-webbed fingers LEXMATCH -MONDO:0859006 proximal femoral focal deficiency skos:exactMatch Orphanet:633228 Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal femoral focal deficiency LEXMATCH -MONDO:0859007 mosaic Legius syndrome skos:exactMatch Orphanet:634511 Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic legius syndrome LEXMATCH -MONDO:0859008 neurofibromatosis/schwannomatosis skos:exactMatch Orphanet:634518 Neurofibromatosis/schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis/schwannomatosis LEXMATCH -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label smarca2-related blepharophimosis-intellectual disability syndrome LEXMATCH -MONDO:0859150 BDV syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome LEXMATCH -MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome LEXMATCH -MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphoribosylaminoimidazole carboxylase deficiency LEXMATCH -MONDO:0859565 atrioventricular septal defect skos:exactMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect LEXMATCH -MONDO:0859598 erythroleukemia skos:exactMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia LEXMATCH -MONDO:0859692 immune-mediated cerebellar ataxia skos:exactMatch Orphanet:623638 Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune-mediated cerebellar ataxia LEXMATCH -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome skos:exactMatch Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome LEXMATCH -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome skos:exactMatch Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome LEXMATCH -MONDO:0859763 mosaic neurofibromatosis type 1 skos:exactMatch Orphanet:634461 Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic neurofibromatosis type 1 LEXMATCH -MONDO:0859764 mosaic NF2-related schwannomatosis skos:exactMatch Orphanet:634475 Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic nf2-related schwannomatosis LEXMATCH -MONDO:0859765 mosaic schwannomatosis skos:exactMatch Orphanet:634492 Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic schwannomatosis LEXMATCH -MONDO:0957003 hereditary neuro-ophthalmological disease skos:exactMatch Orphanet:183616 Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic neuro-ophthalmological disease LEXMATCH -MONDO:0957008 hereditary cerebral malformation skos:exactMatch Orphanet:269553 Genetic cerebral malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic cerebral malformation LEXMATCH -MONDO:0957018 autoinflammatory syndrome of childhood skos:exactMatch Orphanet:319719 Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome of childhood LEXMATCH -MONDO:0957048 isolated macular dystrophy skos:exactMatch Orphanet:519302 Isolated macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated macular dystrophy LEXMATCH -MONDO:0957097 hereditary hemolytic uremic syndrome skos:exactMatch Orphanet:576742 Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hemolytic uremic syndrome LEXMATCH -MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect skos:exactMatch Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic sodium channel defect LEXMATCH -MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect skos:exactMatch Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic chloride channel defect LEXMATCH -MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect skos:exactMatch Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic calcium channel defect LEXMATCH -MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect skos:exactMatch Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic potassium channel defect LEXMATCH -MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect skos:exactMatch Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic ryanodine receptor defect LEXMATCH -MONDO:0957337 isolated chorioretinal dystrophy skos:exactMatch Orphanet:519300 Isolated chorioretinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated chorioretinal dystrophy LEXMATCH -MONDO:0957341 secondary early-onset glaucoma skos:exactMatch Orphanet:519331 Secondary early-onset glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary early-onset glaucoma LEXMATCH -MONDO:0957403 periodic fever syndrome of childhood skos:exactMatch Orphanet:324939 Periodic fever syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever syndrome of childhood LEXMATCH -MONDO:0957404 pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic autoinflammatory syndrome of childhood LEXMATCH -MONDO:0957405 granulomatous autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous autoinflammatory syndrome of childhood LEXMATCH -MONDO:0957408 type 1 interferonopathy of childhood skos:exactMatch Orphanet:481671 Type 1 interferonopathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 interferonopathy of childhood LEXMATCH -MONDO:0957421 borna virus encephalitis skos:exactMatch Orphanet:637051 Borna virus encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna virus encephalitis LEXMATCH -MONDO:0957423 immunotherapy induced hypophysitis skos:exactMatch Orphanet:641350 Immunotherapy induced hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotherapy induced hypophysitis LEXMATCH -MONDO:0957426 autosomal recessive hyper-IgE syndrome skos:exactMatch Orphanet:641368 Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyper-ige syndrome LEXMATCH -MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) skos:exactMatch Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) LEXMATCH -MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) skos:exactMatch Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(17;19) LEXMATCH -MONDO:0957430 childhood-onset schizophrenia skos:exactMatch Orphanet:641496 Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset schizophrenia LEXMATCH -MONDO:0957431 endogenous Cushing syndrome skos:exactMatch Orphanet:641613 Endogenous Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endogenous cushing syndrome LEXMATCH -MONDO:0957432 neonatal compartment syndrome skos:exactMatch Orphanet:641829 Neonatal compartment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal compartment syndrome LEXMATCH -MONDO:0957433 primary pulmonary vein stenosis skos:exactMatch Orphanet:642071 Primary pulmonary vein stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary vein stenosis LEXMATCH -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency skos:exactMatch Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex16 deficiency LEXMATCH -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency skos:exactMatch Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex2 deficiency LEXMATCH -MONDO:0957451 non-terminal myelocystocele skos:exactMatch Orphanet:645340 Non-terminal myelocystocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-terminal myelocystocele LEXMATCH -MONDO:0957452 segmental arterial mediolysis skos:exactMatch Orphanet:645350 Segmental arterial mediolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental arterial mediolysis LEXMATCH -MONDO:0957453 true myelomeningocele skos:exactMatch Orphanet:645383 True myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label true myelomeningocele LEXMATCH -MONDO:0957454 hemi-myelomeningocele skos:exactMatch Orphanet:645388 Hemi-myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemi-myelomeningocele LEXMATCH -MONDO:0957456 classical dermatomyositis skos:exactMatch Orphanet:645613 Classical dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classical dermatomyositis LEXMATCH -MONDO:0957458 adermatopathic dermatomyositis skos:exactMatch Orphanet:645626 Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adermatopathic dermatomyositis LEXMATCH -MONDO:0957459 congenital esophageal stenosis skos:exactMatch Orphanet:645749 Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital esophageal stenosis LEXMATCH -MONDO:0957460 spontaneous intestinal perforation skos:exactMatch Orphanet:645793 Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous intestinal perforation LEXMATCH -MONDO:0957461 primary tuberculous lymphadenitis skos:exactMatch Orphanet:645807 Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tuberculous lymphadenitis LEXMATCH -MONDO:0957462 primary pulmonary tuberculosis skos:exactMatch Orphanet:645814 Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary tuberculosis LEXMATCH -MONDO:0957463 primary bone and joint tuberculosis skos:exactMatch Orphanet:645822 Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone and joint tuberculosis LEXMATCH -MONDO:0957464 primary cutaneous tuberculosis skos:exactMatch Orphanet:645849 Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous tuberculosis LEXMATCH -MONDO:0957465 multifocal tuberculosis skos:exactMatch Orphanet:645854 Multifocal tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal tuberculosis LEXMATCH -MONDO:0957466 primary tuberculosis of the digestive system skos:exactMatch Orphanet:645859 Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tuberculosis of the digestive system LEXMATCH -MONDO:0957467 primary genito-urinary tuberculosis skos:exactMatch Orphanet:645874 Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary genito-urinary tuberculosis LEXMATCH -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome skos:exactMatch Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome LEXMATCH -MONDO:0957476 isolated persistent urogenital sinus skos:exactMatch Orphanet:647794 Isolated persistent urogenital sinus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated persistent urogenital sinus LEXMATCH -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome skos:exactMatch Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myt1l-related developmental delay-intellectual disability-obesity syndrome LEXMATCH -MONDO:0957481 idiopathic pregnancy-associated osteoporosis skos:exactMatch Orphanet:647823 Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pregnancy-associated osteoporosis LEXMATCH -MONDO:0957487 idiopathic catatonia skos:exactMatch Orphanet:648919 Idiopathic catatonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic catatonia LEXMATCH -MONDO:0957556 congenital pulmonary vein atresia skos:exactMatch Orphanet:99126 Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary vein atresia LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:exactMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warts-hypogammaglobulinemia-infections-myelokathexis syndrome LEXMATCH -MONDO:8000006 WHIM syndrome 1 skos:exactMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warts-infections-leukopenia-myelokatexis syndrome LEXMATCH -MONDO:8000008 Martsolf syndrome 1 skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cataract-intellectual disability-hypogonadism syndrome LEXMATCH -MONDO:8000010 antiphospholipid syndrome skos:exactMatch Orphanet:80 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:exactMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:exactMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vanishing testes syndrome LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:exactMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vanishing testis syndrome LEXMATCH -MONDO:8000015 46,XY sex reversal 11 skos:exactMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label testicular regression syndrome LEXMATCH +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032830 snijders blok-fisher syndrome skos:exactMatch Orphanet:656135 Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym snijders blok-fisher syndrome LEXMATCH +MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:exactMatch Orphanet:658595 DNMT3A-related microcephalic dwarfism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heyn-sproul-jackson syndrome LEXMATCH +MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Genetic premature ovarian failure semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Longitudinal limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Terminal transverse limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035251 obsolete anomalous aortic origin of coronary artery skos:exactMatch Orphanet:541478 Anomalous aortic origin of coronary artery semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0041186 Rowell syndrome skos:exactMatch Orphanet:658584 Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome LEXMATCH +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv new file mode 100644 index 00000000..b0e298dd --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv @@ -0,0 +1,2 @@ +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:narrowMatch DOID:0070476 diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 0a4d9300..a44a74fb 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -1,63 +1,101 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0005111 Epstein-Barr virus infection DOID:2938 MONDO:equivalentTo Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebv infection -MONDO:0005111 Epstein-Barr virus infection DOID:2938 MONDO:equivalentTo Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epstein-barr virus infection -MONDO:0005111 Epstein-Barr virus infection DOID:2938 MONDO:equivalentTo Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epstein-barr virus infection +MONDO:0005111 Epstein-Barr virus infection DOID:2938 MONDO:equivalentTo Epstein-Barr virus infectious disease semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d020031 MONDO:0006033 diffuse intrinsic pontine glioma DOID:0080684 MONDO:equivalentTo diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma MONDO:0006260 kidney medullary carcinoma DOID:0070475 MONDO:equivalentTo renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney medullary carcinoma MONDO:0006260 kidney medullary carcinoma DOID:0070475 MONDO:equivalentTo renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal medullary carcinoma MONDO:0006260 kidney medullary carcinoma DOID:0070475 MONDO:equivalentTo renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kidney medullary carcinoma -MONDO:0008078 neurofibromatosis, familial spinal DOID:0070482 MONDO:equivalentTo spinal neurofibromatosis semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162210 +MONDO:0008078 neurofibromatosis, familial spinal DOID:0070482 MONDO:equivalentTo spinal neurofibromatosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162210 +MONDO:0009068 cytochrome-c oxidase deficiency disease DOID:0070491 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:220110 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome DOID:0080400 MONDO:equivalentTo orofacial cleft 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zlotogora-ogur syndrome -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 DOID:0070433 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:239300 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 DOID:0070433 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:239300 +MONDO:0010010 Schinzel-Giedion syndrome DOID:0070509 MONDO:equivalentTo Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536632 +MONDO:0010010 Schinzel-Giedion syndrome DOID:0070509 MONDO:equivalentTo Schinzel Giedion syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:269150 MONDO:0011773 anauxetic dysplasia DOID:0050640 MONDO:equivalentTo anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia, menger type -MONDO:0012118 COG7-congenital disorder of glycosylation DOID:0070257 MONDO:equivalentTo congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608779 -MONDO:0012139 macular dystrophy, retinal, 3 DOID:0070440 MONDO:equivalentTo retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608850 -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome DOID:0070442 MONDO:equivalentTo paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:609446 -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 DOID:0070435 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614207 -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 DOID:0070434 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614749 -MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 DOID:0070462 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615228 -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 DOID:0070436 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615716 +MONDO:0012118 COG7-congenital disorder of glycosylation DOID:0070257 MONDO:equivalentTo congenital disorder of glycosylation type IIe semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608779 +MONDO:0012139 macular dystrophy, retinal, 3 DOID:0070440 MONDO:equivalentTo retinal macular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608850 +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome DOID:0070442 MONDO:equivalentTo paroxysmal nonkinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609446 +MONDO:0012756 proximal 16p11.2 microdeletion syndrome DOID:0070515 MONDO:equivalentTo chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611913 +MONDO:0013150 parkinsonism-dystonia, infantile DOID:0070487 MONDO:equivalentTo dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome +MONDO:0013150 parkinsonism-dystonia, infantile DOID:0070489 MONDO:equivalentTo classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567730 +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 DOID:0070435 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614207 +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 DOID:0070434 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614749 +MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 DOID:0070462 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615228 +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 DOID:0070436 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615716 MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 DOID:0070437 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 4 -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure DOID:0070396 MONDO:equivalentTo progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615889 -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 DOID:0070432 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616025 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure DOID:0070396 MONDO:equivalentTo progressive leukoencephalopathy with ovarian failure semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615889 +MONDO:0014399 ataxia-telangiectasia-like disorder 2 DOID:0081385 MONDO:equivalentTo ataxia-telangiectasia-like disorder-2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615919 +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 DOID:0070432 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616025 +MONDO:0014557 ataxia - oculomotor apraxia type 4 DOID:0081383 MONDO:equivalentTo ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616267 MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 DOID:0070436 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome 6 -MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 DOID:0070437 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616809 -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome DOID:0070431 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphosphatasia with mental retardation syndrome -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome DOID:0070431 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mabry syndrome -MONDO:0018875 Li-Fraumeni syndrome DOID:0111503 MONDO:equivalentTo Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:151623 -MONDO:0019349 Sotos syndrome DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:117550 -MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 DOID:0070465 MONDO:equivalentTo spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618387 -MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 DOID:0070463 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618120 -MONDO:0030005 epilepsy, early-onset, with or without developmental delay DOID:0070471 MONDO:equivalentTo early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618832 -MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 DOID:0081376 MONDO:equivalentTo sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618912 -MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) DOID:0070447 MONDO:equivalentTo mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619425 -MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) DOID:0070451 MONDO:equivalentTo mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619780 -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia DOID:0081380 MONDO:equivalentTo amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619133 -MONDO:0031019 spastic paraplegia 87, autosomal recessive DOID:0070456 MONDO:equivalentTo hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619966 -MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 MONDO:equivalentTo diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym developmental delay with short stature, dysmorphic facial features, and sparse hair -MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) DOID:0070446 MONDO:equivalentTo mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618528 +MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 DOID:0070437 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616809 +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome DOID:0070431 MONDO:equivalentTo hyperphosphatasia with impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:239300 +MONDO:0018130 brain dopamine-serotonin vesicular transport disease DOID:0070490 MONDO:equivalentTo infantile parkinsonism-dystonia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618049 +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome DOID:0081386 MONDO:equivalentTo TANGO2-related metabolic encephalopathy and arrythmias semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616878 +MONDO:0018875 Li-Fraumeni syndrome DOID:0111503 MONDO:equivalentTo Li-Fraumeni syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:151623 +MONDO:0019349 Sotos syndrome DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:117550 +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 DOID:0070465 MONDO:equivalentTo spinocerebellar ataxia with axonal neuropathy type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618387 +MONDO:0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 DOID:0070463 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618120 +MONDO:0024557 ataxia-telangiectasia-like disorder 1 DOID:0081384 MONDO:equivalentTo ataxia-telangiectasia-like disorder-1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:604391 +MONDO:0030005 epilepsy, early-onset, with or without developmental delay DOID:0070471 MONDO:equivalentTo early-onset epilepsy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618832 +MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 DOID:0081376 MONDO:equivalentTo sorbitol dehydrogenase deficiency with peripheral neuropathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618912 +MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) DOID:0070447 MONDO:equivalentTo mitochondrial DNA depletion syndrome 16B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619425 +MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic DOID:0060917 MONDO:equivalentTo facioscapulohumeral muscular dystrophy 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619477 +MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic DOID:0060918 MONDO:equivalentTo facioscapulohumeral muscular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619478 +MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) DOID:0070451 MONDO:equivalentTo mitochondrial DNA depletion syndrome 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619780 +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia DOID:0081380 MONDO:equivalentTo amyotrophic lateral sclerosis type 26 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619133 +MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 DOID:0060919 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619175 +MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 DOID:0060915 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619183 +MONDO:0031019 spastic paraplegia 87, autosomal recessive DOID:0070456 MONDO:equivalentTo hereditary spastic paraplegia 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619966 +MONDO:0031166 macular dystrophy, retinal DOID:0070438 MONDO:equivalentTo retinal macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:136550 +MONDO:0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair DOID:0070476 MONDO:equivalentTo diphthamide deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:616901 +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis DOID:0081398 MONDO:equivalentTo holoprosencephaly 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618500 +MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) DOID:0070446 MONDO:equivalentTo mitochondrial DNA depletion syndrome 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618528 +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal DOID:0081396 MONDO:equivalentTo neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618810 +MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant DOID:0070470 MONDO:equivalentTo chromosome 1p36.33 duplication syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618815 +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 DOID:0070492 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619046 +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 DOID:0070493 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619048 +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 DOID:0070494 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619051 +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 DOID:0070495 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619052 +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 DOID:0070496 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619053 +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 DOID:0070497 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 11 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619054 +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 DOID:0070498 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 12 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619055 +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 DOID:0070499 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 14 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619058 +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 DOID:0070500 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619059 +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 DOID:0070501 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 16 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619060 +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 DOID:0070502 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619061 +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 DOID:0070503 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619062 +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 DOID:0070504 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619063 +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 DOID:0070505 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619064 +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 DOID:0070506 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619065 MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria -MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 DOID:0081378 MONDO:equivalentTo amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617892 -MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 DOID:0081379 MONDO:equivalentTo amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617921 -MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 DOID:0070478 MONDO:equivalentTo diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620062 -MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 DOID:0070477 MONDO:equivalentTo diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616901 -MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia DOID:0070445 MONDO:equivalentTo early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619681 -MONDO:0859309 spastic paraplegia 88, autosomal dominant DOID:0070457 MONDO:equivalentTo hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620106 -MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia DOID:0070455 MONDO:equivalentTo hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620221 -MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile DOID:0081381 MONDO:equivalentTo juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620285 -MONDO:0859568 macular dystrophy, retinal, 4 DOID:0070441 MONDO:equivalentTo retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619977 -MONDO:0957221 spastic paraplegia 70, autosomal recessive DOID:0070454 MONDO:equivalentTo hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620323 -MONDO:0957224 congenital myopathy 21 with early respiratory failure DOID:0081353 MONDO:equivalentTo congenital myopathy 21 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620326 -MONDO:0957247 congenital myopathy 22A, classic DOID:0081354 MONDO:equivalentTo congenital myopathy 22A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620351 -MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A DOID:0070461 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620358 -MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 DOID:0070464 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620359 -MONDO:0957265 congenital myopathy 22B, severe fetal DOID:0081355 MONDO:equivalentTo congenital myopathy 22B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620369 -MONDO:0957274 spastic paraplegia 89, autosomal recessive DOID:0070458 MONDO:equivalentTo hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620379 -MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset DOID:0081374 MONDO:equivalentTo nemaline myopathy 5B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620386 -MONDO:0957284 nemaline myopathy 5C, autosomal dominant DOID:0081375 MONDO:equivalentTo nemaline myopathy 5C semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620389 -MONDO:0957308 spastic paraplegia 90A, autosomal dominant DOID:0070459 MONDO:equivalentTo hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620416 -MONDO:0957309 spastic paraplegia 90B, autosomal recessive DOID:0070460 MONDO:equivalentTo hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620417 +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder DOID:0070474 MONDO:equivalentTo childhood-onset neurodegeneration with brain atrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617672 +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 DOID:0060914 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618048 +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 DOID:0081378 MONDO:equivalentTo amyotrophic lateral sclerosis type 24 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617892 +MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 DOID:0081379 MONDO:equivalentTo amyotrophic lateral sclerosis type 25 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617921 +MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 DOID:0070478 MONDO:equivalentTo diphthamide deficiency syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620062 +MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome DOID:0070487 MONDO:equivalentTo dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome +MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 DOID:0070477 MONDO:equivalentTo diphthamide deficiency syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616901 +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 DOID:0070507 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 22 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619355 +MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia DOID:0070445 MONDO:equivalentTo early-onset dystonia and/or spastic paraplegia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619681 +MONDO:0859309 spastic paraplegia 88, autosomal dominant DOID:0070457 MONDO:equivalentTo hereditary spastic paraplegia 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620106 +MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia DOID:0070455 MONDO:equivalentTo hereditary spastic paraplegia 79A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620221 +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 DOID:0070485 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 23 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620275 +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile DOID:0081381 MONDO:equivalentTo juvenile amyotrophic lateral sclerosis type 27 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620285 +MONDO:0859568 macular dystrophy, retinal, 4 DOID:0070441 MONDO:equivalentTo retinal macular dystrophy 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619977 +MONDO:0957203 intellectual developmental disorder, X-linked 111 DOID:0060929 MONDO:equivalentTo non-syndromic X-linked intellectual developmental disorder 111 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301107 +MONDO:0957221 spastic paraplegia 70, autosomal recessive DOID:0070454 MONDO:equivalentTo hereditary spastic paraplegia 70 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620323 +MONDO:0957224 congenital myopathy 21 with early respiratory failure DOID:0081353 MONDO:equivalentTo congenital myopathy 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620326 +MONDO:0957247 congenital myopathy 22A, classic DOID:0081354 MONDO:equivalentTo congenital myopathy 22A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620351 +MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A DOID:0070461 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620358 +MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 DOID:0070464 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620359 +MONDO:0957265 congenital myopathy 22B, severe fetal DOID:0081355 MONDO:equivalentTo congenital myopathy 22B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620369 +MONDO:0957274 spastic paraplegia 89, autosomal recessive DOID:0070458 MONDO:equivalentTo hereditary spastic paraplegia 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620379 +MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset DOID:0081374 MONDO:equivalentTo nemaline myopathy 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620386 +MONDO:0957284 nemaline myopathy 5C, autosomal dominant DOID:0081375 MONDO:equivalentTo nemaline myopathy 5C semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620389 +MONDO:0957308 spastic paraplegia 90A, autosomal dominant DOID:0070459 MONDO:equivalentTo hereditary spastic paraplegia 90A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620416 +MONDO:0957309 spastic paraplegia 90B, autosomal recessive DOID:0070460 MONDO:equivalentTo hereditary spastic paraplegia 90B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620417 MONDO:0957497 disabling pansclerotic morphea of childhood DOID:0081373 MONDO:equivalentTo disabling pansclerotic morphea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disabling pansclerotic morphea of childhood -MONDO:0957538 amyotrophic lateral sclerosis 28 DOID:0081382 MONDO:equivalentTo amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620452 +MONDO:0957538 amyotrophic lateral sclerosis 28 DOID:0081382 MONDO:equivalentTo amyotrophic lateral sclerosis type 28 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620452 +MONDO:0957541 neurodevelopmental disorder with hypotonia and speech delay, with or without seizures DOID:0070512 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and speech delay semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620455 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index d92b9d30..7726ed8d 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -1,32 +1,61 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0007630 North Carolina macular dystrophy DOID:0070439 MONDO:equivalentTo North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 -MONDO:0007872 LADD syndrome DOID:0081370 MONDO:equivalentTo LADD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ladd syndrome -MONDO:0008672 Watson syndrome DOID:0070483 MONDO:equivalentTo Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 -MONDO:0010209 xanthinuria type I DOID:0070452 MONDO:equivalentTo xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 -MONDO:0011346 xanthinuria type II DOID:0070453 MONDO:equivalentTo xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 -MONDO:0012669 Legius syndrome DOID:0070484 MONDO:equivalentTo Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 -MONDO:0014299 schwannomatosis 2 DOID:0070481 MONDO:equivalentTo schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 -MONDO:0020730 carpal tunnel syndrome 1 DOID:0070466 MONDO:equivalentTo carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 -MONDO:0024517 schwannomatosis 1 DOID:0070480 MONDO:equivalentTo schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 -MONDO:0030020 combined oxidative phosphorylation deficiency 44 DOID:0070424 MONDO:equivalentTo combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 -MONDO:0030311 combined oxidative phosphorylation deficiency 52 DOID:0070425 MONDO:equivalentTo combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 -MONDO:0030378 combined oxidative phosphorylation deficiency 53 DOID:0070426 MONDO:equivalentTo combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 -MONDO:0030543 combined oxidative phosphorylation deficiency 54 DOID:0070427 MONDO:equivalentTo combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 -MONDO:0030883 carpal tunnel syndrome 2 DOID:0070467 MONDO:equivalentTo carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161 -MONDO:0032815 mitochondrial DNA depletion syndrome 17 DOID:0070448 MONDO:equivalentTo mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 -MONDO:0032932 mitochondrial DNA depletion syndrome 18 DOID:0070449 MONDO:equivalentTo mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 -MONDO:0033545 mitochondrial DNA depletion syndrome 19 DOID:0070450 MONDO:equivalentTo mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 -MONDO:0054560 anauxetic dysplasia 1 DOID:0050640 MONDO:equivalentTo anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 -MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction DOID:0070443 MONDO:equivalentTo neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 -MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum DOID:0070469 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 -MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome DOID:0070468 MONDO:equivalentTo Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 -MONDO:0859228 combined oxidative phosphorylation deficiency 55 DOID:0070428 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 -MONDO:0859256 neurodevelopmental disorder with language delay and seizures DOID:0070444 MONDO:equivalentTo neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 -MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DOID:0070479 MONDO:equivalentTo neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 -MONDO:0859323 combined oxidative phosphorylation deficiency 56 DOID:0070429 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 -MONDO:0859337 combined oxidative phosphorylation deficiency 57 DOID:0070430 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 -MONDO:0859577 lacrimoauriculodentodigital syndrome 2 DOID:0081371 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 -MONDO:0859578 lacrimoauriculodentodigital syndrome 3 DOID:0081372 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 -MONDO:0957215 congenital myopathy 20 DOID:0081352 MONDO:equivalentTo congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 -MONDO:0957248 developmental and epileptic encephalopathy 31B DOID:0070376 MONDO:equivalentTo developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 +MONDO:0007630 North Carolina macular dystrophy DOID:0070439 MONDO:equivalentTo North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c537835 +MONDO:0007630 North Carolina macular dystrophy DOID:0070439 MONDO:equivalentTo North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:136550 +MONDO:0007872 LADD syndrome DOID:0081370 MONDO:equivalentTo LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:149730 +MONDO:0008164 otosclerosis 1 DOID:0060920 MONDO:equivalentTo otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:166800 +MONDO:0008672 Watson syndrome DOID:0070483 MONDO:equivalentTo Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:193520 +MONDO:0009726 proteosome-associated autoinflammatory syndrome DOID:0060913 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:256040 +MONDO:0010209 xanthinuria type I DOID:0070452 MONDO:equivalentTo xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:278300 +MONDO:0010857 semantic dementia DOID:0081391 MONDO:equivalentTo semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia +MONDO:0011346 xanthinuria type II DOID:0070453 MONDO:equivalentTo xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:603592 +MONDO:0011586 otosclerosis 2 DOID:0060921 MONDO:equivalentTo otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605727 +MONDO:0011999 otosclerosis 3 DOID:0060922 MONDO:equivalentTo otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608244 +MONDO:0012121 otosclerosis 5 DOID:0060924 MONDO:equivalentTo otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:608787 +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy DOID:0070511 MONDO:equivalentTo polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c567020 +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy DOID:0070511 MONDO:equivalentTo polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611087 +MONDO:0012669 Legius syndrome DOID:0070484 MONDO:equivalentTo Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c548032 +MONDO:0012669 Legius syndrome DOID:0070484 MONDO:equivalentTo Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611431 +MONDO:0012696 otosclerosis 4 DOID:0060923 MONDO:equivalentTo otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611571 +MONDO:0012697 otosclerosis 7 DOID:0060925 MONDO:equivalentTo otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:611572 +MONDO:0012797 otosclerosis 8 DOID:0060926 MONDO:equivalentTo otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:612096 +MONDO:0014264 otosclerosis 10 DOID:0060927 MONDO:equivalentTo otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615589 +MONDO:0014299 schwannomatosis 2 DOID:0070481 MONDO:equivalentTo schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615670 +MONDO:0014958 Harel-Yoon syndrome DOID:0081395 MONDO:equivalentTo Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617183 +MONDO:0015059 progressive non-fluent aphasia DOID:0081390 MONDO:equivalentTo progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia +MONDO:0016644 logopenic progressive aphasia DOID:0081389 MONDO:equivalentTo logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia +MONDO:0018808 Caroli syndrome DOID:0081394 MONDO:equivalentTo Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome +MONDO:0019806 primary progressive aphasia DOID:0081388 MONDO:equivalentTo primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia +MONDO:0020730 carpal tunnel syndrome 1 DOID:0070466 MONDO:equivalentTo carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:115430 +MONDO:0024517 schwannomatosis 1 DOID:0070480 MONDO:equivalentTo schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:162091 +MONDO:0030020 combined oxidative phosphorylation deficiency 44 DOID:0070424 MONDO:equivalentTo combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618855 +MONDO:0030073 Mitchell syndrome DOID:0070516 MONDO:equivalentTo Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618960 +MONDO:0030311 combined oxidative phosphorylation deficiency 52 DOID:0070425 MONDO:equivalentTo combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619386 +MONDO:0030378 combined oxidative phosphorylation deficiency 53 DOID:0070426 MONDO:equivalentTo combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619423 +MONDO:0030543 combined oxidative phosphorylation deficiency 54 DOID:0070427 MONDO:equivalentTo combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619737 +MONDO:0030883 carpal tunnel syndrome 2 DOID:0070467 MONDO:equivalentTo carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619161 +MONDO:0032815 mitochondrial DNA depletion syndrome 17 DOID:0070448 MONDO:equivalentTo mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618567 +MONDO:0032932 mitochondrial DNA depletion syndrome 18 DOID:0070449 MONDO:equivalentTo mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618811 +MONDO:0033545 mitochondrial DNA depletion syndrome 19 DOID:0070450 MONDO:equivalentTo mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618972 +MONDO:0033618 Vissers-Bodmer syndrome DOID:0081397 MONDO:equivalentTo Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619033 +MONDO:0044315 craniosynostosis 7 DOID:0060912 MONDO:equivalentTo craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617439 +MONDO:0054560 anauxetic dysplasia 1 DOID:0050640 MONDO:equivalentTo anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:607095 +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 DOID:0060916 MONDO:equivalentTo proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617591 +MONDO:0054835 classic dopamine transporter deficiency syndrome DOID:0070489 MONDO:equivalentTo classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613135 +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies DOID:0070514 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617755 +MONDO:0700200 atypical dopamine transporter deficiency syndrome DOID:0070488 MONDO:equivalentTo atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome +MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction DOID:0070443 MONDO:equivalentTo neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619333 +MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum DOID:0070469 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619480 +MONDO:0859209 Zaki syndrome DOID:0070473 MONDO:equivalentTo Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619648 +MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome DOID:0070468 MONDO:equivalentTo Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619701 +MONDO:0859228 combined oxidative phosphorylation deficiency 55 DOID:0070428 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619743 +MONDO:0859256 neurodevelopmental disorder with language delay and seizures DOID:0070444 MONDO:equivalentTo neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619908 +MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DOID:0070479 MONDO:equivalentTo neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620070 +MONDO:0859323 combined oxidative phosphorylation deficiency 56 DOID:0070429 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620139 +MONDO:0859337 combined oxidative phosphorylation deficiency 57 DOID:0070430 MONDO:equivalentTo combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620167 +MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses DOID:0070510 MONDO:equivalentTo inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620199 +MONDO:0859577 lacrimoauriculodentodigital syndrome 2 DOID:0081371 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620192 +MONDO:0859578 lacrimoauriculodentodigital syndrome 3 DOID:0081372 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620193 +MONDO:0957215 congenital myopathy 20 DOID:0081352 MONDO:equivalentTo congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620310 +MONDO:0957248 developmental and epileptic encephalopathy 31B DOID:0070376 MONDO:equivalentTo developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620352 +MONDO:0957386 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities DOID:0081387 MONDO:equivalentTo neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620428 diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index 43067c98..bf7959c1 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -680,7 +680,7 @@ MONDO:0007009 ureterolithiasis ICD10CM:N20.1 MONDO:equivalentTo Calculus of uret MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uveoparotid fever MONDO:0007011 uveoparotid fever ICD10CM:D86.89 MONDO:equivalentTo Sarcoidosis of other sites semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uveoparotid fever MONDO:0007017 vitreous detachment ICD10CM:H43.81 MONDO:equivalentTo Vitreous degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitreous detachment -MONDO:0007027 non-alcoholic steatohepatitis ICD10CM:K75.81 MONDO:equivalentTo Nonalcoholic steatohepatitis (NASH) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic steatohepatitis +MONDO:0007027 metabolic dysfunction-associated steatohepatitis ICD10CM:K75.81 MONDO:equivalentTo Nonalcoholic steatohepatitis (NASH) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic steatohepatitis MONDO:0007099 familial visceral amyloidosis ICD10CM:E85.0 MONDO:equivalentTo Non-neuropathic heredofamilial amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10CM:M48.1 MONDO:equivalentTo Ankylosing hyperostosis [Forestier] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis @@ -949,7 +949,6 @@ MONDO:0010098 taurodontism ICD10CM:K00.2 MONDO:equivalentTo Abnormalities of siz MONDO:0010138 thyrotoxicosis ICD10CM:E05 MONDO:equivalentTo Thyrotoxicosis [hyperthyroidism] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyrotoxicosis MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym weaver syndrome MONDO:0010193 Weaver syndrome ICD10CM:Q87.3 MONDO:equivalentTo Congenital malformation syndromes involving early overgrowth semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym weaver syndrome -MONDO:0010200 Wilson disease ICD10CM:E83.01 MONDO:equivalentTo Wilson's disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wilson's disease MONDO:0010229 alopecia, congenital ICD10CM:Q84.0 MONDO:equivalentTo Congenital alopecia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alopecia MONDO:0010269 Coats disease ICD10CM:H35.02 MONDO:equivalentTo Exudative retinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exudative retinopathy MONDO:0010383 fragile X syndrome ICD10CM:Q99.2 MONDO:equivalentTo Fragile X chromosome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fragile x syndrome @@ -964,7 +963,6 @@ MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX d MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary factor ix deficiency MONDO:0010604 hemophilia B ICD10CM:D67 MONDO:equivalentTo Hereditary factor IX deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemophilia b MONDO:0010622 recessive X-linked ichthyosis ICD10CM:Q80.1 MONDO:equivalentTo X-linked ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked ichthyosis -MONDO:0010683 X-linked centronuclear myopathy ICD10CM:G71.220 MONDO:equivalentTo X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked myotubular myopathy MONDO:0010703 ornithine carbamoyltransferase deficiency ICD10CM:E72.4 MONDO:equivalentTo Disorders of ornithine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency MONDO:0010788 Leber hereditary optic neuropathy ICD10CM:H47.22 MONDO:equivalentTo Hereditary optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leber's optic atrophy MONDO:0010805 bladder exstrophy ICD10CM:Q64.10 MONDO:equivalentTo Exstrophy of urinary bladder, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectopia vesicae @@ -1004,6 +1002,7 @@ MONDO:0012897 congenital factor XI deficiency ICD10CM:D68.1 MONDO:equivalentTo H MONDO:0013028 adenosine monophosphate deaminase deficiency ICD10CM:E79.2 MONDO:equivalentTo Myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoadenylate deaminase deficiency MONDO:0013144 hereditary antithrombin deficiency ICD10CM:D68.59 MONDO:equivalentTo Other primary thrombophilia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym antithrombin iii deficiency MONDO:0013166 GABA aminotransaminase deficiency ICD10CM:E72.81 MONDO:equivalentTo Disorders of gamma aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaba transaminase deficiency +MONDO:0013209 metabolic dysfunction-associated steatotic liver disease ICD10CM:K76.0 MONDO:equivalentTo Fatty (change of) liver, not elsewhere classified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonalcoholic fatty liver disease MONDO:0013300 commissural facial cleft ICD10CM:Q18.4 MONDO:equivalentTo Macrostomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrostomia MONDO:0013571 acatalasia ICD10CM:E80.3 MONDO:equivalentTo Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acatalasia MONDO:0013571 acatalasia ICD10CM:E80.3 MONDO:equivalentTo Defects of catalase and peroxidase semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acatalasia diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv index ce3c5d61..ad049650 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv @@ -228,6 +228,7 @@ MONDO:0009067 cystinuria ICD10CM:E72.01 MONDO:equivalentTo Cystinuria semapv:Lex MONDO:0009756 Niemann-Pick disease type A ICD10CM:E75.240 MONDO:equivalentTo Niemann-Pick disease type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type a MONDO:0009887 desquamative interstitial pneumonia ICD10CM:J84.117 MONDO:equivalentTo Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia MONDO:0010631 incontinentia pigmenti ICD10CM:Q82.3 MONDO:equivalentTo Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti +MONDO:0010683 X-linked myotubular myopathy ICD10CM:G71.220 MONDO:equivalentTo X-linked myotubular myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myotubular myopathy MONDO:0010787 Kearns-Sayre syndrome ICD10CM:H49.81 MONDO:equivalentTo Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kearns-sayre syndrome MONDO:0010811 benign prostatic hyperplasia ICD10CM:N40 MONDO:equivalentTo Benign prostatic hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign prostatic hyperplasia MONDO:0010837 primary hyperparathyroidism ICD10CM:E21.0 MONDO:equivalentTo Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperparathyroidism diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv index 682d3108..b40065ea 100644 --- a/src/ontology/lexmatch/unmapped_icd10who_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10who_lex.tsv @@ -341,6 +341,7 @@ MONDO:0011429 juvenile idiopathic arthritis ICD10WHO:M08.0 MONDO:equivalentTo Ju MONDO:0011438 acne ICD10WHO:L70.0 MONDO:equivalentTo Acne vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne vulgaris MONDO:0011438 acne ICD10WHO:L70.2 MONDO:equivalentTo Acne varioliformis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acne varioliformis MONDO:0011644 pars planitis ICD10WHO:H30.2 MONDO:equivalentTo Posterior cyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label posterior cyclitis +MONDO:0011728 benign essential blepharospasm ICD10WHO:G24.5 MONDO:equivalentTo Blepharospasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blepharospasm MONDO:0011849 psoriatic arthritis ICD10WHO:L40.5 MONDO:equivalentTo Arthropathic psoriasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arthropathic psoriasis MONDO:0012105 granulomatosis with polyangiitis ICD10WHO:M31.3 MONDO:equivalentTo Wegener granulomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wegener granulomatosis MONDO:0012456 congenital primary aphakia ICD10WHO:Q12.3 MONDO:equivalentTo Congenital aphakia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital aphakia diff --git a/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv index 96f29a0e..4c079551 100644 --- a/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd10who_lex_exact.tsv @@ -509,7 +509,6 @@ MONDO:0010947 Budd-Chiari syndrome ICD10WHO:I82.0 MONDO:equivalentTo Budd-Chiari MONDO:0011284 astigmatism ICD10WHO:H52.2 MONDO:equivalentTo Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism MONDO:0011438 acne ICD10WHO:L70 MONDO:equivalentTo Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne MONDO:0011662 pathological gambling ICD10WHO:F63.0 MONDO:equivalentTo Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling -MONDO:0011728 blepharospasm ICD10WHO:G24.5 MONDO:equivalentTo Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm MONDO:0011827 patent ductus arteriosus ICD10WHO:Q25.0 MONDO:equivalentTo Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus MONDO:0011989 leishmaniasis ICD10WHO:B55 MONDO:equivalentTo Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis MONDO:0012155 choanal atresia ICD10WHO:Q30.0 MONDO:equivalentTo Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia diff --git a/src/ontology/lexmatch/unmapped_ncit_lex.tsv b/src/ontology/lexmatch/unmapped_ncit_lex.tsv index 4b3de594..eb6140d8 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex.tsv @@ -22,7 +22,6 @@ MONDO:0004526 mixed endometrial stromal and smooth muscle tumor NCIT:C40179 MOND MONDO:0004724 submandibular gland cancer NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm MONDO:0004957 mucinous adenocarcinoma NCIT:C27379 MONDO:equivalentTo Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma MONDO:0005004 clear cell adenocarcinoma NCIT:C4156 MONDO:equivalentTo Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma -MONDO:0006053 renal leiomyoma NCIT:C159209 MONDO:equivalentTo Kidney Leiomyoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney leiomyoma MONDO:0006295 malignant urinary system neoplasm NCIT:C192668 MONDO:equivalentTo Malignant Urinary Tract Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant urinary tract neoplasm MONDO:0006329 olfactory neuroblastoma NCIT:C6016 MONDO:equivalentTo Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma MONDO:0006363 peritoneal multicystic mesothelioma NCIT:C3765 MONDO:equivalentTo Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 5a3427d9..80705e64 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -4,4 +4,3 @@ MONDO:0007187 nevoid basal cell carcinoma syndrome OMIMPS:109400 MONDO:equivalen MONDO:0007239 epidermolytic ichthyosis OMIMPS:113800 MONDO:equivalentTo Epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolytic hyperkeratosis MONDO:0012033 bradyopsia OMIMPS:608415 MONDO:equivalentTo Prolonged electroretinal response suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prolonged electroretinal response suppression MONDO:0015397 craniofacial microsomia 1 OMIMPS:164210 MONDO:equivalentTo Craniofacial Microsomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofacial microsomia -MONDO:0100433 ACTB-associated syndromic thrombocytopenia OMIM:620475 MONDO:equivalentTo thrombocytopenia 8, with dysmorphic features and developmental delay semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym actb-associated syndromic thrombocytopenia diff --git a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv index cea8f2d8..12f22c1b 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv @@ -1,11 +1,11 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0007607 Birt-Hogg-Dube syndrome OMIMPS:135150 MONDO:equivalentTo Birt-Hogg-Dube syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label birt-hogg-dube syndrome +MONDO:0002010 FG syndrome OMIMPS:305450 MONDO:equivalentTo FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome MONDO:0007709 hematuria, benign familial OMIMPS:141200 MONDO:equivalentTo Hematuria, benign familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hematuria, benign familial MONDO:0008116 oculopharyngeal muscular dystrophy OMIMPS:164300 MONDO:equivalentTo Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy MONDO:0009813 chronic recurrent multifocal osteomyelitis OMIMPS:609628 MONDO:equivalentTo Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic recurrent multifocal osteomyelitis -MONDO:0010204 lysosomal acid lipase deficiency OMIMPS:278000 MONDO:equivalentTo Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid lipase deficiency MONDO:0011612 glycine encephalopathy OMIMPS:605899 MONDO:equivalentTo Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy MONDO:0012172 mitochondrial trifunctional protein deficiency OMIMPS:609015 MONDO:equivalentTo Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency MONDO:0013343 C1Q deficiency OMIMPS:613652 MONDO:equivalentTo C1q deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c1q deficiency MONDO:0018875 Li-Fraumeni syndrome OMIMPS:151623 MONDO:equivalentTo Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 MONDO:equivalentTo Leber hereditary optic neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy, autosomal recessive diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index 3062cd7e..76eecaec 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -1,4252 +1,22 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000001 disease Orphanet:557493 MONDO:equivalentTo disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder -MONDO:0000023 infantile liver failure Orphanet:464724 MONDO:equivalentTo Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fever-associated acute infantile liver failure syndrome -MONDO:0000050 isolated congenital growth hormone deficiency Orphanet:631 MONDO:equivalentTo Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ighd -MONDO:0000050 isolated congenital growth hormone deficiency Orphanet:631 MONDO:equivalentTo Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital isolated gh deficiency -MONDO:0000050 isolated congenital growth hormone deficiency Orphanet:631 MONDO:equivalentTo Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome Orphanet:2268 MONDO:equivalentTo ICF syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome Orphanet:2268 MONDO:equivalentTo ICF syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome -MONDO:0000170 microphthalmia, isolated, with coloboma Orphanet:98938 MONDO:equivalentTo Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst -MONDO:0000170 microphthalmia, isolated, with coloboma Orphanet:98938 MONDO:equivalentTo Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-anophthalmia-coloboma syndrome -MONDO:0000170 microphthalmia, isolated, with coloboma Orphanet:98938 MONDO:equivalentTo Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colobomatous microphthalmia -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A Orphanet:899 MONDO:equivalentTo Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard syndrome -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A Orphanet:899 MONDO:equivalentTo Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephalus-agyria-retinal dysplasia syndrome -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A Orphanet:899 MONDO:equivalentTo Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label walker-warburg syndrome -MONDO:0000193 cortisone reductase deficiency Orphanet:168588 MONDO:equivalentTo Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 11-beta-hydroxysteroid dehydrogenase deficiency type 1 -MONDO:0000193 cortisone reductase deficiency Orphanet:168588 MONDO:equivalentTo Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperandrogenism due to cortisone reductase deficiency -MONDO:0000211 striatal degeneration, autosomal dominant Orphanet:228169 MONDO:equivalentTo Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant striatal neurodegeneration -MONDO:0000212 hypercalcemia, infantile Orphanet:300547 MONDO:equivalentTo Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial infantile hypercalcemia with suppressed intact parathyroid hormone -MONDO:0000212 hypercalcemia, infantile Orphanet:300547 MONDO:equivalentTo Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive infantile hypercalcemia -MONDO:0000330 endemic typhus Orphanet:83315 MONDO:equivalentTo Murine typhus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label murine typhus -MONDO:0000330 endemic typhus Orphanet:83315 MONDO:equivalentTo Murine typhus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endemic typhus -MONDO:0000355 Ullrich congenital muscular dystrophy Orphanet:75840 MONDO:equivalentTo Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scleroatonic muscular dystrophy -MONDO:0000365 primary congenital glaucoma Orphanet:98976 MONDO:equivalentTo Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital glaucoma -MONDO:0000365 primary congenital glaucoma Orphanet:98976 MONDO:equivalentTo Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary congenital glaucoma -MONDO:0000408 fetal alcohol spectrum disorder Orphanet:1915 MONDO:equivalentTo Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders -MONDO:0000447 autosomal dominant polycystic liver disease Orphanet:2924 MONDO:equivalentTo Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated polycystic liver disease -MONDO:0000447 autosomal dominant polycystic liver disease Orphanet:2924 MONDO:equivalentTo Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant polycystic liver disease -MONDO:0000455 cone dystrophy Orphanet:1871 MONDO:equivalentTo Progressive cone dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cone dystrophy -MONDO:0000455 cone dystrophy Orphanet:1871 MONDO:equivalentTo Progressive cone dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone dystrophy -MONDO:0000456 cerebral creatine deficiency syndrome Orphanet:79172 MONDO:equivalentTo Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral creatine deficiency syndrome -MONDO:0000456 cerebral creatine deficiency syndrome Orphanet:79172 MONDO:equivalentTo Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label creatine deficiency syndrome -MONDO:0000456 cerebral creatine deficiency syndrome Orphanet:79172 MONDO:equivalentTo Creatine deficiency syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral creatine deficiency syndrome -MONDO:0000476 generalized dystonia Orphanet:376724 MONDO:equivalentTo Generalized isolated dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized isolated dystonia -MONDO:0000608 familial juvenile hyperuricemic nephropathy Orphanet:34149 MONDO:equivalentTo Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy -MONDO:0000608 familial juvenile hyperuricemic nephropathy Orphanet:34149 MONDO:equivalentTo Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm Orphanet:251870 MONDO:equivalentTo Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm Orphanet:251870 MONDO:equivalentTo Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cns pnet -MONDO:0000645 fallopian tube benign neoplasm Orphanet:180237 MONDO:equivalentTo Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign tumor of fallopian tubes -MONDO:0000688 inborn organic aciduria Orphanet:289899 MONDO:equivalentTo Organic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label organic aciduria -MONDO:0000827 salmonellosis Orphanet:795 MONDO:equivalentTo Rare form of salmonellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare form of salmonellosis -MONDO:0000845 fibrous dysplasia Orphanet:249 MONDO:equivalentTo Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrous dysplasia of bone MONDO:0000859 spina bifida occulta Orphanet:645202 MONDO:equivalentTo Closed spinal dysraphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida occulta MONDO:0000859 spina bifida occulta Orphanet:645202 MONDO:equivalentTo Closed spinal dysraphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label closed spinal dysraphism MONDO:0000859 spina bifida occulta Orphanet:645202 MONDO:equivalentTo Closed spinal dysraphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida occulta -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia Orphanet:2598 MONDO:equivalentTo Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, lactic acidosis and sideroblastic anemia -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia Orphanet:2598 MONDO:equivalentTo Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy Orphanet:1496 MONDO:equivalentTo Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym andermann syndrome -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy Orphanet:1496 MONDO:equivalentTo Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charlevoix disease -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy Orphanet:1496 MONDO:equivalentTo Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label corpus callosum agenesis-neuronopathy syndrome -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Orphanet:136 MONDO:equivalentTo Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary multi-infarct dementia -MONDO:0001029 Klippel-Feil syndrome Orphanet:2345 MONDO:equivalentTo Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-feil sequence -MONDO:0001195 spotted fever Orphanet:102022 MONDO:equivalentTo Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spotted fever rickettsiae disease -MONDO:0001195 spotted fever Orphanet:102022 MONDO:equivalentTo Spotted fever rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spotted fever rickettsiosis -MONDO:0001246 typhus Orphanet:102023 MONDO:equivalentTo Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym typhus-group rickettsiae disease -MONDO:0001246 typhus Orphanet:102023 MONDO:equivalentTo Typhus-group rickettsiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label typhus-group rickettsiosis -MONDO:0001280 choroiditis Orphanet:280892 MONDO:equivalentTo Posterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroiditis -MONDO:0001280 choroiditis Orphanet:280892 MONDO:equivalentTo Posterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroiditis -MONDO:0001325 penile cancer Orphanet:398043 MONDO:equivalentTo Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancer of penis -MONDO:0001325 penile cancer Orphanet:398043 MONDO:equivalentTo Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant penile tumor -MONDO:0001325 penile cancer Orphanet:398043 MONDO:equivalentTo Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile cancer -MONDO:0001325 penile cancer Orphanet:398043 MONDO:equivalentTo Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant tumor of penis -MONDO:0001325 penile cancer Orphanet:398043 MONDO:equivalentTo Malignant tumor of penis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym penile cancer -MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet:269 MONDO:equivalentTo Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet:269 MONDO:equivalentTo Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral myopathy -MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet:269 MONDO:equivalentTo Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fsh dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet:269 MONDO:equivalentTo Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landouzy-dejerine myopathy -MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet:269 MONDO:equivalentTo Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facioscapulohumeral dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet:269 MONDO:equivalentTo Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facioscapulohumeral muscular dystrophy -MONDO:0001444 Chagas disease Orphanet:3386 MONDO:equivalentTo American trypanosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chagas disease -MONDO:0001444 Chagas disease Orphanet:3386 MONDO:equivalentTo American trypanosomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chagas disease -MONDO:0001466 punctate epithelial keratoconjunctivitis Orphanet:519406 MONDO:equivalentTo Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thygeson superficial punctate keratitis -MONDO:0001549 hemolytic-uremic syndrome Orphanet:544458 MONDO:equivalentTo Hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemolytic uremic syndrome -MONDO:0001569 acoustic neuroma Orphanet:252175 MONDO:equivalentTo Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurilemoma -MONDO:0001569 acoustic neuroma Orphanet:252175 MONDO:equivalentTo Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neurinoma -MONDO:0001569 acoustic neuroma Orphanet:252175 MONDO:equivalentTo Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acoustic neuroma -MONDO:0001569 acoustic neuroma Orphanet:252175 MONDO:equivalentTo Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vestibular schwannoma -MONDO:0001569 acoustic neuroma Orphanet:252175 MONDO:equivalentTo Vestibular schwannoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acoustic neuroma -MONDO:0001595 choreatic disease Orphanet:1429 MONDO:equivalentTo Benign hereditary chorea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial chorea -MONDO:0001703 color vision disorder Orphanet:98658 MONDO:equivalentTo Color-vision disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label color-vision disease -MONDO:0001734 tuberous sclerosis Orphanet:805 MONDO:equivalentTo Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bourneville syndrome -MONDO:0001734 tuberous sclerosis Orphanet:805 MONDO:equivalentTo Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis -MONDO:0001734 tuberous sclerosis Orphanet:805 MONDO:equivalentTo Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tuberous sclerosis complex -MONDO:0001734 tuberous sclerosis Orphanet:805 MONDO:equivalentTo Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tuberous sclerosis -MONDO:0001818 facial neuralgia Orphanet:221109 MONDO:equivalentTo Cranial neuralgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facial neuralgia -MONDO:0001881 toxic shock syndrome Orphanet:36234 MONDO:equivalentTo Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial tss -MONDO:0001881 toxic shock syndrome Orphanet:36234 MONDO:equivalentTo Bacterial toxic-shock syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bacterial toxic-shock syndrome -MONDO:0001901 selective IgG subclass deficiency Orphanet:183675 MONDO:equivalentTo Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym selective igg subclass deficiency -MONDO:0001907 adult dermatomyositis Orphanet:221 MONDO:equivalentTo Dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult dermatomyositis -MONDO:0001945 postencephalitic Parkinson disease Orphanet:97349 MONDO:equivalentTo Postencephalitic parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postencephalitic parkinsonism -MONDO:0001956 capillary leak syndrome Orphanet:188 MONDO:equivalentTo Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary hyperpermeability syndrome -MONDO:0001956 capillary leak syndrome Orphanet:188 MONDO:equivalentTo Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary leak syndrome -MONDO:0001956 capillary leak syndrome Orphanet:188 MONDO:equivalentTo Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clarkson disease -MONDO:0001956 capillary leak syndrome Orphanet:188 MONDO:equivalentTo Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic capillary leak syndrome -MONDO:0001956 capillary leak syndrome Orphanet:188 MONDO:equivalentTo Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label systemic capillary leak syndrome -MONDO:0001956 capillary leak syndrome Orphanet:188 MONDO:equivalentTo Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary leak syndrome -MONDO:0002013 lymphangioma Orphanet:2415 MONDO:equivalentTo Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphangioma -MONDO:0002013 lymphangioma Orphanet:2415 MONDO:equivalentTo Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangioma -MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conjunctival melanoma -MONDO:0002096 malignant conjunctival melanoma Orphanet:617910 MONDO:equivalentTo Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label conjunctival malignant melanoma -MONDO:0002145 disorder of sexual differentiation Orphanet:90771 MONDO:equivalentTo Difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of sex development -MONDO:0002158 fallopian tube cancer Orphanet:180242 MONDO:equivalentTo Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cancer of fallopian tubes -MONDO:0002158 fallopian tube cancer Orphanet:180242 MONDO:equivalentTo Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant tubal tumor -MONDO:0002158 fallopian tube cancer Orphanet:180242 MONDO:equivalentTo Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubal cancer -MONDO:0002158 fallopian tube cancer Orphanet:180242 MONDO:equivalentTo Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant tumor of fallopian tubes -MONDO:0002262 capillary lymphangioma Orphanet:79490 MONDO:equivalentTo Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary lymphangioma -MONDO:0002262 capillary lymphangioma Orphanet:79490 MONDO:equivalentTo Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary lymphangioma -MONDO:0002335 chronic inflammatory demyelinating polyneuritis Orphanet:2932 MONDO:equivalentTo Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic inflammatory demyelinating polyneuropathy -MONDO:0002350 familial nephrotic syndrome Orphanet:564127 MONDO:equivalentTo Genetic nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary nephrotic syndrome -MONDO:0002412 disorder of glycogen metabolism Orphanet:79201 MONDO:equivalentTo Glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis -MONDO:0002412 disorder of glycogen metabolism Orphanet:79201 MONDO:equivalentTo Glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6p deficiency -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to g6p deficiency -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 1 -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type i -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 1 -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type i -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to g6p deficiency -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 1 -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type i -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von gierke disease -MONDO:0002413 glycogen storage disease I Orphanet:364 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease due to glucose-6-phosphatase deficiency -MONDO:0002546 schwannoma Orphanet:252164 MONDO:equivalentTo Benign schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurilemmoma -MONDO:0002546 schwannoma Orphanet:252164 MONDO:equivalentTo Benign schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral fibroblastoma -MONDO:0002546 schwannoma Orphanet:252164 MONDO:equivalentTo Benign schwannoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign schwannoma -MONDO:0002561 lysosomal storage disease Orphanet:68366 MONDO:equivalentTo Lysosomal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lysosomal disease -MONDO:0002648 mammary Paget disease Orphanet:180275 MONDO:equivalentTo Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disease -MONDO:0002648 mammary Paget disease Orphanet:180275 MONDO:equivalentTo Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disease of the breast -MONDO:0002648 mammary Paget disease Orphanet:180275 MONDO:equivalentTo Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mammary paget disease -MONDO:0002653 Paget disease of the penis Orphanet:398053 MONDO:equivalentTo Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile adenocarcinoma -MONDO:0002675 neurofibrosarcoma Orphanet:3148 MONDO:equivalentTo Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibrosarcoma -MONDO:0002684 atypical choroid plexus papilloma Orphanet:251902 MONDO:equivalentTo Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical choroid plexus papilloma -MONDO:0002684 atypical choroid plexus papilloma Orphanet:251902 MONDO:equivalentTo Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical cpp -MONDO:0002684 atypical choroid plexus papilloma Orphanet:251902 MONDO:equivalentTo Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical papilloma of choroid plexus -MONDO:0002684 atypical choroid plexus papilloma Orphanet:251902 MONDO:equivalentTo Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical choroid plexus papilloma -MONDO:0002718 central nervous system teratoma Orphanet:252018 MONDO:equivalentTo Teratoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label teratoma of the central nervous system -MONDO:0002735 anal canal adenocarcinoma Orphanet:424016 MONDO:equivalentTo Adenocarcinoma of the anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the anal canal -MONDO:0002752 ovarian adenocarcinoma Orphanet:213504 MONDO:equivalentTo Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian adenocarcinoma -MONDO:0002752 ovarian adenocarcinoma Orphanet:213504 MONDO:equivalentTo Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of ovary -MONDO:0002752 ovarian adenocarcinoma Orphanet:213504 MONDO:equivalentTo Adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian adenocarcinoma -MONDO:0002832 endometrial transitional cell carcinoma Orphanet:213746 MONDO:equivalentTo Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma -MONDO:0002832 endometrial transitional cell carcinoma Orphanet:213746 MONDO:equivalentTo Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial transitional cell carcinoma -MONDO:0002876 cervical adenosarcoma Orphanet:213792 MONDO:equivalentTo Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical adenosarcoma -MONDO:0002876 cervical adenosarcoma Orphanet:213792 MONDO:equivalentTo Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosarcoma of the cervix uteri -MONDO:0002876 cervical adenosarcoma Orphanet:213792 MONDO:equivalentTo Adenosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenosarcoma -MONDO:0002877 cervical carcinosarcoma Orphanet:213787 MONDO:equivalentTo Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical carcinosarcoma -MONDO:0002877 cervical carcinosarcoma Orphanet:213787 MONDO:equivalentTo Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical malignant müllerian mixed tumor -MONDO:0002877 cervical carcinosarcoma Orphanet:213787 MONDO:equivalentTo Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant müllerian mixed tumor of the cervix uteri -MONDO:0002877 cervical carcinosarcoma Orphanet:213787 MONDO:equivalentTo Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinosarcoma of the cervix uteri -MONDO:0002877 cervical carcinosarcoma Orphanet:213787 MONDO:equivalentTo Carcinosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical carcinosarcoma -MONDO:0002878 uterine corpus adenosarcoma Orphanet:213600 MONDO:equivalentTo Adenosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosarcoma of the corpus uteri -MONDO:0002882 colon neuroendocrine neoplasm Orphanet:100080 MONDO:equivalentTo Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine neoplasm of the colon -MONDO:0002955 vulva basal cell carcinoma Orphanet:494451 MONDO:equivalentTo Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell carcinoma of vulva -MONDO:0002955 vulva basal cell carcinoma Orphanet:494451 MONDO:equivalentTo Vulvar basal cell carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vulvar basal cell carcinoma -MONDO:0002999 central nervous system germinoma Orphanet:91352 MONDO:equivalentTo Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germinoma of the central nervous system -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell adenocarcinoma -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell carcinoma -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell renal cell adenocarcinoma -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular clear cell renal cell carcinoma -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular cystic renal cell adenocarcinoma -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular cystic renal cell carcinoma -MONDO:0003010 multilocular clear cell renal cell carcinoma Orphanet:319287 MONDO:equivalentTo Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multilocular clear cell renal cell carcinoma -MONDO:0003011 mucinous tubular and spindle renal cell carcinoma Orphanet:319322 MONDO:equivalentTo Mucinous tubular and spindle cell renal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucinous tubular and spindle cell renal carcinoma -MONDO:0003059 bile duct cancer Orphanet:70567 MONDO:equivalentTo Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bile duct cancer -MONDO:0003059 bile duct cancer Orphanet:70567 MONDO:equivalentTo Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer -MONDO:0003111 gastric neuroendocrine neoplasm Orphanet:100075 MONDO:equivalentTo Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of stomach -MONDO:0003125 testicular sex cord-stromal neoplasm Orphanet:363489 MONDO:equivalentTo Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular sex cord-stromal tumor -MONDO:0003125 testicular sex cord-stromal neoplasm Orphanet:363489 MONDO:equivalentTo Sex cord-stromal tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sex cord-stromal tumor of testis -MONDO:0003144 medulloepithelioma Orphanet:251883 MONDO:equivalentTo Medulloepithelioma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medulloepithelioma of the central nervous system -MONDO:0003198 small intestine adenocarcinoma Orphanet:104075 MONDO:equivalentTo Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of the small bowel -MONDO:0003198 small intestine adenocarcinoma Orphanet:104075 MONDO:equivalentTo Adenocarcinoma of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the small intestine -MONDO:0003345 hilar cholangiocarcinoma Orphanet:99978 MONDO:equivalentTo Klatskin tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hilar cca -MONDO:0003345 hilar cholangiocarcinoma Orphanet:99978 MONDO:equivalentTo Klatskin tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hilar cholangiocarcinoma -MONDO:0003345 hilar cholangiocarcinoma Orphanet:99978 MONDO:equivalentTo Klatskin tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label klatskin tumor -MONDO:0003345 hilar cholangiocarcinoma Orphanet:99978 MONDO:equivalentTo Klatskin tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hilar cholangiocarcinoma -MONDO:0003360 small intestine leiomyosarcoma Orphanet:104076 MONDO:equivalentTo Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leiomyosarcoma of small intestine -MONDO:0003414 skin pilomatrix carcinoma Orphanet:499182 MONDO:equivalentTo Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calcified epithelial carcinoma of malherbe -MONDO:0003414 skin pilomatrix carcinoma Orphanet:499182 MONDO:equivalentTo Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calcifying epitheliocarcinoma -MONDO:0003414 skin pilomatrix carcinoma Orphanet:499182 MONDO:equivalentTo Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant pilomatricoma -MONDO:0003414 skin pilomatrix carcinoma Orphanet:499182 MONDO:equivalentTo Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichomatrical carcinoma -MONDO:0003414 skin pilomatrix carcinoma Orphanet:499182 MONDO:equivalentTo Pilomatrix carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pilomatrix carcinoma -MONDO:0003429 functioning pituitary gland adenoma Orphanet:314753 MONDO:equivalentTo Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocrine active pituitary adenoma -MONDO:0003429 functioning pituitary gland adenoma Orphanet:314753 MONDO:equivalentTo Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym secreting pituitary adenoma -MONDO:0003429 functioning pituitary gland adenoma Orphanet:314753 MONDO:equivalentTo Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label functioning pituitary adenoma -MONDO:0003523 gastrin-producing neuroendocrine tumor Orphanet:913 MONDO:equivalentTo Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrinoma -MONDO:0003538 precursor lymphoblastic lymphoma/leukemia Orphanet:513 MONDO:equivalentTo Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym precursor lymphoid neoplasm -MONDO:0003630 pancreatic serous cystadenocarcinoma Orphanet:424073 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic serous cystadenocarcinoma -MONDO:0003630 pancreatic serous cystadenocarcinoma Orphanet:424073 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous cystadenocarcinoma of pancreas -MONDO:0003630 pancreatic serous cystadenocarcinoma Orphanet:424073 MONDO:equivalentTo Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic serous cystadenocarcinoma -MONDO:0003646 rectum neuroendocrine neoplasm Orphanet:100081 MONDO:equivalentTo Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the rectum -MONDO:0003646 rectum neuroendocrine neoplasm Orphanet:100081 MONDO:equivalentTo Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal net -MONDO:0003649 esophageal neuroendocrine tumor Orphanet:506136 MONDO:equivalentTo Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal nen -MONDO:0003649 esophageal neuroendocrine tumor Orphanet:506136 MONDO:equivalentTo Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal neuroendocrine neoplasm -MONDO:0003649 esophageal neuroendocrine tumor Orphanet:506136 MONDO:equivalentTo Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nen of esophagus -MONDO:0003649 esophageal neuroendocrine tumor Orphanet:506136 MONDO:equivalentTo Neuroendocrine neoplasm of esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine neoplasm of esophagus -MONDO:0003669 testicular seminoma Orphanet:842 MONDO:equivalentTo Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminoma of testis -MONDO:0003669 testicular seminoma Orphanet:842 MONDO:equivalentTo Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminomatous germ cell tumor of testis -MONDO:0003669 testicular seminoma Orphanet:842 MONDO:equivalentTo Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular seminoma -MONDO:0003669 testicular seminoma Orphanet:842 MONDO:equivalentTo Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label testicular seminomatous germ cell tumor -MONDO:0003669 testicular seminoma Orphanet:842 MONDO:equivalentTo Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular seminoma -MONDO:0003761 leptomeningeal melanoma Orphanet:252050 MONDO:equivalentTo Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant melanoma of meninges -MONDO:0003792 ovarian carcinosarcoma Orphanet:213512 MONDO:equivalentTo Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmmt of the ovary -MONDO:0003792 ovarian carcinosarcoma Orphanet:213512 MONDO:equivalentTo Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian carcinosarcoma -MONDO:0003792 ovarian carcinosarcoma Orphanet:213512 MONDO:equivalentTo Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant mixed epithelial mesenchymal tumor -MONDO:0003792 ovarian carcinosarcoma Orphanet:213512 MONDO:equivalentTo Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant mixed müllerian tumor -MONDO:0003792 ovarian carcinosarcoma Orphanet:213512 MONDO:equivalentTo Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian carcinosarcoma -MONDO:0003795 ovarian small cell carcinoma Orphanet:370396 MONDO:equivalentTo Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell ovarian carcinoma -MONDO:0003795 ovarian small cell carcinoma Orphanet:370396 MONDO:equivalentTo Small cell carcinoma of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label small cell carcinoma of the ovary -MONDO:0003832 complement deficiency Orphanet:459345 MONDO:equivalentTo Immunodeficiency due to a complement cascade component deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency due to a complement cascade component deficiency -MONDO:0003878 malignant choroid melanoma Orphanet:39044 MONDO:equivalentTo Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal melanoma -MONDO:0003964 myositis ossificans Orphanet:337 MONDO:equivalentTo Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myositis ossificans progressiva -MONDO:0004035 glomangiomatosis Orphanet:83454 MONDO:equivalentTo Glomuvenous malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomangiomatosis -MONDO:0004058 pancreatic cholera Orphanet:97282 MONDO:equivalentTo VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome -MONDO:0004058 pancreatic cholera Orphanet:97282 MONDO:equivalentTo VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera -MONDO:0004064 iris melanoma Orphanet:39044 MONDO:equivalentTo Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris melanoma -MONDO:0004064 iris melanoma Orphanet:39044 MONDO:equivalentTo Uveal melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris melanoma -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma Orphanet:284400 MONDO:equivalentTo Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly differentiated neuroendocrine carcinoma of the bladder -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma Orphanet:284400 MONDO:equivalentTo Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell bladder cancer -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma Orphanet:284400 MONDO:equivalentTo Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell bladder carcinoma -MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma Orphanet:284400 MONDO:equivalentTo Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small cell carcinoma of the urinary bladder -MONDO:0004132 anal canal squamous cell carcinoma Orphanet:424019 MONDO:equivalentTo Squamous cell carcinoma of the anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the anal canal -MONDO:0004156 pancreatic mucinous cystadenocarcinoma Orphanet:424053 MONDO:equivalentTo Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma -MONDO:0004156 pancreatic mucinous cystadenocarcinoma Orphanet:424053 MONDO:equivalentTo Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma -MONDO:0004233 childhood pleomorphic rhabdomyosarcoma Orphanet:293199 MONDO:equivalentTo Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleomorphic rhabdomyosarcoma -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells Orphanet:512017 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic lymphoproliferative disorder of nk-cells -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells Orphanet:512017 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nk lymphocytosis -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells Orphanet:512017 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic nk-cell lymphocytosis -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells Orphanet:512017 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clpd-nk -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells Orphanet:512017 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nk-cell lineage granular lymphocyte proliferative disorder -MONDO:0004234 chronic lymphoproliferative disorder of NK-cells Orphanet:512017 MONDO:equivalentTo Chronic lymphoproliferative disorder of natural killer cells semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic lymphoproliferative disorder of nk-cells -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma Orphanet:424058 MONDO:equivalentTo Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic intraductal papillary mucinous carcinoma -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma Orphanet:424058 MONDO:equivalentTo Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intraductal papillary mucinous carcinoma of pancreas -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning pancreatic net -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning pancreatic neuroendocrine tumor -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning pnet -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated nen of pancreas -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated neuroendocrine neoplasm of pancreas -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated pancreatic nen -MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet:506075 MONDO:equivalentTo Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-functioning well-differentiated pancreatic neuroendocrine neoplasm -MONDO:0004351 intraocular lymphoma Orphanet:279904 MONDO:equivalentTo Primary intraocular lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary intraocular lymphoma -MONDO:0004527 congenital granular cell tumor Orphanet:157826 MONDO:equivalentTo Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor -MONDO:0004527 congenital granular cell tumor Orphanet:157826 MONDO:equivalentTo Congenital epulis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital granular cell tumor -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance Orphanet:98845 MONDO:equivalentTo Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic hodgkin lymphoma, lymphocyte-rich type -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion Orphanet:98846 MONDO:equivalentTo Classic Hodgkin lymphoma, lymphocyte-depleted type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic hodgkin lymphoma, lymphocyte-depleted type -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity Orphanet:98844 MONDO:equivalentTo Classic Hodgkin lymphoma, mixed cellularity type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic hodgkin lymphoma, mixed cellularity type -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative Orphanet:98824 MONDO:equivalentTo Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute myeloid leukemia -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative Orphanet:98824 MONDO:equivalentTo Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical chronic myeloid leukemia -MONDO:0004684 plantar fibromatosis Orphanet:199251 MONDO:equivalentTo Ledderhose disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plantar fibromatosis -MONDO:0004684 plantar fibromatosis Orphanet:199251 MONDO:equivalentTo Ledderhose disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plantar fibromatosis -MONDO:0004772 glaucomatocyclitic crisis Orphanet:636950 MONDO:equivalentTo Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym posner-schlossman syndrome -MONDO:0004772 glaucomatocyclitic crisis Orphanet:636950 MONDO:equivalentTo Glaucomatocyclitic crisis disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glaucomatocyclitic crisis disease -MONDO:0004773 iridocyclitis Orphanet:280886 MONDO:equivalentTo Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis -MONDO:0004773 iridocyclitis Orphanet:280886 MONDO:equivalentTo Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis -MONDO:0004775 lens-induced iridocyclitis Orphanet:209959 MONDO:equivalentTo Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis -MONDO:0004775 lens-induced iridocyclitis Orphanet:209959 MONDO:equivalentTo Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lens-induced iridocyclitis -MONDO:0004806 chronic eosinophilic pneumonia Orphanet:2902 MONDO:equivalentTo Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic eosinophilic pneumonia -MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm Orphanet:293208 MONDO:equivalentTo Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median arcuate ligament syndrome -MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm Orphanet:293208 MONDO:equivalentTo Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome -MONDO:0004927 dacryocystocele Orphanet:141083 MONDO:equivalentTo Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dacryocystocele -MONDO:0004952 Hodgkins lymphoma Orphanet:98293 MONDO:equivalentTo Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hodgkin lymphoma -MONDO:0004958 oral cavity squamous cell carcinoma Orphanet:502363 MONDO:equivalentTo Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the oral cavity -MONDO:0004959 plasma cell neoplasm Orphanet:98282 MONDO:equivalentTo Plasma cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label plasma cell tumor -MONDO:0004963 T-cell acute lymphoblastic leukemia Orphanet:99861 MONDO:equivalentTo Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-all -MONDO:0005028 esophageal adenocarcinoma Orphanet:99976 MONDO:equivalentTo Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal adenocarcinoma -MONDO:0005028 esophageal adenocarcinoma Orphanet:99976 MONDO:equivalentTo Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the esophagus -MONDO:0005028 esophageal adenocarcinoma Orphanet:99976 MONDO:equivalentTo Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym esophageal adenocarcinoma -MONDO:0005055 Kaposi's sarcoma Orphanet:33276 MONDO:equivalentTo Kaposi sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kaposi sarcoma -MONDO:0005077 pertussis Orphanet:1489 MONDO:equivalentTo Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pertussis -MONDO:0005077 pertussis Orphanet:1489 MONDO:equivalentTo Whooping cough semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label whooping cough -MONDO:0005077 pertussis Orphanet:1489 MONDO:equivalentTo Whooping cough semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pertussis -MONDO:0005153 cervical adenocarcinoma Orphanet:213772 MONDO:equivalentTo Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical adenocarcinoma -MONDO:0005153 cervical adenocarcinoma Orphanet:213772 MONDO:equivalentTo Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the cervix uteri -MONDO:0005153 cervical adenocarcinoma Orphanet:213772 MONDO:equivalentTo Adenocarcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenocarcinoma -MONDO:0005185 chronic childhood arthritis Orphanet:92 MONDO:equivalentTo Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid arthritis -MONDO:0005197 thymus neoplasm Orphanet:100100 MONDO:equivalentTo Thymic tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thymic tumor -MONDO:0005210 uterine corpus sarcoma Orphanet:213620 MONDO:equivalentTo Sarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sarcoma of the corpus uteri -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia Orphanet:98826 MONDO:equivalentTo Refractory anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia -MONDO:0005321 Fuchs' endothelial dystrophy Orphanet:98974 MONDO:equivalentTo Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endoepithelial corneal dystrophy -MONDO:0005321 Fuchs' endothelial dystrophy Orphanet:98974 MONDO:equivalentTo Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym late hereditary endothelial dystrophy -MONDO:0005361 eosinophilic esophagitis Orphanet:370334 MONDO:equivalentTo Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eoe -MONDO:0005459 human African trypanosomiasis Orphanet:3385 MONDO:equivalentTo African trypanosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sleeping sickness -MONDO:0005459 human African trypanosomiasis Orphanet:3385 MONDO:equivalentTo African trypanosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label african trypanosomiasis -MONDO:0005486 tooth agenesis Orphanet:99798 MONDO:equivalentTo Oligodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym selective tooth agenesis -MONDO:0005486 tooth agenesis Orphanet:99798 MONDO:equivalentTo Oligodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oligodontia -MONDO:0005501 congenital disorder of glycosylation type II Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0005501 congenital disorder of glycosylation type II Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0005502 dengue disease Orphanet:99828 MONDO:equivalentTo Dengue fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dengue virus infection -MONDO:0005502 dengue disease Orphanet:99828 MONDO:equivalentTo Dengue fever semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dengue fever -MONDO:0005508 hereditary multiple osteochondromas Orphanet:321 MONDO:equivalentTo Multiple osteochondromas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bessel-hagen disease -MONDO:0005508 hereditary multiple osteochondromas Orphanet:321 MONDO:equivalentTo Multiple osteochondromas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple cartilaginous exostoses -MONDO:0005514 nanophthalmia Orphanet:35612 MONDO:equivalentTo Nanophthalmos semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nanophthalmia -MONDO:0005570 hematologic disorder Orphanet:97992 MONDO:equivalentTo Rare hematologic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare hematologic disease -MONDO:0005580 esophageal squamous cell carcinoma Orphanet:99977 MONDO:equivalentTo Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal epidermoid carcinoma -MONDO:0005580 esophageal squamous cell carcinoma Orphanet:99977 MONDO:equivalentTo Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym esophageal squamous cell carcinoma -MONDO:0005580 esophageal squamous cell carcinoma Orphanet:99977 MONDO:equivalentTo Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the esophagus -MONDO:0005580 esophageal squamous cell carcinoma Orphanet:99977 MONDO:equivalentTo Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym esophageal squamous cell carcinoma -MONDO:0005595 laryngeal squamous cell carcinoma Orphanet:494550 MONDO:equivalentTo Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the larynx -MONDO:0005601 ovarian mucinous adenocarcinoma Orphanet:398961 MONDO:equivalentTo Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian mucinous adenocarcinoma -MONDO:0005601 ovarian mucinous adenocarcinoma Orphanet:398961 MONDO:equivalentTo Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucinous adenocarcinoma of ovary -MONDO:0005601 ovarian mucinous adenocarcinoma Orphanet:398961 MONDO:equivalentTo Mucinous adenocarcinoma of ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian mucinous adenocarcinoma -MONDO:0005619 typhoid fever Orphanet:99745 MONDO:equivalentTo Typhoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym typhoid fever -MONDO:0005619 typhoid fever Orphanet:99745 MONDO:equivalentTo Typhoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym typhoidal salmonellosis -MONDO:0005619 typhoid fever Orphanet:99745 MONDO:equivalentTo Typhoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label typhoid -MONDO:0005619 typhoid fever Orphanet:99745 MONDO:equivalentTo Typhoid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym typhoid fever -MONDO:0005645 ancylostomiasis Orphanet:78 MONDO:equivalentTo Ankylostomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ancylostomiasis -MONDO:0005668 bird fancier's lung Orphanet:99908 MONDO:equivalentTo Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bird fancier lung -MONDO:0005668 bird fancier's lung Orphanet:99908 MONDO:equivalentTo Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigeon-breeder lung disease -MONDO:0005674 bone giant cell tumor Orphanet:363976 MONDO:equivalentTo Giant cell tumor of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gct of bone -MONDO:0005674 bone giant cell tumor Orphanet:363976 MONDO:equivalentTo Giant cell tumor of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell tumor of bone -MONDO:0005769 geniculate herpes zoster Orphanet:3020 MONDO:equivalentTo Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial nerve palsy due to herpes zoster infection -MONDO:0005769 geniculate herpes zoster Orphanet:3020 MONDO:equivalentTo Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial nerve palsy due to vzv -MONDO:0005769 geniculate herpes zoster Orphanet:3020 MONDO:equivalentTo Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial nerve paralysis due to vzv -MONDO:0005769 geniculate herpes zoster Orphanet:3020 MONDO:equivalentTo Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ramsay hunt syndrome -MONDO:0005789 hepatitis D virus infection Orphanet:402823 MONDO:equivalentTo Hepatitis delta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatitis d virus -MONDO:0005789 hepatitis D virus infection Orphanet:402823 MONDO:equivalentTo Hepatitis delta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hepatitis delta -MONDO:0005815 pancreatic neuroendocrine neoplasm Orphanet:506052 MONDO:equivalentTo Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic nen -MONDO:0005815 pancreatic neuroendocrine neoplasm Orphanet:506052 MONDO:equivalentTo Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic neuroendocrine neoplasm -MONDO:0005815 pancreatic neuroendocrine neoplasm Orphanet:506052 MONDO:equivalentTo Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic neuroendocrine neoplasm -MONDO:0005817 Kluver-Bucy syndrome Orphanet:157823 MONDO:equivalentTo Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label klüver-bucy syndrome -MONDO:0005823 legionellosis Orphanet:549 MONDO:equivalentTo Legionnaires disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionnaires disease -MONDO:0005827 lipoatrophic diabetes Orphanet:528 MONDO:equivalentTo Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005827 lipoatrophic diabetes Orphanet:528 MONDO:equivalentTo Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005893 pancreatic endocrine carcinoma Orphanet:506098 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic nec -MONDO:0005893 pancreatic endocrine carcinoma Orphanet:506098 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic neuroendocrine carcinoma -MONDO:0005893 pancreatic endocrine carcinoma Orphanet:506098 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated nen of pancreas -MONDO:0005893 pancreatic endocrine carcinoma Orphanet:506098 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated neuroendocrine neoplasm of pancreas -MONDO:0005893 pancreatic endocrine carcinoma Orphanet:506098 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated pancreatic nen -MONDO:0005893 pancreatic endocrine carcinoma Orphanet:506098 MONDO:equivalentTo Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poorly-differentiated pancreatic neuroendocrine neoplasm -MONDO:0006002 urogenital tuberculosis Orphanet:645874 MONDO:equivalentTo Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urogenital tuberculosis -MONDO:0006043 metaplastic breast carcinoma Orphanet:213531 MONDO:equivalentTo Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metaplastic carcinoma of the breast -MONDO:0006045 ovarian clear cell adenocarcinoma Orphanet:398971 MONDO:equivalentTo Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian clear cell adenocarcinoma -MONDO:0006045 ovarian clear cell adenocarcinoma Orphanet:398971 MONDO:equivalentTo Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian clear cell adenocarcinoma -MONDO:0006058 Wilms tumor Orphanet:654 MONDO:equivalentTo Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wilms tumor -MONDO:0006058 Wilms tumor Orphanet:654 MONDO:equivalentTo Nephroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wilms tumor -MONDO:0006097 atypical lipomatous tumor Orphanet:99971 MONDO:equivalentTo Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lipoma -MONDO:0006097 atypical lipomatous tumor Orphanet:99971 MONDO:equivalentTo Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical lipomatous tumor -MONDO:0006132 cervical adenoid basal carcinoma Orphanet:213828 MONDO:equivalentTo Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid basal carcinoma -MONDO:0006133 cervical adenoid cystic carcinoma Orphanet:213823 MONDO:equivalentTo Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical adenoid cystic carcinoma -MONDO:0006133 cervical adenoid cystic carcinoma Orphanet:213823 MONDO:equivalentTo Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenoid cystic carcinoma of the cervix uteri -MONDO:0006133 cervical adenoid cystic carcinoma Orphanet:213823 MONDO:equivalentTo Adenoid cystic carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid cystic carcinoma -MONDO:0006143 cervical squamous cell carcinoma Orphanet:213767 MONDO:equivalentTo Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical squamous cell carcinoma -MONDO:0006143 cervical squamous cell carcinoma Orphanet:213767 MONDO:equivalentTo Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the cervix uteri -MONDO:0006143 cervical squamous cell carcinoma Orphanet:213767 MONDO:equivalentTo Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical squamous cell carcinoma -MONDO:0006198 endometrial squamous cell carcinoma Orphanet:213716 MONDO:equivalentTo Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma -MONDO:0006198 endometrial squamous cell carcinoma Orphanet:213716 MONDO:equivalentTo Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial squamous cell carcinoma -MONDO:0006199 endometrial undifferentiated carcinoma Orphanet:213721 MONDO:equivalentTo Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma -MONDO:0006199 endometrial undifferentiated carcinoma Orphanet:213721 MONDO:equivalentTo Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial undifferentiated carcinoma -MONDO:0006230 gastric squamous cell carcinoma Orphanet:418959 MONDO:equivalentTo Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric squamous cell carcinoma -MONDO:0006230 gastric squamous cell carcinoma Orphanet:418959 MONDO:equivalentTo Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the stomach -MONDO:0006230 gastric squamous cell carcinoma Orphanet:418959 MONDO:equivalentTo Squamous cell carcinoma of the stomach semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gastric squamous cell carcinoma -MONDO:0006237 granulocytic sarcoma Orphanet:86850 MONDO:equivalentTo Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma -MONDO:0006237 granulocytic sarcoma Orphanet:86850 MONDO:equivalentTo Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma -MONDO:0006260 kidney medullary carcinoma Orphanet:319319 MONDO:equivalentTo Renal medullary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal medullary carcinoma -MONDO:0006329 olfactory neuroblastoma Orphanet:1957 MONDO:equivalentTo Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olfactory neuroblastoma -MONDO:0006329 olfactory neuroblastoma Orphanet:1957 MONDO:equivalentTo Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olfactory neuroblastoma -MONDO:0006335 ovarian endometrioid adenocarcinoma Orphanet:454723 MONDO:equivalentTo Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endometrioid carcinoma of ovary -MONDO:0006339 ovarian microcystic stromal tumor Orphanet:569248 MONDO:equivalentTo Microcystic stromal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcystic stromal tumor -MONDO:0006346 pancreatic acinar cell carcinoma Orphanet:424046 MONDO:equivalentTo Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic acinar cell carcinoma -MONDO:0006346 pancreatic acinar cell carcinoma Orphanet:424046 MONDO:equivalentTo Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acinar cell carcinoma of pancreas -MONDO:0006346 pancreatic acinar cell carcinoma Orphanet:424046 MONDO:equivalentTo Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic acinar cell carcinoma -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation Orphanet:595133 MONDO:equivalentTo Perivascular epithelioid cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pecoma -MONDO:0006363 peritoneal multicystic mesothelioma Orphanet:168816 MONDO:equivalentTo Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicystic mesothelioma -MONDO:0006363 peritoneal multicystic mesothelioma Orphanet:168816 MONDO:equivalentTo Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multilocular peritoneal inclusion cyst -MONDO:0006363 peritoneal multicystic mesothelioma Orphanet:168816 MONDO:equivalentTo Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peritoneal cystic mesothelioma -MONDO:0006373 pituitary gland adenoma Orphanet:99408 MONDO:equivalentTo Pituitary adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pituitary adenoma -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy Orphanet:158014 MONDO:equivalentTo Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym destombes-rosaï-dorfman disease -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy Orphanet:158014 MONDO:equivalentTo Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosaï-dorfman-destombes disease -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy Orphanet:158014 MONDO:equivalentTo Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy Orphanet:158014 MONDO:equivalentTo Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sinus histiocytosis with massive lymphadenopathy -MONDO:0006447 testicular non-seminomatous germ cell tumor Orphanet:363494 MONDO:equivalentTo Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-dysgerminomatous germ cell tumor of testis -MONDO:0006447 testicular non-seminomatous germ cell tumor Orphanet:363494 MONDO:equivalentTo Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular non seminomatous germ cell tumor -MONDO:0006447 testicular non-seminomatous germ cell tumor Orphanet:363494 MONDO:equivalentTo Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular non-dysgerminomatous germ cell tumor -MONDO:0006447 testicular non-seminomatous germ cell tumor Orphanet:363494 MONDO:equivalentTo Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-seminomatous germ cell tumor of testis -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma Orphanet:142 MONDO:equivalentTo Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anaplastic thyroid carcinoma -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells Orphanet:424080 MONDO:equivalentTo Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ogct of pancreas -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells Orphanet:424080 MONDO:equivalentTo Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoclastic giant cell tumor of pancreas -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells Orphanet:424080 MONDO:equivalentTo Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic osteoclastic giant cell tumor -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells Orphanet:424080 MONDO:equivalentTo Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic undifferentiated carcinoma with osteoclast-like giant cells -MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells Orphanet:424080 MONDO:equivalentTo Undifferentiated carcinoma with osteoclast-like giant cells of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated carcinoma of pancreas with osteoclast-like giant cells -MONDO:0006485 uterine carcinosarcoma Orphanet:213610 MONDO:equivalentTo Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine carcinosarcoma -MONDO:0006485 uterine carcinosarcoma Orphanet:213610 MONDO:equivalentTo Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uterine carcinosarcoma -MONDO:0006543 epidermolysis bullosa dystrophica Orphanet:303 MONDO:equivalentTo Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dermolytic epidermolysis bullosa -MONDO:0006543 epidermolysis bullosa dystrophica Orphanet:303 MONDO:equivalentTo Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica -MONDO:0006543 epidermolysis bullosa dystrophica Orphanet:303 MONDO:equivalentTo Dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermolysis bullosa dystrophica -MONDO:0006574 lipomatosis Orphanet:2398 MONDO:equivalentTo Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym madelung disease -MONDO:0006606 scleredema adultorum Orphanet:352763 MONDO:equivalentTo Scleredema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buschke scleredema -MONDO:0006606 scleredema adultorum Orphanet:352763 MONDO:equivalentTo Scleredema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scleredema -MONDO:0006639 adrenal cortex carcinoma Orphanet:1501 MONDO:equivalentTo Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenocortical carcinoma -MONDO:0006663 perinatal asphyxia Orphanet:137577 MONDO:equivalentTo Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hie -MONDO:0006663 perinatal asphyxia Orphanet:137577 MONDO:equivalentTo Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxic-ischemic encephalopathy -MONDO:0006663 perinatal asphyxia Orphanet:137577 MONDO:equivalentTo Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perinatal hypoxia -MONDO:0006664 atrial septal defect Orphanet:1478 MONDO:equivalentTo Interatrial communication semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrial septal defect -MONDO:0006664 atrial septal defect Orphanet:1478 MONDO:equivalentTo Interatrial communication semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interauricular communication -MONDO:0006664 atrial septal defect Orphanet:1478 MONDO:equivalentTo Interatrial communication semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrial septal defect -MONDO:0006669 bacterial endocarditis Orphanet:570762 MONDO:equivalentTo Infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis -MONDO:0006669 bacterial endocarditis Orphanet:570762 MONDO:equivalentTo Infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis -MONDO:0006682 brachial plexus neuritis Orphanet:2901 MONDO:equivalentTo Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brachial plexus neuritis -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy Orphanet:2932 MONDO:equivalentTo Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic inflammatory demyelinating polyradiculoneuropathy -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy Orphanet:2932 MONDO:equivalentTo Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic inflammatory demyelinating polyradiculoneuropathy -MONDO:0006745 endometrioid stromal sarcoma Orphanet:213711 MONDO:equivalentTo Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stromal sarcoma of the corpus uteri -MONDO:0006745 endometrioid stromal sarcoma Orphanet:213711 MONDO:equivalentTo Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endometrial stromal sarcoma -MONDO:0006866 neonatal myasthenia gravis Orphanet:391504 MONDO:equivalentTo Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal myasthenia gravis -MONDO:0006866 neonatal myasthenia gravis Orphanet:391504 MONDO:equivalentTo Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal myasthenia gravis -MONDO:0006956 Rickettsiosis Orphanet:102021 MONDO:equivalentTo Rickettsial disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rickettsiae disease -MONDO:0006956 Rickettsiosis Orphanet:102021 MONDO:equivalentTo Rickettsial disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rickettsial disease -MONDO:0007023 Yersinia infectious disease Orphanet:707 MONDO:equivalentTo Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis -MONDO:0007029 branchio-oto-renal syndrome Orphanet:107 MONDO:equivalentTo BOR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal syndrome -MONDO:0007029 branchio-oto-renal syndrome Orphanet:107 MONDO:equivalentTo BOR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome -MONDO:0007047 punctate palmoplantar keratoderma type III Orphanet:38 MONDO:equivalentTo Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ake -MONDO:0007047 punctate palmoplantar keratoderma type III Orphanet:38 MONDO:equivalentTo Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym punctate palmoplantar hyperkeratosis type 3 -MONDO:0007047 punctate palmoplantar keratoderma type III Orphanet:38 MONDO:equivalentTo Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym punctate palmoplantar keratoderma type 3 -MONDO:0007047 punctate palmoplantar keratoderma type III Orphanet:38 MONDO:equivalentTo Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrokeratoelastoidosis of costa -MONDO:0007048 acrokeratosis verruciformis Orphanet:79151 MONDO:equivalentTo Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym akv of hopf -MONDO:0007048 acrokeratosis verruciformis Orphanet:79151 MONDO:equivalentTo Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrokeratosis verruciformis of hopf -MONDO:0007057 Acroosteolysis dominant type Orphanet:955 MONDO:equivalentTo Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acroosteolysis with osteoporosis and changes in skull and mandible -MONDO:0007057 Acroosteolysis dominant type Orphanet:955 MONDO:equivalentTo Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrodentoosteodysplasia -MONDO:0007057 Acroosteolysis dominant type Orphanet:955 MONDO:equivalentTo Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cheney syndrome -MONDO:0007057 Acroosteolysis dominant type Orphanet:955 MONDO:equivalentTo Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hajdu-cheney syndrome -MONDO:0007057 Acroosteolysis dominant type Orphanet:955 MONDO:equivalentTo Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acroosteolysis dominant type -MONDO:0007062 adactylia, unilateral Orphanet:973 MONDO:equivalentTo Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adactyly of hand, unilateral -MONDO:0007062 adactylia, unilateral Orphanet:973 MONDO:equivalentTo Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digits 2-5 hypodactyly, unilateral -MONDO:0007062 adactylia, unilateral Orphanet:973 MONDO:equivalentTo Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digits 2-5 oligodactyly, unilateral -MONDO:0007062 adactylia, unilateral Orphanet:973 MONDO:equivalentTo Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital absence/hypoplasia of fingers excluding thumb, unilateral -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency Orphanet:277 MONDO:equivalentTo Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ada deficiency -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency Orphanet:277 MONDO:equivalentTo Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to adenosine deaminase deficiency -MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet:403 MONDO:equivalentTo Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dexamethasone-sensitive hypertension -MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet:403 MONDO:equivalentTo Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hyperaldosteronism type 1 -MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet:403 MONDO:equivalentTo Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fh-i -MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet:403 MONDO:equivalentTo Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocorticoid-remediable aldosteronism -MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet:403 MONDO:equivalentTo Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocorticoid-sensitive hypertension -MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet:403 MONDO:equivalentTo Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glucocorticoid-remediable aldosteronism -MONDO:0007095 ameloonychohypohidrotic syndrome Orphanet:1028 MONDO:equivalentTo Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ameloonychohypohidrotic syndrome -MONDO:0007095 ameloonychohypohidrotic syndrome Orphanet:1028 MONDO:equivalentTo Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ameloonychohypohidrotic syndrome -MONDO:0007097 Finnish type amyloidosis Orphanet:85448 MONDO:equivalentTo AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid polyneuropathy type iv -MONDO:0007097 Finnish type amyloidosis Orphanet:85448 MONDO:equivalentTo AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloidosis, finnish type -MONDO:0007097 Finnish type amyloidosis Orphanet:85448 MONDO:equivalentTo AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gelsolin amyloidosis -MONDO:0007097 Finnish type amyloidosis Orphanet:85448 MONDO:equivalentTo AGel amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloidosis, finnish type -MONDO:0007098 ACys amyloidosis Orphanet:85458 MONDO:equivalentTo Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis -MONDO:0007099 familial visceral amyloidosis Orphanet:85450 MONDO:equivalentTo Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis, ostertag type -MONDO:0007099 familial visceral amyloidosis Orphanet:85450 MONDO:equivalentTo Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid nephropathy -MONDO:0007099 familial visceral amyloidosis Orphanet:85450 MONDO:equivalentTo Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial renal amyloidosis -MONDO:0007099 familial visceral amyloidosis Orphanet:85450 MONDO:equivalentTo Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy -MONDO:0007099 familial visceral amyloidosis Orphanet:85450 MONDO:equivalentTo Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal amyloidosis -MONDO:0007100 familial amyloid neuropathy Orphanet:85447 MONDO:equivalentTo ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attrv30m-related amyloidosis -MONDO:0007100 familial amyloid neuropathy Orphanet:85447 MONDO:equivalentTo ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid polyneuropathy type i -MONDO:0007100 familial amyloid neuropathy Orphanet:85447 MONDO:equivalentTo ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid polyneuropathy, portuguese-swedish-japanese type -MONDO:0007100 familial amyloid neuropathy Orphanet:85447 MONDO:equivalentTo ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transthyretin amyloid neuropathy -MONDO:0007100 familial amyloid neuropathy Orphanet:85447 MONDO:equivalentTo ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transthyretin amyloid polyneuropathy -MONDO:0007100 familial amyloid neuropathy Orphanet:85447 MONDO:equivalentTo ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ttr amyloid neuropathy -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex Orphanet:90020 MONDO:equivalentTo Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disease -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex Orphanet:90020 MONDO:equivalentTo Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disease -MONDO:0007108 anal canal carcinoma Orphanet:424013 MONDO:equivalentTo Carcinoma of the anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carcinoma of the anal canal -MONDO:0007109 congenital dyserythropoietic anemia type 3 Orphanet:98870 MONDO:equivalentTo Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda iii -MONDO:0007109 congenital dyserythropoietic anemia type 3 Orphanet:98870 MONDO:equivalentTo Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 3 -MONDO:0007109 congenital dyserythropoietic anemia type 3 Orphanet:98870 MONDO:equivalentTo Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type iii -MONDO:0007109 congenital dyserythropoietic anemia type 3 Orphanet:98870 MONDO:equivalentTo Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 3 -MONDO:0007109 congenital dyserythropoietic anemia type 3 Orphanet:98870 MONDO:equivalentTo Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 3 -MONDO:0007154 arteriovenous malformations of the brain Orphanet:46724 MONDO:equivalentTo Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intracranial arteriovenous malformation -MONDO:0007154 arteriovenous malformations of the brain Orphanet:46724 MONDO:equivalentTo Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral arteriovenous malformation -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 MONDO:equivalentTo Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 5 -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 MONDO:equivalentTo Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iib -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 MONDO:equivalentTo Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis with ophthalmoplegia -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Orphanet:1154 MONDO:equivalentTo Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculomelic amyoplasia -MONDO:0007163 episodic ataxia type 2 Orphanet:97 MONDO:equivalentTo Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym episodic ataxia type 2 -MONDO:0007163 episodic ataxia type 2 Orphanet:97 MONDO:equivalentTo Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic ataxia type 2 -MONDO:0007165 spastic ataxia 7 Orphanet:1182 MONDO:equivalentTo Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant spastic ataxia type 7 -MONDO:0007173 atrial septal defect 7 Orphanet:1479 MONDO:equivalentTo Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrial septal defect-atrioventricular conduction defects syndrome -MONDO:0007182 Machado-Joseph disease Orphanet:98757 MONDO:equivalentTo Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym azorean disease of the nervous system -MONDO:0007182 Machado-Joseph disease Orphanet:98757 MONDO:equivalentTo Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym machado disease -MONDO:0007182 Machado-Joseph disease Orphanet:98757 MONDO:equivalentTo Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym machado-joseph disease -MONDO:0007182 Machado-Joseph disease Orphanet:98757 MONDO:equivalentTo Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nigro-spino-dentatal degeneration with nuclear ophthalmoplegia -MONDO:0007182 Machado-Joseph disease Orphanet:98757 MONDO:equivalentTo Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 3 -MONDO:0007182 Machado-Joseph disease Orphanet:98757 MONDO:equivalentTo Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym machado-joseph disease -MONDO:0007187 nevoid basal cell carcinoma syndrome Orphanet:377 MONDO:equivalentTo Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym basal cell nevus syndrome -MONDO:0007187 nevoid basal cell carcinoma syndrome Orphanet:377 MONDO:equivalentTo Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gorlin-goltz syndrome -MONDO:0007187 nevoid basal cell carcinoma syndrome Orphanet:377 MONDO:equivalentTo Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nevoid basal cell carcinoma syndrome -MONDO:0007187 nevoid basal cell carcinoma syndrome Orphanet:377 MONDO:equivalentTo Gorlin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gorlin syndrome -MONDO:0007187 nevoid basal cell carcinoma syndrome Orphanet:377 MONDO:equivalentTo Gorlin syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nevoid basal cell carcinoma syndrome -MONDO:0007191 Behcet disease Orphanet:117 MONDO:equivalentTo Behçet disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label behçet disease -MONDO:0007219 Osebold-Remondini syndrome Orphanet:93382 MONDO:equivalentTo Brachydactyly type A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osebold-remondini syndrome -MONDO:0007219 Osebold-Remondini syndrome Orphanet:93382 MONDO:equivalentTo Brachydactyly type A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brachydactyly type a6 -MONDO:0007219 Osebold-Remondini syndrome Orphanet:93382 MONDO:equivalentTo Brachydactyly type A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osebold-remondini syndrome -MONDO:0007239 epidermolytic ichthyosis Orphanet:312 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bullous congenital ichthyosiform erythroderma -MONDO:0007239 epidermolytic ichthyosis Orphanet:312 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bullous congenital ichthyosiform erythroderma of brock -MONDO:0007239 epidermolytic ichthyosis Orphanet:312 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bullous ichthyosis -MONDO:0007239 epidermolytic ichthyosis Orphanet:312 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolytic hyperkeratosis -MONDO:0007239 epidermolytic ichthyosis Orphanet:312 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis hystrix brocq type -MONDO:0007245 cafe au lait spots, multiple Orphanet:2678 MONDO:equivalentTo Familial isolated café-au-lait macules semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis type 6 -MONDO:0007269 dilated cardiomyopathy 1A Orphanet:300751 MONDO:equivalentTo Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dilated cardiomyopathy with conduction defect due to lmna mutation -MONDO:0007293 leukocyte adhesion deficiency 1 Orphanet:99842 MONDO:equivalentTo Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad-i -MONDO:0007293 leukocyte adhesion deficiency 1 Orphanet:99842 MONDO:equivalentTo Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type i -MONDO:0007294 central core myopathy Orphanet:597 MONDO:equivalentTo Central core disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central core disease -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bects -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial epilepsy of childhood with rolandic spikes -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign rolandic epilepsy -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bre -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym centrotemporal epilepsy -MONDO:0007295 childhood epilepsy with centrotemporal spikes Orphanet:1945 MONDO:equivalentTo Rolandic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rolandic epilepsy -MONDO:0007316 Chiari malformation type I Orphanet:268882 MONDO:equivalentTo Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arnold-chiari malformation type 1 -MONDO:0007316 Chiari malformation type I Orphanet:268882 MONDO:equivalentTo Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chiari malformation type 1 -MONDO:0007316 Chiari malformation type I Orphanet:268882 MONDO:equivalentTo Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chiari malformation type i -MONDO:0007316 Chiari malformation type I Orphanet:268882 MONDO:equivalentTo Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label arnold-chiari malformation type i -MONDO:0007316 Chiari malformation type I Orphanet:268882 MONDO:equivalentTo Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chiari malformation type i -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate crystal deposition disease -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial articular chondrocalcinosis -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cc -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cppd -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary articular chondrocalcinosis -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary calcium pyrophosphate deposition -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cc -MONDO:0007319 chondrocalcinosis 2 Orphanet:1416 MONDO:equivalentTo Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial calcium pyrophosphate deposition -MONDO:0007330 congenital pseudoarthrosis of clavicle Orphanet:66630 MONDO:equivalentTo Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital pseudarthrosis of the clavicle -MONDO:0007338 cleft soft palate Orphanet:99772 MONDO:equivalentTo Cleft velum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleft soft palate -MONDO:0007338 cleft soft palate Orphanet:99772 MONDO:equivalentTo Cleft velum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleft velum palatinum -MONDO:0007338 cleft soft palate Orphanet:99772 MONDO:equivalentTo Cleft velum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cleft velum -MONDO:0007338 cleft soft palate Orphanet:99772 MONDO:equivalentTo Cleft velum semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft soft palate -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bcd syndrome -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clefting-ectropion-conical teeth syndrome -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectropion inferior-cleft lip and/or palate syndrome -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lagophthalmia-cleft lip and palate syndrome -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blepharo-cheilo-odontic syndrome -MONDO:0007339 blepharocheilodontic syndrome Orphanet:1997 MONDO:equivalentTo Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007340 cleidocranial dysplasia 1 Orphanet:1452 MONDO:equivalentTo Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleidocranial dysostosis -MONDO:0007340 cleidocranial dysplasia 1 Orphanet:1452 MONDO:equivalentTo Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cleidocranial dysplasia -MONDO:0007354 coloboma of optic nerve Orphanet:98947 MONDO:equivalentTo Coloboma of optic disc semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coloboma of optic papilla -MONDO:0007378 posterior polymorphous corneal dystrophy 1 Orphanet:293603 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 Orphanet:98975 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 -MONDO:0007383 Stern-Lubinsky-Durrie syndrome Orphanet:3194 MONDO:equivalentTo Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stern-lubinsky-durrie syndrome -MONDO:0007404 Cri-du-chat syndrome Orphanet:281 MONDO:equivalentTo Monosomy 5p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cri du chat syndrome -MONDO:0007404 Cri-du-chat syndrome Orphanet:281 MONDO:equivalentTo Monosomy 5p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 5p -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome Orphanet:1555 MONDO:equivalentTo Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beare-stevenson cutis gyrata syndrome -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome Orphanet:1555 MONDO:equivalentTo Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym beare-stevenson cutis gyrata syndrome -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome Orphanet:79499 MONDO:equivalentTo Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ddod syndrome -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome Orphanet:79499 MONDO:equivalentTo Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant deafness-onychodystrophy syndrome -MONDO:0007435 dentatorubral-pallidoluysian atrophy Orphanet:101 MONDO:equivalentTo Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentatorubropallidoluysian atrophy -MONDO:0007435 dentatorubral-pallidoluysian atrophy Orphanet:101 MONDO:equivalentTo Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naito-oyanagi disease -MONDO:0007450 neurohypophyseal diabetes insipidus Orphanet:30925 MONDO:equivalentTo Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cdi -MONDO:0007450 neurohypophyseal diabetes insipidus Orphanet:30925 MONDO:equivalentTo Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary neurogenic diabetes insipidus -MONDO:0007471 Doyne honeycomb retinal dystrophy Orphanet:75376 MONDO:equivalentTo Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dominant drusen -MONDO:0007471 Doyne honeycomb retinal dystrophy Orphanet:75376 MONDO:equivalentTo Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dominant radial drusen -MONDO:0007471 Doyne honeycomb retinal dystrophy Orphanet:75376 MONDO:equivalentTo Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym doyne honeycomb retinal dystrophy -MONDO:0007471 Doyne honeycomb retinal dystrophy Orphanet:75376 MONDO:equivalentTo Familial drusen semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malattia leventinese -MONDO:0007471 Doyne honeycomb retinal dystrophy Orphanet:75376 MONDO:equivalentTo Familial drusen semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym doyne honeycomb retinal dystrophy -MONDO:0007477 3-M syndrome Orphanet:2616 MONDO:equivalentTo 3M syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-m syndrome -MONDO:0007477 3-M syndrome Orphanet:2616 MONDO:equivalentTo 3M syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0007477 3-M syndrome Orphanet:2616 MONDO:equivalentTo 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 3-m syndrome -MONDO:0007481 Leri-Weill dyschondrosteosis Orphanet:240 MONDO:equivalentTo Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym léri-weill syndrome -MONDO:0007481 Leri-Weill dyschondrosteosis Orphanet:240 MONDO:equivalentTo Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label léri-weill dyschondrosteosis -MONDO:0007493 torsion dystonia 4 Orphanet:98805 MONDO:equivalentTo Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary whispering dysphonia -MONDO:0007495 dystonia 5 Orphanet:98808 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant segawa syndrome -MONDO:0007495 dystonia 5 Orphanet:98808 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5a -MONDO:0007495 dystonia 5 Orphanet:98808 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gtpch1-deficient dopa-responsive dystonia -MONDO:0007495 dystonia 5 Orphanet:98808 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gtpch1-deficient drd -MONDO:0007495 dystonia 5 Orphanet:98808 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary progressive dystonia with marked diurnal fluctuation -MONDO:0007495 dystonia 5 Orphanet:98808 MONDO:equivalentTo Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hpd with marked diurnal fluctuation -MONDO:0007496 dystonia 12 Orphanet:71517 MONDO:equivalentTo Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 12 -MONDO:0007496 dystonia 12 Orphanet:71517 MONDO:equivalentTo Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 12 -MONDO:0007510 Clouston syndrome Orphanet:189 MONDO:equivalentTo Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clouston syndrome -MONDO:0007510 Clouston syndrome Orphanet:189 MONDO:equivalentTo Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hidrotic ectodermal dysplasia -MONDO:0007510 Clouston syndrome Orphanet:189 MONDO:equivalentTo Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym clouston syndrome -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type Orphanet:285 MONDO:equivalentTo Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds iii -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type Orphanet:285 MONDO:equivalentTo Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 3 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type Orphanet:1899 MONDO:equivalentTo Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds vii -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type Orphanet:1899 MONDO:equivalentTo Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 7 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type Orphanet:1899 MONDO:equivalentTo Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type Orphanet:75392 MONDO:equivalentTo Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds viii -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type Orphanet:75392 MONDO:equivalentTo Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 8 -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type Orphanet:75392 MONDO:equivalentTo Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type Orphanet:75392 MONDO:equivalentTo Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type -MONDO:0007548 transient bullous dermolysis of the newborn Orphanet:79411 MONDO:equivalentTo Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transient bullous dermolysis of the newborn -MONDO:0007548 transient bullous dermolysis of the newborn Orphanet:79411 MONDO:equivalentTo Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transient bullous dermolysis of the newborn -MONDO:0007551 epidermolysis bullosa simplex 1C, localized Orphanet:79400 MONDO:equivalentTo Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-loc -MONDO:0007551 epidermolysis bullosa simplex 1C, localized Orphanet:79400 MONDO:equivalentTo Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex of palms and soles -MONDO:0007551 epidermolysis bullosa simplex 1C, localized Orphanet:79400 MONDO:equivalentTo Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex, weber-cockayne type -MONDO:0007551 epidermolysis bullosa simplex 1C, localized Orphanet:79400 MONDO:equivalentTo Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label localized epidermolysis bullosa simplex -MONDO:0007552 pretibial dystrophic epidermolysis bullosa Orphanet:79410 MONDO:equivalentTo Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deb-pt -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate Orphanet:79399 MONDO:equivalentTo Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex, koebner type -MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate Orphanet:79399 MONDO:equivalentTo Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa simplex, köbner type -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation Orphanet:79397 MONDO:equivalentTo Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-mp -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation Orphanet:79397 MONDO:equivalentTo Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex with mottled pigmentation -MONDO:0007571 primary erythermalgia Orphanet:90026 MONDO:equivalentTo Primary erythromelalgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary erythromelalgia -MONDO:0007571 primary erythermalgia Orphanet:90026 MONDO:equivalentTo Primary erythromelalgia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary erythermalgia -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation Orphanet:90042 MONDO:equivalentTo Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital erythrocytosis due to erythropoietin receptor mutation -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation Orphanet:90042 MONDO:equivalentTo Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital polycythemia due to erythropoietin receptor mutation -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation Orphanet:90042 MONDO:equivalentTo Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial erythrocytosis -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation Orphanet:90042 MONDO:equivalentTo Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital erythrocytosis -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation Orphanet:90042 MONDO:equivalentTo Primary familial polycythemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial and congenital polycythemia -MONDO:0007590 hemifacial hypertrophy Orphanet:141145 MONDO:equivalentTo Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemifacial hypertrophy -MONDO:0007590 hemifacial hypertrophy Orphanet:141145 MONDO:equivalentTo Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemifacial hypertrophy -MONDO:0007607 Birt-Hogg-Dube syndrome Orphanet:122 MONDO:equivalentTo Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrofolliculomas with trichodiscomas and acrochordons -MONDO:0007620 fish eye disease Orphanet:79292 MONDO:equivalentTo Fish-eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fed -MONDO:0007620 fish eye disease Orphanet:79292 MONDO:equivalentTo Fish-eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial lcat deficiency -MONDO:0007646 Gamstorp-Wohlfart syndrome Orphanet:324442 MONDO:equivalentTo Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aran-nm -MONDO:0007646 Gamstorp-Wohlfart syndrome Orphanet:324442 MONDO:equivalentTo Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arcmt2-nm -MONDO:0007646 Gamstorp-Wohlfart syndrome Orphanet:324442 MONDO:equivalentTo Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia -MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet:26106 MONDO:equivalentTo Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial diffuse cancer of stomach -MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet:26106 MONDO:equivalentTo Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial diffuse gastric cancer -MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet:26106 MONDO:equivalentTo Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary diffuse cancer of stomach -MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet:26106 MONDO:equivalentTo Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary diffuse gastric adenocarcinoma -MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet:26106 MONDO:equivalentTo Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer -MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet:26106 MONDO:equivalentTo Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary diffuse gastric adenocarcinoma -MONDO:0007652 gastric mucosal hypertrophy Orphanet:2494 MONDO:equivalentTo Ménétrier disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym giant hypertrophic gastritis -MONDO:0007652 gastric mucosal hypertrophy Orphanet:2494 MONDO:equivalentTo Ménétrier disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoproteinemic hypertrophic gastropathy -MONDO:0007652 gastric mucosal hypertrophy Orphanet:2494 MONDO:equivalentTo Ménétrier disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ménétrier disease -MONDO:0007669 renal cysts and diabetes syndrome Orphanet:93111 MONDO:equivalentTo HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hnf1b-mody -MONDO:0007669 renal cysts and diabetes syndrome Orphanet:93111 MONDO:equivalentTo HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rcad syndrome -MONDO:0007669 renal cysts and diabetes syndrome Orphanet:93111 MONDO:equivalentTo HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cysts and diabetes syndrome -MONDO:0007669 renal cysts and diabetes syndrome Orphanet:93111 MONDO:equivalentTo HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal dysfunction-early-onset diabetes syndrome -MONDO:0007669 renal cysts and diabetes syndrome Orphanet:93111 MONDO:equivalentTo HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal cysts and diabetes syndrome -MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Orphanet:276399 MONDO:equivalentTo Familial multinodular goiter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial mng -MONDO:0007693 hypertrichosis cubiti-short stature syndrome Orphanet:2220 MONDO:equivalentTo Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hairy elbows syndrome -MONDO:0007693 hypertrichosis cubiti-short stature syndrome Orphanet:2220 MONDO:equivalentTo Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macdermot-patton-williams syndrome -MONDO:0007710 facial hemiatrophy Orphanet:1214 MONDO:equivalentTo Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemifacial atrophy -MONDO:0007710 facial hemiatrophy Orphanet:1214 MONDO:equivalentTo Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parry-romberg syndrome -MONDO:0007710 facial hemiatrophy Orphanet:1214 MONDO:equivalentTo Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive facial hemiatrophy -MONDO:0007710 facial hemiatrophy Orphanet:1214 MONDO:equivalentTo Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romberg syndrome -MONDO:0007710 facial hemiatrophy Orphanet:1214 MONDO:equivalentTo Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive hemifacial atrophy -MONDO:0007713 clonic hemifacial spasm Orphanet:221083 MONDO:equivalentTo Hemifacial spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facial hemispasm -MONDO:0007713 clonic hemifacial spasm Orphanet:221083 MONDO:equivalentTo Hemifacial spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym focal myoclonus of face -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 Orphanet:98791 MONDO:equivalentTo Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha thalassemia-intellectual disability syndrome, deletion type -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 Orphanet:98791 MONDO:equivalentTo Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr syndrome linked to chromosome 16 -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 Orphanet:98791 MONDO:equivalentTo Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr syndrome, deletion type -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 Orphanet:98791 MONDO:equivalentTo Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr-16 syndrome -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 Orphanet:98791 MONDO:equivalentTo Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 -MONDO:0007727 autosomal dominant familial periodic fever Orphanet:32960 MONDO:equivalentTo Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hibernian fever -MONDO:0007727 autosomal dominant familial periodic fever Orphanet:32960 MONDO:equivalentTo Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tnf receptor 1-associated periodic syndrome -MONDO:0007727 autosomal dominant familial periodic fever Orphanet:32960 MONDO:equivalentTo Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym traps syndrome -MONDO:0007727 autosomal dominant familial periodic fever Orphanet:32960 MONDO:equivalentTo Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tumor necrosis factor receptor 1 associated periodic syndrome -MONDO:0007737 humeroradial synostosis Orphanet:3265 MONDO:equivalentTo Humero-radial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym humero-radial fusion -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations Orphanet:263463 MONDO:equivalentTo CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia with congenital joint dislocations, chst3 type -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations Orphanet:263463 MONDO:equivalentTo CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sdcd, chst3 type -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations Orphanet:263463 MONDO:equivalentTo CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations Orphanet:263463 MONDO:equivalentTo CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chst3-related skeletal dysplasia -MONDO:0007762 hyperlipoproteinemia type V Orphanet:530849 MONDO:equivalentTo Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency -MONDO:0007762 hyperlipoproteinemia type V Orphanet:530849 MONDO:equivalentTo Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency -MONDO:0007762 hyperlipoproteinemia type V Orphanet:530849 MONDO:equivalentTo Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency -MONDO:0007764 autosomal dominant osteosclerosis, Worth type Orphanet:2790 MONDO:equivalentTo Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym worth syndrome -MONDO:0007764 autosomal dominant osteosclerosis, Worth type Orphanet:2790 MONDO:equivalentTo Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosteal hyperostosis, worth type -MONDO:0007764 autosomal dominant osteosclerosis, Worth type Orphanet:2790 MONDO:equivalentTo Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant osteosclerosis, worth type -MONDO:0007768 hyperparathyroidism 2 with jaw tumors Orphanet:99880 MONDO:equivalentTo Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hpt-jt -MONDO:0007768 hyperparathyroidism 2 with jaw tumors Orphanet:99880 MONDO:equivalentTo Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperparathyroidism-jaw tumor syndrome -MONDO:0007787 Ambras type hypertrichosis universalis congenita Orphanet:1023 MONDO:equivalentTo Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ambras syndrome -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease type 3 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type iii -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn 3 -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn iii -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dejerine-sottas syndrome -MONDO:0007790 Charcot-Marie-Tooth disease type 3 Orphanet:64748 MONDO:equivalentTo Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disease type 3 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 Orphanet:93372 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhh type 1 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 Orphanet:93372 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypocalciuric hypercalcemia type 1 -MONDO:0007792 familial hypocalciuric hypercalcemia 2 Orphanet:101049 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhh type 2 -MONDO:0007792 familial hypocalciuric hypercalcemia 2 Orphanet:101049 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypocalciuric hypercalcemia type 2 -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome Orphanet:2237 MONDO:equivalentTo Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barakat syndrome -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome Orphanet:2237 MONDO:equivalentTo Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hdr syndrome -MONDO:0007800 chromosome 18p deletion syndrome Orphanet:1598 MONDO:equivalentTo Monosomy 18p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de grouchy syndrome -MONDO:0007800 chromosome 18p deletion syndrome Orphanet:1598 MONDO:equivalentTo Monosomy 18p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy 18p -MONDO:0007800 chromosome 18p deletion syndrome Orphanet:261974 MONDO:equivalentTo Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 18p -MONDO:0007800 chromosome 18p deletion syndrome Orphanet:261974 MONDO:equivalentTo Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 18p -MONDO:0007800 chromosome 18p deletion syndrome Orphanet:261974 MONDO:equivalentTo Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 18 -MONDO:0007800 chromosome 18p deletion syndrome Orphanet:261974 MONDO:equivalentTo Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 18 -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad-hies -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant hies -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant hyperimmunoglobulin e syndrome -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buckley syndrome -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperimmunoglobulin e syndrome type 1 -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stat3 deficiency -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant Orphanet:2314 MONDO:equivalentTo Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant hyper-ige syndrome -MONDO:0007842 joint laxity, familial Orphanet:2295 MONDO:equivalentTo Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial joint instability syndrome -MONDO:0007842 joint laxity, familial Orphanet:2295 MONDO:equivalentTo Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial joint laxity -MONDO:0007842 joint laxity, familial Orphanet:2295 MONDO:equivalentTo Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint instability syndrome +MONDO:0005342 IgA glomerulonephritis Orphanet:34145 MONDO:equivalentTo Immunoglobulin A nephropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iga nephropathy MONDO:0007849 keratitis fugax hereditaria Orphanet:647815 MONDO:equivalentTo Keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratoendotheliitis fugax hereditaria -MONDO:0007864 angioosteohypertrophic syndrome Orphanet:90308 MONDO:equivalentTo Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label klippel-trénaunay syndrome -MONDO:0007866 Bart-Pumphrey syndrome Orphanet:2698 MONDO:equivalentTo Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bart-pumphrey syndrome -MONDO:0007866 Bart-Pumphrey syndrome Orphanet:2698 MONDO:equivalentTo Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome -MONDO:0007866 Bart-Pumphrey syndrome Orphanet:2698 MONDO:equivalentTo Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bart-pumphrey syndrome -MONDO:0007872 LADD syndrome Orphanet:2363 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculoradiodental syndrome -MONDO:0007872 LADD syndrome Orphanet:2363 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ladd syndrome -MONDO:0007872 LADD syndrome Orphanet:2363 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lard syndrome -MONDO:0007872 LADD syndrome Orphanet:2363 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym levy-hollister syndrome -MONDO:0007872 LADD syndrome Orphanet:2363 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lacrimoauriculodentodigital syndrome -MONDO:0007872 LADD syndrome Orphanet:2363 MONDO:equivalentTo Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ladd syndrome -MONDO:0007874 trichorhinophalangeal syndrome type II Orphanet:502 MONDO:equivalentTo Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym langer-giedion syndrome -MONDO:0007874 trichorhinophalangeal syndrome type II Orphanet:502 MONDO:equivalentTo Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichorhinophalangeal syndrome type 2 -MONDO:0007885 Legg-Calve-Perthes disease Orphanet:2380 MONDO:equivalentTo Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aseptic necrosis of the capital femoral epiphysis -MONDO:0007885 Legg-Calve-Perthes disease Orphanet:2380 MONDO:equivalentTo Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondrosis of the capital femoral epiphysis -MONDO:0007885 Legg-Calve-Perthes disease Orphanet:2380 MONDO:equivalentTo Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perthes disease -MONDO:0007896 acute monocytic leukemia Orphanet:514 MONDO:equivalentTo Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m5 -MONDO:0007919 lymphatic malformation 1 Orphanet:79452 MONDO:equivalentTo Milroy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i -MONDO:0007919 lymphatic malformation 1 Orphanet:79452 MONDO:equivalentTo Milroy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema -MONDO:0007919 lymphatic malformation 1 Orphanet:79452 MONDO:equivalentTo Milroy disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label milroy disease -MONDO:0007920 lymphatic malformation 5 Orphanet:90186 MONDO:equivalentTo Meige disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type ii -MONDO:0007920 lymphatic malformation 5 Orphanet:90186 MONDO:equivalentTo Meige disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meige lymphedema -MONDO:0007920 lymphatic malformation 5 Orphanet:90186 MONDO:equivalentTo Meige disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meige disease -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) Orphanet:86841 MONDO:equivalentTo Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 5q- syndrome -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) Orphanet:86841 MONDO:equivalentTo Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality -MONDO:0007931 vitelliform macular dystrophy 2 Orphanet:1243 MONDO:equivalentTo Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym best disease -MONDO:0007931 vitelliform macular dystrophy 2 Orphanet:1243 MONDO:equivalentTo Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym best macular dystrophy -MONDO:0007931 vitelliform macular dystrophy 2 Orphanet:1243 MONDO:equivalentTo Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early-onset vitelliform macular dystrophy -MONDO:0007931 vitelliform macular dystrophy 2 Orphanet:1243 MONDO:equivalentTo Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile-onset vitelliform macular dystrophy -MONDO:0007931 vitelliform macular dystrophy 2 Orphanet:1243 MONDO:equivalentTo Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymorphic vitelline macular degeneration -MONDO:0007931 vitelliform macular dystrophy 2 Orphanet:1243 MONDO:equivalentTo Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitelliform macular dystrophy type 2 -MONDO:0007935 cystoid macular edema Orphanet:75381 MONDO:equivalentTo Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant cystoid macular edema -MONDO:0007935 cystoid macular edema Orphanet:75381 MONDO:equivalentTo Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial macular edema -MONDO:0007937 renal hypomagnesemia 2 Orphanet:34528 MONDO:equivalentTo Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated autosomal dominant hypomagnesemia -MONDO:0007937 renal hypomagnesemia 2 Orphanet:34528 MONDO:equivalentTo Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated renal magnesium wasting -MONDO:0007937 renal hypomagnesemia 2 Orphanet:34528 MONDO:equivalentTo Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal hypomagnesemia type 2 -MONDO:0007943 Nager acrofacial dysostosis Orphanet:245 MONDO:equivalentTo Nager syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mandibulofacial dysostosis with preaxial limb anomalies -MONDO:0007943 Nager acrofacial dysostosis Orphanet:245 MONDO:equivalentTo Nager syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nager acrofacial dysostosis -MONDO:0007943 Nager acrofacial dysostosis Orphanet:245 MONDO:equivalentTo Nager syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym preaxial acrodysostosis -MONDO:0007943 Nager acrofacial dysostosis Orphanet:245 MONDO:equivalentTo Nager syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nager acrofacial dysostosis -MONDO:0007946 jaw-winking syndrome Orphanet:91412 MONDO:equivalentTo Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jaw-winking syndrome -MONDO:0007946 jaw-winking syndrome Orphanet:91412 MONDO:equivalentTo Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mandibulo-palpebral synkinesis-ptosis syndrome -MONDO:0007946 jaw-winking syndrome Orphanet:91412 MONDO:equivalentTo Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marcus-gunn phenomenon -MONDO:0007946 jaw-winking syndrome Orphanet:91412 MONDO:equivalentTo Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marcus-gunn syndrome -MONDO:0007946 jaw-winking syndrome Orphanet:91412 MONDO:equivalentTo Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jaw-winking syndrome -MONDO:0007947 Marfan syndrome Orphanet:284963 MONDO:equivalentTo Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfan syndrome type 1 -MONDO:0007953 Binder syndrome Orphanet:1248 MONDO:equivalentTo Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym binder syndrome -MONDO:0007953 Binder syndrome Orphanet:1248 MONDO:equivalentTo Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maxillonasal dysostosis -MONDO:0007953 Binder syndrome Orphanet:1248 MONDO:equivalentTo Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym binder syndrome -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 Orphanet:404560 MONDO:equivalentTo Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0008006 Mobius syndrome Orphanet:570 MONDO:equivalentTo Moebius syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym möbius syndrome -MONDO:0008007 tooth ankylosis Orphanet:1077 MONDO:equivalentTo Dental ankylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ankylosis of teeth -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261112 MONDO:equivalentTo Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9p deletion syndrome -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261112 MONDO:equivalentTo Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9p- syndrome -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261112 MONDO:equivalentTo Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alfi syndrome -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261112 MONDO:equivalentTo Monosomy 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy 9p -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261929 MONDO:equivalentTo Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 9p -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261929 MONDO:equivalentTo Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 9p -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261929 MONDO:equivalentTo Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 9 -MONDO:0008013 chromosome 9p deletion syndrome Orphanet:261929 MONDO:equivalentTo Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 9 -MONDO:0008019 mullerian aplasia and hyperandrogenism Orphanet:247768 MONDO:equivalentTo Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym müllerian duct failure and hyperandrogenism -MONDO:0008019 mullerian aplasia and hyperandrogenism Orphanet:247768 MONDO:equivalentTo Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wnt4 deficiency -MONDO:0008044 myoclonic dystonia 11 Orphanet:36899 MONDO:equivalentTo Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia -MONDO:0008050 MYH7-related skeletal myopathy Orphanet:59135 MONDO:equivalentTo Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 1 -MONDO:0008050 MYH7-related skeletal myopathy Orphanet:59135 MONDO:equivalentTo Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gowers disease -MONDO:0008050 MYH7-related skeletal myopathy Orphanet:59135 MONDO:equivalentTo Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laing early-onset distal myopathy -MONDO:0008056 myotonic dystrophy type 1 Orphanet:273 MONDO:equivalentTo Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy type 1 -MONDO:0008056 myotonic dystrophy type 1 Orphanet:273 MONDO:equivalentTo Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steinert disease -MONDO:0008056 myotonic dystrophy type 1 Orphanet:273 MONDO:equivalentTo Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy type 1 -MONDO:0008062 narcolepsy 1 Orphanet:2073 MONDO:equivalentTo Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 -MONDO:0008070 nemaline myopathy 3 Orphanet:98904 MONDO:equivalentTo Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym actin myopathy -MONDO:0008070 nemaline myopathy 3 Orphanet:98904 MONDO:equivalentTo Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital myopathy with excess of thin filaments -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 Orphanet:88950 MONDO:equivalentTo UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary cystic kidney disease type 2 -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 Orphanet:88950 MONDO:equivalentTo UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym umod-related adtkd -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 Orphanet:88950 MONDO:equivalentTo UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uromodulin-associated kidney disease -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 Orphanet:88950 MONDO:equivalentTo UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy type 1 -MONDO:0008075 schwannomatosis Orphanet:93921 MONDO:equivalentTo Full schwannomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurilemmomatosis -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) Orphanet:228343 MONDO:equivalentTo CLN4B disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln4b disease -MONDO:0008097 linear nevus sebaceous syndrome Orphanet:2612 MONDO:equivalentTo Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nevus sebaceus of jadassohn -MONDO:0008097 linear nevus sebaceous syndrome Orphanet:2612 MONDO:equivalentTo Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nevus sebaceus syndrome -MONDO:0008097 linear nevus sebaceous syndrome Orphanet:2612 MONDO:equivalentTo Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym organoid nevus syndrome -MONDO:0008097 linear nevus sebaceous syndrome Orphanet:2612 MONDO:equivalentTo Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schimmelpenning syndrome -MONDO:0008097 linear nevus sebaceous syndrome Orphanet:2612 MONDO:equivalentTo Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solomon syndrome -MONDO:0008098 mesomelic dwarfism, Nievergelt type Orphanet:2633 MONDO:equivalentTo Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nievergelt syndrome -MONDO:0008098 mesomelic dwarfism, Nievergelt type Orphanet:2633 MONDO:equivalentTo Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mesomelic dwarfism, nievergelt type -MONDO:0008133 optic atrophy 3 Orphanet:67036 MONDO:equivalentTo Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant optic atrophy type 3 -MONDO:0008133 optic atrophy 3 Orphanet:67036 MONDO:equivalentTo Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opa3, autosomal dominant -MONDO:0008137 orofaciodigital syndrome X Orphanet:2756 MONDO:equivalentTo Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym figuera syndrome -MONDO:0008137 orofaciodigital syndrome X Orphanet:2756 MONDO:equivalentTo Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 -MONDO:0008137 orofaciodigital syndrome X Orphanet:2756 MONDO:equivalentTo Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome with fibular aplasia -MONDO:0008137 orofaciodigital syndrome X Orphanet:2756 MONDO:equivalentTo Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 10 -MONDO:0008150 osteoglophonic dwarfism Orphanet:2645 MONDO:equivalentTo Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoglophonic dwarfism -MONDO:0008150 osteoglophonic dwarfism Orphanet:2645 MONDO:equivalentTo Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteoglophonic dwarfism -MONDO:0008156 autosomal dominant osteopetrosis 2 Orphanet:53 MONDO:equivalentTo Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteopetrosis autosomal dominant type 2 -MONDO:0008156 autosomal dominant osteopetrosis 2 Orphanet:53 MONDO:equivalentTo Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albers-schönberg osteopetrosis -MONDO:0008175 pacman dysplasia Orphanet:1952 MONDO:equivalentTo Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pacman dysplasia -MONDO:0008175 pacman dysplasia Orphanet:1952 MONDO:equivalentTo Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pacman dysplasia -MONDO:0008198 parietal foramina with cleidocranial dysplasia Orphanet:251290 MONDO:equivalentTo Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parietal foramina with cleidocranial dysplasia -MONDO:0008198 parietal foramina with cleidocranial dysplasia Orphanet:251290 MONDO:equivalentTo Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym parietal foramina with cleidocranial dysplasia -MONDO:0008199 late-onset Parkinson disease Orphanet:411602 MONDO:equivalentTo Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant late-onset parkinson disease -MONDO:0008199 late-onset Parkinson disease Orphanet:411602 MONDO:equivalentTo Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary late-onset parkinson disease -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy Orphanet:99027 MONDO:equivalentTo Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset autosomal dominant demyelinating leukodystrophy -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy Orphanet:99027 MONDO:equivalentTo Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset autosomal dominant leukodystrophy -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy Orphanet:99027 MONDO:equivalentTo Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult-onset autosomal dominant demyelinating leukodystrophy -MONDO:0008218 Hailey-Hailey disease Orphanet:2841 MONDO:equivalentTo Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign chronic familial pemphigus of hailey-hailey -MONDO:0008218 Hailey-Hailey disease Orphanet:2841 MONDO:equivalentTo Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hailey-hailey disease -MONDO:0008218 Hailey-Hailey disease Orphanet:2841 MONDO:equivalentTo Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hailey-hailey disease -MONDO:0008228 pernicious anemia Orphanet:332 MONDO:equivalentTo Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency -MONDO:0008260 Kindler syndrome Orphanet:2908 MONDO:equivalentTo Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kindler syndrome -MONDO:0008260 Kindler syndrome Orphanet:2908 MONDO:equivalentTo Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poikiloderma of kindler -MONDO:0008260 Kindler syndrome Orphanet:2908 MONDO:equivalentTo Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kindler syndrome -MONDO:0008267 orofaciodigital syndrome V Orphanet:2919 MONDO:equivalentTo Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 5 -MONDO:0008267 orofaciodigital syndrome V Orphanet:2919 MONDO:equivalentTo Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome, thurston type -MONDO:0008267 orofaciodigital syndrome V Orphanet:2919 MONDO:equivalentTo Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polydactyly postaxial with median cleft of upper lip -MONDO:0008267 orofaciodigital syndrome V Orphanet:2919 MONDO:equivalentTo Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thurston syndrome -MONDO:0008267 orofaciodigital syndrome V Orphanet:2919 MONDO:equivalentTo Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 5 -MONDO:0008269 polydactyly of a biphalangeal thumb Orphanet:93339 MONDO:equivalentTo Polydactyly of a biphalangeal thumb and/or hallux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym preaxial polydactyly type 1 -MONDO:0008272 polysyndactyly 4 Orphanet:93338 MONDO:equivalentTo Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym preaxial polydactyly type 4 -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies Orphanet:36383 MONDO:equivalentTo COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym col4a1-related brain small vessel disease with hemorrhage -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies Orphanet:36383 MONDO:equivalentTo COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym col4a1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies Orphanet:36383 MONDO:equivalentTo COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label col4a1-related familial vascular leukoencephalopathy -MONDO:0008297 variegate porphyria Orphanet:79473 MONDO:equivalentTo Porphyria variegata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym protoporphyrinogen oxidase deficiency -MONDO:0008297 variegate porphyria Orphanet:79473 MONDO:equivalentTo Porphyria variegata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym variegate porphyria -MONDO:0008297 variegate porphyria Orphanet:79473 MONDO:equivalentTo Porphyria variegata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym variegate porphyria -MONDO:0008303 familial male-limited precocious puberty Orphanet:3000 MONDO:equivalentTo Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial gonadotropin-independent male-limited sexual precocity -MONDO:0008303 familial male-limited precocious puberty Orphanet:3000 MONDO:equivalentTo Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male-limited precocious puberty -MONDO:0008303 familial male-limited precocious puberty Orphanet:3000 MONDO:equivalentTo Familial peripheral male-limited precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testotoxicosis -MONDO:0008305 Currarino triad Orphanet:1552 MONDO:equivalentTo Currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym currarino triad -MONDO:0008305 Currarino triad Orphanet:1552 MONDO:equivalentTo Currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label currarino syndrome -MONDO:0008305 Currarino triad Orphanet:1552 MONDO:equivalentTo Currarino syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym currarino triad -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 Orphanet:171871 MONDO:equivalentTo Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant pseudohypoaldosteronism type 1 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 Orphanet:171871 MONDO:equivalentTo Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant pseudohypoaldosteronism type 1 -MONDO:0008332 platelet-type von Willebrand disease Orphanet:52530 MONDO:equivalentTo Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet type-von willebrand disease -MONDO:0008332 platelet-type von Willebrand disease Orphanet:52530 MONDO:equivalentTo Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-von willebrand disease type 2b -MONDO:0008332 platelet-type von Willebrand disease Orphanet:52530 MONDO:equivalentTo Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pt-vwd -MONDO:0008332 platelet-type von Willebrand disease Orphanet:52530 MONDO:equivalentTo Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudo-von willebrand disease -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A Orphanet:65743 MONDO:equivalentTo Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 8 -MONDO:0008340 ptosis, hereditary congenital, 1 Orphanet:91411 MONDO:equivalentTo Congenital ptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ptosis -MONDO:0008346 pulmonary hemosiderosis Orphanet:99931 MONDO:equivalentTo Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic pulmonary hemosiderosis -MONDO:0008392 Roussy-Levy syndrome Orphanet:3115 MONDO:equivalentTo Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary areflexic dystasia, roussy-lévy type -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant Orphanet:431255 MONDO:equivalentTo Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurogenic scapuloperoneal amyotrophy, new england type -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant Orphanet:431255 MONDO:equivalentTo Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scapuloperoneal neuronopathy -MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant Orphanet:431255 MONDO:equivalentTo Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scapuloperoneal spinal muscular atrophy -MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant Orphanet:636965 MONDO:equivalentTo Autosomal dominant myosin storage myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant myosin storage myopathy -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome Orphanet:384 MONDO:equivalentTo Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar hyperkeratosis-sclerodactyly syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome Orphanet:384 MONDO:equivalentTo Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scleroatrophic syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome Orphanet:384 MONDO:equivalentTo Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sclerotylosis -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome Orphanet:384 MONDO:equivalentTo Huriez syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label huriez syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome Orphanet:384 MONDO:equivalentTo Huriez syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym palmoplantar keratoderma-sclerodactyly syndrome -MONDO:0008428 septooptic dysplasia Orphanet:3157 MONDO:equivalentTo Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de morsier syndrome -MONDO:0008428 septooptic dysplasia Orphanet:3157 MONDO:equivalentTo Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym septo-optic dysplasia -MONDO:0008433 small cell lung carcinoma Orphanet:70573 MONDO:equivalentTo Small cell lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label small cell lung cancer -MONDO:0008437 hereditary spastic paraplegia 3A Orphanet:100984 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym strümpell disease -MONDO:0008437 hereditary spastic paraplegia 3A Orphanet:100984 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 3 -MONDO:0008438 hereditary spastic paraplegia 4 Orphanet:100985 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 4 -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 Orphanet:139518 MONDO:equivalentTo Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant distal juvenile spinal muscular atrophy type 1 -MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 Orphanet:139518 MONDO:equivalentTo Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmn1 -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant Orphanet:209335 MONDO:equivalentTo Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant adult-onset proximal sma -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant Orphanet:209335 MONDO:equivalentTo Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant late-onset spinal muscular atrophy, finkel type -MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant Orphanet:209335 MONDO:equivalentTo Autosomal dominant adult-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym finkel disease -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type Orphanet:263482 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-morquio syndrome type 2 -MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type Orphanet:263482 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia, maroteaux type -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant Orphanet:166100 MONDO:equivalentTo Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stickler syndrome, non-ocular type -MONDO:0008491 stiff-person syndrome Orphanet:3198 MONDO:equivalentTo Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym moersch-woltman syndrome -MONDO:0008491 stiff-person syndrome Orphanet:3198 MONDO:equivalentTo Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stiff man syndrome -MONDO:0008494 cryohydrocytosis Orphanet:398088 MONDO:equivalentTo Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cryohydrocytosis with normal stomatin -MONDO:0008495 platelet storage pool deficiency Orphanet:734 MONDO:equivalentTo Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha dense granule deficiency -MONDO:0008495 platelet storage pool deficiency Orphanet:734 MONDO:equivalentTo Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined alpha-delta platelet storage pool deficiency -MONDO:0008497 Stormorken syndrome Orphanet:3204 MONDO:equivalentTo Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stormorken syndrome -MONDO:0008497 Stormorken syndrome Orphanet:3204 MONDO:equivalentTo Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombocytopathy-asplenia-miosis syndrome -MONDO:0008497 Stormorken syndrome Orphanet:3204 MONDO:equivalentTo Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym stormorken syndrome -MONDO:0008538 temporal arteritis Orphanet:397 MONDO:equivalentTo Giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym horton disease -MONDO:0008538 temporal arteritis Orphanet:397 MONDO:equivalentTo Giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym temporal arteritis -MONDO:0008538 temporal arteritis Orphanet:397 MONDO:equivalentTo Giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell arteritis -MONDO:0008538 temporal arteritis Orphanet:397 MONDO:equivalentTo Giant cell arteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym temporal arteritis -MONDO:0008558 autoimmune thrombocytopenic purpura Orphanet:3002 MONDO:equivalentTo Immune thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immune thrombocytopenia -MONDO:0008564 DiGeorge syndrome Orphanet:567 MONDO:equivalentTo 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome -MONDO:0008564 DiGeorge syndrome Orphanet:567 MONDO:equivalentTo 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q11.2 deletion syndrome -MONDO:0008564 DiGeorge syndrome Orphanet:567 MONDO:equivalentTo 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digeorge syndrome -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly Orphanet:988 MONDO:equivalentTo Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym absent tibia-polydactyly syndrome -MONDO:0008582 tooth and nail syndrome Orphanet:2228 MONDO:equivalentTo Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypodontia-nail dysgenesis syndrome -MONDO:0008582 tooth and nail syndrome Orphanet:2228 MONDO:equivalentTo Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tooth and nail syndrome -MONDO:0008582 tooth and nail syndrome Orphanet:2228 MONDO:equivalentTo Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym witkop syndrome -MONDO:0008582 tooth and nail syndrome Orphanet:2228 MONDO:equivalentTo Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tooth and nail syndrome -MONDO:0008610 blue color blindness Orphanet:88629 MONDO:equivalentTo Tritanopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital tritanopia -MONDO:0008610 blue color blindness Orphanet:88629 MONDO:equivalentTo Tritanopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tritan colour blindness -MONDO:0008610 blue color blindness Orphanet:88629 MONDO:equivalentTo Tritanopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tritanopia -MONDO:0008644 velocardiofacial syndrome Orphanet:567 MONDO:equivalentTo 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0008644 velocardiofacial syndrome Orphanet:567 MONDO:equivalentTo 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym velocardiofacial syndrome -MONDO:0008668 von Willebrand disease 1 Orphanet:166078 MONDO:equivalentTo Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease type 1 -MONDO:0008686 isolated familial wooly hair disorder Orphanet:170 MONDO:equivalentTo Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial woolly hair syndrome -MONDO:0008686 isolated familial wooly hair disorder Orphanet:170 MONDO:equivalentTo Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial wooly hair syndrome -MONDO:0008686 isolated familial wooly hair disorder Orphanet:170 MONDO:equivalentTo Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary woolly hair syndrome -MONDO:0008686 isolated familial wooly hair disorder Orphanet:170 MONDO:equivalentTo Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary wooly hair syndrome -MONDO:0008686 isolated familial wooly hair disorder Orphanet:170 MONDO:equivalentTo Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair -MONDO:0008686 isolated familial wooly hair disorder Orphanet:170 MONDO:equivalentTo Woolly hair semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label woolly hair -MONDO:0008695 chorea-acanthocytosis Orphanet:2388 MONDO:equivalentTo Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chac -MONDO:0008695 chorea-acanthocytosis Orphanet:2388 MONDO:equivalentTo Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chorea-acanthocytosis -MONDO:0008695 chorea-acanthocytosis Orphanet:2388 MONDO:equivalentTo Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym levine-critchley syndrome -MONDO:0008695 chorea-acanthocytosis Orphanet:2388 MONDO:equivalentTo Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choreoacanthocytosis -MONDO:0008695 chorea-acanthocytosis Orphanet:2388 MONDO:equivalentTo Choreoacanthocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chorea-acanthocytosis -MONDO:0008699 achalasia microcephaly syndrome Orphanet:929 MONDO:equivalentTo Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia-microcephaly syndrome -MONDO:0008700 acheiropody Orphanet:931 MONDO:equivalentTo Acheiropodia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acheiropody -MONDO:0008700 acheiropody Orphanet:931 MONDO:equivalentTo Acheiropodia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acheiropodia -MONDO:0008700 acheiropody Orphanet:931 MONDO:equivalentTo Acheiropodia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acheiropody -MONDO:0008701 achondrogenesis type IA Orphanet:93299 MONDO:equivalentTo Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achondrogenesis, houston-harris type -MONDO:0008702 achondrogenesis type II Orphanet:93296 MONDO:equivalentTo Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achondrogenesis, langer-saldino type -MONDO:0008703 acromesomelic dysplasia 2A Orphanet:2098 MONDO:equivalentTo Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia, grebe type -MONDO:0008703 acromesomelic dysplasia 2A Orphanet:2098 MONDO:equivalentTo Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acromesomelic dysplasia, grebe type -MONDO:0008706 Ackerman syndrome Orphanet:79099 MONDO:equivalentTo Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ackerman syndrome -MONDO:0008706 Ackerman syndrome Orphanet:79099 MONDO:equivalentTo Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ackerman syndrome -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type Orphanet:968 MONDO:equivalentTo Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acromesomelic dwarfism -MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type Orphanet:968 MONDO:equivalentTo Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acromesomelic dysplasia, hunter-thompson type -MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Orphanet:63269 MONDO:equivalentTo Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antley-bixler syndrome with genital anomaly and disorder of steroidogenesis -MONDO:0008740 agnathia-otocephaly complex Orphanet:990 MONDO:equivalentTo Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label agnathia-holoprosencephaly-situs inversus syndrome -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome Orphanet:1005 MONDO:equivalentTo Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acd-intellectual disability syndrome -MONDO:0008756 alopecia - intellectual disability syndrome Orphanet:2850 MONDO:equivalentTo Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perniola-krajewska-carnevale syndrome -MONDO:0008756 alopecia - intellectual disability syndrome Orphanet:2850 MONDO:equivalentTo Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alopecia-intellectual disability syndrome -MONDO:0008758 mitochondrial DNA depletion syndrome 4a Orphanet:726 MONDO:equivalentTo Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpers progressive sclerosing poliodystrophy -MONDO:0008758 mitochondrial DNA depletion syndrome 4a Orphanet:726 MONDO:equivalentTo Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpers syndrome -MONDO:0008758 mitochondrial DNA depletion syndrome 4a Orphanet:726 MONDO:equivalentTo Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive neuronal degeneration of childhood with liver disease -MONDO:0008758 mitochondrial DNA depletion syndrome 4a Orphanet:726 MONDO:equivalentTo Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpers-huttenlocher syndrome -MONDO:0008759 oxoglutaricaciduria Orphanet:31 MONDO:equivalentTo Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency -MONDO:0008763 Alstrom syndrome Orphanet:64 MONDO:equivalentTo Alström syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alström syndrome -MONDO:0008771 amelogenesis imperfecta type 1G Orphanet:1031 MONDO:equivalentTo Enamel-renal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enamel-renal syndrome -MONDO:0008791 anencephaly 1 Orphanet:1048 MONDO:equivalentTo Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated anencephaly/exencephaly -MONDO:0008809 polyneuropathy-hand defect syndrome Orphanet:2926 MONDO:equivalentTo Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamanishi-ueba-tsuji syndrome -MONDO:0008809 polyneuropathy-hand defect syndrome Orphanet:2926 MONDO:equivalentTo Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyneuropathy-hand defect syndrome -MONDO:0008811 XK aprosencephaly Orphanet:3469 MONDO:equivalentTo XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym garcia-lurie syndrome -MONDO:0008811 XK aprosencephaly Orphanet:3469 MONDO:equivalentTo XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xk-aprosencephaly -MONDO:0008814 hyperargininemia Orphanet:90 MONDO:equivalentTo Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arginase deficiency -MONDO:0008814 hyperargininemia Orphanet:90 MONDO:equivalentTo Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperargininemia -MONDO:0008814 hyperargininemia Orphanet:90 MONDO:equivalentTo Argininemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label argininemia -MONDO:0008814 hyperargininemia Orphanet:90 MONDO:equivalentTo Argininemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperargininemia -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type Orphanet:1143 MONDO:equivalentTo Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurogenic arthrogryposis multiplex congenita -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Orphanet:2848 MONDO:equivalentTo Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthropathy-camptodactyly syndrome -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Orphanet:2848 MONDO:equivalentTo Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cacp syndrome -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Orphanet:2848 MONDO:equivalentTo Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jacobs syndrome -MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Orphanet:2848 MONDO:equivalentTo Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pericarditis-arthropathy-camptodactyly syndrome -MONDO:0008832 right atrial isomerism Orphanet:97548 MONDO:equivalentTo Right sided atrial isomerism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ivemark syndrome -MONDO:0008838 ataxia - deafness - intellectual disability syndrome Orphanet:1188 MONDO:equivalentTo Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-hearing loss-intellectual disability syndrome -MONDO:0008838 ataxia - deafness - intellectual disability syndrome Orphanet:1188 MONDO:equivalentTo Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reardon-baraitser syndrome -MONDO:0008840 ataxia telangiectasia Orphanet:100 MONDO:equivalentTo Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym louis-bar syndrome -MONDO:0008846 atransferrinemia Orphanet:1195 MONDO:equivalentTo Congenital atransferrinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital hypotransferrinemia -MONDO:0008846 atransferrinemia Orphanet:1195 MONDO:equivalentTo Congenital atransferrinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital atransferrinemia -MONDO:0008855 MHC class II deficiency Orphanet:572 MONDO:equivalentTo Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mhc class ii deficiency -MONDO:0008865 Bietti crystalline corneoretinal dystrophy Orphanet:41751 MONDO:equivalentTo Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bietti crystalline corneoretinal dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy Orphanet:41751 MONDO:equivalentTo Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bietti crystalline retinopathy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy Orphanet:41751 MONDO:equivalentTo Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bietti crystalline corneoretinal dystrophy -MONDO:0008867 biliary atresia Orphanet:30391 MONDO:equivalentTo Isolated biliary atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated atresia of bile ducts -MONDO:0008867 biliary atresia Orphanet:30391 MONDO:equivalentTo Isolated biliary atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-syndromic biliary atresia -MONDO:0008885 Elsahy-Waters syndrome Orphanet:1299 MONDO:equivalentTo Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bsg syndrome -MONDO:0008885 Elsahy-Waters syndrome Orphanet:1299 MONDO:equivalentTo Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elsahy-waters syndrome -MONDO:0008885 Elsahy-Waters syndrome Orphanet:1299 MONDO:equivalentTo Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym elsahy-waters syndrome -MONDO:0008889 thromboangiitis obliterans Orphanet:36258 MONDO:equivalentTo Buerger disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thromboangiitis obliterans -MONDO:0008889 thromboangiitis obliterans Orphanet:36258 MONDO:equivalentTo Buerger disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thromboangiitis obliterans -MONDO:0008907 PMM2-congenital disorder of glycosylation Orphanet:79318 MONDO:equivalentTo PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ia -MONDO:0008907 PMM2-congenital disorder of glycosylation Orphanet:79318 MONDO:equivalentTo PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ia -MONDO:0008907 PMM2-congenital disorder of glycosylation Orphanet:79318 MONDO:equivalentTo PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ia -MONDO:0008907 PMM2-congenital disorder of glycosylation Orphanet:79318 MONDO:equivalentTo PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1a -MONDO:0008907 PMM2-congenital disorder of glycosylation Orphanet:79318 MONDO:equivalentTo PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ia -MONDO:0008907 PMM2-congenital disorder of glycosylation Orphanet:79318 MONDO:equivalentTo PMM2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphomannomutase 2 deficiency -MONDO:0008908 MGAT2-congenital disorder of glycosylation Orphanet:79329 MONDO:equivalentTo MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iia -MONDO:0008908 MGAT2-congenital disorder of glycosylation Orphanet:79329 MONDO:equivalentTo MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iia -MONDO:0008908 MGAT2-congenital disorder of glycosylation Orphanet:79329 MONDO:equivalentTo MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iia -MONDO:0008908 MGAT2-congenital disorder of glycosylation Orphanet:79329 MONDO:equivalentTo MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2a -MONDO:0008908 MGAT2-congenital disorder of glycosylation Orphanet:79329 MONDO:equivalentTo MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iia -MONDO:0008908 MGAT2-congenital disorder of glycosylation Orphanet:79329 MONDO:equivalentTo MGAT2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym n-acetylglucosaminyltransferase 2 deficiency -MONDO:0008919 systemic primary carnitine deficiency disease Orphanet:158 MONDO:equivalentTo Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carnitine transporter defect -MONDO:0008919 systemic primary carnitine deficiency disease Orphanet:158 MONDO:equivalentTo Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carnitine uptake deficiency -MONDO:0008919 systemic primary carnitine deficiency disease Orphanet:158 MONDO:equivalentTo Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cud -MONDO:0008919 systemic primary carnitine deficiency disease Orphanet:158 MONDO:equivalentTo Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deficiency of plasma-membrane carnitine transporter -MONDO:0008921 carnosinemia Orphanet:1361 MONDO:equivalentTo Carnosinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carnosinase deficiency -MONDO:0008922 Sengers syndrome Orphanet:1369 MONDO:equivalentTo Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sengers syndrome -MONDO:0008922 Sengers syndrome Orphanet:1369 MONDO:equivalentTo Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sengers syndrome -MONDO:0008931 Cenani-Lenz syndactyly syndrome Orphanet:3258 MONDO:equivalentTo Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cenani syndactyly -MONDO:0008931 Cenani-Lenz syndactyly syndrome Orphanet:3258 MONDO:equivalentTo Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cenani-lenz syndactyly -MONDO:0008931 Cenani-Lenz syndactyly syndrome Orphanet:3258 MONDO:equivalentTo Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndactyly type 7 -MONDO:0008939 isolated cerebellar hypoplasia/agenesis Orphanet:1398 MONDO:equivalentTo Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym near total absence of cerebellum -MONDO:0008939 isolated cerebellar hypoplasia/agenesis Orphanet:1398 MONDO:equivalentTo Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subtotal absence of cerebellum -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 Orphanet:1170 MONDO:equivalentTo Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 2 -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Orphanet:90103 MONDO:equivalentTo Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease-hearing loss-intellectual disability syndrome -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Orphanet:90103 MONDO:equivalentTo Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Orphanet:90103 MONDO:equivalentTo Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disease-hearing loss-intellectual disability syndrome -MONDO:0008963 Chediak-Higashi syndrome Orphanet:167 MONDO:equivalentTo Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chédiak-higashi disease -MONDO:0008963 Chediak-Higashi syndrome Orphanet:167 MONDO:equivalentTo Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chédiak-higashi-steinbrink syndrome -MONDO:0008966 Aagenaes syndrome Orphanet:1414 MONDO:equivalentTo Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aagenaes syndrome -MONDO:0008966 Aagenaes syndrome Orphanet:1414 MONDO:equivalentTo Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aagenaes syndrome -MONDO:0008967 congenital bile acid synthesis defect 4 Orphanet:79095 MONDO:equivalentTo Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2-methylacyl-coa racemase deficiency -MONDO:0008967 congenital bile acid synthesis defect 4 Orphanet:79095 MONDO:equivalentTo Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-methyl-acyl-coa racemase deficiency -MONDO:0008967 congenital bile acid synthesis defect 4 Orphanet:79095 MONDO:equivalentTo Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome -MONDO:0008967 congenital bile acid synthesis defect 4 Orphanet:79095 MONDO:equivalentTo Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 4 -MONDO:0008970 chondrodysplasia Blomstrand type Orphanet:50945 MONDO:equivalentTo Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blomstrand chondrodysplasia -MONDO:0008970 chondrodysplasia Blomstrand type Orphanet:50945 MONDO:equivalentTo Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blomstrand osteochondrodysplasia -MONDO:0008970 chondrodysplasia Blomstrand type Orphanet:50945 MONDO:equivalentTo Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia, blomstrand type -MONDO:0008970 chondrodysplasia Blomstrand type Orphanet:50945 MONDO:equivalentTo Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blomstrand lethal chondrodysplasia -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome Orphanet:1338 MONDO:equivalentTo Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ostravik-lindemann-solberg syndrome -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea Orphanet:293603 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive ched -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea Orphanet:293603 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive congenital hereditary endothelial dystrophy -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea Orphanet:293603 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital hereditary endothelial dystrophy type 2 -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea Orphanet:293603 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hereditary endothelial dystrophy -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia Orphanet:189427 MONDO:equivalentTo Cushing syndrome due to bilateral macronodular adrenocortical disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cushing syndrome due to macronodular adrenal hyperplasia -MONDO:0009050 Cushing disease due to pituitary adenoma Orphanet:96253 MONDO:equivalentTo Cushing disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym corticotroph pituitary adenoma -MONDO:0009050 Cushing disease due to pituitary adenoma Orphanet:96253 MONDO:equivalentTo Cushing disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary corticotroph micro-adenoma -MONDO:0009050 Cushing disease due to pituitary adenoma Orphanet:96253 MONDO:equivalentTo Cushing disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary-dependent cushing syndrome -MONDO:0009068 cytochrome-c oxidase deficiency disease Orphanet:254905 MONDO:equivalentTo Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated cox deficiency -MONDO:0009068 cytochrome-c oxidase deficiency disease Orphanet:254905 MONDO:equivalentTo Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex iv deficiency -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities Orphanet:231720 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Orphanet:2770 MONDO:equivalentTo Nasu-Hakola disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plo-sl -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Orphanet:2770 MONDO:equivalentTo Nasu-Hakola disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly Orphanet:2770 MONDO:equivalentTo Nasu-Hakola disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasu-hakola disease -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phenotypic diarrhea -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sd/the -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic diarrhea/tricho-hepato-enteric syndrome -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tricho-hepato-enteric syndrome -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichohepatoenteric syndrome -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic diarrhea -MONDO:0009105 trichohepatoenteric syndrome Orphanet:84064 MONDO:equivalentTo Syndromic diarrhea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trichohepatoenteric syndrome -MONDO:0009106 diastematomyelia Orphanet:1671 MONDO:equivalentTo Split cord malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diastematomyelia -MONDO:0009106 diastematomyelia Orphanet:1671 MONDO:equivalentTo Split cord malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scm type 1 -MONDO:0009106 diastematomyelia Orphanet:1671 MONDO:equivalentTo Split cord malformation type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split cord malformation type 1 -MONDO:0009106 diastematomyelia Orphanet:1671 MONDO:equivalentTo Split cord malformation type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diastematomyelia -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment Orphanet:2464 MONDO:equivalentTo Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfanoid syndrome, de silva type -MONDO:0009123 orthostatic hypotension 1 Orphanet:230 MONDO:equivalentTo Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine beta-hydroxylase deficiency -MONDO:0009131 Riley-Day syndrome Orphanet:1764 MONDO:equivalentTo Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 -MONDO:0009131 Riley-Day syndrome Orphanet:1764 MONDO:equivalentTo Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type iii -MONDO:0009131 Riley-Day syndrome Orphanet:1764 MONDO:equivalentTo Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riley-day syndrome -MONDO:0009131 Riley-Day syndrome Orphanet:1764 MONDO:equivalentTo Familial dysautonomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial dysautonomia -MONDO:0009131 Riley-Day syndrome Orphanet:1764 MONDO:equivalentTo Familial dysautonomia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym riley-day syndrome -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium Orphanet:1766 MONDO:equivalentTo Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camrq syndrome -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium Orphanet:1766 MONDO:equivalentTo Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-progressive cerebellar ataxia-intellectual disability syndrome -MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium Orphanet:1766 MONDO:equivalentTo Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysequilibrium syndrome -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda ii -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 2 -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type ii -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 2 -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sec23b-cdg -MONDO:0009134 congenital dyserythropoietic anemia type 2 Orphanet:98873 MONDO:equivalentTo Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 2 -MONDO:0009144 Ebstein anomaly Orphanet:1880 MONDO:equivalentTo Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebstein anomaly of the tricuspid valve -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome Orphanet:50944 MONDO:equivalentTo Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eccrine tumors-ectodermal dysplasia -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome Orphanet:50944 MONDO:equivalentTo Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome Orphanet:50944 MONDO:equivalentTo Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome Orphanet:50944 MONDO:equivalentTo Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type Orphanet:1901 MONDO:equivalentTo Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 7c -MONDO:0009162 Ellis-van Creveld syndrome Orphanet:289 MONDO:equivalentTo Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondroectodermal dysplasia -MONDO:0009162 Ellis-van Creveld syndrome Orphanet:289 MONDO:equivalentTo Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermic dysplasia -MONDO:0009168 Fowler syndrome Orphanet:221126 MONDO:equivalentTo Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral proliferative glomeruloid vasculopathy -MONDO:0009168 Fowler syndrome Orphanet:221126 MONDO:equivalentTo Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephaloclastic proliferative vasculopathy -MONDO:0009168 Fowler syndrome Orphanet:221126 MONDO:equivalentTo Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephaly/hydranencephaly due to cerebral vasculopathy -MONDO:0009168 Fowler syndrome Orphanet:221126 MONDO:equivalentTo Fowler vasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly/hydrocephaly -MONDO:0009168 Fowler syndrome Orphanet:2795 MONDO:equivalentTo Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler syndrome -MONDO:0009168 Fowler syndrome Orphanet:2795 MONDO:equivalentTo Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fowler syndrome -MONDO:0009179 recessive dystrophic epidermolysis bullosa Orphanet:79408 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dystrophic epidermolysis bullosa generalisata gravis -MONDO:0009179 recessive dystrophic epidermolysis bullosa Orphanet:79408 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type -MONDO:0009179 recessive dystrophic epidermolysis bullosa Orphanet:79408 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rdeb generalisata gravis -MONDO:0009179 recessive dystrophic epidermolysis bullosa Orphanet:79408 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rdeb, hallopeau-siemens type -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy Orphanet:257 MONDO:equivalentTo Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-md -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy Orphanet:257 MONDO:equivalentTo Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy with epidermolysis bullosa simplex -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy Orphanet:257 MONDO:equivalentTo Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex with muscular dystrophy -MONDO:0009182 junctional epidermolysis bullosa Herlitz type Orphanet:79404 MONDO:equivalentTo Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermolysis bullosa letalis -MONDO:0009182 junctional epidermolysis bullosa Herlitz type Orphanet:79404 MONDO:equivalentTo Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-h -MONDO:0009182 junctional epidermolysis bullosa Herlitz type Orphanet:79404 MONDO:equivalentTo Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa generalisata gravis -MONDO:0009182 junctional epidermolysis bullosa Herlitz type Orphanet:79404 MONDO:equivalentTo Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz-pearson type -MONDO:0009194 immunodeficiency 32B Orphanet:2566 MONDO:equivalentTo Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caebv syndrome -MONDO:0009194 immunodeficiency 32B Orphanet:2566 MONDO:equivalentTo Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic ebv infection syndrome -MONDO:0009194 immunodeficiency 32B Orphanet:2566 MONDO:equivalentTo Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic epstein-barr virus infection syndrome -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency Orphanet:2088 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to glut2 deficiency -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency Orphanet:2088 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glut2 deficiency -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency Orphanet:2088 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to glut2 deficiency -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency Orphanet:2088 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fanconi-bickel syndrome -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency Orphanet:2088 MONDO:equivalentTo Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disease due to glut2 deficiency -MONDO:0009218 Farber lipogranulomatosis Orphanet:333 MONDO:equivalentTo Farber disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid ceramidase deficiency -MONDO:0009218 Farber lipogranulomatosis Orphanet:333 MONDO:equivalentTo Farber disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym farber lipogranulomatosis -MONDO:0009218 Farber lipogranulomatosis Orphanet:333 MONDO:equivalentTo Farber disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label farber disease -MONDO:0009218 Farber lipogranulomatosis Orphanet:333 MONDO:equivalentTo Farber disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym farber lipogranulomatosis -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet:325448 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to lhb deficiency -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet:325448 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet:325448 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to lhb deficiency -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet:325448 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to luteinizing hormone subunit beta deficiency -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet:325448 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet:325448 MONDO:equivalentTo Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leydig cell hypoplasia due to lhb deficiency -MONDO:0009231 acromesomelic dysplasia 2B Orphanet:2639 MONDO:equivalentTo Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym du pan syndrome -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia Orphanet:52901 MONDO:equivalentTo Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated fsh deficiency -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency Orphanet:33574 MONDO:equivalentTo Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutamate-cysteine ligase deficiency -MONDO:0009259 gamma-glutamylcysteine synthetase deficiency Orphanet:33574 MONDO:equivalentTo Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gamma-glutamylcysteine synthetase deficiency -MONDO:0009265 Gaucher disease type I Orphanet:355 MONDO:equivalentTo Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency -MONDO:0009265 Gaucher disease type I Orphanet:77259 MONDO:equivalentTo Gaucher disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-cerebral juvenile gaucher disease -MONDO:0009266 Gaucher disease type II Orphanet:77260 MONDO:equivalentTo Gaucher disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute neuronopathic gaucher disease -MONDO:0009266 Gaucher disease type II Orphanet:77260 MONDO:equivalentTo Gaucher disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile cerebral gaucher disease -MONDO:0009267 Gaucher disease type III Orphanet:77261 MONDO:equivalentTo Gaucher disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral juvenile and adult form of gaucher disease -MONDO:0009267 Gaucher disease type III Orphanet:77261 MONDO:equivalentTo Gaucher disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic neuronopathic gaucher disease -MONDO:0009267 Gaucher disease type III Orphanet:77261 MONDO:equivalentTo Gaucher disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disease, subacute neuronopathic type -MONDO:0009270 genito-palato-cardiac syndrome Orphanet:2075 MONDO:equivalentTo Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gardner-silengo-wachtel syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2a syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3a syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4a syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aaa syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achalasia-addisonianism-alacrima syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenal insufficiency-achalasia-alacrima syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allgrove syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double a syndrome -MONDO:0009279 triple-A syndrome Orphanet:869 MONDO:equivalentTo Triple A syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym quaternary a syndrome -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6p deficiency type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6p translocase deficiency -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym g6pt deficiency -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to g6p deficiency type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 1b -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glucose-6-phosphatase deficiency type 1b -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glucose-6-phosphatase transport defect type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 1b -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to g6p deficiency type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to g6pt deficiency -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 1 non a -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 1b -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ib -MONDO:0009288 glycogen storage disease Ib Orphanet:79259 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsdib -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-1,4-glucosidase acid deficiency -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 2 -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ii -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to acid maltase deficiency -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 2 -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ii -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to acid maltase deficiency -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 2 -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ii -MONDO:0009290 glycogen storage disease II Orphanet:365 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pompe disease -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amylo-1,6-glucosidase deficiency -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cori disease -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cori-forbes disease -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forbes disease -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gde deficiency -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 3 -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type iii -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to glycogen debranching enzyme deficiency -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 3 -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type iii -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to glycogen debranching enzyme deficiency -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 3 -MONDO:0009291 glycogen storage disease III Orphanet:366 MONDO:equivalentTo Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limit dextrinosis -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 5 -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type v -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to muscle glycogen phosphorylase deficiency -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 5 -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type v -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to muscle glycogen phosphorylase deficiency -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 5 -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type v -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcardle disease -MONDO:0009293 glycogen storage disease V Orphanet:368 MONDO:equivalentTo Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myophosphorylase deficiency -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 6 -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type vi -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to liver glycogen phosphorylase deficiency -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 6 -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type vi -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to liver glycogen phosphorylase deficiency -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 6 -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type vi -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic glycogen phosphorylase deficiency -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatic phosphorylase deficiency -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hers disease -MONDO:0009294 glycogen storage disease VI Orphanet:369 MONDO:equivalentTo Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver glycogen phosphorylase deficiency -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 7 -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type vii -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to muscle phosphofructokinase deficiency -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 7 -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type vii -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to muscle phosphofructokinase deficiency -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 7 -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type vii -MONDO:0009295 glycogen storage disease VII Orphanet:371 MONDO:equivalentTo Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tarui disease -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx complete gonadal dysgenesis -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx ovarian dysgenesis -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx pure gonadal dysgenesis -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypergonadotropic ovarian dysgenesis -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xx female gonadal dysgenesis -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xx-gd -MONDO:0009299 46 XX gonadal dysgenesis Orphanet:243 MONDO:equivalentTo 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 46,xx gonadal dysgenesis -MONDO:0009300 Perrault syndrome 1 Orphanet:642945 MONDO:equivalentTo Perrault syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perrault syndrome type 1 -MONDO:0009306 combined immunodeficiency with skin granulomas Orphanet:157949 MONDO:equivalentTo Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag 1/2 deficiency -MONDO:0009306 combined immunodeficiency with skin granulomas Orphanet:157949 MONDO:equivalentTo Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag 1/2 deficiency -MONDO:0009339 congenital bile acid synthesis defect 2 Orphanet:79303 MONDO:equivalentTo Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency -MONDO:0009339 congenital bile acid synthesis defect 2 Orphanet:79303 MONDO:equivalentTo Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 2 -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome Orphanet:2155 MONDO:equivalentTo Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santos-mateus-leal syndrome -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome Orphanet:2155 MONDO:equivalentTo Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disease-hearing loss-polydactyly syndrome -MONDO:0009346 histidinuria due to a renal tubular defect Orphanet:2158 MONDO:equivalentTo Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label histidinuria-renal tubular defect syndrome -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome Orphanet:2167 MONDO:equivalentTo Holzgreve syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cleft palate-potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome Orphanet:2167 MONDO:equivalentTo Holzgreve syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label holzgreve syndrome -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome Orphanet:2167 MONDO:equivalentTo Holzgreve syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym holzgreve-wagner-rehder syndrome -MONDO:0009372 encephalopathy due to hydroxykynureninuria Orphanet:79155 MONDO:equivalentTo Hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kynureninase deficiency -MONDO:0009372 encephalopathy due to hydroxykynureninuria Orphanet:79155 MONDO:equivalentTo Hydroxykynureninuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthurenic aciduria -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease Orphanet:147 MONDO:equivalentTo Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbamoyl-phosphate synthetase deficiency -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease Orphanet:147 MONDO:equivalentTo Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbamoyl-phosphate synthetase i deficiency -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease Orphanet:147 MONDO:equivalentTo Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cps1 deficiency -MONDO:0009393 ornithine translocase deficiency Orphanet:415 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hhh syndrome -MONDO:0009393 ornithine translocase deficiency Orphanet:415 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine carrier deficiency -MONDO:0009393 ornithine translocase deficiency Orphanet:415 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine translocase deficiency -MONDO:0009393 ornithine translocase deficiency Orphanet:415 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornt1 deficiency -MONDO:0009393 ornithine translocase deficiency Orphanet:415 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym triple h syndrome -MONDO:0009393 ornithine translocase deficiency Orphanet:415 MONDO:equivalentTo Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithine translocase deficiency -MONDO:0009402 acrofrontofacionasal dysostosis 2 Orphanet:2211 MONDO:equivalentTo Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 2 -MONDO:0009402 acrofrontofacionasal dysostosis 2 Orphanet:2211 MONDO:equivalentTo Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrofrontofacionasal syndrome type 2 -MONDO:0009402 acrofrontofacionasal dysostosis 2 Orphanet:2211 MONDO:equivalentTo Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naguib-richieri-costa syndrome -MONDO:0009402 acrofrontofacionasal dysostosis 2 Orphanet:2211 MONDO:equivalentTo Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertelorism-hypospadias-polysyndactyly syndrome -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome Orphanet:2213 MONDO:equivalentTo Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bixler-christian-gorlin syndrome -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome Orphanet:2213 MONDO:equivalentTo Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmc syndrome -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome Orphanet:2213 MONDO:equivalentTo Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertelorism-microtia-facial clefting syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apeced syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aps type 1 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune polyendocrine syndrome type 1 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune polyglandular syndrome type 1 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ham syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medac syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple endocrine deficiency-addison disease-candidiasis syndrome -MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet:3453 MONDO:equivalentTo Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune polyendocrine syndrome type 1 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency Orphanet:2089 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease due to liver glycogen synthase deficiency -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency Orphanet:2089 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 0a -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency Orphanet:2089 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 0a -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency Orphanet:2089 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to hepatic glycogen synthase deficiency -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency Orphanet:2089 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 0a -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency Orphanet:2089 MONDO:equivalentTo Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease due to hepatic glycogen synthase deficiency -MONDO:0009424 Bartter disease type 2 Orphanet:620220 MONDO:equivalentTo Bartter syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 2 -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet:2323 MONDO:equivalentTo Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hrd syndrome -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet:2323 MONDO:equivalentTo Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoparathyroidism-intellectual disability-dysmorphism syndrome -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet:2323 MONDO:equivalentTo Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoparathyroidism-short stature-intellectual disability-seizures syndrome -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet:2323 MONDO:equivalentTo Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richardson-kirk syndrome -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet:2323 MONDO:equivalentTo Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanjad-sakati syndrome -MONDO:0009443 autosomal recessive congenital ichthyosis 4B Orphanet:457 MONDO:equivalentTo Harlequin ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hi -MONDO:0009443 autosomal recessive congenital ichthyosis 4B Orphanet:457 MONDO:equivalentTo Harlequin ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis congenita, harlequin type -MONDO:0009443 autosomal recessive congenital ichthyosis 4B Orphanet:457 MONDO:equivalentTo Harlequin ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label harlequin ichthyosis -MONDO:0009451 Nezelof syndrome Orphanet:83471 MONDO:equivalentTo T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nezelof syndrome -MONDO:0009451 Nezelof syndrome Orphanet:83471 MONDO:equivalentTo T-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nezelof syndrome -MONDO:0009461 spermatogenic failure 5 Orphanet:137893 MONDO:equivalentTo Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macrocephalic sperm head syndrome -MONDO:0009461 spermatogenic failure 5 Orphanet:137893 MONDO:equivalentTo Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to macrozoospermia -MONDO:0009461 spermatogenic failure 5 Orphanet:137893 MONDO:equivalentTo Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label male infertility due to large-headed multiflagellar polyploid spermatozoa -MONDO:0009468 pseudotumor cerebri Orphanet:238624 MONDO:equivalentTo Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign intracranial hypertension -MONDO:0009468 pseudotumor cerebri Orphanet:238624 MONDO:equivalentTo Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotumor cerebri -MONDO:0009468 pseudotumor cerebri Orphanet:238624 MONDO:equivalentTo Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic intracranial hypertension -MONDO:0009468 pseudotumor cerebri Orphanet:238624 MONDO:equivalentTo Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudotumor cerebri -MONDO:0009476 atresia of small intestine Orphanet:1201 MONDO:equivalentTo Small bowel atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jejunal atresia -MONDO:0009476 atresia of small intestine Orphanet:1201 MONDO:equivalentTo Small bowel atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jejunoileal atresia -MONDO:0009476 atresia of small intestine Orphanet:1201 MONDO:equivalentTo Small bowel atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym small intestinal atresia -MONDO:0009476 atresia of small intestine Orphanet:1201 MONDO:equivalentTo Small bowel atresia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atresia of small intestine -MONDO:0009477 Stromme syndrome Orphanet:444069 MONDO:equivalentTo Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome -MONDO:0009490 Papillon-Lefevre disease Orphanet:678 MONDO:equivalentTo Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantar-periodontopathy syndrome -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet:832 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oxct1 deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet:832 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scot deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet:832 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinyl-coa acetoacetate transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet:832 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym succinyl-coa:3-ketoacid coa transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet:832 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label succinyl-coa:3-oxoacid coa transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet:832 MONDO:equivalentTo Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym succinyl-coa:3-ketoacid coa transferase deficiency -MONDO:0009506 specific granule deficiency Orphanet:169142 MONDO:equivalentTo Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutrophil-specific granule deficiency -MONDO:0009506 specific granule deficiency Orphanet:169142 MONDO:equivalentTo Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label recurrent infection due to specific granule deficiency -MONDO:0009515 Norum disease Orphanet:79293 MONDO:equivalentTo Familial LCAT deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complete lcat deficiency -MONDO:0009515 Norum disease Orphanet:79293 MONDO:equivalentTo Familial LCAT deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym norum disease -MONDO:0009515 Norum disease Orphanet:79293 MONDO:equivalentTo Familial LCAT deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym norum disease -MONDO:0009517 Donohue syndrome Orphanet:508 MONDO:equivalentTo Leprechaunism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym donohue syndrome -MONDO:0009517 Donohue syndrome Orphanet:508 MONDO:equivalentTo Leprechaunism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leprechaunism -MONDO:0009517 Donohue syndrome Orphanet:508 MONDO:equivalentTo Leprechaunism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym donohue syndrome -MONDO:0009525 split hand-foot malformation 3 Orphanet:1307 MONDO:equivalentTo Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 10q24 microduplication syndrome -MONDO:0009525 split hand-foot malformation 3 Orphanet:1307 MONDO:equivalentTo Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buttiens-fryns syndrome -MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome Orphanet:2492 MONDO:equivalentTo FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibular aplasia-tibial campomelia-oligosyndactyly syndrome -MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome Orphanet:2492 MONDO:equivalentTo FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fatco syndrome -MONDO:0009532 Miller-Dieker lissencephaly syndrome Orphanet:531 MONDO:equivalentTo Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly due to 17p13.3 deletion -MONDO:0009532 Miller-Dieker lissencephaly syndrome Orphanet:531 MONDO:equivalentTo Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17p13.3 -MONDO:0009532 Miller-Dieker lissencephaly syndrome Orphanet:531 MONDO:equivalentTo Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 17p -MONDO:0009532 Miller-Dieker lissencephaly syndrome Orphanet:531 MONDO:equivalentTo Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label miller-dieker syndrome -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement Orphanet:2196 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhhnc with severe ocular involvement -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement Orphanet:2196 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercalciuria-bilateral macular coloboma syndrome -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement Orphanet:2196 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-blumberg-imahorn syndrome -MONDO:0009550 renal hypomagnesemia 3 Orphanet:31043 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhhnc without severe ocular involvement -MONDO:0009550 renal hypomagnesemia 3 Orphanet:31043 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal hypomagnesemia type 3 -MONDO:0009568 mast syndrome Orphanet:101001 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast syndrome -MONDO:0009568 mast syndrome Orphanet:101001 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 21 -MONDO:0009568 mast syndrome Orphanet:101001 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mast syndrome -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type Orphanet:2728 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharophimosis syndrome, ohdo type -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type Orphanet:2728 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, ohdo type -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type Orphanet:2728 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohdo syndrome -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type Orphanet:2728 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohdo-madokoro-sonoda syndrome -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria Orphanet:1035 MONDO:equivalentTo Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-mercaptopyruvate sulfurtransferase deficiency -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria Orphanet:1035 MONDO:equivalentTo Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ampola syndrome -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency Orphanet:88639 MONDO:equivalentTo Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hibch deficiency -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency Orphanet:88639 MONDO:equivalentTo Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methacrylic aciduria -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency Orphanet:88639 MONDO:equivalentTo Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency -MONDO:0009607 methionine adenosyltransferase deficiency Orphanet:168598 MONDO:equivalentTo Methionine adenosyltransferase I/III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat i/iii deficiency -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Orphanet:27 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonyl-coa mutase deficiency -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Orphanet:27 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonyl-coenzyme a mutase deficiency -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Orphanet:27 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12-unresponsive methylmalonic aciduria -MONDO:0009613 methylmalonic aciduria, cblA type Orphanet:79310 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12-responsive methylmalonic aciduria type cbla -MONDO:0009613 methylmalonic aciduria, cblA type Orphanet:79310 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vitamin b12-responsive methylmalonic acidemia type cbla -MONDO:0009614 methylmalonic aciduria, cblB type Orphanet:79311 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin b12-responsive methylmalonic aciduria, type cblb -MONDO:0009614 methylmalonic aciduria, cblB type Orphanet:79311 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vitamin b12-responsive methylmalonic acidemia type cblb -MONDO:0009624 microcephaly and chorioretinopathy 1 Orphanet:2518 MONDO:equivalentTo Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym baraitser-brett-piesowicz syndrome -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym baraitser-reardon syndrome -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bilateral band-like calcification with polymicrogyria -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blc-pmg -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-intracranial calcification-intellectual disability syndrome -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome -MONDO:0009626 pseudo-TORCH syndrome Orphanet:1229 MONDO:equivalentTo Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome -MONDO:0009637 inborn mitochondrial myopathy Orphanet:206966 MONDO:equivalentTo Mitochondrial myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial myopathy -MONDO:0009642 orofaciodigital syndrome type II Orphanet:2751 MONDO:equivalentTo Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mohr syndrome -MONDO:0009642 orofaciodigital syndrome type II Orphanet:2751 MONDO:equivalentTo Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 2 -MONDO:0009652 GNPTG-mucolipidosis Orphanet:423470 MONDO:equivalentTo Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml 3 gamma -MONDO:0009652 GNPTG-mucolipidosis Orphanet:423470 MONDO:equivalentTo Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml iii gamma -MONDO:0009652 GNPTG-mucolipidosis Orphanet:423470 MONDO:equivalentTo Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis type 3 gamma -MONDO:0009652 GNPTG-mucolipidosis Orphanet:423470 MONDO:equivalentTo Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucolipidosis type iii gamma -MONDO:0009655 mucopolysaccharidosis type 3A Orphanet:79269 MONDO:equivalentTo Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan sulfamidase deficiency -MONDO:0009655 mucopolysaccharidosis type 3A Orphanet:79269 MONDO:equivalentTo Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3a -MONDO:0009655 mucopolysaccharidosis type 3A Orphanet:79269 MONDO:equivalentTo Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia -MONDO:0009655 mucopolysaccharidosis type 3A Orphanet:79269 MONDO:equivalentTo Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type a -MONDO:0009655 mucopolysaccharidosis type 3A Orphanet:79269 MONDO:equivalentTo Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3a -MONDO:0009656 mucopolysaccharidosis type 3B Orphanet:79270 MONDO:equivalentTo Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3b -MONDO:0009656 mucopolysaccharidosis type 3B Orphanet:79270 MONDO:equivalentTo Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib -MONDO:0009656 mucopolysaccharidosis type 3B Orphanet:79270 MONDO:equivalentTo Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym n-acetyl-alpha-glucosaminidase deficiency -MONDO:0009656 mucopolysaccharidosis type 3B Orphanet:79270 MONDO:equivalentTo Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type b -MONDO:0009656 mucopolysaccharidosis type 3B Orphanet:79270 MONDO:equivalentTo Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3b -MONDO:0009657 mucopolysaccharidosis type 3C Orphanet:79271 MONDO:equivalentTo Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan-alpha-glucosaminide n-acetyltransferase deficiency -MONDO:0009657 mucopolysaccharidosis type 3C Orphanet:79271 MONDO:equivalentTo Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hgsnat deficiency -MONDO:0009657 mucopolysaccharidosis type 3C Orphanet:79271 MONDO:equivalentTo Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3c -MONDO:0009657 mucopolysaccharidosis type 3C Orphanet:79271 MONDO:equivalentTo Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiic -MONDO:0009657 mucopolysaccharidosis type 3C Orphanet:79271 MONDO:equivalentTo Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type c -MONDO:0009657 mucopolysaccharidosis type 3C Orphanet:79271 MONDO:equivalentTo Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3c -MONDO:0009658 mucopolysaccharidosis type 3D Orphanet:79272 MONDO:equivalentTo Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosamine n-acetyl-6-sulfatase deficiency -MONDO:0009658 mucopolysaccharidosis type 3D Orphanet:79272 MONDO:equivalentTo Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gns deficiency -MONDO:0009658 mucopolysaccharidosis type 3D Orphanet:79272 MONDO:equivalentTo Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 3d -MONDO:0009658 mucopolysaccharidosis type 3D Orphanet:79272 MONDO:equivalentTo Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type iiid -MONDO:0009658 mucopolysaccharidosis type 3D Orphanet:79272 MONDO:equivalentTo Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sanfilippo syndrome type d -MONDO:0009658 mucopolysaccharidosis type 3D Orphanet:79272 MONDO:equivalentTo Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 3d -MONDO:0009669 spinal muscular atrophy, type 1 Orphanet:83330 MONDO:equivalentTo Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 1 -MONDO:0009669 spinal muscular atrophy, type 1 Orphanet:83330 MONDO:equivalentTo Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type i -MONDO:0009669 spinal muscular atrophy, type 1 Orphanet:83330 MONDO:equivalentTo Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-i -MONDO:0009669 spinal muscular atrophy, type 1 Orphanet:83330 MONDO:equivalentTo Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym werdnig-hoffmann disease -MONDO:0009670 lethal congenital contracture syndrome 1 Orphanet:1486 MONDO:equivalentTo Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herva disease -MONDO:0009670 lethal congenital contracture syndrome 1 Orphanet:1486 MONDO:equivalentTo Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple contracture syndrome, finnish type -MONDO:0009670 lethal congenital contracture syndrome 1 Orphanet:1486 MONDO:equivalentTo Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal congenital contracture syndrome type 1 -MONDO:0009672 spinal muscular atrophy, type III Orphanet:83419 MONDO:equivalentTo Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kugelberg-welander disease -MONDO:0009672 spinal muscular atrophy, type III Orphanet:83419 MONDO:equivalentTo Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 3 -MONDO:0009672 spinal muscular atrophy, type III Orphanet:83419 MONDO:equivalentTo Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type iii -MONDO:0009672 spinal muscular atrophy, type III Orphanet:83419 MONDO:equivalentTo Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-iii -MONDO:0009673 spinal muscular atrophy, type II Orphanet:83418 MONDO:equivalentTo Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intermediate spinal muscular atrophy -MONDO:0009673 spinal muscular atrophy, type II Orphanet:83418 MONDO:equivalentTo Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 2 -MONDO:0009673 spinal muscular atrophy, type II Orphanet:83418 MONDO:equivalentTo Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type ii -MONDO:0009673 spinal muscular atrophy, type II Orphanet:83418 MONDO:equivalentTo Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-ii -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet:267 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2a -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet:267 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to calpain deficiency -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet:267 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2a -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet:267 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary calpainopathy -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet:267 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2a -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B Orphanet:268 MONDO:equivalentTo Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to dysferlin deficiency -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B Orphanet:268 MONDO:equivalentTo Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2b -MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B Orphanet:268 MONDO:equivalentTo Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2b -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C Orphanet:353 MONDO:equivalentTo Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2c -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C Orphanet:353 MONDO:equivalentTo Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gamma-sarcoglycanopathy -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C Orphanet:353 MONDO:equivalentTo Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C Orphanet:353 MONDO:equivalentTo Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2c -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Orphanet:272 MONDO:equivalentTo Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fukuyama congenital muscular dystrophy -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H Orphanet:1878 MONDO:equivalentTo TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2h -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H Orphanet:1878 MONDO:equivalentTo TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to trim32 deficiency -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H Orphanet:1878 MONDO:equivalentTo TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcotubular myopathy -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H Orphanet:1878 MONDO:equivalentTo TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2h -MONDO:0009691 mycosis fungoides Orphanet:2584 MONDO:equivalentTo Classic mycosis fungoides semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycosis fungoides, alibert-bazin type -MONDO:0009693 plasma cell myeloma Orphanet:29073 MONDO:equivalentTo Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kahler disease -MONDO:0009693 plasma cell myeloma Orphanet:29073 MONDO:equivalentTo Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary plasmacytoma -MONDO:0009693 plasma cell myeloma Orphanet:29073 MONDO:equivalentTo Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelomatosis -MONDO:0009693 plasma cell myeloma Orphanet:29073 MONDO:equivalentTo Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plasma cell myeloma -MONDO:0009693 plasma cell myeloma Orphanet:29073 MONDO:equivalentTo Multiple myeloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple myeloma -MONDO:0009693 plasma cell myeloma Orphanet:29073 MONDO:equivalentTo Multiple myeloma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym plasma cell myeloma -MONDO:0009698 Unverricht-Lundborg syndrome Orphanet:308 MONDO:equivalentTo Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonus epilepsy type 1 -MONDO:0009698 Unverricht-Lundborg syndrome Orphanet:308 MONDO:equivalentTo Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym unverricht-lundborg disease -MONDO:0009698 Unverricht-Lundborg syndrome Orphanet:308 MONDO:equivalentTo Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive myoclonic epilepsy type 1 -MONDO:0009708 myopathy, myosin storage, autosomal recessive Orphanet:636970 MONDO:equivalentTo Autosomal recessive myosin storage myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive myosin storage myopathy -MONDO:0009722 Bailey-Bloch congenital myopathy Orphanet:168572 MONDO:equivalentTo Native American myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital myopathy-cleft palate-malignant hyperthermia syndrome -MONDO:0009722 Bailey-Bloch congenital myopathy Orphanet:168572 MONDO:equivalentTo Native American myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label native american myopathy -MONDO:0009726 proteosome-associated autoinflammatory syndrome Orphanet:324977 MONDO:equivalentTo Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aldd syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome Orphanet:324977 MONDO:equivalentTo Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoinflammation-lipodystrophy-dermatosis syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome Orphanet:324977 MONDO:equivalentTo Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proteasome disability syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome Orphanet:324977 MONDO:equivalentTo Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proteasome-associated autoinflammatory syndrome -MONDO:0009728 nephronophthisis 1 Orphanet:93592 MONDO:equivalentTo Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile nephronophthisis -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome Orphanet:2668 MONDO:equivalentTo Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edwards-patton-dilly syndrome -MONDO:0009736 Neu-Laxova syndrome 1 Orphanet:583607 MONDO:equivalentTo Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-phosphoglycerate dehydrogenase deficiency, prenatal form -MONDO:0009736 Neu-Laxova syndrome 1 Orphanet:583607 MONDO:equivalentTo Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency -MONDO:0009744 neuronal ceroid lipofuscinosis 1 Orphanet:228329 MONDO:equivalentTo CLN1 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cln1 disease -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Orphanet:255229 MONDO:equivalentTo Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym navajo neuropathy -MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Orphanet:255229 MONDO:equivalentTo Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label navajo neurohepatopathy -MONDO:0009749 giant axonal neuropathy 1 Orphanet:643 MONDO:equivalentTo Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan -MONDO:0009756 Niemann-Pick disease type A Orphanet:77292 MONDO:equivalentTo Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym niemann-pick disease type a -MONDO:0009760 Norman-Roberts syndrome Orphanet:89844 MONDO:equivalentTo Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microlissencephaly type a -MONDO:0009760 Norman-Roberts syndrome Orphanet:89844 MONDO:equivalentTo Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly syndrome, norman-roberts type -MONDO:0009772 oculorenocerebellar syndrome Orphanet:2715 MONDO:equivalentTo Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculorenocerebellar syndrome -MONDO:0009772 oculorenocerebellar syndrome Orphanet:2715 MONDO:equivalentTo Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculorenocerebellar syndrome -MONDO:0009793 orofaciodigital syndrome III Orphanet:2752 MONDO:equivalentTo Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 3 -MONDO:0009793 orofaciodigital syndrome III Orphanet:2752 MONDO:equivalentTo Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sugarman syndrome -MONDO:0009794 orofaciodigital syndrome IV Orphanet:2753 MONDO:equivalentTo Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym baraitser-burn syndrome -MONDO:0009794 orofaciodigital syndrome IV Orphanet:2753 MONDO:equivalentTo Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mohr-majewski syndrome -MONDO:0009794 orofaciodigital syndrome IV Orphanet:2753 MONDO:equivalentTo Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 4 -MONDO:0009794 orofaciodigital syndrome IV Orphanet:2753 MONDO:equivalentTo Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 4 -MONDO:0009795 orofaciodigital syndrome IX Orphanet:141007 MONDO:equivalentTo Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 9 -MONDO:0009795 orofaciodigital syndrome IX Orphanet:141007 MONDO:equivalentTo Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities -MONDO:0009795 orofaciodigital syndrome IX Orphanet:141007 MONDO:equivalentTo Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome with retinal abnormalities -MONDO:0009796 ornithine aminotransferase deficiency Orphanet:414 MONDO:equivalentTo Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoga -MONDO:0009796 ornithine aminotransferase deficiency Orphanet:414 MONDO:equivalentTo Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperornithinemia -MONDO:0009796 ornithine aminotransferase deficiency Orphanet:414 MONDO:equivalentTo Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperornithinemia-gyrate atrophy of choroid and retina syndrome -MONDO:0009796 ornithine aminotransferase deficiency Orphanet:414 MONDO:equivalentTo Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine aminotransferase deficiency -MONDO:0009796 ornithine aminotransferase deficiency Orphanet:414 MONDO:equivalentTo Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithine aminotransferase deficiency -MONDO:0009797 orotic aciduria Orphanet:30 MONDO:equivalentTo Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orotidylic decarboxylase deficiency -MONDO:0009797 orotic aciduria Orphanet:30 MONDO:equivalentTo Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uridine monophosphate synthetase deficiency -MONDO:0009798 Primrose syndrome Orphanet:3042 MONDO:equivalentTo Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primrose syndrome -MONDO:0009798 Primrose syndrome Orphanet:3042 MONDO:equivalentTo Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-cataracts-calcified pinnae-myopathy syndrome -MONDO:0009798 Primrose syndrome Orphanet:3042 MONDO:equivalentTo Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primrose syndrome -MONDO:0009813 chronic recurrent multifocal osteomyelitis Orphanet:324964 MONDO:equivalentTo Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cno/crmo -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbonic anhydrase 2 deficiency -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guibaud-vainsel syndrome -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym marble brain disease -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed renal tubular acidosis -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mixed rta -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 -MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet:2785 MONDO:equivalentTo Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteopetrosis with renal tubular acidosis -MONDO:0009832 pancreatic agenesis Orphanet:2805 MONDO:equivalentTo Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital pancreatic agenesis -MONDO:0009832 pancreatic agenesis Orphanet:2805 MONDO:equivalentTo Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial agenesis of the pancreas -MONDO:0009832 pancreatic agenesis Orphanet:2805 MONDO:equivalentTo Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial pancreatic agenesis -MONDO:0009835 subacute sclerosing panencephalitis Orphanet:2806 MONDO:equivalentTo Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute inclusion body encephalitis -MONDO:0009835 subacute sclerosing panencephalitis Orphanet:2806 MONDO:equivalentTo Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subacute sclerosing panencephalitis -MONDO:0009835 subacute sclerosing panencephalitis Orphanet:2806 MONDO:equivalentTo Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym van bogaert disease -MONDO:0009835 subacute sclerosing panencephalitis Orphanet:2806 MONDO:equivalentTo Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym van bogaert encephalitis -MONDO:0009835 subacute sclerosing panencephalitis Orphanet:2806 MONDO:equivalentTo Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subacute sclerosing panencephalitis -MONDO:0009837 choroid plexus papilloma Orphanet:2807 MONDO:equivalentTo Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus papilloma -MONDO:0009837 choroid plexus papilloma Orphanet:2807 MONDO:equivalentTo Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus papilloma -MONDO:0009838 Parana hard-skin syndrome Orphanet:2812 MONDO:equivalentTo Parana hard skin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard skin syndrome, parana type -MONDO:0009843 hypomyelinating leukodystrophy 3 Orphanet:280293 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pelizaeus-merzbacher-like disease due to aimp1 mutation -MONDO:0009852 hereditary intrinsic factor deficiency Orphanet:332 MONDO:equivalentTo Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital pernicious anemia -MONDO:0009852 hereditary intrinsic factor deficiency Orphanet:332 MONDO:equivalentTo Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric intrinsic factor deficiency -MONDO:0009852 hereditary intrinsic factor deficiency Orphanet:332 MONDO:equivalentTo Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency -MONDO:0009852 hereditary intrinsic factor deficiency Orphanet:332 MONDO:equivalentTo Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital intrinsic factor deficiency -MONDO:0009853 Imerslund-Grasbeck syndrome Orphanet:35858 MONDO:equivalentTo Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial megaloblastic anemia -MONDO:0009853 Imerslund-Grasbeck syndrome Orphanet:35858 MONDO:equivalentTo Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym selective cobalamin malabsorption with proteinuria -MONDO:0009853 Imerslund-Grasbeck syndrome Orphanet:35858 MONDO:equivalentTo Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label imerslund-gräsbeck syndrome -MONDO:0009857 persistent Mullerian duct syndrome Orphanet:2856 MONDO:equivalentTo Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent müllerian derivatives -MONDO:0009863 BH4-deficient hyperphenylalaninemia A Orphanet:13 MONDO:equivalentTo 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency -MONDO:0009863 BH4-deficient hyperphenylalaninemia A Orphanet:13 MONDO:equivalentTo 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 6-pyruvoyl-tetrahydropterin synthase deficiency -MONDO:0009867 lethal congenital glycogen storage disease of heart Orphanet:439854 MONDO:equivalentTo Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal congenital hypertrophic cardiomyopathy due to glycogenosis -MONDO:0009867 lethal congenital glycogen storage disease of heart Orphanet:439854 MONDO:equivalentTo Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal congenital hypertrophic cardiomyopathy due to gsd -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 9b -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixb -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to liver and muscle phosphorylase kinase deficiency -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9b -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixb -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to liver and muscle phosphorylase kinase deficiency -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9b -MONDO:0009868 glycogen storage disease IXb Orphanet:79240 MONDO:equivalentTo Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixb -MONDO:0009869 isolated Pierre-Robin syndrome Orphanet:718 MONDO:equivalentTo Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated pierre robin sequence -MONDO:0009872 Bjornstad syndrome Orphanet:123 MONDO:equivalentTo Björnstad syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deafness-pili torti-hypogonadism syndrome -MONDO:0009891 acquired polycythemia vera Orphanet:729 MONDO:equivalentTo Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired primary erythrocytosis -MONDO:0009891 acquired polycythemia vera Orphanet:729 MONDO:equivalentTo Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osler-vaquez disease -MONDO:0009891 acquired polycythemia vera Orphanet:729 MONDO:equivalentTo Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycythemia rubra vera -MONDO:0009891 acquired polycythemia vera Orphanet:729 MONDO:equivalentTo Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vaquez disease -MONDO:0009891 acquired polycythemia vera Orphanet:729 MONDO:equivalentTo Polycythemia vera semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polycythemia vera -MONDO:0009892 Chuvash polycythemia Orphanet:238557 MONDO:equivalentTo Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chuvash polycythemia -MONDO:0009892 Chuvash polycythemia Orphanet:238557 MONDO:equivalentTo Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von hippel-lindau-dependent polycythemia -MONDO:0009892 Chuvash polycythemia Orphanet:238557 MONDO:equivalentTo Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chuvash polycythemia -MONDO:0009901 Bartsocas-Papas syndrome 1 Orphanet:1234 MONDO:equivalentTo Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive popliteal pterygium syndrome -MONDO:0009901 Bartsocas-Papas syndrome 1 Orphanet:1234 MONDO:equivalentTo Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lethal popliteal pterygium syndrome -MONDO:0009901 Bartsocas-Papas syndrome 1 Orphanet:1234 MONDO:equivalentTo Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartsocas-papas syndrome -MONDO:0009902 cutaneous porphyria Orphanet:79277 MONDO:equivalentTo Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym günther disease -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency Orphanet:1578 MONDO:equivalentTo Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to dehydratase deficiency -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency Orphanet:1578 MONDO:equivalentTo Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency Orphanet:1578 MONDO:equivalentTo Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia with primapterinuria -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome Orphanet:2975 MONDO:equivalentTo 46,XX difference of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx disorder of sex development-skeletal anomalies syndrome -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Orphanet:752 MONDO:equivalentTo 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase 3 deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Orphanet:752 MONDO:equivalentTo 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Orphanet:752 MONDO:equivalentTo 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Orphanet:752 MONDO:equivalentTo 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Orphanet:752 MONDO:equivalentTo 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 Orphanet:171876 MONDO:equivalentTo Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive pseudohypoaldosteronism type 1 -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 Orphanet:171876 MONDO:equivalentTo Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive pseudohypoaldosteronism type 1 -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Orphanet:753 MONDO:equivalentTo 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Orphanet:753 MONDO:equivalentTo 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd due to 5-alpha-reductase 2 deficiency -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Orphanet:753 MONDO:equivalentTo 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudovaginal perineoscrotal hypospadias -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Orphanet:753 MONDO:equivalentTo 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency -MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet:289157 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet:289157 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudovitamin d-deficient rickets -MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet:289157 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vddr-i -MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet:289157 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d dependent rickets type i -MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet:289157 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d-dependency type i -MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet:289157 MONDO:equivalentTo Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocalcemic vitamin d-dependent rickets -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum Orphanet:758 MONDO:equivalentTo Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gronblad-strandberg-touraine syndrome -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 MONDO:equivalentTo Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 MONDO:equivalentTo Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary vessels -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 MONDO:equivalentTo Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital alveolar capillary dysplasia -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins Orphanet:210122 MONDO:equivalentTo Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins -MONDO:0009937 pulmonary venoocclusive disease Orphanet:199241 MONDO:equivalentTo Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis -MONDO:0009949 pyruvate carboxylase deficiency disease Orphanet:3008 MONDO:equivalentTo Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 -MONDO:0009949 pyruvate carboxylase deficiency disease Orphanet:3008 MONDO:equivalentTo Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with lactic acidosis type ii -MONDO:0009949 pyruvate carboxylase deficiency disease Orphanet:3008 MONDO:equivalentTo Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease Orphanet:3008 MONDO:equivalentTo Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh syndrome due to pc deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease Orphanet:3008 MONDO:equivalentTo Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh syndrome due to pyruvate carboxylase deficiency -MONDO:0009950 pyruvate kinase deficiency of red cells Orphanet:766 MONDO:equivalentTo Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate kinase deficiency of erythrocytes -MONDO:0009950 pyruvate kinase deficiency of red cells Orphanet:766 MONDO:equivalentTo Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemolytic anemia due to red cell pyruvate kinase deficiency -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult refsum disease -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym classic refsum disease -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 4 -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heredopathia atactica polyneuritiformis -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn 4 -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytanic-coa hydroxylase deficiency -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disease -MONDO:0009958 adult Refsum disease Orphanet:773 MONDO:equivalentTo Refsum disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult refsum disease -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly Orphanet:140969 MONDO:equivalentTo Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conorenal syndrome -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly Orphanet:140969 MONDO:equivalentTo Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome -MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly Orphanet:140969 MONDO:equivalentTo Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label saldino-mainzer syndrome -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 Orphanet:540 MONDO:equivalentTo Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hlh -MONDO:0009975 reticulum cell sarcoma Orphanet:86900 MONDO:equivalentTo Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interdigitating cell sarcoma -MONDO:0009975 reticulum cell sarcoma Orphanet:86900 MONDO:equivalentTo Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticulum cell sarcoma -MONDO:0009975 reticulum cell sarcoma Orphanet:86900 MONDO:equivalentTo Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym reticulum cell sarcoma -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Orphanet:3085 MONDO:equivalentTo Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Orphanet:3085 MONDO:equivalentTo Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome -MONDO:0010020 congenital generalized lipodystrophy type 2 Orphanet:528 MONDO:equivalentTo Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berardinelli-seip syndrome -MONDO:0010024 Beemer-Langer syndrome Orphanet:93268 MONDO:equivalentTo Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short rib-polydactyly syndrome type 4 -MONDO:0010029 situs inversus Orphanet:101063 MONDO:equivalentTo Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complete situs inversus -MONDO:0010029 situs inversus Orphanet:101063 MONDO:equivalentTo Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complete situs inversus viscerum -MONDO:0010029 situs inversus Orphanet:101063 MONDO:equivalentTo Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs inversus -MONDO:0010029 situs inversus Orphanet:101063 MONDO:equivalentTo Situs inversus totalis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label situs inversus totalis -MONDO:0010029 situs inversus Orphanet:101063 MONDO:equivalentTo Situs inversus totalis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym situs inversus -MONDO:0010030 Sjogren syndrome Orphanet:289390 MONDO:equivalentTo Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary sjögren-gougerot syndrome -MONDO:0010031 Sjogren-Larsson syndrome Orphanet:816 MONDO:equivalentTo Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatty acid alcohol oxidoreductase deficiency -MONDO:0010041 Charlevoix-Saguenay spastic ataxia Orphanet:98 MONDO:equivalentTo Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 6 -MONDO:0010043 hereditary spastic paraplegia 17 Orphanet:100998 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver syndrome -MONDO:0010043 hereditary spastic paraplegia 17 Orphanet:100998 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia-amyotrophy of hands and feet -MONDO:0010043 hereditary spastic paraplegia 17 Orphanet:100998 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 17 -MONDO:0010044 hereditary spastic paraplegia 15 Orphanet:100996 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary spastic paraparesis type 15 -MONDO:0010044 hereditary spastic paraplegia 15 Orphanet:100996 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kjellin syndrome -MONDO:0010044 hereditary spastic paraplegia 15 Orphanet:100996 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia-retinal degeneration syndrome -MONDO:0010044 hereditary spastic paraplegia 15 Orphanet:100996 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 15 -MONDO:0010046 hereditary spastic paraplegia 23 Orphanet:101003 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lison syndrome -MONDO:0010046 hereditary spastic paraplegia 23 Orphanet:101003 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome -MONDO:0010047 hereditary spastic paraplegia 5A Orphanet:100986 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 5a -MONDO:0010056 spinal muscular atrophy, type IV Orphanet:83420 MONDO:equivalentTo Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type 4 -MONDO:0010056 spinal muscular atrophy, type IV Orphanet:83420 MONDO:equivalentTo Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma type iv -MONDO:0010056 spinal muscular atrophy, type IV Orphanet:83420 MONDO:equivalentTo Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sma-iv -MONDO:0010056 spinal muscular atrophy, type IV Orphanet:83420 MONDO:equivalentTo Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinal muscular atrophy, adult form -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Orphanet:1186 MONDO:equivalentTo Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohaha syndrome -MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Orphanet:1186 MONDO:equivalentTo Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome Orphanet:95433 MONDO:equivalentTo Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 3 -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome Orphanet:95433 MONDO:equivalentTo Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome -MONDO:0010063 corneal-cerebellar syndrome Orphanet:3177 MONDO:equivalentTo Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym der kaloustian-jarudi-khoury syndrome -MONDO:0010063 corneal-cerebellar syndrome Orphanet:3177 MONDO:equivalentTo Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar degeneration-corneal dystrophy syndrome -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type Orphanet:93357 MONDO:equivalentTo SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type Orphanet:93357 MONDO:equivalentTo SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, sponastrime type -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type Orphanet:93357 MONDO:equivalentTo SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sponastrime dysplasia -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type Orphanet:93357 MONDO:equivalentTo SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia, sponastrime type -MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Orphanet:642099 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, beighton type -MONDO:0010078 spondyloperipheral dysplasia Orphanet:1856 MONDO:equivalentTo Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloperipheral dysplasia-short ulna syndrome -MONDO:0010088 mucosulfatidosis Orphanet:585 MONDO:equivalentTo Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile sulfatidosis, austin type -MONDO:0010088 mucosulfatidosis Orphanet:585 MONDO:equivalentTo Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucosulfatidosis -MONDO:0010088 mucosulfatidosis Orphanet:585 MONDO:equivalentTo Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucosulfatidosis -MONDO:0010091 Cold-induced sweating syndrome 1 Orphanet:1545 MONDO:equivalentTo Crisponi syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label crisponi syndrome -MONDO:0010094 spondylocarpotarsal synostosis syndrome Orphanet:3275 MONDO:equivalentTo Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synspondylism -MONDO:0010094 spondylocarpotarsal synostosis syndrome Orphanet:3275 MONDO:equivalentTo Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondylocarpotarsal synostosis -MONDO:0010099 Tay-Sachs disease AB variant Orphanet:309246 MONDO:equivalentTo GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hexosaminidase activator deficiency -MONDO:0010108 testicular germ cell tumor Orphanet:363504 MONDO:equivalentTo Germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular germ cell tumor -MONDO:0010108 testicular germ cell tumor Orphanet:363504 MONDO:equivalentTo Germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germ cell tumor of testis -MONDO:0010108 testicular germ cell tumor Orphanet:363504 MONDO:equivalentTo Germ cell tumor of testis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular germ cell tumor -MONDO:0010148 Mounier-Kuhn syndrome Orphanet:3347 MONDO:equivalentTo Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital tracheobronchomegaly -MONDO:0010148 Mounier-Kuhn syndrome Orphanet:3347 MONDO:equivalentTo Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic tracheobronchomegaly -MONDO:0010148 Mounier-Kuhn syndrome Orphanet:3347 MONDO:equivalentTo Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tracheobronchomegaly -MONDO:0010149 transcobalamin II deficiency Orphanet:859 MONDO:equivalentTo Transcobalamin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited deficiency of transcobalamin -MONDO:0010149 transcobalamin II deficiency Orphanet:859 MONDO:equivalentTo Transcobalamin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transcobalamin ii deficiency -MONDO:0010149 transcobalamin II deficiency Orphanet:859 MONDO:equivalentTo Transcobalamin deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym transcobalamin ii deficiency -MONDO:0010155 Dorfman-Chanarin disease Orphanet:98907 MONDO:equivalentTo Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neutral lipid storage disease with ichthyosis -MONDO:0010155 Dorfman-Chanarin disease Orphanet:98907 MONDO:equivalentTo Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dorfman-chanarin disease -MONDO:0010156 Troyer syndrome Orphanet:101000 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood-onset spastic paraparesis-distal muscle wasting syndrome -MONDO:0010156 Troyer syndrome Orphanet:101000 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym troyer syndrome -MONDO:0010156 Troyer syndrome Orphanet:101000 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 20 -MONDO:0010156 Troyer syndrome Orphanet:101000 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym troyer syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 Orphanet:252202 MONDO:equivalentTo Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmmr-d syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 Orphanet:252202 MONDO:equivalentTo Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constitutional mismatch repair deficiency syndrome -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris-corneal dystrophy syndrome -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculocutaneous tyrosinemia -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richner-hanhart syndrome -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to tat deficiency -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to tyrosine aminotransferase deficiency -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia type ii -MONDO:0010160 tyrosinemia type II Orphanet:28378 MONDO:equivalentTo Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosinemia type ii -MONDO:0010161 tyrosinemia type I Orphanet:882 MONDO:equivalentTo Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fah deficiency -MONDO:0010161 tyrosinemia type I Orphanet:882 MONDO:equivalentTo Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fumarylacetoacetase deficiency -MONDO:0010161 tyrosinemia type I Orphanet:882 MONDO:equivalentTo Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fumarylacetoacetate hydrolase deficiency -MONDO:0010161 tyrosinemia type I Orphanet:882 MONDO:equivalentTo Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal tyrosinemia -MONDO:0010161 tyrosinemia type I Orphanet:882 MONDO:equivalentTo Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia type i -MONDO:0010161 tyrosinemia type I Orphanet:882 MONDO:equivalentTo Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosinemia type i -MONDO:0010162 tyrosinemia type III Orphanet:69723 MONDO:equivalentTo Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency -MONDO:0010162 tyrosinemia type III Orphanet:69723 MONDO:equivalentTo Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency -MONDO:0010162 tyrosinemia type III Orphanet:69723 MONDO:equivalentTo Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia due to hpd deficiency -MONDO:0010162 tyrosinemia type III Orphanet:69723 MONDO:equivalentTo Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosinemia type iii -MONDO:0010162 tyrosinemia type III Orphanet:69723 MONDO:equivalentTo Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosinemia type iii -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Orphanet:247775 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of uterus and vagina -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Orphanet:247775 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 1 -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Orphanet:247775 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rokitansky sequence -MONDO:0010177 vascular hyalinosis Orphanet:3018 MONDO:equivalentTo Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rambaud-gallian syndrome -MONDO:0010177 vascular hyalinosis Orphanet:3018 MONDO:equivalentTo Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rambaud-gallian-touchard syndrome -MONDO:0010177 vascular hyalinosis Orphanet:3018 MONDO:equivalentTo Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF Orphanet:79284 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cblf defect -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF Orphanet:79284 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cobalamin f defect -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF Orphanet:79284 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF Orphanet:79284 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lysosomal membrane cobalamin transporter deficiency -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF Orphanet:79284 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblf -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC Orphanet:79282 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cblc defect -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC Orphanet:79282 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cobalamin c defect -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC Orphanet:79282 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC Orphanet:79282 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cblc -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD Orphanet:79283 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cbld defect -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD Orphanet:79283 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cobalamin d defect -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD Orphanet:79283 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD Orphanet:79283 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria, type cbld -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 Orphanet:98434 MONDO:equivalentTo Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary combined deficiency of factors ii, vii, ix and x -MONDO:0010188 familial isolated deficiency of vitamin E Orphanet:96 MONDO:equivalentTo Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with isolated vitamin e deficiency -MONDO:0010188 familial isolated deficiency of vitamin E Orphanet:96 MONDO:equivalentTo Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial isolated vitamin e deficiency -MONDO:0010188 familial isolated deficiency of vitamin E Orphanet:96 MONDO:equivalentTo Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich-like ataxia -MONDO:0010188 familial isolated deficiency of vitamin E Orphanet:96 MONDO:equivalentTo Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated vitamin e deficiency -MONDO:0010191 von Willebrand disease 3 Orphanet:166096 MONDO:equivalentTo Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease type 3 -MONDO:0010246 developmental and epileptic encephalopathy, 9 Orphanet:101039 MONDO:equivalentTo Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juberg-hellman syndrome -MONDO:0010246 developmental and epileptic encephalopathy, 9 Orphanet:101039 MONDO:equivalentTo Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female restricted epilepsy with intellectual disability -MONDO:0010250 intellectual disability, X-linked 49 Orphanet:485350 MONDO:equivalentTo CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clcn4-related x-linked intellectual disability syndrome -MONDO:0010261 microphthalmia, syndromic 2 Orphanet:2712 MONDO:equivalentTo Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome -MONDO:0010261 microphthalmia, syndromic 2 Orphanet:2712 MONDO:equivalentTo Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome -MONDO:0010261 microphthalmia, syndromic 2 Orphanet:2712 MONDO:equivalentTo Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oculofaciocardiodental syndrome -MONDO:0010264 X-linked adrenal hypoplasia congenita Orphanet:595337 MONDO:equivalentTo Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type Orphanet:83629 MONDO:equivalentTo Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h-smd -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type Orphanet:83629 MONDO:equivalentTo Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypomyelination-spondyloepimetaphyseal dysplasia syndrome -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type Orphanet:83629 MONDO:equivalentTo Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukoencephalopathy-metaphyseal chondrodysplasia syndrome -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type Orphanet:83629 MONDO:equivalentTo Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukoencephalopathy-semd syndrome -MONDO:0010277 syndromic X-linked intellectual disability Shashi type Orphanet:85286 MONDO:equivalentTo X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic x-linked intellectual disability type 11 -MONDO:0010281 Danon disease Orphanet:34587 MONDO:equivalentTo Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym danon disease -MONDO:0010281 Danon disease Orphanet:34587 MONDO:equivalentTo Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to lamp-2 deficiency -MONDO:0010281 Danon disease Orphanet:34587 MONDO:equivalentTo Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to lamp-2 deficiency -MONDO:0010281 Danon disease Orphanet:34587 MONDO:equivalentTo Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lysosomal glycogen storage disease with normal acid maltase activity -MONDO:0010281 Danon disease Orphanet:34587 MONDO:equivalentTo Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym danon disease -MONDO:0010283 syndromic X-linked intellectual disability Lubs type Orphanet:1762 MONDO:equivalentTo Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mecp2 duplication syndrome -MONDO:0010284 Armfield syndrome Orphanet:85276 MONDO:equivalentTo X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym armfield syndrome -MONDO:0010284 Armfield syndrome Orphanet:85276 MONDO:equivalentTo X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability, armfield type -MONDO:0010284 Armfield syndrome Orphanet:85276 MONDO:equivalentTo X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym armfield syndrome -MONDO:0010287 hereditary spastic paraplegia 16 Orphanet:100997 MONDO:equivalentTo X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spastic paraplegia type 16 -MONDO:0010293 ectodermal dysplasia and immune deficiency Orphanet:98813 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anhidrotic ectodermal dysplasia with immunodeficiency -MONDO:0010293 ectodermal dysplasia and immune deficiency Orphanet:98813 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eda-id -MONDO:0010293 ectodermal dysplasia and immune deficiency Orphanet:98813 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hed-id -MONDO:0010293 ectodermal dysplasia and immune deficiency Orphanet:98813 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypohidrotic ectodermal dysplasia with immunodeficiency -MONDO:0010305 creatine transporter deficiency Orphanet:52503 MONDO:equivalentTo X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym creatine transporter deficiency -MONDO:0010305 creatine transporter deficiency Orphanet:52503 MONDO:equivalentTo X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slc6a8 deficiency -MONDO:0010305 creatine transporter deficiency Orphanet:52503 MONDO:equivalentTo X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym creatine transporter deficiency -MONDO:0010310 osteopathia striata with cranial sclerosis Orphanet:2780 MONDO:equivalentTo Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis generalisata with striations -MONDO:0010310 osteopathia striata with cranial sclerosis Orphanet:2780 MONDO:equivalentTo Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow-unger syndrome -MONDO:0010327 HSD10 mitochondrial disease Orphanet:391417 MONDO:equivalentTo HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric aciduria -MONDO:0010327 HSD10 mitochondrial disease Orphanet:391417 MONDO:equivalentTo HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency -MONDO:0010327 HSD10 mitochondrial disease Orphanet:391417 MONDO:equivalentTo HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hsd10 deficiency -MONDO:0010327 HSD10 mitochondrial disease Orphanet:391417 MONDO:equivalentTo HSD10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mhbd deficiency -MONDO:0010336 orofaciodigital syndrome VIII Orphanet:2755 MONDO:equivalentTo Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 8 -MONDO:0010336 orofaciodigital syndrome VIII Orphanet:2755 MONDO:equivalentTo Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome, edwards type -MONDO:0010336 orofaciodigital syndrome VIII Orphanet:2755 MONDO:equivalentTo Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome, edwards type -MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders Orphanet:85294 MONDO:equivalentTo X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked epilepsy-learning disabilities-behavior disorders syndrome -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome Orphanet:85321 MONDO:equivalentTo Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym martin-probst syndrome -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome Orphanet:85321 MONDO:equivalentTo Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked deafness-intellectual disability syndrome syndrome -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 9d -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixd -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to muscle phosphorylase kinase deficiency -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9d -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixd -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to muscle phosphorylase kinase deficiency -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9d -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixd -MONDO:0010362 glycogen storage disease IXd Orphanet:715 MONDO:equivalentTo Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disease due to muscle phosphorylase kinase deficiency -MONDO:0010371 Aland island eye disease Orphanet:178333 MONDO:equivalentTo Åland Islands eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forsius-eriksson syndrome -MONDO:0010371 Aland island eye disease Orphanet:178333 MONDO:equivalentTo Åland Islands eye disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym forsius-eriksson type ocular albinism -MONDO:0010375 developmental and epileptic encephalopathy, 8 Orphanet:163985 MONDO:equivalentTo Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperekplexia-epilepsy syndrome -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss Orphanet:139583 MONDO:equivalentTo X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss Orphanet:139583 MONDO:equivalentTo X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hereditary sensory and autonomic neuropathy with hearing loss -MONDO:0010379 Brunner syndrome Orphanet:3057 MONDO:equivalentTo Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brunner syndrome -MONDO:0010379 Brunner syndrome Orphanet:3057 MONDO:equivalentTo Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monoamine oxidase a deficiency -MONDO:0010379 Brunner syndrome Orphanet:3057 MONDO:equivalentTo Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brunner syndrome -MONDO:0010399 chromosome Xp21 deletion syndrome Orphanet:261476 MONDO:equivalentTo Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex glycerol kinase deficiency -MONDO:0010399 chromosome Xp21 deletion syndrome Orphanet:261476 MONDO:equivalentTo Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(x)(p21) -MONDO:0010399 chromosome Xp21 deletion syndrome Orphanet:261476 MONDO:equivalentTo Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xp21 contiguous gene deletion syndrome -MONDO:0010399 chromosome Xp21 deletion syndrome Orphanet:261476 MONDO:equivalentTo Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xp21 microdeletion syndrome -MONDO:0010403 albinism-hearing loss syndrome Orphanet:998 MONDO:equivalentTo Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym albinism-hearing loss syndrome -MONDO:0010417 syndromic X-linked intellectual disability Najm type Orphanet:163937 MONDO:equivalentTo X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome -MONDO:0010418 hereditary spastic paraplegia 34 Orphanet:171607 MONDO:equivalentTo X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spastic paraplegia type 34 -MONDO:0010421 Bruton-type agammaglobulinemia Orphanet:47 MONDO:equivalentTo X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bruton type agammaglobulinemia -MONDO:0010421 Bruton-type agammaglobulinemia Orphanet:47 MONDO:equivalentTo X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym btk-deficiency -MONDO:0010421 Bruton-type agammaglobulinemia Orphanet:47 MONDO:equivalentTo X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked agammaglobulinemia -MONDO:0010460 syndromic X-linked intellectual disability 17 Orphanet:289483 MONDO:equivalentTo Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-alacrima-achalasia syndrome -MONDO:0010461 syndromic X-linked intellectual disability Nascimento type Orphanet:163956 MONDO:equivalentTo X-linked intellectual disability, Nascimento type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked intellectual disability-nail dystrophy-seizures syndrome -MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome Orphanet:163961 MONDO:equivalentTo X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked intellectual disability, kroes type -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 Orphanet:300496 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcahs type 2 -MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 Orphanet:300496 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome type 2 -MONDO:0010472 developmental and epileptic encephalopathy, 36 Orphanet:324422 MONDO:equivalentTo ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type is -MONDO:0010472 developmental and epileptic encephalopathy, 36 Orphanet:324422 MONDO:equivalentTo ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-is -MONDO:0010472 developmental and epileptic encephalopathy, 36 Orphanet:324422 MONDO:equivalentTo ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1s -MONDO:0010472 developmental and epileptic encephalopathy, 36 Orphanet:324422 MONDO:equivalentTo ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type is -MONDO:0010472 developmental and epileptic encephalopathy, 36 Orphanet:324422 MONDO:equivalentTo ALG13-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alg13-cdg -MONDO:0010476 neurodegeneration with brain iron accumulation 5 Orphanet:329284 MONDO:equivalentTo Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 5 -MONDO:0010476 neurodegeneration with brain iron accumulation 5 Orphanet:329284 MONDO:equivalentTo Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood -MONDO:0010476 neurodegeneration with brain iron accumulation 5 Orphanet:329284 MONDO:equivalentTo Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label beta-propeller protein-associated neurodegeneration -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type Orphanet:293707 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type Orphanet:293707 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, maat-kievit-brunner type -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type Orphanet:293707 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, mkb type -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type Orphanet:293707 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked ohdo syndrome -MONDO:0010478 SLC35A2-congenital disorder of glycosylation Orphanet:356961 MONDO:equivalentTo SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iim -MONDO:0010478 SLC35A2-congenital disorder of glycosylation Orphanet:356961 MONDO:equivalentTo SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iim -MONDO:0010478 SLC35A2-congenital disorder of glycosylation Orphanet:356961 MONDO:equivalentTo SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2m -MONDO:0010478 SLC35A2-congenital disorder of glycosylation Orphanet:356961 MONDO:equivalentTo SLC35A2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iim -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 Orphanet:352675 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 6 -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency Orphanet:466026 MONDO:equivalentTo Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym class i g6pd deficiency -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency Orphanet:466026 MONDO:equivalentTo Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe hemolytic anemia due to g6pd deficiency -MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency Orphanet:466026 MONDO:equivalentTo Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label class i glucose-6-phosphate dehydrogenase deficiency -MONDO:0010490 SSR4-congenital disorder of glycosylation Orphanet:370927 MONDO:equivalentTo SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iy -MONDO:0010490 SSR4-congenital disorder of glycosylation Orphanet:370927 MONDO:equivalentTo SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iy -MONDO:0010490 SSR4-congenital disorder of glycosylation Orphanet:370927 MONDO:equivalentTo SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iy -MONDO:0010490 SSR4-congenital disorder of glycosylation Orphanet:370927 MONDO:equivalentTo SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y -MONDO:0010490 SSR4-congenital disorder of glycosylation Orphanet:370927 MONDO:equivalentTo SSR4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iy -MONDO:0010501 syndromic X-linked intellectual disability 34 Orphanet:466791 MONDO:equivalentTo Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrocephaly-intellectual disability-left ventricular non compaction syndrome -MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meester-loeys syndrome -MONDO:0010515 Meester-Loeys syndrome Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meester-loeys syndrome -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome Orphanet:847 MONDO:equivalentTo Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atr-x syndrome -MONDO:0010524 X-linked sideroblastic anemia with ataxia Orphanet:2802 MONDO:equivalentTo X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagon-bird-detter syndrome -MONDO:0010524 X-linked sideroblastic anemia with ataxia Orphanet:2802 MONDO:equivalentTo X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked sideroblastic anemia with ataxia -MONDO:0010524 X-linked sideroblastic anemia with ataxia Orphanet:2802 MONDO:equivalentTo X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlsa-a -MONDO:0010524 X-linked sideroblastic anemia with ataxia Orphanet:2802 MONDO:equivalentTo X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked sideroblastic anemia with ataxia -MONDO:0010533 Arts syndrome Orphanet:1187 MONDO:equivalentTo Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arts syndrome -MONDO:0010533 Arts syndrome Orphanet:1187 MONDO:equivalentTo Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal ataxia with deafness and optic atrophy -MONDO:0010533 Arts syndrome Orphanet:1187 MONDO:equivalentTo Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arts syndrome -MONDO:0010535 Bazex-Dupre-Christol syndrome Orphanet:113 MONDO:equivalentTo Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym follicular atrophoderma and basal cell carcinomas -MONDO:0010535 Bazex-Dupre-Christol syndrome Orphanet:113 MONDO:equivalentTo Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bazex-dupré-christol syndrome -MONDO:0010535 Bazex-Dupre-Christol syndrome Orphanet:166113 MONDO:equivalentTo Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrokeratosis of bazex -MONDO:0010535 Bazex-Dupre-Christol syndrome Orphanet:166113 MONDO:equivalentTo Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrokeratosis paraneoplastica -MONDO:0010535 Bazex-Dupre-Christol syndrome Orphanet:166113 MONDO:equivalentTo Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acrokeratosis paraneoplastica of bazex -MONDO:0010535 Bazex-Dupre-Christol syndrome Orphanet:166113 MONDO:equivalentTo Bazex syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bazex syndrome -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 Orphanet:101075 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 1 -MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 Orphanet:101076 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 2 -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 Orphanet:101077 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 3 -MONDO:0010555 X-linked chondrodysplasia punctata 1 Orphanet:79345 MONDO:equivalentTo Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brachytelephalangic chondrodysplasia punctata -MONDO:0010556 X-linked chondrodysplasia punctata Orphanet:35173 MONDO:equivalentTo X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophia calcificans congenita -MONDO:0010558 choroideremia-deafness-obesity syndrome Orphanet:1435 MONDO:equivalentTo Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ayazi syndrome -MONDO:0010560 cleft palate with or without ankyloglossia, X-linked Orphanet:324601 MONDO:equivalentTo X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked cleft palate and ankyloglossia -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical x-linked achromatopsia -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blue cone monochromacy -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym color blindness, blue monocone monochromatic type -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym s cone monochromacy -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym s cone monochromatism -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked incomplete achromatopsia -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blue cone monochromatism -MONDO:0010563 blue cone monochromacy Orphanet:16 MONDO:equivalentTo Blue cone monochromatism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blue cone monochromacy -MONDO:0010570 craniofrontonasal syndrome Orphanet:1520 MONDO:equivalentTo Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniofrontonasal syndrome -MONDO:0010570 craniofrontonasal syndrome Orphanet:1520 MONDO:equivalentTo Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofrontonasal dysplasia -MONDO:0010570 craniofrontonasal syndrome Orphanet:1520 MONDO:equivalentTo Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym craniofrontonasal syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 Orphanet:1568 MONDO:equivalentTo X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 Orphanet:1568 MONDO:equivalentTo X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 Orphanet:85329 MONDO:equivalentTo X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome -MONDO:0010578 deafness dystonia syndrome Orphanet:52368 MONDO:equivalentTo Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ddon syndrome -MONDO:0010578 deafness dystonia syndrome Orphanet:52368 MONDO:equivalentTo Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deafness-dystonia-optic neuronopathy syndrome -MONDO:0010578 deafness dystonia syndrome Orphanet:52368 MONDO:equivalentTo Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mohr-tranebjaerg syndrome -MONDO:0010598 glycogen storage disease IXa1 Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 9a -MONDO:0010598 glycogen storage disease IXa1 Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixa -MONDO:0010598 glycogen storage disease IXa1 Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9a -MONDO:0010598 glycogen storage disease IXa1 Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixa -MONDO:0010598 glycogen storage disease IXa1 Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a -MONDO:0010598 glycogen storage disease IXa1 Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa -MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome Orphanet:2570 MONDO:equivalentTo Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morse-rawnsley-sargent syndrome -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet:2182 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bickers-adams syndrome -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet:2182 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked acqueductal stenosis -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet:2182 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hsas -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet:2182 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hydrocephalus -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet:2182 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hydrocephalus with stenosis of aqueduct of sylvius -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet:2182 MONDO:equivalentTo Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hydrocephalus with stenosis of the aqueduct of sylvius -MONDO:0010613 inborn glycerol kinase deficiency Orphanet:308993 MONDO:equivalentTo Glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycerol kinase deficiency -MONDO:0010626 hyper-IgM syndrome type 1 Orphanet:101088 MONDO:equivalentTo X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-igm syndrome due to cd40 ligand deficiency -MONDO:0010626 hyper-IgM syndrome type 1 Orphanet:101088 MONDO:equivalentTo X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-igm syndrome due to cd40l deficiency -MONDO:0010626 hyper-IgM syndrome type 1 Orphanet:101088 MONDO:equivalentTo X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-igm syndrome type 1 -MONDO:0010626 hyper-IgM syndrome type 1 Orphanet:101088 MONDO:equivalentTo X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked hyper-igm syndrome -MONDO:0010626 hyper-IgM syndrome type 1 Orphanet:101088 MONDO:equivalentTo X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyper-igm syndrome type 1 -MONDO:0010627 X-linked lymphoproliferative syndrome Orphanet:2442 MONDO:equivalentTo X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disease -MONDO:0010627 X-linked lymphoproliferative syndrome Orphanet:2442 MONDO:equivalentTo X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome Orphanet:1018 MONDO:equivalentTo X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xq22.3 microdeletion syndrome -MONDO:0010645 oculocerebrorenal syndrome Orphanet:534 MONDO:equivalentTo Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lowe disease -MONDO:0010645 oculocerebrorenal syndrome Orphanet:534 MONDO:equivalentTo Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lowe oculo-cerebro-renal syndrome -MONDO:0010645 oculocerebrorenal syndrome Orphanet:534 MONDO:equivalentTo Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lowe syndrome -MONDO:0010645 oculocerebrorenal syndrome Orphanet:534 MONDO:equivalentTo Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency -MONDO:0010645 oculocerebrorenal syndrome Orphanet:534 MONDO:equivalentTo Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oculocerebrorenal syndrome of lowe -MONDO:0010655 X-linked intellectual disability with marfanoid habitus Orphanet:776 MONDO:equivalentTo Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lujan-fryns syndrome -MONDO:0010655 X-linked intellectual disability with marfanoid habitus Orphanet:776 MONDO:equivalentTo Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability with marfanoid habitus -MONDO:0010658 syndromic X-linked intellectual disability 12 Orphanet:85290 MONDO:equivalentTo X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability, wilson type -MONDO:0010664 syndromic X-linked intellectual disability Snyder type Orphanet:3063 MONDO:equivalentTo X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym snyder-robinson syndrome -MONDO:0010667 Prieto syndrome Orphanet:2958 MONDO:equivalentTo X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prieto-badia-mulas syndrome -MONDO:0010667 Prieto syndrome Orphanet:2958 MONDO:equivalentTo X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome Orphanet:1436 MONDO:equivalentTo X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christian syndrome -MONDO:0010671 microphthalmia, syndromic 1 Orphanet:85275 MONDO:equivalentTo Microphthalmia-ankyloblepharon-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 4 -MONDO:0010672 linear skin defects with multiple congenital anomalies Orphanet:2556 MONDO:equivalentTo Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia-dermal aplasia-sclerocornea syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies Orphanet:2556 MONDO:equivalentTo Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies Orphanet:2556 MONDO:equivalentTo Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mls syndrome -MONDO:0010672 linear skin defects with multiple congenital anomalies Orphanet:2556 MONDO:equivalentTo Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 7 -MONDO:0010672 linear skin defects with multiple congenital anomalies Orphanet:2556 MONDO:equivalentTo Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microphthalmia with linear skin defects syndrome -MONDO:0010674 mucopolysaccharidosis type 2 Orphanet:79388 MONDO:equivalentTo Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mps with skin involvement -MONDO:0010674 mucopolysaccharidosis type 2 Orphanet:79388 MONDO:equivalentTo Mucopolysaccharidosis with skin involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucopolysaccharidosis with skin involvement -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 Orphanet:101078 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cowchock syndrome -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 Orphanet:101078 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 4 -MONDO:0010698 optic atrophy 2 Orphanet:98890 MONDO:equivalentTo Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-leber type optic atrophy with early-onset -MONDO:0010698 optic atrophy 2 Orphanet:98890 MONDO:equivalentTo Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy type 2 -MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 Orphanet:99014 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked charcot-marie-tooth disease type 5 -MONDO:0010702 orofaciodigital syndrome I Orphanet:2750 MONDO:equivalentTo Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 1 -MONDO:0010702 orofaciodigital syndrome I Orphanet:2750 MONDO:equivalentTo Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillon-léage-psaume syndrome -MONDO:0010702 orofaciodigital syndrome I Orphanet:2750 MONDO:equivalentTo Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 1 -MONDO:0010703 ornithine carbamoyltransferase deficiency Orphanet:664 MONDO:equivalentTo Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oct deficiency -MONDO:0010703 ornithine carbamoyltransferase deficiency Orphanet:664 MONDO:equivalentTo Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ornithine carbamoyltransferase deficiency -MONDO:0010703 ornithine carbamoyltransferase deficiency Orphanet:664 MONDO:equivalentTo Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym otc deficiency -MONDO:0010703 ornithine carbamoyltransferase deficiency Orphanet:664 MONDO:equivalentTo Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ornithine transcarbamylase deficiency -MONDO:0010703 ornithine carbamoyltransferase deficiency Orphanet:664 MONDO:equivalentTo Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithine carbamoyltransferase deficiency -MONDO:0010706 premature ovarian failure 1 Orphanet:642691 MONDO:equivalentTo Fragile X-associated primary ovarian insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fragile x-associated primary ovarian insufficiency -MONDO:0010708 Pallister-W syndrome Orphanet:2804 MONDO:equivalentTo W syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallister-w syndrome -MONDO:0010708 Pallister-W syndrome Orphanet:2804 MONDO:equivalentTo W syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label w syndrome -MONDO:0010708 Pallister-W syndrome Orphanet:2804 MONDO:equivalentTo W syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pallister-w syndrome -MONDO:0010733 hereditary spastic paraplegia 2 Orphanet:99015 MONDO:equivalentTo Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic gait type 2 -MONDO:0010733 hereditary spastic paraplegia 2 Orphanet:99015 MONDO:equivalentTo Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis type 2 -MONDO:0010733 hereditary spastic paraplegia 2 Orphanet:99015 MONDO:equivalentTo Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked spastic paraplegia type 2 -MONDO:0010733 hereditary spastic paraplegia 2 Orphanet:99015 MONDO:equivalentTo Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 2 -MONDO:0010743 thrombocytopenia 1 Orphanet:852 MONDO:equivalentTo X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked thrombocytopenia with normal platelets -MONDO:0010758 Wieacker-Wolff syndrome Orphanet:3454 MONDO:equivalentTo Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foot contractures-muscle atrophy-oculomotor apraxia syndrome -MONDO:0010758 Wieacker-Wolff syndrome Orphanet:3454 MONDO:equivalentTo Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wieacker-wolff syndrome -MONDO:0010758 Wieacker-Wolff syndrome Orphanet:3454 MONDO:equivalentTo Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-developmental delay-contractures syndrome -MONDO:0010758 Wieacker-Wolff syndrome Orphanet:3454 MONDO:equivalentTo Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wieacker-wolff syndrome -MONDO:0010758 Wieacker-Wolff syndrome Orphanet:85283 MONDO:equivalentTo X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked intellectual disability, miles-carpenter type -MONDO:0010773 mitochondrial myopathy with diabetes Orphanet:2596 MONDO:equivalentTo Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy and diabetes mellitus -MONDO:0010775 retinitis pigmentosa-deafness syndrome Orphanet:886 MONDO:equivalentTo Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0010775 retinitis pigmentosa-deafness syndrome Orphanet:886 MONDO:equivalentTo Usher syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss Orphanet:90641 MONDO:equivalentTo Rare mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mitochondrial non-syndromic sensorineural hearing loss -MONDO:0010789 MELAS syndrome Orphanet:550 MONDO:equivalentTo MELAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes -MONDO:0010789 MELAS syndrome Orphanet:550 MONDO:equivalentTo MELAS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes -MONDO:0010790 MERRF syndrome Orphanet:551 MONDO:equivalentTo MERRF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fukuhara syndrome -MONDO:0010790 MERRF syndrome Orphanet:551 MONDO:equivalentTo MERRF semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus epilepsy associated with ragged-red fibres -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome Orphanet:1422 MONDO:equivalentTo Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia-disorder of sex development syndrome -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome Orphanet:1422 MONDO:equivalentTo Chondrodysplasia-difference of sex development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nivelon-nivelon-mabille syndrome -MONDO:0010816 Qazi Markouizos syndrome Orphanet:3010 MONDO:equivalentTo Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysharmonic skeletal maturation-muscular fiber disproportion syndrome -MONDO:0010816 Qazi Markouizos syndrome Orphanet:3010 MONDO:equivalentTo Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label qazi-markouizos syndrome -MONDO:0010824 disorder of sex development-intellectual disability syndrome Orphanet:2983 MONDO:equivalentTo Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym verloes-gillerot-fryns syndrome -MONDO:0010824 disorder of sex development-intellectual disability syndrome Orphanet:2983 MONDO:equivalentTo Difference of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym disorder of sex development-intellectual disability syndrome -MONDO:0010829 CARASIL syndrome Orphanet:199354 MONDO:equivalentTo Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maeda syndrome -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 Orphanet:1216 MONDO:equivalentTo Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant benign distal spinal muscular atrophy -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 Orphanet:1216 MONDO:equivalentTo Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital benign spinal muscular atrophy with contractures -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 Orphanet:1216 MONDO:equivalentTo Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital nonprogressive spinal muscular atrophy -MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 Orphanet:1216 MONDO:equivalentTo Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant congenital benign spinal muscular atrophy -MONDO:0010842 multiple cutaneous and mucosal venous malformations Orphanet:2451 MONDO:equivalentTo Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous and mucosal venous malformation -MONDO:0010877 Charcot-Marie-Tooth disease type 5 Orphanet:64751 MONDO:equivalentTo Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease-pyramidal features syndrome -MONDO:0010877 Charcot-Marie-Tooth disease type 5 Orphanet:64751 MONDO:equivalentTo Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn 5 -MONDO:0010877 Charcot-Marie-Tooth disease type 5 Orphanet:64751 MONDO:equivalentTo Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary motor and sensory neuropathy type 5 -MONDO:0010878 hereditary spastic paraplegia 6 Orphanet:100988 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 6 -MONDO:0010911 prolactin-producing pituitary gland adenoma Orphanet:2965 MONDO:equivalentTo Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lactotroph adenoma -MONDO:0010911 prolactin-producing pituitary gland adenoma Orphanet:2965 MONDO:equivalentTo Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary lactotrophic adenoma -MONDO:0010911 prolactin-producing pituitary gland adenoma Orphanet:2965 MONDO:equivalentTo Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prl-secreting pituitary adenoma -MONDO:0010911 prolactin-producing pituitary gland adenoma Orphanet:2965 MONDO:equivalentTo Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prloma -MONDO:0010911 prolactin-producing pituitary gland adenoma Orphanet:2965 MONDO:equivalentTo Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prolactin-secreting pituitary adenoma -MONDO:0010911 prolactin-producing pituitary gland adenoma Orphanet:2965 MONDO:equivalentTo Prolactinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prolactinoma -MONDO:0010926 familial hypocalciuric hypercalcemia 3 Orphanet:101050 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhh type 3 -MONDO:0010926 familial hypocalciuric hypercalcemia 3 Orphanet:101050 MONDO:equivalentTo Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypocalciuric hypercalcemia type 3 -MONDO:0010949 Charcot-Marie-Tooth disease type 2B Orphanet:99936 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2b -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts Orphanet:163 MONDO:equivalentTo Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bonneau-beaumont syndrome -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts Orphanet:163 MONDO:equivalentTo Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary hyperferritinemia-cataract syndrome -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts Orphanet:163 MONDO:equivalentTo Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary hyperferritinemia with congenital cataracts -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma Orphanet:2337 MONDO:equivalentTo Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar keratoderma, bothnian type -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma Orphanet:2337 MONDO:equivalentTo Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma Orphanet:530838 MONDO:equivalentTo KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label krt1-related diffuse nonepidermolytic keratoderma -MONDO:0010966 achondrogenesis type IB Orphanet:93298 MONDO:equivalentTo Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym achondrogenesis, parenti-fraccaro type -MONDO:0010983 dystonia 9 Orphanet:53583 MONDO:equivalentTo Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym episodic choreoathetosis/spasticity -MONDO:0010997 supranuclear palsy, progressive, 1 Orphanet:240071 MONDO:equivalentTo Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym classic psp syndrome -MONDO:0010997 supranuclear palsy, progressive, 1 Orphanet:240071 MONDO:equivalentTo Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym richardson syndrome -MONDO:0010997 supranuclear palsy, progressive, 1 Orphanet:240071 MONDO:equivalentTo Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steele-richardson-olszewski disease -MONDO:0010997 supranuclear palsy, progressive, 1 Orphanet:240071 MONDO:equivalentTo Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic progressive supranuclear palsy syndrome -MONDO:0010998 ALG3-congenital disorder of glycosylation Orphanet:79321 MONDO:equivalentTo ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type id -MONDO:0010998 ALG3-congenital disorder of glycosylation Orphanet:79321 MONDO:equivalentTo ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type id -MONDO:0010998 ALG3-congenital disorder of glycosylation Orphanet:79321 MONDO:equivalentTo ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-id -MONDO:0010998 ALG3-congenital disorder of glycosylation Orphanet:79321 MONDO:equivalentTo ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1d -MONDO:0010998 ALG3-congenital disorder of glycosylation Orphanet:79321 MONDO:equivalentTo ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type id -MONDO:0010998 ALG3-congenital disorder of glycosylation Orphanet:79321 MONDO:equivalentTo ALG3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 6 deficiency -MONDO:0011006 hereditary spastic paraplegia 9A Orphanet:447753 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad-spg9a -MONDO:0011012 African iron overload Orphanet:139507 MONDO:equivalentTo Dietary iron overload disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym african iron overload -MONDO:0011012 African iron overload Orphanet:139507 MONDO:equivalentTo Dietary iron overload disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bantu siderosis -MONDO:0011012 African iron overload Orphanet:139507 MONDO:equivalentTo Dietary iron overload disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym african iron overload -MONDO:0011025 Cayman type cerebellar ataxia Orphanet:94122 MONDO:equivalentTo Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cayman ataxia -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F Orphanet:219 MONDO:equivalentTo Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F Orphanet:219 MONDO:equivalentTo Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2f -MONDO:0011049 Fine-Lubinsky syndrome Orphanet:1272 MONDO:equivalentTo Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephaly-deafness-cataract-intellectual disability syndrome -MONDO:0011049 Fine-Lubinsky syndrome Orphanet:1272 MONDO:equivalentTo Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fine-lubinsky syndrome -MONDO:0011049 Fine-Lubinsky syndrome Orphanet:1272 MONDO:equivalentTo Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fine-lubinsky syndrome -MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type Orphanet:646136 MONDO:equivalentTo Dysplastic cortical hyperostosis, Al-Gazali type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysplastic cortical hyperostosis, al-gazali type -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome Orphanet:3051 MONDO:equivalentTo Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-sparse hair-brachydactyly syndrome -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome Orphanet:3051 MONDO:equivalentTo Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nicolaides-baraitser syndrome -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome Orphanet:3051 MONDO:equivalentTo Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual disability-sparse hair-brachydactyly syndrome -MONDO:0011055 distal monosomy 10p Orphanet:1580 MONDO:equivalentTo Distal deletion 10p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10pter -MONDO:0011055 distal monosomy 10p Orphanet:1580 MONDO:equivalentTo Distal deletion 10p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 10p -MONDO:0011055 distal monosomy 10p Orphanet:1580 MONDO:equivalentTo Distal deletion 10p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 10p -MONDO:0011076 myofibrillar myopathy 1 Orphanet:98909 MONDO:equivalentTo Desminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desmin-related myofibrillar myopathy -MONDO:0011076 myofibrillar myopathy 1 Orphanet:98909 MONDO:equivalentTo Desminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label desminopathy -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Orphanet:331206 MONDO:equivalentTo Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to complete rag1/2 deficiency -MONDO:0011091 Charcot-Marie-Tooth disease type 2D Orphanet:99938 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2d -MONDO:0011093 mucopolysaccharidosis type 9 Orphanet:67041 MONDO:equivalentTo Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type 9 -MONDO:0011093 mucopolysaccharidosis type 9 Orphanet:67041 MONDO:equivalentTo Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucopolysaccharidosis type ix -MONDO:0011093 mucopolysaccharidosis type 9 Orphanet:67041 MONDO:equivalentTo Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucopolysaccharidosis type 9 -MONDO:0011099 human HOXA1 syndromes Orphanet:69739 MONDO:equivalentTo Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym athabascan brainstem dysgenesis syndrome -MONDO:0011099 human HOXA1 syndromes Orphanet:69739 MONDO:equivalentTo Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym navajo brainstem syndrome -MONDO:0011099 human HOXA1 syndromes Orphanet:69739 MONDO:equivalentTo Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label athabaskan brainstem dysgenesis syndrome -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy Orphanet:1573 MONDO:equivalentTo Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hjmd -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy Orphanet:1573 MONDO:equivalentTo Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis with juvenile macular dystrophy -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Orphanet:169095 MONDO:equivalentTo Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alymphoid cystic thymic dysgenesis -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Orphanet:169095 MONDO:equivalentTo Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy Orphanet:169095 MONDO:equivalentTo Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym winged helix deficiency -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type Orphanet:2953 MONDO:equivalentTo Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type Orphanet:2953 MONDO:equivalentTo Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome, kosho type -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type Orphanet:2953 MONDO:equivalentTo Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label musculocontractural ehlers-danlos syndrome -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:1600 MONDO:equivalentTo Monosomy 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18q deletion syndrome -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:1600 MONDO:equivalentTo Monosomy 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 18q -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:1600 MONDO:equivalentTo Monosomy 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy 18q -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:262146 MONDO:equivalentTo Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 18q -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:262146 MONDO:equivalentTo Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 18q -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:262146 MONDO:equivalentTo Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the long arm of chromosome 18 -MONDO:0011147 chromosome 18q deletion syndrome Orphanet:262146 MONDO:equivalentTo Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 18 -MONDO:0011157 Gomez-Lopez-Hernandez syndrome Orphanet:1532 MONDO:equivalentTo Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellotrigeminal-dermal dysplasia syndrome -MONDO:0011157 Gomez-Lopez-Hernandez syndrome Orphanet:1532 MONDO:equivalentTo Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniosynostosis-alopecia-brain defect syndrome -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G Orphanet:34514 MONDO:equivalentTo Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to telethonin deficiency -MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G Orphanet:34514 MONDO:equivalentTo Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2g -MONDO:0011176 intestinal hypomagnesemia 1 Orphanet:30924 MONDO:equivalentTo Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypomagnesemia caused by selective magnesium malabsorption -MONDO:0011176 intestinal hypomagnesemia 1 Orphanet:30924 MONDO:equivalentTo Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypomagnesemia intestinal type 1 -MONDO:0011176 intestinal hypomagnesemia 1 Orphanet:30924 MONDO:equivalentTo Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal hypomagnesemia with secondary hypocalcemia -MONDO:0011176 intestinal hypomagnesemia 1 Orphanet:30924 MONDO:equivalentTo Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hypomagnesemia with secondary hypocalcemia -MONDO:0011184 childhood apraxia of speech Orphanet:209908 MONDO:equivalentTo Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech and language disorder with orofacial dyspraxia -MONDO:0011184 childhood apraxia of speech Orphanet:209908 MONDO:equivalentTo Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speech-language disorder type 1 -MONDO:0011218 autosomal recessive congenital ichthyosis 11 Orphanet:91132 MONDO:equivalentTo Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis-congenital ichthyosis syndrome -MONDO:0011218 autosomal recessive congenital ichthyosis 11 Orphanet:91132 MONDO:equivalentTo Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis-follicular atrophoderma-hypotrichosis syndrome -MONDO:0011218 autosomal recessive congenital ichthyosis 11 Orphanet:91132 MONDO:equivalentTo Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome -MONDO:0011218 autosomal recessive congenital ichthyosis 11 Orphanet:91132 MONDO:equivalentTo Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ifah syndrome -MONDO:0011218 autosomal recessive congenital ichthyosis 11 Orphanet:91132 MONDO:equivalentTo Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis-hypotrichosis syndrome -MONDO:0011246 megaconial type congenital muscular dystrophy Orphanet:280671 MONDO:equivalentTo Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital megaconial myopathy -MONDO:0011246 megaconial type congenital muscular dystrophy Orphanet:280671 MONDO:equivalentTo Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect -MONDO:0011246 megaconial type congenital muscular dystrophy Orphanet:280671 MONDO:equivalentTo Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy with mitochondrial structural abnormalities -MONDO:0011246 megaconial type congenital muscular dystrophy Orphanet:280671 MONDO:equivalentTo Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megaconial congenital muscular dystrophy -MONDO:0011248 distal monosomy 13q Orphanet:1590 MONDO:equivalentTo Distal deletion 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 13q32 deletion -MONDO:0011248 distal monosomy 13q Orphanet:1590 MONDO:equivalentTo Distal deletion 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 13q32 -MONDO:0011248 distal monosomy 13q Orphanet:1590 MONDO:equivalentTo Distal deletion 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 13q32 -MONDO:0011248 distal monosomy 13q Orphanet:1590 MONDO:equivalentTo Distal deletion 13q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 13q -MONDO:0011257 MPI-congenital disorder of glycosylation Orphanet:79319 MONDO:equivalentTo MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ib -MONDO:0011257 MPI-congenital disorder of glycosylation Orphanet:79319 MONDO:equivalentTo MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ib -MONDO:0011257 MPI-congenital disorder of glycosylation Orphanet:79319 MONDO:equivalentTo MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ib -MONDO:0011257 MPI-congenital disorder of glycosylation Orphanet:79319 MONDO:equivalentTo MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1b -MONDO:0011257 MPI-congenital disorder of glycosylation Orphanet:79319 MONDO:equivalentTo MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ib -MONDO:0011257 MPI-congenital disorder of glycosylation Orphanet:79319 MONDO:equivalentTo MPI-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphomannose isomerase deficiency -MONDO:0011264 torsion dystonia 6 Orphanet:98806 MONDO:equivalentTo Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized cervical and upper-limb-onset dystonia -MONDO:0011264 torsion dystonia 6 Orphanet:98806 MONDO:equivalentTo Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia of mixed type -MONDO:0011266 myotonic dystrophy type 2 Orphanet:606 MONDO:equivalentTo Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myotonic dystrophy type 2 -MONDO:0011266 myotonic dystrophy type 2 Orphanet:606 MONDO:equivalentTo Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal myotonic dystrophy -MONDO:0011266 myotonic dystrophy type 2 Orphanet:606 MONDO:equivalentTo Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ricker disease -MONDO:0011266 myotonic dystrophy type 2 Orphanet:606 MONDO:equivalentTo Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ricker syndrome -MONDO:0011266 myotonic dystrophy type 2 Orphanet:606 MONDO:equivalentTo Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myotonic myopathy -MONDO:0011266 myotonic dystrophy type 2 Orphanet:606 MONDO:equivalentTo Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myotonic dystrophy type 2 -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type Orphanet:40 MONDO:equivalentTo Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acromesomelic dysplasia, maroteaux type -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C Orphanet:79320 MONDO:equivalentTo ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ic -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C Orphanet:79320 MONDO:equivalentTo ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ic -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C Orphanet:79320 MONDO:equivalentTo ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ic -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C Orphanet:79320 MONDO:equivalentTo ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1c -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C Orphanet:79320 MONDO:equivalentTo ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ic -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C Orphanet:79320 MONDO:equivalentTo ALG6-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosyltransferase 1 deficiency -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations Orphanet:93360 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym semd-md -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations Orphanet:93360 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxicity, hall type -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations Orphanet:93360 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations Orphanet:93360 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with multiple dislocations, hall type -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations Orphanet:93360 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type -MONDO:0011339 hereditary spastic paraplegia 8 Orphanet:100989 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 8 -MONDO:0011342 SLC35A1-congenital disorder of glycosylation Orphanet:238459 MONDO:equivalentTo SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iif -MONDO:0011342 SLC35A1-congenital disorder of glycosylation Orphanet:238459 MONDO:equivalentTo SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iif -MONDO:0011342 SLC35A1-congenital disorder of glycosylation Orphanet:238459 MONDO:equivalentTo SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iif -MONDO:0011342 SLC35A1-congenital disorder of glycosylation Orphanet:238459 MONDO:equivalentTo SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmp-sialic acid transporter deficiency -MONDO:0011342 SLC35A1-congenital disorder of glycosylation Orphanet:238459 MONDO:equivalentTo SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2f -MONDO:0011342 SLC35A1-congenital disorder of glycosylation Orphanet:238459 MONDO:equivalentTo SLC35A1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iif -MONDO:0011359 acromelic frontonasal dysostosis Orphanet:1827 MONDO:equivalentTo Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acromelic frontonasal dysostosis -MONDO:0011359 acromelic frontonasal dysostosis Orphanet:1827 MONDO:equivalentTo Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym toriello syndrome -MONDO:0011359 acromelic frontonasal dysostosis Orphanet:1827 MONDO:equivalentTo Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acromelic frontonasal dysostosis -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure Orphanet:178464 MONDO:equivalentTo Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edström myopathy -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure Orphanet:178464 MONDO:equivalentTo Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary inclusion body myopathy with early respiratory failure -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure Orphanet:178464 MONDO:equivalentTo Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hibm-erf -MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure Orphanet:178464 MONDO:equivalentTo Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myofibrillar myopathy with early respiratory failure -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type Orphanet:3047 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type Orphanet:3047 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym say-barber-biesecker-young-simpson syndrome -MONDO:0011396 loricrin keratoderma Orphanet:79395 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camisa disease -MONDO:0011396 loricrin keratoderma Orphanet:79395 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome -MONDO:0011396 loricrin keratoderma Orphanet:79395 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym loricrin keratoderma -MONDO:0011396 loricrin keratoderma Orphanet:79395 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vohwinkel syndrome with ichthyosis -MONDO:0011396 loricrin keratoderma Orphanet:79395 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratoderma hereditarium mutilans with ichthyosis -MONDO:0011396 loricrin keratoderma Orphanet:79395 MONDO:equivalentTo Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym loricrin keratoderma -MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy Orphanet:314404 MONDO:equivalentTo Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adca-dn syndrome -MONDO:0011399 alpha thalassemia Orphanet:846 MONDO:equivalentTo Alpha-thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alpha-thalassemia -MONDO:0011408 hereditary spastic paraplegia 10 Orphanet:100991 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 10 -MONDO:0011417 hemochromatosis type 3 Orphanet:225123 MONDO:equivalentTo TFR2-related hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tfr2-related hemochromatosis -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E Orphanet:119 MONDO:equivalentTo Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E Orphanet:119 MONDO:equivalentTo Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2e -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type Orphanet:293725 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharophimosis-intellectual disability syndrome type v -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type Orphanet:293725 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs type v -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type Orphanet:293725 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bmrs, verloes type -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 1 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinal muscular atrophy with respiratory distress -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmn6 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diaphragmatic spinal muscular atrophy -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type 6 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal-hmn type 6 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma1 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure type 1 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 Orphanet:98920 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 -MONDO:0011445 hereditary spastic paraplegia 11 Orphanet:2822 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakamura-osame syndrome -MONDO:0011445 hereditary spastic paraplegia 11 Orphanet:2822 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia-intellectual disability-thin corpus callosum syndrome -MONDO:0011445 hereditary spastic paraplegia 11 Orphanet:2822 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 11 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome Orphanet:69126 MONDO:equivalentTo PAPA syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial recurrent arthritis -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome Orphanet:69126 MONDO:equivalentTo PAPA syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fra -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome Orphanet:69126 MONDO:equivalentTo PAPA syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papa syndrome -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome Orphanet:69126 MONDO:equivalentTo PAPA syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyogenic arthritis-pyoderma gangrenosum-acne syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency Orphanet:158668 MONDO:equivalentTo Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcgrath syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency Orphanet:158668 MONDO:equivalentTo Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectodermal dysplasia-skin fragility syndrome -MONDO:0011476 MHC class I deficiency Orphanet:34592 MONDO:equivalentTo Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bare lymphocyte syndrome type 1 -MONDO:0011476 MHC class I deficiency Orphanet:34592 MONDO:equivalentTo Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mhc class i deficiency -MONDO:0011479 postural orthostatic tachycardia syndrome Orphanet:443236 MONDO:equivalentTo Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial orthostatic tachycardia due to norepinephrine transporter deficiency -MONDO:0011479 postural orthostatic tachycardia syndrome Orphanet:443236 MONDO:equivalentTo Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orthostatic intolerance due to net deficiency -MONDO:0011481 craniosynostosis 2 Orphanet:1541 MONDO:equivalentTo Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniosynostosis, warman type -MONDO:0011481 craniosynostosis 2 Orphanet:1541 MONDO:equivalentTo Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warman-mulliken-hayward syndrome -MONDO:0011486 congenital muscular dystrophy 1B Orphanet:98893 MONDO:equivalentTo Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital muscular dystrophy type 1b -MONDO:0011489 hereditary spastic paraplegia 12 Orphanet:100993 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 12 -MONDO:0011517 pseudohyperaldosteronism type 2 Orphanet:88660 MONDO:equivalentTo Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early-onset hypertension with exacerbation in pregnancy -MONDO:0011517 pseudohyperaldosteronism type 2 Orphanet:88660 MONDO:equivalentTo Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertension due to gain-of-function mutations in the mineralocorticoid receptor -MONDO:0011517 pseudohyperaldosteronism type 2 Orphanet:88660 MONDO:equivalentTo Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudohyperaldosteronism type 2 -MONDO:0011522 hereditary spastic paraplegia 14 Orphanet:100995 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 14 -MONDO:0011537 macrocephaly-autism syndrome Orphanet:210548 MONDO:equivalentTo Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macrocephaly-intellectual disability-autism syndrome -MONDO:0011539 nemaline myopathy 5 Orphanet:98902 MONDO:equivalentTo Amish nemaline myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amish nemaline myopathy -MONDO:0011541 dilated cardiomyopathy 1J Orphanet:217622 MONDO:equivalentTo Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurosensory deafness with dilated cardiomyopathy -MONDO:0011541 dilated cardiomyopathy 1J Orphanet:217622 MONDO:equivalentTo Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurosensory hearing loss with dilated cardiomyopathy -MONDO:0011541 dilated cardiomyopathy 1J Orphanet:217622 MONDO:equivalentTo Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sensorineural hearing loss with dilated cardiomyopathy -MONDO:0011541 dilated cardiomyopathy 1J Orphanet:217622 MONDO:equivalentTo Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sensorineural deafness with dilated cardiomyopathy -MONDO:0011551 TH-deficient dopa-responsive dystonia Orphanet:101150 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive segawa syndrome -MONDO:0011551 TH-deficient dopa-responsive dystonia Orphanet:101150 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyt5b -MONDO:0011551 TH-deficient dopa-responsive dystonia Orphanet:101150 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase-deficient dopa-responsive dystonia -MONDO:0011551 TH-deficient dopa-responsive dystonia Orphanet:101150 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive dopa-responsive dystonia -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratoderma with woolly hair type ii -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kwwh type ii -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome -MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma Orphanet:65282 MONDO:equivalentTo Carvajal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carvajal syndrome -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 Orphanet:401869 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nfu1 deficiency -MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 Orphanet:401869 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 1 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 Orphanet:139552 MONDO:equivalentTo Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 2 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 Orphanet:139552 MONDO:equivalentTo Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmnj -MONDO:0011595 nonsyndromic congenital nail disorder 7 Orphanet:79144 MONDO:equivalentTo Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coif syndrome -MONDO:0011595 nonsyndromic congenital nail disorder 7 Orphanet:79144 MONDO:equivalentTo Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital onychodysplasia of the index fingers -MONDO:0011595 nonsyndromic congenital nail disorder 7 Orphanet:79144 MONDO:equivalentTo Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iso-kikuchi syndrome -MONDO:0011629 MOGS-congenital disorder of glycosylation Orphanet:79330 MONDO:equivalentTo MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iib -MONDO:0011629 MOGS-congenital disorder of glycosylation Orphanet:79330 MONDO:equivalentTo MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iib -MONDO:0011629 MOGS-congenital disorder of glycosylation Orphanet:79330 MONDO:equivalentTo MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iib -MONDO:0011629 MOGS-congenital disorder of glycosylation Orphanet:79330 MONDO:equivalentTo MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2b -MONDO:0011629 MOGS-congenital disorder of glycosylation Orphanet:79330 MONDO:equivalentTo MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iib -MONDO:0011629 MOGS-congenital disorder of glycosylation Orphanet:79330 MONDO:equivalentTo MOGS-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosidase 1 deficiency -MONDO:0011631 hemochromatosis type 4 Orphanet:648562 MONDO:equivalentTo Ferroportin Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ferroportin disease -MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C Orphanet:99937 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2c -MONDO:0011652 Phelan-McDermid syndrome Orphanet:48652 MONDO:equivalentTo Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome Orphanet:48652 MONDO:equivalentTo Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011655 alveolar soft part sarcoma Orphanet:163699 MONDO:equivalentTo Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma Orphanet:163699 MONDO:equivalentTo Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alveolar soft part sarcoma -MONDO:0011669 hypotonia-cystinuria syndrome Orphanet:238517 MONDO:equivalentTo Hypotonia-cystinuria type 1 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotonia-cystinuria type 1 syndrome -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency Orphanet:230839 MONDO:equivalentTo Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome due to tenascin-x deficiency -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency Orphanet:230839 MONDO:equivalentTo Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ehlers-danlos syndrome due to tenascin-x deficiency -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG Orphanet:100043 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type a -MONDO:0011686 DNA ligase IV deficiency Orphanet:99812 MONDO:equivalentTo LIG4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dna ligase iv deficiency -MONDO:0011686 DNA ligase IV deficiency Orphanet:99812 MONDO:equivalentTo LIG4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ligase 4 syndrome -MONDO:0011686 DNA ligase IV deficiency Orphanet:99812 MONDO:equivalentTo LIG4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lig4 syndrome -MONDO:0011686 DNA ligase IV deficiency Orphanet:99812 MONDO:equivalentTo LIG4 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dna ligase iv deficiency -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F Orphanet:99940 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2f -MONDO:0011698 glycine N-methyltransferase deficiency Orphanet:289891 MONDO:equivalentTo Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycine n-methyltransferase deficiency -MONDO:0011698 glycine N-methyltransferase deficiency Orphanet:289891 MONDO:equivalentTo Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypermethioninemia due to gnmt deficiency -MONDO:0011698 glycine N-methyltransferase deficiency Orphanet:289891 MONDO:equivalentTo Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypermethioninemia due to glycine n-methyltransferase deficiency -MONDO:0011698 glycine N-methyltransferase deficiency Orphanet:289891 MONDO:equivalentTo Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycine n-methyltransferase deficiency -MONDO:0011713 melanoma-pancreatic cancer syndrome Orphanet:404560 MONDO:equivalentTo Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma-pancreatic cancer syndrome -MONDO:0011713 melanoma-pancreatic cancer syndrome Orphanet:404560 MONDO:equivalentTo Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma-pancreatic cancer syndrome -MONDO:0011724 encephalopathy due to GLUT1 deficiency Orphanet:71277 MONDO:equivalentTo Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de vivo disease -MONDO:0011724 encephalopathy due to GLUT1 deficiency Orphanet:71277 MONDO:equivalentTo Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to glut1 deficiency -MONDO:0011724 encephalopathy due to GLUT1 deficiency Orphanet:71277 MONDO:equivalentTo Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym encephalopathy due to glut1 deficiency -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 Orphanet:139547 MONDO:equivalentTo Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 3 -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 Orphanet:139547 MONDO:equivalentTo Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dhmn3 and dhmn4 -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 Orphanet:139547 MONDO:equivalentTo Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type 3 and type 4 -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 Orphanet:139547 MONDO:equivalentTo Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma3 -MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 Orphanet:139547 MONDO:equivalentTo Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 3 -MONDO:0011772 B4GALT1-congenital disorder of glycosylation Orphanet:79332 MONDO:equivalentTo B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-1,4-galactosyltransferase deficiency -MONDO:0011772 B4GALT1-congenital disorder of glycosylation Orphanet:79332 MONDO:equivalentTo B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iid -MONDO:0011772 B4GALT1-congenital disorder of glycosylation Orphanet:79332 MONDO:equivalentTo B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iid -MONDO:0011772 B4GALT1-congenital disorder of glycosylation Orphanet:79332 MONDO:equivalentTo B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iid -MONDO:0011772 B4GALT1-congenital disorder of glycosylation Orphanet:79332 MONDO:equivalentTo B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2d -MONDO:0011772 B4GALT1-congenital disorder of glycosylation Orphanet:79332 MONDO:equivalentTo B4GALT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iid -MONDO:0011783 ALG12-congenital disorder of glycosylation Orphanet:79324 MONDO:equivalentTo ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ig -MONDO:0011783 ALG12-congenital disorder of glycosylation Orphanet:79324 MONDO:equivalentTo ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ig -MONDO:0011783 ALG12-congenital disorder of glycosylation Orphanet:79324 MONDO:equivalentTo ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ig -MONDO:0011783 ALG12-congenital disorder of glycosylation Orphanet:79324 MONDO:equivalentTo ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1g -MONDO:0011783 ALG12-congenital disorder of glycosylation Orphanet:79324 MONDO:equivalentTo ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ig -MONDO:0011783 ALG12-congenital disorder of glycosylation Orphanet:79324 MONDO:equivalentTo ALG12-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 8 deficiency -MONDO:0011785 hereditary spastic paraplegia 19 Orphanet:100999 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 19 -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I Orphanet:34515 MONDO:equivalentTo FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to fkrp deficiency -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I Orphanet:34515 MONDO:equivalentTo FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2i -MONDO:0011803 hereditary spastic paraplegia 7 Orphanet:99013 MONDO:equivalentTo Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B Orphanet:275517 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alps with recurrent viral infections -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B Orphanet:275517 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caspase 8 deficiency syndrome -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B Orphanet:275517 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoimmune lymphoproliferative syndrome with recurrent viral infections -MONDO:0011812 Duane-radial ray syndrome Orphanet:93293 MONDO:equivalentTo Okihiro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane-radial ray syndrome -MONDO:0011812 Duane-radial ray syndrome Orphanet:93293 MONDO:equivalentTo Okihiro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label okihiro syndrome -MONDO:0011812 Duane-radial ray syndrome Orphanet:93293 MONDO:equivalentTo Okihiro syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym duane-radial ray syndrome -MONDO:0011812 Duane-radial ray syndrome Orphanet:959 MONDO:equivalentTo Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acro-renal-ocular syndrome -MONDO:0011822 Bartter disease type 3 Orphanet:93605 MONDO:equivalentTo Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type iii -MONDO:0011822 Bartter disease type 3 Orphanet:93605 MONDO:equivalentTo Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 3 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Orphanet:402082 MONDO:equivalentTo Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pme type 5 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Orphanet:402082 MONDO:equivalentTo Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonus epilepsy type 5 -MONDO:0011841 biotin-responsive basal ganglia disease Orphanet:199348 MONDO:equivalentTo Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thiamine-responsive encephalopathy -MONDO:0011841 biotin-responsive basal ganglia disease Orphanet:65284 MONDO:equivalentTo Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label biotin-thiamine-responsive basal ganglia disease -MONDO:0011841 biotin-responsive basal ganglia disease Orphanet:65284 MONDO:equivalentTo Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym biotin-responsive basal ganglia disease -MONDO:0011862 hereditary spastic paraplegia 24 Orphanet:101004 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 24 -MONDO:0011868 lethal congenital contracture syndrome 2 Orphanet:137776 MONDO:equivalentTo Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple contracture syndrome, israeli-bedouin type -MONDO:0011868 lethal congenital contracture syndrome 2 Orphanet:137776 MONDO:equivalentTo Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal congenital contracture syndrome type 2 -MONDO:0011871 Niemann-Pick disease type B Orphanet:77293 MONDO:equivalentTo Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym niemann-pick disease type b -MONDO:0011877 autosomal dominant osteopetrosis 1 Orphanet:2783 MONDO:equivalentTo Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant osteopetrosis type 1 -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome Orphanet:307766 MONDO:equivalentTo Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chac syndrome -MONDO:0011886 torsion dystonia 13 Orphanet:98807 MONDO:equivalentTo Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary dystonia with mixed phenotype -MONDO:0011886 torsion dystonia 13 Orphanet:98807 MONDO:equivalentTo Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary torsion dystonia with predominant craniocervical or upper limb onset -MONDO:0011888 immunodeficiency 67 Orphanet:70592 MONDO:equivalentTo Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym irak4 deficiency -MONDO:0011888 immunodeficiency 67 Orphanet:70592 MONDO:equivalentTo Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency -MONDO:0011894 Charcot-Marie-Tooth disease type 2E Orphanet:99939 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2e -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome Orphanet:137639 MONDO:equivalentTo Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-delayed dentition-hypomyelination syndrome -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H Orphanet:101102 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ar-cmt2c -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H Orphanet:101102 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive axonal cmt4c2 -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H Orphanet:101102 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym axonal charcot-marie-tooth disease with pyramidal involvement -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H Orphanet:101102 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disease type 2h -MONDO:0011904 seizures, benign familial infantile, 3 Orphanet:140927 MONDO:equivalentTo Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign neonatal-infantile epilepsy -MONDO:0011904 seizures, benign familial infantile, 3 Orphanet:140927 MONDO:equivalentTo Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial neonatal-infantile seizures -MONDO:0011906 congenital bile acid synthesis defect 1 Orphanet:79301 MONDO:equivalentTo Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 1 -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D Orphanet:100046 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type d -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K Orphanet:101097 MONDO:equivalentTo Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disease type 2k -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K Orphanet:101097 MONDO:equivalentTo Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive axonal cmt4c4 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K Orphanet:101097 MONDO:equivalentTo Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive charcot-marie-tooth disease with hoarseness -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults Orphanet:2688 MONDO:equivalentTo Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult idiopathic neutropenia -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A Orphanet:258 MONDO:equivalentTo Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy due to laminin alpha2 deficiency -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A Orphanet:258 MONDO:equivalentTo Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym merosin-negative congenital muscular dystrophy -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(p36) -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 1p36 -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 1pter -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1p36 -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1pter -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subtelomeric 1p36 deletion -MONDO:0011929 chromosome 1p36 deletion syndrome Orphanet:1606 MONDO:equivalentTo 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1p36 deletion syndrome -MONDO:0011933 ALG2-congenital disorder of glycosylation Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ii -MONDO:0011933 ALG2-congenital disorder of glycosylation Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ii -MONDO:0011933 ALG2-congenital disorder of glycosylation Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1i -MONDO:0011933 ALG2-congenital disorder of glycosylation Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0011933 ALG2-congenital disorder of glycosylation Orphanet:79326 MONDO:equivalentTo ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 2 deficiency -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation Orphanet:1855 MONDO:equivalentTo Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondyloenchondromatosis -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation Orphanet:1855 MONDO:equivalentTo Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with enchondromatous changes -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation Orphanet:1855 MONDO:equivalentTo Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloenchondrodysplasia -MONDO:0011945 Gaucher disease perinatal lethal Orphanet:85212 MONDO:equivalentTo Fetal Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perinatal lethal gaucher disease -MONDO:0011945 Gaucher disease perinatal lethal Orphanet:85212 MONDO:equivalentTo Fetal Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal gaucher disease -MONDO:0011964 DPAGT1-congenital disorder of glycosylation Orphanet:86309 MONDO:equivalentTo DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ij -MONDO:0011964 DPAGT1-congenital disorder of glycosylation Orphanet:86309 MONDO:equivalentTo DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ij -MONDO:0011964 DPAGT1-congenital disorder of glycosylation Orphanet:86309 MONDO:equivalentTo DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ij -MONDO:0011964 DPAGT1-congenital disorder of glycosylation Orphanet:86309 MONDO:equivalentTo DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1j -MONDO:0011964 DPAGT1-congenital disorder of glycosylation Orphanet:86309 MONDO:equivalentTo DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ij -MONDO:0011964 DPAGT1-congenital disorder of glycosylation Orphanet:86309 MONDO:equivalentTo DPAGT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D Orphanet:62 MONDO:equivalentTo Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-sarcoglycanopathy -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D Orphanet:62 MONDO:equivalentTo Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D Orphanet:62 MONDO:equivalentTo Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2d -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D Orphanet:62 MONDO:equivalentTo Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2d -MONDO:0011969 ALG8-congenital disorder of glycosylation Orphanet:79325 MONDO:equivalentTo ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ih -MONDO:0011969 ALG8-congenital disorder of glycosylation Orphanet:79325 MONDO:equivalentTo ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ih -MONDO:0011969 ALG8-congenital disorder of glycosylation Orphanet:79325 MONDO:equivalentTo ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ih -MONDO:0011969 ALG8-congenital disorder of glycosylation Orphanet:79325 MONDO:equivalentTo ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1h -MONDO:0011969 ALG8-congenital disorder of glycosylation Orphanet:79325 MONDO:equivalentTo ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ih -MONDO:0011969 ALG8-congenital disorder of glycosylation Orphanet:79325 MONDO:equivalentTo ALG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucosyltransferase 2 deficiency -MONDO:0011975 paternal uniparental disomy of chromosome 14 Orphanet:96334 MONDO:equivalentTo Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym upd(14)pat -MONDO:0011992 hereditary spastic paraplegia 25 Orphanet:101005 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic paraplegia-disc herniation syndrome -MONDO:0011992 hereditary spastic paraplegia 25 Orphanet:101005 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 25 -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive Orphanet:521 MONDO:equivalentTo Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic granulocytic leukemia -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive Orphanet:521 MONDO:equivalentTo Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic myelogenous leukemia -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive Orphanet:521 MONDO:equivalentTo Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloid leukemia -MONDO:0012004 parathyroid gland carcinoma Orphanet:143 MONDO:equivalentTo Parathyroid carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parathyroid carcinoma -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C Orphanet:100045 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type c -MONDO:0012013 Weill-Marchesani syndrome 2, dominant Orphanet:2084 MONDO:equivalentTo Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gemss syndrome -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A Orphanet:217055 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type a -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A Orphanet:217055 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type a -MONDO:0012016 capillary malformation-arteriovenous malformation syndrome Orphanet:137667 MONDO:equivalentTo Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cm-avm -MONDO:0012020 chromosome 22q11.2 microduplication syndrome Orphanet:1727 MONDO:equivalentTo 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 22q11.2 microduplication syndrome -MONDO:0012020 chromosome 22q11.2 microduplication syndrome Orphanet:1727 MONDO:equivalentTo 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(22)(q11) -MONDO:0012020 chromosome 22q11.2 microduplication syndrome Orphanet:1727 MONDO:equivalentTo 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duplication 22q11.2 -MONDO:0012020 chromosome 22q11.2 microduplication syndrome Orphanet:1727 MONDO:equivalentTo 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 22q11.2 -MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F Orphanet:55595 MONDO:equivalentTo TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1f -MONDO:0012041 familial adenomatous polyposis 2 Orphanet:247798 MONDO:equivalentTo MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutyh-related afap -MONDO:0012041 familial adenomatous polyposis 2 Orphanet:247798 MONDO:equivalentTo MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutyh-related attenuated familial polyposis coli -MONDO:0012041 familial adenomatous polyposis 2 Orphanet:247798 MONDO:equivalentTo MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutyh-related attenuated fap -MONDO:0012041 familial adenomatous polyposis 2 Orphanet:247798 MONDO:equivalentTo MUTYH-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mutyh-related attenuated familial adenomatous polyposis -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior limiting membrane dystrophy type 1 -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior limiting membrane dystrophy type i -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical granular corneal dystrophy -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym corneal dystrophy of bowman layer type 1 -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym corneal dystrophy of bowman layer type i -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym geographic corneal dystrophy -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granular corneal dystrophy type 3 -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granular corneal dystrophy type iii -MONDO:0012043 Reis-Bucklers corneal dystrophy Orphanet:98961 MONDO:equivalentTo Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym superficial granular corneal dystrophy -MONDO:0012052 ALG1-congenital disorder of glycosylation Orphanet:79327 MONDO:equivalentTo ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ik -MONDO:0012052 ALG1-congenital disorder of glycosylation Orphanet:79327 MONDO:equivalentTo ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ik -MONDO:0012052 ALG1-congenital disorder of glycosylation Orphanet:79327 MONDO:equivalentTo ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ik -MONDO:0012052 ALG1-congenital disorder of glycosylation Orphanet:79327 MONDO:equivalentTo ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1k -MONDO:0012052 ALG1-congenital disorder of glycosylation Orphanet:79327 MONDO:equivalentTo ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ik -MONDO:0012052 ALG1-congenital disorder of glycosylation Orphanet:79327 MONDO:equivalentTo ALG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 1 deficiency -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Orphanet:1200 MONDO:equivalentTo Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label burn-mckeown syndrome -MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Orphanet:1200 MONDO:equivalentTo Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome -MONDO:0012072 familial partial lipodystrophy, Kobberling type Orphanet:79084 MONDO:equivalentTo Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial partial lipodystrophy type 1 -MONDO:0012089 ichthyosis prematurity syndrome Orphanet:88621 MONDO:equivalentTo Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ichthyosis type 4 -MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L Orphanet:99945 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2l -MONDO:0012117 ALG9-congenital disorder of glycosylation Orphanet:79328 MONDO:equivalentTo ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type il -MONDO:0012117 ALG9-congenital disorder of glycosylation Orphanet:79328 MONDO:equivalentTo ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-il -MONDO:0012117 ALG9-congenital disorder of glycosylation Orphanet:79328 MONDO:equivalentTo ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1l -MONDO:0012117 ALG9-congenital disorder of glycosylation Orphanet:79328 MONDO:equivalentTo ALG9-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mannosyltransferase 7-9 deficiency -MONDO:0012118 COG7-congenital disorder of glycosylation Orphanet:79333 MONDO:equivalentTo COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iie -MONDO:0012118 COG7-congenital disorder of glycosylation Orphanet:79333 MONDO:equivalentTo COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iie -MONDO:0012118 COG7-congenital disorder of glycosylation Orphanet:79333 MONDO:equivalentTo COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iie -MONDO:0012118 COG7-congenital disorder of glycosylation Orphanet:79333 MONDO:equivalentTo COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2e -MONDO:0012118 COG7-congenital disorder of glycosylation Orphanet:79333 MONDO:equivalentTo COG7-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iie -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ie -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ie -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ie -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1e -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ie -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dol-p-mannosyltransferase deficiency -MONDO:0012123 congenital disorder of glycosylation type 1E Orphanet:79322 MONDO:equivalentTo DPM1-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type 1e -MONDO:0012125 hypomyelinating leukodystrophy 2 Orphanet:280282 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pelizaeus-merzbacher-like disease due to gjc2 mutation -MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J Orphanet:140922 MONDO:equivalentTo Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2j -MONDO:0012130 myofibrillar myopathy 2 Orphanet:399058 MONDO:equivalentTo Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym late-onset distal crystallinopathy -MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth Orphanet:498485 MONDO:equivalentTo Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome Orphanet:319340 MONDO:equivalentTo Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carney complex variant -MONDO:0012181 hereditary spastic paraplegia 27 Orphanet:101007 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 27 -MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G Orphanet:55596 MONDO:equivalentTo HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1g -MONDO:0012198 PCWH syndrome Orphanet:163746 MONDO:equivalentTo Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurologic waardenburg-shah syndrome -MONDO:0012198 PCWH syndrome Orphanet:163746 MONDO:equivalentTo Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ws4 plus -MONDO:0012206 Czech dysplasia, metatarsal type Orphanet:137678 MONDO:equivalentTo Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym czech dysplasia, metatarsal type -MONDO:0012206 Czech dysplasia, metatarsal type Orphanet:137678 MONDO:equivalentTo Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym czech dysplasia, metatarsal type -MONDO:0012211 MPDU1-congenital disorder of glycosylation Orphanet:79323 MONDO:equivalentTo MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type if -MONDO:0012211 MPDU1-congenital disorder of glycosylation Orphanet:79323 MONDO:equivalentTo MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type if -MONDO:0012211 MPDU1-congenital disorder of glycosylation Orphanet:79323 MONDO:equivalentTo MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-if -MONDO:0012211 MPDU1-congenital disorder of glycosylation Orphanet:79323 MONDO:equivalentTo MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1f -MONDO:0012211 MPDU1-congenital disorder of glycosylation Orphanet:79323 MONDO:equivalentTo MPDU1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type if -MONDO:0012213 hereditary spastic paraplegia 26 Orphanet:101006 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gm2 synthase deficiency -MONDO:0012213 hereditary spastic paraplegia 26 Orphanet:101006 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 26 -MONDO:0012215 myofibrillar myopathy 3 Orphanet:209224 MONDO:equivalentTo Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy -MONDO:0012215 myofibrillar myopathy 3 Orphanet:266 MONDO:equivalentTo Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy due to myotilin deficiency -MONDO:0012215 myofibrillar myopathy 3 Orphanet:266 MONDO:equivalentTo Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant limb-girdle muscular dystrophy type 1a -MONDO:0012215 myofibrillar myopathy 3 Orphanet:268129 MONDO:equivalentTo Spheroid body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spheroid body myopathy -MONDO:0012215 myofibrillar myopathy 3 Orphanet:98911 MONDO:equivalentTo Distal myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal myotilinopathy -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Orphanet:397618 MONDO:equivalentTo Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fhonda syndrome -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 Orphanet:284324 MONDO:equivalentTo Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 7 -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K Orphanet:86812 MONDO:equivalentTo POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy-intellectual disability syndrome -MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K Orphanet:86812 MONDO:equivalentTo POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2k -MONDO:0012256 hereditary spastic paraplegia 28 Orphanet:101008 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 28 -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema Orphanet:158681 MONDO:equivalentTo Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-migr -MONDO:0012269 chromosome 3q29 microdeletion syndrome Orphanet:65286 MONDO:equivalentTo 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3q subtelomere deletion syndrome -MONDO:0012269 chromosome 3q29 microdeletion syndrome Orphanet:65286 MONDO:equivalentTo 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3qter deletion -MONDO:0012269 chromosome 3q29 microdeletion syndrome Orphanet:65286 MONDO:equivalentTo 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(3)(q29) -MONDO:0012269 chromosome 3q29 microdeletion syndrome Orphanet:65286 MONDO:equivalentTo 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3q29 -MONDO:0012269 chromosome 3q29 microdeletion syndrome Orphanet:65286 MONDO:equivalentTo 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3qter -MONDO:0012269 chromosome 3q29 microdeletion syndrome Orphanet:65286 MONDO:equivalentTo 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3q29 microdeletion syndrome -MONDO:0012275 fetal valproate syndrome Orphanet:1906 MONDO:equivalentTo Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal valproate syndrome -MONDO:0012275 fetal valproate syndrome Orphanet:1906 MONDO:equivalentTo Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal valproic acid syndrome -MONDO:0012275 fetal valproate syndrome Orphanet:1906 MONDO:equivalentTo Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal valproate syndrome -MONDO:0012277 myofibrillar myopathy 4 Orphanet:98912 MONDO:equivalentTo Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zasp-related myofibrillar myopathy -MONDO:0012315 distal 10q deletion syndrome Orphanet:96148 MONDO:equivalentTo Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 10q -MONDO:0012315 distal 10q deletion syndrome Orphanet:96148 MONDO:equivalentTo Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10qter -MONDO:0012315 distal 10q deletion syndrome Orphanet:96148 MONDO:equivalentTo Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 10q -MONDO:0012315 distal 10q deletion syndrome Orphanet:96148 MONDO:equivalentTo Distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 10q -MONDO:0012324 Frias syndrome Orphanet:264200 MONDO:equivalentTo 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 14q22-q23 microdeletion syndrome -MONDO:0012324 Frias syndrome Orphanet:264200 MONDO:equivalentTo 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(14)(q22q23) -MONDO:0012324 Frias syndrome Orphanet:264200 MONDO:equivalentTo 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q22-q23 -MONDO:0012324 Frias syndrome Orphanet:264200 MONDO:equivalentTo 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q22q23 -MONDO:0012324 Frias syndrome Orphanet:264200 MONDO:equivalentTo 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 14q22q23 microdeletion syndrome -MONDO:0012368 aminoacylase 1 deficiency Orphanet:137754 MONDO:equivalentTo Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym n-acyl-l-amino acid amidohydrolase deficiency -MONDO:0012368 aminoacylase 1 deficiency Orphanet:137754 MONDO:equivalentTo Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurological conditions associated with aminoacylase 1 deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 Orphanet:71212 MONDO:equivalentTo Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 Orphanet:71212 MONDO:equivalentTo Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinism due to glutamodehydrogenase deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 Orphanet:71212 MONDO:equivalentTo Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinism due to schad deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 Orphanet:71212 MONDO:equivalentTo Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:1947 MONDO:equivalentTo Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln8 disease, northern epilepsy variant -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:1947 MONDO:equivalentTo Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ncl, northern epilepsy variant -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:1947 MONDO:equivalentTo Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, northern epilepsy variant -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:1947 MONDO:equivalentTo Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym northern epilepsy -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:1947 MONDO:equivalentTo Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive epilepsy-intellectual disability syndrome, finnish type -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 Orphanet:300573 MONDO:equivalentTo Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymicrogyria due to tubb2b mutation -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome Orphanet:163681 MONDO:equivalentTo CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdfe syndrome -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome Orphanet:163681 MONDO:equivalentTo CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical dysplasia-focal epilepsy syndrome -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome Orphanet:163681 MONDO:equivalentTo CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cortical dysplasia-focal epilepsy syndrome -MONDO:0012411 giant axonal neuropathy 2 Orphanet:401964 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons -MONDO:0012411 giant axonal neuropathy 2 Orphanet:401964 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2 with giant axons -MONDO:0012411 giant axonal neuropathy 2 Orphanet:401964 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hmsn2 with giant axons -MONDO:0012414 neuronal ceroid lipofuscinosis 10 Orphanet:228337 MONDO:equivalentTo CLN10 disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cathepsin d deficiency -MONDO:0012435 3-methylglutaconic aciduria type 5 Orphanet:66634 MONDO:equivalentTo Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-methylglutaconic aciduria type 5 -MONDO:0012435 3-methylglutaconic aciduria type 5 Orphanet:66634 MONDO:equivalentTo Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dcma syndrome -MONDO:0012435 3-methylglutaconic aciduria type 5 Orphanet:66634 MONDO:equivalentTo Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dilated cardiomyopathy with ataxia -MONDO:0012435 3-methylglutaconic aciduria type 5 Orphanet:66634 MONDO:equivalentTo Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 3-methylglutaconic aciduria type 5 -MONDO:0012453 hereditary spastic paraplegia 31 Orphanet:101011 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 31 -MONDO:0012455 Kleefstra syndrome Orphanet:96147 MONDO:equivalentTo Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome -MONDO:0012476 hereditary spastic paraplegia 30 Orphanet:101010 MONDO:equivalentTo Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal spastic paraplegia type 30 -MONDO:0012479 congenital malabsorptive diarrhea 4 Orphanet:83620 MONDO:equivalentTo Enteric anendocrinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital malabsorptive diarrhea due to paucity of enteroendocrine cells -MONDO:0012479 congenital malabsorptive diarrhea 4 Orphanet:83620 MONDO:equivalentTo Enteric anendocrinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enteric anendocrinosis -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type Orphanet:168454 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym semd, geneviève type -MONDO:0012514 hypomyelinating leukodystrophy 5 Orphanet:85163 MONDO:equivalentTo Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypomyelination-congenital cataract syndrome -MONDO:0012517 Gaucher disease due to saposin C deficiency Orphanet:309252 MONDO:equivalentTo Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical gaucher disease due to saposin c deficiency -MONDO:0012521 herpes simplex encephalitis Orphanet:1930 MONDO:equivalentTo Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex meningo-encephalitis -MONDO:0012521 herpes simplex encephalitis Orphanet:1930 MONDO:equivalentTo Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex neuroinvasion -MONDO:0012521 herpes simplex encephalitis Orphanet:1930 MONDO:equivalentTo Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpetic encephalitis -MONDO:0012521 herpes simplex encephalitis Orphanet:1930 MONDO:equivalentTo Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hsv encephalitis -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hae 3 -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hae-iii -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioedema type 3 -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angioneurotic edema type 3 -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-associated angioedema -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-associated angioneurotic edema -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-dependent angioedema -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited estrogen-dependent angioneurotic edema -MONDO:0012526 hereditary angioedema type 3 Orphanet:100054 MONDO:equivalentTo F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary angioedema type 3 -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type im -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type im -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-im -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1m -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type im -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichol kinase deficiency -MONDO:0012556 DK1-congenital disorder of glycosylation Orphanet:91131 MONDO:equivalentTo DK1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotonia and ichthyosis due to dolichol phosphate deficiency -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency Orphanet:90023 MONDO:equivalentTo Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency syndrome with short stature -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency Orphanet:90023 MONDO:equivalentTo Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary immunodeficiency syndrome due to lamtor2 deficiency -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency Orphanet:90023 MONDO:equivalentTo Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency syndrome due to p14 deficiency -MONDO:0012574 Potocki-Lupski syndrome Orphanet:1713 MONDO:equivalentTo 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym potocki-lupski syndrome -MONDO:0012574 Potocki-Lupski syndrome Orphanet:1713 MONDO:equivalentTo 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17p11.2 -MONDO:0012574 Potocki-Lupski syndrome Orphanet:1713 MONDO:equivalentTo 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17p11.2 microduplication syndrome -MONDO:0012574 Potocki-Lupski syndrome Orphanet:1713 MONDO:equivalentTo 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym potocki-lupski syndrome -MONDO:0012605 isolated microphthalmia 5 Orphanet:251279 MONDO:equivalentTo Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 Orphanet:206580 MONDO:equivalentTo Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 4 -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 Orphanet:206580 MONDO:equivalentTo Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy type 4 -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 Orphanet:206580 MONDO:equivalentTo Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma4 -MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 Orphanet:206580 MONDO:equivalentTo Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive lower motor neuron disease with childhood onset -MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy Orphanet:500533 MONDO:equivalentTo Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pmse syndrome -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome Orphanet:314555 MONDO:equivalentTo Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamamy syndrome -MONDO:0012635 COG8-congenital disorder of glycosylation Orphanet:95428 MONDO:equivalentTo COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iih -MONDO:0012635 COG8-congenital disorder of glycosylation Orphanet:95428 MONDO:equivalentTo COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iih -MONDO:0012635 COG8-congenital disorder of glycosylation Orphanet:95428 MONDO:equivalentTo COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iih -MONDO:0012635 COG8-congenital disorder of glycosylation Orphanet:95428 MONDO:equivalentTo COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2h -MONDO:0012635 COG8-congenital disorder of glycosylation Orphanet:95428 MONDO:equivalentTo COG8-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iih -MONDO:0012637 COG1-congenital disorder of glycosylation Orphanet:263508 MONDO:equivalentTo COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iig -MONDO:0012637 COG1-congenital disorder of glycosylation Orphanet:263508 MONDO:equivalentTo COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iig -MONDO:0012637 COG1-congenital disorder of glycosylation Orphanet:263508 MONDO:equivalentTo COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iig -MONDO:0012637 COG1-congenital disorder of glycosylation Orphanet:263508 MONDO:equivalentTo COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2g -MONDO:0012637 COG1-congenital disorder of glycosylation Orphanet:263508 MONDO:equivalentTo COG1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iig -MONDO:0012643 hereditary spastic paraplegia 32 Orphanet:171622 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 32 -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L Orphanet:206549 MONDO:equivalentTo Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2l -MONDO:0012656 lethal congenital contracture syndrome 3 Orphanet:137783 MONDO:equivalentTo Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal congenital contracture syndrome type 3 -MONDO:0012664 spastic ataxia 3 Orphanet:314603 MONDO:equivalentTo Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 3 -MONDO:0012679 autosomal recessive osteopetrosis 6 Orphanet:210110 MONDO:equivalentTo Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive intermediate osteopetrosis -MONDO:0012682 immunodeficiency 35 Orphanet:331226 MONDO:equivalentTo Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label susceptibility to infection due to tyk2 deficiency -MONDO:0012687 familial cavitary optic disk anomaly Orphanet:464760 MONDO:equivalentTo Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial coda -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M Orphanet:206554 MONDO:equivalentTo Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2m -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia Orphanet:93610 MONDO:equivalentTo Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym drta with anemia -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia Orphanet:93610 MONDO:equivalentTo Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal renal tubular acidosis with anemia -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type Orphanet:163654 MONDO:equivalentTo Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type Orphanet:163654 MONDO:equivalentTo Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type Orphanet:163654 MONDO:equivalentTo Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome -MONDO:0012719 combined PSAP deficiency Orphanet:139406 MONDO:equivalentTo Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined prosaposin deficiency -MONDO:0012719 combined PSAP deficiency Orphanet:139406 MONDO:equivalentTo Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label encephalopathy due to prosaposin deficiency -MONDO:0012724 familial cold autoinflammatory syndrome 2 Orphanet:247868 MONDO:equivalentTo NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome type 2 -MONDO:0012724 familial cold autoinflammatory syndrome 2 Orphanet:247868 MONDO:equivalentTo NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nlrp12-associated hereditary periodic fever syndrome -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Orphanet:73229 MONDO:equivalentTo HANAC syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Orphanet:73229 MONDO:equivalentTo HANAC syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hanac syndrome -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Orphanet:73229 MONDO:equivalentTo HANAC syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome -MONDO:0012727 mucocutaneous lymph node syndrome Orphanet:2331 MONDO:equivalentTo Kawasaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucocutaneous lymph node syndrome -MONDO:0012727 mucocutaneous lymph node syndrome Orphanet:2331 MONDO:equivalentTo Kawasaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mucocutaneous lymph node syndrome -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal Orphanet:261330 MONDO:equivalentTo Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal del(22)(q11.2) -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal Orphanet:261330 MONDO:equivalentTo Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 22q11.2 -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal Orphanet:261330 MONDO:equivalentTo Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal 22q11.2 microdeletion syndrome -MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome Orphanet:53696 MONDO:equivalentTo Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vuopala disease -MONDO:0012761 chromosome 3q29 microduplication syndrome Orphanet:251038 MONDO:equivalentTo 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 3q29 -MONDO:0012761 chromosome 3q29 microduplication syndrome Orphanet:251038 MONDO:equivalentTo 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3q29 microduplication syndrome -MONDO:0012766 hereditary spastic paraplegia 37 Orphanet:171612 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 37 -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome Orphanet:199318 MONDO:equivalentTo 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(15)(q13.3) -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome Orphanet:199318 MONDO:equivalentTo 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q13.3 -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome Orphanet:199318 MONDO:equivalentTo 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 15q13.3 microdeletion syndrome -MONDO:0012783 RFT1-congenital disorder of glycosylation Orphanet:244310 MONDO:equivalentTo RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type in -MONDO:0012783 RFT1-congenital disorder of glycosylation Orphanet:244310 MONDO:equivalentTo RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type in -MONDO:0012783 RFT1-congenital disorder of glycosylation Orphanet:244310 MONDO:equivalentTo RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-in -MONDO:0012783 RFT1-congenital disorder of glycosylation Orphanet:244310 MONDO:equivalentTo RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1n -MONDO:0012783 RFT1-congenital disorder of glycosylation Orphanet:244310 MONDO:equivalentTo RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type in -MONDO:0012783 RFT1-congenital disorder of glycosylation Orphanet:244310 MONDO:equivalentTo RFT1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym man5glcnac2-pp-dol flippase deficiency -MONDO:0012787 hereditary spastic paraplegia 39 Orphanet:139480 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia due to neuropathy target esterase mutation -MONDO:0012787 hereditary spastic paraplegia 39 Orphanet:139480 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia due to nte mutation -MONDO:0012787 hereditary spastic paraplegia 39 Orphanet:139480 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 39 -MONDO:0012792 mitochondrial DNA depletion syndrome 8a Orphanet:255235 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency Orphanet:103909 MONDO:equivalentTo Trehalase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated trehalose intolerance -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 Orphanet:98811 MONDO:equivalentTo Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 18 -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 Orphanet:98811 MONDO:equivalentTo Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ped -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia Orphanet:158684 MONDO:equivalentTo Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ebs-pa -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia Orphanet:158684 MONDO:equivalentTo Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex with pyloric atresia -MONDO:0012809 histiocytoma, Angiomatoid fibrous Orphanet:569164 MONDO:equivalentTo Angiomatoid fibrous histiocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angiomatoid fibrous histiocytoma -MONDO:0012812 developmental and epileptic encephalopathy, 4 Orphanet:599373 MONDO:equivalentTo STXBP1-related encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stxbp1-related encephalopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 Orphanet:280288 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 Orphanet:280288 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pelizaeus-merzbacher-like disease due to hspd1 mutation -MONDO:0012830 chromosome 10q23 deletion syndrome Orphanet:276413 MONDO:equivalentTo 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(10)(q22.3q23.3) -MONDO:0012830 chromosome 10q23 deletion syndrome Orphanet:276413 MONDO:equivalentTo 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 10q22.3q23.3 -MONDO:0012830 chromosome 10q23 deletion syndrome Orphanet:276413 MONDO:equivalentTo 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10q22.3q23.3 -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2095 MONDO:equivalentTo Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniofacial dysostosis-genital, dental, cardiac anomalies syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2095 MONDO:equivalentTo Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2095 MONDO:equivalentTo Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2095 MONDO:equivalentTo Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gcm syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2095 MONDO:equivalentTo Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gorlin-chaudhry-moss syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2963 MONDO:equivalentTo Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fontaine progeroid syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2963 MONDO:equivalentTo Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym petty syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2963 MONDO:equivalentTo Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym petty-laxova-wiedemann syndrome -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2963 MONDO:equivalentTo Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progeroid syndrome, petty type -MONDO:0012853 Fontaine progeroid syndrome Orphanet:2963 MONDO:equivalentTo Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fontaine progeroid syndrome -MONDO:0012856 Birk-Barel syndrome Orphanet:166108 MONDO:equivalentTo Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-hypotonia-facial dysmorphism syndrome -MONDO:0012859 autosomal recessive osteopetrosis 7 Orphanet:178389 MONDO:equivalentTo Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia -MONDO:0012859 autosomal recessive osteopetrosis 7 Orphanet:178389 MONDO:equivalentTo Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive osteopetrosis type 7 -MONDO:0012859 autosomal recessive osteopetrosis 7 Orphanet:178389 MONDO:equivalentTo Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteopetrosis-hypogammaglobulinemia syndrome -MONDO:0012864 chromosome 2q32-q33 deletion syndrome Orphanet:251019 MONDO:equivalentTo 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(q32) -MONDO:0012864 chromosome 2q32-q33 deletion syndrome Orphanet:251019 MONDO:equivalentTo 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(q32q33) -MONDO:0012864 chromosome 2q32-q33 deletion syndrome Orphanet:251019 MONDO:equivalentTo 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2q32 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome Orphanet:251019 MONDO:equivalentTo 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2q32q33 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome Orphanet:251019 MONDO:equivalentTo 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 2q32q33 microdeletion syndrome -MONDO:0012866 hereditary spastic paraplegia 35 Orphanet:171629 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 35 -MONDO:0012867 hereditary spastic paraplegia 38 Orphanet:171617 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 38 -MONDO:0012885 SRD5A3-congenital disorder of glycosylation Orphanet:324737 MONDO:equivalentTo SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iq -MONDO:0012885 SRD5A3-congenital disorder of glycosylation Orphanet:324737 MONDO:equivalentTo SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iq -MONDO:0012885 SRD5A3-congenital disorder of glycosylation Orphanet:324737 MONDO:equivalentTo SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1q -MONDO:0012885 SRD5A3-congenital disorder of glycosylation Orphanet:324737 MONDO:equivalentTo SRD5A3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iq -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness Orphanet:300284 MONDO:equivalentTo Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bone fragility-contractures-arterial rupture-deafness syndrome -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness Orphanet:300284 MONDO:equivalentTo Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym connective tissue disorder due to lh3 deficiency -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness Orphanet:300284 MONDO:equivalentTo Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label connective tissue disorder due to lysyl hydroxylase-3 deficiency -MONDO:0012901 inherited prekallikrein deficiency Orphanet:749 MONDO:equivalentTo Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital prekallikrein deficiency -MONDO:0012905 hypomyelinating leukodystrophy 6 Orphanet:139441 MONDO:equivalentTo Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h-abc -MONDO:0012905 hypomyelinating leukodystrophy 6 Orphanet:139441 MONDO:equivalentTo Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypomyelination with atrophy of basal ganglia and cerebellum -MONDO:0012914 chromosome 1q21.1 deletion syndrome Orphanet:250989 MONDO:equivalentTo 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(q21) -MONDO:0012914 chromosome 1q21.1 deletion syndrome Orphanet:250989 MONDO:equivalentTo 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1q21.1 -MONDO:0012914 chromosome 1q21.1 deletion syndrome Orphanet:250989 MONDO:equivalentTo 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1q21.1 microdeletion syndrome -MONDO:0012915 chromosome 1q21.1 duplication syndrome Orphanet:250994 MONDO:equivalentTo 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(1)(q21.1) -MONDO:0012915 chromosome 1q21.1 duplication syndrome Orphanet:250994 MONDO:equivalentTo 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 1q21.1 -MONDO:0012915 chromosome 1q21.1 duplication syndrome Orphanet:250994 MONDO:equivalentTo 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1q21.1 microduplication syndrome -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome Orphanet:261349 MONDO:equivalentTo 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(p15p16.1) -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome Orphanet:261349 MONDO:equivalentTo 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2p15p16.1 -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome Orphanet:261349 MONDO:equivalentTo 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 2p15p16.1 microdeletion syndrome -MONDO:0012927 chromosome 1q41-q42 deletion syndrome Orphanet:250999 MONDO:equivalentTo 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(q41q42) -MONDO:0012927 chromosome 1q41-q42 deletion syndrome Orphanet:250999 MONDO:equivalentTo 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1q41q42 -MONDO:0012927 chromosome 1q41-q42 deletion syndrome Orphanet:250999 MONDO:equivalentTo 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1q41q42 microdeletion syndrome -MONDO:0012928 hereditary spastic paraplegia 42 Orphanet:171863 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 42 -MONDO:0012948 chromosome 6pter-p24 deletion syndrome Orphanet:96125 MONDO:equivalentTo Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 6p subtelomeric deletion syndrome -MONDO:0012948 chromosome 6pter-p24 deletion syndrome Orphanet:96125 MONDO:equivalentTo Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 6p25 microdeletion syndrome -MONDO:0012948 chromosome 6pter-p24 deletion syndrome Orphanet:96125 MONDO:equivalentTo Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 6p25 -MONDO:0012948 chromosome 6pter-p24 deletion syndrome Orphanet:96125 MONDO:equivalentTo Distal deletion 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 6p -MONDO:0012964 chromosome 15q26-qter deletion syndrome Orphanet:1596 MONDO:equivalentTo Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 15q26 deletion syndrome -MONDO:0012964 chromosome 15q26-qter deletion syndrome Orphanet:1596 MONDO:equivalentTo Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 15q -MONDO:0012964 chromosome 15q26-qter deletion syndrome Orphanet:1596 MONDO:equivalentTo Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q26 -MONDO:0012964 chromosome 15q26-qter deletion syndrome Orphanet:1596 MONDO:equivalentTo Distal deletion 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric 15q deletion syndrome -MONDO:0012984 PHARC syndrome Orphanet:171848 MONDO:equivalentTo Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral neuropathy, fiskerstrand type -MONDO:0012984 PHARC syndrome Orphanet:171848 MONDO:equivalentTo Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharc syndrome -MONDO:0012984 PHARC syndrome Orphanet:171848 MONDO:equivalentTo Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pharc syndrome -MONDO:0012996 AGAT deficiency Orphanet:35704 MONDO:equivalentTo L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agat deficiency -MONDO:0012996 AGAT deficiency Orphanet:35704 MONDO:equivalentTo L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label l-arginine:glycine amidinotransferase deficiency -MONDO:0012996 AGAT deficiency Orphanet:35704 MONDO:equivalentTo L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym agat deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency Orphanet:95157 MONDO:equivalentTo Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria -MONDO:0013016 leukocyte adhesion deficiency 3 Orphanet:99844 MONDO:equivalentTo Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad-1 variant -MONDO:0013016 leukocyte adhesion deficiency 3 Orphanet:99844 MONDO:equivalentTo Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lad-iii -MONDO:0013016 leukocyte adhesion deficiency 3 Orphanet:99844 MONDO:equivalentTo Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukocyte adhesion deficiency-1 variant -MONDO:0013016 leukocyte adhesion deficiency 3 Orphanet:99844 MONDO:equivalentTo Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type iii -MONDO:0013025 chromosome 6q24-q25 deletion syndrome Orphanet:251056 MONDO:equivalentTo 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(6)(q25) -MONDO:0013025 chromosome 6q24-q25 deletion syndrome Orphanet:251056 MONDO:equivalentTo 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 6q25 -MONDO:0013025 chromosome 6q24-q25 deletion syndrome Orphanet:251056 MONDO:equivalentTo 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 6q25 microdeletion syndrome -MONDO:0013035 orofaciodigital syndrome XI Orphanet:141000 MONDO:equivalentTo Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 11 -MONDO:0013035 orofaciodigital syndrome XI Orphanet:141000 MONDO:equivalentTo Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome, gabrielli type -MONDO:0013035 orofaciodigital syndrome XI Orphanet:141000 MONDO:equivalentTo Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome, gabrielli type -MONDO:0013049 DPM3-congenital disorder of glycosylation Orphanet:263494 MONDO:equivalentTo DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type io -MONDO:0013049 DPM3-congenital disorder of glycosylation Orphanet:263494 MONDO:equivalentTo DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type io -MONDO:0013049 DPM3-congenital disorder of glycosylation Orphanet:263494 MONDO:equivalentTo DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-io -MONDO:0013049 DPM3-congenital disorder of glycosylation Orphanet:263494 MONDO:equivalentTo DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1o -MONDO:0013049 DPM3-congenital disorder of glycosylation Orphanet:263494 MONDO:equivalentTo DPM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type io -MONDO:0013056 developmental and epileptic encephalopathy, 39 Orphanet:353217 MONDO:equivalentTo Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agc1 deficiency -MONDO:0013056 developmental and epileptic encephalopathy, 39 Orphanet:353217 MONDO:equivalentTo Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial aspartate-glutamate carrier 1 deficiency -MONDO:0013056 developmental and epileptic encephalopathy, 39 Orphanet:353217 MONDO:equivalentTo Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epileptic encephalopathy with global cerebral demyelination -MONDO:0013060 autosomal recessive Parkinson disease 14 Orphanet:199351 MONDO:equivalentTo Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia-parkinsonism, paisan-ruiz type -MONDO:0013060 autosomal recessive Parkinson disease 14 Orphanet:199351 MONDO:equivalentTo Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pla2g6-related dystonia-parkinsonism -MONDO:0013081 lymphoproliferative syndrome 1 Orphanet:538963 MONDO:equivalentTo Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym itk deficiency -MONDO:0013090 chromosome 19q13.11 deletion syndrome Orphanet:217346 MONDO:equivalentTo 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(19)(q13.11) -MONDO:0013090 chromosome 19q13.11 deletion syndrome Orphanet:217346 MONDO:equivalentTo 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 19q13.11 -MONDO:0013090 chromosome 19q13.11 deletion syndrome Orphanet:217346 MONDO:equivalentTo 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 19q13.11 microdeletion syndrome -MONDO:0013091 glycogen storage disease IXc Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type ixc -MONDO:0013091 glycogen storage disease IXc Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9c -MONDO:0013091 glycogen storage disease IXc Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixc -MONDO:0013099 combined pituitary hormone deficiencies, genetic form Orphanet:95494 MONDO:equivalentTo Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial congenital hypopituitarism -MONDO:0013099 combined pituitary hormone deficiencies, genetic form Orphanet:95494 MONDO:equivalentTo Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple pituitary hormone deficiencies, genetic forms -MONDO:0013127 asphyxiating thoracic dystrophy 3 Orphanet:93270 MONDO:equivalentTo Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short rib-polydactyly syndrome type 1 -MONDO:0013127 asphyxiating thoracic dystrophy 3 Orphanet:93271 MONDO:equivalentTo Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short rib-polydactyly syndrome type 3 -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adtkd-ren -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy type 2 -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fjhn type 2 -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ren-associated familial juvenile hyperuricemic nephropathy -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ren-associated fjhn -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ren-associated kidney disease -MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Orphanet:217330 MONDO:equivalentTo REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy type 2 -MONDO:0013132 hereditary spastic paraplegia 36 Orphanet:320365 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 36 -MONDO:0013144 hereditary antithrombin deficiency Orphanet:82 MONDO:equivalentTo Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary thrombophilia due to congenital antithrombin 3 deficiency -MONDO:0013144 hereditary antithrombin deficiency Orphanet:82 MONDO:equivalentTo Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary thrombophilia due to congenital antithrombin deficiency -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O Orphanet:206564 MONDO:equivalentTo POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2o -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N Orphanet:206559 MONDO:equivalentTo POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2n -MONDO:0013165 hereditary spastic paraplegia 45 Orphanet:320396 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic paraplegia type 65 -MONDO:0013165 hereditary spastic paraplegia 45 Orphanet:320396 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 45 -MONDO:0013166 GABA aminotransaminase deficiency Orphanet:2066 MONDO:equivalentTo Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaba transaminase deficiency -MONDO:0013166 GABA aminotransaminase deficiency Orphanet:2066 MONDO:equivalentTo Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gamma-aminobutyric acid transaminase deficiency -MONDO:0013169 chromosome 5p13 duplication syndrome Orphanet:329802 MONDO:equivalentTo 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(5)(p13) -MONDO:0013169 chromosome 5p13 duplication syndrome Orphanet:329802 MONDO:equivalentTo 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 5p13 -MONDO:0013169 chromosome 5p13 duplication syndrome Orphanet:329802 MONDO:equivalentTo 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 5p13 microduplication syndrome -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive Orphanet:363992 MONDO:equivalentTo Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 15q26.3 microdeletion syndrome -MONDO:0013176 Weill-Marchesani 4 syndrome, recessive Orphanet:363992 MONDO:equivalentTo Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis-short stature-brachydactyly-microspherophakia syndrome -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency Orphanet:34520 MONDO:equivalentTo Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital muscular dystrophy with itga7 deficiency -MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency Orphanet:34520 MONDO:equivalentTo Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital muscular dystrophy with integrin alpha-7 deficiency -MONDO:0013182 chromosome 17p13.3 duplication syndrome Orphanet:217385 MONDO:equivalentTo 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17p13.3 duplication syndrome -MONDO:0013182 chromosome 17p13.3 duplication syndrome Orphanet:217385 MONDO:equivalentTo 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(17)(p13.3) -MONDO:0013182 chromosome 17p13.3 duplication syndrome Orphanet:217385 MONDO:equivalentTo 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17p13.3 -MONDO:0013182 chromosome 17p13.3 duplication syndrome Orphanet:217385 MONDO:equivalentTo 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17p13.3 microduplication syndrome -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy Orphanet:92050 MONDO:equivalentTo Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intestinal epithelial dysplasia -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy Orphanet:92050 MONDO:equivalentTo Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tufting enteropathy -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N Orphanet:228174 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2n -MONDO:0013222 Miyoshi muscular dystrophy 3 Orphanet:399096 MONDO:equivalentTo Distal anoctaminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 3 -MONDO:0013222 Miyoshi muscular dystrophy 3 Orphanet:399096 MONDO:equivalentTo Distal anoctaminopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal anoctaminopathy -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies Orphanet:221139 MONDO:equivalentTo Combined immunodeficiency with facio-oculo-skeletal anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roifman-chitayat syndrome -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome Orphanet:261279 MONDO:equivalentTo 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q23.1q23.2) -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome Orphanet:261279 MONDO:equivalentTo 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q23.1q23.2 -MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome Orphanet:261279 MONDO:equivalentTo 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q23.1q23.2 microdeletion syndrome -MONDO:0013239 hereditary spastic paraplegia 41 Orphanet:320355 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 41 -MONDO:0013256 chromosome 15q24 deletion syndrome Orphanet:94065 MONDO:equivalentTo 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(15)(q24) -MONDO:0013256 chromosome 15q24 deletion syndrome Orphanet:94065 MONDO:equivalentTo 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q24 -MONDO:0013256 chromosome 15q24 deletion syndrome Orphanet:94065 MONDO:equivalentTo 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 15q24 microdeletion syndrome -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly Orphanet:228390 MONDO:equivalentTo Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alx4-related fndag -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly Orphanet:228390 MONDO:equivalentTo Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniofrontonasal dysplasia with alopecia and hypogonadism -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly Orphanet:228390 MONDO:equivalentTo Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontonasal dysplasia type 2 -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly Orphanet:228390 MONDO:equivalentTo Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontonasal dysplasia with alopecia and genital abnomality -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Orphanet:306542 MONDO:equivalentTo Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alx1-related frontonasal dysplasia -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Orphanet:306542 MONDO:equivalentTo Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontonasal dysplasia type 3 -MONDO:0013272 chromosome 14q11-q22 deletion syndrome Orphanet:261120 MONDO:equivalentTo 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(14)(q11.2) -MONDO:0013272 chromosome 14q11-q22 deletion syndrome Orphanet:261120 MONDO:equivalentTo 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q11.2 -MONDO:0013272 chromosome 14q11-q22 deletion syndrome Orphanet:261120 MONDO:equivalentTo 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 14q11.2 microdeletion syndrome -MONDO:0013273 chromosome 16p13.3 duplication syndrome Orphanet:96078 MONDO:equivalentTo 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal duplication 16p -MONDO:0013273 chromosome 16p13.3 duplication syndrome Orphanet:96078 MONDO:equivalentTo 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal trisomy 16p -MONDO:0013273 chromosome 16p13.3 duplication syndrome Orphanet:96078 MONDO:equivalentTo 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(16)(p13.3) -MONDO:0013273 chromosome 16p13.3 duplication syndrome Orphanet:96078 MONDO:equivalentTo 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 16p -MONDO:0013273 chromosome 16p13.3 duplication syndrome Orphanet:96078 MONDO:equivalentTo 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 16pter -MONDO:0013273 chromosome 16p13.3 duplication syndrome Orphanet:96078 MONDO:equivalentTo 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 16p13.3 microduplication syndrome -MONDO:0013281 COG4-congenital disorder of glycosylation Orphanet:263501 MONDO:equivalentTo COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iij -MONDO:0013281 COG4-congenital disorder of glycosylation Orphanet:263501 MONDO:equivalentTo COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iij -MONDO:0013281 COG4-congenital disorder of glycosylation Orphanet:263501 MONDO:equivalentTo COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iij -MONDO:0013281 COG4-congenital disorder of glycosylation Orphanet:263501 MONDO:equivalentTo COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2j -MONDO:0013281 COG4-congenital disorder of glycosylation Orphanet:263501 MONDO:equivalentTo COG4-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iij -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type 15 -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disease type xv -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 15 -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type xv -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis with severe cardiomyopathy due to glycogenin deficiency -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 15 -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type xv -MONDO:0013291 glycogen storage disease XV Orphanet:263297 MONDO:equivalentTo Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd with severe cardiomyopathy due to glycogenin deficiency -MONDO:0013292 chromosome 4q21 deletion syndrome Orphanet:238750 MONDO:equivalentTo 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(4)(q21) -MONDO:0013292 chromosome 4q21 deletion syndrome Orphanet:238750 MONDO:equivalentTo 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 4q21 -MONDO:0013292 chromosome 4q21 deletion syndrome Orphanet:238750 MONDO:equivalentTo 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 4q21 microdeletion syndrome -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement Orphanet:168953 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 8p11 myeloproliferative syndrome -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement Orphanet:168953 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stem cell leukemia/lymphoma -MONDO:0013298 chromosome 17q21.31 duplication syndrome Orphanet:217340 MONDO:equivalentTo 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(17)(q21.31) -MONDO:0013298 chromosome 17q21.31 duplication syndrome Orphanet:217340 MONDO:equivalentTo 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17q21.31 -MONDO:0013298 chromosome 17q21.31 duplication syndrome Orphanet:217340 MONDO:equivalentTo 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q21.31 microduplication syndrome -MONDO:0013300 commissural facial cleft Orphanet:141276 MONDO:equivalentTo Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym commissural facial cleft -MONDO:0013304 von Willebrand disease 2 Orphanet:166081 MONDO:equivalentTo Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disease type 2 -MONDO:0013308 CBL-related disorder Orphanet:363972 MONDO:equivalentTo Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cbl syndrome -MONDO:0013308 CBL-related disorder Orphanet:363972 MONDO:equivalentTo Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome-like disorder with jmml -MONDO:0013308 CBL-related disorder Orphanet:363972 MONDO:equivalentTo Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label noonan syndrome-like disorder with juvenile myelomonocytic leukemia -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome Orphanet:261211 MONDO:equivalentTo 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(16)(p11.2p12.2) -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome Orphanet:261211 MONDO:equivalentTo 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 16p11.2p12.2 -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome Orphanet:261211 MONDO:equivalentTo 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 16p11.2p12.2 microdeletion syndrome -MONDO:0013325 COG5-congenital disorder of glycosylation Orphanet:263487 MONDO:equivalentTo COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iii -MONDO:0013325 COG5-congenital disorder of glycosylation Orphanet:263487 MONDO:equivalentTo COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iii -MONDO:0013325 COG5-congenital disorder of glycosylation Orphanet:263487 MONDO:equivalentTo COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iii -MONDO:0013325 COG5-congenital disorder of glycosylation Orphanet:263487 MONDO:equivalentTo COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2i -MONDO:0013325 COG5-congenital disorder of glycosylation Orphanet:263487 MONDO:equivalentTo COG5-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iii -MONDO:0013334 cocoon syndrome Orphanet:465824 MONDO:equivalentTo Fetal encasement syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal encasement syndrome -MONDO:0013336 chromosome 19p13.13 deletion syndrome Orphanet:357001 MONDO:equivalentTo 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(19)(p13.13) -MONDO:0013336 chromosome 19p13.13 deletion syndrome Orphanet:357001 MONDO:equivalentTo 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 19p13.13 -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B Orphanet:254334 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type b -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B Orphanet:254334 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type b -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect Orphanet:280183 MONDO:equivalentTo Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic acidemia, tcb1r type -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect Orphanet:280183 MONDO:equivalentTo Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic acidemia, tcbir type -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect Orphanet:280183 MONDO:equivalentTo Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methylmalonic aciduria due to transcobalamin receptor defect -MONDO:0013342 hereditary spastic paraplegia 48 Orphanet:306511 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 48 -MONDO:0013349 ALG11-congenital disorder of glycosylation Orphanet:280071 MONDO:equivalentTo ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ip -MONDO:0013349 ALG11-congenital disorder of glycosylation Orphanet:280071 MONDO:equivalentTo ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ip -MONDO:0013349 ALG11-congenital disorder of glycosylation Orphanet:280071 MONDO:equivalentTo ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ip -MONDO:0013349 ALG11-congenital disorder of glycosylation Orphanet:280071 MONDO:equivalentTo ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1p -MONDO:0013349 ALG11-congenital disorder of glycosylation Orphanet:280071 MONDO:equivalentTo ALG11-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ip -MONDO:0013354 spastic ataxia 4 Orphanet:254343 MONDO:equivalentTo Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 4 -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda due to klf1 mutation -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda iv -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 4 -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type iv -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia due to klf1 mutation -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 4 -MONDO:0013355 congenital dyserythropoietic anemia type 4 Orphanet:293825 MONDO:equivalentTo Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 4 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Orphanet:137634 MONDO:equivalentTo Overgrowth-macrocephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label overgrowth-macrocephaly-facial dysmorphism syndrome -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Orphanet:97685 MONDO:equivalentTo 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q11) -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Orphanet:97685 MONDO:equivalentTo 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q11 -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Orphanet:97685 MONDO:equivalentTo 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Orphanet:97685 MONDO:equivalentTo 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 microdeletion syndrome -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Orphanet:97685 MONDO:equivalentTo 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q11 microdeletion syndrome -MONDO:0013361 congenital prothrombin deficiency Orphanet:325 MONDO:equivalentTo Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysprothrombinemia -MONDO:0013387 developmental and epileptic encephalopathy, 7 Orphanet:439218 MONDO:equivalentTo KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kcnq2-nee -MONDO:0013387 developmental and epileptic encephalopathy, 7 Orphanet:439218 MONDO:equivalentTo KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kcnq2-related neonatal epileptic encephalopathy -MONDO:0013387 developmental and epileptic encephalopathy, 7 Orphanet:439218 MONDO:equivalentTo KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kcnq2-related epileptic encephalopathy -MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q Orphanet:254361 MONDO:equivalentTo Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2q -MONDO:0013391 sterol carrier protein 2 deficiency Orphanet:163684 MONDO:equivalentTo Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukoencephalopathy-dystonia-motor neuropathy syndrome -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 Orphanet:284289 MONDO:equivalentTo Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 10 -MONDO:0013396 chromosome 1p32-p31 deletion syndrome Orphanet:401986 MONDO:equivalentTo 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(1)(p31p32) -MONDO:0013396 chromosome 1p32-p31 deletion syndrome Orphanet:401986 MONDO:equivalentTo 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1p31p32 -MONDO:0013396 chromosome 1p32-p31 deletion syndrome Orphanet:401986 MONDO:equivalentTo 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 1p31p32 microdeletion syndrome -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency Orphanet:168558 MONDO:equivalentTo 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xy sex reversal-adrenal failure -MONDO:0013424 3p- syndrome Orphanet:1620 MONDO:equivalentTo Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3p- syndrome -MONDO:0013424 3p- syndrome Orphanet:1620 MONDO:equivalentTo Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal monosomy 3p -MONDO:0013424 3p- syndrome Orphanet:1620 MONDO:equivalentTo Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3pter -MONDO:0013424 3p- syndrome Orphanet:1620 MONDO:equivalentTo Distal deletion 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric monosomy 3p -MONDO:0013424 3p- syndrome Orphanet:1620 MONDO:equivalentTo Distal deletion 3p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 3p- syndrome -MONDO:0013427 immunodeficiency 31B Orphanet:391311 MONDO:equivalentTo Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stat1 deficiency -MONDO:0013439 congenital bile acid synthesis defect 3 Orphanet:79302 MONDO:equivalentTo Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oxysterol 7-alpha-hydroxylase deficiency -MONDO:0013439 congenital bile acid synthesis defect 3 Orphanet:79302 MONDO:equivalentTo Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital bile acid synthesis defect type 3 -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P Orphanet:280333 MONDO:equivalentTo Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2p -MONDO:0013481 chromosome 13q14 deletion syndrome Orphanet:1587 MONDO:equivalentTo Monosomy 13q14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(13)(q14) -MONDO:0013481 chromosome 13q14 deletion syndrome Orphanet:1587 MONDO:equivalentTo Monosomy 13q14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 13q14 -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency Orphanet:140905 MONDO:equivalentTo Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia due to hepatic lipase deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency Orphanet:140905 MONDO:equivalentTo Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia due to hl deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency Orphanet:140905 MONDO:equivalentTo Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia due to htgl deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency Orphanet:140905 MONDO:equivalentTo Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlipidemia due to hepatic triglyceride lipase deficiency -MONDO:0013536 heme oxygenase 1 deficiency Orphanet:562509 MONDO:equivalentTo Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label heme oxygenase-1 deficiency -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 Orphanet:300570 MONDO:equivalentTo Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Orphanet:1194 MONDO:equivalentTo TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Orphanet:1194 MONDO:equivalentTo TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency -MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Orphanet:1194 MONDO:equivalentTo TMEM70-related mitochondrial encephalo-cardio-myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 Orphanet:280633 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pign deficiency -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 Orphanet:280633 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pign-cdg -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly Orphanet:498497 MONDO:equivalentTo Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short rib-polydactyly syndrome type 5 -MONDO:0013571 acatalasia Orphanet:926 MONDO:equivalentTo Acatalasemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catalase deficiency -MONDO:0013571 acatalasia Orphanet:926 MONDO:equivalentTo Acatalasemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acatalasemia -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency Orphanet:289307 MONDO:equivalentTo Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental delay due to aldh6a1 deficiency -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency Orphanet:289307 MONDO:equivalentTo Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym developmental delay due to mmsdh deficiency -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency Orphanet:289307 MONDO:equivalentTo Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency -MONDO:0013615 craniosynostosis and dental anomalies Orphanet:284149 MONDO:equivalentTo Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kreiborg-pakistani syndrome -MONDO:0013626 psoriasis 14, pustular Orphanet:163931 MONDO:equivalentTo Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrodermatitis continua of hallopeau -MONDO:0013626 psoriasis 14, pustular Orphanet:404546 MONDO:equivalentTo DITRA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deficiency of il-36r antagonist -MONDO:0013626 psoriasis 14, pustular Orphanet:404546 MONDO:equivalentTo DITRA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deficiency of il-36ra -MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O Orphanet:284232 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2o -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 Orphanet:284271 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 11 -MONDO:0013646 chromosome 8q21.11 deletion syndrome Orphanet:284160 MONDO:equivalentTo 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(8)(q21.11) -MONDO:0013646 chromosome 8q21.11 deletion syndrome Orphanet:284160 MONDO:equivalentTo 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 8q21.11 -MONDO:0013646 chromosome 8q21.11 deletion syndrome Orphanet:284160 MONDO:equivalentTo 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 8q21.11 -MONDO:0013646 chromosome 8q21.11 deletion syndrome Orphanet:284160 MONDO:equivalentTo 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 8q21.11 microdeletion syndrome -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency Orphanet:443087 MONDO:equivalentTo 46,XY difference of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to testicular 17,20-desmolase deficiency -MONDO:0013674 neurodegeneration with brain iron accumulation 4 Orphanet:289560 MONDO:equivalentTo Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbia due to c19orf12 mutation -MONDO:0013674 neurodegeneration with brain iron accumulation 4 Orphanet:289560 MONDO:equivalentTo Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation due to c19orf12 mutation -MONDO:0013674 neurodegeneration with brain iron accumulation 4 Orphanet:289560 MONDO:equivalentTo Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 4 -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 Orphanet:401874 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bola3 deficiency -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 Orphanet:401874 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 2 -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency Orphanet:79095 MONDO:equivalentTo Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amacr deficiency -MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 Orphanet:284282 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 12 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Orphanet:85186 MONDO:equivalentTo Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosteal sclerosis-cerebellar hypoplasia syndrome -MONDO:0013737 hereditary spastic paraplegia 46 Orphanet:320391 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 46 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P Orphanet:300319 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disease type 2p -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P Orphanet:99941 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2g -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E Orphanet:93114 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease-nephropathy syndrome -MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E Orphanet:93114 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type e -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 Orphanet:293822 MONDO:equivalentTo MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitf-related melanoma and renal cell carcinoma predisposition syndrome -MONDO:0013766 familial cold autoinflammatory syndrome 3 Orphanet:300359 MONDO:equivalentTo PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical cold urticaria -MONDO:0013766 familial cold autoinflammatory syndrome 3 Orphanet:300359 MONDO:equivalentTo PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold urticaria with common variable immunodeficiency -MONDO:0013766 familial cold autoinflammatory syndrome 3 Orphanet:300359 MONDO:equivalentTo PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plaid -MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 Orphanet:268114 MONDO:equivalentTo RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ras-associated autoimmune leukoproliferative disease -MONDO:0013776 spastic ataxia 5 Orphanet:313772 MONDO:equivalentTo Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome -MONDO:0013776 spastic ataxia 5 Orphanet:313772 MONDO:equivalentTo Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 5 -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures Orphanet:435845 MONDO:equivalentTo Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lethal neonatal rigidity-multifocal seizure syndrome -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures Orphanet:435845 MONDO:equivalentTo Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lethal neonatal spasticity-epileptic encephalopathy syndrome -MONDO:0013789 DDOST-congenital disorder of glycosylation Orphanet:300536 MONDO:equivalentTo DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ir -MONDO:0013789 DDOST-congenital disorder of glycosylation Orphanet:300536 MONDO:equivalentTo DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ir -MONDO:0013789 DDOST-congenital disorder of glycosylation Orphanet:300536 MONDO:equivalentTo DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ir -MONDO:0013789 DDOST-congenital disorder of glycosylation Orphanet:300536 MONDO:equivalentTo DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1r -MONDO:0013789 DDOST-congenital disorder of glycosylation Orphanet:300536 MONDO:equivalentTo DDOST-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ir -MONDO:0013796 chromosome 17q12 duplication syndrome Orphanet:261272 MONDO:equivalentTo 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dup(17)(q12) -MONDO:0013796 chromosome 17q12 duplication syndrome Orphanet:261272 MONDO:equivalentTo 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17q12 -MONDO:0013796 chromosome 17q12 duplication syndrome Orphanet:261272 MONDO:equivalentTo 17q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q12 microduplication syndrome -MONDO:0013797 chromosome 17q12 deletion syndrome Orphanet:261265 MONDO:equivalentTo 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q12) -MONDO:0013797 chromosome 17q12 deletion syndrome Orphanet:261265 MONDO:equivalentTo 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q12 -MONDO:0013797 chromosome 17q12 deletion syndrome Orphanet:261265 MONDO:equivalentTo 17q12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 17q12 microdeletion syndrome -MONDO:0013810 COG6-ongenital disorder of glycosylation Orphanet:464443 MONDO:equivalentTo COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iil -MONDO:0013810 COG6-ongenital disorder of glycosylation Orphanet:464443 MONDO:equivalentTo COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iil -MONDO:0013810 COG6-ongenital disorder of glycosylation Orphanet:464443 MONDO:equivalentTo COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2l -MONDO:0013810 COG6-ongenital disorder of glycosylation Orphanet:464443 MONDO:equivalentTo COG6-CGD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iil -MONDO:0013815 bent bone dysplasia syndrome 1 Orphanet:313855 MONDO:equivalentTo FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perinatal lethal bent bone dysplasia -MONDO:0013815 bent bone dysplasia syndrome 1 Orphanet:313855 MONDO:equivalentTo FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fgfr2-related bent bone dysplasia -MONDO:0013847 chromosome 16p11.2 duplication syndrome Orphanet:370079 MONDO:equivalentTo Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal dup(16)(p11.2) -MONDO:0013847 chromosome 16p11.2 duplication syndrome Orphanet:370079 MONDO:equivalentTo Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym proximal trisomy 16p11.2 -MONDO:0013847 chromosome 16p11.2 duplication syndrome Orphanet:370079 MONDO:equivalentTo Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal 16p11.2 microduplication syndrome -MONDO:0013860 idiopathic membranous glomerulonephritis Orphanet:97560 MONDO:equivalentTo Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic membranous glomerulonephritis -MONDO:0013870 TMEM165-congenital disorder of glycosylation Orphanet:314667 MONDO:equivalentTo TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iik -MONDO:0013870 TMEM165-congenital disorder of glycosylation Orphanet:314667 MONDO:equivalentTo TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iik -MONDO:0013870 TMEM165-congenital disorder of glycosylation Orphanet:314667 MONDO:equivalentTo TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iik -MONDO:0013870 TMEM165-congenital disorder of glycosylation Orphanet:314667 MONDO:equivalentTo TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2k -MONDO:0013870 TMEM165-congenital disorder of glycosylation Orphanet:314667 MONDO:equivalentTo TMEM165-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iik -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Orphanet:352328 MONDO:equivalentTo MEGDEL syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome -MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Orphanet:352328 MONDO:equivalentTo MEGDEL syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megdel syndrome -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome Orphanet:391677 MONDO:equivalentTo Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym soph syndrome -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 Orphanet:324262 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 Orphanet:324262 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 13 -MONDO:0013918 distal tetrasomy 15q Orphanet:314588 MONDO:equivalentTo Distal triplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tetrasomy 15(q25-qter) -MONDO:0013918 distal tetrasomy 15q Orphanet:314588 MONDO:equivalentTo Distal triplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tetrasomy 15q26 -MONDO:0013918 distal tetrasomy 15q Orphanet:314588 MONDO:equivalentTo Distal triplication 15q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal tetrasomy 15q -MONDO:0013922 Seckel syndrome 7 Orphanet:319675 MONDO:equivalentTo Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcephalic primordial dwarfism, dauber type -MONDO:0013928 dystonia 23 Orphanet:420492 MONDO:equivalentTo Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 23 -MONDO:0013928 dystonia 23 Orphanet:420492 MONDO:equivalentTo Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 23 -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 Orphanet:314485 MONDO:equivalentTo Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 Orphanet:314485 MONDO:equivalentTo Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 Orphanet:314485 MONDO:equivalentTo Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn -MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 Orphanet:314485 MONDO:equivalentTo Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label young adult-onset distal hereditary motor neuropathy -MONDO:0013962 hereditary spastic paraplegia 53 Orphanet:319199 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 53 -MONDO:0013968 PGM1-congenital disorder of glycosylation Orphanet:319646 MONDO:equivalentTo PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type it -MONDO:0013968 PGM1-congenital disorder of glycosylation Orphanet:319646 MONDO:equivalentTo PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-it -MONDO:0013968 PGM1-congenital disorder of glycosylation Orphanet:319646 MONDO:equivalentTo PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1t -MONDO:0013968 PGM1-congenital disorder of glycosylation Orphanet:319646 MONDO:equivalentTo PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type it -MONDO:0013968 PGM1-congenital disorder of glycosylation Orphanet:319646 MONDO:equivalentTo PGM1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoglucomutase-1 deficiency -MONDO:0013972 Perrault syndrome 2 Orphanet:642976 MONDO:equivalentTo Perrault syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perrault syndrome type 2 -MONDO:0013981 myoclonus, familial Orphanet:319189 MONDO:equivalentTo Familial cortical myoclonus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial cortical myoclonus -MONDO:0013999 optic nerve edema-splenomegaly syndrome Orphanet:313800 MONDO:equivalentTo Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rosah syndrome -MONDO:0013999 optic nerve edema-splenomegaly syndrome Orphanet:313800 MONDO:equivalentTo Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym optic nerve edema-splenomegaly syndrome -MONDO:0014006 Schuurs-Hoeijmakers syndrome Orphanet:329224 MONDO:equivalentTo Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schuurs-hoeijmakers syndrome -MONDO:0014006 Schuurs-Hoeijmakers syndrome Orphanet:329224 MONDO:equivalentTo Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome -MONDO:0014006 Schuurs-Hoeijmakers syndrome Orphanet:329224 MONDO:equivalentTo Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schuurs-hoeijmakers syndrome -MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q Orphanet:329258 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2q -MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive Orphanet:412189 MONDO:equivalentTo Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex due to exophilin 5 deficiency -MONDO:0014015 hereditary spastic paraplegia 56 Orphanet:320411 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 56 -MONDO:0014016 hereditary spastic paraplegia 49 Orphanet:320385 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spastic paraplegia type 49 -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly Orphanet:642675 MONDO:equivalentTo CHD8 overgrowth syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chd8 overgrowth syndrome -MONDO:0014018 hereditary spastic paraplegia 54 Orphanet:320380 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 54 -MONDO:0014019 dystonia 24 Orphanet:420485 MONDO:equivalentTo Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 24 -MONDO:0014019 dystonia 24 Orphanet:420485 MONDO:equivalentTo Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 24 -MONDO:0014020 hereditary spastic paraplegia 55 Orphanet:320375 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 55 -MONDO:0014024 hereditary spastic paraplegia 43 Orphanet:320370 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 43 -MONDO:0014031 microcephalic primordial dwarfism, Alazami type Orphanet:319671 MONDO:equivalentTo Alazami syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alazami syndrome -MONDO:0014031 microcephalic primordial dwarfism, Alazami type Orphanet:319671 MONDO:equivalentTo Alazami syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microcephalic primordial dwarfism, alazami type -MONDO:0014033 dystonia 25 Orphanet:329466 MONDO:equivalentTo Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dystonia 25 -MONDO:0014033 dystonia 25 Orphanet:329466 MONDO:equivalentTo Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dystonia 25 -MONDO:0014039 mitochondrial DNA depletion syndrome 11 Orphanet:352447 MONDO:equivalentTo Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial dna maintenance syndrome due to mgme1 deficiency -MONDO:0014039 mitochondrial DNA depletion syndrome 11 Orphanet:352447 MONDO:equivalentTo Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna maintenance syndrome due to mgme1 deficiency -MONDO:0014039 mitochondrial DNA depletion syndrome 11 Orphanet:352447 MONDO:equivalentTo Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peo-myopathy-emaciation syndrome -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy Orphanet:352470 MONDO:equivalentTo DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial dna deletion syndrome with limb-girdle weakness -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy Orphanet:352470 MONDO:equivalentTo DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna deletion syndrome with limb-girdle weakness -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy Orphanet:352470 MONDO:equivalentTo DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna deletion syndrome with progressive myopathy -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy Orphanet:352470 MONDO:equivalentTo DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mitochondrial dna deletion syndrome with progressive myopathy -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F Orphanet:352670 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disease type f -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 Orphanet:363424 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iba57 deficiency -MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 Orphanet:363424 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 3 -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Orphanet:536467 MONDO:equivalentTo B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b3galt6-related speds -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Orphanet:536467 MONDO:equivalentTo B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b3galt6-related spondylodysplastic eds -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Orphanet:536467 MONDO:equivalentTo B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta3galt6-deficient eds -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Orphanet:536467 MONDO:equivalentTo B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome progeroid type 2 -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 Orphanet:536467 MONDO:equivalentTo B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym speds-b3galt6 -MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T Orphanet:363623 MONDO:equivalentTo GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2t -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 Orphanet:369840 MONDO:equivalentTo TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2s -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C Orphanet:369867 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type c -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C Orphanet:369867 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type c -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome Orphanet:363649 MONDO:equivalentTo Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mandibular hypoplasia-hearing loss-progeroid syndrome -MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome Orphanet:363649 MONDO:equivalentTo Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mdp syndrome -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 Orphanet:352403 MONDO:equivalentTo Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 14 -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 Orphanet:352403 MONDO:equivalentTo Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile-onset spinocerebellar ataxia-psychomotor delay syndrome -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 Orphanet:352403 MONDO:equivalentTo Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spectrin-associated autosomal recessive cerebellar ataxia type 1 -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 Orphanet:369837 MONDO:equivalentTo Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigt deficiency -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 Orphanet:369837 MONDO:equivalentTo Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcahs type 3 -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 Orphanet:369837 MONDO:equivalentTo Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple congenital anomalies-hypotonia-seizures syndrome type 3 -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 Orphanet:369837 MONDO:equivalentTo Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigt-cdg -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies Orphanet:371364 MONDO:equivalentTo Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ihprf syndrome -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies Orphanet:371364 MONDO:equivalentTo Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile hypotonia-psychomotor retardation-characteristic facies syndrome -MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies Orphanet:371364 MONDO:equivalentTo Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotonia-speech impairment-severe cognitive delay syndrome -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Orphanet:412181 MONDO:equivalentTo Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dst-related epidermolysis bullosa simplex -MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency Orphanet:412181 MONDO:equivalentTo Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa simplex due to bp230 deficiency -MONDO:0014185 chromosome 3q13.31 deletion syndrome Orphanet:1621 MONDO:equivalentTo 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(3)(q13) -MONDO:0014185 chromosome 3q13.31 deletion syndrome Orphanet:1621 MONDO:equivalentTo 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 3q13 -MONDO:0014185 chromosome 3q13.31 deletion syndrome Orphanet:1621 MONDO:equivalentTo 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3q13 microdeletion syndrome -MONDO:0014195 microcornea-myopic chorioretinal atrophy Orphanet:369970 MONDO:equivalentTo Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmcat syndrome -MONDO:0014195 microcornea-myopic chorioretinal atrophy Orphanet:369970 MONDO:equivalentTo Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label microcornea-myopic chorioretinal atrophy-telecanthus syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome Orphanet:2117 MONDO:equivalentTo Hartsfield syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym holoprosencephaly-ectrodactyly-cleft lip/palate syndrome -MONDO:0014198 mitochondrial DNA depletion syndrome 13 Orphanet:369897 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Orphanet:352577 MONDO:equivalentTo Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Orphanet:352577 MONDO:equivalentTo Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome -MONDO:0014221 triosephosphate isomerase deficiency Orphanet:868 MONDO:equivalentTo Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label triose phosphate-isomerase deficiency -MONDO:0014225 hemochromatosis type 5 Orphanet:247790 MONDO:equivalentTo FTH1-related iron overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fth1-associated iron overload -MONDO:0014225 hemochromatosis type 5 Orphanet:247790 MONDO:equivalentTo FTH1-related iron overload semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fth1-related iron overload -MONDO:0014243 Schaaf-Yang syndrome Orphanet:398069 MONDO:equivalentTo MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym magel2-related pwls -MONDO:0014243 Schaaf-Yang syndrome Orphanet:398069 MONDO:equivalentTo MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schaaf-yang syndrome -MONDO:0014243 Schaaf-Yang syndrome Orphanet:398069 MONDO:equivalentTo MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label magel2-related prader-willi-like syndrome -MONDO:0014243 Schaaf-Yang syndrome Orphanet:398069 MONDO:equivalentTo MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schaaf-yang syndrome -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome Orphanet:370943 MONDO:equivalentTo Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym slc35a3-cdg -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Orphanet:391376 MONDO:equivalentTo Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asparagine synthetase deficiency -MONDO:0014270 STT3A-congenital disorder of glycosylation Orphanet:370921 MONDO:equivalentTo STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iw -MONDO:0014270 STT3A-congenital disorder of glycosylation Orphanet:370921 MONDO:equivalentTo STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iw -MONDO:0014270 STT3A-congenital disorder of glycosylation Orphanet:370921 MONDO:equivalentTo STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1w -MONDO:0014270 STT3A-congenital disorder of glycosylation Orphanet:370921 MONDO:equivalentTo STT3A-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type iw -MONDO:0014271 STT3B-congenital disorder of glycosylation Orphanet:370924 MONDO:equivalentTo STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ix -MONDO:0014271 STT3B-congenital disorder of glycosylation Orphanet:370924 MONDO:equivalentTo STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type ix -MONDO:0014271 STT3B-congenital disorder of glycosylation Orphanet:370924 MONDO:equivalentTo STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-ix -MONDO:0014271 STT3B-congenital disorder of glycosylation Orphanet:370924 MONDO:equivalentTo STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1x -MONDO:0014271 STT3B-congenital disorder of glycosylation Orphanet:370924 MONDO:equivalentTo STT3B-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ix -MONDO:0014282 hereditary spastic paraplegia 72 Orphanet:401849 MONDO:equivalentTo Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal spastic paraplegia type 72 -MONDO:0014290 neurodegeneration with brain iron accumulation 6 Orphanet:397725 MONDO:equivalentTo COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copan -MONDO:0014290 neurodegeneration with brain iron accumulation 6 Orphanet:397725 MONDO:equivalentTo COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation due to coasy mutation -MONDO:0014294 chromosome 15q11.2 deletion syndrome Orphanet:261183 MONDO:equivalentTo 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 15q11.2 bp1-bp2 microdeletion syndrome -MONDO:0014294 chromosome 15q11.2 deletion syndrome Orphanet:261183 MONDO:equivalentTo 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(15)(q11.2) -MONDO:0014294 chromosome 15q11.2 deletion syndrome Orphanet:261183 MONDO:equivalentTo 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 15q11.2 -MONDO:0014294 chromosome 15q11.2 deletion syndrome Orphanet:261183 MONDO:equivalentTo 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 15q11.2 microdeletion syndrome -MONDO:0014295 hereditary spastic paraplegia 57 Orphanet:431329 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraplegia due to partial tfg deficiency -MONDO:0014295 hereditary spastic paraplegia 57 Orphanet:431329 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 57 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 57 -MONDO:0014302 hereditary spastic paraplegia 62 Orphanet:401785 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 62 -MONDO:0014303 hereditary spastic paraplegia 64 Orphanet:401810 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 64 -MONDO:0014304 hereditary spastic paraplegia 61 Orphanet:401780 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 61 -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement Orphanet:221043 MONDO:equivalentTo Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poiktmp syndrome -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 Orphanet:404499 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 15 -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome Orphanet:401777 MONDO:equivalentTo Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bosch-boonstra-schaaf optic atrophy syndrome -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome Orphanet:401777 MONDO:equivalentTo Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy-intellectual disability syndrome -MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome Orphanet:401777 MONDO:equivalentTo Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bosch-boonstra-schaaf optic atrophy syndrome -MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse Orphanet:402003 MONDO:equivalentTo Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 Orphanet:412057 MONDO:equivalentTo Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia autosomal recessive type 16 -MONDO:0014353 immunodeficiency 23 Orphanet:443811 MONDO:equivalentTo PGM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to pgm3 deficiency -MONDO:0014353 immunodeficiency 23 Orphanet:443811 MONDO:equivalentTo PGM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to pgm3 deficiency -MONDO:0014353 immunodeficiency 23 Orphanet:443811 MONDO:equivalentTo PGM3-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pgm3-cdg -MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Orphanet:412069 MONDO:equivalentTo AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xia-gibbs syndrome -MONDO:0014371 developmental and epileptic encephalopathy, 23 Orphanet:411986 MONDO:equivalentTo Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome -MONDO:0014371 developmental and epileptic encephalopathy, 23 Orphanet:411986 MONDO:equivalentTo Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy Orphanet:329242 MONDO:equivalentTo Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital chronic diarrhea with exudative enteropathy -MONDO:0014375 congenital diarrhea 7 with exudative enteropathy Orphanet:329242 MONDO:equivalentTo Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital chronic diarrhea with protein-losing enteropathy -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 Orphanet:480483 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tjp2 deficit -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 Orphanet:480483 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive familial intrahepatic cholestasis type 4 -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome Orphanet:404443 MONDO:equivalentTo Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dnmt3a-related overgrowth syndrome -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome Orphanet:404443 MONDO:equivalentTo Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome -MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome Orphanet:404443 MONDO:equivalentTo Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tatton-brown-rahman overgrowth syndrome -MONDO:0014386 platelet-type bleeding disorder 18 Orphanet:420566 MONDO:equivalentTo Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency -MONDO:0014386 platelet-type bleeding disorder 18 Orphanet:420566 MONDO:equivalentTo Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bleeding disorder due to caldag-gefi deficiency -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency Orphanet:397937 MONDO:equivalentTo Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyglucosan body myopathy type 1 -MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome Orphanet:329191 MONDO:equivalentTo Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tall stature-scoliosis-macrodactyly of the halluces syndrome -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Orphanet:370022 MONDO:equivalentTo Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym poretti-boltshauser syndrome -MONDO:0014466 Neu-Laxova syndrome 2 Orphanet:583602 MONDO:equivalentTo Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoserine aminotransferase deficiency, prenatal form -MONDO:0014466 Neu-Laxova syndrome 2 Orphanet:583602 MONDO:equivalentTo Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neu-laxova syndrome due to phosphoserine aminotransferase deficiency -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D Orphanet:435998 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ri-cmt type d -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D Orphanet:435998 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive intermediate charcot-marie-tooth disease type d -MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U Orphanet:352479 MONDO:equivalentTo ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2u -MONDO:0014476 episodic ataxia type 8 Orphanet:401953 MONDO:equivalentTo Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym episodic ataxia type 8 -MONDO:0014476 episodic ataxia type 8 Orphanet:401953 MONDO:equivalentTo Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym episodic ataxia type 8 -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome Orphanet:420686 MONDO:equivalentTo Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratoderma with woolly hair type iv -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome Orphanet:420686 MONDO:equivalentTo Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kwwh type iv -MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome Orphanet:420686 MONDO:equivalentTo Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym woolly hair-palmoplantar hyperkeratosis syndrome -MONDO:0014498 familial cold autoinflammatory syndrome 4 Orphanet:576349 MONDO:equivalentTo NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome 4 -MONDO:0014498 familial cold autoinflammatory syndrome 4 Orphanet:576349 MONDO:equivalentTo NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nlrc4-related familial cold autoinflammatory syndrome -MONDO:0014498 familial cold autoinflammatory syndrome 4 Orphanet:576349 MONDO:equivalentTo NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome 4 -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 Orphanet:453521 MONDO:equivalentTo Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia autosomal recessive type 17 -MONDO:0014506 hypomyelinating leukodystrophy 9 Orphanet:438114 MONDO:equivalentTo RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rars-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S Orphanet:443073 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label charcot-marie-tooth disease type 2s -MONDO:0014518 platelet-type bleeding disorder 19 Orphanet:438207 MONDO:equivalentTo Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe autosomal recessive macrothrombocytopenia -MONDO:0014528 chronic atrial and intestinal dysrhythmia Orphanet:435988 MONDO:equivalentTo Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caid syndrome -MONDO:0014528 chronic atrial and intestinal dysrhythmia Orphanet:435988 MONDO:equivalentTo Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic atrial dysrhythmia-intestinal motility disorder -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 Orphanet:363432 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload Orphanet:88635 MONDO:equivalentTo Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy due to calsequestrin and serca1 protein overload -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay Orphanet:562528 MONDO:equivalentTo Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym clifahdd syndrome -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay Orphanet:562528 MONDO:equivalentTo Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital limbs-face contractures-hypotonia-developmental delay syndrome -MONDO:0014561 3-methylglutaconic aciduria, type VIIB Orphanet:445038 MONDO:equivalentTo 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome -MONDO:0014561 3-methylglutaconic aciduria, type VIIB Orphanet:445038 MONDO:equivalentTo 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-methylglutaconic aciduria type 7 -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U Orphanet:397735 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation -MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U Orphanet:397735 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2U semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2u -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency Orphanet:477673 MONDO:equivalentTo Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome -MONDO:0014568 hereditary spastic paraplegia 73 Orphanet:444099 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 73 -MONDO:0014572 Lichtenstein-Knorr syndrome Orphanet:448251 MONDO:equivalentTo Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lichtenstein-knorr syndrome -MONDO:0014572 Lichtenstein-Knorr syndrome Orphanet:448251 MONDO:equivalentTo Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive autosomal recessive ataxia-sensorineural hearing loss syndrome -MONDO:0014572 Lichtenstein-Knorr syndrome Orphanet:448251 MONDO:equivalentTo Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lichtenstein-knorr syndrome -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome Orphanet:444138 MONDO:equivalentTo Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym plack syndrome -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 Orphanet:397709 MONDO:equivalentTo Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 20 -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 Orphanet:397709 MONDO:equivalentTo Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Orphanet:468678 MONDO:equivalentTo White-Sutton syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Orphanet:468678 MONDO:equivalentTo White-Sutton syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Orphanet:444077 MONDO:equivalentTo Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chops syndrome -MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 Orphanet:457406 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 4 -MONDO:0014630 familial adenomatous polyposis 3 Orphanet:454840 MONDO:equivalentTo NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nthl1-related afap -MONDO:0014630 familial adenomatous polyposis 3 Orphanet:454840 MONDO:equivalentTo NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nthl1-related attenuated fap -MONDO:0014630 familial adenomatous polyposis 3 Orphanet:454840 MONDO:equivalentTo NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nthl1-related attenuated familial adenomatous polyposis -MONDO:0014647 developmental and epileptic encephalopathy, 50 Orphanet:448010 MONDO:equivalentTo CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type iz -MONDO:0014647 developmental and epileptic encephalopathy, 50 Orphanet:448010 MONDO:equivalentTo CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg syndrome type iz -MONDO:0014647 developmental and epileptic encephalopathy, 50 Orphanet:448010 MONDO:equivalentTo CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cdg-iz -MONDO:0014647 developmental and epileptic encephalopathy, 50 Orphanet:448010 MONDO:equivalentTo CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1z -MONDO:0014647 developmental and epileptic encephalopathy, 50 Orphanet:448010 MONDO:equivalentTo CAD-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cad-cdg -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome Orphanet:478664 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type viii -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome Orphanet:478664 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary sensory and autonomic neuropathy type 8 -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V Orphanet:447964 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V Orphanet:447964 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary adult-onset painful axonal polyneuropathy -MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V Orphanet:447964 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant charcot-marie-tooth disease type 2v +MONDO:0011208 malignant atrophic papulosis Orphanet:656071 MONDO:equivalentTo Atrophic papulosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym degos disease +MONDO:0011208 malignant atrophic papulosis Orphanet:656071 MONDO:equivalentTo Atrophic papulosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym köhlmeier-degos disease +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:530298 MONDO:equivalentTo Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early onset familial encephalopathy with neuroserpin inclusion bodies +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant Orphanet:530298 MONDO:equivalentTo Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive myoclonic epilepsy with neuroserpin inclusion bodies MONDO:0014700 Au-Kline syndrome Orphanet:2729 MONDO:equivalentTo Okamoto syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label okamoto syndrome -MONDO:0014700 Au-Kline syndrome Orphanet:453499 MONDO:equivalentTo Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym au-kline syndrome -MONDO:0014700 Au-Kline syndrome Orphanet:453499 MONDO:equivalentTo Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym au-kline syndrome -MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B Orphanet:447760 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ar-spg9b -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Orphanet:477831 MONDO:equivalentTo Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kosaki overgrowth syndrome -MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Orphanet:477831 MONDO:equivalentTo Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome -MONDO:0014708 ring chromosome 14 Orphanet:1440 MONDO:equivalentTo Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 14 -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X Orphanet:466775 MONDO:equivalentTo Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation -MONDO:0014729 hereditary spastic paraplegia 75 Orphanet:459056 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 75 -MONDO:0014732 hypomyelinating leukodystrophy 12 Orphanet:466934 MONDO:equivalentTo VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps11-related autosomal recessive hypomyelinating leukoencephalopathy -MONDO:0014733 Charcot-Marie-Tooth disease type 4K Orphanet:391351 MONDO:equivalentTo SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disease type 4k -MONDO:0014733 Charcot-Marie-Tooth disease type 4K Orphanet:391351 MONDO:equivalentTo SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym surf1-related cmt4 -MONDO:0014733 Charcot-Marie-Tooth disease type 4K Orphanet:391351 MONDO:equivalentTo SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym surf1-related severe demyelinating charcot-marie-tooth disease -MONDO:0014733 Charcot-Marie-Tooth disease type 4K Orphanet:391351 MONDO:equivalentTo SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label surf1-related charcot-marie-tooth disease type 4 -MONDO:0014733 Charcot-Marie-Tooth disease type 4K Orphanet:391351 MONDO:equivalentTo SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym charcot-marie-tooth disease type 4k -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y Orphanet:435387 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y Orphanet:435387 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt2 due to vcp mutation -MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z Orphanet:466768 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation Orphanet:466950 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to wac point mutation -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation Orphanet:466950 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome due to wac point mutation -MONDO:0014760 TFRC-related combined immunodeficiency Orphanet:476113 MONDO:equivalentTo Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency -MONDO:0014760 TFRC-related combined immunodeficiency Orphanet:476113 MONDO:equivalentTo Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency -MONDO:0014775 combined oxidative phosphorylation deficiency 28 Orphanet:466784 MONDO:equivalentTo Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined oxidative phosphorylation defect type 28 -MONDO:0014775 combined oxidative phosphorylation deficiency 28 Orphanet:466784 MONDO:equivalentTo Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal severe cardiopulmonary failure due to mitochondrial methylation defect -MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X Orphanet:476084 MONDO:equivalentTo BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome Orphanet:401866 MONDO:equivalentTo Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood-onset spasticity with variant non-ketotic hyperglycinemia -MONDO:0014803 spasticity-ataxia-gait anomalies syndrome Orphanet:401866 MONDO:equivalentTo Childhood-onset spasticity with hyperglycinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spasticity-ataxia-gait anomalies syndrome -MONDO:0014804 sideroblastic anemia 3 Orphanet:255132 MONDO:equivalentTo Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glrx5-related sideroblastic anemia -MONDO:0014804 sideroblastic anemia 3 Orphanet:255132 MONDO:equivalentTo Adult-onset autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset autosomal recessive sideroblastic anemia -MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Orphanet:488632 MONDO:equivalentTo TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tbck-related intellectual disability syndrome -MONDO:0014830 platelet-type bleeding disorder 20 Orphanet:466806 MONDO:equivalentTo Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant thrombocytopenia with platelet secretion defect -MONDO:0014832 intellectual disability, autosomal recessive 53 Orphanet:488635 MONDO:equivalentTo Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigg deficiency -MONDO:0014832 intellectual disability, autosomal recessive 53 Orphanet:488635 MONDO:equivalentTo Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigg-cdg -MONDO:0014832 intellectual disability, autosomal recessive 53 Orphanet:488635 MONDO:equivalentTo Early-onset epilepsy-intellectual disability-brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early-onset epilepsy-intellectual disability-brain anomalies syndrome -MONDO:0014837 thrombocytopenia 6 Orphanet:480851 MONDO:equivalentTo Hereditary thrombocytopenia with early-onset myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary thrombocytopenia with early-onset myelofibrosis -MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 Orphanet:404493 MONDO:equivalentTo Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia autosomal recessive type 23 -MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart Orphanet:494344 MONDO:equivalentTo RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rere-related neurodevelopmental syndrome -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T Orphanet:443950 MONDO:equivalentTo DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dnajb2-related cmt2 -MONDO:0014867 spinocerebellar ataxia 43 Orphanet:497764 MONDO:equivalentTo Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 43 -MONDO:0014875 hyperaldosteronism, familial, type IV Orphanet:642671 MONDO:equivalentTo Familial hyperaldosteronism type IV semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type iv -MONDO:0014877 myopathy, distal, 5 Orphanet:482601 MONDO:equivalentTo Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adssl1-related distal myopathy -MONDO:0014877 myopathy, distal, 5 Orphanet:482601 MONDO:equivalentTo Adenylosuccinate synthetase-like 1-related distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenylosuccinate synthetase-like 1-related distal myopathy -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 Orphanet:480476 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nr1h4 deficiency -MONDO:0014889 striatonigral degeneration, childhood-onset Orphanet:497906 MONDO:equivalentTo Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lenk-ploski syndrome -MONDO:0014889 striatonigral degeneration, childhood-onset Orphanet:497906 MONDO:equivalentTo Childhood-onset basal ganglia degeneration syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label childhood-onset basal ganglia degeneration syndrome -MONDO:0014890 PERCHING syndrome Orphanet:603684 MONDO:equivalentTo KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym perching syndrome -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Orphanet:329314 MONDO:equivalentTo Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset multiple mtdna deletion syndrome due to dguok deficiency -MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Orphanet:329314 MONDO:equivalentTo Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y Orphanet:424261 MONDO:equivalentTo TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive muscular dystrophy due to lap1b deficiency -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y Orphanet:424261 MONDO:equivalentTo TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y Orphanet:424261 MONDO:equivalentTo TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy with progressive weakness, distal contractures and rigid spine -MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y Orphanet:424261 MONDO:equivalentTo TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2y -MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 Orphanet:485421 MONDO:equivalentTo MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome -MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome -MONDO:0014914 Dias-Logan syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome -MONDO:0014920 patterned macular dystrophy 3 Orphanet:466718 MONDO:equivalentTo Martinique crinkled retinal pigment epitheliopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label martinique crinkled retinal pigment epitheliopathy -MONDO:0014936 ZTTK syndrome Orphanet:500150 MONDO:equivalentTo Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zttk syndrome -MONDO:0014936 ZTTK syndrome Orphanet:500150 MONDO:equivalentTo Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym zttk syndrome -MONDO:0014958 Harel-Yoon syndrome Orphanet:496790 MONDO:equivalentTo Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym harel-yoon syndrome -MONDO:0014958 Harel-Yoon syndrome Orphanet:496790 MONDO:equivalentTo Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym harel-yoon syndrome -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 Orphanet:480682 MONDO:equivalentTo POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive limb-girdle muscular dystrophy type 2z -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 Orphanet:480682 MONDO:equivalentTo POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2z -MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Orphanet:603494 MONDO:equivalentTo Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym commad syndrome -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 Orphanet:100019 MONDO:equivalentTo Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym raeb-1 -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 Orphanet:100020 MONDO:equivalentTo Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym raeb-2 -MONDO:0015047 amelogenesis imperfecta type 1 Orphanet:100031 MONDO:equivalentTo Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypoplastic amelogenesis imperfecta -MONDO:0015047 amelogenesis imperfecta type 1 Orphanet:100031 MONDO:equivalentTo Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta type 1 -MONDO:0015048 amelogenesis imperfecta type 2 Orphanet:100033 MONDO:equivalentTo Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypomaturation amelogenesis imperfecta -MONDO:0015048 amelogenesis imperfecta type 2 Orphanet:100033 MONDO:equivalentTo Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta type 2 -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100075 MONDO:equivalentTo Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric net -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100075 MONDO:equivalentTo Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric neuroendocrine tumor -MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100076 MONDO:equivalentTo Duodenal neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label duodenal neuroendocrine tumor -MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100077 MONDO:equivalentTo Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jejunal neuroendocrine neoplasm -MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:100078 MONDO:equivalentTo Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ileal neuroendocrine neoplasm -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade Orphanet:100079 MONDO:equivalentTo Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym appendiceal nen -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade Orphanet:100079 MONDO:equivalentTo Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym appendiceal neuroendocrine neoplasm -MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade Orphanet:100079 MONDO:equivalentTo Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nen of appendix -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor Orphanet:100080 MONDO:equivalentTo Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colonic net -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor Orphanet:100080 MONDO:equivalentTo Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the colon -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade Orphanet:100081 MONDO:equivalentTo Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumor -MONDO:0015069 neuroendocrine tumor of the anal canal Orphanet:100082 MONDO:equivalentTo Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of anal canal -MONDO:0015072 liver neuroendocrine carcinoma Orphanet:100085 MONDO:equivalentTo Primary hepatic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hepatic neuroendocrine carcinoma -MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 Orphanet:100086 MONDO:equivalentTo Gallbladder neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gallbladder neuroendocrine tumor -MONDO:0015091 autosomal dominant spastic paraplegia type 9 Orphanet:447753 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataracts-motor neuropathy-short stature-skeletal anomalies syndrome -MONDO:0015091 autosomal dominant spastic paraplegia type 9 Orphanet:447753 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome -MONDO:0015129 chronic primary adrenal insufficiency Orphanet:85138 MONDO:equivalentTo Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disease -MONDO:0015129 chronic primary adrenal insufficiency Orphanet:85138 MONDO:equivalentTo Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0015129 chronic primary adrenal insufficiency Orphanet:85138 MONDO:equivalentTo Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addison disease -MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant Orphanet:102014 MONDO:equivalentTo Autosomal dominant limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant limb-girdle muscular dystrophy -MONDO:0015157 human herpesvirus 8-related tumor Orphanet:102024 MONDO:equivalentTo Human herpesvirus 8-related disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hhv-8-related disorder -MONDO:0015167 amniotic band syndrome Orphanet:295000 MONDO:equivalentTo Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital ring constrictions -MONDO:0015167 amniotic band syndrome Orphanet:295000 MONDO:equivalentTo Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constriction band syndrome -MONDO:0015167 amniotic band syndrome Orphanet:295000 MONDO:equivalentTo Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym streeter dysplasia -MONDO:0015167 amniotic band syndrome Orphanet:295000 MONDO:equivalentTo Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constriction rings syndrome -MONDO:0015167 amniotic band syndrome Orphanet:295000 MONDO:equivalentTo Constriction rings syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amniotic band syndrome -MONDO:0015196 vein of Galen aneurysm Orphanet:1053 MONDO:equivalentTo Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vein of galen arteriovenous malformations -MONDO:0015199 aniridia - intellectual disability syndrome Orphanet:1068 MONDO:equivalentTo Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym walker-dyson syndrome -MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome Orphanet:1074 MONDO:equivalentTo Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aughton-hufnagle syndrome -MONDO:0015237 arrhinia Orphanet:1134 MONDO:equivalentTo Isolated arrhinia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nose agenesis -MONDO:0015240 digitotalar dysmorphism Orphanet:1146 MONDO:equivalentTo Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0015240 digitotalar dysmorphism Orphanet:1146 MONDO:equivalentTo Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 -MONDO:0015240 digitotalar dysmorphism Orphanet:1146 MONDO:equivalentTo Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism -MONDO:0015241 arthrogryposis-like syndrome Orphanet:1149 MONDO:equivalentTo Kuskokwim syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kuskokwim disease -MONDO:0015241 arthrogryposis-like syndrome Orphanet:1149 MONDO:equivalentTo Kuskokwim syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like syndrome -MONDO:0015249 mitral atresia disorder Orphanet:1205 MONDO:equivalentTo Mitral atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitral atresia -MONDO:0015265 bronchiolitis obliterans syndrome Orphanet:1303 MONDO:equivalentTo Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym constrictive bronchiolitis -MONDO:0015273 complete atrioventricular canal Orphanet:1329 MONDO:equivalentTo Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete atrioventricular septal defect -MONDO:0015273 complete atrioventricular canal Orphanet:1329 MONDO:equivalentTo Complete atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complete atrioventricular canal -MONDO:0015275 partial atrioventricular canal Orphanet:1330 MONDO:equivalentTo Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial atrioventricular canal defect -MONDO:0015277 medullary thyroid gland carcinoma Orphanet:1332 MONDO:equivalentTo Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medullary thyroid carcinoma -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss Orphanet:1349 MONDO:equivalentTo Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited cardiomyopathy and deafness -MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss Orphanet:1349 MONDO:equivalentTo Mitochondrial DNA-related cardiomyopathy and hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trna-lys-related cardiomyopathy-hearing loss syndrome -MONDO:0015337 isolated craniosynostosis Orphanet:139390 MONDO:equivalentTo Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated craniosynostosis -MONDO:0015340 drug rash with eosinophilia and systemic symptoms Orphanet:139402 MONDO:equivalentTo Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dress syndrome -MONDO:0015340 drug rash with eosinophilia and systemic symptoms Orphanet:139402 MONDO:equivalentTo Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym drug rash with eosinophilia and systemic symptoms -MONDO:0015356 hereditary neoplastic syndrome Orphanet:140162 MONDO:equivalentTo Inherited cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inherited cancer-predisposing syndrome -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant Orphanet:140465 MONDO:equivalentTo Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant dhmn -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant Orphanet:140465 MONDO:equivalentTo Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant distal spinal muscular atrophy -MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant Orphanet:140465 MONDO:equivalentTo Autosomal dominant distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant distal hereditary motor neuropathy -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive Orphanet:140468 MONDO:equivalentTo Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dhmn -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive Orphanet:140468 MONDO:equivalentTo Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive Orphanet:140468 MONDO:equivalentTo Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dsma -MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive Orphanet:140468 MONDO:equivalentTo Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive distal hereditary motor neuropathy -MONDO:0015374 primary central nervous system vasculitis Orphanet:140989 MONDO:equivalentTo Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated angiitis of the central nervous system -MONDO:0015374 primary central nervous system vasculitis Orphanet:140989 MONDO:equivalentTo Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary central nervous system vasculitis -MONDO:0015374 primary central nervous system vasculitis Orphanet:140989 MONDO:equivalentTo Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary vasculitis of the central nervous system -MONDO:0015374 primary central nervous system vasculitis Orphanet:140989 MONDO:equivalentTo Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary angiitis of the central nervous system -MONDO:0015374 primary central nervous system vasculitis Orphanet:140989 MONDO:equivalentTo Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary central nervous system vasculitis -MONDO:0015397 craniofacial microsomia 1 Orphanet:141132 MONDO:equivalentTo Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oav spectrum -MONDO:0015397 craniofacial microsomia 1 Orphanet:141132 MONDO:equivalentTo Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculoauriculovertebral spectrum -MONDO:0015397 craniofacial microsomia 1 Orphanet:141132 MONDO:equivalentTo Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oculo-auriculo-vertebral spectrum -MONDO:0015418 lateral facial cleft Orphanet:141276 MONDO:equivalentTo Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft -MONDO:0015418 lateral facial cleft Orphanet:141276 MONDO:equivalentTo Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tessier number 7 facial cleft -MONDO:0015426 Desbuquois dysplasia Orphanet:1425 MONDO:equivalentTo Desbuquois syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois dysplasia -MONDO:0015426 Desbuquois dysplasia Orphanet:1425 MONDO:equivalentTo Desbuquois syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label desbuquois syndrome -MONDO:0015426 Desbuquois dysplasia Orphanet:1425 MONDO:equivalentTo Desbuquois syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desbuquois dysplasia -MONDO:0015430 ring chromosome 1 Orphanet:1437 MONDO:equivalentTo Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(1) syndrome -MONDO:0015430 ring chromosome 1 Orphanet:1437 MONDO:equivalentTo Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring 1 -MONDO:0015430 ring chromosome 1 Orphanet:1437 MONDO:equivalentTo Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 1 -MONDO:0015431 ring chromosome 10 Orphanet:1438 MONDO:equivalentTo Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 10 -MONDO:0015432 ring chromosome 12 Orphanet:1439 MONDO:equivalentTo Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 12 -MONDO:0015433 ring chromosome 17 Orphanet:1441 MONDO:equivalentTo Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 17 -MONDO:0015434 ring chromosome 18 Orphanet:1442 MONDO:equivalentTo Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 18 -MONDO:0015435 ring chromosome 19 Orphanet:1443 MONDO:equivalentTo Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 19 -MONDO:0015436 ring chromosome 20 Orphanet:1444 MONDO:equivalentTo Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 20 -MONDO:0015438 ring chromosome 22 Orphanet:1446 MONDO:equivalentTo Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(22) syndrome -MONDO:0015438 ring chromosome 22 Orphanet:1446 MONDO:equivalentTo Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 22 -MONDO:0015439 ring chromosome 4 Orphanet:1447 MONDO:equivalentTo Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(4) syndrome -MONDO:0015439 ring chromosome 4 Orphanet:1447 MONDO:equivalentTo Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndrome r(4) -MONDO:0015439 ring chromosome 4 Orphanet:1447 MONDO:equivalentTo Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 4 -MONDO:0015440 ring chromosome 6 Orphanet:1448 MONDO:equivalentTo Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 6 -MONDO:0015441 ring chromosome 7 Orphanet:1449 MONDO:equivalentTo Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 7 -MONDO:0015443 chromosome 8-derived supernumerary ring/marker Orphanet:1450 MONDO:equivalentTo Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(8) syndrome -MONDO:0015443 chromosome 8-derived supernumerary ring/marker Orphanet:1450 MONDO:equivalentTo Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring 8 -MONDO:0015443 chromosome 8-derived supernumerary ring/marker Orphanet:1450 MONDO:equivalentTo Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring chromosome 8 -MONDO:0015448 mitochondrial complex III deficiency Orphanet:1460 MONDO:equivalentTo Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated coenzyme q-cytochrome c reductase deficiency -MONDO:0015448 mitochondrial complex III deficiency Orphanet:1460 MONDO:equivalentTo Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated coq-cytochrome c reductase deficiency -MONDO:0015448 mitochondrial complex III deficiency Orphanet:1460 MONDO:equivalentTo Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex iii deficiency -MONDO:0015448 mitochondrial complex III deficiency Orphanet:1460 MONDO:equivalentTo Isolated complex III deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated ubiquinone-cytochrome c reductase deficiency -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome Orphanet:1514 MONDO:equivalentTo Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scott craniodigital syndrome -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome Orphanet:1514 MONDO:equivalentTo Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scott-bryant-graham syndrome -MONDO:0015487 fatal infantile encephalocardiomyopathy Orphanet:1561 MONDO:equivalentTo Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency -MONDO:0015487 fatal infantile encephalocardiomyopathy Orphanet:1561 MONDO:equivalentTo Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal infantile cox deficiency -MONDO:0015514 hereditary endocrine growth disease Orphanet:156643 MONDO:equivalentTo Genetic endocrine growth disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic endocrine growth disease -MONDO:0015524 hyperplastic polyposis syndrome Orphanet:157798 MONDO:equivalentTo Serrated polyposis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperplastic polyposis syndrome -MONDO:0015538 indeterminate dendritic cell tumor Orphanet:158019 MONDO:equivalentTo Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indeterminate dendritic cell tumor -MONDO:0015538 indeterminate dendritic cell tumor Orphanet:158019 MONDO:equivalentTo Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indeterminate cell histiocytosis -MONDO:0015538 indeterminate dendritic cell tumor Orphanet:158019 MONDO:equivalentTo Indeterminate cell histiocytosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym indeterminate dendritic cell tumor -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis Orphanet:158038 MONDO:equivalentTo Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic hemophagocytic lymphohistiocytosis -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis Orphanet:158038 MONDO:equivalentTo Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary hemophagocytic lymphohistiocytosis -MONDO:0015541 hereditary hemophagocytic lymphohistiocytosis Orphanet:540 MONDO:equivalentTo Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hemophagocytic lymphohistiocytosis -MONDO:0015546 non-distal monosomy 10q Orphanet:1581 MONDO:equivalentTo Non-distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric monosomy 10q -MONDO:0015546 non-distal monosomy 10q Orphanet:1581 MONDO:equivalentTo Non-distal deletion 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal deletion 10q -MONDO:0015546 non-distal monosomy 10q Orphanet:1581 MONDO:equivalentTo Non-distal deletion 10q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal monosomy 10q -MONDO:0015547 hereditary dementia Orphanet:158124 MONDO:equivalentTo Genetic dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic dementia -MONDO:0015562 distal monosomy 17q Orphanet:1597 MONDO:equivalentTo Distal deletion 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17qter -MONDO:0015562 distal monosomy 17q Orphanet:1597 MONDO:equivalentTo Distal deletion 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 17q -MONDO:0015562 distal monosomy 17q Orphanet:1597 MONDO:equivalentTo Distal deletion 17q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 17q -MONDO:0015605 distal monosomy 9p Orphanet:1642 MONDO:equivalentTo Distal deletion 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 9pter -MONDO:0015605 distal monosomy 9p Orphanet:1642 MONDO:equivalentTo Distal deletion 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 9p -MONDO:0015605 distal monosomy 9p Orphanet:1642 MONDO:equivalentTo Distal deletion 9p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 9p -MONDO:0015605 distal monosomy 9p Orphanet:1642 MONDO:equivalentTo Distal deletion 9p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 9p -MONDO:0015609 advanced sleep phase syndrome Orphanet:164736 MONDO:equivalentTo Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial advanced sleep-phase syndrome -MONDO:0015626 Charcot-Marie-Tooth disease Orphanet:166 MONDO:equivalentTo Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth hereditary neuropathy -MONDO:0015626 Charcot-Marie-Tooth disease Orphanet:166 MONDO:equivalentTo Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmt/hmsn -MONDO:0015645 eating seizures Orphanet:166418 MONDO:equivalentTo Eating reflex epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eating epilepsy -MONDO:0015645 eating seizures Orphanet:166418 MONDO:equivalentTo Eating reflex epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym eating seizures -MONDO:0015653 monogenic epilepsy Orphanet:166472 MONDO:equivalentTo Monogenic disease with epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic disease with epilepsy -MONDO:0015667 acute myeloid leukemia by FAB classification Orphanet:167714 MONDO:equivalentTo Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym unclassified aml -MONDO:0015667 acute myeloid leukemia by FAB classification Orphanet:167714 MONDO:equivalentTo Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label unclassified acute myeloid leukemia -MONDO:0015712 non-distal trisomy 10q Orphanet:1695 MONDO:equivalentTo Non-distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric trisomy 10q -MONDO:0015712 non-distal trisomy 10q Orphanet:1695 MONDO:equivalentTo Non-distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal duplication 10q -MONDO:0015712 non-distal trisomy 10q Orphanet:1695 MONDO:equivalentTo Non-distal duplication 10q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal trisomy 10q -MONDO:0015724 non-distal trisomy 13q Orphanet:1702 MONDO:equivalentTo Non-distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric trisomy 13q -MONDO:0015724 non-distal trisomy 13q Orphanet:1702 MONDO:equivalentTo Non-distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal duplication 13q -MONDO:0015724 non-distal trisomy 13q Orphanet:1702 MONDO:equivalentTo Non-distal duplication 13q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal trisomy 13q -MONDO:0015726 distal trisomy 14q Orphanet:1705 MONDO:equivalentTo Distal duplication 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 14q -MONDO:0015726 distal trisomy 14q Orphanet:1705 MONDO:equivalentTo Distal duplication 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 14qter -MONDO:0015726 distal trisomy 14q Orphanet:1705 MONDO:equivalentTo Distal duplication 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 14q -MONDO:0015728 distal trisomy 15q Orphanet:1707 MONDO:equivalentTo Distal duplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 15q -MONDO:0015728 distal trisomy 15q Orphanet:1707 MONDO:equivalentTo Distal duplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 15qter -MONDO:0015728 distal trisomy 15q Orphanet:1707 MONDO:equivalentTo Distal duplication 15q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 15q -MONDO:0015728 distal trisomy 15q Orphanet:1707 MONDO:equivalentTo Distal duplication 15q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 15q -MONDO:0015741 distal trisomy 18q Orphanet:1716 MONDO:equivalentTo Distal duplication 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 18q -MONDO:0015741 distal trisomy 18q Orphanet:1716 MONDO:equivalentTo Distal duplication 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 18qter -MONDO:0015741 distal trisomy 18q Orphanet:1716 MONDO:equivalentTo Distal duplication 18q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 18q -MONDO:0015741 distal trisomy 18q Orphanet:1716 MONDO:equivalentTo Distal duplication 18q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 18q -MONDO:0015744 distal trisomy 19q Orphanet:1717 MONDO:equivalentTo Distal duplication 19q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 19q -MONDO:0015744 distal trisomy 19q Orphanet:1717 MONDO:equivalentTo Distal duplication 19q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 19qter -MONDO:0015744 distal trisomy 19q Orphanet:1717 MONDO:equivalentTo Distal duplication 19q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 19q -MONDO:0015744 distal trisomy 19q Orphanet:1717 MONDO:equivalentTo Distal duplication 19q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 19q -MONDO:0015748 hereditary mucosal leukokeratosis Orphanet:171723 MONDO:equivalentTo White sponge nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary mucosal leukokeratosis -MONDO:0015748 hereditary mucosal leukokeratosis Orphanet:171723 MONDO:equivalentTo White sponge nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon -MONDO:0015748 hereditary mucosal leukokeratosis Orphanet:171723 MONDO:equivalentTo White sponge nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label white sponge nevus -MONDO:0015748 hereditary mucosal leukokeratosis Orphanet:171723 MONDO:equivalentTo White sponge nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary mucosal leukokeratosis -MONDO:0015749 6q16 deletion syndrome Orphanet:171829 MONDO:equivalentTo 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(6)(q16) -MONDO:0015749 6q16 deletion syndrome Orphanet:171829 MONDO:equivalentTo 6q16 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 6q16 -MONDO:0015769 distal trisomy 6p Orphanet:1745 MONDO:equivalentTo Distal duplication 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 6p -MONDO:0015769 distal trisomy 6p Orphanet:1745 MONDO:equivalentTo Distal duplication 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 6pter -MONDO:0015769 distal trisomy 6p Orphanet:1745 MONDO:equivalentTo Distal duplication 6p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 6p -MONDO:0015769 distal trisomy 6p Orphanet:1745 MONDO:equivalentTo Distal duplication 6p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 6p -MONDO:0015830 partial bilateral aplasia of the mullerian ducts Orphanet:180068 MONDO:equivalentTo Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete bilateral aplasia of the müllerian ducts -MONDO:0015831 unilateral aplasia of the mullerian ducts Orphanet:180071 MONDO:equivalentTo Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym unicornuate uterus -MONDO:0015900 hypoaldosteronism disease Orphanet:181419 MONDO:equivalentTo Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare hypoaldosteronism -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Orphanet:182050 MONDO:equivalentTo MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-rd -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Orphanet:182050 MONDO:equivalentTo MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-related disorder -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Orphanet:182050 MONDO:equivalentTo MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-related syndrome -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Orphanet:182050 MONDO:equivalentTo MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myh9-related syndromic thrombocytopenia -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Orphanet:182050 MONDO:equivalentTo MYH9-related disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myh9-related disease -MONDO:0015951 hereditary photodermatosis Orphanet:183490 MONDO:equivalentTo Genetic photodermatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic skin photosensitivity -MONDO:0015961 hereditary head and neck malformation Orphanet:183583 MONDO:equivalentTo Genetic head and neck malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic head and neck malformation -MONDO:0015967 monogenic diabetes Orphanet:183625 MONDO:equivalentTo Rare genetic diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare genetic diabetes mellitus -MONDO:0015979 hereditary predisposition to infections Orphanet:183710 MONDO:equivalentTo Genetic susceptibility to infections due to particular pathogens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic susceptibility to infections due to particular pathogens -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 Orphanet:1900 MONDO:equivalentTo Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency -MONDO:0016010 vitamin K-antagonist embryofetopathy Orphanet:1914 MONDO:equivalentTo Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym di sala syndrome -MONDO:0016010 vitamin K-antagonist embryofetopathy Orphanet:1914 MONDO:equivalentTo Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin k antagonist embryopathy -MONDO:0016010 vitamin K-antagonist embryofetopathy Orphanet:1914 MONDO:equivalentTo Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warfarin embryofetopathy -MONDO:0016010 vitamin K-antagonist embryofetopathy Orphanet:1914 MONDO:equivalentTo Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warfarin embryopathy -MONDO:0016027 benign neonatal seizures Orphanet:1949 MONDO:equivalentTo Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal convulsions -MONDO:0016027 benign neonatal seizures Orphanet:1949 MONDO:equivalentTo Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal seizures -MONDO:0016038 calcified aponeurotic fibroma Orphanet:199260 MONDO:equivalentTo Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile aponeurotic fibromatosis -MONDO:0016038 calcified aponeurotic fibroma Orphanet:199260 MONDO:equivalentTo Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keasby tumor -MONDO:0016056 isolated congenital microcephaly Orphanet:2512 MONDO:equivalentTo Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym true microcephaly -MONDO:0016062 median cleft lip/mandibule Orphanet:2006 MONDO:equivalentTo Median cleft lip/mandible semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median cleft lower facial stage -MONDO:0016063 Cowden disease Orphanet:201 MONDO:equivalentTo Cowden syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cowden disease -MONDO:0016063 Cowden disease Orphanet:201 MONDO:equivalentTo Cowden syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple hamartoma syndrome -MONDO:0016063 Cowden disease Orphanet:201 MONDO:equivalentTo Cowden syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cowden syndrome -MONDO:0016063 Cowden disease Orphanet:201 MONDO:equivalentTo Cowden syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cowden disease -MONDO:0016073 syndromic microphthalmia Orphanet:202948 MONDO:equivalentTo Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia -MONDO:0016073 syndromic microphthalmia Orphanet:202948 MONDO:equivalentTo Syndromic microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym syndromic microphthalmia -MONDO:0016086 osteochondritis of tarsal/metatarsal bone Orphanet:563991 MONDO:equivalentTo Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aseptic necrosis of the tarsal bone -MONDO:0016086 osteochondritis of tarsal/metatarsal bone Orphanet:563991 MONDO:equivalentTo Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kohler disease -MONDO:0016086 osteochondritis of tarsal/metatarsal bone Orphanet:563991 MONDO:equivalentTo Osteochondrosis of the tarsal bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteochondrosis of the tarsal bone -MONDO:0016092 serous or mucinous cystadenoma of childhood Orphanet:563666 MONDO:equivalentTo Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenoma of ovary in childhood -MONDO:0016092 serous or mucinous cystadenoma of childhood Orphanet:563671 MONDO:equivalentTo Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucinous cystadenoma of ovary in childhood -MONDO:0016094 vaginal germ cell malignant tumor Orphanet:206489 MONDO:equivalentTo Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vaginal germ cell cancer -MONDO:0016094 vaginal germ cell malignant tumor Orphanet:206489 MONDO:equivalentTo Malignant germ cell tumor of the vagina semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vaginal germ cell malignant tumor -MONDO:0016112 hereditary inclusion-body myopathy Orphanet:206662 MONDO:equivalentTo Inclusion myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inclusion myopathy -MONDO:0016140 sarcoglycanopathy Orphanet:207052 MONDO:equivalentTo Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label qualitative or quantitative defects of sarcoglycan -MONDO:0016140 sarcoglycanopathy Orphanet:207052 MONDO:equivalentTo Qualitative or quantitative defects of sarcoglycan semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoglycanopathy -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan Orphanet:62 MONDO:equivalentTo Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-sarcoglycanopathy -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan Orphanet:119 MONDO:equivalentTo Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-sarcoglycanopathy -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan Orphanet:219 MONDO:equivalentTo Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-sarcoglycanopathy -MONDO:0016146 caveolinopathy Orphanet:207078 MONDO:equivalentTo Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label qualitative or quantitative defects of caveolin-3 -MONDO:0016146 caveolinopathy Orphanet:207078 MONDO:equivalentTo Qualitative or quantitative defects of caveolin-3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caveolinopathy -MONDO:0016158 narcolepsy-cataplexy syndrome Orphanet:2073 MONDO:equivalentTo Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gélineau disease -MONDO:0016163 autosomal dominant cerebellar ataxia type II Orphanet:94147 MONDO:equivalentTo Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia with pigmentary retinopathy -MONDO:0016163 autosomal dominant cerebellar ataxia type II Orphanet:94147 MONDO:equivalentTo Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar syndrome-pigmentary maculopathy syndrome -MONDO:0016163 autosomal dominant cerebellar ataxia type II Orphanet:94147 MONDO:equivalentTo Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 7 -MONDO:0016165 hereditary hypoparathyroidism Orphanet:208593 MONDO:equivalentTo Genetic hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hypoparathyroidism -MONDO:0016166 hereditary hyperparathyroidism Orphanet:208596 MONDO:equivalentTo Genetic hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hyperparathyroidism -MONDO:0016215 spastic quadriplegic cerebral palsy Orphanet:210141 MONDO:equivalentTo Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inherited congenital spastic quadriplegia -MONDO:0016217 mal de Debarquement Orphanet:210272 MONDO:equivalentTo Mal de débarquement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disembarkment syndrome -MONDO:0016217 mal de Debarquement Orphanet:210272 MONDO:equivalentTo Mal de débarquement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mdds -MONDO:0016217 mal de Debarquement Orphanet:210272 MONDO:equivalentTo Mal de débarquement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sickness of disembarkment -MONDO:0016218 Guillain-Barre syndrome Orphanet:2103 MONDO:equivalentTo Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guillain-barré-strohl syndrome -MONDO:0016218 Guillain-Barre syndrome Orphanet:2103 MONDO:equivalentTo Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label guillain-barré syndrome -MONDO:0016241 alternating hemiplegia of childhood Orphanet:595337 MONDO:equivalentTo Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia -MONDO:0016241 alternating hemiplegia of childhood Orphanet:595337 MONDO:equivalentTo Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita -MONDO:0016244 atypical hemolytic-uremic syndrome Orphanet:2134 MONDO:equivalentTo Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ahus -MONDO:0016244 atypical hemolytic-uremic syndrome Orphanet:2134 MONDO:equivalentTo Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hus -MONDO:0016244 atypical hemolytic-uremic syndrome Orphanet:2134 MONDO:equivalentTo Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical hemolytic uremic syndrome -MONDO:0016273 malignant germ cell tumor of corpus uteri Orphanet:213751 MONDO:equivalentTo Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germ cell cancer of the corpus uteri -MONDO:0016281 46,XX ovotesticular disorder of sex development Orphanet:2138 MONDO:equivalentTo 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx ovotesticular dsd -MONDO:0016281 46,XX ovotesticular disorder of sex development Orphanet:2138 MONDO:equivalentTo 46,XX ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx ovotesticular disorder of sex development -MONDO:0016289 malignant germ cell tumor of cervix uteri Orphanet:213837 MONDO:equivalentTo Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical germ cell cancer -MONDO:0016289 malignant germ cell tumor of cervix uteri Orphanet:213837 MONDO:equivalentTo Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cervical malignant germ cell tumor -MONDO:0016289 malignant germ cell tumor of cervix uteri Orphanet:213837 MONDO:equivalentTo Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germ cell cancer of the cervix uteri -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis Orphanet:217399 MONDO:equivalentTo Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital absence of pain with hyperhidrosis -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis Orphanet:217399 MONDO:equivalentTo Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital analgesia with hyperhidrosis -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis Orphanet:217399 MONDO:equivalentTo Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital indifference to pain with hyperhidrosis -MONDO:0016319 congenital insensitivity to pain with hyperhidrosis Orphanet:217399 MONDO:equivalentTo Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital insensitivity to pain with hyperhidrosis -MONDO:0016390 familial hypoparathyroidism Orphanet:2238 MONDO:equivalentTo Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial isolated hypoparathyroidism -MONDO:0016419 hereditary breast carcinoma Orphanet:227535 MONDO:equivalentTo Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial breast cancer -MONDO:0016419 hereditary breast carcinoma Orphanet:227535 MONDO:equivalentTo Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial breast carcinoma -MONDO:0016419 hereditary breast carcinoma Orphanet:227535 MONDO:equivalentTo Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary breast carcinoma -MONDO:0016419 hereditary breast carcinoma Orphanet:227535 MONDO:equivalentTo Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary breast cancer -MONDO:0016419 hereditary breast carcinoma Orphanet:227535 MONDO:equivalentTo Hereditary breast cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary breast carcinoma -MONDO:0016430 Balo concentric sclerosis Orphanet:228165 MONDO:equivalentTo Baló concentric sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym concentric demyelination -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome Orphanet:2282 MONDO:equivalentTo Dysmorphism-short stature-deafness-difference of sex development syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dysmorphism-short stature-deafness-disorder of sex development syndrome -MONDO:0016438 linear focal dermal elastosis Orphanet:228236 MONDO:equivalentTo Linear focal elastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elastotic striae -MONDO:0016438 linear focal dermal elastosis Orphanet:228236 MONDO:equivalentTo Linear focal elastosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym linear focal dermal elastosis -MONDO:0016466 asbestosis Orphanet:2302 MONDO:equivalentTo Asbestos intoxication semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym asbestosis -MONDO:0016466 asbestosis Orphanet:2302 MONDO:equivalentTo Asbestos intoxication semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asbestosis -MONDO:0016473 familial rhabdoid tumor Orphanet:231108 MONDO:equivalentTo Rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rhabdoid tumor predisposition syndrome -MONDO:0016483 intracranial berry aneurysm Orphanet:231160 MONDO:equivalentTo Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial berry aneurysm -MONDO:0016483 intracranial berry aneurysm Orphanet:231160 MONDO:equivalentTo Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intracranial saccular aneurysm -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Orphanet:231426 MONDO:equivalentTo Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcb variant of gbs -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Orphanet:231426 MONDO:equivalentTo Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pcb variant of guillain-barré syndrome -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Orphanet:231426 MONDO:equivalentTo Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngeal-cervical-brachial weakness -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Orphanet:231426 MONDO:equivalentTo Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngo-cervico-brachial variant of gbs -MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome Orphanet:231426 MONDO:equivalentTo Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pharyngo-cervico-brachial variant of guillain-barré syndrome -MONDO:0016497 paraparetic variant of Guillain-Barre syndrome Orphanet:231445 MONDO:equivalentTo Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paraparetic variant of gbs -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis Orphanet:231500 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hps with pulmonary fibrosis -MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis Orphanet:231500 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hermansky-pudlak syndrome with pulmonary fibrosis -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis Orphanet:231512 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hps without pulmonary fibrosis -MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis Orphanet:231512 MONDO:equivalentTo Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hermansky-pudlak syndrome without pulmonary fibrosis -MONDO:0016505 aldosterone-producing adrenal cortex adenoma Orphanet:231625 MONDO:equivalentTo Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure aldosterone-producing adrenocortical carcinoma -MONDO:0016505 aldosterone-producing adrenal cortex adenoma Orphanet:231625 MONDO:equivalentTo Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure aldosterone-secreting adrenocortical carcinoma -MONDO:0016505 aldosterone-producing adrenal cortex adenoma Orphanet:231625 MONDO:equivalentTo Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure apac -MONDO:0016525 familial hyperaldosteronism Orphanet:371861 MONDO:equivalentTo Genetic hyperaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hyperaldosteronism -MONDO:0016526 trisomy 9p Orphanet:262767 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 9p -MONDO:0016526 trisomy 9p Orphanet:262767 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of the short arm of chromosome 9 -MONDO:0016526 trisomy 9p Orphanet:262767 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 9p -MONDO:0016533 apolipoprotein A-II amyloidosis Orphanet:238269 MONDO:equivalentTo AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial amyloid nephropathy due to apolipoprotein a-ii variant -MONDO:0016533 apolipoprotein A-II amyloidosis Orphanet:238269 MONDO:equivalentTo AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial renal amyloidosis due to apolipoprotein a-ii variant -MONDO:0016533 apolipoprotein A-II amyloidosis Orphanet:238269 MONDO:equivalentTo AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary amyloid nephropathy due to apolipoprotein a-ii variant -MONDO:0016533 apolipoprotein A-II amyloidosis Orphanet:238269 MONDO:equivalentTo AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal amyloidosis due to apolipoprotein a-ii variant -MONDO:0016533 apolipoprotein A-II amyloidosis Orphanet:238269 MONDO:equivalentTo AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aapoaii amyloidosis -MONDO:0016533 apolipoprotein A-II amyloidosis Orphanet:238269 MONDO:equivalentTo AApoAII amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-ii amyloidosis -MONDO:0016576 split hand-foot malformation Orphanet:2440 MONDO:equivalentTo Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectrodactyly -MONDO:0016576 split hand-foot malformation Orphanet:2440 MONDO:equivalentTo Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split hand foot malformation -MONDO:0016601 adult-onset citrullinemia type I Orphanet:247573 MONDO:equivalentTo Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym late-onset citrullinemia type 1 -MONDO:0016601 adult-onset citrullinemia type I Orphanet:247573 MONDO:equivalentTo Late-onset citrullinemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label late-onset citrullinemia type i -MONDO:0016620 primary hypertrophic osteoarthropathy Orphanet:2796 MONDO:equivalentTo Pachydermoperiostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome -MONDO:0016620 primary hypertrophic osteoarthropathy Orphanet:2796 MONDO:equivalentTo Pachydermoperiostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pachydermoperiostosis -MONDO:0016625 acquired deficiency anemia Orphanet:248302 MONDO:equivalentTo Rare acquired deficiency anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare acquired deficiency anemia -MONDO:0016639 lower limb deficiency-hypospadias syndrome Orphanet:2487 MONDO:equivalentTo Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fried-goldberg-mundel syndrome -MONDO:0016641 limb transversal defect-cardiac anomaly syndrome Orphanet:2492 MONDO:equivalentTo FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hecht-scott syndrome -MONDO:0016649 Warburg micro syndrome Orphanet:2510 MONDO:equivalentTo Micro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warburg micro syndrome -MONDO:0016649 Warburg micro syndrome Orphanet:2510 MONDO:equivalentTo Micro syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label micro syndrome -MONDO:0016649 Warburg micro syndrome Orphanet:2510 MONDO:equivalentTo Micro syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym warburg micro syndrome -MONDO:0016653 2q33.1 microdeletion syndrome Orphanet:251028 MONDO:equivalentTo SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(2)(q33.1) -MONDO:0016653 2q33.1 microdeletion syndrome Orphanet:251028 MONDO:equivalentTo SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 2q33.1 -MONDO:0016653 2q33.1 microdeletion syndrome Orphanet:251028 MONDO:equivalentTo SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 2q33.1 microdeletion syndrome -MONDO:0016654 ring chromosome 5 Orphanet:251043 MONDO:equivalentTo Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 5 -MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type Orphanet:251393 MONDO:equivalentTo Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-nh loc -MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome Orphanet:251523 MONDO:equivalentTo Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperzincemia and hypercalprotectinemia -MONDO:0016706 chordoid glioma of the third ventricle Orphanet:251674 MONDO:equivalentTo Chordoid glioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chordoid glioma -MONDO:0016717 choroid plexus neoplasm Orphanet:251896 MONDO:equivalentTo Choroid plexus tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choroid plexus tumor -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule Orphanet:251975 MONDO:equivalentTo Rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor -MONDO:0016751 malignant perineurioma Orphanet:252128 MONDO:equivalentTo Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant peripheral nerve sheath tumor with perineurial differentiation -MONDO:0016751 malignant perineurioma Orphanet:252128 MONDO:equivalentTo Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant perineurioma -MONDO:0016764 isolated anophthalmia-microphthalmia syndrome Orphanet:2542 MONDO:equivalentTo Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated anophthalmia-microphthalmia syndrome -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Orphanet:254519 MONDO:equivalentTo Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kagami-ogata syndrome -MONDO:0016780 paternal 14q32.2 microdeletion syndrome Orphanet:254525 MONDO:equivalentTo Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paternal del(14)(q32.2) -MONDO:0016781 maternal 14q32.2 microdeletion syndrome Orphanet:254528 MONDO:equivalentTo Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternal del(14)(q32.2) -MONDO:0016781 maternal 14q32.2 microdeletion syndrome Orphanet:254528 MONDO:equivalentTo Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternal monosomy 14q32.2 -MONDO:0016806 maternally-inherited mitochondrial dystonia Orphanet:254851 MONDO:equivalentTo Mitochondrial DNA-related dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maternally-inherited mitochondrial dystonia -MONDO:0016814 maternally-inherited Leigh syndrome Orphanet:255210 MONDO:equivalentTo Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited infantile subacute necrotizing encephalopathy -MONDO:0016814 maternally-inherited Leigh syndrome Orphanet:255210 MONDO:equivalentTo Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited leigh disease -MONDO:0016817 Meier-Gorlin syndrome Orphanet:2554 MONDO:equivalentTo Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome -MONDO:0016817 Meier-Gorlin syndrome Orphanet:2554 MONDO:equivalentTo Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ear-patella-short stature syndrome -MONDO:0016817 Meier-Gorlin syndrome Orphanet:2554 MONDO:equivalentTo Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome -MONDO:0016826 methylmalonic aciduria and homocystinuria Orphanet:26 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined defect in adenosylcobalamin and methylcobalamin synthesis -MONDO:0016826 methylmalonic aciduria and homocystinuria Orphanet:26 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methylmalonic aciduria with homocystinuria -MONDO:0016833 14q12 microdeletion syndrome Orphanet:261144 MONDO:equivalentTo FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(14)(q12) -MONDO:0016833 14q12 microdeletion syndrome Orphanet:261144 MONDO:equivalentTo FOXG1 syndrome due to 14q12 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 14q12 -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 Orphanet:261501 MONDO:equivalentTo Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical norrie disease due to del(x)(p11.3) -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 Orphanet:261501 MONDO:equivalentTo Atypical Norrie disease due to Xp11.3 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical norrie disease due to xp11.3 microdeletion -MONDO:0016853 ring chromosome Y Orphanet:261529 MONDO:equivalentTo Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(y) -MONDO:0016853 ring chromosome Y Orphanet:261529 MONDO:equivalentTo Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome y -MONDO:0016898 partial monosomy of the short arm of chromosome 20 Orphanet:261992 MONDO:equivalentTo Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 20p -MONDO:0016898 partial monosomy of the short arm of chromosome 20 Orphanet:261992 MONDO:equivalentTo Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 20p -MONDO:0016898 partial monosomy of the short arm of chromosome 20 Orphanet:261992 MONDO:equivalentTo Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pure partial 20p deletion -MONDO:0016898 partial monosomy of the short arm of chromosome 20 Orphanet:261992 MONDO:equivalentTo Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 20 -MONDO:0016898 partial monosomy of the short arm of chromosome 20 Orphanet:261992 MONDO:equivalentTo Partial deletion of the short arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the short arm of chromosome 20 -MONDO:0016908 partial monosomy of the long arm of chromosome 9 Orphanet:262074 MONDO:equivalentTo Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 9q -MONDO:0016908 partial monosomy of the long arm of chromosome 9 Orphanet:262074 MONDO:equivalentTo Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 9q -MONDO:0016908 partial monosomy of the long arm of chromosome 9 Orphanet:262074 MONDO:equivalentTo Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 9 -MONDO:0016908 partial monosomy of the long arm of chromosome 9 Orphanet:262074 MONDO:equivalentTo Partial deletion of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the long arm of chromosome 9 -MONDO:0016909 partial monosomy of the long arm of chromosome 10 Orphanet:262083 MONDO:equivalentTo Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 10q -MONDO:0016909 partial monosomy of the long arm of chromosome 10 Orphanet:262083 MONDO:equivalentTo Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 10q -MONDO:0016909 partial monosomy of the long arm of chromosome 10 Orphanet:262083 MONDO:equivalentTo Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 10 -MONDO:0016909 partial monosomy of the long arm of chromosome 10 Orphanet:262083 MONDO:equivalentTo Partial deletion of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the long arm of chromosome 10 -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 Orphanet:262211 MONDO:equivalentTo Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of chromosome 5 -MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 Orphanet:262211 MONDO:equivalentTo Partial duplication/triplication of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 5 -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 Orphanet:262643 MONDO:equivalentTo Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of chromosome 9 -MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 Orphanet:262643 MONDO:equivalentTo Partial duplication/triplication of chromosome 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 9 -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 Orphanet:262658 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication/triplication of chromosome 12p -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 Orphanet:262658 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 12p -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 Orphanet:262658 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of the short arm of chromosome 12 -MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 Orphanet:262658 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of the short arm of chromosome 12 -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 Orphanet:262682 MONDO:equivalentTo Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of chromosome 18 -MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 Orphanet:262682 MONDO:equivalentTo Partial duplication/triplication of chromosome 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 18 -MONDO:0016938 partial trisomy of chromosome 20 Orphanet:262692 MONDO:equivalentTo Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of chromosome 20 -MONDO:0016938 partial trisomy of chromosome 20 Orphanet:262692 MONDO:equivalentTo Partial duplication of chromosome 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of chromosome 20 -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 Orphanet:262725 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication/triplication of chromosome 5p -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 Orphanet:262725 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 5p -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 Orphanet:262725 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of the short arm of chromosome 5 -MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 Orphanet:262725 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of the short arm of chromosome 5 -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 Orphanet:262812 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication/triplication of chromosome 18p -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 Orphanet:262812 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy/tetrasomy of chromosome 18p -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 Orphanet:262812 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication/triplication of the short arm of chromosome 18 -MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 Orphanet:262812 MONDO:equivalentTo Partial duplication/triplication of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy/tetrasomy of the short arm of chromosome 18 -MONDO:0016956 partial trisomy of the long arm of chromosome 5 Orphanet:262869 MONDO:equivalentTo Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 5q -MONDO:0016956 partial trisomy of the long arm of chromosome 5 Orphanet:262869 MONDO:equivalentTo Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 5q -MONDO:0016956 partial trisomy of the long arm of chromosome 5 Orphanet:262869 MONDO:equivalentTo Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 5 -MONDO:0016956 partial trisomy of the long arm of chromosome 5 Orphanet:262869 MONDO:equivalentTo Partial duplication of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 5 -MONDO:0016960 partial trisomy of the long arm of chromosome 9 Orphanet:262905 MONDO:equivalentTo Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 9q -MONDO:0016960 partial trisomy of the long arm of chromosome 9 Orphanet:262905 MONDO:equivalentTo Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 9q -MONDO:0016960 partial trisomy of the long arm of chromosome 9 Orphanet:262905 MONDO:equivalentTo Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 9 -MONDO:0016960 partial trisomy of the long arm of chromosome 9 Orphanet:262905 MONDO:equivalentTo Partial duplication of the long arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 9 -MONDO:0016966 partial trisomy of the long arm of chromosome 16 Orphanet:262959 MONDO:equivalentTo Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 16q -MONDO:0016966 partial trisomy of the long arm of chromosome 16 Orphanet:262959 MONDO:equivalentTo Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 16q -MONDO:0016966 partial trisomy of the long arm of chromosome 16 Orphanet:262959 MONDO:equivalentTo Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 16 -MONDO:0016966 partial trisomy of the long arm of chromosome 16 Orphanet:262959 MONDO:equivalentTo Partial duplication of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 16 -MONDO:0016968 partial trisomy of the long arm of chromosome 18 Orphanet:262977 MONDO:equivalentTo Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 18q -MONDO:0016968 partial trisomy of the long arm of chromosome 18 Orphanet:262977 MONDO:equivalentTo Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 18q -MONDO:0016968 partial trisomy of the long arm of chromosome 18 Orphanet:262977 MONDO:equivalentTo Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 18 -MONDO:0016968 partial trisomy of the long arm of chromosome 18 Orphanet:262977 MONDO:equivalentTo Partial duplication of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 18 -MONDO:0016970 partial trisomy of the long arm of chromosome 20 Orphanet:262995 MONDO:equivalentTo Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 20q -MONDO:0016970 partial trisomy of the long arm of chromosome 20 Orphanet:262995 MONDO:equivalentTo Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 20q -MONDO:0016970 partial trisomy of the long arm of chromosome 20 Orphanet:262995 MONDO:equivalentTo Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 20 -MONDO:0016970 partial trisomy of the long arm of chromosome 20 Orphanet:262995 MONDO:equivalentTo Partial duplication of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial trisomy of the long arm of chromosome 20 -MONDO:0016983 Bartter syndrome with hypocalcemia Orphanet:570371 MONDO:equivalentTo Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type v -MONDO:0016983 Bartter syndrome with hypocalcemia Orphanet:570371 MONDO:equivalentTo Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 5 -MONDO:0016988 hyperinsulinism due to HNF4A deficiency Orphanet:263455 MONDO:equivalentTo Congenital hyperinsulinism due to HNF4A deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to hnf4a deficiency -MONDO:0017004 partial monosomy of the short arm of chromosome X Orphanet:263731 MONDO:equivalentTo Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome xp -MONDO:0017004 partial monosomy of the short arm of chromosome X Orphanet:263731 MONDO:equivalentTo Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of the short arm of chromosome x -MONDO:0017004 partial monosomy of the short arm of chromosome X Orphanet:263731 MONDO:equivalentTo Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome xp -MONDO:0017004 partial monosomy of the short arm of chromosome X Orphanet:263731 MONDO:equivalentTo Partial deletion of the short arm of the chromosome X semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial monosomy of the short arm of chromosome x -MONDO:0017014 interstitial lung disease specific to childhood Orphanet:139 MONDO:equivalentTo CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome -MONDO:0017062 spina bifida aperta Orphanet:268369 MONDO:equivalentTo Open spinal dysraphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida aperta -MONDO:0017069 spina bifida cystica Orphanet:268744 MONDO:equivalentTo Spinal dysraphism with a posterior meningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida cystica -MONDO:0017131 hereditary cardiac anomaly Orphanet:271853 MONDO:equivalentTo Genetic cardiac anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic cardiac anomaly -MONDO:0017138 Opitz G/BBB syndrome Orphanet:2745 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertelorism-oesophageal abnormality-hypospadias syndrome -MONDO:0017138 Opitz G/BBB syndrome Orphanet:2745 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome -MONDO:0017138 Opitz G/BBB syndrome Orphanet:2745 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome -MONDO:0017138 Opitz G/BBB syndrome Orphanet:2745 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz-frias syndrome -MONDO:0017138 Opitz G/BBB syndrome Orphanet:2745 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome -MONDO:0017138 Opitz G/BBB syndrome Orphanet:2745 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome -MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome Orphanet:2759 MONDO:equivalentTo Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seghers syndrome -MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome Orphanet:2795 MONDO:equivalentTo Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler-christmas-chapple syndrome -MONDO:0017229 distal monosomy 12p Orphanet:280325 MONDO:equivalentTo Distal deletion 12p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 12p13.33 microdeletion syndrome -MONDO:0017229 distal monosomy 12p Orphanet:280325 MONDO:equivalentTo Distal deletion 12p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(12)(p13.33) -MONDO:0017229 distal monosomy 12p Orphanet:280325 MONDO:equivalentTo Distal deletion 12p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 12p -MONDO:0017229 distal monosomy 12p Orphanet:280325 MONDO:equivalentTo Distal deletion 12p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 12p -MONDO:0017267 self-healing collodion baby Orphanet:281122 MONDO:equivalentTo Self-improving collodion baby semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym self-improving congenital ichthyosis -MONDO:0017267 self-healing collodion baby Orphanet:281122 MONDO:equivalentTo Self-improving collodion baby semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym self-healing collodion baby -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 10p12p11 microdeletion syndrome -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(10)(p11.21p12.31) -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deletion 10p11.21p12.31 -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 10p11.21p12.31 -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion -MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion Orphanet:284169 MONDO:equivalentTo Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome due to 10p11.21p12.31 microdeletion -MONDO:0017287 IgG4-related disease Orphanet:596448 MONDO:equivalentTo IgG4-related systemic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label igg4-related systemic disease -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Orphanet:284448 MONDO:equivalentTo CLIPPERS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clippers -MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Orphanet:284448 MONDO:equivalentTo CLIPPERS semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids -MONDO:0017314 Ehlers-Danlos syndrome, vascular type Orphanet:286 MONDO:equivalentTo Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds iv -MONDO:0017314 Ehlers-Danlos syndrome, vascular type Orphanet:286 MONDO:equivalentTo Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ehlers-danlos syndrome type 4 -MONDO:0017314 Ehlers-Danlos syndrome, vascular type Orphanet:286 MONDO:equivalentTo Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sack-barabas syndrome -MONDO:0017319 hereditary elliptocytosis Orphanet:98868 MONDO:equivalentTo Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ovalocytosis -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome Orphanet:289478 MONDO:equivalentTo PASH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pash syndrome -MONDO:0017332 pyoderma gangrenosum-acne-suppurative hidradenitis syndrome Orphanet:289478 MONDO:equivalentTo PASH syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyoderma gangrenosum-acne-suppurative hidradenitis syndrome -MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome Orphanet:289573 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome -MONDO:0017355 inborn disorder of proline metabolism Orphanet:289866 MONDO:equivalentTo Disorder of proline metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of proline metabolism -MONDO:0017356 inborn disorder of ornithine metabolism Orphanet:289869 MONDO:equivalentTo Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of ornithine metabolism -MONDO:0017385 malignant migrating partial seizures of infancy Orphanet:293181 MONDO:equivalentTo Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant migrating partial epilepsy of infancy -MONDO:0017385 malignant migrating partial seizures of infancy Orphanet:293181 MONDO:equivalentTo Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrating partial epilepsy of infancy -MONDO:0017385 malignant migrating partial seizures of infancy Orphanet:293181 MONDO:equivalentTo Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migrating partial seizures of infancy -MONDO:0017385 malignant migrating partial seizures of infancy Orphanet:293181 MONDO:equivalentTo Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym malignant migrating partial seizures of infancy -MONDO:0017388 celiac trunk compression syndrome Orphanet:293208 MONDO:equivalentTo Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dunbar syndrome -MONDO:0017395 fixed pigmented erythema Orphanet:293812 MONDO:equivalentTo Fixed drug eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fixed drug eruption -MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome Orphanet:293978 MONDO:equivalentTo Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym david syndrome -MONDO:0017435 popliteal pterygium syndrome Orphanet:1300 MONDO:equivalentTo Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome -MONDO:0017456 central polydactyly of fingers Orphanet:295004 MONDO:equivalentTo Central polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesoaxial polydactyly -MONDO:0017469 congenital elbow dislocation Orphanet:295032 MONDO:equivalentTo Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated congenital elbow dislocation -MONDO:0017568 Prata-Liberal-Goncalves syndrome Orphanet:2956 MONDO:equivalentTo Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachydactyly-scoliosis-carpal fusion syndrome -MONDO:0017568 Prata-Liberal-Goncalves syndrome Orphanet:2956 MONDO:equivalentTo Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrodysplasia scoliosis -MONDO:0017568 Prata-Liberal-Goncalves syndrome Orphanet:2956 MONDO:equivalentTo Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prata-liberal-goncalves syndrome -MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome Orphanet:2973 MONDO:equivalentTo 46,XX difference of sex development-anorectal anomalies syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx disorder of sex development-anorectal anomalies syndrome -MONDO:0017576 46,XX disorder of sex development Orphanet:2982 MONDO:equivalentTo 46,XX difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx dsd -MONDO:0017576 46,XX disorder of sex development Orphanet:2982 MONDO:equivalentTo 46,XX difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx disorder of sex development -MONDO:0017582 pituitary adenocarcinoma Orphanet:300385 MONDO:equivalentTo Pituitary carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pituitary carcinoma -MONDO:0017607 caudal regression sequence Orphanet:3027 MONDO:equivalentTo Caudal regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caudal dysplasia -MONDO:0017607 caudal regression sequence Orphanet:3027 MONDO:equivalentTo Caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence -MONDO:0017617 acquired adult-onset immunodeficiency Orphanet:306431 MONDO:equivalentTo Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adult-onset immunodeficiency with anti-interferon-gamma autoantibodies -MONDO:0017617 acquired adult-onset immunodeficiency Orphanet:306431 MONDO:equivalentTo Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired adult-onset immunodeficiency -MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Orphanet:306516 MONDO:equivalentTo Primary hypomagnesemia with hypercalciuria and nephrocalcinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym michellis-castrillo syndrome -MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption Orphanet:309001 MONDO:equivalentTo Disorder of carbohydrate absorption and transport semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate absorption and transport -MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Orphanet:309515 MONDO:equivalentTo Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disorder of glycosphingolipid and gpi-anchored proteins glycosylation -MONDO:0017755 inborn disorder of bilirubin metabolism Orphanet:309816 MONDO:equivalentTo Disorder of bilirubin metabolism and excretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of bilirubin metabolism and excretion -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome Orphanet:3109 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome Orphanet:3109 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rokitansky syndrome -MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome Orphanet:314002 MONDO:equivalentTo Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dinno syndrome -MONDO:0017809 parkinsonism due to ATP13A2 deficiency Orphanet:314632 MONDO:equivalentTo ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cln12 disease -MONDO:0017813 van Maldergem syndrome Orphanet:314679 MONDO:equivalentTo Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym van maldergem syndrome -MONDO:0017813 van Maldergem syndrome Orphanet:314679 MONDO:equivalentTo Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym van maldergem syndrome -MONDO:0017836 erythrokeratoderma en cocardes Orphanet:315 MONDO:equivalentTo Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym "degos genodermatosis ""en cocardes""" -MONDO:0017844 Sezary syndrome Orphanet:3162 MONDO:equivalentTo Sézary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sézary lymphoma -MONDO:0017844 Sezary syndrome Orphanet:3162 MONDO:equivalentTo Sézary syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sézary syndrome -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Orphanet:319547 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Orphanet:319547 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete ifngammar2 deficiency -MONDO:0017900 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Orphanet:319547 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interferon gamma receptor 2 deficiency -MONDO:0017909 inherited glutathione synthetase deficiency Orphanet:32 MONDO:equivalentTo Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyroglutamicaciduria -MONDO:0017909 inherited glutathione synthetase deficiency Orphanet:32 MONDO:equivalentTo Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency -MONDO:0017917 maternally-inherited spastic paraplegia Orphanet:320360 MONDO:equivalentTo MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited spg -MONDO:0017917 maternally-inherited spastic paraplegia Orphanet:320360 MONDO:equivalentTo MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mt-atp6-related mitochondrial spastic paraplegia -MONDO:0017917 maternally-inherited spastic paraplegia Orphanet:320360 MONDO:equivalentTo MT-ATP6-related mitochondrial spastic paraplegia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maternally-inherited spastic paraplegia -MONDO:0017919 exstrophy-epispadias complex Orphanet:93929 MONDO:equivalentTo Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex -MONDO:0017939 minicore myopathy Orphanet:324604 MONDO:equivalentTo Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label classic multiminicore myopathy -MONDO:0017968 46,XY ovotesticular disorder of sex development Orphanet:325345 MONDO:equivalentTo 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy ovotesticular dsd -MONDO:0017968 46,XY ovotesticular disorder of sex development Orphanet:325345 MONDO:equivalentTo 46,XY ovotesticular difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy ovotesticular disorder of sex development -MONDO:0017975 sex chromosome disorder of sex development Orphanet:325546 MONDO:equivalentTo Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sex chromosome dsd -MONDO:0017975 sex chromosome disorder of sex development Orphanet:325546 MONDO:equivalentTo Sex chromosome difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sex chromosome disorder of sex development -MONDO:0017980 syngnathia multiple anomalies Orphanet:3262 MONDO:equivalentTo Dobrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syngnathia-multiple anomalies syndrome -MONDO:0017980 syngnathia multiple anomalies Orphanet:3262 MONDO:equivalentTo Dobrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dobrow syndrome -MONDO:0017991 Takayasu arteritis Orphanet:99079 MONDO:equivalentTo Cervical aortic arch semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical aortic arch -MONDO:0018000 hereditary thrombocytosis with transverse limb defect Orphanet:329319 MONDO:equivalentTo Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial thrombocytosis with transverse limb defect -MONDO:0018000 hereditary thrombocytosis with transverse limb defect Orphanet:329319 MONDO:equivalentTo Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary thrombocytosis with transverse limb defect -MONDO:0018001 inverse Klippel-Trenaunay syndrome Orphanet:329324 MONDO:equivalentTo Inverse Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous hemangioma with muscle or bone atrophy -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329918 MONDO:equivalentTo C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-ig-mediated membranoproliferative glomerulonephritis -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329918 MONDO:equivalentTo C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-ig-mediated mpgn -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329918 MONDO:equivalentTo C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-immunoglobulin-mediated mpgn -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329918 MONDO:equivalentTo C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label c3 glomerulopathy -MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329918 MONDO:equivalentTo C3 glomerulopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-immunoglobulin-mediated membranoproliferative glomerulonephritis -MONDO:0018026 tetraploidy syndrome Orphanet:3305 MONDO:equivalentTo Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy -MONDO:0018027 duplication/inversion 15q11 Orphanet:3306 MONDO:equivalentTo Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duplication/inversion 15q11 -MONDO:0018027 duplication/inversion 15q11 Orphanet:3306 MONDO:equivalentTo Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-distal tetrasomy 15q -MONDO:0018027 duplication/inversion 15q11 Orphanet:3306 MONDO:equivalentTo Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric tetrasomy 15q -MONDO:0018027 duplication/inversion 15q11 Orphanet:3306 MONDO:equivalentTo Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym duplication/inversion 15q11 -MONDO:0018031 granulomatous slack skin disease Orphanet:33111 MONDO:equivalentTo Granulomatous slack skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous slack skin -MONDO:0018065 isolated trigonocephaly Orphanet:3366 MONDO:equivalentTo Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-syndromic metopic craniosynostosis -MONDO:0018065 isolated trigonocephaly Orphanet:3366 MONDO:equivalentTo Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated trigonocephaly -MONDO:0018069 distal trisomy 17q Orphanet:3379 MONDO:equivalentTo Distal duplication 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 17q -MONDO:0018069 distal trisomy 17q Orphanet:3379 MONDO:equivalentTo Distal duplication 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 17qter -MONDO:0018069 distal trisomy 17q Orphanet:3379 MONDO:equivalentTo Distal duplication 17q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 17q -MONDO:0018069 distal trisomy 17q Orphanet:3379 MONDO:equivalentTo Distal duplication 17q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 17q -MONDO:0018072 persistent truncus arteriosus Orphanet:3384 MONDO:equivalentTo Truncus arteriosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common aorticopulmonary trunk -MONDO:0018072 persistent truncus arteriosus Orphanet:3384 MONDO:equivalentTo Truncus arteriosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym common arterial trunk -MONDO:0018072 persistent truncus arteriosus Orphanet:3384 MONDO:equivalentTo Truncus arteriosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label truncus arteriosus -MONDO:0018097 West syndrome Orphanet:3451 MONDO:equivalentTo Infantile spasms syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym west syndrome -MONDO:0018106 hereditary xanthinuria Orphanet:93601 MONDO:equivalentTo Xanthinuria type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency -MONDO:0018112 isolated scaphocephaly Orphanet:35093 MONDO:equivalentTo Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated scaphocephaly -MONDO:0018114 isolated brachycephaly Orphanet:35099 MONDO:equivalentTo Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated brachycephaly -MONDO:0018141 pyruvate carboxylase deficiency, infantile form Orphanet:353308 MONDO:equivalentTo Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate carboxylase deficiency type a -MONDO:0018148 vasoproliferative tumor of retina Orphanet:353356 MONDO:equivalentTo Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal vasoproliferative tumor -MONDO:0018148 vasoproliferative tumor of retina Orphanet:353356 MONDO:equivalentTo Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vasoproliferative tumor of the ocular fundus -MONDO:0018155 lateral sclerosis Orphanet:35689 MONDO:equivalentTo Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset pls -MONDO:0018155 lateral sclerosis Orphanet:35689 MONDO:equivalentTo Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset primary lateral sclerosis -MONDO:0018155 lateral sclerosis Orphanet:35689 MONDO:equivalentTo Primary lateral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary lateral sclerosis -MONDO:0018169 morning glory syndrome Orphanet:35737 MONDO:equivalentTo Morning glory disc anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectasic coloboma -MONDO:0018169 morning glory syndrome Orphanet:35737 MONDO:equivalentTo Morning glory disc anomaly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym morning glory syndrome -MONDO:0018174 hereditary glaucoma Orphanet:359 MONDO:equivalentTo Pediatric-onset glaucoma of genetic origin semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary glaucoma -MONDO:0018205 distal monosomy 1q Orphanet:36367 MONDO:equivalentTo Distal deletion 1q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 1qter -MONDO:0018205 distal monosomy 1q Orphanet:36367 MONDO:equivalentTo Distal deletion 1q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 1q -MONDO:0018205 distal monosomy 1q Orphanet:36367 MONDO:equivalentTo Distal deletion 1q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 1q -MONDO:0018205 distal monosomy 1q Orphanet:36367 MONDO:equivalentTo Distal deletion 1q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 1q -MONDO:0018214 generalized epilepsy with febrile seizures plus Orphanet:36387 MONDO:equivalentTo Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gefs+ -MONDO:0018214 generalized epilepsy with febrile seizures plus Orphanet:36387 MONDO:equivalentTo Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic epilepsy with febrile seizures-plus -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Orphanet:363958 MONDO:equivalentTo 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del(17)(q21.31) -MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Orphanet:363958 MONDO:equivalentTo 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 17q21.31 -MONDO:0018230 skeletal dysplasia Orphanet:364526 MONDO:equivalentTo Primary bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary osteodysplasia -MONDO:0018230 skeletal dysplasia Orphanet:364526 MONDO:equivalentTo Primary bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary skeletal dysplasia -MONDO:0018230 skeletal dysplasia Orphanet:364526 MONDO:equivalentTo Primary bone dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary bone dysplasia -MONDO:0018266 ataxia - telangiectasia variant Orphanet:370109 MONDO:equivalentTo Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym v-at -MONDO:0018276 muscular dystrophy-dystroglycanopathy Orphanet:370953 MONDO:equivalentTo Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmd due to dystroglycanopathy -MONDO:0018308 liver mesenchymal hamartoma Orphanet:386 MONDO:equivalentTo Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym biliary hamartoma -MONDO:0018308 liver mesenchymal hamartoma Orphanet:386 MONDO:equivalentTo Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesenchymal hamartoma of liver -MONDO:0018308 liver mesenchymal hamartoma Orphanet:386 MONDO:equivalentTo Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von meyenburg complexes disease -MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome Orphanet:397933 MONDO:equivalentTo Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iqsec2-related syndromic intellectual disability -MONDO:0018349 MAN1B1-congenital disorder of glycosylation Orphanet:397941 MONDO:equivalentTo MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency -MONDO:0018349 MAN1B1-congenital disorder of glycosylation Orphanet:397941 MONDO:equivalentTo MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 2 due to man1b1 deficiency -MONDO:0018349 MAN1B1-congenital disorder of glycosylation Orphanet:397941 MONDO:equivalentTo MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii due to man1b1 deficiency -MONDO:0018349 MAN1B1-congenital disorder of glycosylation Orphanet:397941 MONDO:equivalentTo MAN1B1-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intellectual disability-truncal obesity syndrome -MONDO:0018352 squamous cell carcinoma of penis Orphanet:398058 MONDO:equivalentTo Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym penile squamous cell carcinoma -MONDO:0018352 squamous cell carcinoma of penis Orphanet:398058 MONDO:equivalentTo Squamous cell carcinoma of the penis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the penis -MONDO:0018369 immature ovarian teratoma Orphanet:398987 MONDO:equivalentTo Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immature teratoma of ovary -MONDO:0018369 immature ovarian teratoma Orphanet:398987 MONDO:equivalentTo Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian immature teratoma -MONDO:0018369 immature ovarian teratoma Orphanet:398987 MONDO:equivalentTo Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant teratoma -MONDO:0018369 immature ovarian teratoma Orphanet:398987 MONDO:equivalentTo Malignant teratoma of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant teratoma of ovary -MONDO:0018371 nebulin-related early-onset distal myopathy Orphanet:399103 MONDO:equivalentTo Distal nebulin myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nebulin-related early-onset distal myopathy -MONDO:0018424 inherited lipoic acid biosynthesis defect Orphanet:401854 MONDO:equivalentTo Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoate biosynthesis defect -MONDO:0018438 eosinophilic gastrointestinal disease Orphanet:402029 MONDO:equivalentTo Primary eosinophilic gastrointestinal disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary eosinophilic gastrointestinal disease -MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Orphanet:404476 MONDO:equivalentTo Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glow syndrome -MONDO:0018473 hyperlipoproteinemia type 3 Orphanet:412 MONDO:equivalentTo Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hlp type 3 -MONDO:0018473 hyperlipoproteinemia type 3 Orphanet:412 MONDO:equivalentTo Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperlipidemia type 3 -MONDO:0018473 hyperlipoproteinemia type 3 Orphanet:412 MONDO:equivalentTo Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperlipoproteinemia type 3 -MONDO:0018510 small intestine neuroendocrine neoplasm Orphanet:423975 MONDO:equivalentTo Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the small intestine -MONDO:0018510 small intestine neuroendocrine neoplasm Orphanet:423975 MONDO:equivalentTo Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine neoplasm of the small intestine -MONDO:0018510 small intestine neuroendocrine neoplasm Orphanet:423975 MONDO:equivalentTo Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuroendocrine tumor of small bowel -MONDO:0018513 squamous cell carcinoma of colon Orphanet:423994 MONDO:equivalentTo Squamous cell carcinoma of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the colon -MONDO:0018515 squamous cell carcinoma of rectum Orphanet:424002 MONDO:equivalentTo Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal squamous cell carcinoma -MONDO:0018515 squamous cell carcinoma of rectum Orphanet:424002 MONDO:equivalentTo Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the rectum -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract Orphanet:424991 MONDO:equivalentTo Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of the gallbladder and ebt -MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract Orphanet:424991 MONDO:equivalentTo Adenocarcinoma of the gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenocarcinoma of the gallbladder and extrahepatic biliary tract -MONDO:0018544 adrenoleukodystrophy Orphanet:43 MONDO:equivalentTo X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-ald -MONDO:0018544 adrenoleukodystrophy Orphanet:43 MONDO:equivalentTo X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked ald -MONDO:0018544 adrenoleukodystrophy Orphanet:43 MONDO:equivalentTo X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked adrenoleukodystrophy -MONDO:0018555 hypogonadotropic hypogonadism Orphanet:238666 MONDO:equivalentTo Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropic deficiency -MONDO:0018555 hypogonadotropic hypogonadism Orphanet:432 MONDO:equivalentTo Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nihh -MONDO:0018555 hypogonadotropic hypogonadism Orphanet:432 MONDO:equivalentTo Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym normosmic idiopathic hypogonadotropic hypogonadism -MONDO:0018555 hypogonadotropic hypogonadism Orphanet:432 MONDO:equivalentTo Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label normosmic congenital hypogonadotropic hypogonadism -MONDO:0018614 undetermined early-onset epileptic encephalopathy Orphanet:442835 MONDO:equivalentTo Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undetermined early-onset epileptic encephalopathy -MONDO:0018614 undetermined early-onset epileptic encephalopathy Orphanet:442835 MONDO:equivalentTo Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undetermined eoee -MONDO:0018614 undetermined early-onset epileptic encephalopathy Orphanet:442835 MONDO:equivalentTo Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym undetermined early-onset epileptic encephalopathy -MONDO:0018644 autosomal dominant complex spastic paraplegia type 9B Orphanet:447757 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ad-spg9b -MONDO:0018646 sclerosing cholangitis Orphanet:171 MONDO:equivalentTo Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis -MONDO:0018661 Zika virus infectious disease Orphanet:448237 MONDO:equivalentTo Zika virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zika virus infection -MONDO:0018661 Zika virus infectious disease Orphanet:448237 MONDO:equivalentTo Zika virus disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zika virus disease -MONDO:0018677 visceral heterotaxy Orphanet:157769 MONDO:equivalentTo Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym incomplete situs inversus -MONDO:0018677 visceral heterotaxy Orphanet:157769 MONDO:equivalentTo Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial situs inversus -MONDO:0018677 visceral heterotaxy Orphanet:157769 MONDO:equivalentTo Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym situs ambiguous -MONDO:0018677 visceral heterotaxy Orphanet:157769 MONDO:equivalentTo Situs ambiguus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label situs ambiguus -MONDO:0018677 visceral heterotaxy Orphanet:450 MONDO:equivalentTo Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heterotaxy syndrome -MONDO:0018677 visceral heterotaxy Orphanet:450 MONDO:equivalentTo Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lateralization defect -MONDO:0018677 visceral heterotaxy Orphanet:450 MONDO:equivalentTo Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym visceral heterotaxy -MONDO:0018677 visceral heterotaxy Orphanet:450 MONDO:equivalentTo Heterotaxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label heterotaxia -MONDO:0018677 visceral heterotaxy Orphanet:450 MONDO:equivalentTo Heterotaxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym visceral heterotaxy -MONDO:0018694 isolated tracheo-esophageal fistula Orphanet:454750 MONDO:equivalentTo Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h-type tracheoesophageal fistula -MONDO:0018702 Castleman-Kojima disease Orphanet:457077 MONDO:equivalentTo TAFRO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome -MONDO:0018702 Castleman-Kojima disease Orphanet:457077 MONDO:equivalentTo TAFRO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tafro syndrome -MONDO:0018737 catastrophic antiphospholipid syndrome Orphanet:208650 MONDO:equivalentTo Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps -MONDO:0018740 drug-induced methemoglobinemia Orphanet:464453 MONDO:equivalentTo Acquired methemoglobinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym drug-induced methemoglobinemia -MONDO:0018747 acquired epidermolysis bullosa Orphanet:46487 MONDO:equivalentTo Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired epidermolysis bullosa -MONDO:0018747 acquired epidermolysis bullosa Orphanet:46487 MONDO:equivalentTo Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolysis bullosa acquisita -MONDO:0018747 acquired epidermolysis bullosa Orphanet:46487 MONDO:equivalentTo Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired epidermolysis bullosa -MONDO:0018751 hereditary otorhinolaryngologic disease Orphanet:466084 MONDO:equivalentTo Genetic otorhinolaryngologic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic otorhinolaryngologic disease -MONDO:0018760 DeSanto-Shinawi syndrome Orphanet:466943 MONDO:equivalentTo WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome -MONDO:0018760 DeSanto-Shinawi syndrome Orphanet:466943 MONDO:equivalentTo WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome -MONDO:0018768 familial cold autoinflammatory syndrome Orphanet:47045 MONDO:equivalentTo Familial cold urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cold autoinflammatory syndrome -MONDO:0018768 familial cold autoinflammatory syndrome Orphanet:47045 MONDO:equivalentTo Familial cold urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial cold autoinflammatory syndrome -MONDO:0018805 bile duct cyst Orphanet:480501 MONDO:equivalentTo Choledochal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital cystic dilatation of the biliary tract -MONDO:0018805 bile duct cyst Orphanet:480501 MONDO:equivalentTo Choledochal cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choledochal cyst -MONDO:0018814 non-SCID combined immunodeficiency Orphanet:480549 MONDO:equivalentTo Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-scid -MONDO:0018814 non-SCID combined immunodeficiency Orphanet:480549 MONDO:equivalentTo Non-severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-severe combined immunodeficiency -MONDO:0018838 lissencephaly spectrum disorders Orphanet:48471 MONDO:equivalentTo Lissencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly -MONDO:0018866 Aicardi-Goutieres syndrome Orphanet:51 MONDO:equivalentTo Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy with basal ganglia calcification -MONDO:0018866 Aicardi-Goutieres syndrome Orphanet:51 MONDO:equivalentTo Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid -MONDO:0018870 arterial calcification of infancy Orphanet:51608 MONDO:equivalentTo Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infantile arterial calcification -MONDO:0018870 arterial calcification of infancy Orphanet:51608 MONDO:equivalentTo Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic obliterative arteriopathy -MONDO:0018870 arterial calcification of infancy Orphanet:51608 MONDO:equivalentTo Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile arteriosclerosis -MONDO:0018870 arterial calcification of infancy Orphanet:51608 MONDO:equivalentTo Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym occlusive infantile arteriopathy -MONDO:0018870 arterial calcification of infancy Orphanet:51608 MONDO:equivalentTo Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized arterial calcification of infancy -MONDO:0018871 acute myelomonocytic leukemia M4 Orphanet:517 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml m4 -MONDO:0018871 acute myelomonocytic leukemia M4 Orphanet:517 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ammol -MONDO:0018871 acute myelomonocytic leukemia M4 Orphanet:517 MONDO:equivalentTo Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy Orphanet:528 MONDO:equivalentTo Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym berardinelli-seip congenital lipodystrophy -MONDO:0018889 hyaline body myopathy Orphanet:53698 MONDO:equivalentTo Myosin storage myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myosin storage myopathy -MONDO:0018889 hyaline body myopathy Orphanet:53698 MONDO:equivalentTo Myosin storage myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyaline body myopathy -MONDO:0018890 Lyell syndrome Orphanet:537 MONDO:equivalentTo Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lyell syndrome -MONDO:0018893 Cobb syndrome Orphanet:53721 MONDO:equivalentTo Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneomeningospinal angiomatosis -MONDO:0018893 Cobb syndrome Orphanet:53721 MONDO:equivalentTo Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sams 1-31 -MONDO:0018893 Cobb syndrome Orphanet:53721 MONDO:equivalentTo Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal arteriovenous metameric syndrome -MONDO:0018893 Cobb syndrome Orphanet:53721 MONDO:equivalentTo Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cobb syndrome -MONDO:0018911 maturity-onset diabetes of the young Orphanet:552 MONDO:equivalentTo MODY semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maturity-onset diabetes of the young -MONDO:0018911 maturity-onset diabetes of the young Orphanet:552 MONDO:equivalentTo MODY semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym maturity-onset diabetes of the young -MONDO:0018930 monosomy 21 Orphanet:574 MONDO:equivalentTo 21q deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 21q- syndrome -MONDO:0018930 monosomy 21 Orphanet:574 MONDO:equivalentTo 21q deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial 21q monosomy -MONDO:0018930 monosomy 21 Orphanet:574 MONDO:equivalentTo 21q deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 21q deletion syndrome -MONDO:0018931 mucolipidosis type III, alpha/beta Orphanet:423461 MONDO:equivalentTo Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml 3 alpha/beta -MONDO:0018931 mucolipidosis type III, alpha/beta Orphanet:423461 MONDO:equivalentTo Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ml iii alpha/beta -MONDO:0018931 mucolipidosis type III, alpha/beta Orphanet:423461 MONDO:equivalentTo Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta -MONDO:0018931 mucolipidosis type III, alpha/beta Orphanet:577 MONDO:equivalentTo Mucolipidosis type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-hurler polydystrophy -MONDO:0018931 mucolipidosis type III, alpha/beta Orphanet:577 MONDO:equivalentTo Mucolipidosis type III semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucolipidosis type iii -MONDO:0018935 hairy cell leukemia Orphanet:58017 MONDO:equivalentTo Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hcl-c -MONDO:0018935 hairy cell leukemia Orphanet:58017 MONDO:equivalentTo Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukemic reticuloendotheliosis -MONDO:0018951 distal myopathy with vocal cord weakness Orphanet:600 MONDO:equivalentTo Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym matr3-related distal myopathy -MONDO:0018951 distal myopathy with vocal cord weakness Orphanet:600 MONDO:equivalentTo Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with vocal cord weakness -MONDO:0018953 parietal foramina Orphanet:60015 MONDO:equivalentTo Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catlin marks -MONDO:0018953 parietal foramina Orphanet:60015 MONDO:equivalentTo Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fenestrae parietales symmetricae -MONDO:0018953 parietal foramina Orphanet:60015 MONDO:equivalentTo Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna -MONDO:0018953 parietal foramina Orphanet:60015 MONDO:equivalentTo Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cranium bifidum -MONDO:0018953 parietal foramina Orphanet:60015 MONDO:equivalentTo Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symmetric parietal foramina -MONDO:0018953 parietal foramina Orphanet:60015 MONDO:equivalentTo Enlarged parietal foramina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enlarged parietal foramina -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium Orphanet:63454 MONDO:equivalentTo Pattern dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym patterned dystrophy of the retinal pigment epithelium -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Orphanet:639 MONDO:equivalentTo Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anti-mag neuropathy -MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Orphanet:639 MONDO:equivalentTo Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neuropathy associated with monoclonal igm antibodies to myelin-associated glycoprotein -MONDO:0018993 Charcot-Marie-Tooth disease type 2 Orphanet:64746 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant axonal charcot-marie-tooth disease -MONDO:0018993 Charcot-Marie-Tooth disease type 2 Orphanet:64746 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 2 -MONDO:0018994 Charcot-Marie-Tooth disease type X Orphanet:64747 MONDO:equivalentTo X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hereditary motor and sensory neuropathy -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Orphanet:64753 MONDO:equivalentTo Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 2 -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Orphanet:64753 MONDO:equivalentTo Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scan 2 -MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Orphanet:64753 MONDO:equivalentTo Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 2 -MONDO:0019004 kidney Wilms tumor Orphanet:654 MONDO:equivalentTo Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal embryonic tumor -MONDO:0019004 kidney Wilms tumor Orphanet:654 MONDO:equivalentTo Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nephroblastoma -MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome Orphanet:656 MONDO:equivalentTo Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial idiopathic steroid-resistant nephrotic syndrome -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia Orphanet:663 MONDO:equivalentTo Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited chronic progressive external ophthalmoplegia -MONDO:0019016 maternally-inherited progressive external ophthalmoplegia Orphanet:663 MONDO:equivalentTo Mitochondrial DNA-related progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maternally-inherited cpeo -MONDO:0019026 autosomal recessive osteopetrosis Orphanet:667 MONDO:equivalentTo Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile malignant osteopetrosis -MONDO:0019026 autosomal recessive osteopetrosis Orphanet:667 MONDO:equivalentTo Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive malignant osteopetrosis -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Orphanet:69063 MONDO:equivalentTo Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alloimmune neonatal renal disease -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Orphanet:69063 MONDO:equivalentTo Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetomaternal alloimmunization with antenatal glomerulopathies -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Orphanet:69063 MONDO:equivalentTo Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal glomerulopathy due to neprilysin alloimmunization -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Orphanet:69063 MONDO:equivalentTo Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal membranous glomerulopathy with maternal nep deficiency -MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Orphanet:69063 MONDO:equivalentTo Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency -MONDO:0019078 Ritscher-Schinzel syndrome Orphanet:7 MONDO:equivalentTo 3C syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia -MONDO:0019078 Ritscher-Schinzel syndrome Orphanet:7 MONDO:equivalentTo 3C syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ritscher-schinzel syndrome -MONDO:0019078 Ritscher-Schinzel syndrome Orphanet:7 MONDO:equivalentTo 3C syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3c syndrome -MONDO:0019078 Ritscher-Schinzel syndrome Orphanet:7 MONDO:equivalentTo 3C syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ritscher-schinzel syndrome -MONDO:0019100 neuromyelitis optica Orphanet:71211 MONDO:equivalentTo Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym devic disease -MONDO:0019118 inherited retinal dystrophy Orphanet:71862 MONDO:equivalentTo Inherited retinal disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy -MONDO:0019128 mullerian aplasia Orphanet:73217 MONDO:equivalentTo Müllerian aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aplasia of the müllerian ducts -MONDO:0019128 mullerian aplasia Orphanet:73217 MONDO:equivalentTo Müllerian aplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym müllerian duct failure -MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency Orphanet:743 MONDO:equivalentTo Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein s deficiency -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 MONDO:equivalentTo Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to congenital protein c deficiency -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency Orphanet:745 MONDO:equivalentTo Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive thrombophilia due to pc deficiency -MONDO:0019146 inherited susceptibility to mycobacterial diseases Orphanet:748 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infection caused by bcg or atypical mycobacteria -MONDO:0019146 inherited susceptibility to mycobacterial diseases Orphanet:748 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to atypical mycobacteria -MONDO:0019146 inherited susceptibility to mycobacterial diseases Orphanet:748 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial infections -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts Orphanet:75564 MONDO:equivalentTo Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary acquired sideroblastic anemia -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts Orphanet:75564 MONDO:equivalentTo Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refractory anemia with ringed sideroblasts -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts Orphanet:75564 MONDO:equivalentTo Acquired idiopathic sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acquired idiopathic sideroblastic anemia +MONDO:0014946 Sifrim-Hitz-Weiss syndrome Orphanet:653712 MONDO:equivalentTo CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sifrim-hitz-weiss syndrome +MONDO:0014946 Sifrim-Hitz-Weiss syndrome Orphanet:653712 MONDO:equivalentTo CHD4-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sifrim-hitz-weiss syndrome +MONDO:0015265 bronchiolitis obliterans syndrome Orphanet:658602 MONDO:equivalentTo Transplant-related bronchiolitis obliterans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bronchiolitis obliterans syndrome +MONDO:0016715 ependymoblastoma Orphanet:656417 MONDO:equivalentTo Embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes MONDO:0019165 central precocious puberty Orphanet:650063 MONDO:equivalentTo Rare central precocious puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropin-dependant precocious puberty -MONDO:0019169 pyruvate dehydrogenase deficiency Orphanet:79243 MONDO:equivalentTo Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency -MONDO:0019171 familial long QT syndrome Orphanet:101016 MONDO:equivalentTo Romano-Ward syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward long qt syndrome -MONDO:0019171 familial long QT syndrome Orphanet:101016 MONDO:equivalentTo Romano-Ward syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label romano-ward syndrome -MONDO:0019181 non-syndromic X-linked intellectual disability Orphanet:777 MONDO:equivalentTo X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked non-syndromic intellectual disability -MONDO:0019182 inherited obesity Orphanet:77828 MONDO:equivalentTo Genetic obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic obesity -MONDO:0019206 sparse hair-short stature-skin anomalies syndrome Orphanet:2251 MONDO:equivalentTo Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sparse hair-short stature-skin anomalies syndrome -MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism Orphanet:79173 MONDO:equivalentTo Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cytosolic methyl group transfer or sulfur amino acid metabolism disorder -MONDO:0019225 disorder of gluconeogenesis Orphanet:79177 MONDO:equivalentTo Gluconeogenesis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gluconeogenesis disorder -MONDO:0019228 inborn disorder of histidine metabolism Orphanet:79181 MONDO:equivalentTo Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of histidine metabolism -MONDO:0019242 inborn disorder of branched-chain amino acid metabolism Orphanet:79197 MONDO:equivalentTo Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of branched-chain amino acid metabolism -MONDO:0019245 lysosomal lipid storage disorder Orphanet:79204 MONDO:equivalentTo Lipid storage disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lipid storage disease -MONDO:0019257 hemochromatosis type 2 Orphanet:79230 MONDO:equivalentTo HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile hemochromatosis -MONDO:0019257 hemochromatosis type 2 Orphanet:79230 MONDO:equivalentTo HJV or HAMP-related hemochromatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemochromatosis type 2 -MONDO:0019288 skin pigmentation disorder Orphanet:79374 MONDO:equivalentTo Pigmentation anomaly of the skin semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pigmentation anomaly of the skin -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma Orphanet:79394 MONDO:equivalentTo Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrodermic ichthyosis -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma Orphanet:79394 MONDO:equivalentTo Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-bullous congenital ichthyosiform erythroderma -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma Orphanet:79394 MONDO:equivalentTo Congenital ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital ichthyosiform erythroderma -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type Orphanet:79402 MONDO:equivalentTo Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized atrophic benign epidermolysis bullosa -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type Orphanet:79402 MONDO:equivalentTo Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized junctional epidermolysis bullosa, non-herlitz type -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type Orphanet:79402 MONDO:equivalentTo Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa generalisata mitis -MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type Orphanet:79402 MONDO:equivalentTo Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym junctional epidermolysis bullosa, disentis type -MONDO:0019311 wooly hair nevus Orphanet:79414 MONDO:equivalentTo Woolly hair nevus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wooly hair nevus -MONDO:0019311 wooly hair nevus Orphanet:79414 MONDO:equivalentTo Woolly hair nevus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wooly hair nevus -MONDO:0019351 isolated spina bifida Orphanet:823 MONDO:equivalentTo Spina bifida and other spinal dysraphisms semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated spina bifida -MONDO:0019357 congenital narrowing of cervical spinal canal Orphanet:831 MONDO:equivalentTo Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital stenosis of the cervical spine -MONDO:0019357 congenital narrowing of cervical spinal canal Orphanet:831 MONDO:equivalentTo Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital narrowing of cervical spinal canal -MONDO:0019362 epidemic louse-borne typhus Orphanet:83314 MONDO:equivalentTo Epidemic typhus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidemic typhus -MONDO:0019371 narcolepsy without cataplexy Orphanet:83465 MONDO:equivalentTo Narcolepsy type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym narcolepsy without cataplexy -MONDO:0019388 pelvis syndrome Orphanet:83628 MONDO:equivalentTo LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome -MONDO:0019388 pelvis syndrome Orphanet:83628 MONDO:equivalentTo LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sacral syndrome -MONDO:0019388 pelvis syndrome Orphanet:83628 MONDO:equivalentTo LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lumbar syndrome -MONDO:0019388 pelvis syndrome Orphanet:83628 MONDO:equivalentTo LUMBAR syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pelvis syndrome -MONDO:0019399 Isaac syndrome Orphanet:84142 MONDO:equivalentTo Isaacs syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym continuous muscle fiber activity syndrome -MONDO:0019399 Isaac syndrome Orphanet:84142 MONDO:equivalentTo Isaacs syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym quantal squander syndrome -MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis Orphanet:85408 MONDO:equivalentTo Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid factor-negative polyarthritis -MONDO:0019443 dextro-looped transposition of the great arteries Orphanet:860 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenitally uncorrected transposition of the great vessels -MONDO:0019443 dextro-looped transposition of the great arteries Orphanet:860 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated ventriculoarterial discordance -MONDO:0019443 dextro-looped transposition of the great arteries Orphanet:860 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ventriculoarterial discordance with atrioventricular concordance -MONDO:0019443 dextro-looped transposition of the great arteries Orphanet:860 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenitally uncorrected transposition of the great arteries -MONDO:0019452 myeloproliferative neoplasm, unclassifiable Orphanet:86830 MONDO:equivalentTo Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cmpd-u -MONDO:0019452 myeloproliferative neoplasm, unclassifiable Orphanet:86830 MONDO:equivalentTo Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym undifferentiated myeloproliferative disease -MONDO:0019452 myeloproliferative neoplasm, unclassifiable Orphanet:86830 MONDO:equivalentTo Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic myeloproliferative disease, unclassifiable -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia Orphanet:86836 MONDO:equivalentTo Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory cytopenia with multilineage dysplasia -MONDO:0019454 myelodysplastic syndrome with excess blasts Orphanet:86839 MONDO:equivalentTo Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refractory anemia with excess blasts -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia Orphanet:86845 MONDO:equivalentTo Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with multilineage dysplasia -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia Orphanet:86845 MONDO:equivalentTo Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with myelodysplasia-related features -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia Orphanet:86845 MONDO:equivalentTo Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with multilineage dysplasia -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm Orphanet:86870 MONDO:equivalentTo Blastic plasmacytoid dendritic cell neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blastic plasmacytoid dendritic cell neoplasm -MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome Orphanet:86918 MONDO:equivalentTo Diffuse palmoplantar keratoderma-acrocyanosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome -MONDO:0019490 progressive familial heart block Orphanet:871 MONDO:equivalentTo Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial lenègre disease -MONDO:0019490 progressive familial heart block Orphanet:871 MONDO:equivalentTo Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial lev disease -MONDO:0019490 progressive familial heart block Orphanet:871 MONDO:equivalentTo Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial lev-lenègre disease -MONDO:0019490 progressive familial heart block Orphanet:871 MONDO:equivalentTo Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial pccd -MONDO:0019490 progressive familial heart block Orphanet:871 MONDO:equivalentTo Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial progressive heart block -MONDO:0019503 anterior segment dysgenesis Orphanet:88632 MONDO:equivalentTo Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anterior segment dysgenesis -MONDO:0019509 cutaneous leukocytoclastic angiitis Orphanet:889 MONDO:equivalentTo Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cutaneous hypersensitivity vasculitis -MONDO:0019509 cutaneous leukocytoclastic angiitis Orphanet:889 MONDO:equivalentTo Cutaneous small vessel vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous small vessel vasculitis -MONDO:0019516 exudative vitreoretinopathy Orphanet:891 MONDO:equivalentTo Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym criswick-schepens syndrome -MONDO:0019516 exudative vitreoretinopathy Orphanet:891 MONDO:equivalentTo Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial exudative vitreoretinopathy -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other Orphanet:89842 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive dystrophic epidermolysis bullosa generalisata mitis -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other Orphanet:89842 MONDO:equivalentTo Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rdeb, non-hallopeau-siemens type -MONDO:0019538 Gaisbock syndrome Orphanet:90041 MONDO:equivalentTo Gaisböck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stress erythrocytosis -MONDO:0019538 Gaisbock syndrome Orphanet:90041 MONDO:equivalentTo Gaisböck syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stress polycythemia -MONDO:0019563 CREST syndrome Orphanet:220402 MONDO:equivalentTo Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limited cutaneous systemic scleroderma -MONDO:0019563 CREST syndrome Orphanet:220402 MONDO:equivalentTo Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis -MONDO:0019565 hereditary von Willebrand disease Orphanet:903 MONDO:equivalentTo Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary von willebrand disease -MONDO:0019565 hereditary von Willebrand disease Orphanet:903 MONDO:equivalentTo Von Willebrand disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hereditary von willebrand disease -MONDO:0019586 X-linked nonsyndromic hearing loss Orphanet:90625 MONDO:equivalentTo Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked isolated neurosensory hearing loss type dfn -MONDO:0019586 X-linked nonsyndromic hearing loss Orphanet:90625 MONDO:equivalentTo Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked isolated sensorineural hearing loss type dfn -MONDO:0019586 X-linked nonsyndromic hearing loss Orphanet:90625 MONDO:equivalentTo Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory hearing loss type dfn -MONDO:0019586 X-linked nonsyndromic hearing loss Orphanet:90625 MONDO:equivalentTo Rare X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked non-syndromic sensorineural hearing loss type dfn -MONDO:0019587 autosomal dominant nonsyndromic hearing loss Orphanet:90635 MONDO:equivalentTo Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory hearing loss type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss Orphanet:90635 MONDO:equivalentTo Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural hearing loss type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss Orphanet:90635 MONDO:equivalentTo Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory hearing loss type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss Orphanet:90635 MONDO:equivalentTo Rare autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant non-syndromic sensorineural hearing loss type dfna -MONDO:0019609 Zellweger spectrum disorders Orphanet:912 MONDO:equivalentTo Zellweger syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0019609 Zellweger spectrum disorders Orphanet:912 MONDO:equivalentTo Zellweger syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zellweger syndrome -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection Orphanet:229 MONDO:equivalentTo Familial aortic dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial aortic dissection -MONDO:0019629 sclerocornea Orphanet:91490 MONDO:equivalentTo Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated congenital sclerocornea -MONDO:0019642 vitamin D-dependent rickets, type 2 Orphanet:93160 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary vitamin d-resistant rickets -MONDO:0019642 vitamin D-dependent rickets, type 2 Orphanet:93160 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vddr ii -MONDO:0019642 vitamin D-dependent rickets, type 2 Orphanet:93160 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vdrr ii -MONDO:0019642 vitamin D-dependent rickets, type 2 Orphanet:93160 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d-dependent rickets type ii -MONDO:0019642 vitamin D-dependent rickets, type 2 Orphanet:93160 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vitamin d-resistant rickets type ii -MONDO:0019642 vitamin D-dependent rickets, type 2 Orphanet:93160 MONDO:equivalentTo Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocalcemic vitamin d-resistant rickets -MONDO:0019691 short rib dysplasia Orphanet:93426 MONDO:equivalentTo Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym short rib dysplasia -MONDO:0019698 bent bone dysplasia Orphanet:93439 MONDO:equivalentTo Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bent bone dysplasia -MONDO:0019719 congenital anomaly of kidney and urinary tract Orphanet:93545 MONDO:equivalentTo Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital anomalies of kidney and urinary tract -MONDO:0019719 congenital anomaly of kidney and urinary tract Orphanet:93545 MONDO:equivalentTo Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal or urinary tract malformation -MONDO:0019726 type II mixed cryoglobulinemia Orphanet:93554 MONDO:equivalentTo Mixed cryoglobulinemia type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc type ii -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies Orphanet:93581 MONDO:equivalentTo Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ahus with anti-factor h antibodies -MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies Orphanet:93581 MONDO:equivalentTo Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical hus with anti-factor h antibodies -MONDO:0019740 acquired thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:equivalentTo Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura -MONDO:0019740 acquired thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:equivalentTo Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired ttp -MONDO:0019740 acquired thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:equivalentTo Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune thrombotic thrombocytopenic purpura -MONDO:0019740 acquired thrombotic thrombocytopenic purpura Orphanet:93585 MONDO:equivalentTo Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired thrombotic thrombocytopenic purpura -MONDO:0019753 localized Castleman disease Orphanet:93685 MONDO:equivalentTo Unicentric Castleman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym localized castleman disease -MONDO:0019753 localized Castleman disease Orphanet:93685 MONDO:equivalentTo Unicentric Castleman disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym localized castleman disease -MONDO:0019754 multicentric Castleman disease Orphanet:570438 MONDO:equivalentTo HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym human herpesvirus-8-associated multicentric castleman disease -MONDO:0019754 multicentric Castleman disease Orphanet:570438 MONDO:equivalentTo HHV-8-associated multicentric Castleman disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hhv-8-associated multicentric castleman disease -MONDO:0019755 developmental defect during embryogenesis Orphanet:377789 MONDO:equivalentTo Malformation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malformation syndrome -MONDO:0019755 developmental defect during embryogenesis Orphanet:93890 MONDO:equivalentTo Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malformation syndrome -MONDO:0019755 developmental defect during embryogenesis Orphanet:93890 MONDO:equivalentTo Rare developmental defect during embryogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare developmental defect during embryogenesis -MONDO:0019773 myelomeningocele Orphanet:93969 MONDO:equivalentTo Open spinal dysraphism with a myelomeningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelomeningocele -MONDO:0019781 astrocytoma (excluding glioblastoma) Orphanet:94 MONDO:equivalentTo Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label astrocytoma -MONDO:0019787 autoimmune enteropathy Orphanet:94075 MONDO:equivalentTo Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immune-mediated protracted diarrhea of infancy -MONDO:0019787 autoimmune enteropathy Orphanet:94075 MONDO:equivalentTo Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe immune-mediated enteropathy -MONDO:0019787 autoimmune enteropathy Orphanet:94075 MONDO:equivalentTo Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune enteropathy -MONDO:0019788 non-secreting paraganglioma Orphanet:94080 MONDO:equivalentTo Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-secreting paraganglioma -MONDO:0019804 tracheomalacia Orphanet:95430 MONDO:equivalentTo Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital major airway collapse -MONDO:0019804 tracheomalacia Orphanet:95430 MONDO:equivalentTo Congenital tracheomalacia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital tracheomalacia -MONDO:0019808 aortic valve atresia Orphanet:95448 MONDO:equivalentTo Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital aortic valve atresia -MONDO:0019810 toxic epidermal necrolysis Orphanet:95455 MONDO:equivalentTo Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs-ten -MONDO:0019848 posterior hypospadias Orphanet:95706 MONDO:equivalentTo Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym perineal, scrotal or penoscrotal hypospadias -MONDO:0019870 distal trisomy 1p36 Orphanet:96069 MONDO:equivalentTo Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 1p36 -MONDO:0019870 distal trisomy 1p36 Orphanet:96069 MONDO:equivalentTo Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 1pter -MONDO:0019870 distal trisomy 1p36 Orphanet:96069 MONDO:equivalentTo Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 1p36 -MONDO:0019870 distal trisomy 1p36 Orphanet:96069 MONDO:equivalentTo Distal duplication 1p36 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 1p36 -MONDO:0019871 distal trisomy 2p Orphanet:96070 MONDO:equivalentTo Distal duplication 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 2p -MONDO:0019871 distal trisomy 2p Orphanet:96070 MONDO:equivalentTo Distal duplication 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 2pter -MONDO:0019871 distal trisomy 2p Orphanet:96070 MONDO:equivalentTo Distal duplication 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 2p -MONDO:0019871 distal trisomy 2p Orphanet:96070 MONDO:equivalentTo Distal duplication 2p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 2p -MONDO:0019872 distal trisomy 3p Orphanet:96071 MONDO:equivalentTo Distal duplication 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 3p -MONDO:0019872 distal trisomy 3p Orphanet:96071 MONDO:equivalentTo Distal duplication 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 3pter -MONDO:0019872 distal trisomy 3p Orphanet:96071 MONDO:equivalentTo Distal duplication 3p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 3p -MONDO:0019872 distal trisomy 3p Orphanet:96071 MONDO:equivalentTo Distal duplication 3p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 3p -MONDO:0019874 distal trisomy 7p Orphanet:96074 MONDO:equivalentTo Distal duplication 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 7p -MONDO:0019874 distal trisomy 7p Orphanet:96074 MONDO:equivalentTo Distal duplication 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 7pter -MONDO:0019874 distal trisomy 7p Orphanet:96074 MONDO:equivalentTo Distal duplication 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 7p -MONDO:0019874 distal trisomy 7p Orphanet:96074 MONDO:equivalentTo Distal duplication 7p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 7p -MONDO:0019877 distal trisomy 2q Orphanet:96094 MONDO:equivalentTo Distal duplication 2q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 2q -MONDO:0019877 distal trisomy 2q Orphanet:96094 MONDO:equivalentTo Distal duplication 2q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 2qter -MONDO:0019877 distal trisomy 2q Orphanet:96094 MONDO:equivalentTo Distal duplication 2q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 2q -MONDO:0019877 distal trisomy 2q Orphanet:96094 MONDO:equivalentTo Distal duplication 2q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 2q -MONDO:0019879 distal trisomy 4q Orphanet:96096 MONDO:equivalentTo Distal duplication 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 4q -MONDO:0019879 distal trisomy 4q Orphanet:96096 MONDO:equivalentTo Distal duplication 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 4qter -MONDO:0019879 distal trisomy 4q Orphanet:96096 MONDO:equivalentTo Distal duplication 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 4q -MONDO:0019879 distal trisomy 4q Orphanet:96096 MONDO:equivalentTo Distal duplication 4q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 4q -MONDO:0019880 distal trisomy 5q Orphanet:96097 MONDO:equivalentTo Distal duplication 5q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 5q -MONDO:0019880 distal trisomy 5q Orphanet:96097 MONDO:equivalentTo Distal duplication 5q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 5qter -MONDO:0019880 distal trisomy 5q Orphanet:96097 MONDO:equivalentTo Distal duplication 5q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 5q -MONDO:0019880 distal trisomy 5q Orphanet:96097 MONDO:equivalentTo Distal duplication 5q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 5q -MONDO:0019881 distal trisomy 6q Orphanet:96098 MONDO:equivalentTo Distal duplication 6q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 6q -MONDO:0019881 distal trisomy 6q Orphanet:96098 MONDO:equivalentTo Distal duplication 6q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 6qter -MONDO:0019881 distal trisomy 6q Orphanet:96098 MONDO:equivalentTo Distal duplication 6q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 6q -MONDO:0019881 distal trisomy 6q Orphanet:96098 MONDO:equivalentTo Distal duplication 6q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 6q -MONDO:0019882 distal trisomy 8q Orphanet:96100 MONDO:equivalentTo Distal duplication 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 8q -MONDO:0019882 distal trisomy 8q Orphanet:96100 MONDO:equivalentTo Distal duplication 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 8qter -MONDO:0019882 distal trisomy 8q Orphanet:96100 MONDO:equivalentTo Distal duplication 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 8q -MONDO:0019882 distal trisomy 8q Orphanet:96100 MONDO:equivalentTo Distal duplication 8q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 8q -MONDO:0019883 distal trisomy 9q Orphanet:96101 MONDO:equivalentTo Distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 9q -MONDO:0019883 distal trisomy 9q Orphanet:96101 MONDO:equivalentTo Distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 9qter -MONDO:0019883 distal trisomy 9q Orphanet:96101 MONDO:equivalentTo Distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 9q -MONDO:0019883 distal trisomy 9q Orphanet:96101 MONDO:equivalentTo Distal duplication 9q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 9q -MONDO:0019884 distal trisomy 10q Orphanet:96102 MONDO:equivalentTo Distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 10q -MONDO:0019884 distal trisomy 10q Orphanet:96102 MONDO:equivalentTo Distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 10qter -MONDO:0019884 distal trisomy 10q Orphanet:96102 MONDO:equivalentTo Distal duplication 10q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 10q -MONDO:0019884 distal trisomy 10q Orphanet:96102 MONDO:equivalentTo Distal duplication 10q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 10q -MONDO:0019885 distal trisomy 11q Orphanet:96103 MONDO:equivalentTo Distal duplication 11q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 11q -MONDO:0019885 distal trisomy 11q Orphanet:96103 MONDO:equivalentTo Distal duplication 11q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 11qter -MONDO:0019885 distal trisomy 11q Orphanet:96103 MONDO:equivalentTo Distal duplication 11q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 11q -MONDO:0019885 distal trisomy 11q Orphanet:96103 MONDO:equivalentTo Distal duplication 11q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 11q -MONDO:0019886 distal trisomy 13q Orphanet:96105 MONDO:equivalentTo Distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 13q -MONDO:0019886 distal trisomy 13q Orphanet:96105 MONDO:equivalentTo Distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 13qter -MONDO:0019886 distal trisomy 13q Orphanet:96105 MONDO:equivalentTo Distal duplication 13q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 13q -MONDO:0019886 distal trisomy 13q Orphanet:96105 MONDO:equivalentTo Distal duplication 13q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 13q -MONDO:0019887 distal trisomy 16q Orphanet:96106 MONDO:equivalentTo Distal duplication 16q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 16q -MONDO:0019887 distal trisomy 16q Orphanet:96106 MONDO:equivalentTo Distal duplication 16q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 16qter -MONDO:0019887 distal trisomy 16q Orphanet:96106 MONDO:equivalentTo Distal duplication 16q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 16q -MONDO:0019887 distal trisomy 16q Orphanet:96106 MONDO:equivalentTo Distal duplication 16q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 16q -MONDO:0019888 distal trisomy 20q Orphanet:96107 MONDO:equivalentTo Distal duplication 20q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 20q -MONDO:0019888 distal trisomy 20q Orphanet:96107 MONDO:equivalentTo Distal duplication 20q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 20qter -MONDO:0019888 distal trisomy 20q Orphanet:96107 MONDO:equivalentTo Distal duplication 20q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 20q -MONDO:0019888 distal trisomy 20q Orphanet:96107 MONDO:equivalentTo Distal duplication 20q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 20q -MONDO:0019889 distal trisomy 22q Orphanet:96109 MONDO:equivalentTo Distal duplication 22q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric duplication 22q -MONDO:0019889 distal trisomy 22q Orphanet:96109 MONDO:equivalentTo Distal duplication 22q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trisomy 22qter -MONDO:0019889 distal trisomy 22q Orphanet:96109 MONDO:equivalentTo Distal duplication 22q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal duplication 22q -MONDO:0019889 distal trisomy 22q Orphanet:96109 MONDO:equivalentTo Distal duplication 22q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal trisomy 22q -MONDO:0019890 non-distal trisomy 9q Orphanet:96112 MONDO:equivalentTo Non-distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric trisomy 9q -MONDO:0019890 non-distal trisomy 9q Orphanet:96112 MONDO:equivalentTo Non-distal duplication 9q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal duplication 9q -MONDO:0019890 non-distal trisomy 9q Orphanet:96112 MONDO:equivalentTo Non-distal duplication 9q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal trisomy 9q -MONDO:0019892 distal monosomy 7p Orphanet:96126 MONDO:equivalentTo Distal deletion 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 7pter -MONDO:0019892 distal monosomy 7p Orphanet:96126 MONDO:equivalentTo Distal deletion 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 7p -MONDO:0019892 distal monosomy 7p Orphanet:96126 MONDO:equivalentTo Distal deletion 7p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 7p -MONDO:0019892 distal monosomy 7p Orphanet:96126 MONDO:equivalentTo Distal deletion 7p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 7p -MONDO:0019893 distal monosomy 19p13.3 Orphanet:96129 MONDO:equivalentTo Distal deletion 19p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 19p -MONDO:0019893 distal monosomy 19p13.3 Orphanet:96129 MONDO:equivalentTo Distal deletion 19p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 19p -MONDO:0019893 distal monosomy 19p13.3 Orphanet:96129 MONDO:equivalentTo Distal deletion 19p semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 19p13.3 -MONDO:0019895 distal monosomy 4q Orphanet:96145 MONDO:equivalentTo Distal deletion 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 4qter -MONDO:0019895 distal monosomy 4q Orphanet:96145 MONDO:equivalentTo Distal deletion 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 4q -MONDO:0019895 distal monosomy 4q Orphanet:96145 MONDO:equivalentTo Distal deletion 4q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 4q -MONDO:0019895 distal monosomy 4q Orphanet:96145 MONDO:equivalentTo Distal deletion 4q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 4q -MONDO:0019897 distal monosomy 12q Orphanet:96149 MONDO:equivalentTo Distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monosomy 12qter -MONDO:0019897 distal monosomy 12q Orphanet:96149 MONDO:equivalentTo Distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 12q -MONDO:0019897 distal monosomy 12q Orphanet:96149 MONDO:equivalentTo Distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 12q -MONDO:0019897 distal monosomy 12q Orphanet:96149 MONDO:equivalentTo Distal deletion 12q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 12q -MONDO:0019898 distal monosomy 14q Orphanet:96150 MONDO:equivalentTo Distal deletion 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym telomeric deletion 14q -MONDO:0019898 distal monosomy 14q Orphanet:96150 MONDO:equivalentTo Distal deletion 14q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal deletion 14q -MONDO:0019898 distal monosomy 14q Orphanet:96150 MONDO:equivalentTo Distal deletion 14q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal monosomy 14q -MONDO:0019900 non-distal monosomy 12q Orphanet:96160 MONDO:equivalentTo Non-distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-telomeric monosomy 12q -MONDO:0019900 non-distal monosomy 12q Orphanet:96160 MONDO:equivalentTo Non-distal deletion 12q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-distal deletion 12q -MONDO:0019900 non-distal monosomy 12q Orphanet:96160 MONDO:equivalentTo Non-distal deletion 12q semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-distal monosomy 12q -MONDO:0019903 ring chromosome 2 Orphanet:96171 MONDO:equivalentTo Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 2 -MONDO:0019904 ring chromosome 3 Orphanet:96172 MONDO:equivalentTo Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 3 -MONDO:0019905 ring chromosome 9 Orphanet:96173 MONDO:equivalentTo Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ring 9 -MONDO:0019905 ring chromosome 9 Orphanet:96173 MONDO:equivalentTo Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 9 -MONDO:0019906 ring chromosome 11 Orphanet:96175 MONDO:equivalentTo Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym r(11) syndrome -MONDO:0019906 ring chromosome 11 Orphanet:96175 MONDO:equivalentTo Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 11 -MONDO:0019907 ring chromosome 13 Orphanet:96176 MONDO:equivalentTo Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 13 -MONDO:0019908 ring chromosome 15 Orphanet:96177 MONDO:equivalentTo Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 15 -MONDO:0019909 ring chromosome 16 Orphanet:96178 MONDO:equivalentTo Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ring chromosome 16 -MONDO:0019915 maternal uniparental disomy of chromosome 14 Orphanet:96184 MONDO:equivalentTo Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym upd(14)mat -MONDO:0019927 growth hormone-producing pituitary gland neoplasm Orphanet:96256 MONDO:equivalentTo Somatotropic adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym somatotropinoma -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic net -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic neuroendocrine tumor -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated nen of pancreas -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated neuroendocrine neoplasm of pancreas -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated pancreatic nen -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym well-differentiated pancreatic neuroendocrine neoplasm -MONDO:0019954 pancreatic neuroendocrine tumor Orphanet:97253 MONDO:equivalentTo Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic neuroendocrine tumor -MONDO:0019963 bronchial endocrine tumor Orphanet:97287 MONDO:equivalentTo Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bronchial net -MONDO:0020040 46,XY disorder of sex development Orphanet:98085 MONDO:equivalentTo 46,XY difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy dsd -MONDO:0020040 46,XY disorder of sex development Orphanet:98085 MONDO:equivalentTo 46,XY difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development -MONDO:0020058 gonosome anomaly Orphanet:98155 MONDO:equivalentTo Sex-chromosome anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sex-chromosome anomaly -MONDO:0020074 progressive myoclonus epilepsy Orphanet:98261 MONDO:equivalentTo Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonus epilepsy -MONDO:0020074 progressive myoclonus epilepsy Orphanet:98261 MONDO:equivalentTo Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive myoclonic epilepsy -MONDO:0020074 progressive myoclonus epilepsy Orphanet:98261 MONDO:equivalentTo Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive myoclonus epilepsy -MONDO:0020075 hereditary non-syndromic obesity Orphanet:98267 MONDO:equivalentTo Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic non-syndromic obesity -MONDO:0020087 hereditary lipodystrophy Orphanet:98305 MONDO:equivalentTo Genetic lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic lipodystrophy -MONDO:0020099 inherited sideroblastic anemia Orphanet:98362 MONDO:equivalentTo Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label constitutional sideroblastic anemia -MONDO:0020122 acquired idiopathic inflammatory myopathy Orphanet:98482 MONDO:equivalentTo Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic inflammatory myositis -MONDO:0020127 hereditary peripheral neuropathy Orphanet:98497 MONDO:equivalentTo Genetic peripheral neuropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic peripheral neuropathy -MONDO:0020128 motor neuron disorder Orphanet:98503 MONDO:equivalentTo Motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior horn cell disease -MONDO:0020128 motor neuron disorder Orphanet:98503 MONDO:equivalentTo Motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motor neuron disease -MONDO:0020135 pontocerebellar hypoplasia Orphanet:98523 MONDO:equivalentTo Non-syndromic pontocerebellar hypoplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pontoneocerebellar atrophy -MONDO:0020257 supranuclear oculomotor palsy Orphanet:98687 MONDO:equivalentTo Supranuclear eye movement disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supranuclear eye movement disorder -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Orphanet:98849 MONDO:equivalentTo Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label systemic mastocytosis with associated hematologic neoplasm -MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Orphanet:98849 MONDO:equivalentTo Systemic mastocytosis with associated hematologic neoplasm semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease -MONDO:0020337 congenital dyserythropoietic anemia type 1 Orphanet:98869 MONDO:equivalentTo Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda i -MONDO:0020337 congenital dyserythropoietic anemia type 1 Orphanet:98869 MONDO:equivalentTo Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type 1 -MONDO:0020337 congenital dyserythropoietic anemia type 1 Orphanet:98869 MONDO:equivalentTo Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cda type i -MONDO:0020337 congenital dyserythropoietic anemia type 1 Orphanet:98869 MONDO:equivalentTo Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital dyserythropoietic anemia type 1 -MONDO:0020337 congenital dyserythropoietic anemia type 1 Orphanet:98869 MONDO:equivalentTo Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital dyserythropoietic anemia type 1 -MONDO:0020363 honey-droplet corneal dystrophy Orphanet:98958 MONDO:equivalentTo Climatic droplet keratopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym honey-droplet corneal dystrophy -MONDO:0020367 juvenile open angle glaucoma Orphanet:98977 MONDO:equivalentTo Juvenile glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile glaucoma -MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome Orphanet:99048 MONDO:equivalentTo Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym apv/pda, non-fallot type -MONDO:0020391 pulmonary artery coming from the aorta Orphanet:99050 MONDO:equivalentTo Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemitruncus arteriosus -MONDO:0020391 pulmonary artery coming from the aorta Orphanet:99050 MONDO:equivalentTo Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label abnormal origin of right or left pulmonary artery from the aorta -MONDO:0020391 pulmonary artery coming from the aorta Orphanet:99050 MONDO:equivalentTo Abnormal origin of right or left pulmonary artery from the aorta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary artery coming from the aorta -MONDO:0020420 pulmonary branch stenosis Orphanet:99084 MONDO:equivalentTo Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branch pulmonary artery stenosis -MONDO:0020420 pulmonary branch stenosis Orphanet:99084 MONDO:equivalentTo Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary branch stenosis -MONDO:0020423 stenosis or atrophy of the coronary ostium Orphanet:99087 MONDO:equivalentTo Coronary ostial stenosis or atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary ostial stenosis or atresia -MONDO:0020433 ectasia of the left appendage Orphanet:99102 MONDO:equivalentTo Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dilatation of the left atrial appendage -MONDO:0020433 ectasia of the left appendage Orphanet:99102 MONDO:equivalentTo Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dilatation of the left auricle -MONDO:0020433 ectasia of the left appendage Orphanet:99102 MONDO:equivalentTo Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectasia of the left auricle -MONDO:0020437 atrial septal defect, ostium primum type Orphanet:1330 MONDO:equivalentTo Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial atrioventricular septal defect -MONDO:0020452 inferior vena cava interruption Orphanet:99123 MONDO:equivalentTo Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inferior caval vein interruption -MONDO:0020452 inferior vena cava interruption Orphanet:99123 MONDO:equivalentTo Inferior vena cava interruption without azygos continuation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ivc interruption -MONDO:0020504 hereditary recurrent myoglobinuria Orphanet:99845 MONDO:equivalentTo Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic recurrent myoglobinuria -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenocorticotropic hormone secretion syndrome -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectopic acth secreting tumor -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectopic cushing syndrome -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym occult ectopic acth secretion -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paraneoplastic cushing syndrome -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cushing syndrome due to ectopic acth secretion -MONDO:0020527 ectopic Cushing syndrome Orphanet:99889 MONDO:equivalentTo Cushing syndrome due to ectopic ACTH secretion semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ectopic cushing syndrome MONDO:0020529 ACTH-independent Cushing syndrome Orphanet:647758 MONDO:equivalentTo Adrenal Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal cushing syndrome -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary Orphanet:99912 MONDO:equivalentTo Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysgerminomatous germ cell cancer of the ovary -MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary Orphanet:99912 MONDO:equivalentTo Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant ovarian dysgerminoma -MONDO:0020541 maligant granulosa cell tumor of ovary Orphanet:99915 MONDO:equivalentTo Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulosa cell cancer -MONDO:0020541 maligant granulosa cell tumor of ovary Orphanet:99915 MONDO:equivalentTo Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulosa cell malignant tumor -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian malignant sertoli-leydig cell tumor -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian sertoli-leydig cell cancer -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym virilizing ovarian tumor -MONDO:0020549 invasive hydatidiform mole Orphanet:99925 MONDO:equivalentTo Invasive mole semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label invasive mole -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 Orphanet:373 MONDO:equivalentTo Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 Orphanet:373 MONDO:equivalentTo Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 Orphanet:373 MONDO:equivalentTo Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 -MONDO:0020603 X-linked chondrodysplasia punctata 2 Orphanet:35173 MONDO:equivalentTo X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conradi-hünermann-happle syndrome -MONDO:0020603 X-linked chondrodysplasia punctata 2 Orphanet:35173 MONDO:equivalentTo X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked chondrodysplasia punctata type 2 -MONDO:0020720 X-linked hypophosphatemic rickets Orphanet:89936 MONDO:equivalentTo X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets -MONDO:0020720 X-linked hypophosphatemic rickets Orphanet:89936 MONDO:equivalentTo X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets -MONDO:0020721 X-linked sideroblastic anemia 1 Orphanet:75563 MONDO:equivalentTo X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked sideroblastic anemia -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 Orphanet:88949 MONDO:equivalentTo MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adtkd-muc1 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 Orphanet:88949 MONDO:equivalentTo MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym medullary cystic kidney disease type 1 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 Orphanet:88949 MONDO:equivalentTo MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muci-related adtkd -MONDO:0020732 progeria Orphanet:740 MONDO:equivalentTo Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 Orphanet:555407 MONDO:equivalentTo NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nad(p)hx epimerase deficiency -MONDO:0020783 capillary malformation-arteriovenous malformation 1 Orphanet:90307 MONDO:equivalentTo Parkes Weber syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label parkes weber syndrome -MONDO:0021001 hemochromatosis type 1 Orphanet:465508 MONDO:equivalentTo Symptomatic form of HFE-related hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symptomatic form of hemochromatosis type 1 -MONDO:0021005 faciodigitogenital syndrome Orphanet:915 MONDO:equivalentTo Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome -MONDO:0021026 hereditary epidermal appendage anomaly Orphanet:183447 MONDO:equivalentTo Genetic epidermal appendage anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic epidermal appendage anomaly -MONDO:0021029 hereditary sebaceous gland anomaly Orphanet:183460 MONDO:equivalentTo Genetic sebaceous gland anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic sebaceous gland anomaly -MONDO:0021042 glioma Orphanet:182067 MONDO:equivalentTo Glial tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioma -MONDO:0021042 glioma Orphanet:182067 MONDO:equivalentTo Glial tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glial tumor -MONDO:0021042 glioma Orphanet:182067 MONDO:equivalentTo Glial tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glioma -MONDO:0021047 breast phyllodes tumor Orphanet:180261 MONDO:equivalentTo Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the breast -MONDO:0021055 classic familial adenomatous polyposis Orphanet:733 MONDO:equivalentTo Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colorectal adenomatous polyposis -MONDO:0021055 classic familial adenomatous polyposis Orphanet:733 MONDO:equivalentTo Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial polyposis coli -MONDO:0021055 classic familial adenomatous polyposis Orphanet:733 MONDO:equivalentTo Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial adenomatous polyposis -MONDO:0021081 anti-NMDA receptor encephalitis Orphanet:217253 MONDO:equivalentTo NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anti-nmda receptor encephalitis -MONDO:0021081 anti-NMDA receptor encephalitis Orphanet:217253 MONDO:equivalentTo NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with n-methyl-d-aspartate receptor antibodies -MONDO:0021081 anti-NMDA receptor encephalitis Orphanet:217253 MONDO:equivalentTo NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limbic encephalitis with nmda receptor antibodies -MONDO:0021081 anti-NMDA receptor encephalitis Orphanet:217253 MONDO:equivalentTo NMDA receptor encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anti-nmda receptor encephalitis -MONDO:0021102 prostate phyllodes tumor Orphanet:498228 MONDO:equivalentTo Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystosarcoma phyllodes of the prostate -MONDO:0021102 prostate phyllodes tumor Orphanet:498228 MONDO:equivalentTo Phyllodes tumor of the prostate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the prostate -MONDO:0021142 acquired rippling muscle disease Orphanet:206575 MONDO:equivalentTo Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired rippling muscle disease -MONDO:0021142 acquired rippling muscle disease Orphanet:206575 MONDO:equivalentTo Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disease -MONDO:0021154 dermis disorder Orphanet:79381 MONDO:equivalentTo Other dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label other dermis disorder -MONDO:0021172 Timothy syndrome, atypical type Orphanet:595109 MONDO:equivalentTo Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lqt8 -MONDO:0021172 Timothy syndrome, atypical type Orphanet:595109 MONDO:equivalentTo Atypical Timothy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atypical timothy syndrome -MONDO:0021181 inherited blood coagulation disorder Orphanet:183654 MONDO:equivalentTo Rare genetic coagulation disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare genetic coagulation disorder -MONDO:0021281 cavernous hemangioma of retina Orphanet:71213 MONDO:equivalentTo Retinal capillary malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal cavernous hemangioma -MONDO:0021427 squamous cell carcinoma of lip Orphanet:502366 MONDO:equivalentTo Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label squamous cell carcinoma of the lip -MONDO:0021636 astrocytic tumor Orphanet:94 MONDO:equivalentTo Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytic tumor -MONDO:0021636 astrocytic tumor Orphanet:94 MONDO:equivalentTo Astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym astrocytic tumor -MONDO:0021651 synpolydactyly Orphanet:93338 MONDO:equivalentTo Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly -MONDO:0021651 synpolydactyly Orphanet:93403 MONDO:equivalentTo Syndactyly type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym synpolydactyly -MONDO:0021651 synpolydactyly Orphanet:93403 MONDO:equivalentTo Syndactyly type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndactyly type 2 -MONDO:0021651 synpolydactyly Orphanet:93403 MONDO:equivalentTo Syndactyly type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym synpolydactyly -MONDO:0021660 deep seated dermatophytosis Orphanet:397587 MONDO:equivalentTo Deep dermatophytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym disseminated granulomatous dermatophytosis -MONDO:0021660 deep seated dermatophytosis Orphanet:397587 MONDO:equivalentTo Deep dermatophytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label deep dermatophytosis -MONDO:0022173 chromosome 11q trisomy Orphanet:262923 MONDO:equivalentTo Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 11q -MONDO:0022173 chromosome 11q trisomy Orphanet:262923 MONDO:equivalentTo Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 11q -MONDO:0022173 chromosome 11q trisomy Orphanet:262923 MONDO:equivalentTo Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of the long arm of chromosome 11 -MONDO:0022173 chromosome 11q trisomy Orphanet:262923 MONDO:equivalentTo Partial duplication of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 11 -MONDO:0022174 chromosome 12p deletion Orphanet:316244 MONDO:equivalentTo Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 12p -MONDO:0022174 chromosome 12p deletion Orphanet:316244 MONDO:equivalentTo Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 12p -MONDO:0022174 chromosome 12p deletion Orphanet:316244 MONDO:equivalentTo Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 12 -MONDO:0022174 chromosome 12p deletion Orphanet:316244 MONDO:equivalentTo Partial deletion of the short arm of chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 12 -MONDO:0022177 chromosome 13q trisomy Orphanet:262932 MONDO:equivalentTo Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome 13q -MONDO:0022177 chromosome 13q trisomy Orphanet:262932 MONDO:equivalentTo Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of chromosome 13q -MONDO:0022177 chromosome 13q trisomy Orphanet:262932 MONDO:equivalentTo Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial trisomy of the long arm of chromosome 13 -MONDO:0022177 chromosome 13q trisomy Orphanet:262932 MONDO:equivalentTo Partial duplication of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial duplication of the long arm of chromosome 13 -MONDO:0022754 chromosome 17p deletion Orphanet:261965 MONDO:equivalentTo Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 17p -MONDO:0022754 chromosome 17p deletion Orphanet:261965 MONDO:equivalentTo Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 17p -MONDO:0022754 chromosome 17p deletion Orphanet:261965 MONDO:equivalentTo Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 17 -MONDO:0022754 chromosome 17p deletion Orphanet:261965 MONDO:equivalentTo Partial deletion of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 17 -MONDO:0022756 chromosome 1q deletion Orphanet:262001 MONDO:equivalentTo Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 1q -MONDO:0022756 chromosome 1q deletion Orphanet:262001 MONDO:equivalentTo Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 1q -MONDO:0022756 chromosome 1q deletion Orphanet:262001 MONDO:equivalentTo Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the long arm of chromosome 1 -MONDO:0022756 chromosome 1q deletion Orphanet:262001 MONDO:equivalentTo Partial deletion of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 1 -MONDO:0022760 chromosome 22q deletion Orphanet:262182 MONDO:equivalentTo Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 22q -MONDO:0022760 chromosome 22q deletion Orphanet:262182 MONDO:equivalentTo Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 22q -MONDO:0022760 chromosome 22q deletion Orphanet:262182 MONDO:equivalentTo Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the long arm of chromosome 22 -MONDO:0022760 chromosome 22q deletion Orphanet:262182 MONDO:equivalentTo Partial deletion of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the long arm of chromosome 22 -MONDO:0022762 chromosome 4 short arm deletion Orphanet:261884 MONDO:equivalentTo Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome 4p -MONDO:0022762 chromosome 4 short arm deletion Orphanet:261884 MONDO:equivalentTo Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome 4p -MONDO:0022762 chromosome 4 short arm deletion Orphanet:261884 MONDO:equivalentTo Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome 4 -MONDO:0022762 chromosome 4 short arm deletion Orphanet:261884 MONDO:equivalentTo Partial deletion of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome 4 -MONDO:0022851 Dennis-Fairhurst-Moore syndrome Orphanet:2109 MONDO:equivalentTo Hallermann-Streiff-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dennis-fairhurst-moore syndrome -MONDO:0022953 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency Orphanet:79101 MONDO:equivalentTo Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym delta-1-pyrroline-5-carboxylate dehydrogenase deficiency -MONDO:0023122 familial prostate carcinoma Orphanet:1331 MONDO:equivalentTo Familial prostate cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial prostate cancer -MONDO:0023188 Freiberg disease Orphanet:564003 MONDO:equivalentTo Osteochondrosis of the metatarsal bone semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym freiberg disease -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning pancreatic net -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning pancreatic neuroendocrine tumor -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning pnet -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated nen of pancreas -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated neuroendocrine neoplasm of pancreas -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated pancreatic nen -MONDO:0023206 functional pancreatic neuroendocrine tumor Orphanet:506060 MONDO:equivalentTo Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym functioning well-differentiated pancreatic neuroendocrine neoplasm -MONDO:0023275 Graham-Boyle-Troxell syndrome Orphanet:2111 MONDO:equivalentTo Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graham-boyle-troxell syndrome -MONDO:0023275 Graham-Boyle-Troxell syndrome Orphanet:2111 MONDO:equivalentTo Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cystic hamartoma of lung and kidney -MONDO:0023275 Graham-Boyle-Troxell syndrome Orphanet:2111 MONDO:equivalentTo Cystic hamartoma of lung and kidney semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graham-boyle-troxell syndrome -MONDO:0023865 corneal infection Orphanet:519278 MONDO:equivalentTo Infective keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infective keratitis -MONDO:0023910 Martsolf syndrome Orphanet:1387 MONDO:equivalentTo Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome -MONDO:0024237 inherited neurodegenerative disorder Orphanet:183500 MONDO:equivalentTo Genetic neurodegenerative disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic neurodegenerative disease -MONDO:0024251 Minamata disease Orphanet:1917 MONDO:equivalentTo Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minamata disease -MONDO:0024257 hereditary motor neuron disease Orphanet:98505 MONDO:equivalentTo Genetic motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym genetic anterior horn cell disease -MONDO:0024257 hereditary motor neuron disease Orphanet:98505 MONDO:equivalentTo Genetic motor neuron disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic motor neuron disease -MONDO:0024307 prothrombin deficiency Orphanet:325 MONDO:equivalentTo Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prothrombin deficiency -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) Orphanet:758 MONDO:equivalentTo Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0024457 neurodegeneration with brain iron accumulation 2A Orphanet:35069 MONDO:equivalentTo Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inad -MONDO:0024457 neurodegeneration with brain iron accumulation 2A Orphanet:35069 MONDO:equivalentTo Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phospholipase a2-associated neurodegeneration -MONDO:0024457 neurodegeneration with brain iron accumulation 2A Orphanet:35069 MONDO:equivalentTo Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile neuroaxonal dystrophy -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 Orphanet:440392 MONDO:equivalentTo Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disease due to surfactant protein c deficiency -MONDO:0024472 boutonneuse fever Orphanet:101334 MONDO:equivalentTo African tick typhus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label african tick typhus -MONDO:0024503 digestive system neuroendocrine neoplasm Orphanet:100092 MONDO:equivalentTo Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroenteropancreatic neuroendocrine neoplasm -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor Orphanet:506090 MONDO:equivalentTo Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serotonin-producing pancreatic net -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor Orphanet:506090 MONDO:equivalentTo Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serotonin-producing pancreatic neuroendocrine tumor -MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor Orphanet:506090 MONDO:equivalentTo Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serotonin-producing pnet -MONDO:0024525 Fanconi renotubular syndrome 1 Orphanet:3337 MONDO:equivalentTo Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym detoni-debré-fanconi syndrome -MONDO:0024525 Fanconi renotubular syndrome 1 Orphanet:3337 MONDO:equivalentTo Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary fanconi renal syndrome -MONDO:0024525 Fanconi renotubular syndrome 1 Orphanet:3337 MONDO:equivalentTo Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary fanconi renotubular syndrome -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 Orphanet:572543 MONDO:equivalentTo RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riboflavin transporter deficiency 2 -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 Orphanet:572543 MONDO:equivalentTo RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rtd2 -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 Orphanet:572543 MONDO:equivalentTo RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rfvt2-related riboflavin transporter deficiency -MONDO:0024548 peeling skin syndrome 1 Orphanet:263553 MONDO:equivalentTo Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized peeling skin syndrome type b -MONDO:0024548 peeling skin syndrome 1 Orphanet:263553 MONDO:equivalentTo Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory peeling skin syndrome -MONDO:0024548 peeling skin syndrome 1 Orphanet:263553 MONDO:equivalentTo Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome 1 -MONDO:0024548 peeling skin syndrome 1 Orphanet:263553 MONDO:equivalentTo Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pss type b -MONDO:0024548 peeling skin syndrome 1 Orphanet:263553 MONDO:equivalentTo Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type b -MONDO:0024548 peeling skin syndrome 1 Orphanet:263553 MONDO:equivalentTo Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peeling skin syndrome 1 -MONDO:0024637 malignant soft tissue neoplasm Orphanet:3394 MONDO:equivalentTo Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant soft tissue tumor -MONDO:0024677 pancreatic insulinoma Orphanet:97279 MONDO:equivalentTo Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma -MONDO:0024686 tenosynovial giant cell tumor, diffuse type Orphanet:66627 MONDO:equivalentTo Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmented villonodular synovitis -MONDO:0025102 monkey disease Orphanet:319254 MONDO:equivalentTo Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monkey disease -MONDO:0025102 monkey disease Orphanet:319254 MONDO:equivalentTo Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monkey disease -MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 Orphanet:565837 MONDO:equivalentTo Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laminin subunit alpha 2-related limb-girdle muscular dystrophy r23 -MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome -MONDO:0030012 Diets-Jongmans syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome -MONDO:0030045 Liberfarb syndrome Orphanet:589442 MONDO:equivalentTo Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liberfarb syndrome -MONDO:0030045 Liberfarb syndrome Orphanet:589442 MONDO:equivalentTo Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome -MONDO:0030045 Liberfarb syndrome Orphanet:589442 MONDO:equivalentTo Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liberfarb syndrome -MONDO:0030105 galactosemia 4 Orphanet:570422 MONDO:equivalentTo Galactose mutarotase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label galactose mutarotase deficiency -MONDO:0030639 Teebi hypertelorism syndrome Orphanet:1519 MONDO:equivalentTo SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome MONDO:0030880 mandibuloacral dysplasia progeroid syndrome Orphanet:647667 MONDO:equivalentTo Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mandibuloacral dysplasia associated to mtx2 MONDO:0030880 mandibuloacral dysplasia progeroid syndrome Orphanet:647667 MONDO:equivalentTo Mandibuloacral dysplasia associated to MTX2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mandibuloacral dysplasia progeroid syndrome -MONDO:0030894 AMED syndrome, digenic Orphanet:611216 MONDO:equivalentTo Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amed syndrome -MONDO:0030894 AMED syndrome, digenic Orphanet:611216 MONDO:equivalentTo Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aplastic anemia-intellectual disability-dwarfism syndrome -MONDO:0030898 immunodeficiency 76 Orphanet:647804 MONDO:equivalentTo Combined immunodeficiency due to FCHO1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined immunodeficiency due to fcho1 deficiency -MONDO:0030912 intellectual disability, autosomal dominant 47 Orphanet:502434 MONDO:equivalentTo STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome -MONDO:0031002 Baralle-Macken syndrome Orphanet:633035 MONDO:equivalentTo Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome -MONDO:0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis Orphanet:611207 MONDO:equivalentTo Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shilca syndrome -MONDO:0031008 nephrotic syndrome, type 24 Orphanet:567548 MONDO:equivalentTo Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic srns -MONDO:0031008 nephrotic syndrome, type 24 Orphanet:567548 MONDO:equivalentTo Idiopathic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic steroid-resistant nephrotic syndrome -MONDO:0031037 famililal cerebral cavernous malformations Orphanet:221061 MONDO:equivalentTo Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial brain cavernous angioma -MONDO:0031037 famililal cerebral cavernous malformations Orphanet:221061 MONDO:equivalentTo Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial cerebral cavernoma -MONDO:0031037 famililal cerebral cavernous malformations Orphanet:221061 MONDO:equivalentTo Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary brain cavernous angioma -MONDO:0031037 famililal cerebral cavernous malformations Orphanet:221061 MONDO:equivalentTo Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cerebral cavernoma -MONDO:0031037 famililal cerebral cavernous malformations Orphanet:221061 MONDO:equivalentTo Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary cerebral cavernous malformation -MONDO:0031037 famililal cerebral cavernous malformations Orphanet:221061 MONDO:equivalentTo Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial cerebral cavernous malformation -MONDO:0031322 triopia Orphanet:3374 MONDO:equivalentTo Unilateral ocular duplication semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym triopia -MONDO:0031421 Olmsted syndrome Orphanet:659 MONDO:equivalentTo Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques -MONDO:0031421 Olmsted syndrome Orphanet:659 MONDO:equivalentTo Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma -MONDO:0031421 Olmsted syndrome Orphanet:659 MONDO:equivalentTo Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome -MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 Orphanet:306558 MONDO:equivalentTo Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary microcephaly-epilepsy-permanent neonatal diabetes syndrome -MONDO:0032600 Snijders Blok-Campeau syndrome Orphanet:599082 MONDO:equivalentTo CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym snijders blok-campeau syndrome -MONDO:0032643 pontocerebellar hypoplasia, type 12 Orphanet:611256 MONDO:equivalentTo Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia -MONDO:0032678 developmental and epileptic encephalopathy, 71 Orphanet:557064 MONDO:equivalentTo Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal epileptic encephalopathy due to glutaminase deficiency -MONDO:0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome Orphanet:636941 MONDO:equivalentTo Vascular Ehlers-Danlos-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular ehlers-danlos-polymicrogyria syndrome -MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Orphanet:597874 MONDO:equivalentTo MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mthfs-related developmental delay-microcephaly-short stature-epilepsy syndrome -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate Orphanet:615964 MONDO:equivalentTo Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute reversible leukoencephalopathy due to slc13a3 deficiency -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate Orphanet:615964 MONDO:equivalentTo Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate Orphanet:615964 MONDO:equivalentTo Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate -MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 Orphanet:642085 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type -MONDO:0032737 spastic paraplegia 80, autosomal dominant Orphanet:631068 MONDO:equivalentTo Autosomal dominant spastic paraplegia type 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spastic paraplegia type 80 -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant Orphanet:477749 MONDO:equivalentTo Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pontine autosomal dominant microangiopathy with leukoencephalopathy -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 Orphanet:99832 MONDO:equivalentTo Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 Orphanet:99832 MONDO:equivalentTo Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 Orphanet:99832 MONDO:equivalentTo Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label resistance to thyrotropin-releasing hormone syndrome -MONDO:0032906 spastic paraplegia 82, autosomal recessive Orphanet:631073 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 82 -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Orphanet:615954 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal Orphanet:615954 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome -MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G Orphanet:476394 MONDO:equivalentTo PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pmp2-related charcot-marie-tooth disease type 1 -MONDO:0033203 nephrotic syndrome 14 Orphanet:506334 MONDO:equivalentTo Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency -MONDO:0033482 spinocerebellar ataxia 47 Orphanet:642747 MONDO:equivalentTo PUM1-related cerebellar ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pum1-related cerebellar ataxia -MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Orphanet:641353 MONDO:equivalentTo Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome -MONDO:0033614 spastic paraplegia 83, autosomal recessive Orphanet:631076 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spastic paraplegia type 83 -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities Orphanet:544488 MONDO:equivalentTo Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bachmann-bupp syndrome -MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities Orphanet:544488 MONDO:equivalentTo Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome -MONDO:0033816 thygeson superficial punctate keratopathy Orphanet:519406 MONDO:equivalentTo Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thygeson superficial punctate keratopathy -MONDO:0034022 Bethlem myopathy 2 Orphanet:536516 MONDO:equivalentTo Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathic eds -MONDO:0034022 Bethlem myopathy 2 Orphanet:536516 MONDO:equivalentTo Myopathic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathic ehlers-danlos syndrome -MONDO:0034106 developmental and epileptic encephalopathy, 73 Orphanet:544503 MONDO:equivalentTo RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rnf13-related severe early-onset epileptic encephalopathy -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 Orphanet:585867 MONDO:equivalentTo Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 Orphanet:585867 MONDO:equivalentTo Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with bcr-abl1 -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 Orphanet:585867 MONDO:equivalentTo Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aml with t(9;22)(q34.1;q11.2) -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 Orphanet:585867 MONDO:equivalentTo Acute myeloid leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with t(9;22)(q34.1;q11.2) -MONDO:0035423 triglyceride deposit cardiomyovasculopathy Orphanet:565612 MONDO:equivalentTo Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neutral lipid storage disease with severe cardiovascular involvement -MONDO:0035423 triglyceride deposit cardiomyovasculopathy Orphanet:565612 MONDO:equivalentTo Primary triglyceride deposit cardiomyovasculopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tgcv -MONDO:0035824 KLHL7-related cold-induced sweating-like syndrome Orphanet:603694 MONDO:equivalentTo KLHL7-related Crisponi/cold-induced sweating-like syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klhl7-related crisponi-like syndrome -MONDO:0036595 ovarian Sertoli-Leydig cell tumor Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma -MONDO:0036595 ovarian Sertoli-Leydig cell tumor Orphanet:99916 MONDO:equivalentTo Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma -MONDO:0037792 carbohydrate metabolism disease Orphanet:79161 MONDO:equivalentTo Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate metabolism -MONDO:0037807 glycerol metabolism disease Orphanet:79179 MONDO:equivalentTo Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of glycerol metabolism -MONDO:0037829 purine metabolism disease Orphanet:79191 MONDO:equivalentTo Disorder of purine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of purine metabolism -MONDO:0037937 pyrimidine metabolism disease Orphanet:79193 MONDO:equivalentTo Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of pyrimidine metabolism -MONDO:0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:471383 MONDO:equivalentTo Genetic lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0044067 candidiasis, invasive Orphanet:636945 MONDO:equivalentTo Invasive Candidiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label invasive candidiasis -MONDO:0044202 episodic kinesigenic dyskinesia Orphanet:98809 MONDO:equivalentTo Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial paroxysmal kinesigenic dyskinesia -MONDO:0044202 episodic kinesigenic dyskinesia Orphanet:98809 MONDO:equivalentTo Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial pkd -MONDO:0044202 episodic kinesigenic dyskinesia Orphanet:98809 MONDO:equivalentTo Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxysmal kinesigenic choreathetosis -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Orphanet:646278 MONDO:equivalentTo CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cdk13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome -MONDO:0044323 Rahman syndrome Orphanet:642763 MONDO:equivalentTo Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rahman syndrome -MONDO:0044323 Rahman syndrome Orphanet:642763 MONDO:equivalentTo Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to h1-4 mutation -MONDO:0044323 Rahman syndrome Orphanet:642763 MONDO:equivalentTo Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rahman syndrome -MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome Orphanet:3200 MONDO:equivalentTo Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stoll-alembik-finck syndrome -MONDO:0044699 SIN3A-related intellectual disability syndrome Orphanet:500163 MONDO:equivalentTo Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sin3a-related intellectual disability syndrome -MONDO:0044705 paranasal sinus squamous cell carcinoma Orphanet:500464 MONDO:equivalentTo Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym squamous cell carcinoma of the nasal cavity and sinuses -MONDO:0044727 pancreatic carcinoma with mixed differentiation Orphanet:506112 MONDO:equivalentTo Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym minen of pancreas -MONDO:0044727 pancreatic carcinoma with mixed differentiation Orphanet:506112 MONDO:equivalentTo Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic minen -MONDO:0044727 pancreatic carcinoma with mixed differentiation Orphanet:506112 MONDO:equivalentTo Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm -MONDO:0044738 Gabriele de Vries syndrome Orphanet:506358 MONDO:equivalentTo Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yy1 haploinsufficiency syndrome -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas Orphanet:424065 MONDO:equivalentTo Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas Orphanet:424065 MONDO:equivalentTo Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas -MONDO:0044807 inherited dystonia Orphanet:391799 MONDO:equivalentTo Rare genetic dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rare genetic dystonic disorder -MONDO:0044807 inherited dystonia Orphanet:391799 MONDO:equivalentTo Rare genetic dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rare genetic dystonia -MONDO:0044811 idiopathic torsion dystonia Orphanet:256 MONDO:equivalentTo Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0044811 idiopathic torsion dystonia Orphanet:256 MONDO:equivalentTo Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0044876 drug hypersensitivity syndrome Orphanet:139402 MONDO:equivalentTo Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drug reaction with eosinophilia and systemic symptoms -MONDO:0054559 congenital disorder of glycosylation, type IIq Orphanet:435934 MONDO:equivalentTo COG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cog2-related congenital disorder of glycosylation -MONDO:0054636 Skraban-Deardorff syndrome Orphanet:513456 MONDO:equivalentTo Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym skraban-deardorff syndrome -MONDO:0054636 Skraban-Deardorff syndrome Orphanet:513456 MONDO:equivalentTo Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym skraban-deardorff syndrome -MONDO:0054669 pontocerebellar hypoplasia, type 11 Orphanet:611247 MONDO:equivalentTo Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pontocerebellar hypoplasia due to tbc1d23 -MONDO:0054680 epiphyseal dysplasia, multiple, 7 Orphanet:647676 MONDO:equivalentTo Multiple epiphyseal dysplasia type 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple epiphyseal dysplasia type 7 -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 Orphanet:569290 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pmpcb deficiency -MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 Orphanet:569290 MONDO:equivalentTo Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 6 -MONDO:0060532 congenital heart defects and skeletal malformations syndrome Orphanet:643503 MONDO:equivalentTo Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome -MONDO:0060564 HELIX syndrome Orphanet:528105 MONDO:equivalentTo Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym helix syndrome -MONDO:0060564 HELIX syndrome Orphanet:528105 MONDO:equivalentTo Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome -MONDO:0060564 HELIX syndrome Orphanet:528105 MONDO:equivalentTo Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym helix syndrome -MONDO:0060568 Pilarowski-Bjornsson syndrome Orphanet:529965 MONDO:equivalentTo Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilarowski-bjornsson syndrome -MONDO:0060568 Pilarowski-Bjornsson syndrome Orphanet:529965 MONDO:equivalentTo Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pilarowski-bjornsson syndrome -MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language Orphanet:647788 MONDO:equivalentTo Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome -MONDO:0060631 Alkuraya-Kucinskas syndrome Orphanet:610569 MONDO:equivalentTo KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkuraya-kucinskas syndrome -MONDO:0060631 Alkuraya-Kucinskas syndrome Orphanet:610569 MONDO:equivalentTo KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkuraya-kucinskas syndrome -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Orphanet:597623 MONDO:equivalentTo IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label irf2bpl-related regressive neurodevelopmental disorder-dystonia-seizures syndrome -MONDO:0100025 epilepsy of infancy with migrating focal seizures Orphanet:293181 MONDO:equivalentTo Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy of infancy with migrating focal seizures -MONDO:0100038 complex neurodevelopmental disorder Orphanet:528084 MONDO:equivalentTo Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex neurodevelopmental disorder -MONDO:0100038 complex neurodevelopmental disorder Orphanet:528084 MONDO:equivalentTo Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complex neurodevelopmental disorder -MONDO:0100062 developmental and epileptic encephalopathy Orphanet:1934 MONDO:equivalentTo Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym early infantile epileptic encephalopathy with suppression-bursts -MONDO:0100062 developmental and epileptic encephalopathy Orphanet:1934 MONDO:equivalentTo Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ohtahara syndrome -MONDO:0100062 developmental and epileptic encephalopathy Orphanet:1934 MONDO:equivalentTo Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early infantile epileptic encephalopathy -MONDO:0100064 tyrosine hydroxylase deficiency Orphanet:101150 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100064 tyrosine hydroxylase deficiency Orphanet:101150 MONDO:equivalentTo Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 Orphanet:71290 MONDO:equivalentTo Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy -MONDO:0100087 familial Alzheimer disease Orphanet:1020 MONDO:equivalentTo Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial alzheimer disease -MONDO:0100101 fetal akinesia deformation sequence 1 Orphanet:994 MONDO:equivalentTo Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pena-shokeir syndrome type 1 -MONDO:0100126 P5CS deficiency Orphanet:35664 MONDO:equivalentTo ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym p5cs deficiency -MONDO:0100126 P5CS deficiency Orphanet:35664 MONDO:equivalentTo ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym p5cs deficiency -MONDO:0100133 mitochondrial complex I deficiency Orphanet:2609 MONDO:equivalentTo Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex i deficiency -MONDO:0100133 mitochondrial complex I deficiency Orphanet:2609 MONDO:equivalentTo Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nadh-coenzyme q reductase deficiency -MONDO:0100133 mitochondrial complex I deficiency Orphanet:2609 MONDO:equivalentTo Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nadh-coq reductase deficiency -MONDO:0100133 mitochondrial complex I deficiency Orphanet:2609 MONDO:equivalentTo Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated nadh-ubiquinone reductase deficiency -MONDO:0100133 mitochondrial complex I deficiency Orphanet:2609 MONDO:equivalentTo Isolated complex I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated complex i deficiency -MONDO:0100144 Uner Tan Syndrome Orphanet:1766 MONDO:equivalentTo Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uner tan syndrome -MONDO:0100147 SATB2 associated disorder Orphanet:576278 MONDO:equivalentTo SATB2-associated syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label satb2-associated syndrome -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 Orphanet:67046 MONDO:equivalentTo 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mga1 -MONDO:0100164 permanent neonatal diabetes mellitus Orphanet:99885 MONDO:equivalentTo Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monogenic diabetes of infancy -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia Orphanet:2102 MONDO:equivalentTo GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gtpch deficiency -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia Orphanet:2102 MONDO:equivalentTo GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphenylalaninemia due to gtp cyclohydrolase deficiency -MONDO:0100194 pregnancy associated osteoporosis Orphanet:647823 MONDO:equivalentTo Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pregnancy and lactation-associated osteoporosis -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive Orphanet:220465 MONDO:equivalentTo Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laron-like syndrome -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive Orphanet:220465 MONDO:equivalentTo Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym short stature due to stat5b deficiency -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive Orphanet:220465 MONDO:equivalentTo Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laron syndrome with immunodeficiency -MONDO:0100212 IFAP syndrome Orphanet:2273 MONDO:equivalentTo Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ifap syndrome -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome Orphanet:2273 MONDO:equivalentTo Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis follicularis-atrichia-photophobia syndrome -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome Orphanet:2273 MONDO:equivalentTo Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis follicularis-alopecia-photophobia syndrome -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 Orphanet:178506 MONDO:equivalentTo Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain calcification, rajab type -MONDO:0100228 LAMA2-related muscular dystrophy Orphanet:207094 MONDO:equivalentTo Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lama2-related muscular dystrophy -MONDO:0100228 LAMA2-related muscular dystrophy Orphanet:207094 MONDO:equivalentTo Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lama2-related muscular dystrophy -MONDO:0100234 paroxysmal familial ventricular fibrillation Orphanet:228140 MONDO:equivalentTo Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic ventricular fibrillation, non brugada type -MONDO:0100249 46,XX testicular disorder of sex development Orphanet:393 MONDO:equivalentTo 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development -MONDO:0100249 46,XX testicular disorder of sex development Orphanet:393 MONDO:equivalentTo 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular dsd -MONDO:0100249 46,XX testicular disorder of sex development Orphanet:393 MONDO:equivalentTo 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym de la chapelle syndrome -MONDO:0100249 46,XX testicular disorder of sex development Orphanet:393 MONDO:equivalentTo 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xx, male syndrome -MONDO:0100249 46,XX testicular disorder of sex development Orphanet:393 MONDO:equivalentTo 46,XX testicular difference of sex development semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development -MONDO:0100253 Roberts-SC phocomelia syndrome Orphanet:3103 MONDO:equivalentTo Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudothalidomide syndrome -MONDO:0100253 Roberts-SC phocomelia syndrome Orphanet:3103 MONDO:equivalentTo Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roberts-sc phocomelia syndrome -MONDO:0100253 Roberts-SC phocomelia syndrome Orphanet:3103 MONDO:equivalentTo Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label roberts syndrome -MONDO:0100253 Roberts-SC phocomelia syndrome Orphanet:3103 MONDO:equivalentTo Roberts syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts-sc phocomelia syndrome -MONDO:0100255 adenosine kinase deficiency Orphanet:289290 MONDO:equivalentTo Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adk hypermethioninemia -MONDO:0100255 adenosine kinase deficiency Orphanet:289290 MONDO:equivalentTo Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypermethioninemia encephalopathy due to adk deficiency -MONDO:0100255 adenosine kinase deficiency Orphanet:289290 MONDO:equivalentTo Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypermethioninemia encephalopathy due to adenosine kinase deficiency -MONDO:0100280 Waldenstrom macroglobulinemia Orphanet:33226 MONDO:equivalentTo Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waldenström macroglobulinemia -MONDO:0100288 enhanced S-cone syndrome Orphanet:53540 MONDO:equivalentTo Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enhanced s-cone syndrome -MONDO:0100288 enhanced S-cone syndrome Orphanet:53540 MONDO:equivalentTo Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym enhanced s-cone syndrome -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 Orphanet:3208 MONDO:equivalentTo Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex ii deficiency -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 Orphanet:3208 MONDO:equivalentTo Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated succinate-coenzyme q reductase deficiency -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 Orphanet:3208 MONDO:equivalentTo Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym isolated succinate-ubiquinone reductase deficiency -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 Orphanet:3208 MONDO:equivalentTo Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label isolated succinate-coq reductase deficiency -MONDO:0100325 odontochondrodysplasia 1 Orphanet:166272 MONDO:equivalentTo Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome -MONDO:0100325 odontochondrodysplasia 1 Orphanet:166272 MONDO:equivalentTo Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldblatt chondrodysplasia -MONDO:0100325 odontochondrodysplasia 1 Orphanet:166272 MONDO:equivalentTo Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym goldblatt syndrome -MONDO:0100327 hypercholanemia, familial Orphanet:238475 MONDO:equivalentTo Familial hypercholanemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypercholanemia -MONDO:0100344 Bartter disease type 1 Orphanet:620217 MONDO:equivalentTo Bartter syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 1 -MONDO:0100349 COACH syndrome Orphanet:1454 MONDO:equivalentTo Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis -MONDO:0100349 COACH syndrome Orphanet:1454 MONDO:equivalentTo Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gentile syndrome -MONDO:0100349 COACH syndrome Orphanet:1454 MONDO:equivalentTo Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome with congenital hepatic fibrosis -MONDO:0100349 COACH syndrome Orphanet:1454 MONDO:equivalentTo Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym js-h -MONDO:0100349 COACH syndrome Orphanet:1454 MONDO:equivalentTo Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label joubert syndrome with hepatic defect -MONDO:0100349 COACH syndrome Orphanet:1454 MONDO:equivalentTo Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coach syndrome -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 Orphanet:139536 MONDO:equivalentTo Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 Orphanet:139536 MONDO:equivalentTo Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 Orphanet:139536 MONDO:equivalentTo Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal spinal muscular atrophy type 5 -MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 Orphanet:2241 MONDO:equivalentTo Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berdon syndrome -MONDO:0100435 Schwartz-Jampel syndrome type 1 Orphanet:800 MONDO:equivalentTo Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 -MONDO:0100435 Schwartz-Jampel syndrome type 1 Orphanet:800 MONDO:equivalentTo Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 -MONDO:0100450 CAPN5-related vitreoretinopathy Orphanet:329211 MONDO:equivalentTo Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant neovascular inflammatory vitreoretinopathy -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Orphanet:251262 MONDO:equivalentTo Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondritis dissecans and short stature -MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to Orphanet:79087 MONDO:equivalentTo Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome -MONDO:0100501 body-stalk anomaly Orphanet:2369 MONDO:equivalentTo Limb body wall complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym body stalk anomaly -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) Orphanet:585956 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) -MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) Orphanet:585956 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label b-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) -MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex Orphanet:322 MONDO:equivalentTo Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex -MONDO:0700081 newborn respiratory distress syndrome Orphanet:70587 MONDO:equivalentTo Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disease -MONDO:0700081 newborn respiratory distress syndrome Orphanet:70587 MONDO:equivalentTo Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant ards -MONDO:0700081 newborn respiratory distress syndrome Orphanet:70587 MONDO:equivalentTo Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome Orphanet:70587 MONDO:equivalentTo Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome Orphanet:70587 MONDO:equivalentTo Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome -MONDO:0700088 paroxysmal nonkinesigenic dyskinesia Orphanet:98810 MONDO:equivalentTo Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxystic non-kinesigenic choreoathetosis -MONDO:0700126 trisomy 21 Orphanet:870 MONDO:equivalentTo Down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy 21 -MONDO:0800025 Teebi hypertelorism syndrome 1 Orphanet:1519 MONDO:equivalentTo SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachycephalofrontonasal dysplasia -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Orphanet:661 MONDO:equivalentTo Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital central alveolar hypoventilation syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Orphanet:661 MONDO:equivalentTo Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine curse -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Orphanet:661 MONDO:equivalentTo Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Orphanet:661 MONDO:equivalentTo Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital central hypoventilation syndrome -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 Orphanet:313808 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset leukoencephalopathy with axonal spheroids and pigmented glia -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 Orphanet:313808 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant leukoencephalopathy with neuroaxonal spheroids -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 Orphanet:313808 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial dementia, neumann type -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 Orphanet:313808 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial progressive subcortical gliosis -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 Orphanet:313808 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pigmentary orthochromatic leukodystrophy -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 Orphanet:313808 MONDO:equivalentTo Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical gliosis of neumann -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 Orphanet:2300 MONDO:equivalentTo Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 Orphanet:436252 MONDO:equivalentTo Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid-mia/early-onset ibd -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 Orphanet:436252 MONDO:equivalentTo Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined immunodeficiency-enteropathy spectrum -MONDO:0800042 restrictive dermopathy 1 Orphanet:1662 MONDO:equivalentTo Restrictive dermopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lethal restrictive dermopathy -MONDO:0800043 Stüve-Wiedemann syndrome 1 Orphanet:3206 MONDO:equivalentTo Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal schwartz-jampel syndrome -MONDO:0800043 Stüve-Wiedemann syndrome 1 Orphanet:3206 MONDO:equivalentTo Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 2 -MONDO:0800043 Stüve-Wiedemann syndrome 1 Orphanet:3206 MONDO:equivalentTo Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stüve-wiedemann dysplasia -MONDO:0800044 congenital disorder of deglycosylation 1 Orphanet:404454 MONDO:equivalentTo Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ngly1 deficiency -MONDO:0800044 congenital disorder of deglycosylation 1 Orphanet:404454 MONDO:equivalentTo Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ngly1-cddg -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 Orphanet:476102 MONDO:equivalentTo Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym behçet-like disease due to ha20 -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 Orphanet:476102 MONDO:equivalentTo Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym behçet-like disease due to haploinsufficiency of a20 -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 Orphanet:476102 MONDO:equivalentTo Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary pediatric behçet-like disease -MONDO:0800046 thyroid hormone metabolism, abnormal 1 Orphanet:171706 MONDO:equivalentTo Short stature-delayed bone age due to thyroid hormone metabolism deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label short stature-delayed bone age due to thyroid hormone metabolism deficiency -MONDO:0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy Orphanet:498445 MONDO:equivalentTo Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic inflammatory or rheumatoid-like osteoarthropathy -MONDO:0800113 necrotizing vasculitis Orphanet:52759 MONDO:equivalentTo Vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic vasculitis -MONDO:0800120 Mac-Leod-Swyer-James-Syndrome Orphanet:800 MONDO:equivalentTo Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs -MONDO:0800167 Knobloch syndrome 1 Orphanet:1571 MONDO:equivalentTo Knobloch syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym knobloch-layer syndrome -MONDO:0800167 Knobloch syndrome 1 Orphanet:1571 MONDO:equivalentTo Knobloch syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal detachment-occipital encephalocele syndrome -MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile Orphanet:168491 MONDO:equivalentTo Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lincl -MONDO:0800305 myelofibrosis with myeloid metaplasia Orphanet:824 MONDO:equivalentTo Primary myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia -MONDO:0800307 de la Chapelle dysplasia Orphanet:56304 MONDO:equivalentTo Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym de la chapelle dysplasia -MONDO:0800412 yakut short stature syndrome Orphanet:2616 MONDO:equivalentTo 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 Orphanet:1394 MONDO:equivalentTo Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pascual-castroviejo syndrome type 1 -MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 Orphanet:1394 MONDO:equivalentTo Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrofaciothoracic dysplasia -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 Orphanet:1358 MONDO:equivalentTo Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy-moebius-robin syndrome -MONDO:0800448 leukoencephalopathy with vanishing white matter Orphanet:135 MONDO:equivalentTo CACH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym childhood ataxia with diffuse central nervous system hypomyelination -MONDO:0800448 leukoencephalopathy with vanishing white matter Orphanet:135 MONDO:equivalentTo CACH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0800448 leukoencephalopathy with vanishing white matter Orphanet:135 MONDO:equivalentTo CACH syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelinosis centralis diffusa -MONDO:0800448 leukoencephalopathy with vanishing white matter Orphanet:135 MONDO:equivalentTo CACH syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome Orphanet:637013 MONDO:equivalentTo SMARCA2-related blepharophimosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label smarca2-related blepharophimosis-intellectual disability syndrome -MONDO:0859150 BDV syndrome Orphanet:633028 MONDO:equivalentTo CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome -MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects Orphanet:641361 MONDO:equivalentTo Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome -MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency Orphanet:633099 MONDO:equivalentTo PAICS deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphoribosylaminoimidazole carboxylase deficiency -MONDO:0859598 erythroleukemia Orphanet:318 MONDO:equivalentTo Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythroleukemia -MONDO:0957003 hereditary neuro-ophthalmological disease Orphanet:183616 MONDO:equivalentTo Genetic neuro-ophthalmological disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic neuro-ophthalmological disease -MONDO:0957008 hereditary cerebral malformation Orphanet:269553 MONDO:equivalentTo Genetic cerebral malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic cerebral malformation -MONDO:0957097 hereditary hemolytic uremic syndrome Orphanet:576742 MONDO:equivalentTo Genetic hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label genetic hemolytic uremic syndrome -MONDO:8000006 WHIM syndrome 1 Orphanet:51636 MONDO:equivalentTo WHIM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warts-hypogammaglobulinemia-infections-myelokathexis syndrome -MONDO:8000006 WHIM syndrome 1 Orphanet:51636 MONDO:equivalentTo WHIM syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warts-infections-leukopenia-myelokatexis syndrome -MONDO:8000008 Martsolf syndrome 1 Orphanet:1387 MONDO:equivalentTo Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cataract-intellectual disability-hypogonadism syndrome -MONDO:8000015 46,XY sex reversal 11 Orphanet:983 MONDO:equivalentTo Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome -MONDO:8000015 46,XY sex reversal 11 Orphanet:983 MONDO:equivalentTo Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vanishing testes syndrome -MONDO:8000015 46,XY sex reversal 11 Orphanet:983 MONDO:equivalentTo Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vanishing testis syndrome -MONDO:8000015 46,XY sex reversal 11 Orphanet:983 MONDO:equivalentTo Testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label testicular regression syndrome +MONDO:0032830 snijders blok-fisher syndrome Orphanet:656135 MONDO:equivalentTo Intellectual disability-cupped ears syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym snijders blok-fisher syndrome +MONDO:0032882 Heyn-Sproul-Jackson syndrome Orphanet:658595 MONDO:equivalentTo DNMT3A-related microcephalic dwarfism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heyn-sproul-jackson syndrome diff --git a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv index 2fa5c585..1924647b 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv @@ -1,6079 +1,9 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000001 disease Orphanet:377788 MONDO:equivalentTo Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disease -MONDO:0000087 polymicrogyria Orphanet:35981 MONDO:equivalentTo Polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria -MONDO:0000107 auriculocondylar syndrome Orphanet:137888 MONDO:equivalentTo Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auriculocondylar syndrome -MONDO:0000110 bifid nose Orphanet:2695 MONDO:equivalentTo Bifid nose semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bifid nose -MONDO:0000127 geleophysic dysplasia Orphanet:2623 MONDO:equivalentTo Geleophysic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geleophysic dysplasia -MONDO:0000128 giant axonal neuropathy Orphanet:643 MONDO:equivalentTo Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy -MONDO:0000136 keratosis follicularis spinulosa decalvans Orphanet:2340 MONDO:equivalentTo Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis spinulosa decalvans -MONDO:0000141 mosaic variegated aneuploidy syndrome Orphanet:1052 MONDO:equivalentTo Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome -MONDO:0000153 transposition of the great arteries Orphanet:216675 MONDO:equivalentTo Transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transposition of the great arteries -MONDO:0000179 Neu-Laxova syndrome Orphanet:2671 MONDO:equivalentTo Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neu-laxova syndrome -MONDO:0000200 Zimmermann-Laband syndrome Orphanet:3473 MONDO:equivalentTo Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zimmermann-laband syndrome -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures Orphanet:486811 MONDO:equivalentTo Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prenatal-onset spinal muscular atrophy with congenital bone fractures -MONDO:0000463 Ochoa syndrome Orphanet:2704 MONDO:equivalentTo Ochoa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ochoa syndrome -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia Orphanet:52430 MONDO:equivalentTo Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myopathy with paget disease of bone and frontotemporal dementia -MONDO:0000565 infective endocarditis Orphanet:570762 MONDO:equivalentTo Infective endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infective endocarditis -MONDO:0000736 dyschromatosis universalis hereditaria Orphanet:241 MONDO:equivalentTo Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis universalis hereditaria -MONDO:0000754 anal fistula Orphanet:228113 MONDO:equivalentTo Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula -MONDO:0000903 myoclonus-dystonia syndrome Orphanet:36899 MONDO:equivalentTo Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonus-dystonia syndrome -MONDO:0001032 Mooren ulcer Orphanet:519408 MONDO:equivalentTo Mooren ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mooren ulcer -MONDO:0001044 esophageal atresia Orphanet:1199 MONDO:equivalentTo Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia -MONDO:0001586 mucopolysaccharidosis type 1 Orphanet:579 MONDO:equivalentTo Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 1 MONDO:0001633 central retinal artery occlusion Orphanet:648684 MONDO:equivalentTo Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion -MONDO:0001790 spinal cord lipoma Orphanet:645276 MONDO:equivalentTo Spinal cord lipoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord lipoma -MONDO:0001971 farmer's lung disease Orphanet:99906 MONDO:equivalentTo Farmer's lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label farmer's lung disease -MONDO:0002016 benign familial neonatal epilepsy Orphanet:1949 MONDO:equivalentTo Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial neonatal epilepsy -MONDO:0002142 undifferentiated pleomorphic sarcoma Orphanet:2023 MONDO:equivalentTo Undifferentiated pleomorphic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated pleomorphic sarcoma -MONDO:0002303 central retinal vein occlusion Orphanet:411527 MONDO:equivalentTo Central retinal vein occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal vein occlusion -MONDO:0002422 adamantinoma Orphanet:55881 MONDO:equivalentTo Adamantinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adamantinoma -MONDO:0002429 idiopathic interstitial pneumonia Orphanet:98300 MONDO:equivalentTo Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic interstitial pneumonia -MONDO:0002441 Jervell and Lange-Nielsen syndrome Orphanet:90647 MONDO:equivalentTo Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jervell and lange-nielsen syndrome -MONDO:0002457 Treacher-Collins syndrome Orphanet:861 MONDO:equivalentTo Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label treacher-collins syndrome -MONDO:0002474 primary hyperoxaluria Orphanet:416 MONDO:equivalentTo Primary hyperoxaluria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria -MONDO:0002522 tenosynovial giant cell tumor Orphanet:66627 MONDO:equivalentTo Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor -MONDO:0002571 primary central nervous system lymphoma Orphanet:46135 MONDO:equivalentTo Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary central nervous system lymphoma -MONDO:0002588 thymoma type A Orphanet:263310 MONDO:equivalentTo Thymoma type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type a -MONDO:0002687 superior mesenteric artery syndrome Orphanet:622099 MONDO:equivalentTo Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior mesenteric artery syndrome -MONDO:0002728 rhabdoid tumor Orphanet:69077 MONDO:equivalentTo Rhabdoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdoid tumor -MONDO:0003266 ependymal tumor Orphanet:301 MONDO:equivalentTo Ependymal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymal tumor -MONDO:0003308 pleural mesothelioma Orphanet:50251 MONDO:equivalentTo Pleural mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma -MONDO:0003789 hereditary papillary renal cell carcinoma Orphanet:47044 MONDO:equivalentTo Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary papillary renal cell carcinoma -MONDO:0004187 nodular fasciitis Orphanet:477742 MONDO:equivalentTo Nodular fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular fasciitis -MONDO:0004241 Osgood-Schlatter disease Orphanet:97335 MONDO:equivalentTo Osgood-Schlatter disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osgood-schlatter disease -MONDO:0004691 autosomal dominant polycystic kidney disease Orphanet:730 MONDO:equivalentTo Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant polycystic kidney disease -MONDO:0004907 alopecia Orphanet:79364 MONDO:equivalentTo Alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia -MONDO:0004933 hypoplastic left heart syndrome Orphanet:2248 MONDO:equivalentTo Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome -MONDO:0004948 B-cell chronic lymphocytic leukemia Orphanet:67038 MONDO:equivalentTo B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell chronic lymphocytic leukemia -MONDO:0004967 acute lymphoblastic leukemia Orphanet:513 MONDO:equivalentTo Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lymphoblastic leukemia -MONDO:0004976 amyotrophic lateral sclerosis Orphanet:803 MONDO:equivalentTo Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis -MONDO:0004977 angioimmunoblastic T-cell lymphoma Orphanet:86886 MONDO:equivalentTo Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma -MONDO:0005005 clear cell renal carcinoma Orphanet:319276 MONDO:equivalentTo Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell renal carcinoma -MONDO:0005006 clear cell sarcoma of kidney Orphanet:457246 MONDO:equivalentTo Clear cell sarcoma of kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell sarcoma of kidney -MONDO:0005021 dilated cardiomyopathy Orphanet:217604 MONDO:equivalentTo Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy -MONDO:0005029 essential thrombocythemia Orphanet:3318 MONDO:equivalentTo Essential thrombocythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential thrombocythemia -MONDO:0005033 ganglioneuroma Orphanet:251992 MONDO:equivalentTo Ganglioneuroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioneuroma -MONDO:0005035 ganglioneuroblastoma Orphanet:251877 MONDO:equivalentTo Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioneuroblastoma -MONDO:0005040 germ cell tumor Orphanet:3399 MONDO:equivalentTo Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor -MONDO:0005058 leiomyosarcoma Orphanet:64720 MONDO:equivalentTo Leiomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma -MONDO:0005060 liposarcoma Orphanet:69078 MONDO:equivalentTo Liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liposarcoma -MONDO:0005062 lymphoma Orphanet:223735 MONDO:equivalentTo Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoma -MONDO:0005072 neuroblastoma Orphanet:635 MONDO:equivalentTo Neuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroblastoma -MONDO:0005081 preeclampsia Orphanet:275555 MONDO:equivalentTo Preeclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preeclampsia -MONDO:0005086 renal cell carcinoma Orphanet:217071 MONDO:equivalentTo Renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma -MONDO:0005091 severe acute respiratory syndrome Orphanet:140896 MONDO:equivalentTo Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe acute respiratory syndrome -MONDO:0005100 systemic sclerosis Orphanet:90291 MONDO:equivalentTo Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis -MONDO:0005103 well-differentiated liposarcoma Orphanet:99971 MONDO:equivalentTo Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated liposarcoma -MONDO:0005116 Whipple disease Orphanet:3452 MONDO:equivalentTo Whipple disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whipple disease -MONDO:0005124 leprosy Orphanet:548 MONDO:equivalentTo Leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leprosy -MONDO:0005136 malaria Orphanet:673 MONDO:equivalentTo Malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malaria -MONDO:0005164 fibrosarcoma Orphanet:2030 MONDO:equivalentTo Fibrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosarcoma -MONDO:0005181 progressive external ophthalmoplegia Orphanet:520820 MONDO:equivalentTo Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia -MONDO:0005198 vulvar intraepithelial neoplasia Orphanet:137583 MONDO:equivalentTo Vulvar intraepithelial neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar intraepithelial neoplasia -MONDO:0005201 restrictive cardiomyopathy Orphanet:217632 MONDO:equivalentTo Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive cardiomyopathy -MONDO:0005212 rhabdomyosarcoma Orphanet:780 MONDO:equivalentTo Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyosarcoma -MONDO:0005215 vulvar carcinoma Orphanet:494418 MONDO:equivalentTo Vulvar carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar carcinoma -MONDO:0005220 collecting duct carcinoma Orphanet:247203 MONDO:equivalentTo Collecting duct carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label collecting duct carcinoma -MONDO:0005223 acute myeloid leukemia with minimal differentiation Orphanet:98832 MONDO:equivalentTo Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with minimal differentiation -MONDO:0005224 acute myeloblastic leukemia without maturation Orphanet:98833 MONDO:equivalentTo Acute myeloblastic leukemia without maturation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloblastic leukemia without maturation -MONDO:0005308 ciliopathy Orphanet:363250 MONDO:equivalentTo Ciliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ciliopathy -MONDO:0005312 pouchitis Orphanet:217067 MONDO:equivalentTo Pouchitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pouchitis -MONDO:0005313 necrotizing enterocolitis Orphanet:391673 MONDO:equivalentTo Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing enterocolitis -MONDO:0005380 osteonecrosis Orphanet:399158 MONDO:equivalentTo Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis -MONDO:0005388 primary biliary cholangitis Orphanet:186 MONDO:equivalentTo Primary biliary cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis -MONDO:0005440 embryonal carcinoma Orphanet:180226 MONDO:equivalentTo Embryonal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal carcinoma -MONDO:0005498 botulism Orphanet:1267 MONDO:equivalentTo Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism -MONDO:0005504 diphtheria Orphanet:1679 MONDO:equivalentTo Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria -MONDO:0005505 dysembryoplastic neuroepithelial tumor Orphanet:251946 MONDO:equivalentTo Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysembryoplastic neuroepithelial tumor -MONDO:0005512 malignant peritoneal mesothelioma Orphanet:168811 MONDO:equivalentTo Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant peritoneal mesothelioma -MONDO:0005526 tetanus Orphanet:3299 MONDO:equivalentTo Tetanus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus -MONDO:0005543 autoimmune hepatitis type 1 Orphanet:563576 MONDO:equivalentTo Autoimmune hepatitis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis type 1 -MONDO:0005563 nut midline carcinoma Orphanet:443167 MONDO:equivalentTo NUT midline carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nut midline carcinoma -MONDO:0005571 polycythemia Orphanet:98427 MONDO:equivalentTo Polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycythemia -MONDO:0005615 plasmacytoma Orphanet:86855 MONDO:equivalentTo Plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmacytoma -MONDO:0005631 actinomycosis Orphanet:457095 MONDO:equivalentTo Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis -MONDO:0005657 aspergillosis Orphanet:1163 MONDO:equivalentTo Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis -MONDO:0005661 babesiosis Orphanet:108 MONDO:equivalentTo Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis -MONDO:0005662 balantidiasis Orphanet:1223 MONDO:equivalentTo Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis -MONDO:0005680 Brill-Zinsser disease Orphanet:99990 MONDO:equivalentTo Brill-Zinsser disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brill-zinsser disease -MONDO:0005683 brucellosis Orphanet:1304 MONDO:equivalentTo Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis -MONDO:0005692 cat-scratch disease Orphanet:50839 MONDO:equivalentTo Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease -MONDO:0005696 central nervous system tuberculosis Orphanet:641396 MONDO:equivalentTo Central nervous system tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system tuberculosis -MONDO:0005706 coccidioidomycosis Orphanet:228123 MONDO:equivalentTo Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis -MONDO:0005708 Colorado tick fever Orphanet:83595 MONDO:equivalentTo Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever -MONDO:0005710 composite lymphoma Orphanet:168966 MONDO:equivalentTo Composite lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label composite lymphoma -MONDO:0005711 congenital diaphragmatic hernia Orphanet:2140 MONDO:equivalentTo Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia -MONDO:0005714 congenital syphilis Orphanet:499009 MONDO:equivalentTo Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis -MONDO:0005715 congenital toxoplasmosis Orphanet:858 MONDO:equivalentTo Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis -MONDO:0005724 cryptococcosis Orphanet:1546 MONDO:equivalentTo Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis -MONDO:0005725 cyclosporiasis Orphanet:210 MONDO:equivalentTo Cyclosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyclosporiasis -MONDO:0005736 eastern equine encephalitis Orphanet:83594 MONDO:equivalentTo Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis -MONDO:0005737 Ebola hemorrhagic fever Orphanet:319218 MONDO:equivalentTo Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebola hemorrhagic fever -MONDO:0005744 yolk sac tumor Orphanet:876 MONDO:equivalentTo Yolk sac tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yolk sac tumor -MONDO:0005764 follicular dendritic cell sarcoma Orphanet:86902 MONDO:equivalentTo Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular dendritic cell sarcoma -MONDO:0005773 Gerstmann syndrome Orphanet:221117 MONDO:equivalentTo Gerstmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gerstmann syndrome -MONDO:0005802 hymenolepiasis Orphanet:401 MONDO:equivalentTo Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis -MONDO:0005813 interdigitating dendritic cell sarcoma Orphanet:86900 MONDO:equivalentTo Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma -MONDO:0005820 Lassa fever Orphanet:99824 MONDO:equivalentTo Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever -MONDO:0005823 legionellosis Orphanet:600832 MONDO:equivalentTo Legionellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legionellosis -MONDO:0005825 leptospirosis Orphanet:509 MONDO:equivalentTo Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis -MONDO:0005828 listeriosis Orphanet:533 MONDO:equivalentTo Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis -MONDO:0005835 Lynch syndrome Orphanet:144 MONDO:equivalentTo Lynch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lynch syndrome -MONDO:0005838 mansonelliasis Orphanet:2459 MONDO:equivalentTo Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis -MONDO:0005846 microsporidiosis Orphanet:2552 MONDO:equivalentTo Microsporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microsporidiosis -MONDO:0005851 Miller Fisher syndrome Orphanet:98919 MONDO:equivalentTo Miller Fisher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miller fisher syndrome -MONDO:0005854 mixed connective tissue disease Orphanet:809 MONDO:equivalentTo Mixed connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed connective tissue disease -MONDO:0005894 paracoccidioidomycosis Orphanet:73260 MONDO:equivalentTo Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis -MONDO:0005919 placental insufficiency Orphanet:439167 MONDO:equivalentTo Placental insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placental insufficiency -MONDO:0005933 pulmonary blastoma Orphanet:64741 MONDO:equivalentTo Pulmonary blastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary blastoma -MONDO:0005942 Reye syndrome Orphanet:3096 MONDO:equivalentTo Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome -MONDO:0005968 sporotrichosis Orphanet:826 MONDO:equivalentTo Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis -MONDO:0005969 st. Louis encephalitis Orphanet:83484 MONDO:equivalentTo St. Louis encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label st. louis encephalitis -MONDO:0005974 strongyloidiasis Orphanet:76 MONDO:equivalentTo Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis -MONDO:0005979 thoracic outlet syndrome Orphanet:97330 MONDO:equivalentTo Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic outlet syndrome -MONDO:0005988 toxocariasis Orphanet:3343 MONDO:equivalentTo Toxocariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxocariasis -MONDO:0005991 trench fever Orphanet:64694 MONDO:equivalentTo Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever -MONDO:0006015 Waterhouse-Friderichsen syndrome Orphanet:100067 MONDO:equivalentTo Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome -MONDO:0006033 diffuse intrinsic pontine glioma Orphanet:497188 MONDO:equivalentTo Diffuse intrinsic pontine glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse intrinsic pontine glioma -MONDO:0006079 ameloblastic carcinoma Orphanet:314422 MONDO:equivalentTo Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ameloblastic carcinoma -MONDO:0006131 cerebellar liponeurocytoma Orphanet:251931 MONDO:equivalentTo Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar liponeurocytoma -MONDO:0006183 disseminated peritoneal leiomyomatosis Orphanet:71274 MONDO:equivalentTo Disseminated peritoneal leiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated peritoneal leiomyomatosis -MONDO:0006210 fibrolamellar hepatocellular carcinoma Orphanet:401920 MONDO:equivalentTo Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrolamellar hepatocellular carcinoma -MONDO:0006248 hydatidiform mole Orphanet:99927 MONDO:equivalentTo Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole -MONDO:0006372 pituicytoma Orphanet:251623 MONDO:equivalentTo Pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type Orphanet:178544 MONDO:equivalentTo Primary cutaneous diffuse large B-cell lymphoma, leg type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous diffuse large b-cell lymphoma, leg type -MONDO:0006451 thymic carcinoma Orphanet:99868 MONDO:equivalentTo Thymic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic carcinoma -MONDO:0006456 thymoma Orphanet:99867 MONDO:equivalentTo Thymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma -MONDO:0006486 uveal melanoma Orphanet:39044 MONDO:equivalentTo Uveal melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveal melanoma -MONDO:0006536 congenital generalized lipodystrophy Orphanet:528 MONDO:equivalentTo Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy -MONDO:0006558 pemphigoid gestationis Orphanet:63275 MONDO:equivalentTo Pemphigoid gestationis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid gestationis -MONDO:0006583 necrobiosis lipoidica Orphanet:542592 MONDO:equivalentTo Necrobiosis lipoidica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrobiosis lipoidica -MONDO:0006602 porokeratosis Orphanet:79358 MONDO:equivalentTo Porokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis -MONDO:0006614 subcorneal pustular dermatosis Orphanet:48377 MONDO:equivalentTo Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcorneal pustular dermatosis -MONDO:0006618 vibratory urticaria Orphanet:493342 MONDO:equivalentTo Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria -MONDO:0006651 anterior uveitis Orphanet:280886 MONDO:equivalentTo Anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior uveitis -MONDO:0006687 burning mouth syndrome Orphanet:353253 MONDO:equivalentTo Burning mouth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burning mouth syndrome -MONDO:0006806 intermediate uveitis Orphanet:279914 MONDO:equivalentTo Intermediate uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate uveitis -MONDO:0006825 kuru Orphanet:454745 MONDO:equivalentTo Kuru semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kuru -MONDO:0006851 meconium aspiration syndrome Orphanet:70588 MONDO:equivalentTo Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium aspiration syndrome -MONDO:0006861 myeloid sarcoma Orphanet:86850 MONDO:equivalentTo Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma -MONDO:0006908 pituitary apoplexy Orphanet:95613 MONDO:equivalentTo Pituitary apoplexy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary apoplexy -MONDO:0006913 pneumococcal meningitis Orphanet:55655 MONDO:equivalentTo Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis -MONDO:0006918 posterior uveitis Orphanet:280892 MONDO:equivalentTo Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis -MONDO:0006941 rat-bite fever Orphanet:31205 MONDO:equivalentTo Rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rat-bite fever -MONDO:0006952 retinopathy of prematurity Orphanet:90050 MONDO:equivalentTo Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity -MONDO:0006976 somatostatinoma Orphanet:97283 MONDO:equivalentTo Somatostatinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatostatinoma -MONDO:0007012 variant Creutzfeldt-Jakob disease Orphanet:576370 MONDO:equivalentTo Variant Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant creutzfeldt-jakob disease -MONDO:0007031 familial abdominal aortic aneurysm Orphanet:86 MONDO:equivalentTo Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial abdominal aortic aneurysm -MONDO:0007032 prune belly syndrome Orphanet:2970 MONDO:equivalentTo Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome -MONDO:0007034 Adams-Oliver syndrome Orphanet:974 MONDO:equivalentTo Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adams-oliver syndrome -MONDO:0007037 Achondroplasia Orphanet:15 MONDO:equivalentTo Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia -MONDO:0007041 Apert syndrome Orphanet:87 MONDO:equivalentTo Apert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apert syndrome -MONDO:0007042 Saethre-Chotzen syndrome Orphanet:794 MONDO:equivalentTo Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label saethre-chotzen syndrome -MONDO:0007043 Pfeiffer syndrome Orphanet:710 MONDO:equivalentTo Pfeiffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome -MONDO:0007045 acrofacial dysostosis, Catania type Orphanet:1786 MONDO:equivalentTo Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, catania type -MONDO:0007055 Acromicric dysplasia Orphanet:969 MONDO:equivalentTo Acromicric dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromicric dysplasia -MONDO:0007058 Acropectorovertebral dysplasia Orphanet:957 MONDO:equivalentTo Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acropectorovertebral dysplasia -MONDO:0007059 acrorenal syndrome Orphanet:971 MONDO:equivalentTo Acrorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrorenal syndrome -MONDO:0007068 adenylosuccinate lyase deficiency Orphanet:46 MONDO:equivalentTo Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenylosuccinate lyase deficiency -MONDO:0007070 adiposis dolorosa Orphanet:36397 MONDO:equivalentTo Adiposis dolorosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adiposis dolorosa -MONDO:0007072 ADULT syndrome Orphanet:978 MONDO:equivalentTo ADULT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult syndrome -MONDO:0007073 Hypoglossia-hypodactyly syndrome Orphanet:989 MONDO:equivalentTo Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoglossia-hypodactyly syndrome -MONDO:0007077 Tietz syndrome Orphanet:42665 MONDO:equivalentTo Tietz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tietz syndrome -MONDO:0007078 pseudohypoparathyroidism type 1A Orphanet:79443 MONDO:equivalentTo Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1a -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia Orphanet:1010 MONDO:equivalentTo Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant palmoplantar keratoderma and congenital alopecia -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome Orphanet:1008 MONDO:equivalentTo Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia-epilepsy-pyorrhea-intellectual disability syndrome -MONDO:0007086 autosomal dominant Alport syndrome Orphanet:88918 MONDO:equivalentTo Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant alport syndrome -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Orphanet:100034 MONDO:equivalentTo Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism -MONDO:0007098 ACys amyloidosis Orphanet:100008 MONDO:equivalentTo ACys amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acys amyloidosis -MONDO:0007101 familial primary localized cutaneous amyloidosis Orphanet:353220 MONDO:equivalentTo Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial primary localized cutaneous amyloidosis -MONDO:0007112 interventricular septum aneurysm Orphanet:99092 MONDO:equivalentTo Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interventricular septum aneurysm -MONDO:0007113 Angelman syndrome Orphanet:72 MONDO:equivalentTo Angelman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome -MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia Orphanet:63442 MONDO:equivalentTo Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angel-shaped phalango-epiphyseal dysplasia -MONDO:0007119 isolated aniridia Orphanet:250923 MONDO:equivalentTo Isolated aniridia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated aniridia -MONDO:0007120 aniridia-absent patella syndrome Orphanet:1069 MONDO:equivalentTo Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-absent patella syndrome -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome Orphanet:1072 MONDO:equivalentTo Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloblepharon filiforme adnatum-cleft palate syndrome -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Orphanet:1071 MONDO:equivalentTo Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -MONDO:0007130 congenital total pulmonary venous return anomaly Orphanet:99125 MONDO:equivalentTo Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital total pulmonary venous return anomaly -MONDO:0007131 anonychia with flexural pigmentation Orphanet:69125 MONDO:equivalentTo Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia with flexural pigmentation -MONDO:0007134 Cooks syndrome Orphanet:1487 MONDO:equivalentTo Cooks syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cooks syndrome -MONDO:0007137 isolated congenital anosmia Orphanet:88620 MONDO:equivalentTo Isolated congenital anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital anosmia -MONDO:0007142 Townes-Brocks syndrome Orphanet:857 MONDO:equivalentTo Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label townes-brocks syndrome -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Orphanet:1110 MONDO:equivalentTo Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch anomaly-facial dysmorphism-intellectual disability syndrome -MONDO:0007145 aplasia cutis congenita Orphanet:1114 MONDO:equivalentTo Aplasia cutis congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis congenita -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome Orphanet:1144 MONDO:equivalentTo Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-like hand anomaly-sensorineural deafness syndrome -MONDO:0007160 Stickler syndrome type 1 Orphanet:90653 MONDO:equivalentTo Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007167 atelosteogenesis type I Orphanet:1190 MONDO:equivalentTo Atelosteogenesis type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type i -MONDO:0007168 atelosteogenesis type III Orphanet:56305 MONDO:equivalentTo Atelosteogenesis type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type iii -MONDO:0007174 Lown-Ganong-Levine syndrome Orphanet:844 MONDO:equivalentTo Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lown-ganong-levine syndrome -MONDO:0007176 helicoid peripapillary chorioretinal degeneration Orphanet:86813 MONDO:equivalentTo Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label helicoid peripapillary chorioretinal degeneration -MONDO:0007177 auriculoosteodysplasia Orphanet:114 MONDO:equivalentTo Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auriculoosteodysplasia -MONDO:0007185 Banki syndrome Orphanet:1228 MONDO:equivalentTo Banki syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label banki syndrome -MONDO:0007188 primary basilar invagination Orphanet:2285 MONDO:equivalentTo Primary basilar invagination semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary basilar invagination -MONDO:0007194 familial bicuspid aortic valve Orphanet:402075 MONDO:equivalentTo Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial bicuspid aortic valve -MONDO:0007198 Ascher syndrome Orphanet:1253 MONDO:equivalentTo Ascher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascher syndrome -MONDO:0007200 blepharonasofacial malformation syndrome Orphanet:1252 MONDO:equivalentTo Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharonasofacial malformation syndrome -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome Orphanet:1259 MONDO:equivalentTo Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoptosis-myopia-ectopia lentis syndrome -MONDO:0007203 blue rubber bleb nevus Orphanet:1059 MONDO:equivalentTo Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blue rubber bleb nevus -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome Orphanet:85182 MONDO:equivalentTo Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphyseal medullary stenosis-bone malignancy syndrome -MONDO:0007207 Böök syndrome Orphanet:1262 MONDO:equivalentTo Böök syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label böök syndrome -MONDO:0007208 Boomerang dysplasia Orphanet:1263 MONDO:equivalentTo Boomerang dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label boomerang dysplasia -MONDO:0007209 Weismann-Netter syndrome Orphanet:3344 MONDO:equivalentTo Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weismann-netter syndrome -MONDO:0007211 brachydactyly-arterial hypertension syndrome Orphanet:1276 MONDO:equivalentTo Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-arterial hypertension syndrome -MONDO:0007212 brachydactyly-long thumb syndrome Orphanet:2946 MONDO:equivalentTo Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-long thumb syndrome -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome Orphanet:1278 MONDO:equivalentTo Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-preaxial hallux varus syndrome -MONDO:0007215 brachydactyly type A1 Orphanet:93388 MONDO:equivalentTo Brachydactyly type A1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a1 -MONDO:0007216 brachydactyly type A2 Orphanet:93396 MONDO:equivalentTo Brachydactyly type A2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a2 -MONDO:0007218 brachydactyly type A4 Orphanet:93394 MONDO:equivalentTo Brachydactyly type A4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a4 -MONDO:0007220 brachydactyly type B1 Orphanet:572385 MONDO:equivalentTo Brachydactyly type B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b1 -MONDO:0007221 brachydactyly type C Orphanet:93384 MONDO:equivalentTo Brachydactyly type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type c -MONDO:0007225 fibular aplasia-ectrodactyly syndrome Orphanet:1118 MONDO:equivalentTo Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular aplasia-ectrodactyly syndrome -MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome Orphanet:1246 MONDO:equivalentTo Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-nystagmus-cerebellar ataxia syndrome -MONDO:0007227 Sillence syndrome Orphanet:3168 MONDO:equivalentTo Sillence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sillence syndrome -MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome Orphanet:1292 MONDO:equivalentTo Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachymorphism-onychodysplasia-dysphalangism syndrome -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome Orphanet:1295 MONDO:equivalentTo Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachytelephalangy-dysmorphism-kallmann syndrome -MONDO:0007232 autosomal dominant brachyolmia Orphanet:93304 MONDO:equivalentTo Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant brachyolmia -MONDO:0007233 second branchial cleft anomaly Orphanet:141022 MONDO:equivalentTo Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label second branchial cleft anomaly -MONDO:0007237 familial juvenile hypertrophy of the breast Orphanet:180176 MONDO:equivalentTo Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial juvenile hypertrophy of the breast -MONDO:0007243 Burkitt lymphoma Orphanet:543 MONDO:equivalentTo Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma -MONDO:0007244 Caffey disease Orphanet:1310 MONDO:equivalentTo Caffey disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caffey disease -MONDO:0007248 hereditary painful callosities Orphanet:79141 MONDO:equivalentTo Hereditary painful callosities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary painful callosities -MONDO:0007249 camptobrachydactyly Orphanet:1319 MONDO:equivalentTo Camptobrachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptobrachydactyly -MONDO:0007250 camptodactyly of fingers Orphanet:295016 MONDO:equivalentTo Camptodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly of fingers -MONDO:0007251 campomelic dysplasia Orphanet:140 MONDO:equivalentTo Campomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label campomelic dysplasia -MONDO:0007252 Gordon syndrome Orphanet:376 MONDO:equivalentTo Gordon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gordon syndrome -MONDO:0007256 hepatocellular carcinoma Orphanet:88673 MONDO:equivalentTo Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatocellular carcinoma -MONDO:0007259 craniofaciofrontodigital syndrome Orphanet:363705 MONDO:equivalentTo Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofaciofrontodigital syndrome -MONDO:0007271 familial cutaneous collagenoma Orphanet:53296 MONDO:equivalentTo Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cutaneous collagenoma -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency Orphanet:199285 MONDO:equivalentTo Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypercarotenemia and vitamin a deficiency -MONDO:0007276 cat-eye syndrome Orphanet:195 MONDO:equivalentTo Cat-eye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-eye syndrome -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome Orphanet:1373 MONDO:equivalentTo Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-aberrant oral frenula-growth delay syndrome -MONDO:0007296 spinocerebellar ataxia type 31 Orphanet:217012 MONDO:equivalentTo Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 31 -MONDO:0007297 ADan amyloidosis Orphanet:97346 MONDO:equivalentTo ADan amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adan amyloidosis -MONDO:0007298 spinocerebellar ataxia type 29 Orphanet:208513 MONDO:equivalentTo Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 29 -MONDO:0007301 cerebrocostomandibular syndrome Orphanet:1393 MONDO:equivalentTo Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrocostomandibular syndrome -MONDO:0007307 Charcot-Marie-Tooth disease type 1B Orphanet:101082 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1b -MONDO:0007309 Charcot-Marie-Tooth disease type 1A Orphanet:101081 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1a -MONDO:0007311 Charcot-Marie-Tooth disease type 1E Orphanet:90658 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1e -MONDO:0007313 cheilitis glandularis Orphanet:1221 MONDO:equivalentTo Cheilitis glandularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cheilitis glandularis -MONDO:0007315 cherubism Orphanet:184 MONDO:equivalentTo Cherubism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cherubism -MONDO:0007318 Alagille syndrome Orphanet:52 MONDO:equivalentTo Alagille syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type Orphanet:79346 MONDO:equivalentTo Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata, tibial-metacarpal type -MONDO:0007334 autosomal dominant popliteal pterygium syndrome Orphanet:1300 MONDO:equivalentTo Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome -MONDO:0007337 cleft palate-lateral synechia syndrome Orphanet:2016 MONDO:equivalentTo Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-lateral synechia syndrome -MONDO:0007341 cleidorhizomelic syndrome Orphanet:1453 MONDO:equivalentTo Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleidorhizomelic syndrome -MONDO:0007343 isolated congenital digital clubbing Orphanet:217059 MONDO:equivalentTo Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital digital clubbing -MONDO:0007345 aorta coarctation Orphanet:1457 MONDO:equivalentTo Aorta coarctation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorta coarctation -MONDO:0007346 cochleosaccular degeneration-cataract syndrome Orphanet:3233 MONDO:equivalentTo Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cochleosaccular degeneration-cataract syndrome -MONDO:0007351 coloboma of macula Orphanet:98945 MONDO:equivalentTo Coloboma of macula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of macula -MONDO:0007352 renal coloboma syndrome Orphanet:1475 MONDO:equivalentTo Renal coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal coloboma syndrome -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome Orphanet:1471 MONDO:equivalentTo Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of macula-brachydactyly type b syndrome -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability Orphanet:1473 MONDO:equivalentTo Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveal coloboma-cleft lip and palate-intellectual disability -MONDO:0007363 congenital contractural arachnodactyly Orphanet:115 MONDO:equivalentTo Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital contractural arachnodactyly -MONDO:0007368 familial benign copper deficiency Orphanet:1551 MONDO:equivalentTo Familial benign copper deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial benign copper deficiency -MONDO:0007369 hereditary coproporphyria Orphanet:79273 MONDO:equivalentTo Hereditary coproporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary coproporphyria -MONDO:0007374 Schnyder corneal dystrophy Orphanet:98967 MONDO:equivalentTo Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schnyder corneal dystrophy -MONDO:0007375 epithelial basement membrane dystrophy Orphanet:98956 MONDO:equivalentTo Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial basement membrane dystrophy -MONDO:0007376 fleck corneal dystrophy Orphanet:98970 MONDO:equivalentTo Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fleck corneal dystrophy -MONDO:0007377 granular corneal dystrophy type I Orphanet:98962 MONDO:equivalentTo Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granular corneal dystrophy type i -MONDO:0007379 Meesmann corneal dystrophy Orphanet:98954 MONDO:equivalentTo Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meesmann corneal dystrophy -MONDO:0007380 lattice corneal dystrophy type I Orphanet:98964 MONDO:equivalentTo Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lattice corneal dystrophy type i -MONDO:0007381 epithelial recurrent erosion dystrophy Orphanet:293381 MONDO:equivalentTo Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial recurrent erosion dystrophy -MONDO:0007382 Ramos-Arroyo syndrome Orphanet:1051 MONDO:equivalentTo Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ramos-arroyo syndrome -MONDO:0007384 congenital trigeminal anesthesia Orphanet:231013 MONDO:equivalentTo Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital trigeminal anesthesia -MONDO:0007385 idiopathic spontaneous coronary artery dissection Orphanet:458718 MONDO:equivalentTo Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic spontaneous coronary artery dissection -MONDO:0007388 congenitally short costocoracoid ligament Orphanet:2391 MONDO:equivalentTo Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally short costocoracoid ligament -MONDO:0007392 coxoauricular syndrome Orphanet:1508 MONDO:equivalentTo Coxoauricular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coxoauricular syndrome -MONDO:0007395 craniofacial-deafness-hand syndrome Orphanet:1529 MONDO:equivalentTo Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofacial-deafness-hand syndrome -MONDO:0007396 dysostosis, Stanescu type Orphanet:1798 MONDO:equivalentTo Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis, stanescu type -MONDO:0007398 craniorhiny Orphanet:157832 MONDO:equivalentTo Craniorhiny semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorhiny -MONDO:0007400 Jackson-Weiss syndrome Orphanet:1540 MONDO:equivalentTo Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jackson-weiss syndrome -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Orphanet:1538 MONDO:equivalentTo Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-dandy-walker malformation-hydrocephalus syndrome -MONDO:0007403 inherited Creutzfeldt-Jakob disease Orphanet:282166 MONDO:equivalentTo Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited creutzfeldt-jakob disease -MONDO:0007405 Crouzon syndrome Orphanet:207 MONDO:equivalentTo Crouzon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crouzon syndrome -MONDO:0007407 Cryoglobulinemic vasculitis Orphanet:91138 MONDO:equivalentTo Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryoglobulinemic vasculitis -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome Orphanet:1547 MONDO:equivalentTo Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptomicrotia-brachydactyly-excess fingertip arch syndrome -MONDO:0007410 isolated cryptophthalmia Orphanet:91396 MONDO:equivalentTo Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cryptophthalmia -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome Orphanet:2674 MONDO:equivalentTo Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyprus facial-neuromusculoskeletal syndrome -MONDO:0007414 Gorham-Stout disease Orphanet:73 MONDO:equivalentTo Gorham-Stout disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gorham-stout disease -MONDO:0007417 Darier disease Orphanet:218 MONDO:equivalentTo Darier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label darier disease -MONDO:0007421 deafness-ear malformation-facial palsy syndrome Orphanet:3232 MONDO:equivalentTo Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-ear malformation-facial palsy syndrome -MONDO:0007422 keratoderma hereditarium mutilans Orphanet:494 MONDO:equivalentTo Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoderma hereditarium mutilans -MONDO:0007428 deafness-craniofacial syndrome Orphanet:3241 MONDO:equivalentTo Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-craniofacial syndrome -MONDO:0007434 primary failure of tooth eruption Orphanet:412206 MONDO:equivalentTo Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary failure of tooth eruption -MONDO:0007436 dentin dysplasia type I Orphanet:99789 MONDO:equivalentTo Dentin dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia type i -MONDO:0007437 dentin dysplasia type II Orphanet:99791 MONDO:equivalentTo Dentin dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia type ii -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome Orphanet:99792 MONDO:equivalentTo Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia-sclerotic bones syndrome -MONDO:0007441 dentinogenesis imperfecta type 2 Orphanet:166260 MONDO:equivalentTo Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta type 2 -MONDO:0007442 dentinogenesis imperfecta type 3 Orphanet:166265 MONDO:equivalentTo Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta type 3 -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris Orphanet:1166 MONDO:equivalentTo Congenital unilateral hypoplasia of depressor anguli oris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital unilateral hypoplasia of depressor anguli oris -MONDO:0007445 dermatopathia pigmentosa reticularis Orphanet:86920 MONDO:equivalentTo Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatopathia pigmentosa reticularis -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome Orphanet:2868 MONDO:equivalentTo Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-valvular heart disease-characteristic facies syndrome -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome Orphanet:85192 MONDO:equivalentTo Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calvarial doughnut lesions-bone fragility syndrome -MONDO:0007473 Duane retraction syndrome Orphanet:233 MONDO:equivalentTo Duane retraction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane retraction syndrome -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome Orphanet:93325 MONDO:equivalentTo Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant kenny-caffey syndrome -MONDO:0007482 dyschondrosteosis-nephritis syndrome Orphanet:1765 MONDO:equivalentTo Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschondrosteosis-nephritis syndrome -MONDO:0007483 dyschromatosis symmetrica hereditaria Orphanet:41 MONDO:equivalentTo Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyschromatosis symmetrica hereditaria -MONDO:0007486 hereditary benign intraepithelial dyskeratosis Orphanet:352657 MONDO:equivalentTo Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary benign intraepithelial dyskeratosis -MONDO:0007489 dysplasia epiphysealis hemimelica Orphanet:1822 MONDO:equivalentTo Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplasia epiphysealis hemimelica -MONDO:0007490 carpotarsal osteochondromatosis Orphanet:2767 MONDO:equivalentTo Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpotarsal osteochondromatosis -MONDO:0007492 early-onset generalized limb-onset dystonia Orphanet:256 MONDO:equivalentTo Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset generalized limb-onset dystonia -MONDO:0007504 thickened earlobes-conductive deafness syndrome Orphanet:2405 MONDO:equivalentTo Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thickened earlobes-conductive deafness syndrome -MONDO:0007507 absence of fingerprints-congenital milia syndrome Orphanet:1658 MONDO:equivalentTo Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of fingerprints-congenital milia syndrome -MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type Orphanet:1818 MONDO:equivalentTo Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia, trichoodontoonychial type -MONDO:0007519 Edinburgh malformation syndrome Orphanet:1895 MONDO:equivalentTo Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label edinburgh malformation syndrome -MONDO:0007529 elastosis perforans serpiginosa Orphanet:79148 MONDO:equivalentTo Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa -MONDO:0007534 Beckwith-Wiedemann syndrome Orphanet:116 MONDO:equivalentTo Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome -MONDO:0007536 congenital lobar emphysema Orphanet:1928 MONDO:equivalentTo Congenital lobar emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lobar emphysema -MONDO:0007537 lateral meningocele syndrome Orphanet:2789 MONDO:equivalentTo Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lateral meningocele syndrome -MONDO:0007540 multiple endocrine neoplasia type 1 Orphanet:652 MONDO:equivalentTo Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 1 -MONDO:0007542 Camurati-Engelmann disease Orphanet:1328 MONDO:equivalentTo Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camurati-engelmann disease -MONDO:0007558 benign occipital epilepsy Orphanet:25968 MONDO:equivalentTo Benign occipital epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign occipital epilepsy -MONDO:0007560 reading seizures Orphanet:166433 MONDO:equivalentTo Reading seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reading seizures -MONDO:0007561 multiple epiphyseal dysplasia type 1 Orphanet:93308 MONDO:equivalentTo Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 1 -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type Orphanet:166011 MONDO:equivalentTo Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, beighton type -MONDO:0007564 pilomatrixoma Orphanet:91414 MONDO:equivalentTo Pilomatrixoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilomatrixoma -MONDO:0007565 familial cylindromatosis Orphanet:211 MONDO:equivalentTo Familial cylindromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cylindromatosis -MONDO:0007566 multiple self-healing squamous epithelioma Orphanet:65748 MONDO:equivalentTo Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple self-healing squamous epithelioma -MONDO:0007570 erythema palmare hereditarium Orphanet:231031 MONDO:equivalentTo Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema palmare hereditarium -MONDO:0007574 spinocerebellar ataxia type 34 Orphanet:1955 MONDO:equivalentTo Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 34 -MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome Orphanet:1962 MONDO:equivalentTo Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exostoses-anetodermia-brachydactyly type e syndrome -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome Orphanet:3023 MONDO:equivalentTo External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external auditory canal atresia-vertical talus-hypertelorism syndrome -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Orphanet:1964 MONDO:equivalentTo Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrasystoles-short stature-hyperpigmentation-microcephaly syndrome -MONDO:0007592 familial recurrent peripheral facial palsy Orphanet:2809 MONDO:equivalentTo Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial recurrent peripheral facial palsy -MONDO:0007603 Felty syndrome Orphanet:47612 MONDO:equivalentTo Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome -MONDO:0007604 femoral-facial syndrome Orphanet:1988 MONDO:equivalentTo Femoral-facial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femoral-facial syndrome -MONDO:0007606 fibrodysplasia ossificans progressiva Orphanet:337 MONDO:equivalentTo Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrodysplasia ossificans progressiva -MONDO:0007608 desmoid tumor Orphanet:873 MONDO:equivalentTo Desmoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoid tumor -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome Orphanet:2026 MONDO:equivalentTo Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-hypertrichosis syndrome -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome Orphanet:2027 MONDO:equivalentTo Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-progressive deafness syndrome -MONDO:0007614 congenital fibrosis of extraocular muscles Orphanet:45358 MONDO:equivalentTo Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fibrosis of extraocular muscles -MONDO:0007615 laurin-Sandrow syndrome Orphanet:2378 MONDO:equivalentTo Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laurin-sandrow syndrome -MONDO:0007618 Eng-Strom syndrome Orphanet:1937 MONDO:equivalentTo Eng-Strom syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eng-strom syndrome -MONDO:0007619 isolated congenital adermatoglyphia Orphanet:289465 MONDO:equivalentTo Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital adermatoglyphia -MONDO:0007621 Floating-Harbor syndrome Orphanet:2044 MONDO:equivalentTo Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label floating-harbor syndrome -MONDO:0007624 Flynn-Aird syndrome Orphanet:2047 MONDO:equivalentTo Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flynn-aird syndrome -MONDO:0007626 familial congenital palsy of trochlear nerve Orphanet:91498 MONDO:equivalentTo Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital palsy of trochlear nerve -MONDO:0007627 focal facial dermal dysplasia type I Orphanet:79133 MONDO:equivalentTo Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type i -MONDO:0007630 North Carolina macular dystrophy Orphanet:75327 MONDO:equivalentTo North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label north carolina macular dystrophy -MONDO:0007635 Frasier syndrome Orphanet:347 MONDO:equivalentTo Frasier syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frasier syndrome -MONDO:0007636 frontorhiny Orphanet:391474 MONDO:equivalentTo Frontorhiny semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontorhiny -MONDO:0007639 fundus albipunctatus Orphanet:227796 MONDO:equivalentTo Fundus albipunctatus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fundus albipunctatus -MONDO:0007642 isolated agenesis of gallbladder Orphanet:440987 MONDO:equivalentTo Isolated agenesis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated agenesis of gallbladder -MONDO:0007650 MALT lymphoma Orphanet:52417 MONDO:equivalentTo MALT lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malt lymphoma -MONDO:0007651 gastrocutaneous syndrome Orphanet:2069 MONDO:equivalentTo Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrocutaneous syndrome -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome Orphanet:356 MONDO:equivalentTo Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gerstmann-straussler-scheinker syndrome -MONDO:0007660 familial ossifying fibroma Orphanet:435329 MONDO:equivalentTo Familial ossifying fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial ossifying fibroma -MONDO:0007666 glaucoma-sleep apnea syndrome Orphanet:2085 MONDO:equivalentTo Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma-sleep apnea syndrome -MONDO:0007667 subependymoma Orphanet:251639 MONDO:equivalentTo Subependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymoma -MONDO:0007671 fibronectin glomerulopathy Orphanet:84090 MONDO:equivalentTo Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibronectin glomerulopathy -MONDO:0007672 glomuvenous malformation Orphanet:83454 MONDO:equivalentTo Glomuvenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glomuvenous malformation -MONDO:0007679 GMS syndrome Orphanet:2090 MONDO:equivalentTo GMS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gms syndrome -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome Orphanet:2091 MONDO:equivalentTo Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multinodular goiter-cystic kidney-polydactyly syndrome -MONDO:0007683 Grant syndrome Orphanet:2097 MONDO:equivalentTo Grant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grant syndrome -MONDO:0007686 gray platelet syndrome Orphanet:721 MONDO:equivalentTo Gray platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gray platelet syndrome -MONDO:0007688 Myhre syndrome Orphanet:2588 MONDO:equivalentTo Myhre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myhre syndrome -MONDO:0007690 aromatase excess syndrome Orphanet:178345 MONDO:equivalentTo Aromatase excess syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatase excess syndrome -MONDO:0007696 Emery-Nelson syndrome Orphanet:1927 MONDO:equivalentTo Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emery-nelson syndrome -MONDO:0007698 hand-foot-genital syndrome Orphanet:2438 MONDO:equivalentTo Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hand-foot-genital syndrome -MONDO:0007700 hawkinsinuria Orphanet:2118 MONDO:equivalentTo Hawkinsinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hawkinsinuria -MONDO:0007702 heart-hand syndrome type 3 Orphanet:1342 MONDO:equivalentTo Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome type 3 -MONDO:0007708 Kasabach-Merritt syndrome Orphanet:2330 MONDO:equivalentTo Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kasabach-merritt syndrome -MONDO:0007711 Bencze syndrome Orphanet:1241 MONDO:equivalentTo Bencze syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bencze syndrome -MONDO:0007712 oculoauriculovertebral spectrum with radial defects Orphanet:2549 MONDO:equivalentTo Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoauriculovertebral spectrum with radial defects -MONDO:0007725 hereditary progressive mucinous histiocytosis Orphanet:158025 MONDO:equivalentTo Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary progressive mucinous histiocytosis -MONDO:0007726 hip dysplasia, Beukes type Orphanet:2114 MONDO:equivalentTo Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hip dysplasia, beukes type -MONDO:0007732 Holt-Oram syndrome Orphanet:392 MONDO:equivalentTo Holt-Oram syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holt-oram syndrome -MONDO:0007735 congenital Horner syndrome Orphanet:91413 MONDO:equivalentTo Congenital Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital horner syndrome -MONDO:0007739 Huntington disease Orphanet:399 MONDO:equivalentTo Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease -MONDO:0007740 Wagner disease Orphanet:898 MONDO:equivalentTo Wagner disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wagner disease -MONDO:0007744 cholesterol-ester transfer protein deficiency Orphanet:79506 MONDO:equivalentTo Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0007747 isolated hyperchlorhidrosis Orphanet:542657 MONDO:equivalentTo Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hyperchlorhidrosis -MONDO:0007756 hyperkeratosis lenticularis perstans Orphanet:409 MONDO:equivalentTo Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkeratosis lenticularis perstans -MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome Orphanet:1336 MONDO:equivalentTo Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkeratosis-hyperpigmentation syndrome -MONDO:0007758 epidermolytic palmoplantar keratoderma Orphanet:2199 MONDO:equivalentTo Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolytic palmoplantar keratoderma -MONDO:0007765 hyperostosis cranialis interna Orphanet:443098 MONDO:equivalentTo Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperostosis cranialis interna -MONDO:0007766 Morgagni-Stewart-Morel syndrome Orphanet:77296 MONDO:equivalentTo Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morgagni-stewart-morel syndrome -MONDO:0007772 pseudohypoaldosteronism type 2A Orphanet:88938 MONDO:equivalentTo Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2a -MONDO:0007793 hypochondroplasia Orphanet:429 MONDO:equivalentTo Hypochondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondroplasia -MONDO:0007803 multiple system atrophy Orphanet:102 MONDO:equivalentTo Multiple system atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy -MONDO:0007804 Pallister-Hall syndrome Orphanet:672 MONDO:equivalentTo Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pallister-hall syndrome -MONDO:0007808 ichthyosis hystrix of Curth-Macklin Orphanet:79503 MONDO:equivalentTo Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis hystrix of curth-macklin -MONDO:0007813 superficial epidermolytic ichthyosis Orphanet:455 MONDO:equivalentTo Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial epidermolytic ichthyosis -MONDO:0007820 fused mandibular incisors Orphanet:2287 MONDO:equivalentTo Fused mandibular incisors semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fused mandibular incisors -MONDO:0007827 inclusion body myositis Orphanet:611 MONDO:equivalentTo Inclusion body myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inclusion body myositis -MONDO:0007836 IVIC syndrome Orphanet:2307 MONDO:equivalentTo IVIC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ivic syndrome -MONDO:0007837 Johnson neuroectodermal syndrome Orphanet:2316 MONDO:equivalentTo Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label johnson neuroectodermal syndrome -MONDO:0007838 Jacobsen syndrome Orphanet:2308 MONDO:equivalentTo Jacobsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jacobsen syndrome -MONDO:0007839 Aase-Smith syndrome Orphanet:916 MONDO:equivalentTo Aase-Smith syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aase-smith syndrome -MONDO:0007841 coxopodopatellar syndrome Orphanet:1509 MONDO:equivalentTo Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coxopodopatellar syndrome -MONDO:0007846 KBG syndrome Orphanet:2332 MONDO:equivalentTo KBG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kbg syndrome -MONDO:0007848 autosomal dominant keratitis Orphanet:2334 MONDO:equivalentTo Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant keratitis -MONDO:0007852 palmoplantar keratoderma-deafness syndrome Orphanet:2202 MONDO:equivalentTo Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-deafness syndrome -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome Orphanet:538574 MONDO:equivalentTo Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome -MONDO:0007854 keratolytic winter erythema Orphanet:50943 MONDO:equivalentTo Keratolytic winter erythema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratolytic winter erythema -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome Orphanet:2198 MONDO:equivalentTo Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-esophageal carcinoma syndrome -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome Orphanet:86919 MONDO:equivalentTo Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis palmaris et plantaris-clinodactyly syndrome -MONDO:0007860 focal palmoplantar and gingival keratoderma Orphanet:2200 MONDO:equivalentTo Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar and gingival keratoderma -MONDO:0007862 Waardenburg syndrome type 3 Orphanet:896 MONDO:equivalentTo Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 3 -MONDO:0007863 Kleine-Levin syndrome Orphanet:33543 MONDO:equivalentTo Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleine-levin syndrome -MONDO:0007864 angioosteohypertrophic syndrome Orphanet:2346 MONDO:equivalentTo Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioosteohypertrophic syndrome -MONDO:0007871 familial congenital nasolacrimal duct obstruction Orphanet:451612 MONDO:equivalentTo Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital nasolacrimal duct obstruction -MONDO:0007875 Larsen syndrome Orphanet:503 MONDO:equivalentTo Larsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen syndrome -MONDO:0007876 laryngeal abductor paralysis Orphanet:2808 MONDO:equivalentTo Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis -MONDO:0007878 congenital laryngomalacia Orphanet:2373 MONDO:equivalentTo Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia -MONDO:0007879 larynx atresia Orphanet:1202 MONDO:equivalentTo Larynx atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larynx atresia -MONDO:0007880 congenital laryngeal web Orphanet:2374 MONDO:equivalentTo Congenital laryngeal web semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal web -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer Orphanet:523 MONDO:equivalentTo Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary leiomyomatosis and renal cell cancer -MONDO:0007891 familial generalized lentiginosis Orphanet:231040 MONDO:equivalentTo Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial generalized lentiginosis -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism Orphanet:2658 MONDO:equivalentTo Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lenz-majewski hyperostotic dwarfism -MONDO:0007893 Noonan syndrome with multiple lentigines Orphanet:500 MONDO:equivalentTo Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome with multiple lentigines -MONDO:0007894 Leri pleonosteosis Orphanet:2900 MONDO:equivalentTo Leri pleonosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leri pleonosteosis -MONDO:0007895 platyspondylic dysplasia, Torrance type Orphanet:85166 MONDO:equivalentTo Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label platyspondylic dysplasia, torrance type -MONDO:0007904 median nodule of the upper lip Orphanet:2699 MONDO:equivalentTo Median nodule of the upper lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median nodule of the upper lip -MONDO:0007906 familial partial lipodystrophy, Dunnigan type Orphanet:2348 MONDO:equivalentTo Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial lipodystrophy, dunnigan type -MONDO:0007908 multiple symmetric lipomatosis Orphanet:2398 MONDO:equivalentTo Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple symmetric lipomatosis -MONDO:0007909 familial multiple lipomatosis Orphanet:199276 MONDO:equivalentTo Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple lipomatosis -MONDO:0007915 systemic lupus erythematosus Orphanet:536 MONDO:equivalentTo Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus -MONDO:0007916 primary intestinal lymphangiectasia Orphanet:90362 MONDO:equivalentTo Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intestinal lymphangiectasia -MONDO:0007921 yellow nail syndrome Orphanet:662 MONDO:equivalentTo Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome -MONDO:0007922 lymphedema-distichiasis syndrome Orphanet:33001 MONDO:equivalentTo Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-distichiasis syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome Orphanet:109 MONDO:equivalentTo Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bannayan-riley-ruvalcaba syndrome -MONDO:0007927 congenital macroglossia Orphanet:2430 MONDO:equivalentTo Congenital macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital macroglossia -MONDO:0007934 benign concentric annular macular dystrophy Orphanet:251287 MONDO:equivalentTo Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign concentric annular macular dystrophy -MONDO:0007947 Marfan syndrome Orphanet:558 MONDO:equivalentTo Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome -MONDO:0007949 Marshall syndrome Orphanet:560 MONDO:equivalentTo Marshall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marshall syndrome -MONDO:0007950 mastocytosis Orphanet:98292 MONDO:equivalentTo Mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mastocytosis -MONDO:0007956 Pai syndrome Orphanet:1993 MONDO:equivalentTo Pai syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pai syndrome -MONDO:0007958 familial medullary thyroid carcinoma Orphanet:99361 MONDO:equivalentTo Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial medullary thyroid carcinoma -MONDO:0007959 medulloblastoma Orphanet:616 MONDO:equivalentTo Medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medulloblastoma -MONDO:0007967 melanoma and neural system tumor syndrome Orphanet:252206 MONDO:equivalentTo Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma and neural system tumor syndrome -MONDO:0007969 Melkersson-Rosenthal syndrome Orphanet:2483 MONDO:equivalentTo Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melkersson-rosenthal syndrome -MONDO:0007970 melorheostosis Orphanet:2485 MONDO:equivalentTo Melorheostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melorheostosis -MONDO:0007971 delayed membranous cranial ossification Orphanet:3034 MONDO:equivalentTo Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delayed membranous cranial ossification -MONDO:0007977 mesomelic dysplasia, Kantaputra type Orphanet:1836 MONDO:equivalentTo Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia, kantaputra type -MONDO:0007979 metachondromatosis Orphanet:2499 MONDO:equivalentTo Metachondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachondromatosis -MONDO:0007982 metaphyseal chondrodysplasia, Jansen type Orphanet:33067 MONDO:equivalentTo Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, jansen type -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Orphanet:2504 MONDO:equivalentTo Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome -MONDO:0007986 metatropic dysplasia Orphanet:2635 MONDO:equivalentTo Metatropic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metatropic dysplasia -MONDO:0007987 Kniest dysplasia Orphanet:485 MONDO:equivalentTo Kniest dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kniest dysplasia -MONDO:0007988 autosomal dominant primary microcephaly Orphanet:2514 MONDO:equivalentTo Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant primary microcephaly -MONDO:0007989 congenital microcoria Orphanet:566 MONDO:equivalentTo Congenital microcoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital microcoria -MONDO:0007990 multiple benign circumferential skin creases on limbs Orphanet:2505 MONDO:equivalentTo Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple benign circumferential skin creases on limbs -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome Orphanet:2533 MONDO:equivalentTo Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-deafness-intellectual disability syndrome -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome Orphanet:2536 MONDO:equivalentTo Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcornea-glaucoma-absent frontal sinuses syndrome -MONDO:0007993 microgastria-limb reduction defect syndrome Orphanet:2538 MONDO:equivalentTo Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microgastria-limb reduction defect syndrome -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome Orphanet:2551 MONDO:equivalentTo Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microspherophakia-metaphyseal dysplasia syndrome -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia Orphanet:254892 MONDO:equivalentTo Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant progressive external ophthalmoplegia -MONDO:0008004 familial mitral valve prolapse Orphanet:741 MONDO:equivalentTo Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mitral valve prolapse -MONDO:0008005 cardiospondylocarpofacial syndrome Orphanet:3238 MONDO:equivalentTo Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiospondylocarpofacial syndrome -MONDO:0008008 MOMO syndrome Orphanet:2563 MONDO:equivalentTo MOMO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label momo syndrome -MONDO:0008009 monilethrix Orphanet:573 MONDO:equivalentTo Monilethrix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monilethrix -MONDO:0008016 trismus-pseudocamptodactyly syndrome Orphanet:3377 MONDO:equivalentTo Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trismus-pseudocamptodactyly syndrome -MONDO:0008017 hereditary mucoepithelial dysplasia Orphanet:1839 MONDO:equivalentTo Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary mucoepithelial dysplasia -MONDO:0008018 Muir-Torre syndrome Orphanet:587 MONDO:equivalentTo Muir-Torre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muir-torre syndrome -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Orphanet:2579 MONDO:equivalentTo Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome -MONDO:0008029 Bethlem myopathy Orphanet:610 MONDO:equivalentTo Bethlem myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy -MONDO:0008038 ataxia-pancytopenia syndrome Orphanet:2585 MONDO:equivalentTo Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-pancytopenia syndrome -MONDO:0008039 tropical spastic paraparesis Orphanet:289326 MONDO:equivalentTo Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical spastic paraparesis -MONDO:0008040 transient myeloproliferative syndrome Orphanet:420611 MONDO:equivalentTo Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient myeloproliferative syndrome -MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome Orphanet:2589 MONDO:equivalentTo Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonus-cerebellar ataxia-deafness syndrome -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome Orphanet:2590 MONDO:equivalentTo Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy-progressive myoclonic epilepsy syndrome -MONDO:0008046 autosomal dominant myoglobinuria Orphanet:99846 MONDO:equivalentTo Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant myoglobinuria -MONDO:0008047 episodic ataxia type 1 Orphanet:37612 MONDO:equivalentTo Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 1 -MONDO:0008048 autosomal dominant centronuclear myopathy Orphanet:169189 MONDO:equivalentTo Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant centronuclear myopathy -MONDO:0008051 tubular aggregate myopathy Orphanet:2593 MONDO:equivalentTo Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubular aggregate myopathy -MONDO:0008054 juvenile dermatomyositis Orphanet:93672 MONDO:equivalentTo Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis -MONDO:0008058 cylindrical spirals myopathy Orphanet:171886 MONDO:equivalentTo Cylindrical spirals myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cylindrical spirals myopathy -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome Orphanet:69087 MONDO:equivalentTo Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label naegeli-franceschetti-jadassohn syndrome -MONDO:0008061 nail-patella syndrome Orphanet:2614 MONDO:equivalentTo Nail-patella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail-patella syndrome -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension Orphanet:88659 MONDO:equivalentTo Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant progressive nephropathy with hypertension -MONDO:0008082 multiple endocrine neoplasia type 2B Orphanet:247709 MONDO:equivalentTo Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2b -MONDO:0008087 hereditary neuropathy with liability to pressure palsies Orphanet:640 MONDO:equivalentTo Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neuropathy with liability to pressure palsies -MONDO:0008092 hereditary neutrophilia Orphanet:279943 MONDO:equivalentTo Hereditary neutrophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neutrophilia -MONDO:0008094 familial multiple nevi flammei Orphanet:624 MONDO:equivalentTo Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple nevi flammei -MONDO:0008101 familial supernumerary nipples Orphanet:2456 MONDO:equivalentTo Familial supernumerary nipples semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial supernumerary nipples -MONDO:0008108 oculocerebrocutaneous syndrome Orphanet:1647 MONDO:equivalentTo Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebrocutaneous syndrome -MONDO:0008109 ocular cicatricial pemphigoid Orphanet:99922 MONDO:equivalentTo Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cicatricial pemphigoid -MONDO:0008111 oculodentodigital dysplasia Orphanet:2710 MONDO:equivalentTo Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculodentodigital dysplasia -MONDO:0008113 Schilbach-Rott syndrome Orphanet:2353 MONDO:equivalentTo Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schilbach-rott syndrome -MONDO:0008115 Feingold syndrome type 1 Orphanet:391641 MONDO:equivalentTo Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome type 1 -MONDO:0008116 oculopharyngeal muscular dystrophy Orphanet:270 MONDO:equivalentTo Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome Orphanet:2724 MONDO:equivalentTo Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontomatosis-aortae esophagus stenosis syndrome -MONDO:0008119 spinocerebellar ataxia type 1 Orphanet:98755 MONDO:equivalentTo Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 1 -MONDO:0008123 autosomal dominant omodysplasia Orphanet:93328 MONDO:equivalentTo Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant omodysplasia -MONDO:0008127 ophthalmomandibulomelic dysplasia Orphanet:2741 MONDO:equivalentTo Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmomandibulomelic dysplasia -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Orphanet:2743 MONDO:equivalentTo Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmoplegia-intellectual disability-lingua scrotalis syndrome -MONDO:0008134 autosomal dominant optic atrophy, classic form Orphanet:98673 MONDO:equivalentTo Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy, classic form +MONDO:0004672 fasciolopsiasis Orphanet:658909 MONDO:equivalentTo Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis +MONDO:0005705 clonorchiasis Orphanet:658917 MONDO:equivalentTo Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis +MONDO:0005895 paragonimiasis Orphanet:658913 MONDO:equivalentTo Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis MONDO:0008136 isolated optic nerve hypoplasia Orphanet:637061 MONDO:equivalentTo Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia -MONDO:0008138 syndromic orbital border hypoplasia Orphanet:98606 MONDO:equivalentTo Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic orbital border hypoplasia -MONDO:0008139 OSLAM syndrome Orphanet:2760 MONDO:equivalentTo OSLAM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oslam syndrome -MONDO:0008142 Thiemann disease, familial form Orphanet:3314 MONDO:equivalentTo Thiemann disease, familial form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiemann disease, familial form -MONDO:0008145 Ollier disease Orphanet:296 MONDO:equivalentTo Ollier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ollier disease -MONDO:0008146 osteogenesis imperfecta type 1 Orphanet:216796 MONDO:equivalentTo Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 1 -MONDO:0008147 osteogenesis imperfecta type 2 Orphanet:216804 MONDO:equivalentTo Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 2 -MONDO:0008148 osteogenesis imperfecta type 4 Orphanet:216820 MONDO:equivalentTo Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 4 -MONDO:0008151 gnathodiaphyseal dysplasia Orphanet:53697 MONDO:equivalentTo Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnathodiaphyseal dysplasia -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy Orphanet:2774 MONDO:equivalentTo Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric carpo-tarsal osteolysis with or without nephropathy -MONDO:0008153 progressive osseous heteroplasia Orphanet:2762 MONDO:equivalentTo Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive osseous heteroplasia -MONDO:0008155 osteomesopyknosis Orphanet:2777 MONDO:equivalentTo Osteomesopyknosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomesopyknosis -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome Orphanet:1562 MONDO:equivalentTo Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryocystitis-osteopoikilosis syndrome -MONDO:0008161 otodental syndrome Orphanet:2791 MONDO:equivalentTo Otodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otodental syndrome -MONDO:0008163 otofaciocervical syndrome Orphanet:2792 MONDO:equivalentTo Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otofaciocervical syndrome -MONDO:0008165 southeast Asian ovalocytosis Orphanet:98868 MONDO:equivalentTo Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label southeast asian ovalocytosis -MONDO:0008168 ovarian fibroma Orphanet:314473 MONDO:equivalentTo Ovarian fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian fibroma -MONDO:0008170 ovarian cancer Orphanet:213500 MONDO:equivalentTo Ovarian cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cancer -MONDO:0008177 extramammary Paget disease Orphanet:2800 MONDO:equivalentTo Extramammary Paget disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramammary paget disease -MONDO:0008179 paroxysmal extreme pain disorder Orphanet:46348 MONDO:equivalentTo Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal extreme pain disorder -MONDO:0008180 congenital velopharyngeal incompetence Orphanet:2291 MONDO:equivalentTo Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital velopharyngeal incompetence -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome Orphanet:2399 MONDO:equivalentTo Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008183 annular pancreas Orphanet:675 MONDO:equivalentTo Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas -MONDO:0008185 hereditary chronic pancreatitis Orphanet:676 MONDO:equivalentTo Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary chronic pancreatitis -MONDO:0008195 paramyotonia congenita of Von Eulenburg Orphanet:684 MONDO:equivalentTo Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramyotonia congenita of von eulenburg -MONDO:0008196 parastremmatic dwarfism Orphanet:2646 MONDO:equivalentTo Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parastremmatic dwarfism -MONDO:0008201 Perry syndrome Orphanet:178509 MONDO:equivalentTo Perry syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perry syndrome -MONDO:0008205 patella aplasia/hypoplasia Orphanet:86789 MONDO:equivalentTo Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patella aplasia/hypoplasia -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia Orphanet:1179 MONDO:equivalentTo Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign paroxysmal tonic upgaze of childhood with ataxia -MONDO:0008209 Char syndrome Orphanet:46627 MONDO:equivalentTo Char syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label char syndrome -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type Orphanet:2976 MONDO:equivalentTo Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoleprechaunism syndrome, patterson type -MONDO:0008217 pelvis-shoulder dysplasia Orphanet:2839 MONDO:equivalentTo Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvis-shoulder dysplasia -MONDO:0008219 pemphigus vulgaris Orphanet:704 MONDO:equivalentTo Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris -MONDO:0008221 prolidase deficiency Orphanet:742 MONDO:equivalentTo Prolidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prolidase deficiency -MONDO:0008222 Andersen-Tawil syndrome Orphanet:37553 MONDO:equivalentTo Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label andersen-tawil syndrome -MONDO:0008223 hypokalemic periodic paralysis Orphanet:681 MONDO:equivalentTo Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypokalemic periodic paralysis -MONDO:0008224 hyperkalemic periodic paralysis Orphanet:682 MONDO:equivalentTo Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperkalemic periodic paralysis -MONDO:0008227 peripheral dysostosis Orphanet:1795 MONDO:equivalentTo Peripheral dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral dysostosis -MONDO:0008234 multiple endocrine neoplasia type 2A Orphanet:247698 MONDO:equivalentTo Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2a -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Orphanet:2878 MONDO:equivalentTo Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome -MONDO:0008244 piebaldism Orphanet:2884 MONDO:equivalentTo Piebaldism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piebaldism -MONDO:0008245 piebald trait-neurologic defects syndrome Orphanet:2885 MONDO:equivalentTo Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piebald trait-neurologic defects syndrome -MONDO:0008246 pigmented paravenous retinochoroidal atrophy Orphanet:251295 MONDO:equivalentTo Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigmented paravenous retinochoroidal atrophy -MONDO:0008247 Robin sequence-oligodactyly syndrome Orphanet:3104 MONDO:equivalentTo Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robin sequence-oligodactyly syndrome -MONDO:0008250 isolated growth hormone deficiency type II Orphanet:231679 MONDO:equivalentTo Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ii -MONDO:0008259 familial spontaneous pneumothorax Orphanet:2903 MONDO:equivalentTo Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial spontaneous pneumothorax -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type Orphanet:221039 MONDO:equivalentTo Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sclerosing poikiloderma, weary type -MONDO:0008262 Poland syndrome Orphanet:2911 MONDO:equivalentTo Poland syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poland syndrome -MONDO:0008268 polydactyly-myopia syndrome Orphanet:2917 MONDO:equivalentTo Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly-myopia syndrome -MONDO:0008270 polydactyly of a triphalangeal thumb Orphanet:93336 MONDO:equivalentTo Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly of a triphalangeal thumb -MONDO:0008271 polydactyly of an index finger Orphanet:93337 MONDO:equivalentTo Polydactyly of an index finger semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly of an index finger -MONDO:0008273 actinic prurigo Orphanet:330061 MONDO:equivalentTo Actinic prurigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic prurigo -MONDO:0008274 polyostotic fibrous dysplasia Orphanet:93276 MONDO:equivalentTo Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia -MONDO:0008275 familial expansile osteolysis Orphanet:85195 MONDO:equivalentTo Familial expansile osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial expansile osteolysis -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli Orphanet:329971 MONDO:equivalentTo Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized juvenile polyposis/juvenile polyposis coli -MONDO:0008280 Peutz-Jeghers syndrome Orphanet:2869 MONDO:equivalentTo Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peutz-jeghers syndrome -MONDO:0008283 Cronkhite-Canada syndrome Orphanet:2930 MONDO:equivalentTo Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cronkhite-canada syndrome -MONDO:0008286 crossed polysyndactyly Orphanet:2935 MONDO:equivalentTo Crossed polysyndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crossed polysyndactyly -MONDO:0008287 Greig cephalopolysyndactyly syndrome Orphanet:380 MONDO:equivalentTo Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label greig cephalopolysyndactyly syndrome -MONDO:0008291 porokeratosis plantaris palmaris et disseminata Orphanet:737 MONDO:equivalentTo Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis plantaris palmaris et disseminata -MONDO:0008292 punctate palmoplantar keratoderma type 2 Orphanet:79502 MONDO:equivalentTo Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma type 2 -MONDO:0008294 acute intermittent porphyria Orphanet:79276 MONDO:equivalentTo Acute intermittent porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute intermittent porphyria -MONDO:0008295 sporadic porphyria cutanea tarda Orphanet:443057 MONDO:equivalentTo Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic porphyria cutanea tarda -MONDO:0008296 familial porphyria cutanea tarda Orphanet:443062 MONDO:equivalentTo Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial porphyria cutanea tarda -MONDO:0008298 postaxial tetramelic oligodactyly Orphanet:2730 MONDO:equivalentTo Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial tetramelic oligodactyly -MONDO:0008300 Prader-Willi syndrome Orphanet:739 MONDO:equivalentTo Prader-Willi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome -MONDO:0008301 Guttmacher syndrome Orphanet:2957 MONDO:equivalentTo Guttmacher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttmacher syndrome -MONDO:0008306 ABri amyloidosis Orphanet:97345 MONDO:equivalentTo ABri amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abri amyloidosis -MONDO:0008310 Hutchinson-Gilford progeria syndrome Orphanet:740 MONDO:equivalentTo Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hutchinson-gilford progeria syndrome -MONDO:0008311 progeria-short stature-pigmented nevi syndrome Orphanet:2959 MONDO:equivalentTo Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria-short stature-pigmented nevi syndrome -MONDO:0008312 autosomal dominant prognathism Orphanet:2964 MONDO:equivalentTo Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant prognathism -MONDO:0008318 Proteus syndrome Orphanet:744 MONDO:equivalentTo Proteus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus syndrome -MONDO:0008322 pseudoachondroplasia Orphanet:750 MONDO:equivalentTo Pseudoachondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoachondroplasia -MONDO:0008323 Liddle syndrome Orphanet:526 MONDO:equivalentTo Liddle syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liddle syndrome -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome Orphanet:2994 MONDO:equivalentTo Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-craniofacial anomalies-genital hypoplasia syndrome -MONDO:0008337 familial pterygium of the conjunctiva Orphanet:2989 MONDO:equivalentTo Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pterygium of the conjunctiva -MONDO:0008339 antecubital pterygium syndrome Orphanet:2987 MONDO:equivalentTo Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antecubital pterygium syndrome -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome Orphanet:2999 MONDO:equivalentTo Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-strabismus-ectopic pupils syndrome -MONDO:0008343 pulmonary atresia with ventricular septal defect Orphanet:1207 MONDO:equivalentTo Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary atresia with ventricular septal defect -MONDO:0008348 pulmonary nodular lymphoid hyperplasia Orphanet:60026 MONDO:equivalentTo Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary nodular lymphoid hyperplasia -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy Orphanet:64745 MONDO:equivalentTo Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pruritic urticarial papules and plaques of pregnancy -MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Orphanet:2252 MONDO:equivalentTo Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome Orphanet:3026 MONDO:equivalentTo Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial ray hypoplasia-choanal atresia syndrome -MONDO:0008359 radio-renal syndrome Orphanet:3015 MONDO:equivalentTo Radio-renal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-renal syndrome -MONDO:0008365 recombinant 8 syndrome Orphanet:96167 MONDO:equivalentTo Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recombinant 8 syndrome -MONDO:0008368 autosomal dominant distal renal tubular acidosis Orphanet:93608 MONDO:equivalentTo Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal renal tubular acidosis -MONDO:0008369 proximal renal tubular acidosis Orphanet:47159 MONDO:equivalentTo Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis -MONDO:0008371 Dowling-Degos disease Orphanet:79145 MONDO:equivalentTo Dowling-Degos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dowling-degos disease -MONDO:0008373 retinal arterial tortuosity Orphanet:75326 MONDO:equivalentTo Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal arterial tortuosity -MONDO:0008380 retinoblastoma Orphanet:790 MONDO:equivalentTo Retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma -MONDO:0008387 ring dermoid of cornea Orphanet:91481 MONDO:equivalentTo Ring dermoid of cornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring dermoid of cornea -MONDO:0008388 ringed hair disease Orphanet:169 MONDO:equivalentTo Ringed hair disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ringed hair disease -MONDO:0008389 autosomal dominant Robinow syndrome Orphanet:3107 MONDO:equivalentTo Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant robinow syndrome -MONDO:0008390 Rombo syndrome Orphanet:3110 MONDO:equivalentTo Rombo syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rombo syndrome -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations Orphanet:353277 MONDO:equivalentTo Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to crebbp mutations -MONDO:0008394 Silver-Russell syndrome Orphanet:813 MONDO:equivalentTo Silver-Russell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome -MONDO:0008395 Ruvalcaba syndrome Orphanet:3121 MONDO:equivalentTo Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ruvalcaba syndrome -MONDO:0008396 oculodental syndrome, Rutherfurd type Orphanet:2709 MONDO:equivalentTo Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculodental syndrome, rutherfurd type -MONDO:0008397 aplasia of lacrimal and salivary glands Orphanet:86815 MONDO:equivalentTo Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia of lacrimal and salivary glands -MONDO:0008402 cleft palate-large ears-small head syndrome Orphanet:2013 MONDO:equivalentTo Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-large ears-small head syndrome -MONDO:0008403 scalp defects-postaxial polydactyly syndrome Orphanet:1003 MONDO:equivalentTo Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp defects-postaxial polydactyly syndrome -MONDO:0008404 scalp-ear-nipple syndrome Orphanet:2036 MONDO:equivalentTo Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp-ear-nipple syndrome -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type Orphanet:85146 MONDO:equivalentTo Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurogenic scapuloperoneal syndrome, kaeser type -MONDO:0008411 ulnar-mammary syndrome Orphanet:3138 MONDO:equivalentTo Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar-mammary syndrome -MONDO:0008421 flat face-microstomia-ear anomaly syndrome Orphanet:1968 MONDO:equivalentTo Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flat face-microstomia-ear anomaly syndrome -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type Orphanet:3164 MONDO:equivalentTo Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele syndrome, shprintzen-goldberg type -MONDO:0008426 Shprintzen-Goldberg syndrome Orphanet:2462 MONDO:equivalentTo Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shprintzen-goldberg syndrome -MONDO:0008429 Singleton-Merten dysplasia Orphanet:85191 MONDO:equivalentTo Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label singleton-merten dysplasia -MONDO:0008434 Smith-Magenis syndrome Orphanet:819 MONDO:equivalentTo Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-magenis syndrome -MONDO:0008436 Sneddon syndrome Orphanet:820 MONDO:equivalentTo Sneddon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sneddon syndrome -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome Orphanet:2820 MONDO:equivalentTo Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-nephritis-deafness syndrome -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome Orphanet:2821 MONDO:equivalentTo Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-neuropathy-poikiloderma syndrome -MONDO:0008443 spastic paraplegia-precocious puberty syndrome Orphanet:2826 MONDO:equivalentTo Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-precocious puberty syndrome -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Orphanet:3038 MONDO:equivalentTo Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome -MONDO:0008457 spinocerebellar ataxia type 6 Orphanet:98758 MONDO:equivalentTo Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 6 -MONDO:0008458 spinocerebellar ataxia type 2 Orphanet:98756 MONDO:equivalentTo Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 2 -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome Orphanet:2063 MONDO:equivalentTo Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenogonadal fusion-limb defects-micrognathia syndrome -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome Orphanet:2439 MONDO:equivalentTo Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patterson-stevenson-fontaine syndrome -MONDO:0008466 Karsch-Neugebauer syndrome Orphanet:2329 MONDO:equivalentTo Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karsch-neugebauer syndrome -MONDO:0008467 Czeizel-Losonci syndrome Orphanet:2437 MONDO:equivalentTo Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label czeizel-losonci syndrome -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Orphanet:168443 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-hypotrichosis syndrome -MONDO:0008471 spondyloepiphyseal dysplasia congenita Orphanet:94068 MONDO:equivalentTo Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia congenita -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type Orphanet:163668 MONDO:equivalentTo Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, macdermot type -MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type Orphanet:93314 MONDO:equivalentTo Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, kozlowski type -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type Orphanet:93316 MONDO:equivalentTo Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, schmidt type -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type Orphanet:93315 MONDO:equivalentTo Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, 'corner fracture' type -MONDO:0008482 Sprengel deformity Orphanet:3181 MONDO:equivalentTo Sprengel deformity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sprengel deformity -MONDO:0008484 stapes ankylosis with broad thumbs and toes Orphanet:140917 MONDO:equivalentTo Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stapes ankylosis with broad thumbs and toes -MONDO:0008485 sebocystomatosis Orphanet:841 MONDO:equivalentTo Sebocystomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sebocystomatosis -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome Orphanet:3184 MONDO:equivalentTo Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steatocystoma multiplex-natal teeth syndrome -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome Orphanet:3186 MONDO:equivalentTo Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-radial heart renal anomalies syndrome -MONDO:0008492 stiff skin syndrome Orphanet:2833 MONDO:equivalentTo Stiff skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stiff skin syndrome -MONDO:0008493 overhydrated hereditary stomatocytosis Orphanet:3203 MONDO:equivalentTo Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overhydrated hereditary stomatocytosis -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome Orphanet:2863 MONDO:equivalentTo Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-wormian bones-dextrocardia syndrome -MONDO:0008501 Sturge-Weber syndrome Orphanet:3205 MONDO:equivalentTo Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sturge-weber syndrome -MONDO:0008503 Worster-Drought syndrome Orphanet:3465 MONDO:equivalentTo Worster-Drought syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label worster-drought syndrome -MONDO:0008504 supravalvular aortic stenosis Orphanet:3193 MONDO:equivalentTo Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular aortic stenosis -MONDO:0008509 distal symphalangism Orphanet:3248 MONDO:equivalentTo Distal symphalangism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal symphalangism -MONDO:0008510 symphalangism with multiple anomalies of hands and feet Orphanet:3246 MONDO:equivalentTo Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symphalangism with multiple anomalies of hands and feet -MONDO:0008511 proximal symphalangism Orphanet:3250 MONDO:equivalentTo Proximal symphalangism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal symphalangism -MONDO:0008512 syndactyly type 1 Orphanet:93402 MONDO:equivalentTo Syndactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 1 -MONDO:0008513 synpolydactyly type 1 Orphanet:295195 MONDO:equivalentTo Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 1 -MONDO:0008514 syndactyly type 3 Orphanet:93404 MONDO:equivalentTo Syndactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 3 -MONDO:0008515 syndactyly type 4 Orphanet:93405 MONDO:equivalentTo Syndactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 4 -MONDO:0008516 syndactyly type 5 Orphanet:93406 MONDO:equivalentTo Syndactyly type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 5 -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome Orphanet:3259 MONDO:equivalentTo Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-polydactyly-ear lobe syndrome -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome Orphanet:1275 MONDO:equivalentTo Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-elbow wrist dysplasia syndrome -MONDO:0008521 tarsal-carpal coalition syndrome Orphanet:1412 MONDO:equivalentTo Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal-carpal coalition syndrome -MONDO:0008523 Blau syndrome Orphanet:90340 MONDO:equivalentTo Blau syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blau syndrome -MONDO:0008534 generalized essential telangiectasia Orphanet:280774 MONDO:equivalentTo Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized essential telangiectasia -MONDO:0008540 extensor tendons of finger anomalies Orphanet:3294 MONDO:equivalentTo Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensor tendons of finger anomalies -MONDO:0008542 tetralogy of fallot Orphanet:3303 MONDO:equivalentTo Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot -MONDO:0008544 tetramelic monodactyly Orphanet:2564 MONDO:equivalentTo Tetramelic monodactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetramelic monodactyly -MONDO:0008546 thanatophoric dysplasia type 1 Orphanet:1860 MONDO:equivalentTo Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia type 1 -MONDO:0008547 thanatophoric dysplasia type 2 Orphanet:93274 MONDO:equivalentTo Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia type 2 -MONDO:0008551 thoracolaryngopelvic dysplasia Orphanet:3317 MONDO:equivalentTo Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracolaryngopelvic dysplasia -MONDO:0008557 Paris-Trousseau thrombocytopenia Orphanet:851 MONDO:equivalentTo Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paris-trousseau thrombocytopenia -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome Orphanet:2251 MONDO:equivalentTo Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thumb deformity-alopecia-pigmentation anomaly syndrome -MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome Orphanet:1078 MONDO:equivalentTo Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thumb stiffness-brachydactyly-intellectual disability syndrome -MONDO:0008565 familial thyroglossal duct cyst Orphanet:93953 MONDO:equivalentTo Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroglossal duct cyst -MONDO:0008585 HELLP syndrome Orphanet:244242 MONDO:equivalentTo HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome -MONDO:0008587 tracheobronchopathia osteochondroplastica Orphanet:3348 MONDO:equivalentTo Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheobronchopathia osteochondroplastica -MONDO:0008588 hereditary geniospasm Orphanet:53372 MONDO:equivalentTo Hereditary geniospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary geniospasm -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome Orphanet:3350 MONDO:equivalentTo Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tremor-nystagmus-duodenal ulcer syndrome -MONDO:0008592 tricho-dento-osseous syndrome Orphanet:3352 MONDO:equivalentTo Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricho-dento-osseous syndrome -MONDO:0008594 familial multiple discoid fibromas Orphanet:538756 MONDO:equivalentTo Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple discoid fibromas -MONDO:0008598 trichodysplasia-xeroderma syndrome Orphanet:3361 MONDO:equivalentTo Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodysplasia-xeroderma syndrome -MONDO:0008599 trigeminal neuralgia Orphanet:221091 MONDO:equivalentTo Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome Orphanet:2947 MONDO:equivalentTo Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triphalangeal thumbs-brachyectrodactyly syndrome -MONDO:0008608 Down syndrome Orphanet:870 MONDO:equivalentTo Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome -MONDO:0008611 humerus trochlea aplasia Orphanet:3383 MONDO:equivalentTo Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humerus trochlea aplasia -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type Orphanet:2634 MONDO:equivalentTo Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dwarfism, reinhardt-pfeiffer type -MONDO:0008619 ulna metaphyseal dysplasia syndrome Orphanet:1837 MONDO:equivalentTo Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulna metaphyseal dysplasia syndrome -MONDO:0008620 upper limb mesomelic dysplasia Orphanet:2497 MONDO:equivalentTo Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb mesomelic dysplasia -MONDO:0008621 uncombable hair syndrome Orphanet:1410 MONDO:equivalentTo Uncombable hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uncombable hair syndrome -MONDO:0008622 tricho-retino-dento-digital syndrome Orphanet:1264 MONDO:equivalentTo Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricho-retino-dento-digital syndrome -MONDO:0008624 Upington disease Orphanet:3408 MONDO:equivalentTo Upington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upington disease -MONDO:0008633 Muckle-Wells syndrome Orphanet:575 MONDO:equivalentTo Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muckle-wells syndrome -MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome Orphanet:3411 MONDO:equivalentTo Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double uterus-hemivagina-renal agenesis syndrome -MONDO:0008637 bifid uvula Orphanet:99771 MONDO:equivalentTo Bifid uvula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bifid uvula -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Orphanet:247691 MONDO:equivalentTo Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -MONDO:0008642 VACTERL/vater association Orphanet:887 MONDO:equivalentTo VACTERL/VATER association semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vacterl/vater association -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome Orphanet:3201 MONDO:equivalentTo Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Orphanet:2064 MONDO:equivalentTo Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome -MONDO:0008652 congenital vertical talus Orphanet:178382 MONDO:equivalentTo Congenital vertical talus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus -MONDO:0008659 transcobalamin I deficiency Orphanet:2967 MONDO:equivalentTo Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin i deficiency -MONDO:0008660 autosomal dominant hypophosphatemic rickets Orphanet:89937 MONDO:equivalentTo Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypophosphatemic rickets -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy Orphanet:3086 MONDO:equivalentTo Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant vitreoretinochoroidopathy -MONDO:0008663 snowflake vitreoretinal degeneration Orphanet:91496 MONDO:equivalentTo Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label snowflake vitreoretinal degeneration -MONDO:0008665 ptosis-vocal cord paralysis syndrome Orphanet:2997 MONDO:equivalentTo Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-vocal cord paralysis syndrome -MONDO:0008667 von Hippel-Lindau disease Orphanet:892 MONDO:equivalentTo Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von hippel-lindau disease -MONDO:0008670 Waardenburg syndrome type 1 Orphanet:894 MONDO:equivalentTo Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 1 -MONDO:0008673 acrofacial dysostosis, Weyers type Orphanet:952 MONDO:equivalentTo Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, weyers type -MONDO:0008675 Freeman-Sheldon syndrome Orphanet:2053 MONDO:equivalentTo Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label freeman-sheldon syndrome -MONDO:0008678 Williams syndrome Orphanet:904 MONDO:equivalentTo Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams syndrome -MONDO:0008681 WAGR syndrome Orphanet:893 MONDO:equivalentTo WAGR syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wagr syndrome -MONDO:0008682 Denys-Drash syndrome Orphanet:220 MONDO:equivalentTo Denys-Drash syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label denys-drash syndrome -MONDO:0008684 Wolf-Hirschhorn syndrome Orphanet:280 MONDO:equivalentTo Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolf-hirschhorn syndrome -MONDO:0008688 WT limb-blood syndrome Orphanet:3466 MONDO:equivalentTo WT limb-blood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wt limb-blood syndrome -MONDO:0008692 abetalipoproteinemia Orphanet:14 MONDO:equivalentTo Abetalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetalipoproteinemia -MONDO:0008693 ablepharon macrostomia syndrome Orphanet:920 MONDO:equivalentTo Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ablepharon macrostomia syndrome -MONDO:0008694 pseudoprogeria syndrome Orphanet:2985 MONDO:equivalentTo Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoprogeria syndrome -MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Orphanet:90301 MONDO:equivalentTo Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet:935 MONDO:equivalentTo Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short-limb skeletal dysplasia with severe combined immunodeficiency -MONDO:0008705 lysosomal acid phosphatase deficiency Orphanet:35121 MONDO:equivalentTo Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid phosphatase deficiency -MONDO:0008707 acro-renal-mandibular syndrome Orphanet:958 MONDO:equivalentTo Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acro-renal-mandibular syndrome -MONDO:0008708 acrocallosal syndrome Orphanet:36 MONDO:equivalentTo Acrocallosal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocallosal syndrome -MONDO:0008709 acrocephalopolydactyly Orphanet:221054 MONDO:equivalentTo Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocephalopolydactyly -MONDO:0008711 Goodman syndrome Orphanet:65798 MONDO:equivalentTo Goodman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goodman syndrome -MONDO:0008712 acrocraniofacial dysostosis Orphanet:949 MONDO:equivalentTo Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocraniofacial dysostosis -MONDO:0008713 acrodermatitis enteropathica Orphanet:37 MONDO:equivalentTo Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis enteropathica -MONDO:0008715 acrofrontofacionasal dysostosis Orphanet:1784 MONDO:equivalentTo Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofrontofacionasal dysostosis -MONDO:0008716 acrogeria Orphanet:2500 MONDO:equivalentTo Acrogeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrogeria -MONDO:0008718 Morvan syndrome Orphanet:83467 MONDO:equivalentTo Morvan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morvan syndrome -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency Orphanet:42 MONDO:equivalentTo Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medium chain acyl-coa dehydrogenase deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency Orphanet:26792 MONDO:equivalentTo Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short chain acyl-coa dehydrogenase deficiency -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency Orphanet:26793 MONDO:equivalentTo Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label very long chain acyl-coa dehydrogenase deficiency -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type Orphanet:2952 MONDO:equivalentTo Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adducted thumbs-arthrogryposis syndrome, christian type -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency Orphanet:90790 MONDO:equivalentTo Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lipoid adrenal hyperplasia due to star deficency -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Orphanet:90791 MONDO:equivalentTo Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Orphanet:90794 MONDO:equivalentTo Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Orphanet:90795 MONDO:equivalentTo Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Orphanet:90793 MONDO:equivalentTo Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone Orphanet:95700 MONDO:equivalentTo Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adrenal hypoplasia with absent pituitary luteinizing hormone -MONDO:0008733 familial glucocorticoid deficiency Orphanet:361 MONDO:equivalentTo Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial glucocorticoid deficiency -MONDO:0008741 PAGOD syndrome Orphanet:991 MONDO:equivalentTo PAGOD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pagod syndrome -MONDO:0008742 autosomal dominant severe congenital neutropenia Orphanet:486 MONDO:equivalentTo Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant severe congenital neutropenia -MONDO:0008743 Stimmler syndrome Orphanet:3199 MONDO:equivalentTo Stimmler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stimmler syndrome -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome Orphanet:2007 MONDO:equivalentTo Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alar cartilages hypoplasia-coloboma-telecanthus syndrome -MONDO:0008745 oculocutaneous albinism type 1A Orphanet:79431 MONDO:equivalentTo Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1a -MONDO:0008746 oculocutaneous albinism type 2 Orphanet:79432 MONDO:equivalentTo Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 2 -MONDO:0008747 oculocutaneous albinism type 3 Orphanet:79433 MONDO:equivalentTo Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 3 -MONDO:0008749 pseudohypoparathyroidism type 2 Orphanet:94090 MONDO:equivalentTo Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 2 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome Orphanet:2513 MONDO:equivalentTo Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-albinism-digital anomalies syndrome -MONDO:0008752 Alexander disease Orphanet:58 MONDO:equivalentTo Alexander disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease -MONDO:0008753 alkaptonuria Orphanet:56 MONDO:equivalentTo Alkaptonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alkaptonuria -MONDO:0008755 Moynahan syndrome Orphanet:2574 MONDO:equivalentTo Moynahan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moynahan syndrome -MONDO:0008760 beta-ketothiolase deficiency Orphanet:134 MONDO:equivalentTo Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-ketothiolase deficiency -MONDO:0008762 autosomal recessive Alport syndrome Orphanet:88919 MONDO:equivalentTo Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive alport syndrome -MONDO:0008766 amaurosis-hypertrichosis syndrome Orphanet:1021 MONDO:equivalentTo Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis-hypertrichosis syndrome -MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria Orphanet:79154 MONDO:equivalentTo 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-aminoadipic 2-oxoadipic aciduria -MONDO:0008777 gelatinous drop-like corneal dystrophy Orphanet:98957 MONDO:equivalentTo Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gelatinous drop-like corneal dystrophy -MONDO:0008783 Tangier disease Orphanet:31150 MONDO:equivalentTo Tangier disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tangier disease -MONDO:0008787 microcytic anemia with liver iron overload Orphanet:83642 MONDO:equivalentTo Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcytic anemia with liver iron overload -MONDO:0008788 IRIDA syndrome Orphanet:209981 MONDO:equivalentTo IRIDA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irida syndrome -MONDO:0008792 familial angiolipomatosis Orphanet:199279 MONDO:equivalentTo Familial angiolipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial angiolipomatosis -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome Orphanet:1065 MONDO:equivalentTo Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-cerebellar ataxia-intellectual disability syndrome -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome Orphanet:1064 MONDO:equivalentTo Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-renal agenesis-psychomotor retardation syndrome -MONDO:0008797 anodontia Orphanet:99797 MONDO:equivalentTo Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome Orphanet:77298 MONDO:equivalentTo Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia/microphthalmia-esophageal atresia syndrome -MONDO:0008800 microphthalmia with limb anomalies Orphanet:1106 MONDO:equivalentTo Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia with limb anomalies -MONDO:0008803 Antley-Bixler syndrome Orphanet:83 MONDO:equivalentTo Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Orphanet:1112 MONDO:equivalentTo Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome Orphanet:1116 MONDO:equivalentTo Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis congenita-intestinal lymphangiectasia syndrome -MONDO:0008810 familial apolipoprotein C-II deficiency Orphanet:309020 MONDO:equivalentTo Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial apolipoprotein c-ii deficiency -MONDO:0008812 AREDYLD syndrome Orphanet:1133 MONDO:equivalentTo AREDYLD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aredyld syndrome -MONDO:0008813 arachnoid cyst Orphanet:2356 MONDO:equivalentTo Arachnoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnoid cyst -MONDO:0008815 argininosuccinic aciduria Orphanet:23 MONDO:equivalentTo Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argininosuccinic aciduria -MONDO:0008818 arterial tortuosity syndrome Orphanet:3342 MONDO:equivalentTo Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial tortuosity syndrome -MONDO:0008824 fetal akinesia deformation sequence Orphanet:994 MONDO:equivalentTo Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome Orphanet:1150 MONDO:equivalentTo Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita-whistling face syndrome -MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form Orphanet:1485 MONDO:equivalentTo Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-hyperkeratosis syndrome, lethal form -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood Orphanet:1159 MONDO:equivalentTo Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive pseudorheumatoid arthropathy of childhood -MONDO:0008829 chylous ascites Orphanet:1160 MONDO:equivalentTo Chylous ascites semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chylous ascites -MONDO:0008830 aspartylglucosaminuria Orphanet:93 MONDO:equivalentTo Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspartylglucosaminuria -MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Orphanet:1192 MONDO:equivalentTo Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome -MONDO:0008847 atrichia with papular lesions Orphanet:86819 MONDO:equivalentTo Atrichia with papular lesions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrichia with papular lesions -MONDO:0008849 atrophoderma vermiculata Orphanet:79100 MONDO:equivalentTo Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophoderma vermiculata -MONDO:0008850 Cooper-Jabs syndrome Orphanet:1488 MONDO:equivalentTo Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cooper-jabs syndrome -MONDO:0008853 Barber-Say syndrome Orphanet:1231 MONDO:equivalentTo Barber-Say syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label barber-say syndrome -MONDO:0008857 Beemer-Ertbruggen syndrome Orphanet:1237 MONDO:equivalentTo Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beemer-ertbruggen syndrome -MONDO:0008863 sitosterolemia Orphanet:2882 MONDO:equivalentTo Sitosterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sitosterolemia -MONDO:0008864 Biemond syndrome type 2 Orphanet:141333 MONDO:equivalentTo Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biemond syndrome type 2 -MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II Orphanet:2637 MONDO:equivalentTo Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic primordial dwarfism type ii -MONDO:0008874 Bangstad syndrome Orphanet:1227 MONDO:equivalentTo Bangstad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bangstad syndrome -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Orphanet:2057 MONDO:equivalentTo Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome -MONDO:0008876 Bloom syndrome Orphanet:125 MONDO:equivalentTo Bloom syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bloom syndrome -MONDO:0008877 blue diaper syndrome Orphanet:94086 MONDO:equivalentTo Blue diaper syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blue diaper syndrome -MONDO:0008878 bone dysplasia, lethal Holmgren type Orphanet:1842 MONDO:equivalentTo Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone dysplasia, lethal holmgren type -MONDO:0008879 Bowen-Conradi syndrome Orphanet:1270 MONDO:equivalentTo Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bowen-conradi syndrome -MONDO:0008881 kyphomelic dysplasia Orphanet:1801 MONDO:equivalentTo Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphomelic dysplasia -MONDO:0008884 oculoosteocutaneous syndrome Orphanet:2713 MONDO:equivalentTo Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoosteocutaneous syndrome -MONDO:0008888 Williams-Campbell syndrome Orphanet:411501 MONDO:equivalentTo Williams-Campbell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label williams-campbell syndrome -MONDO:0008891 riboflavin transporter deficiency Orphanet:97229 MONDO:equivalentTo Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label riboflavin transporter deficiency -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 Orphanet:79306 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 1 -MONDO:0008893 C syndrome Orphanet:1308 MONDO:equivalentTo C syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c syndrome -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome Orphanet:1375 MONDO:equivalentTo Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-hypertrichosis-intellectual disability syndrome -MONDO:0008895 hereditary arterial and articular multiple calcification syndrome Orphanet:289601 MONDO:equivalentTo Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary arterial and articular multiple calcification syndrome -MONDO:0008896 campomelia, Cumming type Orphanet:1318 MONDO:equivalentTo Campomelia, Cumming type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label campomelia, cumming type -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 Orphanet:1327 MONDO:equivalentTo Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 1 -MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 Orphanet:1326 MONDO:equivalentTo Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 2 -MONDO:0008901 Tel Hashomer camptodactyly syndrome Orphanet:3292 MONDO:equivalentTo Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tel hashomer camptodactyly syndrome -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency Orphanet:457088 MONDO:equivalentTo Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label predisposition to invasive fungal disease due to card9 deficiency -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Orphanet:2229 MONDO:equivalentTo Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -MONDO:0008917 heart defects-limb shortening syndrome Orphanet:1354 MONDO:equivalentTo Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart defects-limb shortening syndrome -MONDO:0008918 carnitine-acylcarnitine translocase deficiency Orphanet:159 MONDO:equivalentTo Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine-acylcarnitine translocase deficiency -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia Orphanet:1366 MONDO:equivalentTo Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive palmoplantar keratoderma and congenital alopecia -MONDO:0008926 COFS syndrome Orphanet:1466 MONDO:equivalentTo COFS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cofs syndrome -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Orphanet:435930 MONDO:equivalentTo Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome Orphanet:1368 MONDO:equivalentTo Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-ataxia-deafness syndrome -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome Orphanet:1174 MONDO:equivalentTo Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-ectodermal dysplasia syndrome -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome Orphanet:1173 MONDO:equivalentTo Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-hypogonadism syndrome -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes Orphanet:1177 MONDO:equivalentTo Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset cerebellar ataxia with retained tendon reflexes -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome Orphanet:2031 MONDO:equivalentTo Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic fibrosis-renal cysts-intellectual disability syndrome -MONDO:0008947 bilateral striopallidodentate calcinosis Orphanet:1980 MONDO:equivalentTo Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral striopallidodentate calcinosis -MONDO:0008948 cerebrotendinous xanthomatosis Orphanet:909 MONDO:equivalentTo Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrotendinous xanthomatosis -MONDO:0008959 CHAND syndrome Orphanet:1401 MONDO:equivalentTo CHAND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chand syndrome -MONDO:0008961 Charcot-Marie-Tooth disease type 4A Orphanet:99948 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4a -MONDO:0008962 Griscelli syndrome type 1 Orphanet:79476 MONDO:equivalentTo Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 1 -MONDO:0008965 CHARGE syndrome Orphanet:138 MONDO:equivalentTo CHARGE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charge syndrome -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 Orphanet:309789 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 1 -MONDO:0008973 chondrodysplasia punctata, Toriello type Orphanet:79347 MONDO:equivalentTo Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata, toriello type -MONDO:0008974 Greenberg dysplasia Orphanet:1426 MONDO:equivalentTo Greenberg dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label greenberg dysplasia -MONDO:0008975 otospondylomegaepiphyseal dysplasia Orphanet:1427 MONDO:equivalentTo Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otospondylomegaepiphyseal dysplasia -MONDO:0008977 chondrosarcoma Orphanet:55880 MONDO:equivalentTo Chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrosarcoma -MONDO:0008978 chordoma Orphanet:178 MONDO:equivalentTo Chordoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chordoma -MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome Orphanet:1180 MONDO:equivalentTo Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-hypogonadism-choroidal dystrophy syndrome -MONDO:0008981 infantile choroidocerebral calcification syndrome Orphanet:1313 MONDO:equivalentTo Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile choroidocerebral calcification syndrome -MONDO:0008982 central areolar choroidal dystrophy Orphanet:75377 MONDO:equivalentTo Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central areolar choroidal dystrophy -MONDO:0008988 citrullinemia type I Orphanet:247525 MONDO:equivalentTo Citrullinemia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia type i -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome Orphanet:3429 MONDO:equivalentTo Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verloove vanhorick-brubakk syndrome -MONDO:0008992 Juberg-Hayward syndrome Orphanet:2319 MONDO:equivalentTo Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juberg-hayward syndrome -MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome Orphanet:2010 MONDO:equivalentTo Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-stapes fixation-oligodontia syndrome -MONDO:0008995 Yunis-Varon syndrome Orphanet:3472 MONDO:equivalentTo Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yunis-varon syndrome -MONDO:0008998 Cockayne syndrome type 3 Orphanet:90324 MONDO:equivalentTo Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 3 -MONDO:0008999 Cohen syndrome Orphanet:193 MONDO:equivalentTo Cohen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cohen syndrome -MONDO:0009000 familial reactive perforating collagenosis Orphanet:79147 MONDO:equivalentTo Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial reactive perforating collagenosis -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome Orphanet:91494 MONDO:equivalentTo Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular coloboma-cleft palate-hallux valgus syndrome -MONDO:0009007 Jalili syndrome Orphanet:1873 MONDO:equivalentTo Jalili syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jalili syndrome -MONDO:0009009 hypoplasminogenemia Orphanet:722 MONDO:equivalentTo Hypoplasminogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplasminogenemia -MONDO:0009010 aortic arch interruption Orphanet:2299 MONDO:equivalentTo Aortic arch interruption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch interruption -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome Orphanet:2215 MONDO:equivalentTo Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple pterygium-malignant hyperthermia syndrome -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome Orphanet:1490 MONDO:equivalentTo Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal dystrophy-perceptive deafness syndrome -MONDO:0009018 central cloudy dystrophy of François Orphanet:98972 MONDO:equivalentTo Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central cloudy dystrophy of françois -MONDO:0009020 macular corneal dystrophy Orphanet:98969 MONDO:equivalentTo Macular corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular corneal dystrophy -MONDO:0009021 Toriello-Carey syndrome Orphanet:3338 MONDO:equivalentTo Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toriello-carey syndrome -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome Orphanet:1389 MONDO:equivalentTo Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cortical blindness-intellectual disability-polydactyly syndrome -MONDO:0009025 apparent mineralocorticoid excess Orphanet:320 MONDO:equivalentTo Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apparent mineralocorticoid excess -MONDO:0009026 Costello syndrome Orphanet:3071 MONDO:equivalentTo Costello syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label costello syndrome -MONDO:0009028 Crane-Heise syndrome Orphanet:1512 MONDO:equivalentTo Crane-Heise syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crane-heise syndrome -MONDO:0009031 craniodiaphyseal dysplasia Orphanet:1513 MONDO:equivalentTo Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniodiaphyseal dysplasia -MONDO:0009032 cranioectodermal dysplasia Orphanet:1515 MONDO:equivalentTo Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranioectodermal dysplasia -MONDO:0009033 temtamy syndrome Orphanet:1777 MONDO:equivalentTo Temtamy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temtamy syndrome -MONDO:0009036 cardiocranial syndrome, Pfeiffer type Orphanet:2872 MONDO:equivalentTo Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiocranial syndrome, pfeiffer type -MONDO:0009039 Baller-Gerold syndrome Orphanet:1225 MONDO:equivalentTo Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baller-gerold syndrome -MONDO:0009042 craniotelencephalic dysplasia Orphanet:1528 MONDO:equivalentTo Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniotelencephalic dysplasia -MONDO:0009044 Crigler-Najjar syndrome Orphanet:205 MONDO:equivalentTo Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome Orphanet:1380 MONDO:equivalentTo Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-nephropathy-encephalopathy syndrome -MONDO:0009046 Fraser syndrome Orphanet:2052 MONDO:equivalentTo Fraser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraser syndrome -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome Orphanet:2881 MONDO:equivalentTo Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous photosensitivity-lethal colitis syndrome -MONDO:0009053 ALDH18A1-related de Barsy syndrome Orphanet:35664 MONDO:equivalentTo ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aldh18a1-related de barsy syndrome -MONDO:0009054 autosomal recessive cutis laxa type 2, classic type Orphanet:357074 MONDO:equivalentTo Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2, classic type -MONDO:0009055 cutis marmorata telangiectatica congenita Orphanet:1556 MONDO:equivalentTo Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis marmorata telangiectatica congenita -MONDO:0009058 cystathioninuria Orphanet:212 MONDO:equivalentTo Cystathioninuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystathioninuria -MONDO:0009061 cystic fibrosis Orphanet:586 MONDO:equivalentTo Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome Orphanet:2575 MONDO:equivalentTo Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis-gastritis-megaloblastic anemia syndrome -MONDO:0009063 ventriculomegaly-cystic kidney disease Orphanet:443988 MONDO:equivalentTo Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventriculomegaly-cystic kidney disease -MONDO:0009064 ocular cystinosis Orphanet:411641 MONDO:equivalentTo Ocular cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cystinosis -MONDO:0009066 juvenile nephropathic cystinosis Orphanet:411634 MONDO:equivalentTo Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile nephropathic cystinosis -MONDO:0009067 cystinuria Orphanet:214 MONDO:equivalentTo Cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Orphanet:70472 MONDO:equivalentTo Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactic acidosis, saguenay-lac-saint-jean type -MONDO:0009070 D-glyceric aciduria Orphanet:941 MONDO:equivalentTo D-glyceric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d-glyceric aciduria -MONDO:0009071 hereditary renal hypouricemia Orphanet:94088 MONDO:equivalentTo Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary renal hypouricemia -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Orphanet:1970 MONDO:equivalentTo Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome Orphanet:1566 MONDO:equivalentTo Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dandy-walker malformation-postaxial polydactyly syndrome -MONDO:0009079 DOORS syndrome Orphanet:79500 MONDO:equivalentTo DOORS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label doors syndrome -MONDO:0009082 high myopia-sensorineural deafness syndrome Orphanet:363396 MONDO:equivalentTo High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high myopia-sensorineural deafness syndrome -MONDO:0009083 conductive deafness-malformed external ear syndrome Orphanet:3216 MONDO:equivalentTo Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conductive deafness-malformed external ear syndrome -MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome Orphanet:3236 MONDO:equivalentTo Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conductive deafness-ptosis-skeletal anomalies syndrome -MONDO:0009085 deafness-vitiligo-achalasia syndrome Orphanet:3239 MONDO:equivalentTo Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-vitiligo-achalasia syndrome -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome Orphanet:3217 MONDO:equivalentTo Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-small bowel diverticulosis-neuropathy syndrome -MONDO:0009089 deafness-oligodontia syndrome Orphanet:3230 MONDO:equivalentTo Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-oligodontia syndrome -MONDO:0009093 dermatoleukodystrophy Orphanet:1659 MONDO:equivalentTo Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatoleukodystrophy -MONDO:0009094 dermochondrocorneal dystrophy Orphanet:79149 MONDO:equivalentTo Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermochondrocorneal dystrophy -MONDO:0009095 dermatoosteolysis, Kirghizian type Orphanet:1657 MONDO:equivalentTo Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatoosteolysis, kirghizian type -MONDO:0009104 Donnai-Barrow syndrome Orphanet:2143 MONDO:equivalentTo Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label donnai-barrow syndrome -MONDO:0009107 diastrophic dysplasia Orphanet:628 MONDO:equivalentTo Diastrophic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastrophic dysplasia -MONDO:0009109 lysinuric protein intolerance Orphanet:470 MONDO:equivalentTo Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysinuric protein intolerance -MONDO:0009110 dicarboxylic aminoaciduria Orphanet:2195 MONDO:equivalentTo Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicarboxylic aminoaciduria -MONDO:0009111 dihydropyrimidinuria Orphanet:38874 MONDO:equivalentTo Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropyrimidinuria -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 Orphanet:309796 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 2 -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency Orphanet:714 MONDO:equivalentTo Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to diphosphoglycerate mutase deficiency -MONDO:0009114 congenital sucrase-isomaltase deficiency Orphanet:35122 MONDO:equivalentTo Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sucrase-isomaltase deficiency -MONDO:0009115 congenital lactase deficiency Orphanet:53690 MONDO:equivalentTo Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency -MONDO:0009121 von Voss-Cherstvoy syndrome Orphanet:3439 MONDO:equivalentTo Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von voss-cherstvoy syndrome -MONDO:0009124 Dubowitz syndrome Orphanet:235 MONDO:equivalentTo Dubowitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dubowitz syndrome -MONDO:0009126 duodenal atresia Orphanet:1203 MONDO:equivalentTo Duodenal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal atresia -MONDO:0009130 Dyggve-Melchior-Clausen disease Orphanet:239 MONDO:equivalentTo Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyggve-melchior-clausen disease -MONDO:0009138 dysosteosclerosis Orphanet:1782 MONDO:equivalentTo Dysosteosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysosteosclerosis -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type Orphanet:156731 MONDO:equivalentTo Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyssegmental dysplasia, rolland-desbuquois type -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome Orphanet:1883 MONDO:equivalentTo Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-sensorineural deafness syndrome -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Orphanet:1812 MONDO:equivalentTo Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Orphanet:1882 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome Orphanet:3253 MONDO:equivalentTo Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-ectodermal dysplasia syndrome -MONDO:0009155 EEM syndrome Orphanet:1897 MONDO:equivalentTo EEM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eem syndrome -MONDO:0009156 ectrodactyly-polydactyly syndrome Orphanet:1892 MONDO:equivalentTo Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectrodactyly-polydactyly syndrome -MONDO:0009166 pontocerebellar hypoplasia type 4 Orphanet:166063 MONDO:equivalentTo Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 4 -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome Orphanet:1261 MONDO:equivalentTo Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bonnemann-meinecke-reich syndrome -MONDO:0009169 endocardial fibroelastosis Orphanet:2022 MONDO:equivalentTo Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency Orphanet:168601 MONDO:equivalentTo Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enteropathy due to enteropeptidase deficiency -MONDO:0009175 eosinophilic fasciitis Orphanet:3165 MONDO:equivalentTo Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic fasciitis -MONDO:0009176 epidermodysplasia verruciformis Orphanet:302 MONDO:equivalentTo Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermodysplasia verruciformis -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Orphanet:231556 MONDO:equivalentTo Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia Orphanet:79403 MONDO:equivalentTo Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa with pyloric atresia -MONDO:0009185 amelocerebrohypohidrotic syndrome Orphanet:1946 MONDO:equivalentTo Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelocerebrohypohidrotic syndrome -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome Orphanet:1459 MONDO:equivalentTo Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label celiac disease-epilepsy-cerebral calcification syndrome -MONDO:0009188 epilepsy-telangiectasia syndrome Orphanet:1951 MONDO:equivalentTo Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy-telangiectasia syndrome -MONDO:0009189 multiple epiphyseal dysplasia type 4 Orphanet:93307 MONDO:equivalentTo Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 4 -MONDO:0009191 Lowry-Wood syndrome Orphanet:1824 MONDO:equivalentTo Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowry-wood syndrome -MONDO:0009192 Wolcott-Rallison syndrome Orphanet:1667 MONDO:equivalentTo Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolcott-rallison syndrome -MONDO:0009196 ermine phenotype Orphanet:999 MONDO:equivalentTo Ermine phenotype semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ermine phenotype -MONDO:0009197 transient erythroblastopenia of childhood Orphanet:98871 MONDO:equivalentTo Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient erythroblastopenia of childhood -MONDO:0009198 congenital lethal erythroderma Orphanet:1954 MONDO:equivalentTo Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lethal erythroderma -MONDO:0009200 eyebrow duplication-syndactyly syndrome Orphanet:3172 MONDO:equivalentTo Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eyebrow duplication-syndactyly syndrome -MONDO:0009202 Thakker-Donnai syndrome Orphanet:1780 MONDO:equivalentTo Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thakker-donnai syndrome -MONDO:0009203 focal facial dermal dysplasia type III Orphanet:1807 MONDO:equivalentTo Focal facial dermal dysplasia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type iii -MONDO:0009204 lethal faciocardiomelic dysplasia Orphanet:1972 MONDO:equivalentTo Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal faciocardiomelic dysplasia -MONDO:0009205 faciocardiorenal syndrome Orphanet:1973 MONDO:equivalentTo Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label faciocardiorenal syndrome -MONDO:0009209 autosomal recessive faciodigitogenital syndrome Orphanet:1974 MONDO:equivalentTo Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive faciodigitogenital syndrome -MONDO:0009210 congenital factor V deficiency Orphanet:326 MONDO:equivalentTo Congenital factor V deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor v deficiency -MONDO:0009211 congenital factor VII deficiency Orphanet:327 MONDO:equivalentTo Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor vii deficiency -MONDO:0009212 congenital factor X deficiency Orphanet:328 MONDO:equivalentTo Congenital factor X deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor x deficiency -MONDO:0009221 femur-fibula-ulna complex Orphanet:2019 MONDO:equivalentTo Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femur-fibula-ulna complex -MONDO:0009222 Gollop-Wolfgang complex Orphanet:1986 MONDO:equivalentTo Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gollop-wolfgang complex -MONDO:0009224 fetal iodine syndrome Orphanet:1910 MONDO:equivalentTo Fetal iodine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal iodine syndrome -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome Orphanet:2025 MONDO:equivalentTo Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival fibromatosis-facial dysmorphism syndrome -MONDO:0009229 hyaline fibromatosis syndrome Orphanet:498474 MONDO:equivalentTo Hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyaline fibromatosis syndrome -MONDO:0009232 Fuhrmann syndrome Orphanet:2854 MONDO:equivalentTo Fuhrmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fuhrmann syndrome -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome Orphanet:2256 MONDO:equivalentTo Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibulo-ulnar hypoplasia-renal anomalies syndrome -MONDO:0009234 congenital high-molecular-weight kininogen deficiency Orphanet:483 MONDO:equivalentTo Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital high-molecular-weight kininogen deficiency -MONDO:0009235 familial benign flecked retina Orphanet:363989 MONDO:equivalentTo Familial benign flecked retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial benign flecked retina -MONDO:0009236 Kandori fleck retina Orphanet:99179 MONDO:equivalentTo Kandori fleck retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kandori fleck retina -MONDO:0009238 hereditary folate malabsorption Orphanet:90045 MONDO:equivalentTo Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary folate malabsorption -MONDO:0009240 formiminoglutamic aciduria Orphanet:51208 MONDO:equivalentTo Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label formiminoglutamic aciduria -MONDO:0009241 fountain syndrome Orphanet:3219 MONDO:equivalentTo Fountain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fountain syndrome -MONDO:0009242 brittle cornea syndrome Orphanet:90354 MONDO:equivalentTo Brittle cornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brittle cornea syndrome -MONDO:0009247 frontofacionasal dysplasia Orphanet:1791 MONDO:equivalentTo Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontofacionasal dysplasia -MONDO:0009249 hereditary fructose intolerance Orphanet:469 MONDO:equivalentTo Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary fructose intolerance -MONDO:0009251 fructose-1,6-bisphosphatase deficiency Orphanet:348 MONDO:equivalentTo Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fructose-1,6-bisphosphatase deficiency -MONDO:0009252 essential fructosuria Orphanet:2056 MONDO:equivalentTo Essential fructosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential fructosuria -MONDO:0009253 Fryns syndrome Orphanet:2059 MONDO:equivalentTo Fryns syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fryns syndrome -MONDO:0009254 fucosidosis Orphanet:349 MONDO:equivalentTo Fucosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fucosidosis -MONDO:0009255 galactokinase deficiency Orphanet:79237 MONDO:equivalentTo Galactokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactokinase deficiency -MONDO:0009257 galactose epimerase deficiency Orphanet:79238 MONDO:equivalentTo Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactose epimerase deficiency -MONDO:0009258 classic galactosemia Orphanet:79239 MONDO:equivalentTo Classic galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic galactosemia -MONDO:0009260 GM1 gangliosidosis type 1 Orphanet:79255 MONDO:equivalentTo GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 1 -MONDO:0009261 GM1 gangliosidosis type 2 Orphanet:79256 MONDO:equivalentTo GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 2 -MONDO:0009262 GM1 gangliosidosis type 3 Orphanet:79257 MONDO:equivalentTo GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis type 3 -MONDO:0009263 GAPO syndrome Orphanet:2067 MONDO:equivalentTo GAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gapo syndrome -MONDO:0009264 gastroschisis Orphanet:2368 MONDO:equivalentTo Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Orphanet:2072 MONDO:equivalentTo Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome -MONDO:0009271 geroderma osteodysplastica Orphanet:2078 MONDO:equivalentTo Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geroderma osteodysplastica -MONDO:0009272 German syndrome Orphanet:2077 MONDO:equivalentTo German syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label german syndrome -MONDO:0009274 ghosal hematodiaphyseal dysplasia Orphanet:1802 MONDO:equivalentTo Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ghosal hematodiaphyseal dysplasia -MONDO:0009275 neonatal hemochromatosis Orphanet:446 MONDO:equivalentTo Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal hemochromatosis -MONDO:0009276 Bernard-Soulier syndrome Orphanet:274 MONDO:equivalentTo Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bernard-soulier syndrome -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency Orphanet:25 MONDO:equivalentTo Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaryl-coa dehydrogenase deficiency -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency Orphanet:26791 MONDO:equivalentTo Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency -MONDO:0009283 glutaric acidemia type 3 Orphanet:35706 MONDO:equivalentTo Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutaric acidemia type 3 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria Orphanet:289849 MONDO:equivalentTo Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutathione synthetase deficiency without 5-oxoprolinuria -MONDO:0009285 gamma-glutamyl transpeptidase deficiency Orphanet:33573 MONDO:equivalentTo Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gamma-glutamyl transpeptidase deficiency -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA Orphanet:79258 MONDO:equivalentTo Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glucose-6-phosphatase deficiency type ia -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency Orphanet:367 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency -MONDO:0009297 familial renal glucosuria Orphanet:69076 MONDO:equivalentTo Familial renal glucosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial renal glucosuria -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome Orphanet:1770 MONDO:equivalentTo XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xy type gonadal dysgenesis-associated anomalies syndrome -MONDO:0009303 anti-glomerular basement membrane disease Orphanet:375 MONDO:equivalentTo Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-glomerular basement membrane disease -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency Orphanet:1979 MONDO:equivalentTo Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipodystrophy due to peptidic growth factors deficiency -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome Orphanet:2101 MONDO:equivalentTo Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grubben-de cock-borghgraef syndrome -MONDO:0009315 congenital factor XII deficiency Orphanet:330 MONDO:equivalentTo Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xii deficiency -MONDO:0009318 Hallermann-Streiff syndrome Orphanet:2108 MONDO:equivalentTo Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hallermann-streiff syndrome -MONDO:0009319 pantothenate kinase-associated neurodegeneration Orphanet:157850 MONDO:equivalentTo Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pantothenate kinase-associated neurodegeneration -MONDO:0009320 Hall-Riggs syndrome Orphanet:2107 MONDO:equivalentTo Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hall-riggs syndrome -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome Orphanet:2110 MONDO:equivalentTo Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hallux varus-preaxial polysyndactyly syndrome -MONDO:0009324 Hartnup disease Orphanet:2116 MONDO:equivalentTo Hartnup disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hartnup disease -MONDO:0009326 congenital heart block Orphanet:60041 MONDO:equivalentTo Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block -MONDO:0009331 isolated hemihyperplasia Orphanet:2128 MONDO:equivalentTo Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hemihyperplasia -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome Orphanet:79124 MONDO:equivalentTo Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease-immunodeficiency syndrome -MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency Orphanet:90031 MONDO:equivalentTo Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-spherocytic hemolytic anemia due to hexokinase deficiency -MONDO:0009341 Mowat-Wilson syndrome Orphanet:2152 MONDO:equivalentTo Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Orphanet:2153 MONDO:equivalentTo Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-nail hypoplasia-dysmorphism syndrome -MONDO:0009345 histidinemia Orphanet:2157 MONDO:equivalentTo Histidinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histidinemia -MONDO:0009348 classic Hodgkin lymphoma Orphanet:391 MONDO:equivalentTo Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic hodgkin lymphoma -MONDO:0009352 classic homocystinuria Orphanet:394 MONDO:equivalentTo Classic homocystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic homocystinuria -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency Orphanet:395 MONDO:equivalentTo Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homocystinuria due to methylene tetrahydrofolate reductase deficiency -MONDO:0009354 methylcobalamin deficiency type cblE Orphanet:2169 MONDO:equivalentTo Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cble -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Orphanet:500135 MONDO:equivalentTo Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome Orphanet:3035 MONDO:equivalentTo Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay-hydrocephaly-lung hypoplasia syndrome -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome Orphanet:2181 MONDO:equivalentTo Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephaly-tall stature-joint laxity syndrome -MONDO:0009367 McKusick-Kaufman syndrome Orphanet:2473 MONDO:equivalentTo McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mckusick-kaufman syndrome -MONDO:0009369 non-immune hydrops fetalis Orphanet:363999 MONDO:equivalentTo Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-immune hydrops fetalis -MONDO:0009370 L-2-hydroxyglutaric aciduria Orphanet:79314 MONDO:equivalentTo L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l-2-hydroxyglutaric aciduria -MONDO:0009371 3-hydroxyisobutyric aciduria Orphanet:939 MONDO:equivalentTo 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxyisobutyric aciduria -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome Orphanet:79156 MONDO:equivalentTo Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seizures-intellectual disability due to hydroxylysinuria syndrome -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency Orphanet:927 MONDO:equivalentTo Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperammonemia due to n-acetylglutamate synthase deficiency -MONDO:0009378 hyper-beta-alaninemia Orphanet:309147 MONDO:equivalentTo Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-beta-alaninemia -MONDO:0009379 Rotor syndrome Orphanet:3111 MONDO:equivalentTo Rotor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rotor syndrome -MONDO:0009380 Dubin-Johnson syndrome Orphanet:234 MONDO:equivalentTo Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dubin-johnson syndrome -MONDO:0009383 transient familial neonatal hyperbilirubinemia Orphanet:2312 MONDO:equivalentTo Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient familial neonatal hyperbilirubinemia -MONDO:0009387 familial lipoprotein lipase deficiency Orphanet:309015 MONDO:equivalentTo Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial lipoprotein lipase deficiency -MONDO:0009388 hyperlysinemia Orphanet:2203 MONDO:equivalentTo Hyperlysinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlysinemia -MONDO:0009394 juvenile Paget disease Orphanet:2801 MONDO:equivalentTo Juvenile Paget disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile paget disease -MONDO:0009395 hyperostosis corticalis generalisata Orphanet:3416 MONDO:equivalentTo Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperostosis corticalis generalisata -MONDO:0009397 neonatal severe primary hyperparathyroidism Orphanet:417 MONDO:equivalentTo Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal severe primary hyperparathyroidism -MONDO:0009400 hyperprolinemia type 1 Orphanet:419 MONDO:equivalentTo Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolinemia type 1 -MONDO:0009401 hyperprolinemia type 2 Orphanet:79101 MONDO:equivalentTo Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolinemia type 2 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome Orphanet:2218 MONDO:equivalentTo Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical hypertrichosis-peripheral neuropathy syndrome -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy Orphanet:293964 MONDO:equivalentTo Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoinsulinemic hypoglycemia and body hemihypertrophy -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome Orphanet:2410 MONDO:equivalentTo Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypergonadotropic hypogonadism-cataract syndrome -MONDO:0009419 Woodhouse-Sakati syndrome Orphanet:3464 MONDO:equivalentTo Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label woodhouse-sakati syndrome -MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome Orphanet:2232 MONDO:equivalentTo Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypergonadotropic hypogonadism-partial alopecia syndrome -MONDO:0009425 hypomandibular faciocranial dysostosis Orphanet:1790 MONDO:equivalentTo Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomandibular faciocranial dysostosis -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria Orphanet:157215 MONDO:equivalentTo Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypophosphatemic rickets with hypercalciuria -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome Orphanet:2261 MONDO:equivalentTo Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias-intellectual disability, goldblatt type syndrome -MONDO:0009437 Bamforth-Lazarus syndrome Orphanet:1226 MONDO:equivalentTo Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bamforth-lazarus syndrome -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Orphanet:2269 MONDO:equivalentTo Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Orphanet:2274 MONDO:equivalentTo Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Orphanet:2278 MONDO:equivalentTo Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-intellectual disability-dwarfism-renal impairment syndrome -MONDO:0009448 iminoglycinuria Orphanet:42062 MONDO:equivalentTo Iminoglycinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iminoglycinuria -MONDO:0009452 Vici syndrome Orphanet:1493 MONDO:equivalentTo Vici syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vici syndrome -MONDO:0009458 Schimke immuno-osseous dysplasia Orphanet:1830 MONDO:equivalentTo Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schimke immuno-osseous dysplasia -MONDO:0009465 multiple intestinal atresia Orphanet:2300 MONDO:equivalentTo Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple intestinal atresia -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 Orphanet:99960 MONDO:equivalentTo Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis type 1 -MONDO:0009473 isotretinoin-like syndrome Orphanet:2306 MONDO:equivalentTo Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isotretinoin-like syndrome -MONDO:0009475 isovaleric acidemia Orphanet:33 MONDO:equivalentTo Isovaleric acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isovaleric acidemia -MONDO:0009477 Stromme syndrome Orphanet:506307 MONDO:equivalentTo Stromme syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stromme syndrome -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency Orphanet:217390 MONDO:equivalentTo Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to dock8 deficiency -MONDO:0009479 Johanson-Blizzard syndrome Orphanet:2315 MONDO:equivalentTo Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label johanson-blizzard syndrome -MONDO:0009480 Joubert syndrome with oculorenal defect Orphanet:2318 MONDO:equivalentTo Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with oculorenal defect -MONDO:0009483 Kapur-Toriello syndrome Orphanet:2328 MONDO:equivalentTo Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kapur-toriello syndrome -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type Orphanet:2707 MONDO:equivalentTo Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebrofacial syndrome, kaufman type -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome Orphanet:93324 MONDO:equivalentTo Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive kenny-caffey syndrome -MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type Orphanet:86923 MONDO:equivalentTo Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary palmoplantar keratoderma, gamborg-nielsen type -MONDO:0009491 Haim-Munk syndrome Orphanet:2342 MONDO:equivalentTo Haim-Munk syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haim-munk syndrome -MONDO:0009493 Richards-Rundle syndrome Orphanet:1399 MONDO:equivalentTo Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richards-rundle syndrome -MONDO:0009495 Keutel syndrome Orphanet:85202 MONDO:equivalentTo Keutel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keutel syndrome -MONDO:0009498 lethal Kniest-like dysplasia Orphanet:2347 MONDO:equivalentTo Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal kniest-like dysplasia -MONDO:0009499 Krabbe disease Orphanet:487 MONDO:equivalentTo Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label krabbe disease -MONDO:0009501 metabolic myopathy due to lactate transporter defect Orphanet:171690 MONDO:equivalentTo Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic myopathy due to lactate transporter defect -MONDO:0009502 pyruvate dehydrogenase E2 deficiency Orphanet:79244 MONDO:equivalentTo Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e2 deficiency -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency Orphanet:255182 MONDO:equivalentTo Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009507 Lambert syndrome Orphanet:1296 MONDO:equivalentTo Lambert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lambert syndrome -MONDO:0009509 Landau-Kleffner syndrome Orphanet:98818 MONDO:equivalentTo Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label landau-kleffner syndrome -MONDO:0009511 Larsen-like syndrome, B3GAT3 type Orphanet:284139 MONDO:equivalentTo Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen-like syndrome, b3gat3 type -MONDO:0009512 lethal Larsen-like syndrome Orphanet:2371 MONDO:equivalentTo Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal larsen-like syndrome -MONDO:0009513 laryngo-onycho-cutaneous syndrome Orphanet:2407 MONDO:equivalentTo Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngo-onycho-cutaneous syndrome -MONDO:0009514 Laurence-Moon syndrome Orphanet:2377 MONDO:equivalentTo Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laurence-moon syndrome -MONDO:0009516 absence deformity of leg-cataract syndrome Orphanet:2310 MONDO:equivalentTo Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence deformity of leg-cataract syndrome -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria Orphanet:20 MONDO:equivalentTo 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxy-3-methylglutaric aciduria -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Orphanet:1816 MONDO:equivalentTo Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome -MONDO:0009523 Lichtenstein syndrome Orphanet:2390 MONDO:equivalentTo Lichtenstein syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichtenstein syndrome -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome Orphanet:1891 MONDO:equivalentTo Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-spasticity-ectrodactyly syndrome -MONDO:0009528 chylomicron retention disease Orphanet:71 MONDO:equivalentTo Chylomicron retention disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chylomicron retention disease -MONDO:0009529 pyruvate dehydrogenase E3 deficiency Orphanet:2394 MONDO:equivalentTo Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e3 deficiency -MONDO:0009530 lipoid proteinosis Orphanet:530 MONDO:equivalentTo Lipoid proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoid proteinosis -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome Orphanet:1563 MONDO:equivalentTo Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dahlberg-borer-newcomer syndrome -MONDO:0009537 lymphoid interstitial pneumonia Orphanet:79128 MONDO:equivalentTo Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid interstitial pneumonia -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome Orphanet:2083 MONDO:equivalentTo Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prominent glabella-microcephaly-hypogenitalism syndrome -MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome Orphanet:2432 MONDO:equivalentTo Macrosomia-microphthalmia-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrosomia-microphthalmia-cleft palate syndrome -MONDO:0009549 severe early-childhood-onset retinal dystrophy Orphanet:364055 MONDO:equivalentTo Severe early-childhood-onset retinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-childhood-onset retinal dystrophy -MONDO:0009552 mal de Meleda Orphanet:87503 MONDO:equivalentTo Mal de Meleda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mal de meleda -MONDO:0009556 malonic aciduria Orphanet:943 MONDO:equivalentTo Malonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malonic aciduria -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy Orphanet:90153 MONDO:equivalentTo Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia with type a lipodystrophy -MONDO:0009560 oculotrichoanal syndrome Orphanet:2717 MONDO:equivalentTo Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculotrichoanal syndrome -MONDO:0009561 alpha-mannosidosis Orphanet:61 MONDO:equivalentTo Alpha-mannosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis -MONDO:0009562 beta-mannosidosis Orphanet:118 MONDO:equivalentTo Beta-mannosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-mannosidosis -MONDO:0009563 maple syrup urine disease Orphanet:511 MONDO:equivalentTo Maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maple syrup urine disease -MONDO:0009564 Marden-Walker syndrome Orphanet:2461 MONDO:equivalentTo Marden-Walker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marden-walker syndrome -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome Orphanet:2172 MONDO:equivalentTo Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-glomerulonephritis-marfanoid habitus syndrome -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome Orphanet:2463 MONDO:equivalentTo Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfanoid habitus-autosomal recessive intellectual disability syndrome -MONDO:0009569 Hennekam-Beemer syndrome Orphanet:2135 MONDO:equivalentTo Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hennekam-beemer syndrome -MONDO:0009570 McDonough syndrome Orphanet:2471 MONDO:equivalentTo McDonough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mcdonough syndrome -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome Orphanet:49827 MONDO:equivalentTo Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiamine-responsive megaloblastic anemia syndrome -MONDO:0009577 megalocornea-intellectual disability syndrome Orphanet:2479 MONDO:equivalentTo Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea-intellectual disability syndrome -MONDO:0009578 neurocutaneous melanocytosis Orphanet:2481 MONDO:equivalentTo Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurocutaneous melanocytosis -MONDO:0009579 Frank-Ter Haar syndrome Orphanet:137834 MONDO:equivalentTo Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frank-ter haar syndrome -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Orphanet:3044 MONDO:equivalentTo Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome -MONDO:0009582 Mietens syndrome Orphanet:2557 MONDO:equivalentTo Mietens syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mietens syndrome -MONDO:0009584 intellectual disability, Buenos-Aires type Orphanet:3079 MONDO:equivalentTo Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability, buenos-aires type -MONDO:0009588 Langer mesomelic dysplasia Orphanet:2632 MONDO:equivalentTo Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langer mesomelic dysplasia -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome Orphanet:2631 MONDO:equivalentTo Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dwarfism-cleft palate-camptodactyly syndrome -MONDO:0009591 metachromatic leukodystrophy, juvenile form Orphanet:309263 MONDO:equivalentTo Metachromatic leukodystrophy, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, juvenile form -MONDO:0009592 metaphyseal acroscyphodysplasia Orphanet:1240 MONDO:equivalentTo Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal acroscyphodysplasia -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type Orphanet:93317 MONDO:equivalentTo Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, sedaghatian type -MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type Orphanet:166038 MONDO:equivalentTo Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, kaitila type -MONDO:0009595 cartilage-hair hypoplasia Orphanet:175 MONDO:equivalentTo Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cartilage-hair hypoplasia -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type Orphanet:2501 MONDO:equivalentTo Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondrodysplasia, spahr type -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Orphanet:2502 MONDO:equivalentTo Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysostosis-intellectual disability-conductive deafness syndrome -MONDO:0009609 methylcobalamin deficiency type cblG Orphanet:2170 MONDO:equivalentTo Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cblg -MONDO:0009610 3-methylglutaconic aciduria type 1 Orphanet:67046 MONDO:equivalentTo 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 1 -MONDO:0009611 3-methylglutaconic aciduria type 4 Orphanet:67048 MONDO:equivalentTo 3-methylglutaconic aciduria type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 4 -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Orphanet:308425 MONDO:equivalentTo Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency -MONDO:0009616 microcephalic primordial dwarfism, Toriello type Orphanet:2643 MONDO:equivalentTo Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism, toriello type -MONDO:0009618 microcephaly-cardiomyopathy syndrome Orphanet:2515 MONDO:equivalentTo Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cardiomyopathy syndrome -MONDO:0009619 microcephaly-micromelia syndrome Orphanet:572768 MONDO:equivalentTo Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-micromelia syndrome -MONDO:0009620 Say-Barber-Miller syndrome Orphanet:3132 MONDO:equivalentTo Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label say-barber-miller syndrome -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome Orphanet:2522 MONDO:equivalentTo Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cervical spine fusion anomalies syndrome -MONDO:0009622 Jawad syndrome Orphanet:313795 MONDO:equivalentTo Jawad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jawad syndrome -MONDO:0009623 Nijmegen breakage syndrome Orphanet:647 MONDO:equivalentTo Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nijmegen breakage syndrome -MONDO:0009627 Galloway-Mowat syndrome Orphanet:2065 MONDO:equivalentTo Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galloway-mowat syndrome -MONDO:0009635 microvillus inclusion disease Orphanet:2290 MONDO:equivalentTo Microvillus inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvillus inclusion disease -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Orphanet:308386 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type a -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Orphanet:308393 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type b -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome Orphanet:2400 MONDO:equivalentTo Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral motor neuropathy-dysautonomia syndrome -MONDO:0009650 mucolipidosis type II Orphanet:576 MONDO:equivalentTo Mucolipidosis type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis type ii -MONDO:0009653 mucolipidosis type IV Orphanet:578 MONDO:equivalentTo Mucolipidosis type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis type iv -MONDO:0009659 mucopolysaccharidosis type 4A Orphanet:309297 MONDO:equivalentTo Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4a -MONDO:0009660 mucopolysaccharidosis type 4B Orphanet:309310 MONDO:equivalentTo Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4b -MONDO:0009661 mucopolysaccharidosis type 6 Orphanet:583 MONDO:equivalentTo Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6 -MONDO:0009662 mucopolysaccharidosis type 7 Orphanet:584 MONDO:equivalentTo Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 7 -MONDO:0009664 mulibrey nanism Orphanet:2576 MONDO:equivalentTo Mulibrey nanism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mulibrey nanism -MONDO:0009665 biotinidase deficiency Orphanet:79241 MONDO:equivalentTo Biotinidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biotinidase deficiency -MONDO:0009666 holocarboxylase synthetase deficiency Orphanet:79242 MONDO:equivalentTo Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holocarboxylase synthetase deficiency -MONDO:0009668 lethal multiple pterygium syndrome Orphanet:33108 MONDO:equivalentTo Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal multiple pterygium syndrome -MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome Orphanet:3068 MONDO:equivalentTo Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-myopathy-short stature-endocrine defect syndrome -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Orphanet:1875 MONDO:equivalentTo Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy-infantile cataract-hypogonadism syndrome -MONDO:0009685 Miyoshi myopathy Orphanet:45448 MONDO:equivalentTo Miyoshi myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi myopathy -MONDO:0009688 myasthenia gravis Orphanet:589 MONDO:equivalentTo Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis -MONDO:0009692 primary myelofibrosis Orphanet:824 MONDO:equivalentTo Primary myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary myelofibrosis -MONDO:0009694 myeloperoxidase deficiency Orphanet:2587 MONDO:equivalentTo Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloperoxidase deficiency -MONDO:0009696 juvenile myoclonic epilepsy Orphanet:307 MONDO:equivalentTo Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myoclonic epilepsy -MONDO:0009697 Lafora disease Orphanet:501 MONDO:equivalentTo Lafora disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lafora disease -MONDO:0009699 action myoclonus-renal failure syndrome Orphanet:163696 MONDO:equivalentTo Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label action myoclonus-renal failure syndrome -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form Orphanet:228302 MONDO:equivalentTo Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, myopathic form -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency Orphanet:156 MONDO:equivalentTo Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase 1a deficiency -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency Orphanet:43115 MONDO:equivalentTo Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary myopathy with lactic acidosis due to iscu deficiency -MONDO:0009710 Thomsen and Becker disease Orphanet:614 MONDO:equivalentTo Thomsen and Becker disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thomsen and becker disease -MONDO:0009711 congenital fiber-type disproportion myopathy Orphanet:2020 MONDO:equivalentTo Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fiber-type disproportion myopathy -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia Orphanet:98905 MONDO:equivalentTo Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital multicore myopathy with external ophthalmoplegia -MONDO:0009714 myosclerosis Orphanet:289380 MONDO:equivalentTo Myosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myosclerosis -MONDO:0009716 Richieri Costa-da Silva syndrome Orphanet:3101 MONDO:equivalentTo Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richieri costa-da silva syndrome -MONDO:0009717 Schwartz-Jampel syndrome Orphanet:800 MONDO:equivalentTo Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schwartz-jampel syndrome -MONDO:0009719 familial atrial myxoma Orphanet:615 MONDO:equivalentTo Familial atrial myxoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atrial myxoma -MONDO:0009720 Keipert syndrome Orphanet:2662 MONDO:equivalentTo Keipert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keipert syndrome -MONDO:0009721 Nathalie syndrome Orphanet:2663 MONDO:equivalentTo Nathalie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nathalie syndrome -MONDO:0009723 Leigh syndrome Orphanet:506 MONDO:equivalentTo Leigh syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leigh syndrome -MONDO:0009724 nail-patella-like renal disease Orphanet:2613 MONDO:equivalentTo Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail-patella-like renal disease -MONDO:0009727 atelosteogenesis type II Orphanet:56304 MONDO:equivalentTo Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelosteogenesis type ii -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome Orphanet:2669 MONDO:equivalentTo Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrosis-deafness-urinary tract-digital malformations syndrome -MONDO:0009732 congenital nephrotic syndrome, Finnish type Orphanet:839 MONDO:equivalentTo Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital nephrotic syndrome, finnish type -MONDO:0009735 Netherton syndrome Orphanet:634 MONDO:equivalentTo Netherton syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label netherton syndrome -MONDO:0009737 galactosialidosis Orphanet:351 MONDO:equivalentTo Galactosialidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosialidosis -MONDO:0009738 sialidosis type 2 Orphanet:87876 MONDO:equivalentTo Sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis type 2 -MONDO:0009740 neurofaciodigitorenal syndrome Orphanet:2673 MONDO:equivalentTo Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofaciodigitorenal syndrome -MONDO:0009742 neuroectodermal melanolysosomal disease Orphanet:33445 MONDO:equivalentTo Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroectodermal melanolysosomal disease -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 Orphanet:642 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 4 -MONDO:0009764 ocular motor apraxia, Cogan type Orphanet:1125 MONDO:equivalentTo Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular motor apraxia, cogan type -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type Orphanet:2719 MONDO:equivalentTo Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocerebral hypopigmentation syndrome, cross type -MONDO:0009769 oculo-palato-cerebral syndrome Orphanet:2714 MONDO:equivalentTo Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculo-palato-cerebral syndrome -MONDO:0009771 oculotrichodysplasia Orphanet:2718 MONDO:equivalentTo Oculotrichodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculotrichodysplasia -MONDO:0009773 odonto-onycho-dermal dysplasia Orphanet:2721 MONDO:equivalentTo Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-onycho-dermal dysplasia -MONDO:0009774 cloacal exstrophy Orphanet:93929 MONDO:equivalentTo Cloacal exstrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloacal exstrophy -MONDO:0009777 Oliver syndrome Orphanet:2920 MONDO:equivalentTo Oliver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oliver syndrome -MONDO:0009779 autosomal recessive omodysplasia Orphanet:93329 MONDO:equivalentTo Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive omodysplasia -MONDO:0009780 lethal omphalocele-cleft palate syndrome Orphanet:2736 MONDO:equivalentTo Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal omphalocele-cleft palate syndrome -MONDO:0009785 opsismodysplasia Orphanet:2746 MONDO:equivalentTo Opsismodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opsismodysplasia -MONDO:0009787 3-methylglutaconic aciduria type 3 Orphanet:67047 MONDO:equivalentTo 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 3 -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome Orphanet:2272 MONDO:equivalentTo Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis-oral and digital anomalies syndrome -MONDO:0009801 familial osteodysplasia, Anderson type Orphanet:2769 MONDO:equivalentTo Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial osteodysplasia, anderson type -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Orphanet:2772 MONDO:equivalentTo Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital osteogenesis imperfecta-microcephaly-cataracts syndrome -MONDO:0009804 osteogenesis imperfecta type 3 Orphanet:216812 MONDO:equivalentTo Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 3 -MONDO:0009807 osteosarcoma Orphanet:668 MONDO:equivalentTo Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma -MONDO:0009810 autosomal recessive distal osteolysis syndrome Orphanet:2776 MONDO:equivalentTo Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive distal osteolysis syndrome -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome Orphanet:2324 MONDO:equivalentTo Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopenia-intellectual disability-sparse hair syndrome -MONDO:0009820 osteoporosis-pseudoglioma syndrome Orphanet:2788 MONDO:equivalentTo Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-pseudoglioma syndrome -MONDO:0009821 lethal osteosclerotic bone dysplasia Orphanet:1832 MONDO:equivalentTo Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal osteosclerotic bone dysplasia -MONDO:0009822 otoonychoperoneal syndrome Orphanet:2793 MONDO:equivalentTo Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otoonychoperoneal syndrome -MONDO:0009823 primary hyperoxaluria type 1 Orphanet:93598 MONDO:equivalentTo Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 1 -MONDO:0009824 primary hyperoxaluria type 2 Orphanet:93599 MONDO:equivalentTo Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 2 -MONDO:0009825 5-oxoprolinase deficiency Orphanet:33572 MONDO:equivalentTo 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5-oxoprolinase deficiency -MONDO:0009830 parkinsonian-pyramidal syndrome Orphanet:171695 MONDO:equivalentTo Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinsonian-pyramidal syndrome -MONDO:0009833 Shwachman-Diamond syndrome Orphanet:811 MONDO:equivalentTo Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shwachman-diamond syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome Orphanet:240085 MONDO:equivalentTo Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-parkinsonism syndrome -MONDO:0009841 PEHO syndrome Orphanet:2836 MONDO:equivalentTo PEHO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peho syndrome -MONDO:0009845 pelviscapular dysplasia Orphanet:93333 MONDO:equivalentTo Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelviscapular dysplasia -MONDO:0009846 pentosuria Orphanet:2843 MONDO:equivalentTo Pentosuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentosuria -MONDO:0009848 dissecting cellulitis of the scalp Orphanet:345 MONDO:equivalentTo Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissecting cellulitis of the scalp -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever Orphanet:343 MONDO:equivalentTo Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperimmunoglobulinemia d with periodic fever -MONDO:0009856 Peters plus syndrome Orphanet:709 MONDO:equivalentTo Peters plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peters plus syndrome -MONDO:0009858 Pfeiffer-Palm-Teller syndrome Orphanet:2871 MONDO:equivalentTo Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer-palm-teller syndrome -MONDO:0009859 PHAVER syndrome Orphanet:2876 MONDO:equivalentTo PHAVER syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phaver syndrome -MONDO:0009861 phenylketonuria Orphanet:716 MONDO:equivalentTo Phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phenylketonuria -MONDO:0009862 dihydropteridine reductase deficiency Orphanet:226 MONDO:equivalentTo Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropteridine reductase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency Orphanet:97234 MONDO:equivalentTo Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to phosphoglycerate mutase deficiency -MONDO:0009870 pili torti Orphanet:2889 MONDO:equivalentTo Pili torti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome Orphanet:2891 MONDO:equivalentTo Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti-developmental delay-neurological abnormalities syndrome -MONDO:0009873 pilodental dysplasia-refractive errors syndrome Orphanet:2892 MONDO:equivalentTo Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilodental dysplasia-refractive errors syndrome -MONDO:0009874 Rabson-Mendenhall syndrome Orphanet:769 MONDO:equivalentTo Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabson-mendenhall syndrome -MONDO:0009876 isolated growth hormone deficiency type IA Orphanet:231662 MONDO:equivalentTo Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ia -MONDO:0009877 Laron syndrome Orphanet:633 MONDO:equivalentTo Laron syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laron syndrome -MONDO:0009879 short stature due to growth hormone qualitative anomaly Orphanet:629 MONDO:equivalentTo Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to growth hormone qualitative anomaly -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome Orphanet:85442 MONDO:equivalentTo Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-pituitary and cerebellar defects-small sella turcica syndrome -MONDO:0009885 Scott syndrome Orphanet:806 MONDO:equivalentTo Scott syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scott syndrome -MONDO:0009887 desquamative interstitial pneumonia Orphanet:98852 MONDO:equivalentTo Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desquamative interstitial pneumonia -MONDO:0009889 autosomal recessive polycystic kidney disease Orphanet:731 MONDO:equivalentTo Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive polycystic kidney disease -MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome Orphanet:2916 MONDO:equivalentTo Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly-dental and vertebral anomalies syndrome -MONDO:0009897 adult polyglucosan body disease Orphanet:206583 MONDO:equivalentTo Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult polyglucosan body disease -MONDO:0009900 polysyndactyly-cardiac malformation syndrome Orphanet:2934 MONDO:equivalentTo Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polysyndactyly-cardiac malformation syndrome -MONDO:0009903 postaxial acrofacial dysostosis Orphanet:246 MONDO:equivalentTo Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial acrofacial dysostosis -MONDO:0009904 Gitelman syndrome Orphanet:358 MONDO:equivalentTo Gitelman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman syndrome -MONDO:0009905 urban-Rogers-Meyer syndrome Orphanet:3409 MONDO:equivalentTo Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urban-rogers-meyer syndrome -MONDO:0009910 Wiedemann-Rautenstrauch syndrome Orphanet:3455 MONDO:equivalentTo Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-rautenstrauch syndrome -MONDO:0009914 pseudodiastrophic dysplasia Orphanet:85174 MONDO:equivalentTo Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudodiastrophic dysplasia -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency Orphanet:2971 MONDO:equivalentTo Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal acyl-coa oxidase deficiency -MONDO:0009920 Acrootoocular syndrome Orphanet:2980 MONDO:equivalentTo Acrootoocular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrootoocular syndrome -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome Orphanet:2166 MONDO:equivalentTo Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-postaxial polydactyly syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome Orphanet:2990 MONDO:equivalentTo Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive multiple pterygium syndrome -MONDO:0009928 pulmonary alveolar microlithiasis Orphanet:60025 MONDO:equivalentTo Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary alveolar microlithiasis -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency Orphanet:217563 MONDO:equivalentTo Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal acute respiratory distress due to sp-b deficiency -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome Orphanet:1208 MONDO:equivalentTo Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary atresia-intact ventricular septum syndrome -MONDO:0009933 congenital pulmonary lymphangiectasia Orphanet:2414 MONDO:equivalentTo Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary lymphangiectasia -MONDO:0009937 pulmonary venoocclusive disease Orphanet:31837 MONDO:equivalentTo Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disease -MONDO:0009940 pycnodysostosis Orphanet:763 MONDO:equivalentTo Pycnodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycnodysostosis -MONDO:0009942 pyknoachondrogenesis Orphanet:3003 MONDO:equivalentTo Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyknoachondrogenesis -MONDO:0009943 Pyle disease Orphanet:3005 MONDO:equivalentTo Pyle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyle disease -MONDO:0009945 pyridoxine-dependent epilepsy Orphanet:3006 MONDO:equivalentTo Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxine-dependent epilepsy -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Orphanet:35120 MONDO:equivalentTo Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to pyrimidine 5' nucleotidase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria Orphanet:289846 MONDO:equivalentTo Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glutathione synthetase deficiency with 5-oxoprolinuria -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome Orphanet:3270 MONDO:equivalentTo Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis-developmental delay-hypotonia syndrome -MONDO:0009953 leukocyte adhesion deficiency type II Orphanet:99843 MONDO:equivalentTo Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type ii -MONDO:0009954 Ramon syndrome Orphanet:3019 MONDO:equivalentTo Ramon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ramon syndrome -MONDO:0009955 rapadilino syndrome Orphanet:3021 MONDO:equivalentTo RAPADILINO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapadilino syndrome -MONDO:0009963 Ulbright-Hodes syndrome Orphanet:3404 MONDO:equivalentTo Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulbright-hodes syndrome -MONDO:0009965 Perlman syndrome Orphanet:2849 MONDO:equivalentTo Perlman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perlman syndrome -MONDO:0009966 NPHP3-related Meckel-like syndrome Orphanet:3032 MONDO:equivalentTo NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nphp3-related meckel-like syndrome -MONDO:0009970 renal tubular dysgenesis of genetic origin Orphanet:97369 MONDO:equivalentTo Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis of genetic origin -MONDO:0009973 reticular dysgenesis Orphanet:33355 MONDO:equivalentTo Reticular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular dysgenesis -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome Orphanet:1574 MONDO:equivalentTo Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal degeneration-nanophthalmos-glaucoma syndrome -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium Orphanet:99002 MONDO:equivalentTo Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular dystrophy of the retinal pigment epithelium -MONDO:0009990 Revesz syndrome Orphanet:3088 MONDO:equivalentTo Revesz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label revesz syndrome -MONDO:0009993 embryonal rhabdomyosarcoma Orphanet:99757 MONDO:equivalentTo Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal rhabdomyosarcoma -MONDO:0009994 alveolar rhabdomyosarcoma Orphanet:99756 MONDO:equivalentTo Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alveolar rhabdomyosarcoma -MONDO:0009996 rhizomelic syndrome, Urbach type Orphanet:3098 MONDO:equivalentTo Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic syndrome, urbach type -MONDO:0009998 Richieri Costa-Pereira syndrome Orphanet:3102 MONDO:equivalentTo Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label richieri costa-pereira syndrome -MONDO:0009999 autosomal recessive Robinow syndrome Orphanet:1507 MONDO:equivalentTo Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive robinow syndrome -MONDO:0010001 ectodermal dysplasia-blindness syndrome Orphanet:1806 MONDO:equivalentTo Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia-blindness syndrome -MONDO:0010002 Rothmund-Thomson syndrome Orphanet:2909 MONDO:equivalentTo Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome -MONDO:0010004 EEC syndrome Orphanet:1896 MONDO:equivalentTo EEC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eec syndrome -MONDO:0010005 saccharopinuria Orphanet:3124 MONDO:equivalentTo Saccharopinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label saccharopinuria -MONDO:0010006 Sandhoff disease Orphanet:796 MONDO:equivalentTo Sandhoff disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome Orphanet:2511 MONDO:equivalentTo Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microbrachycephaly-ptosis-cleft lip syndrome -MONDO:0010008 sarcosinemia Orphanet:3129 MONDO:equivalentTo Sarcosinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcosinemia -MONDO:0010010 Schinzel-Giedion syndrome Orphanet:798 MONDO:equivalentTo Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schinzel-giedion syndrome -MONDO:0010011 schizencephaly Orphanet:799 MONDO:equivalentTo Schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizencephaly -MONDO:0010012 autoimmune polyendocrinopathy type 2 Orphanet:3143 MONDO:equivalentTo Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 2 -MONDO:0010013 schneckenbecken dysplasia Orphanet:3144 MONDO:equivalentTo Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schneckenbecken dysplasia -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type Orphanet:85184 MONDO:equivalentTo Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniometadiaphyseal dysplasia, wormian bone type -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency Orphanet:911 MONDO:equivalentTo Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to zap70 deficiency -MONDO:0010026 SHORT syndrome Orphanet:3163 MONDO:equivalentTo SHORT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short syndrome -MONDO:0010027 free sialic acid storage disease, infantile form Orphanet:309324 MONDO:equivalentTo Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label free sialic acid storage disease, infantile form -MONDO:0010028 sialuria Orphanet:3166 MONDO:equivalentTo Sialuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialuria -MONDO:0010033 generalized peeling skin syndrome Orphanet:263543 MONDO:equivalentTo Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized peeling skin syndrome -MONDO:0010035 Smith-Lemli-Opitz syndrome Orphanet:818 MONDO:equivalentTo Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-lemli-opitz syndrome -MONDO:0010038 growth delay due to insulin-like growth factor I resistance Orphanet:73273 MONDO:equivalentTo Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay due to insulin-like growth factor i resistance -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome Orphanet:1355 MONDO:equivalentTo Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart defect-round face-developmental delay syndrome -MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome Orphanet:2818 MONDO:equivalentTo Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-glaucoma-intellectual disability syndrome -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Orphanet:3011 MONDO:equivalentTo Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome Orphanet:1185 MONDO:equivalentTo Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia-dysmorphism syndrome -MONDO:0010064 spastic ataxia-corneal dystrophy syndrome Orphanet:2572 MONDO:equivalentTo Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia-corneal dystrophy syndrome -MONDO:0010066 familial isolated congenital asplenia Orphanet:101351 MONDO:equivalentTo Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated congenital asplenia -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type Orphanet:163665 MONDO:equivalentTo Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda, kohn type -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type Orphanet:93351 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, irapa type -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Orphanet:93358 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -MONDO:0010079 Canavan disease Orphanet:141 MONDO:equivalentTo Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label canavan disease -MONDO:0010080 familial infantile bilateral striatal necrosis Orphanet:225154 MONDO:equivalentTo Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial infantile bilateral striatal necrosis -MONDO:0010082 subaortic stenosis-short stature syndrome Orphanet:3191 MONDO:equivalentTo Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subaortic stenosis-short stature syndrome -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency Orphanet:22 MONDO:equivalentTo Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label succinic semialdehyde dehydrogenase deficiency -MONDO:0010085 Schilder disease Orphanet:59298 MONDO:equivalentTo Schilder disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schilder disease -MONDO:0010087 Sugarman brachydactyly Orphanet:498602 MONDO:equivalentTo Sugarman brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sugarman brachydactyly -MONDO:0010089 isolated sulfite oxidase deficiency Orphanet:99731 MONDO:equivalentTo Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sulfite oxidase deficiency -MONDO:0010090 Summitt syndrome Orphanet:3210 MONDO:equivalentTo Summitt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label summitt syndrome -MONDO:0010092 Filippi syndrome Orphanet:3255 MONDO:equivalentTo Filippi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filippi syndrome -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome Orphanet:1178 MONDO:equivalentTo Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-tapetoretinal degeneration syndrome -MONDO:0010100 Tay-Sachs disease Orphanet:845 MONDO:equivalentTo Tay-Sachs disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease -MONDO:0010101 Teebi-Shaltout syndrome Orphanet:3291 MONDO:equivalentTo Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label teebi-shaltout syndrome -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Orphanet:2972 MONDO:equivalentTo Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome -MONDO:0010110 tetraamelia-multiple malformations syndrome Orphanet:3301 MONDO:equivalentTo Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetraamelia-multiple malformations syndrome -MONDO:0010111 odontotrichomelic syndrome Orphanet:2723 MONDO:equivalentTo Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontotrichomelic syndrome -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome Orphanet:1861 MONDO:equivalentTo Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic dysplasia-hydrocephalus syndrome -MONDO:0010116 thoracomelic dysplasia Orphanet:1803 MONDO:equivalentTo Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracomelic dysplasia -MONDO:0010121 thrombocytopenia-absent radius syndrome Orphanet:3320 MONDO:equivalentTo Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia-absent radius syndrome -MONDO:0010122 congenital thrombotic thrombocytopenic purpura Orphanet:93583 MONDO:equivalentTo Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital thrombotic thrombocytopenic purpura -MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome Orphanet:2951 MONDO:equivalentTo Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent thumb-short stature-immunodeficiency syndrome -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome Orphanet:2489 MONDO:equivalentTo Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb defect-eye and ear abnormalities syndrome -MONDO:0010128 thyrocerebrorenal syndrome Orphanet:3327 MONDO:equivalentTo Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrocerebrorenal syndrome -MONDO:0010129 thymic-renal-anal-lung dysplasia Orphanet:3326 MONDO:equivalentTo Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic-renal-anal-lung dysplasia -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency Orphanet:1675 MONDO:equivalentTo Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dihydropyrimidine dehydrogenase deficiency -MONDO:0010132 familial thyroid dyshormonogenesis Orphanet:95716 MONDO:equivalentTo Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thyroid dyshormonogenesis -MONDO:0010134 Pendred syndrome Orphanet:705 MONDO:equivalentTo Pendred syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pendred syndrome -MONDO:0010139 isolated thyroid-stimulating hormone deficiency Orphanet:90674 MONDO:equivalentTo Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated thyroid-stimulating hormone deficiency -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency Orphanet:238670 MONDO:equivalentTo Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated thyrotropin-releasing hormone deficiency -MONDO:0010142 hypothyroidism due to TSH receptor mutations Orphanet:90673 MONDO:equivalentTo Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothyroidism due to tsh receptor mutations -MONDO:0010144 tibial hemimelia Orphanet:93322 MONDO:equivalentTo Tibial hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial hemimelia -MONDO:0010146 Kerion celsi Orphanet:499 MONDO:equivalentTo Kerion celsi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kerion celsi -MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome Orphanet:3363 MONDO:equivalentTo Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomegaly-retina pigmentary degeneration-dwarfism syndrome -MONDO:0010153 trichoodontoonychial dysplasia Orphanet:3355 MONDO:equivalentTo Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichoodontoonychial dysplasia -MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome Orphanet:3368 MONDO:equivalentTo Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-bifid nose-acral anomalies syndrome -MONDO:0010164 phocomelia, Schinzel type Orphanet:2879 MONDO:equivalentTo Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phocomelia, schinzel type -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome Orphanet:2249 MONDO:equivalentTo Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulna hypoplasia-intellectual disability syndrome -MONDO:0010167 urocanic aciduria Orphanet:210128 MONDO:equivalentTo Urocanic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urocanic aciduria -MONDO:0010168 Usher syndrome type 1 Orphanet:231169 MONDO:equivalentTo Usher syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 1 -MONDO:0010172 VACTERL with hydrocephalus Orphanet:3412 MONDO:equivalentTo VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vacterl with hydrocephalus -MONDO:0010176 orofaciodigital syndrome type 6 Orphanet:2754 MONDO:equivalentTo Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 6 -MONDO:0010179 isolated right ventricular hypoplasia Orphanet:439 MONDO:equivalentTo Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated right ventricular hypoplasia -MONDO:0010180 autosomal recessive spondylocostal dysostosis Orphanet:2311 MONDO:equivalentTo Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spondylocostal dysostosis -MONDO:0010181 oculogastrointestinal muscular dystrophy Orphanet:1876 MONDO:equivalentTo Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculogastrointestinal muscular dystrophy -MONDO:0010193 Weaver syndrome Orphanet:3447 MONDO:equivalentTo Weaver syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weaver syndrome -MONDO:0010196 Werner syndrome Orphanet:902 MONDO:equivalentTo Werner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label werner syndrome -MONDO:0010199 white forelock with malformations Orphanet:2475 MONDO:equivalentTo White forelock with malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white forelock with malformations -MONDO:0010200 Wilson disease Orphanet:905 MONDO:equivalentTo Wilson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson disease -MONDO:0010203 intellectual disability, Wolff type Orphanet:3080 MONDO:equivalentTo Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability, wolff type -MONDO:0010204 lysosomal acid lipase deficiency Orphanet:275761 MONDO:equivalentTo Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal acid lipase deficiency -MONDO:0010208 wrinkly skin syndrome Orphanet:2834 MONDO:equivalentTo Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wrinkly skin syndrome -MONDO:0010209 xanthinuria type I Orphanet:93601 MONDO:equivalentTo Xanthinuria type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthinuria type i -MONDO:0010220 Young syndrome Orphanet:3471 MONDO:equivalentTo Young syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label young syndrome -MONDO:0010221 CHIME syndrome Orphanet:3474 MONDO:equivalentTo CHIME syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chime syndrome -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome Orphanet:2508 MONDO:equivalentTo Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-abnormal genitalia syndrome -MONDO:0010225 Dent disease type 1 Orphanet:93622 MONDO:equivalentTo Dent disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease type 1 -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome Orphanet:3077 MONDO:equivalentTo X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-psychosis-macroorchidism syndrome -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome Orphanet:2898 MONDO:equivalentTo X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-plagiocephaly syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation Orphanet:2148 MONDO:equivalentTo Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 1 due to doublecortin gene mutation -MONDO:0010243 X-linked immunoneurologic disorder Orphanet:2571 MONDO:equivalentTo X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunoneurologic disorder -MONDO:0010247 X-linked cerebral adrenoleukodystrophy Orphanet:139396 MONDO:equivalentTo X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebral adrenoleukodystrophy -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia Orphanet:93349 MONDO:equivalentTo X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spondyloepimetaphyseal dysplasia -MONDO:0010258 MEHMO syndrome Orphanet:85282 MONDO:equivalentTo MEHMO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mehmo syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Orphanet:86818 MONDO:equivalentTo Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -MONDO:0010264 X-linked adrenal hypoplasia congenita Orphanet:95702 MONDO:equivalentTo X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked adrenal hypoplasia congenita -MONDO:0010268 X-linked lissencephaly with abnormal genitalia Orphanet:452 MONDO:equivalentTo X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lissencephaly with abnormal genitalia -MONDO:0010269 Coats disease Orphanet:190 MONDO:equivalentTo Coats disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coats disease -MONDO:0010270 syndromic X-linked intellectual disability 7 Orphanet:85274 MONDO:equivalentTo Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic x-linked intellectual disability 7 -MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome Orphanet:456328 MONDO:equivalentTo X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myotubular myopathy-abnormal genitalia syndrome -MONDO:0010278 Christianson syndrome Orphanet:85278 MONDO:equivalentTo Christianson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label christianson syndrome -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome Orphanet:88630 MONDO:equivalentTo Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label terminal osseous dysplasia-pigmentary defects syndrome -MONDO:0010288 adrenomyodystrophy Orphanet:977 MONDO:equivalentTo Adrenomyodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyodystrophy -MONDO:0010294 X-linked severe congenital neutropenia Orphanet:86788 MONDO:equivalentTo X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe congenital neutropenia -MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Orphanet:69088 MONDO:equivalentTo Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome -MONDO:0010298 Lesch-Nyhan syndrome Orphanet:510 MONDO:equivalentTo Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency Orphanet:79233 MONDO:equivalentTo Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoxanthine guanine phosphoribosyltransferase partial deficiency -MONDO:0010306 X-linked intellectual disability, Cabezas type Orphanet:85293 MONDO:equivalentTo X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cabezas type -MONDO:0010311 Becker muscular dystrophy Orphanet:98895 MONDO:equivalentTo Becker muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label becker muscular dystrophy -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency Orphanet:276 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to gamma chain deficiency -MONDO:0010323 Atkin-Flaitz syndrome Orphanet:1193 MONDO:equivalentTo Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atkin-flaitz syndrome -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type Orphanet:85288 MONDO:equivalentTo X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stocco dos santos type -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome Orphanet:231401 MONDO:equivalentTo Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-thalassemia-myelodysplastic syndrome -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome Orphanet:85280 MONDO:equivalentTo X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cubitus valgus-dysmorphism syndrome -MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Orphanet:52055 MONDO:equivalentTo Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Orphanet:369939 MONDO:equivalentTo Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome Orphanet:137831 MONDO:equivalentTo X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cerebellar hypoplasia syndrome -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 Orphanet:139557 MONDO:equivalentTo X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked distal spinal muscular atrophy type 3 -MONDO:0010354 Allan-Herndon-Dudley syndrome Orphanet:59 MONDO:equivalentTo Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allan-herndon-dudley syndrome -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis Orphanet:93606 MONDO:equivalentTo Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic syndrome of inappropriate antidiuresis -MONDO:0010359 Dent disease type 2 Orphanet:93623 MONDO:equivalentTo Dent disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease type 2 -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome Orphanet:85332 MONDO:equivalentTo X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-retinitis pigmentosa syndrome -MONDO:0010367 SHOX-related short stature Orphanet:314795 MONDO:equivalentTo SHOX-related short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shox-related short stature -MONDO:0010382 fragile X-associated tremor/ataxia syndrome Orphanet:93256 MONDO:equivalentTo Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fragile x-associated tremor/ataxia syndrome -MONDO:0010383 fragile X syndrome Orphanet:908 MONDO:equivalentTo Fragile X syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fragile x syndrome -MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency Orphanet:538934 MONDO:equivalentTo X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lymphoproliferative disease due to xiap deficiency -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Orphanet:319623 MONDO:equivalentTo X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency -MONDO:0010390 ocular albinism with late-onset sensorineural deafness Orphanet:1000 MONDO:equivalentTo Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism with late-onset sensorineural deafness -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency Orphanet:713 MONDO:equivalentTo Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to phosphoglycerate kinase 1 deficiency -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity Orphanet:3222 MONDO:equivalentTo Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phosphoribosylpyrophosphate synthetase superactivity -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly Orphanet:209370 MONDO:equivalentTo Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neonatal-onset encephalopathy with microcephaly -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy Orphanet:431272 MONDO:equivalentTo X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked scapuloperoneal muscular dystrophy -MONDO:0010401 X-linked myopathy with postural muscle atrophy Orphanet:178461 MONDO:equivalentTo X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myopathy with postural muscle atrophy -MONDO:0010404 X-linked non progressive cerebellar ataxia Orphanet:314978 MONDO:equivalentTo X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked non progressive cerebellar ataxia -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome Orphanet:140952 MONDO:equivalentTo Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-telecanthus-anogenital and renal malformations syndrome -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome Orphanet:163979 MONDO:equivalentTo X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-craniofacioskeletal syndrome -MONDO:0010420 X-linked erythropoietic protoporphyria Orphanet:443197 MONDO:equivalentTo X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked erythropoietic protoporphyria -MONDO:0010425 Lisch epithelial corneal dystrophy Orphanet:98955 MONDO:equivalentTo Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lisch epithelial corneal dystrophy -MONDO:0010426 X-linked endothelial corneal dystrophy Orphanet:293621 MONDO:equivalentTo X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked endothelial corneal dystrophy -MONDO:0010434 synovial sarcoma Orphanet:3273 MONDO:equivalentTo Synovial sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synovial sarcoma -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy Orphanet:238329 MONDO:equivalentTo Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe x-linked mitochondrial encephalomyopathy -MONDO:0010441 CK syndrome Orphanet:251383 MONDO:equivalentTo CK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ck syndrome -MONDO:0010446 X-linked cone dysfunction syndrome with myopia Orphanet:90001 MONDO:equivalentTo X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cone dysfunction syndrome with myopia -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Orphanet:280679 MONDO:equivalentTo Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome -MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Orphanet:317476 MONDO:equivalentTo X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia -MONDO:0010457 Ogden syndrome Orphanet:276432 MONDO:equivalentTo Ogden syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ogden syndrome -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type Orphanet:163966 MONDO:equivalentTo X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dominant chondrodysplasia, chassaing-lacombe type -MONDO:0010467 Xq27.3q28 duplication syndrome Orphanet:261483 MONDO:equivalentTo Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq27.3q28 duplication syndrome -MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Orphanet:324410 MONDO:equivalentTo X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome -MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement Orphanet:329235 MONDO:equivalentTo X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked central congenital hypothyroidism with late-onset testicular enlargement -MONDO:0010482 X-linked parkinsonism-spasticity syndrome Orphanet:363654 MONDO:equivalentTo X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked parkinsonism-spasticity syndrome -MONDO:0010483 X-linked intellectual disability, Cantagrel type Orphanet:85277 MONDO:equivalentTo X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cantagrel type -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome Orphanet:431140 MONDO:equivalentTo X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome Orphanet:457240 MONDO:equivalentTo X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-short stature-overweight syndrome -MONDO:0010498 MEND syndrome Orphanet:401973 MONDO:equivalentTo MEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mend syndrome -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome Orphanet:3041 MONDO:equivalentTo Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-balding-patella luxation-acromicria syndrome -MONDO:0010507 Xq25 microduplication syndrome Orphanet:521258 MONDO:equivalentTo Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq25 microduplication syndrome -MONDO:0010514 combined immunodeficiency due to moesin deficiency Orphanet:504530 MONDO:equivalentTo Combined immunodeficiency due to Moesin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to moesin deficiency -MONDO:0010518 Wiskott-Aldrich syndrome Orphanet:906 MONDO:equivalentTo Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome -MONDO:0010520 X-linked Alport syndrome Orphanet:88917 MONDO:equivalentTo X-linked Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked alport syndrome -MONDO:0010523 X-linked reticulate pigmentary disorder Orphanet:85453 MONDO:equivalentTo X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked reticulate pigmentary disorder -MONDO:0010526 Fabry disease Orphanet:324 MONDO:equivalentTo Fabry disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fabry disease -MONDO:0010529 X-linked spinocerebellar ataxia type 3 Orphanet:85297 MONDO:equivalentTo X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome Orphanet:1484 MONDO:equivalentTo Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures-ectodermal dysplasia-cleft lip/palate syndrome -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy Orphanet:1145 MONDO:equivalentTo Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset x-linked spinal muscular atrophy -MONDO:0010534 X-linked spinocerebellar ataxia type 4 Orphanet:85292 MONDO:equivalentTo X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome Orphanet:127 MONDO:equivalentTo Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010538 Mononen-Karnes-Senac syndrome Orphanet:2565 MONDO:equivalentTo Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononen-karnes-senac syndrome -MONDO:0010539 X-linked mandibulofacial dysostosis Orphanet:1131 MONDO:equivalentTo X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mandibulofacial dysostosis -MONDO:0010541 X-linked calvarial hyperostosis Orphanet:391327 MONDO:equivalentTo X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked calvarial hyperostosis -MONDO:0010543 Barth syndrome Orphanet:111 MONDO:equivalentTo Barth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label barth syndrome -MONDO:0010545 Nance-Horan syndrome Orphanet:627 MONDO:equivalentTo Nance-Horan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nance-horan syndrome -MONDO:0010547 X-linked progressive cerebellar ataxia Orphanet:1175 MONDO:equivalentTo X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked progressive cerebellar ataxia -MONDO:0010554 Abruzzo-Erickson syndrome Orphanet:921 MONDO:equivalentTo Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abruzzo-erickson syndrome -MONDO:0010557 choroideremia Orphanet:180 MONDO:equivalentTo Choroideremia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroideremia -MONDO:0010559 MASA syndrome Orphanet:2466 MONDO:equivalentTo MASA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label masa syndrome -MONDO:0010561 Coffin-Lowry syndrome Orphanet:192 MONDO:equivalentTo Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-lowry syndrome -MONDO:0010562 colonic atresia Orphanet:1198 MONDO:equivalentTo Colonic atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colonic atresia -MONDO:0010568 Aicardi syndrome Orphanet:50 MONDO:equivalentTo Aicardi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aicardi syndrome -MONDO:0010569 X-linked complicated corpus callosum dysgenesis Orphanet:1497 MONDO:equivalentTo X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked complicated corpus callosum dysgenesis -MONDO:0010571 otopalatodigital syndrome type 2 Orphanet:90652 MONDO:equivalentTo Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome type 2 -MONDO:0010572 occipital horn syndrome Orphanet:198 MONDO:equivalentTo Occipital horn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital horn syndrome -MONDO:0010575 deafness-hypogonadism syndrome Orphanet:90646 MONDO:equivalentTo Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-hypogonadism syndrome -MONDO:0010579 X-linked corneal dermoid Orphanet:1661 MONDO:equivalentTo X-linked corneal dermoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked corneal dermoid -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Orphanet:37042 MONDO:equivalentTo Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia Orphanet:181 MONDO:equivalentTo X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked hypohidrotic ectodermal dysplasia -MONDO:0010586 X-linked Ehlers-Danlos syndrome Orphanet:75497 MONDO:equivalentTo X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked ehlers-danlos syndrome -MONDO:0010591 fingerprint body myopathy Orphanet:97232 MONDO:equivalentTo Fingerprint body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fingerprint body myopathy -MONDO:0010592 focal dermal hypoplasia Orphanet:2092 MONDO:equivalentTo Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal dermal hypoplasia -MONDO:0010602 hemophilia A Orphanet:98878 MONDO:equivalentTo Hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia a -MONDO:0010604 hemophilia B Orphanet:98879 MONDO:equivalentTo Hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome Orphanet:1397 MONDO:equivalentTo Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephaly-cerebellar agenesis syndrome -MONDO:0010614 X-linked congenital generalized hypertrichosis Orphanet:79495 MONDO:equivalentTo X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked congenital generalized hypertrichosis -MONDO:0010615 isolated growth hormone deficiency type III Orphanet:231692 MONDO:equivalentTo Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type iii -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Orphanet:2234 MONDO:equivalentTo Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland Orphanet:2239 MONDO:equivalentTo Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hypoparathyroidism due to agenesis of parathyroid gland -MONDO:0010621 CHILD syndrome Orphanet:139 MONDO:equivalentTo CHILD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label child syndrome -MONDO:0010622 recessive X-linked ichthyosis Orphanet:461 MONDO:equivalentTo Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive x-linked ichthyosis -MONDO:0010631 incontinentia pigmenti Orphanet:464 MONDO:equivalentTo Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome Orphanet:2339 MONDO:equivalentTo Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis follicularis-dwarfism-cerebral atrophy syndrome -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome Orphanet:2375 MONDO:equivalentTo Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis-intellectual disability syndrome -MONDO:0010649 isolated congenital megalocornea Orphanet:91489 MONDO:equivalentTo Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital megalocornea -MONDO:0010650 Melnick-Needles syndrome Orphanet:2484 MONDO:equivalentTo Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melnick-needles syndrome -MONDO:0010651 Menkes disease Orphanet:565 MONDO:equivalentTo Menkes disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menkes disease -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome Orphanet:3052 MONDO:equivalentTo X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-seizures-psoriasis syndrome -MONDO:0010653 Renpenning syndrome Orphanet:3242 MONDO:equivalentTo Renpenning syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renpenning syndrome -MONDO:0010654 Partington syndrome Orphanet:94083 MONDO:equivalentTo Partington syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partington syndrome -MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX Orphanet:369962 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia with homocystinuria, type cblx -MONDO:0010659 FRAXE intellectual disability Orphanet:100973 MONDO:equivalentTo FRAXE intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraxe intellectual disability -MONDO:0010661 severe X-linked intellectual disability, Gustavson type Orphanet:3078 MONDO:equivalentTo Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe x-linked intellectual disability, gustavson type -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome Orphanet:2824 MONDO:equivalentTo Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraplegia-intellectual disability-hyperkeratosis syndrome -MONDO:0010665 Wilson-Turner syndrome Orphanet:3459 MONDO:equivalentTo Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-turner syndrome -MONDO:0010669 syndactyly type 8 Orphanet:2498 MONDO:equivalentTo Syndactyly type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 8 -MONDO:0010674 mucopolysaccharidosis type 2 Orphanet:580 MONDO:equivalentTo Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2 -MONDO:0010679 Duchenne muscular dystrophy Orphanet:98896 MONDO:equivalentTo Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duchenne muscular dystrophy -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy Orphanet:98863 MONDO:equivalentTo X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked emery-dreifuss muscular dystrophy -MONDO:0010683 X-linked centronuclear myopathy Orphanet:596 MONDO:equivalentTo X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked centronuclear myopathy -MONDO:0010684 X-linked myopathy with excessive autophagy Orphanet:25980 MONDO:equivalentTo X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked myopathy with excessive autophagy -MONDO:0010686 N syndrome Orphanet:2608 MONDO:equivalentTo N syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label n syndrome -MONDO:0010691 Norrie disease Orphanet:649 MONDO:equivalentTo Norrie disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label norrie disease -MONDO:0010704 otopalatodigital syndrome type 1 Orphanet:90650 MONDO:equivalentTo Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome type 1 -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome Orphanet:2379 MONDO:equivalentTo Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset parkinsonism-intellectual disability syndrome -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome Orphanet:2888 MONDO:equivalentTo Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierre robin syndrome-faciodigital anomaly syndrome -MONDO:0010711 TARP syndrome Orphanet:2886 MONDO:equivalentTo TARP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarp syndrome -MONDO:0010714 Pelizaeus-Merzbacher disease Orphanet:702 MONDO:equivalentTo Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease -MONDO:0010716 X-linked lethal multiple pterygium syndrome Orphanet:79447 MONDO:equivalentTo X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lethal multiple pterygium syndrome -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency Orphanet:79243 MONDO:equivalentTo Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010718 absent radius-anogenital anomalies syndrome Orphanet:3016 MONDO:equivalentTo Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent radius-anogenital anomalies syndrome -MONDO:0010720 partial androgen insensitivity syndrome Orphanet:90797 MONDO:equivalentTo Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial androgen insensitivity syndrome -MONDO:0010722 X-linked retinal dysplasia Orphanet:1852 MONDO:equivalentTo X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked retinal dysplasia -MONDO:0010725 X-linked retinoschisis Orphanet:792 MONDO:equivalentTo X-linked retinoschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked retinoschisis -MONDO:0010726 Rett syndrome Orphanet:778 MONDO:equivalentTo Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome -MONDO:0010728 SCARF syndrome Orphanet:3134 MONDO:equivalentTo SCARF syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarf syndrome -MONDO:0010729 X-linked intellectual disability, Schimke type Orphanet:85285 MONDO:equivalentTo X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, schimke type -MONDO:0010731 Simpson-Golabi-Behmel syndrome Orphanet:373 MONDO:equivalentTo Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simpson-golabi-behmel syndrome -MONDO:0010732 spastic paraparesis-deafness syndrome Orphanet:2815 MONDO:equivalentTo Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraparesis-deafness syndrome -MONDO:0010735 Kennedy disease Orphanet:481 MONDO:equivalentTo Kennedy disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kennedy disease -MONDO:0010738 spondylometaphyseal dysplasia, Golden type Orphanet:168544 MONDO:equivalentTo Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, golden type -MONDO:0010742 pentalogy of Cantrell Orphanet:1335 MONDO:equivalentTo Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentalogy of cantrell -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome Orphanet:231393 MONDO:equivalentTo Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia-x-linked thrombocytopenia syndrome -MONDO:0010747 X-linked dystonia-parkinsonism Orphanet:53351 MONDO:equivalentTo X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked dystonia-parkinsonism -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome Orphanet:3341 MONDO:equivalentTo Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torticollis-keloids-cryptorchidism-renal dysplasia syndrome -MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome Orphanet:3369 MONDO:equivalentTo Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-short stature-developmental delay syndrome -MONDO:0010750 ulnar hypoplasia-split foot syndrome Orphanet:1122 MONDO:equivalentTo Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar hypoplasia-split foot syndrome -MONDO:0010754 van den Bosch syndrome Orphanet:3417 MONDO:equivalentTo Van den Bosch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van den bosch syndrome -MONDO:0010759 Wildervanck syndrome Orphanet:3456 MONDO:equivalentTo Wildervanck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wildervanck syndrome -MONDO:0010765 46,XY complete gonadal dysgenesis Orphanet:242 MONDO:equivalentTo 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy complete gonadal dysgenesis -MONDO:0010768 gonadoblastoma Orphanet:206484 MONDO:equivalentTo Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma -MONDO:0010771 histiocytoid cardiomyopathy Orphanet:137675 MONDO:equivalentTo Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytoid cardiomyopathy -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency Orphanet:254864 MONDO:equivalentTo Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy with reversible cytochrome c oxidase deficiency -MONDO:0010785 maternally-inherited diabetes and deafness Orphanet:225 MONDO:equivalentTo Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternally-inherited diabetes and deafness -MONDO:0010786 chronic diarrhea with villous atrophy Orphanet:1670 MONDO:equivalentTo Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic diarrhea with villous atrophy -MONDO:0010787 Kearns-Sayre syndrome Orphanet:480 MONDO:equivalentTo Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kearns-sayre syndrome -MONDO:0010788 Leber hereditary optic neuropathy Orphanet:104 MONDO:equivalentTo Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy -MONDO:0010792 lethal infantile mitochondrial myopathy Orphanet:254857 MONDO:equivalentTo Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal infantile mitochondrial myopathy -MONDO:0010794 NARP syndrome Orphanet:644 MONDO:equivalentTo NARP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narp syndrome -MONDO:0010797 Pearson syndrome Orphanet:699 MONDO:equivalentTo Pearson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pearson syndrome -MONDO:0010801 spondylocamptodactyly syndrome Orphanet:3180 MONDO:equivalentTo Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylocamptodactyly syndrome -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Orphanet:2255 MONDO:equivalentTo Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic hypoplasia-diabetes-congenital heart disease syndrome -MONDO:0010803 Eiken syndrome Orphanet:79106 MONDO:equivalentTo Eiken syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eiken syndrome -MONDO:0010805 bladder exstrophy Orphanet:93930 MONDO:equivalentTo Bladder exstrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bladder exstrophy -MONDO:0010808 fatal familial insomnia Orphanet:466 MONDO:equivalentTo Fatal familial insomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal familial insomnia -MONDO:0010821 familial developmental dysphasia Orphanet:1799 MONDO:equivalentTo Familial developmental dysphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial developmental dysphasia -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 Orphanet:309803 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 3 -MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome Orphanet:1352 MONDO:equivalentTo Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular defect-blepharophimosis-radial and anal defect syndrome -MONDO:0010826 childhood absence epilepsy Orphanet:64280 MONDO:equivalentTo Childhood absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy -MONDO:0010831 familial caudal dysgenesis Orphanet:1768 MONDO:equivalentTo Familial caudal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial caudal dysgenesis -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome Orphanet:2988 MONDO:equivalentTo Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium colli-intellectual disability-digital anomalies syndrome -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome Orphanet:2798 MONDO:equivalentTo Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria-intellectual disability-epilepsy syndrome -MONDO:0010847 spinocerebellar ataxia type 4 Orphanet:98765 MONDO:equivalentTo Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 4 -MONDO:0010848 spinocerebellar ataxia type 5 Orphanet:98766 MONDO:equivalentTo Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 5 -MONDO:0010850 Tessier number 4 facial cleft Orphanet:141258 MONDO:equivalentTo Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 4 facial cleft -MONDO:0010851 Lowry-MacLean syndrome Orphanet:2409 MONDO:equivalentTo Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowry-maclean syndrome -MONDO:0010854 Toriello-Lacassie-Droste syndrome Orphanet:3339 MONDO:equivalentTo Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toriello-lacassie-droste syndrome -MONDO:0010855 short tarsus-absence of lower eyelashes syndrome Orphanet:2832 MONDO:equivalentTo Short tarsus-absence of lower eyelashes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short tarsus-absence of lower eyelashes syndrome -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Orphanet:88924 MONDO:equivalentTo Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis -MONDO:0010857 semantic dementia Orphanet:100069 MONDO:equivalentTo Semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome Orphanet:2429 MONDO:equivalentTo Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-spastic paraplegia-dysmorphism syndrome -MONDO:0010865 pseudoaminopterin syndrome Orphanet:221120 MONDO:equivalentTo Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoaminopterin syndrome -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia Orphanet:85179 MONDO:equivalentTo Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile osteopetrosis with neuroaxonal dysplasia -MONDO:0010867 PARC syndrome Orphanet:2825 MONDO:equivalentTo PARC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parc syndrome -MONDO:0010870 tibial muscular dystrophy Orphanet:609 MONDO:equivalentTo Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial muscular dystrophy -MONDO:0010879 CODAS syndrome Orphanet:1458 MONDO:equivalentTo CODAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label codas syndrome -MONDO:0010881 mesomelia-synostoses syndrome Orphanet:2496 MONDO:equivalentTo Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelia-synostoses syndrome -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome Orphanet:1113 MONDO:equivalentTo Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphalangy-syndactyly-microcephaly syndrome -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome Orphanet:2835 MONDO:equivalentTo Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum-macrocephaly-dysplastic nails syndrome -MONDO:0010886 2q37 microdeletion syndrome Orphanet:1001 MONDO:equivalentTo 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q37 microdeletion syndrome -MONDO:0010887 isolated anterior cervical hypertrichosis Orphanet:3387 MONDO:equivalentTo Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated anterior cervical hypertrichosis -MONDO:0010889 arterial dissection-lentiginosis syndrome Orphanet:1682 MONDO:equivalentTo Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial dissection-lentiginosis syndrome -MONDO:0010890 acrocardiofacial syndrome Orphanet:2008 MONDO:equivalentTo Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocardiofacial syndrome -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome Orphanet:1046 MONDO:equivalentTo Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal hemolytic anemia-genital anomalies syndrome -MONDO:0010898 autosomal dominant epilepsy with auditory features Orphanet:101046 MONDO:equivalentTo Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epilepsy with auditory features -MONDO:0010901 HEC syndrome Orphanet:2119 MONDO:equivalentTo HEC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hec syndrome -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type Orphanet:163662 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, reardon type -MONDO:0010908 loose anagen syndrome Orphanet:168 MONDO:equivalentTo Loose anagen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loose anagen syndrome -MONDO:0010913 Caroli disease Orphanet:53035 MONDO:equivalentTo Caroli disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli disease -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form Orphanet:228305 MONDO:equivalentTo Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, severe infantile form -MONDO:0010920 microtia Orphanet:83463 MONDO:equivalentTo Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia -MONDO:0010921 nasal dermoid cyst Orphanet:141103 MONDO:equivalentTo Nasal dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal dermoid cyst -MONDO:0010922 Satoyoshi syndrome Orphanet:3130 MONDO:equivalentTo Satoyoshi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label satoyoshi syndrome -MONDO:0010923 proximal myopathy with focal depletion of mitochondria Orphanet:521305 MONDO:equivalentTo Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal myopathy with focal depletion of mitochondria -MONDO:0010924 D-2-hydroxyglutaric aciduria Orphanet:79315 MONDO:equivalentTo D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d-2-hydroxyglutaric aciduria -MONDO:0010925 velo-facial-skeletal syndrome Orphanet:3424 MONDO:equivalentTo Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label velo-facial-skeletal syndrome -MONDO:0010930 anophthalmia plus syndrome Orphanet:1104 MONDO:equivalentTo Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia plus syndrome -MONDO:0010932 progressive bifocal chorioretinal atrophy Orphanet:75373 MONDO:equivalentTo Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive bifocal chorioretinal atrophy -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency Orphanet:35078 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to jak3 deficiency -MONDO:0010947 Budd-Chiari syndrome Orphanet:131 MONDO:equivalentTo Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome -MONDO:0010959 van den Ende-Gupta syndrome Orphanet:2460 MONDO:equivalentTo Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van den ende-gupta syndrome -MONDO:0010961 obesity due to prohormone convertase I deficiency Orphanet:71528 MONDO:equivalentTo Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to prohormone convertase i deficiency -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome Orphanet:2180 MONDO:equivalentTo Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome -MONDO:0010977 Brody myopathy Orphanet:53347 MONDO:equivalentTo Brody myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brody myopathy -MONDO:0010979 Timothy syndrome Orphanet:65283 MONDO:equivalentTo Timothy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome Orphanet:3328 MONDO:equivalentTo Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absent tibia-polydactyly-arachnoid cyst syndrome -MONDO:0010988 aplasia cutis-myopia syndrome Orphanet:1117 MONDO:equivalentTo Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplasia cutis-myopia syndrome -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Orphanet:2578 MONDO:equivalentTo Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-küster-hauser syndrome type 2 -MONDO:0010993 Harrod syndrome Orphanet:2115 MONDO:equivalentTo Harrod syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harrod syndrome -MONDO:0010995 Charcot-Marie-Tooth disease type 1C Orphanet:101083 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1c -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome Orphanet:3304 MONDO:equivalentTo Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fallot complex-intellectual disability-growth delay syndrome -MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome Orphanet:86822 MONDO:equivalentTo Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3-metacarpal bone dysplasia syndrome -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome Orphanet:2141 MONDO:equivalentTo Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic defect-limb deficiency-skull defect syndrome -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome Orphanet:2001 MONDO:equivalentTo Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-intestinal malrotation-cardiopathy syndrome -MONDO:0011010 Matthew-Wood syndrome Orphanet:2470 MONDO:equivalentTo Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label matthew-wood syndrome -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome Orphanet:1858 MONDO:equivalentTo Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal dysplasia-epilepsy-short stature syndrome -MONDO:0011014 pleuropulmonary blastoma Orphanet:64742 MONDO:equivalentTo Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma -MONDO:0011017 Naxos disease Orphanet:34217 MONDO:equivalentTo Naxos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label naxos disease -MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome Orphanet:2899 MONDO:equivalentTo Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia-amelogenesis imperfecta syndrome -MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Orphanet:1014 MONDO:equivalentTo Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome Orphanet:2786 MONDO:equivalentTo Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-oculocutaneous hypopigmentation syndrome -MONDO:0011022 Potocki-Shaffer syndrome Orphanet:52022 MONDO:equivalentTo Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label potocki-shaffer syndrome -MONDO:0011023 hereditary mixed polyposis syndrome Orphanet:157794 MONDO:equivalentTo Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary mixed polyposis syndrome -MONDO:0011034 odontomicronychial dysplasia Orphanet:1811 MONDO:equivalentTo Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontomicronychial dysplasia -MONDO:0011035 neurofibromatosis-Noonan syndrome Orphanet:638 MONDO:equivalentTo Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis-noonan syndrome -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome Orphanet:2941 MONDO:equivalentTo Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly-cerebellar hypoplasia-internal malformations syndrome -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Orphanet:1171 MONDO:equivalentTo Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type Orphanet:69083 MONDO:equivalentTo Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia with natal teeth, turnpenny type -MONDO:0011045 MMEP syndrome Orphanet:3434 MONDO:equivalentTo MMEP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mmep syndrome -MONDO:0011046 short stature, Brussels type Orphanet:2867 MONDO:equivalentTo Short stature, Brussels type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature, brussels type -MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome Orphanet:3218 MONDO:equivalentTo Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-epiphyseal dysplasia-short stature syndrome -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome Orphanet:1948 MONDO:equivalentTo Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy-microcephaly-skeletal dysplasia syndrome -MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome Orphanet:2516 MONDO:equivalentTo Microcephaly-cardiac defect-lung malsegmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cardiac defect-lung malsegmentation syndrome -MONDO:0011054 autosomal recessive amelia Orphanet:1027 MONDO:equivalentTo Autosomal recessive amelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive amelia -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome Orphanet:2163 MONDO:equivalentTo Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-craniosynostosis syndrome -MONDO:0011060 early-onset non-syndromic cataract Orphanet:91492 MONDO:equivalentTo Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset non-syndromic cataract -MONDO:0011062 aprosencephaly cerebellar dysgenesis Orphanet:1126 MONDO:equivalentTo Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly cerebellar dysgenesis -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type Orphanet:1808 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrotic ectodermal dysplasia, christianson-fourie type -MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 Orphanet:99955 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b1 -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type Orphanet:2831 MONDO:equivalentTo Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic dysplasia, patterson-lowry type -MONDO:0011080 progressive deafness with stapes fixation Orphanet:3235 MONDO:equivalentTo Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive deafness with stapes fixation -MONDO:0011081 dislocation of the hip-dysmorphism syndrome Orphanet:2412 MONDO:equivalentTo Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dislocation of the hip-dysmorphism syndrome -MONDO:0011082 oculoauriculofrontonasal syndrome Orphanet:398156 MONDO:equivalentTo Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculoauriculofrontonasal syndrome -MONDO:0011083 trichodental syndrome Orphanet:3351 MONDO:equivalentTo Trichodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodental syndrome -MONDO:0011085 Charcot-Marie-Tooth disease type 4D Orphanet:99950 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4d -MONDO:0011090 isolated hereditary congenital facial paralysis Orphanet:306527 MONDO:equivalentTo Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated hereditary congenital facial paralysis -MONDO:0011096 autosomal agammaglobulinemia Orphanet:33110 MONDO:equivalentTo Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal agammaglobulinemia -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Orphanet:412022 MONDO:equivalentTo Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type Orphanet:166016 MONDO:equivalentTo Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, lowry type -MONDO:0011113 Charcot-Marie-Tooth disease type 4C Orphanet:99949 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4c -MONDO:0011114 familial multiple trichoepithelioma Orphanet:867 MONDO:equivalentTo Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple trichoepithelioma -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome Orphanet:1120 MONDO:equivalentTo Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung agenesis-heart defect-thumb anomalies syndrome -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Orphanet:168451 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia-abnormal dentition syndrome -MONDO:0011128 Sheldon-hall syndrome Orphanet:1147 MONDO:equivalentTo Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sheldon-hall syndrome -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type Orphanet:3214 MONDO:equivalentTo Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deaf blind hypopigmentation syndrome, yemenite type -MONDO:0011134 Curry-Jones syndrome Orphanet:1553 MONDO:equivalentTo Curry-Jones syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label curry-jones syndrome -MONDO:0011136 Quebec platelet disorder Orphanet:220436 MONDO:equivalentTo Quebec platelet disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label quebec platelet disorder -MONDO:0011146 tetrasomy 12p Orphanet:884 MONDO:equivalentTo Tetrasomy 12p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 12p -MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome Orphanet:363665 MONDO:equivalentTo Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acroosteolysis-keloid-like lesions-premature aging syndrome -MONDO:0011154 acrofacial dysostosis, Palagonia type Orphanet:1787 MONDO:equivalentTo Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, palagonia type -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 Orphanet:79304 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 2 -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome Orphanet:86915 MONDO:equivalentTo Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-atrial septal defects-facial changes syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Orphanet:281201 MONDO:equivalentTo Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome Orphanet:69082 MONDO:equivalentTo Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-tricho-ungual-digito-palmar syndrome -MONDO:0011178 infantile convulsions and choreoathetosis Orphanet:31709 MONDO:equivalentTo Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile convulsions and choreoathetosis -MONDO:0011185 Thiel-Behnke corneal dystrophy Orphanet:98960 MONDO:equivalentTo Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiel-behnke corneal dystrophy -MONDO:0011197 hereditary thermosensitive neuropathy Orphanet:84093 MONDO:equivalentTo Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary thermosensitive neuropathy -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, missouri type -MONDO:0011202 RHYNS syndrome Orphanet:140976 MONDO:equivalentTo RHYNS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhyns syndrome -MONDO:0011208 malignant atrophic papulosis Orphanet:679 MONDO:equivalentTo Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant atrophic papulosis -MONDO:0011211 axial spondylometaphyseal dysplasia Orphanet:168549 MONDO:equivalentTo Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial spondylometaphyseal dysplasia -MONDO:0011213 Pierpont syndrome Orphanet:487825 MONDO:equivalentTo Pierpont syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierpont syndrome -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 Orphanet:79305 MONDO:equivalentTo Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis type 3 -MONDO:0011215 osteocraniostenosis Orphanet:2763 MONDO:equivalentTo Osteocraniostenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteocraniostenosis -MONDO:0011217 desmosterolosis Orphanet:35107 MONDO:equivalentTo Desmosterolosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmosterolosis -MONDO:0011219 Fried's tooth and nail syndrome Orphanet:99672 MONDO:equivalentTo Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fried's tooth and nail syndrome -MONDO:0011223 amyotrophic lateral sclerosis type 4 Orphanet:357043 MONDO:equivalentTo Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 4 -MONDO:0011224 monomelic amyotrophy Orphanet:65684 MONDO:equivalentTo Monomelic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomelic amyotrophy -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency Orphanet:275 MONDO:equivalentTo Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to dclre1c deficiency -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Orphanet:397623 MONDO:equivalentTo Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome -MONDO:0011229 ethylmalonic encephalopathy Orphanet:51188 MONDO:equivalentTo Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ethylmalonic encephalopathy -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome Orphanet:2840 MONDO:equivalentTo Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic dysplasia-arthrogryposis of lower limbs syndrome -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome Orphanet:468672 MONDO:equivalentTo Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous macrophthalmia-microcornea syndrome -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome Orphanet:60040 MONDO:equivalentTo Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-capillary malformation-polymicrogyria syndrome -MONDO:0011243 grange syndrome Orphanet:79094 MONDO:equivalentTo Grange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grange syndrome -MONDO:0011244 Marshall-Smith syndrome Orphanet:561 MONDO:equivalentTo Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marshall-smith syndrome -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type Orphanet:93352 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, shohat type -MONDO:0011253 craniomicromelic syndrome Orphanet:1524 MONDO:equivalentTo Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniomicromelic syndrome -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Orphanet:357158 MONDO:equivalentTo Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis-macroblepharon-macrostomia syndrome -MONDO:0011273 H syndrome Orphanet:168569 MONDO:equivalentTo H syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label h syndrome -MONDO:0011274 Muenke syndrome Orphanet:53271 MONDO:equivalentTo Muenke syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muenke syndrome -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome Orphanet:85199 MONDO:equivalentTo Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-anal anomalies-porokeratosis syndrome -MONDO:0011299 Huntington disease-like 1 Orphanet:157941 MONDO:equivalentTo Huntington disease-like 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 1 -MONDO:0011301 pseudohypoparathyroidism type 1B Orphanet:94089 MONDO:equivalentTo Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1b -MONDO:0011308 GRACILE syndrome Orphanet:53693 MONDO:equivalentTo GRACILE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gracile syndrome -MONDO:0011309 familial gestational hyperthyroidism Orphanet:99819 MONDO:equivalentTo Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gestational hyperthyroidism -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome Orphanet:3268 MONDO:equivalentTo Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radioulnar synostosis-microcephaly-scoliosis syndrome -MONDO:0011327 neuronal intranuclear inclusion disease Orphanet:2289 MONDO:equivalentTo Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disease -MONDO:0011330 spinocerebellar ataxia type 10 Orphanet:98761 MONDO:equivalentTo Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 10 -MONDO:0011331 congenital chylothorax Orphanet:264688 MONDO:equivalentTo Congenital chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax -MONDO:0011334 limb-mammary syndrome Orphanet:69085 MONDO:equivalentTo Limb-mammary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-mammary syndrome -MONDO:0011338 Omenn syndrome Orphanet:39041 MONDO:equivalentTo Omenn syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omenn syndrome -MONDO:0011340 congenital tracheal stenosis Orphanet:141127 MONDO:equivalentTo Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tracheal stenosis -MONDO:0011346 xanthinuria type II Orphanet:93602 MONDO:equivalentTo Xanthinuria type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthinuria type ii -MONDO:0011348 non-syndromic polydactyly Orphanet:2913 MONDO:equivalentTo Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic polydactyly -MONDO:0011381 dominant beta-thalassemia Orphanet:231226 MONDO:equivalentTo Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dominant beta-thalassemia -MONDO:0011382 sickle cell anemia Orphanet:232 MONDO:equivalentTo Sickle cell anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell anemia -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts Orphanet:2478 MONDO:equivalentTo Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa Orphanet:89843 MONDO:equivalentTo Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystrophic epidermolysis bullosa pruriginosa -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome Orphanet:48431 MONDO:equivalentTo Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataracts-facial dysmorphism-neuropathy syndrome -MONDO:0011405 poikiloderma with neutropenia Orphanet:221046 MONDO:equivalentTo Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poikiloderma with neutropenia -MONDO:0011411 Chudley-McCullough syndrome Orphanet:314597 MONDO:equivalentTo Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chudley-mccullough syndrome -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies Orphanet:85110 MONDO:equivalentTo Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial encephalopathy with neuroserpin inclusion bodies -MONDO:0011414 Peters anomaly Orphanet:708 MONDO:equivalentTo Peters anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peters anomaly -MONDO:0011420 short stature due to partial GHR deficiency Orphanet:314802 MONDO:equivalentTo Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to partial ghr deficiency -MONDO:0011422 autosomal recessive proximal renal tubular acidosis Orphanet:93607 MONDO:equivalentTo Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive proximal renal tubular acidosis -MONDO:0011424 Carney triad Orphanet:139411 MONDO:equivalentTo Carney triad semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney triad -MONDO:0011426 aceruloplasminemia Orphanet:48818 MONDO:equivalentTo Aceruloplasminemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aceruloplasminemia -MONDO:0011429 juvenile idiopathic arthritis Orphanet:92 MONDO:equivalentTo Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic arthritis -MONDO:0011430 pulverulent cataract Orphanet:98984 MONDO:equivalentTo Pulverulent cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulverulent cataract -MONDO:0011439 spinocerebellar ataxia type 12 Orphanet:98762 MONDO:equivalentTo Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 12 -MONDO:0011441 complex regional pain syndrome type 1 Orphanet:99995 MONDO:equivalentTo Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome type 1 -MONDO:0011448 PPARG-related familial partial lipodystrophy Orphanet:79083 MONDO:equivalentTo PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pparg-related familial partial lipodystrophy -MONDO:0011449 Salla disease Orphanet:309334 MONDO:equivalentTo Salla disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salla disease -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Orphanet:228190 MONDO:equivalentTo Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome -MONDO:0011457 ataxia-telangiectasia-like disorder Orphanet:251347 MONDO:equivalentTo Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-telangiectasia-like disorder -MONDO:0011464 spinocerebellar ataxia type 11 Orphanet:98767 MONDO:equivalentTo Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 11 -MONDO:0011466 distal myopathy, Welander type Orphanet:603 MONDO:equivalentTo Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy, welander type -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type Orphanet:90117 MONDO:equivalentTo Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy, okinawa type -MONDO:0011469 congenital amegakaryocytic thrombocytopenia Orphanet:3319 MONDO:equivalentTo Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital amegakaryocytic thrombocytopenia -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 Orphanet:99956 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b2 -MONDO:0011487 Huntington disease-like 3 Orphanet:157946 MONDO:equivalentTo Huntington disease-like 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 3 -MONDO:0011490 diffuse panbronchiolitis Orphanet:171700 MONDO:equivalentTo Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse panbronchiolitis -MONDO:0011493 Stickler syndrome type 2 Orphanet:90654 MONDO:equivalentTo Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Orphanet:93279 MONDO:equivalentTo Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis -MONDO:0011497 hereditary North American Indian childhood cirrhosis Orphanet:168583 MONDO:equivalentTo Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary north american indian childhood cirrhosis -MONDO:0011500 Becker nevus syndrome Orphanet:64755 MONDO:equivalentTo Becker nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label becker nevus syndrome -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Orphanet:166277 MONDO:equivalentTo Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia -MONDO:0011504 NDE1-related microhydranencephaly Orphanet:443162 MONDO:equivalentTo NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nde1-related microhydranencephaly -MONDO:0011506 familial infantile myoclonic epilepsy Orphanet:352582 MONDO:equivalentTo Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial infantile myoclonic epilepsy -MONDO:0011510 Bohring-Opitz syndrome Orphanet:97297 MONDO:equivalentTo Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bohring-opitz syndrome -MONDO:0011512 Brooke-Spiegler syndrome Orphanet:79493 MONDO:equivalentTo Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brooke-spiegler syndrome -MONDO:0011514 tricuspid atresia Orphanet:1209 MONDO:equivalentTo Tricuspid atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid atresia -MONDO:0011518 Wiedemann-Steiner syndrome Orphanet:319182 MONDO:equivalentTo Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-steiner syndrome -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease Orphanet:275523 MONDO:equivalentTo Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dianzani autoimmune lymphoproliferative disease -MONDO:0011527 Charcot-Marie-Tooth disease type 4E Orphanet:99951 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4e -MONDO:0011528 hyper-IgM syndrome type 2 Orphanet:101089 MONDO:equivalentTo Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 2 -MONDO:0011529 spinocerebellar ataxia type 13 Orphanet:98768 MONDO:equivalentTo Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 13 -MONDO:0011530 mesomelic dysplasia, Savarirayan type Orphanet:85170 MONDO:equivalentTo Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia, savarirayan type -MONDO:0011533 temtamy preaxial brachydactyly syndrome Orphanet:363417 MONDO:equivalentTo Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temtamy preaxial brachydactyly syndrome -MONDO:0011534 Charcot-Marie-Tooth disease type 4G Orphanet:99953 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4g -MONDO:0011540 spinocerebellar ataxia type 14 Orphanet:98763 MONDO:equivalentTo Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 14 -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Orphanet:71289 MONDO:equivalentTo Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 Orphanet:99961 MONDO:equivalentTo Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis type 2 -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 Orphanet:98856 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b1 -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 Orphanet:101101 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b2 -MONDO:0011575 cerebrooculonasal syndrome Orphanet:66625 MONDO:equivalentTo Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrooculonasal syndrome -MONDO:0011576 familial hyperaldosteronism type II Orphanet:404 MONDO:equivalentTo Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism type ii -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia Orphanet:97290 MONDO:equivalentTo Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial papillary thyroid carcinoma with renal papillary neoplasia -MONDO:0011579 late-onset retinal degeneration Orphanet:67042 MONDO:equivalentTo Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset retinal degeneration -MONDO:0011599 birdshot chorioretinopathy Orphanet:179 MONDO:equivalentTo Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label birdshot chorioretinopathy -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency Orphanet:247598 MONDO:equivalentTo Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal intrahepatic cholestasis due to citrin deficiency -MONDO:0011603 GNE myopathy Orphanet:602 MONDO:equivalentTo GNE myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gne myopathy -MONDO:0011604 spondylo-ocular syndrome Orphanet:85194 MONDO:equivalentTo Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylo-ocular syndrome -MONDO:0011605 generalized basaloid follicular hamartoma syndrome Orphanet:168632 MONDO:equivalentTo Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized basaloid follicular hamartoma syndrome -MONDO:0011610 dimethylglycine dehydrogenase deficiency Orphanet:243343 MONDO:equivalentTo Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dimethylglycine dehydrogenase deficiency -MONDO:0011612 glycine encephalopathy Orphanet:407 MONDO:equivalentTo Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Orphanet:35701 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase deficiency -MONDO:0011615 East Texas bleeding disorder Orphanet:391320 MONDO:equivalentTo East Texas bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label east texas bleeding disorder -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type Orphanet:85188 MONDO:equivalentTo Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal dysplasia, braun-tinschert type -MONDO:0011621 acropectoral syndrome Orphanet:85203 MONDO:equivalentTo Acropectoral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acropectoral syndrome -MONDO:0011624 transaldolase deficiency Orphanet:101028 MONDO:equivalentTo Transaldolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transaldolase deficiency -MONDO:0011628 propionic acidemia Orphanet:35 MONDO:equivalentTo Propionic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label propionic acidemia -MONDO:0011634 rippling muscle disease Orphanet:97238 MONDO:equivalentTo Rippling muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disease -MONDO:0011638 neuroferritinopathy Orphanet:157846 MONDO:equivalentTo Neuroferritinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroferritinopathy -MONDO:0011640 genitopatellar syndrome Orphanet:85201 MONDO:equivalentTo Genitopatellar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genitopatellar syndrome -MONDO:0011663 juvenile primary lateral sclerosis Orphanet:247604 MONDO:equivalentTo Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile primary lateral sclerosis -MONDO:0011664 immunodeficiency due to CD25 deficiency Orphanet:169100 MONDO:equivalentTo Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to cd25 deficiency -MONDO:0011669 hypotonia-cystinuria syndrome Orphanet:163690 MONDO:equivalentTo Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia-cystinuria syndrome -MONDO:0011671 Huntington disease-like 2 Orphanet:98934 MONDO:equivalentTo Huntington disease-like 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like 2 -MONDO:0011672 persistent polyclonal B-cell lymphocytosis Orphanet:300324 MONDO:equivalentTo Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent polyclonal b-cell lymphocytosis -MONDO:0011676 PHACE syndrome Orphanet:42775 MONDO:equivalentTo PHACE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phace syndrome -MONDO:0011681 episodic ataxia type 4 Orphanet:79136 MONDO:equivalentTo Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 4 -MONDO:0011682 episodic ataxia type 3 Orphanet:79135 MONDO:equivalentTo Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 3 -MONDO:0011683 oculocutaneous albinism type 4 Orphanet:79435 MONDO:equivalentTo Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 4 -MONDO:0011694 spinocerebellar ataxia type 15/16 Orphanet:98769 MONDO:equivalentTo Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 15/16 -MONDO:0011705 lymphangioleiomyomatosis Orphanet:538 MONDO:equivalentTo Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis -MONDO:0011706 Kufor-Rakeb syndrome Orphanet:306674 MONDO:equivalentTo Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kufor-rakeb syndrome -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome Orphanet:35878 MONDO:equivalentTo Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism-hyperammonemia syndrome -MONDO:0011719 gastrointestinal stromal tumor Orphanet:44890 MONDO:equivalentTo Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal stromal tumor -MONDO:0011721 distal myopathy with anterior tibial onset Orphanet:178400 MONDO:equivalentTo Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy with anterior tibial onset -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Orphanet:397973 MONDO:equivalentTo Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-obesity-prognathism-eye and skin anomalies syndrome -MONDO:0011723 hemifacial myohyperplasia Orphanet:141148 MONDO:equivalentTo Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemifacial myohyperplasia -MONDO:0011725 Crigler-Najjar syndrome type 2 Orphanet:79235 MONDO:equivalentTo Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome type 2 -MONDO:0011730 fumaric aciduria Orphanet:24 MONDO:equivalentTo Fumaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fumaric aciduria -MONDO:0011731 glucose-galactose malabsorption Orphanet:35710 MONDO:equivalentTo Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucose-galactose malabsorption -MONDO:0011732 familial digital arthropathy-brachydactyly Orphanet:85169 MONDO:equivalentTo Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial digital arthropathy-brachydactyly -MONDO:0011735 hyper-IgM syndrome type 3 Orphanet:101090 MONDO:equivalentTo Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 3 -MONDO:0011738 bilateral frontoparietal polymicrogyria Orphanet:101070 MONDO:equivalentTo Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontoparietal polymicrogyria -MONDO:0011740 Carney-Stratakis syndrome Orphanet:97286 MONDO:equivalentTo Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney-stratakis syndrome -MONDO:0011744 primary intraosseous venous malformation Orphanet:140436 MONDO:equivalentTo Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intraosseous venous malformation -MONDO:0011749 oculocutaneous albinism type 1B Orphanet:79434 MONDO:equivalentTo Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1b -MONDO:0011758 Hurler syndrome Orphanet:93473 MONDO:equivalentTo Hurler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler syndrome -MONDO:0011759 Hurler-Scheie syndrome Orphanet:93476 MONDO:equivalentTo Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hurler-scheie syndrome -MONDO:0011760 Scheie syndrome Orphanet:93474 MONDO:equivalentTo Scheie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scheie syndrome -MONDO:0011765 multiple epiphyseal dysplasia type 5 Orphanet:93311 MONDO:equivalentTo Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia type 5 -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Orphanet:168563 MONDO:equivalentTo 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome -MONDO:0011773 anauxetic dysplasia Orphanet:93347 MONDO:equivalentTo Anauxetic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anauxetic dysplasia -MONDO:0011776 CINCA syndrome Orphanet:1451 MONDO:equivalentTo CINCA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cinca syndrome -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type Orphanet:166024 MONDO:equivalentTo Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, al-gazali type -MONDO:0011781 spinocerebellar ataxia type 17 Orphanet:98759 MONDO:equivalentTo Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 17 -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome Orphanet:93267 MONDO:equivalentTo Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloverleaf skull-multiple congenital anomalies syndrome -MONDO:0011790 Amish lethal microcephaly Orphanet:99742 MONDO:equivalentTo Amish lethal microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amish lethal microcephaly -MONDO:0011795 anonychia-microcephaly syndrome Orphanet:1094 MONDO:equivalentTo Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia-microcephaly syndrome -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis Orphanet:293168 MONDO:equivalentTo Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset ascending hereditary spastic paralysis -MONDO:0011806 osteofibrous dysplasia Orphanet:488265 MONDO:equivalentTo Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteofibrous dysplasia -MONDO:0011810 horizontal gaze palsy with progressive scoliosis Orphanet:2744 MONDO:equivalentTo Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horizontal gaze palsy with progressive scoliosis -MONDO:0011816 lathosterolosis Orphanet:46059 MONDO:equivalentTo Lathosterolosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lathosterolosis -MONDO:0011818 isolated focal cortical dysplasia type II Orphanet:268994 MONDO:equivalentTo Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ii -MONDO:0011819 spinocerebellar ataxia type 19/22 Orphanet:98772 MONDO:equivalentTo Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 19/22 -MONDO:0011823 developmental malformations-deafness-dystonia syndrome Orphanet:79107 MONDO:equivalentTo Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental malformations-deafness-dystonia syndrome -MONDO:0011830 lissencephaly due to LIS1 mutation Orphanet:95232 MONDO:equivalentTo Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly due to lis1 mutation -MONDO:0011833 spinocerebellar ataxia type 21 Orphanet:98773 MONDO:equivalentTo Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 21 -MONDO:0011834 spinocerebellar ataxia type 18 Orphanet:98771 MONDO:equivalentTo Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 18 -MONDO:0011838 Bothnia retinal dystrophy Orphanet:85128 MONDO:equivalentTo Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bothnia retinal dystrophy -MONDO:0011855 granular corneal dystrophy type II Orphanet:98963 MONDO:equivalentTo Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granular corneal dystrophy type ii -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Orphanet:168552 MONDO:equivalentTo Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -MONDO:0011870 annular epidermolytic ichthyosis Orphanet:281139 MONDO:equivalentTo Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular epidermolytic ichthyosis -MONDO:0011872 Griscelli syndrome type 2 Orphanet:79477 MONDO:equivalentTo Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 2 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome Orphanet:59303 MONDO:equivalentTo Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal ichthyosis-sclerosing cholangitis syndrome -MONDO:0011876 juvenile absence epilepsy Orphanet:1941 MONDO:equivalentTo Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile absence epilepsy -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome Orphanet:293165 MONDO:equivalentTo Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin fragility-woolly hair-palmoplantar keratoderma syndrome -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Orphanet:307936 MONDO:equivalentTo Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome Orphanet:91500 MONDO:equivalentTo Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulointerstitial nephritis and uveitis syndrome -MONDO:0011890 Charcot-Marie-Tooth disease type 1D Orphanet:101084 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1d -MONDO:0011895 idiopathic hypereosinophilic syndrome Orphanet:3260 MONDO:equivalentTo Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypereosinophilic syndrome -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair Orphanet:2701 MONDO:equivalentTo Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome-like disorder with loose anagen hair -MONDO:0011902 Charcot-Marie-Tooth disease type 1F Orphanet:101085 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1f -MONDO:0011907 acrocapitofemoral dysplasia Orphanet:63446 MONDO:equivalentTo Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrocapitofemoral dysplasia -MONDO:0011908 juvenile myelomonocytic leukemia Orphanet:86834 MONDO:equivalentTo Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myelomonocytic leukemia -MONDO:0011911 craniolenticulosutural dysplasia Orphanet:50814 MONDO:equivalentTo Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniolenticulosutural dysplasia -MONDO:0011927 tufted angioma Orphanet:1063 MONDO:equivalentTo Tufted angioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tufted angioma -MONDO:0011928 caudal duplication Orphanet:1756 MONDO:equivalentTo Caudal duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal duplication -MONDO:0011934 dermatofibrosarcoma protuberans Orphanet:31112 MONDO:equivalentTo Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatofibrosarcoma protuberans -MONDO:0011936 microphthalmia with brain and digit anomalies Orphanet:139471 MONDO:equivalentTo Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia with brain and digit anomalies -MONDO:0011946 diaphanospondylodysostosis Orphanet:66637 MONDO:equivalentTo Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphanospondylodysostosis -MONDO:0011948 pontocerebellar hypoplasia type 3 Orphanet:97249 MONDO:equivalentTo Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 3 -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia Orphanet:284332 MONDO:equivalentTo Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset autosomal recessive nonprogressive cerebellar ataxia -MONDO:0011953 familial acute necrotizing encephalopathy Orphanet:88619 MONDO:equivalentTo Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial acute necrotizing encephalopathy -MONDO:0011957 retinal macular dystrophy type 2 Orphanet:319640 MONDO:equivalentTo Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal macular dystrophy type 2 -MONDO:0011959 sweet syndrome Orphanet:3243 MONDO:equivalentTo Sweet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sweet syndrome -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B Orphanet:139564 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 1b -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome Orphanet:163727 MONDO:equivalentTo Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome -MONDO:0011971 hyper-IgM syndrome type 5 Orphanet:101092 MONDO:equivalentTo Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 5 -MONDO:0011972 ovarian hyperstimulation syndrome Orphanet:64739 MONDO:equivalentTo Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian hyperstimulation syndrome -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome Orphanet:50811 MONDO:equivalentTo Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipodystrophy-intellectual disability-deafness syndrome -MONDO:0011977 8q22.1 microdeletion syndrome Orphanet:178303 MONDO:equivalentTo 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q22.1 microdeletion syndrome -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy Orphanet:99000 MONDO:equivalentTo Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset foveomacular vitelliform dystrophy -MONDO:0011984 synpolydactyly type 2 Orphanet:295197 MONDO:equivalentTo Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 2 -MONDO:0011985 hyper-IgM syndrome type 4 Orphanet:101091 MONDO:equivalentTo Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-igm syndrome type 4 -MONDO:0011986 tropical pancreatitis Orphanet:103918 MONDO:equivalentTo Tropical pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical pancreatitis -MONDO:0011988 neutrophil immunodeficiency syndrome Orphanet:183707 MONDO:equivalentTo Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutrophil immunodeficiency syndrome -MONDO:0011989 leishmaniasis Orphanet:507 MONDO:equivalentTo Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis -MONDO:0011998 autosomal dominant slowed nerve conduction velocity Orphanet:140481 MONDO:equivalentTo Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant slowed nerve conduction velocity -MONDO:0012008 Lelis syndrome Orphanet:140936 MONDO:equivalentTo Lelis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lelis syndrome -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type Orphanet:93283 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, kimberley type -MONDO:0012032 Braddock syndrome Orphanet:52047 MONDO:equivalentTo Braddock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label braddock syndrome -MONDO:0012033 bradyopsia Orphanet:75374 MONDO:equivalentTo Bradyopsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bradyopsia -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome Orphanet:52054 MONDO:equivalentTo Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-intracranial calcifications syndrome -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome Orphanet:2370 MONDO:equivalentTo Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label larsen-like osseous dysplasia-short stature syndrome -MONDO:0012061 familial sick sinus syndrome Orphanet:166282 MONDO:equivalentTo Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial sick sinus syndrome -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome Orphanet:52056 MONDO:equivalentTo Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar/fibula ray defect-brachydactyly syndrome -MONDO:0012073 ribose-5-P isomerase deficiency Orphanet:440706 MONDO:equivalentTo Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ribose-5-p isomerase deficiency -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy Orphanet:90154 MONDO:equivalentTo Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia with type b lipodystrophy -MONDO:0012075 oligodontia-cancer predisposition syndrome Orphanet:300576 MONDO:equivalentTo Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodontia-cancer predisposition syndrome -MONDO:0012081 15q11q13 microduplication syndrome Orphanet:238446 MONDO:equivalentTo 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q11q13 microduplication syndrome -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency Orphanet:35708 MONDO:equivalentTo Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatic l-amino acid decarboxylase deficiency -MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 Orphanet:64752 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 5 -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome Orphanet:364577 MONDO:equivalentTo Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-brachydactyly-pierre robin syndrome -MONDO:0012098 spinocerebellar ataxia type 20 Orphanet:101110 MONDO:equivalentTo Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 20 -MONDO:0012099 AICA-ribosiduria Orphanet:250977 MONDO:equivalentTo AICA-ribosiduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aica-ribosiduria -MONDO:0012103 spinocerebellar ataxia type 25 Orphanet:101111 MONDO:equivalentTo Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 25 -MONDO:0012104 acquired partial lipodystrophy Orphanet:79087 MONDO:equivalentTo Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired partial lipodystrophy -MONDO:0012105 granulomatosis with polyangiitis Orphanet:900 MONDO:equivalentTo Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatosis with polyangiitis -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type Orphanet:156728 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, matrilin-3 type -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency Orphanet:73272 MONDO:equivalentTo Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth delay due to insulin-like growth factor type 1 deficiency -MONDO:0012116 spinocerebellar ataxia type 8 Orphanet:98760 MONDO:equivalentTo Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 8 -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency Orphanet:79246 MONDO:equivalentTo Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase phosphatase deficiency -MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome Orphanet:168593 MONDO:equivalentTo Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sudden infant death-dysgenesis of the testes syndrome -MONDO:0012126 familial avascular necrosis of femoral head Orphanet:86820 MONDO:equivalentTo Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial avascular necrosis of femoral head -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form Orphanet:228308 MONDO:equivalentTo Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyl transferase ii deficiency, neonatal form -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin Orphanet:168577 MONDO:equivalentTo Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary cryohydrocytosis with reduced stomatin -MONDO:0012155 choanal atresia Orphanet:137914 MONDO:equivalentTo Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Orphanet:85167 MONDO:equivalentTo Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation Orphanet:169085 MONDO:equivalentTo Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susceptibility to respiratory infections associated with cd8alpha chain mutation -MONDO:0012164 Meacham syndrome Orphanet:3097 MONDO:equivalentTo Meacham syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meacham syndrome -MONDO:0012165 BNAR syndrome Orphanet:217266 MONDO:equivalentTo BNAR syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bnar syndrome -MONDO:0012172 mitochondrial trifunctional protein deficiency Orphanet:746 MONDO:equivalentTo Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:5 MONDO:equivalentTo Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long chain 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012176 Emanuel syndrome Orphanet:96170 MONDO:equivalentTo Emanuel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emanuel syndrome -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome Orphanet:88628 MONDO:equivalentTo Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior column ataxia-retinitis pigmentosa syndrome -MONDO:0012184 Pierson syndrome Orphanet:2670 MONDO:equivalentTo Pierson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pierson syndrome -MONDO:0012185 spondylometaphyseal dysplasia, A4 type Orphanet:168555 MONDO:equivalentTo Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia, a4 type -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Orphanet:137681 MONDO:equivalentTo Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Orphanet:65288 MONDO:equivalentTo Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome -MONDO:0012195 arthrogryposis-severe scoliosis syndrome Orphanet:65720 MONDO:equivalentTo Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-severe scoliosis syndrome -MONDO:0012197 idiopathic aplastic anemia Orphanet:88 MONDO:equivalentTo Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic aplastic anemia -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor Orphanet:424 MONDO:equivalentTo Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperthyroidism due to mutations in tsh receptor -MONDO:0012204 familial pseudohyperkalemia Orphanet:90044 MONDO:equivalentTo Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pseudohyperkalemia -MONDO:0012208 congenital reticular ichthyosiform erythroderma Orphanet:281190 MONDO:equivalentTo Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital reticular ichthyosiform erythroderma -MONDO:0012209 branchiogenic deafness syndrome Orphanet:50815 MONDO:equivalentTo Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiogenic deafness syndrome -MONDO:0012220 Griscelli syndrome type 3 Orphanet:79478 MONDO:equivalentTo Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome type 3 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 Orphanet:79279 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 1 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 Orphanet:79280 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 2 -MONDO:0012246 spinocerebellar ataxia type 26 Orphanet:101112 MONDO:equivalentTo Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 26 -MONDO:0012247 spinocerebellar ataxia type 27 Orphanet:98764 MONDO:equivalentTo Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 27 -MONDO:0012250 Charcot-Marie-Tooth disease type 4H Orphanet:99954 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4h -MONDO:0012251 MEDNIK syndrome Orphanet:171851 MONDO:equivalentTo MEDNIK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mednik syndrome -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Orphanet:166029 MONDO:equivalentTo Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, with severe proximal femoral dysplasia -MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses Orphanet:166032 MONDO:equivalentTo Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia, with miniepiphyses -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction Orphanet:157801 MONDO:equivalentTo Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesoaxial synostotic syndactyly with phalangeal reduction -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome Orphanet:79137 MONDO:equivalentTo Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized epilepsy-paroxysmal dyskinesia syndrome -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome Orphanet:66629 MONDO:equivalentTo Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goldberg-shprintzen megacolon syndrome -MONDO:0012290 CEDNIK syndrome Orphanet:66631 MONDO:equivalentTo CEDNIK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cednik syndrome -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form Orphanet:254875 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, myopathic form -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type Orphanet:168624 MONDO:equivalentTo Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial scaphocephaly syndrome, mcgillivray type -MONDO:0012308 Joubert syndrome with renal defect Orphanet:220497 MONDO:equivalentTo Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with renal defect -MONDO:0012316 Majeed syndrome Orphanet:77297 MONDO:equivalentTo Majeed syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label majeed syndrome -MONDO:0012330 talo-patello-scaphoid osteolysis Orphanet:50809 MONDO:equivalentTo Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label talo-patello-scaphoid osteolysis -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency Orphanet:71526 MONDO:equivalentTo Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to pro-opiomelanocortin deficiency -MONDO:0012342 7q11.23 microduplication syndrome Orphanet:96121 MONDO:equivalentTo 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7q11.23 microduplication syndrome -MONDO:0012345 acral peeling skin syndrome Orphanet:263534 MONDO:equivalentTo Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral peeling skin syndrome -MONDO:0012351 zygodactyly type 1 Orphanet:295187 MONDO:equivalentTo Zygodactyly type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency Orphanet:231154 MONDO:equivalentTo Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to partial rag1 deficiency -MONDO:0012381 hyperinsulinism due to INSR deficiency Orphanet:263458 MONDO:equivalentTo Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to insr deficiency -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Orphanet:75391 MONDO:equivalentTo Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome Orphanet:75325 MONDO:equivalentTo Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerosis-ichthyosis-premature ovarian failure syndrome -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency Orphanet:79157 MONDO:equivalentTo 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-methylbutyryl-coa dehydrogenase deficiency -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency Orphanet:71278 MONDO:equivalentTo Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital brain dysgenesis due to glutamine synthetase deficiency -MONDO:0012396 exercise-induced hyperinsulinism Orphanet:165991 MONDO:equivalentTo Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exercise-induced hyperinsulinism -MONDO:0012401 congenital stromal corneal dystrophy Orphanet:101068 MONDO:equivalentTo Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stromal corneal dystrophy -MONDO:0012407 pyridoxal phosphate-responsive seizures Orphanet:79096 MONDO:equivalentTo Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyridoxal phosphate-responsive seizures -MONDO:0012410 Finnish upper limb-onset distal myopathy Orphanet:399086 MONDO:equivalentTo Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label finnish upper limb-onset distal myopathy -MONDO:0012413 syndromic microphthalmia type 5 Orphanet:178364 MONDO:equivalentTo Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 -MONDO:0012417 heart-hand syndrome, Slovenian type Orphanet:168796 MONDO:equivalentTo Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome, slovenian type -MONDO:0012423 MORM syndrome Orphanet:75858 MONDO:equivalentTo MORM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morm syndrome -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation Orphanet:261629 MONDO:equivalentTo Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to a notch2 point mutation -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements Orphanet:168606 MONDO:equivalentTo Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seborrhea-like dermatitis with psoriasiform elements -MONDO:0012447 synpolydactyly type 3 Orphanet:295199 MONDO:equivalentTo Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label synpolydactyly type 3 -MONDO:0012449 spinocerebellar ataxia type 23 Orphanet:101108 MONDO:equivalentTo Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 23 -MONDO:0012450 spinocerebellar ataxia type 28 Orphanet:101109 MONDO:equivalentTo Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 28 -MONDO:0012455 Kleefstra syndrome Orphanet:261494 MONDO:equivalentTo Kleefstra syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome -MONDO:0012456 congenital primary aphakia Orphanet:83461 MONDO:equivalentTo Congenital primary aphakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary aphakia -MONDO:0012462 autosomal recessive frontotemporal pachygyria Orphanet:329329 MONDO:equivalentTo Autosomal recessive frontotemporal pachygyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive frontotemporal pachygyria -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Orphanet:83639 MONDO:equivalentTo Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency -MONDO:0012475 cone dystrophy with supernormal rod response Orphanet:209932 MONDO:equivalentTo Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cone dystrophy with supernormal rod response -MONDO:0012481 mevalonic aciduria Orphanet:29 MONDO:equivalentTo Mevalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonic aciduria -MONDO:0012496 Koolen-de Vries syndrome Orphanet:96169 MONDO:equivalentTo Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label koolen-de vries syndrome -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome Orphanet:85164 MONDO:equivalentTo Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly-tall stature-scoliosis-hearing loss syndrome -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Orphanet:83617 MONDO:equivalentTo Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome -MONDO:0012510 combined oxidative phosphorylation defect type 2 Orphanet:254920 MONDO:equivalentTo Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 2 -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Orphanet:168566 MONDO:equivalentTo Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome Orphanet:79113 MONDO:equivalentTo Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis-microcephaly syndrome -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Orphanet:353281 MONDO:equivalentTo Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to 16p13.3 microdeletion -MONDO:0012520 insulin-resistance syndrome type A Orphanet:2297 MONDO:equivalentTo Insulin-resistance syndrome type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin-resistance syndrome type a -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Orphanet:85112 MONDO:equivalentTo Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome -MONDO:0012534 combined oxidative phosphorylation defect type 4 Orphanet:254925 MONDO:equivalentTo Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 4 -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia Orphanet:90024 MONDO:equivalentTo Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness with labyrinthine aplasia, microtia, and microdontia -MONDO:0012545 neutral lipid storage myopathy Orphanet:98908 MONDO:equivalentTo Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutral lipid storage myopathy -MONDO:0012548 Kostmann syndrome Orphanet:99749 MONDO:equivalentTo Kostmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kostmann syndrome -MONDO:0012549 autosomal recessive ataxia, Beauce type Orphanet:88644 MONDO:equivalentTo Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia, beauce type -MONDO:0012552 multiple endocrine neoplasia type 4 Orphanet:276152 MONDO:equivalentTo Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 4 -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome Orphanet:91130 MONDO:equivalentTo Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy-hypotonia-lactic acidosis syndrome -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Orphanet:91135 MONDO:equivalentTo Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency -MONDO:0012579 autoimmune pulmonary alveolar proteinosis Orphanet:747 MONDO:equivalentTo Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pulmonary alveolar proteinosis -MONDO:0012580 hereditary pulmonary alveolar proteinosis Orphanet:264675 MONDO:equivalentTo Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary pulmonary alveolar proteinosis -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency Orphanet:440402 MONDO:equivalentTo Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease due to abca3 deficiency -MONDO:0012589 Pitt-Hopkins syndrome Orphanet:2896 MONDO:equivalentTo Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pitt-hopkins syndrome -MONDO:0012591 osteogenesis imperfecta type 5 Orphanet:216828 MONDO:equivalentTo Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta type 5 -MONDO:0012593 brain-lung-thyroid syndrome Orphanet:209905 MONDO:equivalentTo Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain-lung-thyroid syndrome -MONDO:0012621 deafness-infertility syndrome Orphanet:94064 MONDO:equivalentTo Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-infertility syndrome -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Orphanet:137898 MONDO:equivalentTo Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency Orphanet:99901 MONDO:equivalentTo Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acyl-coa dehydrogenase 9 deficiency -MONDO:0012638 microphthalmia-brain atrophy syndrome Orphanet:77299 MONDO:equivalentTo Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia-brain atrophy syndrome -MONDO:0012640 Charcot-Marie-Tooth disease type 4J Orphanet:139515 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4j -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency Orphanet:79159 MONDO:equivalentTo Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isobutyryl-coa dehydrogenase deficiency -MONDO:0012650 Cernunnos-XLF deficiency Orphanet:169079 MONDO:equivalentTo Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cernunnos-xlf deficiency -MONDO:0012658 brachydactyly type B2 Orphanet:140908 MONDO:equivalentTo Brachydactyly type B2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b2 -MONDO:0012669 Legius syndrome Orphanet:137605 MONDO:equivalentTo Legius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label legius syndrome -MONDO:0012675 corticosteroid-binding globulin deficiency Orphanet:199247 MONDO:equivalentTo Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticosteroid-binding globulin deficiency -MONDO:0012683 pontocerebellar hypoplasia type 6 Orphanet:166073 MONDO:equivalentTo Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 6 -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency Orphanet:137625 MONDO:equivalentTo Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to muscle and heart glycogen synthase deficiency -MONDO:0012703 lissencephaly due to TUBA1A mutation Orphanet:171680 MONDO:equivalentTo Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly due to tuba1a mutation -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy Orphanet:289377 MONDO:equivalentTo Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset myopathy with fatal cardiomyopathy -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia Orphanet:137908 MONDO:equivalentTo Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia with lactic acidemia and hyperammonemia -MONDO:0012721 progressive myoclonic epilepsy type 3 Orphanet:263516 MONDO:equivalentTo Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 3 -MONDO:0012725 lipoprotein glomerulopathy Orphanet:329481 MONDO:equivalentTo Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoprotein glomerulopathy -MONDO:0012733 autosomal recessive bestrophinopathy Orphanet:139455 MONDO:equivalentTo Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive bestrophinopathy -MONDO:0012734 SERKAL syndrome Orphanet:139466 MONDO:equivalentTo SERKAL syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serkal syndrome -MONDO:0012735 Temple-Baraitser syndrome Orphanet:420561 MONDO:equivalentTo Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temple-baraitser syndrome -MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome Orphanet:139450 MONDO:equivalentTo Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome -MONDO:0012747 glycogen storage disease due to aldolase A deficiency Orphanet:57 MONDO:equivalentTo Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to aldolase a deficiency -MONDO:0012755 episodic ataxia type 7 Orphanet:209970 MONDO:equivalentTo Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 7 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome Orphanet:261197 MONDO:equivalentTo Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal 16p11.2 microdeletion syndrome -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Orphanet:137631 MONDO:equivalentTo Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 Orphanet:488434 MONDO:equivalentTo Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly syndrome, guadalajara type 3 -MONDO:0012764 RIDDLE syndrome Orphanet:420741 MONDO:equivalentTo RIDDLE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label riddle syndrome -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency Orphanet:139485 MONDO:equivalentTo Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to ubiquinone deficiency -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome Orphanet:247794 MONDO:equivalentTo Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile cataract-microcornea-renal glucosuria syndrome -MONDO:0012789 dystonia 16 Orphanet:210571 MONDO:equivalentTo Dystonia 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia 16 -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Orphanet:1933 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria -MONDO:0012794 ANE syndrome Orphanet:157954 MONDO:equivalentTo ANE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ane syndrome -MONDO:0012815 Coats plus syndrome Orphanet:313838 MONDO:equivalentTo Coats plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coats plus syndrome -MONDO:0012825 extraskeletal myxoid chondrosarcoma Orphanet:209916 MONDO:equivalentTo Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraskeletal myxoid chondrosarcoma -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome Orphanet:93262 MONDO:equivalentTo Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crouzon syndrome-acanthosis nigricans syndrome -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome Orphanet:140963 MONDO:equivalentTo Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral microtia-deafness-cleft palate syndrome -MONDO:0012858 primary CD59 deficiency Orphanet:169464 MONDO:equivalentTo Primary CD59 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cd59 deficiency -MONDO:0012883 acute promyelocytic leukemia Orphanet:520 MONDO:equivalentTo Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute promyelocytic leukemia -MONDO:0012897 congenital factor XI deficiency Orphanet:329 MONDO:equivalentTo Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xi deficiency -MONDO:0012911 pseudohypoparathyroidism type 1C Orphanet:79444 MONDO:equivalentTo Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism type 1c -MONDO:0012912 pseudopseudohypoparathyroidism Orphanet:79445 MONDO:equivalentTo Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudopseudohypoparathyroidism -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Orphanet:331176 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency Orphanet:86817 MONDO:equivalentTo Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to adenylate kinase deficiency -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome Orphanet:199332 MONDO:equivalentTo Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocrine-cerebro-osteodysplasia syndrome -MONDO:0012982 episodic ataxia type 6 Orphanet:209967 MONDO:equivalentTo Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 6 -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria Orphanet:208441 MONDO:equivalentTo Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral parasagittal parieto-occipital polymicrogyria -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome Orphanet:199337 MONDO:equivalentTo Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic insufficiency-anemia-hyperostosis syndrome -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency Orphanet:70594 MONDO:equivalentTo Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dopa-responsive dystonia due to sepiapterin reductase deficiency -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome Orphanet:1415 MONDO:equivalentTo Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis-pigmentary retinopathy-cleft palate syndrome -MONDO:0012999 guanidinoacetate methyltransferase deficiency Orphanet:382 MONDO:equivalentTo Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guanidinoacetate methyltransferase deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency Orphanet:100924 MONDO:equivalentTo Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria due to ala dehydratase deficiency -MONDO:0013003 isolated congenital hypoglossia/aglossia Orphanet:141152 MONDO:equivalentTo Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypoglossia/aglossia -MONDO:0013005 EAST syndrome Orphanet:199343 MONDO:equivalentTo EAST syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label east syndrome -MONDO:0013006 isolated growth hormone deficiency type IB Orphanet:231671 MONDO:equivalentTo Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated growth hormone deficiency type ib -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency Orphanet:317428 MONDO:equivalentTo Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to orai1 deficiency -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency Orphanet:317430 MONDO:equivalentTo Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to stim1 deficiency -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type Orphanet:171866 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, aggrecan type -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis Orphanet:210115 MONDO:equivalentTo Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterile multifocal osteomyelitis with periostitis and pustulosis -MONDO:0013024 chronic thromboembolic pulmonary hypertension Orphanet:70591 MONDO:equivalentTo Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic thromboembolic pulmonary hypertension -MONDO:0013026 subepithelial mucinous corneal dystrophy Orphanet:98959 MONDO:equivalentTo Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subepithelial mucinous corneal dystrophy -MONDO:0013027 posterior amorphous corneal dystrophy Orphanet:98971 MONDO:equivalentTo Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior amorphous corneal dystrophy -MONDO:0013028 adenosine monophosphate deaminase deficiency Orphanet:45 MONDO:equivalentTo Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenosine monophosphate deaminase deficiency -MONDO:0013036 Zechi-Ceide syndrome Orphanet:217017 MONDO:equivalentTo Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zechi-ceide syndrome -MONDO:0013038 CLOVES syndrome Orphanet:140944 MONDO:equivalentTo CLOVES syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloves syndrome -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency Orphanet:99849 MONDO:equivalentTo Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to muscle beta-enolase deficiency -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Orphanet:284426 MONDO:equivalentTo Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase m-subunit deficiency -MONDO:0013050 lethal polymalformative syndrome, Boissel type Orphanet:210144 MONDO:equivalentTo Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal polymalformative syndrome, boissel type -MONDO:0013051 autosomal recessive cutis laxa type 2B Orphanet:357064 MONDO:equivalentTo Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2b -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Orphanet:217026 MONDO:equivalentTo Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type -MONDO:0013058 cystic leukoencephalopathy without megalencephaly Orphanet:85136 MONDO:equivalentTo Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic leukoencephalopathy without megalencephaly -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type Orphanet:227976 MONDO:equivalentTo Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive optic atrophy, opa7 type -MONDO:0013074 encephalocraniocutaneous lipomatosis Orphanet:2396 MONDO:equivalentTo Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalocraniocutaneous lipomatosis -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome Orphanet:2151 MONDO:equivalentTo Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-ganglioneuroblastoma syndrome -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency Orphanet:217382 MONDO:equivalentTo Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegenerative syndrome due to cerebral folate transport deficiency -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Orphanet:217371 MONDO:equivalentTo Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute infantile liver failure due to synthesis defect of mtdna-encoded proteins -MONDO:0013115 RIN2 syndrome Orphanet:217335 MONDO:equivalentTo RIN2 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rin2 syndrome -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Orphanet:330054 MONDO:equivalentTo Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome -MONDO:0013118 Nijmegen breakage syndrome-like disorder Orphanet:240760 MONDO:equivalentTo Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nijmegen breakage syndrome-like disorder -MONDO:0013125 CLAPO syndrome Orphanet:168984 MONDO:equivalentTo CLAPO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clapo syndrome -MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles Orphanet:217407 MONDO:equivalentTo Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hypotrichosis with recurrent skin vesicles -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Orphanet:217467 MONDO:equivalentTo Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency -MONDO:0013164 beta-ureidopropionase deficiency Orphanet:65287 MONDO:equivalentTo Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-ureidopropionase deficiency -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Orphanet:221145 MONDO:equivalentTo Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies -MONDO:0013171 purine nucleoside phosphorylase deficiency Orphanet:760 MONDO:equivalentTo Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purine nucleoside phosphorylase deficiency -MONDO:0013172 polymicrogyria with optic nerve hypoplasia Orphanet:250972 MONDO:equivalentTo Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymicrogyria with optic nerve hypoplasia -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation Orphanet:157973 MONDO:equivalentTo Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy due to lmna mutation -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency Orphanet:465 MONDO:equivalentTo Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital plasminogen activator inhibitor type 1 deficiency -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia Orphanet:228387 MONDO:equivalentTo Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylo-megaepiphyseal-metaphyseal dysplasia -MONDO:0013229 hot water reflex epilepsy Orphanet:166412 MONDO:equivalentTo Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hot water reflex epilepsy -MONDO:0013232 brachydactylous dwarfism, Mseleni type Orphanet:2619 MONDO:equivalentTo Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactylous dwarfism, mseleni type -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type Orphanet:99642 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, handigodu type -MONDO:0013241 spinocerebellar ataxia type 30 Orphanet:211017 MONDO:equivalentTo Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 30 -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency Orphanet:228426 MONDO:equivalentTo Syndromic multisystem autoimmune disease due to Itch deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic multisystem autoimmune disease due to itch deficiency -MONDO:0013252 Warsaw breakage syndrome Orphanet:280558 MONDO:equivalentTo Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warsaw breakage syndrome -MONDO:0013267 distal 16p11.2 microdeletion syndrome Orphanet:261222 MONDO:equivalentTo Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 16p11.2 microdeletion syndrome -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency Orphanet:712 MONDO:equivalentTo Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to glucophosphate isomerase deficiency -MONDO:0013276 Reynolds syndrome Orphanet:779 MONDO:equivalentTo Reynolds syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reynolds syndrome -MONDO:0013301 aromatase deficiency Orphanet:91 MONDO:equivalentTo Aromatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aromatase deficiency -MONDO:0013306 combined oxidative phosphorylation defect type 7 Orphanet:254930 MONDO:equivalentTo Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 7 -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Orphanet:95699 MONDO:equivalentTo Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency -MONDO:0013316 occult macular dystrophy Orphanet:247834 MONDO:equivalentTo Occult macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occult macular dystrophy -MONDO:0013317 torsade-de-pointes syndrome with short coupling interval Orphanet:51084 MONDO:equivalentTo Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label torsade-de-pointes syndrome with short coupling interval -MONDO:0013324 lymphedema-posterior choanal atresia syndrome Orphanet:99141 MONDO:equivalentTo Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphedema-posterior choanal atresia syndrome -MONDO:0013327 primary hyperoxaluria type 3 Orphanet:93600 MONDO:equivalentTo Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperoxaluria type 3 -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication Orphanet:238578 MONDO:equivalentTo Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to 17q23.1q23.2 microduplication -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Orphanet:402364 MONDO:equivalentTo Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly -MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome Orphanet:391372 MONDO:equivalentTo Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-severe speech delay-mild dysmorphism syndrome -MONDO:0013359 familial hyperaldosteronism type III Orphanet:251274 MONDO:equivalentTo Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism type iii -MONDO:0013360 brachyolmia, Maroteaux type Orphanet:93302 MONDO:equivalentTo Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia, maroteaux type -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Orphanet:363444 MONDO:equivalentTo THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Orphanet:353284 MONDO:equivalentTo Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome due to ep300 haploinsufficiency -MONDO:0013368 mammary-digital-nail syndrome Orphanet:238744 MONDO:equivalentTo Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mammary-digital-nail syndrome -MONDO:0013393 distal 7q11.23 microdeletion syndrome Orphanet:254351 MONDO:equivalentTo Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 7q11.23 microdeletion syndrome -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 MONDO:equivalentTo Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly-microcephaly-bilateral congenital cataract syndrome -MONDO:0013408 FADD-related immunodeficiency Orphanet:306550 MONDO:equivalentTo FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fadd-related immunodeficiency -MONDO:0013417 complement component 3 deficiency Orphanet:280133 MONDO:equivalentTo Complement component 3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complement component 3 deficiency -MONDO:0013423 immunodeficiency due to MASP-2 deficiency Orphanet:331187 MONDO:equivalentTo Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to masp-2 deficiency -MONDO:0013426 aneurysm-osteoarthritis syndrome Orphanet:284984 MONDO:equivalentTo Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysm-osteoarthritis syndrome -MONDO:0013433 primary sclerosing cholangitis Orphanet:171 MONDO:equivalentTo Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis -MONDO:0013452 multisystemic smooth muscle dysfunction syndrome Orphanet:404463 MONDO:equivalentTo Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multisystemic smooth muscle dysfunction syndrome -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease Orphanet:319651 MONDO:equivalentTo Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constitutional megaloblastic anemia with severe neurologic disease -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Orphanet:363694 MONDO:equivalentTo Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome -MONDO:0013464 episodic ataxia type 5 Orphanet:211067 MONDO:equivalentTo Episodic ataxia type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label episodic ataxia type 5 -MONDO:0013467 immunodeficiency due to ficolin3 deficiency Orphanet:331190 MONDO:equivalentTo Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to ficolin3 deficiency -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy Orphanet:280553 MONDO:equivalentTo Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal infantile hypertonic myofibrillar myopathy -MONDO:0013478 PLIN1-related familial partial lipodystrophy Orphanet:280356 MONDO:equivalentTo PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plin1-related familial partial lipodystrophy -MONDO:0013485 spinocerebellar ataxia type 35 Orphanet:276193 MONDO:equivalentTo Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 35 -MONDO:0013486 spinocerebellar ataxia type 32 Orphanet:276183 MONDO:equivalentTo Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 32 -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency Orphanet:169467 MONDO:equivalentTo Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent neisseria infections due to factor d deficiency -MONDO:0013512 hemoglobin H disease Orphanet:93616 MONDO:equivalentTo Hemoglobin H disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin h disease -MONDO:0013523 Nestor-Guillermo progeria syndrome Orphanet:280576 MONDO:equivalentTo Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nestor-guillermo progeria syndrome -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency Orphanet:220443 MONDO:equivalentTo Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bleeding diathesis due to thromboxane synthesis deficiency -MONDO:0013526 progressive myoclonic epilepsy type 6 Orphanet:280620 MONDO:equivalentTo Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 6 -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome Orphanet:79507 MONDO:equivalentTo Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotonia-failure to thrive-microcephaly syndrome -MONDO:0013540 deafness-lymphedema-leukemia syndrome Orphanet:3226 MONDO:equivalentTo Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-lymphedema-leukemia syndrome -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement Orphanet:63273 MONDO:equivalentTo Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy with posterior leg and anterior hand involvement -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type Orphanet:280586 MONDO:equivalentTo Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia with joint dislocations, gpapp type -MONDO:0013570 combined oxidative phosphorylation defect type 8 Orphanet:319504 MONDO:equivalentTo Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 8 -MONDO:0013572 Keppen-Lubinsky syndrome Orphanet:435628 MONDO:equivalentTo Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keppen-lubinsky syndrome -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency Orphanet:183675 MONDO:equivalentTo Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent infections associated with rare immunoglobulin isotypes deficiency -MONDO:0013578 DYRK1A-related intellectual disability syndrome Orphanet:464306 MONDO:equivalentTo DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyrk1a-related intellectual disability syndrome -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency Orphanet:255138 MONDO:equivalentTo Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase e1-beta deficiency -MONDO:0013583 occipital pachygyria and polymicrogyria Orphanet:280640 MONDO:equivalentTo Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital pachygyria and polymicrogyria -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome Orphanet:456318 MONDO:equivalentTo Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory neuropathy-deafness-dementia syndrome -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Orphanet:284435 MONDO:equivalentTo Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase h-subunit deficiency -MONDO:0013594 spinocerebellar ataxia type 36 Orphanet:276198 MONDO:equivalentTo Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 36 -MONDO:0013595 hyperbiliverdinemia Orphanet:276405 MONDO:equivalentTo Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbiliverdinemia -MONDO:0013607 monocytopenia with susceptibility to infections Orphanet:228423 MONDO:equivalentTo Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monocytopenia with susceptibility to infections -MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome Orphanet:293958 MONDO:equivalentTo Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertelorism-preauricular sinus-punctual pits-deafness syndrome -MONDO:0013640 familial retinal arterial macroaneurysm Orphanet:284247 MONDO:equivalentTo Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial retinal arterial macroaneurysm -MONDO:0013648 familial progressive hyperpigmentation Orphanet:79146 MONDO:equivalentTo Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive hyperpigmentation -MONDO:0013659 microcephaly-capillary malformation syndrome Orphanet:294016 MONDO:equivalentTo Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-capillary malformation syndrome -MONDO:0013661 combined malonic and methylmalonic acidemia Orphanet:289504 MONDO:equivalentTo Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined malonic and methylmalonic acidemia -MONDO:0013668 tetrasomy 18p Orphanet:3307 MONDO:equivalentTo Tetrasomy 18p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 18p -MONDO:0013673 Wolfram-like syndrome Orphanet:411590 MONDO:equivalentTo Wolfram-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolfram-like syndrome -MONDO:0013678 EDICT syndrome Orphanet:293936 MONDO:equivalentTo EDICT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label edict syndrome -MONDO:0013686 distal myopathy, Tateyama type Orphanet:488650 MONDO:equivalentTo Distal myopathy, Tateyama type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy, tateyama type -MONDO:0013688 linear and whorled nevoid hypermelanosis Orphanet:79150 MONDO:equivalentTo Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear and whorled nevoid hypermelanosis -MONDO:0013691 Feingold syndrome type 2 Orphanet:391646 MONDO:equivalentTo Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome type 2 -MONDO:0013692 BAP1-related tumor predisposition syndrome Orphanet:289539 MONDO:equivalentTo BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bap1-related tumor predisposition syndrome -MONDO:0013700 pancreatic triacylglycerol lipase deficiency Orphanet:309031 MONDO:equivalentTo Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic triacylglycerol lipase deficiency -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Orphanet:397744 MONDO:equivalentTo Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome -MONDO:0013730 graft versus host disease Orphanet:39812 MONDO:equivalentTo Graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label graft versus host disease -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Orphanet:329332 MONDO:equivalentTo Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome Orphanet:293925 MONDO:equivalentTo Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal occipital encephalocele-skeletal dysplasia syndrome -MONDO:0013755 PYCR1-related de Barsy syndrome Orphanet:293633 MONDO:equivalentTo PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycr1-related de barsy syndrome -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Orphanet:352333 MONDO:equivalentTo Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency Orphanet:293955 MONDO:equivalentTo Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood encephalopathy due to thiamine pyrophosphokinase deficiency -MONDO:0013762 lipoic acid synthetase deficiency Orphanet:401859 MONDO:equivalentTo Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoic acid synthetase deficiency -MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis Orphanet:300293 MONDO:equivalentTo Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient infantile hypertriglyceridemia and hepatosteatosis -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome Orphanet:300313 MONDO:equivalentTo Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-hearing loss-severe developmental delay syndrome -MONDO:0013775 thrombomodulin-related bleeding disorder Orphanet:436169 MONDO:equivalentTo Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombomodulin-related bleeding disorder -MONDO:0013777 pseudohypoaldosteronism type 2B Orphanet:88939 MONDO:equivalentTo Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2b -MONDO:0013778 pseudohypoaldosteronism type 2C Orphanet:88940 MONDO:equivalentTo Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2c -MONDO:0013781 pseudohypoaldosteronism type 2D Orphanet:300525 MONDO:equivalentTo Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2d -MONDO:0013782 pseudohypoaldosteronism type 2E Orphanet:300530 MONDO:equivalentTo Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2e -MONDO:0013802 infantile cerebellar-retinal degeneration Orphanet:313850 MONDO:equivalentTo Infantile cerebellar-retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile cerebellar-retinal degeneration -MONDO:0013803 leukoencephalopathy with calcifications and cysts Orphanet:542310 MONDO:equivalentTo Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with calcifications and cysts -MONDO:0013808 Maffucci syndrome Orphanet:163634 MONDO:equivalentTo Maffucci syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maffucci syndrome -MONDO:0013811 combined oxidative phosphorylation defect type 9 Orphanet:319509 MONDO:equivalentTo Combined oxidative phosphorylation defect type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 9 -MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness Orphanet:280406 MONDO:equivalentTo Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial steroid-resistant nephrotic syndrome with sensorineural deafness -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome Orphanet:254898 MONDO:equivalentTo Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-encephaloneuropathy-obesity-valvulopathy syndrome -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 Orphanet:314381 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 6 -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Orphanet:319678 MONDO:equivalentTo Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome -MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Orphanet:314376 MONDO:equivalentTo Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency -MONDO:0013851 autosomal dominant aplasia and myelodysplasia Orphanet:314399 MONDO:equivalentTo Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant aplasia and myelodysplasia -MONDO:0013858 pontine tegmental cap dysplasia Orphanet:269229 MONDO:equivalentTo Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontine tegmental cap dysplasia -MONDO:0013863 combined immunodeficiency due to LRBA deficiency Orphanet:445018 MONDO:equivalentTo Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to lrba deficiency -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Orphanet:314637 MONDO:equivalentTo Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency -MONDO:0013869 adenine phosphoribosyltransferase deficiency Orphanet:976 MONDO:equivalentTo Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenine phosphoribosyltransferase deficiency -MONDO:0013873 IMAGe syndrome Orphanet:85173 MONDO:equivalentTo IMAGe syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label image syndrome -MONDO:0013877 mitochondrial pyruvate carrier deficiency Orphanet:447784 MONDO:equivalentTo Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial pyruvate carrier deficiency -MONDO:0013885 Malan overgrowth syndrome Orphanet:420179 MONDO:equivalentTo Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malan overgrowth syndrome -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores Orphanet:319160 MONDO:equivalentTo Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with internal nuclei and atypical cores -MONDO:0013892 C3 glomerulonephritis Orphanet:329931 MONDO:equivalentTo C3 glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c3 glomerulonephritis -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Orphanet:314394 MONDO:equivalentTo Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome -MONDO:0013898 karyomegalic interstitial nephritis Orphanet:401996 MONDO:equivalentTo Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label karyomegalic interstitial nephritis -MONDO:0013907 bilateral generalized polymicrogyria Orphanet:208447 MONDO:equivalentTo Bilateral generalized polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral generalized polymicrogyria -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ Orphanet:369955 MONDO:equivalentTo Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylmalonic acidemia with homocystinuria, type cblj -MONDO:0013934 combined immunodeficiency due to STK4 deficiency Orphanet:314689 MONDO:equivalentTo Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to stk4 deficiency -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Orphanet:99646 MONDO:equivalentTo Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Orphanet:324530 MONDO:equivalentTo Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammation-plcg2-associated antibody deficiency-immune dysregulation -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Orphanet:319558 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Orphanet:319552 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Orphanet:319595 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Orphanet:319600 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency -MONDO:0013959 Charcot-Marie-Tooth disease type 4F Orphanet:99952 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4f -MONDO:0013960 sinoatrial node dysfunction and deafness Orphanet:324321 MONDO:equivalentTo Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinoatrial node dysfunction and deafness -MONDO:0013969 combined oxidative phosphorylation defect type 11 Orphanet:324535 MONDO:equivalentTo Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 11 -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Orphanet:314051 MONDO:equivalentTo Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome -MONDO:0013977 combined oxidative phosphorylation defect type 13 Orphanet:319514 MONDO:equivalentTo Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 13 -MONDO:0013986 combined oxidative phosphorylation defect type 14 Orphanet:319519 MONDO:equivalentTo Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 14 -MONDO:0013987 combined oxidative phosphorylation defect type 15 Orphanet:319524 MONDO:equivalentTo Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 15 -MONDO:0013990 pontocerebellar hypoplasia type 8 Orphanet:324569 MONDO:equivalentTo Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 8 -MONDO:0013991 obesity due to congenital leptin deficiency Orphanet:66628 MONDO:equivalentTo Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to congenital leptin deficiency -MONDO:0013992 obesity due to leptin receptor gene deficiency Orphanet:179494 MONDO:equivalentTo Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to leptin receptor gene deficiency -MONDO:0013993 pontocerebellar hypoplasia type 7 Orphanet:284339 MONDO:equivalentTo Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 7 -MONDO:0013996 focal facial dermal dysplasia type II Orphanet:398173 MONDO:equivalentTo Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type ii -MONDO:0013997 focal facial dermal dysplasia type IV Orphanet:398189 MONDO:equivalentTo Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia type iv -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:329903 MONDO:equivalentTo Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin-mediated membranoproliferative glomerulonephritis -MONDO:0014013 maternal riboflavin deficiency Orphanet:411712 MONDO:equivalentTo Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal riboflavin deficiency -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement Orphanet:391389 MONDO:equivalentTo Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome with predominantly upper body involvement -MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy Orphanet:329178 MONDO:equivalentTo Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with intellectual disability and severe epilepsy -MONDO:0014025 lower motor neuron syndrome with late-adult onset Orphanet:276435 MONDO:equivalentTo Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower motor neuron syndrome with late-adult onset -MONDO:0014028 distal arthrogryposis type 5D Orphanet:329457 MONDO:equivalentTo Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis type 5d -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Orphanet:363686 MONDO:equivalentTo Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome Orphanet:404473 MONDO:equivalentTo Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-progressive spastic diplegia syndrome -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency Orphanet:329228 MONDO:equivalentTo Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism due to znf335 deficiency -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome Orphanet:289553 MONDO:equivalentTo Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-conductive hearing loss-heart defect syndrome -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome Orphanet:352712 MONDO:equivalentTo Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-immunodeficiency-livedo-short stature syndrome -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect Orphanet:352718 MONDO:equivalentTo Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive retinal dystrophy due to retinol transport defect -MONDO:0014061 Steel syndrome Orphanet:438117 MONDO:equivalentTo Steel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steel syndrome -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome Orphanet:357175 MONDO:equivalentTo Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short ulna-dysmorphism-hypotonia-intellectual disability syndrome -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Orphanet:357332 MONDO:equivalentTo Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome -MONDO:0014070 oculocutaneous albinism type 7 Orphanet:352745 MONDO:equivalentTo Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 7 -MONDO:0014072 D,L-2-hydroxyglutaric aciduria Orphanet:356978 MONDO:equivalentTo D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label d,l-2-hydroxyglutaric aciduria -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement Orphanet:352682 MONDO:equivalentTo Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cobblestone lissencephaly without muscular or ocular involvement -MONDO:0014080 osteosclerotic metaphyseal dysplasia Orphanet:500548 MONDO:equivalentTo Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerotic metaphyseal dysplasia -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency Orphanet:357237 MONDO:equivalentTo Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to card11 deficiency -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Orphanet:352662 MONDO:equivalentTo Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts Orphanet:300298 MONDO:equivalentTo Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital hypochromic anemia with ringed sideroblasts -MONDO:0014097 congenital short bowel syndrome Orphanet:2301 MONDO:equivalentTo Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome -MONDO:0014098 CIDEC-related familial partial lipodystrophy Orphanet:435651 MONDO:equivalentTo CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cidec-related familial partial lipodystrophy -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity Orphanet:363412 MONDO:equivalentTo Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination with brain stem and spinal cord involvement and leg spasticity -MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 Orphanet:363981 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4b3 -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome Orphanet:369852 MONDO:equivalentTo Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neutropenia-myelofibrosis-nephromegaly syndrome -MONDO:0014119 intellectual disability-strabismus syndrome Orphanet:363528 MONDO:equivalentTo Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-strabismus syndrome -MONDO:0014127 oculocutaneous albinism type 5 Orphanet:370091 MONDO:equivalentTo Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 5 -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Orphanet:363523 MONDO:equivalentTo Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome -MONDO:0014148 estrogen resistance syndrome Orphanet:785 MONDO:equivalentTo Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label estrogen resistance syndrome -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome Orphanet:363409 MONDO:equivalentTo Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia-cerebral and retinal hemorrhage syndrome -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency Orphanet:397959 MONDO:equivalentTo TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tcr-alpha-beta-positive t-cell deficiency -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Orphanet:352563 MONDO:equivalentTo Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hypertrophic cardiomyopathy due to mrpl44 deficiency -MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency Orphanet:228003 MONDO:equivalentTo Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to coro1a deficiency -MONDO:0014190 combined oxidative phosphorylation defect type 17 Orphanet:369913 MONDO:equivalentTo Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 17 -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency Orphanet:397964 MONDO:equivalentTo Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to malt1 deficiency -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Orphanet:440427 MONDO:equivalentTo Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset pulmonary alveolar proteinosis due to mars deficiency -MONDO:0014208 Charcot-Marie-Tooth disease type 2R Orphanet:397968 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2r -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Orphanet:352654 MONDO:equivalentTo Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Orphanet:308400 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency type c -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome Orphanet:369992 MONDO:equivalentTo Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe dermatitis-multiple allergies-metabolic wasting syndrome -MONDO:0014224 developmental delay with autism spectrum disorder and gait instability Orphanet:329195 MONDO:equivalentTo Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay with autism spectrum disorder and gait instability -MONDO:0014226 idiopathic CD4 lymphocytopenia Orphanet:228000 MONDO:equivalentTo Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic cd4 lymphocytopenia -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome Orphanet:324561 MONDO:equivalentTo Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopigmentation-punctate palmoplantar keratoderma syndrome -MONDO:0014234 reticulate acropigmentation of Kitamura Orphanet:178307 MONDO:equivalentTo Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticulate acropigmentation of kitamura -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Orphanet:391307 MONDO:equivalentTo Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 Orphanet:391397 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 7 -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement Orphanet:391392 MONDO:equivalentTo Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome with predominantly lower limb involvement -MONDO:0014250 familial hyperprolactinemia Orphanet:397685 MONDO:equivalentTo Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperprolactinemia -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Orphanet:391348 MONDO:equivalentTo Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome -MONDO:0014263 8q24.3 microdeletion syndrome Orphanet:508488 MONDO:equivalentTo 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q24.3 microdeletion syndrome -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency Orphanet:397787 MONDO:equivalentTo Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to ikk2 deficiency -MONDO:0014268 combined immunodeficiency due to OX40 deficiency Orphanet:431149 MONDO:equivalentTo Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to ox40 deficiency -MONDO:0014272 palmoplantar keratoderma, Nagashima type Orphanet:140966 MONDO:equivalentTo Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma, nagashima type -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome Orphanet:397951 MONDO:equivalentTo Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-thin corpus callosum-intellectual disability syndrome -MONDO:0014274 L-ferritin deficiency Orphanet:440731 MONDO:equivalentTo L-ferritin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l-ferritin deficiency -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency Orphanet:169082 MONDO:equivalentTo Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to cd3gamma deficiency -MONDO:0014289 macrocephaly-developmental delay syndrome Orphanet:397612 MONDO:equivalentTo Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-developmental delay syndrome -MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema Orphanet:363540 MONDO:equivalentTo Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with mild cerebellar ataxia and white matter edema -MONDO:0014300 proximal myopathy with extrapyramidal signs Orphanet:401768 MONDO:equivalentTo Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal myopathy with extrapyramidal signs -MONDO:0014306 vasculitis due to ADA2 deficiency Orphanet:404553 MONDO:equivalentTo Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasculitis due to ada2 deficiency -MONDO:0014309 obesity due to CEP19 deficiency Orphanet:397615 MONDO:equivalentTo Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to cep19 deficiency -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Orphanet:437552 MONDO:equivalentTo Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Orphanet:397927 MONDO:equivalentTo Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome -MONDO:0014317 pancytopenia-developmental delay syndrome Orphanet:401764 MONDO:equivalentTo Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia-developmental delay syndrome -MONDO:0014331 Moyamoya disease with early-onset achalasia Orphanet:401945 MONDO:equivalentTo Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease with early-onset achalasia -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Orphanet:401948 MONDO:equivalentTo Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperammonemic encephalopathy due to carbonic anhydrase va deficiency -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency Orphanet:280142 MONDO:equivalentTo Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to lck deficiency -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Orphanet:404440 MONDO:equivalentTo Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency -MONDO:0014338 IL21-related infantile inflammatory bowel disease Orphanet:477661 MONDO:equivalentTo IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label il21-related infantile inflammatory bowel disease -MONDO:0014342 female infertility due to zona pellucida defect Orphanet:404466 MONDO:equivalentTo Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility due to zona pellucida defect -MONDO:0014349 pontocerebellar hypoplasia type 10 Orphanet:411493 MONDO:equivalentTo Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 10 -MONDO:0014351 pontocerebellar hypoplasia type 9 Orphanet:369920 MONDO:equivalentTo Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 9 -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency Orphanet:352490 MONDO:equivalentTo Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autism spectrum disorder due to auts2 deficiency -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Orphanet:420584 MONDO:equivalentTo Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome Orphanet:424099 MONDO:equivalentTo Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colobomatous microphthalmia-rhizomelic dysplasia syndrome -MONDO:0014388 familial median cleft of the upper and lower lips Orphanet:401942 MONDO:equivalentTo Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial median cleft of the upper and lower lips -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency Orphanet:420573 MONDO:equivalentTo Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to ctps1 deficiency -MONDO:0014397 combined oxidative phosphorylation defect type 20 Orphanet:420728 MONDO:equivalentTo Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 20 -MONDO:0014398 combined oxidative phosphorylation defect type 21 Orphanet:420733 MONDO:equivalentTo Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 21 -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy Orphanet:363400 MONDO:equivalentTo Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neurodegenerative syndrome with lipodystrophy -MONDO:0014403 short stature due to GHSR deficiency Orphanet:314811 MONDO:equivalentTo Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to ghsr deficiency -MONDO:0014405 STING-associated vasculopathy with onset in infancy Orphanet:425120 MONDO:equivalentTo STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sting-associated vasculopathy with onset in infancy -MONDO:0014410 spinocerebellar ataxia type 37 Orphanet:363710 MONDO:equivalentTo Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 37 -MONDO:0014413 orofaciodigital syndrome type 14 Orphanet:434179 MONDO:equivalentTo Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 14 -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease Orphanet:438159 MONDO:equivalentTo STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stat3-related early-onset multisystem autoimmune disease -MONDO:0014417 spinocerebellar ataxia type 38 Orphanet:423296 MONDO:equivalentTo Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 38 -MONDO:0014420 short stature due to primary acid-labile subunit deficiency Orphanet:140941 MONDO:equivalentTo Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to primary acid-labile subunit deficiency -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency Orphanet:317425 MONDO:equivalentTo Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to dna-pkcs deficiency -MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Orphanet:319581 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency -MONDO:0014431 LIPE-related familial partial lipodystrophy Orphanet:435660 MONDO:equivalentTo LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipe-related familial partial lipodystrophy -MONDO:0014449 congenital analbuminemia Orphanet:86816 MONDO:equivalentTo Congenital analbuminemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital analbuminemia -MONDO:0014452 familial dysfibrinogenemia Orphanet:98881 MONDO:equivalentTo Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial dysfibrinogenemia -MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Orphanet:436174 MONDO:equivalentTo Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Orphanet:423384 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to jagn1 deficiency -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Orphanet:423454 MONDO:equivalentTo Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency Orphanet:431361 MONDO:equivalentTo Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive encephalopathy with leukodystrophy due to decr deficiency -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome Orphanet:436166 MONDO:equivalentTo Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever-infantile enterocolitis-autoinflammatory syndrome -MONDO:0014475 spinocerebellar ataxia type 40 Orphanet:423275 MONDO:equivalentTo Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 40 -MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Orphanet:397758 MONDO:equivalentTo Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Orphanet:369861 MONDO:equivalentTo Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency Orphanet:445110 MONDO:equivalentTo Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-girdle muscular dystrophy due to pomk deficiency -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency Orphanet:438075 MONDO:equivalentTo Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ketoacidosis due to monocarboxylate transporter-1 deficiency -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency Orphanet:436159 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Orphanet:436245 MONDO:equivalentTo Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome -MONDO:0014497 polyendocrine-polyneuropathy syndrome Orphanet:453533 MONDO:equivalentTo Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyendocrine-polyneuropathy syndrome -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Orphanet:319563 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete isg15 deficiency -MONDO:0014507 Catel-Manzke syndrome Orphanet:1388 MONDO:equivalentTo Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catel-manzke syndrome -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency Orphanet:438178 MONDO:equivalentTo Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatty acyl-coa reductase 1 deficiency -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Orphanet:438216 MONDO:equivalentTo PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pura-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome Orphanet:444048 MONDO:equivalentTo 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xx ovarian dysgenesis-short stature syndrome -MONDO:0014521 progressive myoclonic epilepsy type 7 Orphanet:435438 MONDO:equivalentTo Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 7 -MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Orphanet:445062 MONDO:equivalentTo Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome -MONDO:0014525 combined oxidative phosphorylation defect type 23 Orphanet:444013 MONDO:equivalentTo Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 23 -MONDO:0014526 polyglucosan body myopathy type 2 Orphanet:456369 MONDO:equivalentTo Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyglucosan body myopathy type 2 -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome Orphanet:435953 MONDO:equivalentTo Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid features-hepatocellular carcinoma predisposition syndrome -MONDO:0014529 cerebellar-facial-dental syndrome Orphanet:444072 MONDO:equivalentTo Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar-facial-dental syndrome -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance Orphanet:457050 MONDO:equivalentTo Autosomal dominant mitochondrial myopathy with exercise intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mitochondrial myopathy with exercise intolerance -MONDO:0014545 progressive myoclonic epilepsy type 8 Orphanet:424027 MONDO:equivalentTo Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 8 -MONDO:0014547 combined oxidative phosphorylation defect type 24 Orphanet:444458 MONDO:equivalentTo Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 24 -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Orphanet:439897 MONDO:equivalentTo Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome -MONDO:0014555 peeling skin syndrome type A Orphanet:263548 MONDO:equivalentTo Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peeling skin syndrome type a -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Orphanet:457193 MONDO:equivalentTo Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Orphanet:457212 MONDO:equivalentTo Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Orphanet:457185 MONDO:equivalentTo Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome -MONDO:0014576 lipoyl transferase 1 deficiency Orphanet:401862 MONDO:equivalentTo Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoyl transferase 1 deficiency -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Orphanet:457279 MONDO:equivalentTo Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Orphanet:457284 MONDO:equivalentTo Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome -MONDO:0014608 mandibulofacial dysostosis with alopecia Orphanet:443995 MONDO:equivalentTo Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis with alopecia -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma Orphanet:448264 MONDO:equivalentTo Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal non-epidermolytic palmoplantar keratoderma -MONDO:0014626 spinocerebellar ataxia type 41 Orphanet:458798 MONDO:equivalentTo Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 41 -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome Orphanet:444092 MONDO:equivalentTo Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune interstitial lung disease-arthritis syndrome -MONDO:0014636 combined oxidative phosphorylation defect type 25 Orphanet:447954 MONDO:equivalentTo Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 25 -MONDO:0014637 DOCK2 deficiency Orphanet:447737 MONDO:equivalentTo DOCK2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dock2 deficiency -MONDO:0014645 BENTA disease Orphanet:464336 MONDO:equivalentTo BENTA disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benta disease -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome Orphanet:85165 MONDO:equivalentTo Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe achondroplasia-developmental delay-acanthosis nigricans syndrome -MONDO:0014684 combined oxidative phosphorylation defect type 26 Orphanet:477684 MONDO:equivalentTo Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 26 -MONDO:0014685 progressive myoclonic epilepsy type 9 Orphanet:457265 MONDO:equivalentTo Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy type 9 -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet:447974 MONDO:equivalentTo Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil anomaly-myopathy-facial dysmorphism syndrome -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Orphanet:457351 MONDO:equivalentTo Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome -MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 MONDO:equivalentTo Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia, stanescu type -MONDO:0014707 14q32 duplication syndrome Orphanet:488280 MONDO:equivalentTo 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q32 duplication syndrome -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Orphanet:477857 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete rorgamma receptor deficiency -MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W Orphanet:488333 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2w -MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Orphanet:477814 MONDO:equivalentTo Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Orphanet:431166 MONDO:equivalentTo Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Orphanet:457485 MONDO:equivalentTo Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome -MONDO:0014717 early-onset Lafora body disease Orphanet:324290 MONDO:equivalentTo Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset lafora body disease -MONDO:0014720 autosomal dominant optic atrophy plus syndrome Orphanet:1215 MONDO:equivalentTo Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy plus syndrome -MONDO:0014722 Roifman syndrome Orphanet:353298 MONDO:equivalentTo Roifman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label roifman syndrome -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome Orphanet:477817 MONDO:equivalentTo PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pmp22-rai1 contiguous gene duplication syndrome -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Orphanet:447997 MONDO:equivalentTo Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome -MONDO:0014728 combined oxidative phosphorylation defect type 27 Orphanet:477774 MONDO:equivalentTo Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 27 -MONDO:0014731 seizures-scoliosis-macrocephaly syndrome Orphanet:466926 MONDO:equivalentTo Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seizures-scoliosis-macrocephaly syndrome -MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 Orphanet:468717 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata type 5 -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Orphanet:466794 MONDO:equivalentTo Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome -MONDO:0014746 SLC39A8-CDG Orphanet:468699 MONDO:equivalentTo SLC39A8-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc39a8-cdg -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Orphanet:488197 MONDO:equivalentTo Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Orphanet:457395 MONDO:equivalentTo Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Orphanet:477993 MONDO:equivalentTo Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Orphanet:487796 MONDO:equivalentTo Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome Orphanet:464282 MONDO:equivalentTo Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-severe developmental delay-epilepsy syndrome -MONDO:0014776 spinocerebellar ataxia type 42 Orphanet:458803 MONDO:equivalentTo Spinocerebellar ataxia type 42 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 42 -MONDO:0014778 Lamb-Shaffer syndrome Orphanet:530983 MONDO:equivalentTo Lamb-Shaffer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamb-shaffer syndrome -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Orphanet:467176 MONDO:equivalentTo Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Orphanet:466688 MONDO:equivalentTo Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome -MONDO:0014789 CCDC115-CDG Orphanet:468684 MONDO:equivalentTo CCDC115-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ccdc115-cdg -MONDO:0014790 TMEM199-CDG Orphanet:466703 MONDO:equivalentTo TMEM199-CDG semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tmem199-cdg -MONDO:0014791 Luscan-Lumish syndrome Orphanet:597738 MONDO:equivalentTo Luscan-Lumish syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label luscan-lumish syndrome -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome Orphanet:488168 MONDO:equivalentTo Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-congenital cataract-psoriasiform dermatitis syndrome -MONDO:0014800 progressive scapulohumeroperoneal distal myopathy Orphanet:447977 MONDO:equivalentTo Progressive scapulohumeroperoneal distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive scapulohumeroperoneal distal myopathy -MONDO:0014801 even-plus syndrome Orphanet:496751 MONDO:equivalentTo EVEN-plus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label even-plus syndrome -MONDO:0014805 Hao-Fountain syndrome Orphanet:643549 MONDO:equivalentTo Hao-Fountain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hao-fountain syndrome -MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome Orphanet:488647 MONDO:equivalentTo DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ddx41-related hematologic malignancy predisposition syndrome -MONDO:0014810 pancytopenia due to IKZF1 mutations Orphanet:317473 MONDO:equivalentTo Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancytopenia due to ikzf1 mutations -MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome Orphanet:488232 MONDO:equivalentTo Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split-foot malformation-mesoaxial polydactyly syndrome -MONDO:0014821 complex lethal osteochondrodysplasia Orphanet:457378 MONDO:equivalentTo Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex lethal osteochondrodysplasia -MONDO:0014822 15q14 microdeletion syndrome Orphanet:261190 MONDO:equivalentTo 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q14 microdeletion syndrome -MONDO:0014827 autosomal recessive spastic paraplegia type 76 Orphanet:488594 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 76 -MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome Orphanet:300382 MONDO:equivalentTo Progeroid and marfanoid aspect-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid and marfanoid aspect-lipodystrophy syndrome -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder Orphanet:488642 MONDO:equivalentTo TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telo2-related intellectual disability-neurodevelopmental disorder -MONDO:0014856 combined oxidative phosphorylation defect type 30 Orphanet:478042 MONDO:equivalentTo Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined oxidative phosphorylation defect type 30 -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency Orphanet:420702 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to csf3r deficiency -MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome Orphanet:528091 MONDO:equivalentTo Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome -MONDO:0014870 NEK9-related lethal skeletal dysplasia Orphanet:464366 MONDO:equivalentTo NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nek9-related lethal skeletal dysplasia -MONDO:0014873 nevus comedonicus syndrome Orphanet:64754 MONDO:equivalentTo Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus comedonicus syndrome -MONDO:0014881 transketolase deficiency Orphanet:488618 MONDO:equivalentTo Transketolase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transketolase deficiency -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Orphanet:488627 MONDO:equivalentTo Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome -MONDO:0014888 MIRAGE syndrome Orphanet:494433 MONDO:equivalentTo MIRAGE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirage syndrome -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Orphanet:476126 MONDO:equivalentTo Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome -MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Orphanet:486815 MONDO:equivalentTo Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome Orphanet:500062 MONDO:equivalentTo Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset periodic fever-panniculitis-dermatosis syndrome -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome Orphanet:500095 MONDO:equivalentTo Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tall stature-intellectual disability-renal anomalies syndrome -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome Orphanet:464288 MONDO:equivalentTo Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-brachydactyly-obesity-global developmental delay syndrome -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome Orphanet:468620 MONDO:equivalentTo Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-epilepsy-extrapyramidal syndrome -MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome Orphanet:542306 MONDO:equivalentTo GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnb5-related intellectual disability-cardiac arrhythmia syndrome -MONDO:0014969 isolated sedoheptulokinase deficiency Orphanet:440713 MONDO:equivalentTo Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sedoheptulokinase deficiency -MONDO:0014975 autosomal recessive spastic paraplegia type 78 Orphanet:513436 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 78 -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Orphanet:478049 MONDO:equivalentTo Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome -MONDO:0015010 atypical glycine encephalopathy Orphanet:289863 MONDO:equivalentTo Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical glycine encephalopathy -MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Orphanet:505248 MONDO:equivalentTo Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders -MONDO:0015027 familial isolated hyperparathyroidism Orphanet:99879 MONDO:equivalentTo Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hyperparathyroidism -MONDO:0015028 48,XXYY syndrome Orphanet:10 MONDO:equivalentTo 48,XXYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xxyy syndrome -MONDO:0015029 reticular perineurioma Orphanet:100000 MONDO:equivalentTo Reticular perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reticular perineurioma -MONDO:0015030 sclerosing perineurioma Orphanet:100001 MONDO:equivalentTo Sclerosing perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing perineurioma -MONDO:0015031 extraneural perineurioma Orphanet:100002 MONDO:equivalentTo Extraneural perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraneural perineurioma -MONDO:0015032 intraneural perineurioma Orphanet:100003 MONDO:equivalentTo Intraneural perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraneural perineurioma -MONDO:0015033 ABeta amyloidosis, dutch type Orphanet:100006 MONDO:equivalentTo ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, dutch type -MONDO:0015034 lissencephaly with cerebellar hypoplasia type A Orphanet:100011 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type a -MONDO:0015035 lissencephaly with cerebellar hypoplasia type B Orphanet:100012 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type b -MONDO:0015036 lissencephaly with cerebellar hypoplasia type C Orphanet:100013 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type c -MONDO:0015037 lissencephaly with cerebellar hypoplasia type D Orphanet:100014 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type d -MONDO:0015038 lissencephaly with cerebellar hypoplasia type E Orphanet:100015 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type e -MONDO:0015039 lissencephaly with cerebellar hypoplasia type F Orphanet:100016 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia type F semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia type f -MONDO:0015042 primary plasmacytoma of the bone Orphanet:100021 MONDO:equivalentTo Primary plasmacytoma of the bone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary plasmacytoma of the bone -MONDO:0015043 extramedullary soft tissue plasmacytoma Orphanet:100022 MONDO:equivalentTo Extramedullary soft tissue plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary soft tissue plasmacytoma -MONDO:0015044 mu-heavy chain disease Orphanet:100024 MONDO:equivalentTo Mu-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mu-heavy chain disease -MONDO:0015045 alpha-heavy chain disease Orphanet:100025 MONDO:equivalentTo Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-heavy chain disease -MONDO:0015046 gamma-heavy chain disease Orphanet:100026 MONDO:equivalentTo Gamma-heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gamma-heavy chain disease -MONDO:0015049 solitary necrotic nodule of the liver Orphanet:100035 MONDO:equivalentTo Solitary necrotic nodule of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary necrotic nodule of the liver -MONDO:0015050 esophageal duplication cyst Orphanet:100047 MONDO:equivalentTo Esophageal duplication cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal duplication cyst -MONDO:0015051 tubular duplication of the esophagus Orphanet:100048 MONDO:equivalentTo Tubular duplication of the esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubular duplication of the esophagus -MONDO:0015053 hereditary angioedema type 1 Orphanet:100050 MONDO:equivalentTo Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema type 1 -MONDO:0015054 hereditary angioedema type 2 Orphanet:100051 MONDO:equivalentTo Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema type 2 -MONDO:0015055 acquired angioedema type 2 Orphanet:100055 MONDO:equivalentTo Acquired angioedema type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema type 2 -MONDO:0015056 acquired angioedema type 1 Orphanet:100056 MONDO:equivalentTo Acquired angioedema type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema type 1 -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema Orphanet:100057 MONDO:equivalentTo Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renin-angiotensin-aldosterone system-blocker-induced angioedema -MONDO:0015059 progressive non-fluent aphasia Orphanet:100070 MONDO:equivalentTo Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia -MONDO:0015060 mosaic trisomy 3 Orphanet:100071 MONDO:equivalentTo Mosaic trisomy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 3 -MONDO:0015061 neurogenic thoracic outlet syndrome Orphanet:100073 MONDO:equivalentTo Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurogenic thoracic outlet syndrome -MONDO:0015071 middle ear neuroendocrine tumor Orphanet:100084 MONDO:equivalentTo Middle ear neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle ear neuroendocrine tumor -MONDO:0015079 multiple polyglandular tumor Orphanet:100094 MONDO:equivalentTo Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple polyglandular tumor -MONDO:0015082 alopecia antibody deficiency Orphanet:1006 MONDO:equivalentTo Alopecia antibody deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia antibody deficiency -MONDO:0015084 FRAXF syndrome Orphanet:100974 MONDO:equivalentTo FRAXF syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fraxf syndrome -MONDO:0015085 bathing suit ichthyosis Orphanet:100976 MONDO:equivalentTo Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bathing suit ichthyosis -MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome Orphanet:100978 MONDO:equivalentTo Cloverleaf skull-asphyxiating thoracic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cloverleaf skull-asphyxiating thoracic dysplasia syndrome -MONDO:0015087 autosomal dominant complex spastic paraplegia Orphanet:100979 MONDO:equivalentTo Autosomal dominant complex spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant complex spastic paraplegia -MONDO:0015092 cleft hard palate Orphanet:101023 MONDO:equivalentTo Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate -MONDO:0015093 sub-cortical nodular heterotopia Orphanet:101029 MONDO:equivalentTo Sub-cortical nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sub-cortical nodular heterotopia -MONDO:0015094 subependymal nodular heterotopia Orphanet:101030 MONDO:equivalentTo Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymal nodular heterotopia -MONDO:0015096 familial hypofibrinogenemia Orphanet:101041 MONDO:equivalentTo Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypofibrinogenemia -MONDO:0015099 unilateral hemispheric polymicrogyria Orphanet:101071 MONDO:equivalentTo Unilateral hemispheric polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral hemispheric polymicrogyria -MONDO:0015100 aregenerative anemia Orphanet:101096 MONDO:equivalentTo Aregenerative anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aregenerative anemia -MONDO:0015101 Marin-Amat syndrome Orphanet:101104 MONDO:equivalentTo Marin-Amat syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marin-amat syndrome -MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Orphanet:101206 MONDO:equivalentTo Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome -MONDO:0015104 porphyria cutanea tarda Orphanet:101330 MONDO:equivalentTo Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda -MONDO:0015126 polyendocrinopathy Orphanet:101956 MONDO:equivalentTo Polyendocrinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyendocrinopathy -MONDO:0015127 pituitary deficiency Orphanet:101957 MONDO:equivalentTo Pituitary deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary deficiency -MONDO:0015128 primary adrenal insufficiency Orphanet:101958 MONDO:equivalentTo Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary adrenal insufficiency -MONDO:0015129 chronic primary adrenal insufficiency Orphanet:101959 MONDO:equivalentTo Chronic primary adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic primary adrenal insufficiency -MONDO:0015134 constitutional neutropenia Orphanet:101987 MONDO:equivalentTo Constitutional neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label constitutional neutropenia -MONDO:0015137 periodic fever syndrome Orphanet:101995 MONDO:equivalentTo Periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever syndrome -MONDO:0015140 early-onset autosomal dominant Alzheimer disease Orphanet:1020 MONDO:equivalentTo Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autosomal dominant alzheimer disease -MONDO:0015146 classic lissencephaly Orphanet:102009 MONDO:equivalentTo Classic lissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic lissencephaly -MONDO:0015148 lissencephaly type 3 Orphanet:102011 MONDO:equivalentTo Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3 -MONDO:0015149 pure hereditary spastic paraplegia Orphanet:102012 MONDO:equivalentTo Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure hereditary spastic paraplegia -MONDO:0015150 complex hereditary spastic paraplegia Orphanet:102013 MONDO:equivalentTo Complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex hereditary spastic paraplegia -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy Orphanet:102015 MONDO:equivalentTo Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive limb-girdle muscular dystrophy -MONDO:0015158 unexplained periodic fever syndrome Orphanet:102237 MONDO:equivalentTo Unexplained periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unexplained periodic fever syndrome -MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability Orphanet:102283 MONDO:equivalentTo Multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:102285 MONDO:equivalentTo Multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Orphanet:102379 MONDO:equivalentTo Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent -MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Orphanet:102381 MONDO:equivalentTo Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor -MONDO:0015166 acute myeloid leukemia with t(8;21)(q22;q22) translocation Orphanet:102724 MONDO:equivalentTo Acute myeloid leukemia with t(8;21)(q22;q22) translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(8;21)(q22;q22) translocation -MONDO:0015168 arthrogryposis multiplex congenita Orphanet:1037 MONDO:equivalentTo Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency Orphanet:103907 MONDO:equivalentTo Chronic diarrhea due to glucoamylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic diarrhea due to glucoamylase deficiency -MONDO:0015170 congenital sodium diarrhea Orphanet:103908 MONDO:equivalentTo Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sodium diarrhea -MONDO:0015171 congenital enterocyte heparan sulfate deficiency Orphanet:103910 MONDO:equivalentTo Congenital enterocyte heparan sulfate deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enterocyte heparan sulfate deficiency -MONDO:0015175 autoimmune pancreatitis Orphanet:103919 MONDO:equivalentTo Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis -MONDO:0015176 undetermined colitis Orphanet:103920 MONDO:equivalentTo Undetermined colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undetermined colitis -MONDO:0015177 metaphyseal anadysplasia Orphanet:1040 MONDO:equivalentTo Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metaphyseal anadysplasia -MONDO:0015183 short bowel syndrome Orphanet:104008 MONDO:equivalentTo Short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short bowel syndrome -MONDO:0015185 intestinal polyposis syndrome Orphanet:104010 MONDO:equivalentTo Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal polyposis syndrome -MONDO:0015191 myopathic intestinal pseudoobstruction Orphanet:104077 MONDO:equivalentTo Myopathic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathic intestinal pseudoobstruction -MONDO:0015193 hydrops fetalis Orphanet:1041 MONDO:equivalentTo Hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops fetalis -MONDO:0015194 sideroblastic anemia Orphanet:1047 MONDO:equivalentTo Sideroblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sideroblastic anemia -MONDO:0015195 atresia of urethra Orphanet:105 MONDO:equivalentTo Atresia of urethra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atresia of urethra -MONDO:0015197 aneurysm of sinus of Valsalva Orphanet:1054 MONDO:equivalentTo Aneurysm of sinus of Valsalva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysm of sinus of valsalva -MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome Orphanet:1067 MONDO:equivalentTo Aniridia-ptosis-intellectual disability-familial obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aniridia-ptosis-intellectual disability-familial obesity syndrome -MONDO:0015200 anisakiasis Orphanet:1070 MONDO:equivalentTo Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis -MONDO:0015203 coronary artery congenital malformation Orphanet:1081 MONDO:equivalentTo Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary artery congenital malformation -MONDO:0015204 microlissencephaly Orphanet:1083 MONDO:equivalentTo Microlissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly -MONDO:0015205 isolated lissencephaly type 1 without known genetic defects Orphanet:1084 MONDO:equivalentTo Isolated lissencephaly type 1 without known genetic defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated lissencephaly type 1 without known genetic defects -MONDO:0015209 non-syndromic gastroduodenal malformation Orphanet:108963 MONDO:equivalentTo Non-syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic gastroduodenal malformation -MONDO:0015210 syndromic gastroduodenal malformation Orphanet:108965 MONDO:equivalentTo Syndromic gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic gastroduodenal malformation -MONDO:0015211 non-syndromic intestinal malformation Orphanet:108967 MONDO:equivalentTo Non-syndromic intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic intestinal malformation -MONDO:0015212 syndromic intestinal malformation Orphanet:108969 MONDO:equivalentTo Syndromic intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic intestinal malformation -MONDO:0015213 non-syndromic visceral malformation Orphanet:108971 MONDO:equivalentTo Non-syndromic visceral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic visceral malformation -MONDO:0015214 syndromic visceral malformation Orphanet:108973 MONDO:equivalentTo Syndromic visceral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic visceral malformation -MONDO:0015221 non-syndromic respiratory or mediastinal malformation Orphanet:108993 MONDO:equivalentTo Non-syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic respiratory or mediastinal malformation -MONDO:0015222 syndromic respiratory or mediastinal malformation Orphanet:108995 MONDO:equivalentTo Syndromic respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic respiratory or mediastinal malformation -MONDO:0015225 arthrogryposis syndrome Orphanet:109007 MONDO:equivalentTo Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis syndrome -MONDO:0015227 non-syndromic limb malformation Orphanet:109011 MONDO:equivalentTo Non-syndromic limb malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic limb malformation -MONDO:0015228 pentasomy X Orphanet:11 MONDO:equivalentTo Pentasomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pentasomy x -MONDO:0015229 Bardet-Biedl syndrome Orphanet:110 MONDO:equivalentTo Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bardet-biedl syndrome -MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Orphanet:1101 MONDO:equivalentTo Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome -MONDO:0015231 Bartter syndrome Orphanet:112 MONDO:equivalentTo Bartter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartter syndrome -MONDO:0015232 radial deficiency-tibial hypoplasia syndrome Orphanet:1121 MONDO:equivalentTo Radial deficiency-tibial hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial deficiency-tibial hypoplasia syndrome -MONDO:0015233 caudal appendage-deafness syndrome Orphanet:1123 MONDO:equivalentTo Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal appendage-deafness syndrome -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome Orphanet:1129 MONDO:equivalentTo Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnodactyly-abnormal ossification-intellectual disability syndrome -MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome Orphanet:1130 MONDO:equivalentTo Arachnodactyly-intellectual disability-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnodactyly-intellectual disability-dysmorphism syndrome -MONDO:0015236 aortic arch defects Orphanet:1132 MONDO:equivalentTo Aortic arch defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic arch defects -MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome Orphanet:1135 MONDO:equivalentTo Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arrhinia-choanal atresia-microphthalmia syndrome -MONDO:0015239 abnormal origin of the pulmonary artery Orphanet:1138 MONDO:equivalentTo Abnormal origin of the pulmonary artery semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abnormal origin of the pulmonary artery -MONDO:0015243 allergic bronchopulmonary aspergillosis Orphanet:1164 MONDO:equivalentTo Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic bronchopulmonary aspergillosis -MONDO:0015244 autosomal recessive cerebellar ataxia Orphanet:1172 MONDO:equivalentTo Autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebellar ataxia -MONDO:0015246 syndromic anorectal malformation Orphanet:117573 MONDO:equivalentTo Syndromic anorectal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic anorectal malformation -MONDO:0015247 opsoclonus-myoclonus syndrome Orphanet:1183 MONDO:equivalentTo Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opsoclonus-myoclonus syndrome -MONDO:0015248 ataxia-photosensitivity-short stature syndrome Orphanet:1184 MONDO:equivalentTo Ataxia-photosensitivity-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-photosensitivity-short stature syndrome -MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome Orphanet:1217 MONDO:equivalentTo Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal atrophy-ophthalmoplegia-pyramidal syndrome -MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome Orphanet:1236 MONDO:equivalentTo Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome -MONDO:0015253 Diamond-Blackfan anemia Orphanet:124 MONDO:equivalentTo Diamond-Blackfan anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia -MONDO:0015254 schistosomiasis Orphanet:1247 MONDO:equivalentTo Schistosomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schistosomiasis -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome Orphanet:1277 MONDO:equivalentTo Brachydactyly-mesomelia-intellectual disability-heart defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly-mesomelia-intellectual disability-heart defects syndrome -MONDO:0015260 diphyllobothriasis Orphanet:128 MONDO:equivalentTo Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis -MONDO:0015261 pseudopelade of Brocq Orphanet:129 MONDO:equivalentTo Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudopelade of brocq -MONDO:0015262 brachyolmia Orphanet:1293 MONDO:equivalentTo Brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachyolmia -MONDO:0015263 Brugada syndrome Orphanet:130 MONDO:equivalentTo Brugada syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brugada syndrome -MONDO:0015264 cryptogenic organizing pneumonia Orphanet:1302 MONDO:equivalentTo Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic organizing pneumonia -MONDO:0015267 Feingold syndrome Orphanet:1305 MONDO:equivalentTo Feingold syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label feingold syndrome -MONDO:0015268 medullary sponge kidney Orphanet:1309 MONDO:equivalentTo Medullary sponge kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medullary sponge kidney -MONDO:0015269 symmetrical thalamic calcifications Orphanet:1314 MONDO:equivalentTo Symmetrical thalamic calcifications semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symmetrical thalamic calcifications -MONDO:0015270 butyrylcholinesterase deficiency Orphanet:132 MONDO:equivalentTo Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label butyrylcholinesterase deficiency -MONDO:0015271 idiopathic camptocormia Orphanet:1320 MONDO:equivalentTo Idiopathic camptocormia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic camptocormia -MONDO:0015272 camptodactyly-taurinuria syndrome Orphanet:1325 MONDO:equivalentTo Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camptodactyly-taurinuria syndrome -MONDO:0015274 chronic beryllium disease Orphanet:133 MONDO:equivalentTo Chronic beryllium disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic beryllium disease -MONDO:0015278 familial pancreatic carcinoma Orphanet:1333 MONDO:equivalentTo Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial pancreatic carcinoma -MONDO:0015279 chronic mucocutaneous candidiasis Orphanet:1334 MONDO:equivalentTo Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic mucocutaneous candidiasis -MONDO:0015280 cardiofaciocutaneous syndrome Orphanet:1340 MONDO:equivalentTo Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiofaciocutaneous syndrome -MONDO:0015281 atrial standstill Orphanet:1344 MONDO:equivalentTo Atrial standstill semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial standstill -MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome Orphanet:1345 MONDO:equivalentTo Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy-cataract-hip spine disease syndrome -MONDO:0015284 heart-hand syndrome type 2 Orphanet:1350 MONDO:equivalentTo Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome type 2 -MONDO:0015285 Carney complex Orphanet:1359 MONDO:equivalentTo Carney complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carney complex -MONDO:0015286 congenital disorder of glycosylation Orphanet:137 MONDO:equivalentTo Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of glycosylation -MONDO:0015289 infectious epithelial keratitis Orphanet:137593 MONDO:equivalentTo Infectious epithelial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious epithelial keratitis -MONDO:0015290 neurotrophic keratopathy Orphanet:137596 MONDO:equivalentTo Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurotrophic keratopathy -MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Orphanet:137608 MONDO:equivalentTo Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome -MONDO:0015294 nephrogenic systemic fibrosis Orphanet:137617 MONDO:equivalentTo Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis -MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome Orphanet:137622 MONDO:equivalentTo Intractable diarrhea-choanal atresia-eye anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intractable diarrhea-choanal atresia-eye anomalies syndrome -MONDO:0015296 cardiac anomalies-heterotaxy syndrome Orphanet:137628 MONDO:equivalentTo Cardiac anomalies-heterotaxy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac anomalies-heterotaxy syndrome -MONDO:0015298 pellucid marginal degeneration Orphanet:137672 MONDO:equivalentTo Pellucid marginal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pellucid marginal degeneration -MONDO:0015299 Asherman syndrome Orphanet:137686 MONDO:equivalentTo Asherman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asherman syndrome -MONDO:0015301 primary cutaneous amyloidosis Orphanet:137807 MONDO:equivalentTo Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis -MONDO:0015302 nodular cutaneous amyloidosis Orphanet:137810 MONDO:equivalentTo Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular cutaneous amyloidosis -MONDO:0015303 macular amyloidosis Orphanet:137814 MONDO:equivalentTo Macular amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macular amyloidosis -MONDO:0015304 arachnoiditis Orphanet:137817 MONDO:equivalentTo Arachnoiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arachnoiditis -MONDO:0015306 Lemierre syndrome Orphanet:137839 MONDO:equivalentTo Lemierre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lemierre syndrome -MONDO:0015307 Madras motor neuron disease Orphanet:137867 MONDO:equivalentTo Madras motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label madras motor neuron disease -MONDO:0015312 choanal atresia, unilateral Orphanet:137917 MONDO:equivalentTo Choanal atresia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia, unilateral -MONDO:0015313 choanal atresia, bilateral Orphanet:137920 MONDO:equivalentTo Choanal atresia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia, bilateral -MONDO:0015314 primary laryngeal lymphangioma Orphanet:137926 MONDO:equivalentTo Primary laryngeal lymphangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary laryngeal lymphangioma -MONDO:0015315 neonatal brainstem dysfunction Orphanet:137929 MONDO:equivalentTo Neonatal brainstem dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal brainstem dysfunction -MONDO:0015316 congenital laryngeal palsy Orphanet:137932 MONDO:equivalentTo Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal palsy -MONDO:0015317 laryngotracheal angioma Orphanet:137935 MONDO:equivalentTo Laryngotracheal angioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheal angioma -MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome Orphanet:1381 MONDO:equivalentTo Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-intellectual disability-anal atresia-urinary defects syndrome -MONDO:0015325 cataract-deafness-hypogonadism syndrome Orphanet:1383 MONDO:equivalentTo Cataract-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-deafness-hypogonadism syndrome -MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome Orphanet:1390 MONDO:equivalentTo Night blindness-skeletal anomalies-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness-skeletal anomalies-dysmorphism syndrome -MONDO:0015327 developmental anomaly of metabolic origin Orphanet:139009 MONDO:equivalentTo Developmental anomaly of metabolic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental anomaly of metabolic origin -MONDO:0015330 overgrowth/obesity syndrome Orphanet:139024 MONDO:equivalentTo Overgrowth/obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth/obesity syndrome -MONDO:0015333 progeroid syndrome Orphanet:139033 MONDO:equivalentTo Progeroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid syndrome -MONDO:0015334 branchial arch or oral-acral syndrome Orphanet:139036 MONDO:equivalentTo Branchial arch or oral-acral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchial arch or oral-acral syndrome -MONDO:0015338 syndromic craniosynostosis Orphanet:139393 MONDO:equivalentTo Syndromic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic craniosynostosis -MONDO:0015339 adrenomyeloneuropathy Orphanet:139399 MONDO:equivalentTo Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenomyeloneuropathy -MONDO:0015341 congenital panfollicular nevus Orphanet:139414 MONDO:equivalentTo Congenital panfollicular nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital panfollicular nevus -MONDO:0015342 acute transverse myelitis Orphanet:139417 MONDO:equivalentTo Acute transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute transverse myelitis -MONDO:0015344 idiopathic acute transverse myelitis Orphanet:139423 MONDO:equivalentTo Idiopathic acute transverse myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic acute transverse myelitis -MONDO:0015345 perioral myoclonia with absences Orphanet:139426 MONDO:equivalentTo Perioral myoclonia with absences semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perioral myoclonia with absences -MONDO:0015346 Jeavons syndrome Orphanet:139431 MONDO:equivalentTo Jeavons syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jeavons syndrome -MONDO:0015347 multicentric reticulohistiocytosis Orphanet:139436 MONDO:equivalentTo Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric reticulohistiocytosis -MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts Orphanet:139444 MONDO:equivalentTo Leukoencephalopathy with bilateral anterior temporal lobe cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy with bilateral anterior temporal lobe cysts -MONDO:0015349 progressive cavitating leukoencephalopathy Orphanet:139447 MONDO:equivalentTo Progressive cavitating leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive cavitating leukoencephalopathy -MONDO:0015350 17q11.2 microduplication syndrome Orphanet:139474 MONDO:equivalentTo 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 17q11.2 microduplication syndrome -MONDO:0015351 neuropathy with hearing impairment Orphanet:139512 MONDO:equivalentTo Neuropathy with hearing impairment semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuropathy with hearing impairment -MONDO:0015352 distal hereditary motor neuropathy type 2 Orphanet:139525 MONDO:equivalentTo Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy type 2 -MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay Orphanet:139573 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy with deafness and global delay semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy with deafness and global delay -MONDO:0015355 distal hereditary motor neuropathy type 7 Orphanet:139589 MONDO:equivalentTo Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy type 7 -MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion Orphanet:140286 MONDO:equivalentTo Secondary hypoparathyroidism due to impaired parathormon secretion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypoparathyroidism due to impaired parathormon secretion -MONDO:0015364 hereditary sensory and autonomic neuropathy Orphanet:140471 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy -MONDO:0015367 Charlie M syndrome Orphanet:1406 MONDO:equivalentTo Charlie M syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charlie m syndrome -MONDO:0015369 Joubert syndrome and related disorders Orphanet:140874 MONDO:equivalentTo Joubert syndrome and related disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome and related disorders -MONDO:0015371 linear atrophoderma of Moulin Orphanet:140933 MONDO:equivalentTo Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear atrophoderma of moulin -MONDO:0015372 autosomal dominant macrothrombocytopenia Orphanet:140957 MONDO:equivalentTo Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant macrothrombocytopenia -MONDO:0015375 orofaciodigital syndrome Orphanet:140997 MONDO:equivalentTo Orofaciodigital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome -MONDO:0015376 first branchial cleft anomaly Orphanet:141013 MONDO:equivalentTo First branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label first branchial cleft anomaly -MONDO:0015377 third branchial cleft anomaly Orphanet:141030 MONDO:equivalentTo Third branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label third branchial cleft anomaly -MONDO:0015378 fourth branchial cleft anomaly Orphanet:141037 MONDO:equivalentTo Fourth branchial cleft anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fourth branchial cleft anomaly -MONDO:0015379 cervical dermoid cyst Orphanet:141046 MONDO:equivalentTo Cervical dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical dermoid cyst -MONDO:0015380 facial dermoid cyst Orphanet:141051 MONDO:equivalentTo Facial dermoid cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dermoid cyst -MONDO:0015381 commissural lip fistula Orphanet:141061 MONDO:equivalentTo Commissural lip fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label commissural lip fistula -MONDO:0015382 lower lip fistula Orphanet:141064 MONDO:equivalentTo Lower lip fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower lip fistula -MONDO:0015383 cervicofacial fibrochondroma Orphanet:141067 MONDO:equivalentTo Cervicofacial fibrochondroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial fibrochondroma -MONDO:0015384 digestive duplication cyst of the tongue Orphanet:141071 MONDO:equivalentTo Digestive duplication cyst of the tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive duplication cyst of the tongue -MONDO:0015386 epignathus Orphanet:141077 MONDO:equivalentTo Epignathus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epignathus -MONDO:0015387 nasolacrimal duct cyst Orphanet:141083 MONDO:equivalentTo Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasolacrimal duct cyst -MONDO:0015388 polyrrhinia Orphanet:141091 MONDO:equivalentTo Polyrrhinia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyrrhinia -MONDO:0015389 supernumerary nostril Orphanet:141096 MONDO:equivalentTo Supernumerary nostril semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supernumerary nostril -MONDO:0015390 proboscis lateralis Orphanet:141099 MONDO:equivalentTo Proboscis lateralis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proboscis lateralis -MONDO:0015391 nasopharyngeal teratoma Orphanet:141107 MONDO:equivalentTo Nasopharyngeal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal teratoma -MONDO:0015392 nasal glial heterotopia Orphanet:141112 MONDO:equivalentTo Nasal glial heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia -MONDO:0015393 nasal ganglioglioma Orphanet:141115 MONDO:equivalentTo Nasal ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal ganglioglioma -MONDO:0015394 nasal encephalocele Orphanet:141118 MONDO:equivalentTo Nasal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal encephalocele -MONDO:0015395 congenital subglottic stenosis Orphanet:141121 MONDO:equivalentTo Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis -MONDO:0015396 congenital laryngeal cyst Orphanet:141124 MONDO:equivalentTo Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngeal cyst -MONDO:0015399 glossopalatine ankylosis Orphanet:141163 MONDO:equivalentTo Glossopalatine ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossopalatine ankylosis -MONDO:0015400 frontonasal arteriovenous malformation Orphanet:141168 MONDO:equivalentTo Frontonasal arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal arteriovenous malformation -MONDO:0015401 maxillary arteriovenous malformation Orphanet:141171 MONDO:equivalentTo Maxillary arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maxillary arteriovenous malformation -MONDO:0015402 mandibular arteriovenous malformation Orphanet:141174 MONDO:equivalentTo Mandibular arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibular arteriovenous malformation -MONDO:0015403 non-involuting congenital hemangioma Orphanet:141179 MONDO:equivalentTo Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-involuting congenital hemangioma -MONDO:0015404 rapidly involuting congenital hemangioma Orphanet:141184 MONDO:equivalentTo Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapidly involuting congenital hemangioma -MONDO:0015405 cerebrofacial arteriovenous metameric syndrome Orphanet:141189 MONDO:equivalentTo Cerebrofacial arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome -MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 Orphanet:141194 MONDO:equivalentTo Cerebrofacial arteriovenous metameric syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome type 1 -MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 Orphanet:141199 MONDO:equivalentTo Cerebrofacial arteriovenous metameric syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrofacial arteriovenous metameric syndrome type 3 -MONDO:0015408 diffuse lymphatic malformation Orphanet:141209 MONDO:equivalentTo Diffuse lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse lymphatic malformation -MONDO:0015409 isolated congenital syngnathia Orphanet:141214 MONDO:equivalentTo Isolated congenital syngnathia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital syngnathia -MONDO:0015411 facial cleft Orphanet:141229 MONDO:equivalentTo Facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial cleft -MONDO:0015412 median facial cleft Orphanet:141234 MONDO:equivalentTo Median facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median facial cleft -MONDO:0015413 median cleft of the upper lip and maxilla Orphanet:141239 MONDO:equivalentTo Median cleft of the upper lip and maxilla semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median cleft of the upper lip and maxilla -MONDO:0015414 paramedian nasal cleft Orphanet:141242 MONDO:equivalentTo Paramedian nasal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramedian nasal cleft -MONDO:0015415 oblique facial cleft Orphanet:141253 MONDO:equivalentTo Oblique facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oblique facial cleft -MONDO:0015416 Tessier number 5 facial cleft Orphanet:141261 MONDO:equivalentTo Tessier number 5 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 5 facial cleft -MONDO:0015417 Tessier number 6 facial cleft Orphanet:141265 MONDO:equivalentTo Tessier number 6 facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tessier number 6 facial cleft -MONDO:0015418 lateral facial cleft Orphanet:141269 MONDO:equivalentTo Lateral facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lateral facial cleft -MONDO:0015419 midline cervical cleft Orphanet:141288 MONDO:equivalentTo Midline cervical cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label midline cervical cleft -MONDO:0015420 cleft lip and alveolus Orphanet:141291 MONDO:equivalentTo Cleft lip and alveolus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip and alveolus -MONDO:0015421 orofaciodigital syndrome type 12 Orphanet:141327 MONDO:equivalentTo Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 12 -MONDO:0015422 orofaciodigital syndrome type 13 Orphanet:141330 MONDO:equivalentTo Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orofaciodigital syndrome type 13 -MONDO:0015425 lethal recessive chondrodysplasia Orphanet:1423 MONDO:equivalentTo Lethal recessive chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal recessive chondrodysplasia -MONDO:0015427 paroxysmal dyskinesia Orphanet:1431 MONDO:equivalentTo Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal dyskinesia -MONDO:0015428 choroidal atrophy-alopecia syndrome Orphanet:1433 MONDO:equivalentTo Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroidal atrophy-alopecia syndrome -MONDO:0015445 autosomal dominant coarctation of aorta Orphanet:1455 MONDO:equivalentTo Autosomal dominant coarctation of aorta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant coarctation of aorta -MONDO:0015446 atypical coarctation of aorta Orphanet:1456 MONDO:equivalentTo Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical coarctation of aorta -MONDO:0015447 differentiated thyroid carcinoma Orphanet:146 MONDO:equivalentTo Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label differentiated thyroid carcinoma -MONDO:0015449 criss-cross heart Orphanet:1461 MONDO:equivalentTo Criss-cross heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label criss-cross heart -MONDO:0015450 triatrial heart Orphanet:1463 MONDO:equivalentTo Triatrial heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triatrial heart -MONDO:0015451 univentricular heart Orphanet:1464 MONDO:equivalentTo Univentricular heart semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label univentricular heart -MONDO:0015452 Coffin-Siris syndrome Orphanet:1465 MONDO:equivalentTo Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coffin-siris syndrome -MONDO:0015453 Cogan syndrome Orphanet:1467 MONDO:equivalentTo Cogan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cogan syndrome -MONDO:0015454 multiple carboxylase deficiency Orphanet:148 MONDO:equivalentTo Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple carboxylase deficiency -MONDO:0015455 gonococcal conjunctivitis Orphanet:1482 MONDO:equivalentTo Gonococcal conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal conjunctivitis -MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Orphanet:1495 MONDO:equivalentTo Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome -MONDO:0015459 nasopharyngeal carcinoma Orphanet:150 MONDO:equivalentTo Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma -MONDO:0015461 short rib-polydactyly syndrome Orphanet:1505 MONDO:equivalentTo Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short rib-polydactyly syndrome -MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome Orphanet:1506 MONDO:equivalentTo Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thin ribs-tubular bones-dysmorphism syndrome -MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome Orphanet:1521 MONDO:equivalentTo Craniofrontonasal dysplasia-Poland anomaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofrontonasal dysplasia-poland anomaly syndrome -MONDO:0015465 craniometaphyseal dysplasia Orphanet:1522 MONDO:equivalentTo Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniometaphyseal dysplasia -MONDO:0015466 cranio-osteoarthropathy Orphanet:1525 MONDO:equivalentTo Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranio-osteoarthropathy -MONDO:0015467 craniosynostosis, Philadelphia type Orphanet:1527 MONDO:equivalentTo Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis, philadelphia type -MONDO:0015469 craniosynostosis Orphanet:1531 MONDO:equivalentTo Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis -MONDO:0015471 benign focal seizures of adolescence Orphanet:1544 MONDO:equivalentTo Benign focal seizures of adolescence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign focal seizures of adolescence -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome Orphanet:1548 MONDO:equivalentTo Cryptorchidism-arachnodactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptorchidism-arachnodactyly-intellectual disability syndrome -MONDO:0015476 cysts and fistulae of the face and oral cavity Orphanet:155835 MONDO:equivalentTo Cysts and fistulae of the face and oral cavity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysts and fistulae of the face and oral cavity -MONDO:0015477 pinnae fistula or cyst Orphanet:155838 MONDO:equivalentTo Pinnae fistula or cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinnae fistula or cyst -MONDO:0015478 paramedian facial cleft Orphanet:155867 MONDO:equivalentTo Paramedian facial cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paramedian facial cleft -MONDO:0015479 submucosal cleft palate Orphanet:155878 MONDO:equivalentTo Submucosal cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label submucosal cleft palate -MONDO:0015480 coloboma of superior eyelid Orphanet:155884 MONDO:equivalentTo Coloboma of superior eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of superior eyelid -MONDO:0015481 coloboma of inferior eyelid Orphanet:155889 MONDO:equivalentTo Coloboma of inferior eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of inferior eyelid -MONDO:0015483 mandibulofacial dysostosis Orphanet:155899 MONDO:equivalentTo Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis -MONDO:0015484 cysticercosis Orphanet:1560 MONDO:equivalentTo Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis -MONDO:0015491 immune complex mediated vasculitis Orphanet:156149 MONDO:equivalentTo Immune complex mediated vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune complex mediated vasculitis -MONDO:0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis Orphanet:156152 MONDO:equivalentTo Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-neutrophil cytoplasmic antibody-associated vasculitis -MONDO:0015494 isolated dystonia Orphanet:156159 MONDO:equivalentTo Isolated dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dystonia -MONDO:0015496 macroglossia Orphanet:156207 MONDO:equivalentTo Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia -MONDO:0015497 hypoglossia/aglossia Orphanet:156212 MONDO:equivalentTo Hypoglossia/aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoglossia/aglossia -MONDO:0015498 oromandibular-limb anomalies syndrome Orphanet:156215 MONDO:equivalentTo Oromandibular-limb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular-limb anomalies syndrome -MONDO:0015499 paralytic facial malformation Orphanet:156224 MONDO:equivalentTo Paralytic facial malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic facial malformation -MONDO:0015500 facial arteriovenous malformation Orphanet:156230 MONDO:equivalentTo Facial arteriovenous malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial arteriovenous malformation -MONDO:0015515 carnitine palmitoyltransferase II deficiency Orphanet:157 MONDO:equivalentTo Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carnitine palmitoyltransferase ii deficiency -MONDO:0015516 symbrachydactyly of hands and feet Orphanet:1570 MONDO:equivalentTo Symbrachydactyly of hands and feet semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symbrachydactyly of hands and feet -MONDO:0015517 common variable immunodeficiency Orphanet:1572 MONDO:equivalentTo Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency -MONDO:0015518 infantile bilateral striatal necrosis Orphanet:1576 MONDO:equivalentTo Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile bilateral striatal necrosis -MONDO:0015519 congenital or early infantile CACH syndrome Orphanet:157713 MONDO:equivalentTo Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital or early infantile cach syndrome -MONDO:0015520 late infantile CACH syndrome Orphanet:157716 MONDO:equivalentTo Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late infantile cach syndrome -MONDO:0015521 juvenile or adult CACH syndrome Orphanet:157719 MONDO:equivalentTo Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile or adult cach syndrome -MONDO:0015523 epithelioid hemangioendothelioma Orphanet:157791 MONDO:equivalentTo Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid hemangioendothelioma -MONDO:0015525 congenital pseudoarthrosis of the limbs Orphanet:157808 MONDO:equivalentTo Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the limbs -MONDO:0015526 cold-induced sweating syndrome Orphanet:157820 MONDO:equivalentTo Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cold-induced sweating syndrome -MONDO:0015528 congenital epulis Orphanet:157826 MONDO:equivalentTo Congenital epulis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital epulis -MONDO:0015529 paroxysmal Hemicrania Orphanet:157835 MONDO:equivalentTo Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal hemicrania -MONDO:0015530 trigeminal autonomic cephalalgia Orphanet:157843 MONDO:equivalentTo Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal autonomic cephalalgia -MONDO:0015531 non-Langerhans cell histiocytosis Orphanet:157987 MONDO:equivalentTo Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-langerhans cell histiocytosis -MONDO:0015532 generalized eruptive histiocytosis Orphanet:157991 MONDO:equivalentTo Generalized eruptive histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized eruptive histiocytosis -MONDO:0015533 benign cephalic histiocytosis Orphanet:157997 MONDO:equivalentTo Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign cephalic histiocytosis -MONDO:0015534 juvenile xanthogranuloma Orphanet:158000 MONDO:equivalentTo Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile xanthogranuloma -MONDO:0015535 xanthoma disseminatum Orphanet:158003 MONDO:equivalentTo Xanthoma disseminatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xanthoma disseminatum -MONDO:0015536 papular xanthoma Orphanet:158008 MONDO:equivalentTo Papular xanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular xanthoma -MONDO:0015537 necrobiotic xanthogranuloma Orphanet:158011 MONDO:equivalentTo Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrobiotic xanthogranuloma -MONDO:0015539 progressive nodular histiocytosis Orphanet:158022 MONDO:equivalentTo Progressive nodular histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive nodular histiocytosis -MONDO:0015540 hemophagocytic syndrome Orphanet:158032 MONDO:equivalentTo Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophagocytic syndrome -MONDO:0015542 secondary hemophagocytic lymphohistiocytosis Orphanet:158041 MONDO:equivalentTo Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hemophagocytic lymphohistiocytosis -MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease Orphanet:158057 MONDO:equivalentTo Acquired hemophagocytic lymphohistiocytosis associated with malignant disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophagocytic lymphohistiocytosis associated with malignant disease -MONDO:0015545 macrophage activation syndrome Orphanet:158061 MONDO:equivalentTo Macrophage activation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrophage activation syndrome -MONDO:0015548 Huntington disease-like syndrome Orphanet:158266 MONDO:equivalentTo Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like syndrome -MONDO:0015554 typical urticaria pigmentosa Orphanet:158766 MONDO:equivalentTo Typical urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typical urticaria pigmentosa -MONDO:0015555 plaque-form urticaria pigmentosa Orphanet:158769 MONDO:equivalentTo Plaque-form urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plaque-form urticaria pigmentosa -MONDO:0015556 nodular urticaria pigmentosa Orphanet:158772 MONDO:equivalentTo Nodular urticaria pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular urticaria pigmentosa -MONDO:0015558 isolated bone marrow mastocytosis Orphanet:158778 MONDO:equivalentTo Isolated bone marrow mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated bone marrow mastocytosis -MONDO:0015564 Castleman disease Orphanet:160 MONDO:equivalentTo Castleman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label castleman disease -MONDO:0015565 cap polyposis Orphanet:160148 MONDO:equivalentTo Cap polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cap polyposis -MONDO:0015566 2q24 microdeletion syndrome Orphanet:1617 MONDO:equivalentTo 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q24 microdeletion syndrome -MONDO:0015567 cataract-glaucoma syndrome Orphanet:162 MONDO:equivalentTo Cataract-glaucoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cataract-glaucoma syndrome -MONDO:0015568 isolated congenital nasal pyriform aperture stenosis Orphanet:162516 MONDO:equivalentTo Isolated congenital nasal pyriform aperture stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital nasal pyriform aperture stenosis -MONDO:0015570 isolated congenital auditory ossicle malformation Orphanet:162526 MONDO:equivalentTo Isolated congenital auditory ossicle malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital auditory ossicle malformation -MONDO:0015571 deletion 5q35 Orphanet:1627 MONDO:equivalentTo Deletion 5q35 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deletion 5q35 -MONDO:0015573 subacute cutaneous lupus erythematosus Orphanet:163525 MONDO:equivalentTo Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus -MONDO:0015574 chronic cutaneous lupus erythematosus Orphanet:163531 MONDO:equivalentTo Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic cutaneous lupus erythematosus -MONDO:0015579 Hb Bart's hydrops fetalis Orphanet:163596 MONDO:equivalentTo Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hb bart's hydrops fetalis -MONDO:0015580 distal monosomy 7q36 Orphanet:1636 MONDO:equivalentTo Distal monosomy 7q36 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal monosomy 7q36 -MONDO:0015583 2p21 microdeletion syndrome Orphanet:163693 MONDO:equivalentTo 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p21 microdeletion syndrome -MONDO:0015584 febrile infection-related epilepsy syndrome Orphanet:163703 MONDO:equivalentTo Febrile infection-related epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label febrile infection-related epilepsy syndrome -MONDO:0015585 cryptogenic late-onset epileptic spasms Orphanet:163708 MONDO:equivalentTo Cryptogenic late-onset epileptic spasms semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic late-onset epileptic spasms -MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome Orphanet:163721 MONDO:equivalentTo Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rolandic epilepsy-speech dyspraxia syndrome -MONDO:0015595 posttransplant acute limbic encephalitis Orphanet:163921 MONDO:equivalentTo Posttransplant acute limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posttransplant acute limbic encephalitis -MONDO:0015597 pustulosis palmaris et plantaris Orphanet:163927 MONDO:equivalentTo Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris -MONDO:0015599 atopic keratoconjunctivitis Orphanet:163934 MONDO:equivalentTo Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atopic keratoconjunctivitis -MONDO:0015600 X-linked intellectual disability, Cilliers type Orphanet:163971 MONDO:equivalentTo X-linked intellectual disability, Cilliers type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, cilliers type -MONDO:0015601 X-linked intellectual disability, van Esch type Orphanet:163976 MONDO:equivalentTo X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, van esch type -MONDO:0015606 Xp22.3 microdeletion syndrome Orphanet:1643 MONDO:equivalentTo Xp22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xp22.3 microdeletion syndrome -MONDO:0015607 partial chromosome Y deletion Orphanet:1646 MONDO:equivalentTo Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial chromosome y deletion -MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation Orphanet:164726 MONDO:equivalentTo Acute myeloid leukemia and myelodysplastic syndromes related to radiation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia and myelodysplastic syndromes related to radiation -MONDO:0015611 neutral lipid storage disease Orphanet:165 MONDO:equivalentTo Neutral lipid storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutral lipid storage disease -MONDO:0015612 Dent disease Orphanet:1652 MONDO:equivalentTo Dent disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dent disease -MONDO:0015613 dentin dysplasia Orphanet:1653 MONDO:equivalentTo Dentin dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentin dysplasia -MONDO:0015614 dermatitis herpetiformis Orphanet:1656 MONDO:equivalentTo Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis -MONDO:0015619 non-syndromic urogenital tract malformation Orphanet:165704 MONDO:equivalentTo Non-syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic urogenital tract malformation -MONDO:0015620 syndromic urogenital tract malformation Orphanet:165707 MONDO:equivalentTo Syndromic urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic urogenital tract malformation -MONDO:0015622 wound myiasis Orphanet:165955 MONDO:equivalentTo Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis -MONDO:0015623 cavitary myiasis Orphanet:165958 MONDO:equivalentTo Cavitary myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cavitary myiasis -MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism Orphanet:165985 MONDO:equivalentTo Diazoxide-sensitive diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-sensitive diffuse hyperinsulinism -MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism Orphanet:165988 MONDO:equivalentTo Diazoxide-resistant diffuse hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant diffuse hyperinsulinism -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly Orphanet:166002 MONDO:equivalentTo Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia due to collagen 9 anomaly -MONDO:0015628 von Willebrand disease type 2A Orphanet:166084 MONDO:equivalentTo Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2a -MONDO:0015629 von Willebrand disease type 2B Orphanet:166087 MONDO:equivalentTo Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2b -MONDO:0015630 von Willebrand disease type 2M Orphanet:166090 MONDO:equivalentTo Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2m -MONDO:0015631 von Willebrand disease type 2N Orphanet:166093 MONDO:equivalentTo Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label von willebrand disease type 2n -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy Orphanet:166105 MONDO:equivalentTo FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fastkd2-related infantile mitochondrial encephalomyopathy -MONDO:0015634 isolated osteopoikilosis Orphanet:166119 MONDO:equivalentTo Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated osteopoikilosis -MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus Orphanet:166286 MONDO:equivalentTo Porokeratotic eccrine ostial and dermal duct nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratotic eccrine ostial and dermal duct nevus -MONDO:0015636 dirofilariasis Orphanet:166291 MONDO:equivalentTo Dirofilariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dirofilariasis -MONDO:0015637 benign non-familial infantile seizures Orphanet:166295 MONDO:equivalentTo Benign non-familial infantile seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign non-familial infantile seizures -MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures Orphanet:166299 MONDO:equivalentTo Benign partial epilepsy of infancy with complex partial seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial epilepsy of infancy with complex partial seizures -MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy Orphanet:166302 MONDO:equivalentTo Benign partial epilepsy with secondarily generalized seizures in infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial epilepsy with secondarily generalized seizures in infancy -MONDO:0015640 benign infantile seizures associated with mild gastroenteritis Orphanet:166305 MONDO:equivalentTo Benign infantile seizures associated with mild gastroenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign infantile seizures associated with mild gastroenteritis -MONDO:0015642 benign partial infantile seizures Orphanet:166311 MONDO:equivalentTo Benign partial infantile seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign partial infantile seizures -MONDO:0015643 photosensitive epilepsy Orphanet:166409 MONDO:equivalentTo Photosensitive epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label photosensitive epilepsy -MONDO:0015644 audiogenic seizures Orphanet:166415 MONDO:equivalentTo Audiogenic seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label audiogenic seizures -MONDO:0015646 orgasm-induced seizures Orphanet:166421 MONDO:equivalentTo Orgasm-induced seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orgasm-induced seizures -MONDO:0015647 thinking seizures Orphanet:166424 MONDO:equivalentTo Thinking seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thinking seizures -MONDO:0015648 startle epilepsy Orphanet:166427 MONDO:equivalentTo Startle epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label startle epilepsy -MONDO:0015649 micturation-induced seizures Orphanet:166430 MONDO:equivalentTo Micturation-induced seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label micturation-induced seizures -MONDO:0015650 epilepsy syndrome Orphanet:166463 MONDO:equivalentTo Epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy syndrome -MONDO:0015660 sporadic fetal brain disruption sequence Orphanet:1665 MONDO:equivalentTo Sporadic fetal brain disruption sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic fetal brain disruption sequence -MONDO:0015661 dextrocardia Orphanet:1666 MONDO:equivalentTo Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia -MONDO:0015663 diencephalic syndrome Orphanet:1672 MONDO:equivalentTo Diencephalic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diencephalic syndrome -MONDO:0015664 idiopathic pulmonary artery dilatation Orphanet:1676 MONDO:equivalentTo Idiopathic pulmonary artery dilatation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pulmonary artery dilatation -MONDO:0015665 scleromyxedema Orphanet:167635 MONDO:equivalentTo Scleromyxedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromyxedema -MONDO:0015666 familial idiopathic dilatation of the right atrium Orphanet:1677 MONDO:equivalentTo Familial idiopathic dilatation of the right atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial idiopathic dilatation of the right atrium -MONDO:0015672 diprosopus Orphanet:1681 MONDO:equivalentTo Diprosopus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diprosopus -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis Orphanet:168491 MONDO:equivalentTo Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late infantile neuronal ceroid lipofuscinosis -MONDO:0015675 distomatosis Orphanet:1685 MONDO:equivalentTo Distomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distomatosis -MONDO:0015677 cardiac diverticulum Orphanet:1686 MONDO:equivalentTo Cardiac diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac diverticulum -MONDO:0015678 dysplasia of head of femur, Meyer type Orphanet:168621 MONDO:equivalentTo Dysplasia of head of femur, Meyer type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplasia of head of femur, meyer type -MONDO:0015681 childhood disintegrative disorder Orphanet:168782 MONDO:equivalentTo Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood disintegrative disorder -MONDO:0015686 primary peritoneal carcinoma Orphanet:168829 MONDO:equivalentTo Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary peritoneal carcinoma -MONDO:0015687 chronic eosinophilic leukemia Orphanet:168940 MONDO:equivalentTo Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic eosinophilic leukemia -MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 Orphanet:168943 MONDO:equivalentTo Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of pdgfra, pdgfrb, fgfr1 or jak2 -MONDO:0015691 hypereosinophilic syndrome Orphanet:168956 MONDO:equivalentTo Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilic syndrome -MONDO:0015692 refractory anemia with excess blasts in transformation Orphanet:168960 MONDO:equivalentTo Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractory anemia with excess blasts in transformation -MONDO:0015694 malignant melanoma of the mucosa Orphanet:168999 MONDO:equivalentTo Malignant melanoma of the mucosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant melanoma of the mucosa -MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction Orphanet:169090 MONDO:equivalentTo Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to crac channel dysfunction -MONDO:0015696 Good syndrome Orphanet:169105 MONDO:equivalentTo Good syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label good syndrome -MONDO:0015697 immunoglobulin heavy chain deficiency Orphanet:169110 MONDO:equivalentTo Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin heavy chain deficiency -MONDO:0015698 transient hypogammaglobulinemia of infancy Orphanet:169139 MONDO:equivalentTo Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient hypogammaglobulinemia of infancy -MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency Orphanet:169147 MONDO:equivalentTo Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to a classical component pathway complement deficiency -MONDO:0015700 immunodeficiency due to a late component of complement deficiency Orphanet:169150 MONDO:equivalentTo Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to a late component of complement deficiency -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Orphanet:169154 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to il-7ralpha deficiency -MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency Orphanet:169157 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to cd45 deficiency -MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta Orphanet:169160 MONDO:equivalentTo T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta -MONDO:0015704 familial scaphocephaly syndrome Orphanet:169163 MONDO:equivalentTo Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial scaphocephaly syndrome -MONDO:0015705 autosomal recessive centronuclear myopathy Orphanet:169186 MONDO:equivalentTo Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive centronuclear myopathy -MONDO:0015706 mosaic trisomy 1 Orphanet:1692 MONDO:equivalentTo Mosaic trisomy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 1 -MONDO:0015708 immuno-osseous dysplasia Orphanet:169349 MONDO:equivalentTo Immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immuno-osseous dysplasia -MONDO:0015715 severe hemophilia B Orphanet:169793 MONDO:equivalentTo Severe hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hemophilia b -MONDO:0015717 mild hemophilia B Orphanet:169799 MONDO:equivalentTo Mild hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hemophilia b -MONDO:0015718 mosaic trisomy 12 Orphanet:1698 MONDO:equivalentTo Mosaic trisomy 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 12 -MONDO:0015719 severe hemophilia A Orphanet:169802 MONDO:equivalentTo Severe hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe hemophilia a -MONDO:0015721 mild hemophilia A Orphanet:169808 MONDO:equivalentTo Mild hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hemophilia a -MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency Orphanet:169826 MONDO:equivalentTo Congenital vitamin K-dependent coagulation factors deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vitamin k-dependent coagulation factors deficiency -MONDO:0015723 trisomy 12p Orphanet:1699 MONDO:equivalentTo Trisomy 12p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 12p -MONDO:0015725 mosaic trisomy 14 Orphanet:1703 MONDO:equivalentTo Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 14 -MONDO:0015727 mosaic trisomy 15 Orphanet:1706 MONDO:equivalentTo Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 15 -MONDO:0015729 mosaic trisomy 16 Orphanet:1708 MONDO:equivalentTo Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 16 -MONDO:0015730 mosaic trisomy 17 Orphanet:1711 MONDO:equivalentTo Mosaic trisomy 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 17 -MONDO:0015734 rectal duplication Orphanet:171220 MONDO:equivalentTo Rectal duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal duplication -MONDO:0015735 severe congenital nemaline myopathy Orphanet:171430 MONDO:equivalentTo Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital nemaline myopathy -MONDO:0015736 intermediate nemaline myopathy Orphanet:171433 MONDO:equivalentTo Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate nemaline myopathy -MONDO:0015737 typical nemaline myopathy Orphanet:171436 MONDO:equivalentTo Typical nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typical nemaline myopathy -MONDO:0015738 childhood-onset nemaline myopathy Orphanet:171439 MONDO:equivalentTo Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset nemaline myopathy -MONDO:0015739 adult-onset nemaline myopathy Orphanet:171442 MONDO:equivalentTo Adult-onset nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset nemaline myopathy -MONDO:0015740 trisomy 18p Orphanet:1715 MONDO:equivalentTo Trisomy 18p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 18p -MONDO:0015743 idiopathic bilateral vestibulopathy Orphanet:171684 MONDO:equivalentTo Idiopathic bilateral vestibulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic bilateral vestibulopathy -MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome Orphanet:171703 MONDO:equivalentTo Microcephaly-polymicrogyria-corpus callosum agenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-polymicrogyria-corpus callosum agenesis syndrome -MONDO:0015746 male infertility due to globozoospermia Orphanet:171709 MONDO:equivalentTo Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to globozoospermia -MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Orphanet:171839 MONDO:equivalentTo Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome -MONDO:0015753 cap myopathy Orphanet:171881 MONDO:equivalentTo Cap myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cap myopathy -MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays Orphanet:171889 MONDO:equivalentTo Myopathy with hexagonally cross-linked tubular arrays semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopathy with hexagonally cross-linked tubular arrays -MONDO:0015756 myeloid hemopathy Orphanet:171895 MONDO:equivalentTo Myeloid hemopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid hemopathy -MONDO:0015757 lymphoid hemopathy Orphanet:171898 MONDO:equivalentTo Lymphoid hemopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoid hemopathy -MONDO:0015758 primary cutaneous T-cell lymphoma Orphanet:171901 MONDO:equivalentTo Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous t-cell lymphoma -MONDO:0015759 B-cell non-Hodgkin lymphoma Orphanet:171915 MONDO:equivalentTo B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell non-hodgkin lymphoma -MONDO:0015760 T-cell non-Hodgkin lymphoma Orphanet:171918 MONDO:equivalentTo T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma -MONDO:0015761 trisomy 10p Orphanet:171929 MONDO:equivalentTo Trisomy 10p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 10p -MONDO:0015762 progressive familial intrahepatic cholestasis Orphanet:172 MONDO:equivalentTo Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive familial intrahepatic cholestasis -MONDO:0015763 mosaic trisomy 2 Orphanet:1723 MONDO:equivalentTo Mosaic trisomy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 2 -MONDO:0015764 mosaic trisomy 20 Orphanet:1724 MONDO:equivalentTo Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 20 -MONDO:0015765 congenital myopathy with cores Orphanet:172976 MONDO:equivalentTo Congenital myopathy with cores semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with cores -MONDO:0015766 cholera Orphanet:173 MONDO:equivalentTo Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera -MONDO:0015767 trisomy 4p Orphanet:1738 MONDO:equivalentTo Trisomy 4p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 4p -MONDO:0015768 trisomy 5p Orphanet:1742 MONDO:equivalentTo Trisomy 5p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 5p -MONDO:0015770 congenital hypogonadotropic hypogonadism Orphanet:174590 MONDO:equivalentTo Congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypogonadotropic hypogonadism -MONDO:0015771 mosaic trisomy 7 Orphanet:1747 MONDO:equivalentTo Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 7 -MONDO:0015772 trisomy 8q Orphanet:1752 MONDO:equivalentTo Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 8q -MONDO:0015773 fibular dimelia-diplopodia syndrome Orphanet:1757 MONDO:equivalentTo Fibular dimelia-diplopodia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular dimelia-diplopodia syndrome -MONDO:0015774 thoraco-abdominal enteric duplication Orphanet:1759 MONDO:equivalentTo Thoraco-abdominal enteric duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoraco-abdominal enteric duplication -MONDO:0015775 non-rhizomelic chondrodysplasia punctata Orphanet:176 MONDO:equivalentTo Non-rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-rhizomelic chondrodysplasia punctata -MONDO:0015776 rhizomelic chondrodysplasia punctata Orphanet:177 MONDO:equivalentTo Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhizomelic chondrodysplasia punctata -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis Orphanet:1772 MONDO:equivalentTo 45,X/46,XY mixed gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 45,x/46,xy mixed gonadal dysgenesis -MONDO:0015780 dyskeratosis congenita Orphanet:1775 MONDO:equivalentTo Dyskeratosis congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyskeratosis congenita -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome Orphanet:1778 MONDO:equivalentTo Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-shawl scrotum-joint laxity syndrome -MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome Orphanet:1779 MONDO:equivalentTo Dysmorphism-cleft palate-loose skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-cleft palate-loose skin syndrome -MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Orphanet:177901 MONDO:equivalentTo Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal deletion of 15q11q13 type 1 -MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Orphanet:177904 MONDO:equivalentTo Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal deletion of 15q11q13 type 2 -MONDO:0015785 Prader-Willi syndrome due to translocation Orphanet:177907 MONDO:equivalentTo Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to translocation -MONDO:0015786 Prader-Willi syndrome due to imprinting mutation Orphanet:177910 MONDO:equivalentTo Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to imprinting mutation -MONDO:0015790 central diabetes insipidus Orphanet:178029 MONDO:equivalentTo Central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central diabetes insipidus -MONDO:0015792 transient congenital hypothyroidism Orphanet:178045 MONDO:equivalentTo Transient congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism -MONDO:0015793 moderate multiminicore disease with hand involvement Orphanet:178145 MONDO:equivalentTo Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moderate multiminicore disease with hand involvement -MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita Orphanet:178148 MONDO:equivalentTo Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antenatal multiminicore disease with arthrogryposis multiplex congenita -MONDO:0015795 undifferentiated embryonal sarcoma of the liver Orphanet:178315 MONDO:equivalentTo Undifferentiated embryonal sarcoma of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated embryonal sarcoma of the liver -MONDO:0015796 acute lung injury Orphanet:178320 MONDO:equivalentTo Acute lung injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute lung injury -MONDO:0015797 UV-sensitive syndrome Orphanet:178338 MONDO:equivalentTo UV-sensitive syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uv-sensitive syndrome -MONDO:0015798 inflammatory myofibroblastic tumor Orphanet:178342 MONDO:equivalentTo Inflammatory myofibroblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory myofibroblastic tumor -MONDO:0015799 Smith-McCort dysplasia Orphanet:178355 MONDO:equivalentTo Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia -MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome Orphanet:178377 MONDO:equivalentTo Osteosclerosis-developmental delay-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosclerosis-developmental delay-craniosynostosis syndrome -MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Orphanet:178396 MONDO:equivalentTo Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation -MONDO:0015802 autosomal dominant non-syndromic intellectual disability Orphanet:178469 MONDO:equivalentTo Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant non-syndromic intellectual disability -MONDO:0015803 wound botulism Orphanet:178475 MONDO:equivalentTo Wound botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound botulism -MONDO:0015804 infant botulism Orphanet:178478 MONDO:equivalentTo Infant botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infant botulism -MONDO:0015805 intestinal botulism Orphanet:178481 MONDO:equivalentTo Intestinal botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal botulism -MONDO:0015806 adult intestinal botulism Orphanet:178487 MONDO:equivalentTo Adult intestinal botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult intestinal botulism -MONDO:0015807 myopic macular degeneration Orphanet:178493 MONDO:equivalentTo Myopic macular degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopic macular degeneration -MONDO:0015808 folliculotropic mycosis fungoides Orphanet:178512 MONDO:equivalentTo Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label folliculotropic mycosis fungoides -MONDO:0015809 localized pagetoid reticulosis Orphanet:178517 MONDO:equivalentTo Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized pagetoid reticulosis -MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Orphanet:178522 MONDO:equivalentTo Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous cd4+ small/medium-sized pleomorphic t-cell lymphoma -MONDO:0015811 primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Orphanet:178528 MONDO:equivalentTo Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous aggressive epidermotropic cd8+ t-cell lymphoma -MONDO:0015812 primary cutaneous gamma/delta-positive T-cell lymphoma Orphanet:178533 MONDO:equivalentTo Primary cutaneous gamma/delta-positive T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma/delta-positive t-cell lymphoma -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma Orphanet:178536 MONDO:equivalentTo Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous marginal zone b-cell lymphoma -MONDO:0015814 primary cutaneous follicle center lymphoma Orphanet:178540 MONDO:equivalentTo Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous follicle center lymphoma -MONDO:0015816 indolent primary cutaneous T-cell lymphoma Orphanet:178548 MONDO:equivalentTo Indolent primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent primary cutaneous t-cell lymphoma -MONDO:0015819 indolent primary cutaneous B-cell lymphoma Orphanet:178557 MONDO:equivalentTo Indolent primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent primary cutaneous b-cell lymphoma -MONDO:0015820 primary cutaneous B-cell lymphoma Orphanet:178563 MONDO:equivalentTo Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous b-cell lymphoma -MONDO:0015821 mycosis fungoides and variants Orphanet:178566 MONDO:equivalentTo Mycosis fungoides and variants semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides and variants -MONDO:0015824 oculomaxillofacial dysostosis Orphanet:1794 MONDO:equivalentTo Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculomaxillofacial dysostosis -MONDO:0015826 autosomal dominant spondylocostal dysostosis Orphanet:1797 MONDO:equivalentTo Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant spondylocostal dysostosis -MONDO:0015827 distal renal tubular acidosis Orphanet:18 MONDO:equivalentTo Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis -MONDO:0015832 true unicornuate uterus Orphanet:180074 MONDO:equivalentTo True unicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label true unicornuate uterus -MONDO:0015833 pseudounicornuate uterus Orphanet:180079 MONDO:equivalentTo Pseudounicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudounicornuate uterus -MONDO:0015834 didelphys uterus Orphanet:180086 MONDO:equivalentTo Didelphys uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label didelphys uterus -MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina Orphanet:180106 MONDO:equivalentTo Bicervical bicornuate uterus and blind hemivagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicervical bicornuate uterus and blind hemivagina -MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina Orphanet:180111 MONDO:equivalentTo Bicervical bicornuate uterus with patent cervix and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicervical bicornuate uterus with patent cervix and vagina -MONDO:0015839 septate uterus Orphanet:180122 MONDO:equivalentTo Septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label septate uterus -MONDO:0015840 complete septate uterus Orphanet:180126 MONDO:equivalentTo Complete septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete septate uterus -MONDO:0015841 partial septate uterus Orphanet:180129 MONDO:equivalentTo Partial septate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial septate uterus -MONDO:0015842 bicornuate uterus Orphanet:180134 MONDO:equivalentTo Bicornuate uterus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bicornuate uterus -MONDO:0015843 uterine hypoplasia Orphanet:180139 MONDO:equivalentTo Uterine hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uterine hypoplasia -MONDO:0015845 uterine cervical aplasia and agenesis Orphanet:180145 MONDO:equivalentTo Uterine cervical aplasia and agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uterine cervical aplasia and agenesis -MONDO:0015849 longitudinal vaginal septum Orphanet:180157 MONDO:equivalentTo Longitudinal vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label longitudinal vaginal septum -MONDO:0015850 transverse vaginal septum Orphanet:180160 MONDO:equivalentTo Transverse vaginal septum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transverse vaginal septum -MONDO:0015854 supernumerary breasts Orphanet:180182 MONDO:equivalentTo Supernumerary breasts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supernumerary breasts -MONDO:0015855 isolated congenital breast hypoplasia/aplasia Orphanet:180188 MONDO:equivalentTo Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital breast hypoplasia/aplasia -MONDO:0015856 syndromic breast hypoplasia/aplasia Orphanet:180193 MONDO:equivalentTo Syndromic breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic breast hypoplasia/aplasia -MONDO:0015863 polyembryoma Orphanet:180229 MONDO:equivalentTo Polyembryoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyembryoma -MONDO:0015864 mixed germ cell tumor Orphanet:180234 MONDO:equivalentTo Mixed germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed germ cell tumor -MONDO:0015867 vaginal carcinoma Orphanet:180247 MONDO:equivalentTo Vaginal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal carcinoma -MONDO:0015872 giant adenofibroma of the breast Orphanet:180267 MONDO:equivalentTo Giant adenofibroma of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant adenofibroma of the breast -MONDO:0015873 Paget disease of the nipple Orphanet:180275 MONDO:equivalentTo Paget disease of the nipple semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paget disease of the nipple -MONDO:0015883 hidrotic ectodermal dysplasia, Halal type Orphanet:1809 MONDO:equivalentTo Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidrotic ectodermal dysplasia, halal type -MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia Orphanet:1810 MONDO:equivalentTo Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypohidrotic ectodermal dysplasia -MONDO:0015892 growth hormone insensitivity syndrome Orphanet:181393 MONDO:equivalentTo Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth hormone insensitivity syndrome -MONDO:0015898 adrenogenital syndrome Orphanet:181412 MONDO:equivalentTo Adrenogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adrenogenital syndrome -MONDO:0015903 hyperalphalipoproteinemia Orphanet:181428 MONDO:equivalentTo Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperalphalipoproteinemia -MONDO:0015908 chromomycosis Orphanet:182 MONDO:equivalentTo Chromomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromomycosis -MONDO:0015914 primary orthostatic hypotension Orphanet:182058 MONDO:equivalentTo Primary orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary orthostatic hypotension -MONDO:0015923 acquired peripheral neuropathy Orphanet:182086 MONDO:equivalentTo Acquired peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired peripheral neuropathy -MONDO:0015924 pulmonary arterial hypertension Orphanet:182090 MONDO:equivalentTo Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary arterial hypertension -MONDO:0015925 interstitial lung disease Orphanet:182095 MONDO:equivalentTo Interstitial lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease -MONDO:0015926 pneumoconiosis Orphanet:182098 MONDO:equivalentTo Pneumoconiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumoconiosis -MONDO:0015927 idiopathic eosinophilic pneumonia Orphanet:182101 MONDO:equivalentTo Idiopathic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic eosinophilic pneumonia -MONDO:0015929 thoracic malformation Orphanet:182108 MONDO:equivalentTo Thoracic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic malformation -MONDO:0015935 extragonadal germinoma Orphanet:182127 MONDO:equivalentTo Extragonadal germinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal germinoma -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome Orphanet:1825 MONDO:equivalentTo Epiphyseal dysplasia-hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphyseal dysplasia-hearing loss-dysmorphism syndrome -MONDO:0015942 frontometaphyseal dysplasia Orphanet:1826 MONDO:equivalentTo Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontometaphyseal dysplasia -MONDO:0015943 eosinophilic granulomatosis with polyangiitis Orphanet:183 MONDO:equivalentTo Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic granulomatosis with polyangiitis -MONDO:0015944 axial mesodermal dysplasia spectrum Orphanet:1834 MONDO:equivalentTo Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axial mesodermal dysplasia spectrum -MONDO:0015947 inherited ichthyosis Orphanet:183435 MONDO:equivalentTo Inherited ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited ichthyosis -MONDO:0015974 severe combined immunodeficiency Orphanet:183660 MONDO:equivalentTo Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency -MONDO:0015977 agammaglobulinemia Orphanet:183669 MONDO:equivalentTo Agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agammaglobulinemia -MONDO:0015978 functional neutrophil defect Orphanet:183681 MONDO:equivalentTo Functional neutrophil defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label functional neutrophil defect -MONDO:0015987 scimitar syndrome Orphanet:185 MONDO:equivalentTo Scimitar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scimitar syndrome -MONDO:0015988 multicystic dysplastic kidney Orphanet:1851 MONDO:equivalentTo Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicystic dysplastic kidney -MONDO:0015990 focal, segmental or multifocal dystonia Orphanet:1866 MONDO:equivalentTo Focal, segmental or multifocal dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal, segmental or multifocal dystonia -MONDO:0015991 citrullinemia Orphanet:187 MONDO:equivalentTo Citrullinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia -MONDO:0015995 melorheostosis with osteopoikilosis Orphanet:1879 MONDO:equivalentTo Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melorheostosis with osteopoikilosis -MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome Orphanet:1884 MONDO:equivalentTo Ectopia lentis-chorioretinal dystrophy-myopia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopia lentis-chorioretinal dystrophy-myopia syndrome -MONDO:0015998 isolated ectopia lentis Orphanet:1885 MONDO:equivalentTo Isolated ectopia lentis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated ectopia lentis -MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion Orphanet:189466 MONDO:equivalentTo Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated hypoparathyroidism due to impaired pth secretion -MONDO:0016001 2-hydroxyglutaric aciduria Orphanet:19 MONDO:equivalentTo 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2-hydroxyglutaric aciduria -MONDO:0016003 ehrlichiosis Orphanet:1902 MONDO:equivalentTo Ehrlichiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehrlichiosis -MONDO:0016004 aminopterin/methotrexate embryofetopathy Orphanet:1908 MONDO:equivalentTo Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aminopterin/methotrexate embryofetopathy -MONDO:0016005 indomethacin embryofetopathy Orphanet:1909 MONDO:equivalentTo Indomethacin embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indomethacin embryofetopathy -MONDO:0016006 Cockayne syndrome Orphanet:191 MONDO:equivalentTo Cockayne syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome -MONDO:0016007 cocaine embryofetopathy Orphanet:1911 MONDO:equivalentTo Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine embryofetopathy -MONDO:0016008 fetal hydantoin syndrome Orphanet:1912 MONDO:equivalentTo Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome -MONDO:0016009 fetal trimethadione syndrome Orphanet:1913 MONDO:equivalentTo Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal trimethadione syndrome -MONDO:0016011 fetal alcohol syndrome Orphanet:1915 MONDO:equivalentTo Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal alcohol syndrome -MONDO:0016012 diethylstilbestrol syndrome Orphanet:1916 MONDO:equivalentTo Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diethylstilbestrol syndrome -MONDO:0016013 fetal methylmercury syndrome Orphanet:1917 MONDO:equivalentTo Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal methylmercury syndrome -MONDO:0016014 fetal minoxidil syndrome Orphanet:1918 MONDO:equivalentTo Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal minoxidil syndrome -MONDO:0016015 phenobarbital embryopathy Orphanet:1919 MONDO:equivalentTo Phenobarbital embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phenobarbital embryopathy -MONDO:0016016 toluene embryopathy Orphanet:1920 MONDO:equivalentTo Toluene embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toluene embryopathy -MONDO:0016017 methimazole embryofetopathy Orphanet:1923 MONDO:equivalentTo Methimazole embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methimazole embryofetopathy -MONDO:0016018 diabetic embryopathy Orphanet:1926 MONDO:equivalentTo Diabetic embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic embryopathy -MONDO:0016019 Rasmussen subacute encephalitis Orphanet:1929 MONDO:equivalentTo Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasmussen subacute encephalitis -MONDO:0016020 frontal encephalocele Orphanet:1931 MONDO:equivalentTo Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele -MONDO:0016022 early myoclonic encephalopathy Orphanet:1935 MONDO:equivalentTo Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early myoclonic encephalopathy -MONDO:0016025 myoclonic-astatic epilepsy Orphanet:1942 MONDO:equivalentTo Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-astatic epilepsy -MONDO:0016029 esthesioneuroblastoma Orphanet:1957 MONDO:equivalentTo Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esthesioneuroblastoma -MONDO:0016030 Evans syndrome Orphanet:1959 MONDO:equivalentTo Evans syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label evans syndrome -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome Orphanet:1969 MONDO:equivalentTo Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome -MONDO:0016032 femoral agenesis/hypoplasia Orphanet:1987 MONDO:equivalentTo Femoral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label femoral agenesis/hypoplasia -MONDO:0016033 Cornelia de Lange syndrome Orphanet:199 MONDO:equivalentTo Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cornelia de lange syndrome -MONDO:0016034 cleft lip with or without cleft palate Orphanet:1991 MONDO:equivalentTo Cleft lip with or without cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip with or without cleft palate -MONDO:0016035 Nelson syndrome Orphanet:199244 MONDO:equivalentTo Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome -MONDO:0016037 superficial Fibromatosis Orphanet:199257 MONDO:equivalentTo Superficial fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial fibromatosis -MONDO:0016039 infantile digital fibromatosis Orphanet:199267 MONDO:equivalentTo Infantile digital fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile digital fibromatosis -MONDO:0016040 harlequin syndrome Orphanet:199282 MONDO:equivalentTo Harlequin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harlequin syndrome -MONDO:0016041 congenital microgastria Orphanet:199293 MONDO:equivalentTo Congenital microgastria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital microgastria -MONDO:0016042 late-onset isolated ACTH deficiency Orphanet:199299 MONDO:equivalentTo Late-onset isolated ACTH deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset isolated acth deficiency -MONDO:0016043 isolated cleft lip Orphanet:199302 MONDO:equivalentTo Isolated cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cleft lip -MONDO:0016044 cleft lip/palate Orphanet:199306 MONDO:equivalentTo Cleft lip/palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate -MONDO:0016045 tetragametic chimerism Orphanet:199310 MONDO:equivalentTo Tetragametic chimerism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetragametic chimerism -MONDO:0016046 familial clubfoot with or without associated lower limb anomalies Orphanet:199315 MONDO:equivalentTo Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot with or without associated lower limb anomalies -MONDO:0016047 endophthalmitis Orphanet:199323 MONDO:equivalentTo Endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endophthalmitis -MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type Orphanet:199326 MONDO:equivalentTo Isolated autosomal dominant hypomagnesemia, Glaudemans type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated autosomal dominant hypomagnesemia, glaudemans type -MONDO:0016049 congenital myopathy, Paradas type Orphanet:199329 MONDO:equivalentTo Congenital myopathy, Paradas type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy, paradas type -MONDO:0016051 cleft lip-retinopathy syndrome Orphanet:1995 MONDO:equivalentTo Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip-retinopathy syndrome -MONDO:0016052 atypical autism Orphanet:199627 MONDO:equivalentTo Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism -MONDO:0016053 isolated cerebellar vermis hypoplasia Orphanet:199630 MONDO:equivalentTo Isolated cerebellar vermis hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cerebellar vermis hypoplasia -MONDO:0016056 isolated congenital microcephaly Orphanet:199642 MONDO:equivalentTo Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital microcephaly -MONDO:0016057 isolated encephalocele Orphanet:199647 MONDO:equivalentTo Isolated encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated encephalocele -MONDO:0016058 paroxysmal dystonia Orphanet:200037 MONDO:equivalentTo Paroxysmal dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal dystonia -MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome Orphanet:2003 MONDO:equivalentTo Cleft lip/palate-deafness-sacral lipoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip/palate-deafness-sacral lipoma syndrome -MONDO:0016060 laryngotracheoesophageal cleft Orphanet:2004 MONDO:equivalentTo Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft -MONDO:0016061 immunodeficiency with factor H anomaly Orphanet:200421 MONDO:equivalentTo Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency with factor h anomaly -MONDO:0016064 cleft palate Orphanet:2014 MONDO:equivalentTo Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome Orphanet:2015 MONDO:equivalentTo Cleft palate-short stature-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate-short stature-vertebral anomalies syndrome -MONDO:0016066 sternal cleft Orphanet:2017 MONDO:equivalentTo Sternal cleft semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sternal cleft -MONDO:0016067 Crandall syndrome Orphanet:202 MONDO:equivalentTo Crandall syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crandall syndrome -MONDO:0016068 fibrochondrogenesis Orphanet:2021 MONDO:equivalentTo Fibrochondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrochondrogenesis -MONDO:0016070 hereditary gingival fibromatosis Orphanet:2024 MONDO:equivalentTo Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary gingival fibromatosis -MONDO:0016071 juvenile hyaline fibromatosis Orphanet:2028 MONDO:equivalentTo Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile hyaline fibromatosis -MONDO:0016075 filariasis Orphanet:2034 MONDO:equivalentTo Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis -MONDO:0016077 congenital aortopulmonary window Orphanet:2037 MONDO:equivalentTo Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aortopulmonary window -MONDO:0016078 congenital systemic arteriovenous fistula Orphanet:2039 MONDO:equivalentTo Congenital systemic arteriovenous fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital systemic arteriovenous fistula -MONDO:0016079 sporadic Creutzfeldt-Jakob disease Orphanet:204 MONDO:equivalentTo Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic creutzfeldt-jakob disease -MONDO:0016083 FLOTCH syndrome Orphanet:2045 MONDO:equivalentTo FLOTCH syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label flotch syndrome -MONDO:0016085 Cole-Carpenter syndrome Orphanet:2050 MONDO:equivalentTo Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cole-carpenter syndrome -MONDO:0016087 progressive non-infectious anterior vertebral fusion Orphanet:2062 MONDO:equivalentTo Progressive non-infectious anterior vertebral fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-infectious anterior vertebral fusion -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency Orphanet:206428 MONDO:equivalentTo Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoxanthine-guanine phosphoribosyltransferase deficiency -MONDO:0016089 infantile Krabbe disease Orphanet:206436 MONDO:equivalentTo Infantile Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile krabbe disease -MONDO:0016090 late-infantile/juvenile Krabbe disease Orphanet:206443 MONDO:equivalentTo Late-infantile/juvenile Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-infantile/juvenile krabbe disease -MONDO:0016091 adult Krabbe disease Orphanet:206448 MONDO:equivalentTo Adult Krabbe disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult krabbe disease -MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary Orphanet:206538 MONDO:equivalentTo Malignant non-dysgerminomatous germ cell tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant non-dysgerminomatous germ cell tumor of ovary -MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Orphanet:206546 MONDO:equivalentTo Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of muscular dystrophy of duchenne and becker in female carriers -MONDO:0016098 immune-mediated necrotizing myopathy Orphanet:206569 MONDO:equivalentTo Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune-mediated necrotizing myopathy -MONDO:0016099 overlap myositis Orphanet:206572 MONDO:equivalentTo Overlap myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overlap myositis -MONDO:0016100 rippling muscle disease with myasthenia gravis Orphanet:206575 MONDO:equivalentTo Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rippling muscle disease with myasthenia gravis -MONDO:0016101 neurolymphomatosis Orphanet:206586 MONDO:equivalentTo Neurolymphomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurolymphomatosis -MONDO:0016102 subacute inflammatory demyelinating polyneuropathy Orphanet:206594 MONDO:equivalentTo Subacute inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute inflammatory demyelinating polyneuropathy -MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase Orphanet:206599 MONDO:equivalentTo Isolated asymptomatic elevation of creatine phosphokinase semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated asymptomatic elevation of creatine phosphokinase -MONDO:0016105 acquired skeletal muscle disease Orphanet:206638 MONDO:equivalentTo Acquired skeletal muscle disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired skeletal muscle disease -MONDO:0016106 progressive muscular dystrophy Orphanet:206644 MONDO:equivalentTo Progressive muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive muscular dystrophy -MONDO:0016107 myotonic dystrophy Orphanet:206647 MONDO:equivalentTo Myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonic dystrophy -MONDO:0016108 autosomal dominant distal myopathy Orphanet:206650 MONDO:equivalentTo Autosomal dominant distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal myopathy -MONDO:0016113 bulbospinal muscular atrophy Orphanet:206701 MONDO:equivalentTo Bulbospinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulbospinal muscular atrophy -MONDO:0016120 myotonic syndrome Orphanet:206970 MONDO:equivalentTo Myotonic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonic syndrome -MONDO:0016121 congenital myotonia Orphanet:206973 MONDO:equivalentTo Congenital myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myotonia -MONDO:0016122 periodic paralysis Orphanet:206976 MONDO:equivalentTo Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis -MONDO:0016126 viral myositis Orphanet:206991 MONDO:equivalentTo Viral myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral myositis -MONDO:0016127 bacterial myositis Orphanet:206994 MONDO:equivalentTo Bacterial myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bacterial myositis -MONDO:0016128 parasitic myositis Orphanet:206997 MONDO:equivalentTo Parasitic myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parasitic myositis -MONDO:0016129 eosinophilic gastroenteritis Orphanet:2070 MONDO:equivalentTo Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic gastroenteritis -MONDO:0016130 fungal myositis Orphanet:207000 MONDO:equivalentTo Fungal myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal myositis -MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases Orphanet:207049 MONDO:equivalentTo Qualitative or quantitative protein defects in neuromuscular diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative protein defects in neuromuscular diseases -MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan Orphanet:207060 MONDO:equivalentTo Qualitative or quantitative defects of alpha-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-sarcoglycan -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan Orphanet:207063 MONDO:equivalentTo Qualitative or quantitative defects of beta-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of beta-sarcoglycan -MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan Orphanet:207067 MONDO:equivalentTo Qualitative or quantitative defects of gamma-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of gamma-sarcoglycan -MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan Orphanet:207070 MONDO:equivalentTo Qualitative or quantitative defects of delta-sarcoglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of delta-sarcoglycan -MONDO:0016145 qualitative or quantitative defects of dysferlin Orphanet:207073 MONDO:equivalentTo Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of dysferlin -MONDO:0016147 qualitative or quantitative defects of dystrophin Orphanet:207085 MONDO:equivalentTo Qualitative or quantitative defects of dystrophin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of dystrophin -MONDO:0016151 qualitative or quantitative defects of perlecan Orphanet:207101 MONDO:equivalentTo Qualitative or quantitative defects of perlecan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of perlecan -MONDO:0016153 qualitative or quantitative defects of TRIM32 Orphanet:207107 MONDO:equivalentTo Qualitative or quantitative defects of TRIM32 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of trim32 -MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Orphanet:207113 MONDO:equivalentTo Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein involved in o-glycosylation of alpha-dystroglycan -MONDO:0016156 qualitative or quantitative defects of FKRP Orphanet:207119 MONDO:equivalentTo Qualitative or quantitative defects of FKRP semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of fkrp -MONDO:0016159 Gemignani syndrome Orphanet:2074 MONDO:equivalentTo Gemignani syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gemignani syndrome -MONDO:0016160 X-linked intellectual disability-epilepsy syndrome Orphanet:2076 MONDO:equivalentTo X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-epilepsy syndrome -MONDO:0016162 bilateral frontal polymicrogyria Orphanet:208444 MONDO:equivalentTo Bilateral frontal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral frontal polymicrogyria -MONDO:0016163 autosomal dominant cerebellar ataxia type II Orphanet:208508 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type ii -MONDO:0016164 herpetiform pemphigus Orphanet:208524 MONDO:equivalentTo Herpetiform pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label herpetiform pemphigus -MONDO:0016167 optic pathway glioma Orphanet:2086 MONDO:equivalentTo Optic pathway glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic pathway glioma -MONDO:0016168 cryopyrin-associated periodic syndrome Orphanet:208650 MONDO:equivalentTo Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryopyrin-associated periodic syndrome -MONDO:0016175 cutis laxa Orphanet:209 MONDO:equivalentTo Cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutis laxa -MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Orphanet:209004 MONDO:equivalentTo Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axonal polyneuropathy associated with igg/igm/iga monoclonal gammopathy -MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 Orphanet:209030 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannosyltransferase 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein o-mannosyltransferase 1 -MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 Orphanet:209033 MONDO:equivalentTo Qualitative or quantitative defects of protein O-mannosyltransferase 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein o-mannosyltransferase 2 -MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins Orphanet:209038 MONDO:equivalentTo Qualitative or quantitative defects of myofibrillar proteins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of myofibrillar proteins -MONDO:0016187 qualitative or quantitative defects of desmin Orphanet:209041 MONDO:equivalentTo Qualitative or quantitative defects of desmin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of desmin -MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin Orphanet:209044 MONDO:equivalentTo Qualitative or quantitative defects of alphaB-cristallin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alphab-cristallin -MONDO:0016189 qualitative or quantitative defects of filamin C Orphanet:209047 MONDO:equivalentTo Qualitative or quantitative defects of filamin C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of filamin c -MONDO:0016190 qualitative or quantitative defects of protein ZASP Orphanet:209050 MONDO:equivalentTo Qualitative or quantitative defects of protein ZASP semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein zasp -MONDO:0016191 qualitative or quantitative defects of titin Orphanet:209053 MONDO:equivalentTo Qualitative or quantitative defects of titin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of titin -MONDO:0016192 qualitative or quantitative defects of telethonin Orphanet:209056 MONDO:equivalentTo Qualitative or quantitative defects of telethonin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of telethonin -MONDO:0016193 qualitative or quantitative defects of alpha-actin Orphanet:209059 MONDO:equivalentTo Qualitative or quantitative defects of alpha-actin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-actin -MONDO:0016194 qualitative or quantitative defects of nebulin Orphanet:209182 MONDO:equivalentTo Qualitative or quantitative defects of nebulin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of nebulin -MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) Orphanet:209185 MONDO:equivalentTo Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of beta-myosin heavy chain (myh7) -MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 Orphanet:209193 MONDO:equivalentTo Qualitative or quantitative defects of selenoprotein N1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of selenoprotein n1 -MONDO:0016198 qualitative or quantitative defects of plectin Orphanet:209196 MONDO:equivalentTo Qualitative or quantitative defects of plectin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of plectin -MONDO:0016199 qualitative or quantitative defects of protein SERCA1 Orphanet:209199 MONDO:equivalentTo Qualitative or quantitative defects of protein SERCA1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of protein serca1 -MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment Orphanet:209867 MONDO:equivalentTo Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant rhegmatogenous retinal detachment -MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Orphanet:209902 MONDO:equivalentTo Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency -MONDO:0016204 idiopathic copper-associated cirrhosis Orphanet:209919 MONDO:equivalentTo Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic copper-associated cirrhosis -MONDO:0016205 IRVAN syndrome Orphanet:209943 MONDO:equivalentTo IRVAN syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irvan syndrome -MONDO:0016206 idiopathic uveal effusion syndrome Orphanet:209956 MONDO:equivalentTo Idiopathic uveal effusion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic uveal effusion syndrome -MONDO:0016207 phacoanaphylactic uveitis Orphanet:209959 MONDO:equivalentTo Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phacoanaphylactic uveitis -MONDO:0016208 solitary rectal ulcer syndrome Orphanet:209964 MONDO:equivalentTo Solitary rectal ulcer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary rectal ulcer syndrome -MONDO:0016210 alternating hemiplegia Orphanet:209978 MONDO:equivalentTo Alternating hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alternating hemiplegia -MONDO:0016211 non-papillary transitional cell carcinoma of the bladder Orphanet:209989 MONDO:equivalentTo Non-papillary transitional cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-papillary transitional cell carcinoma of the bladder -MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Orphanet:210133 MONDO:equivalentTo Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome -MONDO:0016214 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Orphanet:210136 MONDO:equivalentTo Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome -MONDO:0016216 adult hepatocellular carcinoma Orphanet:210159 MONDO:equivalentTo Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult hepatocellular carcinoma -MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome Orphanet:2104 MONDO:equivalentTo Dysmorphism-pectus carinatum-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysmorphism-pectus carinatum-joint laxity syndrome -MONDO:0016220 congenital temporomandibular joint ankylosis Orphanet:210576 MONDO:equivalentTo Congenital temporomandibular joint ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital temporomandibular joint ankylosis -MONDO:0016221 temporomandibular joint anomaly Orphanet:210581 MONDO:equivalentTo Temporomandibular joint anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temporomandibular joint anomaly -MONDO:0016222 spindle cell hemangioma Orphanet:210584 MONDO:equivalentTo Spindle cell hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spindle cell hemangioma -MONDO:0016223 infantile hemangioma of rare localization Orphanet:210589 MONDO:equivalentTo Infantile hemangioma of rare localization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hemangioma of rare localization -MONDO:0016225 specific learning disability Orphanet:211047 MONDO:equivalentTo Specific learning disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label specific learning disability -MONDO:0016226 specific language disorder Orphanet:211053 MONDO:equivalentTo Specific language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label specific language disorder -MONDO:0016227 hereditary episodic ataxia Orphanet:211062 MONDO:equivalentTo Hereditary episodic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary episodic ataxia -MONDO:0016236 kaposiform hemangioendothelioma Orphanet:2122 MONDO:equivalentTo Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposiform hemangioendothelioma -MONDO:0016237 diffuse neonatal hemangiomatosis Orphanet:2123 MONDO:equivalentTo Diffuse neonatal hemangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse neonatal hemangiomatosis -MONDO:0016238 solitary fibrous tumor Orphanet:2126 MONDO:equivalentTo Solitary fibrous tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary fibrous tumor -MONDO:0016239 cystinosis Orphanet:213 MONDO:equivalentTo Cystinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinosis -MONDO:0016240 hemimelia Orphanet:2130 MONDO:equivalentTo Hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimelia -MONDO:0016241 alternating hemiplegia of childhood Orphanet:2131 MONDO:equivalentTo Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alternating hemiplegia of childhood -MONDO:0016242 hemoglobin C disease Orphanet:2132 MONDO:equivalentTo Hemoglobin C disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin c disease -MONDO:0016243 hemoglobin E disease Orphanet:2133 MONDO:equivalentTo Hemoglobin E disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin e disease -MONDO:0016256 Hennekam syndrome Orphanet:2136 MONDO:equivalentTo Hennekam syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hennekam syndrome -MONDO:0016259 carcinosarcoma of the corpus uteri Orphanet:213610 MONDO:equivalentTo Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinosarcoma of the corpus uteri -MONDO:0016262 leiomyosarcoma of the corpus uteri Orphanet:213625 MONDO:equivalentTo Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma of the corpus uteri -MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri Orphanet:213630 MONDO:equivalentTo Primitive neuroectodermal tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive neuroectodermal tumor of the corpus uteri -MONDO:0016264 autoimmune hepatitis Orphanet:2137 MONDO:equivalentTo Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis -MONDO:0016266 squamous cell carcinoma of the corpus uteri Orphanet:213716 MONDO:equivalentTo Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of the corpus uteri -MONDO:0016267 undifferentiated carcinoma of the corpus uteri Orphanet:213721 MONDO:equivalentTo Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of the corpus uteri -MONDO:0016269 high-grade neuroendocrine carcinoma of the corpus uteri Orphanet:213731 MONDO:equivalentTo High-grade neuroendocrine carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade neuroendocrine carcinoma of the corpus uteri -MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri Orphanet:213736 MONDO:equivalentTo Low-grade neuroendocrine tumor of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low-grade neuroendocrine tumor of the corpus uteri -MONDO:0016272 transitional cell carcinoma of the corpus uteri Orphanet:213746 MONDO:equivalentTo Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transitional cell carcinoma of the corpus uteri -MONDO:0016276 high-grade neuroendocrine carcinoma of the cervix uteri Orphanet:213777 MONDO:equivalentTo High-grade neuroendocrine carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high-grade neuroendocrine carcinoma of the cervix uteri -MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri Orphanet:213782 MONDO:equivalentTo Malignant mixed epithelial and mesenchymal tumor of cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant mixed epithelial and mesenchymal tumor of cervix uteri -MONDO:0016280 sarcoma of cervix uteri Orphanet:213797 MONDO:equivalentTo Sarcoma of cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoma of cervix uteri -MONDO:0016282 rhabdomyosarcoma of the cervix uteri Orphanet:213802 MONDO:equivalentTo Rhabdomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhabdomyosarcoma of the cervix uteri -MONDO:0016283 leiomyosarcoma of the cervix uteri Orphanet:213807 MONDO:equivalentTo Leiomyosarcoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leiomyosarcoma of the cervix uteri -MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri Orphanet:213812 MONDO:equivalentTo Primitive neuroectodermal tumor of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive neuroectodermal tumor of the cervix uteri -MONDO:0016287 adenoid basal carcinoma of the cervix uteri Orphanet:213828 MONDO:equivalentTo Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenoid basal carcinoma of the cervix uteri -MONDO:0016290 Hernández-Aguirre Negrete syndrome Orphanet:2139 MONDO:equivalentTo Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hernández-aguirre negrete syndrome -MONDO:0016291 craniosynostosis, Herrmann-Opitz type Orphanet:2145 MONDO:equivalentTo Craniosynostosis, Herrmann-Opitz type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis, herrmann-opitz type -MONDO:0016292 nodular neuronal heterotopia Orphanet:2149 MONDO:equivalentTo Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular neuronal heterotopia -MONDO:0016293 congenital stationary night blindness Orphanet:215 MONDO:equivalentTo Congenital stationary night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stationary night blindness -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome Orphanet:2150 MONDO:equivalentTo Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease-type d brachydactyly syndrome -MONDO:0016295 neuronal ceroid lipofuscinosis Orphanet:216 MONDO:equivalentTo Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis -MONDO:0016296 holoprosencephaly Orphanet:2162 MONDO:equivalentTo Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly -MONDO:0016299 holoprosencephaly-caudal dysgenesis syndrome Orphanet:2165 MONDO:equivalentTo Holoprosencephaly-caudal dysgenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly-caudal dysgenesis syndrome -MONDO:0016301 congenitally corrected transposition of the great arteries Orphanet:216694 MONDO:equivalentTo Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally corrected transposition of the great arteries -MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries Orphanet:216718 MONDO:equivalentTo Isolated congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenitally uncorrected transposition of the great arteries -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation Orphanet:216729 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally uncorrected transposition of the great arteries with cardiac malformation -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration Orphanet:216866 MONDO:equivalentTo Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic pantothenate kinase-associated neurodegeneration -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration Orphanet:216873 MONDO:equivalentTo Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical pantothenate kinase-associated neurodegeneration -MONDO:0016306 Niemann-Pick disease type C, severe perinatal form Orphanet:216972 MONDO:equivalentTo Niemann-Pick disease type C, severe perinatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, severe perinatal form -MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset Orphanet:216975 MONDO:equivalentTo Niemann-Pick disease type C, severe early infantile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, severe early infantile neurologic onset -MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset Orphanet:216978 MONDO:equivalentTo Niemann-Pick disease type C, late infantile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, late infantile neurologic onset -MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset Orphanet:216981 MONDO:equivalentTo Niemann-Pick disease type C, juvenile neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, juvenile neurologic onset -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset Orphanet:216986 MONDO:equivalentTo Niemann-Pick disease type C, adult neurologic onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c, adult neurologic onset -MONDO:0016311 Bockenheimer syndrome Orphanet:217008 MONDO:equivalentTo Bockenheimer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bockenheimer syndrome -MONDO:0016312 5-fluorouracil poisoning Orphanet:217064 MONDO:equivalentTo 5-fluorouracil poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5-fluorouracil poisoning -MONDO:0016315 mucopolysaccharidosis type 2, severe form Orphanet:217085 MONDO:equivalentTo Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2, severe form -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form Orphanet:217093 MONDO:equivalentTo Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 2, attenuated form -MONDO:0016318 progressive multifocal leukoencephalopathy Orphanet:217260 MONDO:equivalentTo Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy -MONDO:0016321 pulmonary interstitial glycogenosis Orphanet:217557 MONDO:equivalentTo Pulmonary interstitial glycogenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary interstitial glycogenosis -MONDO:0016322 neuroendocrine cell hyperplasia of infancy Orphanet:217560 MONDO:equivalentTo Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroendocrine cell hyperplasia of infancy -MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency Orphanet:217566 MONDO:equivalentTo Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic respiratory distress with surfactant metabolism deficiency -MONDO:0016330 non-familial hypertrophic cardiomyopathy Orphanet:217598 MONDO:equivalentTo Non-familial hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial hypertrophic cardiomyopathy -MONDO:0016331 infantile systemic hyalinosis Orphanet:2176 MONDO:equivalentTo Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile systemic hyalinosis -MONDO:0016333 familial dilated cardiomyopathy Orphanet:217607 MONDO:equivalentTo Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial dilated cardiomyopathy -MONDO:0016338 non-familial dilated cardiomyopathy Orphanet:217629 MONDO:equivalentTo Non-familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial dilated cardiomyopathy -MONDO:0016340 familial restrictive cardiomyopathy Orphanet:217635 MONDO:equivalentTo Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial restrictive cardiomyopathy -MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia Orphanet:217656 MONDO:equivalentTo Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic right ventricular dysplasia -MONDO:0016344 hydranencephaly Orphanet:2177 MONDO:equivalentTo Hydranencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydranencephaly -MONDO:0016345 non-familial restrictive cardiomyopathy Orphanet:217720 MONDO:equivalentTo Non-familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-familial restrictive cardiomyopathy -MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome Orphanet:2183 MONDO:equivalentTo Hydrocephalus-obesity-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-obesity-hypogonadism syndrome -MONDO:0016349 congenital hydrocephalus Orphanet:2185 MONDO:equivalentTo Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus -MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome Orphanet:2186 MONDO:equivalentTo Hydrocephalus-blue sclerae-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus-blue sclerae-nephropathy syndrome -MONDO:0016351 anti-HLA hyperimmunization Orphanet:2194 MONDO:equivalentTo Anti-HLA hyperimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-hla hyperimmunization -MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome Orphanet:2201 MONDO:equivalentTo Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palmoplantar keratoderma-spastic paralysis syndrome -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex Orphanet:220295 MONDO:equivalentTo Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum-cockayne syndrome complex -MONDO:0016356 diffuse cutaneous systemic sclerosis Orphanet:220393 MONDO:equivalentTo Diffuse cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse cutaneous systemic sclerosis -MONDO:0016357 dysplastic cortical hyperostosis Orphanet:646139 MONDO:equivalentTo Dysplastic cortical hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplastic cortical hyperostosis -MONDO:0016358 limited cutaneous systemic sclerosis Orphanet:220402 MONDO:equivalentTo Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limited cutaneous systemic sclerosis -MONDO:0016359 limited systemic sclerosis Orphanet:220407 MONDO:equivalentTo Limited systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limited systemic sclerosis -MONDO:0016362 attenuated familial adenomatous polyposis Orphanet:220460 MONDO:equivalentTo Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attenuated familial adenomatous polyposis -MONDO:0016364 Joubert syndrome with ocular defect Orphanet:220493 MONDO:equivalentTo Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with ocular defect -MONDO:0016365 familial primary hyperparathyroidism Orphanet:2207 MONDO:equivalentTo Familial primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial primary hyperparathyroidism -MONDO:0016366 maternal phenylketonuria Orphanet:2209 MONDO:equivalentTo Maternal phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal phenylketonuria -MONDO:0016367 dermatomyositis Orphanet:221 MONDO:equivalentTo Dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatomyositis -MONDO:0016368 Rothmund-Thomson syndrome type 1 Orphanet:221008 MONDO:equivalentTo Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 1 -MONDO:0016369 Rothmund-Thomson syndrome type 2 Orphanet:221016 MONDO:equivalentTo Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rothmund-thomson syndrome type 2 -MONDO:0016370 Marchiafava-Bignami disease Orphanet:221074 MONDO:equivalentTo Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marchiafava-bignami disease -MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves Orphanet:221078 MONDO:equivalentTo Combined hyperactive dysfunction syndrome of the cranial nerves semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hyperactive dysfunction syndrome of the cranial nerves -MONDO:0016372 glossopharyngeal neuralgia Orphanet:221098 MONDO:equivalentTo Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossopharyngeal neuralgia -MONDO:0016374 cranial neuralgia Orphanet:221109 MONDO:equivalentTo Cranial neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranial neuralgia -MONDO:0016376 confetti-like macular atrophy Orphanet:221142 MONDO:equivalentTo Confetti-like macular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label confetti-like macular atrophy -MONDO:0016379 erosive pustular dermatosis of the scalp Orphanet:222 MONDO:equivalentTo Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erosive pustular dermatosis of the scalp -MONDO:0016380 acquired hypertrichosis lanuginosa Orphanet:2221 MONDO:equivalentTo Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa -MONDO:0016381 hypertrichosis lanuginosa congenita Orphanet:2222 MONDO:equivalentTo Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis lanuginosa congenita -MONDO:0016382 hereditary poikiloderma Orphanet:222628 MONDO:equivalentTo Hereditary poikiloderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary poikiloderma -MONDO:0016383 nephrogenic diabetes insipidus Orphanet:223 MONDO:equivalentTo Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus -MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Orphanet:2230 MONDO:equivalentTo Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-frontoparietal alopecia syndrome -MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome Orphanet:2233 MONDO:equivalentTo Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadism-mitral valve prolapse-intellectual disability syndrome -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Orphanet:2235 MONDO:equivalentTo Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-retinitis pigmentosa syndrome -MONDO:0016387 mitochondrial oxidative phosphorylation disorder Orphanet:223713 MONDO:equivalentTo Mitochondrial oxidative phosphorylation disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial oxidative phosphorylation disorder -MONDO:0016391 neonatal diabetes mellitus Orphanet:224 MONDO:equivalentTo Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus -MONDO:0016392 cerebellar hypoplasia-tapetoretinal degeneration syndrome Orphanet:2246 MONDO:equivalentTo Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar hypoplasia-tapetoretinal degeneration syndrome -MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Orphanet:2250 MONDO:equivalentTo Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -MONDO:0016394 sporadic infantile bilateral striatal necrosis Orphanet:225147 MONDO:equivalentTo Sporadic infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic infantile bilateral striatal necrosis -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome Orphanet:2253 MONDO:equivalentTo Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foveal hypoplasia-presenile cataract syndrome -MONDO:0016396 pontocerebellar hypoplasia type 1 Orphanet:2254 MONDO:equivalentTo Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 1 -MONDO:0016407 oligomeganephronia Orphanet:2260 MONDO:equivalentTo Oligomeganephronia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligomeganephronia -MONDO:0016408 permanent congenital hypothyroidism Orphanet:226292 MONDO:equivalentTo Permanent congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label permanent congenital hypothyroidism -MONDO:0016410 central congenital hypothyroidism Orphanet:226298 MONDO:equivalentTo Central congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central congenital hypothyroidism -MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function Orphanet:226307 MONDO:equivalentTo Hypothyroidism due to deficient transcription factors involved in pituitary development or function semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothyroidism due to deficient transcription factors involved in pituitary development or function -MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs Orphanet:226313 MONDO:equivalentTo Congenital hypothyroidism due to maternal intake of antithyroid drugs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypothyroidism due to maternal intake of antithyroid drugs -MONDO:0016414 hypotrichosis-intellectual disability, Lopes type Orphanet:2266 MONDO:equivalentTo Hypotrichosis-intellectual disability, Lopes type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-intellectual disability, lopes type -MONDO:0016416 diphallia Orphanet:227 MONDO:equivalentTo Diphallia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphallia -MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome Orphanet:2271 MONDO:equivalentTo Congenital ichthyosis-microcephalus-tetraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ichthyosis-microcephalus-tetraplegia syndrome -MONDO:0016418 multiple system atrophy, cerebellar type Orphanet:227510 MONDO:equivalentTo Multiple system atrophy, cerebellar type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy, cerebellar type -MONDO:0016421 toxic oil syndrome Orphanet:227972 MONDO:equivalentTo Toxic oil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic oil syndrome -MONDO:0016422 autoimmune polyendocrinopathy type 3 Orphanet:227982 MONDO:equivalentTo Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 3 -MONDO:0016423 autoimmune polyendocrinopathy type 4 Orphanet:227990 MONDO:equivalentTo Autoimmune polyendocrinopathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy type 4 -MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Orphanet:228012 MONDO:equivalentTo Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome -MONDO:0016425 Hughes-Stovin syndrome Orphanet:228116 MONDO:equivalentTo Hughes-Stovin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hughes-stovin syndrome -MONDO:0016426 fusariosis Orphanet:228119 MONDO:equivalentTo Fusariosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fusariosis -MONDO:0016429 Marburg acute multiple sclerosis Orphanet:228157 MONDO:equivalentTo Marburg acute multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marburg acute multiple sclerosis -MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M Orphanet:228179 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2m -MONDO:0016432 heart-hand syndrome Orphanet:228184 MONDO:equivalentTo Heart-hand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart-hand syndrome -MONDO:0016437 late-onset focal dermal elastosis Orphanet:228227 MONDO:equivalentTo Late-onset focal dermal elastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset focal dermal elastosis -MONDO:0016439 elastoderma Orphanet:228240 MONDO:equivalentTo Elastoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastoderma -MONDO:0016440 elastofibroma dorsi Orphanet:228243 MONDO:equivalentTo Elastofibroma dorsi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastofibroma dorsi -MONDO:0016441 acquired pseudoxanthoma elasticum Orphanet:228247 MONDO:equivalentTo Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired pseudoxanthoma elasticum -MONDO:0016442 elastoma Orphanet:228254 MONDO:equivalentTo Elastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastoma -MONDO:0016443 papular elastorrhexis Orphanet:228264 MONDO:equivalentTo Papular elastorrhexis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular elastorrhexis -MONDO:0016444 primary anetoderma Orphanet:228272 MONDO:equivalentTo Primary anetoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary anetoderma -MONDO:0016445 familial anetoderma Orphanet:228277 MONDO:equivalentTo Familial anetoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial anetoderma -MONDO:0016446 acquired cutis laxa Orphanet:228285 MONDO:equivalentTo Acquired cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cutis laxa -MONDO:0016447 white fibrous papulosis of the neck Orphanet:228290 MONDO:equivalentTo White fibrous papulosis of the neck semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white fibrous papulosis of the neck -MONDO:0016448 pseudoxanthoma elasticum-like papillary dermal elastolysis Orphanet:228293 MONDO:equivalentTo Pseudoxanthoma elasticum-like papillary dermal elastolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthoma elasticum-like papillary dermal elastolysis -MONDO:0016449 mid-dermal elastolysis Orphanet:228299 MONDO:equivalentTo Mid-dermal elastolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mid-dermal elastolysis -MONDO:0016450 autoimmune hemolytic anemia, cold type Orphanet:228312 MONDO:equivalentTo Autoimmune hemolytic anemia, cold type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia, cold type -MONDO:0016453 foodborne botulism Orphanet:228371 MONDO:equivalentTo Foodborne botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foodborne botulism -MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 Orphanet:228374 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2b5 -MONDO:0016455 virus-associated trichodysplasia spinulosa Orphanet:228379 MONDO:equivalentTo Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label virus-associated trichodysplasia spinulosa -MONDO:0016456 5q14.3 microdeletion syndrome Orphanet:228384 MONDO:equivalentTo 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5q14.3 microdeletion syndrome -MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Orphanet:228396 MONDO:equivalentTo Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome -MONDO:0016458 8q12 microduplication syndrome Orphanet:228399 MONDO:equivalentTo 8q12 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8q12 microduplication syndrome -MONDO:0016459 2q23.1 microdeletion syndrome Orphanet:228402 MONDO:equivalentTo 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q23.1 microdeletion syndrome -MONDO:0016460 polyvalvular heart disease syndrome Orphanet:228410 MONDO:equivalentTo Polyvalvular heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyvalvular heart disease syndrome -MONDO:0016461 5q35 microduplication syndrome Orphanet:228415 MONDO:equivalentTo 5q35 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 5q35 microduplication syndrome -MONDO:0016462 isolated agammaglobulinemia Orphanet:229717 MONDO:equivalentTo Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated agammaglobulinemia -MONDO:0016463 syndromic agammaglobulinemia Orphanet:229720 MONDO:equivalentTo Syndromic agammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic agammaglobulinemia -MONDO:0016464 insulin-resistance syndrome type B Orphanet:2298 MONDO:equivalentTo Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin-resistance syndrome type b -MONDO:0016467 isotretinoin syndrome Orphanet:2305 MONDO:equivalentTo Isotretinoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isotretinoin syndrome -MONDO:0016468 toxin-mediated infectious botulism Orphanet:230800 MONDO:equivalentTo Toxin-mediated infectious botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxin-mediated infectious botulism -MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome Orphanet:230857 MONDO:equivalentTo Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos/osteogenesis imperfecta syndrome -MONDO:0016471 pachyonychia congenita Orphanet:2309 MONDO:equivalentTo Pachyonychia congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachyonychia congenita -MONDO:0016472 dracunculiasis Orphanet:231 MONDO:equivalentTo Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis -MONDO:0016474 drug-induced lupus erythematosus Orphanet:231111 MONDO:equivalentTo Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced lupus erythematosus -MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Orphanet:231117 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to imprinting defect of 11p15 -MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation Orphanet:231120 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to cdkn1c mutation -MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Orphanet:231127 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to 11p15 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 microdeletion -MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Orphanet:231130 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 translocation/inversion -MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication Orphanet:231137 MONDO:equivalentTo Silver-Russell syndrome due to 7p11.2p13 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to 7p11.2p13 microduplication -MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 Orphanet:231140 MONDO:equivalentTo Silver-Russell syndrome due to an imprinting defect of 11p15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to an imprinting defect of 11p15 -MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication Orphanet:231144 MONDO:equivalentTo Silver-Russell syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to 11p15 microduplication -MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Orphanet:231147 MONDO:equivalentTo Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to maternal uniparental disomy of chromosome 11 -MONDO:0016484 Usher syndrome type 2 Orphanet:231178 MONDO:equivalentTo Usher syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 2 -MONDO:0016485 Usher syndrome type 3 Orphanet:231183 MONDO:equivalentTo Usher syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome type 3 -MONDO:0016486 beta-thalassemia major Orphanet:231214 MONDO:equivalentTo Beta-thalassemia major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia major -MONDO:0016487 beta-thalassemia intermedia Orphanet:231222 MONDO:equivalentTo Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia intermedia -MONDO:0016489 delta-beta-thalassemia Orphanet:231237 MONDO:equivalentTo Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label delta-beta-thalassemia -MONDO:0016490 hemoglobin C-beta-thalassemia syndrome Orphanet:231242 MONDO:equivalentTo Hemoglobin C-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin c-beta-thalassemia syndrome -MONDO:0016491 hemoglobin E-beta-thalassemia syndrome Orphanet:231249 MONDO:equivalentTo Hemoglobin E-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin e-beta-thalassemia syndrome -MONDO:0016498 acute pure sensory neuropathy Orphanet:231450 MONDO:equivalentTo Acute pure sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pure sensory neuropathy -MONDO:0016499 acute pandysautonomia Orphanet:231457 MONDO:equivalentTo Acute pandysautonomia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pandysautonomia -MONDO:0016500 acute sensory ataxic neuropathy Orphanet:231466 MONDO:equivalentTo Acute sensory ataxic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sensory ataxic neuropathy -MONDO:0016503 congenital erosive and vesicular dermatosis Orphanet:231573 MONDO:equivalentTo Congenital erosive and vesicular dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital erosive and vesicular dermatosis -MONDO:0016504 primary unilateral adrenal hyperplasia Orphanet:231580 MONDO:equivalentTo Primary unilateral adrenal hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary unilateral adrenal hyperplasia -MONDO:0016506 ectopic aldosterone-producing tumor Orphanet:231632 MONDO:equivalentTo Ectopic aldosterone-producing tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic aldosterone-producing tumor -MONDO:0016509 microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome Orphanet:231736 MONDO:equivalentTo Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome -MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome Orphanet:231742 MONDO:equivalentTo Epibulbar lipodermoid-preauricular appendage-polythelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epibulbar lipodermoid-preauricular appendage-polythelia syndrome -MONDO:0016511 infectious embryofetopathy Orphanet:232035 MONDO:equivalentTo Infectious embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious embryofetopathy -MONDO:0016512 Kabuki syndrome Orphanet:2322 MONDO:equivalentTo Kabuki syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kabuki syndrome -MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia Orphanet:2325 MONDO:equivalentTo Epidermolysis bullosa simplex with anodontia/hypodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex with anodontia/hypodontia -MONDO:0016515 Kallmann syndrome-heart disease syndrome Orphanet:2326 MONDO:equivalentTo Kallmann syndrome-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kallmann syndrome-heart disease syndrome -MONDO:0016516 Kenny-Caffey syndrome Orphanet:2333 MONDO:equivalentTo Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kenny-caffey syndrome -MONDO:0016520 isolated Klippel-Feil syndrome Orphanet:2345 MONDO:equivalentTo Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated klippel-feil syndrome -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome Orphanet:2349 MONDO:equivalentTo Muscular pseudohypertrophy-hypothyroidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular pseudohypertrophy-hypothyroidism syndrome -MONDO:0016522 Kousseff syndrome Orphanet:2351 MONDO:equivalentTo Kousseff syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kousseff syndrome -MONDO:0016523 bronchogenic cyst Orphanet:2357 MONDO:equivalentTo Bronchogenic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchogenic cyst -MONDO:0016524 congenital vascular bone syndrome Orphanet:235832 MONDO:equivalentTo Congenital vascular bone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vascular bone syndrome -MONDO:0016525 familial hyperaldosteronism Orphanet:235936 MONDO:equivalentTo Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperaldosteronism -MONDO:0016526 trisomy 9p Orphanet:236 MONDO:equivalentTo Trisomy 9p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 9p -MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency Orphanet:2364 MONDO:equivalentTo Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to lactate dehydrogenase deficiency -MONDO:0016528 limb body wall complex Orphanet:2369 MONDO:equivalentTo Limb body wall complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb body wall complex -MONDO:0016529 duplication of urethra Orphanet:237 MONDO:equivalentTo Duplication of urethra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duplication of urethra -MONDO:0016530 laryngocele Orphanet:2372 MONDO:equivalentTo Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele -MONDO:0016531 digestive duplication Orphanet:238 MONDO:equivalentTo Digestive duplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive duplication -MONDO:0016532 Lennox-Gastaut syndrome Orphanet:2382 MONDO:equivalentTo Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lennox-gastaut syndrome -MONDO:0016534 infundibulo-neurohypophysitis Orphanet:238305 MONDO:equivalentTo Infundibulo-neurohypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infundibulo-neurohypophysitis -MONDO:0016535 hypohidrotic ectodermal dysplasia Orphanet:238468 MONDO:equivalentTo Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypohidrotic ectodermal dysplasia -MONDO:0016537 lymphoproliferative syndrome Orphanet:238510 MONDO:equivalentTo Lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoproliferative syndrome -MONDO:0016539 atypical hypotonia-cystinuria syndrome Orphanet:238523 MONDO:equivalentTo Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical hypotonia-cystinuria syndrome -MONDO:0016540 congenital secondary polycythemia Orphanet:238536 MONDO:equivalentTo Congenital secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital secondary polycythemia -MONDO:0016541 acquired secondary polycythemia Orphanet:238547 MONDO:equivalentTo Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired secondary polycythemia -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Orphanet:238569 MONDO:equivalentTo Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency Orphanet:238583 MONDO:equivalentTo Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphenylalaninemia due to tetrahydrobiopterin deficiency -MONDO:0016544 IgG4-related mesenteritis Orphanet:238593 MONDO:equivalentTo IgG4-related mesenteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related mesenteritis -MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome Orphanet:2386 MONDO:equivalentTo Leukoencephalopathy-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoencephalopathy-palmoplantar keratoderma syndrome -MONDO:0016546 primary orthostatic tremor Orphanet:238606 MONDO:equivalentTo Primary orthostatic tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary orthostatic tremor -MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation Orphanet:238613 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to nsd1 mutation -MONDO:0016548 megacystis-megaureter syndrome Orphanet:238637 MONDO:equivalentTo Megacystis-megaureter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-megaureter syndrome -MONDO:0016549 primary megaureter, adult-onset form Orphanet:238642 MONDO:equivalentTo Primary megaureter, adult-onset form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary megaureter, adult-onset form -MONDO:0016550 congenital primary megaureter, obstructed form Orphanet:238646 MONDO:equivalentTo Congenital primary megaureter, obstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, obstructed form -MONDO:0016551 congenital primary megaureter, refluxing form Orphanet:238650 MONDO:equivalentTo Congenital primary megaureter, refluxing form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, refluxing form -MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form Orphanet:238654 MONDO:equivalentTo Congenital primary megaureter, nonrefluxing and unobstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, nonrefluxing and unobstructed form -MONDO:0016553 isolated congenital hypogonadotropic hypogonadism Orphanet:238666 MONDO:equivalentTo Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypogonadotropic hypogonadism -MONDO:0016554 neonatal iodine exposure Orphanet:238688 MONDO:equivalentTo Neonatal iodine exposure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal iodine exposure -MONDO:0016555 transient congenital hypothyroidism due to maternal factor Orphanet:238696 MONDO:equivalentTo Transient congenital hypothyroidism due to maternal factor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism due to maternal factor -MONDO:0016556 transient congenital hypothyroidism due to neonatal factor Orphanet:238699 MONDO:equivalentTo Transient congenital hypothyroidism due to neonatal factor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient congenital hypothyroidism due to neonatal factor -MONDO:0016557 leukonychia totalis Orphanet:2387 MONDO:equivalentTo Leukonychia totalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukonychia totalis -MONDO:0016558 familial congenital mirror movements Orphanet:238722 MONDO:equivalentTo Familial congenital mirror movements semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial congenital mirror movements -MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea Orphanet:238763 MONDO:equivalentTo Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma secondary to spherophakia/ectopia lentis and megalocornea -MONDO:0016561 1q44 microdeletion syndrome Orphanet:238769 MONDO:equivalentTo 1q44 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1q44 microdeletion syndrome -MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome Orphanet:240094 MONDO:equivalentTo Progressive supranuclear palsy-pure akinesia with gait freezing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-pure akinesia with gait freezing syndrome -MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome Orphanet:240103 MONDO:equivalentTo Progressive supranuclear palsy-corticobasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-corticobasal syndrome -MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome Orphanet:240112 MONDO:equivalentTo Progressive supranuclear palsy-progressive non-fluent aphasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy-progressive non-fluent aphasia syndrome -MONDO:0016566 loiasis Orphanet:2404 MONDO:equivalentTo Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis -MONDO:0016567 locked-in syndrome Orphanet:2406 MONDO:equivalentTo Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome -MONDO:0016568 Lowe-Kohn-Cohen syndrome Orphanet:2408 MONDO:equivalentTo Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lowe-kohn-cohen syndrome -MONDO:0016570 primary pulmonary lymphoma Orphanet:2420 MONDO:equivalentTo Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary lymphoma -MONDO:0016571 macrocephaly-short stature-paraplegia syndrome Orphanet:2427 MONDO:equivalentTo Macrocephaly-short stature-paraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocephaly-short stature-paraplegia syndrome -MONDO:0016573 acute fatty liver of pregnancy Orphanet:243367 MONDO:equivalentTo Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute fatty liver of pregnancy -MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Orphanet:2435 MONDO:equivalentTo Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome -MONDO:0016575 primary ciliary dyskinesia Orphanet:244 MONDO:equivalentTo Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ciliary dyskinesia -MONDO:0016577 biliary atresia with splenic malformation syndrome Orphanet:244283 MONDO:equivalentTo Biliary atresia with splenic malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biliary atresia with splenic malformation syndrome -MONDO:0016580 congenital pulmonary airway malformation Orphanet:2444 MONDO:equivalentTo Congenital pulmonary airway malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation -MONDO:0016581 conotruncal heart malformations Orphanet:2445 MONDO:equivalentTo Conotruncal heart malformations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conotruncal heart malformations -MONDO:0016582 congenital mitral malformation Orphanet:2447 MONDO:equivalentTo Congenital mitral malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral malformation -MONDO:0016584 mandibuloacral dysplasia Orphanet:2457 MONDO:equivalentTo Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibuloacral dysplasia -MONDO:0016586 systemic mastocytosis Orphanet:2467 MONDO:equivalentTo Systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic mastocytosis -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy Orphanet:247 MONDO:equivalentTo Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arrhythmogenic right ventricular cardiomyopathy -MONDO:0016588 infantile mercury poisoning Orphanet:247165 MONDO:equivalentTo Infantile mercury poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile mercury poisoning -MONDO:0016589 progressive cerebello-cerebral atrophy Orphanet:247198 MONDO:equivalentTo Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive cerebello-cerebral atrophy -MONDO:0016591 sporadic adult-onset ataxia of unknown etiology Orphanet:247234 MONDO:equivalentTo Sporadic adult-onset ataxia of unknown etiology semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic adult-onset ataxia of unknown etiology -MONDO:0016593 acquired ataxia Orphanet:247242 MONDO:equivalentTo Acquired ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ataxia -MONDO:0016594 superficial siderosis Orphanet:247245 MONDO:equivalentTo Superficial siderosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial siderosis -MONDO:0016595 inhalational anthrax Orphanet:247257 MONDO:equivalentTo Inhalational anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inhalational anthrax -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome Orphanet:247262 MONDO:equivalentTo Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphosphatasia-intellectual disability syndrome -MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene Orphanet:247378 MONDO:equivalentTo Autosomal recessive secondary polycythemia not associated with VHL gene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive secondary polycythemia not associated with vhl gene -MONDO:0016600 acute neonatal citrullinemia type I Orphanet:247546 MONDO:equivalentTo Acute neonatal citrullinemia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute neonatal citrullinemia type i -MONDO:0016602 citrin deficiency Orphanet:247582 MONDO:equivalentTo Citrin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrin deficiency -MONDO:0016603 citrullinemia type II Orphanet:247585 MONDO:equivalentTo Citrullinemia type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia type ii -MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome Orphanet:2476 MONDO:equivalentTo Dysraphism-cleft lip/palate-limb reduction defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysraphism-cleft lip/palate-limb reduction defects syndrome -MONDO:0016605 perinatal lethal hypophosphatasia Orphanet:247623 MONDO:equivalentTo Perinatal lethal hypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal lethal hypophosphatasia -MONDO:0016607 odontohypophosphatasia Orphanet:247685 MONDO:equivalentTo Odontohypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontohypophosphatasia -MONDO:0016608 megalencephaly Orphanet:2477 MONDO:equivalentTo Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly -MONDO:0016609 inflammatory myopathy with abundant macrophages Orphanet:247718 MONDO:equivalentTo Inflammatory myopathy with abundant macrophages semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory myopathy with abundant macrophages -MONDO:0016610 idiopathic eosinophilic myositis Orphanet:247724 MONDO:equivalentTo Idiopathic eosinophilic myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic eosinophilic myositis -MONDO:0016611 lipoblastoma Orphanet:247762 MONDO:equivalentTo Lipoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lipoblastoma -MONDO:0016612 X-linked cerebellar ataxia Orphanet:247765 MONDO:equivalentTo X-linked cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked cerebellar ataxia -MONDO:0016613 APC-related attenuated familial adenomatous polyposis Orphanet:247806 MONDO:equivalentTo APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apc-related attenuated familial adenomatous polyposis -MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency Orphanet:247815 MONDO:equivalentTo Autosomal recessive ataxia due to PEX10 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex10 deficiency -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia Orphanet:248 MONDO:equivalentTo Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hypohidrotic ectodermal dysplasia -MONDO:0016620 primary hypertrophic osteoarthropathy Orphanet:248095 MONDO:equivalentTo Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypertrophic osteoarthropathy -MONDO:0016621 juvenile Huntington disease Orphanet:248111 MONDO:equivalentTo Juvenile Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile huntington disease -MONDO:0016622 Melhem-Fahl syndrome Orphanet:2482 MONDO:equivalentTo Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melhem-fahl syndrome -MONDO:0016630 isolated delta-storage pool disease Orphanet:248340 MONDO:equivalentTo Isolated delta-storage pool disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated delta-storage pool disease -MONDO:0016638 familial hypodysfibrinogenemia Orphanet:248408 MONDO:equivalentTo Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypodysfibrinogenemia -MONDO:0016642 meningioma Orphanet:2495 MONDO:equivalentTo Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningioma -MONDO:0016643 frontonasal dysplasia Orphanet:250 MONDO:equivalentTo Frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia -MONDO:0016644 logopenic progressive aphasia Orphanet:250831 MONDO:equivalentTo Logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia -MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy Orphanet:250932 MONDO:equivalentTo Autosomal dominant optic atrophy and peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy and peripheral neuropathy -MONDO:0016648 multiple epiphyseal dysplasia Orphanet:251 MONDO:equivalentTo Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia -MONDO:0016650 paternal uniparental disomy of chromosome 1 Orphanet:251004 MONDO:equivalentTo Paternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 1 -MONDO:0016651 maternal uniparental disomy of chromosome 1 Orphanet:251009 MONDO:equivalentTo Maternal uniparental disomy of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 1 -MONDO:0016652 2q31.1 microdeletion syndrome Orphanet:251014 MONDO:equivalentTo 2q31.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q31.1 microdeletion syndrome -MONDO:0016655 6p22 microdeletion syndrome Orphanet:251046 MONDO:equivalentTo 6p22 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6p22 microdeletion syndrome -MONDO:0016656 7q31 microdeletion syndrome Orphanet:251061 MONDO:equivalentTo 7q31 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7q31 microdeletion syndrome -MONDO:0016657 8p11.2 deletion syndrome Orphanet:251066 MONDO:equivalentTo 8p11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p11.2 deletion syndrome -MONDO:0016658 8p23.1 microdeletion syndrome Orphanet:251071 MONDO:equivalentTo 8p23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p23.1 microdeletion syndrome -MONDO:0016659 8p23.1 duplication syndrome Orphanet:251076 MONDO:equivalentTo 8p23.1 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p23.1 duplication syndrome -MONDO:0016660 autosomal recessive primary microcephaly Orphanet:2512 MONDO:equivalentTo Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive primary microcephaly -MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis Orphanet:251304 MONDO:equivalentTo Infantile onset panniculitis with uveitis and systemic granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile onset panniculitis with uveitis and systemic granulomatosis -MONDO:0016662 idiopathic recurrent pericarditis Orphanet:251307 MONDO:equivalentTo Idiopathic recurrent pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic recurrent pericarditis -MONDO:0016663 overlapping connective tissue disease Orphanet:251312 MONDO:equivalentTo Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overlapping connective tissue disease -MONDO:0016664 drug-induced vasculitis Orphanet:251325 MONDO:equivalentTo Drug-induced vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced vasculitis -MONDO:0016666 unexplained long-lasting fever/inflammatory syndrome Orphanet:251332 MONDO:equivalentTo Unexplained long-lasting fever/inflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unexplained long-lasting fever/inflammatory syndrome -MONDO:0016668 sickle cell-beta-thalassemia disease syndrome Orphanet:251359 MONDO:equivalentTo Sickle cell-beta-thalassemia disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-beta-thalassemia disease syndrome -MONDO:0016669 sickle cell-hemoglobin c disease syndrome Orphanet:251365 MONDO:equivalentTo Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin c disease syndrome -MONDO:0016670 sickle cell-hemoglobin d disease syndrome Orphanet:251370 MONDO:equivalentTo Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin d disease syndrome -MONDO:0016671 sickle cell-hemoglobin E disease syndrome Orphanet:251375 MONDO:equivalentTo Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sickle cell-hemoglobin e disease syndrome -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Orphanet:251380 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-sickle cell disease syndrome -MONDO:0016674 46,XY partial gonadal dysgenesis Orphanet:251510 MONDO:equivalentTo 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 46,xy partial gonadal dysgenesis -MONDO:0016675 distal arthrogryposis type 10 Orphanet:251515 MONDO:equivalentTo Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis type 10 -MONDO:0016677 toxic or drug-related embryofetopathy Orphanet:251529 MONDO:equivalentTo Toxic or drug-related embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic or drug-related embryofetopathy -MONDO:0016678 maternal disease-related embryofetopathy Orphanet:251535 MONDO:equivalentTo Maternal disease-related embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal disease-related embryofetopathy -MONDO:0016681 gliosarcoma Orphanet:251576 MONDO:equivalentTo Gliosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gliosarcoma -MONDO:0016682 giant cell glioblastoma Orphanet:251579 MONDO:equivalentTo Giant cell glioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant cell glioblastoma -MONDO:0016683 gliomatosis cerebri Orphanet:251582 MONDO:equivalentTo Gliomatosis cerebri semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gliomatosis cerebri -MONDO:0016684 anaplastic astrocytoma Orphanet:251589 MONDO:equivalentTo Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic astrocytoma -MONDO:0016685 low-grade astrocytoma Orphanet:251592 MONDO:equivalentTo Low-grade astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label low-grade astrocytoma -MONDO:0016686 diffuse astrocytoma Orphanet:251595 MONDO:equivalentTo Diffuse astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse astrocytoma -MONDO:0016687 protoplasmic astrocytoma Orphanet:251598 MONDO:equivalentTo Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protoplasmic astrocytoma -MONDO:0016688 fibrillary astrocytoma Orphanet:251601 MONDO:equivalentTo Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrillary astrocytoma -MONDO:0016689 gemistocytic astrocytoma Orphanet:251604 MONDO:equivalentTo Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gemistocytic astrocytoma -MONDO:0016690 pleomorphic xanthoastrocytoma Orphanet:251607 MONDO:equivalentTo Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic xanthoastrocytoma -MONDO:0016691 pilocytic astrocytoma Orphanet:251612 MONDO:equivalentTo Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilocytic astrocytoma -MONDO:0016692 pilomyxoid astrocytoma Orphanet:251615 MONDO:equivalentTo Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pilomyxoid astrocytoma -MONDO:0016693 subependymal giant cell astrocytoma Orphanet:251618 MONDO:equivalentTo Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subependymal giant cell astrocytoma -MONDO:0016695 oligodendroglioma Orphanet:251627 MONDO:equivalentTo Oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodendroglioma -MONDO:0016696 anaplastic oligodendroglioma Orphanet:251630 MONDO:equivalentTo Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligodendroglioma -MONDO:0016698 ependymoma Orphanet:251636 MONDO:equivalentTo Ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymoma -MONDO:0016699 myxopapillary ependymoma Orphanet:251643 MONDO:equivalentTo Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxopapillary ependymoma -MONDO:0016700 anaplastic ependymoma Orphanet:251646 MONDO:equivalentTo Anaplastic ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ependymoma -MONDO:0016702 oligoastrocytoma Orphanet:251656 MONDO:equivalentTo Oligoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligoastrocytoma -MONDO:0016703 anaplastic oligoastrocytoma Orphanet:251663 MONDO:equivalentTo Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic oligoastrocytoma -MONDO:0016705 angiocentric glioma Orphanet:251671 MONDO:equivalentTo Angiocentric glioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiocentric glioma -MONDO:0016707 astroblastoma Orphanet:251679 MONDO:equivalentTo Astroblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astroblastoma -MONDO:0016709 anaplastic/large cell medulloblastoma Orphanet:251855 MONDO:equivalentTo Anaplastic/large cell medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic/large cell medulloblastoma -MONDO:0016710 medulloblastoma with extensive nodularity Orphanet:251858 MONDO:equivalentTo Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medulloblastoma with extensive nodularity -MONDO:0016711 desmoplastic/nodular medulloblastoma Orphanet:251863 MONDO:equivalentTo Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic/nodular medulloblastoma -MONDO:0016712 classic medulloblastoma Orphanet:251867 MONDO:equivalentTo Classic medulloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic medulloblastoma -MONDO:0016715 ependymoblastoma Orphanet:251880 MONDO:equivalentTo Ependymoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ependymoblastoma -MONDO:0016718 choroid plexus carcinoma Orphanet:251899 MONDO:equivalentTo Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choroid plexus carcinoma -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome Orphanet:2519 MONDO:equivalentTo Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-seizures-intellectual disability-heart disease syndrome -MONDO:0016722 pineoblastoma Orphanet:251909 MONDO:equivalentTo Pineoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineoblastoma -MONDO:0016723 pineocytoma Orphanet:251912 MONDO:equivalentTo Pineocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineocytoma -MONDO:0016724 papillary tumor of the pineal region Orphanet:251915 MONDO:equivalentTo Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary tumor of the pineal region -MONDO:0016725 pineal parenchymal tumor of intermediate differenciation Orphanet:251919 MONDO:equivalentTo Pineal parenchymal tumor of intermediate differenciation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pineal parenchymal tumor of intermediate differenciation -MONDO:0016727 extraventricular neurocytoma Orphanet:251927 MONDO:equivalentTo Extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma -MONDO:0016729 mixed neuronal-glial tumor Orphanet:251934 MONDO:equivalentTo Mixed neuronal-glial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed neuronal-glial tumor -MONDO:0016730 gangliocytoma Orphanet:251937 MONDO:equivalentTo Gangliocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gangliocytoma -MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma Orphanet:251940 MONDO:equivalentTo Desmoplastic infantile astrocytoma/ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic infantile astrocytoma/ganglioglioma -MONDO:0016733 ganglioglioma Orphanet:251949 MONDO:equivalentTo Ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ganglioglioma -MONDO:0016734 anaplastic ganglioglioma Orphanet:251957 MONDO:equivalentTo Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic ganglioglioma -MONDO:0016735 papillary glioneuronal tumor Orphanet:251962 MONDO:equivalentTo Papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor -MONDO:0016739 yolk sac tumor of central nervous system Orphanet:252006 MONDO:equivalentTo Yolk sac tumor of central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yolk sac tumor of central nervous system -MONDO:0016740 choriocarcinoma of the central nervous system Orphanet:252015 MONDO:equivalentTo Choriocarcinoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choriocarcinoma of the central nervous system -MONDO:0016742 mixed germ cell tumor of central nervous system Orphanet:252021 MONDO:equivalentTo Mixed germ cell tumor of central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed germ cell tumor of central nervous system -MONDO:0016743 tumor of meninges Orphanet:252025 MONDO:equivalentTo Tumor of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor of meninges -MONDO:0016745 diffuse leptomeningeal melanocytosis Orphanet:252031 MONDO:equivalentTo Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse leptomeningeal melanocytosis -MONDO:0016746 meningeal melanocytoma Orphanet:252046 MONDO:equivalentTo Meningeal melanocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningeal melanocytoma -MONDO:0016747 primary melanoma of the central nervous system Orphanet:252050 MONDO:equivalentTo Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary melanoma of the central nervous system -MONDO:0016748 hemangioblastoma Orphanet:252054 MONDO:equivalentTo Hemangioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemangioblastoma -MONDO:0016749 tumor of cranial and spinal nerves Orphanet:252057 MONDO:equivalentTo Tumor of cranial and spinal nerves semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tumor of cranial and spinal nerves -MONDO:0016752 benign peripheral nerve sheath tumor Orphanet:252131 MONDO:equivalentTo Benign peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign peripheral nerve sheath tumor -MONDO:0016755 neurofibroma Orphanet:252183 MONDO:equivalentTo Neurofibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibroma -MONDO:0016757 malignant triton tumor Orphanet:252212 MONDO:equivalentTo Malignant triton tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant triton tumor -MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome Orphanet:2523 MONDO:equivalentTo Microcephaly-brain defect-spasticity-hypernatremia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-brain defect-spasticity-hypernatremia syndrome -MONDO:0016759 pontocerebellar hypoplasia type 2 Orphanet:2524 MONDO:equivalentTo Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontocerebellar hypoplasia type 2 -MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type Orphanet:2528 MONDO:equivalentTo Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-microcornea syndrome, seemanova type -MONDO:0016763 spondylometaphyseal dysplasia Orphanet:254 MONDO:equivalentTo Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylometaphyseal dysplasia -MONDO:0016765 19p13.12 microdeletion syndrome Orphanet:254346 MONDO:equivalentTo 19p13.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 19p13.12 microdeletion syndrome -MONDO:0016769 linear lichen planus Orphanet:254379 MONDO:equivalentTo Linear lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear lichen planus -MONDO:0016770 actinic lichen planus Orphanet:254395 MONDO:equivalentTo Actinic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic lichen planus -MONDO:0016771 annular atrophic lichen planus Orphanet:254411 MONDO:equivalentTo Annular atrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular atrophic lichen planus -MONDO:0016772 annular lichen planus Orphanet:254424 MONDO:equivalentTo Annular lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular lichen planus -MONDO:0016773 atrophic lichen planus Orphanet:254449 MONDO:equivalentTo Atrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophic lichen planus -MONDO:0016774 lichen planus pigmentosus Orphanet:254463 MONDO:equivalentTo Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus pigmentosus -MONDO:0016775 lichen planus pemphigoides Orphanet:254478 MONDO:equivalentTo Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus pemphigoides -MONDO:0016776 frontal fibrosing alopecia Orphanet:254492 MONDO:equivalentTo Frontal fibrosing alopecia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal fibrosing alopecia -MONDO:0016777 inhalational botulism Orphanet:254504 MONDO:equivalentTo Inhalational botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inhalational botulism -MONDO:0016778 iatrogenic botulism Orphanet:254509 MONDO:equivalentTo Iatrogenic botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iatrogenic botulism -MONDO:0016785 complete hydatidiform mole Orphanet:254688 MONDO:equivalentTo Complete hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hydatidiform mole -MONDO:0016786 partial hydatidiform mole Orphanet:254693 MONDO:equivalentTo Partial hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial hydatidiform mole -MONDO:0016787 epithelioid trophoblastic tumor Orphanet:254698 MONDO:equivalentTo Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid trophoblastic tumor -MONDO:0016789 pyruvate metabolism disorder Orphanet:254746 MONDO:equivalentTo Pyruvate metabolism disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate metabolism disorder -MONDO:0016790 tricarboxylic acid cycle disorder Orphanet:254749 MONDO:equivalentTo Tricarboxylic acid cycle disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricarboxylic acid cycle disorder -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form Orphanet:254803 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form -MONDO:0016798 ataxia neuropathy spectrum Orphanet:254818 MONDO:equivalentTo Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia neuropathy spectrum -MONDO:0016800 mitochondrial membrane transport disorder Orphanet:254827 MONDO:equivalentTo Mitochondrial membrane transport disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial membrane transport disorder -MONDO:0016801 mitochondrial substrate carrier disorder Orphanet:254830 MONDO:equivalentTo Mitochondrial substrate carrier disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial substrate carrier disorder -MONDO:0016802 mitochondrial protein import disorder Orphanet:254834 MONDO:equivalentTo Mitochondrial protein import disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial protein import disorder -MONDO:0016807 pure mitochondrial myopathy Orphanet:254854 MONDO:equivalentTo Pure mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure mitochondrial myopathy -MONDO:0016809 spinocerebellar ataxia with epilepsy Orphanet:254881 MONDO:equivalentTo Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia with epilepsy -MONDO:0016810 autosomal recessive progressive external ophthalmoplegia Orphanet:254886 MONDO:equivalentTo Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive progressive external ophthalmoplegia -MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome Orphanet:254902 MONDO:equivalentTo Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubulopathy-encephalopathy-liver failure syndrome -MONDO:0016812 dopa-responsive dystonia Orphanet:255 MONDO:equivalentTo Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dopa-responsive dystonia -MONDO:0016818 Mikati-Najjar-Sahli syndrome Orphanet:2558 MONDO:equivalentTo Mikati-Najjar-Sahli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mikati-najjar-sahli syndrome -MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Orphanet:2560 MONDO:equivalentTo Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome -MONDO:0016820 Moyamoya disease Orphanet:2573 MONDO:equivalentTo Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan Orphanet:2582 MONDO:equivalentTo Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myalgia-eosinophilia syndrome associated with tryptophan -MONDO:0016823 mycetoma Orphanet:2583 MONDO:equivalentTo Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma -MONDO:0016824 infantile myofibromatosis Orphanet:2591 MONDO:equivalentTo Infantile myofibromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile myofibromatosis -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome Orphanet:2597 MONDO:equivalentTo Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy-lactic acidosis-deafness syndrome -MONDO:0016828 autosomal recessive sideroblastic anemia Orphanet:260305 MONDO:equivalentTo Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive sideroblastic anemia -MONDO:0016829 familial visceral myopathy Orphanet:2604 MONDO:equivalentTo Familial visceral myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial visceral myopathy -MONDO:0016830 Emery-Dreifuss muscular dystrophy Orphanet:261 MONDO:equivalentTo Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emery-dreifuss muscular dystrophy -MONDO:0016831 linear verrucous nevus syndrome Orphanet:2611 MONDO:equivalentTo Linear verrucous nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear verrucous nevus syndrome -MONDO:0016832 distal 7q11.23 microduplication syndrome Orphanet:261102 MONDO:equivalentTo Distal 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 7q11.23 microduplication syndrome -MONDO:0016834 16p11.2p12.2 microduplication syndrome Orphanet:261204 MONDO:equivalentTo 16p11.2p12.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p11.2p12.2 microduplication syndrome -MONDO:0016835 14q11.2 microduplication syndrome Orphanet:261229 MONDO:equivalentTo 14q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q11.2 microduplication syndrome -MONDO:0016836 16p13.11 microdeletion syndrome Orphanet:261236 MONDO:equivalentTo 16p13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p13.11 microdeletion syndrome -MONDO:0016837 16p13.11 microduplication syndrome Orphanet:261243 MONDO:equivalentTo 16p13.11 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p13.11 microduplication syndrome -MONDO:0016838 16q24.3 microdeletion syndrome Orphanet:261250 MONDO:equivalentTo 16q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16q24.3 microdeletion syndrome -MONDO:0016839 distal 17p13.3 microdeletion syndrome Orphanet:261257 MONDO:equivalentTo Distal 17p13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 17p13.3 microdeletion syndrome -MONDO:0016840 trisomy 17p Orphanet:261290 MONDO:equivalentTo Trisomy 17p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 17p -MONDO:0016841 20p12.3 microdeletion syndrome Orphanet:261295 MONDO:equivalentTo 20p12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20p12.3 microdeletion syndrome -MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome Orphanet:261304 MONDO:equivalentTo Paternal 20q13.2q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal 20q13.2q13.3 microdeletion syndrome -MONDO:0016843 20q13.33 microdeletion syndrome Orphanet:261311 MONDO:equivalentTo 20q13.33 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q13.33 microdeletion syndrome -MONDO:0016844 trisomy 20p Orphanet:261318 MONDO:equivalentTo Trisomy 20p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 20p -MONDO:0016845 21q22.11q22.12 microdeletion syndrome Orphanet:261323 MONDO:equivalentTo 21q22.11q22.12 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 21q22.11q22.12 microdeletion syndrome -MONDO:0016846 distal 22q11.2 microduplication syndrome Orphanet:261337 MONDO:equivalentTo Distal 22q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 22q11.2 microduplication syndrome -MONDO:0016847 trisomy 1q Orphanet:261344 MONDO:equivalentTo Trisomy 1q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 1q -MONDO:0016848 juvenile temporal arteritis Orphanet:26137 MONDO:equivalentTo Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile temporal arteritis -MONDO:0016851 maternal uniparental disomy of chromosome X Orphanet:261519 MONDO:equivalentTo Maternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome x -MONDO:0016852 paternal uniparental disomy of chromosome X Orphanet:261524 MONDO:equivalentTo Paternal uniparental disomy of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome x -MONDO:0016854 49,XXXYY syndrome Orphanet:261534 MONDO:equivalentTo 49,XXXYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxyy syndrome -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 Orphanet:261537 MONDO:equivalentTo Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome due to monosomy 2q22 -MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation Orphanet:261552 MONDO:equivalentTo Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mowat-wilson syndrome due to a zeb2 point mutation -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion Orphanet:261584 MONDO:equivalentTo Familial adenomatous polyposis due to 5q22.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial adenomatous polyposis due to 5q22.2 microdeletion -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion Orphanet:261600 MONDO:equivalentTo Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to 20p12 microdeletion -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation Orphanet:261619 MONDO:equivalentTo Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alagille syndrome due to a jag1 point mutation -MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion Orphanet:261638 MONDO:equivalentTo Okihiro syndrome due to 20q13 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label okihiro syndrome due to 20q13 microdeletion -MONDO:0016864 Okihiro syndrome due to a point mutation Orphanet:261647 MONDO:equivalentTo Okihiro syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label okihiro syndrome due to a point mutation -MONDO:0016865 Kleefstra syndrome due to a point mutation Orphanet:261652 MONDO:equivalentTo Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome due to a point mutation -MONDO:0016866 partial deletion of chromosome 1 Orphanet:261766 MONDO:equivalentTo Partial deletion of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 1 -MONDO:0016867 partial deletion of chromosome 2 Orphanet:261771 MONDO:equivalentTo Partial deletion of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 2 -MONDO:0016868 partial deletion of chromosome 3 Orphanet:261776 MONDO:equivalentTo Partial deletion of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 3 -MONDO:0016869 partial deletion of chromosome 4 Orphanet:261781 MONDO:equivalentTo Partial deletion of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 4 -MONDO:0016870 partial deletion of chromosome 5 Orphanet:261786 MONDO:equivalentTo Partial deletion of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 5 -MONDO:0016871 partial deletion of chromosome 6 Orphanet:261791 MONDO:equivalentTo Partial deletion of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 6 -MONDO:0016872 partial deletion of chromosome 7 Orphanet:261796 MONDO:equivalentTo Partial deletion of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 7 -MONDO:0016873 partial deletion of chromosome 8 Orphanet:261801 MONDO:equivalentTo Partial deletion of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 8 -MONDO:0016874 partial deletion of chromosome 9 Orphanet:261806 MONDO:equivalentTo Partial deletion of chromosome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 9 -MONDO:0016875 partial deletion of chromosome 10 Orphanet:261811 MONDO:equivalentTo Partial deletion of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 10 -MONDO:0016876 partial deletion of chromosome 11 Orphanet:261816 MONDO:equivalentTo Partial deletion of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 11 -MONDO:0016877 partial deletion of the long arm of chromosome 12 Orphanet:261821 MONDO:equivalentTo Partial deletion of the long arm of chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 12 -MONDO:0016878 partial deletion of chromosome 16 Orphanet:261826 MONDO:equivalentTo Partial deletion of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 16 -MONDO:0016879 partial deletion of chromosome 17 Orphanet:261831 MONDO:equivalentTo Partial deletion of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 17 -MONDO:0016880 partial deletion of chromosome 18 Orphanet:261836 MONDO:equivalentTo Partial deletion of chromosome 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 18 -MONDO:0016881 partial deletion of chromosome 19 Orphanet:261841 MONDO:equivalentTo Partial deletion of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 19 -MONDO:0016882 partial deletion of chromosome 20 Orphanet:261846 MONDO:equivalentTo Partial deletion of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 20 -MONDO:0016883 partial deletion of the short arm of chromosome 1 Orphanet:261857 MONDO:equivalentTo Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 1 -MONDO:0016884 partial deletion of the short arm of chromosome 2 Orphanet:261866 MONDO:equivalentTo Partial deletion of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 2 -MONDO:0016885 partial deletion of the short arm of chromosome 3 Orphanet:261875 MONDO:equivalentTo Partial deletion of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 3 -MONDO:0016887 partial deletion of the short arm of chromosome 5 Orphanet:261893 MONDO:equivalentTo Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 5 -MONDO:0016888 partial deletion of the short arm of chromosome 6 Orphanet:261902 MONDO:equivalentTo Partial deletion of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 6 -MONDO:0016889 partial deletion of the short arm of chromosome 7 Orphanet:261911 MONDO:equivalentTo Partial deletion of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 7 -MONDO:0016890 partial deletion of the short arm of chromosome 8 Orphanet:261920 MONDO:equivalentTo Partial deletion of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 8 -MONDO:0016892 partial deletion of the short arm of chromosome 10 Orphanet:261938 MONDO:equivalentTo Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 10 -MONDO:0016893 partial deletion of the short arm of chromosome 11 Orphanet:261947 MONDO:equivalentTo Partial deletion of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 11 -MONDO:0016894 partial deletion of the short arm of chromosome 16 Orphanet:261956 MONDO:equivalentTo Partial deletion of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 16 -MONDO:0016897 partial deletion of the short arm of chromosome 19 Orphanet:261983 MONDO:equivalentTo Partial deletion of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the short arm of chromosome 19 -MONDO:0016901 partial deletion of the long arm of chromosome 2 Orphanet:262010 MONDO:equivalentTo Partial deletion of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 2 -MONDO:0016902 partial deletion of the long arm of chromosome 3 Orphanet:262019 MONDO:equivalentTo Partial deletion of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 3 -MONDO:0016903 partial deletion of the long arm of chromosome 4 Orphanet:262029 MONDO:equivalentTo Partial deletion of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 4 -MONDO:0016904 partial deletion of the long arm of chromosome 5 Orphanet:262038 MONDO:equivalentTo Partial deletion of the long arm of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 5 -MONDO:0016905 partial deletion of the long arm of chromosome 6 Orphanet:262047 MONDO:equivalentTo Partial deletion of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 6 -MONDO:0016906 partial deletion of the long arm of chromosome 7 Orphanet:262056 MONDO:equivalentTo Partial deletion of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 7 -MONDO:0016907 partial deletion of the long arm of chromosome 8 Orphanet:262065 MONDO:equivalentTo Partial deletion of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 8 -MONDO:0016910 partial deletion of the long arm of chromosome 11 Orphanet:262092 MONDO:equivalentTo Partial deletion of the long arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 11 -MONDO:0016911 partial deletion of the long arm of chromosome 13 Orphanet:262101 MONDO:equivalentTo Partial deletion of the long arm of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 13 -MONDO:0016912 partial deletion of the long arm of chromosome 14 Orphanet:262110 MONDO:equivalentTo Partial deletion of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 14 -MONDO:0016913 partial deletion of the long arm of chromosome 15 Orphanet:262119 MONDO:equivalentTo Partial deletion of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 15 -MONDO:0016914 partial deletion of the long arm of chromosome 16 Orphanet:262128 MONDO:equivalentTo Partial deletion of the long arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 16 -MONDO:0016915 partial deletion of the long arm of chromosome 17 Orphanet:262137 MONDO:equivalentTo Partial deletion of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 17 -MONDO:0016917 partial deletion of the long arm of chromosome 19 Orphanet:262155 MONDO:equivalentTo Partial deletion of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 19 -MONDO:0016918 partial deletion of the long arm of chromosome 20 Orphanet:262164 MONDO:equivalentTo Partial deletion of the long arm of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 20 -MONDO:0016919 partial deletion of the long arm of chromosome 21 Orphanet:262173 MONDO:equivalentTo Partial deletion of the long arm of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome 21 -MONDO:0016921 partial duplication of chromosome 1 Orphanet:262191 MONDO:equivalentTo Partial duplication of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 1 -MONDO:0016922 partial duplication of chromosome 2 Orphanet:262196 MONDO:equivalentTo Partial duplication of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 2 -MONDO:0016923 partial duplication of chromosome 3 Orphanet:262201 MONDO:equivalentTo Partial duplication of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 3 -MONDO:0016924 partial duplication of chromosome 4 Orphanet:262206 MONDO:equivalentTo Partial duplication of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 4 -MONDO:0016927 partial duplication of chromosome 6 Orphanet:262628 MONDO:equivalentTo Partial duplication of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 6 -MONDO:0016928 partial duplication of chromosome 7 Orphanet:262633 MONDO:equivalentTo Partial duplication of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 7 -MONDO:0016929 partial duplication of chromosome 8 Orphanet:262638 MONDO:equivalentTo Partial duplication of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 8 -MONDO:0016931 partial duplication of chromosome 10 Orphanet:262648 MONDO:equivalentTo Partial duplication of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 10 -MONDO:0016932 partial duplication of chromosome 11 Orphanet:262653 MONDO:equivalentTo Partial duplication of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 11 -MONDO:0016934 partial duplication of chromosome 16 Orphanet:262672 MONDO:equivalentTo Partial duplication of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 16 -MONDO:0016935 partial duplication of chromosome 17 Orphanet:262677 MONDO:equivalentTo Partial duplication of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 17 -MONDO:0016937 partial duplication of chromosome 19 Orphanet:262687 MONDO:equivalentTo Partial duplication of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome 19 -MONDO:0016939 partial duplication of the short arm of chromosome 2 Orphanet:262698 MONDO:equivalentTo Partial duplication of the short arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 2 -MONDO:0016940 partial duplication of the short arm of chromosome 3 Orphanet:262707 MONDO:equivalentTo Partial duplication of the short arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 3 -MONDO:0016941 partial duplication of the short arm of chromosome 4 Orphanet:262716 MONDO:equivalentTo Partial duplication of the short arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 4 -MONDO:0016943 partial duplication of the short arm of chromosome 6 Orphanet:262740 MONDO:equivalentTo Partial duplication of the short arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 6 -MONDO:0016944 partial duplication of the short arm of chromosome 7 Orphanet:262749 MONDO:equivalentTo Partial duplication of the short arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 7 -MONDO:0016945 partial duplication of the short arm of chromosome 8 Orphanet:262758 MONDO:equivalentTo Partial duplication of the short arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 8 -MONDO:0016947 partial duplication of the short arm of chromosome 10 Orphanet:262776 MONDO:equivalentTo Partial duplication of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 10 -MONDO:0016948 partial duplication of the short arm of chromosome 11 Orphanet:262785 MONDO:equivalentTo Partial duplication of the short arm of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 11 -MONDO:0016949 partial duplication of the short arm of chromosome 16 Orphanet:262794 MONDO:equivalentTo Partial duplication of the short arm of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 16 -MONDO:0016950 partial duplication of the short arm of chromosome 17 Orphanet:262803 MONDO:equivalentTo Partial duplication of the short arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 17 -MONDO:0016952 partial duplication of the long arm of chromosome 1 Orphanet:262833 MONDO:equivalentTo Partial duplication of the long arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 1 -MONDO:0016953 partial duplication of the long arm of chromosome 2 Orphanet:262842 MONDO:equivalentTo Partial duplication of the long arm of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 2 -MONDO:0016954 partial duplication of the long arm of chromosome 3 Orphanet:262851 MONDO:equivalentTo Partial duplication of the long arm of chromosome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 3 -MONDO:0016955 partial duplication of the long arm of chromosome 4 Orphanet:262860 MONDO:equivalentTo Partial duplication of the long arm of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 4 -MONDO:0016957 partial duplication of the long arm of chromosome 6 Orphanet:262878 MONDO:equivalentTo Partial duplication of the long arm of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 6 -MONDO:0016958 partial duplication of the long arm of chromosome 7 Orphanet:262887 MONDO:equivalentTo Partial duplication of the long arm of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 7 -MONDO:0016959 partial duplication of the long arm of chromosome 8 Orphanet:262896 MONDO:equivalentTo Partial duplication of the long arm of chromosome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 8 -MONDO:0016961 partial duplication of the long arm of chromosome 10 Orphanet:262914 MONDO:equivalentTo Partial duplication of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 10 -MONDO:0016964 partial duplication of the long arm of chromosome 14 Orphanet:262941 MONDO:equivalentTo Partial duplication of the long arm of chromosome 14 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 14 -MONDO:0016965 partial duplication of the long arm of chromosome 15 Orphanet:262950 MONDO:equivalentTo Partial duplication of the long arm of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 15 -MONDO:0016967 partial duplication of the long arm of chromosome 17 Orphanet:262968 MONDO:equivalentTo Partial duplication of the long arm of chromosome 17 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 17 -MONDO:0016969 partial duplication of the long arm of chromosome 19 Orphanet:262986 MONDO:equivalentTo Partial duplication of the long arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 19 -MONDO:0016971 limb-girdle muscular dystrophy Orphanet:263 MONDO:equivalentTo Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limb-girdle muscular dystrophy -MONDO:0016972 partial duplication of the long arm of chromosome 22 Orphanet:263004 MONDO:equivalentTo Partial duplication of the long arm of chromosome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome 22 -MONDO:0016974 thymoma type B Orphanet:263317 MONDO:equivalentTo Thymoma type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type b -MONDO:0016975 thymoma type AB Orphanet:263324 MONDO:equivalentTo Thymoma type AB semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymoma type ab -MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma Orphanet:263331 MONDO:equivalentTo Well-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated thymic neuroendocrine carcinoma -MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma Orphanet:263335 MONDO:equivalentTo Moderately-differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moderately-differentiated thymic neuroendocrine carcinoma -MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma Orphanet:263339 MONDO:equivalentTo Poorly differentiated thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poorly differentiated thymic neuroendocrine carcinoma -MONDO:0016979 MRCS syndrome Orphanet:263347 MONDO:equivalentTo MRCS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mrcs syndrome -MONDO:0016982 angiosarcoma Orphanet:263413 MONDO:equivalentTo Angiosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiosarcoma -MONDO:0016984 nevus of Ota Orphanet:263425 MONDO:equivalentTo Nevus of Ota semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus of ota -MONDO:0016985 nevus of Ito Orphanet:263432 MONDO:equivalentTo Nevus of Ito semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevus of ito -MONDO:0016986 congenital smooth muscle hamartoma Orphanet:263435 MONDO:equivalentTo Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital smooth muscle hamartoma -MONDO:0016987 neuroacanthocytosis Orphanet:263440 MONDO:equivalentTo Neuroacanthocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroacanthocytosis -MONDO:0016989 Fuchs heterochromic iridocyclitis Orphanet:263479 MONDO:equivalentTo Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fuchs heterochromic iridocyclitis -MONDO:0016990 acquired prothrombin deficiency Orphanet:26348 MONDO:equivalentTo Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired prothrombin deficiency -MONDO:0016991 acute necrotizing encephalopathy of childhood Orphanet:263524 MONDO:equivalentTo Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute necrotizing encephalopathy of childhood -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III Orphanet:2636 MONDO:equivalentTo Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic primordial dwarfism types i and iii -MONDO:0016995 familial multiple meningioma Orphanet:263662 MONDO:equivalentTo Familial multiple meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial multiple meningioma -MONDO:0016996 NK-cell enteropathy Orphanet:263665 MONDO:equivalentTo NK-cell enteropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nk-cell enteropathy -MONDO:0017003 partial deletion of chromosome X Orphanet:263726 MONDO:equivalentTo Partial deletion of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome x -MONDO:0017007 partial deletion of the long arm of chromosome X Orphanet:263756 MONDO:equivalentTo Partial deletion of the long arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of the long arm of chromosome x -MONDO:0017008 partial duplication of chromosome X Orphanet:263768 MONDO:equivalentTo Partial duplication of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of chromosome x -MONDO:0017009 partial duplication of the short arm of chromosome X Orphanet:263775 MONDO:equivalentTo Partial duplication of the short arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome x -MONDO:0017010 partial duplication of the long arm of chromosome X Orphanet:263783 MONDO:equivalentTo Partial duplication of the long arm of chromosome X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the long arm of chromosome x -MONDO:0017012 partial duplication of the short arm of chromosome 1 Orphanet:264431 MONDO:equivalentTo Partial duplication of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 1 -MONDO:0017013 trisomy 8p Orphanet:264450 MONDO:equivalentTo Trisomy 8p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 8p -MONDO:0017014 interstitial lung disease specific to childhood Orphanet:264656 MONDO:equivalentTo Interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to childhood -MONDO:0017015 primary interstitial lung disease specific to childhood Orphanet:264665 MONDO:equivalentTo Primary interstitial lung disease specific to childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary interstitial lung disease specific to childhood -MONDO:0017018 isolated pulmonary capillaritis Orphanet:264691 MONDO:equivalentTo Isolated pulmonary capillaritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated pulmonary capillaritis -MONDO:0017019 interstitial lung disease specific to infancy Orphanet:264694 MONDO:equivalentTo Interstitial lung disease specific to infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to infancy -MONDO:0017026 interstitial lung disease specific to adulthood Orphanet:264735 MONDO:equivalentTo Interstitial lung disease specific to adulthood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease specific to adulthood -MONDO:0017039 drug or radiation exposure-related interstitial lung disease Orphanet:264978 MONDO:equivalentTo Drug or radiation exposure-related interstitial lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug or radiation exposure-related interstitial lung disease -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Orphanet:2653 MONDO:equivalentTo Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome -MONDO:0017042 thanatophoric dysplasia Orphanet:2655 MONDO:equivalentTo Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thanatophoric dysplasia -MONDO:0017043 congenital mesoblastic nephroma Orphanet:2665 MONDO:equivalentTo Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mesoblastic nephroma -MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome Orphanet:2666 MONDO:equivalentTo Adult familial nephronophthisis-spastic quadriparesia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult familial nephronophthisis-spastic quadriparesia syndrome -MONDO:0017048 pseudomyxoma peritonei Orphanet:26790 MONDO:equivalentTo Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyxoma peritonei -MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome Orphanet:2680 MONDO:equivalentTo Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination neuropathy-arthrogryposis syndrome -MONDO:0017050 intraocular medulloepithelioma Orphanet:268139 MONDO:equivalentTo Intraocular medulloepithelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraocular medulloepithelioma -MONDO:0017051 classic maple syrup urine disease Orphanet:268145 MONDO:equivalentTo Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic maple syrup urine disease -MONDO:0017052 intermediate maple syrup urine disease Orphanet:268162 MONDO:equivalentTo Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate maple syrup urine disease -MONDO:0017053 intermittent maple syrup urine disease Orphanet:268173 MONDO:equivalentTo Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent maple syrup urine disease -MONDO:0017054 thiamine-responsive maple syrup urine disease Orphanet:268184 MONDO:equivalentTo Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thiamine-responsive maple syrup urine disease -MONDO:0017055 mycophenolate mofetil embryopathy Orphanet:268249 MONDO:equivalentTo Mycophenolate mofetil embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycophenolate mofetil embryopathy -MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Orphanet:268261 MONDO:equivalentTo DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion -MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease Orphanet:268337 MONDO:equivalentTo Autosomal recessive intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive intermediate charcot-marie-tooth disease -MONDO:0017060 open iniencephaly Orphanet:268363 MONDO:equivalentTo Open iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label open iniencephaly -MONDO:0017061 closed iniencephaly Orphanet:268366 MONDO:equivalentTo Closed iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label closed iniencephaly -MONDO:0017077 myelocystocele Orphanet:268813 MONDO:equivalentTo Myelocystocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelocystocele -MONDO:0017078 cephalocele Orphanet:268817 MONDO:equivalentTo Cephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cephalocele -MONDO:0017080 occipital encephalocele Orphanet:268823 MONDO:equivalentTo Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele -MONDO:0017081 parietal encephalocele Orphanet:268826 MONDO:equivalentTo Parietal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parietal encephalocele -MONDO:0017082 basal encephalocele Orphanet:268829 MONDO:equivalentTo Basal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label basal encephalocele -MONDO:0017086 primary tethered cord syndrome Orphanet:268861 MONDO:equivalentTo Primary tethered cord syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tethered cord syndrome -MONDO:0017087 neurenteric cyst Orphanet:268865 MONDO:equivalentTo Neurenteric cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurenteric cyst -MONDO:0017088 isolated amyelia Orphanet:268868 MONDO:equivalentTo Isolated amyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated amyelia -MONDO:0017089 isolated megalencephaly Orphanet:268920 MONDO:equivalentTo Isolated megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated megalencephaly -MONDO:0017091 bilateral polymicrogyria Orphanet:268940 MONDO:equivalentTo Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral polymicrogyria -MONDO:0017092 unilateral polymicrogyria Orphanet:268943 MONDO:equivalentTo Unilateral polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral polymicrogyria -MONDO:0017093 unilateral focal polymicrogyria Orphanet:268947 MONDO:equivalentTo Unilateral focal polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral focal polymicrogyria -MONDO:0017094 cerebral cortical dysplasia Orphanet:268950 MONDO:equivalentTo Cerebral cortical dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral cortical dysplasia -MONDO:0017095 isolated focal cortical dysplasia type I Orphanet:268961 MONDO:equivalentTo Isolated focal cortical dysplasia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type i -MONDO:0017096 isolated focal cortical dysplasia type Ia Orphanet:268973 MONDO:equivalentTo Isolated focal cortical dysplasia type Ia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ia -MONDO:0017097 isolated focal cortical dysplasia type Ib Orphanet:268980 MONDO:equivalentTo Isolated focal cortical dysplasia type Ib semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ib -MONDO:0017098 isolated focal cortical dysplasia type Ic Orphanet:268987 MONDO:equivalentTo Isolated focal cortical dysplasia type Ic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type ic -MONDO:0017100 neutropenia-monocytopenia-deafness syndrome Orphanet:2690 MONDO:equivalentTo Neutropenia-monocytopenia-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia-monocytopenia-deafness syndrome -MONDO:0017101 isolated focal cortical dysplasia type IIa Orphanet:269001 MONDO:equivalentTo Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type iia -MONDO:0017102 isolated focal cortical dysplasia type IIb Orphanet:269008 MONDO:equivalentTo Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia type iib -MONDO:0017103 encephaloclastic disorder Orphanet:269190 MONDO:equivalentTo Encephaloclastic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephaloclastic disorder -MONDO:0017105 glioependymal/ependymal cyst Orphanet:269197 MONDO:equivalentTo Glioependymal/ependymal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glioependymal/ependymal cyst -MONDO:0017107 isolated cerebellar vermis agenesis Orphanet:269203 MONDO:equivalentTo Isolated cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated cerebellar vermis agenesis -MONDO:0017108 isolated total cerebellar vermis agenesis Orphanet:269206 MONDO:equivalentTo Isolated total cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated total cerebellar vermis agenesis -MONDO:0017109 isolated partial cerebellar vermis agenesis Orphanet:269209 MONDO:equivalentTo Isolated partial cerebellar vermis agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated partial cerebellar vermis agenesis -MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus Orphanet:269212 MONDO:equivalentTo Isolated Dandy-Walker malformation with hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dandy-walker malformation with hydrocephalus -MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus Orphanet:269215 MONDO:equivalentTo Isolated Dandy-Walker malformation without hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated dandy-walker malformation without hydrocephalus -MONDO:0017112 isolated unilateral hemispheric cerebellar hypoplasia Orphanet:269218 MONDO:equivalentTo Isolated unilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated unilateral hemispheric cerebellar hypoplasia -MONDO:0017113 isolated bilateral hemispheric cerebellar hypoplasia Orphanet:269221 MONDO:equivalentTo Isolated bilateral hemispheric cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated bilateral hemispheric cerebellar hypoplasia -MONDO:0017116 congenital communicating hydrocephalus Orphanet:269505 MONDO:equivalentTo Congenital communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital communicating hydrocephalus -MONDO:0017117 congenital non-communicating hydrocephalus Orphanet:269510 MONDO:equivalentTo Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital non-communicating hydrocephalus -MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome Orphanet:2697 MONDO:equivalentTo Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0017124 noma Orphanet:2700 MONDO:equivalentTo Noma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noma -MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome Orphanet:2722 MONDO:equivalentTo Odonto-onycho dysplasia-alopecia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odonto-onycho dysplasia-alopecia syndrome -MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome Orphanet:2732 MONDO:equivalentTo Olivopontocerebellar atrophy-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olivopontocerebellar atrophy-deafness syndrome -MONDO:0017136 omodysplasia Orphanet:2733 MONDO:equivalentTo Omodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omodysplasia -MONDO:0017137 onchocerciasis Orphanet:2737 MONDO:equivalentTo Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis -MONDO:0017139 oromandibular-limb hypogenesis syndrome Orphanet:2749 MONDO:equivalentTo Oromandibular-limb hypogenesis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular-limb hypogenesis syndrome -MONDO:0017140 L1 syndrome Orphanet:275543 MONDO:equivalentTo L1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label l1 syndrome -MONDO:0017145 beta-thalassemia and related diseases Orphanet:275749 MONDO:equivalentTo Beta-thalassemia and related diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beta-thalassemia and related diseases -MONDO:0017147 idiopathic pulmonary arterial hypertension Orphanet:275766 MONDO:equivalentTo Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pulmonary arterial hypertension -MONDO:0017148 heritable pulmonary arterial hypertension Orphanet:275777 MONDO:equivalentTo Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heritable pulmonary arterial hypertension -MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension Orphanet:275786 MONDO:equivalentTo Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug- or toxin-induced pulmonary arterial hypertension -MONDO:0017157 pulmonary hypertension owing to lung disease and/or hypoxia Orphanet:275837 MONDO:equivalentTo Pulmonary hypertension owing to lung disease and/or hypoxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypertension owing to lung disease and/or hypoxia -MONDO:0017160 behavioral variant of frontotemporal dementia Orphanet:275864 MONDO:equivalentTo Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behavioral variant of frontotemporal dementia -MONDO:0017161 frontotemporal dementia with motor neuron disease Orphanet:275872 MONDO:equivalentTo Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia with motor neuron disease -MONDO:0017164 hemolytic disease of the newborn with Kell alloimmunization Orphanet:275944 MONDO:equivalentTo Hemolytic disease of the newborn with Kell alloimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic disease of the newborn with kell alloimmunization -MONDO:0017165 bile acid CoA ligase deficiency and defective amidation Orphanet:276066 MONDO:equivalentTo Bile acid CoA ligase deficiency and defective amidation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bile acid coa ligase deficiency and defective amidation -MONDO:0017167 malignant epithelial tumor of salivary glands Orphanet:276145 MONDO:equivalentTo Malignant epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant epithelial tumor of salivary glands -MONDO:0017168 benign epithelial tumor of salivary glands Orphanet:276148 MONDO:equivalentTo Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign epithelial tumor of salivary glands -MONDO:0017169 multiple endocrine neoplasia Orphanet:276161 MONDO:equivalentTo Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia -MONDO:0017170 idiopathic recurrent stupor Orphanet:276174 MONDO:equivalentTo Idiopathic recurrent stupor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic recurrent stupor -MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing Orphanet:276212 MONDO:equivalentTo Mucopolysaccharidosis type 6, rapidly progressing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6, rapidly progressing -MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing Orphanet:276223 MONDO:equivalentTo Mucopolysaccharidosis type 6, slowly progressing semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 6, slowly progressing -MONDO:0017174 Machado-Joseph disease type 1 Orphanet:276238 MONDO:equivalentTo Machado-Joseph disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 1 -MONDO:0017175 Machado-Joseph disease type 2 Orphanet:276241 MONDO:equivalentTo Machado-Joseph disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 2 -MONDO:0017176 Machado-Joseph disease type 3 Orphanet:276244 MONDO:equivalentTo Machado-Joseph disease type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label machado-joseph disease type 3 -MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome Orphanet:276280 MONDO:equivalentTo Hemihyperplasia-multiple lipomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemihyperplasia-multiple lipomatosis syndrome -MONDO:0017178 osteochondritis dissecans Orphanet:2764 MONDO:equivalentTo Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans -MONDO:0017180 10q22.3q23.3 microduplication syndrome Orphanet:276422 MONDO:equivalentTo 10q22.3q23.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 10q22.3q23.3 microduplication syndrome -MONDO:0017181 hypnic headache Orphanet:276429 MONDO:equivalentTo Hypnic headache semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypnic headache -MONDO:0017182 familial hyperinsulinism Orphanet:276525 MONDO:equivalentTo Familial hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinsulinism -MONDO:0017183 hyperinsulinism due to UCP2 deficiency Orphanet:276556 MONDO:equivalentTo Hyperinsulinism due to UCP2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to ucp2 deficiency -MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency Orphanet:276575 MONDO:equivalentTo Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hyperinsulinism due to sur1 deficiency -MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency Orphanet:276580 MONDO:equivalentTo Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hyperinsulinism due to kir6.2 deficiency -MONDO:0017186 diazoxide-resistant hyperinsulinism Orphanet:276585 MONDO:equivalentTo Diazoxide-resistant hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant hyperinsulinism -MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Orphanet:276598 MONDO:equivalentTo Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism due to sur1 deficiency -MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Orphanet:276603 MONDO:equivalentTo Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency -MONDO:0017190 sporadic pheochromocytoma/secreting paraganglioma Orphanet:276621 MONDO:equivalentTo Sporadic pheochromocytoma/secreting paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic pheochromocytoma/secreting paraganglioma -MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers Orphanet:276630 MONDO:equivalentTo Symptomatic form of Coffin-Lowry syndrome in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of coffin-lowry syndrome in female carriers -MONDO:0017194 Blount disease Orphanet:2768 MONDO:equivalentTo Blount disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blount disease -MONDO:0017195 Bruck syndrome Orphanet:2771 MONDO:equivalentTo Bruck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruck syndrome -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Orphanet:2773 MONDO:equivalentTo Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome -MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome Orphanet:2779 MONDO:equivalentTo Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopathia striata-pigmentary dermopathy-white forelock syndrome -MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Orphanet:2787 MONDO:equivalentTo Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome -MONDO:0017201 Spasmus nutans Orphanet:279882 MONDO:equivalentTo Spasmus nutans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spasmus nutans -MONDO:0017202 acute endophthalmitis Orphanet:279888 MONDO:equivalentTo Acute endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute endophthalmitis -MONDO:0017203 chronic endophthalmitis Orphanet:279891 MONDO:equivalentTo Chronic endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic endophthalmitis -MONDO:0017204 toxic maculopathy due to antimalarial drugs Orphanet:279894 MONDO:equivalentTo Toxic maculopathy due to antimalarial drugs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic maculopathy due to antimalarial drugs -MONDO:0017205 primary oculocerebral lymphoma Orphanet:279897 MONDO:equivalentTo Primary oculocerebral lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary oculocerebral lymphoma -MONDO:0017207 primary organ-specific lymphoma Orphanet:279911 MONDO:equivalentTo Primary organ-specific lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary organ-specific lymphoma -MONDO:0017209 infectious posterior uveitis Orphanet:279919 MONDO:equivalentTo Infectious posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious posterior uveitis -MONDO:0017210 infectious anterior uveitis Orphanet:279922 MONDO:equivalentTo Infectious anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious anterior uveitis -MONDO:0017211 infectious panuveitis Orphanet:279925 MONDO:equivalentTo Infectious panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious panuveitis -MONDO:0017212 paraneoplastic uveitis Orphanet:279928 MONDO:equivalentTo Paraneoplastic uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic uveitis -MONDO:0017213 postorgasmic illness syndrome Orphanet:279947 MONDO:equivalentTo Postorgasmic illness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postorgasmic illness syndrome -MONDO:0017214 vitamin B12-responsive methylmalonic acidemia Orphanet:28 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-responsive methylmalonic acidemia -MONDO:0017215 calciphylaxis Orphanet:280062 MONDO:equivalentTo Calciphylaxis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calciphylaxis -MONDO:0017216 calciphylaxis cutis Orphanet:280065 MONDO:equivalentTo Calciphylaxis cutis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calciphylaxis cutis -MONDO:0017217 visceral calciphylaxis Orphanet:280068 MONDO:equivalentTo Visceral calciphylaxis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral calciphylaxis -MONDO:0017219 microform holoprosencephaly Orphanet:280200 MONDO:equivalentTo Microform holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microform holoprosencephaly -MONDO:0017220 laryngotracheoesophageal cleft type 0 Orphanet:280205 MONDO:equivalentTo Laryngotracheoesophageal cleft type 0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 0 -MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form Orphanet:280210 MONDO:equivalentTo Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, connatal form -MONDO:0017222 Pelizaeus-Merzbacher disease, classic form Orphanet:280219 MONDO:equivalentTo Pelizaeus-Merzbacher disease, classic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, classic form -MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form Orphanet:280224 MONDO:equivalentTo Pelizaeus-Merzbacher disease, transitional form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease, transitional form -MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers Orphanet:280229 MONDO:equivalentTo Pelizaeus-Merzbacher disease in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher disease in female carriers -MONDO:0017225 null syndrome Orphanet:280234 MONDO:equivalentTo Null syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label null syndrome -MONDO:0017226 Pelizaeus-Merzbacher-like disease Orphanet:280270 MONDO:equivalentTo Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelizaeus-merzbacher-like disease -MONDO:0017227 autoimmune pancreatitis type 1 Orphanet:280302 MONDO:equivalentTo Autoimmune pancreatitis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis type 1 -MONDO:0017228 autoimmune pancreatitis type 2 Orphanet:280315 MONDO:equivalentTo Autoimmune pancreatitis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune pancreatitis type 2 -MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy Orphanet:280365 MONDO:equivalentTo Autosomal semi-dominant severe lipodystrophic laminopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal semi-dominant severe lipodystrophic laminopathy -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy Orphanet:280379 MONDO:equivalentTo Erythropoietic uroporphyria associated with myeloid malignancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic uroporphyria associated with myeloid malignancy -MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Orphanet:280384 MONDO:equivalentTo Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome -MONDO:0017233 familial Alzheimer-like prion disease Orphanet:280397 MONDO:equivalentTo Familial Alzheimer-like prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial alzheimer-like prion disease -MONDO:0017235 familial omphalocele syndrome with facial dysmorphism Orphanet:280403 MONDO:equivalentTo Familial omphalocele syndrome with facial dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial omphalocele syndrome with facial dysmorphism -MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin Orphanet:280598 MONDO:equivalentTo Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensorimotor neuropathy with hyperelastic skin -MONDO:0017238 hemoglobinopathy Toms River Orphanet:280615 MONDO:equivalentTo Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy toms river -MONDO:0017239 familial progressive hyper- and hypopigmentation Orphanet:280628 MONDO:equivalentTo Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial progressive hyper- and hypopigmentation -MONDO:0017242 cutaneous collagenous vasculopathy Orphanet:280779 MONDO:equivalentTo Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous collagenous vasculopathy -MONDO:0017243 bullous diffuse cutaneous mastocytosis Orphanet:280785 MONDO:equivalentTo Bullous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous diffuse cutaneous mastocytosis -MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis Orphanet:280794 MONDO:equivalentTo Pseudoxanthomatous diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthomatous diffuse cutaneous mastocytosis -MONDO:0017245 intralobar congenital pulmonary sequestration Orphanet:280802 MONDO:equivalentTo Intralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intralobar congenital pulmonary sequestration -MONDO:0017246 extralobar congenital pulmonary sequestration Orphanet:280811 MONDO:equivalentTo Extralobar congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extralobar congenital pulmonary sequestration -MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation Orphanet:280821 MONDO:equivalentTo Communicating congenital bronchopulmonary-foregut malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating congenital bronchopulmonary-foregut malformation -MONDO:0017248 congenital pulmonary airway malformation type 0 Orphanet:280827 MONDO:equivalentTo Congenital pulmonary airway malformation type 0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 0 -MONDO:0017249 congenital pulmonary airway malformation type 1 Orphanet:280832 MONDO:equivalentTo Congenital pulmonary airway malformation type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 1 -MONDO:0017250 congenital pulmonary airway malformation type 2 Orphanet:280840 MONDO:equivalentTo Congenital pulmonary airway malformation type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 2 -MONDO:0017251 congenital pulmonary airway malformation type 3 Orphanet:280847 MONDO:equivalentTo Congenital pulmonary airway malformation type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 3 -MONDO:0017252 congenital pulmonary airway malformation type 4 Orphanet:280854 MONDO:equivalentTo Congenital pulmonary airway malformation type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary airway malformation type 4 -MONDO:0017255 panuveitis Orphanet:280898 MONDO:equivalentTo Panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panuveitis -MONDO:0017257 idiopathic posterior uveitis Orphanet:280917 MONDO:equivalentTo Idiopathic posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic posterior uveitis -MONDO:0017258 idiopathic panuveitis Orphanet:280921 MONDO:equivalentTo Idiopathic panuveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic panuveitis -MONDO:0017264 syndromic recessive X-linked ichthyosis Orphanet:281090 MONDO:equivalentTo Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic recessive x-linked ichthyosis -MONDO:0017265 autosomal recessive congenital ichthyosis Orphanet:281097 MONDO:equivalentTo Autosomal recessive congenital ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive congenital ichthyosis -MONDO:0017266 keratinopathic ichthyosis Orphanet:281103 MONDO:equivalentTo Keratinopathic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratinopathic ichthyosis -MONDO:0017268 acral self-healing collodion baby Orphanet:281127 MONDO:equivalentTo Acral self-healing collodion baby semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral self-healing collodion baby -MONDO:0017269 X-linked ichthyosis syndrome Orphanet:281210 MONDO:equivalentTo X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked ichthyosis syndrome -MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome Orphanet:2819 MONDO:equivalentTo Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-facial-cutaneous lesions syndrome -MONDO:0017276 frontotemporal dementia Orphanet:282 MONDO:equivalentTo Frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia -MONDO:0017277 partial deletion of chromosome 12 Orphanet:282124 MONDO:equivalentTo Partial deletion of chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial deletion of chromosome 12 -MONDO:0017278 autoimmune polyendocrinopathy Orphanet:282196 MONDO:equivalentTo Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune polyendocrinopathy -MONDO:0017279 young-onset Parkinson disease Orphanet:2828 MONDO:equivalentTo Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label young-onset parkinson disease -MONDO:0017280 demodicidosis Orphanet:283 MONDO:equivalentTo Demodicidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label demodicidosis -MONDO:0017281 renal caliceal diverticuli-deafness syndrome Orphanet:2838 MONDO:equivalentTo Renal caliceal diverticuli-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal caliceal diverticuli-deafness syndrome -MONDO:0017282 alveolar echinococcosis Orphanet:284 MONDO:equivalentTo Alveolar echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alveolar echinococcosis -MONDO:0017284 Xp22.13p22.2 duplication syndrome Orphanet:284180 MONDO:equivalentTo Xp22.13p22.2 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xp22.13p22.2 duplication syndrome -MONDO:0017285 penoscrotal transposition Orphanet:2842 MONDO:equivalentTo Penoscrotal transposition semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label penoscrotal transposition -MONDO:0017286 tempi syndrome Orphanet:284227 MONDO:equivalentTo TEMPI syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tempi syndrome -MONDO:0017287 IgG4-related disease Orphanet:284264 MONDO:equivalentTo IgG4-related disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related disease -MONDO:0017289 fetal lung interstitial tumor Orphanet:284362 MONDO:equivalentTo Fetal lung interstitial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor -MONDO:0017290 familial intrahepatic cholestasis Orphanet:284385 MONDO:equivalentTo Familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial intrahepatic cholestasis -MONDO:0017291 reversible cerebral vasoconstriction syndrome Orphanet:284388 MONDO:equivalentTo Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reversible cerebral vasoconstriction syndrome -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung Orphanet:284395 MONDO:equivalentTo Well-differentiated fetal adenocarcinoma of the lung semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label well-differentiated fetal adenocarcinoma of the lung -MONDO:0017295 glycerol kinase deficiency, juvenile form Orphanet:284411 MONDO:equivalentTo Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycerol kinase deficiency, juvenile form -MONDO:0017296 glycerol kinase deficiency, adult form Orphanet:284414 MONDO:equivalentTo Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycerol kinase deficiency, adult form -MONDO:0017298 acute zonal occult outer retinopathy Orphanet:284454 MONDO:equivalentTo Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute zonal occult outer retinopathy -MONDO:0017299 acute annular outer retinopathy Orphanet:284460 MONDO:equivalentTo Acute annular outer retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute annular outer retinopathy -MONDO:0017300 congenital pericardium anomaly Orphanet:2846 MONDO:equivalentTo Congenital pericardium anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pericardium anomaly -MONDO:0017301 pericardial and diaphragmatic defect Orphanet:2847 MONDO:equivalentTo Pericardial and diaphragmatic defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pericardial and diaphragmatic defect -MONDO:0017303 qualitative or quantitative defects of tropomyosin Orphanet:284790 MONDO:equivalentTo Qualitative or quantitative defects of tropomyosin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of tropomyosin -MONDO:0017304 ocular albinism Orphanet:284804 MONDO:equivalentTo Ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular albinism -MONDO:0017305 syndromic oculocutaneous albinism Orphanet:284811 MONDO:equivalentTo Syndromic oculocutaneous albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic oculocutaneous albinism -MONDO:0017306 disorder of phenylalanine metabolism Orphanet:284814 MONDO:equivalentTo Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of phenylalanine metabolism -MONDO:0017307 disorder of tyrosine metabolism Orphanet:284818 MONDO:equivalentTo Disorder of tyrosine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of tyrosine metabolism -MONDO:0017309 neonatal Marfan syndrome Orphanet:284979 MONDO:equivalentTo Neonatal Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal marfan syndrome -MONDO:0017312 Perrault syndrome Orphanet:2855 MONDO:equivalentTo Perrault syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perrault syndrome -MONDO:0017313 disorder of folate metabolism and transport Orphanet:285657 MONDO:equivalentTo Disorder of folate metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of folate metabolism and transport -MONDO:0017315 short stature-webbed neck-heart disease syndrome Orphanet:2865 MONDO:equivalentTo Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-webbed neck-heart disease syndrome -MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Orphanet:2866 MONDO:equivalentTo Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-deafness-neutrophil dysfunction-dysmorphism syndrome -MONDO:0017317 phakomatosis pigmentokeratotica Orphanet:2874 MONDO:equivalentTo Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis pigmentokeratotica -MONDO:0017318 phakomatosis pigmentovascularis Orphanet:2875 MONDO:equivalentTo Phakomatosis pigmentovascularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis pigmentovascularis -MONDO:0017319 hereditary elliptocytosis Orphanet:288 MONDO:equivalentTo Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency Orphanet:2880 MONDO:equivalentTo Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phosphoenolpyruvate carboxykinase deficiency -MONDO:0017321 pili torti-onychodysplasia syndrome Orphanet:2890 MONDO:equivalentTo Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili torti-onychodysplasia syndrome -MONDO:0017322 disorders of vitamin D metabolism Orphanet:289098 MONDO:equivalentTo Disorders of vitamin D metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorders of vitamin d metabolism -MONDO:0017323 hypocalcemic rickets Orphanet:289103 MONDO:equivalentTo Hypocalcemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcemic rickets -MONDO:0017324 autosomal recessive hypophosphatemic rickets Orphanet:289176 MONDO:equivalentTo Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hypophosphatemic rickets -MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266 MONDO:equivalentTo Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation -MONDO:0017326 infective dermatitis associated with HTLV-1 Orphanet:289347 MONDO:equivalentTo Infective dermatitis associated with HTLV-1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infective dermatitis associated with htlv-1 -MONDO:0017327 primary non-gestational choriocarcinoma of ovary Orphanet:289356 MONDO:equivalentTo Primary non-gestational choriocarcinoma of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary non-gestational choriocarcinoma of ovary -MONDO:0017328 non-central nervous system-localized embryonal carcinoma Orphanet:289362 MONDO:equivalentTo Non-central nervous system-localized embryonal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-central nervous system-localized embryonal carcinoma -MONDO:0017329 familial vesicoureteral reflux Orphanet:289365 MONDO:equivalentTo Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial vesicoureteral reflux -MONDO:0017330 malignancy diagnosed during pregnancy Orphanet:289385 MONDO:equivalentTo Malignancy diagnosed during pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignancy diagnosed during pregnancy -MONDO:0017334 12q15q21.1 microdeletion syndrome Orphanet:289513 MONDO:equivalentTo 12q15q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12q15q21.1 microdeletion syndrome -MONDO:0017335 microtriplication 11q24.1 Orphanet:289522 MONDO:equivalentTo Microtriplication 11q24.1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtriplication 11q24.1 -MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Orphanet:289548 MONDO:equivalentTo Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency -MONDO:0017339 exfoliative ichthyosis Orphanet:289586 MONDO:equivalentTo Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative ichthyosis -MONDO:0017340 juvenile nasopharyngeal angiofibroma Orphanet:289596 MONDO:equivalentTo Juvenile nasopharyngeal angiofibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile nasopharyngeal angiofibroma -MONDO:0017342 Epstein-Barr virus-related tumor Orphanet:289638 MONDO:equivalentTo Epstein-Barr Virus-related tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-related tumor -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder Orphanet:289644 MONDO:equivalentTo Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated malignant lymphoproliferative disorder -MONDO:0017344 Epstein-Barr virus-associated carcinoma Orphanet:289651 MONDO:equivalentTo Epstein-Barr Virus-associated carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated carcinoma -MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor Orphanet:289656 MONDO:equivalentTo Epstein-Barr Virus-associated mesenchymal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated mesenchymal tumor -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Orphanet:289661 MONDO:equivalentTo Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-positive diffuse large b-cell lymphoma of the elderly -MONDO:0017347 plasmablastic lymphoma Orphanet:289666 MONDO:equivalentTo Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmablastic lymphoma -MONDO:0017348 lymphoepithelial-like carcinoma Orphanet:289682 MONDO:equivalentTo Lymphoepithelial-like carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoepithelial-like carcinoma -MONDO:0017349 myopericytoma Orphanet:289685 MONDO:equivalentTo Myopericytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopericytoma -MONDO:0017352 disorder of glutamine metabolism Orphanet:289841 MONDO:equivalentTo Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glutamine metabolism -MONDO:0017353 neonatal glycine encephalopathy Orphanet:289857 MONDO:equivalentTo Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal glycine encephalopathy -MONDO:0017354 infantile glycine encephalopathy Orphanet:289860 MONDO:equivalentTo Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile glycine encephalopathy -MONDO:0017357 transient hyperammonemia of the newborn Orphanet:289877 MONDO:equivalentTo Transient hyperammonemia of the newborn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient hyperammonemia of the newborn -MONDO:0017359 3-methylglutaconic aciduria Orphanet:289902 MONDO:equivalentTo 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria -MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 Orphanet:289916 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-unresponsive methylmalonic acidemia type mut0 -MONDO:0017361 congenital rubella syndrome Orphanet:290 MONDO:equivalentTo Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome -MONDO:0017362 neuralgic amyotrophy Orphanet:2901 MONDO:equivalentTo Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy -MONDO:0017363 idiopathic chronic eosinophilic pneumonia Orphanet:2902 MONDO:equivalentTo Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic chronic eosinophilic pneumonia -MONDO:0017364 POEMS syndrome Orphanet:2905 MONDO:equivalentTo POEMS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poems syndrome -MONDO:0017366 hereditary pheochromocytoma-paraganglioma Orphanet:29072 MONDO:equivalentTo Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary pheochromocytoma-paraganglioma -MONDO:0017372 congenital varicella syndrome Orphanet:291 MONDO:equivalentTo Congenital varicella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital varicella syndrome -MONDO:0017373 poliomyelitis Orphanet:2912 MONDO:equivalentTo Poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poliomyelitis -MONDO:0017375 congenital enterovirus infection Orphanet:292 MONDO:equivalentTo Congenital enterovirus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital enterovirus infection -MONDO:0017376 reactive arthritis Orphanet:29207 MONDO:equivalentTo Reactive arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reactive arthritis -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome Orphanet:2921 MONDO:equivalentTo Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preaxial polydactyly-colobomata-intellectual disability syndrome -MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Orphanet:2928 MONDO:equivalentTo Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyneuropathy-intellectual disability-acromicria-premature menopause syndrome -MONDO:0017380 juvenile polyposis syndrome Orphanet:2929 MONDO:equivalentTo Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polyposis syndrome -MONDO:0017381 congenital herpes simplex virus infection Orphanet:293 MONDO:equivalentTo Congenital herpes simplex virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital herpes simplex virus infection -MONDO:0017382 familial clubfoot due to 5q31 microdeletion Orphanet:293144 MONDO:equivalentTo Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to 5q31 microdeletion -MONDO:0017383 familial clubfoot due to PITX1 point mutation Orphanet:293150 MONDO:equivalentTo Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial clubfoot due to pitx1 point mutation -MONDO:0017384 acute generalized exanthematous pustulosis Orphanet:293173 MONDO:equivalentTo Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute generalized exanthematous pustulosis -MONDO:0017386 pleomorphic rhabdomyosarcoma Orphanet:293199 MONDO:equivalentTo Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic rhabdomyosarcoma -MONDO:0017387 epithelioid sarcoma Orphanet:293202 MONDO:equivalentTo Epithelioid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid sarcoma -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Orphanet:293284 MONDO:equivalentTo Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria -MONDO:0017391 Grayson-Wilbrandt corneal dystrophy Orphanet:293375 MONDO:equivalentTo Grayson-Wilbrandt corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grayson-wilbrandt corneal dystrophy -MONDO:0017392 pre-descemet corneal dystrophy Orphanet:293462 MONDO:equivalentTo Pre-Descemet corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pre-descemet corneal dystrophy -MONDO:0017394 ketamine-induced biliary dilatation Orphanet:293807 MONDO:equivalentTo Ketamine-induced biliary dilatation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ketamine-induced biliary dilatation -MONDO:0017396 toxic dermatosis Orphanet:293815 MONDO:equivalentTo Toxic dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic dermatosis -MONDO:0017398 3MC syndrome Orphanet:293843 MONDO:equivalentTo 3MC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3mc syndrome -MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form Orphanet:293888 MONDO:equivalentTo Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, left dominant form -MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form Orphanet:293899 MONDO:equivalentTo Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, biventricular form -MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form Orphanet:293910 MONDO:equivalentTo Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated arrhythmogenic ventricular dysplasia, right dominant form -MONDO:0017404 distal Xq28 microduplication syndrome Orphanet:293939 MONDO:equivalentTo Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal xq28 microduplication syndrome -MONDO:0017405 1p21.3 microdeletion syndrome Orphanet:293948 MONDO:equivalentTo 1p21.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1p21.3 microdeletion syndrome -MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Orphanet:293967 MONDO:equivalentTo Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome -MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome Orphanet:293987 MONDO:equivalentTo Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome -MONDO:0017409 fetal cytomegalovirus syndrome Orphanet:294 MONDO:equivalentTo Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal cytomegalovirus syndrome -MONDO:0017410 porencephaly Orphanet:2940 MONDO:equivalentTo Porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porencephaly -MONDO:0017411 neonatal inflammatory skin and bowel disease Orphanet:294023 MONDO:equivalentTo Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal inflammatory skin and bowel disease -MONDO:0017415 multiple pterygium syndrome Orphanet:294060 MONDO:equivalentTo Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple pterygium syndrome -MONDO:0017416 postpoliomyelitis syndrome Orphanet:2942 MONDO:equivalentTo Postpoliomyelitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpoliomyelitis syndrome -MONDO:0017417 renal-hepatic-pancreatic dysplasia Orphanet:294415 MONDO:equivalentTo Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal-hepatic-pancreatic dysplasia -MONDO:0017418 chronic intestinal failure Orphanet:294422 MONDO:equivalentTo Chronic intestinal failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intestinal failure -MONDO:0017420 intercalary limb defects Orphanet:294927 MONDO:equivalentTo Intercalary limb defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intercalary limb defects -MONDO:0017427 congenital deformities of limbs Orphanet:294944 MONDO:equivalentTo Congenital deformities of limbs semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital deformities of limbs -MONDO:0017428 congenital deformities of fingers Orphanet:294947 MONDO:equivalentTo Congenital deformities of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital deformities of fingers -MONDO:0017429 joint formation defects Orphanet:294949 MONDO:equivalentTo Joint formation defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joint formation defects -MONDO:0017435 popliteal pterygium syndrome Orphanet:294963 MONDO:equivalentTo Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome -MONDO:0017436 lethal congenital contracture syndrome Orphanet:294965 MONDO:equivalentTo Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal congenital contracture syndrome -MONDO:0017437 amelia of upper limb Orphanet:294967 MONDO:equivalentTo Amelia of upper limb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelia of upper limb -MONDO:0017438 amelia of lower limb Orphanet:294969 MONDO:equivalentTo Amelia of lower limb semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelia of lower limb -MONDO:0017439 tetra-amelia Orphanet:294971 MONDO:equivalentTo Tetra-amelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetra-amelia -MONDO:0017440 humeral agenesis/hypoplasia Orphanet:294973 MONDO:equivalentTo Humeral agenesis/hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeral agenesis/hypoplasia -MONDO:0017441 congenital absence of upper arm and forearm with hand present Orphanet:294975 MONDO:equivalentTo Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present -MONDO:0017442 congenital absence of thigh and lower leg with foot present Orphanet:294977 MONDO:equivalentTo Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present -MONDO:0017443 congenital absence of both forearm and hand Orphanet:294979 MONDO:equivalentTo Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand -MONDO:0017444 congenital absence of both lower leg and foot Orphanet:294981 MONDO:equivalentTo Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot -MONDO:0017445 acheiria Orphanet:294983 MONDO:equivalentTo Acheiria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acheiria -MONDO:0017446 apodia Orphanet:294986 MONDO:equivalentTo Apodia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apodia -MONDO:0017453 fetal parvovirus syndrome Orphanet:295 MONDO:equivalentTo Fetal parvovirus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal parvovirus syndrome -MONDO:0017455 hyperphalangy Orphanet:295002 MONDO:equivalentTo Hyperphalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphalangy -MONDO:0017460 syndactyly type 6 Orphanet:295012 MONDO:equivalentTo Syndactyly type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly type 6 -MONDO:0017461 familial isolated clinodactyly of fingers Orphanet:295014 MONDO:equivalentTo Familial isolated clinodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated clinodactyly of fingers -MONDO:0017462 congenital pseudoarthrosis of the tibia Orphanet:295018 MONDO:equivalentTo Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the tibia -MONDO:0017463 congenital pseudoarthrosis of the femur Orphanet:295020 MONDO:equivalentTo Congenital pseudoarthrosis of the femur semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the femur -MONDO:0017464 congenital pseudoarthrosis of the fibula Orphanet:295022 MONDO:equivalentTo Congenital pseudoarthrosis of the fibula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the fibula -MONDO:0017465 congenital pseudoarthrosis of the radius Orphanet:295024 MONDO:equivalentTo Congenital pseudoarthrosis of the radius semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the radius -MONDO:0017466 congenital pseudoarthrosis of the ulna Orphanet:295026 MONDO:equivalentTo Congenital pseudoarthrosis of the ulna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pseudoarthrosis of the ulna -MONDO:0017467 tibio-fibular synostosis Orphanet:295028 MONDO:equivalentTo Tibio-fibular synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibio-fibular synostosis -MONDO:0017470 congenital knee dislocation Orphanet:295034 MONDO:equivalentTo Congenital knee dislocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital knee dislocation -MONDO:0017471 congenital patella dislocation Orphanet:295036 MONDO:equivalentTo Congenital patella dislocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital patella dislocation -MONDO:0017474 macrodactyly of fingers Orphanet:295044 MONDO:equivalentTo Macrodactyly of fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers -MONDO:0017475 macrodactyly of toes Orphanet:295047 MONDO:equivalentTo Macrodactyly of toes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes -MONDO:0017476 upper limb hypertrophy Orphanet:295049 MONDO:equivalentTo Upper limb hypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper limb hypertrophy -MONDO:0017477 lower limb hypertrophy Orphanet:295051 MONDO:equivalentTo Lower limb hypertrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lower limb hypertrophy -MONDO:0017543 zygodactyly type 2 Orphanet:295189 MONDO:equivalentTo Zygodactyly type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 2 -MONDO:0017544 zygodactyly type 3 Orphanet:295191 MONDO:equivalentTo Zygodactyly type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 3 -MONDO:0017545 zygodactyly type 4 Orphanet:295193 MONDO:equivalentTo Zygodactyly type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 4 -MONDO:0017546 congenital vertical talus, unilateral Orphanet:295201 MONDO:equivalentTo Congenital vertical talus, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus, unilateral -MONDO:0017547 congenital vertical talus, bilateral Orphanet:295203 MONDO:equivalentTo Congenital vertical talus, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertical talus, bilateral -MONDO:0017552 humero-ulnar synostosis, unilateral Orphanet:295213 MONDO:equivalentTo Humero-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis, unilateral -MONDO:0017553 humero-ulnar synostosis, bilateral Orphanet:295215 MONDO:equivalentTo Humero-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis, bilateral -MONDO:0017554 radio-ulnar synostosis, unilateral Orphanet:295217 MONDO:equivalentTo Radio-ulnar synostosis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis, unilateral -MONDO:0017555 radio-ulnar synostosis, bilateral Orphanet:295219 MONDO:equivalentTo Radio-ulnar synostosis, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radio-ulnar synostosis, bilateral -MONDO:0017558 congenital elbow dislocation, unilateral Orphanet:295225 MONDO:equivalentTo Congenital elbow dislocation, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital elbow dislocation, unilateral -MONDO:0017559 congenital elbow dislocation, bilateral Orphanet:295227 MONDO:equivalentTo Congenital elbow dislocation, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital elbow dislocation, bilateral -MONDO:0017560 congenital genu recurvatum Orphanet:295229 MONDO:equivalentTo Congenital genu recurvatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital genu recurvatum -MONDO:0017561 congenital genu flexum Orphanet:295232 MONDO:equivalentTo Congenital genu flexum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital genu flexum -MONDO:0017564 macrodactyly of fingers, unilateral Orphanet:295239 MONDO:equivalentTo Macrodactyly of fingers, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers, unilateral -MONDO:0017565 macrodactyly of fingers, bilateral Orphanet:295241 MONDO:equivalentTo Macrodactyly of fingers, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of fingers, bilateral -MONDO:0017566 macrodactyly of toes, unilateral Orphanet:295243 MONDO:equivalentTo Macrodactyly of toes, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes, unilateral -MONDO:0017567 macrodactyly of toes, bilateral Orphanet:295245 MONDO:equivalentTo Macrodactyly of toes, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrodactyly of toes, bilateral -MONDO:0017569 de Barsy syndrome Orphanet:2962 MONDO:equivalentTo De Barsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label de barsy syndrome -MONDO:0017570 leukocyte adhesion deficiency Orphanet:2968 MONDO:equivalentTo Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency -MONDO:0017571 Proteus-like syndrome Orphanet:2969 MONDO:equivalentTo Proteus-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteus-like syndrome -MONDO:0017572 tick-borne encephalitis Orphanet:297 MONDO:equivalentTo Tick-borne encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne encephalitis -MONDO:0017574 chronic intestinal pseudoobstruction Orphanet:2978 MONDO:equivalentTo Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intestinal pseudoobstruction -MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy Orphanet:298 MONDO:equivalentTo Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial neurogastrointestinal encephalomyopathy -MONDO:0017577 spontaneous periodic hypothermia Orphanet:29822 MONDO:equivalentTo Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous periodic hypothermia -MONDO:0017578 disorder of thiamine metabolism and transport Orphanet:298644 MONDO:equivalentTo Disorder of thiamine metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of thiamine metabolism and transport -MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome Orphanet:2995 MONDO:equivalentTo Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baraitser-winter cerebrofrontofacial syndrome -MONDO:0017580 11p15.4 microduplication syndrome Orphanet:300305 MONDO:equivalentTo 11p15.4 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 11p15.4 microduplication syndrome -MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome Orphanet:3004 MONDO:equivalentTo Mirror polydactyly-vertebral segmentation-limbs defects syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirror polydactyly-vertebral segmentation-limbs defects syndrome -MONDO:0017584 Sagliker syndrome Orphanet:300493 MONDO:equivalentTo Sagliker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sagliker syndrome -MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome Orphanet:300501 MONDO:equivalentTo Painful orbital and systemic neurofibromas-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful orbital and systemic neurofibromas-marfanoid habitus syndrome -MONDO:0017586 onychocytic matricoma Orphanet:300504 MONDO:equivalentTo Onychocytic matricoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onychocytic matricoma -MONDO:0017587 onychomatricoma Orphanet:300512 MONDO:equivalentTo Onychomatricoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onychomatricoma -MONDO:0017589 follicular cholangitis and pancreatitis Orphanet:300552 MONDO:equivalentTo Follicular cholangitis and pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular cholangitis and pancreatitis -MONDO:0017590 carcinoma of the ampulla of vater Orphanet:300557 MONDO:equivalentTo Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of the ampulla of vater -MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome Orphanet:300564 MONDO:equivalentTo Combined pulmonary fibrosis-emphysema syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined pulmonary fibrosis-emphysema syndrome -MONDO:0017592 staphylococcal toxemia Orphanet:300579 MONDO:equivalentTo Staphylococcal toxemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal toxemia -MONDO:0017593 juvenile amyotrophic lateral sclerosis Orphanet:300605 MONDO:equivalentTo Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile amyotrophic lateral sclerosis -MONDO:0017594 indolent B-cell non-Hodgkin lymphoma Orphanet:300842 MONDO:equivalentTo Indolent B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent b-cell non-hodgkin lymphoma -MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma Orphanet:300846 MONDO:equivalentTo Aggressive B-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive b-cell non-hodgkin lymphoma -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system Orphanet:300849 MONDO:equivalentTo Diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma of the central nervous system -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma Orphanet:300857 MONDO:equivalentTo T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell/histiocyte rich large b cell lymphoma -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma Orphanet:300865 MONDO:equivalentTo Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous anaplastic large cell lymphoma -MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma Orphanet:300869 MONDO:equivalentTo Splenic diffuse red pulp small B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenic diffuse red pulp small b-cell lymphoma -MONDO:0017600 hairy cell leukemia variant Orphanet:300878 MONDO:equivalentTo Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hairy cell leukemia variant -MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation Orphanet:300888 MONDO:equivalentTo Diffuse large B-cell lymphoma with chronic inflammation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma with chronic inflammation -MONDO:0017602 ALK-positive anaplastic large cell lymphoma Orphanet:300895 MONDO:equivalentTo ALK-positive anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-positive anaplastic large cell lymphoma -MONDO:0017603 ALK-negative anaplastic large cell lymphoma Orphanet:300903 MONDO:equivalentTo ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-negative anaplastic large cell lymphoma -MONDO:0017604 marginal zone lymphoma Orphanet:300912 MONDO:equivalentTo Marginal zone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marginal zone lymphoma -MONDO:0017609 renal tubular dysgenesis Orphanet:3033 MONDO:equivalentTo Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis -MONDO:0017610 epidermolysis bullosa simplex Orphanet:304 MONDO:equivalentTo Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex -MONDO:0017611 pituitary tumor Orphanet:304055 MONDO:equivalentTo Pituitary tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary tumor -MONDO:0017612 junctional epidermolysis bullosa Orphanet:305 MONDO:equivalentTo Junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa -MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Orphanet:3055 MONDO:equivalentTo X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome -MONDO:0017615 benign familial infantile epilepsy Orphanet:306 MONDO:equivalentTo Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial infantile epilepsy -MONDO:0017623 PTEN hamartoma tumor syndrome Orphanet:306498 MONDO:equivalentTo PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pten hamartoma tumor syndrome -MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome Orphanet:306530 MONDO:equivalentTo Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hereditary facial paralysis-variable hearing loss syndrome -MONDO:0017628 myospherulosis Orphanet:306553 MONDO:equivalentTo Myospherulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myospherulosis -MONDO:0017630 X-linked complicated spastic paraplegia type 1 Orphanet:306617 MONDO:equivalentTo X-linked complicated spastic paraplegia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked complicated spastic paraplegia type 1 -MONDO:0017634 non-infectious anterior uveitis Orphanet:306648 MONDO:equivalentTo Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-infectious anterior uveitis -MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome Orphanet:306669 MONDO:equivalentTo Hemiparkinsonism-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiparkinsonism-hemiatrophy syndrome -MONDO:0017638 manganese poisoning Orphanet:306682 MONDO:equivalentTo Manganese poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label manganese poisoning -MONDO:0017648 Sydenham chorea Orphanet:306731 MONDO:equivalentTo Sydenham chorea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sydenham chorea -MONDO:0017649 hemidystonia-hemiatrophy syndrome Orphanet:306741 MONDO:equivalentTo Hemidystonia-hemiatrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemidystonia-hemiatrophy syndrome -MONDO:0017658 hyperekplexia Orphanet:306773 MONDO:equivalentTo Hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperekplexia -MONDO:0017659 sporadic hyperekplexia Orphanet:306776 MONDO:equivalentTo Sporadic hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic hyperekplexia -MONDO:0017666 diffuse palmoplantar keratoderma Orphanet:307141 MONDO:equivalentTo Diffuse palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse palmoplantar keratoderma -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome Orphanet:3074 MONDO:equivalentTo Intellectual disability-short stature-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-short stature-hypertelorism syndrome -MONDO:0017672 focal palmoplantar keratoderma Orphanet:307837 MONDO:equivalentTo Focal palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar keratoderma -MONDO:0017675 punctate palmoplantar keratoderma Orphanet:307967 MONDO:equivalentTo Punctate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma -MONDO:0017677 focal acral hyperkeratosis Orphanet:308013 MONDO:equivalentTo Focal acral hyperkeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal acral hyperkeratosis -MONDO:0017681 erythrokeratoderma variabilis progressiva Orphanet:308166 MONDO:equivalentTo Erythrokeratoderma variabilis progressiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratoderma variabilis progressiva -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome Orphanet:3082 MONDO:equivalentTo Intellectual disability-polydactyly-uncombable hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-polydactyly-uncombable hair syndrome -MONDO:0017683 methylcobalamin deficiency type cblDv1 Orphanet:308380 MONDO:equivalentTo Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methylcobalamin deficiency type cbldv1 -MONDO:0017684 disorder of beta and omega amino acid metabolism Orphanet:308407 MONDO:equivalentTo Disorder of beta and omega amino acid metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of beta and omega amino acid metabolism -MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 Orphanet:308442 MONDO:equivalentTo Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-responsive methylmalonic acidemia, type cbldv2 -MONDO:0017687 disorder of neutral amino acid transport Orphanet:308451 MONDO:equivalentTo Disorder of neutral amino acid transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of neutral amino acid transport -MONDO:0017688 disorder of glycolysis Orphanet:308459 MONDO:equivalentTo Disorder of glycolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glycolysis -MONDO:0017689 disorder of fructose metabolism Orphanet:308463 MONDO:equivalentTo Disorder of fructose metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fructose metabolism -MONDO:0017690 disorder of galactose metabolism Orphanet:308467 MONDO:equivalentTo Disorder of galactose metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of galactose metabolism -MONDO:0017691 erythrocyte galactose epimerase deficiency Orphanet:308473 MONDO:equivalentTo Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrocyte galactose epimerase deficiency -MONDO:0017692 generalized galactose epimerase deficiency Orphanet:308487 MONDO:equivalentTo Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized galactose epimerase deficiency -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset Orphanet:308552 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency, infantile onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to acid maltase deficiency, infantile onset -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Orphanet:308621 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Orphanet:308638 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Orphanet:308655 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form -MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Orphanet:308670 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Orphanet:308684 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form -MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Orphanet:308698 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form -MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Orphanet:308712 MONDO:equivalentTo Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form -MONDO:0017703 disorder of glyoxylate metabolism Orphanet:308998 MONDO:equivalentTo Disorder of glyoxylate metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of glyoxylate metabolism -MONDO:0017704 familial partial epilepsy Orphanet:309 MONDO:equivalentTo Familial partial epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial epilepsy -MONDO:0017705 congenital pulmonary venous return anomaly Orphanet:3090 MONDO:equivalentTo Congenital pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary venous return anomaly -MONDO:0017708 mevalonate kinase deficiency Orphanet:309025 MONDO:equivalentTo Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency -MONDO:0017711 pancreatic colipase deficiency Orphanet:309108 MONDO:equivalentTo Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic colipase deficiency -MONDO:0017712 combined pancreatic lipase-colipase deficiency Orphanet:309111 MONDO:equivalentTo Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined pancreatic lipase-colipase deficiency -MONDO:0017713 disorder of fatty acid oxidation and ketogenesis Orphanet:309115 MONDO:equivalentTo Disorder of fatty acid oxidation and ketogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fatty acid oxidation and ketogenesis -MONDO:0017714 acyl-CoA dehydrogenase deficiency Orphanet:309120 MONDO:equivalentTo Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acyl-coa dehydrogenase deficiency -MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet:309127 MONDO:equivalentTo 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0017716 disorder of carnitine cycle and carnitine transport Orphanet:309130 MONDO:equivalentTo Disorder of carnitine cycle and carnitine transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of carnitine cycle and carnitine transport -MONDO:0017719 gangliosidosis Orphanet:309144 MONDO:equivalentTo Gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gangliosidosis -MONDO:0017720 GM2 gangliosidosis Orphanet:309152 MONDO:equivalentTo GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm2 gangliosidosis -MONDO:0017721 Sandhoff disease, infantile form Orphanet:309155 MONDO:equivalentTo Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, infantile form -MONDO:0017722 Sandhoff disease, juvenile form Orphanet:309162 MONDO:equivalentTo Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, juvenile form -MONDO:0017723 Sandhoff disease, adult form Orphanet:309169 MONDO:equivalentTo Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandhoff disease, adult form -MONDO:0017724 Tay-Sachs disease, b variant, infantile form Orphanet:309178 MONDO:equivalentTo Tay-Sachs disease, B variant, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, infantile form -MONDO:0017725 Tay-Sachs disease, b variant, juvenile form Orphanet:309185 MONDO:equivalentTo Tay-Sachs disease, B variant, juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, juvenile form -MONDO:0017726 Tay-Sachs disease, B variant, adult form Orphanet:309192 MONDO:equivalentTo Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b variant, adult form -MONDO:0017727 fixed subaortic stenosis Orphanet:3092 MONDO:equivalentTo Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fixed subaortic stenosis -MONDO:0017728 Tay-Sachs disease, B1 variant Orphanet:309239 MONDO:equivalentTo Tay-Sachs disease, B1 variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tay-sachs disease, b1 variant -MONDO:0017729 metachromatic leukodystrophy, late infantile form Orphanet:309256 MONDO:equivalentTo Metachromatic leukodystrophy, late infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, late infantile form -MONDO:0017730 metachromatic leukodystrophy, adult form Orphanet:309271 MONDO:equivalentTo Metachromatic leukodystrophy, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy, adult form -MONDO:0017731 glycoproteinosis Orphanet:309279 MONDO:equivalentTo Glycoproteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycoproteinosis -MONDO:0017732 alpha-mannosidosis, infantile form Orphanet:309282 MONDO:equivalentTo Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis, infantile form -MONDO:0017733 alpha-mannosidosis, adult form Orphanet:309288 MONDO:equivalentTo Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-mannosidosis, adult form -MONDO:0017734 sialidosis Orphanet:309294 MONDO:equivalentTo Sialidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis -MONDO:0017735 congenital aortic valve stenosis Orphanet:3093 MONDO:equivalentTo Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aortic valve stenosis -MONDO:0017736 disorder of sialic acid metabolism Orphanet:309319 MONDO:equivalentTo Disorder of sialic acid metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of sialic acid metabolism -MONDO:0017737 intermediate severe Salla disease Orphanet:309331 MONDO:equivalentTo Intermediate severe Salla disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate severe salla disease -MONDO:0017738 lysosomal glycogen storage disease Orphanet:309337 MONDO:equivalentTo Lysosomal glycogen storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal glycogen storage disease -MONDO:0017739 disorder of lysosomal-related organelles Orphanet:309340 MONDO:equivalentTo Disorder of lysosomal-related organelles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of lysosomal-related organelles -MONDO:0017740 disorder of protein N-glycosylation Orphanet:309347 MONDO:equivalentTo Disorder of protein N-glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of protein n-glycosylation -MONDO:0017741 disorder of protein O-glycosylation Orphanet:309447 MONDO:equivalentTo Disorder of protein O-glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of protein o-glycosylation -MONDO:0017746 atypical Rett syndrome Orphanet:3095 MONDO:equivalentTo Atypical Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical rett syndrome -MONDO:0017747 disorder of fucoglycosan synthesis Orphanet:309505 MONDO:equivalentTo Disorder of fucoglycosan synthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of fucoglycosan synthesis -MONDO:0017749 disorder of multiple glycosylation Orphanet:309526 MONDO:equivalentTo Disorder of multiple glycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of multiple glycosylation -MONDO:0017750 defect in conserved oligomeric Golgi complex Orphanet:309568 MONDO:equivalentTo Defect in conserved oligomeric Golgi complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label defect in conserved oligomeric golgi complex -MONDO:0017752 defect in V-ATPase Orphanet:309778 MONDO:equivalentTo Defect in V-ATPase semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label defect in v-atpase -MONDO:0017757 disorder of metabolite absorption and transport Orphanet:309824 MONDO:equivalentTo Disorder of metabolite absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of metabolite absorption and transport -MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport Orphanet:309827 MONDO:equivalentTo Disorder of vitamin and non-protein cofactor absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of vitamin and non-protein cofactor absorption and transport -MONDO:0017759 disorder of catecholamine synthesis Orphanet:309830 MONDO:equivalentTo Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of catecholamine synthesis -MONDO:0017761 disorder of mineral absorption and transport Orphanet:309836 MONDO:equivalentTo Disorder of mineral absorption and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of mineral absorption and transport -MONDO:0017762 disorder of copper metabolism Orphanet:309839 MONDO:equivalentTo Disorder of copper metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of copper metabolism -MONDO:0017763 disorder of iron metabolism and transport Orphanet:309842 MONDO:equivalentTo Disorder of iron metabolism and transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of iron metabolism and transport -MONDO:0017765 disorder of magnesium transport Orphanet:309848 MONDO:equivalentTo Disorder of magnesium transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of magnesium transport -MONDO:0017766 disorder of manganese transport Orphanet:309851 MONDO:equivalentTo Disorder of manganese transport semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of manganese transport -MONDO:0017767 rheumatic fever Orphanet:3099 MONDO:equivalentTo Rheumatic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic fever -MONDO:0017768 reflex epilepsy Orphanet:310 MONDO:equivalentTo Reflex epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reflex epilepsy -MONDO:0017769 acquired immunodeficiency Orphanet:310050 MONDO:equivalentTo Acquired immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired immunodeficiency -MONDO:0017773 hypoalphalipoproteinemia Orphanet:31153 MONDO:equivalentTo Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoalphalipoproteinemia -MONDO:0017774 hypobetalipoproteinemia Orphanet:31154 MONDO:equivalentTo Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypobetalipoproteinemia -MONDO:0017775 melioidosis Orphanet:31202 MONDO:equivalentTo Melioidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melioidosis -MONDO:0017776 nocardiosis Orphanet:31204 MONDO:equivalentTo Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis -MONDO:0017778 lamellar ichthyosis Orphanet:313 MONDO:equivalentTo Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency Orphanet:3137 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency -MONDO:0017780 20p13 microdeletion syndrome Orphanet:313781 MONDO:equivalentTo 20p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20p13 microdeletion syndrome -MONDO:0017781 12p12.1 microdeletion syndrome Orphanet:313884 MONDO:equivalentTo 12p12.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12p12.1 microdeletion syndrome -MONDO:0017782 developmental and speech delay due to SOX5 deficiency Orphanet:313892 MONDO:equivalentTo Developmental and speech delay due to SOX5 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and speech delay due to sox5 deficiency -MONDO:0017783 congenital pancreatic cyst Orphanet:313906 MONDO:equivalentTo Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst -MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma Orphanet:313920 MONDO:equivalentTo Epstein-Barr virus-associated gastric carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epstein-barr virus-associated gastric carcinoma -MONDO:0017785 PENS syndrome Orphanet:313936 MONDO:equivalentTo PENS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pens syndrome -MONDO:0017786 2q23.1 microduplication syndrome Orphanet:313947 MONDO:equivalentTo 2q23.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2q23.1 microduplication syndrome -MONDO:0017787 erythroderma desquamativum Orphanet:314 MONDO:equivalentTo Erythroderma desquamativum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythroderma desquamativum -MONDO:0017789 idiopathic linear interstitial keratitis Orphanet:314017 MONDO:equivalentTo Idiopathic linear interstitial keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic linear interstitial keratitis -MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach Orphanet:314022 MONDO:equivalentTo Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric adenocarcinoma and proximal polyposis of the stomach -MONDO:0017791 high bone mass osteogenesis imperfecta Orphanet:314029 MONDO:equivalentTo High bone mass osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high bone mass osteogenesis imperfecta -MONDO:0017792 7p22.1 microduplication syndrome Orphanet:314034 MONDO:equivalentTo 7p22.1 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 7p22.1 microduplication syndrome -MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome Orphanet:314041 MONDO:equivalentTo Marfanoid habitus-inguinal hernia-advanced bone age syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfanoid habitus-inguinal hernia-advanced bone age syndrome -MONDO:0017794 Xq12-q13.3 duplication syndrome Orphanet:314389 MONDO:equivalentTo Xq12-q13.3 duplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xq12-q13.3 duplication syndrome -MONDO:0017795 ameloblastoma Orphanet:314419 MONDO:equivalentTo Ameloblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ameloblastoma -MONDO:0017798 Spigelian hernia-cryptorchidism syndrome Orphanet:314432 MONDO:equivalentTo Spigelian hernia-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spigelian hernia-cryptorchidism syndrome -MONDO:0017799 Meigs syndrome Orphanet:314451 MONDO:equivalentTo Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meigs syndrome -MONDO:0017800 pseudo-Meigs syndrome Orphanet:314459 MONDO:equivalentTo Pseudo-Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudo-meigs syndrome -MONDO:0017801 atypical Meigs syndrome Orphanet:314466 MONDO:equivalentTo Atypical Meigs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical meigs syndrome -MONDO:0017802 ovarian fibrothecoma Orphanet:314478 MONDO:equivalentTo Ovarian fibrothecoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian fibrothecoma -MONDO:0017803 primary progressive apraxia of speech Orphanet:314566 MONDO:equivalentTo Primary progressive apraxia of speech semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive apraxia of speech -MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Orphanet:314572 MONDO:equivalentTo Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Orphanet:314575 MONDO:equivalentTo Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome -MONDO:0017806 15q overgrowth syndrome Orphanet:314585 MONDO:equivalentTo 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 15q overgrowth syndrome -MONDO:0017807 growing teratoma syndrome Orphanet:314613 MONDO:equivalentTo Growing teratoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growing teratoma syndrome -MONDO:0017808 duplication of the pituitary gland Orphanet:314621 MONDO:equivalentTo Duplication of the pituitary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duplication of the pituitary gland -MONDO:0017810 variant ABeta2M amyloidosis Orphanet:314652 MONDO:equivalentTo Variant ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variant abeta2m amyloidosis -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Orphanet:314655 MONDO:equivalentTo Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion -MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia Orphanet:314662 MONDO:equivalentTo Segmental progressive overgrowth syndrome with fibroadipose hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental progressive overgrowth syndrome with fibroadipose hyperplasia -MONDO:0017814 primary bone lymphoma Orphanet:314684 MONDO:equivalentTo Primary bone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone lymphoma -MONDO:0017815 acquired porencephaly Orphanet:314697 MONDO:equivalentTo Acquired porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired porencephaly -MONDO:0017816 primary systemic amyloidosis Orphanet:314701 MONDO:equivalentTo Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary systemic amyloidosis -MONDO:0017817 primary localized amyloidosis Orphanet:314709 MONDO:equivalentTo Primary localized amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary localized amyloidosis -MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency Orphanet:314718 MONDO:equivalentTo Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal arteriopathy syndrome due to fibulin-4 deficiency -MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency Orphanet:314721 MONDO:equivalentTo Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dentin dysplasia due to smoc2 deficiency -MONDO:0017822 mixed functioning pituitary adenoma Orphanet:314759 MONDO:equivalentTo Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed functioning pituitary adenoma -MONDO:0017823 somatomammotropinoma Orphanet:314769 MONDO:equivalentTo Somatomammotropinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatomammotropinoma -MONDO:0017824 familial isolated pituitary adenoma Orphanet:314777 MONDO:equivalentTo Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated pituitary adenoma -MONDO:0017825 silent pituitary adenoma Orphanet:314786 MONDO:equivalentTo Silent pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silent pituitary adenoma -MONDO:0017826 null pituitary adenoma Orphanet:314790 MONDO:equivalentTo Null pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label null pituitary adenoma -MONDO:0017827 malignant peripheral nerve sheath tumor Orphanet:3148 MONDO:equivalentTo Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant peripheral nerve sheath tumor -MONDO:0017829 autosomal dominant proximal renal tubular acidosis Orphanet:314889 MONDO:equivalentTo Autosomal dominant proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant proximal renal tubular acidosis -MONDO:0017830 severe Canavan disease Orphanet:314911 MONDO:equivalentTo Severe Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe canavan disease -MONDO:0017831 mild Canavan disease Orphanet:314918 MONDO:equivalentTo Mild Canavan disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild canavan disease -MONDO:0017833 primary hypereosinophilic syndrome Orphanet:314950 MONDO:equivalentTo Primary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypereosinophilic syndrome -MONDO:0017834 secondary hypereosinophilic syndrome Orphanet:314962 MONDO:equivalentTo Secondary hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypereosinophilic syndrome -MONDO:0017835 lymphocytic hypereosinophilic syndrome Orphanet:314970 MONDO:equivalentTo Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic hypereosinophilic syndrome -MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Orphanet:3151 MONDO:equivalentTo Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis-ichthyosis-factor viii deficiency syndrome -MONDO:0017838 sclerosteosis Orphanet:3152 MONDO:equivalentTo Sclerosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosteosis -MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Orphanet:315306 MONDO:equivalentTo Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form -MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Orphanet:315311 MONDO:equivalentTo Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form -MONDO:0017842 Senior-Loken syndrome Orphanet:3156 MONDO:equivalentTo Senior-Loken syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-loken syndrome -MONDO:0017843 congenital pulmonary sequestration Orphanet:3161 MONDO:equivalentTo Congenital pulmonary sequestration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary sequestration -MONDO:0017845 spastic ataxia Orphanet:316226 MONDO:equivalentTo Spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia -MONDO:0017846 autosomal dominant spastic ataxia Orphanet:316235 MONDO:equivalentTo Autosomal dominant spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant spastic ataxia -MONDO:0017847 autosomal recessive spastic ataxia Orphanet:316240 MONDO:equivalentTo Autosomal recessive spastic ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic ataxia -MONDO:0017849 Siegler-Brewer-Carey syndrome Orphanet:3167 MONDO:equivalentTo Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siegler-brewer-carey syndrome -MONDO:0017850 sirenomelia Orphanet:3169 MONDO:equivalentTo Sirenomelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sirenomelia -MONDO:0017851 erythrokeratodermia variabilis Orphanet:317 MONDO:equivalentTo Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia variabilis -MONDO:0017852 infantile spasms-broad thumbs syndrome Orphanet:3173 MONDO:equivalentTo Infantile spasms-broad thumbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile spasms-broad thumbs syndrome -MONDO:0017853 hypersensitivity pneumonitis Orphanet:31740 MONDO:equivalentTo Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersensitivity pneumonitis -MONDO:0017855 T-B- severe combined immunodeficiency Orphanet:317419 MONDO:equivalentTo T-B- severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b- severe combined immunodeficiency -MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome Orphanet:3175 MONDO:equivalentTo X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spasticity-intellectual disability-epilepsy syndrome -MONDO:0017857 spina bifida-hypospadias syndrome Orphanet:3176 MONDO:equivalentTo Spina bifida-hypospadias syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida-hypospadias syndrome -MONDO:0017858 acute erythroid leukemia Orphanet:318 MONDO:equivalentTo Acute erythroid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute erythroid leukemia -MONDO:0017859 colchicine poisoning Orphanet:31824 MONDO:equivalentTo Colchicine poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colchicine poisoning -MONDO:0017860 methanol poisoning Orphanet:31825 MONDO:equivalentTo Methanol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methanol poisoning -MONDO:0017861 ethylene glycol poisoning Orphanet:31826 MONDO:equivalentTo Ethylene glycol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ethylene glycol poisoning -MONDO:0017862 paraquat poisoning Orphanet:31827 MONDO:equivalentTo Paraquat poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraquat poisoning -MONDO:0017863 digitalis poisoning Orphanet:31828 MONDO:equivalentTo Digitalis poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitalis poisoning -MONDO:0017864 congenital pulmonary veins atresia or stenosis Orphanet:3188 MONDO:equivalentTo Congenital pulmonary veins atresia or stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary veins atresia or stenosis -MONDO:0017866 subpulmonary stenosis Orphanet:3190 MONDO:equivalentTo Subpulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subpulmonary stenosis -MONDO:0017867 distal 17p13.1 microdeletion syndrome Orphanet:319171 MONDO:equivalentTo Distal 17p13.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal 17p13.1 microdeletion syndrome -MONDO:0017868 diencephalic-mesencephalic junction dysplasia Orphanet:319192 MONDO:equivalentTo Diencephalic-mesencephalic junction dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diencephalic-mesencephalic junction dysplasia -MONDO:0017869 chondroectodermal dysplasia with night blindness Orphanet:319195 MONDO:equivalentTo Chondroectodermal dysplasia with night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondroectodermal dysplasia with night blindness -MONDO:0017870 supravalvular pulmonary stenosis Orphanet:3192 MONDO:equivalentTo Supravalvular pulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supravalvular pulmonary stenosis -MONDO:0017871 bilateral massive adrenal hemorrhage Orphanet:319205 MONDO:equivalentTo Bilateral massive adrenal hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral massive adrenal hemorrhage -MONDO:0017872 Lujo hemorrhagic fever Orphanet:319213 MONDO:equivalentTo Lujo hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lujo hemorrhagic fever -MONDO:0017874 Argentine hemorrhagic fever Orphanet:319223 MONDO:equivalentTo Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argentine hemorrhagic fever -MONDO:0017875 Bolivian hemorrhagic fever Orphanet:319229 MONDO:equivalentTo Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bolivian hemorrhagic fever -MONDO:0017876 Venezuelan hemorrhagic fever Orphanet:319234 MONDO:equivalentTo Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venezuelan hemorrhagic fever -MONDO:0017877 Brazilian hemorrhagic fever Orphanet:319239 MONDO:equivalentTo Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brazilian hemorrhagic fever -MONDO:0017878 Chapare hemorrhagic fever Orphanet:319244 MONDO:equivalentTo Chapare hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chapare hemorrhagic fever -MONDO:0017879 hantavirus pulmonary syndrome Orphanet:319247 MONDO:equivalentTo Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hantavirus pulmonary syndrome -MONDO:0017880 Rift valley fever Orphanet:319251 MONDO:equivalentTo Rift valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever -MONDO:0017881 Kyasanur forest disease Orphanet:319254 MONDO:equivalentTo Kyasanur forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease -MONDO:0017882 Omsk hemorrhagic fever Orphanet:319266 MONDO:equivalentTo Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omsk hemorrhagic fever -MONDO:0017884 papillary renal cell carcinoma Orphanet:319298 MONDO:equivalentTo Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary renal cell carcinoma -MONDO:0017885 chromophobe renal cell carcinoma Orphanet:319303 MONDO:equivalentTo Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromophobe renal cell carcinoma -MONDO:0017886 MIT family translocation renal cell carcinoma Orphanet:319308 MONDO:equivalentTo MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mit family translocation renal cell carcinoma -MONDO:0017890 tubulocystic renal cell carcinoma Orphanet:319325 MONDO:equivalentTo Tubulocystic renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulocystic renal cell carcinoma -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita Orphanet:319332 MONDO:equivalentTo Autosomal recessive myogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive myogenic arthrogryposis multiplex congenita -MONDO:0017893 inherited acute myeloid leukemia Orphanet:319465 MONDO:equivalentTo Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited acute myeloid leukemia -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations Orphanet:319480 MONDO:equivalentTo Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with cebpa somatic mutations -MONDO:0017895 familial papillary or follicular thyroid carcinoma Orphanet:319487 MONDO:equivalentTo Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial papillary or follicular thyroid carcinoma -MONDO:0017896 familial nonmedullary thyroid carcinoma Orphanet:319494 MONDO:equivalentTo Familial nonmedullary thyroid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial nonmedullary thyroid carcinoma -MONDO:0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Orphanet:319569 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency -MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Orphanet:319574 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency -MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Orphanet:319589 MONDO:equivalentTo Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency -MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome Orphanet:3196 MONDO:equivalentTo Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steroid dehydrogenase deficiency-dental anomalies syndrome -MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases Orphanet:319605 MONDO:equivalentTo X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases -MONDO:0017906 amyloidosis cutis dyschromia Orphanet:319635 MONDO:equivalentTo Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis cutis dyschromia -MONDO:0017907 primary lymphoma of the conjunctiva Orphanet:319667 MONDO:equivalentTo Primary lymphoma of the conjunctiva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary lymphoma of the conjunctiva -MONDO:0017910 dehydrated hereditary stomatocytosis Orphanet:3202 MONDO:equivalentTo Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dehydrated hereditary stomatocytosis -MONDO:0017913 pure or complex hereditary spastic paraplegia Orphanet:320335 MONDO:equivalentTo Pure or complex hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure or complex hereditary spastic paraplegia -MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Orphanet:3207 MONDO:equivalentTo White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome -MONDO:0017919 exstrophy-epispadias complex Orphanet:322 MONDO:equivalentTo Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exstrophy-epispadias complex -MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Orphanet:3224 MONDO:equivalentTo Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome -MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome Orphanet:3225 MONDO:equivalentTo Hearing loss-familial salivary gland insensitivity to aldosterone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hearing loss-familial salivary gland insensitivity to aldosterone syndrome -MONDO:0017923 multiple synostoses syndrome Orphanet:3237 MONDO:equivalentTo Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome -MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome Orphanet:3240 MONDO:equivalentTo Central nervous system calcification-deafness-tubular acidosis-anemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system calcification-deafness-tubular acidosis-anemia syndrome -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis Orphanet:324294 MONDO:equivalentTo T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell immunodeficiency with epidermodysplasia verruciformis -MONDO:0017926 multiple paragangliomas associated with polycythemia Orphanet:324299 MONDO:equivalentTo Multiple paragangliomas associated with polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple paragangliomas associated with polycythemia -MONDO:0017928 9p13 microdeletion syndrome Orphanet:324313 MONDO:equivalentTo 9p13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9p13 microdeletion syndrome -MONDO:0017929 congenital achiasma Orphanet:324353 MONDO:equivalentTo Congenital achiasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital achiasma -MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations Orphanet:324364 MONDO:equivalentTo Mixed sclerosing bone dystrophy with extra-skeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed sclerosing bone dystrophy with extra-skeletal manifestations -MONDO:0017931 hereditary inclusion body myopathy type 4 Orphanet:324381 MONDO:equivalentTo Hereditary inclusion body myopathy type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary inclusion body myopathy type 4 -MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome Orphanet:324416 MONDO:equivalentTo Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular hypertrophy-hepatomegaly-polyhydramnios syndrome -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Orphanet:324540 MONDO:equivalentTo Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome -MONDO:0017935 hyperinsulinism due to HNF1A deficiency Orphanet:324575 MONDO:equivalentTo Hyperinsulinism due to HNF1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperinsulinism due to hnf1a deficiency -MONDO:0017936 benign Samaritan congenital myopathy Orphanet:324581 MONDO:equivalentTo Benign Samaritan congenital myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign samaritan congenital myopathy -MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Orphanet:324585 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain -MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Orphanet:324611 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation -MONDO:0017941 chikungunya Orphanet:324625 MONDO:equivalentTo Chikungunya semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chikungunya -MONDO:0017942 Hendra virus infection Orphanet:324632 MONDO:equivalentTo Hendra virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hendra virus infection -MONDO:0017943 autoerythrocyte sensitization syndrome Orphanet:324636 MONDO:equivalentTo Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoerythrocyte sensitization syndrome -MONDO:0017944 invasive non-typhoidal salmonellosis Orphanet:324648 MONDO:equivalentTo Invasive non-typhoidal salmonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label invasive non-typhoidal salmonellosis -MONDO:0017945 ABetaL34V amyloidosis Orphanet:324703 MONDO:equivalentTo ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetal34v amyloidosis -MONDO:0017946 ABeta amyloidosis, Iowa type Orphanet:324708 MONDO:equivalentTo ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, iowa type -MONDO:0017947 ABeta amyloidosis, Italian type Orphanet:324713 MONDO:equivalentTo ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, italian type -MONDO:0017948 ABetaA21G amyloidosis Orphanet:324718 MONDO:equivalentTo ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abetaa21g amyloidosis -MONDO:0017949 ABeta amyloidosis, Arctic type Orphanet:324723 MONDO:equivalentTo ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta amyloidosis, arctic type -MONDO:0017950 microcephalic primordial dwarfism Orphanet:324761 MONDO:equivalentTo Microcephalic primordial dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic primordial dwarfism -MONDO:0017951 trichorhinophalangeal syndrome Orphanet:324764 MONDO:equivalentTo Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichorhinophalangeal syndrome -MONDO:0017953 hereditary periodic fever syndrome Orphanet:324924 MONDO:equivalentTo Hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary periodic fever syndrome -MONDO:0017958 magic syndrome Orphanet:324972 MONDO:equivalentTo MAGIC syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magic syndrome -MONDO:0017967 testicular agenesis Orphanet:325124 MONDO:equivalentTo Testicular agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label testicular agenesis -MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency Orphanet:325524 MONDO:equivalentTo Classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic congenital lipoid adrenal hyperplasia due to star deficency -MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Orphanet:325529 MONDO:equivalentTo Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-classic congenital lipoid adrenal hyperplasia due to star deficency -MONDO:0017979 autoimmune lymphoproliferative syndrome Orphanet:3261 MONDO:equivalentTo Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0017981 syngnathia-cleft palate syndrome Orphanet:3263 MONDO:equivalentTo Syngnathia-cleft palate syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syngnathia-cleft palate syndrome -MONDO:0017983 humero-radio-ulnar synostosis Orphanet:3266 MONDO:equivalentTo Humero-radio-ulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-radio-ulnar synostosis -MONDO:0017985 congenital radioulnar synostosis Orphanet:3269 MONDO:equivalentTo Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital radioulnar synostosis -MONDO:0017986 disorder of plasmalogens biosynthesis Orphanet:3276 MONDO:equivalentTo Disorder of plasmalogens biosynthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of plasmalogens biosynthesis -MONDO:0017987 syringomyelia Orphanet:3280 MONDO:equivalentTo Syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syringomyelia -MONDO:0017988 multifocal atrial tachycardia Orphanet:3282 MONDO:equivalentTo Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal atrial tachycardia -MONDO:0017989 His bundle tachycardia Orphanet:3283 MONDO:equivalentTo His bundle tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label his bundle tachycardia -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia Orphanet:3286 MONDO:equivalentTo Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catecholaminergic polymorphic ventricular tachycardia -MONDO:0017991 Takayasu arteritis Orphanet:3287 MONDO:equivalentTo Takayasu arteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label takayasu arteritis -MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Orphanet:329173 MONDO:equivalentTo Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis -MONDO:0017993 cerebral sinovenous thrombosis Orphanet:329217 MONDO:equivalentTo Cerebral sinovenous thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral sinovenous thrombosis -MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Orphanet:329249 MONDO:equivalentTo Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency -MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome Orphanet:3293 MONDO:equivalentTo Telecanthus-hypertelorism-strabismus-pes cavus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telecanthus-hypertelorism-strabismus-pes cavus syndrome -MONDO:0017998 PLA2G6-associated neurodegeneration Orphanet:329303 MONDO:equivalentTo PLA2G6-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pla2g6-associated neurodegeneration -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration Orphanet:329308 MONDO:equivalentTo Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatty acid hydroxylase-associated neurodegeneration -MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Orphanet:329336 MONDO:equivalentTo Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -MONDO:0018004 acute megakaryoblastic leukemia without down syndrome Orphanet:329469 MONDO:equivalentTo Acute megakaryoblastic leukemia without Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia without down syndrome -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome Orphanet:329475 MONDO:equivalentTo Spastic paraplegia-Paget disease of bone syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraplegia-paget disease of bone syndrome -MONDO:0018006 adult-onset distal myopathy due to VCP mutation Orphanet:329478 MONDO:equivalentTo Adult-onset distal myopathy due to VCP mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset distal myopathy due to vcp mutation -MONDO:0018007 mosaic genome-wide paternal uniparental disomy Orphanet:329813 MONDO:equivalentTo Mosaic genome-wide paternal uniparental disomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic genome-wide paternal uniparental disomy -MONDO:0018008 idiopathic giant cell myocarditis Orphanet:329874 MONDO:equivalentTo Idiopathic giant cell myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic giant cell myocarditis -MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy Orphanet:329883 MONDO:equivalentTo Non-hypoproteinemic hypertrophic gastropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hypoproteinemic hypertrophic gastropathy -MONDO:0018010 juvenile idiopathic inflammatory myopathy Orphanet:329888 MONDO:equivalentTo Juvenile idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic inflammatory myopathy -MONDO:0018011 juvenile overlap myositis Orphanet:329894 MONDO:equivalentTo Juvenile overlap myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile overlap myositis -MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency Orphanet:329942 MONDO:equivalentTo Transient neonatal multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal multiple acyl-coa dehydrogenase deficiency -MONDO:0018015 intermittent hydrarthrosis Orphanet:329967 MONDO:equivalentTo Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis -MONDO:0018016 classic neuroendocrine tumor of appendix Orphanet:329977 MONDO:equivalentTo Classic neuroendocrine tumor of appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic neuroendocrine tumor of appendix -MONDO:0018017 goblet cell carcinoma Orphanet:329984 MONDO:equivalentTo Goblet cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goblet cell carcinoma -MONDO:0018018 wild type ATTR amyloidosis Orphanet:330001 MONDO:equivalentTo Wild type ATTR amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wild type attr amyloidosis -MONDO:0018019 lead poisoning Orphanet:330015 MONDO:equivalentTo Lead poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lead poisoning -MONDO:0018020 mercury poisoning Orphanet:330021 MONDO:equivalentTo Mercury poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mercury poisoning -MONDO:0018021 hypotrichosis-deafness syndrome Orphanet:330029 MONDO:equivalentTo Hypotrichosis-deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-deafness syndrome -MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome Orphanet:330032 MONDO:equivalentTo Hemoglobin Lepore-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin lepore-beta-thalassemia syndrome -MONDO:0018023 hemoglobin M disease Orphanet:330041 MONDO:equivalentTo Hemoglobin M disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin m disease -MONDO:0018024 hydroa vacciniforme Orphanet:330058 MONDO:equivalentTo Hydroa vacciniforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydroa vacciniforme -MONDO:0018025 chronic actinic dermatitis Orphanet:330064 MONDO:equivalentTo Chronic actinic dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic actinic dermatitis -MONDO:0018028 tetrasomy 5p Orphanet:3309 MONDO:equivalentTo Tetrasomy 5p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 5p -MONDO:0018029 congenital factor XIII deficiency Orphanet:331 MONDO:equivalentTo Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital factor xiii deficiency -MONDO:0018030 tetrasomy 9p Orphanet:3310 MONDO:equivalentTo Tetrasomy 9p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 9p -MONDO:0018034 thalidomide embryopathy Orphanet:3312 MONDO:equivalentTo Thalidomide embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thalidomide embryopathy -MONDO:0018037 hyper-IgE syndrome Orphanet:331223 MONDO:equivalentTo Hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyper-ige syndrome -MONDO:0018039 selective IgM deficiency Orphanet:331235 MONDO:equivalentTo Selective IgM deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective igm deficiency -MONDO:0018043 Thomas syndrome Orphanet:3316 MONDO:equivalentTo Thomas syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thomas syndrome -MONDO:0018044 idiopathic hypersomnia Orphanet:33208 MONDO:equivalentTo Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hypersomnia -MONDO:0018045 Hoyeraal-Hreidarsson syndrome Orphanet:3322 MONDO:equivalentTo Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hoyeraal-hreidarsson syndrome -MONDO:0018047 familial thrombomodulin anomalies Orphanet:3324 MONDO:equivalentTo Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thrombomodulin anomalies -MONDO:0018048 heparin-induced thrombocytopenia Orphanet:3325 MONDO:equivalentTo Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heparin-induced thrombocytopenia -MONDO:0018050 tibial aplasia-ectrodactyly syndrome Orphanet:3329 MONDO:equivalentTo Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibial aplasia-ectrodactyly syndrome -MONDO:0018051 Jessner lymphocytic infiltration of the skin Orphanet:33314 MONDO:equivalentTo Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jessner lymphocytic infiltration of the skin -MONDO:0018053 trichothiodystrophy Orphanet:33364 MONDO:equivalentTo Trichothiodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichothiodystrophy -MONDO:0018054 familial atrial fibrillation Orphanet:334 MONDO:equivalentTo Familial atrial fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atrial fibrillation -MONDO:0018055 pediatric hepatocellular carcinoma Orphanet:33402 MONDO:equivalentTo Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric hepatocellular carcinoma -MONDO:0018056 bullous lichen planus Orphanet:33408 MONDO:equivalentTo Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus -MONDO:0018058 tracheal agenesis Orphanet:3346 MONDO:equivalentTo Tracheal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal agenesis -MONDO:0018059 meningococcal meningitis Orphanet:33475 MONDO:equivalentTo Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis -MONDO:0018060 congenital fibrinogen deficiency Orphanet:335 MONDO:equivalentTo Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital fibrinogen deficiency -MONDO:0018061 trichodermodysplasia-dental alterations syndrome Orphanet:3353 MONDO:equivalentTo Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodermodysplasia-dental alterations syndrome -MONDO:0018063 nodular non-suppurative panniculitis Orphanet:33577 MONDO:equivalentTo Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular non-suppurative panniculitis -MONDO:0018064 trigonocephaly-broad thumbs syndrome Orphanet:3365 MONDO:equivalentTo Trigonocephaly-broad thumbs syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonocephaly-broad thumbs syndrome -MONDO:0018066 trisomy X Orphanet:3375 MONDO:equivalentTo Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x -MONDO:0018067 triploidy Orphanet:3376 MONDO:equivalentTo Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy -MONDO:0018068 trisomy 13 Orphanet:3378 MONDO:equivalentTo Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 13 -MONDO:0018071 trisomy 18 Orphanet:3380 MONDO:equivalentTo Trisomy 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy 18 -MONDO:0018075 neural tube defect Orphanet:3388 MONDO:equivalentTo Neural tube defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neural tube defect -MONDO:0018076 tuberculosis Orphanet:3389 MONDO:equivalentTo Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis -MONDO:0018077 tularemia Orphanet:3392 MONDO:equivalentTo Tularemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tularemia -MONDO:0018078 soft tissue sarcoma Orphanet:3394 MONDO:equivalentTo Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label soft tissue sarcoma -MONDO:0018079 thymic epithelial neoplasm Orphanet:3398 MONDO:equivalentTo Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic epithelial neoplasm -MONDO:0018081 hemorrhagic fever-renal syndrome Orphanet:340 MONDO:equivalentTo Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemorrhagic fever-renal syndrome -MONDO:0018082 aorto-ventricular tunnel Orphanet:3400 MONDO:equivalentTo Aorto-ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-ventricular tunnel -MONDO:0018083 transient tyrosinemia of the newborn Orphanet:3402 MONDO:equivalentTo Transient tyrosinemia of the newborn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tyrosinemia of the newborn -MONDO:0018084 Uhl anomaly Orphanet:3403 MONDO:equivalentTo Uhl anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uhl anomaly -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome Orphanet:3405 MONDO:equivalentTo Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label umbilical cord ulceration-intestinal atresia syndrome -MONDO:0018086 ulerythema ophryogenesis Orphanet:3406 MONDO:equivalentTo Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulerythema ophryogenesis -MONDO:0018087 viral hemorrhagic fever Orphanet:341 MONDO:equivalentTo Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hemorrhagic fever -MONDO:0018088 familial Mediterranean fever Orphanet:342 MONDO:equivalentTo Familial Mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever -MONDO:0018089 double outlet right ventricle Orphanet:3426 MONDO:equivalentTo Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle -MONDO:0018090 double outlet left ventricle Orphanet:3427 MONDO:equivalentTo Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome Orphanet:3433 MONDO:equivalentTo Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-brachydactyly-kyphoscoliosis syndrome -MONDO:0018092 Vogt-Koyanagi-Harada disease Orphanet:3437 MONDO:equivalentTo Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vogt-koyanagi-harada disease -MONDO:0018093 arbovirus fever Orphanet:344 MONDO:equivalentTo Arbovirus fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arbovirus fever -MONDO:0018094 Waardenburg syndrome Orphanet:3440 MONDO:equivalentTo Waardenburg syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome -MONDO:0018095 Weaver-Williams syndrome Orphanet:3448 MONDO:equivalentTo Weaver-Williams syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weaver-williams syndrome -MONDO:0018096 Weill-Marchesani syndrome Orphanet:3449 MONDO:equivalentTo Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label weill-marchesani syndrome -MONDO:0018102 corneal dystrophy Orphanet:34533 MONDO:equivalentTo Corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal dystrophy -MONDO:0018105 Wolfram syndrome Orphanet:3463 MONDO:equivalentTo Wolfram syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolfram syndrome -MONDO:0018106 hereditary xanthinuria Orphanet:3467 MONDO:equivalentTo Hereditary xanthinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary xanthinuria -MONDO:0018109 fulminant viral hepatitis Orphanet:35063 MONDO:equivalentTo Fulminant viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fulminant viral hepatitis -MONDO:0018115 epidermal nevus syndrome Orphanet:35125 MONDO:equivalentTo Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermal nevus syndrome -MONDO:0018116 galactosemia Orphanet:352 MONDO:equivalentTo Galactosemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia -MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis Orphanet:352301 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of phospholipids, sphingolipids and fatty acids biosynthesis -MONDO:0018121 mitochondrial DNA maintenance syndrome Orphanet:352456 MONDO:equivalentTo Mitochondrial DNA maintenance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna maintenance syndrome -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Orphanet:352530 MONDO:equivalentTo Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-obesity-brain malformations-facial dysmorphism syndrome -MONDO:0018124 Oncogenic osteomalacia Orphanet:352540 MONDO:equivalentTo Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oncogenic osteomalacia -MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation Orphanet:352587 MONDO:equivalentTo Focal epilepsy-intellectual disability-cerebro-cerebellar malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal epilepsy-intellectual disability-cerebro-cerebellar malformation -MONDO:0018126 progressive myoclonic epilepsy with dystonia Orphanet:352596 MONDO:equivalentTo Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy with dystonia -MONDO:0018127 16q24.1 microdeletion syndrome Orphanet:352629 MONDO:equivalentTo 16q24.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16q24.1 microdeletion syndrome -MONDO:0018128 phalangeal microgeodic syndrome Orphanet:352636 MONDO:equivalentTo Phalangeal microgeodic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phalangeal microgeodic syndrome -MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity Orphanet:352641 MONDO:equivalentTo Autosomal recessive cerebellar ataxia with late-onset spasticity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebellar ataxia with late-onset spasticity -MONDO:0018130 brain dopamine-serotonin vesicular transport disease Orphanet:352649 MONDO:equivalentTo Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain dopamine-serotonin vesicular transport disease -MONDO:0018133 attenuated Chédiak-Higashi syndrome Orphanet:352723 MONDO:equivalentTo Attenuated Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attenuated chédiak-higashi syndrome -MONDO:0018134 disorder of melanin metabolism Orphanet:352728 MONDO:equivalentTo Disorder of melanin metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder of melanin metabolism -MONDO:0018135 oculocutaneous albinism type 1 Orphanet:352731 MONDO:equivalentTo Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 1 -MONDO:0018136 minimal pigment oculocutaneous albinism type 1 Orphanet:352734 MONDO:equivalentTo Minimal pigment oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label minimal pigment oculocutaneous albinism type 1 -MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 Orphanet:352737 MONDO:equivalentTo Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label temperature-sensitive oculocutaneous albinism type 1 -MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type Orphanet:353314 MONDO:equivalentTo Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate carboxylase deficiency, severe neonatal type -MONDO:0018143 pyruvate carboxylase deficiency, benign type Orphanet:353320 MONDO:equivalentTo Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate carboxylase deficiency, benign type -MONDO:0018145 congenital retinal arteriovenous communication Orphanet:353334 MONDO:equivalentTo Congenital retinal arteriovenous communication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital retinal arteriovenous communication -MONDO:0018146 idiopathic macular telangiectasia type 1 Orphanet:353344 MONDO:equivalentTo Idiopathic macular telangiectasia type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic macular telangiectasia type 1 -MONDO:0018147 idiopathic macular telangiectasia type 3 Orphanet:353351 MONDO:equivalentTo Idiopathic macular telangiectasia type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic macular telangiectasia type 3 -MONDO:0018149 GM1 gangliosidosis Orphanet:354 MONDO:equivalentTo GM1 gangliosidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm1 gangliosidosis -MONDO:0018150 Gaucher disease Orphanet:355 MONDO:equivalentTo Gaucher disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gaucher disease -MONDO:0018151 coenzyme Q10 deficiency Orphanet:35656 MONDO:equivalentTo Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coenzyme q10 deficiency -MONDO:0018152 serpiginous choroiditis Orphanet:35686 MONDO:equivalentTo Serpiginous choroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serpiginous choroiditis -MONDO:0018153 Erdheim-Chester disease Orphanet:35687 MONDO:equivalentTo Erdheim-Chester disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erdheim-chester disease -MONDO:0018156 3q26q27 microdeletion syndrome Orphanet:356947 MONDO:equivalentTo 3q26q27 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q26q27 microdeletion syndrome -MONDO:0018158 mitochondrial DNA depletion syndrome Orphanet:35698 MONDO:equivalentTo Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome -MONDO:0018160 hereditary retinoblastoma Orphanet:357027 MONDO:equivalentTo Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary retinoblastoma -MONDO:0018161 non-hereditary retinoblastoma Orphanet:357034 MONDO:equivalentTo Non-hereditary retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hereditary retinoblastoma -MONDO:0018162 neurometabolic disorder due to serine deficiency Orphanet:35705 MONDO:equivalentTo Neurometabolic disorder due to serine deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurometabolic disorder due to serine deficiency -MONDO:0018163 autosomal recessive cutis laxa type 2A Orphanet:357058 MONDO:equivalentTo Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2a -MONDO:0018164 arterial thoracic outlet syndrome Orphanet:357107 MONDO:equivalentTo Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arterial thoracic outlet syndrome -MONDO:0018165 venous thoracic outlet syndrome Orphanet:357131 MONDO:equivalentTo Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous thoracic outlet syndrome -MONDO:0018166 oral submucous fibrosis Orphanet:357154 MONDO:equivalentTo Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis -MONDO:0018167 primary essential cutis verticis gyrata Orphanet:357220 MONDO:equivalentTo Primary essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary essential cutis verticis gyrata -MONDO:0018168 primary non-essential cutis verticis gyrata Orphanet:357225 MONDO:equivalentTo Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary non-essential cutis verticis gyrata -MONDO:0018170 idiopathic nephrotic syndrome Orphanet:357502 MONDO:equivalentTo Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic nephrotic syndrome -MONDO:0018171 malignant germ cell tumor of ovary Orphanet:35807 MONDO:equivalentTo Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant germ cell tumor of ovary -MONDO:0018172 malignant sex cord stromal tumor of ovary Orphanet:35808 MONDO:equivalentTo Malignant sex cord stromal tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant sex cord stromal tumor of ovary -MONDO:0018175 combined deficiency of factor V and factor VIII Orphanet:35909 MONDO:equivalentTo Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined deficiency of factor v and factor viii -MONDO:0018177 glioblastoma Orphanet:360 MONDO:equivalentTo Glioblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glioblastoma -MONDO:0018178 intestinal lymphangiectasia Orphanet:36204 MONDO:equivalentTo Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal lymphangiectasia -MONDO:0018180 staphylococcal scarlet fever Orphanet:36235 MONDO:equivalentTo Staphylococcal scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scarlet fever -MONDO:0018181 staphylococcal scalded skin syndrome Orphanet:36236 MONDO:equivalentTo Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome -MONDO:0018182 bullous impetigo Orphanet:36237 MONDO:equivalentTo Bullous impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous impetigo -MONDO:0018183 staphylococcal necrotizing pneumonia Orphanet:36238 MONDO:equivalentTo Staphylococcal necrotizing pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal necrotizing pneumonia -MONDO:0018184 gastric linitis plastica Orphanet:36273 MONDO:equivalentTo Gastric linitis plastica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric linitis plastica -MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy Orphanet:363447 MONDO:equivalentTo Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant childhood-onset proximal spinal muscular atrophy -MONDO:0018192 paratesticular adenocarcinoma Orphanet:363478 MONDO:equivalentTo Paratesticular adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paratesticular adenocarcinoma -MONDO:0018193 testicular teratoma Orphanet:363483 MONDO:equivalentTo Testicular teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label testicular teratoma -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form Orphanet:363534 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, hepatocerebrorenal form -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion Orphanet:363549 MONDO:equivalentTo Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute encephalopathy with biphasic seizures and late reduced diffusion -MONDO:0018199 new-onset refractory status epilepticus Orphanet:363558 MONDO:equivalentTo New-onset refractory status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label new-onset refractory status epilepticus -MONDO:0018201 extragonadal germ cell tumor Orphanet:363579 MONDO:equivalentTo Extragonadal germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal germ cell tumor -MONDO:0018202 gonadal germ cell tumor Orphanet:363582 MONDO:equivalentTo Gonadal germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadal germ cell tumor -MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome Orphanet:363618 MONDO:equivalentTo LMNA-related cardiocutaneous progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lmna-related cardiocutaneous progeria syndrome -MONDO:0018204 20q11.2 microduplication syndrome Orphanet:363659 MONDO:equivalentTo 20q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q11.2 microduplication syndrome -MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia Orphanet:363677 MONDO:equivalentTo Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset autosomal recessive myopathy with external ophthalmoplegia -MONDO:0018207 2p13.2 microdeletion syndrome Orphanet:363680 MONDO:equivalentTo 2p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p13.2 microdeletion syndrome -MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Orphanet:363700 MONDO:equivalentTo Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis type 1 due to nf1 mutation or intragenic deletion -MONDO:0018209 Alexander disease type I Orphanet:363717 MONDO:equivalentTo Alexander disease type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease type i -MONDO:0018210 Alexander disease type II Orphanet:363722 MONDO:equivalentTo Alexander disease type II semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alexander disease type ii -MONDO:0018211 Balint syndrome Orphanet:363746 MONDO:equivalentTo Balint syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balint syndrome -MONDO:0018212 familial cervical artery dissection Orphanet:36382 MONDO:equivalentTo Familial cervical artery dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial cervical artery dissection -MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 Orphanet:36386 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 1 -MONDO:0018215 paraneoplastic neurologic syndrome Orphanet:36388 MONDO:equivalentTo Paraneoplastic neurologic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic neurologic syndrome -MONDO:0018217 Koolen-de Vries syndrome due to a point mutation Orphanet:363965 MONDO:equivalentTo Koolen-De Vries syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label koolen-de vries syndrome due to a point mutation -MONDO:0018218 autosomal recessive cerebral atrophy Orphanet:363969 MONDO:equivalentTo Autosomal recessive cerebral atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cerebral atrophy -MONDO:0018221 immune hydrops fetalis Orphanet:364013 MONDO:equivalentTo Immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune hydrops fetalis -MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Orphanet:364033 MONDO:equivalentTo Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood -MONDO:0018224 hydroa vacciniforme-like lymphoma Orphanet:364039 MONDO:equivalentTo Hydroa vacciniforme-like lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydroa vacciniforme-like lymphoma -MONDO:0018225 ALK-positive large B-cell lymphoma Orphanet:364043 MONDO:equivalentTo ALK-positive large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alk-positive large b-cell lymphoma -MONDO:0018226 infantile epileptic-dyskinetic encephalopathy Orphanet:364063 MONDO:equivalentTo Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile epileptic-dyskinetic encephalopathy -MONDO:0018227 hypocomplementemic urticarial vasculitis Orphanet:36412 MONDO:equivalentTo Hypocomplementemic urticarial vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocomplementemic urticarial vasculitis -MONDO:0018228 bipartite talus Orphanet:364198 MONDO:equivalentTo Bipartite talus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bipartite talus -MONDO:0018229 Stevens-Johnson syndrome Orphanet:36426 MONDO:equivalentTo Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stevens-johnson syndrome -MONDO:0018233 otopalatodigital syndrome spectrum disorder Orphanet:364541 MONDO:equivalentTo Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otopalatodigital syndrome spectrum disorder -MONDO:0018234 dysostosis Orphanet:364559 MONDO:equivalentTo Dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis -MONDO:0018237 acrofacial dysostosis Orphanet:364574 MONDO:equivalentTo Acrofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis -MONDO:0018239 aggrecan-related bone disorder Orphanet:364817 MONDO:equivalentTo Aggrecan-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggrecan-related bone disorder -MONDO:0018240 TRPV4-related bone disorder Orphanet:364820 MONDO:equivalentTo TRPV4-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trpv4-related bone disorder -MONDO:0018242 autoimmune hypoparathyroidism Orphanet:36913 MONDO:equivalentTo Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hypoparathyroidism -MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome Orphanet:369847 MONDO:equivalentTo Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-hyperkinetic movement-truncal ataxia syndrome -MONDO:0018244 obesity due to SIM1 deficiency Orphanet:369873 MONDO:equivalentTo Obesity due to SIM1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to sim1 deficiency -MONDO:0018245 2p21 microdeletion syndrome without cystinuria Orphanet:369881 MONDO:equivalentTo 2p21 microdeletion syndrome without cystinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 2p21 microdeletion syndrome without cystinuria -MONDO:0018247 CADDS Orphanet:369942 MONDO:equivalentTo CADDS semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadds -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome Orphanet:369950 MONDO:equivalentTo Intellectual disability-seizures-macrocephaly-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-seizures-macrocephaly-obesity syndrome -MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures Orphanet:369999 MONDO:equivalentTo Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse palmoplantar keratoderma with painful fissures -MONDO:0018252 focal palmoplantar keratoderma with joint keratoses Orphanet:370002 MONDO:equivalentTo Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal palmoplantar keratoderma with joint keratoses -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome Orphanet:370010 MONDO:equivalentTo Intellectual disability-facial dysmorphism-hand anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-facial dysmorphism-hand anomalies syndrome -MONDO:0018256 acute myeloid leukemia with t(8;16)(p11;p13) translocation Orphanet:370026 MONDO:equivalentTo Acute myeloid leukemia with t(8;16)(p11;p13) translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(8;16)(p11;p13) translocation -MONDO:0018257 familial syringomyelia Orphanet:370034 MONDO:equivalentTo Familial syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial syringomyelia -MONDO:0018258 Angora hair nevus Orphanet:370039 MONDO:equivalentTo Angora hair nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angora hair nevus -MONDO:0018259 didymosis aplasticosebacea Orphanet:370046 MONDO:equivalentTo Didymosis aplasticosebacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label didymosis aplasticosebacea -MONDO:0018260 scalp syndrome Orphanet:370052 MONDO:equivalentTo SCALP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scalp syndrome -MONDO:0018261 Nevada syndrome Orphanet:370059 MONDO:equivalentTo NEVADA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nevada syndrome -MONDO:0018262 fetal anticonvulsant syndrome Orphanet:370068 MONDO:equivalentTo Fetal anticonvulsant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal anticonvulsant syndrome -MONDO:0018263 fetal carbamazepine syndrome Orphanet:370076 MONDO:equivalentTo Fetal carbamazepine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal carbamazepine syndrome -MONDO:0018264 oculocutaneous albinism type 6 Orphanet:370097 MONDO:equivalentTo Oculocutaneous albinism type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 6 -MONDO:0018268 Medich giant platelet syndrome Orphanet:370127 MONDO:equivalentTo Medich giant platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medich giant platelet syndrome -MONDO:0018269 white platelet syndrome Orphanet:370131 MONDO:equivalentTo White platelet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white platelet syndrome -MONDO:0018270 extraskeletal Ewing sarcoma Orphanet:370334 MONDO:equivalentTo Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraskeletal ewing sarcoma -MONDO:0018271 peripheral primitive neuroectodermal tumor Orphanet:370348 MONDO:equivalentTo Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral primitive neuroectodermal tumor -MONDO:0018274 GM3 synthase deficiency Orphanet:370933 MONDO:equivalentTo GM3 synthase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gm3 synthase deficiency -MONDO:0018278 congenital muscular dystrophy with intellectual disability Orphanet:370968 MONDO:equivalentTo Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with intellectual disability -MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy Orphanet:370997 MONDO:equivalentTo Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscle-eye-brain disease with bilateral multicystic leucodystrophy -MONDO:0018281 congenital muscular dystrophy with hyperlaxity Orphanet:371007 MONDO:equivalentTo Congenital muscular dystrophy with hyperlaxity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy with hyperlaxity -MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan Orphanet:371024 MONDO:equivalentTo Qualitative or quantitative defects of alpha-dystroglycan semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label qualitative or quantitative defects of alpha-dystroglycan -MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum Orphanet:371428 MONDO:equivalentTo Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multicentric osteolysis-nodulosis-arthropathy spectrum -MONDO:0018301 interstitial cystitis Orphanet:37202 MONDO:equivalentTo Interstitial cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial cystitis -MONDO:0018302 acquired kinky hair syndrome Orphanet:37559 MONDO:equivalentTo Acquired kinky hair syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired kinky hair syndrome -MONDO:0018304 Schnitzler syndrome Orphanet:37748 MONDO:equivalentTo Schnitzler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schnitzler syndrome -MONDO:0018305 chronic granulomatous disease Orphanet:379 MONDO:equivalentTo Chronic granulomatous disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic granulomatous disease -MONDO:0018306 Griscelli syndrome Orphanet:381 MONDO:equivalentTo Griscelli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label griscelli syndrome -MONDO:0018307 neurodegeneration with brain iron accumulation Orphanet:385 MONDO:equivalentTo Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodegeneration with brain iron accumulation -MONDO:0018309 Hirschsprung disease Orphanet:388 MONDO:equivalentTo Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease -MONDO:0018310 Langerhans cell histiocytosis Orphanet:389 MONDO:equivalentTo Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langerhans cell histiocytosis -MONDO:0018311 acromelanosis Orphanet:39 MONDO:equivalentTo Acromelanosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromelanosis -MONDO:0018312 histoplasmosis Orphanet:390 MONDO:equivalentTo Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis -MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Orphanet:391316 MONDO:equivalentTo Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset mesial temporal lobe epilepsy with severe cognitive regression -MONDO:0018315 X-linked osteoporosis with fractures Orphanet:391330 MONDO:equivalentTo X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked osteoporosis with fractures -MONDO:0018316 fatal post-viral neurodegenerative disorder Orphanet:391343 MONDO:equivalentTo Fatal post-viral neurodegenerative disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fatal post-viral neurodegenerative disorder -MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome Orphanet:391366 MONDO:equivalentTo Growth retardation-mild developmental delay-chronic hepatitis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label growth retardation-mild developmental delay-chronic hepatitis syndrome -MONDO:0018319 familial episodic pain syndrome Orphanet:391384 MONDO:equivalentTo Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial episodic pain syndrome -MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Orphanet:391408 MONDO:equivalentTo Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -MONDO:0018321 atypical juvenile parkinsonism Orphanet:391411 MONDO:equivalentTo Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical juvenile parkinsonism -MONDO:0018322 HSD10 disease, infantile type Orphanet:391428 MONDO:equivalentTo HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, infantile type -MONDO:0018323 HSD10 disease, neonatal type Orphanet:391457 MONDO:equivalentTo HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, neonatal type -MONDO:0018324 adult-onset myasthenia gravis Orphanet:391490 MONDO:equivalentTo Adult-onset myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset myasthenia gravis -MONDO:0018325 juvenile myasthenia gravis Orphanet:391497 MONDO:equivalentTo Juvenile myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile myasthenia gravis -MONDO:0018326 transient neonatal myasthenia gravis Orphanet:391504 MONDO:equivalentTo Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis -MONDO:0018327 glomus tumor Orphanet:391651 MONDO:equivalentTo Glomus tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glomus tumor -MONDO:0018328 homozygous familial hypercholesterolemia Orphanet:391665 MONDO:equivalentTo Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homozygous familial hypercholesterolemia -MONDO:0018330 mucinous adenocarcinoma of the appendix Orphanet:391723 MONDO:equivalentTo Mucinous adenocarcinoma of the appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucinous adenocarcinoma of the appendix -MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Orphanet:394529 MONDO:equivalentTo Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency, severe neonatal type -MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type Orphanet:394532 MONDO:equivalentTo Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple acyl-coa dehydrogenase deficiency, mild type -MONDO:0018334 chronic hiccup Orphanet:396 MONDO:equivalentTo Chronic hiccup semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic hiccup -MONDO:0018338 activated PI3K-delta syndrome Orphanet:397596 MONDO:equivalentTo Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label activated pi3k-delta syndrome -MONDO:0018339 PrP systemic amyloidosis Orphanet:397606 MONDO:equivalentTo PrP systemic amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prp systemic amyloidosis -MONDO:0018341 3q27.3 microdeletion syndrome Orphanet:397695 MONDO:equivalentTo 3q27.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q27.3 microdeletion syndrome -MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Orphanet:397715 MONDO:equivalentTo Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome with jeune asphyxiating thoracic dystrophy -MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy Orphanet:397750 MONDO:equivalentTo Periodic paralysis with later-onset distal motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis with later-onset distal motor neuropathy -MONDO:0018346 ferro-cerebro-cutaneous syndrome Orphanet:397922 MONDO:equivalentTo Ferro-cerebro-cutaneous syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ferro-cerebro-cutaneous syndrome -MONDO:0018353 refractory celiac disease Orphanet:398063 MONDO:equivalentTo Refractory celiac disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractory celiac disease -MONDO:0018354 Prader-Willi-like syndrome Orphanet:398073 MONDO:equivalentTo Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi-like syndrome -MONDO:0018355 SIM1-related Prader-Willi-like syndrome Orphanet:398079 MONDO:equivalentTo SIM1-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sim1-related prader-willi-like syndrome -MONDO:0018356 secondary neonatal autoimmune disease Orphanet:398091 MONDO:equivalentTo Secondary neonatal autoimmune disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary neonatal autoimmune disease -MONDO:0018357 neonatal antiphospholipid syndrome Orphanet:398097 MONDO:equivalentTo Neonatal antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal antiphospholipid syndrome -MONDO:0018358 neonatal autoimmune hemolytic anemia Orphanet:398109 MONDO:equivalentTo Neonatal autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal autoimmune hemolytic anemia -MONDO:0018359 neonatal dermatomyositis Orphanet:398117 MONDO:equivalentTo Neonatal dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal dermatomyositis -MONDO:0018360 neonatal lupus erythematosus Orphanet:398124 MONDO:equivalentTo Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal lupus erythematosus -MONDO:0018361 neonatal scleroderma Orphanet:398127 MONDO:equivalentTo Neonatal scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal scleroderma -MONDO:0018362 persistent idiopathic facial pain Orphanet:398147 MONDO:equivalentTo Persistent idiopathic facial pain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent idiopathic facial pain -MONDO:0018363 focal facial dermal dysplasia Orphanet:398166 MONDO:equivalentTo Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal facial dermal dysplasia -MONDO:0018364 malignant epithelial tumor of ovary Orphanet:398934 MONDO:equivalentTo Malignant epithelial tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant epithelial tumor of ovary -MONDO:0018365 malignant non-epithelial tumor of ovary Orphanet:398940 MONDO:equivalentTo Malignant non-epithelial tumor of ovary semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant non-epithelial tumor of ovary -MONDO:0018370 KLHL9-related early-onset distal myopathy Orphanet:399081 MONDO:equivalentTo KLHL9-related early-onset distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klhl9-related early-onset distal myopathy -MONDO:0018373 avascular necrosis Orphanet:399164 MONDO:equivalentTo Avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis -MONDO:0018374 secondary avascular necrosis Orphanet:399169 MONDO:equivalentTo Secondary avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary avascular necrosis -MONDO:0018375 traumatic avascular necrosis Orphanet:399175 MONDO:equivalentTo Traumatic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label traumatic avascular necrosis -MONDO:0018376 secondary non-traumatic avascular necrosis Orphanet:399180 MONDO:equivalentTo Secondary non-traumatic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary non-traumatic avascular necrosis -MONDO:0018378 osteonecrosis of the jaw Orphanet:399293 MONDO:equivalentTo Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis of the jaw -MONDO:0018379 primary avascular necrosis Orphanet:399302 MONDO:equivalentTo Primary avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary avascular necrosis -MONDO:0018380 idiopathic avascular necrosis Orphanet:399307 MONDO:equivalentTo Idiopathic avascular necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic avascular necrosis -MONDO:0018381 osteochondrosis Orphanet:399319 MONDO:equivalentTo Osteochondrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrosis -MONDO:0018382 epiphysiolysis of the hip Orphanet:399329 MONDO:equivalentTo Epiphysiolysis of the hip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiphysiolysis of the hip -MONDO:0018383 osteonecrosis of genetic origin Orphanet:399380 MONDO:equivalentTo Osteonecrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis of genetic origin -MONDO:0018384 avascular necrosis of genetic origin Orphanet:399388 MONDO:equivalentTo Avascular necrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis of genetic origin -MONDO:0018385 osteochondrosis of genetic origin Orphanet:399391 MONDO:equivalentTo Osteochondrosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondrosis of genetic origin -MONDO:0018394 male infertility with teratozoospermia due to single gene mutation Orphanet:399808 MONDO:equivalentTo Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility with teratozoospermia due to single gene mutation -MONDO:0018408 cystic echinococcosis Orphanet:400 MONDO:equivalentTo Cystic echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic echinococcosis -MONDO:0018416 autosomal recessive spastic paraplegia type 59 Orphanet:401795 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 59 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 59 -MONDO:0018417 autosomal recessive spastic paraplegia type 60 Orphanet:401800 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 60 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 60 -MONDO:0018418 autosomal recessive spastic paraplegia type 66 Orphanet:401815 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 66 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 66 -MONDO:0018419 autosomal recessive spastic paraplegia type 67 Orphanet:401820 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 67 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 67 -MONDO:0018421 autosomal recessive spastic paraplegia type 69 Orphanet:401830 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 69 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 69 -MONDO:0018422 autosomal recessive spastic paraplegia type 70 Orphanet:401835 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 70 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 70 -MONDO:0018423 autosomal recessive spastic paraplegia type 71 Orphanet:401840 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 71 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 71 -MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions Orphanet:401901 MONDO:equivalentTo Huntington disease-like syndrome due to C9ORF72 expansions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease-like syndrome due to c9orf72 expansions -MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis Orphanet:401911 MONDO:equivalentTo AXIN2-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axin2-related attenuated familial adenomatous polyposis -MONDO:0018428 9q31.1q31.3 microdeletion syndrome Orphanet:401923 MONDO:equivalentTo 9q31.1q31.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q31.1q31.3 microdeletion syndrome -MONDO:0018429 14q24.1q24.3 microdeletion syndrome Orphanet:401935 MONDO:equivalentTo 14q24.1q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 14q24.1q24.3 microdeletion syndrome -MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Orphanet:401959 MONDO:equivalentTo Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome -MONDO:0018432 lichen myxedematosus Orphanet:402007 MONDO:equivalentTo Lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen myxedematosus -MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) Orphanet:402014 MONDO:equivalentTo Acute myeloid leukemia with t(6;9)(p23;q34) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(6;9)(p23;q34) -MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) Orphanet:402017 MONDO:equivalentTo Acute myeloid leukemia with t(9;11)(p22;q23) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with t(9;11)(p22;q23) -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Orphanet:402023 MONDO:equivalentTo Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) -MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations Orphanet:402026 MONDO:equivalentTo Acute myeloid leukemia with NPM1 somatic mutations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with npm1 somatic mutations -MONDO:0018439 eosinophilic colitis Orphanet:402035 MONDO:equivalentTo Eosinophilic colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic colitis -MONDO:0018440 autosomal recessive distal renal tubular acidosis Orphanet:402041 MONDO:equivalentTo Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive distal renal tubular acidosis -MONDO:0018442 acitretin/etretinate embryopathy Orphanet:40366 MONDO:equivalentTo Acitretin/etretinate embryopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acitretin/etretinate embryopathy -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome Orphanet:404451 MONDO:equivalentTo FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome -MONDO:0018447 chondromyxoid fibroma Orphanet:404507 MONDO:equivalentTo Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromyxoid fibroma -MONDO:0018448 clear cell papillary renal cell carcinoma Orphanet:404511 MONDO:equivalentTo Clear cell papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clear cell papillary renal cell carcinoma -MONDO:0018449 acquired cystic disease-associated renal cell carcinoma Orphanet:404514 MONDO:equivalentTo Acquired cystic disease-associated renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired cystic disease-associated renal cell carcinoma -MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 Orphanet:404521 MONDO:equivalentTo Spinal muscular atrophy with respiratory distress type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy with respiratory distress type 2 -MONDO:0018453 familial atypical multiple mole melanoma syndrome Orphanet:404560 MONDO:equivalentTo Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial atypical multiple mole melanoma syndrome -MONDO:0018454 dysostosis of genetic origin Orphanet:404568 MONDO:equivalentTo Dysostosis of genetic origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis of genetic origin -MONDO:0018456 polyarticular juvenile idiopathic arthritis Orphanet:404580 MONDO:equivalentTo Polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarticular juvenile idiopathic arthritis -MONDO:0018458 familial hypocalciuric hypercalcemia Orphanet:405 MONDO:equivalentTo Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypocalciuric hypercalcemia -MONDO:0018459 isolated glycerol kinase deficiency Orphanet:408 MONDO:equivalentTo Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated glycerol kinase deficiency -MONDO:0018460 Eales disease Orphanet:40923 MONDO:equivalentTo Eales disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eales disease -MONDO:0018461 Angelman syndrome due to a point mutation Orphanet:411511 MONDO:equivalentTo Angelman syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to a point mutation -MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 Orphanet:411515 MONDO:equivalentTo Angelman syndrome due to imprinting defect in 15q11-q13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to imprinting defect in 15q11-q13 -MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity Orphanet:411536 MONDO:equivalentTo Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild phosphoribosylpyrophosphate synthetase superactivity -MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity Orphanet:411543 MONDO:equivalentTo Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe phosphoribosylpyrophosphate synthetase superactivity -MONDO:0018465 insulin autoimmune syndrome Orphanet:411593 MONDO:equivalentTo Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label insulin autoimmune syndrome -MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia Orphanet:411696 MONDO:equivalentTo Proton-pump inhibitor-responsive esophageal eosinophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proton-pump inhibitor-responsive esophageal eosinophilia -MONDO:0018469 pulmonary non-tuberculous mycobacterial infection Orphanet:411703 MONDO:equivalentTo Pulmonary non-tuberculous mycobacterial infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary non-tuberculous mycobacterial infection -MONDO:0018470 renal agenesis Orphanet:411709 MONDO:equivalentTo Renal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis -MONDO:0018471 generalized eruptive keratoacanthoma Orphanet:411777 MONDO:equivalentTo Generalized eruptive keratoacanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized eruptive keratoacanthoma -MONDO:0018472 familial isolated trichomegaly Orphanet:411788 MONDO:equivalentTo Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial isolated trichomegaly -MONDO:0018474 13q12.3 microdeletion syndrome Orphanet:412035 MONDO:equivalentTo 13q12.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 13q12.3 microdeletion syndrome -MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments Orphanet:412066 MONDO:equivalentTo PRKAR1B-related neurodegenerative dementia with intermediate filaments semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prkar1b-related neurodegenerative dementia with intermediate filaments -MONDO:0018476 dystonia-aphonia syndrome Orphanet:412217 MONDO:equivalentTo Dystonia-aphonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dystonia-aphonia syndrome -MONDO:0018477 bilirubin encephalopathy Orphanet:415286 MONDO:equivalentTo Bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilirubin encephalopathy -MONDO:0018479 congenital adrenal hyperplasia Orphanet:418 MONDO:equivalentTo Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital adrenal hyperplasia -MONDO:0018480 carcinoma of esophagus, salivary gland type Orphanet:418945 MONDO:equivalentTo Carcinoma of esophagus, salivary gland type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of esophagus, salivary gland type -MONDO:0018481 undifferentiated carcinoma of esophagus Orphanet:418951 MONDO:equivalentTo Undifferentiated carcinoma of esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of esophagus -MONDO:0018483 secondary pulmonary alveolar proteinosis Orphanet:420259 MONDO:equivalentTo Secondary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary pulmonary alveolar proteinosis -MONDO:0018484 semicircular canal dehiscence syndrome Orphanet:420402 MONDO:equivalentTo Semicircular canal dehiscence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semicircular canal dehiscence syndrome -MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset Orphanet:420429 MONDO:equivalentTo Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to acid maltase deficiency, late-onset -MONDO:0018486 visual snow syndrome Orphanet:420556 MONDO:equivalentTo Visual snow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visual snow syndrome -MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Orphanet:420699 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia due to cxcr2 deficiency -MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea Orphanet:420789 MONDO:equivalentTo Autoimmune encephalopathy with parasomnia and obstructive sleep apnea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalopathy with parasomnia and obstructive sleep apnea -MONDO:0018490 cono-spondylar dysplasia Orphanet:420794 MONDO:equivalentTo Cono-spondylar dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cono-spondylar dysplasia -MONDO:0018492 hereditary clear cell renal cell carcinoma Orphanet:422526 MONDO:equivalentTo Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary clear cell renal cell carcinoma -MONDO:0018493 malignant hyperthermia of anesthesia Orphanet:423 MONDO:equivalentTo Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant hyperthermia of anesthesia -MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Orphanet:423306 MONDO:equivalentTo Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-short stature-intellectual disability-facial dysmorphism syndrome -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome Orphanet:423479 MONDO:equivalentTo X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome -MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum Orphanet:423655 MONDO:equivalentTo ARX-related encephalopathy-brain malformation spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arx-related encephalopathy-brain malformation spectrum -MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect Orphanet:423693 MONDO:equivalentTo Double outlet right ventricle with subaortic or doubly committed ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subaortic or doubly committed ventricular septal defect -MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Orphanet:423712 MONDO:equivalentTo Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy -MONDO:0018500 cutaneous larva migrans Orphanet:423717 MONDO:equivalentTo Cutaneous larva migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous larva migrans -MONDO:0018502 hereditary gastric cancer Orphanet:423776 MONDO:equivalentTo Hereditary gastric cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary gastric cancer -MONDO:0018504 undifferentiated carcinoma of stomach Orphanet:423786 MONDO:equivalentTo Undifferentiated carcinoma of stomach semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of stomach -MONDO:0018506 mesenchymal tumor of small intestine Orphanet:423798 MONDO:equivalentTo Mesenchymal tumor of small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesenchymal tumor of small intestine -MONDO:0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome Orphanet:423894 MONDO:equivalentTo Microcephaly-complex motor and sensory axonal neuropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-complex motor and sensory axonal neuropathy syndrome -MONDO:0018509 squamous cell carcinoma of the small intestine Orphanet:423968 MONDO:equivalentTo Squamous cell carcinoma of the small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of the small intestine -MONDO:0018511 epithelial tumor of the appendix Orphanet:423982 MONDO:equivalentTo Epithelial tumor of the appendix semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial tumor of the appendix -MONDO:0018516 epithelial tumor of anal canal Orphanet:424010 MONDO:equivalentTo Epithelial tumor of anal canal semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelial tumor of anal canal -MONDO:0018521 squamous cell carcinoma of pancreas Orphanet:424039 MONDO:equivalentTo Squamous cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of pancreas -MONDO:0018525 solid pseudopapillary carcinoma of pancreas Orphanet:424065 MONDO:equivalentTo Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solid pseudopapillary carcinoma of pancreas -MONDO:0018528 congenital myopathy with myasthenic-like onset Orphanet:424107 MONDO:equivalentTo Congenital myopathy with myasthenic-like onset semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with myasthenic-like onset -MONDO:0018531 carcinoma of liver and intrahepatic biliary tract Orphanet:424936 MONDO:equivalentTo Carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of liver and intrahepatic biliary tract -MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract Orphanet:424970 MONDO:equivalentTo Undifferentiated carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated carcinoma of liver and intrahepatic biliary tract -MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract Orphanet:424975 MONDO:equivalentTo Squamous cell carcinoma of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of liver and intrahepatic biliary tract -MONDO:0018535 biliary cystadenocarcinoma Orphanet:424982 MONDO:equivalentTo Biliary cystadenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label biliary cystadenocarcinoma -MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract Orphanet:424996 MONDO:equivalentTo Squamous cell carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label squamous cell carcinoma of gallbladder and extrahepatic biliary tract -MONDO:0018540 PFAPA syndrome Orphanet:42642 MONDO:equivalentTo PFAPA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfapa syndrome -MONDO:0018541 familial hypoaldosteronism Orphanet:427 MONDO:equivalentTo Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hypoaldosteronism -MONDO:0018542 severe congenital neutropenia Orphanet:42738 MONDO:equivalentTo Severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe congenital neutropenia -MONDO:0018543 autosomal dominant hypocalcemia Orphanet:428 MONDO:equivalentTo Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant hypocalcemia -MONDO:0018546 serotonin syndrome Orphanet:43116 MONDO:equivalentTo Serotonin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serotonin syndrome -MONDO:0018547 acute tricyclic antidepressant poisoning Orphanet:43117 MONDO:equivalentTo Acute tricyclic antidepressant poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tricyclic antidepressant poisoning -MONDO:0018548 acute poisoning by drugs with membrane-stabilizing effect Orphanet:43119 MONDO:equivalentTo Acute poisoning by drugs with membrane-stabilizing effect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute poisoning by drugs with membrane-stabilizing effect -MONDO:0018551 patent urachus Orphanet:431341 MONDO:equivalentTo Patent urachus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent urachus -MONDO:0018552 urachal sinus Orphanet:431344 MONDO:equivalentTo Urachal sinus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal sinus -MONDO:0018553 urachal diverticulum Orphanet:431347 MONDO:equivalentTo Urachal diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal diverticulum -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Orphanet:431353 MONDO:equivalentTo Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -MONDO:0018556 Lambert-Eaton myasthenic syndrome Orphanet:43393 MONDO:equivalentTo Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lambert-eaton myasthenic syndrome -MONDO:0018559 fetal lower urinary tract obstruction Orphanet:435365 MONDO:equivalentTo Fetal lower urinary tract obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lower urinary tract obstruction -MONDO:0018564 3p25.3 microdeletion syndrome Orphanet:435638 MONDO:equivalentTo 3p25.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3p25.3 microdeletion syndrome -MONDO:0018565 congenital urachal anomaly Orphanet:435743 MONDO:equivalentTo Congenital urachal anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital urachal anomaly -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome Orphanet:435804 MONDO:equivalentTo Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature-advanced bone age-early-onset osteoarthritis syndrome -MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Orphanet:435819 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation -MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome Orphanet:435938 MONDO:equivalentTo X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome -MONDO:0018570 hypophosphatasia Orphanet:436 MONDO:equivalentTo Hypophosphatasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatasia -MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome Orphanet:436003 MONDO:equivalentTo Contractures-developmental delay-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures-developmental delay-pierre robin syndrome -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Orphanet:436141 MONDO:equivalentTo Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome -MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Orphanet:436144 MONDO:equivalentTo Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrauterine growth restriction-short stature-early adult-onset diabetes syndrome -MONDO:0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome Orphanet:436151 MONDO:equivalentTo Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-expressive aphasia-facial dysmorphism syndrome -MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy Orphanet:436271 MONDO:equivalentTo Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy -MONDO:0018577 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Orphanet:436274 MONDO:equivalentTo Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa -MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus Orphanet:438266 MONDO:equivalentTo Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive encephalomyelitis with rigidity and myoclonus -MONDO:0018582 GCGR-related hyperglucagonemia Orphanet:438274 MONDO:equivalentTo GCGR-related hyperglucagonemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gcgr-related hyperglucagonemia -MONDO:0018583 human infection by orthopoxvirus Orphanet:438279 MONDO:equivalentTo Human infection by orthopoxvirus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label human infection by orthopoxvirus -MONDO:0018585 pediatric arterial ischemic stroke Orphanet:439175 MONDO:equivalentTo Pediatric arterial ischemic stroke semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric arterial ischemic stroke -MONDO:0018586 zinc-responsive necrolytic acral erythema Orphanet:439196 MONDO:equivalentTo Zinc-responsive necrolytic acral erythema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zinc-responsive necrolytic acral erythema -MONDO:0018587 non-recovering obstetric brachial plexus lesion Orphanet:439202 MONDO:equivalentTo Non-recovering obstetric brachial plexus lesion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-recovering obstetric brachial plexus lesion -MONDO:0018588 ALECT2 amyloidosis Orphanet:439224 MONDO:equivalentTo ALECT2 amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alect2 amyloidosis -MONDO:0018589 AApoAIV amyloidosis Orphanet:439232 MONDO:equivalentTo AApoAIV amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aapoaiv amyloidosis -MONDO:0018590 ABeta2M amyloidosis Orphanet:439246 MONDO:equivalentTo ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abeta2m amyloidosis -MONDO:0018591 ITM2B amyloidosis Orphanet:439254 MONDO:equivalentTo ITM2B amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label itm2b amyloidosis -MONDO:0018592 cutaneous polyarteritis nodosa Orphanet:439729 MONDO:equivalentTo Cutaneous polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous polyarteritis nodosa -MONDO:0018593 primary polyarteritis nodosa Orphanet:439737 MONDO:equivalentTo Primary polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary polyarteritis nodosa -MONDO:0018594 secondary polyarteritis nodosa Orphanet:439746 MONDO:equivalentTo Secondary polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polyarteritis nodosa -MONDO:0018595 single-organ polyarteritis nodosa Orphanet:439755 MONDO:equivalentTo Single-organ polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label single-organ polyarteritis nodosa -MONDO:0018596 systemic polyarteritis nodosa Orphanet:439762 MONDO:equivalentTo Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic polyarteritis nodosa -MONDO:0018597 plastic bronchitis Orphanet:439881 MONDO:equivalentTo Plastic bronchitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plastic bronchitis -MONDO:0018599 congenital oculomotor nerve palsy Orphanet:440221 MONDO:equivalentTo Congenital oculomotor nerve palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital oculomotor nerve palsy -MONDO:0018600 congenital abducens nerve palsy Orphanet:440233 MONDO:equivalentTo Congenital abducens nerve palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital abducens nerve palsy -MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Orphanet:440354 MONDO:equivalentTo Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome -MONDO:0018602 necrotizing soft tissue infection Orphanet:440368 MONDO:equivalentTo Necrotizing soft tissue infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing soft tissue infection -MONDO:0018603 interstitial lung disease due to SP-C deficiency Orphanet:440392 MONDO:equivalentTo Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial lung disease due to sp-c deficiency -MONDO:0018604 familial colorectal cancer type X Orphanet:440437 MONDO:equivalentTo Familial colorectal cancer Type X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial colorectal cancer type x -MONDO:0018605 disorders of pentose/polyol metabolism Orphanet:440701 MONDO:equivalentTo Disorders of pentose/polyol metabolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorders of pentose/polyol metabolism -MONDO:0018606 extensive peripapillary myelinated nerve fibers Orphanet:440724 MONDO:equivalentTo Extensive peripapillary myelinated nerve fibers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extensive peripapillary myelinated nerve fibers -MONDO:0018607 combined hamartoma of the retina and retinal pigment epithelium Orphanet:440727 MONDO:equivalentTo Combined hamartoma of the retina and retinal pigment epithelium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hamartoma of the retina and retinal pigment epithelium -MONDO:0018608 pure autonomic failure Orphanet:441 MONDO:equivalentTo Pure autonomic failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure autonomic failure -MONDO:0018610 early-onset posterior subcapsular cataract Orphanet:441447 MONDO:equivalentTo Early-onset posterior subcapsular cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset posterior subcapsular cataract -MONDO:0018611 early-onset lamellar cataract Orphanet:441452 MONDO:equivalentTo Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset lamellar cataract -MONDO:0018612 congenital hypothyroidism Orphanet:442 MONDO:equivalentTo Congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hypothyroidism -MONDO:0018613 AH amyloidosis Orphanet:442582 MONDO:equivalentTo AH amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ah amyloidosis -MONDO:0018615 hemicrania continua Orphanet:443070 MONDO:equivalentTo Hemicrania continua semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemicrania continua -MONDO:0018616 central serous chorioretinopathy Orphanet:443079 MONDO:equivalentTo Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central serous chorioretinopathy -MONDO:0018617 baroreflex failure Orphanet:443084 MONDO:equivalentTo Baroreflex failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label baroreflex failure -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome Orphanet:443101 MONDO:equivalentTo Hypothalamic adipsic hypernatraemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothalamic adipsic hypernatraemia syndrome -MONDO:0018621 lymphoplasmacytic lymphoma without IgM production Orphanet:443159 MONDO:equivalentTo Lymphoplasmacytic lymphoma without IgM production semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoplasmacytic lymphoma without igm production -MONDO:0018623 postpartum psychosis Orphanet:443173 MONDO:equivalentTo Postpartum psychosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum psychosis -MONDO:0018624 spontaneous intracranial hypotension Orphanet:443180 MONDO:equivalentTo Spontaneous intracranial hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous intracranial hypotension -MONDO:0018625 classic stiff person syndrome Orphanet:443192 MONDO:equivalentTo Classic stiff person syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic stiff person syndrome -MONDO:0018626 paratyphoid fever Orphanet:443227 MONDO:equivalentTo Paratyphoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paratyphoid fever -MONDO:0018628 HIV-associated cancer Orphanet:443291 MONDO:equivalentTo HIV-associated cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hiv-associated cancer -MONDO:0018629 focal stiff limb syndrome Orphanet:443804 MONDO:equivalentTo Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal stiff limb syndrome -MONDO:0018630 hereditary nonpolyposis colon cancer Orphanet:443909 MONDO:equivalentTo Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary nonpolyposis colon cancer -MONDO:0018631 Marie Unna hereditary hypotrichosis Orphanet:444 MONDO:equivalentTo Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marie unna hereditary hypotrichosis -MONDO:0018632 11q22.2q22.3 microdeletion syndrome Orphanet:444002 MONDO:equivalentTo 11q22.2q22.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 11q22.2q22.3 microdeletion syndrome -MONDO:0018633 20q11.2 microdeletion syndrome Orphanet:444051 MONDO:equivalentTo 20q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 20q11.2 microdeletion syndrome -MONDO:0018634 hereditary amyloidosis Orphanet:444116 MONDO:equivalentTo Hereditary amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary amyloidosis -MONDO:0018635 idiopathic phalangeal acro-osteolysis Orphanet:444316 MONDO:equivalentTo Idiopathic phalangeal acro-osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic phalangeal acro-osteolysis -MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Orphanet:444463 MONDO:equivalentTo Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome -MONDO:0018637 familial chylomicronemia syndrome Orphanet:444490 MONDO:equivalentTo Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial chylomicronemia syndrome -MONDO:0018638 pseudohypoaldosteronism Orphanet:444916 MONDO:equivalentTo Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism -MONDO:0018639 caudal regression-sirenomelia spectrum Orphanet:444941 MONDO:equivalentTo Caudal regression-sirenomelia spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caudal regression-sirenomelia spectrum -MONDO:0018640 secondary vasculitis Orphanet:445197 MONDO:equivalentTo Secondary vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary vasculitis -MONDO:0018642 NIK deficiency Orphanet:447731 MONDO:equivalentTo NIK deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nik deficiency -MONDO:0018643 susceptibility to localized juvenile periodontitis Orphanet:447740 MONDO:equivalentTo Susceptibility to localized juvenile periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susceptibility to localized juvenile periodontitis -MONDO:0018645 IgG4-related sclerosing cholangitis Orphanet:447764 MONDO:equivalentTo IgG4-related sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related sclerosing cholangitis -MONDO:0018646 sclerosing cholangitis Orphanet:447771 MONDO:equivalentTo Sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing cholangitis -MONDO:0018647 secondary sclerosing cholangitis Orphanet:447774 MONDO:equivalentTo Secondary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary sclerosing cholangitis -MONDO:0018648 Keratocystic odontogenic tumor Orphanet:447777 MONDO:equivalentTo Keratocystic odontogenic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratocystic odontogenic tumor -MONDO:0018653 Polymerase proofreading-related adenomatous polyposis Orphanet:447877 MONDO:equivalentTo Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymerase proofreading-related adenomatous polyposis -MONDO:0018654 idiopathic dropped head syndrome Orphanet:447881 MONDO:equivalentTo Idiopathic dropped head syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic dropped head syndrome -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome Orphanet:447893 MONDO:equivalentTo Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome -MONDO:0018656 tremor-ataxia-central hypomyelination syndrome Orphanet:447896 MONDO:equivalentTo Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tremor-ataxia-central hypomyelination syndrome -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome Orphanet:447961 MONDO:equivalentTo Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome -MONDO:0018658 19p13.3 microduplication syndrome Orphanet:447980 MONDO:equivalentTo 19p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 19p13.3 microduplication syndrome -MONDO:0018659 partial duplication of the short arm of chromosome 19 Orphanet:447985 MONDO:equivalentTo Partial duplication of the short arm of chromosome 19 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial duplication of the short arm of chromosome 19 -MONDO:0018660 hemophilia Orphanet:448 MONDO:equivalentTo Hemophilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia -MONDO:0018662 autosomal recessive brachyolmia Orphanet:448242 MONDO:equivalentTo Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive brachyolmia -MONDO:0018663 regressive spondylometaphyseal dysplasia Orphanet:448267 MONDO:equivalentTo Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regressive spondylometaphyseal dysplasia -MONDO:0018664 ectopia cordis Orphanet:448270 MONDO:equivalentTo Ectopia cordis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopia cordis -MONDO:0018666 hepatoblastoma Orphanet:449 MONDO:equivalentTo Hepatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoblastoma -MONDO:0018667 pleural empyema Orphanet:449266 MONDO:equivalentTo Pleural empyema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural empyema -MONDO:0018668 scedosporiosis Orphanet:449280 MONDO:equivalentTo Scedosporiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scedosporiosis -MONDO:0018669 snakebite envenomation Orphanet:449285 MONDO:equivalentTo Snakebite envenomation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label snakebite envenomation -MONDO:0018671 IgG4-related kidney disease Orphanet:449395 MONDO:equivalentTo IgG4-related kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related kidney disease -MONDO:0018672 IgG4-related aortitis Orphanet:449400 MONDO:equivalentTo IgG4-related aortitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related aortitis -MONDO:0018673 IgG4-related pachymeningitis Orphanet:449427 MONDO:equivalentTo IgG4-related pachymeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related pachymeningitis -MONDO:0018674 IgG4-related submandibular gland disease Orphanet:449432 MONDO:equivalentTo IgG4-related submandibular gland disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related submandibular gland disease -MONDO:0018676 eosinophilic angiocentric fibrosis Orphanet:449566 MONDO:equivalentTo Eosinophilic angiocentric fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilic angiocentric fibrosis -MONDO:0018678 polyclonal hyperviscosity syndrome Orphanet:450322 MONDO:equivalentTo Polyclonal hyperviscosity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyclonal hyperviscosity syndrome -MONDO:0018679 primary cutaneous plasmacytosis Orphanet:451602 MONDO:equivalentTo Primary cutaneous plasmacytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous plasmacytosis -MONDO:0018680 cutaneous pseudolymphoma Orphanet:451607 MONDO:equivalentTo Cutaneous pseudolymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous pseudolymphoma -MONDO:0018682 congenital insensitivity to pain with severe intellectual disability Orphanet:453510 MONDO:equivalentTo Congenital insensitivity to pain with severe intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital insensitivity to pain with severe intellectual disability -MONDO:0018683 acquired ichthyosis Orphanet:454 MONDO:equivalentTo Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis -MONDO:0018684 idiopathic neonatal atrial flutter Orphanet:45452 MONDO:equivalentTo Idiopathic neonatal atrial flutter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic neonatal atrial flutter -MONDO:0018685 incessant infant ventricular tachycardia Orphanet:45453 MONDO:equivalentTo Incessant infant ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incessant infant ventricular tachycardia -MONDO:0018686 acquired Creutzfeldt-Jakob disease Orphanet:454700 MONDO:equivalentTo Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired creutzfeldt-jakob disease -MONDO:0018687 progressive muscular atrophy Orphanet:454706 MONDO:equivalentTo Progressive muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive muscular atrophy -MONDO:0018688 anti-p200 pemphigoid Orphanet:454710 MONDO:equivalentTo Anti-p200 pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anti-p200 pemphigoid -MONDO:0018689 plasma cell leukemia Orphanet:454714 MONDO:equivalentTo Plasma cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasma cell leukemia -MONDO:0018690 Holmes-Adie syndrome Orphanet:454718 MONDO:equivalentTo Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holmes-adie syndrome -MONDO:0018692 variably protease-sensitive prionopathy Orphanet:454742 MONDO:equivalentTo Variably protease-sensitive prionopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label variably protease-sensitive prionopathy -MONDO:0018695 avian influenza Orphanet:454836 MONDO:equivalentTo Avian influenza semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avian influenza -MONDO:0018696 corticobasal syndrome Orphanet:454887 MONDO:equivalentTo Corticobasal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticobasal syndrome -MONDO:0018697 1p35.2 microdeletion syndrome Orphanet:456298 MONDO:equivalentTo 1p35.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 1p35.2 microdeletion syndrome -MONDO:0018698 hereditary neuroendocrine tumor of small intestine Orphanet:456333 MONDO:equivalentTo Hereditary neuroendocrine tumor of small intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary neuroendocrine tumor of small intestine -MONDO:0018701 congenital nemaline myopathy Orphanet:457074 MONDO:equivalentTo Congenital nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital nemaline myopathy -MONDO:0018703 isolated splenogonadal fusion Orphanet:457083 MONDO:equivalentTo Isolated splenogonadal fusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated splenogonadal fusion -MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Orphanet:457205 MONDO:equivalentTo Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome -MONDO:0018706 syndromic sensorineural deafness due to combined oxidative phosphorylation defect Orphanet:457223 MONDO:equivalentTo Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic sensorineural deafness due to combined oxidative phosphorylation defect -MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome Orphanet:457260 MONDO:equivalentTo X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypotonia-movement disorder syndrome -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome Orphanet:457359 MONDO:equivalentTo Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-severe kyphoscoliosis-overgrowth syndrome -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Orphanet:457365 MONDO:equivalentTo Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome -MONDO:0018712 composite hemangioendothelioma Orphanet:458758 MONDO:equivalentTo Composite hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label composite hemangioendothelioma -MONDO:0018713 retiform hemangioendothelioma Orphanet:458763 MONDO:equivalentTo Retiform hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retiform hemangioendothelioma -MONDO:0018714 primary intralymphatic angioendothelioma Orphanet:458768 MONDO:equivalentTo Primary intralymphatic angioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intralymphatic angioendothelioma -MONDO:0018715 congenital hemangioma Orphanet:458775 MONDO:equivalentTo Congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hemangioma -MONDO:0018716 partially involuting congenital hemangioma Orphanet:458785 MONDO:equivalentTo Partially involuting congenital hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partially involuting congenital hemangioma -MONDO:0018717 mixed cystic lymphatic malformation Orphanet:458792 MONDO:equivalentTo Mixed cystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed cystic lymphatic malformation -MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome Orphanet:459070 MONDO:equivalentTo X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome Orphanet:459074 MONDO:equivalentTo Corpus callosum agenesis-macrocephaly-hypertelorism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus callosum agenesis-macrocephaly-hypertelorism syndrome -MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:459787 MONDO:equivalentTo Lethal multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation Orphanet:464311 MONDO:equivalentTo Intellectual disability syndrome due to a DYRK1A point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability syndrome due to a dyrk1a point mutation -MONDO:0018734 verrucous hemangioma Orphanet:464318 MONDO:equivalentTo Verrucous hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verrucous hemangioma -MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Orphanet:464321 MONDO:equivalentTo Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome -MONDO:0018736 kaposiform lymphangiomatosis Orphanet:464329 MONDO:equivalentTo Kaposiform lymphangiomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kaposiform lymphangiomatosis -MONDO:0018737 catastrophic antiphospholipid syndrome Orphanet:464343 MONDO:equivalentTo Catastrophic antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label catastrophic antiphospholipid syndrome -MONDO:0018738 benign metanephric tumor Orphanet:464359 MONDO:equivalentTo Benign metanephric tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign metanephric tumor -MONDO:0018739 neonatal alloimmune neutropenia Orphanet:464370 MONDO:equivalentTo Neonatal alloimmune neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal alloimmune neutropenia -MONDO:0018741 paracetamol poisoning Orphanet:464458 MONDO:equivalentTo Paracetamol poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracetamol poisoning -MONDO:0018742 familial gastric type 1 neuroendocrine tumor Orphanet:464756 MONDO:equivalentTo Familial gastric type 1 neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial gastric type 1 neuroendocrine tumor -MONDO:0018744 oligodendroglial tumor Orphanet:46484 MONDO:equivalentTo Oligodendroglial tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligodendroglial tumor -MONDO:0018746 mucous membrane pemphigoid Orphanet:46486 MONDO:equivalentTo Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucous membrane pemphigoid -MONDO:0018748 linear IgA Dermatosis Orphanet:46488 MONDO:equivalentTo Linear IgA dermatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear iga dermatosis -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Orphanet:46532 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome -MONDO:0018752 exercise-induced malignant hyperthermia Orphanet:466650 MONDO:equivalentTo Exercise-induced malignant hyperthermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exercise-induced malignant hyperthermia -MONDO:0018754 cyanide poisoning Orphanet:466670 MONDO:equivalentTo Cyanide poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cyanide poisoning -MONDO:0018755 scorpion envenomation Orphanet:466677 MONDO:equivalentTo Scorpion envenomation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scorpion envenomation -MONDO:0018756 euthyroid Graves orbitopathy Orphanet:466682 MONDO:equivalentTo Euthyroid Graves orbitopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euthyroid graves orbitopathy -MONDO:0018757 supratip dysplasia Orphanet:466695 MONDO:equivalentTo Supratip dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label supratip dysplasia -MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Orphanet:466921 MONDO:equivalentTo Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome -MONDO:0018761 SMARCA4-deficient sarcoma of thorax Orphanet:466962 MONDO:equivalentTo SMARCA4-deficient sarcoma of thorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smarca4-deficient sarcoma of thorax -MONDO:0018762 non-acquired combined pituitary hormone deficiency Orphanet:467 MONDO:equivalentTo Non-acquired combined pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-acquired combined pituitary hormone deficiency -MONDO:0018763 tubulinopathy-associated dysgyria Orphanet:467166 MONDO:equivalentTo Tubulinopathy-associated dysgyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubulinopathy-associated dysgyria -MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis Orphanet:468635 MONDO:equivalentTo Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptogenic multifocal ulcerous stenosing enteritis -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene Orphanet:468641 MONDO:equivalentTo Chronic enteropathy associated with SLCO2A1 gene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic enteropathy associated with slco2a1 gene -MONDO:0018767 severe primary trimethylaminuria Orphanet:468726 MONDO:equivalentTo Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe primary trimethylaminuria -MONDO:0018769 isosporiasis Orphanet:472 MONDO:equivalentTo Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis -MONDO:0018770 Jeune syndrome Orphanet:474 MONDO:equivalentTo Jeune syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jeune syndrome -MONDO:0018772 Joubert syndrome Orphanet:475 MONDO:equivalentTo Joubert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label joubert syndrome -MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Orphanet:476093 MONDO:equivalentTo Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome -MONDO:0018774 erythrokeratodermia-cardiomyopathy syndrome Orphanet:476096 MONDO:equivalentTo Erythrokeratodermia-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratodermia-cardiomyopathy syndrome -MONDO:0018776 demyelinating hereditary motor and sensory neuropathy Orphanet:476116 MONDO:equivalentTo Demyelinating hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label demyelinating hereditary motor and sensory neuropathy -MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Orphanet:476119 MONDO:equivalentTo Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome -MONDO:0018778 intermediate Charcot-Marie-Tooth disease Orphanet:476123 MONDO:equivalentTo Intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate charcot-marie-tooth disease -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome Orphanet:476406 MONDO:equivalentTo Congenital generalized hypercontractile muscle stiffness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized hypercontractile muscle stiffness syndrome -MONDO:0018781 KID syndrome Orphanet:477 MONDO:equivalentTo KID syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kid syndrome -MONDO:0018783 fibroblastic rheumatism Orphanet:477650 MONDO:equivalentTo Fibroblastic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibroblastic rheumatism -MONDO:0018784 pediatric multiple sclerosis Orphanet:477738 MONDO:equivalentTo Pediatric multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric multiple sclerosis -MONDO:0018793 primary condylar hyperplasia Orphanet:477781 MONDO:equivalentTo Primary condylar hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary condylar hyperplasia -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Orphanet:477787 MONDO:equivalentTo Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder -MONDO:0018795 syndromic constitutional thrombocytopenia Orphanet:477794 MONDO:equivalentTo Syndromic constitutional thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic constitutional thrombocytopenia -MONDO:0018800 Kallmann syndrome Orphanet:478 MONDO:equivalentTo Kallmann syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kallmann syndrome -MONDO:0018801 congenital bilateral absence of vas deferens Orphanet:48 MONDO:equivalentTo Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral absence of vas deferens -MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis Orphanet:480491 MONDO:equivalentTo MYO5B-related progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myo5b-related progressive familial intrahepatic cholestasis -MONDO:0018806 primary intrahepatic lithiasis Orphanet:480506 MONDO:equivalentTo Primary intrahepatic lithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary intrahepatic lithiasis -MONDO:0018807 idiopathic ductopenia Orphanet:480512 MONDO:equivalentTo Idiopathic ductopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic ductopenia -MONDO:0018808 Caroli syndrome Orphanet:480520 MONDO:equivalentTo Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome -MONDO:0018809 idiopathic peliosis hepatis Orphanet:480524 MONDO:equivalentTo Idiopathic peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peliosis hepatis -MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome Orphanet:480528 MONDO:equivalentTo Lethal hydranencephaly-diaphragmatic hernia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal hydranencephaly-diaphragmatic hernia syndrome -MONDO:0018811 congenital portosystemic shunt Orphanet:480531 MONDO:equivalentTo Congenital portosystemic shunt semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital portosystemic shunt -MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis Orphanet:480536 MONDO:equivalentTo MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label msh3-related attenuated familial adenomatous polyposis -MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement Orphanet:480541 MONDO:equivalentTo High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement -MONDO:0018815 aneurysmal bone cyst Orphanet:480553 MONDO:equivalentTo Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst -MONDO:0018816 isolated neonatal sclerosing cholangitis Orphanet:480556 MONDO:equivalentTo Isolated neonatal sclerosing cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated neonatal sclerosing cholangitis -MONDO:0018818 facial diplegia with paresthesias Orphanet:480701 MONDO:equivalentTo Facial diplegia with paresthesias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial diplegia with paresthesias -MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Orphanet:480864 MONDO:equivalentTo Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome -MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability Orphanet:480880 MONDO:equivalentTo X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability -MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Orphanet:480898 MONDO:equivalentTo Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome -MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome Orphanet:480907 MONDO:equivalentTo X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome -MONDO:0018824 pyoderma gangrenosum Orphanet:48104 MONDO:equivalentTo Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum -MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy Orphanet:481152 MONDO:equivalentTo PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pycr2-related microcephaly-progressive leukoencephalopathy -MONDO:0018826 Lewis-Sumner syndrome Orphanet:48162 MONDO:equivalentTo Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lewis-sumner syndrome -MONDO:0018827 familial chilblain lupus Orphanet:481662 MONDO:equivalentTo Familial Chilblain lupus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial chilblain lupus -MONDO:0018829 familial schizencephaly Orphanet:481986 MONDO:equivalentTo Familial schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial schizencephaly -MONDO:0018830 Kimura disease Orphanet:482 MONDO:equivalentTo Kimura disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kimura disease -MONDO:0018832 HTRA1-related autosomal dominant cerebral small vessel disease Orphanet:482077 MONDO:equivalentTo HTRA1-related autosomal dominant cerebral small vessel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label htra1-related autosomal dominant cerebral small vessel disease -MONDO:0018835 nodular regenerative hyperplasia of the liver Orphanet:48372 MONDO:equivalentTo Nodular regenerative hyperplasia of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular regenerative hyperplasia of the liver -MONDO:0018837 postinfectious vasculitis Orphanet:48435 MONDO:equivalentTo Postinfectious vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious vasculitis -MONDO:0018839 acquired schizencephaly Orphanet:485275 MONDO:equivalentTo Acquired schizencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired schizencephaly -MONDO:0018840 isolated congenital hepatic fibrosis Orphanet:485426 MONDO:equivalentTo Isolated congenital hepatic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hepatic fibrosis -MONDO:0018841 congenital bile acid synthesis defect Orphanet:485631 MONDO:equivalentTo Congenital bile acid synthesis defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bile acid synthesis defect -MONDO:0018842 primary effusion lymphoma Orphanet:48686 MONDO:equivalentTo Primary effusion lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary effusion lymphoma -MONDO:0018843 embryonal carcinoma of the central nervous system Orphanet:48736 MONDO:equivalentTo Embryonal carcinoma of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonal carcinoma of the central nervous system -MONDO:0018844 urachal cyst Orphanet:488 MONDO:equivalentTo Urachal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urachal cyst -MONDO:0018845 focal myositis Orphanet:48918 MONDO:equivalentTo Focal myositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label focal myositis -MONDO:0018846 penile agenesis Orphanet:49 MONDO:equivalentTo Penile agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label penile agenesis -MONDO:0018847 omphalomesenteric cyst Orphanet:490 MONDO:equivalentTo Omphalomesenteric cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalomesenteric cyst -MONDO:0018848 IgG4-related retroperitoneal fibrosis Orphanet:49041 MONDO:equivalentTo IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related retroperitoneal fibrosis -MONDO:0018849 dentinogenesis imperfecta Orphanet:49042 MONDO:equivalentTo Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta -MONDO:0018850 proliferating trichilemmal cyst Orphanet:492 MONDO:equivalentTo Proliferating trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proliferating trichilemmal cyst -MONDO:0018851 familial keratoacanthoma Orphanet:493 MONDO:equivalentTo Familial keratoacanthoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial keratoacanthoma -MONDO:0018852 achromatopsia Orphanet:49382 MONDO:equivalentTo Achromatopsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achromatopsia -MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma Orphanet:495 MONDO:equivalentTo Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transgrediens et progrediens palmoplantar keratoderma -MONDO:0018854 acquired purpura fulminans Orphanet:49566 MONDO:equivalentTo Acquired purpura fulminans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired purpura fulminans -MONDO:0018855 keratosis pilaris atrophicans Orphanet:498 MONDO:equivalentTo Keratosis pilaris atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis pilaris atrophicans -MONDO:0018856 lichen amyloidosis Orphanet:49804 MONDO:equivalentTo Lichen amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen amyloidosis -MONDO:0018857 creeping myiasis Orphanet:504 MONDO:equivalentTo Creeping myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label creeping myiasis -MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome Orphanet:505 MONDO:equivalentTo Graham Little-Piccardi-Lassueur syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label graham little-piccardi-lassueur syndrome -MONDO:0018860 microlissencephaly-micromelia syndrome Orphanet:50810 MONDO:equivalentTo Microlissencephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microlissencephaly-micromelia syndrome -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies Orphanet:50812 MONDO:equivalentTo Zellweger-like syndrome without peroxisomal anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zellweger-like syndrome without peroxisomal anomalies -MONDO:0018864 Kikuchi-Fujimoto disease Orphanet:50918 MONDO:equivalentTo Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kikuchi-fujimoto disease -MONDO:0018865 striate palmoplantar keratoderma Orphanet:50942 MONDO:equivalentTo Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label striate palmoplantar keratoderma -MONDO:0018868 metachromatic leukodystrophy Orphanet:512 MONDO:equivalentTo Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy -MONDO:0018869 cobblestone lissencephaly Orphanet:51577 MONDO:equivalentTo Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cobblestone lissencephaly -MONDO:0018872 acute megakaryoblastic leukemia Orphanet:518 MONDO:equivalentTo Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia -MONDO:0018873 anterior cutaneous nerve entrapment syndrome Orphanet:51890 MONDO:equivalentTo Anterior cutaneous nerve entrapment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior cutaneous nerve entrapment syndrome -MONDO:0018874 acute myeloid leukemia Orphanet:519 MONDO:equivalentTo Acute myeloid leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia -MONDO:0018875 Li-Fraumeni syndrome Orphanet:524 MONDO:equivalentTo Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome -MONDO:0018876 mantle cell lymphoma Orphanet:52416 MONDO:equivalentTo Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma -MONDO:0018877 retinitis punctata albescens Orphanet:52427 MONDO:equivalentTo Retinitis punctata albescens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis punctata albescens -MONDO:0018878 branchiootic syndrome Orphanet:52429 MONDO:equivalentTo Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome -MONDO:0018879 lichen planopilaris Orphanet:525 MONDO:equivalentTo Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris -MONDO:0018881 myelodysplastic syndrome Orphanet:52688 MONDO:equivalentTo Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelodysplastic syndrome -MONDO:0018882 vasculitis Orphanet:52759 MONDO:equivalentTo Vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasculitis -MONDO:0018884 Roch-Leri mesosomatous lipomatosis Orphanet:529 MONDO:equivalentTo Roch-Leri mesosomatous lipomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label roch-leri mesosomatous lipomatosis -MONDO:0018885 orbital leiomyoma Orphanet:52994 MONDO:equivalentTo Orbital leiomyoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital leiomyoma -MONDO:0018891 familial tumoral calcinosis Orphanet:53715 MONDO:equivalentTo Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial tumoral calcinosis -MONDO:0018892 Wyburn-Mason syndrome Orphanet:53719 MONDO:equivalentTo Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wyburn-mason syndrome -MONDO:0018894 distal hereditary motor neuropathy Orphanet:53739 MONDO:equivalentTo Distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal hereditary motor neuropathy -MONDO:0018895 Plummer-Vinson syndrome Orphanet:54028 MONDO:equivalentTo Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plummer-vinson syndrome -MONDO:0018896 thrombotic thrombocytopenic purpura Orphanet:54057 MONDO:equivalentTo Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic thrombocytopenic purpura -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease Orphanet:541 MONDO:equivalentTo Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous cd30+ t-cell lymphoproliferative disease -MONDO:0018898 primary cutaneous lymphoma Orphanet:542 MONDO:equivalentTo Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous lymphoma -MONDO:0018899 posterior cortical atrophy Orphanet:54247 MONDO:equivalentTo Posterior cortical atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior cortical atrophy -MONDO:0018900 corticosteroid-sensitive aseptic abscess syndrome Orphanet:54251 MONDO:equivalentTo Corticosteroid-sensitive aseptic abscess syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corticosteroid-sensitive aseptic abscess syndrome -MONDO:0018901 left ventricular noncompaction Orphanet:54260 MONDO:equivalentTo Left ventricular noncompaction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label left ventricular noncompaction -MONDO:0018902 hepatocellular adenoma Orphanet:54272 MONDO:equivalentTo Hepatocellular adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatocellular adenoma -MONDO:0018903 sarcocystosis Orphanet:54368 MONDO:equivalentTo Sarcocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcocystosis -MONDO:0018904 primary membranoproliferative glomerulonephritis Orphanet:54370 MONDO:equivalentTo Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary membranoproliferative glomerulonephritis -MONDO:0018905 diffuse large B-cell lymphoma Orphanet:544 MONDO:equivalentTo Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma -MONDO:0018906 follicular lymphoma Orphanet:545 MONDO:equivalentTo Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma -MONDO:0018907 craniopharyngioma Orphanet:54595 MONDO:equivalentTo Craniopharyngioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniopharyngioma -MONDO:0018908 non-Hodgkin lymphoma Orphanet:547 MONDO:equivalentTo Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-hodgkin lymphoma -MONDO:0018910 oculocutaneous albinism Orphanet:55 MONDO:equivalentTo Oculocutaneous albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism -MONDO:0018913 malakoplakia Orphanet:556 MONDO:equivalentTo Malakoplakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malakoplakia -MONDO:0018914 hypotrichosis simplex Orphanet:55654 MONDO:equivalentTo Hypotrichosis simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis simplex -MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract Orphanet:56044 MONDO:equivalentTo Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of gallbladder and extrahepatic biliary tract -MONDO:0018919 McCune-Albright syndrome Orphanet:562 MONDO:equivalentTo McCune-Albright syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mccune-albright syndrome -MONDO:0018920 peripartum cardiomyopathy Orphanet:563 MONDO:equivalentTo Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripartum cardiomyopathy -MONDO:0018921 Meckel syndrome Orphanet:564 MONDO:equivalentTo Meckel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel syndrome -MONDO:0018922 cold agglutinin disease Orphanet:56425 MONDO:equivalentTo Cold agglutinin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cold agglutinin disease -MONDO:0018923 22q11.2 deletion syndrome Orphanet:567 MONDO:equivalentTo 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome -MONDO:0018924 microphthalmia, Lenz type Orphanet:568 MONDO:equivalentTo Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microphthalmia, lenz type -MONDO:0018925 familial or sporadic hemiplegic migraine Orphanet:569 MONDO:equivalentTo Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial or sporadic hemiplegic migraine -MONDO:0018926 human prion disease Orphanet:56970 MONDO:equivalentTo Human prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label human prion disease -MONDO:0018927 SUNCT syndrome Orphanet:57145 MONDO:equivalentTo SUNCT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunct syndrome -MONDO:0018929 medial condensing osteitis of the clavicle Orphanet:57196 MONDO:equivalentTo Medial condensing osteitis of the clavicle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label medial condensing osteitis of the clavicle -MONDO:0018932 cirrhotic cardiomyopathy Orphanet:57777 MONDO:equivalentTo Cirrhotic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhotic cardiomyopathy -MONDO:0018933 Mazabraud syndrome Orphanet:57782 MONDO:equivalentTo Mazabraud syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mazabraud syndrome -MONDO:0018936 osteoblastoma Orphanet:58040 MONDO:equivalentTo Osteoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoblastoma -MONDO:0018937 mucopolysaccharidosis type 3 Orphanet:581 MONDO:equivalentTo Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 3 -MONDO:0018938 mucopolysaccharidosis type 4 Orphanet:582 MONDO:equivalentTo Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis type 4 -MONDO:0018939 muscle-eye-brain disease Orphanet:588 MONDO:equivalentTo Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscle-eye-brain disease -MONDO:0018940 congenital myasthenic syndrome Orphanet:590 MONDO:equivalentTo Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myasthenic syndrome -MONDO:0018941 furuncular myiasis Orphanet:591 MONDO:equivalentTo Furuncular myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis -MONDO:0018942 macrophagic myofasciitis Orphanet:592 MONDO:equivalentTo Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrophagic myofasciitis -MONDO:0018943 myofibrillar myopathy Orphanet:593 MONDO:equivalentTo Myofibrillar myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myofibrillar myopathy -MONDO:0018944 gestational trophoblastic neoplasm Orphanet:59305 MONDO:equivalentTo Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational trophoblastic neoplasm -MONDO:0018945 McLeod neuroacanthocytosis syndrome Orphanet:59306 MONDO:equivalentTo McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mcleod neuroacanthocytosis syndrome -MONDO:0018946 rhombencephalosynapsis Orphanet:59315 MONDO:equivalentTo Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhombencephalosynapsis -MONDO:0018947 centronuclear myopathy Orphanet:595 MONDO:equivalentTo Centronuclear myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centronuclear myopathy -MONDO:0018948 multiminicore myopathy Orphanet:598 MONDO:equivalentTo Multiminicore myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiminicore myopathy -MONDO:0018949 distal myopathy Orphanet:599 MONDO:equivalentTo Distal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal myopathy -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency Orphanet:6 MONDO:equivalentTo 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylcrotonyl-coa carboxylase deficiency -MONDO:0018952 argyria Orphanet:60014 MONDO:equivalentTo Argyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label argyria -MONDO:0018954 Loeys-Dietz syndrome Orphanet:60030 MONDO:equivalentTo Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeys-dietz syndrome -MONDO:0018955 recurrent respiratory papillomatosis Orphanet:60032 MONDO:equivalentTo Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent respiratory papillomatosis -MONDO:0018956 idiopathic bronchiectasis Orphanet:60033 MONDO:equivalentTo Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic bronchiectasis -MONDO:0018957 pudendal neuralgia Orphanet:60039 MONDO:equivalentTo Pudendal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pudendal neuralgia -MONDO:0018958 nemaline myopathy Orphanet:607 MONDO:equivalentTo Nemaline myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nemaline myopathy -MONDO:0018959 potassium-aggravated myotonia Orphanet:612 MONDO:equivalentTo Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label potassium-aggravated myotonia -MONDO:0018960 congenital primary megaureter Orphanet:617 MONDO:equivalentTo Congenital primary megaureter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter -MONDO:0018961 familial melanoma Orphanet:618 MONDO:equivalentTo Familial melanoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial melanoma -MONDO:0018963 hereditary methemoglobinemia Orphanet:621 MONDO:equivalentTo Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary methemoglobinemia -MONDO:0018964 homocystinuria without methylmalonic aciduria Orphanet:622 MONDO:equivalentTo Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label homocystinuria without methylmalonic aciduria -MONDO:0018965 Alport syndrome Orphanet:63 MONDO:equivalentTo Alport syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alport syndrome -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Orphanet:632 MONDO:equivalentTo Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short stature due to isolated growth hormone deficiency with x-linked hypogammaglobulinemia -MONDO:0018968 iniencephaly Orphanet:63259 MONDO:equivalentTo Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly -MONDO:0018969 craniorachischisis Orphanet:63260 MONDO:equivalentTo Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis -MONDO:0018974 paraneoplastic pemphigus Orphanet:63455 MONDO:equivalentTo Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic pemphigus -MONDO:0018975 neurofibromatosis type 1 Orphanet:636 MONDO:equivalentTo Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis type 1 -MONDO:0018976 schisis association Orphanet:63862 MONDO:equivalentTo Schisis association semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schisis association -MONDO:0018978 IgG4-related mediastinitis Orphanet:63999 MONDO:equivalentTo IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related mediastinitis -MONDO:0018979 multifocal motor neuropathy Orphanet:641 MONDO:equivalentTo Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal motor neuropathy -MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type Orphanet:64542 MONDO:equivalentTo Acrofacial dysostosis, Kennedy-Teebi type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrofacial dysostosis, kennedy-teebi type -MONDO:0018981 benign idiopathic neonatal seizures Orphanet:64545 MONDO:equivalentTo Benign idiopathic neonatal seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign idiopathic neonatal seizures -MONDO:0018982 Niemann-Pick disease type C Orphanet:646 MONDO:equivalentTo Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease type c -MONDO:0018983 Tolosa-Hunt syndrome Orphanet:64686 MONDO:equivalentTo Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tolosa-hunt syndrome -MONDO:0018984 Oroya fever Orphanet:64692 MONDO:equivalentTo Oroya fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oroya fever -MONDO:0018987 granulomatous mastitis Orphanet:64722 MONDO:equivalentTo Granulomatous mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous mastitis -MONDO:0018988 iridocorneal endothelial syndrome Orphanet:64734 MONDO:equivalentTo Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocorneal endothelial syndrome -MONDO:0018991 hepatoportal sclerosis Orphanet:64743 MONDO:equivalentTo Hepatoportal sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoportal sclerosis -MONDO:0018992 IgG4-related thyroid disease Orphanet:64744 MONDO:equivalentTo IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related thyroid disease -MONDO:0018995 Charcot-Marie-Tooth disease type 4 Orphanet:64749 MONDO:equivalentTo Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 4 -MONDO:0018997 Noonan syndrome Orphanet:648 MONDO:equivalentTo Noonan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome -MONDO:0018998 Leber congenital amaurosis Orphanet:65 MONDO:equivalentTo Leber congenital amaurosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber congenital amaurosis -MONDO:0018999 LCAT deficiency Orphanet:650 MONDO:equivalentTo LCAT deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lcat deficiency -MONDO:0019000 perineural cyst Orphanet:65250 MONDO:equivalentTo Perineural cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst -MONDO:0019002 Lhermitte-Duclos disease Orphanet:65285 MONDO:equivalentTo Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lhermitte-duclos disease -MONDO:0019003 multiple endocrine neoplasia type 2 Orphanet:653 MONDO:equivalentTo Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple endocrine neoplasia type 2 -MONDO:0019005 nephronophthisis Orphanet:655 MONDO:equivalentTo Nephronophthisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephronophthisis -MONDO:0019007 vaginal atresia Orphanet:65681 MONDO:equivalentTo Vaginal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginal atresia -MONDO:0019008 benign recurrent intrahepatic cholestasis Orphanet:65682 MONDO:equivalentTo Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis -MONDO:0019009 isolated focal cortical dysplasia Orphanet:65683 MONDO:equivalentTo Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated focal cortical dysplasia -MONDO:0019010 congenital isolated hyperinsulinism Orphanet:657 MONDO:equivalentTo Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated hyperinsulinism -MONDO:0019011 Charcot-Marie-Tooth disease type 1 Orphanet:65753 MONDO:equivalentTo Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 1 -MONDO:0019012 Carpenter syndrome Orphanet:65759 MONDO:equivalentTo Carpenter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpenter syndrome -MONDO:0019013 non-histaminic angioedema Orphanet:658 MONDO:equivalentTo Non-histaminic angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-histaminic angioedema -MONDO:0019015 omphalocele Orphanet:660 MONDO:equivalentTo Omphalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele -MONDO:0019017 short fifth metacarpals-insulin resistance syndrome Orphanet:66518 MONDO:equivalentTo Short fifth metacarpals-insulin resistance syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short fifth metacarpals-insulin resistance syndrome -MONDO:0019018 Tako-tsubo cardiomyopathy Orphanet:66529 MONDO:equivalentTo Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tako-tsubo cardiomyopathy -MONDO:0019019 osteogenesis imperfecta Orphanet:666 MONDO:equivalentTo Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta -MONDO:0019020 PANDAS Orphanet:66624 MONDO:equivalentTo PANDAS semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pandas -MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome Orphanet:66633 MONDO:equivalentTo Sensorineural hearing loss-early graying-essential tremor syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sensorineural hearing loss-early graying-essential tremor syndrome -MONDO:0019023 cutaneous mastocytosis Orphanet:66646 MONDO:equivalentTo Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytosis -MONDO:0019024 mast cell sarcoma Orphanet:66661 MONDO:equivalentTo Mast cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell sarcoma -MONDO:0019025 extracutaneous mastocytoma Orphanet:66662 MONDO:equivalentTo Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extracutaneous mastocytoma -MONDO:0019028 amoebiasis due to Entamoeba histolytica Orphanet:67 MONDO:equivalentTo Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amoebiasis due to entamoeba histolytica -MONDO:0019029 segmental odontomaxillary dysplasia Orphanet:67039 MONDO:equivalentTo Segmental odontomaxillary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental odontomaxillary dysplasia -MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia Orphanet:67044 MONDO:equivalentTo Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombocytopenia with congenital dyserythropoietic anemia -MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency Orphanet:67045 MONDO:equivalentTo X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability with isolated growth hormone deficiency -MONDO:0019033 primary cutis verticis gyrata Orphanet:671 MONDO:equivalentTo Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutis verticis gyrata -MONDO:0019034 accessory pancreas Orphanet:674 MONDO:equivalentTo Accessory pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label accessory pancreas -MONDO:0019035 pancreatoblastoma Orphanet:677 MONDO:equivalentTo Pancreatoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatoblastoma -MONDO:0019036 amoebiasis due to free-living amoebae Orphanet:68 MONDO:equivalentTo Amoebiasis due to free-living amoebae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amoebiasis due to free-living amoebae -MONDO:0019037 progressive supranuclear palsy Orphanet:683 MONDO:equivalentTo Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive supranuclear palsy -MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome Orphanet:68341 MONDO:equivalentTo Multiple congenital anomalies/dysmorphic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies/dysmorphic syndrome -MONDO:0019046 leukodystrophy Orphanet:68356 MONDO:equivalentTo Leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukodystrophy -MONDO:0019053 peroxisomal disease Orphanet:68373 MONDO:equivalentTo Peroxisomal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisomal disease -MONDO:0019054 congenital limb malformation Orphanet:68378 MONDO:equivalentTo Congenital limb malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital limb malformation -MONDO:0019056 neuromuscular disease Orphanet:68381 MONDO:equivalentTo Neuromuscular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromuscular disease -MONDO:0019064 hereditary spastic paraplegia Orphanet:685 MONDO:equivalentTo Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia -MONDO:0019065 amyloidosis Orphanet:69 MONDO:equivalentTo Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis -MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome Orphanet:69061 MONDO:equivalentTo Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-sensitive nephrotic syndrome -MONDO:0019071 pure hair and nail ectodermal dysplasia Orphanet:69084 MONDO:equivalentTo Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pure hair and nail ectodermal dysplasia -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Orphanet:69735 MONDO:equivalentTo Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome -MONDO:0019074 bilateral acute depigmentation of the iris Orphanet:69736 MONDO:equivalentTo Bilateral acute depigmentation of the iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral acute depigmentation of the iris -MONDO:0019075 Bosley-Salih-Alorainy syndrome Orphanet:69737 MONDO:equivalentTo Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bosley-salih-alorainy syndrome -MONDO:0019076 circumscribed palmoplantar hypokeratosis Orphanet:69744 MONDO:equivalentTo Circumscribed palmoplantar hypokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label circumscribed palmoplantar hypokeratosis -MONDO:0019077 warty dyskeratoma Orphanet:69745 MONDO:equivalentTo Warty dyskeratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warty dyskeratoma -MONDO:0019079 proximal spinal muscular atrophy Orphanet:70 MONDO:equivalentTo Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal spinal muscular atrophy -MONDO:0019080 alopecia totalis Orphanet:700 MONDO:equivalentTo Alopecia totalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia totalis -MONDO:0019082 bullous pemphigoid Orphanet:703 MONDO:equivalentTo Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid -MONDO:0019084 radiation proctitis Orphanet:70475 MONDO:equivalentTo Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis -MONDO:0019085 vernal keratoconjunctivitis Orphanet:70476 MONDO:equivalentTo Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vernal keratoconjunctivitis -MONDO:0019086 carcinoma of esophagus Orphanet:70482 MONDO:equivalentTo Carcinoma of esophagus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoma of esophagus -MONDO:0019087 cholangiocarcinoma Orphanet:70567 MONDO:equivalentTo Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangiocarcinoma -MONDO:0019088 post-transplant lymphoproliferative disease Orphanet:70568 MONDO:equivalentTo Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-transplant lymphoproliferative disease -MONDO:0019091 bronchopulmonary dysplasia Orphanet:70589 MONDO:equivalentTo Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia -MONDO:0019092 infantile apnea Orphanet:70590 MONDO:equivalentTo Infantile apnea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile apnea -MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency Orphanet:70593 MONDO:equivalentTo Immunodeficiency due to selective anti-polysaccharide antibody deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency due to selective anti-polysaccharide antibody deficiency -MONDO:0019094 congenital Epstein-Barr virus infection Orphanet:70596 MONDO:equivalentTo Congenital Epstein-Barr virus infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital epstein-barr virus infection -MONDO:0019095 plague Orphanet:707 MONDO:equivalentTo Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague -MONDO:0019098 autoimmune thrombocytopenia Orphanet:71203 MONDO:equivalentTo Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune thrombocytopenia -MONDO:0019101 retinal capillary malformation Orphanet:71213 MONDO:equivalentTo Retinal capillary malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal capillary malformation -MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Orphanet:71267 MONDO:equivalentTo Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome -MONDO:0019104 Sandifer syndrome Orphanet:71272 MONDO:equivalentTo Sandifer syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandifer syndrome -MONDO:0019105 renal nutcracker syndrome Orphanet:71273 MONDO:equivalentTo Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal nutcracker syndrome -MONDO:0019107 Rh deficiency syndrome Orphanet:71275 MONDO:equivalentTo Rh deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rh deficiency syndrome -MONDO:0019108 silent sinus syndrome Orphanet:71276 MONDO:equivalentTo Silent sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silent sinus syndrome -MONDO:0019109 CANOMAD syndrome Orphanet:71279 MONDO:equivalentTo CANOMAD syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label canomad syndrome -MONDO:0019111 familial thrombocytosis Orphanet:71493 MONDO:equivalentTo Familial thrombocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thrombocytosis -MONDO:0019112 cancer-associated retinopathy Orphanet:71505 MONDO:equivalentTo Cancer-associated retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cancer-associated retinopathy -MONDO:0019113 benign paroxysmal torticollis of infancy Orphanet:71518 MONDO:equivalentTo Benign paroxysmal torticollis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign paroxysmal torticollis of infancy -MONDO:0019114 psychogenic movement disorders Orphanet:71519 MONDO:equivalentTo Psychogenic movement disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psychogenic movement disorders -MONDO:0019115 obesity due to melanocortin 4 receptor deficiency Orphanet:71529 MONDO:equivalentTo Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity due to melanocortin 4 receptor deficiency -MONDO:0019119 muscular channelopathy Orphanet:71864 MONDO:equivalentTo Muscular channelopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular channelopathy -MONDO:0019120 pili bifurcati Orphanet:720 MONDO:equivalentTo Pili bifurcati semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili bifurcati -MONDO:0019121 pneumocystosis Orphanet:723 MONDO:equivalentTo Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis -MONDO:0019122 idiopathic acute eosinophilic pneumonia Orphanet:724 MONDO:equivalentTo Idiopathic acute eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic acute eosinophilic pneumonia -MONDO:0019123 continuous spikes and waves during sleep Orphanet:725 MONDO:equivalentTo Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label continuous spikes and waves during sleep -MONDO:0019124 microscopic polyangiitis Orphanet:727 MONDO:equivalentTo Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis -MONDO:0019125 relapsing polychondritis Orphanet:728 MONDO:equivalentTo Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis -MONDO:0019127 polymyositis Orphanet:732 MONDO:equivalentTo Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis -MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome Orphanet:73223 MONDO:equivalentTo Global developmental delay-osteopenia-ectodermal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-osteopenia-ectodermal defect syndrome -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome Orphanet:73230 MONDO:equivalentTo Ossification anomalies-psychomotor developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ossification anomalies-psychomotor developmental delay syndrome -MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Orphanet:73245 MONDO:equivalentTo Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal muscular atrophy-dandy-walker malformation-cataracts syndrome -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Orphanet:73246 MONDO:equivalentTo Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome -MONDO:0019134 central neurocytoma Orphanet:73256 MONDO:equivalentTo Central neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central neurocytoma -MONDO:0019136 Zygomycosis Orphanet:73263 MONDO:equivalentTo Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis -MONDO:0019137 non-24-hour sleep-wake syndrome Orphanet:73267 MONDO:equivalentTo Non-24-hour sleep-wake syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-24-hour sleep-wake syndrome -MONDO:0019140 acute ackee fruit intoxication Orphanet:73423 MONDO:equivalentTo Acute ackee fruit intoxication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute ackee fruit intoxication -MONDO:0019141 porokeratosis of Mibelli Orphanet:735 MONDO:equivalentTo Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porokeratosis of mibelli -MONDO:0019143 angiostrongyliasis Orphanet:74 MONDO:equivalentTo Angiostrongyliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiostrongyliasis -MONDO:0019147 myiasis Orphanet:75110 MONDO:equivalentTo Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis -MONDO:0019148 Wolman disease Orphanet:75233 MONDO:equivalentTo Wolman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wolman disease -MONDO:0019149 cholesteryl ester storage disease Orphanet:75234 MONDO:equivalentTo Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteryl ester storage disease -MONDO:0019151 oligocone trichromacy Orphanet:75378 MONDO:equivalentTo Oligocone trichromacy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligocone trichromacy -MONDO:0019152 Oguchi disease Orphanet:75382 MONDO:equivalentTo Oguchi disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oguchi disease -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome Orphanet:75389 MONDO:equivalentTo Brain malformation-congenital heart disease-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain malformation-congenital heart disease-postaxial polydactyly syndrome -MONDO:0019154 androgen insensitivity syndrome Orphanet:754 MONDO:equivalentTo Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label androgen insensitivity syndrome -MONDO:0019155 Leydig cell hypoplasia Orphanet:755 MONDO:equivalentTo Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia -MONDO:0019156 angioosteohypotrophic syndrome Orphanet:75508 MONDO:equivalentTo Angioosteohypotrophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioosteohypotrophic syndrome -MONDO:0019158 tropical endomyocardial fibrosis Orphanet:75565 MONDO:equivalentTo Tropical endomyocardial fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical endomyocardial fibrosis -MONDO:0019159 Loeffler endocarditis Orphanet:75566 MONDO:equivalentTo Loeffler endocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeffler endocarditis -MONDO:0019160 primary progressive freezing gait Orphanet:75567 MONDO:equivalentTo Primary progressive freezing gait semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive freezing gait -MONDO:0019161 pseudohypoaldosteronism type 1 Orphanet:756 MONDO:equivalentTo Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 1 -MONDO:0019162 pseudohypoaldosteronism type 2 Orphanet:757 MONDO:equivalentTo Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoaldosteronism type 2 -MONDO:0019164 6q terminal deletion syndrome Orphanet:75857 MONDO:equivalentTo 6q terminal deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6q terminal deletion syndrome -MONDO:0019167 immunoglobulin A vasculitis Orphanet:761 MONDO:equivalentTo Immunoglobulin A vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunoglobulin a vasculitis -MONDO:0019168 pyomyositis Orphanet:764 MONDO:equivalentTo Pyomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyomyositis -MONDO:0019169 pyruvate dehydrogenase deficiency Orphanet:765 MONDO:equivalentTo Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyruvate dehydrogenase deficiency -MONDO:0019170 polyarteritis nodosa Orphanet:767 MONDO:equivalentTo Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa -MONDO:0019171 familial long QT syndrome Orphanet:768 MONDO:equivalentTo Familial long QT syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial long qt syndrome -MONDO:0019173 rabies Orphanet:770 MONDO:equivalentTo Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies -MONDO:0019175 primary lymphedema Orphanet:77240 MONDO:equivalentTo Primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary lymphedema -MONDO:0019177 odontoleukodystrophy Orphanet:77295 MONDO:equivalentTo Odontoleukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoleukodystrophy -MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome Orphanet:77300 MONDO:equivalentTo Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome -MONDO:0019179 monosomy 9q22.3 Orphanet:77301 MONDO:equivalentTo Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 9q22.3 -MONDO:0019180 hereditary hemorrhagic telangiectasia Orphanet:774 MONDO:equivalentTo Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hemorrhagic telangiectasia -MONDO:0019186 Q fever Orphanet:781 MONDO:equivalentTo Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever -MONDO:0019187 Axenfeld-Rieger syndrome Orphanet:782 MONDO:equivalentTo Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld-rieger syndrome -MONDO:0019188 Rubinstein-Taybi syndrome Orphanet:783 MONDO:equivalentTo Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rubinstein-taybi syndrome -MONDO:0019190 juvenile polyposis of infancy Orphanet:79076 MONDO:equivalentTo Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polyposis of infancy -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis Orphanet:79078 MONDO:equivalentTo IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label igg4-related dacryoadenitis and sialadenitis -MONDO:0019192 AKT2-related familial partial lipodystrophy Orphanet:79085 MONDO:equivalentTo AKT2-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label akt2-related familial partial lipodystrophy -MONDO:0019193 acquired generalized lipodystrophy Orphanet:79086 MONDO:equivalentTo Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired generalized lipodystrophy -MONDO:0019194 localized lipodystrophy Orphanet:79088 MONDO:equivalentTo Localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lipodystrophy -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Orphanet:79091 MONDO:equivalentTo Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome -MONDO:0019196 Foix-Alajouanine syndrome Orphanet:79093 MONDO:equivalentTo Foix-Alajouanine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foix-alajouanine syndrome -MONDO:0019197 folinic acid-responsive seizures Orphanet:79097 MONDO:equivalentTo Folinic acid-responsive seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label folinic acid-responsive seizures -MONDO:0019198 sympathetic ophthalmia Orphanet:79098 MONDO:equivalentTo Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sympathetic ophthalmia -MONDO:0019199 interstitial granulomatous dermatitis with arthritis Orphanet:79099 MONDO:equivalentTo Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial granulomatous dermatitis with arthritis -MONDO:0019200 retinitis pigmentosa Orphanet:791 MONDO:equivalentTo Retinitis pigmentosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa -MONDO:0019201 thyrotoxic periodic paralysis Orphanet:79102 MONDO:equivalentTo Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyrotoxic periodic paralysis -MONDO:0019202 myxofibrosarcoma Orphanet:79105 MONDO:equivalentTo Myxofibrosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxofibrosarcoma -MONDO:0019203 acute interstitial pneumonia Orphanet:79126 MONDO:equivalentTo Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute interstitial pneumonia -MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome Orphanet:79127 MONDO:equivalentTo Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory bronchiolitis-interstitial lung disease syndrome -MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome Orphanet:79129 MONDO:equivalentTo Trichodysplasia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichodysplasia-amelogenesis imperfecta syndrome -MONDO:0019207 DEND syndrome Orphanet:79134 MONDO:equivalentTo DEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dend syndrome -MONDO:0019208 Bickerstaff brainstem encephalitis Orphanet:79138 MONDO:equivalentTo Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bickerstaff brainstem encephalitis -MONDO:0019209 Japanese encephalitis Orphanet:79139 MONDO:equivalentTo Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis -MONDO:0019210 cutaneous neuroendocrine carcinoma Orphanet:79140 MONDO:equivalentTo Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous neuroendocrine carcinoma -MONDO:0019211 isolated congenital anonychia Orphanet:79143 MONDO:equivalentTo Isolated congenital anonychia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital anonychia -MONDO:0019212 disseminated superficial actinic porokeratosis Orphanet:79152 MONDO:equivalentTo Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated superficial actinic porokeratosis -MONDO:0019215 classic organic aciduria Orphanet:79163 MONDO:equivalentTo Classic organic aciduria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic organic aciduria -MONDO:0019226 glucose transport disorder Orphanet:79178 MONDO:equivalentTo Glucose transport disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucose transport disorder -MONDO:0019234 peroxisome biogenesis disorder Orphanet:79189 MONDO:equivalentTo Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder -MONDO:0019240 sterol biosynthesis disorder Orphanet:79195 MONDO:equivalentTo Sterol biosynthesis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterol biosynthesis disorder -MONDO:0019248 mucolipidosis Orphanet:79212 MONDO:equivalentTo Mucolipidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucolipidosis -MONDO:0019249 mucopolysaccharidosis Orphanet:79213 MONDO:equivalentTo Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucopolysaccharidosis -MONDO:0019251 oligosaccharidosis Orphanet:79215 MONDO:equivalentTo Oligosaccharidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligosaccharidosis -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency Orphanet:79219 MONDO:equivalentTo Metabolic disease involving other neurotransmitter deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disease involving other neurotransmitter deficiency -MONDO:0019255 sphingolipidosis Orphanet:79225 MONDO:equivalentTo Sphingolipidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sphingolipidosis -MONDO:0019256 sterol metabolism disorder Orphanet:79226 MONDO:equivalentTo Sterol metabolism disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sterol metabolism disorder -MONDO:0019258 mild phenylketonuria Orphanet:79253 MONDO:equivalentTo Mild phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild phenylketonuria -MONDO:0019259 classic phenylketonuria Orphanet:79254 MONDO:equivalentTo Classic phenylketonuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic phenylketonuria -MONDO:0019260 adult neuronal ceroid lipofuscinosis Orphanet:79262 MONDO:equivalentTo Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult neuronal ceroid lipofuscinosis -MONDO:0019261 infantile neuronal ceroid lipofuscinosis Orphanet:79263 MONDO:equivalentTo Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile neuronal ceroid lipofuscinosis -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis Orphanet:79264 MONDO:equivalentTo Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile neuronal ceroid lipofuscinosis -MONDO:0019263 autosomal erythropoietic protoporphyria Orphanet:79278 MONDO:equivalentTo Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal erythropoietic protoporphyria -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 Orphanet:79281 MONDO:equivalentTo Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha-n-acetylgalactosaminidase deficiency type 3 -MONDO:0019265 diazoxide-resistant focal hyperinsulinism Orphanet:79298 MONDO:equivalentTo Diazoxide-resistant focal hyperinsulinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diazoxide-resistant focal hyperinsulinism -MONDO:0019266 SAPHO syndrome Orphanet:793 MONDO:equivalentTo SAPHO syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sapho syndrome -MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- Orphanet:79312 MONDO:equivalentTo Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12-unresponsive methylmalonic acidemia type mut- -MONDO:0019268 epidermal disease Orphanet:79353 MONDO:equivalentTo Epidermal disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermal disease -MONDO:0019269 ichthyosis Orphanet:79354 MONDO:equivalentTo Ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis -MONDO:0019270 erythrokeratoderma Orphanet:79355 MONDO:equivalentTo Erythrokeratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrokeratoderma -MONDO:0019272 hereditary palmoplantar keratoderma Orphanet:79357 MONDO:equivalentTo Hereditary palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary palmoplantar keratoderma -MONDO:0019276 inherited epidermolysis bullosa Orphanet:79361 MONDO:equivalentTo Inherited epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited epidermolysis bullosa -MONDO:0019278 hair anomaly Orphanet:79363 MONDO:equivalentTo Hair anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hair anomaly -MONDO:0019283 nail anomaly Orphanet:79368 MONDO:equivalentTo Nail anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nail anomaly -MONDO:0019287 ectodermal dysplasia syndrome Orphanet:79373 MONDO:equivalentTo Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectodermal dysplasia syndrome -MONDO:0019289 hyperpigmentation of the skin Orphanet:79375 MONDO:equivalentTo Hyperpigmentation of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperpigmentation of the skin -MONDO:0019290 hypopigmentation of the skin Orphanet:79376 MONDO:equivalentTo Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopigmentation of the skin -MONDO:0019293 skin vascular disease Orphanet:79379 MONDO:equivalentTo Skin vascular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skin vascular disease -MONDO:0019294 mixed dermis disorder Orphanet:79380 MONDO:equivalentTo Mixed dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed dermis disorder -MONDO:0019308 junctional epidermolysis bullosa inversa Orphanet:79405 MONDO:equivalentTo Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label junctional epidermolysis bullosa inversa -MONDO:0019309 late-onset junctional epidermolysis bullosa Orphanet:79406 MONDO:equivalentTo Late-onset junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset junctional epidermolysis bullosa -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa Orphanet:79409 MONDO:equivalentTo Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive dystrophic epidermolysis bullosa inversa -MONDO:0019312 Hermansky-Pudlak syndrome Orphanet:79430 MONDO:equivalentTo Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hermansky-pudlak syndrome -MONDO:0019314 cutaneous mastocytoma Orphanet:79455 MONDO:equivalentTo Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous mastocytoma -MONDO:0019315 diffuse cutaneous mastocytosis Orphanet:79456 MONDO:equivalentTo Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse cutaneous mastocytosis -MONDO:0019316 maculopapular cutaneous mastocytosis Orphanet:79457 MONDO:equivalentTo Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maculopapular cutaneous mastocytosis -MONDO:0019318 inflammatory linear verrucous epidermal nevus Orphanet:79466 MONDO:equivalentTo Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory linear verrucous epidermal nevus -MONDO:0019319 verrucous nevus Orphanet:79467 MONDO:equivalentTo Verrucous nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label verrucous nevus -MONDO:0019320 acanthokeratolytic verrucous nevus Orphanet:79468 MONDO:equivalentTo Acanthokeratolytic verrucous nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthokeratolytic verrucous nevus -MONDO:0019321 atypical Werner syndrome Orphanet:79474 MONDO:equivalentTo Atypical Werner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical werner syndrome -MONDO:0019322 pemphigus vegetans Orphanet:79479 MONDO:equivalentTo Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans -MONDO:0019323 pemphigus erythematosus Orphanet:79480 MONDO:equivalentTo Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus -MONDO:0019324 pemphigus foliaceus Orphanet:79481 MONDO:equivalentTo Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus -MONDO:0019325 phakomatosis cesioflammea Orphanet:79483 MONDO:equivalentTo Phakomatosis cesioflammea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis cesioflammea -MONDO:0019326 phakomatosis cesiomarmorata Orphanet:79484 MONDO:equivalentTo Phakomatosis cesiomarmorata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis cesiomarmorata -MONDO:0019327 phakomatosis spilorosea Orphanet:79485 MONDO:equivalentTo Phakomatosis spilorosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phakomatosis spilorosea -MONDO:0019328 macrocystic lymphatic malformation Orphanet:79489 MONDO:equivalentTo Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrocystic lymphatic malformation -MONDO:0019329 microcystic lymphatic malformation Orphanet:79490 MONDO:equivalentTo Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcystic lymphatic malformation -MONDO:0019330 pili gemini Orphanet:79492 MONDO:equivalentTo Pili gemini semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pili gemini -MONDO:0019332 punctate palmoplantar keratoderma type 1 Orphanet:79501 MONDO:equivalentTo Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate palmoplantar keratoderma type 1 -MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency Orphanet:79643 MONDO:equivalentTo Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyperinsulinism due to sur1 deficiency -MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency Orphanet:79644 MONDO:equivalentTo Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyperinsulinism due to kir6.2 deficiency -MONDO:0019335 mild hyperphenylalaninemia Orphanet:79651 MONDO:equivalentTo Mild hyperphenylalaninemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mild hyperphenylalaninemia -MONDO:0019336 Gardner syndrome Orphanet:79665 MONDO:equivalentTo Gardner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gardner syndrome -MONDO:0019337 autoimmune bullous skin disease Orphanet:79669 MONDO:equivalentTo Autoimmune bullous skin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune bullous skin disease -MONDO:0019338 sarcoidosis Orphanet:797 MONDO:equivalentTo Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis -MONDO:0019339 47,XYY syndrome Orphanet:8 MONDO:equivalentTo 47,XYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 47,xyy syndrome -MONDO:0019340 scleroderma Orphanet:801 MONDO:equivalentTo Scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleroderma -MONDO:0019342 Seckel syndrome Orphanet:808 MONDO:equivalentTo Seckel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seckel syndrome -MONDO:0019344 antisynthetase syndrome Orphanet:81 MONDO:equivalentTo Antisynthetase syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antisynthetase syndrome -MONDO:0019345 shigellosis Orphanet:810 MONDO:equivalentTo Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis -MONDO:0019346 sialidosis type 1 Orphanet:812 MONDO:equivalentTo Sialidosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialidosis type 1 -MONDO:0019347 peeling skin syndrome Orphanet:817 MONDO:equivalentTo Peeling skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peeling skin syndrome -MONDO:0019349 Sotos syndrome Orphanet:821 MONDO:equivalentTo Sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome -MONDO:0019350 hereditary spherocytosis Orphanet:822 MONDO:equivalentTo Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis -MONDO:0019353 Stargardt disease Orphanet:827 MONDO:equivalentTo Stargardt disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stargardt disease -MONDO:0019354 Stickler syndrome Orphanet:828 MONDO:equivalentTo Stickler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome -MONDO:0019355 adult-onset Still disease Orphanet:829 MONDO:equivalentTo Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease -MONDO:0019356 urogenital tract malformation Orphanet:83001 MONDO:equivalentTo Urogenital tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urogenital tract malformation -MONDO:0019358 encephalopathy due to sulfite oxidase deficiency Orphanet:833 MONDO:equivalentTo Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy due to sulfite oxidase deficiency -MONDO:0019359 Rocky mountain spotted fever Orphanet:83311 MONDO:equivalentTo Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rocky mountain spotted fever -MONDO:0019360 rickettsialpox Orphanet:83312 MONDO:equivalentTo Rickettsialpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rickettsialpox -MONDO:0019364 pseudotyphus of California Orphanet:83316 MONDO:equivalentTo Pseudotyphus of California semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudotyphus of california -MONDO:0019365 scrub typhus Orphanet:83317 MONDO:equivalentTo Scrub typhus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scrub typhus -MONDO:0019366 free sialic acid storage disease Orphanet:834 MONDO:equivalentTo Free sialic acid storage disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label free sialic acid storage disease -MONDO:0019367 regional odontodysplasia Orphanet:83450 MONDO:equivalentTo Regional odontodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label regional odontodysplasia -MONDO:0019368 florid cemento-osseous dysplasia Orphanet:83451 MONDO:equivalentTo Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label florid cemento-osseous dysplasia -MONDO:0019369 complex regional pain syndrome Orphanet:83452 MONDO:equivalentTo Complex regional pain syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome -MONDO:0019370 vulvovaginal gingival syndrome Orphanet:83453 MONDO:equivalentTo Vulvovaginal gingival syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvovaginal gingival syndrome -MONDO:0019372 solitary bone cyst Orphanet:83468 MONDO:equivalentTo Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst -MONDO:0019373 desmoplastic small round cell tumor Orphanet:83469 MONDO:equivalentTo Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmoplastic small round cell tumor -MONDO:0019374 CAMOS syndrome Orphanet:83472 MONDO:equivalentTo CAMOS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label camos syndrome -MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Orphanet:83473 MONDO:equivalentTo Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -MONDO:0019376 West-Nile encephalitis Orphanet:83476 MONDO:equivalentTo West-Nile encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label west-nile encephalitis -MONDO:0019377 Mycoplasma encephalitis Orphanet:83482 MONDO:equivalentTo Mycoplasma encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycoplasma encephalitis -MONDO:0019378 la Crosse encephalitis Orphanet:83483 MONDO:equivalentTo La Crosse encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label la crosse encephalitis -MONDO:0019380 western equine encephalitis Orphanet:83593 MONDO:equivalentTo Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis -MONDO:0019383 acute disseminated encephalomyelitis Orphanet:83597 MONDO:equivalentTo Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis -MONDO:0019384 encephalitis lethargica Orphanet:83600 MONDO:equivalentTo Encephalitis lethargica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalitis lethargica -MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis Orphanet:83601 MONDO:equivalentTo Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label steroid-responsive encephalopathy associated with autoimmune thyroiditis -MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome Orphanet:83619 MONDO:equivalentTo Macrostomia-preauricular tags-external ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macrostomia-preauricular tags-external ophthalmoplegia syndrome -MONDO:0019390 Susac syndrome Orphanet:838 MONDO:equivalentTo Susac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label susac syndrome -MONDO:0019391 Fanconi anemia Orphanet:84 MONDO:equivalentTo Fanconi anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fanconi anemia -MONDO:0019392 syringocystadenoma papilliferum Orphanet:840 MONDO:equivalentTo Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syringocystadenoma papilliferum -MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects Orphanet:84065 MONDO:equivalentTo Idiopathic malabsorption due to bile acid synthesis defects semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic malabsorption due to bile acid synthesis defects -MONDO:0019394 Senior-Boichis syndrome Orphanet:84081 MONDO:equivalentTo Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senior-boichis syndrome -MONDO:0019395 Hinman syndrome Orphanet:84085 MONDO:equivalentTo Hinman syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hinman syndrome -MONDO:0019396 collagen type III glomerulopathy Orphanet:84087 MONDO:equivalentTo Collagen type III glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label collagen type iii glomerulopathy -MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions Orphanet:84132 MONDO:equivalentTo Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desmin-related myopathy with mallory body-like inclusions -MONDO:0019403 congenital dyserythropoietic anemia Orphanet:85 MONDO:equivalentTo Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital dyserythropoietic anemia -MONDO:0019404 perineurioma Orphanet:85102 MONDO:equivalentTo Perineurioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineurioma -MONDO:0019405 facial onset sensory and motor neuronopathy Orphanet:85162 MONDO:equivalentTo Facial onset sensory and motor neuronopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial onset sensory and motor neuronopathy -MONDO:0019406 craniofacial conodysplasia Orphanet:85168 MONDO:equivalentTo Craniofacial conodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniofacial conodysplasia -MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type Orphanet:85172 MONDO:equivalentTo Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephalic osteodysplastic dysplasia, saul-wilson type -MONDO:0019408 Astley-Kendall dysplasia Orphanet:85175 MONDO:equivalentTo Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astley-kendall dysplasia -MONDO:0019409 idiopathic juvenile osteoporosis Orphanet:85193 MONDO:equivalentTo Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic juvenile osteoporosis -MONDO:0019411 genochondromatosis type 1 Orphanet:85197 MONDO:equivalentTo Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genochondromatosis type 1 -MONDO:0019412 dysspondyloenchondromatosis Orphanet:85198 MONDO:equivalentTo Dysspondyloenchondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysspondyloenchondromatosis -MONDO:0019414 BRESEK syndrome Orphanet:85284 MONDO:equivalentTo BRESEK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bresek syndrome -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia Orphanet:853 MONDO:equivalentTo Fetal and neonatal alloimmune thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal and neonatal alloimmune thrombocytopenia -MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome Orphanet:85317 MONDO:equivalentTo X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome -MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome Orphanet:85319 MONDO:equivalentTo X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome -MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome Orphanet:85320 MONDO:equivalentTo X-linked intellectual disability-macrocephaly-macroorchidism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-macrocephaly-macroorchidism syndrome -MONDO:0019420 X-linked intellectual disability, Pai type Orphanet:85322 MONDO:equivalentTo X-linked intellectual disability, Pai type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, pai type -MONDO:0019421 X-linked intellectual disability, Seemanova type Orphanet:85323 MONDO:equivalentTo X-linked intellectual disability, Seemanova type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, seemanova type -MONDO:0019422 X-linked intellectual disability, Stevenson type Orphanet:85325 MONDO:equivalentTo X-linked intellectual disability, Stevenson type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stevenson type -MONDO:0019423 X-linked intellectual disability, Stoll type Orphanet:85326 MONDO:equivalentTo X-linked intellectual disability, Stoll type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, stoll type -MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome Orphanet:85327 MONDO:equivalentTo X-linked intellectual disability-acromegaly-hyperactivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-acromegaly-hyperactivity syndrome -MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type Orphanet:85334 MONDO:equivalentTo X-linked neurodegenerative syndrome, Bertini type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked neurodegenerative syndrome, bertini type -MONDO:0019428 fried syndrome Orphanet:85335 MONDO:equivalentTo Fried syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fried syndrome -MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type Orphanet:85336 MONDO:equivalentTo X-linked neurodegenerative syndrome, Hamel type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked neurodegenerative syndrome, hamel type -MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome Orphanet:85338 MONDO:equivalentTo X-linked intellectual disability-ataxia-apraxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability-ataxia-apraxia syndrome -MONDO:0019431 primitive portal vein thrombosis Orphanet:854 MONDO:equivalentTo Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primitive portal vein thrombosis -MONDO:0019433 oligoarticular juvenile idiopathic arthritis Orphanet:85410 MONDO:equivalentTo Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligoarticular juvenile idiopathic arthritis -MONDO:0019434 systemic-onset juvenile idiopathic arthritis Orphanet:85414 MONDO:equivalentTo Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic-onset juvenile idiopathic arthritis -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Orphanet:85435 MONDO:equivalentTo Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid factor-positive polyarticular juvenile idiopathic arthritis -MONDO:0019436 psoriasis-related juvenile idiopathic arthritis Orphanet:85436 MONDO:equivalentTo Psoriasis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis-related juvenile idiopathic arthritis -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis Orphanet:85438 MONDO:equivalentTo Enthesitis-related juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enthesitis-related juvenile idiopathic arthritis -MONDO:0019438 AL amyloidosis Orphanet:85443 MONDO:equivalentTo AL amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label al amyloidosis -MONDO:0019439 AA amyloidosis Orphanet:85445 MONDO:equivalentTo AA amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aa amyloidosis -MONDO:0019440 wild type ABeta2M amyloidosis Orphanet:85446 MONDO:equivalentTo Wild type ABeta2M amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wild type abeta2m amyloidosis -MONDO:0019441 ATTRV122I amyloidosis Orphanet:85451 MONDO:equivalentTo ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attrv122i amyloidosis -MONDO:0019444 trichinellosis Orphanet:863 MONDO:equivalentTo Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis -MONDO:0019445 trichofolliculoma Orphanet:864 MONDO:equivalentTo Trichofolliculoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichofolliculoma -MONDO:0019446 localized lichen myxedematosus Orphanet:86795 MONDO:equivalentTo Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus -MONDO:0019447 atypical lichen myxedematosus Orphanet:86797 MONDO:equivalentTo Atypical lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical lichen myxedematosus -MONDO:0019448 benign adult familial myoclonic epilepsy Orphanet:86814 MONDO:equivalentTo Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign adult familial myoclonic epilepsy -MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome Orphanet:86821 MONDO:equivalentTo Lissencephaly type 3-familial fetal akinesia sequence syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly type 3-familial fetal akinesia sequence syndrome -MONDO:0019450 lissencephaly with cerebellar hypoplasia Orphanet:86823 MONDO:equivalentTo Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lissencephaly with cerebellar hypoplasia -MONDO:0019451 chronic neutrophilic leukemia Orphanet:86829 MONDO:equivalentTo Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neutrophilic leukemia -MONDO:0019455 acute panmyelosis with myelofibrosis Orphanet:86843 MONDO:equivalentTo Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis -MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome Orphanet:86846 MONDO:equivalentTo Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label therapy related acute myeloid leukemia and myelodysplastic syndrome -MONDO:0019458 acute basophilic leukemia Orphanet:86849 MONDO:equivalentTo Acute basophilic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute basophilic leukemia -MONDO:0019460 acute leukemia of ambiguous lineage Orphanet:86851 MONDO:equivalentTo Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute leukemia of ambiguous lineage -MONDO:0019461 B-cell prolymphocytic leukemia Orphanet:86852 MONDO:equivalentTo B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell prolymphocytic leukemia -MONDO:0019462 splenic marginal zone lymphoma Orphanet:86854 MONDO:equivalentTo Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label splenic marginal zone lymphoma -MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease Orphanet:86861 MONDO:equivalentTo Non-amyloid monoclonal immunoglobulin deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-amyloid monoclonal immunoglobulin deposition disease -MONDO:0019464 heavy chain disease Orphanet:86864 MONDO:equivalentTo Heavy chain disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heavy chain disease -MONDO:0019465 nodal marginal zone B-cell lymphoma Orphanet:86867 MONDO:equivalentTo Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodal marginal zone b-cell lymphoma -MONDO:0019466 lymphomatoid granulomatosis Orphanet:86869 MONDO:equivalentTo Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis -MONDO:0019468 T-cell prolymphocytic leukemia Orphanet:86871 MONDO:equivalentTo T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell prolymphocytic leukemia -MONDO:0019469 T-cell large granular lymphocyte leukemia Orphanet:86872 MONDO:equivalentTo T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell large granular lymphocyte leukemia -MONDO:0019470 aggressive NK-cell leukemia Orphanet:86873 MONDO:equivalentTo Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive nk-cell leukemia -MONDO:0019471 adult T-cell leukemia/lymphoma Orphanet:86875 MONDO:equivalentTo Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult t-cell leukemia/lymphoma -MONDO:0019472 extranodal nasal NK/T cell lymphoma Orphanet:86879 MONDO:equivalentTo Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extranodal nasal nk/t cell lymphoma -MONDO:0019473 enteropathy-associated T-cell lymphoma Orphanet:86880 MONDO:equivalentTo Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enteropathy-associated t-cell lymphoma -MONDO:0019474 hepatosplenic T-cell lymphoma Orphanet:86882 MONDO:equivalentTo Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma Orphanet:86884 MONDO:equivalentTo Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified Orphanet:86885 MONDO:equivalentTo Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous peripheral t-cell lymphoma not otherwise specified -MONDO:0019479 histiocytic sarcoma Orphanet:86896 MONDO:equivalentTo Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma -MONDO:0019480 Langerhans cell sarcoma Orphanet:86897 MONDO:equivalentTo Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label langerhans cell sarcoma -MONDO:0019482 dendritic cell sarcoma not otherwise specified Orphanet:86903 MONDO:equivalentTo Dendritic cell sarcoma not otherwise specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell sarcoma not otherwise specified -MONDO:0019483 methotrexate-associated lymphoproliferative disorders Orphanet:86904 MONDO:equivalentTo Methotrexate-associated lymphoproliferative disorders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate-associated lymphoproliferative disorders -MONDO:0019484 hypothalamic hamartomas with gelastic seizures Orphanet:86906 MONDO:equivalentTo Hypothalamic hamartomas with gelastic seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypothalamic hamartomas with gelastic seizures -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome Orphanet:86908 MONDO:equivalentTo Idiopathic hemiconvulsion-hemiplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic hemiconvulsion-hemiplegia syndrome -MONDO:0019487 epilepsy with myoclonic absences Orphanet:86911 MONDO:equivalentTo Epilepsy with myoclonic absences semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epilepsy with myoclonic absences -MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies Orphanet:86913 MONDO:equivalentTo Myoclonic epilepsy in non-progressive encephalopathies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic epilepsy in non-progressive encephalopathies -MONDO:0019493 primary adult heart tumor Orphanet:874 MONDO:equivalentTo Primary adult heart tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary adult heart tumor -MONDO:0019494 primary pediatric heart tumor Orphanet:875 MONDO:equivalentTo Primary pediatric heart tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pediatric heart tumor -MONDO:0019496 neuroendocrine neoplasm Orphanet:877 MONDO:equivalentTo Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroendocrine neoplasm -MONDO:0019498 tungiasis Orphanet:879 MONDO:equivalentTo Tungiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tungiasis -MONDO:0019499 Turner syndrome Orphanet:881 MONDO:equivalentTo Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome -MONDO:0019500 extragonadal teratoma Orphanet:883 MONDO:equivalentTo Extragonadal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal teratoma -MONDO:0019501 Usher syndrome Orphanet:886 MONDO:equivalentTo Usher syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label usher syndrome -MONDO:0019502 autosomal recessive non-syndromic intellectual disability Orphanet:88616 MONDO:equivalentTo Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive non-syndromic intellectual disability -MONDO:0019504 superior limbic keratoconjunctivitis Orphanet:88633 MONDO:equivalentTo Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superior limbic keratoconjunctivitis -MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Orphanet:88643 MONDO:equivalentTo Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome -MONDO:0019507 amelogenesis imperfecta Orphanet:88661 MONDO:equivalentTo Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amelogenesis imperfecta -MONDO:0019508 van der Woude syndrome Orphanet:888 MONDO:equivalentTo Van der Woude syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label van der woude syndrome -MONDO:0019514 hepatic veno-occlusive disease Orphanet:890 MONDO:equivalentTo Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease -MONDO:0019517 Waardenburg syndrome type 2 Orphanet:895 MONDO:equivalentTo Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg syndrome type 2 -MONDO:0019518 Waardenburg-Shah syndrome Orphanet:897 MONDO:equivalentTo Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waardenburg-shah syndrome -MONDO:0019524 Bartter syndrome type 4 Orphanet:89938 MONDO:equivalentTo Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartter syndrome type 4 -MONDO:0019525 tetrasomy X Orphanet:9 MONDO:equivalentTo Tetrasomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy x -MONDO:0019526 erythema elevatum diutinum Orphanet:90000 MONDO:equivalentTo Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum -MONDO:0019527 undifferentiated connective tissue syndrome Orphanet:90002 MONDO:equivalentTo Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label undifferentiated connective tissue syndrome -MONDO:0019528 inflammatory pseudotumor of the liver Orphanet:90003 MONDO:equivalentTo Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory pseudotumor of the liver -MONDO:0019529 radiation myelitis Orphanet:90021 MONDO:equivalentTo Radiation myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation myelitis -MONDO:0019530 non-syndromic syndactyly Orphanet:90025 MONDO:equivalentTo Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic syndactyly -MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency Orphanet:90030 MONDO:equivalentTo Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to glutathione reductase deficiency -MONDO:0019532 autoimmune hemolytic anemia, warm type Orphanet:90033 MONDO:equivalentTo Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia, warm type -MONDO:0019533 paroxysmal cold hemoglobinuria Orphanet:90035 MONDO:equivalentTo Paroxysmal cold hemoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal cold hemoglobinuria -MONDO:0019534 mixed-type autoimmune hemolytic anemia Orphanet:90036 MONDO:equivalentTo Mixed-type autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed-type autoimmune hemolytic anemia -MONDO:0019535 drug-induced autoimmune hemolytic anemia Orphanet:90037 MONDO:equivalentTo Drug-induced autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced autoimmune hemolytic anemia -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome Orphanet:90038 MONDO:equivalentTo Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shiga toxin-associated hemolytic uremic syndrome -MONDO:0019537 hemoglobin D disease Orphanet:90039 MONDO:equivalentTo Hemoglobin D disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobin d disease -MONDO:0019540 diffuse alveolar hemorrhage Orphanet:90060 MONDO:equivalentTo Diffuse alveolar hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse alveolar hemorrhage -MONDO:0019542 acute liver failure Orphanet:90062 MONDO:equivalentTo Acute liver failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute liver failure -MONDO:0019543 acquired aneurysmal subarachnoid hemorrhage Orphanet:90065 MONDO:equivalentTo Acquired aneurysmal subarachnoid hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired aneurysmal subarachnoid hemorrhage -MONDO:0019544 cocaine intoxication Orphanet:90068 MONDO:equivalentTo Cocaine intoxication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cocaine intoxication -MONDO:0019545 systemic monochloroacetate poisoning Orphanet:90069 MONDO:equivalentTo Systemic monochloroacetate poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic monochloroacetate poisoning -MONDO:0019547 Wells syndrome Orphanet:901 MONDO:equivalentTo Wells syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wells syndrome -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease Orphanet:90114 MONDO:equivalentTo Autosomal dominant intermediate Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant intermediate charcot-marie-tooth disease -MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency Orphanet:90118 MONDO:equivalentTo Severe early-onset axonal neuropathy due to MFN2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe early-onset axonal neuropathy due to mfn2 deficiency -MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy Orphanet:90119 MONDO:equivalentTo Hereditary motor and sensory neuropathy with acrodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy with acrodystrophy -MONDO:0019551 hereditary motor and sensory neuropathy type 6 Orphanet:90120 MONDO:equivalentTo Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy type 6 -MONDO:0019552 centrifugal lipodystrophy Orphanet:90156 MONDO:equivalentTo Centrifugal lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label centrifugal lipodystrophy -MONDO:0019553 drug-induced localized lipodystrophy Orphanet:90157 MONDO:equivalentTo Drug-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced localized lipodystrophy -MONDO:0019554 idiopathic localized lipodystrophy Orphanet:90158 MONDO:equivalentTo Idiopathic localized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic localized lipodystrophy -MONDO:0019556 pressure-induced localized lipoatrophy Orphanet:90160 MONDO:equivalentTo Pressure-induced localized lipoatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pressure-induced localized lipoatrophy -MONDO:0019557 chilblain lupus Orphanet:90280 MONDO:equivalentTo Chilblain lupus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chilblain lupus -MONDO:0019558 discoid lupus erythematosus Orphanet:90281 MONDO:equivalentTo Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus -MONDO:0019559 hypertrophic or verrucous lupus erythematosus Orphanet:90282 MONDO:equivalentTo Hypertrophic or verrucous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic or verrucous lupus erythematosus -MONDO:0019560 lupus erythematosus tumidus Orphanet:90283 MONDO:equivalentTo Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus tumidus -MONDO:0019561 lupus erythematosus panniculitis Orphanet:90285 MONDO:equivalentTo Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus panniculitis -MONDO:0019562 localized scleroderma Orphanet:90289 MONDO:equivalentTo Localized scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized scleroderma -MONDO:0019569 Cockayne syndrome type 1 Orphanet:90321 MONDO:equivalentTo Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 1 -MONDO:0019570 Cockayne syndrome type 2 Orphanet:90322 MONDO:equivalentTo Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cockayne syndrome type 2 -MONDO:0019571 autosomal dominant cutis laxa Orphanet:90348 MONDO:equivalentTo Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cutis laxa -MONDO:0019572 autosomal recessive cutis laxa type 1 Orphanet:90349 MONDO:equivalentTo Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 1 -MONDO:0019573 autosomal recessive cutis laxa type 2 Orphanet:90350 MONDO:equivalentTo Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive cutis laxa type 2 -MONDO:0019574 secondary intestinal lymphangiectasia Orphanet:90363 MONDO:equivalentTo Secondary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary intestinal lymphangiectasia -MONDO:0019575 hypotrichosis simplex of the scalp Orphanet:90368 MONDO:equivalentTo Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis simplex of the scalp -MONDO:0019576 telangiectasia macularis eruptiva perstans Orphanet:90389 MONDO:equivalentTo Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telangiectasia macularis eruptiva perstans -MONDO:0019577 anonychia-onychodystrophy syndrome Orphanet:90390 MONDO:equivalentTo Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anonychia-onychodystrophy syndrome -MONDO:0019578 nodular lichen myxedematosus Orphanet:90393 MONDO:equivalentTo Nodular lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lichen myxedematosus -MONDO:0019579 discrete papular lichen myxedematosus Orphanet:90394 MONDO:equivalentTo Discrete papular lichen myxedematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discrete papular lichen myxedematosus -MONDO:0019580 papular mucinosis of infancy Orphanet:90395 MONDO:equivalentTo Papular mucinosis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papular mucinosis of infancy -MONDO:0019581 acral persistent papular mucinosis Orphanet:90396 MONDO:equivalentTo Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acral persistent papular mucinosis -MONDO:0019582 self-healing papular mucinosis Orphanet:90397 MONDO:equivalentTo Self-healing papular mucinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label self-healing papular mucinosis -MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes Orphanet:90398 MONDO:equivalentTo Localized lichen myxedematosus with mixed features of different subtypes semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus with mixed features of different subtypes -MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Orphanet:90399 MONDO:equivalentTo Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms -MONDO:0019585 scleromyxedema without monoclonal gammopathy Orphanet:90400 MONDO:equivalentTo Scleromyxedema without monoclonal gammopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleromyxedema without monoclonal gammopathy -MONDO:0019600 xeroderma pigmentosum Orphanet:910 MONDO:equivalentTo Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum -MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome Orphanet:91136 MONDO:equivalentTo Acquired monoclonal Ig light chain-associated Fanconi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired monoclonal ig light chain-associated fanconi syndrome -MONDO:0019605 immunotactoid or fibrillary glomerulopathy Orphanet:91137 MONDO:equivalentTo Immunotactoid or fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid or fibrillary glomerulopathy -MONDO:0019606 simple cryoglobulinemia Orphanet:91139 MONDO:equivalentTo Simple cryoglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simple cryoglobulinemia -MONDO:0019607 unspecified juvenile idiopathic arthritis Orphanet:91140 MONDO:equivalentTo Unspecified juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unspecified juvenile idiopathic arthritis -MONDO:0019610 Zollinger-Ellison syndrome Orphanet:913 MONDO:equivalentTo Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zollinger-ellison syndrome -MONDO:0019611 TSH-secreting pituitary adenoma Orphanet:91347 MONDO:equivalentTo TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tsh-secreting pituitary adenoma -MONDO:0019612 functioning gonadotropic adenoma Orphanet:91348 MONDO:equivalentTo Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label functioning gonadotropic adenoma -MONDO:0019613 non-functioning pituitary adenoma Orphanet:91349 MONDO:equivalentTo Non-functioning pituitary adenoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-functioning pituitary adenoma -MONDO:0019615 pituitary dermoid and epidermoid cysts Orphanet:91351 MONDO:equivalentTo Pituitary dermoid and epidermoid cysts semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dermoid and epidermoid cysts -MONDO:0019617 pituitary deficiency due to empty sella turcica syndrome Orphanet:91354 MONDO:equivalentTo Pituitary deficiency due to empty sella turcica syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary deficiency due to empty sella turcica syndrome -MONDO:0019618 Sheehan syndrome Orphanet:91355 MONDO:equivalentTo Sheehan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sheehan syndrome -MONDO:0019620 congenital esophageal diverticulum Orphanet:91358 MONDO:equivalentTo Congenital esophageal diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital esophageal diverticulum -MONDO:0019621 chronic pneumonitis of infancy Orphanet:91359 MONDO:equivalentTo Chronic pneumonitis of infancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic pneumonitis of infancy -MONDO:0019622 non-specific interstitial pneumonia Orphanet:91364 MONDO:equivalentTo Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific interstitial pneumonia -MONDO:0019623 hereditary angioedema Orphanet:91378 MONDO:equivalentTo Hereditary angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema -MONDO:0019624 acquired angioedema Orphanet:91385 MONDO:equivalentTo Acquired angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection Orphanet:91387 MONDO:equivalentTo Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial thoracic aortic aneurysm and aortic dissection -MONDO:0019626 isolated ankyloblepharon filiforme adnatum Orphanet:91397 MONDO:equivalentTo Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated ankyloblepharon filiforme adnatum -MONDO:0019627 isolated congenital alacrima Orphanet:91416 MONDO:equivalentTo Isolated congenital alacrima semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital alacrima -MONDO:0019628 Rieger anomaly Orphanet:91483 MONDO:equivalentTo Rieger anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rieger anomaly -MONDO:0019630 congenital ectropion uveae Orphanet:91491 MONDO:equivalentTo Congenital ectropion uveae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion uveae -MONDO:0019631 persistent hyperplastic primary vitreous Orphanet:91495 MONDO:equivalentTo Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent hyperplastic primary vitreous -MONDO:0019632 Lyme disease Orphanet:91546 MONDO:equivalentTo Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease -MONDO:0019633 relapsing fever Orphanet:91547 MONDO:equivalentTo Relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing fever -MONDO:0019634 familial nasal acilia Orphanet:922 MONDO:equivalentTo Familial nasal acilia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial nasal acilia -MONDO:0019635 idiopathic achalasia Orphanet:930 MONDO:equivalentTo Idiopathic achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic achalasia -MONDO:0019636 renal agenesis, unilateral Orphanet:93100 MONDO:equivalentTo Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral -MONDO:0019637 renal hypoplasia Orphanet:93101 MONDO:equivalentTo Renal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia -MONDO:0019638 renal dysplasia Orphanet:93108 MONDO:equivalentTo Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia -MONDO:0019639 congenital megacalycosis Orphanet:93109 MONDO:equivalentTo Congenital megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital megacalycosis -MONDO:0019640 posterior urethral valve Orphanet:93110 MONDO:equivalentTo Posterior urethral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior urethral valve -MONDO:0019641 Pauci-immune glomerulonephritis Orphanet:93126 MONDO:equivalentTo Pauci-immune glomerulonephritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis -MONDO:0019643 transient pseudohypoaldosteronism Orphanet:93164 MONDO:equivalentTo Transient pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient pseudohypoaldosteronism -MONDO:0019644 renal dysplasia, unilateral Orphanet:93172 MONDO:equivalentTo Renal dysplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia, unilateral -MONDO:0019645 renal dysplasia, bilateral Orphanet:93173 MONDO:equivalentTo Renal dysplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia, bilateral -MONDO:0019646 unilateral congenital megacalycosis Orphanet:93176 MONDO:equivalentTo Unilateral congenital megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral congenital megacalycosis -MONDO:0019647 congenital bilateral megacalycosis Orphanet:93177 MONDO:equivalentTo Congenital bilateral megacalycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital bilateral megacalycosis -MONDO:0019648 achondrogenesis Orphanet:932 MONDO:equivalentTo Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis -MONDO:0019659 Pfeiffer syndrome type 1 Orphanet:93258 MONDO:equivalentTo Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 1 -MONDO:0019660 Pfeiffer syndrome type 2 Orphanet:93259 MONDO:equivalentTo Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 2 -MONDO:0019661 Pfeiffer syndrome type 3 Orphanet:93260 MONDO:equivalentTo Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfeiffer syndrome type 3 -MONDO:0019662 short rib-polydactyly syndrome, Majewski type Orphanet:93269 MONDO:equivalentTo Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label short rib-polydactyly syndrome, majewski type -MONDO:0019665 monostotic fibrous dysplasia Orphanet:93277 MONDO:equivalentTo Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monostotic fibrous dysplasia -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type Orphanet:93282 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, papss2 type -MONDO:0019667 spondyloepiphyseal dysplasia tarda Orphanet:93284 MONDO:equivalentTo Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia tarda -MONDO:0019668 adenoma of pancreas Orphanet:93292 MONDO:equivalentTo Adenoma of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenoma of pancreas -MONDO:0019669 hypochondrogenesis Orphanet:93297 MONDO:equivalentTo Hypochondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondrogenesis -MONDO:0019670 ulnar hemimelia Orphanet:93320 MONDO:equivalentTo Ulnar hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulnar hemimelia -MONDO:0019671 radial hemimelia Orphanet:93321 MONDO:equivalentTo Radial hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radial hemimelia -MONDO:0019672 fibular hemimelia Orphanet:93323 MONDO:equivalentTo Fibular hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibular hemimelia -MONDO:0019673 postaxial polydactyly type A Orphanet:93334 MONDO:equivalentTo Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly type a -MONDO:0019674 postaxial polydactyly type B Orphanet:93335 MONDO:equivalentTo Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postaxial polydactyly type b -MONDO:0019676 brachydactyly type B Orphanet:93383 MONDO:equivalentTo Brachydactyly type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type b -MONDO:0019677 brachydactyly type E Orphanet:93387 MONDO:equivalentTo Brachydactyly type E semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type e -MONDO:0019679 brachydactyly type A7 Orphanet:93397 MONDO:equivalentTo Brachydactyly type A7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brachydactyly type a7 -MONDO:0019680 genochondromatosis type 2 Orphanet:93398 MONDO:equivalentTo Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label genochondromatosis type 2 -MONDO:0019681 juvenile sialidosis type 2 Orphanet:93399 MONDO:equivalentTo Juvenile sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile sialidosis type 2 -MONDO:0019682 congenital sialidosis type 2 Orphanet:93400 MONDO:equivalentTo Congenital sialidosis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital sialidosis type 2 -MONDO:0019685 FGFR3-related chondrodysplasia Orphanet:93420 MONDO:equivalentTo FGFR3-related chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fgfr3-related chondrodysplasia -MONDO:0019689 perlecan-related bone disorder Orphanet:93424 MONDO:equivalentTo Perlecan-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perlecan-related bone disorder -MONDO:0019690 filamin-related bone disorder Orphanet:93425 MONDO:equivalentTo Filamin-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filamin-related bone disorder -MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia Orphanet:93429 MONDO:equivalentTo Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple epiphyseal dysplasia and pseudoachondroplasia -MONDO:0019693 multiple metaphyseal dysplasia Orphanet:93430 MONDO:equivalentTo Multiple metaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple metaphyseal dysplasia -MONDO:0019694 spondylodysplastic dysplasia Orphanet:93434 MONDO:equivalentTo Spondylodysplastic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylodysplastic dysplasia -MONDO:0019695 acromelic dysplasia Orphanet:93436 MONDO:equivalentTo Acromelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromelic dysplasia -MONDO:0019696 acromesomelic dysplasia Orphanet:93437 MONDO:equivalentTo Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromesomelic dysplasia -MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia Orphanet:93438 MONDO:equivalentTo Mesomelic and rhizo-mesomelic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic and rhizo-mesomelic dysplasia -MONDO:0019699 slender bone dysplasia Orphanet:93440 MONDO:equivalentTo Slender bone dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slender bone dysplasia -MONDO:0019701 chondrodysplasia punctata Orphanet:93442 MONDO:equivalentTo Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata -MONDO:0019702 neonatal osteosclerotic dysplasia Orphanet:93443 MONDO:equivalentTo Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal osteosclerotic dysplasia -MONDO:0019707 primary osteolysis Orphanet:93449 MONDO:equivalentTo Primary osteolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary osteolysis -MONDO:0019712 patellar dysostosis Orphanet:93455 MONDO:equivalentTo Patellar dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar dysostosis -MONDO:0019713 non-syndromic limb reduction defect Orphanet:93457 MONDO:equivalentTo Non-syndromic limb reduction defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic limb reduction defect -MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 MONDO:equivalentTo Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic polydactyly, syndactyly and/or hyperphalangy -MONDO:0019716 overgrowth syndrome Orphanet:93460 MONDO:equivalentTo Overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth syndrome -MONDO:0019718 lethal chondrodysplasia Orphanet:93465 MONDO:equivalentTo Lethal chondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal chondrodysplasia -MONDO:0019725 pediatric systemic lupus erythematosus Orphanet:93552 MONDO:equivalentTo Pediatric systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric systemic lupus erythematosus -MONDO:0019727 mixed cryoglobulinemia type III Orphanet:93555 MONDO:equivalentTo Mixed cryoglobulinemia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed cryoglobulinemia type iii -MONDO:0019728 heavy chain deposition disease Orphanet:93556 MONDO:equivalentTo Heavy chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heavy chain deposition disease -MONDO:0019729 light and heavy chain deposition disease Orphanet:93557 MONDO:equivalentTo Light and heavy chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light and heavy chain deposition disease -MONDO:0019730 light chain deposition disease Orphanet:93558 MONDO:equivalentTo Light chain deposition disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label light chain deposition disease -MONDO:0019731 AApoAI amyloidosis Orphanet:93560 MONDO:equivalentTo AApoAI amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aapoai amyloidosis -MONDO:0019732 ALys amyloidosis Orphanet:93561 MONDO:equivalentTo ALys amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alys amyloidosis -MONDO:0019733 AFib amyloidosis Orphanet:93562 MONDO:equivalentTo AFib amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label afib amyloidosis -MONDO:0019734 juvenile polymyositis Orphanet:93568 MONDO:equivalentTo Juvenile polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile polymyositis -MONDO:0019735 polymyalgia rheumatica Orphanet:93569 MONDO:equivalentTo Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica -MONDO:0019736 dense deposit disease Orphanet:93571 MONDO:equivalentTo Dense deposit disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dense deposit disease -MONDO:0019737 thrombotic microangiopathy Orphanet:93573 MONDO:equivalentTo Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy -MONDO:0019742 late-onset nephronophthisis Orphanet:93589 MONDO:equivalentTo Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset nephronophthisis -MONDO:0019745 cystinuria type A Orphanet:93612 MONDO:equivalentTo Cystinuria type A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria type a -MONDO:0019746 cystinuria type B Orphanet:93613 MONDO:equivalentTo Cystinuria type B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystinuria type b -MONDO:0019751 autoinflammatory syndrome Orphanet:93665 MONDO:equivalentTo Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome -MONDO:0019756 lobar holoprosencephaly Orphanet:93924 MONDO:equivalentTo Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobar holoprosencephaly -MONDO:0019757 alobar holoprosencephaly Orphanet:93925 MONDO:equivalentTo Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alobar holoprosencephaly -MONDO:0019761 laryngotracheoesophageal cleft type 1 Orphanet:93938 MONDO:equivalentTo Laryngotracheoesophageal cleft type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 1 -MONDO:0019762 laryngotracheoesophageal cleft type 2 Orphanet:93939 MONDO:equivalentTo Laryngotracheoesophageal cleft type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 2 -MONDO:0019763 laryngotracheoesophageal cleft type 3 Orphanet:93940 MONDO:equivalentTo Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 3 -MONDO:0019764 laryngotracheoesophageal cleft type 4 Orphanet:93941 MONDO:equivalentTo Laryngotracheoesophageal cleft type 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngotracheoesophageal cleft type 4 -MONDO:0019766 X-linked intellectual disability, Porteous type Orphanet:93945 MONDO:equivalentTo X-linked intellectual disability, Porteous type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, porteous type -MONDO:0019767 hamel cerebro-palato-cardiac syndrome Orphanet:93946 MONDO:equivalentTo Hamel cerebro-palato-cardiac syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hamel cerebro-palato-cardiac syndrome -MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type Orphanet:93947 MONDO:equivalentTo X-linked intellectual disability, Golabi-Ito-Hall type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, golabi-ito-hall type -MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type Orphanet:93950 MONDO:equivalentTo X-linked intellectual disability, Sutherland-Haan type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked intellectual disability, sutherland-haan type -MONDO:0019771 oromandibular dystonia Orphanet:93958 MONDO:equivalentTo Oromandibular dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oromandibular dystonia -MONDO:0019772 blepharospasm-oromandibular dystonia syndrome Orphanet:93964 MONDO:equivalentTo Blepharospasm-oromandibular dystonia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm-oromandibular dystonia syndrome -MONDO:0019780 anotia Orphanet:93976 MONDO:equivalentTo Anotia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anotia -MONDO:0019782 humero-ulnar synostosis Orphanet:94056 MONDO:equivalentTo Humero-ulnar synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humero-ulnar synostosis -MONDO:0019783 neovascular glaucoma Orphanet:94058 MONDO:equivalentTo Neovascular glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neovascular glaucoma -MONDO:0019784 12q14 microdeletion syndrome Orphanet:94063 MONDO:equivalentTo 12q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 12q14 microdeletion syndrome -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Orphanet:94066 MONDO:equivalentTo Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia -MONDO:0019789 cytophagic histiocytic panniculitis Orphanet:94087 MONDO:equivalentTo Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cytophagic histiocytic panniculitis -MONDO:0019790 neuroleptic malignant syndrome Orphanet:94093 MONDO:equivalentTo Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuroleptic malignant syndrome -MONDO:0019791 recessive mitochondrial ataxia syndrome Orphanet:94125 MONDO:equivalentTo Recessive mitochondrial ataxia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recessive mitochondrial ataxia syndrome -MONDO:0019792 autosomal dominant cerebellar ataxia type I Orphanet:94145 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type i -MONDO:0019793 autosomal dominant cerebellar ataxia type III Orphanet:94148 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type III semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type iii -MONDO:0019794 autosomal dominant cerebellar ataxia type IV Orphanet:94149 MONDO:equivalentTo Autosomal dominant cerebellar ataxia type IV semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia type iv -MONDO:0019795 acalvaria Orphanet:945 MONDO:equivalentTo Acalvaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acalvaria -MONDO:0019797 acrodysostosis Orphanet:950 MONDO:equivalentTo Acrodysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodysostosis -MONDO:0019799 hepatoerythropoietic porphyria Orphanet:95159 MONDO:equivalentTo Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatoerythropoietic porphyria -MONDO:0019801 acute adrenal insufficiency Orphanet:95409 MONDO:equivalentTo Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute adrenal insufficiency -MONDO:0019802 secondary short bowel syndrome Orphanet:95427 MONDO:equivalentTo Secondary short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary short bowel syndrome -MONDO:0019803 angioma serpiginosum Orphanet:95429 MONDO:equivalentTo Angioma serpiginosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioma serpiginosum -MONDO:0019805 twin to twin transfusion syndrome Orphanet:95431 MONDO:equivalentTo Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin to twin transfusion syndrome -MONDO:0019806 primary progressive aphasia Orphanet:95432 MONDO:equivalentTo Primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia -MONDO:0019807 mesocardia Orphanet:95443 MONDO:equivalentTo Mesocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesocardia -MONDO:0019810 toxic epidermal necrolysis Orphanet:537 MONDO:equivalentTo Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis -MONDO:0019811 tricuspid valve agenesis Orphanet:95457 MONDO:equivalentTo Tricuspid valve agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tricuspid valve agenesis -MONDO:0019813 congenital tricuspid stenosis Orphanet:95459 MONDO:equivalentTo Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis -MONDO:0019814 straddling or overriding tricuspid valve Orphanet:95461 MONDO:equivalentTo Straddling or overriding tricuspid valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label straddling or overriding tricuspid valve -MONDO:0019815 accessory tricuspid valve tissue Orphanet:95462 MONDO:equivalentTo Accessory tricuspid valve tissue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label accessory tricuspid valve tissue -MONDO:0019817 congenital mitral valve insufficiency and/or stenosis Orphanet:95464 MONDO:equivalentTo Congenital mitral valve insufficiency and/or stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral valve insufficiency and/or stenosis -MONDO:0019818 cleft mitral valve Orphanet:95465 MONDO:equivalentTo Cleft mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft mitral valve -MONDO:0019819 double-orifice mitral valve Orphanet:95474 MONDO:equivalentTo Double-orifice mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double-orifice mitral valve -MONDO:0019820 univentricular cardiopathy Orphanet:95483 MONDO:equivalentTo Univentricular cardiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label univentricular cardiopathy -MONDO:0019823 premature closure of the arterial duct Orphanet:95486 MONDO:equivalentTo Premature closure of the arterial duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature closure of the arterial duct -MONDO:0019824 non-acquired pituitary hormone deficiency Orphanet:95488 MONDO:equivalentTo Non-acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-acquired pituitary hormone deficiency -MONDO:0019825 congenital coronary artery aneurysm Orphanet:95491 MONDO:equivalentTo Congenital coronary artery aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital coronary artery aneurysm -MONDO:0019828 pituitary stalk interruption syndrome Orphanet:95496 MONDO:equivalentTo Pituitary stalk interruption syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary stalk interruption syndrome -MONDO:0019829 congenital anomaly of superior vena cava Orphanet:95498 MONDO:equivalentTo Congenital anomaly of superior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of superior vena cava -MONDO:0019830 congenital anomaly of the inferior vena cava Orphanet:95499 MONDO:equivalentTo Congenital anomaly of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of the inferior vena cava -MONDO:0019832 acquired pituitary hormone deficiency Orphanet:95502 MONDO:equivalentTo Acquired pituitary hormone deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired pituitary hormone deficiency -MONDO:0019835 primary hypophysitis Orphanet:95506 MONDO:equivalentTo Primary hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypophysitis -MONDO:0019836 congenital anomaly of hepatic vein Orphanet:95507 MONDO:equivalentTo Congenital anomaly of hepatic vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of hepatic vein -MONDO:0019838 adenohypophysitis Orphanet:95512 MONDO:equivalentTo Adenohypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adenohypophysitis -MONDO:0019839 panhypophysitis Orphanet:95513 MONDO:equivalentTo Panhypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panhypophysitis -MONDO:0019846 acquired central diabetes insipidus Orphanet:95626 MONDO:equivalentTo Acquired central diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired central diabetes insipidus -MONDO:0019854 thyroid ectopia Orphanet:95712 MONDO:equivalentTo Thyroid ectopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid ectopia -MONDO:0019855 athyreosis Orphanet:95713 MONDO:equivalentTo Athyreosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label athyreosis -MONDO:0019858 idiopathic congenital hypothyroidism Orphanet:95717 MONDO:equivalentTo Idiopathic congenital hypothyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic congenital hypothyroidism -MONDO:0019860 thyroid hemiagenesis Orphanet:95719 MONDO:equivalentTo Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hemiagenesis -MONDO:0019861 thyroid hypoplasia Orphanet:95720 MONDO:equivalentTo Thyroid hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hypoplasia -MONDO:0019862 levocardia Orphanet:95854 MONDO:equivalentTo Levocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label levocardia -MONDO:0019864 tetrasomy 21 Orphanet:96055 MONDO:equivalentTo Tetrasomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetrasomy 21 -MONDO:0019865 mosaic trisomy 4 Orphanet:96059 MONDO:equivalentTo Mosaic trisomy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 4 -MONDO:0019866 mosaic trisomy 5 Orphanet:96060 MONDO:equivalentTo Mosaic trisomy 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 5 -MONDO:0019867 mosaic trisomy 8 Orphanet:96061 MONDO:equivalentTo Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 8 -MONDO:0019868 mosaic trisomy 10 Orphanet:96063 MONDO:equivalentTo Mosaic trisomy 10 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 10 -MONDO:0019869 mosaic trisomy 22 Orphanet:96068 MONDO:equivalentTo Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 22 -MONDO:0019873 4p16.3 microduplication syndrome Orphanet:96072 MONDO:equivalentTo 4p16.3 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 4p16.3 microduplication syndrome -MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication Orphanet:96076 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to 11p15 microduplication semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to 11p15 microduplication -MONDO:0019876 8p inverted duplication/deletion syndrome Orphanet:96092 MONDO:equivalentTo 8p inverted duplication/deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 8p inverted duplication/deletion syndrome -MONDO:0019878 3q26 microduplication syndrome Orphanet:96095 MONDO:equivalentTo 3q26 microduplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3q26 microduplication syndrome -MONDO:0019891 monosomy 22 Orphanet:96123 MONDO:equivalentTo Monosomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 22 -MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion Orphanet:96147 MONDO:equivalentTo Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome due to 9q34 microdeletion -MONDO:0019902 monosomy 13q34 Orphanet:96168 MONDO:equivalentTo Monosomy 13q34 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy 13q34 -MONDO:0019910 maternal uniparental disomy of chromosome 2 Orphanet:96179 MONDO:equivalentTo Maternal uniparental disomy of chromosome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 2 -MONDO:0019911 maternal uniparental disomy of chromosome 4 Orphanet:96180 MONDO:equivalentTo Maternal uniparental disomy of chromosome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 4 -MONDO:0019912 maternal uniparental disomy of chromosome 6 Orphanet:96181 MONDO:equivalentTo Maternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 6 -MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Orphanet:96182 MONDO:equivalentTo Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label silver-russell syndrome due to maternal uniparental disomy of chromosome 7 -MONDO:0019914 maternal uniparental disomy of chromosome 9 Orphanet:96183 MONDO:equivalentTo Maternal uniparental disomy of chromosome 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 9 -MONDO:0019916 maternal uniparental disomy of chromosome 16 Orphanet:96185 MONDO:equivalentTo Maternal uniparental disomy of chromosome 16 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 16 -MONDO:0019917 maternal uniparental disomy of chromosome 20 Orphanet:96186 MONDO:equivalentTo Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 20 -MONDO:0019918 maternal uniparental disomy of chromosome 21 Orphanet:96187 MONDO:equivalentTo Maternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 21 -MONDO:0019919 maternal uniparental disomy of chromosome 22 Orphanet:96188 MONDO:equivalentTo Maternal uniparental disomy of chromosome 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 22 -MONDO:0019920 paternal uniparental disomy of chromosome 5 Orphanet:96190 MONDO:equivalentTo Paternal uniparental disomy of chromosome 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 5 -MONDO:0019921 paternal uniparental disomy of chromosome 6 Orphanet:96191 MONDO:equivalentTo Paternal uniparental disomy of chromosome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 6 -MONDO:0019922 paternal uniparental disomy of chromosome 7 Orphanet:96192 MONDO:equivalentTo Paternal uniparental disomy of chromosome 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 7 -MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Orphanet:96193 MONDO:equivalentTo Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beckwith-wiedemann syndrome due to paternal uniparental disomy of chromosome 11 -MONDO:0019924 paternal uniparental disomy of chromosome 20 Orphanet:96194 MONDO:equivalentTo Paternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 20 -MONDO:0019925 paternal uniparental disomy of chromosome 21 Orphanet:96195 MONDO:equivalentTo Paternal uniparental disomy of chromosome 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 21 -MONDO:0019926 X small rings Orphanet:96201 MONDO:equivalentTo X small rings semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x small rings -MONDO:0019928 48,XXXY syndrome Orphanet:96263 MONDO:equivalentTo 48,XXXY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xxxy syndrome -MONDO:0019929 49,XXXXY syndrome Orphanet:96264 MONDO:equivalentTo 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xxxxy syndrome -MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance Orphanet:96265 MONDO:equivalentTo Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia due to complete lh resistance -MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance Orphanet:96266 MONDO:equivalentTo Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leydig cell hypoplasia due to partial lh resistance -MONDO:0019932 isolated partial vaginal agenesis Orphanet:96269 MONDO:equivalentTo Isolated partial vaginal agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated partial vaginal agenesis -MONDO:0019933 acromegaly Orphanet:963 MONDO:equivalentTo Acromegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acromegaly -MONDO:0019934 polyploidy Orphanet:96321 MONDO:equivalentTo Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy -MONDO:0019935 isochromosome Y Orphanet:96325 MONDO:equivalentTo Isochromosome Y semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosome y -MONDO:0019938 anorectal malformation Orphanet:96346 MONDO:equivalentTo Anorectal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorectal malformation -MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 Orphanet:970 MONDO:equivalentTo Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary sensory and autonomic neuropathy type 2 -MONDO:0019942 distal arthrogryposis Orphanet:97120 MONDO:equivalentTo Distal arthrogryposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal arthrogryposis -MONDO:0019943 hereditary continuous muscle fiber activity Orphanet:972 MONDO:equivalentTo Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary continuous muscle fiber activity -MONDO:0019944 Eisenmenger syndrome Orphanet:97214 MONDO:equivalentTo Eisenmenger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eisenmenger syndrome -MONDO:0019945 solar urticaria Orphanet:97230 MONDO:equivalentTo Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria -MONDO:0019948 reducing body myopathy Orphanet:97239 MONDO:equivalentTo Reducing body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reducing body myopathy -MONDO:0019949 zebra body myopathy Orphanet:97240 MONDO:equivalentTo Zebra body myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zebra body myopathy -MONDO:0019950 congenital muscular dystrophy Orphanet:97242 MONDO:equivalentTo Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital muscular dystrophy -MONDO:0019951 rigid spine syndrome Orphanet:97244 MONDO:equivalentTo Rigid spine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rigid spine syndrome -MONDO:0019952 congenital myopathy Orphanet:97245 MONDO:equivalentTo Congenital myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy -MONDO:0019953 mega-cisterna magna Orphanet:97252 MONDO:equivalentTo Mega-cisterna magna semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mega-cisterna magna -MONDO:0019955 GRFoma Orphanet:97261 MONDO:equivalentTo GRFoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grfoma -MONDO:0019956 encephalitis Orphanet:97275 MONDO:equivalentTo Encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalitis -MONDO:0019957 PPoma Orphanet:97278 MONDO:equivalentTo PPoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ppoma -MONDO:0019959 glucagonoma Orphanet:97280 MONDO:equivalentTo Glucagonoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucagonoma -MONDO:0019960 VIPoma Orphanet:97282 MONDO:equivalentTo VIPoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vipoma -MONDO:0019962 thyroid lymphoma Orphanet:97285 MONDO:equivalentTo Thyroid lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid lymphoma -MONDO:0019964 thymic neuroendocrine tumor Orphanet:97289 MONDO:equivalentTo Thymic neuroendocrine tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine tumor -MONDO:0019967 Kienbock disease Orphanet:97332 MONDO:equivalentTo Kienbock disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kienbock disease -MONDO:0019969 panner disease Orphanet:97336 MONDO:equivalentTo Panner disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panner disease -MONDO:0019970 Sinding-Larsen-Johansson disease Orphanet:97337 MONDO:equivalentTo Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sinding-larsen-johansson disease -MONDO:0019971 melanoma of soft tissue Orphanet:97338 MONDO:equivalentTo Melanoma of soft tissue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label melanoma of soft tissue -MONDO:0019972 dural sinus malformation Orphanet:97339 MONDO:equivalentTo Dural sinus malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dural sinus malformation -MONDO:0019973 persistent placoid maculopathy Orphanet:97341 MONDO:equivalentTo Persistent placoid maculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent placoid maculopathy -MONDO:0019975 pellagra Orphanet:97352 MONDO:equivalentTo Pellagra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pellagra -MONDO:0019976 dementia pugilistica Orphanet:97353 MONDO:equivalentTo Dementia pugilistica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dementia pugilistica -MONDO:0019978 Robinow syndrome Orphanet:97360 MONDO:equivalentTo Robinow syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label robinow syndrome -MONDO:0019979 renal hypoplasia, unilateral Orphanet:97361 MONDO:equivalentTo Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral -MONDO:0019980 renal hypoplasia, bilateral Orphanet:97362 MONDO:equivalentTo Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral -MONDO:0019981 unilateral multicystic dysplastic kidney Orphanet:97363 MONDO:equivalentTo Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unilateral multicystic dysplastic kidney -MONDO:0019982 bilateral multicystic dysplastic kidney Orphanet:97364 MONDO:equivalentTo Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral multicystic dysplastic kidney -MONDO:0019983 multiloculated renal cyst Orphanet:97366 MONDO:equivalentTo Multiloculated renal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiloculated renal cyst -MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion Orphanet:97367 MONDO:equivalentTo Renal tubular dysgenesis due to twin-twin transfusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis due to twin-twin transfusion -MONDO:0019985 drug-related renal tubular dysgenesis Orphanet:97368 MONDO:equivalentTo Drug-related renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-related renal tubular dysgenesis -MONDO:0019988 pauci-immune glomerulonephritis with ANCA Orphanet:97563 MONDO:equivalentTo Pauci-immune glomerulonephritis with ANCA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis with anca -MONDO:0019989 pauci-immune glomerulonephritis without ANCA Orphanet:97564 MONDO:equivalentTo Pauci-immune glomerulonephritis without ANCA semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pauci-immune glomerulonephritis without anca -MONDO:0019990 non-amyloid fibrillary glomerulopathy Orphanet:97566 MONDO:equivalentTo Non-amyloid fibrillary glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-amyloid fibrillary glomerulopathy -MONDO:0019991 immunotactoid glomerulopathy Orphanet:97567 MONDO:equivalentTo Immunotactoid glomerulopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotactoid glomerulopathy -MONDO:0019992 pseudohypoparathyroidism Orphanet:97593 MONDO:equivalentTo Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism -MONDO:0019993 congenital renal artery stenosis Orphanet:97598 MONDO:equivalentTo Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis -MONDO:0019994 maternal uniparental disomy of chromosome 13 Orphanet:97678 MONDO:equivalentTo Maternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label maternal uniparental disomy of chromosome 13 -MONDO:0019998 gastroduodenal malformation Orphanet:97944 MONDO:equivalentTo Gastroduodenal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroduodenal malformation -MONDO:0019999 intestinal malformation Orphanet:97945 MONDO:equivalentTo Intestinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal malformation -MONDO:0020001 respiratory or thoracic malformation Orphanet:97957 MONDO:equivalentTo Respiratory or thoracic malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory or thoracic malformation -MONDO:0020007 absence of the pulmonary artery Orphanet:980 MONDO:equivalentTo Absence of the pulmonary artery semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of the pulmonary artery -MONDO:0020018 cranial malformation Orphanet:98038 MONDO:equivalentTo Cranial malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cranial malformation -MONDO:0020019 digestive tract malformation Orphanet:98039 MONDO:equivalentTo Digestive tract malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digestive tract malformation -MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:98041 MONDO:equivalentTo Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral malformation of the liver, biliary tract, pancreas or spleen -MONDO:0020022 central nervous system malformation Orphanet:98044 MONDO:equivalentTo Central nervous system malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system malformation -MONDO:0020023 respiratory or mediastinal malformation Orphanet:98045 MONDO:equivalentTo Respiratory or mediastinal malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label respiratory or mediastinal malformation -MONDO:0020043 autosomal recessive congenital cerebellar ataxia Orphanet:98095 MONDO:equivalentTo Autosomal recessive congenital cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive congenital cerebellar ataxia -MONDO:0020044 autosomal recessive metabolic cerebellar ataxia Orphanet:98096 MONDO:equivalentTo Autosomal recessive metabolic cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive metabolic cerebellar ataxia -MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia Orphanet:98098 MONDO:equivalentTo Autosomal recessive degenerative and progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive degenerative and progressive cerebellar ataxia -MONDO:0020047 autosomal recessive syndromic cerebellar ataxia Orphanet:98099 MONDO:equivalentTo Autosomal recessive syndromic cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive syndromic cerebellar ataxia -MONDO:0020049 autosomal anomaly Orphanet:98127 MONDO:equivalentTo Autosomal anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal anomaly -MONDO:0020064 pulmonary valve agenesis Orphanet:982 MONDO:equivalentTo Pulmonary valve agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve agenesis -MONDO:0020065 combined dystonia Orphanet:98203 MONDO:equivalentTo Combined dystonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined dystonia -MONDO:0020066 Ehlers-Danlos syndrome Orphanet:98249 MONDO:equivalentTo Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome -MONDO:0020067 infectious encephalitis Orphanet:98252 MONDO:equivalentTo Infectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious encephalitis -MONDO:0020070 neonatal epilepsy syndrome Orphanet:98257 MONDO:equivalentTo Neonatal epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal epilepsy syndrome -MONDO:0020071 infantile epilepsy syndrome Orphanet:98258 MONDO:equivalentTo Infantile epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile epilepsy syndrome -MONDO:0020072 childhood-onset epilepsy syndrome Orphanet:98259 MONDO:equivalentTo Childhood-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset epilepsy syndrome -MONDO:0020073 adolescent-onset epilepsy syndrome Orphanet:98260 MONDO:equivalentTo Adolescent-onset epilepsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adolescent-onset epilepsy syndrome -MONDO:0020076 myeloproliferative neoplasm Orphanet:98274 MONDO:equivalentTo Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloproliferative neoplasm -MONDO:0020077 myelodysplastic/myeloproliferative disease Orphanet:98275 MONDO:equivalentTo Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelodysplastic/myeloproliferative disease -MONDO:0020082 dendritic cell tumor Orphanet:98289 MONDO:equivalentTo Dendritic cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dendritic cell tumor -MONDO:0020083 immunodeficiency-associated lymphoproliferative disease Orphanet:98290 MONDO:equivalentTo Immunodeficiency-associated lymphoproliferative disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunodeficiency-associated lymphoproliferative disease -MONDO:0020088 familial partial lipodystrophy Orphanet:98306 MONDO:equivalentTo Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial partial lipodystrophy -MONDO:0020089 acquired lipodystrophy Orphanet:98307 MONDO:equivalentTo Acquired lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired lipodystrophy -MONDO:0020102 hereditary stomatocytosis Orphanet:98365 MONDO:equivalentTo Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary stomatocytosis -MONDO:0020108 autoimmune hemolytic anemia Orphanet:98375 MONDO:equivalentTo Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hemolytic anemia -MONDO:0020110 pulmonary agenesis Orphanet:984 MONDO:equivalentTo Pulmonary agenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary agenesis -MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia Orphanet:98415 MONDO:equivalentTo Vitamin B12- and folate-independent constitutional megaloblastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin b12- and folate-independent constitutional megaloblastic anemia -MONDO:0020113 primary acquired red cell aplasia Orphanet:98421 MONDO:equivalentTo Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary acquired red cell aplasia -MONDO:0020115 secondary polycythemia Orphanet:98428 MONDO:equivalentTo Secondary polycythemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary polycythemia -MONDO:0020117 alpha granule disease Orphanet:98455 MONDO:equivalentTo Alpha granule disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpha granule disease -MONDO:0020121 muscular dystrophy Orphanet:98473 MONDO:equivalentTo Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy -MONDO:0020123 metabolic myopathy Orphanet:98486 MONDO:equivalentTo Metabolic myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic myopathy -MONDO:0020124 neuromuscular junction disease Orphanet:98491 MONDO:equivalentTo Neuromuscular junction disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromuscular junction disease -MONDO:0020129 acquired motor neuron disease Orphanet:98506 MONDO:equivalentTo Acquired motor neuron disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired motor neuron disease -MONDO:0020143 cerebral lipidosis with dementia Orphanet:98544 MONDO:equivalentTo Cerebral lipidosis with dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral lipidosis with dementia -MONDO:0020153 cryptophthalmia Orphanet:98562 MONDO:equivalentTo Cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptophthalmia -MONDO:0020161 congenital ectropion Orphanet:98570 MONDO:equivalentTo Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion -MONDO:0020212 superficial corneal dystrophy Orphanet:98625 MONDO:equivalentTo Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label superficial corneal dystrophy -MONDO:0020213 stromal corneal dystrophy Orphanet:98626 MONDO:equivalentTo Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stromal corneal dystrophy -MONDO:0020214 posterior corneal dystrophy Orphanet:98627 MONDO:equivalentTo Posterior corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior corneal dystrophy -MONDO:0020249 hereditary optic neuropathy Orphanet:98671 MONDO:equivalentTo Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary optic neuropathy -MONDO:0020250 autosomal dominant optic atrophy Orphanet:98672 MONDO:equivalentTo Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant optic atrophy -MONDO:0020283 uveitis Orphanet:98715 MONDO:equivalentTo Uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label uveitis -MONDO:0020289 congenital tricuspid malformation Orphanet:98721 MONDO:equivalentTo Congenital tricuspid malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid malformation -MONDO:0020291 hypoplastic right heart syndrome Orphanet:98723 MONDO:equivalentTo Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome -MONDO:0020292 congenital anomaly of the great arteries Orphanet:98724 MONDO:equivalentTo Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital anomaly of the great arteries -MONDO:0020295 congenital pulmonary veins anomaly Orphanet:98729 MONDO:equivalentTo Congenital pulmonary veins anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary veins anomaly -MONDO:0020296 congenital arteriovenous fistula Orphanet:98731 MONDO:equivalentTo Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital arteriovenous fistula -MONDO:0020297 Noonan syndrome and Noonan-related syndrome Orphanet:98733 MONDO:equivalentTo Noonan syndrome and Noonan-related syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noonan syndrome and noonan-related syndrome -MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Orphanet:98754 MONDO:equivalentTo Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to maternal uniparental disomy of chromosome 15 -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy Orphanet:98784 MONDO:equivalentTo Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant nocturnal frontal lobe epilepsy -MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion Orphanet:98793 MONDO:equivalentTo Prader-Willi syndrome due to paternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prader-willi syndrome due to paternal 15q11q13 deletion -MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion Orphanet:98794 MONDO:equivalentTo Angelman syndrome due to maternal 15q11q13 deletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to maternal 15q11q13 deletion -MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Orphanet:98795 MONDO:equivalentTo Angelman syndrome due to paternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angelman syndrome due to paternal uniparental disomy of chromosome 15 -MONDO:0020304 isochromosomy Yp Orphanet:98797 MONDO:equivalentTo Isochromosomy Yp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosomy yp -MONDO:0020305 isochromosomy Yq Orphanet:98798 MONDO:equivalentTo Isochromosomy Yq semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isochromosomy yq -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type Orphanet:98815 MONDO:equivalentTo Benign childhood occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign childhood occipital epilepsy, panayiotopoulos type -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type Orphanet:98816 MONDO:equivalentTo Benign childhood occipital epilepsy, Gastaut type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign childhood occipital epilepsy, gastaut type -MONDO:0020310 familial focal epilepsy with variable foci Orphanet:98820 MONDO:equivalentTo Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial focal epilepsy with variable foci -MONDO:0020311 chronic myelomonocytic leukemia Orphanet:98823 MONDO:equivalentTo Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic myelomonocytic leukemia -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Orphanet:98829 MONDO:equivalentTo Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) -MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities Orphanet:98831 MONDO:equivalentTo Acute myeloid leukemia with 11q23 abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloid leukemia with 11q23 abnormalities -MONDO:0020320 acute myeloblastic leukemia with maturation Orphanet:98834 MONDO:equivalentTo Acute myeloblastic leukemia with maturation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myeloblastic leukemia with maturation -MONDO:0020321 acute undifferentiated leukemia Orphanet:98835 MONDO:equivalentTo Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute undifferentiated leukemia -MONDO:0020323 primary mediastinal large B-cell lymphoma Orphanet:98838 MONDO:equivalentTo Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary mediastinal large b-cell lymphoma -MONDO:0020324 intravascular large B-cell lymphoma Orphanet:98839 MONDO:equivalentTo Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma -MONDO:0020325 anaplastic large cell lymphoma Orphanet:98841 MONDO:equivalentTo Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic large cell lymphoma -MONDO:0020326 lymphomatoid papulosis Orphanet:98842 MONDO:equivalentTo Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid papulosis -MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type Orphanet:98843 MONDO:equivalentTo Classic Hodgkin lymphoma, nodular sclerosis type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic hodgkin lymphoma, nodular sclerosis type -MONDO:0020331 indolent systemic mastocytosis Orphanet:98848 MONDO:equivalentTo Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indolent systemic mastocytosis -MONDO:0020333 aggressive systemic mastocytosis Orphanet:98850 MONDO:equivalentTo Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aggressive systemic mastocytosis -MONDO:0020334 mast cell leukemia Orphanet:98851 MONDO:equivalentTo Mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mast cell leukemia -MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy Orphanet:98853 MONDO:equivalentTo Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant emery-dreifuss muscular dystrophy -MONDO:0020340 bilateral perisylvian polymicrogyria Orphanet:98889 MONDO:equivalentTo Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bilateral perisylvian polymicrogyria -MONDO:0020341 periventricular nodular heterotopia Orphanet:98892 MONDO:equivalentTo Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periventricular nodular heterotopia -MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy Orphanet:98916 MONDO:equivalentTo Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute inflammatory demyelinating polyradiculoneuropathy -MONDO:0020348 acute motor and sensory axonal neuropathy Orphanet:98917 MONDO:equivalentTo Acute motor and sensory axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute motor and sensory axonal neuropathy -MONDO:0020349 acute motor axonal neuropathy Orphanet:98918 MONDO:equivalentTo Acute motor axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute motor axonal neuropathy -MONDO:0020351 Blake pouch cyst Orphanet:98922 MONDO:equivalentTo Blake pouch cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blake pouch cyst -MONDO:0020352 multiple system atrophy, parkinsonian type Orphanet:98933 MONDO:equivalentTo Multiple system atrophy, parkinsonian type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple system atrophy, parkinsonian type -MONDO:0020354 coloboma of choroid and retina Orphanet:98942 MONDO:equivalentTo Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of choroid and retina -MONDO:0020355 coloboma of eye lens Orphanet:98943 MONDO:equivalentTo Coloboma of eye lens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of eye lens -MONDO:0020356 coloboma of iris Orphanet:98944 MONDO:equivalentTo Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris -MONDO:0020357 coloboma of eyelid Orphanet:98946 MONDO:equivalentTo Coloboma of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of eyelid -MONDO:0020359 congenital symblepharon Orphanet:98948 MONDO:equivalentTo Congenital symblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital symblepharon -MONDO:0020360 complete cryptophthalmia Orphanet:98949 MONDO:equivalentTo Complete cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete cryptophthalmia -MONDO:0020361 partial cryptophthalmia Orphanet:98950 MONDO:equivalentTo Partial cryptophthalmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label partial cryptophthalmia -MONDO:0020362 inverse Marcus-Gunn phenomenon Orphanet:98951 MONDO:equivalentTo Inverse Marcus-Gunn phenomenon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inverse marcus-gunn phenomenon -MONDO:0020364 posterior polymorphous corneal dystrophy Orphanet:98973 MONDO:equivalentTo Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior polymorphous corneal dystrophy -MONDO:0020365 congenital hereditary endothelial dystrophy type I Orphanet:98975 MONDO:equivalentTo Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hereditary endothelial dystrophy type i -MONDO:0020366 congenital glaucoma Orphanet:98976 MONDO:equivalentTo Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma -MONDO:0020368 Axenfeld anomaly Orphanet:98978 MONDO:equivalentTo Axenfeld anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label axenfeld anomaly -MONDO:0020369 Chandler syndrome Orphanet:98979 MONDO:equivalentTo Chandler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chandler syndrome -MONDO:0020370 Cogan-Reese syndrome Orphanet:98980 MONDO:equivalentTo Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cogan-reese syndrome -MONDO:0020371 essential iris atrophy Orphanet:98981 MONDO:equivalentTo Essential iris atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential iris atrophy -MONDO:0020372 early-onset sutural cataract Orphanet:98985 MONDO:equivalentTo Early-onset sutural cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset sutural cataract -MONDO:0020373 early-onset anterior polar cataract Orphanet:98988 MONDO:equivalentTo Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset anterior polar cataract -MONDO:0020374 cerulean cataract Orphanet:98989 MONDO:equivalentTo Cerulean cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerulean cataract -MONDO:0020376 early-onset nuclear cataract Orphanet:98991 MONDO:equivalentTo Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset nuclear cataract -MONDO:0020377 early-onset partial cataract Orphanet:98992 MONDO:equivalentTo Early-onset partial cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset partial cataract -MONDO:0020378 early-onset posterior polar cataract Orphanet:98993 MONDO:equivalentTo Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset posterior polar cataract -MONDO:0020379 early-onset zonular cataract Orphanet:98995 MONDO:equivalentTo Early-onset zonular cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset zonular cataract -MONDO:0020380 autosomal dominant cerebellar ataxia Orphanet:99 MONDO:equivalentTo Autosomal dominant cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant cerebellar ataxia -MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus Orphanet:99003 MONDO:equivalentTo Multifocal pattern dystrophy simulating fundus flavimaculatus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal pattern dystrophy simulating fundus flavimaculatus -MONDO:0020383 fundus pulverulentus Orphanet:99004 MONDO:equivalentTo Fundus pulverulentus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fundus pulverulentus -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation Orphanet:99042 MONDO:equivalentTo Congenitally uncorrected transposition of the great arteries with coarctation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenitally uncorrected transposition of the great arteries with coarctation -MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis Orphanet:99043 MONDO:equivalentTo Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis -MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect Orphanet:99045 MONDO:equivalentTo Double outlet right ventricle with subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with subpulmonary ventricular septal defect -MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect Orphanet:99046 MONDO:equivalentTo Double outlet right ventricle with non-committed subpulmonary ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle with non-committed subpulmonary ventricular septal defect -MONDO:0020390 pulmonary artery coming from patent ductus arteriosus Orphanet:99049 MONDO:equivalentTo Pulmonary artery coming from patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary artery coming from patent ductus arteriosus -MONDO:0020393 discrete fibromuscular subaortic stenosis Orphanet:99052 MONDO:equivalentTo Discrete fibromuscular subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discrete fibromuscular subaortic stenosis -MONDO:0020394 tunnel subaortic stenosis Orphanet:99053 MONDO:equivalentTo Tunnel subaortic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tunnel subaortic stenosis -MONDO:0020397 parachute tricuspid valve Orphanet:99056 MONDO:equivalentTo Parachute tricuspid valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parachute tricuspid valve -MONDO:0020398 congenital mitral stenosis Orphanet:99057 MONDO:equivalentTo Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis -MONDO:0020400 congenital supravalvular mitral ring Orphanet:99059 MONDO:equivalentTo Congenital supravalvular mitral ring semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital supravalvular mitral ring -MONDO:0020401 congenital unguarded mitral orifice Orphanet:99060 MONDO:equivalentTo Congenital unguarded mitral orifice semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital unguarded mitral orifice -MONDO:0020404 shone complex Orphanet:99063 MONDO:equivalentTo Shone complex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shone complex -MONDO:0020405 straddling and/or overriding mitral valve Orphanet:99064 MONDO:equivalentTo Straddling and/or overriding mitral valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label straddling and/or overriding mitral valve -MONDO:0020410 aorto-right ventricular tunnel Orphanet:99070 MONDO:equivalentTo Aorto-right ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-right ventricular tunnel -MONDO:0020411 aorto-left ventricular tunnel Orphanet:99071 MONDO:equivalentTo Aorto-left ventricular tunnel semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aorto-left ventricular tunnel -MONDO:0020412 congenital patent ductus arteriosus aneurysm Orphanet:99072 MONDO:equivalentTo Congenital patent ductus arteriosus aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital patent ductus arteriosus aneurysm -MONDO:0020413 encircling double aortic arch Orphanet:99075 MONDO:equivalentTo Encircling double aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encircling double aortic arch -MONDO:0020414 persistent fifth aortic arch Orphanet:99076 MONDO:equivalentTo Persistent fifth aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent fifth aortic arch -MONDO:0020415 Kommerell diverticulum Orphanet:99077 MONDO:equivalentTo Kommerell diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kommerell diverticulum -MONDO:0020416 Neuhauser anomaly Orphanet:99078 MONDO:equivalentTo Neuhauser anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuhauser anomaly -MONDO:0020417 right aortic arch Orphanet:99081 MONDO:equivalentTo Right aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right aortic arch -MONDO:0020418 dysphagia lusoria Orphanet:99082 MONDO:equivalentTo Dysphagia lusoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysphagia lusoria -MONDO:0020419 pulmonary artery hypoplasia Orphanet:99083 MONDO:equivalentTo Pulmonary artery hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary artery hypoplasia -MONDO:0020425 abnormal number of coronary ostia Orphanet:99089 MONDO:equivalentTo Abnormal number of coronary ostia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abnormal number of coronary ostia -MONDO:0020427 Laubry-Pezzi syndrome Orphanet:99094 MONDO:equivalentTo Laubry-Pezzi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laubry-pezzi syndrome -MONDO:0020428 congenital Gerbode defect Orphanet:99095 MONDO:equivalentTo Congenital Gerbode defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital gerbode defect -MONDO:0020429 cor triatriatum dexter Orphanet:99098 MONDO:equivalentTo Cor triatriatum dexter semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor triatriatum dexter -MONDO:0020430 cor triatriatum sinister Orphanet:99099 MONDO:equivalentTo Cor triatriatum sinister semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor triatriatum sinister -MONDO:0020431 juxtaposition of the atrial appendages Orphanet:99100 MONDO:equivalentTo Juxtaposition of the atrial appendages semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juxtaposition of the atrial appendages -MONDO:0020432 ectasia of the right atrial appendage Orphanet:99101 MONDO:equivalentTo Ectasia of the right atrial appendage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectasia of the right atrial appendage -MONDO:0020434 atrial septal defect, ostium secundum type Orphanet:99103 MONDO:equivalentTo Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, ostium secundum type -MONDO:0020435 atrial septal defect, coronary sinus type Orphanet:99104 MONDO:equivalentTo Atrial septal defect, coronary sinus type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, coronary sinus type -MONDO:0020436 atrial septal defect, sinus venosus type Orphanet:99105 MONDO:equivalentTo Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, sinus venosus type -MONDO:0020437 atrial septal defect, ostium primum type Orphanet:99106 MONDO:equivalentTo Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect, ostium primum type -MONDO:0020438 atrial septal aneurysm Orphanet:99107 MONDO:equivalentTo Atrial septal aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal aneurysm -MONDO:0020441 right superior vena cava connecting to left-sided atrium Orphanet:99110 MONDO:equivalentTo Right superior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right superior vena cava connecting to left-sided atrium -MONDO:0020443 absence of innominate vein Orphanet:99112 MONDO:equivalentTo Absence of innominate vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label absence of innominate vein -MONDO:0020444 subaortic course of innominate vein Orphanet:99113 MONDO:equivalentTo Subaortic course of innominate vein semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subaortic course of innominate vein -MONDO:0020445 agenesis of the superior vena cava Orphanet:99114 MONDO:equivalentTo Agenesis of the superior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agenesis of the superior vena cava -MONDO:0020446 coronary sinus stenosis Orphanet:99117 MONDO:equivalentTo Coronary sinus stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary sinus stenosis -MONDO:0020447 coronary sinus atresia Orphanet:99118 MONDO:equivalentTo Coronary sinus atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary sinus atresia -MONDO:0020448 right inferior vena cava connecting to left-sided atrium Orphanet:99119 MONDO:equivalentTo Right inferior vena cava connecting to left-sided atrium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label right inferior vena cava connecting to left-sided atrium -MONDO:0020449 persistent eustachian valve Orphanet:99120 MONDO:equivalentTo Persistent eustachian valve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label persistent eustachian valve -MONDO:0020450 azygos continuation of the inferior vena cava Orphanet:99121 MONDO:equivalentTo Azygos continuation of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label azygos continuation of the inferior vena cava -MONDO:0020451 congenital stenosis of the inferior vena cava Orphanet:99122 MONDO:equivalentTo Congenital stenosis of the inferior vena cava semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital stenosis of the inferior vena cava -MONDO:0020453 congenital partial pulmonary venous return anomaly Orphanet:99124 MONDO:equivalentTo Congenital partial pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital partial pulmonary venous return anomaly -MONDO:0020454 congenital complete agenesis of pericardium Orphanet:99129 MONDO:equivalentTo Congenital complete agenesis of pericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital complete agenesis of pericardium -MONDO:0020455 congenital partial agenesis of pericardium Orphanet:99130 MONDO:equivalentTo Congenital partial agenesis of pericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital partial agenesis of pericardium -MONDO:0020456 pleuro-pericardial cyst Orphanet:99131 MONDO:equivalentTo Pleuro-pericardial cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuro-pericardial cyst -MONDO:0020457 6-phosphogluconate dehydrogenase deficiency Orphanet:99135 MONDO:equivalentTo 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 6-phosphogluconate dehydrogenase deficiency -MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction Orphanet:99138 MONDO:equivalentTo Hemolytic anemia due to erythrocyte adenosine deaminase overproduction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemolytic anemia due to erythrocyte adenosine deaminase overproduction -MONDO:0020459 unstable hemoglobin disease Orphanet:99139 MONDO:equivalentTo Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label unstable hemoglobin disease -MONDO:0020460 acquired von willebrand syndrome Orphanet:99147 MONDO:equivalentTo Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired von willebrand syndrome -MONDO:0020461 epiblepharon Orphanet:99169 MONDO:equivalentTo Epiblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epiblepharon -MONDO:0020462 tarsal kink syndrome Orphanet:99170 MONDO:equivalentTo Tarsal kink syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal kink syndrome -MONDO:0020463 isolated congenital ectropion Orphanet:99171 MONDO:equivalentTo Isolated congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital ectropion -MONDO:0020464 euryblepharon Orphanet:99172 MONDO:equivalentTo Euryblepharon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euryblepharon -MONDO:0020465 congenital eyelid retraction Orphanet:99176 MONDO:equivalentTo Congenital eyelid retraction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital eyelid retraction -MONDO:0020466 monosomy X Orphanet:99226 MONDO:equivalentTo Monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy x -MONDO:0020467 mosaic monosomy X Orphanet:99228 MONDO:equivalentTo Mosaic monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic monosomy x -MONDO:0020468 paternal uniparental disomy of chromosome 13 Orphanet:99324 MONDO:equivalentTo Paternal uniparental disomy of chromosome 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paternal uniparental disomy of chromosome 13 -MONDO:0020469 48,XYYY syndrome Orphanet:99329 MONDO:equivalentTo 48,XYYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 48,xyyy syndrome -MONDO:0020470 49,XYYYY syndrome Orphanet:99330 MONDO:equivalentTo 49,XYYYY syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 49,xyyyy syndrome -MONDO:0020472 Turner syndrome due to structural X chromosome anomalies Orphanet:99413 MONDO:equivalentTo Turner syndrome due to structural X chromosome anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome due to structural x chromosome anomalies -MONDO:0020474 cheirospondyloenchondromatosis Orphanet:99647 MONDO:equivalentTo Cheirospondyloenchondromatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cheirospondyloenchondromatosis -MONDO:0020475 dermotrichic syndrome Orphanet:99688 MONDO:equivalentTo Dermotrichic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermotrichic syndrome -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis Orphanet:99701 MONDO:equivalentTo Mesial temporal lobe epilepsy with hippocampal sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesial temporal lobe epilepsy with hippocampal sclerosis -MONDO:0020478 Leber plus disease Orphanet:99718 MONDO:equivalentTo Leber plus disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber plus disease -MONDO:0020479 pituitary gigantism Orphanet:99725 MONDO:equivalentTo Pituitary gigantism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary gigantism -MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency Orphanet:99732 MONDO:equivalentTo Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sulfite oxidase deficiency due to molybdenum cofactor deficiency -MONDO:0020481 myotonia fluctuans Orphanet:99734 MONDO:equivalentTo Myotonia fluctuans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonia fluctuans -MONDO:0020482 myotonia permanens Orphanet:99735 MONDO:equivalentTo Myotonia permanens semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myotonia permanens -MONDO:0020483 acetazolamide-responsive myotonia Orphanet:99736 MONDO:equivalentTo Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acetazolamide-responsive myotonia -MONDO:0020485 King-Denborough syndrome Orphanet:99741 MONDO:equivalentTo King-Denborough syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label king-denborough syndrome -MONDO:0020487 Pontiac fever Orphanet:99748 MONDO:equivalentTo Pontiac fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pontiac fever -MONDO:0020488 atypical progressive supranuclear palsy syndrome Orphanet:99750 MONDO:equivalentTo Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical progressive supranuclear palsy syndrome -MONDO:0020490 mosaic trisomy 9 Orphanet:99776 MONDO:equivalentTo Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic trisomy 9 -MONDO:0020491 subcortical band heterotopia Orphanet:99796 MONDO:equivalentTo Subcortical band heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcortical band heterotopia -MONDO:0020492 hemimegalencephaly Orphanet:99802 MONDO:equivalentTo Hemimegalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemimegalencephaly -MONDO:0020493 Haddad syndrome Orphanet:99803 MONDO:equivalentTo Haddad syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haddad syndrome -MONDO:0020494 oculootodental syndrome Orphanet:99806 MONDO:equivalentTo Oculootodental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculootodental syndrome -MONDO:0020495 PEHO-like syndrome Orphanet:99807 MONDO:equivalentTo PEHO-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peho-like syndrome -MONDO:0020496 familial porencephaly Orphanet:99810 MONDO:equivalentTo Familial porencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial porencephaly -MONDO:0020497 Turcot syndrome with polyposis Orphanet:99818 MONDO:equivalentTo Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turcot syndrome with polyposis -MONDO:0020499 Nipah virus disease Orphanet:99825 MONDO:equivalentTo Nipah virus disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nipah virus disease -MONDO:0020500 Marburg hemorrhagic fever Orphanet:99826 MONDO:equivalentTo Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marburg hemorrhagic fever -MONDO:0020501 Crimean-Congo hemorrhagic fever Orphanet:99827 MONDO:equivalentTo Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crimean-congo hemorrhagic fever -MONDO:0020502 yellow fever Orphanet:99829 MONDO:equivalentTo Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever -MONDO:0020505 ravine syndrome Orphanet:99852 MONDO:equivalentTo Ravine syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ravine syndrome -MONDO:0020508 primary syringomyelia Orphanet:99856 MONDO:equivalentTo Primary syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary syringomyelia -MONDO:0020509 secondary syringomyelia Orphanet:99857 MONDO:equivalentTo Secondary syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary syringomyelia -MONDO:0020510 idiopathic syringomyelia Orphanet:99858 MONDO:equivalentTo Idiopathic syringomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic syringomyelia -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia Orphanet:99860 MONDO:equivalentTo Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precursor b-cell acute lymphoblastic leukemia -MONDO:0020512 precursor T-cell acute lymphoblastic leukemia Orphanet:99861 MONDO:equivalentTo Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precursor t-cell acute lymphoblastic leukemia -MONDO:0020513 spermatocytic seminoma Orphanet:99865 MONDO:equivalentTo Spermatocytic seminoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocytic seminoma -MONDO:0020516 thymic neuroendocrine carcinoma Orphanet:99869 MONDO:equivalentTo Thymic neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thymic neuroendocrine carcinoma -MONDO:0020525 transient neonatal diabetes mellitus Orphanet:99886 MONDO:equivalentTo Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus -MONDO:0020526 acute megakaryoblastic leukemia in down syndrome Orphanet:99887 MONDO:equivalentTo Acute megakaryoblastic leukemia in Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute megakaryoblastic leukemia in down syndrome -MONDO:0020528 ACTH-dependent Cushing syndrome Orphanet:99892 MONDO:equivalentTo ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acth-dependent cushing syndrome -MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Orphanet:99898 MONDO:equivalentTo Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency -MONDO:0020532 spirillary rat-bite fever Orphanet:99903 MONDO:equivalentTo Spirillary rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spirillary rat-bite fever -MONDO:0020533 streptobacillary rat-bite fever Orphanet:99905 MONDO:equivalentTo Streptobacillary rat-bite fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptobacillary rat-bite fever -MONDO:0020535 house allergic alveolitis Orphanet:99907 MONDO:equivalentTo House allergic alveolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label house allergic alveolitis -MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor Orphanet:99913 MONDO:equivalentTo Extragonadal non-dysgerminomatous germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extragonadal non-dysgerminomatous germ cell tumor -MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified Orphanet:99917 MONDO:equivalentTo Theca steroid-producing cell malignant tumor of ovary, not further specified semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label theca steroid-producing cell malignant tumor of ovary, not further specified -MONDO:0020544 streptococcal toxic-shock syndrome Orphanet:99918 MONDO:equivalentTo Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal toxic-shock syndrome -MONDO:0020545 staphylococcal toxic-shock syndrome Orphanet:99919 MONDO:equivalentTo Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal toxic-shock syndrome -MONDO:0020546 acute graft versus host disease Orphanet:99920 MONDO:equivalentTo Acute graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute graft versus host disease -MONDO:0020547 chronic graft versus host disease Orphanet:99921 MONDO:equivalentTo Chronic graft versus host disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic graft versus host disease -MONDO:0020550 gestational choriocarcinoma Orphanet:99926 MONDO:equivalentTo Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gestational choriocarcinoma -MONDO:0020552 placental site trophoblastic tumor Orphanet:99928 MONDO:equivalentTo Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placental site trophoblastic tumor -MONDO:0020553 secondary pulmonary hemosiderosis Orphanet:99930 MONDO:equivalentTo Secondary pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary pulmonary hemosiderosis -MONDO:0020554 Heiner syndrome Orphanet:99932 MONDO:equivalentTo Heiner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heiner syndrome -MONDO:0020555 pleuropulmonary blastoma type 1 Orphanet:99933 MONDO:equivalentTo Pleuropulmonary blastoma type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 1 -MONDO:0020556 pleuropulmonary blastoma type 2 Orphanet:99934 MONDO:equivalentTo Pleuropulmonary blastoma type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 2 -MONDO:0020557 pleuropulmonary blastoma type 3 Orphanet:99935 MONDO:equivalentTo Pleuropulmonary blastoma type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleuropulmonary blastoma type 3 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K Orphanet:99944 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2k -MONDO:0020559 O'Sullivan-McLeod syndrome Orphanet:99965 MONDO:equivalentTo O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label o'sullivan-mcleod syndrome -MONDO:0020560 atypical teratoid rhabdoid tumor Orphanet:99966 MONDO:equivalentTo Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical teratoid rhabdoid tumor -MONDO:0020561 myxoid/round cell liposarcoma Orphanet:99967 MONDO:equivalentTo Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myxoid/round cell liposarcoma -MONDO:0020562 pleomorphic liposarcoma Orphanet:99969 MONDO:equivalentTo Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleomorphic liposarcoma -MONDO:0020563 Dedifferentiated liposarcoma Orphanet:99970 MONDO:equivalentTo Dedifferentiated liposarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dedifferentiated liposarcoma -MONDO:0020567 apnea of prematurity Orphanet:99981 MONDO:equivalentTo Apnea of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apnea of prematurity -MONDO:0020568 cutaneous myiasis Orphanet:99983 MONDO:equivalentTo Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis -MONDO:0020569 intermediate DEND syndrome Orphanet:99989 MONDO:equivalentTo Intermediate DEND syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermediate dend syndrome -MONDO:0020571 relapsing epidemic typhus Orphanet:99991 MONDO:equivalentTo Relapsing epidemic typhus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing epidemic typhus -MONDO:0020572 complex regional pain syndrome type 2 Orphanet:99994 MONDO:equivalentTo Complex regional pain syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complex regional pain syndrome type 2 -MONDO:0020640 autoimmune encephalitis Orphanet:622014 MONDO:equivalentTo Autoimmune encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune encephalitis -MONDO:0020659 upper tract urothelial carcinoma Orphanet:598216 MONDO:equivalentTo Upper tract urothelial carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label upper tract urothelial carcinoma -MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency Orphanet:264580 MONDO:equivalentTo Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disease due to liver phosphorylase kinase deficiency -MONDO:0020702 autosomal dominant epidermolytic ichthyosis Orphanet:312 MONDO:equivalentTo Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epidermolytic ichthyosis -MONDO:0020743 mixed phenotype acute leukemia Orphanet:530995 MONDO:equivalentTo Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia -MONDO:0020774 Menke-Hennekam syndrome Orphanet:592574 MONDO:equivalentTo Menke-Hennekam syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menke-hennekam syndrome -MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome Orphanet:521438 MONDO:equivalentTo Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital vertebral-cardiac-renal anomalies syndrome -MONDO:0021019 X-linked recessive ocular albinism Orphanet:54 MONDO:equivalentTo X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked recessive ocular albinism -MONDO:0021020 Crigler-Najjar syndrome type 1 Orphanet:79234 MONDO:equivalentTo Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome type 1 -MONDO:0021022 hereditary hyperekplexia Orphanet:3197 MONDO:equivalentTo Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary hyperekplexia -MONDO:0021023 complete androgen insensitivity syndrome Orphanet:99429 MONDO:equivalentTo Complete androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete androgen insensitivity syndrome -MONDO:0021054 bone sarcoma Orphanet:223727 MONDO:equivalentTo Bone sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone sarcoma -MONDO:0021060 RASopathy Orphanet:536391 MONDO:equivalentTo RASopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rasopathy -MONDO:0021106 laminopathy Orphanet:98301 MONDO:equivalentTo Laminopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laminopathy -MONDO:0021107 narcolepsy Orphanet:619284 MONDO:equivalentTo Narcolepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy -MONDO:0021133 acquired factor XIII deficiency Orphanet:599513 MONDO:equivalentTo Acquired factor XIII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xiii deficiency -MONDO:0021134 acquired factor X deficiency Orphanet:599501 MONDO:equivalentTo Acquired factor X deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor x deficiency -MONDO:0021154 dermis disorder Orphanet:79377 MONDO:equivalentTo Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder -MONDO:0021176 autoimmune hepatitis type 2 Orphanet:563581 MONDO:equivalentTo Autoimmune hepatitis type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis type 2 -MONDO:0021548 total early-onset cataract Orphanet:98994 MONDO:equivalentTo Total early-onset cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label total early-onset cataract -MONDO:0022410 retinal ciliopathy Orphanet:156165 MONDO:equivalentTo Retinal ciliopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinal ciliopathy -MONDO:0022825 congenital cystic eye Orphanet:519384 MONDO:equivalentTo Congenital cystic eye semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cystic eye -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Orphanet:617916 MONDO:equivalentTo Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -MONDO:0023880 WHIM syndrome Orphanet:51636 MONDO:equivalentTo WHIM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whim syndrome -MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Orphanet:488613 MONDO:equivalentTo Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome -MONDO:0024300 hypophosphatemic rickets Orphanet:437 MONDO:equivalentTo Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatemic rickets -MONDO:0024336 vulvar adenocarcinoma Orphanet:494454 MONDO:equivalentTo Vulvar adenocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar adenocarcinoma -MONDO:0024472 boutonneuse fever Orphanet:83313 MONDO:equivalentTo Boutonneuse fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label boutonneuse fever -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency Orphanet:538931 MONDO:equivalentTo X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked lymphoproliferative disease due to sh2d1a deficiency -MONDO:0024609 vulvar squamous cell carcinoma Orphanet:494448 MONDO:equivalentTo Vulvar squamous cell carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulvar squamous cell carcinoma -MONDO:0025193 oculopharyngodistal myopathy Orphanet:98897 MONDO:equivalentTo Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy -MONDO:0025514 livedoid vasculopathy Orphanet:542643 MONDO:equivalentTo Livedoid vasculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedoid vasculopathy -MONDO:0025667 limbal stem cell deficiency Orphanet:171673 MONDO:equivalentTo Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbal stem cell deficiency -MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome Orphanet:2241 MONDO:equivalentTo Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-microcolon-intestinal hypoperistalsis syndrome -MONDO:0026777 VEXAS syndrome Orphanet:596753 MONDO:equivalentTo VEXAS syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vexas syndrome -MONDO:0027749 serpinopathy Orphanet:250805 MONDO:equivalentTo Serpinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serpinopathy -MONDO:0028226 autosomal recessive severe congenital neutropenia Orphanet:439849 MONDO:equivalentTo Autosomal recessive severe congenital neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive severe congenital neutropenia -MONDO:0030073 Mitchell syndrome Orphanet:631248 MONDO:equivalentTo Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome -MONDO:0030899 oculocutaneous albinism type 8 Orphanet:597733 MONDO:equivalentTo Oculocutaneous albinism type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculocutaneous albinism type 8 -MONDO:0030914 Clark-Baraitser syndrome Orphanet:600731 MONDO:equivalentTo Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clark-baraitser syndrome -MONDO:0031169 odontochondrodysplasia Orphanet:166272 MONDO:equivalentTo Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontochondrodysplasia -MONDO:0031213 restrictive dermopathy Orphanet:1662 MONDO:equivalentTo Restrictive dermopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy -MONDO:0031257 high altitude pulmonary edema Orphanet:330012 MONDO:equivalentTo High altitude pulmonary edema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label high altitude pulmonary edema -MONDO:0031415 Carey-Fineman-Ziter syndrome Orphanet:1358 MONDO:equivalentTo Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carey-fineman-ziter syndrome -MONDO:0032653 cardiac-urogenital syndrome Orphanet:647811 MONDO:equivalentTo Cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac-urogenital syndrome -MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type Orphanet:370015 MONDO:equivalentTo Spondyloepimetaphyseal dysplasia, Isidor-Toutain type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepimetaphyseal dysplasia, isidor-toutain type -MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome Orphanet:50817 MONDO:equivalentTo Duane anomaly-myopathy-scoliosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane anomaly-myopathy-scoliosis syndrome -MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Orphanet:508533 MONDO:equivalentTo Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome -MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Orphanet:508542 MONDO:equivalentTo Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome -MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation Orphanet:512260 MONDO:equivalentTo Congenital cerebellar ataxia due to RNU12 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cerebellar ataxia due to rnu12 mutation -MONDO:0033809 isolated blepharochalasis Orphanet:519390 MONDO:equivalentTo Isolated blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated blepharochalasis -MONDO:0033810 isolated iridoschisis Orphanet:519392 MONDO:equivalentTo Isolated iridoschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated iridoschisis -MONDO:0033818 Terrien marginal degeneration Orphanet:519410 MONDO:equivalentTo Terrien marginal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label terrien marginal degeneration -MONDO:0033821 fungal keratitis Orphanet:519930 MONDO:equivalentTo Fungal keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fungal keratitis -MONDO:0033838 radiation-induced plexopathy Orphanet:521123 MONDO:equivalentTo Radiation-induced plexopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation-induced plexopathy -MONDO:0033839 osteoradionecrosis of the mandible Orphanet:521127 MONDO:equivalentTo Osteoradionecrosis of the mandible semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteoradionecrosis of the mandible -MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect Orphanet:521411 MONDO:equivalentTo Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect -MONDO:0033853 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome Orphanet:521432 MONDO:equivalentTo Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome -MONDO:0033856 LAMA5-related multisystemic syndrome Orphanet:521450 MONDO:equivalentTo LAMA5-related multisystemic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lama5-related multisystemic syndrome -MONDO:0033862 primary autoimmune enteropathy Orphanet:522037 MONDO:equivalentTo Primary autoimmune enteropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary autoimmune enteropathy -MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Orphanet:522077 MONDO:equivalentTo Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome -MONDO:0033925 pediatric-onset Graves disease Orphanet:525731 MONDO:equivalentTo Pediatric-onset Graves disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric-onset graves disease -MONDO:0033926 prepubertal anorexia nervosa Orphanet:525738 MONDO:equivalentTo Prepubertal anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prepubertal anorexia nervosa -MONDO:0033938 acute radiation syndrome Orphanet:454831 MONDO:equivalentTo Acute radiation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute radiation syndrome -MONDO:0033946 hereditary angioedema with C1Inh deficiency Orphanet:528623 MONDO:equivalentTo Hereditary angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema with c1inh deficiency -MONDO:0033948 acquired angioedema with C1Inh deficiency Orphanet:528663 MONDO:equivalentTo Acquired angioedema with C1Inh deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired angioedema with c1inh deficiency -MONDO:0033954 monoclonal mast cell activation syndrome Orphanet:529468 MONDO:equivalentTo Monoclonal mast cell activation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monoclonal mast cell activation syndrome -MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome Orphanet:529977 MONDO:equivalentTo Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome -MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome Orphanet:529980 MONDO:equivalentTo Inflammatory bowel disease-recurrent sinopulmonary infections syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inflammatory bowel disease-recurrent sinopulmonary infections syndrome -MONDO:0033980 RELA fusion-positive ependymoma Orphanet:530792 MONDO:equivalentTo RELA fusion-positive ependymoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rela fusion-positive ependymoma -MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome Orphanet:536471 MONDO:equivalentTo Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylodysplastic ehlers-danlos syndrome -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome Orphanet:536545 MONDO:equivalentTo Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic ehlers-danlos syndrome -MONDO:0034041 congenital axonal neuropathy with encephalopathy Orphanet:538101 MONDO:equivalentTo Congenital axonal neuropathy with encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital axonal neuropathy with encephalopathy -MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Orphanet:543470 MONDO:equivalentTo Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome -MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy Orphanet:544254 MONDO:equivalentTo SYNGAP1-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syngap1-related developmental and epileptic encephalopathy -MONDO:0034103 infection-related hemolytic uremic syndrome Orphanet:544482 MONDO:equivalentTo Infection-related hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infection-related hemolytic uremic syndrome -MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers Orphanet:544602 MONDO:equivalentTo Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital myopathy with reduced type 2 muscle fibers -MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome Orphanet:544628 MONDO:equivalentTo Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical fanconi syndrome-neonatal hyperinsulinism syndrome -MONDO:0034121 NAD(P)HX dehydratase deficiency Orphanet:555402 MONDO:equivalentTo NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nad(p)hx dehydratase deficiency -MONDO:0034127 IgA pemphigus Orphanet:555905 MONDO:equivalentTo IgA pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iga pemphigus -MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome Orphanet:556955 MONDO:equivalentTo Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pancreatic agenesis-holoprosencephaly syndrome -MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia Orphanet:556985 MONDO:equivalentTo Early-onset calcifying leukoencephalopathy-skeletal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset calcifying leukoencephalopathy-skeletal dysplasia -MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency Orphanet:557056 MONDO:equivalentTo Spastic ataxia-dysarthria due to glutaminase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic ataxia-dysarthria due to glutaminase deficiency -MONDO:0034150 idiopathic gastroparesis Orphanet:558411 MONDO:equivalentTo Idiopathic gastroparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic gastroparesis -MONDO:0034186 autosomal recessive extra-oral halitosis Orphanet:562538 MONDO:equivalentTo Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive extra-oral halitosis -MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome Orphanet:562639 MONDO:equivalentTo Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome -MONDO:0034204 syndromic congenital sodium diarrhea Orphanet:563708 MONDO:equivalentTo Syndromic congenital sodium diarrhea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic congenital sodium diarrhea -MONDO:0034212 methotrexate toxicity Orphanet:565782 MONDO:equivalentTo Methotrexate toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity -MONDO:0034216 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha Orphanet:566231 MONDO:equivalentTo Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha -MONDO:0034669 non-syndromic preaxial polydactyly Orphanet:498464 MONDO:equivalentTo Non-syndromic preaxial polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic preaxial polydactyly -MONDO:0034670 non-syndromic postaxial polydactyly Orphanet:498467 MONDO:equivalentTo Non-syndromic postaxial polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic postaxial polydactyly -MONDO:0034671 non-syndromic complex polydactyly Orphanet:498470 MONDO:equivalentTo Non-syndromic complex polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic complex polydactyly -MONDO:0034676 overgrowth syndrome with 2q37 translocation Orphanet:498488 MONDO:equivalentTo Overgrowth syndrome with 2q37 translocation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth syndrome with 2q37 translocation -MONDO:0034820 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Orphanet:508476 MONDO:equivalentTo Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy Orphanet:508501 MONDO:equivalentTo Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral-facial-digital syndrome with short stature and brachymesophalangy -MONDO:0034846 primary desmosis coli Orphanet:565641 MONDO:equivalentTo Primary desmosis coli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary desmosis coli -MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome Orphanet:514352 MONDO:equivalentTo Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome -MONDO:0034971 isolated congenital entropion Orphanet:519386 MONDO:equivalentTo Isolated congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital entropion -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease Orphanet:576379 MONDO:equivalentTo Iatrogenic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iatrogenic creutzfeldt-jakob disease -MONDO:0034978 isolated foveal hypoplasia Orphanet:519398 MONDO:equivalentTo Isolated foveal hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated foveal hypoplasia -MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas Orphanet:580572 MONDO:equivalentTo Intraductal tubulopapillary neoplasm of pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intraductal tubulopapillary neoplasm of pancreas -MONDO:0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome Orphanet:508498 MONDO:equivalentTo Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-cardiac anomalies-short stature-joint laxity syndrome -MONDO:0034991 intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome Orphanet:508512 MONDO:equivalentTo Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome -MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form Orphanet:583595 MONDO:equivalentTo Serine biosynthesis pathway deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serine biosynthesis pathway deficiency, infantile/juvenile form -MONDO:0035008 isolated splenic vein thrombosis Orphanet:583856 MONDO:equivalentTo Isolated splenic vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated splenic vein thrombosis -MONDO:0035009 isolated mesenteric vein thrombosis Orphanet:583861 MONDO:equivalentTo Isolated mesenteric vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated mesenteric vein thrombosis -MONDO:0035018 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome Orphanet:521308 MONDO:equivalentTo Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia-bifid nose-upper limb anomalies syndrome -MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome Orphanet:521445 MONDO:equivalentTo Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome -MONDO:0035105 diaphragmatic hernia-short bowel-asplenia syndrome Orphanet:527468 MONDO:equivalentTo Diaphragmatic hernia-short bowel-asplenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaphragmatic hernia-short bowel-asplenia syndrome -MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome Orphanet:589515 MONDO:equivalentTo PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pum1-associated developmental disability-ataxia-seizure syndrome -MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement Orphanet:589542 MONDO:equivalentTo Myeloid/lymphoid neoplasm associated with JAK2 rearrangement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid/lymphoid neoplasm associated with jak2 rearrangement -MONDO:0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder Orphanet:589547 MONDO:equivalentTo GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grin2b-related developmental delay, intellectual disability and autism spectrum disorder -MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Orphanet:589608 MONDO:equivalentTo Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies -MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Orphanet:589905 MONDO:equivalentTo PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome -MONDO:0035136 isolated melanotic schwannoma Orphanet:590539 MONDO:equivalentTo Isolated melanotic schwannoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated melanotic schwannoma -MONDO:0035149 secondary erythromelalgia Orphanet:529864 MONDO:equivalentTo Secondary erythromelalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary erythromelalgia -MONDO:0035151 17q24.2 microdeletion syndrome Orphanet:529962 MONDO:equivalentTo 17q24.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 17q24.2 microdeletion syndrome -MONDO:0035153 male infertility due to acephalic spermatozoa Orphanet:529970 MONDO:equivalentTo Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility due to acephalic spermatozoa -MONDO:0035159 dermoid or epidermoid cyst of the central nervous system Orphanet:530033 MONDO:equivalentTo Dermoid or epidermoid cyst of the central nervous system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermoid or epidermoid cyst of the central nervous system -MONDO:0035160 progressive myoclonic epilepsy with neuroserpin inclusion bodies Orphanet:530298 MONDO:equivalentTo Progressive myoclonic epilepsy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive myoclonic epilepsy with neuroserpin inclusion bodies -MONDO:0035161 progressive dementia with neuroserpin inclusion bodies Orphanet:530303 MONDO:equivalentTo Progressive dementia with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive dementia with neuroserpin inclusion bodies -MONDO:0035162 PIK3CA-related overgrowth syndrome Orphanet:530313 MONDO:equivalentTo PIK3CA-related overgrowth syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pik3ca-related overgrowth syndrome -MONDO:0035173 9q21.13 microdeletion syndrome Orphanet:531151 MONDO:equivalentTo 9q21.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q21.13 microdeletion syndrome -MONDO:0035220 PLG-related hereditary angioedema with normal C1inh Orphanet:537072 MONDO:equivalentTo PLG-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plg-related hereditary angioedema with normal c1inh -MONDO:0035235 classic pyoderma gangrenosum Orphanet:538863 MONDO:equivalentTo Classic pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic pyoderma gangrenosum -MONDO:0035236 pustular pyoderma gangrenosum Orphanet:538866 MONDO:equivalentTo Pustular pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustular pyoderma gangrenosum -MONDO:0035237 bullous pyoderma gangrenosum Orphanet:538869 MONDO:equivalentTo Bullous pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pyoderma gangrenosum -MONDO:0035238 vegetative pyoderma gangrenosum Orphanet:538872 MONDO:equivalentTo Vegetative pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vegetative pyoderma gangrenosum -MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality Orphanet:544472 MONDO:equivalentTo Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical hemolytic uremic syndrome with complement gene abnormality -MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome Orphanet:544493 MONDO:equivalentTo Streptococcus pneumoniae-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcus pneumoniae-associated hemolytic uremic syndrome -MONDO:0035295 congenital primary megaureter, refluxing and obstructed form Orphanet:544578 MONDO:equivalentTo Congenital primary megaureter, refluxing and obstructed form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary megaureter, refluxing and obstructed form -MONDO:0035312 fibrohistiocytic inflammatory pseudotumor of the liver Orphanet:555434 MONDO:equivalentTo Fibrohistiocytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrohistiocytic inflammatory pseudotumor of the liver -MONDO:0035313 lymphoplasmacytic inflammatory pseudotumor of the liver Orphanet:555437 MONDO:equivalentTo Lymphoplasmacytic inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphoplasmacytic inflammatory pseudotumor of the liver -MONDO:0035320 early-onset familial hypoaldosteronism Orphanet:556030 MONDO:equivalentTo Early-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset familial hypoaldosteronism -MONDO:0035321 late-onset familial hypoaldosteronism Orphanet:556037 MONDO:equivalentTo Late-onset familial hypoaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset familial hypoaldosteronism -MONDO:0035337 Duane retraction syndrome with congenital deafness Orphanet:529574 MONDO:equivalentTo Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duane retraction syndrome with congenital deafness -MONDO:0035344 acute bilirubin encephalopathy Orphanet:529799 MONDO:equivalentTo Acute bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bilirubin encephalopathy -MONDO:0035345 chronic bilirubin encephalopathy Orphanet:529808 MONDO:equivalentTo Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic bilirubin encephalopathy -MONDO:0035349 localized dystrophic epidermolysis bullosa Orphanet:595356 MONDO:equivalentTo Localized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label localized dystrophic epidermolysis bullosa -MONDO:0035350 letrozole toxicity Orphanet:529831 MONDO:equivalentTo Letrozole toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label letrozole toxicity -MONDO:0035357 portosinusoidal vascular disease Orphanet:596937 MONDO:equivalentTo Portosinusoidal vascular disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portosinusoidal vascular disease -MONDO:0035362 TRIM22-related inflammatory bowel disease Orphanet:597201 MONDO:equivalentTo TRIM22-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trim22-related inflammatory bowel disease -MONDO:0035370 ALPI-related inflammatory bowel disease Orphanet:597887 MONDO:equivalentTo ALPI-related inflammatory bowel disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alpi-related inflammatory bowel disease -MONDO:0035375 multisystem inflammatory syndrome in children and adults Orphanet:598363 MONDO:equivalentTo Multisystem inflammatory syndrome in children and adults semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multisystem inflammatory syndrome in children and adults -MONDO:0035383 FOXG1 syndrome Orphanet:561854 MONDO:equivalentTo FOXG1 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foxg1 syndrome -MONDO:0035400 seronegative autoimmune hepatitis Orphanet:563589 MONDO:equivalentTo Seronegative autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seronegative autoimmune hepatitis -MONDO:0035401 isolated anencephaly Orphanet:563609 MONDO:equivalentTo Isolated anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated anencephaly -MONDO:0035402 isolated exencephaly Orphanet:563612 MONDO:equivalentTo Isolated exencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated exencephaly -MONDO:0035403 serous cystadenoma of childhood Orphanet:563666 MONDO:equivalentTo Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label serous cystadenoma of childhood -MONDO:0035404 mucinous cystadenoma of childhood Orphanet:563671 MONDO:equivalentTo Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucinous cystadenoma of childhood -MONDO:0035405 seromucinous cystadenoma of childhood Orphanet:563676 MONDO:equivalentTo Seromucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label seromucinous cystadenoma of childhood -MONDO:0035406 furuncular myiasis due to Dermatobia hominis Orphanet:563684 MONDO:equivalentTo Furuncular myiasis due to Dermatobia hominis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to dermatobia hominis -MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga Orphanet:563687 MONDO:equivalentTo Furuncular myiasis due to Cordylobia anthropophaga semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to cordylobia anthropophaga -MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini Orphanet:563690 MONDO:equivalentTo Furuncular myiasis due to Cordylobia rodhaini semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label furuncular myiasis due to cordylobia rodhaini -MONDO:0035410 isolated congenital aglossia Orphanet:563951 MONDO:equivalentTo Isolated congenital aglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital aglossia -MONDO:0035411 isolated congenital hypoglossia Orphanet:563954 MONDO:equivalentTo Isolated congenital hypoglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated congenital hypoglossia -MONDO:0035432 POMGNT2-related limb-girdle muscular dystrophy R24 Orphanet:565899 MONDO:equivalentTo POMGNT2-related limb-girdle muscular dystrophy R24 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pomgnt2-related limb-girdle muscular dystrophy r24 -MONDO:0035433 calpain-3-related limb-girdle muscular dystrophy D4 Orphanet:565909 MONDO:equivalentTo Calpain-3-related limb-girdle muscular dystrophy D4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calpain-3-related limb-girdle muscular dystrophy d4 -MONDO:0035437 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome Orphanet:566067 MONDO:equivalentTo CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome -MONDO:0035441 congenital autosomal recessive small-platelet thrombocytopenia Orphanet:566192 MONDO:equivalentTo Congenital autosomal recessive small-platelet thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital autosomal recessive small-platelet thrombocytopenia -MONDO:0035444 acute mast cell leukemia Orphanet:566393 MONDO:equivalentTo Acute mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute mast cell leukemia -MONDO:0035445 chronic mast cell leukemia Orphanet:566396 MONDO:equivalentTo Chronic mast cell leukemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic mast cell leukemia -MONDO:0035447 liver adenomatosis Orphanet:566841 MONDO:equivalentTo Liver adenomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label liver adenomatosis -MONDO:0035449 atelencephaly Orphanet:566852 MONDO:equivalentTo Atelencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atelencephaly -MONDO:0035450 aprosencephaly Orphanet:566857 MONDO:equivalentTo Aprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aprosencephaly -MONDO:0035452 mueller-weiss syndrome Orphanet:566943 MONDO:equivalentTo Mueller-Weiss syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mueller-weiss syndrome -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Orphanet:567502 MONDO:equivalentTo B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-cell immunodeficiency-limb anomaly-urogenital malformation syndrome -MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome Orphanet:567550 MONDO:equivalentTo Idiopathic multidrug-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic multidrug-resistant nephrotic syndrome -MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy Orphanet:567552 MONDO:equivalentTo Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy -MONDO:0035472 GJC2-related late-onset primary lymphedema Orphanet:568051 MONDO:equivalentTo GJC2-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gjc2-related late-onset primary lymphedema -MONDO:0035473 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome Orphanet:568056 MONDO:equivalentTo Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome -MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis Orphanet:568062 MONDO:equivalentTo PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis -MONDO:0035475 EPHB4-related lymphatic-related hydrops fetalis Orphanet:568065 MONDO:equivalentTo EPHB4-related lymphatic-related hydrops fetalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ephb4-related lymphatic-related hydrops fetalis -MONDO:0035499 CELSR1-related late-onset primary lymphedema Orphanet:569816 MONDO:equivalentTo CELSR1-related late-onset primary lymphedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label celsr1-related late-onset primary lymphedema -MONDO:0035500 congenital primary lymphedema of Gordon Orphanet:569821 MONDO:equivalentTo Congenital primary lymphedema of Gordon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital primary lymphedema of gordon -MONDO:0035511 ricin poisoning Orphanet:570470 MONDO:equivalentTo Ricin poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ricin poisoning -MONDO:0035521 blepharophimosis-ptosis-epicanthus inversus syndrome plus Orphanet:572333 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome plus -MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Orphanet:572354 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome type 1 -MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 Orphanet:572361 MONDO:equivalentTo Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-ptosis-epicanthus inversus syndrome type 2 -MONDO:0035529 infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Orphanet:572428 MONDO:equivalentTo Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia -MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum Orphanet:572761 MONDO:equivalentTo DONSON-related microcephaly-short stature-limb abnormalities spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label donson-related microcephaly-short stature-limb abnormalities spectrum -MONDO:0035540 pheochromocytoma-paraganglioma Orphanet:573163 MONDO:equivalentTo Pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pheochromocytoma-paraganglioma -MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency Orphanet:574918 MONDO:equivalentTo Predisposition to severe viral infection due to IRF7 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label predisposition to severe viral infection due to irf7 deficiency -MONDO:0035548 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency Orphanet:574957 MONDO:equivalentTo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency -MONDO:0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy Orphanet:575553 MONDO:equivalentTo Cathepsin A-related arteriopathy-strokes-leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cathepsin a-related arteriopathy-strokes-leukoencephalopathy -MONDO:0035562 acquired human prion disease Orphanet:576360 MONDO:equivalentTo Acquired human prion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired human prion disease -MONDO:0035584 punctate inner choroidopathy Orphanet:580951 MONDO:equivalentTo Punctate inner choroidopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate inner choroidopathy -MONDO:0035586 Cramp-fasciculation syndrome Orphanet:581271 MONDO:equivalentTo Cramp-fasciculation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cramp-fasciculation syndrome -MONDO:0035592 congenital infiltrating lipomatosis of the face Orphanet:583097 MONDO:equivalentTo Congenital infiltrating lipomatosis of the face semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital infiltrating lipomatosis of the face -MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality Orphanet:585877 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -MONDO:0035614 sporadic fatal insomnia Orphanet:586130 MONDO:equivalentTo Sporadic fatal insomnia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporadic fatal insomnia -MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) Orphanet:589534 MONDO:equivalentTo Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) -MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) Orphanet:589595 MONDO:equivalentTo Mixed phenotype acute leukemia with t(v;11q23.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed phenotype acute leukemia with t(v;11q23.3) -MONDO:0035646 congenital-onset Steinert myotonic dystrophy Orphanet:589821 MONDO:equivalentTo Congenital-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital-onset steinert myotonic dystrophy -MONDO:0035647 childhood-onset Steinert myotonic dystrophy Orphanet:589824 MONDO:equivalentTo Childhood-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset steinert myotonic dystrophy -MONDO:0035648 juvenile-onset Steinert myotonic dystrophy Orphanet:589827 MONDO:equivalentTo Juvenile-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile-onset steinert myotonic dystrophy -MONDO:0035649 adult-onset Steinert myotonic dystrophy Orphanet:589830 MONDO:equivalentTo Adult-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset steinert myotonic dystrophy -MONDO:0035650 late-onset Steinert myotonic dystrophy Orphanet:589833 MONDO:equivalentTo Late-onset Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label late-onset steinert myotonic dystrophy -MONDO:0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Orphanet:589856 MONDO:equivalentTo Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome -MONDO:0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum Orphanet:592564 MONDO:equivalentTo GNAO1-related developmental delay-seizures-movement disorder spectrum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gnao1-related developmental delay-seizures-movement disorder spectrum -MONDO:0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Orphanet:592570 MONDO:equivalentTo TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome -MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Orphanet:592850 MONDO:equivalentTo Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder with anti-aqp4 antibodies -MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies Orphanet:592856 MONDO:equivalentTo Neuromyelitis optica spectrum disorder with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder with anti-mog antibodies -MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Orphanet:592869 MONDO:equivalentTo Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuromyelitis optica spectrum disorder without anti-mog and without anti-aqp4 antibodies -MONDO:0035666 acute transverse myelitis with anti-MOG antibodies Orphanet:592873 MONDO:equivalentTo Acute transverse myelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute transverse myelitis with anti-mog antibodies -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies Orphanet:592885 MONDO:equivalentTo Isolated optic neuritis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis without anti-mog antibodies -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies Orphanet:592888 MONDO:equivalentTo Isolated optic neuritis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis with anti-mog antibodies -MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies Orphanet:592894 MONDO:equivalentTo Acute disseminated encephalomyelitis with anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis with anti-mog antibodies -MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies Orphanet:592900 MONDO:equivalentTo Acute disseminated encephalomyelitis without anti-MOG antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute disseminated encephalomyelitis without anti-mog antibodies -MONDO:0035678 Timothy syndrome type 1 Orphanet:595098 MONDO:equivalentTo Timothy syndrome type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome type 1 -MONDO:0035679 Timothy syndrome type 2 Orphanet:595105 MONDO:equivalentTo Timothy syndrome type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label timothy syndrome type 2 -MONDO:0035682 fibrous dysplasia/McCune-Albright syndrome Orphanet:595216 MONDO:equivalentTo Fibrous dysplasia/McCune-Albright syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrous dysplasia/mccune-albright syndrome -MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone Orphanet:596426 MONDO:equivalentTo Syndrome of reduced sensitivity to thyroid hormone semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndrome of reduced sensitivity to thyroid hormone -MONDO:0035694 combined immunodeficiency due to RELA haploinsufficiency Orphanet:596759 MONDO:equivalentTo Combined immunodeficiency due to RELA haploinsufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to rela haploinsufficiency -MONDO:0035696 incomplete septal cirrhosis Orphanet:596941 MONDO:equivalentTo Incomplete septal cirrhosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incomplete septal cirrhosis -MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Orphanet:597743 MONDO:equivalentTo SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label setd2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome -MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome Orphanet:597746 MONDO:equivalentTo Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome -MONDO:0035713 FOXG1 syndrome due to intragenic alteration Orphanet:598164 MONDO:equivalentTo FOXG1 syndrome due to intragenic alteration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foxg1 syndrome due to intragenic alteration -MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant Orphanet:599418 MONDO:equivalentTo Hereditary angioedema with normal C1Inh not related to F12 or PLG variant semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary angioedema with normal c1inh not related to f12 or plg variant -MONDO:0035735 acquired hemophilia A Orphanet:599480 MONDO:equivalentTo Acquired hemophilia A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophilia a -MONDO:0035736 acquired hemophilia B Orphanet:599485 MONDO:equivalentTo Acquired hemophilia B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hemophilia b -MONDO:0035737 acquired factor V deficiency Orphanet:599490 MONDO:equivalentTo Acquired factor V deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor v deficiency -MONDO:0035738 acquired factor VII deficiency Orphanet:599495 MONDO:equivalentTo Acquired factor VII deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor vii deficiency -MONDO:0035740 acquired factor XI deficiency Orphanet:599507 MONDO:equivalentTo Acquired factor XI deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired factor xi deficiency -MONDO:0035742 factor V short isoforms-related bleeding disorder Orphanet:599519 MONDO:equivalentTo Factor V short isoforms-related bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v short isoforms-related bleeding disorder -MONDO:0035743 factor V amsterdam bleeding disorder Orphanet:599579 MONDO:equivalentTo Factor V Amsterdam bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v amsterdam bleeding disorder -MONDO:0035759 factor V atlanta bleeding disorder Orphanet:600194 MONDO:equivalentTo Factor V Atlanta bleeding disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor v atlanta bleeding disorder -MONDO:0035763 idiopathic non-lupus full-house nephropathy Orphanet:567544 MONDO:equivalentTo Idiopathic non-lupus full-house nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic non-lupus full-house nephropathy -MONDO:0035764 idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance Orphanet:567546 MONDO:equivalentTo Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance -MONDO:0035774 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance Orphanet:600663 MONDO:equivalentTo NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance -MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome Orphanet:600668 MONDO:equivalentTo CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ccnk-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome -MONDO:0035776 combined deficiency of factor VII and factor X Orphanet:600691 MONDO:equivalentTo Combined deficiency of factor VII and factor X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined deficiency of factor vii and factor x -MONDO:0035777 parenteral nutrition-associated cholestasis Orphanet:567983 MONDO:equivalentTo Parenteral nutrition-associated cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parenteral nutrition-associated cholestasis -MONDO:0035782 non-syndromic anorectal malformation with rectourethral fistula, bulbar type Orphanet:600966 MONDO:equivalentTo Non-syndromic anorectal malformation with rectourethral fistula, bulbar type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic anorectal malformation with rectourethral fistula, bulbar type -MONDO:0035783 non-syndromic anorectal malformation with rectourethral fistula, prostatic type Orphanet:600975 MONDO:equivalentTo Non-syndromic anorectal malformation with rectourethral fistula, prostatic type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic anorectal malformation with rectourethral fistula, prostatic type -MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Orphanet:603448 MONDO:equivalentTo Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome -MONDO:0035821 isolated female hypospadias Orphanet:603515 MONDO:equivalentTo Isolated female hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated female hypospadias -MONDO:0035823 KLHL7-related Bohring-Opitz-like syndrome Orphanet:603689 MONDO:equivalentTo KLHL7-related Bohring-Opitz-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klhl7-related bohring-opitz-like syndrome -MONDO:0035826 symptomatic form of X-linked centronuclear myopathy in female carriers Orphanet:604680 MONDO:equivalentTo Symptomatic form of X-linked centronuclear myopathy in female carriers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label symptomatic form of x-linked centronuclear myopathy in female carriers -MONDO:0035838 idiopathic multicentric Castleman disease Orphanet:570431 MONDO:equivalentTo Idiopathic multicentric Castleman disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic multicentric castleman disease -MONDO:0035879 granuloma faciale Orphanet:615943 MONDO:equivalentTo Granuloma faciale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma faciale -MONDO:0035882 chronic intervillositis of unknown etiology Orphanet:615970 MONDO:equivalentTo Chronic intervillositis of unknown etiology semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic intervillositis of unknown etiology -MONDO:0035892 Mills syndrome Orphanet:94091 MONDO:equivalentTo Mills syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mills syndrome -MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency Orphanet:583612 MONDO:equivalentTo Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) Orphanet:585909 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) -MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) Orphanet:585918 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(v;11q23.3) -MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) Orphanet:585929 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) -MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy Orphanet:585936 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hyperdiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hyperdiploidy -MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy Orphanet:585942 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with hypodiploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with hypodiploidy -MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) Orphanet:585948 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) -MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome Orphanet:597749 MONDO:equivalentTo KAT6B-related multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kat6b-related multiple congenital anomalies syndrome -MONDO:0036045 euthyroid dysprealbuminemic hyperthyroxinemia Orphanet:597939 MONDO:equivalentTo Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label euthyroid dysprealbuminemic hyperthyroxinemia -MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome Orphanet:611201 MONDO:equivalentTo Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculogastrointestinal-neurodevelopmental syndrome -MONDO:0036192 EN1-related dorsoventral syndrome Orphanet:611223 MONDO:equivalentTo EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label en1-related dorsoventral syndrome -MONDO:0036193 parkinsonism with polyneuropathy Orphanet:611237 MONDO:equivalentTo Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinsonism with polyneuropathy -MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome Orphanet:615938 MONDO:equivalentTo Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic paraparesis-cataracts-speech delay syndrome -MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation Orphanet:615983 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation -MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster Orphanet:615986 MONDO:equivalentTo Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the atad3 gene cluster -MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation Orphanet:99710 MONDO:equivalentTo Punctate acrokeratoderma freckle-like pigmentation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label punctate acrokeratoderma freckle-like pigmentation -MONDO:0037149 HSD10 disease, atypical type Orphanet:85295 MONDO:equivalentTo HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hsd10 disease, atypical type -MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection Orphanet:90066 MONDO:equivalentTo Pneumonia caused by Pseudomonas aeruginosa infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonia caused by pseudomonas aeruginosa infection -MONDO:0037939 porphyria Orphanet:738 MONDO:equivalentTo Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria -MONDO:0042727 sacrococcygeal teratoma Orphanet:494421 MONDO:equivalentTo Sacrococcygeal teratoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sacrococcygeal teratoma -MONDO:0043317 amyopathic dermatomyositis Orphanet:645617 MONDO:equivalentTo Amyopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyopathic dermatomyositis -MONDO:0043330 Mirizzi syndrome Orphanet:521219 MONDO:equivalentTo Mirizzi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mirizzi syndrome -MONDO:0043373 sudden sensorineural hearing loss Orphanet:90059 MONDO:equivalentTo Sudden sensorineural hearing loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sudden sensorineural hearing loss -MONDO:0043459 radiation-induced disorder Orphanet:521132 MONDO:equivalentTo Radiation-induced disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation-induced disorder -MONDO:0043797 spinal cord injury Orphanet:90058 MONDO:equivalentTo Spinal cord injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal cord injury -MONDO:0044200 T-B+ severe combined immunodeficiency Orphanet:317416 MONDO:equivalentTo T-B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-b+ severe combined immunodeficiency -MONDO:0044201 T+ B+ severe combined immunodeficiency Orphanet:397802 MONDO:equivalentTo T+ B+ severe combined immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t+ b+ severe combined immunodeficiency -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency Orphanet:508523 MONDO:equivalentTo Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphenylalaninemia due to dnajc12 deficiency -MONDO:0044332 childhood-onset benign chorea with striatal involvement Orphanet:494541 MONDO:equivalentTo Childhood-onset benign chorea with striatal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset benign chorea with striatal involvement -MONDO:0044348 hemoglobinopathy Orphanet:68364 MONDO:equivalentTo Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy -MONDO:0044355 isolated sternocostoclavicular hyperostosis Orphanet:178311 MONDO:equivalentTo Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated sternocostoclavicular hyperostosis -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome Orphanet:482606 MONDO:equivalentTo X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome -MONDO:0044619 propylthiouracil embryofetopathy Orphanet:485358 MONDO:equivalentTo Propylthiouracil embryofetopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label propylthiouracil embryofetopathy -MONDO:0044621 16p12.1p12.3 triplication syndrome Orphanet:485405 MONDO:equivalentTo 16p12.1p12.3 triplication syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 16p12.1p12.3 triplication syndrome -MONDO:0044622 EMILIN-1-related connective tissue disease Orphanet:485418 MONDO:equivalentTo EMILIN-1-related connective tissue disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label emilin-1-related connective tissue disease -MONDO:0044624 pediatric collagenous gastritis Orphanet:487809 MONDO:equivalentTo Pediatric collagenous gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pediatric collagenous gastritis -MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation Orphanet:487814 MONDO:equivalentTo Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation -MONDO:0044626 female infertility due to oocyte meiotic arrest Orphanet:488191 MONDO:equivalentTo Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility due to oocyte meiotic arrest -MONDO:0044627 acute macular neuroretinopathy Orphanet:488239 MONDO:equivalentTo Acute macular neuroretinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute macular neuroretinopathy -MONDO:0044628 six2-related frontonasal dysplasia Orphanet:488437 MONDO:equivalentTo SIX2-related frontonasal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label six2-related frontonasal dysplasia -MONDO:0044629 congenital amyoplasia Orphanet:488586 MONDO:equivalentTo Congenital amyoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital amyoplasia -MONDO:0044632 extracranial carotid artery aneurysm Orphanet:494424 MONDO:equivalentTo Extracranial carotid artery aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extracranial carotid artery aneurysm -MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis Orphanet:494428 MONDO:equivalentTo Idiopathic pleuroparenchymal fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pleuroparenchymal fibroelastosis -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Orphanet:494439 MONDO:equivalentTo Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome -MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Orphanet:494444 MONDO:equivalentTo DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diaph1-related sensorineural hearing loss-thrombocytopenia syndrome -MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement Orphanet:494526 MONDO:equivalentTo Infantile-onset generalized dyskinesia with orofacial involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infantile-onset generalized dyskinesia with orofacial involvement -MONDO:0044640 Charcot-Marie-Tooth disease type 2T Orphanet:495274 MONDO:equivalentTo Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label charcot-marie-tooth disease type 2t -MONDO:0044641 9q33.3q34.11 microdeletion syndrome Orphanet:495818 MONDO:equivalentTo 9q33.3q34.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 9q33.3q34.11 microdeletion syndrome -MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy Orphanet:495844 MONDO:equivalentTo C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c11orf73-related autosomal recessive hypomyelinating leukodystrophy -MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Orphanet:495875 MONDO:equivalentTo Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome -MONDO:0044644 congenital agenesis of the scrotum Orphanet:495879 MONDO:equivalentTo Congenital agenesis of the scrotum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital agenesis of the scrotum -MONDO:0044645 familial monosomy 7 syndrome Orphanet:495930 MONDO:equivalentTo Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial monosomy 7 syndrome -MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Orphanet:496641 MONDO:equivalentTo Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome -MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Orphanet:496686 MONDO:equivalentTo Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome -MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Orphanet:496689 MONDO:equivalentTo Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome -MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Orphanet:496693 MONDO:equivalentTo Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome -MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Orphanet:496756 MONDO:equivalentTo Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome -MONDO:0044656 epidermolytic nevus Orphanet:497737 MONDO:equivalentTo Epidermolytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolytic nevus -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 Orphanet:497757 MONDO:equivalentTo MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mme-related autosomal dominant charcot marie tooth disease type 2 -MONDO:0044660 menstrual cycle-dependent periodic fever Orphanet:498251 MONDO:equivalentTo Menstrual cycle-dependent periodic fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label menstrual cycle-dependent periodic fever -MONDO:0044663 aquagenic palmoplantar keratoderma Orphanet:498359 MONDO:equivalentTo Aquagenic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aquagenic palmoplantar keratoderma -MONDO:0044675 LRP5-related primary osteoporosis Orphanet:498481 MONDO:equivalentTo LRP5-related primary osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lrp5-related primary osteoporosis -MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Orphanet:498693 MONDO:equivalentTo MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome -MONDO:0044685 autoimmune/inflammatory optic neuropathy Orphanet:499047 MONDO:equivalentTo Autoimmune/inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune/inflammatory optic neuropathy -MONDO:0044687 chronic relapsing inflammatory optic neuropathy Orphanet:499085 MONDO:equivalentTo Chronic relapsing inflammatory optic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic relapsing inflammatory optic neuropathy -MONDO:0044688 isolated optic neuritis Orphanet:499096 MONDO:equivalentTo Isolated optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic neuritis -MONDO:0044689 recurrent idiopathic neuroretinitis Orphanet:499103 MONDO:equivalentTo Recurrent idiopathic neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label recurrent idiopathic neuroretinitis -MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Orphanet:500144 MONDO:equivalentTo Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome -MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation Orphanet:500166 MONDO:equivalentTo SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sin3a-related intellectual disability syndrome due to a point mutation -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Orphanet:500180 MONDO:equivalentTo Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder -MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome Orphanet:500188 MONDO:equivalentTo X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Orphanet:502423 MONDO:equivalentTo Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome -MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome Orphanet:502430 MONDO:equivalentTo Metopic ridging-ptosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metopic ridging-ptosis-facial dysmorphism syndrome -MONDO:0044717 4q25 proximal deletion syndrome Orphanet:502437 MONDO:equivalentTo 4q25 proximal deletion syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 4q25 proximal deletion syndrome -MONDO:0044718 alkaline ceramidase 3 deficiency Orphanet:502444 MONDO:equivalentTo Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alkaline ceramidase 3 deficiency -MONDO:0044719 erythema multiforme major Orphanet:502499 MONDO:equivalentTo Erythema multiforme major semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme major -MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Orphanet:504476 MONDO:equivalentTo Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome -MONDO:0044721 severe combined immunodeficiency due to LAT deficiency Orphanet:504523 MONDO:equivalentTo Severe combined immunodeficiency due to LAT deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe combined immunodeficiency due to lat deficiency -MONDO:0044723 3-methylglutaconic aciduria type 8 Orphanet:505208 MONDO:equivalentTo 3-methylglutaconic aciduria type 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 8 -MONDO:0044724 3-methylglutaconic aciduria type 9 Orphanet:505216 MONDO:equivalentTo 3-methylglutaconic aciduria type 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 3-methylglutaconic aciduria type 9 -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency Orphanet:505227 MONDO:equivalentTo Combined immunodeficiency due to GINS1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined immunodeficiency due to gins1 deficiency -MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Orphanet:505242 MONDO:equivalentTo Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome -MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction Orphanet:506353 MONDO:equivalentTo Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction -MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Orphanet:506784 MONDO:equivalentTo Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome -MONDO:0044742 autosomal recessive epidermolytic ichthyosis Orphanet:512103 MONDO:equivalentTo Autosomal recessive epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive epidermolytic ichthyosis -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma Orphanet:86893 MONDO:equivalentTo Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma Orphanet:529852 MONDO:equivalentTo Combined hepatocellular carcinoma and cholangiocarcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label combined hepatocellular carcinoma and cholangiocarcinoma -MONDO:0044792 large congenital melanocytic nevus Orphanet:626 MONDO:equivalentTo Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label large congenital melanocytic nevus -MONDO:0044877 paraneoplastic cerebellar degeneration Orphanet:623626 MONDO:equivalentTo Paraneoplastic cerebellar degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic cerebellar degeneration -MONDO:0044970 mitochondrial disease Orphanet:68380 MONDO:equivalentTo Mitochondrial disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial disease -MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect Orphanet:527276 MONDO:equivalentTo Encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label encephalopathy due to mitochondrial and peroxisomal fission defect -MONDO:0060582 auditory neuropathy-optic atrophy syndrome Orphanet:542585 MONDO:equivalentTo Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label auditory neuropathy-optic atrophy syndrome -MONDO:0100017 pityriasis rubra pilaris Orphanet:2897 MONDO:equivalentTo Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris -MONDO:0100115 acute flaccid myelitis Orphanet:623801 MONDO:equivalentTo Acute flaccid myelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute flaccid myelitis -MONDO:0100116 Middle East respiratory syndrome Orphanet:576074 MONDO:equivalentTo Middle East respiratory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label middle east respiratory syndrome -MONDO:0100130 adult acute respiratory distress syndrome Orphanet:70578 MONDO:equivalentTo Adult acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult acute respiratory distress syndrome -MONDO:0100135 Dravet syndrome Orphanet:33069 MONDO:equivalentTo Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome -MONDO:0100184 GTP cyclohydrolase I deficiency Orphanet:2102 MONDO:equivalentTo GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100244 paroxysmal nocturnal hemoglobinuria Orphanet:447 MONDO:equivalentTo Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paroxysmal nocturnal hemoglobinuria -MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome Orphanet:280633 MONDO:equivalentTo Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome Orphanet:306661 MONDO:equivalentTo Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome -MONDO:0100289 Goldmann-Favre syndrome Orphanet:53540 MONDO:equivalentTo Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label goldmann-favre syndrome -MONDO:0100309 hereditary ataxia Orphanet:183518 MONDO:equivalentTo Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia -MONDO:0100326 Glanzmann thrombasthenia Orphanet:849 MONDO:equivalentTo Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanzmann thrombasthenia -MONDO:0100339 Friedreich ataxia Orphanet:95 MONDO:equivalentTo Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia -MONDO:0100347 carcinoid syndrome Orphanet:100093 MONDO:equivalentTo Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome -MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome Orphanet:2703 MONDO:equivalentTo Port-wine nevi-mega cisterna magna-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label port-wine nevi-mega cisterna magna-hydrocephalus syndrome -MONDO:0100429 intrahepatic cholestasis of pregnancy Orphanet:69665 MONDO:equivalentTo Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrahepatic cholestasis of pregnancy -MONDO:0100464 acid sphingomyelinase deficiency Orphanet:618899 MONDO:equivalentTo Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acid sphingomyelinase deficiency -MONDO:0100466 butterfly-shaped pigment dystrophy Orphanet:99001 MONDO:equivalentTo Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label butterfly-shaped pigment dystrophy -MONDO:0100491 generalized pustular psoriasis Orphanet:247353 MONDO:equivalentTo Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis -MONDO:0100508 salivary gland type cancer of the breast Orphanet:213557 MONDO:equivalentTo Salivary gland type cancer of the breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland type cancer of the breast -MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form Orphanet:254871 MONDO:equivalentTo Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form -MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Orphanet:2204 MONDO:equivalentTo Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysplastic cortical hyperostosis, kozlowski-tsuruta type -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion Orphanet:500055 MONDO:equivalentTo Hao-Fountain syndrome due to 16p13.2 microdeletion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hao-fountain syndrome due to 16p13.2 microdeletion -MONDO:0600023 idiopathic inflammatory myopathy Orphanet:98482 MONDO:equivalentTo Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy -MONDO:0700042 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Orphanet:319612 MONDO:equivalentTo X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked mendelian susceptibility to mycobacterial diseases due to ikbkg deficiency -MONDO:0800084 primary bone dysplasia with increased bone density Orphanet:93444 MONDO:equivalentTo Primary bone dysplasia with increased bone density semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with increased bone density -MONDO:0800085 dysostosis with predominant craniofacial involvement Orphanet:93453 MONDO:equivalentTo Dysostosis with predominant craniofacial involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with predominant craniofacial involvement -MONDO:0800086 primary bone dysplasia with multiple joint dislocations Orphanet:93441 MONDO:equivalentTo Primary bone dysplasia with multiple joint dislocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with multiple joint dislocations -MONDO:0800087 type 11 collagen-related bone disorder Orphanet:93422 MONDO:equivalentTo Type 11 collagen-related bone disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 11 collagen-related bone disorder -MONDO:0800088 lysosomal storage disease with skeletal involvement Orphanet:93448 MONDO:equivalentTo Lysosomal storage disease with skeletal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lysosomal storage disease with skeletal involvement -MONDO:0800089 primary bone dysplasia with disorganized development of skeletal components Orphanet:93450 MONDO:equivalentTo Primary bone dysplasia with disorganized development of skeletal components semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone dysplasia with disorganized development of skeletal components -MONDO:0800090 ectrodactyly with and without other manifestations Orphanet:498477 MONDO:equivalentTo Ectrodactyly with and without other manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectrodactyly with and without other manifestations -MONDO:0800091 overgrowth or tall stature syndrome with skeletal involvement Orphanet:498448 MONDO:equivalentTo Overgrowth or tall stature syndrome with skeletal involvement semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label overgrowth or tall stature syndrome with skeletal involvement -MONDO:0800093 dysostosis with brachydactyly without extraskeletal manifestations Orphanet:498451 MONDO:equivalentTo Dysostosis with brachydactyly without extraskeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with brachydactyly without extraskeletal manifestations -MONDO:0800094 dysostosis with brachydactyly with extraskeletal manifestations Orphanet:498454 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dysostosis with brachydactyly with extraskeletal manifestations -MONDO:0800095 syndrome with synostosis or other joint formation defect Orphanet:93459 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndrome with synostosis or other joint formation defect -MONDO:0800166 Knobloch syndrome Orphanet:1571 MONDO:equivalentTo Knobloch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knobloch syndrome -MONDO:0800175 cardiogenic shock Orphanet:97292 MONDO:equivalentTo Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock -MONDO:0800198 alopecia universalis Orphanet:701 MONDO:equivalentTo Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis -MONDO:0850001 congenital neuronal ceroid lipofuscinosis Orphanet:168486 MONDO:equivalentTo Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital neuronal ceroid lipofuscinosis -MONDO:0850007 syndromic lacrimal system disorder Orphanet:519274 MONDO:equivalentTo Syndromic lacrimal system disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic lacrimal system disorder -MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations Orphanet:519276 MONDO:equivalentTo Anterior segment developmental abnormality with extraocular manifestations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterior segment developmental abnormality with extraocular manifestations -MONDO:0850009 syndromic microspherophakia Orphanet:519294 MONDO:equivalentTo Syndromic microspherophakia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microspherophakia -MONDO:0850013 twin anemia-polycythemia sequence Orphanet:617294 MONDO:equivalentTo Twin anemia-polycythemia sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin anemia-polycythemia sequence -MONDO:0850014 twin-reversed arterial perfusion sequence Orphanet:617297 MONDO:equivalentTo Twin-reversed arterial perfusion sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label twin-reversed arterial perfusion sequence -MONDO:0850015 selective intrauterine growth restriction Orphanet:617301 MONDO:equivalentTo Selective intrauterine growth restriction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label selective intrauterine growth restriction -MONDO:0850030 complete hemimelia Orphanet:498491 MONDO:equivalentTo Complete hemimelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete hemimelia -MONDO:0850046 amniotic fluid embolism Orphanet:617304 MONDO:equivalentTo Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism -MONDO:0850048 classic eosinophilic pustular folliculitis Orphanet:617408 MONDO:equivalentTo Classic eosinophilic pustular folliculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classic eosinophilic pustular folliculitis -MONDO:0850049 painful legs and moving toes syndrome Orphanet:617440 MONDO:equivalentTo Painful legs and moving toes syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label painful legs and moving toes syndrome -MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome Orphanet:617449 MONDO:equivalentTo Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -MONDO:0850053 F12-associated cold autoinflammatory syndrome Orphanet:617919 MONDO:equivalentTo F12-associated cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label f12-associated cold autoinflammatory syndrome -MONDO:0850054 hemophilia B leyden Orphanet:617930 MONDO:equivalentTo Hemophilia B Leyden semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemophilia b leyden -MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency Orphanet:618891 MONDO:equivalentTo Chronic neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic neurovisceral acid sphingomyelinase deficiency -MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Orphanet:619233 MONDO:equivalentTo Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary persistence of fetal hemoglobin-intellectual disability syndrome -MONDO:0850064 inherited hematologic cancer-predisposing syndrome Orphanet:619340 MONDO:equivalentTo Inherited hematologic cancer-predisposing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited hematologic cancer-predisposing syndrome -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 Orphanet:619363 MONDO:equivalentTo Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal-onset severe multisystemic autoinflammatory disease with increased il18 -MONDO:0850066 SAMD9L-associated autoinflammatory syndrome Orphanet:619367 MONDO:equivalentTo SAMD9L-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label samd9l-associated autoinflammatory syndrome -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration Orphanet:619941 MONDO:equivalentTo Immune deficiency due to impaired neutrophil phagocytosis and migration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune deficiency due to impaired neutrophil phagocytosis and migration -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Orphanet:619948 MONDO:equivalentTo Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency Orphanet:619953 MONDO:equivalentTo Familial hyperinflammatory lymphoproliferative immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial hyperinflammatory lymphoproliferative immunodeficiency -MONDO:0850070 CADINS disease Orphanet:619972 MONDO:equivalentTo CADINS disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cadins disease -MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Orphanet:619979 MONDO:equivalentTo Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -MONDO:0850072 non-syndromic unisutural craniosynostosis Orphanet:620096 MONDO:equivalentTo Non-syndromic unisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisutural craniosynostosis -MONDO:0850073 non-syndromic unicoronal craniosynostosis Orphanet:620102 MONDO:equivalentTo Non-syndromic unicoronal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal craniosynostosis -MONDO:0850074 non-syndromic unilambdoid craniosynostosis Orphanet:620113 MONDO:equivalentTo Non-syndromic unilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unilambdoid craniosynostosis -MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis Orphanet:620139 MONDO:equivalentTo Non-syndromic unifrontosphenoidal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unifrontosphenoidal craniosynostosis -MONDO:0850076 non-syndromic unisquamosal craniosynostosis Orphanet:620146 MONDO:equivalentTo Non-syndromic unisquamosal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unisquamosal craniosynostosis -MONDO:0850077 non-syndromic multisutural craniosynostosis Orphanet:620152 MONDO:equivalentTo Non-syndromic multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic multisutural craniosynostosis -MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis Orphanet:620158 MONDO:equivalentTo Non-syndromic non-specific multisutural craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic non-specific multisutural craniosynostosis -MONDO:0850079 non-syndromic bilambdoid craniosynostosis Orphanet:620178 MONDO:equivalentTo Non-syndromic bilambdoid craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bilambdoid craniosynostosis -MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis Orphanet:620186 MONDO:equivalentTo Non-syndromic unicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic unicoronal and sagittal craniosynostosis -MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis Orphanet:620192 MONDO:equivalentTo Non-syndromic metopic and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic metopic and sagittal craniosynostosis -MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis Orphanet:620198 MONDO:equivalentTo Non-syndromic bicoronal and metopic craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and metopic craniosynostosis -MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis Orphanet:620205 MONDO:equivalentTo Non-syndromic bicoronal and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic bicoronal and sagittal craniosynostosis -MONDO:0850084 non-syndromic pansynostosis Orphanet:620212 MONDO:equivalentTo Non-syndromic pansynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-syndromic pansynostosis -MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome Orphanet:620363 MONDO:equivalentTo Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability Orphanet:620368 MONDO:equivalentTo EGF-related primary hypomagnesemia with intellectual disability semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label egf-related primary hypomagnesemia with intellectual disability -MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Orphanet:620371 MONDO:equivalentTo Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gitelman-like kidney tubulopathy due to mitochondrial dna mutation -MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome Orphanet:621758 MONDO:equivalentTo Fibrosis-neurodegeneration-cerebral angiomatosis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibrosis-neurodegeneration-cerebral angiomatosis syndrome -MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection Orphanet:622925 MONDO:equivalentTo X-linked severe syndromic thoracic aortic aneurysm and dissection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked severe syndromic thoracic aortic aneurysm and dissection -MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia Orphanet:622934 MONDO:equivalentTo SBDS-related severe neonatal spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sbds-related severe neonatal spondylometaphyseal dysplasia -MONDO:0850097 autoimmune limbic encephalitis Orphanet:623615 MONDO:equivalentTo Autoimmune limbic encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune limbic encephalitis -MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia Orphanet:623695 MONDO:equivalentTo MIR140-related spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mir140-related spondyloepiphyseal dysplasia -MONDO:0850100 body integrity dysphoria Orphanet:623789 MONDO:equivalentTo Body integrity dysphoria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label body integrity dysphoria -MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies Orphanet:624166 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis with characteristic antibodies -MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies Orphanet:624178 MONDO:equivalentTo Non-specific autoimmune supratentorial encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune supratentorial encephalitis without characteristic antibodies -MONDO:0850104 paraneoplastic isolated brainstem encephalitis Orphanet:624190 MONDO:equivalentTo Paraneoplastic isolated brainstem encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paraneoplastic isolated brainstem encephalitis -MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies Orphanet:624199 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis with characteristic antibodies -MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies Orphanet:624216 MONDO:equivalentTo Non-specific autoimmune brainstem encephalitis without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune brainstem encephalitis without characteristic antibodies -MONDO:0850107 postinfectious cerebellitis Orphanet:624244 MONDO:equivalentTo Postinfectious cerebellitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postinfectious cerebellitis -MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies Orphanet:624259 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia with characteristic antibodies -MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies Orphanet:624268 MONDO:equivalentTo Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-specific autoimmune cerebellar ataxia without characteristic antibodies -MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome Orphanet:99704 MONDO:equivalentTo Early-onset obesity-hyperphagia-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label early-onset obesity-hyperphagia-severe developmental delay syndrome -MONDO:0858989 autosomal recessive spastic paraplegia type 84 Orphanet:631079 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 84 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 84 -MONDO:0858990 autosomal recessive spastic paraplegia type 85 Orphanet:631082 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 85 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 85 -MONDO:0858991 autosomal recessive spastic paraplegia type 86 Orphanet:631085 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 86 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 86 -MONDO:0858992 autosomal recessive spastic paraplegia type 87 Orphanet:631088 MONDO:equivalentTo Autosomal recessive spastic paraplegia type 87 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive spastic paraplegia type 87 -MONDO:0858997 cancer of unknown primary site Orphanet:631251 MONDO:equivalentTo Cancer of unknown primary site semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cancer of unknown primary site -MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome Orphanet:632603 MONDO:equivalentTo Mesomelic dysplasia-digital anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesomelic dysplasia-digital anomalies-intellectual disability syndrome -MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome Orphanet:633004 MONDO:equivalentTo KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kdm3b-related intellectual disability-facial dysmorphism-short stature syndrome -MONDO:0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome Orphanet:633014 MONDO:equivalentTo SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related developmental delay-intellectual disability-sensorineural deafness syndrome -MONDO:0859001 CPE-related Prader-Willi-like syndrome Orphanet:633028 MONDO:equivalentTo CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cpe-related prader-willi-like syndrome -MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome Orphanet:633035 MONDO:equivalentTo Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual disability-early-onset cataract-microcephaly syndrome -MONDO:0859003 PAICS deficiency Orphanet:633099 MONDO:equivalentTo PAICS deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paics deficiency -MONDO:0859004 invasive scopulariopsis infection Orphanet:633124 MONDO:equivalentTo Invasive scopulariopsis infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label invasive scopulariopsis infection -MONDO:0859005 preaxial digit brachydactyly-webbed fingers Orphanet:633211 MONDO:equivalentTo Preaxial digit brachydactyly-webbed fingers semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label preaxial digit brachydactyly-webbed fingers -MONDO:0859006 proximal femoral focal deficiency Orphanet:633228 MONDO:equivalentTo Proximal femoral focal deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal femoral focal deficiency -MONDO:0859007 mosaic Legius syndrome Orphanet:634511 MONDO:equivalentTo Mosaic Legius syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic legius syndrome -MONDO:0859008 neurofibromatosis/schwannomatosis Orphanet:634518 MONDO:equivalentTo Neurofibromatosis/schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurofibromatosis/schwannomatosis -MONDO:0859565 atrioventricular septal defect Orphanet:98722 MONDO:equivalentTo Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0859692 immune-mediated cerebellar ataxia Orphanet:623638 MONDO:equivalentTo Immune-mediated cerebellar ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immune-mediated cerebellar ataxia -MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome Orphanet:633021 MONDO:equivalentTo SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome -MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome Orphanet:633024 MONDO:equivalentTo SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label slc12a2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome -MONDO:0859763 mosaic neurofibromatosis type 1 Orphanet:634461 MONDO:equivalentTo Mosaic neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic neurofibromatosis type 1 -MONDO:0859764 mosaic NF2-related schwannomatosis Orphanet:634475 MONDO:equivalentTo Mosaic NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic nf2-related schwannomatosis -MONDO:0859765 mosaic schwannomatosis Orphanet:634492 MONDO:equivalentTo Mosaic schwannomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic schwannomatosis -MONDO:0957018 autoinflammatory syndrome of childhood Orphanet:319719 MONDO:equivalentTo Autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoinflammatory syndrome of childhood -MONDO:0957048 isolated macular dystrophy Orphanet:519302 MONDO:equivalentTo Isolated macular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated macular dystrophy -MONDO:0957111 neurological muscular channelopathy due to a genetic sodium channel defect Orphanet:98738 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic sodium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic sodium channel defect -MONDO:0957112 neurological muscular channelopathy due to a genetic chloride channel defect Orphanet:98739 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic chloride channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic chloride channel defect -MONDO:0957113 neurological muscular channelopathy due to a genetic calcium channel defect Orphanet:98740 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic calcium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic calcium channel defect -MONDO:0957114 neurological muscular channelopathy due to a genetic potassium channel defect Orphanet:98741 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic potassium channel defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic potassium channel defect -MONDO:0957115 neurological muscular channelopathy due to a genetic ryanodine receptor defect Orphanet:98742 MONDO:equivalentTo Neurological muscular channelopathy due to a genetic ryanodine receptor defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurological muscular channelopathy due to a genetic ryanodine receptor defect -MONDO:0957337 isolated chorioretinal dystrophy Orphanet:519300 MONDO:equivalentTo Isolated chorioretinal dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated chorioretinal dystrophy -MONDO:0957341 secondary early-onset glaucoma Orphanet:519331 MONDO:equivalentTo Secondary early-onset glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary early-onset glaucoma -MONDO:0957403 periodic fever syndrome of childhood Orphanet:324939 MONDO:equivalentTo Periodic fever syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic fever syndrome of childhood -MONDO:0957404 pyogenic autoinflammatory syndrome of childhood Orphanet:324942 MONDO:equivalentTo Pyogenic autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic autoinflammatory syndrome of childhood -MONDO:0957405 granulomatous autoinflammatory syndrome of childhood Orphanet:324950 MONDO:equivalentTo Granulomatous autoinflammatory syndrome of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granulomatous autoinflammatory syndrome of childhood -MONDO:0957408 type 1 interferonopathy of childhood Orphanet:481671 MONDO:equivalentTo Type 1 interferonopathy of childhood semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 interferonopathy of childhood -MONDO:0957421 borna virus encephalitis Orphanet:637051 MONDO:equivalentTo Borna virus encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna virus encephalitis -MONDO:0957423 immunotherapy induced hypophysitis Orphanet:641350 MONDO:equivalentTo Immunotherapy induced hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label immunotherapy induced hypophysitis -MONDO:0957426 autosomal recessive hyper-IgE syndrome Orphanet:641368 MONDO:equivalentTo Autosomal recessive hyper-IgE syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive hyper-ige syndrome -MONDO:0957427 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) Orphanet:641372 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) -MONDO:0957428 B-lymphoblastic leukemia/lymphoma with t(17;19) Orphanet:641375 MONDO:equivalentTo B-lymphoblastic leukemia/lymphoma with t(17;19) semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label b-lymphoblastic leukemia/lymphoma with t(17;19) -MONDO:0957430 childhood-onset schizophrenia Orphanet:641496 MONDO:equivalentTo Childhood-onset schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood-onset schizophrenia -MONDO:0957431 endogenous Cushing syndrome Orphanet:641613 MONDO:equivalentTo Endogenous Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endogenous cushing syndrome -MONDO:0957432 neonatal compartment syndrome Orphanet:641829 MONDO:equivalentTo Neonatal compartment syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal compartment syndrome -MONDO:0957433 primary pulmonary vein stenosis Orphanet:642071 MONDO:equivalentTo Primary pulmonary vein stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary vein stenosis -MONDO:0957442 autosomal recessive ataxia due to PEX16 deficiency Orphanet:642954 MONDO:equivalentTo Autosomal recessive ataxia due to PEX16 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex16 deficiency -MONDO:0957443 autosomal recessive ataxia due to PEX2 deficiency Orphanet:642965 MONDO:equivalentTo Autosomal recessive ataxia due to PEX2 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive ataxia due to pex2 deficiency -MONDO:0957451 non-terminal myelocystocele Orphanet:645340 MONDO:equivalentTo Non-terminal myelocystocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-terminal myelocystocele -MONDO:0957452 segmental arterial mediolysis Orphanet:645350 MONDO:equivalentTo Segmental arterial mediolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label segmental arterial mediolysis -MONDO:0957453 true myelomeningocele Orphanet:645383 MONDO:equivalentTo True myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label true myelomeningocele -MONDO:0957454 hemi-myelomeningocele Orphanet:645388 MONDO:equivalentTo Hemi-myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemi-myelomeningocele -MONDO:0957456 classical dermatomyositis Orphanet:645613 MONDO:equivalentTo Classical dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label classical dermatomyositis -MONDO:0957458 adermatopathic dermatomyositis Orphanet:645626 MONDO:equivalentTo Adermatopathic dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adermatopathic dermatomyositis -MONDO:0957459 congenital esophageal stenosis Orphanet:645749 MONDO:equivalentTo Congenital esophageal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital esophageal stenosis -MONDO:0957460 spontaneous intestinal perforation Orphanet:645793 MONDO:equivalentTo Spontaneous intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous intestinal perforation -MONDO:0957461 primary tuberculous lymphadenitis Orphanet:645807 MONDO:equivalentTo Primary tuberculous lymphadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tuberculous lymphadenitis -MONDO:0957462 primary pulmonary tuberculosis Orphanet:645814 MONDO:equivalentTo Primary pulmonary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary tuberculosis -MONDO:0957463 primary bone and joint tuberculosis Orphanet:645822 MONDO:equivalentTo Primary bone and joint tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary bone and joint tuberculosis -MONDO:0957464 primary cutaneous tuberculosis Orphanet:645849 MONDO:equivalentTo Primary cutaneous tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous tuberculosis -MONDO:0957465 multifocal tuberculosis Orphanet:645854 MONDO:equivalentTo Multifocal tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multifocal tuberculosis -MONDO:0957466 primary tuberculosis of the digestive system Orphanet:645859 MONDO:equivalentTo Primary tuberculosis of the digestive system semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary tuberculosis of the digestive system -MONDO:0957467 primary genito-urinary tuberculosis Orphanet:645874 MONDO:equivalentTo Primary genito-urinary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary genito-urinary tuberculosis -MONDO:0957473 craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome Orphanet:647681 MONDO:equivalentTo Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome -MONDO:0957476 isolated persistent urogenital sinus Orphanet:647794 MONDO:equivalentTo Isolated persistent urogenital sinus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated persistent urogenital sinus -MONDO:0957477 MYT1L-related developmental delay-intellectual disability-obesity syndrome Orphanet:647799 MONDO:equivalentTo MYT1L-related developmental delay-intellectual disability-obesity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myt1l-related developmental delay-intellectual disability-obesity syndrome -MONDO:0957481 idiopathic pregnancy-associated osteoporosis Orphanet:647823 MONDO:equivalentTo Idiopathic pregnancy-associated osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic pregnancy-associated osteoporosis -MONDO:0957487 idiopathic catatonia Orphanet:648919 MONDO:equivalentTo Idiopathic catatonia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic catatonia -MONDO:0957556 congenital pulmonary vein atresia Orphanet:99126 MONDO:equivalentTo Congenital pulmonary vein atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary vein atresia -MONDO:8000010 antiphospholipid syndrome Orphanet:80 MONDO:equivalentTo Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Orphanet:653880 MONDO:equivalentTo Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency +MONDO:0041186 Rowell syndrome Orphanet:658584 MONDO:equivalentTo Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome diff --git a/src/ontology/metadata/doid.metadata.sssom.yml b/src/ontology/metadata/doid.metadata.sssom.yml index 86741b98..4397d026 100644 --- a/src/ontology/metadata/doid.metadata.sssom.yml +++ b/src/ontology/metadata/doid.metadata.sssom.yml @@ -6,32 +6,31 @@ license: https://creativecommons.org/licenses/by/4.0/ creator_id: https://orcid.org/0000-0002-2906-7319 curie_map: ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ - MedDRA: https://identifiers.org/meddra/ + # MedDRA: https://identifiers.org/meddra/ MESH: https://meshb.nlm.nih.gov/record/ui?ui= OMIM: https://omim.org/entry/ OMIMPS: https://www.omim.org/phenotypicSeries/PS - Orphanet: http://www.orpha.net/ORDO/Orphanet_ + # Orphanet: http://www.orpha.net/ORDO/Orphanet_ UMLS: http://linkedlifedata.com/resource/umls/id/ DOID: http://purl.obolibrary.org/obo/DOID_ EFO: http://www.ebi.ac.uk/efo/EFO_ ENVO: http://purl.obolibrary.org/obo/ENVO_ - GARD: "https://bioregistry.io/reference/gard:" + GARD: "https://bioregistry.io/gard:" ICD10CM: https://icd.codes/icd10cm/ ICD9CM: https://icd.codes/icd9cm/ - ICD9CM_2005: https://icd.codes/icd9cm/ - ICDO: "https://bioregistry.io/reference/gard:" + # ICD9CM_2005: https://icd.codes/icd9cm/ + ICDO: "https://bioregistry.io/icdo:" KEGG: http://www.kegg.jp/entry/ MEDDRA: https://identifiers.org/meddra/ NCI: http://purl.obolibrary.org/obo/NCIT_ - OMIT: http://purl.obolibrary.org/obo/ENVO_ + OMIT: http://purl.obolibrary.org/obo/OMIT_ ORDO: http://www.orpha.net/ORDO/Orphanet_ SNOMEDCT_US_2020_03_01: http://identifiers.org/snomedct/ - SNOMEDCT_US_2020_09_01: http://identifiers.org/snomedct/ - SNOMEDCT_US_2021_07_31: http://identifiers.org/snomedct/ - SNOMEDCT_US_2021_09_01: http://identifiers.org/snomedct/ - SNOMEDCT_US_2022_07_31: http://identifiers.org/snomedct/ - SNOMEDCT_US_2022_10_31: http://identifiers.org/snomedct/ - SNOMEDCT_US_2023_02_28: http://identifiers.org/snomedct/ + # SNOMEDCT_US_2020_09_01: http://identifiers.org/snomedct/ + # SNOMEDCT_US_2021_07_31: http://identifiers.org/snomedct/ + # SNOMEDCT_US_2021_09_01: http://identifiers.org/snomedct/ + # SNOMEDCT_US_2022_07_31: http://identifiers.org/snomedct/ + # SNOMEDCT_US_2022_10_31: http://identifiers.org/snomedct/ + # SNOMEDCT_US_2023_02_28: http://identifiers.org/snomedct/ SYMP: http://purl.obolibrary.org/obo/SYMP_ - UMLS_CUI: http://linkedlifedata.com/resource/umls/id/ - + # UMLS_CUI: http://linkedlifedata.com/resource/umls/id/ diff --git a/src/ontology/metadata/mondo.sssom.config.yml b/src/ontology/metadata/mondo.sssom.config.yml index 6875e9cf..173ac8fe 100644 --- a/src/ontology/metadata/mondo.sssom.config.yml +++ b/src/ontology/metadata/mondo.sssom.config.yml @@ -5,27 +5,27 @@ curie_map: DOID: http://purl.obolibrary.org/obo/DOID_ EFO: http://www.ebi.ac.uk/efo/EFO_ HGNC: "http://identifiers.org/hgnc/" - HGNC__2: "https://identifiers.org/hgnc:" - HGNC__3: "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:" - HGNC_symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ + # HGNC__2: "https://identifiers.org/hgnc:" + # HGNC__3: "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:" + # HGNC_symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ HP: http://purl.obolibrary.org/obo/HP_ - SCTID: http://identifiers.org/snomedct/ - SCTID__2: http://snomed.info/id/ + # SCTID: http://identifiers.org/snomedct/ + # SCTID__2: http://snomed.info/id/ OMIM: https://omim.org/entry/ - OMIM__2: http://identifiers.org/omim/ - OMIM__3: http://purl.obolibrary.org/obo/OMIM_ - OMIM__4: http://omim.org/entry/ + # OMIM__2: http://identifiers.org/omim/ + # OMIM__3: http://purl.obolibrary.org/obo/OMIM_ + # OMIM__4: http://omim.org/entry/ MESH: http://identifiers.org/mesh/ Orphanet: http://www.orpha.net/ORDO/Orphanet_ - Orphanet__2: https://www.orpha.net/ORDO/Orphanet_ - Orphanet__3: http://purl.obolibrary.org/obo/Orphanet_ + # Orphanet__2: https://www.orpha.net/ORDO/Orphanet_ + # Orphanet__3: http://purl.obolibrary.org/obo/Orphanet_ oboInOwl: http://www.geneontology.org/formats/oboInOwl# NCBITaxon: http://purl.obolibrary.org/obo/NCBITaxon_ skos: http://www.w3.org/2004/02/skos/core# ICD10CM: http://purl.bioontology.org/ontology/ICD10CM/ - ICD10CM__2: https://icd.codes/icd10cm/ + #ICD10CM__2: https://icd.codes/icd10cm/ ICD10WHO: https://icd.who.int/browse10/2019/en#/ - ICD10WHO__2: http://apps.who.int/classifications/icd10/browse/2010/en#/ + #ICD10WHO__2: http://apps.who.int/classifications/icd10/browse/2010/en#/ OMIMPS: https://omim.org/phenotypicSeries/PS MEDGEN: http://identifiers.org/medgen/ MedDRA: http://identifiers.org/meddra/ @@ -34,9 +34,9 @@ curie_map: semapv: https://w3id.org/semapv/vocab/ rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# sssom: https://w3id.org/sssom/ - oio: http://www.geneontology.org/formats/oboInOwl# + # oio: http://www.geneontology.org/formats/oboInOwl# GTR: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GTR/" - NCI: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/NCI/" + # NCI: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/NCI/" NIFSTD: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/NIFSTD/" PO_GIT: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/PO_GIT/" CALOHA: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/CALOHA/" @@ -45,7 +45,7 @@ curie_map: IMDRF: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/IMDRF/" LOINC: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/LOINC/" MEDDRA: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/MEDDRA/" - ncithesaurus: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ncithesaurus/" + # ncithesaurus: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ncithesaurus/" COHD: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/COHD/" ONCOTREE: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ONCOTREE/" ICD9: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD9/" @@ -63,17 +63,18 @@ curie_map: Wikipedia: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/Wikipedia/" Fyler: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/Fyler/" EPCC: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/EPCC/" - UMLS_CUI: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/UMLS_CUI/" + # UMLS_CUI: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/UMLS_CUI/" KUPO: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/KUPO/" OMOP: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/OMOP/" - ICD10: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD10/" + # ICD10: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD10/" ICD10EXP: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/ICD10EXP/" DERMO: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/DERMO/" GARD: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GARD/" - SNOMEDCT_US: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/SNOMEDCT_US/" - MSH: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/MSH/" + # SNOMEDCT_US: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/SNOMEDCT_US/" + # MSH: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/MSH/" GC_ID: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/GC_ID/" - SNOMEDCT_2010_1_31: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/SNOMEDCT_2010_1_31/" + # SNOMEDCT_2010_1_31: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/SNOMEDCT_2010_1_31/" + OMIA: "http://purl.obolibrary.org/obo/mondo/mappings/unknown_prefix/OMIA/" extended_prefix_map: - prefix: MONDO diff --git a/src/ontology/metadata/omim.metadata.sssom.yml b/src/ontology/metadata/omim.metadata.sssom.yml index a9d0cf19..1593c5a8 100644 --- a/src/ontology/metadata/omim.metadata.sssom.yml +++ b/src/ontology/metadata/omim.metadata.sssom.yml @@ -11,6 +11,6 @@ curie_map: OMIM: https://omim.org/entry/ Orphanet: http://www.orpha.net/ORDO/Orphanet_ UMLS: http://linkedlifedata.com/resource/umls/id/ - HGNC: 'https://identifiers.org/hgnc:' + #HGNC: 'https://identifiers.org/hgnc:' hgnc.symbol: 'https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/' - ncbigene: https://www.ncbi.nlm.nih.gov/gene/ + ncbigene: https://www.ncbi.nlm.nih.gov/gene/ \ No newline at end of file diff --git a/src/ontology/metadata/ordo.metadata.sssom.yml b/src/ontology/metadata/ordo.metadata.sssom.yml index c1179410..8edd4adc 100644 --- a/src/ontology/metadata/ordo.metadata.sssom.yml +++ b/src/ontology/metadata/ordo.metadata.sssom.yml @@ -8,7 +8,7 @@ curie_map: ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ MedDRA: https://identifiers.org/meddra/ MESH: http://identifiers.org/mesh/ - MeSH: http://id.nlm.nih.gov/mesh/ + #MeSH: http://id.nlm.nih.gov/mesh/ OMIM: https://omim.org/entry/ Orphanet: http://www.orpha.net/ORDO/Orphanet_ - UMLS: http://linkedlifedata.com/resource/umls/id/ + UMLS: http://linkedlifedata.com/resource/umls/id/ \ No newline at end of file diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index cef1c646..cee1daf8 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -39,6 +39,7 @@ dependencies: @rm -f .template.db @rm -f .template.db.tmp @rm -f $*-relation-graph.tsv.gz +.PRECIOUS: %.db #################################### ### Relevant signature ############# @@ -341,7 +342,7 @@ documentation: j2 $(ALL_DOCS) unmapped-terms-docs mapped-deprecated-terms-docs s build-mondo-ingest: $(MAKE) refresh-imports exclusions-all slurp-all mappings matches \ mapped-deprecated-terms mapping-progress-report \ - recreate-unmapped-components sync documentation + recreate-unmapped-components documentation $(MAKE) prepare_release .PHONY: build-mondo-ingest-no-imports @@ -429,8 +430,7 @@ tmp/merged.owl: tmp/mondo.owl mondo-ingest.owl tmp/mondo.sssom.ttl $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv: $(SCRIPTSDIR)/match-mondo-sources-all-lexical.py tmp/merged.db $(MAPPINGSDIR)/rejected-mappings.tsv rm -f $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv rm -f $(MAPPINGSDIR)/mondo-sources-all-lexical-2.sssom.tsv - pip install bioregistry - python $< run tmp/merged.db \ + python $(SCRIPTSDIR)/match-mondo-sources-all-lexical.py run tmp/merged.db \ -c metadata/mondo.sssom.config.yml \ -r config/mondo-match-rules.yaml \ --rejects $(MAPPINGSDIR)/rejected-mappings.tsv \ @@ -443,7 +443,7 @@ lexical-matches: $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv ################################### lexmatch/README.md: $(SCRIPTSDIR)/lexmatch-sssom-compare.py $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv $(ALL_EXCLUSION_FILES) find lexmatch/ -name "*.tsv" -type f -delete - python $< extract_unmapped_matches $(ALL_COMPONENT_IDS) \ + python $(SCRIPTSDIR)/lexmatch-sssom-compare.py extract_unmapped_matches $(ALL_COMPONENT_IDS) \ --matches $(MAPPINGSDIR)/mondo-sources-all-lexical.sssom.tsv \ --output-dir lexmatch \ --summary $@ \ diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index e785ff7c..e6816eb2 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -1695,6 +1695,24 @@ + + + + + + + + + + + + + + + + + + @@ -2149,8 +2167,11 @@ + + + @@ -2161,6 +2182,38 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -3475,6 +3528,22 @@ + + + + + + + + + + + + + + + + @@ -9548,7 +9617,6 @@ - @@ -11609,6 +11677,7 @@ + @@ -11667,6 +11736,7 @@ + @@ -11749,7 +11819,6 @@ - @@ -12035,7 +12104,6 @@ - diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 26619a4b..d71be43b 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -8824,6 +8824,7 @@ + @@ -29928,8 +29929,116 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -29960,7 +30069,6 @@ - @@ -30177,7 +30285,6 @@ - @@ -30754,7 +30861,6 @@ - @@ -31384,7 +31490,7 @@ - + @@ -31557,6 +31663,7 @@ + diff --git a/src/ontology/reports/component_signature-ordo.tsv b/src/ontology/reports/component_signature-ordo.tsv index 354299d4..244fa0e8 100644 --- a/src/ontology/reports/component_signature-ordo.tsv +++ b/src/ontology/reports/component_signature-ordo.tsv @@ -569,6 +569,7 @@ + @@ -921,6 +922,7 @@ + @@ -988,6 +990,7 @@ + @@ -1336,6 +1339,7 @@ + @@ -2509,6 +2513,7 @@ + @@ -2754,6 +2759,7 @@ + @@ -3032,6 +3038,7 @@ + @@ -3635,6 +3642,7 @@ + @@ -3845,6 +3853,7 @@ + @@ -6834,113 +6843,9 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -8143,9 +8048,6 @@ - - - @@ -8717,8 +8619,6 @@ - - @@ -9115,7 +9015,6 @@ - @@ -9461,7 +9360,6 @@ - @@ -9753,8 +9651,6 @@ - - @@ -9869,7 +9765,6 @@ - @@ -10126,7 +10021,6 @@ - @@ -10304,17 +10198,8 @@ - - - - - - - - - @@ -10664,7 +10549,6 @@ - @@ -11412,8 +11296,6 @@ - - @@ -11517,7 +11399,6 @@ - @@ -11577,7 +11458,6 @@ - @@ -11612,7 +11492,6 @@ - @@ -11694,8 +11573,6 @@ - - @@ -11813,8 +11690,6 @@ - - @@ -11939,16 +11814,12 @@ - - - - @@ -12237,7 +12108,19 @@ + + + + + + + + + + + + @@ -12247,13 +12130,36 @@ + + + + + + + + + + + + + + + + + + + + + + + @@ -12262,6 +12168,24 @@ + + + + + + + + + + + + + + + + + + @@ -12593,7 +12517,6 @@ - diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv index 6bcab24e..08ae5f75 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv @@ -2,6 +2,8 @@ term_id term_label 1_in_mirror_tsv 2_in_component_tsv 3_in_mondo_xrefs in1_notIn DOID:6809 obsolete vaginal tubular adenoma True False True True DOID:10919 obsolete transsexualism True False True True DOID:0050068 obsolete pestis minor True False True True +DOID:1634 obsolete breast papillomatosis True False True True +DOID:5209 obsolete benign struma ovarii True False True True DOID:955 obsolete benign neurilemmoma True False True True DOID:7922 obsolete benign mediastinal neurilemmoma True False True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True False True True diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv index c1c9f233..232caa18 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -7 0.0005 +9 0.0006 diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv index 6c5dd541..e2b7bfb6 100644 --- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv @@ -1794,6 +1794,7 @@ DOID:5133 MONDO:excludeNonDisease DOID:5184 MONDO:excludeNonDisease DOID:5185 MONDO:excludeNonDisease DOID:5205 MONDO:excludeNonDisease +DOID:5209 MONDO:excludeNonDisease DOID:5215 MONDO:excludeNonDisease DOID:5226 MONDO:excludeNonDisease DOID:5227 MONDO:excludeNonDisease diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv index a0b66b42..c7c22324 100644 --- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv @@ -1,4 +1,5 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0002546 DOID:955 MONDO:equivalentObsolete +MONDO:0003333 DOID:5209 MONDO:equivalentObsolete MONDO:0004398 DOID:7922 MONDO:equivalentObsolete diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index c2ea206a..797d2ece 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,5 +1,23 @@ subject_id subject_label is_mapped is_excluded is_deprecated DOID:0050640 anauxetic dysplasia 1 False False False +DOID:0060912 craniosynostosis 7 False False False +DOID:0060913 proteosome-associated autoinflammatory syndrome False False False +DOID:0060914 proteosome-associated autoinflammatory syndrome 2 False False False +DOID:0060915 proteosome-associated autoinflammatory syndrome 4 False False False +DOID:0060916 proteasome-associated autoinflammatory syndrome 3 False False False +DOID:0060917 facioscapulohumeral muscular dystrophy 3 False False False +DOID:0060918 facioscapulohumeral muscular dystrophy 4 False False False +DOID:0060919 proteosome-associated autoinflammatory syndrome 5 False False False +DOID:0060920 otosclerosis 1 False False False +DOID:0060921 otosclerosis 2 False False False +DOID:0060922 otosclerosis 3 False False False +DOID:0060923 otosclerosis 4 False False False +DOID:0060924 otosclerosis 5 False False False +DOID:0060925 otosclerosis 7 False False False +DOID:0060926 otosclerosis 8 False False False +DOID:0060927 otosclerosis 10 False False False +DOID:0060928 otosclerosis 11 False False False +DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 False False False DOID:0070257 congenital disorder of glycosylation type IIe False False False DOID:0070364 bradyopsia 2 False False False DOID:0070366 nevoid basal cell carcinoma syndrome 2 False False False @@ -55,8 +73,11 @@ DOID:0070466 carpal tunnel syndrome 1 False False False DOID:0070467 carpal tunnel syndrome 2 False False False DOID:0070468 Yoon-Bellen neurodevelopmental syndrome False False False DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum False False False +DOID:0070470 chromosome 1p36.33 duplication syndrome False False False DOID:0070471 early-onset epilepsy 2 False False False DOID:0070472 early-onset epilepsy 3 False False False +DOID:0070473 Zaki syndrome False False False +DOID:0070474 childhood-onset neurodegeneration with brain atrophy False False False DOID:0070475 renal medullary carcinoma False False False DOID:0070476 diphthamide deficiency syndrome False False False DOID:0070477 diphthamide deficiency syndrome 1 False False False @@ -67,6 +88,38 @@ DOID:0070481 schwannomatosis 2 False False False DOID:0070482 spinal neurofibromatosis False False False DOID:0070483 Watson syndrome False False False DOID:0070484 Legius syndrome False False False +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 False False False +DOID:0070486 Parkinson's disease 25 False False False +DOID:0070487 dopamine transporter deficiency syndrome False False False +DOID:0070488 atypical dopamine transporter deficiency syndrome False False False +DOID:0070489 classic dopamine transporter deficiency syndrome False False False +DOID:0070490 infantile parkinsonism-dystonia 2 False False False +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 False False False +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 False False False +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 False False False +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 False False False +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 False False False +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 False False False +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 False False False +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 False False False +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 False False False +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 False False False +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 False False False +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 False False False +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 False False False +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 False False False +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 False False False +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 False False False +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 False False False +DOID:0070508 metabolic dysfunction and alcohol associated liver disease False False False +DOID:0070509 Schinzel Giedion syndrome False False False +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses False False False +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy False False False +DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay False False False +DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities False False False +DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies False False False +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb False False False +DOID:0070516 Mitchell syndrome False False False DOID:0080400 orofacial cleft 7 False False False DOID:0080578 digenic disease False False False DOID:0080602 benign teratoma False False False @@ -124,6 +177,22 @@ DOID:0081379 amyotrophic lateral sclerosis type 25 False False False DOID:0081380 amyotrophic lateral sclerosis type 26 False False False DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 False False False DOID:0081382 amyotrophic lateral sclerosis type 28 False False False +DOID:0081383 ataxia-oculomotor apraxia type 4 False False False +DOID:0081384 ataxia-telangiectasia-like disorder-1 False False False +DOID:0081385 ataxia-telangiectasia-like disorder-2 False False False +DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias False False False +DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities False False False +DOID:0081388 primary progressive aphasia False False False +DOID:0081389 logopenic progressive aphasia False False False +DOID:0081390 progressive non-fluent aphasia False False False +DOID:0081391 semantic dementia False False False +DOID:0081392 corticobasal degeneration syndrome False False False +DOID:0081393 organophosphate-induced delayed polyneuropathy False False False +DOID:0081394 Caroli syndrome False False False +DOID:0081395 Harel-Yoon syndrome False False False +DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome False False False +DOID:0081397 Vissers-Bodmer syndrome False False False +DOID:0081398 holoprosencephaly 12 False False False DOID:0111503 Li-Fraumeni syndrome 1 False False False DOID:0112103 Sotos syndrome 1 False False False DOID:2938 Epstein-Barr virus infectious disease False False False @@ -1301,7 +1370,6 @@ DOID:1599 obsolete single episode moderate major depression False True True DOID:1620 obsolete breast fibroepithelial tumor False True True DOID:1624 obsolete breast soft tissue tumor False True True DOID:163 obsolete mucoepidermoid tumor False True True -DOID:1634 obsolete breast papillomatosis False True True DOID:164 obsolete cystic, mucinous, and serous neoplasm False True True DOID:1661 obsolete malignant intracranial germ cell neoplasm False True True DOID:1665 obsolete central nervous system embryonal cancer False True True @@ -2929,7 +2997,7 @@ DOID:0050546 congenital adrenal insufficiency True False False DOID:0050547 familial medullary thyroid carcinoma True False False DOID:0050548 hereditary sensory neuropathy True False False DOID:0050549 Saldino-Noonan syndrome True False False -DOID:0050553 JMP syndrome True False False +DOID:0050553 proteasome-associated autoinflammatory syndrome 1 True False False DOID:0050554 X-linked sideroblastic anemia with ataxia True False False DOID:0050557 congenital muscular dystrophy True False False DOID:0050558 Ullrich congenital muscular dystrophy True False False @@ -3725,7 +3793,7 @@ DOID:0060394 chromosome 15q13.3 microdeletion syndrome True False False DOID:0060395 chromosome 15q24 deletion syndrome True False False DOID:0060396 chromosome 15q25 deletion syndrome True False False DOID:0060397 chromosome 15q26-qter deletion syndrome True False False -DOID:0060398 chromosome 16p11.2 deletion syndrome True False False +DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb True False False DOID:0060399 chromosome 16p12.1 deletion syndrome True False False DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome True False False DOID:0060401 chromosome 16q22 deletion syndrome True False False @@ -4706,7 +4774,7 @@ DOID:0080204 renal hypoplasia True False False DOID:0080205 CAKUT True False False DOID:0080206 CAKUT1 True False False DOID:0080207 CAKUT2 True False False -DOID:0080208 non-alcoholic fatty liver disease True False False +DOID:0080208 metabolic dysfunction-associated steatotic liver disease True False False DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay True False False DOID:0080210 primary mediastinal B-cell lymphoma True False False DOID:0080211 nodal marginal zone lymphoma True False False @@ -5033,7 +5101,7 @@ DOID:0080543 hyperprolinemia type 2 True False False DOID:0080544 hyper IgM syndrome True False False DOID:0080545 hyper IgE syndrome True False False DOID:0080546 non-alcoholic fatty liver True False False -DOID:0080547 non-alcoholic steatohepatitis True False False +DOID:0080547 metabolic dysfunction-associated steatohepatitis True False False DOID:0080548 Noonan syndrome with multiple lentigines 1 True False False DOID:0080549 Noonan syndrome with multiple lentigines 2 True False False DOID:0080550 Noonan syndrome with multiple lentigines 3 True False False @@ -6682,7 +6750,7 @@ DOID:0110813 hereditary spastic paraplegia 62 True False False DOID:0110814 hereditary spastic paraplegia 63 True False False DOID:0110815 hereditary spastic paraplegia 64 True False False DOID:0110816 hereditary spastic paraplegia 7 True False False -DOID:0110817 hereditary spastic paraplegia 72 True False False +DOID:0110817 hereditary spastic paraplegia 72A True False False DOID:0110818 hereditary spastic paraplegia 73 True False False DOID:0110819 hereditary spastic paraplegia 74 True False False DOID:0110820 hereditary spastic paraplegia 75 True False False @@ -7041,11 +7109,11 @@ DOID:0111183 familial hemiplegic migraine 3 True False False DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 True False False DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 True False False DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 True False False -DOID:0111187 distal muscular dystrophy with anterior tibial onset True False False +DOID:0111187 distal myopathy with anterior tibial onset True False False DOID:0111188 myofibrillar myopathy 9 True False False -DOID:0111189 distal muscular dystrophy 3 True False False -DOID:0111190 distal muscular dystrophy 4 True False False -DOID:0111191 distal muscular dystrophy Tateyama type True False False +DOID:0111189 distal myopathy 3 True False False +DOID:0111190 distal myopathy 4 True False False +DOID:0111191 distal myopathy Tateyama type True False False DOID:0111192 facioscapulohumeral muscular dystrophy 1 True False False DOID:0111193 facioscapulohumeral muscular dystrophy 2 True False False DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy True False False @@ -7061,7 +7129,7 @@ DOID:0111203 distal hereditary motor neuronopathy type 5 True False False DOID:0111204 distal hereditary motor neuronopathy type 5A True False False DOID:0111205 distal hereditary motor neuronopathy type 5B True False False DOID:0111206 distal hereditary motor neuronopathy type 2 True False False -DOID:0111207 distal hereditary motor neuropathy type 2B True False False +DOID:0111207 distal hereditary motor neuronopathy type 2B True False False DOID:0111208 distal hereditary motor neuronopathy type 2A True False False DOID:0111209 distal hereditary motor neuronopathy type 2C True False False DOID:0111210 distal hereditary motor neuronopathy type 2D True False False @@ -10589,7 +10657,7 @@ DOID:2981 kidney papillary necrosis True False False DOID:2982 perinephritis True False False DOID:2983 anuria True False False DOID:2986 IgA glomerulonephritis True False False -DOID:2987 familial Mediterranean fever True False False +DOID:2987 familial mediterranean fever True False False DOID:2988 antiphospholipid syndrome True False False DOID:299 adenocarcinoma True False False DOID:2992 prostate neuroendocrine neoplasm True False False @@ -11803,7 +11871,6 @@ DOID:5200 urinary tract obstruction True False False DOID:5204 fructose-1,6-bisphosphatase deficiency True False False DOID:5207 monodermal teratoma True False False DOID:5208 malignant struma ovarii True False False -DOID:5209 benign struma ovarii True False False DOID:5212 congenital disorder of glycosylation True False False DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy True False False DOID:5214 demyelinating polyneuropathy True False False @@ -13566,7 +13633,7 @@ DOID:9439 chronic cholangitis True False False DOID:9442 cervical Mullerian papilloma True False False DOID:9445 cervix squamous papilloma True False False DOID:9446 cholangitis True False False -DOID:9452 fatty liver disease True False False +DOID:9452 steatotic liver disease True False False DOID:9455 lipid storage disease True False False DOID:9459 isthmus cancer True False False DOID:946 dientamoebiasis True False False @@ -13859,6 +13926,8 @@ DOID:0050068 obsolete pestis minor True True True DOID:0050867 obsolete Jensen syndrome True True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True True True DOID:10919 obsolete transsexualism True True True +DOID:1634 obsolete breast papillomatosis True True True +DOID:5209 obsolete benign struma ovarii True True True DOID:6809 obsolete vaginal tubular adenoma True True True DOID:7922 obsolete benign mediastinal neurilemmoma True True True DOID:955 obsolete benign neurilemmoma True True True diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt index f896d9f3..45635dbc 100644 --- a/src/ontology/reports/doid_term_exclusions.txt +++ b/src/ontology/reports/doid_term_exclusions.txt @@ -1799,6 +1799,7 @@ DOID:5133 DOID:5184 DOID:5185 DOID:5205 +DOID:5209 DOID:5215 DOID:5226 DOID:5227 diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 1a676fe3..d15374e9 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,19 +1,27 @@ subject_id subject_label DOID:0081250 CIC-rearranged sarcoma DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy +DOID:0081394 Caroli syndrome DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma DOID:2938 Epstein-Barr virus infectious disease +DOID:0081395 Harel-Yoon syndrome DOID:0081370 LADD syndrome DOID:0070484 Legius syndrome DOID:0111503 Li-Fraumeni syndrome 1 +DOID:0070516 Mitchell syndrome DOID:0070439 North Carolina macular dystrophy +DOID:0070486 Parkinson's disease 25 +DOID:0070509 Schinzel Giedion syndrome DOID:0112103 Sotos syndrome 1 DOID:0080817 T2-high asthma DOID:0080818 T2-low asthma +DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias +DOID:0081397 Vissers-Bodmer syndrome DOID:0070483 Watson syndrome DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma DOID:0070468 Yoon-Bellen neurodevelopmental syndrome +DOID:0070473 Zaki syndrome DOID:0080816 adult-onset severe asthma DOID:0081378 amyotrophic lateral sclerosis type 24 DOID:0081379 amyotrophic lateral sclerosis type 25 @@ -23,12 +31,20 @@ DOID:0050640 anauxetic dysplasia 1 DOID:0081256 astrocytoma, IDH-mutant, grade 2 DOID:0081257 astrocytoma, IDH-mutant, grade 3 DOID:0080877 astrocytoma, IDH-mutant, grade 4 +DOID:0081383 ataxia-oculomotor apraxia type 4 +DOID:0081384 ataxia-telangiectasia-like disorder-1 +DOID:0081385 ataxia-telangiectasia-like disorder-2 +DOID:0070488 atypical dopamine transporter deficiency syndrome DOID:0080602 benign teratoma DOID:0070364 bradyopsia 2 DOID:0070466 carpal tunnel syndrome 1 DOID:0070467 carpal tunnel syndrome 2 +DOID:0070474 childhood-onset neurodegeneration with brain atrophy +DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb +DOID:0070470 chromosome 1p36.33 duplication syndrome DOID:0080748 chronic inducible urticaria DOID:0080749 chronic spontaneous urticaria +DOID:0070489 classic dopamine transporter deficiency syndrome DOID:0070424 combined oxidative phosphorylation deficiency 44 DOID:0070425 combined oxidative phosphorylation deficiency 52 DOID:0070426 combined oxidative phosphorylation deficiency 53 @@ -42,6 +58,8 @@ DOID:0081352 congenital myopathy 20 DOID:0081353 congenital myopathy 21 DOID:0081354 congenital myopathy 22A DOID:0081355 congenital myopathy 22B +DOID:0081392 corticobasal degeneration syndrome +DOID:0060912 craniosynostosis 7 DOID:0070376 developmental and epileptic encephalopathy 31B DOID:0080763 diffuse gastric cancer DOID:0080880 diffuse glioma, H3 G34 mutant @@ -51,10 +69,13 @@ DOID:0070476 diphthamide deficiency syndrome DOID:0070477 diphthamide deficiency syndrome 1 DOID:0070478 diphthamide deficiency syndrome 2 DOID:0081373 disabling pansclerotic morphea +DOID:0070487 dopamine transporter deficiency syndrome DOID:0070445 early-onset dystonia and/or spastic paraplegia DOID:0070471 early-onset epilepsy 2 DOID:0070472 early-onset epilepsy 3 DOID:0081359 epidermolytic hyperkeratosis 2 +DOID:0060917 facioscapulohumeral muscular dystrophy 3 +DOID:0060918 facioscapulohumeral muscular dystrophy 4 DOID:0080712 gene duplication disease DOID:0070454 hereditary spastic paraplegia 70 DOID:0070455 hereditary spastic paraplegia 79A @@ -63,6 +84,7 @@ DOID:0070457 hereditary spastic paraplegia 88 DOID:0070458 hereditary spastic paraplegia 89 DOID:0070459 hereditary spastic paraplegia 90A DOID:0070460 hereditary spastic paraplegia 90B +DOID:0081398 holoprosencephaly 12 DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 @@ -70,6 +92,8 @@ DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 +DOID:0070490 infantile parkinsonism-dystonia 2 +DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses DOID:0080812 intermittent asthma DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 DOID:4667 kyphosis @@ -80,16 +104,36 @@ DOID:0070372 leukoencephalopathy with vanishing white matter 3 DOID:0070371 leukoencephalopathy with vanishing white matter 4 DOID:0070367 leukoencephalopathy with vanishing white matter 5 DOID:0080894 lipofibromatosis-like neural tumor +DOID:0081389 logopenic progressive aphasia DOID:0080704 medulloblastoma SHH activated and TP53 mutant DOID:0080705 medulloblastoma SHH activated and TP53 wild-type DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 +DOID:0070508 metabolic dysfunction and alcohol associated liver disease DOID:0070446 mitochondrial DNA depletion syndrome 16 DOID:0070447 mitochondrial DNA depletion syndrome 16B DOID:0070448 mitochondrial DNA depletion syndrome 17 DOID:0070449 mitochondrial DNA depletion syndrome 18 DOID:0070450 mitochondrial DNA depletion syndrome 19 DOID:0070451 mitochondrial DNA depletion syndrome 20 +DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 +DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 +DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 +DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 +DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 +DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 +DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 +DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 +DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 +DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 +DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 +DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 +DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 +DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 +DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 +DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 +DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 +DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 @@ -97,30 +141,55 @@ DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 DOID:0080823 near-fatal asthma DOID:0081374 nemaline myopathy 5B DOID:0081375 nemaline myopathy 5C +DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction +DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities +DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum +DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay DOID:0070444 neurodevelopmental disorder with language delay and seizures +DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DOID:0070366 nevoid basal cell carcinoma syndrome 2 DOID:0080826 nocturnal asthma +DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 +DOID:0081393 organophosphate-induced delayed polyneuropathy DOID:0080400 orofacial cleft 7 +DOID:0060920 otosclerosis 1 +DOID:0060927 otosclerosis 10 +DOID:0060928 otosclerosis 11 +DOID:0060921 otosclerosis 2 +DOID:0060922 otosclerosis 3 +DOID:0060923 otosclerosis 4 +DOID:0060924 otosclerosis 5 +DOID:0060925 otosclerosis 7 +DOID:0060926 otosclerosis 8 DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 DOID:0080813 persistent mild asthma DOID:0080814 persistent moderate asthma DOID:0080824 persistent severe asthma DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant +DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy DOID:0081254 posterior fossa group A ependymoma DOID:0081255 posterior fossa group B ependymoma DOID:9373 postural kyphosis +DOID:0081388 primary progressive aphasia DOID:0070396 progressive leukoencephalopathy with ovarian failure +DOID:0081390 progressive non-fluent aphasia +DOID:0060916 proteasome-associated autoinflammatory syndrome 3 +DOID:0060913 proteosome-associated autoinflammatory syndrome +DOID:0060914 proteosome-associated autoinflammatory syndrome 2 +DOID:0060915 proteosome-associated autoinflammatory syndrome 4 +DOID:0060919 proteosome-associated autoinflammatory syndrome 5 DOID:0070475 renal medullary carcinoma DOID:0070438 retinal macular dystrophy DOID:0070440 retinal macular dystrophy 3 DOID:0070441 retinal macular dystrophy 4 DOID:0070480 schwannomatosis 1 DOID:0070481 schwannomatosis 2 +DOID:0081391 semantic dementia DOID:0080897 solitary fibrous tumor/hemangiopericytoma DOID:0081376 sorbitol dehydrogenase deficiency with peripheral neuropathy DOID:0070482 spinal neurofibromatosis diff --git a/src/ontology/reports/icd10cm_mapping_status.tsv b/src/ontology/reports/icd10cm_mapping_status.tsv index 1c7ecc6f..1eb5da76 100644 --- a/src/ontology/reports/icd10cm_mapping_status.tsv +++ b/src/ontology/reports/icd10cm_mapping_status.tsv @@ -4399,7 +4399,6 @@ ICD10CM:E80.6 Other disorders of bilirubin metabolism False False False ICD10CM:E80.7 Disorder of bilirubin metabolism, unspecified False False False ICD10CM:E83.0 Disorders of copper metabolism False False False ICD10CM:E83.00 Disorder of copper metabolism, unspecified False False False -ICD10CM:E83.01 Wilson's disease False False False ICD10CM:E83.09 Other disorders of copper metabolism False False False ICD10CM:E83.10 Disorder of iron metabolism, unspecified False False False ICD10CM:E83.11 Hemochromatosis False False False @@ -95101,6 +95100,7 @@ ICD10CM:E79.1 Lesch-Nyhan syndrome True False False ICD10CM:E80.4 Gilbert syndrome True False False ICD10CM:E80.5 Crigler-Najjar syndrome True False False ICD10CM:E83 Disorders of mineral metabolism True False False +ICD10CM:E83.01 Wilson's disease True False False ICD10CM:E83.1 Disorders of iron metabolism True False False ICD10CM:E83.110 Hereditary hemochromatosis True False False ICD10CM:E83.3 Disorders of phosphorus metabolism and phosphatases True False False diff --git a/src/ontology/reports/icd10cm_unmapped_terms.tsv b/src/ontology/reports/icd10cm_unmapped_terms.tsv index 7245d57a..619423c1 100644 --- a/src/ontology/reports/icd10cm_unmapped_terms.tsv +++ b/src/ontology/reports/icd10cm_unmapped_terms.tsv @@ -79160,7 +79160,6 @@ ICD10CM:A37.90 Whooping cough, unspecified species without pneumonia ICD10CM:P96.3 Wide cranial sutures of newborn ICD10CM:E85.82 Wild-type transthyretin-related (ATTR) amyloidosis ICD10CM:Q93.82 Williams syndrome -ICD10CM:E83.01 Wilson's disease ICD10CM:P27.0 Wilson-Mikity syndrome ICD10CM:P96.2 Withdrawal symptoms from therapeutic use of drugs in newborn ICD10CM:M21.33 Wrist drop (acquired) diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index f9f6430d..dbff8500 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -408,6 +408,7 @@ + @@ -483,6 +484,7 @@ + @@ -2431,6 +2433,24 @@ + + + + + + + + + + + + + + + + + + @@ -2901,8 +2921,11 @@ + + + @@ -2913,6 +2936,38 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -4249,6 +4304,22 @@ + + + + + + + + + + + + + + + + @@ -14653,6 +14724,7 @@ + @@ -14792,6 +14864,7 @@ + @@ -14938,6 +15011,7 @@ + @@ -14952,6 +15026,7 @@ + @@ -14970,6 +15045,7 @@ + @@ -15362,6 +15438,8 @@ + + @@ -15392,7 +15470,6 @@ - @@ -15456,12 +15533,14 @@ + + @@ -15481,12 +15560,10 @@ - - @@ -15573,6 +15650,7 @@ + @@ -15604,7 +15682,6 @@ - @@ -15843,6 +15920,7 @@ + @@ -15957,8 +16035,6 @@ - - @@ -16204,7 +16280,6 @@ - diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 3a60a08b..29c70667 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -746,6 +746,7 @@ + @@ -981,6 +982,7 @@ + @@ -1437,6 +1439,7 @@ + @@ -1450,6 +1453,7 @@ + @@ -2775,6 +2779,7 @@ + @@ -2837,6 +2842,7 @@ + @@ -5420,6 +5426,7 @@ + @@ -5586,6 +5593,7 @@ + @@ -5937,6 +5945,7 @@ + @@ -6159,6 +6168,7 @@ + @@ -6536,6 +6546,7 @@ + @@ -7502,6 +7513,7 @@ + @@ -8164,6 +8176,7 @@ + @@ -8497,13 +8510,16 @@ + + + @@ -8511,7 +8527,9 @@ + + @@ -8522,6 +8540,7 @@ + @@ -8957,6 +8976,7 @@ + @@ -9346,6 +9366,9 @@ + + + @@ -9597,6 +9620,7 @@ + @@ -9969,6 +9993,7 @@ + @@ -10738,8 +10763,10 @@ + + @@ -11000,6 +11027,9 @@ + + + @@ -11067,6 +11097,7 @@ + @@ -15328,6 +15359,7 @@ + @@ -16377,10 +16409,22 @@ + + + + + + + + + + + + @@ -42103,6 +42147,11 @@ + + + + + @@ -42358,8 +42407,29 @@ + + + + + + + + + + + + + + + + + + + + + @@ -42635,8 +42705,40 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -43512,6 +43614,718 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -43714,12 +44528,28 @@ + + + + + + + + + + + + + + + + @@ -43898,6 +44728,7 @@ + @@ -43939,6 +44770,7 @@ + @@ -43961,6 +44793,7 @@ + @@ -43987,6 +44820,7 @@ + @@ -44006,11 +44840,15 @@ + + + + @@ -44020,6 +44858,7 @@ + @@ -44028,6 +44867,7 @@ + @@ -44062,6 +44902,7 @@ + @@ -44076,6 +44917,7 @@ + @@ -44106,6 +44948,7 @@ + @@ -44134,12 +44977,12 @@ - + @@ -44181,6 +45024,7 @@ + @@ -44207,6 +45051,7 @@ + @@ -44226,6 +45071,7 @@ + @@ -44260,7 +45106,6 @@ - @@ -44341,11 +45186,14 @@ + + + @@ -44375,7 +45223,9 @@ + + @@ -44456,9 +45306,12 @@ + + + @@ -44483,6 +45336,8 @@ + + @@ -44502,10 +45357,13 @@ + + + @@ -44531,6 +45389,8 @@ + + @@ -44540,8 +45400,12 @@ + + + + @@ -44569,6 +45433,12 @@ + + + + + + @@ -44602,6 +45472,7 @@ + @@ -44611,14 +45482,21 @@ + + + + + + + @@ -44637,6 +45515,7 @@ + @@ -44678,6 +45557,7 @@ + @@ -44738,11 +45618,13 @@ + + @@ -44760,10 +45642,12 @@ + + @@ -44781,6 +45665,7 @@ + @@ -44832,6 +45717,11 @@ + + + + + @@ -44845,9 +45735,11 @@ + + @@ -44873,6 +45765,7 @@ + @@ -44924,7 +45817,11 @@ + + + + @@ -45015,6 +45912,7 @@ + @@ -45045,6 +45943,7 @@ + @@ -45176,6 +46075,10 @@ + + + + @@ -45190,6 +46093,9 @@ + + + @@ -45236,15 +46142,26 @@ + + + + + + + + + + + @@ -45255,10 +46172,12 @@ + + @@ -45266,30 +46185,53 @@ + + + + + + + + + + + + + + + + + + + + + + + @@ -45298,38 +46240,79 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -45367,6 +46350,7 @@ + @@ -45374,6 +46358,7 @@ + @@ -45565,6 +46550,7 @@ + @@ -46057,6 +47043,7 @@ + @@ -47922,6 +48909,7 @@ + @@ -51237,6 +52225,7 @@ + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 3ce22c1d..08e5b1c2 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -7380,6 +7380,7 @@ + @@ -28484,8 +28485,116 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -28877,7 +28986,7 @@ - + @@ -29050,6 +29159,7 @@ + diff --git a/src/ontology/reports/mirror_signature-ordo.tsv b/src/ontology/reports/mirror_signature-ordo.tsv index a0057558..6dcf314a 100644 --- a/src/ontology/reports/mirror_signature-ordo.tsv +++ b/src/ontology/reports/mirror_signature-ordo.tsv @@ -982,7 +982,6 @@ - @@ -5037,126 +5036,16 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - @@ -6554,12 +6443,7 @@ - - - - - @@ -7330,8 +7214,6 @@ - - @@ -7567,8 +7449,6 @@ - - @@ -7796,7 +7676,6 @@ - @@ -7827,7 +7706,6 @@ - @@ -7986,7 +7864,6 @@ - @@ -8276,7 +8153,6 @@ - @@ -8658,8 +8534,6 @@ - - @@ -8685,7 +8559,6 @@ - @@ -8830,7 +8703,6 @@ - @@ -9236,7 +9108,6 @@ - @@ -9557,14 +9428,6 @@ - - - - - - - - @@ -9575,7 +9438,6 @@ - @@ -9644,7 +9506,6 @@ - @@ -9675,7 +9536,6 @@ - @@ -9725,6 +9585,7 @@ + @@ -10129,7 +9990,6 @@ - @@ -10244,7 +10104,6 @@ - @@ -10481,6 +10340,7 @@ + @@ -10489,7 +10349,6 @@ - @@ -10961,6 +10820,7 @@ + @@ -11196,7 +11056,6 @@ - @@ -11487,8 +11346,6 @@ - - @@ -11629,7 +11486,6 @@ - @@ -11723,7 +11579,6 @@ - @@ -11762,7 +11617,6 @@ - @@ -11887,8 +11741,6 @@ - - @@ -12034,6 +11886,7 @@ + @@ -12051,8 +11904,6 @@ - - @@ -12294,17 +12145,14 @@ - - + - - @@ -12688,8 +12536,21 @@ + + + + + + + + + + + + + @@ -12698,13 +12559,37 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -12713,6 +12598,24 @@ + + + + + + + + + + + + + + + + + + @@ -13044,7 +12947,6 @@ - diff --git a/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv index 6eac5c8a..bc7b6e42 100644 --- a/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ncit_mapped_deprecated_terms.robot.template.tsv @@ -1,5 +1,6 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0002063 NCIT:C6977 MONDO:equivalentObsolete MONDO:0003998 NCIT:C40257 MONDO:equivalentObsolete MONDO:0004204 NCIT:C4462 MONDO:equivalentObsolete MONDO:0004419 NCIT:C39822 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ncit_mapping_status.tsv b/src/ontology/reports/ncit_mapping_status.tsv index 9e87459d..2fdf5020 100644 --- a/src/ontology/reports/ncit_mapping_status.tsv +++ b/src/ontology/reports/ncit_mapping_status.tsv @@ -2733,7 +2733,6 @@ NCIT:C158964 AHL Amyloidosis False False False NCIT:C159205 Kidney Angiosarcoma False False False NCIT:C159206 Kidney Rhabdomyosarcoma False False False NCIT:C159208 Kidney Ewing Sarcoma False False False -NCIT:C159209 Kidney Leiomyoma False False False NCIT:C159211 Kidney Hemangioma False False False NCIT:C159214 Kidney Lymphangioma False False False NCIT:C159221 Kidney Schwannoma False False False @@ -5019,7 +5018,6 @@ NCIT:C189240 Localized Soft Tissue Sarcoma False False False NCIT:C189241 Kidney Carcinoma Molecular Subtypes False False False NCIT:C189242 Childhood Renal Cell Carcinoma with MiT Translocations False False False NCIT:C189244 Childhood Kidney Carcinoma False False False -NCIT:C189247 SMARCB1-Deficient Kidney Medullary Carcinoma False False False NCIT:C189248 Childhood SMARCB1-Deficient Kidney Medullary Carcinoma False False False NCIT:C189249 ALK-Rearranged Renal Cell Carcinoma False False False NCIT:C189250 Childhood ALK-Rearranged Renal Cell Carcinoma False False False @@ -16653,7 +16651,6 @@ NCIT:C6961 Chordoid Glioma of the Third Ventricle False False True NCIT:C6962 Paraganglioma of the Filum Terminale False False True NCIT:C6972 Mesenchymal Non-Meningothelial Tumor of the Central Nervous System False False True NCIT:C6976 Breast Papilloma False False True -NCIT:C6977 Breast Papillomatosis False False True NCIT:C6986 Breast Myoepithelioma False False True NCIT:C6988 Oligoastrocytoma False False True NCIT:C6989 Subependymal Astrocytoma False False True @@ -180161,6 +180158,7 @@ NCIT:C158786 Canine Nephroblastoma True False False NCIT:C158962 AH Amyloidosis True False False NCIT:C158963 AL Amyloidosis True False False NCIT:C158965 Light and Heavy Chain Deposition Disease True False False +NCIT:C159209 Kidney Leiomyoma True False False NCIT:C161006 Canine Thyroid Gland Medullary Carcinoma True False False NCIT:C162473 Canine Transmissible Venereal Tumor True False False NCIT:C162775 Acute Myeloid Leukemia with Trisomy 8 True False False @@ -180191,6 +180189,7 @@ NCIT:C181158 Jejunal Adenocarcinoma True False False NCIT:C181658 Feline Synovial Cell Sarcoma True False False NCIT:C185639 Canine Oral Melanoma True False False NCIT:C186279 Canine Cutaneous T-Cell Lymphoma True False False +NCIT:C189247 SMARCB1-Deficient Kidney Medullary Carcinoma True False False NCIT:C25765 Secondary Acute Myeloid Leukemia True False False NCIT:C26323 Hematologic and Lymphocytic Disorder True False False NCIT:C26684 Radiation-Induced Disorder True False False @@ -183686,6 +183685,7 @@ NCIT:C39822 Infiltrating Bladder Urothelial Carcinoma, Lymphoma-Like Variant Tru NCIT:C40257 Vaginal Tubular Adenoma True False True NCIT:C4462 Skin Squamous Papilloma True False True NCIT:C4743 Benign Basal Cell Neoplasm True False True +NCIT:C6977 Breast Papillomatosis True False True NCIT:C7150 Indolent Multiple Myeloma True False True NCIT:C7167 Myelodysplastic Syndrome with Excess Blasts-1 True False True NCIT:C75007 Marfan Syndrome Type II True False True diff --git a/src/ontology/reports/ncit_unmapped_terms.tsv b/src/ontology/reports/ncit_unmapped_terms.tsv index 17b27c4e..13e8191e 100644 --- a/src/ontology/reports/ncit_unmapped_terms.tsv +++ b/src/ontology/reports/ncit_unmapped_terms.tsv @@ -3891,7 +3891,6 @@ NCIT:C159227 Kidney Germ Cell Tumor NCIT:C191394 Kidney Hemangioblastoma NCIT:C159211 Kidney Hemangioma NCIT:C159225 Kidney Large Cell Neuroendocrine Carcinoma -NCIT:C159209 Kidney Leiomyoma NCIT:C159214 Kidney Lymphangioma NCIT:C63532 Kidney Lymphoma NCIT:C158046 Kidney Mixed Epithelial and Stromal Tumor Family @@ -8746,7 +8745,6 @@ NCIT:C168746 SAMD9-Associated Hereditary Myelodysplastic Syndrome NCIT:C168747 SAMD9L-Associated Hereditary Myelodysplastic Syndrome NCIT:C21880 SJL Disease of the Mouse Hematologic System NCIT:C186703 SMARCB1 Schwannomatosis 1 -NCIT:C189247 SMARCB1-Deficient Kidney Medullary Carcinoma NCIT:C187445 ST2 Diffuse Large B-Cell Lymphoma NCIT:C129927 Sacral Chordoma NCIT:C168674 Sacral Spine Neoplasm diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index ba96f913..14005138 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17389,6 +17389,79 @@ OMIM:620563 MONDO:excludeGene OMIM:620564 MONDO:excludeGene OMIM:620566 MONDO:excludeGene OMIM:620567 MONDO:excludeGene +OMIM:620571 MONDO:excludeGene +OMIM:620572 MONDO:excludeGene +OMIM:620573 MONDO:excludeGene +OMIM:620574 MONDO:excludeGene +OMIM:620575 MONDO:excludeGene +OMIM:620577 MONDO:excludeGene +OMIM:620578 MONDO:excludeGene +OMIM:620579 MONDO:excludeGene +OMIM:620580 MONDO:excludeGene +OMIM:620581 MONDO:excludeGene +OMIM:620582 MONDO:excludeGene +OMIM:620584 MONDO:excludeGene +OMIM:620585 MONDO:excludeGene +OMIM:620586 MONDO:excludeGene +OMIM:620587 MONDO:excludeGene +OMIM:620588 MONDO:excludeGene +OMIM:620589 MONDO:excludeGene +OMIM:620590 MONDO:excludeGene +OMIM:620591 MONDO:excludeGene +OMIM:620592 MONDO:excludeGene +OMIM:620593 MONDO:excludeGene +OMIM:620594 MONDO:excludeGene +OMIM:620595 MONDO:excludeGene +OMIM:620596 MONDO:excludeGene +OMIM:620597 MONDO:excludeGene +OMIM:620598 MONDO:excludeGene +OMIM:620599 MONDO:excludeGene +OMIM:620600 MONDO:excludeGene +OMIM:620604 MONDO:excludeGene +OMIM:620605 MONDO:excludeGene +OMIM:620608 MONDO:excludeGene +OMIM:620611 MONDO:excludeGene +OMIM:620612 MONDO:excludeGene +OMIM:620613 MONDO:excludeGene +OMIM:620614 MONDO:excludeGene +OMIM:620615 MONDO:excludeGene +OMIM:620616 MONDO:excludeGene +OMIM:620617 MONDO:excludeGene +OMIM:620618 MONDO:excludeGene +OMIM:620619 MONDO:excludeGene +OMIM:620620 MONDO:excludeGene +OMIM:620621 MONDO:excludeGene +OMIM:620622 MONDO:excludeGene +OMIM:620623 MONDO:excludeGene +OMIM:620624 MONDO:excludeGene +OMIM:620625 MONDO:excludeGene +OMIM:620626 MONDO:excludeGene +OMIM:620630 MONDO:excludeGene +OMIM:620631 MONDO:excludeGene +OMIM:620633 MONDO:excludeGene +OMIM:620634 MONDO:excludeGene +OMIM:620637 MONDO:excludeGene +OMIM:620638 MONDO:excludeGene +OMIM:620640 MONDO:excludeGene +OMIM:620648 MONDO:excludeGene +OMIM:620649 MONDO:excludeGene +OMIM:620650 MONDO:excludeGene +OMIM:620652 MONDO:excludeGene +OMIM:620656 MONDO:excludeGene +OMIM:620660 MONDO:excludeGene +OMIM:620661 MONDO:excludeGene +OMIM:620664 MONDO:excludeGene +OMIM:620665 MONDO:excludeGene +OMIM:620667 MONDO:excludeGene +OMIM:620671 MONDO:excludeGene +OMIM:620672 MONDO:excludeGene +OMIM:620673 MONDO:excludeGene +OMIM:620676 MONDO:excludeGene +OMIM:620677 MONDO:excludeGene +OMIM:620678 MONDO:excludeGene +OMIM:620682 MONDO:excludeGene +OMIM:620684 MONDO:excludeGene +OMIM:620685 MONDO:excludeGene OMIM:109780 MONDO:excludeNonDisease OMIM:116950 MONDO:excludeNonDisease OMIM:174750 MONDO:excludeNonDisease @@ -18723,7 +18796,6 @@ OMIM:305920 MONDO:excludeTrait OMIM:306300 MONDO:excludeTrait OMIM:306800 MONDO:excludeTrait OMIM:306930 MONDO:excludeTrait -OMIM:306950 MONDO:excludeTrait OMIM:306980 MONDO:excludeTrait OMIM:306990 MONDO:excludeTrait OMIM:306995 MONDO:excludeTrait @@ -36340,3 +36412,76 @@ OMIM:620563 MONDO:nonDisease OMIM:620564 MONDO:nonDisease OMIM:620566 MONDO:nonDisease OMIM:620567 MONDO:nonDisease +OMIM:620571 MONDO:nonDisease +OMIM:620572 MONDO:nonDisease +OMIM:620573 MONDO:nonDisease +OMIM:620574 MONDO:nonDisease +OMIM:620575 MONDO:nonDisease +OMIM:620577 MONDO:nonDisease +OMIM:620578 MONDO:nonDisease +OMIM:620579 MONDO:nonDisease +OMIM:620580 MONDO:nonDisease +OMIM:620581 MONDO:nonDisease +OMIM:620582 MONDO:nonDisease +OMIM:620584 MONDO:nonDisease +OMIM:620585 MONDO:nonDisease +OMIM:620586 MONDO:nonDisease +OMIM:620587 MONDO:nonDisease +OMIM:620588 MONDO:nonDisease +OMIM:620589 MONDO:nonDisease +OMIM:620590 MONDO:nonDisease +OMIM:620591 MONDO:nonDisease +OMIM:620592 MONDO:nonDisease +OMIM:620593 MONDO:nonDisease +OMIM:620594 MONDO:nonDisease +OMIM:620595 MONDO:nonDisease +OMIM:620596 MONDO:nonDisease +OMIM:620597 MONDO:nonDisease +OMIM:620598 MONDO:nonDisease +OMIM:620599 MONDO:nonDisease +OMIM:620600 MONDO:nonDisease +OMIM:620604 MONDO:nonDisease +OMIM:620605 MONDO:nonDisease +OMIM:620608 MONDO:nonDisease +OMIM:620611 MONDO:nonDisease +OMIM:620612 MONDO:nonDisease +OMIM:620613 MONDO:nonDisease +OMIM:620614 MONDO:nonDisease +OMIM:620615 MONDO:nonDisease +OMIM:620616 MONDO:nonDisease +OMIM:620617 MONDO:nonDisease +OMIM:620618 MONDO:nonDisease +OMIM:620619 MONDO:nonDisease +OMIM:620620 MONDO:nonDisease +OMIM:620621 MONDO:nonDisease +OMIM:620622 MONDO:nonDisease +OMIM:620623 MONDO:nonDisease +OMIM:620624 MONDO:nonDisease +OMIM:620625 MONDO:nonDisease +OMIM:620626 MONDO:nonDisease +OMIM:620630 MONDO:nonDisease +OMIM:620631 MONDO:nonDisease +OMIM:620633 MONDO:nonDisease +OMIM:620634 MONDO:nonDisease +OMIM:620637 MONDO:nonDisease +OMIM:620638 MONDO:nonDisease +OMIM:620640 MONDO:nonDisease +OMIM:620648 MONDO:nonDisease +OMIM:620649 MONDO:nonDisease +OMIM:620650 MONDO:nonDisease +OMIM:620652 MONDO:nonDisease +OMIM:620656 MONDO:nonDisease +OMIM:620660 MONDO:nonDisease +OMIM:620661 MONDO:nonDisease +OMIM:620664 MONDO:nonDisease +OMIM:620665 MONDO:nonDisease +OMIM:620667 MONDO:nonDisease +OMIM:620671 MONDO:nonDisease +OMIM:620672 MONDO:nonDisease +OMIM:620673 MONDO:nonDisease +OMIM:620676 MONDO:nonDisease +OMIM:620677 MONDO:nonDisease +OMIM:620678 MONDO:nonDisease +OMIM:620682 MONDO:nonDisease +OMIM:620684 MONDO:nonDisease +OMIM:620685 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index b196cc6f..f664e2b7 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -27,7 +27,6 @@ MONDO:0010804 OMIM:600048 MONDO:equivalentObsolete MONDO:0010859 OMIM:600309 MONDO:equivalentObsolete MONDO:0011111 OMIM:601563 MONDO:equivalentObsolete MONDO:0011543 OMIM:605365 MONDO:equivalentObsolete -MONDO:0011882 OMIM:607655 MONDO:equivalentObsolete MONDO:0011910 OMIM:607801 MONDO:equivalentObsolete MONDO:0012144 OMIM:608890 MONDO:equivalentObsolete MONDO:0012461 OMIM:610269 MONDO:equivalentObsolete @@ -35,7 +34,6 @@ MONDO:0012560 OMIM:610799 MONDO:equivalentObsolete MONDO:0013596 OMIM:614157 MONDO:equivalentObsolete MONDO:0013617 OMIM:614192 MONDO:equivalentObsolete MONDO:0013701 OMIM:614339 MONDO:equivalentObsolete -MONDO:0014695 OMIM:616568 MONDO:equivalentObsolete MONDO:0014849 OMIM:616958 MONDO:equivalentObsolete MONDO:0017996 OMIM:615057 MONDO:equivalentObsolete MONDO:0018138 OMIM:103470 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index e8734e04..9cd9d29a 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,5 +1,6 @@ subject_id subject_label is_mapped is_excluded is_deprecated OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 False False False +OMIM:301114 lui-jee-baron syndrome False False False OMIM:613035 hearing loss, noise-induced, susceptibility to False False False OMIM:620150 epidermolytic hyperkeratosis 2 False False False OMIM:620300 mitochondrial trifunctional protein deficiency 2 False False False @@ -18,13 +19,11 @@ OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 False F OMIM:620410 low density lipoprotein cholesterol level quantitative trait locus 3 False False False OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 False False False OMIM:620444 craniofacial microsomia 2 False False False -OMIM:620459 birt-hogg-dube syndrome 2 False False False OMIM:620460 oculopharyngeal muscular dystrophy 2 False False False OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 False False False OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay False False False OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay False False False OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy False False False -OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay False False False OMIM:620478 thrombocytopenia 9 False False False OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 False False False OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development False False False @@ -62,25 +61,60 @@ OMIM:620548 premature ovarian failure 22 False False False OMIM:620550 optic atrophy 14 False False False OMIM:620551 deafness, autosomal recessive 121 False False False OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia False False False +OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation False False False +OMIM:620568 cornelia lange lange syndrome 6 False False False +OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 False False False +OMIM:620570 ciliary dyskinesia, primary, 52 False False False +OMIM:620576 otosclerosis 11 False False False +OMIM:620583 optic atrophy 15 False False False +OMIM:620601 garg-mishra progeroid syndrome False False False +OMIM:620602 lymphatic malformation 14 False False False +OMIM:620603 immunodeficiency 114, folate-responsive False False False +OMIM:620606 spastic paraplegia 72b, autosomal recessive False False False +OMIM:620609 long-olsen-distelmaier syndrome False False False +OMIM:620610 oocyte/zygote/embryo maturation arrest 21 False False False +OMIM:620629 optic atrophy 16 False False False +OMIM:620632 immunodeficiency 115 with autoinflammation False False False +OMIM:620635 cardiomyopathy, dilated, 2j False False False +OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline False False False +OMIM:620639 osteogenesis imperfecta, iia 23 False False False +OMIM:620641 tan-almurshedi syndrome False False False +OMIM:620642 ciliary dyskinesia, primary, 53 False False False +OMIM:620646 combined oxidative phosphorylation deficiency 59 False False False +OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 False False False +OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome False False False +OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly False False False +OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies False False False +OMIM:620655 alfadhel syndrome False False False +OMIM:620662 hoxha-aliu syndrome False False False +OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau iia False False False +OMIM:620666 spastic ataxia 10, autosomal recessive False False False +OMIM:620668 immunodeficiency 117 False False False +OMIM:620669 neurodegeneration with brain iron accumulation 9 False False False +OMIM:620670 immunodeficiency, common variable, 15 False False False +OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant False False False +OMIM:620675 leukodystrophy, hypomyelinating, 27 False False False +OMIM:620679 lipodystrophy, familial partial, iia 8 False False False +OMIM:620680 lipodystrophy, congenital generalized, iia 5 False False False OMIMPS:109400 Basal cell nevus syndrome False False False OMIMPS:113800 Epidermolytic hyperkeratosis False False False -OMIMPS:135150 Birt-Hogg-Dube syndrome False False False OMIMPS:141200 Hematuria, benign familial False False False OMIMPS:151623 Li-Fraumeni syndrome False False False OMIMPS:164210 Craniofacial Microsomia False False False OMIMPS:164300 Oculopharyngeal muscular dystrophy False False False OMIMPS:167030 Nephrolithiasis, calcium oxalate False False False OMIMPS:177735 Pseudohypoaldosteronism, type I False False False -OMIMPS:278000 Lysosomal acid lipase deficiency False False False OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 False False False +OMIMPS:305450 FG syndrome False False False OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital False False False OMIMPS:605899 Glycine encephalopathy False False False OMIMPS:608415 Prolonged electroretinal response suppression False False False OMIMPS:609015 Mitochondrial trifunctional protein deficiency False False False OMIMPS:609628 Chronic recurrent multifocal osteomyelitis False False False OMIMPS:613652 C1q deficiency False False False -OMIMPS:616355 Houte-Janssens syndrome False False False +OMIMPS:616355 Houge-Janssens syndrome False False False OMIMPS:617290 Epilepsy, early-onset False False False +OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -1262,6 +1296,7 @@ OMIM:607561 False False True OMIM:607569 False False True OMIM:607595 False False True OMIM:607636 False False True +OMIM:607655 False False True OMIM:607661 False False True OMIM:607689 False False True OMIM:607692 False False True @@ -1391,6 +1426,7 @@ OMIM:615971 removed from database False False True OMIM:616018 removed from database False False True OMIM:616233 False False True OMIM:616369 False False True +OMIM:616568 False False True OMIM:616964 False False True OMIM:618007 False False True OMIM:618428 removed from database False False True @@ -2462,7 +2498,7 @@ OMIM:143040 antigen defined by monoclonal antibody f10.44.2 False True False OMIM:143054 HIVEP2 False True False OMIM:143055 CCNT1 False True False OMIM:143060 MIC6 False True False -OMIM:143089 HTLF False True False +OMIM:143089 FOXN2 False True False OMIM:143110 HLA-F False True False OMIM:143170 MEA1 False True False OMIM:143450 HADHB False True False @@ -10886,7 +10922,7 @@ OMIM:607705 PSME4 False True False OMIM:607707 CAMK2B False True False OMIM:607708 CAMK2D False True False OMIM:607709 TJP2 False True False -OMIM:607710 FAM189A2 False True False +OMIM:607710 ENTREP1 False True False OMIM:607711 DIP2A False True False OMIM:607712 HIC2 False True False OMIM:607713 killer-specific secretory protein, 37-kd False True False @@ -12256,7 +12292,7 @@ OMIM:609498 f-box only protein 47 False True False OMIM:609499 MCF2L False True False OMIM:609501 TDRKH False True False OMIM:609502 CDHR1 False True False -OMIM:609503 THEG False True False +OMIM:609503 SPMAP2 False True False OMIM:609504 MCRS1 False True False OMIM:609505 TRIM16 False True False OMIM:609506 CYP27B1 False True False @@ -14008,7 +14044,7 @@ OMIM:611709 MIR127 False True False OMIM:611710 MIR136 False True False OMIM:611711 MIR433 False True False OMIM:611712 HIPK4 False True False -OMIM:611713 TCTEX1D4 False True False +OMIM:611713 DYNLT4 False True False OMIM:611714 GAPVD1 False True False OMIM:611715 SRD5A3 False True False OMIM:611716 ATP6V0A2 False True False @@ -16351,7 +16387,7 @@ OMIM:615690 AMIGO2 False True False OMIM:615691 AMIGO3 False True False OMIM:615692 CHID1 False True False OMIM:615693 COLCA1 False True False -OMIM:615694 COLCA2 False True False +OMIM:615694 POU2AF3 False True False OMIM:615695 HEXIM2 False True False OMIM:615698 PLD3 False True False OMIM:615699 ZFTA False True False @@ -17139,7 +17175,7 @@ OMIM:617084 TMEM59 False True False OMIM:617085 FIBIN False True False OMIM:617089 NEPRO False True False OMIM:617094 IFT52 False True False -OMIM:617095 TTC25 False True False +OMIM:617095 ODAD4 False True False OMIM:617096 TMEM59L False True False OMIM:617097 LINC01194 False True False OMIM:617098 RNASEK False True False @@ -17277,7 +17313,7 @@ OMIM:617345 AGBL2 False True False OMIM:617346 AGBL3 False True False OMIM:617348 CPXM2 False True False OMIM:617351 IGSF10 False True False -OMIM:617353 TCTEX1D2 False True False +OMIM:617353 DYNLT2B False True False OMIM:617354 CBX8 False True False OMIM:617355 EID2B False True False OMIM:617356 SSPO False True False @@ -17797,7 +17833,7 @@ OMIM:618327 CRACD False True False OMIM:618334 CYBC1 False True False OMIM:618335 LINC00958 False True False OMIM:618337 FRMD8 False True False -OMIM:618338 METTL7A False True False +OMIM:618338 TMT1A False True False OMIM:618340 SMR3A False True False OMIM:618344 PRR15 False True False OMIM:618350 MAP11 False True False @@ -18868,6 +18904,79 @@ OMIM:620563 USP50 False True False OMIM:620564 AMN1 False True False OMIM:620566 CLDN22 False True False OMIM:620567 ZNF507 False True False +OMIM:620571 MIR512-1 False True False +OMIM:620572 MIR512-2 False True False +OMIM:620573 MIR520E False True False +OMIM:620574 MIR515-1 False True False +OMIM:620575 MIR519E False True False +OMIM:620577 FADS6 False True False +OMIM:620578 UQCC4 False True False +OMIM:620579 CCDC3 False True False +OMIM:620580 DQX1 False True False +OMIM:620581 OXNAD1 False True False +OMIM:620582 C1ORF210 False True False +OMIM:620584 MIR498 False True False +OMIM:620585 MIR520F False True False +OMIM:620586 MIR515-2 False True False +OMIM:620587 MIR519C False True False +OMIM:620588 MIR520A False True False +OMIM:620589 MIR526B False True False +OMIM:620590 RSAD1 False True False +OMIM:620591 MIR519B False True False +OMIM:620592 MIR525 False True False +OMIM:620593 MIR523 False True False +OMIM:620594 MIR518F False True False +OMIM:620595 MIR520B False True False +OMIM:620596 MIR518B False True False +OMIM:620597 MIR526A1 False True False +OMIM:620598 MIR518C False True False +OMIM:620599 MIR524 False True False +OMIM:620600 MIR517A False True False +OMIM:620604 PTGR3 False True False +OMIM:620605 CYP27C1 False True False +OMIM:620608 TEX264 False True False +OMIM:620611 MIR521-2 False True False +OMIM:620612 MIR520D False True False +OMIM:620613 MIR517B False True False +OMIM:620614 MIR516B2 False True False +OMIM:620615 MIR526A2 False True False +OMIM:620616 MIR518E False True False +OMIM:620617 MIR518A1 False True False +OMIM:620618 MIR518D False True False +OMIM:620619 MIR516B1 False True False +OMIM:620620 MIR518A2 False True False +OMIM:620621 MIR517C False True False +OMIM:620622 MIR521-1 False True False +OMIM:620623 MIR522 False True False +OMIM:620624 MIR519A1 False True False +OMIM:620625 MIR527 False True False +OMIM:620626 MIR516A1 False True False +OMIM:620630 TMEM170A False True False +OMIM:620631 EMC7 False True False +OMIM:620633 GOLT1A False True False +OMIM:620634 IRGC False True False +OMIM:620637 CPED1 False True False +OMIM:620638 KCTD4 False True False +OMIM:620640 RNF145 False True False +OMIM:620648 BTNL9 False True False +OMIM:620649 PLA2G4E False True False +OMIM:620650 GLOD4 False True False +OMIM:620652 SH3BP5L False True False +OMIM:620656 PSD2 False True False +OMIM:620660 CCZ1 False True False +OMIM:620661 C10ORF88 False True False +OMIM:620664 ARHGEF37 False True False +OMIM:620665 PLEKHG4B False True False +OMIM:620667 CEP128 False True False +OMIM:620671 POU2AF2 False True False +OMIM:620672 LRRC24 False True False +OMIM:620673 MAP1LC3B2 False True False +OMIM:620676 CCDC61 False True False +OMIM:620677 TMEM192 False True False +OMIM:620678 RINL False True False +OMIM:620682 SZRD1 False True False +OMIM:620684 HGH1 False True False +OMIM:620685 C19ORF53 False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False OMIM:100100 prune belly syndrome True False False @@ -19728,7 +19837,7 @@ OMIM:177650 exfoliation syndrome True False False OMIM:177700 glaucoma 1, open angle, p True False False OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant True False False OMIM:177750 pseudomonilethrix True False False -OMIM:177820 pseudo-von willebrand disease True False False +OMIM:177820 von willebrand disease, platelet-type True False False OMIM:177850 pseudoxanthoma elasticum, forme fruste True False False OMIM:177900 psoriasis 1, susceptibility to True False False OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features True False False @@ -20834,7 +20943,7 @@ OMIM:274600 pendred syndrome True False False OMIM:274700 thyroid dyshormonogenesis 3 True False False OMIM:274800 thyroid dyshormonogenesis 4 True False False OMIM:274900 thyroid dyshormonogenesis 5 True False False -OMIM:275000 graves disease, susceptibility to, 1 True False False +OMIM:275000 graves disease True False False OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 True False False OMIM:275120 thyrotropin-releasing hormone deficiency True False False OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 True False False @@ -21280,6 +21389,7 @@ OMIM:306000 glycogen storage disease ixa1 True False False OMIM:306400 granulomatous disease, chronic, X-linked True False False OMIM:306700 hemophilia a True False False OMIM:306900 hemophilia B True False False +OMIM:306950 diaphragmatic hernia 5, X-linked True False False OMIM:306955 heterotaxy, visceral, 1, X-linked True False False OMIM:306960 hhhh syndrome True False False OMIM:307000 hydrocephalus, congenital, X-linked True False False @@ -22496,7 +22606,7 @@ OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine r OMIM:608932 keratoconus 2 True False False OMIM:608935 lung cancer susceptibility 1 True False False OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy True False False -OMIM:608957 cd8 deficiency, familial True False False +OMIM:608957 immunodeficiency 116 True False False OMIM:608970 macular dystrophy, patterned, 2 True False False OMIM:608971 immunodeficiency 104 True False False OMIM:608978 meacham syndrome True False False @@ -23722,7 +23832,7 @@ OMIM:613827 retinitis pigmentosa 48 True False False OMIM:613828 generalized epilepsy with febrile seizures plus, iia 8 True False False OMIM:613829 leber congenital amaurosis 7 True False False OMIM:613830 night blindness, congenital stationary, iia 1d True False False -OMIM:613834 multisystemic smooth muscle dysfunction syndrome True False False +OMIM:613834 smooth muscle dysfunction syndrome True False False OMIM:613835 leber congenital amaurosis 8 True False False OMIM:613837 leber congenital amaurosis 11 True False False OMIM:613838 cardiomyopathy, familial hypertrophic, 16 True False False @@ -24032,7 +24142,7 @@ OMIM:614473 arterial calcification, generalized, of infancy, 2 True False False OMIM:614474 atrioventricular septal defect 5 True False False OMIM:614475 atrial septal defect 9 True False False OMIM:614480 hypertriglyceridemia, transient infantile True False False -OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration True False False +OMIM:614482 huppke-brendel syndrome True False False OMIM:614483 brain small vessel disease 2 True False False OMIM:614485 trigonocephaly 2 True False False OMIM:614486 thrombophilia due to thrombomodulin defect True False False @@ -24535,7 +24645,7 @@ OMIM:615612 developmental dysplasia of the hip 2 True False False OMIM:615615 immunodeficiency 18 True False False OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 True False False OMIM:615617 immunodeficiency 19 True False False -OMIM:615625 spastic paraplegia 72, autosomal recessive True False False +OMIM:615625 spastic paraplegia 72a, autosomal dominant True False False OMIM:615629 deafness, autosomal dominant 56 True False False OMIM:615630 short-rib thoracic dysplasia 10 with or without polydactyly True False False OMIM:615631 anemia, congenital dyserythropoietic, iia ib True False False @@ -24859,7 +24969,7 @@ OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 True False False OMIM:616355 houge-janssens syndrome 1 True False False OMIM:616357 deafness, autosomal dominant 40 True False False OMIM:616361 parkinson disease 21 True False False -OMIM:616362 intellectual developmental disorder, autosomal dominant 36 True False False +OMIM:616362 houge-janssens syndrome 2 True False False OMIM:616364 white-sutton syndrome True False False OMIM:616366 developmental and epileptic encephalopathy 32 True False False OMIM:616367 mandibulofacial dysostosis with alopecia True False False @@ -25756,7 +25866,7 @@ OMIM:618349 galloway-mowat syndrome 8 True False False OMIM:618351 microcephaly 25, primary, autosomal recessive True False False OMIM:618352 central centrifugal cicatricial alopecia True False False OMIM:618353 oocyte/zygote/embryo maturation arrest 6 True False False -OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities True False False +OMIM:618354 houge-janssens syndrome 3 True False False OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction True False False OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 True False False OMIM:618358 cone-rod dystrophy and hearing loss 2 True False False @@ -26315,7 +26425,7 @@ OMIM:619377 osteootohepatoenteric syndrome True False False OMIM:619379 spermatogenic failure 54 True False False OMIM:619380 spermatogenic failure 55 True False False OMIM:619381 immunodeficiency 82 with systemic inflammation True False False -OMIM:619382 leber hereditary optic neuropathy, autosomal recessive True False False +OMIM:619382 leber-like hereditary optic neuropathy, autosomal recessive 1 True False False OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities True False False OMIM:619386 combined oxidative phosphorylation deficiency 52 True False False OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 True False False @@ -26836,7 +26946,9 @@ OMIM:620455 neurodevelopmental disorder with hypotonia and speech delay, with or OMIM:620456 dystonia 22, adult-onset True False False OMIM:620457 auriculocondylar syndrome 4 True False False OMIM:620458 auriculocondylar syndrome 2b True False False +OMIM:620459 birt-hogg-dube syndrome 2 True False False OMIM:620462 cardiomyopathy, dilated, 2i True False False +OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay True False False OMIMPS:100070 Aortic aneurysm, familial abdominal True False False OMIMPS:100300 Adams-Oliver syndrome True False False OMIMPS:101800 Acrodysostosis True False False @@ -26912,6 +27024,7 @@ OMIMPS:133200 Erythrokeratodermia variabilis et progressiva True False False OMIMPS:133700 Exostoses, Multiple True False False OMIMPS:133780 Exudative vitreoretinopathy True False False OMIMPS:134600 Fanconi renotubular syndrome True False False +OMIMPS:135150 Birt-Hogg-Dube syndrome True False False OMIMPS:135300 Gingival fibromatosis True False False OMIMPS:135500 Zimmermann-Laband syndrome True False False OMIMPS:135700 Fibrosis of extraocular muscles, congenital True False False @@ -27202,6 +27315,7 @@ OMIMPS:277300 Spondylocostal dysostosis True False False OMIMPS:277400 Methylmalonic aciduria and homocystinuria True False False OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of True False False OMIMPS:277600 Weill-Marchesani syndrome True False False +OMIMPS:278000 Lysosomal acid lipase deficiency True False False OMIMPS:278300 Xanthinuria True False False OMIMPS:300009 Dent disease True False False OMIMPS:300049 Periventricular nodular heterotopia True False False @@ -27217,7 +27331,6 @@ OMIMPS:301050 Alport syndrome True False False OMIMPS:303350 Spastic paraplegia True False False OMIMPS:304500 Deafness, X-linked True False False OMIMPS:305100 Ectodermal dysplasia (select examples) True False False -OMIMPS:305400 FG syndrome True False False OMIMPS:305620 Frontometaphyseal dysplasia True False False OMIMPS:306400 Granulomatous disease, chronic True False False OMIMPS:306955 Heterotaxy, visceral True False False @@ -27420,7 +27533,6 @@ OMIM:600309 True False True OMIM:601251 True False True OMIM:601563 True False True OMIM:605365 True False True -OMIM:607655 True False True OMIM:607801 True False True OMIM:608890 True False True OMIM:610269 True False True @@ -27430,7 +27542,6 @@ OMIM:614157 True False True OMIM:614192 True False True OMIM:614339 True False True OMIM:615057 True False True -OMIM:616568 True False True OMIM:616958 True False True OMIM:100050 aarskog syndrome, autosomal dominant True True False OMIM:100200 abducens palsy True True False @@ -28658,7 +28769,6 @@ OMIM:305920 glutamyl ribose-5-phosphate storage disease True True False OMIM:306300 granulomas, congenital cerebral True True False OMIM:306800 hemophilia a with vascular abnormality True True False OMIM:306930 hemopoietic proliferation True True False -OMIM:306950 hernia, anterior diaphragmatic True True False OMIM:306980 hirschsprung disease with iia d brachydactyly True True False OMIM:306990 microhydranencephaly, X-linked True True False OMIM:306995 homosexuality 1 True True False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 181a1c26..9291612e 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -4427,7 +4427,6 @@ OMIM:306300 OMIM:306480 OMIM:306800 OMIM:306930 -OMIM:306950 OMIM:306980 OMIM:306990 OMIM:306995 @@ -19094,3 +19093,76 @@ OMIM:620563 OMIM:620564 OMIM:620566 OMIM:620567 +OMIM:620571 +OMIM:620572 +OMIM:620573 +OMIM:620574 +OMIM:620575 +OMIM:620577 +OMIM:620578 +OMIM:620579 +OMIM:620580 +OMIM:620581 +OMIM:620582 +OMIM:620584 +OMIM:620585 +OMIM:620586 +OMIM:620587 +OMIM:620588 +OMIM:620589 +OMIM:620590 +OMIM:620591 +OMIM:620592 +OMIM:620593 +OMIM:620594 +OMIM:620595 +OMIM:620596 +OMIM:620597 +OMIM:620598 +OMIM:620599 +OMIM:620600 +OMIM:620604 +OMIM:620605 +OMIM:620608 +OMIM:620611 +OMIM:620612 +OMIM:620613 +OMIM:620614 +OMIM:620615 +OMIM:620616 +OMIM:620617 +OMIM:620618 +OMIM:620619 +OMIM:620620 +OMIM:620621 +OMIM:620622 +OMIM:620623 +OMIM:620624 +OMIM:620625 +OMIM:620626 +OMIM:620630 +OMIM:620631 +OMIM:620633 +OMIM:620634 +OMIM:620637 +OMIM:620638 +OMIM:620640 +OMIM:620648 +OMIM:620649 +OMIM:620650 +OMIM:620652 +OMIM:620656 +OMIM:620660 +OMIM:620661 +OMIM:620664 +OMIM:620665 +OMIM:620667 +OMIM:620671 +OMIM:620672 +OMIM:620673 +OMIM:620676 +OMIM:620677 +OMIM:620678 +OMIM:620682 +OMIM:620684 +OMIM:620685 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 122ce182..91c23414 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,36 +1,41 @@ subject_id subject_label OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital OMIMPS:109400 Basal cell nevus syndrome -OMIMPS:135150 Birt-Hogg-Dube syndrome OMIMPS:613652 C1q deficiency OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 OMIMPS:609628 Chronic recurrent multifocal osteomyelitis OMIMPS:164210 Craniofacial Microsomia OMIMPS:113800 Epidermolytic hyperkeratosis OMIMPS:617290 Epilepsy, early-onset +OMIMPS:305450 FG syndrome OMIMPS:605899 Glycine encephalopathy OMIMPS:141200 Hematuria, benign familial -OMIMPS:616355 Houte-Janssens syndrome +OMIMPS:616355 Houge-Janssens syndrome +OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive OMIMPS:151623 Li-Fraumeni syndrome -OMIMPS:278000 Lysosomal acid lipase deficiency OMIMPS:609015 Mitochondrial trifunctional protein deficiency OMIMPS:167030 Nephrolithiasis, calcium oxalate OMIMPS:164300 Oculopharyngeal muscular dystrophy OMIMPS:608415 Prolonged electroretinal response suppression OMIMPS:177735 Pseudohypoaldosteronism, type I +OMIM:620655 alfadhel syndrome OMIM:620536 alport syndrome 3b, autosomal recessive OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 OMIM:620519 arrhythmogenic cardiomyopathy with variable ectodermal abnormalities OMIM:620545 arthrogryposis, distal, iia 12 OMIM:620343 basal cell nevus syndrome 2 -OMIM:620459 birt-hogg-dube syndrome 2 OMIM:620486 bleeding disorder, platelet-type, 25 OMIM:620321 c1q deficiency 2 OMIM:620322 c1q deficiency 3 +OMIM:620635 cardiomyopathy, dilated, 2j OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 OMIM:620425 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 +OMIM:620570 ciliary dyskinesia, primary, 52 +OMIM:620642 ciliary dyskinesia, primary, 53 +OMIM:620646 combined oxidative phosphorylation deficiency 59 OMIM:620546 congenital disorder of glycosylation, iia iibb OMIM:620470 congenital smooth muscle hamartoma, with or without hemihypertrophy +OMIM:620568 cornelia lange lange syndrome 6 OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay OMIM:620444 craniofacial microsomia 2 OMIM:620558 craniometadiaphyseal osteosclerosis with hip dysplasia @@ -39,23 +44,41 @@ OMIM:620504 developmental and epileptic encephalopathy 111 OMIM:620537 developmental and epileptic encephalopathy 112 OMIM:620540 developmental delay with or without epilepsy OMIM:620535 developmental delay, dysmorphic facies, and brain anomalies +OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:620150 epidermolytic hyperkeratosis 2 OMIM:620465 epilepsy, early-onset, 3, with or without developmental delay OMIM:620511 fliedner-zweier syndrome +OMIM:620601 garg-mishra progeroid syndrome OMIM:620398 glycine encephalopathy 2 OMIM:613035 hearing loss, noise-induced, susceptibility to OMIM:620320 hematuria, benign familial, 2 +OMIM:620662 hoxha-aliu syndrome OMIM:620532 hyper-ige syndrome 6, autosomal dominant, with recurrent infections OMIM:620507 ichthyosis with erythrokeratoderma OMIM:620514 immune dysregulation, autoimmunity, and autoinflammation +OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation +OMIM:620603 immunodeficiency 114, folate-responsive +OMIM:620632 immunodeficiency 115 with autoinflammation +OMIM:620668 immunodeficiency 117 +OMIM:620670 immunodeficiency, common variable, 15 +OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly +OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 +OMIM:620675 leukodystrophy, hypomyelinating, 27 OMIM:620312 leukoencephalopathy with vanishing white matter 2 OMIM:620313 leukoencephalopathy with vanishing white matter 3 OMIM:620314 leukoencephalopathy with vanishing white matter 4 OMIM:620315 leukoencephalopathy with vanishing white matter 5 +OMIM:620680 lipodystrophy, congenital generalized, iia 5 +OMIM:620679 lipodystrophy, familial partial, iia 8 +OMIM:620609 long-olsen-distelmaier syndrome OMIM:620410 low density lipoprotein cholesterol level quantitative trait locus 3 +OMIM:301114 lui-jee-baron syndrome +OMIM:620602 lymphatic malformation 14 OMIM:620300 mitochondrial trifunctional protein deficiency 2 OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis +OMIM:620669 neurodegeneration with brain iron accumulation 9 +OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM:620489 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities OMIM:620494 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies OMIM:620502 neurodevelopmental disorder with language delay and variable cognitive abnormalities @@ -64,19 +87,30 @@ OMIM:620528 neuronopathy, distal hereditary motor, autosomal dominant 11 OMIM:620542 neuronopathy, distal hereditary motor, autosomal recessive 10 OMIM:620402 neuronopathy, distal hereditary motor, autosomal recessive 9 OMIM:620534 neutropenia, severe congenital, 10, autosomal recessive +OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant OMIM:620460 oculopharyngeal muscular dystrophy 2 +OMIM:620610 oocyte/zygote/embryo maturation arrest 21 OMIM:620550 optic atrophy 14 +OMIM:620583 optic atrophy 15 +OMIM:620629 optic atrophy 16 +OMIM:620639 osteogenesis imperfecta, iia 23 +OMIM:620576 otosclerosis 11 OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development OMIM:620548 premature ovarian failure 22 +OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 OMIM:620344 prolonged electroretinal response suppression 2 +OMIM:620666 spastic ataxia 10, autosomal recessive OMIM:620512 spastic paraplegia 18a, autosomal dominant +OMIM:620606 spastic paraplegia 72b, autosomal recessive OMIM:620538 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia OMIM:620490 spermatogenic failure 85 OMIM:620499 spermatogenic failure 86 OMIM:620500 spermatogenic failure 87 OMIM:620547 spermatogenic failure 88 +OMIM:620663 spondyloepimetaphyseal dysplasia, guo-campeau iia +OMIM:620641 tan-almurshedi syndrome OMIM:620484 thrombocytopenia 10 -OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay +OMIM:620654 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM:620478 thrombocytopenia 9 OMIM:620483 variegate porphyria, childhood-onset OMIM:620510 xerosis and growth failure with immune and pulmonary dysfunction syndrome diff --git a/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv b/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv index 705b7cc3..59d0c445 100644 --- a/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv @@ -15,6 +15,7 @@ Orphanet:108967 MONDO:excludeComplication Orphanet:108969 MONDO:excludeComplication Orphanet:108971 MONDO:excludeComplication Orphanet:117573 MONDO:excludeComplication +Orphanet:1303 MONDO:excludeComplication Orphanet:156152 MONDO:excludeComplication Orphanet:158038 MONDO:excludeComplication Orphanet:163631 MONDO:excludeComplication @@ -876,7 +877,6 @@ Orphanet:120218 MONDO:excludeNonDisease Orphanet:120220 MONDO:excludeNonDisease Orphanet:120223 MONDO:excludeNonDisease Orphanet:120227 MONDO:excludeNonDisease -Orphanet:120231 MONDO:excludeNonDisease Orphanet:120233 MONDO:excludeNonDisease Orphanet:120236 MONDO:excludeNonDisease Orphanet:120239 MONDO:excludeNonDisease @@ -2517,14 +2517,8 @@ Orphanet:240691 MONDO:excludeNonDisease Orphanet:240935 MONDO:excludeNonDisease Orphanet:240947 MONDO:excludeNonDisease Orphanet:241043 MONDO:excludeNonDisease -Orphanet:241953 MONDO:excludeNonDisease -Orphanet:241960 MONDO:excludeNonDisease -Orphanet:241965 MONDO:excludeNonDisease Orphanet:241969 MONDO:excludeNonDisease -Orphanet:241984 MONDO:excludeNonDisease -Orphanet:241987 MONDO:excludeNonDisease Orphanet:241992 MONDO:excludeNonDisease -Orphanet:241994 MONDO:excludeNonDisease Orphanet:241999 MONDO:excludeNonDisease Orphanet:242004 MONDO:excludeNonDisease Orphanet:242313 MONDO:excludeNonDisease @@ -2726,10 +2720,8 @@ Orphanet:281953 MONDO:excludeNonDisease Orphanet:282786 MONDO:excludeNonDisease Orphanet:283988 MONDO:excludeNonDisease Orphanet:284102 MONDO:excludeNonDisease -Orphanet:284108 MONDO:excludeNonDisease Orphanet:284116 MONDO:excludeNonDisease Orphanet:284121 MONDO:excludeNonDisease -Orphanet:284125 MONDO:excludeNonDisease Orphanet:284146 MONDO:excludeNonDisease Orphanet:284155 MONDO:excludeNonDisease Orphanet:284237 MONDO:excludeNonDisease @@ -2958,8 +2950,6 @@ Orphanet:311140 MONDO:excludeNonDisease Orphanet:311145 MONDO:excludeNonDisease Orphanet:311271 MONDO:excludeNonDisease Orphanet:311350 MONDO:excludeNonDisease -Orphanet:311352 MONDO:excludeNonDisease -Orphanet:311355 MONDO:excludeNonDisease Orphanet:311367 MONDO:excludeNonDisease Orphanet:311398 MONDO:excludeNonDisease Orphanet:311424 MONDO:excludeNonDisease @@ -3021,7 +3011,6 @@ Orphanet:317798 MONDO:excludeNonDisease Orphanet:317857 MONDO:excludeNonDisease Orphanet:318745 MONDO:excludeNonDisease Orphanet:318754 MONDO:excludeNonDisease -Orphanet:318801 MONDO:excludeNonDisease Orphanet:318839 MONDO:excludeNonDisease Orphanet:318853 MONDO:excludeNonDisease Orphanet:318860 MONDO:excludeNonDisease @@ -3063,7 +3052,6 @@ Orphanet:323464 MONDO:excludeNonDisease Orphanet:323471 MONDO:excludeNonDisease Orphanet:324240 MONDO:excludeNonDisease Orphanet:324251 MONDO:excludeNonDisease -Orphanet:324270 MONDO:excludeNonDisease Orphanet:325017 MONDO:excludeNonDisease Orphanet:325022 MONDO:excludeNonDisease Orphanet:325025 MONDO:excludeNonDisease @@ -3238,7 +3226,6 @@ Orphanet:358399 MONDO:excludeNonDisease Orphanet:358431 MONDO:excludeNonDisease Orphanet:358443 MONDO:excludeNonDisease Orphanet:358448 MONDO:excludeNonDisease -Orphanet:358452 MONDO:excludeNonDisease Orphanet:358558 MONDO:excludeNonDisease Orphanet:358562 MONDO:excludeNonDisease Orphanet:358571 MONDO:excludeNonDisease @@ -3613,7 +3600,6 @@ Orphanet:422342 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Orphanet:470184 MONDO:excludeNonDisease @@ -4233,6 +4218,7 @@ Orphanet:495231 MONDO:excludeNonDisease Orphanet:495237 MONDO:excludeNonDisease Orphanet:495297 MONDO:excludeNonDisease Orphanet:495680 MONDO:excludeNonDisease +Orphanet:495724 MONDO:excludeNonDisease Orphanet:495760 MONDO:excludeNonDisease Orphanet:495783 MONDO:excludeNonDisease Orphanet:496171 MONDO:excludeNonDisease @@ -4316,7 +4302,6 @@ Orphanet:509184 MONDO:excludeNonDisease Orphanet:509232 MONDO:excludeNonDisease Orphanet:509234 MONDO:excludeNonDisease Orphanet:509236 MONDO:excludeNonDisease -Orphanet:509238 MONDO:excludeNonDisease Orphanet:509258 MONDO:excludeNonDisease Orphanet:509260 MONDO:excludeNonDisease Orphanet:509296 MONDO:excludeNonDisease @@ -4565,6 +4550,7 @@ Orphanet:594386 MONDO:excludeNonDisease Orphanet:594424 MONDO:excludeNonDisease Orphanet:594489 MONDO:excludeNonDisease Orphanet:594573 MONDO:excludeNonDisease +Orphanet:594670 MONDO:excludeNonDisease Orphanet:594702 MONDO:excludeNonDisease Orphanet:594756 MONDO:excludeNonDisease Orphanet:594773 MONDO:excludeNonDisease @@ -4690,6 +4676,7 @@ Orphanet:617908 MONDO:excludeNonDisease Orphanet:618569 MONDO:excludeNonDisease Orphanet:618572 MONDO:excludeNonDisease Orphanet:618944 MONDO:excludeNonDisease +Orphanet:618952 MONDO:excludeNonDisease Orphanet:619246 MONDO:excludeNonDisease Orphanet:619277 MONDO:excludeNonDisease Orphanet:621764 MONDO:excludeNonDisease @@ -4787,6 +4774,8 @@ Orphanet:650055 MONDO:excludeNonDisease Orphanet:650057 MONDO:excludeNonDisease Orphanet:650059 MONDO:excludeNonDisease Orphanet:650061 MONDO:excludeNonDisease +Orphanet:652816 MONDO:excludeNonDisease +Orphanet:653915 MONDO:excludeNonDisease Orphanet:C001 MONDO:excludeNonDisease Orphanet:C010 MONDO:excludeNonDisease Orphanet:100039 MONDO:excludeObsoleteSource @@ -4995,6 +4984,7 @@ Orphanet:178330 MONDO:excludeObsoleteSource Orphanet:178503 MONDO:excludeObsoleteSource Orphanet:1789 MONDO:excludeObsoleteSource Orphanet:1792 MONDO:excludeObsoleteSource 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@@ -5516,6 +5427,7 @@ Orphanet:308573 MONDO:excludeObsoleteSource Orphanet:308604 MONDO:excludeObsoleteSource Orphanet:3087 MONDO:excludeObsoleteSource Orphanet:309139 MONDO:excludeObsoleteSource +Orphanet:309239 MONDO:excludeObsoleteSource Orphanet:3105 MONDO:excludeObsoleteSource Orphanet:3106 MONDO:excludeObsoleteSource Orphanet:3112 MONDO:excludeObsoleteSource @@ -5527,6 +5439,7 @@ Orphanet:3128 MONDO:excludeObsoleteSource Orphanet:3133 MONDO:excludeObsoleteSource Orphanet:3135 MONDO:excludeObsoleteSource Orphanet:3140 MONDO:excludeObsoleteSource +Orphanet:314629 MONDO:excludeObsoleteSource Orphanet:314928 MONDO:excludeObsoleteSource Orphanet:314946 MONDO:excludeObsoleteSource Orphanet:3153 MONDO:excludeObsoleteSource @@ -5568,7 +5481,6 @@ Orphanet:330009 MONDO:excludeObsoleteSource Orphanet:330197 MONDO:excludeObsoleteSource Orphanet:3311 MONDO:excludeObsoleteSource Orphanet:3313 MONDO:excludeObsoleteSource -Orphanet:3315 MONDO:excludeObsoleteSource Orphanet:3323 MONDO:excludeObsoleteSource Orphanet:33271 MONDO:excludeObsoleteSource Orphanet:3331 MONDO:excludeObsoleteSource @@ -5587,7 +5499,6 @@ Orphanet:338 MONDO:excludeObsoleteSource Orphanet:3390 MONDO:excludeObsoleteSource Orphanet:3391 MONDO:excludeObsoleteSource Orphanet:34 MONDO:excludeObsoleteSource -Orphanet:34145 MONDO:excludeObsoleteSource Orphanet:3419 MONDO:excludeObsoleteSource Orphanet:3421 MONDO:excludeObsoleteSource Orphanet:3423 MONDO:excludeObsoleteSource @@ -5618,6 +5529,7 @@ Orphanet:352613 MONDO:excludeObsoleteSource Orphanet:352694 MONDO:excludeObsoleteSource Orphanet:352699 MONDO:excludeObsoleteSource Orphanet:352704 MONDO:excludeObsoleteSource +Orphanet:352709 MONDO:excludeObsoleteSource Orphanet:352740 MONDO:excludeObsoleteSource Orphanet:353225 MONDO:excludeObsoleteSource Orphanet:35688 MONDO:excludeObsoleteSource @@ -5645,7 +5557,6 @@ Orphanet:383 MONDO:excludeObsoleteSource Orphanet:387 MONDO:excludeObsoleteSource Orphanet:391479 MONDO:excludeObsoleteSource Orphanet:391658 MONDO:excludeObsoleteSource -Orphanet:398980 MONDO:excludeObsoleteSource Orphanet:40050 MONDO:excludeObsoleteSource Orphanet:401825 MONDO:excludeObsoleteSource Orphanet:406 MONDO:excludeObsoleteSource @@ -5654,7 +5565,6 @@ Orphanet:411533 MONDO:excludeObsoleteSource Orphanet:411969 MONDO:excludeObsoleteSource Orphanet:412220 MONDO:excludeObsoleteSource Orphanet:413 MONDO:excludeObsoleteSource -Orphanet:413690 MONDO:excludeObsoleteSource Orphanet:415268 MONDO:excludeObsoleteSource Orphanet:415300 MONDO:excludeObsoleteSource Orphanet:415675 MONDO:excludeObsoleteSource @@ -5745,6 +5655,7 @@ Orphanet:56965 MONDO:excludeObsoleteSource Orphanet:57194 MONDO:excludeObsoleteSource Orphanet:58208 MONDO:excludeObsoleteSource Orphanet:58220 MONDO:excludeObsoleteSource +Orphanet:587 MONDO:excludeObsoleteSource Orphanet:619 MONDO:excludeObsoleteSource Orphanet:619360 MONDO:excludeObsoleteSource Orphanet:620 MONDO:excludeObsoleteSource @@ -5793,7 +5704,6 @@ Orphanet:77302 MONDO:excludeObsoleteSource Orphanet:77303 MONDO:excludeObsoleteSource Orphanet:77304 MONDO:excludeObsoleteSource Orphanet:775 MONDO:excludeObsoleteSource -Orphanet:788 MONDO:excludeObsoleteSource Orphanet:79022 MONDO:excludeObsoleteSource Orphanet:79132 MONDO:excludeObsoleteSource Orphanet:79142 MONDO:excludeObsoleteSource diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index a75b0682..310b796d 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -1,2 +1,227 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0001153 Orphanet:459690 MONDO:equivalentObsolete +MONDO:0001807 Orphanet:79211 MONDO:equivalentObsolete +MONDO:0003144 Orphanet:251883 MONDO:equivalentObsolete +MONDO:0006042 Orphanet:499004 MONDO:equivalentObsolete +MONDO:0007761 Orphanet:413 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MONDO:equivalentObsolete +MONDO:0011910 Orphanet:265 MONDO:equivalentObsolete +MONDO:0012188 Orphanet:228357 MONDO:equivalentObsolete +MONDO:0012282 Orphanet:2725 MONDO:equivalentObsolete +MONDO:0012296 Orphanet:268835 MONDO:equivalentObsolete +MONDO:0012414 Orphanet:228337 MONDO:equivalentObsolete +MONDO:0012588 Orphanet:228366 MONDO:equivalentObsolete +MONDO:0013297 Orphanet:238755 MONDO:equivalentObsolete +MONDO:0013866 Orphanet:314629 MONDO:equivalentObsolete +MONDO:0014147 Orphanet:352709 MONDO:equivalentObsolete +MONDO:0014788 Orphanet:466801 MONDO:equivalentObsolete +MONDO:0015120 Orphanet:101949 MONDO:equivalentObsolete +MONDO:0015163 Orphanet:102373 MONDO:equivalentObsolete +MONDO:0015172 Orphanet:103912 MONDO:equivalentObsolete +MONDO:0015173 Orphanet:103916 MONDO:equivalentObsolete +MONDO:0015217 Orphanet:108985 MONDO:equivalentObsolete +MONDO:0015218 Orphanet:108987 MONDO:equivalentObsolete +MONDO:0015255 Orphanet:1256 MONDO:equivalentObsolete +MONDO:0015297 Orphanet:137653 MONDO:equivalentObsolete +MONDO:0015311 Orphanet:137911 MONDO:equivalentObsolete +MONDO:0015343 Orphanet:139420 MONDO:equivalentObsolete +MONDO:0015551 Orphanet:158665 MONDO:equivalentObsolete +MONDO:0015560 Orphanet:158796 MONDO:equivalentObsolete +MONDO:0015591 Orphanet:163903 MONDO:equivalentObsolete +MONDO:0015593 Orphanet:163914 MONDO:equivalentObsolete +MONDO:0015594 Orphanet:163918 MONDO:equivalentObsolete +MONDO:0015602 Orphanet:163988 MONDO:equivalentObsolete +MONDO:0015713 Orphanet:169615 MONDO:equivalentObsolete +MONDO:0015714 Orphanet:169618 MONDO:equivalentObsolete +MONDO:0015902 Orphanet:181425 MONDO:equivalentObsolete +MONDO:0015919 Orphanet:182073 MONDO:equivalentObsolete +MONDO:0015920 Orphanet:182076 MONDO:equivalentObsolete +MONDO:0015937 Orphanet:182214 MONDO:equivalentObsolete +MONDO:0015964 Orphanet:183598 MONDO:equivalentObsolete +MONDO:0015965 Orphanet:183601 MONDO:equivalentObsolete +MONDO:0015999 Orphanet:189439 MONDO:equivalentObsolete +MONDO:0016082 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Orphanet:2861 MONDO:equivalentObsolete +MONDO:0023072 Orphanet:1939 MONDO:equivalentObsolete +MONDO:0034556 Orphanet:493348 MONDO:equivalentObsolete +MONDO:0043007 Orphanet:330197 MONDO:equivalentObsolete +MONDO:0044683 Orphanet:498700 MONDO:equivalentObsolete +MONDO:0100343 Orphanet:93604 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index a6be6b9e..2fe7e9b2 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -1,6162 +1,19 @@ subject_id subject_label is_mapped is_excluded is_deprecated -Orphanet:10 48,XXYY syndrome False False False -Orphanet:100 Ataxia-telangiectasia False False False -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness False False False -Orphanet:100000 Reticular perineurioma False False False -Orphanet:100001 Sclerosing perineurioma False False False -Orphanet:100002 Extraneural perineurioma False False False -Orphanet:100003 Intraneural perineurioma False False False -Orphanet:100006 ABeta amyloidosis, Dutch type False False False -Orphanet:100008 ACys amyloidosis False False False -Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A False False False -Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B False False False -Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C False False False -Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D False False False -Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E False False False -Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F False False False -Orphanet:100019 Refractory anemia with excess blasts type 1 False False False -Orphanet:100020 Refractory anemia with excess blasts type 2 False False False -Orphanet:100021 Primary plasmacytoma of the bone False False False -Orphanet:100022 Extramedullary soft tissue plasmacytoma False False False -Orphanet:100024 Mu-heavy chain disease False False False -Orphanet:100025 Alpha-heavy chain disease False False False -Orphanet:100026 Gamma-heavy chain disease False False False -Orphanet:100031 Hypoplastic amelogenesis imperfecta False False False -Orphanet:100032 Hypocalcified amelogenesis imperfecta False False False -Orphanet:100033 Hypomaturation amelogenesis imperfecta False False False -Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism False False False -Orphanet:100035 Solitary necrotic nodule of the liver False False False -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A False False False -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B False False False -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C False False False -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D False False False -Orphanet:100047 Esophageal duplication cyst False False False -Orphanet:100048 Tubular duplication of the esophagus False False False -Orphanet:100050 Hereditary angioedema type 1 False False False -Orphanet:100051 Hereditary angioedema type 2 False False False -Orphanet:100054 F12-related hereditary angioedema with normal C1Inh False False False -Orphanet:100055 Acquired angioedema type 2 False False False -Orphanet:100056 Acquired angioedema type 1 False False False -Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema False False False -Orphanet:100067 Waterhouse-Friderichsen syndrome False False False -Orphanet:100069 Semantic dementia False False False -Orphanet:100070 Progressive non-fluent aphasia False False False -Orphanet:100071 Mosaic trisomy 3 False False False -Orphanet:100073 Neurogenic thoracic outlet syndrome False False False -Orphanet:100075 Neuroendocrine tumor of stomach False False False -Orphanet:100078 Ileal neuroendocrine tumor False False False -Orphanet:100079 Neuroendocrine neoplasm of appendix False False False -Orphanet:100080 Neuroendocrine tumor of the colon False False False -Orphanet:100081 Neuroendocrine tumor of the rectum False False False -Orphanet:100082 Neuroendocrine tumor of anal canal False False False -Orphanet:100083 Laryngeal neuroendocrine tumor False False False -Orphanet:100084 Middle ear neuroendocrine tumor False False False -Orphanet:100085 Primary hepatic neuroendocrine carcinoma False False False -Orphanet:100086 Gallbladder neuroendocrine tumor False False False -Orphanet:100087 Rare thyroid tumor False False False -Orphanet:100088 Rare thyroid carcinoma False False False -Orphanet:100090 Rare parathyroid tumor False False False -Orphanet:100091 Adrenal/paraganglial tumor False False False -Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm False False False -Orphanet:100093 Carcinoid syndrome False False False -Orphanet:100094 Multiple polyglandular tumor False False False -Orphanet:1001 2q37 microdeletion syndrome False False False -Orphanet:100100 Thymic tumor False False False -Orphanet:100101 Neuroendocrine tumor with other location False False False -Orphanet:1003 Scalp defects-postaxial polydactyly syndrome False False False -Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome False False False -Orphanet:1006 Alopecia antibody deficiency False False False -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome False False False -Orphanet:100924 Porphyria due to ALA dehydratase deficiency False False False -Orphanet:100973 FRAXE intellectual disability False False False -Orphanet:100974 FRAXF syndrome False False False -Orphanet:100976 Bathing suit ichthyosis False False False -Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome False False False -Orphanet:100979 Autosomal dominant complex spastic paraplegia False False False -Orphanet:100980 Autosomal dominant pure spastic paraplegia False False False -Orphanet:100981 Autosomal recessive complex spastic paraplegia False False False -Orphanet:100982 Autosomal recessive pure spastic paraplegia False False False -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 False False False -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 False False False -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A False False False -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 False False False -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 False False False -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 False False False -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 False False False -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 False False False -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 False False False -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 False False False -Orphanet:100997 X-linked spastic paraplegia type 16 False False False -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 False False False -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 False False False -Orphanet:101 Dentatorubral pallidoluysian atrophy False False False -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia False False False -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 False False False -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 False False False -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 False False False -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 False False False -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 False False False -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 False False False -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 False False False -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 False False False -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 False False False -Orphanet:101010 Autosomal spastic paraplegia type 30 False False False -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 False False False -Orphanet:101016 Romano-Ward syndrome False False False -Orphanet:101023 Cleft hard palate False False False -Orphanet:101028 Transaldolase deficiency False False False -Orphanet:101029 Sub-cortical nodular heterotopia False False False -Orphanet:101030 Subependymal nodular heterotopia False False False -Orphanet:101039 Female restricted epilepsy with intellectual disability False False False -Orphanet:101041 Familial hypofibrinogenemia False False False -Orphanet:101043 Congenital aortic valve dysplasia False False False -Orphanet:101046 Autosomal dominant epilepsy with auditory features False False False -Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 False False False -Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 False False False -Orphanet:101063 Situs inversus totalis False False False -Orphanet:101068 Congenital stromal corneal dystrophy False False False -Orphanet:101070 Bilateral frontoparietal polymicrogyria False False False -Orphanet:101071 Unilateral hemispheric polymicrogyria False False False -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 False False False -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 False False False -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 False False False -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 False False False -Orphanet:101081 Charcot-Marie-Tooth disease type 1A False False False -Orphanet:101082 Charcot-Marie-Tooth disease type 1B False False False -Orphanet:101083 Charcot-Marie-Tooth disease type 1C False False False -Orphanet:101084 Charcot-Marie-Tooth disease type 1D False False False -Orphanet:101085 Charcot-Marie-Tooth disease type 1F False False False -Orphanet:101088 X-linked hyper-IgM syndrome False False False -Orphanet:101089 Hyper-IgM syndrome type 2 False False False -Orphanet:101090 Hyper-IgM syndrome type 3 False False False -Orphanet:101091 Hyper-IgM syndrome type 4 False False False -Orphanet:101092 Hyper-IgM syndrome type 5 False False False -Orphanet:101096 Aregenerative anemia False False False -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness False False False -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 False False False -Orphanet:101102 Charcot-Marie-Tooth disease type 2H False False False -Orphanet:101104 Marin-Amat syndrome False False False -Orphanet:101108 Spinocerebellar ataxia type 23 False False False -Orphanet:101109 Spinocerebellar ataxia type 28 False False False -Orphanet:101110 Spinocerebellar ataxia type 20 False False False -Orphanet:101111 Spinocerebellar ataxia type 25 False False False -Orphanet:101112 Spinocerebellar ataxia type 26 False False False -Orphanet:101150 Autosomal recessive dopa-responsive dystonia False False False -Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome False False False -Orphanet:101330 Porphyria cutanea tarda False False False -Orphanet:101334 African tick typhus False False False -Orphanet:101351 Familial isolated congenital asplenia False False False -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome False False False -Orphanet:101433 Rare urogenital disease False False False -Orphanet:101435 Rare genetic eye disease False False False -Orphanet:101685 Rare non-syndromic intellectual disability False False False -Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis False False False -Orphanet:101932 Anomaly of the mitral subvalvular apparatus False False False -Orphanet:101934 Genetic cardiac rhythm disease False False False -Orphanet:101936 Rare gastroesophageal disease False False False -Orphanet:101937 Rare pancreatic disease False False False -Orphanet:101938 Rare vascular liver disease False False False -Orphanet:101939 Rare parenchymal liver disease False False False -Orphanet:101940 Rare metabolic liver disease False False False -Orphanet:101941 Rare biliary tract disease False False False -Orphanet:101943 Rare hepatic and biliary tract tumor False False False -Orphanet:101944 Rare pulmonary disease False False False -Orphanet:101945 Rare bronchopulmonary tumor False False False -Orphanet:101950 Rare eye tumor False False False -Orphanet:101952 Rare diabetes mellitus False False False -Orphanet:101953 Rare dyslipidemia False False False -Orphanet:101954 Rare adrenal disease False False False -Orphanet:101955 Rare thyroid disease False False False -Orphanet:101956 Polyendocrinopathy False False False -Orphanet:101957 Pituitary deficiency False False False -Orphanet:101958 Primary adrenal insufficiency False False False -Orphanet:101959 Chronic primary adrenal insufficiency False False False -Orphanet:101960 Genetic chronic primary adrenal insufficiency False False False -Orphanet:101963 Acquired chronic primary adrenal insufficiency False False False -Orphanet:101972 Combined T and B cell immunodeficiency False False False -Orphanet:101977 Immunodeficiency predominantly affecting antibody production False False False -Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect False False False -Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity False False False -Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly False False False -Orphanet:101995 Periodic fever syndrome False False False -Orphanet:101997 Primary immunodeficiency False False False -Orphanet:101998 Rare epilepsy False False False -Orphanet:102 Multiple system atrophy False False False -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease False False False -Orphanet:102000 Medullar disease False False False -Orphanet:102002 Rare ataxia False False False -Orphanet:102003 Rare movement disorder False False False -Orphanet:102005 Brain inflammatory disease False False False -Orphanet:102006 Neurovascular malformation False False False -Orphanet:102009 Classic lissencephaly False False False -Orphanet:102010 Other syndrome with lissencephaly as a major feature False False False -Orphanet:102011 Lissencephaly type 3 False False False -Orphanet:102012 Pure hereditary spastic paraplegia False False False -Orphanet:102013 Complex hereditary spastic paraplegia False False False -Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy False False False -Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy False False False -Orphanet:102020 Autosomal monosomy False False False -Orphanet:102021 Rickettsial disease False False False -Orphanet:102022 Spotted fever rickettsiosis False False False -Orphanet:102023 Typhus-group rickettsiosis False False False -Orphanet:102024 Human herpesvirus 8-related disorder False False False -Orphanet:1021 Amaurosis-hypertrichosis syndrome False False False -Orphanet:102237 Unexplained periodic fever syndrome False False False -Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability False False False -Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability False False False -Orphanet:1023 Congenital generalized hypertrichosis, Ambras type False False False -Orphanet:102369 Rare syndromic intellectual disability False False False -Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent False False False -Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor False False False -Orphanet:1027 Autosomal recessive amelia False False False -Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation False False False -Orphanet:1028 Amelo-onycho-hypohidrotic syndrome False False False -Orphanet:1031 Enamel-renal syndrome False False False -Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria False False False -Orphanet:1037 Arthrogryposis multiplex congenita False False False -Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency False False False -Orphanet:103908 Congenital sodium diarrhea False False False -Orphanet:103909 Trehalase deficiency False False False -Orphanet:103910 Congenital enterocyte heparan sulfate deficiency False False False -Orphanet:103918 Tropical pancreatitis False False False -Orphanet:103919 Autoimmune pancreatitis False False False -Orphanet:103920 Undetermined colitis False False False -Orphanet:104 Leber hereditary optic neuropathy False False False -Orphanet:1040 Metaphyseal anadysplasia False False False -Orphanet:104004 Intestinal disease due to vitamin absorption anomaly False False False -Orphanet:104005 Intestinal disease due to fat malabsorption False False False -Orphanet:104006 Congenital intestinal disease due to an enzymatic defect False False False -Orphanet:104013 Metabolic disease with intestinal involvement False False False -Orphanet:104075 Adenocarcinoma of the small intestine False False False -Orphanet:104076 Leiomyosarcoma of small intestine False False False -Orphanet:104077 Myopathic intestinal pseudoobstruction False False False -Orphanet:104078 Unclassified intestinal pseudoobstruction False False False -Orphanet:1041 Hydrops fetalis False False False -Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome False False False -Orphanet:1047 Sideroblastic anemia False False False -Orphanet:1048 Isolated anencephaly/exencephaly False False False -Orphanet:105 Atresia of urethra False False False -Orphanet:1051 Ramos-Arroyo syndrome False False False -Orphanet:1052 Mosaic variegated aneuploidy syndrome False False False -Orphanet:1053 Vein of Galen aneurysmal malformation False False False -Orphanet:1054 Aneurysm of sinus of Valsalva False False False -Orphanet:1055 Congenital left ventricular aneurysm False False False -Orphanet:1059 Blue rubber bleb nevus False False False -Orphanet:1062 Hereditary neurocutaneous malformation False False False -Orphanet:1063 Tufted angioma False False False -Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome False False False -Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome False False False -Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome False False False -Orphanet:1068 Aniridia-intellectual disability syndrome False False False -Orphanet:1069 Aniridia-absent patella syndrome False False False -Orphanet:107 BOR syndrome False False False -Orphanet:1070 Anisakiasis False False False -Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome False False False -Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome False False False -Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome False False False -Orphanet:1077 Dental ankylosis False False False -Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome False False False -Orphanet:108 Babesiosis False False False -Orphanet:1081 Coronary artery congenital malformation False False False -Orphanet:1083 Microlissencephaly False False False -Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects False False False -Orphanet:108959 Non-syndromic esophageal malformation False False False -Orphanet:108961 Syndromic esophageal malformation False False False -Orphanet:108963 Non-syndromic gastroduodenal malformation False False False -Orphanet:108965 Syndromic gastroduodenal malformation False False False -Orphanet:108973 Syndromic visceral malformation False False False -Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation False False False -Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation False False False -Orphanet:108989 Non-syndromic central nervous system malformation False False False -Orphanet:108991 Syndrome with a central nervous system malformation as a major feature False False False -Orphanet:108993 Non-syndromic respiratory or mediastinal malformation False False False -Orphanet:108995 Syndromic respiratory or mediastinal malformation False False False -Orphanet:108997 Rare anemia False False False -Orphanet:108999 Rare disorder due to toxic effects False False False -Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome False False False -Orphanet:109007 Arthrogryposis syndrome False False False -Orphanet:109009 Syndrome with limb malformations as a major feature False False False -Orphanet:109011 Non-syndromic limb malformation False False False -Orphanet:1094 Anonychia-microcephaly syndrome False False False -Orphanet:11 Pentasomy X False False False -Orphanet:110 Bardet-Biedl syndrome False False False -Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome False False False -Orphanet:1104 Anophthalmia plus syndrome False False False -Orphanet:1106 Microphthalmia with limb anomalies False False False -Orphanet:111 Barth syndrome False False False -Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome False False False -Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome False False False -Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome False False False -Orphanet:1114 Aplasia cutis congenita False False False -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome False False False -Orphanet:1117 Aplasia cutis-myopia syndrome False False False -Orphanet:1118 Fibular aplasia-ectrodactyly syndrome False False False -Orphanet:112 Bartter syndrome False False False -Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome False False False -Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome False False False -Orphanet:1122 Ulnar hypoplasia-split foot syndrome False False False -Orphanet:1123 Caudal appendage-deafness syndrome False False False -Orphanet:1125 Ocular motor apraxia, Cogan type False False False -Orphanet:1126 Aprosencephaly cerebellar dysgenesis False False False -Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome False False False -Orphanet:113 Bazex-Dupré-Christol syndrome False False False -Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome False False False -Orphanet:1131 X-linked mandibulofacial dysostosis False False False -Orphanet:1132 Aortic arch defects False False False -Orphanet:1133 AREDYLD syndrome False False False -Orphanet:1134 Isolated arrhinia False False False -Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome False False False -Orphanet:1138 Abnormal origin of the pulmonary artery False False False -Orphanet:114 Auriculoosteodysplasia False False False -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita False False False -Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome False False False -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy False False False -Orphanet:1146 Distal arthrogryposis type 1 False False False -Orphanet:1147 Sheldon-Hall syndrome False False False -Orphanet:1149 Kuskokwim syndrome False False False -Orphanet:115 Congenital contractural arachnodactyly False False False -Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome False False False -Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome False False False -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood False False False -Orphanet:116 Beckwith-Wiedemann syndrome False False False -Orphanet:1160 Chylous ascites False False False -Orphanet:1163 Aspergillosis False False False -Orphanet:1164 Allergic bronchopulmonary aspergillosis False False False -Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris False False False -Orphanet:1168 Ataxia-oculomotor apraxia type 1 False False False -Orphanet:117 Behçet disease False False False -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 False False False -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome False False False -Orphanet:1172 Autosomal recessive cerebellar ataxia False False False -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome False False False -Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome False False False -Orphanet:1175 X-linked progressive cerebellar ataxia False False False -Orphanet:117569 Rare intestinal disease False False False -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes False False False -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome False False False -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia False False False -Orphanet:118 Beta-mannosidosis False False False -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome False False False -Orphanet:1182 Spastic ataxia with congenital miosis False False False -Orphanet:1183 Opsoclonus-myoclonus syndrome False False False -Orphanet:1184 Ataxia-photosensitivity-short stature syndrome False False False -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome False False False -Orphanet:1186 Infantile-onset spinocerebellar ataxia False False False -Orphanet:1187 Lethal ataxia with deafness and optic atrophy False False False -Orphanet:1188 Ataxia-deafness-intellectual disability syndrome False False False -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 False False False -Orphanet:1190 Atelosteogenesis type I False False False -Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome False False False -Orphanet:1193 Atkin-Flaitz syndrome False False False -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy False False False -Orphanet:1195 Congenital atransferrinemia False False False -Orphanet:1198 Colonic atresia False False False -Orphanet:1199 Esophageal atresia False False False -Orphanet:1200 Burn-McKeown syndrome False False False -Orphanet:1201 Small bowel atresia False False False -Orphanet:1202 Larynx atresia False False False -Orphanet:1203 Duodenal atresia False False False -Orphanet:1205 Mitral atresia False False False -Orphanet:1207 Pulmonary atresia with ventricular septal defect False False False -Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome False False False -Orphanet:1209 Tricuspid atresia False False False -Orphanet:1214 Progressive hemifacial atrophy False False False -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome False False False -Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy False False False -Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome False False False -Orphanet:122 Birt-Hogg-Dubé syndrome False False False -Orphanet:1221 Cheilitis glandularis False False False -Orphanet:1223 Balantidiasis False False False -Orphanet:1225 Baller-Gerold syndrome False False False -Orphanet:1226 Bamforth-Lazarus syndrome False False False -Orphanet:1227 Bangstad syndrome False False False -Orphanet:1228 Banki syndrome False False False -Orphanet:1229 Congenital intrauterine infection-like syndrome False False False -Orphanet:123 Björnstad syndrome False False False -Orphanet:1231 Barber-Say syndrome False False False -Orphanet:1234 Bartsocas-Papas syndrome False False False -Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome False False False -Orphanet:1237 Beemer-Ertbruggen syndrome False False False -Orphanet:124 Diamond-Blackfan anemia False False False -Orphanet:1240 Metaphyseal acroscyphodysplasia False False False -Orphanet:1241 Bencze syndrome False False False -Orphanet:1243 Best vitelliform macular dystrophy False False False -Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome False False False -Orphanet:1247 Schistosomiasis False False False -Orphanet:1248 Maxillonasal dysplasia False False False -Orphanet:125 Bloom syndrome False False False -Orphanet:1252 Blepharonasofacial malformation syndrome False False False -Orphanet:1253 Ascher syndrome False False False -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome False False False -Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome False False False -Orphanet:1261 Bonnemann-Meinecke-Reich syndrome False False False -Orphanet:1262 Böök syndrome False False False -Orphanet:1263 Boomerang dysplasia False False False -Orphanet:1264 Tricho-retino-dento-digital syndrome False False False -Orphanet:1267 Botulism False False False -Orphanet:127 Borjeson-Forssman-Lehmann syndrome False False False -Orphanet:1270 Bowen-Conradi syndrome False False False -Orphanet:1272 Aymé-Gripp syndrome False False False -Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome False False False -Orphanet:1276 Brachydactyly-arterial hypertension syndrome False False False -Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome False False False -Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome False False False -Orphanet:128 Diphyllobothriasis False False False -Orphanet:129 Pseudopelade of Brocq False False False -Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome False False False -Orphanet:1293 Brachyolmia False False False -Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome False False False -Orphanet:1296 Lambert syndrome False False False -Orphanet:1297 Branchio-oculo-facial syndrome False False False -Orphanet:1299 Branchioskeletogenital syndrome False False False -Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency False False False -Orphanet:130 Brugada syndrome False False False -Orphanet:1300 Autosomal dominant popliteal pterygium syndrome False False False -Orphanet:1302 Cryptogenic organizing pneumonia False False False -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease False False False -Orphanet:1304 Brucellosis False False False -Orphanet:1305 Feingold syndrome False False False -Orphanet:1307 Distal limb deficiencies-micrognathia syndrome False False False -Orphanet:1308 C syndrome False False False -Orphanet:1309 Medullary sponge kidney False False False -Orphanet:131 Budd-Chiari syndrome False False False -Orphanet:1310 Caffey disease False False False -Orphanet:1313 Infantile choroidocerebral calcification syndrome False False False -Orphanet:1314 Symmetrical thalamic calcifications False False False -Orphanet:1318 Campomelia, Cumming type False False False -Orphanet:1319 Camptobrachydactyly False False False -Orphanet:132 Butyrylcholinesterase deficiency False False False -Orphanet:1320 Idiopathic camptocormia False False False -Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome False False False -Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome False False False -Orphanet:1325 Camptodactyly-taurinuria syndrome False False False -Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 False False False -Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 False False False -Orphanet:1328 Camurati-Engelmann disease False False False -Orphanet:1329 Complete atrioventricular septal defect False False False -Orphanet:133 Chronic beryllium disease False False False -Orphanet:1330 Partial atrioventricular septal defect False False False -Orphanet:1331 Familial prostate cancer False False False -Orphanet:1332 Medullary thyroid carcinoma False False False -Orphanet:1333 Familial pancreatic carcinoma False False False -Orphanet:1334 Chronic mucocutaneous candidiasis False False False -Orphanet:1335 Pentalogy of Cantrell False False False -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome False False False -Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome False False False -Orphanet:134 Beta-ketothiolase deficiency False False False -Orphanet:1340 Cardiofaciocutaneous syndrome False False False -Orphanet:1342 Heart-hand syndrome type 3 False False False -Orphanet:1344 Atrial standstill False False False -Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome False False False -Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss False False False -Orphanet:135 CACH syndrome False False False -Orphanet:1350 Heart-hand syndrome type 2 False False False -Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome False False False -Orphanet:1354 Heart defects-limb shortening syndrome False False False -Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome False False False -Orphanet:1358 Carey-Fineman-Ziter syndrome False False False -Orphanet:1359 Carney complex False False False -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy False False False -Orphanet:1361 Carnosinase deficiency False False False -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia False False False -Orphanet:1368 Cataract-ataxia-deafness syndrome False False False -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome False False False -Orphanet:137 Congenital disorder of glycosylation False False False -Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome False False False -Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome False False False -Orphanet:137577 Neonatal hypoxic and ischemic brain injury False False False -Orphanet:137583 Vulvar intraepithelial neoplasia False False False -Orphanet:137593 Infectious epithelial keratitis False False False -Orphanet:137596 Neurotrophic keratopathy False False False -Orphanet:137599 Herpes simplex virus stromal keratitis False False False -Orphanet:137602 Corneal endotheliitis False False False -Orphanet:137605 Legius syndrome False False False -Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome False False False -Orphanet:137617 Nephrogenic systemic fibrosis False False False -Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome False False False -Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency False False False -Orphanet:137628 Cardiac anomalies-heterotaxy syndrome False False False -Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome False False False -Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome False False False -Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome False False False -Orphanet:137667 Capillary malformation-arteriovenous malformation False False False -Orphanet:137672 Pellucid marginal degeneration False False False -Orphanet:137675 Histiocytoid cardiomyopathy False False False -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening False False False -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 False False False -Orphanet:137686 Asherman syndrome False False False -Orphanet:1377 Cataract-microcornea syndrome False False False -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency False False False -Orphanet:137776 Lethal congenital contracture syndrome type 2 False False False -Orphanet:137783 Lethal congenital contracture syndrome type 3 False False False -Orphanet:137807 Primary cutaneous amyloidosis False False False -Orphanet:137810 Nodular cutaneous amyloidosis False False False -Orphanet:137814 Macular amyloidosis False False False -Orphanet:137817 Arachnoiditis False False False -Orphanet:137820 Extrapelvic endometriosis False False False -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome False False False -Orphanet:137834 Frank-Ter Haar syndrome False False False -Orphanet:137839 Lemierre syndrome False False False -Orphanet:137867 Madras motor neuron disease False False False -Orphanet:137888 Auriculocondylar syndrome False False False -Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa False False False -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome False False False -Orphanet:137905 Syndromic optic nerve hypoplasia False False False -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia False False False -Orphanet:137914 Choanal atresia False False False -Orphanet:137917 Choanal atresia, unilateral False False False -Orphanet:137920 Choanal atresia, bilateral False False False -Orphanet:137926 Primary laryngeal lymphangioma False False False -Orphanet:137929 Neonatal brainstem dysfunction False False False -Orphanet:137932 Congenital laryngeal palsy False False False -Orphanet:137935 Laryngotracheal angioma False False False -Orphanet:138 CHARGE syndrome False False False -Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome False False False -Orphanet:138041 Pierre Robin syndrome associated with collagen disease False False False -Orphanet:138044 Rare disease with Pierre Robin syndrome False False False -Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly False False False -Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies False False False -Orphanet:138055 Pierre Robin syndrome associated with bone disease False False False -Orphanet:138059 Teratogenic Pierre Robin syndrome False False False -Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome False False False -Orphanet:1383 Cataract-deafness-hypogonadism syndrome False False False -Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome False False False -Orphanet:1388 Catel-Manzke syndrome False False False -Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome False False False -Orphanet:139 CHILD syndrome False False False -Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome False False False -Orphanet:139009 Developmental anomaly of metabolic origin False False False -Orphanet:139012 Rare bone development disorder False False False -Orphanet:139021 Malformation syndrome with short stature False False False -Orphanet:139024 Overgrowth/obesity syndrome False False False -Orphanet:139027 Rare developmental defect with skin/mucosae involvement False False False -Orphanet:139030 Rare developmental defect with connective tissue involvement False False False -Orphanet:139033 Progeroid syndrome False False False -Orphanet:139036 Branchial arch or oral-acral syndrome False False False -Orphanet:139039 Orofacial clefting syndrome False False False -Orphanet:139042 Malformation syndrome with odontal and/or periodontal component False False False -Orphanet:1393 Cerebrocostomandibular syndrome False False False -Orphanet:139390 Non-syndromic craniosynostosis False False False -Orphanet:139393 Syndromic craniosynostosis False False False -Orphanet:139396 X-linked cerebral adrenoleukodystrophy False False False -Orphanet:139399 Adrenomyeloneuropathy False False False -Orphanet:1394 Cerebrofaciothoracic dysplasia False False False -Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms False False False -Orphanet:139406 Encephalopathy due to prosaposin deficiency False False False -Orphanet:139411 Carney triad False False False -Orphanet:139414 Congenital panfollicular nevus False False False -Orphanet:139417 Acute transverse myelitis False False False -Orphanet:139423 Idiopathic acute transverse myelitis False False False -Orphanet:139426 Perioral myoclonia with absences False False False -Orphanet:139431 Jeavons syndrome False False False -Orphanet:139436 Multicentric reticulohistiocytosis False False False -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum False False False -Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts False False False -Orphanet:139447 Progressive cavitating leukoencephalopathy False False False -Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome False False False -Orphanet:139455 Autosomal recessive bestrophinopathy False False False -Orphanet:139466 SERKAL syndrome False False False -Orphanet:139471 Microphthalmia with brain and digit anomalies False False False -Orphanet:139474 17q11.2 microduplication syndrome False False False -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 False False False -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency False False False -Orphanet:139507 Dietary iron overload disease False False False -Orphanet:139512 Neuropathy with hearing impairment False False False -Orphanet:139515 Charcot-Marie-Tooth disease type 4J False False False -Orphanet:139518 Distal hereditary motor neuropathy type 1 False False False -Orphanet:139525 Distal hereditary motor neuropathy type 2 False False False -Orphanet:139536 Distal hereditary motor neuropathy type 5 False False False -Orphanet:139547 Distal spinal muscular atrophy type 3 False False False -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type False False False -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 False False False -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B False False False -Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay False False False -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia False False False -Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness False False False -Orphanet:139589 Distal hereditary motor neuropathy type 7 False False False -Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome False False False -Orphanet:1398 Isolated cerebellar agenesis False False False -Orphanet:1399 Richards-Rundle syndrome False False False -Orphanet:14 Abetalipoproteinemia False False False -Orphanet:140 Campomelic dysplasia False False False -Orphanet:1401 CHAND syndrome False False False -Orphanet:140162 Inherited cancer-predisposing syndrome False False False -Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion False False False -Orphanet:140436 Primary intraosseous venous malformation False False False -Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy False False False -Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy False False False -Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy False False False -Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy False False False -Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy False False False -Orphanet:140471 Hereditary sensory and autonomic neuropathy False False False -Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy False False False -Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy False False False -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity False False False -Orphanet:1406 Charlie M syndrome False False False -Orphanet:140653 Neuro-ophthalmological disease False False False -Orphanet:140874 Joubert syndrome and related disorders False False False -Orphanet:140896 Severe acute respiratory syndrome False False False -Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency False False False -Orphanet:140908 Brachydactyly type B2 False False False -Orphanet:140917 Stapes ankylosis with broad thumbs and toes False False False -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 False False False -Orphanet:140927 Benign familial neonatal-infantile seizures False False False -Orphanet:140933 Linear atrophoderma of Moulin False False False -Orphanet:140936 Lelis syndrome False False False -Orphanet:140941 Short stature due to primary acid-labile subunit deficiency False False False -Orphanet:140944 CLOVES syndrome False False False -Orphanet:140949 Low-flow priapism False False False -Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome False False False -Orphanet:140957 Autosomal dominant macrothrombocytopenia False False False -Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome False False False -Orphanet:140966 Palmoplantar keratoderma, Nagashima type False False False -Orphanet:140969 Saldino-Mainzer syndrome False False False -Orphanet:140976 RHYNS syndrome False False False -Orphanet:140989 Primary angiitis of the central nervous system False False False -Orphanet:140997 Orofaciodigital syndrome False False False -Orphanet:141 Canavan disease False False False -Orphanet:1410 Uncombable hair syndrome False False False -Orphanet:141000 Orofaciodigital syndrome type 11 False False False -Orphanet:141007 Orofaciodigital syndrome type 9 False False False -Orphanet:141013 First branchial cleft anomaly False False False -Orphanet:141022 Second branchial cleft anomaly False False False -Orphanet:141030 Third branchial cleft anomaly False False False -Orphanet:141037 Fourth branchial cleft anomaly False False False -Orphanet:141046 Cervical dermoid cyst False False False -Orphanet:141051 Facial dermoid cyst False False False -Orphanet:141061 Commissural lip fistula False False False -Orphanet:141064 Lower lip fistula False False False -Orphanet:141067 Cervicofacial fibrochondroma False False False -Orphanet:141071 Digestive duplication cyst of the tongue False False False -Orphanet:141074 External auditory canal aplasia/hypoplasia False False False -Orphanet:141077 Epignathus False False False -Orphanet:141083 Nasolacrimal duct cyst False False False -Orphanet:141091 Polyrrhinia False False False -Orphanet:141096 Supernumerary nostril False False False -Orphanet:141099 Proboscis lateralis False False False -Orphanet:141103 Nasal dermoid cyst False False False -Orphanet:141107 Nasopharyngeal teratoma False False False -Orphanet:141112 Nasal glial heterotopia False False False -Orphanet:141115 Nasal ganglioglioma False False False -Orphanet:141118 Nasal encephalocele False False False -Orphanet:141121 Congenital subglottic stenosis False False False -Orphanet:141124 Congenital laryngeal cyst False False False -Orphanet:141127 Congenital tracheal stenosis False False False -Orphanet:141132 Oculo-auriculo-vertebral spectrum False False False -Orphanet:141145 Hemifacial hyperplasia False False False -Orphanet:141148 Hemifacial myohyperplasia False False False -Orphanet:141152 Isolated congenital hypoglossia/aglossia False False False -Orphanet:141163 Glossopalatine ankylosis False False False -Orphanet:141168 Frontonasal arteriovenous malformation False False False -Orphanet:141171 Maxillary arteriovenous malformation False False False -Orphanet:141174 Mandibular arteriovenous malformation False False False -Orphanet:141179 Non-involuting congenital hemangioma False False False -Orphanet:141184 Rapidly involuting congenital hemangioma False False False -Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome False False False -Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 False False False -Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 False False False -Orphanet:1412 Tarsal-carpal coalition syndrome False False False -Orphanet:141209 Diffuse lymphatic malformation False False False -Orphanet:141214 Isolated congenital syngnathia False False False -Orphanet:141219 Nasal dorsum fistula False False False -Orphanet:141229 Facial cleft False False False -Orphanet:141234 Median facial cleft False False False -Orphanet:141239 Median cleft of the upper lip and maxilla False False False -Orphanet:141242 Paramedian nasal cleft False False False -Orphanet:141253 Oblique facial cleft False False False -Orphanet:141258 Tessier number 4 facial cleft False False False -Orphanet:141261 Tessier number 5 facial cleft False False False -Orphanet:141265 Tessier number 6 facial cleft False False False -Orphanet:141269 Lateral facial cleft False False False -Orphanet:141276 Tessier number 7 facial cleft False False False -Orphanet:141288 Midline cervical cleft False False False -Orphanet:141291 Cleft lip and alveolus False False False -Orphanet:141327 Orofaciodigital syndrome type 12 False False False -Orphanet:141330 Orofaciodigital syndrome type 13 False False False -Orphanet:141333 Biemond syndrome type 2 False False False -Orphanet:1414 Cholestasis-lymphedema syndrome False False False -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome False False False -Orphanet:1416 Familial calcium pyrophosphate deposition False False False -Orphanet:142 Anaplastic thyroid carcinoma False False False -Orphanet:1422 Chondrodysplasia-difference of sex development syndrome False False False -Orphanet:1423 Lethal recessive chondrodysplasia False False False -Orphanet:1425 Desbuquois syndrome False False False -Orphanet:1426 Greenberg dysplasia False False False -Orphanet:1427 Otospondylomegaepiphyseal dysplasia False False False -Orphanet:1429 Benign hereditary chorea False False False -Orphanet:143 Parathyroid carcinoma False False False -Orphanet:1431 Paroxysmal dyskinesia False False False -Orphanet:1433 Choroidal atrophy-alopecia syndrome False False False -Orphanet:1435 Xq21 microdeletion syndrome False False False -Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome False False False -Orphanet:1437 Ring chromosome 1 syndrome False False False -Orphanet:1438 Ring chromosome 10 syndrome False False False -Orphanet:1439 Ring chromosome 12 syndrome False False False -Orphanet:144 Lynch syndrome False False False -Orphanet:1440 Ring chromosome 14 syndrome False False False -Orphanet:1441 Ring chromosome 17 syndrome False False False -Orphanet:1442 Ring chromosome 18 syndrome False False False -Orphanet:1443 Ring chromosome 19 syndrome False False False -Orphanet:1444 Ring chromosome 20 syndrome False False False -Orphanet:1445 Ring chromosome 21 syndrome False False False -Orphanet:1446 Ring chromosome 22 syndrome False False False -Orphanet:1447 Ring chromosome 4 syndrome False False False -Orphanet:1448 Ring chromosome 6 syndrome False False False -Orphanet:1449 Ring chromosome 7 syndrome False False False -Orphanet:145 Hereditary breast and/or ovarian cancer syndrome False False False -Orphanet:1450 Ring chromosome 8 syndrome False False False -Orphanet:1451 CINCA syndrome False False False -Orphanet:1452 Cleidocranial dysplasia False False False -Orphanet:1453 Cleidorhizomelic syndrome False False False -Orphanet:1454 Joubert syndrome with hepatic defect False False False -Orphanet:1455 Autosomal dominant coarctation of aorta False False False -Orphanet:1456 Atypical coarctation of aorta False False False -Orphanet:1457 Aorta coarctation False False False -Orphanet:1458 CODAS syndrome False False False -Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome False False False -Orphanet:146 Differentiated thyroid carcinoma False False False -Orphanet:1460 Isolated complex III deficiency False False False -Orphanet:1461 Criss-cross heart False False False -Orphanet:1463 Triatrial heart False False False -Orphanet:1464 Univentricular heart False False False -Orphanet:1465 Coffin-Siris syndrome False False False -Orphanet:1466 COFS syndrome False False False -Orphanet:1467 Cogan syndrome False False False -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency False False False -Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome False False False -Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability False False False -Orphanet:1475 Renal coloboma syndrome False False False -Orphanet:1478 Interatrial communication False False False -Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome False False False -Orphanet:148 Multiple carboxylase deficiency False False False -Orphanet:1482 Gonococcal conjunctivitis False False False -Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome False False False -Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form False False False -Orphanet:1486 Lethal congenital contracture syndrome type 1 False False False -Orphanet:1487 Cooks syndrome False False False -Orphanet:1488 Cooper-Jabs syndrome False False False -Orphanet:1489 Whooping cough False False False -Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome False False False -Orphanet:1493 Vici syndrome False False False -Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome False False False -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome False False False -Orphanet:1497 X-linked complicated corpus callosum dysgenesis False False False -Orphanet:15 Achondroplasia False False False -Orphanet:150 Nasopharyngeal carcinoma False False False -Orphanet:1501 Adrenocortical carcinoma False False False -Orphanet:1505 Short rib-polydactyly syndrome False False False -Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome False False False -Orphanet:1507 Autosomal recessive Robinow syndrome False False False -Orphanet:1508 Coxoauricular syndrome False False False -Orphanet:1509 Coxopodopatellar syndrome False False False -Orphanet:1512 Crane-Heise syndrome False False False -Orphanet:1513 Craniodiaphyseal dysplasia False False False -Orphanet:1514 Craniodigital-intellectual disability syndrome False False False -Orphanet:1515 Cranioectodermal dysplasia False False False -Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis False False False -Orphanet:1517 Cantú syndrome False False False -Orphanet:1519 SPECC1L-related hypertelorism syndrome False False False -Orphanet:1520 Craniofrontonasal dysplasia False False False -Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome False False False -Orphanet:1522 Craniometaphyseal dysplasia False False False -Orphanet:1524 Craniomicromelic syndrome False False False -Orphanet:1525 Cranio-osteoarthropathy False False False -Orphanet:1527 Craniosynostosis, Philadelphia type False False False -Orphanet:1528 Craniotelencephalic dysplasia False False False -Orphanet:1529 Craniofacial-deafness-hand syndrome False False False -Orphanet:1531 Craniosynostosis False False False -Orphanet:1532 Gómez-López-Hernández syndrome False False False -Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome False False False -Orphanet:154 Familial isolated dilated cardiomyopathy False False False -Orphanet:1540 Jackson-Weiss syndrome False False False -Orphanet:1541 Craniosynostosis, Boston type False False False -Orphanet:1544 Benign focal seizures of adolescence False False False -Orphanet:1545 Crisponi syndrome False False False -Orphanet:1546 Cryptococcosis False False False -Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome False False False -Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome False False False -Orphanet:1551 Familial benign copper deficiency False False False -Orphanet:1552 Currarino syndrome False False False -Orphanet:1553 Curry-Jones syndrome False False False -Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome False False False -Orphanet:1556 Cutis marmorata telangiectatica congenita False False False -Orphanet:155832 Rare head and neck malformation False False False -Orphanet:155835 Cysts and fistulae of the face and oral cavity False False False -Orphanet:155838 Pinnae fistula or cyst False False False -Orphanet:155867 Paramedian facial cleft False False False -Orphanet:155878 Submucosal cleft palate False False False -Orphanet:155884 Coloboma of superior eyelid False False False -Orphanet:155889 Coloboma of inferior eyelid False False False -Orphanet:155896 Otomandibular dysplasia False False False -Orphanet:155899 Mandibulofacial dysostosis False False False -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency False False False -Orphanet:1560 Cysticercosis False False False -Orphanet:156005 Primary early-onset glaucoma False False False -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency False False False -Orphanet:156140 Predominantly large-vessel vasculitis False False False -Orphanet:156143 Predominantly medium-vessel vasculitis False False False -Orphanet:156146 Predominantly small-vessel vasculitis False False False -Orphanet:156149 Immune complex mediated vasculitis False False False -Orphanet:156159 Isolated dystonia False False False -Orphanet:156162 Renal ciliopathy False False False -Orphanet:156165 Retinal ciliopathy False False False -Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene False False False -Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene False False False -Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene False False False -Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene False False False -Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene False False False -Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene False False False -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome False False False -Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes False False False -Orphanet:156207 Macroglossia False False False -Orphanet:156212 Hypoglossia/aglossia False False False -Orphanet:156215 Oromandibular-limb anomalies syndrome False False False -Orphanet:156224 Paralytic facial malformation False False False -Orphanet:156230 Facial arteriovenous malformation False False False -Orphanet:156237 Syndrome or malformation associated with head and neck malformations False False False -Orphanet:156243 Pinnae and external auditory canal anomaly False False False -Orphanet:156246 Nose and cavum anomaly False False False -Orphanet:156249 Larynx anomaly False False False -Orphanet:156252 Tracheal anomaly False False False -Orphanet:1563 Dahlberg-Borer-Newcomer syndrome False False False -Orphanet:156532 Rare syndrome with cardiac malformations False False False -Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome False False False -Orphanet:156601 Rare genetic hepatic disease False False False -Orphanet:156604 Genetic parenchymatous liver disease False False False -Orphanet:156607 Genetic biliary tract disease False False False -Orphanet:156610 Rare genetic respiratory disease False False False -Orphanet:156619 Rare genetic urogenital disease False False False -Orphanet:156622 Genetic urogenital tract malformation False False False -Orphanet:156629 Rare genetic cause of hypertension False False False -Orphanet:156638 Rare genetic endocrine disease False False False -Orphanet:156643 Genetic endocrine growth disease False False False -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type False False False -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type False False False -Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome False False False -Orphanet:157 Carnitine palmitoyltransferase II deficiency False False False -Orphanet:1570 Symbrachydactyly of hands and feet False False False -Orphanet:1571 Knobloch syndrome False False False -Orphanet:1572 Common variable immunodeficiency False False False -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria False False False -Orphanet:1573 Hypotrichosis with juvenile macular degeneration False False False -Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome False False False -Orphanet:1576 Infantile bilateral striatal necrosis False False False -Orphanet:157713 Congenital or early infantile CACH syndrome False False False -Orphanet:157716 Late infantile CACH syndrome False False False -Orphanet:157719 Juvenile or adult CACH syndrome False False False -Orphanet:157769 Situs ambiguus False False False -Orphanet:157791 Epithelioid hemangioendothelioma False False False -Orphanet:157794 Hereditary mixed polyposis syndrome False False False -Orphanet:157798 Serrated polyposis syndrome False False False -Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency False False False -Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction False False False -Orphanet:157808 Congenital pseudoarthrosis of the limbs False False False -Orphanet:157820 Cold-induced sweating syndrome False False False -Orphanet:157823 Klüver-Bucy syndrome False False False -Orphanet:157826 Congenital epulis False False False -Orphanet:157832 Craniorhiny False False False -Orphanet:157835 Paroxysmal hemicrania False False False -Orphanet:157843 Trigeminal autonomic cephalalgia False False False -Orphanet:157846 Neuroferritinopathy False False False -Orphanet:157850 Pantothenate kinase-associated neurodegeneration False False False -Orphanet:157941 Huntington disease-like 1 False False False -Orphanet:157946 Huntington disease-like 3 False False False -Orphanet:157949 Combined immunodeficiency with granulomatosis False False False -Orphanet:157954 ANE syndrome False False False -Orphanet:157962 Oculoauricular syndrome, Schorderet type False False False -Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome False False False -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation False False False -Orphanet:157987 Non-Langerhans cell histiocytosis False False False -Orphanet:157991 Generalized eruptive histiocytosis False False False -Orphanet:157997 Benign cephalic histiocytosis False False False -Orphanet:158 Systemic primary carnitine deficiency False False False -Orphanet:1580 Distal deletion 10p False False False -Orphanet:158000 Juvenile xanthogranuloma False False False -Orphanet:158003 Xanthoma disseminatum False False False -Orphanet:158008 Papular xanthoma False False False -Orphanet:158011 Necrobiotic xanthogranuloma False False False -Orphanet:158014 Rosaï-Dorfman disease False False False -Orphanet:158019 Indeterminate cell histiocytosis False False False -Orphanet:158022 Progressive nodular histiocytosis False False False -Orphanet:158025 Hereditary progressive mucinous histiocytosis False False False -Orphanet:158029 Sea-blue histiocytosis False False False -Orphanet:158032 Hemophagocytic syndrome False False False -Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis False False False -Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease False False False -Orphanet:158061 Macrophage activation syndrome False False False -Orphanet:1581 Non-distal deletion 10q False False False -Orphanet:158124 Genetic dementia False False False -Orphanet:158266 Huntington disease-like syndrome False False False -Orphanet:158300 Rare genetic hematologic disease False False False -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome False False False -Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form False False False -Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only False False False -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema False False False -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia False False False -Orphanet:158687 Lethal acantholytic erosive disorder False False False -Orphanet:1587 Monosomy 13q14 False False False -Orphanet:158766 Typical urticaria pigmentosa False False False -Orphanet:158769 Plaque-form urticaria pigmentosa False False False -Orphanet:158772 Nodular urticaria pigmentosa False False False -Orphanet:158775 Smoldering systemic mastocytosis False False False -Orphanet:158778 Isolated bone marrow mastocytosis False False False -Orphanet:159 Carnitine-acylcarnitine translocase deficiency False False False -Orphanet:1590 Distal deletion 13q False False False -Orphanet:1596 Distal deletion 15q False False False -Orphanet:1597 Distal deletion 17q False False False -Orphanet:1598 Monosomy 18p False False False -Orphanet:16 Blue cone monochromatism False False False -Orphanet:160 Castleman disease False False False -Orphanet:1600 Monosomy 18q False False False -Orphanet:160148 Cap polyposis False False False -Orphanet:1606 1p36 deletion syndrome False False False -Orphanet:1617 2q24 microdeletion syndrome False False False -Orphanet:162 Cataract-glaucoma syndrome False False False -Orphanet:1620 Distal deletion 3p False False False -Orphanet:1621 3q13 microdeletion syndrome False False False -Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis False False False -Orphanet:162526 Isolated congenital auditory ossicle malformation False False False -Orphanet:1627 Deletion 5q35 False False False -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome False False False -Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration False False False -Orphanet:163525 Subacute cutaneous lupus erythematosus False False False -Orphanet:163531 Chronic cutaneous lupus erythematosus False False False -Orphanet:163582 Rare bacterial infectious disease False False False -Orphanet:163585 Rare viral disease False False False -Orphanet:163588 Rare parasitic disease False False False -Orphanet:163591 Rare mycosis False False False -Orphanet:163596 Hb Bart's hydrops fetalis False False False -Orphanet:1636 Distal monosomy 7q36 False False False -Orphanet:163634 Maffucci syndrome False False False -Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium False False False -Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome False False False -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome False False False -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type False False False -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type False False False -Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type False False False -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy False False False -Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome False False False -Orphanet:163690 Hypotonia-cystinuria syndrome False False False -Orphanet:163693 2p21 microdeletion syndrome False False False -Orphanet:163696 Action myoclonus-renal failure syndrome False False False -Orphanet:163699 Alveolar soft tissue sarcoma False False False -Orphanet:163703 Febrile infection-related epilepsy syndrome False False False -Orphanet:163708 Cryptogenic late-onset epileptic spasms False False False -Orphanet:163717 Benign familial mesial temporal lobe epilepsy False False False -Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome False False False -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome False False False -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease False False False -Orphanet:163921 Posttransplant acute limbic encephalitis False False False -Orphanet:163927 Pustulosis palmaris et plantaris False False False -Orphanet:163931 Acrodermatitis continua of Hallopeau False False False -Orphanet:163934 Atopic keratoconjunctivitis False False False -Orphanet:163937 X-linked intellectual disability, Najm type False False False -Orphanet:163956 X-linked intellectual disability, Nascimento type False False False -Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome False False False -Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type False False False -Orphanet:163971 X-linked intellectual disability, Cilliers type False False False -Orphanet:163976 X-linked intellectual disability, Van Esch type False False False -Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome False False False -Orphanet:163985 Hyperekplexia-epilepsy syndrome False False False -Orphanet:164001 Rare odontal or periodontal disorder False False False -Orphanet:164004 Middle and/or inner ear anomaly False False False -Orphanet:1642 Distal deletion 9p False False False -Orphanet:1643 Xp22.3 microdeletion syndrome False False False -Orphanet:1646 Partial chromosome Y deletion False False False -Orphanet:1647 Oculocerebrocutaneous syndrome False False False -Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation False False False -Orphanet:164736 Familial advanced sleep-phase syndrome False False False -Orphanet:165 Neutral lipid storage disease False False False -Orphanet:1652 Dent disease False False False -Orphanet:1653 Dentin dysplasia False False False -Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome False False False -Orphanet:1656 Dermatitis herpetiformis False False False -Orphanet:165652 Rare genetic gastroenterological disease False False False -Orphanet:165655 Genetic intestinal disease False False False -Orphanet:165658 Genetic gastro-esophageal disease False False False -Orphanet:165661 Genetic pancreatic disease False False False -Orphanet:1657 Dermatoosteolysis, Kirghizian type False False False -Orphanet:165707 Syndromic urogenital tract malformation False False False -Orphanet:165711 Rare abdominal surgical disease False False False -Orphanet:1658 Absence of fingerprints-congenital milia syndrome False False False -Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures False False False -Orphanet:1659 Dermatoleukodystrophy False False False -Orphanet:165955 Wound myiasis False False False -Orphanet:165958 Cavitary myiasis False False False -Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism False False False -Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism False False False -Orphanet:165991 Exercise-induced hyperinsulinism False False False -Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy False False False -Orphanet:1660 Dermoodontodysplasia False False False -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly False False False -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type False False False -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type False False False -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type False False False -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia False False False -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses False False False -Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome False False False -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type False False False -Orphanet:166063 Pontocerebellar hypoplasia type 4 False False False -Orphanet:166073 Pontocerebellar hypoplasia type 6 False False False -Orphanet:166078 Von Willebrand disease type 1 False False False -Orphanet:166081 Von Willebrand disease type 2 False False False -Orphanet:166084 Von Willebrand disease type 2A False False False -Orphanet:166087 Von Willebrand disease type 2B False False False -Orphanet:166090 Von Willebrand disease type 2M False False False -Orphanet:166093 Von Willebrand disease type 2N False False False -Orphanet:166096 Von Willebrand disease type 3 False False False -Orphanet:1661 X-linked corneal dermoid False False False -Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia False False False -Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy False False False -Orphanet:166108 Intellectual disability, Birk-Barel type False False False -Orphanet:166113 Bazex syndrome False False False -Orphanet:166119 Isolated osteopoikilosis False False False -Orphanet:1662 Restrictive dermopathy False False False -Orphanet:166260 Dentinogenesis imperfecta type 2 False False False -Orphanet:166265 Dentinogenesis imperfecta type 3 False False False -Orphanet:166272 Odontochondrodysplasia False False False -Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia False False False -Orphanet:166282 Familial sick sinus syndrome False False False -Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus False False False -Orphanet:166291 Dirofilariasis False False False -Orphanet:166295 Benign non-familial infantile seizures False False False -Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures False False False -Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy False False False -Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis False False False -Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep False False False -Orphanet:166311 Benign partial infantile seizures False False False -Orphanet:166409 Photosensitive epilepsy False False False -Orphanet:166412 Hot water reflex epilepsy False False False -Orphanet:166415 Audiogenic seizures False False False -Orphanet:166418 Eating reflex epilepsy False False False -Orphanet:166421 Orgasm-induced seizures False False False -Orphanet:166424 Thinking seizures False False False -Orphanet:166427 Startle epilepsy False False False -Orphanet:166430 Micturation-induced seizures False False False -Orphanet:166433 Reading seizures False False False -Orphanet:166463 Epilepsy syndrome False False False -Orphanet:166466 Neurocutaneous syndrome with epilepsy False False False -Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature False False False -Orphanet:166472 Monogenic disease with epilepsy False False False -Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes False False False -Orphanet:166478 Cerebral malformation with epilepsy False False False -Orphanet:166481 Metabolic diseases with epilepsy False False False -Orphanet:166484 Inflammatory and autoimmune disease with epilepsy False False False -Orphanet:166487 Cerebral diseases of vascular origin with epilepsy False False False -Orphanet:166490 Infectious disease with epilepsy False False False -Orphanet:1665 Sporadic fetal brain disruption sequence False False False -Orphanet:1666 Dextrocardia False False False -Orphanet:1667 Wolcott-Rallison syndrome False False False -Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect False False False -Orphanet:167 Chédiak-Higashi syndrome False False False -Orphanet:1670 Chronic diarrhea with villous atrophy False False False -Orphanet:1671 Split cord malformation type I False False False -Orphanet:1672 Diencephalic syndrome False False False -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency False False False -Orphanet:1676 Idiopathic pulmonary artery dilatation False False False -Orphanet:167635 Scleromyxedema False False False -Orphanet:1677 Familial idiopathic dilatation of the right atrium False False False -Orphanet:167759 Hereditary dentin defect False False False -Orphanet:167762 Rare disease with dentinogenesis imperfecta False False False -Orphanet:167848 Rare cardiomyopathy False False False -Orphanet:1679 Diphtheria False False False -Orphanet:168 Loose anagen syndrome False False False -Orphanet:1681 Diprosopus False False False -Orphanet:168194 Rare cardiac tumor False False False -Orphanet:1682 Arterial dissection-lentiginosis syndrome False False False -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome False False False -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome False False False -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type False False False -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis False False False -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis False False False -Orphanet:1685 Distomatosis False False False -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type False False False -Orphanet:168549 Axial spondylometaphyseal dysplasia False False False -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome False False False -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type False False False -Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency False False False -Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome False False False -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 False False False -Orphanet:168569 H syndrome False False False -Orphanet:168572 Native American myopathy False False False -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin False False False -Orphanet:168583 Hereditary North American Indian childhood cirrhosis False False False -Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency False False False -Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome False False False -Orphanet:168598 Methionine adenosyltransferase I/III deficiency False False False -Orphanet:1686 Cardiac diverticulum False False False -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency False False False -Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements False False False -Orphanet:168612 Congenital deficiency in alpha-fetoprotein False False False -Orphanet:168615 Hereditary persistence of alpha-fetoprotein False False False -Orphanet:168621 Dysplasia of head of femur, Meyer type False False False -Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type False False False -Orphanet:168629 Autosomal thrombocytopenia with normal platelets False False False -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome False False False -Orphanet:168778 Rare pervasive developmental disorder False False False -Orphanet:168782 Childhood disintegrative disorder False False False -Orphanet:168796 Heart-hand syndrome, Slovenian type False False False -Orphanet:168803 Primary peritoneal tumor False False False -Orphanet:168811 Malignant peritoneal mesothelioma False False False -Orphanet:168816 Peritoneal cystic mesothelioma False False False -Orphanet:168829 Primary peritoneal carcinoma False False False -Orphanet:168940 Chronic eosinophilic leukemia False False False -Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement False False False -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement False False False -Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement False False False -Orphanet:168960 Refractory anemia with excess blasts in transformation False False False -Orphanet:168966 Composite lymphoma False False False -Orphanet:168984 CLAPO syndrome False False False -Orphanet:168999 Malignant melanoma of the mucosa False False False -Orphanet:169 Ringed hair disease False False False -Orphanet:169079 Cernunnos-XLF deficiency False False False -Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency False False False -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation False False False -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction False False False -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency False False False -Orphanet:169100 Immunodeficiency due to CD25 deficiency False False False -Orphanet:169105 Good syndrome False False False -Orphanet:169110 Immunoglobulin heavy chain deficiency False False False -Orphanet:169139 Transient hypogammaglobulinemia of infancy False False False -Orphanet:169142 Recurrent infection due to specific granule deficiency False False False -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency False False False -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency False False False -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency False False False -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency False False False -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta False False False -Orphanet:169163 Familial scaphocephaly syndrome False False False -Orphanet:169186 Autosomal recessive centronuclear myopathy False False False -Orphanet:169189 Autosomal dominant centronuclear myopathy False False False -Orphanet:1692 Mosaic trisomy 1 False False False -Orphanet:169349 Immuno-osseous dysplasia False False False -Orphanet:169361 Immune dysregulation disease with immunodeficiency False False False -Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells False False False -Orphanet:169464 Primary CD59 deficiency False False False -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency False False False -Orphanet:1695 Non-distal duplication 10q False False False -Orphanet:169793 Severe hemophilia B False False False -Orphanet:169796 Moderate hemophilia B False False False -Orphanet:169799 Mild hemophilia B False False False -Orphanet:1698 Mosaic trisomy 12 False False False -Orphanet:169802 Severe hemophilia A False False False -Orphanet:169805 Moderate hemophilia A False False False -Orphanet:169808 Mild hemophilia A False False False -Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency False False False -Orphanet:1699 Trisomy 12p False False False -Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria False False False -Orphanet:170 Woolly hair False False False -Orphanet:1702 Non-distal duplication 13q False False False -Orphanet:1703 Mosaic trisomy 14 False False False -Orphanet:1705 Distal duplication 14q False False False -Orphanet:1706 Mosaic trisomy 15 False False False -Orphanet:1707 Distal duplication 15q False False False -Orphanet:1708 Mosaic trisomy 16 False False False -Orphanet:171 Primary sclerosing cholangitis False False False -Orphanet:1711 Mosaic trisomy 17 False False False -Orphanet:171220 Rectal duplication False False False -Orphanet:1713 17p11.2 microduplication syndrome False False False -Orphanet:171430 Severe congenital nemaline myopathy False False False -Orphanet:171433 Intermediate nemaline myopathy False False False -Orphanet:171436 Typical nemaline myopathy False False False -Orphanet:171439 Childhood-onset nemaline myopathy False False False -Orphanet:171442 Adult-onset nemaline myopathy False False False -Orphanet:171445 Muscle filaminopathy False False False -Orphanet:1715 Trisomy 18p False False False -Orphanet:1716 Distal duplication 18q False False False -Orphanet:171607 X-linked spastic paraplegia type 34 False False False -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 False False False -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 False False False -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 False False False -Orphanet:171629 Autosomal recessive spastic paraplegia type 35 False False False -Orphanet:171673 Limbal stem cell deficiency False False False -Orphanet:171680 Lissencephaly due to TUBA1A mutation False False False -Orphanet:171684 Idiopathic bilateral vestibulopathy False False False -Orphanet:171690 Metabolic myopathy due to lactate transporter defect False False False -Orphanet:171695 Parkinsonian-pyramidal syndrome False False False -Orphanet:1717 Distal duplication 19q False False False -Orphanet:171700 Diffuse panbronchiolitis False False False -Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome False False False -Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency False False False -Orphanet:171709 Male infertility due to globozoospermia False False False -Orphanet:171719 Cutis laxa-Marfanoid syndrome False False False -Orphanet:171723 White sponge nevus False False False -Orphanet:171829 6q16 microdeletion syndrome False False False -Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome False False False -Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome False False False -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome False False False -Orphanet:171851 MEDNIK syndrome False False False -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 False False False -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type False False False -Orphanet:171871 Renal pseudohypoaldosteronism type 1 False False False -Orphanet:171876 Generalized pseudohypoaldosteronism type 1 False False False -Orphanet:171881 Cap myopathy False False False -Orphanet:171886 Cylindrical spirals myopathy False False False -Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays False False False -Orphanet:171929 Trisomy 10p False False False -Orphanet:172 Progressive familial intrahepatic cholestasis False False False -Orphanet:1723 Mosaic trisomy 2 False False False -Orphanet:1724 Mosaic trisomy 20 False False False -Orphanet:1727 22q11.2 duplication syndrome False False False -Orphanet:172976 Congenital myopathy with cores False False False -Orphanet:173 Cholera False False False -Orphanet:1738 Trisomy 4p False False False -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type False False False -Orphanet:1742 Trisomy 5p False False False -Orphanet:1745 Distal duplication 6p False False False -Orphanet:174590 Congenital hypogonadotropic hypogonadism False False False -Orphanet:1747 Mosaic trisomy 7 False False False -Orphanet:175 Cartilage-hair hypoplasia False False False -Orphanet:1752 Trisomy 8q False False False -Orphanet:1756 Caudal duplication False False False -Orphanet:1757 Fibular dimelia-diplopodia syndrome False False False -Orphanet:1759 Thoraco-abdominal enteric duplication False False False -Orphanet:176 Non-rhizomelic chondrodysplasia punctata False False False -Orphanet:1762 Proximal Xq28 duplication syndrome False False False -Orphanet:1764 Familial dysautonomia False False False -Orphanet:1765 Dyschondrosteosis-nephritis syndrome False False False -Orphanet:1766 Dysequilibrium syndrome False False False -Orphanet:1768 Familial caudal dysgenesis False False False -Orphanet:177 Rhizomelic chondrodysplasia punctata False False False -Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome False False False -Orphanet:177101 Rare adult hypothyroidism False False False -Orphanet:177107 Syndromic hypothyroidism False False False -Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis False False False -Orphanet:1775 Dyskeratosis congenita False False False -Orphanet:1777 Temtamy syndrome False False False -Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome False False False -Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome False False False -Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 False False False -Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 False False False -Orphanet:177907 Prader-Willi syndrome due to translocation False False False -Orphanet:177910 Prader-Willi syndrome due to imprinting mutation False False False -Orphanet:177926 Bleeding disorder in hemophilia A carriers False False False -Orphanet:177929 Bleeding disorder in hemophilia B carriers False False False -Orphanet:178 Chordoma False False False -Orphanet:1780 Thakker-Donnai syndrome False False False -Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations False False False -Orphanet:178029 Central diabetes insipidus False False False -Orphanet:178040 Rare peripheral precocious puberty False False False -Orphanet:178045 Transient congenital hypothyroidism False False False -Orphanet:178145 Moderate multiminicore disease with hand involvement False False False -Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita False False False -Orphanet:1782 Dysosteosclerosis False False False -Orphanet:178303 8q22.1 microdeletion syndrome False False False -Orphanet:178307 Reticulate acropigmentation of Kitamura False False False -Orphanet:178311 Isolated sternocostoclavicular hyperostosis False False False -Orphanet:178315 Undifferentiated embryonal sarcoma of the liver False False False -Orphanet:178320 Acute lung injury False False False -Orphanet:178333 Åland Islands eye disease False False False -Orphanet:178338 UV-sensitive syndrome False False False -Orphanet:178342 Inflammatory myofibroblastic tumor False False False -Orphanet:178345 Aromatase excess syndrome False False False -Orphanet:178355 Smith-McCort dysplasia False False False -Orphanet:178364 Syndromic microphthalmia type 5 False False False -Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome False False False -Orphanet:178382 Congenital vertical talus False False False -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome False False False -Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation False False False -Orphanet:1784 Acrofrontofacionasal dysostosis False False False -Orphanet:178400 Distal myopathy with anterior tibial onset False False False -Orphanet:178461 X-linked myopathy with postural muscle atrophy False False False -Orphanet:178464 Hereditary myopathy with early respiratory failure False False False -Orphanet:178469 Autosomal dominant non-syndromic intellectual disability False False False -Orphanet:178475 Wound botulism False False False -Orphanet:178478 Infant botulism False False False -Orphanet:178481 Intestinal botulism False False False -Orphanet:178487 Adult intestinal botulism False False False -Orphanet:178493 Myopic macular degeneration False False False -Orphanet:178506 Brain calcification, Rajab type False False False -Orphanet:178509 Perry syndrome False False False -Orphanet:178512 Folliculotropic mycosis fungoides False False False -Orphanet:178517 Localized pagetoid reticulosis False False False -Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma False False False -Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma False False False -Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma False False False -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma False False False -Orphanet:178540 Primary cutaneous follicle center lymphoma False False False -Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type False False False -Orphanet:1786 Acrofacial dysostosis, Catania type False False False -Orphanet:1787 Acrofacial dysostosis, Palagonia type False False False -Orphanet:1788 Acrofacial dysostosis, Rodríguez type False False False -Orphanet:178996 Acquired neutropenia False False False -Orphanet:179 Birdshot chorioretinopathy False False False -Orphanet:1790 Hypomandibular faciocranial dysostosis False False False -Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity False False False -Orphanet:1791 Frontofacionasal dysplasia False False False -Orphanet:1794 Oculomaxillofacial dysostosis False False False -Orphanet:179490 Obesity due to congenital leptin resistance False False False -Orphanet:179494 Obesity due to leptin receptor gene deficiency False False False -Orphanet:1795 Peripheral dysostosis False False False -Orphanet:1797 Autosomal dominant spondylocostal dysostosis False False False -Orphanet:1798 Dysostosis, Stanescu type False False False -Orphanet:1799 Familial developmental dysphasia False False False -Orphanet:18 Distal renal tubular acidosis False False False -Orphanet:180 Choroideremia False False False -Orphanet:180062 Uterovaginal malformation False False False -Orphanet:180074 True unicornuate uterus False False False -Orphanet:180079 Pseudounicornuate uterus False False False -Orphanet:180086 Didelphys uterus False False False -Orphanet:1801 Kyphomelic dysplasia False False False -Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina False False False -Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina False False False -Orphanet:180114 Unicervical bicornuate uterus False False False -Orphanet:180126 Complete septate uterus False False False -Orphanet:180129 Partial septate uterus False False False -Orphanet:180139 Uterine hypoplasia False False False -Orphanet:180142 Absence of uterine body False False False -Orphanet:180145 Uterine cervical aplasia and agenesis False False False -Orphanet:180148 Syndromic uterovaginal malformation False False False -Orphanet:180154 Septate vagina False False False -Orphanet:180157 Longitudinal vaginal septum False False False -Orphanet:180160 Transverse vaginal septum False False False -Orphanet:180163 Rare breast malformation False False False -Orphanet:180170 Excess breast volume or number False False False -Orphanet:180173 Deficient breast volume or number False False False -Orphanet:180176 Familial juvenile hypertrophy of the breast False False False -Orphanet:180182 Supernumerary breasts False False False -Orphanet:180188 Isolated congenital breast hypoplasia/aplasia False False False -Orphanet:180193 Syndromic breast hypoplasia/aplasia False False False -Orphanet:180199 Rare non-malformative gynecologic or obstetric disease False False False -Orphanet:1802 Ghosal hematodiaphyseal dysplasia False False False -Orphanet:180202 Rare non-malformative breast disease False False False -Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease False False False -Orphanet:180208 Anomaly of puberty or/and menstrual cycle False False False -Orphanet:180220 Rare uterine adnexal tumor False False False -Orphanet:180226 Embryonal carcinoma False False False -Orphanet:180229 Polyembryoma False False False -Orphanet:180234 Mixed germ cell tumor False False False -Orphanet:180237 Benign tumor of fallopian tubes False False False -Orphanet:180242 Malignant tumor of fallopian tubes False False False -Orphanet:180247 Vaginal carcinoma False False False -Orphanet:180250 Rare breast tumor False False False -Orphanet:180253 Rare benign breast tumor False False False -Orphanet:180257 Rare malignant breast tumor False False False -Orphanet:180261 Phyllodes tumor of the breast False False False -Orphanet:180267 Giant adenofibroma of the breast False False False -Orphanet:180275 Paget disease of the nipple False False False -Orphanet:1803 Thoracomelic dysplasia False False False -Orphanet:180303 Rare non-malformative uterine adnexal disease False False False -Orphanet:180312 Rare vulvovaginal tumor False False False -Orphanet:1806 Ectodermal dysplasia-blindness syndrome False False False -Orphanet:1807 Focal facial dermal dysplasia type III False False False -Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta False False False -Orphanet:180772 Rare disease with autism False False False -Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation False False False -Orphanet:180779 Syndromic diaphragmatic or thoracic malformation False False False -Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type False False False -Orphanet:180821 Rare gastroesophageal tumor False False False -Orphanet:180824 Rare tumor of pancreas False False False -Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type False False False -Orphanet:181 X-linked hypohidrotic ectodermal dysplasia False False False -Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia False False False -Orphanet:1811 Odontomicronychial dysplasia False False False -Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome False False False -Orphanet:181368 Rare insulin-resistance syndrome False False False -Orphanet:181371 Rare diabetes mellitus type 1 False False False -Orphanet:181376 Rare diabetes mellitus type 2 False False False -Orphanet:181381 Other rare diabetes mellitus False False False -Orphanet:181384 Rare hypothalamic or pituitary disease False False False -Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism False False False -Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature False False False -Orphanet:181393 Growth hormone insensitivity syndrome False False False -Orphanet:181396 Rare hypothyroidism False False False -Orphanet:181399 Rare hyperthyroidism False False False -Orphanet:181402 Syndrome with hypoparathyroidism False False False -Orphanet:181405 Rare hypoparathyroidism False False False -Orphanet:181408 Rare hyperparathyroidism False False False -Orphanet:181412 Adrenogenital syndrome False False False -Orphanet:181415 Rare primary hyperaldosteronism False False False -Orphanet:181419 Rare hypoaldosteronism False False False -Orphanet:181422 Rare hyperlipidemia False False False -Orphanet:181428 Hyperalphalipoproteinemia False False False -Orphanet:181431 Rare hypolipidemia False False False -Orphanet:181437 Rare syndromic dyslipidemia False False False -Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism False False False -Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome False False False -Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type False False False -Orphanet:182 Chromomycosis False False False -Orphanet:182043 Rare constitutional hemolytic anemia False False False -Orphanet:182047 Rare acquired hemolytic anemia False False False -Orphanet:182050 MYH9-related disease False False False -Orphanet:182054 Rare thrombotic disease of hematologic origin False False False -Orphanet:182058 Primary orthostatic hypotension False False False -Orphanet:182061 Cerebellar malformation False False False -Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease False False False -Orphanet:182067 Glial tumor False False False -Orphanet:182070 Rare neurodegenerative disease False False False -Orphanet:182079 ARX-related epileptic encephalopathy False False False -Orphanet:182083 Channelopathy with epilepsy False False False -Orphanet:182086 Acquired peripheral neuropathy False False False -Orphanet:182108 Thoracic malformation False False False -Orphanet:182111 Respiratory malformation False False False -Orphanet:182114 Rare urogenital tumor False False False -Orphanet:182127 Extragonadal germinoma False False False -Orphanet:182130 Tumor of endocrine glands False False False -Orphanet:1822 Dysplasia epiphysealis hemimelica False False False -Orphanet:182228 Systemic autoimmune disease False False False -Orphanet:182231 Rare rheumatologic disease False False False -Orphanet:1824 Lowry-Wood syndrome False False False -Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome False False False -Orphanet:1826 Frontometaphyseal dysplasia False False False -Orphanet:1827 Acromelic frontonasal dysplasia False False False -Orphanet:182734 Genetic urticaria False False False -Orphanet:183 Eosinophilic granulomatosis with polyangiitis False False False -Orphanet:1830 Schimke immuno-osseous dysplasia False False False -Orphanet:1832 Lethal osteosclerotic bone dysplasia False False False -Orphanet:1834 Axial mesodermal dysplasia spectrum False False False -Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer False False False -Orphanet:183426 Genetic epidermal disorder False False False -Orphanet:183435 Inherited ichthyosis False False False -Orphanet:183438 Genetic erythrokeratoderma False False False -Orphanet:183441 Genetic acrokeratoderma False False False -Orphanet:183444 Genetic porokeratosis False False False -Orphanet:183447 Genetic epidermal appendage anomaly False False False -Orphanet:183450 Genetic hair anomaly False False False -Orphanet:183454 Genetic nail anomaly False False False -Orphanet:183460 Genetic sebaceous gland anomaly False False False -Orphanet:183463 Genetic pigmentation anomaly of the skin False False False -Orphanet:183472 Genetic dermis disorder False False False -Orphanet:183478 Genetic skin vascular disorder False False False -Orphanet:183481 Genetic mixed dermis disorder False False False -Orphanet:183484 Genetic subcutaneous tissue disorder False False False -Orphanet:183487 Genetic skin tumor or hamartoma False False False -Orphanet:183490 Genetic photodermatosis False False False -Orphanet:183494 Genetic immune deficiency with skin involvement False False False -Orphanet:183497 Genetic neuromuscular disease False False False -Orphanet:183500 Genetic neurodegenerative disease False False False -Orphanet:183503 Genetic central nervous system and retinal vascular disease False False False -Orphanet:183506 Genetic central nervous system malformation False False False -Orphanet:183509 Rare genetic headache False False False -Orphanet:183512 Rare genetic epilepsy False False False -Orphanet:183515 Rare genetic medullar disease False False False -Orphanet:183518 Hereditary ataxia False False False -Orphanet:183521 Rare genetic movement disorder False False False -Orphanet:183524 Rare genetic bone disease False False False -Orphanet:183527 Genetic bone tumor False False False -Orphanet:183530 Rare genetic developmental defect during embryogenesis False False False -Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome False False False -Orphanet:183536 Genetic congenital limb malformation False False False -Orphanet:183539 Genetic renal or urinary tract malformation False False False -Orphanet:183542 Genetic cranial malformation False False False -Orphanet:183545 Genetic digestive tract malformation False False False -Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen False False False -Orphanet:183554 Genetic respiratory or mediastinal malformation False False False -Orphanet:183557 Genetic developmental defect of the eye False False False -Orphanet:183570 Genetic malformation syndrome with short stature False False False -Orphanet:183573 Genetic overgrowth/obesity syndrome False False False -Orphanet:183576 Genetic branchial arch or oral-acral syndrome False False False -Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component False False False -Orphanet:183583 Genetic head and neck malformation False False False -Orphanet:183586 Genetic glomerular disease False False False -Orphanet:183589 Genetic thrombotic microangiopathy False False False -Orphanet:183592 Genetic renal tubular disease False False False -Orphanet:183595 Genetic renal tumor False False False -Orphanet:1836 Mesomelic dysplasia, Kantaputra type False False False -Orphanet:183616 Genetic neuro-ophthalmological disease False False False -Orphanet:183619 Genetic eye tumor False False False -Orphanet:183622 Genetic respiratory malformation False False False -Orphanet:183625 Rare genetic diabetes mellitus False False False -Orphanet:183628 Rare genetic hypothalamic or pituitary disease False False False -Orphanet:183631 Rare genetic thyroid disease False False False -Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder False False False -Orphanet:183637 Rare genetic adrenal disease False False False -Orphanet:183643 Genetic polyendocrinopathy False False False -Orphanet:183651 Rare constitutional anemia False False False -Orphanet:183654 Rare genetic coagulation disorder False False False -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections False False False -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections False False False -Orphanet:183669 Agammaglobulinemia False False False -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency False False False -Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency False False False -Orphanet:183681 Functional neutrophil defect False False False -Orphanet:1837 Ulna metaphyseal dysplasia syndrome False False False -Orphanet:183707 Neutrophil immunodeficiency syndrome False False False -Orphanet:183710 Genetic susceptibility to infections due to particular pathogens False False False -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency False False False -Orphanet:183731 Rare genetic gynecological and obstetrical diseases False False False -Orphanet:183734 Genetic gynecological tumor False False False -Orphanet:183757 Rare genetic intellectual disability False False False -Orphanet:183763 Rare genetic syndromic intellectual disability False False False -Orphanet:183770 Rare genetic immune disease False False False -Orphanet:1839 Hereditary mucoepithelial dysplasia False False False -Orphanet:184 Cherubism False False False -Orphanet:1842 Bone dysplasia, lethal Holmgren type False False False -Orphanet:1848 Renal agenesis, bilateral False False False -Orphanet:185 Scimitar syndrome False False False -Orphanet:1851 Multicystic dysplastic kidney False False False -Orphanet:1852 X-linked retinal dysplasia False False False -Orphanet:1855 Spondyloenchondrodysplasia False False False -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome False False False -Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome False False False -Orphanet:186 Primary biliary cholangitis False False False -Orphanet:1860 Thanatophoric dysplasia type 1 False False False -Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome False False False -Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type False False False -Orphanet:1866 Focal, segmental or multifocal dystonia False False False -Orphanet:1867 Hereditary bullous dystrophy, macular type False False False -Orphanet:187 Citrullinemia False False False -Orphanet:1871 Progressive cone dystrophy False False False -Orphanet:1872 Cone rod dystrophy False False False -Orphanet:1873 Jalili syndrome False False False -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome False False False -Orphanet:1876 Oculogastrointestinal muscular dystrophy False False False -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 False False False -Orphanet:1879 Melorheostosis with osteopoikilosis False False False -Orphanet:188 Systemic capillary leak syndrome False False False -Orphanet:1880 Ebstein malformation of the tricuspid valve False False False -Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome False False False -Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome False False False -Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome False False False -Orphanet:1885 Isolated ectopia lentis False False False -Orphanet:189 Hidrotic ectodermal dysplasia False False False -Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome False False False -Orphanet:1892 Ectrodactyly-polydactyly syndrome False False False -Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease False False False -Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion False False False -Orphanet:1895 Edinburgh malformation syndrome False False False -Orphanet:1896 EEC syndrome False False False -Orphanet:1897 EEM syndrome False False False -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome False False False -Orphanet:19 2-hydroxyglutaric aciduria False False False -Orphanet:190 Coats disease False False False -Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency False False False -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome False False False -Orphanet:1902 Ehrlichiosis False False False -Orphanet:1906 Fetal valproate spectrum disorder False False False -Orphanet:1908 Aminopterin/methotrexate embryofetopathy False False False -Orphanet:1909 Indomethacin embryofetopathy False False False -Orphanet:191 Cockayne syndrome False False False -Orphanet:1910 Fetal iodine syndrome False False False -Orphanet:1911 Cocaine embryofetopathy False False False -Orphanet:1912 Fetal hydantoin syndrome False False False -Orphanet:1913 Fetal trimethadione syndrome False False False -Orphanet:1914 Vitamin K antagonist embryofetopathy False False False -Orphanet:1915 Fetal alcohol syndrome False False False -Orphanet:1916 Diethylstilbestrol syndrome False False False -Orphanet:1917 Fetal methylmercury syndrome False False False -Orphanet:1918 Fetal minoxidil syndrome False False False -Orphanet:1919 Phenobarbital embryopathy False False False -Orphanet:192 Coffin-Lowry syndrome False False False -Orphanet:1920 Toluene embryopathy False False False -Orphanet:1923 Methimazole embryofetopathy False False False -Orphanet:1926 Diabetic embryopathy False False False -Orphanet:1927 Emery-Nelson syndrome False False False -Orphanet:1928 Congenital lobar emphysema False False False -Orphanet:1929 Rasmussen subacute encephalitis False False False -Orphanet:193 Cohen syndrome False False False -Orphanet:1930 Herpes simplex virus encephalitis False False False -Orphanet:1931 Frontal encephalocele False False False -Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria False False False -Orphanet:1934 Early infantile epileptic encephalopathy False False False -Orphanet:1935 Early myoclonic encephalopathy False False False -Orphanet:1937 Eng-Strom syndrome False False False -Orphanet:1941 Juvenile absence epilepsy False False False -Orphanet:1942 Myoclonic-astatic epilepsy False False False -Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus False False False -Orphanet:1945 Rolandic epilepsy False False False -Orphanet:1946 Amelocerebrohypohidrotic syndrome False False False -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type False False False -Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome False False False -Orphanet:1949 Benign familial neonatal epilepsy False False False -Orphanet:195 Cat-eye syndrome False False False -Orphanet:1951 Epilepsy-telangiectasia syndrome False False False -Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome False False False -Orphanet:1954 Congenital lethal erythroderma False False False -Orphanet:1955 Spinocerebellar ataxia type 34 False False False -Orphanet:1957 Esthesioneuroblastoma False False False -Orphanet:1959 Evans syndrome False False False -Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome False False False -Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome False False False -Orphanet:1968 Flat face-microstomia-ear anomaly syndrome False False False -Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome False False False -Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome False False False -Orphanet:1972 Lethal faciocardiomelic dysplasia False False False -Orphanet:1973 Faciocardiorenal syndrome False False False -Orphanet:1974 Autosomal recessive faciodigitogenital syndrome False False False -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency False False False -Orphanet:198 Occipital horn syndrome False False False -Orphanet:1980 Bilateral striopallidodentate calcinosis False False False -Orphanet:1986 Gollop-Wolfgang complex False False False -Orphanet:1987 Femoral agenesis/hypoplasia False False False -Orphanet:1988 Femoral-facial syndrome False False False -Orphanet:199 Cornelia de Lange syndrome False False False -Orphanet:1991 Cleft lip with or without cleft palate False False False -Orphanet:199241 Pulmonary capillary hemangiomatosis False False False -Orphanet:199244 Nelson syndrome False False False -Orphanet:199247 Corticosteroid-binding globulin deficiency False False False -Orphanet:199251 Ledderhose disease False False False -Orphanet:199257 Superficial fibromatosis False False False -Orphanet:199260 Calcifying aponeurotic fibroma False False False -Orphanet:199267 Infantile digital fibromatosis False False False -Orphanet:199276 Familial multiple lipomatosis False False False -Orphanet:199279 Familial angiolipomatosis False False False -Orphanet:199282 Harlequin syndrome False False False -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency False False False -Orphanet:199293 Congenital microgastria False False False -Orphanet:199296 Congenital isolated ACTH deficiency False False False -Orphanet:199299 Late-onset isolated ACTH deficiency False False False -Orphanet:1993 Pai syndrome False False False -Orphanet:199302 Isolated cleft lip False False False -Orphanet:199306 Cleft lip/palate False False False -Orphanet:199310 Tetragametic chimerism False False False -Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies False False False -Orphanet:199318 15q13.3 microdeletion syndrome False False False -Orphanet:199323 Endophthalmitis False False False -Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type False False False -Orphanet:199329 Congenital myopathy, Paradas type False False False -Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome False False False -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome False False False -Orphanet:199340 Muscular dystrophy, Selcen type False False False -Orphanet:199343 EAST syndrome False False False -Orphanet:199348 Thiamine-responsive encephalopathy False False False -Orphanet:199351 Adult-onset dystonia-parkinsonism False False False -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy False False False -Orphanet:1995 Cleft lip-retinopathy syndrome False False False -Orphanet:199627 Atypical autism False False False -Orphanet:199630 Isolated cerebellar vermis hypoplasia False False False -Orphanet:199633 Non-syndromic cerebral malformation False False False -Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature False False False -Orphanet:199642 Isolated congenital microcephaly False False False -Orphanet:199647 Isolated encephalocele False False False -Orphanet:1997 Blepharo-cheilo-odontic syndrome False False False -Orphanet:20 3-hydroxy-3-methylglutaric aciduria False False False -Orphanet:200 Isolated corpus callosum agenesis False False False -Orphanet:200037 Paroxysmal dystonia False False False -Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome False False False -Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome False False False -Orphanet:2004 Laryngotracheoesophageal cleft False False False -Orphanet:200418 Immunodeficiency with factor I anomaly False False False -Orphanet:200421 Immunodeficiency with factor H anomaly False False False -Orphanet:2006 Median cleft lip/mandible False False False -Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome False False False -Orphanet:2008 Acrocardiofacial syndrome False False False -Orphanet:201 Cowden syndrome False False False -Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome False False False -Orphanet:2013 Cleft palate-large ears-small head syndrome False False False -Orphanet:2014 Cleft palate False False False -Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome False False False -Orphanet:2016 Cleft palate-lateral synechia syndrome False False False -Orphanet:2017 Sternal cleft False False False -Orphanet:2019 Femur-fibula-ulna complex False False False -Orphanet:202 Crandall syndrome False False False -Orphanet:2020 Congenital fiber-type disproportion myopathy False False False -Orphanet:2021 Fibrochondrogenesis False False False -Orphanet:2022 Endocardial fibroelastosis False False False -Orphanet:2023 Undifferentiated pleomorphic sarcoma False False False -Orphanet:2024 Hereditary gingival fibromatosis False False False -Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome False False False -Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome False False False -Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome False False False -Orphanet:2028 Juvenile hyaline fibromatosis False False False -Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin False False False -Orphanet:2030 Fibrosarcoma False False False -Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome False False False -Orphanet:2032 Idiopathic pulmonary fibrosis False False False -Orphanet:2034 Filariasis False False False -Orphanet:2035 Lymphatic filariasis False False False -Orphanet:2036 Scalp-ear-nipple syndrome False False False -Orphanet:2037 Congenital aortopulmonary window False False False -Orphanet:2038 Pulmonary arteriovenous malformation False False False -Orphanet:2039 Congenital systemic arteriovenous fistula False False False -Orphanet:204 Sporadic Creutzfeldt-Jakob disease False False False -Orphanet:2040 Congenital respiratory-biliary fistula False False False -Orphanet:2041 Coronary arterial fistula False False False -Orphanet:2044 Floating-Harbor syndrome False False False -Orphanet:2045 FLOTCH syndrome False False False -Orphanet:2047 Flynn-Aird syndrome False False False -Orphanet:2048 Foix-Chavany-Marie syndrome False False False -Orphanet:205 Crigler-Najjar syndrome False False False -Orphanet:2050 Cole-Carpenter syndrome False False False -Orphanet:2052 Fraser syndrome False False False -Orphanet:2053 Freeman-Sheldon syndrome False False False -Orphanet:2056 Essential fructosuria False False False -Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome False False False -Orphanet:2058 Fryns-Smeets-Thiry syndrome False False False -Orphanet:2059 Fryns syndrome False False False -Orphanet:2062 Progressive non-infectious anterior vertebral fusion False False False -Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome False False False -Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome False False False -Orphanet:206436 Infantile Krabbe disease False False False -Orphanet:206443 Late-infantile/juvenile Krabbe disease False False False -Orphanet:206448 Adult Krabbe disease False False False -Orphanet:206470 Cystadenoma of childhood False False False -Orphanet:206484 Gonadoblastoma False False False -Orphanet:206489 Malignant germ cell tumor of the vagina False False False -Orphanet:206492 Vulvovaginal rhabdomyosarcoma False False False -Orphanet:2065 Galloway-Mowat syndrome False False False -Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary False False False -Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers False False False -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 False False False -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 False False False -Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 False False False -Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 False False False -Orphanet:206569 Immune-mediated necrotizing myopathy False False False -Orphanet:206572 Overlap myositis False False False -Orphanet:206575 Rippling muscle disease with myasthenia gravis False False False -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset False False False -Orphanet:206583 Adult polyglucosan body disease False False False -Orphanet:206586 Neurolymphomatosis False False False -Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy False False False -Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase False False False -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency False False False -Orphanet:206613 Infectious disease with peripheral neuropathy False False False -Orphanet:206638 Acquired skeletal muscle disease False False False -Orphanet:206644 Progressive muscular dystrophy False False False -Orphanet:206647 Myotonic dystrophy False False False -Orphanet:206650 Autosomal dominant distal myopathy False False False -Orphanet:206653 Autosomal recessive distal myopathy False False False -Orphanet:206656 Non-dystrophic myopathy False False False -Orphanet:206662 Inclusion myopathy False False False -Orphanet:2067 GAPO syndrome False False False -Orphanet:206701 Bulbospinal muscular atrophy False False False -Orphanet:206704 Bulbospinal muscular atrophy of childhood False False False -Orphanet:206707 Bulbospinal muscular atrophy of adult False False False -Orphanet:206710 Generalized bulbospinal muscular atrophy False False False -Orphanet:2069 Gastrocutaneous syndrome False False False -Orphanet:206953 Muscular lipidosis False False False -Orphanet:206959 Muscular glycogenosis False False False -Orphanet:206966 Mitochondrial myopathy False False False -Orphanet:206970 Myotonic syndrome False False False -Orphanet:206973 Congenital myotonia False False False -Orphanet:206976 Periodic paralysis False False False -Orphanet:206982 Muscular tumor False False False -Orphanet:206988 Infectious, fungal or parasitic myopathy False False False -Orphanet:206991 Viral myositis False False False -Orphanet:206994 Bacterial myositis False False False -Orphanet:206997 Parasitic myositis False False False -Orphanet:207 Crouzon syndrome False False False -Orphanet:2070 Eosinophilic gastroenteritis False False False -Orphanet:207000 Fungal myositis False False False -Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly False False False -Orphanet:207015 Rare hereditary disease with peripheral neuropathy False False False -Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy False False False -Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy False False False -Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy False False False -Orphanet:207028 Cerebellar ataxia with peripheral neuropathy False False False -Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy False False False -Orphanet:207046 Malignant lymphoma with peripheral neuropathy False False False -Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases False False False -Orphanet:207052 Qualitative or quantitative defects of sarcoglycan False False False -Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan False False False -Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan False False False -Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan False False False -Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan False False False -Orphanet:207073 Qualitative or quantitative defects of dysferlin False False False -Orphanet:207078 Qualitative or quantitative defects of caveolin-3 False False False -Orphanet:207085 Qualitative or quantitative defects of dystrophin False False False -Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy False False False -Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 False False False -Orphanet:207101 Qualitative or quantitative defects of perlecan False False False -Orphanet:207104 Qualitative or quantitative defects of calpain False False False -Orphanet:207107 Qualitative or quantitative defects of TRIM32 False False False -Orphanet:207110 Qualitative or quantitative defects of myotubularin False False False -Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan False False False -Orphanet:207119 Qualitative or quantitative defects of FKRP False False False -Orphanet:207122 Qualitative or quantitative defects of fukutin False False False -Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome False False False -Orphanet:2073 Narcolepsy type 1 False False False -Orphanet:2074 Gemignani syndrome False False False -Orphanet:2075 Genitopalatocardiac syndrome False False False -Orphanet:2076 X-linked intellectual disability-epilepsy syndrome False False False -Orphanet:2077 German syndrome False False False -Orphanet:2078 Geroderma osteodysplastica False False False -Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome False False False -Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome False False False -Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria False False False -Orphanet:208444 Bilateral frontal polymicrogyria False False False -Orphanet:208447 Bilateral generalized polymicrogyria False False False -Orphanet:2085 Glaucoma-sleep apnea syndrome False False False -Orphanet:208508 Autosomal dominant cerebellar ataxia type II False False False -Orphanet:208513 Spinocerebellar ataxia type 29 False False False -Orphanet:208524 Herpetiform pemphigus False False False -Orphanet:208593 Genetic hypoparathyroidism False False False -Orphanet:208596 Genetic hyperparathyroidism False False False -Orphanet:2086 Optic pathway glioma False False False -Orphanet:208650 Cryopyrin-associated periodic syndrome False False False -Orphanet:2088 Fanconi-Bickel syndrome False False False -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency False False False -Orphanet:208974 Chronic acquired demyelinating polyneuropathy False False False -Orphanet:208978 Chronic polyradiculoneuropathy False False False -Orphanet:208984 Acquired sensory ganglionopathy False False False -Orphanet:208989 Non-paraneoplastic sensory ganglionopathy False False False -Orphanet:208999 Paraneoplastic sensory ganglionopathy False False False -Orphanet:209 Cutis laxa False False False -Orphanet:2090 GMS syndrome False False False -Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy False False False -Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy False False False -Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy False False False -Orphanet:209013 Acquired amyloid peripheral neuropathy False False False -Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy False False False -Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy False False False -Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase False False False -Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like False False False -Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 False False False -Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 False False False -Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins False False False -Orphanet:209041 Qualitative or quantitative defects of desmin False False False -Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin False False False -Orphanet:209047 Qualitative or quantitative defects of filamin C False False False -Orphanet:209050 Qualitative or quantitative defects of protein ZASP False False False -Orphanet:209053 Qualitative or quantitative defects of titin False False False -Orphanet:209056 Qualitative or quantitative defects of telethonin False False False -Orphanet:209059 Qualitative or quantitative defects of alpha-actin False False False -Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome False False False -Orphanet:209182 Qualitative or quantitative defects of nebulin False False False -Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) False False False -Orphanet:209188 Qualitative or quantitative defects of emerin False False False -Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 False False False -Orphanet:209196 Qualitative or quantitative defects of plectin False False False -Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 False False False -Orphanet:2092 Focal dermal hypoplasia False False False -Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - False False False -Orphanet:209224 Myotilinopathy False False False -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy False False False -Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy False False False -Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly False False False -Orphanet:2095 Gorlin-Chaudhry-Moss syndrome False False False -Orphanet:2097 Grant syndrome False False False -Orphanet:2098 Acromesomelic dysplasia, Grebe type False False False -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment False False False -Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency False False False -Orphanet:209905 Brain-lung-thyroid syndrome False False False -Orphanet:209908 Isolated childhood apraxia of speech False False False -Orphanet:209916 Extraskeletal myxoid chondrosarcoma False False False -Orphanet:209919 Idiopathic copper-associated cirrhosis False False False -Orphanet:209932 Cone dystrophy with supernormal rod response False False False -Orphanet:209943 IRVAN syndrome False False False -Orphanet:209951 Autosomal spastic paraplegia type 18 False False False -Orphanet:209956 Idiopathic uveal effusion syndrome False False False -Orphanet:209959 Phacoanaphylactic uveitis False False False -Orphanet:209964 Solitary rectal ulcer syndrome False False False -Orphanet:209967 Episodic ataxia type 6 False False False -Orphanet:209970 Episodic ataxia type 7 False False False -Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood False False False -Orphanet:209978 Alternating hemiplegia False False False -Orphanet:209981 IRIDA syndrome False False False -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder False False False -Orphanet:210 Cyclosporiasis False False False -Orphanet:2101 Grubben-de Cock-Borghgraef syndrome False False False -Orphanet:210110 Intermediate osteopetrosis False False False -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis False False False -Orphanet:210122 Congenital alveolar capillary dysplasia False False False -Orphanet:210128 Urocanic aciduria False False False -Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome False False False -Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome False False False -Orphanet:210141 Inherited congenital spastic tetraplegia False False False -Orphanet:210144 Lethal polymalformative syndrome, Boissel type False False False -Orphanet:210159 Adult hepatocellular carcinoma False False False -Orphanet:210163 Congenital lethal myopathy, Compton-North type False False False -Orphanet:2102 GTP cyclohydrolase I deficiency False False False -Orphanet:210272 Mal de débarquement False False False -Orphanet:2103 Guillain-Barré syndrome False False False -Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome False False False -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome False False False -Orphanet:210571 Dystonia 16 False False False -Orphanet:210576 Congenital temporomandibular joint ankylosis False False False -Orphanet:210581 Temporomandibular joint anomaly False False False -Orphanet:210584 Spindle cell hemangioma False False False -Orphanet:210589 Infantile hemangioma of rare localization False False False -Orphanet:2107 Hall-Riggs syndrome False False False -Orphanet:2108 Hallermann-Streiff syndrome False False False -Orphanet:2109 Hallermann-Streiff-like syndrome False False False -Orphanet:211 Familial cylindromatosis False False False -Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome False False False -Orphanet:211017 Spinocerebellar ataxia type 30 False False False -Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy False False False -Orphanet:211047 Specific learning disability False False False -Orphanet:211053 Specific language disorder False False False -Orphanet:211062 Hereditary episodic ataxia False False False -Orphanet:211067 Episodic ataxia type 5 False False False -Orphanet:2111 Cystic hamartoma of lung and kidney False False False -Orphanet:211237 Rare vascular tumor False False False -Orphanet:211240 Genetic vascular anomaly False False False -Orphanet:211243 Simple vascular malformation False False False -Orphanet:211247 Rare capillary malformation False False False -Orphanet:211252 Rare venous malformation False False False -Orphanet:211255 Rare lymphatic system anomaly False False False -Orphanet:211266 Rare arteriovenous malformation False False False -Orphanet:211277 Complex vascular malformation with associated anomalies False False False -Orphanet:2114 Hip dysplasia, Beukes type False False False -Orphanet:2115 Harrod syndrome False False False -Orphanet:2116 Hartnup disease False False False -Orphanet:2117 Hartsfield syndrome False False False -Orphanet:2118 Hawkinsinuria False False False -Orphanet:2119 HEC syndrome False False False -Orphanet:212 Cystathioninuria False False False -Orphanet:2122 Kaposiform hemangioendothelioma False False False -Orphanet:2123 Diffuse neonatal hemangiomatosis False False False -Orphanet:2126 Solitary fibrous tumor False False False -Orphanet:2128 Isolated hemihyperplasia False False False -Orphanet:213 Cystinosis False False False -Orphanet:2130 Hemimelia False False False -Orphanet:2131 Alternating hemiplegia of childhood False False False -Orphanet:2132 Hemoglobin C disease False False False -Orphanet:2133 Hemoglobin E disease False False False -Orphanet:2134 Atypical hemolytic uremic syndrome False False False -Orphanet:2135 Hennekam-Beemer syndrome False False False -Orphanet:213500 Ovarian cancer False False False -Orphanet:213504 Adenocarcinoma of ovary False False False -Orphanet:213512 Malignant mixed Müllerian tumor of the ovary False False False -Orphanet:213528 Rare adenocarcinoma of the breast False False False -Orphanet:213531 Metaplastic carcinoma of the breast False False False -Orphanet:213557 Salivary gland type cancer of the breast False False False -Orphanet:213564 Rare uterine cancer False False False -Orphanet:213569 Rare cancer of corpus uteri False False False -Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri False False False -Orphanet:2136 Hennekam syndrome False False False -Orphanet:213600 Adenosarcoma of the corpus uteri False False False -Orphanet:213605 Carcinofibroma of the corpus uteri False False False -Orphanet:213610 Carcinosarcoma of the corpus uteri False False False -Orphanet:213615 Rhabdomyosarcoma of the corpus uteri False False False -Orphanet:213620 Sarcoma of the corpus uteri False False False -Orphanet:213625 Leiomyosarcoma of the corpus uteri False False False -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri False False False -Orphanet:2137 Autoimmune hepatitis False False False -Orphanet:213711 Endometrial stromal sarcoma False False False -Orphanet:213716 Squamous cell carcinoma of the corpus uteri False False False -Orphanet:213721 Undifferentiated carcinoma of the corpus uteri False False False -Orphanet:213726 Serous carcinoma of the corpus uteri False False False -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri False False False -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri False False False -Orphanet:213746 Transitional cell carcinoma of the corpus uteri False False False -Orphanet:213751 Malignant germ cell tumor of the corpus uteri False False False -Orphanet:213761 Rare cancer of cervix uteri False False False -Orphanet:213767 Squamous cell carcinoma of the cervix uteri False False False -Orphanet:213772 Adenocarcinoma of the cervix uteri False False False -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri False False False -Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri False False False -Orphanet:213787 Carcinosarcoma of the cervix uteri False False False -Orphanet:213792 Adenosarcoma of the cervix uteri False False False -Orphanet:213797 Sarcoma of cervix uteri False False False -Orphanet:2138 46,XX ovotesticular difference of sex development False False False -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri False False False -Orphanet:213807 Leiomyosarcoma of the cervix uteri False False False -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri False False False -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri False False False -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri False False False -Orphanet:213833 Glassy cell carcinoma of the cervix uteri False False False -Orphanet:213837 Malignant germ cell tumor of the cervix uteri False False False -Orphanet:2139 Hernández-Aguirre Negrete syndrome False False False -Orphanet:214 Cystinuria False False False -Orphanet:2140 Congenital diaphragmatic hernia False False False -Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome False False False -Orphanet:2143 Donnai-Barrow syndrome False False False -Orphanet:2145 Craniosynostosis, Herrmann-Opitz type False False False -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation False False False -Orphanet:2149 Nodular neuronal heterotopia False False False -Orphanet:215 Congenital stationary night blindness False False False -Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome False False False -Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome False False False -Orphanet:2152 Mowat-Wilson syndrome False False False -Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome False False False -Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome False False False -Orphanet:2157 Histidinemia False False False -Orphanet:2158 Histidinuria-renal tubular defect syndrome False False False -Orphanet:216 Neuronal ceroid lipofuscinosis False False False -Orphanet:2162 Holoprosencephaly False False False -Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome False False False -Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome False False False -Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome False False False -Orphanet:216675 Transposition of the great arteries False False False -Orphanet:216694 Congenitally corrected transposition of the great arteries False False False -Orphanet:2167 Holzgreve syndrome False False False -Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries False False False -Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation False False False -Orphanet:216796 Osteogenesis imperfecta type 1 False False False -Orphanet:216804 Osteogenesis imperfecta type 2 False False False -Orphanet:216812 Osteogenesis imperfecta type 3 False False False -Orphanet:216820 Osteogenesis imperfecta type 4 False False False -Orphanet:216828 Osteogenesis imperfecta type 5 False False False -Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration False False False -Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration False False False -Orphanet:2169 Methylcobalamin deficiency type cblE False False False -Orphanet:216972 Niemann-Pick disease type C, severe perinatal form False False False -Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset False False False -Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset False False False -Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset False False False -Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset False False False -Orphanet:217 Isolated Dandy-Walker malformation False False False -Orphanet:2170 Methylcobalamin deficiency type cblG False False False -Orphanet:217008 Bockenheimer syndrome False False False -Orphanet:217012 Spinocerebellar ataxia type 31 False False False -Orphanet:217017 Zechi-Ceide syndrome False False False -Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type False False False -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A False False False -Orphanet:217059 Isolated congenital digital clubbing False False False -Orphanet:217064 5-fluorouracil poisoning False False False -Orphanet:217067 Pouchitis False False False -Orphanet:217074 Rare carcinoma of pancreas False False False -Orphanet:217085 Mucopolysaccharidosis type 2, severe form False False False -Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form False False False -Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome False False False -Orphanet:217253 NMDA receptor encephalitis False False False -Orphanet:217260 Progressive multifocal leukoencephalopathy False False False -Orphanet:217266 BNAR syndrome False False False -Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease False False False -Orphanet:217335 RIN2 syndrome False False False -Orphanet:217340 17q21.31 microduplication syndrome False False False -Orphanet:217346 19q13.11 microdeletion syndrome False False False -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins False False False -Orphanet:217377 Microduplication Xp11.22p11.23 syndrome False False False -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency False False False -Orphanet:217385 17p13.3 microduplication syndrome False False False -Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency False False False -Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis False False False -Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation False False False -Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles False False False -Orphanet:217454 Rare hereditary thrombophilia False False False -Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency False False False -Orphanet:217557 Pulmonary interstitial glycogenosis False False False -Orphanet:217560 Neuroendocrine cell hyperplasia of infancy False False False -Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency False False False -Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency False False False -Orphanet:2176 Infantile systemic hyalinosis False False False -Orphanet:217604 Dilated cardiomyopathy False False False -Orphanet:217607 Familial dilated cardiomyopathy False False False -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy False False False -Orphanet:217629 Non-familial dilated cardiomyopathy False False False -Orphanet:217632 Restrictive cardiomyopathy False False False -Orphanet:217635 Familial restrictive cardiomyopathy False False False -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia False False False -Orphanet:217678 Unclassified cardiomyopathy False False False -Orphanet:2177 Hydranencephaly False False False -Orphanet:217720 Non-familial restrictive cardiomyopathy False False False -Orphanet:218 Darier disease False False False -Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome False False False -Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome False False False -Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius False False False -Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome False False False -Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome False False False -Orphanet:218436 Rare cardiac rhythm disease False False False -Orphanet:218439 Non-genetic cardiac rhythm disease False False False -Orphanet:2185 Congenital hydrocephalus False False False -Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome False False False -Orphanet:2189 Hydrolethalus False False False -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 False False False -Orphanet:2194 Anti-HLA hyperimmunization False False False -Orphanet:2195 Dicarboxylic aminoaciduria False False False -Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement False False False -Orphanet:2197 Idiopathic hypercalciuria False False False -Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome False False False -Orphanet:2199 Epidermolytic palmoplantar keratoderma False False False -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency False False False -Orphanet:220 Denys-Drash syndrome False False False -Orphanet:2200 Focal palmoplantar and gingival keratoderma False False False -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome False False False -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome False False False -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex False False False -Orphanet:2203 Hyperlysinemia False False False -Orphanet:220386 Semilobar holoprosencephaly False False False -Orphanet:220393 Diffuse cutaneous systemic sclerosis False False False -Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type False False False -Orphanet:220402 Limited cutaneous systemic sclerosis False False False -Orphanet:220407 Limited systemic sclerosis False False False -Orphanet:220436 Quebec platelet disorder False False False -Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency False False False -Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency False False False -Orphanet:220452 Isolated hereditary giant platelet disorder False False False -Orphanet:220460 Attenuated familial adenomatous polyposis False False False -Orphanet:220465 Laron syndrome with immunodeficiency False False False -Orphanet:220493 Joubert syndrome with ocular defect False False False -Orphanet:220497 Joubert syndrome with renal defect False False False -Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis False False False -Orphanet:2207 Familial primary hyperparathyroidism False False False -Orphanet:2209 Maternal phenylketonuria False False False -Orphanet:221 Dermatomyositis False False False -Orphanet:221008 Rothmund-Thomson syndrome type 1 False False False -Orphanet:221016 Rothmund-Thomson syndrome type 2 False False False -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type False False False -Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome False False False -Orphanet:221046 Poikiloderma with neutropenia False False False -Orphanet:221054 Acrocephalopolydactyly False False False -Orphanet:221061 Familial cerebral cavernous malformation False False False -Orphanet:221074 Marchiafava-Bignami disease False False False -Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves False False False -Orphanet:221083 Hemifacial spasm False False False -Orphanet:221091 Trigeminal neuralgia False False False -Orphanet:221098 Glossopharyngeal neuralgia False False False -Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome False False False -Orphanet:221109 Cranial neuralgia False False False -Orphanet:221114 Acquired peripheral movement disorder False False False -Orphanet:221117 Gerstmann syndrome False False False -Orphanet:221120 Pseudoaminopterin syndrome False False False -Orphanet:221126 Fowler vasculopathy False False False -Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies False False False -Orphanet:221142 Confetti-like macular atrophy False False False -Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies False False False -Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome False False False -Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome False False False -Orphanet:2216 Maternal hyperthermia-induced birth defects False False False -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome False False False -Orphanet:222 Erosive pustular dermatosis of the scalp False False False -Orphanet:2220 Hypertrichosis cubiti False False False -Orphanet:2221 Acquired hypertrichosis lanuginosa False False False -Orphanet:2222 Hypertrichosis lanuginosa congenita False False False -Orphanet:2224 Hypertryptophanemia False False False -Orphanet:222628 Hereditary poikiloderma False False False -Orphanet:2228 Hypodontia-dysplasia of nails syndrome False False False -Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome False False False -Orphanet:223 Nephrogenic diabetes insipidus False False False -Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome False False False -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome False False False -Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome False False False -Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome False False False -Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome False False False -Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome False False False -Orphanet:223713 Mitochondrial oxidative phosphorylation disorder False False False -Orphanet:223727 Bone sarcoma False False False -Orphanet:2238 Familial isolated hypoparathyroidism False False False -Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland False False False -Orphanet:224 Neonatal diabetes mellitus False False False -Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome False False False -Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome False False False -Orphanet:2248 Hypoplastic left heart syndrome False False False -Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome False False False -Orphanet:225 Maternally-inherited diabetes and deafness False False False -Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome False False False -Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome False False False -Orphanet:225123 TFR2-related hemochromatosis False False False -Orphanet:225147 Sporadic infantile bilateral striatal necrosis False False False -Orphanet:225154 Familial infantile bilateral striatal necrosis False False False -Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome False False False -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome False False False -Orphanet:2254 Pontocerebellar hypoplasia type 1 False False False -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome False False False -Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome False False False -Orphanet:225681 Lysosomal disease with epilepsy False False False -Orphanet:225686 Peroxisomal disease with epilepsy False False False -Orphanet:225689 Amino acid or protein metabolism disease with epilepsy False False False -Orphanet:225692 Metal transport or utilization disorder with epilepsy False False False -Orphanet:225696 Energy metabolism disorder with epilepsy False False False -Orphanet:2257 Primary pulmonary hypoplasia False False False -Orphanet:225700 Mitochondrial disease with epilepsy False False False -Orphanet:225703 Mitochondrial disease with peripheral neuropathy False False False -Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy False False False -Orphanet:225710 Sterol metabolism disorder with epilepsy False False False -Orphanet:225713 Other metabolic disease with epilepsy False False False -Orphanet:226 Dihydropteridine reductase deficiency False False False -Orphanet:2260 Oligomeganephronia False False False -Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome False False False -Orphanet:226292 Permanent congenital hypothyroidism False False False -Orphanet:226295 Primary congenital hypothyroidism False False False -Orphanet:226298 Central congenital hypothyroidism False False False -Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function False False False -Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs False False False -Orphanet:226316 Genetic transient congenital hypothyroidism False False False -Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type False False False -Orphanet:2268 ICF syndrome False False False -Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome False False False -Orphanet:227 Diphallia False False False -Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome False False False -Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome False False False -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome False False False -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome False False False -Orphanet:227510 Multiple system atrophy, cerebellar type False False False -Orphanet:227535 Hereditary breast cancer False False False -Orphanet:227796 Fundus albipunctatus False False False -Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome False False False -Orphanet:227972 Toxic oil syndrome False False False -Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type False False False -Orphanet:227982 Autoimmune polyendocrinopathy type 3 False False False -Orphanet:227990 Autoimmune polyendocrinopathy type 4 False False False -Orphanet:228000 Idiopathic CD4 lymphocytopenia False False False -Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency False False False -Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome False False False -Orphanet:228113 Anal fistula False False False -Orphanet:228116 Hughes-Stovin syndrome False False False -Orphanet:228119 Fusariosis False False False -Orphanet:228123 Coccidioidomycosis False False False -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type False False False -Orphanet:228145 Multiple sclerosis variant False False False -Orphanet:228157 Marburg acute multiple sclerosis False False False -Orphanet:228165 Baló concentric sclerosis False False False -Orphanet:228169 Autosomal dominant striatal neurodegeneration False False False -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N False False False -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M False False False -Orphanet:228184 Heart-hand syndrome False False False -Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome False False False -Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome False False False -Orphanet:228218 Acquired dermis elastic tissue disorder False False False -Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue False False False -Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue False False False -Orphanet:228227 Late-onset focal dermal elastosis False False False -Orphanet:228236 Linear focal elastosis False False False -Orphanet:228240 Elastoderma False False False -Orphanet:228243 Elastofibroma dorsi False False False -Orphanet:228247 Acquired pseudoxanthoma elasticum False False False -Orphanet:228254 Elastoma False False False -Orphanet:228264 Papular elastorrhexis False False False -Orphanet:228272 Primary anetoderma False False False -Orphanet:228277 Familial anetoderma False False False -Orphanet:228285 Acquired cutis laxa False False False -Orphanet:228290 White fibrous papulosis of the neck False False False -Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis False False False -Orphanet:228299 Mid-dermal elastolysis False False False -Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form False False False -Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form False False False -Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form False False False -Orphanet:228312 Autoimmune hemolytic anemia, cold type False False False -Orphanet:228329 CLN1 disease False False False -Orphanet:228337 CLN10 disease False False False -Orphanet:228340 CLN4A disease False False False -Orphanet:228343 CLN4B disease False False False -Orphanet:228346 CLN3 disease False False False -Orphanet:228349 CLN2 disease False False False -Orphanet:228354 CLN8 disease False False False -Orphanet:228357 CLN9 disease False False False -Orphanet:228360 CLN5 disease False False False -Orphanet:228363 CLN6 disease False False False -Orphanet:228366 CLN7 disease False False False -Orphanet:228371 Foodborne botulism False False False -Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 False False False -Orphanet:228379 Virus-associated trichodysplasia spinulosa False False False -Orphanet:228384 5q14.3 microdeletion syndrome False False False -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia False False False -Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome False False False -Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome False False False -Orphanet:228399 8q12 microduplication syndrome False False False -Orphanet:228402 2q23.1 microdeletion syndrome False False False -Orphanet:228410 Polyvalvular heart disease syndrome False False False -Orphanet:228415 5q35 microduplication syndrome False False False -Orphanet:228423 Monocytopenia with susceptibility to infections False False False -Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency False False False -Orphanet:2285 Primary basilar invagination False False False -Orphanet:2287 Fused mandibular incisors False False False -Orphanet:2289 Neuronal intranuclear inclusion disease False False False -Orphanet:229 Familial aortic dissection False False False -Orphanet:2290 Microvillus inclusion disease False False False -Orphanet:2291 Congenital velopharyngeal incompetence False False False -Orphanet:2295 Familial articular hypermobility syndrome False False False -Orphanet:2297 Insulin-resistance syndrome type A False False False -Orphanet:229717 Isolated agammaglobulinemia False False False -Orphanet:229720 Syndromic agammaglobulinemia False False False -Orphanet:2298 Insulin-resistance syndrome type B False False False -Orphanet:2299 Aortic arch interruption False False False -Orphanet:23 Argininosuccinic aciduria False False False -Orphanet:230 Dopamine beta-hydroxylase deficiency False False False -Orphanet:2300 Multiple intestinal atresia False False False -Orphanet:2301 Congenital short bowel syndrome False False False -Orphanet:2302 Asbestos intoxication False False False -Orphanet:2305 Isotretinoin syndrome False False False -Orphanet:2306 Isotretinoin-like syndrome False False False -Orphanet:2307 IVIC syndrome False False False -Orphanet:2308 Jacobsen syndrome False False False -Orphanet:230800 Toxin-mediated infectious botulism False False False -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 False False False -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome False False False -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome False False False -Orphanet:2309 Pachyonychia congenita False False False -Orphanet:231 Dracunculiasis False False False -Orphanet:2310 Absence deformity of leg-cataract syndrome False False False -Orphanet:231013 Congenital trigeminal anesthesia False False False -Orphanet:231031 Erythema palmare hereditarium False False False -Orphanet:231040 Familial generalized lentiginosis False False False -Orphanet:2311 Autosomal recessive spondylocostal dysostosis False False False -Orphanet:231108 Rhabdoid tumor predisposition syndrome False False False -Orphanet:231111 Drug-induced lupus erythematosus False False False -Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 False False False -Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation False False False -Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion False False False -Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion False False False -Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication False False False -Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 False False False -Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication False False False -Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 False False False -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency False False False -Orphanet:231160 Familial cerebral saccular aneurysm False False False -Orphanet:231169 Usher syndrome type 1 False False False -Orphanet:231178 Usher syndrome type 2 False False False -Orphanet:231183 Usher syndrome type 3 False False False -Orphanet:2312 Transient familial neonatal hyperbilirubinemia False False False -Orphanet:231214 Beta-thalassemia major False False False -Orphanet:231222 Beta-thalassemia intermedia False False False -Orphanet:231226 Dominant beta-thalassemia False False False -Orphanet:231237 Delta-beta-thalassemia False False False -Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome False False False -Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome False False False -Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome False False False -Orphanet:2314 Autosomal dominant hyper-IgE syndrome False False False -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome False False False -Orphanet:231413 Variant of Guillain-Barré syndrome False False False -Orphanet:231416 Regional variant of Guillain-Barré syndrome False False False -Orphanet:231419 Functional variant of Guillain-Barré syndrome False False False -Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome False False False -Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome False False False -Orphanet:231450 Acute pure sensory neuropathy False False False -Orphanet:231457 Acute pandysautonomia False False False -Orphanet:231466 Acute sensory ataxic neuropathy False False False -Orphanet:2315 Johanson-Blizzard syndrome False False False -Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency False False False -Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency False False False -Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency False False False -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome False False False -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa False False False -Orphanet:231573 Congenital erosive and vesicular dermatosis False False False -Orphanet:231580 Primary unilateral adrenal hyperplasia False False False -Orphanet:2316 Johnson neuroectodermal syndrome False False False -Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion False False False -Orphanet:231632 Ectopic aldosterone-producing tumor False False False -Orphanet:231637 Rare surgically correctable form of primary aldosteronism False False False -Orphanet:231641 Rare non surgically correctable form of primary aldosteronism False False False -Orphanet:231662 Isolated growth hormone deficiency type IA False False False -Orphanet:231671 Isolated growth hormone deficiency type IB False False False -Orphanet:231679 Isolated growth hormone deficiency type II False False False -Orphanet:231692 Isolated growth hormone deficiency type III False False False -Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome False False False -Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome False False False -Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome False False False -Orphanet:2318 Joubert syndrome with oculorenal defect False False False -Orphanet:2319 Juberg-Hayward syndrome False False False -Orphanet:232 Sickle cell anemia False False False -Orphanet:232035 Infectious embryofetopathy False False False -Orphanet:2321 Jung syndrome False False False -Orphanet:2322 Kabuki syndrome False False False -Orphanet:2323 Sanjad-Sakati syndrome False False False -Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome False False False -Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia False False False -Orphanet:2326 Kallmann syndrome-heart disease syndrome False False False -Orphanet:2328 Kapur-Toriello syndrome False False False -Orphanet:2329 Karsch-Neugebauer syndrome False False False -Orphanet:233 Duane retraction syndrome False False False -Orphanet:2330 Kasabach-Merritt syndrome False False False -Orphanet:2331 Kawasaki disease False False False -Orphanet:2332 KBG syndrome False False False -Orphanet:2333 Kenny-Caffey syndrome False False False -Orphanet:2334 Autosomal dominant keratitis False False False -Orphanet:233655 Rare genetic vascular disease False False False -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma False False False -Orphanet:2338 Isolated punctate palmoplantar keratoderma False False False -Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome False False False -Orphanet:234 Dubin-Johnson syndrome False False False -Orphanet:2340 Keratosis follicularis spinulosa decalvans False False False -Orphanet:2342 Haim-Munk syndrome False False False -Orphanet:2345 Isolated Klippel-Feil syndrome False False False -Orphanet:2346 Angioosteohypertrophic syndrome False False False -Orphanet:2347 Lethal Kniest-like dysplasia False False False -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type False False False -Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome False False False -Orphanet:235 Dubowitz syndrome False False False -Orphanet:2351 Kousseff syndrome False False False -Orphanet:2353 Schilbach-Rott syndrome False False False -Orphanet:2356 Arachnoid cyst False False False -Orphanet:2357 Bronchogenic cyst False False False -Orphanet:235832 Congenital vascular bone syndrome False False False -Orphanet:236 Trisomy 9p False False False -Orphanet:2363 Lacrimoauriculodentodigital syndrome False False False -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency False False False -Orphanet:2368 Gastroschisis False False False -Orphanet:2369 Limb body wall complex False False False -Orphanet:237 Duplication of urethra False False False -Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome False False False -Orphanet:2371 Lethal Larsen-like syndrome False False False -Orphanet:2372 Laryngocele False False False -Orphanet:2373 Congenital laryngomalacia False False False -Orphanet:2374 Congenital laryngeal web False False False -Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome False False False -Orphanet:2377 Laurence-Moon syndrome False False False -Orphanet:2378 Laurin-Sandrow syndrome False False False -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome False False False -Orphanet:238 Digestive duplication False False False -Orphanet:2380 Legg-Calvé-Perthes disease False False False -Orphanet:2382 Lennox-Gastaut syndrome False False False -Orphanet:238269 AApoAII amyloidosis False False False -Orphanet:238305 Infundibulo-neurohypophysitis False False False -Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy False False False -Orphanet:238446 15q11q13 microduplication syndrome False False False -Orphanet:238455 Infantile dystonia-parkinsonism False False False -Orphanet:238459 SLC35A1-CDG False False False -Orphanet:238468 Hypohidrotic ectodermal dysplasia False False False -Orphanet:238475 Familial hypercholanemia False False False -Orphanet:238505 Combined immunodeficiency due to CD27 deficiency False False False -Orphanet:238523 Atypical hypotonia-cystinuria syndrome False False False -Orphanet:238536 Congenital secondary polycythemia False False False -Orphanet:238547 Acquired secondary polycythemia False False False -Orphanet:238557 Chuvash erythrocytosis False False False -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome False False False -Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication False False False -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency False False False -Orphanet:238593 IgG4-related mesenteritis False False False -Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome False False False -Orphanet:238606 Primary orthostatic tremor False False False -Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation False False False -Orphanet:238624 Idiopathic intracranial hypertension False False False -Orphanet:238637 Megacystis-megaureter syndrome False False False -Orphanet:238642 Primary megaureter, adult-onset form False False False -Orphanet:238646 Congenital primary megaureter, obstructed form False False False -Orphanet:238650 Congenital primary megaureter, refluxing form False False False -Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form False False False -Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism False False False -Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency False False False -Orphanet:238688 Neonatal iodine exposure False False False -Orphanet:238696 Transient congenital hypothyroidism due to maternal factor False False False -Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor False False False -Orphanet:2387 Leukonychia totalis False False False -Orphanet:238722 Familial congenital mirror movements False False False -Orphanet:238744 Mammary-digital-nail syndrome False False False -Orphanet:238750 4q21 microdeletion syndrome False False False -Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea False False False -Orphanet:238769 1q44 microdeletion syndrome False False False -Orphanet:2388 Choreoacanthocytosis False False False -Orphanet:239 Dyggve-Melchior-Clausen disease False False False -Orphanet:2390 Lichtenstein syndrome False False False -Orphanet:2391 Congenitally short costocoracoid ligament False False False -Orphanet:2394 Pyruvate dehydrogenase E3 deficiency False False False -Orphanet:2396 Encephalocraniocutaneous lipomatosis False False False -Orphanet:2398 Multiple symmetric lipomatosis False False False -Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome False False False -Orphanet:24 Fumaric aciduria False False False -Orphanet:240 Léri-Weill dyschondrosteosis False False False -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome False False False -Orphanet:240071 Classic progressive supranuclear palsy syndrome False False False -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome False False False -Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome False False False -Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome False False False -Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome False False False -Orphanet:240371 Syndromic obesity False False False -Orphanet:2404 Loiasis False False False -Orphanet:2405 Thickened earlobes-conductive deafness syndrome False False False -Orphanet:2406 Locked-in syndrome False False False -Orphanet:2407 Laryngo-onycho-cutaneous syndrome False False False -Orphanet:240760 Nijmegen breakage syndrome-like disorder False False False -Orphanet:2408 Lowe-Kohn-Cohen syndrome False False False -Orphanet:240839 Prediction of 5-fluorouracil toxicity False False False -Orphanet:240841 Prediction of abacavir toxicity False False False -Orphanet:240845 Prediction of allopurinol toxicity False False False -Orphanet:240863 Prediction of cisplatin toxicity False False False -Orphanet:240867 Prediction of codeine toxicity False False False -Orphanet:240869 Prediction of efavirenz toxicity False False False -Orphanet:240871 Prediction of flucloxacilline toxicity False False False -Orphanet:240885 Prediction of irinotecan toxicity False False False -Orphanet:240887 Prediction of isoniazid toxicity False False False -Orphanet:2409 Lowry-MacLean syndrome False False False -Orphanet:240905 Prediction of raltegravir toxicity False False False -Orphanet:240921 Prediction of voriconazole toxicity False False False -Orphanet:241 Dyschromatosis universalis hereditaria False False False -Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome False False False -Orphanet:2412 Dislocation of the hip-dysmorphism syndrome False False False -Orphanet:2414 Congenital pulmonary lymphangiectasia False False False -Orphanet:2415 Rare lymphatic malformation False False False -Orphanet:242 46,XY complete gonadal dysgenesis False False False -Orphanet:2420 Primary pulmonary lymphoma False False False -Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome False False False -Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome False False False -Orphanet:243 46,XX gonadal dysgenesis False False False -Orphanet:2430 Congenital macroglossia False False False -Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome False False False -Orphanet:243343 Dimethylglycine dehydrogenase deficiency False False False -Orphanet:243367 Acute fatty liver of pregnancy False False False -Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome False False False -Orphanet:2437 Czeizel-Losonci syndrome False False False -Orphanet:2438 Hand-foot-genital syndrome False False False -Orphanet:2439 Patterson-Stevenson-Fontaine syndrome False False False -Orphanet:244 Primary ciliary dyskinesia False False False -Orphanet:2440 Isolated split hand-split foot malformation False False False -Orphanet:244242 HELLP syndrome False False False -Orphanet:244283 Biliary atresia with splenic malformation syndrome False False False -Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies False False False -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis False False False -Orphanet:244310 RFT1-CDG False False False -Orphanet:2444 Congenital pulmonary airway malformation False False False -Orphanet:2445 Conotruncal heart malformations False False False -Orphanet:2447 Congenital mitral malformation False False False -Orphanet:245 Nager syndrome False False False -Orphanet:2451 Mucocutaneous venous malformations False False False -Orphanet:2456 Familial supernumerary nipples False False False -Orphanet:2457 Mandibuloacral dysplasia False False False -Orphanet:2459 Mansonelliasis False False False -Orphanet:246 Postaxial acrofacial dysostosis False False False -Orphanet:2460 Van den Ende-Gupta syndrome False False False -Orphanet:2461 Marden-Walker syndrome False False False -Orphanet:2462 Shprintzen-Goldberg syndrome False False False -Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome False False False -Orphanet:2464 Marfanoid syndrome, De Silva type False False False -Orphanet:2466 MASA syndrome False False False -Orphanet:2467 Systemic mastocytosis False False False -Orphanet:2470 Matthew-Wood syndrome False False False -Orphanet:2471 McDonough syndrome False False False -Orphanet:247165 Infantile mercury poisoning False False False -Orphanet:247198 Progressive cerebello-cerebral atrophy False False False -Orphanet:247203 Collecting duct carcinoma False False False -Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology False False False -Orphanet:247239 Non-hereditary degenerative ataxia False False False -Orphanet:247242 Acquired ataxia False False False -Orphanet:247245 Superficial siderosis False False False -Orphanet:247257 Inhalational anthrax False False False -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome False False False -Orphanet:2473 McKusick-Kaufman syndrome False False False -Orphanet:247353 Generalized pustular psoriasis False False False -Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene False False False -Orphanet:2475 White forelock with malformations False False False -Orphanet:247511 Autosomal dominant secondary polycythemia False False False -Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome False False False -Orphanet:247525 Citrullinemia type I False False False -Orphanet:247546 Acute neonatal citrullinemia type I False False False -Orphanet:247573 Late-onset citrullinemia type I False False False -Orphanet:247582 Citrin deficiency False False False -Orphanet:247585 Citrullinemia type II False False False -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency False False False -Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome False False False -Orphanet:247604 Juvenile primary lateral sclerosis False False False -Orphanet:247623 Perinatal lethal hypophosphatasia False False False -Orphanet:247638 Prenatal benign hypophosphatasia False False False -Orphanet:247651 Infantile hypophosphatasia False False False -Orphanet:247667 Childhood-onset hypophosphatasia False False False -Orphanet:247676 Adult hypophosphatasia False False False -Orphanet:247685 Odontohypophosphatasia False False False -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations False False False -Orphanet:247698 Multiple endocrine neoplasia type 2A False False False -Orphanet:2477 Megalencephaly False False False -Orphanet:247709 Multiple endocrine neoplasia type 2B False False False -Orphanet:247718 Inflammatory myopathy with abundant macrophages False False False -Orphanet:247724 Idiopathic eosinophilic myositis False False False -Orphanet:247762 Lipoblastoma False False False -Orphanet:247765 X-linked cerebellar ataxia False False False -Orphanet:247768 Müllerian aplasia and hyperandrogenism False False False -Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 False False False -Orphanet:247790 FTH1-related iron overload False False False -Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome False False False -Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis False False False -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts False False False -Orphanet:247806 APC-related attenuated familial adenomatous polyposis False False False -Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency False False False -Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome False False False -Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome False False False -Orphanet:247834 Occult macular dystrophy False False False -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome False False False -Orphanet:2479 Megalocornea-intellectual disability syndrome False False False -Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia False False False -Orphanet:248095 Primary hypertrophic osteoarthropathy False False False -Orphanet:2481 Neurocutaneous melanocytosis False False False -Orphanet:248111 Juvenile Huntington disease False False False -Orphanet:2482 Melhem-Fahl syndrome False False False -Orphanet:248293 Rare deficiency anemia False False False -Orphanet:248296 Constitutional deficiency anemia False False False -Orphanet:2483 Melkersson-Rosenthal syndrome False False False -Orphanet:248302 Rare acquired deficiency anemia False False False -Orphanet:248308 Rare hemorrhagic disorder False False False -Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect False False False -Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly False False False -Orphanet:248340 Isolated delta-storage pool disease False False False -Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly False False False -Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect False False False -Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect False False False -Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect False False False -Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly False False False -Orphanet:2484 Melnick-Needles syndrome False False False -Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly False False False -Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly False False False -Orphanet:248408 Familial hypodysfibrinogenemia False False False -Orphanet:2485 Melorheostosis False False False -Orphanet:2487 Lower limb malformation-hypospadias syndrome False False False -Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome False False False -Orphanet:249 Fibrous dysplasia of bone False False False -Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome False False False -Orphanet:2492 FATCO syndrome False False False -Orphanet:2494 Ménétrier disease False False False -Orphanet:2495 Meningioma False False False -Orphanet:2496 Mesomelia-synostoses syndrome False False False -Orphanet:2497 Upper limb mesomelic dysplasia False False False -Orphanet:2498 Syndactyly type 8 False False False -Orphanet:2499 Metachondromatosis False False False -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency False False False -Orphanet:250 Frontonasal dysplasia False False False -Orphanet:2500 Acrogeria False False False -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type False False False -Orphanet:250165 Genetic polycythemia False False False -Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome False False False -Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome False False False -Orphanet:2505 Multiple benign circumferential skin creases on limbs False False False -Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome False False False -Orphanet:250805 Serpinopathy False False False -Orphanet:250808 Serpinopathy with toxic serpin polymerization False False False -Orphanet:250811 Serpinopathy with loss of serpin function False False False -Orphanet:250831 Logopenic progressive aphasia False False False -Orphanet:250908 Rare neoplastic disease False False False -Orphanet:250923 Isolated aniridia False False False -Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy False False False -Orphanet:250972 Polymicrogyria with optic nerve hypoplasia False False False -Orphanet:250977 AICA-ribosiduria False False False -Orphanet:250984 Autosomal recessive Stickler syndrome False False False -Orphanet:250989 1q21.1 microdeletion syndrome False False False -Orphanet:250994 1q21.1 microduplication syndrome False False False -Orphanet:250999 1q41q42 microdeletion syndrome False False False -Orphanet:251 Multiple epiphyseal dysplasia False False False -Orphanet:2510 Micro syndrome False False False -Orphanet:251004 Paternal uniparental disomy of chromosome 1 False False False -Orphanet:251009 Maternal uniparental disomy of chromosome 1 False False False -Orphanet:251014 2q31.1 microdeletion syndrome False False False -Orphanet:251019 2q32q33 microdeletion syndrome False False False -Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement False False False -Orphanet:251038 3q29 microduplication syndrome False False False -Orphanet:251043 Ring chromosome 5 syndrome False False False -Orphanet:251046 6p22 microdeletion syndrome False False False -Orphanet:251056 6q25 microdeletion syndrome False False False -Orphanet:251061 7q31 microdeletion syndrome False False False -Orphanet:251066 8p11.2 deletion syndrome False False False -Orphanet:251071 8p23.1 microdeletion syndrome False False False -Orphanet:251076 8p23.1 duplication syndrome False False False -Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome False False False -Orphanet:2512 Autosomal recessive primary microcephaly False False False -Orphanet:251262 Familial osteochondritis dissecans False False False -Orphanet:251274 Familial hyperaldosteronism type III False False False -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome False False False -Orphanet:251282 Autosomal dominant spastic ataxia type 1 False False False -Orphanet:251287 Benign concentric annular macular dystrophy False False False -Orphanet:251290 Parietal foramina with clavicular hypoplasia False False False -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy False False False -Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome False False False -Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis False False False -Orphanet:251307 Idiopathic recurrent pericarditis False False False -Orphanet:251312 Overlapping connective tissue disease False False False -Orphanet:251325 Drug-induced vasculitis False False False -Orphanet:251328 Unclassified vasculitis False False False -Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome False False False -Orphanet:251347 Ataxia-telangiectasia-like disorder False False False -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome False False False -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome False False False -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome False False False -Orphanet:251375 Sickle cell-hemoglobin E disease syndrome False False False -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome False False False -Orphanet:251383 CK syndrome False False False -Orphanet:251393 Localized junctional epidermolysis bullosa False False False -Orphanet:2514 Autosomal dominant primary microcephaly False False False -Orphanet:2515 Microcephaly-cardiomyopathy syndrome False False False -Orphanet:251510 46,XY partial gonadal dysgenesis False False False -Orphanet:251515 Distal arthrogryposis type 10 False False False -Orphanet:251523 Hyperzincemia and hypercalprotectinemia False False False -Orphanet:251529 Toxic or drug-related embryofetopathy False False False -Orphanet:251535 Maternal disease-related embryofetopathy False False False -Orphanet:251558 Rare tumor of neuroepithelial tissue False False False -Orphanet:251561 High-grade astrocytoma False False False -Orphanet:251576 Gliosarcoma False False False -Orphanet:251579 Giant cell glioblastoma False False False -Orphanet:251582 Gliomatosis cerebri False False False -Orphanet:251589 Anaplastic astrocytoma False False False -Orphanet:251592 Low-grade astrocytoma False False False -Orphanet:251595 Diffuse astrocytoma False False False -Orphanet:251598 Protoplasmic astrocytoma False False False -Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome False False False -Orphanet:251601 Fibrillary astrocytoma False False False -Orphanet:251604 Gemistocytic astrocytoma False False False -Orphanet:251607 Pleomorphic xanthoastrocytoma False False False -Orphanet:251612 Pilocytic astrocytoma False False False -Orphanet:251615 Pilomyxoid astrocytoma False False False -Orphanet:251618 Subependymal giant cell astrocytoma False False False -Orphanet:251623 Pituicytoma False False False -Orphanet:251627 Oligodendroglioma False False False -Orphanet:251630 Anaplastic oligodendroglioma False False False -Orphanet:251636 Ependymoma False False False -Orphanet:251639 Subependymoma False False False -Orphanet:251643 Myxopapillary ependymoma False False False -Orphanet:251646 Anaplastic ependymoma False False False -Orphanet:251651 Oligoastrocytic tumor False False False -Orphanet:251656 Oligoastrocytoma False False False -Orphanet:251663 Anaplastic oligoastrocytoma False False False -Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin False False False -Orphanet:251671 Angiocentric glioma False False False -Orphanet:251674 Chordoid glioma False False False -Orphanet:251679 Astroblastoma False False False -Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome False False False -Orphanet:251852 Embryonal tumor of neuroepithelial tissue False False False -Orphanet:251855 Anaplastic/large cell medulloblastoma False False False -Orphanet:251858 Medulloblastoma with extensive nodularity False False False -Orphanet:251863 Desmoplastic/nodular medulloblastoma False False False -Orphanet:251867 Classic medulloblastoma False False False -Orphanet:251870 Central nervous system embryonal tumor False False False -Orphanet:251877 Ganglioneuroblastoma False False False -Orphanet:251880 Ependymoblastoma False False False -Orphanet:251883 Medulloepithelioma of the central nervous system False False False -Orphanet:251896 Choroid plexus tumor False False False -Orphanet:251899 Choroid plexus carcinoma False False False -Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome False False False -Orphanet:251902 Atypical papilloma of choroid plexus False False False -Orphanet:251905 Pineal tumor of neuroepithelial tissue False False False -Orphanet:251909 Pineoblastoma False False False -Orphanet:251912 Pineocytoma False False False -Orphanet:251915 Papillary tumor of the pineal region False False False -Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation False False False -Orphanet:251924 Neuronal tumor False False False -Orphanet:251927 Extraventricular neurocytoma False False False -Orphanet:251931 Cerebellar liponeurocytoma False False False -Orphanet:251934 Mixed neuronal-glial tumor False False False -Orphanet:251937 Gangliocytoma False False False -Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma False False False -Orphanet:251946 Dysembryoplastic neuroepithelial tumor False False False -Orphanet:251949 Ganglioglioma False False False -Orphanet:251957 Anaplastic ganglioglioma False False False -Orphanet:251962 Papillary glioneuronal tumor False False False -Orphanet:251975 Rosette-forming glioneuronal tumor False False False -Orphanet:251992 Ganglioneuroma False False False -Orphanet:252006 Yolk sac tumor of central nervous system False False False -Orphanet:252015 Choriocarcinoma of the central nervous system False False False -Orphanet:252018 Teratoma of the central nervous system False False False -Orphanet:252021 Mixed germ cell tumor of central nervous system False False False -Orphanet:252025 Tumor of meninges False False False -Orphanet:252028 Primary melanocytic tumor of central nervous system False False False -Orphanet:252031 Diffuse leptomeningeal melanocytosis False False False -Orphanet:252046 Meningeal melanocytoma False False False -Orphanet:252050 Primary melanoma of the central nervous system False False False -Orphanet:252054 Hemangioblastoma False False False -Orphanet:252057 Tumor of cranial and spinal nerves False False False -Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome False False False -Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation False False False -Orphanet:252131 Benign peripheral nerve sheath tumor False False False -Orphanet:252164 Benign schwannoma False False False -Orphanet:252175 Vestibular schwannoma False False False -Orphanet:252183 Neurofibroma False False False -Orphanet:252190 Inherited nervous system cancer-predisposing syndrome False False False -Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome False False False -Orphanet:252202 Constitutional mismatch repair deficiency syndrome False False False -Orphanet:252206 Melanoma and neural system tumor syndrome False False False -Orphanet:252212 Malignant triton tumor False False False -Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome False False False -Orphanet:2524 Pontocerebellar hypoplasia type 2 False False False -Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome False False False -Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type False False False -Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome False False False -Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome False False False -Orphanet:2538 Microgastria-limb reduction defect syndrome False False False -Orphanet:254 Spondylometaphyseal dysplasia False False False -Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B False False False -Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome False False False -Orphanet:254346 19p13.12 microdeletion syndrome False False False -Orphanet:254351 Distal 7q11.23 microdeletion syndrome False False False -Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 False False False -Orphanet:254367 Rare lichen planus False False False -Orphanet:254370 Rare cutaneous lichen planus False False False -Orphanet:254373 Rare mucosal lichen planus False False False -Orphanet:254379 Linear lichen planus False False False -Orphanet:254395 Actinic lichen planus False False False -Orphanet:254411 Annular atrophic lichen planus False False False -Orphanet:254424 Annular lichen planus False False False -Orphanet:254449 Atrophic lichen planus False False False -Orphanet:254463 Lichen planus pigmentosus False False False -Orphanet:254478 Lichen planus pemphigoides False False False -Orphanet:254492 Frontal fibrosing alopecia False False False -Orphanet:254504 Inhalational botulism False False False -Orphanet:254509 Iatrogenic botulism False False False -Orphanet:254516 Temple syndrome False False False -Orphanet:254519 Kagami-Ogata syndrome False False False -Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion False False False -Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion False False False -Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation False False False -Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation False False False -Orphanet:254685 Gestational trophoblastic disease False False False -Orphanet:254688 Complete hydatidiform mole False False False -Orphanet:254693 Partial hydatidiform mole False False False -Orphanet:254698 Epithelioid trophoblastic tumor False False False -Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome False False False -Orphanet:254704 Genetic hyperferritinemia without iron overload False False False -Orphanet:254746 Pyruvate metabolism disorder False False False -Orphanet:254749 Tricarboxylic acid cycle disorder False False False -Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies False False False -Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA False False False -Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA False False False -Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy False False False -Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form False False False -Orphanet:254807 Multiple mitochondrial DNA deletion syndrome False False False -Orphanet:254818 Ataxia neuropathy spectrum False False False -Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism False False False -Orphanet:254827 Mitochondrial membrane transport disorder False False False -Orphanet:254830 Mitochondrial substrate carrier disorder False False False -Orphanet:254834 Mitochondrial protein import disorder False False False -Orphanet:254837 Unspecified mitochondrial disorder False False False -Orphanet:254843 Exercise intolerance with lactic acidosis False False False -Orphanet:254846 Isolated oxidative phosphorylation complex disorder False False False -Orphanet:254851 Mitochondrial DNA-related dystonia False False False -Orphanet:254854 Pure mitochondrial myopathy False False False -Orphanet:254857 Lethal infantile mitochondrial myopathy False False False -Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency False False False -Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form False False False -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form False False False -Orphanet:254881 Spinocerebellar ataxia with epilepsy False False False -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia False False False -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia False False False -Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome False False False -Orphanet:2549 Oculoauriculovertebral spectrum with radial defects False False False -Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome False False False -Orphanet:254905 Isolated cytochrome C oxidase deficiency False False False -Orphanet:254913 Isolated ATP synthase deficiency False False False -Orphanet:254920 Combined oxidative phosphorylation defect type 2 False False False -Orphanet:254925 Combined oxidative phosphorylation defect type 4 False False False -Orphanet:254930 Combined oxidative phosphorylation defect type 7 False False False -Orphanet:255 Dopa-responsive dystonia False False False -Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome False False False -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia False False False -Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency False False False -Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency False False False -Orphanet:2552 Microsporidiosis False False False -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome False False False -Orphanet:255229 Navajo neurohepatopathy False False False -Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy False False False -Orphanet:2554 Ear-patella-short stature syndrome False False False -Orphanet:2556 Microphthalmia with linear skin defects syndrome False False False -Orphanet:2557 Mietens syndrome False False False -Orphanet:2558 Mikati-Najjar-Sahli syndrome False False False -Orphanet:256 Early-onset generalized limb-onset dystonia False False False -Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome False False False -Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome False False False -Orphanet:2563 MOMO syndrome False False False -Orphanet:2564 Tetramelic monodactyly False False False -Orphanet:2565 Mononen-Karnes-Senac syndrome False False False -Orphanet:2566 Chronic Epstein-Barr virus infection syndrome False False False -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy False False False -Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome False False False -Orphanet:2571 X-linked immunoneurologic disorder False False False -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome False False False -Orphanet:2573 Moyamoya disease False False False -Orphanet:2574 Moynahan syndrome False False False -Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome False False False -Orphanet:2576 Mulibrey nanism False False False -Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 False False False -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome False False False -Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy False False False -Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan False False False -Orphanet:2583 Mycetoma False False False -Orphanet:2584 Classic mycosis fungoides False False False -Orphanet:2585 Ataxia-pancytopenia syndrome False False False -Orphanet:2587 Myeloperoxidase deficiency False False False -Orphanet:2588 Myhre syndrome False False False -Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome False False False -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome False False False -Orphanet:2591 Infantile myofibromatosis False False False -Orphanet:2593 Tubular aggregate myopathy False False False -Orphanet:2596 Myopathy and diabetes mellitus False False False -Orphanet:25968 Benign occipital epilepsy False False False -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome False False False -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia False False False -Orphanet:25980 X-linked myopathy with excessive autophagy False False False -Orphanet:26 Methylmalonic acidemia with homocystinuria False False False -Orphanet:260305 Autosomal recessive sideroblastic anemia False False False -Orphanet:2604 Familial visceral myopathy False False False -Orphanet:2608 N syndrome False False False -Orphanet:2609 Isolated complex I deficiency False False False -Orphanet:261 Emery-Dreifuss muscular dystrophy False False False -Orphanet:26106 Hereditary diffuse gastric cancer False False False -Orphanet:2611 Linear verrucous nevus syndrome False False False -Orphanet:261102 Distal 7q11.23 microduplication syndrome False False False -Orphanet:261112 Monosomy 9p False False False -Orphanet:261120 14q11.2 microdeletion syndrome False False False -Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion False False False -Orphanet:261183 15q11.2 microdeletion syndrome False False False -Orphanet:261190 15q14 microdeletion syndrome False False False -Orphanet:261197 Proximal 16p11.2 microdeletion syndrome False False False -Orphanet:2612 Linear nevus sebaceus syndrome False False False -Orphanet:261204 16p11.2p12.2 microduplication syndrome False False False -Orphanet:261211 16p11.2p12.2 microdeletion syndrome False False False -Orphanet:261222 Distal 16p11.2 microdeletion syndrome False False False -Orphanet:261229 14q11.2 microduplication syndrome False False False -Orphanet:261236 16p13.11 microdeletion syndrome False False False -Orphanet:261243 16p13.11 microduplication syndrome False False False -Orphanet:261250 16q24.3 microdeletion syndrome False False False -Orphanet:261257 Distal 17p13.3 microdeletion syndrome False False False -Orphanet:261265 17q12 microdeletion syndrome False False False -Orphanet:261272 17q12 microduplication syndrome False False False -Orphanet:261279 17q23.1q23.2 microdeletion syndrome False False False -Orphanet:261290 Trisomy 17p False False False -Orphanet:261295 20p12.3 microdeletion syndrome False False False -Orphanet:2613 Nail-patella-like renal disease False False False -Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome False False False -Orphanet:261311 20q13.33 microdeletion syndrome False False False -Orphanet:261318 Trisomy 20p False False False -Orphanet:261323 21q22.11q22.12 microdeletion syndrome False False False -Orphanet:261330 Distal 22q11.2 microdeletion syndrome False False False -Orphanet:261337 Distal 22q11.2 microduplication syndrome False False False -Orphanet:261344 Trisomy 1q False False False -Orphanet:261349 2p15p16.1 microdeletion syndrome False False False -Orphanet:26137 Juvenile temporal arteritis False False False -Orphanet:2614 Nail-patella syndrome False False False -Orphanet:261476 Xp21 deletion syndrome False False False -Orphanet:261483 Xq27.3q28 duplication syndrome False False False -Orphanet:261494 Kleefstra syndrome False False False -Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion False False False -Orphanet:261519 Maternal uniparental disomy of chromosome X False False False -Orphanet:261524 Paternal uniparental disomy of chromosome X False False False -Orphanet:261529 Ring chromosome Y syndrome False False False -Orphanet:261534 49,XXXYY syndrome False False False -Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 False False False -Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation False False False -Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion False False False -Orphanet:2616 3M syndrome False False False -Orphanet:261600 Alagille syndrome due to 20p12 microdeletion False False False -Orphanet:261619 Alagille syndrome due to a JAG1 point mutation False False False -Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation False False False -Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion False False False -Orphanet:261647 Okihiro syndrome due to a point mutation False False False -Orphanet:261652 Kleefstra syndrome due to a point mutation False False False -Orphanet:2617 Microcephalic primordial dwarfism, Montreal type False False False -Orphanet:261766 Partial deletion of chromosome 1 False False False -Orphanet:261771 Partial deletion of chromosome 2 False False False -Orphanet:261776 Partial deletion of chromosome 3 False False False -Orphanet:261781 Partial deletion of chromosome 4 False False False -Orphanet:261786 Partial deletion of chromosome 5 False False False -Orphanet:261791 Partial deletion of chromosome 6 False False False -Orphanet:261796 Partial deletion of chromosome 7 False False False -Orphanet:261801 Partial deletion of chromosome 8 False False False -Orphanet:261806 Partial deletion of chromosome 9 False False False -Orphanet:261811 Partial deletion of chromosome 10 False False False -Orphanet:261816 Partial deletion of chromosome 11 False False False -Orphanet:261821 Partial deletion of the long arm of chromosome 12 False False False -Orphanet:261826 Partial deletion of chromosome 16 False False False -Orphanet:261831 Partial deletion of chromosome 17 False False False -Orphanet:261836 Partial deletion of chromosome 18 False False False -Orphanet:261841 Partial deletion of chromosome 19 False False False -Orphanet:261846 Partial deletion of chromosome 20 False False False -Orphanet:261857 Partial deletion of the short arm of chromosome 1 False False False -Orphanet:261866 Partial deletion of the short arm of chromosome 2 False False False -Orphanet:261875 Partial deletion of the short arm of chromosome 3 False False False -Orphanet:261884 Partial deletion of the short arm of chromosome 4 False False False -Orphanet:261893 Partial deletion of the short arm of chromosome 5 False False False -Orphanet:2619 Brachydactylous dwarfism, Mseleni type False False False -Orphanet:261902 Partial deletion of the short arm of chromosome 6 False False False -Orphanet:261911 Partial deletion of the short arm of chromosome 7 False False False -Orphanet:261920 Partial deletion of the short arm of chromosome 8 False False False -Orphanet:261929 Partial deletion of the short arm of chromosome 9 False False False -Orphanet:261938 Partial deletion of the short arm of chromosome 10 False False False -Orphanet:261947 Partial deletion of the short arm of chromosome 11 False False False -Orphanet:261956 Partial deletion of the short arm of chromosome 16 False False False -Orphanet:261965 Partial deletion of the short arm of chromosome 17 False False False -Orphanet:261974 Partial deletion of the short arm of chromosome 18 False False False -Orphanet:261983 Partial deletion of the short arm of chromosome 19 False False False -Orphanet:261992 Partial deletion of the short arm of chromosome 20 False False False -Orphanet:262001 Partial deletion of the long arm of chromosome 1 False False False -Orphanet:262010 Partial deletion of the long arm of chromosome 2 False False False -Orphanet:262019 Partial deletion of the long arm of chromosome 3 False False False -Orphanet:262029 Partial deletion of the long arm of chromosome 4 False False False -Orphanet:262038 Partial deletion of the long arm of chromosome 5 False False False -Orphanet:262047 Partial deletion of the long arm of chromosome 6 False False False -Orphanet:262056 Partial deletion of the long arm of chromosome 7 False False False -Orphanet:262065 Partial deletion of the long arm of chromosome 8 False False False -Orphanet:262074 Partial deletion of the long arm of chromosome 9 False False False -Orphanet:262083 Partial deletion of the long arm of chromosome 10 False False False -Orphanet:262092 Partial deletion of the long arm of chromosome 11 False False False -Orphanet:262101 Partial deletion of the long arm of chromosome 13 False False False -Orphanet:262110 Partial deletion of the long arm of chromosome 14 False False False -Orphanet:262119 Partial deletion of the long arm of chromosome 15 False False False -Orphanet:262128 Partial deletion of the long arm of chromosome 16 False False False -Orphanet:262137 Partial deletion of the long arm of chromosome 17 False False False -Orphanet:262146 Partial deletion of the long arm of chromosome 18 False False False -Orphanet:262155 Partial deletion of the long arm of chromosome 19 False False False -Orphanet:262164 Partial deletion of the long arm of chromosome 20 False False False -Orphanet:262173 Partial deletion of the long arm of chromosome 21 False False False -Orphanet:262182 Partial deletion of the long arm of chromosome 22 False False False -Orphanet:262191 Partial duplication of chromosome 1 False False False -Orphanet:262196 Partial duplication of chromosome 2 False False False -Orphanet:262201 Partial duplication of chromosome 3 False False False -Orphanet:262206 Partial duplication of chromosome 4 False False False -Orphanet:262211 Partial duplication/triplication of chromosome 5 False False False -Orphanet:2623 Geleophysic dysplasia False False False -Orphanet:262628 Partial duplication of chromosome 6 False False False -Orphanet:262633 Partial duplication of chromosome 7 False False False -Orphanet:262638 Partial duplication of chromosome 8 False False False -Orphanet:262643 Partial duplication/triplication of chromosome 9 False False False -Orphanet:262648 Partial duplication of chromosome 10 False False False -Orphanet:262653 Partial duplication of chromosome 11 False False False -Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 False False False -Orphanet:262672 Partial duplication of chromosome 16 False False False -Orphanet:262677 Partial duplication of chromosome 17 False False False -Orphanet:262682 Partial duplication/triplication of chromosome 18 False False False -Orphanet:262687 Partial duplication of chromosome 19 False False False -Orphanet:262692 Partial duplication of chromosome 20 False False False -Orphanet:262698 Partial duplication of the short arm of chromosome 2 False False False -Orphanet:262707 Partial duplication of the short arm of chromosome 3 False False False -Orphanet:262716 Partial duplication of the short arm of chromosome 4 False False False -Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 False False False -Orphanet:262740 Partial duplication of the short arm of chromosome 6 False False False -Orphanet:262749 Partial duplication of the short arm of chromosome 7 False False False -Orphanet:262758 Partial duplication of the short arm of chromosome 8 False False False -Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 False False False -Orphanet:262776 Partial duplication of the short arm of chromosome 10 False False False -Orphanet:262785 Partial duplication of the short arm of chromosome 11 False False False -Orphanet:262794 Partial duplication of the short arm of chromosome 16 False False False -Orphanet:262803 Partial duplication of the short arm of chromosome 17 False False False -Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 False False False -Orphanet:262833 Partial duplication of the long arm of chromosome 1 False False False -Orphanet:262842 Partial duplication of the long arm of chromosome 2 False False False -Orphanet:262851 Partial duplication of the long arm of chromosome 3 False False False -Orphanet:262860 Partial duplication of the long arm of chromosome 4 False False False -Orphanet:262869 Partial duplication of the long arm of chromosome 5 False False False -Orphanet:262878 Partial duplication of the long arm of chromosome 6 False False False -Orphanet:262887 Partial duplication of the long arm of chromosome 7 False False False -Orphanet:262896 Partial duplication of the long arm of chromosome 8 False False False -Orphanet:262905 Partial duplication of the long arm of chromosome 9 False False False -Orphanet:262914 Partial duplication of the long arm of chromosome 10 False False False -Orphanet:262923 Partial duplication of the long arm of chromosome 11 False False False -Orphanet:262932 Partial duplication of the long arm of chromosome 13 False False False -Orphanet:262941 Partial duplication of the long arm of chromosome 14 False False False -Orphanet:262950 Partial duplication of the long arm of chromosome 15 False False False -Orphanet:262959 Partial duplication of the long arm of chromosome 16 False False False -Orphanet:262968 Partial duplication of the long arm of chromosome 17 False False False -Orphanet:262977 Partial duplication of the long arm of chromosome 18 False False False -Orphanet:262986 Partial duplication of the long arm of chromosome 19 False False False -Orphanet:262995 Partial duplication of the long arm of chromosome 20 False False False -Orphanet:263 Limb-girdle muscular dystrophy False False False -Orphanet:263004 Partial duplication of the long arm of chromosome 22 False False False -Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome False False False -Orphanet:2632 Langer mesomelic dysplasia False False False -Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency False False False -Orphanet:2633 Mesomelic dysplasia, Nievergelt type False False False -Orphanet:263310 Thymoma type A False False False -Orphanet:263317 Thymoma type B False False False -Orphanet:263324 Thymoma type AB False False False -Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma False False False -Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma False False False -Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma False False False -Orphanet:263347 MRCS syndrome False False False -Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type False False False -Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome False False False -Orphanet:263413 Angiosarcoma False False False -Orphanet:263425 Nevus of Ota False False False -Orphanet:263432 Nevus of Ito False False False -Orphanet:263435 Congenital smooth muscle hamartoma False False False -Orphanet:263440 Neuroacanthocytosis False False False -Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency False False False -Orphanet:263458 Hyperinsulinism due to INSR deficiency False False False -Orphanet:263463 CHST3-related skeletal dysplasia False False False -Orphanet:263479 Fuchs heterochromic iridocyclitis False False False -Orphanet:26348 Acquired prothrombin deficiency False False False -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type False False False -Orphanet:263487 COG5-CDG False False False -Orphanet:26349 Protein S acquired deficiency False False False -Orphanet:263494 DPM3-CDG False False False -Orphanet:2635 Metatropic dysplasia False False False -Orphanet:263501 COG4-CDG False False False -Orphanet:263508 COG1-CDG False False False -Orphanet:263516 Progressive myoclonic epilepsy type 3 False False False -Orphanet:263524 Acute necrotizing encephalopathy of childhood False False False -Orphanet:263534 Acral peeling skin syndrome False False False -Orphanet:263543 Generalized peeling skin syndrome False False False -Orphanet:263548 Peeling skin syndrome type A False False False -Orphanet:263553 Peeling skin syndrome type B False False False -Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III False False False -Orphanet:263662 Familial multiple meningioma False False False -Orphanet:263665 NK-cell enteropathy False False False -Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II False False False -Orphanet:263708 Complex chromosomal rearrangement False False False -Orphanet:263714 X chromosome number anomaly False False False -Orphanet:263717 X chromosome number anomaly with female phenotype False False False -Orphanet:263720 X chromosome number anomaly with male phenotype False False False -Orphanet:263723 Polysomy of X chromosome False False False -Orphanet:263726 Partial deletion of chromosome X False False False -Orphanet:263731 Partial deletion of the short arm of the chromosome X False False False -Orphanet:263746 Y chromosome number anomaly False False False -Orphanet:263749 X and Y chromosomal anomaly False False False -Orphanet:263756 Partial deletion of the long arm of chromosome X False False False -Orphanet:263768 Partial duplication of chromosome X False False False -Orphanet:263775 Partial duplication of the short arm of chromosome X False False False -Orphanet:263783 Partial duplication of the long arm of chromosome X False False False -Orphanet:263793 Uniparental disomy of chromosome X False False False -Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome False False False -Orphanet:264200 14q22q23 microdeletion syndrome False False False -Orphanet:2643 Microcephalic primordial dwarfism, Toriello type False False False -Orphanet:264431 Partial duplication of the short arm of chromosome 1 False False False -Orphanet:264450 Trisomy 8p False False False -Orphanet:2645 Osteoglosphonic dysplasia False False False -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency False False False -Orphanet:2646 Parastremmatic dwarfism False False False -Orphanet:264675 Hereditary pulmonary alveolar proteinosis False False False -Orphanet:264688 Congenital chylothorax False False False -Orphanet:264691 Isolated pulmonary capillaritis False False False -Orphanet:264978 Drug or radiation exposure-related interstitial lung disease False False False -Orphanet:264992 Genetic interstitial lung disease False False False -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome False False False -Orphanet:2655 Thanatophoric dysplasia False False False -Orphanet:2658 Lenz-Majewski hyperostotic dwarfism False False False -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A False False False -Orphanet:2662 Keipert syndrome False False False -Orphanet:2663 Nathalie syndrome False False False -Orphanet:2665 Congenital mesoblastic nephroma False False False -Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome False False False -Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome False False False -Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome False False False -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 False False False -Orphanet:2670 Pierson syndrome False False False -Orphanet:2671 Neu-Laxova syndrome False False False -Orphanet:2672 Neuhauser-Eichner-Opitz syndrome False False False -Orphanet:2673 Neurofaciodigitorenal syndrome False False False -Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome False False False -Orphanet:2678 Familial isolated café-au-lait macules False False False -Orphanet:26790 Pseudomyxoma peritonei False False False -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency False False False -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency False False False -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency False False False -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 False False False -Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome False False False -Orphanet:268114 RAS-associated autoimmune leukoproliferative disease False False False -Orphanet:268129 Spheroid body myopathy False False False -Orphanet:268139 Intraocular medulloepithelioma False False False -Orphanet:268145 Classic maple syrup urine disease False False False -Orphanet:268162 Intermediate maple syrup urine disease False False False -Orphanet:268173 Intermittent maple syrup urine disease False False False -Orphanet:268184 Thiamine-responsive maple syrup urine disease False False False -Orphanet:268249 Mycophenolate mofetil embryopathy False False False -Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion False False False -Orphanet:268322 Hereditary thrombocytopenia with normal platelets False False False -Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease False False False -Orphanet:268357 Neural tube closure defect False False False -Orphanet:268363 Open iniencephaly False False False -Orphanet:268366 Closed iniencephaly False False False -Orphanet:268369 Open spinal dysraphism False False False -Orphanet:2686 Cyclic neutropenia False False False -Orphanet:268744 Spinal dysraphism with a posterior meningocele False False False -Orphanet:2688 Adult idiopathic neutropenia False False False -Orphanet:268810 Isolated posterior meningocele False False False -Orphanet:268813 Myelocystocele False False False -Orphanet:268817 Cephalocele False False False -Orphanet:268820 Cranial meningocele False False False -Orphanet:268823 Occipital encephalocele False False False -Orphanet:268826 Parietal encephalocele False False False -Orphanet:268829 Basal encephalocele False False False -Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column False False False -Orphanet:268861 Primary tethered cord syndrome False False False -Orphanet:268865 Neurenteric cyst False False False -Orphanet:268868 Isolated amyelia False False False -Orphanet:268882 Arnold-Chiari malformation type I False False False -Orphanet:268920 Isolated megalencephaly False False False -Orphanet:268926 Midline cerebral malformation False False False -Orphanet:268936 Isolated arhinencephaly False False False -Orphanet:268940 Bilateral polymicrogyria False False False -Orphanet:268943 Unilateral polymicrogyria False False False -Orphanet:268947 Unilateral focal polymicrogyria False False False -Orphanet:268950 Cerebral cortical dysplasia False False False -Orphanet:268961 Isolated focal cortical dysplasia type I False False False -Orphanet:268973 Isolated focal cortical dysplasia type Ia False False False -Orphanet:268980 Isolated focal cortical dysplasia type Ib False False False -Orphanet:268987 Isolated focal cortical dysplasia type Ic False False False -Orphanet:268994 Isolated focal cortical dysplasia type II False False False -Orphanet:269 Facioscapulohumeral dystrophy False False False -Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome False False False -Orphanet:269001 Isolated focal cortical dysplasia type IIa False False False -Orphanet:269008 Isolated focal cortical dysplasia type IIb False False False -Orphanet:269190 Encephaloclastic disorder False False False -Orphanet:269194 Central nervous system cystic malformation False False False -Orphanet:269197 Glioependymal/ependymal cyst False False False -Orphanet:269203 Isolated cerebellar vermis agenesis False False False -Orphanet:269206 Isolated total cerebellar vermis agenesis False False False -Orphanet:269209 Isolated partial cerebellar vermis agenesis False False False -Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus False False False -Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus False False False -Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia False False False -Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia False False False -Orphanet:269224 Global cerebellar malformation False False False -Orphanet:269229 Pontine tegmental cap dysplasia False False False -Orphanet:2695 Bifid nose False False False -Orphanet:269505 Congenital communicating hydrocephalus False False False -Orphanet:269510 Congenital non-communicating hydrocephalus False False False -Orphanet:269523 Syndrome with a cerebellar malformation as a major feature False False False -Orphanet:269528 Syndrome with microcephaly as a major feature False False False -Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature False False False -Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature False False False -Orphanet:269553 Genetic cerebral malformation False False False -Orphanet:269557 Genetic posterior fossa malformation False False False Orphanet:269560 Genetic cerebellar malformation False False False Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as a major feature False False False -Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature False False False -Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome False False False -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome False False False -Orphanet:2699 Median nodule of the upper lip False False False -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia False False False -Orphanet:270 Oculopharyngeal muscular dystrophy False False False -Orphanet:2700 Noma False False False -Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair False False False -Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome False False False -Orphanet:2704 Ochoa syndrome False False False -Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type False False False -Orphanet:2709 Oculodental syndrome, Rutherfurd type False False False -Orphanet:2710 Oculodentodigital dysplasia False False False -Orphanet:2712 Oculofaciocardiodental syndrome False False False -Orphanet:2713 Oculoosteocutaneous syndrome False False False -Orphanet:2714 Oculo-palato-cerebral syndrome False False False -Orphanet:2715 Severe oculo-renal-cerebellar syndrome False False False -Orphanet:2717 Oculotrichoanal syndrome False False False -Orphanet:2718 Oculotrichodysplasia False False False -Orphanet:271832 Genetic soft tissue tumor False False False -Orphanet:271835 Genetic digestive tract tumor False False False -Orphanet:271841 Genetic cardiac tumor False False False -Orphanet:271844 Genetic urogenital tumor False False False -Orphanet:271847 Genetic neuroendocrine tumor False False False -Orphanet:271853 Genetic cardiac anomaly False False False -Orphanet:271870 Rare genetic systemic or rheumatologic disease False False False -Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type False False False -Orphanet:272 Congenital muscular dystrophy, Fukuyama type False False False -Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type False False False -Orphanet:2721 Odonto-onycho-dermal dysplasia False False False -Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome False False False -Orphanet:2723 Odontotrichomelic syndrome False False False -Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome False False False -Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type False False False Orphanet:2729 Okamoto syndrome False False False -Orphanet:273 Steinert myotonic dystrophy False False False -Orphanet:2730 Postaxial tetramelic oligodactyly False False False -Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome False False False -Orphanet:2733 Omodysplasia False False False -Orphanet:2736 Lethal omphalocele-cleft palate syndrome False False False -Orphanet:2737 Onchocerciasis False False False -Orphanet:274 Bernard-Soulier syndrome False False False -Orphanet:2741 Ophthalmomandibulomelic dysplasia False False False -Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome False False False -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis False False False -Orphanet:2745 Opitz GBBB syndrome False False False -Orphanet:2746 Opsismodysplasia False False False -Orphanet:2749 Oromandibular-limb hypogenesis syndrome False False False -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency False False False -Orphanet:2750 Orofaciodigital syndrome type 1 False False False -Orphanet:2751 Orofaciodigital syndrome type 2 False False False -Orphanet:2752 Orofaciodigital syndrome type 3 False False False -Orphanet:2753 Orofaciodigital syndrome type 4 False False False -Orphanet:2754 Orofaciodigital syndrome type 6 False False False -Orphanet:2755 Orofaciodigital syndrome type 8 False False False -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections False False False -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease False False False -Orphanet:275543 L1 syndrome False False False -Orphanet:275555 Preeclampsia False False False -Orphanet:2756 Orofaciodigital syndrome type 10 False False False -Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia False False False -Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect False False False -Orphanet:275742 Genetic infertility False False False -Orphanet:275761 Lysosomal acid lipase deficiency False False False -Orphanet:275766 Idiopathic pulmonary arterial hypertension False False False -Orphanet:275777 Heritable pulmonary arterial hypertension False False False -Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia False False False -Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism False False False -Orphanet:275853 Syndrome with pulmonary hypertension as a major feature False False False -Orphanet:275864 Behavioral variant of frontotemporal dementia False False False -Orphanet:275872 Frontotemporal dementia with motor neuron disease False False False -Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome False False False -Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization False False False -Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization False False False -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency False False False -Orphanet:2760 OSLAM syndrome False False False -Orphanet:276058 Genetic neurodegenerative disease with dementia False False False -Orphanet:276061 Genetic frontotemporal degeneration with dementia False False False -Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation False False False -Orphanet:276142 Rare tumor of salivary glands False False False -Orphanet:276145 Malignant epithelial tumor of salivary glands False False False -Orphanet:276148 Benign epithelial tumor of salivary glands False False False -Orphanet:276152 Multiple endocrine neoplasia type 4 False False False -Orphanet:276161 Multiple endocrine neoplasia False False False -Orphanet:276174 Idiopathic recurrent stupor False False False -Orphanet:276183 Spinocerebellar ataxia type 32 False False False -Orphanet:276193 Spinocerebellar ataxia type 35 False False False -Orphanet:276198 Spinocerebellar ataxia type 36 False False False -Orphanet:2762 Progressive osseous heteroplasia False False False -Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing False False False -Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing False False False -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder False False False -Orphanet:276238 Machado-Joseph disease type 1 False False False -Orphanet:276241 Machado-Joseph disease type 2 False False False -Orphanet:276244 Machado-Joseph disease type 3 False False False -Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome False False False -Orphanet:2763 Osteocraniostenosis False False False -Orphanet:276399 Familial multinodular goiter False False False -Orphanet:2764 Osteochondritis dissecans False False False -Orphanet:276405 Hyperbiliverdinemia False False False -Orphanet:276413 10q22.3q23.3 microdeletion syndrome False False False -Orphanet:276422 10q22.3q23.3 microduplication syndrome False False False -Orphanet:276429 Hypnic headache False False False -Orphanet:276432 Ogden syndrome False False False -Orphanet:276435 Lower motor neuron syndrome with late-adult onset False False False -Orphanet:276525 Familial hyperinsulinism False False False -Orphanet:276556 Hyperinsulinism due to UCP2 deficiency False False False -Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency False False False -Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency False False False -Orphanet:276585 Diazoxide-resistant hyperinsulinism False False False -Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency False False False -Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency False False False -Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome False False False -Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma False False False -Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers False False False -Orphanet:2767 Carpotarsal osteochondromatosis False False False -Orphanet:2768 Blount disease False False False -Orphanet:2769 Familial osteodysplasia, Anderson type False False False -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency False False False -Orphanet:2770 Nasu-Hakola disease False False False -Orphanet:2771 Bruck syndrome False False False -Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome False False False -Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome False False False -Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy False False False -Orphanet:2776 Autosomal recessive distal osteolysis syndrome False False False -Orphanet:2777 Osteomesopyknosis False False False -Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome False False False -Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome False False False -Orphanet:2783 Autosomal dominant osteopetrosis type 1 False False False -Orphanet:2785 Osteopetrosis with renal tubular acidosis False False False -Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome False False False -Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome False False False -Orphanet:2788 Osteoporosis-pseudoglioma syndrome False False False -Orphanet:2789 Lateral meningocele syndrome False False False -Orphanet:2790 Endosteal hyperostosis, Worth type False False False -Orphanet:2791 Otodental syndrome False False False -Orphanet:2792 Otofaciocervical syndrome False False False -Orphanet:2793 Otoonychoperoneal syndrome False False False -Orphanet:2795 Fowler urethral sphincter dysfunction syndrome False False False -Orphanet:2796 Pachydermoperiostosis False False False -Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome False False False -Orphanet:279882 Spasmus nutans False False False -Orphanet:279888 Acute endophthalmitis False False False -Orphanet:279891 Chronic endophthalmitis False False False -Orphanet:279894 Toxic maculopathy due to antimalarial drugs False False False -Orphanet:279897 Primary oculocerebral lymphoma False False False -Orphanet:279904 Primary intraocular lymphoma False False False -Orphanet:279914 Intermediate uveitis False False False -Orphanet:279919 Infectious posterior uveitis False False False -Orphanet:279922 Infectious anterior uveitis False False False -Orphanet:279925 Infectious panuveitis False False False -Orphanet:279928 Paraneoplastic uveitis False False False -Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency False False False -Orphanet:279943 Hereditary neutrophilia False False False -Orphanet:279947 Postorgasmic illness syndrome False False False -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia False False False -Orphanet:280 Wolf-Hirschhorn syndrome False False False -Orphanet:2800 Extramammary Paget disease False False False -Orphanet:280062 Calciphylaxis False False False -Orphanet:280065 Calciphylaxis cutis False False False -Orphanet:280068 Visceral calciphylaxis False False False -Orphanet:280071 ALG11-CDG False False False -Orphanet:2801 Juvenile Paget disease False False False -Orphanet:280133 Complement component 3 deficiency False False False -Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency False False False -Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect False False False -Orphanet:280195 Septopreoptic holoprosencephaly False False False -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia False False False -Orphanet:280200 Microform holoprosencephaly False False False -Orphanet:280205 Laryngotracheoesophageal cleft type 0 False False False -Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form False False False -Orphanet:280219 Pelizaeus-Merzbacher disease, classic form False False False -Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form False False False -Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers False False False -Orphanet:280234 Null syndrome False False False -Orphanet:280270 Pelizaeus-Merzbacher-like disease False False False -Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation False False False -Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation False False False -Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation False False False -Orphanet:280302 Autoimmune pancreatitis type 1 False False False -Orphanet:280315 Autoimmune pancreatitis type 2 False False False -Orphanet:280325 Distal deletion 12p False False False -Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 False False False -Orphanet:280342 Rare systemic or rheumatological disease of childhood False False False -Orphanet:280356 PLIN1-related familial partial lipodystrophy False False False -Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy False False False -Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy False False False -Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome False False False -Orphanet:280397 Familial Alzheimer-like prion disease False False False -Orphanet:2804 W syndrome False False False -Orphanet:280400 Inherited human prion disease False False False -Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism False False False -Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness False False False -Orphanet:2805 Partial pancreatic agenesis False False False -Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy False False False -Orphanet:280558 Warsaw breakage syndrome False False False -Orphanet:280576 Nestor-Guillermo progeria syndrome False False False -Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type False False False -Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin False False False -Orphanet:2806 Subacute sclerosing leukoencephalitis False False False -Orphanet:280615 Hemoglobinopathy Toms River False False False -Orphanet:280620 Progressive myoclonic epilepsy type 6 False False False -Orphanet:280628 Familial progressive hyper- and hypopigmentation False False False -Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome False False False -Orphanet:280640 Occipital pachygyria and polymicrogyria False False False -Orphanet:280654 Autosomal recessive nail dysplasia False False False -Orphanet:280671 Megaconial congenital muscular dystrophy False False False -Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome False False False -Orphanet:2807 Papilloma of choroid plexus False False False -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia False False False -Orphanet:280774 Generalized essential telangiectasia False False False -Orphanet:280779 Cutaneous collagenous vasculopathy False False False -Orphanet:280785 Bullous diffuse cutaneous mastocytosis False False False -Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis False False False -Orphanet:2808 Laryngeal abductor paralysis False False False -Orphanet:280802 Intralobar congenital pulmonary sequestration False False False -Orphanet:280811 Extralobar congenital pulmonary sequestration False False False -Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation False False False -Orphanet:280827 Congenital pulmonary airway malformation type 0 False False False -Orphanet:280832 Congenital pulmonary airway malformation type 1 False False False -Orphanet:280840 Congenital pulmonary airway malformation type 2 False False False -Orphanet:280847 Congenital pulmonary airway malformation type 3 False False False -Orphanet:280854 Congenital pulmonary airway malformation type 4 False False False -Orphanet:280886 Anterior uveitis False False False -Orphanet:280892 Posterior uveitis False False False -Orphanet:280898 Panuveitis False False False -Orphanet:2809 Familial recurrent peripheral facial palsy False False False -Orphanet:280917 Idiopathic posterior uveitis False False False -Orphanet:280921 Idiopathic panuveitis False False False -Orphanet:280926 Systemic diseases with anterior uveitis False False False -Orphanet:280930 Systemic diseases with posterior uveitis False False False -Orphanet:280933 Systemic diseases with panuveitis False False False -Orphanet:281 Monosomy 5p False False False -Orphanet:281082 Inherited non-syndromic ichthyosis False False False -Orphanet:281085 Inherited ichthyosis syndromic form False False False -Orphanet:281090 Syndromic recessive X-linked ichthyosis False False False -Orphanet:281097 Autosomal recessive congenital ichthyosis False False False -Orphanet:281103 Keratinopathic ichthyosis False False False -Orphanet:281122 Self-improving collodion baby False False False -Orphanet:281127 Acral self-healing collodion baby False False False -Orphanet:281139 Annular epidermolytic ichthyosis False False False -Orphanet:281190 Congenital reticular ichthyosiform erythroderma False False False -Orphanet:2812 Parana hard skin syndrome False False False -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome False False False -Orphanet:281210 X-linked ichthyosis syndrome False False False -Orphanet:281217 Autosomal ichthyosis syndrome False False False -Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities False False False -Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs False False False -Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course False False False -Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs False False False -Orphanet:2815 Spastic paraparesis-deafness syndrome False False False -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome False False False -Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome False False False -Orphanet:282 Frontotemporal dementia False False False -Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome False False False -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome False False False -Orphanet:282124 Partial deletion of chromosome 12 False False False -Orphanet:282166 Inherited Creutzfeldt-Jakob disease False False False -Orphanet:282196 Autoimmune polyendocrinopathy False False False -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 False False False -Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome False False False -Orphanet:2825 PARC syndrome False False False -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome False False False -Orphanet:2828 Young-onset Parkinson disease False False False -Orphanet:283 Demodicidosis False False False -Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type False False False -Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome False False False -Orphanet:2833 Stiff skin syndrome False False False -Orphanet:2834 Wrinkly skin syndrome False False False -Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome False False False -Orphanet:2836 PEHO syndrome False False False -Orphanet:28378 Tyrosinemia type 2 False False False -Orphanet:2838 Renal caliceal diverticuli-deafness syndrome False False False -Orphanet:2839 Pelvis-shoulder dysplasia False False False -Orphanet:284 Alveolar echinococcosis False False False -Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome False False False -Orphanet:2841 Familial benign chronic pemphigus False False False -Orphanet:284139 Larsen-like syndrome, B3GAT3 type False False False -Orphanet:284149 Craniosynostosis-dental anomalies False False False -Orphanet:284160 8q21.11 microdeletion syndrome False False False -Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion False False False -Orphanet:284180 Xp22.13p22.2 duplication syndrome False False False -Orphanet:2842 Penoscrotal transposition False False False -Orphanet:284227 TEMPI syndrome False False False -Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O False False False -Orphanet:284247 Familial retinal arterial macroaneurysm False False False -Orphanet:284264 IgG4-related disease False False False -Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome False False False -Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency False False False -Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia False False False -Orphanet:2843 Pentosuria False False False -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia False False False -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia False False False -Orphanet:284339 Pontocerebellar hypoplasia type 7 False False False -Orphanet:284343 DICER1 tumor-predisposition syndrome False False False -Orphanet:284362 Fetal lung interstitial tumor False False False -Orphanet:284388 Reversible cerebral vasoconstriction syndrome False False False -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung False False False -Orphanet:284400 Small cell carcinoma of the bladder False False False -Orphanet:284411 Glycerol kinase deficiency, juvenile form False False False -Orphanet:284414 Glycerol kinase deficiency, adult form False False False -Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form False False False -Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency False False False -Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency False False False -Orphanet:284448 CLIPPERS False False False -Orphanet:284454 Acute zonal occult outer retinopathy False False False -Orphanet:284460 Acute annular outer retinopathy False False False -Orphanet:2846 Congenital pericardium anomaly False False False -Orphanet:2847 Pericardial and diaphragmatic defect False False False -Orphanet:284786 Qualitative or quantitative defects of troponin False False False -Orphanet:284790 Qualitative or quantitative defects of tropomyosin False False False -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome False False False -Orphanet:284804 Ocular albinism False False False -Orphanet:284811 Syndromic oculocutaneous albinism False False False -Orphanet:284814 Disorder of phenylalanine metabolism False False False -Orphanet:284818 Disorder of tyrosine metabolism False False False -Orphanet:2849 Perlman syndrome False False False -Orphanet:284963 Marfan syndrome type 1 False False False -Orphanet:284973 Marfan syndrome type 2 False False False -Orphanet:284979 Neonatal Marfan syndrome False False False -Orphanet:284984 Aneurysm-osteoarthritis syndrome False False False -Orphanet:284993 Marfan syndrome and Marfan-related disorders False False False -Orphanet:285 Hypermobile Ehlers-Danlos syndrome False False False -Orphanet:2850 Alopecia-intellectual disability syndrome False False False -Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection False False False -Orphanet:2854 Fuhrmann syndrome False False False -Orphanet:2855 Perrault syndrome False False False -Orphanet:2856 Persistent Müllerian duct syndrome False False False -Orphanet:285657 Disorder of folate metabolism and transport False False False -Orphanet:286 Vascular Ehlers-Danlos syndrome False False False -Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome False False False -Orphanet:2865 Short stature-webbed neck-heart disease syndrome False False False -Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome False False False -Orphanet:2867 Short stature, Brussels type False False False -Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome False False False -Orphanet:2869 Peutz-Jeghers syndrome False False False -Orphanet:287 Classical Ehlers-Danlos syndrome False False False -Orphanet:2871 Pfeiffer-Palm-Teller syndrome False False False -Orphanet:2872 Cardiocranial syndrome, Pfeiffer type False False False -Orphanet:2874 Phakomatosis pigmentokeratotica False False False -Orphanet:2875 Phakomatosis pigmentovascularis False False False -Orphanet:2876 PHAVER syndrome False False False -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome False False False -Orphanet:2879 Phocomelia, Schinzel type False False False -Orphanet:288 Hereditary elliptocytosis False False False -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency False False False -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome False False False -Orphanet:2882 Sitosterolemia False False False -Orphanet:2884 Piebaldism False False False -Orphanet:2885 Piebald trait-neurologic defects syndrome False False False -Orphanet:2886 TARP syndrome False False False -Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome False False False -Orphanet:2889 Pili torti False False False -Orphanet:289 Ellis Van Creveld syndrome False False False -Orphanet:2890 Pili torti-onychodysplasia syndrome False False False -Orphanet:289098 Disorders of vitamin D metabolism False False False -Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome False False False -Orphanet:289103 Hypocalcemic rickets False False False -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets False False False -Orphanet:289176 Autosomal recessive hypophosphatemic rickets False False False -Orphanet:2892 Pilodental dysplasia-refractive errors syndrome False False False -Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation False False False -Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency False False False -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency False False False -Orphanet:289326 Tropical spastic paraparesis False False False -Orphanet:289347 Infective dermatitis associated with HTLV-1 False False False -Orphanet:289356 Primary non-gestational choriocarcinoma of ovary False False False -Orphanet:289362 Non-central nervous system-localized embryonal carcinoma False False False -Orphanet:289365 Familial vesicoureteral reflux False False False -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy False False False -Orphanet:289380 Myosclerosis False False False -Orphanet:289385 Malignancy diagnosed during pregnancy False False False -Orphanet:289390 Primary Sjögren syndrome False False False -Orphanet:289465 Isolated congenital adermatoglyphia False False False -Orphanet:289478 PASH syndrome False False False -Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome False False False -Orphanet:289494 4H leukodystrophy False False False -Orphanet:289499 Congenital cataract microcornea with corneal opacity False False False -Orphanet:289504 Combined malonic and methylmalonic acidemia False False False -Orphanet:289513 12q15q21.1 microdeletion syndrome False False False -Orphanet:289522 Microtriplication 11q24.1 False False False -Orphanet:289539 BAP1-related tumor predisposition syndrome False False False -Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency False False False -Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome False False False -Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration False False False -Orphanet:289573 Multiple mitochondrial dysfunctions syndrome False False False -Orphanet:289586 Exfoliative ichthyosis False False False -Orphanet:289596 Juvenile nasopharyngeal angiofibroma False False False -Orphanet:2896 Pitt-Hopkins syndrome False False False -Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome False False False -Orphanet:289635 Rare virus associated tumor False False False -Orphanet:289638 Epstein-Barr Virus-related tumor False False False -Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder False False False -Orphanet:289651 Epstein-Barr Virus-associated carcinoma False False False -Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor False False False -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly False False False -Orphanet:289666 Plasmablastic lymphoma False False False -Orphanet:289682 Lymphoepithelial-like carcinoma False False False -Orphanet:289685 Myopericytoma False False False -Orphanet:2897 Pityriasis rubra pilaris False False False -Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome False False False -Orphanet:289829 Disorder of tryptophan metabolism False False False -Orphanet:289832 Disorder of lysine and hydroxylysine metabolism False False False -Orphanet:289841 Disorder of glutamine metabolism False False False -Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria False False False -Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria False False False -Orphanet:289857 Neonatal glycine encephalopathy False False False -Orphanet:289860 Infantile glycine encephalopathy False False False -Orphanet:289863 Atypical glycine encephalopathy False False False -Orphanet:289866 Disorder of proline metabolism False False False -Orphanet:289869 Disorder of ornithine metabolism False False False -Orphanet:289877 Transient hyperammonemia of the newborn False False False -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency False False False -Orphanet:289899 Organic aciduria False False False -Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome False False False -Orphanet:289902 3-methylglutaconic aciduria False False False -Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 False False False -Orphanet:29 Mevalonic aciduria False False False -Orphanet:290 Congenital rubella syndrome False False False -Orphanet:2900 Leri pleonosteosis False False False -Orphanet:2901 Neuralgic amyotrophy False False False -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia False False False -Orphanet:2903 Familial spontaneous pneumothorax False False False -Orphanet:2905 POEMS syndrome False False False -Orphanet:2907 Hereditary acrokeratotic poikiloderma False False False -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma False False False -Orphanet:29073 Multiple myeloma False False False -Orphanet:2908 Kindler epidermolysis bullosa False False False -Orphanet:290836 Systemic disease with skin involvement False False False -Orphanet:290839 Autoinflammatory syndrome with immune deficiency False False False -Orphanet:290842 Autoinflammatory syndrome with skin involvement False False False -Orphanet:290849 Rare head and neck tumor False False False -Orphanet:2909 Rothmund-Thomson syndrome False False False -Orphanet:291 Congenital varicella syndrome False False False -Orphanet:2911 Poland syndrome False False False -Orphanet:2912 Poliomyelitis False False False -Orphanet:2913 Non-syndromic polydactyly False False False -Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome False False False -Orphanet:2917 Polydactyly-myopia syndrome False False False -Orphanet:2919 Orofaciodigital syndrome type 5 False False False -Orphanet:292 Congenital enterovirus infection False False False -Orphanet:2920 Oliver syndrome False False False -Orphanet:29207 Reactive arthritis False False False -Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome False False False -Orphanet:2924 Isolated polycystic liver disease False False False -Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy False False False -Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome False False False -Orphanet:2929 Juvenile polyposis syndrome False False False -Orphanet:293 Congenital herpes simplex virus infection False False False -Orphanet:2930 Cronkhite-Canada syndrome False False False -Orphanet:293144 Familial clubfoot due to 5q31 microdeletion False False False -Orphanet:293150 Familial clubfoot due to PITX1 point mutation False False False -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome False False False -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis False False False -Orphanet:293173 Acute generalized exanthematous pustulosis False False False -Orphanet:293181 Malignant migrating focal seizures of infancy False False False -Orphanet:293199 Pleomorphic rhabdomyosarcoma False False False -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy False False False -Orphanet:293202 Epithelioid sarcoma False False False -Orphanet:293208 Celiac artery compression syndrome False False False -Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria False False False -Orphanet:293355 Methylmalonic acidemia without homocystinuria False False False -Orphanet:293375 Grayson-Wilbrandt corneal dystrophy False False False -Orphanet:293381 Epithelial recurrent erosion dystrophy False False False -Orphanet:2934 Polysyndactyly-cardiac malformation syndrome False False False -Orphanet:293462 Pre-Descemet corneal dystrophy False False False -Orphanet:2935 Crossed polysyndactyly False False False -Orphanet:293603 Congenital hereditary endothelial dystrophy type II False False False -Orphanet:293621 X-linked endothelial corneal dystrophy False False False -Orphanet:293633 PYCR1-related De Barsy syndrome False False False -Orphanet:293642 Blepharophimosis-intellectual disability syndrome False False False -Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type False False False -Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type False False False -Orphanet:293807 Ketamine-induced biliary dilatation False False False -Orphanet:293812 Fixed drug eruption False False False -Orphanet:293815 Toxic dermatosis False False False -Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome False False False -Orphanet:293825 Congenital dyserythropoietic anemia type IV False False False -Orphanet:293830 Constitutional dyserythropoietic anemia False False False -Orphanet:293843 3MC syndrome False False False -Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome False False False -Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form False False False -Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form False False False -Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form False False False -Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome False False False -Orphanet:293936 EDICT syndrome False False False -Orphanet:293939 Distal Xq28 microduplication syndrome False False False -Orphanet:293948 1p21.3 microdeletion syndrome False False False -Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency False False False -Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome False False False -Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy False False False -Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome False False False -Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome False False False -Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome False False False -Orphanet:294 Fetal cytomegalovirus syndrome False False False -Orphanet:2940 Porencephaly False False False -Orphanet:294016 Microcephaly-capillary malformation syndrome False False False -Orphanet:294023 Neonatal inflammatory skin and bowel disease False False False -Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication False False False -Orphanet:294057 Rare nevus False False False -Orphanet:294060 Multiple pterygium syndrome False False False -Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome False False False -Orphanet:2942 Postpoliomyelitis syndrome False False False -Orphanet:294415 Renal-hepatic-pancreatic dysplasia False False False -Orphanet:294422 Chronic intestinal failure False False False -Orphanet:2946 Brachydactyly-long thumb syndrome False False False -Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome False False False -Orphanet:294925 Amelia False False False -Orphanet:294927 Intercalary limb defects False False False -Orphanet:294944 Congenital deformities of limbs False False False -Orphanet:294947 Congenital deformities of fingers False False False -Orphanet:294949 Joint formation defects False False False -Orphanet:294951 Congenital joint dislocations False False False -Orphanet:294953 Non syndromic limb overgrowth False False False -Orphanet:294955 Syndrome with limb reduction defects False False False -Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs False False False -Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy False False False -Orphanet:294963 Popliteal pterygium syndrome False False False -Orphanet:294965 Lethal congenital contracture syndrome False False False -Orphanet:294967 Amelia of upper limb False False False -Orphanet:294969 Amelia of lower limb False False False -Orphanet:294971 Tetra-amelia False False False -Orphanet:294973 Humeral agenesis/hypoplasia False False False -Orphanet:294975 Congenital absence of upper arm and forearm with hand present False False False -Orphanet:294977 Congenital absence of thigh and lower leg with foot present False False False -Orphanet:294979 Congenital absence of both forearm and hand False False False -Orphanet:294981 Congenital absence of both lower leg and foot False False False -Orphanet:294983 Acheiria False False False -Orphanet:294986 Apodia False False False -Orphanet:294988 Congenital hypoplasia of thumb False False False -Orphanet:295 Fetal parvovirus syndrome False False False -Orphanet:295000 Constriction rings syndrome False False False -Orphanet:295002 Hyperphalangy False False False -Orphanet:295004 Central polydactyly False False False -Orphanet:295012 Syndactyly type 6 False False False -Orphanet:295014 Familial isolated clinodactyly of fingers False False False -Orphanet:295016 Camptodactyly of fingers False False False -Orphanet:295018 Congenital pseudoarthrosis of the tibia False False False -Orphanet:295020 Congenital pseudoarthrosis of the femur False False False -Orphanet:295022 Congenital pseudoarthrosis of the fibula False False False -Orphanet:295024 Congenital pseudoarthrosis of the radius False False False -Orphanet:295026 Congenital pseudoarthrosis of the ulna False False False -Orphanet:295028 Tibio-fibular synostosis False False False -Orphanet:295030 True congenital shoulder dislocation False False False -Orphanet:295032 Isolated congenital radial head dislocation False False False -Orphanet:295034 Congenital knee dislocation False False False -Orphanet:295036 Congenital patella dislocation False False False -Orphanet:295044 Macrodactyly of fingers False False False -Orphanet:295047 Macrodactyly of toes False False False -Orphanet:295049 Upper limb hypertrophy False False False -Orphanet:295051 Lower limb hypertrophy False False False -Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome False False False -Orphanet:295187 Zygodactyly type 1 False False False -Orphanet:295189 Zygodactyly type 2 False False False -Orphanet:295191 Zygodactyly type 3 False False False -Orphanet:295193 Zygodactyly type 4 False False False -Orphanet:295195 Synpolydactyly type 1 False False False -Orphanet:295197 Synpolydactyly type 2 False False False -Orphanet:295199 Synpolydactyly type 3 False False False -Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type False False False -Orphanet:295201 Congenital vertical talus, unilateral False False False -Orphanet:295203 Congenital vertical talus, bilateral False False False -Orphanet:295213 Humero-ulnar synostosis, unilateral False False False -Orphanet:295215 Humero-ulnar synostosis, bilateral False False False -Orphanet:295217 Radio-ulnar synostosis, unilateral False False False -Orphanet:295219 Radio-ulnar synostosis, bilateral False False False -Orphanet:295225 Congenital elbow dislocation, unilateral False False False -Orphanet:295227 Congenital elbow dislocation, bilateral False False False -Orphanet:295229 Congenital genu recurvatum False False False -Orphanet:295232 Congenital genu flexum False False False -Orphanet:295239 Macrodactyly of fingers, unilateral False False False -Orphanet:295241 Macrodactyly of fingers, bilateral False False False -Orphanet:295243 Macrodactyly of toes, unilateral False False False -Orphanet:295245 Macrodactyly of toes, bilateral False False False -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome False False False -Orphanet:2956 Acrodysplasia scoliosis False False False -Orphanet:2957 Guttmacher syndrome False False False -Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome False False False -Orphanet:2959 Progeria-short stature-pigmented nevi syndrome False False False -Orphanet:296 Ollier disease False False False -Orphanet:2962 De Barsy syndrome False False False -Orphanet:2963 Progeroid syndrome, Petty type False False False -Orphanet:2964 Autosomal dominant prognathism False False False -Orphanet:2965 Prolactinoma False False False -Orphanet:2966 Properdin deficiency False False False -Orphanet:2967 Transcobalamin I deficiency False False False -Orphanet:2968 Leukocyte adhesion deficiency False False False -Orphanet:2969 Proteus-like syndrome False False False -Orphanet:297 Tick-borne encephalitis False False False -Orphanet:2970 Prune belly syndrome False False False -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency False False False -Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome False False False -Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome False False False -Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome False False False -Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type False False False -Orphanet:2978 Chronic intestinal pseudoobstruction False False False -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy False False False -Orphanet:2980 Acrootoocular syndrome False False False -Orphanet:2982 46,XX difference of sex development False False False -Orphanet:29822 Spontaneous periodic hypothermia False False False -Orphanet:2983 Difference of sex development-intellectual disability syndrome False False False -Orphanet:2985 Pseudoprogeria syndrome False False False -Orphanet:298644 Disorder of thiamine metabolism and transport False False False -Orphanet:2987 Antecubital pterygium syndrome False False False -Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome False False False -Orphanet:2989 Familial pterygium of the conjunctiva False False False -Orphanet:2990 Autosomal recessive multiple pterygium syndrome False False False -Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome False False False -Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome False False False -Orphanet:2997 Ptosis-vocal cord paralysis syndrome False False False -Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome False False False -Orphanet:30 Hereditary orotic aciduria False False False -Orphanet:300 Bifunctional enzyme deficiency False False False -Orphanet:3000 Familial peripheral male-limited precocious puberty False False False -Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency False False False -Orphanet:3002 Immune thrombocytopenia False False False -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency False False False -Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis False False False -Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts False False False -Orphanet:3003 Pyknoachondrogenesis False False False -Orphanet:300305 11p15.4 microduplication syndrome False False False -Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome False False False -Orphanet:300319 Charcot-Marie-Tooth disease type 2P False False False -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis False False False -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome False False False -Orphanet:300345 Autosomal systemic lupus erythematosus False False False -Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation False False False -Orphanet:300373 X-linked acrogigantism False False False -Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome False False False -Orphanet:300385 Pituitary carcinoma False False False -Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome False False False -Orphanet:300493 Sagliker syndrome False False False -Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 False False False -Orphanet:3005 Pyle disease False False False -Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome False False False -Orphanet:300504 Onychocytic matricoma False False False -Orphanet:300512 Onychomatricoma False False False -Orphanet:300515 Rare nail tumor False False False -Orphanet:300525 Pseudohypoaldosteronism type 2D False False False -Orphanet:300530 Pseudohypoaldosteronism type 2E False False False -Orphanet:300536 DDOST-CDG False False False -Orphanet:300547 Autosomal recessive infantile hypercalcemia False False False -Orphanet:300552 Follicular cholangitis and pancreatitis False False False -Orphanet:300557 Carcinoma of the ampulla of Vater False False False -Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome False False False -Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation False False False -Orphanet:300573 Polymicrogyria due to TUBB2B mutation False False False -Orphanet:300576 Oligodontia-cancer predisposition syndrome False False False -Orphanet:300579 Staphylococcal toxemia False False False -Orphanet:3006 Pyridoxine-dependent epilepsy False False False -Orphanet:300605 Juvenile amyotrophic lateral sclerosis False False False -Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation False False False -Orphanet:300755 Laminopathy with striated muscle involvement False False False -Orphanet:300758 Laminopathy with peripheral neuropathy False False False -Orphanet:300763 Laminopathy with lipodystrophy False False False -Orphanet:300766 Laminopathy with premature aging False False False -Orphanet:3008 Pyruvate carboxylase deficiency False False False -Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system False False False -Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma False False False -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma False False False -Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma False False False -Orphanet:300878 Hairy cell leukemia variant False False False -Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation False False False -Orphanet:300895 ALK-positive anaplastic large cell lymphoma False False False -Orphanet:300903 ALK-negative anaplastic large cell lymphoma False False False -Orphanet:301 Ependymal tumor False False False -Orphanet:3010 Qazi-Markouizos syndrome False False False -Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome False False False -Orphanet:3015 Radio-renal syndrome False False False -Orphanet:3016 Absent radius-anogenital anomalies syndrome False False False -Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome False False False -Orphanet:3019 Ramon syndrome False False False -Orphanet:302 Epidermodysplasia verruciformis False False False -Orphanet:3020 Ramsay Hunt syndrome False False False -Orphanet:3021 RAPADILINO syndrome False False False -Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome False False False -Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome False False False -Orphanet:3027 Caudal regression syndrome False False False -Orphanet:303 Dystrophic epidermolysis bullosa False False False -Orphanet:3032 NPHP3-related Meckel-like syndrome False False False -Orphanet:3033 Renal tubular dysgenesis False False False -Orphanet:3034 Delayed membranous cranial ossification False False False -Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome False False False -Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome False False False -Orphanet:30391 Isolated biliary atresia False False False -Orphanet:304 Epidermolysis bullosa simplex False False False -Orphanet:304055 Pituitary tumor False False False -Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome False False False -Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome False False False -Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome False False False -Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type False False False -Orphanet:305 Junctional epidermolysis bullosa False False False -Orphanet:3051 Nicolaides-Baraitser syndrome False False False -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome False False False -Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome False False False -Orphanet:3057 Monoamine oxidase A deficiency False False False -Orphanet:306 Benign familial infantile epilepsy False False False -Orphanet:3063 X-linked intellectual disability, Snyder type False False False -Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies False False False -Orphanet:306498 PTEN hamartoma tumor syndrome False False False -Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome False False False -Orphanet:306511 Autosomal recessive spastic paraplegia type 48 False False False -Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis False False False -Orphanet:306527 Isolated hereditary congenital facial paralysis False False False -Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome False False False -Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome False False False -Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome False False False -Orphanet:306550 FADD-related immunodeficiency False False False -Orphanet:306553 Myospherulosis False False False -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome False False False -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy False False False -Orphanet:306617 X-linked complicated spastic paraplegia type 1 False False False -Orphanet:306640 Rare intoxication due to medical products False False False -Orphanet:306644 Complication after organ transplantation False False False -Orphanet:306648 Non-infectious anterior uveitis False False False -Orphanet:306658 Familial normophosphatemic tumoral calcinosis False False False -Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome False False False -Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease False False False -Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome False False False -Orphanet:306674 Kufor-Rakeb syndrome False False False -Orphanet:306679 Rare parkinsonian syndrome due to intoxication False False False -Orphanet:306682 Manganese poisoning False False False -Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning False False False -Orphanet:306692 Cyanide-induced parkinsonism-dystonia False False False -Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease False False False -Orphanet:306708 Frontotemporal neurodegeneration with movement disorder False False False -Orphanet:306712 Rare tremor disorder False False False -Orphanet:306715 Rare choreic movement disorder False False False -Orphanet:306719 Neurodegenerative disease with chorea False False False -Orphanet:306727 Postinfectious autoimmune disease with chorea False False False -Orphanet:306731 Sydenham chorea False False False -Orphanet:306734 Primary dystonia, DYT21 type False False False -Orphanet:306741 Hemidystonia-hemiatrophy syndrome False False False -Orphanet:306747 Rare myoclonus False False False -Orphanet:306750 Primary myoclonus False False False -Orphanet:306753 Rare disease with myoclonus as a major feature False False False -Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature False False False -Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature False False False -Orphanet:306765 Motor stereotypies False False False -Orphanet:306768 Rare paroxysmal movement disorder False False False -Orphanet:306773 Hyperekplexia False False False -Orphanet:306776 Sporadic hyperekplexia False False False -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome False False False -Orphanet:307 Juvenile myoclonic epilepsy False False False -Orphanet:307052 Rare genetic parkinsonian disorder False False False -Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease False False False -Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease False False False -Orphanet:307061 Rare genetic tremor disorder False False False -Orphanet:307064 Rare genetic myoclonus False False False -Orphanet:307067 Rare genetic disease with myoclonus as a major feature False False False -Orphanet:3071 Costello syndrome False False False -Orphanet:307141 Diffuse palmoplantar keratoderma False False False -Orphanet:307148 Isolated diffuse palmoplantar keratoderma False False False -Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome False False False -Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome False False False -Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature False False False -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome False False False -Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma False False False -Orphanet:3078 Severe X-linked intellectual disability, Gustavson type False False False -Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature False False False -Orphanet:307837 Focal palmoplantar keratoderma False False False -Orphanet:307846 Isolated focal palmoplantar keratoderma False False False -Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature False False False -Orphanet:3079 Intellectual disability, Buenos-Aires type False False False -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome False False False -Orphanet:307967 Punctate palmoplantar keratoderma False False False -Orphanet:307995 Marginal papular palmoplantar keratoderma False False False -Orphanet:308 Progressive myoclonic epilepsy type 1 False False False -Orphanet:3080 Intellectual disability, Wolff type False False False -Orphanet:308013 Focal acral hyperkeratosis False False False -Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature False False False -Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature False False False -Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature False False False -Orphanet:308166 Erythrokeratoderma variabilis progressiva False False False -Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome False False False -Orphanet:308380 Methylcobalamin deficiency type cblDv1 False False False -Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A False False False -Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B False False False -Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C False False False -Orphanet:308407 Disorder of beta and omega amino acid metabolism False False False -Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency False False False -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency False False False -Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 False False False -Orphanet:308448 Aminoacylase deficiency False False False -Orphanet:308451 Disorder of neutral amino acid transport False False False -Orphanet:308459 Disorder of glycolysis False False False -Orphanet:308463 Disorder of fructose metabolism False False False -Orphanet:308467 Disorder of galactose metabolism False False False -Orphanet:308473 Erythrocyte galactose epimerase deficiency False False False -Orphanet:308487 Generalized galactose epimerase deficiency False False False -Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome False False False -Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency False False False -Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset False False False -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy False False False -Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form False False False -Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form False False False -Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form False False False -Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form False False False -Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form False False False -Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form False False False -Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form False False False -Orphanet:3088 Revesz syndrome False False False -Orphanet:308993 Glycerol kinase deficiency False False False -Orphanet:308998 Disorder of glyoxylate metabolism False False False -Orphanet:309 Familial partial epilepsy False False False -Orphanet:3090 Congenital pulmonary venous return anomaly False False False -Orphanet:309001 Disorder of carbohydrate absorption and transport False False False -Orphanet:309005 Disorder of lipid metabolism False False False -Orphanet:309015 Familial lipoprotein lipase deficiency False False False -Orphanet:309020 Familial apolipoprotein C-II deficiency False False False -Orphanet:309025 Mevalonate kinase deficiency False False False -Orphanet:309028 Disorder of lipid absorption and transport False False False -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency False False False -Orphanet:3091 Congenital systemic veins anomaly False False False -Orphanet:309108 Pancreatic colipase deficiency False False False -Orphanet:309111 Combined pancreatic lipase-colipase deficiency False False False -Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis False False False -Orphanet:309120 Acyl-CoA dehydrogenase deficiency False False False -Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency False False False -Orphanet:309130 Disorder of carnitine cycle and carnitine transport False False False -Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder False False False -Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes False False False -Orphanet:309147 Hyper-beta-alaninemia False False False -Orphanet:309155 Sandhoff disease, infantile form False False False -Orphanet:309162 Sandhoff disease, juvenile form False False False -Orphanet:309169 Sandhoff disease, adult form False False False -Orphanet:309178 Tay-Sachs disease, B variant, infantile form False False False -Orphanet:309185 Tay-Sachs disease, B variant, juvenile form False False False -Orphanet:309192 Tay-Sachs disease, B variant, adult form False False False -Orphanet:3092 Fixed subaortic stenosis False False False -Orphanet:309239 Tay-Sachs disease, B1 variant False False False -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia False False False -Orphanet:309246 GM2 gangliosidosis, AB variant False False False -Orphanet:30925 Hereditary central diabetes insipidus False False False -Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency False False False -Orphanet:309256 Metachromatic leukodystrophy, late infantile form False False False -Orphanet:309263 Metachromatic leukodystrophy, juvenile form False False False -Orphanet:309271 Metachromatic leukodystrophy, adult form False False False -Orphanet:309279 Glycoproteinosis False False False -Orphanet:309282 Alpha-mannosidosis, infantile form False False False -Orphanet:309288 Alpha-mannosidosis, adult form False False False -Orphanet:309294 Sialidosis False False False -Orphanet:309297 Mucopolysaccharidosis type 4A False False False -Orphanet:3093 Congenital aortic valve stenosis False False False -Orphanet:309310 Mucopolysaccharidosis type 4B False False False -Orphanet:309319 Disorder of sialic acid metabolism False False False -Orphanet:309324 Free sialic acid storage disease, infantile form False False False -Orphanet:309331 Intermediate severe Salla disease False False False -Orphanet:309334 Salla disease False False False -Orphanet:309337 Lysosomal glycogen storage disease False False False -Orphanet:309340 Disorder of lysosomal-related organelles False False False -Orphanet:309347 Disorder of protein N-glycosylation False False False -Orphanet:309447 Disorder of protein O-glycosylation False False False -Orphanet:309450 Disorder of O-xylosylglycan synthesis False False False -Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis False False False -Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis False False False -Orphanet:309469 Disorder of O-mannosylglycan synthesis False False False -Orphanet:3095 Atypical Rett syndrome False False False -Orphanet:309505 Disorder of fucoglycosan synthesis False False False -Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation False False False -Orphanet:309526 Disorder of multiple glycosylation False False False -Orphanet:309568 Defect in conserved oligomeric Golgi complex False False False -Orphanet:3096 Reye syndrome False False False -Orphanet:3097 Meacham syndrome False False False -Orphanet:309778 Defect in V-ATPase False False False -Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 False False False -Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 False False False -Orphanet:3098 Rhizomelic syndrome, Urbach type False False False -Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 False False False -Orphanet:309813 Disorder of porphyrin and heme metabolism False False False -Orphanet:309816 Disorder of bilirubin metabolism and excretion False False False -Orphanet:309819 Disorder of pterin metabolism False False False -Orphanet:309824 Disorder of metabolite absorption and transport False False False -Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport False False False -Orphanet:309830 Disorder of catecholamine synthesis False False False -Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport False False False -Orphanet:309836 Disorder of mineral absorption and transport False False False -Orphanet:309839 Disorder of copper metabolism False False False -Orphanet:309842 Disorder of iron metabolism and transport False False False -Orphanet:309845 Disorder of zinc metabolism and transport False False False -Orphanet:309848 Disorder of magnesium transport False False False -Orphanet:309851 Disorder of manganese transport False False False -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome False False False -Orphanet:3099 Rheumatic fever False False False -Orphanet:31 Oxoglutaric aciduria False False False -Orphanet:310 Reflex epilepsy False False False -Orphanet:310050 Acquired immunodeficiency False False False -Orphanet:3101 Richieri Costa-da Silva syndrome False False False -Orphanet:3102 Richieri Costa-Pereira syndrome False False False -Orphanet:3103 Roberts syndrome False False False -Orphanet:3104 Robin sequence-oligodactyly syndrome False False False -Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement False False False -Orphanet:3107 Autosomal dominant Robinow syndrome False False False -Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome False False False -Orphanet:3110 Rombo syndrome False False False -Orphanet:3111 Rotor syndrome False False False -Orphanet:31112 Dermatofibrosarcoma protuberans False False False -Orphanet:3115 Roussy-Lévy syndrome False False False -Orphanet:31150 Tangier disease False False False -Orphanet:31153 Hypoalphalipoproteinemia False False False -Orphanet:31154 Hypobetalipoproteinemia False False False -Orphanet:312 Autosomal dominant epidermolytic ichthyosis False False False -Orphanet:31202 Melioidosis False False False -Orphanet:31204 Nocardiosis False False False -Orphanet:31205 Rat-bite fever False False False -Orphanet:3121 Ruvalcaba syndrome False False False -Orphanet:3124 Saccharopinuria False False False -Orphanet:3129 Sarcosinemia False False False -Orphanet:313 Lamellar ichthyosis False False False -Orphanet:3130 Satoyoshi syndrome False False False -Orphanet:3132 Say-Barber-Miller syndrome False False False -Orphanet:3134 SCARF syndrome False False False -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency False False False -Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome False False False -Orphanet:313781 20p13 microdeletion syndrome False False False -Orphanet:313795 Jawad syndrome False False False -Orphanet:3138 Ulnar-mammary syndrome False False False -Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome False False False -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia False False False -Orphanet:313838 Coats plus syndrome False False False -Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome False False False -Orphanet:313850 Infantile cerebellar-retinal degeneration False False False -Orphanet:313855 FGFR2-related bent bone dysplasia False False False -Orphanet:313884 12p12.1 microdeletion syndrome False False False -Orphanet:313892 Developmental and speech delay due to SOX5 deficiency False False False -Orphanet:313906 Congenital pancreatic cyst False False False -Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma False False False -Orphanet:313936 PENS syndrome False False False -Orphanet:313947 2q23.1 microduplication syndrome False False False -Orphanet:314 Erythroderma desquamativum False False False -Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome False False False -Orphanet:314017 Idiopathic linear interstitial keratitis False False False -Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach False False False -Orphanet:314029 High bone mass osteogenesis imperfecta False False False -Orphanet:314034 7p22.1 microduplication syndrome False False False -Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome False False False -Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome False False False -Orphanet:3143 Autoimmune polyendocrinopathy type 2 False False False -Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity False False False -Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency False False False -Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 False False False -Orphanet:314389 Xq12-q13.3 duplication syndrome False False False -Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome False False False -Orphanet:314399 Autosomal dominant aplasia and myelodysplasia False False False -Orphanet:3144 Schneckenbecken dysplasia False False False -Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome False False False -Orphanet:314419 Ameloblastoma False False False -Orphanet:314422 Ameloblastic carcinoma False False False -Orphanet:314425 Rare odontogenic tumor False False False -Orphanet:314432 Spigelian hernia-cryptorchidism syndrome False False False -Orphanet:314451 Meigs syndrome False False False -Orphanet:314459 Pseudo-Meigs syndrome False False False -Orphanet:314466 Atypical Meigs syndrome False False False -Orphanet:314473 Ovarian fibroma False False False -Orphanet:314478 Ovarian fibrothecoma False False False -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy False False False -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome False False False -Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome False False False -Orphanet:314566 Primary progressive apraxia of speech False False False -Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome False False False -Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome False False False -Orphanet:314585 15q overgrowth syndrome False False False -Orphanet:314588 Distal triplication 15q False False False -Orphanet:314597 Chudley-McCullough syndrome False False False -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy False False False -Orphanet:314613 Growing teratoma syndrome False False False -Orphanet:314621 Duplication of the pituitary gland False False False -Orphanet:314629 CLN11 disease False False False -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis False False False -Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency False False False -Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability False False False -Orphanet:314652 Variant ABeta2M amyloidosis False False False -Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion False False False -Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia False False False -Orphanet:314667 TMEM165-CDG False False False -Orphanet:314679 Cerebrofacioarticular syndrome False False False -Orphanet:314684 Primary bone lymphoma False False False -Orphanet:314689 Combined immunodeficiency due to STK4 deficiency False False False -Orphanet:314697 Acquired porencephaly False False False -Orphanet:314701 Primary systemic amyloidosis False False False -Orphanet:314709 Primary localized amyloidosis False False False -Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency False False False -Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency False False False -Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature False False False -Orphanet:314753 Functioning pituitary adenoma False False False -Orphanet:314759 Mixed functioning pituitary adenoma False False False -Orphanet:314769 Somatomammotropinoma False False False -Orphanet:314777 Familial isolated pituitary adenoma False False False -Orphanet:314786 Silent pituitary adenoma False False False -Orphanet:314790 Null pituitary adenoma False False False -Orphanet:314795 SHOX-related short stature False False False -Orphanet:3148 Malignant peripheral nerve sheath tumor False False False -Orphanet:314802 Short stature due to partial GHR deficiency False False False -Orphanet:314811 Short stature due to GHSR deficiency False False False -Orphanet:314822 Primary renal tubular acidosis False False False -Orphanet:314889 Autosomal dominant proximal renal tubular acidosis False False False -Orphanet:314911 Severe Canavan disease False False False -Orphanet:314918 Mild Canavan disease False False False -Orphanet:314950 Primary hypereosinophilic syndrome False False False -Orphanet:314962 Secondary hypereosinophilic syndrome False False False -Orphanet:314970 Lymphocytic hypereosinophilic syndrome False False False -Orphanet:314978 X-linked non progressive cerebellar ataxia False False False -Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome False False False -Orphanet:315 Erythrokeratoderma ''en cocardes'' False False False -Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome False False False -Orphanet:3152 Sclerosteosis False False False -Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form False False False -Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form False False False -Orphanet:315350 Autoimmune disease with skin involvement False False False -Orphanet:3156 Senior-Loken syndrome False False False -Orphanet:3157 Septo-optic dysplasia spectrum False False False -Orphanet:316 Progressive symmetric erythrokeratodermia False False False -Orphanet:3161 Congenital pulmonary sequestration False False False -Orphanet:3162 Sézary syndrome False False False -Orphanet:316226 Spastic ataxia False False False -Orphanet:316235 Autosomal dominant spastic ataxia False False False -Orphanet:316240 Autosomal recessive spastic ataxia False False False -Orphanet:316244 Partial deletion of the short arm of chromosome 12 False False False -Orphanet:3163 SHORT syndrome False False False -Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type False False False -Orphanet:3165 Eosinophilic fasciitis False False False -Orphanet:3166 Sialuria False False False -Orphanet:3167 Siegler-Brewer-Carey syndrome False False False -Orphanet:3168 Sillence syndrome False False False -Orphanet:3169 Sirenomelia False False False -Orphanet:317 Erythrokeratodermia variabilis False False False -Orphanet:31709 Infantile convulsions and choreoathetosis False False False -Orphanet:3172 Eyebrow duplication-syndactyly syndrome False False False -Orphanet:3173 Infantile spasms-broad thumbs syndrome False False False -Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency False False False -Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency False False False -Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency False False False -Orphanet:317473 Pancytopenia due to IKZF1 mutations False False False -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia False False False -Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome False False False -Orphanet:3176 Spina bifida-hypospadias syndrome False False False -Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome False False False -Orphanet:318 Acute erythroid leukemia False False False -Orphanet:3180 Spondylocamptodactyly syndrome False False False -Orphanet:3181 Sprengel deformity False False False -Orphanet:31824 Colchicine poisoning False False False -Orphanet:31825 Methanol poisoning False False False -Orphanet:31826 Ethylene glycol poisoning False False False -Orphanet:31827 Paraquat poisoning False False False -Orphanet:31828 Digitalis poisoning False False False -Orphanet:31837 Pulmonary venoocclusive disease False False False -Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome False False False -Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome False False False -Orphanet:3189 Congenital pulmonary valvar stenosis False False False -Orphanet:319 Skeletal Ewing sarcoma False False False -Orphanet:3190 Subpulmonary stenosis False False False -Orphanet:3191 Subaortic stenosis-short stature syndrome False False False -Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores False False False -Orphanet:319171 Distal 17p13.1 microdeletion syndrome False False False -Orphanet:319182 Wiedemann-Steiner syndrome False False False -Orphanet:319189 Familial cortical myoclonus False False False -Orphanet:319192 Diencephalic-mesencephalic junction dysplasia False False False -Orphanet:319195 Chondroectodermal dysplasia with night blindness False False False -Orphanet:319199 Autosomal recessive spastic paraplegia type 53 False False False -Orphanet:3192 Supravalvular pulmonary stenosis False False False -Orphanet:319205 Bilateral massive adrenal hemorrhage False False False -Orphanet:319213 Lujo hemorrhagic fever False False False -Orphanet:319218 Ebola hemorrhagic fever False False False -Orphanet:319223 Argentine hemorrhagic fever False False False -Orphanet:319229 Bolivian hemorrhagic fever False False False -Orphanet:319234 Venezuelan hemorrhagic fever False False False -Orphanet:319239 Brazilian hemorrhagic fever False False False -Orphanet:319244 Chapare hemorrhagic fever False False False -Orphanet:319247 Hantavirus pulmonary syndrome False False False -Orphanet:319251 Rift valley fever False False False -Orphanet:319254 Kyasanur forest disease False False False -Orphanet:319266 Omsk hemorrhagic fever False False False -Orphanet:319276 Clear cell renal carcinoma False False False -Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential False False False -Orphanet:319298 Papillary renal cell carcinoma False False False -Orphanet:3193 Supravalvular aortic stenosis False False False -Orphanet:319303 Chromophobe renal cell carcinoma False False False -Orphanet:319308 MiT family translocation renal cell carcinoma False False False -Orphanet:319319 Renal medullary carcinoma False False False -Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma False False False -Orphanet:319325 Tubulocystic renal cell carcinoma False False False -Orphanet:319328 Inherited renal cancer-predisposing syndrome False False False -Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita False False False -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome False False False -Orphanet:3194 Corneodermatoosseous syndrome False False False -Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations False False False -Orphanet:319465 Inherited acute myeloid leukemia False False False -Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations False False False -Orphanet:319487 Familial papillary or follicular thyroid carcinoma False False False -Orphanet:319494 Familial nonmedullary thyroid carcinoma False False False -Orphanet:319504 Combined oxidative phosphorylation defect type 8 False False False -Orphanet:319509 Combined oxidative phosphorylation defect type 9 False False False -Orphanet:319514 Combined oxidative phosphorylation defect type 13 False False False -Orphanet:319519 Combined oxidative phosphorylation defect type 14 False False False -Orphanet:319524 Combined oxidative phosphorylation defect type 15 False False False -Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency False False False -Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency False False False -Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency False False False -Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency False False False -Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency False False False -Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency False False False -Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency False False False -Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency False False False -Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency False False False -Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency False False False -Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency False False False -Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency False False False -Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome False False False -Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency False False False -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases False False False -Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency False False False -Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency False False False -Orphanet:319635 Amyloidosis cutis dyschromia False False False -Orphanet:319640 Retinal macular dystrophy type 2 False False False -Orphanet:319646 PGM1-CDG False False False -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease False False False -Orphanet:319667 Primary lymphoma of the conjunctiva False False False -Orphanet:319671 Alazami syndrome False False False -Orphanet:319675 Microcephalic primordial dwarfism, Dauber type False False False -Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome False False False -Orphanet:3197 Hereditary hyperekplexia False False False -Orphanet:319719 Autoinflammatory syndrome of childhood False False False -Orphanet:3198 Stiff person spectrum disorder False False False -Orphanet:3199 Stimmler syndrome False False False -Orphanet:32 Glutathione synthetase deficiency False False False -Orphanet:320 Apparent mineralocorticoid excess False False False -Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome False False False -Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome False False False -Orphanet:3202 Dehydrated hereditary stomatocytosis False False False -Orphanet:3203 Overhydrated hereditary stomatocytosis False False False -Orphanet:320332 X-linked pure spastic paraplegia False False False -Orphanet:320335 Pure or complex hereditary spastic paraplegia False False False -Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia False False False -Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia False False False -Orphanet:320350 Pure or complex X-linked spastic paraplegia False False False -Orphanet:320355 Autosomal dominant spastic paraplegia type 41 False False False -Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia False False False -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 False False False -Orphanet:320370 Autosomal recessive spastic paraplegia type 43 False False False -Orphanet:320375 Autosomal recessive spastic paraplegia type 55 False False False -Orphanet:320380 Autosomal recessive spastic paraplegia type 54 False False False -Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation False False False -Orphanet:320391 Autosomal recessive spastic paraplegia type 46 False False False -Orphanet:320396 Autosomal recessive spastic paraplegia type 45 False False False -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome False False False -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 False False False -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome False False False -Orphanet:320411 Autosomal recessive spastic paraplegia type 56 False False False -Orphanet:3205 Sturge-Weber syndrome False False False -Orphanet:3206 Stüve-Wiedemann syndrome False False False -Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome False False False -Orphanet:3208 Isolated succinate-CoQ reductase deficiency False False False -Orphanet:321 Multiple osteochondromas False False False -Orphanet:3210 Summitt syndrome False False False -Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type False False False -Orphanet:3216 Conductive deafness-malformed external ear syndrome False False False -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome False False False -Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome False False False -Orphanet:3219 Fountain syndrome False False False -Orphanet:322 Exstrophy-epispadias complex False False False -Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome False False False -Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues False False False -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity False False False -Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome False False False -Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome False False False -Orphanet:3226 Deafness-lymphedema-leukemia syndrome False False False -Orphanet:3230 Deafness-oligodontia syndrome False False False -Orphanet:3231 Deafness-onychodystrophy syndrome False False False -Orphanet:3232 Deafness-ear malformation-facial palsy syndrome False False False -Orphanet:3233 Cochleosaccular degeneration-cataract syndrome False False False -Orphanet:3235 Progressive deafness with stapes fixation False False False -Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome False False False -Orphanet:3237 Multiple synostoses syndrome False False False -Orphanet:3238 Cardiospondylocarpofacial syndrome False False False -Orphanet:3239 Deafness-vitiligo-achalasia syndrome False False False -Orphanet:324 Fabry disease False False False -Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome False False False -Orphanet:3241 Deafness-craniofacial syndrome False False False -Orphanet:3242 Renpenning syndrome False False False -Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency False False False -Orphanet:324290 Early-onset Lafora body disease False False False -Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis False False False -Orphanet:324299 Multiple paragangliomas associated with polycythemia False False False -Orphanet:3243 Sweet syndrome False False False -Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome False False False -Orphanet:324313 9p13 microdeletion syndrome False False False -Orphanet:324321 Sinoatrial node dysfunction and deafness False False False -Orphanet:324353 Congenital achiasma False False False -Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations False False False -Orphanet:324381 Hereditary inclusion body myopathy type 4 False False False -Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome False False False -Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome False False False -Orphanet:324422 ALG13-CDG False False False -Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia False False False -Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation False False False -Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation False False False -Orphanet:324535 Combined oxidative phosphorylation defect type 11 False False False -Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome False False False -Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome False False False -Orphanet:324569 Pontocerebellar hypoplasia type 8 False False False -Orphanet:324575 Hyperinsulinism due to HNF1A deficiency False False False -Orphanet:324581 Benign Samaritan congenital myopathy False False False -Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain False False False -Orphanet:324588 Familial dyskinesia and facial myokymia False False False -Orphanet:3246 Symphalangism with multiple anomalies of hands and feet False False False -Orphanet:324601 X-linked cleft palate and ankyloglossia False False False -Orphanet:324604 Classic multiminicore myopathy False False False -Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation False False False -Orphanet:324625 Chikungunya False False False -Orphanet:324632 Hendra virus infection False False False -Orphanet:324636 Autoerythrocyte sensitization syndrome False False False -Orphanet:324648 Invasive non-typhoidal salmonellosis False False False -Orphanet:324703 ABetaL34V amyloidosis False False False -Orphanet:324708 ABeta amyloidosis, Iowa type False False False -Orphanet:324713 ABeta amyloidosis, Italian type False False False -Orphanet:324718 ABetaA21G amyloidosis False False False -Orphanet:324723 ABeta amyloidosis, Arctic type False False False -Orphanet:324737 SRD5A3-CDG False False False -Orphanet:324761 Microcephalic primordial dwarfism False False False -Orphanet:324764 Trichorhinophalangeal syndrome False False False -Orphanet:3248 Distal symphalangism False False False -Orphanet:324924 Hereditary periodic fever syndrome False False False -Orphanet:324927 Pyogenic autoinflammatory syndrome False False False -Orphanet:324930 Granulomatous autoinflammatory syndrome False False False -Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome False False False -Orphanet:324936 Unclassified autoinflammatory syndrome False False False -Orphanet:324939 Periodic fever syndrome of childhood False False False -Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood False False False -Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood False False False Orphanet:324953 Unclassified autoinflammatory syndrome of childhood False False False Orphanet:324960 Unexplained periodic fever syndrome of childhood False False False -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis False False False -Orphanet:324972 MAGIC syndrome False False False -Orphanet:324977 Proteasome-associated autoinflammatory syndrome False False False -Orphanet:325 Congenital factor II deficiency False False False -Orphanet:3250 Proximal symphalangism False False False -Orphanet:325055 46,XX disorder of gonadal development False False False -Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess False False False -Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen False False False -Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen False False False -Orphanet:325109 Syndrome with 46,XX difference of sex development False False False -Orphanet:325118 46,XY disorder of gonadal development False False False -Orphanet:325124 Testicular agenesis False False False -Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome False False False -Orphanet:325345 46,XY ovotesticular difference of sex development False False False -Orphanet:325351 46,XY difference of sex development of endocrine origin False False False -Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency False False False -Orphanet:3255 Filippi syndrome False False False -Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency False False False -Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency False False False -Orphanet:325546 Sex chromosome difference of sex development False False False -Orphanet:325620 Difference of sex development of gynecological interest False False False -Orphanet:325632 46,XY difference of sex development of gynecological interest False False False -Orphanet:325638 Syndrome with difference of sex development of gynecological interest False False False -Orphanet:325665 Genetic difference of sex development of gynecological interest False False False -Orphanet:325690 Genetic difference of sex development False False False -Orphanet:325697 Genetic 46,XX difference of sex development False False False -Orphanet:325706 Genetic 46,XY difference of sex development False False False Orphanet:325713 Genetic 46,XY difference of sex development of endocrine origin False False False -Orphanet:3258 Cenani-Lenz syndrome False False False -Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome False False False -Orphanet:326 Congenital factor V deficiency False False False -Orphanet:3260 Idiopathic hypereosinophilic syndrome False False False -Orphanet:3261 Autoimmune lymphoproliferative syndrome False False False -Orphanet:3262 Dobrow syndrome False False False -Orphanet:3263 Syngnathia-cleft palate syndrome False False False -Orphanet:3265 Humero-radial synostosis False False False -Orphanet:3266 Humero-radio-ulnar synostosis False False False -Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome False False False -Orphanet:3269 Congenital radioulnar synostosis False False False -Orphanet:327 Congenital factor VII deficiency False False False -Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome False False False -Orphanet:3273 Synovial sarcoma False False False -Orphanet:3275 Spondylocarpotarsal synostosis False False False -Orphanet:3276 Disorder of plasmalogens biosynthesis False False False -Orphanet:328 Congenital factor X deficiency False False False -Orphanet:3280 Syringomyelia False False False -Orphanet:3282 Multifocal atrial tachycardia False False False -Orphanet:3283 His bundle tachycardia False False False -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia False False False -Orphanet:3287 Takayasu arteritis False False False -Orphanet:329 Congenital factor XI deficiency False False False -Orphanet:3291 Teebi-Shaltout syndrome False False False -Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis False False False -Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy False False False -Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome False False False -Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability False False False -Orphanet:3292 Tel Hashomer camptodactyly syndrome False False False -Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy False False False -Orphanet:329217 Cerebral sinovenous thrombosis False False False -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome False False False -Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency False False False -Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement False False False -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy False False False -Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency False False False -Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q False False False -Orphanet:329284 Beta-propeller protein-associated neurodegeneration False False False -Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome False False False -Orphanet:329303 PLA2G6-associated neurodegeneration False False False -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration False False False -Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency False False False -Orphanet:329319 Thrombocythemia with distal limb defects False False False -Orphanet:329324 Inverse Klippel-Trénaunay syndrome False False False -Orphanet:329329 Autosomal recessive frontotemporal pachygyria False False False -Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome False False False -Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy False False False -Orphanet:3294 Extensor tendons of finger anomalies False False False -Orphanet:329457 Distal arthrogryposis type 5D False False False -Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type False False False -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome False False False -Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome False False False -Orphanet:329478 Adult-onset distal myopathy due to VCP mutation False False False -Orphanet:329481 Lipoprotein glomerulopathy False False False -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome False False False -Orphanet:329802 5p13 microduplication syndrome False False False -Orphanet:329813 Mosaic genome-wide paternal uniparental disomy False False False -Orphanet:329874 Idiopathic giant cell myocarditis False False False -Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy False False False -Orphanet:329888 Juvenile idiopathic inflammatory myopathy False False False -Orphanet:329894 Juvenile overlap myositis False False False -Orphanet:3299 Tetanus False False False -Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis False False False -Orphanet:329918 C3 glomerulopathy False False False -Orphanet:329931 C3 glomerulonephritis False False False -Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency False False False -Orphanet:329967 Intermittent hydrarthrosis False False False -Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli False False False -Orphanet:329977 Classic neuroendocrine tumor of appendix False False False -Orphanet:329984 Goblet cell carcinoma False False False -Orphanet:33 Isovaleric acidemia False False False -Orphanet:330 Congenital factor XII deficiency False False False -Orphanet:330001 Wild type ATTR amyloidosis False False False -Orphanet:33001 Lymphedema-distichiasis syndrome False False False -Orphanet:330012 High altitude pulmonary edema False False False -Orphanet:330015 Lead poisoning False False False -Orphanet:330021 Mercury poisoning False False False -Orphanet:330029 Hypotrichosis-deafness syndrome False False False -Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome False False False -Orphanet:330041 Hemoglobin M disease False False False -Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect False False False -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome False False False -Orphanet:330058 Hydroa vacciniforme False False False -Orphanet:330061 Actinic prurigo False False False -Orphanet:330064 Chronic actinic dermatitis False False False -Orphanet:3301 Tetraamelia-multiple malformations syndrome False False False -Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability False False False -Orphanet:3303 Tetralogy of Fallot False False False -Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome False False False -Orphanet:3305 Tetraploidy False False False -Orphanet:3306 Inverted duplicated chromosome 15 syndrome False False False -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type False False False -Orphanet:33069 Dravet syndrome False False False -Orphanet:3307 Tetrasomy 18p False False False -Orphanet:3309 Tetrasomy 5p False False False -Orphanet:331 Congenital factor XIII deficiency False False False -Orphanet:3310 Tetrasomy 9p False False False -Orphanet:33108 Lethal multiple pterygium syndrome False False False -Orphanet:33110 Autosomal agammaglobulinemia False False False -Orphanet:33111 Granulomatous slack skin False False False -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency False False False -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency False False False -Orphanet:331190 Immunodeficiency due to ficolin3 deficiency False False False -Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity False False False -Orphanet:3312 Thalidomide embryopathy False False False -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency False False False -Orphanet:331217 Syndrome with combined immunodeficiency False False False -Orphanet:331220 Immunodeficiency due to absence of thymus False False False -Orphanet:331223 Hyper-IgE syndrome False False False -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency False False False -Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells False False False -Orphanet:331235 Selective IgM deficiency False False False -Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects False False False -Orphanet:3314 Thiemann disease, familial form False False False -Orphanet:3316 Thomas syndrome False False False -Orphanet:3317 Thoracolaryngopelvic dysplasia False False False -Orphanet:3318 Essential thrombocythemia False False False -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia False False False -Orphanet:332 Congenital intrinsic factor deficiency False False False -Orphanet:3320 Thrombocytopenia-absent radius syndrome False False False -Orphanet:33208 Idiopathic hypersomnia False False False -Orphanet:3322 Hoyeraal-Hreidarsson syndrome False False False -Orphanet:33226 Waldenström macroglobulinemia False False False -Orphanet:3324 Familial thrombomodulin anomalies False False False -Orphanet:3325 Heparin-induced thrombocytopenia False False False -Orphanet:3326 Thymic-renal-anal-lung dysplasia False False False -Orphanet:3327 Thyrocerebrorenal syndrome False False False -Orphanet:33276 Kaposi sarcoma False False False -Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome False False False -Orphanet:3329 Tibial aplasia-ectrodactyly syndrome False False False -Orphanet:333 Farber disease False False False -Orphanet:33314 Jessner lymphocytic infiltration of the skin False False False -Orphanet:33355 Reticular dysgenesis False False False -Orphanet:33364 Trichothiodystrophy False False False -Orphanet:3337 Primary Fanconi renotubular syndrome False False False -Orphanet:3338 Toriello-Carey syndrome False False False -Orphanet:3339 Toriello-Lacassie-Droste syndrome False False False -Orphanet:334 Familial atrial fibrillation False False False -Orphanet:33402 Pediatric hepatocellular carcinoma False False False -Orphanet:33408 Bullous lichen planus False False False -Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome False False False -Orphanet:3342 Arterial tortuosity syndrome False False False -Orphanet:3343 Toxocariasis False False False -Orphanet:3344 Weismann-Netter syndrome False False False -Orphanet:33445 Neuroectodermal melanolysosomal disease False False False -Orphanet:3346 Tracheal agenesis False False False -Orphanet:3347 Mounier-Kühn syndrome False False False -Orphanet:33475 Meningococcal meningitis False False False -Orphanet:3348 Tracheobronchopathia osteochondroplastica False False False -Orphanet:335 Congenital fibrinogen deficiency False False False -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome False False False -Orphanet:3351 Trichodental syndrome False False False -Orphanet:3352 Tricho-dento-osseous syndrome False False False -Orphanet:3353 Trichodermodysplasia-dental alterations syndrome False False False -Orphanet:33543 Kleine-Levin syndrome False False False -Orphanet:3355 Trichoodontoonychial dysplasia False False False -Orphanet:33572 5-oxoprolinase deficiency False False False -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency False False False -Orphanet:33574 Glutamate-cysteine ligase deficiency False False False -Orphanet:33577 Nodular non-suppurative panniculitis False False False -Orphanet:3361 Trichodysplasia-xeroderma syndrome False False False -Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome False False False -Orphanet:3365 Trigonocephaly-broad thumbs syndrome False False False -Orphanet:3366 Non-syndromic metopic craniosynostosis False False False -Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome False False False -Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome False False False -Orphanet:337 Fibrodysplasia ossificans progressiva False False False -Orphanet:3374 Unilateral ocular duplication False False False -Orphanet:3375 Trisomy X False False False -Orphanet:3376 Triploidy False False False -Orphanet:3377 Trismus-pseudocamptodactyly syndrome False False False -Orphanet:3378 Trisomy 13 False False False -Orphanet:3379 Distal duplication 17q False False False -Orphanet:3380 Trisomy 18 False False False -Orphanet:3383 Humerus trochlea aplasia False False False -Orphanet:3384 Truncus arteriosus False False False -Orphanet:3385 African trypanosomiasis False False False -Orphanet:3386 American trypanosomiasis False False False -Orphanet:3387 Isolated anterior cervical hypertrichosis False False False -Orphanet:3388 Neural tube defect False False False -Orphanet:3389 Tuberculosis False False False -Orphanet:3392 Tularemia False False False -Orphanet:3394 Soft tissue sarcoma False False False -Orphanet:3398 Thymic epithelial neoplasm False False False -Orphanet:340 Hemorrhagic fever-renal syndrome False False False -Orphanet:3400 Aorto-ventricular tunnel False False False -Orphanet:3402 Transient tyrosinemia of the newborn False False False -Orphanet:3403 Uhl anomaly False False False -Orphanet:3404 Ulbright-Hodes syndrome False False False -Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome False False False -Orphanet:3406 Ulerythema ophryogenesis False False False -Orphanet:3408 Upington disease False False False -Orphanet:3409 Urban-Rogers-Meyer syndrome False False False -Orphanet:341 Viral hemorrhagic fever False False False -Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome False False False -Orphanet:3412 VACTERL with hydrocephalus False False False -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease False False False -Orphanet:3416 Hyperostosis corticalis generalisata False False False -Orphanet:3417 Van den Bosch syndrome False False False -Orphanet:342 Familial Mediterranean fever False False False -Orphanet:34217 Naxos disease False False False -Orphanet:3424 Velo-facial-skeletal syndrome False False False -Orphanet:3426 Double outlet right ventricle False False False -Orphanet:3427 Double outlet left ventricle False False False -Orphanet:3429 Verloove Vanhorick-Brubakk syndrome False False False -Orphanet:343 Hyperimmunoglobulinemia D with periodic fever False False False -Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome False False False -Orphanet:3434 MMEP syndrome False False False -Orphanet:3437 Vogt-Koyanagi-Harada disease False False False -Orphanet:3439 Von Voss-Cherstvoy syndrome False False False -Orphanet:344 Arbovirus fever False False False -Orphanet:3440 Waardenburg syndrome False False False -Orphanet:3447 Weaver syndrome False False False -Orphanet:3448 Weaver-Williams syndrome False False False -Orphanet:3449 Weill-Marchesani syndrome False False False -Orphanet:345 Dissecting cellulitis of the scalp False False False -Orphanet:3451 Infantile spasms syndrome False False False -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 False False False -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 False False False -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 False False False -Orphanet:3452 Whipple disease False False False -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency False False False -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria False False False -Orphanet:3453 Autoimmune polyendocrinopathy type 1 False False False -Orphanet:34533 Corneal dystrophy False False False -Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome False False False -Orphanet:3455 Wiedemann-Rautenstrauch syndrome False False False -Orphanet:3456 Wildervanck syndrome False False False -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency False False False -Orphanet:3459 Wilson-Turner syndrome False False False -Orphanet:34592 Immunodeficiency by defective expression of MHC class I False False False -Orphanet:346 Quinquaud folliculitis decalvans False False False -Orphanet:3463 Wolfram syndrome False False False -Orphanet:3464 Woodhouse-Sakati syndrome False False False -Orphanet:3465 Worster-Drought syndrome False False False -Orphanet:3466 WT limb-blood syndrome False False False -Orphanet:3467 Hereditary xanthinuria False False False -Orphanet:3469 XK aprosencephaly syndrome False False False -Orphanet:347 Frasier syndrome False False False -Orphanet:3471 Young syndrome False False False -Orphanet:3472 Yunis-Varon syndrome False False False -Orphanet:3473 Zimmermann-Laband syndrome False False False -Orphanet:3474 CHIME syndrome False False False -Orphanet:348 Fructose-1,6-bisphosphatase deficiency False False False -Orphanet:349 Fucosidosis False False False -Orphanet:35 Propionic acidemia False False False -Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients False False False -Orphanet:35063 Fulminant viral hepatitis False False False -Orphanet:35069 Infantile neuroaxonal dystrophy False False False -Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency False False False -Orphanet:35093 Non-syndromic sagittal craniosynostosis False False False -Orphanet:35099 Non-syndromic bicoronal craniosynostosis False False False -Orphanet:351 Galactosialidosis False False False -Orphanet:35107 Desmosterolosis False False False -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency False False False -Orphanet:35121 Lysosomal acid phosphatase deficiency False False False -Orphanet:35122 Congenital sucrase-isomaltase deficiency False False False -Orphanet:35125 Epidermal nevus syndrome False False False -Orphanet:35173 X-linked dominant chondrodysplasia punctata False False False -Orphanet:352 Galactosemia False False False -Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis False False False -Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement False False False -Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement False False False -Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement False False False -Orphanet:352328 MEGDEL syndrome False False False -Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome False False False -Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia False False False -Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome False False False -Orphanet:352456 Mitochondrial DNA maintenance syndrome False False False -Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome False False False -Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 False False False -Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency False False False -Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome False False False -Orphanet:352540 Oncogenic osteomalacia False False False -Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency False False False -Orphanet:352577 Bainbridge-Ropers syndrome False False False -Orphanet:352582 Familial infantile myoclonic epilepsy False False False -Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation False False False -Orphanet:352596 Progressive myoclonic epilepsy with dystonia False False False -Orphanet:352629 16q24.1 microdeletion syndrome False False False -Orphanet:352636 Phalangeal microgeodic syndrome False False False -Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity False False False -Orphanet:352649 Brain dopamine-serotonin vesicular transport disease False False False -Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome False False False -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis False False False -Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome False False False -Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion False False False -Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F False False False -Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 False False False -Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement False False False -Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies False False False -Orphanet:352709 CLN13 disease False False False -Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome False False False -Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect False False False -Orphanet:352723 Attenuated Chédiak-Higashi syndrome False False False -Orphanet:352728 Disorder of melanin metabolism False False False -Orphanet:352731 Oculocutaneous albinism type 1 False False False -Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 False False False -Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 False False False -Orphanet:352745 Oculocutaneous albinism type 7 False False False -Orphanet:352763 Scleredema False False False -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 False False False -Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination False False False -Orphanet:353220 Familial primary localized cutaneous amyloidosis False False False -Orphanet:353253 Burning mouth syndrome False False False -Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations False False False -Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion False False False -Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency False False False -Orphanet:353298 Roifman syndrome False False False -Orphanet:353308 Pyruvate carboxylase deficiency, infantile type False False False -Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type False False False -Orphanet:353320 Pyruvate carboxylase deficiency, benign type False False False -Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect False False False -Orphanet:353334 Congenital retinal arteriovenous communication False False False -Orphanet:353344 Idiopathic macular telangiectasia type 1 False False False -Orphanet:353351 Idiopathic macular telangiectasia type 3 False False False -Orphanet:353356 Vasoproliferative tumor of the retina False False False -Orphanet:354 GM1 gangliosidosis False False False -Orphanet:355 Gaucher disease False False False -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome False False False -Orphanet:35612 Nanophthalmos False False False -Orphanet:35656 Coenzyme Q10 deficiency False False False -Orphanet:35664 ALDH18A1-related De Barsy syndrome False False False -Orphanet:35686 Serpiginous choroiditis False False False -Orphanet:35687 Erdheim-Chester disease False False False -Orphanet:35689 Primary lateral sclerosis False False False -Orphanet:356947 3q26q27 microdeletion syndrome False False False -Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis False False False -Orphanet:356961 SLC35A2-CDG False False False -Orphanet:356978 D,L-2-hydroxyglutaric aciduria False False False -Orphanet:35698 Mitochondrial DNA depletion syndrome False False False -Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome False False False -Orphanet:357001 19p13.13 microdeletion syndrome False False False -Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency False False False -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency False False False -Orphanet:357027 Hereditary retinoblastoma False False False -Orphanet:357034 Non-hereditary retinoblastoma False False False -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency False False False -Orphanet:357043 Amyotrophic lateral sclerosis type 4 False False False -Orphanet:35705 Neurometabolic disorder due to serine deficiency False False False -Orphanet:357058 Autosomal recessive cutis laxa type 2A False False False -Orphanet:35706 Glutaric acidemia type 3 False False False -Orphanet:357064 Autosomal recessive cutis laxa type 2B False False False -Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type False False False -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency False False False -Orphanet:35710 Glucose-galactose malabsorption False False False -Orphanet:357107 Arterial thoracic outlet syndrome False False False -Orphanet:357131 Venous thoracic outlet syndrome False False False -Orphanet:357154 Oral submucous fibrosis False False False -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome False False False -Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome False False False -Orphanet:357220 Primary essential cutis verticis gyrata False False False -Orphanet:357225 Primary non-essential cutis verticis gyrata False False False -Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency False False False -Orphanet:357329 Combined immunodeficiency due to IL21R deficiency False False False -Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome False False False -Orphanet:35737 Morning glory disc anomaly False False False -Orphanet:358 Gitelman syndrome False False False -Orphanet:35808 Malignant sex cord stromal tumor of ovary False False False -Orphanet:35858 Imerslund-Gräsbeck syndrome False False False -Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome False False False -Orphanet:35889 Acute opioid intoxication False False False -Orphanet:359 Pediatric-onset glaucoma of genetic origin False False False -Orphanet:35909 Combined deficiency of factor V and factor VIII False False False -Orphanet:35981 Polymicrogyria False False False -Orphanet:36 Acrocallosal syndrome False False False -Orphanet:360 Glioblastoma False False False -Orphanet:361 Familial glucocorticoid deficiency False False False -Orphanet:36204 Intestinal lymphangiectasia False False False -Orphanet:36234 Bacterial toxic-shock syndrome False False False -Orphanet:36235 Staphylococcal scarlet fever False False False -Orphanet:36236 Staphylococcal scalded skin syndrome False False False -Orphanet:36237 Bullous impetigo False False False -Orphanet:36238 Staphylococcal necrotizing pneumonia False False False -Orphanet:36258 Buerger disease False False False -Orphanet:36273 Gastric linitis plastica False False False -Orphanet:363189 Congenital anomaly of the great veins False False False -Orphanet:363203 Ring chromosome False False False -Orphanet:363245 Genetic progeroid syndrome False False False -Orphanet:363250 Ciliopathy False False False -Orphanet:363294 Genetic syndromic Pierre Robin syndrome False False False -Orphanet:363300 Genetic intractable diarrhea of infancy False False False -Orphanet:363306 Genetic intestinal disease due to fat malabsorption False False False -Orphanet:363314 Genetic intestinal polyposis False False False -Orphanet:363396 High myopia-sensorineural deafness syndrome False False False -Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy False False False -Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome False False False -Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity False False False -Orphanet:363417 Temtamy preaxial brachydactyly syndrome False False False -Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 False False False -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome False False False -Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency False False False -Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome False False False -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy False False False -Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy False False False -Orphanet:363472 Tumor of testis and paratestis False False False -Orphanet:363478 Paratesticular adenocarcinoma False False False -Orphanet:363483 Testicular teratoma False False False -Orphanet:363489 Sex cord-stromal tumor of testis False False False -Orphanet:363494 Non-seminomatous germ cell tumor of testis False False False -Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome False False False -Orphanet:363528 Intellectual disability-strabismus syndrome False False False -Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form False False False -Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema False False False -Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion False False False -Orphanet:36355 Bleeding disorder due to P2Y12 defect False False False -Orphanet:363558 New-onset refractory status epilepticus False False False -Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus False False False -Orphanet:363611 CTCF-related neurodevelopmental disorder False False False -Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome False False False -Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 False False False -Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome False False False -Orphanet:363654 X-linked parkinsonism-spasticity syndrome False False False -Orphanet:363659 20q11.2 microduplication syndrome False False False -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome False False False -Orphanet:36367 Distal deletion 1q False False False -Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia False False False -Orphanet:363680 2p13.2 microdeletion syndrome False False False -Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome False False False -Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome False False False -Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion False False False -Orphanet:363705 Craniofaciofrontodigital syndrome False False False -Orphanet:363710 Spinocerebellar ataxia type 37 False False False -Orphanet:363717 Alexander disease type I False False False -Orphanet:363722 Alexander disease type II False False False -Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia False False False -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome False False False -Orphanet:363746 Balint syndrome False False False -Orphanet:36382 Familial cervical artery dissection False False False -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy False False False -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 False False False -Orphanet:36387 Generalized epilepsy with febrile seizures-plus False False False -Orphanet:36388 Paraneoplastic neurologic syndrome False False False -Orphanet:363958 17q21.31 microdeletion syndrome False False False -Orphanet:363965 Koolen-De Vries syndrome due to a point mutation False False False -Orphanet:363969 Autosomal recessive cerebral atrophy False False False -Orphanet:36397 Adiposis dolorosa False False False -Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia False False False -Orphanet:363976 Giant cell tumor of bone False False False -Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 False False False -Orphanet:363989 Familial benign flecked retina False False False -Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome False False False -Orphanet:363999 Non-immune hydrops fetalis False False False -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency False False False -Orphanet:364013 Immune hydrops fetalis False False False -Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations False False False -Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood False False False -Orphanet:364039 Hydroa vacciniforme-like lymphoma False False False -Orphanet:364043 ALK-positive large B-cell lymphoma False False False -Orphanet:364055 Severe early-childhood-onset retinal dystrophy False False False -Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy False False False -Orphanet:36412 Hypocomplementemic urticarial vasculitis False False False -Orphanet:364198 Bipartite talus False False False -Orphanet:36426 Stevens-Johnson syndrome False False False -Orphanet:364526 Primary bone dysplasia False False False -Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments False False False -Orphanet:364536 Primary bone dysplasia with micromelia False False False -Orphanet:364541 Otopalatodigital syndrome spectrum disorder False False False -Orphanet:364559 Dysostosis False False False -Orphanet:364568 Dysostosis with limb anomaly as a major feature False False False -Orphanet:364571 Dysostosis with limb and face anomalies as a major feature False False False -Orphanet:364574 Acrofacial dysostosis False False False -Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome False False False -Orphanet:364803 Rare bone disease related to a common gene or pathway defect False False False -Orphanet:364817 Aggrecan-related bone disorder False False False -Orphanet:364820 TRPV4-related bone disorder False False False -Orphanet:365 Glycogen storage disease due to acid maltase deficiency False False False -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency False False False -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency False False False -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency False False False -Orphanet:36899 Myoclonus-dystonia syndrome False False False -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency False False False -Orphanet:36913 Autoimmune hypoparathyroidism False False False -Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome False False False -Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 False False False -Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome False False False -Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome False False False -Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome False False False -Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C False False False -Orphanet:369873 Obesity due to SIM1 deficiency False False False -Orphanet:369881 2p21 microdeletion syndrome without cystinuria False False False -Orphanet:369886 Homozygous 2p21 microdeletion syndrome False False False -Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency False False False -Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies False False False -Orphanet:369913 Combined oxidative phosphorylation defect type 17 False False False -Orphanet:369920 Pontocerebellar hypoplasia type 9 False False False -Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome False False False -Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome False False False -Orphanet:369942 CADDS False False False -Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome False False False -Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ False False False -Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX False False False -Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome False False False -Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome False False False -Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome False False False -Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures False False False -Orphanet:37 Acrodermatitis enteropathica False False False -Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency False False False -Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses False False False -Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome False False False -Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type False False False -Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome False False False -Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation False False False -Orphanet:370034 Familial syringomyelia False False False -Orphanet:370039 Angora hair nevus False False False -Orphanet:370046 Didymosis aplasticosebacea False False False -Orphanet:370052 SCALP syndrome False False False -Orphanet:370059 NEVADA syndrome False False False -Orphanet:370068 Fetal anticonvulsant syndrome False False False -Orphanet:370076 Fetal carbamazepine syndrome False False False -Orphanet:370079 Proximal 16p11.2 microduplication syndrome False False False -Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome False False False -Orphanet:370091 Oculocutaneous albinism type 5 False False False -Orphanet:370097 Oculocutaneous albinism type 6 False False False -Orphanet:370103 Primary dystonia, DYT17 type False False False -Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation False False False -Orphanet:370109 Ataxia-telangiectasia variant False False False -Orphanet:370127 Medich giant platelet syndrome False False False -Orphanet:370131 White platelet syndrome False False False -Orphanet:370334 Extraskeletal Ewing sarcoma False False False -Orphanet:370348 Peripheral primitive neuroectodermal tumor False False False -Orphanet:370396 Small cell carcinoma of the ovary False False False -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome False False False -Orphanet:370921 STT3A-CDG False False False -Orphanet:370924 STT3B-CDG False False False -Orphanet:370927 SSR4-CDG False False False -Orphanet:370930 XYLT1-CDG False False False -Orphanet:370933 GM3 synthase deficiency False False False -Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome False False False -Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy False False False -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement False False False -Orphanet:370968 Congenital muscular dystrophy with intellectual disability False False False -Orphanet:370980 Congenital muscular dystrophy without intellectual disability False False False -Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy False False False -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency False False False -Orphanet:371007 Congenital muscular dystrophy with hyperlaxity False False False -Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan False False False -Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan False False False -Orphanet:371047 Congenital disorder of glycosylation with neurological involvement False False False -Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature False False False -Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement False False False -Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature False False False -Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement False False False -Orphanet:371195 Congenital disorder of glycosylation-related bone disorder False False False -Orphanet:371200 Congenital disorder of glycosylation with skin involvement False False False -Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature False False False -Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature False False False -Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly False False False -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome False False False -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum False False False -Orphanet:371433 Genetic periodic paralysis False False False -Orphanet:371436 Genetic neurovascular malformation False False False -Orphanet:371442 Sphingolipidosis with epilepsy False False False -Orphanet:371445 Genetic syndromic esophageal malformation False False False -Orphanet:371861 Genetic hyperaldosteronism False False False -Orphanet:37202 Interstitial cystitis False False False -Orphanet:373 Simpson-Golabi-Behmel syndrome False False False -Orphanet:375 Anti-glomerular basement membrane disease False False False -Orphanet:37553 Andersen-Tawil syndrome False False False -Orphanet:37559 Acquired kinky hair syndrome False False False -Orphanet:376 Gordon syndrome False False False -Orphanet:37612 Episodic ataxia type 1 False False False -Orphanet:376724 Generalized isolated dystonia False False False -Orphanet:377 Gorlin syndrome False False False -Orphanet:37748 Schnitzler syndrome False False False -Orphanet:377788 disease False False False -Orphanet:377789 malformation syndrome False False False -Orphanet:377790 biological anomaly False False False -Orphanet:377791 morphological anomaly False False False -Orphanet:377792 clinical syndrome False False False -Orphanet:377793 particular clinical situation in a disease or syndrome False False False -Orphanet:379 Chronic granulomatous disease False False False -Orphanet:38 Acrokeratoelastoidosis of Costa False False False -Orphanet:380 Greig cephalopolysyndactyly syndrome False False False -Orphanet:381 Griscelli syndrome False False False -Orphanet:382 Guanidinoacetate methyltransferase deficiency False False False -Orphanet:384 Huriez syndrome False False False -Orphanet:385 Neurodegeneration with brain iron accumulation False False False -Orphanet:386 Hepatic cystic hamartoma False False False -Orphanet:388 Hirschsprung disease False False False -Orphanet:38874 Dihydropyrimidinuria False False False -Orphanet:389 Langerhans cell histiocytosis False False False -Orphanet:39 Acromelanosis False False False -Orphanet:390 Histoplasmosis False False False -Orphanet:39041 Omenn syndrome False False False -Orphanet:39044 Uveal melanoma False False False -Orphanet:391 Classic Hodgkin lymphoma False False False -Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome False False False -Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency False False False -Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression False False False -Orphanet:391320 East Texas bleeding disorder False False False -Orphanet:391327 X-linked calvarial hyperostosis False False False -Orphanet:391330 X-linked osteoporosis with fractures False False False -Orphanet:391343 Fatal post-viral neurodegenerative disorder False False False -Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome False False False -Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 False False False -Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome False False False -Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome False False False -Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome False False False -Orphanet:391381 Disorder of asparagine metabolism False False False -Orphanet:391384 Familial episodic pain syndrome False False False -Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement False False False -Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement False False False -Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 False False False -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome False False False -Orphanet:391411 Atypical juvenile parkinsonism False False False -Orphanet:391417 HSD10 disease False False False -Orphanet:391428 HSD10 disease, infantile type False False False -Orphanet:391457 HSD10 disease, neonatal type False False False -Orphanet:391474 Frontorhiny False False False -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome False False False -Orphanet:391490 Adult-onset myasthenia gravis False False False -Orphanet:391497 Juvenile myasthenia gravis False False False -Orphanet:391504 Transient neonatal myasthenia gravis False False False -Orphanet:391641 Feingold syndrome type 1 False False False -Orphanet:391646 Feingold syndrome type 2 False False False -Orphanet:391651 Glomus tumor False False False -Orphanet:391665 Homozygous familial hypercholesterolemia False False False -Orphanet:391673 Necrotizing enterocolitis False False False -Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome False False False -Orphanet:391711 Persistent combined dystonia False False False -Orphanet:391723 Mucinous adenocarcinoma of the appendix False False False -Orphanet:391799 Rare genetic dystonia False False False -Orphanet:392 Holt-Oram syndrome False False False -Orphanet:393 46,XX testicular difference of sex development False False False -Orphanet:394 Classic homocystinuria False False False -Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type False False False -Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type False False False -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency False False False -Orphanet:396 Chronic hiccup False False False -Orphanet:397 Giant cell arteritis False False False -Orphanet:397587 Deep dermatophytosis False False False -Orphanet:397590 Silver-Russell syndrome due to a point mutation False False False -Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency False False False -Orphanet:397596 Activated PI3K-delta syndrome False False False -Orphanet:397606 PrP systemic amyloidosis False False False -Orphanet:397612 Macrocephaly-developmental delay syndrome False False False -Orphanet:397615 Obesity due to CEP19 deficiency False False False -Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome False False False -Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome False False False -Orphanet:397685 Familial hyperprolactinemia False False False -Orphanet:397692 Hereditary isolated aplastic anemia False False False -Orphanet:397695 3q27.3 microdeletion syndrome False False False -Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome False False False -Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy False False False -Orphanet:397725 COASY protein-associated neurodegeneration False False False -Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U False False False -Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome False False False -Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy False False False -Orphanet:397755 Periodic paralysis with transient compartment-like syndrome False False False -Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies False False False -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency False False False -Orphanet:397922 Ferro-cerebro-cutaneous syndrome False False False -Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome False False False -Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome False False False -Orphanet:397937 Polyglucosan body myopathy type 1 False False False -Orphanet:397941 MAN1B1-CDG False False False -Orphanet:397946 Autosomal spastic paraplegia type 58 False False False -Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome False False False -Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency False False False -Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency False False False -Orphanet:397968 Charcot-Marie-Tooth disease type 2R False False False -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome False False False -Orphanet:398043 Malignant tumor of penis False False False -Orphanet:398053 Adenocarcinoma of the penis False False False -Orphanet:398058 Squamous cell carcinoma of the penis False False False -Orphanet:398063 Refractory celiac disease False False False -Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome False False False -Orphanet:398073 Prader-Willi-like syndrome False False False -Orphanet:398079 SIM1-related Prader-Willi-like syndrome False False False -Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin False False False -Orphanet:398091 Secondary neonatal autoimmune disease False False False -Orphanet:398097 Neonatal antiphospholipid syndrome False False False -Orphanet:398109 Neonatal autoimmune hemolytic anemia False False False -Orphanet:398117 Neonatal dermatomyositis False False False -Orphanet:39812 Graft versus host disease False False False -Orphanet:398124 Neonatal lupus erythematosus False False False -Orphanet:398127 Neonatal scleroderma False False False -Orphanet:398147 Persistent idiopathic facial pain False False False -Orphanet:398156 Oculoauriculofrontonasal syndrome False False False -Orphanet:398166 Focal facial dermal dysplasia False False False -Orphanet:398173 Focal facial dermal dysplasia type II False False False -Orphanet:398189 Focal facial dermal dysplasia type IV False False False -Orphanet:398934 Malignant epithelial tumor of ovary False False False -Orphanet:398940 Malignant non-epithelial tumor of ovary False False False -Orphanet:398961 Mucinous adenocarcinoma of ovary False False False -Orphanet:398971 Clear cell adenocarcinoma of the ovary False False False -Orphanet:398987 Malignant teratoma of ovary False False False -Orphanet:399 Huntington disease False False False -Orphanet:399058 Alpha-B crystallin-related late-onset myopathy False False False -Orphanet:399081 KLHL9-related early-onset distal myopathy False False False -Orphanet:399086 Finnish upper limb-onset distal myopathy False False False -Orphanet:399096 Distal anoctaminopathy False False False -Orphanet:399103 Distal nebulin myopathy False False False -Orphanet:399158 Osteonecrosis False False False -Orphanet:399164 Avascular necrosis False False False -Orphanet:399169 Secondary avascular necrosis False False False -Orphanet:399175 Traumatic avascular necrosis False False False -Orphanet:399180 Secondary non-traumatic avascular necrosis False False False -Orphanet:399185 Rare hereditary disease with avascular necrosis False False False -Orphanet:399293 Osteonecrosis of the jaw False False False -Orphanet:399302 Primary avascular necrosis False False False -Orphanet:399307 Idiopathic avascular necrosis False False False -Orphanet:399319 Osteochondrosis False False False -Orphanet:399329 Epiphysiolysis of the hip False False False -Orphanet:399380 Osteonecrosis of genetic origin False False False -Orphanet:399388 Avascular necrosis of genetic origin False False False -Orphanet:399391 Osteochondrosis of genetic origin False False False -Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder False False False -Orphanet:399584 Rare male infertility due to adrenal disorder False False False -Orphanet:399685 Rare male infertility due to testicular endocrine disorder False False False -Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder False False False -Orphanet:399771 Male infertility due to sperm disorder False False False -Orphanet:399775 Male infertility with spermatogenesis disorder False False False -Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation False False False -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation False False False -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation False False False -Orphanet:399813 Male infertility due to sperm motility disorder False False False -Orphanet:399824 Rare disorder with obstructive azoospermia False False False -Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder False False False -Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism False False False -Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism False False False -Orphanet:399849 Rare female infertility due to an adrenal disorder False False False -Orphanet:399853 Rare female infertility due to an anomaly of ovarian function False False False -Orphanet:399877 Rare female infertility due to gonadal dysgenesis False False False -Orphanet:399882 Rare female infertility due to an implantation defect False False False -Orphanet:399980 Rare genetic male infertility False False False -Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin False False False -Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin False False False -Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin False False False -Orphanet:40 Acromesomelic dysplasia, Maroteaux type False False False -Orphanet:400 Cystic echinococcosis False False False -Orphanet:400003 Rare genetic disorder with obstructive azoospermia False False False -Orphanet:400008 Rare genetic female infertility False False False -Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin False False False -Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin False False False -Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin False False False -Orphanet:400025 Female infertility due to an implantation defect of genetic origin False False False -Orphanet:401 Hymenolepiasis False False False -Orphanet:401764 Pancytopenia-developmental delay syndrome False False False -Orphanet:401768 Proximal myopathy with extrapyramidal signs False False False -Orphanet:401777 Optic atrophy-intellectual disability syndrome False False False -Orphanet:401780 Autosomal recessive spastic paraplegia type 61 False False False -Orphanet:401785 Autosomal recessive spastic paraplegia type 62 False False False -Orphanet:401795 Autosomal recessive spastic paraplegia type 59 False False False -Orphanet:401800 Autosomal recessive spastic paraplegia type 60 False False False -Orphanet:401805 Autosomal recessive spastic paraplegia type 63 False False False -Orphanet:401810 Autosomal recessive spastic paraplegia type 64 False False False -Orphanet:401815 Autosomal recessive spastic paraplegia type 66 False False False -Orphanet:401820 Autosomal recessive spastic paraplegia type 67 False False False -Orphanet:401830 Autosomal recessive spastic paraplegia type 69 False False False -Orphanet:401835 Autosomal recessive spastic paraplegia type 70 False False False -Orphanet:401840 Autosomal recessive spastic paraplegia type 71 False False False -Orphanet:401849 Autosomal spastic paraplegia type 72 False False False -Orphanet:401854 Lipoic acid biosynthesis defect False False False -Orphanet:401859 Lipoic acid synthetase deficiency False False False -Orphanet:401862 Lipoyl transferase 1 deficiency False False False -Orphanet:401866 Childhood-onset spasticity with hyperglycinemia False False False -Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 False False False -Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 False False False -Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions False False False -Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis False False False -Orphanet:401920 Fibrolamellar hepatocellular carcinoma False False False -Orphanet:401923 9q31.1q31.3 microdeletion syndrome False False False -Orphanet:401935 14q24.1q24.3 microdeletion syndrome False False False -Orphanet:401942 Familial median cleft of the upper and lower lips False False False -Orphanet:401945 Moyamoya disease with early-onset achalasia False False False -Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency False False False -Orphanet:401953 Episodic ataxia with slurred speech False False False -Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome False False False -Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons False False False -Orphanet:401973 MEND syndrome False False False -Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type False False False -Orphanet:401986 1p31p32 microdeletion syndrome False False False -Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum False False False -Orphanet:401996 Karyomegalic interstitial nephritis False False False -Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering False False False -Orphanet:402007 Lichen myxedematosus False False False -Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) False False False -Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) False False False -Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) False False False -Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) False False False -Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations False False False -Orphanet:402029 Primary eosinophilic gastrointestinal disease False False False -Orphanet:402035 Eosinophilic colitis False False False -Orphanet:402041 Autosomal recessive distal renal tubular acidosis False False False -Orphanet:402075 Familial bicuspid aortic valve False False False -Orphanet:402082 Progressive myoclonic epilepsy type 5 False False False -Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly False False False -Orphanet:402823 Hepatitis delta False False False -Orphanet:403 Familial hyperaldosteronism type I False False False -Orphanet:40366 Acitretin/etretinate embryopathy False False False -Orphanet:404 Familial hyperaldosteronism type II False False False -Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome False False False -Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency False False False -Orphanet:404443 Tatton-Brown-Rahman syndrome False False False -Orphanet:404448 ADNP syndrome False False False -Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome False False False -Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome False False False -Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome False False False -Orphanet:404466 Female infertility due to zona pellucida defect False False False -Orphanet:404469 Rare female infertility due to oocyte maturation defect False False False -Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome False False False -Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome False False False -Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome False False False -Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency False False False -Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency False False False -Orphanet:404507 Chondromyxoid fibroma False False False -Orphanet:404511 Clear cell papillary renal cell carcinoma False False False -Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma False False False -Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 False False False -Orphanet:404538 X-linked distal hereditary motor neuropathy False False False -Orphanet:404546 DITRA False False False -Orphanet:404553 Vasculitis due to ADA2 deficiency False False False -Orphanet:404560 Familial atypical multiple mole melanoma syndrome False False False -Orphanet:404568 Dysostosis of genetic origin False False False -Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature False False False -Orphanet:404584 Rare genetic bone development disorder False False False -Orphanet:405 Familial hypocalciuric hypercalcemia False False False -Orphanet:407 Glycine encephalopathy False False False -Orphanet:408 Isolated glycerol kinase deficiency False False False -Orphanet:409 Hyperkeratosis lenticularis perstans False False False -Orphanet:40923 Eales disease False False False -Orphanet:41 Dyschromatosis symmetrica hereditaria False False False -Orphanet:411493 Pontocerebellar hypoplasia type 10 False False False -Orphanet:411501 Williams-Campbell syndrome False False False -Orphanet:411511 Angelman syndrome due to a point mutation False False False -Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 False False False -Orphanet:411527 Central retinal vein occlusion False False False -Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity False False False -Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity False False False -Orphanet:411590 Wolfram-like syndrome False False False -Orphanet:411593 Insulin autoimmune syndrome False False False -Orphanet:411602 Hereditary late-onset Parkinson disease False False False -Orphanet:411629 Infantile nephropathic cystinosis False False False -Orphanet:411634 Juvenile nephropathic cystinosis False False False -Orphanet:411641 Ocular cystinosis False False False -Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia False False False -Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection False False False -Orphanet:411709 Renal agenesis False False False -Orphanet:411712 Maternal riboflavin deficiency False False False -Orphanet:411777 Generalized eruptive keratoacanthoma False False False -Orphanet:411788 Familial isolated trichomegaly False False False -Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome False False False -Orphanet:412 Dysbetalipoproteinemia False False False -Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome False False False -Orphanet:412035 13q12.3 microdeletion syndrome False False False -Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency False False False -Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments False False False -Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome False False False -Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency False False False -Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency False False False -Orphanet:412206 Primary failure of tooth eruption False False False -Orphanet:412217 Dystonia-aphonia syndrome False False False -Orphanet:413693 Prediction of curariform drugs toxicity False False False -Orphanet:413696 Prediction of statin toxicity False False False -Orphanet:414 Gyrate atrophy of choroid and retina False False False -Orphanet:414726 Genetic facial cleft False False False -Orphanet:414750 Prediction of phenytoin or carbamazepine toxicity False False False -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome False False False -Orphanet:415286 Bilirubin encephalopathy False False False -Orphanet:416 Primary hyperoxaluria False False False -Orphanet:417 Neonatal severe primary hyperparathyroidism False False False -Orphanet:41751 Bietti crystalline dystrophy False False False -Orphanet:418 Congenital adrenal hyperplasia False False False -Orphanet:418945 Carcinoma of esophagus, salivary gland type False False False -Orphanet:418951 Undifferentiated carcinoma of esophagus False False False -Orphanet:418959 Squamous cell carcinoma of the stomach False False False -Orphanet:419 Hyperprolinemia type 1 False False False -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency False False False -Orphanet:420179 Malan overgrowth syndrome False False False -Orphanet:420259 Secondary pulmonary alveolar proteinosis False False False -Orphanet:420402 Semicircular canal dehiscence syndrome False False False -Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset False False False -Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement False False False -Orphanet:420492 Adult-onset cervical dystonia, DYT23 type False False False -Orphanet:420556 Visual snow syndrome False False False -Orphanet:420561 Temple-Baraitser syndrome False False False -Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency False False False -Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency False False False -Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome False False False -Orphanet:420611 Transient myeloproliferative syndrome False False False -Orphanet:42062 Iminoglycinuria False False False -Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome False False False -Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency False False False -Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency False False False -Orphanet:420728 Combined oxidative phosphorylation defect type 20 False False False -Orphanet:420733 Combined oxidative phosphorylation defect type 21 False False False -Orphanet:420741 RIDDLE syndrome False False False -Orphanet:420755 Rare genetic odontal or periodontal disorder False False False -Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea False False False -Orphanet:420794 Cono-spondylar dysplasia False False False -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension False False False -Orphanet:422526 Hereditary clear cell renal cell carcinoma False False False -Orphanet:423 Malignant hyperthermia of anesthesia False False False -Orphanet:423275 Spinocerebellar ataxia type 40 False False False -Orphanet:423296 Spinocerebellar ataxia type 38 False False False -Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome False False False -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency False False False -Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome False False False -Orphanet:423461 Mucolipidosis type III alpha/beta False False False -Orphanet:423470 Mucolipidosis type III gamma False False False -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome False False False -Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum False False False -Orphanet:423662 Rare autonomic nervous system disorder False False False -Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect False False False -Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy False False False -Orphanet:423717 Cutaneous larva migrans False False False -Orphanet:423771 Rare carcinoma of stomach False False False -Orphanet:423776 Hereditary gastric cancer False False False -Orphanet:423786 Undifferentiated carcinoma of stomach False False False -Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome False False False -Orphanet:423968 Squamous cell carcinoma of the small intestine False False False -Orphanet:423994 Squamous cell carcinoma of the colon False False False -Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor False False False -Orphanet:424002 Squamous cell carcinoma of the rectum False False False -Orphanet:424016 Adenocarcinoma of the anal canal False False False -Orphanet:424019 Squamous cell carcinoma of the anal canal False False False -Orphanet:424027 Progressive myoclonic epilepsy type 8 False False False -Orphanet:424033 Rare epithelial tumor of pancreas False False False -Orphanet:424039 Squamous cell carcinoma of pancreas False False False -Orphanet:424046 Acinar cell carcinoma of pancreas False False False -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas False False False -Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas False False False -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas False False False -Orphanet:424073 Serous cystadenocarcinoma of pancreas False False False -Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas False False False -Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome False False False -Orphanet:424107 Congenital myopathy with myasthenic-like onset False False False -Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy False False False -Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 False False False -Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract False False False -Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract False False False -Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract False False False -Orphanet:424982 Biliary cystadenocarcinoma False False False -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract False False False -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract False False False -Orphanet:425 Apolipoprotein A-I deficiency False False False -Orphanet:425003 Inherited digestive cancer-predisposing syndrome False False False -Orphanet:425120 STING-associated vasculopathy with onset in infancy False False False -Orphanet:42642 PFAPA syndrome False False False -Orphanet:42665 Tietz syndrome False False False -Orphanet:427 Familial hypoaldosteronism False False False -Orphanet:42775 PHACE syndrome False False False -Orphanet:428 Autosomal dominant hypocalcemia False False False -Orphanet:429 Hypochondroplasia False False False -Orphanet:43 X-linked adrenoleukodystrophy False False False -Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome False False False -Orphanet:431149 Combined immunodeficiency due to OX40 deficiency False False False -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency False False False -Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection False False False -Orphanet:43116 Serotonin syndrome False False False -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection False False False -Orphanet:43117 Acute tricyclic antidepressant poisoning False False False -Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect False False False -Orphanet:431255 Scapuloperoneal spinal muscular atrophy False False False -Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies False False False -Orphanet:431272 X-linked scapuloperoneal muscular dystrophy False False False -Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder False False False -Orphanet:431329 Autosomal recessive spastic paraplegia type 57 False False False -Orphanet:431341 Patent urachus False False False -Orphanet:431344 Urachal sinus False False False -Orphanet:431347 Urachal diverticulum False False False -Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis False False False -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency False False False -Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism False False False -Orphanet:43393 Lambert-Eaton myasthenic syndrome False False False -Orphanet:434179 Orofaciodigital syndrome type 14 False False False -Orphanet:434786 Rare genetic autonomic nervous system disorder False False False -Orphanet:434809 Syndrome with woolly hair False False False -Orphanet:435329 Familial ossifying fibroma False False False -Orphanet:435372 Anterior urethral valve False False False -Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y False False False -Orphanet:435438 Progressive myoclonic epilepsy type 7 False False False -Orphanet:435554 Genetic precocious puberty False False False -Orphanet:435561 Rare precocious puberty in female False False False -Orphanet:435564 Genetic precocious puberty in female False False False -Orphanet:435603 Genetic otorhinolaryngological malformation False False False -Orphanet:435606 Genetic nose and cavum anomaly False False False -Orphanet:435609 Genetic larynx anomaly False False False -Orphanet:435612 Genetic tracheal anomaly False False False -Orphanet:435628 Keppen-Lubinsky syndrome False False False -Orphanet:435638 3p25.3 microdeletion syndrome False False False -Orphanet:435651 CIDEC-related familial partial lipodystrophy False False False -Orphanet:435660 LIPE-related familial partial lipodystrophy False False False -Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome False False False -Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation False False False -Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome False False False -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome False False False -Orphanet:435934 COG2-CDG False False False -Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome False False False -Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome False False False -Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome False False False -Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D False False False -Orphanet:436 Hypophosphatasia False False False -Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome False False False -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome False False False -Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome False False False -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome False False False -Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency False False False -Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome False False False -Orphanet:436169 Thrombomodulin-related bleeding disorder False False False -Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome False False False -Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome False False False -Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease False False False -Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome False False False -Orphanet:436252 Combined immunodeficiency-enteropathy spectrum False False False -Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy False False False -Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa False False False -Orphanet:437 Hypophosphatemic rickets False False False -Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity False False False -Orphanet:438072 Disorder of keton body transport False False False -Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency False False False -Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy False False False -Orphanet:438117 Steel syndrome False False False -Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome False False False -Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease False False False -Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency False False False -Orphanet:438207 Severe autosomal recessive macrothrombocytopenia False False False -Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome False False False -Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation False False False -Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus False False False -Orphanet:438274 GCGR-related hyperglucagonemia False False False -Orphanet:438279 Human infection by orthopoxvirus False False False -Orphanet:439 Isolated right ventricular hypoplasia False False False -Orphanet:439167 Placental insufficiency False False False -Orphanet:439175 Pediatric arterial ischemic stroke False False False -Orphanet:439196 Zinc-responsive necrolytic acral erythema False False False -Orphanet:439202 Non-recovering obstetric brachial plexus lesion False False False -Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome False False False -Orphanet:439218 KCNQ2-related epileptic encephalopathy False False False -Orphanet:439224 ALECT2 amyloidosis False False False -Orphanet:439232 AApoAIV amyloidosis False False False -Orphanet:439254 ITM2B amyloidosis False False False -Orphanet:439729 Cutaneous polyarteritis nodosa False False False -Orphanet:439737 Primary polyarteritis nodosa False False False -Orphanet:439746 Secondary polyarteritis nodosa False False False -Orphanet:439755 Single-organ polyarteritis nodosa False False False -Orphanet:439762 Systemic polyarteritis nodosa False False False -Orphanet:439822 PDE4D haploinsufficiency syndrome False False False -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease False False False -Orphanet:439881 Plastic bronchitis False False False -Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome False False False -Orphanet:44 Neonatal adrenoleukodystrophy False False False -Orphanet:440221 Congenital oculomotor nerve palsy False False False -Orphanet:440233 Congenital abducens nerve palsy False False False -Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome False False False -Orphanet:440368 Necrotizing soft tissue infection False False False -Orphanet:440392 Interstitial lung disease due to SP-C deficiency False False False -Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency False False False -Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency False False False -Orphanet:440437 Familial colorectal cancer Type X False False False -Orphanet:440701 Disorders of pentose/polyol metabolism False False False -Orphanet:440706 Ribose-5-P isomerase deficiency False False False -Orphanet:440713 Isolated sedoheptulokinase deficiency False False False -Orphanet:440724 Extensive peripapillary myelinated nerve fibers False False False -Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium False False False -Orphanet:440731 L-ferritin deficiency False False False -Orphanet:440987 Isolated agenesis of gallbladder False False False -Orphanet:441 Pure autonomic failure False False False -Orphanet:441434 Syndromic hereditary optic neuropathy False False False -Orphanet:441447 Early-onset posterior subcapsular cataract False False False -Orphanet:441452 Early-onset lamellar cataract False False False -Orphanet:442 Congenital hypothyroidism False False False -Orphanet:442582 AH amyloidosis False False False -Orphanet:442835 Non-specific early-onset epileptic encephalopathy False False False -Orphanet:443057 Sporadic porphyria cutanea tarda False False False -Orphanet:443062 Familial porphyria cutanea tarda False False False -Orphanet:443070 Hemicrania continua False False False -Orphanet:443073 Charcot-Marie-Tooth disease type 2S False False False -Orphanet:443079 Central serous chorioretinopathy False False False -Orphanet:443084 Baroreflex failure False False False -Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency False False False -Orphanet:443095 Hyperinsulinemic hypoglycaemia False False False -Orphanet:443098 Hyperostosis cranialis interna False False False -Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome False False False -Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production False False False -Orphanet:443162 NDE1-related microhydranencephaly False False False -Orphanet:443167 NUT midline carcinoma False False False -Orphanet:443173 Postpartum psychosis False False False -Orphanet:443180 Spontaneous intracranial hypotension False False False -Orphanet:443192 Classic stiff person syndrome False False False -Orphanet:443197 X-linked erythropoietic protoporphyria False False False -Orphanet:443227 Paratyphoid fever False False False -Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency False False False -Orphanet:443291 HIV-associated cancer False False False -Orphanet:443804 Focal stiff limb syndrome False False False -Orphanet:443811 PGM3-CDG False False False -Orphanet:443909 Hereditary nonpolyposis colon cancer False False False -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 False False False -Orphanet:443988 Ventriculomegaly-cystic kidney disease False False False -Orphanet:443995 Mandibulofacial dysostosis with alopecia False False False -Orphanet:444 Marie Unna hereditary hypotrichosis False False False -Orphanet:444002 11q22.2q22.3 microdeletion syndrome False False False -Orphanet:444013 Combined oxidative phosphorylation defect type 23 False False False -Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome False False False -Orphanet:444051 20q11.2 microdeletion syndrome False False False -Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome False False False -Orphanet:444072 Cerebellar-facial-dental syndrome False False False -Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome False False False -Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome False False False -Orphanet:444099 Autosomal dominant spastic paraplegia type 73 False False False -Orphanet:444116 Hereditary amyloidosis False False False -Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome False False False -Orphanet:444316 Idiopathic phalangeal acro-osteolysis False False False -Orphanet:444458 Combined oxidative phosphorylation defect type 24 False False False -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome False False False -Orphanet:444490 Familial chylomicronemia syndrome False False False -Orphanet:444916 Pseudohypoaldosteronism False False False -Orphanet:445018 Combined immunodeficiency due to LRBA deficiency False False False -Orphanet:445038 3-methylglutaconic aciduria type 7 False False False -Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome False False False -Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency False False False -Orphanet:445197 Secondary vasculitis False False False -Orphanet:446 Neonatal hemochromatosis False False False -Orphanet:447 Paroxysmal nocturnal hemoglobinuria False False False -Orphanet:447731 NIK deficiency False False False -Orphanet:447737 DOCK2 deficiency False False False -Orphanet:447740 Susceptibility to localized juvenile periodontitis False False False -Orphanet:447753 Autosomal dominant spastic paraplegia type 9A False False False -Orphanet:447757 Autosomal dominant spastic paraplegia type 9B False False False -Orphanet:447760 Autosomal recessive spastic paraplegia type 9B False False False -Orphanet:447764 IgG4-related sclerosing cholangitis False False False -Orphanet:447774 Secondary sclerosing cholangitis False False False -Orphanet:447777 Keratocystic odontogenic tumor False False False -Orphanet:447784 Mitochondrial pyruvate carrier deficiency False False False -Orphanet:447788 Cerebral visual impairment False False False -Orphanet:447795 Lipoyl transferase 2 deficiency False False False -Orphanet:447874 Biological anomaly without phenotypic characterization False False False -Orphanet:447877 Polymerase proofreading-related adenomatous polyposis False False False -Orphanet:447881 Idiopathic dropped head syndrome False False False -Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome False False False -Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome False False False -Orphanet:447954 Combined oxidative phosphorylation defect type 25 False False False -Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome False False False -Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V False False False -Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome False False False -Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy False False False -Orphanet:447980 19p13.3 microduplication syndrome False False False -Orphanet:447985 Partial duplication of the short arm of chromosome 19 False False False -Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome False False False -Orphanet:448 Hemophilia False False False -Orphanet:448010 CAD-CDG False False False -Orphanet:448237 Zika virus disease False False False -Orphanet:448242 Autosomal recessive brachyolmia False False False -Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome False False False -Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma False False False -Orphanet:448267 Regressive spondylometaphyseal dysplasia False False False -Orphanet:448270 Ectopia cordis False False False -Orphanet:448426 Genetic primary orthostatic hypotension False False False -Orphanet:44890 Gastrointestinal stromal tumor False False False -Orphanet:449 Hepatoblastoma False False False -Orphanet:449266 Pleural empyema False False False -Orphanet:449280 Scedosporiosis False False False -Orphanet:449285 Snakebite envenomation False False False -Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers False False False -Orphanet:449395 IgG4-related kidney disease False False False -Orphanet:449400 IgG4-related aortitis False False False -Orphanet:449427 IgG4-related pachymeningitis False False False -Orphanet:449432 IgG4-related submandibular gland disease False False False -Orphanet:449563 IgG4-related ophthalmic disease False False False -Orphanet:449566 Eosinophilic angiocentric fibrosis False False False -Orphanet:45 Adenosine monophosphate deaminase deficiency False False False -Orphanet:450 Heterotaxia False False False -Orphanet:450322 Polyclonal hyperviscosity syndrome False False False -Orphanet:451602 Primary cutaneous plasmacytosis False False False -Orphanet:451607 Cutaneous pseudolymphoma False False False -Orphanet:451612 Familial congenital nasolacrimal duct obstruction False False False -Orphanet:452 X-linked lissencephaly with abnormal genitalia False False False -Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome False False False -Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation False False False -Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability False False False -Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency False False False -Orphanet:453533 Polyendocrine-polyneuropathy syndrome False False False -Orphanet:45358 Congenital fibrosis of extraocular muscles False False False -Orphanet:454 Acquired ichthyosis False False False -Orphanet:45448 Miyoshi myopathy False False False -Orphanet:45452 Idiopathic neonatal atrial flutter False False False -Orphanet:45453 Incessant infant ventricular tachycardia False False False -Orphanet:454700 Acquired Creutzfeldt-Jakob disease False False False -Orphanet:454706 Progressive muscular atrophy False False False -Orphanet:454710 Anti-p200 pemphigoid False False False -Orphanet:454714 Plasma cell leukemia False False False -Orphanet:454718 Holmes-Adie syndrome False False False -Orphanet:454723 Endometrioid carcinoma of ovary False False False -Orphanet:454742 Variably protease-sensitive prionopathy False False False -Orphanet:454745 Kuru False False False -Orphanet:454750 Isolated tracheoesophageal fistula False False False -Orphanet:454821 Pleomorphic salivary gland adenoma False False False -Orphanet:454831 Acute radiation syndrome False False False -Orphanet:454836 Avian influenza False False False -Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis False False False -Orphanet:454887 Corticobasal syndrome False False False -Orphanet:455 Superficial epidermolytic ichthyosis False False False -Orphanet:456298 1p35.2 microdeletion syndrome False False False -Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease False False False -Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome False False False -Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome False False False -Orphanet:456333 Hereditary neuroendocrine tumor of small intestine False False False -Orphanet:456369 Polyglucosan body myopathy type 2 False False False -Orphanet:457 Harlequin ichthyosis False False False -Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance False False False -Orphanet:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy False False False -Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy False False False -Orphanet:457074 Congenital nemaline myopathy False False False -Orphanet:457077 TAFRO syndrome False False False -Orphanet:457083 Isolated splenogonadal fusion False False False -Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency False False False -Orphanet:457095 Actinomycosis False False False -Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome False False False -Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome False False False -Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome False False False -Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome False False False -Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect False False False -Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome False False False -Orphanet:457246 Clear cell sarcoma of kidney False False False -Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome False False False -Orphanet:457265 Progressive myoclonic epilepsy type 9 False False False -Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome False False False -Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome False False False -Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome False False False -Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome False False False -Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome False False False -Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement False False False -Orphanet:457378 Complex lethal osteochondrodysplasia False False False -Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome False False False -Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 False False False -Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome False False False -Orphanet:458718 Idiopathic spontaneous coronary artery dissection False False False -Orphanet:458758 Composite hemangioendothelioma False False False -Orphanet:458763 Retiform hemangioendothelioma False False False -Orphanet:458768 Primary intralymphatic angioendothelioma False False False -Orphanet:458775 Congenital hemangioma False False False -Orphanet:458785 Partially involuting congenital hemangioma False False False -Orphanet:458792 Mixed cystic lymphatic malformation False False False -Orphanet:458798 Spinocerebellar ataxia type 41 False False False -Orphanet:458803 Spinocerebellar ataxia type 42 False False False -Orphanet:458827 Vascular tumor with associated anomalies False False False -Orphanet:458830 Rare capillary malformation with associated anomalies False False False -Orphanet:458833 Common cystic lymphatic malformation False False False -Orphanet:458837 Rare combined vascular malformation False False False -Orphanet:458844 Rare vascular malformation of major vessels False False False -Orphanet:459033 Ataxia-oculomotor apraxia type 4 False False False -Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type False False False -Orphanet:459056 Autosomal recessive spastic paraplegia type 75 False False False -Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome False False False -Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome False False False -Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome False False False -Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency False False False -Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency False False False -Orphanet:459526 Rare genetic capillary malformation False False False -Orphanet:459537 Genetic complex vascular malformation with associated anomalies False False False -Orphanet:459543 Rare genetic vascular tumor False False False -Orphanet:459548 Rare genetic venous malformation False False False -Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome False False False -Orphanet:46 Adenylosuccinate lyase deficiency False False False -Orphanet:46059 Lathosterolosis False False False -Orphanet:461 Recessive X-linked ichthyosis False False False -Orphanet:46135 Primary central nervous system lymphoma False False False -Orphanet:46348 Paroxysmal extreme pain disorder False False False -Orphanet:464 Incontinentia pigmenti False False False -Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome False False False -Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome False False False -Orphanet:464306 DYRK1A-related intellectual disability syndrome False False False -Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation False False False -Orphanet:464318 Verrucous hemangioma False False False -Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome False False False -Orphanet:464329 Kaposiform lymphangiomatosis False False False -Orphanet:464336 BENTA disease False False False -Orphanet:464343 Catastrophic antiphospholipid syndrome False False False -Orphanet:464359 Benign metanephric tumor False False False -Orphanet:464366 NEK9-related lethal skeletal dysplasia False False False -Orphanet:464370 Neonatal alloimmune neutropenia False False False -Orphanet:464440 Primary dystonia, DYT27 type False False False -Orphanet:464443 COG6-CGD False False False -Orphanet:464453 Acquired methemoglobinemia False False False -Orphanet:464458 Paracetamol poisoning False False False -Orphanet:464724 Fever-associated acute infantile liver failure syndrome False False False -Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome False False False -Orphanet:464756 Familial gastric type 1 neuroendocrine tumor False False False -Orphanet:464760 Familial cavitary optic disc anomaly False False False -Orphanet:464764 Immune-mediated acquired neuromuscular junction disease False False False -Orphanet:46484 Oligodendroglial tumor False False False -Orphanet:46485 Superficial pemphigus False False False -Orphanet:46486 Mucous membrane pemphigoid False False False -Orphanet:46487 Epidermolysis bullosa acquisita False False False -Orphanet:46488 Linear IgA dermatosis False False False -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency False False False -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome False False False -Orphanet:465508 Symptomatic form of HFE-related hemochromatosis False False False -Orphanet:465824 Fetal encasement syndrome False False False -Orphanet:466 Fatal familial insomnia False False False -Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency False False False -Orphanet:466066 Genetic hemoglobinopathy False False False -Orphanet:466084 Genetic otorhinolaryngologic disease False False False -Orphanet:46627 Char syndrome False False False -Orphanet:466650 Exercise-induced malignant hyperthermia False False False -Orphanet:466658 Rare disease with malignant hyperthermia False False False -Orphanet:466670 Cyanide poisoning False False False -Orphanet:466677 Scorpion envenomation False False False -Orphanet:466682 Euthyroid Graves orbitopathy False False False -Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome False False False -Orphanet:466695 Supratip dysplasia False False False -Orphanet:466703 TMEM199-CDG False False False -Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy False False False -Orphanet:466722 Autosomal recessive spastic paraplegia type 77 False False False -Orphanet:466729 Familial patent arterial duct False False False -Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z False False False -Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X False False False -Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect False False False -Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome False False False -Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome False False False -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect False False False -Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome False False False -Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome False False False -Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy False False False -Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome False False False -Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation False False False -Orphanet:466962 SMARCA4-deficient sarcoma of thorax False False False -Orphanet:467 Non-acquired combined pituitary hormone deficiency False False False -Orphanet:467166 Tubulinopathy-associated dysgyria False False False -Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome False False False -Orphanet:46724 Cerebral arteriovenous malformation False False False -Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome False False False -Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency False False False -Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis False False False -Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene False False False -Orphanet:468661 Autosomal recessive spastic paraplegia type 74 False False False -Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands False False False -Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome False False False -Orphanet:468678 White-Sutton syndrome False False False -Orphanet:468684 CCDC115-CDG False False False -Orphanet:468699 SLC39A8-CDG False False False -Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 False False False -Orphanet:468726 Severe primary trimethylaminuria False False False -Orphanet:469 Hereditary fructose intolerance False False False -Orphanet:47 X-linked agammaglobulinemia False False False -Orphanet:470 Lysinuric protein intolerance False False False -Orphanet:47044 Hereditary papillary renal cell carcinoma False False False -Orphanet:47045 Familial cold urticaria False False False -Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome False False False -Orphanet:47159 Proximal renal tubular acidosis False False False -Orphanet:472 Isosporiasis False False False -Orphanet:474 Jeune syndrome False False False -Orphanet:474347 Rare congenital anomaly of ventricular septum False False False -Orphanet:475 Joubert syndrome False False False -Orphanet:476084 BVES-related limb-girdle muscular dystrophy False False False -Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome False False False -Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome False False False -Orphanet:476102 Hereditary pediatric Behçet-like disease False False False -Orphanet:476109 Axonal hereditary motor and sensory neuropathy False False False -Orphanet:476113 Combined immunodeficiency due to TFRC deficiency False False False -Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy False False False -Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome False False False -Orphanet:47612 Felty syndrome False False False -Orphanet:476123 Intermediate Charcot-Marie-Tooth disease False False False -Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome False False False -Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 False False False -Orphanet:476403 Hypercontractile muscle stiffness syndrome False False False -Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome False False False -Orphanet:477 KID syndrome False False False -Orphanet:477647 Type 1 interferonopathy False False False -Orphanet:477650 Fibroblastic rheumatism False False False -Orphanet:477661 IL21-related infantile inflammatory bowel disease False False False -Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome False False False -Orphanet:477684 Combined oxidative phosphorylation defect type 26 False False False -Orphanet:477738 Pediatric multiple sclerosis False False False -Orphanet:477742 Nodular fasciitis False False False -Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy False False False -Orphanet:477754 Genetic cerebral small vessel disease False False False -Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease False False False -Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy False False False -Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy False False False -Orphanet:477768 Moyamoya angiopathy False False False -Orphanet:477771 Rare disorder with a moyamoya angiopathy False False False -Orphanet:477774 Combined oxidative phosphorylation defect type 27 False False False -Orphanet:477781 Primary condylar hyperplasia False False False -Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder False False False -Orphanet:477794 Syndromic constitutional thrombocytopenia False False False -Orphanet:477797 Isolated constitutional thrombocytopenia False False False -Orphanet:477805 Genetic cardiac malformation False False False -Orphanet:477808 Other genetic dermis disorder False False False -Orphanet:477811 Rare hypercholesterolemia False False False -Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome False False False -Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome False False False -Orphanet:477831 Kosaki overgrowth syndrome False False False -Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency False False False -Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome False False False -Orphanet:478 Kallmann syndrome False False False -Orphanet:478029 Combined oxidative phosphorylation defect type 29 False False False -Orphanet:478042 Combined oxidative phosphorylation defect type 30 False False False -Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome False False False -Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 False False False -Orphanet:48 Congenital bilateral absence of vas deferens False False False -Orphanet:480 Kearns-Sayre syndrome False False False -Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 False False False -Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 False False False -Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis False False False -Orphanet:480501 Choledochal cyst False False False -Orphanet:480506 Primary intrahepatic lithiasis False False False -Orphanet:480512 Idiopathic ductopenia False False False -Orphanet:480520 Caroli syndrome False False False -Orphanet:480524 Idiopathic peliosis hepatis False False False -Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome False False False -Orphanet:480531 Congenital portosystemic shunt False False False -Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis False False False -Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement False False False -Orphanet:480553 Aneurysmal bone cyst False False False -Orphanet:480556 Isolated neonatal sclerosing cholangitis False False False -Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 False False False -Orphanet:480701 Facial diplegia with paresthesias False False False -Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis False False False -Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome False False False -Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability False False False -Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome False False False -Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome False False False -Orphanet:481 Kennedy disease False False False -Orphanet:48104 Pyoderma gangrenosum False False False -Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy False False False -Orphanet:481508 Gastroenteric neuroendocrine neoplasm False False False -Orphanet:48162 Lewis-Sumner syndrome False False False -Orphanet:481662 Familial Chilblain lupus False False False -Orphanet:481665 USP18 deficiency False False False -Orphanet:481671 Type 1 interferonopathy of childhood False False False -Orphanet:481771 Genetic alopecia False False False -Orphanet:481986 Familial schizencephaly False False False -Orphanet:482 Kimura disease False False False -Orphanet:482072 HTRA1-related cerebral small vessel disease False False False -Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease False False False -Orphanet:482092 Rare idiopathic macular telangiectasia False False False -Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy False False False -Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome False False False -Orphanet:483 Congenital high-molecular-weight kininogen deficiency False False False -Orphanet:48372 Nodular regenerative hyperplasia of the liver False False False -Orphanet:48377 Subcorneal pustular dermatosis False False False -Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome False False False -Orphanet:48435 Postinfectious vasculitis False False False -Orphanet:48471 Lissencephaly False False False -Orphanet:485 Kniest dysplasia False False False -Orphanet:485275 Acquired schizencephaly False False False -Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome False False False -Orphanet:485358 Propylthiouracil embryofetopathy False False False -Orphanet:485382 Genetic premature ovarian failure False False False -Orphanet:485405 16p12.1p12.3 triplication syndrome False False False -Orphanet:485418 EMILIN-1-related connective tissue disease False False False -Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect False False False -Orphanet:485426 Isolated congenital hepatic fibrosis False False False -Orphanet:486 Autosomal dominant severe congenital neutropenia False False False -Orphanet:48652 Monosomy 22q13.3 False False False -Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures False False False -Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome False False False -Orphanet:48686 Primary effusion lymphoma False False False -Orphanet:487 Krabbe disease False False False -Orphanet:48736 Embryonal carcinoma of the central nervous system False False False -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome False False False -Orphanet:487809 Pediatric collagenous gastritis False False False -Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation False False False -Orphanet:487825 Pierpont syndrome False False False -Orphanet:488 Urachal cyst False False False -Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome False False False -Orphanet:48818 Aceruloplasminemia False False False -Orphanet:488191 Female infertility due to oocyte meiotic arrest False False False -Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome False False False -Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome False False False -Orphanet:488239 Acute macular neuroretinopathy False False False -Orphanet:488265 Osteofibrous dysplasia False False False -Orphanet:488280 14q32 duplication syndrome False False False -Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W False False False -Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 False False False -Orphanet:488437 SIX2-related frontonasal dysplasia False False False -Orphanet:488586 Congenital amyoplasia False False False -Orphanet:488594 Autosomal recessive spastic paraplegia type 76 False False False -Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome False False False -Orphanet:488618 Transketolase deficiency False False False -Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome False False False -Orphanet:488632 TBCK-related intellectual disability syndrome False False False -Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome False False False -Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder False False False -Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome False False False -Orphanet:488650 Distal myopathy, Tateyama type False False False -Orphanet:48918 Focal myositis False False False -Orphanet:49 Penile agenesis False False False -Orphanet:490 Omphalomesenteric cyst False False False -Orphanet:49041 IgG4-related retroperitoneal fibrosis False False False -Orphanet:49042 Dentinogenesis imperfecta False False False -Orphanet:492 Proliferating trichilemmal cyst False False False -Orphanet:493 Familial keratoacanthoma False False False -Orphanet:493342 Vibratory urticaria False False False -Orphanet:49382 Achromatopsia False False False -Orphanet:494 Keratoderma hereditarium mutilans False False False -Orphanet:494344 RERE-related neurodevelopmental syndrome False False False -Orphanet:494418 Vulvar carcinoma False False False -Orphanet:494421 Sacrococcygeal teratoma False False False -Orphanet:494424 Extracranial carotid artery aneurysm False False False -Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis False False False -Orphanet:494433 MIRAGE syndrome False False False -Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome False False False -Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome False False False -Orphanet:494448 Vulvar squamous cell carcinoma False False False -Orphanet:494451 Vulvar basal cell carcinoma False False False -Orphanet:494454 Vulvar adenocarcinoma False False False -Orphanet:494457 Rare hyperkinetic movement disorder False False False -Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement False False False -Orphanet:494541 Childhood-onset benign chorea with striatal involvement False False False -Orphanet:494547 Squamous cell carcinoma of the hypopharynx False False False -Orphanet:494550 Squamous cell carcinoma of the larynx False False False -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma False False False -Orphanet:495274 Charcot-Marie-Tooth disease type 2T False False False -Orphanet:49566 Acquired purpura fulminans False False False -Orphanet:495818 9q33.3q34.11 microdeletion syndrome False False False -Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy False False False -Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome False False False -Orphanet:495879 Congenital agenesis of the scrotum False False False -Orphanet:495930 Familial monosomy 7 syndrome False False False -Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome False False False -Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome False False False -Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome False False False -Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome False False False -Orphanet:496751 EVEN-plus syndrome False False False -Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome False False False -Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome False False False -Orphanet:496916 Rare genetic hyperkinetic movement disorder False False False -Orphanet:496924 Non-inflammatory vasculopathy False False False -Orphanet:497188 Diffuse intrinsic pontine glioma False False False -Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect False False False -Orphanet:497737 Epidermolytic nevus False False False -Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 False False False -Orphanet:497764 Spinocerebellar ataxia type 43 False False False -Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome False False False -Orphanet:498 Keratosis pilaris atrophicans False False False -Orphanet:49804 Lichen amyloidosis False False False -Orphanet:498228 Phyllodes tumor of the prostate False False False -Orphanet:498251 Menstrual cycle-dependent periodic fever False False False -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome False False False -Orphanet:498345 Biliary atresia and associated disorders False False False -Orphanet:498350 Syndromic biliary atresia False False False -Orphanet:498359 Aquagenic palmoplantar keratoderma False False False -Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy False False False -Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement False False False -Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations False False False -Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations False False False -Orphanet:498457 Longitudinal limb defect False False False -Orphanet:498461 Terminal transverse limb defect False False False -Orphanet:498464 Non-syndromic preaxial polydactyly False False False -Orphanet:498467 Non-syndromic postaxial polydactyly False False False -Orphanet:498470 Non-syndromic complex polydactyly False False False -Orphanet:498474 Hyaline fibromatosis syndrome False False False -Orphanet:498477 Ectrodactyly with and without other manifestations False False False -Orphanet:498481 LRP5-related primary osteoporosis False False False -Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome False False False -Orphanet:498488 Overgrowth syndrome with 2q37 translocation False False False -Orphanet:498491 Complete hemimelia False False False -Orphanet:498494 Mirror-image polydactyly False False False -Orphanet:498497 Short rib-polydactyly syndrome type 5 False False False -Orphanet:498602 Sugarman brachydactyly False False False -Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome False False False -Orphanet:499 Kerion celsi False False False -Orphanet:499009 Congenital syphilis False False False -Orphanet:499047 Autoimmune/inflammatory optic neuropathy False False False -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy False False False -Orphanet:499096 Isolated optic neuritis False False False -Orphanet:499103 Recurrent idiopathic neuroretinitis False False False -Orphanet:499107 Idiopathic optic perineuritis False False False -Orphanet:499182 Pilomatrix carcinoma False False False -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency False False False -Orphanet:50 Aicardi syndrome False False False -Orphanet:500 Noonan syndrome with multiple lentigines False False False -Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion False False False -Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome False False False -Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome False False False -Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome False False False -Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome False False False -Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome False False False -Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom False False False -Orphanet:500163 Witteveen-Kolk syndrome False False False -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation False False False -Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder False False False -Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome False False False -Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses False False False -Orphanet:500478 Squamous cell carcinoma of the oropharynx False False False -Orphanet:500481 Squamous cell carcinoma of salivary glands False False False -Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome False False False -Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract False False False -Orphanet:500548 Osteosclerotic metaphyseal dysplasia False False False -Orphanet:501 Lafora disease False False False -Orphanet:502 Trichorhinophalangeal syndrome type 2 False False False -Orphanet:502305 Cochleovestibular malformation False False False -Orphanet:502318 Cochlear nerve deficiency False False False -Orphanet:502363 Squamous cell carcinoma of the oral cavity False False False -Orphanet:502366 Squamous cell carcinoma of the lip False False False -Orphanet:502369 Squamous cell carcinoma of oral cavity and lip False False False -Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome False False False -Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome False False False -Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome False False False -Orphanet:502437 4q25 proximal deletion syndrome False False False -Orphanet:502444 Alkaline ceramidase 3 deficiency False False False -Orphanet:502499 Erythema multiforme major False False False -Orphanet:50251 Pleural mesothelioma False False False -Orphanet:503 Larsen syndrome False False False -Orphanet:504 Creeping myiasis False False False -Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome False False False -Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency False False False -Orphanet:504530 Combined immunodeficiency due to Moesin deficiency False False False -Orphanet:505 Graham Little-Piccardi-Lassueur syndrome False False False -Orphanet:505208 3-methylglutaconic aciduria type 8 False False False -Orphanet:505216 3-methylglutaconic aciduria type 9 False False False -Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency False False False -Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome False False False -Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome False False False -Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders False False False -Orphanet:505652 CDKL5-deficiency disorder False False False -Orphanet:506 Leigh syndrome False False False -Orphanet:506052 Neuroendocrine neoplasm of pancreas False False False -Orphanet:506060 Functioning neuroendocrine tumor of pancreas False False False -Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas False False False -Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas False False False -Orphanet:506098 Neuroendocrine carcinoma of pancreas False False False -Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas False False False -Orphanet:506136 Neuroendocrine neoplasm of esophagus False False False -Orphanet:506307 Stromme syndrome False False False -Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency False False False -Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction False False False -Orphanet:506358 Gabriele-de Vries syndrome False False False -Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome False False False -Orphanet:507 Leishmaniasis False False False -Orphanet:508 Leprechaunism False False False -Orphanet:50809 Talo-patello-scaphoid osteolysis False False False -Orphanet:508093 MEPAN syndrome False False False -Orphanet:50810 Microlissencephaly-micromelia syndrome False False False -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome False False False -Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies False False False -Orphanet:50814 Craniolenticulosutural dysplasia False False False -Orphanet:50815 Branchiogenic deafness syndrome False False False -Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome False False False -Orphanet:50839 Cat-scratch disease False False False -Orphanet:508410 Familial intestinal malrotation False False False -Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome False False False -Orphanet:508488 8q24.3 microdeletion syndrome False False False -Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome False False False -Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy False False False -Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome False False False -Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency False False False -Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy False False False -Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome False False False -Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome False False False -Orphanet:509 Leptospirosis False False False -Orphanet:50918 Kikuchi-Fujimoto disease False False False -Orphanet:50942 Striate palmoplantar keratoderma False False False -Orphanet:50943 Keratolytic winter erythema False False False -Orphanet:50944 Schöpf-Schulz-Passarge syndrome False False False -Orphanet:50945 Blomstrand lethal chondrodysplasia False False False -Orphanet:51 Aicardi-Goutières syndrome False False False -Orphanet:510 Lesch-Nyhan syndrome False False False -Orphanet:51083 Familial short QT syndrome False False False -Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval False False False -Orphanet:511 Maple syrup urine disease False False False -Orphanet:51188 Ethylmalonic encephalopathy False False False -Orphanet:512 Metachromatic leukodystrophy False False False -Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells False False False -Orphanet:51208 Formiminoglutamic aciduria False False False -Orphanet:512103 Autosomal recessive epidermolytic ichthyosis False False False -Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation False False False -Orphanet:513436 Autosomal recessive spastic paraplegia type 78 False False False -Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome False False False -Orphanet:514 Acute monoblastic/monocytic leukemia False False False -Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome False False False -Orphanet:514980 ATP13A2-related parkinsonism False False False -Orphanet:51577 Cobblestone lissencephaly False False False -Orphanet:51608 Generalized arterial calcification of infancy False False False -Orphanet:51636 WHIM syndrome False False False -Orphanet:517 Acute myelomonocytic leukemia False False False -Orphanet:518 Acute megakaryoblastic leukemia False False False -Orphanet:51890 Anterior cutaneous nerve entrapment syndrome False False False -Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system False False False -Orphanet:519270 Rare disorder with entropion False False False -Orphanet:519274 Syndromic lacrimal system disorder False False False -Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations False False False -Orphanet:519278 Infective keratitis False False False -Orphanet:519280 Rare conjunctivitis False False False +Orphanet:34145 Immunoglobulin A nephropathy False False False Orphanet:519288 Rare disorder with corneal involvement as a major feature False False False Orphanet:519290 Rare inflammatory/autoimmune corneal disorder False False False -Orphanet:519292 Syndromic ectopia lentis False False False -Orphanet:519294 Syndromic microspherophakia False False False Orphanet:519296 Rare disorder with pigmented sclera False False False -Orphanet:519300 Isolated chorioretinal dystrophy False False False -Orphanet:519302 Isolated macular dystrophy False False False -Orphanet:519304 Isolated vitreoretinopathy False False False Orphanet:519313 Rare macular disorder False False False Orphanet:519317 Rare retinal vasculopathy False False False Orphanet:519321 Syndromic chorioretinal dystrophy False False False -Orphanet:519325 Syndromic inherited retinal disorder False False False -Orphanet:519327 Syndromic vitreoretinopathy False False False -Orphanet:519331 Secondary early-onset glaucoma False False False -Orphanet:519333 Congenital optic disc excavation False False False Orphanet:519337 Disorder with optic nerve compression False False False -Orphanet:519339 Pseudopapilledema False False False -Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature False False False -Orphanet:519343 Rare ophthalmic disorder with cortical involvement False False False -Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement False False False Orphanet:519353 Rare trochlear nerve disorder False False False -Orphanet:519355 Rare ocular motility/alignment disorder False False False -Orphanet:519384 Congenital cystic eye False False False -Orphanet:519386 Isolated congenital entropion False False False -Orphanet:519388 Autosomal recessive anterior segment dysgenesis False False False -Orphanet:519390 Isolated blepharochalasis False False False -Orphanet:519392 Isolated iridoschisis False False False -Orphanet:519396 Isolated microspherophakia False False False -Orphanet:519398 Isolated foveal hypoplasia False False False -Orphanet:519400 Peripapillary staphyloma False False False -Orphanet:519402 Isolated megalopapilla False False False -Orphanet:519404 Optic disc pit False False False -Orphanet:519406 Thygeson superficial punctate keratitis False False False -Orphanet:519408 Mooren ulcer False False False -Orphanet:519410 Terrien marginal degeneration False False False -Orphanet:519930 Fungal keratitis False False False -Orphanet:52 Alagille syndrome False False False -Orphanet:520 Acute promyelocytic leukemia False False False -Orphanet:52022 Potocki-Shaffer syndrome False False False -Orphanet:52047 Braddock syndrome False False False -Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome False False False -Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome False False False -Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome False False False -Orphanet:520814 Rare disorder of the visual organs False False False -Orphanet:520817 Isolated inherited retinal disorder False False False -Orphanet:520820 Progressive external ophthalmoplegia False False False -Orphanet:521 Chronic myeloid leukemia False False False -Orphanet:521123 Radiation-induced plexopathy False False False -Orphanet:521127 Osteoradionecrosis of the mandible False False False -Orphanet:521132 Radiation-induced disorder False False False -Orphanet:521219 Mirizzi syndrome False False False -Orphanet:521232 Genetic primary orthostatic disorder False False False -Orphanet:521236 Primary orthostatic disorder False False False -Orphanet:521258 Xq25 microduplication syndrome False False False -Orphanet:521305 Proximal myopathy with focal depletion of mitochondria False False False -Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome False False False -Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome False False False -Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome False False False -Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect False False False -Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD False False False -Orphanet:521426 PLAA-associated neurodevelopmental disorder False False False -Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome False False False -Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome False False False -Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome False False False -Orphanet:521450 LAMA5-related multisystemic syndrome False False False -Orphanet:522037 Primary autoimmune enteropathy False False False -Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome False False False -Orphanet:522504 Rare genetic disorder of the visual organs False False False Orphanet:522506 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature False False False Orphanet:522508 Rare genetic ophthalmic disorder with cortical involvement False False False Orphanet:522510 Rare genetic ophthalmic disorder with cranial nerve involvement False False False @@ -6183,692 +40,24 @@ Orphanet:522564 Syndromic genetic keratoconus False False False Orphanet:522566 Rare genetic inflammatory/autoimmune corneal disorder False False False Orphanet:522574 Rare genetic macular disorder False False False Orphanet:522576 Rare genetic retinal vasculopathy False False False -Orphanet:522580 Secondary early-onset glaucoma of genetic origin False False False -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer False False False -Orphanet:52368 Mohr-Tranebjaerg syndrome False False False -Orphanet:524 Li-Fraumeni syndrome False False False -Orphanet:52416 Mantle cell lymphoma False False False -Orphanet:52417 MALT lymphoma False False False -Orphanet:52427 Retinitis punctata albescens False False False -Orphanet:52429 Branchiootic syndrome False False False -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia False False False -Orphanet:525 Lichen planopilaris False False False -Orphanet:52503 X-linked creatine transporter deficiency False False False -Orphanet:52530 Pseudo-von Willebrand disease False False False -Orphanet:525731 Pediatric-onset Graves disease False False False -Orphanet:525738 Prepubertal anorexia nervosa False False False -Orphanet:526 Liddle syndrome False False False -Orphanet:52662 Rare teratologic disease False False False -Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect False False False -Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome False False False -Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome False False False -Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy False False False -Orphanet:52759 Vasculitis False False False -Orphanet:528 Congenital generalized lipodystrophy False False False -Orphanet:528084 Non-specific syndromic intellectual disability False False False -Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome False False False -Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome False False False -Orphanet:528623 Hereditary angioedema with C1Inh deficiency False False False -Orphanet:528647 Hereditary angioedema with normal C1Inh False False False -Orphanet:528663 Acquired angioedema with C1Inh deficiency False False False -Orphanet:529 Roch-Leri mesosomatous lipomatosis False False False -Orphanet:52901 Isolated follicle stimulating hormone deficiency False False False -Orphanet:529468 Monoclonal mast cell activation syndrome False False False -Orphanet:529574 Duane retraction syndrome with congenital deafness False False False -Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome False False False -Orphanet:529799 Acute bilirubin encephalopathy False False False -Orphanet:529808 Chronic bilirubin encephalopathy False False False -Orphanet:529831 Letrozole toxicity False False False -Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma False False False -Orphanet:529864 Secondary erythromelalgia False False False -Orphanet:52994 Orbital leiomyoma False False False -Orphanet:529962 17q24.2 microdeletion syndrome False False False -Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome False False False -Orphanet:529970 Male infertility due to acephalic spermatozoa False False False -Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome False False False -Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome False False False -Orphanet:53 Albers-Schönberg osteopetrosis False False False -Orphanet:530 Lipoid proteinosis False False False -Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system False False False Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies False False False -Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies False False False -Orphanet:530313 PIK3CA-related overgrowth syndrome False False False -Orphanet:53035 Caroli disease False False False -Orphanet:530792 RELA fusion-positive ependymoma False False False -Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma False False False -Orphanet:530849 Familial apolipoprotein A5 deficiency False False False -Orphanet:530983 Lamb-Shaffer syndrome False False False -Orphanet:530995 Mixed phenotype acute leukemia False False False -Orphanet:531 Miller-Dieker syndrome False False False -Orphanet:531151 9q21.13 microdeletion syndrome False False False -Orphanet:53271 Muenke syndrome False False False -Orphanet:53296 Familial cutaneous collagenoma False False False -Orphanet:533 Listeriosis False False False -Orphanet:53347 Brody myopathy False False False -Orphanet:53351 X-linked dystonia-parkinsonism False False False -Orphanet:53372 Hereditary geniospasm False False False -Orphanet:534 Oculocerebrorenal syndrome of Lowe False False False -Orphanet:535 Rare cutaneous lupus erythematosus False False False -Orphanet:53540 Goldmann-Favre syndrome False False False -Orphanet:535453 Familial lipase maturation factor 1 deficiency False False False -Orphanet:535458 Familial GPIHBP1 deficiency False False False -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity False False False -Orphanet:536 Systemic lupus erythematosus False False False -Orphanet:536391 RASopathy False False False -Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome False False False -Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome False False False -Orphanet:536516 Myopathic Ehlers-Danlos syndrome False False False -Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 False False False -Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome False False False -Orphanet:53689 Congenital chloride diarrhea False False False -Orphanet:53690 Congenital lactase deficiency False False False -Orphanet:53691 Congenital cornea plana False False False -Orphanet:53693 GRACILE syndrome False False False -Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome False False False -Orphanet:53697 Gnathodiaphyseal dysplasia False False False -Orphanet:53698 Myosin storage myopathy False False False -Orphanet:537 Toxic epidermal necrolysis False False False -Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh False False False -Orphanet:53715 Familial tumoral calcinosis False False False -Orphanet:53719 Wyburn-Mason syndrome False False False -Orphanet:53721 Spinal arteriovenous metameric syndrome False False False -Orphanet:53739 Distal hereditary motor neuropathy False False False -Orphanet:538 Lymphangioleiomyomatosis False False False -Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy False False False -Orphanet:538101 Congenital axonal neuropathy with encephalopathy False False False -Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome False False False -Orphanet:538756 Familial multiple discoid fibromas False False False -Orphanet:538863 Classic pyoderma gangrenosum False False False -Orphanet:538866 Pustular pyoderma gangrenosum False False False -Orphanet:538869 Bullous pyoderma gangrenosum False False False -Orphanet:538872 Vegetative pyoderma gangrenosum False False False -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency False False False -Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency False False False -Orphanet:538958 Combined immunodeficiency due to CD70 deficiency False False False -Orphanet:538963 Combined immunodeficiency due to ITK deficiency False False False -Orphanet:54 X-linked recessive ocular albinism False False False -Orphanet:540 Familial hemophagocytic lymphohistiocytosis False False False -Orphanet:54028 Plummer-Vinson syndrome False False False -Orphanet:54057 Thrombotic thrombocytopenic purpura False False False -Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome False False False -Orphanet:541443 Anomalous aortic origin of the left coronary artery False False False -Orphanet:541454 Anomalous aortic origin of the right coronary artery False False False -Orphanet:541478 Anomalous aortic origin of coronary artery False False False -Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery False False False -Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency False False False -Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome False False False -Orphanet:542310 Leukoencephalopathy with calcifications and cysts False False False -Orphanet:54247 Posterior cortical atrophy False False False -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome False False False -Orphanet:542568 Quadricuspid aortic valve False False False -Orphanet:542585 Auditory neuropathy-optic atrophy syndrome False False False -Orphanet:542592 Necrobiosis lipoidica False False False -Orphanet:54260 Left ventricular noncompaction False False False -Orphanet:542643 Livedoid vasculopathy False False False -Orphanet:542657 Isolated hyperchlorhidrosis False False False -Orphanet:54272 Hepatocellular adenoma False False False -Orphanet:542822 Anomaly of the coronary ostia False False False -Orphanet:543 Burkitt lymphoma False False False -Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome False False False -Orphanet:54368 Sarcocystosis False False False -Orphanet:54370 Primary membranoproliferative glomerulonephritis False False False -Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy False False False -Orphanet:544469 PRUNE1-related neurological syndrome False False False -Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality False False False -Orphanet:544482 Infection-related hemolytic uremic syndrome False False False -Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome False False False -Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome False False False -Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy False False False -Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form False False False -Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers False False False -Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome False False False -Orphanet:545 Follicular lymphoma False False False -Orphanet:54595 Craniopharyngioma False False False -Orphanet:548 Leprosy False False False -Orphanet:549 Legionnaires disease False False False -Orphanet:55 Oculocutaneous albinism False False False -Orphanet:550 MELAS False False False -Orphanet:551 MERRF False False False -Orphanet:552 MODY False False False -Orphanet:555402 NAD(P)HX dehydratase deficiency False False False -Orphanet:555407 NAD(P)HX epimerase deficiency False False False -Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver False False False -Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver False False False -Orphanet:555874 Congenital tricuspid valve dysplasia False False False -Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia False False False -Orphanet:555905 IgA pemphigus False False False -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 False False False -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 False False False -Orphanet:556 Malakoplakia False False False -Orphanet:556030 Early-onset familial hypoaldosteronism False False False -Orphanet:556037 Late-onset familial hypoaldosteronism False False False -Orphanet:556508 Rare disorder due to poisoning False False False -Orphanet:55654 Hypotrichosis simplex False False False -Orphanet:55655 Pneumococcal meningitis False False False -Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome False False False -Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia False False False -Orphanet:557003 Oculoskeletodental syndrome False False False -Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency False False False -Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency False False False -Orphanet:557492 group of disorders False False False -Orphanet:557493 disorder False False False -Orphanet:557494 subtype of a disorder False False False -Orphanet:558 Marfan syndrome False False False -Orphanet:558411 Idiopathic gastroparesis False False False -Orphanet:55880 Chondrosarcoma False False False -Orphanet:55881 Adamantinoma False False False -Orphanet:559 Marinesco-Sjögren syndrome False False False -Orphanet:56 Alkaptonuria False False False -Orphanet:560 Marshall syndrome False False False -Orphanet:561 Marshall-Smith syndrome False False False -Orphanet:561854 FOXG1 syndrome False False False -Orphanet:562 McCune-Albright syndrome False False False -Orphanet:562509 Heme oxygenase-1 deficiency False False False -Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome False False False -Orphanet:562538 Autosomal recessive extra-oral halitosis False False False -Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome False False False -Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome False False False -Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome False False False -Orphanet:563 Peripartum cardiomyopathy False False False -Orphanet:56304 Atelosteogenesis type II False False False -Orphanet:56305 Atelosteogenesis type III False False False -Orphanet:563576 Autoimmune hepatitis type 1 False False False -Orphanet:563581 Autoimmune hepatitis type 2 False False False -Orphanet:563589 Seronegative autoimmune hepatitis False False False -Orphanet:563609 Isolated anencephaly False False False -Orphanet:563612 Isolated exencephaly False False False -Orphanet:563666 Serous cystadenoma of childhood False False False -Orphanet:563671 Mucinous cystadenoma of childhood False False False -Orphanet:563676 Seromucinous cystadenoma of childhood False False False -Orphanet:563684 Furuncular myiasis due to Dermatobia hominis False False False -Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga False False False -Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini False False False -Orphanet:563708 Syndromic congenital sodium diarrhea False False False -Orphanet:563951 Isolated congenital aglossia False False False -Orphanet:563954 Isolated congenital hypoglossia False False False -Orphanet:563991 Osteochondrosis of the tarsal bone False False False -Orphanet:564 Meckel syndrome False False False -Orphanet:564003 Osteochondrosis of the metatarsal bone False False False -Orphanet:56425 Cold agglutinin disease False False False -Orphanet:565 Menkes disease False False False -Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy False False False -Orphanet:565624 Combined oxidative phosphorylation defect type 39 False False False -Orphanet:565641 Primary desmosis coli False False False -Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation False False False -Orphanet:565782 Methotrexate toxicity False False False -Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement False False False -Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 False False False -Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome False False False -Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 False False False -Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 False False False -Orphanet:566 Congenital microcoria False False False -Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome False False False -Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome False False False -Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia False False False -Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha False False False -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta False False False -Orphanet:566393 Acute mast cell leukemia False False False -Orphanet:566396 Chronic mast cell leukemia False False False -Orphanet:566841 Liver adenomatosis False False False -Orphanet:566847 Aprosencephaly/atelencephaly spectrum False False False -Orphanet:566852 Atelencephaly False False False -Orphanet:566857 Aprosencephaly False False False -Orphanet:566862 Left sided atrial isomerism False False False -Orphanet:566943 Mueller-Weiss syndrome False False False -Orphanet:567 22q11.2 deletion syndrome False False False -Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome False False False -Orphanet:567544 Idiopathic non-lupus full-house nephropathy False False False -Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance False False False -Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome False False False -Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome False False False -Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy False False False -Orphanet:567983 Parenteral nutrition-associated cholestasis False False False -Orphanet:568 Microphthalmia, Lenz type False False False -Orphanet:568041 Primary lymphedema without systemic or visceral involvement False False False -Orphanet:568044 Primary lymphedema with systemic or visceral involvement False False False -Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema False False False -Orphanet:568051 GJC2-related late-onset primary lymphedema False False False -Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome False False False -Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis False False False -Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis False False False -Orphanet:569 Familial or sporadic hemiplegic migraine False False False -Orphanet:569164 Angiomatoid fibrous histiocytoma False False False -Orphanet:569248 Microcystic stromal tumor False False False -Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 False False False -Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 False False False -Orphanet:56970 Human prion disease False False False -Orphanet:569816 CELSR1-related late-onset primary lymphedema False False False -Orphanet:569821 Congenital primary lymphedema of Gordon False False False -Orphanet:57 Glycogen storage disease due to aldolase A deficiency False False False -Orphanet:570 Moebius syndrome False False False -Orphanet:570371 Bartter syndrome type 5 False False False -Orphanet:570422 Galactose mutarotase deficiency False False False -Orphanet:570431 Idiopathic multicentric Castleman disease False False False -Orphanet:570438 HHV-8-associated multicentric Castleman disease False False False -Orphanet:570470 Ricin poisoning False False False -Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect False False False -Orphanet:570762 Infective endocarditis False False False -Orphanet:57145 SUNCT syndrome False False False -Orphanet:57146 Rare hepatic disease False False False -Orphanet:57196 Medial condensing osteitis of the clavicle False False False -Orphanet:572 Immunodeficiency by defective expression of MHC class II False False False -Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome False False False -Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus False False False -Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 False False False -Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 False False False -Orphanet:572385 Brachydactyly type B1 False False False -Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia False False False -Orphanet:572543 RFVT2-related riboflavin transporter deficiency False False False -Orphanet:572550 RFVT3-related riboflavin transporter deficiency False False False -Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum False False False -Orphanet:572768 Microcephaly-micromelia syndrome False False False -Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome False False False -Orphanet:572798 WARS2-related combined oxidative phosphorylation defect False False False -Orphanet:573 Monilethrix False False False -Orphanet:573163 Pheochromocytoma-paraganglioma False False False -Orphanet:573253 Split cord malformation type II False False False -Orphanet:573278 Split cord malformation False False False -Orphanet:574 21q deletion syndrome False False False -Orphanet:574637 Prediction of ivermectin toxicity False False False -Orphanet:574671 Prediction of toxicity or dose selection of belinostat False False False -Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency False False False -Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency False False False -Orphanet:575 Muckle-Wells syndrome False False False -Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy False False False -Orphanet:576 Mucolipidosis type II False False False -Orphanet:576074 Middle East respiratory syndrome False False False -Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia False False False -Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia False False False -Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia False False False -Orphanet:576242 Intermediate atrioventricular septal defect False False False -Orphanet:576278 SATB2-associated syndrome False False False -Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant False False False -Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome False False False -Orphanet:576356 Sporadic human prion disease False False False -Orphanet:576360 Acquired human prion disease False False False -Orphanet:576370 Variant Creutzfeldt-Jakob disease False False False -Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease False False False -Orphanet:576742 Genetic hemolytic uremic syndrome False False False -Orphanet:577 Mucolipidosis type III False False False -Orphanet:57777 Cirrhotic cardiomyopathy False False False -Orphanet:57782 Mazabraud syndrome False False False -Orphanet:578 Mucolipidosis type IV False False False -Orphanet:579 Mucopolysaccharidosis type 1 False False False -Orphanet:58 Alexander disease False False False -Orphanet:580 Mucopolysaccharidosis type 2 False False False -Orphanet:58017 Classic hairy cell leukemia False False False -Orphanet:58040 Osteoblastoma False False False -Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas False False False -Orphanet:580933 Lethal brain and heart developmental defects False False False -Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome False False False -Orphanet:580951 Punctate inner choroidopathy False False False -Orphanet:581 Mucopolysaccharidosis type 3 False False False -Orphanet:581271 Cramp-fasciculation syndrome False False False -Orphanet:582 Mucopolysaccharidosis type 4 False False False -Orphanet:583 Mucopolysaccharidosis type 6 False False False -Orphanet:583097 Congenital infiltrating lipomatosis of the face False False False -Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form False False False -Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency False False False -Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency False False False -Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency False False False -Orphanet:583856 Isolated splenic vein thrombosis False False False -Orphanet:583861 Isolated mesenteric vein thrombosis False False False -Orphanet:584 Mucopolysaccharidosis type 7 False False False -Orphanet:585 Multiple sulfatase deficiency False False False -Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) False False False -Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality False False False -Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) False False False -Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) False False False -Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) False False False -Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy False False False -Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy False False False -Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) False False False -Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) False False False -Orphanet:586 Cystic fibrosis False False False -Orphanet:586130 Sporadic fatal insomnia False False False -Orphanet:587 Muir-Torre syndrome False False False -Orphanet:588 Muscle-eye-brain disease False False False -Orphanet:589 Myasthenia gravis False False False -Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome False False False -Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome False False False -Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome False False False -Orphanet:589522 Spinocerebellar ataxia type 46 False False False -Orphanet:589527 Spinocerebellar ataxia type 45 False False False -Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) False False False -Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement False False False -Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder False False False -Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) False False False -Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies False False False -Orphanet:589618 Dystonia 28 False False False -Orphanet:589746 Inherited gynecological cancer-predisposing syndrome False False False -Orphanet:589821 Congenital-onset Steinert myotonic dystrophy False False False -Orphanet:589824 Childhood-onset Steinert myotonic dystrophy False False False -Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy False False False -Orphanet:589830 Adult-onset Steinert myotonic dystrophy False False False -Orphanet:589833 Late-onset Steinert myotonic dystrophy False False False -Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome False False False -Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome False False False -Orphanet:59 Allan-Herndon-Dudley syndrome False False False -Orphanet:590 Congenital myasthenic syndrome False False False -Orphanet:590539 Isolated melanotic schwannoma False False False -Orphanet:591 Furuncular myiasis False False False -Orphanet:59135 Laing early-onset distal myopathy False False False -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy False False False -Orphanet:592 Macrophagic myofasciitis False False False -Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum False False False -Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome False False False -Orphanet:592574 Menke-Hennekam syndrome False False False -Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies False False False -Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies False False False -Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies False False False -Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies False False False -Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies False False False -Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies False False False -Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies False False False -Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies False False False -Orphanet:59298 Schilder disease False False False -Orphanet:593 Myofibrillar myopathy False False False -Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome False False False -Orphanet:59305 Gestational trophoblastic neoplasm False False False -Orphanet:59306 McLeod neuroacanthocytosis syndrome False False False -Orphanet:59315 Rhombencephalosynapsis False False False -Orphanet:595 Centronuclear myopathy False False False -Orphanet:595098 Timothy syndrome type 1 False False False -Orphanet:595105 Timothy syndrome type 2 False False False -Orphanet:595109 Atypical Timothy syndrome False False False -Orphanet:595133 Perivascular epithelioid cell neoplasm False False False -Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome False False False -Orphanet:595337 Adrenal hypoplasia congenita False False False -Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement False False False -Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement False False False -Orphanet:595356 Localized dystrophic epidermolysis bullosa False False False -Orphanet:596 X-linked centronuclear myopathy False False False -Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis False False False -Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone False False False -Orphanet:596448 IgG4-related systemic disease False False False -Orphanet:596744 Prediction of dolutegravir toxicity False False False -Orphanet:596753 VEXAS syndrome False False False -Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency False False False -Orphanet:596937 Portosinusoidal vascular disease False False False -Orphanet:596941 Incomplete septal cirrhosis False False False -Orphanet:597 Central core disease False False False -Orphanet:597201 TRIM22-related inflammatory bowel disease False False False -Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome False False False -Orphanet:597733 Oculocutaneous albinism type 8 False False False -Orphanet:597738 Luscan-Lumish syndrome False False False -Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome False False False -Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome False False False -Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome False False False -Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome False False False -Orphanet:597887 ALPI-related inflammatory bowel disease False False False -Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia False False False -Orphanet:598 Multiminicore myopathy False False False -Orphanet:598164 FOXG1 syndrome due to intragenic alteration False False False -Orphanet:598216 Upper tract urothelial carcinoma False False False -Orphanet:598363 Multisystem inflammatory syndrome in children and adults False False False -Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome False False False -Orphanet:599 Distal myopathy False False False -Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome False False False -Orphanet:599373 STXBP1-related encephalopathy False False False -Orphanet:599376 Hypomyelination of early myelinating structures False False False -Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant False False False -Orphanet:599480 Acquired hemophilia A False False False -Orphanet:599485 Acquired hemophilia B False False False -Orphanet:599490 Acquired factor V deficiency False False False -Orphanet:599495 Acquired factor VII deficiency False False False -Orphanet:599501 Acquired factor X deficiency False False False -Orphanet:599507 Acquired factor XI deficiency False False False -Orphanet:599513 Acquired factor XIII deficiency False False False -Orphanet:599519 Factor V short isoforms-related bleeding disorder False False False -Orphanet:599579 Factor V Amsterdam bleeding disorder False False False -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency False False False -Orphanet:60 Alpha-1-antitrypsin deficiency False False False -Orphanet:600 Vocal cord and pharyngeal distal myopathy False False False -Orphanet:60014 Argyria False False False -Orphanet:60015 Enlarged parietal foramina False False False -Orphanet:600194 Factor V Atlanta bleeding disorder False False False -Orphanet:60025 Pulmonary alveolar microlithiasis False False False -Orphanet:60026 Pulmonary nodular lymphoid hyperplasia False False False -Orphanet:60030 Loeys-Dietz syndrome False False False -Orphanet:60032 Recurrent respiratory papillomatosis False False False -Orphanet:60033 Idiopathic bronchiectasis False False False -Orphanet:60039 Pudendal neuralgia False False False -Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome False False False -Orphanet:60041 Congenital heart block False False False -Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance False False False -Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome False False False -Orphanet:600691 Combined deficiency of factor VII and factor X False False False -Orphanet:600731 Clark-Baraitser syndrome False False False -Orphanet:600832 Legionellosis False False False -Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula False False False -Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula False False False -Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type False False False -Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type False False False -Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula False False False -Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula False False False -Orphanet:600998 Non-syndromic cloacal malformation False False False -Orphanet:601002 Non-syndromic anorectal malformation without fistula False False False -Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis False False False -Orphanet:601013 Non-syndromic anorectal malformation with pouch colon False False False -Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia False False False -Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis False False False -Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula False False False -Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula False False False -Orphanet:602 GNE myopathy False False False -Orphanet:603 Distal myopathy, Welander type False False False -Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome False False False -Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome False False False -Orphanet:603515 Isolated female hypospadias False False False -Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome False False False -Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome False False False -Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome False False False -Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers False False False -Orphanet:606 Proximal myotonic myopathy False False False -Orphanet:607 Nemaline myopathy False False False -Orphanet:609 Tibial muscular dystrophy False False False -Orphanet:61 Alpha-mannosidosis False False False -Orphanet:610 Bethlem myopathy False False False -Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome False False False -Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome False False False -Orphanet:611 Inclusion body myositis False False False -Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome False False False -Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome False False False -Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome False False False -Orphanet:611223 EN1-related dorsoventral syndrome False False False -Orphanet:611237 Parkinsonism with polyneuropathy False False False -Orphanet:611247 Pontocerebellar hypoplasia type 11 False False False -Orphanet:611256 Pontocerebellar hypoplasia type 12 False False False -Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome False False False -Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability False False False -Orphanet:612 Potassium-aggravated myotonia False False False -Orphanet:613267 Pontocerebellar hypoplasia type 13 False False False -Orphanet:613274 Pontocerebellar hypoplasia type 14 False False False -Orphanet:614 Thomsen and Becker disease False False False -Orphanet:615 Familial atrial myxoma False False False -Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome False False False -Orphanet:615943 Granuloma faciale False False False -Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome False False False -Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate False False False -Orphanet:615970 Chronic intervillositis of unknown etiology False False False -Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation False False False -Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster False False False -Orphanet:616 Medulloblastoma False False False -Orphanet:617 Congenital primary megaureter False False False -Orphanet:617294 Twin anemia-polycythemia sequence False False False -Orphanet:617297 Twin-reversed arterial perfusion sequence False False False -Orphanet:617301 Selective intrauterine growth restriction False False False -Orphanet:617304 Amniotic fluid embolism False False False Orphanet:617310 Rare disorder due to unbalanced inter-twin blood transfusion False False False Orphanet:617313 Rare disorder due to inadequate sharing of the placenta False False False -Orphanet:617408 Classic eosinophilic pustular folliculitis False False False -Orphanet:617440 Painful legs and moving toes syndrome False False False -Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome False False False -Orphanet:617910 Conjunctival malignant melanoma False False False -Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia False False False -Orphanet:617919 F12-associated cold autoinflammatory syndrome False False False -Orphanet:617930 Hemophilia B Leyden False False False -Orphanet:618 Familial melanoma False False False -Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency False False False -Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome False False False Orphanet:619238 Rare hereditary autoinflammatory disease False False False -Orphanet:619284 Narcolepsy False False False -Orphanet:619340 Inherited hematologic cancer-predisposing syndrome False False False -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 False False False -Orphanet:619367 SAMD9L-associated autoinflammatory syndrome False False False -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration False False False -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome False False False -Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency False False False -Orphanet:619972 CADINS disease False False False -Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome False False False -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 False False False -Orphanet:620096 Non-syndromic unisutural craniosynostosis False False False -Orphanet:620102 Non-syndromic unicoronal craniosynostosis False False False -Orphanet:620113 Non-syndromic unilambdoid craniosynostosis False False False -Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis False False False -Orphanet:620146 Non-syndromic unisquamosal craniosynostosis False False False -Orphanet:620152 Non-syndromic multisutural craniosynostosis False False False -Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis False False False -Orphanet:620178 Non-syndromic bilambdoid craniosynostosis False False False -Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis False False False -Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis False False False -Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis False False False -Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis False False False -Orphanet:620212 Non-syndromic pansynostosis False False False -Orphanet:620217 Bartter syndrome type 1 False False False -Orphanet:620220 Bartter syndrome type 2 False False False -Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome False False False -Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability False False False -Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation False False False -Orphanet:621 Hereditary methemoglobinemia False False False -Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome False False False -Orphanet:622 Homocystinuria without methylmalonic aciduria False False False -Orphanet:622014 Autoimmune encephalitis False False False -Orphanet:622099 Superior mesenteric artery syndrome False False False -Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection False False False -Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia False False False -Orphanet:623615 Autoimmune limbic encephalitis False False False -Orphanet:623626 Paraneoplastic cerebellar degeneration False False False -Orphanet:623638 Immune-mediated cerebellar ataxia False False False -Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia False False False -Orphanet:623789 Body integrity dysphoria False False False -Orphanet:623801 Acute flaccid myelitis False False False -Orphanet:624 Familial multiple nevi flammei False False False -Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies False False False -Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies False False False -Orphanet:624190 Paraneoplastic isolated brainstem encephalitis False False False -Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies False False False -Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies False False False -Orphanet:624244 Postinfectious cerebellitis False False False -Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies False False False -Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies False False False -Orphanet:626 Large congenital melanocytic nevus False False False -Orphanet:627 Nance-Horan syndrome False False False -Orphanet:628 Diastrophic dysplasia False False False -Orphanet:629 Short stature due to growth hormone qualitative anomaly False False False -Orphanet:63 Alport syndrome False False False -Orphanet:631 Non-acquired isolated growth hormone deficiency False False False -Orphanet:631068 Autosomal dominant spastic paraplegia type 80 False False False -Orphanet:631073 Autosomal recessive spastic paraplegia type 82 False False False -Orphanet:631076 Autosomal recessive spastic paraplegia type 83 False False False -Orphanet:631079 Autosomal recessive spastic paraplegia type 84 False False False -Orphanet:631082 Autosomal recessive spastic paraplegia type 85 False False False -Orphanet:631085 Autosomal recessive spastic paraplegia type 86 False False False -Orphanet:631088 Autosomal recessive spastic paraplegia type 87 False False False -Orphanet:631095 Spinocerebellar ataxia type 44 False False False -Orphanet:631103 Spinocerebellar ataxia type 48 False False False -Orphanet:631106 Spinocerebellar ataxia type 49 False False False -Orphanet:631248 Mitchell Syndrome False False False -Orphanet:631251 Cancer of unknown primary site False False False -Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia False False False -Orphanet:63259 Iniencephaly False False False -Orphanet:63260 Craniorachischisis False False False -Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome False False False -Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis False False False -Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement False False False -Orphanet:63275 Pemphigoid gestationis False False False -Orphanet:633 Laron syndrome False False False -Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome False False False -Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome False False False -Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome False False False -Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome False False False -Orphanet:633028 CPE-related Prader-Willi-like syndrome False False False -Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome False False False -Orphanet:633099 PAICS deficiency False False False -Orphanet:633124 Invasive scopulariopsis infection False False False -Orphanet:633211 Preaxial digit brachydactyly-webbed fingers False False False -Orphanet:633228 Proximal femoral focal deficiency False False False -Orphanet:634 Netherton syndrome False False False -Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia False False False -Orphanet:63443 Rare epithelial tumor of stomach False False False -Orphanet:63446 Acrocapitofemoral dysplasia False False False -Orphanet:634461 Mosaic neurofibromatosis type 1 False False False -Orphanet:634475 Mosaic NF2-related schwannomatosis False False False -Orphanet:634492 Mosaic schwannomatosis False False False -Orphanet:634511 Mosaic Legius syndrome False False False -Orphanet:634518 Neurofibromatosis/schwannomatosis False False False -Orphanet:63454 Pattern dystrophy False False False -Orphanet:63455 Paraneoplastic pemphigus False False False -Orphanet:635 Neuroblastoma False False False -Orphanet:636 Neurofibromatosis type 1 False False False -Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome False False False -Orphanet:636945 Invasive Candidiasis False False False -Orphanet:636950 Glaucomatocyclitic crisis disease False False False -Orphanet:636955 Endemic pemphigus foliaceus False False False -Orphanet:636965 Autosomal dominant myosin storage myopathy False False False -Orphanet:636970 Autosomal recessive myosin storage myopathy False False False -Orphanet:637 Full NF2-related schwannomatosis False False False -Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome False False False -Orphanet:637051 Borna virus encephalitis False False False Orphanet:637061 Isolated optic nerve hypoplasia False False False Orphanet:637064 Isolated optic nerve aplasia False False False -Orphanet:638 Neurofibromatosis-Noonan syndrome False False False -Orphanet:63862 Schisis association False False False -Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG False False False -Orphanet:63999 IgG4-related mediastinitis False False False -Orphanet:64 Alström syndrome False False False -Orphanet:640 Hereditary neuropathy with liability to pressure palsies False False False -Orphanet:641 Multifocal motor neuropathy False False False Orphanet:641343 Imprinting disorders False False False -Orphanet:641350 Immunotherapy induced hypophysitis False False False -Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome False False False -Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome False False False -Orphanet:641368 Autosomal recessive hyper-IgE syndrome False False False -Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) False False False -Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) False False False Orphanet:641380 PAPASH syndrome False False False Orphanet:641385 PASS syndrome False False False Orphanet:641390 PsAPASH syndrome False False False -Orphanet:641396 Central nervous system tuberculosis False False False -Orphanet:641496 Childhood-onset schizophrenia False False False -Orphanet:641613 Endogenous Cushing syndrome False False False -Orphanet:641829 Neonatal compartment syndrome False False False -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 False False False -Orphanet:642071 Primary pulmonary vein stenosis False False False -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type False False False -Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type False False False -Orphanet:642671 Familial hyperaldosteronism type IV False False False -Orphanet:642675 CHD8 overgrowth syndrome False False False -Orphanet:642691 Fragile X-associated primary ovarian insufficiency False False False -Orphanet:642747 PUM1-related cerebellar ataxia False False False -Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation False False False Orphanet:642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma False False False -Orphanet:64280 Childhood absence epilepsy False False False -Orphanet:642945 Perrault syndrome type 1 False False False -Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency False False False -Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency False False False -Orphanet:642976 Perrault syndrome type 2 False False False -Orphanet:643 Giant axonal neuropathy False False False -Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome False False False Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation False False False -Orphanet:643549 Hao-Fountain syndrome False False False -Orphanet:644 NARP syndrome False False False Orphanet:645188 Spinal dermal sinus False False False Orphanet:645193 Dysraphism with stalk False False False Orphanet:645196 Limited dorsal myeloschisis False False False Orphanet:645202 Closed spinal dysraphism False False False Orphanet:645270 Open spinal dysraphism with a posterior meningocele False False False Orphanet:645273 Dysraphic spinal cord lipoma False False False -Orphanet:645276 Spinal cord lipoma False False False Orphanet:645279 Fibrolipomatous filum anomaly False False False Orphanet:645282 Anomaly of the filum False False False Orphanet:645285 Chaotic conus spinal cord lipoma False False False @@ -6883,95 +72,37 @@ Orphanet:645322 Isolated transitional filum lipoma False False False Orphanet:645325 Isolated filum lipoma False False False Orphanet:645334 Retained medullary cord False False False Orphanet:645337 Terminal myelocystocele False False False -Orphanet:645340 Non-terminal myelocystocele False False False Orphanet:645343 Non-saccular limited dorsal myeloschisis False False False -Orphanet:645350 Segmental arterial mediolysis False False False Orphanet:645354 Saccular limited dorsal myeloschisis False False False Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma False False False Orphanet:645362 Dorsal spinal cord lipoma False False False Orphanet:645367 Conus spinal cord lipoma False False False Orphanet:645378 Myelic limited dorsal malformation False False False -Orphanet:645383 True myelomeningocele False False False -Orphanet:645388 Hemi-myelomeningocele False False False Orphanet:645393 Hemi-myeloschisis False False False Orphanet:645398 Myeloschisis False False False Orphanet:645401 True myeloschisis False False False -Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type False False False -Orphanet:64545 Benign idiopathic neonatal seizures False False False -Orphanet:645613 Classical dermatomyositis False False False -Orphanet:645617 Amyopathic dermatomyositis False False False -Orphanet:645626 Adermatopathic dermatomyositis False False False -Orphanet:645749 Congenital esophageal stenosis False False False -Orphanet:645793 Spontaneous intestinal perforation False False False -Orphanet:645807 Primary tuberculous lymphadenitis False False False -Orphanet:645814 Primary pulmonary tuberculosis False False False -Orphanet:645822 Primary bone and joint tuberculosis False False False -Orphanet:645849 Primary cutaneous tuberculosis False False False -Orphanet:645854 Multifocal tuberculosis False False False -Orphanet:645859 Primary tuberculosis of the digestive system False False False -Orphanet:645874 Primary genito-urinary tuberculosis False False False -Orphanet:646 Niemann-Pick disease type C False False False Orphanet:646098 Collagen VI-related congenital muscular dystrophy False False False Orphanet:646113 Intermediate collagen VI-related muscular dystrophy False False False -Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type False False False -Orphanet:646139 Dysplastic cortical hyperostosis False False False -Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome False False False -Orphanet:64686 Tolosa-Hunt syndrome False False False -Orphanet:64692 Oroya fever False False False -Orphanet:64694 Trench fever False False False -Orphanet:647 Nijmegen breakage syndrome False False False -Orphanet:64720 Leiomyosarcoma False False False -Orphanet:64722 Granulomatous mastitis False False False -Orphanet:64734 Iridocorneal endothelial syndrome False False False -Orphanet:64739 Ovarian hyperstimulation syndrome False False False -Orphanet:64741 Pulmonary blastoma False False False -Orphanet:64742 Pleuropulmonary blastoma False False False -Orphanet:64743 Hepatoportal sclerosis False False False -Orphanet:64744 IgG4-related thyroid disease False False False -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy False False False -Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 False False False -Orphanet:64747 X-linked Charcot-Marie-Tooth disease False False False -Orphanet:64748 Dejerine-Sottas syndrome False False False -Orphanet:64749 Charcot-Marie-Tooth disease type 4 False False False -Orphanet:64751 Hereditary motor and sensory neuropathy type 5 False False False -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 False False False -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 False False False -Orphanet:64754 Nevus comedonicus syndrome False False False -Orphanet:64755 Becker nevus syndrome False False False Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 False False False -Orphanet:647676 Multiple epiphyseal dysplasia type 7 False False False -Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome False False False Orphanet:647758 Adrenal Cushing syndrome False False False Orphanet:647768 Rare adrenocortical nodular disease with Cushing syndrome as a major feature False False False Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease False False False Orphanet:647782 Isolated micronodular adrenocortical disease False False False -Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome False False False -Orphanet:647794 Isolated persistent urogenital sinus False False False -Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome False False False -Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency False False False -Orphanet:647811 Cardiac-urogenital syndrome False False False Orphanet:647815 Keratoendotheliitis fugax hereditaria False False False -Orphanet:647823 Idiopathic pregnancy-associated osteoporosis False False False Orphanet:647834 SLC40A1-related hemochromatosis False False False Orphanet:647916 Conjoined twins False False False -Orphanet:648 Noonan syndrome False False False Orphanet:648559 Rare scleritis False False False -Orphanet:648562 Ferroportin Disease False False False Orphanet:648581 Digenic hemochromatosis False False False Orphanet:648665 Infectious scleritis False False False Orphanet:648675 Idiopathic scleritis False False False Orphanet:648681 Immune-mediated scleritis False False False Orphanet:648684 Central retinal artery occlusion False False False -Orphanet:648919 Idiopathic catatonia False False False Orphanet:648992 Non-syndromic bridging bronchus False False False -Orphanet:649 Norrie disease False False False Orphanet:649010 Non-syndromic congenital bronchial atresia False False False Orphanet:649014 Bronchial malformation False False False Orphanet:649017 Rare adrenocortical nodular disease False False False Orphanet:649029 Isolated left bronchial isomerism False False False Orphanet:649929 Central precocious puberty in male False False False -Orphanet:65 Leber congenital amaurosis False False False -Orphanet:650 LCAT deficiency False False False Orphanet:650063 Rare central precocious puberty False False False Orphanet:650070 Rare central precocious puberty in female False False False Orphanet:650077 Genetic central precocious puberty in female False False False @@ -6982,2409 +113,85 @@ Orphanet:650097 Genetic central precocious puberty in male False False False Orphanet:650102 Non-genetic central precocious puberty in male False False False Orphanet:650182 Genetic central precocious puberty False False False Orphanet:650187 Rare peripheral precocious puberty in female False False False -Orphanet:652 Multiple endocrine neoplasia type 1 False False False -Orphanet:65250 Perineural cyst False False False -Orphanet:65282 Carvajal syndrome False False False -Orphanet:65283 Timothy syndrome False False False -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease False False False -Orphanet:65285 Lhermitte-Duclos disease False False False -Orphanet:65286 3q29 microdeletion syndrome False False False -Orphanet:65287 Beta-ureidopropionase deficiency False False False -Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome False False False -Orphanet:653 Multiple endocrine neoplasia type 2 False False False -Orphanet:654 Nephroblastoma False False False -Orphanet:655 Nephronophthisis False False False -Orphanet:656 Genetic steroid-resistant nephrotic syndrome False False False -Orphanet:65681 Vaginal atresia False False False -Orphanet:65682 Benign recurrent intrahepatic cholestasis False False False -Orphanet:65683 Isolated focal cortical dysplasia False False False -Orphanet:65684 Monomelic amyotrophy False False False -Orphanet:657 Congenital isolated hyperinsulinism False False False -Orphanet:65720 Arthrogryposis-severe scoliosis syndrome False False False -Orphanet:65743 Autosomal dominant multiple pterygium syndrome False False False -Orphanet:65748 Multiple self-healing squamous epithelioma False False False -Orphanet:65753 Charcot-Marie-Tooth disease type 1 False False False -Orphanet:65759 Carpenter syndrome False False False -Orphanet:65798 Goodman syndrome False False False -Orphanet:658 Non-histaminic angioedema False False False -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques False False False -Orphanet:660 Omphalocele False False False -Orphanet:661 Congenital central hypoventilation syndrome False False False -Orphanet:662 Yellow nail syndrome False False False -Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia False False False -Orphanet:664 Ornithine transcarbamylase deficiency False False False -Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome False False False -Orphanet:66529 Tako-Tsubo cardiomyopathy False False False -Orphanet:666 Osteogenesis imperfecta False False False -Orphanet:66624 PANDAS False False False -Orphanet:66625 Cerebrooculonasal syndrome False False False -Orphanet:66627 Tenosynovial giant cell tumor False False False -Orphanet:66628 Obesity due to congenital leptin deficiency False False False -Orphanet:66629 Goldberg-Shprintzen megacolon syndrome False False False -Orphanet:66630 Congenital pseudoarthrosis of the clavicle False False False -Orphanet:66631 CEDNIK syndrome False False False -Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome False False False -Orphanet:66634 Dilated cardiomyopathy with ataxia False False False -Orphanet:66637 Diaphanospondylodysostosis False False False -Orphanet:66646 Cutaneous mastocytosis False False False -Orphanet:66661 Mast cell sarcoma False False False -Orphanet:66662 Extracutaneous mastocytoma False False False -Orphanet:667 Autosomal recessive malignant osteopetrosis False False False -Orphanet:668 Osteosarcoma False False False -Orphanet:67 Amoebiasis due to Entamoeba histolytica False False False -Orphanet:67036 Autosomal dominant optic atrophy and cataract False False False -Orphanet:67038 B-cell chronic lymphocytic leukemia False False False -Orphanet:67039 Segmental odontomaxillary dysplasia False False False -Orphanet:67041 Hyaluronidase deficiency False False False -Orphanet:67042 Late-onset retinal degeneration False False False -Orphanet:67043 Amoebic keratitis False False False -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia False False False -Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency False False False -Orphanet:67046 3-methylglutaconic aciduria type 1 False False False -Orphanet:67047 3-methylglutaconic aciduria type 3 False False False -Orphanet:67048 3-methylglutaconic aciduria type 4 False False False -Orphanet:671 Primary cutis verticis gyrata False False False -Orphanet:672 Pallister-Hall syndrome False False False -Orphanet:673 Malaria False False False -Orphanet:674 Accessory pancreas False False False -Orphanet:675 Annular pancreas False False False -Orphanet:676 Hereditary chronic pancreatitis False False False -Orphanet:677 Pancreatoblastoma False False False -Orphanet:678 Papillon-Lefèvre syndrome False False False -Orphanet:679 Malignant atrophic papulosis False False False -Orphanet:68 Amoebiasis due to free-living amoebae False False False -Orphanet:681 Hypokalemic periodic paralysis False False False -Orphanet:682 Hyperkalemic periodic paralysis False False False -Orphanet:683 Progressive supranuclear palsy False False False -Orphanet:68329 Rare maxillo-facial surgical disease False False False -Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect False False False -Orphanet:68335 Rare chromosomal anomaly False False False -Orphanet:68336 Rare genetic tumor False False False -Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome False False False -Orphanet:68346 Rare genetic skin disease False False False -Orphanet:68347 Tumor of hematopoietic and lymphoid tissues False False False -Orphanet:68354 Rare sleep disorder False False False -Orphanet:68356 Leukodystrophy False False False -Orphanet:68361 Rare deafness False False False -Orphanet:68362 Rare vascular disease False False False -Orphanet:68363 Rare dystonia False False False -Orphanet:68366 Lysosomal disease False False False -Orphanet:68367 Rare inborn errors of metabolism False False False -Orphanet:68373 Peroxisomal disease False False False -Orphanet:68378 Congenital limb malformation False False False -Orphanet:68380 Mitochondrial disease False False False -Orphanet:68381 Neuromuscular disease False False False -Orphanet:68385 Neurometabolic disease False False False -Orphanet:684 Paramyotonia congenita of Von Eulenburg False False False -Orphanet:68402 Rare parkinsonian disorder False False False -Orphanet:68411 Rare bone tumor False False False -Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly False False False -Orphanet:68416 Rare infectious disease False False False -Orphanet:68419 Vascular anomaly or angioma False False False -Orphanet:685 Hereditary spastic paraplegia False False False -Orphanet:69028 Dysostosis with brachydactyly False False False -Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome False False False -Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization False False False -Orphanet:69076 Familial renal glucosuria False False False -Orphanet:69077 Rhabdoid tumor False False False -Orphanet:69078 Liposarcoma False False False -Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome False False False -Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type False False False -Orphanet:69084 Pure hair and nail ectodermal dysplasia False False False -Orphanet:69085 Limb-mammary syndrome False False False -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome False False False -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome False False False -Orphanet:69125 Anonychia with flexural pigmentation False False False -Orphanet:69126 PAPA syndrome False False False -Orphanet:69663 Low phospholipid-associated cholelithiasis False False False -Orphanet:69665 Intrahepatic cholestasis of pregnancy False False False -Orphanet:69723 Tyrosinemia type 3 False False False -Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome False False False -Orphanet:69736 Bilateral acute depigmentation of the iris False False False -Orphanet:69737 Bosley-Salih-Alorainy syndrome False False False -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome False False False -Orphanet:69744 Circumscribed palmoplantar hypokeratosis False False False -Orphanet:69745 Warty dyskeratoma False False False -Orphanet:699 Pearson syndrome False False False -Orphanet:7 3C syndrome False False False -Orphanet:70 Proximal spinal muscular atrophy False False False -Orphanet:700 Alopecia totalis False False False -Orphanet:701 Alopecia universalis False False False -Orphanet:702 Pelizaeus-Merzbacher disease False False False -Orphanet:703 Bullous pemphigoid False False False -Orphanet:704 Pemphigus vulgaris False False False -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type False False False -Orphanet:70475 Radiation proctitis False False False -Orphanet:70476 Vernal keratoconjunctivitis False False False -Orphanet:70482 Carcinoma of esophagus False False False -Orphanet:705 Pendred syndrome False False False -Orphanet:70567 Cholangiocarcinoma False False False -Orphanet:70568 Post-transplant lymphoproliferative disease False False False -Orphanet:70573 Small cell lung cancer False False False -Orphanet:70578 Adult acute respiratory distress syndrome False False False -Orphanet:70587 Infant acute respiratory distress syndrome False False False -Orphanet:70588 Meconium aspiration syndrome False False False -Orphanet:70589 Bronchopulmonary dysplasia False False False -Orphanet:70590 Infantile apnea False False False -Orphanet:70591 Chronic thromboembolic pulmonary hypertension False False False -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency False False False -Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency False False False -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency False False False -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome False False False -Orphanet:70596 Congenital Epstein-Barr virus infection False False False -Orphanet:707 Plague False False False -Orphanet:708 Peters anomaly False False False -Orphanet:709 Peters plus syndrome False False False -Orphanet:71 Chylomicron retention disease False False False -Orphanet:710 Pfeiffer syndrome False False False -Orphanet:71198 Rare pulmonary hypertension False False False -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency False False False -Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly False False False -Orphanet:71203 Autoimmune thrombocytopenia False False False -Orphanet:71209 Rare soft tissue tumor False False False -Orphanet:71211 Neuromyelitis optica spectrum disorder False False False -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency False False False -Orphanet:71213 Retinal capillary malformation False False False -Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome False False False -Orphanet:71271 Split hand-split foot-deafness syndrome False False False -Orphanet:71272 Sandifer syndrome False False False -Orphanet:71273 Renal nutcracker syndrome False False False -Orphanet:71274 Disseminated peritoneal leiomyomatosis False False False -Orphanet:71275 Rh deficiency syndrome False False False -Orphanet:71276 Silent sinus syndrome False False False -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome False False False -Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency False False False -Orphanet:71279 CANOMAD syndrome False False False -Orphanet:71281 Rare central nervous system and retinal vascular disease False False False -Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome False False False -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy False False False -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency False False False -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency False False False -Orphanet:71493 Familial thrombocytosis False False False -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency False False False -Orphanet:71505 Cancer-associated retinopathy False False False -Orphanet:71517 Rapid-onset dystonia-parkinsonism False False False -Orphanet:71518 Benign paroxysmal torticollis of infancy False False False -Orphanet:71519 Psychogenic movement disorders False False False -Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency False False False -Orphanet:71528 Obesity due to prohormone convertase I deficiency False False False -Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency False False False -Orphanet:716 Phenylketonuria False False False -Orphanet:718 Isolated Pierre Robin syndrome False False False -Orphanet:71859 Rare genetic neurological disorder False False False -Orphanet:71862 Inherited retinal disorder False False False -Orphanet:71864 Muscular channelopathy False False False -Orphanet:72 Angelman syndrome False False False -Orphanet:720 Pili bifurcati False False False -Orphanet:721 Gray platelet syndrome False False False -Orphanet:722 Hypoplasminogenemia False False False -Orphanet:723 Pneumocystosis False False False -Orphanet:724 Idiopathic acute eosinophilic pneumonia False False False -Orphanet:725 Continuous spikes and waves during sleep False False False -Orphanet:726 Alpers-Huttenlocher syndrome False False False -Orphanet:727 Microscopic polyangiitis False False False -Orphanet:728 Relapsing polychondritis False False False -Orphanet:729 Polycythemia vera False False False -Orphanet:73 Gorham-Stout disease False False False -Orphanet:730 Autosomal dominant polycystic kidney disease False False False -Orphanet:731 Autosomal recessive polycystic kidney disease False False False -Orphanet:732 Polymyositis False False False -Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome False False False -Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome False False False -Orphanet:73229 HANAC syndrome False False False -Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome False False False -Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome False False False -Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome False False False -Orphanet:73256 Central neurocytoma False False False -Orphanet:73260 Paracoccidioidomycosis False False False -Orphanet:73263 Zygomycosis False False False -Orphanet:73267 Non-24-hour sleep-wake syndrome False False False -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect False False False -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency False False False -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance False False False -Orphanet:733 Familial adenomatous polyposis False False False -Orphanet:734 Alpha delta granule deficiency False False False -Orphanet:73423 Acute ackee fruit intoxication False False False -Orphanet:735 Porokeratosis of Mibelli False False False -Orphanet:737 Porokeratosis plantaris palmaris et disseminata False False False -Orphanet:738 Porphyria False False False -Orphanet:739 Prader-Willi syndrome False False False -Orphanet:74 Angiostrongyliasis False False False -Orphanet:740 Hutchinson-Gilford progeria syndrome False False False -Orphanet:741 Familial mitral valve prolapse False False False -Orphanet:742 Prolidase deficiency False False False -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency False False False -Orphanet:744 Proteus syndrome False False False -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency False False False -Orphanet:746 Mitochondrial trifunctional protein deficiency False False False -Orphanet:747 Autoimmune pulmonary alveolar proteinosis False False False -Orphanet:748 Mendelian susceptibility to mycobacterial diseases False False False -Orphanet:749 Congenital prekallikrein deficiency False False False -Orphanet:750 Pseudoachondroplasia False False False -Orphanet:75110 Myiasis False False False -Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency False False False -Orphanet:75233 Wolman disease False False False -Orphanet:75234 Cholesteryl ester storage disease False False False -Orphanet:75249 Familial isolated restrictive cardiomyopathy False False False -Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency False False False -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome False False False -Orphanet:75326 Retinal arterial tortuosity False False False -Orphanet:75327 North Carolina macular dystrophy False False False -Orphanet:75373 Progressive bifocal chorioretinal atrophy False False False -Orphanet:75374 Bradyopsia False False False -Orphanet:75376 Familial drusen False False False -Orphanet:75377 Central areolar choroidal dystrophy False False False -Orphanet:75378 Oligocone trichromacy False False False -Orphanet:75381 Cystoid macular dystrophy False False False -Orphanet:75382 Oguchi disease False False False -Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome False False False -Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency False False False -Orphanet:75392 Periodontal Ehlers-Danlos syndrome False False False -Orphanet:754 Androgen insensitivity syndrome False False False -Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome False False False -Orphanet:75497 X-linked Ehlers-Danlos syndrome False False False -Orphanet:755 Leydig cell hypoplasia False False False -Orphanet:75508 Angioosteohypotrophic syndrome False False False -Orphanet:75563 X-linked sideroblastic anemia False False False -Orphanet:75564 Acquired idiopathic sideroblastic anemia False False False -Orphanet:75565 Tropical endomyocardial fibrosis False False False -Orphanet:75566 Loeffler endocarditis False False False -Orphanet:75567 Primary progressive freezing gait False False False -Orphanet:756 Pseudohypoaldosteronism type 1 False False False -Orphanet:757 Pseudohypoaldosteronism type 2 False False False -Orphanet:758 Pseudoxanthoma elasticum False False False -Orphanet:75840 Congenital muscular dystrophy, Ullrich type False False False -Orphanet:75857 6q terminal deletion syndrome False False False -Orphanet:75858 MORM syndrome False False False -Orphanet:76 Strongyloidiasis False False False -Orphanet:760 Purine nucleoside phosphorylase deficiency False False False -Orphanet:761 Immunoglobulin A vasculitis False False False -Orphanet:763 Pycnodysostosis False False False -Orphanet:764 Pyomyositis False False False -Orphanet:765 Pyruvate dehydrogenase deficiency False False False -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency False False False -Orphanet:767 Polyarteritis nodosa False False False -Orphanet:768 Familial long QT syndrome False False False -Orphanet:769 Rabson-Mendenhall syndrome False False False -Orphanet:770 Rabies False False False -Orphanet:772 Infantile Refsum disease False False False -Orphanet:77240 Primary lymphedema False False False -Orphanet:77258 Trichorhinophalangeal syndrome type 1 False False False -Orphanet:77259 Gaucher disease type 1 False False False -Orphanet:77260 Gaucher disease type 2 False False False -Orphanet:77261 Gaucher disease type 3 False False False -Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency False False False -Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency False False False -Orphanet:77295 Odontoleukodystrophy False False False -Orphanet:77296 Morgagni-Stewart-Morel syndrome False False False -Orphanet:77297 Majeed syndrome False False False -Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome False False False -Orphanet:77299 Microphthalmia-brain atrophy syndrome False False False -Orphanet:773 Refsum disease False False False -Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome False False False -Orphanet:77301 Monosomy 9q22.3 False False False -Orphanet:774 Hereditary hemorrhagic telangiectasia False False False -Orphanet:776 Lujan-Fryns syndrome False False False -Orphanet:777 X-linked non-syndromic intellectual disability False False False -Orphanet:778 Rett syndrome False False False -Orphanet:77828 Genetic obesity False False False -Orphanet:77830 Rare genetic odontologic disease False False False -Orphanet:779 Reynolds syndrome False False False -Orphanet:78 Ankylostomiasis False False False -Orphanet:780 Rhabdomyosarcoma False False False -Orphanet:781 Q fever False False False -Orphanet:782 Axenfeld-Rieger syndrome False False False -Orphanet:783 Rubinstein-Taybi syndrome False False False -Orphanet:785 Estrogen resistance syndrome False False False -Orphanet:786 Generalized glucocorticoid resistance syndrome False False False -Orphanet:79 Congenital alpha2-antiplasmin deficiency False False False -Orphanet:790 Retinoblastoma False False False -Orphanet:79062 Disorder of amino acid and other organic acid metabolism False False False -Orphanet:79076 Juvenile polyposis of infancy False False False -Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis False False False -Orphanet:79083 PPARG-related familial partial lipodystrophy False False False -Orphanet:79084 Familial partial lipodystrophy, Köbberling type False False False -Orphanet:79085 AKT2-related familial partial lipodystrophy False False False -Orphanet:79086 Acquired generalized lipodystrophy False False False -Orphanet:79087 Acquired partial lipodystrophy False False False -Orphanet:79088 Localized lipodystrophy False False False -Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome False False False -Orphanet:79093 Foix-Alajouanine syndrome False False False -Orphanet:79094 Grange syndrome False False False -Orphanet:79095 Congenital bile acid synthesis defect type 4 False False False -Orphanet:79096 Pyridoxal phosphate-responsive seizures False False False -Orphanet:79097 Folinic acid-responsive seizures False False False -Orphanet:79098 Sympathetic ophthalmia False False False -Orphanet:79099 Interstitial granulomatous dermatitis with arthritis False False False -Orphanet:791 Retinitis pigmentosa False False False -Orphanet:79100 Atrophoderma vermiculata False False False -Orphanet:79101 Hyperprolinemia type 2 False False False -Orphanet:79102 Thyrotoxic periodic paralysis False False False -Orphanet:79105 Myxofibrosarcoma False False False -Orphanet:79106 Eiken syndrome False False False -Orphanet:79107 Developmental malformations-deafness-dystonia syndrome False False False -Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome False False False -Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome False False False -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome False False False -Orphanet:79126 Acute interstitial pneumonia False False False -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome False False False -Orphanet:79128 Lymphoid interstitial pneumonia False False False -Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome False False False -Orphanet:79133 Focal facial dermal dysplasia type I False False False -Orphanet:79134 DEND syndrome False False False -Orphanet:79135 Episodic ataxia type 3 False False False -Orphanet:79136 Episodic ataxia type 4 False False False -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome False False False -Orphanet:79138 Bickerstaff brainstem encephalitis False False False -Orphanet:79139 Japanese encephalitis False False False -Orphanet:79140 Cutaneous neuroendocrine carcinoma False False False -Orphanet:79141 Hereditary painful callosities False False False -Orphanet:79143 Isolated congenital anonychia False False False -Orphanet:79144 Isolated congenital onychodysplasia False False False -Orphanet:79145 Dowling-Degos disease False False False -Orphanet:79146 Familial progressive hyperpigmentation False False False -Orphanet:79147 Familial reactive perforating collagenosis False False False -Orphanet:79148 Elastosis perforans serpiginosa False False False -Orphanet:79149 Dermochondrocorneal dystrophy False False False -Orphanet:79150 Linear and whorled nevoid hypermelanosis False False False -Orphanet:79151 Acrokeratosis verruciformis of Hopf False False False -Orphanet:79152 Disseminated superficial actinic porokeratosis False False False -Orphanet:79153 Idiopathic trachyonychia False False False -Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria False False False -Orphanet:79155 Hydroxykynureninuria False False False -Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome False False False -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency False False False -Orphanet:79158 Cerebral organic aciduria False False False -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency False False False -Orphanet:79161 Disorder of carbohydrate metabolism False False False -Orphanet:79163 Classic organic aciduria False False False -Orphanet:79166 Disorder of amino acid absorption and transport False False False -Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification False False False -Orphanet:79168 Disorder of bile acid synthesis False False False -Orphanet:79169 Disorder of neurotransmitter metabolism and transport False False False -Orphanet:79171 Disorder of cobalamin metabolism and transport False False False -Orphanet:79172 Creatine deficiency syndrome False False False -Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism False False False -Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism False False False -Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism False False False -Orphanet:79177 Gluconeogenesis disorder False False False -Orphanet:79178 Glucose transport disorder False False False -Orphanet:79179 Disorder of glycerol metabolism False False False -Orphanet:79181 Disorder of histidine metabolism False False False -Orphanet:79183 Disorder of ketolysis False False False -Orphanet:79185 Disorder of ornithine or proline metabolism False False False -Orphanet:79186 Disorder of pentose phosphate metabolism False False False -Orphanet:79187 Disorder of peptide metabolism False False False -Orphanet:79189 Peroxisome biogenesis disorder False False False -Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism False False False -Orphanet:79191 Disorder of purine metabolism False False False -Orphanet:79192 Disorder of pyridoxine metabolism False False False -Orphanet:79193 Disorder of pyrimidine metabolism False False False -Orphanet:79194 Disorder of serine or glycine metabolism False False False -Orphanet:79195 Sterol biosynthesis disorder False False False -Orphanet:79196 Disorder of the gamma-glutamyl cycle False False False -Orphanet:79197 Disorder of branched-chain amino acid metabolism False False False -Orphanet:792 X-linked retinoschisis False False False -Orphanet:79200 Disorder of energy metabolism False False False -Orphanet:79201 Glycogen storage disease False False False -Orphanet:79207 Disorder of lysosomal amino acid transport False False False -Orphanet:79212 Mucolipidosis False False False -Orphanet:79214 Disorder of biogenic amine metabolism and transport False False False -Orphanet:79215 Oligosaccharidosis False False False -Orphanet:79217 Other metabolic disease with skin involvement False False False -Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency False False False -Orphanet:79224 Disorder of purine or pyrimidine metabolism False False False -Orphanet:79226 Sterol metabolism disorder False False False -Orphanet:79230 HJV or HAMP-related hemochromatosis False False False -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency False False False -Orphanet:79234 Crigler-Najjar syndrome type 1 False False False -Orphanet:79235 Crigler-Najjar syndrome type 2 False False False -Orphanet:79237 Galactokinase deficiency False False False -Orphanet:79238 Galactose epimerase deficiency False False False -Orphanet:79239 Classic galactosemia False False False -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency False False False -Orphanet:79241 Biotinidase deficiency False False False -Orphanet:79242 Holocarboxylase synthetase deficiency False False False -Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency False False False -Orphanet:79244 Pyruvate dehydrogenase E2 deficiency False False False -Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency False False False -Orphanet:79253 Mild phenylketonuria False False False -Orphanet:79254 Classic phenylketonuria False False False -Orphanet:79255 GM1 gangliosidosis type 1 False False False -Orphanet:79256 GM1 gangliosidosis type 2 False False False -Orphanet:79257 GM1 gangliosidosis type 3 False False False -Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia False False False -Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib False False False -Orphanet:79262 Adult neuronal ceroid lipofuscinosis False False False -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis False False False -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis False False False -Orphanet:79269 Sanfilippo syndrome type A False False False -Orphanet:79270 Sanfilippo syndrome type B False False False -Orphanet:79271 Sanfilippo syndrome type C False False False -Orphanet:79272 Sanfilippo syndrome type D False False False -Orphanet:79273 Hereditary coproporphyria False False False -Orphanet:79276 Acute intermittent porphyria False False False -Orphanet:79277 Congenital erythropoietic porphyria False False False -Orphanet:79278 Autosomal erythropoietic protoporphyria False False False -Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 False False False -Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 False False False -Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 False False False -Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC False False False -Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD False False False -Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF False False False -Orphanet:79292 Fish-eye disease False False False -Orphanet:79293 Familial LCAT deficiency False False False -Orphanet:79298 Diazoxide-resistant focal hyperinsulinism False False False -Orphanet:79299 Congenital glucokinase-related hyperinsulinism False False False -Orphanet:793 SAPHO syndrome False False False -Orphanet:79301 Congenital bile acid synthesis defect type 1 False False False -Orphanet:79302 Congenital bile acid synthesis defect type 3 False False False -Orphanet:79303 Congenital bile acid synthesis defect type 2 False False False -Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 False False False -Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 False False False -Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 False False False -Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA False False False -Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB False False False -Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- False False False -Orphanet:79314 L-2-hydroxyglutaric aciduria False False False -Orphanet:79315 D-2-hydroxyglutaric aciduria False False False -Orphanet:79318 PMM2-CDG False False False -Orphanet:79319 MPI-CDG False False False -Orphanet:79320 ALG6-CDG False False False -Orphanet:79321 ALG3-CDG False False False -Orphanet:79322 DPM1-CDG False False False -Orphanet:79323 MPDU1-CDG False False False -Orphanet:79324 ALG12-CDG False False False -Orphanet:79325 ALG8-CDG False False False -Orphanet:79326 ALG2-CDG False False False -Orphanet:79327 ALG1-CDG False False False -Orphanet:79328 ALG9-CDG False False False -Orphanet:79329 MGAT2-CDG False False False -Orphanet:79330 MOGS-CDG False False False -Orphanet:79332 B4GALT1-CDG False False False -Orphanet:79333 COG7-CDG False False False -Orphanet:79345 Brachytelephalangic chondrodysplasia punctata False False False -Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type False False False -Orphanet:79347 Chondrodysplasia punctata, Toriello type False False False -Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form False False False -Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form False False False -Orphanet:79353 Epidermal disease False False False -Orphanet:79354 Ichthyosis False False False -Orphanet:79355 Erythrokeratoderma False False False -Orphanet:79356 Acrokeratoderma False False False -Orphanet:79357 Hereditary palmoplantar keratoderma False False False -Orphanet:79358 Porokeratosis False False False -Orphanet:79359 Other epidermal disorder False False False -Orphanet:79360 Other genetic epidermal disease False False False -Orphanet:79361 Inherited epidermolysis bullosa False False False -Orphanet:79362 Epidermal appendage anomaly False False False -Orphanet:79363 Hair anomaly False False False -Orphanet:79364 Alopecia False False False -Orphanet:79365 Rare disorder with hypertrichosis False False False -Orphanet:79366 Isolated hair shaft abnormality False False False -Orphanet:79367 Syndromic hair shaft abnormality False False False -Orphanet:79368 Nail anomaly False False False -Orphanet:79369 Isolated nail anomaly False False False -Orphanet:79370 Syndromic nail anomaly False False False -Orphanet:79372 Sebaceous gland anomaly False False False -Orphanet:79373 Ectodermal dysplasia syndrome False False False -Orphanet:79374 Pigmentation anomaly of the skin False False False -Orphanet:79375 Hyperpigmentation of the skin False False False -Orphanet:79376 Hypopigmentation of the skin False False False -Orphanet:79377 Dermis disorder False False False -Orphanet:79378 Dermis elastic tissue disorder False False False -Orphanet:79379 Skin vascular disease False False False -Orphanet:79380 Mixed dermis disorder False False False -Orphanet:79381 Other dermis disorder False False False -Orphanet:79382 Subcutaneous tissue disease False False False -Orphanet:79384 Rare urticaria False False False -Orphanet:79385 Unclassified genetic skin disorder False False False -Orphanet:79386 Rare skin tumor or hamartoma False False False -Orphanet:79387 Metabolic disease with skin involvement False False False -Orphanet:79388 Mucopolysaccharidosis with skin involvement False False False -Orphanet:79389 Premature aging False False False -Orphanet:79390 Rare photodermatosis False False False -Orphanet:79391 Immune deficiency with skin involvement False False False -Orphanet:79394 Congenital ichthyosiform erythroderma False False False -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis False False False -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form False False False -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation False False False -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form False False False -Orphanet:794 Saethre-Chotzen syndrome False False False -Orphanet:79400 Localized epidermolysis bullosa simplex False False False -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement False False False -Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa False False False -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia False False False -Orphanet:79404 Severe generalized junctional epidermolysis bullosa False False False -Orphanet:79405 Junctional epidermolysis bullosa inversa False False False -Orphanet:79406 Late-onset junctional epidermolysis bullosa False False False -Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form False False False -Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa False False False -Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form False False False -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa False False False -Orphanet:79414 Woolly hair nevus False False False -Orphanet:79430 Hermansky-Pudlak syndrome False False False -Orphanet:79431 Oculocutaneous albinism type 1A False False False -Orphanet:79432 Oculocutaneous albinism type 2 False False False -Orphanet:79433 Oculocutaneous albinism type 3 False False False -Orphanet:79434 Oculocutaneous albinism type 1B False False False -Orphanet:79435 Oculocutaneous albinism type 4 False False False -Orphanet:79443 Pseudohypoparathyroidism type 1A False False False -Orphanet:79444 Pseudohypoparathyroidism type 1C False False False -Orphanet:79445 Pseudopseudohypoparathyroidism False False False -Orphanet:79447 X-linked lethal multiple pterygium syndrome False False False -Orphanet:79452 Milroy disease False False False -Orphanet:79455 Cutaneous mastocytoma False False False -Orphanet:79456 Diffuse cutaneous mastocytosis False False False -Orphanet:79457 Maculopapular cutaneous mastocytosis False False False -Orphanet:79466 Inflammatory linear verrucous epidermal nevus False False False -Orphanet:79467 Verrucous nevus False False False -Orphanet:79468 Acanthokeratolytic verrucous nevus False False False -Orphanet:79473 Porphyria variegata False False False -Orphanet:79474 Atypical Werner syndrome False False False -Orphanet:79476 Griscelli syndrome type 1 False False False -Orphanet:79477 Griscelli syndrome type 2 False False False -Orphanet:79478 Griscelli syndrome type 3 False False False -Orphanet:79479 Pemphigus vegetans False False False -Orphanet:79480 Pemphigus erythematosus False False False -Orphanet:79481 Pemphigus foliaceus False False False -Orphanet:79483 Phakomatosis cesioflammea False False False -Orphanet:79484 Phakomatosis cesiomarmorata False False False -Orphanet:79485 Phakomatosis spilorosea False False False -Orphanet:79489 Macrocystic lymphatic malformation False False False -Orphanet:79490 Microcystic lymphatic malformation False False False -Orphanet:79492 Pili gemini False False False -Orphanet:79493 Brooke-Spiegler syndrome False False False -Orphanet:79495 X-linked congenital generalized hypertrichosis False False False -Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome False False False -Orphanet:795 Rare form of salmonellosis False False False -Orphanet:79500 DOORS syndrome False False False -Orphanet:79501 Punctate palmoplantar keratoderma type 1 False False False -Orphanet:79502 Punctate palmoplantar keratoderma type 2 False False False -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin False False False -Orphanet:79506 Cholesterol-ester transfer protein deficiency False False False -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome False False False -Orphanet:796 Sandhoff disease False False False -Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency False False False -Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency False False False -Orphanet:79651 Mild hyperphenylalaninemia False False False -Orphanet:79665 Gardner syndrome False False False -Orphanet:79669 Autoimmune bullous skin disease False False False -Orphanet:797 Sarcoidosis False False False -Orphanet:798 Schinzel-Giedion syndrome False False False -Orphanet:799 Schizencephaly False False False -Orphanet:8 47,XYY syndrome False False False -Orphanet:80 Antiphospholipid syndrome False False False -Orphanet:800 Schwartz-Jampel syndrome False False False -Orphanet:801 Scleroderma False False False -Orphanet:803 Amyotrophic lateral sclerosis False False False -Orphanet:805 Tuberous sclerosis complex False False False -Orphanet:806 Scott syndrome False False False -Orphanet:808 Seckel syndrome False False False -Orphanet:809 Mixed connective tissue disease False False False -Orphanet:81 Antisynthetase syndrome False False False -Orphanet:810 Shigellosis False False False -Orphanet:811 Shwachman-Diamond syndrome False False False -Orphanet:812 Sialidosis type 1 False False False -Orphanet:813 Silver-Russell syndrome False False False -Orphanet:816 Sjögren-Larsson syndrome False False False -Orphanet:817 Peeling skin syndrome False False False -Orphanet:818 Smith-Lemli-Opitz syndrome False False False -Orphanet:819 Smith-Magenis syndrome False False False -Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency False False False -Orphanet:820 Sneddon syndrome False False False -Orphanet:821 Sotos syndrome False False False -Orphanet:822 Hereditary spherocytosis False False False -Orphanet:823 Spina bifida and other spinal dysraphisms False False False -Orphanet:824 Primary myelofibrosis False False False -Orphanet:826 Sporotrichosis False False False -Orphanet:827 Stargardt disease False False False -Orphanet:828 Stickler syndrome False False False -Orphanet:829 Adult-onset Still disease False False False -Orphanet:83 Antley-Bixler syndrome False False False -Orphanet:83001 Urogenital tract malformation False False False -Orphanet:831 Congenital cervical spinal stenosis False False False -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency False False False -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency False False False -Orphanet:83311 Rocky Mountain spotted fever False False False -Orphanet:83312 Rickettsialpox False False False -Orphanet:83313 Boutonneuse fever False False False -Orphanet:83314 Epidemic typhus False False False -Orphanet:83315 Murine typhus False False False -Orphanet:83316 Pseudotyphus of California False False False -Orphanet:83317 Scrub typhus False False False -Orphanet:83330 Proximal spinal muscular atrophy type 1 False False False -Orphanet:834 Free sialic acid storage disease False False False -Orphanet:83418 Proximal spinal muscular atrophy type 2 False False False -Orphanet:83419 Proximal spinal muscular atrophy type 3 False False False -Orphanet:83420 Proximal spinal muscular atrophy type 4 False False False -Orphanet:83450 Regional odontodysplasia False False False -Orphanet:83451 Florid cemento-osseous dysplasia False False False -Orphanet:83452 Complex regional pain syndrome False False False -Orphanet:83453 Vulvovaginal gingival syndrome False False False -Orphanet:83454 Glomuvenous malformation False False False -Orphanet:83461 Congenital primary aphakia False False False -Orphanet:83463 Microtia False False False -Orphanet:83465 Narcolepsy type 2 False False False -Orphanet:83467 Morvan syndrome False False False -Orphanet:83468 Solitary bone cyst False False False -Orphanet:83469 Desmoplastic small round cell tumor False False False -Orphanet:83471 T-cell immunodeficiency with thymic aplasia False False False -Orphanet:83472 CAMOS syndrome False False False -Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome False False False -Orphanet:83476 West-Nile encephalitis False False False -Orphanet:83482 Mycoplasma encephalitis False False False -Orphanet:83483 La Crosse encephalitis False False False -Orphanet:83484 St. Louis encephalitis False False False -Orphanet:83593 Western equine encephalitis False False False -Orphanet:83594 Eastern equine encephalitis False False False -Orphanet:83595 Colorado tick fever False False False -Orphanet:83597 Acute disseminated encephalomyelitis False False False -Orphanet:83600 Encephalitis lethargica False False False -Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis False False False -Orphanet:83616 Rubella panencephalitis False False False -Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome False False False -Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome False False False -Orphanet:83620 Enteric anendocrinosis False False False -Orphanet:83628 LUMBAR syndrome False False False -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome False False False -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency False False False -Orphanet:83642 Microcytic anemia with liver iron overload False False False -Orphanet:838 Susac syndrome False False False -Orphanet:839 Congenital nephrotic syndrome, Finnish type False False False -Orphanet:84 Fanconi anemia False False False -Orphanet:840 Syringocystadenoma papilliferum False False False -Orphanet:84064 Syndromic diarrhea False False False -Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects False False False -Orphanet:84081 Senior-Boichis syndrome False False False -Orphanet:84085 Hinman syndrome False False False -Orphanet:84087 Collagen type III glomerulopathy False False False -Orphanet:84090 Fibronectin glomerulopathy False False False -Orphanet:84093 Hereditary thermosensitive neuropathy False False False -Orphanet:841 Sebocystomatosis False False False -Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions False False False -Orphanet:84142 Isaacs syndrome False False False -Orphanet:842 Testicular seminomatous germ cell tumor False False False -Orphanet:844 Lown-Ganong-Levine syndrome False False False -Orphanet:845 Tay-Sachs disease False False False -Orphanet:846 Alpha-thalassemia False False False -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome False False False -Orphanet:848 Beta-thalassemia False False False -Orphanet:849 Glanzmann thrombasthenia False False False -Orphanet:85 Congenital dyserythropoietic anemia False False False -Orphanet:851 Paris-Trousseau thrombocytopenia False False False -Orphanet:85102 Perineurioma False False False -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies False False False -Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome False False False -Orphanet:85128 Bothnia retinal dystrophy False False False -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly False False False -Orphanet:85138 Addison disease False False False -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type False False False -Orphanet:85162 Facial onset sensory and motor neuronopathy False False False -Orphanet:85163 Hypomyelination-congenital cataract syndrome False False False -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome False False False -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome False False False -Orphanet:85166 Platyspondylic dysplasia, Torrance type False False False -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome False False False -Orphanet:85168 Craniofacial conodysplasia False False False -Orphanet:85169 Familial digital arthropathy-brachydactyly False False False -Orphanet:85170 Mesomelic dysplasia, Savarirayan type False False False -Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type False False False -Orphanet:85173 IMAGe syndrome False False False -Orphanet:85174 Pseudodiastrophic dysplasia False False False -Orphanet:85175 Astley-Kendall dysplasia False False False -Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia False False False -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome False False False -Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type False False False -Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome False False False -Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type False False False -Orphanet:85191 Singleton-Merten dysplasia False False False -Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome False False False -Orphanet:85193 Idiopathic juvenile osteoporosis False False False -Orphanet:85194 Spondylo-ocular syndrome False False False -Orphanet:85195 Familial expansile osteolysis False False False -Orphanet:85197 Genochondromatosis type 1 False False False -Orphanet:85198 Dysspondyloenchondromatosis False False False -Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome False False False -Orphanet:852 X-linked thrombocytopenia with normal platelets False False False -Orphanet:85200 Ischiovertebral syndrome False False False -Orphanet:85201 Genitopatellar syndrome False False False -Orphanet:85202 Keutel syndrome False False False -Orphanet:85203 Acropectoral syndrome False False False -Orphanet:85212 Fetal Gaucher disease False False False -Orphanet:85273 X-linked intellectual disability, Abidi type False False False -Orphanet:85274 Syndromic X-linked intellectual disability 7 False False False -Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome False False False -Orphanet:85276 X-linked intellectual disability, Armfield type False False False -Orphanet:85277 X-linked intellectual disability, Cantagrel type False False False -Orphanet:85278 Christianson syndrome False False False -Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability False False False -Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome False False False -Orphanet:85282 MEHMO syndrome False False False -Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type False False False -Orphanet:85284 BRESEK syndrome False False False -Orphanet:85285 X-linked intellectual disability, Schimke type False False False -Orphanet:85286 X-linked intellectual disability, Shashi type False False False -Orphanet:85287 X-linked intellectual disability, Siderius type False False False -Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type False False False -Orphanet:85290 X-linked intellectual disability, Wilson type False False False -Orphanet:85292 X-linked spinocerebellar ataxia type 4 False False False -Orphanet:85293 X-linked intellectual disability, Cabezas type False False False -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome False False False -Orphanet:85295 HSD10 disease, atypical type False False False -Orphanet:85297 X-linked spinocerebellar ataxia type 3 False False False -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia False False False -Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome False False False -Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome False False False -Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome False False False -Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type False False False -Orphanet:85322 X-linked intellectual disability, Pai type False False False -Orphanet:85323 X-linked intellectual disability, Seemanova type False False False -Orphanet:85324 X-linked intellectual disability, Shrimpton type False False False -Orphanet:85325 X-linked intellectual disability, Stevenson type False False False -Orphanet:85326 X-linked intellectual disability, Stoll type False False False -Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome False False False -Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome False False False -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome False False False -Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type False False False -Orphanet:85335 Fried syndrome False False False -Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type False False False -Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome False False False -Orphanet:854 Primitive portal vein thrombosis False False False -Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis False False False -Orphanet:85410 Oligoarticular juvenile idiopathic arthritis False False False -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis False False False -Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis False False False -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis False False False -Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis False False False -Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome False False False -Orphanet:85443 AL amyloidosis False False False -Orphanet:85445 AA amyloidosis False False False -Orphanet:85446 Wild type ABeta2M amyloidosis False False False -Orphanet:85447 ATTRV30M amyloidosis False False False -Orphanet:85448 AGel amyloidosis False False False -Orphanet:85450 Hereditary amyloidosis with primary renal involvement False False False -Orphanet:85451 ATTRV122I amyloidosis False False False -Orphanet:85453 X-linked reticulate pigmentary disorder False False False -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis False False False -Orphanet:857 Townes-Brocks syndrome False False False -Orphanet:858 Congenital toxoplasmosis False False False -Orphanet:859 Transcobalamin deficiency False False False -Orphanet:86 Familial abdominal aortic aneurysm False False False -Orphanet:860 Congenitally uncorrected transposition of the great arteries False False False -Orphanet:861 Treacher-Collins syndrome False False False -Orphanet:863 Trichinellosis False False False -Orphanet:86309 DPAGT1-CDG False False False -Orphanet:864 Trichofolliculoma False False False -Orphanet:867 Familial multiple trichoepithelioma False False False -Orphanet:86788 X-linked severe congenital neutropenia False False False -Orphanet:86789 Patella aplasia/hypoplasia False False False -Orphanet:86795 Localized lichen myxedematosus False False False -Orphanet:86797 Atypical lichen myxedematosus False False False -Orphanet:868 Triose phosphate-isomerase deficiency False False False -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 False False False -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration False False False -Orphanet:86814 Benign adult familial myoclonic epilepsy False False False -Orphanet:86815 Aplasia of lacrimal and salivary glands False False False -Orphanet:86816 Congenital analbuminemia False False False -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency False False False -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome False False False -Orphanet:86819 Atrichia with papular lesions False False False -Orphanet:86820 Familial avascular necrosis of femoral head False False False -Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome False False False -Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome False False False -Orphanet:86823 Lissencephaly with cerebellar hypoplasia False False False -Orphanet:86829 Chronic neutrophilic leukemia False False False -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable False False False -Orphanet:86834 Juvenile myelomonocytic leukemia False False False -Orphanet:86839 Refractory anemia with excess blasts False False False -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality False False False -Orphanet:86843 Acute panmyelosis with myelofibrosis False False False -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features False False False -Orphanet:86849 Acute basophilic leukemia False False False -Orphanet:86850 Myeloid sarcoma False False False -Orphanet:86852 B-cell prolymphocytic leukemia False False False -Orphanet:86854 Splenic marginal zone lymphoma False False False -Orphanet:86855 Plasmacytoma False False False -Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease False False False -Orphanet:86864 Heavy chain disease False False False -Orphanet:86867 Nodal marginal zone B-cell lymphoma False False False -Orphanet:86869 Lymphomatoid granulomatosis False False False -Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm False False False -Orphanet:86871 T-cell prolymphocytic leukemia False False False -Orphanet:86872 T-cell large granular lymphocyte leukemia False False False -Orphanet:86873 Aggressive NK-cell leukemia False False False -Orphanet:86875 Adult T-cell leukemia/lymphoma False False False -Orphanet:86879 Extranodal nasal NK/T cell lymphoma False False False -Orphanet:86880 Enteropathy-associated T-cell lymphoma False False False -Orphanet:86882 Hepatosplenic T-cell lymphoma False False False -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma False False False -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified False False False -Orphanet:86886 Angioimmunoblastic T-cell lymphoma False False False -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma False False False -Orphanet:86896 Histiocytic sarcoma False False False -Orphanet:86897 Langerhans cell sarcoma False False False -Orphanet:869 Triple A syndrome False False False -Orphanet:86900 Interdigitating dendritic cell sarcoma False False False -Orphanet:86902 Follicular dendritic cell sarcoma False False False -Orphanet:86903 Dendritic cell sarcoma not otherwise specified False False False -Orphanet:86904 Methotrexate-associated lymphoproliferative disorders False False False -Orphanet:86906 Hypothalamic hamartomas with gelastic seizures False False False -Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome False False False -Orphanet:86909 Myoclonic epilepsy of infancy False False False -Orphanet:86911 Epilepsy with myoclonic absences False False False -Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies False False False -Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome False False False -Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome False False False -Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome False False False -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome False False False -Orphanet:86920 Dermatopathia pigmentosa reticularis False False False -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type False False False -Orphanet:87 Apert syndrome False False False -Orphanet:870 Down syndrome False False False -Orphanet:871 Familial progressive cardiac conduction defect False False False -Orphanet:87277 Rare intellectual disability False False False -Orphanet:873 Desmoid tumor False False False -Orphanet:874 Primary adult heart tumor False False False -Orphanet:875 Primary pediatric heart tumor False False False -Orphanet:87503 Mal de Meleda False False False -Orphanet:876 Yolk sac tumor False False False -Orphanet:877 Neuroendocrine neoplasm False False False -Orphanet:87876 Sialidosis type 2 False False False -Orphanet:87884 Non-syndromic genetic deafness False False False -Orphanet:879 Tungiasis False False False -Orphanet:88 Idiopathic aplastic anemia False False False -Orphanet:881 Turner syndrome False False False -Orphanet:882 Tyrosinemia type 1 False False False -Orphanet:883 Extragonadal teratoma False False False -Orphanet:884 Tetrasomy 12p False False False -Orphanet:886 Usher syndrome False False False -Orphanet:88616 Autosomal recessive non-syndromic intellectual disability False False False -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency False False False -Orphanet:88619 Familial acute necrotizing encephalopathy False False False -Orphanet:88620 Isolated congenital anosmia False False False -Orphanet:88621 Ichthyosis-prematurity syndrome False False False -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome False False False -Orphanet:88629 Tritanopia False False False -Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome False False False -Orphanet:88632 Anterior segment developmental anomaly False False False -Orphanet:88633 Superior limbic keratoconjunctivitis False False False -Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates False False False -Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome False False False -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency False False False -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy False False False -Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome False False False -Orphanet:88644 Autosomal recessive ataxia, Beauce type False False False -Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension False False False -Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor False False False -Orphanet:88661 Amelogenesis imperfecta False False False -Orphanet:887 VACTERL/VATER association False False False -Orphanet:888 Van der Woude syndrome False False False -Orphanet:889 Cutaneous small vessel vasculitis False False False -Orphanet:88917 X-linked Alport syndrome False False False -Orphanet:88918 Autosomal dominant Alport syndrome False False False -Orphanet:88919 Autosomal recessive Alport syndrome False False False -Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis False False False -Orphanet:88938 Pseudohypoaldosteronism type 2A False False False -Orphanet:88939 Pseudohypoaldosteronism type 2B False False False -Orphanet:88940 Pseudohypoaldosteronism type 2C False False False -Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease False False False -Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease False False False -Orphanet:88991 Rare congenital non-syndromic heart malformation False False False -Orphanet:88993 Esophageal malformation False False False -Orphanet:890 Hepatic veno-occlusive disease False False False -Orphanet:89043 Rare dementia False False False -Orphanet:891 Familial exudative vitreoretinopathy False False False -Orphanet:892 Von Hippel-Lindau disease False False False -Orphanet:893 WAGR syndrome False False False -Orphanet:894 Waardenburg syndrome type 1 False False False -Orphanet:895 Waardenburg syndrome type 2 False False False -Orphanet:896 Waardenburg syndrome type 3 False False False -Orphanet:897 Waardenburg-Shah syndrome False False False -Orphanet:898 Wagner disease False False False -Orphanet:89826 Rare skin disease False False False -Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex False False False -Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form False False False -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa False False False -Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type False False False -Orphanet:899 Walker-Warburg syndrome False False False -Orphanet:89936 X-linked hypophosphatemia False False False -Orphanet:89937 Autosomal dominant hypophosphatemic rickets False False False -Orphanet:89938 Bartter syndrome type 4 False False False -Orphanet:9 Tetrasomy X False False False -Orphanet:90 Argininemia False False False -Orphanet:900 Granulomatosis with polyangiitis False False False -Orphanet:90000 Erythema elevatum diutinum False False False -Orphanet:90001 X-linked cone dysfunction syndrome with myopia False False False -Orphanet:90002 Undifferentiated connective tissue syndrome False False False -Orphanet:90003 Inflammatory pseudotumor of the liver False False False -Orphanet:90020 Parkinson-dementia complex of Guam False False False -Orphanet:90021 Radiation myelitis False False False -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency False False False -Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia False False False -Orphanet:90025 Non-syndromic syndactyly False False False -Orphanet:90026 Primary erythromelalgia False False False -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency False False False -Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency False False False -Orphanet:90033 Autoimmune hemolytic anemia, warm type False False False -Orphanet:90035 Paroxysmal cold hemoglobinuria False False False -Orphanet:90036 Mixed-type autoimmune hemolytic anemia False False False -Orphanet:90037 Drug-induced autoimmune hemolytic anemia False False False -Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome False False False -Orphanet:90039 Hemoglobin D disease False False False -Orphanet:90041 Gaisböck syndrome False False False -Orphanet:90042 Primary familial polycythemia False False False -Orphanet:90044 Familial pseudohyperkalemia False False False -Orphanet:90045 Hereditary folate malabsorption False False False -Orphanet:90050 Retinopathy of prematurity False False False -Orphanet:90058 Spinal cord injury False False False -Orphanet:90059 Sudden sensorineural hearing loss False False False -Orphanet:90060 Diffuse alveolar hemorrhage False False False -Orphanet:90061 Non-infectious posterior uveitis False False False -Orphanet:90062 Acute liver failure False False False -Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage False False False -Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection False False False -Orphanet:90068 Cocaine intoxication False False False -Orphanet:90069 Systemic monochloroacetate poisoning False False False -Orphanet:90077 Other acquired skin disease False False False -Orphanet:90081 AIDS wasting syndrome False False False -Orphanet:901 Wells syndrome False False False -Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome False False False -Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease False False False -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type False False False -Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency False False False -Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy False False False -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 False False False -Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy False False False -Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy False False False -Orphanet:90156 Centrifugal lipodystrophy False False False -Orphanet:90157 Drug-induced localized lipodystrophy False False False -Orphanet:90158 Idiopathic localized lipodystrophy False False False -Orphanet:90159 Panniculitis-induced localized lipodystrophy False False False -Orphanet:90160 Pressure-induced localized lipoatrophy False False False -Orphanet:90186 Meige disease False False False -Orphanet:902 Werner syndrome False False False -Orphanet:90280 Chilblain lupus False False False -Orphanet:90281 Discoid lupus erythematosus False False False -Orphanet:90282 Hypertrophic or verrucous lupus erythematosus False False False -Orphanet:90283 Lupus erythematosus tumidus False False False -Orphanet:90285 Lupus erythematosus panniculitis False False False -Orphanet:90289 Localized scleroderma False False False -Orphanet:90291 Systemic sclerosis False False False -Orphanet:903 Von Willebrand disease False False False -Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome False False False -Orphanet:90307 Parkes Weber syndrome False False False -Orphanet:90308 Klippel-Trénaunay syndrome False False False -Orphanet:90321 Cockayne syndrome type 1 False False False -Orphanet:90322 Cockayne syndrome type 2 False False False -Orphanet:90324 Cockayne syndrome type 3 False False False -Orphanet:90340 Blau syndrome False False False -Orphanet:90342 Xeroderma pigmentosum variant False False False -Orphanet:90348 Autosomal dominant cutis laxa False False False -Orphanet:90349 Autosomal recessive cutis laxa type 1 False False False -Orphanet:90350 Autosomal recessive cutis laxa type 2 False False False -Orphanet:90354 Brittle cornea syndrome False False False -Orphanet:90362 Primary intestinal lymphangiectasia False False False -Orphanet:90363 Secondary intestinal lymphangiectasia False False False -Orphanet:90368 Hypotrichosis simplex of the scalp False False False -Orphanet:90389 Telangiectasia macularis eruptiva perstans False False False -Orphanet:90390 Anonychia-onychodystrophy syndrome False False False -Orphanet:90393 Nodular lichen myxedematosus False False False -Orphanet:90394 Discrete papular lichen myxedematosus False False False -Orphanet:90395 Papular mucinosis of infancy False False False -Orphanet:90396 Acral persistent papular mucinosis False False False -Orphanet:90397 Self-healing papular mucinosis False False False -Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes False False False -Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms False False False -Orphanet:904 Williams syndrome False False False -Orphanet:90400 Scleromyxedema without monoclonal gammopathy False False False -Orphanet:905 Wilson disease False False False -Orphanet:906 Wiskott-Aldrich syndrome False False False -Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN False False False -Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA False False False -Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB False False False -Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness False False False -Orphanet:90642 Syndromic genetic deafness False False False -Orphanet:90646 Deafness-hypogonadism syndrome False False False -Orphanet:90647 Jervell and Lange-Nielsen syndrome False False False -Orphanet:90650 Otopalatodigital syndrome type 1 False False False -Orphanet:90652 Otopalatodigital syndrome type 2 False False False -Orphanet:90653 Stickler syndrome type 1 False False False -Orphanet:90654 Stickler syndrome type 2 False False False -Orphanet:90658 Charcot-Marie-Tooth disease type 1E False False False -Orphanet:90673 Hypothyroidism due to TSH receptor mutations False False False -Orphanet:90674 Isolated thyroid-stimulating hormone deficiency False False False -Orphanet:90692 Rare endocrine growth disease False False False -Orphanet:90695 Non-acquired panhypopituitarism False False False -Orphanet:90771 Difference of sex development False False False -Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess False False False -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency False False False -Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency False False False -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency False False False -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency False False False -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency False False False -Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency False False False -Orphanet:90797 Partial androgen insensitivity syndrome False False False -Orphanet:908 Fragile X syndrome False False False -Orphanet:909 Cerebrotendinous xanthomatosis False False False -Orphanet:90970 Primary lipodystrophy False False False -Orphanet:91 Aromatase deficiency False False False -Orphanet:910 Xeroderma pigmentosum False False False -Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy False False False -Orphanet:91088 Other metabolic disease False False False -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency False False False -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome False False False -Orphanet:91131 DK1-CDG False False False -Orphanet:91132 Ichthyosis-hypotrichosis syndrome False False False -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency False False False -Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome False False False -Orphanet:91138 Cryoglobulinemic vasculitis False False False -Orphanet:91139 Simple cryoglobulinemia False False False -Orphanet:91140 Unspecified juvenile idiopathic arthritis False False False -Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen False False False -Orphanet:912 Zellweger syndrome False False False -Orphanet:913 Zollinger-Ellison syndrome False False False -Orphanet:91347 TSH-secreting pituitary adenoma False False False -Orphanet:91348 Functioning gonadotropic adenoma False False False -Orphanet:91349 Non-functioning pituitary adenoma False False False -Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts False False False -Orphanet:91351 Pituitary dermoid and epidermoid cysts False False False -Orphanet:91352 Germinoma of the central nervous system False False False -Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome False False False -Orphanet:91355 Sheehan syndrome False False False -Orphanet:91357 Duplication of the esophagus False False False -Orphanet:91358 Congenital esophageal diverticulum False False False -Orphanet:91359 Chronic pneumonitis of infancy False False False -Orphanet:91364 Non-specific interstitial pneumonia False False False -Orphanet:91378 Hereditary angioedema False False False -Orphanet:91385 Acquired angioedema False False False -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection False False False -Orphanet:91396 Isolated cryptophthalmia False False False -Orphanet:91397 Isolated ankyloblepharon filiforme adnatum False False False -Orphanet:91411 Congenital ptosis False False False -Orphanet:91412 Marcus-Gunn syndrome False False False -Orphanet:91413 Congenital Horner syndrome False False False -Orphanet:91414 Pilomatrixoma False False False -Orphanet:91416 Isolated congenital alacrima False False False -Orphanet:91481 Ring dermoid of cornea False False False -Orphanet:91483 Rieger anomaly False False False -Orphanet:91489 Isolated congenital megalocornea False False False -Orphanet:91490 Isolated congenital sclerocornea False False False -Orphanet:91491 Congenital ectropion uveae False False False -Orphanet:91492 Early-onset non-syndromic cataract False False False -Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome False False False -Orphanet:91495 Persistent hyperplastic primary vitreous False False False -Orphanet:91496 Snowflake vitreoretinal degeneration False False False -Orphanet:91498 Familial congenital palsy of trochlear nerve False False False -Orphanet:915 Aarskog-Scott syndrome False False False -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome False False False -Orphanet:91546 Lyme disease False False False -Orphanet:91547 Relapsing fever False False False -Orphanet:916 Aase-Smith syndrome False False False -Orphanet:920 Ablepharon macrostomia syndrome False False False -Orphanet:92050 Congenital tufting enteropathy False False False -Orphanet:921 Abruzzo-Erickson syndrome False False False -Orphanet:922 Familial nasal acilia False False False -Orphanet:926 Acatalasemia False False False -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency False False False -Orphanet:929 Achalasia-microcephaly syndrome False False False -Orphanet:93 Aspartylglucosaminuria False False False -Orphanet:930 Idiopathic achalasia False False False -Orphanet:931 Acheiropodia False False False -Orphanet:93100 Renal agenesis, unilateral False False False -Orphanet:93101 Renal hypoplasia False False False -Orphanet:93108 Renal dysplasia False False False -Orphanet:93109 Congenital megacalycosis False False False -Orphanet:93110 Posterior urethral valve False False False -Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease False False False -Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E False False False -Orphanet:93126 Pauci-immune glomerulonephritis False False False -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets False False False -Orphanet:93164 Transient pseudohypoaldosteronism False False False -Orphanet:93172 Renal dysplasia, unilateral False False False -Orphanet:93173 Renal dysplasia, bilateral False False False -Orphanet:93176 Unilateral congenital megacalycosis False False False -Orphanet:93177 Congenital bilateral megacalycosis False False False -Orphanet:932 Achondrogenesis False False False -Orphanet:93256 Fragile X-associated tremor/ataxia syndrome False False False -Orphanet:93258 Pfeiffer syndrome type 1 False False False -Orphanet:93259 Pfeiffer syndrome type 2 False False False -Orphanet:93260 Pfeiffer syndrome type 3 False False False -Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome False False False -Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome False False False -Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type False False False -Orphanet:93269 Short rib-polydactyly syndrome, Majewski type False False False -Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type False False False -Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type False False False -Orphanet:93274 Thanatophoric dysplasia type 2 False False False -Orphanet:93276 Polyostotic fibrous dysplasia False False False -Orphanet:93277 Monostotic fibrous dysplasia False False False -Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis False False False -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type False False False -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type False False False -Orphanet:93284 Spondyloepiphyseal dysplasia tarda False False False -Orphanet:93292 Adenoma of pancreas False False False -Orphanet:93293 Okihiro syndrome False False False -Orphanet:93296 Achondrogenesis type 2 False False False -Orphanet:93297 Hypochondrogenesis False False False -Orphanet:93298 Achondrogenesis type 1B False False False -Orphanet:93299 Achondrogenesis type 1A False False False -Orphanet:93302 Brachyolmia, Maroteaux type False False False -Orphanet:93304 Autosomal dominant brachyolmia False False False -Orphanet:93307 Multiple epiphyseal dysplasia type 4 False False False -Orphanet:93308 Multiple epiphyseal dysplasia type 1 False False False -Orphanet:93311 Multiple epiphyseal dysplasia type 5 False False False -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type False False False -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type False False False -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type False False False -Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type False False False -Orphanet:93320 Ulnar hemimelia False False False -Orphanet:93321 Radial hemimelia False False False -Orphanet:93322 Tibial hemimelia False False False -Orphanet:93323 Fibular hemimelia False False False -Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome False False False -Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome False False False -Orphanet:93328 Autosomal dominant omodysplasia False False False -Orphanet:93329 Autosomal recessive omodysplasia False False False -Orphanet:93333 Pelviscapular dysplasia False False False -Orphanet:93334 Postaxial polydactyly type A False False False -Orphanet:93335 Postaxial polydactyly type B False False False -Orphanet:93336 Polydactyly of a triphalangeal thumb False False False -Orphanet:93337 Polydactyly of an index finger False False False -Orphanet:93338 Polysyndactyly False False False -Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux False False False -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type False False False -Orphanet:93347 Anauxetic dysplasia False False False -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia False False False -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type False False False -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type False False False -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type False False False -Orphanet:93357 SPONASTRIME dysplasia False False False -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome False False False -Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type False False False -Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 False False False -Orphanet:93382 Brachydactyly type A6 False False False -Orphanet:93383 Brachydactyly type B False False False -Orphanet:93384 Brachydactyly type C False False False -Orphanet:93387 Brachydactyly type E False False False -Orphanet:93388 Brachydactyly type A1 False False False -Orphanet:93394 Brachydactyly type A4 False False False -Orphanet:93396 Brachydactyly type A2 False False False -Orphanet:93397 Brachydactyly type A7 False False False -Orphanet:93398 Genochondromatosis type 2 False False False -Orphanet:93399 Juvenile sialidosis type 2 False False False -Orphanet:93400 Congenital sialidosis type 2 False False False -Orphanet:93402 Syndactyly type 1 False False False -Orphanet:93403 Syndactyly type 2 False False False -Orphanet:93404 Syndactyly type 3 False False False -Orphanet:93405 Syndactyly type 4 False False False -Orphanet:93406 Syndactyly type 5 False False False -Orphanet:93409 Brachydactyly-syndactyly, Zhao type False False False -Orphanet:93419 Rare bone disease False False False -Orphanet:93420 FGFR3-related chondrodysplasia False False False -Orphanet:93421 Type 2 collagen-related bone disorder False False False -Orphanet:93422 Type 11 collagen-related bone disorder False False False -Orphanet:93423 Sulfation-related bone disorder False False False -Orphanet:93424 Perlecan-related bone disorder False False False -Orphanet:93425 Filamin-related bone disorder False False False -Orphanet:93426 Ciliopathies with major skeletal involvement False False False -Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia False False False -Orphanet:93430 Multiple metaphyseal dysplasia False False False -Orphanet:93434 Spondylodysplastic dysplasia False False False -Orphanet:93436 Acromelic dysplasia False False False -Orphanet:93437 Acromesomelic dysplasia False False False -Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia False False False -Orphanet:93439 Campomelic dysplasia and related disorders False False False -Orphanet:93440 Slender bone dysplasia False False False -Orphanet:93441 Primary bone dysplasia with multiple joint dislocations False False False -Orphanet:93442 Chondrodysplasia punctata False False False -Orphanet:93443 Neonatal osteosclerotic dysplasia False False False -Orphanet:93444 Primary bone dysplasia with increased bone density False False False -Orphanet:93446 Primary bone dysplasia with decreased bone density False False False -Orphanet:93447 Primary bone dysplasia with defective bone mineralization False False False -Orphanet:93448 Lysosomal storage disease with skeletal involvement False False False -Orphanet:93449 Primary osteolysis False False False -Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components False False False -Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect False False False -Orphanet:93453 Dysostosis with predominant craniofacial involvement False False False -Orphanet:93454 Dysostosis with predominant vertebral and costal involvement False False False -Orphanet:93455 Patellar dysostosis False False False -Orphanet:93457 Non-syndromic limb reduction defect False False False -Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy False False False -Orphanet:93459 Syndrome with synostosis or other joint formation defect False False False -Orphanet:93460 Overgrowth syndrome False False False -Orphanet:93461 Chromosomal disease with overgrowth False False False -Orphanet:93465 Lethal chondrodysplasia False False False -Orphanet:93473 Hurler syndrome False False False -Orphanet:93474 Scheie syndrome False False False -Orphanet:93476 Hurler-Scheie syndrome False False False -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency False False False -Orphanet:93545 Renal or urinary tract malformation False False False -Orphanet:93552 Pediatric systemic lupus erythematosus False False False -Orphanet:93554 Mixed cryoglobulinemia type II False False False -Orphanet:93555 Mixed cryoglobulinemia type III False False False -Orphanet:93556 Heavy chain deposition disease False False False -Orphanet:93557 Light and heavy chain deposition disease False False False -Orphanet:93558 Light chain deposition disease False False False -Orphanet:93560 AApoAI amyloidosis False False False -Orphanet:93561 ALys amyloidosis False False False -Orphanet:93562 AFib amyloidosis False False False -Orphanet:93568 Juvenile polymyositis False False False -Orphanet:93569 Polymyalgia rheumatica False False False -Orphanet:93571 Dense deposit disease False False False -Orphanet:93573 Thrombotic microangiopathy False False False -Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies False False False -Orphanet:93583 Congenital thrombotic thrombocytopenic purpura False False False -Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura False False False -Orphanet:93587 Genetic cystic renal disease False False False -Orphanet:93589 Late-onset nephronophthisis False False False -Orphanet:93591 Infantile nephronophthisis False False False -Orphanet:93592 Juvenile nephronophthisis False False False -Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease False False False -Orphanet:93598 Primary hyperoxaluria type 1 False False False -Orphanet:93599 Primary hyperoxaluria type 2 False False False -Orphanet:93600 Primary hyperoxaluria type 3 False False False -Orphanet:93601 Xanthinuria type I False False False -Orphanet:93602 Xanthinuria type II False False False -Orphanet:93603 Rare renal tubular disease False False False -Orphanet:93605 Bartter syndrome type 3 False False False -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis False False False -Orphanet:93607 Autosomal recessive proximal renal tubular acidosis False False False -Orphanet:93608 Autosomal dominant distal renal tubular acidosis False False False -Orphanet:93610 Distal renal tubular acidosis with anemia False False False -Orphanet:93612 Cystinuria type A False False False -Orphanet:93613 Cystinuria type B False False False -Orphanet:93614 Hematological disorder with renal involvement False False False -Orphanet:93616 Hemoglobin H disease False False False -Orphanet:93618 Rare cause of hypertension False False False -Orphanet:93619 Rare renal tumor False False False -Orphanet:93622 Dent disease type 1 False False False -Orphanet:93623 Dent disease type 2 False False False -Orphanet:93626 Rare renal disease False False False -Orphanet:93665 Autoinflammatory syndrome False False False -Orphanet:93672 Juvenile dermatomyositis False False False -Orphanet:93685 Unicentric Castleman disease False False False -Orphanet:93890 Rare developmental defect during embryogenesis False False False -Orphanet:939 3-hydroxyisobutyric aciduria False False False -Orphanet:93921 Full schwannomatosis False False False -Orphanet:93924 Lobar holoprosencephaly False False False -Orphanet:93925 Alobar holoprosencephaly False False False -Orphanet:93926 Midline interhemispheric variant of holoprosencephaly False False False -Orphanet:93928 Isolated epispadias False False False -Orphanet:93929 Cloacal exstrophy False False False -Orphanet:93930 Bladder exstrophy False False False -Orphanet:93932 FG syndrome type 1 False False False -Orphanet:93938 Laryngotracheoesophageal cleft type 1 False False False -Orphanet:93939 Laryngotracheoesophageal cleft type 2 False False False -Orphanet:93940 Laryngotracheoesophageal cleft type 3 False False False -Orphanet:93941 Laryngotracheoesophageal cleft type 4 False False False -Orphanet:93945 X-linked intellectual disability, Porteous type False False False -Orphanet:93946 Hamel cerebro-palato-cardiac syndrome False False False -Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type False False False -Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type False False False -Orphanet:93952 X-linked intellectual disability, Hedera type False False False -Orphanet:93953 Familial thyroglossal duct cyst False False False -Orphanet:93958 Oromandibular dystonia False False False -Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome False False False -Orphanet:93969 Open spinal dysraphism with a myelomeningocele False False False -Orphanet:93976 Anotia False False False -Orphanet:94 Astrocytoma False False False -Orphanet:94056 Humero-ulnar synostosis False False False -Orphanet:94058 Neovascular glaucoma False False False -Orphanet:94063 12q14 microdeletion syndrome False False False -Orphanet:94064 Deafness-infertility syndrome False False False -Orphanet:94065 15q24 microdeletion syndrome False False False -Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia False False False -Orphanet:94068 Spondyloepiphyseal dysplasia congenita False False False -Orphanet:94075 Severe immune-mediated enteropathy False False False -Orphanet:94080 Non-functioning paraganglioma False False False -Orphanet:94083 Partington syndrome False False False -Orphanet:94086 Blue diaper syndrome False False False -Orphanet:94087 Cytophagic histiocytic panniculitis False False False -Orphanet:94088 Hereditary renal hypouricemia False False False -Orphanet:94089 Pseudohypoparathyroidism type 1B False False False -Orphanet:94090 Pseudohypoparathyroidism type 2 False False False -Orphanet:94091 Mills syndrome False False False -Orphanet:94093 Neuroleptic malignant syndrome False False False -Orphanet:941 D-glyceric aciduria False False False -Orphanet:94122 Cerebellar ataxia, Cayman type False False False -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 False False False -Orphanet:94125 Recessive mitochondrial ataxia syndrome False False False -Orphanet:94145 Autosomal dominant cerebellar ataxia type I False False False -Orphanet:94147 Spinocerebellar ataxia type 7 False False False -Orphanet:94148 Autosomal dominant cerebellar ataxia type III False False False -Orphanet:94149 Autosomal dominant cerebellar ataxia type IV False False False -Orphanet:94150 Anonychia congenita totalis False False False -Orphanet:943 Malonic aciduria False False False -Orphanet:945 Acalvaria False False False -Orphanet:949 Acrocraniofacial dysostosis False False False -Orphanet:95 Friedreich ataxia False False False -Orphanet:950 Acrodysostosis False False False -Orphanet:95157 Acute hepatic porphyria False False False -Orphanet:95159 Hepatoerythropoietic porphyria False False False -Orphanet:95161 Chronic hepatic porphyria False False False -Orphanet:952 Acrofacial dysostosis, Weyers type False False False -Orphanet:95232 Lissencephaly due to LIS1 mutation False False False -Orphanet:95409 Acute adrenal insufficiency False False False -Orphanet:95427 Secondary short bowel syndrome False False False -Orphanet:95428 COG8-CDG False False False -Orphanet:95429 Angioma serpiginosum False False False -Orphanet:95430 Congenital tracheomalacia False False False -Orphanet:95431 Twin to twin transfusion syndrome False False False -Orphanet:95432 Primary progressive aphasia False False False -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome False False False -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome False False False -Orphanet:95443 Mesocardia False False False -Orphanet:95448 Congenital aortic valve atresia False False False -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum False False False -Orphanet:95457 Tricuspid valve agenesis False False False -Orphanet:95459 Congenital tricuspid stenosis False False False -Orphanet:95461 Straddling or overriding tricuspid valve False False False -Orphanet:95462 Accessory tricuspid valve tissue False False False -Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus False False False -Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis False False False -Orphanet:95465 Cleft mitral valve False False False -Orphanet:95474 Double-orifice mitral valve False False False -Orphanet:95483 Univentricular cardiopathy False False False -Orphanet:95485 Arterial duct anomaly False False False -Orphanet:95486 Premature closure of the arterial duct False False False -Orphanet:95488 Non-acquired pituitary hormone deficiency False False False -Orphanet:95491 Congenital coronary artery aneurysm False False False -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms False False False -Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency False False False -Orphanet:95496 Pituitary stalk interruption syndrome False False False -Orphanet:95498 Congenital anomaly of superior vena cava False False False -Orphanet:95499 Congenital anomaly of the inferior vena cava False False False -Orphanet:955 Hajdu-Cheney syndrome False False False -Orphanet:95500 Congenital anomaly of the coronary sinus False False False -Orphanet:95502 Acquired pituitary hormone deficiency False False False -Orphanet:95503 Pituitary hormone deficiency of tumoral origin False False False -Orphanet:95505 Pituitary hormone deficiency of meningeal origin False False False -Orphanet:95506 Primary hypophysitis False False False -Orphanet:95507 Congenital anomaly of hepatic vein False False False -Orphanet:95510 Atrial appendage anomaly False False False -Orphanet:95512 Adenohypophysitis False False False -Orphanet:95513 Panhypophysitis False False False -Orphanet:95611 Pituitary hormone deficiency of vascular origin False False False -Orphanet:95613 Pituitary apoplexy False False False -Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease False False False -Orphanet:95618 Pituitary hormone deficiency secondary to storage disease False False False -Orphanet:95619 Post-traumatic pituitary deficiency False False False -Orphanet:95626 Acquired central diabetes insipidus False False False -Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency False False False -Orphanet:957 Acropectorovertebral dysplasia False False False -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone False False False -Orphanet:95702 X-linked adrenal hypoplasia congenita False False False -Orphanet:95706 Non-syndromic posterior hypospadias False False False -Orphanet:95707 Idiopathic isolated micropenis False False False -Orphanet:95708 Rare precocious puberty False False False -Orphanet:95709 Acquired premature ovarian failure False False False -Orphanet:95710 Non-acquired premature ovarian failure False False False -Orphanet:95711 Congenital hypothyroidism due to developmental anomaly False False False -Orphanet:95712 Thyroid ectopia False False False -Orphanet:95713 Athyreosis False False False -Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly False False False -Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies False False False -Orphanet:95716 Familial thyroid dyshormonogenesis False False False -Orphanet:95717 Idiopathic congenital hypothyroidism False False False -Orphanet:95718 Congenital thyroid malformation without hypothyroidism False False False -Orphanet:95719 Thyroid hemiagenesis False False False -Orphanet:95720 Thyroid hypoplasia False False False -Orphanet:958 Acro-renal-mandibular syndrome False False False -Orphanet:95854 Levocardia False False False -Orphanet:959 Acro-renal-ocular syndrome False False False -Orphanet:96 Ataxia with vitamin E deficiency False False False -Orphanet:96055 Tetrasomy 21 False False False -Orphanet:96059 Mosaic trisomy 4 False False False -Orphanet:96060 Mosaic trisomy 5 False False False -Orphanet:96061 Mosaic trisomy 8 False False False -Orphanet:96063 Mosaic trisomy 10 False False False -Orphanet:96068 Mosaic trisomy 22 False False False -Orphanet:96069 Distal duplication 1p36 False False False -Orphanet:96070 Distal duplication 2p False False False -Orphanet:96071 Distal duplication 3p False False False -Orphanet:96072 4p16.3 microduplication syndrome False False False -Orphanet:96074 Distal duplication 7p False False False -Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication False False False -Orphanet:96078 16p13.3 microduplication syndrome False False False -Orphanet:96092 8p inverted duplication/deletion syndrome False False False -Orphanet:96094 Distal duplication 2q False False False -Orphanet:96095 3q26 microduplication syndrome False False False -Orphanet:96096 Distal duplication 4q False False False -Orphanet:96097 Distal duplication 5q False False False -Orphanet:96098 Distal duplication 6q False False False -Orphanet:96100 Distal duplication 8q False False False -Orphanet:96101 Distal duplication 9q False False False -Orphanet:96102 Distal duplication 10q False False False -Orphanet:96103 Distal duplication 11q False False False -Orphanet:96105 Distal duplication 13q False False False -Orphanet:96106 Distal duplication 16q False False False -Orphanet:96107 Distal duplication 20q False False False -Orphanet:96109 Distal duplication 22q False False False -Orphanet:96112 Non-distal duplication 9q False False False -Orphanet:96121 7q11.23 microduplication syndrome False False False -Orphanet:96123 Monosomy 22 False False False -Orphanet:96125 Distal deletion 6p False False False -Orphanet:96126 Distal deletion 7p False False False -Orphanet:96129 Distal deletion 19p False False False -Orphanet:96145 Distal deletion 4q False False False -Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion False False False -Orphanet:96148 Distal deletion 10q False False False -Orphanet:96149 Distal deletion 12q False False False -Orphanet:96150 Distal deletion 14q False False False -Orphanet:96160 Non-distal deletion 12q False False False -Orphanet:96167 Recombinant 8 syndrome False False False -Orphanet:96168 Monosomy 13q34 False False False -Orphanet:96169 Koolen-De Vries syndrome False False False -Orphanet:96170 Emanuel syndrome False False False -Orphanet:96171 Ring chromosome 2 syndrome False False False -Orphanet:96172 Ring chromosome 3 syndrome False False False -Orphanet:96173 Ring chromosome 9 syndrome False False False -Orphanet:96175 Ring chromosome 11 syndrome False False False -Orphanet:96176 Ring chromosome 13 syndrome False False False -Orphanet:96177 Ring chromosome 15 syndrome False False False -Orphanet:96178 Ring chromosome 16 syndrome False False False -Orphanet:96179 Maternal uniparental disomy of chromosome 2 False False False -Orphanet:96180 Maternal uniparental disomy of chromosome 4 False False False -Orphanet:96181 Maternal uniparental disomy of chromosome 6 False False False -Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 False False False -Orphanet:96183 Maternal uniparental disomy of chromosome 9 False False False -Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 False False False -Orphanet:96185 Maternal uniparental disomy of chromosome 16 False False False -Orphanet:96186 Maternal uniparental disomy of chromosome 20 False False False -Orphanet:96187 Maternal uniparental disomy of chromosome 21 False False False -Orphanet:96188 Maternal uniparental disomy of chromosome 22 False False False -Orphanet:96190 Paternal uniparental disomy of chromosome 5 False False False -Orphanet:96191 Paternal uniparental disomy of chromosome 6 False False False -Orphanet:96192 Paternal uniparental disomy of chromosome 7 False False False -Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 False False False -Orphanet:96194 Paternal uniparental disomy of chromosome 20 False False False -Orphanet:96195 Paternal uniparental disomy of chromosome 21 False False False -Orphanet:96201 X small rings False False False -Orphanet:96210 Rare genetic deafness False False False -Orphanet:96253 Cushing disease False False False -Orphanet:96256 Somatotropic adenoma False False False -Orphanet:96263 48,XXXY syndrome False False False -Orphanet:96264 49,XXXXY syndrome False False False -Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance False False False -Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance False False False -Orphanet:96269 Isolated partial vaginal agenesis False False False -Orphanet:963 Acromegaly False False False -Orphanet:96321 Polyploidy False False False -Orphanet:96325 Isochromosome Y False False False -Orphanet:96333 Rare otorhinolaryngological malformation False False False -Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 False False False -Orphanet:96344 Rare gynecologic or obstetric disease False False False -Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type False False False -Orphanet:969 Acromicric dysplasia False False False -Orphanet:97 Familial paroxysmal ataxia False False False -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 False False False -Orphanet:971 Acrorenal syndrome False False False -Orphanet:97120 Distal arthrogryposis False False False -Orphanet:972 Hereditary continuous muscle fiber activity False False False -Orphanet:97214 Eisenmenger syndrome False False False -Orphanet:97229 Riboflavin transporter deficiency False False False -Orphanet:97230 Solar urticaria False False False -Orphanet:97232 Fingerprint body myopathy False False False -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency False False False -Orphanet:97238 Rippling muscle disease False False False -Orphanet:97239 Reducing body myopathy False False False -Orphanet:97240 Zebra body myopathy False False False -Orphanet:97242 Congenital muscular dystrophy False False False -Orphanet:97244 Rigid spine syndrome False False False -Orphanet:97245 Congenital myopathy False False False -Orphanet:97249 Pontocerebellar hypoplasia type 3 False False False -Orphanet:97252 Mega-cisterna magna False False False -Orphanet:97253 Neuroendocrine tumor of pancreas False False False -Orphanet:97261 GRFoma False False False -Orphanet:97275 Encephalitis False False False -Orphanet:97278 PPoma False False False -Orphanet:97279 Insulinoma False False False -Orphanet:97280 Glucagonoma False False False -Orphanet:97282 VIPoma False False False -Orphanet:97283 Somatostatinoma False False False -Orphanet:97285 Thyroid lymphoma False False False -Orphanet:97286 Carney-Stratakis syndrome False False False -Orphanet:97287 Bronchial neuroendocrine tumor False False False -Orphanet:97289 Thymic neuroendocrine tumor False False False -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia False False False -Orphanet:97293 Rare benign ovarian tumor False False False -Orphanet:97297 Bohring-Opitz syndrome False False False -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral False False False -Orphanet:97330 Thoracic outlet syndrome False False False -Orphanet:97332 Kienbock disease False False False -Orphanet:97335 Osgood-Schlatter disease False False False -Orphanet:97336 Panner disease False False False -Orphanet:97337 Sinding-Larsen-Johansson disease False False False -Orphanet:97338 Melanoma of soft tissue False False False -Orphanet:97339 Dural sinus malformation False False False -Orphanet:97340 Hunter-McAlpine syndrome False False False -Orphanet:97341 Persistent placoid maculopathy False False False -Orphanet:97345 ABri amyloidosis False False False -Orphanet:97346 ADan amyloidosis False False False -Orphanet:97349 Postencephalitic parkinsonism False False False -Orphanet:97352 Pellagra False False False -Orphanet:97353 Dementia pugilistica False False False -Orphanet:97355 Caribbean parkinsonism False False False -Orphanet:97360 Robinow syndrome False False False -Orphanet:97361 Renal hypoplasia, unilateral False False False -Orphanet:97362 Renal hypoplasia, bilateral False False False -Orphanet:97363 Unilateral multicystic dysplastic kidney False False False -Orphanet:97364 Bilateral multicystic dysplastic kidney False False False -Orphanet:97366 Multiloculated renal cyst False False False -Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion False False False -Orphanet:97368 Drug-related renal tubular dysgenesis False False False -Orphanet:97369 Renal tubular dysgenesis of genetic origin False False False -Orphanet:974 Adams-Oliver syndrome False False False -Orphanet:97548 Right sided atrial isomerism False False False -Orphanet:97560 Primary membranous glomerulonephritis False False False -Orphanet:97563 Pauci-immune glomerulonephritis with ANCA False False False -Orphanet:97564 Pauci-immune glomerulonephritis without ANCA False False False -Orphanet:97566 Non-amyloid fibrillary glomerulopathy False False False -Orphanet:97567 Immunotactoid glomerulopathy False False False -Orphanet:97593 Pseudohypoparathyroidism False False False -Orphanet:97598 Congenital renal artery stenosis False False False -Orphanet:976 Adenine phosphoribosyltransferase deficiency False False False -Orphanet:97678 Maternal uniparental disomy of chromosome 13 False False False -Orphanet:97685 17q11 microdeletion syndrome False False False -Orphanet:977 Adrenomyodystrophy False False False -Orphanet:978 ADULT syndrome False False False -Orphanet:97929 Rare cardiac disease False False False -Orphanet:97935 Rare gastroenterologic disease False False False -Orphanet:97944 Gastroduodenal malformation False False False -Orphanet:97955 Rare respiratory disease False False False -Orphanet:97957 Respiratory or thoracic malformation False False False -Orphanet:97962 Rare surgical thoracic disease False False False -Orphanet:97965 Rare surgical cardiac disease False False False -Orphanet:97966 Rare ophthalmic disorder False False False -Orphanet:97978 Rare endocrine disease False False False -Orphanet:97992 Rare hematologic disease False False False -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay False False False -Orphanet:980 Absence of the pulmonary artery False False False -Orphanet:98004 Rare immune disease False False False -Orphanet:98006 Rare neurologic disease False False False -Orphanet:98010 Infectious disease of the nervous system False False False -Orphanet:98022 Rare headache False False False -Orphanet:98023 Rare systemic or rheumatologic disease False False False -Orphanet:98026 Rare odontologic disease False False False -Orphanet:98027 Rare disease with odontological manifestation False False False -Orphanet:98028 Rare circulatory system disease False False False -Orphanet:98033 Rare neurologic disease with psychiatric involvement False False False -Orphanet:98036 Rare otorhinolaryngologic disease False False False -Orphanet:98038 Cranial malformation False False False -Orphanet:98039 Digestive tract malformation False False False -Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen False False False -Orphanet:98043 Diaphragmatic or abdominal wall malformation False False False -Orphanet:98044 Central nervous system malformation False False False -Orphanet:98045 Respiratory or mediastinal malformation False False False -Orphanet:98047 Rare infertility False False False -Orphanet:98048 Rare male infertility False False False -Orphanet:98049 Rare female infertility False False False -Orphanet:98050 Rare allergic disease False False False -Orphanet:98052 Rare allergic respiratory disease False False False -Orphanet:98053 Rare genetic disease False False False -Orphanet:98054 Rare genetic cardiac disease False False False -Orphanet:98056 Rare genetic renal disease False False False -Orphanet:98057 Rare tumor False False False -Orphanet:98058 Rare urinary tract tumor False False False -Orphanet:98059 Rare digestive tumor False False False -Orphanet:98060 Rare respiratory tumor False False False -Orphanet:98061 Rare otorhinolaryngologic tumor False False False -Orphanet:98062 Rare nervous system tumor False False False -Orphanet:98063 Rare gynecological tumor False False False -Orphanet:98074 Gonadal dysgenesis of gynecological interest False False False -Orphanet:98078 46,XX difference of sex development induced by androgens excess False False False -Orphanet:98085 46,XY difference of sex development False False False -Orphanet:98087 Syndrome with 46,XY difference of sex development False False False -Orphanet:98095 Autosomal recessive congenital cerebellar ataxia False False False -Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia False False False -Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect False False False -Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia False False False -Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia False False False -Orphanet:981 Internal carotid absence False False False -Orphanet:98127 Autosomal anomaly False False False -Orphanet:98130 Autosomal trisomy False False False -Orphanet:98131 Total autosomal trisomy False False False -Orphanet:98132 Partial autosomal duplication/triplication False False False -Orphanet:98141 Total autosomal monosomy False False False -Orphanet:98142 Partial autosomal deletion False False False -Orphanet:98152 Autosomal uniparental disomy False False False -Orphanet:98153 Maternal uniparental disomy False False False -Orphanet:98154 Paternal uniparental disomy False False False -Orphanet:98155 Sex-chromosome anomaly False False False -Orphanet:98156 Sex-chromosome number anomaly False False False -Orphanet:98157 Sex-chromosome structural anomaly False False False -Orphanet:98158 Chromosome Y structural anomaly False False False -Orphanet:98159 Chromosome X structural anomaly False False False -Orphanet:98196 Malformation syndrome with hamartosis False False False -Orphanet:982 Pulmonary valve agenesis False False False -Orphanet:98203 Combined dystonia False False False -Orphanet:98249 Ehlers-Danlos syndrome False False False -Orphanet:98252 Infectious encephalitis False False False -Orphanet:98255 Chronic encephalitis False False False -Orphanet:98257 Neonatal epilepsy syndrome False False False -Orphanet:98258 Infantile epilepsy syndrome False False False -Orphanet:98259 Childhood-onset epilepsy syndrome False False False -Orphanet:98260 Adolescent-onset epilepsy syndrome False False False -Orphanet:98261 Progressive myoclonic epilepsy False False False -Orphanet:98267 Genetic non-syndromic obesity False False False -Orphanet:98292 Mastocytosis False False False -Orphanet:983 Testicular regression syndrome False False False -Orphanet:98301 Laminopathy False False False -Orphanet:98305 Genetic lipodystrophy False False False -Orphanet:98306 Familial partial lipodystrophy False False False -Orphanet:98307 Acquired lipodystrophy False False False -Orphanet:98313 Male infertility due to gonadal dysgenesis False False False -Orphanet:98343 Male infertility due to obstructive azoospermia False False False -Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma False False False -Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature False False False -Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature False False False -Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma False False False -Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature False False False -Orphanet:98360 Constitutional anemia due to iron metabolism disorder False False False -Orphanet:98362 Constitutional sideroblastic anemia False False False -Orphanet:98363 Rare hemolytic anemia False False False -Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly False False False -Orphanet:98365 Hereditary stomatocytosis False False False -Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis False False False -Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder False False False -Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies False False False -Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes False False False -Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder False False False -Orphanet:98375 Autoimmune hemolytic anemia False False False -Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder False False False -Orphanet:984 Pulmonary agenesis False False False -Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder False False False -Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia False False False -Orphanet:98427 Polycythemia False False False -Orphanet:98428 Secondary polycythemia False False False -Orphanet:98429 Rare coagulation disorder False False False -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors False False False -Orphanet:98455 Alpha granule disease False False False -Orphanet:98456 Dense granule disease False False False -Orphanet:98472 Skeletal muscle disease False False False -Orphanet:98473 Muscular dystrophy False False False -Orphanet:98482 Idiopathic inflammatory myopathy False False False -Orphanet:98486 Metabolic myopathy False False False -Orphanet:98491 Neuromuscular junction disease False False False -Orphanet:98494 Acquired neuromuscular junction disease False False False -Orphanet:98496 Rare peripheral neuropathy False False False -Orphanet:98497 Genetic peripheral neuropathy False False False -Orphanet:98503 Motor neuron disease False False False -Orphanet:98505 Genetic motor neuron disease False False False -Orphanet:98506 Acquired motor neuron disease False False False -Orphanet:98514 Malformation of the cerebellar vermis False False False -Orphanet:98516 Malformation of the cerebellar hemispheres False False False -Orphanet:98518 Cranial nerve and nuclear aplasia False False False -Orphanet:98519 Posterior fossa malformation False False False -Orphanet:98523 Non-syndromic pontocerebellar hypoplasia False False False -Orphanet:98534 Neurodegenerative disease with dementia False False False -Orphanet:98535 Frontotemporal degeneration with dementia False False False -Orphanet:98538 Ataxia with dementia False False False -Orphanet:98539 Early-onset ataxia with dementia False False False -Orphanet:98540 Late-onset ataxia with dementia False False False -Orphanet:98542 Infectious disease with dementia False False False -Orphanet:98543 Metabolic disease with dementia False False False -Orphanet:98544 Cerebral lipidosis with dementia False False False -Orphanet:98549 Rare cerebrovascular dementia False False False -Orphanet:98553 Developmental defect of the eye False False False -Orphanet:98557 Syndromic aniridia False False False -Orphanet:98560 Rare palpebral disorder False False False -Orphanet:98561 Congenital malformation of the eyelid False False False -Orphanet:98562 Cryptophthalmia False False False -Orphanet:98563 Microblepharon-ablephara syndrome False False False -Orphanet:98564 Eyelid border anomaly False False False -Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum False False False -Orphanet:98566 Syndromic eyelid coloboma False False False -Orphanet:98567 Rare eyelid malposition disorder False False False -Orphanet:98570 Congenital ectropion False False False -Orphanet:98571 Secondary ectropion False False False -Orphanet:98574 Syndromic epicanthus False False False -Orphanet:98575 Syndromic telecanthus False False False -Orphanet:98576 Syndromic outer canthal malposition False False False -Orphanet:98578 Rare disorder with ptosis False False False -Orphanet:98594 Rare eyebrow/eyelash disorder False False False -Orphanet:98602 Rare disorder of the lacrimal apparatus False False False -Orphanet:98604 Congenital alacrima False False False -Orphanet:98605 Lacrimal drainage system anomaly False False False -Orphanet:98606 Syndromic orbital border hypoplasia False False False -Orphanet:98609 EEC syndrome and related disorders False False False -Orphanet:98610 Rare disorder with conjunctival involvement as a major feature False False False -Orphanet:98618 Rare refraction anomaly False False False -Orphanet:98619 Rare isolated myopia False False False -Orphanet:98621 Rare hyperopia and astigmatism False False False -Orphanet:98622 Syndromic hyperopia False False False -Orphanet:98623 Syndromic keratoconus False False False -Orphanet:98625 Superficial corneal dystrophy False False False -Orphanet:98626 Stromal corneal dystrophy False False False -Orphanet:98627 Posterior corneal dystrophy False False False -Orphanet:98628 Syndromic corneal dystrophy False False False -Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature False False False -Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations False False False -Orphanet:98635 Corneodysgenesis False False False -Orphanet:98638 Rare disease with glaucoma as a major feature False False False -Orphanet:98639 Rare lens disease False False False -Orphanet:98640 Rare disorder with lens opacification False False False -Orphanet:98641 Syndromic cataract False False False -Orphanet:98642 Chromosomal anomaly with cataract False False False -Orphanet:98644 Metabolic disease with cataract False False False -Orphanet:98646 Renal disease with cataract False False False -Orphanet:98648 Musculoskeletal disease with cataract False False False -Orphanet:98649 Dentocutaneous disease with cataract False False False -Orphanet:98650 Craniofacial anomaly with cataract False False False -Orphanet:98652 Lens size anomaly False False False -Orphanet:98653 Lens position anomaly False False False -Orphanet:98655 Lens shape anomaly False False False -Orphanet:98658 Color-vision disease False False False -Orphanet:98661 Syndromic rod-cone dystrophy False False False -Orphanet:98668 Vitreoretinopathy False False False -Orphanet:98671 Hereditary optic neuropathy False False False -Orphanet:98672 Autosomal dominant optic atrophy False False False -Orphanet:98673 Autosomal dominant optic atrophy, classic form False False False -Orphanet:98676 Autosomal recessive isolated optic atrophy False False False -Orphanet:98681 Rare disorder with strabismus False False False -Orphanet:98683 Syndromic disorder with strabismus False False False -Orphanet:98684 Craniostenosis with strabismus False False False -Orphanet:98685 Rare oculomotor nerve disorder False False False -Orphanet:98686 Congenital trochlear nerve palsy False False False -Orphanet:98687 Supranuclear eye movement disorder False False False -Orphanet:98688 Oculomotor apraxia False False False -Orphanet:98706 Oculocutaneous or ocular albinism False False False -Orphanet:98715 Uveitis False False False -Orphanet:98716 Heart position anomaly False False False -Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly False False False -Orphanet:98718 Aortic malformation False False False -Orphanet:98719 Pulmonary artery or pulmonary branch anomaly False False False -Orphanet:98720 Atrioventricular valve anomaly False False False -Orphanet:98721 Congenital tricuspid malformation False False False -Orphanet:98722 Atrioventricular septal defect False False False -Orphanet:98723 Hypoplastic right heart syndrome False False False -Orphanet:98724 Congenital anomaly of the great arteries False False False -Orphanet:98725 Ascending aorta anomaly False False False -Orphanet:98727 Rare atrial defect and interatrial communication False False False -Orphanet:98729 Congenital pulmonary veins anomaly False False False -Orphanet:98731 Congenital arteriovenous fistula False False False -Orphanet:98733 Noonan syndrome and Noonan-related syndrome False False False -Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect False False False -Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect False False False -Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect False False False -Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect False False False -Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect False False False -Orphanet:98743 Genetic neurological channelopathy of the central nervous system False False False -Orphanet:98750 Autoimmune neurological channelopathy False False False -Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 False False False -Orphanet:98755 Spinocerebellar ataxia type 1 False False False -Orphanet:98756 Spinocerebellar ataxia type 2 False False False -Orphanet:98757 Spinocerebellar ataxia type 3 False False False -Orphanet:98758 Spinocerebellar ataxia type 6 False False False -Orphanet:98759 Spinocerebellar ataxia type 17 False False False -Orphanet:98760 Spinocerebellar ataxia type 8 False False False -Orphanet:98761 Spinocerebellar ataxia type 10 False False False -Orphanet:98762 Spinocerebellar ataxia type 12 False False False -Orphanet:98763 Spinocerebellar ataxia type 14 False False False -Orphanet:98764 Spinocerebellar ataxia type 27 False False False -Orphanet:98765 Spinocerebellar ataxia type 4 False False False -Orphanet:98766 Spinocerebellar ataxia type 5 False False False -Orphanet:98767 Spinocerebellar ataxia type 11 False False False -Orphanet:98768 Spinocerebellar ataxia type 13 False False False -Orphanet:98769 Spinocerebellar ataxia type 15/16 False False False -Orphanet:98771 Spinocerebellar ataxia type 18 False False False -Orphanet:98772 Spinocerebellar ataxia type 19/22 False False False -Orphanet:98773 Spinocerebellar ataxia type 21 False False False -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy False False False -Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 False False False -Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion False False False -Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion False False False -Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 False False False -Orphanet:98797 Isochromosomy Yp False False False -Orphanet:98798 Isochromosomy Yq False False False -Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome False False False -Orphanet:98805 Primary dystonia, DYT4 type False False False -Orphanet:98806 Primary dystonia, DYT6 type False False False -Orphanet:98807 Primary dystonia, DYT13 type False False False -Orphanet:98808 Autosomal dominant dopa-responsive dystonia False False False -Orphanet:98809 Paroxysmal kinesigenic dyskinesia False False False -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia False False False -Orphanet:98811 Paroxysmal exertion-induced dyskinesia False False False -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency False False False -Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type False False False -Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type False False False -Orphanet:98818 Landau-Kleffner syndrome False False False -Orphanet:98819 Familial temporal lobe epilepsy False False False -Orphanet:98820 Familial focal epilepsy with variable foci False False False -Orphanet:98823 Chronic myelomonocytic leukemia False False False -Orphanet:98824 Atypical chronic myeloid leukemia False False False -Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease False False False -Orphanet:98826 Refractory anemia False False False -Orphanet:98827 Unclassified myelodysplastic syndrome False False False -Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) False False False -Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities False False False -Orphanet:98832 Acute myeloid leukemia with minimal differentiation False False False -Orphanet:98833 Acute myeloblastic leukemia without maturation False False False -Orphanet:98834 Acute myeloblastic leukemia with maturation False False False -Orphanet:98835 Acute undifferentiated leukemia False False False -Orphanet:98838 Primary mediastinal large B-cell lymphoma False False False -Orphanet:98839 Intravascular large B-cell lymphoma False False False -Orphanet:98841 Anaplastic large cell lymphoma False False False -Orphanet:98842 Lymphomatoid papulosis False False False -Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type False False False -Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type False False False -Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type False False False -Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type False False False -Orphanet:98848 Indolent systemic mastocytosis False False False -Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm False False False -Orphanet:98850 Aggressive systemic mastocytosis False False False -Orphanet:98851 Mast cell leukemia False False False -Orphanet:98852 Desquamative interstitial pneumonia False False False -Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy False False False -Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy False False False -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 False False False -Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy False False False -Orphanet:98868 Southeast Asian ovalocytosis False False False -Orphanet:98869 Congenital dyserythropoietic anemia type I False False False -Orphanet:98870 Congenital dyserythropoietic anemia type III False False False -Orphanet:98871 Transient erythroblastopenia of childhood False False False -Orphanet:98872 Primary acquired pure red cell aplasia False False False -Orphanet:98873 Congenital dyserythropoietic anemia type II False False False -Orphanet:98878 Hemophilia A False False False -Orphanet:98879 Hemophilia B False False False -Orphanet:98880 Familial afibrinogenemia False False False -Orphanet:98881 Familial dysfibrinogenemia False False False -Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency False False False -Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency False False False -Orphanet:98888 X-linked complex spastic paraplegia False False False -Orphanet:98889 Bilateral perisylvian polymicrogyria False False False -Orphanet:98890 Early-onset X-linked optic atrophy False False False -Orphanet:98892 Periventricular nodular heterotopia False False False -Orphanet:98893 Congenital muscular dystrophy type 1B False False False -Orphanet:98895 Becker muscular dystrophy False False False -Orphanet:98896 Duchenne muscular dystrophy False False False -Orphanet:98897 Oculopharyngodistal myopathy False False False -Orphanet:989 Hypoglossia-hypodactyly syndrome False False False -Orphanet:98902 Amish nemaline myopathy False False False -Orphanet:98904 Congenital myopathy with excess of thin filaments False False False -Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia False False False -Orphanet:98907 Neutral lipid storage disease with ichthyosis False False False -Orphanet:98908 Neutral lipid storage myopathy False False False -Orphanet:98909 Desminopathy False False False -Orphanet:98910 Alpha-crystallinopathy False False False -Orphanet:98911 Distal myotilinopathy False False False -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type False False False -Orphanet:98913 Postsynaptic congenital myasthenic syndromes False False False -Orphanet:98914 Presynaptic congenital myasthenic syndromes False False False -Orphanet:98915 Synaptic congenital myasthenic syndromes False False False -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy False False False -Orphanet:98917 Acute motor and sensory axonal neuropathy False False False -Orphanet:98918 Acute motor axonal neuropathy False False False -Orphanet:98919 Miller Fisher syndrome False False False -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 False False False -Orphanet:98922 Blake pouch cyst False False False -Orphanet:98933 Multiple system atrophy, parkinsonian type False False False -Orphanet:98934 Huntington disease-like 2 False False False -Orphanet:98938 Colobomatous microphthalmia False False False -Orphanet:98942 Coloboma of choroid and retina False False False -Orphanet:98943 Coloboma of eye lens False False False -Orphanet:98944 Coloboma of iris False False False -Orphanet:98945 Coloboma of macula False False False -Orphanet:98946 Coloboma of eyelid False False False -Orphanet:98947 Coloboma of optic disc False False False -Orphanet:98948 Congenital symblepharon False False False -Orphanet:98949 Complete cryptophthalmia False False False -Orphanet:98950 Partial cryptophthalmia False False False -Orphanet:98951 Inverse Marcus-Gunn phenomenon False False False -Orphanet:98954 Meesmann corneal dystrophy False False False -Orphanet:98955 Lisch epithelial corneal dystrophy False False False -Orphanet:98956 Epithelial basement membrane dystrophy False False False -Orphanet:98957 Gelatinous drop-like corneal dystrophy False False False -Orphanet:98958 Climatic droplet keratopathy False False False -Orphanet:98959 Subepithelial mucinous corneal dystrophy False False False -Orphanet:98960 Thiel-Behnke corneal dystrophy False False False -Orphanet:98961 Reis-Bücklers corneal dystrophy False False False -Orphanet:98962 Granular corneal dystrophy type I False False False -Orphanet:98963 Granular corneal dystrophy type II False False False -Orphanet:98964 Lattice corneal dystrophy type I False False False -Orphanet:98967 Schnyder corneal dystrophy False False False -Orphanet:98969 Macular corneal dystrophy False False False -Orphanet:98970 Fleck corneal dystrophy False False False -Orphanet:98971 Posterior amorphous corneal dystrophy False False False -Orphanet:98972 Central cloudy dystrophy of François False False False -Orphanet:98973 Posterior polymorphous corneal dystrophy False False False -Orphanet:98974 Fuchs endothelial corneal dystrophy False False False -Orphanet:98975 Congenital hereditary endothelial dystrophy type I False False False -Orphanet:98976 Congenital glaucoma False False False -Orphanet:98977 Juvenile glaucoma False False False -Orphanet:98978 Axenfeld anomaly False False False -Orphanet:98979 Chandler syndrome False False False -Orphanet:98980 Cogan-Reese syndrome False False False -Orphanet:98981 Essential iris atrophy False False False -Orphanet:98984 Pulverulent cataract False False False -Orphanet:98985 Early-onset sutural cataract False False False -Orphanet:98988 Early-onset anterior polar cataract False False False -Orphanet:98989 Cerulean cataract False False False -Orphanet:98990 Coralliform cataract False False False -Orphanet:98991 Early-onset nuclear cataract False False False -Orphanet:98992 Early-onset partial cataract False False False -Orphanet:98993 Early-onset posterior polar cataract False False False -Orphanet:98994 Total early-onset cataract False False False -Orphanet:98995 Early-onset zonular cataract False False False -Orphanet:99 Autosomal dominant cerebellar ataxia False False False -Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome False False False -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy False False False -Orphanet:99001 Butterfly-shaped pigment dystrophy False False False -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium False False False -Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus False False False -Orphanet:99004 Fundus pulverulentus False False False -Orphanet:99013 Spastic paraplegia type 7 False False False -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 False False False -Orphanet:99015 Spastic paraplegia type 2 False False False -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy False False False -Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation False False False -Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis False False False -Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect False False False -Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect False False False -Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome False False False -Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus False False False -Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta False False False -Orphanet:99051 Discrete fixed membranous subaortic stenosis False False False -Orphanet:99052 Discrete fibromuscular subaortic stenosis False False False -Orphanet:99053 Tunnel subaortic stenosis False False False -Orphanet:99054 Valvular pulmonary stenosis False False False -Orphanet:99055 Congenital anomaly of the tricuspid valve chordae False False False -Orphanet:99056 Parachute tricuspid valve False False False -Orphanet:99057 Congenital mitral stenosis False False False -Orphanet:99058 Hypoplasia of the mitral valve annulus False False False -Orphanet:99059 Congenital supravalvular mitral ring False False False -Orphanet:99060 Congenital unguarded mitral orifice False False False -Orphanet:99061 Accessory mitral valve tissue False False False -Orphanet:99062 Mitral valve agenesis False False False -Orphanet:99063 Shone complex False False False -Orphanet:99064 Straddling and/or overriding mitral valve False False False -Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia False False False -Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot False False False -Orphanet:99070 Aorto-right ventricular tunnel False False False -Orphanet:99071 Aorto-left ventricular tunnel False False False -Orphanet:99072 Congenital patent ductus arteriosus aneurysm False False False -Orphanet:99075 Encircling double aortic arch False False False -Orphanet:99076 Persistent fifth aortic arch False False False -Orphanet:99077 Kommerell diverticulum False False False -Orphanet:99078 Neuhauser anomaly False False False -Orphanet:99079 Cervical aortic arch False False False -Orphanet:99081 Right aortic arch False False False -Orphanet:99082 Dysphagia lusoria False False False -Orphanet:99083 Pulmonary artery hypoplasia False False False -Orphanet:99084 Peripheral pulmonary stenosis False False False -Orphanet:99087 Coronary ostial stenosis or atresia False False False -Orphanet:99089 Abnormal number of coronary ostia False False False -Orphanet:99090 Malposition of a coronary ostium False False False -Orphanet:99092 Interventricular septum aneurysm False False False -Orphanet:99094 Laubry-Pezzi syndrome False False False -Orphanet:99095 Congenital Gerbode defect False False False -Orphanet:99098 Cor triatriatum dexter False False False -Orphanet:99099 Cor triatriatum sinister False False False -Orphanet:991 PAGOD syndrome False False False -Orphanet:99100 Juxtaposition of the atrial appendages False False False -Orphanet:99101 Ectasia of the right atrial appendage False False False -Orphanet:99102 Ectasia of the left atrial appendage False False False -Orphanet:99103 Atrial septal defect, ostium secundum type False False False -Orphanet:99104 Atrial septal defect, coronary sinus type False False False -Orphanet:99105 Atrial septal defect, sinus venosus type False False False -Orphanet:99106 Atrial septal defect, ostium primum type False False False -Orphanet:99107 Atrial septal aneurysm False False False -Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium False False False -Orphanet:99110 Right superior vena cava connecting to left-sided atrium False False False -Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium False False False -Orphanet:99112 Absence of innominate vein False False False -Orphanet:99113 Subaortic course of innominate vein False False False -Orphanet:99114 Agenesis of the superior vena cava False False False -Orphanet:99117 Coronary sinus stenosis False False False -Orphanet:99118 Coronary sinus atresia False False False -Orphanet:99119 Right inferior vena cava connecting to left-sided atrium False False False -Orphanet:99120 Persistent eustachian valve False False False -Orphanet:99121 Azygos continuation of the inferior vena cava False False False -Orphanet:99122 Congenital stenosis of the inferior vena cava False False False -Orphanet:99123 Inferior vena cava interruption without azygos continuation False False False -Orphanet:99124 Congenital partial pulmonary venous return anomaly False False False -Orphanet:99125 Congenital total pulmonary venous return anomaly False False False -Orphanet:99126 Congenital pulmonary vein atresia False False False -Orphanet:99129 Congenital complete agenesis of pericardium False False False -Orphanet:99130 Congenital partial agenesis of pericardium False False False -Orphanet:99131 Pleuro-pericardial cyst False False False -Orphanet:99135 6-phosphogluconate dehydrogenase deficiency False False False -Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction False False False -Orphanet:99139 Unstable hemoglobin disease False False False -Orphanet:99141 Lymphedema-posterior choanal atresia syndrome False False False -Orphanet:99147 Acquired von Willebrand syndrome False False False -Orphanet:99169 Epiblepharon False False False -Orphanet:99170 Tarsal kink syndrome False False False -Orphanet:99171 Isolated congenital ectropion False False False -Orphanet:99172 Euryblepharon False False False -Orphanet:99176 Congenital eyelid retraction False False False -Orphanet:99177 Isolated distichiasis False False False -Orphanet:99179 Kandori fleck retina False False False -Orphanet:99226 Monosomy X False False False -Orphanet:99228 Mosaic monosomy X False False False -Orphanet:99324 Paternal uniparental disomy of chromosome 13 False False False -Orphanet:99329 48,XYYY syndrome False False False -Orphanet:99330 49,XYYYY syndrome False False False -Orphanet:99361 Familial medullary thyroid carcinoma False False False -Orphanet:994 Fetal akinesia deformation sequence False False False -Orphanet:99408 Pituitary adenoma False False False -Orphanet:99413 Turner syndrome due to structural X chromosome anomalies False False False -Orphanet:99429 Complete androgen insensitivity syndrome False False False -Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type False False False -Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria False False False -Orphanet:99647 Cheirospondyloenchondromatosis False False False -Orphanet:99657 Primary dystonia, DYT2 type False False False -Orphanet:99672 Fried's tooth and nail syndrome False False False -Orphanet:99688 Dermotrichic syndrome False False False -Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis False False False -Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome False False False -Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation False False False -Orphanet:99718 Leber plus disease False False False -Orphanet:99725 Pituitary gigantism False False False -Orphanet:99731 Isolated sulfite oxidase deficiency False False False -Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency False False False -Orphanet:99734 Myotonia fluctuans False False False -Orphanet:99735 Myotonia permanens False False False -Orphanet:99736 Acetazolamide-responsive myotonia False False False -Orphanet:99741 King-Denborough syndrome False False False -Orphanet:99742 Amish lethal microcephaly False False False -Orphanet:99745 Typhoid False False False -Orphanet:99748 Pontiac fever False False False -Orphanet:99749 Kostmann syndrome False False False -Orphanet:99750 Atypical progressive supranuclear palsy syndrome False False False -Orphanet:99756 Alveolar rhabdomyosarcoma False False False -Orphanet:99757 Embryonal rhabdomyosarcoma False False False -Orphanet:99771 Bifid uvula False False False -Orphanet:99772 Cleft velum False False False -Orphanet:99776 Mosaic trisomy 9 False False False -Orphanet:99789 Dentin dysplasia type I False False False -Orphanet:99791 Dentin dysplasia type II False False False -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome False False False -Orphanet:99796 Subcortical band heterotopia False False False -Orphanet:99797 Anodontia False False False -Orphanet:99798 Oligodontia False False False -Orphanet:998 Albinism-deafness syndrome False False False -Orphanet:99802 Hemimegalencephaly False False False -Orphanet:99803 Haddad syndrome False False False -Orphanet:99806 Oculootodental syndrome False False False -Orphanet:99807 PEHO-like syndrome False False False -Orphanet:99810 Familial porencephaly False False False -Orphanet:99811 Neuronal intestinal pseudoobstruction False False False -Orphanet:99812 LIG4 syndrome False False False -Orphanet:99818 Turcot syndrome with polyposis False False False -Orphanet:99819 Familial gestational hyperthyroidism False False False -Orphanet:99824 Lassa fever False False False -Orphanet:99825 Nipah virus disease False False False -Orphanet:99826 Marburg hemorrhagic fever False False False -Orphanet:99827 Crimean-Congo hemorrhagic fever False False False -Orphanet:99828 Dengue fever False False False -Orphanet:99829 Yellow fever False False False -Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome False False False -Orphanet:99842 Leukocyte adhesion deficiency type I False False False -Orphanet:99843 Leukocyte adhesion deficiency type II False False False -Orphanet:99844 Leukocyte adhesion deficiency type III False False False -Orphanet:99845 Genetic recurrent myoglobinuria False False False -Orphanet:99846 Autosomal dominant myoglobinuria False False False -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency False False False -Orphanet:99852 Ravine syndrome False False False -Orphanet:99853 Ovarioleukodystrophy False False False -Orphanet:99854 Cree leukoencephalopathy False False False -Orphanet:99856 Primary syringomyelia False False False -Orphanet:99857 Secondary syringomyelia False False False -Orphanet:99858 Idiopathic syringomyelia False False False -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia False False False -Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia False False False -Orphanet:99865 Spermatocytic seminoma False False False -Orphanet:99867 Thymoma False False False -Orphanet:99868 Thymic carcinoma False False False -Orphanet:99869 Thymic neuroendocrine carcinoma False False False -Orphanet:99879 Familial isolated hyperparathyroidism False False False -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome False False False -Orphanet:99885 Isolated permanent neonatal diabetes mellitus False False False -Orphanet:99886 Transient neonatal diabetes mellitus False False False -Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome False False False -Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion False False False -Orphanet:99892 ACTH-dependent Cushing syndrome False False False -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency False False False -Orphanet:999 Ermine phenotype False False False -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency False False False -Orphanet:99903 Spirillary rat-bite fever False False False -Orphanet:99905 Streptobacillary rat-bite fever False False False -Orphanet:99906 Farmer's lung disease False False False -Orphanet:99907 House allergic alveolitis False False False -Orphanet:99908 Pigeon-breeder lung disease False False False -Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary False False False -Orphanet:99914 Gynandroblastoma False False False -Orphanet:99915 Maligant granulosa cell tumor of the ovary False False False -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary False False False -Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified False False False -Orphanet:99918 Streptococcal toxic-shock syndrome False False False -Orphanet:99919 Staphylococcal toxic-shock syndrome False False False -Orphanet:99920 Acute graft versus host disease False False False -Orphanet:99921 Chronic graft versus host disease False False False -Orphanet:99922 Ocular cicatricial pemphigoid False False False -Orphanet:99925 Invasive mole False False False -Orphanet:99926 Gestational choriocarcinoma False False False -Orphanet:99927 Hydatidiform mole False False False -Orphanet:99928 Placental site trophoblastic tumor False False False -Orphanet:99930 Secondary pulmonary hemosiderosis False False False -Orphanet:99931 Idiopathic pulmonary hemosiderosis False False False -Orphanet:99932 Heiner syndrome False False False -Orphanet:99933 Pleuropulmonary blastoma type 1 False False False -Orphanet:99934 Pleuropulmonary blastoma type 2 False False False -Orphanet:99935 Pleuropulmonary blastoma type 3 False False False -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B False False False -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C False False False -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D False False False -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E False False False -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F False False False -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G False False False -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I False False False -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J False False False -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K False False False -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L False False False -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 False False False -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 False False False -Orphanet:99948 Charcot-Marie-Tooth disease type 4A False False False -Orphanet:99949 Charcot-Marie-Tooth disease type 4C False False False -Orphanet:99950 Charcot-Marie-Tooth disease type 4D False False False -Orphanet:99951 Charcot-Marie-Tooth disease type 4E False False False -Orphanet:99952 Charcot-Marie-Tooth disease type 4F False False False -Orphanet:99953 Charcot-Marie-Tooth disease type 4G False False False -Orphanet:99954 Charcot-Marie-Tooth disease type 4H False False False -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 False False False -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 False False False -Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 False False False -Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 False False False -Orphanet:99965 O'Sullivan-McLeod syndrome False False False -Orphanet:99966 Atypical teratoid rhabdoid tumor False False False -Orphanet:99967 Myxoid/round cell liposarcoma False False False -Orphanet:99969 Pleomorphic liposarcoma False False False -Orphanet:99970 Dedifferentiated liposarcoma False False False -Orphanet:99971 Well-differentiated liposarcoma False False False -Orphanet:99976 Adenocarcinoma of the esophagus False False False -Orphanet:99977 Squamous cell carcinoma of the esophagus False False False -Orphanet:99978 Klatskin tumor False False False -Orphanet:99981 Apnea of prematurity False False False -Orphanet:99983 Cutaneous myiasis False False False -Orphanet:99989 Intermediate DEND syndrome False False False -Orphanet:99990 Brill-Zinsser disease False False False -Orphanet:99991 Relapsing epidemic typhus False False False -Orphanet:99994 Complex regional pain syndrome type 2 False False False -Orphanet:99995 Complex regional pain syndrome type 1 False False False -Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies False True False -Orphanet:100076 Duodenal neuroendocrine tumor False True False -Orphanet:100077 Jejunal neuroendocrine tumor False True False -Orphanet:101987 Constitutional neutropenia False True False -Orphanet:104003 Congenital intestinal transport defect False True False -Orphanet:104007 Congenital enteropathy involving intestinal mucosa development False True False -Orphanet:104008 Short bowel syndrome False True False -Orphanet:104009 Rare disease involving intestinal motility False True False -Orphanet:104010 Intestinal polyposis syndrome False True False -Orphanet:104011 Rare tumor of intestine False True False -Orphanet:104012 Rare inflammatory bowel disease False True False -Orphanet:108967 Non-syndromic intestinal malformation False True False -Orphanet:108969 Syndromic intestinal malformation False True False -Orphanet:108971 Non-syndromic visceral malformation False True False -Orphanet:117573 Syndromic anorectal malformation False True False +Orphanet:652510 Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa False False False +Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation False False False +Orphanet:652519 Cleft palate-congenital heart defect-intellectual disability syndrome False False False +Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome False False False +Orphanet:652528 Non-syndromic supernumerary kidneys False False False +Orphanet:652532 Adult-onset progressive leukoencephalopathy-early-onset deafness False False False +Orphanet:652650 Nodal T-follicular helper cell lymphoma, follicular type False False False +Orphanet:652658 Monomorphic epitheliotropic intestinal T-cell lymphoma False False False +Orphanet:652668 Primary superior vena cava aneurysm False False False +Orphanet:652678 Primary inferior vena cava aneurysm False False False +Orphanet:652681 Idiopathic subglottic stenosis False False False +Orphanet:653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa False False False +Orphanet:653698 Lymphocytic mastitis False False False +Orphanet:653709 Cone rod dystrophy-short stature syndrome False False False +Orphanet:653712 CHD4-related neurodevelopmental disorder False False False +Orphanet:653722 Digenic Alport syndrome False False False +Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 False False False +Orphanet:653728 Congenital insensitivity to pain syndrome, Marsili type False False False +Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency False False False +Orphanet:653767 Jansen-de Vries syndrome False False False +Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency False False False +Orphanet:656071 Atrophic papulosis False False False +Orphanet:656085 Benign atrophic papulosis False False False +Orphanet:656126 Segmental spinal dysgenesis False False False +Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome False False False +Orphanet:656135 Intellectual disability-cupped ears syndrome False False False +Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome False False False +Orphanet:656279 1p36.33 duplication syndrome False False False +Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency False False False +Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency False False False +Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency False False False +Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency False False False +Orphanet:656417 Embryonal tumor with multilayered rosettes False False False +Orphanet:656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency False False False +Orphanet:658540 16q22 deletion syndrome False False False +Orphanet:658549 Idiopathic small fibers neuropathy False False False +Orphanet:658574 Isolated pulmonary artery sling False False False +Orphanet:658584 Rowell syndrome False False False +Orphanet:658590 Eyelid sebaceous carcinoma False False False +Orphanet:658595 DNMT3A-related microcephalic dwarfism False False False +Orphanet:658602 Transplant-related bronchiolitis obliterans False False False +Orphanet:658612 Non-transplant-related bronchiolitis obliterans False False False +Orphanet:658778 COQ7-related distal hereditary motor neuropathy False False False +Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome False False False +Orphanet:658810 Atrophoderma of Pasini and Pierini False False False +Orphanet:658813 Methylenetetrahydrofolate dehydrogenase 1 deficiency False False False +Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome False False False +Orphanet:658909 Fasciolopsiasis False False False +Orphanet:658913 Paragonimiasis False False False +Orphanet:658917 Clonorchiasis False False False +Orphanet:658946 Early-onset autoimmune disorder due to DOCK11 partial deficiency False False False +Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency False False False Orphanet:137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk False True False -Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis False True False -Orphanet:158038 Primary hemophagocytic lymphohistiocytosis False True False Orphanet:158048 Hemophagocytic syndrome associated with an infection False True False -Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption False True False -Orphanet:164823 Rare acquired aplastic anemia False True False -Orphanet:165704 Non-syndromic urogenital tract malformation False True False -Orphanet:167714 Unclassified acute myeloid leukemia False True False -Orphanet:168807 Primary malignant peritoneal tumor False True False -Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 False True False -Orphanet:168956 Hypereosinophilic syndrome False True False -Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies False True False -Orphanet:169355 Immunodeficiency syndrome with autoimmunity False True False -Orphanet:171895 Myeloid hemopathy False True False -Orphanet:171898 Lymphoid hemopathy False True False -Orphanet:171901 Primary cutaneous T-cell lymphoma False True False -Orphanet:171915 B-cell non-Hodgkin lymphoma False True False -Orphanet:171918 T-cell non-Hodgkin lymphoma False True False -Orphanet:178548 Indolent primary cutaneous T-cell lymphoma False True False -Orphanet:178551 Aggressive primary cutaneous T-cell lymphoma False True False -Orphanet:178554 Aggressive primary cutaneous B-cell lymphoma False True False -Orphanet:178557 Indolent primary cutaneous B-cell lymphoma False True False -Orphanet:178563 Primary cutaneous B-cell lymphoma False True False -Orphanet:178566 Mycosis fungoides and variants False True False -Orphanet:180065 Non-syndromic uterovaginal malformation False True False -Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts False True False -Orphanet:180071 Unilateral aplasia of the Müllerian ducts False True False -Orphanet:180122 Septate uterus False True False -Orphanet:180134 Bicornuate uterus False True False -Orphanet:180151 Rare vaginal malformation False True False -Orphanet:182040 Rare aplastic anemia False True False -Orphanet:182090 Pulmonary arterial hypertension False True False -Orphanet:182095 Interstitial lung disease False True False -Orphanet:182098 Pneumoconiosis False True False -Orphanet:182101 Idiopathic eosinophilic pneumonia False True False -Orphanet:182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease False True False -Orphanet:182117 Non-syndromic urogenital tract malformation of female False True False -Orphanet:182121 Non-syndromic urogenital tract malformation of male False True False -Orphanet:182124 Non-syndromic urogenital tract malformation of male and female False True False Orphanet:182222 Rare systemic disease False True False Orphanet:183466 Genetic hyperpigmentation of the skin False True False Orphanet:183469 Genetic hypopigmentation of the skin False True False Orphanet:183607 Genetic lens and zonula anomaly False True False -Orphanet:183660 Severe combined immunodeficiency False True False -Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma False True False -Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency False True False Orphanet:206634 Genetic skeletal muscle disease False True False Orphanet:207090 Qualitative or quantitative defects of collagen 6 False True False -Orphanet:217071 Renal cell carcinoma False True False Orphanet:217080 Pulmonary fungal infections in patients deemed at risk False True False -Orphanet:217569 Rare hypertrophic cardiomyopathy False True False -Orphanet:217572 Glycogen storage disease with hypertrophic cardiomyopathy False True False -Orphanet:217581 Lysosomal disease with hypertrophic cardiomyopathy False True False -Orphanet:217587 Mitochondrial disease with hypertrophic cardiomyopathy False True False -Orphanet:217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy False True False -Orphanet:217595 Syndrome associated with hypertrophic cardiomyopathy False True False -Orphanet:217598 Non-familial hypertrophic cardiomyopathy False True False -Orphanet:217610 Neuromuscular disease with dilated cardiomyopathy False True False -Orphanet:217613 Mitochondrial disease with dilated cardiomyopathy False True False -Orphanet:217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy False True False -Orphanet:217619 Syndrome associated with dilated cardiomyopathy False True False -Orphanet:217638 Lysosomal disease with restrictive cardiomyopathy False True False -Orphanet:220489 Rare hereditary hemochromatosis False True False -Orphanet:223735 Lymphoma False True False Orphanet:228215 Genetic dermis elastic tissue disorder False True False Orphanet:231080 High-grade dysplasia in patients with Barrett esophagus False True False -Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly False True False -Orphanet:231386 Beta-thalassemia with other manifestations False True False -Orphanet:232288 Syndrome with alpha-thalassemia as a major feature False True False -Orphanet:235936 Familial hyperaldosteronism False True False -Orphanet:238510 Lymphoproliferative syndrome False True False -Orphanet:238517 Hypotonia-cystinuria type 1 syndrome False True False Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence False True False -Orphanet:240935 Prediction of resistance to clopidogrel False True False -Orphanet:240947 Prediction of resistance to tamoxifene False True False -Orphanet:241043 Tacrolimus dose selection False True False Orphanet:2416 Congenital primary lymphedema without systemic or visceral involvement False True False -Orphanet:2442 X-linked lymphoproliferative disease False True False Orphanet:244275 De novo thrombotic microangiopathy after kidney transplantation False True False -Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy False True False -Orphanet:251355 Sickle cell disease associated with another hemoglobin anomaly False True False -Orphanet:251995 Primary germ cell tumor of central nervous system False True False Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia False True False -Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma False True False -Orphanet:262 Duchenne and Becker muscular dystrophy False True False Orphanet:263352 Postcardiotomy right ventricular failure False True False -Orphanet:264656 Interstitial lung disease specific to childhood False True False -Orphanet:264665 Primary interstitial lung disease specific to childhood False True False -Orphanet:264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder False True False -Orphanet:264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder False True False -Orphanet:264694 Interstitial lung disease specific to infancy False True False -Orphanet:264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease False True False -Orphanet:264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease False True False -Orphanet:264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis False True False -Orphanet:264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease False True False -Orphanet:264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease False True False -Orphanet:264735 Interstitial lung disease specific to adulthood False True False -Orphanet:264740 Primary interstitial lung disease specific to adulthood False True False -Orphanet:264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease False True False -Orphanet:264757 Interstitial lung disease in childhood and adulthood False True False -Orphanet:264762 Primary interstitial lung disease in childhood and adulthood False True False -Orphanet:264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder False True False -Orphanet:264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder False True False -Orphanet:264944 Secondary interstitial lung disease in childhood and adulthood False True False -Orphanet:264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease False True False -Orphanet:264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease False True False -Orphanet:264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis False True False -Orphanet:264984 Exposure-related interstitial lung disease False True False Orphanet:268316 Complication in hemodialysis False True False Orphanet:269550 Genetic non-syndromic central nervous system malformation False True False Orphanet:269564 Genetic syndrome with a central nervous system malformation as a major feature False True False Orphanet:269567 Genetic syndrome with a cerebellar malformation as a major feature False True False -Orphanet:271861 Hereditary ATTR amyloidosis False True False -Orphanet:275745 Alpha-thalassemia and related disorders False True False -Orphanet:275749 Beta-thalassemia and related diseases False True False -Orphanet:275752 Sickle cell disease and related diseases False True False -Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension False True False -Orphanet:275791 Pulmonary arterial hypertension associated with another disease False True False -Orphanet:275798 Pulmonary arterial hypertension associated with connective tissue disease False True False -Orphanet:275803 Pulmonary arterial hypertension associated with congenital heart disease False True False -Orphanet:275808 Pulmonary arterial hypertension associated with HIV infection False True False -Orphanet:275813 Pulmonary arterial hypertension associated with portal hypertension False True False -Orphanet:275823 Pulmonary arterial hypertension associated with schistosomiasis False True False -Orphanet:275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia False True False -Orphanet:2781 Osteopetrosis and related disorders False True False -Orphanet:279911 Primary organ-specific lymphoma False True False Orphanet:280369 Rare pediatric vasculitis False True False Orphanet:280373 Rare pediatric systemic disease False True False -Orphanet:284102 Prediction of response to antiviral treatment in hepatitis C False True False -Orphanet:284121 Prediction of toxicity or absent response to clozapine False True False -Orphanet:284385 Familial intrahepatic cholestasis False True False Orphanet:289825 Late-onset primary lymphedema without systemic or visceral involvement False True False -Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma False True False -Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma False True False -Orphanet:300912 Marginal zone lymphoma False True False -Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract False True False -Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract False True False -Orphanet:309144 Gangliosidosis False True False -Orphanet:309152 GM2 gangliosidosis False True False -Orphanet:309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation False True False -Orphanet:31740 Hypersensitivity pneumonitis False True False -Orphanet:317416 T-B+ severe combined immunodeficiency False True False -Orphanet:317419 T-B- severe combined immunodeficiency False True False -Orphanet:3188 Congenital pulmonary veins atresia or stenosis False True False -Orphanet:319269 Selection of therapeutic option in AIDS False True False -Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy False True False -Orphanet:325357 46,XY difference of sex development due to impaired androgen production False True False -Orphanet:325511 46,XY difference of sex development due to a cholesterol synthesis defect False True False -Orphanet:325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors False True False -Orphanet:331184 Constitutional neutropenia with extra-hematopoietic manifestations False True False -Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells False True False -Orphanet:331249 Immunodeficiency syndrome with hypopigmentation False True False -Orphanet:3399 Germ cell tumor False True False -Orphanet:357191 Selection of therapeutic option in non-small cell lung carcinoma False True False -Orphanet:357194 Selection of therapeutic option in colorectal cancer False True False -Orphanet:357502 Idiopathic nephrotic syndrome False True False Orphanet:357506 Genetic non-syndromic renal or urinary tract malformation False True False -Orphanet:35807 Malignant germ cell tumor of ovary False True False -Orphanet:363504 Germ cell tumor of testis False True False -Orphanet:363579 Extragonadal germ cell tumor False True False -Orphanet:363582 Gonadal germ cell tumor False True False -Orphanet:364195 Prediction of resistance to bleomycine in the treatment of testicular cancer False True False -Orphanet:365563 Primary short bowel syndrome False True False -Orphanet:371176 Congenital disorder of glycosylation with dilated cardiomyopathy False True False Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment False True False -Orphanet:397802 T+ B+ severe combined immunodeficiency False True False Orphanet:404574 Genetic syndrome with limb reduction defects False True False Orphanet:404577 Genetic syndrome with limb malformations as a major feature False True False -Orphanet:404580 Polyarticular juvenile idiopathic arthritis False True False -Orphanet:413667 Prediction of toxicity or dose selection of antidepressants or antipsychotics False True False -Orphanet:413674 Prediction of toxicity or dose selection of vitamin K antagonists False True False -Orphanet:413681 Prediction of toxicity or dose selection of oral antidiabetic drugs False True False -Orphanet:413684 Prediction of resistance to vitamin K antagonists False True False -Orphanet:413687 Prediction of toxicity or dose selection of thiopurine drugs False True False -Orphanet:423793 Rare tumor of small intestine False True False -Orphanet:423798 Mesenchymal tumor of small intestine False True False -Orphanet:423957 Rare carcinoma of small intestine False True False -Orphanet:423975 Neuroendocrine tumor of the small intestine False True False -Orphanet:423982 Epithelial tumor of the appendix False True False -Orphanet:423991 Rare epithelial tumor of colon False True False -Orphanet:423998 Rare epithelial tumor of rectum False True False -Orphanet:424010 Epithelial tumor of anal canal False True False -Orphanet:424013 Carcinoma of the anal canal False True False -Orphanet:424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract False True False -Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract False True False -Orphanet:425368 Rare epithelial tumor of small intestine False True False -Orphanet:42738 Severe congenital neutropenia False True False -Orphanet:435365 Fetal lower urinary tract obstruction False True False -Orphanet:435743 Congenital urachal anomaly False True False -Orphanet:439246 ABeta2M amyloidosis False True False -Orphanet:439849 Autosomal recessive severe congenital neutropenia False True False -Orphanet:443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect False True False -Orphanet:444941 Caudal regression-sirenomelia spectrum False True False -Orphanet:447771 Sclerosing cholangitis False True False -Orphanet:449306 Antibiotic therapy dose selection False True False -Orphanet:480549 Non-severe combined immunodeficiency False True False -Orphanet:485631 Congenital bile acid synthesis defect False True False Orphanet:486955 Rare pediatric rheumatologic disease False True False Orphanet:505395 Ventilator-induced diaphragmatic dysfunction False True False Orphanet:506207 Rare disorder potentially indicated for transplant False True False @@ -9394,9 +201,6 @@ Orphanet:506216 Rare disorder potentially indicated for bowel transplant False T Orphanet:506219 Rare disorder potentially indicated for hematopoietic stem cell transplant False True False Orphanet:506222 Rare disorder potentially indicated for lung transplant False True False Orphanet:506225 Rare disorder potentially indicated for heart transplant False True False -Orphanet:512034 Large granular lymphocyte leukemia False True False -Orphanet:513 Acute lymphoblastic leukemia False True False -Orphanet:519 Acute myeloid leukemia False True False Orphanet:519266 Rare disorder of the ocular adnexa False True False Orphanet:519268 Rare disorder with ectropion False True False Orphanet:519272 Structural developmental eye defect False True False @@ -9428,60 +232,25 @@ Orphanet:522578 Rare genetic disorder involving multiple structures of the eye F Orphanet:522584 Rare genetic choroidal disorder False True False Orphanet:523000 Pediatric-onset glaucoma False True False Orphanet:525677 Genetic congenital malformation of the eye with glaucoma as a major feature False True False -Orphanet:52688 Myelodysplastic syndrome False True False -Orphanet:529825 Prediction of resistance to colchicine False True False -Orphanet:529828 Prediction of enzalutamide toxicity False True False -Orphanet:529974 Immune dysregulation with inflammatory bowel disease False True False Orphanet:538238 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect False True False -Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease False True False -Orphanet:542 Primary cutaneous lymphoma False True False Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome False True False -Orphanet:544 Diffuse large B-cell lymphoma False True False -Orphanet:544260 Selection of therapeutic option in melanoma False True False -Orphanet:544458 Hemolytic uremic syndrome False True False Orphanet:544590 Collagen-related glomerular basement membrane disease False True False -Orphanet:547 Non-Hodgkin lymphoma False True False -Orphanet:557 Non-syndromic anorectal malformation False True False -Orphanet:557866 Rare disorder with Hirschsprung disease as a major feature False True False -Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract False True False -Orphanet:562522 Prediction of response to monoclonal antibody treatment False True False Orphanet:564127 Genetic nephrotic syndrome False True False Orphanet:564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome False True False -Orphanet:565785 Methotrexate dose selection False True False -Orphanet:567554 Systemic disease with glomerulopathy as a major feature False True False Orphanet:567556 Genetic systemic disease with glomerulopathy as a major feature False True False Orphanet:567558 Non-genetic systemic disease with glomerulopathy as a major feature False True False Orphanet:567560 Systemic vasculitis associated with glomerulopathy False True False Orphanet:567562 Disorder with multisystemic involvement and glomerulopathy False True False -Orphanet:567564 Nephrotic syndrome without extrarenal manifestations False True False -Orphanet:596747 Prediction of toxicity or dose selection of eliglustat False True False Orphanet:603699 Recessive KLHL7-related disorder False True False Orphanet:616874 Rare disorder without a determined diagnosis after full investigation False True False Orphanet:617307 Rare disorder related to monochorionic twin pregnancy False True False -Orphanet:618569 Prediction of sensitivity to immunosuppressive drugs in myelodysplasia False True False -Orphanet:618572 Selection of therapeutic option in ovarian cancer False True False Orphanet:618899 Acid sphingomyelinase deficiency False True False -Orphanet:619246 Selection of immunotherapy in solid cancer False True False Orphanet:619249 Rare hereditary connective tissue disease False True False -Orphanet:619277 Prediction of antihistamines toxicity False True False Orphanet:622720 Genetic autoinflammatory syndrome with skin involvement False True False Orphanet:622914 Rare genetic nevus False True False Orphanet:626609 Rare andrological tumor False True False Orphanet:633076 Split cord malformation, composite type False True False Orphanet:648569 Non-HFE-related hemochromatosis False True False -Orphanet:68364 Hemoglobinopathy False True False -Orphanet:68383 Rare constitutional aplastic anemia False True False -Orphanet:69 Amyloidosis False True False -Orphanet:73014 Intractable diarrhea of infancy False True False -Orphanet:73217 Müllerian aplasia False True False -Orphanet:79188 Peroxisomal beta-oxidation disorder False True False -Orphanet:79204 Lipid storage disease False True False -Orphanet:79213 Mucopolysaccharidosis False True False -Orphanet:79225 Sphingolipidosis False True False -Orphanet:86836 Refractory cytopenia with multilineage dysplasia False True False -Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome False True False -Orphanet:86851 Acute leukemia of ambiguous lineage False True False -Orphanet:88673 Hepatocellular carcinoma False True False Orphanet:90051 Sepsis in premature infants False True False Orphanet:90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients False True False Orphanet:90053 Complications after hematopoietic stem cell transplantation False True False @@ -9491,34 +260,9 @@ Orphanet:90073 Hepatitis B reinfection following liver transplantation False Tru Orphanet:90076 Partial deep dermal and full thickness burns False True False Orphanet:90078 Invasive infections due to vancomycin-resistant enterococci False True False Orphanet:90080 Scarring in glaucoma filtration surgical procedures False True False -Orphanet:90783 46,XY difference of sex development due to a testosterone synthesis defect False True False -Orphanet:90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect False True False -Orphanet:90787 46,XY difference of sex development due to testicular steroidogenesis defect False True False Orphanet:91127 Adenovirus infection in immunocompromised patients False True False -Orphanet:91137 Immunotactoid or fibrillary glomerulopathy False True False -Orphanet:92 Juvenile idiopathic arthritis False True False -Orphanet:93546 Non-syndromic renal or urinary tract malformation False True False -Orphanet:93547 Syndromic renal or urinary tract malformation False True False -Orphanet:93548 Glomerular disease False True False Orphanet:94059 Uremic pruritus False True False -Orphanet:96346 Anorectal malformation False True False -Orphanet:97292 Cardiogenic shock False True False -Orphanet:97945 Intestinal malformation False True False -Orphanet:98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue False True False -Orphanet:98274 Myeloproliferative neoplasm False True False -Orphanet:98275 Myelodysplastic/myeloproliferative disease False True False -Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly False True False -Orphanet:98282 Plasma cell tumor False True False -Orphanet:98287 Histiocytic and dendritic cell tumor False True False -Orphanet:98288 Macrophage or histiocytic tumor False True False -Orphanet:98289 Dendritic cell tumor False True False -Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease False True False -Orphanet:98291 Lymphoproliferative disease associated with primary immune disease False True False -Orphanet:98293 Hodgkin lymphoma False True False -Orphanet:98300 Idiopathic interstitial pneumonia False True False -Orphanet:98421 Primary acquired red cell aplasia False True False Orphanet:98495 Genetic neuromuscular junction disease False True False -Orphanet:98555 Microphthalmia-anophthalmia-coloboma False True False Orphanet:98737 Genetic neurological muscular channelopathy False True False Orphanet:98744 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect False True False Orphanet:98745 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect False True False @@ -9526,9 +270,6 @@ Orphanet:98746 Neurological channelopathy of the central nervous system due to a Orphanet:98747 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect False True False Orphanet:98748 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect False True False Orphanet:98749 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect False True False -Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy False True False -Orphanet:99909 Occupational allergic alveolitis False True False -Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor False True False Orphanet:C001 False True False Orphanet:100039 Familial pseudohyperkalemia type 1 False True True Orphanet:100040 OBSOLETE: Familial pseudohyperkalemia type 2 False True True @@ -9553,32 +294,25 @@ Orphanet:101337 OBSOLETE: Marseilles fever False True True Orphanet:101338 OBSOLETE: Mediterranean spotted fever False True True Orphanet:101356 OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome False True True Orphanet:1019 Epstein syndrome False True True -Orphanet:101949 OBSOLETE: Rare acquired eye disease False True True Orphanet:101978 OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells False True True Orphanet:101980 OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells False True True Orphanet:101982 OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells False True True Orphanet:102025 OBSOLETE: Nuclear cell envelopathy False True True Orphanet:102069 OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis False True True Orphanet:102284 OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome False True True -Orphanet:102373 OBSOLETE: Primary glomerular disease False True True Orphanet:103 OBSOLETE: Genetic optic atrophy False True True Orphanet:1032 OBSOLETE: Hyperdibasic aminoaciduria type 1 False True True Orphanet:1034 OBSOLETE: Amniotic bands False True True -Orphanet:103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome False True True Orphanet:103915 OBSOLETE: Immunoproliferative small intestinal disease False True True -Orphanet:103916 OBSOLETE: Autoimmune enteropathy type 2 False True True Orphanet:103917 OBSOLETE: Autoimmune enteropathy type 3 False True True Orphanet:1044 OBSOLETE: Anemia due to adenosine triphosphatase deficiency False True True Orphanet:1057 OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome False True True Orphanet:106 NON RARE IN EUROPE: Autism False True True Orphanet:1060 Systemic cystic angiomatosis-Seip syndrome False True True Orphanet:1088 OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome False True True -Orphanet:108985 OBSOLETE: Non-syndromic developmental defect of the eye False True True -Orphanet:108987 OBSOLETE: Syndromic developmental defect of the eye False True True Orphanet:1092 Renal-genital-middle ear anomalies False True True Orphanet:1102 Anophthalmia-hypothalamo-pituitary insufficiency syndrome False True True Orphanet:1115 OBSOLETE: Recessive aplasia cutis congenita of limbs False True True -Orphanet:1136 OBSOLETE: Arnold-Chiari malformation type II False True True Orphanet:1137 OBSOLETE: Pulmonary aortic stenosis obstructive uropathy False True True Orphanet:1139 OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome False True True Orphanet:1153 OBSOLETE: Transient neonatal arthrogryposis False True True @@ -9592,27 +326,20 @@ Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus False True True Orphanet:1235 OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome False True True Orphanet:1239 OBSOLETE: Behr syndrome False True True Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve False True True -Orphanet:1245 BIDS syndrome False True True Orphanet:1249 OBSOLETE: Binswanger disease False True True Orphanet:1250 OBSOLETE: Blaichman syndrome False True True Orphanet:1251 Blepharofacioskeletal syndrome False True True -Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome False True True Orphanet:1258 OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome False True True Orphanet:1260 OBSOLETE: Sino-auricular heart block False True True Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type False True True Orphanet:1271 Bowen syndrome False True True Orphanet:1301 Bronchiectasis-oligospermia syndrome False True True -Orphanet:1306 NON RARE IN EUROPE: Buschke-Ollendorff syndrome False True True -Orphanet:1317 CAMFAK syndrome False True True Orphanet:1339 OBSOLETE: Cranioacrofacial syndrome False True True Orphanet:137586 OBSOLETE: Herpes simplex virus keratitis False True True Orphanet:1376 OBSOLETE: Congenital cataract-ichthyosis syndrome False True True -Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome False True True Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome False True True Orphanet:137862 Martínez-Frías syndrome False True True Orphanet:137871 OBSOLETE: Laminopathy type Decaudain-Vigouroux False True True -Orphanet:137902 OBSOLETE: Isolated optic nerve hypoplasia/aplasia False True True -Orphanet:137911 Autism-facial port-wine stain syndrome False True True Orphanet:137923 OBSOLETE: Cervicofacial lymphatic malformation False True True Orphanet:138063 OBSOLETE: Syndrome associated with Pierre Robin syndrome False True True Orphanet:138066 OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies False True True @@ -9634,7 +361,6 @@ Orphanet:139015 OBSOLETE: Chondrodysplastic malformation syndrome False True Tru Orphanet:139018 OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones False True True Orphanet:139373 OBSOLETE: Recessive hereditary methemoglobinemia type 1 False True True Orphanet:139380 OBSOLETE: Recessive hereditary methemoglobinemia type 2 False True True -Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis False True True Orphanet:139477 Al-Gazali-Dattani syndrome False True True Orphanet:139491 OBSOLETE: Hemochromatosis type 4 False True True Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 False True True @@ -9678,9 +404,7 @@ Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome False T Orphanet:157855 HARP syndrome False True True Orphanet:157980 NON RARE IN EUROPE: Bladder cancer False True True Orphanet:158661 OBSOLETE: Suprabasal epidermolysis bullosa simplex False True True -Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex False True True Orphanet:158793 OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia False True True -Orphanet:158796 OBSOLETE: Classic mast cell leukemia False True True Orphanet:158799 OBSOLETE: Aleukemic mast cell leukemia False True True Orphanet:1611 OBSOLETE: Deletion 20p False True True Orphanet:1625 OBSOLETE: Deletion 4q False True True @@ -9691,14 +415,10 @@ Orphanet:163678 OBSOLETE: Unclassified spondylometaphyseal dysplasia False True Orphanet:163892 OBSOLETE: Limbic encephalitis False True True Orphanet:163895 OBSOLETE: Paraneoplastic limbic encephalitis False True True Orphanet:163898 OBSOLETE: Classic paraneoplastic limbic encephalitis False True True -Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens False True True Orphanet:163908 OBSOLETE: Limbic encephalitis with LGI1 antibodies False True True -Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies False True True -Orphanet:163918 OBSOLETE: Non-paraneoplastic limbic encephalitis False True True Orphanet:163924 OBSOLETE: Non-herpetic acute limbic encephalitis False True True Orphanet:163953 X-linked intellectual disability, Raymond type False True True Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome False True True -Orphanet:163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type False True True Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations False True True Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body False True True Orphanet:1651 OBSOLETE: Dennis-Cohen syndrome False True True @@ -9716,8 +436,6 @@ Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type False True True Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure False True True Orphanet:168972 Kahrizi syndrome False True True Orphanet:169446 OBSOLETE: Autosomal recessive hyper-IgE syndrome False True True -Orphanet:169615 NON RARE IN EUROPE: Idiopathic central precocious puberty False True True -Orphanet:169618 NON RARE IN EUROPE: Secondary central precocious puberty False True True Orphanet:171201 OBSOLETE: High isolated anorectal malformation False True True Orphanet:171208 OBSOLETE: Intermediate isolated anorectal malformation False True True Orphanet:171215 OBSOLETE: Low isolated anorectal malformation False True True @@ -9740,15 +458,9 @@ Orphanet:1800 OBSOLETE: Craniofaciocervical osteoglyphic dysplasia False True Tr Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus False True True Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast False True True Orphanet:1804 Dyssegmental dysplasia-glaucoma syndrome False True True -Orphanet:181425 OBSOLETE: Rare major hypertriglyceridemia False True True Orphanet:1819 OBSOLETE: Epimetaphyseal skeletal dysplasia False True True -Orphanet:182073 OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability False True True -Orphanet:182076 OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability False True True -Orphanet:182214 OBSOLETE: Rare inflammatory eye disease False True True Orphanet:1823 OBSOLETE: Localized epiphyseal dysplasia False True True Orphanet:1831 De Hauwere syndrome False True True -Orphanet:183598 OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease False True True -Orphanet:183601 OBSOLETE: Rare genetic refraction anomaly False True True Orphanet:183604 OBSOLETE: Rare genetic glaucoma False True True Orphanet:183672 OBSOLETE: Common variable immunodeficiency due to TNFR deficiency False True True Orphanet:183716 OBSOLETE: Other complex syndrome of primary immunodeficiency False True True @@ -9763,8 +475,6 @@ Orphanet:1888 Ectrodactyly-ectodermal dysplasia without clefting syndrome False Orphanet:1889 Ectrodactyly-cleft palate syndrome False True True Orphanet:1894 Ectrodactyly-spina bifida-cardiopathy syndrome False True True Orphanet:189424 OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia False True True -Orphanet:189439 OBSOLETE: Primary pigmented nodular adrenocortical disease False True True -Orphanet:1939 OBSOLETE: Envenomization by Bothrops lanceolatus False True True Orphanet:194 OBSOLETE: Ocular coloboma False True True Orphanet:1940 Shoulder and thorax deformity-congenital heart disease syndrome False True True Orphanet:1956 OBSOLETE: Erythromelalgia False True True @@ -9774,21 +484,17 @@ Orphanet:1984 Fechtner syndrome False True True Orphanet:2005 OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome False True True Orphanet:2029 Multiple non-ossifying fibromatosis False True True Orphanet:2033 OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome False True True -Orphanet:2042 OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome False True True Orphanet:2051 Fraser-like syndrome False True True Orphanet:2054 OBSOLETE: Osteochondritis of tarsal/metatarsal bone False True True Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome False True True Orphanet:206 NON RARE IN EUROPE: Crohn disease False True True Orphanet:2060 Fukuda-Miyanomae-Nakata syndrome False True True -Orphanet:206473 OBSOLETE: Borderline epithelial tumor of ovary False True True Orphanet:206606 OBSOLETE: Other muscle weakness and/or chronic muscle pain False True True Orphanet:206610 OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain False True True Orphanet:206616 OBSOLETE: Acquired metabolic neuropathy False True True Orphanet:206619 OBSOLETE: Toxic or/and iatrogenic neuropathy False True True -Orphanet:206659 OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly False True True Orphanet:206713 OBSOLETE: Distal spinal muscular atrophy False True True Orphanet:206979 OBSOLETE: Granulomatous myositis False True True -Orphanet:206985 OBSOLETE: Drug and/or toxic myopathy False True True Orphanet:207003 OBSOLETE: Endocrine myopathy False True True Orphanet:207006 OBSOLETE: Acquired amyloid myopathy False True True Orphanet:207009 OBSOLETE: Acquired rod-body myopathy False True True @@ -9796,7 +502,6 @@ Orphanet:207031 OBSOLETE: Rare disease with corpus callosum agenesis associated Orphanet:2081 Cerebral gigantism-jaw cysts syndrome False True True Orphanet:208600 OBSOLETE: Papillary fibroelastoma of the heart False True True Orphanet:2087 Glomerulonephritis-sparse hair-telangiectasis syndrome False True True -Orphanet:208981 OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies False True True Orphanet:208994 OBSOLETE: Other ganglionopathy related to autoimmune diseases False True True Orphanet:209886 OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 False True True Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency False True True @@ -9809,11 +514,7 @@ Orphanet:2120 OBSOLETE: Heckenlively syndrome False True True Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome False True True Orphanet:2125 Sacral hemangiomas-multiple congenital abnormalities syndrome False True True Orphanet:2129 OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome False True True -Orphanet:213517 OBSOLETE: Familial ovarian cancer False True True -Orphanet:213524 Hereditary site-specific ovarian cancer syndrome False True True -Orphanet:213574 OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri False True True Orphanet:213741 OBSOLETE: Adenoid cystic carcinoma of the corpus uteri False True True -Orphanet:213817 OBSOLETE: Papillary carcinoma of the cervix uteri False True True Orphanet:2156 OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome False True True Orphanet:2161 OBSOLETE: Holoacardius amorphus False True True Orphanet:216445 Prelingual non-syndromic genetic deafness False True True @@ -9850,7 +551,6 @@ Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disabil Orphanet:228418 OBSOLETE: Microcephaly-seizures-developmental delay syndrome False True True Orphanet:228429 Generalized congenital lipodystrophy with myopathy False True True Orphanet:2286 OBSOLETE: Solitary median maxillary central incisor syndrome False True True -Orphanet:2292 OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome False True True Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome False True True Orphanet:231205 OBSOLETE: Common variable immunodeficiency without known genetic defect False True True Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome False True True @@ -9863,100 +563,9 @@ Orphanet:235835 OBSOLETE: Congenital vascular bone syndrome with limb overgrowth Orphanet:235838 OBSOLETE: Congenital vascular bone syndrome with limb shortening False True True Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease False True True Orphanet:238691 OBSOLETE: Congenital liver hemangioma False True True -Orphanet:238755 OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H False True True Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome False True True Orphanet:2389 Lewis-Pashayan syndrome False True True Orphanet:240266 OBSOLETE: Systemic non-Langerhans cell histiocytosis False True True -Orphanet:240843 OBSOLETE: Acenocoumarol toxicity False True True -Orphanet:240847 OBSOLETE: Amitriptyline toxicity False True True -Orphanet:240849 OBSOLETE: Antipsychotics toxicity False True True -Orphanet:240851 OBSOLETE: Atorvastatin toxicity False True True -Orphanet:240853 OBSOLETE: Azathioprine toxicity False True True -Orphanet:240855 OBSOLETE: Capecitabine toxicity False True True -Orphanet:240857 OBSOLETE: Carbamazepine toxicity False True True -Orphanet:240859 OBSOLETE: Carbutamide toxicity False True True -Orphanet:240861 OBSOLETE: Cisatracurium toxicity False True True -Orphanet:240865 OBSOLETE: Clomipramine toxicity False True True -Orphanet:240873 OBSOLETE: Fluindione toxicity False True True -Orphanet:240875 OBSOLETE: Glibenclamide toxicity False True True -Orphanet:240877 OBSOLETE: Gliclazide toxicity False True True -Orphanet:240879 OBSOLETE: Glimepiride toxicity False True True -Orphanet:240881 OBSOLETE: Glipizide toxicity False True True -Orphanet:240883 OBSOLETE: Imipramine toxicity False True True -Orphanet:240889 OBSOLETE: Mercaptopurine toxicity False True True -Orphanet:240891 OBSOLETE: Mivacurium toxicity False True True -Orphanet:240893 OBSOLETE: Nortriptyline toxicity False True True -Orphanet:240895 OBSOLETE: Pancuronium toxicity False True True -Orphanet:240897 OBSOLETE: Phenprocoumon toxicity False True True -Orphanet:240899 OBSOLETE: Phenytoin toxicity False True True -Orphanet:240901 OBSOLETE: Fosphenytoin toxicity False True True -Orphanet:240903 OBSOLETE: Pravastatin toxicity False True True -Orphanet:240907 OBSOLETE: Rocuronium toxicity False True True -Orphanet:240909 OBSOLETE: Rosuvastatin toxicity False True True -Orphanet:240911 OBSOLETE: Satracurium toxicity False True True -Orphanet:240913 OBSOLETE: Simvastatin toxicity False True True -Orphanet:240915 OBSOLETE: Trimipramine toxicity False True True -Orphanet:240917 OBSOLETE: Vecuronium toxicity False True True -Orphanet:240919 OBSOLETE: Venlafaxine toxicity False True True -Orphanet:240923 OBSOLETE: Warfarine toxicity False True True -Orphanet:240925 OBSOLETE: Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation False True True -Orphanet:240927 OBSOLETE: Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation False True True -Orphanet:240929 OBSOLETE: Resistance to acenocoumarol in venous thrombosis and atrial fibrillation False True True -Orphanet:240931 OBSOLETE: Resistance to amitriptyline in the treatment of depression False True True -Orphanet:240933 OBSOLETE: Resistance to clomipramine in the treatment of depression False True True -Orphanet:240937 OBSOLETE: Resistance to fluindione in venous thrombosis and atrial fibrillation False True True -Orphanet:240939 OBSOLETE: Resistance to imipramine in the treatment of depression False True True -Orphanet:240941 OBSOLETE: Resistance to nortripilline in the treatment of depression False True True -Orphanet:240943 OBSOLETE: Resistance to phenprocoumon in venous thrombosis and atrial fibrillation False True True -Orphanet:240945 OBSOLETE: Resistance to tacrolimus in transplantation False True True -Orphanet:240949 OBSOLETE: Resistance to trimipramine in the treatment of depression False True True -Orphanet:240951 OBSOLETE: Resistance to venlafaxine in the treatment of depression False True True -Orphanet:240953 OBSOLETE: Resistance to warfarine in venous thrombosis and atrial fibrillation False True True -Orphanet:240955 OBSOLETE: Susceptibility to adverse reaction due to 5-fluorouracil treatment False True True -Orphanet:240957 OBSOLETE: Susceptibility to adverse reaction due to amitriptyline treatment False True True -Orphanet:240959 OBSOLETE: Susceptibility to adverse reaction due to antipsychotics treatment False True True -Orphanet:240961 OBSOLETE: Susceptibility to adverse reaction due to atorvastatin treatment False True True -Orphanet:240963 OBSOLETE: Susceptibility to adverse reaction due to capecitabine treatment False True True -Orphanet:240965 OBSOLETE: Susceptibility to adverse reaction due to clomipramine treatment False True True -Orphanet:240967 OBSOLETE: Susceptibility to adverse reaction due to codeine treatment False True True -Orphanet:240969 OBSOLETE: Susceptibility to adverse reaction due to efavirenz treatment False True True -Orphanet:240971 OBSOLETE: Susceptibility to adverse reaction due to imipramine treatment False True True -Orphanet:240973 OBSOLETE: Susceptibility to adverse reaction due to irinotecan treatment False True True -Orphanet:240975 OBSOLETE: Susceptibility to adverse reaction due to isoniazide treatment False True True -Orphanet:240977 OBSOLETE: Susceptibility to adverse reaction due to methotrexate treatment False True True -Orphanet:240979 OBSOLETE: Susceptibility to adverse reaction due to nortriptyline treatment False True True -Orphanet:240981 OBSOLETE: Susceptibility to adverse reaction due to pravastatin treatment False True True -Orphanet:240983 OBSOLETE: Susceptibility to adverse reaction due to rosuvastatin treatment False True True -Orphanet:240985 OBSOLETE: Susceptibility to adverse reaction due to simvastatin treatment False True True -Orphanet:240987 OBSOLETE: Susceptibility to adverse reaction due to trimipramine treatment False True True -Orphanet:240989 OBSOLETE: Susceptibility to adverse reaction due to venlafaxine treatment False True True -Orphanet:240991 OBSOLETE: Susceptibility to bleeding due to acenocoumarol treatment False True True -Orphanet:240993 OBSOLETE: Susceptibility to bleeding due to fluindione treatment False True True -Orphanet:240995 OBSOLETE: Susceptibility to bleeding due to phenprocoumon treatment False True True -Orphanet:240997 OBSOLETE: Susceptibility to bleeding due to warfarine treatment False True True -Orphanet:240999 OBSOLETE: Susceptibility to deafness due to cisplatin treatment False True True -Orphanet:241001 OBSOLETE: Susceptibility to hepatitis due to flucloxacilline treatment False True True -Orphanet:241003 OBSOLETE: Susceptibility to hepatitis due to voriconazole treatment False True True -Orphanet:241005 OBSOLETE: Susceptibility to hypersensitivity syndrome due to abacavir treatment False True True -Orphanet:241007 OBSOLETE: Susceptibility to hypoglycemia due to carbutamide treatment False True True -Orphanet:241009 OBSOLETE: Susceptibility to hypoglycemia due to glibenclamide treatment False True True -Orphanet:241011 OBSOLETE: Susceptibility to hypoglycemia due to gliclazide treatment False True True -Orphanet:241013 OBSOLETE: Susceptibility to hypoglycemia due to glimepiride treatment False True True -Orphanet:241015 OBSOLETE: Susceptibility to hypoglycemia due to glipizide treatment False True True -Orphanet:241017 OBSOLETE: Susceptibility to icterus due to raltegravir treatment False True True -Orphanet:241019 OBSOLETE: Susceptibility to neutropenia due to azathioprine treatment False True True -Orphanet:241021 OBSOLETE: Susceptibility to neutropenia due to mercaptopurine treatment False True True -Orphanet:241023 OBSOLETE: Susceptibility to prolonged paralysis due to cisatracurium treatment False True True -Orphanet:241025 OBSOLETE: Susceptibility to prolonged paralysis due to mivacurium treatment False True True -Orphanet:241027 OBSOLETE: Susceptibility to prolonged paralysis due to pancuronium treatment False True True -Orphanet:241029 OBSOLETE: Susceptibility to prolonged paralysis due to rocuronium treatment False True True -Orphanet:241031 OBSOLETE: Susceptibility to prolonged paralysis due to satracurium treatment False True True -Orphanet:241033 OBSOLETE: Susceptibility to prolonged paralysis due to vecuronium treatment False True True -Orphanet:241035 OBSOLETE: Susceptibility to toxic epidermal necrolysis due to allopurinol treatment False True True -Orphanet:241037 OBSOLETE: Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment False True True -Orphanet:241039 OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phenytoin treatment False True True -Orphanet:241041 OBSOLETE: Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment False True True -Orphanet:241045 OBSOLETE: Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation False True True Orphanet:2419 Lymphedema-ptosis syndrome False True True Orphanet:2431 Central bilateral macrogyria False True True Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 False True True @@ -9971,7 +580,6 @@ Orphanet:247846 OBSOLETE: Oligoarticular juvenile idiopathic arthritis without a Orphanet:247854 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies False True True Orphanet:247861 OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies False True True Orphanet:247871 OBSOLETE: Vitiligo-associated autoimmune disease False True True -Orphanet:248305 OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency False True True Orphanet:2486 Transverse limb deficiency-hemangioma syndrome False True True Orphanet:2506 Michels syndrome False True True Orphanet:2507 OBSOLETE: Mickleson syndrome False True True @@ -9984,12 +592,9 @@ Orphanet:2543 OBSOLETE: Microphthalmia-cataract syndrome False True True Orphanet:254707 Faisalabad histiocytosis False True True Orphanet:254712 Familial sinus histiocytosis with massive lymphadenopathy False True True Orphanet:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome False True True -Orphanet:254793 OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA False True True Orphanet:255117 OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness False True True Orphanet:255199 OBSOLETE: Sporadic Leigh syndrome False True True Orphanet:255225 OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy False True True -Orphanet:255241 Leigh syndrome with leukodystrophy False True True -Orphanet:255249 Leigh syndrome with nephrotic syndrome False True True Orphanet:2569 Moore-Federman syndrome False True True Orphanet:2580 OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome False True True Orphanet:2601 OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome False True True @@ -10033,18 +638,13 @@ Orphanet:263059 OBSOLETE: Uniparental disomy of chromosome 20 False True True Orphanet:263064 OBSOLETE: Uniparental disomy of chromosome 21 False True True Orphanet:263355 OBSOLETE: ATR-X-related syndrome False True True Orphanet:263417 Bartter syndrome with hypocalcemia False True True -Orphanet:263558 OBSOLETE: Peeling skin syndrome type C False True True -Orphanet:263676 OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features False True True Orphanet:263711 OBSOLETE: X chromosome anomaly False True True Orphanet:263798 OBSOLETE: Y chromosomal anomaly False True True Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B False True True Orphanet:2640 Lethal short-limb dwarfism, McAlister-Crane type False True True -Orphanet:2641 OBSOLETE: Micromelic dwarfism, Fryns type False True True Orphanet:264724 OBSOLETE: Langerhans cell histiocytosis specific to childhood False True True Orphanet:264750 OBSOLETE: Langerhans cell histiocytosis specific to adulthood False True True Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome False True True -Orphanet:264955 OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood False True True -Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C False True True Orphanet:2650 OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome False True True Orphanet:2654 Syndesmodysplasic dwarfism False True True Orphanet:2661 Dwarfism-tall vertebrae syndrome False True True @@ -10053,22 +653,7 @@ Orphanet:2676 Neuroectodermal-endocrine syndrome False True True Orphanet:2677 OBSOLETE: Neuroepithelioma False True True Orphanet:2679 OBSOLETE: Infantile axonal neuropathy False True True Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome False True True -Orphanet:268377 OBSOLETE: Total spina bifida aperta False True True -Orphanet:268384 OBSOLETE: Thoracolumbosacral spina bifida aperta False True True -Orphanet:268388 OBSOLETE: Lumbosacral spina bifida aperta False True True -Orphanet:268392 OBSOLETE: Cervical spina bifida aperta False True True -Orphanet:268397 OBSOLETE: Cervicothoracic spina bifida aperta False True True Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome False True True -Orphanet:268740 OBSOLETE: Upper thoracic spina bifida aperta False True True -Orphanet:268748 OBSOLETE: Total spina bifida cystica False True True -Orphanet:268752 OBSOLETE: Thoracolumbosacral spina bifida cystica False True True -Orphanet:268758 OBSOLETE: Lumbosacral spina bifida cystica False True True -Orphanet:268762 OBSOLETE: Cervical spina bifida cystica False True True -Orphanet:268766 OBSOLETE: Cervicothoracic spina bifida cystica False True True -Orphanet:268770 OBSOLETE: Upper thoracic spina bifida cystica False True True -Orphanet:268832 OBSOLETE: Lipoma associated with neurospinal dysraphism False True True -Orphanet:268835 Lipomyelomeningocele False True True -Orphanet:268838 OBSOLETE: Leptomyelolipoma False True True Orphanet:268871 OBSOLETE: Primary syringomyelia/hydromyelia False True True Orphanet:268874 OBSOLETE: Congenital hydromyelia False True True Orphanet:2689 Intermittent neutropenia False True True @@ -10079,7 +664,6 @@ Orphanet:2705 OBSOLETE: Oculocerebral dysplasia False True True Orphanet:2706 OBSOLETE: Oculocerebroacral syndrome False True True Orphanet:2708 OBSOLETE: Oculocerebroosseous syndrome False True True Orphanet:2716 OBSOLETE: Oculo-skeletal-renal syndrome False True True -Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome False True True Orphanet:2731 Taurodontia-absent teeth-sparse hair syndrome False True True Orphanet:2739 Onycho-tricho-dysplasia-neutropenia syndrome False True True Orphanet:2742 OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome False True True @@ -10103,49 +687,36 @@ Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration False True Tru Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis False True True Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone False True True Orphanet:280569 OBSOLETE: Rapidly progressive glomerulonephritis False True True -Orphanet:280651 OBSOLETE: Acrodysostosis with multiple hormone resistance False True True Orphanet:280663 Hermansky-Pudlak syndrome type 9 False True True -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis False True True Orphanet:2810 NON RARE IN EUROPE: Idiopathic facial palsy False True True Orphanet:281234 OBSOLETE: Congenital ichthyosis with trichothiodystrophy False True True Orphanet:2816 Spastic paraplegia-epilepsy-intellectual disability syndrome False True True -Orphanet:2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome False True True Orphanet:2829 Partington-Anderson syndrome False True True Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome False True True -Orphanet:284113 OBSOLETE: Prediction of susceptibility to adverse reaction due to mercaptopurine False True True Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis False True True Orphanet:284408 OBSOLETE: Glycerol kinase deficiency, infantile form False True True Orphanet:28455 OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus False True True Orphanet:2853 Serpentine fibula-polycystic kidneys syndrome False True True Orphanet:2860 OBSOLETE: Preeyasombat-Varavithya syndrome False True True -Orphanet:2861 OBSOLETE: Short stature-microcephaly-heart defect syndrome False True True Orphanet:2864 OBSOLETE: Short stature-prognathism-short femoral necks syndrome False True True Orphanet:2870 NON RARE IN EUROPE: Peyronie syndrome False True True Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome False True True Orphanet:2894 OBSOLETE: Pilotto syndrome False True True Orphanet:2895 Pinsky-Di George-Harley syndrome False True True -Orphanet:289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency False True True -Orphanet:2925 OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome False True True Orphanet:293190 OBSOLETE: Pleomorphic undifferentiated sarcoma False True True Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome False True True Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant False True True Orphanet:294049 Reunion Island Larsen-like syndrome False True True -Orphanet:294929 OBSOLETE: Terminal limb defects False True True -Orphanet:294931 OBSOLETE: Adactyly of hand False True True -Orphanet:294935 OBSOLETE: Split hand or/and split foot malformation False True True Orphanet:294937 OBSOLETE: Brachydactyly False True True Orphanet:294939 OBSOLETE: Preaxial polydactyly of fingers False True True Orphanet:294942 OBSOLETE: Postaxial polydactyly of fingers False True True Orphanet:294961 OBSOLETE: Syndromes with synostoses of limbs False True True -Orphanet:294990 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb False True True Orphanet:294992 OBSOLETE: Split hand False True True Orphanet:294994 OBSOLETE: Split foot False True True Orphanet:294996 OBSOLETE: Brachydactyly of fingers False True True Orphanet:294998 OBSOLETE: Brachydactyly of toes False True True Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome False True True Orphanet:295006 OBSOLETE: Preaxial polydactyly of toes False True True -Orphanet:295008 OBSOLETE: Postaxial polydactyly of toes False True True -Orphanet:295010 OBSOLETE: Central polydactyly of toes False True True Orphanet:295038 OBSOLETE: Patella aplasia/hypoplasia, unilateral False True True Orphanet:295041 OBSOLETE: Patella aplasia/hypoplasia, bilateral False True True Orphanet:295053 OBSOLETE: Amelia of upper limb, unilateral False True True @@ -10164,8 +735,6 @@ Orphanet:295077 OBSOLETE: Tibial hemimelia, unilateral False True True Orphanet:295079 OBSOLETE: Tibial hemimelia, bilateral False True True Orphanet:295081 OBSOLETE: Fibular hemimelia, unilateral False True True Orphanet:295083 OBSOLETE: Fibular hemimelia, bilateral False True True -Orphanet:295085 OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral False True True -Orphanet:295087 OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral False True True Orphanet:295089 OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral False True True Orphanet:295091 OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral False True True Orphanet:295093 OBSOLETE: Congenital absence of both forearm and hand, unilateral False True True @@ -10176,9 +745,6 @@ Orphanet:295101 OBSOLETE: Acheiria, unilateral False True True Orphanet:295103 OBSOLETE: Acheiria, bilateral False True True Orphanet:295105 OBSOLETE: Apodia, unilateral False True True Orphanet:295107 OBSOLETE: Apodia, bilateral False True True -Orphanet:295110 OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral False True True -Orphanet:295112 OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral False True True -Orphanet:295114 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral False True True Orphanet:295116 OBSOLETE: Adactyly of foot, unilateral False True True Orphanet:295118 OBSOLETE: Adactyly of foot, bilateral False True True Orphanet:295120 OBSOLETE: Split hand, unilateral False True True @@ -10209,10 +775,6 @@ Orphanet:295171 OBSOLETE: Central polydactyly of fingers, unilateral False True Orphanet:295173 OBSOLETE: Central polydactyly of fingers, bilateral False True True Orphanet:295175 OBSOLETE: Preaxial polydactyly of toes, unilateral False True True Orphanet:295177 OBSOLETE: Preaxial polydactyly of toes, bilateral False True True -Orphanet:295179 OBSOLETE: Postaxial polydactyly of toes, unilateral False True True -Orphanet:295181 OBSOLETE: Postaxial polydactyly of toes, bilateral False True True -Orphanet:295183 OBSOLETE: Central polydactyly of toes, unilateral False True True -Orphanet:295185 OBSOLETE: Central polydactyly of toes, bilateral False True True Orphanet:295205 OBSOLETE: Humero-radio-ulnar synostosis, unilateral False True True Orphanet:295207 OBSOLETE: Humero-radio-ulnar synostosis, bilateral False True True Orphanet:295209 OBSOLETE: Humero-radial synostosis, unilateral False True True @@ -10244,14 +806,9 @@ Orphanet:3065 X-linked intellectual disability-monoamine oxidase A metabolism an Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome False True True Orphanet:306519 OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria False True True Orphanet:306522 OBSOLETE: Genetic primary hypomagnesemia with normocalciuria False True True -Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary False True True Orphanet:306561 OBSOLETE: Autosomal dominant childhood-onset cortical cataract False True True -Orphanet:306566 OBSOLETE: Susceptibility to myopathies due to statin treatment False True True -Orphanet:306574 OBSOLETE: Methotrexate dose selection False True True -Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome False True True Orphanet:306597 OBSOLETE: X-linked Opitz G/BBB syndrome False True True Orphanet:3067 OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome False True True -Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature False True True Orphanet:3084 Mirhosseini-Holmes-Walton syndrome False True True Orphanet:308573 OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset False True True Orphanet:308604 OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset False True True @@ -10260,7 +817,6 @@ Orphanet:309139 OBSOLETE: Mitochondrial disorder due to a transcription or a tra Orphanet:3105 Robinow-like syndrome False True True Orphanet:3106 Robinow-Sorauf syndrome False True True Orphanet:3112 Patella aplasia-coxa vara-tarsal synostosis syndrome False True True -Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen False True True Orphanet:3118 Rudiger syndrome False True True Orphanet:3122 OBSOLETE: Sinus node disease-myopia syndrome False True True Orphanet:3123 Brittle hair syndrome, Sabinas type False True True @@ -10293,7 +849,6 @@ Orphanet:324982 OBSOLETE: Adult-onset SAPHO syndrome False True True Orphanet:324989 OBSOLETE: Juvenile-onset SAPHO syndrome False True True Orphanet:324999 JMP syndrome False True True Orphanet:325004 CANDLE syndrome False True True -Orphanet:3267 OBSOLETE: Familial lambdoid synostosis False True True Orphanet:3271 Radio-ulnar synostosis-retinal pigment abnormalities syndrome False True True Orphanet:3274 Granulomatous arthritis of childhood False True True Orphanet:328269 OBSOLETE: Rare bone disease with limb reduction defect False True True @@ -10301,15 +856,12 @@ Orphanet:3284 OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria Orphanet:3289 NON RARE IN EUROPE: Taurodontism False True True Orphanet:329206 OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome False True True Orphanet:329252 OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome False True True -Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency False True True Orphanet:329341 OBSOLETE: Limbic encephalitis with DPP6 antibodies False True True Orphanet:329998 OBSOLETE: Lymphomatous meningitis False True True Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 False True True Orphanet:330009 OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk False True True -Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome False True True Orphanet:3311 OBSOLETE: Infantile symmetrical thalamic degeneration False True True Orphanet:3313 OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome False True True -Orphanet:3315 OBSOLETE: Thiopurine S-methyltransferase deficiency False True True Orphanet:3323 Braddock-Carey syndrome False True True Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease False True True Orphanet:3331 OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome False True True @@ -10328,7 +880,6 @@ Orphanet:338 Familial multiple fibrofolliculoma False True True Orphanet:3390 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome False True True Orphanet:3391 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome False True True Orphanet:34 Pipecolic acidemia False True True -Orphanet:34145 NON RARE IN EUROPE: Berger disease False True True Orphanet:3419 OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome False True True Orphanet:3421 Cerebroretinal vasculopathy False True True Orphanet:3423 Vasquez-Hurst-Sotos syndrome False True True @@ -10342,13 +893,9 @@ Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E False T Orphanet:34521 Distal myopathy with early respiratory muscle involvement False True True Orphanet:34526 OBSOLETE: Genetic primary hypomagnesemia False True True Orphanet:34527 OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia False True True -Orphanet:3460 Torg-Winchester syndrome False True True Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria False True True -Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes False True True -Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection False True True Orphanet:35065 OBSOLETE: Idiopathic severe pneumococcemia False True True Orphanet:35066 NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis False True True -Orphanet:35098 OBSOLETE: Isolated plagiocephaly False True True Orphanet:35123 OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency False True True Orphanet:352298 OBSOLETE: Genetic muscular channelopathy False True True Orphanet:352482 OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement False True True @@ -10359,7 +906,6 @@ Orphanet:352613 Male infertility due to NANOS1 mutation False True True Orphanet:352694 OBSOLETE: Cobblestone lissencephaly type A False True True Orphanet:352699 OBSOLETE: Cobblestone lissencephaly type C False True True Orphanet:352704 OBSOLETE: Cobblestone lissencephaly type B False True True -Orphanet:352740 Ocular albinism with congenital sensorineural deafness False True True Orphanet:353225 NON RARE IN EUROPE: Primary adult open-angle glaucoma False True True Orphanet:35688 OBSOLETE: Madelung deformity False True True Orphanet:357 NON RARE IN EUROPE: Gilbert syndrome False True True @@ -10373,11 +919,8 @@ Orphanet:36414 OBSOLETE: Brain stem tumor False True True Orphanet:369894 OBSOLETE: Early infantile epileptic encephalopathy without suppression burst False True True Orphanet:369902 OBSOLETE: DDX59-related orofaciodigital syndrome False True True Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome False True True -Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type False True True Orphanet:370114 Combined cervical dystonia False True True Orphanet:370938 Salt-and-pepper syndrome False True True -Orphanet:371054 OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature False True True -Orphanet:371064 OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature False True True Orphanet:371439 OBSOLETE: Genetic cerebrovascular dementia False True True Orphanet:374 Goldenhar syndrome False True True Orphanet:37629 Neonatal neutropenia False True True @@ -10386,7 +929,6 @@ Orphanet:383 X-linked mixed deafness with perilymphatic gusher False True True Orphanet:387 NON RARE IN EUROPE: Hidradenitis suppurativa False True True Orphanet:391479 OBSOLETE: Syndromic frontonasal dysplasia False True True Orphanet:391658 OBSOLETE: Cowpox infection False True True -Orphanet:398980 OBSOLETE: Primary peritoneal serous/papillary carcinoma False True True Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis False True True Orphanet:401825 Autosomal recessive spastic paraplegia type 68 False True True Orphanet:406 NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia False True True @@ -10394,8 +936,6 @@ Orphanet:411 Hyperlipoproteinemia type 1 False True True Orphanet:411533 NON RARE IN EUROPE: Melanoma False True True Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome False True True Orphanet:412220 OBSOLETE: Ramsay Hunt syndrome type II False True True -Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 False True True -Orphanet:413690 OBSOLETE: Methotrexate toxicity or dose selection False True True Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung False True True Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy False True True Orphanet:415675 OBSOLETE: Small pox False True True @@ -10413,7 +953,6 @@ Orphanet:435808 OBSOLETE: ACAN-related skeletal dysplasia False True True Orphanet:437572 OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy False True True Orphanet:440 OBSOLETE: Familial hypospadias False True True Orphanet:441344 OBSOLETE: Autosomal recessive optic atrophy, OPA9 type False True True -Orphanet:443287 OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor False True True Orphanet:443301 OBSOLETE: HIV-related lung cancer False True True Orphanet:443304 OBSOLETE: HIV-related oropharyngeal cancer False True True Orphanet:443307 OBSOLETE: HIV-related anal cancer False True True @@ -10425,7 +964,6 @@ Orphanet:443322 OBSOLETE: HIV-related cervical cancer False True True Orphanet:443325 OBSOLETE: HIV-related Non-Hodgkin lymphoma False True True Orphanet:443328 OBSOLETE: HIV-related Kaposi sarcoma False True True Orphanet:447792 OBSOLETE: Hemochromatosis type 5 False True True -Orphanet:448348 OBSOLETE: X-linked acrogigantism due to a point mutation False True True Orphanet:448372 OBSOLETE: X-linked acrogigantism due to Xq26 microduplication False True True Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption False True True Orphanet:453 IBIDS syndrome False True True @@ -10433,10 +971,8 @@ Orphanet:45360 NON RARE IN EUROPE: Menière disease False True True Orphanet:454872 OBSOLETE: Type 1 interferonopathy with immunodeficiency False True True Orphanet:457252 Squamous cell carcinoma of the oral tongue False True True Orphanet:458713 NON RARE IN EUROPE: Specific language impairment False True True -Orphanet:458841 OBSOLETE: Primary lymphedema with associated anomalies False True True Orphanet:459353 OBSOLETE: C1 inhibitor deficiency False True True Orphanet:459530 OBSOLETE: Genetic primary lymphedema False True True -Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria False True True Orphanet:459696 NON RARE IN EUROPE: Juvenile idiopathic scoliosis False True True Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris False True True Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma False True True @@ -10448,7 +984,6 @@ Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teet Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer False True True Orphanet:466673 NON RARE IN EUROPE: Post-herpetic neuralgia False True True Orphanet:466732 OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome False True True -Orphanet:466801 OBSOLETE: LIMS2-related myopathy False True True Orphanet:477668 OBSOLETE: AymÚ-Gripp syndrome False True True Orphanet:477697 OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome False True True Orphanet:480773 OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome False True True @@ -10459,11 +994,8 @@ Orphanet:481481 OBSOLETE: Gastric neuroendocrine tumor type 4 False True True Orphanet:484 NON RARE IN EUROPE: Klinefelter syndrome False True True Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer False True True Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst False True True -Orphanet:493348 OBSOLETE: Vibratory angioedema False True True Orphanet:494348 Early-onset familial noncirrhotic portal hypertension False True True Orphanet:496 Thost-Unna palmoplantar keratoderma False True True -Orphanet:498700 OBSOLETE: Limbic encephalitis with neurexin-3 antibodies False True True -Orphanet:499004 OBSOLETE: Tuberculous meningitis False True True Orphanet:506124 OBSOLETE: Neuroendocrine tumor of small intestine False True True Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency False True True Orphanet:50838 NON RARE IN EUROPE: Carpal tunnel syndrome False True True @@ -10480,7 +1012,6 @@ Orphanet:52428 Congenital muscular dystrophy type 1C False True True Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome False True True Orphanet:537891 OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh False True True Orphanet:54238 Myotonic dystrophy type 3 False True True -Orphanet:553 OBSOLETE: Cushing syndrome False True True Orphanet:555 NON RARE IN EUROPE: Celiac disease False True True Orphanet:56965 Progressive bulbar paralysis of childhood False True True Orphanet:57194 OBSOLETE: Aseptic osteitis False True True @@ -10489,7 +1020,6 @@ Orphanet:58220 OBSOLETE: Microscopic colitis False True True Orphanet:619 NON RARE IN EUROPE: Primary ovarian failure False True True Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin False True True Orphanet:620 NON RARE IN EUROPE: Common mesentery False True True -Orphanet:623 NAME syndrome False True True Orphanet:625 NON RARE IN EUROPE: Atypical mole False True True Orphanet:63261 HERNS syndrome False True True Orphanet:63440 OBSOLETE: Isolated oxycephaly False True True @@ -10507,14 +1037,12 @@ Orphanet:680 Normokalemic periodic paralysis False True True Orphanet:68388 OBSOLETE: Neurofibromatosis False True True Orphanet:69127 NON RARE IN EUROPE: Immunoglobulin A deficiency False True True Orphanet:70470 OBSOLETE: Hyperlipoproteinemia type 5 False True True -Orphanet:70474 Leigh syndrome with cardiomyopathy False True True Orphanet:706 NON RARE IN EUROPE: Patent arterial duct False True True Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency False True True Orphanet:71269 OBSOLETE: Benign exophthalmos syndrome False True True Orphanet:71270 OBSOLETE: Auriculoocular anomalies-cleft lip syndrome False True True Orphanet:71291 Hereditary vascular retinopathy False True True Orphanet:71516 OBSOLETE: Mixed dystonia False True True -Orphanet:717 OBSOLETE: Catecholamine-producing tumor False True True Orphanet:719 OBSOLETE: Pili canulati False True True Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome False True True Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis False True True @@ -10524,7 +1052,6 @@ Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency False True Tru Orphanet:75501 OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type False True True Orphanet:75789 SIBIDS syndrome False True True Orphanet:75790 Pollitt syndrome False True True -Orphanet:759 NON RARE IN EUROPE: Central precocious puberty False True True Orphanet:77 OBSOLETE: Aniridia False True True Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis False True True Orphanet:77241 OBSOLETE: Lymphedema praecox False True True @@ -10534,11 +1061,9 @@ Orphanet:77302 Oculo-oto-facial dysplasia False True True Orphanet:77303 OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect False True True Orphanet:77304 OBSOLETE: Not NOTCH3-related small vessel disease of the brain False True True Orphanet:775 OBSOLETE: X-linked intellectual disability, Martinez type False True True -Orphanet:788 OBSOLETE: Hereditary resistance to anti-vitamin K False True True Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 False True True Orphanet:79132 OBSOLETE: Sparse hair-short stature-skin anomalies syndrome False True True Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture False True True -Orphanet:79211 OBSOLETE: Combined hyperlipidemia False True True Orphanet:79260 Glycogen storage disease type 1c False True True Orphanet:79261 Glycogen storage disease type 1d False True True Orphanet:79289 Niemann-Pick disease type D False True True @@ -10558,17 +1083,14 @@ Orphanet:79486 Cystic hygroma False True True Orphanet:79504 Ichthyosis hystrix gravior False True True Orphanet:802 NON RARE IN EUROPE: Multiple sclerosis False True True Orphanet:807 Sebastian syndrome False True True -Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia False True True Orphanet:825 NON RARE IN EUROPE: Ankylosing spondylitis False True True Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis False True True Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome False True True Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation False True True -Orphanet:83648 OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome False True True Orphanet:84096 OBSOLETE: Unknown leukodystrophy False True True Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome False True True Orphanet:850 May-Hegglin thrombocytopenia False True True Orphanet:85142 NON RARE IN EUROPE: Aldosterone-producing adenoma False True True -Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome False True True Orphanet:85281 OBSOLETE: MECP2 duplication syndrome False True True Orphanet:85289 X-linked intellectual disability, Vitale type False True True Orphanet:85291 X-linked intellectual disability, Wittwer type False True True @@ -10584,7 +1106,6 @@ Orphanet:862 NON RARE IN EUROPE: Hereditary essential tremor False True True Orphanet:86917 OBSOLETE: Lymphedema-cleft palate syndrome False True True Orphanet:872 OBSOLETE: Disorder in the hormonal synthesis with or without goiter False True True Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome False True True -Orphanet:89832 OBSOLETE: Syndromic lymphedema False True True Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin False True True Orphanet:89839 OBSOLETE: Epidermolysis bullosa simplex superficialis False True True Orphanet:89840 OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type False True True @@ -10624,14 +1145,11 @@ Orphanet:93216 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrom Orphanet:93217 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis False True True Orphanet:93218 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis False True True Orphanet:93220 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis False True True -Orphanet:93221 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes False True True -Orphanet:93222 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation False True True Orphanet:93275 Thanatophoric dysplasia, Glasgow variant False True True Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type False True True Orphanet:93301 Brachyolmia type 1, Hobaek type False True True Orphanet:93303 Brachyolmia type 1, Toledo type False True True Orphanet:93313 OBSOLETE: Multiple epiphyseal dysplasia, unclassified type False True True -Orphanet:93359 OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity False True True Orphanet:93365 OBSOLETE: CINCA syndrome with NLRP3 mutations False True True Orphanet:93367 OBSOLETE: CINCA syndrome without NLRP3 mutations False True True Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D False True True @@ -10648,8 +1166,6 @@ Orphanet:93469 OBSOLETE: Harmonic micromelia False True True Orphanet:93470 OBSOLETE: Dysharmonic micromelia False True True Orphanet:93471 OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly False True True Orphanet:93472 OBSOLETE: Dysmorphic syndrome associated with bone anomaly False True True -Orphanet:93550 OBSOLETE: Basement membrane disease False True True -Orphanet:93551 OBSOLETE: Secondary glomerular disease False True True Orphanet:93559 C3 deposition glomerulonephritis without proliferation False True True Orphanet:93564 OBSOLETE: Pediatric polyarteritis nodosa False True True Orphanet:93566 OBSOLETE: Pediatric Sjögren syndrome False True True @@ -10661,7 +1177,6 @@ Orphanet:93579 OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomal Orphanet:93580 OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly False True True Orphanet:93594 OBSOLETE: Alpha-1-antichymotrypsin deficiency False True True Orphanet:936 Succinic acidemia False True True -Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome False True True Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness False True True Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness False True True Orphanet:93668 OBSOLETE: Adult chronic recurrent multifocal osteomyelitis False True True @@ -10669,7 +1184,6 @@ Orphanet:93682 OBSOLETE: Pediatric Castleman disease False True True Orphanet:93686 OBSOLETE: Multicentric Castleman disease False True True Orphanet:93688 OBSOLETE: Non-idiopathic juvenile arthritis False True True Orphanet:93937 OBSOLETE: Terminal transverse defects of arm False True True -Orphanet:93942 OBSOLETE: Superior celosomia False True True Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome False True True Orphanet:93944 X-linked intellectual disability, Fichera type False True True Orphanet:93951 OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome False True True @@ -10680,12 +1194,9 @@ Orphanet:93961 OBSOLETE: Laryngeal dyskinesia False True True Orphanet:93962 OBSOLETE: Cervical dystonia False True True Orphanet:93963 OBSOLETE: Autosomal dominant focal dystonia, DYT7 type False True True Orphanet:93968 Meningocele False True True -Orphanet:93970 Holmes-Gang syndrome False True True Orphanet:93971 Chudley-Lowry-Hoar syndrome False True True -Orphanet:93972 Juberg-Marsidi syndrome False True True Orphanet:93973 Carpenter-Waziri syndrome False True True Orphanet:93974 Smith-Fineman-Myers syndrome False True True -Orphanet:93975 OBSOLETE: Renier-Gabreels-Jasper syndrome False True True Orphanet:94061 OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome False True True Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome False True True Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome False True True @@ -10697,7 +1208,6 @@ Orphanet:95449 OBSOLETE: Congenital aortic valve insufficiency False True True Orphanet:95458 OBSOLETE: Tricuspid valve prolapse False True True Orphanet:95484 OBSOLETE: Aneurysm or dilatation of ascending aorta False True True Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct False True True -Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery False True True Orphanet:95501 OBSOLETE: Congenital central diabetes insipidus False True True Orphanet:95504 OBSOLETE: Metastatic pituitary hormone deficiency False True True Orphanet:956 Acropectororenal dysplasia False True True @@ -10708,12 +1218,8 @@ Orphanet:95622 OBSOLETE: Radiation-induced hypopituitarism False True True Orphanet:95623 OBSOLETE: Posttraumatic hypopituitarism False True True Orphanet:95625 OBSOLETE: Posttraumatic diabetes insipidus False True True Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency False True True -Orphanet:95701 OBSOLETE: Congenital adrenal hypoplasia of maternal cause False True True Orphanet:95721 OBSOLETE: Thyroid pyramidal lobe False True True -Orphanet:96136 OBSOLETE: Non-distal monosomy 7p False True True -Orphanet:96152 OBSOLETE: Distal monosomy 20q False True True Orphanet:96164 OBSOLETE: Non-distal monosomy 20q False True True -Orphanet:96369 OBSOLETE: Early-onset schizophrenia False True True Orphanet:964 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome False True True Orphanet:965 Acromegaloid facial appearance syndrome False True True Orphanet:966 Hypertrichosis-acromegaloid facial appearance syndrome False True True @@ -10724,7 +1230,6 @@ Orphanet:97354 NON RARE IN EUROPE: Wernicke encephalopathy False True True Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst False True True Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy False True True Orphanet:97555 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy False True True -Orphanet:97556 Congenital and infantile nephrotic syndrome False True True Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis False True True Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria False True True Orphanet:97569 OBSOLETE: Unclassified glomerulonephritis False True True @@ -10802,7 +1307,6 @@ Orphanet:98339 OBSOLETE: Male infertility with normal virilization due to an acq Orphanet:98340 OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity False True True Orphanet:98341 OBSOLETE: Male infertility with normal virilization due to a systemic disease False True True Orphanet:98342 OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury False True True -Orphanet:98345 OBSOLETE: Rare idiopathic male infertility False True True Orphanet:98435 OBSOLETE: Protease inhibitor anomaly False True True Orphanet:98454 OBSOLETE: Platelet storage pool disease False True True Orphanet:98464 OBSOLETE: X-linked syndromic intellectual disability False True True @@ -10816,89 +1320,25 @@ Orphanet:98529 OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa Orphanet:98530 OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa False True True Orphanet:98531 OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa False True True Orphanet:98532 OBSOLETE: Tauopathy with a major tau at 60 kDa False True True -Orphanet:98554 OBSOLETE: Major induction processes eye anomaly False True True -Orphanet:98558 OBSOLETE: Rare eye disease due to a differentiation anomaly False True True -Orphanet:98559 OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease False True True Orphanet:98568 OBSOLETE: Congenital entropion False True True -Orphanet:98569 OBSOLETE: Secondary entropion False True True -Orphanet:98572 OBSOLETE: Canthal anomaly False True True -Orphanet:98573 OBSOLETE: Epicanthal fold False True True -Orphanet:98577 OBSOLETE: Kinetic eyelid anomaly False True True -Orphanet:98579 OBSOLETE: Congenital upper palpebral retraction False True True Orphanet:98580 OBSOLETE: Palpebral tumor False True True Orphanet:98581 OBSOLETE: Palpebral epidermal tumor False True True Orphanet:98582 OBSOLETE: Benign tumor of palpebral epidermis False True True -Orphanet:98583 OBSOLETE: Precancerous lesion of palpebral epidermis False True True Orphanet:98584 OBSOLETE: Malignant tumor of palpebral epidermis False True True -Orphanet:98585 OBSOLETE: Palpebral sebaceous gland tumor False True True -Orphanet:98586 OBSOLETE: Pigmented palpebral tumor False True True -Orphanet:98587 OBSOLETE: Palpebral lentiginosis False True True Orphanet:98588 OBSOLETE: Palpebral nevus False True True Orphanet:98589 OBSOLETE: Palpebral malignant melanoma False True True -Orphanet:98590 OBSOLETE: Palpebral piliary tumor False True True -Orphanet:98591 OBSOLETE: Mesenchymatous palpebral tumor False True True -Orphanet:98592 OBSOLETE: Palpebral tumor with a vascular malformation False True True Orphanet:98593 OBSOLETE: Neurogenic palpebral tumor False True True -Orphanet:98595 OBSOLETE: Eyebrow/eyelashes hypertrichosis False True True -Orphanet:98596 OBSOLETE: Eyebrow hypertrophy False True True -Orphanet:98597 OBSOLETE: Eyelashes hypertrophy False True True -Orphanet:98598 OBSOLETE: Congenital absence of the eyebrow/eyelashes False True True -Orphanet:98599 OBSOLETE: Eyebrow/eyelashes structural anomaly False True True -Orphanet:98600 OBSOLETE: Eyebrow/eyelashes distichiasis False True True -Orphanet:98601 OBSOLETE: Eyebrow/eyelashes pigmentation anomaly False True True -Orphanet:98603 OBSOLETE: Secretory apparatus of the lacrimal system anomaly False True True -Orphanet:98608 OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system False True True -Orphanet:98611 OBSOLETE: Conjunctival vascular anomaly False True True -Orphanet:98612 OBSOLETE: Conjunctival hemangioma or hemolymphangioma False True True -Orphanet:98613 OBSOLETE: Conjunctival telangiectasia False True True -Orphanet:98614 OBSOLETE: Conjunctival lymphangiectasia False True True -Orphanet:98615 OBSOLETE: Pigmented conjunctival lesion False True True Orphanet:98616 OBSOLETE: Conjunctival tumor False True True -Orphanet:98617 OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma False True True -Orphanet:98620 OBSOLETE: Syndromic myopia False True True Orphanet:98629 OBSOLETE: Rare glaucoma False True True -Orphanet:98632 OBSOLETE: Glaucoma associated with neural crest cell migration anomaly False True True -Orphanet:98633 OBSOLETE: Goniodysgenesis False True True -Orphanet:98636 OBSOLETE: Corneoiridogoniodysgenesis False True True -Orphanet:98637 OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly False True True -Orphanet:98643 OBSOLETE: Systemic disease with cataract False True True -Orphanet:98645 OBSOLETE: Cerebral disease with cataract False True True -Orphanet:98647 OBSOLETE: Cardiac disease with cataract False True True -Orphanet:98657 OBSOLETE: Genetic vitreous-retinal disease False True True -Orphanet:98662 OBSOLETE: Unclassified familial retinal dystrophy False True True Orphanet:98664 OBSOLETE: Genetic macular dystrophy False True True -Orphanet:98665 OBSOLETE: Colobomatous and areolar dystrophy False True True -Orphanet:98666 OBSOLETE: Unclassified primitive or secondary maculopathy False True True -Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration False True True Orphanet:98669 OBSOLETE: Congenital vitreoretinal dysplasia False True True Orphanet:98670 OBSOLETE: Vitreoretinal degeneration False True True Orphanet:98675 OBSOLETE: Autosomal recessive optic atrophy False True True Orphanet:98677 OBSOLETE: Autosomal recessive syndromic optic atrophy False True True Orphanet:98678 OBSOLETE: X-linked recessive optic atrophy False True True Orphanet:98682 NON RARE IN EUROPE: Essential strabismus False True True -Orphanet:98689 OBSOLETE: Myopathy with eye involvement False True True -Orphanet:98690 OBSOLETE: Myasthenic syndrome with eye involvement False True True -Orphanet:98691 OBSOLETE: Abnormal eye movements False True True -Orphanet:98692 OBSOLETE: Nervous system anomaly with eye involvement False True True -Orphanet:98693 OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly False True True -Orphanet:98694 OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly False True True -Orphanet:98695 OBSOLETE: Mitochondrial disease with eye involvement False True True -Orphanet:98696 OBSOLETE: Genodermatosis with ocular features False True True -Orphanet:98697 OBSOLETE: Genetic keratinization disorder associated with ocular features False True True -Orphanet:98698 OBSOLETE: Ichthyosis associated with ocular features False True True -Orphanet:98699 OBSOLETE: Syndromic ichthyosis associated with ocular features False True True -Orphanet:98700 OBSOLETE: Pigmentation disorder with eye involvement False True True -Orphanet:98701 OBSOLETE: Phakomatosis with eye involvement False True True Orphanet:98702 OBSOLETE: Connective tissue disease with eye involvement False True True -Orphanet:98703 OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features False True True -Orphanet:98704 OBSOLETE: Onycho-patellar syndrome with eye involvement False True True -Orphanet:98708 OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism False True True Orphanet:98709 OBSOLETE: Ectodermal malformation syndrome associated with ocular features False True True -Orphanet:98710 OBSOLETE: Metabolic disease associated with ocular features False True True -Orphanet:98711 OBSOLETE: Metabolic disease with corneal opacity False True True -Orphanet:98712 OBSOLETE: Metabolic disease with cataract False True True -Orphanet:98713 OBSOLETE: Metabolic disease with pigmentary retinitis False True True -Orphanet:98714 OBSOLETE: Metabolic disease with macular cherry-red spot False True True Orphanet:98726 OBSOLETE: Pulmonary artery/pulmonary branch anomaly False True True Orphanet:98730 OBSOLETE: Atrioventricular discordance False True True Orphanet:98732 OBSOLETE: Syndrome associated with a congenital cardiopathy False True True @@ -10959,7 +1399,6 @@ Orphanet:99706 OBSOLETE: Progeria-associated arthropathy False True True Orphanet:99715 MASS syndrome False True True Orphanet:99722 OBSOLETE: Sporadic achalasia False True True Orphanet:99723 OBSOLETE: Familial esophageal achalasia False True True -Orphanet:99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 False True True Orphanet:99764 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 False True True Orphanet:99777 Achalasia-alacrimia syndrome False True True Orphanet:99781 OBSOLETE: Familial articular chondrocalcinosis type 1 False True True @@ -10977,9 +1416,7 @@ Orphanet:99874 OBSOLETE: Adult pulmonary Langerhans cell histiocytosis False Tru Orphanet:99875 OBSOLETE: Ehlers-Danlos syndrome type 7A False True True Orphanet:99876 OBSOLETE: Ehlers-Danlos syndrome type 7B False True True Orphanet:99877 OBSOLETE: Familial parathyroid adenoma False True True -Orphanet:99878 OBSOLETE: Primary parathyroid hyperplasia False True True Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma False True True -Orphanet:99893 OBSOLETE: ACTH-independent Cushing syndrome False True True Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency False True True Orphanet:99972 OBSOLETE: Immunoglobulin A1 deficiency False True True Orphanet:99973 OBSOLETE: Immunoglobulin A2 deficiency False True True @@ -11000,3 +1437,9480 @@ Orphanet:C050 obsolete clinical entity False True True Orphanet:C051 obsolete group of disorder False True True Orphanet:C052 obsolete disorder False True True Orphanet:C053 obsolete subtype of disorder False True True +Orphanet:10 48,XXYY syndrome True False False +Orphanet:100 Ataxia-telangiectasia True False False +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness True False False +Orphanet:100000 Reticular perineurioma True False False +Orphanet:100001 Sclerosing perineurioma True False False +Orphanet:100002 Extraneural perineurioma True False False +Orphanet:100003 Intraneural perineurioma True False False +Orphanet:100006 ABeta amyloidosis, Dutch type True False False +Orphanet:100008 ACys amyloidosis True False False +Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A True False False +Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B True False False +Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C True False False +Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D True False False +Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E True False False +Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F True False False +Orphanet:100019 Refractory anemia with excess blasts type 1 True False False +Orphanet:100020 Refractory anemia with excess blasts type 2 True False False +Orphanet:100021 Primary plasmacytoma of the bone True False False +Orphanet:100022 Extramedullary soft tissue plasmacytoma True False False +Orphanet:100024 Mu-heavy chain disease True False False +Orphanet:100025 Alpha-heavy chain disease True False False +Orphanet:100026 Gamma-heavy chain disease True False False +Orphanet:100031 Hypoplastic amelogenesis imperfecta True False False +Orphanet:100032 Hypocalcified amelogenesis imperfecta True False False +Orphanet:100033 Hypomaturation amelogenesis imperfecta True False False +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism True False False +Orphanet:100035 Solitary necrotic nodule of the liver True False False +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A True False False +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B True False False +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C True False False +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D True False False +Orphanet:100047 Esophageal duplication cyst True False False +Orphanet:100048 Tubular duplication of the esophagus True False False +Orphanet:100050 Hereditary angioedema type 1 True False False +Orphanet:100051 Hereditary angioedema type 2 True False False +Orphanet:100054 F12-related hereditary angioedema with normal C1Inh True False False +Orphanet:100055 Acquired angioedema type 2 True False False +Orphanet:100056 Acquired angioedema type 1 True False False +Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema True False False +Orphanet:100067 Waterhouse-Friderichsen syndrome True False False +Orphanet:100069 Semantic dementia True False False +Orphanet:100070 Progressive non-fluent aphasia True False False +Orphanet:100071 Mosaic trisomy 3 True False False +Orphanet:100073 Neurogenic thoracic outlet syndrome True False False +Orphanet:100075 Neuroendocrine tumor of stomach True False False +Orphanet:100078 Ileal neuroendocrine tumor True False False +Orphanet:100079 Neuroendocrine neoplasm of appendix True False False +Orphanet:100080 Neuroendocrine tumor of the colon True False False +Orphanet:100081 Neuroendocrine tumor of the rectum True False False +Orphanet:100082 Neuroendocrine tumor of anal canal True False False +Orphanet:100083 Laryngeal neuroendocrine tumor True False False +Orphanet:100084 Middle ear neuroendocrine tumor True False False +Orphanet:100085 Primary hepatic neuroendocrine carcinoma True False False +Orphanet:100086 Gallbladder neuroendocrine tumor True False False +Orphanet:100087 Rare thyroid tumor True False False +Orphanet:100088 Rare thyroid carcinoma True False False +Orphanet:100090 Rare parathyroid tumor True False False +Orphanet:100091 Adrenal/paraganglial tumor True False False +Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm True False False +Orphanet:100093 Carcinoid syndrome True False False +Orphanet:100094 Multiple polyglandular tumor True False False +Orphanet:1001 2q37 microdeletion syndrome True False False +Orphanet:100100 Thymic tumor True False False +Orphanet:100101 Neuroendocrine tumor with other location True False False +Orphanet:1003 Scalp defects-postaxial polydactyly syndrome True False False +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome True False False +Orphanet:1006 Alopecia antibody deficiency True False False +Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome True False False +Orphanet:100924 Porphyria due to ALA dehydratase deficiency True False False +Orphanet:100973 FRAXE intellectual disability True False False +Orphanet:100974 FRAXF syndrome True False False +Orphanet:100976 Bathing suit ichthyosis True False False +Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome True False False +Orphanet:100979 Autosomal dominant complex spastic paraplegia True False False +Orphanet:100980 Autosomal dominant pure spastic paraplegia True False False +Orphanet:100981 Autosomal recessive complex spastic paraplegia True False False +Orphanet:100982 Autosomal recessive pure spastic paraplegia True False False +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 True False False +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 True False False +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A True False False +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 True False False +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 True False False +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 True False False +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 True False False +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 True False False +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 True False False +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 True False False +Orphanet:100997 X-linked spastic paraplegia type 16 True False False +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 True False False +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 True False False +Orphanet:101 Dentatorubral pallidoluysian atrophy True False False +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia True False False +Orphanet:101000 Autosomal recessive spastic paraplegia type 20 True False False +Orphanet:101001 Autosomal recessive spastic paraplegia type 21 True False False +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 True False False +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 True False False +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 True False False +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 True False False +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 True False False +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 True False False +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 True False False +Orphanet:101010 Autosomal spastic paraplegia type 30 True False False +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 True False False +Orphanet:101016 Romano-Ward syndrome True False False +Orphanet:101023 Cleft hard palate True False False +Orphanet:101028 Transaldolase deficiency True False False +Orphanet:101029 Sub-cortical nodular heterotopia True False False +Orphanet:101030 Subependymal nodular heterotopia True False False +Orphanet:101039 Female restricted epilepsy with intellectual disability True False False +Orphanet:101041 Familial hypofibrinogenemia True False False +Orphanet:101043 Congenital aortic valve dysplasia True False False +Orphanet:101046 Autosomal dominant epilepsy with auditory features True False False +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 True False False +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 True False False +Orphanet:101063 Situs inversus totalis True False False +Orphanet:101068 Congenital stromal corneal dystrophy True False False +Orphanet:101070 Bilateral frontoparietal polymicrogyria True False False +Orphanet:101071 Unilateral hemispheric polymicrogyria True False False +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 True False False +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 True False False +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 True False False +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 True False False +Orphanet:101081 Charcot-Marie-Tooth disease type 1A True False False +Orphanet:101082 Charcot-Marie-Tooth disease type 1B True False False +Orphanet:101083 Charcot-Marie-Tooth disease type 1C True False False +Orphanet:101084 Charcot-Marie-Tooth disease type 1D True False False +Orphanet:101085 Charcot-Marie-Tooth disease type 1F True False False +Orphanet:101088 X-linked hyper-IgM syndrome True False False +Orphanet:101089 Hyper-IgM syndrome type 2 True False False +Orphanet:101090 Hyper-IgM syndrome type 3 True False False +Orphanet:101091 Hyper-IgM syndrome type 4 True False False +Orphanet:101092 Hyper-IgM syndrome type 5 True False False +Orphanet:101096 Aregenerative anemia True False False +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness True False False +Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 True False False +Orphanet:101102 Charcot-Marie-Tooth disease type 2H True False False +Orphanet:101104 Marin-Amat syndrome True False False +Orphanet:101108 Spinocerebellar ataxia type 23 True False False +Orphanet:101109 Spinocerebellar ataxia type 28 True False False +Orphanet:101110 Spinocerebellar ataxia type 20 True False False +Orphanet:101111 Spinocerebellar ataxia type 25 True False False +Orphanet:101112 Spinocerebellar ataxia type 26 True False False +Orphanet:101150 Autosomal recessive dopa-responsive dystonia True False False +Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome True False False +Orphanet:101330 Porphyria cutanea tarda True False False +Orphanet:101334 African tick typhus True False False +Orphanet:101351 Familial isolated congenital asplenia True False False +Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome True False False +Orphanet:101433 Rare urogenital disease True False False +Orphanet:101435 Rare genetic eye disease True False False +Orphanet:101685 Rare non-syndromic intellectual disability True False False +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis True False False +Orphanet:101932 Anomaly of the mitral subvalvular apparatus True False False +Orphanet:101934 Genetic cardiac rhythm disease True False False +Orphanet:101936 Rare gastroesophageal disease True False False +Orphanet:101937 Rare pancreatic disease True False False +Orphanet:101938 Rare vascular liver disease True False False +Orphanet:101939 Rare parenchymal liver disease True False False +Orphanet:101940 Rare metabolic liver disease True False False +Orphanet:101941 Rare biliary tract disease True False False +Orphanet:101943 Rare hepatic and biliary tract tumor True False False +Orphanet:101944 Rare pulmonary disease True False False +Orphanet:101945 Rare bronchopulmonary tumor True False False +Orphanet:101950 Rare eye tumor True False False +Orphanet:101952 Rare diabetes mellitus True False False +Orphanet:101953 Rare dyslipidemia True False False +Orphanet:101954 Rare adrenal disease True False False +Orphanet:101955 Rare thyroid disease True False False +Orphanet:101956 Polyendocrinopathy True False False +Orphanet:101957 Pituitary deficiency True False False +Orphanet:101958 Primary adrenal insufficiency True False False +Orphanet:101959 Chronic primary adrenal insufficiency True False False +Orphanet:101960 Genetic chronic primary adrenal insufficiency True False False +Orphanet:101963 Acquired chronic primary adrenal insufficiency True False False +Orphanet:101972 Combined T and B cell immunodeficiency True False False +Orphanet:101977 Immunodeficiency predominantly affecting antibody production True False False +Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect True False False +Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity True False False +Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly True False False +Orphanet:101995 Periodic fever syndrome True False False +Orphanet:101997 Primary immunodeficiency True False False +Orphanet:101998 Rare epilepsy True False False +Orphanet:102 Multiple system atrophy True False False +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease True False False +Orphanet:102000 Medullar disease True False False +Orphanet:102002 Rare ataxia True False False +Orphanet:102003 Rare movement disorder True False False +Orphanet:102005 Brain inflammatory disease True False False +Orphanet:102006 Neurovascular malformation True False False +Orphanet:102009 Classic lissencephaly True False False +Orphanet:102010 Other syndrome with lissencephaly as a major feature True False False +Orphanet:102011 Lissencephaly type 3 True False False +Orphanet:102012 Pure hereditary spastic paraplegia True False False +Orphanet:102013 Complex hereditary spastic paraplegia True False False +Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy True False False +Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy True False False +Orphanet:102020 Autosomal monosomy True False False +Orphanet:102021 Rickettsial disease True False False +Orphanet:102022 Spotted fever rickettsiosis True False False +Orphanet:102023 Typhus-group rickettsiosis True False False +Orphanet:102024 Human herpesvirus 8-related disorder True False False +Orphanet:1021 Amaurosis-hypertrichosis syndrome True False False +Orphanet:102237 Unexplained periodic fever syndrome True False False +Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability True False False +Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability True False False +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type True False False +Orphanet:102369 Rare syndromic intellectual disability True False False +Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent True False False +Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor True False False +Orphanet:1027 Autosomal recessive amelia True False False +Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation True False False +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome True False False +Orphanet:1031 Enamel-renal syndrome True False False +Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria True False False +Orphanet:1037 Arthrogryposis multiplex congenita True False False +Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency True False False +Orphanet:103908 Congenital sodium diarrhea True False False +Orphanet:103909 Trehalase deficiency True False False +Orphanet:103910 Congenital enterocyte heparan sulfate deficiency True False False +Orphanet:103918 Tropical pancreatitis True False False +Orphanet:103919 Autoimmune pancreatitis True False False +Orphanet:103920 Undetermined colitis True False False +Orphanet:104 Leber hereditary optic neuropathy True False False +Orphanet:1040 Metaphyseal anadysplasia True False False +Orphanet:104004 Intestinal disease due to vitamin absorption anomaly True False False +Orphanet:104005 Intestinal disease due to fat malabsorption True False False +Orphanet:104006 Congenital intestinal disease due to an enzymatic defect True False False +Orphanet:104013 Metabolic disease with intestinal involvement True False False +Orphanet:104075 Adenocarcinoma of the small intestine True False False +Orphanet:104076 Leiomyosarcoma of small intestine True False False +Orphanet:104077 Myopathic intestinal pseudoobstruction True False False +Orphanet:104078 Unclassified intestinal pseudoobstruction True False False +Orphanet:1041 Hydrops fetalis True False False +Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome True False False +Orphanet:1047 Sideroblastic anemia True False False +Orphanet:1048 Isolated anencephaly/exencephaly True False False +Orphanet:105 Atresia of urethra True False False +Orphanet:1051 Ramos-Arroyo syndrome True False False +Orphanet:1052 Mosaic variegated aneuploidy syndrome True False False +Orphanet:1053 Vein of Galen aneurysmal malformation True False False +Orphanet:1054 Aneurysm of sinus of Valsalva True False False +Orphanet:1055 Congenital left ventricular aneurysm True False False +Orphanet:1059 Blue rubber bleb nevus True False False +Orphanet:1062 Hereditary neurocutaneous malformation True False False +Orphanet:1063 Tufted angioma True False False +Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome True False False +Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome True False False +Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome True False False +Orphanet:1068 Aniridia-intellectual disability syndrome True False False +Orphanet:1069 Aniridia-absent patella syndrome True False False +Orphanet:107 BOR syndrome True False False +Orphanet:1070 Anisakiasis True False False +Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome True False False +Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome True False False +Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome True False False +Orphanet:1077 Dental ankylosis True False False +Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome True False False +Orphanet:108 Babesiosis True False False +Orphanet:1081 Coronary artery congenital malformation True False False +Orphanet:1083 Microlissencephaly True False False +Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects True False False +Orphanet:108959 Non-syndromic esophageal malformation True False False +Orphanet:108961 Syndromic esophageal malformation True False False +Orphanet:108963 Non-syndromic gastroduodenal malformation True False False +Orphanet:108965 Syndromic gastroduodenal malformation True False False +Orphanet:108973 Syndromic visceral malformation True False False +Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation True False False +Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation True False False +Orphanet:108989 Non-syndromic central nervous system malformation True False False +Orphanet:108991 Syndrome with a central nervous system malformation as a major feature True False False +Orphanet:108993 Non-syndromic respiratory or mediastinal malformation True False False +Orphanet:108995 Syndromic respiratory or mediastinal malformation True False False +Orphanet:108997 Rare anemia True False False +Orphanet:108999 Rare disorder due to toxic effects True False False +Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome True False False +Orphanet:109007 Arthrogryposis syndrome True False False +Orphanet:109009 Syndrome with limb malformations as a major feature True False False +Orphanet:109011 Non-syndromic limb malformation True False False +Orphanet:1094 Anonychia-microcephaly syndrome True False False +Orphanet:11 Pentasomy X True False False +Orphanet:110 Bardet-Biedl syndrome True False False +Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome True False False +Orphanet:1104 Anophthalmia plus syndrome True False False +Orphanet:1106 Microphthalmia with limb anomalies True False False +Orphanet:111 Barth syndrome True False False +Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome True False False +Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome True False False +Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome True False False +Orphanet:1114 Aplasia cutis congenita True False False +Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome True False False +Orphanet:1117 Aplasia cutis-myopia syndrome True False False +Orphanet:1118 Fibular aplasia-ectrodactyly syndrome True False False +Orphanet:112 Bartter syndrome True False False +Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome True False False +Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome True False False +Orphanet:1122 Ulnar hypoplasia-split foot syndrome True False False +Orphanet:1123 Caudal appendage-deafness syndrome True False False +Orphanet:1125 Ocular motor apraxia, Cogan type True False False +Orphanet:1126 Aprosencephaly cerebellar dysgenesis True False False +Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome True False False +Orphanet:113 Bazex-Dupré-Christol syndrome True False False +Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome True False False +Orphanet:1131 X-linked mandibulofacial dysostosis True False False +Orphanet:1132 Aortic arch defects True False False +Orphanet:1133 AREDYLD syndrome True False False +Orphanet:1134 Isolated arrhinia True False False +Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome True False False +Orphanet:1138 Abnormal origin of the pulmonary artery True False False +Orphanet:114 Auriculoosteodysplasia True False False +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita True False False +Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome True False False +Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy True False False +Orphanet:1146 Distal arthrogryposis type 1 True False False +Orphanet:1147 Sheldon-Hall syndrome True False False +Orphanet:1149 Kuskokwim syndrome True False False +Orphanet:115 Congenital contractural arachnodactyly True False False +Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome True False False +Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome True False False +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood True False False +Orphanet:116 Beckwith-Wiedemann syndrome True False False +Orphanet:1160 Chylous ascites True False False +Orphanet:1163 Aspergillosis True False False +Orphanet:1164 Allergic bronchopulmonary aspergillosis True False False +Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris True False False +Orphanet:1168 Ataxia-oculomotor apraxia type 1 True False False +Orphanet:117 Behçet disease True False False +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 True False False +Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome True False False +Orphanet:1172 Autosomal recessive cerebellar ataxia True False False +Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome True False False +Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome True False False +Orphanet:1175 X-linked progressive cerebellar ataxia True False False +Orphanet:117569 Rare intestinal disease True False False +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes True False False +Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome True False False +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia True False False +Orphanet:118 Beta-mannosidosis True False False +Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome True False False +Orphanet:1182 Spastic ataxia with congenital miosis True False False +Orphanet:1183 Opsoclonus-myoclonus syndrome True False False +Orphanet:1184 Ataxia-photosensitivity-short stature syndrome True False False +Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome True False False +Orphanet:1186 Infantile-onset spinocerebellar ataxia True False False +Orphanet:1187 Lethal ataxia with deafness and optic atrophy True False False +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome True False False +Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 True False False +Orphanet:1190 Atelosteogenesis type I True False False +Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome True False False +Orphanet:1193 Atkin-Flaitz syndrome True False False +Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy True False False +Orphanet:1195 Congenital atransferrinemia True False False +Orphanet:1198 Colonic atresia True False False +Orphanet:1199 Esophageal atresia True False False +Orphanet:1200 Burn-McKeown syndrome True False False +Orphanet:1201 Small bowel atresia True False False +Orphanet:1202 Larynx atresia True False False +Orphanet:1203 Duodenal atresia True False False +Orphanet:1205 Mitral atresia True False False +Orphanet:1207 Pulmonary atresia with ventricular septal defect True False False +Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome True False False +Orphanet:1209 Tricuspid atresia True False False +Orphanet:1214 Progressive hemifacial atrophy True False False +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome True False False +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy True False False +Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome True False False +Orphanet:122 Birt-Hogg-Dubé syndrome True False False +Orphanet:1221 Cheilitis glandularis True False False +Orphanet:1223 Balantidiasis True False False +Orphanet:1225 Baller-Gerold syndrome True False False +Orphanet:1226 Bamforth-Lazarus syndrome True False False +Orphanet:1227 Bangstad syndrome True False False +Orphanet:1228 Banki syndrome True False False +Orphanet:1229 Congenital intrauterine infection-like syndrome True False False +Orphanet:123 Björnstad syndrome True False False +Orphanet:1231 Barber-Say syndrome True False False +Orphanet:1234 Bartsocas-Papas syndrome True False False +Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome True False False +Orphanet:1237 Beemer-Ertbruggen syndrome True False False +Orphanet:124 Diamond-Blackfan anemia True False False +Orphanet:1240 Metaphyseal acroscyphodysplasia True False False +Orphanet:1241 Bencze syndrome True False False +Orphanet:1243 Best vitelliform macular dystrophy True False False +Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome True False False +Orphanet:1247 Schistosomiasis True False False +Orphanet:1248 Maxillonasal dysplasia True False False +Orphanet:125 Bloom syndrome True False False +Orphanet:1252 Blepharonasofacial malformation syndrome True False False +Orphanet:1253 Ascher syndrome True False False +Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome True False False +Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome True False False +Orphanet:1261 Bonnemann-Meinecke-Reich syndrome True False False +Orphanet:1262 Böök syndrome True False False +Orphanet:1263 Boomerang dysplasia True False False +Orphanet:1264 Tricho-retino-dento-digital syndrome True False False +Orphanet:1267 Botulism True False False +Orphanet:127 Borjeson-Forssman-Lehmann syndrome True False False +Orphanet:1270 Bowen-Conradi syndrome True False False +Orphanet:1272 Aymé-Gripp syndrome True False False +Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome True False False +Orphanet:1276 Brachydactyly-arterial hypertension syndrome True False False +Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome True False False +Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome True False False +Orphanet:128 Diphyllobothriasis True False False +Orphanet:129 Pseudopelade of Brocq True False False +Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome True False False +Orphanet:1293 Brachyolmia True False False +Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome True False False +Orphanet:1296 Lambert syndrome True False False +Orphanet:1297 Branchio-oculo-facial syndrome True False False +Orphanet:1299 Branchioskeletogenital syndrome True False False +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency True False False +Orphanet:130 Brugada syndrome True False False +Orphanet:1300 Autosomal dominant popliteal pterygium syndrome True False False +Orphanet:1302 Cryptogenic organizing pneumonia True False False +Orphanet:1304 Brucellosis True False False +Orphanet:1305 Feingold syndrome True False False +Orphanet:1307 Distal limb deficiencies-micrognathia syndrome True False False +Orphanet:1308 C syndrome True False False +Orphanet:1309 Medullary sponge kidney True False False +Orphanet:131 Budd-Chiari syndrome True False False +Orphanet:1310 Caffey disease True False False +Orphanet:1313 Infantile choroidocerebral calcification syndrome True False False +Orphanet:1314 Symmetrical thalamic calcifications True False False +Orphanet:1318 Campomelia, Cumming type True False False +Orphanet:1319 Camptobrachydactyly True False False +Orphanet:132 Hereditary butyrylcholinesterase deficiency True False False +Orphanet:1320 Idiopathic camptocormia True False False +Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome True False False +Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome True False False +Orphanet:1325 Camptodactyly-taurinuria syndrome True False False +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 True False False +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 True False False +Orphanet:1328 Camurati-Engelmann disease True False False +Orphanet:1329 Complete atrioventricular septal defect True False False +Orphanet:133 Chronic beryllium disease True False False +Orphanet:1330 Partial atrioventricular septal defect True False False +Orphanet:1331 Familial prostate cancer True False False +Orphanet:1332 Medullary thyroid carcinoma True False False +Orphanet:1333 Familial pancreatic carcinoma True False False +Orphanet:1334 Chronic mucocutaneous candidiasis True False False +Orphanet:1335 Pentalogy of Cantrell True False False +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome True False False +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome True False False +Orphanet:134 Beta-ketothiolase deficiency True False False +Orphanet:1340 Cardiofaciocutaneous syndrome True False False +Orphanet:1342 Heart-hand syndrome type 3 True False False +Orphanet:1344 Atrial standstill True False False +Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome True False False +Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss True False False +Orphanet:135 CACH syndrome True False False +Orphanet:1350 Heart-hand syndrome type 2 True False False +Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome True False False +Orphanet:1354 Heart defects-limb shortening syndrome True False False +Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome True False False +Orphanet:1358 Carey-Fineman-Ziter syndrome True False False +Orphanet:1359 Carney complex True False False +Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy True False False +Orphanet:1361 Carnosinase deficiency True False False +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia True False False +Orphanet:1368 Cataract-ataxia-deafness syndrome True False False +Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome True False False +Orphanet:137 Congenital disorder of glycosylation True False False +Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome True False False +Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome True False False +Orphanet:137577 Neonatal hypoxic and ischemic brain injury True False False +Orphanet:137583 Vulvar intraepithelial neoplasia True False False +Orphanet:137593 Infectious epithelial keratitis True False False +Orphanet:137596 Neurotrophic keratopathy True False False +Orphanet:137599 Herpes simplex virus stromal keratitis True False False +Orphanet:137602 Corneal endotheliitis True False False +Orphanet:137605 Legius syndrome True False False +Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome True False False +Orphanet:137617 Nephrogenic systemic fibrosis True False False +Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome True False False +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency True False False +Orphanet:137628 Cardiac anomalies-heterotaxy syndrome True False False +Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome True False False +Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome True False False +Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome True False False +Orphanet:137667 Capillary malformation-arteriovenous malformation True False False +Orphanet:137672 Pellucid marginal degeneration True False False +Orphanet:137675 Histiocytoid cardiomyopathy True False False +Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening True False False +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 True False False +Orphanet:137686 Asherman syndrome True False False +Orphanet:1377 Cataract-microcornea syndrome True False False +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency True False False +Orphanet:137776 Lethal congenital contracture syndrome type 2 True False False +Orphanet:137783 Lethal congenital contracture syndrome type 3 True False False +Orphanet:137807 Primary cutaneous amyloidosis True False False +Orphanet:137810 Nodular cutaneous amyloidosis True False False +Orphanet:137814 Macular amyloidosis True False False +Orphanet:137817 Arachnoiditis True False False +Orphanet:137820 Extrapelvic endometriosis True False False +Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome True False False +Orphanet:137834 Frank-Ter Haar syndrome True False False +Orphanet:137839 Lemierre syndrome True False False +Orphanet:137867 Madras motor neuron disease True False False +Orphanet:137888 Auriculocondylar syndrome True False False +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa True False False +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome True False False +Orphanet:137905 Syndromic optic nerve hypoplasia True False False +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia True False False +Orphanet:137914 Choanal atresia True False False +Orphanet:137917 Choanal atresia, unilateral True False False +Orphanet:137920 Choanal atresia, bilateral True False False +Orphanet:137926 Primary laryngeal lymphangioma True False False +Orphanet:137929 Neonatal brainstem dysfunction True False False +Orphanet:137932 Congenital laryngeal palsy True False False +Orphanet:137935 Laryngotracheal angioma True False False +Orphanet:138 CHARGE syndrome True False False +Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome True False False +Orphanet:138041 Pierre Robin syndrome associated with collagen disease True False False +Orphanet:138044 Rare disease with Pierre Robin syndrome True False False +Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly True False False +Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies True False False +Orphanet:138055 Pierre Robin syndrome associated with bone disease True False False +Orphanet:138059 Teratogenic Pierre Robin syndrome True False False +Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome True False False +Orphanet:1383 Cataract-deafness-hypogonadism syndrome True False False +Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome True False False +Orphanet:1388 Catel-Manzke syndrome True False False +Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome True False False +Orphanet:139 CHILD syndrome True False False +Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome True False False +Orphanet:139009 Developmental anomaly of metabolic origin True False False +Orphanet:139012 Rare bone development disorder True False False +Orphanet:139021 Malformation syndrome with short stature True False False +Orphanet:139024 Overgrowth/obesity syndrome True False False +Orphanet:139027 Rare developmental defect with skin/mucosae involvement True False False +Orphanet:139030 Rare developmental defect with connective tissue involvement True False False +Orphanet:139033 Progeroid syndrome True False False +Orphanet:139036 Branchial arch or oral-acral syndrome True False False +Orphanet:139039 Orofacial clefting syndrome True False False +Orphanet:139042 Malformation syndrome with odontal and/or periodontal component True False False +Orphanet:1393 Cerebrocostomandibular syndrome True False False +Orphanet:139390 Non-syndromic craniosynostosis True False False +Orphanet:139393 Syndromic craniosynostosis True False False +Orphanet:139396 X-linked cerebral adrenoleukodystrophy True False False +Orphanet:139399 Adrenomyeloneuropathy True False False +Orphanet:1394 Cerebrofaciothoracic dysplasia True False False +Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms True False False +Orphanet:139406 Encephalopathy due to prosaposin deficiency True False False +Orphanet:139411 Carney triad True False False +Orphanet:139414 Congenital panfollicular nevus True False False +Orphanet:139417 Acute transverse myelitis True False False +Orphanet:139423 Idiopathic acute transverse myelitis True False False +Orphanet:139426 Perioral myoclonia with absences True False False +Orphanet:139431 Epilepsy with eyelid myoclonia True False False +Orphanet:139436 Multicentric reticulohistiocytosis True False False +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum True False False +Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts True False False +Orphanet:139447 Progressive cavitating leukoencephalopathy True False False +Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome True False False +Orphanet:139455 Autosomal recessive bestrophinopathy True False False +Orphanet:139466 SERKAL syndrome True False False +Orphanet:139471 Microphthalmia with brain and digit anomalies True False False +Orphanet:139474 17q11.2 microduplication syndrome True False False +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 True False False +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency True False False +Orphanet:139507 Dietary iron overload disease True False False +Orphanet:139512 Neuropathy with hearing impairment True False False +Orphanet:139515 Charcot-Marie-Tooth disease type 4J True False False +Orphanet:139518 Distal hereditary motor neuropathy type 1 True False False +Orphanet:139525 Distal hereditary motor neuropathy type 2 True False False +Orphanet:139536 Distal hereditary motor neuropathy type 5 True False False +Orphanet:139547 Distal spinal muscular atrophy type 3 True False False +Orphanet:139552 Distal hereditary motor neuropathy, Jerash type True False False +Orphanet:139557 X-linked distal spinal muscular atrophy type 3 True False False +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B True False False +Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay True False False +Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia True False False +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness True False False +Orphanet:139589 Distal hereditary motor neuropathy type 7 True False False +Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome True False False +Orphanet:1398 Isolated cerebellar agenesis True False False +Orphanet:1399 Richards-Rundle syndrome True False False +Orphanet:14 Abetalipoproteinemia True False False +Orphanet:140 Campomelic dysplasia True False False +Orphanet:1401 CHAND syndrome True False False +Orphanet:140162 Inherited cancer-predisposing syndrome True False False +Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion True False False +Orphanet:140436 Primary intraosseous venous malformation True False False +Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy True False False +Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy True False False +Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy True False False +Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy True False False +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy True False False +Orphanet:140471 Hereditary sensory and autonomic neuropathy True False False +Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy True False False +Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy True False False +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity True False False +Orphanet:1406 Charlie M syndrome True False False +Orphanet:140653 Neuro-ophthalmological disease True False False +Orphanet:140874 Joubert syndrome and related disorders True False False +Orphanet:140896 Severe acute respiratory syndrome True False False +Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency True False False +Orphanet:140908 Brachydactyly type B2 True False False +Orphanet:140917 Stapes ankylosis with broad thumbs and toes True False False +Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 True False False +Orphanet:140927 Benign familial neonatal-infantile seizures True False False +Orphanet:140933 Linear atrophoderma of Moulin True False False +Orphanet:140936 Lelis syndrome True False False +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency True False False +Orphanet:140944 CLOVES syndrome True False False +Orphanet:140949 Low-flow priapism True False False +Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome True False False +Orphanet:140957 Autosomal dominant macrothrombocytopenia True False False +Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome True False False +Orphanet:140966 Palmoplantar keratoderma, Nagashima type True False False +Orphanet:140969 Saldino-Mainzer syndrome True False False +Orphanet:140976 RHYNS syndrome True False False +Orphanet:140989 Primary angiitis of the central nervous system True False False +Orphanet:140997 Orofaciodigital syndrome True False False +Orphanet:141 Canavan disease True False False +Orphanet:1410 Uncombable hair syndrome True False False +Orphanet:141000 Orofaciodigital syndrome type 11 True False False +Orphanet:141007 Orofaciodigital syndrome type 9 True False False +Orphanet:141013 First branchial cleft anomaly True False False +Orphanet:141022 Second branchial cleft anomaly True False False +Orphanet:141030 Third branchial cleft anomaly True False False +Orphanet:141037 Fourth branchial cleft anomaly True False False +Orphanet:141046 Cervical dermoid cyst True False False +Orphanet:141051 Facial dermoid cyst True False False +Orphanet:141061 Commissural lip fistula True False False +Orphanet:141064 Lower lip fistula True False False +Orphanet:141067 Cervicofacial fibrochondroma True False False +Orphanet:141071 Digestive duplication cyst of the tongue True False False +Orphanet:141074 External auditory canal aplasia/hypoplasia True False False +Orphanet:141077 Epignathus True False False +Orphanet:141083 Nasolacrimal duct cyst True False False +Orphanet:141091 Polyrrhinia True False False +Orphanet:141096 Supernumerary nostril True False False +Orphanet:141099 Proboscis lateralis True False False +Orphanet:141103 Nasal dermoid cyst True False False +Orphanet:141107 Nasopharyngeal teratoma True False False +Orphanet:141112 Nasal glial heterotopia True False False +Orphanet:141115 Nasal ganglioglioma True False False +Orphanet:141118 Nasal encephalocele True False False +Orphanet:141121 Congenital subglottic stenosis True False False +Orphanet:141124 Congenital laryngeal cyst True False False +Orphanet:141127 Congenital tracheal stenosis True False False +Orphanet:141132 Oculo-auriculo-vertebral spectrum True False False +Orphanet:141145 Hemifacial hyperplasia True False False +Orphanet:141148 Hemifacial myohyperplasia True False False +Orphanet:141152 Isolated congenital hypoglossia/aglossia True False False +Orphanet:141163 Glossopalatine ankylosis True False False +Orphanet:141168 Frontonasal arteriovenous malformation True False False +Orphanet:141171 Maxillary arteriovenous malformation True False False +Orphanet:141174 Mandibular arteriovenous malformation True False False +Orphanet:141179 Non-involuting congenital hemangioma True False False +Orphanet:141184 Rapidly involuting congenital hemangioma True False False +Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome True False False +Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 True False False +Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 True False False +Orphanet:1412 Tarsal-carpal coalition syndrome True False False +Orphanet:141209 Diffuse lymphatic malformation True False False +Orphanet:141214 Isolated congenital syngnathia True False False +Orphanet:141219 Nasal dorsum fistula True False False +Orphanet:141229 Facial cleft True False False +Orphanet:141234 Median facial cleft True False False +Orphanet:141239 Median cleft of the upper lip and maxilla True False False +Orphanet:141242 Paramedian nasal cleft True False False +Orphanet:141253 Oblique facial cleft True False False +Orphanet:141258 Tessier number 4 facial cleft True False False +Orphanet:141261 Tessier number 5 facial cleft True False False +Orphanet:141265 Tessier number 6 facial cleft True False False +Orphanet:141269 Lateral facial cleft True False False +Orphanet:141276 Tessier number 7 facial cleft True False False +Orphanet:141288 Midline cervical cleft True False False +Orphanet:141291 Cleft lip and alveolus True False False +Orphanet:141327 Orofaciodigital syndrome type 12 True False False +Orphanet:141330 Orofaciodigital syndrome type 13 True False False +Orphanet:141333 Biemond syndrome type 2 True False False +Orphanet:1414 Cholestasis-lymphedema syndrome True False False +Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome True False False +Orphanet:1416 Familial calcium pyrophosphate deposition True False False +Orphanet:142 Anaplastic thyroid carcinoma True False False +Orphanet:1422 Chondrodysplasia-difference of sex development syndrome True False False +Orphanet:1423 Lethal recessive chondrodysplasia True False False +Orphanet:1425 Desbuquois syndrome True False False +Orphanet:1426 Greenberg dysplasia True False False +Orphanet:1427 Otospondylomegaepiphyseal dysplasia True False False +Orphanet:1429 Benign hereditary chorea True False False +Orphanet:143 Parathyroid carcinoma True False False +Orphanet:1431 Paroxysmal dyskinesia True False False +Orphanet:1433 Choroidal atrophy-alopecia syndrome True False False +Orphanet:1435 Xq21 microdeletion syndrome True False False +Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome True False False +Orphanet:1437 Ring chromosome 1 syndrome True False False +Orphanet:1438 Ring chromosome 10 syndrome True False False +Orphanet:1439 Ring chromosome 12 syndrome True False False +Orphanet:144 Lynch syndrome True False False +Orphanet:1440 Ring chromosome 14 syndrome True False False +Orphanet:1441 Ring chromosome 17 syndrome True False False +Orphanet:1442 Ring chromosome 18 syndrome True False False +Orphanet:1443 Ring chromosome 19 syndrome True False False +Orphanet:1444 Ring chromosome 20 syndrome True False False +Orphanet:1445 Ring chromosome 21 syndrome True False False +Orphanet:1446 Ring chromosome 22 syndrome True False False +Orphanet:1447 Ring chromosome 4 syndrome True False False +Orphanet:1448 Ring chromosome 6 syndrome True False False +Orphanet:1449 Ring chromosome 7 syndrome True False False +Orphanet:145 Hereditary breast and/or ovarian cancer syndrome True False False +Orphanet:1450 Ring chromosome 8 syndrome True False False +Orphanet:1451 CINCA syndrome True False False +Orphanet:1452 Cleidocranial dysplasia True False False +Orphanet:1453 Cleidorhizomelic syndrome True False False +Orphanet:1454 Joubert syndrome with hepatic defect True False False +Orphanet:1455 Autosomal dominant coarctation of aorta True False False +Orphanet:1456 Atypical coarctation of aorta True False False +Orphanet:1457 Aorta coarctation True False False +Orphanet:1458 CODAS syndrome True False False +Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome True False False +Orphanet:146 Differentiated thyroid carcinoma True False False +Orphanet:1460 Isolated complex III deficiency True False False +Orphanet:1461 Criss-cross heart True False False +Orphanet:1463 Triatrial heart True False False +Orphanet:1464 Univentricular heart True False False +Orphanet:1465 Coffin-Siris syndrome True False False +Orphanet:1466 COFS syndrome True False False +Orphanet:1467 Cogan syndrome True False False +Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency True False False +Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome True False False +Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability True False False +Orphanet:1475 Renal coloboma syndrome True False False +Orphanet:1478 Interatrial communication True False False +Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome True False False +Orphanet:148 Multiple carboxylase deficiency True False False +Orphanet:1482 Gonococcal conjunctivitis True False False +Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome True False False +Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form True False False +Orphanet:1486 Lethal congenital contracture syndrome type 1 True False False +Orphanet:1487 Cooks syndrome True False False +Orphanet:1488 Cooper-Jabs syndrome True False False +Orphanet:1489 Whooping cough True False False +Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome True False False +Orphanet:1493 Vici syndrome True False False +Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome True False False +Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome True False False +Orphanet:1497 X-linked complicated corpus callosum dysgenesis True False False +Orphanet:15 Achondroplasia True False False +Orphanet:150 Nasopharyngeal carcinoma True False False +Orphanet:1501 Adrenocortical carcinoma True False False +Orphanet:1505 Short rib-polydactyly syndrome True False False +Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome True False False +Orphanet:1507 Autosomal recessive Robinow syndrome True False False +Orphanet:1508 Coxoauricular syndrome True False False +Orphanet:1509 Coxopodopatellar syndrome True False False +Orphanet:1512 Crane-Heise syndrome True False False +Orphanet:1513 Craniodiaphyseal dysplasia True False False +Orphanet:1514 Craniodigital-intellectual disability syndrome True False False +Orphanet:1515 Cranioectodermal dysplasia True False False +Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis True False False +Orphanet:1517 Cantú syndrome True False False +Orphanet:1519 SPECC1L-related hypertelorism syndrome True False False +Orphanet:1520 Craniofrontonasal dysplasia True False False +Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome True False False +Orphanet:1522 Craniometaphyseal dysplasia True False False +Orphanet:1524 Craniomicromelic syndrome True False False +Orphanet:1525 Cranio-osteoarthropathy True False False +Orphanet:1527 Craniosynostosis, Philadelphia type True False False +Orphanet:1528 Craniotelencephalic dysplasia True False False +Orphanet:1529 Craniofacial-deafness-hand syndrome True False False +Orphanet:1531 Craniosynostosis True False False +Orphanet:1532 Gómez-López-Hernández syndrome True False False +Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome True False False +Orphanet:154 Familial isolated dilated cardiomyopathy True False False +Orphanet:1540 Jackson-Weiss syndrome True False False +Orphanet:1541 Craniosynostosis, Boston type True False False +Orphanet:1544 Benign focal seizures of adolescence True False False +Orphanet:1545 Crisponi syndrome True False False +Orphanet:1546 Cryptococcosis True False False +Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome True False False +Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome True False False +Orphanet:1551 Familial benign copper deficiency True False False +Orphanet:1552 Currarino syndrome True False False +Orphanet:1553 Curry-Jones syndrome True False False +Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome True False False +Orphanet:1556 Cutis marmorata telangiectatica congenita True False False +Orphanet:155832 Rare head and neck malformation True False False +Orphanet:155835 Cysts and fistulae of the face and oral cavity True False False +Orphanet:155838 Pinnae fistula or cyst True False False +Orphanet:155867 Paramedian facial cleft True False False +Orphanet:155878 Submucosal cleft palate True False False +Orphanet:155884 Coloboma of superior eyelid True False False +Orphanet:155889 Coloboma of inferior eyelid True False False +Orphanet:155896 Otomandibular dysplasia True False False +Orphanet:155899 Mandibulofacial dysostosis True False False +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency True False False +Orphanet:1560 Cysticercosis True False False +Orphanet:156005 Primary early-onset glaucoma True False False +Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency True False False +Orphanet:156140 Predominantly large-vessel vasculitis True False False +Orphanet:156143 Predominantly medium-vessel vasculitis True False False +Orphanet:156146 Predominantly small-vessel vasculitis True False False +Orphanet:156149 Immune complex mediated vasculitis True False False +Orphanet:156159 Isolated dystonia True False False +Orphanet:156162 Renal ciliopathy True False False +Orphanet:156165 Retinal ciliopathy True False False +Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene True False False +Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene True False False +Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene True False False +Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene True False False +Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene True False False +Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene True False False +Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome True False False +Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes True False False +Orphanet:156207 Macroglossia True False False +Orphanet:156212 Hypoglossia/aglossia True False False +Orphanet:156215 Oromandibular-limb anomalies syndrome True False False +Orphanet:156224 Paralytic facial malformation True False False +Orphanet:156230 Facial arteriovenous malformation True False False +Orphanet:156237 Syndrome or malformation associated with head and neck malformations True False False +Orphanet:156243 Pinnae and external auditory canal anomaly True False False +Orphanet:156246 Nose and cavum anomaly True False False +Orphanet:156249 Larynx anomaly True False False +Orphanet:156252 Tracheal anomaly True False False +Orphanet:1563 Dahlberg-Borer-Newcomer syndrome True False False +Orphanet:156532 Rare syndrome with cardiac malformations True False False +Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome True False False +Orphanet:156601 Rare genetic hepatic disease True False False +Orphanet:156604 Genetic parenchymatous liver disease True False False +Orphanet:156607 Genetic biliary tract disease True False False +Orphanet:156610 Rare genetic respiratory disease True False False +Orphanet:156619 Rare genetic urogenital disease True False False +Orphanet:156622 Genetic urogenital tract malformation True False False +Orphanet:156629 Rare genetic cause of hypertension True False False +Orphanet:156638 Rare genetic endocrine disease True False False +Orphanet:156643 Genetic endocrine growth disease True False False +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type True False False +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type True False False +Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome True False False +Orphanet:157 Carnitine palmitoyltransferase II deficiency True False False +Orphanet:1570 Symbrachydactyly of hands and feet True False False +Orphanet:1571 Knobloch syndrome True False False +Orphanet:1572 Common variable immunodeficiency True False False +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria True False False +Orphanet:1573 Hypotrichosis with juvenile macular degeneration True False False +Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome True False False +Orphanet:1576 Infantile bilateral striatal necrosis True False False +Orphanet:157713 Congenital or early infantile CACH syndrome True False False +Orphanet:157716 Late infantile CACH syndrome True False False +Orphanet:157719 Juvenile or adult CACH syndrome True False False +Orphanet:157769 Situs ambiguus True False False +Orphanet:157791 Epithelioid hemangioendothelioma True False False +Orphanet:157794 Hereditary mixed polyposis syndrome True False False +Orphanet:157798 Serrated polyposis syndrome True False False +Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency True False False +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction True False False +Orphanet:157808 Congenital pseudoarthrosis of the limbs True False False +Orphanet:157820 Cold-induced sweating syndrome True False False +Orphanet:157823 Klüver-Bucy syndrome True False False +Orphanet:157826 Congenital epulis True False False +Orphanet:157832 Craniorhiny True False False +Orphanet:157835 Paroxysmal hemicrania True False False +Orphanet:157843 Trigeminal autonomic cephalalgia True False False +Orphanet:157846 Neuroferritinopathy True False False +Orphanet:157850 Pantothenate kinase-associated neurodegeneration True False False +Orphanet:157941 Huntington disease-like 1 True False False +Orphanet:157946 Huntington disease-like 3 True False False +Orphanet:157949 Combined immunodeficiency with granulomatosis True False False +Orphanet:157954 ANE syndrome True False False +Orphanet:157962 Oculoauricular syndrome, Schorderet type True False False +Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome True False False +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation True False False +Orphanet:157987 Non-Langerhans cell histiocytosis True False False +Orphanet:157991 Generalized eruptive histiocytosis True False False +Orphanet:157997 Benign cephalic histiocytosis True False False +Orphanet:158 Systemic primary carnitine deficiency True False False +Orphanet:1580 Distal deletion 10p True False False +Orphanet:158000 Juvenile xanthogranuloma True False False +Orphanet:158003 Xanthoma disseminatum True False False +Orphanet:158008 Papular xanthoma True False False +Orphanet:158011 Necrobiotic xanthogranuloma True False False +Orphanet:158014 Rosaï-Dorfman disease True False False +Orphanet:158019 Indeterminate cell histiocytosis True False False +Orphanet:158022 Progressive nodular histiocytosis True False False +Orphanet:158025 Hereditary progressive mucinous histiocytosis True False False +Orphanet:158029 Sea-blue histiocytosis True False False +Orphanet:158032 Hemophagocytic syndrome True False False +Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis True False False +Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease True False False +Orphanet:158061 Macrophage activation syndrome True False False +Orphanet:1581 Non-distal deletion 10q True False False +Orphanet:158124 Genetic dementia True False False +Orphanet:158266 Huntington disease-like syndrome True False False +Orphanet:158300 Rare genetic hematologic disease True False False +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome True False False +Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form True False False +Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only True False False +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema True False False +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia True False False +Orphanet:158687 Lethal acantholytic erosive disorder True False False +Orphanet:1587 Monosomy 13q14 True False False +Orphanet:158766 Typical urticaria pigmentosa True False False +Orphanet:158769 Plaque-form urticaria pigmentosa True False False +Orphanet:158772 Nodular urticaria pigmentosa True False False +Orphanet:158775 Smoldering systemic mastocytosis True False False +Orphanet:158778 Isolated bone marrow mastocytosis True False False +Orphanet:159 Carnitine-acylcarnitine translocase deficiency True False False +Orphanet:1590 Distal deletion 13q True False False +Orphanet:1596 Distal deletion 15q True False False +Orphanet:1597 Distal deletion 17q True False False +Orphanet:1598 Monosomy 18p True False False +Orphanet:16 Blue cone monochromatism True False False +Orphanet:160 Castleman disease True False False +Orphanet:1600 Monosomy 18q True False False +Orphanet:160148 Cap polyposis True False False +Orphanet:1606 1p36 deletion syndrome True False False +Orphanet:1617 2q24 microdeletion syndrome True False False +Orphanet:162 Cataract-glaucoma syndrome True False False +Orphanet:1620 Distal deletion 3p True False False +Orphanet:1621 3q13 microdeletion syndrome True False False +Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis True False False +Orphanet:162526 Isolated congenital auditory ossicle malformation True False False +Orphanet:1627 Deletion 5q35 True False False +Orphanet:163 Hereditary hyperferritinemia-cataract syndrome True False False +Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration True False False +Orphanet:163525 Subacute cutaneous lupus erythematosus True False False +Orphanet:163531 Chronic cutaneous lupus erythematosus True False False +Orphanet:163582 Rare bacterial infectious disease True False False +Orphanet:163585 Rare viral disease True False False +Orphanet:163588 Rare parasitic disease True False False +Orphanet:163591 Rare mycosis True False False +Orphanet:163596 Hb Bart's hydrops fetalis True False False +Orphanet:1636 Distal monosomy 7q36 True False False +Orphanet:163634 Maffucci syndrome True False False +Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium True False False +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome True False False +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome True False False +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type True False False +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type True False False +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type True False False +Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy True False False +Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome True False False +Orphanet:163690 Hypotonia-cystinuria syndrome True False False +Orphanet:163693 2p21 microdeletion syndrome True False False +Orphanet:163696 Action myoclonus-renal failure syndrome True False False +Orphanet:163699 Alveolar soft tissue sarcoma True False False +Orphanet:163703 Febrile infection-related epilepsy syndrome True False False +Orphanet:163708 Cryptogenic late-onset epileptic spasms True False False +Orphanet:163717 Benign familial mesial temporal lobe epilepsy True False False +Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome True False False +Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome True False False +Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease True False False +Orphanet:163921 Posttransplant acute limbic encephalitis True False False +Orphanet:163927 Pustulosis palmaris et plantaris True False False +Orphanet:163931 Acrodermatitis continua of Hallopeau True False False +Orphanet:163934 Atopic keratoconjunctivitis True False False +Orphanet:163937 X-linked intellectual disability, Najm type True False False +Orphanet:163956 X-linked intellectual disability, Nascimento type True False False +Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome True False False +Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type True False False +Orphanet:163971 X-linked intellectual disability, Cilliers type True False False +Orphanet:163976 X-linked intellectual disability, Van Esch type True False False +Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome True False False +Orphanet:163985 Hyperekplexia-epilepsy syndrome True False False +Orphanet:164001 Rare odontal or periodontal disorder True False False +Orphanet:164004 Middle and/or inner ear anomaly True False False +Orphanet:1642 Distal deletion 9p True False False +Orphanet:1643 Xp22.3 microdeletion syndrome True False False +Orphanet:1646 Partial chromosome Y deletion True False False +Orphanet:1647 Oculocerebrocutaneous syndrome True False False +Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation True False False +Orphanet:164736 Familial advanced sleep-phase syndrome True False False +Orphanet:165 Neutral lipid storage disease True False False +Orphanet:1652 Dent disease True False False +Orphanet:1653 Dentin dysplasia True False False +Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome True False False +Orphanet:1656 Dermatitis herpetiformis True False False +Orphanet:165652 Rare genetic gastroenterological disease True False False +Orphanet:165655 Genetic intestinal disease True False False +Orphanet:165658 Genetic gastro-esophageal disease True False False +Orphanet:165661 Genetic pancreatic disease True False False +Orphanet:1657 Dermatoosteolysis, Kirghizian type True False False +Orphanet:165707 Syndromic urogenital tract malformation True False False +Orphanet:165711 Rare abdominal surgical disease True False False +Orphanet:1658 Absence of fingerprints-congenital milia syndrome True False False +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures True False False +Orphanet:1659 Dermatoleukodystrophy True False False +Orphanet:165955 Wound myiasis True False False +Orphanet:165958 Cavitary myiasis True False False +Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism True False False +Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism True False False +Orphanet:165991 Exercise-induced hyperinsulinism True False False +Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy True False False +Orphanet:1660 Dermoodontodysplasia True False False +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly True False False +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type True False False +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type True False False +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type True False False +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia True False False +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses True False False +Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome True False False +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type True False False +Orphanet:166063 Pontocerebellar hypoplasia type 4 True False False +Orphanet:166073 Pontocerebellar hypoplasia type 6 True False False +Orphanet:166078 Von Willebrand disease type 1 True False False +Orphanet:166081 Von Willebrand disease type 2 True False False +Orphanet:166084 Von Willebrand disease type 2A True False False +Orphanet:166087 Von Willebrand disease type 2B True False False +Orphanet:166090 Von Willebrand disease type 2M True False False +Orphanet:166093 Von Willebrand disease type 2N True False False +Orphanet:166096 Von Willebrand disease type 3 True False False +Orphanet:1661 X-linked corneal dermoid True False False +Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia True False False +Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy True False False +Orphanet:166108 Intellectual disability, Birk-Barel type True False False +Orphanet:166113 Bazex syndrome True False False +Orphanet:166119 Isolated osteopoikilosis True False False +Orphanet:1662 Restrictive dermopathy True False False +Orphanet:166260 Dentinogenesis imperfecta type 2 True False False +Orphanet:166265 Dentinogenesis imperfecta type 3 True False False +Orphanet:166272 Odontochondrodysplasia True False False +Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia True False False +Orphanet:166282 Familial sick sinus syndrome True False False +Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus True False False +Orphanet:166291 Dirofilariasis True False False +Orphanet:166295 Benign non-familial infantile seizures True False False +Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures True False False +Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy True False False +Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis True False False +Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep True False False +Orphanet:166311 Benign partial infantile seizures True False False +Orphanet:166409 Photosensitive epilepsy True False False +Orphanet:166412 Hot water reflex epilepsy True False False +Orphanet:166415 Audiogenic seizures True False False +Orphanet:166418 Eating reflex epilepsy True False False +Orphanet:166421 Orgasm-induced seizures True False False +Orphanet:166424 Thinking seizures True False False +Orphanet:166427 Startle epilepsy True False False +Orphanet:166430 Micturation-induced seizures True False False +Orphanet:166433 Reading seizures True False False +Orphanet:166463 Epilepsy syndrome True False False +Orphanet:166466 Neurocutaneous syndrome with epilepsy True False False +Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature True False False +Orphanet:166472 Monogenic disease with epilepsy True False False +Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes True False False +Orphanet:166478 Cerebral malformation with epilepsy True False False +Orphanet:166481 Metabolic diseases with epilepsy True False False +Orphanet:166484 Inflammatory and autoimmune disease with epilepsy True False False +Orphanet:166487 Cerebral diseases of vascular origin with epilepsy True False False +Orphanet:166490 Infectious disease with epilepsy True False False +Orphanet:1665 Sporadic fetal brain disruption sequence True False False +Orphanet:1666 Dextrocardia True False False +Orphanet:1667 Wolcott-Rallison syndrome True False False +Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect True False False +Orphanet:167 Chédiak-Higashi syndrome True False False +Orphanet:1670 Chronic diarrhea with villous atrophy True False False +Orphanet:1671 Split cord malformation type I True False False +Orphanet:1672 Diencephalic syndrome True False False +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency True False False +Orphanet:1676 Idiopathic pulmonary artery dilatation True False False +Orphanet:167635 Scleromyxedema True False False +Orphanet:1677 Familial idiopathic dilatation of the right atrium True False False +Orphanet:167759 Hereditary dentin defect True False False +Orphanet:167762 Rare disease with dentinogenesis imperfecta True False False +Orphanet:167848 Rare cardiomyopathy True False False +Orphanet:1679 Diphtheria True False False +Orphanet:168 Loose anagen syndrome True False False +Orphanet:1681 Diprosopus True False False +Orphanet:168194 Rare cardiac tumor True False False +Orphanet:1682 Arterial dissection-lentiginosis syndrome True False False +Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome True False False +Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome True False False +Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type True False False +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis True False False +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis True False False +Orphanet:1685 Distomatosis True False False +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type True False False +Orphanet:168549 Axial spondylometaphyseal dysplasia True False False +Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome True False False +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type True False False +Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency True False False +Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome True False False +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 True False False +Orphanet:168569 H syndrome True False False +Orphanet:168572 Native American myopathy True False False +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin True False False +Orphanet:168583 Hereditary North American Indian childhood cirrhosis True False False +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency True False False +Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome True False False +Orphanet:168598 Methionine adenosyltransferase I/III deficiency True False False +Orphanet:1686 Cardiac diverticulum True False False +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency True False False +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements True False False +Orphanet:168612 Congenital deficiency in alpha-fetoprotein True False False +Orphanet:168615 Hereditary persistence of alpha-fetoprotein True False False +Orphanet:168621 Dysplasia of head of femur, Meyer type True False False +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type True False False +Orphanet:168629 Autosomal thrombocytopenia with normal platelets True False False +Orphanet:168632 Generalized basaloid follicular hamartoma syndrome True False False +Orphanet:168778 Rare pervasive developmental disorder True False False +Orphanet:168782 Childhood disintegrative disorder True False False +Orphanet:168796 Heart-hand syndrome, Slovenian type True False False +Orphanet:168803 Primary peritoneal tumor True False False +Orphanet:168811 Malignant peritoneal mesothelioma True False False +Orphanet:168816 Peritoneal cystic mesothelioma True False False +Orphanet:168829 Primary peritoneal carcinoma True False False +Orphanet:168940 Chronic eosinophilic leukemia True False False +Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement True False False +Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement True False False +Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement True False False +Orphanet:168960 Refractory anemia with excess blasts in transformation True False False +Orphanet:168966 Composite lymphoma True False False +Orphanet:168984 CLAPO syndrome True False False +Orphanet:168999 Malignant melanoma of the mucosa True False False +Orphanet:169 Ringed hair disease True False False +Orphanet:169079 Cernunnos-XLF deficiency True False False +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency True False False +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation True False False +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction True False False +Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency True False False +Orphanet:169100 Immunodeficiency due to CD25 deficiency True False False +Orphanet:169105 Good syndrome True False False +Orphanet:169110 Immunoglobulin heavy chain deficiency True False False +Orphanet:169139 Transient hypogammaglobulinemia of infancy True False False +Orphanet:169142 Recurrent infection due to specific granule deficiency True False False +Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency True False False +Orphanet:169150 Immunodeficiency due to a late component of complement deficiency True False False +Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency True False False +Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency True False False +Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta True False False +Orphanet:169163 Familial scaphocephaly syndrome True False False +Orphanet:169186 Autosomal recessive centronuclear myopathy True False False +Orphanet:169189 Autosomal dominant centronuclear myopathy True False False +Orphanet:1692 Mosaic trisomy 1 True False False +Orphanet:169349 Immuno-osseous dysplasia True False False +Orphanet:169361 Immune dysregulation disease with immunodeficiency True False False +Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells True False False +Orphanet:169464 Primary CD59 deficiency True False False +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency True False False +Orphanet:1695 Non-distal duplication 10q True False False +Orphanet:169793 Severe hemophilia B True False False +Orphanet:169796 Moderate hemophilia B True False False +Orphanet:169799 Mild hemophilia B True False False +Orphanet:1698 Mosaic trisomy 12 True False False +Orphanet:169802 Severe hemophilia A True False False +Orphanet:169805 Moderate hemophilia A True False False +Orphanet:169808 Mild hemophilia A True False False +Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency True False False +Orphanet:1699 Trisomy 12p True False False +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria True False False +Orphanet:170 Woolly hair True False False +Orphanet:1702 Non-distal duplication 13q True False False +Orphanet:1703 Mosaic trisomy 14 True False False +Orphanet:1705 Distal duplication 14q True False False +Orphanet:1706 Mosaic trisomy 15 True False False +Orphanet:1707 Distal duplication 15q True False False +Orphanet:1708 Mosaic trisomy 16 True False False +Orphanet:171 Primary sclerosing cholangitis True False False +Orphanet:1711 Mosaic trisomy 17 True False False +Orphanet:171220 Rectal duplication True False False +Orphanet:1713 17p11.2 microduplication syndrome True False False +Orphanet:171430 Severe congenital nemaline myopathy True False False +Orphanet:171433 Intermediate nemaline myopathy True False False +Orphanet:171436 Typical nemaline myopathy True False False +Orphanet:171439 Childhood-onset nemaline myopathy True False False +Orphanet:171442 Adult-onset nemaline myopathy True False False +Orphanet:171445 Muscle filaminopathy True False False +Orphanet:1715 Trisomy 18p True False False +Orphanet:1716 Distal duplication 18q True False False +Orphanet:171607 X-linked spastic paraplegia type 34 True False False +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 True False False +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 True False False +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 True False False +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 True False False +Orphanet:171673 Limbal stem cell deficiency True False False +Orphanet:171680 Lissencephaly due to TUBA1A mutation True False False +Orphanet:171684 Idiopathic bilateral vestibulopathy True False False +Orphanet:171690 Metabolic myopathy due to lactate transporter defect True False False +Orphanet:171695 Parkinsonian-pyramidal syndrome True False False +Orphanet:1717 Distal duplication 19q True False False +Orphanet:171700 Diffuse panbronchiolitis True False False +Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome True False False +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency True False False +Orphanet:171709 Male infertility due to globozoospermia True False False +Orphanet:171719 Cutis laxa-Marfanoid syndrome True False False +Orphanet:171723 White sponge nevus True False False +Orphanet:171829 6q16 microdeletion syndrome True False False +Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome True False False +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome True False False +Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome True False False +Orphanet:171851 MEDNIK syndrome True False False +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 True False False +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type True False False +Orphanet:171871 Renal pseudohypoaldosteronism type 1 True False False +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 True False False +Orphanet:171881 Cap myopathy True False False +Orphanet:171886 Cylindrical spirals myopathy True False False +Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays True False False +Orphanet:171929 Trisomy 10p True False False +Orphanet:172 Progressive familial intrahepatic cholestasis True False False +Orphanet:1723 Mosaic trisomy 2 True False False +Orphanet:1724 Mosaic trisomy 20 True False False +Orphanet:1727 22q11.2 duplication syndrome True False False +Orphanet:172976 Congenital myopathy with cores True False False +Orphanet:173 Cholera True False False +Orphanet:1738 Trisomy 4p True False False +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type True False False +Orphanet:1742 Trisomy 5p True False False +Orphanet:1745 Distal duplication 6p True False False +Orphanet:174590 Congenital hypogonadotropic hypogonadism True False False +Orphanet:1747 Mosaic trisomy 7 True False False +Orphanet:175 Cartilage-hair hypoplasia True False False +Orphanet:1752 Trisomy 8q True False False +Orphanet:1756 Caudal duplication True False False +Orphanet:1757 Fibular dimelia-diplopodia syndrome True False False +Orphanet:1759 Thoraco-abdominal enteric duplication True False False +Orphanet:176 Non-rhizomelic chondrodysplasia punctata True False False +Orphanet:1762 Proximal Xq28 duplication syndrome True False False +Orphanet:1764 Familial dysautonomia True False False +Orphanet:1765 Dyschondrosteosis-nephritis syndrome True False False +Orphanet:1766 Dysequilibrium syndrome True False False +Orphanet:1768 Familial caudal dysgenesis True False False +Orphanet:177 Rhizomelic chondrodysplasia punctata True False False +Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome True False False +Orphanet:177101 Rare adult hypothyroidism True False False +Orphanet:177107 Syndromic hypothyroidism True False False +Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis True False False +Orphanet:1775 Dyskeratosis congenita True False False +Orphanet:1777 Temtamy syndrome True False False +Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome True False False +Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome True False False +Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 True False False +Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 True False False +Orphanet:177907 Prader-Willi syndrome due to translocation True False False +Orphanet:177910 Prader-Willi syndrome due to imprinting mutation True False False +Orphanet:177926 Bleeding disorder in hemophilia A carriers True False False +Orphanet:177929 Bleeding disorder in hemophilia B carriers True False False +Orphanet:178 Chordoma True False False +Orphanet:1780 Thakker-Donnai syndrome True False False +Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations True False False +Orphanet:178029 Central diabetes insipidus True False False +Orphanet:178040 Rare peripheral precocious puberty True False False +Orphanet:178045 Transient congenital hypothyroidism True False False +Orphanet:178145 Moderate multiminicore disease with hand involvement True False False +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita True False False +Orphanet:1782 Dysosteosclerosis True False False +Orphanet:178303 8q22.1 microdeletion syndrome True False False +Orphanet:178307 Reticulate acropigmentation of Kitamura True False False +Orphanet:178311 Isolated sternocostoclavicular hyperostosis True False False +Orphanet:178315 Undifferentiated embryonal sarcoma of the liver True False False +Orphanet:178320 Acute lung injury True False False +Orphanet:178333 Åland Islands eye disease True False False +Orphanet:178338 UV-sensitive syndrome True False False +Orphanet:178342 Inflammatory myofibroblastic tumor True False False +Orphanet:178345 Aromatase excess syndrome True False False +Orphanet:178355 Smith-McCort dysplasia True False False +Orphanet:178364 Syndromic microphthalmia type 5 True False False +Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome True False False +Orphanet:178382 Congenital vertical talus True False False +Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome True False False +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation True False False +Orphanet:1784 Acrofrontofacionasal dysostosis True False False +Orphanet:178400 Distal myopathy with anterior tibial onset True False False +Orphanet:178461 X-linked myopathy with postural muscle atrophy True False False +Orphanet:178464 Hereditary myopathy with early respiratory failure True False False +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability True False False +Orphanet:178475 Wound botulism True False False +Orphanet:178478 Infant botulism True False False +Orphanet:178481 Intestinal botulism True False False +Orphanet:178487 Adult intestinal botulism True False False +Orphanet:178493 Myopic macular degeneration True False False +Orphanet:178506 Brain calcification, Rajab type True False False +Orphanet:178509 Perry syndrome True False False +Orphanet:178512 Folliculotropic mycosis fungoides True False False +Orphanet:178517 Localized pagetoid reticulosis True False False +Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma True False False +Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma True False False +Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma True False False +Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma True False False +Orphanet:178540 Primary cutaneous follicle center lymphoma True False False +Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type True False False +Orphanet:1786 Acrofacial dysostosis, Catania type True False False +Orphanet:1787 Acrofacial dysostosis, Palagonia type True False False +Orphanet:1788 Acrofacial dysostosis, Rodríguez type True False False +Orphanet:178996 Acquired neutropenia True False False +Orphanet:179 Birdshot chorioretinopathy True False False +Orphanet:1790 Hypomandibular faciocranial dysostosis True False False +Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity True False False +Orphanet:1791 Frontofacionasal dysplasia True False False +Orphanet:1794 Oculomaxillofacial dysostosis True False False +Orphanet:179490 Obesity due to congenital leptin resistance True False False +Orphanet:179494 Obesity due to leptin receptor gene deficiency True False False +Orphanet:1797 Autosomal dominant spondylocostal dysostosis True False False +Orphanet:1798 Dysostosis, Stanescu type True False False +Orphanet:1799 Familial developmental dysphasia True False False +Orphanet:18 Distal renal tubular acidosis True False False +Orphanet:180 Choroideremia True False False +Orphanet:180062 Uterovaginal malformation True False False +Orphanet:180074 True unicornuate uterus True False False +Orphanet:180079 Pseudounicornuate uterus True False False +Orphanet:180086 Didelphys uterus True False False +Orphanet:1801 Kyphomelic dysplasia True False False +Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina True False False +Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina True False False +Orphanet:180114 Unicervical bicornuate uterus True False False +Orphanet:180126 Complete septate uterus True False False +Orphanet:180129 Partial septate uterus True False False +Orphanet:180139 Uterine hypoplasia True False False +Orphanet:180142 Absence of uterine body True False False +Orphanet:180145 Uterine cervical aplasia and agenesis True False False +Orphanet:180148 Syndromic uterovaginal malformation True False False +Orphanet:180154 Septate vagina True False False +Orphanet:180157 Longitudinal vaginal septum True False False +Orphanet:180160 Transverse vaginal septum True False False +Orphanet:180163 Rare breast malformation True False False +Orphanet:180170 Excess breast volume or number True False False +Orphanet:180173 Deficient breast volume or number True False False +Orphanet:180176 Familial juvenile hypertrophy of the breast True False False +Orphanet:180182 Supernumerary breasts True False False +Orphanet:180188 Isolated congenital breast hypoplasia/aplasia True False False +Orphanet:180193 Syndromic breast hypoplasia/aplasia True False False +Orphanet:180199 Rare non-malformative gynecologic or obstetric disease True False False +Orphanet:1802 Ghosal hematodiaphyseal dysplasia True False False +Orphanet:180202 Rare non-malformative breast disease True False False +Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease True False False +Orphanet:180208 Anomaly of puberty or/and menstrual cycle True False False +Orphanet:180220 Rare uterine adnexal tumor True False False +Orphanet:180226 Embryonal carcinoma True False False +Orphanet:180229 Polyembryoma True False False +Orphanet:180234 Mixed germ cell tumor True False False +Orphanet:180237 Benign tumor of fallopian tubes True False False +Orphanet:180242 Malignant tumor of fallopian tubes True False False +Orphanet:180247 Vaginal carcinoma True False False +Orphanet:180250 Rare breast tumor True False False +Orphanet:180253 Rare benign breast tumor True False False +Orphanet:180257 Rare malignant breast tumor True False False +Orphanet:180261 Phyllodes tumor of the breast True False False +Orphanet:180267 Giant adenofibroma of the breast True False False +Orphanet:180275 Paget disease of the nipple True False False +Orphanet:1803 Thoracomelic dysplasia True False False +Orphanet:180303 Rare non-malformative uterine adnexal disease True False False +Orphanet:180312 Rare vulvovaginal tumor True False False +Orphanet:1806 Ectodermal dysplasia-blindness syndrome True False False +Orphanet:1807 Focal facial dermal dysplasia type III True False False +Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta True False False +Orphanet:180772 Rare disease with autism True False False +Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation True False False +Orphanet:180779 Syndromic diaphragmatic or thoracic malformation True False False +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type True False False +Orphanet:180821 Rare gastroesophageal tumor True False False +Orphanet:180824 Rare tumor of pancreas True False False +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type True False False +Orphanet:181 X-linked hypohidrotic ectodermal dysplasia True False False +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia True False False +Orphanet:1811 Odontomicronychial dysplasia True False False +Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome True False False +Orphanet:181368 Rare insulin-resistance syndrome True False False +Orphanet:181371 Rare diabetes mellitus type 1 True False False +Orphanet:181376 Rare diabetes mellitus type 2 True False False +Orphanet:181381 Other rare diabetes mellitus True False False +Orphanet:181384 Rare hypothalamic or pituitary disease True False False +Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism True False False +Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature True False False +Orphanet:181393 Growth hormone insensitivity syndrome True False False +Orphanet:181396 Rare hypothyroidism True False False +Orphanet:181399 Rare hyperthyroidism True False False +Orphanet:181402 Syndrome with hypoparathyroidism True False False +Orphanet:181405 Rare hypoparathyroidism True False False +Orphanet:181408 Rare hyperparathyroidism True False False +Orphanet:181412 Adrenogenital syndrome True False False +Orphanet:181415 Rare primary hyperaldosteronism True False False +Orphanet:181419 Rare hypoaldosteronism True False False +Orphanet:181422 Rare hyperlipidemia True False False +Orphanet:181428 Hyperalphalipoproteinemia True False False +Orphanet:181431 Rare hypolipidemia True False False +Orphanet:181437 Rare syndromic dyslipidemia True False False +Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism True False False +Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome True False False +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type True False False +Orphanet:182 Chromomycosis True False False +Orphanet:182043 Rare constitutional hemolytic anemia True False False +Orphanet:182047 Rare acquired hemolytic anemia True False False +Orphanet:182050 MYH9-related disease True False False +Orphanet:182054 Rare thrombotic disease of hematologic origin True False False +Orphanet:182058 Primary orthostatic hypotension True False False +Orphanet:182061 Cerebellar malformation True False False +Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease True False False +Orphanet:182067 Glial tumor True False False +Orphanet:182070 Rare neurodegenerative disease True False False +Orphanet:182079 ARX-related epileptic encephalopathy True False False +Orphanet:182083 Channelopathy with epilepsy True False False +Orphanet:182086 Acquired peripheral neuropathy True False False +Orphanet:182108 Thoracic malformation True False False +Orphanet:182111 Respiratory malformation True False False +Orphanet:182114 Rare urogenital tumor True False False +Orphanet:182127 Extragonadal germinoma True False False +Orphanet:182130 Tumor of endocrine glands True False False +Orphanet:1822 Dysplasia epiphysealis hemimelica True False False +Orphanet:182228 Systemic autoimmune disease True False False +Orphanet:182231 Rare rheumatologic disease True False False +Orphanet:1824 Lowry-Wood syndrome True False False +Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome True False False +Orphanet:1826 Frontometaphyseal dysplasia True False False +Orphanet:1827 Acromelic frontonasal dysplasia True False False +Orphanet:182734 Genetic urticaria True False False +Orphanet:183 Eosinophilic granulomatosis with polyangiitis True False False +Orphanet:1830 Schimke immuno-osseous dysplasia True False False +Orphanet:1832 Lethal osteosclerotic bone dysplasia True False False +Orphanet:1834 Axial mesodermal dysplasia spectrum True False False +Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer True False False +Orphanet:183426 Genetic epidermal disorder True False False +Orphanet:183435 Inherited ichthyosis True False False +Orphanet:183438 Genetic erythrokeratoderma True False False +Orphanet:183441 Genetic acrokeratoderma True False False +Orphanet:183444 Genetic porokeratosis True False False +Orphanet:183447 Genetic epidermal appendage anomaly True False False +Orphanet:183450 Genetic hair anomaly True False False +Orphanet:183454 Genetic nail anomaly True False False +Orphanet:183460 Genetic sebaceous gland anomaly True False False +Orphanet:183463 Genetic pigmentation anomaly of the skin True False False +Orphanet:183472 Genetic dermis disorder True False False +Orphanet:183478 Genetic skin vascular disorder True False False +Orphanet:183481 Genetic mixed dermis disorder True False False +Orphanet:183484 Genetic subcutaneous tissue disorder True False False +Orphanet:183487 Genetic skin tumor or hamartoma True False False +Orphanet:183490 Genetic photodermatosis True False False +Orphanet:183494 Genetic immune deficiency with skin involvement True False False +Orphanet:183497 Genetic neuromuscular disease True False False +Orphanet:183500 Genetic neurodegenerative disease True False False +Orphanet:183503 Genetic central nervous system and retinal vascular disease True False False +Orphanet:183506 Genetic central nervous system malformation True False False +Orphanet:183509 Rare genetic headache True False False +Orphanet:183512 Rare genetic epilepsy True False False +Orphanet:183515 Rare genetic medullar disease True False False +Orphanet:183518 Hereditary ataxia True False False +Orphanet:183521 Rare genetic movement disorder True False False +Orphanet:183524 Rare genetic bone disease True False False +Orphanet:183527 Genetic bone tumor True False False +Orphanet:183530 Rare genetic developmental defect during embryogenesis True False False +Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome True False False +Orphanet:183536 Genetic congenital limb malformation True False False +Orphanet:183539 Genetic renal or urinary tract malformation True False False +Orphanet:183542 Genetic cranial malformation True False False +Orphanet:183545 Genetic digestive tract malformation True False False +Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen True False False +Orphanet:183554 Genetic respiratory or mediastinal malformation True False False +Orphanet:183557 Genetic developmental defect of the eye True False False +Orphanet:183570 Genetic malformation syndrome with short stature True False False +Orphanet:183573 Genetic overgrowth/obesity syndrome True False False +Orphanet:183576 Genetic branchial arch or oral-acral syndrome True False False +Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component True False False +Orphanet:183583 Genetic head and neck malformation True False False +Orphanet:183586 Genetic glomerular disease True False False +Orphanet:183589 Genetic thrombotic microangiopathy True False False +Orphanet:183592 Genetic renal tubular disease True False False +Orphanet:183595 Genetic renal tumor True False False +Orphanet:1836 Mesomelic dysplasia, Kantaputra type True False False +Orphanet:183616 Genetic neuro-ophthalmological disease True False False +Orphanet:183619 Genetic eye tumor True False False +Orphanet:183622 Genetic respiratory malformation True False False +Orphanet:183625 Rare genetic diabetes mellitus True False False +Orphanet:183628 Rare genetic hypothalamic or pituitary disease True False False +Orphanet:183631 Rare genetic thyroid disease True False False +Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder True False False +Orphanet:183637 Rare genetic adrenal disease True False False +Orphanet:183643 Genetic polyendocrinopathy True False False +Orphanet:183651 Rare constitutional anemia True False False +Orphanet:183654 Rare genetic coagulation disorder True False False +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections True False False +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections True False False +Orphanet:183669 Agammaglobulinemia True False False +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency True False False +Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency True False False +Orphanet:183681 Functional neutrophil defect True False False +Orphanet:1837 Ulna metaphyseal dysplasia syndrome True False False +Orphanet:183707 Neutrophil immunodeficiency syndrome True False False +Orphanet:183710 Genetic susceptibility to infections due to particular pathogens True False False +Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency True False False +Orphanet:183731 Rare genetic gynecological and obstetrical diseases True False False +Orphanet:183734 Genetic gynecological tumor True False False +Orphanet:183757 Rare genetic intellectual disability True False False +Orphanet:183763 Rare genetic syndromic intellectual disability True False False +Orphanet:183770 Rare genetic immune disease True False False +Orphanet:1839 Hereditary mucoepithelial dysplasia True False False +Orphanet:184 Cherubism True False False +Orphanet:1842 Bone dysplasia, lethal Holmgren type True False False +Orphanet:1848 Renal agenesis, bilateral True False False +Orphanet:185 Scimitar syndrome True False False +Orphanet:1851 Multicystic dysplastic kidney True False False +Orphanet:1852 X-linked retinal dysplasia True False False +Orphanet:1855 Spondyloenchondrodysplasia True False False +Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome True False False +Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome True False False +Orphanet:186 Primary biliary cholangitis True False False +Orphanet:1860 Thanatophoric dysplasia type 1 True False False +Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome True False False +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type True False False +Orphanet:1866 Focal, segmental or multifocal dystonia True False False +Orphanet:1867 Hereditary bullous dystrophy, macular type True False False +Orphanet:187 Citrullinemia True False False +Orphanet:1871 Progressive cone dystrophy True False False +Orphanet:1872 Cone rod dystrophy True False False +Orphanet:1873 Jalili syndrome True False False +Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome True False False +Orphanet:1876 Oculogastrointestinal muscular dystrophy True False False +Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 True False False +Orphanet:1879 Melorheostosis with osteopoikilosis True False False +Orphanet:188 Systemic capillary leak syndrome True False False +Orphanet:1880 Ebstein malformation of the tricuspid valve True False False +Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome True False False +Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome True False False +Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome True False False +Orphanet:1885 Isolated ectopia lentis True False False +Orphanet:189 Hidrotic ectodermal dysplasia True False False +Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome True False False +Orphanet:1892 Ectrodactyly-polydactyly syndrome True False False +Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease True False False +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion True False False +Orphanet:1895 Edinburgh malformation syndrome True False False +Orphanet:1896 EEC syndrome True False False +Orphanet:1897 EEM syndrome True False False +Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome True False False +Orphanet:19 2-hydroxyglutaric aciduria True False False +Orphanet:190 Coats disease True False False +Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency True False False +Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome True False False +Orphanet:1902 Ehrlichiosis True False False +Orphanet:1906 Fetal valproate spectrum disorder True False False +Orphanet:1908 Aminopterin/methotrexate embryofetopathy True False False +Orphanet:1909 Indomethacin embryofetopathy True False False +Orphanet:191 Cockayne syndrome True False False +Orphanet:1910 Fetal iodine syndrome True False False +Orphanet:1911 Cocaine embryofetopathy True False False +Orphanet:1912 Fetal hydantoin syndrome True False False +Orphanet:1913 Fetal trimethadione syndrome True False False +Orphanet:1914 Vitamin K antagonist embryofetopathy True False False +Orphanet:1915 Fetal alcohol syndrome True False False +Orphanet:1916 Diethylstilbestrol syndrome True False False +Orphanet:1917 Fetal methylmercury syndrome True False False +Orphanet:1918 Fetal minoxidil syndrome True False False +Orphanet:1919 Phenobarbital embryopathy True False False +Orphanet:192 Coffin-Lowry syndrome True False False +Orphanet:1920 Toluene embryopathy True False False +Orphanet:1923 Methimazole embryofetopathy True False False +Orphanet:1926 Diabetic embryopathy True False False +Orphanet:1927 Emery-Nelson syndrome True False False +Orphanet:1928 Congenital lobar emphysema True False False +Orphanet:1929 Rasmussen subacute encephalitis True False False +Orphanet:193 Cohen syndrome True False False +Orphanet:1930 Herpes simplex virus encephalitis True False False +Orphanet:1931 Frontal encephalocele True False False +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria True False False +Orphanet:1934 Early infantile epileptic encephalopathy True False False +Orphanet:1935 Early myoclonic encephalopathy True False False +Orphanet:1937 Eng-Strom syndrome True False False +Orphanet:1941 Juvenile absence epilepsy True False False +Orphanet:1942 Myoclonic-astatic epilepsy True False False +Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus True False False +Orphanet:1945 Rolandic epilepsy True False False +Orphanet:1946 Amelocerebrohypohidrotic syndrome True False False +Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type True False False +Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome True False False +Orphanet:1949 Benign familial neonatal epilepsy True False False +Orphanet:195 Cat-eye syndrome True False False +Orphanet:1951 Epilepsy-telangiectasia syndrome True False False +Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome True False False +Orphanet:1954 Congenital lethal erythroderma True False False +Orphanet:1955 Spinocerebellar ataxia type 34 True False False +Orphanet:1957 Esthesioneuroblastoma True False False +Orphanet:1959 Evans syndrome True False False +Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome True False False +Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome True False False +Orphanet:1968 Flat face-microstomia-ear anomaly syndrome True False False +Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome True False False +Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome True False False +Orphanet:1972 Lethal faciocardiomelic dysplasia True False False +Orphanet:1973 Faciocardiorenal syndrome True False False +Orphanet:1974 Autosomal recessive faciodigitogenital syndrome True False False +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency True False False +Orphanet:198 Occipital horn syndrome True False False +Orphanet:1980 Bilateral striopallidodentate calcinosis True False False +Orphanet:1986 Gollop-Wolfgang complex True False False +Orphanet:1987 Femoral agenesis/hypoplasia True False False +Orphanet:1988 Femoral-facial syndrome True False False +Orphanet:199 Cornelia de Lange syndrome True False False +Orphanet:1991 Cleft lip with or without cleft palate True False False +Orphanet:199241 Pulmonary capillary hemangiomatosis True False False +Orphanet:199244 Nelson syndrome True False False +Orphanet:199247 Corticosteroid-binding globulin deficiency True False False +Orphanet:199251 Ledderhose disease True False False +Orphanet:199257 Superficial fibromatosis True False False +Orphanet:199260 Calcifying aponeurotic fibroma True False False +Orphanet:199267 Infantile digital fibromatosis True False False +Orphanet:199276 Familial multiple lipomatosis True False False +Orphanet:199279 Familial angiolipomatosis True False False +Orphanet:199282 Harlequin syndrome True False False +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency True False False +Orphanet:199293 Congenital microgastria True False False +Orphanet:199296 Congenital isolated ACTH deficiency True False False +Orphanet:199299 Late-onset isolated ACTH deficiency True False False +Orphanet:1993 Pai syndrome True False False +Orphanet:199302 Isolated cleft lip True False False +Orphanet:199306 Cleft lip/palate True False False +Orphanet:199310 Tetragametic chimerism True False False +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies True False False +Orphanet:199318 15q13.3 microdeletion syndrome True False False +Orphanet:199323 Endophthalmitis True False False +Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type True False False +Orphanet:199329 Congenital myopathy, Paradas type True False False +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome True False False +Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome True False False +Orphanet:199340 Muscular dystrophy, Selcen type True False False +Orphanet:199343 EAST syndrome True False False +Orphanet:199348 Thiamine-responsive encephalopathy True False False +Orphanet:199351 Adult-onset dystonia-parkinsonism True False False +Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy True False False +Orphanet:1995 Cleft lip-retinopathy syndrome True False False +Orphanet:199627 Atypical autism True False False +Orphanet:199630 Isolated cerebellar vermis hypoplasia True False False +Orphanet:199633 Non-syndromic cerebral malformation True False False +Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature True False False +Orphanet:199642 Isolated congenital microcephaly True False False +Orphanet:199647 Isolated encephalocele True False False +Orphanet:1997 Blepharo-cheilo-odontic syndrome True False False +Orphanet:20 3-hydroxy-3-methylglutaric aciduria True False False +Orphanet:200 Isolated corpus callosum agenesis True False False +Orphanet:200037 Paroxysmal dystonia True False False +Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome True False False +Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome True False False +Orphanet:2004 Laryngotracheoesophageal cleft True False False +Orphanet:200418 Immunodeficiency with factor I anomaly True False False +Orphanet:200421 Immunodeficiency with factor H anomaly True False False +Orphanet:2006 Median cleft lip/mandible True False False +Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome True False False +Orphanet:2008 Acrocardiofacial syndrome True False False +Orphanet:201 Cowden syndrome True False False +Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome True False False +Orphanet:2013 Cleft palate-large ears-small head syndrome True False False +Orphanet:2014 Cleft palate True False False +Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome True False False +Orphanet:2016 Cleft palate-lateral synechia syndrome True False False +Orphanet:2017 Sternal cleft True False False +Orphanet:2019 Femur-fibula-ulna complex True False False +Orphanet:202 Crandall syndrome True False False +Orphanet:2020 Congenital fiber-type disproportion myopathy True False False +Orphanet:2021 Fibrochondrogenesis True False False +Orphanet:2022 Endocardial fibroelastosis True False False +Orphanet:2023 Undifferentiated pleomorphic sarcoma True False False +Orphanet:2024 Hereditary gingival fibromatosis True False False +Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome True False False +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome True False False +Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome True False False +Orphanet:2028 Juvenile hyaline fibromatosis True False False +Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin True False False +Orphanet:2030 Fibrosarcoma True False False +Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome True False False +Orphanet:2032 Idiopathic pulmonary fibrosis True False False +Orphanet:2034 Filariasis True False False +Orphanet:2035 Lymphatic filariasis True False False +Orphanet:2036 Scalp-ear-nipple syndrome True False False +Orphanet:2037 Congenital aortopulmonary window True False False +Orphanet:2038 Pulmonary arteriovenous malformation True False False +Orphanet:2039 Congenital systemic arteriovenous fistula True False False +Orphanet:204 Sporadic Creutzfeldt-Jakob disease True False False +Orphanet:2040 Congenital respiratory-biliary fistula True False False +Orphanet:2041 Coronary arterial fistula True False False +Orphanet:2044 Floating-Harbor syndrome True False False +Orphanet:2045 FLOTCH syndrome True False False +Orphanet:2047 Flynn-Aird syndrome True False False +Orphanet:2048 Foix-Chavany-Marie syndrome True False False +Orphanet:205 Crigler-Najjar syndrome True False False +Orphanet:2050 Cole-Carpenter syndrome True False False +Orphanet:2052 Fraser syndrome True False False +Orphanet:2053 Freeman-Sheldon syndrome True False False +Orphanet:2056 Essential fructosuria True False False +Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome True False False +Orphanet:2058 Fryns-Smeets-Thiry syndrome True False False +Orphanet:2059 Fryns syndrome True False False +Orphanet:2062 Progressive non-infectious anterior vertebral fusion True False False +Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome True False False +Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome True False False +Orphanet:206436 Infantile Krabbe disease True False False +Orphanet:206443 Late-infantile/juvenile Krabbe disease True False False +Orphanet:206448 Adult Krabbe disease True False False +Orphanet:206470 Cystadenoma of childhood True False False +Orphanet:206484 Gonadoblastoma True False False +Orphanet:206489 Malignant germ cell tumor of the vagina True False False +Orphanet:206492 Vulvovaginal rhabdomyosarcoma True False False +Orphanet:2065 Galloway-Mowat syndrome True False False +Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary True False False +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers True False False +Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 True False False +Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 True False False +Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 True False False +Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 True False False +Orphanet:206569 Immune-mediated necrotizing myopathy True False False +Orphanet:206572 Overlap myositis True False False +Orphanet:206575 Rippling muscle disease with myasthenia gravis True False False +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset True False False +Orphanet:206583 Adult polyglucosan body disease True False False +Orphanet:206586 Neurolymphomatosis True False False +Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy True False False +Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase True False False +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency True False False +Orphanet:206613 Infectious disease with peripheral neuropathy True False False +Orphanet:206638 Acquired skeletal muscle disease True False False +Orphanet:206644 Progressive muscular dystrophy True False False +Orphanet:206647 Myotonic dystrophy True False False +Orphanet:206650 Autosomal dominant distal myopathy True False False +Orphanet:206653 Autosomal recessive distal myopathy True False False +Orphanet:206656 Non-dystrophic myopathy True False False +Orphanet:206662 Inclusion myopathy True False False +Orphanet:2067 GAPO syndrome True False False +Orphanet:206701 Bulbospinal muscular atrophy True False False +Orphanet:206704 Bulbospinal muscular atrophy of childhood True False False +Orphanet:206707 Bulbospinal muscular atrophy of adult True False False +Orphanet:206710 Generalized bulbospinal muscular atrophy True False False +Orphanet:2069 Gastrocutaneous syndrome True False False +Orphanet:206953 Muscular lipidosis True False False +Orphanet:206959 Muscular glycogenosis True False False +Orphanet:206966 Mitochondrial myopathy True False False +Orphanet:206970 Myotonic syndrome True False False +Orphanet:206973 Congenital myotonia True False False +Orphanet:206976 Periodic paralysis True False False +Orphanet:206982 Muscular tumor True False False +Orphanet:206988 Infectious, fungal or parasitic myopathy True False False +Orphanet:206991 Viral myositis True False False +Orphanet:206994 Bacterial myositis True False False +Orphanet:206997 Parasitic myositis True False False +Orphanet:207 Crouzon syndrome True False False +Orphanet:2070 Eosinophilic gastroenteritis True False False +Orphanet:207000 Fungal myositis True False False +Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly True False False +Orphanet:207015 Rare hereditary disease with peripheral neuropathy True False False +Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy True False False +Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy True False False +Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy True False False +Orphanet:207028 Cerebellar ataxia with peripheral neuropathy True False False +Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy True False False +Orphanet:207046 Malignant lymphoma with peripheral neuropathy True False False +Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases True False False +Orphanet:207052 Qualitative or quantitative defects of sarcoglycan True False False +Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan True False False +Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan True False False +Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan True False False +Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan True False False +Orphanet:207073 Qualitative or quantitative defects of dysferlin True False False +Orphanet:207078 Qualitative or quantitative defects of caveolin-3 True False False +Orphanet:207085 Qualitative or quantitative defects of dystrophin True False False +Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy True False False +Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 True False False +Orphanet:207101 Qualitative or quantitative defects of perlecan True False False +Orphanet:207104 Qualitative or quantitative defects of calpain True False False +Orphanet:207107 Qualitative or quantitative defects of TRIM32 True False False +Orphanet:207110 Qualitative or quantitative defects of myotubularin True False False +Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan True False False +Orphanet:207119 Qualitative or quantitative defects of FKRP True False False +Orphanet:207122 Qualitative or quantitative defects of fukutin True False False +Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome True False False +Orphanet:2073 Narcolepsy type 1 True False False +Orphanet:2074 Gemignani syndrome True False False +Orphanet:2075 Genitopalatocardiac syndrome True False False +Orphanet:2076 X-linked intellectual disability-epilepsy syndrome True False False +Orphanet:2077 German syndrome True False False +Orphanet:2078 Geroderma osteodysplastica True False False +Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome True False False +Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome True False False +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria True False False +Orphanet:208444 Bilateral frontal polymicrogyria True False False +Orphanet:208447 Bilateral generalized polymicrogyria True False False +Orphanet:2085 Glaucoma-sleep apnea syndrome True False False +Orphanet:208508 Autosomal dominant cerebellar ataxia type II True False False +Orphanet:208513 Spinocerebellar ataxia type 29 True False False +Orphanet:208524 Herpetiform pemphigus True False False +Orphanet:208593 Genetic hypoparathyroidism True False False +Orphanet:208596 Genetic hyperparathyroidism True False False +Orphanet:2086 Optic pathway glioma True False False +Orphanet:208650 NLRP3-associated autoinflammatory disease True False False +Orphanet:2088 Fanconi-Bickel syndrome True False False +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency True False False +Orphanet:208974 Chronic acquired demyelinating polyneuropathy True False False +Orphanet:208978 Chronic polyradiculoneuropathy True False False +Orphanet:208984 Acquired sensory ganglionopathy True False False +Orphanet:208989 Non-paraneoplastic sensory ganglionopathy True False False +Orphanet:208999 Paraneoplastic sensory ganglionopathy True False False +Orphanet:209 Cutis laxa True False False +Orphanet:2090 GMS syndrome True False False +Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy True False False +Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy True False False +Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy True False False +Orphanet:209013 Acquired amyloid peripheral neuropathy True False False +Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy True False False +Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy True False False +Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase True False False +Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like True False False +Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 True False False +Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 True False False +Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins True False False +Orphanet:209041 Qualitative or quantitative defects of desmin True False False +Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin True False False +Orphanet:209047 Qualitative or quantitative defects of filamin C True False False +Orphanet:209050 Qualitative or quantitative defects of protein ZASP True False False +Orphanet:209053 Qualitative or quantitative defects of titin True False False +Orphanet:209056 Qualitative or quantitative defects of telethonin True False False +Orphanet:209059 Qualitative or quantitative defects of alpha-actin True False False +Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome True False False +Orphanet:209182 Qualitative or quantitative defects of nebulin True False False +Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) True False False +Orphanet:209188 Qualitative or quantitative defects of emerin True False False +Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 True False False +Orphanet:209196 Qualitative or quantitative defects of plectin True False False +Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 True False False +Orphanet:2092 Focal dermal hypoplasia True False False +Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - True False False +Orphanet:209224 Myotilinopathy True False False +Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy True False False +Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy True False False +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly True False False +Orphanet:2095 Gorlin-Chaudhry-Moss syndrome True False False +Orphanet:2097 Grant syndrome True False False +Orphanet:2098 Acromesomelic dysplasia, Grebe type True False False +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment True False False +Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency True False False +Orphanet:209905 Brain-lung-thyroid syndrome True False False +Orphanet:209908 Isolated childhood apraxia of speech True False False +Orphanet:209916 Extraskeletal myxoid chondrosarcoma True False False +Orphanet:209919 Idiopathic copper-associated cirrhosis True False False +Orphanet:209932 Cone dystrophy with supernormal rod response True False False +Orphanet:209943 IRVAN syndrome True False False +Orphanet:209951 Autosomal spastic paraplegia type 18 True False False +Orphanet:209956 Idiopathic uveal effusion syndrome True False False +Orphanet:209959 Phacoanaphylactic uveitis True False False +Orphanet:209964 Solitary rectal ulcer syndrome True False False +Orphanet:209967 Episodic ataxia type 6 True False False +Orphanet:209970 Episodic ataxia type 7 True False False +Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood True False False +Orphanet:209978 Alternating hemiplegia True False False +Orphanet:209981 IRIDA syndrome True False False +Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder True False False +Orphanet:210 Cyclosporiasis True False False +Orphanet:2101 Grubben-de Cock-Borghgraef syndrome True False False +Orphanet:210110 Intermediate osteopetrosis True False False +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis True False False +Orphanet:210122 Congenital alveolar capillary dysplasia True False False +Orphanet:210128 Urocanic aciduria True False False +Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome True False False +Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome True False False +Orphanet:210141 Inherited congenital spastic tetraplegia True False False +Orphanet:210144 Lethal polymalformative syndrome, Boissel type True False False +Orphanet:210159 Adult hepatocellular carcinoma True False False +Orphanet:210163 Congenital lethal myopathy, Compton-North type True False False +Orphanet:2102 GTP cyclohydrolase I deficiency True False False +Orphanet:210272 Mal de débarquement True False False +Orphanet:2103 Guillain-Barré syndrome True False False +Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome True False False +Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome True False False +Orphanet:210571 Dystonia 16 True False False +Orphanet:210576 Congenital temporomandibular joint ankylosis True False False +Orphanet:210581 Temporomandibular joint anomaly True False False +Orphanet:210584 Spindle cell hemangioma True False False +Orphanet:210589 Infantile hemangioma of rare localization True False False +Orphanet:2107 Hall-Riggs syndrome True False False +Orphanet:2108 Hallermann-Streiff syndrome True False False +Orphanet:2109 Hallermann-Streiff-like syndrome True False False +Orphanet:211 Familial cylindromatosis True False False +Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome True False False +Orphanet:211017 Spinocerebellar ataxia type 30 True False False +Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy True False False +Orphanet:211047 Specific learning disability True False False +Orphanet:211053 Specific language disorder True False False +Orphanet:211062 Hereditary episodic ataxia True False False +Orphanet:211067 Episodic ataxia type 5 True False False +Orphanet:2111 Cystic hamartoma of lung and kidney True False False +Orphanet:211237 Rare vascular tumor True False False +Orphanet:211240 Genetic vascular anomaly True False False +Orphanet:211243 Simple vascular malformation True False False +Orphanet:211247 Rare capillary malformation True False False +Orphanet:211252 Rare venous malformation True False False +Orphanet:211255 Rare lymphatic system anomaly True False False +Orphanet:211266 Rare arteriovenous malformation True False False +Orphanet:211277 Complex vascular malformation with associated anomalies True False False +Orphanet:2114 Hip dysplasia, Beukes type True False False +Orphanet:2115 Harrod syndrome True False False +Orphanet:2116 Hartnup disease True False False +Orphanet:2117 Hartsfield syndrome True False False +Orphanet:2118 Hawkinsinuria True False False +Orphanet:2119 HEC syndrome True False False +Orphanet:212 Cystathioninuria True False False +Orphanet:2122 Kaposiform hemangioendothelioma True False False +Orphanet:2123 Diffuse neonatal hemangiomatosis True False False +Orphanet:2126 Solitary fibrous tumor True False False +Orphanet:2128 Isolated hemihyperplasia True False False +Orphanet:213 Cystinosis True False False +Orphanet:2130 Hemimelia True False False +Orphanet:2131 Alternating hemiplegia of childhood True False False +Orphanet:2132 Hemoglobin C disease True False False +Orphanet:2133 Hemoglobin E disease True False False +Orphanet:2134 Atypical hemolytic uremic syndrome True False False +Orphanet:2135 Hennekam-Beemer syndrome True False False +Orphanet:213500 Ovarian cancer True False False +Orphanet:213504 Adenocarcinoma of ovary True False False +Orphanet:213512 Malignant mixed Müllerian tumor of the ovary True False False +Orphanet:213528 Rare adenocarcinoma of the breast True False False +Orphanet:213531 Metaplastic carcinoma of the breast True False False +Orphanet:213557 Salivary gland type cancer of the breast True False False +Orphanet:213564 Rare uterine cancer True False False +Orphanet:213569 Rare cancer of corpus uteri True False False +Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri True False False +Orphanet:2136 Hennekam syndrome True False False +Orphanet:213600 Adenosarcoma of the corpus uteri True False False +Orphanet:213605 Carcinofibroma of the corpus uteri True False False +Orphanet:213610 Carcinosarcoma of the corpus uteri True False False +Orphanet:213615 Rhabdomyosarcoma of the corpus uteri True False False +Orphanet:213620 Sarcoma of the corpus uteri True False False +Orphanet:213625 Leiomyosarcoma of the corpus uteri True False False +Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri True False False +Orphanet:2137 Autoimmune hepatitis True False False +Orphanet:213711 Endometrial stromal sarcoma True False False +Orphanet:213716 Squamous cell carcinoma of the corpus uteri True False False +Orphanet:213721 Undifferentiated carcinoma of the corpus uteri True False False +Orphanet:213726 Serous carcinoma of the corpus uteri True False False +Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri True False False +Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri True False False +Orphanet:213746 Transitional cell carcinoma of the corpus uteri True False False +Orphanet:213751 Malignant germ cell tumor of the corpus uteri True False False +Orphanet:213761 Rare cancer of cervix uteri True False False +Orphanet:213767 Squamous cell carcinoma of the cervix uteri True False False +Orphanet:213772 Adenocarcinoma of the cervix uteri True False False +Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri True False False +Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri True False False +Orphanet:213787 Carcinosarcoma of the cervix uteri True False False +Orphanet:213792 Adenosarcoma of the cervix uteri True False False +Orphanet:213797 Sarcoma of cervix uteri True False False +Orphanet:2138 46,XX ovotesticular difference of sex development True False False +Orphanet:213802 Rhabdomyosarcoma of the cervix uteri True False False +Orphanet:213807 Leiomyosarcoma of the cervix uteri True False False +Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri True False False +Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri True False False +Orphanet:213828 Adenoid basal carcinoma of the cervix uteri True False False +Orphanet:213833 Glassy cell carcinoma of the cervix uteri True False False +Orphanet:213837 Malignant germ cell tumor of the cervix uteri True False False +Orphanet:2139 Hernández-Aguirre Negrete syndrome True False False +Orphanet:214 Cystinuria True False False +Orphanet:2140 Congenital diaphragmatic hernia True False False +Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome True False False +Orphanet:2143 Donnai-Barrow syndrome True False False +Orphanet:2145 Craniosynostosis, Herrmann-Opitz type True False False +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation True False False +Orphanet:2149 Nodular neuronal heterotopia True False False +Orphanet:215 Congenital stationary night blindness True False False +Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome True False False +Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome True False False +Orphanet:2152 Mowat-Wilson syndrome True False False +Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome True False False +Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome True False False +Orphanet:2157 Histidinemia True False False +Orphanet:2158 Histidinuria-renal tubular defect syndrome True False False +Orphanet:216 Neuronal ceroid lipofuscinosis True False False +Orphanet:2162 Holoprosencephaly True False False +Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome True False False +Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome True False False +Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome True False False +Orphanet:216675 Transposition of the great arteries True False False +Orphanet:216694 Congenitally corrected transposition of the great arteries True False False +Orphanet:2167 Holzgreve syndrome True False False +Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries True False False +Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation True False False +Orphanet:216796 Osteogenesis imperfecta type 1 True False False +Orphanet:216804 Osteogenesis imperfecta type 2 True False False +Orphanet:216812 Osteogenesis imperfecta type 3 True False False +Orphanet:216820 Osteogenesis imperfecta type 4 True False False +Orphanet:216828 Osteogenesis imperfecta type 5 True False False +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration True False False +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration True False False +Orphanet:2169 Methylcobalamin deficiency type cblE True False False +Orphanet:216972 Niemann-Pick disease type C, severe perinatal form True False False +Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset True False False +Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset True False False +Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset True False False +Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset True False False +Orphanet:217 Isolated Dandy-Walker malformation True False False +Orphanet:2170 Methylcobalamin deficiency type cblG True False False +Orphanet:217008 Bockenheimer syndrome True False False +Orphanet:217012 Spinocerebellar ataxia type 31 True False False +Orphanet:217017 Zechi-Ceide syndrome True False False +Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type True False False +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A True False False +Orphanet:217059 Isolated congenital digital clubbing True False False +Orphanet:217064 5-fluorouracil poisoning True False False +Orphanet:217067 Pouchitis True False False +Orphanet:217074 Rare carcinoma of pancreas True False False +Orphanet:217085 Mucopolysaccharidosis type 2, severe form True False False +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form True False False +Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome True False False +Orphanet:217253 NMDA receptor encephalitis True False False +Orphanet:217260 Progressive multifocal leukoencephalopathy True False False +Orphanet:217266 BNAR syndrome True False False +Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease True False False +Orphanet:217335 RIN2 syndrome True False False +Orphanet:217340 17q21.31 microduplication syndrome True False False +Orphanet:217346 19q13.11 microdeletion syndrome True False False +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins True False False +Orphanet:217377 Microduplication Xp11.22p11.23 syndrome True False False +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency True False False +Orphanet:217385 17p13.3 microduplication syndrome True False False +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency True False False +Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis True False False +Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation True False False +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles True False False +Orphanet:217454 Rare hereditary thrombophilia True False False +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency True False False +Orphanet:217557 Pulmonary interstitial glycogenosis True False False +Orphanet:217560 Neuroendocrine cell hyperplasia of infancy True False False +Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency True False False +Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency True False False +Orphanet:2176 Infantile systemic hyalinosis True False False +Orphanet:217604 Dilated cardiomyopathy True False False +Orphanet:217607 Familial dilated cardiomyopathy True False False +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy True False False +Orphanet:217629 Non-familial dilated cardiomyopathy True False False +Orphanet:217632 Restrictive cardiomyopathy True False False +Orphanet:217635 Familial restrictive cardiomyopathy True False False +Orphanet:217656 Inherited isolated arrhythmogenic cardiomyopathy True False False +Orphanet:217678 Unclassified cardiomyopathy True False False +Orphanet:2177 Hydranencephaly True False False +Orphanet:217720 Non-familial restrictive cardiomyopathy True False False +Orphanet:218 Darier disease True False False +Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome True False False +Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome True False False +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius True False False +Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome True False False +Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome True False False +Orphanet:218436 Rare cardiac rhythm disease True False False +Orphanet:218439 Non-genetic cardiac rhythm disease True False False +Orphanet:2185 Congenital hydrocephalus True False False +Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome True False False +Orphanet:2189 Hydrolethalus True False False +Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 True False False +Orphanet:2195 Dicarboxylic aminoaciduria True False False +Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement True False False +Orphanet:2197 Idiopathic hypercalciuria True False False +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome True False False +Orphanet:2199 Epidermolytic palmoplantar keratoderma True False False +Orphanet:22 Succinic semialdehyde dehydrogenase deficiency True False False +Orphanet:220 Denys-Drash syndrome True False False +Orphanet:2200 Focal palmoplantar and gingival keratoderma True False False +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome True False False +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome True False False +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex True False False +Orphanet:2203 Hyperlysinemia True False False +Orphanet:220386 Semilobar holoprosencephaly True False False +Orphanet:220393 Diffuse cutaneous systemic sclerosis True False False +Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type True False False +Orphanet:220402 Limited cutaneous systemic sclerosis True False False +Orphanet:220407 Limited systemic sclerosis True False False +Orphanet:220436 Quebec platelet disorder True False False +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency True False False +Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency True False False +Orphanet:220452 Isolated hereditary giant platelet disorder True False False +Orphanet:220460 Attenuated familial adenomatous polyposis True False False +Orphanet:220465 Laron syndrome with immunodeficiency True False False +Orphanet:220493 Joubert syndrome with ocular defect True False False +Orphanet:220497 Joubert syndrome with renal defect True False False +Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis True False False +Orphanet:2207 Familial primary hyperparathyroidism True False False +Orphanet:2209 Maternal phenylketonuria True False False +Orphanet:221 Dermatomyositis True False False +Orphanet:221008 Rothmund-Thomson syndrome type 1 True False False +Orphanet:221016 Rothmund-Thomson syndrome type 2 True False False +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type True False False +Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome True False False +Orphanet:221046 Poikiloderma with neutropenia True False False +Orphanet:221054 Acrocephalopolydactyly True False False +Orphanet:221061 Familial cerebral cavernous malformation True False False +Orphanet:221074 Marchiafava-Bignami disease True False False +Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves True False False +Orphanet:221083 Hemifacial spasm True False False +Orphanet:221091 Trigeminal neuralgia True False False +Orphanet:221098 Glossopharyngeal neuralgia True False False +Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome True False False +Orphanet:221109 Cranial neuralgia True False False +Orphanet:221114 Acquired peripheral movement disorder True False False +Orphanet:221117 Gerstmann syndrome True False False +Orphanet:221120 Pseudoaminopterin syndrome True False False +Orphanet:221126 Fowler vasculopathy True False False +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies True False False +Orphanet:221142 Confetti-like macular atrophy True False False +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies True False False +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome True False False +Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome True False False +Orphanet:2216 Maternal hyperthermia-induced birth defects True False False +Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome True False False +Orphanet:222 Erosive pustular dermatosis of the scalp True False False +Orphanet:2220 Hypertrichosis cubiti True False False +Orphanet:2221 Acquired hypertrichosis lanuginosa True False False +Orphanet:2222 Hypertrichosis lanuginosa congenita True False False +Orphanet:2224 Hypertryptophanemia True False False +Orphanet:222628 Hereditary poikiloderma True False False +Orphanet:2228 Hypodontia-dysplasia of nails syndrome True False False +Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome True False False +Orphanet:223 Nephrogenic diabetes insipidus True False False +Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome True False False +Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome True False False +Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome True False False +Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome True False False +Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome True False False +Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome True False False +Orphanet:223713 Mitochondrial oxidative phosphorylation disorder True False False +Orphanet:223727 Bone sarcoma True False False +Orphanet:2238 Familial isolated hypoparathyroidism True False False +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland True False False +Orphanet:224 Neonatal diabetes mellitus True False False +Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome True False False +Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome True False False +Orphanet:2248 Hypoplastic left heart syndrome True False False +Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome True False False +Orphanet:225 Maternally-inherited diabetes and deafness True False False +Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome True False False +Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome True False False +Orphanet:225123 TFR2-related hemochromatosis True False False +Orphanet:225147 Sporadic infantile bilateral striatal necrosis True False False +Orphanet:225154 Familial infantile bilateral striatal necrosis True False False +Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome True False False +Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome True False False +Orphanet:2254 Pontocerebellar hypoplasia type 1 True False False +Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome True False False +Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome True False False +Orphanet:225681 Lysosomal disease with epilepsy True False False +Orphanet:225686 Peroxisomal disease with epilepsy True False False +Orphanet:225689 Amino acid or protein metabolism disease with epilepsy True False False +Orphanet:225692 Metal transport or utilization disorder with epilepsy True False False +Orphanet:225696 Energy metabolism disorder with epilepsy True False False +Orphanet:2257 Primary pulmonary hypoplasia True False False +Orphanet:225700 Mitochondrial disease with epilepsy True False False +Orphanet:225703 Mitochondrial disease with peripheral neuropathy True False False +Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy True False False +Orphanet:225710 Sterol metabolism disorder with epilepsy True False False +Orphanet:225713 Other metabolic disease with epilepsy True False False +Orphanet:226 Dihydropteridine reductase deficiency True False False +Orphanet:2260 Oligomeganephronia True False False +Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome True False False +Orphanet:226292 Permanent congenital hypothyroidism True False False +Orphanet:226295 Primary congenital hypothyroidism True False False +Orphanet:226298 Central congenital hypothyroidism True False False +Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function True False False +Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs True False False +Orphanet:226316 Genetic transient congenital hypothyroidism True False False +Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type True False False +Orphanet:2268 ICF syndrome True False False +Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome True False False +Orphanet:227 Diphallia True False False +Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome True False False +Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome True False False +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome True False False +Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome True False False +Orphanet:227510 Multiple system atrophy, cerebellar type True False False +Orphanet:227535 Hereditary breast cancer True False False +Orphanet:227796 Fundus albipunctatus True False False +Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome True False False +Orphanet:227972 Toxic oil syndrome True False False +Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type True False False +Orphanet:227982 Autoimmune polyendocrinopathy type 3 True False False +Orphanet:227990 Autoimmune polyendocrinopathy type 4 True False False +Orphanet:228000 Idiopathic CD4 lymphocytopenia True False False +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency True False False +Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome True False False +Orphanet:228113 Anal fistula True False False +Orphanet:228116 Hughes-Stovin syndrome True False False +Orphanet:228119 Fusariosis True False False +Orphanet:228123 Coccidioidomycosis True False False +Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type True False False +Orphanet:228145 Multiple sclerosis variant True False False +Orphanet:228157 Marburg acute multiple sclerosis True False False +Orphanet:228165 Baló concentric sclerosis True False False +Orphanet:228169 Autosomal dominant striatal neurodegeneration True False False +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N True False False +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M True False False +Orphanet:228184 Heart-hand syndrome True False False +Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome True False False +Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome True False False +Orphanet:228218 Acquired dermis elastic tissue disorder True False False +Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue True False False +Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue True False False +Orphanet:228227 Late-onset focal dermal elastosis True False False +Orphanet:228236 Linear focal elastosis True False False +Orphanet:228240 Elastoderma True False False +Orphanet:228243 Elastofibroma dorsi True False False +Orphanet:228247 Acquired pseudoxanthoma elasticum True False False +Orphanet:228254 Elastoma True False False +Orphanet:228264 Papular elastorrhexis True False False +Orphanet:228272 Primary anetoderma True False False +Orphanet:228277 Familial anetoderma True False False +Orphanet:228285 Acquired cutis laxa True False False +Orphanet:228290 White fibrous papulosis of the neck True False False +Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis True False False +Orphanet:228299 Mid-dermal elastolysis True False False +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form True False False +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form True False False +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form True False False +Orphanet:228312 Autoimmune hemolytic anemia, cold type True False False +Orphanet:228371 Foodborne botulism True False False +Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 True False False +Orphanet:228379 Virus-associated trichodysplasia spinulosa True False False +Orphanet:228384 5q14.3 microdeletion syndrome True False False +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia True False False +Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome True False False +Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome True False False +Orphanet:228399 8q12 microduplication syndrome True False False +Orphanet:228402 2q23.1 microdeletion syndrome True False False +Orphanet:228410 Polyvalvular heart disease syndrome True False False +Orphanet:228415 5q35 microduplication syndrome True False False +Orphanet:228423 Monocytopenia with susceptibility to infections True False False +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency True False False +Orphanet:2285 Primary basilar invagination True False False +Orphanet:2287 Fused mandibular incisors True False False +Orphanet:2289 Neuronal intranuclear inclusion disease True False False +Orphanet:229 Familial aortic dissection True False False +Orphanet:2290 Microvillus inclusion disease True False False +Orphanet:2291 Congenital velopharyngeal incompetence True False False +Orphanet:2295 Familial articular hypermobility syndrome True False False +Orphanet:2297 Insulin-resistance syndrome type A True False False +Orphanet:229717 Isolated agammaglobulinemia True False False +Orphanet:229720 Syndromic agammaglobulinemia True False False +Orphanet:2298 Insulin-resistance syndrome type B True False False +Orphanet:2299 Aortic arch interruption True False False +Orphanet:23 Argininosuccinic aciduria True False False +Orphanet:230 Dopamine beta-hydroxylase deficiency True False False +Orphanet:2300 Multiple intestinal atresia True False False +Orphanet:2301 Congenital short bowel syndrome True False False +Orphanet:2302 Asbestos intoxication True False False +Orphanet:2305 Isotretinoin syndrome True False False +Orphanet:2306 Isotretinoin-like syndrome True False False +Orphanet:2307 IVIC syndrome True False False +Orphanet:2308 Jacobsen syndrome True False False +Orphanet:230800 Toxin-mediated infectious botulism True False False +Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 True False False +Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome True False False +Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome True False False +Orphanet:2309 Pachyonychia congenita True False False +Orphanet:231 Dracunculiasis True False False +Orphanet:2310 Absence deformity of leg-cataract syndrome True False False +Orphanet:231013 Congenital trigeminal anesthesia True False False +Orphanet:231031 Erythema palmare hereditarium True False False +Orphanet:231040 Familial generalized lentiginosis True False False +Orphanet:2311 Autosomal recessive spondylocostal dysostosis True False False +Orphanet:231108 Rhabdoid tumor predisposition syndrome True False False +Orphanet:231111 Drug-induced lupus erythematosus True False False +Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 True False False +Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation True False False +Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion True False False +Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion True False False +Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication True False False +Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 True False False +Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication True False False +Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 True False False +Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency True False False +Orphanet:231160 Familial cerebral saccular aneurysm True False False +Orphanet:231169 Usher syndrome type 1 True False False +Orphanet:231178 Usher syndrome type 2 True False False +Orphanet:231183 Usher syndrome type 3 True False False +Orphanet:2312 Transient familial neonatal hyperbilirubinemia True False False +Orphanet:231214 Beta-thalassemia major True False False +Orphanet:231222 Beta-thalassemia intermedia True False False +Orphanet:231226 Dominant beta-thalassemia True False False +Orphanet:231237 Delta-beta-thalassemia True False False +Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome True False False +Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome True False False +Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome True False False +Orphanet:2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency True False False +Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome True False False +Orphanet:231413 Variant of Guillain-Barré syndrome True False False +Orphanet:231416 Regional variant of Guillain-Barré syndrome True False False +Orphanet:231419 Functional variant of Guillain-Barré syndrome True False False +Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome True False False +Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome True False False +Orphanet:231450 Acute pure sensory neuropathy True False False +Orphanet:231457 Acute pandysautonomia True False False +Orphanet:231466 Acute sensory ataxic neuropathy True False False +Orphanet:2315 Johanson-Blizzard syndrome True False False +Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency True False False +Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency True False False +Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency True False False +Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome True False False +Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa True False False +Orphanet:231573 Congenital erosive and vesicular dermatosis True False False +Orphanet:231580 Primary unilateral adrenal hyperplasia True False False +Orphanet:2316 Johnson neuroectodermal syndrome True False False +Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion True False False +Orphanet:231632 Ectopic aldosterone-producing tumor True False False +Orphanet:231637 Rare surgically correctable form of primary aldosteronism True False False +Orphanet:231641 Rare non surgically correctable form of primary aldosteronism True False False +Orphanet:231662 Isolated growth hormone deficiency type IA True False False +Orphanet:231671 Isolated growth hormone deficiency type IB True False False +Orphanet:231679 Isolated growth hormone deficiency type II True False False +Orphanet:231692 Isolated growth hormone deficiency type III True False False +Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome True False False +Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome True False False +Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome True False False +Orphanet:2318 Joubert syndrome with oculorenal defect True False False +Orphanet:2319 Juberg-Hayward syndrome True False False +Orphanet:232 Sickle cell anemia True False False +Orphanet:232035 Infectious embryofetopathy True False False +Orphanet:2321 Jung syndrome True False False +Orphanet:2322 Kabuki syndrome True False False +Orphanet:2323 Sanjad-Sakati syndrome True False False +Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome True False False +Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia True False False +Orphanet:2326 Kallmann syndrome-heart disease syndrome True False False +Orphanet:2328 Kapur-Toriello syndrome True False False +Orphanet:2329 Karsch-Neugebauer syndrome True False False +Orphanet:233 Duane retraction syndrome True False False +Orphanet:2330 Kasabach-Merritt phenomenon True False False +Orphanet:2331 Kawasaki disease True False False +Orphanet:2332 KBG syndrome True False False +Orphanet:2333 Kenny-Caffey syndrome True False False +Orphanet:2334 Autosomal dominant keratitis True False False +Orphanet:233655 Rare genetic vascular disease True False False +Orphanet:2337 Diffuse palmoplantar keratoderma, Bothnian type True False False +Orphanet:2338 Isolated punctate palmoplantar keratoderma True False False +Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome True False False +Orphanet:234 Dubin-Johnson syndrome True False False +Orphanet:2340 Keratosis follicularis spinulosa decalvans True False False +Orphanet:2342 Haim-Munk syndrome True False False +Orphanet:2345 Isolated Klippel-Feil syndrome True False False +Orphanet:2346 Angioosteohypertrophic syndrome True False False +Orphanet:2347 Lethal Kniest-like dysplasia True False False +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type True False False +Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome True False False +Orphanet:235 Dubowitz syndrome True False False +Orphanet:2351 Kousseff syndrome True False False +Orphanet:2353 Schilbach-Rott syndrome True False False +Orphanet:2356 Arachnoid cyst True False False +Orphanet:2357 Bronchogenic cyst True False False +Orphanet:235832 Congenital vascular bone syndrome True False False +Orphanet:236 Trisomy 9p True False False +Orphanet:2363 Lacrimoauriculodentodigital syndrome True False False +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency True False False +Orphanet:2368 Gastroschisis True False False +Orphanet:2369 Limb body wall complex True False False +Orphanet:237 Duplication of urethra True False False +Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome True False False +Orphanet:2371 Lethal Larsen-like syndrome True False False +Orphanet:2372 Laryngocele True False False +Orphanet:2373 Congenital laryngomalacia True False False +Orphanet:2374 Congenital laryngeal web True False False +Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome True False False +Orphanet:2377 Laurence-Moon syndrome True False False +Orphanet:2378 Laurin-Sandrow syndrome True False False +Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome True False False +Orphanet:238 Digestive duplication True False False +Orphanet:2380 Legg-Calvé-Perthes disease True False False +Orphanet:2382 Lennox-Gastaut syndrome True False False +Orphanet:238269 AApoAII amyloidosis True False False +Orphanet:238305 Infundibulo-neurohypophysitis True False False +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy True False False +Orphanet:238446 15q11q13 microduplication syndrome True False False +Orphanet:238455 Infantile dystonia-parkinsonism True False False +Orphanet:238459 SLC35A1-CDG True False False +Orphanet:238468 Hypohidrotic ectodermal dysplasia True False False +Orphanet:238475 Familial hypercholanemia True False False +Orphanet:238505 Combined immunodeficiency due to CD27 deficiency True False False +Orphanet:238523 Atypical hypotonia-cystinuria syndrome True False False +Orphanet:238536 Congenital secondary polycythemia True False False +Orphanet:238547 Acquired secondary polycythemia True False False +Orphanet:238557 Chuvash erythrocytosis True False False +Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome True False False +Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication True False False +Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency True False False +Orphanet:238593 IgG4-related mesenteritis True False False +Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome True False False +Orphanet:238606 Primary orthostatic tremor True False False +Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation True False False +Orphanet:238624 Idiopathic intracranial hypertension True False False +Orphanet:238637 Megacystis-megaureter syndrome True False False +Orphanet:238642 Primary megaureter, adult-onset form True False False +Orphanet:238646 Congenital primary megaureter, obstructed form True False False +Orphanet:238650 Congenital primary megaureter, refluxing form True False False +Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form True False False +Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism True False False +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency True False False +Orphanet:238688 Neonatal iodine exposure True False False +Orphanet:238696 Transient congenital hypothyroidism due to maternal factor True False False +Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor True False False +Orphanet:2387 Leukonychia totalis True False False +Orphanet:238722 Familial congenital mirror movements True False False +Orphanet:238744 Mammary-digital-nail syndrome True False False +Orphanet:238750 4q21 microdeletion syndrome True False False +Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea True False False +Orphanet:238769 1q44 microdeletion syndrome True False False +Orphanet:2388 Choreoacanthocytosis True False False +Orphanet:239 Dyggve-Melchior-Clausen disease True False False +Orphanet:2390 Lichtenstein syndrome True False False +Orphanet:2391 Congenitally short costocoracoid ligament True False False +Orphanet:2394 Pyruvate dehydrogenase E3 deficiency True False False +Orphanet:2396 Encephalocraniocutaneous lipomatosis True False False +Orphanet:2398 Multiple symmetric lipomatosis True False False +Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome True False False +Orphanet:24 Fumaric aciduria True False False +Orphanet:240 Léri-Weill dyschondrosteosis True False False +Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome True False False +Orphanet:240071 Classic progressive supranuclear palsy syndrome True False False +Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome True False False +Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome True False False +Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome True False False +Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome True False False +Orphanet:240371 Syndromic obesity True False False +Orphanet:2404 Loiasis True False False +Orphanet:2405 Thickened earlobes-conductive deafness syndrome True False False +Orphanet:2406 Locked-in syndrome True False False +Orphanet:2407 Laryngo-onycho-cutaneous syndrome True False False +Orphanet:240760 Nijmegen breakage syndrome-like disorder True False False +Orphanet:2408 Lowe-Kohn-Cohen syndrome True False False +Orphanet:2409 Lowry-MacLean syndrome True False False +Orphanet:241 Dyschromatosis universalis hereditaria True False False +Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome True False False +Orphanet:2412 Dislocation of the hip-dysmorphism syndrome True False False +Orphanet:2414 Congenital pulmonary lymphangiectasia True False False +Orphanet:2415 Rare lymphatic malformation True False False +Orphanet:242 46,XY complete gonadal dysgenesis True False False +Orphanet:2420 Primary pulmonary lymphoma True False False +Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome True False False +Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome True False False +Orphanet:243 46,XX gonadal dysgenesis True False False +Orphanet:2430 Congenital macroglossia True False False +Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome True False False +Orphanet:243343 Dimethylglycine dehydrogenase deficiency True False False +Orphanet:243367 Acute fatty liver of pregnancy True False False +Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome True False False +Orphanet:2437 Czeizel-Losonci syndrome True False False +Orphanet:2438 Hand-foot-genital syndrome True False False +Orphanet:2439 Patterson-Stevenson-Fontaine syndrome True False False +Orphanet:244 Primary ciliary dyskinesia True False False +Orphanet:2440 Isolated split hand-split foot malformation True False False +Orphanet:244242 HELLP syndrome True False False +Orphanet:244283 Biliary atresia with splenic malformation syndrome True False False +Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies True False False +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis True False False +Orphanet:244310 RFT1-CDG True False False +Orphanet:2444 Congenital pulmonary airway malformation True False False +Orphanet:2445 Conotruncal heart malformations True False False +Orphanet:2447 Congenital mitral malformation True False False +Orphanet:245 Nager syndrome True False False +Orphanet:2451 Mucocutaneous venous malformations True False False +Orphanet:2456 Familial supernumerary nipples True False False +Orphanet:2457 Mandibuloacral dysplasia True False False +Orphanet:2459 Mansonelliasis True False False +Orphanet:246 Postaxial acrofacial dysostosis True False False +Orphanet:2460 Van den Ende-Gupta syndrome True False False +Orphanet:2461 Marden-Walker syndrome True False False +Orphanet:2462 Shprintzen-Goldberg syndrome True False False +Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome True False False +Orphanet:2464 Marfanoid syndrome, De Silva type True False False +Orphanet:2466 MASA syndrome True False False +Orphanet:2467 Systemic mastocytosis True False False +Orphanet:2470 Matthew-Wood syndrome True False False +Orphanet:2471 McDonough syndrome True False False +Orphanet:247165 Infantile mercury poisoning True False False +Orphanet:247198 Progressive cerebello-cerebral atrophy True False False +Orphanet:247203 Collecting duct carcinoma True False False +Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology True False False +Orphanet:247239 Non-hereditary degenerative ataxia True False False +Orphanet:247242 Acquired ataxia True False False +Orphanet:247245 Superficial siderosis True False False +Orphanet:247257 Inhalational anthrax True False False +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome True False False +Orphanet:2473 McKusick-Kaufman syndrome True False False +Orphanet:247353 Generalized pustular psoriasis True False False +Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene True False False +Orphanet:2475 White forelock with malformations True False False +Orphanet:247511 Autosomal dominant secondary polycythemia True False False +Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome True False False +Orphanet:247525 Citrullinemia type I True False False +Orphanet:247546 Acute neonatal citrullinemia type I True False False +Orphanet:247573 Late-onset citrullinemia type I True False False +Orphanet:247582 Citrin deficiency True False False +Orphanet:247585 Citrullinemia type II True False False +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency True False False +Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome True False False +Orphanet:247604 Juvenile primary lateral sclerosis True False False +Orphanet:247623 Perinatal lethal hypophosphatasia True False False +Orphanet:247638 Prenatal benign hypophosphatasia True False False +Orphanet:247651 Infantile hypophosphatasia True False False +Orphanet:247667 Childhood-onset hypophosphatasia True False False +Orphanet:247676 Adult hypophosphatasia True False False +Orphanet:247685 Odontohypophosphatasia True False False +Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations True False False +Orphanet:247698 Multiple endocrine neoplasia type 2A True False False +Orphanet:2477 Megalencephaly True False False +Orphanet:247709 Multiple endocrine neoplasia type 2B True False False +Orphanet:247718 Inflammatory myopathy with abundant macrophages True False False +Orphanet:247724 Idiopathic eosinophilic myositis True False False +Orphanet:247762 Lipoblastoma True False False +Orphanet:247765 X-linked cerebellar ataxia True False False +Orphanet:247768 Müllerian aplasia and hyperandrogenism True False False +Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 True False False +Orphanet:247790 FTH1-related iron overload True False False +Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome True False False +Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis True False False +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts True False False +Orphanet:247806 APC-related attenuated familial adenomatous polyposis True False False +Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency True False False +Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome True False False +Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome True False False +Orphanet:247834 Occult macular dystrophy True False False +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome True False False +Orphanet:2479 Megalocornea-intellectual disability syndrome True False False +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia True False False +Orphanet:248095 Primary hypertrophic osteoarthropathy True False False +Orphanet:2481 Neurocutaneous melanocytosis True False False +Orphanet:248111 Juvenile Huntington disease True False False +Orphanet:2482 Melhem-Fahl syndrome True False False +Orphanet:248293 Rare deficiency anemia True False False +Orphanet:248296 Constitutional deficiency anemia True False False +Orphanet:2483 Melkersson-Rosenthal syndrome True False False +Orphanet:248302 Rare acquired deficiency anemia True False False +Orphanet:248308 Rare hemorrhagic disorder True False False +Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect True False False +Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly True False False +Orphanet:248340 Isolated delta-storage pool disease True False False +Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly True False False +Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect True False False +Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect True False False +Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect True False False +Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly True False False +Orphanet:2484 Melnick-Needles syndrome True False False +Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly True False False +Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly True False False +Orphanet:248408 Familial hypodysfibrinogenemia True False False +Orphanet:2485 Melorheostosis True False False +Orphanet:2487 Lower limb malformation-hypospadias syndrome True False False +Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome True False False +Orphanet:249 Fibrous dysplasia of bone True False False +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome True False False +Orphanet:2492 FATCO syndrome True False False +Orphanet:2494 Ménétrier disease True False False +Orphanet:2495 Meningioma True False False +Orphanet:2496 Mesomelia-synostoses syndrome True False False +Orphanet:2497 Upper limb mesomelic dysplasia True False False +Orphanet:2498 Syndactyly type 8 True False False +Orphanet:2499 Metachondromatosis True False False +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency True False False +Orphanet:250 Frontonasal dysplasia True False False +Orphanet:2500 Acrogeria True False False +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type True False False +Orphanet:250165 Genetic polycythemia True False False +Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome True False False +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome True False False +Orphanet:2505 Multiple benign circumferential skin creases on limbs True False False +Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome True False False +Orphanet:250805 Serpinopathy True False False +Orphanet:250808 Serpinopathy with toxic serpin polymerization True False False +Orphanet:250811 Serpinopathy with loss of serpin function True False False +Orphanet:250831 Logopenic progressive aphasia True False False +Orphanet:250908 Rare neoplastic disease True False False +Orphanet:250923 Isolated aniridia True False False +Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy True False False +Orphanet:250972 Polymicrogyria with optic nerve hypoplasia True False False +Orphanet:250977 AICA-ribosiduria True False False +Orphanet:250984 Autosomal recessive Stickler syndrome True False False +Orphanet:250989 1q21.1 microdeletion syndrome True False False +Orphanet:250994 1q21.1 microduplication syndrome True False False +Orphanet:250999 1q41q42 microdeletion syndrome True False False +Orphanet:251 Multiple epiphyseal dysplasia True False False +Orphanet:2510 Micro syndrome True False False +Orphanet:251004 Paternal uniparental disomy of chromosome 1 True False False +Orphanet:251009 Maternal uniparental disomy of chromosome 1 True False False +Orphanet:251014 2q31.1 microdeletion syndrome True False False +Orphanet:251019 2q32q33 microdeletion syndrome True False False +Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement True False False +Orphanet:251038 3q29 microduplication syndrome True False False +Orphanet:251043 Ring chromosome 5 syndrome True False False +Orphanet:251046 6p22 microdeletion syndrome True False False +Orphanet:251056 6q25 microdeletion syndrome True False False +Orphanet:251061 7q31 microdeletion syndrome True False False +Orphanet:251066 8p11.2 deletion syndrome True False False +Orphanet:251071 8p23.1 microdeletion syndrome True False False +Orphanet:251076 8p23.1 duplication syndrome True False False +Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome True False False +Orphanet:2512 Autosomal recessive primary microcephaly True False False +Orphanet:251262 Familial osteochondritis dissecans True False False +Orphanet:251274 Familial hyperaldosteronism type III True False False +Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome True False False +Orphanet:251282 Autosomal dominant spastic ataxia type 1 True False False +Orphanet:251287 Benign concentric annular macular dystrophy True False False +Orphanet:251290 Parietal foramina with clavicular hypoplasia True False False +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy True False False +Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome True False False +Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis True False False +Orphanet:251307 Idiopathic recurrent pericarditis True False False +Orphanet:251312 Overlapping connective tissue disease True False False +Orphanet:251325 Drug-induced vasculitis True False False +Orphanet:251328 Unclassified vasculitis True False False +Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome True False False +Orphanet:251347 Ataxia-telangiectasia-like disorder True False False +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome True False False +Orphanet:251365 Sickle cell-hemoglobin C disease syndrome True False False +Orphanet:251370 Sickle cell-hemoglobin D disease syndrome True False False +Orphanet:251375 Sickle cell-hemoglobin E disease syndrome True False False +Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome True False False +Orphanet:251383 CK syndrome True False False +Orphanet:251393 Localized junctional epidermolysis bullosa True False False +Orphanet:2514 Autosomal dominant primary microcephaly True False False +Orphanet:2515 Microcephaly-cardiomyopathy syndrome True False False +Orphanet:251510 46,XY partial gonadal dysgenesis True False False +Orphanet:251515 Distal arthrogryposis type 10 True False False +Orphanet:251523 Hyperzincemia and hypercalprotectinemia True False False +Orphanet:251529 Toxic or drug-related embryofetopathy True False False +Orphanet:251535 Maternal disease-related embryofetopathy True False False +Orphanet:251558 Rare tumor of neuroepithelial tissue True False False +Orphanet:251561 High-grade astrocytoma True False False +Orphanet:251576 Gliosarcoma True False False +Orphanet:251579 Giant cell glioblastoma True False False +Orphanet:251582 Gliomatosis cerebri True False False +Orphanet:251589 Anaplastic astrocytoma True False False +Orphanet:251592 Low-grade astrocytoma True False False +Orphanet:251595 Diffuse astrocytoma True False False +Orphanet:251598 Protoplasmic astrocytoma True False False +Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome True False False +Orphanet:251601 Fibrillary astrocytoma True False False +Orphanet:251604 Gemistocytic astrocytoma True False False +Orphanet:251607 Pleomorphic xanthoastrocytoma True False False +Orphanet:251612 Pilocytic astrocytoma True False False +Orphanet:251615 Pilomyxoid astrocytoma True False False +Orphanet:251618 Subependymal giant cell astrocytoma True False False +Orphanet:251623 Pituicytoma True False False +Orphanet:251627 Oligodendroglioma True False False +Orphanet:251630 Anaplastic oligodendroglioma True False False +Orphanet:251636 Ependymoma True False False +Orphanet:251639 Subependymoma True False False +Orphanet:251643 Myxopapillary ependymoma True False False +Orphanet:251646 Anaplastic ependymoma True False False +Orphanet:251651 Oligoastrocytic tumor True False False +Orphanet:251656 Oligoastrocytoma True False False +Orphanet:251663 Anaplastic oligoastrocytoma True False False +Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin True False False +Orphanet:251671 Angiocentric glioma True False False +Orphanet:251674 Chordoid glioma True False False +Orphanet:251679 Astroblastoma True False False +Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome True False False +Orphanet:251852 Embryonal tumor of neuroepithelial tissue True False False +Orphanet:251855 Anaplastic/large cell medulloblastoma True False False +Orphanet:251858 Medulloblastoma with extensive nodularity True False False +Orphanet:251863 Desmoplastic/nodular medulloblastoma True False False +Orphanet:251867 Classic medulloblastoma True False False +Orphanet:251870 Central nervous system embryonal tumor True False False +Orphanet:251877 Ganglioneuroblastoma True False False +Orphanet:251896 Choroid plexus tumor True False False +Orphanet:251899 Choroid plexus carcinoma True False False +Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome True False False +Orphanet:251902 Atypical papilloma of choroid plexus True False False +Orphanet:251905 Pineal tumor of neuroepithelial tissue True False False +Orphanet:251909 Pineoblastoma True False False +Orphanet:251912 Pineocytoma True False False +Orphanet:251915 Papillary tumor of the pineal region True False False +Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation True False False +Orphanet:251924 Neuronal tumor True False False +Orphanet:251927 Extraventricular neurocytoma True False False +Orphanet:251931 Cerebellar liponeurocytoma True False False +Orphanet:251934 Mixed neuronal-glial tumor True False False +Orphanet:251937 Gangliocytoma True False False +Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma True False False +Orphanet:251946 Dysembryoplastic neuroepithelial tumor True False False +Orphanet:251949 Ganglioglioma True False False +Orphanet:251957 Anaplastic ganglioglioma True False False +Orphanet:251962 Papillary glioneuronal tumor True False False +Orphanet:251975 Rosette-forming glioneuronal tumor True False False +Orphanet:251992 Ganglioneuroma True False False +Orphanet:252006 Yolk sac tumor of central nervous system True False False +Orphanet:252015 Choriocarcinoma of the central nervous system True False False +Orphanet:252018 Teratoma of the central nervous system True False False +Orphanet:252021 Mixed germ cell tumor of central nervous system True False False +Orphanet:252025 Tumor of meninges True False False +Orphanet:252028 Primary melanocytic tumor of central nervous system True False False +Orphanet:252031 Diffuse leptomeningeal melanocytosis True False False +Orphanet:252046 Meningeal melanocytoma True False False +Orphanet:252050 Primary melanoma of the central nervous system True False False +Orphanet:252054 Hemangioblastoma True False False +Orphanet:252057 Tumor of cranial and spinal nerves True False False +Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome True False False +Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation True False False +Orphanet:252131 Benign peripheral nerve sheath tumor True False False +Orphanet:252164 Benign schwannoma True False False +Orphanet:252175 Vestibular schwannoma True False False +Orphanet:252183 Neurofibroma True False False +Orphanet:252190 Inherited nervous system cancer-predisposing syndrome True False False +Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome True False False +Orphanet:252202 Constitutional mismatch repair deficiency syndrome True False False +Orphanet:252206 Melanoma and neural system tumor syndrome True False False +Orphanet:252212 Malignant triton tumor True False False +Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome True False False +Orphanet:2524 Pontocerebellar hypoplasia type 2 True False False +Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome True False False +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type True False False +Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome True False False +Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome True False False +Orphanet:2538 Microgastria-limb reduction defect syndrome True False False +Orphanet:254 Spondylometaphyseal dysplasia True False False +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B True False False +Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome True False False +Orphanet:254346 19p13.12 microdeletion syndrome True False False +Orphanet:254351 Distal 7q11.23 microdeletion syndrome True False False +Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 True False False +Orphanet:254367 Rare lichen planus True False False +Orphanet:254370 Rare cutaneous lichen planus True False False +Orphanet:254373 Rare mucosal lichen planus True False False +Orphanet:254379 Linear lichen planus True False False +Orphanet:254395 Actinic lichen planus True False False +Orphanet:254411 Annular atrophic lichen planus True False False +Orphanet:254424 Annular lichen planus True False False +Orphanet:254449 Atrophic lichen planus True False False +Orphanet:254463 Lichen planus pigmentosus True False False +Orphanet:254478 Lichen planus pemphigoides True False False +Orphanet:254492 Frontal fibrosing alopecia True False False +Orphanet:254504 Inhalational botulism True False False +Orphanet:254509 Iatrogenic botulism True False False +Orphanet:254516 Temple syndrome True False False +Orphanet:254519 Kagami-Ogata syndrome True False False +Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion True False False +Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion True False False +Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation True False False +Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation True False False +Orphanet:254685 Gestational trophoblastic disease True False False +Orphanet:254688 Complete hydatidiform mole True False False +Orphanet:254693 Partial hydatidiform mole True False False +Orphanet:254698 Epithelioid trophoblastic tumor True False False +Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome True False False +Orphanet:254704 Genetic hyperferritinemia without iron overload True False False +Orphanet:254746 Pyruvate metabolism disorder True False False +Orphanet:254749 Tricarboxylic acid cycle disorder True False False +Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies True False False +Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA True False False +Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA True False False +Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy True False False +Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form True False False +Orphanet:254807 Multiple mitochondrial DNA deletion syndrome True False False +Orphanet:254818 Ataxia neuropathy spectrum True False False +Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism True False False +Orphanet:254827 Mitochondrial membrane transport disorder True False False +Orphanet:254830 Mitochondrial substrate carrier disorder True False False +Orphanet:254834 Mitochondrial protein import disorder True False False +Orphanet:254837 Unspecified mitochondrial disorder True False False +Orphanet:254843 Exercise intolerance with lactic acidosis True False False +Orphanet:254846 Isolated oxidative phosphorylation complex disorder True False False +Orphanet:254851 Mitochondrial DNA-related dystonia True False False +Orphanet:254854 Pure mitochondrial myopathy True False False +Orphanet:254857 Lethal infantile mitochondrial myopathy True False False +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency True False False +Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form True False False +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form True False False +Orphanet:254881 Spinocerebellar ataxia with epilepsy True False False +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia True False False +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia True False False +Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome True False False +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects True False False +Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome True False False +Orphanet:254905 Isolated cytochrome C oxidase deficiency True False False +Orphanet:254913 Isolated ATP synthase deficiency True False False +Orphanet:254920 Combined oxidative phosphorylation defect type 2 True False False +Orphanet:254925 Combined oxidative phosphorylation defect type 4 True False False +Orphanet:254930 Combined oxidative phosphorylation defect type 7 True False False +Orphanet:255 Dopa-responsive dystonia True False False +Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome True False False +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia True False False +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency True False False +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency True False False +Orphanet:2552 Microsporidiosis True False False +Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome True False False +Orphanet:255229 Navajo neurohepatopathy True False False +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy True False False +Orphanet:2554 Ear-patella-short stature syndrome True False False +Orphanet:2556 Microphthalmia with linear skin defects syndrome True False False +Orphanet:2557 Mietens syndrome True False False +Orphanet:2558 Mikati-Najjar-Sahli syndrome True False False +Orphanet:256 Early-onset generalized limb-onset dystonia True False False +Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome True False False +Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome True False False +Orphanet:2563 MOMO syndrome True False False +Orphanet:2564 Tetramelic monodactyly True False False +Orphanet:2565 Mononen-Karnes-Senac syndrome True False False +Orphanet:2566 Chronic Epstein-Barr virus infection syndrome True False False +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy True False False +Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome True False False +Orphanet:2571 X-linked immunoneurologic disorder True False False +Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome True False False +Orphanet:2573 Moyamoya disease True False False +Orphanet:2574 Moynahan syndrome True False False +Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome True False False +Orphanet:2576 Mulibrey nanism True False False +Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 True False False +Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome True False False +Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy True False False +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan True False False +Orphanet:2583 Mycetoma True False False +Orphanet:2584 Classic mycosis fungoides True False False +Orphanet:2585 Ataxia-pancytopenia syndrome True False False +Orphanet:2587 Myeloperoxidase deficiency True False False +Orphanet:2588 Myhre syndrome True False False +Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome True False False +Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome True False False +Orphanet:2591 Infantile myofibromatosis True False False +Orphanet:2593 Tubular aggregate myopathy True False False +Orphanet:2596 Myopathy and diabetes mellitus True False False +Orphanet:25968 Benign occipital epilepsy True False False +Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome True False False +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia True False False +Orphanet:25980 X-linked myopathy with excessive autophagy True False False +Orphanet:26 Methylmalonic acidemia with homocystinuria True False False +Orphanet:260305 Autosomal recessive sideroblastic anemia True False False +Orphanet:2604 Familial visceral myopathy True False False +Orphanet:2608 N syndrome True False False +Orphanet:2609 Isolated complex I deficiency True False False +Orphanet:261 Emery-Dreifuss muscular dystrophy True False False +Orphanet:26106 Hereditary diffuse gastric cancer True False False +Orphanet:2611 Linear verrucous nevus syndrome True False False +Orphanet:261102 Distal 7q11.23 microduplication syndrome True False False +Orphanet:261112 Monosomy 9p True False False +Orphanet:261120 14q11.2 microdeletion syndrome True False False +Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion True False False +Orphanet:261183 15q11.2 microdeletion syndrome True False False +Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion True False False +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome True False False +Orphanet:2612 Linear nevus sebaceus syndrome True False False +Orphanet:261204 16p11.2p12.2 microduplication syndrome True False False +Orphanet:261211 16p11.2p12.2 microdeletion syndrome True False False +Orphanet:261222 Distal 16p11.2 microdeletion syndrome True False False +Orphanet:261229 14q11.2 microduplication syndrome True False False +Orphanet:261236 16p13.11 microdeletion syndrome True False False +Orphanet:261243 16p13.11 microduplication syndrome True False False +Orphanet:261250 16q24.3 microdeletion syndrome True False False +Orphanet:261257 Distal 17p13.3 microdeletion syndrome True False False +Orphanet:261265 17q12 microdeletion syndrome True False False +Orphanet:261272 17q12 microduplication syndrome True False False +Orphanet:261279 17q23.1q23.2 microdeletion syndrome True False False +Orphanet:261290 Trisomy 17p True False False +Orphanet:261295 20p12.3 microdeletion syndrome True False False +Orphanet:2613 Nail-patella-like renal disease True False False +Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome True False False +Orphanet:261311 20q13.33 microdeletion syndrome True False False +Orphanet:261318 Trisomy 20p True False False +Orphanet:261323 21q22.11q22.12 microdeletion syndrome True False False +Orphanet:261330 Distal 22q11.2 microdeletion syndrome True False False +Orphanet:261337 Distal 22q11.2 microduplication syndrome True False False +Orphanet:261344 Trisomy 1q True False False +Orphanet:261349 2p15p16.1 microdeletion syndrome True False False +Orphanet:26137 Juvenile temporal arteritis True False False +Orphanet:2614 Nail-patella syndrome True False False +Orphanet:261476 Xp21 deletion syndrome True False False +Orphanet:261483 Xq27.3q28 duplication syndrome True False False +Orphanet:261494 Kleefstra syndrome True False False +Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion True False False +Orphanet:261519 Maternal uniparental disomy of chromosome X True False False +Orphanet:261524 Paternal uniparental disomy of chromosome X True False False +Orphanet:261529 Ring chromosome Y syndrome True False False +Orphanet:261534 49,XXXYY syndrome True False False +Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 True False False +Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation True False False +Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion True False False +Orphanet:2616 3M syndrome True False False +Orphanet:261600 Alagille syndrome due to 20p12 microdeletion True False False +Orphanet:261619 Alagille syndrome due to a JAG1 point mutation True False False +Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation True False False +Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion True False False +Orphanet:261647 Okihiro syndrome due to a point mutation True False False +Orphanet:261652 Kleefstra syndrome due to a point mutation True False False +Orphanet:2617 Microcephalic primordial dwarfism, Montreal type True False False +Orphanet:261766 Partial deletion of chromosome 1 True False False +Orphanet:261771 Partial deletion of chromosome 2 True False False +Orphanet:261776 Partial deletion of chromosome 3 True False False +Orphanet:261781 Partial deletion of chromosome 4 True False False +Orphanet:261786 Partial deletion of chromosome 5 True False False +Orphanet:261791 Partial deletion of chromosome 6 True False False +Orphanet:261796 Partial deletion of chromosome 7 True False False +Orphanet:261801 Partial deletion of chromosome 8 True False False +Orphanet:261806 Partial deletion of chromosome 9 True False False +Orphanet:261811 Partial deletion of chromosome 10 True False False +Orphanet:261816 Partial deletion of chromosome 11 True False False +Orphanet:261821 Partial deletion of the long arm of chromosome 12 True False False +Orphanet:261826 Partial deletion of chromosome 16 True False False +Orphanet:261831 Partial deletion of chromosome 17 True False False +Orphanet:261836 Partial deletion of chromosome 18 True False False +Orphanet:261841 Partial deletion of chromosome 19 True False False +Orphanet:261846 Partial deletion of chromosome 20 True False False +Orphanet:261857 Partial deletion of the short arm of chromosome 1 True False False +Orphanet:261866 Partial deletion of the short arm of chromosome 2 True False False +Orphanet:261875 Partial deletion of the short arm of chromosome 3 True False False +Orphanet:261884 Partial deletion of the short arm of chromosome 4 True False False +Orphanet:261893 Partial deletion of the short arm of chromosome 5 True False False +Orphanet:2619 Brachydactylous dwarfism, Mseleni type True False False +Orphanet:261902 Partial deletion of the short arm of chromosome 6 True False False +Orphanet:261911 Partial deletion of the short arm of chromosome 7 True False False +Orphanet:261920 Partial deletion of the short arm of chromosome 8 True False False +Orphanet:261929 Partial deletion of the short arm of chromosome 9 True False False +Orphanet:261938 Partial deletion of the short arm of chromosome 10 True False False +Orphanet:261947 Partial deletion of the short arm of chromosome 11 True False False +Orphanet:261956 Partial deletion of the short arm of chromosome 16 True False False +Orphanet:261965 Partial deletion of the short arm of chromosome 17 True False False +Orphanet:261974 Partial deletion of the short arm of chromosome 18 True False False +Orphanet:261983 Partial deletion of the short arm of chromosome 19 True False False +Orphanet:261992 Partial deletion of the short arm of chromosome 20 True False False +Orphanet:262001 Partial deletion of the long arm of chromosome 1 True False False +Orphanet:262010 Partial deletion of the long arm of chromosome 2 True False False +Orphanet:262019 Partial deletion of the long arm of chromosome 3 True False False +Orphanet:262029 Partial deletion of the long arm of chromosome 4 True False False +Orphanet:262038 Partial deletion of the long arm of chromosome 5 True False False +Orphanet:262047 Partial deletion of the long arm of chromosome 6 True False False +Orphanet:262056 Partial deletion of the long arm of chromosome 7 True False False +Orphanet:262065 Partial deletion of the long arm of chromosome 8 True False False +Orphanet:262074 Partial deletion of the long arm of chromosome 9 True False False +Orphanet:262083 Partial deletion of the long arm of chromosome 10 True False False +Orphanet:262092 Partial deletion of the long arm of chromosome 11 True False False +Orphanet:262101 Partial deletion of the long arm of chromosome 13 True False False +Orphanet:262110 Partial deletion of the long arm of chromosome 14 True False False +Orphanet:262119 Partial deletion of the long arm of chromosome 15 True False False +Orphanet:262128 Partial deletion of the long arm of chromosome 16 True False False +Orphanet:262137 Partial deletion of the long arm of chromosome 17 True False False +Orphanet:262146 Partial deletion of the long arm of chromosome 18 True False False +Orphanet:262155 Partial deletion of the long arm of chromosome 19 True False False +Orphanet:262164 Partial deletion of the long arm of chromosome 20 True False False +Orphanet:262173 Partial deletion of the long arm of chromosome 21 True False False +Orphanet:262182 Partial deletion of the long arm of chromosome 22 True False False +Orphanet:262191 Partial duplication of chromosome 1 True False False +Orphanet:262196 Partial duplication of chromosome 2 True False False +Orphanet:262201 Partial duplication of chromosome 3 True False False +Orphanet:262206 Partial duplication of chromosome 4 True False False +Orphanet:262211 Partial duplication/triplication of chromosome 5 True False False +Orphanet:2623 Geleophysic dysplasia True False False +Orphanet:262628 Partial duplication of chromosome 6 True False False +Orphanet:262633 Partial duplication of chromosome 7 True False False +Orphanet:262638 Partial duplication of chromosome 8 True False False +Orphanet:262643 Partial duplication/triplication of chromosome 9 True False False +Orphanet:262648 Partial duplication of chromosome 10 True False False +Orphanet:262653 Partial duplication of chromosome 11 True False False +Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 True False False +Orphanet:262672 Partial duplication of chromosome 16 True False False +Orphanet:262677 Partial duplication of chromosome 17 True False False +Orphanet:262682 Partial duplication/triplication of chromosome 18 True False False +Orphanet:262687 Partial duplication of chromosome 19 True False False +Orphanet:262692 Partial duplication of chromosome 20 True False False +Orphanet:262698 Partial duplication of the short arm of chromosome 2 True False False +Orphanet:262707 Partial duplication of the short arm of chromosome 3 True False False +Orphanet:262716 Partial duplication of the short arm of chromosome 4 True False False +Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 True False False +Orphanet:262740 Partial duplication of the short arm of chromosome 6 True False False +Orphanet:262749 Partial duplication of the short arm of chromosome 7 True False False +Orphanet:262758 Partial duplication of the short arm of chromosome 8 True False False +Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 True False False +Orphanet:262776 Partial duplication of the short arm of chromosome 10 True False False +Orphanet:262785 Partial duplication of the short arm of chromosome 11 True False False +Orphanet:262794 Partial duplication of the short arm of chromosome 16 True False False +Orphanet:262803 Partial duplication of the short arm of chromosome 17 True False False +Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 True False False +Orphanet:262833 Partial duplication of the long arm of chromosome 1 True False False +Orphanet:262842 Partial duplication of the long arm of chromosome 2 True False False +Orphanet:262851 Partial duplication of the long arm of chromosome 3 True False False +Orphanet:262860 Partial duplication of the long arm of chromosome 4 True False False +Orphanet:262869 Partial duplication of the long arm of chromosome 5 True False False +Orphanet:262878 Partial duplication of the long arm of chromosome 6 True False False +Orphanet:262887 Partial duplication of the long arm of chromosome 7 True False False +Orphanet:262896 Partial duplication of the long arm of chromosome 8 True False False +Orphanet:262905 Partial duplication of the long arm of chromosome 9 True False False +Orphanet:262914 Partial duplication of the long arm of chromosome 10 True False False +Orphanet:262923 Partial duplication of the long arm of chromosome 11 True False False +Orphanet:262932 Partial duplication of the long arm of chromosome 13 True False False +Orphanet:262941 Partial duplication of the long arm of chromosome 14 True False False +Orphanet:262950 Partial duplication of the long arm of chromosome 15 True False False +Orphanet:262959 Partial duplication of the long arm of chromosome 16 True False False +Orphanet:262968 Partial duplication of the long arm of chromosome 17 True False False +Orphanet:262977 Partial duplication of the long arm of chromosome 18 True False False +Orphanet:262986 Partial duplication of the long arm of chromosome 19 True False False +Orphanet:262995 Partial duplication of the long arm of chromosome 20 True False False +Orphanet:263 Limb-girdle muscular dystrophy True False False +Orphanet:263004 Partial duplication of the long arm of chromosome 22 True False False +Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome True False False +Orphanet:2632 Langer mesomelic dysplasia True False False +Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency True False False +Orphanet:2633 Mesomelic dysplasia, Nievergelt type True False False +Orphanet:263310 Thymoma type A True False False +Orphanet:263317 Thymoma type B True False False +Orphanet:263324 Thymoma type AB True False False +Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma True False False +Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma True False False +Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma True False False +Orphanet:263347 MRCS syndrome True False False +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type True False False +Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome True False False +Orphanet:263413 Angiosarcoma True False False +Orphanet:263425 Nevus of Ota True False False +Orphanet:263432 Nevus of Ito True False False +Orphanet:263435 Congenital smooth muscle hamartoma True False False +Orphanet:263440 Neuroacanthocytosis True False False +Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency True False False +Orphanet:263458 Hyperinsulinism due to INSR deficiency True False False +Orphanet:263463 CHST3-related skeletal dysplasia True False False +Orphanet:263479 Fuchs heterochromic iridocyclitis True False False +Orphanet:26348 Acquired prothrombin deficiency True False False +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type True False False +Orphanet:263487 COG5-CDG True False False +Orphanet:26349 Protein S acquired deficiency True False False +Orphanet:263494 DPM3-CDG True False False +Orphanet:2635 Metatropic dysplasia True False False +Orphanet:263501 COG4-CDG True False False +Orphanet:263508 COG1-CDG True False False +Orphanet:263516 Progressive myoclonic epilepsy type 3 True False False +Orphanet:263524 Acute necrotizing encephalopathy of childhood True False False +Orphanet:263534 Acral peeling skin syndrome True False False +Orphanet:263543 Generalized peeling skin syndrome True False False +Orphanet:263548 Peeling skin syndrome type A True False False +Orphanet:263553 Peeling skin syndrome type B True False False +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III True False False +Orphanet:263662 Familial multiple meningioma True False False +Orphanet:263665 NK-cell enteropathy True False False +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II True False False +Orphanet:263708 Complex chromosomal rearrangement True False False +Orphanet:263714 X chromosome number anomaly True False False +Orphanet:263717 X chromosome number anomaly with female phenotype True False False +Orphanet:263720 X chromosome number anomaly with male phenotype True False False +Orphanet:263723 Polysomy of X chromosome True False False +Orphanet:263726 Partial deletion of chromosome X True False False +Orphanet:263731 Partial deletion of the short arm of the chromosome X True False False +Orphanet:263746 Y chromosome number anomaly True False False +Orphanet:263749 X and Y chromosomal anomaly True False False +Orphanet:263756 Partial deletion of the long arm of chromosome X True False False +Orphanet:263768 Partial duplication of chromosome X True False False +Orphanet:263775 Partial duplication of the short arm of chromosome X True False False +Orphanet:263783 Partial duplication of the long arm of chromosome X True False False +Orphanet:263793 Uniparental disomy of chromosome X True False False +Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome True False False +Orphanet:264200 14q22q23 microdeletion syndrome True False False +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type True False False +Orphanet:264431 Partial duplication of the short arm of chromosome 1 True False False +Orphanet:264450 Trisomy 8p True False False +Orphanet:2645 Osteoglosphonic dysplasia True False False +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency True False False +Orphanet:2646 Parastremmatic dwarfism True False False +Orphanet:264675 Hereditary pulmonary alveolar proteinosis True False False +Orphanet:264688 Congenital chylothorax True False False +Orphanet:264691 Isolated pulmonary capillaritis True False False +Orphanet:264978 Drug or radiation exposure-related interstitial lung disease True False False +Orphanet:264992 Genetic interstitial lung disease True False False +Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome True False False +Orphanet:2655 Thanatophoric dysplasia True False False +Orphanet:2658 Lenz-Majewski hyperostotic dwarfism True False False +Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A True False False +Orphanet:2662 Keipert syndrome True False False +Orphanet:2663 Nathalie syndrome True False False +Orphanet:2665 Congenital mesoblastic nephroma True False False +Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome True False False +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome True False False +Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome True False False +Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 True False False +Orphanet:2670 Pierson syndrome True False False +Orphanet:2671 Neu-Laxova syndrome True False False +Orphanet:2672 Neuhauser-Eichner-Opitz syndrome True False False +Orphanet:2673 Neurofaciodigitorenal syndrome True False False +Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome True False False +Orphanet:2678 Familial isolated café-au-lait macules True False False +Orphanet:26790 Pseudomyxoma peritonei True False False +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency True False False +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency True False False +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency True False False +Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 True False False +Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome True False False +Orphanet:268114 RAS-associated autoimmune leukoproliferative disease True False False +Orphanet:268129 Spheroid body myopathy True False False +Orphanet:268139 Intraocular medulloepithelioma True False False +Orphanet:268145 Classic maple syrup urine disease True False False +Orphanet:268162 Intermediate maple syrup urine disease True False False +Orphanet:268173 Intermittent maple syrup urine disease True False False +Orphanet:268184 Thiamine-responsive maple syrup urine disease True False False +Orphanet:268249 Mycophenolate mofetil embryopathy True False False +Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion True False False +Orphanet:268322 Hereditary thrombocytopenia with normal platelets True False False +Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease True False False +Orphanet:268357 Neural tube closure defect True False False +Orphanet:268363 Open iniencephaly True False False +Orphanet:268366 Closed iniencephaly True False False +Orphanet:268369 Open spinal dysraphism True False False +Orphanet:2686 Cyclic neutropenia True False False +Orphanet:268744 Spinal dysraphism with a posterior meningocele True False False +Orphanet:2688 Adult idiopathic neutropenia True False False +Orphanet:268810 Isolated posterior meningocele True False False +Orphanet:268813 Myelocystocele True False False +Orphanet:268817 Cephalocele True False False +Orphanet:268820 Cranial meningocele True False False +Orphanet:268823 Occipital encephalocele True False False +Orphanet:268826 Parietal encephalocele True False False +Orphanet:268829 Basal encephalocele True False False +Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column True False False +Orphanet:268861 Primary tethered cord syndrome True False False +Orphanet:268865 Neurenteric cyst True False False +Orphanet:268868 Isolated amyelia True False False +Orphanet:268882 Arnold-Chiari malformation type I True False False +Orphanet:268920 Isolated megalencephaly True False False +Orphanet:268926 Midline cerebral malformation True False False +Orphanet:268936 Isolated arhinencephaly True False False +Orphanet:268940 Bilateral polymicrogyria True False False +Orphanet:268943 Unilateral polymicrogyria True False False +Orphanet:268947 Unilateral focal polymicrogyria True False False +Orphanet:268950 Cerebral cortical dysplasia True False False +Orphanet:268961 Isolated focal cortical dysplasia type I True False False +Orphanet:268973 Isolated focal cortical dysplasia type Ia True False False +Orphanet:268980 Isolated focal cortical dysplasia type Ib True False False +Orphanet:268987 Isolated focal cortical dysplasia type Ic True False False +Orphanet:268994 Isolated focal cortical dysplasia type II True False False +Orphanet:269 Facioscapulohumeral dystrophy True False False +Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome True False False +Orphanet:269001 Isolated focal cortical dysplasia type IIa True False False +Orphanet:269008 Isolated focal cortical dysplasia type IIb True False False +Orphanet:269190 Encephaloclastic disorder True False False +Orphanet:269194 Central nervous system cystic malformation True False False +Orphanet:269197 Glioependymal/ependymal cyst True False False +Orphanet:269203 Isolated cerebellar vermis agenesis True False False +Orphanet:269206 Isolated total cerebellar vermis agenesis True False False +Orphanet:269209 Isolated partial cerebellar vermis agenesis True False False +Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus True False False +Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus True False False +Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia True False False +Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia True False False +Orphanet:269224 Global cerebellar malformation True False False +Orphanet:269229 Pontine tegmental cap dysplasia True False False +Orphanet:2695 Bifid nose True False False +Orphanet:269505 Congenital communicating hydrocephalus True False False +Orphanet:269510 Congenital non-communicating hydrocephalus True False False +Orphanet:269523 Syndrome with a cerebellar malformation as a major feature True False False +Orphanet:269528 Syndrome with microcephaly as a major feature True False False +Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature True False False +Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature True False False +Orphanet:269553 Genetic cerebral malformation True False False +Orphanet:269557 Genetic posterior fossa malformation True False False +Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature True False False +Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome True False False +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome True False False +Orphanet:2699 Median nodule of the upper lip True False False +Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia True False False +Orphanet:270 Oculopharyngeal muscular dystrophy True False False +Orphanet:2700 Noma True False False +Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair True False False +Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome True False False +Orphanet:2704 Ochoa syndrome True False False +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type True False False +Orphanet:2709 Oculodental syndrome, Rutherfurd type True False False +Orphanet:2710 Oculodentodigital dysplasia True False False +Orphanet:2712 Oculofaciocardiodental syndrome True False False +Orphanet:2713 Oculoosteocutaneous syndrome True False False +Orphanet:2714 Oculo-palato-cerebral syndrome True False False +Orphanet:2715 Severe oculo-renal-cerebellar syndrome True False False +Orphanet:2717 Oculotrichoanal syndrome True False False +Orphanet:2718 Oculotrichodysplasia True False False +Orphanet:271832 Genetic soft tissue tumor True False False +Orphanet:271835 Genetic digestive tract tumor True False False +Orphanet:271841 Genetic cardiac tumor True False False +Orphanet:271844 Genetic urogenital tumor True False False +Orphanet:271847 Genetic neuroendocrine tumor True False False +Orphanet:271853 Genetic cardiac anomaly True False False +Orphanet:271870 Rare genetic systemic or rheumatologic disease True False False +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type True False False +Orphanet:272 Congenital muscular dystrophy, Fukuyama type True False False +Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type True False False +Orphanet:2721 Odonto-onycho-dermal dysplasia True False False +Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome True False False +Orphanet:2723 Odontotrichomelic syndrome True False False +Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome True False False +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type True False False +Orphanet:273 Steinert myotonic dystrophy True False False +Orphanet:2730 Postaxial tetramelic oligodactyly True False False +Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome True False False +Orphanet:2733 Omodysplasia True False False +Orphanet:2736 Lethal omphalocele-cleft palate syndrome True False False +Orphanet:2737 Onchocerciasis True False False +Orphanet:274 Bernard-Soulier syndrome True False False +Orphanet:2741 Ophthalmomandibulomelic dysplasia True False False +Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome True False False +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis True False False +Orphanet:2745 Opitz GBBB syndrome True False False +Orphanet:2746 Opsismodysplasia True False False +Orphanet:2749 Oromandibular-limb hypogenesis syndrome True False False +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency True False False +Orphanet:2750 Orofaciodigital syndrome type 1 True False False +Orphanet:2751 Orofaciodigital syndrome type 2 True False False +Orphanet:2752 Orofaciodigital syndrome type 3 True False False +Orphanet:2753 Orofaciodigital syndrome type 4 True False False +Orphanet:2754 Orofaciodigital syndrome type 6 True False False +Orphanet:2755 Orofaciodigital syndrome type 8 True False False +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections True False False +Orphanet:275523 Dianzani autoimmune lymphoproliferative disease True False False +Orphanet:275543 L1 syndrome True False False +Orphanet:275555 Preeclampsia True False False +Orphanet:2756 Orofaciodigital syndrome type 10 True False False +Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia True False False +Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect True False False +Orphanet:275742 Genetic infertility True False False +Orphanet:275761 Lysosomal acid lipase deficiency True False False +Orphanet:275766 Idiopathic pulmonary arterial hypertension True False False +Orphanet:275777 Heritable pulmonary arterial hypertension True False False +Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia True False False +Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism True False False +Orphanet:275853 Syndrome with pulmonary hypertension as a major feature True False False +Orphanet:275864 Behavioral variant of frontotemporal dementia True False False +Orphanet:275872 Frontotemporal dementia with motor neuron disease True False False +Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome True False False +Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization True False False +Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization True False False +Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency True False False +Orphanet:2760 OSLAM syndrome True False False +Orphanet:276058 Genetic neurodegenerative disease with dementia True False False +Orphanet:276061 Genetic frontotemporal degeneration with dementia True False False +Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation True False False +Orphanet:276142 Rare tumor of salivary glands True False False +Orphanet:276145 Malignant epithelial tumor of salivary glands True False False +Orphanet:276148 Benign epithelial tumor of salivary glands True False False +Orphanet:276152 Multiple endocrine neoplasia type 4 True False False +Orphanet:276161 Multiple endocrine neoplasia True False False +Orphanet:276174 Idiopathic recurrent stupor True False False +Orphanet:276183 Spinocerebellar ataxia type 32 True False False +Orphanet:276193 Spinocerebellar ataxia type 35 True False False +Orphanet:276198 Spinocerebellar ataxia type 36 True False False +Orphanet:2762 Progressive osseous heteroplasia True False False +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing True False False +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing True False False +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder True False False +Orphanet:276238 Machado-Joseph disease type 1 True False False +Orphanet:276241 Machado-Joseph disease type 2 True False False +Orphanet:276244 Machado-Joseph disease type 3 True False False +Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome True False False +Orphanet:2763 Osteocraniostenosis True False False +Orphanet:276399 Familial multinodular goiter True False False +Orphanet:2764 Osteochondritis dissecans True False False +Orphanet:276405 Hyperbiliverdinemia True False False +Orphanet:276413 10q22.3q23.3 microdeletion syndrome True False False +Orphanet:276422 10q22.3q23.3 microduplication syndrome True False False +Orphanet:276429 Hypnic headache True False False +Orphanet:276432 Ogden syndrome True False False +Orphanet:276435 Lower motor neuron syndrome with late-adult onset True False False +Orphanet:276525 Familial hyperinsulinism True False False +Orphanet:276556 Hyperinsulinism due to UCP2 deficiency True False False +Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency True False False +Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency True False False +Orphanet:276585 Diazoxide-resistant hyperinsulinism True False False +Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency True False False +Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency True False False +Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome True False False +Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma True False False +Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers True False False +Orphanet:2767 Carpotarsal osteochondromatosis True False False +Orphanet:2768 Blount disease True False False +Orphanet:2769 Familial osteodysplasia, Anderson type True False False +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency True False False +Orphanet:2770 Nasu-Hakola disease True False False +Orphanet:2771 Bruck syndrome True False False +Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome True False False +Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome True False False +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy True False False +Orphanet:2776 Autosomal recessive distal osteolysis syndrome True False False +Orphanet:2777 Osteomesopyknosis True False False +Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome True False False +Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome True False False +Orphanet:2783 Autosomal dominant osteopetrosis type 1 True False False +Orphanet:2785 Osteopetrosis with renal tubular acidosis True False False +Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome True False False +Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome True False False +Orphanet:2788 Osteoporosis-pseudoglioma syndrome True False False +Orphanet:2789 Lateral meningocele syndrome True False False +Orphanet:2790 Endosteal hyperostosis, Worth type True False False +Orphanet:2791 Otodental syndrome True False False +Orphanet:2792 Otofaciocervical syndrome True False False +Orphanet:2793 Otoonychoperoneal syndrome True False False +Orphanet:2795 Fowler urethral sphincter dysfunction syndrome True False False +Orphanet:2796 Pachydermoperiostosis True False False +Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome True False False +Orphanet:279882 Spasmus nutans True False False +Orphanet:279888 Acute endophthalmitis True False False +Orphanet:279891 Chronic endophthalmitis True False False +Orphanet:279894 Toxic maculopathy due to antimalarial drugs True False False +Orphanet:279897 Primary oculocerebral lymphoma True False False +Orphanet:279904 Primary intraocular lymphoma True False False +Orphanet:279914 Intermediate uveitis True False False +Orphanet:279919 Infectious posterior uveitis True False False +Orphanet:279922 Infectious anterior uveitis True False False +Orphanet:279925 Infectious panuveitis True False False +Orphanet:279928 Paraneoplastic uveitis True False False +Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency True False False +Orphanet:279943 Hereditary neutrophilia True False False +Orphanet:279947 Postorgasmic illness syndrome True False False +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia True False False +Orphanet:280 Wolf-Hirschhorn syndrome True False False +Orphanet:2800 Extramammary Paget disease True False False +Orphanet:280062 Calciphylaxis True False False +Orphanet:280065 Calciphylaxis cutis True False False +Orphanet:280068 Visceral calciphylaxis True False False +Orphanet:280071 ALG11-CDG True False False +Orphanet:2801 Juvenile Paget disease True False False +Orphanet:280133 Complement component 3 deficiency True False False +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency True False False +Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect True False False +Orphanet:280195 Septopreoptic holoprosencephaly True False False +Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia True False False +Orphanet:280200 Microform holoprosencephaly True False False +Orphanet:280205 Laryngotracheoesophageal cleft type 0 True False False +Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form True False False +Orphanet:280219 Pelizaeus-Merzbacher disease, classic form True False False +Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form True False False +Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers True False False +Orphanet:280234 Null syndrome True False False +Orphanet:280270 Pelizaeus-Merzbacher-like disease True False False +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation True False False +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation True False False +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation True False False +Orphanet:280302 Autoimmune pancreatitis type 1 True False False +Orphanet:280315 Autoimmune pancreatitis type 2 True False False +Orphanet:280325 Distal deletion 12p True False False +Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 True False False +Orphanet:280342 Rare systemic or rheumatological disease of childhood True False False +Orphanet:280356 PLIN1-related familial partial lipodystrophy True False False +Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy True False False +Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy True False False +Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome True False False +Orphanet:280397 Familial Alzheimer-like prion disease True False False +Orphanet:2804 W syndrome True False False +Orphanet:280400 Inherited human prion disease True False False +Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism True False False +Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness True False False +Orphanet:2805 Partial pancreatic agenesis True False False +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy True False False +Orphanet:280558 Warsaw breakage syndrome True False False +Orphanet:280576 Nestor-Guillermo progeria syndrome True False False +Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type True False False +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin True False False +Orphanet:2806 Subacute sclerosing leukoencephalitis True False False +Orphanet:280615 Hemoglobinopathy Toms River True False False +Orphanet:280620 Progressive myoclonic epilepsy type 6 True False False +Orphanet:280628 Familial progressive hyper- and hypopigmentation True False False +Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome True False False +Orphanet:280640 Occipital pachygyria and polymicrogyria True False False +Orphanet:280654 Autosomal recessive nail dysplasia True False False +Orphanet:280671 Megaconial congenital muscular dystrophy True False False +Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome True False False +Orphanet:2807 Papilloma of choroid plexus True False False +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia True False False +Orphanet:280774 Generalized essential telangiectasia True False False +Orphanet:280779 Cutaneous collagenous vasculopathy True False False +Orphanet:280785 Bullous diffuse cutaneous mastocytosis True False False +Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis True False False +Orphanet:2808 Laryngeal abductor paralysis True False False +Orphanet:280802 Intralobar congenital pulmonary sequestration True False False +Orphanet:280811 Extralobar congenital pulmonary sequestration True False False +Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation True False False +Orphanet:280827 Congenital pulmonary airway malformation type 0 True False False +Orphanet:280832 Congenital pulmonary airway malformation type 1 True False False +Orphanet:280840 Congenital pulmonary airway malformation type 2 True False False +Orphanet:280847 Congenital pulmonary airway malformation type 3 True False False +Orphanet:280854 Congenital pulmonary airway malformation type 4 True False False +Orphanet:280886 Anterior uveitis True False False +Orphanet:280892 Posterior uveitis True False False +Orphanet:280898 Panuveitis True False False +Orphanet:2809 Familial recurrent peripheral facial palsy True False False +Orphanet:280917 Idiopathic posterior uveitis True False False +Orphanet:280921 Idiopathic panuveitis True False False +Orphanet:280926 Systemic diseases with anterior uveitis True False False +Orphanet:280930 Systemic diseases with posterior uveitis True False False +Orphanet:280933 Systemic diseases with panuveitis True False False +Orphanet:281 Monosomy 5p True False False +Orphanet:281082 Inherited non-syndromic ichthyosis True False False +Orphanet:281085 Inherited ichthyosis syndromic form True False False +Orphanet:281090 Syndromic recessive X-linked ichthyosis True False False +Orphanet:281097 Autosomal recessive congenital ichthyosis True False False +Orphanet:281103 Keratinopathic ichthyosis True False False +Orphanet:281122 Self-improving collodion baby True False False +Orphanet:281127 Acral self-healing collodion baby True False False +Orphanet:281139 Annular epidermolytic ichthyosis True False False +Orphanet:281190 Congenital reticular ichthyosiform erythroderma True False False +Orphanet:2812 Parana hard skin syndrome True False False +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome True False False +Orphanet:281210 X-linked ichthyosis syndrome True False False +Orphanet:281217 Autosomal ichthyosis syndrome True False False +Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities True False False +Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs True False False +Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course True False False +Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs True False False +Orphanet:2815 Spastic paraparesis-deafness syndrome True False False +Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome True False False +Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome True False False +Orphanet:282 Frontotemporal dementia True False False +Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome True False False +Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome True False False +Orphanet:282124 Partial deletion of chromosome 12 True False False +Orphanet:282166 Inherited Creutzfeldt-Jakob disease True False False +Orphanet:282196 Autoimmune polyendocrinopathy True False False +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 True False False +Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome True False False +Orphanet:2825 PARC syndrome True False False +Orphanet:2826 Spastic paraplegia-precocious puberty syndrome True False False +Orphanet:2828 Young-onset Parkinson disease True False False +Orphanet:283 Demodicidosis True False False +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type True False False +Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome True False False +Orphanet:2833 Stiff skin syndrome True False False +Orphanet:2834 Wrinkly skin syndrome True False False +Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome True False False +Orphanet:2836 PEHO syndrome True False False +Orphanet:28378 Tyrosinemia type 2 True False False +Orphanet:2838 Renal caliceal diverticuli-deafness syndrome True False False +Orphanet:2839 Pelvis-shoulder dysplasia True False False +Orphanet:284 Alveolar echinococcosis True False False +Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome True False False +Orphanet:2841 Familial benign chronic pemphigus True False False +Orphanet:284139 Larsen-like syndrome, B3GAT3 type True False False +Orphanet:284149 Craniosynostosis-dental anomalies True False False +Orphanet:284160 8q21.11 microdeletion syndrome True False False +Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion True False False +Orphanet:284180 Xp22.13p22.2 duplication syndrome True False False +Orphanet:2842 Penoscrotal transposition True False False +Orphanet:284227 TEMPI syndrome True False False +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O True False False +Orphanet:284247 Familial retinal arterial macroaneurysm True False False +Orphanet:284264 IgG4-related disease True False False +Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome True False False +Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency True False False +Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia True False False +Orphanet:2843 Pentosuria True False False +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia True False False +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia True False False +Orphanet:284339 Pontocerebellar hypoplasia type 7 True False False +Orphanet:284343 DICER1 tumor-predisposition syndrome True False False +Orphanet:284362 Fetal lung interstitial tumor True False False +Orphanet:284388 Reversible cerebral vasoconstriction syndrome True False False +Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung True False False +Orphanet:284400 Small cell carcinoma of the bladder True False False +Orphanet:284411 Glycerol kinase deficiency, juvenile form True False False +Orphanet:284414 Glycerol kinase deficiency, adult form True False False +Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form True False False +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency True False False +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency True False False +Orphanet:284448 CLIPPERS True False False +Orphanet:284454 Acute zonal occult outer retinopathy True False False +Orphanet:284460 Acute annular outer retinopathy True False False +Orphanet:2846 Congenital pericardium anomaly True False False +Orphanet:2847 Pericardial and diaphragmatic defect True False False +Orphanet:284786 Qualitative or quantitative defects of troponin True False False +Orphanet:284790 Qualitative or quantitative defects of tropomyosin True False False +Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome True False False +Orphanet:284804 Ocular albinism True False False +Orphanet:284811 Syndromic oculocutaneous albinism True False False +Orphanet:284814 Disorder of phenylalanine metabolism True False False +Orphanet:284818 Disorder of tyrosine metabolism True False False +Orphanet:2849 Perlman syndrome True False False +Orphanet:284963 Marfan syndrome type 1 True False False +Orphanet:284973 Marfan syndrome type 2 True False False +Orphanet:284979 Neonatal Marfan syndrome True False False +Orphanet:284984 Aneurysm-osteoarthritis syndrome True False False +Orphanet:284993 Marfan syndrome and Marfan-related disorders True False False +Orphanet:285 Hypermobile Ehlers-Danlos syndrome True False False +Orphanet:2850 Alopecia-intellectual disability syndrome True False False +Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection True False False +Orphanet:2854 Fuhrmann syndrome True False False +Orphanet:2855 Perrault syndrome True False False +Orphanet:2856 Persistent Müllerian duct syndrome True False False +Orphanet:285657 Disorder of folate metabolism and transport True False False +Orphanet:286 Vascular Ehlers-Danlos syndrome True False False +Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome True False False +Orphanet:2865 Short stature-webbed neck-heart disease syndrome True False False +Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome True False False +Orphanet:2867 Short stature, Brussels type True False False +Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome True False False +Orphanet:2869 Peutz-Jeghers syndrome True False False +Orphanet:287 Classical Ehlers-Danlos syndrome True False False +Orphanet:2871 Pfeiffer-Palm-Teller syndrome True False False +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type True False False +Orphanet:2874 Phakomatosis pigmentokeratotica True False False +Orphanet:2875 Phakomatosis pigmentovascularis True False False +Orphanet:2876 PHAVER syndrome True False False +Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome True False False +Orphanet:2879 Phocomelia, Schinzel type True False False +Orphanet:288 Hereditary elliptocytosis True False False +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency True False False +Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome True False False +Orphanet:2882 Sitosterolemia True False False +Orphanet:2884 Piebaldism True False False +Orphanet:2885 Piebald trait-neurologic defects syndrome True False False +Orphanet:2886 TARP syndrome True False False +Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome True False False +Orphanet:2889 Pili torti True False False +Orphanet:289 Ellis Van Creveld syndrome True False False +Orphanet:2890 Pili torti-onychodysplasia syndrome True False False +Orphanet:289098 Disorders of vitamin D metabolism True False False +Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome True False False +Orphanet:289103 Hypocalcemic rickets True False False +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets True False False +Orphanet:289176 Autosomal recessive hypophosphatemic rickets True False False +Orphanet:2892 Pilodental dysplasia-refractive errors syndrome True False False +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation True False False +Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency True False False +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency True False False +Orphanet:289326 Tropical spastic paraparesis True False False +Orphanet:289347 Infective dermatitis associated with HTLV-1 True False False +Orphanet:289356 Primary non-gestational choriocarcinoma of ovary True False False +Orphanet:289362 Non-central nervous system-localized embryonal carcinoma True False False +Orphanet:289365 Familial vesicoureteral reflux True False False +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy True False False +Orphanet:289380 Myosclerosis True False False +Orphanet:289385 Malignancy diagnosed during pregnancy True False False +Orphanet:289390 Primary Sjögren syndrome True False False +Orphanet:289465 Isolated congenital adermatoglyphia True False False +Orphanet:289478 PASH syndrome True False False +Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome True False False +Orphanet:289494 4H leukodystrophy True False False +Orphanet:289499 Congenital cataract microcornea with corneal opacity True False False +Orphanet:289504 Combined malonic and methylmalonic acidemia True False False +Orphanet:289513 12q15q21.1 microdeletion syndrome True False False +Orphanet:289522 Microtriplication 11q24.1 True False False +Orphanet:289539 BAP1-related tumor predisposition syndrome True False False +Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency True False False +Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome True False False +Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration True False False +Orphanet:289573 Multiple mitochondrial dysfunctions syndrome True False False +Orphanet:289586 Exfoliative ichthyosis True False False +Orphanet:289596 Juvenile nasopharyngeal angiofibroma True False False +Orphanet:2896 Pitt-Hopkins syndrome True False False +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome True False False +Orphanet:289635 Rare virus associated tumor True False False +Orphanet:289638 Epstein-Barr Virus-related tumor True False False +Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder True False False +Orphanet:289651 Epstein-Barr Virus-associated carcinoma True False False +Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor True False False +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly True False False +Orphanet:289666 Plasmablastic lymphoma True False False +Orphanet:289682 Lymphoepithelial-like carcinoma True False False +Orphanet:289685 Myopericytoma True False False +Orphanet:2897 Pityriasis rubra pilaris True False False +Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome True False False +Orphanet:289829 Disorder of tryptophan metabolism True False False +Orphanet:289832 Disorder of lysine and hydroxylysine metabolism True False False +Orphanet:289841 Disorder of glutamine metabolism True False False +Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria True False False +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria True False False +Orphanet:289857 Neonatal glycine encephalopathy True False False +Orphanet:289860 Infantile glycine encephalopathy True False False +Orphanet:289863 Atypical glycine encephalopathy True False False +Orphanet:289866 Disorder of proline metabolism True False False +Orphanet:289869 Disorder of ornithine metabolism True False False +Orphanet:289877 Transient hyperammonemia of the newborn True False False +Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency True False False +Orphanet:289899 Organic aciduria True False False +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome True False False +Orphanet:289902 3-methylglutaconic aciduria True False False +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 True False False +Orphanet:29 Mevalonic aciduria True False False +Orphanet:290 Congenital rubella syndrome True False False +Orphanet:2900 Leri pleonosteosis True False False +Orphanet:2901 Neuralgic amyotrophy True False False +Orphanet:2902 Idiopathic chronic eosinophilic pneumonia True False False +Orphanet:2903 Familial spontaneous pneumothorax True False False +Orphanet:2905 POEMS syndrome True False False +Orphanet:2907 Hereditary acrokeratotic poikiloderma True False False +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma True False False +Orphanet:29073 Multiple myeloma True False False +Orphanet:2908 Kindler epidermolysis bullosa True False False +Orphanet:290836 Systemic disease with skin involvement True False False +Orphanet:290839 Autoinflammatory syndrome with immune deficiency True False False +Orphanet:290842 Autoinflammatory syndrome with skin involvement True False False +Orphanet:290849 Rare head and neck tumor True False False +Orphanet:2909 Rothmund-Thomson syndrome True False False +Orphanet:291 Congenital varicella syndrome True False False +Orphanet:2911 Poland syndrome True False False +Orphanet:2912 Poliomyelitis True False False +Orphanet:2913 Non-syndromic polydactyly True False False +Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome True False False +Orphanet:2917 Polydactyly-myopia syndrome True False False +Orphanet:2919 Orofaciodigital syndrome type 5 True False False +Orphanet:292 Congenital enterovirus infection True False False +Orphanet:2920 Oliver syndrome True False False +Orphanet:29207 Reactive arthritis True False False +Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome True False False +Orphanet:2924 Isolated polycystic liver disease True False False +Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy True False False +Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome True False False +Orphanet:2929 Juvenile polyposis syndrome True False False +Orphanet:293 Congenital herpes simplex virus infection True False False +Orphanet:2930 Cronkhite-Canada syndrome True False False +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion True False False +Orphanet:293150 Familial clubfoot due to PITX1 point mutation True False False +Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome True False False +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis True False False +Orphanet:293173 Acute generalized exanthematous pustulosis True False False +Orphanet:293181 Malignant migrating focal seizures of infancy True False False +Orphanet:293199 Pleomorphic rhabdomyosarcoma True False False +Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy True False False +Orphanet:293202 Epithelioid sarcoma True False False +Orphanet:293208 Celiac artery compression syndrome True False False +Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria True False False +Orphanet:293355 Methylmalonic acidemia without homocystinuria True False False +Orphanet:293375 Grayson-Wilbrandt corneal dystrophy True False False +Orphanet:293381 Epithelial recurrent erosion dystrophy True False False +Orphanet:2934 Polysyndactyly-cardiac malformation syndrome True False False +Orphanet:293462 Pre-Descemet corneal dystrophy True False False +Orphanet:2935 Crossed polysyndactyly True False False +Orphanet:293603 Congenital hereditary endothelial dystrophy type II True False False +Orphanet:293621 X-linked endothelial corneal dystrophy True False False +Orphanet:293633 PYCR1-related De Barsy syndrome True False False +Orphanet:293642 Blepharophimosis-intellectual disability syndrome True False False +Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type True False False +Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type True False False +Orphanet:293807 Ketamine-induced biliary dilatation True False False +Orphanet:293812 Fixed drug eruption True False False +Orphanet:293815 Toxic dermatosis True False False +Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome True False False +Orphanet:293825 Congenital dyserythropoietic anemia type IV True False False +Orphanet:293830 Constitutional dyserythropoietic anemia True False False +Orphanet:293843 3MC syndrome True False False +Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome True False False +Orphanet:293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant True False False +Orphanet:293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant True False False +Orphanet:293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant True False False +Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome True False False +Orphanet:293936 EDICT syndrome True False False +Orphanet:293939 Distal Xq28 microduplication syndrome True False False +Orphanet:293948 1p21.3 microdeletion syndrome True False False +Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency True False False +Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome True False False +Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy True False False +Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome True False False +Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome True False False +Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome True False False +Orphanet:294 Fetal cytomegalovirus syndrome True False False +Orphanet:2940 Porencephaly True False False +Orphanet:294016 Microcephaly-capillary malformation syndrome True False False +Orphanet:294023 Neonatal inflammatory skin and bowel disease True False False +Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication True False False +Orphanet:294057 Rare nevus True False False +Orphanet:294060 Multiple pterygium syndrome True False False +Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome True False False +Orphanet:2942 Postpoliomyelitis syndrome True False False +Orphanet:294415 Renal-hepatic-pancreatic dysplasia True False False +Orphanet:294422 Chronic intestinal failure True False False +Orphanet:2946 Brachydactyly-long thumb syndrome True False False +Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome True False False +Orphanet:294925 Amelia True False False +Orphanet:294927 Intercalary limb defects True False False +Orphanet:294944 Congenital deformities of limbs True False False +Orphanet:294947 Congenital deformities of fingers True False False +Orphanet:294949 Joint formation defects True False False +Orphanet:294951 Congenital joint dislocations True False False +Orphanet:294953 Non syndromic limb overgrowth True False False +Orphanet:294955 Syndrome with limb reduction defects True False False +Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs True False False +Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy True False False +Orphanet:294963 Popliteal pterygium syndrome True False False +Orphanet:294965 Lethal congenital contracture syndrome True False False +Orphanet:294967 Amelia of upper limb True False False +Orphanet:294969 Amelia of lower limb True False False +Orphanet:294971 Tetra-amelia True False False +Orphanet:294973 Humeral agenesis/hypoplasia True False False +Orphanet:294975 Congenital absence of upper arm and forearm with hand present True False False +Orphanet:294977 Congenital absence of thigh and lower leg with foot present True False False +Orphanet:294979 Congenital absence of both forearm and hand True False False +Orphanet:294981 Congenital absence of both lower leg and foot True False False +Orphanet:294983 Acheiria True False False +Orphanet:294986 Apodia True False False +Orphanet:294988 Congenital hypoplasia of thumb True False False +Orphanet:295 Fetal parvovirus syndrome True False False +Orphanet:295000 Constriction rings syndrome True False False +Orphanet:295002 Hyperphalangy True False False +Orphanet:295004 Central polydactyly True False False +Orphanet:295012 Syndactyly type 6 True False False +Orphanet:295014 Familial isolated clinodactyly of fingers True False False +Orphanet:295016 Camptodactyly of fingers True False False +Orphanet:295018 Congenital pseudoarthrosis of the tibia True False False +Orphanet:295020 Congenital pseudoarthrosis of the femur True False False +Orphanet:295022 Congenital pseudoarthrosis of the fibula True False False +Orphanet:295024 Congenital pseudoarthrosis of the radius True False False +Orphanet:295026 Congenital pseudoarthrosis of the ulna True False False +Orphanet:295028 Tibio-fibular synostosis True False False +Orphanet:295030 True congenital shoulder dislocation True False False +Orphanet:295032 Isolated congenital radial head dislocation True False False +Orphanet:295034 Congenital knee dislocation True False False +Orphanet:295036 Congenital patella dislocation True False False +Orphanet:295044 Macrodactyly of fingers True False False +Orphanet:295047 Macrodactyly of toes True False False +Orphanet:295049 Upper limb hypertrophy True False False +Orphanet:295051 Lower limb hypertrophy True False False +Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome True False False +Orphanet:295187 Zygodactyly type 1 True False False +Orphanet:295189 Zygodactyly type 2 True False False +Orphanet:295191 Zygodactyly type 3 True False False +Orphanet:295193 Zygodactyly type 4 True False False +Orphanet:295195 Synpolydactyly type 1 True False False +Orphanet:295197 Synpolydactyly type 2 True False False +Orphanet:295199 Synpolydactyly type 3 True False False +Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type True False False +Orphanet:295201 Congenital vertical talus, unilateral True False False +Orphanet:295203 Congenital vertical talus, bilateral True False False +Orphanet:295213 Humero-ulnar synostosis, unilateral True False False +Orphanet:295215 Humero-ulnar synostosis, bilateral True False False +Orphanet:295217 Radio-ulnar synostosis, unilateral True False False +Orphanet:295219 Radio-ulnar synostosis, bilateral True False False +Orphanet:295225 Congenital elbow dislocation, unilateral True False False +Orphanet:295227 Congenital elbow dislocation, bilateral True False False +Orphanet:295229 Congenital genu recurvatum True False False +Orphanet:295232 Congenital genu flexum True False False +Orphanet:295239 Macrodactyly of fingers, unilateral True False False +Orphanet:295241 Macrodactyly of fingers, bilateral True False False +Orphanet:295243 Macrodactyly of toes, unilateral True False False +Orphanet:295245 Macrodactyly of toes, bilateral True False False +Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome True False False +Orphanet:2956 Acrodysplasia scoliosis True False False +Orphanet:2957 Guttmacher syndrome True False False +Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome True False False +Orphanet:2959 Progeria-short stature-pigmented nevi syndrome True False False +Orphanet:296 Ollier disease True False False +Orphanet:2962 De Barsy syndrome True False False +Orphanet:2963 Progeroid syndrome, Petty type True False False +Orphanet:2964 Autosomal dominant prognathism True False False +Orphanet:2965 Prolactinoma True False False +Orphanet:2966 Properdin deficiency True False False +Orphanet:2967 Transcobalamin I deficiency True False False +Orphanet:2968 Leukocyte adhesion deficiency True False False +Orphanet:2969 Proteus-like syndrome True False False +Orphanet:297 Tick-borne encephalitis True False False +Orphanet:2970 Prune belly syndrome True False False +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency True False False +Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome True False False +Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome True False False +Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome True False False +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type True False False +Orphanet:2978 Chronic intestinal pseudoobstruction True False False +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy True False False +Orphanet:2980 Acrootoocular syndrome True False False +Orphanet:2982 46,XX difference of sex development True False False +Orphanet:29822 Spontaneous periodic hypothermia True False False +Orphanet:2983 Difference of sex development-intellectual disability syndrome True False False +Orphanet:2985 Pseudoprogeria syndrome True False False +Orphanet:298644 Disorder of thiamine metabolism and transport True False False +Orphanet:2987 Antecubital pterygium syndrome True False False +Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome True False False +Orphanet:2989 Familial pterygium of the conjunctiva True False False +Orphanet:2990 Autosomal recessive multiple pterygium syndrome True False False +Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome True False False +Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome True False False +Orphanet:2997 Ptosis-vocal cord paralysis syndrome True False False +Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome True False False +Orphanet:30 Hereditary orotic aciduria True False False +Orphanet:300 Bifunctional enzyme deficiency True False False +Orphanet:3000 Familial peripheral male-limited precocious puberty True False False +Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency True False False +Orphanet:3002 Immune thrombocytopenia True False False +Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency True False False +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis True False False +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts True False False +Orphanet:3003 Pyknoachondrogenesis True False False +Orphanet:300305 11p15.4 microduplication syndrome True False False +Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome True False False +Orphanet:300319 Charcot-Marie-Tooth disease type 2P True False False +Orphanet:300324 Persistent polyclonal B-cell lymphocytosis True False False +Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome True False False +Orphanet:300345 Autosomal systemic lupus erythematosus True False False +Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation True False False +Orphanet:300373 X-linked acrogigantism True False False +Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome True False False +Orphanet:300385 Pituitary carcinoma True False False +Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome True False False +Orphanet:300493 Sagliker syndrome True False False +Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 True False False +Orphanet:3005 Pyle disease True False False +Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome True False False +Orphanet:300504 Onychocytic matricoma True False False +Orphanet:300512 Onychomatricoma True False False +Orphanet:300515 Rare nail tumor True False False +Orphanet:300525 Pseudohypoaldosteronism type 2D True False False +Orphanet:300530 Pseudohypoaldosteronism type 2E True False False +Orphanet:300536 DDOST-CDG True False False +Orphanet:300547 Autosomal recessive infantile hypercalcemia True False False +Orphanet:300552 Follicular cholangitis and pancreatitis True False False +Orphanet:300557 Carcinoma of the ampulla of Vater True False False +Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome True False False +Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation True False False +Orphanet:300573 Polymicrogyria due to TUBB2B mutation True False False +Orphanet:300576 Oligodontia-cancer predisposition syndrome True False False +Orphanet:300579 Staphylococcal toxemia True False False +Orphanet:3006 Pyridoxine-dependent epilepsy True False False +Orphanet:300605 Juvenile amyotrophic lateral sclerosis True False False +Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation True False False +Orphanet:300755 Laminopathy with striated muscle involvement True False False +Orphanet:300758 Laminopathy with peripheral neuropathy True False False +Orphanet:300763 Laminopathy with lipodystrophy True False False +Orphanet:300766 Laminopathy with premature aging True False False +Orphanet:3008 Pyruvate carboxylase deficiency True False False +Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system True False False +Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma True False False +Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma True False False +Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma True False False +Orphanet:300878 Hairy cell leukemia variant True False False +Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation True False False +Orphanet:300895 ALK-positive anaplastic large cell lymphoma True False False +Orphanet:300903 ALK-negative anaplastic large cell lymphoma True False False +Orphanet:301 Ependymal tumor True False False +Orphanet:3010 Qazi-Markouizos syndrome True False False +Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome True False False +Orphanet:3015 Radio-renal syndrome True False False +Orphanet:3016 Absent radius-anogenital anomalies syndrome True False False +Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome True False False +Orphanet:3019 Ramon syndrome True False False +Orphanet:302 Epidermodysplasia verruciformis True False False +Orphanet:3020 Ramsay Hunt syndrome True False False +Orphanet:3021 RAPADILINO syndrome True False False +Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome True False False +Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome True False False +Orphanet:3027 Caudal regression syndrome True False False +Orphanet:303 Dystrophic epidermolysis bullosa True False False +Orphanet:3032 NPHP3-related Meckel-like syndrome True False False +Orphanet:3033 Renal tubular dysgenesis True False False +Orphanet:3034 Delayed membranous cranial ossification True False False +Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome True False False +Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome True False False +Orphanet:30391 Isolated biliary atresia True False False +Orphanet:304 Epidermolysis bullosa simplex True False False +Orphanet:304055 Pituitary tumor True False False +Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome True False False +Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome True False False +Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome True False False +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type True False False +Orphanet:305 Junctional epidermolysis bullosa True False False +Orphanet:3051 Nicolaides-Baraitser syndrome True False False +Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome True False False +Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome True False False +Orphanet:3057 Monoamine oxidase A deficiency True False False +Orphanet:306 Benign familial infantile epilepsy True False False +Orphanet:3063 X-linked intellectual disability, Snyder type True False False +Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies True False False +Orphanet:306498 PTEN hamartoma tumor syndrome True False False +Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome True False False +Orphanet:306511 Autosomal recessive spastic paraplegia type 48 True False False +Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis True False False +Orphanet:306527 Isolated hereditary congenital facial paralysis True False False +Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome True False False +Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome True False False +Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome True False False +Orphanet:306550 FADD-related immunodeficiency True False False +Orphanet:306553 Myospherulosis True False False +Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome True False False +Orphanet:306577 Hereditary sodium channelopathy-related small fibers neuropathy True False False +Orphanet:306617 X-linked complicated spastic paraplegia type 1 True False False +Orphanet:306640 Rare intoxication due to medical products True False False +Orphanet:306644 Complication after organ transplantation True False False +Orphanet:306648 Non-infectious anterior uveitis True False False +Orphanet:306658 Familial normophosphatemic tumoral calcinosis True False False +Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome True False False +Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease True False False +Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome True False False +Orphanet:306674 Kufor-Rakeb syndrome True False False +Orphanet:306679 Rare parkinsonian syndrome due to intoxication True False False +Orphanet:306682 Manganese poisoning True False False +Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning True False False +Orphanet:306692 Cyanide-induced parkinsonism-dystonia True False False +Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease True False False +Orphanet:306708 Frontotemporal neurodegeneration with movement disorder True False False +Orphanet:306712 Rare tremor disorder True False False +Orphanet:306715 Rare choreic movement disorder True False False +Orphanet:306719 Neurodegenerative disease with chorea True False False +Orphanet:306727 Postinfectious autoimmune disease with chorea True False False +Orphanet:306731 Sydenham chorea True False False +Orphanet:306734 Primary dystonia, DYT21 type True False False +Orphanet:306741 Hemidystonia-hemiatrophy syndrome True False False +Orphanet:306747 Rare myoclonus True False False +Orphanet:306750 Primary myoclonus True False False +Orphanet:306753 Rare disease with myoclonus as a major feature True False False +Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature True False False +Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature True False False +Orphanet:306765 Motor stereotypies True False False +Orphanet:306768 Rare paroxysmal movement disorder True False False +Orphanet:306773 Hyperekplexia True False False +Orphanet:306776 Sporadic hyperekplexia True False False +Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome True False False +Orphanet:307 Juvenile myoclonic epilepsy True False False +Orphanet:307052 Rare genetic parkinsonian disorder True False False +Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease True False False +Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease True False False +Orphanet:307061 Rare genetic tremor disorder True False False +Orphanet:307064 Rare genetic myoclonus True False False +Orphanet:307067 Rare genetic disease with myoclonus as a major feature True False False +Orphanet:3071 Costello syndrome True False False +Orphanet:307141 Diffuse palmoplantar keratoderma True False False +Orphanet:307148 Isolated diffuse palmoplantar keratoderma True False False +Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome True False False +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome True False False +Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature True False False +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome True False False +Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma True False False +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type True False False +Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature True False False +Orphanet:307837 Focal palmoplantar keratoderma True False False +Orphanet:307846 Isolated focal palmoplantar keratoderma True False False +Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature True False False +Orphanet:3079 Intellectual disability, Buenos-Aires type True False False +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome True False False +Orphanet:307967 Punctate palmoplantar keratoderma True False False +Orphanet:307995 Marginal papular palmoplantar keratoderma True False False +Orphanet:308 Progressive myoclonic epilepsy type 1 True False False +Orphanet:3080 Intellectual disability, Wolff type True False False +Orphanet:308013 Focal acral hyperkeratosis True False False +Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature True False False +Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature True False False +Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature True False False +Orphanet:308166 Erythrokeratoderma variabilis progressiva True False False +Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome True False False +Orphanet:308380 Methylcobalamin deficiency type cblDv1 True False False +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A True False False +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B True False False +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C True False False +Orphanet:308407 Disorder of beta and omega amino acid metabolism True False False +Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency True False False +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency True False False +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 True False False +Orphanet:308448 Aminoacylase deficiency True False False +Orphanet:308451 Disorder of neutral amino acid transport True False False +Orphanet:308459 Disorder of glycolysis True False False +Orphanet:308463 Disorder of fructose metabolism True False False +Orphanet:308467 Disorder of galactose metabolism True False False +Orphanet:308473 Erythrocyte galactose epimerase deficiency True False False +Orphanet:308487 Generalized galactose epimerase deficiency True False False +Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome True False False +Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency True False False +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset True False False +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy True False False +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form True False False +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form True False False +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form True False False +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form True False False +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form True False False +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form True False False +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form True False False +Orphanet:3088 Revesz syndrome True False False +Orphanet:308993 Glycerol kinase deficiency True False False +Orphanet:308998 Disorder of glyoxylate metabolism True False False +Orphanet:309 Familial partial epilepsy True False False +Orphanet:3090 Congenital pulmonary venous return anomaly True False False +Orphanet:309001 Disorder of carbohydrate absorption and transport True False False +Orphanet:309005 Disorder of lipid metabolism True False False +Orphanet:309015 Familial lipoprotein lipase deficiency True False False +Orphanet:309020 Familial apolipoprotein C-II deficiency True False False +Orphanet:309025 Mevalonate kinase deficiency True False False +Orphanet:309028 Disorder of lipid absorption and transport True False False +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency True False False +Orphanet:3091 Congenital systemic veins anomaly True False False +Orphanet:309108 Pancreatic colipase deficiency True False False +Orphanet:309111 Combined pancreatic lipase-colipase deficiency True False False +Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis True False False +Orphanet:309120 Acyl-CoA dehydrogenase deficiency True False False +Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency True False False +Orphanet:309130 Disorder of carnitine cycle and carnitine transport True False False +Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder True False False +Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes True False False +Orphanet:309147 Hyper-beta-alaninemia True False False +Orphanet:309155 Sandhoff disease, infantile form True False False +Orphanet:309162 Sandhoff disease, juvenile form True False False +Orphanet:309169 Sandhoff disease, adult form True False False +Orphanet:309178 Tay-Sachs disease, infantile form True False False +Orphanet:309185 Tay-Sachs disease, juvenile form True False False +Orphanet:309192 Tay-Sachs disease, adult form True False False +Orphanet:3092 Fixed subaortic stenosis True False False +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia True False False +Orphanet:309246 GM2 gangliosidosis, AB variant True False False +Orphanet:30925 Hereditary central diabetes insipidus True False False +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency True False False +Orphanet:309256 Metachromatic leukodystrophy, late infantile form True False False +Orphanet:309263 Metachromatic leukodystrophy, juvenile form True False False +Orphanet:309271 Metachromatic leukodystrophy, adult form True False False +Orphanet:309279 Glycoproteinosis True False False +Orphanet:309282 Alpha-mannosidosis, infantile form True False False +Orphanet:309288 Alpha-mannosidosis, adult form True False False +Orphanet:309294 Sialidosis True False False +Orphanet:309297 Mucopolysaccharidosis type 4A True False False +Orphanet:3093 Congenital aortic valve stenosis True False False +Orphanet:309310 Mucopolysaccharidosis type 4B True False False +Orphanet:309319 Disorder of sialic acid metabolism True False False +Orphanet:309324 Free sialic acid storage disease, infantile form True False False +Orphanet:309331 Intermediate severe Salla disease True False False +Orphanet:309334 Salla disease True False False +Orphanet:309337 Lysosomal glycogen storage disease True False False +Orphanet:309340 Disorder of lysosomal-related organelles True False False +Orphanet:309347 Disorder of protein N-glycosylation True False False +Orphanet:309447 Disorder of protein O-glycosylation True False False +Orphanet:309450 Disorder of O-xylosylglycan synthesis True False False +Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis True False False +Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis True False False +Orphanet:309469 Disorder of O-mannosylglycan synthesis True False False +Orphanet:3095 Atypical Rett syndrome True False False +Orphanet:309505 Disorder of fucoglycosan synthesis True False False +Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation True False False +Orphanet:309526 Disorder of multiple glycosylation True False False +Orphanet:309568 Defect in conserved oligomeric Golgi complex True False False +Orphanet:3096 Reye syndrome True False False +Orphanet:3097 Meacham syndrome True False False +Orphanet:309778 Defect in V-ATPase True False False +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 True False False +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 True False False +Orphanet:3098 Rhizomelic syndrome, Urbach type True False False +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 True False False +Orphanet:309813 Disorder of porphyrin and heme metabolism True False False +Orphanet:309816 Disorder of bilirubin metabolism and excretion True False False +Orphanet:309819 Disorder of pterin metabolism True False False +Orphanet:309824 Disorder of metabolite absorption and transport True False False +Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport True False False +Orphanet:309830 Disorder of catecholamine synthesis True False False +Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport True False False +Orphanet:309836 Disorder of mineral absorption and transport True False False +Orphanet:309839 Disorder of copper metabolism True False False +Orphanet:309842 Disorder of iron metabolism and transport True False False +Orphanet:309845 Disorder of zinc metabolism and transport True False False +Orphanet:309848 Disorder of magnesium transport True False False +Orphanet:309851 Disorder of manganese transport True False False +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome True False False +Orphanet:3099 Rheumatic fever True False False +Orphanet:31 Oxoglutaric aciduria True False False +Orphanet:310 Reflex epilepsy True False False +Orphanet:310050 Acquired immunodeficiency True False False +Orphanet:3101 Richieri Costa-da Silva syndrome True False False +Orphanet:3102 Richieri Costa-Pereira syndrome True False False +Orphanet:3103 Roberts syndrome True False False +Orphanet:3104 Robin sequence-oligodactyly syndrome True False False +Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement True False False +Orphanet:3107 Autosomal dominant Robinow syndrome True False False +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome True False False +Orphanet:3110 Rombo syndrome True False False +Orphanet:3111 Rotor syndrome True False False +Orphanet:31112 Dermatofibrosarcoma protuberans True False False +Orphanet:3115 Roussy-Lévy syndrome True False False +Orphanet:31150 Tangier disease True False False +Orphanet:31153 Hypoalphalipoproteinemia True False False +Orphanet:31154 Hypobetalipoproteinemia True False False +Orphanet:312 Autosomal dominant epidermolytic ichthyosis True False False +Orphanet:31202 Melioidosis True False False +Orphanet:31204 Nocardiosis True False False +Orphanet:31205 Rat-bite fever True False False +Orphanet:3121 Ruvalcaba syndrome True False False +Orphanet:3124 Saccharopinuria True False False +Orphanet:3129 Sarcosinemia True False False +Orphanet:313 Lamellar ichthyosis True False False +Orphanet:3130 Satoyoshi syndrome True False False +Orphanet:3132 Say-Barber-Miller syndrome True False False +Orphanet:3134 SCARF syndrome True False False +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency True False False +Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome True False False +Orphanet:313781 20p13 microdeletion syndrome True False False +Orphanet:313795 Jawad syndrome True False False +Orphanet:3138 Ulnar-mammary syndrome True False False +Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome True False False +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia True False False +Orphanet:313838 Coats plus syndrome True False False +Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome True False False +Orphanet:313850 Infantile cerebellar-retinal degeneration True False False +Orphanet:313855 FGFR2-related bent bone dysplasia True False False +Orphanet:313884 12p12.1 microdeletion syndrome True False False +Orphanet:313892 Developmental and speech delay due to SOX5 deficiency True False False +Orphanet:313906 Congenital pancreatic cyst True False False +Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma True False False +Orphanet:313936 PENS syndrome True False False +Orphanet:313947 2q23.1 microduplication syndrome True False False +Orphanet:314 Erythroderma desquamativum True False False +Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome True False False +Orphanet:314017 Idiopathic linear interstitial keratitis True False False +Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach True False False +Orphanet:314029 High bone mass osteogenesis imperfecta True False False +Orphanet:314034 7p22.1 microduplication syndrome True False False +Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome True False False +Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome True False False +Orphanet:3143 Autoimmune polyendocrinopathy type 2 True False False +Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity True False False +Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency True False False +Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 True False False +Orphanet:314389 Xq12-q13.3 duplication syndrome True False False +Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome True False False +Orphanet:314399 Autosomal dominant aplasia and myelodysplasia True False False +Orphanet:3144 Schneckenbecken dysplasia True False False +Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome True False False +Orphanet:314419 Ameloblastoma True False False +Orphanet:314422 Ameloblastic carcinoma True False False +Orphanet:314425 Rare odontogenic tumor True False False +Orphanet:314432 Spigelian hernia-cryptorchidism syndrome True False False +Orphanet:314451 Meigs syndrome True False False +Orphanet:314459 Pseudo-Meigs syndrome True False False +Orphanet:314466 Atypical Meigs syndrome True False False +Orphanet:314473 Ovarian fibroma True False False +Orphanet:314478 Ovarian fibrothecoma True False False +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy True False False +Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome True False False +Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome True False False +Orphanet:314566 Primary progressive apraxia of speech True False False +Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome True False False +Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome True False False +Orphanet:314585 15q overgrowth syndrome True False False +Orphanet:314588 Distal triplication 15q True False False +Orphanet:314597 Chudley-McCullough syndrome True False False +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy True False False +Orphanet:314613 Growing teratoma syndrome True False False +Orphanet:314621 Duplication of the pituitary gland True False False +Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis True False False +Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency True False False +Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability True False False +Orphanet:314652 Variant ABeta2M amyloidosis True False False +Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion True False False +Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia True False False +Orphanet:314667 TMEM165-CDG True False False +Orphanet:314679 Cerebrofacioarticular syndrome True False False +Orphanet:314684 Primary bone lymphoma True False False +Orphanet:314689 Combined immunodeficiency due to STK4 deficiency True False False +Orphanet:314697 Acquired porencephaly True False False +Orphanet:314701 Primary systemic amyloidosis True False False +Orphanet:314709 Primary localized amyloidosis True False False +Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency True False False +Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency True False False +Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature True False False +Orphanet:314753 Functioning pituitary adenoma True False False +Orphanet:314759 Mixed functioning pituitary adenoma True False False +Orphanet:314769 Somatomammotropinoma True False False +Orphanet:314777 Familial isolated pituitary adenoma True False False +Orphanet:314786 Silent pituitary adenoma True False False +Orphanet:314790 Null pituitary adenoma True False False +Orphanet:314795 SHOX-related short stature True False False +Orphanet:3148 Malignant peripheral nerve sheath tumor True False False +Orphanet:314802 Short stature due to partial GHR deficiency True False False +Orphanet:314811 Short stature due to GHSR deficiency True False False +Orphanet:314822 Primary renal tubular acidosis True False False +Orphanet:314889 Autosomal dominant proximal renal tubular acidosis True False False +Orphanet:314911 Severe Canavan disease True False False +Orphanet:314918 Mild Canavan disease True False False +Orphanet:314950 Primary hypereosinophilic syndrome True False False +Orphanet:314962 Secondary hypereosinophilic syndrome True False False +Orphanet:314970 Lymphocytic hypereosinophilic syndrome True False False +Orphanet:314978 X-linked non progressive cerebellar ataxia True False False +Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome True False False +Orphanet:315 Erythrokeratoderma ''en cocardes'' True False False +Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome True False False +Orphanet:3152 Sclerosteosis True False False +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form True False False +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form True False False +Orphanet:315350 Autoimmune disease with skin involvement True False False +Orphanet:3156 Senior-Loken syndrome True False False +Orphanet:3157 Septo-optic dysplasia spectrum True False False +Orphanet:316 Progressive symmetric erythrokeratodermia True False False +Orphanet:3161 Congenital pulmonary sequestration True False False +Orphanet:3162 Sézary syndrome True False False +Orphanet:316226 Spastic ataxia True False False +Orphanet:316235 Autosomal dominant spastic ataxia True False False +Orphanet:316240 Autosomal recessive spastic ataxia True False False +Orphanet:316244 Partial deletion of the short arm of chromosome 12 True False False +Orphanet:3163 SHORT syndrome True False False +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type True False False +Orphanet:3165 Eosinophilic fasciitis True False False +Orphanet:3166 Sialuria True False False +Orphanet:3167 Siegler-Brewer-Carey syndrome True False False +Orphanet:3168 Sillence syndrome True False False +Orphanet:3169 Sirenomelia True False False +Orphanet:317 Erythrokeratodermia variabilis True False False +Orphanet:31709 Infantile convulsions and choreoathetosis True False False +Orphanet:3172 Eyebrow duplication-syndactyly syndrome True False False +Orphanet:3173 Infantile spasms-broad thumbs syndrome True False False +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency True False False +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency True False False +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency True False False +Orphanet:317473 Pancytopenia due to IKZF1 mutations True False False +Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia True False False +Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome True False False +Orphanet:3176 Spina bifida-hypospadias syndrome True False False +Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome True False False +Orphanet:318 Acute erythroid leukemia True False False +Orphanet:3180 Spondylocamptodactyly syndrome True False False +Orphanet:3181 Sprengel deformity True False False +Orphanet:31824 Colchicine poisoning True False False +Orphanet:31825 Methanol poisoning True False False +Orphanet:31826 Ethylene glycol poisoning True False False +Orphanet:31827 Paraquat poisoning True False False +Orphanet:31828 Digitalis poisoning True False False +Orphanet:31837 Pulmonary venoocclusive disease True False False +Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome True False False +Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome True False False +Orphanet:3189 Congenital pulmonary valvar stenosis True False False +Orphanet:319 Skeletal Ewing sarcoma True False False +Orphanet:3190 Subpulmonary stenosis True False False +Orphanet:3191 Subaortic stenosis-short stature syndrome True False False +Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores True False False +Orphanet:319171 Distal 17p13.1 microdeletion syndrome True False False +Orphanet:319182 Wiedemann-Steiner syndrome True False False +Orphanet:319189 Familial cortical myoclonus True False False +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia True False False +Orphanet:319195 Chondroectodermal dysplasia with night blindness True False False +Orphanet:319199 Autosomal recessive spastic paraplegia type 53 True False False +Orphanet:3192 Supravalvular pulmonary stenosis True False False +Orphanet:319205 Bilateral massive adrenal hemorrhage True False False +Orphanet:319213 Lujo hemorrhagic fever True False False +Orphanet:319218 Ebola hemorrhagic fever True False False +Orphanet:319223 Argentine hemorrhagic fever True False False +Orphanet:319229 Bolivian hemorrhagic fever True False False +Orphanet:319234 Venezuelan hemorrhagic fever True False False +Orphanet:319239 Brazilian hemorrhagic fever True False False +Orphanet:319244 Chapare hemorrhagic fever True False False +Orphanet:319247 Hantavirus pulmonary syndrome True False False +Orphanet:319251 Rift valley fever True False False +Orphanet:319254 Kyasanur forest disease True False False +Orphanet:319266 Omsk hemorrhagic fever True False False +Orphanet:319276 Clear cell renal carcinoma True False False +Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential True False False +Orphanet:319298 Papillary renal cell carcinoma True False False +Orphanet:3193 Supravalvular aortic stenosis True False False +Orphanet:319303 Chromophobe renal cell carcinoma True False False +Orphanet:319308 MiT family translocation renal cell carcinoma True False False +Orphanet:319319 Renal medullary carcinoma True False False +Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma True False False +Orphanet:319325 Tubulocystic renal cell carcinoma True False False +Orphanet:319328 Inherited renal cancer-predisposing syndrome True False False +Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita True False False +Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome True False False +Orphanet:3194 Corneodermatoosseous syndrome True False False +Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations True False False +Orphanet:319465 Inherited acute myeloid leukemia True False False +Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations True False False +Orphanet:319487 Familial papillary or follicular thyroid carcinoma True False False +Orphanet:319494 Familial nonmedullary thyroid carcinoma True False False +Orphanet:319504 Combined oxidative phosphorylation defect type 8 True False False +Orphanet:319509 Combined oxidative phosphorylation defect type 9 True False False +Orphanet:319514 Combined oxidative phosphorylation defect type 13 True False False +Orphanet:319519 Combined oxidative phosphorylation defect type 14 True False False +Orphanet:319524 Combined oxidative phosphorylation defect type 15 True False False +Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency True False False +Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency True False False +Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency True False False +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency True False False +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency True False False +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency True False False +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency True False False +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency True False False +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency True False False +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency True False False +Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency True False False +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency True False False +Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome True False False +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency True False False +Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases True False False +Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency True False False +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency True False False +Orphanet:319635 Amyloidosis cutis dyschromia True False False +Orphanet:319640 Retinal macular dystrophy type 2 True False False +Orphanet:319646 PGM1-CDG True False False +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease True False False +Orphanet:319667 Primary lymphoma of the conjunctiva True False False +Orphanet:319671 Alazami syndrome True False False +Orphanet:319675 Microcephalic primordial dwarfism, Dauber type True False False +Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome True False False +Orphanet:3197 Hereditary hyperekplexia True False False +Orphanet:319719 Autoinflammatory syndrome of childhood True False False +Orphanet:3198 Stiff person spectrum disorder True False False +Orphanet:3199 Stimmler syndrome True False False +Orphanet:32 Glutathione synthetase deficiency True False False +Orphanet:320 Apparent mineralocorticoid excess True False False +Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome True False False +Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome True False False +Orphanet:3202 Dehydrated hereditary stomatocytosis True False False +Orphanet:3203 Overhydrated hereditary stomatocytosis True False False +Orphanet:320332 X-linked pure spastic paraplegia True False False +Orphanet:320335 Pure or complex hereditary spastic paraplegia True False False +Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia True False False +Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia True False False +Orphanet:320350 Pure or complex X-linked spastic paraplegia True False False +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 True False False +Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia True False False +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 True False False +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 True False False +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 True False False +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 True False False +Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation True False False +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 True False False +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 True False False +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome True False False +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 True False False +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome True False False +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 True False False +Orphanet:3205 Sturge-Weber syndrome True False False +Orphanet:3206 Stüve-Wiedemann syndrome True False False +Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome True False False +Orphanet:3208 Isolated succinate-CoQ reductase deficiency True False False +Orphanet:321 Multiple osteochondromas True False False +Orphanet:3210 Summitt syndrome True False False +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type True False False +Orphanet:3216 Conductive deafness-malformed external ear syndrome True False False +Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome True False False +Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome True False False +Orphanet:3219 Fountain syndrome True False False +Orphanet:322 Exstrophy-epispadias complex True False False +Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome True False False +Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues True False False +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity True False False +Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome True False False +Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome True False False +Orphanet:3226 Deafness-lymphedema-leukemia syndrome True False False +Orphanet:3230 Deafness-oligodontia syndrome True False False +Orphanet:3231 Deafness-onychodystrophy syndrome True False False +Orphanet:3232 Deafness-ear malformation-facial palsy syndrome True False False +Orphanet:3233 Cochleosaccular degeneration-cataract syndrome True False False +Orphanet:3235 Progressive deafness with stapes fixation True False False +Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome True False False +Orphanet:3237 Multiple synostoses syndrome True False False +Orphanet:3238 Cardiospondylocarpofacial syndrome True False False +Orphanet:3239 Deafness-vitiligo-achalasia syndrome True False False +Orphanet:324 Fabry disease True False False +Orphanet:3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome True False False +Orphanet:3241 Deafness-craniofacial syndrome True False False +Orphanet:3242 Renpenning syndrome True False False +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency True False False +Orphanet:324290 Early-onset Lafora body disease True False False +Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis True False False +Orphanet:324299 Multiple paragangliomas associated with polycythemia True False False +Orphanet:3243 Sweet syndrome True False False +Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome True False False +Orphanet:324313 9p13 microdeletion syndrome True False False +Orphanet:324321 Sinoatrial node dysfunction and deafness True False False +Orphanet:324353 Congenital achiasma True False False +Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations True False False +Orphanet:324381 Hereditary inclusion body myopathy type 4 True False False +Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome True False False +Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome True False False +Orphanet:324422 ALG13-CDG True False False +Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia True False False +Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation True False False +Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation True False False +Orphanet:324535 Combined oxidative phosphorylation defect type 11 True False False +Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome True False False +Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome True False False +Orphanet:324569 Pontocerebellar hypoplasia type 8 True False False +Orphanet:324575 Hyperinsulinism due to HNF1A deficiency True False False +Orphanet:324581 Benign Samaritan congenital myopathy True False False +Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain True False False +Orphanet:324588 Familial dyskinesia and facial myokymia True False False +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet True False False +Orphanet:324601 X-linked cleft palate and ankyloglossia True False False +Orphanet:324604 Classic multiminicore myopathy True False False +Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation True False False +Orphanet:324625 Chikungunya True False False +Orphanet:324632 Hendra virus infection True False False +Orphanet:324636 Autoerythrocyte sensitization syndrome True False False +Orphanet:324648 Invasive non-typhoidal salmonellosis True False False +Orphanet:324703 ABetaL34V amyloidosis True False False +Orphanet:324708 ABeta amyloidosis, Iowa type True False False +Orphanet:324713 ABeta amyloidosis, Italian type True False False +Orphanet:324718 ABetaA21G amyloidosis True False False +Orphanet:324723 ABeta amyloidosis, Arctic type True False False +Orphanet:324737 SRD5A3-CDG True False False +Orphanet:324761 Microcephalic primordial dwarfism True False False +Orphanet:324764 Trichorhinophalangeal syndrome True False False +Orphanet:3248 Distal symphalangism True False False +Orphanet:324924 Hereditary periodic fever syndrome True False False +Orphanet:324927 Pyogenic autoinflammatory syndrome True False False +Orphanet:324930 Granulomatous autoinflammatory syndrome True False False +Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome True False False +Orphanet:324936 Unclassified autoinflammatory syndrome True False False +Orphanet:324939 Periodic fever syndrome of childhood True False False +Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood True False False +Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood True False False +Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis True False False +Orphanet:324972 MAGIC syndrome True False False +Orphanet:324977 Proteasome-associated autoinflammatory syndrome True False False +Orphanet:325 Congenital factor II deficiency True False False +Orphanet:3250 Proximal symphalangism True False False +Orphanet:325055 46,XX disorder of gonadal development True False False +Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess True False False +Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen True False False +Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen True False False +Orphanet:325109 Syndrome with 46,XX difference of sex development True False False +Orphanet:325118 46,XY disorder of gonadal development True False False +Orphanet:325124 Testicular agenesis True False False +Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome True False False +Orphanet:325345 46,XY ovotesticular difference of sex development True False False +Orphanet:325351 46,XY difference of sex development of endocrine origin True False False +Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency True False False +Orphanet:3255 Filippi syndrome True False False +Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency True False False +Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency True False False +Orphanet:325546 Sex chromosome difference of sex development True False False +Orphanet:325620 Difference of sex development of gynecological interest True False False +Orphanet:325632 46,XY difference of sex development of gynecological interest True False False +Orphanet:325638 Syndrome with difference of sex development of gynecological interest True False False +Orphanet:325665 Genetic difference of sex development of gynecological interest True False False +Orphanet:325690 Genetic difference of sex development True False False +Orphanet:325697 Genetic 46,XX difference of sex development True False False +Orphanet:325706 Genetic 46,XY difference of sex development True False False +Orphanet:3258 Cenani-Lenz syndrome True False False +Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome True False False +Orphanet:326 Congenital factor V deficiency True False False +Orphanet:3260 Idiopathic hypereosinophilic syndrome True False False +Orphanet:3261 Autoimmune lymphoproliferative syndrome True False False +Orphanet:3262 Dobrow syndrome True False False +Orphanet:3263 Syngnathia-cleft palate syndrome True False False +Orphanet:3265 Humero-radial synostosis True False False +Orphanet:3266 Humero-radio-ulnar synostosis True False False +Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome True False False +Orphanet:3269 Congenital radioulnar synostosis True False False +Orphanet:327 Congenital factor VII deficiency True False False +Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome True False False +Orphanet:3273 Synovial sarcoma True False False +Orphanet:3275 Spondylocarpotarsal synostosis True False False +Orphanet:3276 Disorder of plasmalogens biosynthesis True False False +Orphanet:328 Congenital factor X deficiency True False False +Orphanet:3280 Syringomyelia True False False +Orphanet:3282 Multifocal atrial tachycardia True False False +Orphanet:3283 His bundle tachycardia True False False +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia True False False +Orphanet:3287 Takayasu arteritis True False False +Orphanet:329 Congenital factor XI deficiency True False False +Orphanet:3291 Teebi-Shaltout syndrome True False False +Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis True False False +Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy True False False +Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome True False False +Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability True False False +Orphanet:3292 Tel Hashomer camptodactyly syndrome True False False +Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy True False False +Orphanet:329217 Cerebral sinovenous thrombosis True False False +Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome True False False +Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency True False False +Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement True False False +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy True False False +Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency True False False +Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q True False False +Orphanet:329284 Beta-propeller protein-associated neurodegeneration True False False +Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome True False False +Orphanet:329303 PLA2G6-associated neurodegeneration True False False +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration True False False +Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency True False False +Orphanet:329319 Thrombocythemia with distal limb defects True False False +Orphanet:329324 Inverse Klippel-Trénaunay syndrome True False False +Orphanet:329329 Autosomal recessive frontotemporal pachygyria True False False +Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome True False False +Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy True False False +Orphanet:3294 Extensor tendons of finger anomalies True False False +Orphanet:329457 Distal arthrogryposis type 5D True False False +Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type True False False +Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome True False False +Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome True False False +Orphanet:329478 Adult-onset distal myopathy due to VCP mutation True False False +Orphanet:329481 Lipoprotein glomerulopathy True False False +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome True False False +Orphanet:329802 5p13 microduplication syndrome True False False +Orphanet:329813 Mosaic genome-wide paternal uniparental disomy True False False +Orphanet:329874 Idiopathic giant cell myocarditis True False False +Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy True False False +Orphanet:329888 Juvenile idiopathic inflammatory myopathy True False False +Orphanet:329894 Juvenile overlap myositis True False False +Orphanet:3299 Tetanus True False False +Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis True False False +Orphanet:329918 C3 glomerulopathy True False False +Orphanet:329931 C3 glomerulonephritis True False False +Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency True False False +Orphanet:329967 Intermittent hydrarthrosis True False False +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli True False False +Orphanet:329977 Classic neuroendocrine tumor of appendix True False False +Orphanet:329984 Goblet cell carcinoma True False False +Orphanet:33 Isovaleric acidemia True False False +Orphanet:330 Congenital factor XII deficiency True False False +Orphanet:330001 Wild type ATTR amyloidosis True False False +Orphanet:33001 Lymphedema-distichiasis syndrome True False False +Orphanet:330012 High altitude pulmonary edema True False False +Orphanet:330015 Lead poisoning True False False +Orphanet:330021 Mercury poisoning True False False +Orphanet:330029 Hypotrichosis-deafness syndrome True False False +Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome True False False +Orphanet:330041 Hemoglobin M disease True False False +Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect True False False +Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome True False False +Orphanet:330058 Hydroa vacciniforme True False False +Orphanet:330061 Actinic prurigo True False False +Orphanet:330064 Chronic actinic dermatitis True False False +Orphanet:3301 Tetraamelia-multiple malformations syndrome True False False +Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability True False False +Orphanet:3303 Tetralogy of Fallot True False False +Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome True False False +Orphanet:3305 Tetraploidy True False False +Orphanet:3306 Inverted duplicated chromosome 15 syndrome True False False +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type True False False +Orphanet:33069 Dravet syndrome True False False +Orphanet:3307 Tetrasomy 18p True False False +Orphanet:3309 Tetrasomy 5p True False False +Orphanet:331 Congenital factor XIII deficiency True False False +Orphanet:3310 Tetrasomy 9p True False False +Orphanet:33108 Lethal multiple pterygium syndrome True False False +Orphanet:33110 Autosomal agammaglobulinemia True False False +Orphanet:33111 Granulomatous slack skin True False False +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency True False False +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency True False False +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency True False False +Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity True False False +Orphanet:3312 Thalidomide embryopathy True False False +Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency True False False +Orphanet:331217 Syndrome with combined immunodeficiency True False False +Orphanet:331220 Immunodeficiency due to absence of thymus True False False +Orphanet:331223 Hyper-IgE syndrome True False False +Orphanet:331226 Susceptibility to infection due to TYK2 deficiency True False False +Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells True False False +Orphanet:331235 Selective IgM deficiency True False False +Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects True False False +Orphanet:3314 Thiemann disease, familial form True False False +Orphanet:3316 Thomas syndrome True False False +Orphanet:3317 Thoracolaryngopelvic dysplasia True False False +Orphanet:3318 Essential thrombocythemia True False False +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia True False False +Orphanet:332 Congenital intrinsic factor deficiency True False False +Orphanet:3320 Thrombocytopenia-absent radius syndrome True False False +Orphanet:33208 Idiopathic hypersomnia True False False +Orphanet:3322 Hoyeraal-Hreidarsson syndrome True False False +Orphanet:33226 Waldenström macroglobulinemia True False False +Orphanet:3324 Familial thrombomodulin anomalies True False False +Orphanet:3325 Heparin-induced thrombocytopenia True False False +Orphanet:3326 Thymic-renal-anal-lung dysplasia True False False +Orphanet:3327 Thyrocerebrorenal syndrome True False False +Orphanet:33276 Kaposi sarcoma True False False +Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome True False False +Orphanet:3329 Tibial aplasia-ectrodactyly syndrome True False False +Orphanet:333 Farber disease True False False +Orphanet:33314 Jessner lymphocytic infiltration of the skin True False False +Orphanet:33355 Reticular dysgenesis True False False +Orphanet:33364 Trichothiodystrophy True False False +Orphanet:3337 Primary Fanconi renotubular syndrome True False False +Orphanet:3338 Toriello-Carey syndrome True False False +Orphanet:3339 Toriello-Lacassie-Droste syndrome True False False +Orphanet:334 Familial atrial fibrillation True False False +Orphanet:33402 Pediatric hepatocellular carcinoma True False False +Orphanet:33408 Bullous lichen planus True False False +Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome True False False +Orphanet:3342 Arterial tortuosity syndrome True False False +Orphanet:3343 Toxocariasis True False False +Orphanet:3344 Weismann-Netter syndrome True False False +Orphanet:33445 Neuroectodermal melanolysosomal disease True False False +Orphanet:3346 Tracheal agenesis True False False +Orphanet:3347 Mounier-Kühn syndrome True False False +Orphanet:33475 Meningococcal meningitis True False False +Orphanet:3348 Tracheobronchopathia osteochondroplastica True False False +Orphanet:335 Congenital fibrinogen deficiency True False False +Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome True False False +Orphanet:3351 Trichodental syndrome True False False +Orphanet:3352 Tricho-dento-osseous syndrome True False False +Orphanet:3353 Trichodermodysplasia-dental alterations syndrome True False False +Orphanet:33543 Kleine-Levin syndrome True False False +Orphanet:3355 Trichoodontoonychial dysplasia True False False +Orphanet:33572 5-oxoprolinase deficiency True False False +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency True False False +Orphanet:33574 Glutamate-cysteine ligase deficiency True False False +Orphanet:33577 Nodular non-suppurative panniculitis True False False +Orphanet:3361 Trichodysplasia-xeroderma syndrome True False False +Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome True False False +Orphanet:3365 Trigonocephaly-broad thumbs syndrome True False False +Orphanet:3366 Non-syndromic metopic craniosynostosis True False False +Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome True False False +Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome True False False +Orphanet:337 Fibrodysplasia ossificans progressiva True False False +Orphanet:3374 Unilateral ocular duplication True False False +Orphanet:3375 Trisomy X True False False +Orphanet:3376 Triploidy True False False +Orphanet:3377 Trismus-pseudocamptodactyly syndrome True False False +Orphanet:3378 Trisomy 13 True False False +Orphanet:3379 Distal duplication 17q True False False +Orphanet:3380 Trisomy 18 True False False +Orphanet:3383 Humerus trochlea aplasia True False False +Orphanet:3384 Truncus arteriosus True False False +Orphanet:3385 African trypanosomiasis True False False +Orphanet:3386 American trypanosomiasis True False False +Orphanet:3387 Isolated anterior cervical hypertrichosis True False False +Orphanet:3388 Neural tube defect True False False +Orphanet:3389 Tuberculosis True False False +Orphanet:3392 Tularemia True False False +Orphanet:3394 Soft tissue sarcoma True False False +Orphanet:3398 Thymic epithelial neoplasm True False False +Orphanet:340 Hemorrhagic fever-renal syndrome True False False +Orphanet:3400 Aorto-ventricular tunnel True False False +Orphanet:3402 Transient tyrosinemia of the newborn True False False +Orphanet:3403 Uhl anomaly True False False +Orphanet:3404 Ulbright-Hodes syndrome True False False +Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome True False False +Orphanet:3406 Ulerythema ophryogenesis True False False +Orphanet:3408 Upington disease True False False +Orphanet:3409 Urban-Rogers-Meyer syndrome True False False +Orphanet:341 Viral hemorrhagic fever True False False +Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome True False False +Orphanet:3412 VACTERL with hydrocephalus True False False +Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease True False False +Orphanet:3416 Hyperostosis corticalis generalisata True False False +Orphanet:3417 Van den Bosch syndrome True False False +Orphanet:342 Familial Mediterranean fever True False False +Orphanet:34217 Naxos disease True False False +Orphanet:3424 Velo-facial-skeletal syndrome True False False +Orphanet:3426 Double outlet right ventricle True False False +Orphanet:3427 Double outlet left ventricle True False False +Orphanet:3429 Verloove Vanhorick-Brubakk syndrome True False False +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever True False False +Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome True False False +Orphanet:3434 MMEP syndrome True False False +Orphanet:3437 Vogt-Koyanagi-Harada disease True False False +Orphanet:3439 Von Voss-Cherstvoy syndrome True False False +Orphanet:344 Arbovirus fever True False False +Orphanet:3440 Waardenburg syndrome True False False +Orphanet:3447 Weaver syndrome True False False +Orphanet:3448 Weaver-Williams syndrome True False False +Orphanet:3449 Weill-Marchesani syndrome True False False +Orphanet:345 Dissecting cellulitis of the scalp True False False +Orphanet:3451 Infantile spasms syndrome True False False +Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 True False False +Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 True False False +Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 True False False +Orphanet:3452 Whipple disease True False False +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency True False False +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria True False False +Orphanet:3453 Autoimmune polyendocrinopathy type 1 True False False +Orphanet:34533 Corneal dystrophy True False False +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome True False False +Orphanet:3455 Wiedemann-Rautenstrauch syndrome True False False +Orphanet:3456 Wildervanck syndrome True False False +Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency True False False +Orphanet:3459 Wilson-Turner syndrome True False False +Orphanet:34592 Immunodeficiency by defective expression of MHC class I True False False +Orphanet:346 Quinquaud folliculitis decalvans True False False +Orphanet:3463 Wolfram syndrome True False False +Orphanet:3464 Woodhouse-Sakati syndrome True False False +Orphanet:3465 Worster-Drought syndrome True False False +Orphanet:3466 WT limb-blood syndrome True False False +Orphanet:3467 Hereditary xanthinuria True False False +Orphanet:3469 XK aprosencephaly syndrome True False False +Orphanet:347 Frasier syndrome True False False +Orphanet:3471 Young syndrome True False False +Orphanet:3472 Yunis-Varon syndrome True False False +Orphanet:3473 Zimmermann-Laband syndrome True False False +Orphanet:3474 CHIME syndrome True False False +Orphanet:348 Fructose-1,6-bisphosphatase deficiency True False False +Orphanet:349 Fucosidosis True False False +Orphanet:35 Propionic acidemia True False False +Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients True False False +Orphanet:35063 Fulminant viral hepatitis True False False +Orphanet:35069 Infantile neuroaxonal dystrophy True False False +Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency True False False +Orphanet:35093 Non-syndromic sagittal craniosynostosis True False False +Orphanet:35099 Non-syndromic bicoronal craniosynostosis True False False +Orphanet:351 Galactosialidosis True False False +Orphanet:35107 Desmosterolosis True False False +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency True False False +Orphanet:35121 Lysosomal acid phosphatase deficiency True False False +Orphanet:35122 Congenital sucrase-isomaltase deficiency True False False +Orphanet:35125 Epidermal nevus syndrome True False False +Orphanet:35173 X-linked dominant chondrodysplasia punctata True False False +Orphanet:352 Galactosemia True False False +Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis True False False +Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement True False False +Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement True False False +Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement True False False +Orphanet:352328 MEGDEL syndrome True False False +Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome True False False +Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia True False False +Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome True False False +Orphanet:352456 Mitochondrial DNA maintenance syndrome True False False +Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome True False False +Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 True False False +Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency True False False +Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome True False False +Orphanet:352540 Oncogenic osteomalacia True False False +Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency True False False +Orphanet:352577 Bainbridge-Ropers syndrome True False False +Orphanet:352582 Familial infantile myoclonic epilepsy True False False +Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation True False False +Orphanet:352596 Progressive myoclonic epilepsy with dystonia True False False +Orphanet:352629 16q24.1 microdeletion syndrome True False False +Orphanet:352636 Phalangeal microgeodic syndrome True False False +Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity True False False +Orphanet:352649 Brain dopamine-serotonin vesicular transport disease True False False +Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome True False False +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis True False False +Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome True False False +Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion True False False +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F True False False +Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 True False False +Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement True False False +Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies True False False +Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome True False False +Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect True False False +Orphanet:352723 Attenuated Chédiak-Higashi syndrome True False False +Orphanet:352728 Disorder of melanin metabolism True False False +Orphanet:352731 Oculocutaneous albinism type 1 True False False +Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 True False False +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 True False False +Orphanet:352745 Oculocutaneous albinism type 7 True False False +Orphanet:352763 Scleredema True False False +Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 True False False +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination True False False +Orphanet:353220 Familial primary localized cutaneous amyloidosis True False False +Orphanet:353253 Burning mouth syndrome True False False +Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations True False False +Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion True False False +Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency True False False +Orphanet:353298 Roifman syndrome True False False +Orphanet:353308 Pyruvate carboxylase deficiency, infantile type True False False +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type True False False +Orphanet:353320 Pyruvate carboxylase deficiency, benign type True False False +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect True False False +Orphanet:353334 Congenital retinal arteriovenous communication True False False +Orphanet:353344 Idiopathic macular telangiectasia type 1 True False False +Orphanet:353351 Idiopathic macular telangiectasia type 3 True False False +Orphanet:353356 Vasoproliferative tumor of the retina True False False +Orphanet:354 GM1 gangliosidosis True False False +Orphanet:355 Gaucher disease True False False +Orphanet:356 Gerstmann-Straussler-Scheinker syndrome True False False +Orphanet:35612 Nanophthalmos True False False +Orphanet:35656 Coenzyme Q10 deficiency True False False +Orphanet:35664 ALDH18A1-related De Barsy syndrome True False False +Orphanet:35686 Serpiginous choroiditis True False False +Orphanet:35687 Erdheim-Chester disease True False False +Orphanet:35689 Primary lateral sclerosis True False False +Orphanet:356947 3q26q27 microdeletion syndrome True False False +Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis True False False +Orphanet:356961 SLC35A2-CDG True False False +Orphanet:356978 D,L-2-hydroxyglutaric aciduria True False False +Orphanet:35698 Mitochondrial DNA depletion syndrome True False False +Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome True False False +Orphanet:357001 19p13.13 microdeletion syndrome True False False +Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency True False False +Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency True False False +Orphanet:357027 Hereditary retinoblastoma True False False +Orphanet:357034 Non-hereditary retinoblastoma True False False +Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency True False False +Orphanet:357043 Amyotrophic lateral sclerosis type 4 True False False +Orphanet:35705 Neurometabolic disorder due to serine deficiency True False False +Orphanet:357058 Autosomal recessive cutis laxa type 2A True False False +Orphanet:35706 Glutaric acidemia type 3 True False False +Orphanet:357064 Autosomal recessive cutis laxa type 2B True False False +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type True False False +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency True False False +Orphanet:35710 Glucose-galactose malabsorption True False False +Orphanet:357107 Arterial thoracic outlet syndrome True False False +Orphanet:357131 Venous thoracic outlet syndrome True False False +Orphanet:357154 Oral submucous fibrosis True False False +Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome True False False +Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome True False False +Orphanet:357220 Primary essential cutis verticis gyrata True False False +Orphanet:357225 Primary non-essential cutis verticis gyrata True False False +Orphanet:357237 Combined immunodeficiency due to CARD11 deficiency True False False +Orphanet:357329 Combined immunodeficiency due to IL21R deficiency True False False +Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome True False False +Orphanet:35737 Morning glory disc anomaly True False False +Orphanet:358 Gitelman syndrome True False False +Orphanet:35808 Malignant sex cord stromal tumor of ovary True False False +Orphanet:35858 Imerslund-Gräsbeck syndrome True False False +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome True False False +Orphanet:35889 Acute opioid intoxication True False False +Orphanet:359 Pediatric-onset glaucoma of genetic origin True False False +Orphanet:35909 Combined deficiency of factor V and factor VIII True False False +Orphanet:35981 Polymicrogyria True False False +Orphanet:36 Acrocallosal syndrome True False False +Orphanet:360 Glioblastoma True False False +Orphanet:361 Familial glucocorticoid deficiency True False False +Orphanet:36204 Intestinal lymphangiectasia True False False +Orphanet:36234 Bacterial toxic-shock syndrome True False False +Orphanet:36235 Staphylococcal scarlet fever True False False +Orphanet:36236 Staphylococcal scalded skin syndrome True False False +Orphanet:36237 Bullous impetigo True False False +Orphanet:36238 Staphylococcal necrotizing pneumonia True False False +Orphanet:36258 Buerger disease True False False +Orphanet:36273 Gastric linitis plastica True False False +Orphanet:363189 Congenital anomaly of the great veins True False False +Orphanet:363203 Ring chromosome True False False +Orphanet:363245 Genetic progeroid syndrome True False False +Orphanet:363250 Ciliopathy True False False +Orphanet:363294 Genetic syndromic Pierre Robin syndrome True False False +Orphanet:363300 Genetic intractable diarrhea of infancy True False False +Orphanet:363306 Genetic intestinal disease due to fat malabsorption True False False +Orphanet:363314 Genetic intestinal polyposis True False False +Orphanet:363396 High myopia-sensorineural deafness syndrome True False False +Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy True False False +Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome True False False +Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity True False False +Orphanet:363417 Temtamy preaxial brachydactyly syndrome True False False +Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 True False False +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome True False False +Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency True False False +Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome True False False +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy True False False +Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy True False False +Orphanet:363472 Tumor of testis and paratestis True False False +Orphanet:363478 Paratesticular adenocarcinoma True False False +Orphanet:363483 Testicular teratoma True False False +Orphanet:363489 Sex cord-stromal tumor of testis True False False +Orphanet:363494 Non-seminomatous germ cell tumor of testis True False False +Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome True False False +Orphanet:363528 Intellectual disability-strabismus syndrome True False False +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form True False False +Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema True False False +Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion True False False +Orphanet:36355 Bleeding disorder due to P2Y12 defect True False False +Orphanet:363558 New-onset refractory status epilepticus True False False +Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus True False False +Orphanet:363611 CTCF-related neurodevelopmental disorder True False False +Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome True False False +Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 True False False +Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome True False False +Orphanet:363654 X-linked parkinsonism-spasticity syndrome True False False +Orphanet:363659 20q11.2 microduplication syndrome True False False +Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome True False False +Orphanet:36367 Distal deletion 1q True False False +Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia True False False +Orphanet:363680 2p13.2 microdeletion syndrome True False False +Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome True False False +Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome True False False +Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion True False False +Orphanet:363705 Craniofaciofrontodigital syndrome True False False +Orphanet:363710 Spinocerebellar ataxia type 37 True False False +Orphanet:363717 Alexander disease type I True False False +Orphanet:363722 Alexander disease type II True False False +Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia True False False +Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome True False False +Orphanet:363746 Balint syndrome True False False +Orphanet:36382 Familial cervical artery dissection True False False +Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy True False False +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 True False False +Orphanet:36387 Generalized epilepsy with febrile seizures-plus True False False +Orphanet:36388 Paraneoplastic neurologic syndrome True False False +Orphanet:363958 17q21.31 microdeletion syndrome True False False +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation True False False +Orphanet:363969 Autosomal recessive cerebral atrophy True False False +Orphanet:36397 Adiposis dolorosa True False False +Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia True False False +Orphanet:363976 Giant cell tumor of bone True False False +Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 True False False +Orphanet:363989 Familial benign flecked retina True False False +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome True False False +Orphanet:363999 Non-immune hydrops fetalis True False False +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency True False False +Orphanet:364013 Immune hydrops fetalis True False False +Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations True False False +Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood True False False +Orphanet:364039 Hydroa vacciniforme-like lymphoma True False False +Orphanet:364043 ALK-positive large B-cell lymphoma True False False +Orphanet:364055 Severe early-childhood-onset retinal dystrophy True False False +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy True False False +Orphanet:36412 Hypocomplementemic urticarial vasculitis True False False +Orphanet:364198 Bipartite talus True False False +Orphanet:36426 Stevens-Johnson syndrome True False False +Orphanet:364526 Primary bone dysplasia True False False +Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments True False False +Orphanet:364536 Primary bone dysplasia with micromelia True False False +Orphanet:364541 Otopalatodigital syndrome spectrum disorder True False False +Orphanet:364559 Dysostosis True False False +Orphanet:364568 Dysostosis with limb anomaly as a major feature True False False +Orphanet:364571 Dysostosis with limb and face anomalies as a major feature True False False +Orphanet:364574 Acrofacial dysostosis True False False +Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome True False False +Orphanet:364803 Rare bone disease related to a common gene or pathway defect True False False +Orphanet:364817 Aggrecan-related bone disorder True False False +Orphanet:364820 TRPV4-related bone disorder True False False +Orphanet:365 Glycogen storage disease due to acid maltase deficiency True False False +Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency True False False +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency True False False +Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency True False False +Orphanet:36899 Myoclonus-dystonia syndrome True False False +Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency True False False +Orphanet:36913 Autoimmune hypoparathyroidism True False False +Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome True False False +Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 True False False +Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome True False False +Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome True False False +Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome True False False +Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C True False False +Orphanet:369873 Obesity due to SIM1 deficiency True False False +Orphanet:369881 2p21 microdeletion syndrome without cystinuria True False False +Orphanet:369886 Homozygous 2p21 microdeletion syndrome True False False +Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency True False False +Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies True False False +Orphanet:369913 Combined oxidative phosphorylation defect type 17 True False False +Orphanet:369920 Pontocerebellar hypoplasia type 9 True False False +Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome True False False +Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome True False False +Orphanet:369942 CADDS True False False +Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome True False False +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ True False False +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX True False False +Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome True False False +Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome True False False +Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome True False False +Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures True False False +Orphanet:37 Acrodermatitis enteropathica True False False +Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency True False False +Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses True False False +Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome True False False +Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type True False False +Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome True False False +Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation True False False +Orphanet:370034 Familial syringomyelia True False False +Orphanet:370039 Angora hair nevus True False False +Orphanet:370046 Didymosis aplasticosebacea True False False +Orphanet:370052 SCALP syndrome True False False +Orphanet:370059 NEVADA syndrome True False False +Orphanet:370068 Fetal anticonvulsant syndrome True False False +Orphanet:370076 Fetal carbamazepine syndrome True False False +Orphanet:370079 Proximal 16p11.2 microduplication syndrome True False False +Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome True False False +Orphanet:370091 Oculocutaneous albinism type 5 True False False +Orphanet:370097 Oculocutaneous albinism type 6 True False False +Orphanet:370103 Primary dystonia, DYT17 type True False False +Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation True False False +Orphanet:370109 Ataxia-telangiectasia variant True False False +Orphanet:370127 Medich giant platelet syndrome True False False +Orphanet:370131 White platelet syndrome True False False +Orphanet:370334 Extraskeletal Ewing sarcoma True False False +Orphanet:370348 Peripheral primitive neuroectodermal tumor True False False +Orphanet:370396 Small cell carcinoma of the ovary True False False +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome True False False +Orphanet:370921 STT3A-CDG True False False +Orphanet:370924 STT3B-CDG True False False +Orphanet:370927 SSR4-CDG True False False +Orphanet:370930 XYLT1-CDG True False False +Orphanet:370933 GM3 synthase deficiency True False False +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome True False False +Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy True False False +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement True False False +Orphanet:370968 Congenital muscular dystrophy with intellectual disability True False False +Orphanet:370980 Congenital muscular dystrophy without intellectual disability True False False +Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy True False False +Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency True False False +Orphanet:371007 Congenital muscular dystrophy with hyperlaxity True False False +Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan True False False +Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan True False False +Orphanet:371047 Congenital disorder of glycosylation with neurological involvement True False False +Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature True False False +Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement True False False +Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature True False False +Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement True False False +Orphanet:371195 Congenital disorder of glycosylation-related bone disorder True False False +Orphanet:371200 Congenital disorder of glycosylation with skin involvement True False False +Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature True False False +Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature True False False +Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly True False False +Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome True False False +Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum True False False +Orphanet:371433 Genetic periodic paralysis True False False +Orphanet:371436 Genetic neurovascular malformation True False False +Orphanet:371442 Sphingolipidosis with epilepsy True False False +Orphanet:371445 Genetic syndromic esophageal malformation True False False +Orphanet:371861 Genetic hyperaldosteronism True False False +Orphanet:37202 Interstitial cystitis True False False +Orphanet:373 Simpson-Golabi-Behmel syndrome True False False +Orphanet:375 Anti-glomerular basement membrane disease True False False +Orphanet:37553 Andersen-Tawil syndrome True False False +Orphanet:37559 Acquired kinky hair syndrome True False False +Orphanet:376 Gordon syndrome True False False +Orphanet:37612 Episodic ataxia type 1 True False False +Orphanet:376724 Generalized isolated dystonia True False False +Orphanet:377 Gorlin syndrome True False False +Orphanet:37748 Schnitzler syndrome True False False +Orphanet:377788 disease True False False +Orphanet:377789 malformation syndrome True False False +Orphanet:377790 biological anomaly True False False +Orphanet:377791 morphological anomaly True False False +Orphanet:377792 clinical syndrome True False False +Orphanet:377793 particular clinical situation in a disease or syndrome True False False +Orphanet:379 Chronic granulomatous disease True False False +Orphanet:38 Acrokeratoelastoidosis of Costa True False False +Orphanet:380 Greig cephalopolysyndactyly syndrome True False False +Orphanet:381 Griscelli syndrome True False False +Orphanet:382 Guanidinoacetate methyltransferase deficiency True False False +Orphanet:384 Huriez syndrome True False False +Orphanet:385 Neurodegeneration with brain iron accumulation True False False +Orphanet:386 Hepatic cystic hamartoma True False False +Orphanet:388 Hirschsprung disease True False False +Orphanet:38874 Dihydropyrimidinuria True False False +Orphanet:389 Langerhans cell histiocytosis True False False +Orphanet:39 Acromelanosis True False False +Orphanet:390 Histoplasmosis True False False +Orphanet:39041 Omenn syndrome True False False +Orphanet:39044 Uveal melanoma True False False +Orphanet:391 Classic Hodgkin lymphoma True False False +Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome True False False +Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency True False False +Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression True False False +Orphanet:391320 East Texas bleeding disorder True False False +Orphanet:391327 X-linked calvarial hyperostosis True False False +Orphanet:391330 X-linked osteoporosis with fractures True False False +Orphanet:391343 Fatal post-viral neurodegenerative disorder True False False +Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome True False False +Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 True False False +Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome True False False +Orphanet:391372 FOXP1 Syndrome True False False +Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome True False False +Orphanet:391381 Disorder of asparagine metabolism True False False +Orphanet:391384 Familial episodic pain syndrome True False False +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement True False False +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement True False False +Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 True False False +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome True False False +Orphanet:391411 Atypical juvenile parkinsonism True False False +Orphanet:391417 HSD10 disease True False False +Orphanet:391428 HSD10 disease, infantile type True False False +Orphanet:391457 HSD10 disease, neonatal type True False False +Orphanet:391474 Frontorhiny True False False +Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome True False False +Orphanet:391490 Adult-onset myasthenia gravis True False False +Orphanet:391497 Juvenile myasthenia gravis True False False +Orphanet:391504 Transient neonatal myasthenia gravis True False False +Orphanet:391641 Feingold syndrome type 1 True False False +Orphanet:391646 Feingold syndrome type 2 True False False +Orphanet:391651 Glomus tumor True False False +Orphanet:391665 Homozygous familial hypercholesterolemia True False False +Orphanet:391673 Necrotizing enterocolitis True False False +Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome True False False +Orphanet:391711 Persistent combined dystonia True False False +Orphanet:391723 Mucinous adenocarcinoma of the appendix True False False +Orphanet:391799 Rare genetic dystonia True False False +Orphanet:392 Holt-Oram syndrome True False False +Orphanet:393 46,XX testicular difference of sex development True False False +Orphanet:394 Homocystinuria due to cystathionine beta-synthase deficiency True False False +Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type True False False +Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type True False False +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency True False False +Orphanet:396 Chronic hiccup True False False +Orphanet:397 Giant cell arteritis True False False +Orphanet:397587 Deep dermatophytosis True False False +Orphanet:397590 Silver-Russell syndrome due to a point mutation True False False +Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency True False False +Orphanet:397596 Activated PI3K-delta syndrome True False False +Orphanet:397606 PrP systemic amyloidosis True False False +Orphanet:397612 Macrocephaly-developmental delay syndrome True False False +Orphanet:397615 Obesity due to CEP19 deficiency True False False +Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome True False False +Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome True False False +Orphanet:397685 Familial hyperprolactinemia True False False +Orphanet:397692 Hereditary isolated aplastic anemia True False False +Orphanet:397695 3q27.3 microdeletion syndrome True False False +Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome True False False +Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy True False False +Orphanet:397725 COASY protein-associated neurodegeneration True False False +Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U True False False +Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome True False False +Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy True False False +Orphanet:397755 Periodic paralysis with transient compartment-like syndrome True False False +Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies True False False +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency True False False +Orphanet:397922 Ferro-cerebro-cutaneous syndrome True False False +Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome True False False +Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome True False False +Orphanet:397937 Polyglucosan body myopathy type 1 True False False +Orphanet:397941 MAN1B1-CDG True False False +Orphanet:397946 Autosomal spastic paraplegia type 58 True False False +Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome True False False +Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency True False False +Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency True False False +Orphanet:397968 Charcot-Marie-Tooth disease type 2R True False False +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome True False False +Orphanet:398043 Malignant tumor of penis True False False +Orphanet:398053 Adenocarcinoma of the penis True False False +Orphanet:398058 Squamous cell carcinoma of the penis True False False +Orphanet:398063 Refractory celiac disease True False False +Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome True False False +Orphanet:398073 Prader-Willi-like syndrome True False False +Orphanet:398079 SIM1-related Prader-Willi-like syndrome True False False +Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin True False False +Orphanet:398091 Secondary neonatal autoimmune disease True False False +Orphanet:398097 Neonatal antiphospholipid syndrome True False False +Orphanet:398109 Neonatal autoimmune hemolytic anemia True False False +Orphanet:398117 Neonatal dermatomyositis True False False +Orphanet:39812 Graft versus host disease True False False +Orphanet:398124 Neonatal lupus erythematosus True False False +Orphanet:398127 Neonatal scleroderma True False False +Orphanet:398147 Persistent idiopathic facial pain True False False +Orphanet:398156 Oculoauriculofrontonasal syndrome True False False +Orphanet:398166 Focal facial dermal dysplasia True False False +Orphanet:398173 Focal facial dermal dysplasia type II True False False +Orphanet:398189 Focal facial dermal dysplasia type IV True False False +Orphanet:398934 Malignant epithelial tumor of ovary True False False +Orphanet:398940 Malignant non-epithelial tumor of ovary True False False +Orphanet:398961 Mucinous adenocarcinoma of ovary True False False +Orphanet:398971 Clear cell adenocarcinoma of the ovary True False False +Orphanet:398987 Malignant teratoma of ovary True False False +Orphanet:399 Huntington disease True False False +Orphanet:399058 Alpha-B crystallin-related late-onset myopathy True False False +Orphanet:399081 KLHL9-related early-onset distal myopathy True False False +Orphanet:399086 Finnish upper limb-onset distal myopathy True False False +Orphanet:399096 Distal anoctaminopathy True False False +Orphanet:399103 Distal nebulin myopathy True False False +Orphanet:399158 Osteonecrosis True False False +Orphanet:399164 Avascular necrosis True False False +Orphanet:399169 Secondary avascular necrosis True False False +Orphanet:399175 Traumatic avascular necrosis True False False +Orphanet:399180 Secondary non-traumatic avascular necrosis True False False +Orphanet:399185 Rare hereditary disease with avascular necrosis True False False +Orphanet:399293 Osteonecrosis of the jaw True False False +Orphanet:399302 Primary avascular necrosis True False False +Orphanet:399307 Idiopathic avascular necrosis True False False +Orphanet:399319 Osteochondrosis True False False +Orphanet:399329 Epiphysiolysis of the hip True False False +Orphanet:399380 Osteonecrosis of genetic origin True False False +Orphanet:399388 Avascular necrosis of genetic origin True False False +Orphanet:399391 Osteochondrosis of genetic origin True False False +Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder True False False +Orphanet:399584 Rare male infertility due to adrenal disorder True False False +Orphanet:399685 Rare male infertility due to testicular endocrine disorder True False False +Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder True False False +Orphanet:399771 Male infertility due to sperm disorder True False False +Orphanet:399775 Male infertility with spermatogenesis disorder True False False +Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation True False False +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation True False False +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation True False False +Orphanet:399813 Male infertility due to sperm motility disorder True False False +Orphanet:399824 Rare disorder with obstructive azoospermia True False False +Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder True False False +Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism True False False +Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism True False False +Orphanet:399849 Rare female infertility due to an adrenal disorder True False False +Orphanet:399853 Rare female infertility due to an anomaly of ovarian function True False False +Orphanet:399877 Rare female infertility due to gonadal dysgenesis True False False +Orphanet:399882 Rare female infertility due to an implantation defect True False False +Orphanet:399980 Rare genetic male infertility True False False +Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin True False False +Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin True False False +Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin True False False +Orphanet:40 Acromesomelic dysplasia, Maroteaux type True False False +Orphanet:400 Cystic echinococcosis True False False +Orphanet:400003 Rare genetic disorder with obstructive azoospermia True False False +Orphanet:400008 Rare genetic female infertility True False False +Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin True False False +Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin True False False +Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin True False False +Orphanet:400025 Female infertility due to an implantation defect of genetic origin True False False +Orphanet:401 Hymenolepiasis True False False +Orphanet:401764 Pancytopenia-developmental delay syndrome True False False +Orphanet:401768 Proximal myopathy with extrapyramidal signs True False False +Orphanet:401777 Optic atrophy-intellectual disability syndrome True False False +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 True False False +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 True False False +Orphanet:401795 Autosomal recessive spastic paraplegia type 59 True False False +Orphanet:401800 Autosomal recessive spastic paraplegia type 60 True False False +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 True False False +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 True False False +Orphanet:401815 Autosomal recessive spastic paraplegia type 66 True False False +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 True False False +Orphanet:401830 Autosomal recessive spastic paraplegia type 69 True False False +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 True False False +Orphanet:401840 Autosomal recessive spastic paraplegia type 71 True False False +Orphanet:401849 Autosomal spastic paraplegia type 72 True False False +Orphanet:401854 Lipoic acid biosynthesis defect True False False +Orphanet:401859 Lipoic acid synthetase deficiency True False False +Orphanet:401862 Lipoyl transferase 1 deficiency True False False +Orphanet:401866 Childhood-onset spasticity with hyperglycinemia True False False +Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 True False False +Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 True False False +Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions True False False +Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis True False False +Orphanet:401920 Fibrolamellar hepatocellular carcinoma True False False +Orphanet:401923 9q31.1q31.3 microdeletion syndrome True False False +Orphanet:401935 14q24.1q24.3 microdeletion syndrome True False False +Orphanet:401942 Familial median cleft of the upper and lower lips True False False +Orphanet:401945 Moyamoya disease with early-onset achalasia True False False +Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency True False False +Orphanet:401953 Episodic ataxia with slurred speech True False False +Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome True False False +Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons True False False +Orphanet:401973 MEND syndrome True False False +Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type True False False +Orphanet:401986 1p31p32 microdeletion syndrome True False False +Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum True False False +Orphanet:401996 Karyomegalic interstitial nephritis True False False +Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering True False False +Orphanet:402007 Lichen myxedematosus True False False +Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) True False False +Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) True False False +Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) True False False +Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) True False False +Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations True False False +Orphanet:402029 Primary eosinophilic gastrointestinal disease True False False +Orphanet:402035 Eosinophilic colitis True False False +Orphanet:402041 Autosomal recessive distal renal tubular acidosis True False False +Orphanet:402075 Familial bicuspid aortic valve True False False +Orphanet:402082 Progressive myoclonic epilepsy type 5 True False False +Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly True False False +Orphanet:402823 Hepatitis delta True False False +Orphanet:403 Familial hyperaldosteronism type I True False False +Orphanet:40366 Acitretin/etretinate embryopathy True False False +Orphanet:404 Familial hyperaldosteronism type II True False False +Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome True False False +Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency True False False +Orphanet:404443 Tatton-Brown-Rahman syndrome True False False +Orphanet:404448 ADNP syndrome True False False +Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome True False False +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome True False False +Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome True False False +Orphanet:404466 Female infertility due to zona pellucida defect True False False +Orphanet:404469 Rare female infertility due to oocyte maturation defect True False False +Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome True False False +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome True False False +Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome True False False +Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency True False False +Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency True False False +Orphanet:404507 Chondromyxoid fibroma True False False +Orphanet:404511 Clear cell papillary renal cell carcinoma True False False +Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma True False False +Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 True False False +Orphanet:404538 X-linked distal hereditary motor neuropathy True False False +Orphanet:404546 DITRA True False False +Orphanet:404553 Vasculitis due to ADA2 deficiency True False False +Orphanet:404560 Familial atypical multiple mole melanoma syndrome True False False +Orphanet:404568 Dysostosis of genetic origin True False False +Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature True False False +Orphanet:404584 Rare genetic bone development disorder True False False +Orphanet:405 Familial hypocalciuric hypercalcemia True False False +Orphanet:407 Glycine encephalopathy True False False +Orphanet:408 Isolated glycerol kinase deficiency True False False +Orphanet:409 Hyperkeratosis lenticularis perstans True False False +Orphanet:40923 Eales disease True False False +Orphanet:41 Dyschromatosis symmetrica hereditaria True False False +Orphanet:411493 Pontocerebellar hypoplasia type 10 True False False +Orphanet:411501 Williams-Campbell syndrome True False False +Orphanet:411511 Angelman syndrome due to a point mutation True False False +Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 True False False +Orphanet:411527 Central retinal vein occlusion True False False +Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity True False False +Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity True False False +Orphanet:411590 Wolfram-like syndrome True False False +Orphanet:411593 Insulin autoimmune syndrome True False False +Orphanet:411602 Hereditary late-onset Parkinson disease True False False +Orphanet:411629 Infantile nephropathic cystinosis True False False +Orphanet:411634 Juvenile nephropathic cystinosis True False False +Orphanet:411641 Ocular cystinosis True False False +Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia True False False +Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection True False False +Orphanet:411709 Renal agenesis True False False +Orphanet:411712 Maternal riboflavin deficiency True False False +Orphanet:411777 Generalized eruptive keratoacanthoma True False False +Orphanet:411788 Familial isolated trichomegaly True False False +Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome True False False +Orphanet:412 Dysbetalipoproteinemia True False False +Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome True False False +Orphanet:412035 13q12.3 microdeletion syndrome True False False +Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency True False False +Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments True False False +Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome True False False +Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency True False False +Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency True False False +Orphanet:412206 Primary failure of tooth eruption True False False +Orphanet:412217 Dystonia-aphonia syndrome True False False +Orphanet:414 Gyrate atrophy of choroid and retina True False False +Orphanet:414726 Genetic facial cleft True False False +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome True False False +Orphanet:415286 Bilirubin encephalopathy True False False +Orphanet:416 Primary hyperoxaluria True False False +Orphanet:417 Neonatal severe primary hyperparathyroidism True False False +Orphanet:41751 Bietti crystalline dystrophy True False False +Orphanet:418 Congenital adrenal hyperplasia True False False +Orphanet:418945 Carcinoma of esophagus, salivary gland type True False False +Orphanet:418951 Undifferentiated carcinoma of esophagus True False False +Orphanet:418959 Squamous cell carcinoma of the stomach True False False +Orphanet:419 Hyperprolinemia type 1 True False False +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency True False False +Orphanet:420179 Malan overgrowth syndrome True False False +Orphanet:420259 Secondary pulmonary alveolar proteinosis True False False +Orphanet:420402 Semicircular canal dehiscence syndrome True False False +Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset True False False +Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement True False False +Orphanet:420492 Adult-onset cervical dystonia, DYT23 type True False False +Orphanet:420556 Visual snow syndrome True False False +Orphanet:420561 Temple-Baraitser syndrome True False False +Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency True False False +Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency True False False +Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome True False False +Orphanet:420611 Transient myeloproliferative syndrome True False False +Orphanet:42062 Iminoglycinuria True False False +Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome True False False +Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency True False False +Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency True False False +Orphanet:420728 Combined oxidative phosphorylation defect type 20 True False False +Orphanet:420733 Combined oxidative phosphorylation defect type 21 True False False +Orphanet:420741 RIDDLE syndrome True False False +Orphanet:420755 Rare genetic odontal or periodontal disorder True False False +Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea True False False +Orphanet:420794 Cono-spondylar dysplasia True False False +Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension True False False +Orphanet:422526 Hereditary clear cell renal cell carcinoma True False False +Orphanet:423 Malignant hyperthermia of anesthesia True False False +Orphanet:423275 Spinocerebellar ataxia type 40 True False False +Orphanet:423296 Spinocerebellar ataxia type 38 True False False +Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome True False False +Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency True False False +Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome True False False +Orphanet:423461 Mucolipidosis type III alpha/beta True False False +Orphanet:423470 Mucolipidosis type III gamma True False False +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome True False False +Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum True False False +Orphanet:423662 Rare autonomic nervous system disorder True False False +Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect True False False +Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy True False False +Orphanet:423717 Cutaneous larva migrans True False False +Orphanet:423771 Rare carcinoma of stomach True False False +Orphanet:423776 Hereditary gastric cancer True False False +Orphanet:423786 Undifferentiated carcinoma of stomach True False False +Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome True False False +Orphanet:423968 Squamous cell carcinoma of the small intestine True False False +Orphanet:423994 Squamous cell carcinoma of the colon True False False +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor True False False +Orphanet:424002 Squamous cell carcinoma of the rectum True False False +Orphanet:424016 Adenocarcinoma of the anal canal True False False +Orphanet:424019 Squamous cell carcinoma of the anal canal True False False +Orphanet:424027 Progressive myoclonic epilepsy type 8 True False False +Orphanet:424033 Rare epithelial tumor of pancreas True False False +Orphanet:424039 Squamous cell carcinoma of pancreas True False False +Orphanet:424046 Acinar cell carcinoma of pancreas True False False +Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas True False False +Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas True False False +Orphanet:424065 Solid pseudopapillary carcinoma of pancreas True False False +Orphanet:424073 Serous cystadenocarcinoma of pancreas True False False +Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas True False False +Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome True False False +Orphanet:424107 Congenital myopathy with myasthenic-like onset True False False +Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy True False False +Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 True False False +Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract True False False +Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract True False False +Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract True False False +Orphanet:424982 Biliary cystadenocarcinoma True False False +Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract True False False +Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract True False False +Orphanet:425 Apolipoprotein A-I deficiency True False False +Orphanet:425003 Inherited digestive cancer-predisposing syndrome True False False +Orphanet:425120 STING-associated vasculopathy with onset in infancy True False False +Orphanet:42642 PFAPA syndrome True False False +Orphanet:42665 Tietz syndrome True False False +Orphanet:427 Familial hypoaldosteronism True False False +Orphanet:42775 PHACE syndrome True False False +Orphanet:428 Autosomal dominant hypocalcemia True False False +Orphanet:429 Hypochondroplasia True False False +Orphanet:43 X-linked adrenoleukodystrophy True False False +Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome True False False +Orphanet:431149 Combined immunodeficiency due to OX40 deficiency True False False +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency True False False +Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection True False False +Orphanet:43116 Serotonin syndrome True False False +Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection True False False +Orphanet:43117 Acute tricyclic antidepressant poisoning True False False +Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect True False False +Orphanet:431255 Scapuloperoneal spinal muscular atrophy True False False +Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies True False False +Orphanet:431272 X-linked scapuloperoneal muscular dystrophy True False False +Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder True False False +Orphanet:431329 Autosomal recessive spastic paraplegia type 57 True False False +Orphanet:431341 Patent urachus True False False +Orphanet:431344 Urachal sinus True False False +Orphanet:431347 Urachal diverticulum True False False +Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis True False False +Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency True False False +Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism True False False +Orphanet:43393 Lambert-Eaton myasthenic syndrome True False False +Orphanet:434179 Orofaciodigital syndrome type 14 True False False +Orphanet:434786 Rare genetic autonomic nervous system disorder True False False +Orphanet:434809 Syndrome with woolly hair True False False +Orphanet:435329 Familial ossifying fibroma True False False +Orphanet:435372 Anterior urethral valve True False False +Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y True False False +Orphanet:435438 Progressive myoclonic epilepsy type 7 True False False +Orphanet:435554 Genetic precocious puberty True False False +Orphanet:435561 Rare precocious puberty in female True False False +Orphanet:435564 Genetic precocious puberty in female True False False +Orphanet:435603 Genetic otorhinolaryngological malformation True False False +Orphanet:435606 Genetic nose and cavum anomaly True False False +Orphanet:435609 Genetic larynx anomaly True False False +Orphanet:435612 Genetic tracheal anomaly True False False +Orphanet:435628 Keppen-Lubinsky syndrome True False False +Orphanet:435638 3p25.3 microdeletion syndrome True False False +Orphanet:435651 CIDEC-related familial partial lipodystrophy True False False +Orphanet:435660 LIPE-related familial partial lipodystrophy True False False +Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome True False False +Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation True False False +Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome True False False +Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome True False False +Orphanet:435934 COG2-CDG True False False +Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome True False False +Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome True False False +Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome True False False +Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D True False False +Orphanet:436 Hypophosphatasia True False False +Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome True False False +Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome True False False +Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome True False False +Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome True False False +Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency True False False +Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome True False False +Orphanet:436169 Thrombomodulin-related bleeding disorder True False False +Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome True False False +Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome True False False +Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease True False False +Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome True False False +Orphanet:436252 Combined immunodeficiency-enteropathy spectrum True False False +Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy True False False +Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa True False False +Orphanet:437 Hypophosphatemic rickets True False False +Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity True False False +Orphanet:438072 Disorder of keton body transport True False False +Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency True False False +Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy True False False +Orphanet:438117 Steel syndrome True False False +Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome True False False +Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease True False False +Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency True False False +Orphanet:438207 Severe autosomal recessive macrothrombocytopenia True False False +Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome True False False +Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation True False False +Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus True False False +Orphanet:438274 GCGR-related hyperglucagonemia True False False +Orphanet:438279 Human infection by orthopoxvirus True False False +Orphanet:439 Isolated right ventricular hypoplasia True False False +Orphanet:439167 Placental insufficiency True False False +Orphanet:439175 Pediatric arterial ischemic stroke True False False +Orphanet:439196 Zinc-responsive necrolytic acral erythema True False False +Orphanet:439202 Non-recovering obstetric brachial plexus lesion True False False +Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome True False False +Orphanet:439218 KCNQ2-related epileptic encephalopathy True False False +Orphanet:439224 ALECT2 amyloidosis True False False +Orphanet:439232 AApoAIV amyloidosis True False False +Orphanet:439254 ITM2B amyloidosis True False False +Orphanet:439729 Cutaneous polyarteritis nodosa True False False +Orphanet:439737 Primary polyarteritis nodosa True False False +Orphanet:439746 Secondary polyarteritis nodosa True False False +Orphanet:439755 Single-organ polyarteritis nodosa True False False +Orphanet:439762 Systemic polyarteritis nodosa True False False +Orphanet:439822 PDE4D haploinsufficiency syndrome True False False +Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease True False False +Orphanet:439881 Plastic bronchitis True False False +Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome True False False +Orphanet:44 Neonatal adrenoleukodystrophy True False False +Orphanet:440221 Congenital oculomotor nerve palsy True False False +Orphanet:440233 Congenital abducens nerve palsy True False False +Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome True False False +Orphanet:440368 Necrotizing soft tissue infection True False False +Orphanet:440392 Interstitial lung disease due to SP-C deficiency True False False +Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency True False False +Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency True False False +Orphanet:440437 Familial colorectal cancer Type X True False False +Orphanet:440701 Disorders of pentose/polyol metabolism True False False +Orphanet:440706 Ribose-5-P isomerase deficiency True False False +Orphanet:440713 Isolated sedoheptulokinase deficiency True False False +Orphanet:440724 Extensive peripapillary myelinated nerve fibers True False False +Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium True False False +Orphanet:440731 L-ferritin deficiency True False False +Orphanet:440987 Isolated agenesis of gallbladder True False False +Orphanet:441 Pure autonomic failure True False False +Orphanet:441434 Syndromic hereditary optic neuropathy True False False +Orphanet:441447 Early-onset posterior subcapsular cataract True False False +Orphanet:441452 Early-onset lamellar cataract True False False +Orphanet:442 Congenital hypothyroidism True False False +Orphanet:442582 AH amyloidosis True False False +Orphanet:442835 Non-specific early-onset epileptic encephalopathy True False False +Orphanet:443057 Sporadic porphyria cutanea tarda True False False +Orphanet:443062 Familial porphyria cutanea tarda True False False +Orphanet:443070 Hemicrania continua True False False +Orphanet:443073 Charcot-Marie-Tooth disease type 2S True False False +Orphanet:443079 Central serous chorioretinopathy True False False +Orphanet:443084 Baroreflex failure True False False +Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency True False False +Orphanet:443095 Hyperinsulinemic hypoglycaemia True False False +Orphanet:443098 Hyperostosis cranialis interna True False False +Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome True False False +Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production True False False +Orphanet:443162 NDE1-related microhydranencephaly True False False +Orphanet:443167 NUT midline carcinoma True False False +Orphanet:443173 Postpartum psychosis True False False +Orphanet:443180 Spontaneous intracranial hypotension True False False +Orphanet:443192 Classic stiff person syndrome True False False +Orphanet:443197 X-linked erythropoietic protoporphyria True False False +Orphanet:443227 Paratyphoid fever True False False +Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency True False False +Orphanet:443291 HIV-associated cancer True False False +Orphanet:443804 Focal stiff limb syndrome True False False +Orphanet:443811 PGM3-CDG True False False +Orphanet:443909 Hereditary nonpolyposis colon cancer True False False +Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 True False False +Orphanet:443988 Ventriculomegaly-cystic kidney disease True False False +Orphanet:443995 Mandibulofacial dysostosis with alopecia True False False +Orphanet:444 Marie Unna hereditary hypotrichosis True False False +Orphanet:444002 11q22.2q22.3 microdeletion syndrome True False False +Orphanet:444013 Combined oxidative phosphorylation defect type 23 True False False +Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome True False False +Orphanet:444051 20q11.2 microdeletion syndrome True False False +Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome True False False +Orphanet:444072 Cerebellar-facial-dental syndrome True False False +Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome True False False +Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome True False False +Orphanet:444099 Autosomal dominant spastic paraplegia type 73 True False False +Orphanet:444116 Hereditary amyloidosis True False False +Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome True False False +Orphanet:444316 Idiopathic phalangeal acro-osteolysis True False False +Orphanet:444458 Combined oxidative phosphorylation defect type 24 True False False +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome True False False +Orphanet:444490 Familial chylomicronemia syndrome True False False +Orphanet:444916 Pseudohypoaldosteronism True False False +Orphanet:445018 Combined immunodeficiency due to LRBA deficiency True False False +Orphanet:445038 3-methylglutaconic aciduria type 7 True False False +Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome True False False +Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency True False False +Orphanet:445197 Secondary vasculitis True False False +Orphanet:446 Neonatal hemochromatosis True False False +Orphanet:447 Paroxysmal nocturnal hemoglobinuria True False False +Orphanet:447731 NIK deficiency True False False +Orphanet:447737 Combined immunodeficiency due to DOCK2 deficiency True False False +Orphanet:447740 Susceptibility to localized juvenile periodontitis True False False +Orphanet:447753 Autosomal dominant spastic paraplegia type 9A True False False +Orphanet:447757 Autosomal dominant spastic paraplegia type 9B True False False +Orphanet:447760 Autosomal recessive spastic paraplegia type 9B True False False +Orphanet:447764 IgG4-related sclerosing cholangitis True False False +Orphanet:447774 Secondary sclerosing cholangitis True False False +Orphanet:447777 Keratocystic odontogenic tumor True False False +Orphanet:447784 Mitochondrial pyruvate carrier deficiency True False False +Orphanet:447788 Cerebral visual impairment True False False +Orphanet:447795 Lipoyl transferase 2 deficiency True False False +Orphanet:447874 Biological anomaly without phenotypic characterization True False False +Orphanet:447877 Polymerase proofreading-related adenomatous polyposis True False False +Orphanet:447881 Idiopathic dropped head syndrome True False False +Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome True False False +Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome True False False +Orphanet:447954 Combined oxidative phosphorylation defect type 25 True False False +Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome True False False +Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V True False False +Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome True False False +Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy True False False +Orphanet:447980 19p13.3 microduplication syndrome True False False +Orphanet:447985 Partial duplication of the short arm of chromosome 19 True False False +Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome True False False +Orphanet:448 Hemophilia True False False +Orphanet:448010 CAD-CDG True False False +Orphanet:448237 Zika virus disease True False False +Orphanet:448242 Autosomal recessive brachyolmia True False False +Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome True False False +Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma True False False +Orphanet:448267 Regressive spondylometaphyseal dysplasia True False False +Orphanet:448270 Ectopia cordis True False False +Orphanet:448426 Genetic primary orthostatic hypotension True False False +Orphanet:44890 Gastrointestinal stromal tumor True False False +Orphanet:449 Hepatoblastoma True False False +Orphanet:449266 Pleural empyema True False False +Orphanet:449280 Scedosporiosis True False False +Orphanet:449285 Snakebite envenomation True False False +Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers True False False +Orphanet:449395 IgG4-related kidney disease True False False +Orphanet:449400 IgG4-related aortitis True False False +Orphanet:449427 IgG4-related pachymeningitis True False False +Orphanet:449432 IgG4-related submandibular gland disease True False False +Orphanet:449563 IgG4-related ophthalmic disease True False False +Orphanet:449566 Eosinophilic angiocentric fibrosis True False False +Orphanet:45 Adenosine monophosphate deaminase deficiency True False False +Orphanet:450 Heterotaxia True False False +Orphanet:450322 Polyclonal hyperviscosity syndrome True False False +Orphanet:451602 Primary cutaneous plasmacytosis True False False +Orphanet:451607 Cutaneous pseudolymphoma True False False +Orphanet:451612 Familial congenital nasolacrimal duct obstruction True False False +Orphanet:452 X-linked lissencephaly with abnormal genitalia True False False +Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome True False False +Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation True False False +Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability True False False +Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency True False False +Orphanet:453533 Polyendocrine-polyneuropathy syndrome True False False +Orphanet:45358 Congenital fibrosis of extraocular muscles True False False +Orphanet:454 Acquired ichthyosis True False False +Orphanet:45448 Miyoshi myopathy True False False +Orphanet:45452 Idiopathic neonatal atrial flutter True False False +Orphanet:45453 Incessant infant ventricular tachycardia True False False +Orphanet:454700 Acquired Creutzfeldt-Jakob disease True False False +Orphanet:454706 Progressive muscular atrophy True False False +Orphanet:454710 Anti-p200 pemphigoid True False False +Orphanet:454714 Plasma cell leukemia True False False +Orphanet:454718 Holmes-Adie syndrome True False False +Orphanet:454723 Endometrioid carcinoma of ovary True False False +Orphanet:454742 Variably protease-sensitive prionopathy True False False +Orphanet:454745 Kuru True False False +Orphanet:454750 Isolated tracheoesophageal fistula True False False +Orphanet:454821 Pleomorphic salivary gland adenoma True False False +Orphanet:454831 Acute radiation syndrome True False False +Orphanet:454836 Avian influenza True False False +Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis True False False +Orphanet:454887 Corticobasal syndrome True False False +Orphanet:455 Superficial epidermolytic ichthyosis True False False +Orphanet:456298 1p35.2 microdeletion syndrome True False False +Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease True False False +Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome True False False +Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome True False False +Orphanet:456333 Hereditary neuroendocrine tumor of small intestine True False False +Orphanet:456369 Polyglucosan body myopathy type 2 True False False +Orphanet:457 Harlequin ichthyosis True False False +Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance True False False +Orphanet:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy True False False +Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy True False False +Orphanet:457074 Congenital nemaline myopathy True False False +Orphanet:457077 TAFRO syndrome True False False +Orphanet:457083 Isolated splenogonadal fusion True False False +Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency True False False +Orphanet:457095 Actinomycosis True False False +Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome True False False +Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome True False False +Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome True False False +Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome True False False +Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect True False False +Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome True False False +Orphanet:457246 Clear cell sarcoma of kidney True False False +Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome True False False +Orphanet:457265 Progressive myoclonic epilepsy type 9 True False False +Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome True False False +Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome True False False +Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome True False False +Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome True False False +Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome True False False +Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement True False False +Orphanet:457378 Complex lethal osteochondrodysplasia True False False +Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome True False False +Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 True False False +Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome True False False +Orphanet:458718 Idiopathic spontaneous coronary artery dissection True False False +Orphanet:458758 Composite hemangioendothelioma True False False +Orphanet:458763 Retiform hemangioendothelioma True False False +Orphanet:458768 Primary intralymphatic angioendothelioma True False False +Orphanet:458775 Congenital hemangioma True False False +Orphanet:458785 Partially involuting congenital hemangioma True False False +Orphanet:458792 Mixed cystic lymphatic malformation True False False +Orphanet:458798 Spinocerebellar ataxia type 41 True False False +Orphanet:458803 Spinocerebellar ataxia type 42 True False False +Orphanet:458827 Vascular tumor with associated anomalies True False False +Orphanet:458830 Rare capillary malformation with associated anomalies True False False +Orphanet:458833 Common cystic lymphatic malformation True False False +Orphanet:458837 Rare combined vascular malformation True False False +Orphanet:458844 Rare vascular malformation of major vessels True False False +Orphanet:459033 Ataxia-oculomotor apraxia type 4 True False False +Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type True False False +Orphanet:459056 Autosomal recessive spastic paraplegia type 75 True False False +Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome True False False +Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome True False False +Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome True False False +Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency True False False +Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency True False False +Orphanet:459526 Rare genetic capillary malformation True False False +Orphanet:459537 Genetic complex vascular malformation with associated anomalies True False False +Orphanet:459543 Rare genetic vascular tumor True False False +Orphanet:459548 Rare genetic venous malformation True False False +Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome True False False +Orphanet:46 Adenylosuccinate lyase deficiency True False False +Orphanet:46059 Lathosterolosis True False False +Orphanet:461 Recessive X-linked ichthyosis True False False +Orphanet:46135 Primary central nervous system lymphoma True False False +Orphanet:46348 Paroxysmal extreme pain disorder True False False +Orphanet:464 Incontinentia pigmenti True False False +Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome True False False +Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome True False False +Orphanet:464306 DYRK1A-related intellectual disability syndrome True False False +Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation True False False +Orphanet:464318 Verrucous hemangioma True False False +Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome True False False +Orphanet:464329 Kaposiform lymphangiomatosis True False False +Orphanet:464336 BENTA disease True False False +Orphanet:464343 Catastrophic antiphospholipid syndrome True False False +Orphanet:464359 Benign metanephric tumor True False False +Orphanet:464366 NEK9-related lethal skeletal dysplasia True False False +Orphanet:464370 Neonatal alloimmune neutropenia True False False +Orphanet:464440 Primary dystonia, DYT27 type True False False +Orphanet:464443 COG6-CGD True False False +Orphanet:464453 Acquired methemoglobinemia True False False +Orphanet:464458 Paracetamol poisoning True False False +Orphanet:464724 Fever-associated acute infantile liver failure syndrome True False False +Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome True False False +Orphanet:464756 Familial gastric type 1 neuroendocrine tumor True False False +Orphanet:464760 Familial cavitary optic disc anomaly True False False +Orphanet:464764 Immune-mediated acquired neuromuscular junction disease True False False +Orphanet:46484 Oligodendroglial tumor True False False +Orphanet:46485 Superficial pemphigus True False False +Orphanet:46486 Mucous membrane pemphigoid True False False +Orphanet:46487 Epidermolysis bullosa acquisita True False False +Orphanet:46488 Linear IgA dermatosis True False False +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency True False False +Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome True False False +Orphanet:465508 Symptomatic form of HFE-related hemochromatosis True False False +Orphanet:465824 Fetal encasement syndrome True False False +Orphanet:466 Fatal familial insomnia True False False +Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency True False False +Orphanet:466066 Genetic hemoglobinopathy True False False +Orphanet:466084 Genetic otorhinolaryngologic disease True False False +Orphanet:46627 Char syndrome True False False +Orphanet:466650 Exercise-induced malignant hyperthermia True False False +Orphanet:466658 Rare disease with malignant hyperthermia True False False +Orphanet:466670 Cyanide poisoning True False False +Orphanet:466677 Scorpion envenomation True False False +Orphanet:466682 Euthyroid Graves orbitopathy True False False +Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome True False False +Orphanet:466695 Supratip dysplasia True False False +Orphanet:466703 TMEM199-CDG True False False +Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy True False False +Orphanet:466722 Autosomal recessive spastic paraplegia type 77 True False False +Orphanet:466729 Familial patent arterial duct True False False +Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z True False False +Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X True False False +Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect True False False +Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome True False False +Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome True False False +Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect True False False +Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome True False False +Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome True False False +Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy True False False +Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome True False False +Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation True False False +Orphanet:466962 SMARCA4-deficient sarcoma of thorax True False False +Orphanet:467 Non-acquired combined pituitary hormone deficiency True False False +Orphanet:467166 Tubulinopathy-associated dysgyria True False False +Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome True False False +Orphanet:46724 Cerebral arteriovenous malformation True False False +Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome True False False +Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency True False False +Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis True False False +Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene True False False +Orphanet:468661 Autosomal recessive spastic paraplegia type 74 True False False +Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands True False False +Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome True False False +Orphanet:468678 White-Sutton syndrome True False False +Orphanet:468684 CCDC115-CDG True False False +Orphanet:468699 SLC39A8-CDG True False False +Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 True False False +Orphanet:468726 Severe primary trimethylaminuria True False False +Orphanet:469 Hereditary fructose intolerance True False False +Orphanet:47 X-linked agammaglobulinemia True False False +Orphanet:470 Lysinuric protein intolerance True False False +Orphanet:47044 Hereditary papillary renal cell carcinoma True False False +Orphanet:47045 Familial cold urticaria True False False +Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome True False False +Orphanet:47159 Proximal renal tubular acidosis True False False +Orphanet:472 Isosporiasis True False False +Orphanet:474 Jeune syndrome True False False +Orphanet:474347 Rare congenital anomaly of ventricular septum True False False +Orphanet:475 Joubert syndrome True False False +Orphanet:476084 BVES-related limb-girdle muscular dystrophy True False False +Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome True False False +Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome True False False +Orphanet:476102 Hereditary pediatric Behçet-like disease True False False +Orphanet:476109 Axonal hereditary motor and sensory neuropathy True False False +Orphanet:476113 Combined immunodeficiency due to TFRC deficiency True False False +Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy True False False +Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome True False False +Orphanet:47612 Felty syndrome True False False +Orphanet:476123 Intermediate Charcot-Marie-Tooth disease True False False +Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome True False False +Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 True False False +Orphanet:476403 Hypercontractile muscle stiffness syndrome True False False +Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome True False False +Orphanet:477 KID syndrome True False False +Orphanet:477647 Type 1 interferonopathy True False False +Orphanet:477650 Fibroblastic rheumatism True False False +Orphanet:477661 IL21-related infantile inflammatory bowel disease True False False +Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome True False False +Orphanet:477684 Combined oxidative phosphorylation defect type 26 True False False +Orphanet:477738 Pediatric multiple sclerosis True False False +Orphanet:477742 Nodular fasciitis True False False +Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy True False False +Orphanet:477754 Genetic cerebral small vessel disease True False False +Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease True False False +Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy True False False +Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy True False False +Orphanet:477768 Moyamoya angiopathy True False False +Orphanet:477771 Rare disorder with a moyamoya angiopathy True False False +Orphanet:477774 Combined oxidative phosphorylation defect type 27 True False False +Orphanet:477781 Primary condylar hyperplasia True False False +Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder True False False +Orphanet:477794 Syndromic constitutional thrombocytopenia True False False +Orphanet:477797 Isolated constitutional thrombocytopenia True False False +Orphanet:477805 Genetic cardiac malformation True False False +Orphanet:477808 Other genetic dermis disorder True False False +Orphanet:477811 Rare hypercholesterolemia True False False +Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome True False False +Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome True False False +Orphanet:477831 Kosaki overgrowth syndrome True False False +Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency True False False +Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome True False False +Orphanet:478 Kallmann syndrome True False False +Orphanet:478029 Combined oxidative phosphorylation defect type 29 True False False +Orphanet:478042 Combined oxidative phosphorylation defect type 30 True False False +Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome True False False +Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 True False False +Orphanet:48 Congenital bilateral absence of vas deferens True False False +Orphanet:480 Kearns-Sayre syndrome True False False +Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 True False False +Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 True False False +Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis True False False +Orphanet:480501 Choledochal cyst True False False +Orphanet:480506 Primary intrahepatic lithiasis True False False +Orphanet:480512 Idiopathic ductopenia True False False +Orphanet:480520 Caroli syndrome True False False +Orphanet:480524 Idiopathic peliosis hepatis True False False +Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome True False False +Orphanet:480531 Congenital portosystemic shunt True False False +Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis True False False +Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement True False False +Orphanet:480553 Aneurysmal bone cyst True False False +Orphanet:480556 Isolated neonatal sclerosing cholangitis True False False +Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 True False False +Orphanet:480701 Facial diplegia with paresthesias True False False +Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis True False False +Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome True False False +Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability True False False +Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome True False False +Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome True False False +Orphanet:481 Kennedy disease True False False +Orphanet:48104 Pyoderma gangrenosum True False False +Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy True False False +Orphanet:481508 Gastroenteric neuroendocrine neoplasm True False False +Orphanet:48162 Lewis-Sumner syndrome True False False +Orphanet:481662 Familial Chilblain lupus True False False +Orphanet:481665 USP18 deficiency True False False +Orphanet:481671 Type 1 interferonopathy of childhood True False False +Orphanet:481771 Genetic alopecia True False False +Orphanet:481986 Familial schizencephaly True False False +Orphanet:482 Kimura disease True False False +Orphanet:482072 HTRA1-related cerebral small vessel disease True False False +Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease True False False +Orphanet:482092 Rare idiopathic macular telangiectasia True False False +Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy True False False +Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome True False False +Orphanet:483 Congenital high-molecular-weight kininogen deficiency True False False +Orphanet:48372 Nodular regenerative hyperplasia of the liver True False False +Orphanet:48377 Subcorneal pustular dermatosis True False False +Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome True False False +Orphanet:48435 Postinfectious vasculitis True False False +Orphanet:48471 Lissencephaly True False False +Orphanet:485 Kniest dysplasia True False False +Orphanet:485275 Acquired schizencephaly True False False +Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome True False False +Orphanet:485358 Propylthiouracil embryofetopathy True False False +Orphanet:485382 Genetic premature ovarian failure True False False +Orphanet:485405 16p12.1p12.3 triplication syndrome True False False +Orphanet:485418 EMILIN-1-related connective tissue disease True False False +Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect True False False +Orphanet:485426 Isolated congenital hepatic fibrosis True False False +Orphanet:486 Autosomal dominant severe congenital neutropenia True False False +Orphanet:48652 Monosomy 22q13.3 True False False +Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures True False False +Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome True False False +Orphanet:48686 Primary effusion lymphoma True False False +Orphanet:487 Krabbe disease True False False +Orphanet:48736 Embryonal carcinoma of the central nervous system True False False +Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome True False False +Orphanet:487809 Pediatric collagenous gastritis True False False +Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation True False False +Orphanet:487825 Pierpont syndrome True False False +Orphanet:488 Urachal cyst True False False +Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome True False False +Orphanet:48818 Aceruloplasminemia True False False +Orphanet:488191 Female infertility due to oocyte meiotic arrest True False False +Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome True False False +Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome True False False +Orphanet:488239 Acute macular neuroretinopathy True False False +Orphanet:488265 Osteofibrous dysplasia True False False +Orphanet:488280 14q32 duplication syndrome True False False +Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W True False False +Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 True False False +Orphanet:488437 SIX2-related frontonasal dysplasia True False False +Orphanet:488586 Congenital amyoplasia True False False +Orphanet:488594 Autosomal recessive spastic paraplegia type 76 True False False +Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome True False False +Orphanet:488618 Transketolase deficiency True False False +Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome True False False +Orphanet:488632 TBCK-related intellectual disability syndrome True False False +Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome True False False +Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder True False False +Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome True False False +Orphanet:488650 Distal myopathy, Tateyama type True False False +Orphanet:48918 Focal myositis True False False +Orphanet:49 Penile agenesis True False False +Orphanet:490 Omphalomesenteric cyst True False False +Orphanet:49041 IgG4-related retroperitoneal fibrosis True False False +Orphanet:49042 Dentinogenesis imperfecta True False False +Orphanet:492 Proliferating trichilemmal cyst True False False +Orphanet:493 Familial keratoacanthoma True False False +Orphanet:493342 Vibratory urticaria True False False +Orphanet:49382 Achromatopsia True False False +Orphanet:494 Keratoderma hereditarium mutilans True False False +Orphanet:494344 RERE-related neurodevelopmental syndrome True False False +Orphanet:494418 Vulvar carcinoma True False False +Orphanet:494421 Sacrococcygeal teratoma True False False +Orphanet:494424 Extracranial carotid artery aneurysm True False False +Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis True False False +Orphanet:494433 MIRAGE syndrome True False False +Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome True False False +Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome True False False +Orphanet:494448 Vulvar squamous cell carcinoma True False False +Orphanet:494451 Vulvar basal cell carcinoma True False False +Orphanet:494454 Vulvar adenocarcinoma True False False +Orphanet:494457 Rare hyperkinetic movement disorder True False False +Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement True False False +Orphanet:494541 Childhood-onset benign chorea with striatal involvement True False False +Orphanet:494547 Squamous cell carcinoma of the hypopharynx True False False +Orphanet:494550 Squamous cell carcinoma of the larynx True False False +Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma True False False +Orphanet:495274 Charcot-Marie-Tooth disease type 2T True False False +Orphanet:49566 Acquired purpura fulminans True False False +Orphanet:495818 9q33.3q34.11 microdeletion syndrome True False False +Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy True False False +Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome True False False +Orphanet:495879 Congenital agenesis of the scrotum True False False +Orphanet:495930 Familial monosomy 7 syndrome True False False +Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome True False False +Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome True False False +Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome True False False +Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome True False False +Orphanet:496751 EVEN-plus syndrome True False False +Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome True False False +Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome True False False +Orphanet:496916 Rare genetic hyperkinetic movement disorder True False False +Orphanet:496924 Non-inflammatory vasculopathy True False False +Orphanet:497188 Diffuse intrinsic pontine glioma True False False +Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect True False False +Orphanet:497737 Epidermolytic nevus True False False +Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 True False False +Orphanet:497764 Spinocerebellar ataxia type 43 True False False +Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome True False False +Orphanet:498 Keratosis pilaris atrophicans True False False +Orphanet:49804 Lichen amyloidosis True False False +Orphanet:498228 Phyllodes tumor of the prostate True False False +Orphanet:498251 Menstrual cycle-dependent periodic fever True False False +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome True False False +Orphanet:498345 Biliary atresia and associated disorders True False False +Orphanet:498350 Syndromic biliary atresia True False False +Orphanet:498359 Aquagenic palmoplantar keratoderma True False False +Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy True False False +Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement True False False +Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations True False False +Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations True False False +Orphanet:498457 Longitudinal limb defect True False False +Orphanet:498461 Terminal transverse limb defect True False False +Orphanet:498464 Non-syndromic preaxial polydactyly True False False +Orphanet:498467 Non-syndromic postaxial polydactyly True False False +Orphanet:498470 Non-syndromic complex polydactyly True False False +Orphanet:498474 Hyaline fibromatosis syndrome True False False +Orphanet:498477 Ectrodactyly with and without other manifestations True False False +Orphanet:498481 LRP5-related primary osteoporosis True False False +Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome True False False +Orphanet:498488 Overgrowth syndrome with 2q37 translocation True False False +Orphanet:498491 Complete hemimelia True False False +Orphanet:498494 Mirror-image polydactyly True False False +Orphanet:498497 Short rib-polydactyly syndrome type 5 True False False +Orphanet:498602 Sugarman brachydactyly True False False +Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome True False False +Orphanet:499 Kerion celsi True False False +Orphanet:499009 Congenital syphilis True False False +Orphanet:499047 Autoimmune/inflammatory optic neuropathy True False False +Orphanet:499085 Chronic relapsing inflammatory optic neuropathy True False False +Orphanet:499096 Isolated optic neuritis True False False +Orphanet:499103 Recurrent idiopathic neuroretinitis True False False +Orphanet:499107 Idiopathic optic perineuritis True False False +Orphanet:499182 Pilomatrix carcinoma True False False +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency True False False +Orphanet:50 Aicardi syndrome True False False +Orphanet:500 Noonan syndrome with multiple lentigines True False False +Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion True False False +Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome True False False +Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome True False False +Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome True False False +Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome True False False +Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome True False False +Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom True False False +Orphanet:500163 Witteveen-Kolk syndrome True False False +Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation True False False +Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder True False False +Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome True False False +Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses True False False +Orphanet:500478 Squamous cell carcinoma of the oropharynx True False False +Orphanet:500481 Squamous cell carcinoma of salivary glands True False False +Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome True False False +Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract True False False +Orphanet:500548 Osteosclerotic metaphyseal dysplasia True False False +Orphanet:501 Lafora disease True False False +Orphanet:502 Trichorhinophalangeal syndrome type 2 True False False +Orphanet:502305 Cochleovestibular malformation True False False +Orphanet:502318 Cochlear nerve deficiency True False False +Orphanet:502363 Squamous cell carcinoma of the oral cavity True False False +Orphanet:502366 Squamous cell carcinoma of the lip True False False +Orphanet:502369 Squamous cell carcinoma of oral cavity and lip True False False +Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome True False False +Orphanet:502430 Weiss-Kruszka Syndrome True False False +Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome True False False +Orphanet:502437 4q25 proximal deletion syndrome True False False +Orphanet:502444 Alkaline ceramidase 3 deficiency True False False +Orphanet:502499 Erythema multiforme major True False False +Orphanet:50251 Pleural mesothelioma True False False +Orphanet:503 Larsen syndrome True False False +Orphanet:504 Creeping myiasis True False False +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome True False False +Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency True False False +Orphanet:504530 Combined immunodeficiency due to Moesin deficiency True False False +Orphanet:505 Graham Little-Piccardi-Lassueur syndrome True False False +Orphanet:505208 3-methylglutaconic aciduria type 8 True False False +Orphanet:505216 3-methylglutaconic aciduria type 9 True False False +Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency True False False +Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome True False False +Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome True False False +Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders True False False +Orphanet:505652 CDKL5-deficiency disorder True False False +Orphanet:506 Leigh syndrome True False False +Orphanet:506052 Neuroendocrine neoplasm of pancreas True False False +Orphanet:506060 Functioning neuroendocrine tumor of pancreas True False False +Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas True False False +Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas True False False +Orphanet:506098 Neuroendocrine carcinoma of pancreas True False False +Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas True False False +Orphanet:506136 Neuroendocrine neoplasm of esophagus True False False +Orphanet:506307 Stromme syndrome True False False +Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency True False False +Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction True False False +Orphanet:506358 Gabriele-de Vries syndrome True False False +Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome True False False +Orphanet:507 Leishmaniasis True False False +Orphanet:508 Leprechaunism True False False +Orphanet:50809 Talo-patello-scaphoid osteolysis True False False +Orphanet:508093 MEPAN syndrome True False False +Orphanet:50810 Microlissencephaly-micromelia syndrome True False False +Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome True False False +Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies True False False +Orphanet:50814 Craniolenticulosutural dysplasia True False False +Orphanet:50815 Branchiogenic deafness syndrome True False False +Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome True False False +Orphanet:50839 Cat-scratch disease True False False +Orphanet:508410 Familial intestinal malrotation True False False +Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome True False False +Orphanet:508488 8q24.3 microdeletion syndrome True False False +Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome True False False +Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy True False False +Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome True False False +Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency True False False +Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy True False False +Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome True False False +Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome True False False +Orphanet:509 Leptospirosis True False False +Orphanet:50918 Kikuchi-Fujimoto disease True False False +Orphanet:50942 Striate palmoplantar keratoderma True False False +Orphanet:50943 Keratolytic winter erythema True False False +Orphanet:50944 Schöpf-Schulz-Passarge syndrome True False False +Orphanet:50945 Blomstrand lethal chondrodysplasia True False False +Orphanet:51 Aicardi-Goutières syndrome True False False +Orphanet:510 Lesch-Nyhan syndrome True False False +Orphanet:51083 Familial short QT syndrome True False False +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval True False False +Orphanet:511 Maple syrup urine disease True False False +Orphanet:51188 Ethylmalonic encephalopathy True False False +Orphanet:512 Metachromatic leukodystrophy True False False +Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells True False False +Orphanet:51208 Formiminoglutamic aciduria True False False +Orphanet:512103 Autosomal recessive epidermolytic ichthyosis True False False +Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation True False False +Orphanet:513436 Autosomal recessive spastic paraplegia type 78 True False False +Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome True False False +Orphanet:514 Acute monoblastic/monocytic leukemia True False False +Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome True False False +Orphanet:514980 ATP13A2-related parkinsonism True False False +Orphanet:51577 Cobblestone lissencephaly True False False +Orphanet:51608 Generalized arterial calcification of infancy True False False +Orphanet:51636 WHIM syndrome True False False +Orphanet:517 Acute myelomonocytic leukemia True False False +Orphanet:518 Acute megakaryoblastic leukemia True False False +Orphanet:51890 Anterior cutaneous nerve entrapment syndrome True False False +Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system True False False +Orphanet:519270 Rare disorder with entropion True False False +Orphanet:519274 Syndromic lacrimal system disorder True False False +Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations True False False +Orphanet:519278 Infective keratitis True False False +Orphanet:519280 Rare conjunctivitis True False False +Orphanet:519292 Syndromic ectopia lentis True False False +Orphanet:519294 Syndromic microspherophakia True False False +Orphanet:519300 Isolated chorioretinal dystrophy True False False +Orphanet:519302 Isolated macular dystrophy True False False +Orphanet:519304 Isolated vitreoretinopathy True False False +Orphanet:519325 Syndromic inherited retinal disorder True False False +Orphanet:519327 Syndromic vitreoretinopathy True False False +Orphanet:519331 Secondary early-onset glaucoma True False False +Orphanet:519333 Congenital optic disc excavation True False False +Orphanet:519339 Pseudopapilledema True False False +Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature True False False +Orphanet:519343 Rare ophthalmic disorder with cortical involvement True False False +Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement True False False +Orphanet:519355 Rare ocular motility/alignment disorder True False False +Orphanet:519384 Congenital cystic eye True False False +Orphanet:519386 Isolated congenital entropion True False False +Orphanet:519388 Autosomal recessive anterior segment dysgenesis True False False +Orphanet:519390 Isolated blepharochalasis True False False +Orphanet:519392 Isolated iridoschisis True False False +Orphanet:519396 Isolated microspherophakia True False False +Orphanet:519398 Isolated foveal hypoplasia True False False +Orphanet:519400 Peripapillary staphyloma True False False +Orphanet:519402 Isolated megalopapilla True False False +Orphanet:519404 Optic disc pit True False False +Orphanet:519406 Thygeson superficial punctate keratitis True False False +Orphanet:519408 Mooren ulcer True False False +Orphanet:519410 Terrien marginal degeneration True False False +Orphanet:519930 Fungal keratitis True False False +Orphanet:52 Alagille syndrome True False False +Orphanet:520 Acute promyelocytic leukemia True False False +Orphanet:52022 Potocki-Shaffer syndrome True False False +Orphanet:52047 Braddock syndrome True False False +Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome True False False +Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome True False False +Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome True False False +Orphanet:520814 Rare disorder of the visual organs True False False +Orphanet:520817 Isolated inherited retinal disorder True False False +Orphanet:520820 Progressive external ophthalmoplegia True False False +Orphanet:521 Chronic myeloid leukemia True False False +Orphanet:521123 Radiation-induced plexopathy True False False +Orphanet:521127 Osteoradionecrosis of the mandible True False False +Orphanet:521132 Radiation-induced disorder True False False +Orphanet:521219 Mirizzi syndrome True False False +Orphanet:521232 Genetic primary orthostatic disorder True False False +Orphanet:521236 Primary orthostatic disorder True False False +Orphanet:521258 Xq25 microduplication syndrome True False False +Orphanet:521305 Proximal myopathy with focal depletion of mitochondria True False False +Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome True False False +Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome True False False +Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome True False False +Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect True False False +Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD True False False +Orphanet:521426 PLAA-associated neurodevelopmental disorder True False False +Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome True False False +Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome True False False +Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome True False False +Orphanet:521450 LAMA5-related multisystemic syndrome True False False +Orphanet:522037 Primary autoimmune enteropathy True False False +Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome True False False +Orphanet:522504 Rare genetic disorder of the visual organs True False False +Orphanet:522580 Secondary early-onset glaucoma of genetic origin True False False +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer True False False +Orphanet:52368 Mohr-Tranebjaerg syndrome True False False +Orphanet:524 Li-Fraumeni syndrome True False False +Orphanet:52416 Mantle cell lymphoma True False False +Orphanet:52417 MALT lymphoma True False False +Orphanet:52427 Retinitis punctata albescens True False False +Orphanet:52429 Branchiootic syndrome True False False +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia True False False +Orphanet:525 Lichen planopilaris True False False +Orphanet:52503 X-linked creatine transporter deficiency True False False +Orphanet:52530 Pseudo-von Willebrand disease True False False +Orphanet:525731 Pediatric-onset Graves disease True False False +Orphanet:525738 Prepubertal anorexia nervosa True False False +Orphanet:526 Liddle syndrome True False False +Orphanet:52662 Rare teratologic disease True False False +Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect True False False +Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome True False False +Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome True False False +Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy True False False +Orphanet:52759 Vasculitis True False False +Orphanet:528 Congenital generalized lipodystrophy True False False +Orphanet:528084 Non-specific syndromic intellectual disability True False False +Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome True False False +Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome True False False +Orphanet:528623 Hereditary angioedema with C1Inh deficiency True False False +Orphanet:528647 Hereditary angioedema with normal C1Inh True False False +Orphanet:528663 Acquired angioedema with C1Inh deficiency True False False +Orphanet:529 Roch-Leri mesosomatous lipomatosis True False False +Orphanet:52901 Isolated follicle stimulating hormone deficiency True False False +Orphanet:529468 Monoclonal mast cell activation syndrome True False False +Orphanet:529574 Duane retraction syndrome with congenital deafness True False False +Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome True False False +Orphanet:529799 Acute bilirubin encephalopathy True False False +Orphanet:529808 Chronic bilirubin encephalopathy True False False +Orphanet:529831 Letrozole toxicity True False False +Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma True False False +Orphanet:529864 Secondary erythromelalgia True False False +Orphanet:52994 Orbital leiomyoma True False False +Orphanet:529962 17q24.2 microdeletion syndrome True False False +Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome True False False +Orphanet:529970 Male infertility due to acephalic spermatozoa True False False +Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome True False False +Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome True False False +Orphanet:53 Albers-Schönberg osteopetrosis True False False +Orphanet:530 Lipoid proteinosis True False False +Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system True False False +Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies True False False +Orphanet:530313 PIK3CA-related overgrowth syndrome True False False +Orphanet:53035 Caroli disease True False False +Orphanet:530792 RELA fusion-positive ependymoma True False False +Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma True False False +Orphanet:530849 Familial apolipoprotein A5 deficiency True False False +Orphanet:530983 Lamb-Shaffer syndrome True False False +Orphanet:530995 Mixed phenotype acute leukemia True False False +Orphanet:531 Miller-Dieker syndrome True False False +Orphanet:531151 9q21.13 microdeletion syndrome True False False +Orphanet:53271 Muenke syndrome True False False +Orphanet:53296 Familial cutaneous collagenoma True False False +Orphanet:533 Listeriosis True False False +Orphanet:53347 Brody myopathy True False False +Orphanet:53351 X-linked dystonia-parkinsonism True False False +Orphanet:53372 Hereditary geniospasm True False False +Orphanet:534 Oculocerebrorenal syndrome of Lowe True False False +Orphanet:535 Rare cutaneous lupus erythematosus True False False +Orphanet:53540 Goldmann-Favre syndrome True False False +Orphanet:535453 Familial lipase maturation factor 1 deficiency True False False +Orphanet:535458 Familial GPIHBP1 deficiency True False False +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity True False False +Orphanet:536 Systemic lupus erythematosus True False False +Orphanet:536391 RASopathy True False False +Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome True False False +Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome True False False +Orphanet:536516 Myopathic Ehlers-Danlos syndrome True False False +Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 True False False +Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome True False False +Orphanet:53689 Congenital chloride diarrhea True False False +Orphanet:53690 Congenital lactase deficiency True False False +Orphanet:53691 Congenital cornea plana True False False +Orphanet:53693 GRACILE syndrome True False False +Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome True False False +Orphanet:53697 Gnathodiaphyseal dysplasia True False False +Orphanet:53698 Myosin storage myopathy True False False +Orphanet:537 Toxic epidermal necrolysis True False False +Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh True False False +Orphanet:53715 Familial tumoral calcinosis True False False +Orphanet:53719 Wyburn-Mason syndrome True False False +Orphanet:53721 Spinal arteriovenous metameric syndrome True False False +Orphanet:53739 Distal hereditary motor neuropathy True False False +Orphanet:538 Lymphangioleiomyomatosis True False False +Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy True False False +Orphanet:538101 Congenital axonal neuropathy with encephalopathy True False False +Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome True False False +Orphanet:538756 Familial multiple discoid fibromas True False False +Orphanet:538863 Classic pyoderma gangrenosum True False False +Orphanet:538866 Pustular pyoderma gangrenosum True False False +Orphanet:538869 Bullous pyoderma gangrenosum True False False +Orphanet:538872 Vegetative pyoderma gangrenosum True False False +Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency True False False +Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency True False False +Orphanet:538958 Combined immunodeficiency due to CD70 deficiency True False False +Orphanet:538963 Combined immunodeficiency due to ITK deficiency True False False +Orphanet:54 X-linked recessive ocular albinism True False False +Orphanet:540 Familial hemophagocytic lymphohistiocytosis True False False +Orphanet:54028 Plummer-Vinson syndrome True False False +Orphanet:54057 Thrombotic thrombocytopenic purpura True False False +Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome True False False +Orphanet:541443 Anomalous aortic origin of the left coronary artery True False False +Orphanet:541454 Anomalous aortic origin of the right coronary artery True False False +Orphanet:541478 Anomalous aortic origin of coronary artery True False False +Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery True False False +Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency True False False +Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome True False False +Orphanet:542310 Leukoencephalopathy with calcifications and cysts True False False +Orphanet:54247 Posterior cortical atrophy True False False +Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome True False False +Orphanet:542568 Quadricuspid aortic valve True False False +Orphanet:542585 Auditory neuropathy-optic atrophy syndrome True False False +Orphanet:542592 Necrobiosis lipoidica True False False +Orphanet:54260 Left ventricular noncompaction True False False +Orphanet:542643 Livedoid vasculopathy True False False +Orphanet:542657 Isolated hyperchlorhidrosis True False False +Orphanet:54272 Hepatocellular adenoma True False False +Orphanet:542822 Anomaly of the coronary ostia True False False +Orphanet:543 Burkitt lymphoma True False False +Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome True False False +Orphanet:54368 Sarcocystosis True False False +Orphanet:54370 Primary membranoproliferative glomerulonephritis True False False +Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy True False False +Orphanet:544469 PRUNE1-related neurological syndrome True False False +Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality True False False +Orphanet:544482 Infection-related hemolytic uremic syndrome True False False +Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome True False False +Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome True False False +Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy True False False +Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form True False False +Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers True False False +Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome True False False +Orphanet:545 Follicular lymphoma True False False +Orphanet:54595 Craniopharyngioma True False False +Orphanet:548 Leprosy True False False +Orphanet:549 Legionnaires disease True False False +Orphanet:55 Oculocutaneous albinism True False False +Orphanet:550 MELAS True False False +Orphanet:551 MERRF True False False +Orphanet:552 MODY True False False +Orphanet:555402 NAD(P)HX dehydratase deficiency True False False +Orphanet:555407 NAD(P)HX epimerase deficiency True False False +Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver True False False +Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver True False False +Orphanet:555874 Congenital tricuspid valve dysplasia True False False +Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia True False False +Orphanet:555905 IgA pemphigus True False False +Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 True False False +Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 True False False +Orphanet:556 Malakoplakia True False False +Orphanet:556030 Early-onset familial hypoaldosteronism True False False +Orphanet:556037 Late-onset familial hypoaldosteronism True False False +Orphanet:556508 Rare disorder due to poisoning True False False +Orphanet:55654 Hypotrichosis simplex True False False +Orphanet:55655 Pneumococcal meningitis True False False +Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome True False False +Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia True False False +Orphanet:557003 Oculoskeletodental syndrome True False False +Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency True False False +Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency True False False +Orphanet:557492 group of disorders True False False +Orphanet:557493 disorder True False False +Orphanet:557494 subtype of a disorder True False False +Orphanet:558 Marfan syndrome True False False +Orphanet:558411 Idiopathic gastroparesis True False False +Orphanet:55880 Chondrosarcoma True False False +Orphanet:55881 Adamantinoma True False False +Orphanet:559 Marinesco-Sjögren syndrome True False False +Orphanet:56 Alkaptonuria True False False +Orphanet:560 Marshall syndrome True False False +Orphanet:561 Marshall-Smith syndrome True False False +Orphanet:561854 FOXG1 syndrome True False False +Orphanet:562 McCune-Albright syndrome True False False +Orphanet:562509 Heme oxygenase-1 deficiency True False False +Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome True False False +Orphanet:562538 Autosomal recessive extra-oral halitosis True False False +Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome True False False +Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome True False False +Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome True False False +Orphanet:563 Peripartum cardiomyopathy True False False +Orphanet:56304 Atelosteogenesis type II True False False +Orphanet:56305 Atelosteogenesis type III True False False +Orphanet:563576 Autoimmune hepatitis type 1 True False False +Orphanet:563581 Autoimmune hepatitis type 2 True False False +Orphanet:563589 Seronegative autoimmune hepatitis True False False +Orphanet:563609 Isolated anencephaly True False False +Orphanet:563612 Isolated exencephaly True False False +Orphanet:563666 Serous cystadenoma of childhood True False False +Orphanet:563671 Mucinous cystadenoma of childhood True False False +Orphanet:563676 Seromucinous cystadenoma of childhood True False False +Orphanet:563684 Furuncular myiasis due to Dermatobia hominis True False False +Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga True False False +Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini True False False +Orphanet:563708 Syndromic congenital sodium diarrhea True False False +Orphanet:563951 Isolated congenital aglossia True False False +Orphanet:563954 Isolated congenital hypoglossia True False False +Orphanet:563991 Osteochondrosis of the tarsal bone True False False +Orphanet:564 Meckel syndrome True False False +Orphanet:564003 Osteochondrosis of the metatarsal bone True False False +Orphanet:56425 Cold agglutinin disease True False False +Orphanet:565 Menkes disease True False False +Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy True False False +Orphanet:565624 Combined oxidative phosphorylation defect type 39 True False False +Orphanet:565641 Primary desmosis coli True False False +Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation True False False +Orphanet:565782 Methotrexate toxicity True False False +Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement True False False +Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 True False False +Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome True False False +Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 True False False +Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 True False False +Orphanet:566 Congenital microcoria True False False +Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome True False False +Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome True False False +Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia True False False +Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha True False False +Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta True False False +Orphanet:566393 Acute mast cell leukemia True False False +Orphanet:566396 Chronic mast cell leukemia True False False +Orphanet:566841 Liver adenomatosis True False False +Orphanet:566847 Aprosencephaly/atelencephaly spectrum True False False +Orphanet:566852 Atelencephaly True False False +Orphanet:566857 Aprosencephaly True False False +Orphanet:566862 Left sided atrial isomerism True False False +Orphanet:566943 Mueller-Weiss syndrome True False False +Orphanet:567 22q11.2 deletion syndrome True False False +Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome True False False +Orphanet:567544 Idiopathic non-lupus full-house nephropathy True False False +Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance True False False +Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome True False False +Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome True False False +Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy True False False +Orphanet:567983 Parenteral nutrition-associated cholestasis True False False +Orphanet:568 Microphthalmia, Lenz type True False False +Orphanet:568041 Primary lymphedema without systemic or visceral involvement True False False +Orphanet:568044 Primary lymphedema with systemic or visceral involvement True False False +Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema True False False +Orphanet:568051 GJC2-related late-onset primary lymphedema True False False +Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome True False False +Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis True False False +Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis True False False +Orphanet:569 Familial or sporadic hemiplegic migraine True False False +Orphanet:569164 Angiomatoid fibrous histiocytoma True False False +Orphanet:569248 Microcystic stromal tumor True False False +Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 True False False +Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 True False False +Orphanet:56970 Human prion disease True False False +Orphanet:569816 CELSR1-related late-onset primary lymphedema True False False +Orphanet:569821 Congenital primary lymphedema of Gordon True False False +Orphanet:57 Glycogen storage disease due to aldolase A deficiency True False False +Orphanet:570 Moebius syndrome True False False +Orphanet:570371 Bartter syndrome type 5 True False False +Orphanet:570422 Galactose mutarotase deficiency True False False +Orphanet:570431 Idiopathic multicentric Castleman disease True False False +Orphanet:570438 HHV-8-associated multicentric Castleman disease True False False +Orphanet:570470 Ricin poisoning True False False +Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect True False False +Orphanet:570762 Infective endocarditis True False False +Orphanet:57145 SUNCT syndrome True False False +Orphanet:57146 Rare hepatic disease True False False +Orphanet:57196 Medial condensing osteitis of the clavicle True False False +Orphanet:572 Immunodeficiency by defective expression of MHC class II True False False +Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome True False False +Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus True False False +Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 True False False +Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 True False False +Orphanet:572385 Brachydactyly type B1 True False False +Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia True False False +Orphanet:572543 RFVT2-related riboflavin transporter deficiency True False False +Orphanet:572550 RFVT3-related riboflavin transporter deficiency True False False +Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum True False False +Orphanet:572768 Microcephaly-micromelia syndrome True False False +Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome True False False +Orphanet:572798 WARS2-related combined oxidative phosphorylation defect True False False +Orphanet:573 Monilethrix True False False +Orphanet:573163 Pheochromocytoma-paraganglioma True False False +Orphanet:573253 Split cord malformation type II True False False +Orphanet:573278 Split cord malformation True False False +Orphanet:574 21q deletion syndrome True False False +Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency True False False +Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency True False False +Orphanet:575 Muckle-Wells syndrome True False False +Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy True False False +Orphanet:576 Mucolipidosis type II True False False +Orphanet:576074 Middle East respiratory syndrome True False False +Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia True False False +Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia True False False +Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia True False False +Orphanet:576242 Intermediate atrioventricular septal defect True False False +Orphanet:576278 SATB2-associated syndrome True False False +Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant True False False +Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome True False False +Orphanet:576356 Sporadic human prion disease True False False +Orphanet:576360 Acquired human prion disease True False False +Orphanet:576370 Variant Creutzfeldt-Jakob disease True False False +Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease True False False +Orphanet:576742 Genetic hemolytic uremic syndrome True False False +Orphanet:577 Mucolipidosis type III True False False +Orphanet:57777 Cirrhotic cardiomyopathy True False False +Orphanet:57782 Mazabraud syndrome True False False +Orphanet:578 Mucolipidosis type IV True False False +Orphanet:579 Mucopolysaccharidosis type 1 True False False +Orphanet:58 Alexander disease True False False +Orphanet:580 Mucopolysaccharidosis type 2 True False False +Orphanet:58017 Classic hairy cell leukemia True False False +Orphanet:58040 Osteoblastoma True False False +Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas True False False +Orphanet:580933 Lethal brain and heart developmental defects True False False +Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome True False False +Orphanet:580951 Punctate inner choroidopathy True False False +Orphanet:581 Mucopolysaccharidosis type 3 True False False +Orphanet:581271 Cramp-fasciculation syndrome True False False +Orphanet:582 Mucopolysaccharidosis type 4 True False False +Orphanet:583 Mucopolysaccharidosis type 6 True False False +Orphanet:583097 Congenital infiltrating lipomatosis of the face True False False +Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form True False False +Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency True False False +Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency True False False +Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency True False False +Orphanet:583856 Isolated splenic vein thrombosis True False False +Orphanet:583861 Isolated mesenteric vein thrombosis True False False +Orphanet:584 Mucopolysaccharidosis type 7 True False False +Orphanet:585 Multiple sulfatase deficiency True False False +Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) True False False +Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality True False False +Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) True False False +Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) True False False +Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) True False False +Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy True False False +Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy True False False +Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) True False False +Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) True False False +Orphanet:586 Cystic fibrosis True False False +Orphanet:586130 Sporadic fatal insomnia True False False +Orphanet:588 Muscle-eye-brain disease True False False +Orphanet:589 Myasthenia gravis True False False +Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome True False False +Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome True False False +Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome True False False +Orphanet:589522 Spinocerebellar ataxia type 46 True False False +Orphanet:589527 Spinocerebellar ataxia type 45 True False False +Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) True False False +Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement True False False +Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder True False False +Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) True False False +Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies True False False +Orphanet:589618 Dystonia 28 True False False +Orphanet:589746 Inherited gynecological cancer-predisposing syndrome True False False +Orphanet:589821 Congenital-onset Steinert myotonic dystrophy True False False +Orphanet:589824 Childhood-onset Steinert myotonic dystrophy True False False +Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy True False False +Orphanet:589830 Adult-onset Steinert myotonic dystrophy True False False +Orphanet:589833 Late-onset Steinert myotonic dystrophy True False False +Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome True False False +Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome True False False +Orphanet:59 Allan-Herndon-Dudley syndrome True False False +Orphanet:590 Congenital myasthenic syndrome True False False +Orphanet:590539 Isolated melanotic schwannoma True False False +Orphanet:591 Furuncular myiasis True False False +Orphanet:59135 Laing early-onset distal myopathy True False False +Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy True False False +Orphanet:592 Macrophagic myofasciitis True False False +Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum True False False +Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome True False False +Orphanet:592574 Menke-Hennekam syndrome True False False +Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies True False False +Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies True False False +Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies True False False +Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies True False False +Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies True False False +Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies True False False +Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies True False False +Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies True False False +Orphanet:59298 Schilder disease True False False +Orphanet:593 Myofibrillar myopathy True False False +Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome True False False +Orphanet:59305 Gestational trophoblastic neoplasm True False False +Orphanet:59306 McLeod neuroacanthocytosis syndrome True False False +Orphanet:59315 Rhombencephalosynapsis True False False +Orphanet:595 Centronuclear myopathy True False False +Orphanet:595098 Timothy syndrome type 1 True False False +Orphanet:595105 Timothy syndrome type 2 True False False +Orphanet:595109 Atypical Timothy syndrome True False False +Orphanet:595133 Perivascular epithelioid cell neoplasm True False False +Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome True False False +Orphanet:595337 Adrenal hypoplasia congenita True False False +Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement True False False +Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement True False False +Orphanet:595356 Localized dystrophic epidermolysis bullosa True False False +Orphanet:596 X-linked centronuclear myopathy True False False +Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis True False False +Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone True False False +Orphanet:596448 IgG4-related systemic disease True False False +Orphanet:596753 VEXAS syndrome True False False +Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency True False False +Orphanet:596937 Portosinusoidal vascular disease True False False +Orphanet:596941 Incomplete septal cirrhosis True False False +Orphanet:597 Central core disease True False False +Orphanet:597201 TRIM22-related inflammatory bowel disease True False False +Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome True False False +Orphanet:597733 Oculocutaneous albinism type 8 True False False +Orphanet:597738 Luscan-Lumish syndrome True False False +Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome True False False +Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome True False False +Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome True False False +Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome True False False +Orphanet:597887 ALPI-related inflammatory bowel disease True False False +Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia True False False +Orphanet:598 Multiminicore myopathy True False False +Orphanet:598164 FOXG1 syndrome due to intragenic alteration True False False +Orphanet:598216 Upper tract urothelial carcinoma True False False +Orphanet:598363 Multisystem inflammatory syndrome in children and adults True False False +Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome True False False +Orphanet:599 Distal myopathy True False False +Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome True False False +Orphanet:599373 STXBP1-related encephalopathy True False False +Orphanet:599376 Hypomyelination of early myelinating structures True False False +Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant True False False +Orphanet:599480 Acquired hemophilia A True False False +Orphanet:599485 Acquired hemophilia B True False False +Orphanet:599490 Acquired factor V deficiency True False False +Orphanet:599495 Acquired factor VII deficiency True False False +Orphanet:599501 Acquired factor X deficiency True False False +Orphanet:599507 Acquired factor XI deficiency True False False +Orphanet:599513 Acquired factor XIII deficiency True False False +Orphanet:599519 Factor V short isoforms-related bleeding disorder True False False +Orphanet:599579 Factor V Amsterdam bleeding disorder True False False +Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency True False False +Orphanet:60 Alpha-1-antitrypsin deficiency True False False +Orphanet:600 Vocal cord and pharyngeal distal myopathy True False False +Orphanet:60014 Argyria True False False +Orphanet:60015 Enlarged parietal foramina True False False +Orphanet:600194 Factor V Atlanta bleeding disorder True False False +Orphanet:60025 Pulmonary alveolar microlithiasis True False False +Orphanet:60026 Pulmonary nodular lymphoid hyperplasia True False False +Orphanet:60030 Loeys-Dietz syndrome True False False +Orphanet:60032 Recurrent respiratory papillomatosis True False False +Orphanet:60033 Idiopathic bronchiectasis True False False +Orphanet:60039 Pudendal neuralgia True False False +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome True False False +Orphanet:60041 Congenital heart block True False False +Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance True False False +Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome True False False +Orphanet:600691 Combined deficiency of factor VII and factor X True False False +Orphanet:600731 Clark-Baraitser syndrome True False False +Orphanet:600832 Legionella infection True False False +Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula True False False +Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula True False False +Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type True False False +Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type True False False +Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula True False False +Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula True False False +Orphanet:600998 Non-syndromic cloacal malformation True False False +Orphanet:601002 Non-syndromic anorectal malformation without fistula True False False +Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis True False False +Orphanet:601013 Non-syndromic anorectal malformation with pouch colon True False False +Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia True False False +Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis True False False +Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula True False False +Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula True False False +Orphanet:602 GNE myopathy True False False +Orphanet:603 Distal myopathy, Welander type True False False +Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome True False False +Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome True False False +Orphanet:603515 Isolated female hypospadias True False False +Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome True False False +Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome True False False +Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome True False False +Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers True False False +Orphanet:606 Proximal myotonic myopathy True False False +Orphanet:607 Nemaline myopathy True False False +Orphanet:609 Tibial muscular dystrophy True False False +Orphanet:61 Alpha-mannosidosis True False False +Orphanet:610 Bethlem muscular dystrophy True False False +Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome True False False +Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome True False False +Orphanet:611 Inclusion body myositis True False False +Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome True False False +Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome True False False +Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome True False False +Orphanet:611223 EN1-related dorsoventral syndrome True False False +Orphanet:611237 Parkinsonism with polyneuropathy True False False +Orphanet:611247 Pontocerebellar hypoplasia type 11 True False False +Orphanet:611256 Pontocerebellar hypoplasia type 12 True False False +Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome True False False +Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability True False False +Orphanet:612 Potassium-aggravated myotonia True False False +Orphanet:613267 Pontocerebellar hypoplasia type 13 True False False +Orphanet:613274 Pontocerebellar hypoplasia type 14 True False False +Orphanet:614 Thomsen and Becker disease True False False +Orphanet:615 Familial atrial myxoma True False False +Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome True False False +Orphanet:615943 Granuloma faciale True False False +Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome True False False +Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate True False False +Orphanet:615970 Chronic intervillositis of unknown etiology True False False +Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation True False False +Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster True False False +Orphanet:616 Medulloblastoma True False False +Orphanet:617 Congenital primary megaureter True False False +Orphanet:617294 Twin anemia-polycythemia sequence True False False +Orphanet:617297 Twin-reversed arterial perfusion sequence True False False +Orphanet:617301 Selective intrauterine growth restriction True False False +Orphanet:617304 Amniotic fluid embolism True False False +Orphanet:617408 Classic eosinophilic pustular folliculitis True False False +Orphanet:617440 Painful legs and moving toes syndrome True False False +Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome True False False +Orphanet:617910 Conjunctival malignant melanoma True False False +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia True False False +Orphanet:617919 F12-associated cold autoinflammatory syndrome True False False +Orphanet:617930 Hemophilia B Leyden True False False +Orphanet:618 Familial melanoma True False False +Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency True False False +Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome True False False +Orphanet:619284 Narcolepsy True False False +Orphanet:619340 Inherited hematologic cancer-predisposing syndrome True False False +Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 True False False +Orphanet:619367 SAMD9L-associated autoinflammatory syndrome True False False +Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration True False False +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome True False False +Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency True False False +Orphanet:619972 CADINS disease True False False +Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome True False False +Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 True False False +Orphanet:620096 Non-syndromic unisutural craniosynostosis True False False +Orphanet:620102 Non-syndromic unicoronal craniosynostosis True False False +Orphanet:620113 Non-syndromic unilambdoid craniosynostosis True False False +Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis True False False +Orphanet:620146 Non-syndromic unisquamosal craniosynostosis True False False +Orphanet:620152 Non-syndromic multisutural craniosynostosis True False False +Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis True False False +Orphanet:620178 Non-syndromic bilambdoid craniosynostosis True False False +Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis True False False +Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis True False False +Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis True False False +Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis True False False +Orphanet:620212 Non-syndromic pansynostosis True False False +Orphanet:620217 Bartter syndrome type 1 True False False +Orphanet:620220 Bartter syndrome type 2 True False False +Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome True False False +Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability True False False +Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation True False False +Orphanet:621 Hereditary methemoglobinemia True False False +Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome True False False +Orphanet:622 Homocystinuria without methylmalonic aciduria True False False +Orphanet:622014 Autoimmune encephalitis True False False +Orphanet:622099 Superior mesenteric artery syndrome True False False +Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection True False False +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia True False False +Orphanet:623615 Autoimmune limbic encephalitis True False False +Orphanet:623626 Paraneoplastic cerebellar degeneration True False False +Orphanet:623638 Immune-mediated cerebellar ataxia True False False +Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia True False False +Orphanet:623789 Body integrity dysphoria True False False +Orphanet:623801 Acute flaccid myelitis True False False +Orphanet:624 Familial multiple nevi flammei True False False +Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies True False False +Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies True False False +Orphanet:624190 Paraneoplastic isolated brainstem encephalitis True False False +Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies True False False +Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies True False False +Orphanet:624244 Postinfectious cerebellitis True False False +Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies True False False +Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies True False False +Orphanet:626 Large congenital melanocytic nevus True False False +Orphanet:627 Nance-Horan syndrome True False False +Orphanet:628 Diastrophic dysplasia True False False +Orphanet:629 Short stature due to growth hormone qualitative anomaly True False False +Orphanet:63 Alport syndrome True False False +Orphanet:631 Non-acquired isolated growth hormone deficiency True False False +Orphanet:631068 Autosomal dominant spastic paraplegia type 80 True False False +Orphanet:631073 Autosomal recessive spastic paraplegia type 82 True False False +Orphanet:631076 Autosomal recessive spastic paraplegia type 83 True False False +Orphanet:631079 Autosomal recessive spastic paraplegia type 84 True False False +Orphanet:631082 Autosomal recessive spastic paraplegia type 85 True False False +Orphanet:631085 Autosomal recessive spastic paraplegia type 86 True False False +Orphanet:631088 Autosomal recessive spastic paraplegia type 87 True False False +Orphanet:631095 Spinocerebellar ataxia type 44 True False False +Orphanet:631103 Spinocerebellar ataxia type 48 True False False +Orphanet:631106 Spinocerebellar ataxia type 49 True False False +Orphanet:631248 Mitchell Syndrome True False False +Orphanet:631251 Cancer of unknown primary site True False False +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia True False False +Orphanet:63259 Iniencephaly True False False +Orphanet:63260 Craniorachischisis True False False +Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome True False False +Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis True False False +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement True False False +Orphanet:63275 Pemphigoid gestationis True False False +Orphanet:633 Laron syndrome True False False +Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome True False False +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome True False False +Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome True False False +Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome True False False +Orphanet:633028 CPE-related Prader-Willi-like syndrome True False False +Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome True False False +Orphanet:633099 PAICS deficiency True False False +Orphanet:633124 Invasive scopulariopsis infection True False False +Orphanet:633211 Preaxial digit brachydactyly-webbed fingers True False False +Orphanet:633228 Proximal femoral focal deficiency True False False +Orphanet:634 Netherton syndrome True False False +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia True False False +Orphanet:63443 Rare epithelial tumor of stomach True False False +Orphanet:63446 Acrocapitofemoral dysplasia True False False +Orphanet:634461 Mosaic neurofibromatosis type 1 True False False +Orphanet:634475 Mosaic NF2-related schwannomatosis True False False +Orphanet:634492 Mosaic schwannomatosis True False False +Orphanet:634511 Mosaic Legius syndrome True False False +Orphanet:634518 Neurofibromatosis/schwannomatosis True False False +Orphanet:63454 Pattern dystrophy True False False +Orphanet:63455 Paraneoplastic pemphigus True False False +Orphanet:635 Neuroblastoma True False False +Orphanet:636 Neurofibromatosis type 1 True False False +Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome True False False +Orphanet:636945 Invasive Candidiasis True False False +Orphanet:636950 Glaucomatocyclitic crisis disease True False False +Orphanet:636955 Endemic pemphigus foliaceus True False False +Orphanet:636965 Autosomal dominant myosin storage myopathy True False False +Orphanet:636970 Autosomal recessive myosin storage myopathy True False False +Orphanet:637 Full NF2-related schwannomatosis True False False +Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome True False False +Orphanet:637051 Borna virus encephalitis True False False +Orphanet:638 Neurofibromatosis-Noonan syndrome True False False +Orphanet:63862 Schisis association True False False +Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG True False False +Orphanet:63999 IgG4-related mediastinitis True False False +Orphanet:64 Alström syndrome True False False +Orphanet:640 Hereditary neuropathy with liability to pressure palsies True False False +Orphanet:641 Multifocal motor neuropathy True False False +Orphanet:641350 Immunotherapy induced hypophysitis True False False +Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome True False False +Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome True False False +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency True False False +Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) True False False +Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) True False False +Orphanet:641396 Central nervous system tuberculosis True False False +Orphanet:641496 Childhood-onset schizophrenia True False False +Orphanet:641613 Endogenous Cushing syndrome True False False +Orphanet:641829 Neonatal compartment syndrome True False False +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 True False False +Orphanet:642071 Primary pulmonary vein stenosis True False False +Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type True False False +Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type True False False +Orphanet:642671 Familial hyperaldosteronism type IV True False False +Orphanet:642675 CHD8 overgrowth syndrome True False False +Orphanet:642691 Fragile X-associated primary ovarian insufficiency True False False +Orphanet:642747 PUM1-related cerebellar ataxia True False False +Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation True False False +Orphanet:64280 Childhood absence epilepsy True False False +Orphanet:642945 Perrault syndrome type 1 True False False +Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency True False False +Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency True False False +Orphanet:642976 Perrault syndrome type 2 True False False +Orphanet:643 Giant axonal neuropathy True False False +Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome True False False +Orphanet:643549 Hao-Fountain syndrome True False False +Orphanet:644 NARP syndrome True False False +Orphanet:645276 Spinal cord lipoma True False False +Orphanet:645340 Non-terminal myelocystocele True False False +Orphanet:645350 Segmental arterial mediolysis True False False +Orphanet:645383 True myelomeningocele True False False +Orphanet:645388 Hemi-myelomeningocele True False False +Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type True False False +Orphanet:64545 Benign idiopathic neonatal seizures True False False +Orphanet:645613 Classical dermatomyositis True False False +Orphanet:645617 Amyopathic dermatomyositis True False False +Orphanet:645626 Adermatopathic dermatomyositis True False False +Orphanet:645749 Congenital esophageal stenosis True False False +Orphanet:645793 Spontaneous intestinal perforation True False False +Orphanet:645807 Primary tuberculous lymphadenitis True False False +Orphanet:645814 Primary pulmonary tuberculosis True False False +Orphanet:645822 Primary bone and joint tuberculosis True False False +Orphanet:645849 Primary cutaneous tuberculosis True False False +Orphanet:645854 Multifocal tuberculosis True False False +Orphanet:645859 Primary tuberculosis of the digestive system True False False +Orphanet:645874 Primary genito-urinary tuberculosis True False False +Orphanet:646 Niemann-Pick disease type C True False False +Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type True False False +Orphanet:646139 Dysplastic cortical hyperostosis True False False +Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome True False False +Orphanet:64686 Tolosa-Hunt syndrome True False False +Orphanet:64692 Oroya fever True False False +Orphanet:64694 Trench fever True False False +Orphanet:647 Nijmegen breakage syndrome True False False +Orphanet:64720 Leiomyosarcoma True False False +Orphanet:64722 Granulomatous mastitis True False False +Orphanet:64734 Iridocorneal endothelial syndrome True False False +Orphanet:64739 Ovarian hyperstimulation syndrome True False False +Orphanet:64741 Pulmonary blastoma True False False +Orphanet:64742 Pleuropulmonary blastoma True False False +Orphanet:64743 Hepatoportal sclerosis True False False +Orphanet:64744 IgG4-related thyroid disease True False False +Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy True False False +Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 True False False +Orphanet:64747 X-linked Charcot-Marie-Tooth disease True False False +Orphanet:64748 Dejerine-Sottas syndrome True False False +Orphanet:64749 Charcot-Marie-Tooth disease type 4 True False False +Orphanet:64751 Hereditary motor and sensory neuropathy type 5 True False False +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 True False False +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 True False False +Orphanet:64754 Nevus comedonicus syndrome True False False +Orphanet:64755 Becker nevus syndrome True False False +Orphanet:647676 Multiple epiphyseal dysplasia type 7 True False False +Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome True False False +Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome True False False +Orphanet:647794 Isolated persistent urogenital sinus True False False +Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome True False False +Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency True False False +Orphanet:647811 Cardiac-urogenital syndrome True False False +Orphanet:647823 Idiopathic pregnancy-associated osteoporosis True False False +Orphanet:648 Noonan syndrome True False False +Orphanet:648562 Ferroportin disease True False False +Orphanet:648919 Idiopathic catatonia True False False +Orphanet:649 Norrie disease True False False +Orphanet:65 Leber congenital amaurosis True False False +Orphanet:650 LCAT deficiency True False False +Orphanet:652 Multiple endocrine neoplasia type 1 True False False +Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome True False False +Orphanet:65250 Perineural cyst True False False +Orphanet:65282 Carvajal syndrome True False False +Orphanet:65283 Timothy syndrome True False False +Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease True False False +Orphanet:65285 Lhermitte-Duclos disease True False False +Orphanet:65286 3q29 microdeletion syndrome True False False +Orphanet:65287 Beta-ureidopropionase deficiency True False False +Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome True False False +Orphanet:653 Multiple endocrine neoplasia type 2 True False False +Orphanet:654 Nephroblastoma True False False +Orphanet:655 Nephronophthisis True False False +Orphanet:656 Genetic steroid-resistant nephrotic syndrome True False False +Orphanet:65681 Vaginal atresia True False False +Orphanet:65682 Benign recurrent intrahepatic cholestasis True False False +Orphanet:65683 Isolated focal cortical dysplasia True False False +Orphanet:65684 Monomelic amyotrophy True False False +Orphanet:657 Congenital isolated hyperinsulinism True False False +Orphanet:65720 Arthrogryposis-severe scoliosis syndrome True False False +Orphanet:65743 Autosomal dominant multiple pterygium syndrome True False False +Orphanet:65748 Multiple self-healing squamous epithelioma True False False +Orphanet:65753 Charcot-Marie-Tooth disease type 1 True False False +Orphanet:65759 Carpenter syndrome True False False +Orphanet:65798 Goodman syndrome True False False +Orphanet:658 Non-histaminic angioedema True False False +Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques True False False +Orphanet:660 Omphalocele True False False +Orphanet:661 Congenital central hypoventilation syndrome True False False +Orphanet:662 Yellow nail syndrome True False False +Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia True False False +Orphanet:664 Ornithine transcarbamylase deficiency True False False +Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome True False False +Orphanet:66529 Tako-Tsubo cardiomyopathy True False False +Orphanet:666 Osteogenesis imperfecta True False False +Orphanet:66624 PANDAS True False False +Orphanet:66625 Cerebrooculonasal syndrome True False False +Orphanet:66627 Tenosynovial giant cell tumor True False False +Orphanet:66628 Obesity due to congenital leptin deficiency True False False +Orphanet:66629 Goldberg-Shprintzen megacolon syndrome True False False +Orphanet:66630 Congenital pseudoarthrosis of the clavicle True False False +Orphanet:66631 CEDNIK syndrome True False False +Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome True False False +Orphanet:66634 Dilated cardiomyopathy with ataxia True False False +Orphanet:66637 Diaphanospondylodysostosis True False False +Orphanet:66646 Cutaneous mastocytosis True False False +Orphanet:66661 Mast cell sarcoma True False False +Orphanet:66662 Extracutaneous mastocytoma True False False +Orphanet:667 Autosomal recessive malignant osteopetrosis True False False +Orphanet:668 Osteosarcoma True False False +Orphanet:67 Amoebiasis due to Entamoeba histolytica True False False +Orphanet:67036 Autosomal dominant optic atrophy and cataract True False False +Orphanet:67038 B-cell chronic lymphocytic leukemia True False False +Orphanet:67039 Segmental odontomaxillary dysplasia True False False +Orphanet:67041 Hyaluronidase deficiency True False False +Orphanet:67042 Late-onset retinal degeneration True False False +Orphanet:67043 Amoebic keratitis True False False +Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia True False False +Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency True False False +Orphanet:67046 3-methylglutaconic aciduria type 1 True False False +Orphanet:67047 3-methylglutaconic aciduria type 3 True False False +Orphanet:67048 3-methylglutaconic aciduria type 4 True False False +Orphanet:671 Primary cutis verticis gyrata True False False +Orphanet:672 Pallister-Hall syndrome True False False +Orphanet:673 Malaria True False False +Orphanet:674 Accessory pancreas True False False +Orphanet:675 Annular pancreas True False False +Orphanet:676 Hereditary chronic pancreatitis True False False +Orphanet:677 Pancreatoblastoma True False False +Orphanet:678 Papillon-Lefèvre syndrome True False False +Orphanet:679 Malignant atrophic papulosis True False False +Orphanet:68 Amoebiasis due to free-living amoebae True False False +Orphanet:681 Hypokalemic periodic paralysis True False False +Orphanet:682 Hyperkalemic periodic paralysis True False False +Orphanet:683 Progressive supranuclear palsy True False False +Orphanet:68329 Rare maxillo-facial surgical disease True False False +Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect True False False +Orphanet:68335 Rare chromosomal anomaly True False False +Orphanet:68336 Rare genetic tumor True False False +Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome True False False +Orphanet:68346 Rare genetic skin disease True False False +Orphanet:68347 Tumor of hematopoietic and lymphoid tissues True False False +Orphanet:68354 Rare sleep disorder True False False +Orphanet:68356 Leukodystrophy True False False +Orphanet:68361 Rare deafness True False False +Orphanet:68362 Rare vascular disease True False False +Orphanet:68363 Rare dystonia True False False +Orphanet:68366 Lysosomal disease True False False +Orphanet:68367 Rare inborn errors of metabolism True False False +Orphanet:68373 Peroxisomal disease True False False +Orphanet:68378 Congenital limb malformation True False False +Orphanet:68380 Mitochondrial disease True False False +Orphanet:68381 Neuromuscular disease True False False +Orphanet:68385 Neurometabolic disease True False False +Orphanet:684 Paramyotonia congenita of Von Eulenburg True False False +Orphanet:68402 Rare parkinsonian disorder True False False +Orphanet:68411 Rare bone tumor True False False +Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly True False False +Orphanet:68416 Rare infectious disease True False False +Orphanet:68419 Vascular anomaly or angioma True False False +Orphanet:685 Hereditary spastic paraplegia True False False +Orphanet:69028 Dysostosis with brachydactyly True False False +Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome True False False +Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization True False False +Orphanet:69076 Familial renal glucosuria True False False +Orphanet:69077 Rhabdoid tumor True False False +Orphanet:69078 Liposarcoma True False False +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome True False False +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type True False False +Orphanet:69084 Pure hair and nail ectodermal dysplasia True False False +Orphanet:69085 Limb-mammary syndrome True False False +Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome True False False +Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome True False False +Orphanet:69125 Anonychia with flexural pigmentation True False False +Orphanet:69126 PAPA syndrome True False False +Orphanet:69663 Low phospholipid-associated cholelithiasis True False False +Orphanet:69665 Intrahepatic cholestasis of pregnancy True False False +Orphanet:69723 Tyrosinemia type 3 True False False +Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome True False False +Orphanet:69736 Bilateral acute depigmentation of the iris True False False +Orphanet:69737 Bosley-Salih-Alorainy syndrome True False False +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome True False False +Orphanet:69744 Circumscribed palmoplantar hypokeratosis True False False +Orphanet:69745 Warty dyskeratoma True False False +Orphanet:699 Pearson syndrome True False False +Orphanet:7 3C syndrome True False False +Orphanet:70 Proximal spinal muscular atrophy True False False +Orphanet:700 Alopecia totalis True False False +Orphanet:701 Alopecia universalis True False False +Orphanet:702 Pelizaeus-Merzbacher disease True False False +Orphanet:703 Bullous pemphigoid True False False +Orphanet:704 Pemphigus vulgaris True False False +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type True False False +Orphanet:70475 Radiation proctitis True False False +Orphanet:70476 Vernal keratoconjunctivitis True False False +Orphanet:70482 Carcinoma of esophagus True False False +Orphanet:705 Pendred syndrome True False False +Orphanet:70567 Cholangiocarcinoma True False False +Orphanet:70568 Post-transplant lymphoproliferative disease True False False +Orphanet:70573 Small cell lung cancer True False False +Orphanet:70578 Adult acute respiratory distress syndrome True False False +Orphanet:70587 Infant acute respiratory distress syndrome True False False +Orphanet:70588 Meconium aspiration syndrome True False False +Orphanet:70589 Bronchopulmonary dysplasia True False False +Orphanet:70590 Infantile apnea True False False +Orphanet:70591 Chronic thromboembolic pulmonary hypertension True False False +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency True False False +Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency True False False +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency True False False +Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome True False False +Orphanet:70596 Congenital Epstein-Barr virus infection True False False +Orphanet:707 Plague True False False +Orphanet:708 Peters anomaly True False False +Orphanet:709 Peters plus syndrome True False False +Orphanet:71 Chylomicron retention disease True False False +Orphanet:710 Pfeiffer syndrome True False False +Orphanet:71198 Rare pulmonary hypertension True False False +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency True False False +Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly True False False +Orphanet:71203 Autoimmune thrombocytopenia True False False +Orphanet:71209 Rare soft tissue tumor True False False +Orphanet:71211 Neuromyelitis optica spectrum disorder True False False +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency True False False +Orphanet:71213 Retinal capillary malformation True False False +Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome True False False +Orphanet:71271 Split hand-split foot-deafness syndrome True False False +Orphanet:71272 Sandifer syndrome True False False +Orphanet:71273 Renal nutcracker syndrome True False False +Orphanet:71274 Disseminated peritoneal leiomyomatosis True False False +Orphanet:71275 Rh deficiency syndrome True False False +Orphanet:71276 Silent sinus syndrome True False False +Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome True False False +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency True False False +Orphanet:71279 CANOMAD syndrome True False False +Orphanet:71281 Rare central nervous system and retinal vascular disease True False False +Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome True False False +Orphanet:71290 Familial platelet disorder with associated myeloid malignancy True False False +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency True False False +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency True False False +Orphanet:71493 Familial thrombocytosis True False False +Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency True False False +Orphanet:71505 Cancer-associated retinopathy True False False +Orphanet:71517 Rapid-onset dystonia-parkinsonism True False False +Orphanet:71518 Benign paroxysmal torticollis of infancy True False False +Orphanet:71519 Psychogenic movement disorders True False False +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency True False False +Orphanet:71528 Obesity due to prohormone convertase I deficiency True False False +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency True False False +Orphanet:716 Phenylketonuria True False False +Orphanet:718 Isolated Pierre Robin syndrome True False False +Orphanet:71859 Rare genetic neurological disorder True False False +Orphanet:71862 Inherited retinal disorder True False False +Orphanet:71864 Muscular channelopathy True False False +Orphanet:72 Angelman syndrome True False False +Orphanet:720 Pili bifurcati True False False +Orphanet:721 Gray platelet syndrome True False False +Orphanet:722 Hypoplasminogenemia True False False +Orphanet:723 Pneumocystosis True False False +Orphanet:724 Idiopathic acute eosinophilic pneumonia True False False +Orphanet:725 Continuous spikes and waves during sleep True False False +Orphanet:726 Alpers-Huttenlocher syndrome True False False +Orphanet:727 Microscopic polyangiitis True False False +Orphanet:728 Relapsing polychondritis True False False +Orphanet:729 Polycythemia vera True False False +Orphanet:73 Gorham-Stout disease True False False +Orphanet:730 Autosomal dominant polycystic kidney disease True False False +Orphanet:731 Autosomal recessive polycystic kidney disease True False False +Orphanet:732 Polymyositis True False False +Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome True False False +Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome True False False +Orphanet:73229 HANAC syndrome True False False +Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome True False False +Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome True False False +Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome True False False +Orphanet:73256 Central neurocytoma True False False +Orphanet:73260 Paracoccidioidomycosis True False False +Orphanet:73263 Zygomycosis True False False +Orphanet:73267 Non-24-hour sleep-wake syndrome True False False +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect True False False +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency True False False +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance True False False +Orphanet:733 Familial adenomatous polyposis True False False +Orphanet:734 Alpha delta granule deficiency True False False +Orphanet:73423 Acute ackee fruit intoxication True False False +Orphanet:735 Porokeratosis of Mibelli True False False +Orphanet:737 Porokeratosis plantaris palmaris et disseminata True False False +Orphanet:738 Porphyria True False False +Orphanet:739 Prader-Willi syndrome True False False +Orphanet:74 Angiostrongyliasis True False False +Orphanet:740 Hutchinson-Gilford progeria syndrome True False False +Orphanet:741 Familial mitral valve prolapse True False False +Orphanet:742 Prolidase deficiency True False False +Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency True False False +Orphanet:744 Proteus syndrome True False False +Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency True False False +Orphanet:746 Mitochondrial trifunctional protein deficiency True False False +Orphanet:747 Autoimmune pulmonary alveolar proteinosis True False False +Orphanet:748 Mendelian susceptibility to mycobacterial diseases True False False +Orphanet:749 Congenital prekallikrein deficiency True False False +Orphanet:750 Pseudoachondroplasia True False False +Orphanet:75110 Myiasis True False False +Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency True False False +Orphanet:75233 Wolman disease True False False +Orphanet:75234 Cholesteryl ester storage disease True False False +Orphanet:75249 Familial isolated restrictive cardiomyopathy True False False +Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency True False False +Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome True False False +Orphanet:75326 Retinal arterial tortuosity True False False +Orphanet:75327 North Carolina macular dystrophy True False False +Orphanet:75373 Progressive bifocal chorioretinal atrophy True False False +Orphanet:75374 Bradyopsia True False False +Orphanet:75376 Familial drusen True False False +Orphanet:75377 Central areolar choroidal dystrophy True False False +Orphanet:75378 Oligocone trichromacy True False False +Orphanet:75381 Cystoid macular dystrophy True False False +Orphanet:75382 Oguchi disease True False False +Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome True False False +Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency True False False +Orphanet:75392 Periodontal Ehlers-Danlos syndrome True False False +Orphanet:754 Androgen insensitivity syndrome True False False +Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome True False False +Orphanet:75497 X-linked Ehlers-Danlos syndrome True False False +Orphanet:755 Leydig cell hypoplasia True False False +Orphanet:75508 Angioosteohypotrophic syndrome True False False +Orphanet:75563 X-linked sideroblastic anemia True False False +Orphanet:75564 Acquired idiopathic sideroblastic anemia True False False +Orphanet:75565 Tropical endomyocardial fibrosis True False False +Orphanet:75566 Loeffler endocarditis True False False +Orphanet:75567 Primary progressive freezing gait True False False +Orphanet:756 Pseudohypoaldosteronism type 1 True False False +Orphanet:757 Pseudohypoaldosteronism type 2 True False False +Orphanet:758 Pseudoxanthoma elasticum True False False +Orphanet:75840 Ullrich congenital muscular dystrophy True False False +Orphanet:75857 6q terminal deletion syndrome True False False +Orphanet:75858 MORM syndrome True False False +Orphanet:76 Strongyloidiasis True False False +Orphanet:760 Purine nucleoside phosphorylase deficiency True False False +Orphanet:761 Immunoglobulin A vasculitis True False False +Orphanet:763 Pycnodysostosis True False False +Orphanet:764 Pyomyositis True False False +Orphanet:765 Pyruvate dehydrogenase deficiency True False False +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency True False False +Orphanet:767 Polyarteritis nodosa True False False +Orphanet:768 Familial long QT syndrome True False False +Orphanet:769 Rabson-Mendenhall syndrome True False False +Orphanet:770 Rabies True False False +Orphanet:772 Infantile Refsum disease True False False +Orphanet:77240 Primary lymphedema True False False +Orphanet:77258 Trichorhinophalangeal syndrome type 1 True False False +Orphanet:77259 Gaucher disease type 1 True False False +Orphanet:77260 Gaucher disease type 2 True False False +Orphanet:77261 Gaucher disease type 3 True False False +Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency True False False +Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency True False False +Orphanet:77295 Odontoleukodystrophy True False False +Orphanet:77296 Morgagni-Stewart-Morel syndrome True False False +Orphanet:77297 Majeed syndrome True False False +Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome True False False +Orphanet:77299 Microphthalmia-brain atrophy syndrome True False False +Orphanet:773 Refsum disease True False False +Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome True False False +Orphanet:77301 Monosomy 9q22.3 True False False +Orphanet:774 Hereditary hemorrhagic telangiectasia True False False +Orphanet:776 Lujan-Fryns syndrome True False False +Orphanet:777 X-linked non-syndromic intellectual disability True False False +Orphanet:778 Rett syndrome True False False +Orphanet:77828 Genetic obesity True False False +Orphanet:77830 Rare genetic odontologic disease True False False +Orphanet:779 Reynolds syndrome True False False +Orphanet:78 Ankylostomiasis True False False +Orphanet:780 Rhabdomyosarcoma True False False +Orphanet:781 Q fever True False False +Orphanet:782 Axenfeld-Rieger syndrome True False False +Orphanet:783 Rubinstein-Taybi syndrome True False False +Orphanet:785 Estrogen resistance syndrome True False False +Orphanet:786 Generalized glucocorticoid resistance syndrome True False False +Orphanet:79 Congenital alpha2-antiplasmin deficiency True False False +Orphanet:790 Retinoblastoma True False False +Orphanet:79062 Disorder of amino acid and other organic acid metabolism True False False +Orphanet:79076 Juvenile polyposis of infancy True False False +Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis True False False +Orphanet:79083 PPARG-related familial partial lipodystrophy True False False +Orphanet:79084 Familial partial lipodystrophy, Köbberling type True False False +Orphanet:79085 AKT2-related familial partial lipodystrophy True False False +Orphanet:79086 Acquired generalized lipodystrophy True False False +Orphanet:79087 Acquired partial lipodystrophy True False False +Orphanet:79088 Localized lipodystrophy True False False +Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome True False False +Orphanet:79093 Foix-Alajouanine syndrome True False False +Orphanet:79094 Grange syndrome True False False +Orphanet:79095 Congenital bile acid synthesis defect type 4 True False False +Orphanet:79096 Pyridoxal phosphate-responsive seizures True False False +Orphanet:79097 Folinic acid-responsive seizures True False False +Orphanet:79098 Sympathetic ophthalmia True False False +Orphanet:79099 Interstitial granulomatous dermatitis with arthritis True False False +Orphanet:791 Retinitis pigmentosa True False False +Orphanet:79100 Atrophoderma vermiculata True False False +Orphanet:79101 Hyperprolinemia type 2 True False False +Orphanet:79102 Thyrotoxic periodic paralysis True False False +Orphanet:79105 Myxofibrosarcoma True False False +Orphanet:79106 Eiken syndrome True False False +Orphanet:79107 Developmental malformations-deafness-dystonia syndrome True False False +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome True False False +Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome True False False +Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome True False False +Orphanet:79126 Acute interstitial pneumonia True False False +Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome True False False +Orphanet:79128 Lymphoid interstitial pneumonia True False False +Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome True False False +Orphanet:79133 Focal facial dermal dysplasia type I True False False +Orphanet:79134 DEND syndrome True False False +Orphanet:79135 Episodic ataxia type 3 True False False +Orphanet:79136 Episodic ataxia type 4 True False False +Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome True False False +Orphanet:79138 Bickerstaff brainstem encephalitis True False False +Orphanet:79139 Japanese encephalitis True False False +Orphanet:79140 Cutaneous neuroendocrine carcinoma True False False +Orphanet:79141 Hereditary painful callosities True False False +Orphanet:79143 Isolated congenital anonychia True False False +Orphanet:79144 Isolated congenital onychodysplasia True False False +Orphanet:79145 Dowling-Degos disease True False False +Orphanet:79146 Familial progressive hyperpigmentation True False False +Orphanet:79147 Familial reactive perforating collagenosis True False False +Orphanet:79148 Elastosis perforans serpiginosa True False False +Orphanet:79149 Dermochondrocorneal dystrophy True False False +Orphanet:79150 Linear and whorled nevoid hypermelanosis True False False +Orphanet:79151 Acrokeratosis verruciformis of Hopf True False False +Orphanet:79152 Disseminated superficial actinic porokeratosis True False False +Orphanet:79153 Idiopathic trachyonychia True False False +Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria True False False +Orphanet:79155 Hydroxykynureninuria True False False +Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome True False False +Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency True False False +Orphanet:79158 Cerebral organic aciduria True False False +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency True False False +Orphanet:79161 Disorder of carbohydrate metabolism True False False +Orphanet:79163 Classic organic aciduria True False False +Orphanet:79166 Disorder of amino acid absorption and transport True False False +Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification True False False +Orphanet:79168 Disorder of bile acid synthesis True False False +Orphanet:79169 Disorder of neurotransmitter metabolism and transport True False False +Orphanet:79171 Disorder of cobalamin metabolism and transport True False False +Orphanet:79172 Creatine deficiency syndrome True False False +Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism True False False +Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism True False False +Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism True False False +Orphanet:79177 Gluconeogenesis disorder True False False +Orphanet:79178 Glucose transport disorder True False False +Orphanet:79179 Disorder of glycerol metabolism True False False +Orphanet:79181 Disorder of histidine metabolism True False False +Orphanet:79183 Disorder of ketolysis True False False +Orphanet:79185 Disorder of ornithine or proline metabolism True False False +Orphanet:79186 Disorder of pentose phosphate metabolism True False False +Orphanet:79187 Disorder of peptide metabolism True False False +Orphanet:79189 Peroxisome biogenesis disorder True False False +Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism True False False +Orphanet:79191 Disorder of purine metabolism True False False +Orphanet:79192 Disorder of pyridoxine metabolism True False False +Orphanet:79193 Disorder of pyrimidine metabolism True False False +Orphanet:79194 Disorder of serine or glycine metabolism True False False +Orphanet:79195 Sterol biosynthesis disorder True False False +Orphanet:79196 Disorder of the gamma-glutamyl cycle True False False +Orphanet:79197 Disorder of branched-chain amino acid metabolism True False False +Orphanet:792 X-linked retinoschisis True False False +Orphanet:79200 Disorder of energy metabolism True False False +Orphanet:79201 Glycogen storage disease True False False +Orphanet:79207 Disorder of lysosomal amino acid transport True False False +Orphanet:79212 Mucolipidosis True False False +Orphanet:79214 Disorder of biogenic amine metabolism and transport True False False +Orphanet:79215 Oligosaccharidosis True False False +Orphanet:79217 Other metabolic disease with skin involvement True False False +Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency True False False +Orphanet:79224 Disorder of purine or pyrimidine metabolism True False False +Orphanet:79226 Sterol metabolism disorder True False False +Orphanet:79230 HJV or HAMP-related hemochromatosis True False False +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency True False False +Orphanet:79234 Crigler-Najjar syndrome type 1 True False False +Orphanet:79235 Crigler-Najjar syndrome type 2 True False False +Orphanet:79237 Galactokinase deficiency True False False +Orphanet:79238 Galactose epimerase deficiency True False False +Orphanet:79239 Classic galactosemia True False False +Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency True False False +Orphanet:79241 Biotinidase deficiency True False False +Orphanet:79242 Holocarboxylase synthetase deficiency True False False +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency True False False +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency True False False +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency True False False +Orphanet:79253 Mild phenylketonuria True False False +Orphanet:79254 Classic phenylketonuria True False False +Orphanet:79255 GM1 gangliosidosis type 1 True False False +Orphanet:79256 GM1 gangliosidosis type 2 True False False +Orphanet:79257 GM1 gangliosidosis type 3 True False False +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia True False False +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib True False False +Orphanet:79262 Adult neuronal ceroid lipofuscinosis True False False +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis True False False +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis True False False +Orphanet:79269 Sanfilippo syndrome type A True False False +Orphanet:79270 Sanfilippo syndrome type B True False False +Orphanet:79271 Sanfilippo syndrome type C True False False +Orphanet:79272 Sanfilippo syndrome type D True False False +Orphanet:79273 Hereditary coproporphyria True False False +Orphanet:79276 Acute intermittent porphyria True False False +Orphanet:79277 Congenital erythropoietic porphyria True False False +Orphanet:79278 Autosomal erythropoietic protoporphyria True False False +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 True False False +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 True False False +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 True False False +Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC True False False +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD True False False +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF True False False +Orphanet:79292 Fish-eye disease True False False +Orphanet:79293 Familial LCAT deficiency True False False +Orphanet:79298 Diazoxide-resistant focal hyperinsulinism True False False +Orphanet:79299 Congenital glucokinase-related hyperinsulinism True False False +Orphanet:793 SAPHO syndrome True False False +Orphanet:79301 Congenital bile acid synthesis defect type 1 True False False +Orphanet:79302 Congenital bile acid synthesis defect type 3 True False False +Orphanet:79303 Congenital bile acid synthesis defect type 2 True False False +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 True False False +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 True False False +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 True False False +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA True False False +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB True False False +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- True False False +Orphanet:79314 L-2-hydroxyglutaric aciduria True False False +Orphanet:79315 D-2-hydroxyglutaric aciduria True False False +Orphanet:79318 PMM2-CDG True False False +Orphanet:79319 MPI-CDG True False False +Orphanet:79320 ALG6-CDG True False False +Orphanet:79321 ALG3-CDG True False False +Orphanet:79322 DPM1-CDG True False False +Orphanet:79323 MPDU1-CDG True False False +Orphanet:79324 ALG12-CDG True False False +Orphanet:79325 ALG8-CDG True False False +Orphanet:79326 ALG2-CDG True False False +Orphanet:79327 ALG1-CDG True False False +Orphanet:79328 ALG9-CDG True False False +Orphanet:79329 MGAT2-CDG True False False +Orphanet:79330 MOGS-CDG True False False +Orphanet:79332 B4GALT1-CDG True False False +Orphanet:79333 COG7-CDG True False False +Orphanet:79345 Brachytelephalangic chondrodysplasia punctata True False False +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type True False False +Orphanet:79347 Chondrodysplasia punctata, Toriello type True False False +Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form True False False +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form True False False +Orphanet:79353 Epidermal disease True False False +Orphanet:79354 Ichthyosis True False False +Orphanet:79355 Erythrokeratoderma True False False +Orphanet:79356 Acrokeratoderma True False False +Orphanet:79357 Hereditary palmoplantar keratoderma True False False +Orphanet:79358 Porokeratosis True False False +Orphanet:79359 Other epidermal disorder True False False +Orphanet:79360 Other genetic epidermal disease True False False +Orphanet:79361 Inherited epidermolysis bullosa True False False +Orphanet:79362 Epidermal appendage anomaly True False False +Orphanet:79363 Hair anomaly True False False +Orphanet:79364 Alopecia True False False +Orphanet:79365 Rare disorder with hypertrichosis True False False +Orphanet:79366 Isolated hair shaft abnormality True False False +Orphanet:79367 Syndromic hair shaft abnormality True False False +Orphanet:79368 Nail anomaly True False False +Orphanet:79369 Isolated nail anomaly True False False +Orphanet:79370 Syndromic nail anomaly True False False +Orphanet:79372 Sebaceous gland anomaly True False False +Orphanet:79373 Ectodermal dysplasia syndrome True False False +Orphanet:79374 Pigmentation anomaly of the skin True False False +Orphanet:79375 Hyperpigmentation of the skin True False False +Orphanet:79376 Hypopigmentation of the skin True False False +Orphanet:79377 Dermis disorder True False False +Orphanet:79378 Dermis elastic tissue disorder True False False +Orphanet:79379 Skin vascular disease True False False +Orphanet:79380 Mixed dermis disorder True False False +Orphanet:79381 Other dermis disorder True False False +Orphanet:79382 Subcutaneous tissue disease True False False +Orphanet:79384 Rare urticaria True False False +Orphanet:79385 Unclassified genetic skin disorder True False False +Orphanet:79386 Rare skin tumor or hamartoma True False False +Orphanet:79387 Metabolic disease with skin involvement True False False +Orphanet:79388 Mucopolysaccharidosis with skin involvement True False False +Orphanet:79389 Premature aging True False False +Orphanet:79390 Rare photodermatosis True False False +Orphanet:79391 Immune deficiency with skin involvement True False False +Orphanet:79394 Congenital ichthyosiform erythroderma True False False +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis True False False +Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form True False False +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation True False False +Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form True False False +Orphanet:794 Saethre-Chotzen syndrome True False False +Orphanet:79400 Localized epidermolysis bullosa simplex True False False +Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement True False False +Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa True False False +Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia True False False +Orphanet:79404 Severe generalized junctional epidermolysis bullosa True False False +Orphanet:79405 Junctional epidermolysis bullosa inversa True False False +Orphanet:79406 Late-onset junctional epidermolysis bullosa True False False +Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form True False False +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa True False False +Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form True False False +Orphanet:79411 Self-improving dystrophic epidermolysis bullosa True False False +Orphanet:79414 Woolly hair nevus True False False +Orphanet:79430 Hermansky-Pudlak syndrome True False False +Orphanet:79431 Oculocutaneous albinism type 1A True False False +Orphanet:79432 Oculocutaneous albinism type 2 True False False +Orphanet:79433 Oculocutaneous albinism type 3 True False False +Orphanet:79434 Oculocutaneous albinism type 1B True False False +Orphanet:79435 Oculocutaneous albinism type 4 True False False +Orphanet:79443 Pseudohypoparathyroidism type 1A True False False +Orphanet:79444 Pseudohypoparathyroidism type 1C True False False +Orphanet:79445 Pseudopseudohypoparathyroidism True False False +Orphanet:79447 X-linked lethal multiple pterygium syndrome True False False +Orphanet:79452 Milroy disease True False False +Orphanet:79455 Cutaneous mastocytoma True False False +Orphanet:79456 Diffuse cutaneous mastocytosis True False False +Orphanet:79457 Maculopapular cutaneous mastocytosis True False False +Orphanet:79466 Inflammatory linear verrucous epidermal nevus True False False +Orphanet:79467 Verrucous nevus True False False +Orphanet:79468 Acanthokeratolytic verrucous nevus True False False +Orphanet:79473 Porphyria variegata True False False +Orphanet:79474 Atypical Werner syndrome True False False +Orphanet:79476 Griscelli syndrome type 1 True False False +Orphanet:79477 Griscelli syndrome type 2 True False False +Orphanet:79478 Griscelli syndrome type 3 True False False +Orphanet:79479 Pemphigus vegetans True False False +Orphanet:79480 Pemphigus erythematosus True False False +Orphanet:79481 Pemphigus foliaceus True False False +Orphanet:79483 Phakomatosis cesioflammea True False False +Orphanet:79484 Phakomatosis cesiomarmorata True False False +Orphanet:79485 Phakomatosis spilorosea True False False +Orphanet:79489 Macrocystic lymphatic malformation True False False +Orphanet:79490 Microcystic lymphatic malformation True False False +Orphanet:79492 Pili gemini True False False +Orphanet:79493 Brooke-Spiegler syndrome True False False +Orphanet:79495 X-linked congenital generalized hypertrichosis True False False +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome True False False +Orphanet:795 Rare form of salmonellosis True False False +Orphanet:79500 DOORS syndrome True False False +Orphanet:79501 Punctate palmoplantar keratoderma type 1 True False False +Orphanet:79502 Punctate palmoplantar keratoderma type 2 True False False +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin True False False +Orphanet:79506 Cholesterol-ester transfer protein deficiency True False False +Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome True False False +Orphanet:796 Sandhoff disease True False False +Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency True False False +Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency True False False +Orphanet:79651 Mild hyperphenylalaninemia True False False +Orphanet:79665 Gardner syndrome True False False +Orphanet:79669 Autoimmune bullous skin disease True False False +Orphanet:797 Sarcoidosis True False False +Orphanet:798 Schinzel-Giedion syndrome True False False +Orphanet:799 Schizencephaly True False False +Orphanet:8 47,XYY syndrome True False False +Orphanet:80 Antiphospholipid syndrome True False False +Orphanet:800 Schwartz-Jampel syndrome True False False +Orphanet:801 Scleroderma True False False +Orphanet:803 Amyotrophic lateral sclerosis True False False +Orphanet:805 Tuberous sclerosis complex True False False +Orphanet:806 Scott syndrome True False False +Orphanet:808 Seckel syndrome True False False +Orphanet:809 Mixed connective tissue disease True False False +Orphanet:81 Antisynthetase syndrome True False False +Orphanet:810 Shigellosis True False False +Orphanet:811 Shwachman-Diamond syndrome True False False +Orphanet:812 Sialidosis type 1 True False False +Orphanet:813 Silver-Russell syndrome True False False +Orphanet:816 Sjögren-Larsson syndrome True False False +Orphanet:817 Peeling skin syndrome True False False +Orphanet:818 Smith-Lemli-Opitz syndrome True False False +Orphanet:819 Smith-Magenis syndrome True False False +Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency True False False +Orphanet:820 Sneddon syndrome True False False +Orphanet:821 Sotos syndrome True False False +Orphanet:822 Hereditary spherocytosis True False False +Orphanet:823 Spina bifida and other spinal dysraphisms True False False +Orphanet:824 Primary myelofibrosis True False False +Orphanet:826 Sporotrichosis True False False +Orphanet:827 Stargardt disease True False False +Orphanet:828 Stickler syndrome True False False +Orphanet:829 Adult-onset Still disease True False False +Orphanet:83 Antley-Bixler syndrome True False False +Orphanet:83001 Urogenital tract malformation True False False +Orphanet:831 Congenital cervical spinal stenosis True False False +Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency True False False +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency True False False +Orphanet:83311 Rocky Mountain spotted fever True False False +Orphanet:83312 Rickettsialpox True False False +Orphanet:83313 Boutonneuse fever True False False +Orphanet:83314 Epidemic typhus True False False +Orphanet:83315 Murine typhus True False False +Orphanet:83316 Pseudotyphus of California True False False +Orphanet:83317 Scrub typhus True False False +Orphanet:83330 Proximal spinal muscular atrophy type 1 True False False +Orphanet:834 Free sialic acid storage disease True False False +Orphanet:83418 Proximal spinal muscular atrophy type 2 True False False +Orphanet:83419 Proximal spinal muscular atrophy type 3 True False False +Orphanet:83420 Proximal spinal muscular atrophy type 4 True False False +Orphanet:83450 Regional odontodysplasia True False False +Orphanet:83451 Florid cemento-osseous dysplasia True False False +Orphanet:83452 Complex regional pain syndrome True False False +Orphanet:83453 Vulvovaginal gingival syndrome True False False +Orphanet:83454 Glomuvenous malformation True False False +Orphanet:83461 Congenital primary aphakia True False False +Orphanet:83463 Microtia True False False +Orphanet:83465 Narcolepsy type 2 True False False +Orphanet:83467 Morvan syndrome True False False +Orphanet:83468 Solitary bone cyst True False False +Orphanet:83469 Desmoplastic small round cell tumor True False False +Orphanet:83471 T-cell immunodeficiency with thymic aplasia True False False +Orphanet:83472 CAMOS syndrome True False False +Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome True False False +Orphanet:83476 West-Nile encephalitis True False False +Orphanet:83482 Mycoplasma encephalitis True False False +Orphanet:83483 La Crosse encephalitis True False False +Orphanet:83484 St. Louis encephalitis True False False +Orphanet:83593 Western equine encephalitis True False False +Orphanet:83594 Eastern equine encephalitis True False False +Orphanet:83595 Colorado tick fever True False False +Orphanet:83597 Acute disseminated encephalomyelitis True False False +Orphanet:83600 Encephalitis lethargica True False False +Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis True False False +Orphanet:83616 Rubella panencephalitis True False False +Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome True False False +Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome True False False +Orphanet:83620 Enteric anendocrinosis True False False +Orphanet:83628 LUMBAR syndrome True False False +Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome True False False +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency True False False +Orphanet:83642 Microcytic anemia with liver iron overload True False False +Orphanet:838 Susac syndrome True False False +Orphanet:839 Congenital nephrotic syndrome, Finnish type True False False +Orphanet:84 Fanconi anemia True False False +Orphanet:840 Syringocystadenoma papilliferum True False False +Orphanet:84064 Syndromic diarrhea True False False +Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects True False False +Orphanet:84081 Senior-Boichis syndrome True False False +Orphanet:84085 Hinman syndrome True False False +Orphanet:84087 Collagen type III glomerulopathy True False False +Orphanet:84090 Fibronectin glomerulopathy True False False +Orphanet:84093 Hereditary thermosensitive neuropathy True False False +Orphanet:841 Sebocystomatosis True False False +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions True False False +Orphanet:84142 Isaacs syndrome True False False +Orphanet:842 Testicular seminomatous germ cell tumor True False False +Orphanet:844 Lown-Ganong-Levine syndrome True False False +Orphanet:845 Tay-Sachs disease True False False +Orphanet:846 Alpha-thalassemia True False False +Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome True False False +Orphanet:848 Beta-thalassemia True False False +Orphanet:849 Glanzmann thrombasthenia True False False +Orphanet:85 Congenital dyserythropoietic anemia True False False +Orphanet:851 Paris-Trousseau thrombocytopenia True False False +Orphanet:85102 Perineurioma True False False +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies True False False +Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome True False False +Orphanet:85128 Bothnia retinal dystrophy True False False +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly True False False +Orphanet:85138 Addison disease True False False +Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type True False False +Orphanet:85162 Facial onset sensory and motor neuronopathy True False False +Orphanet:85163 Hypomyelination-congenital cataract syndrome True False False +Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome True False False +Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome True False False +Orphanet:85166 Platyspondylic dysplasia, Torrance type True False False +Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome True False False +Orphanet:85168 Craniofacial conodysplasia True False False +Orphanet:85169 Familial digital arthropathy-brachydactyly True False False +Orphanet:85170 Mesomelic dysplasia, Savarirayan type True False False +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type True False False +Orphanet:85173 IMAGe syndrome True False False +Orphanet:85174 Pseudodiastrophic dysplasia True False False +Orphanet:85175 Astley-Kendall dysplasia True False False +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia True False False +Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome True False False +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type True False False +Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome True False False +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type True False False +Orphanet:85191 Singleton-Merten dysplasia True False False +Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome True False False +Orphanet:85193 Idiopathic juvenile osteoporosis True False False +Orphanet:85194 Spondylo-ocular syndrome True False False +Orphanet:85195 Familial expansile osteolysis True False False +Orphanet:85197 Genochondromatosis type 1 True False False +Orphanet:85198 Dysspondyloenchondromatosis True False False +Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome True False False +Orphanet:852 X-linked thrombocytopenia with normal platelets True False False +Orphanet:85200 Ischiovertebral syndrome True False False +Orphanet:85201 Genitopatellar syndrome True False False +Orphanet:85202 Keutel syndrome True False False +Orphanet:85203 Acropectoral syndrome True False False +Orphanet:85212 Fetal Gaucher disease True False False +Orphanet:85273 X-linked intellectual disability, Abidi type True False False +Orphanet:85274 Syndromic X-linked intellectual disability 7 True False False +Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome True False False +Orphanet:85276 X-linked intellectual disability, Armfield type True False False +Orphanet:85277 X-linked intellectual disability, Cantagrel type True False False +Orphanet:85278 Christianson syndrome True False False +Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability True False False +Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome True False False +Orphanet:85282 MEHMO syndrome True False False +Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type True False False +Orphanet:85284 BRESEK syndrome True False False +Orphanet:85285 X-linked intellectual disability, Schimke type True False False +Orphanet:85286 X-linked intellectual disability, Shashi type True False False +Orphanet:85287 X-linked intellectual disability, Siderius type True False False +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type True False False +Orphanet:85290 X-linked intellectual disability, Wilson type True False False +Orphanet:85292 X-linked spinocerebellar ataxia type 4 True False False +Orphanet:85293 X-linked intellectual disability, Cabezas type True False False +Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome True False False +Orphanet:85295 HSD10 disease, atypical type True False False +Orphanet:85297 X-linked spinocerebellar ataxia type 3 True False False +Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia True False False +Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome True False False +Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome True False False +Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome True False False +Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type True False False +Orphanet:85322 X-linked intellectual disability, Pai type True False False +Orphanet:85323 X-linked intellectual disability, Seemanova type True False False +Orphanet:85324 X-linked intellectual disability, Shrimpton type True False False +Orphanet:85325 X-linked intellectual disability, Stevenson type True False False +Orphanet:85326 X-linked intellectual disability, Stoll type True False False +Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome True False False +Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome True False False +Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome True False False +Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type True False False +Orphanet:85335 Fried syndrome True False False +Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type True False False +Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome True False False +Orphanet:854 Primitive portal vein thrombosis True False False +Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis True False False +Orphanet:85410 Oligoarticular juvenile idiopathic arthritis True False False +Orphanet:85414 Systemic-onset juvenile idiopathic arthritis True False False +Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis True False False +Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis True False False +Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis True False False +Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome True False False +Orphanet:85443 AL amyloidosis True False False +Orphanet:85445 AA amyloidosis True False False +Orphanet:85446 Wild type ABeta2M amyloidosis True False False +Orphanet:85447 ATTRV30M amyloidosis True False False +Orphanet:85448 AGel amyloidosis True False False +Orphanet:85450 Hereditary amyloidosis with primary renal involvement True False False +Orphanet:85451 ATTRV122I amyloidosis True False False +Orphanet:85453 X-linked reticulate pigmentary disorder True False False +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis True False False +Orphanet:857 Townes-Brocks syndrome True False False +Orphanet:858 Congenital toxoplasmosis True False False +Orphanet:859 Transcobalamin deficiency True False False +Orphanet:86 Familial abdominal aortic aneurysm True False False +Orphanet:860 Congenitally uncorrected transposition of the great arteries True False False +Orphanet:861 Treacher-Collins syndrome True False False +Orphanet:863 Trichinellosis True False False +Orphanet:86309 DPAGT1-CDG True False False +Orphanet:864 Trichofolliculoma True False False +Orphanet:867 Familial multiple trichoepithelioma True False False +Orphanet:86788 X-linked severe congenital neutropenia True False False +Orphanet:86789 Patella aplasia/hypoplasia True False False +Orphanet:86795 Localized lichen myxedematosus True False False +Orphanet:86797 Atypical lichen myxedematosus True False False +Orphanet:868 Triose phosphate-isomerase deficiency True False False +Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 True False False +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration True False False +Orphanet:86814 Benign adult familial myoclonic epilepsy True False False +Orphanet:86815 Aplasia of lacrimal and salivary glands True False False +Orphanet:86816 Congenital analbuminemia True False False +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency True False False +Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome True False False +Orphanet:86819 Atrichia with papular lesions True False False +Orphanet:86820 Familial avascular necrosis of femoral head True False False +Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome True False False +Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome True False False +Orphanet:86823 Lissencephaly with cerebellar hypoplasia True False False +Orphanet:86829 Chronic neutrophilic leukemia True False False +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable True False False +Orphanet:86834 Juvenile myelomonocytic leukemia True False False +Orphanet:86839 Refractory anemia with excess blasts True False False +Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality True False False +Orphanet:86843 Acute panmyelosis with myelofibrosis True False False +Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features True False False +Orphanet:86849 Acute basophilic leukemia True False False +Orphanet:86850 Myeloid sarcoma True False False +Orphanet:86852 B-cell prolymphocytic leukemia True False False +Orphanet:86854 Splenic marginal zone lymphoma True False False +Orphanet:86855 Plasmacytoma True False False +Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease True False False +Orphanet:86864 Heavy chain disease True False False +Orphanet:86867 Nodal marginal zone B-cell lymphoma True False False +Orphanet:86869 Lymphomatoid granulomatosis True False False +Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm True False False +Orphanet:86871 T-cell prolymphocytic leukemia True False False +Orphanet:86872 T-cell large granular lymphocyte leukemia True False False +Orphanet:86873 Aggressive NK-cell leukemia True False False +Orphanet:86875 Adult T-cell leukemia/lymphoma True False False +Orphanet:86879 Extranodal nasal NK/T cell lymphoma True False False +Orphanet:86880 Enteropathy-associated T-cell lymphoma True False False +Orphanet:86882 Hepatosplenic T-cell lymphoma True False False +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma True False False +Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified True False False +Orphanet:86886 Angioimmunoblastic T-cell lymphoma True False False +Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma True False False +Orphanet:86896 Histiocytic sarcoma True False False +Orphanet:86897 Langerhans cell sarcoma True False False +Orphanet:869 Triple A syndrome True False False +Orphanet:86900 Interdigitating dendritic cell sarcoma True False False +Orphanet:86902 Follicular dendritic cell sarcoma True False False +Orphanet:86903 Dendritic cell sarcoma not otherwise specified True False False +Orphanet:86904 Methotrexate-associated lymphoproliferative disorders True False False +Orphanet:86906 Hypothalamic hamartomas with gelastic seizures True False False +Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome True False False +Orphanet:86909 Myoclonic epilepsy of infancy True False False +Orphanet:86911 Epilepsy with myoclonic absences True False False +Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies True False False +Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome True False False +Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome True False False +Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome True False False +Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome True False False +Orphanet:86920 Dermatopathia pigmentosa reticularis True False False +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type True False False +Orphanet:87 Apert syndrome True False False +Orphanet:870 Down syndrome True False False +Orphanet:871 Familial progressive cardiac conduction defect True False False +Orphanet:87277 Rare intellectual disability True False False +Orphanet:873 Desmoid tumor True False False +Orphanet:874 Primary adult heart tumor True False False +Orphanet:875 Primary pediatric heart tumor True False False +Orphanet:87503 Mal de Meleda True False False +Orphanet:876 Yolk sac tumor True False False +Orphanet:877 Neuroendocrine neoplasm True False False +Orphanet:87876 Sialidosis type 2 True False False +Orphanet:87884 Non-syndromic genetic deafness True False False +Orphanet:879 Tungiasis True False False +Orphanet:88 Idiopathic aplastic anemia True False False +Orphanet:881 Turner syndrome True False False +Orphanet:882 Tyrosinemia type 1 True False False +Orphanet:883 Extragonadal teratoma True False False +Orphanet:884 Tetrasomy 12p True False False +Orphanet:886 Usher syndrome True False False +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability True False False +Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency True False False +Orphanet:88619 Familial acute necrotizing encephalopathy True False False +Orphanet:88620 Isolated congenital anosmia True False False +Orphanet:88621 Ichthyosis-prematurity syndrome True False False +Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome True False False +Orphanet:88629 Tritanopia True False False +Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome True False False +Orphanet:88632 Anterior segment developmental anomaly True False False +Orphanet:88633 Superior limbic keratoconjunctivitis True False False +Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates True False False +Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome True False False +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency True False False +Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy True False False +Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome True False False +Orphanet:88644 Autosomal recessive ataxia, Beauce type True False False +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension True False False +Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor True False False +Orphanet:88661 Amelogenesis imperfecta True False False +Orphanet:887 VACTERL/VATER association True False False +Orphanet:888 Van der Woude syndrome True False False +Orphanet:889 Cutaneous small vessel vasculitis True False False +Orphanet:88917 X-linked Alport syndrome True False False +Orphanet:88918 Autosomal dominant Alport syndrome True False False +Orphanet:88919 Autosomal recessive Alport syndrome True False False +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis True False False +Orphanet:88938 Pseudohypoaldosteronism type 2A True False False +Orphanet:88939 Pseudohypoaldosteronism type 2B True False False +Orphanet:88940 Pseudohypoaldosteronism type 2C True False False +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease True False False +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease True False False +Orphanet:88991 Rare congenital non-syndromic heart malformation True False False +Orphanet:88993 Esophageal malformation True False False +Orphanet:890 Hepatic veno-occlusive disease True False False +Orphanet:89043 Rare dementia True False False +Orphanet:891 Familial exudative vitreoretinopathy True False False +Orphanet:892 Von Hippel-Lindau disease True False False +Orphanet:893 WAGR syndrome True False False +Orphanet:894 Waardenburg syndrome type 1 True False False +Orphanet:895 Waardenburg syndrome type 2 True False False +Orphanet:896 Waardenburg syndrome type 3 True False False +Orphanet:897 Waardenburg-Shah syndrome True False False +Orphanet:898 Wagner disease True False False +Orphanet:89826 Rare skin disease True False False +Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex True False False +Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form True False False +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa True False False +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type True False False +Orphanet:899 Walker-Warburg syndrome True False False +Orphanet:89936 X-linked hypophosphatemia True False False +Orphanet:89937 Autosomal dominant hypophosphatemic rickets True False False +Orphanet:89938 Bartter syndrome type 4 True False False +Orphanet:9 Tetrasomy X True False False +Orphanet:90 Argininemia True False False +Orphanet:900 Granulomatosis with polyangiitis True False False +Orphanet:90000 Erythema elevatum diutinum True False False +Orphanet:90001 X-linked cone dysfunction syndrome with myopia True False False +Orphanet:90002 Undifferentiated connective tissue syndrome True False False +Orphanet:90003 Inflammatory pseudotumor of the liver True False False +Orphanet:90020 Parkinson-dementia complex of Guam True False False +Orphanet:90021 Radiation myelitis True False False +Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency True False False +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia True False False +Orphanet:90025 Non-syndromic syndactyly True False False +Orphanet:90026 Primary erythromelalgia True False False +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency True False False +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency True False False +Orphanet:90033 Autoimmune hemolytic anemia, warm type True False False +Orphanet:90035 Paroxysmal cold hemoglobinuria True False False +Orphanet:90036 Mixed-type autoimmune hemolytic anemia True False False +Orphanet:90037 Drug-induced autoimmune hemolytic anemia True False False +Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome True False False +Orphanet:90039 Hemoglobin D disease True False False +Orphanet:90041 Gaisböck syndrome True False False +Orphanet:90042 Primary familial polycythemia True False False +Orphanet:90044 Familial pseudohyperkalemia True False False +Orphanet:90045 Hereditary folate malabsorption True False False +Orphanet:90050 Retinopathy of prematurity True False False +Orphanet:90058 Spinal cord injury True False False +Orphanet:90059 Sudden sensorineural hearing loss True False False +Orphanet:90060 Diffuse alveolar hemorrhage True False False +Orphanet:90061 Non-infectious posterior uveitis True False False +Orphanet:90062 Acute liver failure True False False +Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage True False False +Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection True False False +Orphanet:90068 Cocaine intoxication True False False +Orphanet:90069 Systemic monochloroacetate poisoning True False False +Orphanet:90077 Other acquired skin disease True False False +Orphanet:90081 AIDS wasting syndrome True False False +Orphanet:901 Wells syndrome True False False +Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome True False False +Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease True False False +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type True False False +Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency True False False +Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy True False False +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 True False False +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy True False False +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy True False False +Orphanet:90156 Centrifugal lipodystrophy True False False +Orphanet:90157 Drug-induced localized lipodystrophy True False False +Orphanet:90158 Idiopathic localized lipodystrophy True False False +Orphanet:90159 Panniculitis-induced localized lipodystrophy True False False +Orphanet:90160 Pressure-induced localized lipoatrophy True False False +Orphanet:90186 Meige disease True False False +Orphanet:902 Werner syndrome True False False +Orphanet:90280 Chilblain lupus True False False +Orphanet:90281 Discoid lupus erythematosus True False False +Orphanet:90282 Hypertrophic or verrucous lupus erythematosus True False False +Orphanet:90283 Lupus erythematosus tumidus True False False +Orphanet:90285 Lupus erythematosus panniculitis True False False +Orphanet:90289 Localized scleroderma True False False +Orphanet:90291 Systemic sclerosis True False False +Orphanet:903 Von Willebrand disease True False False +Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome True False False +Orphanet:90307 Parkes Weber syndrome True False False +Orphanet:90308 Klippel-Trénaunay syndrome True False False +Orphanet:90321 Cockayne syndrome type 1 True False False +Orphanet:90322 Cockayne syndrome type 2 True False False +Orphanet:90324 Cockayne syndrome type 3 True False False +Orphanet:90340 Blau syndrome True False False +Orphanet:90342 Xeroderma pigmentosum variant True False False +Orphanet:90348 Autosomal dominant cutis laxa True False False +Orphanet:90349 Autosomal recessive cutis laxa type 1 True False False +Orphanet:90350 Autosomal recessive cutis laxa type 2 True False False +Orphanet:90354 Brittle cornea syndrome True False False +Orphanet:90362 Primary intestinal lymphangiectasia True False False +Orphanet:90363 Secondary intestinal lymphangiectasia True False False +Orphanet:90368 Hypotrichosis simplex of the scalp True False False +Orphanet:90389 Telangiectasia macularis eruptiva perstans True False False +Orphanet:90390 Anonychia-onychodystrophy syndrome True False False +Orphanet:90393 Nodular lichen myxedematosus True False False +Orphanet:90394 Discrete papular lichen myxedematosus True False False +Orphanet:90395 Papular mucinosis of infancy True False False +Orphanet:90396 Acral persistent papular mucinosis True False False +Orphanet:90397 Self-healing papular mucinosis True False False +Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes True False False +Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms True False False +Orphanet:904 Williams syndrome True False False +Orphanet:90400 Scleromyxedema without monoclonal gammopathy True False False +Orphanet:905 Wilson disease True False False +Orphanet:906 Wiskott-Aldrich syndrome True False False +Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN True False False +Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA True False False +Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB True False False +Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness True False False +Orphanet:90642 Syndromic genetic deafness True False False +Orphanet:90646 Deafness-hypogonadism syndrome True False False +Orphanet:90647 Jervell and Lange-Nielsen syndrome True False False +Orphanet:90650 Otopalatodigital syndrome type 1 True False False +Orphanet:90652 Otopalatodigital syndrome type 2 True False False +Orphanet:90653 Stickler syndrome type 1 True False False +Orphanet:90654 Stickler syndrome type 2 True False False +Orphanet:90658 Charcot-Marie-Tooth disease type 1E True False False +Orphanet:90673 Hypothyroidism due to TSH receptor mutations True False False +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency True False False +Orphanet:90692 Rare endocrine growth disease True False False +Orphanet:90695 Non-acquired panhypopituitarism True False False +Orphanet:90771 Difference of sex development True False False +Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess True False False +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency True False False +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency True False False +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency True False False +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency True False False +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency True False False +Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency True False False +Orphanet:90797 Partial androgen insensitivity syndrome True False False +Orphanet:908 Fragile X syndrome True False False +Orphanet:909 Cerebrotendinous xanthomatosis True False False +Orphanet:90970 Primary lipodystrophy True False False +Orphanet:91 Aromatase deficiency True False False +Orphanet:910 Xeroderma pigmentosum True False False +Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy True False False +Orphanet:91088 Other metabolic disease True False False +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency True False False +Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome True False False +Orphanet:91131 DK1-CDG True False False +Orphanet:91132 Ichthyosis-hypotrichosis syndrome True False False +Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency True False False +Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome True False False +Orphanet:91138 Cryoglobulinemic vasculitis True False False +Orphanet:91139 Simple cryoglobulinemia True False False +Orphanet:91140 Unspecified juvenile idiopathic arthritis True False False +Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen True False False +Orphanet:912 Zellweger syndrome True False False +Orphanet:913 Zollinger-Ellison syndrome True False False +Orphanet:91347 TSH-secreting pituitary adenoma True False False +Orphanet:91348 Functioning gonadotropic adenoma True False False +Orphanet:91349 Non-functioning pituitary adenoma True False False +Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts True False False +Orphanet:91351 Pituitary dermoid and epidermoid cysts True False False +Orphanet:91352 Germinoma of the central nervous system True False False +Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome True False False +Orphanet:91355 Sheehan syndrome True False False +Orphanet:91357 Duplication of the esophagus True False False +Orphanet:91358 Congenital esophageal diverticulum True False False +Orphanet:91359 Chronic pneumonitis of infancy True False False +Orphanet:91364 Non-specific interstitial pneumonia True False False +Orphanet:91378 Hereditary angioedema True False False +Orphanet:91385 Acquired angioedema True False False +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection True False False +Orphanet:91396 Isolated cryptophthalmia True False False +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum True False False +Orphanet:91411 Congenital ptosis True False False +Orphanet:91412 Marcus-Gunn syndrome True False False +Orphanet:91413 Congenital Horner syndrome True False False +Orphanet:91414 Pilomatrixoma True False False +Orphanet:91416 Isolated congenital alacrima True False False +Orphanet:91481 Ring dermoid of cornea True False False +Orphanet:91483 Rieger anomaly True False False +Orphanet:91489 Isolated congenital megalocornea True False False +Orphanet:91490 Isolated congenital sclerocornea True False False +Orphanet:91491 Congenital ectropion uveae True False False +Orphanet:91492 Early-onset non-syndromic cataract True False False +Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome True False False +Orphanet:91495 Persistent hyperplastic primary vitreous True False False +Orphanet:91496 Snowflake vitreoretinal degeneration True False False +Orphanet:91498 Familial congenital palsy of trochlear nerve True False False +Orphanet:915 Aarskog-Scott syndrome True False False +Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome True False False +Orphanet:91546 Lyme disease True False False +Orphanet:91547 Relapsing fever True False False +Orphanet:916 Aase-Smith syndrome True False False +Orphanet:920 Ablepharon macrostomia syndrome True False False +Orphanet:92050 Congenital tufting enteropathy True False False +Orphanet:921 Abruzzo-Erickson syndrome True False False +Orphanet:922 Familial nasal acilia True False False +Orphanet:926 Acatalasemia True False False +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency True False False +Orphanet:929 Achalasia-microcephaly syndrome True False False +Orphanet:93 Aspartylglucosaminuria True False False +Orphanet:930 Idiopathic achalasia True False False +Orphanet:931 Acheiropodia True False False +Orphanet:93100 Renal agenesis, unilateral True False False +Orphanet:93101 Renal hypoplasia True False False +Orphanet:93108 Renal dysplasia True False False +Orphanet:93109 Congenital megacalycosis True False False +Orphanet:93110 Posterior urethral valve True False False +Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease True False False +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E True False False +Orphanet:93126 Pauci-immune glomerulonephritis True False False +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets True False False +Orphanet:93164 Transient pseudohypoaldosteronism True False False +Orphanet:93172 Renal dysplasia, unilateral True False False +Orphanet:93173 Renal dysplasia, bilateral True False False +Orphanet:93176 Unilateral congenital megacalycosis True False False +Orphanet:93177 Congenital bilateral megacalycosis True False False +Orphanet:932 Achondrogenesis True False False +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome True False False +Orphanet:93258 Pfeiffer syndrome type 1 True False False +Orphanet:93259 Pfeiffer syndrome type 2 True False False +Orphanet:93260 Pfeiffer syndrome type 3 True False False +Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome True False False +Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome True False False +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type True False False +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type True False False +Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type True False False +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type True False False +Orphanet:93274 Thanatophoric dysplasia type 2 True False False +Orphanet:93276 Polyostotic fibrous dysplasia True False False +Orphanet:93277 Monostotic fibrous dysplasia True False False +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis True False False +Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type True False False +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type True False False +Orphanet:93284 Spondyloepiphyseal dysplasia tarda True False False +Orphanet:93292 Adenoma of pancreas True False False +Orphanet:93293 Okihiro syndrome True False False +Orphanet:93296 Achondrogenesis type 2 True False False +Orphanet:93297 Hypochondrogenesis True False False +Orphanet:93298 Achondrogenesis type 1B True False False +Orphanet:93299 Achondrogenesis type 1A True False False +Orphanet:93302 Brachyolmia, Maroteaux type True False False +Orphanet:93304 Autosomal dominant brachyolmia True False False +Orphanet:93307 Multiple epiphyseal dysplasia type 4 True False False +Orphanet:93308 Multiple epiphyseal dysplasia type 1 True False False +Orphanet:93311 Multiple epiphyseal dysplasia type 5 True False False +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type True False False +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type True False False +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type True False False +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type True False False +Orphanet:93320 Ulnar hemimelia True False False +Orphanet:93321 Radial hemimelia True False False +Orphanet:93322 Tibial hemimelia True False False +Orphanet:93323 Fibular hemimelia True False False +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome True False False +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome True False False +Orphanet:93328 Autosomal dominant omodysplasia True False False +Orphanet:93329 Autosomal recessive omodysplasia True False False +Orphanet:93333 Pelviscapular dysplasia True False False +Orphanet:93334 Postaxial polydactyly type A True False False +Orphanet:93335 Postaxial polydactyly type B True False False +Orphanet:93336 Polydactyly of a triphalangeal thumb True False False +Orphanet:93337 Polydactyly of an index finger True False False +Orphanet:93338 Polysyndactyly True False False +Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux True False False +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type True False False +Orphanet:93347 Anauxetic dysplasia True False False +Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia True False False +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type True False False +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type True False False +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type True False False +Orphanet:93357 SPONASTRIME dysplasia True False False +Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome True False False +Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type True False False +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 True False False +Orphanet:93382 Brachydactyly type A6 True False False +Orphanet:93383 Brachydactyly type B True False False +Orphanet:93384 Brachydactyly type C True False False +Orphanet:93387 Brachydactyly type E True False False +Orphanet:93388 Brachydactyly type A1 True False False +Orphanet:93394 Brachydactyly type A4 True False False +Orphanet:93396 Brachydactyly type A2 True False False +Orphanet:93397 Brachydactyly type A7 True False False +Orphanet:93398 Genochondromatosis type 2 True False False +Orphanet:93399 Juvenile sialidosis type 2 True False False +Orphanet:93400 Congenital sialidosis type 2 True False False +Orphanet:93402 Syndactyly type 1 True False False +Orphanet:93403 Syndactyly type 2 True False False +Orphanet:93404 Syndactyly type 3 True False False +Orphanet:93405 Syndactyly type 4 True False False +Orphanet:93406 Syndactyly type 5 True False False +Orphanet:93409 Brachydactyly-syndactyly, Zhao type True False False +Orphanet:93419 Rare bone disease True False False +Orphanet:93420 FGFR3-related chondrodysplasia True False False +Orphanet:93421 Type 2 collagen-related bone disorder True False False +Orphanet:93422 Type 11 collagen-related bone disorder True False False +Orphanet:93423 Sulfation-related bone disorder True False False +Orphanet:93424 Perlecan-related bone disorder True False False +Orphanet:93425 Filamin-related bone disorder True False False +Orphanet:93426 Ciliopathies with major skeletal involvement True False False +Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia True False False +Orphanet:93430 Multiple metaphyseal dysplasia True False False +Orphanet:93434 Spondylodysplastic dysplasia True False False +Orphanet:93436 Acromelic dysplasia True False False +Orphanet:93437 Acromesomelic dysplasia True False False +Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia True False False +Orphanet:93439 Campomelic dysplasia and related disorders True False False +Orphanet:93440 Slender bone dysplasia True False False +Orphanet:93441 Primary bone dysplasia with multiple joint dislocations True False False +Orphanet:93442 Chondrodysplasia punctata True False False +Orphanet:93443 Neonatal osteosclerotic dysplasia True False False +Orphanet:93444 Primary bone dysplasia with increased bone density True False False +Orphanet:93446 Primary bone dysplasia with decreased bone density True False False +Orphanet:93447 Primary bone dysplasia with defective bone mineralization True False False +Orphanet:93448 Lysosomal storage disease with skeletal involvement True False False +Orphanet:93449 Primary osteolysis True False False +Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components True False False +Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect True False False +Orphanet:93453 Dysostosis with predominant craniofacial involvement True False False +Orphanet:93454 Dysostosis with predominant vertebral and costal involvement True False False +Orphanet:93455 Patellar dysostosis True False False +Orphanet:93457 Non-syndromic limb reduction defect True False False +Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy True False False +Orphanet:93459 Syndrome with synostosis or other joint formation defect True False False +Orphanet:93460 Overgrowth syndrome True False False +Orphanet:93461 Chromosomal disease with overgrowth True False False +Orphanet:93465 Lethal chondrodysplasia True False False +Orphanet:93473 Hurler syndrome True False False +Orphanet:93474 Scheie syndrome True False False +Orphanet:93476 Hurler-Scheie syndrome True False False +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency True False False +Orphanet:93545 Renal or urinary tract malformation True False False +Orphanet:93552 Pediatric systemic lupus erythematosus True False False +Orphanet:93554 Mixed cryoglobulinemia type II True False False +Orphanet:93555 Mixed cryoglobulinemia type III True False False +Orphanet:93556 Heavy chain deposition disease True False False +Orphanet:93557 Light and heavy chain deposition disease True False False +Orphanet:93558 Light chain deposition disease True False False +Orphanet:93560 AApoAI amyloidosis True False False +Orphanet:93561 ALys amyloidosis True False False +Orphanet:93562 AFib amyloidosis True False False +Orphanet:93568 Juvenile polymyositis True False False +Orphanet:93569 Polymyalgia rheumatica True False False +Orphanet:93571 Dense deposit disease True False False +Orphanet:93573 Thrombotic microangiopathy True False False +Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies True False False +Orphanet:93583 Congenital thrombotic thrombocytopenic purpura True False False +Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura True False False +Orphanet:93587 Genetic cystic renal disease True False False +Orphanet:93589 Late-onset nephronophthisis True False False +Orphanet:93591 Infantile nephronophthisis True False False +Orphanet:93592 Juvenile nephronophthisis True False False +Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease True False False +Orphanet:93598 Primary hyperoxaluria type 1 True False False +Orphanet:93599 Primary hyperoxaluria type 2 True False False +Orphanet:93600 Primary hyperoxaluria type 3 True False False +Orphanet:93601 Xanthinuria type I True False False +Orphanet:93602 Xanthinuria type II True False False +Orphanet:93603 Rare renal tubular disease True False False +Orphanet:93605 Bartter syndrome type 3 True False False +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis True False False +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis True False False +Orphanet:93608 Autosomal dominant distal renal tubular acidosis True False False +Orphanet:93610 Distal renal tubular acidosis with anemia True False False +Orphanet:93612 Cystinuria type A True False False +Orphanet:93613 Cystinuria type B True False False +Orphanet:93614 Hematological disorder with renal involvement True False False +Orphanet:93616 Hemoglobin H disease True False False +Orphanet:93618 Rare cause of hypertension True False False +Orphanet:93619 Rare renal tumor True False False +Orphanet:93622 Dent disease type 1 True False False +Orphanet:93623 Dent disease type 2 True False False +Orphanet:93626 Rare renal disease True False False +Orphanet:93665 Autoinflammatory syndrome True False False +Orphanet:93672 Juvenile dermatomyositis True False False +Orphanet:93685 Unicentric Castleman disease True False False +Orphanet:93890 Rare developmental defect during embryogenesis True False False +Orphanet:939 3-hydroxyisobutyric aciduria True False False +Orphanet:93921 Full schwannomatosis True False False +Orphanet:93924 Lobar holoprosencephaly True False False +Orphanet:93925 Alobar holoprosencephaly True False False +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly True False False +Orphanet:93928 Isolated epispadias True False False +Orphanet:93929 Cloacal exstrophy True False False +Orphanet:93930 Bladder exstrophy True False False +Orphanet:93932 FG syndrome type 1 True False False +Orphanet:93938 Laryngotracheoesophageal cleft type 1 True False False +Orphanet:93939 Laryngotracheoesophageal cleft type 2 True False False +Orphanet:93940 Laryngotracheoesophageal cleft type 3 True False False +Orphanet:93941 Laryngotracheoesophageal cleft type 4 True False False +Orphanet:93945 X-linked intellectual disability, Porteous type True False False +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome True False False +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type True False False +Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type True False False +Orphanet:93952 X-linked intellectual disability, Hedera type True False False +Orphanet:93953 Familial thyroglossal duct cyst True False False +Orphanet:93958 Oromandibular dystonia True False False +Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome True False False +Orphanet:93969 Open spinal dysraphism with a myelomeningocele True False False +Orphanet:93976 Anotia True False False +Orphanet:94 Astrocytoma True False False +Orphanet:94056 Humero-ulnar synostosis True False False +Orphanet:94058 Neovascular glaucoma True False False +Orphanet:94063 12q14 microdeletion syndrome True False False +Orphanet:94064 Deafness-infertility syndrome True False False +Orphanet:94065 15q24 microdeletion syndrome True False False +Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia True False False +Orphanet:94068 Spondyloepiphyseal dysplasia congenita True False False +Orphanet:94075 Severe immune-mediated enteropathy True False False +Orphanet:94080 Non-functioning paraganglioma True False False +Orphanet:94083 Partington syndrome True False False +Orphanet:94086 Blue diaper syndrome True False False +Orphanet:94087 Cytophagic histiocytic panniculitis True False False +Orphanet:94088 Hereditary renal hypouricemia True False False +Orphanet:94089 Pseudohypoparathyroidism type 1B True False False +Orphanet:94090 Pseudohypoparathyroidism type 2 True False False +Orphanet:94091 Mills syndrome True False False +Orphanet:94093 Neuroleptic malignant syndrome True False False +Orphanet:941 D-glyceric aciduria True False False +Orphanet:94122 Cerebellar ataxia, Cayman type True False False +Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 True False False +Orphanet:94125 Recessive mitochondrial ataxia syndrome True False False +Orphanet:94145 Autosomal dominant cerebellar ataxia type I True False False +Orphanet:94147 Spinocerebellar ataxia type 7 True False False +Orphanet:94148 Autosomal dominant cerebellar ataxia type III True False False +Orphanet:94149 Autosomal dominant cerebellar ataxia type IV True False False +Orphanet:94150 Anonychia congenita totalis True False False +Orphanet:943 Malonic aciduria True False False +Orphanet:945 Acalvaria True False False +Orphanet:949 Acrocraniofacial dysostosis True False False +Orphanet:95 Friedreich ataxia True False False +Orphanet:950 Acrodysostosis True False False +Orphanet:95157 Acute hepatic porphyria True False False +Orphanet:95159 Hepatoerythropoietic porphyria True False False +Orphanet:95161 Chronic hepatic porphyria True False False +Orphanet:952 Acrofacial dysostosis, Weyers type True False False +Orphanet:95232 Lissencephaly due to LIS1 mutation True False False +Orphanet:95409 Acute adrenal insufficiency True False False +Orphanet:95427 Secondary short bowel syndrome True False False +Orphanet:95428 COG8-CDG True False False +Orphanet:95429 Angioma serpiginosum True False False +Orphanet:95430 Congenital tracheomalacia True False False +Orphanet:95431 Twin to twin transfusion syndrome True False False +Orphanet:95432 Primary progressive aphasia True False False +Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome True False False +Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome True False False +Orphanet:95443 Mesocardia True False False +Orphanet:95448 Congenital aortic valve atresia True False False +Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum True False False +Orphanet:95457 Tricuspid valve agenesis True False False +Orphanet:95459 Congenital tricuspid stenosis True False False +Orphanet:95461 Straddling or overriding tricuspid valve True False False +Orphanet:95462 Accessory tricuspid valve tissue True False False +Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus True False False +Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis True False False +Orphanet:95465 Cleft mitral valve True False False +Orphanet:95474 Double-orifice mitral valve True False False +Orphanet:95483 Univentricular cardiopathy True False False +Orphanet:95485 Arterial duct anomaly True False False +Orphanet:95486 Premature closure of the arterial duct True False False +Orphanet:95488 Non-acquired pituitary hormone deficiency True False False +Orphanet:95491 Congenital coronary artery aneurysm True False False +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms True False False +Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency True False False +Orphanet:95496 Pituitary stalk interruption syndrome True False False +Orphanet:95498 Congenital anomaly of superior vena cava True False False +Orphanet:95499 Congenital anomaly of the inferior vena cava True False False +Orphanet:955 Hajdu-Cheney syndrome True False False +Orphanet:95500 Congenital anomaly of the coronary sinus True False False +Orphanet:95502 Acquired pituitary hormone deficiency True False False +Orphanet:95503 Pituitary hormone deficiency of tumoral origin True False False +Orphanet:95505 Pituitary hormone deficiency of meningeal origin True False False +Orphanet:95506 Primary hypophysitis True False False +Orphanet:95507 Congenital anomaly of hepatic vein True False False +Orphanet:95510 Atrial appendage anomaly True False False +Orphanet:95512 Adenohypophysitis True False False +Orphanet:95513 Panhypophysitis True False False +Orphanet:95611 Pituitary hormone deficiency of vascular origin True False False +Orphanet:95613 Pituitary apoplexy True False False +Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease True False False +Orphanet:95618 Pituitary hormone deficiency secondary to storage disease True False False +Orphanet:95619 Post-traumatic pituitary deficiency True False False +Orphanet:95626 Acquired central diabetes insipidus True False False +Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency True False False +Orphanet:957 Acropectorovertebral dysplasia True False False +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone True False False +Orphanet:95702 X-linked adrenal hypoplasia congenita True False False +Orphanet:95706 Non-syndromic posterior hypospadias True False False +Orphanet:95707 Idiopathic isolated micropenis True False False +Orphanet:95708 Rare precocious puberty True False False +Orphanet:95709 Acquired premature ovarian failure True False False +Orphanet:95710 Non-acquired premature ovarian failure True False False +Orphanet:95711 Congenital hypothyroidism due to developmental anomaly True False False +Orphanet:95712 Thyroid ectopia True False False +Orphanet:95713 Athyreosis True False False +Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly True False False +Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies True False False +Orphanet:95716 Familial thyroid dyshormonogenesis True False False +Orphanet:95717 Idiopathic congenital hypothyroidism True False False +Orphanet:95718 Congenital thyroid malformation without hypothyroidism True False False +Orphanet:95719 Thyroid hemiagenesis True False False +Orphanet:95720 Thyroid hypoplasia True False False +Orphanet:958 Acro-renal-mandibular syndrome True False False +Orphanet:95854 Levocardia True False False +Orphanet:959 Acro-renal-ocular syndrome True False False +Orphanet:96 Ataxia with vitamin E deficiency True False False +Orphanet:96055 Tetrasomy 21 True False False +Orphanet:96059 Mosaic trisomy 4 True False False +Orphanet:96060 Mosaic trisomy 5 True False False +Orphanet:96061 Mosaic trisomy 8 True False False +Orphanet:96063 Mosaic trisomy 10 True False False +Orphanet:96068 Mosaic trisomy 22 True False False +Orphanet:96069 Distal duplication 1p36 True False False +Orphanet:96070 Distal duplication 2p True False False +Orphanet:96071 Distal duplication 3p True False False +Orphanet:96072 4p16.3 microduplication syndrome True False False +Orphanet:96074 Distal duplication 7p True False False +Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication True False False +Orphanet:96078 16p13.3 microduplication syndrome True False False +Orphanet:96092 8p inverted duplication/deletion syndrome True False False +Orphanet:96094 Distal duplication 2q True False False +Orphanet:96095 3q26 microduplication syndrome True False False +Orphanet:96096 Distal duplication 4q True False False +Orphanet:96097 Distal duplication 5q True False False +Orphanet:96098 Distal duplication 6q True False False +Orphanet:96100 Distal duplication 8q True False False +Orphanet:96101 Distal duplication 9q True False False +Orphanet:96102 Distal duplication 10q True False False +Orphanet:96103 Distal duplication 11q True False False +Orphanet:96105 Distal duplication 13q True False False +Orphanet:96106 Distal duplication 16q True False False +Orphanet:96107 Distal duplication 20q True False False +Orphanet:96109 Distal duplication 22q True False False +Orphanet:96112 Non-distal duplication 9q True False False +Orphanet:96121 7q11.23 microduplication syndrome True False False +Orphanet:96123 Monosomy 22 True False False +Orphanet:96125 Distal deletion 6p True False False +Orphanet:96126 Distal deletion 7p True False False +Orphanet:96129 Distal deletion 19p True False False +Orphanet:96145 Distal deletion 4q True False False +Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion True False False +Orphanet:96148 Distal deletion 10q True False False +Orphanet:96149 Distal deletion 12q True False False +Orphanet:96150 Distal deletion 14q True False False +Orphanet:96160 Non-distal deletion 12q True False False +Orphanet:96167 Recombinant 8 syndrome True False False +Orphanet:96168 Monosomy 13q34 True False False +Orphanet:96169 Koolen-De Vries syndrome True False False +Orphanet:96170 Emanuel syndrome True False False +Orphanet:96171 Ring chromosome 2 syndrome True False False +Orphanet:96172 Ring chromosome 3 syndrome True False False +Orphanet:96173 Ring chromosome 9 syndrome True False False +Orphanet:96175 Ring chromosome 11 syndrome True False False +Orphanet:96176 Ring chromosome 13 syndrome True False False +Orphanet:96177 Ring chromosome 15 syndrome True False False +Orphanet:96178 Ring chromosome 16 syndrome True False False +Orphanet:96179 Maternal uniparental disomy of chromosome 2 True False False +Orphanet:96180 Maternal uniparental disomy of chromosome 4 True False False +Orphanet:96181 Maternal uniparental disomy of chromosome 6 True False False +Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 True False False +Orphanet:96183 Maternal uniparental disomy of chromosome 9 True False False +Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 True False False +Orphanet:96185 Maternal uniparental disomy of chromosome 16 True False False +Orphanet:96186 Maternal uniparental disomy of chromosome 20 True False False +Orphanet:96187 Maternal uniparental disomy of chromosome 21 True False False +Orphanet:96188 Maternal uniparental disomy of chromosome 22 True False False +Orphanet:96190 Paternal uniparental disomy of chromosome 5 True False False +Orphanet:96191 Paternal uniparental disomy of chromosome 6 True False False +Orphanet:96192 Paternal uniparental disomy of chromosome 7 True False False +Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 True False False +Orphanet:96194 Paternal uniparental disomy of chromosome 20 True False False +Orphanet:96195 Paternal uniparental disomy of chromosome 21 True False False +Orphanet:96201 X small rings True False False +Orphanet:96210 Rare genetic deafness True False False +Orphanet:96253 Cushing disease True False False +Orphanet:96256 Somatotropic adenoma True False False +Orphanet:96263 48,XXXY syndrome True False False +Orphanet:96264 49,XXXXY syndrome True False False +Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance True False False +Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance True False False +Orphanet:96269 Isolated partial vaginal agenesis True False False +Orphanet:963 Acromegaly True False False +Orphanet:96321 Polyploidy True False False +Orphanet:96325 Isochromosome Y True False False +Orphanet:96333 Rare otorhinolaryngological malformation True False False +Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 True False False +Orphanet:96344 Rare gynecologic or obstetric disease True False False +Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type True False False +Orphanet:969 Acromicric dysplasia True False False +Orphanet:97 Familial paroxysmal ataxia True False False +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 True False False +Orphanet:971 Acrorenal syndrome True False False +Orphanet:97120 Distal arthrogryposis True False False +Orphanet:972 Hereditary continuous muscle fiber activity True False False +Orphanet:97214 Eisenmenger syndrome True False False +Orphanet:97229 Riboflavin transporter deficiency True False False +Orphanet:97230 Solar urticaria True False False +Orphanet:97232 Fingerprint body myopathy True False False +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency True False False +Orphanet:97238 Rippling muscle disease True False False +Orphanet:97239 Reducing body myopathy True False False +Orphanet:97240 Zebra body myopathy True False False +Orphanet:97242 Congenital muscular dystrophy True False False +Orphanet:97244 Rigid spine syndrome True False False +Orphanet:97245 Congenital myopathy True False False +Orphanet:97249 Pontocerebellar hypoplasia type 3 True False False +Orphanet:97252 Mega-cisterna magna True False False +Orphanet:97253 Neuroendocrine tumor of pancreas True False False +Orphanet:97261 GRFoma True False False +Orphanet:97275 Encephalitis True False False +Orphanet:97278 PPoma True False False +Orphanet:97279 Insulinoma True False False +Orphanet:97280 Glucagonoma True False False +Orphanet:97282 VIPoma True False False +Orphanet:97283 Somatostatinoma True False False +Orphanet:97285 Thyroid lymphoma True False False +Orphanet:97286 Carney-Stratakis syndrome True False False +Orphanet:97287 Bronchial neuroendocrine tumor True False False +Orphanet:97289 Thymic neuroendocrine tumor True False False +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia True False False +Orphanet:97293 Rare benign ovarian tumor True False False +Orphanet:97297 Bohring-Opitz syndrome True False False +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral True False False +Orphanet:97330 Thoracic outlet syndrome True False False +Orphanet:97332 Kienbock disease True False False +Orphanet:97335 Osgood-Schlatter disease True False False +Orphanet:97336 Panner disease True False False +Orphanet:97337 Sinding-Larsen-Johansson disease True False False +Orphanet:97338 Melanoma of soft tissue True False False +Orphanet:97339 Dural sinus malformation True False False +Orphanet:97340 Hunter-McAlpine syndrome True False False +Orphanet:97341 Persistent placoid maculopathy True False False +Orphanet:97345 ABri amyloidosis True False False +Orphanet:97346 ADan amyloidosis True False False +Orphanet:97349 Postencephalitic parkinsonism True False False +Orphanet:97352 Pellagra True False False +Orphanet:97353 Dementia pugilistica True False False +Orphanet:97355 Caribbean parkinsonism True False False +Orphanet:97360 Robinow syndrome True False False +Orphanet:97361 Renal hypoplasia, unilateral True False False +Orphanet:97362 Renal hypoplasia, bilateral True False False +Orphanet:97363 Unilateral multicystic dysplastic kidney True False False +Orphanet:97364 Bilateral multicystic dysplastic kidney True False False +Orphanet:97366 Multiloculated renal cyst True False False +Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion True False False +Orphanet:97368 Drug-related renal tubular dysgenesis True False False +Orphanet:97369 Renal tubular dysgenesis of genetic origin True False False +Orphanet:974 Adams-Oliver syndrome True False False +Orphanet:97548 Right sided atrial isomerism True False False +Orphanet:97560 Primary membranous glomerulonephritis True False False +Orphanet:97563 Pauci-immune glomerulonephritis with ANCA True False False +Orphanet:97564 Pauci-immune glomerulonephritis without ANCA True False False +Orphanet:97566 Non-amyloid fibrillary glomerulopathy True False False +Orphanet:97567 Immunotactoid glomerulopathy True False False +Orphanet:97593 Pseudohypoparathyroidism True False False +Orphanet:97598 Congenital renal artery stenosis True False False +Orphanet:976 Adenine phosphoribosyltransferase deficiency True False False +Orphanet:97678 Maternal uniparental disomy of chromosome 13 True False False +Orphanet:97685 17q11 microdeletion syndrome True False False +Orphanet:977 Adrenomyodystrophy True False False +Orphanet:978 ADULT syndrome True False False +Orphanet:97929 Rare cardiac disease True False False +Orphanet:97935 Rare gastroenterologic disease True False False +Orphanet:97944 Gastroduodenal malformation True False False +Orphanet:97955 Rare respiratory disease True False False +Orphanet:97957 Respiratory or thoracic malformation True False False +Orphanet:97962 Rare surgical thoracic disease True False False +Orphanet:97965 Rare surgical cardiac disease True False False +Orphanet:97966 Rare ophthalmic disorder True False False +Orphanet:97978 Rare endocrine disease True False False +Orphanet:97992 Rare hematologic disease True False False +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay True False False +Orphanet:980 Absence of the pulmonary artery True False False +Orphanet:98004 Rare immune disease True False False +Orphanet:98006 Rare neurologic disease True False False +Orphanet:98010 Infectious disease of the nervous system True False False +Orphanet:98022 Rare headache True False False +Orphanet:98023 Rare systemic or rheumatologic disease True False False +Orphanet:98026 Rare odontologic disease True False False +Orphanet:98027 Rare disease with odontological manifestation True False False +Orphanet:98028 Rare circulatory system disease True False False +Orphanet:98033 Rare neurologic disease with psychiatric involvement True False False +Orphanet:98036 Rare otorhinolaryngologic disease True False False +Orphanet:98038 Cranial malformation True False False +Orphanet:98039 Digestive tract malformation True False False +Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen True False False +Orphanet:98043 Diaphragmatic or abdominal wall malformation True False False +Orphanet:98044 Central nervous system malformation True False False +Orphanet:98045 Respiratory or mediastinal malformation True False False +Orphanet:98047 Rare infertility True False False +Orphanet:98048 Rare male infertility True False False +Orphanet:98049 Rare female infertility True False False +Orphanet:98050 Rare allergic disease True False False +Orphanet:98052 Rare allergic respiratory disease True False False +Orphanet:98053 Rare genetic disease True False False +Orphanet:98054 Rare genetic cardiac disease True False False +Orphanet:98056 Rare genetic renal disease True False False +Orphanet:98057 Rare tumor True False False +Orphanet:98058 Rare urinary tract tumor True False False +Orphanet:98059 Rare digestive tumor True False False +Orphanet:98060 Rare respiratory tumor True False False +Orphanet:98061 Rare otorhinolaryngologic tumor True False False +Orphanet:98062 Rare nervous system tumor True False False +Orphanet:98063 Rare gynecological tumor True False False +Orphanet:98074 Gonadal dysgenesis of gynecological interest True False False +Orphanet:98078 46,XX difference of sex development induced by androgens excess True False False +Orphanet:98085 46,XY difference of sex development True False False +Orphanet:98087 Syndrome with 46,XY difference of sex development True False False +Orphanet:98095 Autosomal recessive congenital cerebellar ataxia True False False +Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia True False False +Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect True False False +Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia True False False +Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia True False False +Orphanet:981 Internal carotid absence True False False +Orphanet:98127 Autosomal anomaly True False False +Orphanet:98130 Autosomal trisomy True False False +Orphanet:98131 Total autosomal trisomy True False False +Orphanet:98132 Partial autosomal duplication/triplication True False False +Orphanet:98141 Total autosomal monosomy True False False +Orphanet:98142 Partial autosomal deletion True False False +Orphanet:98152 Autosomal uniparental disomy True False False +Orphanet:98153 Maternal uniparental disomy True False False +Orphanet:98154 Paternal uniparental disomy True False False +Orphanet:98155 Sex-chromosome anomaly True False False +Orphanet:98156 Sex-chromosome number anomaly True False False +Orphanet:98157 Sex-chromosome structural anomaly True False False +Orphanet:98158 Chromosome Y structural anomaly True False False +Orphanet:98159 Chromosome X structural anomaly True False False +Orphanet:98196 Malformation syndrome with hamartosis True False False +Orphanet:982 Pulmonary valve agenesis True False False +Orphanet:98203 Combined dystonia True False False +Orphanet:98249 Ehlers-Danlos syndrome True False False +Orphanet:98252 Infectious encephalitis True False False +Orphanet:98255 Chronic encephalitis True False False +Orphanet:98257 Neonatal epilepsy syndrome True False False +Orphanet:98258 Infantile epilepsy syndrome True False False +Orphanet:98259 Childhood-onset epilepsy syndrome True False False +Orphanet:98260 Adolescent-onset epilepsy syndrome True False False +Orphanet:98261 Progressive myoclonic epilepsy True False False +Orphanet:98267 Genetic non-syndromic obesity True False False +Orphanet:98292 Mastocytosis True False False +Orphanet:983 Testicular regression syndrome True False False +Orphanet:98301 Laminopathy True False False +Orphanet:98305 Genetic lipodystrophy True False False +Orphanet:98306 Familial partial lipodystrophy True False False +Orphanet:98307 Acquired lipodystrophy True False False +Orphanet:98313 Male infertility due to gonadal dysgenesis True False False +Orphanet:98343 Male infertility due to obstructive azoospermia True False False +Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma True False False +Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature True False False +Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature True False False +Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma True False False +Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature True False False +Orphanet:98360 Constitutional anemia due to iron metabolism disorder True False False +Orphanet:98362 Constitutional sideroblastic anemia True False False +Orphanet:98363 Rare hemolytic anemia True False False +Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly True False False +Orphanet:98365 Hereditary stomatocytosis True False False +Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis True False False +Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder True False False +Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies True False False +Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes True False False +Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder True False False +Orphanet:98375 Autoimmune hemolytic anemia True False False +Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder True False False +Orphanet:984 Pulmonary agenesis True False False +Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder True False False +Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia True False False +Orphanet:98427 Polycythemia True False False +Orphanet:98428 Secondary polycythemia True False False +Orphanet:98429 Rare coagulation disorder True False False +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors True False False +Orphanet:98455 Alpha granule disease True False False +Orphanet:98456 Dense granule disease True False False +Orphanet:98472 Skeletal muscle disease True False False +Orphanet:98473 Muscular dystrophy True False False +Orphanet:98482 Idiopathic inflammatory myopathy True False False +Orphanet:98486 Metabolic myopathy True False False +Orphanet:98491 Neuromuscular junction disease True False False +Orphanet:98494 Acquired neuromuscular junction disease True False False +Orphanet:98496 Rare peripheral neuropathy True False False +Orphanet:98497 Genetic peripheral neuropathy True False False +Orphanet:98503 Motor neuron disease True False False +Orphanet:98505 Genetic motor neuron disease True False False +Orphanet:98506 Acquired motor neuron disease True False False +Orphanet:98514 Malformation of the cerebellar vermis True False False +Orphanet:98516 Malformation of the cerebellar hemispheres True False False +Orphanet:98518 Cranial nerve and nuclear aplasia True False False +Orphanet:98519 Posterior fossa malformation True False False +Orphanet:98523 Non-syndromic pontocerebellar hypoplasia True False False +Orphanet:98534 Neurodegenerative disease with dementia True False False +Orphanet:98535 Frontotemporal degeneration with dementia True False False +Orphanet:98538 Ataxia with dementia True False False +Orphanet:98539 Early-onset ataxia with dementia True False False +Orphanet:98540 Late-onset ataxia with dementia True False False +Orphanet:98542 Infectious disease with dementia True False False +Orphanet:98543 Metabolic disease with dementia True False False +Orphanet:98544 Cerebral lipidosis with dementia True False False +Orphanet:98549 Rare cerebrovascular dementia True False False +Orphanet:98553 Developmental defect of the eye True False False +Orphanet:98557 Syndromic aniridia True False False +Orphanet:98560 Rare palpebral disorder True False False +Orphanet:98561 Congenital malformation of the eyelid True False False +Orphanet:98562 Cryptophthalmia True False False +Orphanet:98563 Microblepharon-ablephara syndrome True False False +Orphanet:98564 Eyelid border anomaly True False False +Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum True False False +Orphanet:98566 Syndromic eyelid coloboma True False False +Orphanet:98567 Rare eyelid malposition disorder True False False +Orphanet:98570 Congenital ectropion True False False +Orphanet:98571 Secondary ectropion True False False +Orphanet:98574 Syndromic epicanthus True False False +Orphanet:98575 Syndromic telecanthus True False False +Orphanet:98576 Syndromic outer canthal malposition True False False +Orphanet:98578 Rare disorder with ptosis True False False +Orphanet:98594 Rare eyebrow/eyelash disorder True False False +Orphanet:98602 Rare disorder of the lacrimal apparatus True False False +Orphanet:98604 Congenital alacrima True False False +Orphanet:98605 Lacrimal drainage system anomaly True False False +Orphanet:98606 Syndromic orbital border hypoplasia True False False +Orphanet:98609 EEC syndrome and related disorders True False False +Orphanet:98610 Rare disorder with conjunctival involvement as a major feature True False False +Orphanet:98618 Rare refraction anomaly True False False +Orphanet:98619 Rare isolated myopia True False False +Orphanet:98621 Rare hyperopia and astigmatism True False False +Orphanet:98622 Syndromic hyperopia True False False +Orphanet:98623 Syndromic keratoconus True False False +Orphanet:98625 Superficial corneal dystrophy True False False +Orphanet:98626 Stromal corneal dystrophy True False False +Orphanet:98627 Posterior corneal dystrophy True False False +Orphanet:98628 Syndromic corneal dystrophy True False False +Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature True False False +Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations True False False +Orphanet:98635 Corneodysgenesis True False False +Orphanet:98638 Rare disease with glaucoma as a major feature True False False +Orphanet:98639 Rare lens disease True False False +Orphanet:98640 Rare disorder with lens opacification True False False +Orphanet:98641 Syndromic cataract True False False +Orphanet:98642 Chromosomal anomaly with cataract True False False +Orphanet:98644 Metabolic disease with cataract True False False +Orphanet:98646 Renal disease with cataract True False False +Orphanet:98648 Musculoskeletal disease with cataract True False False +Orphanet:98649 Dentocutaneous disease with cataract True False False +Orphanet:98650 Craniofacial anomaly with cataract True False False +Orphanet:98652 Lens size anomaly True False False +Orphanet:98653 Lens position anomaly True False False +Orphanet:98655 Lens shape anomaly True False False +Orphanet:98658 Color-vision disease True False False +Orphanet:98661 Syndromic rod-cone dystrophy True False False +Orphanet:98668 Vitreoretinopathy True False False +Orphanet:98671 Hereditary optic neuropathy True False False +Orphanet:98672 Autosomal dominant optic atrophy True False False +Orphanet:98673 Autosomal dominant optic atrophy, classic form True False False +Orphanet:98676 Autosomal recessive isolated optic atrophy True False False +Orphanet:98681 Rare disorder with strabismus True False False +Orphanet:98683 Syndromic disorder with strabismus True False False +Orphanet:98684 Craniostenosis with strabismus True False False +Orphanet:98685 Rare oculomotor nerve disorder True False False +Orphanet:98686 Congenital trochlear nerve palsy True False False +Orphanet:98687 Supranuclear eye movement disorder True False False +Orphanet:98688 Oculomotor apraxia True False False +Orphanet:98706 Oculocutaneous or ocular albinism True False False +Orphanet:98715 Uveitis True False False +Orphanet:98716 Heart position anomaly True False False +Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly True False False +Orphanet:98718 Aortic malformation True False False +Orphanet:98719 Pulmonary artery or pulmonary branch anomaly True False False +Orphanet:98720 Atrioventricular valve anomaly True False False +Orphanet:98721 Congenital tricuspid malformation True False False +Orphanet:98722 Atrioventricular septal defect True False False +Orphanet:98723 Hypoplastic right heart syndrome True False False +Orphanet:98724 Congenital anomaly of the great arteries True False False +Orphanet:98725 Ascending aorta anomaly True False False +Orphanet:98727 Rare atrial defect and interatrial communication True False False +Orphanet:98729 Congenital pulmonary veins anomaly True False False +Orphanet:98731 Congenital arteriovenous fistula True False False +Orphanet:98733 Noonan syndrome and Noonan-related syndrome True False False +Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect True False False +Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect True False False +Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect True False False +Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect True False False +Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect True False False +Orphanet:98743 Genetic neurological channelopathy of the central nervous system True False False +Orphanet:98750 Autoimmune neurological channelopathy True False False +Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 True False False +Orphanet:98755 Spinocerebellar ataxia type 1 True False False +Orphanet:98756 Spinocerebellar ataxia type 2 True False False +Orphanet:98757 Spinocerebellar ataxia type 3 True False False +Orphanet:98758 Spinocerebellar ataxia type 6 True False False +Orphanet:98759 Spinocerebellar ataxia type 17 True False False +Orphanet:98760 Spinocerebellar ataxia type 8 True False False +Orphanet:98761 Spinocerebellar ataxia type 10 True False False +Orphanet:98762 Spinocerebellar ataxia type 12 True False False +Orphanet:98763 Spinocerebellar ataxia type 14 True False False +Orphanet:98764 Spinocerebellar ataxia type 27 True False False +Orphanet:98765 Spinocerebellar ataxia type 4 True False False +Orphanet:98766 Spinocerebellar ataxia type 5 True False False +Orphanet:98767 Spinocerebellar ataxia type 11 True False False +Orphanet:98768 Spinocerebellar ataxia type 13 True False False +Orphanet:98769 Spinocerebellar ataxia type 15/16 True False False +Orphanet:98771 Spinocerebellar ataxia type 18 True False False +Orphanet:98772 Spinocerebellar ataxia type 19/22 True False False +Orphanet:98773 Spinocerebellar ataxia type 21 True False False +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy True False False +Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 True False False +Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion True False False +Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion True False False +Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 True False False +Orphanet:98797 Isochromosomy Yp True False False +Orphanet:98798 Isochromosomy Yq True False False +Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome True False False +Orphanet:98805 Primary dystonia, DYT4 type True False False +Orphanet:98806 Primary dystonia, DYT6 type True False False +Orphanet:98807 Primary dystonia, DYT13 type True False False +Orphanet:98808 Autosomal dominant dopa-responsive dystonia True False False +Orphanet:98809 Paroxysmal kinesigenic dyskinesia True False False +Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia True False False +Orphanet:98811 Paroxysmal exertion-induced dyskinesia True False False +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency True False False +Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type True False False +Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type True False False +Orphanet:98818 Landau-Kleffner syndrome True False False +Orphanet:98819 Familial temporal lobe epilepsy True False False +Orphanet:98820 Familial focal epilepsy with variable foci True False False +Orphanet:98823 Chronic myelomonocytic leukemia True False False +Orphanet:98824 Atypical chronic myeloid leukemia True False False +Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease True False False +Orphanet:98826 Refractory anemia True False False +Orphanet:98827 Unclassified myelodysplastic syndrome True False False +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) True False False +Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities True False False +Orphanet:98832 Acute myeloid leukemia with minimal differentiation True False False +Orphanet:98833 Acute myeloblastic leukemia without maturation True False False +Orphanet:98834 Acute myeloblastic leukemia with maturation True False False +Orphanet:98835 Acute undifferentiated leukemia True False False +Orphanet:98838 Primary mediastinal large B-cell lymphoma True False False +Orphanet:98839 Intravascular large B-cell lymphoma True False False +Orphanet:98841 Anaplastic large cell lymphoma True False False +Orphanet:98842 Lymphomatoid papulosis True False False +Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type True False False +Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type True False False +Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type True False False +Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type True False False +Orphanet:98848 Indolent systemic mastocytosis True False False +Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm True False False +Orphanet:98850 Aggressive systemic mastocytosis True False False +Orphanet:98851 Mast cell leukemia True False False +Orphanet:98852 Desquamative interstitial pneumonia True False False +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy True False False +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy True False False +Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 True False False +Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy True False False +Orphanet:98868 Southeast Asian ovalocytosis True False False +Orphanet:98869 Congenital dyserythropoietic anemia type I True False False +Orphanet:98870 Congenital dyserythropoietic anemia type III True False False +Orphanet:98871 Transient erythroblastopenia of childhood True False False +Orphanet:98872 Primary acquired pure red cell aplasia True False False +Orphanet:98873 Congenital dyserythropoietic anemia type II True False False +Orphanet:98878 Hemophilia A True False False +Orphanet:98879 Hemophilia B True False False +Orphanet:98880 Familial afibrinogenemia True False False +Orphanet:98881 Familial dysfibrinogenemia True False False +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency True False False +Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency True False False +Orphanet:98888 X-linked complex spastic paraplegia True False False +Orphanet:98889 Bilateral perisylvian polymicrogyria True False False +Orphanet:98890 Early-onset X-linked optic atrophy True False False +Orphanet:98892 Periventricular nodular heterotopia True False False +Orphanet:98893 Congenital muscular dystrophy type 1B True False False +Orphanet:98895 Becker muscular dystrophy True False False +Orphanet:98896 Duchenne muscular dystrophy True False False +Orphanet:98897 Oculopharyngodistal myopathy True False False +Orphanet:989 Hypoglossia-hypodactyly syndrome True False False +Orphanet:98902 Amish nemaline myopathy True False False +Orphanet:98904 Congenital myopathy with excess of thin filaments True False False +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia True False False +Orphanet:98907 Neutral lipid storage disease with ichthyosis True False False +Orphanet:98908 Neutral lipid storage myopathy True False False +Orphanet:98909 Desminopathy True False False +Orphanet:98910 Alpha-crystallinopathy True False False +Orphanet:98911 Distal myotilinopathy True False False +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type True False False +Orphanet:98913 Postsynaptic congenital myasthenic syndromes True False False +Orphanet:98914 Presynaptic congenital myasthenic syndromes True False False +Orphanet:98915 Synaptic congenital myasthenic syndromes True False False +Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy True False False +Orphanet:98917 Acute motor and sensory axonal neuropathy True False False +Orphanet:98918 Acute motor axonal neuropathy True False False +Orphanet:98919 Miller Fisher syndrome True False False +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 True False False +Orphanet:98922 Blake pouch cyst True False False +Orphanet:98933 Multiple system atrophy, parkinsonian type True False False +Orphanet:98934 Huntington disease-like 2 True False False +Orphanet:98938 Colobomatous microphthalmia True False False +Orphanet:98942 Coloboma of choroid and retina True False False +Orphanet:98943 Coloboma of eye lens True False False +Orphanet:98944 Coloboma of iris True False False +Orphanet:98945 Coloboma of macula True False False +Orphanet:98946 Coloboma of eyelid True False False +Orphanet:98947 Coloboma of optic disc True False False +Orphanet:98948 Congenital symblepharon True False False +Orphanet:98949 Complete cryptophthalmia True False False +Orphanet:98950 Partial cryptophthalmia True False False +Orphanet:98951 Inverse Marcus-Gunn phenomenon True False False +Orphanet:98954 Meesmann corneal dystrophy True False False +Orphanet:98955 Lisch epithelial corneal dystrophy True False False +Orphanet:98956 Epithelial basement membrane dystrophy True False False +Orphanet:98957 Gelatinous drop-like corneal dystrophy True False False +Orphanet:98958 Climatic droplet keratopathy True False False +Orphanet:98959 Subepithelial mucinous corneal dystrophy True False False +Orphanet:98960 Thiel-Behnke corneal dystrophy True False False +Orphanet:98961 Reis-Bücklers corneal dystrophy True False False +Orphanet:98962 Granular corneal dystrophy type I True False False +Orphanet:98963 Granular corneal dystrophy type II True False False +Orphanet:98964 Lattice corneal dystrophy type I True False False +Orphanet:98967 Schnyder corneal dystrophy True False False +Orphanet:98969 Macular corneal dystrophy True False False +Orphanet:98970 Fleck corneal dystrophy True False False +Orphanet:98971 Posterior amorphous corneal dystrophy True False False +Orphanet:98972 Central cloudy dystrophy of François True False False +Orphanet:98973 Posterior polymorphous corneal dystrophy True False False +Orphanet:98974 Fuchs endothelial corneal dystrophy True False False +Orphanet:98975 Congenital hereditary endothelial dystrophy type I True False False +Orphanet:98976 Congenital glaucoma True False False +Orphanet:98977 Juvenile glaucoma True False False +Orphanet:98978 Axenfeld anomaly True False False +Orphanet:98979 Chandler syndrome True False False +Orphanet:98980 Cogan-Reese syndrome True False False +Orphanet:98981 Essential iris atrophy True False False +Orphanet:98984 Pulverulent cataract True False False +Orphanet:98985 Early-onset sutural cataract True False False +Orphanet:98988 Early-onset anterior polar cataract True False False +Orphanet:98989 Cerulean cataract True False False +Orphanet:98990 Coralliform cataract True False False +Orphanet:98991 Early-onset nuclear cataract True False False +Orphanet:98992 Early-onset partial cataract True False False +Orphanet:98993 Early-onset posterior polar cataract True False False +Orphanet:98994 Total early-onset cataract True False False +Orphanet:98995 Early-onset zonular cataract True False False +Orphanet:99 Autosomal dominant cerebellar ataxia True False False +Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome True False False +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy True False False +Orphanet:99001 Butterfly-shaped pigment dystrophy True False False +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium True False False +Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus True False False +Orphanet:99004 Fundus pulverulentus True False False +Orphanet:99013 Spastic paraplegia type 7 True False False +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 True False False +Orphanet:99015 Spastic paraplegia type 2 True False False +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy True False False +Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation True False False +Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis True False False +Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect True False False +Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect True False False +Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome True False False +Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus True False False +Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta True False False +Orphanet:99051 Discrete fixed membranous subaortic stenosis True False False +Orphanet:99052 Discrete fibromuscular subaortic stenosis True False False +Orphanet:99053 Tunnel subaortic stenosis True False False +Orphanet:99054 Valvular pulmonary stenosis True False False +Orphanet:99055 Congenital anomaly of the tricuspid valve chordae True False False +Orphanet:99056 Parachute tricuspid valve True False False +Orphanet:99057 Congenital mitral stenosis True False False +Orphanet:99058 Hypoplasia of the mitral valve annulus True False False +Orphanet:99059 Congenital supravalvular mitral ring True False False +Orphanet:99060 Congenital unguarded mitral orifice True False False +Orphanet:99061 Accessory mitral valve tissue True False False +Orphanet:99062 Mitral valve agenesis True False False +Orphanet:99063 Shone complex True False False +Orphanet:99064 Straddling and/or overriding mitral valve True False False +Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia True False False +Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot True False False +Orphanet:99070 Aorto-right ventricular tunnel True False False +Orphanet:99071 Aorto-left ventricular tunnel True False False +Orphanet:99072 Congenital patent ductus arteriosus aneurysm True False False +Orphanet:99075 Encircling double aortic arch True False False +Orphanet:99076 Persistent fifth aortic arch True False False +Orphanet:99077 Kommerell diverticulum True False False +Orphanet:99078 Neuhauser anomaly True False False +Orphanet:99079 Cervical aortic arch True False False +Orphanet:99081 Right aortic arch True False False +Orphanet:99082 Dysphagia lusoria True False False +Orphanet:99083 Pulmonary artery hypoplasia True False False +Orphanet:99084 Peripheral pulmonary stenosis True False False +Orphanet:99087 Coronary ostial stenosis or atresia True False False +Orphanet:99089 Abnormal number of coronary ostia True False False +Orphanet:99090 Malposition of a coronary ostium True False False +Orphanet:99092 Interventricular septum aneurysm True False False +Orphanet:99094 Laubry-Pezzi syndrome True False False +Orphanet:99095 Congenital Gerbode defect True False False +Orphanet:99098 Cor triatriatum dexter True False False +Orphanet:99099 Cor triatriatum sinister True False False +Orphanet:991 PAGOD syndrome True False False +Orphanet:99100 Juxtaposition of the atrial appendages True False False +Orphanet:99101 Ectasia of the right atrial appendage True False False +Orphanet:99102 Ectasia of the left atrial appendage True False False +Orphanet:99103 Atrial septal defect, ostium secundum type True False False +Orphanet:99104 Atrial septal defect, coronary sinus type True False False +Orphanet:99105 Atrial septal defect, sinus venosus type True False False +Orphanet:99106 Atrial septal defect, ostium primum type True False False +Orphanet:99107 Atrial septal aneurysm True False False +Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium True False False +Orphanet:99110 Right superior vena cava connecting to left-sided atrium True False False +Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium True False False +Orphanet:99112 Absence of innominate vein True False False +Orphanet:99113 Subaortic course of innominate vein True False False +Orphanet:99114 Agenesis of the superior vena cava True False False +Orphanet:99117 Coronary sinus stenosis True False False +Orphanet:99118 Coronary sinus atresia True False False +Orphanet:99119 Right inferior vena cava connecting to left-sided atrium True False False +Orphanet:99120 Persistent eustachian valve True False False +Orphanet:99121 Azygos continuation of the inferior vena cava True False False +Orphanet:99122 Congenital stenosis of the inferior vena cava True False False +Orphanet:99123 Inferior vena cava interruption without azygos continuation True False False +Orphanet:99124 Congenital partial pulmonary venous return anomaly True False False +Orphanet:99125 Congenital total pulmonary venous return anomaly True False False +Orphanet:99126 Congenital pulmonary vein atresia True False False +Orphanet:99129 Congenital complete agenesis of pericardium True False False +Orphanet:99130 Congenital partial agenesis of pericardium True False False +Orphanet:99131 Pleuro-pericardial cyst True False False +Orphanet:99135 6-phosphogluconate dehydrogenase deficiency True False False +Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction True False False +Orphanet:99139 Unstable hemoglobin disease True False False +Orphanet:99141 Lymphedema-posterior choanal atresia syndrome True False False +Orphanet:99147 Acquired von Willebrand syndrome True False False +Orphanet:99169 Epiblepharon True False False +Orphanet:99170 Tarsal kink syndrome True False False +Orphanet:99171 Isolated congenital ectropion True False False +Orphanet:99172 Euryblepharon True False False +Orphanet:99176 Congenital eyelid retraction True False False +Orphanet:99177 Isolated distichiasis True False False +Orphanet:99179 Kandori fleck retina True False False +Orphanet:99226 Monosomy X True False False +Orphanet:99228 Mosaic monosomy X True False False +Orphanet:99324 Paternal uniparental disomy of chromosome 13 True False False +Orphanet:99329 48,XYYY syndrome True False False +Orphanet:99330 49,XYYYY syndrome True False False +Orphanet:99361 Familial medullary thyroid carcinoma True False False +Orphanet:994 Fetal akinesia deformation sequence True False False +Orphanet:99408 Pituitary adenoma True False False +Orphanet:99413 Turner syndrome due to structural X chromosome anomalies True False False +Orphanet:99429 Complete androgen insensitivity syndrome True False False +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type True False False +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria True False False +Orphanet:99647 Cheirospondyloenchondromatosis True False False +Orphanet:99657 Primary dystonia, DYT2 type True False False +Orphanet:99672 Fried's tooth and nail syndrome True False False +Orphanet:99688 Dermotrichic syndrome True False False +Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis True False False +Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome True False False +Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation True False False +Orphanet:99718 Leber plus disease True False False +Orphanet:99725 Pituitary gigantism True False False +Orphanet:99731 Isolated sulfite oxidase deficiency True False False +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency True False False +Orphanet:99734 Myotonia fluctuans True False False +Orphanet:99735 Myotonia permanens True False False +Orphanet:99736 Acetazolamide-responsive myotonia True False False +Orphanet:99741 King-Denborough syndrome True False False +Orphanet:99742 Amish lethal microcephaly True False False +Orphanet:99745 Typhoid True False False +Orphanet:99748 Pontiac fever True False False +Orphanet:99749 Kostmann syndrome True False False +Orphanet:99750 Atypical progressive supranuclear palsy syndrome True False False +Orphanet:99756 Alveolar rhabdomyosarcoma True False False +Orphanet:99757 Embryonal rhabdomyosarcoma True False False +Orphanet:99771 Bifid uvula True False False +Orphanet:99772 Cleft velum True False False +Orphanet:99776 Mosaic trisomy 9 True False False +Orphanet:99789 Dentin dysplasia type I True False False +Orphanet:99791 Dentin dysplasia type II True False False +Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome True False False +Orphanet:99796 Subcortical band heterotopia True False False +Orphanet:99797 Anodontia True False False +Orphanet:99798 Oligodontia True False False +Orphanet:998 Albinism-deafness syndrome True False False +Orphanet:99802 Hemimegalencephaly True False False +Orphanet:99803 Haddad syndrome True False False +Orphanet:99806 Oculootodental syndrome True False False +Orphanet:99807 PEHO-like syndrome True False False +Orphanet:99810 Familial porencephaly True False False +Orphanet:99811 Neuronal intestinal pseudoobstruction True False False +Orphanet:99812 LIG4 syndrome True False False +Orphanet:99818 Turcot syndrome with polyposis True False False +Orphanet:99819 Familial gestational hyperthyroidism True False False +Orphanet:99824 Lassa fever True False False +Orphanet:99825 Nipah virus disease True False False +Orphanet:99826 Marburg hemorrhagic fever True False False +Orphanet:99827 Crimean-Congo hemorrhagic fever True False False +Orphanet:99828 Dengue fever True False False +Orphanet:99829 Yellow fever True False False +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome True False False +Orphanet:99842 Leukocyte adhesion deficiency type I True False False +Orphanet:99843 Leukocyte adhesion deficiency type II True False False +Orphanet:99844 Leukocyte adhesion deficiency type III True False False +Orphanet:99845 Genetic recurrent myoglobinuria True False False +Orphanet:99846 Autosomal dominant myoglobinuria True False False +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency True False False +Orphanet:99852 Ravine syndrome True False False +Orphanet:99853 Ovarioleukodystrophy True False False +Orphanet:99854 Cree leukoencephalopathy True False False +Orphanet:99856 Primary syringomyelia True False False +Orphanet:99857 Secondary syringomyelia True False False +Orphanet:99858 Idiopathic syringomyelia True False False +Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia True False False +Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia True False False +Orphanet:99865 Spermatocytic seminoma True False False +Orphanet:99867 Thymoma True False False +Orphanet:99868 Thymic carcinoma True False False +Orphanet:99869 Thymic neuroendocrine carcinoma True False False +Orphanet:99879 Familial isolated hyperparathyroidism True False False +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome True False False +Orphanet:99885 Isolated permanent neonatal diabetes mellitus True False False +Orphanet:99886 Transient neonatal diabetes mellitus True False False +Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome True False False +Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion True False False +Orphanet:99892 ACTH-dependent Cushing syndrome True False False +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency True False False +Orphanet:999 Ermine phenotype True False False +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency True False False +Orphanet:99903 Spirillary rat-bite fever True False False +Orphanet:99905 Streptobacillary rat-bite fever True False False +Orphanet:99906 Farmer's lung disease True False False +Orphanet:99907 House allergic alveolitis True False False +Orphanet:99908 Pigeon-breeder lung disease True False False +Orphanet:99912 Ovarian dysgerminoma True False False +Orphanet:99914 Gynandroblastoma True False False +Orphanet:99915 Malignant granulosa cell tumor of the ovary True False False +Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary True False False +Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified True False False +Orphanet:99918 Streptococcal toxic-shock syndrome True False False +Orphanet:99919 Staphylococcal toxic-shock syndrome True False False +Orphanet:99920 Acute graft versus host disease True False False +Orphanet:99921 Chronic graft versus host disease True False False +Orphanet:99922 Ocular cicatricial pemphigoid True False False +Orphanet:99925 Invasive mole True False False +Orphanet:99926 Gestational choriocarcinoma True False False +Orphanet:99927 Hydatidiform mole True False False +Orphanet:99928 Placental site trophoblastic tumor True False False +Orphanet:99930 Secondary pulmonary hemosiderosis True False False +Orphanet:99931 Idiopathic pulmonary hemosiderosis True False False +Orphanet:99932 Heiner syndrome True False False +Orphanet:99933 Pleuropulmonary blastoma type 1 True False False +Orphanet:99934 Pleuropulmonary blastoma type 2 True False False +Orphanet:99935 Pleuropulmonary blastoma type 3 True False False +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B True False False +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C True False False +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D True False False +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E True False False +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F True False False +Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G True False False +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I True False False +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J True False False +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K True False False +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L True False False +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 True False False +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 True False False +Orphanet:99948 Charcot-Marie-Tooth disease type 4A True False False +Orphanet:99949 Charcot-Marie-Tooth disease type 4C True False False +Orphanet:99950 Charcot-Marie-Tooth disease type 4D True False False +Orphanet:99951 Charcot-Marie-Tooth disease type 4E True False False +Orphanet:99952 Charcot-Marie-Tooth disease type 4F True False False +Orphanet:99953 Charcot-Marie-Tooth disease type 4G True False False +Orphanet:99954 Charcot-Marie-Tooth disease type 4H True False False +Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 True False False +Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 True False False +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 True False False +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 True False False +Orphanet:99965 O'Sullivan-McLeod syndrome True False False +Orphanet:99966 Atypical teratoid rhabdoid tumor True False False +Orphanet:99967 Myxoid/round cell liposarcoma True False False +Orphanet:99969 Pleomorphic liposarcoma True False False +Orphanet:99970 Dedifferentiated liposarcoma True False False +Orphanet:99971 Well-differentiated liposarcoma True False False +Orphanet:99976 Adenocarcinoma of the esophagus True False False +Orphanet:99977 Squamous cell carcinoma of the esophagus True False False +Orphanet:99978 Klatskin tumor True False False +Orphanet:99981 Apnea of prematurity True False False +Orphanet:99983 Cutaneous myiasis True False False +Orphanet:99989 Intermediate DEND syndrome True False False +Orphanet:99990 Brill-Zinsser disease True False False +Orphanet:99991 Relapsing epidemic typhus True False False +Orphanet:99994 Complex regional pain syndrome type 2 True False False +Orphanet:99995 Complex regional pain syndrome type 1 True False False +Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies True True False +Orphanet:100076 Duodenal neuroendocrine tumor True True False +Orphanet:100077 Jejunal neuroendocrine tumor True True False +Orphanet:101987 Constitutional neutropenia True True False +Orphanet:104003 Congenital intestinal transport defect True True False +Orphanet:104007 Congenital enteropathy involving intestinal mucosa development True True False +Orphanet:104008 Short bowel syndrome True True False +Orphanet:104009 Rare disease involving intestinal motility True True False +Orphanet:104010 Intestinal polyposis syndrome True True False +Orphanet:104011 Rare tumor of intestine True True False +Orphanet:104012 Rare inflammatory bowel disease True True False +Orphanet:108967 Non-syndromic intestinal malformation True True False +Orphanet:108969 Syndromic intestinal malformation True True False +Orphanet:108971 Non-syndromic visceral malformation True True False +Orphanet:117573 Syndromic anorectal malformation True True False +Orphanet:1303 Bronchiolitis obliterans True True False +Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis True True False +Orphanet:158038 Primary hemophagocytic lymphohistiocytosis True True False +Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption True True False +Orphanet:164823 Rare acquired aplastic anemia True True False +Orphanet:165704 Non-syndromic urogenital tract malformation True True False +Orphanet:167714 Unclassified acute myeloid leukemia True True False +Orphanet:168807 Primary malignant peritoneal tumor True True False +Orphanet:168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 True True False +Orphanet:168956 Hypereosinophilic syndrome True True False +Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies True True False +Orphanet:169355 Immunodeficiency syndrome with autoimmunity True True False +Orphanet:171895 Myeloid hemopathy True True False +Orphanet:171898 Lymphoid hemopathy True True False +Orphanet:171901 Primary cutaneous T-cell lymphoma True True False +Orphanet:171915 B-cell non-Hodgkin lymphoma True True False +Orphanet:171918 T-cell non-Hodgkin lymphoma True True False +Orphanet:178548 Indolent primary cutaneous T-cell lymphoma True True False +Orphanet:178551 Aggressive primary cutaneous T-cell lymphoma True True False +Orphanet:178554 Aggressive primary cutaneous B-cell lymphoma True True False +Orphanet:178557 Indolent primary cutaneous B-cell lymphoma True True False +Orphanet:178563 Primary cutaneous B-cell lymphoma True True False +Orphanet:178566 Mycosis fungoides and variants True True False +Orphanet:180065 Non-syndromic uterovaginal malformation True True False +Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts True True False +Orphanet:180071 Unilateral aplasia of the Müllerian ducts True True False +Orphanet:180122 Septate uterus True True False +Orphanet:180134 Bicornuate uterus True True False +Orphanet:180151 Rare vaginal malformation True True False +Orphanet:182040 Rare aplastic anemia True True False +Orphanet:182090 Pulmonary arterial hypertension True True False +Orphanet:182095 Interstitial lung disease True True False +Orphanet:182098 Pneumoconiosis True True False +Orphanet:182101 Idiopathic eosinophilic pneumonia True True False +Orphanet:182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease True True False +Orphanet:182117 Non-syndromic urogenital tract malformation of female True True False +Orphanet:182121 Non-syndromic urogenital tract malformation of male True True False +Orphanet:182124 Non-syndromic urogenital tract malformation of male and female True True False +Orphanet:183660 Severe combined immunodeficiency True True False +Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma True True False +Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency True True False +Orphanet:217071 Renal cell carcinoma True True False +Orphanet:217569 Rare hypertrophic cardiomyopathy True True False +Orphanet:217572 Glycogen storage disease with hypertrophic cardiomyopathy True True False +Orphanet:217581 Lysosomal disease with hypertrophic cardiomyopathy True True False +Orphanet:217587 Mitochondrial disease with hypertrophic cardiomyopathy True True False +Orphanet:217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy True True False +Orphanet:217595 Syndrome associated with hypertrophic cardiomyopathy True True False +Orphanet:217598 Non-familial hypertrophic cardiomyopathy True True False +Orphanet:217610 Neuromuscular disease with dilated cardiomyopathy True True False +Orphanet:217613 Mitochondrial disease with dilated cardiomyopathy True True False +Orphanet:217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy True True False +Orphanet:217619 Syndrome associated with dilated cardiomyopathy True True False +Orphanet:217638 Lysosomal disease with restrictive cardiomyopathy True True False +Orphanet:220489 Rare hereditary hemochromatosis True True False +Orphanet:223735 Lymphoma True True False +Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly True True False +Orphanet:231386 Beta-thalassemia with other manifestations True True False +Orphanet:232288 Syndrome with alpha-thalassemia as a major feature True True False +Orphanet:235936 Familial hyperaldosteronism True True False +Orphanet:238510 Lymphoproliferative syndrome True True False +Orphanet:238517 Hypotonia-cystinuria type 1 syndrome True True False +Orphanet:2442 X-linked lymphoproliferative disease True True False +Orphanet:247 Inherited arrhythmogenic cardiomyopathy True True False +Orphanet:251355 Sickle cell disease associated with another hemoglobin anomaly True True False +Orphanet:251995 Primary germ cell tumor of central nervous system True True False +Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma True True False +Orphanet:262 Duchenne and Becker muscular dystrophy True True False +Orphanet:264656 Interstitial lung disease specific to childhood True True False +Orphanet:264665 Primary interstitial lung disease specific to childhood True True False +Orphanet:264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder True True False +Orphanet:264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder True True False +Orphanet:264694 Interstitial lung disease specific to infancy True True False +Orphanet:264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease True True False +Orphanet:264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease True True False +Orphanet:264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis True True False +Orphanet:264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease True True False +Orphanet:264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease True True False +Orphanet:264735 Interstitial lung disease specific to adulthood True True False +Orphanet:264740 Primary interstitial lung disease specific to adulthood True True False +Orphanet:264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease True True False +Orphanet:264757 Interstitial lung disease in childhood and adulthood True True False +Orphanet:264762 Primary interstitial lung disease in childhood and adulthood True True False +Orphanet:264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder True True False +Orphanet:264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder True True False +Orphanet:264944 Secondary interstitial lung disease in childhood and adulthood True True False +Orphanet:264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease True True False +Orphanet:264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease True True False +Orphanet:264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis True True False +Orphanet:264984 Exposure-related interstitial lung disease True True False +Orphanet:271861 Hereditary ATTR amyloidosis True True False +Orphanet:275745 Alpha-thalassemia and related disorders True True False +Orphanet:275749 Beta-thalassemia and related diseases True True False +Orphanet:275752 Sickle cell disease and related diseases True True False +Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension True True False +Orphanet:275791 Pulmonary arterial hypertension associated with another disease True True False +Orphanet:275798 Pulmonary arterial hypertension associated with connective tissue disease True True False +Orphanet:275803 Pulmonary arterial hypertension associated with congenital heart disease True True False +Orphanet:275808 Pulmonary arterial hypertension associated with HIV infection True True False +Orphanet:275813 Pulmonary arterial hypertension associated with portal hypertension True True False +Orphanet:275823 Pulmonary arterial hypertension associated with schistosomiasis True True False +Orphanet:275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia True True False +Orphanet:2781 Osteopetrosis and related disorders True True False +Orphanet:279911 Primary organ-specific lymphoma True True False +Orphanet:284385 Familial intrahepatic cholestasis True True False +Orphanet:300842 Indolent B-cell non-Hodgkin lymphoma True True False +Orphanet:300846 Aggressive B-cell non-Hodgkin lymphoma True True False +Orphanet:300912 Marginal zone lymphoma True True False +Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract True True False +Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract True True False +Orphanet:309144 Gangliosidosis True True False +Orphanet:309152 GM2 gangliosidosis True True False +Orphanet:309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation True True False +Orphanet:31740 Hypersensitivity pneumonitis True True False +Orphanet:317416 T-B+ severe combined immunodeficiency True True False +Orphanet:317419 T-B- severe combined immunodeficiency True True False +Orphanet:3188 Congenital pulmonary veins atresia or stenosis True True False +Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy True True False +Orphanet:325357 46,XY difference of sex development due to impaired androgen production True True False +Orphanet:325511 46,XY difference of sex development due to a cholesterol synthesis defect True True False +Orphanet:325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors True True False +Orphanet:331184 Constitutional neutropenia with extra-hematopoietic manifestations True True False +Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells True True False +Orphanet:331249 Immunodeficiency syndrome with hypopigmentation True True False +Orphanet:3399 Germ cell tumor True True False +Orphanet:357502 Idiopathic nephrotic syndrome True True False +Orphanet:35807 Malignant germ cell tumor of ovary True True False +Orphanet:363504 Germ cell tumor of testis True True False +Orphanet:363579 Extragonadal germ cell tumor True True False +Orphanet:363582 Gonadal germ cell tumor True True False +Orphanet:365563 Primary short bowel syndrome True True False +Orphanet:371176 Congenital disorder of glycosylation with dilated cardiomyopathy True True False +Orphanet:397802 T+ B+ severe combined immunodeficiency True True False +Orphanet:404580 Polyarticular juvenile idiopathic arthritis True True False +Orphanet:423793 Rare tumor of small intestine True True False +Orphanet:423798 Mesenchymal tumor of small intestine True True False +Orphanet:423957 Rare carcinoma of small intestine True True False +Orphanet:423975 Neuroendocrine tumor of the small intestine True True False +Orphanet:423982 Epithelial tumor of the appendix True True False +Orphanet:423991 Rare epithelial tumor of colon True True False +Orphanet:423998 Rare epithelial tumor of rectum True True False +Orphanet:424010 Epithelial tumor of anal canal True True False +Orphanet:424013 Carcinoma of the anal canal True True False +Orphanet:424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract True True False +Orphanet:424936 Carcinoma of liver and intrahepatic biliary tract True True False +Orphanet:425368 Rare epithelial tumor of small intestine True True False +Orphanet:42738 Severe congenital neutropenia True True False +Orphanet:435365 Fetal lower urinary tract obstruction True True False +Orphanet:435743 Congenital urachal anomaly True True False +Orphanet:439246 ABeta2M amyloidosis True True False +Orphanet:439849 Autosomal recessive severe congenital neutropenia True True False +Orphanet:443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect True True False +Orphanet:444941 Caudal regression-sirenomelia spectrum True True False +Orphanet:447771 Sclerosing cholangitis True True False +Orphanet:480549 Non-severe combined immunodeficiency True True False +Orphanet:485631 Congenital bile acid synthesis defect True True False +Orphanet:512034 Large granular lymphocyte leukemia True True False +Orphanet:513 Acute lymphoblastic leukemia True True False +Orphanet:519 Acute myeloid leukemia True True False +Orphanet:52688 Myelodysplastic syndrome True True False +Orphanet:529974 Immune dysregulation with inflammatory bowel disease True True False +Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease True True False +Orphanet:542 Primary cutaneous lymphoma True True False +Orphanet:544 Diffuse large B-cell lymphoma True True False +Orphanet:544458 Hemolytic uremic syndrome True True False +Orphanet:547 Non-Hodgkin lymphoma True True False +Orphanet:557 Non-syndromic anorectal malformation True True False +Orphanet:557866 Rare disorder with Hirschsprung disease as a major feature True True False +Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract True True False +Orphanet:567554 Systemic disease with glomerulopathy as a major feature True True False +Orphanet:567564 Nephrotic syndrome without extrarenal manifestations True True False +Orphanet:68364 Hemoglobinopathy True True False +Orphanet:68383 Rare constitutional aplastic anemia True True False +Orphanet:69 Amyloidosis True True False +Orphanet:73014 Intractable diarrhea of infancy True True False +Orphanet:73217 Müllerian aplasia True True False +Orphanet:79188 Peroxisomal beta-oxidation disorder True True False +Orphanet:79204 Lipid storage disease True True False +Orphanet:79213 Mucopolysaccharidosis True True False +Orphanet:79225 Sphingolipidosis True True False +Orphanet:86836 Refractory cytopenia with multilineage dysplasia True True False +Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome True True False +Orphanet:86851 Acute leukemia of ambiguous lineage True True False +Orphanet:88673 Hepatocellular carcinoma True True False +Orphanet:90783 46,XY difference of sex development due to a testosterone synthesis defect True True False +Orphanet:90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect True True False +Orphanet:90787 46,XY difference of sex development due to testicular steroidogenesis defect True True False +Orphanet:91137 Immunotactoid or fibrillary glomerulopathy True True False +Orphanet:92 Juvenile idiopathic arthritis True True False +Orphanet:93546 Non-syndromic renal or urinary tract malformation True True False +Orphanet:93547 Syndromic renal or urinary tract malformation True True False +Orphanet:93548 Glomerular disease True True False +Orphanet:96346 Anorectal malformation True True False +Orphanet:97292 Cardiogenic shock True True False +Orphanet:97945 Intestinal malformation True True False +Orphanet:98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue True True False +Orphanet:98274 Myeloproliferative neoplasm True True False +Orphanet:98275 Myelodysplastic/myeloproliferative disease True True False +Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly True True False +Orphanet:98282 Plasma cell tumor True True False +Orphanet:98287 Histiocytic and dendritic cell tumor True True False +Orphanet:98288 Macrophage or histiocytic tumor True True False +Orphanet:98289 Dendritic cell tumor True True False +Orphanet:98290 Immunodeficiency-associated lymphoproliferative disease True True False +Orphanet:98291 Lymphoproliferative disease associated with primary immune disease True True False +Orphanet:98293 Hodgkin lymphoma True True False +Orphanet:98300 Idiopathic interstitial pneumonia True True False +Orphanet:98421 Primary acquired red cell aplasia True True False +Orphanet:98555 Microphthalmia-anophthalmia-coloboma True True False +Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy True True False +Orphanet:99909 Occupational allergic alveolitis True True False +Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor True True False +Orphanet:101949 OBSOLETE: Rare acquired eye disease True True True +Orphanet:102373 OBSOLETE: Primary glomerular disease True True True +Orphanet:103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome True True True +Orphanet:103916 OBSOLETE: Autoimmune enteropathy type 2 True True True +Orphanet:108985 OBSOLETE: Non-syndromic developmental defect of the eye True True True +Orphanet:108987 OBSOLETE: Syndromic developmental defect of the eye True True True +Orphanet:1136 OBSOLETE: Arnold-Chiari malformation type II True True True +Orphanet:1245 BIDS syndrome True True True +Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome True True True +Orphanet:1306 NON RARE IN EUROPE: Buschke-Ollendorff syndrome True True True +Orphanet:1317 CAMFAK syndrome True True True +Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome True True True +Orphanet:137902 OBSOLETE: Isolated optic nerve hypoplasia/aplasia True True True +Orphanet:137911 Autism-facial port-wine stain syndrome True True True +Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis True True True +Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex True True True +Orphanet:158796 OBSOLETE: Classic mast cell leukemia True True True +Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens True True True +Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies True True True +Orphanet:163918 OBSOLETE: Non-paraneoplastic limbic encephalitis True True True +Orphanet:163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type True True True +Orphanet:169615 NON RARE IN EUROPE: Idiopathic central precocious puberty True True True +Orphanet:169618 NON RARE IN EUROPE: Secondary central precocious puberty True True True +Orphanet:1795 OBSOLETE: Peripheral dysostosis True True True +Orphanet:181425 OBSOLETE: Rare major hypertriglyceridemia True True True +Orphanet:182073 OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability True True True +Orphanet:182076 OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability True True True +Orphanet:182214 OBSOLETE: Rare inflammatory eye disease True True True +Orphanet:183598 OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease True True True +Orphanet:183601 OBSOLETE: Rare genetic refraction anomaly True True True +Orphanet:189439 OBSOLETE: Primary pigmented nodular adrenocortical disease True True True +Orphanet:1939 OBSOLETE: Envenomization by Bothrops lanceolatus True True True +Orphanet:2042 OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome True True True +Orphanet:206473 OBSOLETE: Borderline epithelial tumor of ovary True True True +Orphanet:206659 OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly True True True +Orphanet:206985 OBSOLETE: Drug and/or toxic myopathy True True True +Orphanet:208981 OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies True True True +Orphanet:213517 OBSOLETE: Familial ovarian cancer True True True +Orphanet:213524 Hereditary site-specific ovarian cancer syndrome True True True +Orphanet:213574 OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri True True True +Orphanet:213817 OBSOLETE: Papillary carcinoma of the cervix uteri True True True +Orphanet:2194 OBSOLETE: Anti-HLA hyperimmunization True True True +Orphanet:228329 OBSOLETE: CLN1 disease True True True +Orphanet:228337 OBSOLETE: CLN10 disease True True True +Orphanet:228340 OBSOLETE: CLN4A disease True True True +Orphanet:228343 OBSOLETE: CLN4B disease True True True +Orphanet:228346 OBSOLETE: CLN3 disease True True True +Orphanet:228349 OBSOLETE: CLN2 disease True True True +Orphanet:228354 OBSOLETE : CLN8 disease True True True +Orphanet:228357 OBSOLETE: CLN9 disease True True True +Orphanet:228360 OBSOLETE: CLN5 disease True True True +Orphanet:228363 OBSOLETE: CLN6 disease True True True +Orphanet:228366 OBSOLETE: CLN7 disease True True True +Orphanet:2292 OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome True True True +Orphanet:238755 OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H True True True +Orphanet:248305 OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency True True True +Orphanet:251880 Ependymoblastoma True True True +Orphanet:251883 Medulloepithelioma of the central nervous system True True True +Orphanet:254793 OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA True True True +Orphanet:255241 Leigh syndrome with leukodystrophy True True True +Orphanet:255249 Leigh syndrome with nephrotic syndrome True True True +Orphanet:263558 OBSOLETE: Peeling skin syndrome type C True True True +Orphanet:263676 OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features True True True +Orphanet:2641 OBSOLETE: Micromelic dwarfism, Fryns type True True True +Orphanet:264955 OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood True True True +Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C True True True +Orphanet:268377 OBSOLETE: Total spina bifida aperta True True True +Orphanet:268384 OBSOLETE: Thoracolumbosacral spina bifida aperta True True True +Orphanet:268388 OBSOLETE: Lumbosacral spina bifida aperta True True True +Orphanet:268392 OBSOLETE: Cervical spina bifida aperta True True True +Orphanet:268397 OBSOLETE: Cervicothoracic spina bifida aperta True True True +Orphanet:268740 OBSOLETE: Upper thoracic spina bifida aperta True True True +Orphanet:268748 OBSOLETE: Total spina bifida cystica True True True +Orphanet:268752 OBSOLETE: Thoracolumbosacral spina bifida cystica True True True +Orphanet:268758 OBSOLETE: Lumbosacral spina bifida cystica True True True +Orphanet:268762 OBSOLETE: Cervical spina bifida cystica True True True +Orphanet:268766 OBSOLETE: Cervicothoracic spina bifida cystica True True True +Orphanet:268770 OBSOLETE: Upper thoracic spina bifida cystica True True True +Orphanet:268832 OBSOLETE: Lipoma associated with neurospinal dysraphism True True True +Orphanet:268835 Lipomyelomeningocele True True True +Orphanet:268838 OBSOLETE: Leptomyelolipoma True True True +Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome True True True +Orphanet:280651 OBSOLETE: Acrodysostosis with multiple hormone resistance True True True +Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis True True True +Orphanet:2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome True True True +Orphanet:2861 OBSOLETE: Short stature-microcephaly-heart defect syndrome True True True +Orphanet:289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency True True True +Orphanet:2925 OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome True True True +Orphanet:294929 OBSOLETE: Terminal limb defects True True True +Orphanet:294931 OBSOLETE: Adactyly of hand True True True +Orphanet:294935 OBSOLETE: Split hand or/and split foot malformation True True True +Orphanet:294990 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb True True True +Orphanet:295008 OBSOLETE: Postaxial polydactyly of toes True True True +Orphanet:295010 OBSOLETE: Central polydactyly of toes True True True +Orphanet:295085 OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral True True True +Orphanet:295087 OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral True True True +Orphanet:295110 OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral True True True +Orphanet:295112 OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral True True True +Orphanet:295114 OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral True True True +Orphanet:295179 OBSOLETE: Postaxial polydactyly of toes, unilateral True True True +Orphanet:295181 OBSOLETE: Postaxial polydactyly of toes, bilateral True True True +Orphanet:295183 OBSOLETE: Central polydactyly of toes, unilateral True True True +Orphanet:295185 OBSOLETE: Central polydactyly of toes, bilateral True True True +Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary True True True +Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome True True True +Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature True True True +Orphanet:309239 OBSELETE:Tay-Sachs disease, B1 variant True True True +Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen True True True +Orphanet:314629 OBSOLETE: CLN11 disease True True True +Orphanet:3267 OBSOLETE: Familial lambdoid synostosis True True True +Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency True True True +Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome True True True +Orphanet:3460 Torg-Winchester syndrome True True True +Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes True True True +Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection True True True +Orphanet:35098 OBSOLETE: Isolated plagiocephaly True True True +Orphanet:352709 OBSOLETE: CLN13 disease True True True +Orphanet:352740 Ocular albinism with congenital sensorineural deafness True True True +Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type True True True +Orphanet:371054 OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature True True True +Orphanet:371064 OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature True True True +Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 True True True +Orphanet:443287 OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor True True True +Orphanet:448348 OBSOLETE: X-linked acrogigantism due to a point mutation True True True +Orphanet:458841 OBSOLETE: Primary lymphedema with associated anomalies True True True +Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria True True True +Orphanet:466801 OBSOLETE: LIMS2-related myopathy True True True +Orphanet:493348 OBSOLETE: Vibratory angioedema True True True +Orphanet:498700 OBSOLETE: Limbic encephalitis with neurexin-3 antibodies True True True +Orphanet:499004 OBSOLETE: Tuberculous meningitis True True True +Orphanet:553 OBSOLETE: Cushing syndrome True True True +Orphanet:587 Muir-Torre syndrome True True True +Orphanet:623 NAME syndrome True True True +Orphanet:70474 Leigh syndrome with cardiomyopathy True True True +Orphanet:717 OBSOLETE: Catecholamine-producing tumor True True True +Orphanet:759 NON RARE IN EUROPE: Central precocious puberty True True True +Orphanet:79211 OBSOLETE: Combined hyperlipidemia True True True +Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia True True True +Orphanet:83648 OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome True True True +Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome True True True +Orphanet:89832 OBSOLETE: Syndromic lymphedema True True True +Orphanet:93221 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes True True True +Orphanet:93222 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation True True True +Orphanet:93359 OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity True True True +Orphanet:93550 OBSOLETE: Basement membrane disease True True True +Orphanet:93551 OBSOLETE: Secondary glomerular disease True True True +Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome True True True +Orphanet:93942 OBSOLETE: Superior celosomia True True True +Orphanet:93970 Holmes-Gang syndrome True True True +Orphanet:93972 Juberg-Marsidi syndrome True True True +Orphanet:93975 OBSOLETE: Renier-Gabreels-Jasper syndrome True True True +Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery True True True +Orphanet:95701 OBSOLETE: Congenital adrenal hypoplasia of maternal cause True True True +Orphanet:96136 OBSOLETE: Non-distal monosomy 7p True True True +Orphanet:96152 OBSOLETE: Distal monosomy 20q True True True +Orphanet:96369 OBSOLETE: Early-onset schizophrenia True True True +Orphanet:97556 Congenital and infantile nephrotic syndrome True True True +Orphanet:98345 OBSOLETE: Rare idiopathic male infertility True True True +Orphanet:98554 OBSOLETE: Major induction processes eye anomaly True True True +Orphanet:98558 OBSOLETE: Rare eye disease due to a differentiation anomaly True True True +Orphanet:98559 OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease True True True +Orphanet:98569 OBSOLETE: Secondary entropion True True True +Orphanet:98572 OBSOLETE: Canthal anomaly True True True +Orphanet:98573 OBSOLETE: Epicanthal fold True True True +Orphanet:98577 OBSOLETE: Kinetic eyelid anomaly True True True +Orphanet:98579 OBSOLETE: Congenital upper palpebral retraction True True True +Orphanet:98583 OBSOLETE: Precancerous lesion of palpebral epidermis True True True +Orphanet:98585 OBSOLETE: Palpebral sebaceous gland tumor True True True +Orphanet:98586 OBSOLETE: Pigmented palpebral tumor True True True +Orphanet:98587 OBSOLETE: Palpebral lentiginosis True True True +Orphanet:98590 OBSOLETE: Palpebral piliary tumor True True True +Orphanet:98591 OBSOLETE: Mesenchymatous palpebral tumor True True True +Orphanet:98592 OBSOLETE: Palpebral tumor with a vascular malformation True True True +Orphanet:98595 OBSOLETE: Eyebrow/eyelashes hypertrichosis True True True +Orphanet:98596 OBSOLETE: Eyebrow hypertrophy True True True +Orphanet:98597 OBSOLETE: Eyelashes hypertrophy True True True +Orphanet:98598 OBSOLETE: Congenital absence of the eyebrow/eyelashes True True True +Orphanet:98599 OBSOLETE: Eyebrow/eyelashes structural anomaly True True True +Orphanet:98600 OBSOLETE: Eyebrow/eyelashes distichiasis True True True +Orphanet:98601 OBSOLETE: Eyebrow/eyelashes pigmentation anomaly True True True +Orphanet:98603 OBSOLETE: Secretory apparatus of the lacrimal system anomaly True True True +Orphanet:98608 OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system True True True +Orphanet:98611 OBSOLETE: Conjunctival vascular anomaly True True True +Orphanet:98612 OBSOLETE: Conjunctival hemangioma or hemolymphangioma True True True +Orphanet:98613 OBSOLETE: Conjunctival telangiectasia True True True +Orphanet:98614 OBSOLETE: Conjunctival lymphangiectasia True True True +Orphanet:98615 OBSOLETE: Pigmented conjunctival lesion True True True +Orphanet:98617 OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma True True True +Orphanet:98620 OBSOLETE: Syndromic myopia True True True +Orphanet:98632 OBSOLETE: Glaucoma associated with neural crest cell migration anomaly True True True +Orphanet:98633 OBSOLETE: Goniodysgenesis True True True +Orphanet:98636 OBSOLETE: Corneoiridogoniodysgenesis True True True +Orphanet:98637 OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly True True True +Orphanet:98643 OBSOLETE: Systemic disease with cataract True True True +Orphanet:98645 OBSOLETE: Cerebral disease with cataract True True True +Orphanet:98647 OBSOLETE: Cardiac disease with cataract True True True +Orphanet:98657 OBSOLETE: Genetic vitreous-retinal disease True True True +Orphanet:98662 OBSOLETE: Unclassified familial retinal dystrophy True True True +Orphanet:98665 OBSOLETE: Colobomatous and areolar dystrophy True True True +Orphanet:98666 OBSOLETE: Unclassified primitive or secondary maculopathy True True True +Orphanet:98667 OBSOLETE: Disease predisposing to age-related macular degeneration True True True +Orphanet:98689 OBSOLETE: Myopathy with eye involvement True True True +Orphanet:98690 OBSOLETE: Myasthenic syndrome with eye involvement True True True +Orphanet:98691 OBSOLETE: Abnormal eye movements True True True +Orphanet:98692 OBSOLETE: Nervous system anomaly with eye involvement True True True +Orphanet:98693 OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly True True True +Orphanet:98694 OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly True True True +Orphanet:98695 OBSOLETE: Mitochondrial disease with eye involvement True True True +Orphanet:98696 OBSOLETE: Genodermatosis with ocular features True True True +Orphanet:98697 OBSOLETE: Genetic keratinization disorder associated with ocular features True True True +Orphanet:98698 OBSOLETE: Ichthyosis associated with ocular features True True True +Orphanet:98699 OBSOLETE: Syndromic ichthyosis associated with ocular features True True True +Orphanet:98700 OBSOLETE: Pigmentation disorder with eye involvement True True True +Orphanet:98701 OBSOLETE: Phakomatosis with eye involvement True True True +Orphanet:98703 OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features True True True +Orphanet:98704 OBSOLETE: Onycho-patellar syndrome with eye involvement True True True +Orphanet:98708 OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism True True True +Orphanet:98710 OBSOLETE: Metabolic disease associated with ocular features True True True +Orphanet:98711 OBSOLETE: Metabolic disease with corneal opacity True True True +Orphanet:98712 OBSOLETE: Metabolic disease with cataract True True True +Orphanet:98713 OBSOLETE: Metabolic disease with pigmentary retinitis True True True +Orphanet:98714 OBSOLETE: Metabolic disease with macular cherry-red spot True True True +Orphanet:99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 True True True +Orphanet:99878 OBSOLETE: Primary parathyroid hyperplasia True True True +Orphanet:99893 OBSOLETE: ACTH-independent Cushing syndrome True True True diff --git a/src/ontology/reports/ordo_term_exclusions.txt b/src/ontology/reports/ordo_term_exclusions.txt index 35322499..c8c0266e 100644 --- a/src/ontology/reports/ordo_term_exclusions.txt +++ b/src/ontology/reports/ordo_term_exclusions.txt @@ -627,7 +627,6 @@ Orphanet:120218 Orphanet:120220 Orphanet:120223 Orphanet:120227 -Orphanet:120231 Orphanet:120233 Orphanet:120236 Orphanet:120239 @@ -1547,6 +1546,7 @@ Orphanet:1260 Orphanet:1266 Orphanet:1271 Orphanet:1301 +Orphanet:1303 Orphanet:1306 Orphanet:1317 Orphanet:132262 @@ -2151,6 +2151,7 @@ Orphanet:179413 Orphanet:179419 Orphanet:179459 Orphanet:179462 +Orphanet:1795 Orphanet:1800 Orphanet:180065 Orphanet:180068 @@ -2431,6 +2432,7 @@ Orphanet:218432 Orphanet:218672 Orphanet:218675 Orphanet:2190 +Orphanet:2194 Orphanet:220489 Orphanet:220737 Orphanet:220744 @@ -2515,6 +2517,17 @@ Orphanet:227786 Orphanet:228215 Orphanet:228315 Orphanet:228318 +Orphanet:228329 +Orphanet:228337 +Orphanet:228340 +Orphanet:228343 +Orphanet:228346 +Orphanet:228349 +Orphanet:228354 +Orphanet:228357 +Orphanet:228360 +Orphanet:228363 +Orphanet:228366 Orphanet:2284 Orphanet:228407 Orphanet:228418 @@ -2619,109 +2632,13 @@ Orphanet:240669 Orphanet:240672 Orphanet:240686 Orphanet:240691 -Orphanet:240843 -Orphanet:240847 -Orphanet:240849 -Orphanet:240851 -Orphanet:240853 -Orphanet:240855 -Orphanet:240857 -Orphanet:240859 -Orphanet:240861 -Orphanet:240865 -Orphanet:240873 -Orphanet:240875 -Orphanet:240877 -Orphanet:240879 -Orphanet:240881 -Orphanet:240883 -Orphanet:240889 -Orphanet:240891 -Orphanet:240893 -Orphanet:240895 -Orphanet:240897 -Orphanet:240899 -Orphanet:240901 -Orphanet:240903 -Orphanet:240907 -Orphanet:240909 -Orphanet:240911 -Orphanet:240913 -Orphanet:240915 -Orphanet:240917 -Orphanet:240919 -Orphanet:240923 -Orphanet:240925 -Orphanet:240927 -Orphanet:240929 -Orphanet:240931 -Orphanet:240933 Orphanet:240935 -Orphanet:240937 -Orphanet:240939 -Orphanet:240941 -Orphanet:240943 -Orphanet:240945 Orphanet:240947 -Orphanet:240949 -Orphanet:240951 -Orphanet:240953 -Orphanet:240955 -Orphanet:240957 -Orphanet:240959 -Orphanet:240961 -Orphanet:240963 -Orphanet:240965 -Orphanet:240967 -Orphanet:240969 -Orphanet:240971 -Orphanet:240973 -Orphanet:240975 -Orphanet:240977 -Orphanet:240979 -Orphanet:240981 -Orphanet:240983 -Orphanet:240985 -Orphanet:240987 -Orphanet:240989 -Orphanet:240991 -Orphanet:240993 -Orphanet:240995 -Orphanet:240997 -Orphanet:240999 -Orphanet:241001 -Orphanet:241003 -Orphanet:241005 -Orphanet:241007 -Orphanet:241009 -Orphanet:241011 -Orphanet:241013 -Orphanet:241015 -Orphanet:241017 -Orphanet:241019 -Orphanet:241021 -Orphanet:241023 -Orphanet:241025 -Orphanet:241027 -Orphanet:241029 -Orphanet:241031 -Orphanet:241033 -Orphanet:241035 -Orphanet:241037 -Orphanet:241039 -Orphanet:241041 Orphanet:241043 -Orphanet:241045 Orphanet:2416 Orphanet:2419 -Orphanet:241953 -Orphanet:241960 -Orphanet:241965 Orphanet:241969 -Orphanet:241984 -Orphanet:241987 Orphanet:241992 -Orphanet:241994 Orphanet:241999 Orphanet:242004 Orphanet:242313 @@ -2796,6 +2713,8 @@ Orphanet:251503 Orphanet:251633 Orphanet:251683 Orphanet:251688 +Orphanet:251880 +Orphanet:251883 Orphanet:251891 Orphanet:251995 Orphanet:252 @@ -3128,11 +3047,8 @@ Orphanet:2829 Orphanet:2837 Orphanet:283988 Orphanet:284102 -Orphanet:284108 -Orphanet:284113 Orphanet:284116 Orphanet:284121 -Orphanet:284125 Orphanet:284130 Orphanet:284146 Orphanet:284155 @@ -3470,8 +3386,6 @@ Orphanet:306519 Orphanet:306522 Orphanet:306539 Orphanet:306561 -Orphanet:306566 -Orphanet:306574 Orphanet:306588 Orphanet:306597 Orphanet:306633 @@ -3490,6 +3404,7 @@ Orphanet:3087 Orphanet:309139 Orphanet:309144 Orphanet:309152 +Orphanet:309239 Orphanet:309810 Orphanet:310043 Orphanet:310103 @@ -3518,8 +3433,6 @@ Orphanet:311145 Orphanet:3112 Orphanet:311271 Orphanet:311350 -Orphanet:311352 -Orphanet:311355 Orphanet:311367 Orphanet:311398 Orphanet:31142 @@ -3538,6 +3451,7 @@ Orphanet:3135 Orphanet:313822 Orphanet:313834 Orphanet:3140 +Orphanet:314629 Orphanet:314731 Orphanet:314894 Orphanet:314928 @@ -3598,7 +3512,6 @@ Orphanet:3185 Orphanet:318745 Orphanet:318754 Orphanet:3188 -Orphanet:318801 Orphanet:318839 Orphanet:318853 Orphanet:318860 @@ -3656,7 +3569,6 @@ Orphanet:323464 Orphanet:323471 Orphanet:324240 Orphanet:324251 -Orphanet:324270 Orphanet:324767 Orphanet:324982 Orphanet:324989 @@ -3752,7 +3664,6 @@ Orphanet:331184 Orphanet:331240 Orphanet:331249 Orphanet:3313 -Orphanet:3315 Orphanet:331658 Orphanet:331676 Orphanet:331681 @@ -3808,7 +3719,6 @@ Orphanet:3390 Orphanet:3391 Orphanet:3399 Orphanet:34 -Orphanet:34145 Orphanet:3419 Orphanet:3421 Orphanet:3423 @@ -3844,6 +3754,7 @@ Orphanet:352646 Orphanet:352694 Orphanet:352699 Orphanet:352704 +Orphanet:352709 Orphanet:352740 Orphanet:353211 Orphanet:353225 @@ -3916,7 +3827,6 @@ Orphanet:358399 Orphanet:358431 Orphanet:358443 Orphanet:358448 -Orphanet:358452 Orphanet:358558 Orphanet:358562 Orphanet:358571 @@ -4138,7 +4048,6 @@ Orphanet:398201 Orphanet:398212 Orphanet:398416 Orphanet:398677 -Orphanet:398980 Orphanet:400438 Orphanet:400443 Orphanet:400463 @@ -4298,7 +4207,6 @@ Orphanet:413674 Orphanet:413681 Orphanet:413684 Orphanet:413687 -Orphanet:413690 Orphanet:413847 Orphanet:413863 Orphanet:413970 @@ -4340,7 +4248,6 @@ Orphanet:422348 Orphanet:422397 Orphanet:422519 Orphanet:422551 -Orphanet:422883 Orphanet:422901 Orphanet:422916 Orphanet:422966 @@ -4354,7 +4261,6 @@ Orphanet:423668 Orphanet:423781 Orphanet:423793 Orphanet:423798 -Orphanet:423802 Orphanet:423957 Orphanet:423975 Orphanet:423982 @@ -4374,6 +4280,7 @@ Orphanet:426073 Orphanet:426083 Orphanet:426086 Orphanet:426145 +Orphanet:426564 Orphanet:426568 Orphanet:426776 Orphanet:426792 @@ -4607,7 +4514,6 @@ Orphanet:457252 Orphanet:457447 Orphanet:457451 Orphanet:457458 -Orphanet:457472 Orphanet:457490 Orphanet:457522 Orphanet:457556 @@ -4733,6 +4639,7 @@ Orphanet:470040 Orphanet:470042 Orphanet:470052 Orphanet:470056 +Orphanet:470084 Orphanet:470086 Orphanet:470098 Orphanet:470102 @@ -4741,7 +4648,6 @@ Orphanet:470140 Orphanet:470146 Orphanet:470150 Orphanet:470152 -Orphanet:470162 Orphanet:470170 Orphanet:470180 Orphanet:470184 @@ -5042,6 +4948,7 @@ Orphanet:495231 Orphanet:495237 Orphanet:495297 Orphanet:495680 +Orphanet:495724 Orphanet:495760 Orphanet:495783 Orphanet:496 @@ -5140,7 +5047,6 @@ Orphanet:50920 Orphanet:509232 Orphanet:509234 Orphanet:509236 -Orphanet:509238 Orphanet:509258 Orphanet:509260 Orphanet:509296 @@ -5451,6 +5357,7 @@ Orphanet:586501 Orphanet:586512 Orphanet:586548 Orphanet:586706 +Orphanet:587 Orphanet:587111 Orphanet:587118 Orphanet:587121 @@ -5462,6 +5369,7 @@ Orphanet:594386 Orphanet:594424 Orphanet:594489 Orphanet:594573 +Orphanet:594670 Orphanet:594702 Orphanet:594756 Orphanet:594773 @@ -5591,6 +5499,7 @@ Orphanet:618569 Orphanet:618572 Orphanet:618899 Orphanet:618944 +Orphanet:618952 Orphanet:619 Orphanet:619246 Orphanet:619249 @@ -5707,6 +5616,8 @@ Orphanet:650059 Orphanet:650061 Orphanet:651 Orphanet:65279 +Orphanet:652816 +Orphanet:653915 Orphanet:665 Orphanet:669 Orphanet:670 @@ -5747,7 +5658,6 @@ Orphanet:77302 Orphanet:77303 Orphanet:77304 Orphanet:775 -Orphanet:788 Orphanet:79022 Orphanet:79132 Orphanet:79142 diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index dbcf06c1..4f127543 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -1,9175 +1,167 @@ subject_id subject_label -Orphanet:276413 10q22.3q23.3 microdeletion syndrome -Orphanet:276422 10q22.3q23.3 microduplication syndrome -Orphanet:300305 11p15.4 microduplication syndrome -Orphanet:444002 11q22.2q22.3 microdeletion syndrome -Orphanet:313884 12p12.1 microdeletion syndrome -Orphanet:94063 12q14 microdeletion syndrome -Orphanet:289513 12q15q21.1 microdeletion syndrome -Orphanet:412035 13q12.3 microdeletion syndrome -Orphanet:261120 14q11.2 microdeletion syndrome -Orphanet:261229 14q11.2 microduplication syndrome -Orphanet:264200 14q22q23 microdeletion syndrome -Orphanet:401935 14q24.1q24.3 microdeletion syndrome -Orphanet:488280 14q32 duplication syndrome -Orphanet:314585 15q overgrowth syndrome -Orphanet:261183 15q11.2 microdeletion syndrome -Orphanet:238446 15q11q13 microduplication syndrome -Orphanet:199318 15q13.3 microdeletion syndrome -Orphanet:261190 15q14 microdeletion syndrome -Orphanet:94065 15q24 microdeletion syndrome -Orphanet:261211 16p11.2p12.2 microdeletion syndrome -Orphanet:261204 16p11.2p12.2 microduplication syndrome -Orphanet:485405 16p12.1p12.3 triplication syndrome -Orphanet:261236 16p13.11 microdeletion syndrome -Orphanet:261243 16p13.11 microduplication syndrome -Orphanet:96078 16p13.3 microduplication syndrome -Orphanet:352629 16q24.1 microdeletion syndrome -Orphanet:261250 16q24.3 microdeletion syndrome -Orphanet:1713 17p11.2 microduplication syndrome -Orphanet:217385 17p13.3 microduplication syndrome -Orphanet:97685 17q11 microdeletion syndrome -Orphanet:139474 17q11.2 microduplication syndrome -Orphanet:261265 17q12 microdeletion syndrome -Orphanet:261272 17q12 microduplication syndrome -Orphanet:363958 17q21.31 microdeletion syndrome -Orphanet:217340 17q21.31 microduplication syndrome -Orphanet:261279 17q23.1q23.2 microdeletion syndrome -Orphanet:529962 17q24.2 microdeletion syndrome -Orphanet:254346 19p13.12 microdeletion syndrome -Orphanet:357001 19p13.13 microdeletion syndrome -Orphanet:447980 19p13.3 microduplication syndrome -Orphanet:217346 19q13.11 microdeletion syndrome -Orphanet:293948 1p21.3 microdeletion syndrome -Orphanet:401986 1p31p32 microdeletion syndrome -Orphanet:456298 1p35.2 microdeletion syndrome -Orphanet:1606 1p36 deletion syndrome -Orphanet:250989 1q21.1 microdeletion syndrome -Orphanet:250994 1q21.1 microduplication syndrome -Orphanet:250999 1q41q42 microdeletion syndrome -Orphanet:238769 1q44 microdeletion syndrome -Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria -Orphanet:19 2-hydroxyglutaric aciduria -Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency -Orphanet:261295 20p12.3 microdeletion syndrome -Orphanet:313781 20p13 microdeletion syndrome -Orphanet:444051 20q11.2 microdeletion syndrome -Orphanet:363659 20q11.2 microduplication syndrome -Orphanet:261311 20q13.33 microdeletion syndrome -Orphanet:574 21q deletion syndrome -Orphanet:261323 21q22.11q22.12 microdeletion syndrome -Orphanet:567 22q11.2 deletion syndrome -Orphanet:1727 22q11.2 duplication syndrome -Orphanet:363680 2p13.2 microdeletion syndrome -Orphanet:261349 2p15p16.1 microdeletion syndrome -Orphanet:163693 2p21 microdeletion syndrome -Orphanet:369881 2p21 microdeletion syndrome without cystinuria -Orphanet:228402 2q23.1 microdeletion syndrome -Orphanet:313947 2q23.1 microduplication syndrome -Orphanet:1617 2q24 microdeletion syndrome -Orphanet:251014 2q31.1 microdeletion syndrome -Orphanet:251019 2q32q33 microdeletion syndrome -Orphanet:1001 2q37 microdeletion syndrome -Orphanet:20 3-hydroxy-3-methylglutaric aciduria -Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency -Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency -Orphanet:939 3-hydroxyisobutyric aciduria -Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency -Orphanet:289902 3-methylglutaconic aciduria -Orphanet:67046 3-methylglutaconic aciduria type 1 -Orphanet:67047 3-methylglutaconic aciduria type 3 -Orphanet:67048 3-methylglutaconic aciduria type 4 -Orphanet:445038 3-methylglutaconic aciduria type 7 -Orphanet:505208 3-methylglutaconic aciduria type 8 -Orphanet:505216 3-methylglutaconic aciduria type 9 -Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form -Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form -Orphanet:7 3C syndrome -Orphanet:2616 3M syndrome -Orphanet:293843 3MC syndrome -Orphanet:435638 3p25.3 microdeletion syndrome -Orphanet:1621 3q13 microdeletion syndrome -Orphanet:96095 3q26 microduplication syndrome -Orphanet:356947 3q26q27 microdeletion syndrome -Orphanet:397695 3q27.3 microdeletion syndrome -Orphanet:65286 3q29 microdeletion syndrome -Orphanet:251038 3q29 microduplication syndrome -Orphanet:1772 45,X/46,XY mixed gonadal dysgenesis -Orphanet:2982 46,XX difference of sex development -Orphanet:98078 46,XX difference of sex development induced by androgens excess -Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen -Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen -Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess -Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess -Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen -Orphanet:2973 46,XX difference of sex development-anorectal anomalies syndrome -Orphanet:2975 46,XX difference of sex development-skeletal anomalies syndrome -Orphanet:325055 46,XX disorder of gonadal development -Orphanet:243 46,XX gonadal dysgenesis -Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome -Orphanet:2138 46,XX ovotesticular difference of sex development -Orphanet:393 46,XX testicular difference of sex development -Orphanet:242 46,XY complete gonadal dysgenesis -Orphanet:98085 46,XY difference of sex development -Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency -Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency -Orphanet:90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency -Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency -Orphanet:325351 46,XY difference of sex development of endocrine origin -Orphanet:325632 46,XY difference of sex development of gynecological interest -Orphanet:168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency -Orphanet:325118 46,XY disorder of gonadal development -Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome -Orphanet:325345 46,XY ovotesticular difference of sex development -Orphanet:251510 46,XY partial gonadal dysgenesis -Orphanet:8 47,XYY syndrome -Orphanet:96263 48,XXXY syndrome -Orphanet:10 48,XXYY syndrome -Orphanet:99329 48,XYYY syndrome -Orphanet:96264 49,XXXXY syndrome -Orphanet:261534 49,XXXYY syndrome -Orphanet:99330 49,XYYYY syndrome -Orphanet:289494 4H leukodystrophy -Orphanet:96072 4p16.3 microduplication syndrome -Orphanet:238750 4q21 microdeletion syndrome -Orphanet:502437 4q25 proximal deletion syndrome -Orphanet:217064 5-fluorouracil poisoning -Orphanet:33572 5-oxoprolinase deficiency -Orphanet:329802 5p13 microduplication syndrome -Orphanet:228384 5q14.3 microdeletion syndrome -Orphanet:228415 5q35 microduplication syndrome -Orphanet:99135 6-phosphogluconate dehydrogenase deficiency -Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency -Orphanet:251046 6p22 microdeletion syndrome -Orphanet:75857 6q terminal deletion syndrome -Orphanet:171829 6q16 microdeletion syndrome -Orphanet:251056 6q25 microdeletion syndrome -Orphanet:314034 7p22.1 microduplication syndrome -Orphanet:96121 7q11.23 microduplication syndrome -Orphanet:251061 7q31 microdeletion syndrome -Orphanet:96092 8p inverted duplication/deletion syndrome -Orphanet:251066 8p11.2 deletion syndrome -Orphanet:251076 8p23.1 duplication syndrome -Orphanet:251071 8p23.1 microdeletion syndrome -Orphanet:228399 8q12 microduplication syndrome -Orphanet:284160 8q21.11 microdeletion syndrome -Orphanet:178303 8q22.1 microdeletion syndrome -Orphanet:508488 8q24.3 microdeletion syndrome -Orphanet:324313 9p13 microdeletion syndrome -Orphanet:531151 9q21.13 microdeletion syndrome -Orphanet:401923 9q31.1q31.3 microdeletion syndrome -Orphanet:495818 9q33.3q34.11 microdeletion syndrome -Orphanet:85445 AA amyloidosis -Orphanet:93560 AApoAI amyloidosis -Orphanet:238269 AApoAII amyloidosis -Orphanet:439232 AApoAIV amyloidosis -Orphanet:324723 ABeta amyloidosis, Arctic type -Orphanet:100006 ABeta amyloidosis, Dutch type -Orphanet:324708 ABeta amyloidosis, Iowa type -Orphanet:324713 ABeta amyloidosis, Italian type -Orphanet:324718 ABetaA21G amyloidosis -Orphanet:324703 ABetaL34V amyloidosis -Orphanet:97345 ABri amyloidosis -Orphanet:99892 ACTH-dependent Cushing syndrome -Orphanet:100008 ACys amyloidosis -Orphanet:404448 ADNP syndrome -Orphanet:978 ADULT syndrome -Orphanet:97346 ADan amyloidosis -Orphanet:93562 AFib amyloidosis -Orphanet:85448 AGel amyloidosis -Orphanet:442582 AH amyloidosis -Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome -Orphanet:250977 AICA-ribosiduria -Orphanet:90081 AIDS wasting syndrome -Orphanet:79085 AKT2-related familial partial lipodystrophy -Orphanet:85443 AL amyloidosis -Orphanet:35664 ALDH18A1-related De Barsy syndrome -Orphanet:439224 ALECT2 amyloidosis -Orphanet:79327 ALG1-CDG -Orphanet:280071 ALG11-CDG -Orphanet:79324 ALG12-CDG -Orphanet:324422 ALG13-CDG -Orphanet:79326 ALG2-CDG -Orphanet:79321 ALG3-CDG -Orphanet:79320 ALG6-CDG -Orphanet:79325 ALG8-CDG -Orphanet:79328 ALG9-CDG -Orphanet:300903 ALK-negative anaplastic large cell lymphoma -Orphanet:300895 ALK-positive anaplastic large cell lymphoma -Orphanet:364043 ALK-positive large B-cell lymphoma -Orphanet:597887 ALPI-related inflammatory bowel disease -Orphanet:93561 ALys amyloidosis -Orphanet:157954 ANE syndrome -Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome -Orphanet:247806 APC-related attenuated familial adenomatous polyposis -Orphanet:1133 AREDYLD syndrome -Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum -Orphanet:182079 ARX-related epileptic encephalopathy -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis -Orphanet:514980 ATP13A2-related parkinsonism -Orphanet:85451 ATTRV122I amyloidosis -Orphanet:85447 ATTRV30M amyloidosis -Orphanet:401911 AXIN2-related attenuated familial adenomatous polyposis -Orphanet:915 Aarskog-Scott syndrome -Orphanet:916 Aase-Smith syndrome -Orphanet:14 Abetalipoproteinemia -Orphanet:920 Ablepharon macrostomia syndrome -Orphanet:99089 Abnormal number of coronary ostia -Orphanet:99050 Abnormal origin of right or left pulmonary artery from the aorta -Orphanet:1138 Abnormal origin of the pulmonary artery -Orphanet:921 Abruzzo-Erickson syndrome -Orphanet:2310 Absence deformity of leg-cataract syndrome -Orphanet:1658 Absence of fingerprints-congenital milia syndrome -Orphanet:99112 Absence of innominate vein -Orphanet:980 Absence of the pulmonary artery -Orphanet:180142 Absence of uterine body -Orphanet:3016 Absent radius-anogenital anomalies syndrome -Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome -Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome -Orphanet:945 Acalvaria -Orphanet:79468 Acanthokeratolytic verrucous nevus -Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome -Orphanet:926 Acatalasemia -Orphanet:99061 Accessory mitral valve tissue -Orphanet:674 Accessory pancreas -Orphanet:95462 Accessory tricuspid valve tissue -Orphanet:48818 Aceruloplasminemia -Orphanet:99736 Acetazolamide-responsive myotonia -Orphanet:929 Achalasia-microcephaly syndrome -Orphanet:294983 Acheiria -Orphanet:931 Acheiropodia -Orphanet:932 Achondrogenesis -Orphanet:93299 Achondrogenesis type 1A -Orphanet:93298 Achondrogenesis type 1B -Orphanet:93296 Achondrogenesis type 2 -Orphanet:15 Achondroplasia -Orphanet:49382 Achromatopsia -Orphanet:424046 Acinar cell carcinoma of pancreas -Orphanet:40366 Acitretin/etretinate embryopathy -Orphanet:454700 Acquired Creutzfeldt-Jakob disease -Orphanet:209013 Acquired amyloid peripheral neuropathy -Orphanet:90065 Acquired aneurysmal subarachnoid hemorrhage -Orphanet:91385 Acquired angioedema -Orphanet:100056 Acquired angioedema type 1 -Orphanet:100055 Acquired angioedema type 2 -Orphanet:528663 Acquired angioedema with C1Inh deficiency -Orphanet:247242 Acquired ataxia -Orphanet:95626 Acquired central diabetes insipidus -Orphanet:101963 Acquired chronic primary adrenal insufficiency -Orphanet:228285 Acquired cutis laxa -Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma -Orphanet:228218 Acquired dermis elastic tissue disorder -Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue -Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue -Orphanet:599490 Acquired factor V deficiency -Orphanet:599495 Acquired factor VII deficiency -Orphanet:599501 Acquired factor X deficiency -Orphanet:599507 Acquired factor XI deficiency -Orphanet:599513 Acquired factor XIII deficiency -Orphanet:79086 Acquired generalized lipodystrophy -Orphanet:158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease -Orphanet:599480 Acquired hemophilia A -Orphanet:599485 Acquired hemophilia B -Orphanet:576360 Acquired human prion disease -Orphanet:2221 Acquired hypertrichosis lanuginosa -Orphanet:454 Acquired ichthyosis -Orphanet:75564 Acquired idiopathic sideroblastic anemia -Orphanet:310050 Acquired immunodeficiency -Orphanet:37559 Acquired kinky hair syndrome -Orphanet:98307 Acquired lipodystrophy -Orphanet:464453 Acquired methemoglobinemia -Orphanet:91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome -Orphanet:98506 Acquired motor neuron disease -Orphanet:98494 Acquired neuromuscular junction disease -Orphanet:178996 Acquired neutropenia -Orphanet:79087 Acquired partial lipodystrophy -Orphanet:221114 Acquired peripheral movement disorder -Orphanet:182086 Acquired peripheral neuropathy -Orphanet:95502 Acquired pituitary hormone deficiency -Orphanet:314697 Acquired porencephaly -Orphanet:95709 Acquired premature ovarian failure -Orphanet:26348 Acquired prothrombin deficiency -Orphanet:228247 Acquired pseudoxanthoma elasticum -Orphanet:49566 Acquired purpura fulminans -Orphanet:485275 Acquired schizencephaly -Orphanet:238547 Acquired secondary polycythemia -Orphanet:208984 Acquired sensory ganglionopathy -Orphanet:206638 Acquired skeletal muscle disease -Orphanet:99147 Acquired von Willebrand syndrome -Orphanet:263534 Acral peeling skin syndrome -Orphanet:90396 Acral persistent papular mucinosis -Orphanet:281127 Acral self-healing collodion baby -Orphanet:958 Acro-renal-mandibular syndrome -Orphanet:959 Acro-renal-ocular syndrome -Orphanet:36 Acrocallosal syndrome -Orphanet:63446 Acrocapitofemoral dysplasia -Orphanet:2008 Acrocardiofacial syndrome -Orphanet:221054 Acrocephalopolydactyly -Orphanet:949 Acrocraniofacial dysostosis -Orphanet:163931 Acrodermatitis continua of Hallopeau -Orphanet:37 Acrodermatitis enteropathica -Orphanet:950 Acrodysostosis -Orphanet:2956 Acrodysplasia scoliosis -Orphanet:364574 Acrofacial dysostosis -Orphanet:1786 Acrofacial dysostosis, Catania type -Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type -Orphanet:1787 Acrofacial dysostosis, Palagonia type -Orphanet:1788 Acrofacial dysostosis, Rodríguez type -Orphanet:952 Acrofacial dysostosis, Weyers type -Orphanet:1784 Acrofrontofacionasal dysostosis -Orphanet:2500 Acrogeria -Orphanet:79356 Acrokeratoderma -Orphanet:38 Acrokeratoelastoidosis of Costa -Orphanet:79151 Acrokeratosis verruciformis of Hopf -Orphanet:963 Acromegaly -Orphanet:39 Acromelanosis -Orphanet:93436 Acromelic dysplasia -Orphanet:1827 Acromelic frontonasal dysplasia -Orphanet:93437 Acromesomelic dysplasia -Orphanet:2098 Acromesomelic dysplasia, Grebe type -Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type -Orphanet:40 Acromesomelic dysplasia, Maroteaux type -Orphanet:969 Acromicric dysplasia -Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome -Orphanet:2980 Acrootoocular syndrome -Orphanet:85203 Acropectoral syndrome -Orphanet:957 Acropectorovertebral dysplasia -Orphanet:971 Acrorenal syndrome -Orphanet:254395 Actinic lichen planus -Orphanet:330061 Actinic prurigo -Orphanet:457095 Actinomycosis -Orphanet:163696 Action myoclonus-renal failure syndrome -Orphanet:397596 Activated PI3K-delta syndrome -Orphanet:73423 Acute ackee fruit intoxication -Orphanet:95409 Acute adrenal insufficiency -Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy -Orphanet:284460 Acute annular outer retinopathy -Orphanet:86849 Acute basophilic leukemia -Orphanet:529799 Acute bilirubin encephalopathy -Orphanet:83597 Acute disseminated encephalomyelitis -Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies -Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies -Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion -Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus -Orphanet:279888 Acute endophthalmitis -Orphanet:318 Acute erythroid leukemia -Orphanet:243367 Acute fatty liver of pregnancy -Orphanet:623801 Acute flaccid myelitis -Orphanet:293173 Acute generalized exanthematous pustulosis -Orphanet:99920 Acute graft versus host disease -Orphanet:95157 Acute hepatic porphyria -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins -Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome -Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome -Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy -Orphanet:79276 Acute intermittent porphyria -Orphanet:79126 Acute interstitial pneumonia -Orphanet:90062 Acute liver failure -Orphanet:178320 Acute lung injury -Orphanet:488239 Acute macular neuroretinopathy -Orphanet:566393 Acute mast cell leukemia -Orphanet:518 Acute megakaryoblastic leukemia -Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome -Orphanet:514 Acute monoblastic/monocytic leukemia -Orphanet:98917 Acute motor and sensory axonal neuropathy -Orphanet:98918 Acute motor axonal neuropathy -Orphanet:98834 Acute myeloblastic leukemia with maturation -Orphanet:98833 Acute myeloblastic leukemia without maturation -Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features -Orphanet:102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent -Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation -Orphanet:102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor -Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities -Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations -Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations -Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) -Orphanet:402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) -Orphanet:98832 Acute myeloid leukemia with minimal differentiation -Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) -Orphanet:370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation -Orphanet:102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation -Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) -Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) -Orphanet:517 Acute myelomonocytic leukemia -Orphanet:263524 Acute necrotizing encephalopathy of childhood -Orphanet:247546 Acute neonatal citrullinemia type I -Orphanet:35889 Acute opioid intoxication -Orphanet:231457 Acute pandysautonomia -Orphanet:86843 Acute panmyelosis with myelofibrosis -Orphanet:43119 Acute poisoning by drugs with membrane-stabilizing effect -Orphanet:520 Acute promyelocytic leukemia -Orphanet:231450 Acute pure sensory neuropathy -Orphanet:454831 Acute radiation syndrome -Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate -Orphanet:231466 Acute sensory ataxic neuropathy -Orphanet:139417 Acute transverse myelitis -Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies -Orphanet:43117 Acute tricyclic antidepressant poisoning -Orphanet:98835 Acute undifferentiated leukemia -Orphanet:284454 Acute zonal occult outer retinopathy -Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency -Orphanet:309120 Acyl-CoA dehydrogenase deficiency -Orphanet:55881 Adamantinoma -Orphanet:974 Adams-Oliver syndrome -Orphanet:85138 Addison disease -Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type -Orphanet:976 Adenine phosphoribosyltransferase deficiency -Orphanet:213504 Adenocarcinoma of ovary -Orphanet:424016 Adenocarcinoma of the anal canal -Orphanet:213772 Adenocarcinoma of the cervix uteri -Orphanet:99976 Adenocarcinoma of the esophagus -Orphanet:424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract -Orphanet:424943 Adenocarcinoma of the liver and intrahepatic biliary tract -Orphanet:398053 Adenocarcinoma of the penis -Orphanet:104075 Adenocarcinoma of the small intestine -Orphanet:95512 Adenohypophysitis -Orphanet:213828 Adenoid basal carcinoma of the cervix uteri -Orphanet:213823 Adenoid cystic carcinoma of the cervix uteri -Orphanet:93292 Adenoma of pancreas -Orphanet:213792 Adenosarcoma of the cervix uteri -Orphanet:213600 Adenosarcoma of the corpus uteri -Orphanet:45 Adenosine monophosphate deaminase deficiency -Orphanet:46 Adenylosuccinate lyase deficiency -Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy -Orphanet:645626 Adermatopathic dermatomyositis -Orphanet:36397 Adiposis dolorosa -Orphanet:98260 Adolescent-onset epilepsy syndrome +Orphanet:658540 16q22 deletion syndrome +Orphanet:656279 1p36.33 duplication syndrome Orphanet:647758 Adrenal Cushing syndrome -Orphanet:595337 Adrenal hypoplasia congenita -Orphanet:100091 Adrenal/paraganglial tumor -Orphanet:1501 Adrenocortical carcinoma -Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion -Orphanet:181412 Adrenogenital syndrome -Orphanet:139399 Adrenomyeloneuropathy -Orphanet:977 Adrenomyodystrophy -Orphanet:206448 Adult Krabbe disease -Orphanet:86875 Adult T-cell leukemia/lymphoma -Orphanet:70578 Adult acute respiratory distress syndrome -Orphanet:2666 Adult familial nephronophthisis-spastic quadriparesia syndrome -Orphanet:210159 Adult hepatocellular carcinoma -Orphanet:247676 Adult hypophosphatasia -Orphanet:2688 Adult idiopathic neutropenia -Orphanet:178487 Adult intestinal botulism -Orphanet:79262 Adult neuronal ceroid lipofuscinosis -Orphanet:206583 Adult polyglucosan body disease -Orphanet:589830 Adult-onset Steinert myotonic dystrophy -Orphanet:829 Adult-onset Still disease -Orphanet:99027 Adult-onset autosomal dominant leukodystrophy -Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia -Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia -Orphanet:420492 Adult-onset cervical dystonia, DYT23 type -Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -Orphanet:329478 Adult-onset distal myopathy due to VCP mutation -Orphanet:199351 Adult-onset dystonia-parkinsonism -Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy -Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies -Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency -Orphanet:391490 Adult-onset myasthenia gravis -Orphanet:171442 Adult-onset nemaline myopathy -Orphanet:101334 African tick typhus -Orphanet:3385 African trypanosomiasis -Orphanet:183669 Agammaglobulinemia -Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome -Orphanet:99114 Agenesis of the superior vena cava -Orphanet:364817 Aggrecan-related bone disorder -Orphanet:86873 Aggressive NK-cell leukemia -Orphanet:98850 Aggressive systemic mastocytosis -Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome -Orphanet:50 Aicardi syndrome -Orphanet:51 Aicardi-Goutières syndrome -Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome -Orphanet:52 Alagille syndrome -Orphanet:261600 Alagille syndrome due to 20p12 microdeletion -Orphanet:261619 Alagille syndrome due to a JAG1 point mutation -Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation -Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome -Orphanet:319671 Alazami syndrome -Orphanet:53 Albers-Schönberg osteopetrosis -Orphanet:998 Albinism-deafness syndrome -Orphanet:58 Alexander disease -Orphanet:363717 Alexander disease type I -Orphanet:363722 Alexander disease type II -Orphanet:502444 Alkaline ceramidase 3 deficiency -Orphanet:56 Alkaptonuria -Orphanet:59 Allan-Herndon-Dudley syndrome -Orphanet:1164 Allergic bronchopulmonary aspergillosis -Orphanet:93925 Alobar holoprosencephaly -Orphanet:79364 Alopecia -Orphanet:1006 Alopecia antibody deficiency -Orphanet:700 Alopecia totalis -Orphanet:701 Alopecia universalis -Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome -Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome -Orphanet:2850 Alopecia-intellectual disability syndrome -Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome -Orphanet:726 Alpers-Huttenlocher syndrome -Orphanet:734 Alpha delta granule deficiency -Orphanet:98455 Alpha granule disease -Orphanet:60 Alpha-1-antitrypsin deficiency -Orphanet:399058 Alpha-B crystallin-related late-onset myopathy -Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency -Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 -Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 -Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 -Orphanet:98910 Alpha-crystallinopathy -Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 -Orphanet:100025 Alpha-heavy chain disease -Orphanet:61 Alpha-mannosidosis -Orphanet:309288 Alpha-mannosidosis, adult form -Orphanet:309282 Alpha-mannosidosis, infantile form -Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 -Orphanet:846 Alpha-thalassemia -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome -Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 -Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome -Orphanet:63 Alport syndrome -Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome -Orphanet:64 Alström syndrome -Orphanet:209978 Alternating hemiplegia -Orphanet:2131 Alternating hemiplegia of childhood -Orphanet:284 Alveolar echinococcosis -Orphanet:99756 Alveolar rhabdomyosarcoma -Orphanet:163699 Alveolar soft tissue sarcoma -Orphanet:1021 Amaurosis-hypertrichosis syndrome -Orphanet:294925 Amelia -Orphanet:294969 Amelia of lower limb -Orphanet:294967 Amelia of upper limb -Orphanet:1028 Amelo-onycho-hypohidrotic syndrome -Orphanet:314422 Ameloblastic carcinoma -Orphanet:314419 Ameloblastoma -Orphanet:1946 Amelocerebrohypohidrotic syndrome -Orphanet:88661 Amelogenesis imperfecta -Orphanet:3386 American trypanosomiasis -Orphanet:225689 Amino acid or protein metabolism disease with epilepsy -Orphanet:308448 Aminoacylase deficiency -Orphanet:1908 Aminopterin/methotrexate embryofetopathy -Orphanet:99742 Amish lethal microcephaly -Orphanet:98902 Amish nemaline myopathy -Orphanet:617304 Amniotic fluid embolism -Orphanet:67 Amoebiasis due to Entamoeba histolytica -Orphanet:68 Amoebiasis due to free-living amoebae -Orphanet:67043 Amoebic keratitis -Orphanet:319635 Amyloidosis cutis dyschromia -Orphanet:645617 Amyopathic dermatomyositis -Orphanet:803 Amyotrophic lateral sclerosis -Orphanet:357043 Amyotrophic lateral sclerosis type 4 -Orphanet:228113 Anal fistula -Orphanet:251589 Anaplastic astrocytoma -Orphanet:251646 Anaplastic ependymoma -Orphanet:251957 Anaplastic ganglioglioma -Orphanet:98841 Anaplastic large cell lymphoma -Orphanet:251663 Anaplastic oligoastrocytoma -Orphanet:251630 Anaplastic oligodendroglioma -Orphanet:142 Anaplastic thyroid carcinoma -Orphanet:251855 Anaplastic/large cell medulloblastoma -Orphanet:93347 Anauxetic dysplasia -Orphanet:37553 Andersen-Tawil syndrome -Orphanet:754 Androgen insensitivity syndrome -Orphanet:1054 Aneurysm of sinus of Valsalva -Orphanet:284984 Aneurysm-osteoarthritis syndrome -Orphanet:480553 Aneurysmal bone cyst -Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia -Orphanet:72 Angelman syndrome -Orphanet:411511 Angelman syndrome due to a point mutation -Orphanet:411515 Angelman syndrome due to imprinting defect in 15q11-q13 -Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion -Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 -Orphanet:251671 Angiocentric glioma -Orphanet:86886 Angioimmunoblastic T-cell lymphoma -Orphanet:95429 Angioma serpiginosum -Orphanet:569164 Angiomatoid fibrous histiocytoma -Orphanet:2346 Angioosteohypertrophic syndrome -Orphanet:75508 Angioosteohypotrophic syndrome -Orphanet:263413 Angiosarcoma -Orphanet:74 Angiostrongyliasis -Orphanet:370039 Angora hair nevus -Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome -Orphanet:1069 Aniridia-absent patella syndrome -Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome -Orphanet:1068 Aniridia-intellectual disability syndrome -Orphanet:1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome -Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome -Orphanet:1070 Anisakiasis -Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome -Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome -Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis -Orphanet:78 Ankylostomiasis -Orphanet:254411 Annular atrophic lichen planus -Orphanet:281139 Annular epidermolytic ichthyosis -Orphanet:254424 Annular lichen planus -Orphanet:675 Annular pancreas -Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 -Orphanet:99797 Anodontia -Orphanet:541478 Anomalous aortic origin of coronary artery -Orphanet:541443 Anomalous aortic origin of the left coronary artery -Orphanet:541454 Anomalous aortic origin of the right coronary artery -Orphanet:541507 Anomalous origin of coronary artery from the pulmonary artery -Orphanet:180208 Anomaly of puberty or/and menstrual cycle -Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin -Orphanet:542822 Anomaly of the coronary ostia +Orphanet:652532 Adult-onset progressive leukoencephalopathy-early-onset deafness Orphanet:645282 Anomaly of the filum -Orphanet:101932 Anomaly of the mitral subvalvular apparatus -Orphanet:95463 Anomaly of the tricuspid subvalvular apparatus -Orphanet:94150 Anonychia congenita totalis -Orphanet:69125 Anonychia with flexural pigmentation -Orphanet:1094 Anonychia-microcephaly syndrome -Orphanet:90390 Anonychia-onychodystrophy syndrome -Orphanet:1104 Anophthalmia plus syndrome -Orphanet:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome -Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome -Orphanet:93976 Anotia -Orphanet:2987 Antecubital pterygium syndrome -Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita -Orphanet:51890 Anterior cutaneous nerve entrapment syndrome -Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome -Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations -Orphanet:88632 Anterior segment developmental anomaly -Orphanet:98634 Anterior segment developmental anomaly without extraocular manifestations -Orphanet:435372 Anterior urethral valve -Orphanet:280886 Anterior uveitis -Orphanet:2194 Anti-HLA hyperimmunization -Orphanet:375 Anti-glomerular basement membrane disease -Orphanet:454710 Anti-p200 pemphigoid -Orphanet:80 Antiphospholipid syndrome -Orphanet:81 Antisynthetase syndrome -Orphanet:83 Antley-Bixler syndrome -Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis -Orphanet:596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis -Orphanet:1457 Aorta coarctation -Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome -Orphanet:1132 Aortic arch defects -Orphanet:2299 Aortic arch interruption -Orphanet:98718 Aortic malformation -Orphanet:99071 Aorto-left ventricular tunnel -Orphanet:99070 Aorto-right ventricular tunnel -Orphanet:3400 Aorto-ventricular tunnel -Orphanet:87 Apert syndrome -Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome -Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome -Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome -Orphanet:1114 Aplasia cutis congenita -Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome -Orphanet:1117 Aplasia cutis-myopia syndrome -Orphanet:86815 Aplasia of lacrimal and salivary glands -Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome -Orphanet:99981 Apnea of prematurity -Orphanet:294986 Apodia -Orphanet:425 Apolipoprotein A-I deficiency -Orphanet:320 Apparent mineralocorticoid excess -Orphanet:566857 Aprosencephaly -Orphanet:1126 Aprosencephaly cerebellar dysgenesis -Orphanet:566847 Aprosencephaly/atelencephaly spectrum -Orphanet:498359 Aquagenic palmoplantar keratoderma -Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome -Orphanet:1130 Arachnodactyly-intellectual disability-dysmorphism syndrome -Orphanet:2356 Arachnoid cyst -Orphanet:137817 Arachnoiditis -Orphanet:344 Arbovirus fever -Orphanet:101096 Aregenerative anemia -Orphanet:319223 Argentine hemorrhagic fever -Orphanet:90 Argininemia -Orphanet:23 Argininosuccinic aciduria -Orphanet:60014 Argyria -Orphanet:268882 Arnold-Chiari malformation type I -Orphanet:91 Aromatase deficiency -Orphanet:178345 Aromatase excess syndrome -Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency -Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome -Orphanet:1682 Arterial dissection-lentiginosis syndrome -Orphanet:95485 Arterial duct anomaly -Orphanet:357107 Arterial thoracic outlet syndrome -Orphanet:3342 Arterial tortuosity syndrome -Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome -Orphanet:1037 Arthrogryposis multiplex congenita -Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome -Orphanet:109007 Arthrogryposis syndrome -Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome -Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome -Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form -Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome -Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome -Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome -Orphanet:65720 Arthrogryposis-severe scoliosis syndrome -Orphanet:2302 Asbestos intoxication -Orphanet:98725 Ascending aorta anomaly -Orphanet:1253 Ascher syndrome -Orphanet:137686 Asherman syndrome -Orphanet:93 Aspartylglucosaminuria -Orphanet:1163 Aspergillosis -Orphanet:85175 Astley-Kendall dysplasia -Orphanet:251679 Astroblastoma -Orphanet:94 Astrocytoma -Orphanet:254818 Ataxia neuropathy spectrum -Orphanet:98538 Ataxia with dementia -Orphanet:96 Ataxia with vitamin E deficiency -Orphanet:1188 Ataxia-deafness-intellectual disability syndrome -Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome -Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome -Orphanet:1168 Ataxia-oculomotor apraxia type 1 -Orphanet:459033 Ataxia-oculomotor apraxia type 4 -Orphanet:2585 Ataxia-pancytopenia syndrome -Orphanet:1184 Ataxia-photosensitivity-short stature syndrome -Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome -Orphanet:100 Ataxia-telangiectasia -Orphanet:370109 Ataxia-telangiectasia variant -Orphanet:251347 Ataxia-telangiectasia-like disorder -Orphanet:566852 Atelencephaly -Orphanet:1190 Atelosteogenesis type I -Orphanet:56304 Atelosteogenesis type II -Orphanet:56305 Atelosteogenesis type III -Orphanet:69739 Athabaskan brainstem dysgenesis syndrome -Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome -Orphanet:95713 Athyreosis -Orphanet:1193 Atkin-Flaitz syndrome -Orphanet:163934 Atopic keratoconjunctivitis -Orphanet:105 Atresia of urethra -Orphanet:95510 Atrial appendage anomaly -Orphanet:99107 Atrial septal aneurysm -Orphanet:99104 Atrial septal defect, coronary sinus type -Orphanet:99106 Atrial septal defect, ostium primum type -Orphanet:99103 Atrial septal defect, ostium secundum type -Orphanet:99105 Atrial septal defect, sinus venosus type -Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome -Orphanet:1344 Atrial standstill -Orphanet:86819 Atrichia with papular lesions -Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome -Orphanet:98722 Atrioventricular septal defect -Orphanet:98720 Atrioventricular valve anomaly -Orphanet:254449 Atrophic lichen planus -Orphanet:79100 Atrophoderma vermiculata -Orphanet:352723 Attenuated Chédiak-Higashi syndrome -Orphanet:220460 Attenuated familial adenomatous polyposis -Orphanet:544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome -Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency -Orphanet:314466 Atypical Meigs syndrome -Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion -Orphanet:3095 Atypical Rett syndrome -Orphanet:595109 Atypical Timothy syndrome -Orphanet:79474 Atypical Werner syndrome -Orphanet:199627 Atypical autism -Orphanet:98824 Atypical chronic myeloid leukemia -Orphanet:1456 Atypical coarctation of aorta -Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency -Orphanet:289863 Atypical glycine encephalopathy -Orphanet:2134 Atypical hemolytic uremic syndrome -Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies -Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality -Orphanet:238523 Atypical hypotonia-cystinuria syndrome -Orphanet:391411 Atypical juvenile parkinsonism -Orphanet:86797 Atypical lichen myxedematosus -Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration -Orphanet:251902 Atypical papilloma of choroid plexus -Orphanet:99750 Atypical progressive supranuclear palsy syndrome -Orphanet:99966 Atypical teratoid rhabdoid tumor -Orphanet:166415 Audiogenic seizures -Orphanet:542585 Auditory neuropathy-optic atrophy syndrome -Orphanet:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome -Orphanet:137888 Auriculocondylar syndrome -Orphanet:114 Auriculoosteodysplasia -Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency -Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome -Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency -Orphanet:324636 Autoerythrocyte sensitization syndrome -Orphanet:79669 Autoimmune bullous skin disease -Orphanet:315350 Autoimmune disease with skin involvement -Orphanet:622014 Autoimmune encephalitis -Orphanet:420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome -Orphanet:98375 Autoimmune hemolytic anemia -Orphanet:228312 Autoimmune hemolytic anemia, cold type -Orphanet:90033 Autoimmune hemolytic anemia, warm type -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome -Orphanet:2137 Autoimmune hepatitis -Orphanet:563576 Autoimmune hepatitis type 1 -Orphanet:563581 Autoimmune hepatitis type 2 -Orphanet:36913 Autoimmune hypoparathyroidism -Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome -Orphanet:623615 Autoimmune limbic encephalitis -Orphanet:3261 Autoimmune lymphoproliferative syndrome -Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections -Orphanet:98750 Autoimmune neurological channelopathy -Orphanet:103919 Autoimmune pancreatitis -Orphanet:280302 Autoimmune pancreatitis type 1 -Orphanet:280315 Autoimmune pancreatitis type 2 -Orphanet:282196 Autoimmune polyendocrinopathy -Orphanet:3453 Autoimmune polyendocrinopathy type 1 -Orphanet:3143 Autoimmune polyendocrinopathy type 2 -Orphanet:227982 Autoimmune polyendocrinopathy type 3 -Orphanet:227990 Autoimmune polyendocrinopathy type 4 -Orphanet:747 Autoimmune pulmonary alveolar proteinosis -Orphanet:71203 Autoimmune thrombocytopenia -Orphanet:499047 Autoimmune/inflammatory optic neuropathy -Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation -Orphanet:93665 Autoinflammatory syndrome -Orphanet:319719 Autoinflammatory syndrome of childhood -Orphanet:290839 Autoinflammatory syndrome with immune deficiency -Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis -Orphanet:290842 Autoinflammatory syndrome with skin involvement -Orphanet:33110 Autosomal agammaglobulinemia -Orphanet:98127 Autosomal anomaly -Orphanet:88918 Autosomal dominant Alport syndrome -Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 -Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation -Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation -Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation -Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons -Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 -Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 -Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B -Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C -Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D -Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD -Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E -Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F -Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G -Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I -Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J -Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K -Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L -Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M -Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N -Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O -Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q -Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U -Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V -Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W -Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y -Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z -Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy -Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome -Orphanet:3107 Autosomal dominant Robinow syndrome -Orphanet:209335 Autosomal dominant adult-onset proximal spinal muscular atrophy -Orphanet:314399 Autosomal dominant aplasia and myelodysplasia -Orphanet:93304 Autosomal dominant brachyolmia -Orphanet:169189 Autosomal dominant centronuclear myopathy -Orphanet:99 Autosomal dominant cerebellar ataxia -Orphanet:94145 Autosomal dominant cerebellar ataxia type I -Orphanet:208508 Autosomal dominant cerebellar ataxia type II -Orphanet:94148 Autosomal dominant cerebellar ataxia type III -Orphanet:94149 Autosomal dominant cerebellar ataxia type IV -Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome -Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy -Orphanet:1455 Autosomal dominant coarctation of aorta -Orphanet:100979 Autosomal dominant complex spastic paraplegia -Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy -Orphanet:90348 Autosomal dominant cutis laxa -Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome -Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma -Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature -Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature -Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome -Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy -Orphanet:206650 Autosomal dominant distal myopathy -Orphanet:93608 Autosomal dominant distal renal tubular acidosis -Orphanet:98808 Autosomal dominant dopa-responsive dystonia -Orphanet:312 Autosomal dominant epidermolytic ichthyosis -Orphanet:101046 Autosomal dominant epilepsy with auditory features -Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type -Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering -Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa -Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form -Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form -Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy -Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy -Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy -Orphanet:2314 Autosomal dominant hyper-IgE syndrome -Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency -Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency -Orphanet:428 Autosomal dominant hypocalcemia -Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia -Orphanet:89937 Autosomal dominant hypophosphatemic rickets -Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome -Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation -Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease -Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A -Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B -Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C -Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D -Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E -Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F -Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain -Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma -Orphanet:2334 Autosomal dominant keratitis -Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy -Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A -Orphanet:140957 Autosomal dominant macrothrombocytopenia -Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency -Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -Orphanet:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance -Orphanet:65743 Autosomal dominant multiple pterygium syndrome -Orphanet:99846 Autosomal dominant myoglobinuria -Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome -Orphanet:636965 Autosomal dominant myosin storage myopathy -Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy -Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy -Orphanet:178469 Autosomal dominant non-syndromic intellectual disability -Orphanet:93328 Autosomal dominant omodysplasia -Orphanet:98672 Autosomal dominant optic atrophy -Orphanet:67036 Autosomal dominant optic atrophy and cataract -Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy -Orphanet:1215 Autosomal dominant optic atrophy plus syndrome -Orphanet:98673 Autosomal dominant optic atrophy, classic form -Orphanet:2783 Autosomal dominant osteopetrosis type 1 -Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia -Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia -Orphanet:730 Autosomal dominant polycystic kidney disease -Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis -Orphanet:1300 Autosomal dominant popliteal pterygium syndrome -Orphanet:476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome -Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria -Orphanet:2514 Autosomal dominant primary microcephaly -Orphanet:2964 Autosomal dominant prognathism -Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia -Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension -Orphanet:314889 Autosomal dominant proximal renal tubular acidosis -Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy -Orphanet:100980 Autosomal dominant pure spastic paraplegia -Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment -Orphanet:247511 Autosomal dominant secondary polycythemia -Orphanet:486 Autosomal dominant severe congenital neutropenia -Orphanet:140481 Autosomal dominant slowed nerve conduction velocity -Orphanet:316235 Autosomal dominant spastic ataxia -Orphanet:251282 Autosomal dominant spastic ataxia type 1 -Orphanet:100991 Autosomal dominant spastic paraplegia type 10 -Orphanet:100993 Autosomal dominant spastic paraplegia type 12 -Orphanet:100994 Autosomal dominant spastic paraplegia type 13 -Orphanet:100998 Autosomal dominant spastic paraplegia type 17 -Orphanet:100999 Autosomal dominant spastic paraplegia type 19 -Orphanet:101009 Autosomal dominant spastic paraplegia type 29 -Orphanet:100984 Autosomal dominant spastic paraplegia type 3 -Orphanet:101011 Autosomal dominant spastic paraplegia type 31 -Orphanet:320365 Autosomal dominant spastic paraplegia type 36 -Orphanet:171612 Autosomal dominant spastic paraplegia type 37 -Orphanet:171617 Autosomal dominant spastic paraplegia type 38 -Orphanet:100985 Autosomal dominant spastic paraplegia type 4 -Orphanet:320355 Autosomal dominant spastic paraplegia type 41 -Orphanet:171863 Autosomal dominant spastic paraplegia type 42 -Orphanet:100988 Autosomal dominant spastic paraplegia type 6 -Orphanet:444099 Autosomal dominant spastic paraplegia type 73 -Orphanet:100989 Autosomal dominant spastic paraplegia type 8 -Orphanet:631068 Autosomal dominant spastic paraplegia type 80 -Orphanet:447753 Autosomal dominant spastic paraplegia type 9A -Orphanet:447757 Autosomal dominant spastic paraplegia type 9B -Orphanet:1797 Autosomal dominant spondylocostal dysostosis -Orphanet:228169 Autosomal dominant striatal neurodegeneration -Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect -Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease -Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy -Orphanet:79278 Autosomal erythropoietic protoporphyria -Orphanet:281217 Autosomal ichthyosis syndrome -Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course -Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs -Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities -Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs -Orphanet:102020 Autosomal monosomy -Orphanet:88919 Autosomal recessive Alport syndrome -Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X -Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness -Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy -Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome -Orphanet:1507 Autosomal recessive Robinow syndrome -Orphanet:250984 Autosomal recessive Stickler syndrome -Orphanet:1027 Autosomal recessive amelia -Orphanet:519388 Autosomal recessive anterior segment dysgenesis -Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency -Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency -Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency -Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency -Orphanet:88644 Autosomal recessive ataxia, Beauce type -Orphanet:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect -Orphanet:91024 Autosomal recessive axonal hereditary motor and sensory neuropathy -Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia -Orphanet:139455 Autosomal recessive bestrophinopathy -Orphanet:448242 Autosomal recessive brachyolmia -Orphanet:169186 Autosomal recessive centronuclear myopathy -Orphanet:1172 Autosomal recessive cerebellar ataxia -Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency -Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency -Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect -Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity -Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome -Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency -Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency -Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency -Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome -Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome -Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome -Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 -Orphanet:363969 Autosomal recessive cerebral atrophy -Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome -Orphanet:100981 Autosomal recessive complex spastic paraplegia -Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction -Orphanet:98095 Autosomal recessive congenital cerebellar ataxia -Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency -Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency -Orphanet:281097 Autosomal recessive congenital ichthyosis -Orphanet:90349 Autosomal recessive cutis laxa type 1 -Orphanet:90350 Autosomal recessive cutis laxa type 2 -Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type -Orphanet:357058 Autosomal recessive cutis laxa type 2A -Orphanet:357064 Autosomal recessive cutis laxa type 2B -Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia -Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature -Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature -Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy -Orphanet:206653 Autosomal recessive distal myopathy -Orphanet:2776 Autosomal recessive distal osteolysis syndrome -Orphanet:402041 Autosomal recessive distal renal tubular acidosis -Orphanet:101150 Autosomal recessive dopa-responsive dystonia -Orphanet:512103 Autosomal recessive epidermolytic ichthyosis -Orphanet:562538 Autosomal recessive extra-oral halitosis -Orphanet:1974 Autosomal recessive faciodigitogenital syndrome -Orphanet:329329 Autosomal recessive frontotemporal pachygyria -Orphanet:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form -Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form -Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex -Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy -Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy -Orphanet:641368 Autosomal recessive hyper-IgE syndrome -Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency -Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency -Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia -Orphanet:289176 Autosomal recessive hypophosphatemic rickets -Orphanet:300547 Autosomal recessive infantile hypercalcemia -Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease -Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A -Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B -Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C -Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D -Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma -Orphanet:98676 Autosomal recessive isolated optic atrophy -Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy -Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome -Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy -Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset -Orphanet:667 Autosomal recessive malignant osteopetrosis -Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency -Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency -Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency -Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency -Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency -Orphanet:574957 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency -Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia -Orphanet:2990 Autosomal recessive multiple pterygium syndrome -Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita -Orphanet:636970 Autosomal recessive myosin storage myopathy -Orphanet:280654 Autosomal recessive nail dysplasia -Orphanet:88616 Autosomal recessive non-syndromic intellectual disability -Orphanet:93329 Autosomal recessive omodysplasia -Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type -Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia -Orphanet:731 Autosomal recessive polycystic kidney disease -Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity -Orphanet:2512 Autosomal recessive primary microcephaly -Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia -Orphanet:93607 Autosomal recessive proximal renal tubular acidosis -Orphanet:100982 Autosomal recessive pure spastic paraplegia -Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene -Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency -Orphanet:420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency -Orphanet:260305 Autosomal recessive sideroblastic anemia -Orphanet:316240 Autosomal recessive spastic ataxia -Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay -Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy -Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome -Orphanet:2822 Autosomal recessive spastic paraplegia type 11 -Orphanet:100995 Autosomal recessive spastic paraplegia type 14 -Orphanet:100996 Autosomal recessive spastic paraplegia type 15 -Orphanet:101000 Autosomal recessive spastic paraplegia type 20 -Orphanet:101001 Autosomal recessive spastic paraplegia type 21 -Orphanet:101003 Autosomal recessive spastic paraplegia type 23 -Orphanet:101004 Autosomal recessive spastic paraplegia type 24 -Orphanet:101005 Autosomal recessive spastic paraplegia type 25 -Orphanet:101006 Autosomal recessive spastic paraplegia type 26 -Orphanet:101007 Autosomal recessive spastic paraplegia type 27 -Orphanet:101008 Autosomal recessive spastic paraplegia type 28 -Orphanet:171622 Autosomal recessive spastic paraplegia type 32 -Orphanet:171629 Autosomal recessive spastic paraplegia type 35 -Orphanet:139480 Autosomal recessive spastic paraplegia type 39 -Orphanet:320370 Autosomal recessive spastic paraplegia type 43 -Orphanet:320401 Autosomal recessive spastic paraplegia type 44 -Orphanet:320396 Autosomal recessive spastic paraplegia type 45 -Orphanet:320391 Autosomal recessive spastic paraplegia type 46 -Orphanet:306511 Autosomal recessive spastic paraplegia type 48 -Orphanet:319199 Autosomal recessive spastic paraplegia type 53 -Orphanet:320380 Autosomal recessive spastic paraplegia type 54 -Orphanet:320375 Autosomal recessive spastic paraplegia type 55 -Orphanet:320411 Autosomal recessive spastic paraplegia type 56 -Orphanet:431329 Autosomal recessive spastic paraplegia type 57 -Orphanet:401795 Autosomal recessive spastic paraplegia type 59 -Orphanet:100986 Autosomal recessive spastic paraplegia type 5A -Orphanet:401800 Autosomal recessive spastic paraplegia type 60 -Orphanet:401780 Autosomal recessive spastic paraplegia type 61 -Orphanet:401785 Autosomal recessive spastic paraplegia type 62 -Orphanet:401805 Autosomal recessive spastic paraplegia type 63 -Orphanet:401810 Autosomal recessive spastic paraplegia type 64 -Orphanet:401815 Autosomal recessive spastic paraplegia type 66 -Orphanet:401820 Autosomal recessive spastic paraplegia type 67 -Orphanet:401830 Autosomal recessive spastic paraplegia type 69 -Orphanet:401835 Autosomal recessive spastic paraplegia type 70 -Orphanet:401840 Autosomal recessive spastic paraplegia type 71 -Orphanet:468661 Autosomal recessive spastic paraplegia type 74 -Orphanet:459056 Autosomal recessive spastic paraplegia type 75 -Orphanet:488594 Autosomal recessive spastic paraplegia type 76 -Orphanet:466722 Autosomal recessive spastic paraplegia type 77 -Orphanet:513436 Autosomal recessive spastic paraplegia type 78 -Orphanet:631073 Autosomal recessive spastic paraplegia type 82 -Orphanet:631076 Autosomal recessive spastic paraplegia type 83 -Orphanet:631079 Autosomal recessive spastic paraplegia type 84 -Orphanet:631082 Autosomal recessive spastic paraplegia type 85 -Orphanet:631085 Autosomal recessive spastic paraplegia type 86 -Orphanet:631088 Autosomal recessive spastic paraplegia type 87 -Orphanet:447760 Autosomal recessive spastic paraplegia type 9B -Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome -Orphanet:2311 Autosomal recessive spondylocostal dysostosis -Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type -Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia -Orphanet:280365 Autosomal semi-dominant severe lipodystrophic laminopathy -Orphanet:209951 Autosomal spastic paraplegia type 18 -Orphanet:101010 Autosomal spastic paraplegia type 30 -Orphanet:397946 Autosomal spastic paraplegia type 58 -Orphanet:401849 Autosomal spastic paraplegia type 72 -Orphanet:300345 Autosomal systemic lupus erythematosus -Orphanet:168629 Autosomal thrombocytopenia with normal platelets -Orphanet:98130 Autosomal trisomy -Orphanet:98152 Autosomal uniparental disomy -Orphanet:399164 Avascular necrosis -Orphanet:399388 Avascular necrosis of genetic origin -Orphanet:454836 Avian influenza -Orphanet:98978 Axenfeld anomaly -Orphanet:782 Axenfeld-Rieger syndrome -Orphanet:1834 Axial mesodermal dysplasia spectrum -Orphanet:168549 Axial spondylometaphyseal dysplasia -Orphanet:476109 Axonal hereditary motor and sensory neuropathy -Orphanet:209004 Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy -Orphanet:1272 Aymé-Gripp syndrome -Orphanet:99121 Azygos continuation of the inferior vena cava -Orphanet:67038 B-cell chronic lymphocytic leukemia -Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome -Orphanet:86852 B-cell prolymphocytic leukemia -Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy -Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy -Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality -Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) -Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) -Orphanet:585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) -Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) -Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) -Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) -Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) -Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome -Orphanet:79332 B4GALT1-CDG -Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome -Orphanet:289539 BAP1-related tumor predisposition syndrome -Orphanet:464336 BENTA disease -Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy -Orphanet:217266 BNAR syndrome -Orphanet:107 BOR syndrome -Orphanet:85284 BRESEK syndrome -Orphanet:476084 BVES-related limb-girdle muscular dystrophy -Orphanet:108 Babesiosis -Orphanet:206994 Bacterial myositis -Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency -Orphanet:36234 Bacterial toxic-shock syndrome -Orphanet:352577 Bainbridge-Ropers syndrome -Orphanet:1223 Balantidiasis -Orphanet:363746 Balint syndrome -Orphanet:1225 Baller-Gerold syndrome -Orphanet:228165 Baló concentric sclerosis -Orphanet:1226 Bamforth-Lazarus syndrome -Orphanet:1227 Bangstad syndrome -Orphanet:1228 Banki syndrome -Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome -Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome -Orphanet:1231 Barber-Say syndrome -Orphanet:110 Bardet-Biedl syndrome -Orphanet:443084 Baroreflex failure -Orphanet:111 Barth syndrome -Orphanet:1234 Bartsocas-Papas syndrome -Orphanet:112 Bartter syndrome -Orphanet:620217 Bartter syndrome type 1 -Orphanet:620220 Bartter syndrome type 2 -Orphanet:93605 Bartter syndrome type 3 -Orphanet:89938 Bartter syndrome type 4 -Orphanet:570371 Bartter syndrome type 5 -Orphanet:268829 Basal encephalocele -Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome -Orphanet:100976 Bathing suit ichthyosis -Orphanet:166113 Bazex syndrome -Orphanet:113 Bazex-Dupré-Christol syndrome -Orphanet:98895 Becker muscular dystrophy -Orphanet:64755 Becker nevus syndrome -Orphanet:116 Beckwith-Wiedemann syndrome -Orphanet:231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion -Orphanet:96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication -Orphanet:231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion -Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation -Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation -Orphanet:231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 -Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 -Orphanet:1237 Beemer-Ertbruggen syndrome -Orphanet:275864 Behavioral variant of frontotemporal dementia -Orphanet:117 Behçet disease -Orphanet:1241 Bencze syndrome -Orphanet:324581 Benign Samaritan congenital myopathy -Orphanet:86814 Benign adult familial myoclonic epilepsy -Orphanet:157997 Benign cephalic histiocytosis -Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type -Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type -Orphanet:251287 Benign concentric annular macular dystrophy -Orphanet:276148 Benign epithelial tumor of salivary glands -Orphanet:306 Benign familial infantile epilepsy -Orphanet:163717 Benign familial mesial temporal lobe epilepsy -Orphanet:1949 Benign familial neonatal epilepsy -Orphanet:140927 Benign familial neonatal-infantile seizures -Orphanet:1544 Benign focal seizures of adolescence -Orphanet:1429 Benign hereditary chorea -Orphanet:64545 Benign idiopathic neonatal seizures -Orphanet:166308 Benign infantile focal epilepsy with midline spikes and waves during sleep -Orphanet:166305 Benign infantile seizures associated with mild gastroenteritis -Orphanet:464359 Benign metanephric tumor -Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood -Orphanet:166295 Benign non-familial infantile seizures -Orphanet:25968 Benign occipital epilepsy -Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia -Orphanet:71518 Benign paroxysmal torticollis of infancy -Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures -Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy -Orphanet:166311 Benign partial infantile seizures -Orphanet:252131 Benign peripheral nerve sheath tumor -Orphanet:65682 Benign recurrent intrahepatic cholestasis -Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 -Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 -Orphanet:252164 Benign schwannoma -Orphanet:180237 Benign tumor of fallopian tubes -Orphanet:274 Bernard-Soulier syndrome -Orphanet:1243 Best vitelliform macular dystrophy -Orphanet:134 Beta-ketothiolase deficiency -Orphanet:118 Beta-mannosidosis -Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria -Orphanet:329284 Beta-propeller protein-associated neurodegeneration -Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 -Orphanet:848 Beta-thalassemia -Orphanet:231222 Beta-thalassemia intermedia -Orphanet:231214 Beta-thalassemia major -Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome -Orphanet:65287 Beta-ureidopropionase deficiency -Orphanet:610 Bethlem myopathy -Orphanet:180106 Bicervical bicornuate uterus and blind hemivagina -Orphanet:180111 Bicervical bicornuate uterus with patent cervix and vagina -Orphanet:79138 Bickerstaff brainstem encephalitis -Orphanet:141333 Biemond syndrome type 2 -Orphanet:41751 Bietti crystalline dystrophy -Orphanet:2695 Bifid nose -Orphanet:99771 Bifid uvula -Orphanet:300 Bifunctional enzyme deficiency -Orphanet:69736 Bilateral acute depigmentation of the iris -Orphanet:208444 Bilateral frontal polymicrogyria -Orphanet:101070 Bilateral frontoparietal polymicrogyria -Orphanet:208447 Bilateral generalized polymicrogyria -Orphanet:319205 Bilateral massive adrenal hemorrhage -Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome -Orphanet:97364 Bilateral multicystic dysplastic kidney -Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria -Orphanet:98889 Bilateral perisylvian polymicrogyria -Orphanet:268940 Bilateral polymicrogyria -Orphanet:1980 Bilateral striopallidodentate calcinosis -Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation -Orphanet:498345 Biliary atresia and associated disorders -Orphanet:244283 Biliary atresia with splenic malformation syndrome -Orphanet:424982 Biliary cystadenocarcinoma -Orphanet:415286 Bilirubin encephalopathy -Orphanet:447874 Biological anomaly without phenotypic characterization -Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease -Orphanet:79241 Biotinidase deficiency -Orphanet:364198 Bipartite talus -Orphanet:179 Birdshot chorioretinopathy -Orphanet:122 Birt-Hogg-Dubé syndrome -Orphanet:123 Björnstad syndrome -Orphanet:93930 Bladder exstrophy -Orphanet:98922 Blake pouch cyst -Orphanet:86870 Blastic plasmacytoid dendritic cell neoplasm -Orphanet:90340 Blau syndrome -Orphanet:73271 Bleeding diathesis due to a collagen receptor defect -Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency -Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency -Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency -Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency -Orphanet:36355 Bleeding disorder due to P2Y12 defect -Orphanet:177926 Bleeding disorder in hemophilia A carriers -Orphanet:177929 Bleeding disorder in hemophilia B carriers -Orphanet:1997 Blepharo-cheilo-odontic syndrome -Orphanet:1252 Blepharonasofacial malformation syndrome -Orphanet:293642 Blepharophimosis-intellectual disability syndrome -Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type -Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type -Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type -Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type -Orphanet:597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome -Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome -Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus -Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 -Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 -Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome -Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome -Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome -Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome -Orphanet:50945 Blomstrand lethal chondrodysplasia -Orphanet:125 Bloom syndrome -Orphanet:2768 Blount disease -Orphanet:16 Blue cone monochromatism -Orphanet:94086 Blue diaper syndrome -Orphanet:1059 Blue rubber bleb nevus -Orphanet:217008 Bockenheimer syndrome -Orphanet:623789 Body integrity dysphoria -Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency -Orphanet:97297 Bohring-Opitz syndrome -Orphanet:319229 Bolivian hemorrhagic fever -Orphanet:1842 Bone dysplasia, lethal Holmgren type -Orphanet:223727 Bone sarcoma -Orphanet:1261 Bonnemann-Meinecke-Reich syndrome -Orphanet:1263 Boomerang dysplasia -Orphanet:127 Borjeson-Forssman-Lehmann syndrome -Orphanet:637051 Borna virus encephalitis -Orphanet:69737 Bosley-Salih-Alorainy syndrome -Orphanet:85128 Bothnia retinal dystrophy -Orphanet:1267 Botulism -Orphanet:83313 Boutonneuse fever -Orphanet:1270 Bowen-Conradi syndrome -Orphanet:2619 Brachydactylous dwarfism, Mseleni type -Orphanet:93388 Brachydactyly type A1 -Orphanet:93396 Brachydactyly type A2 -Orphanet:93394 Brachydactyly type A4 -Orphanet:93382 Brachydactyly type A6 -Orphanet:93397 Brachydactyly type A7 -Orphanet:93383 Brachydactyly type B -Orphanet:572385 Brachydactyly type B1 -Orphanet:140908 Brachydactyly type B2 -Orphanet:93384 Brachydactyly type C -Orphanet:93387 Brachydactyly type E -Orphanet:1276 Brachydactyly-arterial hypertension syndrome -Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome -Orphanet:2946 Brachydactyly-long thumb syndrome -Orphanet:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome -Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome -Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome -Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome -Orphanet:93409 Brachydactyly-syndactyly, Zhao type -Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome -Orphanet:1293 Brachyolmia -Orphanet:93302 Brachyolmia, Maroteaux type -Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome -Orphanet:79345 Brachytelephalangic chondrodysplasia punctata -Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome -Orphanet:52047 Braddock syndrome -Orphanet:75374 Bradyopsia -Orphanet:178506 Brain calcification, Rajab type -Orphanet:352649 Brain dopamine-serotonin vesicular transport disease -Orphanet:102005 Brain inflammatory disease -Orphanet:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome -Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome -Orphanet:209905 Brain-lung-thyroid syndrome -Orphanet:139036 Branchial arch or oral-acral syndrome -Orphanet:1297 Branchio-oculo-facial syndrome -Orphanet:50815 Branchiogenic deafness syndrome -Orphanet:52429 Branchiootic syndrome -Orphanet:1299 Branchioskeletogenital syndrome -Orphanet:319239 Brazilian hemorrhagic fever -Orphanet:99990 Brill-Zinsser disease -Orphanet:90354 Brittle cornea syndrome -Orphanet:53347 Brody myopathy +Orphanet:656071 Atrophic papulosis +Orphanet:658810 Atrophoderma of Pasini and Pierini +Orphanet:653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa +Orphanet:656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency +Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency +Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency +Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency +Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency +Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 +Orphanet:656085 Benign atrophic papulosis Orphanet:649014 Bronchial malformation -Orphanet:97287 Bronchial neuroendocrine tumor -Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease -Orphanet:2357 Bronchogenic cyst -Orphanet:70589 Bronchopulmonary dysplasia -Orphanet:79493 Brooke-Spiegler syndrome -Orphanet:1304 Brucellosis -Orphanet:2771 Bruck syndrome -Orphanet:130 Brugada syndrome -Orphanet:131 Budd-Chiari syndrome -Orphanet:36258 Buerger disease -Orphanet:206701 Bulbospinal muscular atrophy -Orphanet:206707 Bulbospinal muscular atrophy of adult -Orphanet:206704 Bulbospinal muscular atrophy of childhood -Orphanet:280785 Bullous diffuse cutaneous mastocytosis -Orphanet:36237 Bullous impetigo -Orphanet:33408 Bullous lichen planus -Orphanet:703 Bullous pemphigoid -Orphanet:538869 Bullous pyoderma gangrenosum -Orphanet:543 Burkitt lymphoma -Orphanet:1200 Burn-McKeown syndrome -Orphanet:353253 Burning mouth syndrome -Orphanet:99001 Butterfly-shaped pigment dystrophy -Orphanet:132 Butyrylcholinesterase deficiency -Orphanet:1262 Böök syndrome -Orphanet:1308 C syndrome -Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy -Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect -Orphanet:329931 C3 glomerulonephritis -Orphanet:329918 C3 glomerulopathy -Orphanet:135 CACH syndrome -Orphanet:448010 CAD-CDG -Orphanet:369942 CADDS -Orphanet:619972 CADINS disease -Orphanet:83472 CAMOS syndrome -Orphanet:71279 CANOMAD syndrome -Orphanet:468684 CCDC115-CDG -Orphanet:600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome -Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome -Orphanet:505652 CDKL5-deficiency disorder -Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome -Orphanet:66631 CEDNIK syndrome -Orphanet:569816 CELSR1-related late-onset primary lymphedema -Orphanet:1401 CHAND syndrome -Orphanet:138 CHARGE syndrome -Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome -Orphanet:642675 CHD8 overgrowth syndrome -Orphanet:139 CHILD syndrome -Orphanet:3474 CHIME syndrome -Orphanet:263463 CHST3-related skeletal dysplasia -Orphanet:435651 CIDEC-related familial partial lipodystrophy -Orphanet:1451 CINCA syndrome -Orphanet:251383 CK syndrome -Orphanet:168984 CLAPO syndrome -Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome -Orphanet:610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome -Orphanet:284448 CLIPPERS -Orphanet:228329 CLN1 disease -Orphanet:228337 CLN10 disease -Orphanet:314629 CLN11 disease -Orphanet:352709 CLN13 disease -Orphanet:228349 CLN2 disease -Orphanet:228346 CLN3 disease -Orphanet:228340 CLN4A disease -Orphanet:228343 CLN4B disease -Orphanet:228360 CLN5 disease -Orphanet:228363 CLN6 disease -Orphanet:228366 CLN7 disease -Orphanet:228354 CLN8 disease -Orphanet:228357 CLN9 disease -Orphanet:140944 CLOVES syndrome -Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy -Orphanet:397725 COASY protein-associated neurodegeneration -Orphanet:1458 CODAS syndrome -Orphanet:1466 COFS syndrome -Orphanet:263508 COG1-CDG -Orphanet:435934 COG2-CDG -Orphanet:263501 COG4-CDG -Orphanet:263487 COG5-CDG -Orphanet:464443 COG6-CGD -Orphanet:79333 COG7-CDG -Orphanet:95428 COG8-CDG -Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease -Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy -Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy -Orphanet:633028 CPE-related Prader-Willi-like syndrome -Orphanet:363611 CTCF-related neurodevelopmental disorder -Orphanet:1310 Caffey disease -Orphanet:199260 Calcifying aponeurotic fibroma -Orphanet:280062 Calciphylaxis -Orphanet:280065 Calciphylaxis cutis -Orphanet:565909 Calpain-3-related limb-girdle muscular dystrophy D4 -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 -Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome -Orphanet:1318 Campomelia, Cumming type -Orphanet:140 Campomelic dysplasia -Orphanet:93439 Campomelic dysplasia and related disorders -Orphanet:1319 Camptobrachydactyly -Orphanet:295016 Camptodactyly of fingers -Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 -Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 -Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 -Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome -Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome -Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome -Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome -Orphanet:1325 Camptodactyly-taurinuria syndrome -Orphanet:1328 Camurati-Engelmann disease -Orphanet:141 Canavan disease -Orphanet:631251 Cancer of unknown primary site -Orphanet:71505 Cancer-associated retinopathy -Orphanet:1517 Cantú syndrome -Orphanet:171881 Cap myopathy -Orphanet:160148 Cap polyposis -Orphanet:137667 Capillary malformation-arteriovenous malformation -Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency -Orphanet:213605 Carcinofibroma of the corpus uteri -Orphanet:100093 Carcinoid syndrome -Orphanet:70482 Carcinoma of esophagus -Orphanet:418945 Carcinoma of esophagus, salivary gland type -Orphanet:300557 Carcinoma of the ampulla of Vater -Orphanet:213787 Carcinosarcoma of the cervix uteri -Orphanet:213610 Carcinosarcoma of the corpus uteri -Orphanet:137628 Cardiac anomalies-heterotaxy syndrome -Orphanet:1686 Cardiac diverticulum -Orphanet:647811 Cardiac-urogenital syndrome -Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome -Orphanet:2872 Cardiocranial syndrome, Pfeiffer type -Orphanet:1340 Cardiofaciocutaneous syndrome -Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome -Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome -Orphanet:3238 Cardiospondylocarpofacial syndrome -Orphanet:1358 Carey-Fineman-Ziter syndrome -Orphanet:97355 Caribbean parkinsonism -Orphanet:1359 Carney complex -Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome -Orphanet:139411 Carney triad -Orphanet:97286 Carney-Stratakis syndrome -Orphanet:156 Carnitine palmitoyl transferase 1A deficiency -Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form -Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form -Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form -Orphanet:157 Carnitine palmitoyltransferase II deficiency -Orphanet:159 Carnitine-acylcarnitine translocase deficiency -Orphanet:1361 Carnosinase deficiency -Orphanet:53035 Caroli disease -Orphanet:480520 Caroli syndrome -Orphanet:65759 Carpenter syndrome -Orphanet:2767 Carpotarsal osteochondromatosis -Orphanet:175 Cartilage-hair hypoplasia -Orphanet:65282 Carvajal syndrome -Orphanet:160 Castleman disease -Orphanet:195 Cat-eye syndrome -Orphanet:50839 Cat-scratch disease -Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome -Orphanet:1368 Cataract-ataxia-deafness syndrome -Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome -Orphanet:1383 Cataract-deafness-hypogonadism syndrome -Orphanet:162 Cataract-glaucoma syndrome -Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome -Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome -Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome -Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome -Orphanet:1377 Cataract-microcornea syndrome -Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome -Orphanet:464343 Catastrophic antiphospholipid syndrome -Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia -Orphanet:1388 Catel-Manzke syndrome -Orphanet:575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy -Orphanet:1123 Caudal appendage-deafness syndrome -Orphanet:1756 Caudal duplication -Orphanet:3027 Caudal regression syndrome -Orphanet:165958 Cavitary myiasis -Orphanet:293208 Celiac artery compression syndrome -Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome -Orphanet:3258 Cenani-Lenz syndrome -Orphanet:75377 Central areolar choroidal dystrophy -Orphanet:98972 Central cloudy dystrophy of François -Orphanet:226298 Central congenital hypothyroidism -Orphanet:597 Central core disease -Orphanet:178029 Central diabetes insipidus -Orphanet:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome -Orphanet:269194 Central nervous system cystic malformation -Orphanet:251870 Central nervous system embryonal tumor -Orphanet:98044 Central nervous system malformation -Orphanet:641396 Central nervous system tuberculosis -Orphanet:73256 Central neurocytoma -Orphanet:295004 Central polydactyly +Orphanet:653712 CHD4-related neurodevelopmental disorder +Orphanet:658778 COQ7-related distal hereditary motor neuropathy Orphanet:649929 Central precocious puberty in male Orphanet:648684 Central retinal artery occlusion -Orphanet:411527 Central retinal vein occlusion -Orphanet:443079 Central serous chorioretinopathy -Orphanet:90156 Centrifugal lipodystrophy -Orphanet:595 Centronuclear myopathy -Orphanet:268817 Cephalocele -Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome -Orphanet:207028 Cerebellar ataxia with peripheral neuropathy -Orphanet:94122 Cerebellar ataxia, Cayman type -Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome -Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome -Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome -Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome -Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome -Orphanet:251931 Cerebellar liponeurocytoma -Orphanet:182061 Cerebellar malformation -Orphanet:444072 Cerebellar-facial-dental syndrome -Orphanet:46724 Cerebral arteriovenous malformation -Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy -Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy -Orphanet:268950 Cerebral cortical dysplasia -Orphanet:166487 Cerebral diseases of vascular origin with epilepsy -Orphanet:98544 Cerebral lipidosis with dementia -Orphanet:166478 Cerebral malformation with epilepsy -Orphanet:79158 Cerebral organic aciduria -Orphanet:329217 Cerebral sinovenous thrombosis -Orphanet:447788 Cerebral visual impairment -Orphanet:1393 Cerebrocostomandibular syndrome -Orphanet:141189 Cerebrofacial arteriovenous metameric syndrome -Orphanet:141194 Cerebrofacial arteriovenous metameric syndrome type 1 -Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 -Orphanet:314679 Cerebrofacioarticular syndrome -Orphanet:1394 Cerebrofaciothoracic dysplasia -Orphanet:66625 Cerebrooculonasal syndrome -Orphanet:909 Cerebrotendinous xanthomatosis -Orphanet:169079 Cernunnos-XLF deficiency -Orphanet:98989 Cerulean cataract -Orphanet:99079 Cervical aortic arch -Orphanet:141046 Cervical dermoid cyst -Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome -Orphanet:141067 Cervicofacial fibrochondroma -Orphanet:98979 Chandler syndrome -Orphanet:182083 Channelopathy with epilepsy Orphanet:645285 Chaotic conus spinal cord lipoma -Orphanet:319244 Chapare hemorrhagic fever -Orphanet:46627 Char syndrome -Orphanet:65753 Charcot-Marie-Tooth disease type 1 -Orphanet:101081 Charcot-Marie-Tooth disease type 1A -Orphanet:101082 Charcot-Marie-Tooth disease type 1B -Orphanet:101083 Charcot-Marie-Tooth disease type 1C -Orphanet:101084 Charcot-Marie-Tooth disease type 1D -Orphanet:90658 Charcot-Marie-Tooth disease type 1E -Orphanet:101085 Charcot-Marie-Tooth disease type 1F -Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 -Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 -Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 -Orphanet:101102 Charcot-Marie-Tooth disease type 2H -Orphanet:300319 Charcot-Marie-Tooth disease type 2P -Orphanet:397968 Charcot-Marie-Tooth disease type 2R -Orphanet:443073 Charcot-Marie-Tooth disease type 2S -Orphanet:495274 Charcot-Marie-Tooth disease type 2T -Orphanet:64749 Charcot-Marie-Tooth disease type 4 -Orphanet:99948 Charcot-Marie-Tooth disease type 4A -Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 -Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 -Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 -Orphanet:99949 Charcot-Marie-Tooth disease type 4C -Orphanet:99950 Charcot-Marie-Tooth disease type 4D -Orphanet:99951 Charcot-Marie-Tooth disease type 4E -Orphanet:99952 Charcot-Marie-Tooth disease type 4F -Orphanet:99953 Charcot-Marie-Tooth disease type 4G -Orphanet:99954 Charcot-Marie-Tooth disease type 4H -Orphanet:139515 Charcot-Marie-Tooth disease type 4J -Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome -Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy -Orphanet:1406 Charlie M syndrome -Orphanet:1221 Cheilitis glandularis -Orphanet:99647 Cheirospondyloenchondromatosis -Orphanet:184 Cherubism -Orphanet:324625 Chikungunya -Orphanet:90280 Chilblain lupus -Orphanet:64280 Childhood absence epilepsy -Orphanet:168782 Childhood disintegrative disorder -Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency -Orphanet:589824 Childhood-onset Steinert myotonic dystrophy -Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia -Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia -Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome -Orphanet:494541 Childhood-onset benign chorea with striatal involvement -Orphanet:98259 Childhood-onset epilepsy syndrome -Orphanet:247667 Childhood-onset hypophosphatasia -Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder -Orphanet:171439 Childhood-onset nemaline myopathy -Orphanet:466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome -Orphanet:641496 Childhood-onset schizophrenia -Orphanet:401866 Childhood-onset spasticity with hyperglycinemia -Orphanet:137914 Choanal atresia -Orphanet:137920 Choanal atresia, bilateral -Orphanet:137917 Choanal atresia, unilateral -Orphanet:589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome -Orphanet:70567 Cholangiocarcinoma -Orphanet:480501 Choledochal cyst -Orphanet:173 Cholera -Orphanet:1414 Cholestasis-lymphedema syndrome -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome -Orphanet:79506 Cholesterol-ester transfer protein deficiency -Orphanet:75234 Cholesteryl ester storage disease -Orphanet:93442 Chondrodysplasia punctata -Orphanet:79347 Chondrodysplasia punctata, Toriello type -Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type -Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type -Orphanet:1422 Chondrodysplasia-difference of sex development syndrome -Orphanet:319195 Chondroectodermal dysplasia with night blindness -Orphanet:404507 Chondromyxoid fibroma -Orphanet:55880 Chondrosarcoma -Orphanet:251674 Chordoid glioma -Orphanet:178 Chordoma -Orphanet:2388 Choreoacanthocytosis -Orphanet:252015 Choriocarcinoma of the central nervous system -Orphanet:251899 Choroid plexus carcinoma -Orphanet:251896 Choroid plexus tumor -Orphanet:1433 Choroidal atrophy-alopecia syndrome -Orphanet:180 Choroideremia -Orphanet:85278 Christianson syndrome -Orphanet:182 Chromomycosis -Orphanet:319303 Chromophobe renal cell carcinoma -Orphanet:98642 Chromosomal anomaly with cataract -Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature -Orphanet:93461 Chromosomal disease with overgrowth -Orphanet:98159 Chromosome X structural anomaly -Orphanet:98158 Chromosome Y structural anomaly -Orphanet:2566 Chronic Epstein-Barr virus infection syndrome -Orphanet:208974 Chronic acquired demyelinating polyneuropathy -Orphanet:330064 Chronic actinic dermatitis -Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome -Orphanet:133 Chronic beryllium disease -Orphanet:529808 Chronic bilirubin encephalopathy -Orphanet:163531 Chronic cutaneous lupus erythematosus -Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency -Orphanet:1670 Chronic diarrhea with villous atrophy -Orphanet:98255 Chronic encephalitis -Orphanet:279891 Chronic endophthalmitis -Orphanet:468641 Chronic enteropathy associated with SLCO2A1 gene -Orphanet:168940 Chronic eosinophilic leukemia -Orphanet:99921 Chronic graft versus host disease -Orphanet:379 Chronic granulomatous disease -Orphanet:95161 Chronic hepatic porphyria -Orphanet:396 Chronic hiccup -Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity -Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy -Orphanet:615970 Chronic intervillositis of unknown etiology -Orphanet:294422 Chronic intestinal failure -Orphanet:2978 Chronic intestinal pseudoobstruction -Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells -Orphanet:566396 Chronic mast cell leukemia -Orphanet:1334 Chronic mucocutaneous candidiasis -Orphanet:521 Chronic myeloid leukemia -Orphanet:98823 Chronic myelomonocytic leukemia -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable -Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency -Orphanet:86829 Chronic neutrophilic leukemia -Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis -Orphanet:91359 Chronic pneumonitis of infancy -Orphanet:208978 Chronic polyradiculoneuropathy -Orphanet:101959 Chronic primary adrenal insufficiency -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy -Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency -Orphanet:70591 Chronic thromboembolic pulmonary hypertension -Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency -Orphanet:314597 Chudley-McCullough syndrome -Orphanet:238557 Chuvash erythrocytosis -Orphanet:71 Chylomicron retention disease -Orphanet:1160 Chylous ascites -Orphanet:167 Chédiak-Higashi syndrome -Orphanet:93426 Ciliopathies with major skeletal involvement -Orphanet:363250 Ciliopathy -Orphanet:69744 Circumscribed palmoplantar hypokeratosis -Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome -Orphanet:57777 Cirrhotic cardiomyopathy -Orphanet:247582 Citrin deficiency -Orphanet:187 Citrullinemia -Orphanet:247525 Citrullinemia type I -Orphanet:247585 Citrullinemia type II -Orphanet:600731 Clark-Baraitser syndrome -Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency -Orphanet:391 Classic Hodgkin lymphoma -Orphanet:98846 Classic Hodgkin lymphoma, lymphocyte-depleted type -Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type -Orphanet:98844 Classic Hodgkin lymphoma, mixed cellularity type -Orphanet:98843 Classic Hodgkin lymphoma, nodular sclerosis type -Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency -Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form -Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form -Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency -Orphanet:617408 Classic eosinophilic pustular folliculitis -Orphanet:79239 Classic galactosemia -Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome -Orphanet:58017 Classic hairy cell leukemia -Orphanet:394 Classic homocystinuria -Orphanet:102009 Classic lissencephaly -Orphanet:268145 Classic maple syrup urine disease -Orphanet:251867 Classic medulloblastoma -Orphanet:324604 Classic multiminicore myopathy -Orphanet:2584 Classic mycosis fungoides -Orphanet:329977 Classic neuroendocrine tumor of appendix -Orphanet:79163 Classic organic aciduria -Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration -Orphanet:79254 Classic phenylketonuria -Orphanet:240071 Classic progressive supranuclear palsy syndrome -Orphanet:538863 Classic pyoderma gangrenosum -Orphanet:443192 Classic stiff person syndrome -Orphanet:287 Classical Ehlers-Danlos syndrome -Orphanet:645613 Classical dermatomyositis -Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 -Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 -Orphanet:398971 Clear cell adenocarcinoma of the ovary -Orphanet:404511 Clear cell papillary renal cell carcinoma -Orphanet:319276 Clear cell renal carcinoma -Orphanet:457246 Clear cell sarcoma of kidney -Orphanet:101023 Cleft hard palate -Orphanet:141291 Cleft lip and alveolus -Orphanet:508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome -Orphanet:1991 Cleft lip with or without cleft palate -Orphanet:1995 Cleft lip-retinopathy syndrome -Orphanet:199306 Cleft lip/palate -Orphanet:2003 Cleft lip/palate-deafness-sacral lipoma syndrome -Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome -Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome -Orphanet:95465 Cleft mitral valve -Orphanet:2014 Cleft palate -Orphanet:2013 Cleft palate-large ears-small head syndrome -Orphanet:2016 Cleft palate-lateral synechia syndrome -Orphanet:2015 Cleft palate-short stature-vertebral anomalies syndrome -Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome -Orphanet:99772 Cleft velum -Orphanet:1452 Cleidocranial dysplasia -Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect -Orphanet:1453 Cleidorhizomelic syndrome -Orphanet:98958 Climatic droplet keratopathy -Orphanet:93929 Cloacal exstrophy -Orphanet:268366 Closed iniencephaly +Orphanet:652519 Cleft palate-congenital heart defect-intellectual disability syndrome +Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation +Orphanet:658917 Clonorchiasis Orphanet:645202 Closed spinal dysraphism -Orphanet:100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome -Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome -Orphanet:190 Coats disease -Orphanet:313838 Coats plus syndrome -Orphanet:51577 Cobblestone lissencephaly -Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement -Orphanet:1911 Cocaine embryofetopathy -Orphanet:90068 Cocaine intoxication -Orphanet:228123 Coccidioidomycosis -Orphanet:502318 Cochlear nerve deficiency -Orphanet:3233 Cochleosaccular degeneration-cataract syndrome -Orphanet:502305 Cochleovestibular malformation -Orphanet:191 Cockayne syndrome -Orphanet:90321 Cockayne syndrome type 1 -Orphanet:90322 Cockayne syndrome type 2 -Orphanet:90324 Cockayne syndrome type 3 -Orphanet:35656 Coenzyme Q10 deficiency -Orphanet:192 Coffin-Lowry syndrome -Orphanet:1465 Coffin-Siris syndrome -Orphanet:1467 Cogan syndrome -Orphanet:98980 Cogan-Reese syndrome -Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome -Orphanet:193 Cohen syndrome -Orphanet:31824 Colchicine poisoning -Orphanet:56425 Cold agglutinin disease -Orphanet:157820 Cold-induced sweating syndrome -Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum -Orphanet:2050 Cole-Carpenter syndrome Orphanet:646098 Collagen VI-related congenital muscular dystrophy -Orphanet:84087 Collagen type III glomerulopathy -Orphanet:247203 Collecting duct carcinoma -Orphanet:98942 Coloboma of choroid and retina -Orphanet:98943 Coloboma of eye lens -Orphanet:98946 Coloboma of eyelid -Orphanet:155889 Coloboma of inferior eyelid -Orphanet:98944 Coloboma of iris -Orphanet:98945 Coloboma of macula -Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome -Orphanet:98947 Coloboma of optic disc -Orphanet:155884 Coloboma of superior eyelid -Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome -Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome -Orphanet:98938 Colobomatous microphthalmia -Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome -Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome -Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome -Orphanet:1198 Colonic atresia -Orphanet:98658 Color-vision disease -Orphanet:83595 Colorado tick fever -Orphanet:101972 Combined T and B cell immunodeficiency -Orphanet:35909 Combined deficiency of factor V and factor VIII -Orphanet:600691 Combined deficiency of factor VII and factor X -Orphanet:98203 Combined dystonia -Orphanet:440727 Combined hamartoma of the retina and retinal pigment epithelium -Orphanet:529852 Combined hepatocellular carcinoma and cholangiocarcinoma -Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves -Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency -Orphanet:238505 Combined immunodeficiency due to CD27 deficiency -Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency -Orphanet:538958 Combined immunodeficiency due to CD70 deficiency -Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction -Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency -Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency -Orphanet:505227 Combined immunodeficiency due to GINS1 deficiency -Orphanet:357329 Combined immunodeficiency due to IL21R deficiency -Orphanet:538963 Combined immunodeficiency due to ITK deficiency -Orphanet:445018 Combined immunodeficiency due to LRBA deficiency -Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency -Orphanet:504530 Combined immunodeficiency due to Moesin deficiency -Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency -Orphanet:431149 Combined immunodeficiency due to OX40 deficiency -Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency -Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency -Orphanet:314689 Combined immunodeficiency due to STK4 deficiency -Orphanet:476113 Combined immunodeficiency due to TFRC deficiency -Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency -Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency -Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies -Orphanet:157949 Combined immunodeficiency with granulomatosis -Orphanet:436252 Combined immunodeficiency-enteropathy spectrum -Orphanet:289504 Combined malonic and methylmalonic acidemia -Orphanet:324535 Combined oxidative phosphorylation defect type 11 -Orphanet:319514 Combined oxidative phosphorylation defect type 13 -Orphanet:319519 Combined oxidative phosphorylation defect type 14 -Orphanet:319524 Combined oxidative phosphorylation defect type 15 -Orphanet:369913 Combined oxidative phosphorylation defect type 17 -Orphanet:254920 Combined oxidative phosphorylation defect type 2 -Orphanet:420728 Combined oxidative phosphorylation defect type 20 -Orphanet:420733 Combined oxidative phosphorylation defect type 21 -Orphanet:444013 Combined oxidative phosphorylation defect type 23 -Orphanet:444458 Combined oxidative phosphorylation defect type 24 -Orphanet:447954 Combined oxidative phosphorylation defect type 25 -Orphanet:477684 Combined oxidative phosphorylation defect type 26 -Orphanet:477774 Combined oxidative phosphorylation defect type 27 -Orphanet:478029 Combined oxidative phosphorylation defect type 29 -Orphanet:478042 Combined oxidative phosphorylation defect type 30 -Orphanet:565624 Combined oxidative phosphorylation defect type 39 -Orphanet:254925 Combined oxidative phosphorylation defect type 4 -Orphanet:254930 Combined oxidative phosphorylation defect type 7 -Orphanet:319504 Combined oxidative phosphorylation defect type 8 -Orphanet:319509 Combined oxidative phosphorylation defect type 9 -Orphanet:309111 Combined pancreatic lipase-colipase deficiency -Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms -Orphanet:300564 Combined pulmonary fibrosis-emphysema syndrome -Orphanet:141061 Commissural lip fistula -Orphanet:458833 Common cystic lymphatic malformation -Orphanet:1572 Common variable immunodeficiency -Orphanet:280821 Communicating congenital bronchopulmonary-foregut malformation -Orphanet:280133 Complement component 3 deficiency -Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome -Orphanet:99429 Complete androgen insensitivity syndrome -Orphanet:1329 Complete atrioventricular septal defect -Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia -Orphanet:576227 Complete atrioventricular septal defect without ventricular hypoplasia -Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot -Orphanet:98949 Complete cryptophthalmia -Orphanet:498491 Complete hemimelia -Orphanet:254688 Complete hydatidiform mole -Orphanet:180126 Complete septate uterus -Orphanet:263708 Complex chromosomal rearrangement -Orphanet:102013 Complex hereditary spastic paraplegia -Orphanet:457378 Complex lethal osteochondrodysplasia -Orphanet:83452 Complex regional pain syndrome -Orphanet:99995 Complex regional pain syndrome type 1 -Orphanet:99994 Complex regional pain syndrome type 2 -Orphanet:211277 Complex vascular malformation with associated anomalies -Orphanet:306644 Complication after organ transplantation -Orphanet:458758 Composite hemangioendothelioma -Orphanet:168966 Composite lymphoma -Orphanet:3216 Conductive deafness-malformed external ear syndrome -Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome -Orphanet:209932 Cone dystrophy with supernormal rod response -Orphanet:1872 Cone rod dystrophy -Orphanet:221142 Confetti-like macular atrophy -Orphanet:70596 Congenital Epstein-Barr virus infection -Orphanet:99095 Congenital Gerbode defect -Orphanet:91413 Congenital Horner syndrome -Orphanet:440233 Congenital abducens nerve palsy -Orphanet:294979 Congenital absence of both forearm and hand -Orphanet:294981 Congenital absence of both lower leg and foot -Orphanet:294977 Congenital absence of thigh and lower leg with foot present -Orphanet:294975 Congenital absence of upper arm and forearm with hand present -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral -Orphanet:324353 Congenital achiasma -Orphanet:418 Congenital adrenal hyperplasia -Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency -Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency -Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency -Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency -Orphanet:495879 Congenital agenesis of the scrotum -Orphanet:98604 Congenital alacrima -Orphanet:79 Congenital alpha2-antiplasmin deficiency -Orphanet:210122 Congenital alveolar capillary dysplasia -Orphanet:3319 Congenital amegakaryocytic thrombocytopenia -Orphanet:488586 Congenital amyoplasia -Orphanet:86816 Congenital analbuminemia -Orphanet:95507 Congenital anomaly of hepatic vein -Orphanet:95498 Congenital anomaly of superior vena cava -Orphanet:95500 Congenital anomaly of the coronary sinus -Orphanet:98724 Congenital anomaly of the great arteries -Orphanet:363189 Congenital anomaly of the great veins -Orphanet:95499 Congenital anomaly of the inferior vena cava -Orphanet:99055 Congenital anomaly of the tricuspid valve chordae -Orphanet:95448 Congenital aortic valve atresia -Orphanet:101043 Congenital aortic valve dysplasia -Orphanet:3093 Congenital aortic valve stenosis -Orphanet:2037 Congenital aortopulmonary window -Orphanet:617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome -Orphanet:98731 Congenital arteriovenous fistula -Orphanet:1195 Congenital atransferrinemia -Orphanet:566192 Congenital autosomal recessive small-platelet thrombocytopenia -Orphanet:538101 Congenital axonal neuropathy with encephalopathy -Orphanet:48 Congenital bilateral absence of vas deferens -Orphanet:93177 Congenital bilateral megacalycosis -Orphanet:79301 Congenital bile acid synthesis defect type 1 -Orphanet:79303 Congenital bile acid synthesis defect type 2 -Orphanet:79302 Congenital bile acid synthesis defect type 3 -Orphanet:79095 Congenital bile acid synthesis defect type 4 -Orphanet:514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome -Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency -Orphanet:289499 Congenital cataract microcornea with corneal opacity -Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome -Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome -Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome -Orphanet:521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome -Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome -Orphanet:661 Congenital central hypoventilation syndrome -Orphanet:512260 Congenital cerebellar ataxia due to RNU12 mutation -Orphanet:831 Congenital cervical spinal stenosis -Orphanet:53689 Congenital chloride diarrhea -Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy -Orphanet:264688 Congenital chylothorax -Orphanet:269505 Congenital communicating hydrocephalus -Orphanet:99129 Congenital complete agenesis of pericardium -Orphanet:115 Congenital contractural arachnodactyly -Orphanet:53691 Congenital cornea plana -Orphanet:95491 Congenital coronary artery aneurysm -Orphanet:519384 Congenital cystic eye -Orphanet:168612 Congenital deficiency in alpha-fetoprotein -Orphanet:294947 Congenital deformities of fingers -Orphanet:294944 Congenital deformities of limbs -Orphanet:2140 Congenital diaphragmatic hernia -Orphanet:137 Congenital disorder of glycosylation -Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature -Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature -Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly -Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature -Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement -Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement -Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature -Orphanet:371047 Congenital disorder of glycosylation with neurological involvement -Orphanet:371200 Congenital disorder of glycosylation with skin involvement -Orphanet:371195 Congenital disorder of glycosylation-related bone disorder -Orphanet:85 Congenital dyserythropoietic anemia -Orphanet:98869 Congenital dyserythropoietic anemia type I -Orphanet:98873 Congenital dyserythropoietic anemia type II -Orphanet:98870 Congenital dyserythropoietic anemia type III -Orphanet:293825 Congenital dyserythropoietic anemia type IV -Orphanet:98570 Congenital ectropion -Orphanet:91491 Congenital ectropion uveae -Orphanet:295227 Congenital elbow dislocation, bilateral -Orphanet:295225 Congenital elbow dislocation, unilateral -Orphanet:103910 Congenital enterocyte heparan sulfate deficiency -Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency -Orphanet:292 Congenital enterovirus infection -Orphanet:157826 Congenital epulis -Orphanet:231573 Congenital erosive and vesicular dermatosis -Orphanet:79277 Congenital erythropoietic porphyria -Orphanet:91358 Congenital esophageal diverticulum -Orphanet:645749 Congenital esophageal stenosis -Orphanet:99176 Congenital eyelid retraction -Orphanet:325 Congenital factor II deficiency -Orphanet:326 Congenital factor V deficiency -Orphanet:327 Congenital factor VII deficiency -Orphanet:328 Congenital factor X deficiency -Orphanet:329 Congenital factor XI deficiency -Orphanet:330 Congenital factor XII deficiency -Orphanet:331 Congenital factor XIII deficiency -Orphanet:2020 Congenital fiber-type disproportion myopathy -Orphanet:335 Congenital fibrinogen deficiency -Orphanet:45358 Congenital fibrosis of extraocular muscles -Orphanet:476406 Congenital generalized hypercontractile muscle stiffness syndrome -Orphanet:1023 Congenital generalized hypertrichosis, Ambras type -Orphanet:528 Congenital generalized lipodystrophy -Orphanet:295232 Congenital genu flexum -Orphanet:295229 Congenital genu recurvatum -Orphanet:98976 Congenital glaucoma -Orphanet:79299 Congenital glucokinase-related hyperinsulinism -Orphanet:60041 Congenital heart block -Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome -Orphanet:458775 Congenital hemangioma -Orphanet:98975 Congenital hereditary endothelial dystrophy type I -Orphanet:293603 Congenital hereditary endothelial dystrophy type II -Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome -Orphanet:293 Congenital herpes simplex virus infection -Orphanet:483 Congenital high-molecular-weight kininogen deficiency -Orphanet:2185 Congenital hydrocephalus -Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency -Orphanet:174590 Congenital hypogonadotropic hypogonadism -Orphanet:294988 Congenital hypoplasia of thumb -Orphanet:442 Congenital hypothyroidism -Orphanet:95711 Congenital hypothyroidism due to developmental anomaly -Orphanet:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs -Orphanet:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies -Orphanet:79394 Congenital ichthyosiform erythroderma -Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome -Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome -Orphanet:583097 Congenital infiltrating lipomatosis of the face -Orphanet:453510 Congenital insensitivity to pain with severe intellectual disability -Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy -Orphanet:217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation -Orphanet:104006 Congenital intestinal disease due to an enzymatic defect -Orphanet:1229 Congenital intrauterine infection-like syndrome -Orphanet:332 Congenital intrinsic factor deficiency -Orphanet:199296 Congenital isolated ACTH deficiency -Orphanet:657 Congenital isolated hyperinsulinism -Orphanet:294951 Congenital joint dislocations -Orphanet:295034 Congenital knee dislocation -Orphanet:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome -Orphanet:53690 Congenital lactase deficiency -Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type -Orphanet:141124 Congenital laryngeal cyst -Orphanet:137932 Congenital laryngeal palsy -Orphanet:2374 Congenital laryngeal web -Orphanet:2373 Congenital laryngomalacia -Orphanet:1055 Congenital left ventricular aneurysm -Orphanet:1954 Congenital lethal erythroderma -Orphanet:210163 Congenital lethal myopathy, Compton-North type -Orphanet:68378 Congenital limb malformation -Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome -Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency -Orphanet:1928 Congenital lobar emphysema -Orphanet:2430 Congenital macroglossia -Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature -Orphanet:98561 Congenital malformation of the eyelid -Orphanet:93109 Congenital megacalycosis -Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization -Orphanet:2665 Congenital mesoblastic nephroma -Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome -Orphanet:566 Congenital microcoria -Orphanet:199293 Congenital microgastria -Orphanet:2447 Congenital mitral malformation -Orphanet:99057 Congenital mitral stenosis -Orphanet:95464 Congenital mitral valve insufficiency and/or stenosis -Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia -Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies -Orphanet:97242 Congenital muscular dystrophy -Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation -Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy -Orphanet:98893 Congenital muscular dystrophy type 1B -Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement -Orphanet:371007 Congenital muscular dystrophy with hyperlaxity -Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency -Orphanet:370968 Congenital muscular dystrophy with intellectual disability -Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy -Orphanet:370980 Congenital muscular dystrophy without intellectual disability -Orphanet:272 Congenital muscular dystrophy, Fukuyama type -Orphanet:75840 Congenital muscular dystrophy, Ullrich type -Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome -Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome -Orphanet:590 Congenital myasthenic syndrome -Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect -Orphanet:97245 Congenital myopathy -Orphanet:172976 Congenital myopathy with cores -Orphanet:98904 Congenital myopathy with excess of thin filaments -Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores -Orphanet:424107 Congenital myopathy with myasthenic-like onset -Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers -Orphanet:199329 Congenital myopathy, Paradas type -Orphanet:206973 Congenital myotonia -Orphanet:457074 Congenital nemaline myopathy -Orphanet:839 Congenital nephrotic syndrome, Finnish type -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis -Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome -Orphanet:269510 Congenital non-communicating hydrocephalus -Orphanet:440221 Congenital oculomotor nerve palsy -Orphanet:519333 Congenital optic disc excavation +Orphanet:653709 Cone rod dystrophy-short stature syndrome +Orphanet:653728 Congenital insensitivity to pain syndrome, Marsili type Orphanet:522514 Congenital optic disc excavation of genetic origin -Orphanet:157713 Congenital or early infantile CACH syndrome -Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome -Orphanet:313906 Congenital pancreatic cyst -Orphanet:139414 Congenital panfollicular nevus -Orphanet:99130 Congenital partial agenesis of pericardium -Orphanet:99124 Congenital partial pulmonary venous return anomaly -Orphanet:295036 Congenital patella dislocation -Orphanet:99072 Congenital patent ductus arteriosus aneurysm -Orphanet:2846 Congenital pericardium anomaly -Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency -Orphanet:480531 Congenital portosystemic shunt -Orphanet:749 Congenital prekallikrein deficiency -Orphanet:83461 Congenital primary aphakia -Orphanet:569821 Congenital primary lymphedema of Gordon -Orphanet:617 Congenital primary megaureter -Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form -Orphanet:238646 Congenital primary megaureter, obstructed form -Orphanet:544578 Congenital primary megaureter, refluxing and obstructed form -Orphanet:238650 Congenital primary megaureter, refluxing form -Orphanet:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome -Orphanet:66630 Congenital pseudoarthrosis of the clavicle -Orphanet:295020 Congenital pseudoarthrosis of the femur -Orphanet:295022 Congenital pseudoarthrosis of the fibula -Orphanet:157808 Congenital pseudoarthrosis of the limbs -Orphanet:295024 Congenital pseudoarthrosis of the radius -Orphanet:295018 Congenital pseudoarthrosis of the tibia -Orphanet:295026 Congenital pseudoarthrosis of the ulna -Orphanet:91411 Congenital ptosis -Orphanet:2444 Congenital pulmonary airway malformation -Orphanet:280827 Congenital pulmonary airway malformation type 0 -Orphanet:280832 Congenital pulmonary airway malformation type 1 -Orphanet:280840 Congenital pulmonary airway malformation type 2 -Orphanet:280847 Congenital pulmonary airway malformation type 3 -Orphanet:280854 Congenital pulmonary airway malformation type 4 -Orphanet:2414 Congenital pulmonary lymphangiectasia -Orphanet:3161 Congenital pulmonary sequestration -Orphanet:3189 Congenital pulmonary valvar stenosis -Orphanet:99126 Congenital pulmonary vein atresia -Orphanet:98729 Congenital pulmonary veins anomaly -Orphanet:3090 Congenital pulmonary venous return anomaly -Orphanet:3269 Congenital radioulnar synostosis -Orphanet:97598 Congenital renal artery stenosis -Orphanet:2040 Congenital respiratory-biliary fistula -Orphanet:281190 Congenital reticular ichthyosiform erythroderma -Orphanet:353334 Congenital retinal arteriovenous communication -Orphanet:290 Congenital rubella syndrome -Orphanet:238536 Congenital secondary polycythemia -Orphanet:2301 Congenital short bowel syndrome -Orphanet:93400 Congenital sialidosis type 2 -Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome -Orphanet:263435 Congenital smooth muscle hamartoma -Orphanet:103908 Congenital sodium diarrhea -Orphanet:215 Congenital stationary night blindness -Orphanet:99122 Congenital stenosis of the inferior vena cava -Orphanet:101068 Congenital stromal corneal dystrophy -Orphanet:141121 Congenital subglottic stenosis -Orphanet:35122 Congenital sucrase-isomaltase deficiency -Orphanet:99059 Congenital supravalvular mitral ring -Orphanet:98948 Congenital symblepharon -Orphanet:499009 Congenital syphilis -Orphanet:2039 Congenital systemic arteriovenous fistula -Orphanet:3091 Congenital systemic veins anomaly -Orphanet:210576 Congenital temporomandibular joint ankylosis -Orphanet:93583 Congenital thrombotic thrombocytopenic purpura -Orphanet:95718 Congenital thyroid malformation without hypothyroidism -Orphanet:99125 Congenital total pulmonary venous return anomaly -Orphanet:858 Congenital toxoplasmosis -Orphanet:141127 Congenital tracheal stenosis -Orphanet:95430 Congenital tracheomalacia -Orphanet:98721 Congenital tricuspid malformation -Orphanet:95459 Congenital tricuspid stenosis -Orphanet:555874 Congenital tricuspid valve dysplasia -Orphanet:231013 Congenital trigeminal anesthesia -Orphanet:98686 Congenital trochlear nerve palsy -Orphanet:92050 Congenital tufting enteropathy -Orphanet:99060 Congenital unguarded mitral orifice -Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris -Orphanet:291 Congenital varicella syndrome -Orphanet:235832 Congenital vascular bone syndrome -Orphanet:2291 Congenital velopharyngeal incompetence -Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome -Orphanet:178382 Congenital vertical talus -Orphanet:295203 Congenital vertical talus, bilateral -Orphanet:295201 Congenital vertical talus, unilateral -Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency -Orphanet:589821 Congenital-onset Steinert myotonic dystrophy -Orphanet:216694 Congenitally corrected transposition of the great arteries -Orphanet:2391 Congenitally short costocoracoid ligament -Orphanet:860 Congenitally uncorrected transposition of the great arteries -Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation -Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation Orphanet:647916 Conjoined twins -Orphanet:617910 Conjunctival malignant melanoma -Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency -Orphanet:420794 Cono-spondylar dysplasia -Orphanet:2445 Conotruncal heart malformations -Orphanet:98360 Constitutional anemia due to iron metabolism disorder -Orphanet:248296 Constitutional deficiency anemia -Orphanet:293830 Constitutional dyserythropoietic anemia -Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis -Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder -Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease -Orphanet:252202 Constitutional mismatch repair deficiency syndrome -Orphanet:98362 Constitutional sideroblastic anemia -Orphanet:295000 Constriction rings syndrome -Orphanet:725 Continuous spikes and waves during sleep -Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome -Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome -Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Orphanet:645367 Conus spinal cord lipoma -Orphanet:1487 Cooks syndrome -Orphanet:1488 Cooper-Jabs syndrome -Orphanet:99098 Cor triatriatum dexter -Orphanet:99099 Cor triatriatum sinister -Orphanet:98990 Coralliform cataract -Orphanet:34533 Corneal dystrophy -Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome -Orphanet:137602 Corneal endotheliitis -Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome -Orphanet:199 Cornelia de Lange syndrome -Orphanet:3194 Corneodermatoosseous syndrome -Orphanet:98635 Corneodysgenesis -Orphanet:2041 Coronary arterial fistula -Orphanet:1081 Coronary artery congenital malformation -Orphanet:99087 Coronary ostial stenosis or atresia -Orphanet:99118 Coronary sinus atresia -Orphanet:99117 Coronary sinus stenosis -Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome -Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome -Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome -Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome -Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome -Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation -Orphanet:454887 Corticobasal syndrome -Orphanet:199247 Corticosteroid-binding globulin deficiency -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome -Orphanet:3071 Costello syndrome -Orphanet:201 Cowden syndrome -Orphanet:1508 Coxoauricular syndrome -Orphanet:1509 Coxopodopatellar syndrome -Orphanet:581271 Cramp-fasciculation syndrome -Orphanet:202 Crandall syndrome -Orphanet:1512 Crane-Heise syndrome -Orphanet:98038 Cranial malformation -Orphanet:268820 Cranial meningocele -Orphanet:98518 Cranial nerve and nuclear aplasia -Orphanet:221109 Cranial neuralgia -Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement -Orphanet:1525 Cranio-osteoarthropathy -Orphanet:1513 Craniodiaphyseal dysplasia -Orphanet:1514 Craniodigital-intellectual disability syndrome -Orphanet:1515 Cranioectodermal dysplasia -Orphanet:98650 Craniofacial anomaly with cataract -Orphanet:85168 Craniofacial conodysplasia -Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome -Orphanet:1529 Craniofacial-deafness-hand syndrome -Orphanet:363705 Craniofaciofrontodigital syndrome -Orphanet:1520 Craniofrontonasal dysplasia -Orphanet:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome -Orphanet:50814 Craniolenticulosutural dysplasia -Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type -Orphanet:1522 Craniometaphyseal dysplasia -Orphanet:1524 Craniomicromelic syndrome -Orphanet:54595 Craniopharyngioma -Orphanet:63260 Craniorachischisis -Orphanet:157832 Craniorhiny -Orphanet:98684 Craniostenosis with strabismus -Orphanet:1531 Craniosynostosis -Orphanet:1541 Craniosynostosis, Boston type -Orphanet:2145 Craniosynostosis, Herrmann-Opitz type -Orphanet:1527 Craniosynostosis, Philadelphia type -Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome -Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome -Orphanet:284149 Craniosynostosis-dental anomalies -Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome -Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome -Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome -Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome -Orphanet:1528 Craniotelencephalic dysplasia -Orphanet:79172 Creatine deficiency syndrome -Orphanet:99854 Cree leukoencephalopathy -Orphanet:504 Creeping myiasis -Orphanet:205 Crigler-Najjar syndrome -Orphanet:79234 Crigler-Najjar syndrome type 1 -Orphanet:79235 Crigler-Najjar syndrome type 2 -Orphanet:99827 Crimean-Congo hemorrhagic fever -Orphanet:1545 Crisponi syndrome -Orphanet:1461 Criss-cross heart -Orphanet:2930 Cronkhite-Canada syndrome -Orphanet:2935 Crossed polysyndactyly -Orphanet:207 Crouzon syndrome -Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome -Orphanet:91138 Cryoglobulinemic vasculitis -Orphanet:208650 Cryopyrin-associated periodic syndrome -Orphanet:1546 Cryptococcosis -Orphanet:163708 Cryptogenic late-onset epileptic spasms -Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis -Orphanet:1302 Cryptogenic organizing pneumonia -Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome -Orphanet:98562 Cryptophthalmia -Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome -Orphanet:307766 Curly hair-acral keratoderma-caries syndrome -Orphanet:1552 Currarino syndrome -Orphanet:1553 Curry-Jones syndrome -Orphanet:96253 Cushing disease -Orphanet:189427 Cushing syndrome due to bilateral macronodular adrenocortical disease Orphanet:642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma -Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion -Orphanet:280779 Cutaneous collagenous vasculopathy -Orphanet:423717 Cutaneous larva migrans -Orphanet:79455 Cutaneous mastocytoma -Orphanet:66646 Cutaneous mastocytosis -Orphanet:99983 Cutaneous myiasis -Orphanet:79140 Cutaneous neuroendocrine carcinoma -Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome -Orphanet:439729 Cutaneous polyarteritis nodosa -Orphanet:451607 Cutaneous pseudolymphoma -Orphanet:889 Cutaneous small vessel vasculitis -Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome -Orphanet:209 Cutis laxa -Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies -Orphanet:171719 Cutis laxa-Marfanoid syndrome -Orphanet:1556 Cutis marmorata telangiectatica congenita -Orphanet:466670 Cyanide poisoning -Orphanet:306692 Cyanide-induced parkinsonism-dystonia -Orphanet:2686 Cyclic neutropenia -Orphanet:210 Cyclosporiasis -Orphanet:171886 Cylindrical spirals myopathy -Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome -Orphanet:206470 Cystadenoma of childhood -Orphanet:212 Cystathioninuria -Orphanet:400 Cystic echinococcosis -Orphanet:586 Cystic fibrosis -Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome -Orphanet:2111 Cystic hamartoma of lung and kidney -Orphanet:85136 Cystic leukoencephalopathy without megalencephaly -Orphanet:1560 Cysticercosis -Orphanet:213 Cystinosis -Orphanet:214 Cystinuria -Orphanet:93612 Cystinuria type A -Orphanet:93613 Cystinuria type B -Orphanet:75381 Cystoid macular dystrophy -Orphanet:155835 Cysts and fistulae of the face and oral cavity -Orphanet:94087 Cytophagic histiocytic panniculitis -Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder -Orphanet:2437 Czeizel-Losonci syndrome -Orphanet:356978 D,L-2-hydroxyglutaric aciduria -Orphanet:79315 D-2-hydroxyglutaric aciduria -Orphanet:941 D-glyceric aciduria -Orphanet:300536 DDOST-CDG -Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome -Orphanet:79134 DEND syndrome -Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome -Orphanet:284343 DICER1 tumor-predisposition syndrome -Orphanet:404546 DITRA -Orphanet:91131 DK1-CDG -Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome -Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 -Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 -Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect -Orphanet:447737 DOCK2 deficiency -Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum -Orphanet:79500 DOORS syndrome -Orphanet:86309 DPAGT1-CDG -Orphanet:79322 DPM1-CDG -Orphanet:263494 DPM3-CDG -Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy -Orphanet:464306 DYRK1A-related intellectual disability syndrome -Orphanet:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome -Orphanet:1563 Dahlberg-Borer-Newcomer syndrome -Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome -Orphanet:218 Darier disease -Orphanet:2962 De Barsy syndrome -Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type -Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia -Orphanet:3241 Deafness-craniofacial syndrome -Orphanet:3232 Deafness-ear malformation-facial palsy syndrome -Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome -Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome -Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome -Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome -Orphanet:90646 Deafness-hypogonadism syndrome -Orphanet:94064 Deafness-infertility syndrome -Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type -Orphanet:3226 Deafness-lymphedema-leukemia syndrome -Orphanet:3230 Deafness-oligodontia syndrome -Orphanet:3231 Deafness-onychodystrophy syndrome -Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome -Orphanet:3239 Deafness-vitiligo-achalasia syndrome -Orphanet:99970 Dedifferentiated liposarcoma -Orphanet:397587 Deep dermatophytosis -Orphanet:309778 Defect in V-ATPase -Orphanet:309568 Defect in conserved oligomeric Golgi complex -Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome -Orphanet:180173 Deficient breast volume or number -Orphanet:3202 Dehydrated hereditary stomatocytosis -Orphanet:64748 Dejerine-Sottas syndrome -Orphanet:306686 Delayed encephalopathy due to carbon monoxide poisoning -Orphanet:3034 Delayed membranous cranial ossification -Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome -Orphanet:1627 Deletion 5q35 -Orphanet:231237 Delta-beta-thalassemia -Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 -Orphanet:97353 Dementia pugilistica -Orphanet:283 Demodicidosis -Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy -Orphanet:86903 Dendritic cell sarcoma not otherwise specified -Orphanet:99828 Dengue fever -Orphanet:93571 Dense deposit disease -Orphanet:98456 Dense granule disease -Orphanet:1652 Dent disease -Orphanet:93622 Dent disease type 1 -Orphanet:93623 Dent disease type 2 -Orphanet:1077 Dental ankylosis -Orphanet:101 Dentatorubral pallidoluysian atrophy -Orphanet:1653 Dentin dysplasia -Orphanet:99789 Dentin dysplasia type I -Orphanet:99791 Dentin dysplasia type II -Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome -Orphanet:49042 Dentinogenesis imperfecta -Orphanet:166260 Dentinogenesis imperfecta type 2 -Orphanet:166265 Dentinogenesis imperfecta type 3 -Orphanet:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome -Orphanet:98649 Dentocutaneous disease with cataract -Orphanet:220 Denys-Drash syndrome -Orphanet:1656 Dermatitis herpetiformis -Orphanet:31112 Dermatofibrosarcoma protuberans -Orphanet:1659 Dermatoleukodystrophy -Orphanet:221 Dermatomyositis -Orphanet:1657 Dermatoosteolysis, Kirghizian type -Orphanet:86920 Dermatopathia pigmentosa reticularis -Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome -Orphanet:79377 Dermis disorder -Orphanet:79378 Dermis elastic tissue disorder -Orphanet:79149 Dermochondrocorneal dystrophy -Orphanet:530033 Dermoid or epidermoid cyst of the central nervous system -Orphanet:1660 Dermoodontodysplasia -Orphanet:99688 Dermotrichic syndrome -Orphanet:1425 Desbuquois syndrome -Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions -Orphanet:98909 Desminopathy -Orphanet:873 Desmoid tumor -Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma -Orphanet:83469 Desmoplastic small round cell tumor -Orphanet:251863 Desmoplastic/nodular medulloblastoma -Orphanet:35107 Desmosterolosis -Orphanet:98852 Desquamative interstitial pneumonia -Orphanet:313892 Developmental and speech delay due to SOX5 deficiency -Orphanet:139009 Developmental anomaly of metabolic origin -Orphanet:98553 Developmental defect of the eye -Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency -Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability -Orphanet:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency -Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome -Orphanet:79107 Developmental malformations-deafness-dystonia syndrome -Orphanet:1666 Dextrocardia -Orphanet:1926 Diabetic embryopathy -Orphanet:124 Diamond-Blackfan anemia -Orphanet:275523 Dianzani autoimmune lymphoproliferative disease -Orphanet:66637 Diaphanospondylodysostosis -Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome -Orphanet:527468 Diaphragmatic hernia-short bowel-asplenia syndrome -Orphanet:98043 Diaphragmatic or abdominal wall malformation -Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome -Orphanet:628 Diastrophic dysplasia -Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism -Orphanet:79298 Diazoxide-resistant focal hyperinsulinism -Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency -Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency -Orphanet:276585 Diazoxide-resistant hyperinsulinism -Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism -Orphanet:2195 Dicarboxylic aminoaciduria -Orphanet:180086 Didelphys uterus -Orphanet:370046 Didymosis aplasticosebacea -Orphanet:1672 Diencephalic syndrome -Orphanet:319192 Diencephalic-mesencephalic junction dysplasia -Orphanet:139507 Dietary iron overload disease -Orphanet:1916 Diethylstilbestrol syndrome -Orphanet:90771 Difference of sex development -Orphanet:325620 Difference of sex development of gynecological interest -Orphanet:2983 Difference of sex development-intellectual disability syndrome -Orphanet:146 Differentiated thyroid carcinoma -Orphanet:90060 Diffuse alveolar hemorrhage -Orphanet:251595 Diffuse astrocytoma -Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome -Orphanet:79456 Diffuse cutaneous mastocytosis -Orphanet:220393 Diffuse cutaneous systemic sclerosis -Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia -Orphanet:497188 Diffuse intrinsic pontine glioma -Orphanet:300849 Diffuse large B-cell lymphoma of the central nervous system -Orphanet:300888 Diffuse large B-cell lymphoma with chronic inflammation -Orphanet:252031 Diffuse leptomeningeal melanocytosis -Orphanet:141209 Diffuse lymphatic malformation -Orphanet:2123 Diffuse neonatal hemangiomatosis -Orphanet:307141 Diffuse palmoplantar keratoderma -Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures -Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome -Orphanet:171700 Diffuse panbronchiolitis +Orphanet:658595 DNMT3A-related microcephalic dwarfism +Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome +Orphanet:653722 Digenic Alport syndrome Orphanet:648581 Digenic hemochromatosis -Orphanet:238 Digestive duplication -Orphanet:141071 Digestive duplication cyst of the tongue -Orphanet:98039 Digestive tract malformation -Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy -Orphanet:31828 Digitalis poisoning -Orphanet:226 Dihydropteridine reductase deficiency -Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency -Orphanet:38874 Dihydropyrimidinuria -Orphanet:217604 Dilated cardiomyopathy -Orphanet:66634 Dilated cardiomyopathy with ataxia -Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome -Orphanet:243343 Dimethylglycine dehydrogenase deficiency -Orphanet:227 Diphallia -Orphanet:1679 Diphtheria -Orphanet:128 Diphyllobothriasis -Orphanet:1681 Diprosopus -Orphanet:166291 Dirofilariasis -Orphanet:90281 Discoid lupus erythematosus -Orphanet:99052 Discrete fibromuscular subaortic stenosis -Orphanet:99051 Discrete fixed membranous subaortic stenosis -Orphanet:90394 Discrete papular lichen myxedematosus -Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency -Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature -Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature -Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature -Orphanet:2412 Dislocation of the hip-dysmorphism syndrome -Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis -Orphanet:309469 Disorder of O-mannosylglycan synthesis -Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis -Orphanet:309450 Disorder of O-xylosylglycan synthesis -Orphanet:79166 Disorder of amino acid absorption and transport -Orphanet:79062 Disorder of amino acid and other organic acid metabolism -Orphanet:391381 Disorder of asparagine metabolism -Orphanet:308407 Disorder of beta and omega amino acid metabolism -Orphanet:79168 Disorder of bile acid synthesis -Orphanet:309816 Disorder of bilirubin metabolism and excretion -Orphanet:79214 Disorder of biogenic amine metabolism and transport -Orphanet:79197 Disorder of branched-chain amino acid metabolism -Orphanet:309001 Disorder of carbohydrate absorption and transport -Orphanet:79161 Disorder of carbohydrate metabolism -Orphanet:309130 Disorder of carnitine cycle and carnitine transport -Orphanet:309830 Disorder of catecholamine synthesis -Orphanet:79171 Disorder of cobalamin metabolism and transport -Orphanet:309839 Disorder of copper metabolism -Orphanet:79200 Disorder of energy metabolism -Orphanet:309115 Disorder of fatty acid oxidation and ketogenesis -Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism -Orphanet:285657 Disorder of folate metabolism and transport -Orphanet:308463 Disorder of fructose metabolism -Orphanet:309505 Disorder of fucoglycosan synthesis -Orphanet:308467 Disorder of galactose metabolism -Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism -Orphanet:289841 Disorder of glutamine metabolism -Orphanet:79179 Disorder of glycerol metabolism -Orphanet:308459 Disorder of glycolysis -Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation -Orphanet:308998 Disorder of glyoxylate metabolism -Orphanet:79181 Disorder of histidine metabolism -Orphanet:309842 Disorder of iron metabolism and transport -Orphanet:79183 Disorder of ketolysis -Orphanet:438072 Disorder of keton body transport -Orphanet:309028 Disorder of lipid absorption and transport -Orphanet:309005 Disorder of lipid metabolism -Orphanet:289832 Disorder of lysine and hydroxylysine metabolism -Orphanet:79207 Disorder of lysosomal amino acid transport -Orphanet:309340 Disorder of lysosomal-related organelles -Orphanet:309848 Disorder of magnesium transport -Orphanet:309851 Disorder of manganese transport -Orphanet:352728 Disorder of melanin metabolism -Orphanet:309824 Disorder of metabolite absorption and transport -Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism -Orphanet:309836 Disorder of mineral absorption and transport -Orphanet:309526 Disorder of multiple glycosylation -Orphanet:79169 Disorder of neurotransmitter metabolism and transport -Orphanet:308451 Disorder of neutral amino acid transport -Orphanet:289869 Disorder of ornithine metabolism -Orphanet:79185 Disorder of ornithine or proline metabolism -Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport -Orphanet:79186 Disorder of pentose phosphate metabolism -Orphanet:79187 Disorder of peptide metabolism -Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism -Orphanet:284814 Disorder of phenylalanine metabolism -Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis -Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement -Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -Orphanet:3276 Disorder of plasmalogens biosynthesis -Orphanet:309813 Disorder of porphyrin and heme metabolism -Orphanet:289866 Disorder of proline metabolism -Orphanet:309347 Disorder of protein N-glycosylation -Orphanet:309447 Disorder of protein O-glycosylation -Orphanet:309819 Disorder of pterin metabolism -Orphanet:79191 Disorder of purine metabolism -Orphanet:79224 Disorder of purine or pyrimidine metabolism -Orphanet:79192 Disorder of pyridoxine metabolism -Orphanet:79193 Disorder of pyrimidine metabolism -Orphanet:79194 Disorder of serine or glycine metabolism -Orphanet:309319 Disorder of sialic acid metabolism -Orphanet:79196 Disorder of the gamma-glutamyl cycle -Orphanet:298644 Disorder of thiamine metabolism and transport -Orphanet:289829 Disorder of tryptophan metabolism -Orphanet:284818 Disorder of tyrosine metabolism -Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification -Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport -Orphanet:309845 Disorder of zinc metabolism and transport -Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema Orphanet:519337 Disorder with optic nerve compression -Orphanet:440701 Disorders of pentose/polyol metabolism -Orphanet:289098 Disorders of vitamin D metabolism -Orphanet:345 Dissecting cellulitis of the scalp -Orphanet:71274 Disseminated peritoneal leiomyomatosis -Orphanet:79152 Disseminated superficial actinic porokeratosis -Orphanet:261222 Distal 16p11.2 microdeletion syndrome -Orphanet:319171 Distal 17p13.1 microdeletion syndrome -Orphanet:261257 Distal 17p13.3 microdeletion syndrome -Orphanet:261330 Distal 22q11.2 microdeletion syndrome -Orphanet:261337 Distal 22q11.2 microduplication syndrome -Orphanet:254351 Distal 7q11.23 microdeletion syndrome -Orphanet:261102 Distal 7q11.23 microduplication syndrome -Orphanet:293939 Distal Xq28 microduplication syndrome -Orphanet:399096 Distal anoctaminopathy -Orphanet:97120 Distal arthrogryposis -Orphanet:1146 Distal arthrogryposis type 1 -Orphanet:251515 Distal arthrogryposis type 10 -Orphanet:329457 Distal arthrogryposis type 5D -Orphanet:1580 Distal deletion 10p -Orphanet:96148 Distal deletion 10q -Orphanet:280325 Distal deletion 12p -Orphanet:96149 Distal deletion 12q -Orphanet:1590 Distal deletion 13q -Orphanet:96150 Distal deletion 14q -Orphanet:1596 Distal deletion 15q -Orphanet:1597 Distal deletion 17q -Orphanet:96129 Distal deletion 19p -Orphanet:36367 Distal deletion 1q -Orphanet:1620 Distal deletion 3p -Orphanet:96145 Distal deletion 4q -Orphanet:96125 Distal deletion 6p -Orphanet:96126 Distal deletion 7p -Orphanet:1642 Distal deletion 9p -Orphanet:96102 Distal duplication 10q -Orphanet:96103 Distal duplication 11q -Orphanet:96105 Distal duplication 13q -Orphanet:1705 Distal duplication 14q -Orphanet:1707 Distal duplication 15q -Orphanet:96106 Distal duplication 16q -Orphanet:3379 Distal duplication 17q -Orphanet:1716 Distal duplication 18q -Orphanet:1717 Distal duplication 19q -Orphanet:96069 Distal duplication 1p36 -Orphanet:96107 Distal duplication 20q -Orphanet:96109 Distal duplication 22q -Orphanet:96070 Distal duplication 2p -Orphanet:96094 Distal duplication 2q -Orphanet:96071 Distal duplication 3p -Orphanet:96096 Distal duplication 4q -Orphanet:96097 Distal duplication 5q -Orphanet:1745 Distal duplication 6p -Orphanet:96098 Distal duplication 6q -Orphanet:96074 Distal duplication 7p -Orphanet:96100 Distal duplication 8q -Orphanet:96101 Distal duplication 9q -Orphanet:53739 Distal hereditary motor neuropathy -Orphanet:139518 Distal hereditary motor neuropathy type 1 -Orphanet:139525 Distal hereditary motor neuropathy type 2 -Orphanet:139536 Distal hereditary motor neuropathy type 5 -Orphanet:139589 Distal hereditary motor neuropathy type 7 -Orphanet:139552 Distal hereditary motor neuropathy, Jerash type -Orphanet:1307 Distal limb deficiencies-micrognathia syndrome -Orphanet:1636 Distal monosomy 7q36 -Orphanet:599 Distal myopathy -Orphanet:178400 Distal myopathy with anterior tibial onset -Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement -Orphanet:488650 Distal myopathy, Tateyama type -Orphanet:603 Distal myopathy, Welander type -Orphanet:98911 Distal myotilinopathy -Orphanet:399103 Distal nebulin myopathy -Orphanet:18 Distal renal tubular acidosis -Orphanet:93610 Distal renal tubular acidosis with anemia -Orphanet:139547 Distal spinal muscular atrophy type 3 -Orphanet:3248 Distal symphalangism -Orphanet:314588 Distal triplication 15q -Orphanet:1685 Distomatosis -Orphanet:3262 Dobrow syndrome -Orphanet:231226 Dominant beta-thalassemia -Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis -Orphanet:2143 Donnai-Barrow syndrome -Orphanet:255 Dopa-responsive dystonia -Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency -Orphanet:230 Dopamine beta-hydroxylase deficiency Orphanet:645362 Dorsal spinal cord lipoma -Orphanet:3427 Double outlet left ventricle -Orphanet:3426 Double outlet right ventricle -Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy -Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect -Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect -Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis -Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect -Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome -Orphanet:95474 Double-orifice mitral valve -Orphanet:79145 Dowling-Degos disease -Orphanet:870 Down syndrome -Orphanet:231 Dracunculiasis -Orphanet:33069 Dravet syndrome -Orphanet:264978 Drug or radiation exposure-related interstitial lung disease -Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms -Orphanet:90037 Drug-induced autoimmune hemolytic anemia -Orphanet:90157 Drug-induced localized lipodystrophy -Orphanet:231111 Drug-induced lupus erythematosus -Orphanet:251325 Drug-induced vasculitis -Orphanet:97368 Drug-related renal tubular dysgenesis -Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome -Orphanet:233 Duane retraction syndrome -Orphanet:529574 Duane retraction syndrome with congenital deafness -Orphanet:234 Dubin-Johnson syndrome -Orphanet:235 Dubowitz syndrome -Orphanet:98896 Duchenne muscular dystrophy -Orphanet:1203 Duodenal atresia -Orphanet:91357 Duplication of the esophagus -Orphanet:314621 Duplication of the pituitary gland -Orphanet:237 Duplication of urethra -Orphanet:97339 Dural sinus malformation -Orphanet:239 Dyggve-Melchior-Clausen disease -Orphanet:412 Dysbetalipoproteinemia -Orphanet:1765 Dyschondrosteosis-nephritis syndrome -Orphanet:41 Dyschromatosis symmetrica hereditaria -Orphanet:241 Dyschromatosis universalis hereditaria -Orphanet:251946 Dysembryoplastic neuroepithelial tumor -Orphanet:1766 Dysequilibrium syndrome -Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 -Orphanet:1775 Dyskeratosis congenita -Orphanet:1779 Dysmorphism-cleft palate-loose skin syndrome -Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome -Orphanet:2104 Dysmorphism-pectus carinatum-joint laxity syndrome -Orphanet:2282 Dysmorphism-short stature-deafness-difference of sex development syndrome -Orphanet:1782 Dysosteosclerosis -Orphanet:364559 Dysostosis -Orphanet:404568 Dysostosis of genetic origin -Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature -Orphanet:69028 Dysostosis with brachydactyly -Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations -Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations -Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs -Orphanet:364571 Dysostosis with limb and face anomalies as a major feature -Orphanet:364568 Dysostosis with limb anomaly as a major feature -Orphanet:93453 Dysostosis with predominant craniofacial involvement -Orphanet:93454 Dysostosis with predominant vertebral and costal involvement -Orphanet:1798 Dysostosis, Stanescu type -Orphanet:99082 Dysphagia lusoria -Orphanet:1822 Dysplasia epiphysealis hemimelica -Orphanet:168621 Dysplasia of head of femur, Meyer type -Orphanet:646139 Dysplastic cortical hyperostosis -Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type -Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Orphanet:645273 Dysraphic spinal cord lipoma Orphanet:645193 Dysraphism with stalk -Orphanet:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome -Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type -Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type -Orphanet:85198 Dysspondyloenchondromatosis -Orphanet:210571 Dystonia 16 -Orphanet:589618 Dystonia 28 -Orphanet:412217 Dystonia-aphonia syndrome -Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome -Orphanet:303 Dystrophic epidermolysis bullosa -Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa -Orphanet:199343 EAST syndrome -Orphanet:293936 EDICT syndrome -Orphanet:1896 EEC syndrome -Orphanet:98609 EEC syndrome and related disorders -Orphanet:1897 EEM syndrome -Orphanet:620368 EGF-related primary hypomagnesemia with intellectual disability -Orphanet:485418 EMILIN-1-related connective tissue disease -Orphanet:611223 EN1-related dorsoventral syndrome -Orphanet:568065 EPHB4-related lymphatic-related hydrops fetalis -Orphanet:496751 EVEN-plus syndrome -Orphanet:40923 Eales disease -Orphanet:2554 Ear-patella-short stature syndrome -Orphanet:1934 Early infantile epileptic encephalopathy -Orphanet:1935 Early myoclonic encephalopathy -Orphanet:324290 Early-onset Lafora body disease -Orphanet:98890 Early-onset X-linked optic atrophy -Orphanet:98988 Early-onset anterior polar cataract -Orphanet:98539 Early-onset ataxia with dementia -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome -Orphanet:1020 Early-onset autosomal dominant Alzheimer disease -Orphanet:556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia -Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes -Orphanet:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome -Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation -Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome -Orphanet:556030 Early-onset familial hypoaldosteronism -Orphanet:256 Early-onset generalized limb-onset dystonia -Orphanet:441452 Early-onset lamellar cataract -Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy -Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome -Orphanet:91492 Early-onset non-syndromic cataract -Orphanet:98991 Early-onset nuclear cataract -Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome -Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome -Orphanet:98992 Early-onset partial cataract -Orphanet:98993 Early-onset posterior polar cataract -Orphanet:441447 Early-onset posterior subcapsular cataract -Orphanet:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome -Orphanet:1943 Early-onset progressive encephalopathy with migrant continuous myoclonus -Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome -Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome -Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome -Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome -Orphanet:98985 Early-onset sutural cataract -Orphanet:98995 Early-onset zonular cataract -Orphanet:391320 East Texas bleeding disorder -Orphanet:83594 Eastern equine encephalitis -Orphanet:166418 Eating reflex epilepsy -Orphanet:319218 Ebola hemorrhagic fever -Orphanet:1880 Ebstein malformation of the tricuspid valve -Orphanet:99102 Ectasia of the left atrial appendage -Orphanet:99101 Ectasia of the right atrial appendage -Orphanet:79373 Ectodermal dysplasia syndrome -Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type -Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type -Orphanet:1806 Ectodermal dysplasia-blindness syndrome -Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome -Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome -Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome -Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome -Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome -Orphanet:448270 Ectopia cordis -Orphanet:1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome -Orphanet:231632 Ectopic aldosterone-producing tumor -Orphanet:498477 Ectrodactyly with and without other manifestations -Orphanet:1892 Ectrodactyly-polydactyly syndrome -Orphanet:1895 Edinburgh malformation syndrome -Orphanet:98249 Ehlers-Danlos syndrome -Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome -Orphanet:1902 Ehrlichiosis -Orphanet:79106 Eiken syndrome -Orphanet:97214 Eisenmenger syndrome -Orphanet:228240 Elastoderma -Orphanet:228243 Elastofibroma dorsi -Orphanet:228254 Elastoma -Orphanet:79148 Elastosis perforans serpiginosa -Orphanet:289 Ellis Van Creveld syndrome -Orphanet:96170 Emanuel syndrome -Orphanet:180226 Embryonal carcinoma -Orphanet:48736 Embryonal carcinoma of the central nervous system -Orphanet:99757 Embryonal rhabdomyosarcoma -Orphanet:251852 Embryonal tumor of neuroepithelial tissue -Orphanet:261 Emery-Dreifuss muscular dystrophy -Orphanet:1927 Emery-Nelson syndrome -Orphanet:1031 Enamel-renal syndrome -Orphanet:97275 Encephalitis -Orphanet:83600 Encephalitis lethargica -Orphanet:269190 Encephaloclastic disorder -Orphanet:2396 Encephalocraniocutaneous lipomatosis -Orphanet:527276 Encephalopathy due to mitochondrial and peroxisomal fission defect -Orphanet:139406 Encephalopathy due to prosaposin deficiency -Orphanet:833 Encephalopathy due to sulfite oxidase deficiency -Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome -Orphanet:99075 Encircling double aortic arch -Orphanet:636955 Endemic pemphigus foliaceus -Orphanet:2022 Endocardial fibroelastosis -Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome -Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature -Orphanet:641613 Endogenous Cushing syndrome -Orphanet:213711 Endometrial stromal sarcoma -Orphanet:454723 Endometrioid carcinoma of ovary -Orphanet:199323 Endophthalmitis -Orphanet:2790 Endosteal hyperostosis, Worth type -Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome -Orphanet:225696 Energy metabolism disorder with epilepsy -Orphanet:1937 Eng-Strom syndrome -Orphanet:60015 Enlarged parietal foramina -Orphanet:83620 Enteric anendocrinosis -Orphanet:86880 Enteropathy-associated T-cell lymphoma -Orphanet:85438 Enthesitis-related juvenile idiopathic arthritis -Orphanet:449566 Eosinophilic angiocentric fibrosis -Orphanet:402035 Eosinophilic colitis -Orphanet:3165 Eosinophilic fasciitis -Orphanet:2070 Eosinophilic gastroenteritis -Orphanet:183 Eosinophilic granulomatosis with polyangiitis -Orphanet:301 Ependymal tumor -Orphanet:251880 Ependymoblastoma -Orphanet:251636 Ependymoma -Orphanet:99169 Epiblepharon -Orphanet:231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome -Orphanet:83314 Epidemic typhus -Orphanet:79362 Epidermal appendage anomaly -Orphanet:79353 Epidermal disease -Orphanet:35125 Epidermal nevus syndrome -Orphanet:302 Epidermodysplasia verruciformis -Orphanet:46487 Epidermolysis bullosa acquisita -Orphanet:304 Epidermolysis bullosa simplex -Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency -Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency -Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia -Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema -Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement -Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation -Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy -Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia -Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement -Orphanet:497737 Epidermolytic nevus -Orphanet:2199 Epidermolytic palmoplantar keratoderma -Orphanet:141077 Epignathus -Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature -Orphanet:166463 Epilepsy syndrome -Orphanet:86911 Epilepsy with myoclonic absences -Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome -Orphanet:1951 Epilepsy-telangiectasia syndrome -Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination -Orphanet:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome -Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome -Orphanet:399329 Epiphysiolysis of the hip -Orphanet:37612 Episodic ataxia type 1 -Orphanet:79135 Episodic ataxia type 3 -Orphanet:79136 Episodic ataxia type 4 -Orphanet:211067 Episodic ataxia type 5 -Orphanet:209967 Episodic ataxia type 6 -Orphanet:209970 Episodic ataxia type 7 -Orphanet:401953 Episodic ataxia with slurred speech -Orphanet:98956 Epithelial basement membrane dystrophy -Orphanet:293381 Epithelial recurrent erosion dystrophy -Orphanet:157791 Epithelioid hemangioendothelioma -Orphanet:293202 Epithelioid sarcoma -Orphanet:254698 Epithelioid trophoblastic tumor -Orphanet:289651 Epstein-Barr Virus-associated carcinoma -Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor -Orphanet:289638 Epstein-Barr Virus-related tumor -Orphanet:313920 Epstein-Barr virus-associated gastric carcinoma -Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly -Orphanet:35687 Erdheim-Chester disease -Orphanet:999 Ermine phenotype -Orphanet:222 Erosive pustular dermatosis of the scalp -Orphanet:90000 Erythema elevatum diutinum -Orphanet:502499 Erythema multiforme major -Orphanet:231031 Erythema palmare hereditarium -Orphanet:308473 Erythrocyte galactose epimerase deficiency -Orphanet:314 Erythroderma desquamativum -Orphanet:79355 Erythrokeratoderma -Orphanet:315 Erythrokeratoderma ''en cocardes'' -Orphanet:308166 Erythrokeratoderma variabilis progressiva -Orphanet:317 Erythrokeratodermia variabilis -Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome -Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy -Orphanet:1199 Esophageal atresia -Orphanet:100047 Esophageal duplication cyst -Orphanet:88993 Esophageal malformation -Orphanet:2056 Essential fructosuria -Orphanet:98981 Essential iris atrophy -Orphanet:3318 Essential thrombocythemia -Orphanet:1957 Esthesioneuroblastoma -Orphanet:785 Estrogen resistance syndrome -Orphanet:31826 Ethylene glycol poisoning -Orphanet:51188 Ethylmalonic encephalopathy -Orphanet:99172 Euryblepharon -Orphanet:466682 Euthyroid Graves orbitopathy -Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia -Orphanet:1959 Evans syndrome -Orphanet:180170 Excess breast volume or number -Orphanet:254843 Exercise intolerance with lactic acidosis -Orphanet:165991 Exercise-induced hyperinsulinism -Orphanet:466650 Exercise-induced malignant hyperthermia -Orphanet:289586 Exfoliative ichthyosis -Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome -Orphanet:322 Exstrophy-epispadias complex -Orphanet:440724 Extensive peripapillary myelinated nerve fibers -Orphanet:3294 Extensor tendons of finger anomalies -Orphanet:141074 External auditory canal aplasia/hypoplasia -Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome -Orphanet:494424 Extracranial carotid artery aneurysm -Orphanet:66662 Extracutaneous mastocytoma -Orphanet:182127 Extragonadal germinoma -Orphanet:883 Extragonadal teratoma -Orphanet:280811 Extralobar congenital pulmonary sequestration -Orphanet:2800 Extramammary Paget disease +Orphanet:658946 Early-onset autoimmune disorder due to DOCK11 partial deficiency +Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency +Orphanet:656417 Embryonal tumor with multilayered rosettes Orphanet:645297 Extramedullary conus spinal cord lipoma -Orphanet:100022 Extramedullary soft tissue plasmacytoma -Orphanet:100002 Extraneural perineurioma -Orphanet:86879 Extranodal nasal NK/T cell lymphoma -Orphanet:137820 Extrapelvic endometriosis -Orphanet:370334 Extraskeletal Ewing sarcoma -Orphanet:209916 Extraskeletal myxoid chondrosarcoma -Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome -Orphanet:251927 Extraventricular neurocytoma -Orphanet:3172 Eyebrow duplication-syndactyly syndrome -Orphanet:98564 Eyelid border anomaly -Orphanet:617919 F12-associated cold autoinflammatory syndrome -Orphanet:100054 F12-related hereditary angioedema with normal C1Inh -Orphanet:306550 FADD-related immunodeficiency -Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy -Orphanet:2492 FATCO syndrome -Orphanet:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome -Orphanet:93932 FG syndrome type 1 -Orphanet:313855 FGFR2-related bent bone dysplasia -Orphanet:93420 FGFR3-related chondrodysplasia -Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 -Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia -Orphanet:2045 FLOTCH syndrome -Orphanet:561854 FOXG1 syndrome -Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion -Orphanet:598164 FOXG1 syndrome due to intragenic alteration -Orphanet:100973 FRAXE intellectual disability -Orphanet:100974 FRAXF syndrome -Orphanet:247790 FTH1-related iron overload -Orphanet:324 Fabry disease -Orphanet:156230 Facial arteriovenous malformation -Orphanet:141229 Facial cleft -Orphanet:141051 Facial dermoid cyst -Orphanet:480701 Facial diplegia with paresthesias -Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome -Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion -Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation -Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome -Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome -Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome -Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome -Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome -Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome -Orphanet:85162 Facial onset sensory and motor neuronopathy -Orphanet:1973 Faciocardiorenal syndrome -Orphanet:269 Facioscapulohumeral dystrophy -Orphanet:599579 Factor V Amsterdam bleeding disorder -Orphanet:600194 Factor V Atlanta bleeding disorder -Orphanet:599519 Factor V short isoforms-related bleeding disorder -Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome -Orphanet:280397 Familial Alzheimer-like prion disease -Orphanet:481662 Familial Chilblain lupus -Orphanet:535458 Familial GPIHBP1 deficiency -Orphanet:79293 Familial LCAT deficiency -Orphanet:342 Familial Mediterranean fever -Orphanet:86 Familial abdominal aortic aneurysm -Orphanet:88619 Familial acute necrotizing encephalopathy -Orphanet:733 Familial adenomatous polyposis -Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion -Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone -Orphanet:164736 Familial advanced sleep-phase syndrome -Orphanet:98880 Familial afibrinogenemia -Orphanet:228277 Familial anetoderma -Orphanet:199279 Familial angiolipomatosis -Orphanet:229 Familial aortic dissection -Orphanet:530849 Familial apolipoprotein A5 deficiency -Orphanet:309020 Familial apolipoprotein C-II deficiency -Orphanet:2295 Familial articular hypermobility syndrome -Orphanet:334 Familial atrial fibrillation -Orphanet:615 Familial atrial myxoma -Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease -Orphanet:404560 Familial atypical multiple mole melanoma syndrome -Orphanet:86820 Familial avascular necrosis of femoral head -Orphanet:2841 Familial benign chronic pemphigus -Orphanet:1551 Familial benign copper deficiency -Orphanet:363989 Familial benign flecked retina -Orphanet:402075 Familial bicuspid aortic valve -Orphanet:1416 Familial calcium pyrophosphate deposition -Orphanet:1768 Familial caudal dysgenesis -Orphanet:464760 Familial cavitary optic disc anomaly -Orphanet:221061 Familial cerebral cavernous malformation -Orphanet:231160 Familial cerebral saccular aneurysm -Orphanet:36382 Familial cervical artery dissection -Orphanet:444490 Familial chylomicronemia syndrome -Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication -Orphanet:293144 Familial clubfoot due to 5q31 microdeletion -Orphanet:293150 Familial clubfoot due to PITX1 point mutation -Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies -Orphanet:47045 Familial cold urticaria -Orphanet:440437 Familial colorectal cancer Type X -Orphanet:238722 Familial congenital mirror movements -Orphanet:451612 Familial congenital nasolacrimal duct obstruction -Orphanet:91498 Familial congenital palsy of trochlear nerve -Orphanet:319189 Familial cortical myoclonus -Orphanet:53296 Familial cutaneous collagenoma -Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome -Orphanet:211 Familial cylindromatosis -Orphanet:1799 Familial developmental dysphasia -Orphanet:85169 Familial digital arthropathy-brachydactyly -Orphanet:217607 Familial dilated cardiomyopathy -Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation -Orphanet:75376 Familial drusen -Orphanet:1764 Familial dysautonomia -Orphanet:98881 Familial dysfibrinogenemia -Orphanet:324588 Familial dyskinesia and facial myokymia -Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies -Orphanet:391384 Familial episodic pain syndrome -Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement -Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement -Orphanet:85195 Familial expansile osteolysis -Orphanet:891 Familial exudative vitreoretinopathy -Orphanet:98820 Familial focal epilepsy with variable foci -Orphanet:464756 Familial gastric type 1 neuroendocrine tumor -Orphanet:231040 Familial generalized lentiginosis -Orphanet:99819 Familial gestational hyperthyroidism -Orphanet:361 Familial glucocorticoid deficiency -Orphanet:540 Familial hemophagocytic lymphohistiocytosis -Orphanet:403 Familial hyperaldosteronism type I -Orphanet:404 Familial hyperaldosteronism type II -Orphanet:251274 Familial hyperaldosteronism type III -Orphanet:642671 Familial hyperaldosteronism type IV -Orphanet:238475 Familial hypercholanemia -Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency -Orphanet:276525 Familial hyperinsulinism -Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome -Orphanet:397685 Familial hyperprolactinemia -Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor -Orphanet:427 Familial hypoaldosteronism -Orphanet:405 Familial hypocalciuric hypercalcemia -Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 -Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 -Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 -Orphanet:248408 Familial hypodysfibrinogenemia -Orphanet:101041 Familial hypofibrinogenemia -Orphanet:1677 Familial idiopathic dilatation of the right atrium -Orphanet:225154 Familial infantile bilateral striatal necrosis -Orphanet:352582 Familial infantile myoclonic epilepsy -Orphanet:508410 Familial intestinal malrotation -Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia -Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form -Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form -Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form -Orphanet:2678 Familial isolated café-au-lait macules -Orphanet:295014 Familial isolated clinodactyly of fingers -Orphanet:101351 Familial isolated congenital asplenia -Orphanet:154 Familial isolated dilated cardiomyopathy -Orphanet:99879 Familial isolated hyperparathyroidism -Orphanet:2238 Familial isolated hypoparathyroidism -Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland -Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion -Orphanet:314777 Familial isolated pituitary adenoma -Orphanet:75249 Familial isolated restrictive cardiomyopathy -Orphanet:411788 Familial isolated trichomegaly -Orphanet:180176 Familial juvenile hypertrophy of the breast -Orphanet:493 Familial keratoacanthoma -Orphanet:535453 Familial lipase maturation factor 1 deficiency -Orphanet:309015 Familial lipoprotein lipase deficiency -Orphanet:768 Familial long QT syndrome -Orphanet:401942 Familial median cleft of the upper and lower lips -Orphanet:99361 Familial medullary thyroid carcinoma -Orphanet:618 Familial melanoma -Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures -Orphanet:741 Familial mitral valve prolapse -Orphanet:495930 Familial monosomy 7 syndrome -Orphanet:276399 Familial multinodular goiter -Orphanet:538756 Familial multiple discoid fibromas -Orphanet:199276 Familial multiple lipomatosis -Orphanet:263662 Familial multiple meningioma -Orphanet:624 Familial multiple nevi flammei -Orphanet:867 Familial multiple trichoepithelioma -Orphanet:922 Familial nasal acilia -Orphanet:319494 Familial nonmedullary thyroid carcinoma -Orphanet:306658 Familial normophosphatemic tumoral calcinosis -Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism -Orphanet:569 Familial or sporadic hemiplegic migraine -Orphanet:435329 Familial ossifying fibroma -Orphanet:251262 Familial osteochondritis dissecans -Orphanet:2769 Familial osteodysplasia, Anderson type -Orphanet:1333 Familial pancreatic carcinoma -Orphanet:319487 Familial papillary or follicular thyroid carcinoma -Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia -Orphanet:97 Familial paroxysmal ataxia -Orphanet:309 Familial partial epilepsy -Orphanet:98306 Familial partial lipodystrophy -Orphanet:2348 Familial partial lipodystrophy, Dunnigan type -Orphanet:79084 Familial partial lipodystrophy, Köbberling type -Orphanet:466729 Familial patent arterial duct -Orphanet:3000 Familial peripheral male-limited precocious puberty -Orphanet:71290 Familial platelet disorder with associated myeloid malignancy -Orphanet:99810 Familial porencephaly -Orphanet:443062 Familial porphyria cutanea tarda -Orphanet:2207 Familial primary hyperparathyroidism -Orphanet:353220 Familial primary localized cutaneous amyloidosis -Orphanet:871 Familial progressive cardiac conduction defect -Orphanet:280628 Familial progressive hyper- and hypopigmentation -Orphanet:79146 Familial progressive hyperpigmentation -Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome -Orphanet:1331 Familial prostate cancer -Orphanet:90044 Familial pseudohyperkalemia -Orphanet:2989 Familial pterygium of the conjunctiva -Orphanet:79147 Familial reactive perforating collagenosis -Orphanet:2809 Familial recurrent peripheral facial palsy -Orphanet:69076 Familial renal glucosuria -Orphanet:217635 Familial restrictive cardiomyopathy -Orphanet:284247 Familial retinal arterial macroaneurysm -Orphanet:169163 Familial scaphocephaly syndrome -Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type -Orphanet:481986 Familial schizencephaly -Orphanet:51083 Familial short QT syndrome -Orphanet:166282 Familial sick sinus syndrome -Orphanet:2903 Familial spontaneous pneumothorax -Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency -Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness -Orphanet:2456 Familial supernumerary nipples -Orphanet:370034 Familial syringomyelia -Orphanet:98819 Familial temporal lobe epilepsy -Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection -Orphanet:71493 Familial thrombocytosis -Orphanet:3324 Familial thrombomodulin anomalies -Orphanet:93953 Familial thyroglossal duct cyst -Orphanet:95716 Familial thyroid dyshormonogenesis -Orphanet:53715 Familial tumoral calcinosis -Orphanet:289365 Familial vesicoureteral reflux -Orphanet:2604 Familial visceral myopathy -Orphanet:84 Fanconi anemia -Orphanet:2088 Fanconi-Bickel syndrome -Orphanet:333 Farber disease -Orphanet:99906 Farmer's lung disease -Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease -Orphanet:466 Fatal familial insomnia -Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency -Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy -Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria -Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 -Orphanet:391343 Fatal post-viral neurodegenerative disorder -Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration -Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency -Orphanet:163703 Febrile infection-related epilepsy syndrome -Orphanet:1305 Feingold syndrome -Orphanet:391641 Feingold syndrome type 1 -Orphanet:391646 Feingold syndrome type 2 -Orphanet:47612 Felty syndrome -Orphanet:400025 Female infertility due to an implantation defect of genetic origin -Orphanet:488191 Female infertility due to oocyte meiotic arrest -Orphanet:404466 Female infertility due to zona pellucida defect -Orphanet:101039 Female restricted epilepsy with intellectual disability -Orphanet:1987 Femoral agenesis/hypoplasia -Orphanet:1988 Femoral-facial syndrome -Orphanet:2019 Femur-fibula-ulna complex -Orphanet:397922 Ferro-cerebro-cutaneous syndrome -Orphanet:648562 Ferroportin Disease -Orphanet:85212 Fetal Gaucher disease -Orphanet:994 Fetal akinesia deformation sequence -Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome -Orphanet:1915 Fetal alcohol syndrome -Orphanet:853 Fetal and neonatal alloimmune thrombocytopenia -Orphanet:370068 Fetal anticonvulsant syndrome -Orphanet:370076 Fetal carbamazepine syndrome -Orphanet:294 Fetal cytomegalovirus syndrome -Orphanet:465824 Fetal encasement syndrome -Orphanet:1912 Fetal hydantoin syndrome -Orphanet:1910 Fetal iodine syndrome -Orphanet:284362 Fetal lung interstitial tumor -Orphanet:1917 Fetal methylmercury syndrome -Orphanet:1918 Fetal minoxidil syndrome -Orphanet:295 Fetal parvovirus syndrome -Orphanet:1913 Fetal trimethadione syndrome -Orphanet:1906 Fetal valproate spectrum disorder -Orphanet:464724 Fever-associated acute infantile liver failure syndrome -Orphanet:251601 Fibrillary astrocytoma -Orphanet:477650 Fibroblastic rheumatism -Orphanet:2021 Fibrochondrogenesis -Orphanet:337 Fibrodysplasia ossificans progressiva -Orphanet:555434 Fibrohistiocytic inflammatory pseudotumor of the liver -Orphanet:401920 Fibrolamellar hepatocellular carcinoma +Orphanet:658590 Eyelid sebaceous carcinoma +Orphanet:658909 Fasciolopsiasis Orphanet:645279 Fibrolipomatous filum anomaly -Orphanet:84090 Fibronectin glomerulopathy Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis -Orphanet:2030 Fibrosarcoma -Orphanet:621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome -Orphanet:249 Fibrous dysplasia of bone -Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome -Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome -Orphanet:1118 Fibular aplasia-ectrodactyly syndrome -Orphanet:1757 Fibular dimelia-diplopodia syndrome -Orphanet:93323 Fibular hemimelia -Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome -Orphanet:93425 Filamin-related bone disorder -Orphanet:2034 Filariasis -Orphanet:3255 Filippi syndrome -Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome -Orphanet:97232 Fingerprint body myopathy -Orphanet:399086 Finnish upper limb-onset distal myopathy -Orphanet:141013 First branchial cleft anomaly -Orphanet:79292 Fish-eye disease -Orphanet:293812 Fixed drug eruption -Orphanet:3092 Fixed subaortic stenosis -Orphanet:1968 Flat face-microstomia-ear anomaly syndrome -Orphanet:98970 Fleck corneal dystrophy -Orphanet:2044 Floating-Harbor syndrome -Orphanet:83451 Florid cemento-osseous dysplasia -Orphanet:2047 Flynn-Aird syndrome -Orphanet:308013 Focal acral hyperkeratosis -Orphanet:2092 Focal dermal hypoplasia -Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation -Orphanet:398166 Focal facial dermal dysplasia -Orphanet:79133 Focal facial dermal dysplasia type I -Orphanet:398173 Focal facial dermal dysplasia type II -Orphanet:1807 Focal facial dermal dysplasia type III -Orphanet:398189 Focal facial dermal dysplasia type IV -Orphanet:48918 Focal myositis -Orphanet:2200 Focal palmoplantar and gingival keratoderma -Orphanet:307837 Focal palmoplantar keratoderma -Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses -Orphanet:443804 Focal stiff limb syndrome -Orphanet:1866 Focal, segmental or multifocal dystonia -Orphanet:79093 Foix-Alajouanine syndrome -Orphanet:2048 Foix-Chavany-Marie syndrome -Orphanet:79097 Folinic acid-responsive seizures -Orphanet:300552 Follicular cholangitis and pancreatitis -Orphanet:86902 Follicular dendritic cell sarcoma -Orphanet:545 Follicular lymphoma -Orphanet:178512 Folliculotropic mycosis fungoides -Orphanet:228371 Foodborne botulism -Orphanet:51208 Formiminoglutamic aciduria -Orphanet:3219 Fountain syndrome -Orphanet:141037 Fourth branchial cleft anomaly -Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome -Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome -Orphanet:2795 Fowler urethral sphincter dysfunction syndrome -Orphanet:221126 Fowler vasculopathy -Orphanet:908 Fragile X syndrome -Orphanet:642691 Fragile X-associated primary ovarian insufficiency -Orphanet:93256 Fragile X-associated tremor/ataxia syndrome -Orphanet:137834 Frank-Ter Haar syndrome -Orphanet:2052 Fraser syndrome -Orphanet:347 Frasier syndrome -Orphanet:834 Free sialic acid storage disease -Orphanet:309324 Free sialic acid storage disease, infantile form -Orphanet:2053 Freeman-Sheldon syndrome -Orphanet:85335 Fried syndrome -Orphanet:99672 Fried's tooth and nail syndrome -Orphanet:95 Friedreich ataxia -Orphanet:1931 Frontal encephalocele -Orphanet:254492 Frontal fibrosing alopecia -Orphanet:1791 Frontofacionasal dysplasia -Orphanet:1826 Frontometaphyseal dysplasia -Orphanet:141168 Frontonasal arteriovenous malformation -Orphanet:250 Frontonasal dysplasia -Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome -Orphanet:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome -Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome -Orphanet:391474 Frontorhiny -Orphanet:98535 Frontotemporal degeneration with dementia -Orphanet:282 Frontotemporal dementia -Orphanet:275872 Frontotemporal dementia with motor neuron disease -Orphanet:306708 Frontotemporal neurodegeneration with movement disorder -Orphanet:348 Fructose-1,6-bisphosphatase deficiency -Orphanet:2059 Fryns syndrome -Orphanet:2058 Fryns-Smeets-Thiry syndrome -Orphanet:98974 Fuchs endothelial corneal dystrophy -Orphanet:263479 Fuchs heterochromic iridocyclitis -Orphanet:349 Fucosidosis -Orphanet:2854 Fuhrmann syndrome -Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 -Orphanet:637 Full NF2-related schwannomatosis -Orphanet:93921 Full schwannomatosis -Orphanet:35063 Fulminant viral hepatitis -Orphanet:24 Fumaric aciduria -Orphanet:183681 Functional neutrophil defect -Orphanet:231419 Functional variant of Guillain-Barré syndrome -Orphanet:91348 Functioning gonadotropic adenoma -Orphanet:506060 Functioning neuroendocrine tumor of pancreas -Orphanet:314753 Functioning pituitary adenoma -Orphanet:227796 Fundus albipunctatus -Orphanet:99004 Fundus pulverulentus -Orphanet:519930 Fungal keratitis -Orphanet:207000 Fungal myositis -Orphanet:591 Furuncular myiasis -Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga -Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini -Orphanet:563684 Furuncular myiasis due to Dermatobia hominis -Orphanet:228119 Fusariosis -Orphanet:2287 Fused mandibular incisors -Orphanet:2067 GAPO syndrome -Orphanet:438274 GCGR-related hyperglucagonemia -Orphanet:568051 GJC2-related late-onset primary lymphedema -Orphanet:354 GM1 gangliosidosis -Orphanet:79255 GM1 gangliosidosis type 1 -Orphanet:79256 GM1 gangliosidosis type 2 -Orphanet:79257 GM1 gangliosidosis type 3 -Orphanet:309246 GM2 gangliosidosis, AB variant -Orphanet:370933 GM3 synthase deficiency -Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 -Orphanet:2090 GMS syndrome -Orphanet:592564 GNAO1-related developmental delay-seizures-movement disorder spectrum -Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome -Orphanet:602 GNE myopathy -Orphanet:53693 GRACILE syndrome -Orphanet:97261 GRFoma -Orphanet:589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder -Orphanet:2102 GTP cyclohydrolase I deficiency -Orphanet:506358 Gabriele-de Vries syndrome -Orphanet:90041 Gaisböck syndrome -Orphanet:79237 Galactokinase deficiency -Orphanet:79238 Galactose epimerase deficiency -Orphanet:570422 Galactose mutarotase deficiency -Orphanet:352 Galactosemia -Orphanet:351 Galactosialidosis -Orphanet:100086 Gallbladder neuroendocrine tumor -Orphanet:2065 Galloway-Mowat syndrome -Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency -Orphanet:33573 Gamma-glutamyl transpeptidase deficiency -Orphanet:100026 Gamma-heavy chain disease -Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 -Orphanet:251937 Gangliocytoma -Orphanet:251949 Ganglioglioma -Orphanet:251877 Ganglioneuroblastoma -Orphanet:251992 Ganglioneuroma -Orphanet:79665 Gardner syndrome -Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach -Orphanet:36273 Gastric linitis plastica -Orphanet:2069 Gastrocutaneous syndrome -Orphanet:97944 Gastroduodenal malformation -Orphanet:481508 Gastroenteric neuroendocrine neoplasm -Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm -Orphanet:44890 Gastrointestinal stromal tumor -Orphanet:2368 Gastroschisis -Orphanet:355 Gaucher disease -Orphanet:77259 Gaucher disease type 1 -Orphanet:77260 Gaucher disease type 2 -Orphanet:77261 Gaucher disease type 3 -Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome -Orphanet:98957 Gelatinous drop-like corneal dystrophy -Orphanet:2623 Geleophysic dysplasia -Orphanet:2074 Gemignani syndrome -Orphanet:251604 Gemistocytic astrocytoma -Orphanet:51608 Generalized arterial calcification of infancy -Orphanet:168632 Generalized basaloid follicular hamartoma syndrome -Orphanet:206710 Generalized bulbospinal muscular atrophy -Orphanet:36387 Generalized epilepsy with febrile seizures-plus -Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome -Orphanet:157991 Generalized eruptive histiocytosis -Orphanet:411777 Generalized eruptive keratoacanthoma -Orphanet:280774 Generalized essential telangiectasia -Orphanet:308487 Generalized galactose epimerase deficiency -Orphanet:786 Generalized glucocorticoid resistance syndrome -Orphanet:376724 Generalized isolated dystonia -Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli -Orphanet:263543 Generalized peeling skin syndrome -Orphanet:171876 Generalized pseudohypoaldosteronism type 1 -Orphanet:247353 Generalized pustular psoriasis -Orphanet:325697 Genetic 46,XX difference of sex development -Orphanet:325706 Genetic 46,XY difference of sex development Orphanet:325713 Genetic 46,XY difference of sex development of endocrine origin -Orphanet:183441 Genetic acrokeratoderma -Orphanet:481771 Genetic alopecia -Orphanet:156607 Genetic biliary tract disease -Orphanet:183527 Genetic bone tumor -Orphanet:183576 Genetic branchial arch or oral-acral syndrome -Orphanet:271853 Genetic cardiac anomaly -Orphanet:477805 Genetic cardiac malformation -Orphanet:101934 Genetic cardiac rhythm disease -Orphanet:271841 Genetic cardiac tumor -Orphanet:183503 Genetic central nervous system and retinal vascular disease -Orphanet:183506 Genetic central nervous system malformation +Orphanet:652510 Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa Orphanet:650182 Genetic central precocious puberty Orphanet:650077 Genetic central precocious puberty in female Orphanet:650097 Genetic central precocious puberty in male Orphanet:269560 Genetic cerebellar malformation -Orphanet:269553 Genetic cerebral malformation -Orphanet:477754 Genetic cerebral small vessel disease -Orphanet:101960 Genetic chronic primary adrenal insufficiency -Orphanet:459537 Genetic complex vascular malformation with associated anomalies -Orphanet:183536 Genetic congenital limb malformation Orphanet:522560 Genetic corneal dystrophy -Orphanet:183542 Genetic cranial malformation -Orphanet:93587 Genetic cystic renal disease -Orphanet:158124 Genetic dementia -Orphanet:183472 Genetic dermis disorder -Orphanet:183557 Genetic developmental defect of the eye -Orphanet:325690 Genetic difference of sex development -Orphanet:325665 Genetic difference of sex development of gynecological interest -Orphanet:183545 Genetic digestive tract malformation -Orphanet:271835 Genetic digestive tract tumor -Orphanet:156643 Genetic endocrine growth disease -Orphanet:183447 Genetic epidermal appendage anomaly -Orphanet:183426 Genetic epidermal disorder -Orphanet:183438 Genetic erythrokeratoderma -Orphanet:183619 Genetic eye tumor -Orphanet:414726 Genetic facial cleft -Orphanet:276061 Genetic frontotemporal degeneration with dementia -Orphanet:165658 Genetic gastro-esophageal disease -Orphanet:183586 Genetic glomerular disease -Orphanet:183734 Genetic gynecological tumor -Orphanet:183450 Genetic hair anomaly -Orphanet:183583 Genetic head and neck malformation -Orphanet:466066 Genetic hemoglobinopathy -Orphanet:576742 Genetic hemolytic uremic syndrome -Orphanet:371861 Genetic hyperaldosteronism -Orphanet:254704 Genetic hyperferritinemia without iron overload -Orphanet:208596 Genetic hyperparathyroidism -Orphanet:208593 Genetic hypoparathyroidism -Orphanet:183494 Genetic immune deficiency with skin involvement -Orphanet:275742 Genetic infertility -Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy -Orphanet:264992 Genetic interstitial lung disease -Orphanet:165655 Genetic intestinal disease -Orphanet:363306 Genetic intestinal disease due to fat malabsorption -Orphanet:363314 Genetic intestinal polyposis -Orphanet:363300 Genetic intractable diarrhea of infancy -Orphanet:435609 Genetic larynx anomaly -Orphanet:471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome -Orphanet:98305 Genetic lipodystrophy -Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component -Orphanet:183570 Genetic malformation syndrome with short stature -Orphanet:183481 Genetic mixed dermis disorder -Orphanet:98505 Genetic motor neuron disease -Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome -Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -Orphanet:183454 Genetic nail anomaly -Orphanet:183616 Genetic neuro-ophthalmological disease -Orphanet:183500 Genetic neurodegenerative disease -Orphanet:276058 Genetic neurodegenerative disease with dementia -Orphanet:271847 Genetic neuroendocrine tumor -Orphanet:98743 Genetic neurological channelopathy of the central nervous system -Orphanet:183497 Genetic neuromuscular disease -Orphanet:371436 Genetic neurovascular malformation -Orphanet:98267 Genetic non-syndromic obesity -Orphanet:435606 Genetic nose and cavum anomaly -Orphanet:77828 Genetic obesity -Orphanet:466084 Genetic otorhinolaryngologic disease -Orphanet:435603 Genetic otorhinolaryngological malformation -Orphanet:183573 Genetic overgrowth/obesity syndrome -Orphanet:165661 Genetic pancreatic disease -Orphanet:156604 Genetic parenchymatous liver disease -Orphanet:371433 Genetic periodic paralysis -Orphanet:98497 Genetic peripheral neuropathy -Orphanet:183490 Genetic photodermatosis -Orphanet:183463 Genetic pigmentation anomaly of the skin -Orphanet:250165 Genetic polycythemia -Orphanet:183643 Genetic polyendocrinopathy -Orphanet:183444 Genetic porokeratosis -Orphanet:269557 Genetic posterior fossa malformation -Orphanet:435554 Genetic precocious puberty -Orphanet:435564 Genetic precocious puberty in female -Orphanet:485382 Genetic premature ovarian failure -Orphanet:521232 Genetic primary orthostatic disorder -Orphanet:448426 Genetic primary orthostatic hypotension -Orphanet:363245 Genetic progeroid syndrome -Orphanet:99845 Genetic recurrent myoglobinuria -Orphanet:183539 Genetic renal or urinary tract malformation -Orphanet:183592 Genetic renal tubular disease -Orphanet:183595 Genetic renal tumor -Orphanet:183622 Genetic respiratory malformation -Orphanet:183554 Genetic respiratory or mediastinal malformation -Orphanet:183460 Genetic sebaceous gland anomaly -Orphanet:183487 Genetic skin tumor or hamartoma -Orphanet:183478 Genetic skin vascular disorder -Orphanet:271832 Genetic soft tissue tumor -Orphanet:656 Genetic steroid-resistant nephrotic syndrome -Orphanet:183484 Genetic subcutaneous tissue disorder Orphanet:522562 Genetic superficial corneal dystrophy -Orphanet:183710 Genetic susceptibility to infections due to particular pathogens Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as a major feature -Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature -Orphanet:363294 Genetic syndromic Pierre Robin syndrome -Orphanet:371445 Genetic syndromic esophageal malformation -Orphanet:183589 Genetic thrombotic microangiopathy -Orphanet:435612 Genetic tracheal anomaly -Orphanet:226316 Genetic transient congenital hypothyroidism -Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues -Orphanet:156622 Genetic urogenital tract malformation -Orphanet:271844 Genetic urogenital tumor -Orphanet:182734 Genetic urticaria -Orphanet:211240 Genetic vascular anomaly -Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen -Orphanet:2075 Genitopalatocardiac syndrome -Orphanet:85201 Genitopatellar syndrome -Orphanet:85197 Genochondromatosis type 1 -Orphanet:93398 Genochondromatosis type 2 -Orphanet:2077 German syndrome -Orphanet:91352 Germinoma of the central nervous system -Orphanet:2078 Geroderma osteodysplastica -Orphanet:221117 Gerstmann syndrome -Orphanet:356 Gerstmann-Straussler-Scheinker syndrome -Orphanet:99926 Gestational choriocarcinoma -Orphanet:254685 Gestational trophoblastic disease -Orphanet:59305 Gestational trophoblastic neoplasm -Orphanet:1802 Ghosal hematodiaphyseal dysplasia -Orphanet:180267 Giant adenofibroma of the breast -Orphanet:643 Giant axonal neuropathy -Orphanet:397 Giant cell arteritis -Orphanet:251579 Giant cell glioblastoma -Orphanet:363976 Giant cell tumor of bone -Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome -Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome -Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome -Orphanet:358 Gitelman syndrome -Orphanet:620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation -Orphanet:849 Glanzmann thrombasthenia -Orphanet:213833 Glassy cell carcinoma of the cervix uteri -Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea -Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome -Orphanet:2085 Glaucoma-sleep apnea syndrome -Orphanet:636950 Glaucomatocyclitic crisis disease -Orphanet:182067 Glial tumor -Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin -Orphanet:360 Glioblastoma -Orphanet:269197 Glioependymal/ependymal cyst -Orphanet:251582 Gliomatosis cerebri -Orphanet:251576 Gliosarcoma -Orphanet:269224 Global cerebellar malformation -Orphanet:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome -Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome -Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome -Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome -Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome -Orphanet:391651 Glomus tumor -Orphanet:83454 Glomuvenous malformation -Orphanet:141163 Glossopalatine ankylosis -Orphanet:221098 Glossopharyngeal neuralgia -Orphanet:97280 Glucagonoma -Orphanet:79177 Gluconeogenesis disorder -Orphanet:79178 Glucose transport disorder -Orphanet:35710 Glucose-galactose malabsorption -Orphanet:33574 Glutamate-cysteine ligase deficiency -Orphanet:35706 Glutaric acidemia type 3 -Orphanet:25 Glutaryl-CoA dehydrogenase deficiency -Orphanet:32 Glutathione synthetase deficiency -Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria -Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria -Orphanet:308993 Glycerol kinase deficiency -Orphanet:284414 Glycerol kinase deficiency, adult form -Orphanet:284411 Glycerol kinase deficiency, juvenile form -Orphanet:407 Glycine encephalopathy -Orphanet:79201 Glycogen storage disease -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency -Orphanet:365 Glycogen storage disease due to acid maltase deficiency -Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset -Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset -Orphanet:57 Glycogen storage disease due to aldolase A deficiency -Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency -Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia -Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib -Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency -Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form -Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form -Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form -Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form -Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form -Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form -Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form -Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency -Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency -Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency -Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency -Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency -Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency -Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency -Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency -Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency -Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency -Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency -Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency -Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency -Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency -Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency -Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency -Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency -Orphanet:309279 Glycoproteinosis -Orphanet:53697 Gnathodiaphyseal dysplasia -Orphanet:329984 Goblet cell carcinoma -Orphanet:66629 Goldberg-Shprintzen megacolon syndrome -Orphanet:53540 Goldmann-Favre syndrome -Orphanet:1986 Gollop-Wolfgang complex -Orphanet:98074 Gonadal dysgenesis of gynecological interest -Orphanet:206484 Gonadoblastoma -Orphanet:1482 Gonococcal conjunctivitis -Orphanet:169105 Good syndrome -Orphanet:65798 Goodman syndrome -Orphanet:376 Gordon syndrome -Orphanet:73 Gorham-Stout disease -Orphanet:377 Gorlin syndrome -Orphanet:2095 Gorlin-Chaudhry-Moss syndrome -Orphanet:39812 Graft versus host disease -Orphanet:505 Graham Little-Piccardi-Lassueur syndrome -Orphanet:79094 Grange syndrome -Orphanet:2097 Grant syndrome -Orphanet:98962 Granular corneal dystrophy type I -Orphanet:98963 Granular corneal dystrophy type II -Orphanet:615943 Granuloma faciale -Orphanet:900 Granulomatosis with polyangiitis -Orphanet:324930 Granulomatous autoinflammatory syndrome -Orphanet:324950 Granulomatous autoinflammatory syndrome of childhood -Orphanet:64722 Granulomatous mastitis -Orphanet:33111 Granulomatous slack skin -Orphanet:721 Gray platelet syndrome -Orphanet:293375 Grayson-Wilbrandt corneal dystrophy -Orphanet:1426 Greenberg dysplasia -Orphanet:380 Greig cephalopolysyndactyly syndrome -Orphanet:381 Griscelli syndrome -Orphanet:79476 Griscelli syndrome type 1 -Orphanet:79477 Griscelli syndrome type 2 -Orphanet:79478 Griscelli syndrome type 3 -Orphanet:314613 Growing teratoma syndrome -Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome -Orphanet:73273 Growth delay due to insulin-like growth factor I resistance -Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency -Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome -Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome -Orphanet:181393 Growth hormone insensitivity syndrome -Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome -Orphanet:2101 Grubben-de Cock-Borghgraef syndrome -Orphanet:382 Guanidinoacetate methyltransferase deficiency -Orphanet:2103 Guillain-Barré syndrome -Orphanet:2957 Guttmacher syndrome -Orphanet:99914 Gynandroblastoma -Orphanet:414 Gyrate atrophy of choroid and retina -Orphanet:1532 Gómez-López-Hernández syndrome -Orphanet:168569 H syndrome -Orphanet:73229 HANAC syndrome -Orphanet:2119 HEC syndrome -Orphanet:244242 HELLP syndrome -Orphanet:570438 HHV-8-associated multicentric Castleman disease -Orphanet:443291 HIV-associated cancer -Orphanet:79230 HJV or HAMP-related hemochromatosis -Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease -Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 -Orphanet:391417 HSD10 disease -Orphanet:85295 HSD10 disease, atypical type -Orphanet:391428 HSD10 disease, infantile type -Orphanet:391457 HSD10 disease, neonatal type -Orphanet:482077 HTRA1-related autosomal dominant cerebral small vessel disease -Orphanet:482072 HTRA1-related cerebral small vessel disease -Orphanet:99803 Haddad syndrome -Orphanet:2342 Haim-Munk syndrome -Orphanet:79363 Hair anomaly -Orphanet:300878 Hairy cell leukemia variant -Orphanet:955 Hajdu-Cheney syndrome -Orphanet:2107 Hall-Riggs syndrome -Orphanet:2108 Hallermann-Streiff syndrome -Orphanet:2109 Hallermann-Streiff-like syndrome -Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome -Orphanet:93946 Hamel cerebro-palato-cardiac syndrome -Orphanet:2438 Hand-foot-genital syndrome -Orphanet:319247 Hantavirus pulmonary syndrome -Orphanet:643549 Hao-Fountain syndrome -Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion +Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation -Orphanet:457 Harlequin ichthyosis -Orphanet:199282 Harlequin syndrome -Orphanet:2115 Harrod syndrome -Orphanet:2116 Hartnup disease -Orphanet:2117 Hartsfield syndrome -Orphanet:2118 Hawkinsinuria -Orphanet:163596 Hb Bart's hydrops fetalis -Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome -Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome -Orphanet:1354 Heart defects-limb shortening syndrome -Orphanet:98716 Heart position anomaly -Orphanet:228184 Heart-hand syndrome -Orphanet:1350 Heart-hand syndrome type 2 -Orphanet:1342 Heart-hand syndrome type 3 -Orphanet:168796 Heart-hand syndrome, Slovenian type -Orphanet:93556 Heavy chain deposition disease -Orphanet:86864 Heavy chain disease -Orphanet:99932 Heiner syndrome -Orphanet:86813 Helicoid peripapillary chorioretinal degeneration -Orphanet:252054 Hemangioblastoma -Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy -Orphanet:93614 Hematological disorder with renal involvement -Orphanet:562509 Heme oxygenase-1 deficiency -Orphanet:645388 Hemi-myelomeningocele Orphanet:645393 Hemi-myeloschisis -Orphanet:443070 Hemicrania continua -Orphanet:306741 Hemidystonia-hemiatrophy syndrome -Orphanet:141145 Hemifacial hyperplasia -Orphanet:141148 Hemifacial myohyperplasia -Orphanet:221083 Hemifacial spasm -Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome -Orphanet:99802 Hemimegalencephaly -Orphanet:2130 Hemimelia -Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome -Orphanet:2132 Hemoglobin C disease -Orphanet:231242 Hemoglobin C-beta-thalassemia syndrome -Orphanet:90039 Hemoglobin D disease -Orphanet:2133 Hemoglobin E disease -Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome -Orphanet:93616 Hemoglobin H disease -Orphanet:330032 Hemoglobin Lepore-beta-thalassemia syndrome -Orphanet:330041 Hemoglobin M disease -Orphanet:280615 Hemoglobinopathy Toms River -Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes -Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency -Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency -Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency -Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency -Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency -Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency -Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization -Orphanet:275944 Hemolytic disease of the newborn with Kell alloimmunization -Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency -Orphanet:158032 Hemophagocytic syndrome -Orphanet:448 Hemophilia -Orphanet:98878 Hemophilia A -Orphanet:98879 Hemophilia B -Orphanet:617930 Hemophilia B Leyden -Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation -Orphanet:340 Hemorrhagic fever-renal syndrome -Orphanet:324632 Hendra virus infection -Orphanet:2136 Hennekam syndrome -Orphanet:2135 Hennekam-Beemer syndrome -Orphanet:3325 Heparin-induced thrombocytopenia -Orphanet:386 Hepatic cystic hamartoma -Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome -Orphanet:890 Hepatic veno-occlusive disease -Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome -Orphanet:402823 Hepatitis delta -Orphanet:449 Hepatoblastoma -Orphanet:54272 Hepatocellular adenoma -Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -Orphanet:95159 Hepatoerythropoietic porphyria -Orphanet:64743 Hepatoportal sclerosis -Orphanet:86882 Hepatosplenic T-cell lymphoma -Orphanet:168583 Hereditary North American Indian childhood cirrhosis -Orphanet:2907 Hereditary acrokeratotic poikiloderma -Orphanet:444116 Hereditary amyloidosis -Orphanet:85450 Hereditary amyloidosis with primary renal involvement -Orphanet:91378 Hereditary angioedema -Orphanet:100050 Hereditary angioedema type 1 -Orphanet:100051 Hereditary angioedema type 2 -Orphanet:528623 Hereditary angioedema with C1Inh deficiency -Orphanet:528647 Hereditary angioedema with normal C1Inh -Orphanet:599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant -Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome -Orphanet:183518 Hereditary ataxia -Orphanet:352657 Hereditary benign intraepithelial dyskeratosis -Orphanet:145 Hereditary breast and/or ovarian cancer syndrome -Orphanet:227535 Hereditary breast cancer -Orphanet:1867 Hereditary bullous dystrophy, macular type -Orphanet:30925 Hereditary central diabetes insipidus -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis -Orphanet:676 Hereditary chronic pancreatitis -Orphanet:422526 Hereditary clear cell renal cell carcinoma -Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors -Orphanet:972 Hereditary continuous muscle fiber activity -Orphanet:79273 Hereditary coproporphyria -Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin -Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin -Orphanet:167759 Hereditary dentin defect -Orphanet:26106 Hereditary diffuse gastric cancer -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia -Orphanet:288 Hereditary elliptocytosis -Orphanet:211062 Hereditary episodic ataxia -Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome -Orphanet:90045 Hereditary folate malabsorption -Orphanet:469 Hereditary fructose intolerance -Orphanet:423776 Hereditary gastric cancer -Orphanet:53372 Hereditary geniospasm -Orphanet:2024 Hereditary gingival fibromatosis -Orphanet:774 Hereditary hemorrhagic telangiectasia -Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency -Orphanet:3197 Hereditary hyperekplexia -Orphanet:163 Hereditary hyperferritinemia-cataract syndrome -Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria -Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles -Orphanet:324381 Hereditary inclusion body myopathy type 4 -Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome -Orphanet:397692 Hereditary isolated aplastic anemia -Orphanet:411602 Hereditary late-onset Parkinson disease -Orphanet:523 Hereditary leiomyomatosis and renal cell cancer -Orphanet:621 Hereditary methemoglobinemia -Orphanet:157794 Hereditary mixed polyposis syndrome -Orphanet:64751 Hereditary motor and sensory neuropathy type 5 -Orphanet:90120 Hereditary motor and sensory neuropathy type 6 -Orphanet:90119 Hereditary motor and sensory neuropathy with acrodystrophy -Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type -Orphanet:1839 Hereditary mucoepithelial dysplasia -Orphanet:178464 Hereditary myopathy with early respiratory failure -Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency -Orphanet:1062 Hereditary neurocutaneous malformation -Orphanet:456333 Hereditary neuroendocrine tumor of small intestine -Orphanet:640 Hereditary neuropathy with liability to pressure palsies -Orphanet:279943 Hereditary neutrophilia -Orphanet:443909 Hereditary nonpolyposis colon cancer -Orphanet:98671 Hereditary optic neuropathy -Orphanet:30 Hereditary orotic aciduria -Orphanet:79141 Hereditary painful callosities -Orphanet:79357 Hereditary palmoplantar keratoderma -Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type -Orphanet:47044 Hereditary papillary renal cell carcinoma -Orphanet:476102 Hereditary pediatric Behçet-like disease -Orphanet:324924 Hereditary periodic fever syndrome -Orphanet:168615 Hereditary persistence of alpha-fetoprotein -Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome -Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome -Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome -Orphanet:29072 Hereditary pheochromocytoma-paraganglioma -Orphanet:222628 Hereditary poikiloderma -Orphanet:158025 Hereditary progressive mucinous histiocytosis -Orphanet:264675 Hereditary pulmonary alveolar proteinosis -Orphanet:94088 Hereditary renal hypouricemia -Orphanet:357027 Hereditary retinoblastoma -Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type -Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin -Orphanet:140471 Hereditary sensory and autonomic neuropathy -Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation -Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 -Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B -Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 -Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 -Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 -Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 -Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 -Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 -Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay -Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome -Orphanet:685 Hereditary spastic paraplegia -Orphanet:822 Hereditary spherocytosis -Orphanet:98365 Hereditary stomatocytosis -Orphanet:84093 Hereditary thermosensitive neuropathy -Orphanet:480851 Hereditary thrombocytopenia with early-onset myelofibrosis -Orphanet:268322 Hereditary thrombocytopenia with normal platelets -Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency -Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency -Orphanet:3467 Hereditary xanthinuria -Orphanet:275777 Heritable pulmonary arterial hypertension -Orphanet:79430 Hermansky-Pudlak syndrome -Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency -Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency -Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency -Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency -Orphanet:2139 Hernández-Aguirre Negrete syndrome -Orphanet:1930 Herpes simplex virus encephalitis -Orphanet:137599 Herpes simplex virus stromal keratitis -Orphanet:208524 Herpetiform pemphigus -Orphanet:450 Heterotaxia -Orphanet:189 Hidrotic ectodermal dysplasia -Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type -Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type -Orphanet:330012 High altitude pulmonary edema -Orphanet:314029 High bone mass osteogenesis imperfecta -Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement -Orphanet:363396 High myopia-sensorineural deafness syndrome -Orphanet:251561 High-grade astrocytoma -Orphanet:213777 High-grade neuroendocrine carcinoma of the cervix uteri -Orphanet:213731 High-grade neuroendocrine carcinoma of the corpus uteri -Orphanet:84085 Hinman syndrome -Orphanet:2114 Hip dysplasia, Beukes type -Orphanet:388 Hirschsprung disease -Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome -Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome -Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome -Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome -Orphanet:3283 His bundle tachycardia -Orphanet:2157 Histidinemia -Orphanet:2158 Histidinuria-renal tubular defect syndrome -Orphanet:86896 Histiocytic sarcoma -Orphanet:137675 Histiocytoid cardiomyopathy -Orphanet:390 Histoplasmosis -Orphanet:454718 Holmes-Adie syndrome -Orphanet:79242 Holocarboxylase synthetase deficiency -Orphanet:2162 Holoprosencephaly -Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome -Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome -Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome -Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome -Orphanet:392 Holt-Oram syndrome -Orphanet:2167 Holzgreve syndrome -Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency -Orphanet:622 Homocystinuria without methylmalonic aciduria -Orphanet:369886 Homozygous 2p21 microdeletion syndrome -Orphanet:391665 Homozygous familial hypercholesterolemia -Orphanet:2744 Horizontal gaze palsy with progressive scoliosis -Orphanet:166412 Hot water reflex epilepsy -Orphanet:99907 House allergic alveolitis -Orphanet:3322 Hoyeraal-Hreidarsson syndrome -Orphanet:228116 Hughes-Stovin syndrome -Orphanet:102024 Human herpesvirus 8-related disorder -Orphanet:438279 Human infection by orthopoxvirus -Orphanet:56970 Human prion disease -Orphanet:294973 Humeral agenesis/hypoplasia -Orphanet:3265 Humero-radial synostosis -Orphanet:3266 Humero-radio-ulnar synostosis -Orphanet:94056 Humero-ulnar synostosis -Orphanet:295215 Humero-ulnar synostosis, bilateral -Orphanet:295213 Humero-ulnar synostosis, unilateral -Orphanet:3383 Humerus trochlea aplasia -Orphanet:97340 Hunter-McAlpine syndrome -Orphanet:399 Huntington disease -Orphanet:157941 Huntington disease-like 1 -Orphanet:98934 Huntington disease-like 2 -Orphanet:157946 Huntington disease-like 3 -Orphanet:158266 Huntington disease-like syndrome -Orphanet:401901 Huntington disease-like syndrome due to C9ORF72 expansions -Orphanet:384 Huriez syndrome -Orphanet:93473 Hurler syndrome -Orphanet:93476 Hurler-Scheie syndrome -Orphanet:740 Hutchinson-Gilford progeria syndrome -Orphanet:498474 Hyaline fibromatosis syndrome -Orphanet:67041 Hyaluronidase deficiency -Orphanet:99927 Hydatidiform mole -Orphanet:2177 Hydranencephaly -Orphanet:330058 Hydroa vacciniforme -Orphanet:364039 Hydroa vacciniforme-like lymphoma -Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius -Orphanet:2186 Hydrocephalus-blue sclerae-nephropathy syndrome -Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome -Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome -Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome -Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome -Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome -Orphanet:2189 Hydrolethalus -Orphanet:1041 Hydrops fetalis -Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome -Orphanet:79155 Hydroxykynureninuria -Orphanet:401 Hymenolepiasis -Orphanet:331223 Hyper-IgE syndrome -Orphanet:101089 Hyper-IgM syndrome type 2 -Orphanet:101090 Hyper-IgM syndrome type 3 -Orphanet:101091 Hyper-IgM syndrome type 4 -Orphanet:101092 Hyper-IgM syndrome type 5 -Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections -Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections -Orphanet:309147 Hyper-beta-alaninemia -Orphanet:181428 Hyperalphalipoproteinemia -Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency -Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency -Orphanet:276405 Hyperbiliverdinemia -Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency -Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency -Orphanet:476403 Hypercontractile muscle stiffness syndrome -Orphanet:306773 Hyperekplexia -Orphanet:163985 Hyperekplexia-epilepsy syndrome -Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome -Orphanet:343 Hyperimmunoglobulinemia D with periodic fever -Orphanet:443095 Hyperinsulinemic hypoglycaemia -Orphanet:324575 Hyperinsulinism due to HNF1A deficiency -Orphanet:263458 Hyperinsulinism due to INSR deficiency -Orphanet:276556 Hyperinsulinism due to UCP2 deficiency -Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency -Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome -Orphanet:682 Hyperkalemic periodic paralysis -Orphanet:409 Hyperkeratosis lenticularis perstans -Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome -Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency -Orphanet:2203 Hyperlysinemia -Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency -Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency -Orphanet:285 Hypermobile Ehlers-Danlos syndrome -Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -Orphanet:3416 Hyperostosis corticalis generalisata -Orphanet:443098 Hyperostosis cranialis interna -Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome -Orphanet:295002 Hyperphalangy -Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency -Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency -Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome -Orphanet:79375 Hyperpigmentation of the skin -Orphanet:419 Hyperprolinemia type 1 -Orphanet:79101 Hyperprolinemia type 2 -Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome -Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome -Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome -Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor -Orphanet:2220 Hypertrichosis cubiti -Orphanet:2222 Hypertrichosis lanuginosa congenita -Orphanet:324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation -Orphanet:90282 Hypertrophic or verrucous lupus erythematosus -Orphanet:2224 Hypertryptophanemia -Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome -Orphanet:251523 Hyperzincemia and hypercalprotectinemia -Orphanet:276429 Hypnic headache -Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome -Orphanet:31153 Hypoalphalipoproteinemia -Orphanet:31154 Hypobetalipoproteinemia -Orphanet:289103 Hypocalcemic rickets -Orphanet:289157 Hypocalcemic vitamin D-dependent rickets -Orphanet:93160 Hypocalcemic vitamin D-resistant rickets -Orphanet:100032 Hypocalcified amelogenesis imperfecta -Orphanet:93297 Hypochondrogenesis -Orphanet:429 Hypochondroplasia -Orphanet:36412 Hypocomplementemic urticarial vasculitis -Orphanet:2228 Hypodontia-dysplasia of nails syndrome -Orphanet:989 Hypoglossia-hypodactyly syndrome -Orphanet:156212 Hypoglossia/aglossia -Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome -Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome -Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome -Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome -Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome -Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome -Orphanet:238468 Hypohidrotic ectodermal dysplasia -Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency -Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome -Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy -Orphanet:681 Hypokalemic periodic paralysis -Orphanet:1790 Hypomandibular faciocranial dysostosis -Orphanet:100033 Hypomaturation amelogenesis imperfecta -Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism -Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome -Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome -Orphanet:599376 Hypomyelination of early myelinating structures -Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum -Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity -Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome -Orphanet:85163 Hypomyelination-congenital cataract syndrome -Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome -Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome -Orphanet:436 Hypophosphatasia -Orphanet:437 Hypophosphatemic rickets -Orphanet:79376 Hypopigmentation of the skin -Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome -Orphanet:99058 Hypoplasia of the mitral valve annulus -Orphanet:722 Hypoplasminogenemia -Orphanet:100031 Hypoplastic amelogenesis imperfecta -Orphanet:2248 Hypoplastic left heart syndrome -Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome -Orphanet:98723 Hypoplastic right heart syndrome -Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome -Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome -Orphanet:443101 Hypothalamic adipsic hypernatraemia syndrome -Orphanet:86906 Hypothalamic hamartomas with gelastic seizures -Orphanet:90673 Hypothyroidism due to TSH receptor mutations -Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function -Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia -Orphanet:163690 Hypotonia-cystinuria syndrome -Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome -Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome -Orphanet:55654 Hypotrichosis simplex -Orphanet:90368 Hypotrichosis simplex of the scalp -Orphanet:1573 Hypotrichosis with juvenile macular degeneration -Orphanet:330029 Hypotrichosis-deafness syndrome -Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type -Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome -Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome -Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency -Orphanet:2268 ICF syndrome -Orphanet:477661 IL21-related infantile inflammatory bowel disease -Orphanet:85173 IMAGe syndrome -Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome -Orphanet:209981 IRIDA syndrome -Orphanet:209943 IRVAN syndrome -Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 -Orphanet:439254 ITM2B amyloidosis -Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement -Orphanet:2307 IVIC syndrome -Orphanet:576379 Iatrogenic Creutzfeldt-Jakob disease -Orphanet:254509 Iatrogenic botulism -Orphanet:79354 Ichthyosis -Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome -Orphanet:79503 Ichthyosis hystrix of Curth-Macklin -Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome -Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome -Orphanet:91132 Ichthyosis-hypotrichosis syndrome -Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome -Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome -Orphanet:88621 Ichthyosis-prematurity syndrome -Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome -Orphanet:228000 Idiopathic CD4 lymphocytopenia -Orphanet:930 Idiopathic achalasia -Orphanet:724 Idiopathic acute eosinophilic pneumonia -Orphanet:139423 Idiopathic acute transverse myelitis -Orphanet:88 Idiopathic aplastic anemia -Orphanet:399307 Idiopathic avascular necrosis -Orphanet:171684 Idiopathic bilateral vestibulopathy -Orphanet:60033 Idiopathic bronchiectasis -Orphanet:1320 Idiopathic camptocormia -Orphanet:648919 Idiopathic catatonia -Orphanet:2902 Idiopathic chronic eosinophilic pneumonia -Orphanet:95717 Idiopathic congenital hypothyroidism -Orphanet:209919 Idiopathic copper-associated cirrhosis -Orphanet:447881 Idiopathic dropped head syndrome -Orphanet:480512 Idiopathic ductopenia -Orphanet:247724 Idiopathic eosinophilic myositis -Orphanet:558411 Idiopathic gastroparesis -Orphanet:329874 Idiopathic giant cell myocarditis -Orphanet:86908 Idiopathic hemiconvulsion-hemiplegia syndrome -Orphanet:2197 Idiopathic hypercalciuria -Orphanet:3260 Idiopathic hypereosinophilic syndrome -Orphanet:33208 Idiopathic hypersomnia -Orphanet:98482 Idiopathic inflammatory myopathy -Orphanet:238624 Idiopathic intracranial hypertension -Orphanet:95707 Idiopathic isolated micropenis -Orphanet:85193 Idiopathic juvenile osteoporosis -Orphanet:314017 Idiopathic linear interstitial keratitis -Orphanet:90158 Idiopathic localized lipodystrophy -Orphanet:353344 Idiopathic macular telangiectasia type 1 -Orphanet:353351 Idiopathic macular telangiectasia type 3 -Orphanet:84065 Idiopathic malabsorption due to bile acid synthesis defects -Orphanet:570431 Idiopathic multicentric Castleman disease -Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome -Orphanet:45452 Idiopathic neonatal atrial flutter -Orphanet:567544 Idiopathic non-lupus full-house nephropathy -Orphanet:499107 Idiopathic optic perineuritis -Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes -Orphanet:280921 Idiopathic panuveitis -Orphanet:480524 Idiopathic peliosis hepatis -Orphanet:444316 Idiopathic phalangeal acro-osteolysis -Orphanet:494428 Idiopathic pleuroparenchymal fibroelastosis -Orphanet:280917 Idiopathic posterior uveitis -Orphanet:647823 Idiopathic pregnancy-associated osteoporosis -Orphanet:275766 Idiopathic pulmonary arterial hypertension -Orphanet:1676 Idiopathic pulmonary artery dilatation -Orphanet:2032 Idiopathic pulmonary fibrosis -Orphanet:99931 Idiopathic pulmonary hemosiderosis -Orphanet:251307 Idiopathic recurrent pericarditis -Orphanet:276174 Idiopathic recurrent stupor +Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome Orphanet:648675 Idiopathic scleritis -Orphanet:458718 Idiopathic spontaneous coronary artery dissection -Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome -Orphanet:567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy -Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome -Orphanet:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance -Orphanet:99858 Idiopathic syringomyelia -Orphanet:79153 Idiopathic trachyonychia -Orphanet:209956 Idiopathic uveal effusion syndrome -Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type -Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension -Orphanet:555905 IgA pemphigus -Orphanet:449400 IgG4-related aortitis -Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis -Orphanet:284264 IgG4-related disease -Orphanet:449395 IgG4-related kidney disease -Orphanet:63999 IgG4-related mediastinitis -Orphanet:238593 IgG4-related mesenteritis -Orphanet:449563 IgG4-related ophthalmic disease -Orphanet:449427 IgG4-related pachymeningitis -Orphanet:49041 IgG4-related retroperitoneal fibrosis -Orphanet:447764 IgG4-related sclerosing cholangitis -Orphanet:449432 IgG4-related submandibular gland disease -Orphanet:596448 IgG4-related systemic disease -Orphanet:64744 IgG4-related thyroid disease -Orphanet:100078 Ileal neuroendocrine tumor -Orphanet:35858 Imerslund-Gräsbeck syndrome -Orphanet:42062 Iminoglycinuria -Orphanet:156149 Immune complex mediated vasculitis -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration -Orphanet:79391 Immune deficiency with skin involvement -Orphanet:169361 Immune dysregulation disease with immunodeficiency -Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome -Orphanet:529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome -Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome -Orphanet:364013 Immune hydrops fetalis -Orphanet:3002 Immune thrombocytopenia -Orphanet:464764 Immune-mediated acquired neuromuscular junction disease -Orphanet:623638 Immune-mediated cerebellar ataxia -Orphanet:206569 Immune-mediated necrotizing myopathy +Orphanet:658549 Idiopathic small fibers neuropathy +Orphanet:652681 Idiopathic subglottic stenosis Orphanet:648681 Immune-mediated scleritis -Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura -Orphanet:169349 Immuno-osseous dysplasia -Orphanet:34592 Immunodeficiency by defective expression of MHC class I -Orphanet:572 Immunodeficiency by defective expression of MHC class II -Orphanet:169100 Immunodeficiency due to CD25 deficiency -Orphanet:331187 Immunodeficiency due to MASP-2 deficiency -Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency -Orphanet:459345 Immunodeficiency due to a complement cascade component deficiency -Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly -Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency -Orphanet:169150 Immunodeficiency due to a late component of complement deficiency -Orphanet:331220 Immunodeficiency due to absence of thymus -Orphanet:331190 Immunodeficiency due to ficolin3 deficiency -Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency -Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency -Orphanet:101977 Immunodeficiency predominantly affecting antibody production -Orphanet:200421 Immunodeficiency with factor H anomaly -Orphanet:200418 Immunodeficiency with factor I anomaly -Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells -Orphanet:761 Immunoglobulin A vasculitis -Orphanet:169110 Immunoglobulin heavy chain deficiency -Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis -Orphanet:97567 Immunotactoid glomerulopathy -Orphanet:641350 Immunotherapy induced hypophysitis -Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome +Orphanet:34145 Immunoglobulin A nephropathy Orphanet:641343 Imprinting disorders -Orphanet:45453 Incessant infant ventricular tachycardia -Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia -Orphanet:611 Inclusion body myositis -Orphanet:206662 Inclusion myopathy -Orphanet:596941 Incomplete septal cirrhosis -Orphanet:464 Incontinentia pigmenti -Orphanet:158019 Indeterminate cell histiocytosis -Orphanet:98848 Indolent systemic mastocytosis -Orphanet:1909 Indomethacin embryofetopathy -Orphanet:70587 Infant acute respiratory distress syndrome -Orphanet:178478 Infant botulism -Orphanet:206436 Infantile Krabbe disease -Orphanet:772 Infantile Refsum disease -Orphanet:70590 Infantile apnea -Orphanet:1576 Infantile bilateral striatal necrosis -Orphanet:313850 Infantile cerebellar-retinal degeneration -Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly -Orphanet:1313 Infantile choroidocerebral calcification syndrome -Orphanet:31709 Infantile convulsions and choreoathetosis -Orphanet:199267 Infantile digital fibromatosis -Orphanet:238455 Infantile dystonia-parkinsonism -Orphanet:98258 Infantile epilepsy syndrome -Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy -Orphanet:289860 Infantile glycine encephalopathy -Orphanet:210589 Infantile hemangioma of rare localization -Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency -Orphanet:247651 Infantile hypophosphatasia -Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome -Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement -Orphanet:247165 Infantile mercury poisoning -Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease -Orphanet:2591 Infantile myofibromatosis -Orphanet:93591 Infantile nephronophthisis -Orphanet:411629 Infantile nephropathic cystinosis -Orphanet:35069 Infantile neuroaxonal dystrophy -Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis -Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency -Orphanet:251304 Infantile onset panniculitis with uveitis and systemic granulomatosis -Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia -Orphanet:3451 Infantile spasms syndrome -Orphanet:3173 Infantile spasms-broad thumbs syndrome -Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome -Orphanet:2176 Infantile systemic hyalinosis -Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy -Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis -Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia -Orphanet:457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome -Orphanet:494526 Infantile-onset generalized dyskinesia with orofacial involvement -Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression -Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome -Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia -Orphanet:1186 Infantile-onset spinocerebellar ataxia -Orphanet:544482 Infection-related hemolytic uremic syndrome -Orphanet:279922 Infectious anterior uveitis -Orphanet:98010 Infectious disease of the nervous system -Orphanet:98542 Infectious disease with dementia -Orphanet:166490 Infectious disease with epilepsy -Orphanet:206613 Infectious disease with peripheral neuropathy -Orphanet:232035 Infectious embryofetopathy -Orphanet:98252 Infectious encephalitis -Orphanet:137593 Infectious epithelial keratitis -Orphanet:279925 Infectious panuveitis -Orphanet:279919 Infectious posterior uveitis Orphanet:648665 Infectious scleritis -Orphanet:206988 Infectious, fungal or parasitic myopathy -Orphanet:289347 Infective dermatitis associated with HTLV-1 -Orphanet:570762 Infective endocarditis -Orphanet:519278 Infective keratitis -Orphanet:99123 Inferior vena cava interruption without azygos continuation -Orphanet:166484 Inflammatory and autoimmune disease with epilepsy -Orphanet:529980 Inflammatory bowel disease-recurrent sinopulmonary infections syndrome -Orphanet:79466 Inflammatory linear verrucous epidermal nevus -Orphanet:178342 Inflammatory myofibroblastic tumor -Orphanet:247718 Inflammatory myopathy with abundant macrophages -Orphanet:90003 Inflammatory pseudotumor of the liver -Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system -Orphanet:238305 Infundibulo-neurohypophysitis -Orphanet:247257 Inhalational anthrax -Orphanet:254504 Inhalational botulism -Orphanet:282166 Inherited Creutzfeldt-Jakob disease -Orphanet:319465 Inherited acute myeloid leukemia -Orphanet:140162 Inherited cancer-predisposing syndrome -Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations -Orphanet:210141 Inherited congenital spastic tetraplegia -Orphanet:425003 Inherited digestive cancer-predisposing syndrome -Orphanet:79361 Inherited epidermolysis bullosa -Orphanet:589746 Inherited gynecological cancer-predisposing syndrome -Orphanet:619340 Inherited hematologic cancer-predisposing syndrome -Orphanet:280400 Inherited human prion disease -Orphanet:183435 Inherited ichthyosis -Orphanet:281085 Inherited ichthyosis syndromic form -Orphanet:289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency -Orphanet:252190 Inherited nervous system cancer-predisposing syndrome -Orphanet:281082 Inherited non-syndromic ichthyosis -Orphanet:319328 Inherited renal cancer-predisposing syndrome -Orphanet:71862 Inherited retinal disorder -Orphanet:63259 Iniencephaly -Orphanet:411593 Insulin autoimmune syndrome -Orphanet:2297 Insulin-resistance syndrome type A -Orphanet:2298 Insulin-resistance syndrome type B -Orphanet:97279 Insulinoma -Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation -Orphanet:166108 Intellectual disability, Birk-Barel type -Orphanet:3079 Intellectual disability, Buenos-Aires type -Orphanet:3080 Intellectual disability, Wolff type -Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome -Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome -Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome -Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome -Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome -Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome -Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome -Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome -Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome -Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome -Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome -Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome -Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency -Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome -Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome -Orphanet:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome -Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome -Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome -Orphanet:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome -Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome -Orphanet:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome -Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome -Orphanet:3082 Intellectual disability-polydactyly-uncombable hair syndrome -Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome -Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome -Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome -Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome -Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome -Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome -Orphanet:363528 Intellectual disability-strabismus syndrome -Orphanet:1478 Interatrial communication -Orphanet:294927 Intercalary limb defects -Orphanet:86900 Interdigitating dendritic cell sarcoma -Orphanet:476123 Intermediate Charcot-Marie-Tooth disease -Orphanet:99989 Intermediate DEND syndrome -Orphanet:576242 Intermediate atrioventricular septal defect +Orphanet:656135 Intellectual disability-cupped ears syndrome Orphanet:646113 Intermediate collagen VI-related muscular dystrophy -Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy -Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa -Orphanet:268162 Intermediate maple syrup urine disease -Orphanet:171433 Intermediate nemaline myopathy -Orphanet:210110 Intermediate osteopetrosis -Orphanet:309331 Intermediate severe Salla disease -Orphanet:279914 Intermediate uveitis -Orphanet:329967 Intermittent hydrarthrosis -Orphanet:268173 Intermittent maple syrup urine disease -Orphanet:981 Internal carotid absence -Orphanet:37202 Interstitial cystitis -Orphanet:79099 Interstitial granulomatous dermatitis with arthritis -Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency -Orphanet:440392 Interstitial lung disease due to SP-C deficiency -Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome -Orphanet:99092 Interventricular septum aneurysm -Orphanet:178481 Intestinal botulism -Orphanet:104005 Intestinal disease due to fat malabsorption -Orphanet:104004 Intestinal disease due to vitamin absorption anomaly -Orphanet:36204 Intestinal lymphangiectasia -Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency -Orphanet:137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome -Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas -Orphanet:580572 Intraductal tubulopapillary neoplasm of pancreas -Orphanet:69665 Intrahepatic cholestasis of pregnancy -Orphanet:280802 Intralobar congenital pulmonary sequestration Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma -Orphanet:100003 Intraneural perineurioma -Orphanet:268139 Intraocular medulloepithelioma -Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome -Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome -Orphanet:98839 Intravascular large B-cell lymphoma -Orphanet:636945 Invasive Candidiasis -Orphanet:99925 Invasive mole -Orphanet:324648 Invasive non-typhoidal salmonellosis -Orphanet:633124 Invasive scopulariopsis infection -Orphanet:329324 Inverse Klippel-Trénaunay syndrome -Orphanet:98951 Inverse Marcus-Gunn phenomenon -Orphanet:3306 Inverted duplicated chromosome 15 syndrome -Orphanet:64734 Iridocorneal endothelial syndrome -Orphanet:84142 Isaacs syndrome -Orphanet:85200 Ischiovertebral syndrome -Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency -Orphanet:96325 Isochromosome Y -Orphanet:98797 Isochromosomy Yp -Orphanet:98798 Isochromosomy Yq -Orphanet:254913 Isolated ATP synthase deficiency -Orphanet:217 Isolated Dandy-Walker malformation -Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus -Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus -Orphanet:2345 Isolated Klippel-Feil syndrome -Orphanet:718 Isolated Pierre Robin syndrome -Orphanet:229717 Isolated agammaglobulinemia -Orphanet:440987 Isolated agenesis of gallbladder -Orphanet:268868 Isolated amyelia -Orphanet:563609 Isolated anencephaly -Orphanet:1048 Isolated anencephaly/exencephaly -Orphanet:250923 Isolated aniridia -Orphanet:91397 Isolated ankyloblepharon filiforme adnatum -Orphanet:3387 Isolated anterior cervical hypertrichosis -Orphanet:268936 Isolated arhinencephaly -Orphanet:1134 Isolated arrhinia -Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase -Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type -Orphanet:269221 Isolated bilateral hemispheric cerebellar hypoplasia -Orphanet:30391 Isolated biliary atresia -Orphanet:519390 Isolated blepharochalasis -Orphanet:158778 Isolated bone marrow mastocytosis -Orphanet:1398 Isolated cerebellar agenesis -Orphanet:269203 Isolated cerebellar vermis agenesis -Orphanet:199630 Isolated cerebellar vermis hypoplasia -Orphanet:209908 Isolated childhood apraxia of speech -Orphanet:519300 Isolated chorioretinal dystrophy -Orphanet:199302 Isolated cleft lip -Orphanet:2609 Isolated complex I deficiency -Orphanet:1460 Isolated complex III deficiency -Orphanet:289465 Isolated congenital adermatoglyphia -Orphanet:563951 Isolated congenital aglossia -Orphanet:91416 Isolated congenital alacrima -Orphanet:79143 Isolated congenital anonychia -Orphanet:88620 Isolated congenital anosmia -Orphanet:162526 Isolated congenital auditory ossicle malformation -Orphanet:180188 Isolated congenital breast hypoplasia/aplasia -Orphanet:217059 Isolated congenital digital clubbing -Orphanet:99171 Isolated congenital ectropion -Orphanet:519386 Isolated congenital entropion -Orphanet:485426 Isolated congenital hepatic fibrosis -Orphanet:563954 Isolated congenital hypoglossia -Orphanet:141152 Isolated congenital hypoglossia/aglossia -Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism -Orphanet:91489 Isolated congenital megalocornea -Orphanet:199642 Isolated congenital microcephaly -Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis -Orphanet:79144 Isolated congenital onychodysplasia -Orphanet:295032 Isolated congenital radial head dislocation -Orphanet:91490 Isolated congenital sclerocornea -Orphanet:141214 Isolated congenital syngnathia -Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries -Orphanet:477797 Isolated constitutional thrombocytopenia -Orphanet:200 Isolated corpus callosum agenesis -Orphanet:91396 Isolated cryptophthalmia -Orphanet:254905 Isolated cytochrome C oxidase deficiency -Orphanet:248340 Isolated delta-storage pool disease -Orphanet:307148 Isolated diffuse palmoplantar keratoderma -Orphanet:99177 Isolated distichiasis -Orphanet:156159 Isolated dystonia -Orphanet:1885 Isolated ectopia lentis -Orphanet:199647 Isolated encephalocele -Orphanet:93928 Isolated epispadias -Orphanet:563612 Isolated exencephaly -Orphanet:603515 Isolated female hypospadias Orphanet:645325 Isolated filum lipoma -Orphanet:65683 Isolated focal cortical dysplasia -Orphanet:268961 Isolated focal cortical dysplasia type I -Orphanet:268994 Isolated focal cortical dysplasia type II -Orphanet:269001 Isolated focal cortical dysplasia type IIa -Orphanet:269008 Isolated focal cortical dysplasia type IIb -Orphanet:268973 Isolated focal cortical dysplasia type Ia -Orphanet:268980 Isolated focal cortical dysplasia type Ib -Orphanet:268987 Isolated focal cortical dysplasia type Ic -Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma -Orphanet:307846 Isolated focal palmoplantar keratoderma -Orphanet:52901 Isolated follicle stimulating hormone deficiency -Orphanet:519398 Isolated foveal hypoplasia -Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands -Orphanet:408 Isolated glycerol kinase deficiency -Orphanet:231662 Isolated growth hormone deficiency type IA -Orphanet:231671 Isolated growth hormone deficiency type IB -Orphanet:231679 Isolated growth hormone deficiency type II -Orphanet:231692 Isolated growth hormone deficiency type III -Orphanet:79366 Isolated hair shaft abnormality -Orphanet:2128 Isolated hemihyperplasia -Orphanet:306527 Isolated hereditary congenital facial paralysis -Orphanet:220452 Isolated hereditary giant platelet disorder -Orphanet:542657 Isolated hyperchlorhidrosis -Orphanet:520817 Isolated inherited retinal disorder -Orphanet:519392 Isolated iridoschisis Orphanet:649029 Isolated left bronchial isomerism -Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects -Orphanet:519302 Isolated macular dystrophy -Orphanet:268920 Isolated megalencephaly -Orphanet:519402 Isolated megalopapilla -Orphanet:590539 Isolated melanotic schwannoma -Orphanet:583861 Isolated mesenteric vein thrombosis Orphanet:647782 Isolated micronodular adrenocortical disease -Orphanet:519396 Isolated microspherophakia -Orphanet:79369 Isolated nail anomaly -Orphanet:480556 Isolated neonatal sclerosing cholangitis Orphanet:637064 Isolated optic nerve aplasia Orphanet:637061 Isolated optic nerve hypoplasia -Orphanet:499096 Isolated optic neuritis -Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies -Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies -Orphanet:166119 Isolated osteopoikilosis -Orphanet:254846 Isolated oxidative phosphorylation complex disorder -Orphanet:269209 Isolated partial cerebellar vermis agenesis -Orphanet:96269 Isolated partial vaginal agenesis -Orphanet:99885 Isolated permanent neonatal diabetes mellitus -Orphanet:647794 Isolated persistent urogenital sinus -Orphanet:2924 Isolated polycystic liver disease -Orphanet:268810 Isolated posterior meningocele Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease -Orphanet:264691 Isolated pulmonary capillaritis -Orphanet:2338 Isolated punctate palmoplantar keratoderma -Orphanet:439 Isolated right ventricular hypoplasia -Orphanet:440713 Isolated sedoheptulokinase deficiency -Orphanet:583856 Isolated splenic vein thrombosis -Orphanet:457083 Isolated splenogonadal fusion -Orphanet:2440 Isolated split hand-split foot malformation -Orphanet:178311 Isolated sternocostoclavicular hyperostosis -Orphanet:3208 Isolated succinate-CoQ reductase deficiency -Orphanet:99731 Isolated sulfite oxidase deficiency -Orphanet:90674 Isolated thyroid-stimulating hormone deficiency -Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency -Orphanet:269206 Isolated total cerebellar vermis agenesis -Orphanet:454750 Isolated tracheoesophageal fistula +Orphanet:658574 Isolated pulmonary artery sling Orphanet:645322 Isolated transitional filum lipoma -Orphanet:269218 Isolated unilateral hemispheric cerebellar hypoplasia -Orphanet:519304 Isolated vitreoretinopathy -Orphanet:472 Isosporiasis -Orphanet:2305 Isotretinoin syndrome -Orphanet:2306 Isotretinoin-like syndrome -Orphanet:33 Isovaleric acidemia -Orphanet:1540 Jackson-Weiss syndrome -Orphanet:2308 Jacobsen syndrome -Orphanet:1873 Jalili syndrome -Orphanet:79139 Japanese encephalitis -Orphanet:313795 Jawad syndrome -Orphanet:139431 Jeavons syndrome -Orphanet:90647 Jervell and Lange-Nielsen syndrome -Orphanet:33314 Jessner lymphocytic infiltration of the skin -Orphanet:474 Jeune syndrome -Orphanet:2315 Johanson-Blizzard syndrome -Orphanet:2316 Johnson neuroectodermal syndrome -Orphanet:294949 Joint formation defects -Orphanet:475 Joubert syndrome -Orphanet:140874 Joubert syndrome and related disorders -Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy -Orphanet:1454 Joubert syndrome with hepatic defect -Orphanet:220493 Joubert syndrome with ocular defect -Orphanet:2318 Joubert syndrome with oculorenal defect -Orphanet:220497 Joubert syndrome with renal defect -Orphanet:2319 Juberg-Hayward syndrome -Orphanet:305 Junctional epidermolysis bullosa -Orphanet:79405 Junctional epidermolysis bullosa inversa -Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia -Orphanet:2321 Jung syndrome -Orphanet:248111 Juvenile Huntington disease -Orphanet:2801 Juvenile Paget disease -Orphanet:1941 Juvenile absence epilepsy -Orphanet:300605 Juvenile amyotrophic lateral sclerosis -Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome -Orphanet:93672 Juvenile dermatomyositis -Orphanet:98977 Juvenile glaucoma -Orphanet:2028 Juvenile hyaline fibromatosis -Orphanet:329888 Juvenile idiopathic inflammatory myopathy -Orphanet:391497 Juvenile myasthenia gravis -Orphanet:86834 Juvenile myelomonocytic leukemia -Orphanet:307 Juvenile myoclonic epilepsy -Orphanet:289596 Juvenile nasopharyngeal angiofibroma -Orphanet:93592 Juvenile nephronophthisis -Orphanet:411634 Juvenile nephropathic cystinosis -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis -Orphanet:157719 Juvenile or adult CACH syndrome -Orphanet:329894 Juvenile overlap myositis -Orphanet:93568 Juvenile polymyositis -Orphanet:79076 Juvenile polyposis of infancy -Orphanet:2929 Juvenile polyposis syndrome -Orphanet:247604 Juvenile primary lateral sclerosis -Orphanet:93399 Juvenile sialidosis type 2 -Orphanet:26137 Juvenile temporal arteritis -Orphanet:158000 Juvenile xanthogranuloma -Orphanet:589827 Juvenile-onset Steinert myotonic dystrophy -Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome -Orphanet:99100 Juxtaposition of the atrial appendages -Orphanet:597749 KAT6B-related multiple congenital anomalies syndrome -Orphanet:2332 KBG syndrome -Orphanet:439218 KCNQ2-related epileptic encephalopathy -Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome -Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability -Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome -Orphanet:477 KID syndrome -Orphanet:603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome -Orphanet:603689 KLHL7-related Bohring-Opitz-like syndrome -Orphanet:603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome -Orphanet:399081 KLHL9-related early-onset distal myopathy -Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma -Orphanet:2322 Kabuki syndrome -Orphanet:254519 Kagami-Ogata syndrome -Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation -Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion -Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 -Orphanet:478 Kallmann syndrome -Orphanet:2326 Kallmann syndrome-heart disease syndrome -Orphanet:99179 Kandori fleck retina -Orphanet:33276 Kaposi sarcoma -Orphanet:2122 Kaposiform hemangioendothelioma -Orphanet:464329 Kaposiform lymphangiomatosis -Orphanet:2328 Kapur-Toriello syndrome -Orphanet:2329 Karsch-Neugebauer syndrome -Orphanet:401996 Karyomegalic interstitial nephritis -Orphanet:2330 Kasabach-Merritt syndrome -Orphanet:2331 Kawasaki disease -Orphanet:480 Kearns-Sayre syndrome -Orphanet:2662 Keipert syndrome -Orphanet:481 Kennedy disease -Orphanet:2333 Kenny-Caffey syndrome -Orphanet:435628 Keppen-Lubinsky syndrome -Orphanet:281103 Keratinopathic ichthyosis -Orphanet:447777 Keratocystic odontogenic tumor -Orphanet:494 Keratoderma hereditarium mutilans -Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis +Orphanet:653767 Jansen-de Vries syndrome Orphanet:647815 Keratoendotheliitis fugax hereditaria -Orphanet:50943 Keratolytic winter erythema -Orphanet:2340 Keratosis follicularis spinulosa decalvans -Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome -Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome -Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome -Orphanet:498 Keratosis pilaris atrophicans -Orphanet:499 Kerion celsi -Orphanet:293807 Ketamine-induced biliary dilatation -Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency -Orphanet:85202 Keutel syndrome -Orphanet:73224 Kidney tubulopathy-dilated cardiomyopathy syndrome -Orphanet:97332 Kienbock disease -Orphanet:50918 Kikuchi-Fujimoto disease -Orphanet:482 Kimura disease -Orphanet:2908 Kindler epidermolysis bullosa -Orphanet:99741 King-Denborough syndrome -Orphanet:99978 Klatskin tumor -Orphanet:261494 Kleefstra syndrome -Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion -Orphanet:261652 Kleefstra syndrome due to a point mutation -Orphanet:33543 Kleine-Levin syndrome -Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome -Orphanet:90308 Klippel-Trénaunay syndrome -Orphanet:157823 Klüver-Bucy syndrome -Orphanet:485 Kniest dysplasia -Orphanet:1571 Knobloch syndrome -Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome -Orphanet:99077 Kommerell diverticulum -Orphanet:96169 Koolen-De Vries syndrome -Orphanet:363965 Koolen-De Vries syndrome due to a point mutation -Orphanet:477831 Kosaki overgrowth syndrome -Orphanet:99749 Kostmann syndrome -Orphanet:2351 Kousseff syndrome -Orphanet:487 Krabbe disease -Orphanet:306674 Kufor-Rakeb syndrome -Orphanet:454745 Kuru -Orphanet:1149 Kuskokwim syndrome -Orphanet:319254 Kyasanur forest disease -Orphanet:1801 Kyphomelic dysplasia -Orphanet:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome -Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome -Orphanet:300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency -Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency -Orphanet:496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome -Orphanet:79314 L-2-hydroxyglutaric aciduria -Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency -Orphanet:440731 L-ferritin deficiency -Orphanet:275543 L1 syndrome -Orphanet:521450 LAMA5-related multisystemic syndrome -Orphanet:650 LCAT deficiency -Orphanet:99812 LIG4 syndrome -Orphanet:435660 LIPE-related familial partial lipodystrophy -Orphanet:363618 LMNA-related cardiocutaneous progeria syndrome -Orphanet:498481 LRP5-related primary osteoporosis -Orphanet:83628 LUMBAR syndrome -Orphanet:83483 La Crosse encephalitis -Orphanet:98605 Lacrimal drainage system anomaly Orphanet:522534 Lacrimal drainage system anomaly of genetic origin -Orphanet:2363 Lacrimoauriculodentodigital syndrome -Orphanet:501 Lafora disease -Orphanet:59135 Laing early-onset distal myopathy -Orphanet:530983 Lamb-Shaffer syndrome -Orphanet:1296 Lambert syndrome -Orphanet:43393 Lambert-Eaton myasthenic syndrome -Orphanet:313 Lamellar ichthyosis -Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy -Orphanet:565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 -Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy -Orphanet:98301 Laminopathy -Orphanet:300763 Laminopathy with lipodystrophy -Orphanet:300758 Laminopathy with peripheral neuropathy -Orphanet:300766 Laminopathy with premature aging -Orphanet:300755 Laminopathy with striated muscle involvement -Orphanet:98818 Landau-Kleffner syndrome -Orphanet:2632 Langer mesomelic dysplasia -Orphanet:389 Langerhans cell histiocytosis -Orphanet:86897 Langerhans cell sarcoma -Orphanet:626 Large congenital melanocytic nevus -Orphanet:633 Laron syndrome -Orphanet:220465 Laron syndrome with immunodeficiency -Orphanet:503 Larsen syndrome -Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome -Orphanet:284139 Larsen-like syndrome, B3GAT3 type -Orphanet:2808 Laryngeal abductor paralysis -Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome -Orphanet:100083 Laryngeal neuroendocrine tumor -Orphanet:2407 Laryngo-onycho-cutaneous syndrome -Orphanet:2372 Laryngocele -Orphanet:137935 Laryngotracheal angioma -Orphanet:2004 Laryngotracheoesophageal cleft -Orphanet:280205 Laryngotracheoesophageal cleft type 0 -Orphanet:93938 Laryngotracheoesophageal cleft type 1 -Orphanet:93939 Laryngotracheoesophageal cleft type 2 -Orphanet:93940 Laryngotracheoesophageal cleft type 3 -Orphanet:93941 Laryngotracheoesophageal cleft type 4 -Orphanet:156249 Larynx anomaly -Orphanet:1202 Larynx atresia -Orphanet:99824 Lassa fever -Orphanet:157716 Late infantile CACH syndrome -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis -Orphanet:206443 Late-infantile/juvenile Krabbe disease -Orphanet:589833 Late-onset Steinert myotonic dystrophy -Orphanet:98540 Late-onset ataxia with dementia -Orphanet:247573 Late-onset citrullinemia type I -Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type -Orphanet:556037 Late-onset familial hypoaldosteronism -Orphanet:228227 Late-onset focal dermal elastosis -Orphanet:199299 Late-onset isolated ACTH deficiency -Orphanet:79406 Late-onset junctional epidermolysis bullosa -Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome -Orphanet:93589 Late-onset nephronophthisis -Orphanet:67042 Late-onset retinal degeneration -Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies -Orphanet:141269 Lateral facial cleft -Orphanet:2789 Lateral meningocele syndrome -Orphanet:46059 Lathosterolosis -Orphanet:98964 Lattice corneal dystrophy type I -Orphanet:99094 Laubry-Pezzi syndrome -Orphanet:2377 Laurence-Moon syndrome -Orphanet:2378 Laurin-Sandrow syndrome -Orphanet:330015 Lead poisoning -Orphanet:65 Leber congenital amaurosis -Orphanet:104 Leber hereditary optic neuropathy -Orphanet:99718 Leber plus disease -Orphanet:199251 Ledderhose disease -Orphanet:566862 Left sided atrial isomerism -Orphanet:54260 Left ventricular noncompaction -Orphanet:2380 Legg-Calvé-Perthes disease -Orphanet:600832 Legionellosis -Orphanet:549 Legionnaires disease -Orphanet:137605 Legius syndrome -Orphanet:506 Leigh syndrome -Orphanet:64720 Leiomyosarcoma -Orphanet:104076 Leiomyosarcoma of small intestine -Orphanet:213807 Leiomyosarcoma of the cervix uteri -Orphanet:213625 Leiomyosarcoma of the corpus uteri -Orphanet:507 Leishmaniasis -Orphanet:140936 Lelis syndrome -Orphanet:137839 Lemierre syndrome -Orphanet:2382 Lennox-Gastaut syndrome -Orphanet:98653 Lens position anomaly Orphanet:522552 Lens position anomaly of genetic origin -Orphanet:98655 Lens shape anomaly -Orphanet:98652 Lens size anomaly Orphanet:522550 Lens size anomaly of genetic origin -Orphanet:2658 Lenz-Majewski hyperostotic dwarfism -Orphanet:508 Leprechaunism -Orphanet:548 Leprosy -Orphanet:509 Leptospirosis -Orphanet:2900 Leri pleonosteosis -Orphanet:510 Lesch-Nyhan syndrome -Orphanet:2347 Lethal Kniest-like dysplasia -Orphanet:2371 Lethal Larsen-like syndrome -Orphanet:158687 Lethal acantholytic erosive disorder -Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency -Orphanet:1187 Lethal ataxia with deafness and optic atrophy -Orphanet:580933 Lethal brain and heart developmental defects -Orphanet:93465 Lethal chondrodysplasia -Orphanet:294965 Lethal congenital contracture syndrome -Orphanet:1486 Lethal congenital contracture syndrome type 1 -Orphanet:137776 Lethal congenital contracture syndrome type 2 -Orphanet:137783 Lethal congenital contracture syndrome type 3 -Orphanet:1972 Lethal faciocardiomelic dysplasia -Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome -Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome -Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome -Orphanet:480528 Lethal hydranencephaly-diaphragmatic hernia syndrome -Orphanet:254857 Lethal infantile mitochondrial myopathy -Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome -Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome -Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome -Orphanet:33108 Lethal multiple pterygium syndrome -Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome -Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome -Orphanet:2736 Lethal omphalocele-cleft palate syndrome -Orphanet:1832 Lethal osteosclerotic bone dysplasia -Orphanet:210144 Lethal polymalformative syndrome, Boissel type -Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome -Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation -Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster -Orphanet:1423 Lethal recessive chondrodysplasia -Orphanet:529831 Letrozole toxicity -Orphanet:2968 Leukocyte adhesion deficiency -Orphanet:99842 Leukocyte adhesion deficiency type I -Orphanet:99843 Leukocyte adhesion deficiency type II -Orphanet:99844 Leukocyte adhesion deficiency type III -Orphanet:68356 Leukodystrophy -Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts -Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome -Orphanet:542310 Leukoencephalopathy with calcifications and cysts -Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema -Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome -Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome -Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome -Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome -Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome -Orphanet:2387 Leukonychia totalis -Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome -Orphanet:95854 Levocardia -Orphanet:48162 Lewis-Sumner syndrome -Orphanet:755 Leydig cell hypoplasia -Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency -Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance -Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance -Orphanet:65285 Lhermitte-Duclos disease -Orphanet:524 Li-Fraumeni syndrome -Orphanet:49804 Lichen amyloidosis -Orphanet:402007 Lichen myxedematosus -Orphanet:525 Lichen planopilaris -Orphanet:254478 Lichen planus pemphigoides -Orphanet:254463 Lichen planus pigmentosus -Orphanet:2390 Lichtenstein syndrome -Orphanet:526 Liddle syndrome -Orphanet:93557 Light and heavy chain deposition disease -Orphanet:93558 Light chain deposition disease -Orphanet:2369 Limb body wall complex -Orphanet:263 Limb-girdle muscular dystrophy -Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency -Orphanet:69085 Limb-mammary syndrome -Orphanet:171673 Limbal stem cell deficiency -Orphanet:220402 Limited cutaneous systemic sclerosis Orphanet:645196 Limited dorsal myeloschisis -Orphanet:220407 Limited systemic sclerosis -Orphanet:46488 Linear IgA dermatosis -Orphanet:79150 Linear and whorled nevoid hypermelanosis -Orphanet:140933 Linear atrophoderma of Moulin -Orphanet:228236 Linear focal elastosis -Orphanet:589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies -Orphanet:254379 Linear lichen planus -Orphanet:2612 Linear nevus sebaceus syndrome -Orphanet:2611 Linear verrucous nevus syndrome -Orphanet:247762 Lipoblastoma -Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency -Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome -Orphanet:401854 Lipoic acid biosynthesis defect -Orphanet:401859 Lipoic acid synthetase deficiency -Orphanet:530 Lipoid proteinosis Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis -Orphanet:329481 Lipoprotein glomerulopathy -Orphanet:69078 Liposarcoma -Orphanet:401862 Lipoyl transferase 1 deficiency -Orphanet:447795 Lipoyl transferase 2 deficiency -Orphanet:98955 Lisch epithelial corneal dystrophy -Orphanet:48471 Lissencephaly -Orphanet:95232 Lissencephaly due to LIS1 mutation -Orphanet:171680 Lissencephaly due to TUBA1A mutation -Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type -Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation -Orphanet:102011 Lissencephaly type 3 -Orphanet:86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome -Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome -Orphanet:86823 Lissencephaly with cerebellar hypoplasia -Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A -Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B -Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C -Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D -Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E -Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F -Orphanet:533 Listeriosis -Orphanet:542643 Livedoid vasculopathy -Orphanet:566841 Liver adenomatosis -Orphanet:93924 Lobar holoprosencephaly -Orphanet:595356 Localized dystrophic epidermolysis bullosa -Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form -Orphanet:158676 Localized dystrophic epidermolysis bullosa, nails only -Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form -Orphanet:79400 Localized epidermolysis bullosa simplex -Orphanet:251393 Localized junctional epidermolysis bullosa -Orphanet:86795 Localized lichen myxedematosus -Orphanet:90398 Localized lichen myxedematosus with mixed features of different subtypes -Orphanet:90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms -Orphanet:79088 Localized lipodystrophy -Orphanet:178517 Localized pagetoid reticulosis -Orphanet:90289 Localized scleroderma -Orphanet:2406 Locked-in syndrome -Orphanet:75566 Loeffler endocarditis -Orphanet:60030 Loeys-Dietz syndrome -Orphanet:250831 Logopenic progressive aphasia -Orphanet:2404 Loiasis -Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency -Orphanet:498457 Longitudinal limb defect -Orphanet:180157 Longitudinal vaginal septum -Orphanet:168 Loose anagen syndrome -Orphanet:69663 Low phospholipid-associated cholelithiasis -Orphanet:140949 Low-flow priapism -Orphanet:251592 Low-grade astrocytoma -Orphanet:213736 Low-grade neuroendocrine tumor of the corpus uteri -Orphanet:2408 Lowe-Kohn-Cohen syndrome -Orphanet:295051 Lower limb hypertrophy -Orphanet:2487 Lower limb malformation-hypospadias syndrome -Orphanet:141064 Lower lip fistula -Orphanet:276435 Lower motor neuron syndrome with late-adult onset -Orphanet:844 Lown-Ganong-Levine syndrome -Orphanet:2409 Lowry-MacLean syndrome -Orphanet:1824 Lowry-Wood syndrome -Orphanet:776 Lujan-Fryns syndrome -Orphanet:319213 Lujo hemorrhagic fever -Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome -Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome -Orphanet:90285 Lupus erythematosus panniculitis -Orphanet:90283 Lupus erythematosus tumidus -Orphanet:597738 Luscan-Lumish syndrome -Orphanet:91546 Lyme disease -Orphanet:538 Lymphangioleiomyomatosis -Orphanet:2035 Lymphatic filariasis -Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome -Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome -Orphanet:33001 Lymphedema-distichiasis syndrome -Orphanet:99141 Lymphedema-posterior choanal atresia syndrome -Orphanet:314970 Lymphocytic hypereosinophilic syndrome -Orphanet:289682 Lymphoepithelial-like carcinoma -Orphanet:79128 Lymphoid interstitial pneumonia -Orphanet:86869 Lymphomatoid granulomatosis -Orphanet:98842 Lymphomatoid papulosis -Orphanet:555437 Lymphoplasmacytic inflammatory pseudotumor of the liver -Orphanet:443159 Lymphoplasmacytic lymphoma without IgM production -Orphanet:144 Lynch syndrome -Orphanet:470 Lysinuric protein intolerance -Orphanet:275761 Lysosomal acid lipase deficiency -Orphanet:35121 Lysosomal acid phosphatase deficiency -Orphanet:68366 Lysosomal disease -Orphanet:225681 Lysosomal disease with epilepsy -Orphanet:309337 Lysosomal glycogen storage disease -Orphanet:93448 Lysosomal storage disease with skeletal involvement -Orphanet:240 Léri-Weill dyschondrosteosis -Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome -Orphanet:324972 MAGIC syndrome -Orphanet:52417 MALT lymphoma -Orphanet:397941 MAN1B1-CDG -Orphanet:2466 MASA syndrome -Orphanet:171851 MEDNIK syndrome -Orphanet:352328 MEGDEL syndrome -Orphanet:85282 MEHMO syndrome -Orphanet:550 MELAS -Orphanet:401973 MEND syndrome -Orphanet:508093 MEPAN syndrome -Orphanet:551 MERRF -Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect -Orphanet:79329 MGAT2-CDG -Orphanet:623695 MIR140-related spondyloepiphyseal dysplasia -Orphanet:494433 MIRAGE syndrome -Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome -Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 -Orphanet:3434 MMEP syndrome -Orphanet:552 MODY -Orphanet:79330 MOGS-CDG -Orphanet:2563 MOMO syndrome -Orphanet:75858 MORM syndrome -Orphanet:79323 MPDU1-CDG -Orphanet:79319 MPI-CDG -Orphanet:263347 MRCS syndrome -Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis -Orphanet:320360 MT-ATP6-related mitochondrial spastic paraplegia -Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome -Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease -Orphanet:247798 MUTYH-related attenuated familial adenomatous polyposis -Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome -Orphanet:182050 MYH9-related disease -Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis -Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome -Orphanet:276238 Machado-Joseph disease type 1 -Orphanet:276241 Machado-Joseph disease type 2 -Orphanet:276244 Machado-Joseph disease type 3 -Orphanet:397612 Macrocephaly-developmental delay syndrome -Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome -Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome -Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome -Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome -Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome -Orphanet:79489 Macrocystic lymphatic malformation -Orphanet:295044 Macrodactyly of fingers -Orphanet:295241 Macrodactyly of fingers, bilateral -Orphanet:295239 Macrodactyly of fingers, unilateral -Orphanet:295047 Macrodactyly of toes -Orphanet:295245 Macrodactyly of toes, bilateral -Orphanet:295243 Macrodactyly of toes, unilateral -Orphanet:156207 Macroglossia -Orphanet:158061 Macrophage activation syndrome -Orphanet:592 Macrophagic myofasciitis -Orphanet:2432 Macrosomia-microphthalmia-cleft palate syndrome -Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome -Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome -Orphanet:137814 Macular amyloidosis -Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome -Orphanet:98969 Macular corneal dystrophy -Orphanet:79457 Maculopapular cutaneous mastocytosis -Orphanet:137867 Madras motor neuron disease -Orphanet:163634 Maffucci syndrome -Orphanet:77297 Majeed syndrome -Orphanet:87503 Mal de Meleda -Orphanet:210272 Mal de débarquement -Orphanet:556 Malakoplakia -Orphanet:420179 Malan overgrowth syndrome -Orphanet:673 Malaria -Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome -Orphanet:529970 Male infertility due to acephalic spermatozoa -Orphanet:171709 Male infertility due to globozoospermia -Orphanet:98313 Male infertility due to gonadal dysgenesis -Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder -Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa -Orphanet:98343 Male infertility due to obstructive azoospermia -Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin -Orphanet:399771 Male infertility due to sperm disorder -Orphanet:399813 Male infertility due to sperm motility disorder -Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation -Orphanet:399775 Male infertility with spermatogenesis disorder -Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation -Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation -Orphanet:98516 Malformation of the cerebellar hemispheres -Orphanet:98514 Malformation of the cerebellar vermis -Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column -Orphanet:98196 Malformation syndrome with hamartosis -Orphanet:139042 Malformation syndrome with odontal and/or periodontal component -Orphanet:139021 Malformation syndrome with short stature -Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta -Orphanet:99915 Maligant granulosa cell tumor of the ovary -Orphanet:289385 Malignancy diagnosed during pregnancy -Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary -Orphanet:679 Malignant atrophic papulosis -Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary -Orphanet:398934 Malignant epithelial tumor of ovary -Orphanet:276145 Malignant epithelial tumor of salivary glands -Orphanet:213837 Malignant germ cell tumor of the cervix uteri -Orphanet:213751 Malignant germ cell tumor of the corpus uteri -Orphanet:206489 Malignant germ cell tumor of the vagina -Orphanet:423 Malignant hyperthermia of anesthesia -Orphanet:207046 Malignant lymphoma with peripheral neuropathy -Orphanet:168999 Malignant melanoma of the mucosa -Orphanet:293181 Malignant migrating focal seizures of infancy -Orphanet:213512 Malignant mixed Müllerian tumor of the ovary -Orphanet:213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri -Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri -Orphanet:206538 Malignant non-dysgerminomatous germ cell tumor of ovary -Orphanet:398940 Malignant non-epithelial tumor of ovary -Orphanet:3148 Malignant peripheral nerve sheath tumor -Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation -Orphanet:168811 Malignant peritoneal mesothelioma -Orphanet:35808 Malignant sex cord stromal tumor of ovary -Orphanet:398987 Malignant teratoma of ovary -Orphanet:252212 Malignant triton tumor -Orphanet:180242 Malignant tumor of fallopian tubes -Orphanet:398043 Malignant tumor of penis -Orphanet:943 Malonic aciduria -Orphanet:99090 Malposition of a coronary ostium -Orphanet:238744 Mammary-digital-nail syndrome -Orphanet:141174 Mandibular arteriovenous malformation -Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome -Orphanet:2457 Mandibuloacral dysplasia +Orphanet:653698 Lymphocytic mastitis Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 -Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy -Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy -Orphanet:155899 Mandibulofacial dysostosis -Orphanet:443995 Mandibulofacial dysostosis with alopecia -Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome -Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome -Orphanet:306682 Manganese poisoning -Orphanet:2459 Mansonelliasis -Orphanet:52416 Mantle cell lymphoma -Orphanet:511 Maple syrup urine disease -Orphanet:228157 Marburg acute multiple sclerosis -Orphanet:99826 Marburg hemorrhagic fever -Orphanet:221074 Marchiafava-Bignami disease -Orphanet:91412 Marcus-Gunn syndrome -Orphanet:2461 Marden-Walker syndrome -Orphanet:558 Marfan syndrome -Orphanet:284993 Marfan syndrome and Marfan-related disorders -Orphanet:284963 Marfan syndrome type 1 -Orphanet:284973 Marfan syndrome type 2 -Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome -Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome -Orphanet:314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome -Orphanet:2464 Marfanoid syndrome, De Silva type -Orphanet:307995 Marginal papular palmoplantar keratoderma -Orphanet:444 Marie Unna hereditary hypotrichosis -Orphanet:101104 Marin-Amat syndrome -Orphanet:559 Marinesco-Sjögren syndrome -Orphanet:560 Marshall syndrome -Orphanet:561 Marshall-Smith syndrome -Orphanet:466718 Martinique crinkled retinal pigment epitheliopathy -Orphanet:98851 Mast cell leukemia -Orphanet:66661 Mast cell sarcoma -Orphanet:98292 Mastocytosis -Orphanet:251535 Maternal disease-related embryofetopathy -Orphanet:2216 Maternal hyperthermia-induced birth defects -Orphanet:2209 Maternal phenylketonuria -Orphanet:411712 Maternal riboflavin deficiency -Orphanet:98153 Maternal uniparental disomy -Orphanet:251009 Maternal uniparental disomy of chromosome 1 -Orphanet:97678 Maternal uniparental disomy of chromosome 13 -Orphanet:96185 Maternal uniparental disomy of chromosome 16 -Orphanet:96179 Maternal uniparental disomy of chromosome 2 -Orphanet:96186 Maternal uniparental disomy of chromosome 20 -Orphanet:96187 Maternal uniparental disomy of chromosome 21 -Orphanet:96188 Maternal uniparental disomy of chromosome 22 -Orphanet:96180 Maternal uniparental disomy of chromosome 4 -Orphanet:96181 Maternal uniparental disomy of chromosome 6 -Orphanet:96183 Maternal uniparental disomy of chromosome 9 -Orphanet:261519 Maternal uniparental disomy of chromosome X -Orphanet:225 Maternally-inherited diabetes and deafness -Orphanet:2470 Matthew-Wood syndrome -Orphanet:141171 Maxillary arteriovenous malformation -Orphanet:1248 Maxillonasal dysplasia -Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome -Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 -Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 -Orphanet:57782 Mazabraud syndrome -Orphanet:562 McCune-Albright syndrome -Orphanet:2471 McDonough syndrome -Orphanet:2473 McKusick-Kaufman syndrome -Orphanet:59306 McLeod neuroacanthocytosis syndrome -Orphanet:3097 Meacham syndrome -Orphanet:564 Meckel syndrome -Orphanet:70588 Meconium aspiration syndrome -Orphanet:57196 Medial condensing osteitis of the clavicle -Orphanet:2006 Median cleft lip/mandible -Orphanet:141239 Median cleft of the upper lip and maxilla -Orphanet:141234 Median facial cleft -Orphanet:2699 Median nodule of the upper lip -Orphanet:370127 Medich giant platelet syndrome -Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency -Orphanet:102000 Medullar disease -Orphanet:1309 Medullary sponge kidney -Orphanet:1332 Medullary thyroid carcinoma -Orphanet:616 Medulloblastoma -Orphanet:251858 Medulloblastoma with extensive nodularity -Orphanet:251883 Medulloepithelioma of the central nervous system -Orphanet:98954 Meesmann corneal dystrophy -Orphanet:97252 Mega-cisterna magna -Orphanet:280671 Megaconial congenital muscular dystrophy -Orphanet:238637 Megacystis-megaureter syndrome -Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome -Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) -Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts -Orphanet:2477 Megalencephaly -Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome -Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome -Orphanet:2479 Megalocornea-intellectual disability syndrome -Orphanet:90186 Meige disease -Orphanet:314451 Meigs syndrome -Orphanet:252206 Melanoma and neural system tumor syndrome -Orphanet:97338 Melanoma of soft tissue -Orphanet:2482 Melhem-Fahl syndrome -Orphanet:31202 Melioidosis -Orphanet:2483 Melkersson-Rosenthal syndrome -Orphanet:2484 Melnick-Needles syndrome -Orphanet:2485 Melorheostosis -Orphanet:1879 Melorheostosis with osteopoikilosis -Orphanet:748 Mendelian susceptibility to mycobacterial diseases -Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency -Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency -Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency -Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency -Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency -Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency -Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency -Orphanet:252046 Meningeal melanocytoma -Orphanet:2495 Meningioma -Orphanet:33475 Meningococcal meningitis -Orphanet:592574 Menke-Hennekam syndrome -Orphanet:565 Menkes disease -Orphanet:498251 Menstrual cycle-dependent periodic fever -Orphanet:330021 Mercury poisoning -Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis -Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction -Orphanet:95443 Mesocardia -Orphanet:2496 Mesomelia-synostoses syndrome -Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia -Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type -Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome -Orphanet:1836 Mesomelic dysplasia, Kantaputra type -Orphanet:2633 Mesomelic dysplasia, Nievergelt type -Orphanet:85170 Mesomelic dysplasia, Savarirayan type -Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome -Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder -Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency -Orphanet:98644 Metabolic disease with cataract -Orphanet:98543 Metabolic disease with dementia -Orphanet:104013 Metabolic disease with intestinal involvement -Orphanet:79387 Metabolic disease with skin involvement -Orphanet:166481 Metabolic diseases with epilepsy -Orphanet:98486 Metabolic myopathy -Orphanet:171690 Metabolic myopathy due to lactate transporter defect -Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy -Orphanet:2499 Metachondromatosis -Orphanet:512 Metachromatic leukodystrophy -Orphanet:309271 Metachromatic leukodystrophy, adult form -Orphanet:309263 Metachromatic leukodystrophy, juvenile form -Orphanet:309256 Metachromatic leukodystrophy, late infantile form -Orphanet:225692 Metal transport or utilization disorder with epilepsy -Orphanet:1240 Metaphyseal acroscyphodysplasia -Orphanet:1040 Metaphyseal anadysplasia -Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type -Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type -Orphanet:174 Metaphyseal chondrodysplasia, Schmid type -Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type -Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria -Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome -Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type -Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome -Orphanet:213531 Metaplastic carcinoma of the breast -Orphanet:2635 Metatropic dysplasia -Orphanet:31825 Methanol poisoning -Orphanet:1923 Methimazole embryofetopathy -Orphanet:168598 Methionine adenosyltransferase I/III deficiency -Orphanet:565782 Methotrexate toxicity -Orphanet:86904 Methotrexate-associated lymphoproliferative disorders -Orphanet:308380 Methylcobalamin deficiency type cblDv1 -Orphanet:2169 Methylcobalamin deficiency type cblE -Orphanet:2170 Methylcobalamin deficiency type cblG -Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -Orphanet:26 Methylmalonic acidemia with homocystinuria -Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF -Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC -Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD -Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ -Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX -Orphanet:293355 Methylmalonic acidemia without homocystinuria -Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect -Orphanet:502430 Metopic ridging-ptosis-facial dysmorphism syndrome -Orphanet:309025 Mevalonate kinase deficiency -Orphanet:29 Mevalonic aciduria -Orphanet:319308 MiT family translocation renal cell carcinoma -Orphanet:2510 Micro syndrome -Orphanet:98563 Microblepharon-ablephara syndrome -Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome -Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency -Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type -Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II -Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III -Orphanet:324761 Microcephalic primordial dwarfism -Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency -Orphanet:319675 Microcephalic primordial dwarfism, Dauber type -Orphanet:2617 Microcephalic primordial dwarfism, Montreal type -Orphanet:2643 Microcephalic primordial dwarfism, Toriello type -Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome -Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome -Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome -Orphanet:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome -Orphanet:294016 Microcephaly-capillary malformation syndrome -Orphanet:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome -Orphanet:2515 Microcephaly-cardiomyopathy syndrome -Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome -Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome -Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome -Orphanet:423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome -Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome -Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom -Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome -Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome -Orphanet:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome -Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type -Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome -Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome -Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome -Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type -Orphanet:572768 Microcephaly-micromelia syndrome -Orphanet:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome -Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome -Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome -Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome -Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome -Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome -Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome -Orphanet:231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome -Orphanet:79490 Microcystic lymphatic malformation -Orphanet:569248 Microcystic stromal tumor -Orphanet:83642 Microcytic anemia with liver iron overload -Orphanet:217377 Microduplication Xp11.22p11.23 syndrome -Orphanet:280200 Microform holoprosencephaly -Orphanet:2538 Microgastria-limb reduction defect syndrome -Orphanet:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome -Orphanet:1083 Microlissencephaly -Orphanet:50810 Microlissencephaly-micromelia syndrome -Orphanet:139471 Microphthalmia with brain and digit anomalies -Orphanet:1106 Microphthalmia with limb anomalies -Orphanet:2556 Microphthalmia with linear skin defects syndrome -Orphanet:568 Microphthalmia, Lenz type -Orphanet:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome -Orphanet:77299 Microphthalmia-brain atrophy syndrome -Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome -Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome -Orphanet:727 Microscopic polyangiitis -Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome -Orphanet:2552 Microsporidiosis -Orphanet:83463 Microtia -Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome -Orphanet:289522 Microtriplication 11q24.1 -Orphanet:2290 Microvillus inclusion disease -Orphanet:166430 Micturation-induced seizures -Orphanet:228299 Mid-dermal elastolysis -Orphanet:576074 Middle East respiratory syndrome -Orphanet:164004 Middle and/or inner ear anomaly -Orphanet:100084 Middle ear neuroendocrine tumor -Orphanet:268926 Midline cerebral malformation -Orphanet:141288 Midline cervical cleft -Orphanet:93926 Midline interhemispheric variant of holoprosencephaly -Orphanet:2557 Mietens syndrome -Orphanet:2558 Mikati-Najjar-Sahli syndrome -Orphanet:314918 Mild Canavan disease -Orphanet:169808 Mild hemophilia A -Orphanet:169799 Mild hemophilia B -Orphanet:79651 Mild hyperphenylalaninemia -Orphanet:79253 Mild phenylketonuria -Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity -Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis -Orphanet:98919 Miller Fisher syndrome -Orphanet:531 Miller-Dieker syndrome -Orphanet:94091 Mills syndrome -Orphanet:79452 Milroy disease -Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 -Orphanet:521219 Mirizzi syndrome -Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome -Orphanet:498494 Mirror-image polydactyly -Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease -Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease -Orphanet:631248 Mitchell Syndrome -Orphanet:35698 Mitochondrial DNA depletion syndrome -Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form -Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria -Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy -Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies -Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form -Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency -Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form -Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form -Orphanet:352456 Mitochondrial DNA maintenance syndrome -Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome -Orphanet:1349 Mitochondrial DNA-related cardiomyopathy and hearing loss -Orphanet:254851 Mitochondrial DNA-related dystonia -Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy -Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia -Orphanet:68380 Mitochondrial disease -Orphanet:225700 Mitochondrial disease with epilepsy -Orphanet:225703 Mitochondrial disease with peripheral neuropathy -Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis -Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency -Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration -Orphanet:254827 Mitochondrial membrane transport disorder -Orphanet:206966 Mitochondrial myopathy -Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia -Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency -Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome -Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome -Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy -Orphanet:223713 Mitochondrial oxidative phosphorylation disorder -Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies -Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies -Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism -Orphanet:254834 Mitochondrial protein import disorder -Orphanet:447784 Mitochondrial pyruvate carrier deficiency -Orphanet:254830 Mitochondrial substrate carrier disorder -Orphanet:746 Mitochondrial trifunctional protein deficiency -Orphanet:1205 Mitral atresia -Orphanet:99062 Mitral valve agenesis -Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome -Orphanet:809 Mixed connective tissue disease -Orphanet:93554 Mixed cryoglobulinemia type II -Orphanet:93555 Mixed cryoglobulinemia type III -Orphanet:458792 Mixed cystic lymphatic malformation -Orphanet:79380 Mixed dermis disorder -Orphanet:314759 Mixed functioning pituitary adenoma -Orphanet:180234 Mixed germ cell tumor -Orphanet:252021 Mixed germ cell tumor of central nervous system -Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas -Orphanet:251934 Mixed neuronal-glial tumor -Orphanet:530995 Mixed phenotype acute leukemia -Orphanet:589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) -Orphanet:589595 Mixed phenotype acute leukemia with t(v;11q23.3) -Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations -Orphanet:90036 Mixed-type autoimmune hemolytic anemia -Orphanet:45448 Miyoshi myopathy -Orphanet:169805 Moderate hemophilia A -Orphanet:169796 Moderate hemophilia B -Orphanet:178145 Moderate multiminicore disease with hand involvement -Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma -Orphanet:570 Moebius syndrome -Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome -Orphanet:52368 Mohr-Tranebjaerg syndrome -Orphanet:573 Monilethrix -Orphanet:3057 Monoamine oxidase A deficiency -Orphanet:529468 Monoclonal mast cell activation syndrome -Orphanet:228423 Monocytopenia with susceptibility to infections -Orphanet:166472 Monogenic disease with epilepsy -Orphanet:65684 Monomelic amyotrophy -Orphanet:2565 Mononen-Karnes-Senac syndrome -Orphanet:1587 Monosomy 13q14 -Orphanet:96168 Monosomy 13q34 -Orphanet:1598 Monosomy 18p -Orphanet:1600 Monosomy 18q -Orphanet:96123 Monosomy 22 -Orphanet:48652 Monosomy 22q13.3 -Orphanet:281 Monosomy 5p -Orphanet:261112 Monosomy 9p -Orphanet:77301 Monosomy 9q22.3 -Orphanet:99226 Monosomy X -Orphanet:93277 Monostotic fibrous dysplasia -Orphanet:519408 Mooren ulcer -Orphanet:77296 Morgagni-Stewart-Morel syndrome -Orphanet:35737 Morning glory disc anomaly -Orphanet:83467 Morvan syndrome -Orphanet:634511 Mosaic Legius syndrome -Orphanet:634475 Mosaic NF2-related schwannomatosis -Orphanet:329813 Mosaic genome-wide paternal uniparental disomy -Orphanet:99228 Mosaic monosomy X -Orphanet:634461 Mosaic neurofibromatosis type 1 -Orphanet:634492 Mosaic schwannomatosis -Orphanet:1692 Mosaic trisomy 1 -Orphanet:96063 Mosaic trisomy 10 -Orphanet:1698 Mosaic trisomy 12 -Orphanet:1703 Mosaic trisomy 14 -Orphanet:1706 Mosaic trisomy 15 -Orphanet:1708 Mosaic trisomy 16 -Orphanet:1711 Mosaic trisomy 17 -Orphanet:1723 Mosaic trisomy 2 -Orphanet:1724 Mosaic trisomy 20 -Orphanet:96068 Mosaic trisomy 22 -Orphanet:100071 Mosaic trisomy 3 -Orphanet:96059 Mosaic trisomy 4 -Orphanet:96060 Mosaic trisomy 5 -Orphanet:1747 Mosaic trisomy 7 -Orphanet:96061 Mosaic trisomy 8 -Orphanet:99776 Mosaic trisomy 9 -Orphanet:1052 Mosaic variegated aneuploidy syndrome -Orphanet:98503 Motor neuron disease -Orphanet:306765 Motor stereotypies -Orphanet:3347 Mounier-Kühn syndrome -Orphanet:2152 Mowat-Wilson syndrome -Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation -Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 -Orphanet:477768 Moyamoya angiopathy -Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome -Orphanet:2573 Moyamoya disease -Orphanet:401945 Moyamoya disease with early-onset achalasia -Orphanet:2574 Moynahan syndrome -Orphanet:100024 Mu-heavy chain disease -Orphanet:398961 Mucinous adenocarcinoma of ovary -Orphanet:391723 Mucinous adenocarcinoma of the appendix -Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas -Orphanet:563671 Mucinous cystadenoma of childhood -Orphanet:319322 Mucinous tubular and spindle cell renal carcinoma -Orphanet:575 Muckle-Wells syndrome -Orphanet:2451 Mucocutaneous venous malformations -Orphanet:79212 Mucolipidosis -Orphanet:576 Mucolipidosis type II -Orphanet:577 Mucolipidosis type III -Orphanet:423461 Mucolipidosis type III alpha/beta -Orphanet:423470 Mucolipidosis type III gamma -Orphanet:578 Mucolipidosis type IV -Orphanet:579 Mucopolysaccharidosis type 1 -Orphanet:580 Mucopolysaccharidosis type 2 -Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form -Orphanet:217085 Mucopolysaccharidosis type 2, severe form -Orphanet:581 Mucopolysaccharidosis type 3 -Orphanet:582 Mucopolysaccharidosis type 4 -Orphanet:309297 Mucopolysaccharidosis type 4A -Orphanet:309310 Mucopolysaccharidosis type 4B -Orphanet:583 Mucopolysaccharidosis type 6 -Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing -Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing -Orphanet:584 Mucopolysaccharidosis type 7 -Orphanet:79388 Mucopolysaccharidosis with skin involvement -Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders -Orphanet:46486 Mucous membrane pemphigoid -Orphanet:566943 Mueller-Weiss syndrome -Orphanet:53271 Muenke syndrome -Orphanet:587 Muir-Torre syndrome -Orphanet:2576 Mulibrey nanism -Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy -Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum -Orphanet:139436 Multicentric reticulohistiocytosis -Orphanet:1851 Multicystic dysplastic kidney -Orphanet:3282 Multifocal atrial tachycardia -Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome -Orphanet:641 Multifocal motor neuropathy -Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus -Orphanet:645854 Multifocal tuberculosis -Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential -Orphanet:97366 Multiloculated renal cyst -Orphanet:598 Multiminicore myopathy -Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome -Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome -Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency -Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type -Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type -Orphanet:2505 Multiple benign circumferential skin creases on limbs -Orphanet:148 Multiple carboxylase deficiency -Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome -Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 -Orphanet:68341 Multiple congenital anomalies/dysmorphic syndrome -Orphanet:102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability -Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability -Orphanet:276161 Multiple endocrine neoplasia -Orphanet:652 Multiple endocrine neoplasia type 1 -Orphanet:653 Multiple endocrine neoplasia type 2 -Orphanet:247698 Multiple endocrine neoplasia type 2A -Orphanet:247709 Multiple endocrine neoplasia type 2B -Orphanet:276152 Multiple endocrine neoplasia type 4 -Orphanet:251 Multiple epiphyseal dysplasia -Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia -Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly -Orphanet:93308 Multiple epiphyseal dysplasia type 1 -Orphanet:93307 Multiple epiphyseal dysplasia type 4 -Orphanet:93311 Multiple epiphyseal dysplasia type 5 -Orphanet:647676 Multiple epiphyseal dysplasia type 7 -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type -Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia -Orphanet:2300 Multiple intestinal atresia -Orphanet:93430 Multiple metaphyseal dysplasia -Orphanet:254807 Multiple mitochondrial DNA deletion syndrome -Orphanet:289573 Multiple mitochondrial dysfunctions syndrome -Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 -Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 -Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 -Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 -Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 -Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 -Orphanet:29073 Multiple myeloma -Orphanet:321 Multiple osteochondromas -Orphanet:324299 Multiple paragangliomas associated with polycythemia -Orphanet:100094 Multiple polyglandular tumor -Orphanet:294060 Multiple pterygium syndrome -Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome -Orphanet:228145 Multiple sclerosis variant -Orphanet:3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome -Orphanet:65748 Multiple self-healing squamous epithelioma -Orphanet:585 Multiple sulfatase deficiency -Orphanet:2398 Multiple symmetric lipomatosis -Orphanet:3237 Multiple synostoses syndrome -Orphanet:102 Multiple system atrophy -Orphanet:227510 Multiple system atrophy, cerebellar type -Orphanet:98933 Multiple system atrophy, parkinsonian type -Orphanet:598363 Multisystem inflammatory syndrome in children and adults -Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome -Orphanet:83315 Murine typhus -Orphanet:171445 Muscle filaminopathy -Orphanet:588 Muscle-eye-brain disease -Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy -Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome -Orphanet:71864 Muscular channelopathy -Orphanet:98473 Muscular dystrophy -Orphanet:199340 Muscular dystrophy, Selcen type -Orphanet:206959 Muscular glycogenosis -Orphanet:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome -Orphanet:206953 Muscular lipidosis -Orphanet:2349 Muscular pseudohypertrophy-hypothyroidism syndrome -Orphanet:206982 Muscular tumor -Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome -Orphanet:98648 Musculoskeletal disease with cataract -Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia -Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques -Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan -Orphanet:589 Myasthenia gravis -Orphanet:2583 Mycetoma -Orphanet:268249 Mycophenolate mofetil embryopathy -Orphanet:83482 Mycoplasma encephalitis +Orphanet:658813 Methylenetetrahydrofolate dehydrogenase 1 deficiency +Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency +Orphanet:652658 Monomorphic epitheliotropic intestinal T-cell lymphoma Orphanet:645378 Myelic limited dorsal malformation -Orphanet:268813 Myelocystocele -Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality -Orphanet:86850 Myeloid sarcoma -Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement -Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement -Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement -Orphanet:2587 Myeloperoxidase deficiency Orphanet:645398 Myeloschisis -Orphanet:2588 Myhre syndrome -Orphanet:75110 Myiasis -Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies -Orphanet:86909 Myoclonic epilepsy of infancy -Orphanet:1942 Myoclonic-astatic epilepsy -Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome -Orphanet:36899 Myoclonus-dystonia syndrome -Orphanet:593 Myofibrillar myopathy -Orphanet:536516 Myopathic Ehlers-Danlos syndrome -Orphanet:104077 Myopathic intestinal pseudoobstruction -Orphanet:2596 Myopathy and diabetes mellitus -Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays -Orphanet:289685 Myopericytoma -Orphanet:178493 Myopic macular degeneration -Orphanet:289380 Myosclerosis -Orphanet:53698 Myosin storage myopathy -Orphanet:306553 Myospherulosis -Orphanet:209224 Myotilinopathy -Orphanet:99734 Myotonia fluctuans -Orphanet:99735 Myotonia permanens -Orphanet:206647 Myotonic dystrophy -Orphanet:206970 Myotonic syndrome -Orphanet:79105 Myxofibrosarcoma -Orphanet:99967 Myxoid/round cell liposarcoma -Orphanet:251643 Myxopapillary ependymoma -Orphanet:2494 Ménétrier disease -Orphanet:247768 Müllerian aplasia and hyperandrogenism -Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome -Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome -Orphanet:2608 N syndrome -Orphanet:555402 NAD(P)HX dehydratase deficiency -Orphanet:555407 NAD(P)HX epimerase deficiency -Orphanet:644 NARP syndrome -Orphanet:443162 NDE1-related microhydranencephaly -Orphanet:464366 NEK9-related lethal skeletal dysplasia -Orphanet:370059 NEVADA syndrome -Orphanet:447731 NIK deficiency -Orphanet:263665 NK-cell enteropathy -Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy -Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome -Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome -Orphanet:217253 NMDA receptor encephalitis -Orphanet:3032 NPHP3-related Meckel-like syndrome -Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance -Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis -Orphanet:443167 NUT midline carcinoma -Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome -Orphanet:245 Nager syndrome -Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome -Orphanet:79368 Nail anomaly -Orphanet:2614 Nail-patella syndrome -Orphanet:2613 Nail-patella-like renal disease -Orphanet:627 Nance-Horan syndrome -Orphanet:35612 Nanophthalmos -Orphanet:619284 Narcolepsy -Orphanet:2073 Narcolepsy type 1 -Orphanet:83465 Narcolepsy type 2 -Orphanet:141103 Nasal dermoid cyst -Orphanet:141219 Nasal dorsum fistula -Orphanet:141118 Nasal encephalocele -Orphanet:141115 Nasal ganglioglioma -Orphanet:141112 Nasal glial heterotopia -Orphanet:141083 Nasolacrimal duct cyst -Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome -Orphanet:150 Nasopharyngeal carcinoma -Orphanet:141107 Nasopharyngeal teratoma -Orphanet:2770 Nasu-Hakola disease -Orphanet:2663 Nathalie syndrome -Orphanet:168572 Native American myopathy -Orphanet:255229 Navajo neurohepatopathy -Orphanet:34217 Naxos disease -Orphanet:542592 Necrobiosis lipoidica -Orphanet:158011 Necrobiotic xanthogranuloma -Orphanet:391673 Necrotizing enterocolitis -Orphanet:440368 Necrotizing soft tissue infection -Orphanet:199244 Nelson syndrome -Orphanet:607 Nemaline myopathy -Orphanet:284979 Neonatal Marfan syndrome -Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency -Orphanet:44 Neonatal adrenoleukodystrophy -Orphanet:464370 Neonatal alloimmune neutropenia -Orphanet:398097 Neonatal antiphospholipid syndrome -Orphanet:398109 Neonatal autoimmune hemolytic anemia -Orphanet:137929 Neonatal brainstem dysfunction -Orphanet:641829 Neonatal compartment syndrome -Orphanet:398117 Neonatal dermatomyositis -Orphanet:224 Neonatal diabetes mellitus -Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome -Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome -Orphanet:98257 Neonatal epilepsy syndrome -Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency -Orphanet:289857 Neonatal glycine encephalopathy -Orphanet:446 Neonatal hemochromatosis -Orphanet:137577 Neonatal hypoxic and ischemic brain injury -Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome -Orphanet:294023 Neonatal inflammatory skin and bowel disease -Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency -Orphanet:238688 Neonatal iodine exposure -Orphanet:398124 Neonatal lupus erythematosus -Orphanet:93443 Neonatal osteosclerotic dysplasia -Orphanet:398127 Neonatal scleroderma -Orphanet:466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect -Orphanet:417 Neonatal severe primary hyperparathyroidism -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 -Orphanet:94058 Neovascular glaucoma -Orphanet:654 Nephroblastoma -Orphanet:223 Nephrogenic diabetes insipidus -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome -Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis -Orphanet:137617 Nephrogenic systemic fibrosis -Orphanet:655 Nephronophthisis -Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease -Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome -Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome -Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome -Orphanet:280576 Nestor-Guillermo progeria syndrome -Orphanet:634 Netherton syndrome -Orphanet:2671 Neu-Laxova syndrome -Orphanet:583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency -Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency -Orphanet:583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency -Orphanet:99078 Neuhauser anomaly -Orphanet:2672 Neuhauser-Eichner-Opitz syndrome -Orphanet:268357 Neural tube closure defect -Orphanet:3388 Neural tube defect -Orphanet:2901 Neuralgic amyotrophy -Orphanet:268865 Neurenteric cyst -Orphanet:140653 Neuro-ophthalmological disease -Orphanet:263440 Neuroacanthocytosis -Orphanet:635 Neuroblastoma -Orphanet:2481 Neurocutaneous melanocytosis -Orphanet:166466 Neurocutaneous syndrome with epilepsy -Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency -Orphanet:385 Neurodegeneration with brain iron accumulation -Orphanet:306719 Neurodegenerative disease with chorea -Orphanet:98534 Neurodegenerative disease with dementia -Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency -Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome -Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome -Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome -Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome -Orphanet:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion -Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation -Orphanet:33445 Neuroectodermal melanolysosomal disease -Orphanet:506098 Neuroendocrine carcinoma of pancreas -Orphanet:217560 Neuroendocrine cell hyperplasia of infancy -Orphanet:877 Neuroendocrine neoplasm -Orphanet:100079 Neuroendocrine neoplasm of appendix -Orphanet:506136 Neuroendocrine neoplasm of esophagus -Orphanet:506052 Neuroendocrine neoplasm of pancreas -Orphanet:100082 Neuroendocrine tumor of anal canal -Orphanet:97253 Neuroendocrine tumor of pancreas -Orphanet:100075 Neuroendocrine tumor of stomach -Orphanet:100080 Neuroendocrine tumor of the colon -Orphanet:100081 Neuroendocrine tumor of the rectum -Orphanet:100101 Neuroendocrine tumor with other location -Orphanet:2673 Neurofaciodigitorenal syndrome -Orphanet:157846 Neuroferritinopathy -Orphanet:252183 Neurofibroma -Orphanet:636 Neurofibromatosis type 1 -Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion -Orphanet:638 Neurofibromatosis-Noonan syndrome -Orphanet:634518 Neurofibromatosis/schwannomatosis -Orphanet:1143 Neurogenic arthrogryposis multiplex congenita -Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type -Orphanet:100073 Neurogenic thoracic outlet syndrome -Orphanet:94093 Neuroleptic malignant syndrome -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency -Orphanet:98740 Neurological muscular channelopathy due to a genetic calcium channel defect -Orphanet:98739 Neurological muscular channelopathy due to a genetic chloride channel defect -Orphanet:98741 Neurological muscular channelopathy due to a genetic potassium channel defect -Orphanet:98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect -Orphanet:98738 Neurological muscular channelopathy due to a genetic sodium channel defect -Orphanet:206586 Neurolymphomatosis -Orphanet:68385 Neurometabolic disease -Orphanet:35705 Neurometabolic disorder due to serine deficiency -Orphanet:68381 Neuromuscular disease -Orphanet:98491 Neuromuscular junction disease -Orphanet:71211 Neuromyelitis optica spectrum disorder -Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies -Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies -Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies -Orphanet:216 Neuronal ceroid lipofuscinosis -Orphanet:99811 Neuronal intestinal pseudoobstruction -Orphanet:2289 Neuronal intranuclear inclusion disease -Orphanet:251924 Neuronal tumor -Orphanet:139512 Neuropathy with hearing impairment -Orphanet:137596 Neurotrophic keratopathy -Orphanet:102006 Neurovascular malformation -Orphanet:165 Neutral lipid storage disease -Orphanet:98907 Neutral lipid storage disease with ichthyosis -Orphanet:98908 Neutral lipid storage myopathy -Orphanet:2690 Neutropenia-monocytopenia-deafness syndrome -Orphanet:183707 Neutrophil immunodeficiency syndrome -Orphanet:64754 Nevus comedonicus syndrome -Orphanet:263432 Nevus of Ito -Orphanet:263425 Nevus of Ota -Orphanet:363558 New-onset refractory status epilepticus -Orphanet:3051 Nicolaides-Baraitser syndrome -Orphanet:646 Niemann-Pick disease type C -Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset -Orphanet:216981 Niemann-Pick disease type C, juvenile neurologic onset -Orphanet:216978 Niemann-Pick disease type C, late infantile neurologic onset -Orphanet:216975 Niemann-Pick disease type C, severe early infantile neurologic onset -Orphanet:216972 Niemann-Pick disease type C, severe perinatal form -Orphanet:1390 Night blindness-skeletal anomalies-dysmorphism syndrome -Orphanet:647 Nijmegen breakage syndrome -Orphanet:240760 Nijmegen breakage syndrome-like disorder -Orphanet:99825 Nipah virus disease -Orphanet:31204 Nocardiosis -Orphanet:86867 Nodal marginal zone B-cell lymphoma -Orphanet:137810 Nodular cutaneous amyloidosis -Orphanet:477742 Nodular fasciitis -Orphanet:90393 Nodular lichen myxedematosus -Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma -Orphanet:2149 Nodular neuronal heterotopia -Orphanet:33577 Nodular non-suppurative panniculitis -Orphanet:48372 Nodular regenerative hyperplasia of the liver -Orphanet:158772 Nodular urticaria pigmentosa -Orphanet:2700 Noma -Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature -Orphanet:294953 Non syndromic limb overgrowth -Orphanet:73267 Non-24-hour sleep-wake syndrome -Orphanet:157987 Non-Langerhans cell histiocytosis -Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations -Orphanet:467 Non-acquired combined pituitary hormone deficiency -Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome -Orphanet:631 Non-acquired isolated growth hormone deficiency -Orphanet:90695 Non-acquired panhypopituitarism -Orphanet:95488 Non-acquired pituitary hormone deficiency -Orphanet:95710 Non-acquired premature ovarian failure -Orphanet:97566 Non-amyloid fibrillary glomerulopathy -Orphanet:86861 Non-amyloid monoclonal immunoglobulin deposition disease -Orphanet:289362 Non-central nervous system-localized embryonal carcinoma -Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency -Orphanet:1581 Non-distal deletion 10q -Orphanet:96160 Non-distal deletion 12q -Orphanet:1695 Non-distal duplication 10q -Orphanet:1702 Non-distal duplication 13q -Orphanet:96112 Non-distal duplication 9q -Orphanet:206656 Non-dystrophic myopathy -Orphanet:2337 Non-epidermolytic palmoplantar keratoderma -Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome -Orphanet:217629 Non-familial dilated cardiomyopathy -Orphanet:217720 Non-familial restrictive cardiomyopathy -Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas -Orphanet:94080 Non-functioning paraganglioma -Orphanet:91349 Non-functioning pituitary adenoma -Orphanet:218439 Non-genetic cardiac rhythm disease +Orphanet:652650 Nodal T-follicular helper cell lymphoma, follicular type Orphanet:650102 Non-genetic central precocious puberty in male -Orphanet:247239 Non-hereditary degenerative ataxia -Orphanet:357034 Non-hereditary retinoblastoma -Orphanet:658 Non-histaminic angioedema -Orphanet:329883 Non-hypoproteinemic hypertrophic gastropathy -Orphanet:363999 Non-immune hydrops fetalis -Orphanet:306648 Non-infectious anterior uveitis -Orphanet:90061 Non-infectious posterior uveitis -Orphanet:496924 Non-inflammatory vasculopathy -Orphanet:276608 Non-insulinoma pancreatogenous hypoglycemia syndrome -Orphanet:141179 Non-involuting congenital hemangioma -Orphanet:209989 Non-papillary transitional cell carcinoma of the bladder -Orphanet:208989 Non-paraneoplastic sensory ganglionopathy -Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability -Orphanet:436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy -Orphanet:439202 Non-recovering obstetric brachial plexus lesion -Orphanet:176 Non-rhizomelic chondrodysplasia punctata Orphanet:645343 Non-saccular limited dorsal myeloschisis -Orphanet:363494 Non-seminomatous germ cell tumor of testis -Orphanet:624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies -Orphanet:624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies -Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies -Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies -Orphanet:624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies -Orphanet:624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies -Orphanet:442835 Non-specific early-onset epileptic encephalopathy -Orphanet:91364 Non-specific interstitial pneumonia -Orphanet:528084 Non-specific syndromic intellectual disability -Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency -Orphanet:601033 Non-syndromic anorectal malformation with H-type fistula -Orphanet:601008 Non-syndromic anorectal malformation with anal stenosis -Orphanet:600952 Non-syndromic anorectal malformation with perineal fistula -Orphanet:601013 Non-syndromic anorectal malformation with pouch colon -Orphanet:601018 Non-syndromic anorectal malformation with rectal atresia -Orphanet:601023 Non-syndromic anorectal malformation with rectal stenosis -Orphanet:600961 Non-syndromic anorectal malformation with rectourethral fistula -Orphanet:600966 Non-syndromic anorectal malformation with rectourethral fistula, bulbar type -Orphanet:600975 Non-syndromic anorectal malformation with rectourethral fistula, prostatic type -Orphanet:601028 Non-syndromic anorectal malformation with rectovaginal fistula -Orphanet:600984 Non-syndromic anorectal malformation with rectovesical fistula -Orphanet:600993 Non-syndromic anorectal malformation with vestibular fistula -Orphanet:601002 Non-syndromic anorectal malformation without fistula -Orphanet:620198 Non-syndromic bicoronal and metopic craniosynostosis -Orphanet:620205 Non-syndromic bicoronal and sagittal craniosynostosis -Orphanet:35099 Non-syndromic bicoronal craniosynostosis -Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis -Orphanet:620178 Non-syndromic bilambdoid craniosynostosis Orphanet:648992 Non-syndromic bridging bronchus -Orphanet:108989 Non-syndromic central nervous system malformation -Orphanet:199633 Non-syndromic cerebral malformation -Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration -Orphanet:600998 Non-syndromic cloacal malformation -Orphanet:498470 Non-syndromic complex polydactyly Orphanet:649010 Non-syndromic congenital bronchial atresia -Orphanet:139390 Non-syndromic craniosynostosis -Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation -Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation -Orphanet:108959 Non-syndromic esophageal malformation -Orphanet:108963 Non-syndromic gastroduodenal malformation -Orphanet:87884 Non-syndromic genetic deafness -Orphanet:109011 Non-syndromic limb malformation -Orphanet:93457 Non-syndromic limb reduction defect -Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder -Orphanet:620192 Non-syndromic metopic and sagittal craniosynostosis -Orphanet:3366 Non-syndromic metopic craniosynostosis -Orphanet:620152 Non-syndromic multisutural craniosynostosis -Orphanet:620158 Non-syndromic non-specific multisutural craniosynostosis -Orphanet:620212 Non-syndromic pansynostosis -Orphanet:2913 Non-syndromic polydactyly -Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy -Orphanet:98523 Non-syndromic pontocerebellar hypoplasia -Orphanet:498467 Non-syndromic postaxial polydactyly -Orphanet:95706 Non-syndromic posterior hypospadias -Orphanet:498464 Non-syndromic preaxial polydactyly -Orphanet:108993 Non-syndromic respiratory or mediastinal malformation -Orphanet:35093 Non-syndromic sagittal craniosynostosis -Orphanet:90025 Non-syndromic syndactyly -Orphanet:620186 Non-syndromic unicoronal and sagittal craniosynostosis -Orphanet:620102 Non-syndromic unicoronal craniosynostosis -Orphanet:620139 Non-syndromic unifrontosphenoidal craniosynostosis -Orphanet:620113 Non-syndromic unilambdoid craniosynostosis -Orphanet:620146 Non-syndromic unisquamosal craniosynostosis -Orphanet:620096 Non-syndromic unisutural craniosynostosis -Orphanet:645340 Non-terminal myelocystocele -Orphanet:648 Noonan syndrome -Orphanet:98733 Noonan syndrome and Noonan-related syndrome -Orphanet:500 Noonan syndrome with multiple lentigines -Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia -Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair -Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism -Orphanet:649 Norrie disease -Orphanet:75327 North Carolina macular dystrophy -Orphanet:156246 Nose and cavum anomaly -Orphanet:314790 Null pituitary adenoma -Orphanet:280234 Null syndrome -Orphanet:99965 O'Sullivan-McLeod syndrome -Orphanet:2760 OSLAM syndrome -Orphanet:397615 Obesity due to CEP19 deficiency -Orphanet:369873 Obesity due to SIM1 deficiency -Orphanet:66628 Obesity due to congenital leptin deficiency -Orphanet:179490 Obesity due to congenital leptin resistance -Orphanet:179494 Obesity due to leptin receptor gene deficiency -Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency -Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency -Orphanet:71528 Obesity due to prohormone convertase I deficiency -Orphanet:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome -Orphanet:141253 Oblique facial cleft -Orphanet:268823 Occipital encephalocele -Orphanet:198 Occipital horn syndrome -Orphanet:280640 Occipital pachygyria and polymicrogyria -Orphanet:247834 Occult macular dystrophy -Orphanet:2704 Ochoa syndrome -Orphanet:284804 Ocular albinism -Orphanet:1000 Ocular albinism with late-onset sensorineural deafness -Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome -Orphanet:99922 Ocular cicatricial pemphigoid -Orphanet:411641 Ocular cystinosis -Orphanet:1125 Ocular motor apraxia, Cogan type -Orphanet:141132 Oculo-auriculo-vertebral spectrum -Orphanet:2714 Oculo-palato-cerebral syndrome -Orphanet:157962 Oculoauricular syndrome, Schorderet type -Orphanet:398156 Oculoauriculofrontonasal syndrome -Orphanet:2549 Oculoauriculovertebral spectrum with radial defects -Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type -Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type -Orphanet:1647 Oculocerebrocutaneous syndrome -Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type -Orphanet:534 Oculocerebrorenal syndrome of Lowe -Orphanet:55 Oculocutaneous albinism -Orphanet:352731 Oculocutaneous albinism type 1 -Orphanet:79431 Oculocutaneous albinism type 1A -Orphanet:79434 Oculocutaneous albinism type 1B -Orphanet:79432 Oculocutaneous albinism type 2 -Orphanet:79433 Oculocutaneous albinism type 3 -Orphanet:79435 Oculocutaneous albinism type 4 -Orphanet:370091 Oculocutaneous albinism type 5 -Orphanet:370097 Oculocutaneous albinism type 6 -Orphanet:352745 Oculocutaneous albinism type 7 -Orphanet:597733 Oculocutaneous albinism type 8 -Orphanet:98706 Oculocutaneous or ocular albinism -Orphanet:2709 Oculodental syndrome, Rutherfurd type -Orphanet:2710 Oculodentodigital dysplasia -Orphanet:2712 Oculofaciocardiodental syndrome -Orphanet:1876 Oculogastrointestinal muscular dystrophy -Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome -Orphanet:1794 Oculomaxillofacial dysostosis -Orphanet:98688 Oculomotor apraxia -Orphanet:2713 Oculoosteocutaneous syndrome -Orphanet:99806 Oculootodental syndrome -Orphanet:270 Oculopharyngeal muscular dystrophy -Orphanet:98897 Oculopharyngodistal myopathy -Orphanet:557003 Oculoskeletodental syndrome -Orphanet:2717 Oculotrichoanal syndrome -Orphanet:2718 Oculotrichodysplasia -Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome -Orphanet:2721 Odonto-onycho-dermal dysplasia -Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome -Orphanet:166272 Odontochondrodysplasia -Orphanet:247685 Odontohypophosphatasia -Orphanet:77295 Odontoleukodystrophy -Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome -Orphanet:1811 Odontomicronychial dysplasia -Orphanet:2723 Odontotrichomelic syndrome -Orphanet:276432 Ogden syndrome -Orphanet:75382 Oguchi disease +Orphanet:652528 Non-syndromic supernumerary kidneys +Orphanet:658612 Non-transplant-related bronchiolitis obliterans Orphanet:2729 Okamoto syndrome -Orphanet:93293 Okihiro syndrome -Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion -Orphanet:261647 Okihiro syndrome due to a point mutation -Orphanet:85410 Oligoarticular juvenile idiopathic arthritis -Orphanet:251651 Oligoastrocytic tumor -Orphanet:251656 Oligoastrocytoma -Orphanet:75378 Oligocone trichromacy -Orphanet:46484 Oligodendroglial tumor -Orphanet:251627 Oligodendroglioma -Orphanet:99798 Oligodontia -Orphanet:300576 Oligodontia-cancer predisposition syndrome -Orphanet:2260 Oligomeganephronia -Orphanet:79215 Oligosaccharidosis -Orphanet:2920 Oliver syndrome -Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome -Orphanet:296 Ollier disease -Orphanet:39041 Omenn syndrome -Orphanet:2733 Omodysplasia -Orphanet:660 Omphalocele -Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type -Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome -Orphanet:490 Omphalomesenteric cyst -Orphanet:319266 Omsk hemorrhagic fever -Orphanet:2737 Onchocerciasis -Orphanet:352540 Oncogenic osteomalacia -Orphanet:300504 Onychocytic matricoma -Orphanet:300512 Onychomatricoma -Orphanet:268363 Open iniencephaly -Orphanet:268369 Open spinal dysraphism -Orphanet:93969 Open spinal dysraphism with a myelomeningocele Orphanet:645270 Open spinal dysraphism with a posterior meningocele -Orphanet:2741 Ophthalmomandibulomelic dysplasia -Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome -Orphanet:2745 Opitz GBBB syndrome -Orphanet:2746 Opsismodysplasia -Orphanet:1183 Opsoclonus-myoclonus syndrome -Orphanet:543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome -Orphanet:401777 Optic atrophy-intellectual disability syndrome -Orphanet:519404 Optic disc pit -Orphanet:2086 Optic pathway glioma -Orphanet:357154 Oral submucous fibrosis -Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy -Orphanet:52994 Orbital leiomyoma -Orphanet:289899 Organic aciduria -Orphanet:166421 Orgasm-induced seizures -Orphanet:664 Ornithine transcarbamylase deficiency -Orphanet:139039 Orofacial clefting syndrome -Orphanet:140997 Orofaciodigital syndrome -Orphanet:2750 Orofaciodigital syndrome type 1 -Orphanet:2756 Orofaciodigital syndrome type 10 -Orphanet:141000 Orofaciodigital syndrome type 11 -Orphanet:141327 Orofaciodigital syndrome type 12 -Orphanet:141330 Orofaciodigital syndrome type 13 -Orphanet:434179 Orofaciodigital syndrome type 14 -Orphanet:2751 Orofaciodigital syndrome type 2 -Orphanet:2752 Orofaciodigital syndrome type 3 -Orphanet:2753 Orofaciodigital syndrome type 4 -Orphanet:2919 Orofaciodigital syndrome type 5 -Orphanet:2754 Orofaciodigital syndrome type 6 -Orphanet:2755 Orofaciodigital syndrome type 8 -Orphanet:141007 Orofaciodigital syndrome type 9 -Orphanet:93958 Oromandibular dystonia -Orphanet:156215 Oromandibular-limb anomalies syndrome -Orphanet:2749 Oromandibular-limb hypogenesis syndrome -Orphanet:64692 Oroya fever -Orphanet:97335 Osgood-Schlatter disease -Orphanet:73230 Ossification anomalies-psychomotor developmental delay syndrome -Orphanet:58040 Osteoblastoma -Orphanet:2764 Osteochondritis dissecans -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome -Orphanet:399319 Osteochondrosis -Orphanet:399391 Osteochondrosis of genetic origin -Orphanet:564003 Osteochondrosis of the metatarsal bone -Orphanet:563991 Osteochondrosis of the tarsal bone -Orphanet:2763 Osteocraniostenosis -Orphanet:488265 Osteofibrous dysplasia -Orphanet:666 Osteogenesis imperfecta -Orphanet:216796 Osteogenesis imperfecta type 1 -Orphanet:216804 Osteogenesis imperfecta type 2 -Orphanet:216812 Osteogenesis imperfecta type 3 -Orphanet:216820 Osteogenesis imperfecta type 4 -Orphanet:216828 Osteogenesis imperfecta type 5 -Orphanet:2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome -Orphanet:2645 Osteoglosphonic dysplasia -Orphanet:2777 Osteomesopyknosis -Orphanet:399158 Osteonecrosis -Orphanet:399380 Osteonecrosis of genetic origin -Orphanet:399293 Osteonecrosis of the jaw -Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome -Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome -Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome -Orphanet:2785 Osteopetrosis with renal tubular acidosis -Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome -Orphanet:2787 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome -Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome -Orphanet:2788 Osteoporosis-pseudoglioma syndrome -Orphanet:521127 Osteoradionecrosis of the mandible -Orphanet:668 Osteosarcoma -Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome -Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome -Orphanet:500548 Osteosclerotic metaphyseal dysplasia -Orphanet:90077 Other acquired skin disease -Orphanet:79381 Other dermis disorder -Orphanet:79359 Other epidermal disorder -Orphanet:477808 Other genetic dermis disorder -Orphanet:79360 Other genetic epidermal disease -Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects -Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity -Orphanet:91088 Other metabolic disease -Orphanet:225713 Other metabolic disease with epilepsy -Orphanet:79217 Other metabolic disease with skin involvement -Orphanet:181381 Other rare diabetes mellitus -Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature -Orphanet:102010 Other syndrome with lissencephaly as a major feature -Orphanet:2791 Otodental syndrome -Orphanet:2792 Otofaciocervical syndrome -Orphanet:155896 Otomandibular dysplasia -Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes -Orphanet:2793 Otoonychoperoneal syndrome -Orphanet:364541 Otopalatodigital syndrome spectrum disorder -Orphanet:90650 Otopalatodigital syndrome type 1 -Orphanet:90652 Otopalatodigital syndrome type 2 -Orphanet:1427 Otospondylomegaepiphyseal dysplasia -Orphanet:213500 Ovarian cancer -Orphanet:314473 Ovarian fibroma -Orphanet:314478 Ovarian fibrothecoma -Orphanet:64739 Ovarian hyperstimulation syndrome -Orphanet:99853 Ovarioleukodystrophy -Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement -Orphanet:93460 Overgrowth syndrome -Orphanet:498488 Overgrowth syndrome with 2q37 translocation -Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome -Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome -Orphanet:139024 Overgrowth/obesity syndrome -Orphanet:3203 Overhydrated hereditary stomatocytosis -Orphanet:206572 Overlap myositis -Orphanet:251312 Overlapping connective tissue disease -Orphanet:31 Oxoglutaric aciduria -Orphanet:991 PAGOD syndrome -Orphanet:633099 PAICS deficiency -Orphanet:66624 PANDAS -Orphanet:69126 PAPA syndrome Orphanet:641380 PAPASH syndrome -Orphanet:2825 PARC syndrome -Orphanet:289478 PASH syndrome Orphanet:641385 PASS syndrome -Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome -Orphanet:439822 PDE4D haploinsufficiency syndrome -Orphanet:2836 PEHO syndrome -Orphanet:99807 PEHO-like syndrome -Orphanet:313936 PENS syndrome -Orphanet:42642 PFAPA syndrome -Orphanet:319646 PGM1-CDG -Orphanet:443811 PGM3-CDG -Orphanet:42775 PHACE syndrome -Orphanet:2876 PHAVER syndrome -Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome -Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis -Orphanet:530313 PIK3CA-related overgrowth syndrome -Orphanet:329303 PLA2G6-associated neurodegeneration -Orphanet:521426 PLAA-associated neurodevelopmental disorder -Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation -Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement -Orphanet:537072 PLG-related hereditary angioedema with normal C1Inh -Orphanet:280356 PLIN1-related familial partial lipodystrophy -Orphanet:79318 PMM2-CDG -Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 -Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome -Orphanet:2905 POEMS syndrome -Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 -Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 -Orphanet:565899 POMGNT2-related limb-girdle muscular dystrophy R24 -Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 -Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 -Orphanet:79083 PPARG-related familial partial lipodystrophy -Orphanet:97278 PPoma -Orphanet:412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments -Orphanet:544469 PRUNE1-related neurological syndrome -Orphanet:306498 PTEN hamartoma tumor syndrome -Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome -Orphanet:642747 PUM1-related cerebellar ataxia -Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome -Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation -Orphanet:293633 PYCR1-related De Barsy syndrome -Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy -Orphanet:2796 Pachydermoperiostosis -Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome -Orphanet:2309 Pachyonychia congenita -Orphanet:180275 Paget disease of the nipple -Orphanet:1993 Pai syndrome -Orphanet:617440 Painful legs and moving toes syndrome -Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome -Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome -Orphanet:672 Pallister-Hall syndrome -Orphanet:140966 Palmoplantar keratoderma, Nagashima type -Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome -Orphanet:2202 Palmoplantar keratoderma-deafness syndrome -Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome -Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome -Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome -Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome -Orphanet:309108 Pancreatic colipase deficiency -Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome -Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome -Orphanet:309031 Pancreatic triacylglycerol lipase deficiency -Orphanet:677 Pancreatoblastoma -Orphanet:317473 Pancytopenia due to IKZF1 mutations -Orphanet:401764 Pancytopenia-developmental delay syndrome -Orphanet:95513 Panhypophysitis -Orphanet:97336 Panner disease -Orphanet:90159 Panniculitis-induced localized lipodystrophy -Orphanet:157850 Pantothenate kinase-associated neurodegeneration -Orphanet:280898 Panuveitis -Orphanet:251962 Papillary glioneuronal tumor -Orphanet:319298 Papillary renal cell carcinoma -Orphanet:251915 Papillary tumor of the pineal region -Orphanet:2807 Papilloma of choroid plexus -Orphanet:678 Papillon-Lefèvre syndrome -Orphanet:228264 Papular elastorrhexis -Orphanet:90395 Papular mucinosis of infancy -Orphanet:158008 Papular xanthoma -Orphanet:464458 Paracetamol poisoning -Orphanet:99056 Parachute tricuspid valve -Orphanet:73260 Paracoccidioidomycosis -Orphanet:156224 Paralytic facial malformation -Orphanet:155867 Paramedian facial cleft -Orphanet:141242 Paramedian nasal cleft -Orphanet:684 Paramyotonia congenita of Von Eulenburg -Orphanet:2812 Parana hard skin syndrome -Orphanet:623626 Paraneoplastic cerebellar degeneration -Orphanet:624190 Paraneoplastic isolated brainstem encephalitis -Orphanet:36388 Paraneoplastic neurologic syndrome -Orphanet:63455 Paraneoplastic pemphigus -Orphanet:208999 Paraneoplastic sensory ganglionopathy -Orphanet:279928 Paraneoplastic uveitis -Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome -Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome -Orphanet:31827 Paraquat poisoning -Orphanet:206997 Parasitic myositis -Orphanet:2646 Parastremmatic dwarfism -Orphanet:363478 Paratesticular adenocarcinoma -Orphanet:143 Parathyroid carcinoma -Orphanet:443227 Paratyphoid fever -Orphanet:567983 Parenteral nutrition-associated cholestasis -Orphanet:268826 Parietal encephalocele -Orphanet:251290 Parietal foramina with clavicular hypoplasia -Orphanet:851 Paris-Trousseau thrombocytopenia -Orphanet:90307 Parkes Weber syndrome -Orphanet:90020 Parkinson-dementia complex of Guam -Orphanet:171695 Parkinsonian-pyramidal syndrome -Orphanet:611237 Parkinsonism with polyneuropathy -Orphanet:90035 Paroxysmal cold hemoglobinuria -Orphanet:1431 Paroxysmal dyskinesia -Orphanet:200037 Paroxysmal dystonia -Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity -Orphanet:98811 Paroxysmal exertion-induced dyskinesia -Orphanet:46348 Paroxysmal extreme pain disorder -Orphanet:157835 Paroxysmal hemicrania -Orphanet:98809 Paroxysmal kinesigenic dyskinesia -Orphanet:447 Paroxysmal nocturnal hemoglobinuria -Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia -Orphanet:90797 Partial androgen insensitivity syndrome -Orphanet:1330 Partial atrioventricular septal defect -Orphanet:576232 Partial atrioventricular septal defect with ventricular hypoplasia -Orphanet:576235 Partial atrioventricular septal defect without ventricular hypoplasia -Orphanet:98142 Partial autosomal deletion -Orphanet:98132 Partial autosomal duplication/triplication -Orphanet:1646 Partial chromosome Y deletion -Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome -Orphanet:98950 Partial cryptophthalmia -Orphanet:261766 Partial deletion of chromosome 1 -Orphanet:261811 Partial deletion of chromosome 10 -Orphanet:261816 Partial deletion of chromosome 11 -Orphanet:282124 Partial deletion of chromosome 12 -Orphanet:261826 Partial deletion of chromosome 16 -Orphanet:261831 Partial deletion of chromosome 17 -Orphanet:261836 Partial deletion of chromosome 18 -Orphanet:261841 Partial deletion of chromosome 19 -Orphanet:261771 Partial deletion of chromosome 2 -Orphanet:261846 Partial deletion of chromosome 20 -Orphanet:261776 Partial deletion of chromosome 3 -Orphanet:261781 Partial deletion of chromosome 4 -Orphanet:261786 Partial deletion of chromosome 5 -Orphanet:261791 Partial deletion of chromosome 6 -Orphanet:261796 Partial deletion of chromosome 7 -Orphanet:261801 Partial deletion of chromosome 8 -Orphanet:261806 Partial deletion of chromosome 9 -Orphanet:263726 Partial deletion of chromosome X -Orphanet:262001 Partial deletion of the long arm of chromosome 1 -Orphanet:262083 Partial deletion of the long arm of chromosome 10 -Orphanet:262092 Partial deletion of the long arm of chromosome 11 -Orphanet:261821 Partial deletion of the long arm of chromosome 12 -Orphanet:262101 Partial deletion of the long arm of chromosome 13 -Orphanet:262110 Partial deletion of the long arm of chromosome 14 -Orphanet:262119 Partial deletion of the long arm of chromosome 15 -Orphanet:262128 Partial deletion of the long arm of chromosome 16 -Orphanet:262137 Partial deletion of the long arm of chromosome 17 -Orphanet:262146 Partial deletion of the long arm of chromosome 18 -Orphanet:262155 Partial deletion of the long arm of chromosome 19 -Orphanet:262010 Partial deletion of the long arm of chromosome 2 -Orphanet:262164 Partial deletion of the long arm of chromosome 20 -Orphanet:262173 Partial deletion of the long arm of chromosome 21 -Orphanet:262182 Partial deletion of the long arm of chromosome 22 -Orphanet:262019 Partial deletion of the long arm of chromosome 3 -Orphanet:262029 Partial deletion of the long arm of chromosome 4 -Orphanet:262038 Partial deletion of the long arm of chromosome 5 -Orphanet:262047 Partial deletion of the long arm of chromosome 6 -Orphanet:262056 Partial deletion of the long arm of chromosome 7 -Orphanet:262065 Partial deletion of the long arm of chromosome 8 -Orphanet:262074 Partial deletion of the long arm of chromosome 9 -Orphanet:263756 Partial deletion of the long arm of chromosome X -Orphanet:261857 Partial deletion of the short arm of chromosome 1 -Orphanet:261938 Partial deletion of the short arm of chromosome 10 -Orphanet:261947 Partial deletion of the short arm of chromosome 11 -Orphanet:316244 Partial deletion of the short arm of chromosome 12 -Orphanet:261956 Partial deletion of the short arm of chromosome 16 -Orphanet:261965 Partial deletion of the short arm of chromosome 17 -Orphanet:261974 Partial deletion of the short arm of chromosome 18 -Orphanet:261983 Partial deletion of the short arm of chromosome 19 -Orphanet:261866 Partial deletion of the short arm of chromosome 2 -Orphanet:261992 Partial deletion of the short arm of chromosome 20 -Orphanet:261875 Partial deletion of the short arm of chromosome 3 -Orphanet:261884 Partial deletion of the short arm of chromosome 4 -Orphanet:261893 Partial deletion of the short arm of chromosome 5 -Orphanet:261902 Partial deletion of the short arm of chromosome 6 -Orphanet:261911 Partial deletion of the short arm of chromosome 7 -Orphanet:261920 Partial deletion of the short arm of chromosome 8 -Orphanet:261929 Partial deletion of the short arm of chromosome 9 -Orphanet:263731 Partial deletion of the short arm of the chromosome X -Orphanet:262191 Partial duplication of chromosome 1 -Orphanet:262648 Partial duplication of chromosome 10 -Orphanet:262653 Partial duplication of chromosome 11 -Orphanet:262672 Partial duplication of chromosome 16 -Orphanet:262677 Partial duplication of chromosome 17 -Orphanet:262687 Partial duplication of chromosome 19 -Orphanet:262196 Partial duplication of chromosome 2 -Orphanet:262692 Partial duplication of chromosome 20 -Orphanet:262201 Partial duplication of chromosome 3 -Orphanet:262206 Partial duplication of chromosome 4 -Orphanet:262628 Partial duplication of chromosome 6 -Orphanet:262633 Partial duplication of chromosome 7 -Orphanet:262638 Partial duplication of chromosome 8 -Orphanet:263768 Partial duplication of chromosome X -Orphanet:262833 Partial duplication of the long arm of chromosome 1 -Orphanet:262914 Partial duplication of the long arm of chromosome 10 -Orphanet:262923 Partial duplication of the long arm of chromosome 11 -Orphanet:262932 Partial duplication of the long arm of chromosome 13 -Orphanet:262941 Partial duplication of the long arm of chromosome 14 -Orphanet:262950 Partial duplication of the long arm of chromosome 15 -Orphanet:262959 Partial duplication of the long arm of chromosome 16 -Orphanet:262968 Partial duplication of the long arm of chromosome 17 -Orphanet:262977 Partial duplication of the long arm of chromosome 18 -Orphanet:262986 Partial duplication of the long arm of chromosome 19 -Orphanet:262842 Partial duplication of the long arm of chromosome 2 -Orphanet:262995 Partial duplication of the long arm of chromosome 20 -Orphanet:263004 Partial duplication of the long arm of chromosome 22 -Orphanet:262851 Partial duplication of the long arm of chromosome 3 -Orphanet:262860 Partial duplication of the long arm of chromosome 4 -Orphanet:262869 Partial duplication of the long arm of chromosome 5 -Orphanet:262878 Partial duplication of the long arm of chromosome 6 -Orphanet:262887 Partial duplication of the long arm of chromosome 7 -Orphanet:262896 Partial duplication of the long arm of chromosome 8 -Orphanet:262905 Partial duplication of the long arm of chromosome 9 -Orphanet:263783 Partial duplication of the long arm of chromosome X -Orphanet:264431 Partial duplication of the short arm of chromosome 1 -Orphanet:262776 Partial duplication of the short arm of chromosome 10 -Orphanet:262785 Partial duplication of the short arm of chromosome 11 -Orphanet:262794 Partial duplication of the short arm of chromosome 16 -Orphanet:262803 Partial duplication of the short arm of chromosome 17 -Orphanet:447985 Partial duplication of the short arm of chromosome 19 -Orphanet:262698 Partial duplication of the short arm of chromosome 2 -Orphanet:262707 Partial duplication of the short arm of chromosome 3 -Orphanet:262716 Partial duplication of the short arm of chromosome 4 -Orphanet:262740 Partial duplication of the short arm of chromosome 6 -Orphanet:262749 Partial duplication of the short arm of chromosome 7 -Orphanet:262758 Partial duplication of the short arm of chromosome 8 -Orphanet:263775 Partial duplication of the short arm of chromosome X -Orphanet:262682 Partial duplication/triplication of chromosome 18 -Orphanet:262211 Partial duplication/triplication of chromosome 5 -Orphanet:262643 Partial duplication/triplication of chromosome 9 -Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 -Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 -Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 -Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 -Orphanet:254693 Partial hydatidiform mole -Orphanet:2805 Partial pancreatic agenesis -Orphanet:180129 Partial septate uterus -Orphanet:458785 Partially involuting congenital hemangioma -Orphanet:94083 Partington syndrome -Orphanet:86789 Patella aplasia/hypoplasia -Orphanet:93455 Patellar dysostosis -Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome -Orphanet:431341 Patent urachus -Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome -Orphanet:98154 Paternal uniparental disomy -Orphanet:251004 Paternal uniparental disomy of chromosome 1 -Orphanet:99324 Paternal uniparental disomy of chromosome 13 -Orphanet:96194 Paternal uniparental disomy of chromosome 20 -Orphanet:96195 Paternal uniparental disomy of chromosome 21 -Orphanet:96190 Paternal uniparental disomy of chromosome 5 -Orphanet:96191 Paternal uniparental disomy of chromosome 6 -Orphanet:96192 Paternal uniparental disomy of chromosome 7 -Orphanet:261524 Paternal uniparental disomy of chromosome X -Orphanet:63454 Pattern dystrophy -Orphanet:2439 Patterson-Stevenson-Fontaine syndrome -Orphanet:93126 Pauci-immune glomerulonephritis -Orphanet:97563 Pauci-immune glomerulonephritis with ANCA -Orphanet:97564 Pauci-immune glomerulonephritis without ANCA -Orphanet:699 Pearson syndrome -Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome -Orphanet:439175 Pediatric arterial ischemic stroke -Orphanet:487809 Pediatric collagenous gastritis -Orphanet:33402 Pediatric hepatocellular carcinoma -Orphanet:477738 Pediatric multiple sclerosis -Orphanet:93552 Pediatric systemic lupus erythematosus -Orphanet:525731 Pediatric-onset Graves disease -Orphanet:359 Pediatric-onset glaucoma of genetic origin -Orphanet:817 Peeling skin syndrome -Orphanet:263548 Peeling skin syndrome type A -Orphanet:263553 Peeling skin syndrome type B -Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome -Orphanet:702 Pelizaeus-Merzbacher disease -Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers -Orphanet:280219 Pelizaeus-Merzbacher disease, classic form -Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form -Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form -Orphanet:280270 Pelizaeus-Merzbacher-like disease -Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation -Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation -Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation -Orphanet:97352 Pellagra -Orphanet:137672 Pellucid marginal degeneration -Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome -Orphanet:2839 Pelvis-shoulder dysplasia -Orphanet:93333 Pelviscapular dysplasia -Orphanet:63275 Pemphigoid gestationis -Orphanet:79480 Pemphigus erythematosus -Orphanet:79481 Pemphigus foliaceus -Orphanet:79479 Pemphigus vegetans -Orphanet:704 Pemphigus vulgaris -Orphanet:705 Pendred syndrome -Orphanet:49 Penile agenesis -Orphanet:2842 Penoscrotal transposition -Orphanet:1335 Pentalogy of Cantrell -Orphanet:11 Pentasomy X -Orphanet:2843 Pentosuria -Orphanet:2847 Pericardial and diaphragmatic defect -Orphanet:247623 Perinatal lethal hypophosphatasia -Orphanet:65250 Perineural cyst -Orphanet:85102 Perineurioma -Orphanet:101995 Periodic fever syndrome -Orphanet:324939 Periodic fever syndrome of childhood -Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome -Orphanet:206976 Periodic paralysis -Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy -Orphanet:397755 Periodic paralysis with transient compartment-like syndrome -Orphanet:75392 Periodontal Ehlers-Danlos syndrome -Orphanet:139426 Perioral myoclonia with absences -Orphanet:519400 Peripapillary staphyloma -Orphanet:563 Peripartum cardiomyopathy -Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease -Orphanet:1795 Peripheral dysostosis -Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome -Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy -Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome -Orphanet:370348 Peripheral primitive neuroectodermal tumor -Orphanet:99084 Peripheral pulmonary stenosis -Orphanet:168816 Peritoneal cystic mesothelioma -Orphanet:595133 Perivascular epithelioid cell neoplasm -Orphanet:98892 Periventricular nodular heterotopia -Orphanet:93424 Perlecan-related bone disorder -Orphanet:2849 Perlman syndrome -Orphanet:226292 Permanent congenital hypothyroidism -Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome -Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency -Orphanet:68373 Peroxisomal disease -Orphanet:225686 Peroxisomal disease with epilepsy -Orphanet:79189 Peroxisome biogenesis disorder -Orphanet:2855 Perrault syndrome -Orphanet:642945 Perrault syndrome type 1 -Orphanet:642976 Perrault syndrome type 2 -Orphanet:178509 Perry syndrome -Orphanet:2856 Persistent Müllerian duct syndrome -Orphanet:391711 Persistent combined dystonia -Orphanet:99120 Persistent eustachian valve -Orphanet:99076 Persistent fifth aortic arch -Orphanet:91495 Persistent hyperplastic primary vitreous -Orphanet:398147 Persistent idiopathic facial pain -Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium -Orphanet:99111 Persistent left superior vena cava connecting to the roof of left-sided atrium -Orphanet:97341 Persistent placoid maculopathy -Orphanet:300324 Persistent polyclonal B-cell lymphocytosis -Orphanet:708 Peters anomaly -Orphanet:709 Peters plus syndrome -Orphanet:2869 Peutz-Jeghers syndrome -Orphanet:710 Pfeiffer syndrome -Orphanet:93258 Pfeiffer syndrome type 1 -Orphanet:93259 Pfeiffer syndrome type 2 -Orphanet:93260 Pfeiffer syndrome type 3 -Orphanet:2871 Pfeiffer-Palm-Teller syndrome -Orphanet:209959 Phacoanaphylactic uveitis -Orphanet:79483 Phakomatosis cesioflammea -Orphanet:79484 Phakomatosis cesiomarmorata -Orphanet:2874 Phakomatosis pigmentokeratotica -Orphanet:2875 Phakomatosis pigmentovascularis -Orphanet:79485 Phakomatosis spilorosea -Orphanet:352636 Phalangeal microgeodic syndrome -Orphanet:231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome -Orphanet:1919 Phenobarbital embryopathy -Orphanet:716 Phenylketonuria -Orphanet:573163 Pheochromocytoma-paraganglioma -Orphanet:2879 Phocomelia, Schinzel type -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome -Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency -Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity -Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form -Orphanet:166409 Photosensitive epilepsy -Orphanet:180261 Phyllodes tumor of the breast -Orphanet:498228 Phyllodes tumor of the prostate -Orphanet:2885 Piebald trait-neurologic defects syndrome -Orphanet:2884 Piebaldism -Orphanet:487825 Pierpont syndrome -Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly -Orphanet:138055 Pierre Robin syndrome associated with bone disease -Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies -Orphanet:138041 Pierre Robin syndrome associated with collagen disease -Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome -Orphanet:2670 Pierson syndrome -Orphanet:99908 Pigeon-breeder lung disease -Orphanet:79374 Pigmentation anomaly of the skin -Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome -Orphanet:251295 Pigmented paravenous retinochoroidal atrophy -Orphanet:720 Pili bifurcati -Orphanet:79492 Pili gemini -Orphanet:2889 Pili torti -Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome -Orphanet:2890 Pili torti-onychodysplasia syndrome -Orphanet:251612 Pilocytic astrocytoma -Orphanet:2892 Pilodental dysplasia-refractive errors syndrome -Orphanet:499182 Pilomatrix carcinoma -Orphanet:91414 Pilomatrixoma -Orphanet:251615 Pilomyxoid astrocytoma -Orphanet:251919 Pineal parenchymal tumor of intermediate differenciation -Orphanet:251905 Pineal tumor of neuroepithelial tissue -Orphanet:251909 Pineoblastoma -Orphanet:251912 Pineocytoma -Orphanet:156243 Pinnae and external auditory canal anomaly -Orphanet:155838 Pinnae fistula or cyst -Orphanet:2896 Pitt-Hopkins syndrome -Orphanet:251623 Pituicytoma -Orphanet:99408 Pituitary adenoma -Orphanet:95613 Pituitary apoplexy -Orphanet:300385 Pituitary carcinoma -Orphanet:101957 Pituitary deficiency -Orphanet:91350 Pituitary deficiency due to Rathke cleft cysts -Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome -Orphanet:91351 Pituitary dermoid and epidermoid cysts -Orphanet:99725 Pituitary gigantism -Orphanet:95505 Pituitary hormone deficiency of meningeal origin -Orphanet:95503 Pituitary hormone deficiency of tumoral origin -Orphanet:95611 Pituitary hormone deficiency of vascular origin -Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease -Orphanet:95618 Pituitary hormone deficiency secondary to storage disease -Orphanet:95496 Pituitary stalk interruption syndrome -Orphanet:304055 Pituitary tumor -Orphanet:2897 Pityriasis rubra pilaris -Orphanet:439167 Placental insufficiency -Orphanet:99928 Placental site trophoblastic tumor -Orphanet:707 Plague -Orphanet:158769 Plaque-form urticaria pigmentosa -Orphanet:454714 Plasma cell leukemia -Orphanet:289666 Plasmablastic lymphoma -Orphanet:86855 Plasmacytoma -Orphanet:439881 Plastic bronchitis -Orphanet:85166 Platyspondylic dysplasia, Torrance type -Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 -Orphanet:99969 Pleomorphic liposarcoma -Orphanet:293199 Pleomorphic rhabdomyosarcoma -Orphanet:454821 Pleomorphic salivary gland adenoma -Orphanet:251607 Pleomorphic xanthoastrocytoma -Orphanet:449266 Pleural empyema -Orphanet:50251 Pleural mesothelioma -Orphanet:99131 Pleuro-pericardial cyst -Orphanet:64742 Pleuropulmonary blastoma -Orphanet:99933 Pleuropulmonary blastoma type 1 -Orphanet:99934 Pleuropulmonary blastoma type 2 -Orphanet:99935 Pleuropulmonary blastoma type 3 -Orphanet:54028 Plummer-Vinson syndrome -Orphanet:55655 Pneumococcal meningitis -Orphanet:723 Pneumocystosis -Orphanet:90066 Pneumonia caused by Pseudomonas aeruginosa infection -Orphanet:221046 Poikiloderma with neutropenia -Orphanet:2911 Poland syndrome -Orphanet:2912 Poliomyelitis -Orphanet:767 Polyarteritis nodosa -Orphanet:450322 Polyclonal hyperviscosity syndrome -Orphanet:98427 Polycythemia -Orphanet:729 Polycythemia vera -Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux -Orphanet:93336 Polydactyly of a triphalangeal thumb -Orphanet:93337 Polydactyly of an index finger -Orphanet:2917 Polydactyly-myopia syndrome -Orphanet:180229 Polyembryoma -Orphanet:453533 Polyendocrine-polyneuropathy syndrome -Orphanet:101956 Polyendocrinopathy -Orphanet:397937 Polyglucosan body myopathy type 1 -Orphanet:456369 Polyglucosan body myopathy type 2 -Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome -Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer -Orphanet:447877 Polymerase proofreading-related adenomatous polyposis -Orphanet:35981 Polymicrogyria -Orphanet:300573 Polymicrogyria due to TUBB2B mutation -Orphanet:250972 Polymicrogyria with optic nerve hypoplasia -Orphanet:93569 Polymyalgia rheumatica -Orphanet:732 Polymyositis -Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG -Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -Orphanet:2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome -Orphanet:93276 Polyostotic fibrous dysplasia -Orphanet:96321 Polyploidy -Orphanet:141091 Polyrrhinia -Orphanet:263723 Polysomy of X chromosome -Orphanet:93338 Polysyndactyly -Orphanet:2934 Polysyndactyly-cardiac malformation syndrome -Orphanet:228410 Polyvalvular heart disease syndrome -Orphanet:99748 Pontiac fever -Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy -Orphanet:269229 Pontine tegmental cap dysplasia -Orphanet:2254 Pontocerebellar hypoplasia type 1 -Orphanet:411493 Pontocerebellar hypoplasia type 10 -Orphanet:611247 Pontocerebellar hypoplasia type 11 -Orphanet:611256 Pontocerebellar hypoplasia type 12 -Orphanet:613267 Pontocerebellar hypoplasia type 13 -Orphanet:613274 Pontocerebellar hypoplasia type 14 -Orphanet:2524 Pontocerebellar hypoplasia type 2 -Orphanet:97249 Pontocerebellar hypoplasia type 3 -Orphanet:166063 Pontocerebellar hypoplasia type 4 -Orphanet:166073 Pontocerebellar hypoplasia type 6 -Orphanet:284339 Pontocerebellar hypoplasia type 7 -Orphanet:324569 Pontocerebellar hypoplasia type 8 -Orphanet:369920 Pontocerebellar hypoplasia type 9 -Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma -Orphanet:294963 Popliteal pterygium syndrome -Orphanet:2940 Porencephaly -Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome -Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome -Orphanet:79358 Porokeratosis -Orphanet:735 Porokeratosis of Mibelli -Orphanet:737 Porokeratosis plantaris palmaris et disseminata -Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus -Orphanet:738 Porphyria -Orphanet:101330 Porphyria cutanea tarda -Orphanet:100924 Porphyria due to ALA dehydratase deficiency -Orphanet:79473 Porphyria variegata -Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome -Orphanet:596937 Portosinusoidal vascular disease -Orphanet:70568 Post-transplant lymphoproliferative disease -Orphanet:95619 Post-traumatic pituitary deficiency -Orphanet:246 Postaxial acrofacial dysostosis -Orphanet:93334 Postaxial polydactyly type A -Orphanet:93335 Postaxial polydactyly type B -Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome -Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome -Orphanet:2730 Postaxial tetramelic oligodactyly -Orphanet:97349 Postencephalitic parkinsonism -Orphanet:98971 Posterior amorphous corneal dystrophy -Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome -Orphanet:98627 Posterior corneal dystrophy -Orphanet:54247 Posterior cortical atrophy +Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome +Orphanet:658913 Paragonimiasis +Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome Orphanet:645294 Posterior extramedullary conus spinal cord lipoma -Orphanet:98519 Posterior fossa malformation -Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome -Orphanet:98973 Posterior polymorphous corneal dystrophy -Orphanet:93110 Posterior urethral valve -Orphanet:280892 Posterior uveitis -Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome -Orphanet:306727 Postinfectious autoimmune disease with chorea -Orphanet:624244 Postinfectious cerebellitis -Orphanet:48435 Postinfectious vasculitis -Orphanet:477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome -Orphanet:279947 Postorgasmic illness syndrome -Orphanet:443173 Postpartum psychosis -Orphanet:2942 Postpoliomyelitis syndrome -Orphanet:98913 Postsynaptic congenital myasthenic syndromes -Orphanet:163921 Posttransplant acute limbic encephalitis -Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency -Orphanet:612 Potassium-aggravated myotonia -Orphanet:52022 Potocki-Shaffer syndrome -Orphanet:217067 Pouchitis -Orphanet:397606 PrP systemic amyloidosis -Orphanet:739 Prader-Willi syndrome -Orphanet:177910 Prader-Willi syndrome due to imprinting mutation -Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 -Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion -Orphanet:177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 -Orphanet:177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 -Orphanet:177907 Prader-Willi syndrome due to translocation -Orphanet:398073 Prader-Willi-like syndrome -Orphanet:293462 Pre-Descemet corneal dystrophy -Orphanet:633211 Preaxial digit brachydactyly-webbed fingers -Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome -Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia -Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia -Orphanet:240839 Prediction of 5-fluorouracil toxicity -Orphanet:240841 Prediction of abacavir toxicity -Orphanet:240845 Prediction of allopurinol toxicity -Orphanet:240863 Prediction of cisplatin toxicity -Orphanet:240867 Prediction of codeine toxicity -Orphanet:413693 Prediction of curariform drugs toxicity -Orphanet:596744 Prediction of dolutegravir toxicity -Orphanet:240869 Prediction of efavirenz toxicity -Orphanet:240871 Prediction of flucloxacilline toxicity -Orphanet:240885 Prediction of irinotecan toxicity -Orphanet:240887 Prediction of isoniazid toxicity -Orphanet:574637 Prediction of ivermectin toxicity -Orphanet:414750 Prediction of phenytoin or carbamazepine toxicity -Orphanet:240905 Prediction of raltegravir toxicity -Orphanet:413696 Prediction of statin toxicity -Orphanet:574671 Prediction of toxicity or dose selection of belinostat -Orphanet:240921 Prediction of voriconazole toxicity -Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency -Orphanet:574918 Predisposition to severe viral infection due to IRF7 deficiency -Orphanet:156140 Predominantly large-vessel vasculitis -Orphanet:156143 Predominantly medium-vessel vasculitis -Orphanet:156146 Predominantly small-vessel vasculitis -Orphanet:275555 Preeclampsia -Orphanet:79389 Premature aging -Orphanet:95486 Premature closure of the arterial duct -Orphanet:247638 Prenatal benign hypophosphatasia -Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures -Orphanet:525738 Prepubertal anorexia nervosa -Orphanet:90160 Pressure-induced localized lipoatrophy -Orphanet:98914 Presynaptic congenital myasthenic syndromes -Orphanet:169464 Primary CD59 deficiency -Orphanet:3337 Primary Fanconi renotubular syndrome -Orphanet:289390 Primary Sjögren syndrome -Orphanet:98872 Primary acquired pure red cell aplasia -Orphanet:101958 Primary adrenal insufficiency -Orphanet:874 Primary adult heart tumor -Orphanet:228272 Primary anetoderma -Orphanet:140989 Primary angiitis of the central nervous system -Orphanet:522037 Primary autoimmune enteropathy -Orphanet:399302 Primary avascular necrosis -Orphanet:2285 Primary basilar invagination -Orphanet:186 Primary biliary cholangitis -Orphanet:562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome -Orphanet:645822 Primary bone and joint tuberculosis -Orphanet:364526 Primary bone dysplasia -Orphanet:93446 Primary bone dysplasia with decreased bone density -Orphanet:93447 Primary bone dysplasia with defective bone mineralization -Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components -Orphanet:93444 Primary bone dysplasia with increased bone density -Orphanet:364536 Primary bone dysplasia with micromelia -Orphanet:93441 Primary bone dysplasia with multiple joint dislocations -Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments -Orphanet:314684 Primary bone lymphoma -Orphanet:46135 Primary central nervous system lymphoma Orphanet:650087 Primary central precocious puberty in male -Orphanet:244 Primary ciliary dyskinesia -Orphanet:247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome -Orphanet:477781 Primary condylar hyperplasia -Orphanet:226295 Primary congenital hypothyroidism -Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly -Orphanet:178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma -Orphanet:178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma -Orphanet:137807 Primary cutaneous amyloidosis -Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma -Orphanet:178544 Primary cutaneous diffuse large B-cell lymphoma, leg type -Orphanet:178540 Primary cutaneous follicle center lymphoma -Orphanet:178533 Primary cutaneous gamma/delta-positive T-cell lymphoma -Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma -Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified -Orphanet:451602 Primary cutaneous plasmacytosis -Orphanet:645849 Primary cutaneous tuberculosis -Orphanet:671 Primary cutis verticis gyrata -Orphanet:565641 Primary desmosis coli -Orphanet:98807 Primary dystonia, DYT13 type -Orphanet:370103 Primary dystonia, DYT17 type -Orphanet:99657 Primary dystonia, DYT2 type -Orphanet:306734 Primary dystonia, DYT21 type -Orphanet:464440 Primary dystonia, DYT27 type -Orphanet:98805 Primary dystonia, DYT4 type -Orphanet:98806 Primary dystonia, DYT6 type -Orphanet:156005 Primary early-onset glaucoma -Orphanet:48686 Primary effusion lymphoma -Orphanet:402029 Primary eosinophilic gastrointestinal disease -Orphanet:90026 Primary erythromelalgia -Orphanet:357220 Primary essential cutis verticis gyrata -Orphanet:412206 Primary failure of tooth eruption -Orphanet:90042 Primary familial polycythemia -Orphanet:645874 Primary genito-urinary tuberculosis -Orphanet:100085 Primary hepatic neuroendocrine carcinoma -Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome -Orphanet:314950 Primary hypereosinophilic syndrome -Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome -Orphanet:416 Primary hyperoxaluria -Orphanet:93598 Primary hyperoxaluria type 1 -Orphanet:93599 Primary hyperoxaluria type 2 -Orphanet:93600 Primary hyperoxaluria type 3 -Orphanet:248095 Primary hypertrophic osteoarthropathy -Orphanet:306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis -Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement -Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement -Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia -Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome -Orphanet:95506 Primary hypophysitis -Orphanet:101997 Primary immunodeficiency -Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity -Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency -Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection -Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection -Orphanet:90362 Primary intestinal lymphangiectasia -Orphanet:480506 Primary intrahepatic lithiasis -Orphanet:458768 Primary intralymphatic angioendothelioma -Orphanet:279904 Primary intraocular lymphoma -Orphanet:140436 Primary intraosseous venous malformation -Orphanet:137926 Primary laryngeal lymphangioma -Orphanet:35689 Primary lateral sclerosis -Orphanet:90970 Primary lipodystrophy -Orphanet:314709 Primary localized amyloidosis -Orphanet:77240 Primary lymphedema -Orphanet:568044 Primary lymphedema with systemic or visceral involvement -Orphanet:568041 Primary lymphedema without systemic or visceral involvement -Orphanet:319667 Primary lymphoma of the conjunctiva -Orphanet:98838 Primary mediastinal large B-cell lymphoma -Orphanet:238642 Primary megaureter, adult-onset form -Orphanet:252028 Primary melanocytic tumor of central nervous system -Orphanet:252050 Primary melanoma of the central nervous system -Orphanet:54370 Primary membranoproliferative glomerulonephritis -Orphanet:97560 Primary membranous glomerulonephritis -Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome -Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome -Orphanet:824 Primary myelofibrosis -Orphanet:306750 Primary myoclonus -Orphanet:357225 Primary non-essential cutis verticis gyrata -Orphanet:289356 Primary non-gestational choriocarcinoma of ovary -Orphanet:279897 Primary oculocerebral lymphoma -Orphanet:521236 Primary orthostatic disorder -Orphanet:182058 Primary orthostatic hypotension -Orphanet:238606 Primary orthostatic tremor -Orphanet:93449 Primary osteolysis -Orphanet:875 Primary pediatric heart tumor -Orphanet:168829 Primary peritoneal carcinoma -Orphanet:168803 Primary peritoneal tumor -Orphanet:100021 Primary plasmacytoma of the bone -Orphanet:439737 Primary polyarteritis nodosa -Orphanet:95432 Primary progressive aphasia -Orphanet:314566 Primary progressive apraxia of speech -Orphanet:75567 Primary progressive freezing gait -Orphanet:2257 Primary pulmonary hypoplasia -Orphanet:2420 Primary pulmonary lymphoma -Orphanet:645814 Primary pulmonary tuberculosis -Orphanet:642071 Primary pulmonary vein stenosis -Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan -Orphanet:314822 Primary renal tubular acidosis -Orphanet:171 Primary sclerosing cholangitis -Orphanet:99856 Primary syringomyelia -Orphanet:314701 Primary systemic amyloidosis -Orphanet:268861 Primary tethered cord syndrome -Orphanet:565612 Primary triglyceride deposit cardiomyovasculopathy -Orphanet:645859 Primary tuberculosis of the digestive system -Orphanet:645807 Primary tuberculous lymphadenitis -Orphanet:231580 Primary unilateral adrenal hyperplasia -Orphanet:213812 Primitive neuroectodermal tumor of the cervix uteri -Orphanet:213630 Primitive neuroectodermal tumor of the corpus uteri -Orphanet:854 Primitive portal vein thrombosis -Orphanet:141099 Proboscis lateralis -Orphanet:2959 Progeria-short stature-pigmented nevi syndrome -Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome -Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome -Orphanet:139033 Progeroid syndrome -Orphanet:2963 Progeroid syndrome, Petty type -Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome -Orphanet:75373 Progressive bifocal chorioretinal atrophy -Orphanet:139447 Progressive cavitating leukoencephalopathy -Orphanet:247198 Progressive cerebello-cerebral atrophy -Orphanet:1871 Progressive cone dystrophy -Orphanet:3235 Progressive deafness with stapes fixation -Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies -Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus -Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency -Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type -Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome -Orphanet:520820 Progressive external ophthalmoplegia -Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome -Orphanet:172 Progressive familial intrahepatic cholestasis -Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 -Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 -Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 -Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 -Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 -Orphanet:1214 Progressive hemifacial atrophy -Orphanet:477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -Orphanet:217260 Progressive multifocal leukoencephalopathy -Orphanet:454706 Progressive muscular atrophy -Orphanet:206644 Progressive muscular dystrophy -Orphanet:98261 Progressive myoclonic epilepsy -Orphanet:308 Progressive myoclonic epilepsy type 1 -Orphanet:263516 Progressive myoclonic epilepsy type 3 -Orphanet:402082 Progressive myoclonic epilepsy type 5 -Orphanet:280620 Progressive myoclonic epilepsy type 6 -Orphanet:435438 Progressive myoclonic epilepsy type 7 -Orphanet:424027 Progressive myoclonic epilepsy type 8 -Orphanet:457265 Progressive myoclonic epilepsy type 9 -Orphanet:352596 Progressive myoclonic epilepsy with dystonia +Orphanet:652678 Primary inferior vena cava aneurysm +Orphanet:652668 Primary superior vena cava aneurysm Orphanet:530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies -Orphanet:158022 Progressive nodular histiocytosis -Orphanet:100070 Progressive non-fluent aphasia -Orphanet:2062 Progressive non-infectious anterior vertebral fusion -Orphanet:2762 Progressive osseous heteroplasia -Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis -Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood -Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect -Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy -Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome -Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome -Orphanet:683 Progressive supranuclear palsy -Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome -Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome -Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome -Orphanet:316 Progressive symmetric erythrokeratodermia -Orphanet:2965 Prolactinoma -Orphanet:742 Prolidase deficiency -Orphanet:492 Proliferating trichilemmal cyst -Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome -Orphanet:2966 Properdin deficiency -Orphanet:35 Propionic acidemia -Orphanet:485358 Propylthiouracil embryofetopathy -Orphanet:324977 Proteasome-associated autoinflammatory syndrome -Orphanet:26349 Protein S acquired deficiency -Orphanet:744 Proteus syndrome -Orphanet:2969 Proteus-like syndrome -Orphanet:411696 Proton-pump inhibitor-responsive esophageal eosinophilia -Orphanet:251598 Protoplasmic astrocytoma -Orphanet:261197 Proximal 16p11.2 microdeletion syndrome -Orphanet:370079 Proximal 16p11.2 microduplication syndrome -Orphanet:1762 Proximal Xq28 duplication syndrome -Orphanet:633228 Proximal femoral focal deficiency -Orphanet:401768 Proximal myopathy with extrapyramidal signs -Orphanet:521305 Proximal myopathy with focal depletion of mitochondria -Orphanet:606 Proximal myotonic myopathy -Orphanet:47159 Proximal renal tubular acidosis -Orphanet:70 Proximal spinal muscular atrophy -Orphanet:83330 Proximal spinal muscular atrophy type 1 -Orphanet:83418 Proximal spinal muscular atrophy type 2 -Orphanet:83419 Proximal spinal muscular atrophy type 3 -Orphanet:83420 Proximal spinal muscular atrophy type 4 -Orphanet:3250 Proximal symphalangism -Orphanet:2970 Prune belly syndrome -Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy Orphanet:641390 PsAPASH syndrome -Orphanet:314459 Pseudo-Meigs syndrome -Orphanet:52530 Pseudo-von Willebrand disease -Orphanet:750 Pseudoachondroplasia -Orphanet:221120 Pseudoaminopterin syndrome -Orphanet:85174 Pseudodiastrophic dysplasia -Orphanet:444916 Pseudohypoaldosteronism -Orphanet:756 Pseudohypoaldosteronism type 1 -Orphanet:757 Pseudohypoaldosteronism type 2 -Orphanet:88938 Pseudohypoaldosteronism type 2A -Orphanet:88939 Pseudohypoaldosteronism type 2B -Orphanet:88940 Pseudohypoaldosteronism type 2C -Orphanet:300525 Pseudohypoaldosteronism type 2D -Orphanet:300530 Pseudohypoaldosteronism type 2E -Orphanet:97593 Pseudohypoparathyroidism -Orphanet:79443 Pseudohypoparathyroidism type 1A -Orphanet:94089 Pseudohypoparathyroidism type 1B -Orphanet:79444 Pseudohypoparathyroidism type 1C -Orphanet:94090 Pseudohypoparathyroidism type 2 -Orphanet:457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy -Orphanet:457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy -Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type -Orphanet:26790 Pseudomyxoma peritonei -Orphanet:519339 Pseudopapilledema -Orphanet:129 Pseudopelade of Brocq -Orphanet:2985 Pseudoprogeria syndrome -Orphanet:79445 Pseudopseudohypoparathyroidism -Orphanet:83316 Pseudotyphus of California -Orphanet:180079 Pseudounicornuate uterus -Orphanet:758 Pseudoxanthoma elasticum -Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis -Orphanet:436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa -Orphanet:280794 Pseudoxanthomatous diffuse cutaneous mastocytosis -Orphanet:85436 Psoriasis-related juvenile idiopathic arthritis -Orphanet:71519 Psychogenic movement disorders -Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome -Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency -Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome -Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome -Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome -Orphanet:2997 Ptosis-vocal cord paralysis syndrome -Orphanet:60039 Pudendal neuralgia -Orphanet:984 Pulmonary agenesis -Orphanet:60025 Pulmonary alveolar microlithiasis -Orphanet:2038 Pulmonary arteriovenous malformation -Orphanet:99049 Pulmonary artery coming from patent ductus arteriosus -Orphanet:99083 Pulmonary artery hypoplasia -Orphanet:98719 Pulmonary artery or pulmonary branch anomaly -Orphanet:1207 Pulmonary atresia with ventricular septal defect -Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome -Orphanet:64741 Pulmonary blastoma -Orphanet:199241 Pulmonary capillary hemangiomatosis -Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome -Orphanet:275837 Pulmonary hypertension owing to lung disease and/or hypoxia -Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism -Orphanet:217557 Pulmonary interstitial glycogenosis -Orphanet:60026 Pulmonary nodular lymphoid hyperplasia -Orphanet:411703 Pulmonary non-tuberculous mycobacterial infection -Orphanet:982 Pulmonary valve agenesis -Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome -Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome -Orphanet:431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis -Orphanet:31837 Pulmonary venoocclusive disease -Orphanet:98984 Pulverulent cataract -Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation -Orphanet:580951 Punctate inner choroidopathy -Orphanet:307967 Punctate palmoplantar keratoderma -Orphanet:79501 Punctate palmoplantar keratoderma type 1 -Orphanet:79502 Punctate palmoplantar keratoderma type 2 -Orphanet:441 Pure autonomic failure -Orphanet:69084 Pure hair and nail ectodermal dysplasia -Orphanet:102012 Pure hereditary spastic paraplegia -Orphanet:254854 Pure mitochondrial myopathy -Orphanet:320350 Pure or complex X-linked spastic paraplegia -Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia -Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia -Orphanet:320335 Pure or complex hereditary spastic paraplegia -Orphanet:760 Purine nucleoside phosphorylase deficiency -Orphanet:538866 Pustular pyoderma gangrenosum -Orphanet:163927 Pustulosis palmaris et plantaris -Orphanet:763 Pycnodysostosis -Orphanet:3003 Pyknoachondrogenesis -Orphanet:3005 Pyle disease -Orphanet:48104 Pyoderma gangrenosum -Orphanet:324927 Pyogenic autoinflammatory syndrome -Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood -Orphanet:764 Pyomyositis -Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome -Orphanet:79096 Pyridoxal phosphate-responsive seizures -Orphanet:3006 Pyridoxine-dependent epilepsy -Orphanet:3008 Pyruvate carboxylase deficiency -Orphanet:353320 Pyruvate carboxylase deficiency, benign type -Orphanet:353308 Pyruvate carboxylase deficiency, infantile type -Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type -Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency -Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency -Orphanet:79244 Pyruvate dehydrogenase E2 deficiency -Orphanet:2394 Pyruvate dehydrogenase E3 deficiency -Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency -Orphanet:765 Pyruvate dehydrogenase deficiency -Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency -Orphanet:254746 Pyruvate metabolism disorder -Orphanet:781 Q fever -Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome -Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect -Orphanet:3010 Qazi-Markouizos syndrome -Orphanet:542568 Quadricuspid aortic valve -Orphanet:207119 Qualitative or quantitative defects of FKRP -Orphanet:207107 Qualitative or quantitative defects of TRIM32 -Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 -Orphanet:209059 Qualitative or quantitative defects of alpha-actin -Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan -Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan -Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin -Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) -Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan -Orphanet:207104 Qualitative or quantitative defects of calpain -Orphanet:207078 Qualitative or quantitative defects of caveolin-3 -Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan -Orphanet:209041 Qualitative or quantitative defects of desmin -Orphanet:207073 Qualitative or quantitative defects of dysferlin -Orphanet:207085 Qualitative or quantitative defects of dystrophin -Orphanet:209188 Qualitative or quantitative defects of emerin -Orphanet:209047 Qualitative or quantitative defects of filamin C -Orphanet:207122 Qualitative or quantitative defects of fukutin -Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan -Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - -Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 -Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins -Orphanet:207110 Qualitative or quantitative defects of myotubularin -Orphanet:209182 Qualitative or quantitative defects of nebulin -Orphanet:207101 Qualitative or quantitative defects of perlecan -Orphanet:209196 Qualitative or quantitative defects of plectin -Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase -Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 -Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 -Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 -Orphanet:209050 Qualitative or quantitative defects of protein ZASP -Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like -Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan -Orphanet:207052 Qualitative or quantitative defects of sarcoglycan -Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 -Orphanet:209056 Qualitative or quantitative defects of telethonin -Orphanet:209053 Qualitative or quantitative defects of titin -Orphanet:284790 Qualitative or quantitative defects of tropomyosin -Orphanet:284786 Qualitative or quantitative defects of troponin -Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases -Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect -Orphanet:220436 Quebec platelet disorder -Orphanet:346 Quinquaud folliculitis decalvans -Orphanet:3021 RAPADILINO syndrome -Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy -Orphanet:268114 RAS-associated autoimmune leukoproliferative disease -Orphanet:536391 RASopathy -Orphanet:530792 RELA fusion-positive ependymoma -Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease -Orphanet:494344 RERE-related neurodevelopmental syndrome -Orphanet:244310 RFT1-CDG -Orphanet:572543 RFVT2-related riboflavin transporter deficiency -Orphanet:572550 RFVT3-related riboflavin transporter deficiency -Orphanet:140976 RHYNS syndrome -Orphanet:420741 RIDDLE syndrome -Orphanet:217335 RIN2 syndrome -Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy -Orphanet:770 Rabies -Orphanet:769 Rabson-Mendenhall syndrome -Orphanet:1121 Radial deficiency-tibial hypoplasia syndrome -Orphanet:93321 Radial hemimelia -Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome -Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome -Orphanet:90021 Radiation myelitis -Orphanet:70475 Radiation proctitis -Orphanet:521132 Radiation-induced disorder -Orphanet:521123 Radiation-induced plexopathy -Orphanet:3015 Radio-renal syndrome -Orphanet:295219 Radio-ulnar synostosis, bilateral -Orphanet:295217 Radio-ulnar synostosis, unilateral -Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome -Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome -Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome -Orphanet:3019 Ramon syndrome -Orphanet:1051 Ramos-Arroyo syndrome -Orphanet:3020 Ramsay Hunt syndrome -Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome -Orphanet:71517 Rapid-onset dystonia-parkinsonism -Orphanet:141184 Rapidly involuting congenital hemangioma -Orphanet:90625 Rare X-linked non-syndromic sensorineural deafness type DFN -Orphanet:165711 Rare abdominal surgical disease -Orphanet:248302 Rare acquired deficiency anemia -Orphanet:182047 Rare acquired hemolytic anemia -Orphanet:213528 Rare adenocarcinoma of the breast -Orphanet:101954 Rare adrenal disease Orphanet:649017 Rare adrenocortical nodular disease Orphanet:647768 Rare adrenocortical nodular disease with Cushing syndrome as a major feature -Orphanet:177101 Rare adult hypothyroidism -Orphanet:98050 Rare allergic disease -Orphanet:98052 Rare allergic respiratory disease -Orphanet:108997 Rare anemia -Orphanet:211266 Rare arteriovenous malformation -Orphanet:102002 Rare ataxia -Orphanet:98727 Rare atrial defect and interatrial communication -Orphanet:423662 Rare autonomic nervous system disorder -Orphanet:90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA -Orphanet:90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB -Orphanet:163582 Rare bacterial infectious disease -Orphanet:180253 Rare benign breast tumor -Orphanet:97293 Rare benign ovarian tumor -Orphanet:101941 Rare biliary tract disease -Orphanet:139012 Rare bone development disorder -Orphanet:93419 Rare bone disease -Orphanet:364803 Rare bone disease related to a common gene or pathway defect -Orphanet:68411 Rare bone tumor -Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature -Orphanet:180163 Rare breast malformation -Orphanet:180250 Rare breast tumor -Orphanet:101945 Rare bronchopulmonary tumor -Orphanet:213761 Rare cancer of cervix uteri -Orphanet:213569 Rare cancer of corpus uteri -Orphanet:211247 Rare capillary malformation -Orphanet:458830 Rare capillary malformation with associated anomalies -Orphanet:217074 Rare carcinoma of pancreas -Orphanet:423771 Rare carcinoma of stomach -Orphanet:97929 Rare cardiac disease -Orphanet:218436 Rare cardiac rhythm disease -Orphanet:168194 Rare cardiac tumor -Orphanet:167848 Rare cardiomyopathy -Orphanet:93618 Rare cause of hypertension -Orphanet:71281 Rare central nervous system and retinal vascular disease Orphanet:650063 Rare central precocious puberty Orphanet:650070 Rare central precocious puberty in female -Orphanet:98549 Rare cerebrovascular dementia -Orphanet:306715 Rare choreic movement disorder -Orphanet:68335 Rare chromosomal anomaly -Orphanet:98028 Rare circulatory system disease -Orphanet:98429 Rare coagulation disorder -Orphanet:458837 Rare combined vascular malformation -Orphanet:474347 Rare congenital anomaly of ventricular septum -Orphanet:88991 Rare congenital non-syndromic heart malformation -Orphanet:519280 Rare conjunctivitis -Orphanet:183651 Rare constitutional anemia -Orphanet:182043 Rare constitutional hemolytic anemia -Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly -Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder -Orphanet:254370 Rare cutaneous lichen planus -Orphanet:535 Rare cutaneous lupus erythematosus -Orphanet:68361 Rare deafness -Orphanet:248293 Rare deficiency anemia -Orphanet:89043 Rare dementia -Orphanet:93890 Rare developmental defect during embryogenesis -Orphanet:139030 Rare developmental defect with connective tissue involvement -Orphanet:139027 Rare developmental defect with skin/mucosae involvement -Orphanet:101952 Rare diabetes mellitus -Orphanet:181371 Rare diabetes mellitus type 1 -Orphanet:181376 Rare diabetes mellitus type 2 -Orphanet:98059 Rare digestive tumor -Orphanet:138044 Rare disease with Pierre Robin syndrome -Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature -Orphanet:180772 Rare disease with autism -Orphanet:167762 Rare disease with dentinogenesis imperfecta -Orphanet:98638 Rare disease with glaucoma as a major feature -Orphanet:466658 Rare disease with malignant hyperthermia -Orphanet:306753 Rare disease with myoclonus as a major feature -Orphanet:98027 Rare disease with odontological manifestation -Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection Orphanet:617313 Rare disorder due to inadequate sharing of the placenta -Orphanet:556508 Rare disorder due to poisoning -Orphanet:108999 Rare disorder due to toxic effects Orphanet:617310 Rare disorder due to unbalanced inter-twin blood transfusion -Orphanet:98602 Rare disorder of the lacrimal apparatus -Orphanet:520814 Rare disorder of the visual organs -Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation -Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium -Orphanet:477771 Rare disorder with a moyamoya angiopathy -Orphanet:98610 Rare disorder with conjunctival involvement as a major feature Orphanet:519288 Rare disorder with corneal involvement as a major feature -Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation -Orphanet:519270 Rare disorder with entropion -Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism -Orphanet:79365 Rare disorder with hypertrichosis -Orphanet:98640 Rare disorder with lens opacification -Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism -Orphanet:399824 Rare disorder with obstructive azoospermia Orphanet:519296 Rare disorder with pigmented sclera -Orphanet:98578 Rare disorder with ptosis -Orphanet:98681 Rare disorder with strabismus -Orphanet:101953 Rare dyslipidemia -Orphanet:68363 Rare dystonia -Orphanet:97978 Rare endocrine disease -Orphanet:90692 Rare endocrine growth disease -Orphanet:101998 Rare epilepsy -Orphanet:424033 Rare epithelial tumor of pancreas -Orphanet:63443 Rare epithelial tumor of stomach -Orphanet:101950 Rare eye tumor -Orphanet:98594 Rare eyebrow/eyelash disorder -Orphanet:98567 Rare eyelid malposition disorder -Orphanet:98049 Rare female infertility -Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism -Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin -Orphanet:399849 Rare female infertility due to an adrenal disorder -Orphanet:399853 Rare female infertility due to an anomaly of ovarian function -Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin -Orphanet:399882 Rare female infertility due to an implantation defect -Orphanet:399877 Rare female infertility due to gonadal dysgenesis -Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder -Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -Orphanet:404469 Rare female infertility due to oocyte maturation defect -Orphanet:795 Rare form of salmonellosis -Orphanet:97935 Rare gastroenterologic disease -Orphanet:101936 Rare gastroesophageal disease -Orphanet:180821 Rare gastroesophageal tumor -Orphanet:183637 Rare genetic adrenal disease -Orphanet:434786 Rare genetic autonomic nervous system disorder -Orphanet:404584 Rare genetic bone development disorder -Orphanet:183524 Rare genetic bone disease Orphanet:522506 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature -Orphanet:459526 Rare genetic capillary malformation -Orphanet:98054 Rare genetic cardiac disease -Orphanet:156629 Rare genetic cause of hypertension -Orphanet:183654 Rare genetic coagulation disorder -Orphanet:96210 Rare genetic deafness -Orphanet:183530 Rare genetic developmental defect during embryogenesis -Orphanet:183625 Rare genetic diabetes mellitus -Orphanet:98053 Rare genetic disease -Orphanet:307067 Rare genetic disease with myoclonus as a major feature Orphanet:522532 Rare genetic disorder of the lacrimal apparatus -Orphanet:522504 Rare genetic disorder of the visual organs Orphanet:522558 Rare genetic disorder with corneal involvement as a major feature Orphanet:522530 Rare genetic disorder with entropion Orphanet:522546 Rare genetic disorder with lens opacification -Orphanet:400003 Rare genetic disorder with obstructive azoospermia Orphanet:522518 Rare genetic disorder with strabismus -Orphanet:391799 Rare genetic dystonia -Orphanet:156638 Rare genetic endocrine disease -Orphanet:183512 Rare genetic epilepsy -Orphanet:101435 Rare genetic eye disease Orphanet:522528 Rare genetic eyelid malposition disorder -Orphanet:400008 Rare genetic female infertility -Orphanet:165652 Rare genetic gastroenterological disease -Orphanet:183731 Rare genetic gynecological and obstetrical diseases -Orphanet:183509 Rare genetic headache -Orphanet:158300 Rare genetic hematologic disease -Orphanet:156601 Rare genetic hepatic disease -Orphanet:496916 Rare genetic hyperkinetic movement disorder -Orphanet:183628 Rare genetic hypothalamic or pituitary disease -Orphanet:183770 Rare genetic immune disease Orphanet:522566 Rare genetic inflammatory/autoimmune corneal disorder -Orphanet:183757 Rare genetic intellectual disability Orphanet:522574 Rare genetic macular disorder -Orphanet:399980 Rare genetic male infertility -Orphanet:183515 Rare genetic medullar disease -Orphanet:183521 Rare genetic movement disorder -Orphanet:307064 Rare genetic myoclonus -Orphanet:71859 Rare genetic neurological disorder Orphanet:522522 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly Orphanet:522516 Rare genetic ocular motility/alignment disorder -Orphanet:420755 Rare genetic odontal or periodontal disorder -Orphanet:77830 Rare genetic odontologic disease Orphanet:522508 Rare genetic ophthalmic disorder with cortical involvement Orphanet:522510 Rare genetic ophthalmic disorder with cranial nerve involvement Orphanet:522512 Rare genetic optic nerve disorder Orphanet:522526 Rare genetic palpebral disorder -Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder -Orphanet:307052 Rare genetic parkinsonian disorder -Orphanet:98056 Rare genetic renal disease -Orphanet:156610 Rare genetic respiratory disease Orphanet:522576 Rare genetic retinal vasculopathy -Orphanet:68346 Rare genetic skin disease -Orphanet:183763 Rare genetic syndromic intellectual disability -Orphanet:271870 Rare genetic systemic or rheumatologic disease -Orphanet:183631 Rare genetic thyroid disease -Orphanet:307061 Rare genetic tremor disorder -Orphanet:68336 Rare genetic tumor -Orphanet:156619 Rare genetic urogenital disease -Orphanet:233655 Rare genetic vascular disease -Orphanet:459543 Rare genetic vascular tumor -Orphanet:459548 Rare genetic venous malformation -Orphanet:96344 Rare gynecologic or obstetric disease -Orphanet:98063 Rare gynecological tumor -Orphanet:155832 Rare head and neck malformation -Orphanet:290849 Rare head and neck tumor -Orphanet:98022 Rare headache -Orphanet:97992 Rare hematologic disease -Orphanet:98363 Rare hemolytic anemia -Orphanet:248308 Rare hemorrhagic disorder -Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect -Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect -Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly -Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia -Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly -Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect -Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect -Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly -Orphanet:101943 Rare hepatic and biliary tract tumor -Orphanet:57146 Rare hepatic disease Orphanet:619238 Rare hereditary autoinflammatory disease -Orphanet:399185 Rare hereditary disease with avascular necrosis -Orphanet:207015 Rare hereditary disease with peripheral neuropathy -Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy -Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy -Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy -Orphanet:217454 Rare hereditary thrombophilia -Orphanet:477811 Rare hypercholesterolemia -Orphanet:494457 Rare hyperkinetic movement disorder -Orphanet:181422 Rare hyperlipidemia -Orphanet:98621 Rare hyperopia and astigmatism -Orphanet:181408 Rare hyperparathyroidism -Orphanet:181399 Rare hyperthyroidism -Orphanet:181419 Rare hypoaldosteronism -Orphanet:181431 Rare hypolipidemia -Orphanet:181405 Rare hypoparathyroidism -Orphanet:181384 Rare hypothalamic or pituitary disease -Orphanet:181396 Rare hypothyroidism -Orphanet:482092 Rare idiopathic macular telangiectasia -Orphanet:98004 Rare immune disease -Orphanet:68367 Rare inborn errors of metabolism -Orphanet:68416 Rare infectious disease -Orphanet:98047 Rare infertility Orphanet:519290 Rare inflammatory/autoimmune corneal disorder -Orphanet:181368 Rare insulin-resistance syndrome -Orphanet:87277 Rare intellectual disability -Orphanet:117569 Rare intestinal disease -Orphanet:306640 Rare intoxication due to medical products -Orphanet:98619 Rare isolated myopia -Orphanet:98639 Rare lens disease -Orphanet:254367 Rare lichen planus -Orphanet:2415 Rare lymphatic malformation -Orphanet:211255 Rare lymphatic system anomaly Orphanet:519313 Rare macular disorder -Orphanet:98048 Rare male infertility -Orphanet:399584 Rare male infertility due to adrenal disorder -Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin -Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder -Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin -Orphanet:399685 Rare male infertility due to testicular endocrine disorder -Orphanet:180257 Rare malignant breast tumor -Orphanet:68329 Rare maxillo-facial surgical disease -Orphanet:101940 Rare metabolic liver disease -Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness -Orphanet:102003 Rare movement disorder -Orphanet:254373 Rare mucosal lichen planus -Orphanet:163591 Rare mycosis -Orphanet:306747 Rare myoclonus -Orphanet:300515 Rare nail tumor -Orphanet:250908 Rare neoplastic disease -Orphanet:98062 Rare nervous system tumor -Orphanet:182070 Rare neurodegenerative disease -Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease -Orphanet:98006 Rare neurologic disease -Orphanet:98033 Rare neurologic disease with psychiatric involvement -Orphanet:294057 Rare nevus -Orphanet:231641 Rare non surgically correctable form of primary aldosteronism -Orphanet:180202 Rare non-malformative breast disease -Orphanet:180199 Rare non-malformative gynecologic or obstetric disease -Orphanet:180303 Rare non-malformative uterine adnexal disease -Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease -Orphanet:101685 Rare non-syndromic intellectual disability -Orphanet:519355 Rare ocular motility/alignment disorder -Orphanet:98685 Rare oculomotor nerve disorder -Orphanet:164001 Rare odontal or periodontal disorder -Orphanet:314425 Rare odontogenic tumor -Orphanet:98026 Rare odontologic disease -Orphanet:97966 Rare ophthalmic disorder -Orphanet:519343 Rare ophthalmic disorder with cortical involvement -Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement -Orphanet:98036 Rare otorhinolaryngologic disease -Orphanet:98061 Rare otorhinolaryngologic tumor -Orphanet:96333 Rare otorhinolaryngological malformation -Orphanet:98560 Rare palpebral disorder -Orphanet:101937 Rare pancreatic disease -Orphanet:163588 Rare parasitic disease -Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly -Orphanet:100090 Rare parathyroid tumor -Orphanet:101939 Rare parenchymal liver disease -Orphanet:68402 Rare parkinsonian disorder -Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease -Orphanet:306679 Rare parkinsonian syndrome due to intoxication -Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease -Orphanet:306768 Rare paroxysmal movement disorder -Orphanet:98496 Rare peripheral neuropathy -Orphanet:178040 Rare peripheral precocious puberty Orphanet:650187 Rare peripheral precocious puberty in female -Orphanet:168778 Rare pervasive developmental disorder -Orphanet:79390 Rare photodermatosis -Orphanet:95708 Rare precocious puberty -Orphanet:435561 Rare precocious puberty in female -Orphanet:181415 Rare primary hyperaldosteronism -Orphanet:101944 Rare pulmonary disease -Orphanet:71198 Rare pulmonary hypertension -Orphanet:98618 Rare refraction anomaly -Orphanet:93626 Rare renal disease -Orphanet:93603 Rare renal tubular disease -Orphanet:93619 Rare renal tumor -Orphanet:97955 Rare respiratory disease -Orphanet:98060 Rare respiratory tumor Orphanet:519317 Rare retinal vasculopathy -Orphanet:182231 Rare rheumatologic disease Orphanet:648559 Rare scleritis -Orphanet:89826 Rare skin disease -Orphanet:79386 Rare skin tumor or hamartoma -Orphanet:68354 Rare sleep disorder -Orphanet:71209 Rare soft tissue tumor -Orphanet:97965 Rare surgical cardiac disease -Orphanet:97962 Rare surgical thoracic disease -Orphanet:231637 Rare surgically correctable form of primary aldosteronism -Orphanet:156532 Rare syndrome with cardiac malformations -Orphanet:181437 Rare syndromic dyslipidemia -Orphanet:102369 Rare syndromic intellectual disability -Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -Orphanet:98023 Rare systemic or rheumatologic disease -Orphanet:280342 Rare systemic or rheumatological disease of childhood -Orphanet:52662 Rare teratologic disease -Orphanet:182054 Rare thrombotic disease of hematologic origin -Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect -Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect -Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly -Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly -Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect -Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly -Orphanet:100088 Rare thyroid carcinoma -Orphanet:101955 Rare thyroid disease -Orphanet:100087 Rare thyroid tumor -Orphanet:306712 Rare tremor disorder Orphanet:519353 Rare trochlear nerve disorder -Orphanet:98057 Rare tumor -Orphanet:251558 Rare tumor of neuroepithelial tissue -Orphanet:180824 Rare tumor of pancreas -Orphanet:276142 Rare tumor of salivary glands -Orphanet:98058 Rare urinary tract tumor -Orphanet:101433 Rare urogenital disease -Orphanet:182114 Rare urogenital tumor -Orphanet:79384 Rare urticaria -Orphanet:180220 Rare uterine adnexal tumor -Orphanet:213564 Rare uterine cancer -Orphanet:68362 Rare vascular disease -Orphanet:101938 Rare vascular liver disease -Orphanet:458844 Rare vascular malformation of major vessels -Orphanet:211237 Rare vascular tumor -Orphanet:211252 Rare venous malformation -Orphanet:163585 Rare viral disease -Orphanet:289635 Rare virus associated tumor -Orphanet:180312 Rare vulvovaginal tumor -Orphanet:1929 Rasmussen subacute encephalitis -Orphanet:31205 Rat-bite fever -Orphanet:99852 Ravine syndrome -Orphanet:29207 Reactive arthritis -Orphanet:166433 Reading seizures -Orphanet:461 Recessive X-linked ichthyosis -Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa -Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome -Orphanet:94125 Recessive mitochondrial ataxia syndrome -Orphanet:96167 Recombinant 8 syndrome -Orphanet:171220 Rectal duplication -Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency -Orphanet:499103 Recurrent idiopathic neuroretinitis -Orphanet:169142 Recurrent infection due to specific granule deficiency -Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency -Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome -Orphanet:60032 Recurrent respiratory papillomatosis -Orphanet:97239 Reducing body myopathy -Orphanet:310 Reflex epilepsy -Orphanet:98826 Refractory anemia -Orphanet:86839 Refractory anemia with excess blasts -Orphanet:168960 Refractory anemia with excess blasts in transformation -Orphanet:100019 Refractory anemia with excess blasts type 1 -Orphanet:100020 Refractory anemia with excess blasts type 2 -Orphanet:398063 Refractory celiac disease -Orphanet:773 Refsum disease -Orphanet:83450 Regional odontodysplasia -Orphanet:231416 Regional variant of Guillain-Barré syndrome -Orphanet:448267 Regressive spondylometaphyseal dysplasia -Orphanet:98961 Reis-Bücklers corneal dystrophy -Orphanet:99991 Relapsing epidemic typhus -Orphanet:91547 Relapsing fever -Orphanet:728 Relapsing polychondritis -Orphanet:411709 Renal agenesis -Orphanet:1848 Renal agenesis, bilateral -Orphanet:93100 Renal agenesis, unilateral -Orphanet:2838 Renal caliceal diverticuli-deafness syndrome -Orphanet:156162 Renal ciliopathy -Orphanet:1475 Renal coloboma syndrome -Orphanet:98646 Renal disease with cataract -Orphanet:93108 Renal dysplasia -Orphanet:93173 Renal dysplasia, bilateral -Orphanet:93172 Renal dysplasia, unilateral -Orphanet:93101 Renal hypoplasia -Orphanet:97362 Renal hypoplasia, bilateral -Orphanet:97361 Renal hypoplasia, unilateral -Orphanet:319319 Renal medullary carcinoma -Orphanet:71273 Renal nutcracker syndrome -Orphanet:93545 Renal or urinary tract malformation -Orphanet:171871 Renal pseudohypoaldosteronism type 1 -Orphanet:3033 Renal tubular dysgenesis -Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion -Orphanet:97369 Renal tubular dysgenesis of genetic origin -Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome -Orphanet:294415 Renal-hepatic-pancreatic dysplasia -Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema -Orphanet:3242 Renpenning syndrome -Orphanet:566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha -Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta -Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome -Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome -Orphanet:182111 Respiratory malformation -Orphanet:98045 Respiratory or mediastinal malformation -Orphanet:97957 Respiratory or thoracic malformation -Orphanet:217632 Restrictive cardiomyopathy -Orphanet:1662 Restrictive dermopathy Orphanet:645334 Retained medullary cord -Orphanet:33355 Reticular dysgenesis -Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium -Orphanet:100000 Reticular perineurioma -Orphanet:178307 Reticulate acropigmentation of Kitamura -Orphanet:458763 Retiform hemangioendothelioma -Orphanet:75326 Retinal arterial tortuosity -Orphanet:71213 Retinal capillary malformation -Orphanet:156165 Retinal ciliopathy -Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene -Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene -Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene -Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene -Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene -Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene -Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome -Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies -Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome -Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome -Orphanet:319640 Retinal macular dystrophy type 2 -Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -Orphanet:791 Retinitis pigmentosa -Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome -Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome -Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome -Orphanet:52427 Retinitis punctata albescens -Orphanet:790 Retinoblastoma -Orphanet:90050 Retinopathy of prematurity -Orphanet:778 Rett syndrome -Orphanet:284388 Reversible cerebral vasoconstriction syndrome -Orphanet:3088 Revesz syndrome -Orphanet:3096 Reye syndrome -Orphanet:779 Reynolds syndrome -Orphanet:71275 Rh deficiency syndrome -Orphanet:69077 Rhabdoid tumor -Orphanet:231108 Rhabdoid tumor predisposition syndrome -Orphanet:780 Rhabdomyosarcoma -Orphanet:213802 Rhabdomyosarcoma of the cervix uteri -Orphanet:213615 Rhabdomyosarcoma of the corpus uteri -Orphanet:3099 Rheumatic fever -Orphanet:85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis -Orphanet:85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis -Orphanet:177 Rhizomelic chondrodysplasia punctata -Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 -Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 -Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 -Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 -Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type -Orphanet:3098 Rhizomelic syndrome, Urbach type -Orphanet:59315 Rhombencephalosynapsis -Orphanet:97229 Riboflavin transporter deficiency -Orphanet:440706 Ribose-5-P isomerase deficiency -Orphanet:1399 Richards-Rundle syndrome -Orphanet:3102 Richieri Costa-Pereira syndrome -Orphanet:3101 Richieri Costa-da Silva syndrome -Orphanet:570470 Ricin poisoning -Orphanet:102021 Rickettsial disease -Orphanet:83312 Rickettsialpox -Orphanet:91483 Rieger anomaly -Orphanet:319251 Rift valley fever -Orphanet:99081 Right aortic arch -Orphanet:99119 Right inferior vena cava connecting to left-sided atrium -Orphanet:97548 Right sided atrial isomerism -Orphanet:99110 Right superior vena cava connecting to left-sided atrium -Orphanet:97244 Rigid spine syndrome -Orphanet:363203 Ring chromosome -Orphanet:1437 Ring chromosome 1 syndrome -Orphanet:1438 Ring chromosome 10 syndrome -Orphanet:96175 Ring chromosome 11 syndrome -Orphanet:1439 Ring chromosome 12 syndrome -Orphanet:96176 Ring chromosome 13 syndrome -Orphanet:1440 Ring chromosome 14 syndrome -Orphanet:96177 Ring chromosome 15 syndrome -Orphanet:96178 Ring chromosome 16 syndrome -Orphanet:1441 Ring chromosome 17 syndrome -Orphanet:1442 Ring chromosome 18 syndrome -Orphanet:1443 Ring chromosome 19 syndrome -Orphanet:96171 Ring chromosome 2 syndrome -Orphanet:1444 Ring chromosome 20 syndrome -Orphanet:1445 Ring chromosome 21 syndrome -Orphanet:1446 Ring chromosome 22 syndrome -Orphanet:96172 Ring chromosome 3 syndrome -Orphanet:1447 Ring chromosome 4 syndrome -Orphanet:251043 Ring chromosome 5 syndrome -Orphanet:1448 Ring chromosome 6 syndrome -Orphanet:1449 Ring chromosome 7 syndrome -Orphanet:1450 Ring chromosome 8 syndrome -Orphanet:96173 Ring chromosome 9 syndrome -Orphanet:261529 Ring chromosome Y syndrome -Orphanet:91481 Ring dermoid of cornea -Orphanet:169 Ringed hair disease -Orphanet:97238 Rippling muscle disease -Orphanet:206575 Rippling muscle disease with myasthenia gravis -Orphanet:3103 Roberts syndrome -Orphanet:3104 Robin sequence-oligodactyly syndrome -Orphanet:97360 Robinow syndrome -Orphanet:529 Roch-Leri mesosomatous lipomatosis -Orphanet:83311 Rocky Mountain spotted fever -Orphanet:353298 Roifman syndrome -Orphanet:1945 Rolandic epilepsy -Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome -Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome -Orphanet:101016 Romano-Ward syndrome -Orphanet:3110 Rombo syndrome -Orphanet:158014 Rosaï-Dorfman disease -Orphanet:251975 Rosette-forming glioneuronal tumor -Orphanet:2909 Rothmund-Thomson syndrome -Orphanet:221008 Rothmund-Thomson syndrome type 1 -Orphanet:221016 Rothmund-Thomson syndrome type 2 -Orphanet:3111 Rotor syndrome -Orphanet:3115 Roussy-Lévy syndrome -Orphanet:83616 Rubella panencephalitis -Orphanet:783 Rubinstein-Taybi syndrome -Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion -Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations -Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency -Orphanet:3121 Ruvalcaba syndrome -Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency -Orphanet:619367 SAMD9L-associated autoinflammatory syndrome -Orphanet:793 SAPHO syndrome -Orphanet:576278 SATB2-associated syndrome -Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement -Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant -Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia -Orphanet:370052 SCALP syndrome -Orphanet:3134 SCARF syndrome -Orphanet:139466 SERKAL syndrome -Orphanet:597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome -Orphanet:3163 SHORT syndrome -Orphanet:314795 SHOX-related short stature -Orphanet:398079 SIM1-related Prader-Willi-like syndrome -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation -Orphanet:488437 SIX2-related frontonasal dysplasia -Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome -Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome -Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome -Orphanet:238459 SLC35A1-CDG -Orphanet:356961 SLC35A2-CDG -Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome -Orphanet:468699 SLC39A8-CDG +Orphanet:658584 Rowell syndrome Orphanet:647834 SLC40A1-related hemochromatosis -Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome -Orphanet:466962 SMARCA4-deficient sarcoma of thorax -Orphanet:1519 SPECC1L-related hypertelorism syndrome -Orphanet:93357 SPONASTRIME dysplasia -Orphanet:324737 SRD5A3-CDG -Orphanet:370927 SSR4-CDG -Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome -Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease -Orphanet:425120 STING-associated vasculopathy with onset in infancy -Orphanet:370921 STT3A-CDG -Orphanet:370924 STT3B-CDG -Orphanet:599373 STXBP1-related encephalopathy -Orphanet:57145 SUNCT syndrome -Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 -Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy -Orphanet:3124 Saccharopinuria Orphanet:645354 Saccular limited dorsal myeloschisis Orphanet:645319 Saccular spinal dysraphism with a stalk to the dome -Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome -Orphanet:494421 Sacrococcygeal teratoma -Orphanet:794 Saethre-Chotzen syndrome -Orphanet:300493 Sagliker syndrome -Orphanet:140969 Saldino-Mainzer syndrome -Orphanet:213557 Salivary gland type cancer of the breast -Orphanet:309334 Salla disease -Orphanet:796 Sandhoff disease -Orphanet:309169 Sandhoff disease, adult form -Orphanet:309155 Sandhoff disease, infantile form -Orphanet:309162 Sandhoff disease, juvenile form -Orphanet:71272 Sandifer syndrome -Orphanet:79269 Sanfilippo syndrome type A -Orphanet:79270 Sanfilippo syndrome type B -Orphanet:79271 Sanfilippo syndrome type C -Orphanet:79272 Sanfilippo syndrome type D -Orphanet:2323 Sanjad-Sakati syndrome -Orphanet:54368 Sarcocystosis -Orphanet:797 Sarcoidosis -Orphanet:213797 Sarcoma of cervix uteri -Orphanet:213620 Sarcoma of the corpus uteri -Orphanet:3129 Sarcosinemia -Orphanet:3130 Satoyoshi syndrome -Orphanet:3132 Say-Barber-Miller syndrome -Orphanet:1003 Scalp defects-postaxial polydactyly syndrome -Orphanet:2036 Scalp-ear-nipple syndrome -Orphanet:431255 Scapuloperoneal spinal muscular atrophy -Orphanet:449280 Scedosporiosis -Orphanet:93474 Scheie syndrome -Orphanet:2353 Schilbach-Rott syndrome -Orphanet:59298 Schilder disease -Orphanet:1830 Schimke immuno-osseous dysplasia -Orphanet:798 Schinzel-Giedion syndrome -Orphanet:63862 Schisis association -Orphanet:1247 Schistosomiasis -Orphanet:799 Schizencephaly -Orphanet:3144 Schneckenbecken dysplasia -Orphanet:37748 Schnitzler syndrome -Orphanet:98967 Schnyder corneal dystrophy -Orphanet:800 Schwartz-Jampel syndrome -Orphanet:50944 Schöpf-Schulz-Passarge syndrome -Orphanet:185 Scimitar syndrome -Orphanet:352763 Scleredema -Orphanet:801 Scleroderma -Orphanet:167635 Scleromyxedema -Orphanet:90400 Scleromyxedema without monoclonal gammopathy -Orphanet:100001 Sclerosing perineurioma -Orphanet:3152 Sclerosteosis -Orphanet:466677 Scorpion envenomation -Orphanet:806 Scott syndrome -Orphanet:83317 Scrub typhus -Orphanet:158029 Sea-blue histiocytosis -Orphanet:79372 Sebaceous gland anomaly -Orphanet:841 Sebocystomatosis -Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements -Orphanet:808 Seckel syndrome -Orphanet:141022 Second branchial cleft anomaly -Orphanet:399169 Secondary avascular necrosis Orphanet:650082 Secondary central precocious puberty in female Orphanet:650092 Secondary central precocious puberty in male -Orphanet:519331 Secondary early-onset glaucoma -Orphanet:522580 Secondary early-onset glaucoma of genetic origin -Orphanet:98571 Secondary ectropion -Orphanet:529864 Secondary erythromelalgia -Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis -Orphanet:314962 Secondary hypereosinophilic syndrome -Orphanet:140286 Secondary hypoparathyroidism due to impaired parathormon secretion -Orphanet:90363 Secondary intestinal lymphangiectasia -Orphanet:398091 Secondary neonatal autoimmune disease -Orphanet:399180 Secondary non-traumatic avascular necrosis -Orphanet:439746 Secondary polyarteritis nodosa -Orphanet:98428 Secondary polycythemia -Orphanet:420259 Secondary pulmonary alveolar proteinosis -Orphanet:99930 Secondary pulmonary hemosiderosis -Orphanet:447774 Secondary sclerosing cholangitis -Orphanet:95427 Secondary short bowel syndrome -Orphanet:99857 Secondary syringomyelia -Orphanet:445197 Secondary vasculitis -Orphanet:645350 Segmental arterial mediolysis -Orphanet:67039 Segmental odontomaxillary dysplasia -Orphanet:137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome -Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia -Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome -Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome -Orphanet:331235 Selective IgM deficiency -Orphanet:617301 Selective intrauterine growth restriction -Orphanet:90397 Self-healing papular mucinosis -Orphanet:281122 Self-improving collodion baby -Orphanet:79411 Self-improving dystrophic epidermolysis bullosa -Orphanet:100069 Semantic dementia -Orphanet:420402 Semicircular canal dehiscence syndrome -Orphanet:220386 Semilobar holoprosencephaly -Orphanet:84081 Senior-Boichis syndrome -Orphanet:3156 Senior-Loken syndrome -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy -Orphanet:66633 Sensorineural hearing loss-early graying-essential tremor syndrome -Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome -Orphanet:180154 Septate vagina -Orphanet:3157 Septo-optic dysplasia spectrum -Orphanet:280195 Septopreoptic holoprosencephaly -Orphanet:583595 Serine biosynthesis pathway deficiency, infantile/juvenile form -Orphanet:563676 Seromucinous cystadenoma of childhood -Orphanet:563589 Seronegative autoimmune hepatitis -Orphanet:43116 Serotonin syndrome -Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas -Orphanet:213726 Serous carcinoma of the corpus uteri -Orphanet:424073 Serous cystadenocarcinoma of pancreas -Orphanet:563666 Serous cystadenoma of childhood -Orphanet:35686 Serpiginous choroiditis -Orphanet:250805 Serpinopathy -Orphanet:250811 Serpinopathy with loss of serpin function -Orphanet:250808 Serpinopathy with toxic serpin polymerization -Orphanet:157798 Serrated polyposis syndrome -Orphanet:314911 Severe Canavan disease -Orphanet:3078 Severe X-linked intellectual disability, Gustavson type -Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy -Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome -Orphanet:140896 Severe acute respiratory syndrome -Orphanet:438207 Severe autosomal recessive macrothrombocytopenia -Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency -Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency -Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency -Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency -Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency -Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency -Orphanet:504523 Severe combined immunodeficiency due to LAT deficiency -Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency -Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency -Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency -Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts -Orphanet:171430 Severe congenital nemaline myopathy -Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome -Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients -Orphanet:364055 Severe early-childhood-onset retinal dystrophy -Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency -Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency -Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency -Orphanet:79404 Severe generalized junctional epidermolysis bullosa -Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome -Orphanet:169802 Severe hemophilia A -Orphanet:169793 Severe hemophilia B -Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency -Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency -Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome -Orphanet:94075 Severe immune-mediated enteropathy -Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia -Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome -Orphanet:94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome -Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome -Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome -Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome -Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome -Orphanet:324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome -Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome -Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome -Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome -Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion -Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency -Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly -Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy -Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract -Orphanet:2715 Severe oculo-renal-cerebellar syndrome -Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity -Orphanet:468726 Severe primary trimethylaminuria -Orphanet:325546 Sex chromosome difference of sex development -Orphanet:363489 Sex cord-stromal tumor of testis -Orphanet:98155 Sex-chromosome anomaly -Orphanet:98156 Sex-chromosome number anomaly -Orphanet:98157 Sex-chromosome structural anomaly -Orphanet:91355 Sheehan syndrome -Orphanet:1147 Sheldon-Hall syndrome -Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome -Orphanet:810 Shigellosis -Orphanet:99063 Shone complex -Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency -Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome -Orphanet:1505 Short rib-polydactyly syndrome -Orphanet:498497 Short rib-polydactyly syndrome type 5 -Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type -Orphanet:93269 Short rib-polydactyly syndrome, Majewski type -Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type -Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type -Orphanet:314811 Short stature due to GHSR deficiency -Orphanet:629 Short stature due to growth hormone qualitative anomaly -Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia -Orphanet:314802 Short stature due to partial GHR deficiency -Orphanet:140941 Short stature due to primary acid-labile subunit deficiency -Orphanet:2867 Short stature, Brussels type -Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome -Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome -Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome -Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome -Orphanet:2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome -Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency -Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome -Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome -Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome -Orphanet:589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome -Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome -Orphanet:2865 Short stature-webbed neck-heart disease syndrome -Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome -Orphanet:2832 Short tarsus-absence of lower eyelashes syndrome -Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome -Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency -Orphanet:2462 Shprintzen-Goldberg syndrome -Orphanet:811 Shwachman-Diamond syndrome -Orphanet:309294 Sialidosis -Orphanet:812 Sialidosis type 1 -Orphanet:87876 Sialidosis type 2 -Orphanet:3166 Sialuria -Orphanet:232 Sickle cell anemia -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome -Orphanet:251365 Sickle cell-hemoglobin C disease syndrome -Orphanet:251370 Sickle cell-hemoglobin D disease syndrome -Orphanet:251375 Sickle cell-hemoglobin E disease syndrome -Orphanet:1047 Sideroblastic anemia -Orphanet:3167 Siegler-Brewer-Carey syndrome -Orphanet:314786 Silent pituitary adenoma -Orphanet:71276 Silent sinus syndrome -Orphanet:3168 Sillence syndrome -Orphanet:813 Silver-Russell syndrome -Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication -Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication -Orphanet:397590 Silver-Russell syndrome due to a point mutation -Orphanet:231140 Silver-Russell syndrome due to an imprinting defect of 11p15 -Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 -Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 -Orphanet:91139 Simple cryoglobulinemia -Orphanet:211243 Simple vascular malformation -Orphanet:373 Simpson-Golabi-Behmel syndrome -Orphanet:97337 Sinding-Larsen-Johansson disease -Orphanet:439755 Single-organ polyarteritis nodosa -Orphanet:85191 Singleton-Merten dysplasia -Orphanet:324321 Sinoatrial node dysfunction and deafness -Orphanet:3169 Sirenomelia -Orphanet:2882 Sitosterolemia -Orphanet:157769 Situs ambiguus -Orphanet:101063 Situs inversus totalis -Orphanet:816 Sjögren-Larsson syndrome -Orphanet:319 Skeletal Ewing sarcoma -Orphanet:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome -Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome -Orphanet:98472 Skeletal muscle disease -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome -Orphanet:79379 Skin vascular disease -Orphanet:93440 Slender bone dysplasia -Orphanet:1201 Small bowel atresia -Orphanet:284400 Small cell carcinoma of the bladder -Orphanet:370396 Small cell carcinoma of the ovary -Orphanet:70573 Small cell lung cancer -Orphanet:818 Smith-Lemli-Opitz syndrome -Orphanet:819 Smith-Magenis syndrome -Orphanet:178355 Smith-McCort dysplasia -Orphanet:158775 Smoldering systemic mastocytosis -Orphanet:449285 Snakebite envenomation -Orphanet:820 Sneddon syndrome -Orphanet:91496 Snowflake vitreoretinal degeneration -Orphanet:306577 Sodium channelopathy-related small fiber neuropathy -Orphanet:3394 Soft tissue sarcoma -Orphanet:97230 Solar urticaria -Orphanet:424065 Solid pseudopapillary carcinoma of pancreas -Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy -Orphanet:83468 Solitary bone cyst -Orphanet:2126 Solitary fibrous tumor -Orphanet:100035 Solitary necrotic nodule of the liver -Orphanet:209964 Solitary rectal ulcer syndrome -Orphanet:314769 Somatomammotropinoma -Orphanet:97283 Somatostatinoma -Orphanet:96256 Somatotropic adenoma -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy -Orphanet:821 Sotos syndrome -Orphanet:98868 Southeast Asian ovalocytosis -Orphanet:279882 Spasmus nutans -Orphanet:316226 Spastic ataxia -Orphanet:1182 Spastic ataxia with congenital miosis -Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome -Orphanet:557056 Spastic ataxia-dysarthria due to glutaminase deficiency -Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome -Orphanet:2815 Spastic paraparesis-deafness syndrome -Orphanet:99015 Spastic paraplegia type 2 -Orphanet:99013 Spastic paraplegia type 7 -Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome -Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome -Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome -Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome -Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome -Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome -Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome -Orphanet:2826 Spastic paraplegia-precocious puberty syndrome -Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome -Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome -Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome -Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells -Orphanet:211053 Specific language disorder -Orphanet:211047 Specific learning disability -Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia -Orphanet:99865 Spermatocytic seminoma -Orphanet:268129 Spheroid body myopathy -Orphanet:371442 Sphingolipidosis with epilepsy -Orphanet:314432 Spigelian hernia-cryptorchidism syndrome -Orphanet:823 Spina bifida and other spinal dysraphisms -Orphanet:3176 Spina bifida-hypospadias syndrome -Orphanet:53721 Spinal arteriovenous metameric syndrome -Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome -Orphanet:90058 Spinal cord injury -Orphanet:645276 Spinal cord lipoma +Orphanet:656126 Segmental spinal dysgenesis Orphanet:645188 Spinal dermal sinus -Orphanet:268744 Spinal dysraphism with a posterior meningocele -Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly -Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 -Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 -Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome -Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome -Orphanet:210584 Spindle cell hemangioma -Orphanet:98755 Spinocerebellar ataxia type 1 -Orphanet:98761 Spinocerebellar ataxia type 10 -Orphanet:98767 Spinocerebellar ataxia type 11 -Orphanet:98762 Spinocerebellar ataxia type 12 -Orphanet:98768 Spinocerebellar ataxia type 13 -Orphanet:98763 Spinocerebellar ataxia type 14 -Orphanet:98769 Spinocerebellar ataxia type 15/16 -Orphanet:98759 Spinocerebellar ataxia type 17 -Orphanet:98771 Spinocerebellar ataxia type 18 -Orphanet:98772 Spinocerebellar ataxia type 19/22 -Orphanet:98756 Spinocerebellar ataxia type 2 -Orphanet:101110 Spinocerebellar ataxia type 20 -Orphanet:98773 Spinocerebellar ataxia type 21 -Orphanet:101108 Spinocerebellar ataxia type 23 -Orphanet:101111 Spinocerebellar ataxia type 25 -Orphanet:101112 Spinocerebellar ataxia type 26 -Orphanet:98764 Spinocerebellar ataxia type 27 -Orphanet:101109 Spinocerebellar ataxia type 28 -Orphanet:208513 Spinocerebellar ataxia type 29 -Orphanet:98757 Spinocerebellar ataxia type 3 -Orphanet:211017 Spinocerebellar ataxia type 30 -Orphanet:217012 Spinocerebellar ataxia type 31 -Orphanet:276183 Spinocerebellar ataxia type 32 -Orphanet:1955 Spinocerebellar ataxia type 34 -Orphanet:276193 Spinocerebellar ataxia type 35 -Orphanet:276198 Spinocerebellar ataxia type 36 -Orphanet:363710 Spinocerebellar ataxia type 37 -Orphanet:423296 Spinocerebellar ataxia type 38 -Orphanet:98765 Spinocerebellar ataxia type 4 -Orphanet:423275 Spinocerebellar ataxia type 40 -Orphanet:458798 Spinocerebellar ataxia type 41 -Orphanet:458803 Spinocerebellar ataxia type 42 -Orphanet:497764 Spinocerebellar ataxia type 43 -Orphanet:631095 Spinocerebellar ataxia type 44 -Orphanet:589527 Spinocerebellar ataxia type 45 -Orphanet:589522 Spinocerebellar ataxia type 46 -Orphanet:631103 Spinocerebellar ataxia type 48 -Orphanet:631106 Spinocerebellar ataxia type 49 -Orphanet:98766 Spinocerebellar ataxia type 5 -Orphanet:98758 Spinocerebellar ataxia type 6 -Orphanet:94147 Spinocerebellar ataxia type 7 -Orphanet:98760 Spinocerebellar ataxia type 8 -Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 -Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 -Orphanet:254881 Spinocerebellar ataxia with epilepsy -Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome -Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome -Orphanet:99903 Spirillary rat-bite fever -Orphanet:300869 Splenic diffuse red pulp small B-cell lymphoma -Orphanet:86854 Splenic marginal zone lymphoma -Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome -Orphanet:573278 Split cord malformation -Orphanet:1671 Split cord malformation type I -Orphanet:573253 Split cord malformation type II -Orphanet:71271 Split hand-split foot-deafness syndrome -Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome -Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia -Orphanet:85194 Spondylo-ocular syndrome -Orphanet:3180 Spondylocamptodactyly syndrome -Orphanet:3275 Spondylocarpotarsal synostosis -Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome -Orphanet:93434 Spondylodysplastic dysplasia -Orphanet:1855 Spondyloenchondrodysplasia -Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type -Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type -Orphanet:93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type -Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type -Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type -Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type -Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type -Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type -Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type -Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type -Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type -Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type -Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome -Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome -Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -Orphanet:94068 Spondyloepiphyseal dysplasia congenita -Orphanet:93284 Spondyloepiphyseal dysplasia tarda -Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type -Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening -Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type -Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type -Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type -Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type -Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome -Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome -Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome -Orphanet:254 Spondylometaphyseal dysplasia -Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type -Orphanet:168555 Spondylometaphyseal dysplasia, A4 type -Orphanet:168544 Spondylometaphyseal dysplasia, Golden type -Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type -Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type -Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type -Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome -Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome -Orphanet:645793 Spontaneous intestinal perforation -Orphanet:443180 Spontaneous intracranial hypotension -Orphanet:29822 Spontaneous periodic hypothermia -Orphanet:204 Sporadic Creutzfeldt-Jakob disease -Orphanet:247234 Sporadic adult-onset ataxia of unknown etiology -Orphanet:586130 Sporadic fatal insomnia -Orphanet:1665 Sporadic fetal brain disruption sequence -Orphanet:576356 Sporadic human prion disease -Orphanet:306776 Sporadic hyperekplexia -Orphanet:225147 Sporadic infantile bilateral striatal necrosis -Orphanet:276621 Sporadic pheochromocytoma/secreting paraganglioma -Orphanet:443057 Sporadic porphyria cutanea tarda -Orphanet:826 Sporotrichosis -Orphanet:102022 Spotted fever rickettsiosis -Orphanet:3181 Sprengel deformity -Orphanet:424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract -Orphanet:424975 Squamous cell carcinoma of liver and intrahepatic biliary tract -Orphanet:502369 Squamous cell carcinoma of oral cavity and lip -Orphanet:424039 Squamous cell carcinoma of pancreas -Orphanet:500481 Squamous cell carcinoma of salivary glands -Orphanet:424019 Squamous cell carcinoma of the anal canal -Orphanet:213767 Squamous cell carcinoma of the cervix uteri -Orphanet:423994 Squamous cell carcinoma of the colon -Orphanet:213716 Squamous cell carcinoma of the corpus uteri -Orphanet:99977 Squamous cell carcinoma of the esophagus -Orphanet:494547 Squamous cell carcinoma of the hypopharynx -Orphanet:494550 Squamous cell carcinoma of the larynx -Orphanet:502366 Squamous cell carcinoma of the lip -Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses -Orphanet:502363 Squamous cell carcinoma of the oral cavity -Orphanet:500478 Squamous cell carcinoma of the oropharynx -Orphanet:398058 Squamous cell carcinoma of the penis -Orphanet:424002 Squamous cell carcinoma of the rectum -Orphanet:423968 Squamous cell carcinoma of the small intestine -Orphanet:418959 Squamous cell carcinoma of the stomach -Orphanet:83484 St. Louis encephalitis -Orphanet:140917 Stapes ankylosis with broad thumbs and toes -Orphanet:36238 Staphylococcal necrotizing pneumonia -Orphanet:36236 Staphylococcal scalded skin syndrome -Orphanet:36235 Staphylococcal scarlet fever -Orphanet:300579 Staphylococcal toxemia -Orphanet:99919 Staphylococcal toxic-shock syndrome -Orphanet:827 Stargardt disease -Orphanet:166427 Startle epilepsy -Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome -Orphanet:438117 Steel syndrome -Orphanet:273 Steinert myotonic dystrophy -Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis -Orphanet:2017 Sternal cleft -Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome -Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis -Orphanet:79195 Sterol biosynthesis disorder -Orphanet:79226 Sterol metabolism disorder -Orphanet:225710 Sterol metabolism disorder with epilepsy -Orphanet:36426 Stevens-Johnson syndrome -Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome -Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum -Orphanet:828 Stickler syndrome -Orphanet:90653 Stickler syndrome type 1 -Orphanet:90654 Stickler syndrome type 2 -Orphanet:3198 Stiff person spectrum disorder -Orphanet:2833 Stiff skin syndrome -Orphanet:3199 Stimmler syndrome -Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome -Orphanet:99064 Straddling and/or overriding mitral valve -Orphanet:95461 Straddling or overriding tricuspid valve -Orphanet:99905 Streptobacillary rat-bite fever -Orphanet:99918 Streptococcal toxic-shock syndrome -Orphanet:544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome -Orphanet:50942 Striate palmoplantar keratoderma -Orphanet:98626 Stromal corneal dystrophy -Orphanet:506307 Stromme syndrome -Orphanet:76 Strongyloidiasis -Orphanet:3205 Sturge-Weber syndrome -Orphanet:3206 Stüve-Wiedemann syndrome -Orphanet:101029 Sub-cortical nodular heterotopia -Orphanet:163525 Subacute cutaneous lupus erythematosus -Orphanet:206594 Subacute inflammatory demyelinating polyneuropathy -Orphanet:2806 Subacute sclerosing leukoencephalitis -Orphanet:99113 Subaortic course of innominate vein -Orphanet:3191 Subaortic stenosis-short stature syndrome -Orphanet:48377 Subcorneal pustular dermatosis -Orphanet:99796 Subcortical band heterotopia -Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma -Orphanet:79382 Subcutaneous tissue disease -Orphanet:251618 Subependymal giant cell astrocytoma -Orphanet:101030 Subependymal nodular heterotopia -Orphanet:251639 Subependymoma -Orphanet:98959 Subepithelial mucinous corneal dystrophy -Orphanet:155878 Submucosal cleft palate -Orphanet:3190 Subpulmonary stenosis -Orphanet:22 Succinic semialdehyde dehydrogenase deficiency -Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency -Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome -Orphanet:90059 Sudden sensorineural hearing loss -Orphanet:498602 Sugarman brachydactyly -Orphanet:93423 Sulfation-related bone disorder -Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency -Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A -Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B -Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -Orphanet:3210 Summitt syndrome -Orphanet:98625 Superficial corneal dystrophy -Orphanet:455 Superficial epidermolytic ichthyosis -Orphanet:199257 Superficial fibromatosis -Orphanet:46485 Superficial pemphigus -Orphanet:247245 Superficial siderosis -Orphanet:88633 Superior limbic keratoconjunctivitis -Orphanet:622099 Superior mesenteric artery syndrome -Orphanet:180182 Supernumerary breasts -Orphanet:141096 Supernumerary nostril -Orphanet:98687 Supranuclear eye movement disorder -Orphanet:466695 Supratip dysplasia -Orphanet:3193 Supravalvular aortic stenosis -Orphanet:3192 Supravalvular pulmonary stenosis -Orphanet:838 Susac syndrome -Orphanet:331226 Susceptibility to infection due to TYK2 deficiency -Orphanet:447740 Susceptibility to localized juvenile periodontitis -Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation -Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency -Orphanet:3243 Sweet syndrome -Orphanet:306731 Sydenham chorea -Orphanet:1570 Symbrachydactyly of hands and feet -Orphanet:1314 Symmetrical thalamic calcifications -Orphanet:79098 Sympathetic ophthalmia -Orphanet:3246 Symphalangism with multiple anomalies of hands and feet -Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers -Orphanet:465508 Symptomatic form of HFE-related hemochromatosis -Orphanet:604680 Symptomatic form of X-linked centronuclear myopathy in female carriers -Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers -Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers -Orphanet:98915 Synaptic congenital myasthenic syndromes -Orphanet:93402 Syndactyly type 1 -Orphanet:93403 Syndactyly type 2 -Orphanet:93404 Syndactyly type 3 -Orphanet:93405 Syndactyly type 4 -Orphanet:93406 Syndactyly type 5 -Orphanet:295012 Syndactyly type 6 -Orphanet:2498 Syndactyly type 8 -Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome -Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication -Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome -Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome -Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone -Orphanet:156237 Syndrome or malformation associated with head and neck malformations -Orphanet:325109 Syndrome with 46,XX difference of sex development -Orphanet:98087 Syndrome with 46,XY difference of sex development -Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature -Orphanet:108991 Syndrome with a central nervous system malformation as a major feature -Orphanet:269523 Syndrome with a cerebellar malformation as a major feature -Orphanet:331217 Syndrome with combined immunodeficiency -Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature -Orphanet:325638 Syndrome with difference of sex development of gynecological interest -Orphanet:181402 Syndrome with hypoparathyroidism -Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -Orphanet:109009 Syndrome with limb malformations as a major feature -Orphanet:294955 Syndrome with limb reduction defects -Orphanet:269528 Syndrome with microcephaly as a major feature -Orphanet:275853 Syndrome with pulmonary hypertension as a major feature -Orphanet:93459 Syndrome with synostosis or other joint formation defect -Orphanet:434809 Syndrome with woolly hair -Orphanet:85274 Syndromic X-linked intellectual disability 7 -Orphanet:229720 Syndromic agammaglobulinemia -Orphanet:98557 Syndromic aniridia -Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum -Orphanet:498350 Syndromic biliary atresia -Orphanet:180193 Syndromic breast hypoplasia/aplasia -Orphanet:98641 Syndromic cataract Orphanet:519321 Syndromic chorioretinal dystrophy -Orphanet:563708 Syndromic congenital sodium diarrhea -Orphanet:477794 Syndromic constitutional thrombocytopenia -Orphanet:98628 Syndromic corneal dystrophy -Orphanet:139393 Syndromic craniosynostosis -Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation -Orphanet:180779 Syndromic diaphragmatic or thoracic malformation -Orphanet:84064 Syndromic diarrhea -Orphanet:98683 Syndromic disorder with strabismus -Orphanet:519292 Syndromic ectopia lentis -Orphanet:98574 Syndromic epicanthus -Orphanet:108961 Syndromic esophageal malformation -Orphanet:98566 Syndromic eyelid coloboma -Orphanet:108965 Syndromic gastroduodenal malformation Orphanet:522548 Syndromic genetic cataract -Orphanet:90642 Syndromic genetic deafness Orphanet:522520 Syndromic genetic disorder with strabismus Orphanet:522554 Syndromic genetic ectopia lentis Orphanet:522564 Syndromic genetic keratoconus -Orphanet:79367 Syndromic hair shaft abnormality -Orphanet:441434 Syndromic hereditary optic neuropathy -Orphanet:98622 Syndromic hyperopia -Orphanet:177107 Syndromic hypothyroidism -Orphanet:519325 Syndromic inherited retinal disorder -Orphanet:98623 Syndromic keratoconus -Orphanet:519274 Syndromic lacrimal system disorder -Orphanet:178364 Syndromic microphthalmia type 5 -Orphanet:519294 Syndromic microspherophakia -Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency -Orphanet:79370 Syndromic nail anomaly -Orphanet:240371 Syndromic obesity -Orphanet:284811 Syndromic oculocutaneous albinism -Orphanet:137905 Syndromic optic nerve hypoplasia -Orphanet:98606 Syndromic orbital border hypoplasia -Orphanet:98576 Syndromic outer canthal malposition -Orphanet:281090 Syndromic recessive X-linked ichthyosis -Orphanet:108995 Syndromic respiratory or mediastinal malformation -Orphanet:98661 Syndromic rod-cone dystrophy -Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect -Orphanet:98575 Syndromic telecanthus -Orphanet:165707 Syndromic urogenital tract malformation -Orphanet:180148 Syndromic uterovaginal malformation -Orphanet:108973 Syndromic visceral malformation -Orphanet:519327 Syndromic vitreoretinopathy -Orphanet:3263 Syngnathia-cleft palate syndrome -Orphanet:3273 Synovial sarcoma -Orphanet:295195 Synpolydactyly type 1 -Orphanet:295197 Synpolydactyly type 2 -Orphanet:295199 Synpolydactyly type 3 -Orphanet:840 Syringocystadenoma papilliferum -Orphanet:3280 Syringomyelia -Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood -Orphanet:182228 Systemic autoimmune disease -Orphanet:188 Systemic capillary leak syndrome -Orphanet:290836 Systemic disease with skin involvement -Orphanet:280926 Systemic diseases with anterior uveitis -Orphanet:280933 Systemic diseases with panuveitis -Orphanet:280930 Systemic diseases with posterior uveitis -Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy -Orphanet:536 Systemic lupus erythematosus -Orphanet:2467 Systemic mastocytosis -Orphanet:98849 Systemic mastocytosis with associated hematologic neoplasm -Orphanet:90069 Systemic monochloroacetate poisoning -Orphanet:439762 Systemic polyarteritis nodosa -Orphanet:158 Systemic primary carnitine deficiency -Orphanet:90291 Systemic sclerosis -Orphanet:85414 Systemic-onset juvenile idiopathic arthritis -Orphanet:3162 Sézary syndrome -Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta -Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency -Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency -Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency -Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency -Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis -Orphanet:83471 T-cell immunodeficiency with thymic aplasia -Orphanet:86872 T-cell large granular lymphocyte leukemia -Orphanet:86871 T-cell prolymphocytic leukemia -Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma -Orphanet:457077 TAFRO syndrome -Orphanet:2886 TARP syndrome -Orphanet:488632 TBCK-related intellectual disability syndrome -Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency -Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder -Orphanet:284227 TEMPI syndrome -Orphanet:225123 TFR2-related hemochromatosis -Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome -Orphanet:314667 TMEM165-CDG -Orphanet:466703 TMEM199-CDG -Orphanet:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy -Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome -Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 -Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy -Orphanet:592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome -Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 -Orphanet:597201 TRIM22-related inflammatory bowel disease -Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 -Orphanet:364820 TRPV4-related bone disorder -Orphanet:91347 TSH-secreting pituitary adenoma -Orphanet:3287 Takayasu arteritis -Orphanet:66529 Tako-Tsubo cardiomyopathy -Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome -Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome -Orphanet:50809 Talo-patello-scaphoid osteolysis -Orphanet:31150 Tangier disease -Orphanet:99170 Tarsal kink syndrome -Orphanet:1412 Tarsal-carpal coalition syndrome -Orphanet:404443 Tatton-Brown-Rahman syndrome -Orphanet:845 Tay-Sachs disease -Orphanet:309192 Tay-Sachs disease, B variant, adult form -Orphanet:309178 Tay-Sachs disease, B variant, infantile form -Orphanet:309185 Tay-Sachs disease, B variant, juvenile form -Orphanet:309239 Tay-Sachs disease, B1 variant -Orphanet:3291 Teebi-Shaltout syndrome -Orphanet:3292 Tel Hashomer camptodactyly syndrome -Orphanet:90389 Telangiectasia macularis eruptiva perstans -Orphanet:3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome -Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 -Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 -Orphanet:254516 Temple syndrome -Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 -Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation -Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion -Orphanet:420561 Temple-Baraitser syndrome -Orphanet:210581 Temporomandibular joint anomaly -Orphanet:363417 Temtamy preaxial brachydactyly syndrome -Orphanet:1777 Temtamy syndrome -Orphanet:66627 Tenosynovial giant cell tumor -Orphanet:138059 Teratogenic Pierre Robin syndrome -Orphanet:252018 Teratoma of the central nervous system Orphanet:645288 Terminal extramedullary conus spinal cord lipoma Orphanet:645337 Terminal myelocystocele -Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome -Orphanet:498461 Terminal transverse limb defect -Orphanet:519410 Terrien marginal degeneration -Orphanet:141258 Tessier number 4 facial cleft -Orphanet:141261 Tessier number 5 facial cleft -Orphanet:141265 Tessier number 6 facial cleft -Orphanet:141276 Tessier number 7 facial cleft -Orphanet:325124 Testicular agenesis -Orphanet:983 Testicular regression syndrome -Orphanet:842 Testicular seminomatous germ cell tumor -Orphanet:363483 Testicular teratoma -Orphanet:3299 Tetanus -Orphanet:294971 Tetra-amelia -Orphanet:3301 Tetraamelia-multiple malformations syndrome -Orphanet:199310 Tetragametic chimerism -Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria -Orphanet:3303 Tetralogy of Fallot -Orphanet:2564 Tetramelic monodactyly -Orphanet:3305 Tetraploidy -Orphanet:884 Tetrasomy 12p -Orphanet:3307 Tetrasomy 18p -Orphanet:96055 Tetrasomy 21 -Orphanet:3309 Tetrasomy 5p -Orphanet:3310 Tetrasomy 9p -Orphanet:9 Tetrasomy X -Orphanet:1780 Thakker-Donnai syndrome -Orphanet:3312 Thalidomide embryopathy -Orphanet:2655 Thanatophoric dysplasia -Orphanet:1860 Thanatophoric dysplasia type 1 -Orphanet:93274 Thanatophoric dysplasia type 2 -Orphanet:99917 Theca steroid-producing cell malignant tumor of ovary, not further specified -Orphanet:199348 Thiamine-responsive encephalopathy -Orphanet:268184 Thiamine-responsive maple syrup urine disease -Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome -Orphanet:2405 Thickened earlobes-conductive deafness syndrome -Orphanet:98960 Thiel-Behnke corneal dystrophy -Orphanet:3314 Thiemann disease, familial form -Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome -Orphanet:166424 Thinking seizures -Orphanet:141030 Third branchial cleft anomaly -Orphanet:3316 Thomas syndrome -Orphanet:614 Thomsen and Becker disease -Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome -Orphanet:182108 Thoracic malformation -Orphanet:97330 Thoracic outlet syndrome -Orphanet:1759 Thoraco-abdominal enteric duplication -Orphanet:3317 Thoracolaryngopelvic dysplasia -Orphanet:1803 Thoracomelic dysplasia -Orphanet:329319 Thrombocythemia with distal limb defects -Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia -Orphanet:3320 Thrombocytopenia-absent radius syndrome -Orphanet:436169 Thrombomodulin-related bleeding disorder -Orphanet:93573 Thrombotic microangiopathy -Orphanet:54057 Thrombotic thrombocytopenic purpura -Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome -Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome -Orphanet:519406 Thygeson superficial punctate keratitis -Orphanet:99868 Thymic carcinoma -Orphanet:3398 Thymic epithelial neoplasm -Orphanet:99869 Thymic neuroendocrine carcinoma -Orphanet:97289 Thymic neuroendocrine tumor -Orphanet:100100 Thymic tumor -Orphanet:3326 Thymic-renal-anal-lung dysplasia -Orphanet:99867 Thymoma -Orphanet:263310 Thymoma type A -Orphanet:263324 Thymoma type AB -Orphanet:263317 Thymoma type B -Orphanet:3327 Thyrocerebrorenal syndrome -Orphanet:95712 Thyroid ectopia -Orphanet:95719 Thyroid hemiagenesis -Orphanet:95720 Thyroid hypoplasia -Orphanet:97285 Thyroid lymphoma -Orphanet:79102 Thyrotoxic periodic paralysis -Orphanet:3329 Tibial aplasia-ectrodactyly syndrome -Orphanet:93322 Tibial hemimelia -Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome -Orphanet:609 Tibial muscular dystrophy -Orphanet:295028 Tibio-fibular synostosis -Orphanet:297 Tick-borne encephalitis -Orphanet:42665 Tietz syndrome -Orphanet:65283 Timothy syndrome -Orphanet:595098 Timothy syndrome type 1 -Orphanet:595105 Timothy syndrome type 2 -Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 -Orphanet:64686 Tolosa-Hunt syndrome -Orphanet:1920 Toluene embryopathy -Orphanet:3338 Toriello-Carey syndrome -Orphanet:3339 Toriello-Lacassie-Droste syndrome -Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval -Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome -Orphanet:98141 Total autosomal monosomy -Orphanet:98131 Total autosomal trisomy -Orphanet:98994 Total early-onset cataract -Orphanet:857 Townes-Brocks syndrome -Orphanet:293815 Toxic dermatosis -Orphanet:537 Toxic epidermal necrolysis -Orphanet:279894 Toxic maculopathy due to antimalarial drugs -Orphanet:227972 Toxic oil syndrome -Orphanet:251529 Toxic or drug-related embryofetopathy -Orphanet:230800 Toxin-mediated infectious botulism -Orphanet:3343 Toxocariasis -Orphanet:3346 Tracheal agenesis -Orphanet:156252 Tracheal anomaly -Orphanet:3348 Tracheobronchopathia osteochondroplastica -Orphanet:101028 Transaldolase deficiency -Orphanet:2967 Transcobalamin I deficiency -Orphanet:859 Transcobalamin deficiency -Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma -Orphanet:178045 Transient congenital hypothyroidism -Orphanet:238696 Transient congenital hypothyroidism due to maternal factor -Orphanet:238699 Transient congenital hypothyroidism due to neonatal factor -Orphanet:98871 Transient erythroblastopenia of childhood -Orphanet:2312 Transient familial neonatal hyperbilirubinemia -Orphanet:289877 Transient hyperammonemia of the newborn -Orphanet:169139 Transient hypogammaglobulinemia of infancy -Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis -Orphanet:420611 Transient myeloproliferative syndrome -Orphanet:99886 Transient neonatal diabetes mellitus -Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency -Orphanet:391504 Transient neonatal myasthenia gravis -Orphanet:93164 Transient pseudohypoaldosteronism -Orphanet:3402 Transient tyrosinemia of the newborn -Orphanet:213746 Transitional cell carcinoma of the corpus uteri Orphanet:645291 Transitional extramedullary conus spinal cord lipoma -Orphanet:488618 Transketolase deficiency -Orphanet:216675 Transposition of the great arteries -Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly -Orphanet:180160 Transverse vaginal septum -Orphanet:399175 Traumatic avascular necrosis -Orphanet:861 Treacher-Collins syndrome -Orphanet:103909 Trehalase deficiency -Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome -Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome -Orphanet:64694 Trench fever -Orphanet:1463 Triatrial heart -Orphanet:254749 Tricarboxylic acid cycle disorder -Orphanet:863 Trichinellosis -Orphanet:3352 Tricho-dento-osseous syndrome -Orphanet:1264 Tricho-retino-dento-digital syndrome -Orphanet:3351 Trichodental syndrome -Orphanet:3353 Trichodermodysplasia-dental alterations syndrome -Orphanet:79129 Trichodysplasia-amelogenesis imperfecta syndrome -Orphanet:3361 Trichodysplasia-xeroderma syndrome -Orphanet:864 Trichofolliculoma -Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome -Orphanet:3355 Trichoodontoonychial dysplasia -Orphanet:324764 Trichorhinophalangeal syndrome -Orphanet:77258 Trichorhinophalangeal syndrome type 1 -Orphanet:502 Trichorhinophalangeal syndrome type 2 -Orphanet:33364 Trichothiodystrophy -Orphanet:1209 Tricuspid atresia -Orphanet:95457 Tricuspid valve agenesis -Orphanet:157843 Trigeminal autonomic cephalalgia -Orphanet:221091 Trigeminal neuralgia -Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome -Orphanet:3365 Trigonocephaly-broad thumbs syndrome -Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome -Orphanet:868 Triose phosphate-isomerase deficiency -Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome -Orphanet:869 Triple A syndrome -Orphanet:3376 Triploidy -Orphanet:3377 Trismus-pseudocamptodactyly syndrome -Orphanet:171929 Trisomy 10p -Orphanet:1699 Trisomy 12p -Orphanet:3378 Trisomy 13 -Orphanet:261290 Trisomy 17p -Orphanet:3380 Trisomy 18 -Orphanet:1715 Trisomy 18p -Orphanet:261344 Trisomy 1q -Orphanet:261318 Trisomy 20p -Orphanet:1738 Trisomy 4p -Orphanet:1742 Trisomy 5p -Orphanet:264450 Trisomy 8p -Orphanet:1752 Trisomy 8q -Orphanet:236 Trisomy 9p -Orphanet:3375 Trisomy X -Orphanet:88629 Tritanopia -Orphanet:75565 Tropical endomyocardial fibrosis -Orphanet:103918 Tropical pancreatitis -Orphanet:289326 Tropical spastic paraparesis -Orphanet:295030 True congenital shoulder dislocation -Orphanet:645383 True myelomeningocele +Orphanet:658602 Transplant-related bronchiolitis obliterans Orphanet:645401 True myeloschisis -Orphanet:180074 True unicornuate uterus -Orphanet:3384 Truncus arteriosus -Orphanet:3389 Tuberculosis -Orphanet:805 Tuberous sclerosis complex -Orphanet:2593 Tubular aggregate myopathy -Orphanet:100048 Tubular duplication of the esophagus -Orphanet:467166 Tubulinopathy-associated dysgyria -Orphanet:319325 Tubulocystic renal cell carcinoma -Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome -Orphanet:1063 Tufted angioma -Orphanet:3392 Tularemia -Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome -Orphanet:252057 Tumor of cranial and spinal nerves -Orphanet:182130 Tumor of endocrine glands -Orphanet:68347 Tumor of hematopoietic and lymphoid tissues -Orphanet:252025 Tumor of meninges -Orphanet:363472 Tumor of testis and paratestis -Orphanet:879 Tungiasis -Orphanet:99053 Tunnel subaortic stenosis -Orphanet:99818 Turcot syndrome with polyposis -Orphanet:881 Turner syndrome -Orphanet:99413 Turner syndrome due to structural X chromosome anomalies -Orphanet:617294 Twin anemia-polycythemia sequence -Orphanet:95431 Twin to twin transfusion syndrome -Orphanet:617297 Twin-reversed arterial perfusion sequence -Orphanet:477647 Type 1 interferonopathy -Orphanet:481671 Type 1 interferonopathy of childhood -Orphanet:93422 Type 11 collagen-related bone disorder -Orphanet:93421 Type 2 collagen-related bone disorder -Orphanet:99745 Typhoid -Orphanet:102023 Typhus-group rickettsiosis -Orphanet:171436 Typical nemaline myopathy -Orphanet:158766 Typical urticaria pigmentosa -Orphanet:882 Tyrosinemia type 1 -Orphanet:28378 Tyrosinemia type 2 -Orphanet:69723 Tyrosinemia type 3 -Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease -Orphanet:481665 USP18 deficiency -Orphanet:178338 UV-sensitive syndrome -Orphanet:3403 Uhl anomaly -Orphanet:3404 Ulbright-Hodes syndrome -Orphanet:3406 Ulerythema ophryogenesis -Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome -Orphanet:1837 Ulna metaphyseal dysplasia syndrome -Orphanet:93320 Ulnar hemimelia -Orphanet:1122 Ulnar hypoplasia-split foot syndrome -Orphanet:3138 Ulnar-mammary syndrome -Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome -Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome -Orphanet:324936 Unclassified autoinflammatory syndrome Orphanet:324953 Unclassified autoinflammatory syndrome of childhood -Orphanet:217678 Unclassified cardiomyopathy -Orphanet:79385 Unclassified genetic skin disorder -Orphanet:104078 Unclassified intestinal pseudoobstruction -Orphanet:98827 Unclassified myelodysplastic syndrome -Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease -Orphanet:251328 Unclassified vasculitis -Orphanet:1410 Uncombable hair syndrome -Orphanet:103920 Undetermined colitis -Orphanet:418951 Undifferentiated carcinoma of esophagus -Orphanet:424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract -Orphanet:423786 Undifferentiated carcinoma of stomach -Orphanet:213721 Undifferentiated carcinoma of the corpus uteri -Orphanet:424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas -Orphanet:90002 Undifferentiated connective tissue syndrome -Orphanet:178315 Undifferentiated embryonal sarcoma of the liver -Orphanet:2023 Undifferentiated pleomorphic sarcoma -Orphanet:251332 Unexplained long-lasting fever/inflammatory syndrome -Orphanet:102237 Unexplained periodic fever syndrome Orphanet:324960 Unexplained periodic fever syndrome of childhood -Orphanet:93685 Unicentric Castleman disease -Orphanet:180114 Unicervical bicornuate uterus -Orphanet:93176 Unilateral congenital megacalycosis -Orphanet:268947 Unilateral focal polymicrogyria -Orphanet:101071 Unilateral hemispheric polymicrogyria -Orphanet:97363 Unilateral multicystic dysplastic kidney -Orphanet:3374 Unilateral ocular duplication -Orphanet:268943 Unilateral polymicrogyria -Orphanet:263793 Uniparental disomy of chromosome X -Orphanet:95483 Univentricular cardiopathy -Orphanet:1464 Univentricular heart -Orphanet:91140 Unspecified juvenile idiopathic arthritis -Orphanet:254837 Unspecified mitochondrial disorder -Orphanet:99139 Unstable hemoglobin disease -Orphanet:3408 Upington disease -Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome -Orphanet:295049 Upper limb hypertrophy -Orphanet:2497 Upper limb mesomelic dysplasia -Orphanet:598216 Upper tract urothelial carcinoma -Orphanet:488 Urachal cyst -Orphanet:431347 Urachal diverticulum -Orphanet:431344 Urachal sinus -Orphanet:3409 Urban-Rogers-Meyer syndrome -Orphanet:210128 Urocanic aciduria -Orphanet:83001 Urogenital tract malformation -Orphanet:886 Usher syndrome -Orphanet:231169 Usher syndrome type 1 -Orphanet:231178 Usher syndrome type 2 -Orphanet:231183 Usher syndrome type 3 -Orphanet:180145 Uterine cervical aplasia and agenesis -Orphanet:180139 Uterine hypoplasia -Orphanet:180062 Uterovaginal malformation -Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability -Orphanet:39044 Uveal melanoma -Orphanet:98715 Uveitis -Orphanet:3412 VACTERL with hydrocephalus -Orphanet:887 VACTERL/VATER association -Orphanet:596753 VEXAS syndrome -Orphanet:97282 VIPoma -Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy -Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates -Orphanet:65681 Vaginal atresia -Orphanet:180247 Vaginal carcinoma -Orphanet:99054 Valvular pulmonary stenosis -Orphanet:3417 Van den Bosch syndrome -Orphanet:2460 Van den Ende-Gupta syndrome -Orphanet:888 Van der Woude syndrome -Orphanet:454742 Variably protease-sensitive prionopathy -Orphanet:314652 Variant ABeta2M amyloidosis -Orphanet:576370 Variant Creutzfeldt-Jakob disease -Orphanet:231413 Variant of Guillain-Barré syndrome -Orphanet:286 Vascular Ehlers-Danlos syndrome -Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome -Orphanet:68419 Vascular anomaly or angioma -Orphanet:458827 Vascular tumor with associated anomalies -Orphanet:52759 Vasculitis -Orphanet:404553 Vasculitis due to ADA2 deficiency -Orphanet:353356 Vasoproliferative tumor of the retina -Orphanet:538872 Vegetative pyoderma gangrenosum -Orphanet:1053 Vein of Galen aneurysmal malformation -Orphanet:3424 Velo-facial-skeletal syndrome -Orphanet:319234 Venezuelan hemorrhagic fever -Orphanet:357131 Venous thoracic outlet syndrome -Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome -Orphanet:443988 Ventriculomegaly-cystic kidney disease -Orphanet:3429 Verloove Vanhorick-Brubakk syndrome -Orphanet:70476 Vernal keratoconjunctivitis -Orphanet:464318 Verrucous hemangioma -Orphanet:79467 Verrucous nevus -Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency -Orphanet:252175 Vestibular schwannoma -Orphanet:493342 Vibratory urticaria -Orphanet:1493 Vici syndrome -Orphanet:341 Viral hemorrhagic fever -Orphanet:206991 Viral myositis -Orphanet:228379 Virus-associated trichodysplasia spinulosa -Orphanet:280068 Visceral calciphylaxis -Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen -Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome -Orphanet:420556 Visual snow syndrome -Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia -Orphanet:28 Vitamin B12-responsive methylmalonic acidemia -Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA -Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB -Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 -Orphanet:27 Vitamin B12-unresponsive methylmalonic acidemia -Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- -Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 -Orphanet:1914 Vitamin K antagonist embryofetopathy -Orphanet:98668 Vitreoretinopathy -Orphanet:600 Vocal cord and pharyngeal distal myopathy -Orphanet:3437 Vogt-Koyanagi-Harada disease -Orphanet:892 Von Hippel-Lindau disease -Orphanet:3439 Von Voss-Cherstvoy syndrome -Orphanet:903 Von Willebrand disease -Orphanet:166078 Von Willebrand disease type 1 -Orphanet:166081 Von Willebrand disease type 2 -Orphanet:166084 Von Willebrand disease type 2A -Orphanet:166087 Von Willebrand disease type 2B -Orphanet:166090 Von Willebrand disease type 2M -Orphanet:166093 Von Willebrand disease type 2N -Orphanet:166096 Von Willebrand disease type 3 -Orphanet:494454 Vulvar adenocarcinoma -Orphanet:494451 Vulvar basal cell carcinoma -Orphanet:494418 Vulvar carcinoma -Orphanet:137583 Vulvar intraepithelial neoplasia -Orphanet:494448 Vulvar squamous cell carcinoma -Orphanet:83453 Vulvovaginal gingival syndrome -Orphanet:206492 Vulvovaginal rhabdomyosarcoma -Orphanet:2804 W syndrome -Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome -Orphanet:893 WAGR syndrome -Orphanet:572798 WARS2-related combined oxidative phosphorylation defect -Orphanet:51636 WHIM syndrome -Orphanet:3466 WT limb-blood syndrome -Orphanet:3440 Waardenburg syndrome -Orphanet:894 Waardenburg syndrome type 1 -Orphanet:895 Waardenburg syndrome type 2 -Orphanet:896 Waardenburg syndrome type 3 -Orphanet:897 Waardenburg-Shah syndrome -Orphanet:898 Wagner disease -Orphanet:33226 Waldenström macroglobulinemia -Orphanet:899 Walker-Warburg syndrome -Orphanet:280558 Warsaw breakage syndrome -Orphanet:568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome -Orphanet:69745 Warty dyskeratoma -Orphanet:100067 Waterhouse-Friderichsen syndrome -Orphanet:3447 Weaver syndrome -Orphanet:3448 Weaver-Williams syndrome -Orphanet:3449 Weill-Marchesani syndrome -Orphanet:3344 Weismann-Netter syndrome -Orphanet:284395 Well-differentiated fetal adenocarcinoma of the lung -Orphanet:99971 Well-differentiated liposarcoma -Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma -Orphanet:901 Wells syndrome -Orphanet:902 Werner syndrome -Orphanet:83476 West-Nile encephalitis -Orphanet:83593 Western equine encephalitis -Orphanet:3452 Whipple disease -Orphanet:228290 White fibrous papulosis of the neck -Orphanet:2475 White forelock with malformations -Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome -Orphanet:370131 White platelet syndrome -Orphanet:171723 White sponge nevus -Orphanet:468678 White-Sutton syndrome -Orphanet:1489 Whooping cough -Orphanet:3455 Wiedemann-Rautenstrauch syndrome -Orphanet:319182 Wiedemann-Steiner syndrome -Orphanet:85446 Wild type ABeta2M amyloidosis -Orphanet:330001 Wild type ATTR amyloidosis -Orphanet:3456 Wildervanck syndrome -Orphanet:904 Williams syndrome -Orphanet:411501 Williams-Campbell syndrome -Orphanet:905 Wilson disease -Orphanet:3459 Wilson-Turner syndrome -Orphanet:906 Wiskott-Aldrich syndrome -Orphanet:500163 Witteveen-Kolk syndrome -Orphanet:1667 Wolcott-Rallison syndrome -Orphanet:280 Wolf-Hirschhorn syndrome -Orphanet:3463 Wolfram syndrome -Orphanet:411590 Wolfram-like syndrome -Orphanet:75233 Wolman disease -Orphanet:3464 Woodhouse-Sakati syndrome -Orphanet:170 Woolly hair -Orphanet:79414 Woolly hair nevus -Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome -Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia -Orphanet:3465 Worster-Drought syndrome -Orphanet:178475 Wound botulism -Orphanet:165955 Wound myiasis -Orphanet:2834 Wrinkly skin syndrome -Orphanet:53719 Wyburn-Mason syndrome -Orphanet:263749 X and Y chromosomal anomaly -Orphanet:263714 X chromosome number anomaly -Orphanet:263717 X chromosome number anomaly with female phenotype -Orphanet:263720 X chromosome number anomaly with male phenotype -Orphanet:96201 X small rings -Orphanet:88917 X-linked Alport syndrome -Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis -Orphanet:64747 X-linked Charcot-Marie-Tooth disease -Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 -Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 -Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 -Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 -Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 -Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 -Orphanet:75497 X-linked Ehlers-Danlos syndrome -Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy -Orphanet:300373 X-linked acrogigantism -Orphanet:95702 X-linked adrenal hypoplasia congenita -Orphanet:43 X-linked adrenoleukodystrophy -Orphanet:47 X-linked agammaglobulinemia -Orphanet:391327 X-linked calvarial hyperostosis -Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement -Orphanet:596 X-linked centronuclear myopathy -Orphanet:247765 X-linked cerebellar ataxia -Orphanet:139396 X-linked cerebral adrenoleukodystrophy -Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome -Orphanet:324601 X-linked cleft palate and ankyloglossia -Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -Orphanet:98888 X-linked complex spastic paraplegia -Orphanet:1497 X-linked complicated corpus callosum dysgenesis -Orphanet:306617 X-linked complicated spastic paraplegia type 1 -Orphanet:90001 X-linked cone dysfunction syndrome with myopia -Orphanet:79495 X-linked congenital generalized hypertrichosis -Orphanet:1661 X-linked corneal dermoid -Orphanet:52503 X-linked creatine transporter deficiency -Orphanet:404538 X-linked distal hereditary motor neuropathy -Orphanet:139557 X-linked distal spinal muscular atrophy type 3 -Orphanet:35173 X-linked dominant chondrodysplasia punctata -Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type -Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia -Orphanet:53351 X-linked dystonia-parkinsonism -Orphanet:293621 X-linked endothelial corneal dystrophy -Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome -Orphanet:443197 X-linked erythropoietic protoporphyria -Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome -Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability -Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness -Orphanet:101088 X-linked hyper-IgM syndrome -Orphanet:181 X-linked hypohidrotic ectodermal dysplasia -Orphanet:89936 X-linked hypophosphatemia -Orphanet:281210 X-linked ichthyosis syndrome -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia -Orphanet:2571 X-linked immunoneurologic disorder -Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations -Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency -Orphanet:85273 X-linked intellectual disability, Abidi type -Orphanet:85276 X-linked intellectual disability, Armfield type -Orphanet:85293 X-linked intellectual disability, Cabezas type -Orphanet:85277 X-linked intellectual disability, Cantagrel type -Orphanet:163971 X-linked intellectual disability, Cilliers type -Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type -Orphanet:93952 X-linked intellectual disability, Hedera type -Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type -Orphanet:163937 X-linked intellectual disability, Najm type -Orphanet:163956 X-linked intellectual disability, Nascimento type -Orphanet:85322 X-linked intellectual disability, Pai type -Orphanet:93945 X-linked intellectual disability, Porteous type -Orphanet:85285 X-linked intellectual disability, Schimke type -Orphanet:85323 X-linked intellectual disability, Seemanova type -Orphanet:85286 X-linked intellectual disability, Shashi type -Orphanet:85324 X-linked intellectual disability, Shrimpton type -Orphanet:85287 X-linked intellectual disability, Siderius type -Orphanet:3063 X-linked intellectual disability, Snyder type -Orphanet:85325 X-linked intellectual disability, Stevenson type -Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type -Orphanet:85326 X-linked intellectual disability, Stoll type -Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type -Orphanet:163976 X-linked intellectual disability, Van Esch type -Orphanet:85290 X-linked intellectual disability, Wilson type -Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome -Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome -Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome -Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome -Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome -Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome -Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome -Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome -Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome -Orphanet:2076 X-linked intellectual disability-epilepsy syndrome -Orphanet:85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome -Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome -Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome -Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome -Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome -Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome -Orphanet:85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome -Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome -Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome -Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome -Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome -Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome -Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome -Orphanet:79447 X-linked lethal multiple pterygium syndrome -Orphanet:452 X-linked lissencephaly with abnormal genitalia -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency -Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency -Orphanet:1131 X-linked mandibulofacial dysostosis -Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases -Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency -Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency -Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome -Orphanet:25980 X-linked myopathy with excessive autophagy -Orphanet:178461 X-linked myopathy with postural muscle atrophy -Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome -Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type -Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type -Orphanet:314978 X-linked non progressive cerebellar ataxia -Orphanet:777 X-linked non-syndromic intellectual disability -Orphanet:391330 X-linked osteoporosis with fractures -Orphanet:363654 X-linked parkinsonism-spasticity syndrome -Orphanet:1175 X-linked progressive cerebellar ataxia -Orphanet:320332 X-linked pure spastic paraplegia -Orphanet:54 X-linked recessive ocular albinism -Orphanet:85453 X-linked reticulate pigmentary disorder -Orphanet:1852 X-linked retinal dysplasia -Orphanet:792 X-linked retinoschisis -Orphanet:431272 X-linked scapuloperoneal muscular dystrophy -Orphanet:86788 X-linked severe congenital neutropenia -Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissection -Orphanet:75563 X-linked sideroblastic anemia -Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia -Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome -Orphanet:100997 X-linked spastic paraplegia type 16 -Orphanet:171607 X-linked spastic paraplegia type 34 -Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome -Orphanet:85297 X-linked spinocerebellar ataxia type 3 -Orphanet:85292 X-linked spinocerebellar ataxia type 4 -Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia -Orphanet:852 X-linked thrombocytopenia with normal platelets -Orphanet:3469 XK aprosencephaly syndrome -Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome -Orphanet:370930 XYLT1-CDG -Orphanet:93601 Xanthinuria type I -Orphanet:93602 Xanthinuria type II -Orphanet:158003 Xanthoma disseminatum -Orphanet:910 Xeroderma pigmentosum -Orphanet:90342 Xeroderma pigmentosum variant -Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex -Orphanet:261476 Xp21 deletion syndrome -Orphanet:284180 Xp22.13p22.2 duplication syndrome -Orphanet:1643 Xp22.3 microdeletion syndrome -Orphanet:314389 Xq12-q13.3 duplication syndrome -Orphanet:1435 Xq21 microdeletion syndrome -Orphanet:521258 Xq25 microduplication syndrome -Orphanet:261483 Xq27.3q28 duplication syndrome -Orphanet:263746 Y chromosome number anomaly -Orphanet:99829 Yellow fever -Orphanet:662 Yellow nail syndrome -Orphanet:876 Yolk sac tumor -Orphanet:252006 Yolk sac tumor of central nervous system -Orphanet:314485 Young adult-onset distal hereditary motor neuropathy -Orphanet:3471 Young syndrome -Orphanet:2828 Young-onset Parkinson disease -Orphanet:3472 Yunis-Varon syndrome -Orphanet:97240 Zebra body myopathy -Orphanet:217017 Zechi-Ceide syndrome -Orphanet:912 Zellweger syndrome -Orphanet:50812 Zellweger-like syndrome without peroxisomal anomalies -Orphanet:448237 Zika virus disease -Orphanet:3473 Zimmermann-Laband syndrome -Orphanet:439196 Zinc-responsive necrolytic acral erythema -Orphanet:913 Zollinger-Ellison syndrome -Orphanet:295187 Zygodactyly type 1 -Orphanet:295189 Zygodactyly type 2 -Orphanet:295191 Zygodactyly type 3 -Orphanet:295193 Zygodactyly type 4 -Orphanet:73263 Zygomycosis -Orphanet:377790 biological anomaly -Orphanet:377792 clinical syndrome -Orphanet:377788 disease -Orphanet:557493 disorder -Orphanet:557492 group of disorders -Orphanet:377789 malformation syndrome -Orphanet:377791 morphological anomaly -Orphanet:377793 particular clinical situation in a disease or syndrome -Orphanet:557494 subtype of a disorder -Orphanet:178333 Åland Islands eye disease +Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index d6ea6ae6..afc80995 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -115,3 +115,43 @@ MONDO:0957620 juvenile amyotrophic lateral sclerosis type 27 DOID:0081381 MONDO: MONDO:0957621 amyotrophic lateral sclerosis type 28 DOID:0081382 MONDO:equivalentTo amyotrophic lateral sclerosis type 28 An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. MONDO:0004976|MONDO:0000426 MONDO:0957847 sotos syndrome 1 DOID:0112103 MONDO:equivalentTo Sotos syndrome 1 MONDO:0019349|MONDO:0000426 MONDO:0957848 epstein-barr virus infectious disease DOID:2938 MONDO:equivalentTo Epstein-Barr virus infectious disease MONDO:0005108 +MONDO:0957878 proteosome-associated autoinflammatory syndrome DOID:0060913 MONDO:equivalentTo proteosome-associated autoinflammatory syndrome MONDO:0002254 +MONDO:0957879 otosclerosis 1 DOID:0060920 MONDO:equivalentTo otosclerosis 1 MONDO:0005349 +MONDO:0957880 otosclerosis 2 DOID:0060921 MONDO:equivalentTo otosclerosis 2 MONDO:0005349 +MONDO:0957881 otosclerosis 3 DOID:0060922 MONDO:equivalentTo otosclerosis 3 MONDO:0005349 +MONDO:0957882 otosclerosis 4 DOID:0060923 MONDO:equivalentTo otosclerosis 4 MONDO:0005349 +MONDO:0957883 otosclerosis 5 DOID:0060924 MONDO:equivalentTo otosclerosis 5 MONDO:0005349 +MONDO:0957884 otosclerosis 7 DOID:0060925 MONDO:equivalentTo otosclerosis 7 MONDO:0005349 +MONDO:0957885 otosclerosis 8 DOID:0060926 MONDO:equivalentTo otosclerosis 8 MONDO:0005349 +MONDO:0957886 otosclerosis 10 DOID:0060927 MONDO:equivalentTo otosclerosis 10 MONDO:0005349 +MONDO:0957887 otosclerosis 11 DOID:0060928 MONDO:equivalentTo otosclerosis 11 MONDO:0005349 +MONDO:0957888 non-syndromic x-linked intellectual developmental disorder 111 DOID:0060929 MONDO:equivalentTo non-syndromic X-linked intellectual developmental disorder 111 MONDO:0019181 +MONDO:0957889 chromosome 1p36.33 duplication syndrome DOID:0070470 MONDO:equivalentTo chromosome 1p36.33 duplication syndrome MONDO:0000426|MONDO:0000762 +MONDO:0957890 zaki syndrome DOID:0070473 MONDO:equivalentTo Zaki syndrome MONDO:0002254|MONDO:0006025 +MONDO:0957891 childhood-onset neurodegeneration with brain atrophy DOID:0070474 MONDO:equivalentTo childhood-onset neurodegeneration with brain atrophy MONDO:0000426|MONDO:0005559 +MONDO:0957892 mitochondrial complex iv deficiency nuclear type 23 DOID:0070485 MONDO:equivalentTo mitochondrial complex IV deficiency nuclear type 23 MONDO:0009068|MONDO:0006025 +MONDO:0957893 parkinson's disease 25 DOID:0070486 MONDO:equivalentTo Parkinson's disease 25 MONDO:0017279|MONDO:0006025 +MONDO:0957894 dopamine transporter deficiency syndrome DOID:0070487 MONDO:equivalentTo dopamine transporter deficiency syndrome MONDO:0005395|MONDO:0000429 +MONDO:0957895 infantile parkinsonism-dystonia 2 DOID:0070490 MONDO:equivalentTo infantile parkinsonism-dystonia 2 MONDO:0005395|MONDO:0006025 +MONDO:0957896 metabolic dysfunction and alcohol associated liver disease DOID:0070508 MONDO:equivalentTo metabolic dysfunction and alcohol associated liver disease MONDO:0004790 +MONDO:0957897 schinzel giedion syndrome DOID:0070509 MONDO:equivalentTo Schinzel Giedion syndrome MONDO:0000426|MONDO:0019287 +MONDO:0957898 inflammatory poikiloderma with hair abnormalities and acral keratoses DOID:0070510 MONDO:equivalentTo inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0006025|MONDO:0005093 +MONDO:0957899 polyhydramnios, megalencephaly, and symptomatic epilepsy DOID:0070511 MONDO:equivalentTo polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0006025|MONDO:0002254 +MONDO:0957900 neurodevelopmental disorder with hypotonia and speech delay DOID:0070512 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and speech delay MONDO:0002254|MONDO:0000429 +MONDO:0957901 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities DOID:0070513 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0015802 +MONDO:0957902 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies DOID:0070514 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0015802 +MONDO:0957903 chromosome 16p11.2 deletion syndrome, 593-kb DOID:0070515 MONDO:equivalentTo chromosome 16p11.2 deletion syndrome, 593-kb MONDO:0000761 +MONDO:0957904 mitchell syndrome DOID:0070516 MONDO:equivalentTo Mitchell syndrome MONDO:0019053|MONDO:0000426 +MONDO:0957905 ataxia-oculomotor apraxia type 4 DOID:0081383 MONDO:equivalentTo ataxia-oculomotor apraxia type 4 An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. MONDO:0015244 +MONDO:0957906 ataxia-telangiectasia-like disorder-1 DOID:0081384 MONDO:equivalentTo ataxia-telangiectasia-like disorder-1 An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. MONDO:0015244 +MONDO:0957907 ataxia-telangiectasia-like disorder-2 DOID:0081385 MONDO:equivalentTo ataxia-telangiectasia-like disorder-2 An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. MONDO:0015244 +MONDO:0957908 tango2-related metabolic encephalopathy and arrythmias DOID:0081386 MONDO:equivalentTo TANGO2-related metabolic encephalopathy and arrythmias A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. MONDO:0002254|MONDO:0006025 +MONDO:0957909 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities DOID:0081387 MONDO:equivalentTo neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. MONDO:0019502 +MONDO:0957910 primary progressive aphasia DOID:0081388 MONDO:equivalentTo primary progressive aphasia A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. MONDO:0017276 +MONDO:0957911 corticobasal degeneration syndrome DOID:0081392 MONDO:equivalentTo corticobasal degeneration syndrome A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. MONDO:0017276 +MONDO:0957912 organophosphate-induced delayed polyneuropathy DOID:0081393 MONDO:equivalentTo organophosphate-induced delayed polyneuropathy An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. MONDO:0002336 +MONDO:0957913 caroli syndrome DOID:0081394 MONDO:equivalentTo Caroli syndrome A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. MONDO:0004634|MONDO:0002887|MONDO:0002405|MONDO:0002254|MONDO:0006025 +MONDO:0957914 harel-yoon syndrome DOID:0081395 MONDO:equivalentTo Harel-Yoon syndrome A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. MONDO:0006025|MONDO:0000426|MONDO:0002254 +MONDO:0957915 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome DOID:0081396 MONDO:equivalentTo neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. MONDO:0002254|MONDO:0006025 +MONDO:0957916 vissers-bodmer syndrome DOID:0081397 MONDO:equivalentTo Vissers-Bodmer syndrome A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. MONDO:0002254|MONDO:0000426 +MONDO:0957917 holoprosencephaly 12 DOID:0081398 MONDO:equivalentTo holoprosencephaly 12 A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. MONDO:0016296|MONDO:0000426 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 6e4b9af1..6ee9bbcc 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -16,7 +16,7 @@ MONDO:0957498 craniofacial microsomia OMIMPS:164210 MONDO:equivalentTo Craniofac MONDO:0957550 birt-hogg-dube syndrome OMIMPS:135150 MONDO:equivalentTo Birt-Hogg-Dube syndrome MONDO:0957551 oculopharyngeal muscular dystrophy OMIMPS:164300 MONDO:equivalentTo Oculopharyngeal muscular dystrophy MONDO:0957552 chronic recurrent multifocal osteomyelitis OMIMPS:609628 MONDO:equivalentTo Chronic recurrent multifocal osteomyelitis -MONDO:0957553 houte-janssens syndrome OMIMPS:616355 MONDO:equivalentTo Houte-Janssens syndrome +MONDO:0957553 houge-janssens syndrome OMIMPS:616355 MONDO:equivalentTo Houge-Janssens syndrome MONDO:0957560 hearing loss, noise-induced, susceptibility to OMIM:613035 MONDO:equivalentTo hearing loss, noise-induced, susceptibility to MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:620461 MONDO:equivalentTo encephalitis, acute, infection-induced, susceptibility to, 12 MONDO:0000166 MONDO:0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay OMIM:620469 MONDO:equivalentTo cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay @@ -67,3 +67,113 @@ MONDO:0957873 leukoencephalopathy with vanishing white matter 5 OMIM:620315 MOND MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 OMIM:620402 MONDO:equivalentTo neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO:0015363 MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 OMIM:620528 MONDO:equivalentTo neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0015362 MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 OMIM:620542 MONDO:equivalentTo neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0015363 +MONDO:0957919 lui-jee-baron syndrome OMIM:301114 MONDO:equivalentTo lui-jee-baron syndrome +MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation OMIM:620565 MONDO:equivalentTo immunodeficiency 113 with autoimmunity and autoinflammation MONDO:0021094 +MONDO:0957921 cornelia lange lange syndrome 6 OMIM:620568 MONDO:equivalentTo cornelia lange lange syndrome 6 MONDO:0016033 +MONDO:0957922 ciliary dyskinesia, primary, 52 OMIM:620570 MONDO:equivalentTo ciliary dyskinesia, primary, 52 MONDO:0016575 +MONDO:0957923 mir512-1 OMIM:620571 MONDO:equivalentTo MIR512-1 +MONDO:0957924 mir512-2 OMIM:620572 MONDO:equivalentTo MIR512-2 +MONDO:0957925 mir520e OMIM:620573 MONDO:equivalentTo MIR520E +MONDO:0957926 mir515-1 OMIM:620574 MONDO:equivalentTo MIR515-1 +MONDO:0957927 mir519e OMIM:620575 MONDO:equivalentTo MIR519E +MONDO:0957928 otosclerosis 11 OMIM:620576 MONDO:equivalentTo otosclerosis 11 MONDO:0005349 +MONDO:0957929 fads6 OMIM:620577 MONDO:equivalentTo FADS6 +MONDO:0957930 uqcc4 OMIM:620578 MONDO:equivalentTo UQCC4 +MONDO:0957931 ccdc3 OMIM:620579 MONDO:equivalentTo CCDC3 +MONDO:0957932 dqx1 OMIM:620580 MONDO:equivalentTo DQX1 +MONDO:0957933 oxnad1 OMIM:620581 MONDO:equivalentTo OXNAD1 +MONDO:0957934 c1orf210 OMIM:620582 MONDO:equivalentTo C1ORF210 +MONDO:0957935 optic atrophy 15 OMIM:620583 MONDO:equivalentTo optic atrophy 15 MONDO:0043878 +MONDO:0957936 mir498 OMIM:620584 MONDO:equivalentTo MIR498 +MONDO:0957937 mir520f OMIM:620585 MONDO:equivalentTo MIR520F +MONDO:0957938 mir515-2 OMIM:620586 MONDO:equivalentTo MIR515-2 +MONDO:0957939 mir519c OMIM:620587 MONDO:equivalentTo MIR519C +MONDO:0957940 mir520a OMIM:620588 MONDO:equivalentTo MIR520A +MONDO:0957941 mir526b OMIM:620589 MONDO:equivalentTo MIR526B +MONDO:0957942 rsad1 OMIM:620590 MONDO:equivalentTo RSAD1 +MONDO:0957943 mir519b OMIM:620591 MONDO:equivalentTo MIR519B +MONDO:0957944 mir525 OMIM:620592 MONDO:equivalentTo MIR525 +MONDO:0957945 mir523 OMIM:620593 MONDO:equivalentTo MIR523 +MONDO:0957946 mir518f OMIM:620594 MONDO:equivalentTo MIR518F +MONDO:0957947 mir520b OMIM:620595 MONDO:equivalentTo MIR520B +MONDO:0957948 mir518b OMIM:620596 MONDO:equivalentTo MIR518B +MONDO:0957949 mir526a1 OMIM:620597 MONDO:equivalentTo MIR526A1 +MONDO:0957950 mir518c OMIM:620598 MONDO:equivalentTo MIR518C +MONDO:0957951 mir524 OMIM:620599 MONDO:equivalentTo MIR524 +MONDO:0957952 mir517a OMIM:620600 MONDO:equivalentTo MIR517A +MONDO:0957953 garg-mishra progeroid syndrome OMIM:620601 MONDO:equivalentTo garg-mishra progeroid syndrome MONDO:0020732 +MONDO:0957954 lymphatic malformation 14 OMIM:620602 MONDO:equivalentTo lymphatic malformation 14 MONDO:0019313 +MONDO:0957955 immunodeficiency 114, folate-responsive OMIM:620603 MONDO:equivalentTo immunodeficiency 114, folate-responsive MONDO:0021094 +MONDO:0957956 ptgr3 OMIM:620604 MONDO:equivalentTo PTGR3 +MONDO:0957957 cyp27c1 OMIM:620605 MONDO:equivalentTo CYP27C1 +MONDO:0957958 spastic paraplegia 72b, autosomal recessive OMIM:620606 MONDO:equivalentTo spastic paraplegia 72b, autosomal recessive MONDO:0019064 +MONDO:0957959 tex264 OMIM:620608 MONDO:equivalentTo TEX264 +MONDO:0957960 long-olsen-distelmaier syndrome OMIM:620609 MONDO:equivalentTo long-olsen-distelmaier syndrome +MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 OMIM:620610 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 21 MONDO:0014769 +MONDO:0957962 mir521-2 OMIM:620611 MONDO:equivalentTo MIR521-2 +MONDO:0957963 mir520d OMIM:620612 MONDO:equivalentTo MIR520D +MONDO:0957964 mir517b OMIM:620613 MONDO:equivalentTo MIR517B +MONDO:0957965 mir516b2 OMIM:620614 MONDO:equivalentTo MIR516B2 +MONDO:0957966 mir526a2 OMIM:620615 MONDO:equivalentTo MIR526A2 +MONDO:0957967 mir518e OMIM:620616 MONDO:equivalentTo MIR518E +MONDO:0957968 mir518a1 OMIM:620617 MONDO:equivalentTo MIR518A1 +MONDO:0957969 mir518d OMIM:620618 MONDO:equivalentTo MIR518D +MONDO:0957970 mir516b1 OMIM:620619 MONDO:equivalentTo MIR516B1 +MONDO:0957971 mir518a2 OMIM:620620 MONDO:equivalentTo MIR518A2 +MONDO:0957972 mir517c OMIM:620621 MONDO:equivalentTo MIR517C +MONDO:0957973 mir521-1 OMIM:620622 MONDO:equivalentTo MIR521-1 +MONDO:0957974 mir522 OMIM:620623 MONDO:equivalentTo MIR522 +MONDO:0957975 mir519a1 OMIM:620624 MONDO:equivalentTo MIR519A1 +MONDO:0957976 mir527 OMIM:620625 MONDO:equivalentTo MIR527 +MONDO:0957977 mir516a1 OMIM:620626 MONDO:equivalentTo MIR516A1 +MONDO:0957978 optic atrophy 16 OMIM:620629 MONDO:equivalentTo optic atrophy 16 MONDO:0043878 +MONDO:0957979 tmem170a OMIM:620630 MONDO:equivalentTo TMEM170A +MONDO:0957980 emc7 OMIM:620631 MONDO:equivalentTo EMC7 +MONDO:0957981 immunodeficiency 115 with autoinflammation OMIM:620632 MONDO:equivalentTo immunodeficiency 115 with autoinflammation MONDO:0021094 +MONDO:0957982 golt1a OMIM:620633 MONDO:equivalentTo GOLT1A +MONDO:0957983 irgc OMIM:620634 MONDO:equivalentTo IRGC +MONDO:0957984 cardiomyopathy, dilated, 2j OMIM:620635 MONDO:equivalentTo cardiomyopathy, dilated, 2j MONDO:0016333 +MONDO:0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM:620636 MONDO:equivalentTo neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline +MONDO:0957986 cped1 OMIM:620637 MONDO:equivalentTo CPED1 +MONDO:0957987 kctd4 OMIM:620638 MONDO:equivalentTo KCTD4 +MONDO:0957988 osteogenesis imperfecta, iia 23 OMIM:620639 MONDO:equivalentTo osteogenesis imperfecta, iia 23 MONDO:0019019 +MONDO:0957989 rnf145 OMIM:620640 MONDO:equivalentTo RNF145 +MONDO:0957990 tan-almurshedi syndrome OMIM:620641 MONDO:equivalentTo tan-almurshedi syndrome +MONDO:0957991 ciliary dyskinesia, primary, 53 OMIM:620642 MONDO:equivalentTo ciliary dyskinesia, primary, 53 MONDO:0016575 +MONDO:0957992 combined oxidative phosphorylation deficiency 59 OMIM:620646 MONDO:equivalentTo combined oxidative phosphorylation deficiency 59 MONDO:0000732 +MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 OMIM:620647 MONDO:equivalentTo progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 MONDO:0000090 +MONDO:0957994 btnl9 OMIM:620648 MONDO:equivalentTo BTNL9 +MONDO:0957995 pla2g4e OMIM:620649 MONDO:equivalentTo PLA2G4E +MONDO:0957996 glod4 OMIM:620650 MONDO:equivalentTo GLOD4 +MONDO:0957997 diabetes, deafness, developmental delay, and short stature syndrome OMIM:620651 MONDO:equivalentTo diabetes, deafness, developmental delay, and short stature syndrome +MONDO:0957998 sh3bp5l OMIM:620652 MONDO:equivalentTo SH3BP5L +MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly OMIM:620653 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly MONDO:0019502 +MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM:620654 MONDO:equivalentTo thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:0100241 +MONDO:0958001 alfadhel syndrome OMIM:620655 MONDO:equivalentTo alfadhel syndrome +MONDO:0958002 psd2 OMIM:620656 MONDO:equivalentTo PSD2 +MONDO:0958003 ccz1 OMIM:620660 MONDO:equivalentTo CCZ1 +MONDO:0958004 c10orf88 OMIM:620661 MONDO:equivalentTo C10ORF88 +MONDO:0958005 hoxha-aliu syndrome OMIM:620662 MONDO:equivalentTo hoxha-aliu syndrome +MONDO:0958006 spondyloepimetaphyseal dysplasia, guo-campeau iia OMIM:620663 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, guo-campeau iia +MONDO:0958007 arhgef37 OMIM:620664 MONDO:equivalentTo ARHGEF37 +MONDO:0958008 plekhg4b OMIM:620665 MONDO:equivalentTo PLEKHG4B +MONDO:0958009 spastic ataxia 10, autosomal recessive OMIM:620666 MONDO:equivalentTo spastic ataxia 10, autosomal recessive MONDO:0017845 +MONDO:0958010 cep128 OMIM:620667 MONDO:equivalentTo CEP128 +MONDO:0958011 immunodeficiency 117 OMIM:620668 MONDO:equivalentTo immunodeficiency 117 MONDO:0021094 +MONDO:0958012 neurodegeneration with brain iron accumulation 9 OMIM:620669 MONDO:equivalentTo neurodegeneration with brain iron accumulation 9 MONDO:0018307 +MONDO:0958013 immunodeficiency, common variable, 15 OMIM:620670 MONDO:equivalentTo immunodeficiency, common variable, 15 MONDO:0015517 +MONDO:0958014 pou2af2 OMIM:620671 MONDO:equivalentTo POU2AF2 +MONDO:0958015 lrrc24 OMIM:620672 MONDO:equivalentTo LRRC24 +MONDO:0958016 map1lc3b2 OMIM:620673 MONDO:equivalentTo MAP1LC3B2 +MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant OMIM:620674 MONDO:equivalentTo neutropenia, severe congenital, 11, autosomal dominant MONDO:0018542 +MONDO:0958018 leukodystrophy, hypomyelinating, 27 OMIM:620675 MONDO:equivalentTo leukodystrophy, hypomyelinating, 27 MONDO:0019046 +MONDO:0958019 ccdc61 OMIM:620676 MONDO:equivalentTo CCDC61 +MONDO:0958020 tmem192 OMIM:620677 MONDO:equivalentTo TMEM192 +MONDO:0958021 rinl OMIM:620678 MONDO:equivalentTo RINL +MONDO:0958022 lipodystrophy, familial partial, iia 8 OMIM:620679 MONDO:equivalentTo lipodystrophy, familial partial, iia 8 MONDO:0020088 +MONDO:0958023 lipodystrophy, congenital generalized, iia 5 OMIM:620680 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 5 MONDO:0006536 +MONDO:0958024 szrd1 OMIM:620682 MONDO:equivalentTo SZRD1 +MONDO:0958025 hgh1 OMIM:620684 MONDO:equivalentTo HGH1 +MONDO:0958026 c19orf53 OMIM:620685 MONDO:equivalentTo C19ORF53 +MONDO:0958027 fg syndrome OMIMPS:305450 MONDO:equivalentTo FG syndrome +MONDO:0958028 leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 MONDO:equivalentTo Leber hereditary optic neuropathy, autosomal recessive diff --git a/src/scripts/lexmatch-sssom-compare.py b/src/scripts/lexmatch-sssom-compare.py index 6d6a2fd4..a5914b31 100644 --- a/src/scripts/lexmatch-sssom-compare.py +++ b/src/scripts/lexmatch-sssom-compare.py @@ -204,7 +204,7 @@ def extract_unmapped_matches(input: str, matches: TextIO, output_dir: str, summa combined_df = pd.concat(ont_df_list) combined_msdf = MappingSetDataFrame( - df=combined_df, prefix_map=msdf_lex.prefix_map, metadata=msdf_lex.metadata + df=combined_df, converter=msdf_lex.converter, metadata=msdf_lex.metadata ) df_dict = split_dataframe(combined_msdf) summary.write("## mondo_XXXXmatch_ontology") diff --git a/src/scripts/match-mondo-sources-all-lexical.py b/src/scripts/match-mondo-sources-all-lexical.py index 1da04646..ab9366bf 100644 --- a/src/scripts/match-mondo-sources-all-lexical.py +++ b/src/scripts/match-mondo-sources-all-lexical.py @@ -85,7 +85,8 @@ def main(verbose: int, quiet: bool): def run(input: str, config: str, rules: str, rejects: str, output: str): # Implemented `meta` param in `lexical_index_to_sssom` - meta = get_metadata_and_prefix_map(config) + #meta = get_metadata_and_prefix_map(config) + meta = None with open(config, "r") as f: yml = yaml.safe_load(f) diff --git a/src/sparql/fix_xref_prefixes.ru b/src/sparql/fix_xref_prefixes.ru index 55a463ca..a8023fa4 100644 --- a/src/sparql/fix_xref_prefixes.ru +++ b/src/sparql/fix_xref_prefixes.ru @@ -30,5 +30,5 @@ WHERE ?p ?v . } FILTER (isIRI(?entity)) - BIND(REPLACE(REPLACE(REPLACE(?value, "ICD-10:", "ICD10:", "i"), "MeSH:", "MESH:", "i"), "OMIM:PS", "OMIMPS:", "i") AS ?value_fixed) + BIND(REPLACE(REPLACE(REPLACE(REPLACE(?value, "ICD-11:", "ICD11:", "i"), "ICD-10:", "ICD10:", "i"), "MeSH:", "MESH:", "i"), "OMIM:PS", "OMIMPS:", "i") AS ?value_fixed) } diff --git a/src/sparql/rm_xref_by_prefix.ru b/src/sparql/rm_xref_by_prefix.ru index 9d34e652..955aa9f8 100644 --- a/src/sparql/rm_xref_by_prefix.ru +++ b/src/sparql/rm_xref_by_prefix.ru @@ -16,5 +16,5 @@ WHERE { oboInOwl:hasDbXref ?xref ; ?p1 ?o2 . } - FILTER( STRSTARTS(str(?xref), "UMLS_ICD9CM_2005_AUI:") || STRSTARTS(str(?xref), "ICD11:") || STRSTARTS(str(?xref), "SNOMEDCT_US_") ||STRSTARTS(str(?xref), "IMDRF:")) + FILTER( STRSTARTS(str(?xref), "UMLS_ICD9CM_2005_AUI:") || STRSTARTS(str(?xref), "ICD11:") || STRSTARTS(str(?xref), "SNOMEDCT_US_") || STRSTARTS(str(?xref), "IMDRF:") || STRSTARTS(str(?xref), "url:") ) } \ No newline at end of file